# HG changeset patch # User padr # Date 1524754645 14400 # Node ID 33f04fc1f109512d8233a1da489443e87b6af68e Uploaded diff -r 000000000000 -r 33f04fc1f109 RemovingNonAsciicharsfromtextfile/RemovingNonAsciicharsfromtextfile.py --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/RemovingNonAsciicharsfromtextfile/RemovingNonAsciicharsfromtextfile.py Thu Apr 26 10:57:25 2018 -0400 @@ -0,0 +1,742 @@ +# RemovingNonAsciicharsfromtextfile/RemovingNonAsciicharsfromtextfile.py - a self annotated version of rgToolFactory.py generated by running rgToolFactory.py +# to make a new Galaxy tool called RemovingNonAsciicharsfromtextfile +# User pela@centrum.cz at 26/04/2018 16:33:36 +# rgToolFactory.py +# see https://bitbucket.org/fubar/galaxytoolfactory/wiki/Home +# +# copyright ross lazarus (ross stop lazarus at gmail stop com) May 2012 +# +# all rights reserved +# Licensed under the LGPL +# suggestions for improvement and bug fixes welcome at https://bitbucket.org/fubar/galaxytoolfactory/wiki/Home +# +# August 2014 +# merged John Chilton's citation addition and ideas from Marius van den Beek to enable arbitrary +# data types for input and output - thanks! +# +# march 2014 +# had to remove dependencies because cross toolshed dependencies are not possible - can't pre-specify a toolshed url for graphicsmagick and ghostscript +# grrrrr - night before a demo +# added dependencies to a tool_dependencies.xml if html page generated so generated tool is properly portable +# +# added ghostscript and graphicsmagick as dependencies +# fixed a wierd problem where gs was trying to use the new_files_path from universe (database/tmp) as ./database/tmp +# errors ensued +# +# august 2013 +# found a problem with GS if $TMP or $TEMP missing - now inject /tmp and warn +# +# july 2013 +# added ability to combine images and individual log files into html output +# just make sure there's a log file foo.log and it will be output +# together with all images named like "foo_*.pdf +# otherwise old format for html +# +# January 2013 +# problem pointed out by Carlos Borroto +# added escaping for <>$ - thought I did that ages ago... +# +# August 11 2012 +# changed to use shell=False and cl as a sequence + +# This is a Galaxy tool factory for simple scripts in python, R or whatever ails ye. +# It also serves as the wrapper for the new tool. +# +# you paste and run your script +# Only works for simple scripts that read one input from the history. +# Optionally can write one new history dataset, +# and optionally collect any number of outputs into links on an autogenerated HTML page. + +# DO NOT install on a public or important site - please. + +# installed generated tools are fine if the script is safe. +# They just run normally and their user cannot do anything unusually insecure +# but please, practice safe toolshed. +# Read the fucking code before you install any tool +# especially this one + +# After you get the script working on some test data, you can +# optionally generate a toolshed compatible gzip file +# containing your script safely wrapped as an ordinary Galaxy script in your local toolshed for +# safe and largely automated installation in a production Galaxy. + +# If you opt for an HTML output, you get all the script outputs arranged +# as a single Html history item - all output files are linked, thumbnails for all the pdfs. +# Ugly but really inexpensive. +# +# Patches appreciated please. +# +# +# long route to June 2012 product +# Behold the awesome power of Galaxy and the toolshed with the tool factory to bind them +# derived from an integrated script model +# called rgBaseScriptWrapper.py +# Note to the unwary: +# This tool allows arbitrary scripting on your Galaxy as the Galaxy user +# There is nothing stopping a malicious user doing whatever they choose +# Extremely dangerous!! +# Totally insecure. So, trusted users only +# +# preferred model is a developer using their throw away workstation instance - ie a private site. +# no real risk. The universe_wsgi.ini admin_users string is checked - only admin users are permitted to run this tool. +# + +import sys +import shutil +import subprocess +import os +import time +import tempfile +import optparse +import tarfile +import re +import shutil +import math + +progname = os.path.split(sys.argv[0])[1] +myversion = 'V001.1 March 2014' +verbose = False +debug = False +toolFactoryURL = 'https://bitbucket.org/fubar/galaxytoolfactory' + +# if we do html we need these dependencies specified in a tool_dependencies.xml file and referred to in the generated +# tool xml +toolhtmldepskel = """ + + + + + + + + + %s + + +""" + +protorequirements = """ + ghostscript + graphicsmagick + """ + +def timenow(): + """return current time as a string + """ + return time.strftime('%d/%m/%Y %H:%M:%S', time.localtime(time.time())) + +html_escape_table = { + "&": "&", + ">": ">", + "<": "<", + "$": "\$" + } + +def html_escape(text): + """Produce entities within text.""" + return "".join(html_escape_table.get(c,c) for c in text) + +def cmd_exists(cmd): + return subprocess.call("type " + cmd, shell=True, + stdout=subprocess.PIPE, stderr=subprocess.PIPE) == 0 + + +def parse_citations(citations_text): + """ + """ + citations = [c for c in citations_text.split("**ENTRY**") if c.strip()] + citation_tuples = [] + for citation in citations: + if citation.startswith("doi"): + citation_tuples.append( ("doi", citation[len("doi"):].strip() ) ) + else: + citation_tuples.append( ("bibtex", citation[len("bibtex"):].strip() ) ) + return citation_tuples + + +class ScriptRunner: + """class is a wrapper for an arbitrary script + """ + + def __init__(self,opts=None,treatbashSpecial=True): + """ + cleanup inputs, setup some outputs + + """ + self.useGM = cmd_exists('gm') + self.useIM = cmd_exists('convert') + self.useGS = cmd_exists('gs') + self.temp_warned = False # we want only one warning if $TMP not set + self.treatbashSpecial = treatbashSpecial + if opts.output_dir: # simplify for the tool tarball + os.chdir(opts.output_dir) + self.thumbformat = 'png' + self.opts = opts + self.toolname = re.sub('[^a-zA-Z0-9_]+', '', opts.tool_name) # a sanitizer now does this but.. + self.toolid = self.toolname + self.myname = sys.argv[0] # get our name because we write ourselves out as a tool later + self.pyfile = self.myname # crude but efficient - the cruft won't hurt much + self.xmlfile = '%s.xml' % self.toolname + s = open(self.opts.script_path,'r').readlines() + s = [x.rstrip() for x in s] # remove pesky dos line endings if needed + self.script = '\n'.join(s) + fhandle,self.sfile = tempfile.mkstemp(prefix=self.toolname,suffix=".%s" % (opts.interpreter)) + tscript = open(self.sfile,'w') # use self.sfile as script source for Popen + tscript.write(self.script) + tscript.close() + self.indentedScript = '\n'.join([' %s' % html_escape(x) for x in s]) # for restructured text in help + self.escapedScript = '\n'.join([html_escape(x) for x in s]) + self.elog = os.path.join(self.opts.output_dir,"%s_error.log" % self.toolname) + if opts.output_dir: # may not want these complexities + self.tlog = os.path.join(self.opts.output_dir,"%s_runner.log" % self.toolname) + art = '%s.%s' % (self.toolname,opts.interpreter) + artpath = os.path.join(self.opts.output_dir,art) # need full path + artifact = open(artpath,'w') # use self.sfile as script source for Popen + artifact.write(self.script) + artifact.close() + self.cl = [] + self.html = [] + a = self.cl.append + a(opts.interpreter) + if self.treatbashSpecial and opts.interpreter in ['bash','sh']: + a(self.sfile) + else: + a('-') # stdin + a(opts.input_tab) + a(opts.output_tab) + self.outputFormat = self.opts.output_format + self.inputFormats = self.opts.input_formats + self.test1Input = '%s_test1_input.xls' % self.toolname + self.test1Output = '%s_test1_output.xls' % self.toolname + self.test1HTML = '%s_test1_output.html' % self.toolname + + def makeXML(self): + """ + Create a Galaxy xml tool wrapper for the new script as a string to write out + fixme - use templating or something less fugly than this example of what we produce + + + a tabular file + + reverse.py --script_path "$runMe" --interpreter "python" + --tool_name "reverse" --input_tab "$input1" --output_tab "$tab_file" + + + + + + + + + + + +**What it Does** + +Reverse the columns in a tabular file + + + + + +# reverse order of columns in a tabular file +import sys +inp = sys.argv[1] +outp = sys.argv[2] +i = open(inp,'r') +o = open(outp,'w') +for row in i: + rs = row.rstrip().split('\t') + rs.reverse() + o.write('\t'.join(rs)) + o.write('\n') +i.close() +o.close() + + + + + + + """ + newXML=""" +%(tooldesc)s +%(requirements)s + +%(command)s + + +%(inputs)s + + +%(outputs)s + + + +%(script)s + + + +%(tooltests)s + + + +%(help)s + + + + %(citations)s + 10.1093/bioinformatics/bts573 + +""" # needs a dict with toolname, toolid, interpreter, scriptname, command, inputs as a multi line string ready to write, outputs ditto, help ditto + + newCommand=""" + %(toolname)s.py --script_path "$runMe" --interpreter "%(interpreter)s" + --tool_name "%(toolname)s" %(command_inputs)s %(command_outputs)s """ + # may NOT be an input or htmlout - appended later + tooltestsTabOnly = """ + + + + + + + + + """ + tooltestsHTMLOnly = """ + + + + + + + + + """ + tooltestsBoth = """ + + + + + + + + + """ + xdict = {} + xdict['outputFormat'] = self.outputFormat + xdict['inputFormats'] = self.inputFormats + xdict['requirements'] = '' + if self.opts.make_HTML: + if self.opts.include_dependencies == "yes": + xdict['requirements'] = protorequirements + xdict['tool_version'] = self.opts.tool_version + xdict['test1Input'] = self.test1Input + xdict['test1HTML'] = self.test1HTML + xdict['test1Output'] = self.test1Output + if self.opts.make_HTML and self.opts.output_tab <> 'None': + xdict['tooltests'] = tooltestsBoth % xdict + elif self.opts.make_HTML: + xdict['tooltests'] = tooltestsHTMLOnly % xdict + else: + xdict['tooltests'] = tooltestsTabOnly % xdict + xdict['script'] = self.escapedScript + # configfile is least painful way to embed script to avoid external dependencies + # but requires escaping of <, > and $ to avoid Mako parsing + if self.opts.help_text: + helptext = open(self.opts.help_text,'r').readlines() + helptext = [html_escape(x) for x in helptext] # must html escape here too - thanks to Marius van den Beek + xdict['help'] = ''.join([x for x in helptext]) + else: + xdict['help'] = 'Please ask the tool author (%s) for help as none was supplied at tool generation\n' % (self.opts.user_email) + if self.opts.citations: + citationstext = open(self.opts.citations,'r').read() + citation_tuples = parse_citations(citationstext) + citations_xml = "" + for citation_type, citation_content in citation_tuples: + citation_xml = """%s""" % (citation_type, html_escape(citation_content)) + citations_xml += citation_xml + xdict['citations'] = citations_xml + else: + xdict['citations'] = "" + coda = ['**Script**','Pressing execute will run the following code over your input file and generate some outputs in your history::'] + coda.append('\n') + coda.append(self.indentedScript) + coda.append('\n**Attribution**\nThis Galaxy tool was created by %s at %s\nusing the Galaxy Tool Factory.\n' % (self.opts.user_email,timenow())) + coda.append('See %s for details of that project' % (toolFactoryURL)) + coda.append('Please cite: Creating re-usable tools from scripts: The Galaxy Tool Factory. Ross Lazarus; Antony Kaspi; Mark Ziemann; The Galaxy Team. ') + coda.append('Bioinformatics 2012; doi: 10.1093/bioinformatics/bts573\n') + xdict['help'] = '%s\n%s' % (xdict['help'],'\n'.join(coda)) + if self.opts.tool_desc: + xdict['tooldesc'] = '%s' % self.opts.tool_desc + else: + xdict['tooldesc'] = '' + xdict['command_outputs'] = '' + xdict['outputs'] = '' + if self.opts.input_tab <> 'None': + xdict['command_inputs'] = '--input_tab "$input1" ' # the space may matter a lot if we append something + xdict['inputs'] = ' \n' % self.inputFormats + else: + xdict['command_inputs'] = '' # assume no input - eg a random data generator + xdict['inputs'] = '' + xdict['inputs'] += ' \n' % self.toolname + xdict['toolname'] = self.toolname + xdict['toolid'] = self.toolid + xdict['interpreter'] = self.opts.interpreter + xdict['scriptname'] = self.sfile + if self.opts.make_HTML: + xdict['command_outputs'] += ' --output_dir "$html_file.files_path" --output_html "$html_file" --make_HTML "yes"' + xdict['outputs'] += ' \n' + else: + xdict['command_outputs'] += ' --output_dir "./"' + if self.opts.output_tab <> 'None': + xdict['command_outputs'] += ' --output_tab "$tab_file"' + xdict['outputs'] += ' \n' % self.outputFormat + xdict['command'] = newCommand % xdict + xmls = newXML % xdict + xf = open(self.xmlfile,'w') + xf.write(xmls) + xf.write('\n') + xf.close() + # ready for the tarball + + + def makeTooltar(self): + """ + a tool is a gz tarball with eg + /toolname/tool.xml /toolname/tool.py /toolname/test-data/test1_in.foo ... + """ + retval = self.run() + if retval: + print >> sys.stderr,'## Run failed. Cannot build yet. Please fix and retry' + sys.exit(1) + tdir = self.toolname + os.mkdir(tdir) + self.makeXML() + if self.opts.make_HTML: + if self.opts.help_text: + hlp = open(self.opts.help_text,'r').read() + else: + hlp = 'Please ask the tool author for help as none was supplied at tool generation\n' + if self.opts.include_dependencies: + tooldepcontent = toolhtmldepskel % hlp + depf = open(os.path.join(tdir,'tool_dependencies.xml'),'w') + depf.write(tooldepcontent) + depf.write('\n') + depf.close() + if self.opts.input_tab <> 'None': # no reproducible test otherwise? TODO: maybe.. + testdir = os.path.join(tdir,'test-data') + os.mkdir(testdir) # make tests directory + shutil.copyfile(self.opts.input_tab,os.path.join(testdir,self.test1Input)) + if self.opts.output_tab <> 'None': + shutil.copyfile(self.opts.output_tab,os.path.join(testdir,self.test1Output)) + if self.opts.make_HTML: + shutil.copyfile(self.opts.output_html,os.path.join(testdir,self.test1HTML)) + if self.opts.output_dir: + shutil.copyfile(self.tlog,os.path.join(testdir,'test1_out.log')) + outpif = '%s.py' % self.toolname # new name + outpiname = os.path.join(tdir,outpif) # path for the tool tarball + pyin = os.path.basename(self.pyfile) # our name - we rewrite ourselves (TM) + notes = ['# %s - a self annotated version of %s generated by running %s\n' % (outpiname,pyin,pyin),] + notes.append('# to make a new Galaxy tool called %s\n' % self.toolname) + notes.append('# User %s at %s\n' % (self.opts.user_email,timenow())) + pi = open(self.pyfile,'r').readlines() # our code becomes new tool wrapper (!) - first Galaxy worm + notes += pi + outpi = open(outpiname,'w') + outpi.write(''.join(notes)) + outpi.write('\n') + outpi.close() + stname = os.path.join(tdir,self.sfile) + if not os.path.exists(stname): + shutil.copyfile(self.sfile, stname) + xtname = os.path.join(tdir,self.xmlfile) + if not os.path.exists(xtname): + shutil.copyfile(self.xmlfile,xtname) + tarpath = "%s.gz" % self.toolname + tar = tarfile.open(tarpath, "w:gz") + tar.add(tdir,arcname=self.toolname) + tar.close() + shutil.copyfile(tarpath,self.opts.new_tool) + shutil.rmtree(tdir) + ## TODO: replace with optional direct upload to local toolshed? + return retval + + + def compressPDF(self,inpdf=None,thumbformat='png'): + """need absolute path to pdf + note that GS gets confoozled if no $TMP or $TEMP + so we set it + """ + assert os.path.isfile(inpdf), "## Input %s supplied to %s compressPDF not found" % (inpdf,self.myName) + hlog = os.path.join(self.opts.output_dir,"compress_%s.txt" % os.path.basename(inpdf)) + sto = open(hlog,'a') + our_env = os.environ.copy() + our_tmp = our_env.get('TMP',None) + if not our_tmp: + our_tmp = our_env.get('TEMP',None) + if not (our_tmp and os.path.exists(our_tmp)): + newtmp = os.path.join(self.opts.output_dir,'tmp') + try: + os.mkdir(newtmp) + except: + sto.write('## WARNING - cannot make %s - it may exist or permissions need fixing\n' % newtmp) + our_env['TEMP'] = newtmp + if not self.temp_warned: + sto.write('## WARNING - no $TMP or $TEMP!!! Please fix - using %s temporarily\n' % newtmp) + self.temp_warned = True + outpdf = '%s_compressed' % inpdf + cl = ["gs", "-sDEVICE=pdfwrite", "-dNOPAUSE", "-dUseCIEColor", "-dBATCH","-dPDFSETTINGS=/printer", "-sOutputFile=%s" % outpdf,inpdf] + x = subprocess.Popen(cl,stdout=sto,stderr=sto,cwd=self.opts.output_dir,env=our_env) + retval1 = x.wait() + sto.close() + if retval1 == 0: + os.unlink(inpdf) + shutil.move(outpdf,inpdf) + os.unlink(hlog) + hlog = os.path.join(self.opts.output_dir,"thumbnail_%s.txt" % os.path.basename(inpdf)) + sto = open(hlog,'w') + outpng = '%s.%s' % (os.path.splitext(inpdf)[0],thumbformat) + if self.useGM: + cl2 = ['gm', 'convert', inpdf, outpng] + else: # assume imagemagick + cl2 = ['convert', inpdf, outpng] + x = subprocess.Popen(cl2,stdout=sto,stderr=sto,cwd=self.opts.output_dir,env=our_env) + retval2 = x.wait() + sto.close() + if retval2 == 0: + os.unlink(hlog) + retval = retval1 or retval2 + return retval + + + def getfSize(self,fpath,outpath): + """ + format a nice file size string + """ + size = '' + fp = os.path.join(outpath,fpath) + if os.path.isfile(fp): + size = '0 B' + n = float(os.path.getsize(fp)) + if n > 2**20: + size = '%1.1f MB' % (n/2**20) + elif n > 2**10: + size = '%1.1f KB' % (n/2**10) + elif n > 0: + size = '%d B' % (int(n)) + return size + + def makeHtml(self): + """ Create an HTML file content to list all the artifacts found in the output_dir + """ + + galhtmlprefix = """ + + + + + + + +
+ """ + galhtmlattr = """
This tool (%s) was generated by the Galaxy Tool Factory

""" + galhtmlpostfix = """
\n""" + + flist = os.listdir(self.opts.output_dir) + flist = [x for x in flist if x <> 'Rplots.pdf'] + flist.sort() + html = [] + html.append(galhtmlprefix % progname) + html.append('
Galaxy Tool "%s" run at %s

' % (self.toolname,timenow())) + fhtml = [] + if len(flist) > 0: + logfiles = [x for x in flist if x.lower().endswith('.log')] # log file names determine sections + logfiles.sort() + logfiles = [x for x in logfiles if os.path.abspath(x) <> os.path.abspath(self.tlog)] + logfiles.append(os.path.abspath(self.tlog)) # make it the last one + pdflist = [] + npdf = len([x for x in flist if os.path.splitext(x)[-1].lower() == '.pdf']) + for rownum,fname in enumerate(flist): + dname,e = os.path.splitext(fname) + sfsize = self.getfSize(fname,self.opts.output_dir) + if e.lower() == '.pdf' : # compress and make a thumbnail + thumb = '%s.%s' % (dname,self.thumbformat) + pdff = os.path.join(self.opts.output_dir,fname) + retval = self.compressPDF(inpdf=pdff,thumbformat=self.thumbformat) + if retval == 0: + pdflist.append((fname,thumb)) + else: + pdflist.append((fname,fname)) + if (rownum+1) % 2 == 0: + fhtml.append('%s%s' % (fname,fname,sfsize)) + else: + fhtml.append('%s%s' % (fname,fname,sfsize)) + for logfname in logfiles: # expect at least tlog - if more + if os.path.abspath(logfname) == os.path.abspath(self.tlog): # handled later + sectionname = 'All tool run' + if (len(logfiles) > 1): + sectionname = 'Other' + ourpdfs = pdflist + else: + realname = os.path.basename(logfname) + sectionname = os.path.splitext(realname)[0].split('_')[0] # break in case _ added to log + ourpdfs = [x for x in pdflist if os.path.basename(x[0]).split('_')[0] == sectionname] + pdflist = [x for x in pdflist if os.path.basename(x[0]).split('_')[0] <> sectionname] # remove + nacross = 1 + npdf = len(ourpdfs) + + if npdf > 0: + nacross = math.sqrt(npdf) ## int(round(math.log(npdf,2))) + if int(nacross)**2 != npdf: + nacross += 1 + nacross = int(nacross) + width = min(400,int(1200/nacross)) + html.append('
%s images and outputs
' % sectionname) + html.append('(Click on a thumbnail image to download the corresponding original PDF image)
') + ntogo = nacross # counter for table row padding with empty cells + html.append('
\n') + for i,paths in enumerate(ourpdfs): + fname,thumb = paths + s= """\n""" % (fname,thumb,fname,width,fname) + if ((i+1) % nacross == 0): + s += '\n' + ntogo = 0 + if i < (npdf - 1): # more to come + s += '' + ntogo = nacross + else: + ntogo -= 1 + html.append(s) + if html[-1].strip().endswith(''): + html.append('
Image called %s
\n') + else: + if ntogo > 0: # pad + html.append(' '*ntogo) + html.append('\n') + logt = open(logfname,'r').readlines() + logtext = [x for x in logt if x.strip() > ''] + html.append('
%s log output
' % sectionname) + if len(logtext) > 1: + html.append('\n
\n')
+                    html += logtext
+                    html.append('\n
\n') + else: + html.append('%s is empty
' % logfname) + if len(fhtml) > 0: + fhtml.insert(0,'
\n') + fhtml.append('
Output File Name (click to view)Size

') + html.append('
All output files available for downloading
\n') + html += fhtml # add all non-pdf files to the end of the display + else: + html.append('
### Error - %s returned no files - please confirm that parameters are sane
' % self.opts.interpreter) + html.append(galhtmlpostfix) + htmlf = file(self.opts.output_html,'w') + htmlf.write('\n'.join(html)) + htmlf.write('\n') + htmlf.close() + self.html = html + + + def run(self): + """ + scripts must be small enough not to fill the pipe! + """ + if self.treatbashSpecial and self.opts.interpreter in ['bash','sh']: + retval = self.runBash() + else: + if self.opts.output_dir: + ste = open(self.elog,'a') + sto = open(self.tlog,'a') + sto.write('## Toolfactory generated command line = %s\n' % ' '.join(self.cl)) + sto.flush() + p = subprocess.Popen(self.cl,shell=False,stdout=sto,stderr=ste,stdin=subprocess.PIPE,cwd=self.opts.output_dir) + else: + p = subprocess.Popen(self.cl,shell=False,stdin=subprocess.PIPE) + p.stdin.write(self.script) + p.stdin.close() + retval = p.wait() + if self.opts.output_dir: + sto.close() + ste.close() + err = open(self.elog,'r').readlines() + if retval <> 0 and err: # problem + print >> sys.stderr,err + if self.opts.make_HTML: + self.makeHtml() + return retval + + def runBash(self): + """ + cannot use - for bash so use self.sfile + """ + if self.opts.output_dir: + s = '## Toolfactory generated command line = %s\n' % ' '.join(self.cl) + sto = open(self.tlog,'w') + sto.write(s) + sto.flush() + p = subprocess.Popen(self.cl,shell=False,stdout=sto,stderr=sto,cwd=self.opts.output_dir) + else: + p = subprocess.Popen(self.cl,shell=False) + retval = p.wait() + if self.opts.output_dir: + sto.close() + if self.opts.make_HTML: + self.makeHtml() + return retval + + +def main(): + u = """ + This is a Galaxy wrapper. It expects to be called by a special purpose tool.xml as: + rgBaseScriptWrapper.py --script_path "$scriptPath" --tool_name "foo" --interpreter "Rscript" + + """ + op = optparse.OptionParser() + a = op.add_option + a('--script_path',default=None) + a('--tool_name',default=None) + a('--interpreter',default=None) + a('--output_dir',default='./') + a('--output_html',default=None) + a('--input_tab',default="None") + a('--input_formats',default="tabular,text") + a('--output_tab',default="None") + a('--output_format',default="tabular") + a('--user_email',default='Unknown') + a('--bad_user',default=None) + a('--make_Tool',default=None) + a('--make_HTML',default=None) + a('--help_text',default=None) + a('--citations',default=None) + a('--tool_desc',default=None) + a('--new_tool',default=None) + a('--tool_version',default=None) + a('--include_dependencies',default=None) + opts, args = op.parse_args() + assert not opts.bad_user,'UNAUTHORISED: %s is NOT authorized to use this tool until Galaxy admin adds %s to admin_users in universe_wsgi.ini' % (opts.bad_user,opts.bad_user) + assert opts.tool_name,'## Tool Factory expects a tool name - eg --tool_name=DESeq' + assert opts.interpreter,'## Tool Factory wrapper expects an interpreter - eg --interpreter=Rscript' + assert os.path.isfile(opts.script_path),'## Tool Factory wrapper expects a script path - eg --script_path=foo.R' + if opts.output_dir: + try: + os.makedirs(opts.output_dir) + except: + pass + r = ScriptRunner(opts) + if opts.make_Tool: + retcode = r.makeTooltar() + else: + retcode = r.run() + os.unlink(r.sfile) + if retcode: + sys.exit(retcode) # indicate failure to job runner + + +if __name__ == "__main__": + main() + + + diff -r 000000000000 -r 33f04fc1f109 RemovingNonAsciicharsfromtextfile/RemovingNonAsciicharsfromtextfile.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/RemovingNonAsciicharsfromtextfile/RemovingNonAsciicharsfromtextfile.xml Thu Apr 26 10:57:25 2018 -0400 @@ -0,0 +1,68 @@ + +Removing Non-Ascii chars from text file + + + + RemovingNonAsciicharsfromtextfile.py --script_path "$runMe" --interpreter "bash" + --tool_name "RemovingNonAsciicharsfromtextfile" --input_tab "$input1" --output_dir "./" --output_tab "$tab_file" + + + + + + + + + + + + +#!/bin/bash +INF=\$1 +OUTF=\$2 +perl -pe's/[[:^ascii:]]//g' < \$INF > \$OUTF + + + + + + + + + + + + + + + + + +**What it Does** + +Removing Non-Ascii chars from text file + +**Script** +Pressing execute will run the following code over your input file and generate some outputs in your history:: + + + #!/bin/bash + INF=\$1 + OUTF=\$2 + perl -pe's/[[:^ascii:]]//g' < \$INF > \$OUTF + +**Attribution** +This Galaxy tool was created by pela@centrum.cz at 26/04/2018 16:33:35 +using the Galaxy Tool Factory. + +See https://bitbucket.org/fubar/galaxytoolfactory for details of that project +Please cite: Creating re-usable tools from scripts: The Galaxy Tool Factory. Ross Lazarus; Antony Kaspi; Mark Ziemann; The Galaxy Team. +Bioinformatics 2012; doi: 10.1093/bioinformatics/bts573 + + + + + + 10.1093/bioinformatics/bts573 + + diff -r 000000000000 -r 33f04fc1f109 RemovingNonAsciicharsfromtextfile/test-data/RemovingNonAsciicharsfromtextfile_test1_input.xls --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/RemovingNonAsciicharsfromtextfile/test-data/RemovingNonAsciicharsfromtextfile_test1_input.xls Thu Apr 26 10:57:25 2018 -0400 @@ -0,0 +1,9986 @@ +#id chrom inputPos inputRef inputAlt unannotatedReason gene geneId geneDesc transcript strand transLen cdsLen protein Uniprot varType codingEffect varLocation assembly gDNAstart gDNAend gNomen cDNAstart cDNAend cNomen pNomen alt_pNomen exon intron omimId distNearestSS nearestSSType wtSSFScore wtMaxEntScore wtNNSScore wtGSScore varSSFScore varMaxEntScore varNNSScore varGSScore nearestSSChange localSpliceEffect localSS_pos localSS_wtMaxEntScore localSS_wtNNSScore localSS_wtSSFScore localSS_varMaxEntScore localSS_varNNSScore localSS_varSSFScore branchPointPos branchPointChange proteinDomain1 proteinDomain2 proteinDomain3 proteinDomain4 rsId rsValidated rsSuspect rsValidations rsValidationNumber rsAncestralAllele rsHeterozygosity rsClinicalSignificance rsMAF rsMAFAllele rsMAFCount 1000g_AF 1000g_AFR_AF 1000g_SAS_AF 1000g_EAS_AF 1000g_EUR_AF 1000g_AMR_AF gnomadAltFreq_all gnomadAltFreq_afr gnomadAltFreq_amr gnomadAltFreq_asj gnomadAltFreq_eas gnomadAltFreq_sas gnomadAltFreq_nfe gnomadAltFreq_fin gnomadAltFreq_oth gnomadAltFreq_popmax gnomadAltCount_all gnomadAltCount_afr gnomadAltCount_amr gnomadAltCount_asj gnomadAltCount_eas gnomadAltCount_sas gnomadAltCount_nfe gnomadAltCount_fin gnomadAltCount_oth gnomadTotalCount_all gnomadTotalCount_afr gnomadTotalCount_amr gnomadTotalCount_asj gnomadTotalCount_eas gnomadTotalCount_sas gnomadTotalCount_nfe gnomadTotalCount_fin gnomadTotalCount_oth gnomadHomFreq_all gnomadHomFreq_afr gnomadHomFreq_amr gnomadHomFreq_asj gnomadHomFreq_eas gnomadHomFreq_sas gnomadHomFreq_nfe gnomadHomFreq_fin gnomadHomFreq_oth gnomadHomCount_all gnomadHomCount_afr gnomadHomCount_amr gnomadHomCount_asj gnomadHomCount_eas gnomadHomCount_sas gnomadHomCount_nfe gnomadHomCount_fin gnomadHomCount_oth gnomadHetCount_all gnomadHetCount_afr gnomadHetCount_amr gnomadHetCount_asj gnomadHetCount_eas gnomadHetCount_sas gnomadHetCount_nfe gnomadHetCount_fin gnomadHetCount_oth gnomadHemCount_all gnomadHemCount_afr gnomadHemCount_amr gnomadHemCount_asj gnomadHemCount_eas gnomadHemCount_sas gnomadHemCount_nfe gnomadHemCount_fin gnomadHemCount_oth gnomadFilter gnomadReadDepth gnomadOrigin espRefEACount espRefAACount espRefAllCount espAltEACount espAltAACount espAltAllCount espEAMAF espAAMAF espAllMAF espEAAAF espAAAAF espAllAAF espAvgReadDepth clinVarIds clinVarOrigins clinVarMethods clinVarClinSignifs clinVarReviewStatus clinVarPhenotypes hgmdId hgmdPhenotype hgmdPubMedId hgmdSubCategory cosmicIds cosmicTissues cosmicFreqs cosmicSampleCounts insNucs delNucs substType wtNuc varNuc nucChange phastCons phyloP wtAA_1 wtAA_3 wtCodon wtCodonFreq varAA_1 varAA_3 varCodon varCodonFreq posAA nOrthos conservedOrthos conservedDistSpecies BLOSUM45 BLOSUM62 BLOSUM80 wtAAcomposition varAAcomposition wtAApolarity varAApolarity wtAAvolume varAAvolume granthamDist AGVGDclass AGVGDgv AGVGDgd SIFTprediction SIFTweight SIFTmedian MAPPprediction MAPPpValue MAPPpValueMedian QUAL FILTER 1000G2012APR_AFR 1000G2012APR_ALL 1000G2012APR_AMR 1000G2012APR_ASN 1000G2012APR_EUR 1000G_AFR 1000G_ALL 1000G_AMR 1000G_EAS 1000G_EUR 1000G_SAS AAChange.ensGene AAChange.knownGene AAChange.refGene AC AC3 AF1 AFR.sites.2015_08 ALL.sites.2015_08 ALLELE_ORIGIN ALTCOUNT AMR.sites.2015_08 AN ANNOVAR_DATE BA1 BP1 BP2 BP3 BP4 BP5 BP6 BP7 BS1 BS2 BS3 BS4 CADD CADD13_PHRED CADD13_RawScore CADD_Phred CADD_phred CADD_raw CADD_raw_rankscore CG46 CLINICAL_SIGNIFICANCE CLINSIG CLNACC CLNDBN CLNDSDB CLNDSDBID Category DANN_rankscore DANN_score DISTANCE DP DP4 EAS.sites.2015_08 EFF ESP6500si_AA ESP6500si_ALL ESP6500si_EA ESP6500siv2_AA ESP6500siv2_ALL ESP6500siv2_EA EUR.sites.2015_08 Eigen Eigen-PC-raw Eigen-raw Eigen_coding_or_noncoding ExAC_AFR ExAC_ALL ExAC_AMR ExAC_EAS ExAC_FIN ExAC_Freq ExAC_NFE ExAC_OTH ExAC_SAS ExAC_nonpsych_AFR ExAC_nonpsych_ALL ExAC_nonpsych_AMR ExAC_nonpsych_EAS ExAC_nonpsych_FIN ExAC_nonpsych_NFE ExAC_nonpsych_OTH ExAC_nonpsych_SAS ExAC_nontcga_AFR ExAC_nontcga_ALL ExAC_nontcga_AMR ExAC_nontcga_EAS ExAC_nontcga_FIN ExAC_nontcga_NFE ExAC_nontcga_OTH ExAC_nontcga_SAS ExonicFunc.ensGene ExonicFunc.knownGene ExonicFunc.refGene FATHMM_converted_rankscore FATHMM_pred FATHMM_score Func.ensGene Func.knownGene Func.refGene GENE GERP++_RS GERP++_RS_rankscore GLOBAL_MAF GLUE GTEx_V6_gene GTEx_V6_tissue GWAVA_region_score GWAVA_tss_score GWAVA_unmatched_score Gene.ensGene Gene.knownGene Gene.refGene GeneDetail.ensGene GeneDetail.knownGene GeneDetail.refGene GenoCanyon_score GenoCanyon_score_rankscore HGVS HRC_AC HRC_AF HRC_AN HRC_non1000G_AC HRC_non1000G_AF HRC_non1000G_AN InterVar(automated) Interpro_domain IsKnownVariant KEY LRT_converted_rankscore LRT_pred LRT_score LR_pred LR_score M-CAP_pred M-CAP_rankscore M-CAP_score MATEID MATEPOS MQ MetaLR_pred MetaLR_rankscore MetaLR_score MetaSVM_pred MetaSVM_rankscore MetaSVM_score MutationAssessor_pred MutationAssessor_score MutationAssessor_score_rankscore MutationTaster_converted_rankscore MutationTaster_pred MutationTaster_score NPAIRS OVLP PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PROVEAN_converted_rankscore PROVEAN_pred PROVEAN_score PS1 PS2 PS3 PS4 PUBMED_CITATIONS PVS1 Polyphen2_HDIV_pred Polyphen2_HDIV_rankscore Polyphen2_HDIV_score Polyphen2_HVAR_pred Polyphen2_HVAR_rankscore Polyphen2_HVAR_score PopFreqMax QUAL RadialSVM_pred RadialSVM_score SAS.sites.2015_08 SEL_PRIMARY_EFF SIFT_converted_rankscore SIFT_pred SIFT_score STDP4 SVTYPE SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore TYPE VEST3_rankscore VEST3_score Zygosity avsift avsnp144 cg46 cg69 clinvar_20131105 clinvar_20140929 clinvar_20150330 clinvar_20150629 cosmic70 dbnsfp1000Gp1_AF dbnsfp1000Gp1_AFR_AF dbnsfp1000Gp1_AMR_AF dbnsfp1000Gp1_ASN_AF dbnsfp1000Gp1_EUR_AF dbnsfp29way_logOdds dbnsfpESP5400_AA_AF dbnsfpEnsembl_transcriptid dbnsfpGERP++_NR dbnsfpGERP++_RS dbnsfpInterpro_domain dbnsfpSIFT_score dbnsfpUniprot_acc dbscSNV_ADA_SCORE dbscSNV_RF_SCORE dgvMerged esp6500si_all fathmm-MKL_coding_pred fathmm-MKL_coding_rankscore fathmm-MKL_coding_score gerp++elem gerp++gt2 gnomAD_exome_AFR gnomAD_exome_ALL gnomAD_exome_AMR gnomAD_exome_ASJ gnomAD_exome_EAS gnomAD_exome_FIN gnomAD_exome_NFE gnomAD_exome_OTH gnomAD_exome_SAS gnomAD_genome_AFR gnomAD_genome_ALL gnomAD_genome_AMR gnomAD_genome_ASJ gnomAD_genome_EAS gnomAD_genome_FIN gnomAD_genome_NFE gnomAD_genome_OTH integrated_confidence_value integrated_fitCons_score integrated_fitCons_score_rankscore ljb23_lrt ljb23_phylop ljb2_phylop ljb2_pp2hdiv ljb2_pp2hvar ljb2_sift ljb_pp2 ljb_sift pValue phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons20way_mammalian phastCons20way_mammalian_rankscore phastCons7way_vertebrate phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP20way_mammalian phyloP20way_mammalian_rankscore phyloP46way_placental phyloP7way_vertebrate popfreq_max snp129 snp130NonFlagged snp138 snp138NonFlagged ALLELE_END SAMPLE GQ GT PL +. 1 12138 C A © DDX11L1 37102 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 NR_046018.2 1 1652 0 substitution exon GRCh37 12138 12138 Chr1(GRCh37):g.12138C>A 265 265 NR_046018.2:n.265C>A 1 -90 5' 78.9497 9.09184 0.971166 4.42046 78.9497 9.09184 0.971166 4.42046 0 transversion C A C>A 0.055 0.609 188 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 152.0 . . . . . . . . . . -0.1682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . . . . ENSG00000223972 DDX11L1 DDX11L1 . uc010nxq.1:c.-52C>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +rs62635282 1 12198 G C - DDX11L1 37102 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 NR_046018.2 1 1652 0 substitution exon GRCh37 12198 12198 Chr1(GRCh37):g.12198G>C 325 325 NR_046018.2:n.325G>C 1 -30 5' 78.9497 9.09184 0.971166 4.42046 78.9497 9.09184 0.971166 4.38247 0 rs62635282 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.992 -0.117 255 PASS . . . . . . . . . . . . DDX11L1:uc010nxq.1:exon1:c.G9C:p.E3D . . . 0.7421384 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 159.0 . . . . . . . . . . 0.2004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.63 0.26 182 ENSG00000223972 DDX11L1 DDX11L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62635282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3871692 rs3871692 rs3871692 rs3871692 1 1538 10 1/0 0,243,239 +rs2691329 1 13327 G C - DDX11L1 37102 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 NR_046018.2 1 1652 0 substitution exon GRCh37 13327 13327 Chr1(GRCh37):g.13327G>C 570 570 NR_046018.2:n.570G>C 3 107 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 rs2691329 yes no Frequency/1000G 2 C 0.000000 0 transversion G C G>C 0.567 -2.781 255 PASS 0.02 0.03 0.03 0.02 0.04 . . . . . . . . . . . 0.42708334 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -1.1546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.53 0.16 182 ENSG00000223972 DDX11L1 DDX11L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs144762171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 rs2691329 rs2691329 rs2691329 rs144762171 1 1538 10 1/0 0,250,255 +rs2691329 1 13327 G C - WASH7P 38034 WAS protein family homolog 7 pseudogene NR_024540.1 -1 1769 0 substitution downstream GRCh37 13327 13327 Chr1(GRCh37):g.13327G>C *1035 *1035 NR_024540.1:n.*1035C>G p.? p.? 11 1503 3' 93.5871 8.33551 0.970926 9.12405 93.5871 8.33551 0.970926 9.12405 0 rs2691329 yes no Frequency/1000G 2 C 0.000000 0 transversion C G C>G 0.567 -2.781 255 PASS 0.02 0.03 0.03 0.02 0.04 . . . . . . . . . . . 0.42708334 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -1.1546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.53 0.16 182 ENSG00000223972 DDX11L1 DDX11L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs144762171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 rs2691329 rs2691329 rs2691329 rs144762171 1 1538 10 1/0 0,250,255 +rs754322362 1 17379 G A - MIR6859-1 50039 MicroRNA 6859-1 NR_106918.1 -1 68 0 substitution exon GRCh37 17379 17379 Chr1(GRCh37):g.17379G>A 58 58 NR_106918.1:n.58C>T 1 rs754322362 yes no Frequency 1 G 0.000000 0 0.002906 0.000689 0.004831 0.003209 0.001175 0.003547 0.004134 0.000779 0.004338 0.004831 288 10 55 5 11 22 163 11 11 99096 14512 11384 1558 9362 6202 39426 14116 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 288 10 55 5 11 22 163 11 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.039 2.142 156 PASS . . . . . . . . . . . . . . . . 0.11057692 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 208.0 . . . . . . . . . . -0.0627 . . . . . . . . 6.152e-03 . . . 0 0.0132 0.0106 0 0 0.0199 0 0.0099 0 0.0067 0.0152 0 0.0048 0.0121 0 0.0103 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000227232 WASH7P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs754322362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0030 0.0048 0.0030 0.0014 0.0007 0.0039 0.0048 0.0035 0.0007 0.0027 0.0052 0.0042 0 0.0012 0.0046 0.0034 . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs754322362 1 17379 G A - MIR6859-2 49954 MicroRNA 6859-2 NR_107062.1 -1 68 0 substitution exon GRCh37 17379 17379 Chr1(GRCh37):g.17379G>A 58 58 NR_107062.1:n.58C>T 1 rs754322362 yes no Frequency 1 G 0.000000 0 0.002906 0.000689 0.004831 0.003209 0.001175 0.003547 0.004134 0.000779 0.004338 0.004831 288 10 55 5 11 22 163 11 11 99096 14512 11384 1558 9362 6202 39426 14116 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 288 10 55 5 11 22 163 11 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.039 2.142 156 PASS . . . . . . . . . . . . . . . . 0.11057692 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 208.0 . . . . . . . . . . -0.0627 . . . . . . . . 6.152e-03 . . . 0 0.0132 0.0106 0 0 0.0199 0 0.0099 0 0.0067 0.0152 0 0.0048 0.0121 0 0.0103 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000227232 WASH7P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs754322362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0030 0.0048 0.0030 0.0014 0.0007 0.0039 0.0048 0.0035 0.0007 0.0027 0.0052 0.0042 0 0.0012 0.0046 0.0034 . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs754322362 1 17379 G A - WASH7P 38034 WAS protein family homolog 7 pseudogene NR_024540.1 -1 1769 0 substitution intron GRCh37 17379 17379 Chr1(GRCh37):g.17379G>A 588-11 588-11 NR_024540.1:n.588-11C>T p.? p.? 6 5 -11 3' 81.5655 9.99893 0.740872 2.70769 85.6674 X.05 0.762739 8.55228 0.050322 Cryptic Acceptor Weakly Activated 17368 9.99893 0.740872 81.5655 X.05 0.762739 85.6674 rs754322362 yes no Frequency 1 G 0.000000 0 0.002906 0.000689 0.004831 0.003209 0.001175 0.003547 0.004134 0.000779 0.004338 0.004831 288 10 55 5 11 22 163 11 11 99096 14512 11384 1558 9362 6202 39426 14116 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 288 10 55 5 11 22 163 11 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.039 2.142 156 PASS . . . . . . . . . . . . . . . . 0.11057692 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 208.0 . . . . . . . . . . -0.0627 . . . . . . . . 6.152e-03 . . . 0 0.0132 0.0106 0 0 0.0199 0 0.0099 0 0.0067 0.0152 0 0.0048 0.0121 0 0.0103 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000227232 WASH7P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs754322362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0030 0.0048 0.0030 0.0014 0.0007 0.0039 0.0048 0.0035 0.0007 0.0027 0.0052 0.0042 0 0.0012 0.0046 0.0034 . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +. 1 24280 C T - WASH7P 38034 WAS protein family homolog 7 pseudogene NR_024540.1 -1 1769 0 substitution intron GRCh37 24280 24280 Chr1(GRCh37):g.24280C>T 204+458 204+458 NR_024540.1:n.204+458G>A p.? p.? 2 2 458 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 Cryptic Acceptor Strongly Activated 24269 2.4e-05 0.896121 1.3e-05 61.3977 transition G A G>A 0.000 -0.521 190 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||WASH7P|Non-coding_transcript|NON_CODING|NR_024540|) . . . . . . . -0.5380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.31 0.23 182 ENSG00000227232 WASH7P WASH7P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs4492552 rs4492552 rs4492552 rs4492552 1 1538 10 1/0 0,255,255 +rs11266852 1 24786 G A - WASH7P 38034 WAS protein family homolog 7 pseudogene NR_024540.1 -1 1769 0 substitution exon GRCh37 24786 24786 Chr1(GRCh37):g.24786G>A 156 156 NR_024540.1:n.156C>T 2 -49 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 6.90847 0 Cryptic Acceptor Strongly Activated 24772 0.762218 0.00392 72.2788 1.26595 0.005379 75.0517 rs11266852 no no 0 G 0.000000 0 transition C T C>T 0.992 2.546 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G52|WASH7P|Non-coding_transcript|NON_CODING|NR_024540|NR_024540.ex.2) . . . . . . . 0.8264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.62 0.46 182 ENSG00000227232 WASH7P WASH7P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11266852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs11266852 rs11266852 rs11266852 rs11266852 1 1538 10 1/0 0,255,255 +. 1 35332 G T - FAM138A 32334 Family with sequence similarity 138, member A NR_026818.1 -1 1130 0 substitution exon GRCh37 35332 35332 Chr1(GRCh37):g.35332G>T 511 511 NR_026818.1:n.511C>A 2 -56 5' 78.8739 8.00287 0.977684 0 78.8739 8.00287 0.977684 0 0 transversion C A C>A 0.161 0.125 176 PASS . . . . . . . . . . . . . . . . 0.10638298 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . . . . . . . . . -0.7102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000237613 FAM138F . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . LowAF 0.12 . . . . . . . . . . . . . III.07 . ENST00000417324 I.29 0.33 . 0.310000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.132 0.132000 . . 0.310000 . . 1.0E-176 . . . . . . . . . 0.132 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 35660 T C - FAM138A 32334 Family with sequence similarity 138, member A NR_026818.1 -1 1130 0 substitution intron GRCh37 35660 35660 Chr1(GRCh37):g.35660T>C 361+61 361+61 NR_026818.1:n.361+61A>G p.? p.? 1 1 61 5' 95.872 9.66448 0.99852 5.32632 95.872 9.66448 0.99852 5.37119 0 transition A G A>G 0.000 -0.440 245 PASS . . . . . . . . . . . . . . . . 0.29545453 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.2389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.39 0.32 182 ENSG00000237613 FAM138F . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . rs3888760 rs3888760 rs3888760 rs3888760 1 1538 10 1/0 0,255,255 +rs771537983 (chr1:138565 G/A) 1 138565 G A Not on a known gene +. (chr1:228505 T/C) 1 228505 T C Not on a known gene +. (chr1:228581 G/T) 1 228581 G T Not on a known gene +. (chr1:228593 C/T) 1 228593 C T Not on a known gene +. (chr1:325046 C/G) 1 325046 C G Not on a known gene +. (chr1:325352 G/T) 1 325352 G T Not on a known gene +. (chr1:325808 C/T) 1 325808 C T Not on a known gene +. (chr1:465248 A/G) 1 465248 A G Not on a known gene +. (chr1:465263 A/G) 1 465263 A G Not on a known gene +. (chr1:471145 G/T) 1 471145 G T Not on a known gene +. 1 621074 T C - OR4F16 15079 Olfactory receptor, family 4, subfamily F, member 16 NM_001005277.1 -1 939 939 NP_001005277.1 Q6IEY1 substitution downstream GRCh37 621074 621074 Chr1(GRCh37):g.621074T>C *22 *22 NM_001005277.1:c.*22A>G p.? p.? 1 transition A G A>G 0.000 -0.037 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . . . . . . . . . -0.2157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic downstream downstream . . . @ . . . 0.46 0.63 182 ENSG00000230021 OR4F29 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs2808347 rs2808347 rs2808347 rs2808347 1 1538 10 1/0 0,255,255 +. 1 621074 T C - OR4F29 31275 Olfactory receptor, family 4, subfamily F, member 29 NM_001005221.2 -1 939 939 NP_001005221.2 Q6IEY1 substitution downstream GRCh37 621074 621074 Chr1(GRCh37):g.621074T>C *22 *22 NM_001005221.2:c.*22A>G p.? p.? 1 transition A G A>G 0.000 -0.037 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . . . . . . . . . -0.2157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic downstream downstream . . . @ . . . 0.46 0.63 182 ENSG00000230021 OR4F29 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs2808347 rs2808347 rs2808347 rs2808347 1 1538 10 1/0 0,255,255 +. (chr1:675341 G/T) 1 675341 G T Not on a known gene +rs143324306 1 979397 G A - AGRN 329 Agrin NM_001305275.1 1 7395 6207 NP_001292204.1 substitution missense exon GRCh37 979397 979397 Chr1(GRCh37):g.979397G>A 1993 1993 NM_001305275.1:c.1993G>A p.Glu665Lys p.Glu665Lys 10 103320 -7 5' 74.8734 7.26168 0.542276 8.68208 74.8734 7.26168 0.800835 8.28512 0.158934 rs143324306 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003299 0.000172 0.000556 0.001699 0.000108 0.000000 0.004343 0.012135 0.004924 0.012135 886 4 19 17 2 0 532 281 31 268550 23280 34144 10006 18578 30594 122496 23156 6296 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000259 0.000318 6 0 0 0 0 0 2 3 1 874 4 19 17 2 0 528 275 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4388 12938 30 0 30 0.0034965 0 0.00231339 0.0034965 0 0.00231339 27 RCV000192681.3 germline|germline clinical testing|clinical testing Conflicting interpretations of pathogenicity 1 not specified transition G A G>A 1.000 5.048 E Glu GAG 0.583 K Lys AAG 0.575 665 12 8 Tetraodon 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 222.52 39.90 Deleterious 0 IV.32 255 PASS . 0.0018 . . 0.01 . 0.001 . . 0.005 . ENSG00000188157:ENST00000379370:exon10:c.G1993A:p.E665K AGRN:uc001ack.2:exon10:c.G1993A:p.E665K AGRN:NM_198576:exon10:c.G1993A:p.E665K . . 0.46226415 . . germline 49 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.623 . Conflicting//\@interpretations//\@of//\@pathogenicity other RCV000192681.2 not_specified MedGen CN169374 1 0.904 . . 106.0 . . . . 0.0023 0.0035 . 0.0023 0.0035 . 0.3195 0.269 0.320 c . . . . . 3.172e-03 . . . 0.0001 0.0022 0.0003 0 0.0146 0.0034 0.0031 0 0.0001 0.0031 0.0003 0 0.0144 0.0043 0.0084 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.530 0.0010 . . . 0.4 0.29 182 ENSG00000188157 AGRN AGRN . . . 1.000 0.747 . 136 0.00209308 64976 132 0.00220051 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.331 . . 0.225 . . . 0.214 0.548 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.518 . . 0 0 0 0 1 0 . 0.899 . . 0.679 . . . . . . 0 0.129 . . . . . 0.850 . 0.512 . HET 0.08 rs143324306 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 16.6583 0.0 ENST00000379370 IV.44 IV.44 . 0.160000 O00468 . . . 0.002313 . 0.943 . . IV.44 0.0001 0.0028 0.0005 0.0018 0.0001 0.0118 0.0035 0.0034 0 0.0002 0.0070 0.0012 0 0 0.0137 0.0101 0.0133 . . 0.730 . 2.009 2.009000 . . 0.160000 . . 1.0E-255 1.000 0.715 . 0.235 0.674 . 0.821 . 0.551 2.009 0.917 0.01 . . rs143324306 rs143324306 1 1538 10 1/0 0,255,255 +rs1781144 1 1387667 C G - ATAD3C 32151 ATPase family, AAA domain containing 3C NM_001039211.2 1 3859 1236 NP_001034300.2 Q5T2N8 substitution intron GRCh37 1387667 1387667 Chr1(GRCh37):g.1387667C>G 153-78 153-78 NM_001039211.2:c.153-78C>G p.? p.? 3 2 617227 -78 3' 89.4954 X.72 0.982861 7.81794 89.4954 X.72 0.982861 7.89616 0 rs1781144 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30905 8726 836 302 1622 0 14949 3494 976 30906 8726 836 302 1622 0 14950 3494 976 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15452 4363 418 151 811 0 7474 1747 488 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 47 Genomes transversion C G C>G 0.000 -0.521 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 366 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 366.0 . . INTRON(MODIFIER||||ATAD3C|mRNA|CODING|NM_001039211|) . . . . . . . -0.3251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.16 0.22 182 ENSG00000215915 ATAD3C ATAD3C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1781144 0.989 0.986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1781144 rs1781144 rs1781144 rs1781144 1 1538 255 1.I 0,0,255 +rs372710996 1 1395402 C T - ATAD3C 32151 ATPase family, AAA domain containing 3C NM_001039211.2 1 3859 1236 NP_001034300.2 Q5T2N8 substitution intron GRCh37 1395402 1395402 Chr1(GRCh37):g.1395402C>T 813-728 813-728 NM_001039211.2:c.813-728C>T p.? p.? 10 9 617227 -728 3' 75.5926 X.36 0.896944 14.1029 75.5926 X.36 0.896944 14.1029 0 rs372710996 yes no Frequency/1000G 2 C 0.000000 0 0.391773 0.658100 0.288300 0.592300 0.048700 0.236300 transition C T C>T 0.000 -2.458 255 PASS . . . . . 0.66 0.39 0.24 0.59 0.049 0.29 . . . . . 0.4117647 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||ATAD3C|mRNA|CODING|NM_001039211|) . . . . . . . -0.8911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3918 . . . . . . ENSG00000215915 ATAD3C ATAD3C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372710996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372710996 . 1 1538 10 1/0 0,255,255 +rs375327545 1 1395403 A G - ATAD3C 32151 ATPase family, AAA domain containing 3C NM_001039211.2 1 3859 1236 NP_001034300.2 Q5T2N8 substitution intron GRCh37 1395403 1395403 Chr1(GRCh37):g.1395403A>G 813-727 813-727 NM_001039211.2:c.813-727A>G p.? p.? 10 9 617227 -727 3' 75.5926 X.36 0.896944 14.1029 75.5926 X.36 0.896944 14.1029 0 Cryptic Donor Strongly Activated 1395403 0.002396 56.6572 II.61 0.078367 68.7933 rs375327545 yes no Frequency/1000G 2 0.000000 0 0.391773 0.658100 0.288300 0.592300 0.048700 0.236300 transition A G A>G 0.000 -1.005 255 PASS . . . . . 0.66 0.39 0.24 0.59 0.049 0.29 . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||ATAD3C|mRNA|CODING|NM_001039211|) . . . . . . . -0.5345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3918 . . . . . . ENSG00000215915 ATAD3C ATAD3C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375327545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375327545 . 1 1538 10 1/0 0,255,255 +rs369885742 1 1395404 G C - ATAD3C 32151 ATPase family, AAA domain containing 3C NM_001039211.2 1 3859 1236 NP_001034300.2 Q5T2N8 substitution intron GRCh37 1395404 1395404 Chr1(GRCh37):g.1395404G>C 813-726 813-726 NM_001039211.2:c.813-726G>C p.? p.? 10 9 617227 -726 3' 75.5926 X.36 0.896944 14.1029 75.5926 X.36 0.896944 14.1029 0 rs369885742 yes no Frequency/1000G 2 0.000000 0 0.391773 0.658100 0.288300 0.592300 0.048700 0.236300 transversion G C G>C 0.000 -1.005 255 PASS . . . . . 0.66 0.39 0.24 0.59 0.049 0.29 . . . . . 0.41666666 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||ATAD3C|mRNA|CODING|NM_001039211|) . . . . . . . -0.4942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3918 . . . . . . ENSG00000215915 ATAD3C ATAD3C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369885742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369885742 . 1 1538 10 1/0 0,255,255 +rs765533696 1 1571285 G A - MMP23A 7170 Matrix metallopeptidase 23A (pseudogene) NR_002946.1 1 906 0 substitution downstream GRCh37 1571285 1571285 Chr1(GRCh37):g.1571285G>A *1258 *1258 NR_002946.1:n.*1258G>A p.? p.? 6 603320 1459 3' 74.7037 8.80582 0.729852 2.95348 74.7037 8.80582 0.729852 2.95348 0 rs765533696 no no 0 0.000000 0 0.005885 0.001214 0.006034 0.000000 0.000543 0.002044 0.011118 0.006410 0.008174 0.011118 146 4 22 0 2 7 103 2 6 24808 3294 3646 450 3684 3424 9264 312 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146 4 22 0 2 7 103 2 6 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.19166666 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 120.0 . . . . . . . . . . 0.7728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.59 0.33 182 ENSG00000248333 CDK11B CDK11B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs765533696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0059 0.0060 0 0.0005 0.0064 0.0111 0.0082 0.0020 0 0 . 0 . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs9439488 rs9439488 rs9439488 rs9439488 1 1538 10 1/0 0,227,255 +rs765533696 1 1571285 G A - MMP23B 7171 Matrix metallopeptidase 23B NM_006983.1 1 1240 1173 NP_008914.1 O75900 substitution downstream GRCh37 1571285 1571285 Chr1(GRCh37):g.1571285G>A *1284 *1284 NM_006983.1:c.*1284G>A p.? p.? 8 603321 1459 3' 74.7037 8.80582 0.729852 2.95348 74.7037 8.80582 0.729852 2.95348 0 rs765533696 no no 0 0.000000 0 0.005885 0.001214 0.006034 0.000000 0.000543 0.002044 0.011118 0.006410 0.008174 0.011118 146 4 22 0 2 7 103 2 6 24808 3294 3646 450 3684 3424 9264 312 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146 4 22 0 2 7 103 2 6 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.19166666 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 120.0 . . . . . . . . . . 0.7728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.59 0.33 182 ENSG00000248333 CDK11B CDK11B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs765533696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0059 0.0060 0 0.0005 0.0064 0.0111 0.0082 0.0020 0 0 . 0 . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs9439488 rs9439488 rs9439488 rs9439488 1 1538 10 1/0 0,227,255 +rs777641597 (chr1:1577264 T/C) 1 1577264 T C Not on a known gene +rs113499489 1 1599974 A C - SLC35E2B 33941 Solute carrier family 35, member E2B NM_001110781.2 -1 6003 1218 NP_001104251.1 P0CK96 substitution intron GRCh37 1599974 1599974 Chr1(GRCh37):g.1599974A>C 835-63 835-63 NM_001110781.2:c.835-63T>G p.? p.? 8 7 -63 3' 80.2248 8.94762 0.954071 7.45855 80.2248 8.94762 0.954071 7.20888 0 rs113499489 no no 0 A 0.000000 0 0.006166 0.001205 0.004021 0.023364 0.007133 0.000000 0.008919 0.006679 0.011166 0.023364 162 10 3 5 10 0 104 21 9 26272 8300 746 214 1402 0 11660 3144 806 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 162 10 3 5 10 0 104 21 9 0 0 0 0 0 0 0 0 0 RF 54 Genomes transversion T G T>G 0.000 -1.247 205 PASS . . . . . . . . . . . . . . . . 0.17460318 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.2972 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.04 182 ENSG00000189339 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113499489 . 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0062 0.0040 0.0234 0.0071 0.0067 0.0089 0.0112 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . rs72634821 rs113499489 rs113499489 1 1538 10 1/0 0,253,255 +. 1 1601374 G A - SLC35E2B 33941 Solute carrier family 35, member E2B NM_001110781.2 -1 6003 1218 NP_001104251.1 P0CK96 substitution intron GRCh37 1601374 1601374 Chr1(GRCh37):g.1601374G>A 761+163 761+163 NM_001110781.2:c.761+163C>T p.? p.? 6 6 163 5' 78.1779 9.63223 0.981048 0 78.1779 9.63223 0.981048 0 0 0.000032 0.000000 0.000000 0.000000 0.000619 0.000000 0.000000 0.000000 0.000000 0.000619 1 0 0 0 1 0 0 0 0 30944 8724 838 302 1616 0 14990 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.5483871 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.1137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5\x3bUTR3 intronic . . . @ . . . . . . ENSG00000189339 SLC35E2B\x3bSLC35E2B . . uc001ahe.4:c.-91C>T\x3buc021oeu.1:c.*159C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.232e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201419561 1 1645113 T C - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 substitution intron GRCh37 1645113 1645113 Chr1(GRCh37):g.1645113T>C 459-1274 459-1274 NM_001313896.1:c.459-1274A>G p.? p.? 6 5 116951 -1274 3' 86.4059 8.12015 0.836788 2.13731 86.4059 8.12015 0.836788 2.13731 0 rs201419561 yes no Frequency/1000G 2 0.000000 0 0.290136 0.034000 0.340500 0.449400 0.365800 0.366000 0.006972 0.001514 0.014085 0.032258 0.008734 0.000000 0.022698 0.010504 0.004717 0.032258 57 8 2 2 4 0 35 5 1 8176 5284 142 62 458 0 1542 476 212 0.035088 0.000000 0.500000 0.000000 0.000000 0.000000 0.028571 0.000000 0.000000 2 0 1 0 0 0 1 0 0 53 8 0 2 4 0 33 5 1 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition A G A>G 0.043 -0.440 111 PASS . . . . . 0.034 0.29 0.37 0.45 0.37 0.34 . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . -0.3954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.2901 . . . 0.19 0.12 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs201419561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0070 0.0141 0.0323 0.0087 0.0105 0.0227 0.0047 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs201419561 rs201419561 1 1538 255 1.I 0,0,255 +rs201419561 1 1645113 T C - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 substitution intron GRCh37 1645113 1645113 Chr1(GRCh37):g.1645113T>C 2651 2651 NM_033490.2:c.-21+2672A>G p.? p.? 5 5 176873 2672 5' 95.331 X.37 0.994677 8.06472 95.331 X.37 0.994677 8.06472 0 rs201419561 yes no Frequency/1000G 2 0.000000 0 0.290136 0.034000 0.340500 0.449400 0.365800 0.366000 0.006972 0.001514 0.014085 0.032258 0.008734 0.000000 0.022698 0.010504 0.004717 0.032258 57 8 2 2 4 0 35 5 1 8176 5284 142 62 458 0 1542 476 212 0.035088 0.000000 0.500000 0.000000 0.000000 0.000000 0.028571 0.000000 0.000000 2 0 1 0 0 0 1 0 0 53 8 0 2 4 0 33 5 1 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition A G A>G 0.043 -0.440 111 PASS . . . . . 0.034 0.29 0.37 0.45 0.37 0.34 . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . -0.3954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.2901 . . . 0.19 0.12 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs201419561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0070 0.0141 0.0323 0.0087 0.0105 0.0227 0.0047 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs201419561 rs201419561 1 1538 255 1.I 0,0,255 +. 1 1647893 C CTTTCTA - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 insertion in-frame exon GRCh37 1647893 1647894 Chr1(GRCh37):g.1647893_1647894insTTTCTA 349 350 NM_001313896.1:c.349_350insTAGAAA p.Glu116_Arg117insIleGlu p.Glu116_Arg117insIleGlu 5 116951 24 3' 87.6544 7.34789 0.890883 9.72654 87.6544 7.34789 0.890883 9.57755 0 TAGAAA 255 Pass . . . . . . . . . . . . . . . . 0.37606838 . . . 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic\x3bsplicing exonic . . . . . . . . . . ENSG00000008128 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,42 +. 1 1647893 C CTTTCTA - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 insertion 5'UTR GRCh37 1647893 1647894 Chr1(GRCh37):g.1647893_1647894insTTTCTA -130 -129 NM_033490.2:c.-130_-129insTAGAAA p.? p.? 5 176873 24 3' 87.6544 7.34789 0.890883 9.44848 87.6544 7.34789 0.890883 9.29277 0 TAGAAA 255 Pass . . . . . . . . . . . . . . . . 0.37606838 . . . 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic\x3bsplicing exonic . . . . . . . . . . ENSG00000008128 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,42 +rs201741924 1 1650939 G A - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 substitution intron GRCh37 1650939 1650939 Chr1(GRCh37):g.1650939G>A 228-45 228-45 NM_001313896.1:c.228-45C>T p.? p.? 4 3 116951 -45 3' 90.0597 8.53152 0.681444 1.94021 90.0597 8.53152 0.681444 2.38034 0 1650936 -13.8503 rs201741924 yes no Frequency 1 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000014 0.000000 0.000000 0.000014 1 0 0 0 0 0 1 0 0 132798 9820 10658 2982 7754 10826 70906 17590 2262 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 250 Exomes transition C T C>T 0.000 -2.781 255 PASS . . . . . . . . . . . . . . . . 0.3548387 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.9671 . . . . . . . . 1.819e-04 . . . 0 0.0086 . . . 0.0179 . 0 0 0.0086 . 0 . 0.0185 . 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.1 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201741924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.53e-06 0 0 0 0 1.41e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201741924 rs201741924 1 1538 10 1/0 0,255,255 +rs201741924 1 1650939 G A - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 substitution intron GRCh37 1650939 1650939 Chr1(GRCh37):g.1650939G>A -326 -326 NM_033490.2:c.-281-45C>T p.? p.? 4 3 176873 -45 3' 90.0597 8.53152 0.681444 2.24471 90.0597 8.53152 0.681444 2.68483 0 1650936 -13.8503 rs201741924 yes no Frequency 1 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000014 0.000000 0.000000 0.000014 1 0 0 0 0 0 1 0 0 132798 9820 10658 2982 7754 10826 70906 17590 2262 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 250 Exomes transition C T C>T 0.000 -2.781 255 PASS . . . . . . . . . . . . . . . . 0.3548387 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.9671 . . . . . . . . 1.819e-04 . . . 0 0.0086 . . . 0.0179 . 0 0 0.0086 . 0 . 0.0185 . 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.1 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201741924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.53e-06 0 0 0 0 1.41e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201741924 rs201741924 1 1538 10 1/0 0,255,255 +rs74345479 1 1650940 G A - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 substitution intron GRCh37 1650940 1650940 Chr1(GRCh37):g.1650940G>A 228-46 228-46 NM_001313896.1:c.228-46C>T p.? p.? 4 3 116951 -46 3' 90.0597 8.53152 0.681444 1.94021 90.0597 8.53152 0.681444 1.82376 0 rs74345479 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132816 9832 10662 2986 7752 10826 70914 17584 2260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 250 Exomes transition C T C>T 0.000 -0.198 251 PASS . . . . . . . . . . . . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.1490 . . . . . . . . 7.677e-04 . . . 0 0.0002 0 0.0003 0 6.979e-05 0 0.0009 0 0.0001 0 0.0002 0 5.343e-05 0 0.0009 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.38 0.05 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74345479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs74345479 rs74345479 1 1538 10 1/0 0,255,255 +rs74345479 1 1650940 G A - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 substitution intron GRCh37 1650940 1650940 Chr1(GRCh37):g.1650940G>A -327 -327 NM_033490.2:c.-281-46C>T p.? p.? 4 3 176873 -46 3' 90.0597 8.53152 0.681444 2.24471 90.0597 8.53152 0.681444 2.12825 0 rs74345479 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132816 9832 10662 2986 7752 10826 70914 17584 2260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 250 Exomes transition C T C>T 0.000 -0.198 251 PASS . . . . . . . . . . . . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.1490 . . . . . . . . 7.677e-04 . . . 0 0.0002 0 0.0003 0 6.979e-05 0 0.0009 0 0.0001 0 0.0002 0 5.343e-05 0 0.0009 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.38 0.05 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74345479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs74345479 rs74345479 1 1538 10 1/0 0,255,255 +rs75972011 1 1650942 A G - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 substitution intron GRCh37 1650942 1650942 Chr1(GRCh37):g.1650942A>G 228-48 228-48 NM_001313896.1:c.228-48T>C p.? p.? 4 3 116951 -48 3' 90.0597 8.53152 0.681444 1.94021 90.0597 8.53152 0.681444 2.04152 0 rs75972011 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132072 9830 10644 2890 7756 10526 70656 17532 2238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 238 Exomes transition T C T>C 0.000 0.125 253 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.1792 . . . . . . . . 1.613e-05 . . . 0 2.462e-05 0 0 0 0 0 0.0002 0 2.069e-05 0 0 0 0 0 0.0002 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.45 0.1 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75972011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . rs75972011 rs75972011 1 1538 10 1/0 0,255,255 +rs75972011 1 1650942 A G - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 substitution intron GRCh37 1650942 1650942 Chr1(GRCh37):g.1650942A>G -329 -329 NM_033490.2:c.-281-48T>C p.? p.? 4 3 176873 -48 3' 90.0597 8.53152 0.681444 2.24471 90.0597 8.53152 0.681444 2.34601 0 rs75972011 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132072 9830 10644 2890 7756 10526 70656 17532 2238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 238 Exomes transition T C T>C 0.000 0.125 253 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.1792 . . . . . . . . 1.613e-05 . . . 0 2.462e-05 0 0 0 0 0 0.0002 0 2.069e-05 0 0 0 0 0 0.0002 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.45 0.1 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75972011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . rs75972011 rs75972011 1 1538 10 1/0 0,255,255 +rs144624776 1 1696774 C T - NADK 29831 NAD kinase NM_001198994.1 -1 3653 1776 NP_001185923.1 substitution synonymous exon GRCh37 1696774 1696774 Chr1(GRCh37):g.1696774C>T 72 72 NM_001198994.1:c.72G>A p.Ser24= p.Ser24Ser 2 611616 -108 5' 71.7343 7.09191 0.893688 4.90423 71.7343 7.09191 0.893688 4.90423 0 New Acceptor Site 1696772 0.906692 0.29148 77.7787 rs144624776 yes no Frequency/1000G 2 C 0.000000 0 0.000759 0.000250 0.000262 0.000000 0.000000 0.000000 0.001312 0.000892 0.000929 0.001312 210 6 9 0 0 0 166 23 6 276854 24014 34388 10142 18822 30740 126504 25788 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 210 6 9 0 0 0 166 23 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 50 transition G A G>A 0.000 -2.458 S Ser TCG 0.056 S Ser TCA 0.148 24 255 PASS . 0.0005 . . 0.0013 . . . . . . . . . . . 0.5645161 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . -0.1386 . . . . . . . . 7.183e-04 . . . 9.692e-05 0.0007 0 0 0.0024 0.0012 0 0 0.0001 0.0007 0 0 0.0020 0.0010 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.25 182 ENSG00000008130 NADK NADK . . . . . . 46 0.000707954 64976 46 0.000766846 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144624776 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . . 6.543e-05 0.0008 0.0003 0 0 0.0009 0.0014 0.0011 0 0.0006 0.0007 0 0 0 0.0011 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs144624776 rs144624776 1 1538 10 1/0 0,255,255 +rs41310347 1 1897894 C T - CFAP74 29368 Cilia and flagella associated protein 74 NM_001304360.1 -1 5412 4920 NP_001291289.1 substitution synonymous exon GRCh37 1897894 1897894 Chr1(GRCh37):g.1897894C>T 1317 1317 NM_001304360.1:c.1317G>A p.Gly439= p.Gly439Gly 12 72 3' 81.7128 9.23855 0.807878 8.24605 81.7128 9.23855 0.807878 8.41632 0 rs41310347 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000795 0.000296 0.000364 0.000000 0.000000 0.000000 0.001352 0.000855 0.000958 0.001352 216 7 12 0 0 0 169 22 6 271636 23610 32998 10068 18202 29754 125012 25726 6266 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 216 7 12 0 0 0 169 22 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8185 3756 11941 9 0 9 0.00109836 0 0.000753138 0.00109836 0 0.000753138 38 COSM4525219 Skin 0.000812 1232 transition G A G>A 0.000 -0.037 G Gly GGG 0.250 G Gly GGA 0.246 439 255 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000142609:ENST00000604159:exon1:c.G72A:p.G24G . CFAP74:NM_001304360:exon12:c.G1317A:p.G439G . . 0.5833333 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 60.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G439|CFAP74|mRNA|CODING|NM_001304360|NM_001304360.ex.12) . 0.0008 0.0011 . 0.0008 0.0011 . 0.0980 . . . . . . . . 7.823e-04 . . . 0.0002 0.0007 8.857e-05 0 0.0022 0.0013 0 0 0.0001 0.0007 9.126e-05 0 0.0019 0.0012 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.14 0.33 182 ENSG00000142609 KIAA1751 CFAP74 . . . . . . 51 0.000784905 64976 50 0.000833528 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41310347 . . . . . . . . . . . . . . . . . . . . . . . 0.000753 . . . . . 0.0001 0.0008 0.0004 0 0 0.0008 0.0014 0.0011 0 0.0006 0.0008 0 0 0 0.0011 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0011 rs41310347 rs41310347 rs41310347 rs41310347 1 1538 10 1/0 0,255,255 +rs201806222 1 2451865 C G - PANK4 19366 Pantothenate kinase 4 NM_018216.2 -1 2679 2346 NP_060686.2 substitution intron GRCh37 2451865 2451865 Chr1(GRCh37):g.2451865C>G 631-12 631-12 NM_018216.2:c.631-12G>C p.? p.? 5 4 606162 -12 3' 86.7429 10.059 0.973001 9.30602 89.2804 XI.36 0.985742 XI.48 0.0689447 rs201806222 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.002692 0.000042 0.000233 0.000000 0.000000 0.000000 0.002117 0.016917 0.005309 0.016917 739 1 8 0 0 0 264 432 34 274508 23822 34378 10074 18796 30770 124728 25536 6404 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000235 0.000312 4 0 0 0 0 0 0 3 1 729 1 8 0 0 0 263 425 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -2.377 255 PASS . . . . . . 0.001 . . 0.005 . . . . . . 0.484375 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||PANK4|mRNA|CODING|NM_018216|) . . . . . . . -0.0275 . . . . . . . . 2.371e-03 . . . 0.0001 0.0016 0 0 0.0186 0.0016 0.0030 0 0.0001 0.0024 0 0 0.0185 0.0024 0.0074 0 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.37 0.11 182 ENSG00000157881 PANK4 PANK4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201806222 . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . 0 0.0026 0.0002 0 0 0.0171 0.0019 0.0048 0 0.0001 0.0038 0 0 0 0.0160 0.0034 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201806222 rs201806222 1 1538 10 1/0 0,255,255 +rs200586965 1 2519917 G T - FAM213B 28390 Family with sequence similarity 213, member B NM_001195736.1 1 2829 741 NP_001182665.1 substitution intron GRCh37 2519917 2519917 Chr1(GRCh37):g.2519917G>T 528+25 528+25 NM_001195736.1:c.528+25G>T p.? p.? 4 4 25 5' 85.1573 6.63725 0.976103 7.58136 85.1573 6.63725 0.976103 7.22898 0 rs200586965 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001805 0.000042 0.000232 0.000000 0.000000 0.000000 0.001320 0.011674 0.003557 0.011674 500 1 8 0 0 0 167 301 23 277022 24022 34416 10142 18868 30782 126542 25784 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 500 1 8 0 0 0 167 301 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4405 12990 15 1 16 0.00174419 0.000226963 0.0012302 0.00174419 0.000226963 0.0012302 94 transversion G T G>T 0.000 -0.117 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.49746192 . . @ 98 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . . 0.0002 0.0012 0.0017 0.0002 0.0012 0.0017 . 0.8874 . . . . . . . . 1.760e-03 . . . 9.653e-05 0.0011 0 0 0.0137 0.0012 0 0 0.0001 0.0017 0 0 0.0136 0.0016 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.35 0.11 182 ENSG00000157870 FAM213B FAM213B . . . . . . 99 0.00152364 64976 97 0.00161704 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200586965 . . . . . . . . . . . . . . . . . . . . . . . 0.001230 . . . . . 0 0.0018 0.0002 0 0 0.0120 0.0013 0.0035 0 0.0001 0.0020 0 0 0 0.0097 0.0016 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs200586965 rs200586965 1 1538 10 1/0 0,228,242 +rs113192826 1 3410935 G A - MEGF6 3232 Multiple EGF-like-domains 6 NM_001409.3 -1 7439 4626 NP_001400.3 O75095 substitution missense exon GRCh37 3410935 3410935 Chr1(GRCh37):g.3410935G>A 4129 4129 NM_001409.3:c.4129C>T p.Pro1377Ser p.Pro1377Ser 32 604266 -1 5' 73.1057 9.39938 0.893536 XII.41 73.8017 7.93713 0.858684 XI.25 -0.0616839 EGF-like, laminin Epidermal growth factor-like rs113192826 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008900 0.001400 0.006576 0.001974 0.002460 0.001086 0.000085 0.002900 0.012658 0.004812 0.004748 0.012658 1094 31 61 9 1 66 850 54 22 166350 15708 24798 8286 11792 22758 67152 11222 4634 0.000084 0.000000 0.000000 0.000000 0.000000 0.000176 0.000149 0.000000 0.000000 7 0 0 0 0 2 5 0 0 1080 31 61 9 1 62 840 54 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7890 3761 11651 78 7 85 0.00978916 0.00185775 0.00724267 0.00978916 0.00185775 0.00724267 8 transition C T C>T 0.000 -3.265 P Pro CCC 0.328 S Ser TCC 0.220 1377 11 3 Macaque -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 115.50 0.00 Tolerated 0.76 III.63 good 9.805E-1 0.06277 255 PASS . 0.0023 . . 0.01 . 0.002 0.0014 . 0.0089 . . . MEGF6:NM_001409:exon32:c.C4129T:p.P1377S . . 0.5277778 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.031 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P1377S|MEGF6|mRNA|CODING|NM_001409|NM_001409.ex.32) 0.0019 0.0072 0.0098 0.0019 0.0072 0.0098 . -1.4356 -1.543 -1.436 c . . . . . 3.704e-03 . . . 0.0012 0.0073 0 0 0 0.0152 0 0.0035 0.0014 0.0067 0 0 0.0357 0.0155 0 0.0035 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.344 . . exonic exonic exonic . . 0.014 0.0020 . . . 0.15 0.5 182 ENSG00000162591 MEGF6 MEGF6 . . . 1.000 0.747 . 525 0.00807991 64976 515 0.00858534 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.095 . . 0.209 . . . 0.918 0.197 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.102 . . 0.080 . . . . . . 0 0.477 . . . . . 0.010 . 0.058 . HET 0.84 rs113192826 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 0.8174 0.002597 ENST00000294599 III.58 -7.16 . . O75095-2 0.0004 0.242 . 0.007243 . 0.021 . . . 0.0020 0.0066 0.0025 0.0010 9.833e-05 0.0056 0.0132 0.0046 0.0029 0.0019 0.0063 0.0024 0.0033 0 0.0032 0.0106 0.0051 . . 0.495 . -2.002 -2.002000 . . . . . 1.0E-255 0.000 0.063 . 0.282 0.261 . 0.002 . 0.021 -2.002 -2.151 0.01 . . rs113192826 rs113192826 1 1538 10 1/0 0,255,255 +rs201491183 1 3548911 C T - WRAP73 12759 WD repeat containing, antisense to TP73 NM_017818.3 -1 1699 1383 NP_060288.3 Q9P2S5 substitution intron GRCh37 3548911 3548911 Chr1(GRCh37):g.3548911C>T 923-9 923-9 NM_017818.3:c.923-9G>A p.? p.? 10 9 606040 -9 3' 78.0206 9.98924 0.395891 3.40671 77.9524 9.22018 0.341499 2.48564 -0.0717518 rs201491183 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.006100 0.000000 0.002000 0.000000 0.002446 0.000125 0.000407 0.020390 0.000053 0.009584 0.001129 0.000000 0.002319 0.020390 678 3 14 207 1 295 143 0 15 277204 24030 34420 10152 18870 30782 126690 25792 6468 0.000036 0.000000 0.000000 0.000394 0.000000 0.000195 0.000000 0.000000 0.000000 5 0 0 2 0 3 0 0 0 668 3 14 203 1 289 143 0 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4406 12989 17 0 17 0.00197674 0 0.00130709 0.00197674 0 0.00130709 171 COSM328032 Pancreas 0.000569 1758 transition G A G>A 0.000 -2.297 255 PASS . 0.0005 . . 0.0013 . 0.0016 . . 0.002 0.0061 . . . . . 0.4050633 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . 0.0013 0.002 . 0.0013 0.002 . 0.0855 . . . . . . . . 2.447e-03 . . . 0 0.0031 0.0006 0 0 0.0029 0.0014 0.0094 0 0.0027 0.0006 0 0 0.0023 0 0.0094 . . . . . . intronic UTR3 intronic . . . 0.0016 . . . 0.3 0.25 182 ENSG00000116213 WRAP73 WRAP73 . uc010nzi.2:c.*4525G>A . . . . 69 0.00106193 64976 61 0.0010169 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201491183 . . . . . . ID\x3dCOSM328032\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . 0.0001 0.106 . 0.001307 . . . . . 6.534e-05 0.0026 0.0004 0.0202 5.798e-05 0 0.0011 0.0026 0.0096 0.0002 0.0011 0.0012 0.0265 0 0 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs201491183 rs201491183 1 1538 10 1/0 0,255,255 +. 1 3789178 G GGGCCCTGTCCCTGCCGC - DFFB 2773 DNA fragmentation factor subunit beta NM_001282669.1 1 3114 1089 NP_001269598.1 insertion intron GRCh37 3789194 3789195 Chr1(GRCh37):g.3789194_3789195insCGGCCCTGTCCCTGCCG 854+58 854+59 NM_001282669.1:c.854+58_854+59insCGGCCCTGTCCCTGCCG p.? p.? 6 6 601883 58 5' 81.6064 5.61347 0.847317 3.74559 81.6064 5.61347 0.847317 3.56022 0 rs202183040 yes no Frequency/1000G 2 0.000000 0 0.000212 0.000325 0.000000 0.000000 0.000000 0.000000 0.000262 0.000000 0.000000 0.000325 2 1 0 0 0 0 1 0 0 9454 3078 384 106 842 0 3822 948 274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 138 Genomes CGGCCCTGTCCCTGCCG 255 Pass . . . . . . . . . . . . . . . . 0.26136363 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 88 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000169598 DFFB DFFB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202183040 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv509590 . . . . . . . . . . . . . . . 0.0003 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,58 +rs11581401 1 3789195 T C - DFFB 2773 DNA fragmentation factor subunit beta NM_001282669.1 1 3114 1089 NP_001269598.1 substitution intron GRCh37 3789195 3789195 Chr1(GRCh37):g.3789195T>C 854+59 854+59 NM_001282669.1:c.854+59T>C p.? p.? 6 6 601883 59 5' 81.6064 5.61347 0.847317 3.74559 81.6064 5.61347 0.847317 III.73 0 rs11581401 yes no Frequency/1000G 2 C 0.000000 0 0.425519 0.454600 0.458100 0.282700 0.519900 0.394800 0.002758 0.003269 0.001202 0.000000 0.004375 0.000000 0.002656 0.001735 0.003138 0.004375 83 27 1 0 7 0 39 6 3 30092 8260 832 300 1600 0 14686 3458 956 0.012048 0.037037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 62 17 1 0 5 0 32 5 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition T C T>C 0.000 -1.893 111 PASS 0.4 0.4 0.4 0.26 0.52 0.45 0.43 0.39 0.28 0.52 0.46 . . . . . 1.0 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.8494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4255 . . . 0.1 0.06 182 ENSG00000169598 DFFB DFFB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11581401 0.217 0.217 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv509590 . . . . . . . . . . . . . . . 0.0033 0.0028 0.0012 0 0.0044 0.0017 0.0027 0.0031 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.52 rs11581401 rs11581401 rs11581401 rs11581401 1 1538 255 1.I 0,0,255 +rs557447923 1 5923764 T G - MIR4689 41895 MicroRNA 4689 NR_039838.1 -1 70 0 substitution upstream GRCh37 5923764 5923764 Chr1(GRCh37):g.5923764T>G -963 -963 NR_039838.1:n.-963A>C p.? p.? 1 rs557447923 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000485 0.000115 0.000000 0.000000 0.000000 0.000000 0.000934 0.000000 0.000000 0.000934 15 1 0 0 0 0 14 0 0 30948 8728 836 302 1622 0 14986 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 1 0 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transversion A C A>C 0.000 -2.377 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.4 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.6402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . 0.0002 . . . . . . ENSG00000131697 NPHP4 NPHP4 . uc001alr.1:c.*2665A>C . . . . 30 0.000461709 64976 29 0.000483446 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs557447923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs557447923 1 5923764 T G - NPHP4 19104 Nephronophthisis 4 NM_015102.4 -1 5006 4281 NP_055917.1 O75161 substitution intron GRCh37 5923764 5923764 Chr1(GRCh37):g.5923764T>G 4140+186 4140+186 NM_015102.4:c.4140+186A>C p.? p.? 29 29 607215 186 5' 80.4452 6.34467 0.798271 6.62036 80.4452 6.34467 0.798271 6.62036 0 rs557447923 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000485 0.000115 0.000000 0.000000 0.000000 0.000000 0.000934 0.000000 0.000000 0.000934 15 1 0 0 0 0 14 0 0 30948 8728 836 302 1622 0 14986 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 1 0 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transversion A C A>C 0.000 -2.377 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.4 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.6402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . 0.0002 . . . . . . ENSG00000131697 NPHP4 NPHP4 . uc001alr.1:c.*2665A>C . . . . 30 0.000461709 64976 29 0.000483446 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs557447923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139022622 1 5926503 G A - NPHP4 19104 Nephronophthisis 4 NM_015102.4 -1 5006 4281 NP_055917.1 O75161 substitution missense exon GRCh37 5926503 5926503 Chr1(GRCh37):g.5926503G>A 3574 3574 NM_015102.4:c.3574C>T p.Arg1192Trp p.Arg1192Trp 26 607215 16 3' 80.5072 2.89289 0.46935 4.18867 80.5072 2.89289 0.331225 3.74493 -0.0980967 rs139022622 yes no Frequency/1000G 2 G uncertain_significance,likely_benign 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.001811 0.000456 0.001593 0.000103 0.000000 0.000000 0.002853 0.002273 0.002471 0.002853 462 10 52 1 0 0 329 55 15 255098 21914 32638 9696 17518 27740 115326 24196 6070 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000083 0.000000 2 0 0 0 0 0 1 1 0 458 10 52 1 0 0 327 53 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8217 3862 12079 19 4 23 0.00230695 0.00103466 0.00190051 0.00230695 0.00103466 0.00190051 34 RCV000168448.1|RCV000271940.1 germline|germline clinical testing|clinical testing VUS|Likely benign 0|1 Nephronophthisis|not specified CM051582 Nephronophthisis 4 15776426 DM transition C T C>T 0.047 1.739 R Arg CGG 0.207 W Trp TGG 1.000 1192 12 8 Horse -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 241.31 94.79 Deleterious 0 III.36 255 PASS . 0.0009 . . 0.0026 . 0.001 . . 0.005 . ENSG00000131697:ENST00000378156:exon26:c.C3574T:p.R1192W . . . . 0.42028984 . . germline 29 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.736 . Uncertain//\@significance//\%//\@Likely//\@benign Uncertain_significance|Likely_benign RCV000168448.1|RCV000271940.1 Nephronophthisis|not_specified MedGen:SNOMED_CT|MedGen C0687120:204958008|CN169374 1 0.896 . . 69.0 . . . 0.001 0.0019 0.0023 0.001 0.0019 0.0023 . 0.1530 -0.012 0.153 c . . . . . 1.823e-03 . . . 0.0006 0.0022 0.0019 0 0.0072 0.0035 0.0045 0 0.0007 0.0026 0.0019 0 0.0059 0.0040 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.740 . . exonic exonic exonic . . 0.348 0.0010 . . . 0.39 0.58 182 ENSG00000131697 NPHP4 NPHP4 . . . 0.264 0.188 . 83 0.00127739 64976 78 0.0013003 59986 Uncertain_significance . 0 . 0.358 . . . . D 0.881 0.227 . . 37 . 0.812 . . 0.728 . . . 0.674 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.718 . . 0 0 0 0 1 0 . 0.899 . . 0.749 . . . . . . 0 0.721 . . . . . 0.504 . 0.800 . HET 0 rs139022622 . . . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dNephronophthisis\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000168448.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0687120:204958008 . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 XI.93 0.00126 ENST00000378156 5.XI 3.XII . 0.000000 . . . . 0.001901 . 0.432 . . 3.XII 0.0004 0.0018 0.0016 0.0001 0 0.0022 0.0029 0.0027 0 0.0006 0.0017 0 0 0 0.0026 0.0026 0.0010 . . 0.567 . 0.548 0.548000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.171 0.112 . 0.599 . 0.158 0.548 -0.020 0.0026 . . rs139022622 rs139022622 1 1538 10 1/0 0,255,255 +rs368327650 1 5964814 G A - NPHP4 19104 Nephronophthisis 4 NM_015102.4 -1 5006 4281 NP_055917.1 O75161 substitution missense exon GRCh37 5964814 5964814 Chr1(GRCh37):g.5964814G>A 2006 2006 NM_015102.4:c.2006C>T p.Thr669Ile p.Thr669Ile 16 607215 51 3' 78.6996 4.22572 0.43352 0 78.6996 4.22572 0.43352 0 0 Cryptic Acceptor Weakly Activated 5964806 9.02669 0.867487 86.3247 IX.08 0.897561 88.1345 rs368327650 yes no Frequency 1 G 0.000000 0 0.000032 0.000000 0.000030 0.000000 0.000000 0.000000 0.000054 0.000000 0.000182 0.000054 8 0 1 0 0 0 6 0 1 246252 15300 33576 9850 17248 30782 111716 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 1 0 0 0 6 0 1 0 0 0 0 0 0 0 0 0 PASS 61 Exomes 8443 4198 12641 1 0 1 0.000118427 0 7.91014e-05 0.000118427 0 7.91014e-05 126 transition C T C>T 1.000 4.887 T Thr ACC 0.361 I Ile ATC 0.481 669 12 10 C. elegans -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0 III.36 255 PASS . . . . . . . . . . . . . . . . 0.452 . . @ 113 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.906 . @ . . . . . 1 0.986 . . 250.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.8540 0.813 0.854 c . . . . . 3.188e-05 . . . 0 3.329e-05 8.648e-05 0 0 2.373e-05 0.0014 0 0 2.841e-05 8.917e-05 0 0 3.681e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.947 . . exonic exonic exonic . . 0.688 @ . . . 0.49 0.38 182 ENSG00000131697 NPHP4 NPHP4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.952 0.503 . . 37 . 0.969 . . 0.977 . . . 0.809 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.795 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.682 . . . . . 0.876 . 0.897 . HET 0 rs368327650 . . . . . . . . . . . . 17.5221 . . 5.I 5.I . 0.000000 O75161 . . . 0.000079 . 0.807 . . 5.I 0 3.249e-05 2.978e-05 0 0 0 5.371e-05 0.0002 0 . . . . . . . . . . 0.372 . 2.364 2.364000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.898 . 0.490 2.364 0.917 0.0001 . . rs368327650 . 1 1538 10 1/0 0,217,241 +rs775528020 1 6269120 T G - RNF207 32947 Ring finger protein 207 NM_207396.2 1 3971 1905 NP_997279.2 Q6ZRF8 substitution intron GRCh37 6269120 6269120 Chr1(GRCh37):g.6269120T>G 469+35 469+35 NM_207396.2:c.469+35T>G p.? p.? 4 4 616923 35 5' 71.5327 7.394 0.815251 14.0662 71.5327 7.394 0.815251 14.6661 0 rs775528020 yes no Frequency 1 T 0.000000 0 transversion T G T>G 0.000 -0.521 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.6343 . . . . . . . . 3.909e-04 . . . 0 0.0005 0 0 0 0.0003 0 0.0007 0 0.0014 0 0.125 0 0 0 0.0007 . . . . . . intronic intronic intronic . . . @ . . . . . . . RNF207 RNF207 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs775528020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 1 6530965 C CG - PLEKHG5 29105 Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 NM_001265592.1 -1 4794 3258 NP_001252521.1 duplication intron GRCh37 6530965 6530966 Chr1(GRCh37):g.6530966dup 1630-22 1630-22 NM_001265592.1:c.1630-22dup p.? p.? 15 14 611101 -21 3' 72.9281 7.88637 0.600746 9.02151 72.9281 7.88637 0.600746 10.652 0 rs111312565 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999978 1.000000 1.000000 1.000000 0.999919 1.000000 0.999957 1.000000 1.000000 1.000000 178576 15926 25322 8390 12355 23498 70261 18048 4776 178580 15926 25322 8390 12356 23498 70264 18048 4776 0.999955 1.000000 1.000000 1.000000 0.999838 1.000000 0.999915 1.000000 1.000000 89286 7963 12661 4195 6177 11749 35129 9024 2388 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 55 20 75 7491 3822 11313 0.00728863 0.00520562 0.00658588 0.992711 0.994794 0.993414 6 C 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.9661017 . . . 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 59 . . . 1. 1. 1. 0.99 0.99 0.99 . . . . . . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000171680 PLEKHG5 PLEKHG5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs111312565 0.098 0.101 . . . . . . . . . . . . . . . . . . . . . 0.998506 . . . . . 1 1.0000 1 1 0.9999 1 1.0000 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs111312565 rs111312565 1 1538 255 1.I 0,0,255 +rs41278012 1 6532786 A G - PLEKHG5 29105 Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 NM_001265592.1 -1 4794 3258 NP_001252521.1 substitution intron GRCh37 6532786 6532786 Chr1(GRCh37):g.6532786A>G 1222-104 1222-104 NM_001265592.1:c.1222-104T>C p.? p.? 11 10 611101 -104 3' 75.9159 9.54297 0.969014 X.37 75.9159 9.54297 0.969014 X.37 0 rs41278012 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.002000 0.002900 0.001972 0.000458 0.005967 0.000000 0.000000 0.000000 0.003071 0.001145 0.002037 0.005967 61 4 5 0 0 0 46 4 2 30940 8726 838 302 1622 0 14978 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 4 5 0 0 0 46 4 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition T C T>C 0.008 0.448 255 PASS . 0.0005 0.0028 . . . 0.0008 0.0029 . 0.002 . . . . . . 0.49315068 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 0.7638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.5 0.35 182 ENSG00000171680 PLEKHG5 PLEKHG5 . . . . . . 166 0.00255479 64976 162 0.00270063 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41278012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0020 0.0060 0 0 0.0011 0.0031 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 rs41278012 rs41278012 rs41278012 rs41278012 1 1538 10 1/0 0,255,255 +rs576441412 1 6695557 C G - DNAJC11 25570 DnaJ (Hsp40) homolog, subfamily C, member 11 NM_018198.3 -1 3293 1680 NP_060668.2 Q9NVH1 substitution 3'UTR GRCh37 6695557 6695557 Chr1(GRCh37):g.6695557C>G *178 *178 NM_018198.3:c.*178G>C p.? p.? 16 614827 204 3' 91.6038 12.0962 0.994095 10.0486 91.6038 12.0962 0.994095 10.0486 0 Cryptic Acceptor Strongly Activated 6695549 0.459232 0.00114 60.8918 1.82914 0.005939 64.2471 rs576441412 yes no Frequency/1000G 2 C 0.000200 G 1 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000710 0.000000 0.001193 0.000000 0.000000 0.000000 0.001133 0.000859 0.001018 0.001193 22 0 1 0 0 0 17 3 1 30980 8732 838 302 1622 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 1 0 0 0 17 3 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion G C G>C 0.898 2.788 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.84615386 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 13.0 . . . . . . . . . . I.00 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . . . . . . . . . NM_018198:c.*178G>C\x3bNM_138350:c.*1409C>G . . . 44 0.000677173 64976 43 0.000716834 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs576441412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.74 . . . . . . . . . 0 0.0007 0.0012 0 0 0.0009 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs576441412 1 6695557 C G - THAP3 20855 THAP domain containing, apoptosis associated protein 3 NM_001195753.1 1 1384 720 NP_001182682.1 Q8WTV1 substitution downstream GRCh37 6695557 6695557 Chr1(GRCh37):g.6695557C>G *2420 *2420 NM_001195753.1:c.*2420C>G p.? p.? 6 612532 2702 3' 83.2539 11.1352 0.992807 10.1641 83.2539 11.1352 0.992807 10.1641 0 rs576441412 yes no Frequency/1000G 2 C 0.000200 G 1 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000710 0.000000 0.001193 0.000000 0.000000 0.000000 0.001133 0.000859 0.001018 0.001193 22 0 1 0 0 0 17 3 1 30980 8732 838 302 1622 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 1 0 0 0 17 3 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion C G C>G 0.898 2.788 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.84615386 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 13.0 . . . . . . . . . . I.00 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . . . . . . . . . NM_018198:c.*178G>C\x3bNM_138350:c.*1409C>G . . . 44 0.000677173 64976 43 0.000716834 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs576441412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.74 . . . . . . . . . 0 0.0007 0.0012 0 0 0.0009 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201124379 1 10478897 A G - PGD 8891 Phosphogluconate dehydrogenase NM_002631.3 1 2340 1452 NP_002622.2 P52209 substitution missense exon GRCh37 10478897 10478897 Chr1(GRCh37):g.10478897A>G 1124 1124 NM_002631.3:c.1124A>G p.Lys375Arg p.Lys375Arg 11 172200 15 3' 83.7552 7.76637 0.570478 3.73895 83.7552 7.76637 0.665569 3.60694 0.0555622 6-phosphogluconate dehydrogenase, C-terminal 6-phosphogluconate dehydrogenase, decarboxylating rs201124379 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000301 0.000083 0.000583 0.000000 0.000000 0.000000 0.000444 0.000039 0.000622 0.000583 83 2 20 0 0 0 56 1 4 276028 23954 34328 10114 18810 30528 126176 25688 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 2 20 0 0 0 56 1 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4405 13001 4 1 5 0.000465116 0.000226963 0.000384438 0.000465116 0.000226963 0.000384438 107 transition A G A>G 1.000 4.079 K Lys AAG 0.575 R Arg AGG 0.207 375 12 8 Zebrafish 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 240.29 13.90 Tolerated 0.08 III.83 255 PASS . 0.0005 0.0028 . . . 0.0004 0.0014 . 0.001 . . . . . . 0.5151515 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.424 . @ . . . . . 1 0.815 . . 66.0 . . . 0.0002 0.0004 0.0005 0.0002 0.0004 0.0005 . 0.1875 0.340 0.188 c . . . . . 2.447e-04 . . . 0.0002 0.0002 0.0002 0 0 0.0004 0 0 0.0001 0.0003 0.0002 0 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.445 . . exonic exonic exonic . . 0.682 0.0004 . . . 0.49 0.16 182 ENSG00000142657 PGD PGD . . . 1.000 0.747 . 13 0.000200074 64976 11 0.000183376 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.255 0.010 . . 37 . 0.369 . . 0.337 . . . 0.301 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.309 . . 0 0 0 0 0 0 . 0.367 . . 0.397 . . . . . . 0 0.381 . . . . . 0.727 . 0.622 . HET 0.08 rs201124379 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 15.2022 2.68E-4 . 5.VIII 5.VIII . 0.030000 . . . . 0.000384 . 0.858 . . 5.VIII 6.539e-05 0.0003 0.0006 0 0 4.486e-05 0.0004 0.0007 0 0.0001 0.0002 0 0 0 0 0.0004 0 . . 0.730 . 2.049 2.049000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.904 . 0.908 2.049 1.058 0.0028 . . rs201124379 rs201124379 1 1538 10 1/0 0,255,255 +rs9430193 1 11593793 T C - DISP3 29251 Dispatched RND transporter family member 3 NM_020780.1 1 5214 4179 NP_065831.1 Q9P2K9 substitution intron GRCh37 11593793 11593793 Chr1(GRCh37):g.11593793T>C 3376-645 3376-645 NM_020780.1:c.3376-645T>C p.? p.? 18 17 611251 -645 3' 82.5923 X.62 0.97924 8.61176 82.5923 X.62 0.97924 8.61176 0 rs9430193 yes no Frequency/1000G 2 C 0.000000 0 0.355232 0.369100 0.331300 0.349200 0.359800 0.364600 0.000097 0.000115 0.000000 0.000000 0.000000 0.000000 0.000134 0.000000 0.000000 0.000134 3 1 0 0 0 0 2 0 0 30832 8696 836 300 1620 0 14926 3472 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 15 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 46 Genomes transition T C T>C 0.000 -1.974 239 PASS . . . . . 0.37 0.36 0.36 0.35 0.36 0.33 . . . . . 0.27450982 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||PTCHD2|mRNA|CODING|NM_020780|) . . . . . . . -0.8259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . 0.4109 . . . 0.53 0.48 182 ENSG00000204624 PTCHD2 PTCHD2 ENST00000304391:c.-58T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9430193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 9.73e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs9430193 rs9430193 rs9430193 rs9430193 1 1538 10 1/0 0,255,255 +rs200078448 1 11718743 G C - FBXO44 24847 F-box protein 44 NM_001014765.1 1 3320 768 NP_001014765.1 Q9H4M3 substitution intron GRCh37 11718743 11718743 Chr1(GRCh37):g.11718743G>C 489-50 489-50 NM_001014765.1:c.489-50G>C p.? p.? 6 5 609111 -50 3' 86.9898 13.9664 0.987095 13.9053 86.9898 13.9664 0.987095 14.421 0 transversion G C G>C 0.071 -0.279 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . 0.8200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.42 0.23 182 ENSG00000132879 FBXO44 FBXO44 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 11985396 A G - KIAA2013 28513 KIAA2013 NM_138346.2 -1 2823 1905 NP_612355.1 Q8IYS2 substitution missense exon GRCh37 11985396 11985396 Chr1(GRCh37):g.11985396A>G 899 899 NM_138346.2:c.899T>C p.Leu300Pro p.Leu300Pro 1 -135 5' 95.6376 X.36 0.99713 XII.71 95.6376 X.36 0.99713 XII.71 0 Protein of unknown function DUF2152 COSM6359877 Thyroid 0.005355 747 transition T C T>C 1.000 1.093 L Leu CTC 0.197 P Pro CCC 0.328 300 11 6 Dog -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Deleterious 0.01 III.42 unknown 0.0 0.0 205 PASS . . . . . . . . . . . . . KIAA2013:NM_138346:exon1:c.T899C:p.L300P . . 0.17105263 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.343 . @ . . . . . 1 0.317 . . 152.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cCc|L300P|KIAA2013|mRNA|CODING|NM_138346|NM_138346.ex.1) . . . . . . . 0.3304 0.310 0.330 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.441 @ . . . . . . ENSG00000116685 KIAA2013 KIAA2013 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.201 . . . . T 0.248 0.009 . . 37 . 0.529 . . 0.492 . . . 0.281 0.548 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.285 . . 0 0 0 0 0 0 . 0.689 . . 0.622 . . . . . . 0 0.142 . . . . . 0.162 . 0.686 . HET 0.19 . . . . . . . . . . . . . V.53 . . 3.IX 3.IX . 0.320000 . . . . . . 0.403 . . 3.IX . . . . . . . . . . . . . . . . . . . 0.994 . 1.767 1.767000 . . 0.320000 . . 1.0E-205 1.000 0.715 . 0.888 0.975 . 0.543 . 0.903 1.767 1.062 . . . . . 1 1538 10 1/0 0,214,255 +rs1063797 (chr1:12855845 G/C) 1 12855845 G C Transcript NM_023013.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF1 +. 1 12998566 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998566 12998566 Chr1(GRCh37):g.12998566C>T 1370 1370 NM_001010889.2:c.1370G>A p.Cys457Tyr p.Cys457Tyr 4 501 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 0.002596 0.002300 0.000000 0.000000 0.006000 0.005800 0.002584 0.009266 0.006798 0.007576 0.000000 0.000234 0.001532 0.000000 0.002845 0.009266 117 26 47 8 0 1 31 0 4 45284 2806 6914 1056 6408 4282 20232 2180 1406 0.000883 0.004989 0.002314 0.003788 0.000000 0.000000 0.000297 0.000000 0.000000 20 7 8 2 0 0 3 0 0 77 12 31 4 0 1 25 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.360 C Cys TGC 0.552 Y Tyr TAC 0.562 457 -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 196 PASS . . . . . 0.0023 0.0026 0.0058 . 0.006 . . . PRAMEF6:NM_001010889:exon4:c.G1370A:p.C457Y . . 0.15044248 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.014 . . 113.0 . . . . . . . . . . -1.8434 -1.874 -1.843 c . . . . . 5.079e-04 . . . 0 0 0 0 . 0 0 . . 0 0 0 . 0 . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.142 @ . . . 0.34 0.24 182 ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.041 . . . . T 0.011 0.001 . . 37 . 0.205 . . 0.120 . . . 0.018 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.188 . . . . . 0.064 . 0.138 . HET 0.27 rs572191341 . . . . . . . . . . . . III.76 0.014706 . 1.II 0.165 . 0.320000 . . . . . . 0.005 . . . 0.0069 0.0026 0.0071 0.0062 0 0 0.0016 0.0027 0.0002 0.0171 0.0026 0 0.0222 0 0 0.0015 0.0035 . . 0.133 . -0.362 -0.362000 . . 0.320000 . . 1.0E-196 0.000 0.063 . 0.016 0.000 . 0.034 . 0.001 -0.362 -1.495 . . . rs77498625 rs77498625 1 1538 10 1/0 0,225,255 +rs61779360 1 12998610 C A - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 12998610 12998610 Chr1(GRCh37):g.12998610C>A 1326 1326 NM_001010889.2:c.1326G>T p.Val442= p.Val442Val 4 457 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs61779360 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.001000 0.005000 0.002900 0.000997 0.001069 0.001352 0.000000 0.000468 0.000701 0.000753 0.004615 0.001460 0.004615 43 3 9 0 3 3 14 9 2 43124 2806 6656 1060 6412 4278 18592 1950 1370 0.000278 0.000713 0.000601 0.000000 0.000312 0.000468 0.000108 0.000000 0.000000 6 1 2 0 1 1 1 0 0 31 1 5 0 1 1 12 9 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.008 0.851 V Val GTG 0.468 V Val GTT 0.178 442 223 PASS . . . . . . 0.0016 0.0029 0.001 0.005 . . . PRAMEF6:NM_001010889:exon4:c.G1326T:p.V442V . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . . . . . . . . . -0.1696 . . . . . . . . 5.739e-04 . . . 0 0 0 0 . 0 0 . . 0 0 0 . 0 . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . . . . ENSG00000232423 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61779360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0007 0.0014 0 0.0005 0.0019 0.0005 0.0018 0.0007 0.0026 0.0027 0 0 0 0.0056 0.0021 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . rs61779360 rs61779360 rs61779360 rs61779360 1 1538 10 1/0 0,223,255 +rs199581295 1 12998688 G C - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 12998688 12998688 Chr1(GRCh37):g.12998688G>C 1248 1248 NM_001010889.2:c.1248C>G p.Pro416= p.Pro416Pro 4 379 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs199581295 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -3.104 P Pro CCC 0.328 P Pro CCG 0.115 416 176 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1248G:p.P416P . . 0.104575165 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -1.0353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.29 182 ENSG00000232423 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199581295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs7417152 rs199581295 1 1538 10 1/0 0,208,255 +rs6604961 1 12998689 G A - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998689 12998689 Chr1(GRCh37):g.12998689G>A 1247 1247 NM_001010889.2:c.1247C>T p.Pro416Leu p.Pro416Leu 4 378 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs6604961 no no 0 G 0.000000 0 0.000133 0.000000 0.000000 0.000000 0.000000 0.000000 0.000259 0.000000 0.000862 0.000259 5 0 0 0 0 0 4 0 1 37652 2448 6252 996 6106 4212 15450 1028 1160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6413693 Thyroid 0.001339 747 transition C T C>T 0.008 1.013 P Pro CCC 0.328 L Leu CTC 0.197 416 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 227 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1247T:p.P416L . . 0.23376623 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.443 . @ . . . . . 1 0.447 . . 154.0 . . . . . . . . . . -0.0419 -0.390 -0.042 c . . . . . 5.851e-04 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.114 . . exonic exonic exonic . . 0.206 @ . . . . . . ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.013 0.001 . . 37 . 0.335 . . 0.039 . . . 0.881 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.983 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.555 . . . . . 0.188 . 0.429 . HET 0.04 rs6604961 . . . . . . . . . . . . 6.0311 . . I.29 I.29 . 0.020000 . . . . . . 0.130 . . . 0 0.0001 0 0 0 0 0.0002 0.0009 0 0 0.0006 0 0 0 0 0.0013 0 . . 0.133 . 1.028 1.028000 . . 0.020000 . . 1.0000000000000001E-227 0.819 0.297 . 0.104 0.005 . 0.485 . 0.294 1.028 0.830 . rs6604961 rs6604961 rs6604961 rs6604961 1 1538 10 1/0 0,220,255 +. 1 12998702 G C - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998702 12998702 Chr1(GRCh37):g.12998702G>C 1234 1234 NM_001010889.2:c.1234C>G p.Leu412Val p.Leu412Val 4 365 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 New Donor Site 12998703 1.64702 0.115903 70.2577 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36650 2392 6464 990 6104 4302 14754 544 1100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 72 Exomes COSM6373402 Thyroid 0.002677 747 transversion C G C>G 0.000 -1.167 L Leu CTG 0.404 V Val GTG 0.468 412 1 1 1 0 0 4.IX 5.IX 111 84 32 203 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1234G:p.L412V . . 0.16564417 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.148 . . 163.0 . . . . . . . . . . -1.3870 -1.582 -1.387 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.114 . . exonic exonic exonic . . 0.059 @ . . . . . . ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.082 . . . . T 0.005 0.001 . . 37 . 0.093 . . 0.220 . . . 0.520 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.437 . . 0 0 0 0 0 0 . 0.324 . . 0.293 . . . . . . 0 0.408 . . . . . 0.081 . 0.114 . HET 0.07 . . . . . . . . . . . . . III.13 . . I.29 -2.57 . 0.060000 . . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.331 -1.331000 . . 0.060000 . . 1.0E-203 0.000 0.063 . 0.095 0.010 . 0.027 . 0.090 -1.331 -0.752 . rs11578329 rs11578329 rs11578329 rs11578329 1 1538 10 1/0 0,211,255 +. 1 12998708 C G - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998708 12998708 Chr1(GRCh37):g.12998708C>G 1228 1228 NM_001010889.2:c.1228G>C p.Val410Leu p.Val410Leu 4 359 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 0.006722 0.003347 0.003008 0.002024 0.001809 0.001180 0.011927 0.017199 0.008897 0.017199 249 8 19 2 11 5 180 14 10 37044 2390 6316 988 6082 4238 15092 814 1124 0.002376 0.002510 0.000317 0.002024 0.000987 0.000000 0.004506 0.000000 0.003559 44 3 1 1 3 0 34 0 2 161 2 17 0 5 5 112 14 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -5.525 V Val GTG 0.468 L Leu CTG 0.404 410 1 1 1 0 0 5.IX 4.IX 84 111 32 218 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.G1228C:p.V410L . . 0.20833333 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.001 . . 168.0 . . . . . . . . . . -2.9056 -2.942 -2.906 c . . . . . 7.645e-04 . . . 0 0 . . . 0 . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.091 . . exonic exonic exonic . . 0.059 @ . . . 0.38 0.29 182 ENSG00000232423 . . . . . 1.000 0.439 . . . . . . . Uncertain_significance . 0 . 0.047 . . . . T 0.001 0.000 . . 37 . 0.028 . . 0.336 . . . 0.007 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.001 . 0.080 . HET 0.71 rs201734466 . . . . . . . . . . . . 0.2072 . . I.29 -2.57 . 1.000000 . . . . . . 0.002 . . . 0.0034 0.0066 0.0029 0.0020 0.0018 0.0149 0.0122 0.0093 0.0012 0 0.0095 0.0357 0 0 0.0216 0.0040 0 . . 0.133 . -5.716 -5.716000 . . 1.000000 . . 1.0E-218 0.000 0.063 . 0.016 0.001 . 0.081 . 0.008 -5.716 -1.209 . . . rs74702454 rs201734466 1 1538 10 1/0 0,214,255 +rs2982185 1 12998792 T C - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998792 12998792 Chr1(GRCh37):g.12998792T>C 1144 1144 NM_001010889.2:c.1144A>G p.Thr382Ala p.Thr382Ala 4 275 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs2982185 yes no Frequency 1 T 0.000000 0 0.000057 0.000432 0.000162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000432 2 1 1 0 0 0 0 0 0 35314 2316 6188 922 5910 4116 14292 516 1054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5425021 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -0.360 T Thr ACC 0.361 A Ala GCC 0.403 382 0 0 0 0.71 0 8.VI 8.I 61 31 58 244 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.A1144G:p.T382A . . 0.2857143 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.029 . . 189.0 . . . . . . . . . . -1.3056 -1.458 -1.306 c . . . . . 4.191e-04 . . . 0 0 . . . 0 . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.095 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.173 . . . . T 0.014 0.001 . . 37 . 0.091 . . 0.229 . . . 0.601 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.564 . . 0 0 0 0 0 0 . 0.257 . . 0.268 . . . . . . 0 0.386 . . . . . 0.114 . 0.084 . HET 0.11 rs2982185 . . . . . . . . . . . . IV.99 . . I.53 -1.47 . 0.070000 . . . . . . 0.015 . . . 0.0004 5.694e-05 0.0002 0 0 0 0 0 0 0 0 0 . 0 0 0 0 . . 0.133 . -0.392 -0.392000 . . 0.070000 . . 1.0000000000000001E-244 0.000 0.063 . 0.016 0.001 . 0.101 . 0.032 -0.392 -0.063 . rs28581453 rs28581453 rs28581453 rs28581453 1 1538 10 1/0 0,215,255 +rs2994102 1 12998793 G A - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 12998793 12998793 Chr1(GRCh37):g.12998793G>A 1143 1143 NM_001010889.2:c.1143C>T p.Asn381= p.Asn381Asn 4 274 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 Cryptic Acceptor Strongly Activated 12998784 1.54238 0.07703 74.4219 2.40828 0.112645 77.1338 rs2994102 yes no Frequency 1 G 0.000000 0 0.000028 0.000426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000426 1 1 0 0 0 0 0 0 0 35874 2350 6380 948 5996 4178 14410 528 1084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5425022 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -2.377 N Asn AAC 0.536 N Asn AAT 0.464 381 235 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1143T:p.N381N . . 0.25668448 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.7625 . . . . . . . . 4.167e-04 . . . 0 0 . . . 0 . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2994102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 2.802e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs28482402 rs28482402 rs28482402 rs28482402 1 1538 10 1/0 0,213,255 +rs11578354 1 12998873 G A - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 12998873 12998873 Chr1(GRCh37):g.12998873G>A 1063 1063 NM_001010889.2:c.1063C>T p.Leu355= p.Leu355Leu 4 194 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 Cryptic Acceptor Strongly Activated 12998863 2.72265 0.029682 65.3736 3.12998 0.052052 68.6563 rs11578354 yes no Frequency 1 G 0.000000 0 0.000111 0.000446 0.000147 0.000000 0.000000 0.000000 0.000143 0.000000 0.000000 0.000446 4 1 1 0 0 0 2 0 0 35934 2242 6822 920 6010 4238 14000 622 1080 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5427821 Haematopoietic and lymphoid tissue 0.000567 3530 transition C T C>T 0.008 0.205 L Leu CTG 0.404 L Leu TTG 0.127 355 213 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1063T:p.L355L . . 0.19277108 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . -0.1239 . . . . . . . . 2.464e-04 . . . 0 0.0104 0 0 0 0.0128 . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11578354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0.0001 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs11578354 rs11578354 rs11578354 rs113366699 1 1538 10 1/0 0,213,255 +rs6604962 1 12998905 A G - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998905 12998905 Chr1(GRCh37):g.12998905A>G 1031 1031 NM_001010889.2:c.1031T>C p.Leu344Pro p.Leu344Pro 4 162 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 Cryptic Acceptor Strongly Activated 12998899 5.54662 0.071191 70.5097 7.26966 0.087356 68.4064 rs6604962 no no 0 A 0.000000 0 0.004904 0.000000 0.000154 0.001171 0.028467 0.000247 0.000739 0.000000 0.000000 0.028467 169 0 1 1 156 1 10 0 0 34462 2172 6494 854 5480 4044 13530 852 1036 0.000174 0.000000 0.000000 0.000000 0.000730 0.000000 0.000148 0.000000 0.000000 3 0 0 0 2 0 1 0 0 163 0 1 1 152 1 8 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6294018|COSM6294018 Thyroid|Liver 0.001339|0.000422 747|2371 transition T C T>C 0.000 1.013 L Leu CTC 0.197 P Pro CCC 0.328 344 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 174 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.T1031C:p.L344P . . 0.1017964 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.445 . @ . . . . . 1 0.616 . . 167.0 . . . . . . . . . . -0.0250 -0.387 -0.025 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.039 . . exonic exonic exonic . . 0.221 @ . . . . . . ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.002 0.001 . . 37 . 0.239 . . 0.037 . . . 0.934 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.891 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.614 . . . . . 0.146 . 0.667 . LowAF 0.01 rs6604962 . . . . . . . . . . . . 5.217 . . I.53 I.53 . 0.010000 . . . . . . 0.094 . . . 0 0.0050 0.0002 0.0012 0.0285 0 0.0008 0 0.0002 0 0 0 0 0 0 0 0 . . 0.133 . 0.958 0.958000 . . 0.010000 . . 1.0E-174 0.243 0.246 . 0.090 0.043 . 0.487 . 0.310 0.958 0.960 . rs6604962 rs6604962 rs6604962 rs6604962 1 1538 10 1/0 0,204,255 +. 1 13002102 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 13002102 13002102 Chr1(GRCh37):g.13002102C>T 247 247 NM_001010889.2:c.247G>A p.Asp83Asn p.Asp83Asn 2 -41 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.56409 0 transition G A G>A 0.047 1.174 D Asp GAT 0.461 N Asn AAT 0.464 83 2 1 2 I.38 I.33 13 11.VI 54 56 23 182 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.G247A:p.D83N PRAMEF6:NM_001010889:exon2:c.G247A:p.D83N . . 0.118644066 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.476 . @ . . . . . 1 0.776 . . 59.0 . . . . . . . . . . -0.2746 -0.563 -0.275 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.059 . . exonic exonic exonic . . 0.222 @ . . . . . . ENSG00000232423 PRAMEF6 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.125 . . . . T 0.010 0.001 . . 37 . 0.154 . . 0.085 . . . 0.798 0.189 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.722 . . 0 0 0 0 0 0 . 0.585 . . 0.528 . . . . . . 0 0.682 . . . . . 0.216 . 0.241 . LowAF 0 . . . . . . . . . . . . . VI.69 . . I.54 I.54 . 0.000000 Q5VXH4 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.164 1.164000 . . 0.000000 . . 1.0E-182 0.000 0.063 . 0.043 0.085 . 0.163 . 0.287 1.164 0.493 . . . . . 1 1538 10 1/0 0,250,255 +. 1 13002120 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 13002120 13002120 Chr1(GRCh37):g.13002120C>T 229 229 NM_001010889.2:c.229G>A p.Ala77Thr p.Ala77Thr 2 -59 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 8.22629 0 0.001548 0.000000 0.002344 0.000000 0.000000 0.001193 0.000000 0.000000 0.000000 0.002344 4 0 3 0 0 1 0 0 0 2584 4 1280 0 180 838 132 6 144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 3 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.924 A Ala GCC 0.403 T Thr ACC 0.361 77 0 0 0 0 0.71 8.I 8.VI 31 61 58 202 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.G229A:p.A77T PRAMEF6:NM_001010889:exon2:c.G229A:p.A77T . . 0.16666667 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.000 . . 66.0 . . . . . . . . . . -2.1037 -2.074 -2.104 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.050 @ . . . . . . ENSG00000232423 PRAMEF6 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.046 . . . . T 0.002 0.000 . . 37 . 0.020 . . 0.418 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.199 . 0.199 . HET 1 . . . . . . . . . . . . . VI.23 . . I.54 -3.07 . 1.000000 Q5VXH4 . . . . . 0.003 . . . 0 0.0015 0.0023 . 0 0 0 0 0.0012 . . . . . . . . . . 0.133 . -0.968 -0.968000 . . 1.000000 . . 1.0E-202 0.000 0.063 . 0.043 0.001 . 0.023 . 0.114 -0.968 -1.402 . . . . . 1 1538 10 1/0 0,249,255 +. 1 13002181 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 13002181 13002181 Chr1(GRCh37):g.13002181C>T 168 168 NM_001010889.2:c.168G>A p.Val56= p.Val56Val 2 -120 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.84359 0 Cryptic Donor Strongly Activated 13002184 0.005056 58.8643 3.49948 0.070451 63.2266 0.004972 0.000000 0.004280 0.000000 0.000000 0.007955 0.006098 0.000000 0.000000 0.007955 14 0 6 0 0 7 1 0 0 2816 6 1402 0 210 880 164 8 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 6 0 0 7 1 0 0 0 0 0 0 0 0 0 0 0 RF 122 Exomes transition G A G>A 0.161 -0.198 V Val GTG 0.468 V Val GTA 0.114 56 224 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.G168A:p.V56V PRAMEF6:NM_001010889:exon2:c.G168A:p.V56V . . 0.2247191 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 0.1881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF6 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0050 0.0043 . 0 0 0.0061 0 0.0080 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,241,255 +. 1 13002280 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 13002280 13002280 Chr1(GRCh37):g.13002280C>T 69 69 NM_001010889.2:c.69G>A p.Leu23= p.Leu23Leu 2 91 3' 74.0275 2.64252 0.042293 3.62516 74.0275 2.64252 0.042293 3.62516 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 602 2 346 0 16 192 10 0 36 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 0.205 L Leu TTG 0.127 L Leu TTA 0.073 23 182 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.G69A:p.L23L PRAMEF6:NM_001010889:exon2:c.G69A:p.L23L . . 0.11764706 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.1813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF6 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . 0 0 0 . 0 . . . . 0 . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs75596119 rs75596119 1 1538 10 1/0 0,244,255 +rs61779373 1 13002300 G C - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 13002300 13002300 Chr1(GRCh37):g.13002300G>C 49 49 NM_001010889.2:c.49C>G p.Leu17Val p.Leu17Val 2 71 3' 74.0275 2.64252 0.042293 3.62516 74.0275 2.64252 0.042293 3.83351 0 rs61779373 no no 0 G 0.000000 0 0.008929 0.000000 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.015152 2 0 2 0 0 0 0 0 0 224 2 132 0 2 74 2 0 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 610 Exomes COSM5425160|COSM5425160 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000567 747|3530 transversion C G C>G 0.000 0.125 L Leu CTG 0.404 V Val GTG 0.468 17 1 1 1 0 0 4.IX 5.IX 111 84 32 255 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.C49G:p.L17V PRAMEF6:NM_001010889:exon2:c.C49G:p.L17V . . 0.33333334 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.260 . @ . . . . . 1 0.625 . . 54.0 . . . . . . . . . . -0.2075 -0.541 -0.208 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.160 @ . . . . . . ENSG00000232423 PRAMEF6 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.340 . . . . T 0.038 0.002 . . 37 . 0.354 . . 0.078 . . . 0.886 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.589 . . 0 0 0 0 0 0 . 0.670 . . 0.754 . . . . . . 0 0.574 . . . . . 0.158 . 0.360 . HET 0 rs61779373 . . . . . . . . . . . . V.07 . . I.54 0.485 . 0.010000 Q5VXH4 . . . . . 0.101 . . . 0 0.0089 0.0152 . 0 . 0 0 0 . . . . . . . . . . 0.133 . 0.168 0.168000 . . 0.010000 . . 1.0E-255 0.156 0.235 . 0.151 0.076 . 0.417 . 0.294 0.168 0.518 . rs61779373 rs61779373 rs61779373 rs61779373 1 1538 10 1/0 0,255,255 +rs2359265 1 13108899 C T - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13108899 13108899 Chr1(GRCh37):g.13108899C>T 1370 1370 ENST00000622421.2:c.1370G>A p.Cys457Tyr p.Cys457Tyr 4 501 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs2359265 yes no Frequency/1000G 2 0.000000 0 0.001198 0.000000 0.000000 0.002000 0.002000 0.002900 0.001392 0.000000 0.001043 0.014946 0.000000 0.000000 0.002030 0.000929 0.000000 0.014946 53 0 6 11 0 0 31 5 0 38080 3662 5750 736 3754 2530 15268 5380 1000 0.000893 0.000000 0.000696 0.010870 0.000000 0.000000 0.001179 0.000743 0.000000 17 0 2 4 0 0 9 2 0 19 0 2 3 0 0 13 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.974 C Cys TGC 0.552 Y Tyr TAC 0.562 457 12 1 -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 227.18 0.00 Tolerated 1 II.65 247 PASS . . . . . . 0.0012 0.0029 0.002 0.002 . . PRAMEF5:uc001aus.1:exon4:c.G1370A:p.C457Y PRAMEF5:NM_001013407:exon4:c.G1370A:p.C457Y . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 16.0 . . . . . . . . . . -1.8310 . . . . . . . . 2.574e-03 . . . 0 0.0021 0 0 0 0.0033 0 0 0 0.0012 0 0 0 0.0056 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic\x3bsplicing . . . @ . . . 0.37 0.34 182 ENSG00000232423 PRAMEF5 . . . NM_001310134:exon3:c.1375+1G>A\x3bNM_001306072:exon3:c.1375+1G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET 0.25 rs200601438 . . . . . . . . . . . . III.48 . . I.21 -2.41 . 0.280000 A6NMV5 . . . . . . . . . 0 0.0012 0.0011 0.0160 0 0.0006 0.0015 0 0 0 0.0031 0 0 0 0.0029 0.0051 0 . . . . -2.150 -2.150000 . . 0.280000 . . 1.0E-247 . . . . . . . . . -2.150 . . . . rs77498625 rs200601438 1 1538 10 1/0 0,255,255 +rs3895156 1 13109206 G A - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13109206 13109206 Chr1(GRCh37):g.13109206G>A 1063 1063 ENST00000622421.2:c.1063C>T p.Leu355= p.Leu355Leu 4 194 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 Cryptic Acceptor Strongly Activated 13109196 2.72265 0.029682 65.3736 3.12998 0.052052 68.6563 rs3895156 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16076 1496 3042 340 1850 1658 6580 606 504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.142 0.932 L Leu CTG 0.404 L Leu TTG 0.127 355 255 PASS . . . . . . . . . . . . PRAMEF5:uc001aus.1:exon4:c.C1063T:p.L355L . . . 0.39285713 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . 0.0934 -0.153 0.093 n . . . . . 6.124e-04 . . . . 0 0 0 . 0 0 0 . 0 0 0 . 0 . 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.201 @ . . . . . . ENSG00000232423 PRAMEF5 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.175 . . . HET . rs778888053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.133 . . . . . . . . 1.0E-255 0.041 0.208 . 0.043 . . 0.246 . 0.039 . . . rs11578354 rs11578354 rs11578354 rs113366699 1 1538 10 1/0 0,255,255 +. 1 13111295 G A - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13111295 13111295 Chr1(GRCh37):g.13111295G>A 720 720 ENST00000622421.2:c.720C>T p.Ser240= p.Ser240Ser 3 -150 5' 90.6189 10.0684 0.96451 5.11412 90.6189 10.0684 0.96451 5.11412 0 transition C T C>T 0.000 -0.360 S Ser TCC 0.220 S Ser TCT 0.185 240 178 PASS . . . . . . . . . . . . . . . . 0.10810811 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 185.0 . . . . . . . . . . -0.3291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs2023352 rs2023352 rs2023352 rs2023352 1 1538 10 1/0 0,200,255 +. 1 13111337 T C - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13111337 13111337 Chr1(GRCh37):g.13111337T>C 678 678 ENST00000622421.2:c.678A>G p.Pro226= p.Pro226Pro 3 -192 5' 90.6189 10.0684 0.96451 5.11412 90.6189 10.0684 0.96451 5.11412 0 transition A G A>G 0.004 -0.844 P Pro CCA 0.274 P Pro CCG 0.115 226 209 PASS . . . . . . . . . . . . . . . . 0.18134715 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 193.0 . . . . . . . . . . -0.3208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +. 1 13111650 T C - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13111650 13111650 Chr1(GRCh37):g.13111650T>C 365 365 ENST00000622421.2:c.365A>G p.His122Arg p.His122Arg 3 78 3' 91.5957 XI.51 0.983765 8.52884 91.5957 XI.51 0.983765 9.08819 0 New Donor Site 13111651 2.63157 0.015982 63.3317 0.001762 0.003469 0.001255 0.000000 0.001971 0.000000 0.001138 0.006098 0.001894 0.006098 64 25 8 0 7 0 15 7 2 36332 7206 6376 720 3552 3088 13186 1148 1056 0.000275 0.000000 0.000627 0.000000 0.001126 0.000000 0.000152 0.000000 0.000000 5 0 2 0 2 0 1 0 0 54 25 4 0 3 0 13 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -4.072 H His CAT 0.413 R Arg CGT 0.082 122 12 6 Horse 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 65.67 0.00 Tolerated 0.88 II.65 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 34.0 . . . . . . . . . . -2.2317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.36 182 ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.37 rs201024050 . . . . . . . . . . . . IV.09 . . I.21 -2.41 . 0.360000 . . . . . . . . . . 0.0003 0.0006 0.0013 0 0.0015 0 0.0003 0.0012 0 0.0073 0.0061 0 0 0.01 0.0094 0.0042 0.005 . . . . -4.265 -4.265000 . . 0.360000 . . 1.0E-255 . . . . . . . . . -4.265 . . rs2486697 rs2486697 rs2486697 rs201024050 1 1538 10 1/0 0,255,255 +. 1 13112400 T C - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13112400 13112400 Chr1(GRCh37):g.13112400T>C 281 281 ENST00000622421.2:c.281A>G p.His94Arg p.His94Arg 2 -7 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.965256 8.25011 -0.00133761 Cryptic Donor Strongly Activated 13112405 0.010585 55.1721 0.981326 0.31737 67.3237 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.086 H His CAT 0.413 R Arg CGT 0.082 94 12 2 Pig 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 242.52 0.00 Tolerated 1 II.82 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 32.0 . . . . . . . . . . -2.1204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . II.87 . . I.21 -2.41 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.143 -1.143000 . . 1.000000 . . 1.0E-197 . . . . . . . . . -1.143 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13112401 G A - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13112401 13112401 Chr1(GRCh37):g.13112401G>A 280 280 ENST00000622421.2:c.280C>T p.His94Tyr p.His94Tyr 2 -8 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.14667 0 Cryptic Acceptor Weakly Activated 13112393 2.24177 0.457564 76.6334 2.49949 0.493134 78.4432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 0.044 H His CAT 0.413 Y Tyr TAT 0.438 94 12 2 Pig 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 242.52 46.92 Tolerated 0.06 II.82 194 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 34.0 . . . . . . . . . . -0.8230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.01 . . . . . . . . . . . . . 3.392 . . I.21 0.203 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.066 0.066000 . . 0.000000 . . 1.0E-194 . . . . . . . . . 0.066 . . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,255,255 +rs758125604 1 13112426 C A - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13112426 13112426 Chr1(GRCh37):g.13112426C>A 255 255 ENST00000622421.2:c.255G>T p.Leu85= p.Leu85Leu 2 -33 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.62468 0 rs758125604 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G T G>T 0.008 -0.602 L Leu CTG 0.404 L Leu CTT 0.129 85 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.6573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.31 182 ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758125604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . rs6604939 rs6604939 rs6604939 rs6604939 1 1538 10 1/0 0,255,255 +. 1 13112513 C T - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13112513 13112513 Chr1(GRCh37):g.13112513C>T 168 168 ENST00000622421.2:c.168G>A p.Val56= p.Val56Val 2 -120 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.84359 0 Cryptic Donor Strongly Activated 13112516 0.005056 58.8643 3.49948 0.070451 63.2266 transition G A G>A 0.823 0.932 V Val GTG 0.468 V Val GTA 0.114 56 198 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . 0.4770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,234,255 +. 1 13112632 G C - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13112632 13112632 Chr1(GRCh37):g.13112632G>C 49 49 ENST00000622421.2:c.49C>G p.Leu17Val p.Leu17Val 2 71 3' 74.0275 2.64252 0.042293 3.62516 74.0275 2.64252 0.042293 3.83351 0 transversion C G C>G 0.157 0.932 L Leu CTG 0.404 V Val GTG 0.468 17 12 10 Pig 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 30.92 0.00 Tolerated 0.4 II.65 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.377 . @ . . . . . 1 0.615 . . 60.0 . . . . . . . . . . -0.2174 -0.540 -0.217 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.502 . . exonic exonic exonic . . 0.201 @ . . . 0.37 0.28 182 ENSG00000232423 PRAMEF5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.340 . . . . T 0.045 0.002 . . 37 . 0.362 . . 0.034 . . . 0.887 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.623 . . 0 0 0 0 0 0 . 0.764 . . 0.875 . . . . . . 0 0.912 . . . . . 0.175 . 0.294 . HET 0 . . . . . . . . . . . . . V.96 . . I.21 I.21 . 0.010000 . . . . . . 0.074 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.962 0.962000 . . 0.010000 . . 1.0E-255 0.084 0.222 . 0.175 0.019 . 0.218 . 0.286 0.962 0.518 . rs61779373 rs61779373 rs61779373 rs61779373 1 1538 10 1/0 0,255,255 +. 1 13112634 C T - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13112634 13112634 Chr1(GRCh37):g.13112634C>T 47 47 ENST00000622421.2:c.47G>A p.Ser16Asn p.Ser16Asn 2 69 3' 74.0275 2.64252 0.042293 3.62516 74.0275 2.64252 0.042293 3.48429 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.157 0.932 S Ser AGC 0.243 N Asn AAC 0.536 16 12 9 Horse 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 126.06 0.00 Tolerated 0.25 II.65 194 PASS . . . . . . . . . . . . . . . . 0.14545454 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.170 . @ . . . . . 1 0.237 . . 55.0 . . . . . . . . . . -0.6255 -0.835 -0.625 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.201 @ . . . 0.37 0.27 182 ENSG00000232423 PRAMEF5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.348 . . . . T 0.004 0.001 . . 37 . 0.099 . . 0.118 . . . 0.767 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.353 . . 0.380 . . . . . . 0 . . . . . . 0.175 . 0.222 . LowAF 0.1 . . . . . . . . . . . . . V.96 . . I.21 I.21 . 0.040000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.962 0.962000 . . 0.040000 . . 1.0E-194 0.001 0.137 . 0.159 0.007 . 0.082 . 0.282 0.962 0.493 . rs7552626 rs7552626 rs7552626 rs7552626 1 1538 10 1/0 0,255,255 +rs771860483 (chr1:13140576 G/A) 1 13140576 G A Not on a known gene +. (chr1:13144618 C/T) 1 13144618 C T Not on a known gene +rs113366699 (chr1:13144632 C/T) 1 13144632 C T Not on a known gene +. (chr1:13144712 C/T) 1 13144712 C T Not on a known gene +. (chr1:13144713 A/G) 1 13144713 A G Not on a known gene +rs1966160 (chr1:13219438 C/T) 1 13219438 C T Not on a known gene +rs185031606 (chr1:13219631 C/T) 1 13219631 C T Not on a known gene +rs56276757 (chr1:13329186 C/A) 1 13329186 C A Not on a known gene +rs28687701 (chr1:13329189 G/C) 1 13329189 G C Not on a known gene +. (chr1:13329337 A/G) 1 13329337 A G Not on a known gene +rs56101354 (chr1:13329350 A/T) 1 13329350 A T Not on a known gene +. (chr1:13329354 T/C) 1 13329354 T C Not on a known gene +rs56066665 (chr1:13329391 T/C) 1 13329391 T C Not on a known gene +rs61780078 (chr1:13330627 G/A) 1 13330627 G A Not on a known gene +. (chr1:13352193 C/T) 1 13352193 C T Not on a known gene +rs751264340 (chr1:13364959 G/A) 1 13364959 G A Not on a known gene +. (chr1:13365170 C/T) 1 13365170 C T Not on a known gene +. (chr1:13365171 A/G) 1 13365171 A G Not on a known gene +. (chr1:13366234 A/G) 1 13366234 A G Not on a known gene +. (chr1:13366276 C/T) 1 13366276 C T Not on a known gene +rs200895952 (chr1:13366377 C/A) 1 13366377 C A Not on a known gene +rs11578329 (chr1:13368536 C/G) 1 13368536 C G Not on a known gene +rs7417152 (chr1:13368550 C/G) 1 13368550 C G Not on a known gene +. (chr1:13368564 A/G) 1 13368564 A G Not on a known gene +rs879464995 (chr1:13387093 C/G) 1 13387093 C G Not on a known gene +. (chr1:13412263 G/A) 1 13412263 G A Not on a known gene +. 1 13424057 C G - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424057 13424057 Chr1(GRCh37):g.13424057C>G 55 55 NM_001098376.2:c.55C>G p.Leu19Val p.Leu19Val 2 71 3' 74.0275 2.64252 0.026528 3.08331 74.0275 2.64252 0.026528 3.29166 0 COSM6388606 Thyroid 0.004016 747 transversion C G C>G 0.008 -0.037 L Leu CTG 0.404 V Val GTG 0.468 19 14 7 Little brown bat 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.51 II.76 good 1.124E-1 0.0004207 213 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C55G:p.L19V PRAMEF9:uc001auw.1:exon2:c.C55G:p.L19V . . . 0.19444445 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.4825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . 4.0212 . ENST00000376152 1.III -0.228 . 0.090000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.053 -0.053000 . . 0.090000 . . 1.0E-213 . . . . . . . . . -0.053 . . . . . . 1 1538 10 1/0 0,248,255 +. (chr1:13424057 C/G) 1 13424057 C G Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424057 C/G) 1 13424057 C G Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424057 C G - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution missense exon GRCh37 13424057 13424057 Chr1(GRCh37):g.13424057C>G 55 55 NM_001300891.1:c.55C>G p.Leu19Val p.Leu19Val 1 -239 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.49847 0 COSM6388606 Thyroid 0.004016 747 transversion C G C>G 0.008 -0.037 L Leu CTG 0.404 V Val GTG 0.468 19 1 1 1 0 0 4.IX 5.IX 111 84 32 213 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C55G:p.L19V PRAMEF9:uc001auw.1:exon2:c.C55G:p.L19V . . . 0.19444445 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.4825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . 4.0212 . ENST00000376152 1.III -0.228 . 0.090000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.053 -0.053000 . . 0.090000 . . 1.0E-213 . . . . . . . . . -0.053 . . . . . . 1 1538 10 1/0 0,248,255 +. 1 13424057 C G - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424057 13424057 Chr1(GRCh37):g.13424057C>G 55 55 NM_001010890.2:c.55C>G p.Leu19Val p.Leu19Val 1 -239 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.71737 0 COSM6388606 Thyroid 0.004016 747 transversion C G C>G 0.008 -0.037 L Leu CTG 0.404 V Val GTG 0.468 19 12 9 Pig 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 235.27 0.00 Tolerated 0.42 II.62 213 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C55G:p.L19V PRAMEF9:uc001auw.1:exon2:c.C55G:p.L19V . . . 0.19444445 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.4825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . 4.0212 . ENST00000376152 1.III -0.228 . 0.090000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.053 -0.053000 . . 0.090000 . . 1.0E-213 . . . . . . . . . -0.053 . . . . . . 1 1538 10 1/0 0,248,255 +. 1 13424074 T C - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution synonymous exon GRCh37 13424074 13424074 Chr1(GRCh37):g.13424074T>C 72 72 NM_001098376.2:c.72T>C p.Ala24= p.Ala24Ala 2 88 3' 74.0275 2.64252 0.026528 3.08331 74.0275 2.64252 0.026528 3.08331 0 transition T C T>C 0.000 -0.037 A Ala GCT 0.263 A Ala GCC 0.403 24 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T72C:p.A24A PRAMEF9:uc001auw.1:exon2:c.T72C:p.A24A . . . 0.43037975 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.29 0.23 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2933094 rs2933094 rs2933094 rs2933094 1 1538 10 1/0 0,255,255 +. (chr1:13424074 T/C) 1 13424074 T C Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424074 T/C) 1 13424074 T C Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. (chr1:13424074 T/C) 1 13424074 T C Transcript NM_001300891.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF27 +. (chr1:13424074 T/C) 1 13424074 T C Transcript NM_001010890.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF9 +. 1 13424150 C T - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424150 13424150 Chr1(GRCh37):g.13424150C>T 148 148 NM_001098376.2:c.148C>T p.Arg50Cys p.Arg50Cys 2 -146 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.99503 0 COSM1600019|COSM1600019|COSM1600019 Thyroid|Large intestine|Central nervous system 0.002677|0.000450|0.000424 747|2220|2361 transition C T C>T 0.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 50 14 5 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.19 II.63 good 1.053E-1 0.2187 206 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C148T:p.R50C PRAMEF9:uc001auw.1:exon2:c.C148T:p.R50C . . . 0.17355372 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.9774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . ID\x3dCOSM1600019\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . V.63 . ENST00000376152 1.VII 1.VII . 0.060000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.868 0.868000 . . 0.060000 . . 1.0E-206 . . . . . . . . . 0.868 . . . . . . 1 1538 10 1/0 0,224,255 +. 1 13424150 C T - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution missense exon GRCh37 13424150 13424150 Chr1(GRCh37):g.13424150C>T 148 148 ENST00000619661.2:c.148C>T p.Arg50Cys p.Arg50Cys 2 -146 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.77737 0 COSM1600019|COSM1600019|COSM1600019 Thyroid|Large intestine|Central nervous system 0.002677|0.000450|0.000424 747|2220|2361 transition C T C>T 0.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 50 12 5 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 226.45 0.00 Tolerated 0.08 II.63 206 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C148T:p.R50C PRAMEF9:uc001auw.1:exon2:c.C148T:p.R50C . . . 0.17355372 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.9774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . ID\x3dCOSM1600019\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . V.63 . ENST00000376152 1.VII 1.VII . 0.060000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.868 0.868000 . . 0.060000 . . 1.0E-206 . . . . . . . . . 0.868 . . . . . . 1 1538 10 1/0 0,224,255 +. 1 13424150 C T - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution missense exon GRCh37 13424150 13424150 Chr1(GRCh37):g.13424150C>T 148 148 NM_001306072.1:c.148C>T p.Arg50Cys p.Arg50Cys 1 -146 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.77737 0 COSM1600019|COSM1600019|COSM1600019 Thyroid|Large intestine|Central nervous system 0.002677|0.000450|0.000424 747|2220|2361 transition C T C>T 0.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 50 12 5 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 262.60 0.00 Deleterious 0.01 II.55 206 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C148T:p.R50C PRAMEF9:uc001auw.1:exon2:c.C148T:p.R50C . . . 0.17355372 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.9774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . ID\x3dCOSM1600019\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . V.63 . ENST00000376152 1.VII 1.VII . 0.060000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.868 0.868000 . . 0.060000 . . 1.0E-206 . . . . . . . . . 0.868 . . . . . . 1 1538 10 1/0 0,224,255 +. (chr1:13424150 C/T) 1 13424150 C T Transcript NM_001300891.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PRAMEF27 +. 1 13424150 C T - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424150 13424150 Chr1(GRCh37):g.13424150C>T 148 148 NM_001010890.2:c.148C>T p.Arg50Cys p.Arg50Cys 1 -146 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.71737 0 COSM1600019|COSM1600019|COSM1600019 Thyroid|Large intestine|Central nervous system 0.002677|0.000450|0.000424 747|2220|2361 transition C T C>T 0.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 50 12 6 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 241.74 79.30 Deleterious 0 II.62 206 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C148T:p.R50C PRAMEF9:uc001auw.1:exon2:c.C148T:p.R50C . . . 0.17355372 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.9774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . ID\x3dCOSM1600019\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . V.63 . ENST00000376152 1.VII 1.VII . 0.060000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.868 0.868000 . . 0.060000 . . 1.0E-206 . . . . . . . . . 0.868 . . . . . . 1 1538 10 1/0 0,224,255 +. 1 13424176 G A - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution synonymous exon GRCh37 13424176 13424176 Chr1(GRCh37):g.13424176G>A 174 174 NM_001098376.2:c.174G>A p.Val58= p.Val58Val 2 -120 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.99503 0 Cryptic Donor Strongly Activated 13424173 0.005056 58.8643 3.49948 0.070451 63.2266 COSM3930316|COSM3930316 Urinary tract|Haematopoietic and lymphoid tissue 0.001488|0.000567 672|3530 transition G A G>A 0.327 0.851 V Val GTG 0.468 V Val GTA 0.114 58 229 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G174A:p.V58V PRAMEF9:uc001auw.1:exon2:c.G174A:p.V58V . . . 0.24060151 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.1950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.2 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930316\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,226,255 +. (chr1:13424176 G/A) 1 13424176 G A Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424176 G/A) 1 13424176 G A Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424176 G A - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution synonymous exon GRCh37 13424176 13424176 Chr1(GRCh37):g.13424176G>A 174 174 NM_001300891.1:c.174G>A p.Val58= p.Val58Val 1 -120 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.49847 0 Cryptic Donor Strongly Activated 13424173 0.005056 58.8643 3.49948 0.070451 63.2266 COSM3930316|COSM3930316 Urinary tract|Haematopoietic and lymphoid tissue 0.001488|0.000567 672|3530 transition G A G>A 0.327 0.851 V Val GTG 0.468 V Val GTA 0.114 58 229 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G174A:p.V58V PRAMEF9:uc001auw.1:exon2:c.G174A:p.V58V . . . 0.24060151 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.1950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.2 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930316\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,226,255 +. 1 13424176 G A - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution synonymous exon GRCh37 13424176 13424176 Chr1(GRCh37):g.13424176G>A 174 174 NM_001010890.2:c.174G>A p.Val58= p.Val58Val 1 -120 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.71737 0 Cryptic Donor Strongly Activated 13424173 0.005056 58.8643 3.49948 0.070451 63.2266 COSM3930316|COSM3930316 Urinary tract|Haematopoietic and lymphoid tissue 0.001488|0.000567 672|3530 transition G A G>A 0.327 0.851 V Val GTG 0.468 V Val GTA 0.114 58 229 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G174A:p.V58V PRAMEF9:uc001auw.1:exon2:c.G174A:p.V58V . . . 0.24060151 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.1950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.2 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930316\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,226,255 +. 1 13424237 G A - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424237 13424237 Chr1(GRCh37):g.13424237G>A 235 235 NM_001098376.2:c.235G>A p.Ala79Thr p.Ala79Thr 2 -59 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 8.37774 0 COSM5427583|COSM5427583 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.000 -0.602 A Ala GCC 0.403 T Thr ACC 0.361 79 14 2 Chimp 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.87 II.54 good 8.889E-1 0.4742 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G235A:p.A79T PRAMEF9:uc001auw.1:exon2:c.G235A:p.A79T . . . 0.35460994 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 141.0 . . . . . . . . . . -1.6605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.33 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . IV.09 . ENST00000376152 1.V -2.1 . 1.000000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.671 -0.671000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.671 . . . . rs75875937 rs75875937 1 1538 10 1/0 0,235,255 +. (chr1:13424237 G/A) 1 13424237 G A Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424237 G/A) 1 13424237 G A Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424237 G A - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution missense exon GRCh37 13424237 13424237 Chr1(GRCh37):g.13424237G>A 235 235 NM_001300891.1:c.235G>A p.Ala79Thr p.Ala79Thr 1 -59 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.88117 0 COSM5427583|COSM5427583 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.000 -0.602 A Ala GCC 0.403 T Thr ACC 0.361 79 0 0 0 0 0.71 8.I 8.VI 31 61 58 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G235A:p.A79T PRAMEF9:uc001auw.1:exon2:c.G235A:p.A79T . . . 0.35460994 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 141.0 . . . . . . . . . . -1.6605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.33 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . IV.09 . ENST00000376152 1.V -2.1 . 1.000000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.671 -0.671000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.671 . . . . rs75875937 rs75875937 1 1538 10 1/0 0,235,255 +. 1 13424237 G A - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424237 13424237 Chr1(GRCh37):g.13424237G>A 235 235 NM_001010890.2:c.235G>A p.Ala79Thr p.Ala79Thr 1 -59 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 8.10007 0 COSM5427583|COSM5427583 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.000 -0.602 A Ala GCC 0.403 T Thr ACC 0.361 79 12 3 Cat 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 241.08 0.00 Tolerated 0.51 II.62 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G235A:p.A79T PRAMEF9:uc001auw.1:exon2:c.G235A:p.A79T . . . 0.35460994 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 141.0 . . . . . . . . . . -1.6605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.33 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . IV.09 . ENST00000376152 1.V -2.1 . 1.000000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.671 -0.671000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.671 . . . . rs75875937 rs75875937 1 1538 10 1/0 0,235,255 +. 1 13424255 G A - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424255 13424255 Chr1(GRCh37):g.13424255G>A 253 253 NM_001098376.2:c.253G>A p.Asp85Asn p.Asp85Asn 2 -41 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.71554 0 COSM5480716 Large intestine 0.000450 2220 transition G A G>A 0.028 -0.037 D Asp GAT 0.461 N Asn AAT 0.464 85 14 6 Little brown bat 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.65 II.54 good 9.422E-1 0.5114 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G253A:p.D85N PRAMEF9:uc001auw.1:exon2:c.G253A:p.D85N . . . 0.38235295 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . -0.9277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.3 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.77 . ENST00000376152 1.V 0.0313 . 0.020000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 0.012000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 0.012 . . . . rs78478513 rs78478513 1 1538 10 1/0 0,239,255 +. (chr1:13424255 G/A) 1 13424255 G A Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424255 G/A) 1 13424255 G A Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424255 G A - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution missense exon GRCh37 13424255 13424255 Chr1(GRCh37):g.13424255G>A 253 253 NM_001300891.1:c.253G>A p.Asp85Asn p.Asp85Asn 1 -41 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.21897 0 COSM5480716 Large intestine 0.000450 2220 transition G A G>A 0.028 -0.037 D Asp GAT 0.461 N Asn AAT 0.464 85 2 1 2 I.38 I.33 13 11.VI 54 56 23 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G253A:p.D85N PRAMEF9:uc001auw.1:exon2:c.G253A:p.D85N . . . 0.38235295 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . -0.9277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.3 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.77 . ENST00000376152 1.V 0.0313 . 0.020000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 0.012000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 0.012 . . . . rs78478513 rs78478513 1 1538 10 1/0 0,239,255 +. 1 13424255 G A - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424255 13424255 Chr1(GRCh37):g.13424255G>A 253 253 NM_001010890.2:c.253G>A p.Asp85Asn p.Asp85Asn 1 -41 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.43788 0 COSM5480716 Large intestine 0.000450 2220 transition G A G>A 0.028 -0.037 D Asp GAT 0.461 N Asn AAT 0.464 85 12 9 Pig 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 268.84 0.00 Tolerated 0.45 II.62 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G253A:p.D85N PRAMEF9:uc001auw.1:exon2:c.G253A:p.D85N . . . 0.38235295 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . -0.9277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.3 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.77 . ENST00000376152 1.V 0.0313 . 0.020000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 0.012000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 0.012 . . . . rs78478513 rs78478513 1 1538 10 1/0 0,239,255 +rs879986840 1 13424263 T G - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution synonymous exon GRCh37 13424263 13424263 Chr1(GRCh37):g.13424263T>G 261 261 NM_001098376.2:c.261T>G p.Leu87= p.Leu87Leu 2 -33 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 8.21394 0 rs879986840 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.008 -0.198 L Leu CTT 0.129 L Leu CTG 0.404 87 189 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T261G:p.L87L PRAMEF9:uc001auw.1:exon2:c.T261G:p.L87L . . . 0.1328125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.3540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.35 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,219,255 +rs879986840 1 13424263 T G - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution synonymous exon GRCh37 13424263 13424263 Chr1(GRCh37):g.13424263T>G 261 261 ENST00000619661.2:c.261T>G p.Leu87= p.Leu87Leu 2 -33 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.99627 0 rs879986840 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.008 -0.198 L Leu CTT 0.129 L Leu CTG 0.404 87 189 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T261G:p.L87L PRAMEF9:uc001auw.1:exon2:c.T261G:p.L87L . . . 0.1328125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.3540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.35 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,219,255 +rs879986840 1 13424263 T G - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution synonymous exon GRCh37 13424263 13424263 Chr1(GRCh37):g.13424263T>G 261 261 NM_001306072.1:c.261T>G p.Leu87= p.Leu87Leu 1 -33 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.99627 0 rs879986840 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.008 -0.198 L Leu CTT 0.129 L Leu CTG 0.404 87 189 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T261G:p.L87L PRAMEF9:uc001auw.1:exon2:c.T261G:p.L87L . . . 0.1328125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.3540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.35 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,219,255 +rs879986840 1 13424263 T G - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution synonymous exon GRCh37 13424263 13424263 Chr1(GRCh37):g.13424263T>G 261 261 NM_001300891.1:c.261T>G p.Leu87= p.Leu87Leu 1 -33 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.71737 0 rs879986840 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.008 -0.198 L Leu CTT 0.129 L Leu CTG 0.404 87 189 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T261G:p.L87L PRAMEF9:uc001auw.1:exon2:c.T261G:p.L87L . . . 0.1328125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.3540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.35 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,219,255 +rs879986840 (chr1:13424263 T/G) 1 13424263 T G Transcript NM_001010890.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF9 +. 1 13424281 A C - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424281 13424281 Chr1(GRCh37):g.13424281A>C 279 279 NM_001098376.2:c.279A>C p.Gln93His p.Gln93His 2 -15 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 8.67416 0 Cryptic Acceptor Strongly Activated 13424296 2.74313 0.429739 76.5854 5.81738 0.761608 76.5854 COSM5427584 Haematopoietic and lymphoid tissue 0.000283 3530 transversion A C A>C 0.000 -0.521 Q Gln CAA 0.256 H His CAC 0.587 93 14 9 Little brown bat 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Tolerated 0.08 II.54 good 6.877E-1 0.1547 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.A279C:p.Q93H PRAMEF9:uc001auw.1:exon2:c.A279C:p.Q93H . . . 0.45360824 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 97.0 . . . . . . . . . . -1.4265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.34 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . 4.1745 . ENST00000376152 1.VII -1.71 . 0.070000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.552 -0.552000 . . 0.070000 . . 1.0E-255 . . . . . . . . . -0.552 . . . . rs77493267 rs77493267 1 1538 10 1/0 0,255,255 +. (chr1:13424281 A/C) 1 13424281 A C Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424281 A/C) 1 13424281 A C Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424281 A C - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution missense exon GRCh37 13424281 13424281 Chr1(GRCh37):g.13424281A>C 279 279 NM_001300891.1:c.279A>C p.Gln93His p.Gln93His 1 -15 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 8.17759 0 Cryptic Acceptor Strongly Activated 13424296 3.37178 0.490759 78.3953 6.44603 0.783527 78.3953 COSM5427584 Haematopoietic and lymphoid tissue 0.000283 3530 transversion A C A>C 0.000 -0.521 Q Gln CAA 0.256 H His CAC 0.587 93 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.A279C:p.Q93H PRAMEF9:uc001auw.1:exon2:c.A279C:p.Q93H . . . 0.45360824 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 97.0 . . . . . . . . . . -1.4265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.34 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . 4.1745 . ENST00000376152 1.VII -1.71 . 0.070000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.552 -0.552000 . . 0.070000 . . 1.0E-255 . . . . . . . . . -0.552 . . . . rs77493267 rs77493267 1 1538 10 1/0 0,255,255 +. 1 13424281 A C - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424281 13424281 Chr1(GRCh37):g.13424281A>C 279 279 NM_001010890.2:c.279A>C p.Gln93His p.Gln93His 1 -15 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 8.39649 0 Cryptic Acceptor Strongly Activated 13424296 3.37178 0.490759 78.3953 6.44603 0.783527 78.3953 COSM5427584 Haematopoietic and lymphoid tissue 0.000283 3530 transversion A C A>C 0.000 -0.521 Q Gln CAA 0.256 H His CAC 0.587 93 12 5 Pig 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 243.26 0.00 Tolerated 0.17 II.82 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.A279C:p.Q93H PRAMEF9:uc001auw.1:exon2:c.A279C:p.Q93H . . . 0.45360824 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 97.0 . . . . . . . . . . -1.4265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.34 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . 4.1745 . ENST00000376152 1.VII -1.71 . 0.070000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.552 -0.552000 . . 0.070000 . . 1.0E-255 . . . . . . . . . -0.552 . . . . rs77493267 rs77493267 1 1538 10 1/0 0,255,255 +rs2994117 1 13424288 C T - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424288 13424288 Chr1(GRCh37):g.13424288C>T 286 286 NM_001098376.2:c.286C>T p.Arg96Cys p.Arg96Cys 2 -8 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.49847 0 Cryptic Acceptor Strongly Activated 13424296 2.74313 0.429739 76.5854 3.37178 0.490759 78.3953 rs2994117 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes COSM5427160 Haematopoietic and lymphoid tissue 0.000567 3530 transition C T C>T 0.000 -0.521 R Arg CGT 0.082 C Cys TGT 0.448 96 14 6 Little brown bat -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.18 II.54 good 3.216E-1 0.5225 250 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C286T:p.R96C PRAMEF9:uc001auw.1:exon2:c.C286T:p.R96C . . . 0.3063063 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 111.0 . . . . . . . . . . -0.8468 -1.153 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.077 @ . . . 0.23 0.2 182 ENSG00000204501 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.596 0.041 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.096 . . . HET 0.07 rs2994117 . . . . . . . . . . . . 4.1339 . ENST00000376152 1.VII -1.71 . 0.140000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.529 -0.529000 . . 0.140000 . . 1.0E-250 0.000 0.063 . 0.043 . . 0.139 . 0.092 -0.529 . . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,242,255 +rs2994117 1 13424288 C T - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution missense exon GRCh37 13424288 13424288 Chr1(GRCh37):g.13424288C>T 286 286 ENST00000619661.2:c.286C>T p.Arg96Cys p.Arg96Cys 2 -8 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 VIII.08 0 rs2994117 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes COSM5427160 Haematopoietic and lymphoid tissue 0.000567 3530 transition C T C>T 0.000 -0.521 R Arg CGT 0.082 C Cys TGT 0.448 96 12 8 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 242.52 56.64 Deleterious 0.01 II.80 250 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C286T:p.R96C PRAMEF9:uc001auw.1:exon2:c.C286T:p.R96C . . . 0.3063063 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 111.0 . . . . . . . . . . -0.8468 -1.153 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.077 @ . . . 0.23 0.2 182 ENSG00000204501 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.596 0.041 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.096 . . . HET 0.07 rs2994117 . . . . . . . . . . . . 4.1339 . ENST00000376152 1.VII -1.71 . 0.140000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.529 -0.529000 . . 0.140000 . . 1.0E-250 0.000 0.063 . 0.043 . . 0.139 . 0.092 -0.529 . . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,242,255 +rs2994117 1 13424288 C T - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution missense exon GRCh37 13424288 13424288 Chr1(GRCh37):g.13424288C>T 286 286 NM_001306072.1:c.286C>T p.Arg96Cys p.Arg96Cys 1 -8 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 VIII.08 0 rs2994117 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes COSM5427160 Haematopoietic and lymphoid tissue 0.000567 3530 transition C T C>T 0.000 -0.521 R Arg CGT 0.082 C Cys TGT 0.448 96 12 7 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0.04 II.72 250 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C286T:p.R96C PRAMEF9:uc001auw.1:exon2:c.C286T:p.R96C . . . 0.3063063 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 111.0 . . . . . . . . . . -0.8468 -1.153 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.077 @ . . . 0.23 0.2 182 ENSG00000204501 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.596 0.041 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.096 . . . HET 0.07 rs2994117 . . . . . . . . . . . . 4.1339 . ENST00000376152 1.VII -1.71 . 0.140000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.529 -0.529000 . . 0.140000 . . 1.0E-250 0.000 0.063 . 0.043 . . 0.139 . 0.092 -0.529 . . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,242,255 +rs2994117 (chr1:13424288 C/T) 1 13424288 C T Transcript NM_001300891.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PRAMEF27 +rs2994117 (chr1:13424288 C/T) 1 13424288 C T Transcript NM_001010890.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PRAMEF9 +. 1 13424305 C G - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 NM_001098376.2:c.293+10C>G p.? p.? 2 2 10 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.80743 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13424305 C G - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 ENST00000619661.2:c.293+10C>G p.? p.? 2 2 10 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.58976 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13424305 C G - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 NM_001306072.1:c.293+10C>G p.? p.? 1 1 10 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.58976 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13424305 C G - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 NM_001300891.1:c.293+10C>G p.? p.? 1 1 10 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.31086 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13424305 C G - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 NM_001010890.2:c.293+10C>G p.? p.? 1 1 10 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.52976 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13425077 A C - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13425077 13425077 Chr1(GRCh37):g.13425077A>C 404 404 NM_001098376.2:c.404A>C p.Lys135Thr p.Lys135Thr 3 111 3' 90.7315 8.97203 0.964838 5.59303 90.7315 8.97203 0.964838 5.59303 0 0.000846 0.001497 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001497 1 1 0 0 0 0 0 0 0 1182 668 162 2 200 70 46 0 34 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6389370 Thyroid 0.002677 747 transversion A C A>C 0.000 0.044 K Lys AAA 0.425 T Thr ACA 0.280 135 14 4 Guinea pig -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 353.86 0.00 Tolerated 0.51 II.65 good 3.607E-1 0.5012 210 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon3:c.A404C:p.K135T PRAMEF9:uc001auw.1:exon3:c.A404C:p.K135T . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . -0.7859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.14 0.19 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . III.21 . ENST00000376152 I.19 0.137 . 0.130000 Q5VWM5 . . . . . . . . . 0.0015 0.0009 0 0 0 . 0 0 0 0 0 . . . . . . . . . . 0.043 0.043000 . . 0.130000 . . 1.0E-210 . . . . . . . . . 0.043 . . rs2153358 rs2153358 rs2153358 rs2153358 1 1538 10 1/0 0,217,255 +. 1 13425077 A C - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution missense exon GRCh37 13425077 13425077 Chr1(GRCh37):g.13425077A>C 404 404 ENST00000619661.2:c.404A>C p.Lys135Thr p.Lys135Thr 3 111 3' 90.7315 8.97203 0.956956 5.72621 90.7315 8.97203 0.956956 5.72621 0 0.000846 0.001497 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001497 1 1 0 0 0 0 0 0 0 1182 668 162 2 200 70 46 0 34 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6389370 Thyroid 0.002677 747 transversion A C A>C 0.000 0.044 K Lys AAA 0.425 T Thr ACA 0.280 135 12 3 Macaque -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 119.02 0.00 Tolerated 0.49 II.63 210 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon3:c.A404C:p.K135T PRAMEF9:uc001auw.1:exon3:c.A404C:p.K135T . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . -0.7859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.14 0.19 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . III.21 . ENST00000376152 I.19 0.137 . 0.130000 Q5VWM5 . . . . . . . . . 0.0015 0.0009 0 0 0 . 0 0 0 0 0 . . . . . . . . . . 0.043 0.043000 . . 0.130000 . . 1.0E-210 . . . . . . . . . 0.043 . . rs2153358 rs2153358 rs2153358 rs2153358 1 1538 10 1/0 0,217,255 +. 1 13425077 A C - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution missense exon GRCh37 13425077 13425077 Chr1(GRCh37):g.13425077A>C 404 404 NM_001306072.1:c.404A>C p.Lys135Thr p.Lys135Thr 2 111 3' 90.7315 8.97203 0.956956 5.72621 90.7315 8.97203 0.956956 5.72621 0 0.000846 0.001497 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001497 1 1 0 0 0 0 0 0 0 1182 668 162 2 200 70 46 0 34 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6389370 Thyroid 0.002677 747 transversion A C A>C 0.000 0.044 K Lys AAA 0.425 T Thr ACA 0.280 135 12 3 Macaque -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 248.64 0.00 Tolerated 0.48 II.55 210 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon3:c.A404C:p.K135T PRAMEF9:uc001auw.1:exon3:c.A404C:p.K135T . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . -0.7859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.14 0.19 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . III.21 . ENST00000376152 I.19 0.137 . 0.130000 Q5VWM5 . . . . . . . . . 0.0015 0.0009 0 0 0 . 0 0 0 0 0 . . . . . . . . . . 0.043 0.043000 . . 0.130000 . . 1.0E-210 . . . . . . . . . 0.043 . . rs2153358 rs2153358 rs2153358 rs2153358 1 1538 10 1/0 0,217,255 +. (chr1:13425077 A/C) 1 13425077 A C Transcript NM_001300891.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF27 +. (chr1:13425077 A/C) 1 13425077 A C Transcript NM_001010890.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF9 +. 1 13449198 G A - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution intron GRCh37 13449198 13449198 Chr1(GRCh37):g.13449198G>A 866+362 866+362 NM_001291380.1:c.866+362C>T p.? p.? 3 3 362 5' 90.6189 10.0684 0.991903 2.92861 90.6189 10.0684 0.991903 2.92861 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.844 240 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.6649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.29 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . rs71183795 rs71183795 rs71183795 1 1538 10 1/0 0,255,255 +. 1 13449198 G A - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution intron GRCh37 13449198 13449198 Chr1(GRCh37):g.13449198G>A 866+362 866+362 NM_001024661.2:c.866+362C>T p.? p.? 3 3 362 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.844 240 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.6649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.29 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . rs71183795 rs71183795 rs71183795 1 1538 10 1/0 0,255,255 +rs61778603 (chr1:13449633 T/C) 1 13449633 T C Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +rs61778603 1 13449633 T C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449633 13449633 Chr1(GRCh37):g.13449633T>C 793 793 NM_001024661.2:c.793A>G p.Arg265Gly p.Arg265Gly 3 -74 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.92861 0 Cryptic Acceptor Strongly Activated 13449615 0.618115 0.000318 68.4311 0.860053 0.00041 68.4311 rs61778603 no no 0 T 0.000000 0 transition A G A>G 0.016 0.770 R Arg AGG 0.207 G Gly GGG 0.250 265 12 7 Pig -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 244.41 III.24 Tolerated 0.08 II.53 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A793G:p.R265G PRAMEF13:uc010obi.1:exon3:c.A793G:p.R265G . . . 0.5769231 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 78.0 . . . . . . . . . . -0.7055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.33 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.05 rs61778603 . . . . . . . . . . . . IV.28 . ENST00000376132 I.14 I.14 . 0.020000 Q5VWM6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.751 0.751000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 0.751 . . rs61778603 rs61778603 rs61778603 rs61778603 1 1538 10 1/0 0,255,255 +. (chr1:13449689 A/G) 1 13449689 A G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13449689 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449689 13449689 Chr1(GRCh37):g.13449689A>G 737 737 NM_001024661.2:c.737T>C p.Met246Thr p.Met246Thr 3 -130 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 Cryptic Donor Strongly Activated 13449689 0.013712 72.1736 1.22129 0.068517 71.4776 transition T C T>C 0.000 -1.086 M Met ATG 1.000 T Thr ACG 0.116 246 12 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 257.76 0.00 Tolerated 0.25 II.62 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T737C:p.M246T PRAMEF13:uc010obi.1:exon3:c.T737C:p.M246T . . . 0.56880736 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 109.0 . . . . . . . . . . -1.8321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.41 . . . . . . . . . . . . . IV.08 . ENST00000376132 0.799 -0.473 . 0.400000 Q5VWM6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.068 -1.068000 . . 0.400000 . . 1.0E-255 . . . . . . . . . -1.068 . . . . rs78380763 rs78380763 1 1538 10 1/0 0,255,255 +. (chr1:13449723 G/C) 1 13449723 G C Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13449723 G C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449723 13449723 Chr1(GRCh37):g.13449723G>C 703 703 NM_001024661.2:c.703C>G p.Arg235Gly p.Arg235Gly 3 -164 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 transversion C G C>G 0.000 -0.037 R Arg CGC 0.190 G Gly GGC 0.342 235 12 4 Cat -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 147.42 58.77 Tolerated 0.19 II.53 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.C703G:p.R235G PRAMEF13:uc010obi.1:exon3:c.C703G:p.R235G . . . 0.52678573 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 112.0 . . . . . . . . . . -0.9353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.28 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . 4.1695 . ENST00000376132 I.14 0.0207 . 0.150000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 0.004000 . . 0.150000 . . 1.0E-255 . . . . . . . . . 0.004 . . . . rs75542004 rs75542004 1 1538 10 1/0 0,255,255 +. (chr1:13449728 T/G) 1 13449728 T G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13449728 T G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449728 13449728 Chr1(GRCh37):g.13449728T>G 698 698 NM_001024661.2:c.698A>C p.Asn233Thr p.Asn233Thr 3 -169 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 transversion A C A>C 0.000 -0.037 N Asn AAT 0.464 T Thr ACT 0.243 233 12 9 Pig 0 0 0 I.33 0.71 11.VI 8.VI 56 61 65 C0 146.96 0.00 Tolerated 0.14 II.53 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A698C:p.N233T PRAMEF13:uc010obi.1:exon3:c.A698C:p.N233T . . . 0.49107143 . . @ 55 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 112.0 . . . . . . . . . . -0.8746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.33 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . III.92 . ENST00000376132 I.14 -0.306 . 0.010000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.098 -0.098000 . . 0.010000 . . 1.0E-255 . . . . . . . . . -0.098 . . . . rs75370450 rs75370450 1 1538 10 1/0 0,255,255 +. (chr1:13449788 C/T) 1 13449788 C T Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13449788 C T - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449788 13449788 Chr1(GRCh37):g.13449788C>T 638 638 NM_001024661.2:c.638G>A p.Arg213His p.Arg213His 3 -229 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 transition G A G>A 0.000 -0.117 R Arg CGC 0.190 H His CAC 0.587 213 12 6 Zebrafish 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 264.55 0.00 Tolerated 0.3 II.53 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.G638A:p.R213H PRAMEF13:uc010obi.1:exon3:c.G638A:p.R213H . . . 0.42222223 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 90.0 . . . . . . . . . . -1.2697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.3 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.56 . . . . . . . . . . . . . III.85 . ENST00000376132 1.II -0.454 . 0.670000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.116 -0.116000 . . 0.670000 . . 1.0E-255 . . . . . . . . . -0.116 . . . . rs76564987 rs76564987 1 1538 10 1/0 0,255,255 +rs61778604 1 13449801 G A - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution stop gain exon GRCh37 13449801 13449801 Chr1(GRCh37):g.13449801G>A 625 625 NM_001291380.1:c.625C>T p.Glu209* p.Glu209* 3 -242 5' 90.6189 10.0684 0.991903 2.92861 90.6189 10.0684 0.991903 2.92861 0 rs61778604 no no 0 G 0.000000 0 COSM6377715 Thyroid 0.002677 747 transition C T C>T 0.000 -0.360 E Glu GAG 0.583 * * TAG 0.234 209 128 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.C625T:p.Q209X PRAMEF13:uc010obi.1:exon3:c.C625T:p.Q209X . . . 0.26190478 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 84.0 . . . . . . . . . . -0.2621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.41 0.28 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 rs61778604 . . . . . . . . . . . . VI.94 . ENST00000376132 1.II 0.147 . 0.010000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.399 -0.399000 . . 0.010000 . . 1.0E-128 . . . . . . . . . -0.399 . . rs61778604 rs61778604 rs61778604 rs61778604 1 1538 10 1/0 0,255,255 +rs61778604 1 13449801 G A - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution stop gain exon GRCh37 13449801 13449801 Chr1(GRCh37):g.13449801G>A 625 625 NM_001024661.2:c.625C>T p.Gln209* p.Gln209* 3 -242 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 rs61778604 no no 0 G 0.000000 0 COSM6377715 Thyroid 0.002677 747 transition C T C>T 0.000 -0.360 Q Gln CAG 0.744 * * TAG 0.234 209 128 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.C625T:p.Q209X PRAMEF13:uc010obi.1:exon3:c.C625T:p.Q209X . . . 0.26190478 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 84.0 . . . . . . . . . . -0.2621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.41 0.28 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 rs61778604 . . . . . . . . . . . . VI.94 . ENST00000376132 1.II 0.147 . 0.010000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.399 -0.399000 . . 0.010000 . . 1.0E-128 . . . . . . . . . -0.399 . . rs61778604 rs61778604 rs61778604 rs61778604 1 1538 10 1/0 0,255,255 +rs61778605 1 13449832 T C - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution synonymous exon GRCh37 13449832 13449832 Chr1(GRCh37):g.13449832T>C 594 594 NM_001291380.1:c.594A>G p.Ser198= p.Ser198Ser 3 -273 5' 90.6189 10.0684 0.991903 2.92861 90.6189 10.0684 0.991903 2.92861 0 rs61778605 no no 0 T 0.000000 0 COSM5425023 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -0.521 S Ser TCA 0.148 S Ser TCG 0.056 198 221 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A594G:p.S198S PRAMEF13:uc010obi.1:exon3:c.A594G:p.S198S . . . 0.21621622 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.3062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.27 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61778605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs61778605 rs61778605 rs61778605 rs61778605 1 1538 10 1/0 0,250,255 +rs61778605 1 13449832 T C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13449832 13449832 Chr1(GRCh37):g.13449832T>C 594 594 NM_001024661.2:c.594A>G p.Ser198= p.Ser198Ser 3 -273 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 rs61778605 no no 0 T 0.000000 0 COSM5425023 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -0.521 S Ser TCA 0.148 S Ser TCG 0.056 198 221 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A594G:p.S198S PRAMEF13:uc010obi.1:exon3:c.A594G:p.S198S . . . 0.21621622 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.3062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.27 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61778605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs61778605 rs61778605 rs61778605 rs61778605 1 1538 10 1/0 0,250,255 +rs61778606 (chr1:13449922 A/G) 1 13449922 A G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +rs61778606 1 13449922 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13449922 13449922 Chr1(GRCh37):g.13449922A>G 504 504 NM_001024661.2:c.504T>C p.Phe168= p.Phe168Phe 3 217 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.48944 0 Cryptic Donor Strongly Activated 13449920 1.29728 0.004605 60.3787 3.06578 0.006287 64.5067 rs61778606 no no 0 A 0.000000 0 transition T C T>C 0.000 -2.458 F Phe TTT 0.454 F Phe TTC 0.546 168 202 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T504C:p.F168F PRAMEF13:uc010obi.1:exon3:c.T504C:p.F168F . . . 0.16666667 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.8117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.36 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61778606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs1856642 rs1856642 rs61778606 rs61778606 1 1538 10 1/0 0,255,255 +rs61778607 (chr1:13450014 A/G) 1 13450014 A G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +rs61778607 1 13450014 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13450014 13450014 Chr1(GRCh37):g.13450014A>G 412 412 NM_001024661.2:c.412T>C p.Cys138Arg p.Cys138Arg 3 125 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.48944 0 rs61778607 no no 0 A 0.000000 0 transition T C T>C 0.020 -0.521 C Cys TGT 0.448 R Arg CGT 0.082 138 12 3 Olive baboon -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 260.72 0.00 Tolerated 0.66 II.53 212 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T412C:p.C138R PRAMEF13:uc010obi.1:exon3:c.T412C:p.C138R . . . 0.34615386 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 52.0 . . . . . . . . . . -0.6591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.11 rs61778607 . . . . . . . . . . . . 1.517 . ENST00000376132 1.II -1.83 . 0.420000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.572 -0.572000 . . 0.420000 . . 1.0E-212 . . . . . . . . . -0.572 . . rs61778607 rs61778607 rs61778607 rs61778607 1 1538 10 1/0 0,255,255 +. 1 13450097 T C - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution missense exon GRCh37 13450097 13450097 Chr1(GRCh37):g.13450097T>C 329 329 NM_001291380.1:c.329A>G p.Glu110Gly p.Glu110Gly 3 42 3' 88.8374 X.83 0.97416 8.94779 88.8374 X.83 0.97416 8.96588 0 transition A G A>G 0.000 -0.037 E Glu GAG 0.583 G Gly GGG 0.250 110 12 4 Zebrafish -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 249.84 0.00 Tolerated 0.32 II.53 210 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A329G:p.E110G PRAMEF13:uc010obi.1:exon3:c.A329G:p.E110G . . . 0.1891892 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 37.0 . . . . . . . . . . -0.6154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . III.92 . ENST00000376132 I.14 -0.306 . 0.150000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.098 -0.098000 . . 0.150000 . . 1.0E-210 . . . . . . . . . -0.098 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450097 T C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13450097 13450097 Chr1(GRCh37):g.13450097T>C 329 329 NM_001024661.2:c.329A>G p.Glu110Gly p.Glu110Gly 3 42 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.50753 0 transition A G A>G 0.000 -0.037 E Glu GAG 0.583 G Gly GGG 0.250 110 12 4 Zebrafish -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 249.84 0.00 Tolerated 0.32 II.53 210 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A329G:p.E110G PRAMEF13:uc010obi.1:exon3:c.A329G:p.E110G . . . 0.1891892 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 37.0 . . . . . . . . . . -0.6154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . III.92 . ENST00000376132 I.14 -0.306 . 0.150000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.098 -0.098000 . . 0.150000 . . 1.0E-210 . . . . . . . . . -0.098 . . . . . . 1 1538 10 1/0 0,255,255 +. (chr1:13450099 A/G) 1 13450099 A G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13450099 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13450099 13450099 Chr1(GRCh37):g.13450099A>G 327 327 NM_001024661.2:c.327T>C p.Asp109= p.Asp109Asp 3 40 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.98025 0 COSM3930317|COSM3930317 Urinary tract|Haematopoietic and lymphoid tissue 0.001488|0.000283 672|3530 transition T C T>C 0.000 -0.521 D Asp GAT 0.461 D Asp GAC 0.539 109 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T327C:p.D109D PRAMEF13:uc010obi.1:exon3:c.T327C:p.D109D . . . 0.4 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.3527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.19 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930317\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063762 rs1063762 rs1063762 rs1063762 1 1538 10 1/0 0,255,255 +. 1 13450105 A G - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution synonymous exon GRCh37 13450105 13450105 Chr1(GRCh37):g.13450105A>G 321 321 NM_001291380.1:c.321T>C p.Asp107= p.Asp107Asp 3 34 3' 88.8374 X.83 0.97416 8.94779 88.8374 X.83 0.97416 9.22191 0 COSM3676748 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.682 D Asp GAT 0.461 D Asp GAC 0.539 107 222 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T321C:p.D107D PRAMEF13:uc010obi.1:exon3:c.T321C:p.D107D . . . 0.22222222 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.3589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450105 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13450105 13450105 Chr1(GRCh37):g.13450105A>G 321 321 NM_001024661.2:c.321T>C p.Asp107= p.Asp107Asp 3 34 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.76356 0 COSM3676748 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.682 D Asp GAT 0.461 D Asp GAC 0.539 107 222 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T321C:p.D107D PRAMEF13:uc010obi.1:exon3:c.T321C:p.D107D . . . 0.22222222 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.3589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450112 A T - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution stop gain exon GRCh37 13450112 13450112 Chr1(GRCh37):g.13450112A>T 314 314 NM_001291380.1:c.314T>A p.Leu105* p.Leu105* 3 27 3' 88.8374 X.83 0.97416 8.94779 88.8374 X.83 0.97416 8.58707 0 COSM5425054 Haematopoietic and lymphoid tissue 0.000283 3530 transversion T A T>A 0.260 0.770 L Leu TTG 0.127 * * TAG 0.234 105 203 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T314A:p.L105X PRAMEF13:uc010obi.1:exon3:c.T314A:p.L105X . . . 0.17142858 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 35.0 . . . . . . . . . . -0.0973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.28 . ENST00000376132 I.14 I.14 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.751 0.751000 . . 1.000000 . . 1.0E-203 . . . . . . . . . 0.751 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450112 A T - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution stop gain exon GRCh37 13450112 13450112 Chr1(GRCh37):g.13450112A>T 314 314 NM_001024661.2:c.314T>A p.Leu105* p.Leu105* 3 27 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.12872 0 COSM5425054 Haematopoietic and lymphoid tissue 0.000283 3530 transversion T A T>A 0.260 0.770 L Leu TTG 0.127 * * TAG 0.234 105 203 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T314A:p.L105X PRAMEF13:uc010obi.1:exon3:c.T314A:p.L105X . . . 0.17142858 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 35.0 . . . . . . . . . . -0.0973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.28 . ENST00000376132 I.14 I.14 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.751 0.751000 . . 1.000000 . . 1.0E-203 . . . . . . . . . 0.751 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450683 G C - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution missense exon GRCh37 13450683 13450683 Chr1(GRCh37):g.13450683G>C 154 154 NM_001291380.1:c.154C>G p.Leu52Val p.Leu52Val 2 -134 5' 90.6189 10.0684 0.977613 5.82633 90.6189 10.0684 0.977613 5.82633 0 transversion C G C>G 0.000 1.013 L Leu CTG 0.404 V Val GTG 0.468 52 12 8 Frog 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 235.27 0.00 Tolerated 0.28 II.53 251 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon2:c.C154G:p.L52V PRAMEF13:uc010obi.1:exon2:c.C154G:p.L52V . . . 0.30985916 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 142.0 . . . . . . . . . . -0.2597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.31 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . V.63 . ENST00000376132 I.27 I.27 . 0.090000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.987 0.987000 . . 0.090000 . . 1.0E-251 . . . . . . . . . 0.987 . . rs4083405 rs4083405 rs4083405 rs4083405 1 1538 10 1/0 0,230,255 +. 1 13450683 G C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13450683 13450683 Chr1(GRCh37):g.13450683G>C 154 154 NM_001024661.2:c.154C>G p.Leu52Val p.Leu52Val 2 -134 5' 90.6189 10.0684 0.977613 5.82633 90.6189 10.0684 0.977613 5.82633 0 transversion C G C>G 0.000 1.013 L Leu CTG 0.404 V Val GTG 0.468 52 12 8 Frog 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 235.27 0.00 Tolerated 0.28 II.53 251 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon2:c.C154G:p.L52V PRAMEF13:uc010obi.1:exon2:c.C154G:p.L52V . . . 0.30985916 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 142.0 . . . . . . . . . . -0.2597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.31 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . V.63 . ENST00000376132 I.27 I.27 . 0.090000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.987 0.987000 . . 0.090000 . . 1.0E-251 . . . . . . . . . 0.987 . . rs4083405 rs4083405 rs4083405 rs4083405 1 1538 10 1/0 0,230,255 +rs879393168 (chr1:13450798 T/C) 1 13450798 T C Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +rs879393168 1 13450798 T C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13450798 13450798 Chr1(GRCh37):g.13450798T>C 39 39 NM_001024661.2:c.39A>G p.Ala13= p.Ala13Ala 2 64 3' 82.1008 7.55647 0.637891 6.66034 82.1008 7.55647 0.637891 6.94905 0 rs879393168 no no 0 T 0.000000 0 transition A G A>G 0.000 -1.005 A Ala GCA 0.226 A Ala GCG 0.107 13 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon2:c.A39G:p.A13A PRAMEF13:uc010obi.1:exon2:c.A39G:p.A13A . . . 0.43055555 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.7505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.33 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063756 rs1063756 rs1063756 rs1063756 1 1538 10 1/0 0,255,255 +rs769239552 1 13474849 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13474849 13474849 Chr1(GRCh37):g.13474849G>A 1280 1280 NM_001099790.2:c.1280C>T p.Ser427Leu p.Ser427Leu 3 414 3' 87.5737 XI.65 0.985334 10.1805 87.5737 XI.65 0.985334 10.1805 0 rs769239552 yes no Frequency 1 G 0.000000 0 0.000510 0.000821 0.000336 0.000000 0.001630 0.000893 0.000322 0.000146 0.000000 0.001630 61 7 7 0 18 13 14 2 0 119652 8530 20830 4408 11040 14562 43506 13652 3124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 7 7 0 18 13 14 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3801556 Breast 0.000819 2443 transition C T C>T 0.000 -5.444 S Ser TCG 0.056 L Leu TTG 0.127 427 5 2 Mouse -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 209.54 94.04 Tolerated 0.19 III.35 255 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon3:c.C1280T:p.S427L PRAMEF19:uc009vnu.1:exon3:c.C1280T:p.S427L PRAMEF19:NM_001099790:exon3:c.C1280T:p.S427L . . 0.4117647 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 68.0 . . . . . . . . . . -2.5637 . . . . . . . . 2.615e-04 . . . 0.0040 0.0033 0.0030 0.0160 0 0 0 0.0094 0.0049 0.0053 0.0036 0.0175 0 0 0 0.0097 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.23 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.39 rs769239552 . . . . . . ID\x3dCOSM3801556\x3bOCCURENCE\x3d2(breast) . . . . . 0.3219 . ENST00000376126 I.39 -2.77 . 0.320000 Q5VWM3 . . . . . . . . . 0.0006 0.0004 0.0003 0 0.0012 0.0002 0.0003 0 0.0009 0.0026 0.0027 0 0 0.0305 0 0.0017 0 . . . . -5.806 -5.806000 . . 0.320000 . . 1.0E-255 . . . . . . . . . -5.806 . . rs12123403 rs12123403 rs12123403 rs12123403 1 1538 10 1/0 0,255,255 +rs759667351 1 13474980 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution synonymous exon GRCh37 13474980 13474980 Chr1(GRCh37):g.13474980G>A 1149 1149 NM_001099790.2:c.1149C>T p.Cys383= p.Cys383Cys 3 283 3' 87.5737 XI.65 0.985334 10.1805 87.5737 XI.65 0.985334 10.1805 0 rs759667351 yes no Frequency 1 G 0.000000 0 0.000213 0.000131 0.000000 0.000000 0.000267 0.000000 0.000065 0.001523 0.000471 0.001523 58 3 0 0 5 0 8 39 3 272736 22934 34376 10044 18760 30730 123912 25604 6376 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 56 3 0 0 5 0 8 37 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 1.255 C Cys TGC 0.552 C Cys TGT 0.448 383 203 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon3:c.C1149T:p.C383C PRAMEF19:uc009vnu.1:exon3:c.C1149T:p.C383C PRAMEF19:NM_001099790:exon3:c.C1149T:p.C383C . . 0.16806723 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . 0.0375 . . . . . . . . 3.927e-04 . . . 0.0003 0.0003 0 0.0005 0.0016 0.0001 0.0014 0.0004 0.0004 0.0003 0 0.0003 0.0015 0.0002 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.28 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs759667351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.622e-05 0 0 0 0.0009 9.089e-06 0.0002 0 0.0004 0.0013 0 0 0.0033 0.0058 0.0005 0.0021 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs12123444 rs12123444 rs12123444 rs12123444 1 1538 10 1/0 0,225,255 +. 1 13476659 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13476659 13476659 Chr1(GRCh37):g.13476659C>T 478 478 NM_001099790.2:c.478G>A p.Val160Met p.Val160Met 2 191 3' 87.8221 7.55224 0.855017 6.54042 87.8221 7.55224 0.855017 6.54042 0 transition G A G>A 0.000 -1.247 V Val GTG 0.468 M Met ATG 1.000 160 5 1 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 244.02 0.00 Tolerated 0.28 III.35 217 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon2:c.G478A:p.V160M PRAMEF19:uc009vnu.1:exon2:c.G478A:p.V160M PRAMEF19:NM_001099790:exon2:c.G478A:p.V160M . . 0.20930232 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 43.0 . . . . . . . . . . -1.7314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.31 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.17 . . . . . . . . . . . . . III.37 . ENST00000376126 I.66 -3.32 . 0.160000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.277 -1.277000 . . 0.160000 . . 1.0E-217 . . . . . . . . . -1.277 . . rs4391660 rs4391660 rs4391660 rs4391660 1 1538 10 1/0 0,255,255 +. 1 13476661 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13476661 13476661 Chr1(GRCh37):g.13476661G>A 476 476 NM_001099790.2:c.476C>T p.Ser159Phe p.Ser159Phe 2 189 3' 87.8221 7.55224 0.855017 6.54042 87.8221 7.55224 0.855017 6.54042 0 transition C T C>T 0.000 -0.198 S Ser TCC 0.220 F Phe TTC 0.546 159 5 2 Sheep -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C0 242.22 65.24 Tolerated 0.27 III.35 212 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon2:c.C476T:p.S159F PRAMEF19:uc009vnu.1:exon2:c.C476T:p.S159F PRAMEF19:NM_001099790:exon2:c.C476T:p.S159F . . 0.19512194 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 41.0 . . . . . . . . . . -1.2820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.32 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.13 . . . . . . . . . . . . . II.09 . ENST00000376126 I.58 -0.676 . 0.290000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.189 -0.189000 . . 0.290000 . . 1.0E-212 . . . . . . . . . -0.189 . . rs4471273 rs4471273 rs4471273 rs4471273 1 1538 10 1/0 0,255,255 +. 1 13476775 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13476775 13476775 Chr1(GRCh37):g.13476775G>A 362 362 NM_001099790.2:c.362C>T p.Pro121Leu p.Pro121Leu 2 75 3' 87.8221 7.55224 0.855017 6.54042 87.8221 7.55224 0.855017 6.57539 0 transition C T C>T 0.000 -0.198 P Pro CCC 0.328 L Leu CTC 0.197 121 5 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 255.16 22.20 Tolerated 0.59 III.35 221 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon2:c.C362T:p.P121L PRAMEF19:uc009vnu.1:exon2:c.C362T:p.P121L PRAMEF19:NM_001099790:exon2:c.C362T:p.P121L . . 0.2173913 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 69.0 . . . . . . . . . . -1.2087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.32 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . IV.87 . ENST00000376126 I.66 -0.561 . 0.380000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.156 -0.156000 . . 0.380000 . . 1.0E-221 . . . . . . . . . -0.156 . . rs3856321 rs3856321 rs3856321 rs3856321 1 1538 10 1/0 0,252,255 +. 1 13476777 C A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13476777 13476777 Chr1(GRCh37):g.13476777C>A 360 360 NM_001099790.2:c.360G>T p.Arg120Ser p.Arg120Ser 2 73 3' 87.8221 7.55224 0.855017 6.54042 87.8221 7.55224 0.855017 VI.26 0 transversion G T G>T 0.000 0.205 R Arg AGG 0.207 S Ser AGT 0.149 120 5 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 257.76 0.00 Tolerated 0.69 III.35 221 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon2:c.G360T:p.R120S PRAMEF19:uc009vnu.1:exon2:c.G360T:p.R120S PRAMEF19:NM_001099790:exon2:c.G360T:p.R120S . . 0.2173913 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 69.0 . . . . . . . . . . -1.1941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.37 . . . . . . . . . . . . . IV.18 . ENST00000376126 I.66 0.611 . 0.800000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.196 0.196000 . . 0.800000 . . 1.0E-221 . . . . . . . . . 0.196 . . . . . . 1 1538 10 1/0 0,252,255 +. 1 13477402 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13477402 13477402 Chr1(GRCh37):g.13477402C>T 121 121 NM_001099790.2:c.121G>A p.Val41Met p.Val41Met 1 -167 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM6401494 Thyroid 0.002677 747 transition G A G>A 0.000 -1.651 V Val GTG 0.468 M Met ATG 1.000 41 5 1 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 99.57 0.00 Tolerated 0.22 III.33 205 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon1:c.G121A:p.V41M PRAMEF19:uc009vnu.1:exon1:c.G121A:p.V41M PRAMEF19:NM_001099790:exon1:c.G121A:p.V41M . . 0.17460318 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 63.0 . . . . . . . . . . -2.0698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.27 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . IV.71 . ENST00000376126 I.67 -3.34 . 0.780000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.691 -1.691000 . . 0.780000 . . 1.0E-205 . . . . . . . . . -1.691 . . rs4026250 rs4026250 rs4026250 rs4026250 1 1538 10 1/0 0,253,255 +rs4384236 1 13477410 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13477410 13477410 Chr1(GRCh37):g.13477410C>G 113 113 NM_001099790.2:c.113G>C p.Arg38Pro p.Arg38Pro 1 -175 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs4384236 no no 0 C 0.000000 0 COSM6369614 Thyroid 0.001339 747 transversion G C G>C 0.000 -3.911 R Arg CGA 0.110 P Pro CCA 0.274 38 5 1 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 138.15 0.00 Tolerated 0.38 III.33 255 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon1:c.G113C:p.R38P PRAMEF19:uc009vnu.1:exon1:c.G113C:p.R38P PRAMEF19:NM_001099790:exon1:c.G113C:p.R38P . . 0.703125 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . -3.0292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.27 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 rs4384236 . . . . . . . . . . . . V.96 . ENST00000376126 I.67 -3.34 . 1.000000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -3.926 -3.926000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -3.926 . . rs4384236 rs4384236 rs4384236 rs4384236 1 1538 10 1/0 0,255,255 +. 1 13607878 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13607878 13607878 Chr1(GRCh37):g.13607878C>G -130356 -130356 NM_001099790.2:c.-130356G>C p.? p.? 1 -130643 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion G C G>C 0.000 0.205 255 PASS . . . . . . . . . . . . PRAMEF8:uc001auy.2:exon4:c.G1314C:p.K438N . . . 0.9310345 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 29.0 . . . . . . . . . . -0.1641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.5 0.24 182 ENSG00000204485 PRAMEF8 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9328936 rs9328936 rs9328936 rs9328936 1 1538 10 1/0 0,255,255 +. (chr1:13607878 C/G) 1 13607878 C G Transcript NM_001012277.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF7 +. (chr1:13607878 C/G) 1 13607878 C G Transcript NM_001012276.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF8 +. 1 13633060 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13633060 13633060 Chr1(GRCh37):g.13633060G>A -155538 -155538 NM_001099790.2:c.-155538C>T p.? p.? 1 -155825 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Acceptor Weakly Activated 13633049 2.08974 6.8e-05 69.357 2.05943 0.000193 73.4589 transition C T C>T 0.020 0.770 255 PASS . . . . . . . . . . . . . UNKNOWN . . 0.37142858 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 35.0 . . . . . . . . . . -0.1431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . ncRNA_exonic intergenic exonic . . . @ . . . . . . ENSG00000224581 . . . dist\x3d21510\x3bdist\x3d8913 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13644854 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13644854 13644854 Chr1(GRCh37):g.13644854C>G -167332 -167332 NM_001099790.2:c.-167332G>C p.? p.? 1 -167619 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Acceptor Strongly Activated 13644856 0.356725 0.080124 77.4141 1.30937 0.204471 77.4141 transversion G C G>C 0.004 1.013 224 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.C55G:p.L19V PRAMEF9:uc001ava.1:exon2:c.C55G:p.L19V . . . 0.22580644 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.429 . @ . . . . . 1 0.616 . . 62.0 . . . . . . . . . . -0.4788 -0.735 -0.479 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.203 @ . . . . . . ENSG00000157358 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.340 . . . . T 0.023 0.001 . . 37 . 0.285 . . 0.047 . . . 0.881 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.589 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.574 . . . . . 0.182 . 0.135 . HET 0.04 . . . . . . . . . . . . . 5.927 . . I.23 I.23 . 0.090000 . . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.999 0.999000 . . 0.090000 . . 1.0E-224 0.001 0.137 . 0.246 0.218 . 0.092 . 0.276 0.999 0.437 . . . . . 1 1538 10 1/0 0,255,255 +. 1 13644871 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13644871 13644871 Chr1(GRCh37):g.13644871T>C -167349 -167349 NM_001099790.2:c.-167349A>G p.? p.? 1 -167636 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Acceptor Strongly Activated 13644856 0.356725 0.080124 77.4141 0.505331 0.118969 77.4141 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.T72C:p.A24A PRAMEF9:uc001ava.1:exon2:c.T72C:p.A24A . . . 0.4090909 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.4974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.2 182 ENSG00000157358 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2933094 rs2933094 rs2933094 rs2933094 1 1538 10 1/0 0,255,255 +. 1 13644947 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13644947 13644947 Chr1(GRCh37):g.13644947C>T -167425 -167425 NM_001099790.2:c.-167425G>A p.? p.? 1 -167712 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.000 -1.893 214 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.C148T:p.R50C PRAMEF9:uc001ava.1:exon2:c.C148T:p.R50C . . . 0.1971831 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.175 . @ . . . . . 1 0.053 . . 142.0 . . . . . . . . . . -1.3640 -1.598 -1.364 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.061 @ . . . . . . ENSG00000157358 PRAMEF9 . . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.114 . . . . T 0.028 0.002 . . 37 . 0.105 . . 0.241 . . . 0.163 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.491 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.289 . . . . . 0.235 . 0.241 . HET 0.01 . . . . . . . . . . . . . VI.95 . . I.23 -2.46 . 0.060000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.855 -1.855000 . . 0.060000 . . 1.0E-214 0.000 0.063 . 0.043 0.002 . 0.088 . 0.053 -1.855 0.437 . . . . . 1 1538 10 1/0 0,220,255 +. 1 13644973 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13644973 13644973 Chr1(GRCh37):g.13644973G>A -167451 -167451 NM_001099790.2:c.-167451C>T p.? p.? 1 -167738 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition C T C>T 0.087 1.013 196 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.G174A:p.V58V PRAMEF9:uc001ava.1:exon2:c.G174A:p.V58V . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.0094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.18 0.21 182 ENSG00000157358 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930320\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,218,255 +. 1 13645034 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645034 13645034 Chr1(GRCh37):g.13645034G>A -167512 -167512 NM_001099790.2:c.-167512C>T p.? p.? 1 -167799 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Donor Weakly Activated 13645036 56.6616 0.867155 0.000277 61.1626 transition C T C>T 0.000 -2.458 240 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.G235A:p.A79T PRAMEF9:uc001ava.1:exon2:c.G235A:p.A79T . . . 0.27380952 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.000 . . 168.0 . . . . . . . . . . -1.8536 -1.937 -1.854 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.061 @ . . . 0.19 0.17 182 ENSG00000157358 PRAMEF9 . . . . 0.000 0.059 . . . . . . . Uncertain_significance . 0 . 0.046 . . . . T 0.003 0.001 . . 37 . 0.020 . . 0.270 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.010 . . . . . 0.098 . 0.083 . HET 1 . . . . . . . . . . . . . IV.19 . . I.23 -2.46 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.592 -2.592000 . . 1.000000 . . 1.0E-240 0.000 0.063 . 0.111 0.002 . 0.104 . 0.044 -2.592 -0.938 . . . rs75875937 rs75875937 1 1538 10 1/0 0,220,255 +. 1 13645052 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645052 13645052 Chr1(GRCh37):g.13645052G>A -167530 -167530 NM_001099790.2:c.-167530C>T p.? p.? 1 -167817 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition C T C>T 0.000 0.044 239 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.G253A:p.D85N PRAMEF9:uc001ava.1:exon2:c.G253A:p.D85N . . . 0.27152318 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.430 . @ . . . . . 1 0.253 . . 151.0 . . . . . . . . . . -0.9506 -1.185 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.059 . . exonic exonic exonic . . 0.147 @ . . . 0.25 0.21 182 ENSG00000157358 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.125 . . . . T 0.025 0.002 . . 37 . 0.126 . . 0.169 . . . 0.790 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.710 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.682 . . . . . 0.133 . 0.051 . HET 0.04 . . . . . . . . . . . . . IV.67 . . I.23 0.239 . 0.020000 . . . . . . 0.033 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.078 0.078000 . . 0.020000 . . 1.0E-239 0.290 0.250 . 0.130 0.003 . 0.209 . 0.040 0.078 -1.353 . . . rs78478513 rs78478513 1 1538 10 1/0 0,224,255 +. 1 13645060 T G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645060 13645060 Chr1(GRCh37):g.13645060T>G -167538 -167538 NM_001099790.2:c.-167538A>C p.? p.? 1 -167825 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.008 -0.037 209 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.T261G:p.L87L PRAMEF9:uc001ava.1:exon2:c.T261G:p.L87L . . . 0.18367347 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . . . . . . . -0.3641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.21 182 ENSG00000157358 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,217,255 +. 1 13645078 A C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645078 13645078 Chr1(GRCh37):g.13645078A>C -167556 -167556 NM_001099790.2:c.-167556T>G p.? p.? 1 -167843 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 New Donor Site 13645079 2.63157 0.028857 63.3317 transversion T G T>G 0.000 -0.844 255 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.A279C:p.Q93H PRAMEF9:uc001ava.1:exon2:c.A279C:p.Q93H . . . 0.42718446 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.108 . . 103.0 . . . . . . . . . . -1.2857 -1.539 -1.286 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.171 . . exonic exonic exonic . . 0.093 @ . . . 0.21 0.2 182 ENSG00000157358 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.168 . . . . T 0.010 0.001 . . 37 . 0.241 . . 0.215 . . . 0.501 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.734 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.286 . . . . . 0.048 . 0.112 . HET 0 . . . . . . . ID\x3dCOSM1599992\x3bOCCURENCE\x3d3(central_nervous_system) . . . . . II.72 . . I.23 -1.12 . 0.070000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.860 -0.860000 . . 0.070000 . . 1.0E-255 0.001 0.137 . 0.100 0.001 . 0.134 . 0.007 -0.860 -1.022 . . . rs77493267 rs77493267 1 1538 10 1/0 0,255,255 +. 1 13645085 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645085 13645085 Chr1(GRCh37):g.13645085C>T -167563 -167563 NM_001099790.2:c.-167563G>A p.? p.? 1 -167850 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.360 245 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.C286T:p.R96C PRAMEF9:uc001ava.1:exon2:c.C286T:p.R96C . . . 0.2890625 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.214 . @ . . . . . 1 0.540 . . 128.0 . . . . . . . . . . -0.8943 -1.150 -0.894 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.050 . . exonic exonic exonic . . 0.091 @ . . . 0.13 0.16 182 ENSG00000157358 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.051 . . . . T 0.017 0.001 . . 37 . 0.114 . . 0.358 . . . 0.507 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.408 . . . . . 0.101 . 0.219 . HET 0.01 . . . . . . . . . . . . . IV.27 . . I.23 -1.16 . 0.140000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.359 -0.359000 . . 0.140000 . . 1.0E-245 0.002 0.151 . 0.104 0.004 . 0.103 . 0.038 -0.359 0.437 . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,234,255 +. 1 13645102 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645102 13645102 Chr1(GRCh37):g.13645102C>G -167580 -167580 NM_001099790.2:c.-167580G>C p.? p.? 1 -167867 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.3508772 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . . . . . . . . . -0.3830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.1 0.1 182 ENSG00000157358 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,246,255 +rs200459682 1 13669206 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13669206 13669206 Chr1(GRCh37):g.13669206T>C -191684 -191684 NM_001099790.2:c.-191684A>G p.? p.? 1 -191971 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs200459682 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000800 0.000000 0.002000 0.000000 0.002900 0.000203 0.000339 0.000158 0.000000 0.000523 0.000227 0.000210 0.000000 0.000174 0.000523 48 6 5 0 7 6 23 0 1 236840 17698 31634 9410 13374 26384 109518 23084 5738 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 6 5 0 7 6 23 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.756 -1.167 232 PASS . . . . . 0.0008 0.001 0.0029 0.002 . . . . . . . 0.24817519 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.001 . . 137.0 . . . . . . . . . . -1.8694 -1.839 -1.869 c . . . . . 2.328e-04 . . . 0.0007 0.0004 0.0007 0.0032 0 8.869e-05 0 0.0001 0.0009 0.0005 0.0008 0.0024 0.0003 0.0004 0 0.0001 nonsynonymous_SNV . nonsynonymous_SNV 0.089 . . exonic intergenic exonic . . 0.063 0.0010 . . . 0.36 0.29 182 ENSG00000204481 . . . dist\x3d20218\x3bdist\x3d25683 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.061 . . . . T 0.030 0.002 . . 37 . 0.027 . . 0.413 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.010 . . . . . 0.236 . 0.044 . HET 1 rs200459682 . . . . . . . . . . . . VI.87 . . I.69 -2.31 . 1.000000 Q5SWL7 . . . . . 0.004 . . . 0.0003 0.0002 0.0001 0 0.0006 0 0.0002 0.0002 0.0002 0.0005 0.0002 0.0013 0 0 0 0.0002 0 . . 0.133 . -1.275 -1.275000 . . 1.000000 . . 1.0E-232 0.018 0.193 . 0.117 0.004 . 0.059 . 0.039 -1.275 -1.053 . rs3103691 rs3103691 rs3103691 rs200459682 1 1538 10 1/0 0,225,255 +rs563765859 1 13669402 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13669402 13669402 Chr1(GRCh37):g.13669402T>C -191880 -191880 NM_001099790.2:c.-191880A>G p.? p.? 1 -192167 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs563765859 yes no Frequency/1000G 2 T 0.000000 0 0.663538 0.653600 0.694300 0.700400 0.621300 0.647000 0.000073 0.000177 0.000000 0.000000 0.000167 0.000163 0.000050 0.000000 0.000000 0.000177 4 1 0 0 1 1 1 0 0 55034 5644 11088 1312 5998 6128 20098 3094 1672 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.570 255 PASS . . . . . 0.65 0.66 0.65 0.7 0.62 0.69 . . . . . 0.45945945 . . @ 51 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.017 . . 111.0 . . . . . . . . . . -1.6649 -1.780 -1.665 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.008 . . exonic intergenic exonic . . 0.045 0.3365 . . . 0.2 0.25 182 ENSG00000204481 . . . dist\x3d20414\x3bdist\x3d25487 . 0.000 0.035 . . . . . . . Benign . 0 . 0.134 . . . . . . . . . 37 . 0.007 . . 0.459 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.216 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.236 . . . . . 0.012 . 0.026 . HET 0.16 rs563765859 . . . . . . . . . . . . 0.8907 . . I.69 -3.38 . 0.100000 Q5SWL7 . . . . . 0.009 . . . 0.0002 8.09e-05 0 0 0.0002 0 5.492e-05 0 0.0002 0 0 0 0 0 0 0 0 . . 0.133 . -1.705 -1.705000 . . 0.100000 . . 1.0E-255 0.012 0.185 . 0.161 0.002 . 0.035 . 0.003 -1.705 -2.020 . . . . . 1 1538 10 1/0 0,255,255 +rs531415458 1 13669403 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13669403 13669403 Chr1(GRCh37):g.13669403G>A -191881 -191881 NM_001099790.2:c.-191881C>T p.? p.? 1 -192168 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs531415458 yes no Frequency/1000G 2 G 0.000000 0 0.663538 0.653600 0.694300 0.700400 0.621300 0.647000 0.000061 0.000207 0.000000 0.000000 0.000000 0.000164 0.000055 0.000000 0.000000 0.000207 3 1 0 0 0 1 1 0 0 49198 4826 10716 1272 5914 6098 18100 828 1444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes transition C T C>T 0.000 -0.117 255 PASS . . . . . 0.65 0.66 0.65 0.7 0.62 0.69 . . . . . 0.4587156 . . @ 50 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.1464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.3365 . . . . . . ENSG00000204481 . . . dist\x3d20415\x3bdist\x3d25486 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs531415458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.098e-05 0 0 0 0 5.525e-05 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs544826520 1 13669406 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13669406 13669406 Chr1(GRCh37):g.13669406T>C -191884 -191884 NM_001099790.2:c.-191884A>G p.? p.? 1 -192171 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs544826520 yes no Frequency/1000G 2 T 0.000000 0 0.663538 0.653600 0.694300 0.700400 0.621300 0.647000 0.000062 0.000209 0.000000 0.000000 0.000000 0.000166 0.000056 0.000000 0.000000 0.000209 3 1 0 0 0 1 1 0 0 48576 4790 10562 1248 5826 6008 17924 802 1416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transition A G A>G 0.000 -3.507 255 PASS . . . . . 0.65 0.66 0.65 0.7 0.62 0.69 . . . . . 0.45535713 . . @ 51 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . -0.8017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.3365 . . . 0.25 0.29 182 ENSG00000204481 . . . dist\x3d20418\x3bdist\x3d25483 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs544826520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.176e-05 0 0 0 0 5.579e-05 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063786 rs1063786 rs1063786 rs1063786 1 1538 10 1/0 0,255,255 +. 1 13670053 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670053 13670053 Chr1(GRCh37):g.13670053G>A -192531 -192531 NM_001099790.2:c.-192531C>T p.? p.? 1 -192818 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition C T C>T 0.000 -0.360 254 PASS . . . . . . . . . . . . . . . . 0.3243243 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.5002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.32 0.21 182 ENSG00000204481 . . . dist\x3d21065\x3bdist\x3d24836 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . rs71183795 rs71183795 rs71183795 1 1538 10 1/0 0,255,255 +. 1 13670488 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670488 13670488 Chr1(GRCh37):g.13670488T>C -192966 -192966 NM_001099790.2:c.-192966A>G p.? p.? 1 -193253 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Acceptor Strongly Activated 13670470 0.618115 0.000318 68.4311 0.860053 0.00041 68.4311 transition A G A>G 0.004 1.093 255 PASS . . . . . . . . . . . ENSG00000204481:ENST00000334600:exon3:c.A793G:p.R265G . . . . 0.57798165 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.148 . . 109.0 . . . . . . . . . . -0.5871 -0.778 -0.587 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.152 . . exonic intergenic exonic . . 0.232 @ . . . 0.36 0.23 182 ENSG00000204481 . . . dist\x3d21500\x3bdist\x3d24401 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.020 . . . . T 0.004 0.001 . . 37 . 0.197 . . 0.308 . . . . 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.729 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.518 . . . . . 0.159 . 0.207 . HET 0.05 . . . . . . . . . . . . . V.85 . ENST00000334600 I.69 I.69 . 0.010000 . . . . . . 0.023 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.029 1.029000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.177 0.006 . 0.077 . 0.267 1.029 0.486 . rs61778603 rs61778603 rs61778603 rs61778603 1 1538 10 1/0 0,255,255 +. 1 13670544 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670544 13670544 Chr1(GRCh37):g.13670544A>G -193022 -193022 NM_001099790.2:c.-193022T>C p.? p.? 1 -193309 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Donor Strongly Activated 13670544 0.013712 72.1736 1.22129 0.068517 71.4776 transition T C T>C 0.000 -0.763 255 PASS . . . . . . . . . . . ENSG00000204481:ENST00000334600:exon3:c.T737C:p.M246T . . . . 0.58278143 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.012 . . 151.0 . . . . . . . . . . -1.2461 -1.459 -1.246 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.139 . . exonic intergenic exonic . . 0.121 @ . . . 0.34 0.2 182 ENSG00000204481 . . . dist\x3d21556\x3bdist\x3d24345 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.050 . . . . T 0.002 0.001 . . 37 . 0.088 . . 0.355 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.081 . . . . . 0.098 . 0.048 . HET 0.41 . . . . . . . . . . . . . 4.182 . ENST00000334600 0.843 -0.291 . 0.400000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.771 -0.771000 . . 0.400000 . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.064 . 0.031 -0.771 -1.083 . . . rs78380763 rs78380763 1 1538 10 1/0 0,244,250 +. 1 13670578 G C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670578 13670578 Chr1(GRCh37):g.13670578G>C -193056 -193056 NM_001099790.2:c.-193056C>G p.? p.? 1 -193343 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion C G C>G 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.5986394 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.205 . @ . . . . . 1 0.237 . . 147.0 . . . . . . . . . . -0.9104 -1.016 -0.910 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.215 . . exonic intergenic exonic . . 0.170 @ . . . 0.39 0.33 182 ENSG00000204481 . . . dist\x3d21590\x3bdist\x3d24311 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . T 0.029 0.002 . . 37 . 0.235 . . 0.232 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.673 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 1 0.465 . . . . . 0.138 . 0.175 . HET 0 . . . . . . . . . . . . . 5.0611 . . I.69 0.672 . 0.110000 Q5SWL7 . . . . . 0.041 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.238 0.238000 . . 0.110000 . . 1.0E-255 0.000 0.063 . 0.083 0.012 . 0.163 . 0.286 0.238 0.513 . . . rs75542004 rs75542004 1 1538 10 1/0 0,248,254 +. 1 13670583 T G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670583 13670583 Chr1(GRCh37):g.13670583T>G -193061 -193061 NM_001099790.2:c.-193061A>C p.? p.? 1 -193348 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion A C A>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.5586207 . . @ 81 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.228 . @ . . . . . 1 0.212 . . 145.0 . . . . . . . . . . -0.9390 -1.088 -0.939 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.011 . . exonic intergenic exonic . . 0.096 @ . . . 0.36 0.37 182 ENSG00000204481 . . . dist\x3d21595\x3bdist\x3d24306 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.110 . . . . T 0.032 0.002 . . 37 . 0.018 . . 0.438 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.867 . . 0 0 0 0 0 0 . 0.174 . . 0.239 . . . . . . 1 0.524 . . . . . 0.038 . 0.265 . HET 0.03 . . . . . . . . . . . . . 2.282 . . I.69 -1.02 . 0.010000 Q5SWL7 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.263 -0.263000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.074 0.023 . 0.085 . 0.287 -0.263 0.549 . . . rs75370450 rs75370450 1 1538 10 1/0 0,247,255 +. 1 13670643 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670643 13670643 Chr1(GRCh37):g.13670643C>T -193121 -193121 NM_001099790.2:c.-193121G>A p.? p.? 1 -193408 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5294118 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.107 . @ . . . . . 1 0.112 . . 119.0 . . . . . . . . . . -1.4465 -1.517 -1.446 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.010 . . exonic intergenic exonic . . . @ . . . 0.36 0.29 182 ENSG00000204481 . . . dist\x3d21655\x3bdist\x3d24246 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.314 . . . . T 0.295 0.012 . . 37 . 0.005 . . 0.464 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.063 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 1 0.066 . . . . . . . 0.188 . HET 0.56 . . . . . . . . . . . . . . . . . . . 0.600000 Q5SWL7 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.159 0.159000 . . 0.600000 . . 1.0E-255 0.000 0.063 . 0.043 0.007 . 0.026 . 0.068 0.159 0.488 . . . rs76564987 rs76564987 1 1538 10 1/0 0,255,255 +. 1 13670656 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670656 13670656 Chr1(GRCh37):g.13670656G>A -193134 -193134 NM_001099790.2:c.-193134C>T p.? p.? 1 -193421 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM5427090 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -0.198 173 PASS . . . . . . . . . . . . . . . . 0.39252338 . . @ 42 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.758 . @ . . . . . 0 0.339 . . 107.0 . . . . . . . . . . -0.4752 -0.899 -0.475 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . stopgain . . . exonic intergenic exonic . . 0.159 @ . . . 0.24 0.21 182 ENSG00000204481 . . . dist\x3d21668\x3bdist\x3d24233 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.127 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.248 . . . HET 0.02 . . . . . . . . . . . . . 7.1836 . . I.48 0.466 . 0.010000 . . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.204 -0.204000 . . 0.010000 . . 1.0E-173 0.004 0.165 . 0.114 0.002 . 0.136 . 0.079 -0.204 -1.046 . rs61778604 rs61778604 rs61778604 rs61778604 1 1538 10 1/0 0,255,255 +. 1 13670687 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670687 13670687 Chr1(GRCh37):g.13670687T>C -193165 -193165 NM_001099790.2:c.-193165A>G p.? p.? 1 -193452 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM5425002 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.35106382 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . -0.2643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.26 0.27 182 ENSG00000204481 . . . dist\x3d21699\x3bdist\x3d24202 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61778605 rs61778605 rs61778605 rs61778605 1 1538 10 1/0 0,251,255 +. 1 13670777 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670777 13670777 Chr1(GRCh37):g.13670777A>G -193255 -193255 NM_001099790.2:c.-193255T>C p.? p.? 1 -193542 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Donor Strongly Activated 13670775 1.29728 0.004605 60.3787 3.06578 0.006287 64.5067 transition T C T>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.3432836 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.3309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.42 0.34 182 ENSG00000204481 . . . dist\x3d21789\x3bdist\x3d24112 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1856642 rs1856642 rs61778606 rs61778606 1 1538 10 1/0 0,255,255 +. 1 13670869 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670869 13670869 Chr1(GRCh37):g.13670869A>G -193347 -193347 NM_001099790.2:c.-193347T>C p.? p.? 1 -193634 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM4908612 Haematopoietic and lymphoid tissue 0.000850 3530 transition T C T>C 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.44705883 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.118 . @ . . . . . 1 0.065 . . 85.0 . . . . . . . . . . -0.7161 -1.031 -0.716 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.155 . . exonic intergenic exonic . . 0.045 @ . . . 0.37 0.31 182 ENSG00000204481 . . . dist\x3d21881\x3bdist\x3d24020 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.009 . . . . T 0.054 0.003 . . 37 . 0.484 . . 0.472 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.813 . . 0 0 0 0 0 0 . 0.764 . . 0.717 . . . . . . 1 0.090 . . . . . 0.040 . 0.206 . HET 0.11 . . . . . . . . . . . . . II.02 . . I.69 -3.38 . 0.420000 Q5SWL7 . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.934 -0.934000 . . 0.420000 . . 1.0E-255 0.000 0.063 . 0.062 0.014 . 0.028 . 0.048 -0.934 0.517 . rs61778607 rs61778607 rs61778607 rs61778607 1 1538 10 1/0 0,255,255 +. 1 13670952 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670952 13670952 Chr1(GRCh37):g.13670952T>C -193430 -193430 NM_001099790.2:c.-193430A>G p.? p.? 1 -193717 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition A G A>G 0.000 -0.279 217 PASS . . . . . . . . . . . . . . . . 0.20634921 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.251 . . 63.0 . . . . . . . . . . -0.8459 -1.075 -0.846 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.182 . . exonic intergenic exonic . . 0.081 @ . . . . . . ENSG00000204481 . . . dist\x3d21964\x3bdist\x3d23937 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.025 . . . . T 0.044 0.002 . . 37 . 0.464 . . 0.258 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.759 . . 0 0 0 0 0 0 . 0.345 . . 0.352 . . . . . . 1 0.491 . . . . . 0.039 . 0.159 . HET 0.04 . . . . . . . . . . . . . II.11 . . I.69 -1.52 . 0.130000 Q5SWL7 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.360 -0.360000 . . 0.130000 . . 1.0E-217 0.000 0.063 . 0.062 0.001 . 0.089 . 0.287 -0.360 0.549 . . . . . 1 1538 10 1/0 0,255,255 +. 1 13670954 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670954 13670954 Chr1(GRCh37):g.13670954A>G -193432 -193432 NM_001099790.2:c.-193432T>C p.? p.? 1 -193719 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM6240047 Liver 0.000422 2371 transition T C T>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.42592594 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.5638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.13 0.19 182 ENSG00000204481 . . . dist\x3d21966\x3bdist\x3d23935 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063762 rs1063762 rs1063762 rs1063762 1 1538 10 1/0 0,255,255 +. 1 13670960 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670960 13670960 Chr1(GRCh37):g.13670960A>G -193438 -193438 NM_001099790.2:c.-193438T>C p.? p.? 1 -193725 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition T C T>C 0.000 -0.844 206 PASS . . . . . . . . . . . . . . . . 0.17741935 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.3301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . . . . ENSG00000204481 . . . dist\x3d21972\x3bdist\x3d23929 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 13670967 A T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670967 13670967 Chr1(GRCh37):g.13670967A>T -193445 -193445 NM_001099790.2:c.-193445T>A p.? p.? 1 -193732 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM3676765 Haematopoietic and lymphoid tissue 0.000283 3530 transversion T A T>A 0.024 1.093 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.951 . @ . . . . . 0 0.265 . . 56.0 . . . . . . . . . . -0.0602 -0.438 -0.060 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . stopgain . . . exonic intergenic exonic . . 0.232 @ . . . . . . ENSG00000204481 . . . dist\x3d21979\x3bdist\x3d23922 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.337 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.159 . . . LowAF 0 . . . . . . . . . . . . . V.85 . . I.69 I.69 . 1.000000 . . . . . . 0.082 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.029 1.029000 . . 1.000000 . . 1.0E-193 0.105 0.227 . 0.164 0.026 . 0.372 . 0.295 1.029 0.586 . . . . . 1 1538 10 1.I 0,0,0 +. 1 13671538 G C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13671538 13671538 Chr1(GRCh37):g.13671538G>C -194016 -194016 NM_001099790.2:c.-194016C>G p.? p.? 1 -194303 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion C G C>G 0.516 1.255 255 PASS . . . . . . . . . . . . . . . . 0.36645964 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.401 . @ . . . . . 1 0.737 . . 161.0 . . . . . . . . . . -0.1347 -0.392 -0.135 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.164 . . exonic intergenic exonic . . 0.232 @ . . . 0.36 0.31 182 ENSG00000204481 . . . dist\x3d22550\x3bdist\x3d23351 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.355 . . . . T 0.059 0.003 . . 37 . 0.330 . . 0.019 . . . . 0.202 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.563 . . 0 0 0 0 0 0 . 0.764 . . 0.710 . . . . . . 1 0.465 . . . . . 0.232 . 0.331 . HET 0.03 . . . . . . . . . . . . . VI.78 . . I.69 I.69 . 0.070000 Q5SWL7 . . . . . 0.092 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.250 1.250000 . . 0.070000 . . 1.0E-255 0.023 0.197 . 0.043 0.001 . 0.355 . 0.296 1.250 0.826 . rs4083405 rs4083405 rs4083405 rs4083405 1 1538 10 1/0 0,230,255 +. 1 13671653 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13671653 13671653 Chr1(GRCh37):g.13671653T>C -194131 -194131 NM_001099790.2:c.-194131A>G p.? p.? 1 -194418 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition A G A>G 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.44871795 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.7059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.42 0.35 182 ENSG00000204481 . . . dist\x3d22665\x3bdist\x3d23236 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063756 rs1063756 rs1063756 rs1063756 1 1538 10 1/0 0,255,255 +rs548583032 1 13695603 G C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13695603 13695603 Chr1(GRCh37):g.13695603G>C -218081 -218081 NM_001099790.2:c.-218081C>G p.? p.? 1 -218368 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs548583032 yes no Frequency/1000G 2 G 0.000000 0 0.990415 0.985600 0.994900 0.991100 0.989100 0.994200 0.001859 0.000000 0.000000 0.000000 0.000000 0.000000 0.002604 0.000000 0.000000 0.002604 1 0 0 0 0 0 1 0 0 538 22 50 2 2 38 384 30 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 108 Exomes COSM4142400 Thyroid 0.004016 747 transversion C G C>G 0.000 -0.117 241 PASS . . . . . 0.99 0.99 0.99 0.99 0.99 0.99 . PRAMEF19:uc009vny.1:exon3:c.C1362G:p.P454P PRAMEF19:NM_001099790:exon3:c.C1362G:p.P454P . . 0.2857143 . . @ 8 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.3200 . . . . . . . . 2.433e-03 . . . . 0 . . . 0 . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0096 . . . . . . ENSG00000204480 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs548583032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0019 0 0 0 0 0.0026 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13698238 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13698238 13698238 Chr1(GRCh37):g.13698238C>T -220716 -220716 NM_001099790.2:c.-220716G>A p.? p.? 1 -221003 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition G A G>A 0.000 -0.521 223 PASS . . . . . . . . . . . ENSG00000204480:ENST00000540591:exon1:c.G121A:p.V41M PRAMEF19:uc009vny.1:exon1:c.G121A:p.V41M . . . 0.22222222 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -1.7485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.5 182 ENSG00000204480 PRAMEF19 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . IV.43 . ENST00000540591 I.18 -1.72 . 0.820000 F5H544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.551 -0.551000 . . 0.820000 . . 1.0E-223 . . . . . . . . . -0.551 . . rs4026250 rs4026250 rs4026250 rs4026250 1 1538 10 1/0 0,251,255 +. 1 13698246 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13698246 13698246 Chr1(GRCh37):g.13698246C>G -220724 -220724 NM_001099790.2:c.-220724G>C p.? p.? 1 -221011 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion G C G>C 0.000 -0.521 255 PASS . . . . . . . . . . . ENSG00000204480:ENST00000540591:exon1:c.G113C:p.R38P PRAMEF19:uc009vny.1:exon1:c.G113C:p.R38P . . . 0.64102566 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 78.0 . . . . . . . . . . -2.5525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.47 182 ENSG00000204480 PRAMEF19 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.45 . . . . . . . . . . . . . III.54 . ENST00000540591 I.18 0.194 . 1.000000 F5H544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.597 -0.597000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.597 . . rs4384236 rs4384236 rs4384236 rs4384236 1 1538 10 1/0 0,255,255 +rs116813534 1 15905471 G T - AGMAT 18407 Agmatine ureohydrolase (agmatinase) NM_024758.4 -1 3154 1059 NP_079034.3 Q9BSE5 substitution missense exon GRCh37 15905471 15905471 Chr1(GRCh37):g.15905471G>T 603 603 NM_024758.4:c.603C>A p.His201Gln p.His201Gln 4 79 3' 84.1661 VI.35 0.277065 7.93854 84.1661 VI.35 0.277065 7.46292 0 Ureohydrolase Agmatinase-related rs116813534 yes no Frequency/1000G 2 G 0.000000 0 0.000534 0.000000 0.000145 0.002465 0.000000 0.000000 0.000837 0.000427 0.000155 0.002465 148 0 5 25 0 0 106 11 1 277082 24014 34418 10144 18868 30780 126612 25780 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 147 0 5 25 0 0 105 11 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.756 -0.440 H His CAC 0.587 Q Gln CAA 0.256 201 13 10 Zebrafish 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 119.23 0.00 Tolerated 0.37 II.86 255 PASS . . . . . . . . . . . ENSG00000116771:ENST00000375826:exon4:c.C603A:p.H201Q AGMAT:uc001awv.2:exon4:c.C603A:p.H201Q AGMAT:NM_024758:exon4:c.C603A:p.H201Q . . 0.4566929 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.632 . @ . . . . . 1 0.503 . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H201Q|AGMAT|mRNA|CODING|NM_024758|NM_024758.ex.4) . . . . . . . -0.0291 -0.326 -0.029 c . . . . . 5.683e-04 . . . 0 0.0005 8.672e-05 0 0.0005 0.0011 0 0 0 0.0005 8.933e-05 0 0.0006 0.0008 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.882 . . exonic exonic exonic . . 0.026 0.0068 . . . 0.32 0.28 182 ENSG00000116771 AGMAT AGMAT . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.895 0.261 . . 37 . 0.960 . . 0.949 . . . 0.961 0.506 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.853 . 0.961 . HET 0 rs116813534 . . . . . . . . . . . . 16.7644 . ENST00000375826 V.87 -5.21 . 0.000000 Q9BSE5 . . . . . 0.250 . . . 0 0.0005 0.0001 0.0024 0 0.0004 0.0009 0.0002 0 0 0.0005 0 0.0033 0 0.0006 0.0007 0 . . 0.051 . -1.114 -1.114000 . . 0.000000 . . 1.0E-255 0.102 0.226 . 0.312 0.994 . 0.061 . 0.016 -1.114 0.034 . . . rs116813534 rs116813534 1 1538 10 1/0 0,250,255 +rs202062551 1 16385245 G A - CLCNKB 2027 Chloride channel, voltage-sensitive Kb NM_000085.4 1 2626 2064 NP_000076.2 P51801 substitution downstream GRCh37 16385245 16385245 Chr1(GRCh37):g.16385245G>A *1834 *1834 NM_000085.4:c.*1834G>A p.? p.? 20 602023 1882 3' 85.9136 13.0624 0.952337 14.6799 85.9136 13.0624 0.952337 14.6799 0 rs202062551 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.015300 0.000000 0.004000 0.000000 0.006300 0.001134 0.003590 0.032253 0.000000 0.013915 0.006731 0.002195 0.007121 0.032253 1166 23 75 203 0 252 537 44 32 185070 20276 20894 6294 15180 18110 79780 20042 4494 0.000032 0.000000 0.000000 0.000000 0.000000 0.000110 0.000050 0.000000 0.000000 3 0 0 0 0 1 2 0 0 1160 23 75 203 0 250 533 44 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7932 3915 11847 48 5 53 0.00601504 0.00127551 0.00445378 0.00601504 0.00127551 0.00445378 14 transition G A G>A 0.000 -0.037 250 PASS . . . . . . 0.0038 . . 0.004 0.015 . . . . . 0.3046875 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . 0.0013 0.0045 0.006 0.0013 0.0045 0.006 . 0.5024 . . . . . . . . 5.446e-03 . . . 0.0005 0.0087 0.0060 0 0.0015 0.0114 0.0040 0.0180 0.0006 0.0085 0.0053 0 0.0023 0.0101 0.0130 0.0179 . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.13 0.27 182 ENSG00000185519 FAM131C FAM131C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs202062551 . . . . . . . . . . . . . . . . . . . . . . . 0.004454 . . . . . 0.0010 0.0064 0.0036 0.0319 0 0.0022 0.0062 0.0069 0.0139 0.0013 0.0057 0.0028 0.0404 0 0.0021 0.0094 0.0079 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.006 . . rs202062551 rs202062551 1 1538 10 1/0 0,235,255 +rs202062551 1 16385245 G A - FAM131C 26717 Family with sequence similarity 131, member C NM_182623.2 -1 1701 843 NP_872429.2 Q96AQ9 substitution intron GRCh37 16385245 16385245 Chr1(GRCh37):g.16385245G>A 563-33 563-33 NM_182623.2:c.563-33C>T p.? p.? 7 6 -33 3' 89.0735 12.0137 0.94747 XI.95 89.0735 12.0137 0.94747 XI.67 0 rs202062551 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.015300 0.000000 0.004000 0.000000 0.006300 0.001134 0.003590 0.032253 0.000000 0.013915 0.006731 0.002195 0.007121 0.032253 1166 23 75 203 0 252 537 44 32 185070 20276 20894 6294 15180 18110 79780 20042 4494 0.000032 0.000000 0.000000 0.000000 0.000000 0.000110 0.000050 0.000000 0.000000 3 0 0 0 0 1 2 0 0 1160 23 75 203 0 250 533 44 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7932 3915 11847 48 5 53 0.00601504 0.00127551 0.00445378 0.00601504 0.00127551 0.00445378 14 transition C T C>T 0.000 -0.037 250 PASS . . . . . . 0.0038 . . 0.004 0.015 . . . . . 0.3046875 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . 0.0013 0.0045 0.006 0.0013 0.0045 0.006 . 0.5024 . . . . . . . . 5.446e-03 . . . 0.0005 0.0087 0.0060 0 0.0015 0.0114 0.0040 0.0180 0.0006 0.0085 0.0053 0 0.0023 0.0101 0.0130 0.0179 . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.13 0.27 182 ENSG00000185519 FAM131C FAM131C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs202062551 . . . . . . . . . . . . . . . . . . . . . . . 0.004454 . . . . . 0.0010 0.0064 0.0036 0.0319 0 0.0022 0.0062 0.0069 0.0139 0.0013 0.0057 0.0028 0.0404 0 0.0021 0.0094 0.0079 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.006 . . rs202062551 rs202062551 1 1538 10 1/0 0,235,255 +. 1 16891534 A G - NBPF1 26088 Neuroblastoma breakpoint family, member 1 ENST00000430580.2 -1 5932 3420 ENSP00000474456 substitution intron GRCh37 16891534 16891534 Chr1(GRCh37):g.16891534A>G 3065-121 3065-121 ENST00000430580.2:c.3065-121T>C p.? p.? 28 27 610501 -121 3' 83.2605 8.73937 0.14414 3.35112 83.2605 8.73937 0.14414 3.35112 0 0.000899 0.000000 0.001217 0.000000 0.002681 0.000000 0.001173 0.000893 0.002119 0.002681 27 0 1 0 4 0 17 3 2 30038 8654 822 278 1492 0 14488 3360 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 0 1 0 4 0 17 3 2 0 0 0 0 0 0 0 0 0 RF 362 Genomes transition T C T>C 0.004 0.448 183 PASS . . . . . . . . . . . . . . . . 0.12048193 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||NBPF1|mRNA|CODING|NM_017940|) . . . . . . . -0.2704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000219481 NBPF1 NBPF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0009 0.0012 0 0.0027 0.0009 0.0012 0.0021 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs773459768 1 16974667 G A - MST1P2 7383 Macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 NR_027504.1 1 2636 0 substitution exon GRCh37 16974667 16974667 Chr1(GRCh37):g.16974667G>A 1127 1127 NR_027504.1:n.1127G>A 7 389 3' 71.6176 5.0427 0.044749 0 71.6176 5.0427 0.044749 0 0 rs773459768 no no 0 0.000000 0 0.000227 0.000000 0.000000 0.000000 0.000000 0.000000 0.000470 0.000000 0.000000 0.000470 7 0 0 0 0 0 7 0 0 30838 8728 834 302 1622 0 14882 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 113 Genomes transition G A G>A 1.000 3.272 178 PASS . . . . . . . . . . . . . . . . 0.108757064 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 708.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R376H|MST1P2|Non-coding_transcript|NON_CODING|NR_027504|NR_027504.ex.7) . . . . . . . 0.5932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000186301 MST1P2 MST1P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs773459768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,255 +. (chr1:16999389 G/A) 1 16999389 G A Not on a known gene +. (chr1:16999426 G/A) 1 16999426 G A Not on a known gene +. (chr1:16999457 G/A) 1 16999457 G A Not on a known gene +. (chr1:16999463 G/A) 1 16999463 G A Not on a known gene +. (chr1:16999764 A/G) 1 16999764 A G Not on a known gene +rs200396227 1 17060991 C T - FAM231A 49427 Family with sequence similarity 231 member A NM_001282321.1 -1 510 510 NP_001269250.1 P0DMU4 substitution upstream GRCh37 17060991 17060991 Chr1(GRCh37):g.17060991C>T -35 -35 NM_001282321.1:c.-35G>A p.? p.? 1 rs200396227 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.091 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15079366 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 126.0 . . . . . . . . . . -0.3208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.48 0.28 182 ENSG00000268991 . . . dist\x3d7141\x3bdist\x3d5777 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200396227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs3868836 rs3868836 rs3868836 rs200396227 1 1538 10 1/0 0,221,255 +rs200396227 1 17060991 C T - FAM231C 49508 Family with sequence similarity 231, member C NM_001310138.1 -1 655 510 NP_001297067.1 P0DMU5 substitution upstream GRCh37 17060991 17060991 Chr1(GRCh37):g.17060991C>T -35 -35 NM_001310138.1:c.-35G>A p.? p.? 1 rs200396227 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.091 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15079366 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 126.0 . . . . . . . . . . -0.3208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.48 0.28 182 ENSG00000268991 . . . dist\x3d7141\x3bdist\x3d5777 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200396227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs3868836 rs3868836 rs3868836 rs200396227 1 1538 10 1/0 0,221,255 +rs201318871 1 17061028 C T - FAM231A 49427 Family with sequence similarity 231 member A NM_001282321.1 -1 510 510 NP_001269250.1 P0DMU4 substitution upstream GRCh37 17061028 17061028 Chr1(GRCh37):g.17061028C>T -72 -72 NM_001282321.1:c.-72G>A p.? p.? 1 rs201318871 no no 0 0.000000 0 transition G A G>A 0.228 0.125 255 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . . . . . . . . . -0.2715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.5 0.23 182 ENSG00000268991 . . . dist\x3d7178\x3bdist\x3d5740 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201318871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1736723 rs1736723 rs1736723 rs1736723 1 1538 10 1/0 0,246,255 +rs201318871 1 17061028 C T - FAM231C 49508 Family with sequence similarity 231, member C NM_001310138.1 -1 655 510 NP_001297067.1 P0DMU5 substitution upstream GRCh37 17061028 17061028 Chr1(GRCh37):g.17061028C>T -72 -72 NM_001310138.1:c.-72G>A p.? p.? 1 rs201318871 no no 0 0.000000 0 transition G A G>A 0.228 0.125 255 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . . . . . . . . . -0.2715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.5 0.23 182 ENSG00000268991 . . . dist\x3d7178\x3bdist\x3d5740 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201318871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1736723 rs1736723 rs1736723 rs1736723 1 1538 10 1/0 0,246,255 +. 1 17061065 C T - FAM231A 49427 Family with sequence similarity 231 member A NM_001282321.1 -1 510 510 NP_001269250.1 P0DMU4 substitution upstream GRCh37 17061065 17061065 Chr1(GRCh37):g.17061065C>T -109 -109 NM_001282321.1:c.-109G>A p.? p.? 1 transition G A G>A 0.398 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.1141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.5 0.23 182 ENSG00000268991 . . . dist\x3d7215\x3bdist\x3d5703 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs2446540 rs2446540 rs2446540 rs2446540 1 1538 10 1/0 0,241,255 +. 1 17061065 C T - FAM231C 49508 Family with sequence similarity 231, member C NM_001310138.1 -1 655 510 NP_001297067.1 P0DMU5 substitution upstream GRCh37 17061065 17061065 Chr1(GRCh37):g.17061065C>T -109 -109 NM_001310138.1:c.-109G>A p.? p.? 1 transition G A G>A 0.398 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.1141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.5 0.23 182 ENSG00000268991 . . . dist\x3d7215\x3bdist\x3d5703 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs2446540 rs2446540 rs2446540 rs2446540 1 1538 10 1/0 0,241,255 +rs750402461 1 17084581 T C - MST1L 7390 Macrophage stimulating 1-like NM_001271733.1 -1 4668 2070 NP_001258662.1 substitution missense exon GRCh37 17084581 17084581 Chr1(GRCh37):g.17084581T>C 1517 1517 NM_001271733.1:c.1517A>G p.His506Arg p.His506Arg 12 3 3' 0 0 0.706502 0 0 0 0.694737 0 -0.0166525 rs750402461 yes no Frequency 1 0.000000 0 0.001195 0.000089 0.000302 0.001921 0.000380 0.000035 0.001277 0.004912 0.000658 0.004912 311 2 10 17 7 1 151 119 4 260324 22548 33074 8848 18402 28888 118258 24224 6082 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 311 2 10 17 7 1 151 119 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 1.981 H His CAT 0.413 R Arg CGT 0.082 506 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 208 PASS . . . . . . . . . . . . . MST1L:NM_001271733:exon12:c.A1517G:p.H506R . . 0.17794487 . . @ 71 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 399.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H506R|MST1L|mRNA|CODING|NM_001271733|NM_001271733.ex.12) . . . . . . . -0.4933 . . . . . . . . 3.547e-03 . . . 0.0001 0.0028 0.0022 0.0069 0.0112 0.0030 0.0063 0.0003 0 0.0030 0.0021 0.0054 0.0117 0.0029 0.0064 0.0003 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000186715 MST1L MST1L . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 rs750402461 . . . . . . . . . . . . IV.58 . . . . . 0.360000 . . . . . . . . . . 7.237e-05 0.0011 0.0003 0.0019 0.0004 0.0050 0.0012 0.0008 3.462e-05 0.0001 0.0015 0 0.0034 0.0006 0.0044 0.0019 0 . . . . 0.000 0.000000 . . 0.360000 . . 9.999999999999999E-209 . . . . . . . . . 0.000 . . . . . . 1 1538 10 1/0 0,173,255 +rs761687461 1 17086085 G C - MST1L 7390 Macrophage stimulating 1-like NM_001271733.1 -1 4668 2070 NP_001258662.1 substitution missense exon GRCh37 17086085 17086085 Chr1(GRCh37):g.17086085G>C 812 812 NM_001271733.1:c.812C>G p.Ala271Gly p.Ala271Gly 7 97 3' 71.6176 5.0427 0.044749 0 71.6176 5.0427 0.044749 0 0 Cryptic Donor Strongly Activated 17086085 0.001335 51.1922 2.50052 0.064551 64.5033 rs761687461 yes no Frequency 1 0.000000 0 0.000052 0.000000 0.000000 0.000000 0.000000 0.000000 0.000084 0.000201 0.000000 0.000201 7 0 0 0 0 0 5 2 0 135864 9558 20626 5362 11032 16252 59756 9944 3334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 132 Exomes transversion C G C>G 0.992 0.367 A Ala GCG 0.107 G Gly GGG 0.250 271 0 0 0 0 0.74 8.I 9 31 3 60 177 PASS . . . . . . . . . . . . MST1L:uc010ock.3:exon7:c.C812G:p.A271G MST1L:NM_001271733:exon7:c.C812G:p.A271G . . 0.10909091 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gGg|A271G|MST1L|mRNA|CODING|NM_001271733|NM_001271733.ex.7) . . . . . . . -0.0902 . . . . . . . . 1.926e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000186715 MST1L MST1L . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 1 rs761687461 . . . . . . . . . . . . IV.67 . . . . . 1.000000 Q2TV78-2 . . . . . . . . . 0 5.152e-05 0 0 0 0.0002 8.367e-05 0 0 . . . . . . . . . . . . -0.000 -0.000000 . . 1.000000 . . 1.0E-177 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,253,255 +rs199500293 (chr1:17197541 A/T) 1 17197541 A T Not on a known gene +rs377033452 (chr1:17197665 G/T) 1 17197665 G T Not on a known gene +rs373961830 1 17256615 C A - CROCC 21299 Ciliary rootlet coiled-coil, rootletin NM_014675.4 1 6656 6054 NP_055490.4 Q5TZA2 substitution splice site GRCh37 17256615 17256615 Chr1(GRCh37):g.17256615C>A 538-4 538-4 NM_014675.4:c.538-4C>A p.? p.? 5 4 615776 -4 3' 76.974 6.54402 0.901176 6.62701 76.974 7.41563 0.926251 7.31588 0.0536722 rs373961830 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002232 0.000329 0.000632 0.000000 0.000000 0.000606 0.002497 0.009550 0.002777 0.009550 528 7 19 0 0 16 263 207 16 236584 21260 30046 9434 16676 26400 105330 21676 5762 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000277 0.000000 3 0 0 0 0 0 0 3 0 522 7 19 0 0 16 263 201 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4386 12962 10 2 12 0.00116469 0.000455789 0.000924927 0.00116469 0.000455789 0.000924927 13 transversion C A C>A 0.378 0.528 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.5671642 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . INTRON(MODIFIER||||CROCC|mRNA|CODING|NM_014675|) 0.0005 0.0009 0.0012 0.0005 0.0009 0.0012 . I.50 . . . . . . . . 2.006e-03 . . . 0.0008 0.0025 0.0014 0 0.0180 0.0035 0.0031 0.0008 0.0010 0.0038 0.0016 0 0.0210 0.0052 0.0119 0.0007 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.69 0.46 182 ENSG00000058453 CROCC CROCC . . . . . . 142 0.00218542 64976 141 0.00235055 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373961830 . . . . . . . . . . . . . . . . . . . . 0 0 . 0.000925 . . . . III.25 0.0004 0.0021 0.0007 0 0 0.0091 0.0023 0.0023 0.0006 0.0002 0.0034 0 0 0 0.0120 0.0037 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs373961830 . 1 1538 10 1/0 0,255,255 +rs2781606 1 17271891 C T - CROCC 21299 Ciliary rootlet coiled-coil, rootletin NM_014675.4 1 6656 6054 NP_055490.4 Q5TZA2 substitution intron GRCh37 17271891 17271891 Chr1(GRCh37):g.17271891C>T 1992-66 1992-66 NM_014675.4:c.1992-66C>T p.? p.? 15 14 615776 -66 3' 83.1908 9.14861 0.692581 8.20478 83.1908 9.14861 0.692581 8.57537 0 rs2781606 no no 0 T 0.000000 0 0.004151 0.000928 0.004914 0.022556 0.000000 0.000000 0.006956 0.000000 0.007431 0.022556 125 8 4 6 0 0 100 0 7 30112 8624 814 266 1620 0 14376 3470 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 8 4 6 0 0 100 0 7 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition C T C>T 0.000 -1.247 183 PASS . . . . . . . . . . . . . . . . 0.119266056 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . INTRON(MODIFIER||||CROCC|mRNA|CODING|NM_014675|) . . . . . . . -0.4534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . @ . . . 0.24 0.09 182 ENSG00000058453 CROCC CROCC . uc001azu.2:c.-166C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2781606 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0042 0.0049 0.0226 0 0 0.0070 0.0074 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . 0.022 rs2781606 rs2781606 rs2781606 rs2781606 1 1538 10 1/0 0,224,255 +. 1 17316331 A G - ATP13A2 30213 ATPase type 13A2 NM_022089.3 -1 4040 3543 NP_071372.1 Q9NQ11 substitution intron GRCh37 17316331 17316331 Chr1(GRCh37):g.17316331A>G 2529+51 2529+51 NM_022089.3:c.2529+51T>C p.? p.? 22 22 610513 51 5' 84.5939 VIII.53 0.98118 X.73 84.5939 VIII.53 0.98118 X.23 0 transition T C T>C 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 120.0 . . . . . . . . . . 0.1017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000226526 ATP13A2 ATP13A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +rs191271197 1 18958078 C T - PAX7 8621 Paired box 7 NM_002584.2 1 2260 1563 NP_002575.1 substitution 5'UTR GRCh37 18958078 18958078 Chr1(GRCh37):g.18958078C>T -20 -20 NM_002584.2:c.-20C>T p.? p.? 1 167410 -105 5' 94.3644 X.71 0.996594 X.95 94.3644 X.71 0.996594 X.95 0 rs191271197 yes no Frequency/1000G 2 C 0.000000 0 0.004393 0.000000 0.003100 0.000000 0.017900 0.001400 0.007861 0.002030 0.003292 0.001750 0.000055 0.003143 0.011487 0.015692 0.007150 0.015692 2075 46 110 17 1 91 1383 383 44 263974 22660 33416 9714 18272 28952 120398 24408 6154 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000100 0.000410 0.000000 11 0 0 0 0 0 6 5 0 2053 46 110 17 1 91 1371 373 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8482 4389 12871 116 11 127 0.0134915 0.0025 0.00977073 0.0134915 0.0025 0.00977073 22 transition C T C>T 0.898 0.770 255 PASS . 0.01 . . 0.02 . 0.0044 0.0014 . 0.018 0.0031 . . . . . 0.46341464 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . 0.0025 0.0098 0.013 0.0025 0.0098 0.013 . I.11 . . . . . . . . 7.696e-03 . . . 0.0032 0.0088 0.0036 0.0002 0.0275 0.0135 0.0138 0.0040 0.0030 0.0096 0.0034 0.0002 0.0242 0.0134 0.0157 0.0040 . . . . . . UTR5 UTR5 UTR5 . . . 0.0044 . . . 0.75 0.75 182 ENSG00000009709 PAX7 PAX7 . . . . . . 485 0.00746429 64976 464 0.00773514 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191271197 . . . . . . . . . . . . . . . . . . . . . . . 0.009771 . . . . II.67 0.0022 0.0079 0.0033 0.0016 6.005e-05 0.0159 0.0117 0.0064 0.0031 0.0018 0.0077 0.0048 0.0066 0 0.0146 0.0102 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs191271197 rs191271197 1 1538 10 1/0 0,255,255 +rs34710232 1 19447882 G A - UBR4 30313 Ubiquitin protein ligase E3 component n-recognin 4 NM_020765.2 -1 15882 15552 NP_065816.2 Q5T4S7 substitution synonymous exon GRCh37 19447882 19447882 Chr1(GRCh37):g.19447882G>A 9942 9942 NM_020765.2:c.9942C>T p.Gly3314= p.Gly3314Gly 68 609890 47 3' 85.4451 X.96 0.792911 9.72055 85.4451 X.96 0.792911 9.61055 0 Cryptic Donor Strongly Activated 19447884 66.6649 4.51291 0.762643 76.1965 rs34710232 yes no Frequency/1000G 2 G 0.000000 0 0.004593 0.000800 0.003100 0.000000 0.015900 0.004300 0.004009 0.000833 0.002063 0.000888 0.000053 0.003964 0.006348 0.002017 0.005112 0.006348 1109 20 71 9 1 122 801 52 33 276604 24014 34416 10132 18846 30778 126176 25786 6456 0.000022 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 3 0 1 0 0 0 2 0 0 1103 20 69 9 1 122 797 52 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4399 12935 64 7 71 0.00744186 0.00158874 0.00545902 0.00744186 0.00158874 0.00545902 68 transition C T C>T 0.047 -1.732 G Gly GGC 0.342 G Gly GGT 0.162 3314 255 PASS 0.002 0.01 0.0028 . 0.01 0.0008 0.0046 0.0043 . 0.016 0.0031 . . UBR4:NM_020765:exon68:c.C9942T:p.G3314G . . 0.39473686 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 76.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G3314|UBR4|mRNA|CODING|NM_020765|NM_020765.ex.68) 0.0016 0.0055 0.0074 0.0016 0.0055 0.0074 . 0.5519 . . . . . . . . 4.073e-03 . . . 0.0011 0.0045 0.0017 0 0.0018 0.0070 0.0056 0.0042 0.0009 0.0038 0.0016 0 0.0017 0.0055 0.0043 0.0043 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.41 0.17 182 ENSG00000127481 UBR4 UBR4 . . . . . . 316 0.00486333 64976 294 0.00490114 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34710232 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834347 0.005459 . . . . . 0.0008 0.0041 0.0020 0.0009 0 0.0021 0.0064 0.0055 0.0040 0.0009 0.0035 0.0060 0 0.0006 0.0014 0.0057 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs34710232 rs34710232 rs34710232 rs34710232 1 1538 10 1/0 0,255,255 +rs758115542 1 19484273 G A - UBR4 30313 Ubiquitin protein ligase E3 component n-recognin 4 NM_020765.2 -1 15882 15552 NP_065816.2 Q5T4S7 substitution intron GRCh37 19484273 19484273 Chr1(GRCh37):g.19484273G>A 5760+36 5760+36 NM_020765.2:c.5760+36C>T p.? p.? 40 40 609890 36 5' 85.2503 8.22968 0.965605 4.08532 85.2503 8.22968 0.965605 4.1295 0 rs758115542 yes no Frequency 1 G 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000028 3 0 0 0 0 0 3 0 0 241498 15270 33092 9398 17150 30186 109008 22004 5390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 52 Exomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.4939759 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||UBR4|mRNA|CODING|NM_020765|) . . . . . . . 0.2150 . . . . . . . . 1.579e-05 . . . 0 1.132e-05 0 0 0 2.413e-05 0 0 0 9.637e-06 0 0 0 1.865e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000127481 UBR4 UBR4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758115542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.242e-05 0 0 0 0 2.752e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879900407 1 19594091 G A - AKR7L 24056 Aldo-keto reductase family 7 like (gene/pseudogene) NM_001348421.1 -1 2362 996 NP_001335350.1 Q8NHP1 substitution intron GRCh37 19594091 19594091 Chr1(GRCh37):g.19594091G>A 835-136 835-136 NM_001348421.1:c.835-136C>T p.? p.? 7 6 608478 -136 3' 89.2194 XI.61 0.976289 XI.93 89.2194 XI.61 0.976289 XI.93 0 rs879900407 no no 0 0.000000 0 0.000033 0.000117 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000117 1 1 0 0 0 0 0 0 0 30350 8544 832 298 1572 0 14674 3468 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition C T C>T 0.000 -1.247 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.5069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.29 0.14 182 ENSG00000211454 AKR7L AKR7L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.295e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs7512902 rs7512902 rs7512902 rs7512902 1 1538 10 1/0 0,255,255 +rs143662289 1 21071406 T G - HP1BP3 24973 Heterochromatin protein 1, binding protein 3 NM_016287.3 -1 3921 1662 NP_057371.2 Q5SSJ5 substitution missense exon GRCh37 21071406 21071406 Chr1(GRCh37):g.21071406T>G 1546 1546 NM_016287.3:c.1546A>C p.Ile516Leu p.Ile516Leu 13 616072 179 3' 92.7171 9.28149 0.992312 7.75717 92.7171 9.28149 0.992312 7.75717 0 Cryptic Acceptor Strongly Activated 21071408 III.51 0.080609 74.4649 4.20992 0.156563 74.4649 rs143662289 yes no Frequency/1000G 2 T 0.000000 0 0.006190 0.000000 0.021500 0.000000 0.007000 0.004300 0.008402 0.000583 0.004707 0.020095 0.000265 0.021149 0.008264 0.006978 0.010210 0.021149 2329 14 162 204 5 651 1047 180 66 277202 24026 34420 10152 18870 30782 126694 25794 6464 0.000159 0.000000 0.000058 0.000394 0.000000 0.000780 0.000095 0.000078 0.000000 22 0 1 2 0 12 6 1 0 2285 14 160 200 5 627 1035 178 66 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8523 4402 12925 77 4 81 0.00895349 0.000907853 0.00622789 0.00895349 0.000907853 0.00622789 108 transversion A C A>C 1.000 1.255 I Ile ATC 0.481 L Leu CTC 0.197 516 12 9 Chicken 2 2 2 0 0 5.II 4.IX 111 111 5 C0 93.66 IV.86 Tolerated 0.1 III.75 good 7.114E-1 0.03308 255 PASS . 0.0037 0.01 . 0.01 . 0.0062 0.0043 . 0.007 0.021 . . HP1BP3:NM_016287:exon13:c.A1546C:p.I516L . . 0.45945945 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.357 . @ . . . . . 1 0.337 . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|I516L|HP1BP3|mRNA|CODING|NM_016287|NM_016287.ex.13) 0.0009 0.0062 0.009 0.0009 0.0062 0.009 . -0.2206 -0.040 -0.221 c . . . . . 8.824e-03 . . . 0.0006 0.0090 0.0046 0 0.0076 0.0092 0.0140 0.0203 0.0006 0.0088 0.0046 0 0.0080 0.0089 0.0130 0.0204 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.437 . . exonic exonic exonic . . 0.517 0.0062 . . . 0.61 0.22 182 ENSG00000127483 HP1BP3 HP1BP3 . . . 0.999 0.399 . 424 0.00652549 64976 393 0.00655153 59986 Uncertain_significance . 0 . 0.216 . . . . . . . . . 37 . 0.222 . . 0.055 . . . 0.365 0.371 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.088 . . 0 0 0 0 0 0 . 0.139 . . 0.093 . . . . . . 0 0.501 . . . . . 0.323 . 0.327 . HET 0.06 rs143662289 0.011 0.007 . . . . . 0.003663003663003663 0.0 0.0055248618784530384 0.0 0.0079155672823219 VIII.93 0.00107 . V.53 IV.37 . 0.050000 Q5SSJ5 . . . 0.006228 . 0.591 . . IV.37 0.0006 0.0086 0.0046 0.0203 0.0003 0.0069 0.0079 0.0095 0.0211 0.0006 0.0070 0.0072 0.0132 0 0.0074 0.0107 0.0143 . . 0.730 . 0.991 0.991000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 0.916 . 0.452 . 0.807 0.991 0.042 0.011 . . rs143662289 rs143662289 1 1538 10 1/0 0,253,255 +rs149556293 1 21943889 G A - RAP1GAP 9858 RAP1 GTPase activating protein NM_001330383.2 -1 3707 2247 NP_001317312.1 substitution synonymous exon GRCh37 21943889 21943889 Chr1(GRCh37):g.21943889G>A 201 201 NM_001330383.2:c.201C>T p.Pro67= p.Pro67Pro 8 600278 -91 5' 85.2503 8.22968 0.774887 XII.36 85.2503 8.22968 0.774887 XII.36 0 rs149556293 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000153 0.000091 0.000094 0.000000 0.000000 0.000465 0.000154 0.000000 0.000496 0.000465 39 2 3 0 0 13 18 0 3 255358 22098 32072 9614 17642 27962 116526 23396 6048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 2 3 0 0 13 18 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 127 COSM4492235|COSM4492235|COSM4492235 Upper aerodigestive tract|Skin|Biliary tract 0.000804|0.000812|0.002732 1244|1232|366 transition C T C>T 0.024 -3.104 P Pro CCC 0.328 P Pro CCT 0.283 67 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.33734939 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.1046 . . . . . . . . 1.424e-04 . . . 0.0002 0.0003 0.0010 0 0 0.0003 0 0.0003 0.0002 0.0003 0.0010 0 0 0.0003 0 0.0003 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.2 0.29 182 ENSG00000076864 RAP1GAP RAP1GAP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149556293 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0.0001 0.0002 9.605e-05 0 0 0 0.0002 0.0006 0.0005 0 3.232e-05 0 0 0 0 6.674e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs149556293 rs149556293 1 1538 10 1/0 0,255,255 +rs534071808 1 22109283 G C - USP48 18533 Ubiquitin specific peptidase 48 NM_032236.7 -1 4188 3108 NP_115612.4 Q86UV5 substitution intron GRCh37 22109283 22109283 Chr1(GRCh37):g.22109283G>C 134+34 134+34 NM_032236.7:c.134+34C>G p.? p.? 1 1 617445 34 5' 90.6189 10.0684 0.955264 17.066 90.6189 10.0684 0.955264 17.3637 0 rs534071808 yes no Frequency/1000G 2 G 0.000000 0 0.002187 0.000000 0.000106 0.000144 0.000000 0.000054 0.003246 0.007218 0.002417 0.007218 298 0 2 1 0 1 178 107 9 136278 11446 18840 6962 6984 18664 54834 14824 3724 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000270 0.000000 4 0 0 0 0 0 2 2 0 163 0 2 1 0 1 76 79 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . I.95 . . . . . . . . 6.779e-04 . . . 0 0.0009 0 0 0 0.0027 0 0.0002 0 0.0005 0 0 0.05 0.0013 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . ENSG00000090686 USP48 USP48 . . . . . . 93 0.0014313 64976 93 0.00155036 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs534071808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0016 0.0001 0.0002 0 0.0071 0.0020 0.0015 5.358e-05 0 0.0042 0 0 0 0.0075 0.0067 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs146789326 1 22922673 G T - EPHA8 3391 EPH receptor A8 NM_020526.4 1 5005 3018 NP_065387.1 P29322 substitution intron GRCh37 22922673 22922673 Chr1(GRCh37):g.22922673G>T 1765+7 1765+7 NM_020526.4:c.1765+7G>T p.? p.? 9 9 176945 7 5' 86.3702 9.25272 0.990065 13.7706 86.3702 9.25272 0.988741 XII.92 -0.000445762 rs146789326 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.002619 0.000334 0.000525 0.000197 0.000000 0.000130 0.004009 0.006405 0.003265 0.006405 724 8 18 2 0 4 506 165 21 276390 23988 34272 10128 18850 30736 126222 25762 6432 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000155 0.000000 3 0 0 0 0 0 1 2 0 718 8 18 2 0 4 504 161 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4405 12982 23 1 24 0.00267442 0.000226963 0.0018453 0.00267442 0.000226963 0.0018453 51 COSM5019725 Soft tissue 0.003472 576 transversion G T G>T 0.039 -0.117 255 PASS . 0.0023 . . 0.01 . 0.001 . . 0.005 . . . . . . 0.4640523 . . @ 71 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . INTRON(MODIFIER||||EPHA8|mRNA|CODING|NM_020526|) 0.0002 0.0018 0.0027 0.0002 0.0018 0.0027 . 0.4359 . . . . . . . . 2.353e-03 . . . 0.0002 0.0017 0.0004 0 0.0034 0.0031 0 0.0002 0.0002 0.0022 0.0004 0 0.0053 0.0035 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.24 0.36 182 ENSG00000070886 EPHA8 EPHA8 . . . . . . 126 0.00193918 64976 121 0.00201714 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146789326 . . . . . . . . . . . . . . . . . . . . 0.0001 0.08 . 0.001845 . . . . . 0.0003 0.0023 0.0005 0.0002 0 0.0061 0.0035 0.0026 0.0001 0.0003 0.0051 0.0012 0 0 0.0083 0.0078 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs146789326 rs146789326 1 1538 10 1/0 0,240,255 +rs188686927 1 23954329 T A - MDS2 29633 Myelodysplastic syndrome 2 translocation associated NM_001348075.1 1 1029 423 NP_001335004.1 Q8NDY4 substitution 5'UTR GRCh37 23954329 23954329 Chr1(GRCh37):g.23954329T>A -325 -325 NM_001348075.1:c.-325T>A p.? p.? 2 607305 59 3' 91.1985 12.0303 0.991273 14.3524 91.1985 12.0303 0.991273 14.5381 0 Cryptic Donor Weakly Activated 23954324 2.14155 0.043681 71.6395 2.22299 0.058386 71.8807 rs188686927 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.005625 0.001243 0.004066 0.005429 0.000000 0.000393 0.009656 0.001625 0.005605 0.009656 1448 28 139 54 0 12 1154 26 35 257430 22518 34182 9946 18524 30504 119512 16000 6244 0.000109 0.000000 0.000000 0.000402 0.000000 0.000000 0.000201 0.000000 0.000000 14 0 0 2 0 0 12 0 0 1420 28 139 50 0 12 1130 26 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3943 1752 5695 39 0 39 0.00979407 0 0.00680153 0.00979407 0 0.00680153 48 transversion T A T>A 0.000 -0.117 255 PASS . 0.0023 . . 0.01 . 0.0012 0.0014 . 0.005 . . . . . . 0.5148515 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 101.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aAc|I88N|MDS2|Non-coding_transcript|NON_CODING|NR_027042|NR_027042.ex.2) . 0.0068 0.0098 . 0.0068 0.0098 . -0.2999 . . . . . . . . 5.243e-03 . . . 0.0010 0.0054 0.0032 0 0.0014 0.0105 0.0016 0.0005 0.0009 0.0053 0.0033 0 0.0016 0.0091 0 0.0005 . . . . . . UTR5 ncRNA_exonic ncRNA_exonic . . . 0.0012 . . . 0.47 0.41 182 ENSG00000197880 MDS2 MDS2 ENST00000374555:c.-1716T>A . . . . . 439 0.00675634 64976 433 0.00721835 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188686927 . . . . . . . . . . . . . . . . . . . . . . . 0.006802 . . . . . 0.0012 0.0056 0.0041 0.0056 0 0.0019 0.0096 0.0059 0.0004 0.0013 0.0054 0.0024 0 0 0.0006 0.0100 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188686927 rs188686927 1 1538 10 1/0 0,255,255 +rs9424411 1 24294362 A T - SRSF10 16713 Serine/arginine-rich splicing factor 10 NM_054016.3 -1 7792 789 NP_473357.1 O75494 substitution 3'UTR GRCh37 24294362 24294362 Chr1(GRCh37):g.24294362A>T *3270 *3270 NM_054016.3:c.*3270T>A p.? p.? 6 605221 3568 3' 77.7828 6.83744 0.638167 7.06823 77.7828 6.83744 0.638167 7.06823 0 rs9424411 yes no Frequency/1000G 2 A 0.000000 0 0.006589 0.000000 0.002000 0.010900 0.015900 0.005800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18992 7180 620 176 812 0 7908 1722 574 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 26 Genomes transversion T A T>A 0.992 0.044 255 PASS . . . . . . 0.0066 0.0058 0.011 0.016 0.002 . . . . . 0.5106383 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . . . . . . . . . 0.8428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 ncRNA_exonic UTR3 . . . 0.0066 . . . 0.57 0.65 182 ENSG00000188529 AK054635 SRSF10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145308205 0.272 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.27 rs9424411 rs9424411 rs9424411 rs145308205 1 1538 10 1/0 0,255,255 +. 1 24294450 CA C - SRSF10 16713 Serine/arginine-rich splicing factor 10 NM_054016.3 -1 7792 789 NP_473357.1 O75494 deletion 3'UTR GRCh37 24294451 24294451 Chr1(GRCh37):g.24294451del *3181 *3181 NM_054016.3:c.*3181del p.? p.? 6 605221 3479 3' 77.7828 6.83744 0.638167 7.06823 77.7828 6.83744 0.638167 7.06823 0 rs878874649 no no 0 A 0.000000 0 T 255 Pass . . . . . . . . . . . . . . . . 0.6136364 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic UTR3 . . . . . . . . . . ENSG00000188529 AK054635 SRSF10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150302572 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs34887415 rs34887415 rs150302572 rs150302572 1 1538 10 1.I 0,12,21 +rs141193530 1 24669459 C G - GRHL3 25839 Grainyhead-like transcription factor 3 NM_198174.2 1 2222 1881 NP_937817.3 Q8TE85 substitution missense exon GRCh37 24669459 24669459 Chr1(GRCh37):g.24669459C>G 1363 1363 NM_198174.2:c.1363C>G p.Pro455Ala p.Pro455Ala 11 608317 -57 5' 78.6034 5.50481 0.579246 X.62 78.6034 5.50481 0.579246 X.69 0 rs141193530 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.005000 0.000000 0.005290 0.000833 0.002266 0.003546 0.000000 0.001657 0.009119 0.003334 0.006188 0.009119 1466 20 78 36 0 51 1155 86 40 277132 23996 34418 10152 18864 30782 126662 25794 6464 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000078 0.000000 7 0 0 0 0 0 6 1 0 1452 20 78 36 0 51 1143 84 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8529 4402 12931 71 4 75 0.00825581 0.000907853 0.00576657 0.00825581 0.000907853 0.00576657 129 transversion C G C>G 0.992 5.694 P Pro CCA 0.274 A Ala GCA 0.226 455 12 5 C. elegans -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 106.82 26.83 Tolerated 0.21 II.98 255 PASS . 0.0014 . . 0.004 0.0008 0.0012 . . 0.005 . . . . . . 0.53107345 . . @ 94 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.288 . @ . . . . . 1 0.292 . . 177.0 . . . 0.0009 0.0058 0.0083 0.0009 0.0058 0.0083 . -0.1971 -0.013 -0.197 c . . . . . 5.067e-03 . . . 0.0007 0.0048 0.0016 0 0.0026 0.0085 0.0042 0.0023 0.0006 0.0045 0.0015 0 0.0026 0.0073 0.0072 0.0023 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.095 . . exonic exonic exonic . . 0.737 0.0012 . . . 0.34 0.58 182 ENSG00000158055 GRHL3 GRHL3 . . . 1.000 0.747 . 325 0.00500185 64976 319 0.00531791 59986 Benign . 0 . 0.481 . . . . T 0.152 0.006 . . 37 . 0.064 . . 0.328 . . . 0.424 0.464 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.253 . . 0 0 0 0 0 0 . 0.191 . . 0.216 . . . . . . 0 0.477 . . . . . 0.892 . 0.333 . HET 0.03 rs141193530 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 18.0523 0.00107 . V.27 V.27 . 0.530000 . . . . 0.005767 . 0.878 . . V.27 0.0008 0.0051 0.0022 0.0037 0 0.0035 0.0087 0.0053 0.0017 0.0008 0.0068 0.0048 0 0 0.0020 0.0120 0.0112 . . 0.482 . 2.746 2.746000 . . 0.530000 . . 1.0E-255 1.000 0.715 . 0.167 0.668 . 0.625 . 0.490 2.746 0.871 0.0083 . . rs141193530 rs141193530 1 1538 10 1/0 0,240,255 +rs586670 1 25599204 A C - RHD 10009 Rh blood group, D antigen NM_001282871.1 1 2853 1482 NP_001269800.1 substitution intron GRCh37 25599204 25599204 Chr1(GRCh37):g.25599204A>C 148+18 148+18 NM_001282871.1:c.148+18A>C p.? p.? 1 1 111680 18 5' 90.0021 8.68007 0.981219 6.79544 90.0021 8.68007 0.981219 6.41308 0 rs586670 yes no Frequency/1000G 2 A 0.000000 0 0.000772 0.000536 0.003408 0.000109 0.000267 0.000209 0.000413 0.000225 0.000890 0.003408 188 12 111 1 5 6 43 5 5 243578 22386 32566 9204 18744 28700 104134 22226 5618 0.000411 0.000268 0.001658 0.000000 0.000107 0.000139 0.000250 0.000180 0.000712 50 3 27 0 1 2 13 2 2 88 6 57 1 3 2 17 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 1.416 194 PASS 0.04 0.07 0.07 0.02 0.14 . . . . . . . . . . . 0.14444445 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . 0.1638 . . . . . . . . 3.083e-04 . . . 0.0002 0.0002 0.0007 0.0005 0 8.419e-05 0 0.0002 0.0002 0.0002 0.0007 0.0004 0 4.337e-05 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.55 182 . RHD RHD . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs586670 0.054 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . II.42 0.0005 0.0008 0.0034 0.0001 0.0003 0.0002 0.0003 0.0008 0.0002 0.0007 0.0009 0.0039 0 0 0.0003 0.0012 0.0013 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . 0.14 rs586670 rs586670 rs586670 rs586670 1 1538 10 1/0 0,235,255 +rs586670 1 25599204 A C - RSRP1 25234 Arginine/serine-rich protein 1 NM_001321772.1 -1 2506 873 NP_001308701.1 Q9BUV0 substitution intron GRCh37 25599204 25599204 Chr1(GRCh37):g.25599204A>C -25750 -25750 NM_001321772.1:c.-66-25684T>G p.? p.? 2 1 -25684 3' 89.3379 XII.33 0.980821 XI.43 89.3379 XII.33 0.980821 XI.43 0 rs586670 yes no Frequency/1000G 2 A 0.000000 0 0.000772 0.000536 0.003408 0.000109 0.000267 0.000209 0.000413 0.000225 0.000890 0.003408 188 12 111 1 5 6 43 5 5 243578 22386 32566 9204 18744 28700 104134 22226 5618 0.000411 0.000268 0.001658 0.000000 0.000107 0.000139 0.000250 0.000180 0.000712 50 3 27 0 1 2 13 2 2 88 6 57 1 3 2 17 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 1.416 194 PASS 0.04 0.07 0.07 0.02 0.14 . . . . . . . . . . . 0.14444445 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . 0.1638 . . . . . . . . 3.083e-04 . . . 0.0002 0.0002 0.0007 0.0005 0 8.419e-05 0 0.0002 0.0002 0.0002 0.0007 0.0004 0 4.337e-05 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.55 182 . RHD RHD . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs586670 0.054 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . II.42 0.0005 0.0008 0.0034 0.0001 0.0003 0.0002 0.0003 0.0008 0.0002 0.0007 0.0009 0.0039 0 0 0.0003 0.0012 0.0013 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . 0.14 rs586670 rs586670 rs586670 rs586670 1 1538 10 1/0 0,235,255 +. 1 26156144 A G - MTFR1L 28836 Mitochondrial fission regulator 1-like NM_001099625.1 1 2005 879 NP_001093095.1 Q9H019 substitution missense exon GRCh37 26156144 26156144 Chr1(GRCh37):g.26156144A>G 596 596 NM_001099625.1:c.596A>G p.Glu199Gly p.Glu199Gly 6 145 3' 91.903 11.1071 0.982681 9.19302 91.903 11.1071 0.982681 9.19302 0 Cryptic Acceptor Strongly Activated 26156156 0.214244 2.88775 0.240457 72.5737 Protein of unknown function DUF729 transition A G A>G 1.000 4.967 E Glu GAG 0.583 G Gly GGG 0.250 199 12 12 Chicken -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C65 0.00 97.85 Deleterious 0 IV.32 bad 3.131E-5 7.558E-5 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.893 . . 64.0 . . . . . . . . . . 0.5029 0.613 0.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.997 @ . . . . . . ENSG00000117640 MTFR1L MTFR1L . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.415 . . . . T 0.442 0.021 . . 37 . 0.394 . . 0.125 . . . 0.498 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.778 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 2 0.682 . . . . . 0.856 . 0.821 . HET 0 . . . . . . . . . . . . . 16.8222 . . VI.17 VI.17 . 0.060000 Q9H019-2 . . . . . 0.927 . . VI.17 . . . . . . . . . . . . . . . . . . . 0.730 . 2.371 2.371000 . . . . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.908 . 0.960 2.371 1.062 . . . . . 1 1538 10 1/0 0,255,255 +. 1 26607447 T G - SH3BGRL3 15568 SH3 domain binding glutamic acid-rich protein like 3 NM_031286.3 1 1115 282 NP_112576.1 Q9H299 substitution intron GRCh37 26607447 26607447 Chr1(GRCh37):g.26607447T>G 216+24 216+24 NM_031286.3:c.216+24T>G p.? p.? 2 2 615679 24 5' 72.7921 5.84413 0.335014 7.62716 72.7921 5.84413 0.335014 8.49896 0 transversion T G T>G 0.000 -0.360 184 PASS . . . . . . . . . . . ENSG00000142669:ENST00000319041:exon2:c.T240G:p.G80G . . . . 0.12328767 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 0.9429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000142669 SH3BGRL3 SH3BGRL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 1 26607447 T G - UBXN11 30600 UBX domain protein 11 NM_183008.2 -1 1853 1563 NP_892120.2 Q5T124 substitution downstream GRCh37 26607447 26607447 Chr1(GRCh37):g.26607447T>G *1343 *1343 NM_183008.2:c.*1343A>C p.? p.? 16 609151 1614 3' 80.8108 8.331 0.770949 9.48235 80.8108 8.331 0.770949 9.48235 0 transversion A C A>C 0.000 -0.360 184 PASS . . . . . . . . . . . ENSG00000142669:ENST00000319041:exon2:c.T240G:p.G80G . . . . 0.12328767 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 0.9429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000142669 SH3BGRL3 SH3BGRL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs78173177 1 27217288 G A - GPATCH3 25720 G patch domain containing 3 NM_022078.2 -1 2129 1578 NP_071361.2 Q96I76 substitution 3'UTR GRCh37 27217288 27217288 Chr1(GRCh37):g.27217288G>A *213 *213 NM_022078.2:c.*213C>T p.? p.? 7 617486 430 3' 92.5588 5.13816 0.919906 3.89848 92.5588 5.13816 0.919906 3.89848 0 rs78173177 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.000885 0.000174 0.000205 0.001410 0.000000 0.000098 0.001491 0.001009 0.000471 0.001491 240 4 7 14 0 3 183 26 3 271234 22930 34214 9926 18732 30550 122746 25760 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240 4 7 14 0 3 183 26 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3979 1752 5731 3 0 3 0.00075339 0 0.000523195 0.00075339 0 0.000523195 66 transition C T C>T 0.000 -0.360 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.7344 . . . . . . . . 7.900e-04 . . . 0.0002 0.0007 0 0 0.0021 0.0012 0 0.0001 0.0003 0.0008 0 0 0.0014 0.0013 0 0.0001 . . . . . . UTR3 ncRNA_intronic UTR3 . . . 0.0006 . . . 0.56 0.56 182 ENSG00000198746 BC016143 GPATCH3 . . NM_022078:c.*213C>T . . . 71 0.00109271 64976 68 0.0011336 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78173177 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834524 0.000523 . . . . . 0.0002 0.0009 0.0002 0.0015 0 0.0011 0.0015 0.0004 9.82e-05 0.0001 0.0008 0 0 0 0.0006 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs78173177 rs78173177 1 1538 10 1/0 0,255,255 +rs78173177 1 27217288 G A - GPN2 25513 GPN-loop GTPase 2 NM_018066.3 -1 1510 933 NP_060536.3 Q9H9Y4 substitution upstream GRCh37 27217288 27217288 Chr1(GRCh37):g.27217288G>A -701 -701 NM_018066.3:c.-701C>T p.? p.? 1 -1112 5' 75.5849 7.22056 0.957255 VII.61 75.5849 7.22056 0.957255 VII.61 0 rs78173177 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.000885 0.000174 0.000205 0.001410 0.000000 0.000098 0.001491 0.001009 0.000471 0.001491 240 4 7 14 0 3 183 26 3 271234 22930 34214 9926 18732 30550 122746 25760 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240 4 7 14 0 3 183 26 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3979 1752 5731 3 0 3 0.00075339 0 0.000523195 0.00075339 0 0.000523195 66 transition C T C>T 0.000 -0.360 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.7344 . . . . . . . . 7.900e-04 . . . 0.0002 0.0007 0 0 0.0021 0.0012 0 0.0001 0.0003 0.0008 0 0 0.0014 0.0013 0 0.0001 . . . . . . UTR3 ncRNA_intronic UTR3 . . . 0.0006 . . . 0.56 0.56 182 ENSG00000198746 BC016143 GPATCH3 . . NM_022078:c.*213C>T . . . 71 0.00109271 64976 68 0.0011336 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78173177 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834524 0.000523 . . . . . 0.0002 0.0009 0.0002 0.0015 0 0.0011 0.0015 0.0004 9.82e-05 0.0001 0.0008 0 0 0 0.0006 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs78173177 rs78173177 1 1538 10 1/0 0,255,255 +rs61742782 1 27873845 G A - AHDC1 25230 AT hook, DNA binding motif, containing 1 NM_001029882.3 -1 6358 4812 NP_001025053.1 Q5TGY3 substitution synonymous exon GRCh37 27873845 27873845 Chr1(GRCh37):g.27873845G>A 4782 4782 NM_001029882.3:c.4782C>T p.Pro1594= p.Pro1594Pro 6 615790 -74 5' 82.5488 8.73118 0.991361 9.66837 82.5488 8.73118 0.991361 9.50472 0 rs61742782 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000800 0.004100 0.000000 0.003000 0.004300 0.003692 0.001199 0.002672 0.014085 0.000000 0.004216 0.005128 0.000133 0.005169 0.014085 830 28 67 76 0 87 543 3 26 224838 23362 25074 5396 16974 20634 105886 22482 5030 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000038 0.000000 0.000000 2 0 0 0 0 0 2 0 0 826 28 67 76 0 87 539 3 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8546 4400 12946 54 6 60 0.00627907 0.00136178 0.00461326 0.00627907 0.00136178 0.00461326 91 transition C T C>T 0.984 -0.360 P Pro CCC 0.328 P Pro CCT 0.283 1594 255 PASS . 0.0009 0.0028 . 0.0013 0.0008 0.0022 0.0043 . 0.003 0.0041 . . AHDC1:NM_001029882:exon6:c.C4782T:p.P1594P . . 0.57575756 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 99.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P1594|AHDC1|mRNA|CODING|NM_001029882|NM_001029882.ex.6) 0.0014 0.0046 0.0063 0.0014 0.0046 0.0063 . I.94 . . . . . . . . 3.816e-03 . . . 0.0010 0.0044 0.0027 0 0.0005 0.0065 0.0050 0.0050 0.0011 0.0036 0.0027 0 0.0003 0.0049 0.0052 0.0049 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0022 . . . 0.54 0.42 182 ENSG00000126705 AHDC1 AHDC1 . . . . . . 318 0.00489411 64976 307 0.00511786 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61742782 . . . . . . . . . . . . . . . . . . . . . . . 0.004613 . . . . . 0.0012 0.0038 0.0028 0.0141 0 0.0002 0.0052 0.0054 0.0042 0.0013 0.0027 0 0.0132 0 0 0.0044 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0063 . . rs61742782 rs61742782 1 1538 10 1/0 0,255,255 +rs547985559 1 28203094 C T - THEMIS2 16839 Thymocyte selection associated family member 2 NM_001105556.2 1 2724 1932 NP_001099026.1 Q5TEJ8 substitution splice site GRCh37 28203094 28203094 Chr1(GRCh37):g.28203094C>T 95-5 95-5 NM_001105556.2:c.95-5C>T p.? p.? 2 1 617856 -5 3' 88.2375 9.62282 0.89604 7.46257 91.7831 8.75101 0.852788 6.34205 -0.0328951 rs547985559 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000024 0.000000 0.000030 0.000000 0.000000 0.000065 0.000018 0.000000 0.000185 0.000065 6 0 1 0 0 2 2 0 1 245178 15294 33260 9810 17236 30626 111350 22186 5416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 2 2 0 1 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition C T C>T 0.000 -0.198 227 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.35714287 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . 0.1369 . . . . . . . . 1.579e-05 . . . 0 2.229e-05 0 0 0 0 0.0014 6.25e-05 0 9.482e-06 0 0 0 0 0 6.286e-05 . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000130775 THEMIS2 THEMIS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs547985559 . . . . . . . . . . . . . . . . . . . . 0.0001 0.016 . . . . . . . 0 2.447e-05 3.007e-05 0 0 0 1.796e-05 0.0002 6.53e-05 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 17 1/0 0,237,255 +rs531891233 1 32052247 G C - TINAGL1 19168 Tubulointerstitial nephritis antigen-like 1 NM_022164.2 1 2237 1404 NP_071447.1 Q9GZM7 substitution intron GRCh37 32052247 32052247 Chr1(GRCh37):g.32052247G>C 1218-64 1218-64 NM_022164.2:c.1218-64G>C p.? p.? 11 10 616064 -64 3' 81.6438 12.109 0.960101 16.4626 81.6438 12.109 0.960101 16.3318 0 rs531891233 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.001261 0.000459 0.001193 0.000000 0.000000 0.000000 0.002005 0.000573 0.002041 0.002005 39 4 1 0 0 0 30 2 2 30916 8720 838 302 1622 0 14964 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 4 1 0 0 0 30 2 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G C G>C 0.000 -1.328 255 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.46268657 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.4673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000142910 TINAGL1 TINAGL1 . . . . . . 51 0.000784905 64976 50 0.000833528 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531891233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0013 0.0012 0 0 0.0006 0.0020 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs535888711 1 32098220 C T - PEF1 30009 Penta-EF-hand domain containing 1 NM_012392.3 -1 1979 855 NP_036524.1 Q9UBV8 substitution synonymous exon GRCh37 32098220 32098220 Chr1(GRCh37):g.32098220C>T 501 501 NM_012392.3:c.501G>A p.Lys167= p.Lys167Lys 4 610033 20 3' 82.2917 10.0977 0.933313 13.3549 82.2917 10.0977 0.944099 13.3233 0.00385223 Calcium-binding EF-hand rs535888711 yes no Frequency 1 C 0.000000 0 0.000173 0.000000 0.000000 0.000000 0.000000 0.000000 0.000308 0.000349 0.000000 0.000349 48 0 0 0 0 0 39 9 0 277016 24026 34418 10146 18864 30780 126546 25774 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 0 0 0 0 0 39 9 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.992 0.528 K Lys AAG 0.575 K Lys AAA 0.425 167 255 PASS . . . . . . . . . . . ENSG00000162517:ENST00000373703:exon4:c.G501A:p.K167K . PEF1:NM_012392:exon4:c.G501A:p.K167K . . 0.46666667 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 45.0 . . . . . . . . . . 1.1726 . . . . . . . . 1.184e-04 . . . 0 6.646e-05 0 0 0 0.0001 0 0 0 0.0001 0 0 0.0003 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000162517 . PEF1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535888711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII 0 0.0002 0 0 0 0.0004 0.0003 0 0 0 0.0003 0 0 0 0.0003 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149543696 1 32230666 C T - ADGRB2 944 Adhesion G protein-coupled receptor B2 NM_001294335.1 -1 5440 4755 NP_001281264.1 substitution upstream GRCh37 32230666 32230666 Chr1(GRCh37):g.32230666C>T -1372 -1372 NM_001294335.1:c.-1372G>A p.? p.? 1 602683 -1182 5' 95.6376 X.36 0.995681 13.5223 95.6376 X.36 0.995681 13.5223 0 rs149543696 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.008000 0.000000 0.004361 0.001490 0.002387 0.000000 0.000000 0.000000 0.005801 0.008872 0.002041 0.008872 135 13 2 0 0 0 87 31 2 30956 8724 838 302 1620 0 14998 3494 980 0.007407 0.000000 0.000000 0.000000 0.000000 0.000000 0.011494 0.000000 0.000000 1 0 0 0 0 0 1 0 0 133 13 2 0 0 0 85 31 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.071 0.286 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.008 . . . . . . 0.6166667 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . . . . . . . . . 1.1023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . 0.0016 . . . 0.51 0.53 182 ENSG00000121753 . . . dist\x3d1018\x3bdist\x3d25359 dist\x3d1002\x3bdist\x3d25357 . . . 373 0.00574058 64976 365 0.00608475 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149543696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0044 0.0024 0 0 0.0089 0.0058 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149543696 rs149543696 1 1538 10 1/0 0,255,255 +. 1 32682109 TC T - DCDC2B 32576 Doublecortin domain containing 2B NM_001099434.1 1 1349 1050 NP_001092904.1 A2VCK2 deletion downstream GRCh37 32682111 32682111 Chr1(GRCh37):g.32682111del *613 *613 NM_001099434.1:c.*613del p.? p.? 9 709 3' 81.1906 VIII.48 0.624083 9.1261 81.1906 VIII.48 0.624083 9.1261 0 rs889581150 yes no Frequency 1 C 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000017 1 0 0 0 0 0 1 0 0 151000 7614 23944 8230 10238 22818 57600 16674 3882 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes C 255 Pass . . . . . . . . . . . . . . . . 0.5151515 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . . exonic UTR3 UTR3 . . . . . . . . . . ENSG00000160055 TMEM234 TMEM234 . . NM_019118:c.*344delG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv300 . . . . . . 0 6.623e-06 0 0 0 0 1.736e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,29 +. 1 32682109 TC T - TMEM234 28837 Transmembrane protein 234 NM_019118.4 -1 1128 423 NP_061991.3 deletion 3'UTR GRCh37 32682110 32682110 Chr1(GRCh37):g.32682110del *344 *344 NM_019118.4:c.*344del p.? p.? 5 439 3' 83.9991 6.35383 0.594538 5.82571 83.9991 6.35383 0.594538 5.82571 0 Cryptic Acceptor Strongly Activated 32682102 1.15347 0.050957 75.7176 2.68469 0.205922 80.6285 rs889581150 yes no Frequency 1 C 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000017 1 0 0 0 0 0 1 0 0 151000 7614 23944 8230 10238 22818 57600 16674 3882 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes G 255 Pass . . . . . . . . . . . . . . . . 0.5151515 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . . exonic UTR3 UTR3 . . . . . . . . . . ENSG00000160055 TMEM234 TMEM234 . . NM_019118:c.*344delG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv300 . . . . . . 0 6.623e-06 0 0 0 0 1.736e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,29 +rs756338795 1 32690110 T C - EIF3I 3272 Eukaryotic translation initiation factor 3 subunit I NM_003757.3 1 1919 978 NP_003748.1 Q13347 substitution intron GRCh37 32690110 32690110 Chr1(GRCh37):g.32690110T>C 250+34 250+34 NM_003757.3:c.250+34T>C p.? p.? 5 5 603911 34 5' 94.2214 9.88355 0.996615 9.17552 94.2214 9.88355 0.996615 9.24293 0 rs756338795 yes no Frequency 1 T 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000040 0.000000 0.000000 0.000040 5 0 0 0 0 0 5 0 0 276862 24020 34366 10124 18864 30730 126536 25774 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.008 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.47826087 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.2557 . . . . . . . . 7.893e-06 . . . . . . . . . . . 0 9.436e-06 0 0 0 1.843e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000084623 EIF3I EIF3I . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs756338795 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv300 . . . . . . 0 1.22e-05 0 0 0 0 2.689e-05 0 0 0 6.467e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 32827418 A G - FAM229A 44652 Family with sequence similarity 229, member A NM_001167676.1 -1 699 384 NP_001161148.1 H3BQW9 substitution missense exon GRCh37 32827418 32827418 Chr1(GRCh37):g.32827418A>G 194 194 NM_001167676.1:c.194T>C p.Ile65Thr p.Ile65Thr 2 60 3' 75.8439 7.93093 0.677201 1.219 75.8439 7.93093 0.677201 1.77763 0 rs993568804 yes no Frequency 1 A 0.000000 0 0.000062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000000 0.000000 0.000128 2 0 0 0 0 0 2 0 0 32398 8944 1026 320 1676 264 15636 3520 1012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 1.000 2.142 I Ile ATT 0.356 T Thr ACT 0.243 65 9 9 Opossum -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C65 0.00 89.28 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . FAM229A:uc021oku.1:exon2:c.T194C:p.I65T FAM229A:NM_001167676:exon2:c.T194C:p.I65T . . 0.44578314 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.502 . @ . . . . . 1 0.218 . . 83.0 . . . . . . . . . . I.78 2.368 1.858 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.399 @ . . . . . . ENSG00000225828 FAM229A FAM229A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.919 0.334 . . 37 . . . . . . . . 0.181 0.301 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.823 . . 0 0 0 0 0 0 . . . . . . . . . . . 6 0.682 . . . . . 0.405 . 0.808 . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv211n71 . . 0.330 . . III.57 0 0 0 0 0 0 0 0 0 0 6.491e-05 0 0 0 0 0.0001 0 . . 0.477 . . . . . . . . 1.0E-255 1.000 0.715 . 0.888 0.925 . 0.398 . 0.606 . 1.039 . . . . . 1 1538 10 1/0 0,255,255 +. 1 32827418 A G - TSSK3 15473 Testis-specific serine kinase 3 NM_052841.3 1 1317 807 NP_443073.1 Q96PN8 substitution upstream GRCh37 32827418 32827418 Chr1(GRCh37):g.32827418A>G -885 -885 NM_052841.3:c.-885A>G p.? p.? 1 607660 -1030 5' 89.5524 9.59704 0.992079 6.73336 89.5524 9.59704 0.992079 6.73336 0 New Acceptor Site 32827419 0.500123 0.010548 73.6152 rs993568804 yes no Frequency 1 A 0.000000 0 0.000062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000000 0.000000 0.000128 2 0 0 0 0 0 2 0 0 32398 8944 1026 320 1676 264 15636 3520 1012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 1.000 2.142 255 PASS . . . . . . . . . . . . FAM229A:uc021oku.1:exon2:c.T194C:p.I65T FAM229A:NM_001167676:exon2:c.T194C:p.I65T . . 0.44578314 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.502 . @ . . . . . 1 0.218 . . 83.0 . . . . . . . . . . I.78 2.368 1.858 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.399 @ . . . . . . ENSG00000225828 FAM229A FAM229A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.919 0.334 . . 37 . . . . . . . . 0.181 0.301 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.823 . . 0 0 0 0 0 0 . . . . . . . . . . . 6 0.682 . . . . . 0.405 . 0.808 . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv211n71 . . 0.330 . . III.57 0 0 0 0 0 0 0 0 0 0 6.491e-05 0 0 0 0 0.0001 0 . . 0.477 . . . . . . . . 1.0E-255 1.000 0.715 . 0.888 0.925 . 0.398 . 0.606 . 1.039 . . . . . 1 1538 10 1/0 0,255,255 +rs704886 (chr1:33065947 G/C) 1 33065947 G C Transcript NM_001040441.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) ZBTB8A +rs188104783 1 35654748 T C - SFPQ 10774 Splicing factor proline/glutamine-rich NM_005066.2 -1 3073 2124 NP_005057.1 P23246 substitution intron GRCh37 35654748 35654748 Chr1(GRCh37):g.35654748T>C 1612+39 1612+39 NM_005066.2:c.1612+39A>G p.? p.? 5 5 605199 39 5' 82.2129 8.37568 0.963318 3.29418 82.2129 8.37568 0.963318 3.57455 0 Cryptic Donor Strongly Activated 35654753 3.77335 0.100466 77.6593 8.67858 0.814986 89.8108 rs188104783 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.001000 0.006000 0.000000 0.002518 0.000625 0.000640 0.002962 0.000318 0.000000 0.003116 0.008340 0.002321 0.008340 697 15 22 30 6 0 394 215 15 276782 24010 34366 10130 18860 30752 126424 25778 6462 0.000029 0.000000 0.000000 0.000197 0.000000 0.000000 0.000016 0.000155 0.000000 4 0 0 1 0 0 1 2 0 689 15 22 28 6 0 392 211 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8571 4405 12976 29 1 30 0.00337209 0.000226963 0.00230663 0.00337209 0.000226963 0.00230663 162 transition A G A>G 0.000 -0.924 255 PASS . 0.0018 . . 0.01 . 0.0014 . 0.001 0.006 . . . . . . 0.53968257 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||SFPQ|mRNA|CODING|NM_005066|) 0.0002 0.0023 0.0034 0.0002 0.0023 0.0034 . -0.1328 . . . . . . . . 2.360e-03 . . . 0.0006 0.0020 0.0004 0.0005 0.0087 0.0032 0.0028 0 0.0004 0.0021 0.0004 0.0004 0.0073 0.0030 0.0043 0 . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.23 0.3 182 ENSG00000116560 SFPQ SFPQ . . . . . . 179 0.00275486 64976 172 0.00286734 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188104783 . . . . . . . . . . . . . . . . . . . . . . . 0.002307 . . . . . 0.0007 0.0024 0.0006 0.0031 0.0003 0.0080 0.0031 0.0022 0 0.0006 0.0033 0.0036 0 0.0006 0.0106 0.0035 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188104783 rs188104783 1 1538 10 1/0 0,255,255 +rs758630961 (chr1:36359875 G/C) 1 36359875 G C Sequence discrepancies in AGO1 transcript(s): NM_001317122.1 AGO1 +rs149090218 1 36563536 G A - COL8A2 2216 Collagen, type VIII, alpha 2 NM_005202.3 -1 4534 2112 NP_005193.1 P25067 substitution synonymous exon GRCh37 36563536 36563536 Chr1(GRCh37):g.36563536G>A 1746 1746 NM_005202.3:c.1746C>T p.Thr582= p.Thr582Thr 4 120252 1553 3' 91.4251 XI.78 0.988364 14.741 91.4251 XI.78 0.988364 14.741 0 Complement C1q protein rs149090218 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008000 0.001400 0.003244 0.000969 0.003126 0.002782 0.000000 0.000000 0.004279 0.007638 0.001876 0.007638 882 23 107 28 0 0 533 179 12 271854 23740 34226 10064 18732 30684 124574 23436 6398 0.000037 0.000000 0.000000 0.000199 0.000000 0.000000 0.000032 0.000171 0.000000 5 0 0 1 0 0 2 2 0 872 23 107 26 0 0 529 175 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4403 12960 43 3 46 0.005 0.00068089 0.00353683 0.005 0.00068089 0.00353683 29 transition C T C>T 0.992 0.044 T Thr ACC 0.361 T Thr ACT 0.243 582 255 PASS . 0.0027 0.0028 . 0.01 . 0.0018 0.0014 . 0.008 . . . . . . 0.516129 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 124.0 . . . 0.0007 0.0035 0.005 0.0007 0.0035 0.005 . I.17 . . . . . . . . 3.066e-03 . . . 0.0008 0.0035 0.0028 0 0.0092 0.0057 0.0047 0 0.0006 0.0030 0.0027 0 0.0076 0.0043 0.0048 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.16 0.28 182 ENSG00000171812 COL8A2 COL8A2 . . . . . . 224 0.00344743 64976 215 0.00358417 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs149090218 . . . . . . . . . . . . . . . . . . . . . . . 0.003537 . . . . . 0.0008 0.0032 0.0031 0.0029 0 0.0074 0.0043 0.0020 0 0.0013 0.0035 0.0036 0 0 0.0089 0.0041 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149090218 rs149090218 1 1538 10 1/0 0,255,255 +rs139650826 1 36636774 G A - MAP7D1 25514 MAP7 domain containing 1 NM_018067.4 1 3570 2526 NP_060537.3 Q3KQU3 substitution synonymous exon GRCh37 36636774 36636774 Chr1(GRCh37):g.36636774G>A 249 249 NM_018067.4:c.249G>A p.Gln83= p.Gln83Gln 2 -143 5' 85.1573 6.63725 0.972928 7.26657 85.1573 6.63725 0.972928 7.26657 0 rs139650826 yes no Frequency/1000G 2 G 0.000000 0 0.004593 0.000800 0.001000 0.000000 0.017900 0.004300 0.009689 0.002340 0.006227 0.003859 0.000000 0.000358 0.016268 0.010010 0.007752 0.016268 2674 56 214 39 0 11 2046 258 50 275990 23934 34368 10106 18854 30738 125766 25774 6450 0.000167 0.000000 0.000058 0.000198 0.000000 0.000000 0.000302 0.000155 0.000000 23 0 1 1 0 0 19 2 0 2628 56 212 37 0 11 2008 254 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8475 4394 12869 125 12 137 0.0145349 0.00272356 0.0105336 0.0145349 0.00272356 0.0105336 41 transition G A G>A 0.984 0.690 Q Gln CAG 0.744 Q Gln CAA 0.256 83 255 PASS . 0.01 0.01 . 0.02 0.0008 0.0046 0.0043 . 0.018 0.001 . . . . . 0.5185185 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 81.0 . . . 0.0027 0.011 0.015 0.0027 0.011 0.015 . 0.8364 . . . . . . . . 9.756e-03 . . . 0.0029 0.0090 0.0056 0 0.0110 0.0159 0.0129 0.0002 0.0026 0.0091 0.0055 0 0.0097 0.0149 0.0073 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.54 0.35 182 ENSG00000116871 MAP7D1 MAP7D1 . . . . . . 821 0.0126354 64976 798 0.0133031 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139650826 . . . . . . . . . . . . . . . . . . . . . . . 0.010534 . . . . II.18 0.0024 0.0097 0.0062 0.0040 0 0.0099 0.0165 0.0082 0.0004 0.0022 0.0094 0.0072 0 0 0.0109 0.0148 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs139650826 rs139650826 1 1538 10 1/0 0,255,255 +rs202103117 1 36642367 C T - MAP7D1 25514 MAP7 domain containing 1 NM_018067.4 1 3570 2526 NP_060537.3 Q3KQU3 substitution missense exon GRCh37 36642367 36642367 Chr1(GRCh37):g.36642367C>T 1303 1303 NM_018067.4:c.1303C>T p.Arg435Cys p.Arg435Cys 8 70 3' 88.6529 XII.15 0.989417 13.0506 88.6529 XII.15 0.989417 XII.72 0 rs202103117 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.001000 0.001000 0.000000 0.000000 0.000231 0.000000 0.000000 0.001269 0.001198 0.000247 0.000150 0.000043 0.000000 0.001269 58 0 0 12 21 7 17 1 0 251390 21904 32070 9456 17526 28348 113050 23156 5880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 0 0 12 21 7 17 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 1.000 1.577 R Arg CGC 0.190 C Cys TGC 0.552 435 12 9 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 III.37 255 PASS . 0.0005 . 0.0017 . . 0.0004 . 0.001 . 0.001 . . . . . 0.46268657 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.955 . @ . . . . . 1 0.950 . . 67.0 . . . . . . . . . . 0.6181 0.593 0.618 c . . . . . 2.144e-04 . . . 0 0.0003 0 0.0013 0 0.0003 0 0.0002 0 0.0002 0 0.0017 0.0004 0.0001 0 8.667e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.053 . . exonic exonic exonic . . 0.672 0.0004 . . . 0.39 0.29 182 ENSG00000116871 MAP7D1 MAP7D1 . . . 1.000 0.747 . 11 0.000169293 64976 9 0.000150035 59986 Uncertain_significance . 0 . 0.359 . . . . T 0.479 0.025 . . 37 . 0.215 . . 0.001 . . . 0.644 0.468 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.686 . . 0 0 0 0 0 0 . 0.899 . . 0.651 . . . . . . 0 0.784 . . . . . 0.752 . 0.549 . HET 0 rs202103117 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0017482517482517483 0.0 15.4913 . . 5.IV 5.IV . 0.000000 . . . . . . 0.561 . . 5.IV 0 0.0002 0 0.0013 0.0010 5.084e-05 0.0001 0 0.0002 0 0.0003 0 0 0.0031 0 0.0003 0 . . 0.980 . 2.513 2.513000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.587 0.969 . 0.459 . 0.374 2.513 0.598 0.0017 . . rs202103117 rs202103117 1 1538 10 1/0 0,255,255 +rs78136170 1 36859470 G A - LSM10 17562 LSM10, U7 small nuclear RNA associated NM_032881.2 -1 927 372 NP_116270.1 Q969L4 substitution synonymous exon GRCh37 36859470 36859470 Chr1(GRCh37):g.36859470G>A 261 261 NM_032881.2:c.261C>T p.Asp87= p.Asp87Asp 2 285 3' 77.6945 X.66 0.668463 10.855 77.6945 X.66 0.668463 10.855 0 rs78136170 yes no Frequency/1000G 2 G 0.000000 0 0.009585 0.000000 0.000000 0.014900 0.001000 0.046100 0.007412 0.000624 0.043088 0.000197 0.017170 0.002274 0.000758 0.000465 0.008197 0.043088 2055 15 1483 2 324 70 96 12 53 277252 24040 34418 10152 18870 30782 126732 25792 6466 0.000346 0.000000 0.002557 0.000000 0.000318 0.000065 0.000000 0.000000 0.000000 48 0 44 0 3 1 0 0 0 1959 15 1395 2 318 68 96 12 53 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4402 12999 3 4 7 0.000348837 0.000907853 0.000538213 0.000348837 0.000907853 0.000538213 142 COSM3997504 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.748 -0.763 D Asp GAC 0.539 D Asp GAT 0.461 87 255 PASS . 0.01 0.03 0.02 0.0013 . 0.0096 0.046 0.015 0.001 . ENSG00000181817:ENST00000315732:exon2:c.C261T:p.D87D . LSM10:NM_032881:exon2:c.C261T:p.D87D . . 0.4 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 180.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D87|LSM10|mRNA|CODING|NM_032881|NM_032881.ex.2) 0.0009 0.0005 0.0003 0.0009 0.0005 0.0003 . 0.4386 . . . . . . . . 6.290e-03 . . . 0.0010 0.0075 0.0437 0.0193 0.0003 0.0005 0.0042 0.0019 0.0009 0.0071 0.0441 0.0182 0.0006 0.0013 0.0043 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0096 . . . 0.48 0.33 182 ENSG00000181817 LSM10 LSM10 . . . . . . 78 0.00120044 64976 30 0.000500117 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78136170 0.033 0.022 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv47e1 0.000538 . . . . . 0.0007 0.0080 0.0434 0.0002 0.0167 0.0005 0.0008 0.0091 0.0023 0.0005 0.0025 0.0322 0 0.0222 0.0003 0.0005 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs78136170 rs78136170 1 1538 10 1/0 0,226,252 +rs150126875 1 36926423 C G - MRPS15 14504 Mitochondrial ribosomal protein S15 NM_031280.3 -1 965 774 NP_112570.2 P82914 substitution intron GRCh37 36926423 36926423 Chr1(GRCh37):g.36926423C>G 301-46 301-46 NM_031280.3:c.301-46G>C p.? p.? 5 4 611979 -46 3' 85.4625 X.76 0.724263 X.18 85.4625 X.76 0.724263 X.58 0 rs150126875 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.000000 0.000000 0.018800 0.000000 0.000000 0.001894 0.000000 0.000118 0.000100 0.022065 0.000786 0.000427 0.000717 0.001099 0.022065 516 0 4 1 409 24 53 18 7 272388 23722 33974 10014 18536 30536 124148 25088 6370 0.000044 0.000000 0.000000 0.000000 0.000647 0.000000 0.000000 0.000000 0.000000 6 0 0 0 6 0 0 0 0 504 0 4 1 397 24 53 18 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 65 transversion G C G>C 0.000 -0.037 255 PASS . 0.01 . 0.03 . . 0.0038 . 0.019 . . . . . . . 0.5147059 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||MRPS15|mRNA|CODING|NM_031280|) . 0.0002 0.0003 . 0.0002 0.0003 . 0.2280 . . . . . . . . 1.934e-03 . . . 0 0.0018 0 0.0220 0.0008 0.0004 0 0.0009 0 0.0020 0 0.0224 0.0009 0.0004 0.0015 0.0008 . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.38 0.15 182 ENSG00000116898 MRPS15 MRPS15 . . . . . . 33 0.00050788 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150126875 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0020 0.0001 0.0001 0.0227 0.0008 0.0004 0.0009 0.0008 0 0.0012 0 0 0.0154 0 0.0007 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 . . rs150126875 rs150126875 1 1538 10 1/0 0,255,255 +rs34363849 1 36938060 A T - CSF3R 2439 Colony stimulating factor 3 receptor NM_156039.3 -1 3490 2592 NP_724781.1 substitution intron GRCh37 36938060 36938060 Chr1(GRCh37):g.36938060A>T 843+58 843+58 NM_156039.3:c.843+58T>A p.? p.? 7 7 138971 58 5' 82.1078 8.29716 0.747497 9.99782 82.1078 8.29716 0.747497 9.85947 0 rs34363849 yes no Frequency/1000G 2 A 0.000000 0 0.004193 0.000000 0.000000 0.020800 0.000000 0.000000 0.001360 0.000000 0.000000 0.000000 0.017968 0.000000 0.000736 0.000000 0.002041 0.017968 42 0 0 0 29 0 11 0 2 30888 8712 838 302 1614 0 14950 3492 980 0.023810 0.000000 0.000000 0.000000 0.034483 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 40 0 0 0 27 0 11 0 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T A T>A 0.000 -0.360 255 PASS . 0.01 . 0.03 . . 0.0042 . 0.021 . . . . . . . 0.4375 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . 0.0487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.53 0.42 182 ENSG00000119535 CSF3R CSF3R . . . . . . 33 0.00050788 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34363849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0014 0 0 0.0180 0 0.0007 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 rs34363849 rs34363849 rs34363849 rs34363849 1 1538 10 1/0 0,255,255 +rs201154276 1 39696961 C G - MACF1 13664 Microtubule-actin crosslinking factor 1 NM_012090.5 1 17689 16293 NP_036222.3 substitution intron GRCh37 39696961 39696961 Chr1(GRCh37):g.39696961C>G 282+46 282+46 NM_012090.5:c.282+46C>G p.? p.? 2 2 608271 46 5' 84.2838 9.45172 0.964747 5.558 84.2838 9.45172 0.964747 5.37801 0 rs201154276 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000745 0.000000 0.000000 0.000000 0.000000 0.000033 0.001392 0.000945 0.000776 0.001392 206 0 0 0 0 1 176 24 5 276356 24032 34342 10120 18866 30736 126406 25408 6446 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 204 0 0 0 0 1 174 24 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 79 transversion C G C>G 0.000 0.044 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||MACF1|mRNA|CODING|NM_012090|) . 0.0004 0.0006 . 0.0004 0.0006 . 0.1164 . . . . . . . . 6.788e-04 . . . 0 0.0005 0 0 0.0003 0.0010 0 6.071e-05 0 0.0005 0 0 0.0008 0.0009 0.0014 6.106e-05 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.28 0.21 182 ENSG00000127603 MACF1 MACF1 . . . . . . 37 0.000569441 64976 35 0.000583469 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201154276 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv870829 0.000384 . . . . . 0 0.0007 0 0 0 0.0009 0.0013 0.0002 3.254e-05 0 0.0014 0 0 0 0.0011 0.0023 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs201154276 rs201154276 1 1538 10 1/0 0,255,255 +rs140351948 1 39823593 G A - MACF1 13664 Microtubule-actin crosslinking factor 1 NM_012090.5 1 17689 16293 NP_036222.3 substitution intron GRCh37 39823593 39823593 Chr1(GRCh37):g.39823593G>A 5757+28 5757+28 NM_012090.5:c.5757+28G>A p.? p.? 39 39 608271 28 5' 94.6745 X.23 0.996343 7.47368 94.6745 X.23 0.996343 7.19552 0 rs140351948 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000088 0.000043 0.000033 0.000000 0.000000 0.000000 0.000127 0.000132 0.000361 0.000132 21 1 1 0 0 0 14 3 2 239316 23316 30158 6808 18180 22416 110182 22714 5542 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 1 0 0 0 14 3 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 3 0 3 0.000348918 0 0.000230698 0.000348918 0 0.000230698 27 transition G A G>A 0.000 0.125 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.45833334 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||MACF1|mRNA|CODING|NM_012090|) . 0.0002 0.0003 . 0.0002 0.0003 . 0.2215 . . . . . . . . 7.906e-05 . . . 0.0001 9.2e-05 0 0 0 0.0002 0 0 0.0001 9.884e-05 0 0 0.0002 0.0001 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.51 0.16 182 ENSG00000127603 MACF1 MACF1 . . . . . . 7 0.000107732 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140351948 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv870829 0.000231 . . . . . 6.854e-05 9.119e-05 3.411e-05 0 0 5.203e-05 0.0001 0.0004 0 0 6.458e-05 0 0 0 0.0006 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs140351948 rs140351948 1 1538 10 1/0 0,255,255 +rs150126878 1 40235409 G A - BMP8B 1075 Bone morphogenetic protein 8b NM_001720.4 -1 4822 1209 NP_001711.2 P34820 substitution intron GRCh37 40235409 40235409 Chr1(GRCh37):g.40235409G>A 673+4571 673+4571 NM_001720.4:c.673+4571C>T p.? p.? 3 3 602284 4571 5' 81.398 9.19553 0.681985 X.23 81.398 9.19553 0.681985 X.23 0 Cryptic Acceptor Strongly Activated 40235398 V.37 0.214227 75.0835 5.68954 0.238644 79.1854 rs150126878 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000859 0.000042 0.000029 0.000102 0.000000 0.000000 0.001574 0.001174 0.000939 0.001574 235 1 1 1 0 0 196 30 6 273620 23852 34250 9824 18830 30426 124488 25562 6388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 235 1 1 1 0 0 196 30 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 40 COSM140924 Upper aerodigestive tract 0.000803 1245 transition C T C>T 0.008 1.013 255 PASS . . . . . . 0.0004 . . 0.002 . ENSG00000198754:ENST00000327582:exon1:c.C1519T:p.P507S OXCT2:uc001ceb.1:exon1:c.C1519T:p.P507S OXCT2:NM_022120:exon1:c.C1519T:p.P507S . . 0.6283784 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.055 . @ . . . . . 1 0.096 . . 148.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . -0.7085 -0.766 -0.708 c . . . . . 8.287e-04 . . . 0 0.0007 0 0 0.0008 0.0014 0 0 0 0.0007 0 0 0.0010 0.0012 0.0016 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.921 . . exonic exonic exonic . . 0.224 0.0004 . . . 0.22 0.21 182 ENSG00000198754 OXCT2 OXCT2 . . . 0.004 0.104 . 32 0.00049249 64976 30 0.000500117 59986 Uncertain_significance . 0 . 0.559 . . . . D 0.657 0.054 . . 37 . 0.821 . . 0.669 . . . 0.646 0.213 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.189 . . 0.170 . . . . . . 1 0.148 . . . . . 0.275 . 0.362 . HET 0.09 rs150126878 . . . . . . ID\x3dCOSM140924\x3bOCCURENCE\x3d1(upper_aerodigestive_tract) . . . . . VII.84 0.0 ENST00000327582 2.V I.57 . 0.390000 . . . . 0.000384 . 0.262 . . . 0 0.0007 2.993e-05 0.0001 0 0.0011 0.0013 0.0002 0 0.0001 0.0020 0 0 0 0.0014 0.0035 0.0051 . . 0.550 . 0.597 0.597000 . . 0.390000 . . 1.0E-255 0.794 0.294 . 0.218 0.083 . 0.521 . 0.382 0.597 0.913 0.0006 . . rs150126878 rs150126878 1 1538 10 1/0 0,238,236 +rs150126878 1 40235409 G A - OXCT2 18606 3-oxoacid CoA transferase 2 NM_022120.1 -1 1824 1554 NP_071403.1 Q9BYC2 substitution missense exon GRCh37 40235409 40235409 Chr1(GRCh37):g.40235409G>A 1519 1519 NM_022120.1:c.1519C>T p.Pro507Ser p.Pro507Ser 1 610289 3-oxoacid CoA-transferase rs150126878 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000859 0.000042 0.000029 0.000102 0.000000 0.000000 0.001574 0.001174 0.000939 0.001574 235 1 1 1 0 0 196 30 6 273620 23852 34250 9824 18830 30426 124488 25562 6388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 235 1 1 1 0 0 196 30 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 40 COSM140924 Upper aerodigestive tract 0.000803 1245 transition C T C>T 0.008 1.013 P Pro CCG 0.115 S Ser TCG 0.056 507 12 6 Fruitfly -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.06 III.59 good 8.567E-2 0.03487 255 PASS . . . . . . 0.0004 . . 0.002 . ENSG00000198754:ENST00000327582:exon1:c.C1519T:p.P507S OXCT2:uc001ceb.1:exon1:c.C1519T:p.P507S OXCT2:NM_022120:exon1:c.C1519T:p.P507S . . 0.6283784 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.055 . @ . . . . . 1 0.096 . . 148.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . -0.7085 -0.766 -0.708 c . . . . . 8.287e-04 . . . 0 0.0007 0 0 0.0008 0.0014 0 0 0 0.0007 0 0 0.0010 0.0012 0.0016 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.921 . . exonic exonic exonic . . 0.224 0.0004 . . . 0.22 0.21 182 ENSG00000198754 OXCT2 OXCT2 . . . 0.004 0.104 . 32 0.00049249 64976 30 0.000500117 59986 Uncertain_significance . 0 . 0.559 . . . . D 0.657 0.054 . . 37 . 0.821 . . 0.669 . . . 0.646 0.213 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.189 . . 0.170 . . . . . . 1 0.148 . . . . . 0.275 . 0.362 . HET 0.09 rs150126878 . . . . . . ID\x3dCOSM140924\x3bOCCURENCE\x3d1(upper_aerodigestive_tract) . . . . . VII.84 0.0 ENST00000327582 2.V I.57 . 0.390000 . . . . 0.000384 . 0.262 . . . 0 0.0007 2.993e-05 0.0001 0 0.0011 0.0013 0.0002 0 0.0001 0.0020 0 0 0 0.0014 0.0035 0.0051 . . 0.550 . 0.597 0.597000 . . 0.390000 . . 1.0E-255 0.794 0.294 . 0.218 0.083 . 0.521 . 0.382 0.597 0.913 0.0006 . . rs150126878 rs150126878 1 1538 10 1/0 0,238,236 +rs6665926 (chr1:40533287 T/G) 1 40533287 T G Transcript NM_001105530.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) CAP1 +. 1 41503101 C CCGG - SCMH1 19003 Sex comb on midleg homolog 1 (Drosophila) NM_001031694.2 -1 3347 1983 NP_001026864.1 Q96GD3 duplication in-frame exon GRCh37 41503101 41503102 Chr1(GRCh37):g.41503102_41503104dup 1578 1580 NM_001031694.2:c.1578_1580dup p.Arg527dup p.Arg527dup 13 616396 -68 5' 82.206 7.78959 0.990189 III.51 82.206 7.78959 0.990189 4.16176 0 rs754438637 yes no Frequency 1 0.000000 0 0.000364 0.000000 0.000029 0.003645 0.000000 0.000000 0.000490 0.000000 0.000155 0.003645 101 0 1 37 0 0 62 0 1 277166 24036 34416 10152 18870 30782 126650 25794 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 0 1 37 0 0 62 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8251 4266 12517 3 0 3 0.00036346 0 0.000239617 0.00036346 0 0.000239617 178 CCG 255 Pass . . . . . . . . . . . . . . . . 0.4057971 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 69 . . . . 0.0002 0.0004 . 0.0002 0.0004 . . . . . . . . . . 4.025e-04 . . . 0 0.0004 0 0 0 0.0008 0 0 0 0.0003 0 0 0 0.0006 0 0 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000010803 SCMH1 SCMH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754438637 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv269066 0.000240 . . . . . 0 0.0004 2.978e-05 0.0037 0 0 0.0005 0 0 0 0.0003 0 0.0033 0 0 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . . . 1 1538 10 1.I 0,12,39 +. 1 41503101 C CCGG - SLFNL1-AS1 44126 SLFNL1 antisense RNA 1 NR_037868.1 1 4800 0 duplication intron GRCh37 41503104 41503105 Chr1(GRCh37):g.41503102_41503104dup 3993-616 3993-614 NR_037868.1:n.3993-616_3993-614dup p.? p.? 3 2 -613 3' 82.6257 8.30694 0.899179 7.03449 82.6257 8.30694 0.899179 7.03449 0 New Donor Site 41503106 1.95931 0.003396 60.1875 rs754438637 yes no Frequency 1 0.000000 0 0.000364 0.000000 0.000029 0.003645 0.000000 0.000000 0.000490 0.000000 0.000155 0.003645 101 0 1 37 0 0 62 0 1 277166 24036 34416 10152 18870 30782 126650 25794 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 0 1 37 0 0 62 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8251 4266 12517 3 0 3 0.00036346 0 0.000239617 0.00036346 0 0.000239617 178 CGG 255 Pass . . . . . . . . . . . . . . . . 0.4057971 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 69 . . . . 0.0002 0.0004 . 0.0002 0.0004 . . . . . . . . . . 4.025e-04 . . . 0 0.0004 0 0 0 0.0008 0 0 0 0.0003 0 0 0 0.0006 0 0 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000010803 SCMH1 SCMH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754438637 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv269066 0.000240 . . . . . 0 0.0004 2.978e-05 0.0037 0 0 0.0005 0 0 0 0.0003 0 0.0033 0 0 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . . . 1 1538 10 1.I 0,12,39 +rs754704393 1 43263751 C T - TMEM269 52381 Transmembrane protein 269 NM_001354602.1 1 3354 738 NP_001341531.1 substitution intron GRCh37 43263751 43263751 Chr1(GRCh37):g.43263751C>T 611-18 611-18 NM_001354602.1:c.611-18C>T p.? p.? 6 5 -18 3' 99.1575 XI.76 0.982064 9.90669 99.1575 12.0685 0.990204 9.88451 0.00698468 rs754704393 yes no Frequency 1 C 0.000000 0 0.000147 0.000064 0.000000 0.000474 0.000000 0.000000 0.000117 0.000639 0.000000 0.000639 26 1 0 4 0 0 8 13 0 176522 15570 24704 8442 11746 22592 68252 20334 4882 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 1 0 4 0 0 8 13 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.6122449 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . INTRON(MODIFIER||||LOC100129924|mRNA|CODING|NM_001242750|) . . . . . . . 0.2232 . . . . . . . . 2.416e-04 . . . 0 0.0002 0 0 0 0.0006 0 0 0 0.0001 0 0 0.0006 0.0002 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000164008 LOC100129924 LOC100129924 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754704393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0.0004 0 0.0008 0.0001 0 0 0.0001 0.0001 0 0.0033 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200782662 1 45476563 T C - HECTD3 26117 HECT domain containing 3 NM_024602.5 -1 3628 2586 NP_078878.3 Q5T447 substitution missense exon GRCh37 45476563 45476563 Chr1(GRCh37):g.45476563T>C 367 367 NM_024602.5:c.367A>G p.Lys123Glu p.Lys123Glu 1 -3 5' 78.7671 9.04567 0.912495 XI.49 76.0191 7.52496 0.801801 X.44 -0.108104 rs200782662 yes no Frequency 1 T 0.000000 0 0.000167 0.000046 0.000000 0.000000 0.000128 0.000000 0.000285 0.000078 0.000220 0.000285 33 1 0 0 2 0 28 1 1 197042 21596 21452 4690 15602 18048 98266 12840 4548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 1 0 0 2 0 28 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 1.000 2.788 K Lys AAG 0.575 E Glu GAG 0.583 123 12 8 Tetraodon 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Deleterious 0 IV.32 bad 8.693E-5 9.786E-5 255 PASS . . . . . . . . . . . ENSG00000126107:ENST00000372172:exon1:c.A367G:p.K123E HECTD3:uc009vxk.3:exon1:c.A367G:p.K123E HECTD3:NM_024602:exon1:c.A367G:p.K123E . . 0.3974359 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.450 . . 78.0 . . . . . . . . . . -0.2377 -0.062 -0.238 c . . . . . 1.838e-04 . . . 0.0001 0.0002 0 0 0 0.0003 0.0019 0 0.0001 0.0001 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.608 . . exonic exonic exonic . . 0.486 @ . . . 0.27 0.46 182 ENSG00000126107 HECTD3 HECTD3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.347 . . . . D 0.762 0.094 . . 37 . 0.364 . . 0.254 . . . 0.159 0.388 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.176 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.355 . . . . . 0.320 . 0.483 . HET 0.07 rs200782662 . . . . . . . . . . . . VIII.21 3.47E-4 ENST00000372172 4.II 4.II . 0.070000 Q5T447 0.1306 0.336 . . . 0.325 . . 4.II 7.751e-05 0.0002 0 0 0.0001 0 0.0003 0.0003 0 0 0.0002 0 0 0 0.0003 0.0003 0 . . 0.994 . 1.902 1.902000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.587 0.721 . 0.540 . 0.635 1.902 0.673 . . . rs200782662 rs200782662 1 1538 10 1/0 0,255,255 +rs200782662 1 45476563 T C - UROD 12591 Uroporphyrinogen decarboxylase NM_000374.4 1 1408 1104 NP_000365.3 P06132 substitution upstream GRCh37 45476563 45476563 Chr1(GRCh37):g.45476563T>C -1375 -1375 NM_000374.4:c.-1375T>C p.? p.? 1 613521 -1395 5' 83.6222 7.93332 0.944277 3.29665 83.6222 7.93332 0.944277 3.29665 0 rs200782662 yes no Frequency 1 T 0.000000 0 0.000167 0.000046 0.000000 0.000000 0.000128 0.000000 0.000285 0.000078 0.000220 0.000285 33 1 0 0 2 0 28 1 1 197042 21596 21452 4690 15602 18048 98266 12840 4548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 1 0 0 2 0 28 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 1.000 2.788 255 PASS . . . . . . . . . . . ENSG00000126107:ENST00000372172:exon1:c.A367G:p.K123E HECTD3:uc009vxk.3:exon1:c.A367G:p.K123E HECTD3:NM_024602:exon1:c.A367G:p.K123E . . 0.3974359 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.450 . . 78.0 . . . . . . . . . . -0.2377 -0.062 -0.238 c . . . . . 1.838e-04 . . . 0.0001 0.0002 0 0 0 0.0003 0.0019 0 0.0001 0.0001 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.608 . . exonic exonic exonic . . 0.486 @ . . . 0.27 0.46 182 ENSG00000126107 HECTD3 HECTD3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.347 . . . . D 0.762 0.094 . . 37 . 0.364 . . 0.254 . . . 0.159 0.388 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.176 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.355 . . . . . 0.320 . 0.483 . HET 0.07 rs200782662 . . . . . . . . . . . . VIII.21 3.47E-4 ENST00000372172 4.II 4.II . 0.070000 Q5T447 0.1306 0.336 . . . 0.325 . . 4.II 7.751e-05 0.0002 0 0 0.0001 0 0.0003 0.0003 0 0 0.0002 0 0 0 0.0003 0.0003 0 . . 0.994 . 1.902 1.902000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.587 0.721 . 0.540 . 0.635 1.902 0.673 . . . rs200782662 rs200782662 1 1538 10 1/0 0,255,255 +rs72679863 1 47014821 A G - KNCN 26488 Kinocilin NM_001322255.1 -1 2909 375 NP_001309184.1 A6PVL3 substitution intron GRCh37 47014821 47014821 Chr1(GRCh37):g.47014821A>G 295+44 295+44 NM_001322255.1:c.295+44T>C p.? p.? 3 3 611455 44 5' 99.6933 X.84 0.997759 X.13 99.6933 X.84 0.997759 X.71 0 rs72679863 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.682 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.5083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.24 0.23 182 ENSG00000269956 MKNK1-AS1 MKNK1-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs72679863 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . rs72679863 rs72679863 rs72679863 1 1538 10 1/0 0,251,255 +rs72679863 1 47014821 A G - MKNK1-AS1 44129 MKNK1 antisense RNA 1 NR_038403.1 1 2445 0 substitution intron GRCh37 47014821 47014821 Chr1(GRCh37):g.47014821A>G 254+5381 254+5381 NR_038403.1:n.254+5381A>G p.? p.? 3 3 5381 5' 94.2214 9.88355 0.998289 XII.66 94.2214 9.88355 0.998289 XII.66 0 New Acceptor Site 47014822 0.197997 2,00E-06 61.5132 rs72679863 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.5083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.24 0.23 182 ENSG00000269956 MKNK1-AS1 MKNK1-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs72679863 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . rs72679863 rs72679863 rs72679863 1 1538 10 1/0 0,251,255 +rs747482535 1 47610117 C T - CYP4A22 20575 Cytochrome P450, family 4, subfamily A, polypeptide 22 NM_001010969.3 1 1678 1560 NP_001010969.2 Q5TCH4 substitution synonymous exon GRCh37 47610117 47610117 Chr1(GRCh37):g.47610117C>T 879 879 NM_001010969.3:c.879C>T p.Asp293= p.Asp293Asp 7 615341 -19 5' 83.1949 8.39958 0.988548 4.75849 83.1949 8.39958 0.988548 4.00224 0 Cytochrome P450 rs747482535 yes no Frequency 1 C 0.000000 0 0.000007 0.000042 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000042 2 1 0 0 0 0 1 0 0 276610 23946 34402 10150 18840 30780 126268 25770 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3360938|COSM3360938 Liver|Kidney 0.000422|0.001157 2371|1729 transition C T C>T 1.000 0.609 D Asp GAC 0.539 D Asp GAT 0.461 293 178 PASS . . . . . . . . . . . ENSG00000162365:ENST00000371890:exon6:c.C724T:p.H242Y CYP4A22:uc009vyp.3:exon6:c.C724T:p.H242Y CYP4A22:NM_001308102:exon6:c.C724T:p.H242Y . . 0.10909091 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.139 . @ . . . . . 1 0.286 . . 220.0 . . . . . . . . . . -0.4748 -0.492 -0.475 c . . . . . 7.892e-06 . . . 9.626e-05 1.102e-05 0 0 0 0 0 0 0.0001 9.418e-06 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.729 . . exonic exonic exonic . . 0.220 @ . . . 0.18 0.16 182 ENSG00000162365 CYP4A22 CYP4A22 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.075 0.003 . . 37 . 0.548 . . 0.449 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.800 . . 0 0 0 0 0 0 . 0.299 . . 0.335 . . . . . . 0 0.373 . . . . . 0.133 . . . LowAF 0.09 rs747482535 . . . . . . ID\x3dCOSM3360938\x3bOCCURENCE\x3d2(kidney) . . . . . IV.77 . ENST00000371890 I.51 I.51 . 0.300000 Q5TCH5 . . Name\x3ddgv221n71 . . 0.306 . . . 6.534e-05 4.067e-06 0 0 0 0 0 0 0 0 3.255e-05 0 0 0 0 6.712e-05 0 . . 0.185 . 0.842 0.842000 . . 0.300000 . . 1.0E-178 1.000 0.715 . 0.240 0.995 . 0.273 . 0.284 0.842 0.666 . rs12754799 rs12754799 rs12754799 rs12754799 1 1538 10 1/0 0,193,255 +rs145909683 1 47904167 G A - FOXD2 3803 Forkhead box D2 NM_004474.3 1 4675 1488 NP_004465.3 O60548 substitution synonymous exon GRCh37 47904167 47904167 Chr1(GRCh37):g.47904167G>A 360 360 NM_004474.3:c.360G>A p.Ala120= p.Ala120Ala 1 602211 rs145909683 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.001466 0.000294 0.000527 0.000639 0.000000 0.000107 0.002462 0.001640 0.001806 0.002462 362 6 16 6 0 3 283 38 10 246954 20400 30388 9390 15188 27936 114948 23168 5536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 362 6 16 6 0 3 283 38 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4404 12987 17 2 19 0.00197674 0.000453926 0.00146086 0.00197674 0.000453926 0.00146086 20 transition G A G>A 0.008 -0.037 A Ala GCG 0.107 A Ala GCA 0.226 120 255 PASS . 0.0018 0.01 . 0.0013 . 0.001 0.0043 . 0.002 . ENSG00000186564:ENST00000334793:exon1:c.G360A:p.A120A FOXD2:uc001crm.3:exon1:c.G360A:p.A120A FOXD2:NM_004474:exon1:c.G360A:p.A120A . . 0.5090909 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 55.0 . . . 0.0005 0.0015 0.002 0.0005 0.0015 0.002 . I.19 . . . . . . . . 1.430e-03 . . . 0.0003 0.0014 0.0004 0 0.0024 0.0028 0 0.0001 0.0003 0.0015 0.0004 0 0.0018 0.0025 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.31 0.38 182 ENSG00000186564 FOXD2 FOXD2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145909683 . . . . . . . . . . . . . . . . . . . . . . . 0.001461 . . . . . 0.0003 0.0015 0.0005 0.0007 0 0.0016 0.0026 0.0021 0.0001 0.0002 0.0012 0.0022 0 0 0.0032 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145909683 rs145909683 1 1538 10 1/0 0,255,255 +rs145909683 1 47904167 G A - LINC01389 50661 Long intergenic non-protein coding RNA 1389 NR_126355.1 -1 861 0 substitution upstream GRCh37 47904167 47904167 Chr1(GRCh37):g.47904167G>A -1178 -1178 NR_126355.1:n.-1178C>T p.? p.? 1 -1206 5' 87.2541 7.65636 0.561322 9.09697 87.2541 7.65636 0.561322 9.09697 0 rs145909683 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.001466 0.000294 0.000527 0.000639 0.000000 0.000107 0.002462 0.001640 0.001806 0.002462 362 6 16 6 0 3 283 38 10 246954 20400 30388 9390 15188 27936 114948 23168 5536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 362 6 16 6 0 3 283 38 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4404 12987 17 2 19 0.00197674 0.000453926 0.00146086 0.00197674 0.000453926 0.00146086 20 transition C T C>T 0.008 -0.037 255 PASS . 0.0018 0.01 . 0.0013 . 0.001 0.0043 . 0.002 . ENSG00000186564:ENST00000334793:exon1:c.G360A:p.A120A FOXD2:uc001crm.3:exon1:c.G360A:p.A120A FOXD2:NM_004474:exon1:c.G360A:p.A120A . . 0.5090909 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 55.0 . . . 0.0005 0.0015 0.002 0.0005 0.0015 0.002 . I.19 . . . . . . . . 1.430e-03 . . . 0.0003 0.0014 0.0004 0 0.0024 0.0028 0 0.0001 0.0003 0.0015 0.0004 0 0.0018 0.0025 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.31 0.38 182 ENSG00000186564 FOXD2 FOXD2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145909683 . . . . . . . . . . . . . . . . . . . . . . . 0.001461 . . . . . 0.0003 0.0015 0.0005 0.0007 0 0.0016 0.0026 0.0021 0.0001 0.0002 0.0012 0.0022 0 0 0.0032 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145909683 rs145909683 1 1538 10 1/0 0,255,255 +rs143626823 1 52082881 C T - OSBPL9 16386 Oxysterol binding protein like 9 NM_148909.3 1 3908 2241 NP_683707.3 substitution synonymous exon GRCh37 52082881 52082881 Chr1(GRCh37):g.52082881C>T 99 99 NM_148909.3:c.99C>T p.Leu33= p.Leu33Leu 1 606737 -13 5' 86.4167 XI.33 0.995223 XI.94 86.4167 XI.33 0.995223 X.66 0 Pleckstrin homology domain rs143626823 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000800 0.001000 0.000000 0.005000 0.002900 0.004548 0.001273 0.004925 0.000894 0.000000 0.002599 0.006718 0.003599 0.004229 0.006718 1242 30 167 9 0 78 839 92 27 273112 23572 33906 10070 18722 30006 124886 25566 6384 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 1236 30 167 9 0 78 835 90 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8348 4102 12450 54 4 58 0.00642704 0.000974184 0.00463703 0.00642704 0.000974184 0.00463703 78 transition C T C>T 0.291 -1.328 L Leu CTC 0.197 L Leu CTT 0.129 33 255 PASS . 0.0023 0.0028 . 0.01 0.0008 0.0018 0.0029 . 0.005 0.001 . . . . . 0.48453608 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . . 0.001 0.0046 0.0064 0.001 0.0046 0.0064 . I.99 . . . . . . . . 4.008e-03 . . . 0.0005 0.0052 0.0063 0 0.0019 0.0077 0.0071 0.0029 0.0006 0.0047 0.0065 0 0.0037 0.0063 0.0037 0.0029 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.61 0.49 182 ENSG00000117859 OSBPL9 OSBPL9 . . . . . . 436 0.00671017 64976 427 0.00711833 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143626823 . . . . . . . . . . . . . . . . . . . . . . . 0.004637 . . . . . 0.0008 0.0046 0.0049 0.0009 0 0.0036 0.0067 0.0050 0.0026 0.0021 0.0043 0.0048 0 0 0.0037 0.0065 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs143626823 rs143626823 1 1538 10 1/0 0,255,255 +rs182127561 1 53459055 C T - SCP2 10606 Sterol carrier protein 2 NM_002979.4 1 2725 1644 NP_002970.2 P22307 substitution intron GRCh37 53459055 53459055 Chr1(GRCh37):g.53459055C>T 1081+5247 1081+5247 NM_002979.4:c.1081+5247C>T p.? p.? 11 11 184755 5247 5' 82.5885 9.42864 0.959161 1.36347 82.5885 9.42864 0.959161 1.36347 0 rs182127561 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.003000 0.004300 0.002971 0.000115 0.001193 0.003311 0.002472 0.000000 0.001133 0.017459 0.007128 0.017459 92 1 1 1 4 0 17 61 7 30968 8726 838 302 1618 0 15008 3494 982 0.010870 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.016393 0.000000 1 0 0 0 0 0 0 1 0 90 1 1 1 4 0 17 59 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 1.000 0.367 255 PASS . 0.0023 0.01 . 0.004 . 0.0012 0.0043 . 0.003 . . . . . . 0.4057971 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.1323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5\x3bUTR3 UTR3 . . . 0.0012 . . . 0.47 0.57 182 ENSG00000236360 SCP2\x3bSCP2 SCP2 . uc001cus.2:c.-21638C>T\x3buc001cuq.2:c.*106C>T NM_001007098:c.*106C>T . . . 168 0.00258557 64976 162 0.00270063 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs182127561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0030 0.0012 0.0033 0.0025 0.0175 0.0011 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs182127561 rs182127561 1 1538 10 1/0 0,255,255 +rs767203305 1 53728283 C T - LRP8 6700 Low density lipoprotein receptor-related protein 8, apolipoprotein e receptor NM_004631.4 -1 7783 2892 NP_004622.2 Q14114 substitution intron GRCh37 53728283 53728283 Chr1(GRCh37):g.53728283C>T 1656-47 1656-47 NM_004631.4:c.1656-47G>A p.? p.? 11 10 602600 -47 3' 91.4847 X.78 0.986117 5.499 91.4847 X.78 0.986117 V.19 0 rs767203305 yes no Frequency 1 C 0.000000 0 0.000037 0.000000 0.000000 0.000000 0.000000 0.000033 0.000045 0.000147 0.000000 0.000147 9 0 0 0 0 1 5 3 0 243054 15168 33510 9738 17202 30678 110916 20404 5438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 0 0 1 5 3 0 0 0 0 0 0 0 0 0 0 PASS 113 Exomes transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.60294116 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . 0.0062 . . . . . . . . 2.368e-05 . . . 0 1.116e-05 0 0 0 2.411e-05 0 0 0 1.897e-05 0 0 0 3.705e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000157193 LRP8 LRP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs767203305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.703e-05 0 0 0 0.0001 4.508e-05 0 3.26e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs41313377 1 54301186 T C - NDC1 25525 NDC1 transmembrane nucleoporin NM_018087.4 -1 4826 2025 NP_060557.3 Q9BTX1 substitution missense exon GRCh37 54301186 54301186 Chr1(GRCh37):g.54301186T>C 165 165 NM_018087.4:c.165A>G p.Ile55Met p.Ile55Met 2 610115 -14 5' 81.4083 8.36849 0.635323 0 81.4083 8.36849 0.635323 0 0 Nucleoporin protein Ndc1-Nup rs41313377 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003000 0.000000 0.000000 0.009900 0.002900 0.008055 0.002373 0.004171 0.000987 0.000000 0.000425 0.011406 0.019596 0.008834 0.019596 2228 57 143 10 0 13 1443 505 57 276590 24016 34282 10130 18848 30580 126512 25770 6452 0.000094 0.000000 0.000058 0.000000 0.000000 0.000000 0.000095 0.000466 0.000000 13 0 1 0 0 0 6 6 0 2202 57 141 10 0 13 1431 493 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8502 4394 12896 98 12 110 0.0113953 0.00272356 0.00845763 0.0113953 0.00272356 0.00845763 72 transition A G A>G 0.992 -0.037 I Ile ATA 0.163 M Met ATG 1.000 55 12 9 C. elegans 2 1 2 0 0 5.II 5.VII 111 105 10 C0 96.19 0.00 Tolerated 0.07 II.96 good 5.949E-2 0.01504 255 PASS 0.002 0.0046 0.0028 . 0.01 0.003 0.0032 0.0029 . 0.0099 . . . . . . 0.50666666 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.635 . @ . . . . . 1 0.600 . . 75.0 . . . 0.0027 0.0085 0.011 0.0027 0.0085 0.011 . 0.1971 0.155 0.197 c . . . . . 8.611e-03 . . . 0.0022 0.0065 0.0034 0 0.0197 0.0104 0.0056 0.0005 0.0022 0.0083 0.0035 0 0.0197 0.0126 0.0043 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.488 . . exonic exonic exonic . . 0.232 0.0032 . . . 0.33 0.38 182 ENSG00000058804 NDC1 NDC1 . . . 1.000 0.747 . 645 0.00992674 64976 631 0.0105191 59986 Likely_benign . 0 . 0.320 . . . . . . . . . 37 . 0.409 . . 0.411 . . . 0.597 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.524 . . 0.592 . . . . . . 1 0.599 . . . . . 0.041 . 0.234 . HET 0.03 rs41313377 . . . . . . . 0.004578754578754579 0.0020325203252032522 0.0027624309392265192 0.0 0.010554089709762533 II.87 0.002943 . V.34 1.VII . 0.130000 . . . . 0.008458 . 0.294 . . . 0.0023 0.0080 0.0042 0.0010 0 0.0195 0.0115 0.0080 0.0004 0.0025 0.0089 0.0048 0 0 0.0203 0.0110 0.0133 . . 0.924 . 0.332 0.332000 . . 0.130000 . . 1.0E-255 0.995 0.385 . 0.697 0.969 . 0.167 . 0.158 0.332 -0.539 0.011 rs41313377 rs41313377 rs41313377 rs41313377 1 1538 10 1/0 0,255,255 +. 1 55277810 CT C - LEXM 26854 Lymphocyte expansion molecule NM_001110533.1 1 1702 1257 NP_001104003.1 Q3ZCV2 deletion frameshift exon GRCh37 55277813 55277813 Chr1(GRCh37):g.55277813del 713 713 NM_001110533.1:c.713del p.Phe238Serfs*24 p.Phe238Serfs*24 6 616446 -50 5' 85.464 6.99123 0.973926 8.38764 85.464 6.99123 0.973926 7.87753 0 T 255 Pass . . . . . . . . . . . . . . . . 0.51758796 . . . 103 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000162398 C1orf177 LEXM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,29 +rs375372678 1 62995012 G C - DOCK7 19190 Dedicator of cytokinesis 7 NM_001271999.1 -1 7182 6390 NP_001258928.1 substitution synonymous exon GRCh37 62995012 62995012 Chr1(GRCh37):g.62995012G>C 3717 3717 NM_001271999.1:c.3717C>G p.Ala1239= p.Ala1239Ala 30 615730 -65 5' 76.5187 8.15953 0.863499 0 76.5187 8.15953 0.863499 0 0 rs375372678 yes no Frequency 1 G 0.000000 0 0.000163 0.000000 0.000000 0.000000 0.000000 0.000000 0.000285 0.000310 0.000155 0.000310 45 0 0 0 0 0 36 8 1 276586 24018 34234 10142 18828 30742 126390 25776 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 0 0 0 0 0 36 8 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 98 transversion C G C>G 1.000 0.690 A Ala GCC 0.403 A Ala GCG 0.107 1239 255 PASS . . . . . . . . . . . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.1946 . . . . . . . . 1.263e-04 . . . 0 9.937e-05 0 0 0.0005 0.0002 0 0 0 0.0001 0 0 0.0003 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.29 182 ENSG00000116641 DOCK7 DOCK7 . . . . . . 5 7.69515e-05 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375372678 . . . . . . . . . . . . II.95 0.0 ENST00000454575 V.84 I.79 . . . . . . 0.000154 . . . . . 0 0.0001 0 0 0 0.0003 0.0002 0.0002 0 0 0.0005 0 0 0 0.0003 0.0009 0 . . . . 0.066 0.066000 . . . . . 1.0E-255 . . . . . . . . . 0.066 . 0.0002 . . rs375372678 . 1 1538 10 1/0 0,255,255 +rs183174463 1 67401626 T C - MIER1 29657 MIER1 transcriptional regulator NM_001350530.1 1 5662 1809 NP_001337459.1 substitution intron GRCh37 67401626 67401626 Chr1(GRCh37):g.67401626T>C 243-4085 243-4085 NM_001350530.1:c.243-4085T>C p.? p.? 4 3 616848 -4085 3' 80.9161 9.18237 0.973148 2.31274 80.9161 9.18237 0.973148 2.31274 0 rs183174463 yes no Frequency/1000G 2 T 0.000000 0 0.014177 0.000000 0.055200 0.002000 0.007000 0.011500 0.005007 0.001584 0.007772 0.018382 0.000000 0.000000 0.007719 0.001873 0.008830 0.018382 143 13 6 5 0 0 105 6 8 28560 8208 772 272 1596 0 13602 3204 906 0.006993 0.000000 0.000000 0.000000 0.000000 0.000000 0.009524 0.000000 0.000000 1 0 0 0 0 0 1 0 0 141 13 6 5 0 0 103 6 8 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.024 1.013 255 PASS . 0.0032 0.02 . . . 0.014 0.011 0.002 0.007 0.055 . . . . . 0.47560975 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . 0.3806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0142 . . . 0.38 0.3 182 ENSG00000198160 MIER1 MIER1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183174463 0.022 0.014 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv871720 . . . . . 3.I . . . . . . . . . 0.0016 0.0050 0.0078 0.0184 0 0.0019 0.0077 0.0088 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs183174463 rs183174463 1 1538 10 1/0 0,255,255 +rs142887352 1 67559041 T C - C1orf141 32044 Chromosome 1 open reading frame 141 NM_001276351.1 -1 2177 1203 NP_001263280.1 Q5JVX7 substitution missense exon GRCh37 67559041 67559041 Chr1(GRCh37):g.67559041T>C 850 850 NM_001276351.1:c.850A>G p.Met284Val p.Met284Val 8 247 3' 94.2538 X.29 0.978343 6.15369 94.2538 X.29 0.978343 6.15369 0 Cryptic Acceptor Strongly Activated 67559028 6.99019 0.12603 79.5869 8.51289 0.168899 79.5869 rs142887352 yes no Frequency/1000G 2 T 0.000000 0 0.001931 0.000458 0.000349 0.000000 0.000000 0.000358 0.003579 0.001319 0.002167 0.003579 535 11 12 0 0 11 453 34 14 277024 24024 34416 10148 18866 30766 126572 25772 6460 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 531 11 12 0 0 11 449 34 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8574 4404 12978 24 2 26 0.00279135 0.000453926 0.00199938 0.00279135 0.000453926 0.00199938 91 transition A G A>G 0.000 0.286 M Met ATG 1.000 V Val GTG 0.468 284 11 4 Rabbit 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 252.82 0.00 Tolerated 0.24 III.19 255 PASS 0.002 0.0005 . . . . . . . . . . C1orf141:uc001ddm.2:exon8:c.A850G:p.M284V C1orf141:NM_001276351:exon8:c.A850G:p.M284V . . 0.5084746 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.015 . . 59.0 . . . 0.0005 0.002 0.0028 0.0005 0.002 0.0028 . -1.3213 -1.404 -1.321 c . . . . . 1.926e-03 . . . 0.0007 0.0014 0.0003 0 0.0003 0.0025 0.0014 0.0005 0.0007 0.0018 0.0002 0 0.0011 0.0032 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.270 . . exonic exonic exonic . . 0.146 0.0008 . . . 0.33 0.76 182 ENSG00000203963 C1orf141 C1orf141 . . . 0.015 0.126 . 86 0.00132357 64976 85 0.001417 59986 Uncertain_significance . 0 . 0.027 . . . . T 0.013 0.001 . . 37 . 0.039 . . 0.282 . . . 0.112 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.100 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 0.066 . . . . . . . 0.385 . HET 0.55 rs142887352 . . . . . . . 4.578754578754579E-4 0.0020325203252032522 0.0 0.0 0.0 . 8.03E-4 . 0.235 0.235 . 0.440000 Q5JVX7 . . . 0.001999 . 0.062 . . . 0.0006 0.0019 0.0003 0 0 0.0013 0.0036 0.0020 0.0004 0.0002 0.0020 0.0012 0 0 0.0011 0.0035 0.0031 . . 0.185 . 0.263 0.263000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.055 . 0.001 0.263 0.158 0.0028 . . rs142887352 rs142887352 1 1538 10 1/0 0,255,255 +rs529928638 1 74716511 T C - FPGT-TNNI3K 42952 FPGT-TNNI3K readthrough NM_001112808.2 1 3328 2850 NP_001106279.2 substitution intron GRCh37 74716511 74716511 Chr1(GRCh37):g.74716511T>C 675+58 675+58 NM_001112808.2:c.675+58T>C p.? p.? 6 6 58 5' 84.2838 9.45172 0.945819 0.978396 84.2838 9.45172 0.945819 1.0012 0 rs529928638 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001967 0.000126 0.000000 0.000000 0.000000 0.000000 0.002486 0.007432 0.001263 0.007432 52 1 0 0 0 0 32 18 1 26440 7944 632 280 1496 0 12874 2422 792 0.019231 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.055556 0.000000 1 0 0 0 0 0 0 1 0 50 1 0 0 0 0 32 16 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition T C T>C 0.000 0.125 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.2173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs529928638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . 0.0001 0.0020 0 0 0 0.0074 0.0025 0.0013 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs529928638 1 74716511 T C - TNNI3K 19661 TNNI3 interacting kinase NM_015978.2 1 3023 2508 NP_057062.1 Q59H18 substitution intron GRCh37 74716511 74716511 Chr1(GRCh37):g.74716511T>C 333+58 333+58 NM_015978.2:c.333+58T>C p.? p.? 4 4 613932 58 5' 84.2838 9.45172 0.945819 0.978396 84.2838 9.45172 0.945819 1.0012 0 rs529928638 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001967 0.000126 0.000000 0.000000 0.000000 0.000000 0.002486 0.007432 0.001263 0.007432 52 1 0 0 0 0 32 18 1 26440 7944 632 280 1496 0 12874 2422 792 0.019231 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.055556 0.000000 1 0 0 0 0 0 0 1 0 50 1 0 0 0 0 32 16 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition T C T>C 0.000 0.125 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.2173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs529928638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . 0.0001 0.0020 0 0 0 0.0074 0.0025 0.0013 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs183470977 1 78195476 A C - USP33 20059 Ubiquitin specific peptidase 33 NM_015017.4 -1 4533 2829 NP_055832.3 Q8TEY7 substitution intron GRCh37 78195476 78195476 Chr1(GRCh37):g.78195476A>C 810+69 810+69 NM_015017.4:c.810+69T>G p.? p.? 10 10 615146 69 5' 90.1244 8.02288 0.945488 0 90.1244 8.02288 0.945488 0 0 rs183470977 yes no Frequency/1000G 2 A 0.000000 0 0.002995 0.000000 0.000000 0.000000 0.010900 0.005800 0.007764 0.001721 0.003580 0.013245 0.000000 0.000000 0.010407 0.015589 0.008180 0.015589 240 15 3 4 0 0 156 54 8 30910 8716 838 302 1622 0 14990 3464 978 0.008333 0.000000 0.000000 0.000000 0.000000 0.000000 0.012821 0.000000 0.000000 2 0 0 0 0 0 2 0 0 236 15 3 4 0 0 152 54 8 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T G T>G 0.000 -1.328 255 PASS . 0.01 0.01 . 0.01 . 0.003 0.0058 . 0.011 . . . . . . 0.5 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.0329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.43 0.09 182 ENSG00000077254 USP33 USP33 . . . . . . 630 0.00969589 64976 615 0.0102524 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183470977 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0078 0.0036 0.0132 0 0.0156 0.0104 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs183470977 rs183470977 1 1538 10 1/0 0,255,255 +rs148330006 1 86048526 C G - CYR61 2654 Cysteine-rich, angiogenic inducer, 61 NM_001554.4 1 2295 1146 NP_001545.2 O00622 substitution missense exon GRCh37 86048526 86048526 Chr1(GRCh37):g.86048526C>G 947 947 NM_001554.4:c.947C>G p.Ser316Cys p.Ser316Cys 5 602369 104 3' 90.8775 XI.93 0.981553 13.8474 90.8775 XI.93 0.981553 13.8474 0 Cystine knot Cystine knot, C-terminal IGFBP-related, CNN rs148330006 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000800 0.003100 0.000000 0.006000 0.005800 0.004690 0.001124 0.003138 0.001379 0.000000 0.002956 0.007364 0.003722 0.004793 0.007364 1300 27 108 14 0 91 933 96 31 277212 24028 34418 10150 18870 30780 126706 25792 6468 0.000036 0.000000 0.000174 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 5 0 3 0 0 0 2 0 0 1290 27 102 14 0 91 929 96 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4400 12943 57 6 63 0.00662791 0.00136178 0.00484392 0.00662791 0.00136178 0.00484392 54 transversion C G C>G 0.913 2.304 S Ser TCC 0.220 C Cys TGC 0.552 316 14 12 Frog -1 -1 -2 I.42 II.75 9.II 5.V 32 55 112 C15 141.06 100.56 Deleterious 0.03 III.66 bad 2.694E-3 0.02362 255 PASS . 0.0027 0.0028 . 0.01 0.0008 0.0028 0.0058 . 0.006 0.0031 ENSG00000142871:ENST00000451137:exon5:c.C947G:p.S316C CYR61:uc001dle.3:exon5:c.C947G:p.S316C CYR61:NM_001554:exon5:c.C947G:p.S316C . . 0.49565217 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.658 . @ . . . . . 1 0.435 . . 115.0 . . . 0.0014 0.0048 0.0066 0.0014 0.0048 0.0066 . 0.6291 0.577 0.629 c . . . . . 4.633e-03 . . . 0.0017 0.0043 0.0033 0 0.0039 0.0066 0.0042 0.0027 0.0019 0.0045 0.0032 0 0.0036 0.0065 0.0029 0.0027 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.421 . . exonic exonic exonic . . 0.416 0.0028 . . . 0.52 0.58 182 ENSG00000142871 CYR61 CYR61 . . . 1.000 0.747 . 420 0.00646393 64976 406 0.00676825 59986 Uncertain_significance . 0 . 0.523 . . . . T 0.350 0.015 . . 37 . 0.547 . . 0.578 . . . 0.761 0.465 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.344 . . 0 0 0 0 0 0 . 0.629 . . 0.671 . . . . . . 0 0.405 . . . . . 0.620 . 0.596 . HET 0.15 rs148330006 . . . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 13.7182 0.001605 . V.67 III.71 . 0.030000 O00622 . . . 0.004844 . 0.291 . . III.71 0.0013 0.0047 0.0032 0.0014 0 0.0036 0.0074 0.0051 0.0030 0.0008 0.0045 0.0024 0 0 0.0046 0.0073 0.0031 . . 0.401 . 2.659 2.659000 . . 0.030000 . . 1.0E-255 0.934 0.322 . 0.587 0.979 . 0.510 . 0.430 2.659 -0.058 0.01 . . rs148330006 rs148330006 1 1538 10 1/0 0,254,255 +. 1 89427037 CTG C - KYAT3 33238 Kynurenine aminotransferase 3 NM_001008661.2 -1 2152 1365 NP_001008661.1 Q6YP21 deletion intron GRCh37 89427038 89427039 Chr1(GRCh37):g.89427038_89427039del 666+25 666+26 NM_001008661.2:c.666+25_666+26del p.? p.? 7 7 610656 25 5' 93.9148 X.81 0.997948 1.96071 93.9148 X.81 0.997948 I.31 0 Cryptic Acceptor Strongly Activated 89427036 4.93758 0.156906 83.44 6.34318 0.691865 79.4406 rs767531553 yes no Frequency 1 0.000000 0 0.000057 0.000000 0.000000 0.000000 0.000000 0.000000 0.000117 0.000000 0.000183 0.000117 14 0 0 0 0 0 13 0 1 245562 15298 33558 9824 17246 30738 111212 22216 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 13 0 1 0 0 0 0 0 0 0 0 0 PASS 65 Exomes CA 255 Pass . . . . . . . . . . . . . . . . 0.5 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 68 . . . . . . . . . . . . . . . . . . . 3.157e-05 . . . 0 2.205e-05 0 0 0 4.749e-05 0 0 0 2.826e-05 0 0 0 5.523e-05 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000137944 CCBL2 CCBL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs767531553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.701e-05 0 0 0 0 0.0001 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,30 +rs769631444 1 89448608 G A - KYAT3 33238 Kynurenine aminotransferase 3 NM_001008661.2 -1 2152 1365 NP_001008661.1 Q6YP21 substitution intron GRCh37 89448608 89448608 Chr1(GRCh37):g.89448608G>A 99+5327 99+5327 NM_001008661.2:c.99+5327C>T p.? p.? 2 2 610656 5327 5' 65.3354 3.40869 0.092044 0 65.3354 3.40869 0.092044 0 0 rs769631444 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000029 1 0 1 0 0 0 0 0 0 276304 23838 34378 10128 18826 30772 126160 25760 6442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3773519 Kidney 0.000578 1729 transition C T C>T 1.000 1.497 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.462 . @ . . . . . 1 0.419 . . 58.0 . . . . . . . . . . -0.1183 -0.144 -0.118 c . . . . . 1.673e-03 . . . 0.0048 0.0017 0.0012 0.0004 0.0003 0.0020 0.0014 0.0002 0.0047 0.0015 0.0013 0.0009 0.0005 0.0016 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.780 . . exonic exonic exonic . . 0.136 @ . . . . . . ENSG00000213516 RBMXL1 RBMXL1 . . . 0.997 0.349 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.423 0.020 . . 37 . 0.518 . . 0.552 . . . 0.552 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.827 . . 0 0 0 0 0 0 . 0.341 . . 0.205 . . . . . . 2 0.361 . . . . . 0.197 . 0.193 . LowAF 0.28 rs769631444 . . . . . . . . . . . . VI.27 . . I.41 0.0579 . 0.070000 Q96E39 . . Name\x3ddgv68e1 . . 0.315 . . . 0 4.072e-06 2.981e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.730 . 0.760 0.760000 . . 0.070000 . . 1.0E-183 1.000 0.715 . 0.246 0.999 . 0.639 . 0.035 0.760 0.589 . . . . . 1 1538 10 1/0 0,251,255 +rs769631444 1 89448608 G A - RBMXL1 25073 RNA binding motif protein, X-linked-like 1 NM_019610.5 -1 4987 1173 NP_062556.2 substitution missense exon GRCh37 89448608 89448608 Chr1(GRCh37):g.89448608G>A 902 902 NM_019610.5:c.902C>T p.Pro301Leu p.Pro301Leu 2 1142 3' 87.2193 8.99995 0.844295 V.42 87.2193 8.99995 0.844295 V.42 0 rs769631444 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000029 1 0 1 0 0 0 0 0 0 276304 23838 34378 10128 18826 30772 126160 25760 6442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3773519 Kidney 0.000578 1729 transition C T C>T 1.000 1.497 P Pro CCG 0.115 L Leu CTG 0.404 301 11 9 Tetraodon -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 131.32 56.87 Tolerated 0.16 III.51 good 1.267E-1 0.5255 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.462 . @ . . . . . 1 0.419 . . 58.0 . . . . . . . . . . -0.1183 -0.144 -0.118 c . . . . . 1.673e-03 . . . 0.0048 0.0017 0.0012 0.0004 0.0003 0.0020 0.0014 0.0002 0.0047 0.0015 0.0013 0.0009 0.0005 0.0016 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.780 . . exonic exonic exonic . . 0.136 @ . . . . . . ENSG00000213516 RBMXL1 RBMXL1 . . . 0.997 0.349 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.423 0.020 . . 37 . 0.518 . . 0.552 . . . 0.552 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.827 . . 0 0 0 0 0 0 . 0.341 . . 0.205 . . . . . . 2 0.361 . . . . . 0.197 . 0.193 . LowAF 0.28 rs769631444 . . . . . . . . . . . . VI.27 . . I.41 0.0579 . 0.070000 Q96E39 . . Name\x3ddgv68e1 . . 0.315 . . . 0 4.072e-06 2.981e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.730 . 0.760 0.760000 . . 0.070000 . . 1.0E-183 1.000 0.715 . 0.246 0.999 . 0.639 . 0.035 0.760 0.589 . . . . . 1 1538 10 1/0 0,251,255 +rs141468346 1 89448623 A G - KYAT3 33238 Kynurenine aminotransferase 3 NM_001008661.2 -1 2152 1365 NP_001008661.1 Q6YP21 substitution intron GRCh37 89448623 89448623 Chr1(GRCh37):g.89448623A>G 99+5312 99+5312 NM_001008661.2:c.99+5312T>C p.? p.? 2 2 610656 5312 5' 65.3354 3.40869 0.092044 0 65.3354 3.40869 0.092044 0 0 rs141468346 yes no Frequency 1 0.000000 0 0.000018 0.000170 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000170 5 4 0 0 0 0 1 0 0 274658 23478 34052 10098 18754 30712 125426 25720 6418 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3769031|COSM3769031 Skin|Pancreas 0.000812|0.001706 1232|1758 transition T C T>C 1.000 1.981 189 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.131 . . 52.0 . . . . . . . . . . -1.2109 -0.979 -1.211 c . . . . . 4.807e-03 . . . 0.0107 0.0045 0.0036 0.0002 0.0019 0.0057 0.0014 0.0007 0.0106 0.0041 0.0036 0.0014 0.0023 0.0048 0.0044 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.713 . . exonic exonic exonic . . 0.184 @ . . . 0.51 0.3 182 ENSG00000213516 RBMXL1 RBMXL1 . . . 0.999 0.384 . . . . . . . Likely_benign . 0 . 0.843 . . . . . . . . . 37 . 0.077 . . 0.441 . . . 0.001 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.214 . 0.012 . LowAF 1 rs141468346 . 0.007 . . . . . . . . . . VI.52 . . I.89 0.914 . 1.000000 Q96E39 . . Name\x3ddgv68e1 . . 0.096 . . . 0.0001 1.229e-05 0 0 0 0 9.045e-06 0 0 0.0002 6.532e-05 0 0 0 0 0 0 . . 0.730 . 0.129 0.129000 . . 1.000000 . . 1.0E-189 1.000 0.715 . 0.254 0.983 . 0.642 . 0.063 0.129 -1.042 . . . rs141468346 rs141468346 1 1538 10 1/0 0,255,255 +rs141468346 1 89448623 A G - RBMXL1 25073 RNA binding motif protein, X-linked-like 1 NM_019610.5 -1 4987 1173 NP_062556.2 substitution missense exon GRCh37 89448623 89448623 Chr1(GRCh37):g.89448623A>G 887 887 NM_019610.5:c.887T>C p.Leu296Pro p.Leu296Pro 2 1127 3' 87.2193 8.99995 0.844295 V.42 87.2193 8.99995 0.844295 V.42 0 rs141468346 yes no Frequency 1 0.000000 0 0.000018 0.000170 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000170 5 4 0 0 0 0 1 0 0 274658 23478 34052 10098 18754 30712 125426 25720 6418 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3769031|COSM3769031 Skin|Pancreas 0.000812|0.001706 1232|1758 transition T C T>C 1.000 1.981 L Leu CTT 0.129 P Pro CCT 0.283 296 11 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 243.92 0.00 Tolerated 0.58 III.59 good 9.44E-1 0.04495 189 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.131 . . 52.0 . . . . . . . . . . -1.2109 -0.979 -1.211 c . . . . . 4.807e-03 . . . 0.0107 0.0045 0.0036 0.0002 0.0019 0.0057 0.0014 0.0007 0.0106 0.0041 0.0036 0.0014 0.0023 0.0048 0.0044 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.713 . . exonic exonic exonic . . 0.184 @ . . . 0.51 0.3 182 ENSG00000213516 RBMXL1 RBMXL1 . . . 0.999 0.384 . . . . . . . Likely_benign . 0 . 0.843 . . . . . . . . . 37 . 0.077 . . 0.441 . . . 0.001 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.214 . 0.012 . LowAF 1 rs141468346 . 0.007 . . . . . . . . . . VI.52 . . I.89 0.914 . 1.000000 Q96E39 . . Name\x3ddgv68e1 . . 0.096 . . . 0.0001 1.229e-05 0 0 0 0 9.045e-06 0 0 0.0002 6.532e-05 0 0 0 0 0 0 . . 0.730 . 0.129 0.129000 . . 1.000000 . . 1.0E-189 1.000 0.715 . 0.254 0.983 . 0.642 . 0.063 0.129 -1.042 . . . rs141468346 rs141468346 1 1538 10 1/0 0,255,255 +rs145775181 1 89728437 G A - GBP5 19895 Guanylate binding protein 5 NM_001134486.2 -1 3944 1761 NP_001127958.1 Q96PP8 substitution missense exon GRCh37 89728437 89728437 Chr1(GRCh37):g.89728437G>A 1394 1394 NM_001134486.2:c.1394C>T p.Ser465Phe p.Ser465Phe 9 611467 32 3' 73.6115 5.30097 0.439566 0 73.6115 5.30097 0.439566 0 0 Guanylate-binding protein, C-terminal rs145775181 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.002137 0.000310 0.000405 0.000128 0.000000 0.000163 0.002502 0.007618 0.003162 0.007618 513 7 10 1 0 4 287 187 17 240062 22598 24680 7808 15720 24614 114720 24546 5376 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 511 7 10 1 0 4 285 187 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4404 12983 21 2 23 0.00244186 0.000453926 0.00176841 0.00244186 0.000453926 0.00176841 84 transition C T C>T 0.976 1.497 S Ser TCC 0.220 F Phe TTC 0.546 465 12 9 Platypus -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C15 115.58 90.18 Deleterious 0.01 III.27 bad 9.684E-3 0.01972 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . . . . . 0.475 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.511 . @ . . . . . 1 0.885 . . 40.0 . . . 0.0005 0.0018 0.0024 0.0005 0.0018 0.0024 . 0.5393 0.482 0.539 c . . . . . 2.076e-03 . . . 0.0003 0.0018 0.0005 0 0.0103 0.0025 0 0.0002 0.0002 0.0019 0.0005 0 0.0086 0.0025 0.0015 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.625 0.0004 . . . 0.67 0.61 182 ENSG00000154451 GBP5 GBP5 . . . 1.000 0.747 . 152 0.00233933 64976 150 0.00250058 59986 Uncertain_significance . 0 . 0.216 . . . . T 0.075 0.003 . . 37 . 0.055 . . 0.040 . . . 0.933 0.258 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.858 . . 0 0 0 0 0 0 . 0.483 . . 0.494 . . . . . . 0 0.654 . . . . . 0.466 . 0.526 . HET 0 rs145775181 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 X.37 2.68E-4 . IV.86 IV.86 . 0.000000 Q96PP8 . . . 0.001768 . 0.280 . . IV.86 0.0002 0.0020 0.0004 0.0001 0 0.0075 0.0023 0.0025 0.0002 0.0005 0.0031 0.0012 0 0 0.0086 0.0037 0.0061 . . 0.246 . 2.721 2.721000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.122 0.005 . 0.530 . 0.439 2.721 0.897 0.0026 . . rs145775181 rs145775181 1 1538 10 1/0 0,255,255 +rs142494678 1 93070934 C T - EVI5 3501 Ecotropic viral integration site 5 NM_001350197.1 -1 7793 2481 NP_001337126.1 substitution missense exon GRCh37 93070934 93070934 Chr1(GRCh37):g.93070934C>T 2000 2000 NM_001350197.1:c.2000G>A p.Arg667Lys p.Arg667Lys 18 602942 26 3' 70.8525 2.40438 0.050328 1.90278 70.8525 2.40438 0.050328 2.11644 0 rs142494678 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.003021 0.000374 0.000465 0.005714 0.000000 0.000065 0.003601 0.010345 0.004645 0.010345 837 9 16 58 0 2 456 266 30 277034 24036 34412 10150 18868 30780 126618 25712 6458 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000233 0.000000 3 0 0 0 0 0 0 3 0 831 9 16 58 0 2 456 260 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4406 12975 31 0 31 0.00360465 0 0.00238352 0.00360465 0 0.00238352 128 transition G A G>A 1.000 5.613 R Arg AGG 0.207 K Lys AAG 0.575 667 12 9 C. elegans 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 241.96 0.00 Tolerated 0.37 III.24 255 PASS . 0.0005 . . 0.0013 0.0008 0.0004 . . 0.001 . . . . . . 0.33333334 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.580 . @ . . . . . 1 0.729 . . 42.0 . . . . 0.0024 0.0036 . 0.0024 0.0036 . 0.7690 0.756 0.769 c . . . . . 2.739e-03 . . . 0.0004 0.0023 0.0007 0 0.0074 0.0039 0.0042 0 0.0003 0.0024 0.0005 0 0.0071 0.0036 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . 0.765 0.0004 . . . 0.52 0.41 182 ENSG00000067208 EVI5 EVI5 . . . 1.000 0.747 . 177 0.00272408 64976 175 0.00291735 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.428 0.020 . . 37 . 0.468 . . 0.313 . . . 0.712 0.487 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.454 . . 0 0 0 0 0 0 . 0.715 . . 0.850 . . . . . . 0 0.239 . . . . . 0.931 . 0.753 . HET 0.22 rs142494678 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 19.071 2.68E-4 . V.36 V.36 . 0.200000 . . . . 0.002384 . 0.779 . . V.36 0.0004 0.0028 0.0005 0.0059 0 0.0104 0.0032 0.0047 6.498e-05 0.0003 0.0044 0 0 0 0.0100 0.0063 0.0041 . . 0.609 . 2.481 2.481000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.529 0.929 . 0.812 . 0.362 2.481 0.871 0.0036 . . rs142494678 rs142494678 1 1538 10 1/0 0,255,255 +rs541124595 1 94528377 A G - ABCA4 34 ATP binding cassette subfamily A member 4 NM_000350.2 -1 7326 6822 NP_000341.2 P78363 substitution intron GRCh37 94528377 94528377 Chr1(GRCh37):g.94528377A>G 1761-68 1761-68 NM_000350.2:c.1761-68T>C p.? p.? 13 12 601691 -68 3' 90.0851 XI.54 0.9893 XII.54 90.0851 XI.54 0.9893 XII.38 0 rs541124595 yes no Frequency 1 A 0.000000 0 0.000355 0.000344 0.000000 0.000000 0.000000 0.000000 0.000533 0.000000 0.000000 0.000533 11 3 0 0 0 0 8 0 0 30980 8730 838 302 1622 0 15014 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 3 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||ABCA4|mRNA|CODING|NM_000350|) . . . . . . . 0.0650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198691 ABCA4 ABCA4 . . . . . . 23 0.000353977 64976 23 0.000383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs541124595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0004 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr1:102251962 G/A) 1 102251962 G A Not on a known gene +rs61806265 (chr1:102252024 T/C) 1 102252024 T C Not on a known gene +. (chr1:102252078 T/G) 1 102252078 T G Not on a known gene +. (chr1:104201348 G/A) 1 104201348 G A Not on a known gene +rs2270892 1 104235866 C T - AMY1A 474 Amylase, alpha 1A (salivary) NM_004038.3 -1 1862 1536 NP_004029.2 P04745 substitution intron GRCh37 104235866 104235866 Chr1(GRCh37):g.104235866C>T 744+56 744+56 NM_004038.3:c.744+56G>A p.? p.? 5 5 104700 56 5' 86.16 X.92 0.995842 0 86.16 X.92 0.995842 0 0 rs2270892 no no 0 0.000000 0 transition G A G>A 0.000 0.690 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.21 182 ENSG00000174876 AMY1A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2270892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2270892 rs2270892 rs2270892 rs2270892 1 1538 255 1.I 0,0,255 +rs2270892 1 104235866 C T - AMY1B 475 Amylase, alpha 1B (salivary) NM_001008218.1 -1 1838 1536 NP_001008219.1 P04745 substitution intron GRCh37 104235866 104235866 Chr1(GRCh37):g.104235866C>T 744+56 744+56 NM_001008218.1:c.744+56G>A p.? p.? 5 5 104701 56 5' 86.16 X.92 0.995842 0 86.16 X.92 0.995842 0 0 rs2270892 no no 0 0.000000 0 transition G A G>A 0.000 0.690 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.21 182 ENSG00000174876 AMY1A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2270892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2270892 rs2270892 rs2270892 rs2270892 1 1538 255 1.I 0,0,255 +rs2270892 1 104235866 C T - AMY1C 476 Amylase, alpha 1C (salivary) NM_001008219.2 -1 1895 1536 NP_001008220.1 P04745 substitution intron GRCh37 104235866 104235866 Chr1(GRCh37):g.104235866C>T 744+56 744+56 NM_001008219.2:c.744+56G>A p.? p.? 5 5 104702 56 5' 86.16 X.92 0.995842 0 86.16 X.92 0.995842 0 0 rs2270892 no no 0 0.000000 0 transition G A G>A 0.000 0.690 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.21 182 ENSG00000174876 AMY1A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2270892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2270892 rs2270892 rs2270892 rs2270892 1 1538 255 1.I 0,0,255 +. 1 104238158 C T - AMY1A 474 Amylase, alpha 1A (salivary) NM_004038.3 -1 1862 1536 NP_004029.2 P04745 substitution missense exon GRCh37 104238158 104238158 Chr1(GRCh37):g.104238158C>T 104 104 NM_004038.3:c.104G>A p.Arg35Gln p.Arg35Gln 2 104700 -65 5' 85.557 8.56441 0.924406 0 85.557 8.56441 0.924406 0 0 transition G A G>A 1.000 2.546 R Arg CGA 0.110 Q Gln CAA 0.256 35 19 15 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 26.00 38.19 Deleterious 0.03 III.36 bad 2.396E-3 6.085E-5 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.991 . . 11.0 . . . . . . . . . . -0.0245 -0.086 -0.024 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.260 @ . . . . . . ENSG00000174876 AMY1A . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.077 0.003 . . 37 . 0.495 . . 0.547 . . . . 0.530 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.490 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.682 . . . . . 0.240 . 0.341 . HOM 0 . . . . . . . . . . . . . 7.0319 . . 2.VIII 2.VIII . 0.010000 . . . . . . 0.443 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.246 . 1.150 1.150000 . . 0.010000 . . 1.0E-111 1.000 0.715 . 0.327 0.960 . 0.665 . 0.282 1.150 0.742 . . . . . 1 1538 255 1.I 0,0,255 +. 1 104238158 C T - AMY1B 475 Amylase, alpha 1B (salivary) NM_001008218.1 -1 1838 1536 NP_001008219.1 P04745 substitution missense exon GRCh37 104238158 104238158 Chr1(GRCh37):g.104238158C>T 104 104 NM_001008218.1:c.104G>A p.Arg35Gln p.Arg35Gln 2 104701 -65 5' 85.557 8.56441 0.924406 0 85.557 8.56441 0.924406 0 0 Glycosyl hydrolase, family 13, subfamily, catalytic domain transition G A G>A 1.000 2.546 R Arg CGA 0.110 Q Gln CAA 0.256 35 19 15 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 26.00 38.19 Deleterious 0.03 III.36 bad 2.396E-3 6.085E-5 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.991 . . 11.0 . . . . . . . . . . -0.0245 -0.086 -0.024 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.260 @ . . . . . . ENSG00000174876 AMY1A . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.077 0.003 . . 37 . 0.495 . . 0.547 . . . . 0.530 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.490 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.682 . . . . . 0.240 . 0.341 . HOM 0 . . . . . . . . . . . . . 7.0319 . . 2.VIII 2.VIII . 0.010000 . . . . . . 0.443 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.246 . 1.150 1.150000 . . 0.010000 . . 1.0E-111 1.000 0.715 . 0.327 0.960 . 0.665 . 0.282 1.150 0.742 . . . . . 1 1538 255 1.I 0,0,255 +. 1 104238158 C T - AMY1C 476 Amylase, alpha 1C (salivary) NM_001008219.2 -1 1895 1536 NP_001008220.1 P04745 substitution missense exon GRCh37 104238158 104238158 Chr1(GRCh37):g.104238158C>T 104 104 NM_001008219.2:c.104G>A p.Arg35Gln p.Arg35Gln 2 104702 -65 5' 85.557 8.56441 0.924406 0 85.557 8.56441 0.924406 0 0 transition G A G>A 1.000 2.546 R Arg CGA 0.110 Q Gln CAA 0.256 35 12 9 Zebrafish 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 26.00 38.19 Deleterious 0.04 III.36 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.991 . . 11.0 . . . . . . . . . . -0.0245 -0.086 -0.024 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.260 @ . . . . . . ENSG00000174876 AMY1A . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.077 0.003 . . 37 . 0.495 . . 0.547 . . . . 0.530 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.490 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.682 . . . . . 0.240 . 0.341 . HOM 0 . . . . . . . . . . . . . 7.0319 . . 2.VIII 2.VIII . 0.010000 . . . . . . 0.443 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.246 . 1.150 1.150000 . . 0.010000 . . 1.0E-111 1.000 0.715 . 0.327 0.960 . 0.665 . 0.282 1.150 0.742 . . . . . 1 1538 255 1.I 0,0,255 +. (chr1:104293195 G/A) 1 104293195 G A Not on a known gene +. (chr1:104295487 G/A) 1 104295487 G A Not on a known gene +. 1 108299785 G A - VAV3 12659 Vav 3 guanine nucleotide exchange factor NM_006113.4 -1 4769 2544 NP_006104.4 Q9UKW4 substitution intron GRCh37 108299785 108299785 Chr1(GRCh37):g.108299785G>A 1086+98 1086+98 NM_006113.4:c.1086+98C>T p.? p.? 11 11 605541 98 5' 84.5939 VIII.53 0.937729 3.73471 84.5939 VIII.53 0.937729 3.73471 0 transition C T C>T 0.000 -0.602 224 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||VAV3|mRNA|CODING|NM_006113|) . . . . . . . -0.4557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000134215 VAV3 VAV3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs61799407 1 108777900 C T - NBPF4 26550 Neuroblastoma breakpoint family, member 4 NM_001143989.2 -1 2499 1917 NP_001137461.1 Q5VWK0 substitution missense exon GRCh37 108777900 108777900 Chr1(GRCh37):g.108777900C>T 986 986 NM_001143989.2:c.986G>A p.Ser329Asn p.Ser329Asn 9 613994 10 3' 89.3741 7.81654 0.851091 5.08419 89.3741 7.81654 0.851095 5.29272 1.56662e-06 rs61799407 yes no Frequency 1 T 0.000000 0 transition G A G>A 0.000 -4.234 S Ser AGT 0.149 N Asn AAT 0.464 329 10 2 Armadillo 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.73 III.50 unknown 0.0 0.0 228 PASS . . . . . . . . . . . ENSG00000196427:ENST00000415641:exon9:c.G986A:p.S329N . NBPF4:NM_001143989:exon9:c.G986A:p.S329N . . 0.2375 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.002 . . 80.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S329N|NBPF4|mRNA|CODING|NM_001143989|NM_001143989.ex.9) . . . . . . . -2.5990 -2.638 -2.599 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.059 @ . . . 0.41 0.4 182 ENSG00000196427 NBPF4 NBPF4 . . . 0.422 0.203 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.002 . . 0.362 . . . 0.010 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.030 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.015 . 0.034 . HET 1 rs61799407 . . . . . . . . . . . . 1.0905 . . I.26 -2.52 . 0.710000 Q5T483 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -4.408 -4.408000 . . 0.710000 . . 1.0E-228 0.000 0.063 . 0.016 0.005 . 0.013 . 0.013 -4.408 -1.064 . rs61799407 rs61799407 rs61799407 rs61799407 1 1538 10 1/0 0,248,255 +. 1 108777986 A T - NBPF4 26550 Neuroblastoma breakpoint family, member 4 NM_001143989.2 -1 2499 1917 NP_001137461.1 Q5VWK0 substitution intron GRCh37 108777986 108777986 Chr1(GRCh37):g.108777986A>T 977-77 977-77 NM_001143989.2:c.977-77T>A p.? p.? 9 8 613994 -77 3' 89.3741 7.81654 0.851091 5.08419 89.3741 7.81654 0.851091 4.96428 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5800 650 138 40 188 0 3358 1178 248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 41 Genomes transversion T A T>A 0.000 -0.682 224 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . INTRON(MODIFIER||||NBPF4|mRNA|CODING|NM_001143989|) . . . . . . . -0.5236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.36 0.35 182 ENSG00000196427 NBPF4 NBPF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs79329163 rs79329163 1 1538 10 1/0 0,255,255 +rs7527376 1 108778003 C T - NBPF4 26550 Neuroblastoma breakpoint family, member 4 NM_001143989.2 -1 2499 1917 NP_001137461.1 Q5VWK0 substitution intron GRCh37 108778003 108778003 Chr1(GRCh37):g.108778003C>T 977-94 977-94 NM_001143989.2:c.977-94G>A p.? p.? 9 8 613994 -94 3' 89.3741 7.81654 0.851091 5.08419 89.3741 7.81654 0.851091 5.08419 0 rs7527376 yes no Frequency 1 T 0.000000 0 0.000174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000290 0.000000 0.000000 0.000290 1 0 0 0 0 0 1 0 0 5748 708 126 42 206 0 3454 970 242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition G A G>A 0.000 -3.830 218 PASS . . . . . . . . . . . . . . . . 0.20967741 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||NBPF4|mRNA|CODING|NM_001143989|) . . . . . . . -1.3908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.35 182 ENSG00000196427 NBPF4 NBPF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7527376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . rs7527376 rs7527376 rs7527376 rs7527376 1 1538 10 1/0 0,255,255 +rs1891694 1 108781440 G A - NBPF4 26550 Neuroblastoma breakpoint family, member 4 NM_001143989.2 -1 2499 1917 NP_001137461.1 Q5VWK0 substitution synonymous exon GRCh37 108781440 108781440 Chr1(GRCh37):g.108781440G>A 714 714 NM_001143989.2:c.714C>T p.Val238= p.Val238Val 6 613994 -71 5' 71.4448 7.13302 0.817831 IV.28 71.4448 7.13302 0.817831 3.78991 0 Cryptic Acceptor Strongly Activated 108781420 5.99676 0.319088 77.7185 6.78866 0.353333 77.7185 DUF1220 rs1891694 no no 0 A 0.000000 0 transition C T C>T 0.000 -3.265 V Val GTC 0.240 V Val GTT 0.178 238 184 PASS . . . . . . . . . . . ENSG00000196427:ENST00000415641:exon6:c.C714T:p.V238V . NBPF4:NM_001143989:exon6:c.C714T:p.V238V . . 0.12280702 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V238|NBPF4|mRNA|CODING|NM_001143989|NM_001143989.ex.6) . . . . . . . -0.9864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196427 NBPF4 NBPF4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.01 rs1891694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . rs1891694 rs1891694 rs1891694 rs1891694 1 1538 10 1/0 0,252,255 +rs191999276 1 109618488 A G - TAF13 11546 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa NM_005645.3 -1 577 375 NP_005636.1 Q15543 substitution intron GRCh37 109618488 109618488 Chr1(GRCh37):g.109618488A>G 27+55 27+55 NM_005645.3:c.27+55T>C p.? p.? 1 1 600774 55 5' 86.4167 XI.33 0.986129 XI.21 86.4167 XI.33 0.986129 XI.42 0 rs191999276 yes no Frequency/1000G 2 A 0.000000 0 0.003195 0.000000 0.005100 0.000000 0.009900 0.001400 0.008391 0.001717 0.005967 0.006623 0.000000 0.000000 0.010324 0.020619 0.011202 0.020619 260 15 5 2 0 0 155 72 11 30984 8736 838 302 1620 0 15014 3492 982 0.011538 0.000000 0.000000 0.000000 0.000000 0.000000 0.019355 0.000000 0.000000 3 0 0 0 0 0 3 0 0 254 15 5 2 0 0 149 72 11 0 0 0 0 0 0 0 0 0 PASS 43 Genomes 3155 1381 4536 27 3 30 0.00848523 0.00216763 0.0065703 0.00848523 0.00216763 0.0065703 64 transition T C T>C 0.000 -0.037 255 PASS . 0.0037 0.0028 . 0.01 . 0.0032 0.0014 . 0.0099 0.0051 . . . . . 0.50757575 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||TAF13|mRNA|CODING|NM_005645|) 0.0022 0.0066 0.0085 0.0022 0.0066 0.0085 . II.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.36 0.31 182 ENSG00000197780 TAF13 TAF13 . . . . . . 558 0.00858779 64976 542 0.00903544 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191999276 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006570 . . . . . . . . . . . . . . 0.0017 0.0084 0.0060 0.0066 0 0.0206 0.0103 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs191999276 rs191999276 1 1538 10 1/0 0,249,255 +. 1 109766576 T G - SARS 10537 Seryl-tRNA synthetase NM_006513.3 1 1939 1545 NP_006504.2 P49591 substitution intron GRCh37 109766576 109766576 Chr1(GRCh37):g.109766576T>G 137-24 137-24 NM_006513.3:c.137-24T>G p.? p.? 2 1 607529 -24 3' 89.3335 6.90603 0.98867 VII.78 89.3335 6.90603 0.98867 5.86586 0 New Acceptor Site 109766577 4.92351 0.352797 82.4276 transversion T G T>G 0.378 2.223 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . INTRON(MODIFIER||||SARS|mRNA|CODING|NM_006513|) . . . . . . . 0.5756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000031698 SARS SARS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs142987028 1 109795119 C T - CELSR2 3231 Cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) NM_001408.2 1 10540 8772 NP_001399.1 Q9HCU4 substitution synonymous exon GRCh37 109795119 109795119 Chr1(GRCh37):g.109795119C>T 2418 2418 NM_001408.2:c.2418C>T p.Asn806= p.Asn806Asn 1 604265 -893 5' 94.9812 11.083 0.997335 12.828 94.9812 11.083 0.997335 12.828 0 Cryptic Donor Strongly Activated 109795113 1.51499 0.036091 69.1964 3.52916 0.327418 74.975 Cadherin rs142987028 yes no Frequency 1 C 0.000000 0 0.000069 0.000000 0.000058 0.000197 0.000000 0.000000 0.000118 0.000000 0.000000 0.000197 19 0 2 2 0 0 15 0 0 277084 24022 34418 10148 18866 30780 126648 25734 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 2 2 0 0 15 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 109 transition C T C>T 0.866 -0.440 N Asn AAC 0.536 N Asn AAT 0.464 806 255 PASS . . . . . . . . . . . ENSG00000143126:ENST00000271332:exon1:c.C2418T:p.N806N CELSR2:uc001dxa.4:exon1:c.C2418T:p.N806N CELSR2:NM_001408:exon1:c.C2418T:p.N806N . . 0.48666668 . . @ 73 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N806|CELSR2|mRNA|CODING|NM_001408|NM_001408.ex.1) . 0.0002 0.0002 . 0.0002 0.0002 . 0.5034 . . . . . . . . 3.157e-05 . . . 0 3.315e-05 0 0 0 7.151e-05 0 0 0 2.825e-05 0 0 0 5.52e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.33 182 ENSG00000143126 CELSR2 CELSR2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142987028 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0 7.313e-05 5.956e-05 0.0001 0 0 0.0001 0 0 0 3.231e-05 0 0.0033 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs142987028 rs142987028 1 1538 10 1/0 0,241,255 +rs116496512 1 109824503 G A - PSRC1 24472 Proline and serine rich coiled-coil 1 NM_001032291.2 -1 1745 1002 NP_001027462.1 substitution missense exon GRCh37 109824503 109824503 Chr1(GRCh37):g.109824503G>A 257 257 NM_001032291.2:c.257C>T p.Ala86Val p.Ala86Val 4 613126 180 3' 84.4007 6.67524 0.893586 7.76514 84.4007 6.67524 0.893586 7.76514 0 Cryptic Acceptor Strongly Activated 109824498 I.39 0.004741 66.2806 3.41048 0.011423 69.8262 rs116496512 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.005100 0.000000 0.003000 0.000000 0.003022 0.000467 0.001194 0.003288 0.000000 0.010110 0.002837 0.002416 0.002651 0.010110 828 11 41 33 0 311 353 62 17 273984 23554 34326 10036 18816 30762 124412 25666 6412 0.000051 0.000000 0.000000 0.000000 0.000000 0.000455 0.000000 0.000000 0.000000 7 0 0 0 0 7 0 0 0 814 11 41 33 0 297 353 62 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8578 4402 12980 20 4 24 0.00232612 0.000907853 0.00184559 0.00232612 0.000907853 0.00184559 25 transition C T C>T 0.008 2.062 A Ala GCT 0.263 V Val GTT 0.178 86 12 11 Platypus 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 65.28 0.00 Tolerated 0.12 III.64 good 7.118E-1 0.05721 255 PASS . 0.0005 . . 0.0013 . 0.0016 . . 0.003 0.0051 . . . . . 0.41509435 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.313 . @ . . . . . 1 0.959 . . 106.0 . . . 0.0009 0.0018 0.0023 0.0009 0.0018 0.0023 . -0.5409 -0.513 -0.541 c . . . . . 3.175e-03 . . . 0.0007 0.0035 0.0009 0 0.0026 0.0027 0.0029 0.0104 0.0006 0.0034 0.0009 0 0.0023 0.0030 0.0015 0.0104 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.604 . . exonic exonic exonic . . 0.693 0.0016 . . . 0.35 0.41 182 ENSG00000134222 PSRC1 PSRC1 . . . 1.000 0.747 . 136 0.00209308 64976 128 0.00213383 59986 Uncertain_significance . 0 . 0.257 . . . . . . . . . 37 . 0.316 . . 0.294 . . . 0.572 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.505 . . 0 0 0 0 0 0 . 0.144 . . 0.198 . . . . . . 0 0.632 . . . . . 0.490 . 0.481 . HET 0 rs116496512 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 XI.67 5.35E-4 . 6.III 5.XII . 0.030000 . . . Name\x3dnsv517354 0.001846 . 0.210 . . 5.XII 0.0005 0.0032 0.0012 0.0033 0 0.0025 0.0029 0.0028 0.0101 0.0003 0.0017 0.0024 0.0033 0 0.0017 0.0027 0.0020 . . 0.872 . 1.557 1.557000 . . 0.030000 . . 1.0E-255 0.060 0.216 . 0.212 0.970 . 0.434 . 0.713 1.557 0.917 0.0023 . . rs116496512 rs116496512 1 1538 10 1/0 0,250,255 +rs140395971 1 110300400 G A - EPS8L3 21297 EPS8 like 3 NM_139053.2 -1 2321 1785 NP_620641.1 substitution intron GRCh37 110300400 110300400 Chr1(GRCh37):g.110300400G>A 897+24 897+24 NM_139053.2:c.897+24C>T p.? p.? 10 10 614989 24 5' 81.4083 8.36849 0.49065 8.27591 81.4083 8.36849 0.49065 8.18421 0 rs140395971 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.008200 0.000000 0.001000 0.001400 0.001264 0.000042 0.000174 0.000000 0.000000 0.007765 0.000784 0.000039 0.000466 0.007765 348 1 6 0 0 239 98 1 3 275390 24002 34404 10100 18866 30780 125008 25792 6438 0.000029 0.000000 0.000000 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 340 1 6 0 0 231 98 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 82 transition C T C>T 0.000 -0.037 255 PASS . 0.0009 0.0028 . 0.0013 . 0.002 0.0014 . 0.001 0.0082 . . . . . 0.57894737 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . 0.1787 . . . . . . . . 1.436e-03 . . . 9.666e-05 0.0019 0.0002 0 0.0003 0.0007 0.0028 0.0081 0 0.0016 0.0002 0 0.0002 0.0006 0.0014 0.0081 . . . . . . ncRNA_intronic intronic intronic . . . 0.0020 . . . 0.22 0.11 182 ENSG00000241720 EPS8L3 EPS8L3 . . . . . . 56 0.000861857 64976 46 0.000766846 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140395971 . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 6.545e-05 0.0014 0.0001 0 0 4.485e-05 0.0008 0.0005 0.0078 0 0.0004 0.0012 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs140395971 rs140395971 1 1538 10 1/0 0,255,255 +rs567615165 1 111739668 T C - DENND2D 26192 DENN/MADD domain containing 2D NM_024901.4 -1 3296 1416 NP_079177.2 Q9H6A0 substitution intron GRCh37 111739668 111739668 Chr1(GRCh37):g.111739668T>C 504+130 504+130 NM_024901.4:c.504+130A>G p.? p.? 5 5 615111 130 5' 84.5939 VIII.53 0.957918 8.08994 84.5939 VIII.53 0.957918 8.08994 0 rs567615165 yes no Frequency/1000G 2 T 0.000200 C 1 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000129 0.000229 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000229 4 2 0 0 0 0 2 0 0 30960 8724 838 302 1622 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition A G A>G 0.000 -2.297 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.6025641 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.1504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000162777 DENND2D DENND2D . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs567615165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs72701116 1 113240577 C A - MOV10 7200 Mov10 RISC complex RNA helicase NM_001130079.2 1 3474 3012 NP_001123551.1 Q9HCE1 substitution intron GRCh37 113240577 113240577 Chr1(GRCh37):g.113240577C>A 2199-39 2199-39 NM_001130079.2:c.2199-39C>A p.? p.? 15 14 610742 -39 3' 81.5748 9.0244 0.983412 8.13367 81.5748 9.0244 0.983412 7.85838 0 113240580 -20.2941 rs72701116 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000000 0.001000 0.000000 0.011900 0.001400 0.007779 0.001623 0.005117 0.005254 0.000159 0.003645 0.011526 0.010729 0.005893 0.011526 2149 39 176 53 3 112 1452 276 38 276256 24026 34398 10088 18866 30730 125976 25724 6448 0.000109 0.000000 0.000058 0.000000 0.000000 0.000195 0.000111 0.000311 0.000000 15 0 1 0 0 3 7 4 0 2119 39 174 53 3 106 1438 268 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8520 4399 12919 80 7 87 0.00930233 0.00158874 0.00668922 0.00930233 0.00158874 0.00668922 129 transversion C A C>A 0.000 1.416 255 PASS . 0.0027 0.0028 . 0.01 . 0.0028 0.0014 . 0.012 0.001 . . . . . 0.5714286 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . 0.0016 0.0067 0.0093 0.0016 0.0067 0.0093 . 0.2541 . . . . . . . . 8.343e-03 . . . 0.0014 0.0057 0.0033 0.0004 0.0074 0.0090 0.0014 0.0035 0.0015 0.0084 0.0031 0.0003 0.0083 0.0133 0.0072 0.0035 . . . . . . intronic intronic intronic . . . 0.0028 . . . 0.18 0.17 182 ENSG00000155363 MOV10 MOV10 . . . . . . 471 0.00724883 64976 458 0.00763511 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs72701116 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006689 . . . . 3.IV 0.0012 0.0078 0.0052 0.0051 0.0002 0.0108 0.0117 0.0060 0.0036 0.0023 0.0073 0.0036 0.0099 0 0.0103 0.0105 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs72701116 rs72701116 rs72701116 1 1538 10 1/0 0,255,255 +rs373262677 1 115223010 C T - AMPD1 468 Adenosine monophosphate deaminase 1 NM_000036.2 -1 2407 2343 NP_000027.2 P23109 substitution missense exon GRCh37 115223010 115223010 Chr1(GRCh37):g.115223010C>T 736 736 NM_000036.2:c.736G>A p.Gly246Ser p.Gly246Ser 6 102770 90 3' 63.8235 1.27557 1.8e-05 0 63.8235 1.27557 1.8e-05 0 0 AMP deaminase rs373262677 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000137 0.000250 0.000726 0.000000 0.000000 0.000032 0.000047 0.000000 0.000000 0.000726 38 6 25 0 0 1 6 0 0 277240 24032 34420 10152 18870 30780 126726 25792 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 6 25 0 0 1 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4404 13004 0 2 2 0 0.000453926 0.000153775 0 0.000453926 0.000153775 165 transition G A G>A 1.000 6.339 G Gly GGT 0.162 S Ser AGT 0.149 246 13 12 C. elegans 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 93.77 II.75 Deleterious 0.04 III.23 good 6.706E-1 0.08386 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.47540984 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.904 . @ . . . . . 1 0.936 . . 61.0 . . . 0.0005 0.0002 . 0.0005 0.0002 . . 0.7998 0.728 0.800 c . . . . . 1.184e-04 . . . 0.0002 0.0001 0.0008 0 0 2.373e-05 0.0014 0 0.0002 0.0001 0.0008 0 0 5.52e-05 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.926 . . exonic exonic exonic . . 0.987 0.0002 . . . 0.54 0.5 182 ENSG00000116748 AMPD1 AMPD1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.920 0.338 . . 37 . 0.962 . . 0.951 . . . 0.892 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.828 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.405 . . . . . 0.996 . 0.975 . HET 0 rs373262677 . . . . . . . . . . . . 20.6525 2.68E-4 . 6.VII 6.VII . 0.060000 . . . Name\x3desv28734 0.000154 . 0.957 . . 6.VII 0.0002 0.0001 0.0007 0 0 0 4.476e-05 0 3.249e-05 0.0003 0.0001 0 0 0 0 6.661e-05 0 . . 0.133 . 2.890 2.890000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.272 0.577 . 0.854 . 0.403 2.890 0.871 0.0005 . . rs373262677 . 1 1538 10 1/0 0,255,255 +rs114915440 1 117122285 G C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117122285 117122285 Chr1(GRCh37):g.117122285G>C 3123 3123 NM_001542.3:c.3123C>G p.Asp1041Glu p.Asp1041Glu 10 603491 215 3' 85.7835 11.0181 0.958309 12.569 85.7835 11.0181 0.958309 12.569 0 Immunoglobulin-like Immunoglobulin subtype rs114915440 yes no Frequency 1 G 0.000000 0 0.007114 0.000447 0.021368 0.000336 0.000166 0.003273 0.003816 0.022027 0.008966 0.022027 1701 10 676 3 3 90 395 473 51 239120 22364 31636 8936 18020 27498 103504 21474 5688 0.000117 0.000000 0.000443 0.000000 0.000000 0.000000 0.000019 0.000466 0.000352 14 0 7 0 0 0 1 5 1 1122 9 474 2 3 67 258 277 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1333057|COSM1333057 Upper aerodigestive tract|Large intestine 0.000804|0.000448 1244|2231 transversion C G C>G 0.039 -0.440 D Asp GAC 0.539 E Glu GAG 0.583 1041 12 2 Chimp 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 IV.32 202 PASS . . . . . . . . . . . . . . . . 0.1632653 . . @ 24 . . 1.2.2016 0 1 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.104 . @ . . . . . 1 0.005 . . 147.0 . . . . . . . . . . -1.5567 -1.633 -1.557 c . . . . . 6.101e-03 . . . 0.0003 0.0055 0.0199 0.0004 0.0189 0.0032 0.0081 0.0037 0.0004 0.0063 0.0202 0.0003 0.0181 0.0048 0.0116 0.0037 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.151 @ . . . 0.18 0.19 182 ENSG00000143061 IGSF3 IGSF3 . . . 0.765 0.236 . 2097 0.0322735 64976 2087 0.0347915 59986 Likely_benign . 0 . 0.237 . . . . . . . . . 37 . 0.005 . . 0.462 . . . 0.042 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.065 . HET 1 rs114915440 0.011 0.014 . . . . . . . . . . . 0.012039 . 0.329 0.329 . 1.000000 . . . Name\x3dnsv482103 . . 0.013 . . . 0.0004 0.0073 0.0215 0.0003 0.0002 0.0217 0.0038 0.0084 0.0033 0.0005 0.0055 0.0157 0 0 0.0237 0.0040 0.0116 . . 0.609 . -0.471 -0.471000 . . 1.000000 . . 1.0E-202 0.003 0.159 . 0.108 0.002 . 0.027 . 0.012 -0.471 -2.409 0.011 . . rs114915440 rs114915440 1 1538 10 1/0 0,215,255 +rs75947003 1 117142700 C A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117142700 117142700 Chr1(GRCh37):g.117142700C>A 1952 1952 NM_001542.3:c.1952G>T p.Ser651Ile p.Ser651Ile 7 603491 -138 5' 95.6376 X.36 0.995297 XII.51 95.6376 X.36 0.995297 XII.51 0 Cryptic Acceptor Strongly Activated 117142693 0.00062 0.876498 0.007275 69.3338 Immunoglobulin subtype rs75947003 yes no Frequency 1 C 0.000000 0 0.000022 0.000042 0.000029 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000042 6 1 1 0 0 0 4 0 0 274992 23814 34238 10116 18728 30716 125322 25618 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4142197|COSM4142197 Thyroid|Large intestine 0.002677|0.001345 747|2231 transversion G T G>T 1.000 2.062 S Ser AGC 0.243 I Ile ATC 0.481 651 12 12 Zebrafish -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C65 0.00 141.80 Deleterious 0 III.67 230 PASS . . . . . . . . . . . . . . . . 0.24210526 . . @ 46 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.658 . @ . . . . . 1 0.719 . . 190.0 . . . . . . . . . . 0.3319 0.353 0.332 c . . . . . 1.847e-03 . . . 0.0025 0.0015 0.0013 0.0023 0.0019 0.0016 0.0014 0.0002 0.0026 0.0016 0.0014 0.0017 0.0019 0.0018 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.439 @ . . . 0.4 0.36 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.405 . . . . . . . Uncertain_significance . 0 . 0.347 . . . . T 0.343 0.014 . . 37 . 0.128 . . 0.025 . . . 0.510 0.503 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.183 . . . . . 0.441 . 0.850 . HET 0.17 rs75947003 . . . . . . . . . . . . X.54 . . 4.VIII III.89 . 0.090000 . . . . . . 0.580 . . III.89 6.625e-05 2.458e-05 2.994e-05 0 0 0 3.625e-05 0 0 0 0 0 0 0 0 0 0 . . 0.730 . 1.231 1.231000 . . 0.090000 . . 1.0E-230 1.000 0.715 . 0.750 1.000 . 0.686 . 0.345 1.231 0.871 . . . rs75947003 rs112943111 1 1538 10 1/0 0,211,255 +rs75067537 1 117142736 A G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117142736 117142736 Chr1(GRCh37):g.117142736A>G 1916 1916 NM_001542.3:c.1916T>C p.Ile639Thr p.Ile639Thr 7 603491 -174 5' 95.6376 X.36 0.995297 XII.51 95.6376 X.36 0.995297 XII.51 0 Immunoglobulin subtype rs75067537 yes no Frequency/1000G 2 A 0.000000 0 0.001997 0.002300 0.003100 0.001000 0.001000 0.002900 0.000366 0.000629 0.001077 0.000000 0.000479 0.000261 0.000214 0.000000 0.000776 0.001077 101 15 37 0 9 8 27 0 5 275898 23856 34344 10138 18778 30648 126046 25642 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 15 37 0 9 8 27 0 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1491688|COSM1491688|COSM1491688|COSM1491688|COSM1491688 Thyroid|Large intestine|Kidney|Haematopoietic and lymphoid tissue|Central nervous system 0.005355|0.000448|0.000578|0.000283|0.002079 747|2231|1729|3531|2405 transition T C T>C 1.000 3.918 I Ile ATC 0.481 T Thr ACC 0.361 639 12 10 Chicken -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C25 28.68 69.84 Deleterious 0.01 III.67 242 PASS . . . . . 0.0023 0.002 0.0029 0.001 0.001 0.0031 . . . . . 0.27906978 . . @ 60 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.696 . . 215.0 . . . . . . . . . . 0.0184 0.187 0.018 c . . . . . 5.919e-04 . . . 0.0010 0.0006 0.0007 0.0007 0.0003 0.0004 0.0042 0.0005 0.0011 0.0005 0.0007 0.0006 0.0002 0.0004 0.0029 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.152 . . exonic exonic exonic . . 0.610 @ . . . 0.45 0.38 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . 902 0.013882 64976 896 0.0149368 59986 Uncertain_significance . 0 . 0.523 . . . . T 0.248 0.009 . . 37 . 0.064 . . 0.176 . . . 0.387 0.482 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.659 . . 0 0 0 0 0 0 . 0.308 . . 0.333 . . . . . . 0 0.721 . . . . . 0.542 . 0.658 . HET 0.04 rs138851517 . . . . . . . . . . . . XII.58 . . 4.VIII 4.VIII . 0.080000 . . . . . . 0.800 . . 4.VIII 0.0004 0.0004 0.0011 0 0.0005 0 0.0002 0.0009 0.0003 0.0010 0.0004 0.0012 0 0.0006 0 0 0 . . 0.730 . 2.001 2.001000 . . 0.080000 . . 1.0E-242 1.000 0.715 . 0.697 1.000 . 0.910 . 0.851 2.001 1.062 . . . rs75067537 rs138851517 1 1538 10 1/0 0,209,255 +rs61786568 1 117142855 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117142855 117142855 Chr1(GRCh37):g.117142855C>T 1797 1797 NM_001542.3:c.1797G>A p.Ser599= p.Ser599Ser 7 603491 113 3' 90.6407 XI.37 0.980641 X.65 90.6407 XI.37 0.980641 X.65 0 New Acceptor Site 117142853 4.69218 0.121915 69.7587 Immunoglobulin subtype rs61786568 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000105 0.000542 0.000087 0.000000 0.000106 0.000097 0.000063 0.000000 0.000000 0.000542 29 13 3 0 2 3 8 0 0 277002 23998 34418 10144 18868 30770 126584 25760 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 13 3 0 2 3 8 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4401 13001 0 5 5 0 0.00113482 0.000384438 0 0.00113482 0.000384438 34 transition G A G>A 0.339 -2.135 S Ser TCG 0.056 S Ser TCA 0.148 599 238 PASS . . . . . 0.003 0.0008 . . . . . . . . . 0.26600984 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 203.0 . . . 0.0011 0.0004 . 0.0011 0.0004 . . -0.1306 . . . . . . . . 2.762e-04 . . . 0.0018 0.0003 8.709e-05 0.0004 0 9.619e-05 0 0.0003 0.0018 0.0003 8.981e-05 0.0001 0 0.0001 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.34 0.26 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61786568 0.098 0.065 . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 0.0007 0.0001 8.934e-05 0 0.0001 0 7.17e-05 0 9.75e-05 0.0003 9.689e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . 0.098 rs61786568 rs61786568 rs61786568 rs61786568 1 1538 10 1/0 0,211,255 +rs61730489 1 117142868 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution stop gain exon GRCh37 117142868 117142868 Chr1(GRCh37):g.117142868C>T 1784 1784 NM_001542.3:c.1784G>A p.Trp595* p.Trp595* 7 603491 100 3' 90.6407 XI.37 0.980641 X.65 90.6407 XI.37 0.980641 X.65 0 New Acceptor Site 117142866 4.36042 0.796346 71.9643 Immunoglobulin subtype rs61730489 yes no Frequency 1 C 0.000000 0 0.000011 0.000042 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000042 3 1 0 0 0 0 2 0 0 277118 24034 34418 10148 18866 30780 126636 25772 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1560066|COSM1560066 Large intestine|Central nervous system 0.000448|0.002495 2231|2405 transition G A G>A 0.992 3.030 W Trp TGG 1.000 * * TAG 0.234 595 219 PASS . . . . . . . . . . . . . . . . 0.20994475 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.976 . @ . . . . . 0 0.818 . . 181.0 . . . . . . . . . . 0.8358 0.619 0.836 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.557 @ . . . 0.5 0.41 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Likely_pathogenic . 0 . 0.415 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.702 . . . HET 0.03 rs61730489 . . . . . . . . . . . . 14.8995 . . IV.57 IV.57 . 0.030000 . . . . . . 0.536 . . IV.57 0 4.063e-06 0 0 0 0 8.958e-06 0 0 0.0001 6.457e-05 0 0 0 0 6.663e-05 0 . . 0.924 . 2.354 2.354000 . . 0.030000 . . 1.0E-219 1.000 0.715 . 0.161 0.661 . 0.583 . 0.345 2.354 0.871 . . . rs61730489 rs61730489 1 1538 10 1/0 0,211,255 +rs78806598 1 117142869 A G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117142869 117142869 Chr1(GRCh37):g.117142869A>G 1783 1783 NM_001542.3:c.1783T>C p.Trp595Arg p.Trp595Arg 7 603491 99 3' 90.6407 XI.37 0.980641 X.65 90.6407 XI.37 0.980641 X.65 0 Immunoglobulin subtype rs78806598 yes no Frequency 1 A 0.000000 0 0.000032 0.000042 0.000000 0.000000 0.000053 0.000162 0.000016 0.000000 0.000000 0.000162 9 1 0 0 1 5 2 0 0 277106 24028 34418 10146 18868 30778 126634 25776 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 1 5 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 38 transition T C T>C 0.827 -0.037 W Trp TGG 1.000 R Arg CGG 0.207 595 12 3 Chicken -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 173.78 0.00 Tolerated 0.98 III.67 235 PASS . . . . . . . . . . . . . . . . 0.25824177 . . @ 47 . . 1.2.2016 0 1 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.015 . . 182.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -1.3621 -1.257 -1.362 c . . . . . 2.368e-05 . . . 9.843e-05 3.334e-05 0 0 0 0 0 0.0001 0.0001 2.845e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.113 . . exonic exonic exonic . . 0.088 @ . . . 0.33 0.25 182 ENSG00000143061 IGSF3 IGSF3 . . . 0.967 0.289 . . . . . . . Likely_benign . 0 . 0.415 . . . . T 0.062 0.003 . . 37 . 0.011 . . 0.439 . . . 0.097 0.223 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.014 . . 0 0 0 0 0 0 . 0.026 . . 0.112 . . . . . . 0 0.027 . . . . . 0.053 . 0.234 . HET 0.88 rs78806598 0.022 0.014 . . . . . . . . . . II.26 0.0 . IV.57 -1.26 . 0.530000 . . . . 0.000077 . 0.221 . . . 0 2.844e-05 0 0 5.798e-05 0 8.958e-06 0 0.0002 0.0001 6.459e-05 0 0 0 0 6.665e-05 0 . . 0.924 . -0.095 -0.095000 . . 0.530000 . . 1.0E-235 0.999 0.424 . 0.111 0.559 . 0.293 . 0.021 -0.095 -1.310 0.022 . . rs78806598 rs78806598 1 1538 10 1/0 0,215,255 +. 1 117142977 A G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117142977 117142977 Chr1(GRCh37):g.117142977A>G 1685-10 1685-10 NM_001542.3:c.1685-10T>C p.? p.? 7 6 603491 -10 3' 90.6407 XI.37 0.980641 X.65 87.358 XI.54 0.957074 XI.51 -0.00461037 0.000163 0.000209 0.000088 0.000105 0.000159 0.000743 0.000065 0.000040 0.000158 0.000743 44 5 3 1 3 22 8 1 1 270550 23880 34086 9556 18812 29626 123100 25148 6342 0.000007 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 42 5 3 1 3 20 8 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM6200149|COSM6200149 Stomach|Liver 0.001101|0.000422 908|2371 transition T C T>C 0.283 0.932 188 PASS . . . . . . . . . . . . . . . . 0.12987013 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.6071 . . . . . . . . 4.028e-04 . . . 0.0003 0.0005 0.0003 0.0005 0.0003 0.0003 0 0.0018 0.0002 0.0005 0.0003 0.0005 0.0002 0.0002 0 0.0018 . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.36 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs138030652 . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . 0.0001 0.0002 9.023e-05 0.0001 0.0001 4.618e-05 7.399e-05 0.0002 0.0007 0.0003 0.0001 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs79159362 rs138030652 1 1538 10 1/0 0,210,255 +rs61786577 1 117146504 G A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117146504 117146504 Chr1(GRCh37):g.117146504G>A 1426 1426 NM_001542.3:c.1426C>T p.Arg476Cys p.Arg476Cys 6 603491 144 3' 76.2747 X.68 0.990373 XII.18 76.2747 X.68 0.990373 XII.18 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs61786577 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245160 15068 33580 9802 17238 30782 110956 22270 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 70 Exomes COSM4142201|COSM4142201 Thyroid|Large intestine 0.004016|0.000896 747|2231 transition C T C>T 1.000 4.564 R Arg CGC 0.190 C Cys TGC 0.552 476 12 10 Chicken -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 116.42 150.23 Deleterious 0.01 III.67 195 PASS . . . . . . . . . . . . . . . . 0.14718615 . . @ 34 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.952 . @ . . . . . 1 0.999 . . 231.0 . . . . . . . . . . 0.5856 0.609 0.586 c . . . . . 7.893e-06 . . . 0 1.124e-05 0 0 0 2.444e-05 0 0 0 9.534e-06 0 0 0 1.869e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.658 . . exonic exonic exonic . . 0.737 @ . . . 0.45 0.45 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . D 0.746 0.085 . . 37 . 0.615 . . 0.655 . . . 0.547 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.599 . . . . . 0.655 . 0.834 . LowAF 0 rs61786577 . . . . . . . . . . . . 14.2601 . . V.27 V.27 . 0.020000 . . . . . . 0.696 . . V.27 0 8.158e-06 0 0 0 0 1.803e-05 0 0 . . . . . . . . . . 0.498 . 2.735 2.735000 . . 0.020000 . . 9.999999999999999E-196 1.000 0.715 . 0.888 0.997 . 0.565 . 0.674 2.735 0.917 . rs61786577 rs61786577 rs61786577 rs61786577 1 1538 10 1/0 0,194,255 +rs61786578 1 117146563 G A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117146563 117146563 Chr1(GRCh37):g.117146563G>A 1367 1367 NM_001542.3:c.1367C>T p.Thr456Met p.Thr456Met 6 603491 85 3' 76.2747 X.68 0.990373 XII.18 76.2747 X.68 0.990373 XII.18 0 Cryptic Acceptor Strongly Activated 117146557 III.52 0.073284 76.3414 3.95072 0.153973 78.4446 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs61786578 yes no Frequency 1 G 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000032 0.000045 0.000000 0.000000 0.000045 6 0 0 0 0 1 5 0 0 244994 15048 33578 9806 17222 30780 110978 22116 5466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM4142205|COSM4142205|COSM4142205 Thyroid|Large intestine|Bone 0.006693|0.000896|0.001757 747|2231|569 transition C T C>T 0.984 4.564 T Thr ACG 0.116 M Met ATG 1.000 456 12 9 Cow -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 154.81 0.00 Deleterious 0.03 III.67 199 PASS . . . . . . . . . . . . . . . . 0.15714286 . . @ 33 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.818 . . 210.0 . . . . . . . . . . 0.0592 0.212 0.059 c . . . . . 1.579e-05 . . . 0 2.267e-05 0 0 0 4.95e-05 0 0 0 9.57e-06 0 0 0 1.877e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.737 @ . . . 0.45 0.43 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.432 . . . . T 0.273 0.010 . . 37 . 0.010 . . 0.698 . . . 0.351 0.441 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.305 . . 0 0 0 0 0 0 . 0.449 . . 0.390 . . . . . . 0 0.393 . . . . . 0.655 . 0.763 . HET 0.05 rs61786578 . . . . . . . . . . . . 14.2601 . . V.27 V.27 . 0.180000 . . . . . . 0.581 . . V.27 0 2.449e-05 0 0 0 0 4.505e-05 0 3.249e-05 . . . . . . . . . . 0.498 . 2.735 2.735000 . . 0.180000 . . 1.0E-199 0.998 0.411 . 0.300 0.665 . 0.471 . 0.219 2.735 0.917 . rs61786578 rs61786578 rs61786578 rs61786578 1 1538 10 1/0 0,199,255 +rs61786579 1 117146571 A G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117146571 117146571 Chr1(GRCh37):g.117146571A>G 1359 1359 NM_001542.3:c.1359T>C p.Ser453= p.Ser453Ser 6 603491 77 3' 76.2747 X.68 0.990373 XII.18 76.2747 X.68 0.990373 XII.43 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs61786579 no no 0 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 244802 15026 33576 9806 17212 30780 110888 22052 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM5457959 Large intestine 0.000896 2231 transition T C T>C 0.528 -0.521 S Ser AGT 0.149 S Ser AGC 0.243 453 206 PASS . . . . . . . . . . . . . . . . 0.17486338 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 183.0 . . . . . . . . . . 0.6212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.33 0.29 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61786579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.085e-06 0 0 0 0 9.018e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs61786579 rs61786579 rs61786579 rs61786579 1 1538 10 1/0 0,207,255 +rs532709767 1 117146592 C G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117146592 117146592 Chr1(GRCh37):g.117146592C>G 1338 1338 NM_001542.3:c.1338G>C p.Glu446Asp p.Glu446Asp 6 603491 56 3' 76.2747 X.68 0.990373 XII.18 76.2747 X.68 0.990373 13.1571 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs532709767 no no 0 C 0.000000 0 COSM4142207|COSM4142207|COSM4142207 Thyroid|Large intestine|Haematopoietic and lymphoid tissue 0.001339|0.000448|0.000283 747|2231|3531 transversion G C G>C 0.890 0.609 E Glu GAG 0.583 D Asp GAC 0.539 446 12 10 Zebrafish 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 44.60 0.00 Tolerated 0.32 III.67 206 PASS . . . . . . . . . . . . . . . . 0.1734104 . . @ 30 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.221 . @ . . . . . 1 0.574 . . 173.0 . . . . . . . . . . -0.3757 -0.223 -0.376 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.354 @ . . . . . . ENSG00000143061 IGSF3 IGSF3 . . . 0.933 0.271 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.167 0.006 . . 37 . 0.011 . . 0.498 . . . 0.145 0.426 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.397 . . 0 0 0 0 0 0 . 0.112 . . 0.158 . . . . . . 0 0.141 . . . . . 0.503 . 0.152 . HET 0.16 rs532709767 . . . . . . . . . . . . XI.28 . . 5.IX III.17 . 0.270000 . . . . . . 0.364 . . III.17 . . . . . . . . . . . . . . . . . . . 0.498 . 0.694 0.694000 . . 0.270000 . . 1.0E-206 0.997 0.399 . 0.413 0.992 . 0.255 . 0.362 0.694 0.871 . . . . . 1 1538 10 1/0 0,209,255 +rs61786589 1 117150736 C G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117150736 117150736 Chr1(GRCh37):g.117150736C>G 1050 1050 NM_001542.3:c.1050G>C p.Lys350Asn p.Lys350Asn 4 603491 -173 5' 74.8217 9.13691 0.930621 4.08131 74.8217 9.13691 0.930621 4.08131 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs61786589 no no 0 C 0.000000 0 0.000008 0.000000 0.000030 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 2 0 1 0 0 1 0 0 0 245948 15304 33582 9848 17248 30780 111410 22296 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 78 Exomes COSM4142213|COSM4142213 Thyroid|Large intestine 0.008032|0.000896 747|2231 transversion G C G>C 0.031 -1.732 K Lys AAG 0.575 N Asn AAC 0.536 350 12 8 Chicken 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 82.71 31.02 Tolerated 0.09 III.67 184 PASS . . . . . . . . . . . . . . . . 0.12169312 . . @ 23 . . 1.2.2016 0 1 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.172 . . 189.0 . . . . . . . . . . -1.6705 -1.692 -1.670 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.665 . . exonic exonic exonic . . 0.015 @ . . . 0.41 0.25 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.500 . . . . . . . Likely_benign . 0 . 0.457 . . . . T 0.470 0.024 . . 37 . 0.281 . . 0.010 . . . 0.181 0.263 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.336 . . 0 0 0 0 0 0 . 0.165 . . 0.190 . . . . . . 0 0.518 . . . . . 0.966 . 0.144 . LowAF 0.08 rs61786589 . . . . . . . . . . . . 19.8322 . . IV.67 -6.95 . 0.100000 . . . . . . 0.114 . . . 0 8.132e-06 2.978e-05 0 0 0 0 0 3.249e-05 . . . . . . . . . . 0.983 . -1.436 -1.436000 . . 0.100000 . . 9.999999999999999E-185 0.109 0.228 . 0.334 0.992 . 0.051 . 0.010 -1.436 -0.771 . rs61786589 rs61786589 rs61786589 rs140699309 1 1538 10 1/0 0,200,255 +rs150982249 1 117150928 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117150928 117150928 Chr1(GRCh37):g.117150928C>T 858 858 NM_001542.3:c.858G>A p.Glu286= p.Glu286Glu 4 603491 26 3' 86.6768 8.78494 0.869087 X.41 86.6768 8.78494 0.869087 X.83 0 Cryptic Acceptor Strongly Activated 117150923 0.002019 1.62702 0.002439 64.8251 Immunoglobulin-like rs150982249 no no 0 T 0.000000 0 COSM3930289|COSM3930289 Urinary tract|Thyroid 0.001488|0.005355 672|747 transition G A G>A 0.961 -0.521 E Glu GAG 0.583 E Glu GAA 0.417 286 249 PASS . . . . . . . . . . . . . . . . 0.30327868 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.2406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.24 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150982249 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.011 . . rs150982249 rs150982249 1 1538 10 1/0 0,237,255 +rs115837117 1 117150933 G A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117150933 117150933 Chr1(GRCh37):g.117150933G>A 853 853 NM_001542.3:c.853C>T p.Leu285= p.Leu285Leu 4 603491 21 3' 86.6768 8.78494 0.869087 X.41 86.6768 8.78494 0.869087 X.72 0 Immunoglobulin-like rs115837117 no no 0 G 0.000000 0 COSM3930291|COSM3930291 Urinary tract|Thyroid 0.001488|0.002677 672|747 transition C T C>T 1.000 1.416 L Leu CTG 0.404 L Leu TTG 0.127 285 254 PASS . . . . . . . . . . . . . . . . 0.31967214 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . I.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.41 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115837117 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . III.75 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.011 . . rs115837117 rs115837117 1 1538 10 1/0 0,239,255 +rs79107296 1 117150966 G T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117150966 117150966 Chr1(GRCh37):g.117150966G>T 833-13 833-13 NM_001542.3:c.833-13C>A p.? p.? 4 3 603491 -13 3' 86.6768 8.78494 0.869087 X.41 84.1102 7.77105 0.758981 X.74 -0.0905717 117150967 -9.1738 rs79107296 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.360 244 PASS . . . . . . . . . . . . . . . . 0.2888889 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . -0.1636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.25 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79107296 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . 0.011 . . rs79107296 rs79107296 1 1538 10 1/0 0,249,255 +rs201074598 1 117156326 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117156326 117156326 Chr1(GRCh37):g.117156326C>T 832+61 832+61 NM_001542.3:c.832+61G>A p.? p.? 3 3 603491 61 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.17725 0 rs201074598 no no 0 C 0.000000 0 transition G A G>A 0.000 -0.198 224 PASS . . . . . . . . . . . . . . . . 0.22627737 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 137.0 . . . . . . . . . . 0.0104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.24 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201074598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs201074598 rs201074598 1 1538 10 1/0 0,223,255 +rs202116033 1 117156333 T C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117156333 117156333 Chr1(GRCh37):g.117156333T>C 832+54 832+54 NM_001542.3:c.832+54A>G p.? p.? 3 3 603491 54 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.44028 0 rs202116033 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.279 230 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.0082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.24 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202116033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs202116033 rs202116033 1 1538 10 1/0 0,222,255 +rs200526371 1 117156340 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117156340 117156340 Chr1(GRCh37):g.117156340C>T 832+47 832+47 NM_001542.3:c.832+47G>A p.? p.? 3 3 603491 47 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 5.86956 0 New Acceptor Site 117156338 0.31499 0.001987 62.6578 rs200526371 no no 0 C 0.000000 0 transition G A G>A 0.024 0.690 235 PASS . . . . . . . . . . . . . . . . 0.25786164 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . . . . . . . . . 0.1377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.19 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200526371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs200526371 rs200526371 1 1538 10 1/0 0,220,255 +rs61786651 1 117156459 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117156459 117156459 Chr1(GRCh37):g.117156459C>T 760 760 NM_001542.3:c.760G>A p.Asp254Asn p.Asp254Asn 3 603491 -73 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.19792 0 Immunoglobulin subtype rs61786651 no no 0 C 0.000000 0 COSM4142217|COSM4142217 Thyroid|Large intestine 0.006693|0.000448 747|2231 transition G A G>A 1.000 4.725 D Asp GAT 0.461 N Asn AAT 0.464 254 12 12 Zebrafish 2 1 2 I.38 I.33 13 11.VI 54 56 23 C15 0.00 23.I Deleterious 0 III.67 247 PASS . . . . . . . . . . . . . . . . 0.2961165 . . @ 61 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.920 . @ . . . . . 1 0.983 . . 206.0 . . . . . . . . . . 0.7382 0.705 0.738 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.237 . . exonic exonic exonic . . 0.603 @ . . . 0.64 0.42 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.642 0.050 . . 37 . 0.401 . . 0.295 . . . 0.897 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.614 . . . . . 0.738 . 0.215 . HET 0.01 rs61786651 . . . . . . . . . . . . 15.3267 . . IV.77 IV.77 . 0.010000 . . . . . . 0.760 . . IV.77 . . . . . . . . . . . . . . . . . . . 0.609 . 2.470 2.470000 . . 0.010000 . . 1.0E-247 1.000 0.715 . 0.604 0.989 . 0.812 . 0.439 2.470 0.871 . rs61786651 rs61786651 rs61786651 rs61786651 1 1538 10 1/0 0,213,255 +rs61786652 1 117156490 T C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117156490 117156490 Chr1(GRCh37):g.117156490T>C 729 729 NM_001542.3:c.729A>G p.Glu243= p.Glu243Glu 3 603491 -104 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.29854 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin V-set, subgroup rs61786652 yes no Frequency 1 T 0.000000 0 0.000152 0.000166 0.000000 0.000000 0.000000 0.000000 0.000301 0.000000 0.000000 0.000301 42 4 0 0 0 0 38 0 0 276846 24030 34416 10146 18862 30782 126362 25788 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 4 0 0 0 0 38 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5482775 Large intestine 0.000448 2231 transition A G A>G 1.000 1.416 E Glu GAA 0.417 E Glu GAG 0.583 243 253 PASS . . . . . . . . . . . . . . . . 0.315508 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . I.06 . . . . . . . . 1.973e-04 . . . 0 0.0001 8.675e-05 0 0 0.0003 0 0 0 0.0002 8.946e-05 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.59 0.34 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . 741 0.0114042 64976 741 0.0123529 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61786652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.91 0 0.0001 0 0 0 0 0.0003 0 0 0.0005 0.0004 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs61786652 rs61786652 rs61786652 rs61786652 1 1538 10 1/0 0,219,255 +rs143106517 1 117156584 T C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117156584 117156584 Chr1(GRCh37):g.117156584T>C 635 635 NM_001542.3:c.635A>G p.Gln212Arg p.Gln212Arg 3 603491 -198 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.29854 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin V-set, subgroup rs143106517 yes no Frequency 1 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245932 15294 33582 9850 17246 30782 111396 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes COSM4142219|COSM4142219 Thyroid|Large intestine 0.005355|0.000896 747|2231 transition A G A>G 1.000 2.546 Q Gln CAG 0.744 R Arg CGG 0.207 212 12 12 Zebrafish 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C35 0.00 42.81 Deleterious 0 III.67 191 PASS . . . . . . . . . . . . . . . . 0.13836478 . . @ 22 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.406 . @ . . . . . 1 0.863 . . 159.0 . . . . . . . . . . 0.0681 0.132 0.068 c . . . . . 7.893e-06 . . . 0 1.108e-05 0 0 0 2.392e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.643 . . exonic exonic exonic . . 0.419 @ . . . 0.55 0.39 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.514 0.029 . . 37 . 0.459 . . 0.491 . . . 0.586 0.537 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.343 . . 0.481 . . . . . . 0 0.259 . . . . . 0.353 . 0.519 . LowAF 0 rs143106517 . . . . . . . . . . . . 9.0413 . . 4.IX III.74 . 0.140000 . . . . . . 0.600 . . III.74 0 4.066e-06 0 0 0 0 8.977e-06 0 0 . . . . . . . . . . 0.609 . 0.854 0.854000 . . 0.140000 . . 1.0E-191 1.000 0.715 . 0.888 1.000 . 0.622 . 0.756 0.854 0.991 . . . rs143106517 rs143106517 1 1538 10 1/0 0,210,255 +rs139013364 1 117156585 G A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution stop gain exon GRCh37 117156585 117156585 Chr1(GRCh37):g.117156585G>A 634 634 NM_001542.3:c.634C>T p.Gln212* p.Gln212* 3 603491 -199 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.29854 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin V-set, subgroup rs139013364 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245914 15292 33582 9850 17242 30782 111384 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes COSM4142221|COSM4142221 Thyroid|Large intestine 0.004016|0.000896 747|2231 transition C T C>T 1.000 4.806 Q Gln CAG 0.744 * * TAG 0.234 212 189 PASS . . . . . . . . . . . . . . . . 0.1329114 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.973 . @ . . . . . 0 0.924 . . 158.0 . . . . . . . . . . 1.0641 0.896 1.064 c . . . . . 7.893e-06 . . . 0 1.108e-05 0 0 0 2.391e-05 0 0 . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.635 @ . . . 0.58 0.43 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.764 . . . LowAF 0.08 rs139013364 . . . . . . . . . . . . 15.6113 . . 4.IX 4.IX . 0.230000 . . . . . . 0.775 . . 4.IX 0 4.066e-06 0 0 0 0 8.978e-06 0 0 . . . . . . . . . . 0.609 . 2.539 2.539000 . . 0.230000 . . 1.0E-189 1.000 0.715 . 0.750 1.000 . 0.844 . 0.661 2.539 0.917 . . . rs139013364 rs139013364 1 1538 10 1/0 0,210,255 +rs547741844 1 117156600 T C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117156600 117156600 Chr1(GRCh37):g.117156600T>C 619 619 NM_001542.3:c.619A>G p.Ser207Gly p.Ser207Gly 3 603491 198 3' 89.2239 5.92996 0.450434 8.73907 89.2239 5.92996 0.450434 8.73907 0 Cryptic Acceptor Strongly Activated 117156595 3.73138 0.05442 5.39877 0.048153 78.7897 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin V-set, subgroup rs547741844 yes no Frequency 1 T 0.000000 0 0.000012 0.000065 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000065 3 1 0 0 0 0 2 0 0 246022 15300 33582 9850 17248 30782 111480 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes COSM1600613|COSM1600613|COSM1600613|COSM1600613 Thyroid|Liver|Large intestine|Haematopoietic and lymphoid tissue 0.002677|0.000844|0.001793|0.000283 747|2371|2231|3531 transition A G A>G 1.000 1.335 S Ser AGC 0.243 G Gly GGC 0.342 207 12 9 Cow 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 55.27 0.00 Tolerated 0.89 III.67 186 PASS . . . . . . . . . . . . . . . . 0.12676056 . . @ 18 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 1 0.012 . . 142.0 . . . . . . . . . . -0.9312 -0.685 -0.931 c . . . . . 1.579e-05 . . . 9.679e-05 2.209e-05 0 0 0 2.381e-05 0 0 0.0001 9.427e-06 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.162 . . exonic exonic exonic . . 0.311 @ . . . . . . ENSG00000143061 IGSF3 IGSF3 . . . 0.994 0.335 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.180 0.007 . . 37 . 0.011 . . 0.472 . . . 0.003 0.337 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.010 . . . . . 0.209 . 0.143 . LowAF 1 rs547741844 . 0.007 . . . . . . . . . . VI.08 . . 5.II II.73 . 1.000000 . . . . . . 0.320 . . II.73 6.536e-05 1.219e-05 0 0 0 0 1.794e-05 0 0 . . . . . . . . . . 0.609 . 0.407 0.407000 . . 1.000000 . . 1.0E-186 1.000 0.715 . 0.523 1.000 . 0.546 . 0.099 0.407 0.991 . . . . . 1 1538 10 1/0 0,214,255 +rs61786655 1 117158690 G C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117158690 117158690 Chr1(GRCh37):g.117158690G>C 421+12 421+12 NM_001542.3:c.421+12C>G p.? p.? 2 2 603491 12 5' 81.8924 9.08182 0.982295 0 81.8924 9.08182 0.982295 0 0 New Donor Site 117158691 2.56719 0.048907 72.4613 rs61786655 no no 0 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 228894 14994 31616 8132 17080 26830 103998 21182 5062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes transversion C G C>G 0.000 -0.602 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.0105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.32 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs61786655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.369e-06 0 0 0 0 9.616e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs61786655 rs61786655 rs61786655 rs61786655 1 1538 10 1/0 0,245,255 +. 1 119964748 T C - HSD3B2 5218 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 NM_000198.3 1 1710 1119 NP_000189.1 P26439 substitution synonymous exon GRCh37 119964748 119964748 Chr1(GRCh37):g.119964748T>C 624 624 NM_000198.3:c.624T>C p.Asn208= p.Asn208Asn 4 613890 317 3' 84.018 8.64724 0.902857 8.23827 84.018 8.64724 0.902857 8.23827 0 3-beta hydroxysteroid dehydrogenase/isomerase NAD-dependent epimerase/dehydratase Male sterility, NAD-binding dTDP-4-dehydrorhamnose reductase rs1040579140 yes no Frequency 1 T 0.000000 0 0.000004 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000065 1 1 0 0 0 0 0 0 0 246020 15300 33568 9842 17202 30780 111552 22300 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 93 Exomes transition T C T>C 0.000 -2.700 N Asn AAT 0.464 N Asn AAC 0.536 208 255 PASS . . . . . . . . . . . . . . . . 0.5565217 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . . . . . . . -0.3475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203859 HSD3B2 HSD3B2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.536e-05 4.065e-06 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 120612040 T TCCGCCGCCGCCG - NOTCH2 7882 Notch 2 NM_024408.3 -1 11466 7416 NP_077719.2 Q04721 duplication 5'UTR GRCh37 120612040 120612041 Chr1(GRCh37):g.120612041_120612052dup -32 -21 NM_024408.3:c.-32_-21dup p.? p.? 1 600275 -93 5' 86.8199 10.1256 0.968101 16.0233 86.8199 10.1256 0.968101 16.0233 0 CGGCGGCGGCGG 255 Pass . . . . . . . . . . . . . . . . 0.12080537 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000134250 NOTCH2 NOTCH2 ENST00000256646:c.-21_-20insCGGCGGCGGCGG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,92 +rs80167677 (chr1:142542812 T/G) 1 142542812 T G Not on a known gene +rs77960743 (chr1:142542817 A/C) 1 142542817 A C Not on a known gene +rs796276233 (chr1:142542820 G/A) 1 142542820 G A Not on a known gene +. (chr1:142542838 G/A) 1 142542838 G A Not on a known gene +rs113950138 (chr1:142542846 A/C) 1 142542846 A C Not on a known gene +rs796322917 (chr1:142542847 G/A) 1 142542847 G A Not on a known gene +rs78044540 (chr1:142542861 T/G) 1 142542861 T G Not on a known gene +rs796416486 (chr1:142542865 A/G) 1 142542865 A G Not on a known gene +rs12164691 (chr1:142542905 A/G) 1 142542905 A G Not on a known gene +rs7555663 (chr1:142542921 A/G) 1 142542921 A G Not on a known gene +rs7521801 (chr1:142542922 G/A) 1 142542922 G A Not on a known gene +rs200534630 (chr1:142813274 T/A) 1 142813274 T A Not on a known gene +. (chr1:142813302 A/G) 1 142813302 A G Not on a known gene +rs374074638 (chr1:142826248 C/T) 1 142826248 C T Not on a known gene +rs111875671 (chr1:142826252 T/A) 1 142826252 T A Not on a known gene +rs879208916 (chr1:142826303 G/A) 1 142826303 G A Not on a known gene +. (chr1:142826355 CA/C) 1 142826355 CA C Not on a known gene +rs4118755 (chr1:142826369 C/A) 1 142826369 C A Not on a known gene +rs148286076 (chr1:143210142 T/A) 1 143210142 T A Not on a known gene +rs76689679 (chr1:143210178 T/A) 1 143210178 T A Not on a known gene +rs150660353 (chr1:143210184 G/A) 1 143210184 G A Not on a known gene +rs143209660 (chr1:143210197 T/C) 1 143210197 T C Not on a known gene +rs374111110 (chr1:143210199 T/C) 1 143210199 T C Not on a known gene +rs78947755 (chr1:143210213 G/T) 1 143210213 G T Not on a known gene +rs61785385 (chr1:143210222 A/T) 1 143210222 A T Not on a known gene +rs202146885 (chr1:143223297 A/C) 1 143223297 A C Not on a known gene +. (chr1:143223322 T/C) 1 143223322 T C Not on a known gene +rs9699580 (chr1:143223350 A/T) 1 143223350 A T Not on a known gene +rs200205288 (chr1:143223423 T/A) 1 143223423 T A Not on a known gene +rs2657635 (chr1:143378085 C/T) 1 143378085 C T Not on a known gene +rs61801873 (chr1:144148910 T/G) 1 144148910 T G Not on a known gene +. (chr1:144149677 G/A) 1 144149677 G A Not on a known gene +. (chr1:144151672 G/C) 1 144151672 G C Not on a known gene +. (chr1:144152941 C/T) 1 144152941 C T Not on a known gene +. (chr1:144158075 C/T) 1 144158075 C T Not on a known gene +. (chr1:144158162 C/A) 1 144158162 C A Not on a known gene +. (chr1:144158979 G/A) 1 144158979 G A Not on a known gene +. (chr1:144160741 A/C) 1 144160741 A C Not on a known gene +. (chr1:144160743 T/C) 1 144160743 T C Not on a known gene +. (chr1:144164399 C/T) 1 144164399 C T Not on a known gene +. (chr1:144164438 T/C) 1 144164438 T C Not on a known gene +. (chr1:144164533 C/A) 1 144164533 C A Not on a known gene +. (chr1:144165288 C/A) 1 144165288 C A Not on a known gene +. (chr1:144165358 G/A) 1 144165358 G A Not on a known gene +. (chr1:144165413 A/C) 1 144165413 A C Not on a known gene +. (chr1:144165497 A/C) 1 144165497 A C Not on a known gene +. (chr1:144165499 T/C) 1 144165499 T C Not on a known gene +. (chr1:144170235 A/C) 1 144170235 A C Not on a known gene +. (chr1:144170237 T/C) 1 144170237 T C Not on a known gene +. (chr1:144173287 G/A) 1 144173287 G A Not on a known gene +. (chr1:144173342 A/C) 1 144173342 A C Not on a known gene +. (chr1:144173428 T/C) 1 144173428 T C Not on a known gene +. (chr1:144176120 T/C) 1 144176120 T C Not on a known gene +. (chr1:144182825 C/T) 1 144182825 C T Not on a known gene +. (chr1:144186601 G/C) 1 144186601 G C Not on a known gene +. (chr1:144187589 C/T) 1 144187589 C T Not on a known gene +. (chr1:144188519 C/A) 1 144188519 C A Not on a known gene +. (chr1:144193112 C/A) 1 144193112 C A Not on a known gene +. (chr1:144194086 A/C) 1 144194086 A C Not on a known gene +rs202159209 (chr1:144194088 T/C) 1 144194088 T C Not on a known gene +rs782687822 (chr1:144197105 C/T) 1 144197105 C T Not on a known gene +. (chr1:144198637 C/A) 1 144198637 C A Not on a known gene +. (chr1:144198707 G/A) 1 144198707 G A Not on a known gene +. (chr1:144198762 A/C) 1 144198762 A C Not on a known gene +. (chr1:144198846 A/C) 1 144198846 A C Not on a known gene +. (chr1:144198848 T/C) 1 144198848 T C Not on a known gene +. (chr1:144201947 A/C) 1 144201947 A C Not on a known gene +. (chr1:144202031 A/C) 1 144202031 A C Not on a known gene +. (chr1:144202033 T/C) 1 144202033 T C Not on a known gene +. (chr1:144205054 C/T) 1 144205054 C T Not on a known gene +. (chr1:144205976 T/A) 1 144205976 T A Not on a known gene +. (chr1:144206013 T/A) 1 144206013 T A Not on a known gene +. (chr1:144213032 G/A) 1 144213032 G A Not on a known gene +. (chr1:144216145 C/A) 1 144216145 C A Not on a known gene +. (chr1:144216215 G/A) 1 144216215 G A Not on a known gene +. (chr1:144216270 A/C) 1 144216270 A C Not on a known gene +. (chr1:144220142 C/A) 1 144220142 C A Not on a known gene +rs111940957 (chr1:144220974 G/A) 1 144220974 G A Not on a known gene +rs868986416 (chr1:144221029 A/C) 1 144221029 A C Not on a known gene +rs61802098 (chr1:144221113 A/C) 1 144221113 A C Not on a known gene +rs61802099 (chr1:144221115 T/C) 1 144221115 T C Not on a known gene +rs200241118 1 144364195 T C - PPIAL4A 24369 Peptidylprolyl isomerase A like 4A NM_001143883.3 -1 660 495 NP_001137355.1 Q9Y536 substitution 5'UTR GRCh37 144364195 144364195 Chr1(GRCh37):g.144364195T>C -24 -24 NM_001143883.3:c.-24A>G p.? p.? 1 rs200241118 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -4.718 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -1.2698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.59 0.44 182 ENSG00000255854 PPIAL4B . ENST00000540273:c.-24A>G uc001ekw.3:c.-24A>G NM_001143883:c.-24A>G\x3bNM_001135789:c.-24A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs200241118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2814239 rs2814239 rs2814239 rs200241118 1 1538 255 1.I 0,0,255 +. 1 144364250 T G - PPIAL4A 24369 Peptidylprolyl isomerase A like 4A NM_001143883.3 -1 660 495 NP_001137355.1 Q9Y536 substitution upstream GRCh37 144364250 144364250 Chr1(GRCh37):g.144364250T>G -79 -79 NM_001143883.3:c.-79A>C p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 2 0 2 0 0 34 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 502 Genomes transversion A C A>C 0.000 -1.086 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.6937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.16 182 ENSG00000231360 . NBPF20 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . . 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2814238 rs2814238 rs2814238 rs2814238 1 1538 255 1.I 0,0,255 +rs782118341 1 144619466 A G - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144619466 144619466 Chr1(GRCh37):g.144619466A>G 736+47 736+47 NR_102404.1:n.736+47A>G p.? p.? 4 4 613998 47 5' 81.9751 8.87834 0.96301 0 81.9751 8.87834 0.96301 0 0 rs782118341 yes no Frequency 1 0.000000 0 0.000947 0.003961 0.000125 0.000618 0.000165 0.000101 0.001201 0.000361 0.000170 0.003961 242 77 4 6 3 3 139 9 1 255436 19438 31900 9708 18212 29630 115744 24920 5884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242 77 4 6 3 3 139 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.521 211 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.3334 . . . . . . . . 1.186e-04 . . . 0.0003 7.914e-05 0 0 0 9.771e-05 0 0 0.0004 6.733e-05 0 0 0 7.521e-05 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.07 182 ENSG00000225241 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs782118341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.387e-05 6.872e-05 3.201e-05 0.0001 0 0 9.518e-05 0 0.0001 0.0129 0.01 0.0046 0.0194 0.0022 0.0031 0.0121 0.0013 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . rs80293356 rs182009663 1 1538 10 1/0 0,236,255 +. 1 144677314 G C - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144677314 144677314 Chr1(GRCh37):g.144677314G>C 1158+55658 1158+55658 NR_102404.1:n.1158+55658G>C p.? p.? 6 6 613998 55658 5' 73.3142 5.95993 0.947281 I.86 73.3142 5.95993 0.947281 I.86 0 0.000224 0.000000 0.000665 0.000000 0.000000 0.001083 0.000000 0.000000 0.000000 0.001083 7 0 3 0 0 4 0 0 0 31196 2704 4508 882 5542 3692 12552 454 862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 3 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 58 Exomes transversion G C G>C 1.000 0.286 201 PASS . . . . . . . . . . . . . . . . 0.1625 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . 0.9965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . . . . ENSG00000215861 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0007 0 0 0 0 0 0.0011 . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs7411539 1 144811842 C G - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144811842 144811842 Chr1(GRCh37):g.144811842C>G 1159-1900 1159-1900 NR_102404.1:n.1159-1900C>G p.? p.? 7 6 613998 -1900 3' 88.016 9.98334 0.865815 3.37098 88.016 9.98334 0.865815 3.37098 0 rs7411539 yes no Frequency 1 0.000000 0 0.001387 0.005932 0.000857 0.000529 0.002566 0.000307 0.000909 0.001584 0.001900 0.005932 345 112 28 5 42 9 105 33 11 248782 18882 32672 9446 16368 29322 115474 20828 5790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 345 112 28 5 42 9 105 33 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.043 0.609 205 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.7078 . . . . . . . . 1.931e-04 . . . 0.0002 9.927e-05 0 0 0 0.0001 0.0015 0 0.0003 8.369e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.29 0.14 182 ENSG00000168614 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 rs7411539 . . . . . . . . . . . . . . ENST00000375552 0.59 0.59 . 0.020000 . . . . . . . . . . 0.0007 0.0006 0.0007 0.0005 0.0020 5.543e-05 0.0005 0.0014 0.0003 0.0181 0.0090 0.0096 0 0.0102 0.0115 0.0044 0.0056 . . . . 0.598 0.598000 . . 0.020000 . . 1.0E-205 . . . . . . . . . 0.598 . . rs7411539 rs71230296 rs7411539 rs7411539 1 1538 10 1/0 0,255,255 +. (chr1:144814763 G/T) 1 144814763 G T Transcript NR_102404.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) NBPF8 +rs797023053 (chr1:144816621 A/G) 1 144816621 A G Transcript NR_102404.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) NBPF8 +rs200950584 1 144825790 T C - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144825790 144825790 Chr1(GRCh37):g.144825790T>C 2257+265 2257+265 NR_102404.1:n.2257+265T>C p.? p.? 15 15 613998 265 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 rs200950584 no no 0 0.000000 0 0.000815 0.002206 0.000623 0.000233 0.002698 0.000073 0.000509 0.000285 0.000640 0.002698 90 26 10 1 25 1 23 2 2 110456 11784 16060 4284 9266 13734 45186 7018 3124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 90 26 10 1 25 1 23 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.035 0.448 201 PASS . . . . . . . . . . . . . . . . 0.16363636 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . . . . . . . . . -0.7140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing intronic intronic . . . @ . . . 0.5 0.15 182 ENSG00000168614 . . ENST00000281815:exon11:c.349+2T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200950584 . . . . . . . . . . . . . . ENST00000281815 0.457 0.457 . . . . . . . . . . . . 0 0.0001 0.0005 0 0.0001 0 5.946e-05 0 7.281e-05 0.0039 0.0033 0.0030 0.0055 0.0235 0.0006 0.0018 0.0027 . . . . 0.407 0.407000 . . . . . 1.0E-201 . . . . . . . . . 0.407 . . . rs71278191 rs200950584 rs200950584 1 1538 10 1/0 0,255,255 +rs369634487 1 144825806 G C - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144825806 144825806 Chr1(GRCh37):g.144825806G>C 2257+281 2257+281 NR_102404.1:n.2257+281G>C p.? p.? 15 15 613998 281 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 144825824 7.4e-05 71.6045 0.801323 0.0001 71.6045 rs369634487 no no 0 0.000000 0 0.001196 0.003317 0.000516 0.000272 0.003734 0.000259 0.000809 0.000657 0.000674 0.003734 120 37 8 1 32 3 33 4 2 100308 11154 15512 3682 8570 11562 40772 6090 2966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 37 8 1 32 3 33 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.35555556 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.6512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.08 182 ENSG00000168614 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369634487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0004 0.0003 0.0009 0.0010 0.0002 0 0.0003 0.0054 0.0039 0.0030 0 0.0253 0.0003 0.0024 0.0026 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71242654 rs369634487 . 1 1538 10 1/0 0,255,255 +. 1 144825842 T C - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144825842 144825842 Chr1(GRCh37):g.144825842T>C 2257+317 2257+317 NR_102404.1:n.2257+317T>C p.? p.? 15 15 613998 317 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.028 -0.602 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.4169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.1 182 ENSG00000168614 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201797121 1 145298281 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145298281 145298281 Chr1(GRCh37):g.145298281T>C 693 693 NM_001039703.4:c.693T>C p.Phe231= p.Phe231Phe 5 614000 -86 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.777623 2.13999 0 DUF1220 rs201797121 yes no Frequency 1 0.000000 0 0.000024 0.000045 0.000032 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000045 6 1 1 0 0 0 4 0 0 251258 22102 31676 9144 17720 28884 111186 24566 5980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -0.037 F Phe TTT 0.454 F Phe TTC 0.546 231 224 PASS . . . . . . . . . . . . . . . . 0.22566372 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.2823 -0.212 -0.282 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.122 @ . . . 0.46 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.084 0.160 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.084 . . . HET . rs201797121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.533e-06 3.242e-05 0 0 0 0 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . . . . . . . . 1.0E-224 0.000 0.063 . 0.182 . . 0.102 . 0.255 . . . . rs71527380 rs71527380 rs201797121 1 1538 10 1/0 0,203,255 +rs201797121 1 145298281 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution synonymous exon GRCh37 145298281 145298281 Chr1(GRCh37):g.145298281T>C 693 693 NM_001351372.1:c.693T>C p.Phe231= p.Phe231Phe 5 -86 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.777623 2.13999 0 rs201797121 yes no Frequency 1 0.000000 0 0.000024 0.000045 0.000032 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000045 6 1 1 0 0 0 4 0 0 251258 22102 31676 9144 17720 28884 111186 24566 5980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -0.037 F Phe TTT 0.454 F Phe TTC 0.546 231 224 PASS . . . . . . . . . . . . . . . . 0.22566372 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.2823 -0.212 -0.282 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.122 @ . . . 0.46 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.084 0.160 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.084 . . . HET . rs201797121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.533e-06 3.242e-05 0 0 0 0 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . . . . . . . . 1.0E-224 0.000 0.063 . 0.182 . . 0.102 . 0.255 . . . . rs71527380 rs71527380 rs201797121 1 1538 10 1/0 0,203,255 +rs201797121 1 145298281 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution synonymous exon GRCh37 145298281 145298281 Chr1(GRCh37):g.145298281T>C 693 693 NM_001277444.1:c.693T>C p.Phe231= p.Phe231Phe 6 613999 -86 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.777623 2.13999 0 rs201797121 yes no Frequency 1 0.000000 0 0.000024 0.000045 0.000032 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000045 6 1 1 0 0 0 4 0 0 251258 22102 31676 9144 17720 28884 111186 24566 5980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -0.037 F Phe TTT 0.454 F Phe TTC 0.546 231 224 PASS . . . . . . . . . . . . . . . . 0.22566372 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.2823 -0.212 -0.282 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.122 @ . . . 0.46 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.084 0.160 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.084 . . . HET . rs201797121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.533e-06 3.242e-05 0 0 0 0 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . . . . . . . . 1.0E-224 0.000 0.063 . 0.182 . . 0.102 . 0.255 . . . . rs71527380 rs71527380 rs201797121 1 1538 10 1/0 0,203,255 +rs200081155 1 145298363 C T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145298363 145298363 Chr1(GRCh37):g.145298363C>T 775 775 NM_001039703.4:c.775C>T p.Pro259Ser p.Pro259Ser 5 614000 -4 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.81636 2.20655 0.0166049 Cryptic Acceptor Weakly Activated 145298367 6.19196 0.327827 77.8462 6.44518 0.407992 77.8462 rs200081155 yes no Frequency 1 0.000000 0 0.000028 0.000098 0.000000 0.000000 0.000000 0.000043 0.000032 0.000000 0.000000 0.000098 6 2 0 0 0 1 3 0 0 216008 20326 27666 7170 15822 23510 94316 21962 5236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.020 0.932 P Pro CCA 0.274 S Ser TCA 0.148 259 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 185 PASS . . . . . . . . . . . . . . . . 0.12352941 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.112 . . 170.0 . . . . . . . . . . -0.6462 -0.855 -0.646 c . . . . . 4.143e-05 . . . 0.0005 0.0001 0 0 0 6.005e-05 0 0.0001 0.0006 7.808e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.195 @ . . . 0.53 0.58 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.159 0.176 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.017 . . 0.481 . . . 0.612 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.172 . 0.206 . LowAF 0 rs200081155 . . . . . . . . . . . . V.69 . . 1.XI 1.XI . 0.100000 . . . . . . 0.022 . . . 8.612e-05 2.698e-05 0 0 0 0 3.774e-05 0 4.254e-05 0.0001 3.257e-05 0 0 0 0 0 0 . . 0.609 . 0.940 0.940000 . . 0.100000 . . 1.0E-185 0.083 0.222 . 0.095 0.006 . 0.336 . 0.284 0.940 0.351 . rs61810898 rs61810898 rs61810898 rs200081155 1 1538 10 1.I 0,0,0 +rs200081155 1 145298363 C T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145298363 145298363 Chr1(GRCh37):g.145298363C>T 775 775 NM_001351372.1:c.775C>T p.Pro259Ser p.Pro259Ser 5 -4 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.81636 2.20655 0.0166049 Cryptic Acceptor Weakly Activated 145298367 6.19196 0.327827 77.8462 6.44518 0.407992 77.8462 rs200081155 yes no Frequency 1 0.000000 0 0.000028 0.000098 0.000000 0.000000 0.000000 0.000043 0.000032 0.000000 0.000000 0.000098 6 2 0 0 0 1 3 0 0 216008 20326 27666 7170 15822 23510 94316 21962 5236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.020 0.932 P Pro CCA 0.274 S Ser TCA 0.148 259 11 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.26 IV.32 185 PASS . . . . . . . . . . . . . . . . 0.12352941 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.112 . . 170.0 . . . . . . . . . . -0.6462 -0.855 -0.646 c . . . . . 4.143e-05 . . . 0.0005 0.0001 0 0 0 6.005e-05 0 0.0001 0.0006 7.808e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.195 @ . . . 0.53 0.58 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.159 0.176 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.017 . . 0.481 . . . 0.612 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.172 . 0.206 . LowAF 0 rs200081155 . . . . . . . . . . . . V.69 . . 1.XI 1.XI . 0.100000 . . . . . . 0.022 . . . 8.612e-05 2.698e-05 0 0 0 0 3.774e-05 0 4.254e-05 0.0001 3.257e-05 0 0 0 0 0 0 . . 0.609 . 0.940 0.940000 . . 0.100000 . . 1.0E-185 0.083 0.222 . 0.095 0.006 . 0.336 . 0.284 0.940 0.351 . rs61810898 rs61810898 rs61810898 rs200081155 1 1538 10 1.I 0,0,0 +rs200081155 1 145298363 C T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution missense exon GRCh37 145298363 145298363 Chr1(GRCh37):g.145298363C>T 775 775 NM_001277444.1:c.775C>T p.Pro259Ser p.Pro259Ser 6 613999 -4 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.81636 2.20655 0.0166049 Cryptic Acceptor Weakly Activated 145298367 6.19196 0.327827 77.8462 6.44518 0.407992 77.8462 rs200081155 yes no Frequency 1 0.000000 0 0.000028 0.000098 0.000000 0.000000 0.000000 0.000043 0.000032 0.000000 0.000000 0.000098 6 2 0 0 0 1 3 0 0 216008 20326 27666 7170 15822 23510 94316 21962 5236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.020 0.932 P Pro CCA 0.274 S Ser TCA 0.148 259 11 2 Western lowland gorilla -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Deleterious 0 IV.32 185 PASS . . . . . . . . . . . . . . . . 0.12352941 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.112 . . 170.0 . . . . . . . . . . -0.6462 -0.855 -0.646 c . . . . . 4.143e-05 . . . 0.0005 0.0001 0 0 0 6.005e-05 0 0.0001 0.0006 7.808e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.195 @ . . . 0.53 0.58 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.159 0.176 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.017 . . 0.481 . . . 0.612 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.172 . 0.206 . LowAF 0 rs200081155 . . . . . . . . . . . . V.69 . . 1.XI 1.XI . 0.100000 . . . . . . 0.022 . . . 8.612e-05 2.698e-05 0 0 0 0 3.774e-05 0 4.254e-05 0.0001 3.257e-05 0 0 0 0 0 0 . . 0.609 . 0.940 0.940000 . . 0.100000 . . 1.0E-185 0.083 0.222 . 0.095 0.006 . 0.336 . 0.284 0.940 0.351 . rs61810898 rs61810898 rs61810898 rs200081155 1 1538 10 1.I 0,0,0 +rs201650661 1 145299894 C G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145299894 145299894 Chr1(GRCh37):g.145299894C>G 943 943 NM_001039703.4:c.943C>G p.Leu315Val p.Leu315Val 6 614000 -46 5' 73.3142 5.95993 0.947281 0.475889 73.3142 5.95993 0.947281 0.665304 0 New Donor Site 145299893 0.48099 0.003823 62.0499 rs201650661 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.000468 0.000351 0.001399 0.001480 0.000216 0.000780 0.000168 0.000039 0.001098 0.001480 128 8 48 15 4 24 21 1 7 273250 22782 34308 10138 18504 30764 124964 25414 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128 8 48 15 4 24 21 1 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 L Leu CTA 0.070 V Val GTA 0.114 315 1 1 1 0 0 4.IX 5.IX 111 84 32 219 PASS . . . . . . 0.0004 . . 0.001 0.001 . . . . . 0.21153846 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.024 . . 52.0 . . . . . . . . . . -2.0428 -2.125 -2.043 c . . . . . 2.686e-04 . . . 0.0001 0.0004 0.0010 0 0 0.0002 0 0.0007 0.0001 0.0003 0.0011 0 0 0.0002 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 0.0004 . . . 0.49 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.104 0.165 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.008 . . 0.449 . . . 0.009 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.126 . . 0.063 . . . . . . 3 . . . . . . 0.037 . 0.014 . HET 1 rs201650661 . . . . . . . . . . . . II.92 . . 1.V -0.226 . 1.000000 Q86T75-2 . . . . . 0.019 . . . 0 0.0004 0.0014 0.0015 0 0 0.0001 0.0011 0.0008 0.0011 0.0009 0.0026 0 0.0029 0.0003 0.0006 0.0011 . . 0.465 . -0.620 -0.620000 . . 1.000000 . . 1.0E-219 0.000 0.063 . 0.016 . . 0.004 . 0.005 -0.620 . . . . rs201650661 rs201650661 1 1538 10 1/0 0,255,255 +rs201650661 1 145299894 C G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145299894 145299894 Chr1(GRCh37):g.145299894C>G 943 943 NM_001351372.1:c.943C>G p.Leu315Val p.Leu315Val 6 -46 5' 73.3142 5.95993 0.947281 0.776796 73.3142 5.95993 0.947281 0.966211 0 New Donor Site 145299893 0.48099 0.003823 62.0499 rs201650661 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.000468 0.000351 0.001399 0.001480 0.000216 0.000780 0.000168 0.000039 0.001098 0.001480 128 8 48 15 4 24 21 1 7 273250 22782 34308 10138 18504 30764 124964 25414 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128 8 48 15 4 24 21 1 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 L Leu CTA 0.070 V Val GTA 0.114 315 11 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.62 IV.32 219 PASS . . . . . . 0.0004 . . 0.001 0.001 . . . . . 0.21153846 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.024 . . 52.0 . . . . . . . . . . -2.0428 -2.125 -2.043 c . . . . . 2.686e-04 . . . 0.0001 0.0004 0.0010 0 0 0.0002 0 0.0007 0.0001 0.0003 0.0011 0 0 0.0002 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 0.0004 . . . 0.49 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.104 0.165 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.008 . . 0.449 . . . 0.009 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.126 . . 0.063 . . . . . . 3 . . . . . . 0.037 . 0.014 . HET 1 rs201650661 . . . . . . . . . . . . II.92 . . 1.V -0.226 . 1.000000 Q86T75-2 . . . . . 0.019 . . . 0 0.0004 0.0014 0.0015 0 0 0.0001 0.0011 0.0008 0.0011 0.0009 0.0026 0 0.0029 0.0003 0.0006 0.0011 . . 0.465 . -0.620 -0.620000 . . 1.000000 . . 1.0E-219 0.000 0.063 . 0.016 . . 0.004 . 0.005 -0.620 . . . . rs201650661 rs201650661 1 1538 10 1/0 0,255,255 +rs201650661 1 145299894 C G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution missense exon GRCh37 145299894 145299894 Chr1(GRCh37):g.145299894C>G 943 943 NM_001277444.1:c.943C>G p.Leu315Val p.Leu315Val 7 613999 -46 5' 73.3142 5.95993 0.947281 0.776796 73.3142 5.95993 0.947281 0.966211 0 New Donor Site 145299893 0.48099 0.003823 62.0499 rs201650661 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.000468 0.000351 0.001399 0.001480 0.000216 0.000780 0.000168 0.000039 0.001098 0.001480 128 8 48 15 4 24 21 1 7 273250 22782 34308 10138 18504 30764 124964 25414 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128 8 48 15 4 24 21 1 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 L Leu CTA 0.070 V Val GTA 0.114 315 11 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.57 IV.32 219 PASS . . . . . . 0.0004 . . 0.001 0.001 . . . . . 0.21153846 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.024 . . 52.0 . . . . . . . . . . -2.0428 -2.125 -2.043 c . . . . . 2.686e-04 . . . 0.0001 0.0004 0.0010 0 0 0.0002 0 0.0007 0.0001 0.0003 0.0011 0 0 0.0002 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 0.0004 . . . 0.49 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.104 0.165 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.008 . . 0.449 . . . 0.009 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.126 . . 0.063 . . . . . . 3 . . . . . . 0.037 . 0.014 . HET 1 rs201650661 . . . . . . . . . . . . II.92 . . 1.V -0.226 . 1.000000 Q86T75-2 . . . . . 0.019 . . . 0 0.0004 0.0014 0.0015 0 0 0.0001 0.0011 0.0008 0.0011 0.0009 0.0026 0 0.0029 0.0003 0.0006 0.0011 . . 0.465 . -0.620 -0.620000 . . 1.000000 . . 1.0E-219 0.000 0.063 . 0.016 . . 0.004 . 0.005 -0.620 . . . . rs201650661 rs201650661 1 1538 10 1/0 0,255,255 +rs61816398 1 145312692 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145312692 145312692 Chr1(GRCh37):g.145312692C>A 1854-642 1854-642 NM_001039703.4:c.1854-642C>A p.? p.? 14 13 614000 -642 3' 92.4426 10.0294 0.96652 XII.04 92.4426 10.0294 0.96652 XII.04 0 rs61816398 yes no Frequency 1 0.000000 0 0.000184 0.000000 0.000217 0.000000 0.000000 0.000000 0.000274 0.001650 0.000000 0.001650 9 0 2 0 0 0 5 2 0 49006 4712 9216 1208 7312 5698 18248 1212 1400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 2 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 79 Exomes transversion C A C>A 0.004 0.448 222 PASS . . . . . . . . . . . ENSG00000163386:ENST00000369338:exon11:c.C1222A:p.Q408K . . . . 0.22580644 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.059 . . 31.0 . . . . . . . . . . -0.6910 -0.924 -0.691 c . . . . . 3.281e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . NBPF10 . . . 0.014 0.126 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.014 . . 0.476 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.100 . HET 0.07 rs61816398 . . . . . . . . . . . . . . . . . . 0.100000 . . . . . . 0.027 . . . 0 0.0002 0.0002 0 0 0.0017 0.0003 0 0 . . . . . . . . . . 0.133 . 0.453 0.453000 . . 0.100000 . . 1.0E-222 0.000 0.063 . 0.016 . . 0.029 . 0.019 0.453 . . rs61816398 rs61816398 . . 1 1538 10 1/0 0,255,255 +rs61816398 1 145312692 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145312692 145312692 Chr1(GRCh37):g.145312692C>A 1853+1538 1853+1538 NM_001351372.1:c.1853+1538C>A p.? p.? 13 13 1538 5' 95.6376 X.36 0.996803 5.38359 95.6376 X.36 0.996803 5.38359 0 rs61816398 yes no Frequency 1 0.000000 0 0.000184 0.000000 0.000217 0.000000 0.000000 0.000000 0.000274 0.001650 0.000000 0.001650 9 0 2 0 0 0 5 2 0 49006 4712 9216 1208 7312 5698 18248 1212 1400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 2 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 79 Exomes transversion C A C>A 0.004 0.448 222 PASS . . . . . . . . . . . ENSG00000163386:ENST00000369338:exon11:c.C1222A:p.Q408K . . . . 0.22580644 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.059 . . 31.0 . . . . . . . . . . -0.6910 -0.924 -0.691 c . . . . . 3.281e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . NBPF10 . . . 0.014 0.126 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.014 . . 0.476 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.100 . HET 0.07 rs61816398 . . . . . . . . . . . . . . . . . . 0.100000 . . . . . . 0.027 . . . 0 0.0002 0.0002 0 0 0.0017 0.0003 0 0 . . . . . . . . . . 0.133 . 0.453 0.453000 . . 0.100000 . . 1.0E-222 0.000 0.063 . 0.016 . . 0.029 . 0.019 0.453 . . rs61816398 rs61816398 . . 1 1538 10 1/0 0,255,255 +rs61816398 1 145312692 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145312692 145312692 Chr1(GRCh37):g.145312692C>A 1853+1538 1853+1538 NM_001277444.1:c.1853+1538C>A p.? p.? 14 14 613999 1538 5' 95.6376 X.36 0.996803 4.84476 95.6376 X.36 0.996803 4.84476 0 rs61816398 yes no Frequency 1 0.000000 0 0.000184 0.000000 0.000217 0.000000 0.000000 0.000000 0.000274 0.001650 0.000000 0.001650 9 0 2 0 0 0 5 2 0 49006 4712 9216 1208 7312 5698 18248 1212 1400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 2 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 79 Exomes transversion C A C>A 0.004 0.448 222 PASS . . . . . . . . . . . ENSG00000163386:ENST00000369338:exon11:c.C1222A:p.Q408K . . . . 0.22580644 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.059 . . 31.0 . . . . . . . . . . -0.6910 -0.924 -0.691 c . . . . . 3.281e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . NBPF10 . . . 0.014 0.126 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.014 . . 0.476 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.100 . HET 0.07 rs61816398 . . . . . . . . . . . . . . . . . . 0.100000 . . . . . . 0.027 . . . 0 0.0002 0.0002 0 0 0.0017 0.0003 0 0 . . . . . . . . . . 0.133 . 0.453 0.453000 . . 0.100000 . . 1.0E-222 0.000 0.063 . 0.016 . . 0.029 . 0.019 0.453 . . rs61816398 rs61816398 . . 1 1538 10 1/0 0,255,255 +. 1 145314163 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145314163 145314163 Chr1(GRCh37):g.145314163T>C 2027-53 2027-53 NM_001039703.4:c.2027-53T>C p.? p.? 15 14 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.004 0.448 255 PASS . . . . . . . . . . . . . . . . 0.43703705 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . -0.1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.41 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61807291 rs61807291 rs61807291 rs61807291 1 1538 10 1/0 0,243,255 +. 1 145314163 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145314163 145314163 Chr1(GRCh37):g.145314163T>C 1854-2349 1854-2349 NM_001351372.1:c.1854-2349T>C p.? p.? 14 13 -2349 3' 88.6311 10.0629 0.913475 XI.91 88.6311 10.0629 0.913475 XI.91 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.004 0.448 255 PASS . . . . . . . . . . . . . . . . 0.43703705 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . -0.1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.41 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61807291 rs61807291 rs61807291 rs61807291 1 1538 10 1/0 0,243,255 +. 1 145314163 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145314163 145314163 Chr1(GRCh37):g.145314163T>C 1854-2349 1854-2349 NM_001277444.1:c.1854-2349T>C p.? p.? 15 14 613999 -2349 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.004 0.448 255 PASS . . . . . . . . . . . . . . . . 0.43703705 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . -0.1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.41 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61807291 rs61807291 rs61807291 rs61807291 1 1538 10 1/0 0,243,255 +. 1 145314232 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145314232 145314232 Chr1(GRCh37):g.145314232A>G 2043 2043 NM_001039703.4:c.2043A>G p.Gln681= p.Gln681Gln 15 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.008 -0.521 Q Gln CAA 0.256 Q Gln CAG 0.744 681 232 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon15:c.A2043G:p.Q681Q . . . . 0.25 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.4226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.29 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,243,255 +. 1 145314232 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145314232 145314232 Chr1(GRCh37):g.145314232A>G 1854-2280 1854-2280 NM_001351372.1:c.1854-2280A>G p.? p.? 14 13 -2280 3' 88.6311 10.0629 0.913475 XI.91 88.6311 10.0629 0.913475 XI.91 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.008 -0.521 232 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon15:c.A2043G:p.Q681Q . . . . 0.25 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.4226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.29 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,243,255 +. 1 145314232 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145314232 145314232 Chr1(GRCh37):g.145314232A>G 1854-2280 1854-2280 NM_001277444.1:c.1854-2280A>G p.? p.? 15 14 613999 -2280 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.008 -0.521 232 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon15:c.A2043G:p.Q681Q . . . . 0.25 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.4226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.29 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,243,255 +. 1 145314292 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145314292 145314292 Chr1(GRCh37):g.145314292A>T 2078+25 2078+25 NM_001039703.4:c.2078+25A>T p.? p.? 15 15 614000 25 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.967377 3.57506 0 transversion A T A>T 0.000 0.448 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145314292 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145314292 145314292 Chr1(GRCh37):g.145314292A>T 1854-2220 1854-2220 NM_001351372.1:c.1854-2220A>T p.? p.? 14 13 -2220 3' 88.6311 10.0629 0.913475 XI.91 88.6311 10.0629 0.913475 XI.91 0 transversion A T A>T 0.000 0.448 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145314292 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145314292 145314292 Chr1(GRCh37):g.145314292A>T 1854-2220 1854-2220 NM_001277444.1:c.1854-2220A>T p.? p.? 15 14 613999 -2220 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 transversion A T A>T 0.000 0.448 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145318833 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145318833 145318833 Chr1(GRCh37):g.145318833A>T 2759-103 2759-103 NM_001039703.4:c.2759-103A>T p.? p.? 21 20 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145318841 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.003433 0.011494 0.000000 0.000000 0.015625 0.000000 0.001600 0.000661 0.000000 0.015625 25 16 0 0 2 0 6 1 0 7282 1392 172 56 128 0 3750 1514 270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 16 0 0 2 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A T A>T 0.134 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3473054 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . -0.3127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0115 0.0034 0 0 0.0156 0.0007 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 1 145318833 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145318833 145318833 Chr1(GRCh37):g.145318833A>T 2078+1376 2078+1376 NM_001351372.1:c.2078+1376A>T p.? p.? 15 15 1376 5' 87.304 VIII.64 0.994515 III.52 87.304 VIII.64 0.994515 III.52 0 Cryptic Acceptor Strongly Activated 145318841 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.003433 0.011494 0.000000 0.000000 0.015625 0.000000 0.001600 0.000661 0.000000 0.015625 25 16 0 0 2 0 6 1 0 7282 1392 172 56 128 0 3750 1514 270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 16 0 0 2 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A T A>T 0.134 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3473054 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . -0.3127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0115 0.0034 0 0 0.0156 0.0007 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 1 145318833 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145318833 145318833 Chr1(GRCh37):g.145318833A>T 2252-103 2252-103 NM_001277444.1:c.2252-103A>T p.? p.? 18 17 613999 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145318841 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.003433 0.011494 0.000000 0.000000 0.015625 0.000000 0.001600 0.000661 0.000000 0.015625 25 16 0 0 2 0 6 1 0 7282 1392 172 56 128 0 3750 1514 270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 16 0 0 2 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A T A>T 0.134 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3473054 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . -0.3127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0115 0.0034 0 0 0.0156 0.0007 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 1 145318883 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145318883 145318883 Chr1(GRCh37):g.145318883T>C 2759-53 2759-53 NM_001039703.4:c.2759-53T>C p.? p.? 21 20 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.006637 0.030172 0.000000 0.000000 0.000000 0.000000 0.002151 0.000000 0.000000 0.030172 9 7 0 0 0 0 2 0 0 1356 232 4 14 12 0 930 114 50 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 7 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.039 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.34640524 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.7696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.39 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0302 0.0066 0 0 0 0 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs61807291 rs61807291 1 1538 10 1/0 0,231,255 +. 1 145318883 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145318883 145318883 Chr1(GRCh37):g.145318883T>C 2078+1426 2078+1426 NM_001351372.1:c.2078+1426T>C p.? p.? 15 15 1426 5' 87.304 VIII.64 0.994515 III.52 87.304 VIII.64 0.994515 III.52 0 0.006637 0.030172 0.000000 0.000000 0.000000 0.000000 0.002151 0.000000 0.000000 0.030172 9 7 0 0 0 0 2 0 0 1356 232 4 14 12 0 930 114 50 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 7 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.039 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.34640524 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.7696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.39 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0302 0.0066 0 0 0 0 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs61807291 rs61807291 1 1538 10 1/0 0,231,255 +. 1 145318883 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145318883 145318883 Chr1(GRCh37):g.145318883T>C 2252-53 2252-53 NM_001277444.1:c.2252-53T>C p.? p.? 18 17 613999 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.006637 0.030172 0.000000 0.000000 0.000000 0.000000 0.002151 0.000000 0.000000 0.030172 9 7 0 0 0 0 2 0 0 1356 232 4 14 12 0 930 114 50 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 7 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.039 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.34640524 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.7696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.39 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0302 0.0066 0 0 0 0 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs61807291 rs61807291 1 1538 10 1/0 0,231,255 +. 1 145323098 A C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145323098 145323098 Chr1(GRCh37):g.145323098A>C 3490+154 3490+154 NM_001039703.4:c.3490+154A>C p.? p.? 26 26 614000 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 145323107 6.9e-05 0.120325 0.000384 68.3734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8234 1200 164 90 494 0 4474 1504 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transversion A C A>C 0.000 0.367 219 PASS . . . . . . . . . . . . . . . . 0.21153846 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.3184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.38 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323098 A C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145323098 145323098 Chr1(GRCh37):g.145323098A>C 2303+923 2303+923 NM_001351372.1:c.2303+923A>C p.? p.? 17 17 923 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 Cryptic Acceptor Strongly Activated 145323107 6.9e-05 0.120325 0.000384 68.3734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8234 1200 164 90 494 0 4474 1504 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transversion A C A>C 0.000 0.367 219 PASS . . . . . . . . . . . . . . . . 0.21153846 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.3184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.38 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323098 A C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145323098 145323098 Chr1(GRCh37):g.145323098A>C 2758+154 2758+154 NM_001277444.1:c.2758+154A>C p.? p.? 21 21 613999 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 145323107 6.9e-05 0.120325 0.000384 68.3734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8234 1200 164 90 494 0 4474 1504 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transversion A C A>C 0.000 0.367 219 PASS . . . . . . . . . . . . . . . . 0.21153846 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.3184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.38 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323100 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145323100 145323100 Chr1(GRCh37):g.145323100T>C 3490+156 3490+156 NM_001039703.4:c.3490+156T>C p.? p.? 26 26 614000 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 0.000123 0.000899 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000899 1 1 0 0 0 0 0 0 0 8108 1112 168 80 480 0 4424 1538 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition T C T>C 0.000 -0.763 238 PASS . . . . . . . . . . . . . . . . 0.26923078 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.42 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323100 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145323100 145323100 Chr1(GRCh37):g.145323100T>C 2303+925 2303+925 NM_001351372.1:c.2303+925T>C p.? p.? 17 17 925 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 0.000123 0.000899 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000899 1 1 0 0 0 0 0 0 0 8108 1112 168 80 480 0 4424 1538 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition T C T>C 0.000 -0.763 238 PASS . . . . . . . . . . . . . . . . 0.26923078 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.42 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323100 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145323100 145323100 Chr1(GRCh37):g.145323100T>C 2758+156 2758+156 NM_001277444.1:c.2758+156T>C p.? p.? 21 21 613999 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 0.000123 0.000899 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000899 1 1 0 0 0 0 0 0 0 8108 1112 168 80 480 0 4424 1538 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition T C T>C 0.000 -0.763 238 PASS . . . . . . . . . . . . . . . . 0.26923078 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.42 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145330834 G A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145330834 145330834 Chr1(GRCh37):g.145330834G>A 4714 4714 NM_001039703.4:c.4714G>A p.Gly1572Ser p.Gly1572Ser 36 614000 -22 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 6.76861 0 DUF1220 0.000110 0.000084 0.000186 0.000000 0.000467 0.000167 0.000000 0.000000 0.000000 0.000467 8 1 2 0 4 1 0 0 0 72462 11960 10754 1404 8564 5984 28282 3338 2176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 2 0 4 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 G Gly GGC 0.342 S Ser AGC 0.243 1572 0 0 -1 0.74 I.42 9 9.II 3 32 56 186 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon36:c.G4714A:p.G1572S . NBPF20:NM_001278267:exon64:c.G6748A:p.G2250S . . 0.12631579 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 95.0 . . . . . . . . . . -1.1070 -1.304 -1.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . NBPF20 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.740000 . . . . . . . . . . 0 0.0001 9.806e-05 0 0.0004 0 0 0 0.0002 0.0001 0.0001 0.0018 0 0.0009 0 0 0 . . 0.558 . -0.526 -0.526000 . . 0.740000 . . 1.0E-186 0.994 0.380 . 0.259 0.157 . 0.242 . 0.188 -0.526 0.060 . . . . . 1 1538 10 1/0 0,231,255 +. 1 145330834 G A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145330834 145330834 Chr1(GRCh37):g.145330834G>A 2455 2455 NM_001351372.1:c.2455G>A p.Gly819Ser p.Gly819Ser 18 -22 5' 86.8199 10.1256 0.988158 6.96807 86.8199 10.1256 0.988158 6.69334 0 0.000110 0.000084 0.000186 0.000000 0.000467 0.000167 0.000000 0.000000 0.000000 0.000467 8 1 2 0 4 1 0 0 0 72462 11960 10754 1404 8564 5984 28282 3338 2176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 2 0 4 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 G Gly GGC 0.342 S Ser AGC 0.243 819 11 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 186 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon36:c.G4714A:p.G1572S . NBPF20:NM_001278267:exon64:c.G6748A:p.G2250S . . 0.12631579 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 95.0 . . . . . . . . . . -1.1070 -1.304 -1.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . NBPF20 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.740000 . . . . . . . . . . 0 0.0001 9.806e-05 0 0.0004 0 0 0 0.0002 0.0001 0.0001 0.0018 0 0.0009 0 0 0 . . 0.558 . -0.526 -0.526000 . . 0.740000 . . 1.0E-186 0.994 0.380 . 0.259 0.157 . 0.242 . 0.188 -0.526 0.060 . . . . . 1 1538 10 1/0 0,231,255 +. 1 145330834 G A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145330834 145330834 Chr1(GRCh37):g.145330834G>A 2759-2271 2759-2271 NM_001277444.1:c.2759-2271G>A p.? p.? 22 21 613999 -2271 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 0.000110 0.000084 0.000186 0.000000 0.000467 0.000167 0.000000 0.000000 0.000000 0.000467 8 1 2 0 4 1 0 0 0 72462 11960 10754 1404 8564 5984 28282 3338 2176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 2 0 4 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 186 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon36:c.G4714A:p.G1572S . NBPF20:NM_001278267:exon64:c.G6748A:p.G2250S . . 0.12631579 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 95.0 . . . . . . . . . . -1.1070 -1.304 -1.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . NBPF20 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.740000 . . . . . . . . . . 0 0.0001 9.806e-05 0 0.0004 0 0 0 0.0002 0.0001 0.0001 0.0018 0 0.0009 0 0 0 . . 0.558 . -0.526 -0.526000 . . 0.740000 . . 1.0E-186 0.994 0.380 . 0.259 0.157 . 0.242 . 0.188 -0.526 0.060 . . . . . 1 1538 10 1/0 0,231,255 +rs61813367 1 145331589 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145331589 145331589 Chr1(GRCh37):g.145331589C>A 4750 4750 NM_001039703.4:c.4750C>A p.Gln1584Lys p.Gln1584Lys 37 614000 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 rs61813367 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.004 0.448 Q Gln CAA 0.256 K Lys AAA 0.425 1584 1 1 2 0.89 0.33 10.V 11.III 85 119 53 220 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon37:c.C4750A:p.Q1584K . . . . 0.21666667 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.8193 -1.026 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . 0.41 0.31 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813367 . . . . . . . . . . . . . . ENST00000342960 0.429 0.429 . 0.550000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.465 0.465000 . . 0.550000 . . 1.0E-220 0.002 0.151 . 0.128 . . 0.084 . 0.254 0.465 . . . . rs200773004 rs200773004 1 1538 10 1/0 0,255,255 +rs61813367 1 145331589 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145331589 145331589 Chr1(GRCh37):g.145331589C>A 2491 2491 NM_001351372.1:c.2491C>A p.Gln831Lys p.Gln831Lys 19 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 rs61813367 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.004 0.448 Q Gln CAA 0.256 K Lys AAA 0.425 831 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 220 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon37:c.C4750A:p.Q1584K . . . . 0.21666667 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.8193 -1.026 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . 0.41 0.31 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813367 . . . . . . . . . . . . . . ENST00000342960 0.429 0.429 . 0.550000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.465 0.465000 . . 0.550000 . . 1.0E-220 0.002 0.151 . 0.128 . . 0.084 . 0.254 0.465 . . . . rs200773004 rs200773004 1 1538 10 1/0 0,255,255 +rs61813367 1 145331589 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145331589 145331589 Chr1(GRCh37):g.145331589C>A 2759-1516 2759-1516 NM_001277444.1:c.2759-1516C>A p.? p.? 22 21 613999 -1516 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 rs61813367 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.004 0.448 220 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon37:c.C4750A:p.Q1584K . . . . 0.21666667 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.8193 -1.026 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . 0.41 0.31 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813367 . . . . . . . . . . . . . . ENST00000342960 0.429 0.429 . 0.550000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.465 0.465000 . . 0.550000 . . 1.0E-220 0.002 0.151 . 0.128 . . 0.084 . 0.254 0.465 . . . . rs200773004 rs200773004 1 1538 10 1/0 0,255,255 +. 1 145331750 T G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145331750 145331750 Chr1(GRCh37):g.145331750T>G 4787+124 4787+124 NM_001039703.4:c.4787+124T>G p.? p.? 37 37 614000 124 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion T G T>G 0.000 -1.247 195 PASS . . . . . . . . . . . . . . . . 0.14864865 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.5752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 145331750 T G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145331750 145331750 Chr1(GRCh37):g.145331750T>G 2528+124 2528+124 NM_001351372.1:c.2528+124T>G p.? p.? 19 19 124 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion T G T>G 0.000 -1.247 195 PASS . . . . . . . . . . . . . . . . 0.14864865 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.5752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 145331750 T G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145331750 145331750 Chr1(GRCh37):g.145331750T>G 2759-1355 2759-1355 NM_001277444.1:c.2759-1355T>G p.? p.? 22 21 613999 -1355 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 transversion T G T>G 0.000 -1.247 195 PASS . . . . . . . . . . . . . . . . 0.14864865 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.5752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 145332676 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145332676 145332676 Chr1(GRCh37):g.145332676G>C 4960+281 4960+281 NM_001039703.4:c.4960+281G>C p.? p.? 38 38 614000 281 5' 74.2807 8.34018 0.667515 4.64128 74.2807 8.34018 0.667515 4.64128 0 Cryptic Acceptor Strongly Activated 145332694 7.4e-05 71.6045 0.801323 0.0001 71.6045 transversion G C G>C 0.094 -1.893 211 PASS . . . . . . . . . . . . . . . . 0.18867925 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.8143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs4994039 rs4994039 rs4994039 . 1 1538 10 1/0 0,232,255 +. 1 145332676 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145332676 145332676 Chr1(GRCh37):g.145332676G>C 2701+281 2701+281 NM_001351372.1:c.2701+281G>C p.? p.? 20 20 281 5' 74.2807 8.34018 0.667515 4.64128 74.2807 8.34018 0.667515 4.64128 0 Cryptic Acceptor Strongly Activated 145332694 7.4e-05 71.6045 0.801323 0.0001 71.6045 transversion G C G>C 0.094 -1.893 211 PASS . . . . . . . . . . . . . . . . 0.18867925 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.8143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs4994039 rs4994039 rs4994039 . 1 1538 10 1/0 0,232,255 +. 1 145332676 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145332676 145332676 Chr1(GRCh37):g.145332676G>C 2759-429 2759-429 NM_001277444.1:c.2759-429G>C p.? p.? 22 21 613999 -429 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145332694 7.4e-05 71.6045 0.801323 0.0001 71.6045 transversion G C G>C 0.094 -1.893 211 PASS . . . . . . . . . . . . . . . . 0.18867925 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.8143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs4994039 rs4994039 rs4994039 . 1 1538 10 1/0 0,232,255 +. 1 145332712 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145332712 145332712 Chr1(GRCh37):g.145332712T>C 4960+317 4960+317 NM_001039703.4:c.4960+317T>C p.? p.? 38 38 614000 317 5' 74.2807 8.34018 0.667515 4.64128 74.2807 8.34018 0.667515 4.64128 0 transition T C T>C 0.051 -1.812 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.7654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4994040 rs4994040 rs4994040 . 1 1538 10 1/0 0,244,255 +. 1 145332712 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145332712 145332712 Chr1(GRCh37):g.145332712T>C 2701+317 2701+317 NM_001351372.1:c.2701+317T>C p.? p.? 20 20 317 5' 74.2807 8.34018 0.667515 4.64128 74.2807 8.34018 0.667515 4.64128 0 transition T C T>C 0.051 -1.812 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.7654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4994040 rs4994040 rs4994040 . 1 1538 10 1/0 0,244,255 +. 1 145332712 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145332712 145332712 Chr1(GRCh37):g.145332712T>C 2759-393 2759-393 NM_001277444.1:c.2759-393T>C p.? p.? 22 21 613999 -393 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 transition T C T>C 0.051 -1.812 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.7654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4994040 rs4994040 rs4994040 . 1 1538 10 1/0 0,244,255 +rs370096036 1 145333002 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145333002 145333002 Chr1(GRCh37):g.145333002A>T 4961-103 4961-103 NM_001039703.4:c.4961-103A>T p.? p.? 39 38 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145333010 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 rs370096036 no no 0 0.000000 0 transversion A T A>T 0.138 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.2478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370096036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370096036 . 1 1538 10 1/0 0,255,255 +rs370096036 1 145333002 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145333002 145333002 Chr1(GRCh37):g.145333002A>T 2702-103 2702-103 NM_001351372.1:c.2702-103A>T p.? p.? 21 20 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145333010 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 rs370096036 no no 0 0.000000 0 transversion A T A>T 0.138 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.2478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370096036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370096036 . 1 1538 10 1/0 0,255,255 +rs370096036 1 145333002 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145333002 145333002 Chr1(GRCh37):g.145333002A>T 2759-103 2759-103 NM_001277444.1:c.2759-103A>T p.? p.? 22 21 613999 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145333010 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 rs370096036 no no 0 0.000000 0 transversion A T A>T 0.138 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.2478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370096036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370096036 . 1 1538 10 1/0 0,255,255 +rs61813368 1 145333052 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145333052 145333052 Chr1(GRCh37):g.145333052T>C 4961-53 4961-53 NM_001039703.4:c.4961-53T>C p.? p.? 39 38 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 rs61813368 no no 0 0.000000 0 transition T C T>C 0.173 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61813368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +rs61813368 1 145333052 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145333052 145333052 Chr1(GRCh37):g.145333052T>C 2702-53 2702-53 NM_001351372.1:c.2702-53T>C p.? p.? 21 20 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 rs61813368 no no 0 0.000000 0 transition T C T>C 0.173 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61813368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +rs61813368 1 145333052 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145333052 145333052 Chr1(GRCh37):g.145333052T>C 2759-53 2759-53 NM_001277444.1:c.2759-53T>C p.? p.? 22 21 613999 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 rs61813368 no no 0 0.000000 0 transition T C T>C 0.173 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61813368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +rs61813369 1 145333121 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145333121 145333121 Chr1(GRCh37):g.145333121A>G 4977 4977 NM_001039703.4:c.4977A>G p.Gln1659= p.Gln1659Gln 39 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 rs61813369 no no 0 0.000000 0 0.004636 0.024000 0.004915 0.014286 0.000000 0.001905 0.000926 0.000000 0.006135 0.024000 39 18 11 2 0 4 2 0 2 8412 750 2238 140 642 2100 2160 56 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 18 11 2 0 4 2 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.343 0.125 Q Gln CAA 0.256 Q Gln CAG 0.744 1659 250 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon39:c.A4977G:p.Q1659Q . . . . 0.30769232 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.2276 -0.197 -0.228 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0242 0.0046 0.0049 0.0143 0 0 0.0009 0.0061 0.0019 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-250 0.000 0.063 . 0.138 . . 0.028 . 0.015 . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,255,255 +rs61813369 1 145333121 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution synonymous exon GRCh37 145333121 145333121 Chr1(GRCh37):g.145333121A>G 2718 2718 NM_001351372.1:c.2718A>G p.Gln906= p.Gln906Gln 21 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 rs61813369 no no 0 0.000000 0 0.004636 0.024000 0.004915 0.014286 0.000000 0.001905 0.000926 0.000000 0.006135 0.024000 39 18 11 2 0 4 2 0 2 8412 750 2238 140 642 2100 2160 56 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 18 11 2 0 4 2 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.343 0.125 Q Gln CAA 0.256 Q Gln CAG 0.744 906 250 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon39:c.A4977G:p.Q1659Q . . . . 0.30769232 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.2276 -0.197 -0.228 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0242 0.0046 0.0049 0.0143 0 0 0.0009 0.0061 0.0019 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-250 0.000 0.063 . 0.138 . . 0.028 . 0.015 . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,255,255 +rs61813369 1 145333121 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution synonymous exon GRCh37 145333121 145333121 Chr1(GRCh37):g.145333121A>G 2775 2775 NM_001277444.1:c.2775A>G p.Gln925= p.Gln925Gln 22 613999 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 rs61813369 no no 0 0.000000 0 0.004636 0.024000 0.004915 0.014286 0.000000 0.001905 0.000926 0.000000 0.006135 0.024000 39 18 11 2 0 4 2 0 2 8412 750 2238 140 642 2100 2160 56 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 18 11 2 0 4 2 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.343 0.125 Q Gln CAA 0.256 Q Gln CAG 0.744 925 250 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon39:c.A4977G:p.Q1659Q . . . . 0.30769232 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.2276 -0.197 -0.228 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0242 0.0046 0.0049 0.0143 0 0 0.0009 0.0061 0.0019 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-250 0.000 0.063 . 0.138 . . 0.028 . 0.015 . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,255,255 +. 1 145333181 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145333181 145333181 Chr1(GRCh37):g.145333181A>T 5012+25 5012+25 NM_001039703.4:c.5012+25A>T p.? p.? 39 39 614000 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.006188 0.003597 0.009363 0.000000 0.000000 0.005338 0.007188 0.000000 0.004237 0.009363 36 2 15 0 0 9 9 0 1 5818 556 1602 94 364 1686 1252 28 236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 2 15 0 0 9 9 0 1 0 0 0 0 0 0 0 0 0 RF 99 Exomes transversion A T A>T 0.205 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0062 0.0094 0 0 0 0.0072 0.0042 0.0053 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 145333181 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145333181 145333181 Chr1(GRCh37):g.145333181A>T 2753+25 2753+25 NM_001351372.1:c.2753+25A>T p.? p.? 21 21 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.006188 0.003597 0.009363 0.000000 0.000000 0.005338 0.007188 0.000000 0.004237 0.009363 36 2 15 0 0 9 9 0 1 5818 556 1602 94 364 1686 1252 28 236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 2 15 0 0 9 9 0 1 0 0 0 0 0 0 0 0 0 RF 99 Exomes transversion A T A>T 0.205 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0062 0.0094 0 0 0 0.0072 0.0042 0.0053 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 145333181 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145333181 145333181 Chr1(GRCh37):g.145333181A>T 2810+25 2810+25 NM_001277444.1:c.2810+25A>T p.? p.? 22 22 613999 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.006188 0.003597 0.009363 0.000000 0.000000 0.005338 0.007188 0.000000 0.004237 0.009363 36 2 15 0 0 9 9 0 1 5818 556 1602 94 364 1686 1252 28 236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 2 15 0 0 9 9 0 1 0 0 0 0 0 0 0 0 0 RF 99 Exomes transversion A T A>T 0.205 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0062 0.0094 0 0 0 0.0072 0.0042 0.0053 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs61813378 1 145335535 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145335535 145335535 Chr1(GRCh37):g.145335535A>G 5441 5441 NM_001039703.4:c.5441A>G p.His1814Arg p.His1814Arg 42 614000 -27 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 7.06096 0 DUF1220 rs61813378 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -1.409 H His CAT 0.413 R Arg CGT 0.082 1814 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.A5441G:p.H1814R . . . . 0.4864865 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 185.0 . . . . . . . . . . -1.5755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813378 . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.530 -1.530000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.530 . . . . . . 1 1538 10 1/0 0,228,241 +rs61813378 1 145335535 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145335535 145335535 Chr1(GRCh37):g.145335535A>G 2753+2379 2753+2379 NM_001351372.1:c.2753+2379A>G p.? p.? 21 21 2379 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 rs61813378 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.A5441G:p.H1814R . . . . 0.4864865 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 185.0 . . . . . . . . . . -1.5755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813378 . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.530 -1.530000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.530 . . . . . . 1 1538 10 1/0 0,228,241 +rs61813378 1 145335535 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145335535 145335535 Chr1(GRCh37):g.145335535A>G 2810+2379 2810+2379 NM_001277444.1:c.2810+2379A>G p.? p.? 22 22 613999 2379 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 rs61813378 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.A5441G:p.H1814R . . . . 0.4864865 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 185.0 . . . . . . . . . . -1.5755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813378 . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.530 -1.530000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.530 . . . . . . 1 1538 10 1/0 0,228,241 +. 1 145335540 G A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145335540 145335540 Chr1(GRCh37):g.145335540G>A 5446 5446 NM_001039703.4:c.5446G>A p.Gly1816Ser p.Gly1816Ser 42 614000 -22 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 6.76861 0 DUF1220 transition G A G>A 0.000 -0.440 G Gly GGC 0.342 S Ser AGC 0.243 1816 0 0 -1 0.74 I.42 9 9.II 3 32 56 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.G5446A:p.G1816S . . . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 192.0 . . . . . . . . . . -1.0971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.810000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.526 -0.526000 . . 0.810000 . . 1.0E-197 . . . . . . . . . -0.526 . . . . . . 1 1538 10 1/0 0,203,255 +. 1 145335540 G A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145335540 145335540 Chr1(GRCh37):g.145335540G>A 2753+2384 2753+2384 NM_001351372.1:c.2753+2384G>A p.? p.? 21 21 2384 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition G A G>A 0.000 -0.440 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.G5446A:p.G1816S . . . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 192.0 . . . . . . . . . . -1.0971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.810000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.526 -0.526000 . . 0.810000 . . 1.0E-197 . . . . . . . . . -0.526 . . . . . . 1 1538 10 1/0 0,203,255 +. 1 145335540 G A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145335540 145335540 Chr1(GRCh37):g.145335540G>A 2810+2384 2810+2384 NM_001277444.1:c.2810+2384G>A p.? p.? 22 22 613999 2384 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition G A G>A 0.000 -0.440 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.G5446A:p.G1816S . . . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 192.0 . . . . . . . . . . -1.0971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.810000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.526 -0.526000 . . 0.810000 . . 1.0E-197 . . . . . . . . . -0.526 . . . . . . 1 1538 10 1/0 0,203,255 +. 1 145337708 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145337708 145337708 Chr1(GRCh37):g.145337708A>T 5693-103 5693-103 NM_001039703.4:c.5693-103A>T p.? p.? 45 44 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145337716 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.122 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.3150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337708 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145337708 145337708 Chr1(GRCh37):g.145337708A>T 2753+4552 2753+4552 NM_001351372.1:c.2753+4552A>T p.? p.? 21 21 4552 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 Cryptic Acceptor Strongly Activated 145337716 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.122 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.3150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337708 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145337708 145337708 Chr1(GRCh37):g.145337708A>T 2810+4552 2810+4552 NM_001277444.1:c.2810+4552A>T p.? p.? 22 22 613999 4552 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 Cryptic Acceptor Strongly Activated 145337716 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.122 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.3150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337758 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145337758 145337758 Chr1(GRCh37):g.145337758T>C 5693-53 5693-53 NM_001039703.4:c.5693-53T>C p.? p.? 45 44 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 transition T C T>C 0.169 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.0888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337758 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145337758 145337758 Chr1(GRCh37):g.145337758T>C 2753+4602 2753+4602 NM_001351372.1:c.2753+4602T>C p.? p.? 21 21 4602 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition T C T>C 0.169 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.0888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337758 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145337758 145337758 Chr1(GRCh37):g.145337758T>C 2810+4602 2810+4602 NM_001277444.1:c.2810+4602T>C p.? p.? 22 22 613999 4602 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition T C T>C 0.169 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.0888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337827 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145337827 145337827 Chr1(GRCh37):g.145337827A>G 5709 5709 NM_001039703.4:c.5709A>G p.Gln1903= p.Gln1903Gln 45 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000773 0.000000 0.002146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002146 1 0 1 0 0 0 0 0 0 1294 96 466 14 72 404 182 6 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 224 Exomes transition A G A>G 0.291 0.125 Q Gln CAA 0.256 Q Gln CAG 0.744 1903 235 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon45:c.A5709G:p.Q1903Q . . . . 0.26027396 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.0342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0.0021 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145337827 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145337827 145337827 Chr1(GRCh37):g.145337827A>G 2753+4671 2753+4671 NM_001351372.1:c.2753+4671A>G p.? p.? 21 21 4671 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000773 0.000000 0.002146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002146 1 0 1 0 0 0 0 0 0 1294 96 466 14 72 404 182 6 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 224 Exomes transition A G A>G 0.291 0.125 235 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon45:c.A5709G:p.Q1903Q . . . . 0.26027396 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.0342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0.0021 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145337827 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145337827 145337827 Chr1(GRCh37):g.145337827A>G 2810+4671 2810+4671 NM_001277444.1:c.2810+4671A>G p.? p.? 22 22 613999 4671 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000773 0.000000 0.002146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002146 1 0 1 0 0 0 0 0 0 1294 96 466 14 72 404 182 6 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 224 Exomes transition A G A>G 0.291 0.125 235 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon45:c.A5709G:p.Q1903Q . . . . 0.26027396 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.0342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0.0021 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145337887 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145337887 145337887 Chr1(GRCh37):g.145337887A>T 5744+25 5744+25 NM_001039703.4:c.5744+25A>T p.? p.? 45 45 614000 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 944 50 366 10 52 316 104 6 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 299 Exomes transversion A T A>T 0.004 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16949153 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337887 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145337887 145337887 Chr1(GRCh37):g.145337887A>T 2753+4731 2753+4731 NM_001351372.1:c.2753+4731A>T p.? p.? 21 21 4731 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 944 50 366 10 52 316 104 6 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 299 Exomes transversion A T A>T 0.004 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16949153 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337887 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145337887 145337887 Chr1(GRCh37):g.145337887A>T 2810+4731 2810+4731 NM_001277444.1:c.2810+4731A>T p.? p.? 22 22 613999 4731 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 944 50 366 10 52 316 104 6 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 299 Exomes transversion A T A>T 0.004 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16949153 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145340255 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145340255 145340255 Chr1(GRCh37):g.145340255A>G 6173 6173 NM_001039703.4:c.6173A>G p.His2058Arg p.His2058Arg 48 614000 -27 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 7.06096 0 DUF1220 transition A G A>G 0.000 -1.570 H His CAT 0.413 R Arg CGT 0.082 2058 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon48:c.A6173G:p.H2058R . . . . 0.49720672 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 179.0 . . . . . . . . . . -1.4473 -1.670 -1.447 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.093 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.062 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.557 -1.11 . 0.700000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.777 -1.777000 . . 0.700000 . . 1.0E-255 0.033 0.204 . 0.062 . . 0.268 . 0.273 -1.777 . . . . . . 1 1538 10 1/0 0,229,238 +. 1 145340255 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145340255 145340255 Chr1(GRCh37):g.145340255A>G 2753+7099 2753+7099 NM_001351372.1:c.2753+7099A>G p.? p.? 21 21 7099 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition A G A>G 0.000 -1.570 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon48:c.A6173G:p.H2058R . . . . 0.49720672 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 179.0 . . . . . . . . . . -1.4473 -1.670 -1.447 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.093 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.062 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.557 -1.11 . 0.700000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.777 -1.777000 . . 0.700000 . . 1.0E-255 0.033 0.204 . 0.062 . . 0.268 . 0.273 -1.777 . . . . . . 1 1538 10 1/0 0,229,238 +. 1 145340255 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145340255 145340255 Chr1(GRCh37):g.145340255A>G 2810+7099 2810+7099 NM_001277444.1:c.2810+7099A>G p.? p.? 22 22 613999 7099 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition A G A>G 0.000 -1.570 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon48:c.A6173G:p.H2058R . . . . 0.49720672 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 179.0 . . . . . . . . . . -1.4473 -1.670 -1.447 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.093 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.062 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.557 -1.11 . 0.700000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.777 -1.777000 . . 0.700000 . . 1.0E-255 0.033 0.204 . 0.062 . . 0.268 . 0.273 -1.777 . . . . . . 1 1538 10 1/0 0,229,238 +. 1 145341015 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145341015 145341015 Chr1(GRCh37):g.145341015C>A 6214 6214 NM_001039703.4:c.6214C>A p.Gln2072Lys p.Gln2072Lys 49 614000 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 2072 1 1 2 0.89 0.33 10.V 11.III 85 119 53 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon49:c.C6214A:p.Q2072K . . . . 0.14705883 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.052 . . 34.0 . . . . . . . . . . -0.8290 -1.048 -0.829 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.2 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.029 0.002 . . 37 . 0.013 . . 0.473 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.118 . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.420000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.149 0.149000 . . 0.420000 . . 1.0E-194 0.100 0.226 . . . . 0.241 . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145341015 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145341015 145341015 Chr1(GRCh37):g.145341015C>A 2753+7859 2753+7859 NM_001351372.1:c.2753+7859C>A p.? p.? 21 21 7859 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transversion C A C>A 0.114 0.125 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon49:c.C6214A:p.Q2072K . . . . 0.14705883 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.052 . . 34.0 . . . . . . . . . . -0.8290 -1.048 -0.829 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.2 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.029 0.002 . . 37 . 0.013 . . 0.473 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.118 . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.420000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.149 0.149000 . . 0.420000 . . 1.0E-194 0.100 0.226 . . . . 0.241 . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145341015 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145341015 145341015 Chr1(GRCh37):g.145341015C>A 2810+7859 2810+7859 NM_001277444.1:c.2810+7859C>A p.? p.? 22 22 613999 7859 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transversion C A C>A 0.114 0.125 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon49:c.C6214A:p.Q2072K . . . . 0.14705883 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.052 . . 34.0 . . . . . . . . . . -0.8290 -1.048 -0.829 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.2 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.029 0.002 . . 37 . 0.013 . . 0.473 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.118 . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.420000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.149 0.149000 . . 0.420000 . . 1.0E-194 0.100 0.226 . . . . 0.241 . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145342428 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145342428 145342428 Chr1(GRCh37):g.145342428A>T 6425-103 6425-103 NM_001039703.4:c.6425-103A>T p.? p.? 51 50 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145342436 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.130 0.125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.2141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145342428 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145342428 145342428 Chr1(GRCh37):g.145342428A>T 2753+9272 2753+9272 NM_001351372.1:c.2753+9272A>T p.? p.? 21 21 9272 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 Cryptic Acceptor Strongly Activated 145342436 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.130 0.125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.2141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145342428 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145342428 145342428 Chr1(GRCh37):g.145342428A>T 2810+9272 2810+9272 NM_001277444.1:c.2810+9272A>T p.? p.? 22 22 613999 9272 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 Cryptic Acceptor Strongly Activated 145342436 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.130 0.125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.2141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145342478 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145342478 145342478 Chr1(GRCh37):g.145342478T>C 6425-53 6425-53 NM_001039703.4:c.6425-53T>C p.? p.? 51 50 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.087 -1.651 213 PASS . . . . . . . . . . . . . . . . 0.19402985 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.5013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 145342478 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145342478 145342478 Chr1(GRCh37):g.145342478T>C 2753+9322 2753+9322 NM_001351372.1:c.2753+9322T>C p.? p.? 21 21 9322 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.087 -1.651 213 PASS . . . . . . . . . . . . . . . . 0.19402985 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.5013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 145342478 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145342478 145342478 Chr1(GRCh37):g.145342478T>C 2810+9322 2810+9322 NM_001277444.1:c.2810+9322T>C p.? p.? 22 22 613999 9322 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.087 -1.651 213 PASS . . . . . . . . . . . . . . . . 0.19402985 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.5013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 145342547 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145342547 145342547 Chr1(GRCh37):g.145342547A>G 6441 6441 NM_001039703.4:c.6441A>G p.Gln2147= p.Gln2147Gln 51 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.031 -0.763 Q Gln CAA 0.256 Q Gln CAG 0.744 2147 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon51:c.A6441G:p.Q2147Q . . . . 0.15189873 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4356 -0.224 -0.436 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.111 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-197 0.552 0.271 . . . . 0.057 . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145342547 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145342547 145342547 Chr1(GRCh37):g.145342547A>G 2753+9391 2753+9391 NM_001351372.1:c.2753+9391A>G p.? p.? 21 21 9391 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.031 -0.763 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon51:c.A6441G:p.Q2147Q . . . . 0.15189873 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4356 -0.224 -0.436 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.111 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-197 0.552 0.271 . . . . 0.057 . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145342547 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145342547 145342547 Chr1(GRCh37):g.145342547A>G 2810+9391 2810+9391 NM_001277444.1:c.2810+9391A>G p.? p.? 22 22 613999 9391 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.031 -0.763 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon51:c.A6441G:p.Q2147Q . . . . 0.15189873 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4356 -0.224 -0.436 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.111 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-197 0.552 0.271 . . . . 0.057 . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145344014 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145344014 145344014 Chr1(GRCh37):g.145344014G>C 6650-114 6650-114 NM_001039703.4:c.6650-114G>C p.? p.? 53 52 614000 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344014 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145344014 145344014 Chr1(GRCh37):g.145344014G>C 2754-8671 2754-8671 NM_001351372.1:c.2754-8671G>C p.? p.? 22 21 -8671 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transversion G C G>C 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344014 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145344014 145344014 Chr1(GRCh37):g.145344014G>C 2811-8671 2811-8671 NM_001277444.1:c.2811-8671G>C p.? p.? 23 22 613999 -8671 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transversion G C G>C 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344979 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145344979 145344979 Chr1(GRCh37):g.145344979A>G 6905 6905 NM_001039703.4:c.6905A>G p.His2302Arg p.His2302Arg 54 614000 -27 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 7.06096 0 DUF1220 transition A G A>G 0.000 -3.346 H His CAT 0.413 R Arg CGT 0.082 2302 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon54:c.A6905G:p.H2302R . . . . 0.36263737 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . -2.1583 -2.264 -2.158 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . . . . . 0.111 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.360000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -3.549 -3.549000 . . 0.360000 . . 1.0E-255 0.001 0.137 . 0.083 . . 0.277 . 0.248 -3.549 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344979 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145344979 145344979 Chr1(GRCh37):g.145344979A>G 2754-7706 2754-7706 NM_001351372.1:c.2754-7706A>G p.? p.? 22 21 -7706 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transition A G A>G 0.000 -3.346 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon54:c.A6905G:p.H2302R . . . . 0.36263737 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . -2.1583 -2.264 -2.158 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . . . . . 0.111 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.360000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -3.549 -3.549000 . . 0.360000 . . 1.0E-255 0.001 0.137 . 0.083 . . 0.277 . 0.248 -3.549 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344979 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145344979 145344979 Chr1(GRCh37):g.145344979A>G 2811-7706 2811-7706 NM_001277444.1:c.2811-7706A>G p.? p.? 23 22 613999 -7706 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transition A G A>G 0.000 -3.346 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon54:c.A6905G:p.H2302R . . . . 0.36263737 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . -2.1583 -2.264 -2.158 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . . . . . 0.111 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.360000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -3.549 -3.549000 . . 0.360000 . . 1.0E-255 0.001 0.137 . 0.083 . . 0.277 . 0.248 -3.549 . . . . . . 1 1538 10 1/0 0,255,255 +rs201882371 1 145345739 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145345739 145345739 Chr1(GRCh37):g.145345739C>A 6946 6946 NM_001039703.4:c.6946C>A p.Gln2316Lys p.Gln2316Lys 55 614000 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 rs201882371 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.000 -14.080 Q Gln CAA 0.256 K Lys AAA 0.425 2316 1 1 2 0.89 0.33 10.V 11.III 85 119 53 237 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon55:c.C6946A:p.Q2316K . . . . 0.27027026 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.057 . . 37.0 . . . . . . . . . . -0.4759 -0.627 -0.476 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.29 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.608 0.043 . . 37 . 0.015 . . 0.478 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.132 . HET 0.11 rs201882371 . . . . . . . . . . . . . . ENST00000342960 . . . 0.300000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . 0.300000 . . 1.0E-237 0.007 0.175 . 0.043 . . 0.257 . 0.270 . . . . . rs201882371 rs201882371 1 1538 10 1/0 0,255,255 +rs201882371 1 145345739 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145345739 145345739 Chr1(GRCh37):g.145345739C>A 2754-6946 2754-6946 NM_001351372.1:c.2754-6946C>A p.? p.? 22 21 -6946 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 rs201882371 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.000 -14.080 237 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon55:c.C6946A:p.Q2316K . . . . 0.27027026 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.057 . . 37.0 . . . . . . . . . . -0.4759 -0.627 -0.476 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.29 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.608 0.043 . . 37 . 0.015 . . 0.478 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.132 . HET 0.11 rs201882371 . . . . . . . . . . . . . . ENST00000342960 . . . 0.300000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . 0.300000 . . 1.0E-237 0.007 0.175 . 0.043 . . 0.257 . 0.270 . . . . . rs201882371 rs201882371 1 1538 10 1/0 0,255,255 +rs201882371 1 145345739 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145345739 145345739 Chr1(GRCh37):g.145345739C>A 2811-6946 2811-6946 NM_001277444.1:c.2811-6946C>A p.? p.? 23 22 613999 -6946 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 rs201882371 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.000 -14.080 237 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon55:c.C6946A:p.Q2316K . . . . 0.27027026 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.057 . . 37.0 . . . . . . . . . . -0.4759 -0.627 -0.476 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.29 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.608 0.043 . . 37 . 0.015 . . 0.478 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.132 . HET 0.11 rs201882371 . . . . . . . . . . . . . . ENST00000342960 . . . 0.300000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . 0.300000 . . 1.0E-237 0.007 0.175 . 0.043 . . 0.257 . 0.270 . . . . . rs201882371 rs201882371 1 1538 10 1/0 0,255,255 +. 1 145347152 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145347152 145347152 Chr1(GRCh37):g.145347152A>T 7157-103 7157-103 NM_001039703.4:c.7157-103A>T p.? p.? 57 56 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145347160 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.000 -0.602 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.5386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347152 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145347152 145347152 Chr1(GRCh37):g.145347152A>T 2754-5533 2754-5533 NM_001351372.1:c.2754-5533A>T p.? p.? 22 21 -5533 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145347160 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.000 -0.602 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.5386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347152 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145347152 145347152 Chr1(GRCh37):g.145347152A>T 2811-5533 2811-5533 NM_001277444.1:c.2811-5533A>T p.? p.? 23 22 613999 -5533 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145347160 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.000 -0.602 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.5386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347202 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145347202 145347202 Chr1(GRCh37):g.145347202T>C 7157-53 7157-53 NM_001039703.4:c.7157-53T>C p.? p.? 57 56 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.367 246 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.2611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347202 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145347202 145347202 Chr1(GRCh37):g.145347202T>C 2754-5483 2754-5483 NM_001351372.1:c.2754-5483T>C p.? p.? 22 21 -5483 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.367 246 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.2611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347202 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145347202 145347202 Chr1(GRCh37):g.145347202T>C 2811-5483 2811-5483 NM_001277444.1:c.2811-5483T>C p.? p.? 23 22 613999 -5483 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.367 246 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.2611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347271 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145347271 145347271 Chr1(GRCh37):g.145347271A>G 7173 7173 NM_001039703.4:c.7173A>G p.Gln2391= p.Gln2391Gln 57 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.521 Q Gln CAA 0.256 Q Gln CAG 0.744 2391 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3765 -0.221 -0.376 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.090 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-255 0.022 0.197 . . . . 0.025 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347271 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145347271 145347271 Chr1(GRCh37):g.145347271A>G 2754-5414 2754-5414 NM_001351372.1:c.2754-5414A>G p.? p.? 22 21 -5414 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3765 -0.221 -0.376 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.090 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-255 0.022 0.197 . . . . 0.025 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347271 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145347271 145347271 Chr1(GRCh37):g.145347271A>G 2811-5414 2811-5414 NM_001277444.1:c.2811-5414A>G p.? p.? 23 22 613999 -5414 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3765 -0.221 -0.376 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.090 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-255 0.022 0.197 . . . . 0.025 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145351882 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145351882 145351882 Chr1(GRCh37):g.145351882A>T 7889-103 7889-103 NM_001039703.4:c.7889-103A>T p.? p.? 63 62 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145351890 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.004717 0.006003 0.000000 0.000000 0.000000 0.000000 0.004271 0.000000 0.017045 0.006003 24 7 0 0 0 0 14 0 3 5088 1166 108 56 106 0 3278 198 176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 0 0 0 0 14 0 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion A T A>T 0.079 0.205 222 PASS . . . . . . . . . . . . . . . . 0.22033899 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0047 0 0 0 0 0.0043 0.0170 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145351882 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145351882 145351882 Chr1(GRCh37):g.145351882A>T 2754-803 2754-803 NM_001351372.1:c.2754-803A>T p.? p.? 22 21 -803 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145351890 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.004717 0.006003 0.000000 0.000000 0.000000 0.000000 0.004271 0.000000 0.017045 0.006003 24 7 0 0 0 0 14 0 3 5088 1166 108 56 106 0 3278 198 176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 0 0 0 0 14 0 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion A T A>T 0.079 0.205 222 PASS . . . . . . . . . . . . . . . . 0.22033899 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0047 0 0 0 0 0.0043 0.0170 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145351882 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145351882 145351882 Chr1(GRCh37):g.145351882A>T 2811-803 2811-803 NM_001277444.1:c.2811-803A>T p.? p.? 23 22 613999 -803 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145351890 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.004717 0.006003 0.000000 0.000000 0.000000 0.000000 0.004271 0.000000 0.017045 0.006003 24 7 0 0 0 0 14 0 3 5088 1166 108 56 106 0 3278 198 176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 0 0 0 0 14 0 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion A T A>T 0.079 0.205 222 PASS . . . . . . . . . . . . . . . . 0.22033899 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0047 0 0 0 0 0.0043 0.0170 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145351932 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145351932 145351932 Chr1(GRCh37):g.145351932T>C 7889-53 7889-53 NM_001039703.4:c.7889-53T>C p.? p.? 63 62 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.001695 0.001979 0.000000 0.000000 0.000000 0.000000 0.001349 0.000000 0.011494 0.001979 10 3 0 0 0 0 5 0 2 5898 1516 96 86 168 0 3706 152 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 0 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition T C T>C 0.343 0.205 254 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . 0.0092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0017 0 0 0 0 0.0013 0.0115 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 1 145351932 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145351932 145351932 Chr1(GRCh37):g.145351932T>C 2754-753 2754-753 NM_001351372.1:c.2754-753T>C p.? p.? 22 21 -753 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.001695 0.001979 0.000000 0.000000 0.000000 0.000000 0.001349 0.000000 0.011494 0.001979 10 3 0 0 0 0 5 0 2 5898 1516 96 86 168 0 3706 152 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 0 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition T C T>C 0.343 0.205 254 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . 0.0092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0017 0 0 0 0 0.0013 0.0115 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 1 145351932 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145351932 145351932 Chr1(GRCh37):g.145351932T>C 2811-753 2811-753 NM_001277444.1:c.2811-753T>C p.? p.? 23 22 613999 -753 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.001695 0.001979 0.000000 0.000000 0.000000 0.000000 0.001349 0.000000 0.011494 0.001979 10 3 0 0 0 0 5 0 2 5898 1516 96 86 168 0 3706 152 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 0 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition T C T>C 0.343 0.205 254 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . 0.0092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0017 0 0 0 0 0.0013 0.0115 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 1 145352001 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145352001 145352001 Chr1(GRCh37):g.145352001A>G 7905 7905 NM_001039703.4:c.7905A>G p.Gln2635= p.Gln2635Gln 63 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000146 0.000114 0.000000 0.000000 0.000000 0.000000 0.000286 0.000000 0.000000 0.000286 7 1 0 0 0 0 6 0 0 47806 8734 5346 970 5532 3884 20996 980 1364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.118 0.205 Q Gln CAA 0.256 Q Gln CAG 0.744 2635 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.A7905G:p.Q2635Q . . . . 0.14563107 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.2932 -0.211 -0.293 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0004 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.246 . . . . . . . . 1.0E-194 0.031 0.203 . 0.083 . . 0.065 . 0.266 . . . . . . . 1 1538 10 1/0 0,229,255 +. 1 145352001 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145352001 145352001 Chr1(GRCh37):g.145352001A>G 2754-684 2754-684 NM_001351372.1:c.2754-684A>G p.? p.? 22 21 -684 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000146 0.000114 0.000000 0.000000 0.000000 0.000000 0.000286 0.000000 0.000000 0.000286 7 1 0 0 0 0 6 0 0 47806 8734 5346 970 5532 3884 20996 980 1364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.118 0.205 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.A7905G:p.Q2635Q . . . . 0.14563107 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.2932 -0.211 -0.293 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0004 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.246 . . . . . . . . 1.0E-194 0.031 0.203 . 0.083 . . 0.065 . 0.266 . . . . . . . 1 1538 10 1/0 0,229,255 +. 1 145352001 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145352001 145352001 Chr1(GRCh37):g.145352001A>G 2811-684 2811-684 NM_001277444.1:c.2811-684A>G p.? p.? 23 22 613999 -684 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000146 0.000114 0.000000 0.000000 0.000000 0.000000 0.000286 0.000000 0.000000 0.000286 7 1 0 0 0 0 6 0 0 47806 8734 5346 970 5532 3884 20996 980 1364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.118 0.205 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.A7905G:p.Q2635Q . . . . 0.14563107 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.2932 -0.211 -0.293 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0004 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.246 . . . . . . . . 1.0E-194 0.031 0.203 . 0.083 . . 0.065 . 0.266 . . . . . . . 1 1538 10 1/0 0,229,255 +. 1 145352032 C T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145352032 145352032 Chr1(GRCh37):g.145352032C>T 7936 7936 NM_001039703.4:c.7936C>T p.Pro2646Ser p.Pro2646Ser 63 614000 -5 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.979797 3.46935 0.00427961 Cryptic Acceptor Strongly Activated 145352037 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 DUF1220 transition C T C>T 0.075 0.528 P Pro CCC 0.328 S Ser TCC 0.220 2646 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 179 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.C7936T:p.P2646S . . . . 0.112068966 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . -0.6927 -0.847 -0.693 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . ENST00000342960 0.438 0.438 . 0.090000 A6NDV3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.510 0.510000 . . 0.090000 . . 1.0E-179 0.236 0.245 . 0.180 . . 0.110 . 0.215 0.510 . . . . . . 1 1538 10 1/0 0,221,255 +. 1 145352032 C T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145352032 145352032 Chr1(GRCh37):g.145352032C>T 2754-653 2754-653 NM_001351372.1:c.2754-653C>T p.? p.? 22 21 -653 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145352037 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 transition C T C>T 0.075 0.528 179 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.C7936T:p.P2646S . . . . 0.112068966 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . -0.6927 -0.847 -0.693 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . ENST00000342960 0.438 0.438 . 0.090000 A6NDV3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.510 0.510000 . . 0.090000 . . 1.0E-179 0.236 0.245 . 0.180 . . 0.110 . 0.215 0.510 . . . . . . 1 1538 10 1/0 0,221,255 +. 1 145352032 C T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145352032 145352032 Chr1(GRCh37):g.145352032C>T 2811-653 2811-653 NM_001277444.1:c.2811-653C>T p.? p.? 23 22 613999 -653 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145352037 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 transition C T C>T 0.075 0.528 179 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.C7936T:p.P2646S . . . . 0.112068966 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . -0.6927 -0.847 -0.693 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . ENST00000342960 0.438 0.438 . 0.090000 A6NDV3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.510 0.510000 . . 0.090000 . . 1.0E-179 0.236 0.245 . 0.180 . . 0.110 . 0.215 0.510 . . . . . . 1 1538 10 1/0 0,221,255 +. 1 145353458 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145353458 145353458 Chr1(GRCh37):g.145353458G>C 8114-114 8114-114 NM_001039703.4:c.8114-114G>C p.? p.? 65 64 614000 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.008 0.125 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.29 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145353458 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145353458 145353458 Chr1(GRCh37):g.145353458G>C 2927-114 2927-114 NM_001351372.1:c.2927-114G>C p.? p.? 23 22 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.008 0.125 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.29 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145353458 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145353458 145353458 Chr1(GRCh37):g.145353458G>C 2984-114 2984-114 NM_001277444.1:c.2984-114G>C p.? p.? 24 23 613999 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.008 0.125 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.29 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145356616 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145356616 145356616 Chr1(GRCh37):g.145356616A>T 8621-103 8621-103 NM_001039703.4:c.8621-103A>T p.? p.? 69 68 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145356624 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.130 0.125 214 PASS . . . . . . . . . . . . . . . . 0.19672132 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.1328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145356616 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145356616 145356616 Chr1(GRCh37):g.145356616A>T 3434-103 3434-103 NM_001351372.1:c.3434-103A>T p.? p.? 27 26 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145356624 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.130 0.125 214 PASS . . . . . . . . . . . . . . . . 0.19672132 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.1328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145356616 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145356616 145356616 Chr1(GRCh37):g.145356616A>T 3092+2936 3092+2936 NM_001277444.1:c.3092+2936A>T p.? p.? 24 24 613999 2936 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 Cryptic Acceptor Strongly Activated 145356624 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.130 0.125 214 PASS . . . . . . . . . . . . . . . . 0.19672132 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.1328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145356666 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145356666 145356666 Chr1(GRCh37):g.145356666T>C 8621-53 8621-53 NM_001039703.4:c.8621-53T>C p.? p.? 69 68 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001104 0.000000 1 0 0 0 0 0 0 0 1 29418 8682 792 224 1568 0 13754 3492 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition T C T>C 0.134 0.125 217 PASS . . . . . . . . . . . . . . . . 0.20408164 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . -0.0903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.35 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.399e-05 0 0 0 0 0 0.0011 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 1 145356666 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145356666 145356666 Chr1(GRCh37):g.145356666T>C 3434-53 3434-53 NM_001351372.1:c.3434-53T>C p.? p.? 27 26 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001104 0.000000 1 0 0 0 0 0 0 0 1 29418 8682 792 224 1568 0 13754 3492 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition T C T>C 0.134 0.125 217 PASS . . . . . . . . . . . . . . . . 0.20408164 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . -0.0903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.35 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.399e-05 0 0 0 0 0 0.0011 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 1 145356666 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145356666 145356666 Chr1(GRCh37):g.145356666T>C 3092+2986 3092+2986 NM_001277444.1:c.3092+2986T>C p.? p.? 24 24 613999 2986 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001104 0.000000 1 0 0 0 0 0 0 0 1 29418 8682 792 224 1568 0 13754 3492 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition T C T>C 0.134 0.125 217 PASS . . . . . . . . . . . . . . . . 0.20408164 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . -0.0903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.35 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.399e-05 0 0 0 0 0 0.0011 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 1 145356766 C T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145356766 145356766 Chr1(GRCh37):g.145356766C>T 8668 8668 NM_001039703.4:c.8668C>T p.Pro2890Ser p.Pro2890Ser 69 614000 -5 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.979797 3.46935 0.00427961 Cryptic Acceptor Strongly Activated 145356771 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 DUF1220 0.000147 0.000606 0.000123 0.000000 0.000000 0.000388 0.000000 0.000000 0.000000 0.000606 10 7 1 0 0 2 0 0 0 67902 11556 8128 1194 8132 5154 27652 3986 2100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 7 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.205 0.125 P Pro CCC 0.328 S Ser TCC 0.220 2890 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 176 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon69:c.C8668T:p.P2890S . . . . 0.105960265 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2412 -0.523 -0.241 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 NBPF10 NBPF25P . . . 0.000 0.038 . . . . . . . . . 0 . . . . . . T 0.002 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.080000 A6NDV3 . . . . . . . . . 0.0003 0.0001 0.0001 0 0 0 0 0 0.0004 0.0007 0.0002 0 0 0 0 0 0 . . 0.246 . 0.159 0.159000 . . 0.080000 . . 1.0E-176 0.827 0.298 . 0.161 . . 0.295 . 0.042 0.159 . . . . . . 1 1538 10 1/0 0,209,255 +. 1 145356766 C T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145356766 145356766 Chr1(GRCh37):g.145356766C>T 3481 3481 NM_001351372.1:c.3481C>T p.Pro1161Ser p.Pro1161Ser 27 -5 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.979797 3.46935 0.00427961 Cryptic Acceptor Strongly Activated 145356771 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 0.000147 0.000606 0.000123 0.000000 0.000000 0.000388 0.000000 0.000000 0.000000 0.000606 10 7 1 0 0 2 0 0 0 67902 11556 8128 1194 8132 5154 27652 3986 2100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 7 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.205 0.125 P Pro CCC 0.328 S Ser TCC 0.220 1161 11 4 Rabbit -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.48 IV.32 176 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon69:c.C8668T:p.P2890S . . . . 0.105960265 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2412 -0.523 -0.241 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 NBPF10 NBPF25P . . . 0.000 0.038 . . . . . . . . . 0 . . . . . . T 0.002 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.080000 A6NDV3 . . . . . . . . . 0.0003 0.0001 0.0001 0 0 0 0 0 0.0004 0.0007 0.0002 0 0 0 0 0 0 . . 0.246 . 0.159 0.159000 . . 0.080000 . . 1.0E-176 0.827 0.298 . 0.161 . . 0.295 . 0.042 0.159 . . . . . . 1 1538 10 1/0 0,209,255 +. 1 145356766 C T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145356766 145356766 Chr1(GRCh37):g.145356766C>T 3092+3086 3092+3086 NM_001277444.1:c.3092+3086C>T p.? p.? 24 24 613999 3086 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 Cryptic Acceptor Strongly Activated 145356771 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 0.000147 0.000606 0.000123 0.000000 0.000000 0.000388 0.000000 0.000000 0.000000 0.000606 10 7 1 0 0 2 0 0 0 67902 11556 8128 1194 8132 5154 27652 3986 2100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 7 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.205 0.125 176 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon69:c.C8668T:p.P2890S . . . . 0.105960265 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2412 -0.523 -0.241 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 NBPF10 NBPF25P . . . 0.000 0.038 . . . . . . . . . 0 . . . . . . T 0.002 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.080000 A6NDV3 . . . . . . . . . 0.0003 0.0001 0.0001 0 0 0 0 0 0.0004 0.0007 0.0002 0 0 0 0 0 0 . . 0.246 . 0.159 0.159000 . . 0.080000 . . 1.0E-176 0.827 0.298 . 0.161 . . 0.295 . 0.042 0.159 . . . . . . 1 1538 10 1/0 0,209,255 +. 1 145356795 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145356795 145356795 Chr1(GRCh37):g.145356795A>T 8672+25 8672+25 NM_001039703.4:c.8672+25A>T p.? p.? 69 69 614000 25 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.967377 3.57506 0 0.000605 0.000340 0.000836 0.000000 0.000000 0.001404 0.000433 0.006608 0.000000 0.006608 23 1 6 0 0 7 6 3 0 38028 2938 7178 954 6512 4984 13850 454 1158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 6 0 0 7 6 3 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transversion A T A>T 0.146 0.367 180 PASS . . . . . . . . . . . . . . . . 0.11409396 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.2455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0006 0.0008 0 0 0.0066 0.0004 0 0.0014 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 1 145356795 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145356795 145356795 Chr1(GRCh37):g.145356795A>T 3485+25 3485+25 NM_001351372.1:c.3485+25A>T p.? p.? 27 27 25 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.967377 3.57506 0 0.000605 0.000340 0.000836 0.000000 0.000000 0.001404 0.000433 0.006608 0.000000 0.006608 23 1 6 0 0 7 6 3 0 38028 2938 7178 954 6512 4984 13850 454 1158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 6 0 0 7 6 3 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transversion A T A>T 0.146 0.367 180 PASS . . . . . . . . . . . . . . . . 0.11409396 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.2455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0006 0.0008 0 0 0.0066 0.0004 0 0.0014 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 1 145356795 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145356795 145356795 Chr1(GRCh37):g.145356795A>T 3092+3115 3092+3115 NM_001277444.1:c.3092+3115A>T p.? p.? 24 24 613999 3115 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 0.000605 0.000340 0.000836 0.000000 0.000000 0.001404 0.000433 0.006608 0.000000 0.006608 23 1 6 0 0 7 6 3 0 38028 2938 7178 954 6512 4984 13850 454 1158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 6 0 0 7 6 3 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transversion A T A>T 0.146 0.367 180 PASS . . . . . . . . . . . . . . . . 0.11409396 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.2455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0006 0.0008 0 0 0.0066 0.0004 0 0.0014 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 1 145358190 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145358190 145358190 Chr1(GRCh37):g.145358190G>C 8846-114 8846-114 NM_001039703.4:c.8846-114G>C p.? p.? 71 70 614000 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.000 -0.682 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.4961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145358190 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145358190 145358190 Chr1(GRCh37):g.145358190G>C 3659-114 3659-114 NM_001351372.1:c.3659-114G>C p.? p.? 29 28 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.000 -0.682 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.4961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145358190 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145358190 145358190 Chr1(GRCh37):g.145358190G>C 3092+4510 3092+4510 NM_001277444.1:c.3092+4510G>C p.? p.? 24 24 613999 4510 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 transversion G C G>C 0.000 -0.682 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.4961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145362876 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145362876 145362876 Chr1(GRCh37):g.145362876A>T 9578-103 9578-103 NM_001039703.4:c.9578-103A>T p.? p.? 77 76 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145362884 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.059 0.205 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.1841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.48 0.34 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145362876 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145362876 145362876 Chr1(GRCh37):g.145362876A>T 3767+4464 3767+4464 NM_001351372.1:c.3767+4464A>T p.? p.? 29 29 4464 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 Cryptic Acceptor Strongly Activated 145362884 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.059 0.205 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.1841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.48 0.34 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145362876 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145362876 145362876 Chr1(GRCh37):g.145362876A>T 3093-5565 3093-5565 NM_001277444.1:c.3093-5565A>T p.? p.? 25 24 613999 -5565 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 Cryptic Acceptor Strongly Activated 145362884 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.059 0.205 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.1841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.48 0.34 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145362926 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145362926 145362926 Chr1(GRCh37):g.145362926T>C 9578-53 9578-53 NM_001039703.4:c.9578-53T>C p.? p.? 77 76 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 transition T C T>C 0.079 0.205 228 PASS . . . . . . . . . . . . . . . . 0.23880596 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.1237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.45 0.3 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +. 1 145362926 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145362926 145362926 Chr1(GRCh37):g.145362926T>C 3767+4514 3767+4514 NM_001351372.1:c.3767+4514T>C p.? p.? 29 29 4514 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 transition T C T>C 0.079 0.205 228 PASS . . . . . . . . . . . . . . . . 0.23880596 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.1237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.45 0.3 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +. 1 145362926 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145362926 145362926 Chr1(GRCh37):g.145362926T>C 3093-5515 3093-5515 NM_001277444.1:c.3093-5515T>C p.? p.? 25 24 613999 -5515 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 transition T C T>C 0.079 0.205 228 PASS . . . . . . . . . . . . . . . . 0.23880596 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.1237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.45 0.3 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +. 1 145362995 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145362995 145362995 Chr1(GRCh37):g.145362995A>G 9594 9594 NM_001039703.4:c.9594A>G p.Gln3198= p.Gln3198Gln 77 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.012 0.205 Q Gln CAA 0.256 Q Gln CAG 0.744 3198 230 PASS . . . . . . . . . . . . . . . . 0.24390244 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.1006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.15 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,247,255 +. 1 145362995 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145362995 145362995 Chr1(GRCh37):g.145362995A>G 3767+4583 3767+4583 NM_001351372.1:c.3767+4583A>G p.? p.? 29 29 4583 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.012 0.205 230 PASS . . . . . . . . . . . . . . . . 0.24390244 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.1006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.15 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,247,255 +. 1 145362995 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145362995 145362995 Chr1(GRCh37):g.145362995A>G 3093-5446 3093-5446 NM_001277444.1:c.3093-5446A>G p.? p.? 25 24 613999 -5446 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.012 0.205 230 PASS . . . . . . . . . . . . . . . . 0.24390244 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.1006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.15 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,247,255 +. 1 145363055 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145363055 145363055 Chr1(GRCh37):g.145363055A>T 9629+25 9629+25 NM_001039703.4:c.9629+25A>T p.? p.? 77 77 614000 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 6 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.256 0.205 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.0439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.38 0.12 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . 0 . 0 . . . . 0 . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145363055 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145363055 145363055 Chr1(GRCh37):g.145363055A>T 3767+4643 3767+4643 NM_001351372.1:c.3767+4643A>T p.? p.? 29 29 4643 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 6 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.256 0.205 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.0439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.38 0.12 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . 0 . 0 . . . . 0 . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145363055 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145363055 145363055 Chr1(GRCh37):g.145363055A>T 3093-5386 3093-5386 NM_001277444.1:c.3093-5386A>T p.? p.? 25 24 613999 -5386 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 6 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.256 0.205 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.0439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.38 0.12 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . 0 . 0 . . . . 0 . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs879915706 1 145364452 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145364452 145364452 Chr1(GRCh37):g.145364452G>C 9803-114 9803-114 NM_001039703.4:c.9803-114G>C p.? p.? 79 78 614000 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 rs879915706 no no 0 0.000000 0 transversion G C G>C 0.000 -1.247 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.6037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879915706 1 145364452 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145364452 145364452 Chr1(GRCh37):g.145364452G>C 3768-3989 3768-3989 NM_001351372.1:c.3768-3989G>C p.? p.? 30 29 -3989 3' 92.7607 9.45065 0.983696 13.3242 92.7607 9.45065 0.983696 13.3242 0 rs879915706 no no 0 0.000000 0 transversion G C G>C 0.000 -1.247 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.6037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879915706 1 145364452 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145364452 145364452 Chr1(GRCh37):g.145364452G>C 3093-3989 3093-3989 NM_001277444.1:c.3093-3989G>C p.? p.? 25 24 613999 -3989 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 rs879915706 no no 0 0.000000 0 transversion G C G>C 0.000 -1.247 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.6037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781953423 1 145368432 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145368432 145368432 Chr1(GRCh37):g.145368432C>A 10419-9 10419-9 NM_001039703.4:c.10419-9C>A p.? p.? 84 83 614000 -9 3' 92.7607 9.45065 0.983009 14.4767 92.5747 VIII.87 0.973794 XII.33 -0.0271406 rs781953423 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 274604 23342 34394 10094 18822 30774 125196 25554 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.004 0.609 190 PASS . . . . . . . . . . . . . . . . 0.13445379 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.2745 . . . . . . . . 3.949e-05 . . . 0.0002 4.53e-05 8.649e-05 0 0 0 0 6.061e-05 0.0001 2.892e-05 8.919e-05 0 0 0 0 6.095e-05 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781953423 . . . . . . . . . . . . . . . . . . . . 0.0001 0.034 . . . . . . . 0 4.099e-06 0 0 0 0 0 0 3.249e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs781953423 1 145368432 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145368432 145368432 Chr1(GRCh37):g.145368432C>A 3768-9 3768-9 NM_001351372.1:c.3768-9C>A p.? p.? 30 29 -9 3' 92.7607 9.45065 0.983696 13.3242 92.5747 VIII.87 0.973272 11.1408 -0.0275481 rs781953423 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 274604 23342 34394 10094 18822 30774 125196 25554 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.004 0.609 190 PASS . . . . . . . . . . . . . . . . 0.13445379 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.2745 . . . . . . . . 3.949e-05 . . . 0.0002 4.53e-05 8.649e-05 0 0 0 0 6.061e-05 0.0001 2.892e-05 8.919e-05 0 0 0 0 6.095e-05 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781953423 . . . . . . . . . . . . . . . . . . . . 0.0001 0.034 . . . . . . . 0 4.099e-06 0 0 0 0 0 0 3.249e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs781953423 1 145368432 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145368432 145368432 Chr1(GRCh37):g.145368432C>A 3093-9 3093-9 NM_001277444.1:c.3093-9C>A p.? p.? 25 24 613999 -9 3' 92.7607 9.45065 0.983009 13.8464 92.5747 VIII.87 0.973794 11.663 -0.0271406 rs781953423 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 274604 23342 34394 10094 18822 30774 125196 25554 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.004 0.609 190 PASS . . . . . . . . . . . . . . . . 0.13445379 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.2745 . . . . . . . . 3.949e-05 . . . 0.0002 4.53e-05 8.649e-05 0 0 0 0 6.061e-05 0.0001 2.892e-05 8.919e-05 0 0 0 0 6.095e-05 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781953423 . . . . . . . . . . . . . . . . . . . . 0.0001 0.034 . . . . . . . 0 4.099e-06 0 0 0 0 0 0 3.249e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs1043749 1 145368473 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145368473 145368473 Chr1(GRCh37):g.145368473G>C 10451 10451 NM_001039703.4:c.10451G>C p.Arg3484Pro p.Arg3484Pro 84 614000 33 3' 92.7607 9.45065 0.983009 14.4767 92.7607 9.45065 0.983009 14.0766 0 DUF1220 rs1043749 yes no Frequency 1 0.000000 0 0.000209 0.000000 0.001279 0.000000 0.000227 0.000034 0.000032 0.000042 0.000478 0.001279 56 0 43 0 4 1 4 1 3 267600 21146 33620 10088 17636 29766 125230 23840 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 0 43 0 4 1 4 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.651 R Arg CGT 0.082 P Pro CCT 0.283 3484 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 229 PASS . . . . . . . . . . . . . UNKNOWN . . 0.23923445 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 209.0 . . . . . . . . . . -2.1033 . . . . . . . . 6.314e-05 . . . 9.984e-05 7.762e-05 8.693e-05 0.0002 0 2.375e-05 0 0.0002 0 4.732e-05 8.962e-05 0 0 1.841e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.44 0.3 182 ENSG00000163386 . NBPF9 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET 1 rs1043749 . . . . . . . . . . . . II.25 . . 0.732 -1.09 . 1.000000 . . . . . . . . . . 0 0.0002 0.0013 0 6.072e-05 0 8.996e-06 0.0006 3.36e-05 0 0.0002 0 0 0.0026 0.0003 0.0002 0 . . . . -1.807 -1.807000 . . 1.000000 . . 1.0E-229 . . . . . . . . . -1.807 . . rs1043749 rs1043749 rs1043749 rs1043749 1 1538 10 1/0 0,206,255 +rs1043749 (chr1:145368473 G/C) 1 145368473 G C Transcript NM_001351372.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) NBPF26 +rs1043749 (chr1:145368473 G/C) 1 145368473 G C Transcript NM_001277444.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) NBPF9 +rs141350599 1 145555699 G A - ANKRD35 26323 Ankyrin repeat domain 35 NM_144698.4 1 3363 3006 NP_653299.4 Q8N283 substitution missense exon GRCh37 145555699 145555699 Chr1(GRCh37):g.145555699G>A 47 47 NM_144698.4:c.47G>A p.Arg16Lys p.Arg16Lys 2 8 3' 74.3224 5.04875 0.03872 7.55421 74.3224 5.04875 0.020473 7.46256 -0.157085 rs141350599 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.003142 0.000837 0.002421 0.003785 0.000000 0.000113 0.005241 0.000957 0.004484 0.005241 794 19 72 34 0 3 616 24 26 252688 22698 29738 8984 16412 26450 117540 25068 5798 0.000024 0.000000 0.000000 0.000223 0.000000 0.000000 0.000017 0.000000 0.000345 3 0 0 1 0 0 1 0 1 788 19 72 32 0 3 614 24 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8558 4405 12963 42 1 43 0.00488372 0.000226963 0.00330617 0.00488372 0.000226963 0.00330617 54 transition G A G>A 0.992 -0.117 R Arg AGA 0.205 K Lys AAA 0.425 16 11 6 Little brown bat 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 241.65 0.00 Tolerated 0.72 III.97 255 PASS . 0.0023 0.01 . 0.004 . 0.0014 0.0029 . 0.005 . . ANKRD35:uc001eob.1:exon2:c.G47A:p.R16K ANKRD35:NM_144698:exon2:c.G47A:p.R16K . . 0.98101264 . . @ 155 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 158.0 . . . 0.0002 0.0033 0.0049 0.0002 0.0033 0.0049 . -0.6086 -0.405 -0.609 c . . . . . 3.126e-03 . . . 0.0004 0.0030 0.0035 0 0.0005 0.0050 0.0046 8.258e-05 0.0004 0.0032 0.0034 0 0.0005 0.0051 0.0016 8.322e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.149 0.0014 . . . 0.19 0.41 182 ENSG00000198483 ANKRD35 ANKRD35 . . . 1.000 0.473 . 311 0.00478638 64976 304 0.00506785 59986 Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.344 . . . HOM 0.61 rs141350599 0.011 0.007 . . . . . 0.0022893772893772895 0.0 0.0055248618784530384 0.0 0.00395778364116095 VIII.59 2.68E-4 . V.99 0.277 . 0.270000 Q8N283 . . . 0.003306 . . . . . 0.0008 0.0032 0.0024 0.0038 0 0.0009 0.0054 0.0048 0.0001 0.0009 0.0025 0.0024 0.0033 0 0.0011 0.0039 0.0031 . . 0.185 . 0.126 0.126000 . . 0.270000 . . 1.0E-255 0.996 0.391 . 0.697 . . 0.162 . 0.147 0.126 . 0.011 . . rs141350599 rs141350599 1 1538 255 1.I 0,0,255 +. (chr1:146024431 G/T) 1 146024431 G T Not on a known gene +rs7415277 (chr1:146034211 C/G) 1 146034211 C G Not on a known gene +. (chr1:146034294 G/C) 1 146034294 G C Not on a known gene +rs61807284 (chr1:146035833 C/G) 1 146035833 C G Not on a known gene +rs61807291 (chr1:146036793 A/G) 1 146036793 A G Not on a known gene +rs61807293 (chr1:146036843 T/A) 1 146036843 T A Not on a known gene +. (chr1:146037495 A/G) 1 146037495 A G Not on a known gene +. (chr1:146037571 T/G) 1 146037571 T G Not on a known gene +. (chr1:146037602 G/T) 1 146037602 G T Not on a known gene +. (chr1:146038258 T/C) 1 146038258 T C Not on a known gene +rs12049079 (chr1:146040743 C/T) 1 146040743 C T Not on a known gene +rs9437889 (chr1:146040823 C/A) 1 146040823 C A Not on a known gene +rs9437892 (chr1:146040956 G/T) 1 146040956 G T Not on a known gene +rs28734780 (chr1:146040970 C/A) 1 146040970 C A Not on a known gene +. (chr1:146046928 T/C) 1 146046928 T C Not on a known gene +rs9970097 (chr1:146046967 A/C) 1 146046967 A C Not on a known gene +rs9331715 (chr1:146047109 G/A) 1 146047109 G A Not on a known gene +. (chr1:146048233 C/T) 1 146048233 C T Not on a known gene +. (chr1:146048241 G/C) 1 146048241 G C Not on a known gene +. (chr1:146048334 C/T) 1 146048334 C T Not on a known gene +. (chr1:146049119 G/A) 1 146049119 G A Not on a known gene +. (chr1:146049137 C/G) 1 146049137 C G Not on a known gene +. (chr1:146049153 T/A) 1 146049153 T A Not on a known gene +. (chr1:146049251 G/C) 1 146049251 G C Not on a known gene +. (chr1:146049279 G/C) 1 146049279 G C Not on a known gene +. (chr1:146049288 G/A) 1 146049288 G A Not on a known gene +rs781952367 (chr1:146053290 C/T) 1 146053290 C T Not on a known gene +rs61804598 (chr1:146053318 G/A) 1 146053318 G A Not on a known gene +rs28480670 (chr1:146054384 C/T) 1 146054384 C T Not on a known gene +rs28566856 (chr1:146054419 C/G) 1 146054419 C G Not on a known gene +rs200774265 (chr1:146057252 G/T) 1 146057252 G T Not on a known gene +rs782644255 (chr1:146057254 T/C) 1 146057254 T C Not on a known gene +rs6680516 (chr1:146057368 A/G) 1 146057368 A G Not on a known gene +rs9437935 (chr1:146079665 A/G) 1 146079665 A G No Alamut gene - other known genes: FAM108A11P FAM108A11P +rs9437936 (chr1:146079834 G/C) 1 146079834 G C No Alamut gene - other known genes: FAM108A11P FAM108A11P +rs781799292 (chr1:146215204 G/C) 1 146215204 G C Not on a known gene +rs782047622 (chr1:146216915 A/G) 1 146216915 A G Not on a known gene +. (chr1:146218123 T/C) 1 146218123 T C Not on a known gene +. (chr1:146218289 T/G) 1 146218289 T G Not on a known gene +. (chr1:146218404 A/G) 1 146218404 A G Not on a known gene +. (chr1:146218480 T/G) 1 146218480 T G Not on a known gene +rs368838510 (chr1:146218511 G/T) 1 146218511 G T Not on a known gene +. (chr1:146223208 A/G) 1 146223208 A G Not on a known gene +. (chr1:146224427 T/C) 1 146224427 T C Not on a known gene +. (chr1:146224786 A/G) 1 146224786 A G Not on a known gene +. (chr1:146229501 A/G) 1 146229501 A G Not on a known gene +. (chr1:146231077 A/G) 1 146231077 A G Not on a known gene +. (chr1:146231857 G/A) 1 146231857 G A Not on a known gene +. (chr1:146233292 G/C) 1 146233292 G C Not on a known gene +. (chr1:146238495 C/T) 1 146238495 C T Not on a known gene +. (chr1:146239856 A/G) 1 146239856 A G Not on a known gene +. (chr1:146240455 T/C) 1 146240455 T C Not on a known gene +. (chr1:146240494 A/C) 1 146240494 A C Not on a known gene +. (chr1:146240636 G/A) 1 146240636 G A Not on a known gene +. (chr1:146248135 C/T) 1 146248135 C T Not on a known gene +. (chr1:146250942 A/C) 1 146250942 A C Not on a known gene +rs71253715 (chr1:146253035 C/T) 1 146253035 C T Not on a known gene +rs587749188 1 146395471 C G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146395471 146395471 Chr1(GRCh37):g.146395471C>G 130 130 NM_001278141.1:c.130C>G p.Leu44Val p.Leu44Val 7 608607 -46 5' 73.3142 5.95993 0.947281 1.52865 73.3142 5.95993 0.947281 1.71806 0 New Donor Site 146395470 0.48099 0.003823 62.0499 rs587749188 yes no Frequency/1000G 2 C 0.005591 G 28 0.005591 0.002300 0.001000 0.009900 0.009900 0.005800 0.002414 0.007401 0.000519 0.000000 0.000232 0.000000 0.002828 0.001401 0.001322 0.007401 189 79 6 0 2 0 93 6 3 78300 10674 11554 1620 8618 6394 32888 4282 2270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 189 79 6 0 2 0 93 6 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.489 L Leu CTA 0.070 V Val GTA 0.114 44 11 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Not scored 0.0 0.0 178 PASS . . . . . 0.0023 0.0056 0.0058 0.0099 0.0099 0.001 . . NBPF12:NM_001278141:exon7:c.C130G:p.L44V . . 0.10891089 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.055 . . 101.0 . . . . . . . . . . -1.6209 -1.764 -1.621 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.053 0.0056 . . . 0.38 0.27 182 ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . T 0.002 0.001 . . 37 . 0.003 . . 0.408 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.110 . 0.213 . LowAF 1 rs587749188 . . . . . . . . . . . . IV.31 . ENST00000309471 I.44 -2.89 . 0.240000 . . . . . . 0.002 . . . 0 3.377e-05 9.109e-05 0 0 0 0 0.0006 0 0.0157 0.0098 0.0087 0 0.0021 0.0020 0.0107 0.0031 . . 0.924 . -1.567 -1.567000 . . 1.000000 . . 1.0E-178 0.000 0.063 . 0.016 0.001 . 0.003 . 0.001 -1.567 -3.380 . . . rs4323762 rs4323762 1 1538 10 1/0 0,227,255 +. 1 146404536 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146404536 146404536 Chr1(GRCh37):g.146404536A>G 1092-53 1092-53 NM_001278141.1:c.1092-53A>G p.? p.? 14 13 608607 -53 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.63853 0 transition A G A>G 0.000 0.367 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . . . . . . . . . -0.3774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs3881692 rs3881692 1 1538 10 1/0 0,252,255 +. 1 146404538 G A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146404538 146404538 Chr1(GRCh37):g.146404538G>A 1092-51 1092-51 NM_001278141.1:c.1092-51G>A p.? p.? 14 13 608607 -51 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.52572 0 New Acceptor Site 146404540 5.84301 0.012964 72.9985 transition G A G>A 0.000 -0.763 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . -0.6106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.14 182 ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs112459449 rs112459449 1 1538 10 1/0 0,255,255 +. 1 146410851 C T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146410851 146410851 Chr1(GRCh37):g.146410851C>T 1905-33 1905-33 NM_001278141.1:c.1905-33C>T p.? p.? 19 18 608607 -33 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.76774 0 transition C T C>T 0.000 -0.360 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.4451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.22 0.12 182 ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs3897451 rs3897451 1 1538 10 1/0 0,249,255 +. 1 146410929 G C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146410929 146410929 Chr1(GRCh37):g.146410929G>C 1950 1950 NM_001278141.1:c.1950G>C p.Gln650His p.Gln650His 19 608607 46 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.56338 0 transversion G C G>C 0.000 -0.521 Q Gln CAG 0.744 H His CAC 0.587 650 11 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Not scored 0.0 0.0 185 PASS . . . . . . . . . . . . NBPF12:uc031poi.1:exon19:c.G1950C:p.Q650H NBPF12:NM_001278141:exon19:c.G1950C:p.Q650H . . 0.125 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.402 . @ . . . . . 1 0.316 . . 64.0 . . . . . . . . . . -0.9962 -1.232 -0.996 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.072 @ . . . . . . ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.008 . . 0.465 . . . 0.271 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.042 . 0.043 . LowAF 0.06 . . . . . . . . . . . . . II.97 . . I.32 -1.89 . 0.300000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.145 -0.145000 . . 0.300000 . . 1.0E-185 0.002 0.151 . 0.158 0.155 . 0.061 . 0.268 -0.145 -0.677 . . . . . 1 1538 10 1/0 0,247,255 +rs369005340 1 146412059 C T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146412059 146412059 Chr1(GRCh37):g.146412059C>T 2120-77 2120-77 NM_001278141.1:c.2120-77C>T p.? p.? 20 19 608607 -77 3' 91.8347 5.70008 0.850282 7.03708 91.8347 5.70008 0.850282 6.80492 0 rs369005340 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7470 1578 234 52 138 0 3314 1874 280 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes transition C T C>T 0.000 -0.844 212 PASS . . . . . . . . . . . . . . . . 0.19512194 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.6292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.27 0.3 182 ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369005340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs9331715 rs9331715 1 1538 10 1/0 0,255,255 +. 1 146412201 T G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146412201 146412201 Chr1(GRCh37):g.146412201T>G 2185 2185 NM_001278141.1:c.2185T>G p.Ser729Ala p.Ser729Ala 20 608607 -8 5' 81.9751 8.87834 0.96301 0 81.9751 8.87834 0.96301 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5556 616 868 170 364 738 2588 70 142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 120 Exomes transversion T G T>G 0.000 -1.005 S Ser TCC 0.220 A Ala GCC 0.403 729 11 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.23 IV.32 234 PASS . . . . . . . . . . . . . NBPF12:NM_001278141:exon20:c.T2185G:p.S729A . . 0.25862068 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.004 . . 58.0 . . . . . . . . . . -1.6701 -1.783 -1.670 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.105 @ . . . 0.62 0.62 182 ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.157 0.006 . . 37 . 0.005 . . 0.465 . . . . 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 . . . . . . 0.023 . 0.182 . HET 1 . . . . . . . . . . . . . I.87 . . 0.807 -0.739 . 1.000000 Q86T75-2 . . . . . 0.002 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.558 . -1.024 -1.024000 . . 1.000000 . . 1.0E-234 0.028 0.201 . 0.043 . . 0.057 . 0.003 -1.024 . . . . rs9970097 rs9970097 1 1538 10 1/0 0,255,255 +. 1 146412839 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146412839 146412839 Chr1(GRCh37):g.146412839T>C 2359 2359 NM_001278141.1:c.2359T>C p.Ser787Pro p.Ser787Pro 21 608607 -40 5' 71.4448 7.13302 0.703233 2.38205 71.4448 7.13302 0.703233 2.52328 0 transition T C T>C 0.000 -0.198 S Ser TCT 0.185 P Pro CCT 0.283 787 11 7 Dolphin -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.13 IV.32 206 PASS . . . . . . . . . . . . . NBPF12:NM_001278141:exon21:c.T2359C:p.S787P . . 0.17567568 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.130 . . 148.0 . . . . . . . . . . -1.0724 -1.259 -1.072 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.112 @ . . . . . . ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.022 0.001 . . 37 . 0.077 . . 0.393 . . . 0.520 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.304 . . 0.351 . . . . . . 3 . . . . . . 0.055 . 0.406 . HET 0.01 . . . . . . . . . . . . . II.93 . . 0.801 -0.539 . 0.010000 Q86T75-2 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.235 -0.235000 . . 0.010000 . . 1.0E-206 0.004 0.165 . 0.016 0.002 . 0.313 . 0.063 -0.235 0.397 . . . . . 1 1538 10 1/0 0,216,255 +. 1 146419393 C G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution synonymous exon GRCh37 146419393 146419393 Chr1(GRCh37):g.146419393C>G 2664 2664 NM_001278141.1:c.2664C>G p.Pro888= p.Pro888Pro 24 608607 -3 5' 95.6376 X.36 0.996803 IV.92 92.583 10.0326 0.996471 4.56674 -0.0307753 Cryptic Donor Strongly Activated 146419388 0.023033 61.3073 4.40274 0.588677 74.0033 0.000069 0.001027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001027 1 1 0 0 0 0 0 0 0 14582 974 2858 328 2042 2744 4984 172 480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 74 Exomes transversion C G C>G 0.000 -0.360 P Pro CCC 0.328 P Pro CCG 0.115 888 184 PASS . . . . . . . . . . . . . NBPF12:NM_001278141:exon24:c.C2664G:p.P888P . . 0.12307692 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.128 . @ . . . . . 1 0.017 . . 65.0 . . . . . . . . . . -0.3887 -0.234 -0.389 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.095 @ . . . . . . ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0.014 . . . 0.006 . . . 0.0010 6.858e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . . . . . . . . 9.999999999999999E-185 0.015 0.189 . 0.083 0.064 . 0.050 . 0.039 . -1.598 . . . . . 1 1538 10 1/0 0,247,255 +. 1 146419397 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution splice site GRCh37 146419397 146419397 Chr1(GRCh37):g.146419397T>C 2666+2 2666+2 NM_001278141.1:c.2666+2T>C p.? p.? 24 24 608607 2 5' 95.6376 X.36 0.996803 IV.92 88.5047 0 0 0 -0.691528 0.000068 0.001008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001008 1 1 0 0 0 0 0 0 0 14802 992 2890 346 2086 2744 5074 174 496 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 72 Exomes transition T C T>C 0.000 -0.279 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 69.0 . . . . . . . . . . -0.3343 -0.809 -0.334 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing splicing splicing . . 0.091 @ . . . 0.28 0.13 182 ENSG00000186275 NBPF12 NBPF12 . . NM_001278141:exon24:c.2666+2T>C 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . 0.583 -1.17 . . . 0.9858 0.432 . . . . . . . 0.0010 6.756e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.013 . -0.357 -0.357000 . . . . . 1.0E-188 0.020 0.195 . 0.090 0.129 . 0.298 . 0.267 -0.357 0.158 . . . . . 1 1538 10 1/0 0,245,255 +. 1 146422388 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146422388 146422388 Chr1(GRCh37):g.146422388T>C 2891+1426 2891+1426 NM_001278141.1:c.2891+1426T>C p.? p.? 26 26 608607 1426 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition T C T>C 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.39130434 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.7797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146422457 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146422457 146422457 Chr1(GRCh37):g.146422457A>G 2891+1495 2891+1495 NM_001278141.1:c.2891+1495A>G p.? p.? 26 26 608607 1495 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition A G A>G 0.000 -0.360 233 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon27:c.A3186G:p.Q1062Q LOC100288142:uc021ott.2:exon103:c.A11397G:p.Q3799Q NBPF20:NM_001278267:exon103:c.A11403G:p.Q3801Q . . 0.25396827 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.4242 -0.225 -0.424 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . 0.18 0.13 182 ENSG00000186275 LOC100288142 NBPF20 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0000000000000001E-233 0.303 0.251 . 0.062 . . 0.046 . 0.272 . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146422488 C T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146422488 146422488 Chr1(GRCh37):g.146422488C>T 2891+1526 2891+1526 NM_001278141.1:c.2891+1526C>T p.? p.? 26 26 608607 1526 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 Cryptic Acceptor Strongly Activated 146422493 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 transition C T C>T 0.000 -0.440 190 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon27:c.C3217T:p.P1073S LOC100288142:uc021ott.2:exon103:c.C11428T:p.P3810S NBPF20:NM_001278267:exon103:c.C11434T:p.P3812S . . 0.1369863 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.446 . @ . . . . . 1 0.270 . . 73.0 . . . . . . . . . . -0.8896 -1.174 -0.890 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000186275 LOC100288142 NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.168 . . 0.291 . . . 0.647 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . 0.235 . LowAF . . . . . . . . . . . . . . . . ENST00000442909 0.592 -1.18 . 0.060000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.492 -0.492000 . . 0.060000 . . 1.0E-190 0.253 0.247 . 0.140 . . 0.264 . 0.267 -0.492 . . . . . . 1 1538 10 1/0 0,243,255 +. 1 146427153 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146427153 146427153 Chr1(GRCh37):g.146427153T>C 2891+6191 2891+6191 NM_001278141.1:c.2891+6191T>C p.? p.? 26 26 608607 6191 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition T C T>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.47368422 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.5554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146427222 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146427222 146427222 Chr1(GRCh37):g.146427222A>G 2891+6260 2891+6260 NM_001278141.1:c.2891+6260A>G p.? p.? 26 26 608607 6260 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition A G A>G 0.000 0.286 225 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon33:c.A3918G:p.Q1306Q . NBPF20:NM_001278267:exon109:c.A12135G:p.Q4045Q . . 0.22857143 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . -0.4234 -0.242 -0.423 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF20 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-225 0.436 0.262 . . . . 0.242 . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 146427253 C T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146427253 146427253 Chr1(GRCh37):g.146427253C>T 2891+6291 2891+6291 NM_001278141.1:c.2891+6291C>T p.? p.? 26 26 608607 6291 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 Cryptic Acceptor Strongly Activated 146427258 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 transition C T C>T 0.004 -0.602 193 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon33:c.C3949T:p.P1317S . NBPF20:NM_001278267:exon109:c.C12166T:p.P4056S . . 0.14285715 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.306 . @ . . . . . 1 0.054 . . 77.0 . . . . . . . . . . -1.0196 -1.269 -1.020 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.069 . . 0.377 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . 0.199 . LowAF . . . . . . . . . . . . . . . . ENST00000442909 . . . 0.210000 . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.575 -0.575000 . . 0.210000 . . 1.0E-193 0.328 0.253 . 0.130 . . 0.062 . 0.036 -0.575 . . . . . . 1 1538 10 1/0 0,241,255 +. 1 146427282 A T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146427282 146427282 Chr1(GRCh37):g.146427282A>T 2891+6320 2891+6320 NM_001278141.1:c.2891+6320A>T p.? p.? 26 26 608607 6320 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion A T A>T 0.000 -0.763 184 PASS . . . . . . . . . . . . . . . . 0.12162162 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.5934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 146431918 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146431918 146431918 Chr1(GRCh37):g.146431918T>C 2891+10956 2891+10956 NM_001278141.1:c.2891+10956T>C p.? p.? 26 26 608607 10956 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition T C T>C 0.039 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.7496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146431987 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146431987 146431987 Chr1(GRCh37):g.146431987A>G 2891+11025 2891+11025 NM_001278141.1:c.2891+11025A>G p.? p.? 26 26 608607 11025 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition A G A>G 0.268 0.125 212 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon39:c.A4650G:p.Q1550Q . . . . 0.19354838 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.2908 -0.212 -0.291 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-212 0.996 0.391 . . . . 0.242 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146432047 A T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146432047 146432047 Chr1(GRCh37):g.146432047A>T 2891+11085 2891+11085 NM_001278141.1:c.2891+11085A>T p.? p.? 26 26 608607 11085 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion A T A>T 0.039 0.125 191 PASS . . . . . . . . . . . . . . . . 0.13953489 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146432808 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146432808 146432808 Chr1(GRCh37):g.146432808A>G 2892-10885 2892-10885 NM_001278141.1:c.2892-10885A>G p.? p.? 27 26 608607 -10885 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.52 0 transition A G A>G 0.000 0.609 242 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon40:c.A4801G:p.R1601G . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . -0.7580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.44 . . . . . . . . . . . . . III.78 . ENST00000442909 0.797 0.797 . 0.480000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.632 0.632000 . . 0.480000 . . 1.0E-242 . . . . . . . . . 0.632 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146436683 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146436683 146436683 Chr1(GRCh37):g.146436683T>C 2892-7010 2892-7010 NM_001278141.1:c.2892-7010T>C p.? p.? 27 26 608607 -7010 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.52 0 transition T C T>C 0.142 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.1519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146436752 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146436752 146436752 Chr1(GRCh37):g.146436752A>G 2892-6941 2892-6941 NM_001278141.1:c.2892-6941A>G p.? p.? 27 26 608607 -6941 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.52 0 transition A G A>G 0.236 0.125 244 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon45:c.A5382G:p.Q1794Q . NBPF20:NM_001278267:exon113:c.A12642G:p.Q4214Q . . 0.28787878 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.2710 -0.206 -0.271 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF20 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0000000000000001E-244 0.996 0.391 . . . . 0.242 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146436772 G A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146436772 146436772 Chr1(GRCh37):g.146436772G>A 2892-6921 2892-6921 NM_001278141.1:c.2892-6921G>A p.? p.? 27 26 608607 -6921 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.52 0 transition G A G>A 0.169 0.125 175 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon45:c.G5402A:p.G1801D . NBPF20:NM_001278267:exon113:c.G12662A:p.G4221D . . 0.103896104 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 77.0 . . . . . . . . . . -0.8627 -1.084 -0.863 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF 0.56 . . . . . . . . . . . . . . . ENST00000442909 . . . 0.690000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.149 0.149000 . . 0.690000 . . 1.0E-175 0.998 0.411 . . . . 0.241 . . 0.149 . . . . . . 1 1538 10 1/0 0,238,255 +. 1 146443713 C A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146443713 146443713 Chr1(GRCh37):g.146443713C>A 2912 2912 NM_001278141.1:c.2912C>A p.Ala971Asp p.Ala971Asp 27 608607 21 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.04 0 transversion C A C>A 0.000 -1.409 A Ala GCT 0.263 D Asp GAT 0.461 971 11 2 Dolphin -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Tolerated 0.47 IV.32 255 PASS . . . . . . . . . . . . LOC100288142:uc021ott.2:exon116:c.C12974A:p.A4325D NBPF20:NM_001278267:exon116:c.C12980A:p.A4327D . . 0.71794873 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.017 . . 39.0 . . . . . . . . . . -1.6010 -1.711 -1.601 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.117 @ . . . . . . ENSG00000186275 LOC100288142 NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.004 . . 0.387 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.035 . 0.150 . HET 1 . . . . . . . . . . . . . 2.1428 . . I.27 -0.397 . 0.360000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.936 -1.936000 . . 0.360000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.047 . 0.003 -1.936 -2.227 . . . . . 1 1538 10 1/0 0,255,255 +. 1 146443744 A C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution synonymous exon GRCh37 146443744 146443744 Chr1(GRCh37):g.146443744A>C 2943 2943 NM_001278141.1:c.2943A>C p.Ser981= p.Ser981Ser 27 608607 52 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.83 0 Cryptic Acceptor Strongly Activated 146443753 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.000 -0.037 S Ser TCA 0.148 S Ser TCC 0.220 981 187 PASS . . . . . . . . . . . . LOC100288142:uc021ott.2:exon116:c.A13005C:p.S4335S NBPF20:NM_001278267:exon116:c.A13011C:p.S4337S . . 0.12962963 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.3277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 LOC100288142 NBPF20 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146443820 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146443820 146443820 Chr1(GRCh37):g.146443820T>C 3019 3019 NM_001278141.1:c.3019T>C p.Tyr1007His p.Tyr1007His 27 608607 -46 5' 74.2807 8.34018 0.667515 4.75703 74.2807 8.34018 0.667515 5.29597 0 transition T C T>C 0.000 0.770 Y Tyr TAC 0.562 H His CAC 0.587 1007 11 3 Western lowland gorilla 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Deleterious 0.02 IV.32 255 PASS . . . . . . . . . . . . LOC100288142:uc021ott.2:exon116:c.T13081C:p.Y4361H NBPF20:NM_001278267:exon116:c.T13087C:p.Y4363H . . 0.3253012 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 83.0 . . . . . . . . . . -0.6283 -0.869 -0.628 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.187 @ . . . . . . ENSG00000186275 LOC100288142 NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.104 . . . HET 0.05 . . . . . . . . . . . . . IV.37 . . 0.963 0.963 . 0.070000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.464 0.464000 . . 0.070000 . . 1.0E-255 0.003 0.159 . 0.238 . . 0.305 . 0.173 0.464 . . . . . . 1 1538 10 1/0 0,254,255 +. 1 146448394 C A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146448394 146448394 Chr1(GRCh37):g.146448394C>A 3290-2471 3290-2471 NM_001278141.1:c.3290-2471C>A p.? p.? 30 29 608607 -2471 3' 83.2605 8.73937 0.14414 2.80968 83.2605 8.73937 0.14414 2.80968 0 transversion C A C>A 0.000 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.6111111 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 18.0 . . . . . . . . . . -1.4502 -1.702 -1.450 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.085 @ . . . 0.29 0.15 182 ENSG00000186275 . . . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . 0.692 -1.38 . 0.360000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.240 -2.240000 . . 0.360000 . . 1.0E-255 0.010 0.182 . 0.083 . . 0.295 . 0.271 -2.240 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146448425 A C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146448425 146448425 Chr1(GRCh37):g.146448425A>C 3290-2440 3290-2440 NM_001278141.1:c.3290-2440A>C p.? p.? 30 29 608607 -2440 3' 83.2605 8.73937 0.14414 2.80968 83.2605 8.73937 0.14414 2.80968 0 Cryptic Acceptor Strongly Activated 146448434 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.004 0.609 255 PASS . . . . . . . . . . . . . . . . 0.41379312 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.0063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146448501 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146448501 146448501 Chr1(GRCh37):g.146448501T>C 3290-2364 3290-2364 NM_001278141.1:c.3290-2364T>C p.? p.? 30 29 608607 -2364 3' 83.2605 8.73937 0.14414 2.80968 83.2605 8.73937 0.14414 2.80968 0 transition T C T>C 0.000 -0.279 252 PASS . . . . . . . . . . . . . . . . 0.31707317 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 41.0 . . . . . . . . . . -1.0124 -1.255 -1.012 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.085 @ . . . 0.21 0.21 182 ENSG00000186275 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . . . . 0.692 -1.38 . 0.100000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.301 -0.301000 . . 0.100000 . . 1.0000000000000001E-252 0.000 0.063 . 0.043 . . 0.066 . 0.016 -0.301 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146453967 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146453967 146453967 Chr1(GRCh37):g.146453967T>C 3623+1425 3623+1425 NM_001278141.1:c.3623+1425T>C p.? p.? 32 32 608607 1425 5' 87.304 VIII.64 0.955794 2.33845 87.304 VIII.64 0.955794 2.33845 0 transition T C T>C 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.6035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.26 182 ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146454036 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146454036 146454036 Chr1(GRCh37):g.146454036A>G 3623+1494 3623+1494 NM_001278141.1:c.3623+1494A>G p.? p.? 32 32 608607 1494 5' 87.304 VIII.64 0.955794 2.33845 87.304 VIII.64 0.955794 2.33845 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6167 Genomes transition A G A>G 0.130 0.125 235 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon67:c.A7971G:p.Q2657Q . . . . 0.26153848 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.3408 -0.213 -0.341 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . 0.246 . . . . . . . . 1.0E-235 0.994 0.380 . 0.062 . . 0.243 . 0.271 . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146457918 C A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146457918 146457918 Chr1(GRCh37):g.146457918C>A 3644 3644 NM_001278141.1:c.3644C>A p.Ala1215Asp p.Ala1215Asp 33 608607 21 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.04 0 transversion C A C>A 0.000 -2.054 A Ala GCT 0.263 D Asp GAT 0.461 1215 11 1 -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.036 . . 30.0 . . . . . . . . . . -1.5614 -1.808 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.093 @ . . . . . . ENSG00000186275 . NBPF10 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.009 . . 0.464 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.182 . HET 0.3 . . . . . . . . . . . . . . . . 0.557 -1.11 . 0.340000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.201 -2.201000 . . 0.340000 . . 1.0E-255 0.013 0.187 . 0.138 . . 0.126 . 0.272 -2.201 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146457949 A C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution synonymous exon GRCh37 146457949 146457949 Chr1(GRCh37):g.146457949A>C 3675 3675 NM_001278141.1:c.3675A>C p.Ser1225= p.Ser1225Ser 33 608607 52 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.83 0 Cryptic Acceptor Strongly Activated 146457958 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.000 -0.279 S Ser TCA 0.148 S Ser TCC 0.220 1225 191 PASS . . . . . . . . . . . . . . . . 0.13953489 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2456 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF10 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146458025 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146458025 146458025 Chr1(GRCh37):g.146458025T>C 3751 3751 NM_001278141.1:c.3751T>C p.Tyr1251His p.Tyr1251His 33 608607 -46 5' 74.2807 8.34018 0.667515 4.75703 74.2807 8.34018 0.667515 5.29597 0 transition T C T>C 0.000 0.609 Y Tyr TAC 0.562 H His CAC 0.587 1251 11 1 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Not scored 0.0 0.0 242 PASS . . . . . . . . . . . . . . . . 0.28333333 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.330 . @ . . . . . 1 0.074 . . 60.0 . . . . . . . . . . -0.6937 -0.920 -0.694 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.171 @ . . . 0.39 0.35 182 ENSG00000186275 . NBPF10 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.025 . . 0.465 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.195 . HET 0 . . . . . . . ID\x3dCOSM1320027\x3bOCCURENCE\x3d1(ovary) . . . . . . . . 0.692 0.692 . 0.280000 . . . . . . 0.032 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.572 0.572000 . . 0.280000 . . 1.0E-242 0.003 0.159 . 0.062 . . 0.259 . 0.274 0.572 . . . . . . 1 1538 10 1/0 0,255,255 +rs190121874 1 146462678 C A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146462678 146462678 Chr1(GRCh37):g.146462678C>A 4130+2185 4130+2185 NM_001278141.1:c.4130+2185C>A p.? p.? 36 36 608607 2185 5' 87.304 VIII.64 0.955794 3.97612 87.304 VIII.64 0.955794 3.97612 0 rs190121874 yes no Frequency 1 0.000000 0 transversion C A C>A 0.000 -2.377 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.008 . . 27.0 . . . . . . . . . . -1.6183 -1.852 -1.618 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.083 @ . . . 0.31 0.32 182 ENSG00000186275 . . . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . 0.005 . . 0.406 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.026 . 0.169 . HET 0.68 . . . . . . . . . . . . . 1.665 . . 0.725 -1.45 . 0.840000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.514 -2.514000 . . 0.840000 . . 1.0E-255 0.898 0.311 . 0.157 . . 0.039 . 0.007 -2.514 . . . . rs190121874 rs190121874 1 1538 10 1/0 0,255,255 +. 1 146462709 A C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146462709 146462709 Chr1(GRCh37):g.146462709A>C 4130+2216 4130+2216 NM_001278141.1:c.4130+2216A>C p.? p.? 36 36 608607 2216 5' 87.304 VIII.64 0.955794 3.97612 87.304 VIII.64 0.955794 3.97612 0 Cryptic Acceptor Strongly Activated 146462718 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.063 0.609 195 PASS . . . . . . . . . . . . . . . . 0.14893617 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 47.0 . . . . . . . . . . 0.0011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs113947871 1 146462785 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146462785 146462785 Chr1(GRCh37):g.146462785T>C 4130+2292 4130+2292 NM_001278141.1:c.4130+2292T>C p.? p.? 36 36 608607 2292 5' 87.304 VIII.64 0.955794 3.97612 87.304 VIII.64 0.955794 3.97612 0 rs113947871 no no 0 0.000000 0 transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.37704918 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 61.0 . . . . . . . . . . -0.6601 -0.897 -0.660 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.165 @ . . . 0.28 0.32 182 ENSG00000186275 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.04 . . . . . . . ID\x3dCOSM116473\x3bOCCURENCE\x3d1(ovary) . . . . . . . . 0.583 0.583 . 0.100000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.487 0.487000 . . 0.100000 . . 1.0E-255 0.003 0.159 . 0.043 . . 0.305 . 0.273 0.487 . . rs4098124 rs4098124 rs201428580 rs201428580 1 1538 10 1/0 0,255,255 +rs113829174 1 146465973 C G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146465973 146465973 Chr1(GRCh37):g.146465973C>G 4226 4226 NM_001278141.1:c.4226C>G p.Pro1409Arg p.Pro1409Arg 37 608607 96 3' 92.7607 9.45065 0.981006 13.5207 92.7607 9.45065 0.981006 13.5207 0 New Donor Site 146465972 0.66372 0.073982 65.5026 rs113829174 yes no Frequency 1 0.000000 0 0.000778 0.002358 0.000492 0.000000 0.000125 0.000000 0.000298 0.003920 0.001774 0.003920 185 40 12 0 2 0 34 87 10 237918 16960 24404 9114 15996 29402 114210 22196 5636 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 185 40 12 0 2 0 34 87 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.008 0.609 P Pro CCT 0.283 R Arg CGT 0.082 1409 11 2 Western lowland gorilla -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0 IV.32 186 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon82:c.C9848G:p.P3283R . . . . 0.12698413 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.070 . @ . . . . . 1 0.214 . . 63.0 . . . . . . . . . . -0.6760 -0.918 -0.676 c . . . . . 8.314e-06 . . . . . . . . . . . 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.166 @ . . . 0.36 0.79 182 ENSG00000186275 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.053 . . 0.337 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.278 . LowAF 0.11 . . . . . . . . . . . . . . . ENST00000442909 0.59 0.59 . 0.050000 . . . . . . 0.053 . . . 0 4.583e-06 4.17e-05 0 0 0 0 0 0 0.0085 0.0093 0.0258 0 0.0021 0.0429 0.0032 0.0153 . . 0.558 . 0.597 0.597000 . . 0.050000 . . 1.0E-186 0.000 0.063 . 0.016 0.005 . 0.151 . 0.054 0.597 0.356 . . . rs113829174 rs113829174 1 1538 10 1/0 0,248,255 +. (chr1:147563954 C/A) 1 147563954 C A Not on a known gene +. (chr1:147563989 G/A) 1 147563989 G A Not on a known gene +. 1 147575992 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution 3'UTR GRCh37 147575992 147575992 Chr1(GRCh37):g.147575992C>G *181 *181 NM_183372.5:c.*181G>C p.? p.? 24 614001 198 3' 92.7607 9.45065 0.979274 13.2638 92.7607 9.45065 0.979274 13.2638 0 transversion G C G>C 0.000 -2.700 111 PASS . . . . . . . . . . . . . NBPF8:NM_001037501:exon20:c.G2783C:p.R928T . . 1.0 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.007 . . 22.0 . . . . . . . . . . -1.8440 -2.062 -1.844 c . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . UTR3 exonic exonic . . 0.118 @ . . . 0.7 0.8 182 ENSG00000203836 NBPF8 NBPF8 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.017 . . 0.307 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . ENST00000369227 0.195 -0.39 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.042 . -2.725 -2.725000 . . 1.000000 . . 1.0E-111 0.000 0.063 . 0.016 0.049 . 0.003 . 0.002 -2.725 -2.395 . rs7415277 rs7415277 rs7415277 rs7415277 1 1538 255 1.I 0,0,255 +. 1 147576075 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution 3'UTR GRCh37 147576075 147576075 Chr1(GRCh37):g.147576075G>C *98 *98 NM_183372.5:c.*98C>G p.? p.? 24 614001 115 3' 92.7607 9.45065 0.979274 13.2638 92.7607 9.45065 0.979274 13.2638 0 transversion C G C>G 0.024 0.205 111 PASS . . . . . . . . . . . . . NBPF8:NM_001037501:exon20:c.C2700G:p.Y900X . . 1.0 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 0 0.030 . . 45.0 . . . . . . . . . . -0.9501 -1.171 -0.950 c . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . UTR3 exonic exonic . . 0.139 @ . . . . . . ENSG00000203836 NBPF8 NBPF8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . ENST00000369227 0.118 0.118 . 1.000000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.042 . 0.191 0.191000 . . 1.000000 . . 1.0E-111 0.001 0.137 . 0.074 0.193 . 0.097 . 0.269 0.191 0.060 . . . . . 1 1538 255 1.I 0,0,255 +. 1 147577614 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147577614 147577614 Chr1(GRCh37):g.147577614C>G 2634+29 2634+29 NM_183372.5:c.2634+29G>C p.? p.? 22 22 614001 29 5' 92.583 10.0326 0.99302 6.30796 92.583 10.0326 0.99302 6.02184 0 transversion G C G>C 0.075 0.205 255 PASS . . . . . . . . . . . . . . . . 0.61904764 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.2892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.12 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61807284 rs61807284 . . 1 1538 10 1/0 0,255,255 +. 1 147579272 A G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147579272 147579272 Chr1(GRCh37):g.147579272A>G 2368 2368 NM_183372.5:c.2368T>C p.Tyr790His p.Tyr790His 20 614001 -46 5' 74.2807 8.34018 0.667515 4.75703 74.2807 8.34018 0.667515 5.29597 0 COSM6361690 Thyroid 0.001339 747 transition T C T>C 0.008 0.125 Y Tyr TAC 0.562 H His CAC 0.587 790 11 2 Western lowland gorilla 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Deleterious 0.04 III.41 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.041 . . 65.0 . . . . . . . . . . -0.5967 -0.902 -0.597 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.135 @ . . . 0.56 0.71 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.104 . . 0.116 . . . 0.767 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.715 . . 0.710 . . . . . . 3 . . . . . . . . 0.287 . HET 0.06 . . . . . . . . . . . . . . . . 0.0465 0.0465 . 0.060000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.115 0.115000 . . 0.060000 . . 1.0E-255 0.000 0.063 . 0.062 0.005 . 0.186 . 0.275 0.115 0.649 . . . . . 1 1538 10 1/0 0,255,255 +. 1 147579348 T G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147579348 147579348 Chr1(GRCh37):g.147579348T>G 2292 2292 NM_183372.5:c.2292A>C p.Ser764= p.Ser764Ser 20 614001 52 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.83 0 Cryptic Acceptor Strongly Activated 147579339 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.354 0.125 S Ser TCA 0.148 S Ser TCC 0.220 764 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . 0.0358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 147579379 G T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147579379 147579379 Chr1(GRCh37):g.147579379G>T 2261 2261 NM_183372.5:c.2261C>A p.Ala754Asp p.Ala754Asp 20 614001 21 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.04 0 transversion C A C>A 0.039 -1.651 A Ala GCT 0.263 D Asp GAT 0.461 754 11 3 Dolphin -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Tolerated 0.54 III.33 255 PASS . . . . . . . . . . . . . . . . 0.7037037 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.082 . @ . . . . . 1 0.013 . . 27.0 . . . . . . . . . . -1.9170 -1.945 -1.917 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.032 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.005 . . 0.407 . . . 0.001 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.202 . . 0.281 . . . . . . 3 . . . . . . . . 0.283 . HET 0.48 . . . . . . . . . . . . . . . . 0.0465 0.0465 . 0.350000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.587 -1.587000 . . 0.350000 . . 1.0E-255 0.000 0.063 . 0.016 0.061 . 0.100 . 0.054 -1.587 -2.237 . . . . . 1 1538 10 1/0 0,255,255 +. 1 147582518 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147582518 147582518 Chr1(GRCh37):g.147582518C>T 1963+147 1963+147 NM_183372.5:c.1963+147G>A p.? p.? 16 16 614001 147 5' 71.5327 7.394 0.757364 5.01251 71.5327 7.394 0.757364 5.01251 0 New Acceptor Site 147582516 3.26945 0.317307 75.4569 transition G A G>A 0.051 0.286 255 PASS . . . . . . . . . . . . . . . . 0.5833333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . -0.3488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.27 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs12049079 rs12049079 rs12049079 rs12049079 1 1538 10 1/0 0,255,255 +. 1 147582598 C A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147582598 147582598 Chr1(GRCh37):g.147582598C>A 1963+67 1963+67 NM_183372.5:c.1963+67G>T p.? p.? 16 16 614001 67 5' 71.5327 7.394 0.757364 5.01251 71.5327 7.394 0.757364 4.66641 0 transversion G T G>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.5404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.3 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9437889 rs9437889 rs9437889 rs9437889 1 1538 10 1/0 0,255,255 +. 1 147582731 G T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147582731 147582731 Chr1(GRCh37):g.147582731G>T 1897 1897 NM_183372.5:c.1897C>A p.Gln633Lys p.Gln633Lys 16 614001 -67 5' 71.5327 7.394 0.757364 5.01251 71.5327 7.394 0.757364 5.16861 0 COSM5427814 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 0.000 -0.844 Q Gln CAG 0.744 K Lys AAG 0.575 633 11 2 Western lowland gorilla 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 0.74 III.33 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.005 . . 42.0 . . . . . . . . . . -1.3682 -1.545 -1.368 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.118 @ . . . 0.52 0.18 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.034 . . 0.424 . . . 0.717 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.192 . . 0.203 . . . . . . 4 . . . . . . . . 0.340 . LowAF 0.25 . . . . . . . . . . . . . . . . 0.195 -0.39 . 0.130000 Q5RGN0 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.846 -0.846000 . . 0.130000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.041 . 0.141 . 0.049 -0.846 0.562 . rs9437892 rs9437892 rs9437892 rs9437892 1 1538 10 1.I 0,0,0 +. 1 147582745 C A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147582745 147582745 Chr1(GRCh37):g.147582745C>A 1883 1883 NM_183372.5:c.1883G>T p.Arg628Met p.Arg628Met 16 614001 -81 5' 71.5327 7.394 0.757364 5.01251 71.5327 7.394 0.757364 5.01251 0 Cryptic Acceptor Strongly Activated 147582728 0.367903 0.001394 71.6572 1.73786 0.002787 71.6572 transversion G T G>T 0.000 -1.974 R Arg AGG 0.207 M Met ATG 1.000 628 11 1 -1 -1 -3 0.65 0 10.V 5.VII 124 105 91 C0 353.86 0.00 Tolerated 0.3 III.33 203 PASS . . . . . . . . . . . . . . . . 0.17073171 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.017 . . 41.0 . . . . . . . . . . -2.0707 -2.130 -2.071 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.118 @ . . . 0.52 0.25 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.005 . . 0.433 . . . 0.005 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.112 . . 0.112 . . . . . . 3 . . . . . . . . 0.375 . HET 0.47 . . . . . . . . . . . . . . . ENST00000369226 0.195 -0.39 . 0.370000 Q5RGN0 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.982 -1.982000 . . 0.370000 . . 1.0E-203 0.000 0.063 . 0.016 0.004 . 0.003 . 0.000 -1.982 -2.186 . rs28734780 rs28734780 rs4028600 rs4028600 1 1538 10 1/0 0,255,255 +. 1 147582876 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147582876 147582876 Chr1(GRCh37):g.147582876C>G 1800-48 1800-48 NM_183372.5:c.1800-48G>C p.? p.? 16 15 614001 -48 3' 76.7699 7.52764 0.562481 3.70641 76.7699 7.52764 0.562481 3.68574 0 transversion G C G>C 0.016 -0.682 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.5910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.66 0.25 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs9438334 . . . 1 1538 10 1/0 0,255,255 +. 1 147588714 T C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147588714 147588714 Chr1(GRCh37):g.147588714T>C 1541+32 1541+32 NM_183372.5:c.1541+32A>G p.? p.? 13 13 614001 32 5' 81.9751 8.87834 0.96301 0 81.9751 8.87834 0.96301 0 0 transition A G A>G 0.004 -0.763 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +. 1 147588753 A C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147588753 147588753 Chr1(GRCh37):g.147588753A>C 1534 1534 NM_183372.5:c.1534T>G p.Ser512Ala p.Ser512Ala 13 614001 -8 5' 81.9751 8.87834 0.96301 0 81.9751 8.87834 0.96301 0 0 transversion T G T>G 0.004 -0.682 S Ser TCC 0.220 A Ala GCC 0.403 512 11 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.85 III.76 255 PASS . . . . . . . . . . . . . . . . 0.3814433 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.017 . . 97.0 . . . . . . . . . . -1.9613 -1.930 -1.961 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.144 @ . . . 0.49 0.27 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.002 . . 0.371 . . . 0.005 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.151 . . 0.166 . . . . . . 3 . . . . . . . . 0.232 . HET 1 . . . . . . . . . . . . . . . . 0.195 0.195 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.681 -0.681000 . . 1.000000 . . 1.0E-255 0.007 0.175 . 0.104 0.124 . 0.054 . 0.035 -0.681 -2.431 . rs9970097 rs9970097 rs9970097 rs9970097 1 1538 10 1/0 0,252,255 +. 1 147588895 G A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147588895 147588895 Chr1(GRCh37):g.147588895G>A 1469-77 1469-77 NM_183372.5:c.1469-77C>T p.? p.? 13 12 614001 -77 3' 91.8347 5.70008 0.850282 7.03708 91.8347 5.70008 0.850282 6.80492 0 transition C T C>T 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.40677965 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.6645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.71 0.3 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9331715 rs9331715 rs9331715 rs9331715 1 1538 10 1/0 0,255,255 +. 1 147590027 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147590027 147590027 Chr1(GRCh37):g.147590027G>C 1296 1296 NM_183372.5:c.1296C>G p.Thr432= p.Thr432Thr 12 614001 43 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.97819 0 transversion C G C>G 0.012 0.205 T Thr ACC 0.361 T Thr ACG 0.116 432 184 PASS . . . . . . . . . . . . . . . . 0.12280702 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 57.0 . . . . . . . . . . -0.3894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 1 147590120 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147590120 147590120 Chr1(GRCh37):g.147590120C>T 1254-51 1254-51 NM_183372.5:c.1254-51G>A p.? p.? 12 11 614001 -51 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.52572 0 New Acceptor Site 147590118 5.84301 0.012964 72.9985 transition G A G>A 0.004 0.125 213 PASS . . . . . . . . . . . . . . . . 0.19607843 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.13 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs112459449 rs112459449 1 1538 10 1/0 0,255,255 +. 1 147590905 G A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147590905 147590905 Chr1(GRCh37):g.147590905G>A 1251 1251 NM_183372.5:c.1251C>T p.Leu417= p.Leu417Leu 11 614001 -3 5' 90.6189 10.0684 0.964038 6.80992 86.4908 7.64824 0.94689 3.62674 -0.101237 COSM5427869|COSM5427869 Large intestine|Haematopoietic and lymphoid tissue 0.000450|0.000283 2220|3530 transition C T C>T 0.031 -1.167 L Leu CTC 0.197 L Leu CTT 0.129 417 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 36.0 . . . . . . . . . . -0.6523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.25 182 ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . rs78261742 rs78261742 1 1538 10 1/0 0,255,255 +. 1 147590923 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147590923 147590923 Chr1(GRCh37):g.147590923C>G 1233 1233 NM_183372.5:c.1233G>C p.Leu411= p.Leu411Leu 11 614001 -21 5' 90.6189 10.0684 0.964038 6.80992 90.6189 10.0684 0.964038 VI.95 0 COSM5427881|COSM5427881 Liver|Haematopoietic and lymphoid tissue 0.002109|0.000283 2371|3530 transversion G C G>C 0.012 -1.086 L Leu CTG 0.404 L Leu CTC 0.197 411 255 PASS . . . . . . . . . . . . . . . . 0.32692307 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 52.0 . . . . . . . . . . -0.7552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74946467 rs74946467 1 1538 10 1/0 0,255,255 +. 1 147590939 T A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147590939 147590939 Chr1(GRCh37):g.147590939T>A 1217 1217 NM_183372.5:c.1217A>T p.Lys406Met p.Lys406Met 11 614001 -37 5' 90.6189 10.0684 0.964038 6.80992 90.6189 10.0684 0.964038 7.10384 0 COSM5427878 Haematopoietic and lymphoid tissue 0.000567 3530 transversion A T A>T 0.016 0.125 K Lys AAG 0.575 M Met ATG 1.000 406 11 2 Western lowland gorilla -1 -1 -3 0.33 0 11.III 5.VII 119 105 95 C0 353.86 0.00 Deleterious 0 IV.32 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.415 . @ . . . . . 1 0.028 . . 51.0 . . . . . . . . . . -0.5619 -0.863 -0.562 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.139 @ . . . 0.22 0.06 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.059 . . 0.281 . . . 0.526 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.715 . . 0.717 . . . . . . 3 . . . . . . . . 0.377 . HET 0 . . . . . . . . . . . . . . . . 0.118 0.118 . 0.000000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.165 0.165000 . . 0.000000 . . 1.0000000000000001E-233 0.000 0.063 . 0.130 0.118 . 0.092 . 0.255 0.165 0.062 . . . rs78782146 rs78782146 1 1538 10 1/0 0,255,255 +. 1 147591037 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147591037 147591037 Chr1(GRCh37):g.147591037G>C 1151-32 1151-32 NM_183372.5:c.1151-32C>G p.? p.? 11 10 614001 -32 3' 88.016 9.98334 0.911411 IV.24 88.016 9.98334 0.911411 4.20999 0 transversion C G C>G 0.248 0.205 227 PASS . . . . . . . . . . . . . . . . 0.23529412 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.1481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.04 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs78508199 rs78508199 1 1538 10 1/0 0,255,255 +. 1 147591065 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147591065 147591065 Chr1(GRCh37):g.147591065G>C 1151-60 1151-60 NM_183372.5:c.1151-60C>G p.? p.? 11 10 614001 -60 3' 88.016 9.98334 0.911411 IV.24 88.016 9.98334 0.911411 4.57244 0 transversion C G C>G 0.114 0.205 225 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.05 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs74332505 rs74332505 1 1538 10 1/0 0,255,255 +. 1 147591074 G A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147591074 147591074 Chr1(GRCh37):g.147591074G>A 1151-69 1151-69 NM_183372.5:c.1151-69C>T p.? p.? 11 10 614001 -69 3' 88.016 9.98334 0.911411 IV.24 88.016 9.98334 0.911411 4.46753 0 transition C T C>T 0.055 0.205 228 PASS . . . . . . . . . . . . . . . . 0.24242425 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.05 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . rs74626779 rs74626779 1 1538 10 1/0 0,255,255 +. 1 147596221 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147596221 147596221 Chr1(GRCh37):g.147596221C>T 570 570 NM_183372.5:c.570G>A p.Pro190= p.Pro190Pro 7 614001 -86 5' 94.9812 11.083 0.995156 8.63384 94.9812 11.083 0.995156 8.63384 0 COSM5428184 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.331 0.125 P Pro CCG 0.115 P Pro CCA 0.274 190 242 PASS . . . . . . . . . . . . . . . . 0.28125 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . -0.2179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.09 182 ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs28480670 rs28480670 rs28480670 rs28480670 1 1538 10 1/0 0,255,255 +. 1 147596256 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147596256 147596256 Chr1(GRCh37):g.147596256C>G 535 535 NM_183372.5:c.535G>C p.Glu179Gln p.Glu179Gln 7 614001 95 3' 76.3466 9.44659 0.835517 6.34786 76.3466 9.44659 0.835517 6.34786 0 Cryptic Acceptor Strongly Activated 147596253 57.4877 4.24294 0.000141 68.3097 transversion G C G>C 0.098 -1.974 E Glu GAG 0.583 Q Gln CAG 0.744 179 11 2 Dog 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Tolerated 1 III.33 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.006 . . 64.0 . . . . . . . . . . -2.1580 -2.154 -2.158 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.18 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.102 0.004 . . 37 . 0.020 . . 0.137 . . . 0.004 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.245 . . 0.227 . . . . . . 3 . . . . . . . . 0.227 . HET 1 . . . . . . . . . . . . . . . . . . . 0.780000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -2.055 -2.055000 . . 0.780000 . . 1.0E-232 0.004 0.165 . 0.173 0.009 . 0.130 . 0.012 -2.055 -0.677 . rs28566856 rs28566856 rs28566856 rs28566856 1 1538 10 1/0 0,255,255 +. 1 147596300 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147596300 147596300 Chr1(GRCh37):g.147596300C>T 491 491 NM_183372.5:c.491G>A p.Arg164Lys p.Arg164Lys 7 614001 51 3' 76.3466 9.44659 0.835517 6.34786 76.3466 9.44659 0.835517 6.1015 0 transition G A G>A 0.047 0.125 R Arg AGG 0.207 K Lys AAG 0.575 164 11 5 Cow 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Tolerated 0.26 III.33 205 PASS . . . . . . . . . . . . . . . . 0.17307693 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.026 . . 52.0 . . . . . . . . . . -0.8623 -1.081 -0.862 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.274 . . 0.216 . . . 0.409 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.386 . . 0.415 . . . . . . 3 . . . . . . . . 0.266 . HET 0.07 . . . . . . . . . . . . . . . . . . . 0.090000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.107 0.107000 . . 0.090000 . . 1.0E-205 0.001 0.137 . 0.190 0.138 . 0.200 . 0.246 0.107 0.537 . . . . . 1 1538 10 1/0 0,255,255 +. 1 147596308 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147596308 147596308 Chr1(GRCh37):g.147596308G>C 483 483 NM_183372.5:c.483C>G p.Thr161= p.Thr161Thr 7 614001 43 3' 76.3466 9.44659 0.835517 6.34786 76.3466 9.44659 0.835517 6.89955 0 transversion C G C>G 0.031 0.125 T Thr ACC 0.361 T Thr ACG 0.116 161 196 PASS . . . . . . . . . . . . . . . . 0.1521739 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 46.0 . . . . . . . . . . -0.3726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs782423228 1 147597166 T A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147597166 147597166 Chr1(GRCh37):g.147597166T>A 440+16 440+16 NM_183372.5:c.440+16A>T p.? p.? 6 6 614001 16 5' 90.6189 10.0684 0.964038 IV.89 90.6189 10.0684 0.964038 5.01143 0 rs782423228 yes no Frequency 1 T 0.000000 0 0.000566 0.001851 0.000147 0.000000 0.000167 0.000000 0.000495 0.002067 0.000835 0.002067 144 35 5 0 3 0 59 37 5 254566 18908 33922 9950 17956 30712 119228 17904 5986 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144 35 5 0 3 0 59 37 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.008 -0.037 187 PASS . . . . . . . . . . . . . . . . 0.12790698 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.4368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.24 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 5.992e-05 0 5.868e-05 0.0020 0 0 0 0.0074 0.0055 0.0055 0 0.0022 0.0023 0.0057 0.0078 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs3871929 rs3871929 1 1538 10 1/0 0,235,255 +. 1 147599165 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147599165 147599165 Chr1(GRCh37):g.147599165C>T 284 284 NM_183372.5:c.284G>A p.Arg95Lys p.Arg95Lys 5 614001 -54 5' 73.3142 5.95993 0.947281 0.710038 73.3142 5.95993 0.947281 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22156 378 2170 770 2 1442 16210 666 518 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 61 Exomes transition G A G>A 0.000 -1.247 R Arg AGA 0.205 K Lys AAA 0.425 95 11 1 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Tolerated 1 III.34 219 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.027 . . 23.0 . . . . . . . . . . -1.6688 -1.780 -1.669 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.139 @ . . . 0.52 0.46 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.066 0.003 . . 37 . 0.003 . . 0.420 . . . 0.002 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 3 . . . . . . . . 0.314 . HET 1 . . . . . . . . . . . . . . 0.012397 ENST00000369228 0.11 0.11 . 1.000000 . . . . . . 0.001 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.558 . -1.336 -1.336000 . . 1.000000 . . 1.0E-219 0.001 0.137 . 0.016 0.289 . 0.080 . 0.009 -1.336 -0.281 . rs6675526 rs6675526 rs6675526 rs6675526 1 1538 10 1/0 0,255,255 +. 1 147599205 A G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147599205 147599205 Chr1(GRCh37):g.147599205A>G 244 244 NM_183372.5:c.244T>C p.Leu82= p.Leu82Leu 5 614001 -94 5' 73.3142 5.95993 0.947281 0.710038 73.3142 5.95993 0.947281 0.710038 0 transition T C T>C 0.031 -1.086 L Leu TTG 0.127 L Leu CTG 0.404 82 244 PASS . . . . . . . . . . . . . . . . 0.29268292 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.6151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.51 182 ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs6680516 rs6680516 rs6680516 rs6680516 1 1538 10 1/0 0,255,255 +. 1 147621501 A G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147621501 147621501 Chr1(GRCh37):g.147621501A>G 2111 2111 NM_183372.5:c.-387+2498T>C p.? p.? 1 1 614001 2498 5' 92.583 10.0326 0.991191 8.68038 92.583 10.0326 0.991191 8.68038 0 Cryptic Donor Strongly Activated 147621500 4.90179 0.106285 70.9607 6.82506 0.37787 70.5575 transition T C T>C 1.000 1.658 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.0176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.52 0.36 182 ENSG00000203835 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs61805954 rs61805954 rs9437935 rs9437935 1 1538 255 1.I 0,0,255 +. 1 147621670 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147621670 147621670 Chr1(GRCh37):g.147621670G>C 1942 1942 NM_183372.5:c.-387+2329C>G p.? p.? 1 1 614001 2329 5' 92.583 10.0326 0.991191 8.68038 92.583 10.0326 0.991191 8.68038 0 transversion C G C>G 1.000 1.416 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.0559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.6 0.31 182 ENSG00000203835 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs9437936 rs9437936 rs9437936 rs9437936 1 1538 255 1.I 0,0,255 +. 1 148005625 C G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148005625 148005625 Chr1(GRCh37):g.148005625C>G 2414-114 2414-114 NM_015383.1:c.2414-114G>C p.? p.? 21 20 614003 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.004 -2.216 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . -0.8770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148007014 T A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007014 148007014 Chr1(GRCh37):g.148007014T>A 2240+25 2240+25 NM_015383.1:c.2240+25A>T p.? p.? 19 19 614003 25 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.967377 3.57506 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7658 282 1652 84 1326 1094 2864 122 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 77 Exomes transversion A T A>T 0.024 0.286 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.0465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.43 0.22 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +. 1 148007143 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007143 148007143 Chr1(GRCh37):g.148007143A>G 2189-53 2189-53 NM_015383.1:c.2189-53T>C p.? p.? 19 18 614003 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 transition T C T>C 0.012 0.125 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.1265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.48 0.3 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148007483 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007483 148007483 Chr1(GRCh37):g.148007483A>G 2188+317 2188+317 NM_015383.1:c.2188+317T>C p.? p.? 18 18 614003 317 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.024 0.286 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.2409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148007519 C G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007519 148007519 Chr1(GRCh37):g.148007519C>G 2188+281 2188+281 NM_015383.1:c.2188+281G>C p.? p.? 18 18 614003 281 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 148007501 7.4e-05 71.6045 0.801323 0.0001 71.6045 rs201443873 no no 0 0.000000 0 transversion G C G>C 0.012 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.53846157 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 13.0 . . . . . . . . . . -0.8398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.51 0.26 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201443873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201443873 rs201443873 1 1538 10 1/0 0,255,255 +. 1 148007644 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007644 148007644 Chr1(GRCh37):g.148007644A>G 2188+156 2188+156 NM_015383.1:c.2188+156T>C p.? p.? 18 18 614003 156 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.6333333 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60.0 . . . . . . . . . . -0.6473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.51 0.29 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs5011765 rs5011765 . . 1 1538 10 1/0 0,255,255 +. 1 148007646 T G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007646 148007646 Chr1(GRCh37):g.148007646T>G 2188+154 2188+154 NM_015383.1:c.2188+154A>C p.? p.? 18 18 614003 154 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 148007637 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.5322581 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62.0 . . . . . . . . . . -0.5227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.51 0.32 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148007730 T G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007730 148007730 Chr1(GRCh37):g.148007730T>G 2188+70 2188+70 NM_015383.1:c.2188+70A>C p.? p.? 18 18 614003 70 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.43889 0 Cryptic Acceptor Strongly Activated 148007727 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 rs61810204 no no 0 0.000000 0 transversion A C A>C 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.5253456 . . . 114 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 217.0 . . . . . . . . . . -0.3196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61810204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,239 +. 1 148007845 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148007845 148007845 Chr1(GRCh37):g.148007845A>G 2143 2143 NM_015383.1:c.2143T>C p.Tyr715His p.Tyr715His 18 614003 -46 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.65652 0 DUF1220 COSM6424479 Thyroid 0.002677 747 transition T C T>C 0.000 0.448 Y Tyr TAC 0.562 H His CAC 0.587 715 14 5 Macaque 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 178 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon18:c.T2143C:p.Y715H . NBPF8:NM_001037501:exon16:c.T2206C:p.Y736H . . 0.1092437 . . . 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 119.0 . . . . . . . . . . -0.6014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.12 . . . . . . . . . . . . . . . . 0.503 0.503 . 0.180000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.467 0.467000 . . 0.180000 . . 1.0E-178 . . . . . . . . . 0.467 . . . . . . 1 1538 10 1/0 0,220,255 +. 1 148007855 G T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148007855 148007855 Chr1(GRCh37):g.148007855G>T 2133 2133 NM_015383.1:c.2133C>A p.Ser711Arg p.Ser711Arg 18 614003 -56 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 4.65498 0 DUF1220 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000118 0.000000 0.000000 0.000118 1 0 0 0 0 0 1 0 0 19682 856 3274 494 3270 2368 8446 362 612 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 58 Exomes COSM6374548 Thyroid 0.001339 747 transversion C A C>A 0.000 -2.135 S Ser AGC 0.243 R Arg AGA 0.205 711 14 2 Chimp -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Tolerated 0.71 III.36 good 9.754E-1 0.2829 255 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon18:c.C2133A:p.S711R . NBPF8:NM_001037501:exon16:c.C2196A:p.S732R . . 0.39 . . . 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 100.0 . . . . . . . . . . -2.1959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.61 . . . . . . . . . . . . . . . . 0.503 -1.01 . 1.000000 . . . . . . . . . . 0 5.081e-05 0 0 0 0 0.0001 0 0 . . . . . . . . . . . . -2.207 -2.207000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -2.207 . . rs4994032 rs4994032 . . 1 1538 10 1/0 0,255,255 +. 1 148007916 C T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148007916 148007916 Chr1(GRCh37):g.148007916C>T 2072 2072 NM_015383.1:c.2072G>A p.Gly691Asp p.Gly691Asp 18 614003 57 3' 92.4426 10.0294 0.96652 XII.31 92.4426 10.0294 0.96652 XII.04 0 DUF1220 0.000045 0.000000 0.000000 0.000000 0.000000 0.000392 0.000000 0.000000 0.000000 0.000392 1 0 0 0 0 1 0 0 0 22252 1020 3740 560 3752 2554 9554 380 692 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 61 Exomes transition G A G>A 0.000 -1.812 G Gly GGT 0.162 D Asp GAT 0.461 691 14 1 -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 251.59 0.00 Tolerated 1 III.36 good 7.674E-1 0.2771 111 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon18:c.G2072A:p.G691D . NBPF8:NM_001037501:exon16:c.G2135A:p.G712D . . 1.0 . . . 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 12.0 . . . . . . . . . . -1.6818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . 0.503 -1.01 . 1.000000 . . . . . . . . . . 0 4.494e-05 0 0 0 0 0 0 0.0004 . . . . . . . . . . . . -1.797 -1.797000 . . 1.000000 . . 1.0E-111 . . . . . . . . . -1.797 . . rs558823 rs558823 . . 1 1538 255 1.I 0,0,255 +. 1 148009371 G A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148009371 148009371 Chr1(GRCh37):g.148009371G>A 1936 1936 NM_015383.1:c.1936C>T p.Arg646Cys p.Arg646Cys 16 614003 -28 5' 86.8199 10.1256 0.988158 6.96807 86.8199 10.1256 0.988158 6.52279 0 Cryptic Donor Strongly Activated 148009373 53.8639 2.27157 0.013667 64.107 DUF1220 rs200683178 yes no Frequency/1000G 2 0.000000 0 0.047923 0.145200 0.016400 0.006900 0.009900 0.021600 0.000201 0.001851 0.000168 0.000000 0.000000 0.000000 0.000017 0.000718 0.000340 0.001851 49 23 5 0 0 0 2 17 2 243328 12424 29848 9298 17726 28268 116214 23668 5882 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000338 0.000340 5 0 0 0 0 0 0 4 1 39 23 5 0 0 0 2 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3801696|COSM3801696|COSM3801696 Upper aerodigestive tract|Thyroid|Breast 0.003197|0.001339|0.000408 1251|747|2453 transition C T C>T 0.000 -14.080 R Arg CGT 0.082 C Cys TGT 0.448 646 14 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.17 III.38 good 3.595E-1 0.5855 255 PASS . . . . . 0.15 0.048 0.022 0.0069 0.0099 0.016 ENSG00000122497:ENST00000369219:exon16:c.C1936T:p.R646C . . . . 0.5531915 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47.0 . . . . . . . . . . -0.4486 . . . . . . . . 1.288e-04 . . . 0 3.829e-05 0 0 0 2.591e-05 0 0.0001 0 3.221e-05 0 0.0001 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . 0.52 0.26 182 ENSG00000122497 . NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 rs200683178 . . . . . . . . . . . . . . . . . . 0.020000 Q5TI25 . . . . . . . . . 0 9.135e-06 6.868e-05 0 0 0 0 0 0 0.0052 0.0019 0.0041 0 0 0.0055 0.0001 0.0023 . . . . . . . . 0.020000 . . 1.0E-255 . . . . . . . . . . . . rs11554534 rs11554534 rs200683178 rs200683178 1 1538 10 1/0 0,255,255 +. 1 148009375 T C - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution synonymous exon GRCh37 148009375 148009375 Chr1(GRCh37):g.148009375T>C 1932 1932 NM_015383.1:c.1932A>G p.Gln644= p.Gln644Gln 16 614003 -32 5' 86.8199 10.1256 0.988158 6.96807 86.8199 10.1256 0.988158 6.97652 0 DUF1220 0.000012 0.000079 0.000000 0.000000 0.000000 0.000000 0.000009 0.000042 0.000000 0.000079 3 1 0 0 0 0 1 1 0 243950 12666 29884 9300 17762 28268 116402 23772 5896 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -14.080 Q Gln CAA 0.256 Q Gln CAG 0.744 644 255 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon16:c.A1932G:p.Q644Q . . . . 0.3488372 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000310701 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0002 0.0001 0 0 0 0.0003 7.309e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148009402 G A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution synonymous exon GRCh37 148009402 148009402 Chr1(GRCh37):g.148009402G>A 1905 1905 NM_015383.1:c.1905C>T p.Tyr635= p.Tyr635Tyr 16 614003 -59 5' 86.8199 10.1256 0.988158 6.96807 86.8199 10.1256 0.988158 6.33258 0 DUF1220 rs782401251 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000056 0.000035 0.000000 0.000042 0.000000 0.000056 3 0 0 0 1 1 0 1 0 244410 12712 29986 9304 17762 28280 116662 23798 5906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -14.080 Y Tyr TAC 0.562 Y Tyr TAT 0.438 635 247 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon16:c.C1905T:p.Y635Y . . . . 0.3 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 40.0 . . . . . . . . . . -0.2757 . . . . . . . . 5.940e-05 . . . 0 6.353e-05 0 0.0002 0 7.747e-05 0 6.623e-05 0 7.488e-05 0 0.0001 0 0.0001 0 6.661e-05 synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs782401251 . . . . . . . . . . . . . . ENST00000310701 . . . . . . . . . . . . . . 0 9.11e-06 0 0 6.147e-05 0 0 0 3.536e-05 0 4.021e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148010987 T C - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution synonymous exon GRCh37 148010987 148010987 Chr1(GRCh37):g.148010987T>C 1635 1635 NM_015383.1:c.1635A>G p.Ser545= p.Ser545Ser 14 614003 70 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.79 0 DUF1220 rs782092009 yes no Frequency 1 0.000000 0 0.000327 0.000000 0.000000 0.000000 0.000000 0.000221 0.000689 0.000190 0.000000 0.000689 40 0 0 0 0 2 35 3 0 122226 14706 15760 3168 9778 9068 50812 15766 3168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 0 0 0 0 2 35 3 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM393403|COSM393403 Lung|Kidney 0.000838|0.000578 2388|1729 transition A G A>G 0.004 -0.602 S Ser TCA 0.148 S Ser TCG 0.056 545 176 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon14:c.A1635G:p.S545S . NBPF8:NM_001037501:exon14:c.A1923G:p.S641S . . 0.10412926 . . . 58 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 557.0 . . . . . . . . . . -0.8407 . . . . . . . . 5.386e-04 . . . 0.0033 0.0041 0 0.0026 0 0.0050 0 0.0035 0 0.0018 0 0.0056 0 0.0022 0 0.0036 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs782092009 . . . . . . . . . . . . . . ENST00000310701 . . . . . . . . . . . . . . 0 0.0004 0 0 0 0.0002 0.0010 0 0.0002 0 0 0 0 0 0 0 0 . . . . -0.568 -0.568000 . . . . . 1.0E-176 . . . . . . . . . -0.568 . . rs11488477 rs11488477 . . 1 1538 10 1/0 0,152,255 +. 1 148011027 C T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148011027 148011027 Chr1(GRCh37):g.148011027C>T 1595 1595 NM_015383.1:c.1595G>A p.Gly532Glu p.Gly532Glu 14 614003 30 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 11.505 0 DUF1220 rs782788713 yes no Frequency 1 0.000000 0 0.000022 0.000000 0.000000 0.000208 0.000000 0.000151 0.000000 0.000000 0.000000 0.000208 3 0 0 1 0 2 0 0 0 133934 14264 19894 4816 10282 13274 52706 15080 3618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -2.700 G Gly GGG 0.250 E Glu GAG 0.583 532 14 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 170 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon14:c.G1595A:p.G532E . NBPF8:NM_001037501:exon14:c.G1883A:p.G628E . . 0.1056511 . . . 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.076 . . . . . . . 1 0.012 . . 407.0 . . . . . . . . . . -1.9842 -2.101 -1.984 c . . . . . 1.150e-05 . . . 0 0.0003 0 0 0 0.0005 0 0 0 0.0003 0 0 0 0.0013 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.004 . . 0.486 . . . 0.004 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.067 . . 0.139 . . . . . . 0 . . . . . . . . 0.341 . LowAF 1 rs782788713 . . . . . . . . . . . . . . ENST00000310701 . . . 0.120000 . . . . . . 0.002 . . . 0 2.895e-05 0 0.0002 0 0 0 0 0.0002 0 0 0 0 0 0 0 0 . . 0.498 . -2.833 -2.833000 . . 1.000000 . . 1.0E-170 0.785 0.293 . 0.240 0.324 . 0.072 . 0.163 -2.833 0.057 . rs4125365 rs1924654 . . 1 1538 10 1/0 0,166,255 +. 1 148011902 C G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148011902 148011902 Chr1(GRCh37):g.148011902C>G 1457-114 1457-114 NM_015383.1:c.1457-114G>C p.? p.? 13 12 614003 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.366 0.044 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013424 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013424 148013424 Chr1(GRCh37):g.148013424A>G 1232-53 1232-53 NM_015383.1:c.1232-53T>C p.? p.? 11 10 614003 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3602 Genomes transition T C T>C 0.370 0.205 223 PASS . . . . . . . . . . . . . . . . 0.2244898 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 49.0 . . . . . . . . . . 0.1179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.47 0.27 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013764 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013764 148013764 Chr1(GRCh37):g.148013764A>G 1231+317 1231+317 NM_015383.1:c.1231+317T>C p.? p.? 10 10 614003 317 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.45 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 20.0 . . . . . . . . . . -0.4001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013800 C G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013800 148013800 Chr1(GRCh37):g.148013800C>G 1231+281 1231+281 NM_015383.1:c.1231+281G>C p.? p.? 10 10 614003 281 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 148013782 7.4e-05 71.6045 0.801323 0.0001 71.6045 transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.6111111 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 18.0 . . . . . . . . . . -0.3870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013925 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013925 148013925 Chr1(GRCh37):g.148013925A>G 1231+156 1231+156 NM_015383.1:c.1231+156T>C p.? p.? 10 10 614003 156 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.6909091 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 55.0 . . . . . . . . . . -0.3929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.5 0.32 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013927 T G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013927 148013927 Chr1(GRCh37):g.148013927T>G 1231+154 1231+154 NM_015383.1:c.1231+154A>C p.? p.? 10 10 614003 154 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 148013918 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.58928573 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56.0 . . . . . . . . . . -0.3502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.5 0.35 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148014126 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148014126 148014126 Chr1(GRCh37):g.148014126A>G 1186 1186 NM_015383.1:c.1186T>C p.Tyr396His p.Tyr396His 10 614003 -46 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.65652 0 DUF1220 COSM6374519 Thyroid 0.002677 747 transition T C T>C 0.000 -14.080 Y Tyr TAC 0.562 H His CAC 0.587 396 14 1 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 216 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon10:c.T1186C:p.Y396H . . . . 0.20325203 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.184 . . . . . . . 2 0.264 . . 123.0 . . . . . . . . . . -0.0093 -0.209 -0.009 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 NBPF8 NBPF8 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.098 0.004 . . 37 . 0.110 . . 0.127 . . . 0.761 0.090 . . . . . . . . . . . . . . . . . . . . . . . . . 0.899 . . 0.875 . . . . . . 0 . . . . . . . . 0.572 . HET 0.12 . . . . . . . . . . . . . . . . . . . 0.130000 . . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.130000 . . 1.0E-216 0.000 0.063 . 0.095 0.008 . 0.163 . 0.240 . 0.642 . . . . . 1 1538 10 1/0 0,227,255 +. 1 148014136 G T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148014136 148014136 Chr1(GRCh37):g.148014136G>T 1176 1176 NM_015383.1:c.1176C>A p.Ser392Arg p.Ser392Arg 10 614003 -56 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 4.65498 0 DUF1220 COSM6408896 Thyroid 0.001339 747 transversion C A C>A 0.000 -14.080 S Ser AGC 0.243 R Arg AGA 0.205 392 14 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon10:c.C1176A:p.S392R . . . . 0.4811321 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.078 . . . . . . . 2 0.112 . . 106.0 . . . . . . . . . . -0.9173 -0.866 -0.917 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 NBPF8 NBPF8 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.318 0.013 . . 37 . 0.007 . . 0.357 . . . 0.005 0.090 . . . . . . . . . . . . . . . . . . . . . . . . . 0.437 . . 0.501 . . . . . . 0 . . . . . . . . 0.694 . HET 0.62 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.090 0.027 . 0.019 . 0.009 . 0.557 . . . . . 1 1538 10 1/0 0,255,255 +. 1 148014182 G A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148014182 148014182 Chr1(GRCh37):g.148014182G>A 1130 1130 NM_015383.1:c.1130C>T p.Thr377Ile p.Thr377Ile 10 614003 72 3' 92.4426 10.0294 0.96652 XII.31 92.4426 10.0294 0.96652 XII.71 0 Cryptic Acceptor Weakly Activated 148014173 8.24084 0.916685 88.1329 VIII.71 0.944448 90.8448 DUF1220 COSM6408776 Thyroid 0.001339 747 transition C T C>T 0.016 0.528 T Thr ACT 0.243 I Ile ATT 0.356 377 14 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 209 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon10:c.C1130T:p.T377I . . . . 0.1875 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.344 . . . . . . . 2 0.508 . . 32.0 . . . . . . . . . . -0.1980 -0.519 -0.198 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 NBPF8 NBPF8 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.004 0.001 . . 37 . 0.285 . . 0.029 . . . 0.784 0.090 . . . . . . . . . . . . . . . . . . . . . . . . . 0.899 . . 0.850 . . . . . . 0 . . . . . . . . 0.710 . HET 0 . . . . . . . . . . . . . . . . . . . 0.040000 . . . . . . 0.083 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.497 0.497000 . . 0.040000 . . 1.0E-209 0.050 0.212 . 0.130 0.053 . 0.324 . 0.223 0.497 0.557 . . . . . 1 1538 10 1/0 0,255,255 +. 1 148014197 C T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148014197 148014197 Chr1(GRCh37):g.148014197C>T 1115 1115 NM_015383.1:c.1115G>A p.Gly372Asp p.Gly372Asp 10 614003 57 3' 92.4426 10.0294 0.96652 XII.31 92.4426 10.0294 0.96652 XII.04 0 DUF1220 transition G A G>A 0.008 0.528 G Gly GGT 0.162 D Asp GAT 0.461 372 14 1 -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 111 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon10:c.G1115A:p.G372D . . . . 1.0 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 16.0 . . . . . . . . . . -1.0865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 NBPF8 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.497 0.497000 . . 1.000000 . . 1.0E-111 . . . . . . . . . 0.497 . . . . . . 1 1538 255 1.I 0,0,255 +. 1 148017693 C T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148017693 148017693 Chr1(GRCh37):g.148017693C>T 618-28 618-28 NM_015383.1:c.618-28G>A p.? p.? 6 5 614003 -28 3' 76.7699 7.52764 0.562481 3.41777 76.7699 7.52764 0.562481 III.18 0 rs3977244 yes no Frequency 1 0.000000 0 0.000361 0.002241 0.000000 0.000109 0.000221 0.000000 0.000399 0.000171 0.000695 0.002241 87 29 0 1 4 0 45 4 4 241158 12940 30660 9206 18100 28342 112792 23366 5752 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 29 0 1 4 0 45 4 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.512 0.286 111 PASS . . . . . . . . . . . . . . . . 1.0 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 9.0 . . . . . . . . . . 0.1853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.48 0.37 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs202238988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0076 0.0043 0 0.0046 0.0032 0.0014 0.0041 0.0056 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs3977244 rs3977244 rs3977244 rs202238988 1 1538 255 1.I 0,0,255 +. 1 148025668 G A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148025668 148025668 Chr1(GRCh37):g.148025668G>A 71+93 71+93 NM_015383.1:c.71+93C>T p.? p.? 1 1 614003 93 5' 90.6189 10.0684 0.964038 6.82243 90.6189 10.0684 0.964038 6.82243 0 Cryptic Donor Strongly Activated 148025670 63.976 1.56052 0.046039 72.0099 0.007640 0.012491 0.013932 0.004762 0.000688 0.000000 0.002601 0.023979 0.011628 0.023979 174 70 9 1 1 0 31 54 8 22774 5604 646 210 1454 0 11920 2252 688 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 174 70 9 1 1 0 31 54 8 0 0 0 0 0 0 0 0 0 RF 64 Genomes transition C T C>T 0.016 0.448 198 PASS . . . . . . . . . . . . . . . . 0.15789473 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 38.0 . . . . . . . . . . -0.3819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0125 0.0076 0.0139 0.0048 0.0007 0.0240 0.0026 0.0116 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148025844 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution 5'UTR GRCh37 148025844 148025844 Chr1(GRCh37):g.148025844A>G -13 -13 NM_015383.1:c.-13T>C p.? p.? 1 614003 -84 5' 90.6189 10.0684 0.964038 6.82243 90.6189 10.0684 0.964038 6.82243 0 rs200818786 yes no Frequency 1 0.000000 0 0.000332 0.002549 0.000030 0.000000 0.000163 0.000000 0.000264 0.000086 0.000167 0.002549 85 47 1 0 3 0 31 2 1 256050 18436 33402 9524 18416 29836 117316 23122 5998 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 47 1 0 3 0 31 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.732 192 PASS . . . . . . . . . . . UNKNOWN NBPF8:uc001eqf.4:exon7:c.T1008C:p.D336D NBPF8:NM_001037501:exon7:c.T1008C:p.D336D . . 0.14285715 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 42.0 . . . . . . . . . . -1.3767 . . . . . . . . 8.132e-06 . . . 0 1.202e-05 0 0 0 0 0 6.361e-05 0 1.004e-05 0 0 0 0 0 6.398e-05 unknown synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.78 0.55 182 ENSG00000122497 NBPF8 NBPF8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200818786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.242e-05 1.275e-05 0 0 0 0 1.868e-05 0 0 0.0099 0.0040 0.0015 0 0.0024 0.0007 0.0028 0.0014 . . . . -1.718 -1.718000 . . . . . 9.999999999999999E-193 . . . . . . . . . -1.718 . . rs9438309 rs9438309 rs9438309 rs200818786 1 1538 10 1/0 0,255,255 +. 1 148251852 T C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution 3'UTR GRCh37 148251852 148251852 Chr1(GRCh37):g.148251852T>C *23 *23 NM_001351365.1:c.*23A>G p.? p.? 93 614006 267 3' 92.7607 9.45065 0.981006 13.9884 92.7607 9.45065 0.981006 13.9884 0 Cryptic Acceptor Strongly Activated 148251837 5.37946 0.33415 90.7533 5.93181 0.456763 90.7533 rs782364082 yes no Frequency 1 0.000000 0 0.000007 0.000042 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000042 2 1 1 0 0 0 0 0 0 275882 23664 34404 10148 18832 30782 125998 25638 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.020 0.125 199 PASS . . . . . . . . . . . . . . . . 0.15789473 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 95.0 . . . . . . . . . . -0.1202 . . . . . . . . 7.893e-06 . . . 0 1.119e-05 0 0 0 2.402e-05 0 0 . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . . . . . 0.65 0.75 182 ENSG00000203832 . NBPF25P ENST00000369202:c.*23A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs782364082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.069e-06 2.978e-05 0 0 0 0 0 0 0.0001 3.317e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs17161529 rs4067641 rs4067641 rs4067641 1 1538 10 1/0 0,233,255 +. 1 148251852 T C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution 3'UTR GRCh37 148251852 148251852 Chr1(GRCh37):g.148251852T>C *23 *23 ENST00000369202.1:c.*23A>G p.? p.? 111 614007 267 3' 92.7607 9.45065 0.983009 13.2586 92.7607 9.45065 0.983009 13.2586 0 Cryptic Acceptor Strongly Activated 148251837 5.37946 0.33415 90.7533 5.93181 0.456763 90.7533 rs782364082 yes no Frequency 1 0.000000 0 0.000007 0.000042 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000042 2 1 1 0 0 0 0 0 0 275882 23664 34404 10148 18832 30782 125998 25638 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.020 0.125 199 PASS . . . . . . . . . . . . . . . . 0.15789473 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 95.0 . . . . . . . . . . -0.1202 . . . . . . . . 7.893e-06 . . . 0 1.119e-05 0 0 0 2.402e-05 0 0 . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . . . . . 0.65 0.75 182 ENSG00000203832 . NBPF25P ENST00000369202:c.*23A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs782364082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.069e-06 2.978e-05 0 0 0 0 0 0 0.0001 3.317e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs17161529 rs4067641 rs4067641 rs4067641 1 1538 10 1/0 0,233,255 +. (chr1:148251874 T/C) 1 148251874 T C Transcript NM_001351365.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) NBPF19 +. 1 148251874 T C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution 3'UTR GRCh37 148251874 148251874 Chr1(GRCh37):g.148251874T>C *1 *1 ENST00000369202.1:c.*1A>G p.? p.? 111 614007 245 3' 92.7607 9.45065 0.983009 13.2586 92.7607 9.45065 0.983009 13.2586 0 rs782220257 yes no Frequency 1 0.000000 0 0.000080 0.000688 0.000000 0.000000 0.000000 0.000032 0.000024 0.000039 0.000157 0.000688 22 16 0 0 0 1 3 1 1 274378 23240 34356 10126 18752 30782 125380 25370 6372 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 16 0 0 0 1 3 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.004 -1.167 194 PASS . . . . . . . . . . . . . . . . 0.14545454 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 110.0 . . . . . . . . . . -0.6992 . . . . . . . . 7.893e-06 . . . 0.0001 1.112e-05 0 0 0 0 0 0 0.0001 9.489e-06 0 0 0 0 0 0 . . . . . . UTR3 UTR3 ncRNA_exonic . . . . . . . 0.65 0.68 182 ENSG00000203832 . NBPF25P ENST00000369202:c.*1A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . rs782220257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 3.254e-05 0 0 0 0 0 0 3.249e-05 0.0011 0.0005 0 0 0 0.0003 0.0002 0.0011 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs495726 rs495726 rs495726 rs495726 1 1538 10 1/0 0,226,255 +. 1 148256736 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148256736 148256736 Chr1(GRCh37):g.148256736G>A 10686 10686 NM_001351365.1:c.10686C>T p.Tyr3562= p.Tyr3562Tyr 87 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.016 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3562 199 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon105:c.C13020T:p.Y4340Y . NBPF14:NM_015383:exon62:c.C7839T:p.Y2613Y . . 0.15730338 . . . 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 178.0 . . . . . . . . . . -0.4023 -0.234 -0.402 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-199 0.795 0.294 . 0.062 . . 0.092 . 0.201 . . . rs3926319 rs3926319 . . 1 1538 10 1/0 0,206,255 +. 1 148256736 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148256736 148256736 Chr1(GRCh37):g.148256736G>A 13020 13020 ENST00000369202.1:c.13020C>T p.Tyr4340= p.Tyr4340Tyr 105 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.016 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 4340 199 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon105:c.C13020T:p.Y4340Y . NBPF14:NM_015383:exon62:c.C7839T:p.Y2613Y . . 0.15730338 . . . 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 178.0 . . . . . . . . . . -0.4023 -0.234 -0.402 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-199 0.795 0.294 . 0.062 . . 0.092 . 0.201 . . . rs3926319 rs3926319 . . 1 1538 10 1/0 0,206,255 +. 1 148258288 C G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148258288 148258288 Chr1(GRCh37):g.148258288C>G 10447+29 10447+29 NM_001351365.1:c.10447+29G>C p.? p.? 85 85 614006 29 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.84794 0 transversion G C G>C 0.000 -0.682 191 PASS . . . . . . . . . . . . . . . . 0.1388889 . . . 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 1 148258288 C G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148258288 148258288 Chr1(GRCh37):g.148258288C>G 12781+29 12781+29 ENST00000369202.1:c.12781+29G>C p.? p.? 103 103 614007 29 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.84794 0 transversion G C G>C 0.000 -0.682 191 PASS . . . . . . . . . . . . . . . . 0.1388889 . . . 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 1 148260723 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148260723 148260723 Chr1(GRCh37):g.148260723G>T 10012 10012 NM_001351365.1:c.10012C>A p.Gln3338Lys p.Gln3338Lys 82 614006 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.000 -0.037 Q Gln CAA 0.256 K Lys AAA 0.425 3338 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 183 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon100:c.C12346A:p.Q4116K . . . . 0.12 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50.0 . . . . . . . . . . -1.3008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.08 . . . . . . . . . . . . . IV.28 . ENST00000369202 0.825 -0.321 . 0.270000 E7EWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.095 -0.095000 . . 0.270000 . . 1.0E-183 . . . . . . . . . -0.095 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148260723 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148260723 148260723 Chr1(GRCh37):g.148260723G>T 12346 12346 ENST00000369202.1:c.12346C>A p.Gln4116Lys p.Gln4116Lys 100 614007 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.000 -0.037 Q Gln CAA 0.256 K Lys AAA 0.425 4116 10 2 Sumatran orangutan 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Deleterious 0 IV.32 183 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon100:c.C12346A:p.Q4116K . . . . 0.12 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50.0 . . . . . . . . . . -1.3008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.08 . . . . . . . . . . . . . IV.28 . ENST00000369202 0.825 -0.321 . 0.270000 E7EWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.095 -0.095000 . . 0.270000 . . 1.0E-183 . . . . . . . . . -0.095 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148261500 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148261500 148261500 Chr1(GRCh37):g.148261500G>A 9954 9954 NM_001351365.1:c.9954C>T p.Tyr3318= p.Tyr3318Tyr 81 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 rs879962859 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3318 210 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon99:c.C12288T:p.Y4096Y . . . . 0.18461539 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 130.0 . . . . . . . . . . -0.4068 -0.237 -0.407 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-210 0.743 0.288 . 0.062 . . 0.092 . 0.201 . . . . . . . 1 1538 10 1/0 0,222,255 +. 1 148261500 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148261500 148261500 Chr1(GRCh37):g.148261500G>A 12288 12288 ENST00000369202.1:c.12288C>T p.Tyr4096= p.Tyr4096Tyr 99 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain rs879962859 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 4096 210 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon99:c.C12288T:p.Y4096Y . . . . 0.18461539 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 130.0 . . . . . . . . . . -0.4068 -0.237 -0.407 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-210 0.743 0.288 . 0.062 . . 0.092 . 0.201 . . . . . . . 1 1538 10 1/0 0,222,255 +. 1 148265483 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148265483 148265483 Chr1(GRCh37):g.148265483G>T 9280 9280 NM_001351365.1:c.9280C>A p.Gln3094Lys p.Gln3094Lys 76 614006 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 3094 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 233 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon94:c.C11614A:p.Q3872K . NBPF14:NM_015383:exon57:c.C7165A:p.Q2389K . . 0.25641027 . . . 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 39.0 . . . . . . . . . . -1.0808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET 0.08 . . . . . . . . . . . . . . . ENST00000369202 . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 0.149000 . . 0.340000 . . 1.0000000000000001E-233 . . . . . . . . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148265483 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148265483 148265483 Chr1(GRCh37):g.148265483G>T 11614 11614 ENST00000369202.1:c.11614C>A p.Gln3872Lys p.Gln3872Lys 94 614007 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 3872 10 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 233 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon94:c.C11614A:p.Q3872K . NBPF14:NM_015383:exon57:c.C7165A:p.Q2389K . . 0.25641027 . . . 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 39.0 . . . . . . . . . . -1.0808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET 0.08 . . . . . . . . . . . . . . . ENST00000369202 . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 0.149000 . . 0.340000 . . 1.0000000000000001E-233 . . . . . . . . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148266260 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148266260 148266260 Chr1(GRCh37):g.148266260G>A 9222 9222 NM_001351365.1:c.9222C>T p.Tyr3074= p.Tyr3074Tyr 75 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.020 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3074 186 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon93:c.C11556T:p.Y3852Y . NBPF14:NM_015383:exon56:c.C7107T:p.Y2369Y . . 0.1257485 . . . 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 167.0 . . . . . . . . . . -0.1506 -0.188 -0.151 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.970 0.340 . . . . 0.088 . . . . . . . . . 1 1538 10 1/0 0,206,255 +. 1 148266260 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148266260 148266260 Chr1(GRCh37):g.148266260G>A 11556 11556 ENST00000369202.1:c.11556C>T p.Tyr3852= p.Tyr3852Tyr 93 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.020 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3852 186 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon93:c.C11556T:p.Y3852Y . NBPF14:NM_015383:exon56:c.C7107T:p.Y2369Y . . 0.1257485 . . . 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 167.0 . . . . . . . . . . -0.1506 -0.188 -0.151 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.970 0.340 . . . . 0.088 . . . . . . . . . 1 1538 10 1/0 0,206,255 +. 1 148267848 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148267848 148267848 Chr1(GRCh37):g.148267848G>A 8976 8976 NM_001351365.1:c.8976C>T p.Asp2992= p.Asp2992Asp 73 614006 -8 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.87041 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16616 1490 2400 384 3320 2266 6100 154 502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 52 Exomes transition C T C>T 0.000 -14.080 D Asp GAC 0.539 D Asp GAT 0.461 2992 182 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon91:c.C11310T:p.D3770D . . . . 0.11764706 . . . 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 68.0 . . . . . . . . . . -0.3809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 148267848 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148267848 148267848 Chr1(GRCh37):g.148267848G>A 11310 11310 ENST00000369202.1:c.11310C>T p.Asp3770= p.Asp3770Asp 91 614007 -8 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.87041 0 Neuroblastoma breakpoint family (NBPF) domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16616 1490 2400 384 3320 2266 6100 154 502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 52 Exomes transition C T C>T 0.000 -14.080 D Asp GAC 0.539 D Asp GAT 0.461 3770 182 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon91:c.C11310T:p.D3770D . . . . 0.11764706 . . . 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 68.0 . . . . . . . . . . -0.3809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 148269422 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148269422 148269422 Chr1(GRCh37):g.148269422C>T 8758+15 8758+15 NM_001351365.1:c.8758+15G>A p.? p.? 71 71 614006 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.024 -1.651 183 PASS . . . . . . . . . . . . . . . . 0.121212125 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 66.0 . . . . . . . . . . -0.7379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +. 1 148269422 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148269422 148269422 Chr1(GRCh37):g.148269422C>T 11092+15 11092+15 ENST00000369202.1:c.11092+15G>A p.? p.? 89 89 614007 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.024 -1.651 183 PASS . . . . . . . . . . . . . . . . 0.121212125 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 66.0 . . . . . . . . . . -0.7379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +. 1 148270255 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148270255 148270255 Chr1(GRCh37):g.148270255G>T 8548 8548 NM_001351365.1:c.8548C>A p.Gln2850Lys p.Gln2850Lys 70 614006 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.000 0.448 Q Gln CAA 0.256 K Lys AAA 0.425 2850 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 191 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon88:c.C10882A:p.Q3628K . . . . 0.13953489 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.077 . . . . . . . 1 0.046 . . 43.0 . . . . . . . . . . -1.0124 -1.167 -1.012 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.151 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.011 . . 0.455 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.259 . . 0.227 . . . . . . 4 . . . . . . . . 0.097 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000369202 0.326 0.326 . 0.160000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.427 0.427000 . . 0.160000 . . 1.0E-191 0.013 0.187 . 0.174 . . 0.282 . 0.245 0.427 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148270255 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148270255 148270255 Chr1(GRCh37):g.148270255G>T 10882 10882 ENST00000369202.1:c.10882C>A p.Gln3628Lys p.Gln3628Lys 88 614007 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.000 0.448 Q Gln CAA 0.256 K Lys AAA 0.425 3628 10 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 191 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon88:c.C10882A:p.Q3628K . . . . 0.13953489 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.077 . . . . . . . 1 0.046 . . 43.0 . . . . . . . . . . -1.0124 -1.167 -1.012 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.151 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.011 . . 0.455 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.259 . . 0.227 . . . . . . 4 . . . . . . . . 0.097 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000369202 0.326 0.326 . 0.160000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.427 0.427000 . . 0.160000 . . 1.0E-191 0.013 0.187 . 0.174 . . 0.282 . 0.245 0.427 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148271032 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148271032 148271032 Chr1(GRCh37):g.148271032G>A 8490 8490 NM_001351365.1:c.8490C>T p.Tyr2830= p.Tyr2830Tyr 69 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.000 -0.521 Y Tyr TAC 0.562 Y Tyr TAT 0.438 2830 189 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon87:c.C10824T:p.Y3608Y . . . . 0.13245033 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 1 148271032 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148271032 148271032 Chr1(GRCh37):g.148271032G>A 10824 10824 ENST00000369202.1:c.10824C>T p.Tyr3608= p.Tyr3608Tyr 87 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.000 -0.521 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3608 189 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon87:c.C10824T:p.Y3608Y . . . . 0.13245033 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 1 148274264 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148274264 148274264 Chr1(GRCh37):g.148274264G>T 7971 7971 NM_001351365.1:c.7971C>A p.Ser2657Arg p.Ser2657Arg 65 614006 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 transversion C A C>A 0.012 -1.732 S Ser AGC 0.243 R Arg AGA 0.205 2657 11 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon83:c.C10305A:p.S3435R . NBPF14:NM_015383:exon46:c.C5856A:p.S1952R . . 0.104761906 . . . 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . . . . . . . 1 0.067 . . 105.0 . . . . . . . . . . -1.9056 -2.031 -1.906 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.39 182 ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.123 0.005 . . 37 . 0.005 . . 0.428 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.181 . . 0.227 . . . . . . 5 . . . . . . . . 0.289 . LowAF 1 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.841 -1.841000 . . 1.000000 . . 1.0E-176 0.014 0.188 . 0.234 0.029 . 0.139 . 0.166 -1.841 0.562 . . . . . 1 1538 10 1/0 0,224,255 +. 1 148274264 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148274264 148274264 Chr1(GRCh37):g.148274264G>T 10305 10305 ENST00000369202.1:c.10305C>A p.Ser3435Arg p.Ser3435Arg 83 614007 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 Neuroblastoma breakpoint family (NBPF) domain transversion C A C>A 0.012 -1.732 S Ser AGC 0.243 R Arg AGA 0.205 3435 10 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon83:c.C10305A:p.S3435R . NBPF14:NM_015383:exon46:c.C5856A:p.S1952R . . 0.104761906 . . . 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . . . . . . . 1 0.067 . . 105.0 . . . . . . . . . . -1.9056 -2.031 -1.906 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.39 182 ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.123 0.005 . . 37 . 0.005 . . 0.428 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.181 . . 0.227 . . . . . . 5 . . . . . . . . 0.289 . LowAF 1 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.841 -1.841000 . . 1.000000 . . 1.0E-176 0.014 0.188 . 0.234 0.029 . 0.139 . 0.166 -1.841 0.562 . . . . . 1 1538 10 1/0 0,224,255 +. 1 148275796 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148275796 148275796 Chr1(GRCh37):g.148275796G>A 7758 7758 NM_001351365.1:c.7758C>T p.Tyr2586= p.Tyr2586Tyr 63 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 2586 211 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon81:c.C10092T:p.Y3364Y . NBPF14:NM_015383:exon44:c.C5643T:p.Y1881Y . . 0.1875 . . . 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 160.0 . . . . . . . . . . -0.1500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +. 1 148275796 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148275796 148275796 Chr1(GRCh37):g.148275796G>A 10092 10092 ENST00000369202.1:c.10092C>T p.Tyr3364= p.Tyr3364Tyr 81 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3364 211 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon81:c.C10092T:p.Y3364Y . NBPF14:NM_015383:exon44:c.C5643T:p.Y1881Y . . 0.1875 . . . 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 160.0 . . . . . . . . . . -0.1500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +. 1 148278815 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148278815 148278815 Chr1(GRCh37):g.148278815A>G 7629-2890 7629-2890 NM_001351365.1:c.7629-2890T>C p.? p.? 63 62 614006 -2890 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 transition T C T>C 0.000 -14.080 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278815 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148278815 148278815 Chr1(GRCh37):g.148278815A>G 9628+156 9628+156 ENST00000369202.1:c.9628+156T>C p.? p.? 77 77 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.000 -14.080 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278817 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148278817 148278817 Chr1(GRCh37):g.148278817T>G 7629-2892 7629-2892 NM_001351365.1:c.7629-2892A>C p.? p.? 63 62 614006 -2892 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 Cryptic Acceptor Strongly Activated 148278808 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.11363637 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44.0 . . . . . . . . . . -0.3839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278817 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148278817 148278817 Chr1(GRCh37):g.148278817T>G 9628+154 9628+154 ENST00000369202.1:c.9628+154A>C p.? p.? 77 77 614007 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148278808 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.11363637 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44.0 . . . . . . . . . . -0.3839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278901 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148278901 148278901 Chr1(GRCh37):g.148278901T>G 7629-2976 7629-2976 NM_001351365.1:c.7629-2976A>C p.? p.? 63 62 614006 -2976 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 Cryptic Acceptor Strongly Activated 148278898 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -1.328 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42.0 . . . . . . . . . . -0.7271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278901 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148278901 148278901 Chr1(GRCh37):g.148278901T>G 9628+70 9628+70 ENST00000369202.1:c.9628+70A>C p.? p.? 77 77 614007 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148278898 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -1.328 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42.0 . . . . . . . . . . -0.7271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148282149 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148282149 148282149 Chr1(GRCh37):g.148282149C>T 7628+791 7628+791 NM_001351365.1:c.7628+791G>A p.? p.? 62 62 614006 791 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 transition G A G>A 0.024 -1.328 185 PASS . . . . . . . . . . . . . . . . 0.125 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 64.0 . . . . . . . . . . -0.6734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 1 148282149 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148282149 148282149 Chr1(GRCh37):g.148282149C>T 9121+15 9121+15 ENST00000369202.1:c.9121+15G>A p.? p.? 73 73 614007 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.024 -1.328 185 PASS . . . . . . . . . . . . . . . . 0.125 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 64.0 . . . . . . . . . . -0.6734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 1 148285201 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285201 148285201 Chr1(GRCh37):g.148285201A>G 7347-1266 7347-1266 NM_001351365.1:c.7347-1266T>C p.? p.? 61 60 614006 -1266 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transition T C T>C 0.000 -14.080 239 PASS . . . . . . . . . . . . . . . . 0.28 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285201 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148285201 148285201 Chr1(GRCh37):g.148285201A>G 8614+156 8614+156 ENST00000369202.1:c.8614+156T>C p.? p.? 69 69 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.000 -14.080 239 PASS . . . . . . . . . . . . . . . . 0.28 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285203 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285203 148285203 Chr1(GRCh37):g.148285203T>G 7347-1268 7347-1268 NM_001351365.1:c.7347-1268A>C p.? p.? 61 60 614006 -1268 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 148285194 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 227 PASS . . . . . . . . . . . . . . . . 0.24 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285203 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148285203 148285203 Chr1(GRCh37):g.148285203T>G 8614+154 8614+154 ENST00000369202.1:c.8614+154A>C p.? p.? 69 69 614007 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148285194 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 227 PASS . . . . . . . . . . . . . . . . 0.24 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285287 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285287 148285287 Chr1(GRCh37):g.148285287T>G 7347-1352 7347-1352 NM_001351365.1:c.7347-1352A>C p.? p.? 61 60 614006 -1352 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 148285284 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -14.080 233 PASS . . . . . . . . . . . . . . . . 0.25581396 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.1221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285287 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148285287 148285287 Chr1(GRCh37):g.148285287T>G 8614+70 8614+70 ENST00000369202.1:c.8614+70A>C p.? p.? 69 69 614007 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148285284 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -14.080 233 PASS . . . . . . . . . . . . . . . . 0.25581396 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.1221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285342 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285342 148285342 Chr1(GRCh37):g.148285342C>T 7347-1407 7347-1407 NM_001351365.1:c.7347-1407G>A p.? p.? 61 60 614006 -1407 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transition G A G>A 0.000 -14.080 195 PASS . . . . . . . . . . . . . . . . 0.14754099 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 148285342 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148285342 148285342 Chr1(GRCh37):g.148285342C>T 8614+15 8614+15 ENST00000369202.1:c.8614+15G>A p.? p.? 69 69 614007 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.000 -14.080 195 PASS . . . . . . . . . . . . . . . . 0.14754099 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 148285412 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285412 148285412 Chr1(GRCh37):g.148285412G>T 7347-1477 7347-1477 NM_001351365.1:c.7347-1477C>A p.? p.? 61 60 614006 -1477 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transversion C A C>A 0.004 -2.377 177 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon69:c.C8559A:p.S2853R . . . . 0.10784314 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.012 . . . . . . . 2 0.067 . . 102.0 . . . . . . . . . . -1.6579 -1.868 -1.658 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . 0.000 0.044 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . 0.004 . . 0.434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . 0.231 . LowAF 1 . . . . . . . . . . . . . . . ENST00000369202 . . . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.384 -2.384000 . . 1.000000 . . 1.0E-177 0.016 0.191 . . 0.027 . 0.138 . . -2.384 0.557 . . . . . 1 1538 10 1/0 0,226,255 +. 1 148285412 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148285412 148285412 Chr1(GRCh37):g.148285412G>T 8559 8559 ENST00000369202.1:c.8559C>A p.Ser2853Arg p.Ser2853Arg 69 614007 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 Neuroblastoma breakpoint family (NBPF) domain transversion C A C>A 0.004 -2.377 S Ser AGC 0.243 R Arg AGA 0.205 2853 10 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 177 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon69:c.C8559A:p.S2853R . . . . 0.10784314 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.012 . . . . . . . 2 0.067 . . 102.0 . . . . . . . . . . -1.6579 -1.868 -1.658 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . 0.000 0.044 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . 0.004 . . 0.434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . 0.231 . LowAF 1 . . . . . . . . . . . . . . . ENST00000369202 . . . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.384 -2.384000 . . 1.000000 . . 1.0E-177 0.016 0.191 . . 0.027 . 0.138 . . -2.384 0.557 . . . . . 1 1538 10 1/0 0,226,255 +. 1 148288394 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148288394 148288394 Chr1(GRCh37):g.148288394A>G 7294+156 7294+156 NM_001351365.1:c.7294+156T>C p.? p.? 59 59 614006 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29.0 . . . . . . . . . . -0.3758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148288394 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148288394 148288394 Chr1(GRCh37):g.148288394A>G 8107+156 8107+156 ENST00000369202.1:c.8107+156T>C p.? p.? 65 65 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29.0 . . . . . . . . . . -0.3758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148293164 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148293164 148293164 Chr1(GRCh37):g.148293164A>G 6562+156 6562+156 NM_001351365.1:c.6562+156T>C p.? p.? 53 53 614006 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.000 -1.732 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32.0 . . . . . . . . . . -0.7223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148293164 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148293164 148293164 Chr1(GRCh37):g.148293164A>G 7375+156 7375+156 ENST00000369202.1:c.7375+156T>C p.? p.? 59 59 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.000 -1.732 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32.0 . . . . . . . . . . -0.7223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148298908 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148298908 148298908 Chr1(GRCh37):g.148298908G>T 5620 5620 NM_001351365.1:c.5620C>A p.Gln1874Lys p.Gln1874Lys 46 614006 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 1874 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 190 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon52:c.C6433A:p.Q2145K . . . . 0.1388889 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36.0 . . . . . . . . . . -0.7387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.11 . . . . . . . . . . . . . . . . . . . 0.200000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 0.149000 . . 0.200000 . . 1.0E-190 . . . . . . . . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148298908 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148298908 148298908 Chr1(GRCh37):g.148298908G>T 6433 6433 ENST00000369202.1:c.6433C>A p.Gln2145Lys p.Gln2145Lys 52 614007 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 2145 10 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 190 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon52:c.C6433A:p.Q2145K . . . . 0.1388889 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36.0 . . . . . . . . . . -0.7387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.11 . . . . . . . . . . . . . . . . . . . 0.200000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 0.149000 . . 0.200000 . . 1.0E-190 . . . . . . . . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148302694 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148302694 148302694 Chr1(GRCh37):g.148302694A>G 5098+156 5098+156 NM_001351365.1:c.5098+156T>C p.? p.? 41 41 614006 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41.0 . . . . . . . . . . -0.3994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.46 0.29 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148302694 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148302694 148302694 Chr1(GRCh37):g.148302694A>G 5911+156 5911+156 ENST00000369202.1:c.5911+156T>C p.? p.? 47 47 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41.0 . . . . . . . . . . -0.3994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.46 0.29 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148302696 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148302696 148302696 Chr1(GRCh37):g.148302696T>G 5098+154 5098+154 NM_001351365.1:c.5098+154A>C p.? p.? 41 41 614006 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148302687 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.012 0.125 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148302696 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148302696 148302696 Chr1(GRCh37):g.148302696T>G 5911+154 5911+154 ENST00000369202.1:c.5911+154A>C p.? p.? 47 47 614007 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148302687 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.012 0.125 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148307464 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148307464 148307464 Chr1(GRCh37):g.148307464A>G 4366+156 4366+156 NM_001351365.1:c.4366+156T>C p.? p.? 35 35 614006 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148307464 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148307464 148307464 Chr1(GRCh37):g.148307464A>G 5179+156 5179+156 ENST00000369202.1:c.5179+156T>C p.? p.? 41 41 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148307466 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148307466 148307466 Chr1(GRCh37):g.148307466T>G 4366+154 4366+154 NM_001351365.1:c.4366+154A>C p.? p.? 35 35 614006 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148307457 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.012 0.125 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44.0 . . . . . . . . . . -0.3838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148307466 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148307466 148307466 Chr1(GRCh37):g.148307466T>G 5179+154 5179+154 ENST00000369202.1:c.5179+154A>C p.? p.? 41 41 614007 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148307457 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.012 0.125 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44.0 . . . . . . . . . . -0.3838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148308576 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148308576 148308576 Chr1(GRCh37):g.148308576G>A 4142-120 4142-120 NM_001351365.1:c.4142-120C>T p.? p.? 34 33 614006 -120 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.285815 4.69721 0 Cryptic Acceptor Weakly Activated 148308571 3.15285 0.19486 81.1871 III.25 0.152297 84.7327 transition C T C>T 0.016 0.125 252 PASS . . . . . . . . . . . . . . . . 0.32142857 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148308576 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148308576 148308576 Chr1(GRCh37):g.148308576G>A 4955-120 4955-120 ENST00000369202.1:c.4955-120C>T p.? p.? 40 39 614007 -120 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.285815 4.69721 0 Cryptic Acceptor Weakly Activated 148308571 3.15285 0.19486 81.1871 III.25 0.152297 84.7327 transition C T C>T 0.016 0.125 252 PASS . . . . . . . . . . . . . . . . 0.32142857 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148309219 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148309219 148309219 Chr1(GRCh37):g.148309219G>A 4098 4098 NM_001351365.1:c.4098C>T p.Tyr1366= p.Tyr1366Tyr 33 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.004 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1366 180 PASS . . . . . . . . . . . . . NBPF14:NM_015383:exon38:c.C4911T:p.Y1637Y . . 0.11299435 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.38 0.25 182 ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . rs3926319 . . . 1 1538 10 1/0 0,203,255 +. 1 148309219 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148309219 148309219 Chr1(GRCh37):g.148309219G>A 4911 4911 ENST00000369202.1:c.4911C>T p.Tyr1637= p.Tyr1637Tyr 39 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.004 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1637 180 PASS . . . . . . . . . . . . . NBPF14:NM_015383:exon38:c.C4911T:p.Y1637Y . . 0.11299435 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.38 0.25 182 ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . rs3926319 . . . 1 1538 10 1/0 0,203,255 +. 1 148312371 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148312371 148312371 Chr1(GRCh37):g.148312371C>T 3634+15 3634+15 NM_001351365.1:c.3634+15G>A p.? p.? 29 29 614006 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.067 0.125 195 PASS . . . . . . . . . . . . . . . . 0.14754099 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.47 0.24 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 148312371 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148312371 148312371 Chr1(GRCh37):g.148312371C>T 4447+15 4447+15 ENST00000369202.1:c.4447+15G>A p.? p.? 35 35 614007 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.067 0.125 195 PASS . . . . . . . . . . . . . . . . 0.14754099 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.47 0.24 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 148315533 C G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148315533 148315533 Chr1(GRCh37):g.148315533C>G 3127+29 3127+29 NM_001351365.1:c.3127+29G>C p.? p.? 25 25 614006 29 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.84794 0 transversion G C G>C 0.319 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56.0 . . . . . . . . . . 0.0783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.36 0.15 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . rs71272184 . . 1 1538 10 1/0 0,253,255 +. 1 148315533 C G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148315533 148315533 Chr1(GRCh37):g.148315533C>G 3940+29 3940+29 ENST00000369202.1:c.3940+29G>C p.? p.? 31 31 614007 29 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.84794 0 transversion G C G>C 0.319 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56.0 . . . . . . . . . . 0.0783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.36 0.15 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . rs71272184 . . 1 1538 10 1/0 0,253,255 +. 1 148317084 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148317084 148317084 Chr1(GRCh37):g.148317084T>G 2902+70 2902+70 NM_001351365.1:c.2902+70A>C p.? p.? 23 23 614006 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148317081 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.055 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148317084 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148317084 148317084 Chr1(GRCh37):g.148317084T>G 3715+70 3715+70 ENST00000369202.1:c.3715+70A>C p.? p.? 29 29 614007 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148317081 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.055 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148318753 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148318753 148318753 Chr1(GRCh37):g.148318753G>A 2634 2634 NM_001351365.1:c.2634C>T p.Tyr878= p.Tyr878Tyr 21 614006 -44 5' 86.8199 10.1256 0.988158 6.0602 86.8199 10.1256 0.988158 5.56063 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 878 204 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon27:c.C3447T:p.Y1149Y . NBPF14:NM_015383:exon26:c.C3447T:p.Y1149Y . . 0.17021276 . . . 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 141.0 . . . . . . . . . . -0.1371 -0.178 -0.137 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.25 182 ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-204 0.000 0.063 . 0.043 . . 0.130 . 0.269 . . . rs4101264 . . . 1 1538 10 1/0 0,217,255 +. 1 148318753 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148318753 148318753 Chr1(GRCh37):g.148318753G>A 3447 3447 ENST00000369202.1:c.3447C>T p.Tyr1149= p.Tyr1149Tyr 27 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1149 204 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon27:c.C3447T:p.Y1149Y . NBPF14:NM_015383:exon26:c.C3447T:p.Y1149Y . . 0.17021276 . . . 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 141.0 . . . . . . . . . . -0.1371 -0.178 -0.137 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.25 182 ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-204 0.000 0.063 . 0.043 . . 0.130 . 0.269 . . . rs4101264 . . . 1 1538 10 1/0 0,217,255 +. 1 148321836 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148321836 148321836 Chr1(GRCh37):g.148321836T>G 2170+70 2170+70 NM_001351365.1:c.2170+70A>C p.? p.? 17 17 614006 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148321833 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -1.328 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60.0 . . . . . . . . . . -0.7220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.52 0.36 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 1 148321836 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148321836 148321836 Chr1(GRCh37):g.148321836T>G 2983+70 2983+70 ENST00000369202.1:c.2983+70A>C p.? p.? 23 23 614007 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148321833 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -1.328 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60.0 . . . . . . . . . . -0.7220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.52 0.36 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 1 148321961 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148321961 148321961 Chr1(GRCh37):g.148321961G>T 2115 2115 NM_001351365.1:c.2115C>A p.Ser705Arg p.Ser705Arg 17 614006 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.016 -1.732 S Ser AGC 0.243 R Arg AGA 0.205 705 11 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon23:c.C2928A:p.S976R NBPF14:uc021owp.2:exon22:c.C2928A:p.S976R NBPF14:NM_015383:exon22:c.C2928A:p.S976R . . 0.11235955 . . . 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 89.0 . . . . . . . . . . -1.5844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . ENST00000369202 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.841 -1.841000 . . 1.000000 . . 1.0E-179 . . . . . . . . . -1.841 . . . . . . 1 1538 10 1/0 0,232,255 +. 1 148321961 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148321961 148321961 Chr1(GRCh37):g.148321961G>T 2928 2928 ENST00000369202.1:c.2928C>A p.Ser976Arg p.Ser976Arg 23 614007 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 Neuroblastoma breakpoint family (NBPF) domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.016 -1.732 S Ser AGC 0.243 R Arg AGA 0.205 976 10 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon23:c.C2928A:p.S976R NBPF14:uc021owp.2:exon22:c.C2928A:p.S976R NBPF14:NM_015383:exon22:c.C2928A:p.S976R . . 0.11235955 . . . 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 89.0 . . . . . . . . . . -1.5844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . ENST00000369202 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.841 -1.841000 . . 1.000000 . . 1.0E-179 . . . . . . . . . -1.841 . . . . . . 1 1538 10 1/0 0,232,255 +. 1 148322819 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148322819 148322819 Chr1(GRCh37):g.148322819A>G 1946-81 1946-81 NM_001351365.1:c.1946-81T>C p.? p.? 16 15 614006 -81 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.285815 4.26379 0 Cryptic Donor Strongly Activated 148322817 1.883 0.189652 64.9151 4.04382 0.312029 69.0431 transition T C T>C 0.016 0.125 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148322819 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148322819 148322819 Chr1(GRCh37):g.148322819A>G 2759-81 2759-81 ENST00000369202.1:c.2759-81T>C p.? p.? 22 21 614007 -81 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.285815 4.26379 0 Cryptic Donor Strongly Activated 148322817 1.883 0.189652 64.9151 4.04382 0.312029 69.0431 transition T C T>C 0.016 0.125 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148327325 A C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148327325 148327325 Chr1(GRCh37):g.148327325A>C 1265+124 1265+124 NM_001351365.1:c.1265+124T>G p.? p.? 10 10 614006 124 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion T G T>G 0.000 0.367 236 PASS . . . . . . . . . . . . . . . . 0.26923078 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148327325 A C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148327325 148327325 Chr1(GRCh37):g.148327325A>C 2078+124 2078+124 ENST00000369202.1:c.2078+124T>G p.? p.? 16 16 614007 124 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion T G T>G 0.000 0.367 236 PASS . . . . . . . . . . . . . . . . 0.26923078 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148327333 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148327333 148327333 Chr1(GRCh37):g.148327333G>T 1265+116 1265+116 NM_001351365.1:c.1265+116C>A p.? p.? 10 10 614006 116 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 rs201097514 no no 0 0.000000 0 transversion C A C>A 0.008 -0.521 239 PASS . . . . . . . . . . . . . . . . 0.28 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.47 0.24 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201097514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . rs201097514 rs201097514 1 1538 10 1/0 0,255,255 +. 1 148327333 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148327333 148327333 Chr1(GRCh37):g.148327333G>T 2078+116 2078+116 ENST00000369202.1:c.2078+116C>A p.? p.? 16 16 614007 116 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 rs201097514 no no 0 0.000000 0 transversion C A C>A 0.008 -0.521 239 PASS . . . . . . . . . . . . . . . . 0.28 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.47 0.24 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201097514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . rs201097514 rs201097514 1 1538 10 1/0 0,255,255 +. 1 148328284 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148328284 148328284 Chr1(GRCh37):g.148328284C>T 1149 1149 NM_001351365.1:c.1149G>A p.Gln383= p.Gln383Gln 9 614006 -65 5' 86.8199 10.1256 0.988158 7.10537 86.8199 10.1256 0.988158 7.0742 0 Cryptic Acceptor Strongly Activated 148328275 0.084175 4.01193 0.05893 76.2826 0.000155 0.000000 0.000000 0.000000 0.000000 0.000000 0.000426 0.002674 0.000000 0.002674 5 0 0 0 0 0 4 1 0 32268 3974 6886 794 5528 4406 9398 374 908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 4 1 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.091 0.205 Q Gln CAG 0.744 Q Gln CAA 0.256 383 221 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon15:c.G1962A:p.Q654Q NBPF14:uc021owp.2:exon14:c.G1962A:p.Q654Q NBPF14:NM_015383:exon14:c.G1962A:p.Q654Q . . 0.2173913 . . . 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0033 0.0004 0 0 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 148328284 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148328284 148328284 Chr1(GRCh37):g.148328284C>T 1962 1962 ENST00000369202.1:c.1962G>A p.Gln654= p.Gln654Gln 15 614007 -65 5' 86.8199 10.1256 0.988158 7.15508 86.8199 10.1256 0.988158 7.12391 0 Cryptic Acceptor Strongly Activated 148328275 0.084175 4.01193 0.05893 76.2826 Neuroblastoma breakpoint family (NBPF) domain 0.000155 0.000000 0.000000 0.000000 0.000000 0.000000 0.000426 0.002674 0.000000 0.002674 5 0 0 0 0 0 4 1 0 32268 3974 6886 794 5528 4406 9398 374 908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 4 1 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.091 0.205 Q Gln CAG 0.744 Q Gln CAA 0.256 654 221 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon15:c.G1962A:p.Q654Q NBPF14:uc021owp.2:exon14:c.G1962A:p.Q654Q NBPF14:NM_015383:exon14:c.G1962A:p.Q654Q . . 0.2173913 . . . 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0033 0.0004 0 0 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 148329097 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148329097 148329097 Chr1(GRCh37):g.148329097G>T 989-16 989-16 NM_001351365.1:c.989-16C>A p.? p.? 8 7 614006 -16 3' 88.1024 8.49409 0.879036 3.66975 88.1024 7.45302 0.828629 2.78636 -0.0599691 148329094 -20.2941 0.000963 0.002000 0.001087 0.000000 0.000000 0.000714 0.001497 0.000000 0.000000 0.002000 6 1 2 0 0 1 2 0 0 6230 500 1840 120 812 1400 1336 20 202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 2 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 109 Exomes transversion C A C>A 0.098 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53.0 . . . . . . . . . . -0.1139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 0.0010 0.0011 0 0 0 0.0015 0 0.0007 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9424637 rs9424637 rs9424637 rs77984602 1 1538 10 1/0 0,255,255 +. 1 148329097 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148329097 148329097 Chr1(GRCh37):g.148329097G>T 1802-16 1802-16 ENST00000369202.1:c.1802-16C>A p.? p.? 14 13 614007 -16 3' 88.1024 8.49409 0.916777 3.17618 88.1024 7.45302 0.873668 2.29279 -0.0565287 148329094 -20.2941 0.000963 0.002000 0.001087 0.000000 0.000000 0.000714 0.001497 0.000000 0.000000 0.002000 6 1 2 0 0 1 2 0 0 6230 500 1840 120 812 1400 1336 20 202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 2 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 109 Exomes transversion C A C>A 0.098 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53.0 . . . . . . . . . . -0.1139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 0.0010 0.0011 0 0 0 0.0015 0 0.0007 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9424637 rs9424637 rs9424637 rs77984602 1 1538 10 1/0 0,255,255 +. 1 148329184 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148329184 148329184 Chr1(GRCh37):g.148329184G>A 989-103 989-103 NM_001351365.1:c.989-103C>T p.? p.? 8 7 614006 -103 3' 88.1024 8.49409 0.879036 3.66975 88.1024 8.49409 0.879036 3.66975 0 Cryptic Acceptor Strongly Activated 148329176 0.443656 6,00E-05 60.5109 0.565903 6.8e-05 62.3208 transition C T C>T 0.106 0.125 189 PASS . . . . . . . . . . . . . . . . 0.13513513 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37.0 . . . . . . . . . . -0.3705 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.34 0.25 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs9438344 rs9438344 rs9438344 rs9438344 1 1538 10 1/0 0,255,255 +. 1 148329184 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148329184 148329184 Chr1(GRCh37):g.148329184G>A 1802-103 1802-103 ENST00000369202.1:c.1802-103C>T p.? p.? 14 13 614007 -103 3' 88.1024 8.49409 0.916777 3.17618 88.1024 8.49409 0.916777 3.17618 0 Cryptic Acceptor Strongly Activated 148329176 0.443656 6,00E-05 60.5109 0.565903 6.8e-05 62.3208 transition C T C>T 0.106 0.125 189 PASS . . . . . . . . . . . . . . . . 0.13513513 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37.0 . . . . . . . . . . -0.3705 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.34 0.25 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs9438344 rs9438344 rs9438344 rs9438344 1 1538 10 1/0 0,255,255 +. 1 148330178 T C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148330178 148330178 Chr1(GRCh37):g.148330178T>C 934 934 NM_001351365.1:c.934A>G p.Ser312Gly p.Ser312Gly 7 614006 -55 5' 71.5327 7.394 0.757364 3.10064 71.5327 7.394 0.757364 3.51177 0 Cryptic Acceptor Weakly Activated 148330159 0.803954 0.080489 75.4773 1.82989 0.08342 75.4773 transition A G A>G 0.000 0.528 S Ser AGC 0.243 G Gly GGC 0.342 312 11 5 Armadillo 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Deleterious 0.04 IV.32 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . . . . . . . 1 0.195 . . 63.0 . . . . . . . . . . -0.6911 -0.933 -0.691 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.163 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.144 . . 0.062 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.715 . . 0.722 . . . . . . 3 . . . . . . . . 0.326 . LowAF 0.17 . . . . . . . . . . . . . . . . 0.547 0.547 . 0.170000 . . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.514 0.514000 . . 0.170000 . . 1.0E-179 0.000 0.063 . 0.062 0.204 . 0.114 . 0.271 0.514 0.615 . . rs71232007 rs71232007 rs71232007 1 1538 10 1/0 0,247,255 +. 1 148330178 T C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148330178 148330178 Chr1(GRCh37):g.148330178T>C 1747 1747 ENST00000369202.1:c.1747A>G p.Ser583Gly p.Ser583Gly 13 614007 -55 5' 71.5327 7.394 0.757364 3.10064 71.5327 7.394 0.757364 3.51177 0 Cryptic Acceptor Weakly Activated 148330159 0.803954 0.080489 75.4773 1.82989 0.08342 75.4773 Neuroblastoma breakpoint family (NBPF) domain transition A G A>G 0.000 0.528 S Ser AGC 0.243 G Gly GGC 0.342 583 10 4 Armadillo 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Deleterious 0.02 IV.32 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . . . . . . . 1 0.195 . . 63.0 . . . . . . . . . . -0.6911 -0.933 -0.691 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.163 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.144 . . 0.062 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.715 . . 0.722 . . . . . . 3 . . . . . . . . 0.326 . LowAF 0.17 . . . . . . . . . . . . . . . . 0.547 0.547 . 0.170000 . . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.514 0.514000 . . 0.170000 . . 1.0E-179 0.000 0.063 . 0.062 0.204 . 0.114 . 0.271 0.514 0.615 . . rs71232007 rs71232007 rs71232007 1 1538 10 1/0 0,247,255 +. (chr1:148335587 C/G) 1 148335587 C G Transcript NM_001351365.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) NBPF19 +. 1 148335587 C G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148335587 148335587 Chr1(GRCh37):g.148335587C>G 1533 1533 ENST00000369202.1:c.1533G>C p.Leu511= p.Leu511Leu 11 614007 -53 5' 71.4448 7.13302 0.639474 2.38148 71.4448 7.13302 0.639474 2.56522 0 Neuroblastoma breakpoint family (NBPF) domain transversion G C G>C 0.000 -1.086 L Leu CTG 0.404 L Leu CTC 0.197 511 191 PASS . . . . . . . . . . . . . . . . 0.14 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 50.0 . . . . . . . . . . -0.4118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.37 182 ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs521219 rs521219 rs521219 rs521219 1 1538 10 1/0 0,255,255 +. 1 148335592 T C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148335592 148335592 Chr1(GRCh37):g.148335592T>C 715 715 NM_001351365.1:c.715A>G p.Thr239Ala p.Thr239Ala 5 614006 -58 5' 71.4448 7.13302 0.639474 2.56522 71.4448 7.13302 0.639474 2.86017 0 transition A G A>G 0.000 0.125 T Thr ACT 0.243 A Ala GCT 0.263 239 11 3 Olive baboon 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.16 IV.32 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . . . . . . . 1 0.010 . . 49.0 . . . . . . . . . . -1.0989 -1.193 -1.099 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.138 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.006 . . 0.423 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.252 . . 0.317 . . . . . . 3 . . . . . . . . 0.329 . LowAF 0.5 . . . . . . . . . . . . . . . . 0.109 0.109 . 1.000000 . . . . . . 0.045 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.156 0.156000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.236 . 0.061 . 0.022 0.156 0.062 . . . . . 1 1538 10 1/0 0,255,255 +. 1 148335592 T C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148335592 148335592 Chr1(GRCh37):g.148335592T>C 1528 1528 ENST00000369202.1:c.1528A>G p.Thr510Ala p.Thr510Ala 11 614007 -58 5' 71.4448 7.13302 0.639474 2.38148 71.4448 7.13302 0.639474 2.67643 0 Neuroblastoma breakpoint family (NBPF) domain transition A G A>G 0.000 0.125 T Thr ACT 0.243 A Ala GCT 0.263 510 10 5 Macaque 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 251.13 0.00 Tolerated 0.07 IV.32 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . . . . . . . 1 0.010 . . 49.0 . . . . . . . . . . -1.0989 -1.193 -1.099 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.138 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.006 . . 0.423 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.252 . . 0.317 . . . . . . 3 . . . . . . . . 0.329 . LowAF 0.5 . . . . . . . . . . . . . . . . 0.109 0.109 . 1.000000 . . . . . . 0.045 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.156 0.156000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.236 . 0.061 . 0.022 0.156 0.062 . . . . . 1 1538 10 1/0 0,255,255 +. 1 148337418 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148337418 148337418 Chr1(GRCh37):g.148337418A>G 494-1141 494-1141 NM_001351365.1:c.494-1141T>C p.? p.? 4 3 614006 -1141 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transition T C T>C 0.079 -1.812 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 36.0 . . . . . . . . . . -0.4387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.28 0.27 182 ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs61801875 rs61801875 rs9441240 rs61801875 1 1538 10 1/0 0,255,255 +. 1 148337418 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148337418 148337418 Chr1(GRCh37):g.148337418A>G 1206 1206 ENST00000369202.1:c.1206T>C p.Leu402= p.Leu402Leu 9 614007 -101 5' 94.9812 11.083 0.995156 8.05831 94.9812 11.083 0.995156 8.05831 0 transition T C T>C 0.079 -1.812 L Leu CTT 0.129 L Leu CTC 0.197 402 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 36.0 . . . . . . . . . . -0.4387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.28 0.27 182 ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs61801875 rs61801875 rs9441240 rs61801875 1 1538 10 1/0 0,255,255 +. 1 148337449 C A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148337449 148337449 Chr1(GRCh37):g.148337449C>A 494-1172 494-1172 NM_001351365.1:c.494-1172G>T p.? p.? 4 3 614006 -1172 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 rs61801874 no no 0 0.000000 0 transversion G T G>T 0.000 -1.893 200 PASS . . . . . . . . . . . . . . . . 0.16129032 . . . 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.284 . . . . . . . 1 0.096 . . 62.0 . . . . . . . . . . -1.3866 -1.622 -1.387 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.102 . . . . 0.49 0.38 182 ENSG00000203832 . . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.058 0.003 . . 37 . 0.209 . . 0.126 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.559 . . 0.567 . . . . . . 3 . . . . . . 0.152 . 0.545 . HET 0 rs61801874 . . . . . . . . . . . . V.26 . . 0.416 -0.832 . 0.610000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.902 -1.902000 . . 0.610000 . . 1.0E-200 0.000 0.063 . 0.016 0.000 . 0.052 . 0.058 -1.902 -0.355 . rs61801874 rs61801874 rs61801874 rs61801874 1 1538 10 1/0 0,252,255 +. 1 148337449 C A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148337449 148337449 Chr1(GRCh37):g.148337449C>A 1175 1175 ENST00000369202.1:c.1175G>T p.Arg392Leu p.Arg392Leu 9 614007 84 3' 76.3466 9.44659 0.835517 6.97683 76.3466 9.44659 0.835517 6.97683 0 rs61801874 no no 0 0.000000 0 transversion G T G>T 0.000 -1.893 R Arg CGC 0.190 L Leu CTC 0.197 392 10 4 Sumatran orangutan -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 274.61 0.00 Deleterious 0.04 IV.32 200 PASS . . . . . . . . . . . . . . . . 0.16129032 . . . 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.284 . . . . . . . 1 0.096 . . 62.0 . . . . . . . . . . -1.3866 -1.622 -1.387 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.102 . . . . 0.49 0.38 182 ENSG00000203832 . . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.058 0.003 . . 37 . 0.209 . . 0.126 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.559 . . 0.567 . . . . . . 3 . . . . . . 0.152 . 0.545 . HET 0 rs61801874 . . . . . . . . . . . . V.26 . . 0.416 -0.832 . 0.610000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.902 -1.902000 . . 0.610000 . . 1.0E-200 0.000 0.063 . 0.016 0.000 . 0.052 . 0.058 -1.902 -0.355 . rs61801874 rs61801874 rs61801874 rs61801874 1 1538 10 1/0 0,252,255 +. 1 148337510 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148337510 148337510 Chr1(GRCh37):g.148337510C>T 494-1233 494-1233 NM_001351365.1:c.494-1233G>A p.? p.? 4 3 614006 -1233 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transition G A G>A 0.291 -1.893 192 PASS . . . . . . . . . . . . . . . . 0.14035088 . . . 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.280 . . . . . . . 1 0.187 . . 57.0 . . . . . . . . . . -1.6162 -1.737 -1.616 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.156 . . . . . . . ENSG00000203832 . . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.172 0.006 . . 37 . 0.013 . . 0.487 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.298 . . 0.198 . . . . . . 3 . . . . . . 0.148 . 0.401 . LowAF 0.04 . . . . . . . . . . . . . V.95 . . 0.416 0.416 . 0.170000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.728 -1.728000 . . 0.170000 . . 9.999999999999999E-193 0.001 0.137 . 0.016 0.002 . 0.023 . 0.001 -1.728 -1.744 . . . rs71241064 rs71241064 1 1538 10 1/0 0,254,255 +. 1 148337510 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148337510 148337510 Chr1(GRCh37):g.148337510C>T 1114 1114 ENST00000369202.1:c.1114G>A p.Ala372Thr p.Ala372Thr 9 614007 23 3' 76.3466 9.44659 0.835517 6.97683 76.3466 9.44659 0.835517 6.29368 0 transition G A G>A 0.291 -1.893 A Ala GCT 0.263 T Thr ACT 0.243 372 10 2 Sumatran orangutan 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 236.23 0.00 Deleterious 0.04 IV.32 192 PASS . . . . . . . . . . . . . . . . 0.14035088 . . . 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.280 . . . . . . . 1 0.187 . . 57.0 . . . . . . . . . . -1.6162 -1.737 -1.616 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.156 . . . . . . . ENSG00000203832 . . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.172 0.006 . . 37 . 0.013 . . 0.487 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.298 . . 0.198 . . . . . . 3 . . . . . . 0.148 . 0.401 . LowAF 0.04 . . . . . . . . . . . . . V.95 . . 0.416 0.416 . 0.170000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.728 -1.728000 . . 0.170000 . . 9.999999999999999E-193 0.001 0.137 . 0.016 0.002 . 0.023 . 0.001 -1.728 -1.744 . . . rs71241064 rs71241064 1 1538 10 1/0 0,254,255 +. 1 148337582 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148337582 148337582 Chr1(GRCh37):g.148337582C>T 494-1305 494-1305 NM_001351365.1:c.494-1305G>A p.? p.? 4 3 614006 -1305 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 rs111393524 no no 0 0.000000 0 transition G A G>A 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.48387095 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 31.0 . . . . . . . . . . -0.6001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.59 0.35 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111393524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111393524 rs111393524 1 1538 10 1/0 0,255,255 +. 1 148337582 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148337582 148337582 Chr1(GRCh37):g.148337582C>T 1092-50 1092-50 ENST00000369202.1:c.1092-50G>A p.? p.? 9 8 614007 -50 3' 76.3466 9.44659 0.835517 6.97683 76.3466 9.44659 0.835517 7.01426 0 rs111393524 no no 0 0.000000 0 transition G A G>A 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.48387095 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 31.0 . . . . . . . . . . -0.6001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.59 0.35 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111393524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111393524 rs111393524 1 1538 10 1/0 0,255,255 +. 1 148338349 A C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148338349 148338349 Chr1(GRCh37):g.148338349A>C 494-2072 494-2072 NM_001351365.1:c.494-2072T>G p.? p.? 4 3 614006 -2072 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transversion T G T>G 0.071 -2.297 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33.0 . . . . . . . . . . -0.8892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.46 0.32 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61801873 rs61801873 rs61801873 rs61801873 1 1538 10 1/0 0,255,255 +. 1 148338349 A C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148338349 148338349 Chr1(GRCh37):g.148338349A>C 1091+18 1091+18 ENST00000369202.1:c.1091+18T>G p.? p.? 8 8 614007 18 5' 90.6189 10.0684 0.964038 V.23 90.6189 10.0684 0.964038 6.60342 0 transversion T G T>G 0.071 -2.297 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33.0 . . . . . . . . . . -0.8892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.46 0.32 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61801873 rs61801873 rs61801873 rs61801873 1 1538 10 1/0 0,255,255 +. 1 148338369 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148338369 148338369 Chr1(GRCh37):g.148338369G>A 494-2092 494-2092 NM_001351365.1:c.494-2092C>T p.? p.? 4 3 614006 -2092 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transition C T C>T 0.165 0.044 180 PASS . . . . . . . . . . . . . . . . 0.114754096 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 1 148338369 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148338369 148338369 Chr1(GRCh37):g.148338369G>A 1089 1089 ENST00000369202.1:c.1089C>T p.Leu363= p.Leu363Leu 8 614007 -3 5' 90.6189 10.0684 0.964038 V.23 86.4908 7.64824 0.94689 2.54912 -0.101237 transition C T C>T 0.165 0.044 L Leu CTC 0.197 L Leu CTT 0.129 363 180 PASS . . . . . . . . . . . . . . . . 0.114754096 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 1 148338403 T A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148338403 148338403 Chr1(GRCh37):g.148338403T>A 494-2126 494-2126 NM_001351365.1:c.494-2126A>T p.? p.? 4 3 614006 -2126 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transversion A T A>T 0.165 0.044 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . . 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.377 . . . . . . . 1 0.294 . . 96.0 . . . . . . . . . . -0.5609 -0.846 -0.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.087 . . 0.076 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.715 . . 0.774 . . . . . . 3 . . . . . . . . 0.459 . LowAF 0.01 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.056 0.056000 . . 0.000000 . . 1.0E-175 0.000 0.063 . 0.114 0.017 . 0.107 . 0.277 0.056 0.368 . . . . . 1 1538 10 1/0 0,228,255 +. 1 148338403 T A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148338403 148338403 Chr1(GRCh37):g.148338403T>A 1055 1055 ENST00000369202.1:c.1055A>T p.Lys352Met p.Lys352Met 8 614007 -37 5' 90.6189 10.0684 0.964038 V.23 90.6189 10.0684 0.964038 6.02622 0 transversion A T A>T 0.165 0.044 K Lys AAG 0.575 M Met ATG 1.000 352 10 2 Western lowland gorilla -1 -1 -3 0.33 0 11.III 5.VII 119 105 95 C0 353.86 0.00 Deleterious 0.01 IV.32 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . . 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.377 . . . . . . . 1 0.294 . . 96.0 . . . . . . . . . . -0.5609 -0.846 -0.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.087 . . 0.076 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.715 . . 0.774 . . . . . . 3 . . . . . . . . 0.459 . LowAF 0.01 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.056 0.056000 . . 0.000000 . . 1.0E-175 0.000 0.063 . 0.114 0.017 . 0.107 . 0.277 0.056 0.368 . . . . . 1 1538 10 1/0 0,228,255 +. 1 148579546 C G - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148579546 148579546 Chr1(GRCh37):g.148579546C>G 176-60 176-60 NM_001170755.2:c.176-60C>G p.? p.? 9 8 610414 -60 3' 88.016 9.98334 0.865815 2.44632 88.016 9.98334 0.865815 2.57636 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000074 0.000000 0.000000 0.000074 1 0 0 0 0 0 1 0 0 28084 7638 794 228 1556 0 13526 3450 892 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion C G C>G 0.335 0.528 187 PASS . . . . . . . . . . . . . . . . 0.12962963 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54.0 . . . . . . . . . . -0.1926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.43 0.35 182 ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.561e-05 0 0 0 0 7.393e-05 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs75211658 rs75211658 1 1538 10 1/0 0,255,255 +. 1 148579574 C G - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148579574 148579574 Chr1(GRCh37):g.148579574C>G 176-32 176-32 NM_001170755.2:c.176-32C>G p.? p.? 9 8 610414 -32 3' 88.016 9.98334 0.865815 2.44632 88.016 9.98334 0.865815 2.21391 0 transversion C G C>G 0.327 0.528 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 64.0 . . . . . . . . . . -0.1196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +. 1 148581763 G T - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148581763 148581763 Chr1(GRCh37):g.148581763G>T 494-33 494-33 NM_001170755.2:c.494-33G>T p.? p.? 11 10 610414 -33 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 VIII.16 0 New Donor Site 148581761 5.1791 0.969811 76.2827 transversion G T G>T 0.020 -0.360 207 PASS . . . . . . . . . . . . . . . . 0.17582418 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 182.0 . . . . . . . . . . -0.3414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.42 0.33 182 ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs3881754 rs3881754 rs3881754 rs3881754 1 1538 10 1/0 0,207,255 +. 1 148581806 C T - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution synonymous exon GRCh37 148581806 148581806 Chr1(GRCh37):g.148581806C>T 504 504 NM_001170755.2:c.504C>T p.Asn168= p.Asn168Asn 11 610414 11 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.860398 7.98437 -0.0249778 0.000535 0.001592 0.001403 0.016129 0.000000 0.000000 0.000000 0.000000 0.000000 0.016129 4 1 2 1 0 0 0 0 0 7472 628 1426 62 438 1028 1762 1824 304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.732 N Asn AAC 0.536 N Asn AAT 0.464 168 232 PASS . . . . . . . . . . . . . . . . 0.24864864 . . . 46 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 185.0 . . . . . . . . . . -0.7929 -0.277 -0.793 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.44 0.3 182 ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0.025 0 0 0 0 0 0.0019 0.0007 0.0101 0 0 0 0 0 . . 0.428 . . . . . . . . 1.0E-232 0.061 0.216 . 0.043 . . 0.142 . 0.035 . . . rs4661824 rs4661824 rs4661824 rs4661824 1 1538 10 1/0 0,214,255 +. 1 148581810 G C - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution missense exon GRCh37 148581810 148581810 Chr1(GRCh37):g.148581810G>C 508 508 NM_001170755.2:c.508G>C p.Asp170His p.Asp170His 11 610414 15 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.941329 7.76896 0.00402684 0.000265 0.002146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002146 1 1 0 0 0 0 0 0 0 3768 466 184 24 56 0 1122 1746 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 69 Genomes transversion G C G>C 0.000 0.125 D Asp GAC 0.539 H His CAC 0.587 170 12 3 Cow 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 353.86 0.00 Tolerated 0.05 II.78 200 PASS . . . . . . . . . . . . . . . . 0.15873016 . . . 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.183 . . . . . . . 1 0.080 . . 189.0 . . . . . . . . . . -0.8996 -1.075 -0.900 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . 0.29 0.24 182 ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.006 . . 0.477 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.782 . . 0 0 0 0 . 0 . 0.439 . . 0.368 . . . . . . 1 0.654 . . . . . . . 0.238 . HET 0.03 . . . . . . . . . . . . . . . . . . . 0.170000 Q8N660 . . . . . 0.036 . . . . . . . . . . . . 0.0021 0.0003 0 0 0 0 0 0 . . 0.428 . 0.172 0.172000 . . 0.170000 . . 1.0E-200 0.180 0.238 . 0.100 0.006 . 0.286 . 0.259 0.172 0.142 . rs4950572 rs4950572 rs4950572 rs4950572 1 1538 10 1/0 0,204,255 +. 1 148581914 G A - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148581914 148581914 Chr1(GRCh37):g.148581914G>A 566+46 566+46 NM_001170755.2:c.566+46G>A p.? p.? 11 11 610414 46 5' 81.9751 8.87834 0.96301 1.09442 81.9751 8.87834 0.96301 0.68778 0 rs4950571 yes no Frequency 1 0.000000 0 0.000155 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003731 0.000000 1 0 0 0 0 0 0 0 1 6454 188 2190 42 770 1708 1228 60 268 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 106 Exomes transition G A G>A 0.000 -1.732 209 PASS . . . . . . . . . . . . . . . . 0.18333334 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 120.0 . . . . . . . . . . -0.7165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.35 0.23 182 ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4950571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0 0.0037 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs4950571 rs4950571 rs4950571 rs4950571 1 1538 10 1/0 0,226,255 +. 1 148581956 C T - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148581956 148581956 Chr1(GRCh37):g.148581956C>T 566+88 566+88 NM_001170755.2:c.566+88C>T p.? p.? 11 11 610414 88 5' 81.9751 8.87834 0.96301 1.09442 81.9751 8.87834 0.96301 1.09442 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6180 Genomes transition C T C>T 0.000 -1.247 188 PASS . . . . . . . . . . . . . . . . 0.13095239 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 84.0 . . . . . . . . . . -0.6581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.49 0.41 182 ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs11485976 rs11485976 rs11485976 rs11485976 1 1538 10 1/0 0,237,255 +. 1 148583845 G A - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution synonymous exon GRCh37 148583845 148583845 Chr1(GRCh37):g.148583845G>A 792 792 NM_001170755.2:c.792G>A p.Glu264= p.Glu264Glu 13 610414 20 3' 84.1916 7.72112 0.69454 VI.59 84.1916 7.72112 0.614336 6.73918 -0.0384926 COSM3677255 Haematopoietic and lymphoid tissue 0.000278 3598 transition G A G>A 0.016 0.609 E Glu GAG 0.583 E Glu GAA 0.417 264 195 PASS . . . . . . . . . . . . . . . . 0.15 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 40.0 . . . . . . . . . . -0.1186 -0.190 -0.119 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.168 . . . . 0.29 0.28 182 ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 9.999999999999999E-196 0.124 0.230 . 0.083 . . 0.298 . 0.034 . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148589730 A G - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution synonymous exon GRCh37 148589730 148589730 Chr1(GRCh37):g.148589730A>G 1110 1110 NM_001170755.2:c.1110A>G p.Ser370= p.Ser370Ser 16 610414 70 3' 88.6311 10.0629 0.93601 11.1499 88.6311 10.0629 0.93601 XI.71 0 DUF1220 0.000018 0.000000 0.000000 0.000000 0.000000 0.000177 0.000000 0.000000 0.000000 0.000177 1 0 0 0 0 1 0 0 0 56000 5416 10486 1278 7538 5638 20472 3402 1770 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.005 S Ser TCA 0.148 S Ser TCG 0.056 370 214 PASS . . . . . . . . . . . . . . . . 0.1978022 . . . 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 91.0 . . . . . . . . . . -0.5949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000243452 NBPF15 NBPF15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.141e-05 0 0 0 0 0 0 0.0002 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs11488477 rs11488477 . . 1 1538 10 1/0 0,239,255 +. 1 148592099 A G - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution synonymous exon GRCh37 148592099 148592099 Chr1(GRCh37):g.148592099A>G 1455 1455 NM_001170755.2:c.1455A>G p.Gln485= p.Gln485Gln 19 610414 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.001277 0.005920 0.000960 0.001538 0.000000 0.001016 0.001166 0.000000 0.002336 0.005920 35 11 5 1 0 4 12 0 2 27404 1858 5210 650 4252 3938 10296 344 856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 11 5 1 0 4 12 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.682 Q Gln CAA 0.256 Q Gln CAG 0.744 485 189 PASS . . . . . . . . . . . . . . . . 0.13432837 . . . 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 67.0 . . . . . . . . . . -0.4607 -0.237 -0.461 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.101 . . . . . . . ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0013 0.0010 0.0015 0 0 0.0012 0.0024 0.0010 0 0 0 . 0 0 0 0 . . 0.246 . . . . . . . . 1.0E-189 0.002 0.151 . 0.090 . . 0.102 . 0.271 . . . . . . . 1 1538 10 1/0 0,246,255 +. 1 148592130 C T - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution missense exon GRCh37 148592130 148592130 Chr1(GRCh37):g.148592130C>T 1486 1486 NM_001170755.2:c.1486C>T p.Pro496Ser p.Pro496Ser 19 610414 -5 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.979797 3.46935 0.00427961 Cryptic Acceptor Strongly Activated 148592135 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 DUF1220 transition C T C>T 0.000 -0.440 P Pro CCC 0.328 S Ser TCC 0.220 496 12 5 Dolphin -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.94 II.81 175 PASS . . . . . . . . . . . . . . . . 0.104477614 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.411 . . . . . . . 1 0.383 . . 67.0 . . . . . . . . . . -0.4155 -0.804 -0.415 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.103 . . . . 0.41 0.29 182 ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.344 . . 0.088 . . . 0.570 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.764 . . 0.916 . . . . . . 1 . . . . . . . . 0.403 . LowAF 0.01 . . . . . . . . . . . . . . . . 0.429 -0.805 . 0.100000 Q8N660 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.418 -0.418000 . . 0.100000 . . 1.0E-175 0.836 0.300 . 0.111 . . 0.255 . 0.036 -0.418 . . rs3927032 rs3927032 . . 1 1538 10 1/0 0,244,255 +. (chr1:148742748 G/T) 1 148742748 G T Not on a known gene +. (chr1:148743850 G/T) 1 148743850 G T Not on a known gene +. (chr1:148743893 C/T) 1 148743893 C T Not on a known gene +. (chr1:148743897 G/C) 1 148743897 G C Not on a known gene +. (chr1:148744001 G/A) 1 148744001 G A Not on a known gene +. (chr1:148744043 C/T) 1 148744043 C T Not on a known gene +. (chr1:148749941 A/G) 1 148749941 A G Not on a known gene +. (chr1:148750205 G/C) 1 148750205 G C Not on a known gene +. (chr1:148750940 A/C) 1 148750940 A C Not on a known gene +. (chr1:148750983 T/C) 1 148750983 T C Not on a known gene +. (chr1:148751778 A/G) 1 148751778 A G Not on a known gene +. (chr1:148806514 C/T) 1 148806514 C T Not on a known gene +. 1 148903184 G A - DRD5P2 3028 Dopamine receptor D5 pseudogene 2 NR_111001.1 1 2228 0 substitution exon GRCh37 148903184 148903184 Chr1(GRCh37):g.148903184G>A 1340 1340 NR_111001.1:n.1340G>A 1 rs2840891 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30202 8536 794 300 1600 0 14688 3340 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 114 Genomes transition G A G>A 0.992 0.367 204 PASS . . . . . . . . . . . . . . . . 0.16901408 . . . 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 284.0 . . . . . . . . . . 0.1702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . . . . . 0.47 0.41 182 ENSG00000175658 . . . dist\x3d1061\x3bdist\x3d25102 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs2840891 rs2840891 rs2840891 rs2840891 1 1538 10 1/0 0,187,255 +. 1 149290723 C T - FAM231D 49509 Family with sequence similarity 231 member D NM_001348147.1 1 3467 510 NP_001335076.1 Q6ZW35 substitution synonymous exon GRCh37 149290723 149290723 Chr1(GRCh37):g.149290723C>T 195 195 NM_001348147.1:c.195C>T p.Ser65= p.Ser65Ser 1 rs522146 yes no Frequency 1 T 0.000000 0 0.008489 0.012913 0.000000 0.003968 0.012232 0.000000 0.007984 0.002368 0.006494 0.012913 204 82 0 1 16 0 93 7 5 24032 6350 748 252 1308 0 11648 2956 770 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 204 82 0 1 16 0 93 7 5 0 0 0 0 0 0 0 0 0 RF 67 Genomes transition C T C>T 0.000 -0.924 S Ser AGC 0.243 S Ser AGT 0.149 65 220 PASS . . . . . . . . . . . . . . . . 0.21568628 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . 0.43 0.33 182 ENSG00000235999 BC023516 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140656994 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0129 0.0085 0 0.0040 0.0122 0.0024 0.0080 0.0065 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.011 rs522146 rs522146 rs522146 rs140656994 1 1538 10 1/0 0,255,255 +. 1 149290991 A G - FAM231D 49509 Family with sequence similarity 231 member D NM_001348147.1 1 3467 510 NP_001335076.1 Q6ZW35 substitution missense exon GRCh37 149290991 149290991 Chr1(GRCh37):g.149290991A>G 463 463 NM_001348147.1:c.463A>G p.Ile155Val p.Ile155Val 1 rs200773965 yes no Frequency 1 A 0.000000 0 0.001993 0.001103 0.000000 0.007576 0.000000 0.000000 0.003145 0.000614 0.002257 0.007576 55 9 0 2 0 0 40 2 2 27600 8156 754 264 1564 0 12720 3256 886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 9 0 2 0 0 40 2 2 0 0 0 0 0 0 0 0 0 RF 83 Genomes transition A G A>G 0.000 0.367 I Ile ATC 0.481 V Val GTC 0.240 155 8 8 Olive baboon 3 3 4 0 0 5.II 5.IX 111 84 29 C25 0.00 28.68 Deleterious 0 IV.32 196 PASS . . . . . . . . . . . . . . . . 0.15 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 80.0 . . . . . . . . . . -0.2605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . 0.48 0.31 182 ENSG00000235999 BC023516 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200773965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0020 0 0.0076 0 0.0006 0.0031 0.0023 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . rs71269347 rs71269347 rs200773965 1 1538 10 1/0 0,240,255 +. 1 149379664 C T - FCGR1CP 3615 Fc fragment of IgG receptor Ic, pseudogene NR_027484.2 1 1344 0 substitution downstream GRCh37 149379664 149379664 Chr1(GRCh37):g.149379664C>T *1361 *1361 NR_027484.2:n.*1361C>T p.? p.? 6 601503 1809 3' 99.5701 13.3653 0.996552 10.1887 99.5701 13.3653 0.996552 10.1887 0 rs17838254 no no 0 T 0.000000 0 0.000071 0.000000 0.000000 0.000000 0.000000 0.000000 0.000075 0.000321 0.000000 0.000321 2 0 0 0 0 0 1 1 0 28264 8398 760 284 1536 0 13280 3112 894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition C T C>T 0.000 -2.054 111 PASS . . . . . . . . . . . . . . . . 1.0 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 7.0 . . DOWNSTREAM(MODIFIER||||FCGR1C|Non-coding_transcript|NON_CODING|NR_027484|) . . . . . . . -0.1578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . . . . . 0.47 0.47 182 ENSG00000240929 . . . dist\x3d1367\x3bdist\x3d19051 dist\x3d1361\x3bdist\x3d134426 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs17838254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.076e-05 0 0 0 0.0003 7.53e-05 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs17838254 rs17838254 rs17838254 rs17838254 1 1538 255 1.I 0,0,255 +. 1 149552999 A C - PPIAL4C 33995 Peptidylprolyl isomerase A (cyclophilin A)-like 4C NM_001135789.2 1 785 495 NP_001129261.1 Q9Y536 substitution upstream GRCh37 149552999 149552999 Chr1(GRCh37):g.149552999A>C -79 -79 NM_001135789.2:c.-79A>C p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A C A>C 0.008 -1.167 111 PASS 0.93 0.88 0.85 0.75 0.94 . . . . . . . . . . . 1.0 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 19.0 . . . . . . . . . . -0.6491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . . . . . 0.46 0.05 182 ENSG00000198161 PPIAL4B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs138613319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.94 rs2814238 rs2814238 rs2814238 rs138613319 1 1538 255 1.I 0,0,255 +. 1 149665271 A T - LINC00869 29050 Long intergenic non-protein coding RNA 869 NR_046135.1 1 1205 0 substitution intron GRCh37 149665271 149665271 Chr1(GRCh37):g.149665271A>T 440-4938 440-4938 NR_046135.1:n.440-4938A>T p.? p.? 2 1 -4938 3' 92.383 10.0217 0.967506 4.185 92.383 10.0217 0.967506 4.185 0 transversion A T A>T 0.016 0.609 222 PASS . . . . . . . . . . . . . . . . 0.2189781 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 137.0 . . . . . . . . . . -0.1666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000234232 LINC00869 LOC103091866 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 1 149813866 G A - HIST2H2AA3 4736 Histone cluster 2, H2aa3 NM_003516.2 -1 534 393 NP_003507.1 Q6FI13 substitution 3'UTR GRCh37 149813866 149813866 Chr1(GRCh37):g.149813866G>A *7 *7 NM_003516.2:c.*7C>T p.? p.? 1 142720 rs200138530 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS 0.4 0.12 0.06 0.01 0.04 . . . . . . . . . . . 0.5625 . . . 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.67 0.57 182 ENSG00000183558 HIST2H2AA4 . ENST00000369161:c.*7C>T uc001esw.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 rs2873870 rs2873870 rs2873870 rs200138530 1 1538 10 1/0 0,242,246 +. 1 149813866 G A - HIST2H2AA4 29668 Histone cluster 2, H2aa4 NM_001040874.1 -1 534 393 NP_001035807.1 Q6FI13 substitution 3'UTR GRCh37 149813866 149813866 Chr1(GRCh37):g.149813866G>A *7 *7 NM_001040874.1:c.*7C>T p.? p.? 1 rs200138530 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS 0.4 0.12 0.06 0.01 0.04 . . . . . . . . . . . 0.5625 . . . 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.67 0.57 182 ENSG00000183558 HIST2H2AA4 . ENST00000369161:c.*7C>T uc001esw.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 rs2873870 rs2873870 rs2873870 rs200138530 1 1538 10 1/0 0,242,246 +. 1 149813866 G A - HIST2H3A 20505 Histone cluster 2, H3a NM_001005464.2 -1 507 411 NP_001005464.1 Q71DI3 substitution upstream GRCh37 149813866 149813866 Chr1(GRCh37):g.149813866G>A -1137 -1137 NM_001005464.2:c.-1137C>T p.? p.? 1 rs200138530 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS 0.4 0.12 0.06 0.01 0.04 . . . . . . . . . . . 0.5625 . . . 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.67 0.57 182 ENSG00000183558 HIST2H2AA4 . ENST00000369161:c.*7C>T uc001esw.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 rs2873870 rs2873870 rs2873870 rs200138530 1 1538 10 1/0 0,242,246 +. 1 149813866 G A - HIST2H3C 20503 Histone cluster 2, H3c NM_021059.2 -1 507 411 NP_066403.2 Q71DI3 substitution upstream GRCh37 149813866 149813866 Chr1(GRCh37):g.149813866G>A -1137 -1137 NM_021059.2:c.-1137C>T p.? p.? 1 142780 rs200138530 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS 0.4 0.12 0.06 0.01 0.04 . . . . . . . . . . . 0.5625 . . . 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.67 0.57 182 ENSG00000183558 HIST2H2AA4 . ENST00000369161:c.*7C>T uc001esw.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 rs2873870 rs2873870 rs2873870 rs200138530 1 1538 10 1/0 0,242,246 +. 1 149823080 C T - HIST2H2BC 20516 Histone cluster 2, H2bc (pseudogene) NR_036461.1 -1 582 0 substitution upstream GRCh37 149823080 149823080 Chr1(GRCh37):g.149823080C>T -740 -740 NR_036461.1:n.-740G>A p.? p.? 1 transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.45714286 . . . 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 140.0 . . . . . . . . . . 0.0745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.64 0.67 182 ENSG00000203812 HIST2H2AA4 . ENST00000369159:c.*7C>T uc001esx.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2873870 rs2873870 rs2873870 rs2873870 1 1538 10 1/0 0,245,255 +. 1 150256879 G A - CIART 25200 Circadian associated repressor of transcription NM_001300838.1 1 1443 1158 NP_001287767.1 Q8N365 substitution synonymous exon GRCh37 150256879 150256879 Chr1(GRCh37):g.150256879G>A 486 486 NM_001300838.1:c.486G>A p.Gln162= p.Gln162Gln 4 615782 -36 5' 87.9846 9.65245 0.997356 0.636011 87.9846 9.65245 0.997356 0.500105 0 Cryptic Acceptor Strongly Activated 150256890 0.61319 0.108426 5.02185 0.104329 71.9673 rs137955605 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.001000 0.007200 0.003629 0.000957 0.001627 0.000099 0.000000 0.000162 0.006787 0.001590 0.003093 0.006787 1006 23 56 1 0 5 860 41 20 277234 24032 34420 10152 18870 30782 126718 25794 6466 0.000094 0.000000 0.000058 0.000000 0.000000 0.000000 0.000158 0.000078 0.000309 13 0 1 0 0 0 10 1 1 980 23 54 1 0 5 840 39 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4399 12949 50 7 57 0.00581395 0.00158874 0.00438259 0.00581395 0.00158874 0.00438259 197 transition G A G>A 1.000 0.932 Q Gln CAG 0.744 Q Gln CAA 0.256 162 255 PASS . 0.0018 0.01 . 0.0026 . 0.0012 0.0072 . 0.001 . . . . . . 0.46938777 . . . 23 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . . . . . . . 2 . . . 49.0 . . . 0.0016 0.0044 0.0058 0.0016 0.0044 0.0058 . I.45 . . . . . . . . 3.275e-03 . . . 0.0010 0.0027 0.0017 0 0.0011 0.0050 0.0028 0.0002 0.0009 0.0029 0.0017 0 0.0009 0.0051 0.0014 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.32 0.25 182 ENSG00000159208 C1orf51 CIART . . . . . . 304 0.00467865 64976 298 0.00496783 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . rs137955605 . . . . . . . . . . . . . . . . . . . . . . . 0.004383 . . . . 2.XII 0.0007 0.0035 0.0017 0.0001 0 0.0017 0.0066 0.0031 0.0002 0.0014 0.0047 0 0 0 0.0009 0.0085 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs137955605 rs137955605 1 1538 10 1/0 0,255,255 +. 1 150300948 C G - PRPF3 17348 Pre-mRNA processing factor 3 NM_004698.3 1 2474 2052 NP_004689.1 O43395 substitution intron GRCh37 150300948 150300948 Chr1(GRCh37):g.150300948C>G 423+23 423+23 NM_004698.3:c.423+23C>G p.? p.? 4 4 607301 23 5' 90.1244 8.02288 0.990309 5.00043 90.1244 8.02288 0.990309 5.48905 0 rs200909078 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000102 0.000000 0.000060 0.000000 0.000000 0.000000 0.000206 0.000000 0.000000 0.000206 25 0 2 0 0 0 23 0 0 245880 15278 33570 9848 17236 30776 111630 22060 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 2 0 0 0 23 0 0 0 0 0 0 0 0 0 0 0 PASS 85 Exomes transversion C G C>G 0.425 0.851 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.42105263 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||PRPF3|mRNA|CODING|NM_004698|) . . . . . . . 1.0915 . . . . . . . . 1.184e-04 . . . 0 6.652e-05 0 0 0 0.0001 0 0 0 0.0001 0 0 0 0.0003 0 0 . . . . . . intronic UTR3 intronic . . . . . . . 0.47 0.21 182 ENSG00000117360 PRPF3 PRPF3 . uc009wlo.3:c.*11C>G . . . . 5 7.69515e-05 64976 4 6.66822e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831548 . . . . . III.44 0 0.0001 5.958e-05 0 0 0 0.0002 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200909078 rs200909078 1 1538 10 1/0 0,255,255 +. 1 150531581 C T - ADAMTSL4 19706 ADAMTS-like 4 NM_001288608.1 1 4324 3294 NP_001275537.1 substitution synonymous exon GRCh37 150531581 150531581 Chr1(GRCh37):g.150531581C>T 2772 2772 NM_001288608.1:c.2772C>T p.Arg924= p.Arg924Arg 17 610113 -61 5' 91.1667 9.84565 0.992084 9.08818 91.1667 9.84565 0.992084 8.35671 0 Cryptic Acceptor Strongly Activated 150531590 5.35923 0.042232 71.5358 6.49037 0.104357 74.2476 rs139006349 yes no Frequency 1 C uncertain_significance 0.000000 0 0.000021 0.000000 0.000030 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 0.000037 5 0 1 0 0 0 4 0 0 241902 14698 33496 9748 17186 30732 109100 21542 5400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 105 Exomes 8585 4394 12979 1 0 1 0.000116469 0 7.70416e-05 0.000116469 0 7.70416e-05 17 RCV000389068.1 germline clinical testing VUS 1 Ectopia lentis transition C T C>T 0.189 -1.570 R Arg CGC 0.190 R Arg CGT 0.082 924 255 PASS . . . . . . . . . . . . . . . . 0.47126436 . . . 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . Uncertain_significance RCV000389068.1 Ectopia_lentis MedGen:Orphanet:SNOMED_CT C0013581:ORPHA1885:74969002 2 . . . 87.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.6051 . . . . . . . . 1.582e-05 . . . 0 2.424e-05 0 0 0 5.359e-05 0 0 0 2.039e-05 0 0 0 3.942e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.42 0.39 182 ENSG00000143382 ADAMTSL4 ADAMTSL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs139006349 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527379 0.000077 . . . . . 0 2.067e-05 2.985e-05 0 0 0 3.666e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs139006349 rs139006349 1 1538 10 1/0 0,255,255 +. 1 150531581 C T - ADAMTSL4-AS1 32041 ADAMTSL4 antisense RNA 1 NR_104133.1 -1 1036 0 substitution downstream GRCh37 150531581 150531581 Chr1(GRCh37):g.150531581C>T *1790 *1790 NR_104133.1:n.*1790G>A p.? p.? 4 2118 3' 82.9474 4.73652 0.851556 3.16752 82.9474 4.73652 0.851556 3.16752 0 rs139006349 yes no Frequency 1 C uncertain_significance 0.000000 0 0.000021 0.000000 0.000030 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 0.000037 5 0 1 0 0 0 4 0 0 241902 14698 33496 9748 17186 30732 109100 21542 5400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 105 Exomes 8585 4394 12979 1 0 1 0.000116469 0 7.70416e-05 0.000116469 0 7.70416e-05 17 RCV000389068.1 germline clinical testing VUS 1 Ectopia lentis transition G A G>A 0.189 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.47126436 . . . 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . Uncertain_significance RCV000389068.1 Ectopia_lentis MedGen:Orphanet:SNOMED_CT C0013581:ORPHA1885:74969002 2 . . . 87.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.6051 . . . . . . . . 1.582e-05 . . . 0 2.424e-05 0 0 0 5.359e-05 0 0 0 2.039e-05 0 0 0 3.942e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.42 0.39 182 ENSG00000143382 ADAMTSL4 ADAMTSL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs139006349 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527379 0.000077 . . . . . 0 2.067e-05 2.985e-05 0 0 0 3.666e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs139006349 rs139006349 1 1538 10 1/0 0,255,255 +. 1 150971949 G A - MINDY1 25648 MINDY lysine 48 deubiquitinase 1 NM_001163258.1 -1 2239 1554 NP_001156730.1 substitution stop gain exon GRCh37 150971949 150971949 Chr1(GRCh37):g.150971949G>A 1021 1021 NM_001163258.1:c.1021C>T p.Gln341* p.Gln341* 8 39 3' 89.3632 8.35895 0.881369 XI.84 89.3632 8.35895 0.881369 11.1428 0 rs138246511 yes no Frequency 1 G 0.000000 0 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 149 transition C T C>T 1.000 5.371 Q Gln CAG 0.744 * * TAG 0.234 341 255 PASS . . . . . . . . . . . . . . . . 0.44927537 . . . 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.985 . . . . . . . 0 0.839 . . 69.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . I.21 1.068 1.222 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.699 . . . . 0.6 0.6 182 ENSG00000143409 FAM63A FAM63A . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . 0.814 . . . HET 0.01 rs138246511 . . . . . . . . . . . . 16.156 0.0 . V.14 V.14 . 0.020000 . . . . 0.000077 . 0.726 . . V.14 . . . . . . . . . . . . . . . . . . . 0.730 . 2.687 2.687000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.345 0.715 . 0.997 . 0.713 2.687 0.917 0.0001 . . rs138246511 rs138246511 1 1538 10 1/0 0,255,255 +. 1 151016150 C G - BNIPL 16976 BCL2/adenovirus E1B 19kD interacting protein like NM_138278.3 1 2160 1074 NP_612122.2 Q7Z465 substitution synonymous exon GRCh37 151016150 151016150 Chr1(GRCh37):g.151016150C>G 798 798 NM_138278.3:c.798C>G p.Ala266= p.Ala266Ala 7 611275 -54 5' 78.3398 7.39555 0.904033 5.21313 78.3398 7.39555 0.904033 5.79263 0 CRAL-TRIO domain rs144766190 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.002193 0.000583 0.000465 0.000296 0.000000 0.000260 0.004159 0.001008 0.002165 0.004159 608 14 16 3 0 8 527 26 14 277216 24034 34416 10150 18866 30780 126714 25790 6466 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 600 14 16 3 0 8 519 26 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8568 4402 12970 32 4 36 0.00372093 0.000907853 0.00276795 0.00372093 0.000907853 0.00276795 108 transversion C G C>G 1.000 1.981 A Ala GCC 0.403 A Ala GCG 0.107 266 255 PASS . 0.0009 0.01 . . . 0.0002 0.0014 . . . . . . . . 0.5060241 . . . 42 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 83.0 . . . 0.0009 0.0028 0.0037 0.0009 0.0028 0.0037 . I.32 . . . . . . . . 1.878e-03 . . . 0.0006 0.0017 0.0003 0 0.0008 0.0031 0.0028 0.0004 0.0006 0.0016 0.0004 0 0.0006 0.0027 0.0014 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.46 0.25 182 ENSG00000163141 BNIPL BNIPL . . . . . . 191 0.00293955 64976 190 0.00316741 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144766190 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522840 0.002768 . . . . II.94 0.0005 0.0021 0.0005 0.0003 0 0.0011 0.0040 0.0020 0.0003 0.0007 0.0030 0 0 0 0.0006 0.0055 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144766190 rs144766190 1 1538 10 1/0 0,255,255 +. 1 151584734 T TGGC - SNX27 20073 Sorting nexin family member 27 NM_030918.5 1 7085 1587 NP_112180.4 duplication in-frame exon GRCh37 151584748 151584749 Chr1(GRCh37):g.151584746_151584748dup 69 71 NM_030918.5:c.69_71dup p.Gly25dup p.Gly25dup 1 611541 -240 5' 71.0072 6.04897 0.62157 9.60709 71.0072 6.04897 0.62157 9.60709 0 rs567208173 yes no Frequency/1000G 2 0.000599 GGC 3 0.000599 0.000800 0.000000 0.000000 0.001000 0.001400 0.004485 0.001174 0.000954 0.000707 0.000000 0.001198 0.004645 0.012674 0.008374 0.012674 349 12 7 2 0 10 146 155 17 77818 10220 7334 2830 3390 8350 31434 12230 2030 0.000026 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000000 0.000000 1 0 0 0 0 0 1 0 0 347 12 7 2 0 10 144 155 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4702 1844 6546 18 5 23 0.00381356 0.00270416 0.00350129 0.00381356 0.00270416 0.00350129 3 CGG 255 Pass . . . . . 0.0008 0.0006 0.0014 . 0.001 . . SNX27:uc001eyn.1:exon1:c.57_58insGGC:p.G19delinsGG SNX27:NM_030918:exon1:c.57_58insGGC:p.G19delinsGG . . 0.2777778 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 90 . . CODON_INSERTION(MODERATE||-/GGC|-20G|SNX27|mRNA|CODING|NM_030918|NM_030918.ex.1) . . . 0.0027 0.0035 0.0038 . . . . . . . . . . . . . . 0 0.0029 0.0217 0 0 0.0043 0 0.0025 0 0.0055 0.025 0 0.0167 0.0107 0 0.0025 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000143376 SNX27 SNX27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs567208173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0038 0.0009 0 0 0.0123 0.0030 0.0066 0.0012 0.0014 0.0055 0.0012 0.0067 0 0.0136 0.0064 0.0103 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,56 +. 1 151747696 T C - TDRKH 11713 Tudor and KH domain containing NM_006862.3 -1 2330 1686 NP_006853.2 substitution intron GRCh37 151747696 151747696 Chr1(GRCh37):g.151747696T>C 1435-54 1435-54 NM_006862.3:c.1435-54A>G p.? p.? 11 10 609501 -54 3' 92.5697 X.66 0.991995 8.30609 92.5697 X.66 0.991995 8.35176 0 New Acceptor Site 151747695 XI.22 0.988388 86.1365 rs143320374 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002358 0.000573 0.000000 0.000000 0.000000 0.000000 0.003667 0.003150 0.002037 0.003667 73 5 0 0 0 0 55 11 2 30958 8728 838 302 1618 0 14998 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 73 5 0 0 0 0 55 11 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -0.682 255 PASS . 0.0018 . . 0.01 . 0.0006 . . 0.003 . . . . . . 0.6 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45.0 . . . . . . . . . . 0.1261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . 0.27 0.39 182 ENSG00000182134 TDRKH TDRKH . . . . . . 180 0.00277025 64976 177 0.00295069 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs143320374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0024 0 0 0 0.0032 0.0037 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs143320374 rs143320374 1 1538 10 1/0 0,255,255 +. 1 152129087 T C - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution missense exon GRCh37 152129087 152129087 Chr1(GRCh37):g.152129087T>C 488 488 NM_001122965.1:c.488A>G p.Lys163Arg p.Lys163Arg 3 613259 350 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 rs78544048 yes no Frequency/1000G 2 T 0.000000 0 0.274760 0.221600 0.279100 0.299600 0.177900 0.474100 0.000110 0.000853 0.000000 0.000000 0.000000 0.000033 0.000117 0.000000 0.000000 0.000853 27 13 0 0 0 1 13 0 0 245720 15248 33550 9822 17240 30768 111334 22284 5474 0.111111 0.076923 0.000000 0.000000 0.000000 0.000000 0.153846 0.000000 0.000000 3 1 0 0 0 0 2 0 0 21 11 0 0 0 1 9 0 0 0 0 0 0 0 0 0 0 0 PASS 310 Exomes 6741 2911 9652 403 221 624 0.056411 0.0705619 0.060724 0.056411 0.0705619 0.060724 420 COSM3927612|COSM3927612 Prostate|Haematopoietic and lymphoid tissue 0.002268|0.000283 1764|3530 transition A G A>G 0.000 -0.763 K Lys AAA 0.425 R Arg AGA 0.205 163 11 5 Rat 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 81.64 0.00 Tolerated 1 III.52 good 9.963E-1 0.04538 255 PASS 0.18 0.23 0.35 0.27 0.17 0.22 0.27 0.47 0.3 0.18 0.28 ENSG00000215853:ENST00000316073:exon3:c.A488G:p.K163R RPTN:uc001ezs.1:exon3:c.A488G:p.K163R RPTN:NM_001122965:exon3:c.A488G:p.K163R . . 0.51741296 . . . 104 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . . . . . . . 1 0.006 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K163R|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) 0.071 0.061 0.056 0.071 0.061 0.056 . -1.9967 -1.927 -1.997 c . . . . . 2.296e-04 . . . 0.0011 0.0003 0.0009 0 0 0.0002 0 0.0002 0.0012 0.0003 0.0009 0 0 0.0001 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.129 . . exonic exonic exonic . . 0.037 . . ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.23 0.28 182 ENSG00000215853 RPTN RPTN . . . 0.393 0.201 . 12938 0.19912 64976 11571 0.192895 59986 Benign . 0 . 0.111 . . . . . . . . . 37 . 0.005 . . 0.388 . . . 0.009 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.039 . . 0 0 0 0 . 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.159 . 0.000 . HET 1 rs78544048 0.196 0.167 . . . . . 0.22847985347985347 0.18292682926829268 0.35082872928176795 0.2727272727272727 0.1662269129287599 V.28 0.04346 ENST00000316073 IV.82 -4.06 . 0.690000 Q6XPR3 . . . 0.060724 . 0.014 . . . 0.0009 0.0001 0 0 0 0 0.0001 0 3.25e-05 . . . . . . . . . . 0.133 . -1.459 -1.459000 . . 0.690000 . . 1.0E-255 0.000 0.063 . 0.016 0.685 . 0.079 . 0.017 -1.459 -1.062 0.35 . . rs78544048 rs78544048 1 1538 10 1/0 0,230,244 +. 1 152129094 A G - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution missense exon GRCh37 152129094 152129094 Chr1(GRCh37):g.152129094A>G 481 481 NM_001122965.1:c.481T>C p.Ser161Pro p.Ser161Pro 3 613259 343 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 rs76015112 yes no Frequency/1000G 2 A 0.000000 0 0.274760 0.221600 0.279100 0.299600 0.177900 0.474100 0.000101 0.000588 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 0.000588 28 14 0 0 0 0 14 0 0 276228 23812 34378 10120 18834 30762 126122 25758 6442 0.000022 0.000084 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 3 1 0 0 0 0 2 0 0 22 12 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6818 2948 9766 318 178 496 0.0445628 0.0569418 0.0483337 0.0445628 0.0569418 0.0483337 423 COSM3927613|COSM3927613|COSM3927613 Thyroid|Prostate|Haematopoietic and lymphoid tissue 0.001339|0.002268|0.000283 747|1764|3530 transition T C T>C 0.000 -1.086 S Ser TCT 0.185 P Pro CCT 0.283 161 11 7 Megabat -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 244.82 0.00 Tolerated 0.28 III.80 good 2.726E-1 0.2174 255 PASS 0.09 0.16 0.29 0.23 0.1 0.22 0.27 0.47 0.3 0.18 0.28 ENSG00000215853:ENST00000316073:exon3:c.T481C:p.S161P RPTN:uc001ezs.1:exon3:c.T481C:p.S161P RPTN:NM_001122965:exon3:c.T481C:p.S161P . . 0.47263682 . . . 95 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.013 . . . . . . . 1 0.037 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S161P|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) 0.057 0.048 0.045 0.057 0.048 0.045 . -2.1418 -2.216 -2.142 c . . . . . 2.352e-04 . . . 0.0011 0.0003 0.0009 0 0 0.0002 0 0.0002 0.0013 0.0003 0.0010 0 0 0.0001 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.144 . . exonic exonic exonic . . 0.014 . . ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.24 0.31 182 ENSG00000215853 RPTN RPTN . . . 0.975 0.296 . 12951 0.19932 64976 11584 0.193112 59986 Benign . 0 . 0.089 . . . . . . . . . 37 . 0.018 . . 0.402 . . . 0.163 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.584 . . 0 0 0 0 . 0 . 0.119 . . 0.093 . . . . . . 0 0.276 . . . . . 0.023 . 0.008 . HET 0 rs76015112 0.196 0.167 . . . . . 0.16483516483516483 0.09146341463414634 0.2900552486187845 0.23076923076923078 0.10290237467018469 I.68 0.034264 ENST00000316073 IV.57 -7.09 . 0.230000 Q6XPR3 . . . 0.048334 . 0.052 . . . 0.0008 0.0001 0 0 0 0 0.0001 0 0 0.0002 6.546e-05 0 0 0 0 0 0 . . 0.133 . -2.026 -2.026000 . . 0.230000 . . 1.0E-255 0.000 0.063 . 0.043 0.761 . 0.030 . 0.001 -2.026 -0.123 0.29 . . rs76015112 rs76015112 1 1538 10 1/0 0,229,252 +. 1 152129100 C T - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution missense exon GRCh37 152129100 152129100 Chr1(GRCh37):g.152129100C>T 475 475 NM_001122965.1:c.475G>A p.Gly159Ser p.Gly159Ser 3 613259 337 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 New Acceptor Site 152129098 0.306447 0.023097 68.3521 rs200003389 yes no Frequency 1 C 0.000000 0 7133 3128 10261 1 0 1 0.000140174 0 9.74469e-05 0.000140174 0 9.74469e-05 427 COSM1626443|COSM1626443|COSM1626443|COSM1626443|COSM1626443 Thyroid|Soft tissue|Prostate|Liver|Large intestine 0.002677|0.009191|0.001134|0.001687|0.000901 747|544|1764|2371|2220 transition G A G>A 0.000 -0.037 G Gly GGT 0.162 S Ser AGT 0.149 159 11 7 Megabat 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Tolerated 0.3 III.80 good 9.648E-1 0.08443 205 PASS . . . . . . . . . . . ENSG00000215853:ENST00000316073:exon3:c.G475A:p.G159S RPTN:uc001ezs.1:exon3:c.G475A:p.G159S RPTN:NM_001122965:exon3:c.G475A:p.G159S . . 0.2 . . . 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.077 . . . . . . . 1 0.049 . . 180.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G159S|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) . 0.0001 0.0001 . 0.0001 0.0001 . -0.8876 -1.040 -0.888 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.102 . . . . 0.18 0.34 182 ENSG00000215853 RPTN RPTN . . . 0.066 0.154 . . . . . . . Uncertain_significance . 0 . 0.140 . . . . T 0.117 0.005 . . 37 . 0.026 . . 0.393 . . . 0.193 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.439 . . 0 0 0 0 . 0 . 0.472 . . 0.383 . . . . . . 0 0.257 . . . . . 0.106 . 0.003 . HET 0.32 rs200003389 . . . . . . . . . . . . IV.11 . ENST00000316073 IV.57 -0.815 . 0.230000 Q6XPR3 . . . 0.000097 . 0.071 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.522 -0.522000 . . 0.230000 . . 1.0E-205 0.000 0.063 . 0.016 0.900 . 0.074 . 0.002 -0.522 -0.512 0.0001 . . rs200003389 rs200003389 1 1538 10 1/0 0,211,255 +. 1 152129101 A G - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution synonymous exon GRCh37 152129101 152129101 Chr1(GRCh37):g.152129101A>G 474 474 NM_001122965.1:c.474T>C p.His158= p.His158His 3 613259 336 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 Cryptic Donor Strongly Activated 152129100 6.56754 0.87826 81.2997 8.02041 0.970732 80.8966 rs117596468 yes no Frequency/1000G 2 A 0.000000 0 0.000105 0.000126 0.000000 0.000000 0.000000 0.000000 0.000206 0.000000 0.000000 0.000206 29 3 0 0 0 0 26 0 0 276338 23838 34382 10120 18840 30770 126186 25756 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 3 0 0 0 0 26 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1626444|COSM1626444|COSM1626444|COSM1626444|COSM1626444 Thyroid|Prostate|Liver|Large intestine|Central nervous system 0.002677|0.000567|0.000844|0.001351|0.000416 747|1764|2371|2220|2405 transition T C T>C 0.000 -0.279 H His CAT 0.413 H His CAC 0.587 158 214 PASS 0.02 0.05 0.11 0.06 0.03 . . . . . . ENSG00000215853:ENST00000316073:exon3:c.T474C:p.H158H RPTN:uc001ezs.1:exon3:c.T474C:p.H158H RPTN:NM_001122965:exon3:c.T474C:p.H158H . . 0.19473684 . . . 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 190.0 . . SYNONYMOUS_CODING(LOW|SILENT|caT/caC|H158|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) . . . . . . . -0.1662 . . . . . . . . 1.444e-04 . . . 0.0004 0.0002 0.0001 0 0 0.0002 0 7.433e-05 0.0004 0.0001 0.0001 0 0 0.0001 0 7.477e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.2 0.33 182 ENSG00000215853 RPTN RPTN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117596468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 9.767e-05 0 0 0 0 0.0002 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . 0.11 . . rs117596468 rs117596468 1 1538 10 1/0 0,207,255 +. 1 152129115 T C - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution missense exon GRCh37 152129115 152129115 Chr1(GRCh37):g.152129115T>C 460 460 NM_001122965.1:c.460A>G p.Arg154Gly p.Arg154Gly 3 613259 322 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 rs113327860 yes no Frequency 1 T 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 0.000000 0.000057 1 0 0 0 0 1 0 0 0 150592 10566 10774 3780 9740 17642 77754 17194 3142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 325 Exomes 7144 3133 10277 20 3 23 0.00279174 0.000956633 0.00223301 0.00279174 0.000956633 0.00223301 505 COSM1498488|COSM1498488|COSM1498488|COSM1498488|COSM1498488 Upper aerodigestive tract|Thyroid|Lung|Liver|Large intestine 0.000804|0.005355|0.000837|0.000844|0.000901 1244|747|2389|2371|2220 transition A G A>G 0.000 -1.409 R Arg AGA 0.205 G Gly GGA 0.246 154 11 8 Megabat -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C15 56.64 86.56 Deleterious 0.01 III.52 bad 8.06E-4 0.001412 208 PASS . . . . . . . . . . . ENSG00000215853:ENST00000316073:exon3:c.A460G:p.R154G RPTN:uc001ezs.1:exon3:c.A460G:p.R154G RPTN:NM_001122965:exon3:c.A460G:p.R154G . . 0.17821783 . . . 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.271 . . . . . . . 1 0.160 . . 202.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R154G|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) 0.001 0.0022 0.0028 0.001 0.0022 0.0028 . -1.0272 -1.292 -1.027 c . . . . . . . . . 0.0003 3.465e-05 0 0 0 0 0 0 0.0003 2.858e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.143 . . exonic exonic exonic . . 0.005 . . . . 0.25 0.31 182 ENSG00000215853 RPTN RPTN . . . 1.000 0.424 . 4999 0.0769361 64976 4735 0.0789351 59986 Uncertain_significance . 0 . 0.078 . . . . T 0.161 0.006 . . 37 . 0.051 . . 0.082 . . . 0.662 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.611 . . 0 0 0 0 . 0 . 0.412 . . 0.384 . . . . . . 0 0.538 . . . . . 0.156 . 0.146 . HET 0.02 rs113327860 . . . . . . . . . . . . V.46 8.42E-4 ENST00000316073 V.18 -9.31 . 0.150000 Q6XPR3 . . . 0.002233 . 0.120 . . . 0 6.64e-06 0 0 0 0 0 0 5.668e-05 . . . . . . . . . . 0.133 . -1.180 -1.180000 . . 0.150000 . . 9.999999999999999E-209 0.000 0.063 . 0.095 0.946 . 0.112 . 0.159 -1.180 0.991 0.0028 . . rs113327860 rs113327860 1 1538 10 1/0 0,203,255 +. 1 152188212 C T - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152188212 152188212 Chr1(GRCh37):g.152188212C>T 5893 5893 NM_001009931.2:c.5893G>A p.Gly1965Ser p.Gly1965Ser 3 616293 5755 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 rs4248393 no no 0 C 0.000000 0 0.002231 0.000656 0.003368 0.000000 0.023969 0.001090 0.000207 0.000438 0.000793 0.023969 603 15 112 0 401 33 26 11 5 270264 22882 33252 10118 16730 30276 125560 25140 6306 0.000015 0.000000 0.000000 0.000000 0.000239 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 599 15 112 0 397 33 26 11 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.528 G Gly GGC 0.342 S Ser AGC 0.243 1965 7 4 Tree shrew 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 215.19 III.24 Tolerated 0.35 III.61 186 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.G5893A:p.G1965S HRNR:uc001ezt.2:exon3:c.G5893A:p.G1965S HRNR:NM_001009931:exon3:c.G5893A:p.G1965S . . 0.1263048 . . . 121 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.220 . . . . . . . 1 0.083 . . 958.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1965S|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -0.8121 -0.957 -0.812 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.045 . . exonic exonic exonic . . 0.153 . . . . 0.45 0.32 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.071 0.003 . . 37 . 0.008 . . 0.468 . . . 0.778 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 . 0 . 0.622 . . 0.405 . . . . . . 0 0.285 . . . . . 0.249 . 0.179 . LowAF 0.59 rs4248393 . . . . . . . . . . . . VII.35 . ENST00000368801 III.39 0.367 . 0.500000 Q86YZ3 . . . . . 0.064 . . . 0.0004 0.0023 0.0033 0 0.0246 0 0.0002 0.0006 0.0011 0.0012 0.0017 0.0094 0 0.0144 0.0038 0.0003 0.0023 . . 0.246 . -0.027 -0.027000 . . 0.500000 . . 1.0E-186 0.000 0.063 . 0.016 0.009 . 0.002 . 0.014 -0.027 0.871 . . . rs4248393 rs4248393 1 1538 10 1/0 0,131,222 +. 1 152188262 C A - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152188262 152188262 Chr1(GRCh37):g.152188262C>A 5843 5843 NM_001009931.2:c.5843G>T p.Ser1948Ile p.Ser1948Ile 3 616293 5705 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 Cryptic Acceptor Strongly Activated 152188255 0.002511 4.40168 0.051502 74.6334 rs368306077 yes no Frequency 1 C 0.000000 0 0.000118 0.000179 0.000030 0.000000 0.000000 0.000000 0.000177 0.000117 0.000315 0.000179 32 4 1 0 0 0 22 3 2 270244 22338 33626 10056 17682 30348 124154 25692 6348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 4 1 0 0 0 22 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8035 3841 11876 1 1 2 0.00012444 0.000260281 0.000168379 0.00012444 0.000260281 0.000168379 167 transversion G T G>T 0.000 1.174 S Ser AGC 0.243 I Ile ATC 0.481 1948 7 4 Cat -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C0 135.70 75.99 Tolerated 0.07 III.58 180 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.G5843T:p.S1948I HRNR:uc001ezt.2:exon3:c.G5843T:p.S1948I HRNR:NM_001009931:exon3:c.G5843T:p.S1948I . . 0.112094395 . . . 114 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.188 . . . . . . . 1 0.093 . . 1017.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aTc|S1948I|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) 0.0003 0.0002 0.0001 0.0003 0.0002 0.0001 . -0.3365 -0.568 -0.337 c . . . . . 1.270e-03 . . . 0.0007 0.0010 0.0005 0 0 0.0015 0 0.0008 0.0008 0.0011 0.0006 0 0.0002 0.0016 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.021 . . exonic exonic exonic . . 0.280 . . . . 0.43 0.34 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.019 . . 0.503 . . . 0.543 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.534 . . 0 0 0 0 . 0 . 0.548 . . 0.537 . . . . . . 0 0.555 . . . . . 0.139 . 0.406 . LowAF 0.05 rs368306077 . . . . . . . . . . . . 5.0882 2.94E-4 ENST00000368801 II.35 II.35 . 0.190000 Q86YZ3 . . . 0.000168 . 0.119 . . II.35 0 8.316e-06 0 0 0 0 1.827e-05 0 0 0.0005 0.0010 0.0012 0 0 0.0009 0.0014 0.0021 . . 0.133 . 1.304 1.304000 . . 0.190000 . . 1.0E-180 0.000 0.063 . 0.016 0.002 . 0.201 . 0.123 1.304 -1.598 0.0003 . . rs368306077 . 1 1538 10 1/0 0,127,244 +. 1 152190330 C T - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152190330 152190330 Chr1(GRCh37):g.152190330C>T 3775 3775 NM_001009931.2:c.3775G>A p.Gly1259Ser p.Gly1259Ser 3 616293 3637 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 rs200844006 yes no Frequency 1 C 0.000000 0 0.008482 0.001179 0.002250 0.008475 0.011667 0.011913 0.011051 0.041176 0.012640 0.041176 221 6 8 5 42 35 102 14 9 26054 5088 3556 590 3600 2938 9230 340 712 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 221 6 8 5 42 35 102 14 9 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4592719|COSM4592719|COSM4592719 Upper aerodigestive tract|Thyroid|Haematopoietic and lymphoid tissue 0.011254|0.001339|0.000283 1244|747|3530 transition G A G>A 0.000 -0.521 G Gly GGC 0.342 S Ser AGC 0.243 1259 7 2 Bushbaby 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 144.64 0.00 Tolerated 0.74 III.58 200 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.G3775A:p.G1259S HRNR:uc001ezt.2:exon3:c.G3775A:p.G1259S HRNR:NM_001009931:exon3:c.G3775A:p.G1259S . . 0.15873016 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.168 . . . . . . . 1 0.069 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1259S|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -1.0650 -1.222 -1.065 c . . . . . 2.437e-03 . . . 0 0 0 . . 0 . 0 0 0 0 . . 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.039 . . exonic exonic exonic . . 0.062 . . . . 0.28 0.31 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.011 . . 0.456 . . . 0.458 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.251 . . 0 0 0 0 . 0 . 0.351 . . 0.176 . . . . . . 0 0.410 . . . . . 0.286 . 0.269 . HET 0.76 rs200844006 . . . . . . . . . . . . VII.58 0.011905 ENST00000368801 3.I -2.37 . 0.500000 Q86YZ3 . . . . . 0.026 . . . 0.0016 0.0089 0.0023 0.0085 0.0117 0.0412 0.0111 0.0128 0.0119 0 0 0 0 . . 0 0 . . 0.133 . -0.283 -0.283000 . . 0.500000 . . 1.0E-200 0.000 0.063 . 0.016 0.000 . 0.025 . 0.059 -0.283 -1.152 . . . rs200844006 rs200844006 1 1538 10 1/0 0,222,255 +. 1 152190408 C T - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152190408 152190408 Chr1(GRCh37):g.152190408C>T 3697 3697 NM_001009931.2:c.3697G>A p.Gly1233Ser p.Gly1233Ser 3 616293 3559 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 New Acceptor Site 152190406 2.20196 0.007764 76.7416 rs202137328 yes no Frequency 1 C 0.000000 0 0.008647 0.032151 0.005245 0.002463 0.003039 0.001632 0.002569 0.002283 0.002101 0.032151 295 214 24 2 15 6 31 1 2 34114 6656 4576 812 4936 3676 12068 438 952 0.000528 0.002404 0.000437 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 9 8 1 0 0 0 0 0 0 277 198 22 2 15 6 31 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424539 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.000 0.367 G Gly GGC 0.342 S Ser AGC 0.243 1233 7 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 178 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.G3697A:p.G1233S HRNR:uc001ezt.2:exon3:c.G3697A:p.G1233S HRNR:NM_001009931:exon3:c.G3697A:p.G1233S . . 0.11111111 . . . 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.193 . . . . . . . 1 0.092 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1233S|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -0.7699 -0.957 -0.770 c . . . . . 7.669e-04 . . . . . . . . . . . 0 0 0 . . 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.057 . . exonic exonic exonic . . 0.176 . . . . 0.34 0.3 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.013 . . 0.379 . . . 0.507 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 . 0 . 0.581 . . 0.358 . . . . . . 0 0.237 . . . . . 0.200 . 0.124 . LowAF 0 rs202137328 . . . . . . . . . . . . VI.92 0.02071 ENST00000368801 II.95 0.768 . 1.000000 Q86YZ3 . . . . . 0.011 . . . 0.0399 0.0090 0.0053 0.0025 0.0030 0.0023 0.0026 0.0021 0.0016 0.0008 0.0007 0 . . . 0 0 . . 0.133 . 0.049 0.049000 . . 1.000000 . . 1.0E-178 0.000 0.063 . 0.062 0.001 . 0.017 . 0.313 0.049 -0.041 . . . rs202137328 rs202137328 1 1538 10 1/0 0,255,255 +. 1 152190647 C G - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152190647 152190647 Chr1(GRCh37):g.152190647C>G 3458 3458 NM_001009931.2:c.3458G>C p.Ser1153Thr p.Ser1153Thr 3 616293 3320 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 Cryptic Acceptor Strongly Activated 152190643 4.76474 0.214263 6.99345 0.29514 76.234 rs201434802 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000800 0.000000 0.002000 0.000000 0.000000 0.001867 0.000302 0.001493 0.001304 0.000587 0.006083 0.001177 0.008034 0.001415 0.008034 136 3 18 2 5 42 33 30 3 72836 9922 12058 1534 8522 6904 28042 3734 2120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136 3 18 2 5 42 33 30 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1733372|COSM1733372 Thyroid|Pancreas 0.001339|0.000569 747|1758 transversion G C G>C 0.000 0.044 S Ser AGC 0.243 T Thr ACC 0.361 1153 7 4 Cat 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 208.58 30.IX Tolerated 0.16 III.61 185 PASS . . . . . 0.0008 0.0006 . 0.002 . . ENSG00000197915:ENST00000368801:exon3:c.G3458C:p.S1153T HRNR:uc001ezt.2:exon3:c.G3458C:p.S1153T HRNR:NM_001009931:exon3:c.G3458C:p.S1153T . . 0.12330827 . . . 82 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.067 . . . . . . . 1 0.076 . . 665.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aCc|S1153T|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -1.1192 -1.161 -1.119 c . . . . . 4.814e-04 . . . 0 0.0080 0 0 0 0 0 0.0426 0.0147 0.0134 0 0 0 0 0 0.0426 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.052 . . exonic exonic exonic . . 0.148 . . . . 0.26 0.23 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.010 . . 0.475 . . . 0.579 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 . 0 . 0.190 . . 0.121 . . . . . . 0 0.195 . . . . . 0.111 . 0.306 . LowAF 0.62 rs201434802 . . . . . . ID\x3dCOSM1733372\x3bOCCURENCE\x3d1(pancreas) . . . . . IV.91 . ENST00000368801 III.53 0.255 . 0.590000 Q86YZ3 . . . . . 0.089 . . . 0.0002 0.0016 0.0014 0.0014 0.0003 0.0073 0.0008 0.0007 0.0061 0.0004 0.0028 0.0033 0 0.0034 0.0082 0.0022 0.0034 . . 0.246 . -0.038 -0.038000 . . 0.590000 . . 1.0E-185 0.000 0.063 . 0.016 0.005 . 0.108 . 0.115 -0.038 0.744 . . . rs77670650 rs201434802 1 1538 10 1/0 0,146,255 +. 1 152190652 A G - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution synonymous exon GRCh37 152190652 152190652 Chr1(GRCh37):g.152190652A>G 3453 3453 NM_001009931.2:c.3453T>C p.Ser1151= p.Ser1151Ser 3 616293 3315 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 rs200579715 yes no Frequency 1 A 0.000000 0 0.000147 0.000098 0.000167 0.000000 0.000350 0.000431 0.000068 0.000000 0.000000 0.000431 11 1 2 0 3 3 2 0 0 74738 10246 11982 1550 8564 6962 29318 3932 2184 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 2 0 3 3 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.044 S Ser TCT 0.185 S Ser TCC 0.220 1151 193 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.T3453C:p.S1151S HRNR:uc001ezt.2:exon3:c.T3453C:p.S1151S HRNR:NM_001009931:exon3:c.T3453C:p.S1151S . . 0.14015748 . . . 89 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 635.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S1151|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -0.0392 . . . . . . . . 1.767e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.26 0.21 182 ENSG00000197915 HRNR HRNR . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200579715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0.0002 0 0.0004 0 5.027e-05 0 0.0004 0 4.99e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs200579715 rs200579715 1 1538 10 1/0 0,150,255 +. 1 152552197 G A - LCE3D 16615 Late cornified envelope 3D NM_032563.1 -1 610 279 NP_115952.1 Q9BYE3 substitution synonymous exon GRCh37 152552197 152552197 Chr1(GRCh37):g.152552197G>A 216 216 NM_032563.1:c.216C>T p.Asp72= p.Asp72Asp 2 612616 237 3' 98.0071 8.30357 0.870734 6.80417 98.0071 8.30357 0.870734 6.80417 0 rs138761139 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.004000 0.004300 0.007110 0.000501 0.004642 0.023744 0.000000 0.003931 0.007674 0.014927 0.012218 0.023744 1969 12 159 241 0 121 972 385 79 276920 23974 34250 10150 18852 30782 126654 25792 6466 0.000181 0.000000 0.000467 0.000985 0.000000 0.000065 0.000079 0.000388 0.000309 25 0 8 5 0 1 5 5 1 1919 12 143 231 0 119 962 375 77 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4404 12947 57 2 59 0.00662791 0.000453926 0.00453637 0.00662791 0.000453926 0.00453637 66 COSM328073 Pancreas 0.000569 1758 transition C T C>T 0.000 -1.005 D Asp GAC 0.539 D Asp GAT 0.461 72 255 PASS . 0.0027 0.01 . 0.01 . 0.0016 0.0043 . 0.004 0.001 ENSG00000163202:ENST00000368787:exon2:c.C216T:p.D72D . LCE3D:NM_032563:exon2:c.C216T:p.D72D . . 0.43636364 . . . 48 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . . . . . . . 2 . . . 110.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D72|LCE3D|mRNA|CODING|NM_032563|NM_032563.ex.2) 0.0005 0.0045 0.0066 0.0005 0.0045 0.0066 . 0.0320 . . . . . . . . 6.504e-03 . . . 0.0004 0.0064 0.0034 0 0.0174 0.0095 0.0113 0.0036 0.0003 0.0064 0.0032 0 0.0148 0.0088 0.0087 0.0037 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.17 0.29 182 ENSG00000163202 LCE3D LCE3D . . . . . . 511 0.00786444 64976 503 0.00838529 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138761139 . . . . . . . . . . . . . . . . . . . . . . . 0.004536 . . . . . 0.0004 0.0070 0.0046 0.0234 0 0.0143 0.0073 0.0113 0.0039 0.0007 0.0083 0.0048 0.0364 0 0.0189 0.0102 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs138761139 rs138761139 1 1538 10 1/0 0,248,255 +. 1 153043241 C T - SPRR2B 11262 Small proline-rich protein 2B NM_001017418.2 -1 675 219 NP_001017418.1 P35325 substitution synonymous exon GRCh37 153043241 153043241 Chr1(GRCh37):g.153043241C>T 75 75 NM_001017418.2:c.75G>A p.Glu25= p.Glu25Glu 2 182268 94 3' 89.5789 X.87 0.984956 XII.58 89.5789 X.87 0.984956 XII.58 0 rs767338983 yes no Frequency 1 C 0.000000 0 0.000026 0.000067 0.000000 0.000000 0.000000 0.000000 0.000019 0.000143 0.000000 0.000143 6 1 0 0 0 0 2 3 0 231004 14892 32762 8296 17114 27560 104198 21030 5152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transition G A G>A 0.079 0.367 E Glu GAG 0.583 E Glu GAA 0.417 25 203 PASS . . . . . . . . . . . . SPRR2B:uc001fbg.3:exon2:c.G75A:p.E25E SPRR2B:NM_001017418:exon2:c.G75A:p.E25E . . 0.16981132 . . . 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E25|SPRR2B|mRNA|CODING|NM_001017418|NM_001017418.ex.2) . . . . . . . 0.2273 . . . . . . . . 1.581e-05 . . . 0 2.511e-05 0 0 0.0003 2.649e-05 0 0 0 2.126e-05 0 0 0.0002 2.014e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.05 0.2 182 ENSG00000196805 SPRR2B SPRR2B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs767338983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.715e-05 2.597e-05 0 0 0 0.0001 1.919e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs61735538 rs61735538 1 1538 10 1/0 0,255,255 +. 1 153066050 A C - SPRR2E 11265 Small proline-rich protein 2E NM_001024209.3 -1 681 219 NP_001019380.2 P22531 substitution missense exon GRCh37 153066050 153066050 Chr1(GRCh37):g.153066050A>C 178 178 NM_001024209.3:c.178T>G p.Ser60Ala p.Ser60Ala 2 617588 197 3' 89.5789 9.93706 0.979925 11.1681 89.5789 9.93706 0.979925 11.1681 0 rs138808935 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.004100 0.000000 0.000000 0.000000 0.001500 0.000333 0.000610 0.001382 0.000106 0.002573 0.001996 0.001125 0.001549 0.002573 415 8 21 14 2 79 252 29 10 276650 24028 34414 10130 18864 30708 126276 25776 6454 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 413 8 21 14 2 77 252 29 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4404 12985 19 2 21 0.0022093 0.000453926 0.00161464 0.0022093 0.000453926 0.00161464 245 transversion T G T>G 0.000 -0.037 S Ser TCC 0.220 A Ala GCC 0.403 60 6 6 Olive baboon 1 1 2 I.42 0 9.II 8.I 32 31 99 C65 0.00 99.13 Deleterious 0 IV.32 255 PASS . . . . . . 0.0008 . . . 0.0041 . . SPRR2E:NM_001024209:exon2:c.T178G:p.S60A . . 0.5072464 . . . 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . . . . . . . 1 0.051 . . 69.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S60A|SPRR2E|mRNA|CODING|NM_001024209|NM_001024209.ex.2) 0.0005 0.0016 0.0022 0.0005 0.0016 0.0022 . -1.1361 -1.213 -1.136 c . . . . . 1.547e-03 . . . 0.0002 0.0017 0.0004 0 0.0011 0.0023 0.0042 0.0030 0.0002 0.0015 0.0004 0 0.0011 0.0018 0.0043 0.0030 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.301 . . exonic exonic exonic . . 0.126 . . . . 0.32 0.25 182 ENSG00000203785 SPRR2E SPRR2E . . . 0.001 0.074 . 125 0.00192379 64976 121 0.00201714 59986 Uncertain_significance . 0 . 0.107 . . . . T 0.117 0.005 . . 37 . 0.092 . . 0.376 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 . 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.241 . 0.069 . HET . rs138808935 . . . . . . . . . . . . 7.053 5.35E-4 . IV.13 -0.178 . 0.000000 P22531 . . . 0.001615 . 0.069 . . . 0.0002 0.0016 0.0006 0.0013 0.0001 0.0011 0.0021 0.0018 0.0026 0.0006 0.0009 0.0012 0.0033 0 0.0014 0.0011 0 . . 0.133 . -0.359 -0.359000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.074 0.001 . 0.111 . 0.116 -0.359 0.075 0.0022 . . rs138808935 rs138808935 1 1538 10 1/0 0,255,255 +. 1 153234011 T G - LOR 6663 Loricrin NM_000427.2 1 1229 939 NP_000418.2 P23490 substitution missense exon GRCh37 153234011 153234011 Chr1(GRCh37):g.153234011T>G 586 586 NM_000427.2:c.586T>G p.Cys196Gly p.Cys196Gly 2 152445 609 3' 92.1811 X.03 0.982793 X.62 92.1811 X.03 0.982793 X.62 0 rs142603426 yes no Frequency/1000G 2 T 0.000000 0 0.000032 0.000218 0.000000 0.000000 0.000000 0.000000 0.000041 0.000000 0.000000 0.000218 4 2 0 0 0 0 2 0 0 126304 9156 20640 7330 8716 19866 48882 8016 3698 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4169128|COSM4169128 Peritoneum|Large intestine 0.100000|0.000448 10|2231 transversion T G T>G 0.118 -0.360 C Cys TGC 0.552 G Gly GGC 0.342 196 8 8 Little brown bat -3 -3 -6 II.75 0.74 5.V 9 55 3 159 C65 0.00 158.23 Deleterious 0 III.71 bad 1.015E-3 0.0001185 203 PASS 0.2 0.18 0.2 0.15 0.18 . . . . . . ENSG00000203782:ENST00000368742:exon2:c.T586G:p.C196G . LOR:NM_000427:exon2:c.T586G:p.C196G . . 0.17142858 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . . . . . . . 1 0.035 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Ggc|C196G|LOR|mRNA|CODING|NM_000427|NM_000427.ex.2) . . . . . . . -1.2303 -1.156 -1.230 c . . . . . 2.103e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.083 . . . . 0.17 0.43 182 ENSG00000203782 LOR LOR . . . 1.000 0.434 . . . . . . . Uncertain_significance . 0 . 0.241 . . . . T 0.146 0.006 . . 37 . 0.028 . . 0.400 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.912 . . 0 0 0 0 . 0 . 0.090 . . 0.063 . . . . . . 0 . . . . . . 0.088 . 0.326 . HET . rs142603426 0.011 0.007 . . . . . 0.1813186813186813 0.1991869918699187 0.19613259668508287 0.1520979020979021 0.18469656992084432 III.32 0.008314 . III.98 -1.47 . 0.000000 P23490 . . . . . 0.183 . . . 0.0004 1.971e-05 0 0 0 0 2.699e-05 0 0 0.0001 8.052e-05 0 0 0 0 8.45e-05 0 . . 0.217 . -0.521 -0.521000 . . 0.000000 . . 1.0E-203 0.000 0.063 . 0.243 0.981 . 0.140 . 0.350 -0.521 0.970 0.2 . . rs142603426 rs142603426 1 1538 10 1/0 0,255,255 +. 1 153303549 C CA - PGLYRP4 30015 Peptidoglycan recognition protein 4 NM_020393.3 -1 2129 1122 NP_065126.2 Q96LB8 duplication intron GRCh37 153303549 153303550 Chr1(GRCh37):g.153303550dup 944-129 944-129 NM_020393.3:c.944-129dup p.? p.? 9 8 608198 -128 3' 89.8876 X.14 0.929616 9.94966 89.8876 X.14 0.929616 9.94966 0 rs570453963 yes no Frequency/1000G 2 0.001597 A 8 0.001597 0.002300 0.001000 0.000000 0.001000 0.004300 0.002765 0.000469 0.003606 0.006623 0.000000 0.000000 0.004675 0.001225 0.002128 0.006623 83 4 3 2 0 0 68 4 2 30018 8526 832 302 1606 0 14546 3266 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 4 3 2 0 0 68 4 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes T 255 Pass . . . . . 0.0023 0.0016 0.0043 . 0.001 0.001 . . . . . 0.5833333 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60 . . INTRON(MODIFIER||||PGLYRP4|mRNA|CODING|NM_020393|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000163218 PGLYRP4 PGLYRP4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs570453963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0028 0.0036 0.0066 0 0.0012 0.0047 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +. 1 153604012 A G - S100A1 10486 S100 calcium binding protein A1 NM_006271.1 1 594 285 NP_006262.1 P23297 substitution intron GRCh37 153604012 153604012 Chr1(GRCh37):g.153604012A>G 142-162 142-162 NM_006271.1:c.142-162A>G p.? p.? 3 2 176940 -162 3' 82.641 10.121 0.988619 13.9367 82.641 10.121 0.988619 13.9367 0 transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.39130434 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000272030 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 153604012 A G - S100A13 10490 S100 calcium binding protein A13 NM_001024211.1 -1 613 297 NP_001019382.1 Q99584 substitution upstream GRCh37 153604012 153604012 Chr1(GRCh37):g.153604012A>G -4115 -4115 NM_001024211.1:c.-4115T>C p.? p.? 1 601989 -4054 5' 86.6769 9.89081 0.992372 8.44807 86.6769 9.89081 0.992372 8.44807 0 transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.39130434 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000272030 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs115199989 1 153924297 C A - CRTC2 27301 CREB regulated transcription coactivator 2 NM_181715.2 -1 2678 2082 NP_859066.1 Q53ET0 substitution intron GRCh37 153924297 153924297 Chr1(GRCh37):g.153924297C>A 998-155 998-155 NM_181715.2:c.998-155G>T p.? p.? 11 10 608972 -155 3' 86.9491 XI.71 0.856421 10.0654 86.9491 XI.71 0.856421 10.0654 0 New Donor Site 153924299 8.67858 0.962232 89.8108 rs115199989 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.000800 0.001000 0.000000 0.012900 0.008600 0.008963 0.002411 0.005967 0.009934 0.000000 0.000000 0.013896 0.008309 0.011247 0.013896 277 21 5 3 0 0 208 29 11 30906 8710 838 302 1620 0 14968 3490 978 0.007220 0.000000 0.000000 0.000000 0.000000 0.000000 0.009615 0.000000 0.000000 2 0 0 0 0 0 2 0 0 273 21 5 3 0 0 204 29 11 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 0.000 0.205 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.0042 0.0086 . 0.013 0.001 . . . . . 0.5405405 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||CRTC2|mRNA|CODING|NM_181715|) . . . . . . . 0.1185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.53 0.31 182 ENSG00000160741 CRTC2 CRTC2 . . . . . . 934 0.0143745 64976 913 0.0152202 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115199989 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv872450 . . . . . . . . . . . . . . . 0.0024 0.0090 0.0060 0.0099 0 0.0083 0.0139 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs115199989 rs115199989 1 1538 10 1/0 0,255,255 +. 1 154242881 A C - UBAP2L 29877 Ubiquitin associated protein 2-like NM_014847.3 1 3989 3264 NP_055662.3 Q14157 substitution 3'UTR GRCh37 154242881 154242881 Chr1(GRCh37):g.154242881A>C *110 *110 NM_014847.3:c.*110A>C p.? p.? 27 616472 206 3' 83.6454 X.43 0.959822 XII.91 83.6454 X.43 0.959822 XII.91 0 Cryptic Acceptor Strongly Activated 154242889 8.50261 0.044956 70.5001 9.52732 0.477338 71.2148 0.001501 0.001695 0.000000 0.000000 0.000652 0.000000 0.000964 0.004264 0.002427 0.004264 41 13 0 0 1 0 13 12 2 27314 7668 718 276 1534 0 13480 2814 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 13 0 0 1 0 13 12 2 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion A C A>C 1.000 1.093 212 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.1145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000143569 UBAP2L UBAP2L . . NM_014847:c.*110A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IX.26 . ENST00000456955 III.96 II.79 . 0.000000 . . . Name\x3dnsv521887 . . . . . II.79 . . . . . . . . . 0.0017 0.0015 0 0 0.0007 0.0043 0.0010 0.0024 . . . . 0.822 0.822000 . . 0.000000 . . 1.0E-212 . . . . . . . . . 0.822 . . . . . . 1 1538 10 1/0 0,255,255 +rs151023747 1 154709623 G A - KCNN3 6292 Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 NM_001204087.1 -1 13069 2241 NP_001191016.1 substitution intron GRCh37 154709623 154709623 Chr1(GRCh37):g.154709623G>A 1449-59 1449-59 NM_001204087.1:c.1449-59C>T p.? p.? 4 3 602983 -59 3' 79.3294 10.1893 0.844341 9.14858 79.3294 10.1893 0.844341 8.88193 0 rs151023747 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.009337 0.001152 0.004773 0.000000 0.000000 0.000000 0.011424 0.027027 0.009240 0.027027 288 10 4 0 0 0 171 94 9 30846 8680 838 300 1608 0 14968 3478 974 0.010417 0.000000 0.000000 0.000000 0.000000 0.000000 0.005848 0.021277 0.000000 3 0 0 0 0 0 1 2 0 282 10 4 0 0 0 169 90 9 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transition C T C>T 1.000 2.304 255 PASS . 0.0027 . . 0.01 . 0.0014 . . 0.007 . . . . . . 0.5714286 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . I.55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.61 0.48 182 ENSG00000143603 KCNN3 KCNN3 . . . . . . 668 0.0102807 64976 659 0.0109859 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151023747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.72 . . . . . . . . . 0.0012 0.0093 0.0048 0 0 0.0270 0.0114 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151023747 rs151023747 1 1538 10 1/0 0,255,255 +rs774893297 1 155188182 T C - GBAP1 4178 Glucosidase, beta, acid pseudogene 1 NR_002188.2 -1 2036 0 substitution exon GRCh37 155188182 155188182 Chr1(GRCh37):g.155188182T>C 337 337 NR_002188.2:n.337A>G 3 -4 5' 70.4128 6.51426 0.803332 1.42876 70.4128 6.51426 0.334702 0 -0.194453 New Donor Site 155188183 X.36 0.995591 95.6376 rs774893297 yes no Frequency 1 C 0.000000 0 0.000022 0.000042 0.000000 0.000099 0.000000 0.000033 0.000016 0.000000 0.000155 0.000099 6 1 0 1 0 1 2 0 1 276174 24002 34418 10148 18860 30764 126400 25128 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 1 0 1 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.787 1.093 255 PASS . . . . . . . . . . . . GBAP1:uc001fjd.3:exon2:c.A116G:p.D39G . . . 0.45930234 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 172.0 . . . . . . . . . . 0.7825 . . . . . . . . 7.892e-05 . . . 0 8.826e-05 8.646e-05 0 0 0 0 0.0004 0 8.474e-05 8.916e-05 0.0001 0 0 0 0.0004 . nonsynonymous_SNV . . . . ncRNA_exonic\x3bsplicing exonic ncRNA_exonic . . . @ . . . . . . ENSG00000160766\x3bENSG00000160766 GBAP1 GBAP1 ENST00000566701:exon2:c.115+1A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.79 0 2.039e-05 0 0.0001 0 0 1.795e-05 0.0002 3.251e-05 0.0001 3.233e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +rs634510 1 155631266 T C - YY1AP1 30935 YY1 associated protein 1 NM_001198903.1 -1 3074 2667 NP_001185832.1 substitution intron GRCh37 155631266 155631266 Chr1(GRCh37):g.155631266T>C 1294-52 1294-52 NM_001198903.1:c.1294-52A>G p.? p.? 9 8 607860 -52 3' 80.3706 5.71526 0.049421 2.40514 80.3706 5.71526 0.049421 II.43 0 rs634510 yes no Frequency 1 C 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245902 15290 33578 9850 17244 30776 111384 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 94 Exomes transition A G A>G 0.000 -0.602 191 PASS . . . . . . . . . . . . . . . . 0.14 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.1013 . . . . . . . . 1.578e-05 . . . 0 1.102e-05 0 0 0 0 0 6.061e-05 0 9.419e-06 0 0 0 0 0 6.095e-05 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.65 0.14 182 ENSG00000203761 YY1AP1 YY1AP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs634510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.133e-06 0 0 0 0 1.796e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs634510 rs634510 rs634510 rs634510 1 1538 10 1/0 0,255,255 +. 1 155650346 G A - YY1AP1 30935 YY1 associated protein 1 NM_001198903.1 -1 3074 2667 NP_001185832.1 substitution intron GRCh37 155650346 155650346 Chr1(GRCh37):g.155650346G>A 395-99 395-99 NM_001198903.1:c.395-99C>T p.? p.? 2 1 607860 -99 3' 90.4519 7.92397 0.736885 5.49932 90.4519 7.92397 0.736885 5.49932 0 rs1042565866 yes no Frequency 1 G 0.000000 0 0.001033 0.000000 0.000000 0.003311 0.000000 0.000000 0.001732 0.001145 0.001018 0.003311 32 0 0 1 0 0 26 4 1 30982 8734 838 302 1620 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 0 0 1 0 0 26 4 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.008 0.286 255 PASS . . . . . . . . . . . . . . . . 0.6216216 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.0505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000203761 YY1AP1 YY1AP1 . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0010 0 0.0033 0 0.0011 0.0017 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199983831 1 156553142 G C - TTC24 32348 Tetratricopeptide repeat domain 24 NM_001105669.3 1 2927 1749 NP_001099139.2 A2A3L6 substitution missense exon GRCh37 156553142 156553142 Chr1(GRCh37):g.156553142G>C 1052 1052 NM_001105669.3:c.1052G>C p.Gly351Ala p.Gly351Ala 4 13 3' 92.9684 8.30115 0.960761 6.1843 92.9684 8.30115 0.952881 6.05221 -0.00273394 Tetratricopeptide repeat-containing domain rs199983831 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.007000 0.001400 0.005367 0.000042 0.000058 0.001093 0.000000 0.000000 0.003523 0.037878 0.007479 0.037878 1480 1 2 11 0 0 444 974 48 275772 23868 34198 10060 18804 30680 126030 25714 6418 0.000087 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000933 0.000000 12 0 0 0 0 0 0 12 0 1456 1 2 11 0 0 444 950 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8293 3970 12263 17 0 17 0.00204573 0 0.00138436 0.00204573 0 0.00138436 28 transversion G C G>C 1.000 3.757 G Gly GGA 0.246 A Ala GCA 0.226 351 12 12 Dolphin 0 0 0 0.74 0 9 8.I 3 31 60 C55 0.00 60.00 Deleterious 0 III.93 255 PASS . . . . . . 0.0016 0.0014 . 0.007 . . TTC24:uc021pbf.1:exon5:c.G1052C:p.G351A TTC24:NM_001105669:exon5:c.G1052C:p.G351A . . 0.46666667 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.593 . @ . . . . . 1 0.859 . . 75.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gCa|G351A|TTC24|mRNA|CODING|NM_001105669|NM_001105669.ex.5) . 0.0014 0.002 . 0.0014 0.002 . 0.5843 0.617 0.584 c . . . . . 4.607e-03 . . . 0 0.0030 0.0003 0 0.0403 0.0027 0.0045 0 0 0.0042 0.0002 0 0.0377 0.0035 0.0123 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.937 . . exonic exonic exonic . . 0.691 0.0016 . . . 0.32 0.56 182 ENSG00000187862 TTC24 TTC24 . . . 1.000 0.747 . 284 0.00437084 64976 276 0.00460107 59986 Uncertain_significance . 0 . 0.266 . . . . . . . . . 37 . 0.920 . . 0.926 . . . 0.334 0.469 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.726 . . 0 0 0 0 0 0 . 0.528 . . 0.566 . . . . . . 0 0.237 . . . . . 0.870 . 0.681 . HET 0.14 rs199983831 . . . . . . . . . . . . 17.282 0.0 . 5.XI 5.XI . 0.040000 A2A3L6 . . Name\x3dnsv523181 0.001384 . 0.727 . . 5.XI 0 0.0048 5.995e-05 0.0010 0 0.0374 0.0027 0.0061 0 0.0001 0.0098 0 0.0033 0 0.0408 0.0096 0.0153 . . 0.283 . 2.671 2.671000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.604 1.000 . 0.757 . 0.713 2.671 0.917 0.002 . . rs199983831 rs199983831 1 1538 10 1/0 0,255,255 +rs558977082 1 156785953 C A - NTRK1 8031 Neurotrophic tyrosine kinase, receptor, type 1 NM_002529.3 1 2655 2391 NP_002520.2 P04629 substitution upstream GRCh37 156785953 156785953 Chr1(GRCh37):g.156785953C>A -44774 -44774 NM_002529.3:c.-44774C>A p.? p.? 1 191315 -44986 5' 71.0537 7.38896 0.83501 X.69 71.0537 7.38896 0.83501 X.69 0 rs558977082 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000388 0.000115 0.000000 0.000000 0.000000 0.000000 0.000735 0.000000 0.000000 0.000735 12 1 0 0 0 0 11 0 0 30930 8718 838 302 1622 0 14976 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 1 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion C A C>A 0.000 0.125 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.56179774 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 0.0628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 20 0.000307806 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558977082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs558977082 1 156785953 C A - SH2D2A 10821 SH2 domain containing 2A NM_001161441.1 -1 1674 1200 NP_001154913.1 substitution intron GRCh37 156785953 156785953 Chr1(GRCh37):g.156785953C>A 35-67 35-67 NM_001161441.1:c.35-67G>T p.? p.? 2 1 604514 -67 3' 91.2312 8.59785 0.97532 7.90305 91.2312 8.59785 0.97532 7.39578 0 rs558977082 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000388 0.000115 0.000000 0.000000 0.000000 0.000000 0.000735 0.000000 0.000000 0.000735 12 1 0 0 0 0 11 0 0 30930 8718 838 302 1622 0 14976 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 1 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion G T G>T 0.000 0.125 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.56179774 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 0.0628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 20 0.000307806 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558977082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 156914242 TT T - ARHGEF11 14580 Rho guanine nucleotide exchange factor (GEF) 11 NM_198236.2 -1 6889 4689 NP_937879.1 deletion intron GRCh37 156914242 156914242 Chr1(GRCh37):g.156914242del 2992-17 2992-17 NM_198236.2:c.2992-17del p.? p.? 31 30 605708 -17 3' 85.4654 6.69781 0.537081 4.1025 85.4654 6.38996 0.296899 0 -0.164387 Cryptic Donor Strongly Activated 156914241 0.018819 63.9502 2.56719 0.18104 72.4613 T 255 Pass . . . . . . . . . . . . . . . . 0.30508474 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 59 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000132694 ARHGEF11 ARHGEF11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,52 +rs185161099 1 159899462 C A - IGSF9 18132 Immunoglobulin superfamily, member 9 NM_001135050.1 -1 4044 3540 NP_001128522.1 Q9P2J2 substitution missense exon GRCh37 159899462 159899462 Chr1(GRCh37):g.159899462C>A 2292 2292 NM_001135050.1:c.2292G>T p.Arg764Ser p.Arg764Ser 17 609738 -35 5' 99.6933 X.84 0.998767 16.2093 99.6933 X.84 0.998767 16.4176 0 rs185161099 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000800 0.002000 0.000000 0.004000 0.004300 0.004070 0.001341 0.002508 0.000766 0.000000 0.002090 0.006535 0.003136 0.006392 0.006535 951 27 75 7 0 57 685 64 36 233656 20130 29902 9140 16358 27272 104816 20406 5632 0.000017 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000098 0.000000 2 0 0 0 0 1 0 1 0 947 27 75 7 0 55 685 62 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8333 4260 12593 49 6 55 0.00584586 0.00140647 0.00434851 0.00584586 0.00140647 0.00434851 10 transversion G T G>T 1.000 1.174 R Arg AGG 0.207 S Ser AGT 0.149 764 13 10 Frog -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 241.65 21.IV Deleterious 0.01 III.20 bad 2.036E-4 0.0001682 255 PASS . 0.0027 0.01 . 0.004 0.0008 0.002 0.0043 . 0.004 0.002 . . . . . 0.44444445 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.858 . @ . . . . . 1 0.686 . . 108.0 . . . 0.0014 0.0043 0.0058 0.0014 0.0043 0.0058 . 0.0886 0.081 0.089 c . . . . . 3.889e-03 . . . 0.0015 0.0057 0.0050 0 0.0078 0.0093 0.0075 0.0028 0.0014 0.0063 0.0052 0 0.0111 0.0092 0.0037 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.706 . . exonic exonic exonic . . 0.360 0.0020 . . . 0.5 0.6 182 ENSG00000085552 IGSF9 IGSF9 . . . 1.000 0.747 . 228 0.00350899 64976 219 0.00365085 59986 Uncertain_significance . 0 . 0.412 . . . . . . . . . 37 . 0.487 . . 0.485 . . . 0.700 0.328 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.453 . . 0.413 . . . . . . 0 0.721 . . . . . 0.240 . 0.588 . HET . rs185161099 . . . . . . . 0.0027472527472527475 0.0 0.008287292817679558 0.0 0.00395778364116095 7.0317 0.001392 . IV.16 III.23 . . Q9P2J2 . . . 0.004349 . 0.367 . . III.23 0.0014 0.0041 0.0025 0.0008 0 0.0027 0.0066 0.0064 0.0021 0.0013 0.0040 0.0024 0 0 0.0052 0.0059 0.0061 . . 0.997 . 0.922 0.922000 . . . . . 1.0E-255 0.637 0.278 . 0.517 0.858 . 0.132 . 0.314 0.922 0.871 0.01 . . rs185161099 rs185161099 1 1538 10 1/0 0,251,255 +rs538950019 1 161309247 A G - SDHC 10682 Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa NM_003001.3 1 2858 510 NP_002992.1 Q99643 substitution intron GRCh37 161309247 161309247 Chr1(GRCh37):g.161309247A>G 180-1137 180-1137 NM_003001.3:c.180-1137A>G p.? p.? 4 3 602413 -1137 3' 90.7011 XI.11 0.985868 8.75738 90.7011 XI.11 0.985868 8.75738 0 rs538950019 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000621 0.002183 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002183 19 19 0 0 0 0 0 0 0 30586 8702 832 302 1620 0 14834 3336 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 19 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition A G A>G 0.614 0.367 255 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.64285713 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . 0.0387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000143252 SDHC SDHC . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs538950019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0006 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 161483783 CA C - FCGR2A 3616 Fc fragment of IgG, low affinity IIa, receptor (CD32) NM_001136219.1 1 2429 954 NP_001129691.1 P12318 deletion intron GRCh37 161483784 161483784 Chr1(GRCh37):g.161483784del 780+62 780+62 NM_001136219.1:c.780+62del p.? p.? 6 6 146790 62 5' 92.583 10.0326 0.996004 8.37436 92.583 10.0326 0.996004 7.76351 0 rs11314582 no no 0 T 0.000000 0 0.004284 0.011875 0.003606 0.003356 0.000000 0.000000 0.001424 0.000290 0.002066 0.011875 131 103 3 1 0 0 21 1 2 30578 8674 832 298 1618 0 14744 3444 968 0.007634 0.009709 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 129 101 3 1 0 0 21 1 2 0 0 0 0 0 0 0 0 0 RF 43 Genomes 8248 4247 12495 4 19 23 0.000484731 0.00445382 0.00183735 0.000484731 0.00445382 0.00183735 198 A 255 Pass . . . . . . . . . . . . . . . . 0.13592233 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 103 . . . . . . 0.0045 0.0018 0.0005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000273112 FCGR2A FCGR2A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs11314582 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0119 0.0043 0.0036 0.0034 0 0.0003 0.0014 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs11314582 rs11314582 rs11314582 rs11314582 1 1538 10 1.I 0,5,87 +rs12092315 1 161483822 G A - FCGR2A 3616 Fc fragment of IgG, low affinity IIa, receptor (CD32) NM_001136219.1 1 2429 954 NP_001129691.1 P12318 substitution intron GRCh37 161483822 161483822 Chr1(GRCh37):g.161483822G>A 780+100 780+100 NM_001136219.1:c.780+100G>A p.? p.? 6 6 146790 100 5' 92.583 10.0326 0.996004 8.37436 92.583 10.0326 0.996004 8.37436 0 rs12092315 no no 0 G 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000135 2 0 0 0 0 0 2 0 0 30688 8664 832 300 1610 0 14830 3476 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition G A G>A 0.106 -0.198 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.1693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.33 0.19 182 ENSG00000273112 FCGR2A FCGR2A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs12092315 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.517e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs12092315 rs12092315 rs12092315 rs12092315 1 1538 10 1.I 0,0,0 +rs373611 1 161483856 A G - FCGR2A 3616 Fc fragment of IgG, low affinity IIa, receptor (CD32) NM_001136219.1 1 2429 954 NP_001129691.1 P12318 substitution intron GRCh37 161483856 161483856 Chr1(GRCh37):g.161483856A>G 780+134 780+134 NM_001136219.1:c.780+134A>G p.? p.? 6 6 146790 134 5' 92.583 10.0326 0.996004 8.37436 92.583 10.0326 0.996004 8.37436 0 rs373611 yes no Frequency 1 A 0.000000 0 0.002545 0.001976 0.006083 0.003425 0.005597 0.000000 0.002335 0.002343 0.003132 0.006083 77 17 5 1 9 0 34 8 3 30258 8602 822 292 1608 0 14562 3414 958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 17 5 1 9 0 34 8 3 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition A G A>G 0.016 0.528 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -0.1750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.29 0.15 182 ENSG00000273112 FCGR2A FCGR2A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs373611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0025 0.0061 0.0034 0.0056 0.0023 0.0023 0.0031 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs373611 rs373611 rs373611 rs373611 1 1538 10 1/0 0,253,255 +rs752495693 1 161494595 C G - HSPA6 5239 Heat shock 70kDa protein 6 (HSP70B') NM_002155.4 1 2358 1932 NP_002146.2 P17066 substitution synonymous exon GRCh37 161494595 161494595 Chr1(GRCh37):g.161494595C>G 147 147 NM_002155.4:c.147C>G p.Thr49= p.Thr49Thr 1 140555 Heat shock protein 70 rs752495693 yes no Frequency 1 0.000000 0 0.000929 0.000908 0.000715 0.000000 0.000819 0.000761 0.000882 0.002242 0.000947 0.002242 194 16 20 0 12 20 79 42 5 208882 17630 27978 8754 14648 26274 89590 18730 5278 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000022 0.000000 0.000000 1 0 0 0 0 0 1 0 0 192 16 20 0 12 20 77 42 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM2087207 Haematopoietic and lymphoid tissue 0.000567 3530 transversion C G C>G 0.961 -0.440 T Thr ACC 0.361 T Thr ACG 0.116 49 247 PASS . . . . . . . . . . . ENSG00000173110:ENST00000309758:exon1:c.C147G:p.T49T HSPA6:uc001gaq.3:exon1:c.C147G:p.T49T HSPA6:NM_002155:exon1:c.C147G:p.T49T . . 0.2955975 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acG|T49|HSPA6|mRNA|CODING|NM_002155|NM_002155.ex.1) . . . . . . . 0.2525 . . . . . . . . 8.233e-04 . . . 0.0033 0.0033 0.0097 0.0055 0.0045 0.0038 0 0.0018 0.0037 0.0040 0.0106 0.0055 0.0031 0.0055 0 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.39 182 ENSG00000173110 HSPA6 HSPA6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs752495693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0009 0.0007 0 0.0008 0.0019 0.0009 0.0009 0.0008 0.0011 0.0013 0 0 0.0006 0.0037 0.0010 0.0010 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . rs3754052 rs3754052 rs3754052 rs3754052 1 1538 10 1/0 0,194,252 +rs145615591 1 161551473 C A - FCGR2C 15626 Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) NM_201563.5 1 2488 972 NP_963857.3 P31995 substitution intron GRCh37 161551473 161551473 Chr1(GRCh37):g.161551473C>A 112+134 112+134 NM_201563.5:c.112+134C>A p.? p.? 1 1 612169 134 5' 82.5488 8.73118 0.991448 8.81695 82.5488 8.73118 0.991448 8.81695 0 rs145615591 no no 0 0.000000 0 transversion C A C>A 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . 0.2641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.37 0.34 182 ENSG00000273112 FCGR2C FCGR2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145615591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1459475 rs1459475 rs1459475 rs145615591 1 1538 10 1/0 0,255,255 +rs144725145 1 161558265 C T - FCGR2C 15626 Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) NM_201563.5 1 2488 972 NP_963857.3 P31995 substitution intron GRCh37 161558265 161558265 Chr1(GRCh37):g.161558265C>T 133+33 133+33 NM_201563.5:c.133+33C>T p.? p.? 2 2 612169 33 5' 91.4889 X.58 0.994754 10.0723 91.4889 X.58 0.994754 10.0068 0 rs144725145 no no 0 0.000000 0 0.000564 0.000000 0.000644 0.000000 0.000000 0.000000 0.000000 0.000000 0.007353 0.000644 2 0 1 0 0 0 0 0 1 3544 18 1554 12 292 1244 278 10 136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 132 Exomes transition C T C>T 0.000 0.044 213 PASS . . . . . . . . . . . . . . . . 0.1954023 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.0837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.46 0.31 182 ENSG00000273112 FCGR2C FCGR2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144725145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0006 0 0 0 0 0.0074 0 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs922087 rs922087 rs922087 rs144725145 1 1538 10 1/0 0,241,255 +. 1 161577761 C G - HSPA7 5240 Heat shock 70kDa protein 7 (HSP70B) NR_024151.1 1 2493 0 substitution exon GRCh37 161577761 161577761 Chr1(GRCh37):g.161577761C>G 1913 1913 NR_024151.1:n.1913C>G 1 140556 0.000066 0.000237 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000237 2 2 0 0 0 0 0 0 0 30478 8442 828 300 1590 0 14878 3478 962 0.500000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C G C>G 1.000 1.013 187 PASS . . . . . . . . . . . . . . . . 0.12878788 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 132.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T638R|HSPA7|Non-coding_transcript|NON_CODING|NR_024151|NR_024151.ex.1) . . . . . . . 0.4536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000225217 HSPA7 HSPA7 . uc010pkp.1:c.*577C>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.562e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +. 1 161577789 G A - HSPA7 5240 Heat shock 70kDa protein 7 (HSP70B) NR_024151.1 1 2493 0 substitution exon GRCh37 161577789 161577789 Chr1(GRCh37):g.161577789G>A 1941 1941 NR_024151.1:n.1941G>A 1 140556 0.000098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000201 0.000000 0.000000 0.000201 3 0 0 0 0 0 3 0 0 30530 8462 832 300 1600 0 14896 3478 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition G A G>A 0.976 0.448 202 PASS . . . . . . . . . . . . . . . . 0.1641791 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K647|HSPA7|Non-coding_transcript|NON_CODING|NR_024151|NR_024151.ex.1) . . . . . . . 0.5980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000225217 HSPA7 HSPA7 . uc010pkp.1:c.*605G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.826e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs2298020 1 161640108 C T - FCGR2B 3618 Fc fragment of IgG, low affinity IIb, receptor (CD32) NM_004001.4 1 2161 933 NP_003992.3 P31994 substitution intron GRCh37 161640108 161640108 Chr1(GRCh37):g.161640108C>T 133+46 133+46 NM_004001.4:c.133+46C>T p.? p.? 2 2 604590 46 5' 91.4889 X.58 0.994754 10.0723 91.4889 X.58 0.994754 9.89239 0 rs2298020 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 0 14 0 2 8 2 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4276 Exomes transition C T C>T 0.000 -0.198 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . -0.0893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.3 182 ENSG00000072694 FCGR2B FCGR2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2298020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs2298020 rs2298020 rs2298020 rs2298020 1 1538 10 1/0 0,248,255 +rs542297456 (chr1:162787229 T/C) 1 162787229 T C Not on a known gene +rs145104339 1 165721418 C T - TMCO1 18188 Transmembrane and coiled-coil domains 1 NM_019026.4 -1 4470 720 NP_061899.2 substitution intron GRCh37 165721418 165721418 Chr1(GRCh37):g.165721418C>T 409-12 409-12 NM_019026.4:c.409-12G>A p.? p.? 5 4 614123 -12 3' 90.945 IX.02 0.93087 6.72274 90.945 8.80779 0.926276 6.71111 -0.0213177 rs145104339 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000800 0.000000 0.001000 0.005000 0.004300 0.005349 0.001512 0.002447 0.000296 0.001274 0.004110 0.008712 0.002831 0.004842 0.008712 1475 36 84 3 24 126 1099 72 31 275752 23810 34328 10138 18838 30656 126144 25436 6402 0.000051 0.000000 0.000000 0.000000 0.000000 0.000065 0.000095 0.000000 0.000000 7 0 0 0 0 1 6 0 0 1461 36 84 3 24 124 1087 72 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8518 4403 12921 80 3 83 0.00930449 0.00068089 0.00638265 0.00930449 0.00068089 0.00638265 81 transition G A G>A 0.000 -0.440 255 PASS . 0.0041 0.01 0.0017 0.01 0.0008 0.002 0.0043 0.001 0.005 . . . . . . 0.4878049 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0007 0.0064 0.0093 0.0007 0.0064 0.0093 . 0.1519 . . . . . . . . 5.407e-03 . . . 0.0014 0.0054 0.0030 0.0004 0.0034 0.0084 0.0029 0.0045 0.0013 0.0052 0.0029 0.0010 0.0034 0.0074 0.0030 0.0045 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.37 0.27 182 ENSG00000143183 TMCO1 TMCO1 . . . . . . 374 0.00575597 64976 364 0.00606808 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145104339 0.011 0.007 . . . . . . . . . . . . . . . . . . 0 0 Name\x3dnsv518886 0.006383 . . . . . 0.0012 0.0053 0.0024 0.0003 0.0013 0.0030 0.0086 0.0044 0.0041 0.0020 0.0058 0.0026 0 0.0012 0.0019 0.0095 0.0074 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs145104339 rs145104339 1 1538 10 1/0 0,255,255 +rs144001430 1 169679710 T C - SELL 10720 Selectin L NM_000655.4 -1 2442 1158 NP_000646.2 substitution intron GRCh37 169679710 169679710 Chr1(GRCh37):g.169679710T>C 43-52 43-52 NM_000655.4:c.43-52A>G p.? p.? 2 1 153240 -52 3' 92.6888 X.18 0.941551 9.20584 92.6888 X.18 0.941551 9.36868 0 New Donor Site 169679711 0.326272 0.179566 69.1999 rs144001430 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000518 0.000344 0.001196 0.000000 0.000000 0.000000 0.000734 0.000000 0.001020 0.001196 16 3 1 0 0 0 11 0 1 30902 8718 836 302 1588 0 14984 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 1 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes 4158 1865 6023 0 1 1 0 0.000535906 0.000166003 0 0.000535906 0.000166003 46 transition A G A>G 0.000 0.125 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.33333334 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . 0.0005 0.0002 . 0.0005 0.0002 . . 0.1969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.46 0.3 182 ENSG00000188404 SELL SELL . . . . . . 39 0.000600222 64976 38 0.000633481 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144001430 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv872541 0.000166 . . . . . . . . . . . . . . 0.0003 0.0005 0.0012 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs144001430 rs144001430 1 1538 10 1/0 0,255,255 +rs145307638 1 172520720 A G - SUCO 1240 SUN domain containing ossification factor NM_016227.3 1 5916 4218 NP_057311.3 substitution missense exon GRCh37 172520720 172520720 Chr1(GRCh37):g.172520720A>G 716 716 NM_016227.3:c.716A>G p.Asp239Gly p.Asp239Gly 3 -47 5' 71.8497 V.18 0.602323 0 71.8497 V.18 0.602323 0 0 Cryptic Acceptor Strongly Activated 172520720 3.91556 0.468592 75.4341 6.07208 0.820196 79.345 rs145307638 yes no Frequency 1 A 0.000000 0 0.000441 0.000000 0.000060 0.000198 0.000000 0.000000 0.000685 0.001126 0.000315 0.001126 121 0 2 2 0 0 86 29 2 274186 23808 33610 10100 18722 30370 125478 25754 6344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 0 2 2 0 0 86 29 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 93 transition A G A>G 1.000 2.788 D Asp GAT 0.461 G Gly GGT 0.162 239 14 8 Cow -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.06 IV.32 255 PASS . . . . . . . . . . . . . . . . 0.41379312 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.512 . @ . . . . . 1 0.708 . . 29.0 . . . . 0.0008 0.0012 . 0.0008 0.0012 . 0.0907 0.223 0.091 c . . . . . 5.051e-04 . . . 0 0.0003 0 0 0.0008 0.0006 0 0 0 0.0004 0 0 0.0008 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.914 @ . . . 0.5 0.39 182 ENSG00000094975 SUCO SUCO . . . 1.000 0.747 . 25 0.000384757 64976 25 0.000416764 59986 Uncertain_significance . 0 . 0.277 . . . . T 0.045 0.002 . . 37 . 0.257 . . 0.264 . . . 0.510 0.386 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.234 . . 0 0 0 0 0 0 . 0.429 . . 0.349 . . . . . . 0 0.632 . . . . . 0.551 . 0.489 . HET 0 rs145307638 . . . . . . . . . . . . XII.61 0.0 . V.78 V.78 . 0.040000 . . . . 0.000769 . 0.399 . . V.78 0 0.0004 6.103e-05 0.0002 0 0.0010 0.0007 0.0004 0 0 0.0006 0 0 0 0.0020 0.0008 0 . . 0.609 . 2.198 2.198000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.432 . 0.893 2.198 1.062 0.0012 . . rs145307638 rs145307638 1 1538 10 1/0 0,255,255 +rs3208835 1 175129955 G T - KIAA0040 28950 KIAA0040 NM_001162893.1 -1 4721 300 NP_001156365.1 substitution missense exon GRCh37 175129955 175129955 Chr1(GRCh37):g.175129955G>T 195 195 NM_001162893.1:c.195C>A p.Asn65Lys p.Asn65Lys 5 616696 328 3' 93.8602 X.34 0.968123 7.54607 93.8602 X.34 0.968123 7.54607 0 rs3208835 yes no Frequency/1000G 2 G 0.000000 0 0.000662 0.000130 0.000086 0.000240 0.000088 0.000137 0.001130 0.001222 0.000882 0.001222 113 2 2 2 1 3 77 22 4 170818 15398 23182 8332 11388 21844 68142 17998 4534 0.000035 0.000000 0.000000 0.000000 0.000000 0.000000 0.000059 0.000111 0.000000 3 0 0 0 0 0 2 1 0 107 2 2 2 1 3 73 20 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.205 1.820 N Asn AAC 0.536 K Lys AAA 0.425 65 11 10 Chicken 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C25 46.24 93.76 Deleterious 0.02 III.82 255 PASS . . . . . . . . . . . . . . . . 0.36585367 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.371 . @ . . . . . 1 0.152 . . 41.0 . . . . . . . . . . 0.8517 -0.033 0.852 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.416 @ . . . 0.53 0.39 182 ENSG00000235750 KIAA0040 KIAA0040 . . . 0.739 0.232 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.658 0.054 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.353 . 0.234 . HET . rs3208835 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522101 . . 0.346 . . III.71 0 0.0007 8.945e-05 0.0001 0.0001 0.0015 0.0012 0.0003 0.0001 0.0002 0.0007 0 0.0034 0 0 0.0010 0.0031 . . 0.428 . . . . . . . . 1.0E-255 1.000 0.715 . 0.249 0.841 . 0.415 . 0.219 . -0.011 . rs3208835 rs3208835 rs3208835 rs3208835 1 1538 10 1/0 0,255,255 +rs138449532 1 177917587 G A - CRYZL2P-SEC16B 53757 CRYZL2P-SEC16B readthrough NM_001356505.1 -1 5302 3186 NP_001343434.1 substitution intron GRCh37 177917587 177917587 Chr1(GRCh37):g.177917587G>A 1546-510 1546-510 NM_001356505.1:c.1546-510C>T p.? p.? 21 20 -510 3' 81.4893 10.0963 0.979249 8.66445 81.4893 10.0963 0.979249 8.66445 0 Cryptic Acceptor Weakly Activated 177917578 II.15 0.006325 69.2682 2.26241 0.016039 71.98 rs138449532 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.007200 0.001000 0.008000 0.000000 0.005288 0.001051 0.004254 0.005356 0.000085 0.006816 0.006897 0.004914 0.008628 0.006897 923 16 105 45 1 154 462 99 41 174536 15224 24684 8402 11744 22594 66988 20148 4752 0.000069 0.000000 0.000000 0.000000 0.000000 0.000266 0.000060 0.000099 0.000000 6 0 0 0 0 3 2 1 0 911 16 105 45 1 148 458 97 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.851 255 PASS . 0.0032 . . 0.01 . 0.0032 . 0.001 0.008 0.0072 . SEC16B:uc009wwy.1:exon1:c.C148T:p.P50S . . . 0.5277778 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||SEC16B|mRNA|CODING|NM_033127|) . . . . . . . 0.6026 . . . . . . . . 5.721e-03 . . . 0.0011 0.0069 0 0 0.0333 0.0081 0 0.0074 0 0.0067 0 0 0.0080 0.0069 0 0.0073 . nonsynonymous_SNV . . . . ncRNA_intronic exonic intronic . . . 0.0032 . . . 0.42 0.33 182 ENSG00000254154 SEC16B SEC16B . . . . . . 301 0.00463248 64976 286 0.00476778 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs138449532 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . II.25 0.0014 0.0053 0.0042 0.0053 9.879e-05 0.0049 0.0067 0.0080 0.0068 0.0008 0.0050 0.0048 0.0066 0 0.0049 0.0077 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138449532 rs138449532 1 1538 10 1/0 0,255,255 +rs138449532 1 177917587 G A - SEC16B 30301 SEC16 homolog B, endoplasmic reticulum export factor NM_033127.3 -1 4350 3183 NP_149118.2 Q96JE7 substitution intron GRCh37 177917587 177917587 Chr1(GRCh37):g.177917587G>A 1546-510 1546-510 NM_033127.3:c.1546-510C>T p.? p.? 13 12 612855 -510 3' 81.4893 10.0963 0.979249 8.66445 81.4893 10.0963 0.979249 8.66445 0 Cryptic Acceptor Weakly Activated 177917578 II.15 0.006325 69.2682 2.26241 0.016039 71.98 rs138449532 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.007200 0.001000 0.008000 0.000000 0.005288 0.001051 0.004254 0.005356 0.000085 0.006816 0.006897 0.004914 0.008628 0.006897 923 16 105 45 1 154 462 99 41 174536 15224 24684 8402 11744 22594 66988 20148 4752 0.000069 0.000000 0.000000 0.000000 0.000000 0.000266 0.000060 0.000099 0.000000 6 0 0 0 0 3 2 1 0 911 16 105 45 1 148 458 97 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.851 255 PASS . 0.0032 . . 0.01 . 0.0032 . 0.001 0.008 0.0072 . SEC16B:uc009wwy.1:exon1:c.C148T:p.P50S . . . 0.5277778 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||SEC16B|mRNA|CODING|NM_033127|) . . . . . . . 0.6026 . . . . . . . . 5.721e-03 . . . 0.0011 0.0069 0 0 0.0333 0.0081 0 0.0074 0 0.0067 0 0 0.0080 0.0069 0 0.0073 . nonsynonymous_SNV . . . . ncRNA_intronic exonic intronic . . . 0.0032 . . . 0.42 0.33 182 ENSG00000254154 SEC16B SEC16B . . . . . . 301 0.00463248 64976 286 0.00476778 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs138449532 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . II.25 0.0014 0.0053 0.0042 0.0053 9.879e-05 0.0049 0.0067 0.0080 0.0068 0.0008 0.0050 0.0048 0.0066 0 0.0049 0.0077 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138449532 rs138449532 1 1538 10 1/0 0,255,255 +rs35619308 1 178490387 A G - TEX35 25366 Testis expressed 35 NM_032126.4 1 1028 702 NP_115502.2 Q5T0J7 substitution missense exon GRCh37 178490387 178490387 Chr1(GRCh37):g.178490387A>G 574 574 NM_032126.4:c.574A>G p.Asn192Asp p.Asn192Asp 8 -13 5' 77.9039 6.58677 0.959688 0 77.9039 6.58677 0.959688 0.644004 0 rs35619308 yes no Frequency/1000G 2 A 0.000000 0 0.000998 0.000000 0.003100 0.000000 0.002000 0.000000 0.002893 0.000291 0.003515 0.017734 0.000106 0.002469 0.002849 0.000659 0.005877 0.017734 802 7 121 180 2 76 361 17 38 277212 24028 34420 10150 18870 30782 126702 25794 6466 0.000036 0.000000 0.000058 0.000591 0.000000 0.000065 0.000000 0.000000 0.000000 5 0 1 3 0 1 0 0 0 792 7 119 174 2 74 361 17 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4406 12981 25 0 25 0.00290698 0 0.00192219 0.00290698 0 0.00192219 235 transition A G A>G 0.126 0.205 N Asn AAC 0.536 D Asp GAC 0.539 192 11 10 Megabat 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 64.77 23.I Tolerated 0.05 III.70 bad 7.677E-5 0.000266 255 PASS . 0.0009 . . 0.0026 . 0.001 . . 0.002 0.0031 . . . . . 0.5294118 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.637 . @ . . . . . 1 0.171 . . 102.0 . . . . 0.0019 0.0029 . 0.0019 0.0029 . -0.0685 -0.093 -0.069 c . . . . . 2.849e-03 . . . 0.0002 0.0034 0.0052 0.0002 0.0003 0.0047 0.0084 0.0023 0 0.0029 0.0052 0 0.0003 0.0037 0.0130 0.0023 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.192 . . exonic exonic exonic . . 0.197 0.0010 . . . 0.26 0.71 182 ENSG00000240021 TEX35 TEX35 . . . 0.139 0.172 . 231 0.00355516 64976 226 0.00376755 59986 Likely_benign . 0 . 0.272 . . . . D 0.562 0.035 . . 37 . 0.387 . . 0.370 . . . 0.225 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.655 . . 0 0 0 0 0 0 . 0.364 . . 0.335 . . . . . . 0 0.531 . . . . . 0.150 . 0.140 . HET 0.03 rs35619308 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 V.11 0.0 ENST00000442872 IV.96 I.13 . 0.000000 . . . . 0.001922 . 0.244 . . . 6.534e-05 0.0030 0.0035 0.0175 5.798e-05 0.0007 0.0029 0.0067 0.0025 0.0007 0.0017 0.0024 0.0265 0.0006 0.0003 0.0023 0.0010 . . 0.133 . 0.817 0.817000 . . 0.020000 . . 1.0E-255 0.975 0.345 . 0.512 0.869 . 0.361 . 0.893 0.817 0.042 0.0029 rs35619308 rs35619308 rs35619308 rs35619308 1 1538 10 1/0 0,255,255 +rs187452139 1 178515190 C A - C1orf220 33805 Chromosome 1 open reading frame 220 NR_033186.1 1 2577 0 substitution intron GRCh37 178515190 178515190 Chr1(GRCh37):g.178515190C>A 781+152 781+152 NR_033186.1:n.781+152C>A p.? p.? 2 2 152 5' 94.6711 X.63 0.998151 5.68367 94.6711 X.63 0.998151 5.68367 0 rs187452139 yes no Frequency/1000G 2 C 0.000000 0 0.009185 0.014400 0.012300 0.000000 0.010900 0.005800 0.007876 0.014197 0.015513 0.016556 0.000000 0.000000 0.004797 0.005438 0.011224 0.016556 244 124 13 5 0 0 72 19 11 30980 8734 838 302 1622 0 15010 3494 980 0.008197 0.000000 0.076923 0.000000 0.000000 0.000000 0.000000 0.000000 0.090909 2 0 1 0 0 0 0 0 1 240 124 11 5 0 0 72 19 9 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion C A C>A 0.000 -1.651 251 PASS 0.0041 0.01 0.01 . 0.01 0.014 0.0092 0.0058 . 0.011 0.012 . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||C1orf220|Non-coding_transcript|NON_CODING|NR_033186|) . . . . . . . -0.2856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0092 . . . 0.21 0.21 182 . C1orf220 C1orf220 . . . . . . 382 0.00587909 64976 336 0.00560131 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187452139 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527862 . . . . . . . . . . . . . . . 0.0142 0.0079 0.0155 0.0166 0 0.0054 0.0048 0.0112 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . 0.01 . . rs187452139 rs187452139 1 1538 10 1/0 0,255,255 +rs181895952 1 179033316 C T - FAM20B 23017 Family with sequence similarity 20 member B NM_001324310.1 1 5848 1230 NP_001311239.1 O75063 substitution intron GRCh37 179033316 179033316 Chr1(GRCh37):g.179033316C>T 746+83 746+83 NM_001324310.1:c.746+83C>T p.? p.? 5 5 611063 83 5' 87.8485 8.76378 0.984189 8.25421 87.8485 8.76378 0.984189 8.25421 0 rs181895952 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.011900 0.000000 0.006909 0.001031 0.004773 0.003311 0.000000 0.000000 0.005995 0.028048 0.012220 0.028048 214 9 4 1 0 0 90 98 12 30976 8728 838 302 1620 0 15012 3494 982 0.009346 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.000000 0.000000 2 0 0 0 0 0 2 0 0 210 9 4 1 0 0 86 98 12 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 0.448 255 PASS . 0.0041 . . 0.01 . 0.0024 . . 0.012 . . . . . . 0.42372882 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . INTRON(MODIFIER||||FAM20B|mRNA|CODING|NM_014864|) . . . . . . . 0.4046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.4 0.11 182 ENSG00000116199 FAM20B FAM20B . . . . . . 473 0.00727961 64976 461 0.00768513 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181895952 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv3721 . . . . . . . . . . . . . . . 0.0010 0.0069 0.0048 0.0033 0 0.0280 0.0060 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs181895952 rs181895952 1 1538 10 1/0 0,255,255 +rs150381478 1 179033503 G A - FAM20B 23017 Family with sequence similarity 20 member B NM_001324310.1 1 5848 1230 NP_001311239.1 O75063 substitution synonymous exon GRCh37 179033503 179033503 Chr1(GRCh37):g.179033503G>A 810 810 NM_001324310.1:c.810G>A p.Pro270= p.Pro270Pro 6 611063 64 3' 90.0779 9.58046 0.977762 5.73102 90.0779 9.58046 0.977762 5.46068 0 rs150381478 yes no Frequency 1 G 0.000000 0 0.000047 0.000042 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 0.000095 13 1 0 0 0 0 12 0 0 277092 24028 34416 10150 18870 30780 126602 25784 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 0 0 0 0 12 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 167 transition G A G>A 0.000 -5.444 P Pro CCG 0.115 P Pro CCA 0.274 270 255 PASS . . . . . . . . . . . ENSG00000116199:ENST00000263733:exon6:c.G810A:p.P270P FAM20B:uc001gmc.3:exon6:c.G810A:p.P270P FAM20B:NM_014864:exon6:c.G810A:p.P270P . . 0.4814815 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P270|FAM20B|mRNA|CODING|NM_014864|NM_014864.ex.6) . 0.0001 0.0001 . 0.0001 0.0001 . -0.0734 . . . . . . . . 3.946e-05 . . . 0 4.415e-05 0 0 0 9.512e-05 0 0 0 2.829e-05 0 0 0 5.529e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.19 182 ENSG00000116199 FAM20B FAM20B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150381478 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv3721 0.000077 . . . . . 0 4.469e-05 0 0 0 0 9.858e-05 0 0 0.0001 6.457e-05 0 0 0 0 6.661e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs150381478 rs150381478 1 1538 10 1/0 0,255,255 +rs139352498 1 180044304 A G - CEP350 24238 Centrosomal protein 350kDa NM_014810.4 1 13456 9354 NP_055625.4 Q5VT06 substitution missense exon GRCh37 180044304 180044304 Chr1(GRCh37):g.180044304A>G 5715 5715 NM_014810.4:c.5715A>G p.Ile1905Met p.Ile1905Met 28 -53 5' 81.9717 8.48854 0.874441 0.769712 81.9717 8.48854 0.874441 1.36854 0 rs139352498 yes no Frequency/1000G 2 A 0.000000 0 0.003195 0.000800 0.003100 0.000000 0.008000 0.005800 0.005320 0.001006 0.005047 0.012869 0.000000 0.003701 0.007416 0.001436 0.008696 0.012869 1466 24 173 130 0 113 933 37 56 275552 23864 34276 10102 18762 30536 125812 25760 6440 0.000087 0.000000 0.000175 0.000396 0.000000 0.000000 0.000095 0.000000 0.000311 12 0 3 2 0 0 6 0 1 1442 24 167 126 0 113 921 37 54 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4397 12941 56 9 65 0.00651163 0.00204267 0.00499769 0.00651163 0.00204267 0.00499769 60 transition A G A>G 0.008 -0.602 I Ile ATA 0.163 M Met ATG 1.000 1905 10 7 Lesser hedgehog tenrec 2 1 2 0 0 5.II 5.VII 111 105 10 C0 10.XII 0.00 Tolerated 0.36 IV.32 good 1.738E-1 0.0005558 255 PASS . 0.0032 0.01 . 0.01 0.0008 0.0032 0.0058 . 0.008 0.0031 ENSG00000135837:ENST00000367607:exon28:c.A5715G:p.I1905M . CEP350:NM_014810:exon28:c.A5715G:p.I1905M . . 0.36666667 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.118 . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I1905M|CEP350|mRNA|CODING|NM_014810|NM_014810.ex.28) 0.002 0.005 0.0065 0.002 0.005 0.0065 . -0.4543 -0.380 -0.454 c . . . . . 5.025e-03 . . . 0.0014 0.0062 0.0049 0 0.0006 0.0099 0.0048 0.0041 0.0015 0.0054 0.0050 0 0.0010 0.0077 0.0096 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.517 . . exonic exonic exonic . . 0.100 0.0032 . . . 0.61 0.2 182 ENSG00000135837 CEP350 CEP350 . . . 0.065 0.154 . 396 0.00609456 64976 380 0.00633481 59986 Likely_benign . 0 . 0.263 . . . . T 0.218 0.008 . . 37 . 0.107 . . 0.254 . . . 0.094 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.205 . . 0.127 . . . . . . 0 0.241 . . . . . 0.092 . 0.185 . HET 0.15 rs139352498 . . . . . . . 0.003205128205128205 0.0 0.008287292817679558 0.0 0.005277044854881266 4.0482 0.00214 ENST00000429851 V.81 -0.896 . . . . . . 0.004998 . 0.299 . . . 0.0011 0.0054 0.0051 0.0131 0 0.0014 0.0073 0.0093 0.0037 0.0009 0.0048 0.0012 0.0066 0 0.0014 0.0086 0.0051 . . 0.730 . -0.072 -0.072000 . . . . . 1.0E-255 0.977 0.347 . 0.750 0.955 . 0.175 . 0.251 -0.072 0.126 0.01 . . rs139352498 rs139352498 1 1538 10 1/0 0,255,255 +rs149144883 1 180144375 G A - QSOX1 9756 Quiescin Q6 sulfhydryl oxidase 1 NM_002826.4 1 3316 2244 NP_002817.2 O00391 substitution intron GRCh37 180144375 180144375 Chr1(GRCh37):g.180144375G>A 367-81 367-81 NM_002826.4:c.367-81G>A p.? p.? 3 2 603120 -81 3' 86.1184 X.22 0.908357 7.18376 86.1184 X.22 0.908357 6.95739 0 rs149144883 yes no Frequency/1000G 2 G 0.000000 0 0.004393 0.000800 0.006100 0.000000 0.010900 0.005800 0.006992 0.001147 0.003580 0.006623 0.000000 0.000000 0.011903 0.004310 0.008197 0.011903 216 10 3 2 0 0 178 15 8 30892 8720 838 302 1622 0 14954 3480 976 0.023148 0.000000 0.000000 0.000000 0.000000 0.000000 0.022472 0.066667 0.000000 5 0 0 0 0 0 4 1 0 206 10 3 2 0 0 170 13 8 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition G A G>A 0.000 0.448 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.0044 0.0058 . 0.011 0.0061 . . . . . 0.6086956 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.1037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0044 . . . 0.33 0.16 182 ENSG00000116260 QSOX1 QSOX1 . . . . . . 560 0.00861857 64976 538 0.00896876 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149144883 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832004 . . . . . . . . . . . . . . . 0.0011 0.0070 0.0036 0.0066 0 0.0043 0.0119 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149144883 rs149144883 1 1538 10 1/0 0,255,255 +rs187650141 1 181690038 G A - CACNA1E 1392 Calcium channel, voltage-dependent, R type, alpha 1E subunit NM_001205293.1 1 15087 6942 NP_001192222.1 Q15878 substitution intron GRCh37 181690038 181690038 Chr1(GRCh37):g.181690038G>A 1956+47 1956+47 NM_001205293.1:c.1956+47G>A p.? p.? 15 15 601013 47 5' 84.4974 IX.89 0.954613 5.00074 84.4974 IX.89 0.954613 4.68265 0 rs187650141 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.005100 0.000000 0.003000 0.005800 0.003257 0.000822 0.003613 0.003501 0.000000 0.005033 0.004368 0.000165 0.003910 0.005033 789 18 110 33 0 130 471 4 23 242230 21910 30442 9426 16674 25832 107842 24222 5882 0.000033 0.000000 0.000197 0.000000 0.000000 0.000077 0.000000 0.000000 0.000000 4 0 3 0 0 1 0 0 0 781 18 104 33 0 128 471 4 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8282 3872 12154 30 6 36 0.00360924 0.00154719 0.00295324 0.00360924 0.00154719 0.00295324 37 transition G A G>A 0.000 0.448 255 PASS . 0.0018 0.01 . 0.0026 . 0.0024 0.0058 . 0.003 0.0051 . . . . . 0.4408602 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . 0.0015 0.003 0.0036 0.0015 0.003 0.0036 . 0.2580 . . . . . . . . 2.920e-03 . . . 0.0003 0.0036 0.0036 0 0 0.0048 0.0078 0.0049 0.0003 0.0031 0.0034 0 0.0004 0.0037 0.0103 0.0048 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.46 0.51 182 ENSG00000198216 CACNA1E CACNA1E . . . . . . 286 0.00440163 64976 274 0.00456773 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187650141 . . . . . . . . . . . . . . . . . . . . . . . 0.002953 . . . . II.76 0.0007 0.0033 0.0036 0.0033 0 0.0002 0.0043 0.0037 0.0050 0.0010 0.0029 0.0024 0.0099 0 0 0.0048 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187650141 rs187650141 1 1538 10 1/0 0,255,255 +rs371520130 1 184446619 C T - C1orf21 15494 Chromosome 1 open reading frame 21 NM_030806.3 1 10308 366 NP_110433.1 Q9H246 substitution 5'UTR GRCh37 184446619 184446619 Chr1(GRCh37):g.184446619C>T -25 -25 NM_030806.3:c.-25C>T p.? p.? 2 100 3' 99.1532 XI.61 0.995908 10.408 99.1532 XI.61 0.995908 10.408 0 rs371520130 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000614 0.000418 0.000275 0.000000 0.000054 0.001088 0.000829 0.000312 0.000478 0.001088 166 10 9 0 1 32 103 8 3 270464 23902 32772 9782 18446 29406 124202 25676 6278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 166 10 9 0 1 32 103 8 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4404 13000 4 2 6 0.000465116 0.000453926 0.000461326 0.000465116 0.000453926 0.000461326 51 transition C T C>T 1.000 0.528 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.48 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . UTR_5_PRIME(MODIFIER||||C1orf21|mRNA|CODING|NM_030806|NM_030806.ex.2) 0.0005 0.0005 0.0005 0.0005 0.0005 0.0005 . I.81 . . . . . . . . 5.921e-04 . . . 0.0006 0.0006 0 0.0002 0 0.0006 0.0014 0.0011 0.0006 0.0006 0 0.0001 0.0003 0.0007 0.0015 0.0011 . . . . . . UTR5 UTR5 UTR5 . . . 0.0002 . . . 0.8 0.65 182 ENSG00000116667 C1orf21 C1orf21 ENST00000235307:c.-25C>T uc001gqv.1:c.-25C>T NM_030806:c.-25C>T . . . 46 0.000707954 64976 45 0.000750175 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371520130 . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0005 0.0006 0.0003 0 5.943e-05 0.0003 0.0008 0.0006 0.0011 0.0003 0.0005 0 0 0 0.0006 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs371520130 . 1 1538 10 1/0 0,255,255 +rs140191774 1 184853890 T C - FAM129A 16784 Family with sequence similarity 129, member A NM_052966.3 -1 6969 2787 NP_443198.1 Q9BZQ8 substitution missense exon GRCh37 184853890 184853890 Chr1(GRCh37):g.184853890T>C 478 478 NM_052966.3:c.478A>G p.Lys160Glu p.Lys160Glu 5 45 3' 75.5935 V.27 0.511275 1.87116 75.5935 V.27 0.511275 2.26653 0 rs140191774 yes no Frequency/1000G 2 T 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.006000 0.008600 0.004227 0.001040 0.007235 0.010053 0.000000 0.000357 0.005562 0.001396 0.006811 0.010053 1171 25 249 102 0 11 704 36 44 277048 24034 34414 10146 18858 30780 126568 25788 6460 0.000022 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 3 0 1 0 0 0 2 0 0 1165 25 247 102 0 11 700 36 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8556 4397 12953 44 9 53 0.00511628 0.00204267 0.00407504 0.00511628 0.00204267 0.00407504 92 transition A G A>G 0.819 1.900 K Lys AAG 0.575 E Glu GAG 0.583 160 12 7 Platypus 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 0.21 III.28 255 PASS . 0.0046 0.02 . 0.01 . 0.0024 0.0086 . 0.006 . ENSG00000135842:ENST00000367511:exon5:c.A478G:p.K160E FAM129A:uc001gra.4:exon5:c.A478G:p.K160E FAM129A:NM_052966:exon5:c.A478G:p.K160E . . 0.4375 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.362 . @ . . . . . 1 0.928 . . 112.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K160E|FAM129A|mRNA|CODING|NM_052966|NM_052966.ex.5) 0.002 0.0041 0.0051 0.002 0.0041 0.0051 . 0.4899 0.485 0.490 c . . . . . 4.017e-03 . . . 0.0010 0.0046 0.0074 0 0.0013 0.0074 0.0056 0.0002 0.0011 0.0038 0.0075 0 0.0017 0.0053 0.0043 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.170 . . exonic exonic exonic . . 0.861 0.0024 . . . 0.26 0.35 182 ENSG00000135842 FAM129A FAM129A . . . 0.997 0.350 . 290 0.00446319 64976 278 0.00463441 59986 Uncertain_significance . 0 . 0.559 . . . . T 0.178 0.007 . . 37 . 0.175 . . 0.048 . . . 0.622 0.277 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.689 . . 0.616 . . . . . . 0 0.221 . . . . . 0.536 . 0.542 . HET 0.14 rs140191774 . 0.029 . . . . . 0.004578754578754579 0.0 0.016574585635359115 0.0 0.005277044854881266 XII.35 0.001873 ENST00000367511 V.63 V.63 . 0.200000 Q9BZQ8 . . . 0.004075 . 0.404 . . V.63 0.0010 0.0044 0.0071 0.0099 0 0.0013 0.0058 0.0069 0.0004 0.0011 0.0032 0.0107 0.0166 0 0.0017 0.0041 0.0061 . . 0.730 . 2.144 2.144000 . . 0.200000 . . 1.0E-255 0.966 0.337 . 0.436 0.735 . 0.555 . 0.603 2.144 0.991 0.02 . . rs140191774 rs140191774 1 1538 10 1/0 0,252,255 +. 1 196392277 AC A - KCNT2 18866 Potassium sodium-activated channel subfamily T member 2 NM_198503.4 -1 6120 3408 NP_940905.2 Q6UVM3 deletion intron GRCh37 196392278 196392278 Chr1(GRCh37):g.196392278del 1122-35 1122-35 NM_198503.4:c.1122-35del p.? p.? 12 11 610044 -35 3' 77.9342 X.96 0.930072 5.51685 77.9342 X.96 0.930072 5.37107 0 rs561687480 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.002000 0.000000 0.002000 0.000000 0.004582 0.000485 0.000785 0.007754 0.000065 0.001659 0.007703 0.004286 0.005234 0.007754 1018 10 22 66 1 38 751 102 28 222178 20616 28032 8512 15476 22904 97490 23798 5350 0.000081 0.000000 0.000000 0.000235 0.000000 0.000175 0.000103 0.000084 0.000000 9 0 0 1 0 2 5 1 0 1000 10 22 64 1 34 741 100 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8197 4263 12460 51 1 52 0.00618332 0.000234522 0.00415601 0.00618332 0.000234522 0.00415601 40 G 255 Pass . . . . . . 0.0008 . . 0.002 0.002 . . . . . 0.61538464 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . 0.0002 0.0042 0.0062 0.0002 0.0042 0.0062 . . . . . . . . . . 3.987e-03 . . . 0.0002 0.0044 0.0007 0.0003 0.0045 0.0080 0.0065 0.0021 0.0002 0.0049 0.0006 0 0.0052 0.0094 0.0051 0.0022 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000162687 KCNT2 KCNT2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs561687480 . . . . . . . . . . . . . . . . . . . . . . . 0.004155 . . . . . 0.0003 0.0041 0.0007 0.0077 7.194e-05 0.0042 0.0067 0.0046 0.0017 0.0008 0.0077 0.0024 0.0099 0 0.0046 0.0135 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0062 . . . . 1 1538 10 1.I 0,12,21 +. 1 200143065 TTT T - NR5A2 7984 Nuclear receptor subfamily 5, group A, member 2 NM_205860.2 1 5086 1626 NP_995582.1 O00482 deletion intron GRCh37 200143082 200143083 Chr1(GRCh37):g.200143082_200143083del 1379-9 1379-8 NM_205860.2:c.1379-9_1379-8del p.? p.? 8 7 604453 -8 3' 95.4805 9.89545 0.855856 X.77 95.4805 9.89545 0.855856 10.365 0 rs756730577 yes no Frequency 1 0.000000 0 0.033361 0.082626 0.054984 0.046813 0.027920 0.032003 0.019927 0.010791 0.018919 0.082626 1584 701 139 47 87 93 415 81 21 47480 8484 2528 1004 3116 2906 20826 7506 1110 0.001516 0.008487 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 36 36 0 0 0 0 0 0 0 683 39 91 42 61 63 318 55 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.5217391 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000116833 NR5A2 NR5A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv873093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,28 +rs6674599 1 200818980 C G - CAMSAP2 29188 Calmodulin regulated spectrin-associated protein family, member 2 NM_001297707.1 1 7388 4470 NP_001284636.1 Q08AD1 substitution missense exon GRCh37 200818980 200818980 Chr1(GRCh37):g.200818980C>G 3116 3116 NM_001297707.1:c.3116C>G p.Pro1039Arg p.Pro1039Arg 12 613775 -383 5' 67.987 2.02065 0.015347 0 67.987 2.02065 0.015347 0 0 New Donor Site 200818979 5.55026 0.230295 76.4998 rs6674599 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.004992 0.001500 0.009200 0.000000 0.010900 0.004300 0.007828 0.002289 0.005117 0.007192 0.000053 0.007017 0.012156 0.002095 0.008503 0.012156 2169 55 176 73 1 216 1539 54 55 277072 24026 34398 10150 18868 30782 126600 25780 6468 0.000144 0.000000 0.000233 0.000000 0.000000 0.000195 0.000205 0.000000 0.000000 20 0 4 0 0 3 13 0 0 2129 55 168 73 1 210 1513 54 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8514 4395 12909 86 11 97 0.01 0.0024966 0.0074581 0.01 0.0024966 0.0074581 120 transversion C G C>G 1.000 4.241 P Pro CCT 0.283 R Arg CGT 0.082 1039 12 8 Zebrafish -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 248.24 0.00 Tolerated 0.69 III.35 255 PASS 0.002 0.0046 0.0028 . 0.01 0.0015 0.005 0.0043 . 0.011 0.0092 . . . . . 0.5 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.491 . @ . . . . . 1 0.462 . . 40.0 . . . 0.0025 0.0075 0.01 0.0025 0.0075 0.01 . 0.4990 0.566 0.499 c . . . . . 7.940e-03 . . . 0.0016 0.0079 0.0037 0 0.0024 0.0127 0.0098 0.0067 0.0016 0.0076 0.0038 0 0.0029 0.0113 0.0072 0.0068 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.171 . . exonic exonic exonic . . 0.955 0.0050 . . . 0.74 0.38 182 ENSG00000118200 CAMSAP2 CAMSAP2 . . . 1.000 0.747 . 697 0.010727 64976 672 0.0112026 59986 Uncertain_significance . 0 . 0.373 . . . . . . . . . 37 . 0.258 . . 0.001 . . . 0.092 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.425 . . 0 0 0 0 0 0 . 0.588 . . 0.537 . . . . . . 0 0.465 . . . . . 0.987 . 0.865 . HET 0.03 rs6674599 . . . . . . . 0.004578754578754579 0.0020325203252032522 0.0027624309392265192 0.0 0.010554089709762533 20.3214 0.002675 . V.92 V.92 . 0.100000 . . . . 0.007458 . 0.729 . . V.92 0.0024 0.0080 0.0049 0.0071 5.798e-05 0.0022 0.0123 0.0089 0.0070 0.0022 0.0067 0.0119 0.0099 0 0.0011 0.0110 0.0061 . . 0.730 . 2.804 2.804000 . . 0.100000 . . 1.0E-255 1.000 0.715 . 0.750 0.996 . 0.555 . 0.490 2.804 0.871 0.01 rs6674599 rs6674599 rs6674599 rs6674599 1 1538 10 1/0 0,255,255 +rs183195890 1 201013535 G A - CACNA1S 1397 Calcium channel, voltage-dependent, L type, alpha 1S subunit NM_000069.2 -1 6168 5622 NP_000060.2 Q13698 substitution missense exon GRCh37 201013535 201013535 Chr1(GRCh37):g.201013535G>A 4718 4718 NM_000069.2:c.4718C>T p.Thr1573Met p.Thr1573Met 39 114208 50 3' 86.9404 8.92783 0.475303 9.66093 86.9404 8.92783 0.475303 9.39695 0 Cryptic Acceptor Strongly Activated 201013526 4.33313 0.066943 74.5214 4.52121 0.121173 77.2332 rs183195890 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000322 0.000042 0.000465 0.000000 0.001113 0.000032 0.000372 0.000039 0.000310 0.001113 89 1 16 0 21 1 47 1 2 276636 23984 34406 10126 18866 30782 126404 25608 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 89 1 16 0 21 1 47 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 71 transition C T C>T 1.000 5.290 T Thr ACG 0.116 M Met ATG 1.000 1573 15 5 Tetraodon -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0.01 III.61 good 1.177E-2 0.003568 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . CACNA1S:uc001gvv.3:exon39:c.C4718T:p.T1573M CACNA1S:NM_000069:exon39:c.C4718T:p.T1573M . . 0.54310346 . . @ 63 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.750 . @ . . . . . 1 0.547 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1573M|CACNA1S|mRNA|CODING|NM_000069|NM_000069.ex.39) . 0.0001 0.0001 . 0.0001 0.0001 . 0.3590 0.373 0.359 c . . . . . 2.526e-04 . . . 0 0.0002 0.0003 0 0 0.0004 0.0014 0 0 0.0003 0.0003 0.0006 0 0.0004 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.960 . . exonic exonic exonic . . 0.632 0.0004 . . . 0.38 0.35 182 ENSG00000081248 CACNA1S CACNA1S . . . 1.000 0.747 . 50 0.000769515 64976 48 0.000800187 59986 Uncertain_significance . 0 . 0.005 . . . . D 0.792 0.113 . . 37 . 0.941 . . 0.847 . . . 0.365 0.355 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.368 . . 0 0 0 0 0 0 . 0.501 . . 0.401 . . . . . . 0 0.784 . . . . . 0.892 . 0.319 . HET 0 rs183195890 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 18.0493 0.0 . IV.89 IV.89 . 0.000000 Q13698 . . Name\x3dnsv4054 0.000077 . 0.690 . . IV.89 6.543e-05 0.0003 0.0005 0 0.0012 4.521e-05 0.0004 0.0004 3.249e-05 0 9.717e-05 0 0 0.0006 0 0.0001 0 . . 0.283 . 2.256 2.256000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.122 0.412 . 0.972 . 0.535 2.256 0.917 0.0013 . . rs183195890 rs183195890 1 1538 10 1/0 0,255,255 +. 1 201178696 G C - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178696 201178696 Chr1(GRCh37):g.201178696G>C 4675 4675 NM_001164586.1:c.4675G>C p.Gly1559Arg p.Gly1559Arg 12 617309 3486 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 Cryptic Donor Strongly Activated 201178697 3.99481 0.560552 78.1021 6.52318 0.825094 78.1486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29586 8332 800 292 1540 0 14288 3392 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 53 Genomes transversion G C G>C 0.709 0.851 G Gly GGG 0.250 R Arg CGG 0.207 1559 20 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 180 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.G4675C:p.G1559R IGFN1:uc001gwc.3:exon12:c.G4675C:p.G1559R IGFN1:NM_001164586:exon12:c.G4675C:p.G1559R . . 0.11372549 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.492 . @ . . . . . 1 0.150 . . 255.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G1559R|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -0.8225 -0.963 -0.822 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.964 . . exonic exonic exonic . . 0.171 @ . . . . . . ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.922 0.348 . . 37 . 0.878 . . 0.767 . . . . 0.494 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.065 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.501 . . . . . 0.171 . 0.084 . LowAF . . . . . . . . . . . . . . V.97 . ENST00000335211 1.VII 0.686 . . . . . Name\x3desv25305 . . 0.212 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.133 . 0.054 0.054000 . . . . . 1.0E-180 0.000 0.063 . 0.043 0.012 . 0.232 . 0.005 0.054 0.150 . . . . . 1 1538 10 1/0 0,187,255 +. 1 201178705 A G - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178705 201178705 Chr1(GRCh37):g.201178705A>G 4684 4684 NM_001164586.1:c.4684A>G p.Asn1562Asp p.Asn1562Asp 12 617309 3495 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28152 7876 782 284 1464 0 13560 3272 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 57 Genomes transition A G A>G 0.000 0.044 N Asn AAT 0.464 D Asp GAT 0.461 1562 20 1 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 180 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.A4684G:p.N1562D IGFN1:uc001gwc.3:exon12:c.A4684G:p.N1562D IGFN1:NM_001164586:exon12:c.A4684G:p.N1562D . . 0.1119403 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.136 . @ . . . . . 1 0.126 . . 268.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N1562D|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.2921 -1.449 -1.292 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.879 . . exonic exonic exonic . . 0.096 @ . . . . . . ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.414 0.019 . . 37 . 0.679 . . 0.540 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.127 . . . . . 0.190 . 0.039 . LowAF . . . . . . . . . . . . . . 6.0647 . ENST00000335211 I.71 -1.02 . . . . . Name\x3desv25305 . . 0.004 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.133 . -0.656 -0.656000 . . . . . 1.0E-180 0.000 0.063 . 0.043 0.001 . 0.008 . 0.027 -0.656 -1.219 . . . . . 1 1538 10 1/0 0,185,255 +rs200427142 1 201178708 A G - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178708 201178708 Chr1(GRCh37):g.201178708A>G 4687 4687 NM_001164586.1:c.4687A>G p.Lys1563Glu p.Lys1563Glu 12 617309 3498 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 rs200427142 no no 0 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000250 0.000033 3 0 0 0 0 0 2 0 1 144684 13664 21488 7132 10418 19254 61198 7536 3994 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.198 K Lys AAG 0.575 E Glu GAG 0.583 1563 20 1 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 192 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.A4687G:p.K1563E IGFN1:uc001gwc.3:exon12:c.A4687G:p.K1563E IGFN1:NM_001164586:exon12:c.A4687G:p.K1563E . . 0.14007781 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.110 . . 257.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K1563E|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.2094 -1.363 -1.209 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.895 . . exonic exonic exonic . . 0.108 @ . . . 0.36 0.46 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.717 0.073 . . 37 . 0.721 . . 0.577 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.022 . . . . . 0.232 . 0.009 . LowAF . rs200427142 . . . . . . . . . . . . VI.63 . ENST00000335211 I.71 -0.667 . . . . . Name\x3desv25305 . . 0.001 . . . 0 0 0 0 0 0 0 0 0 0 0.0001 0 0 0 0 0.0002 0.0013 . . 0.133 . -0.645 -0.645000 . . . . . 9.999999999999999E-193 0.000 0.063 . 0.016 0.001 . 0.044 . 0.002 -0.645 -1.748 . . . rs200427142 rs200427142 1 1538 10 1/0 0,189,255 +rs201505263 1 201178844 T C - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178844 201178844 Chr1(GRCh37):g.201178844T>C 4823 4823 NM_001164586.1:c.4823T>C p.Val1608Ala p.Val1608Ala 12 617309 3634 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 rs201505263 no no 0 0.000000 0 0.000550 0.003504 0.000065 0.000136 0.000739 0.000000 0.000503 0.001202 0.001083 0.003504 56 19 1 1 3 0 22 7 3 101728 5422 15296 7352 4060 17228 43774 5826 2770 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 19 1 1 3 0 22 7 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.086 V Val GTT 0.178 A Ala GCT 0.263 1608 20 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 146 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.T4823C:p.V1608A IGFN1:uc001gwc.3:exon12:c.T4823C:p.V1608A IGFN1:NM_001164586:exon12:c.T4823C:p.V1608A . . 0.110552765 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.073 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V1608A|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.6860 -1.819 -1.686 c . . . . . . . . . 0.0048 0.0012 0.0044 0 0 0.0020 0 0 0.0038 0.0010 0.0056 0 0 0.0019 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.874 . . exonic exonic exonic . . 0.093 @ . . . 0.47 0.53 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.230 0.009 . . 37 . 0.653 . . 0.521 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.037 . 0.005 . LowAF . rs201505263 . . . . . . . . . . . . II.95 0.001425 ENST00000335211 II.38 -1.12 . . . . . Name\x3desv25305 . . 0.009 . . . 0.0003 2.196e-05 0 0 0 0 2.627e-05 0 0 0.0071 0.0051 0.0033 0.0070 0.0058 0.0063 0.0037 0.0088 . . 0.203 . -0.621 -0.621000 . . . . . 1.0E-146 0.000 0.063 . 0.016 0.000 . 0.002 . 0.002 -0.621 -1.964 . . . rs201505263 rs201505263 1 1538 10 1/0 0,199,255 +rs189258058 1 201178876 G A - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178876 201178876 Chr1(GRCh37):g.201178876G>A 4855 4855 NM_001164586.1:c.4855G>A p.Gly1619Ser p.Gly1619Ser 12 617309 3666 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 rs189258058 no no 0 0.000000 0 0.000025 0.000000 0.000000 0.000000 0.000000 0.000089 0.000030 0.000000 0.000000 0.000089 4 0 0 0 0 2 2 0 0 158768 13614 23968 8422 10920 22434 66964 8018 4428 0.000013 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.205 G Gly GGT 0.162 S Ser AGT 0.149 1619 20 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 180 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.G4855A:p.G1619S IGFN1:uc001gwc.3:exon12:c.G4855A:p.G1619S IGFN1:NM_001164586:exon12:c.G4855A:p.G1619S . . 0.1125 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.211 . @ . . . . . 1 0.293 . . 240.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G1619S|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.1238 -1.250 -1.124 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.981 . . exonic exonic exonic . . 0.190 @ . . . 0.43 0.41 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.793 0.114 . . 37 . 0.900 . . 0.832 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.212 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.284 . . . . . 0.123 . 0.009 . LowAF . rs189258058 . . . . . . . . . . . . IV.47 . ENST00000335211 I.97 1.II . . . . . Name\x3desv25305 . . 0.077 . . . 0 1.488e-05 0 0 0 0 0 0 8.915e-05 0 8.201e-05 0 0 0 0 0.0002 0 . . 0.133 . 0.174 0.174000 . . . . . 1.0E-180 0.000 0.063 . 0.016 0.000 . 0.116 . 0.120 0.174 -2.616 . . . rs189258058 rs189258058 1 1538 10 1/0 0,189,255 +rs61818162 1 201179275 G C - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201179275 201179275 Chr1(GRCh37):g.201179275G>C 5254 5254 NM_001164586.1:c.5254G>C p.Ala1752Pro p.Ala1752Pro 12 617309 -3475 5' 89.6127 X.54 0.996105 9.57811 89.6127 X.54 0.996105 9.57811 0 Cryptic Acceptor Strongly Activated 201179284 2.15872 0.017333 69.2936 2.84088 0.094262 72.0345 rs61818162 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000543 0.000539 0.000231 0.000000 0.001564 0.000298 0.000586 0.001612 0.000297 0.001612 67 4 5 0 13 6 29 9 1 123344 7420 21684 7330 8310 20122 49526 5582 3370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 4 5 0 13 6 29 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.043 0.528 A Ala GCT 0.263 P Pro CCT 0.283 1752 20 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 210 PASS . . . . . . 0.0002 . 0.001 . . ENSG00000163395:ENST00000335211:exon12:c.G5254C:p.A1752P IGFN1:uc001gwc.3:exon12:c.G5254C:p.A1752P IGFN1:NM_001164586:exon12:c.G5254C:p.A1752P . . 0.18487395 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.193 . @ . . . . . 1 0.260 . . 357.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A1752P|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -0.9460 -1.100 -0.946 c . . . . . 2.793e-04 . . . 0.0014 0.0002 0 0.0058 0 0 0 0.0001 0 9.762e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.885 . . exonic exonic exonic . . 0.170 0.0002 . . . 0.45 0.31 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.750 0.087 . . 37 . 0.711 . . 0.576 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.203 . . . . . 0.110 . 0.035 . HET . rs61818162 . . . . . . . . . . . . IV.76 . ENST00000335211 I.69 0.671 . . . . . . . . 0.028 . . . 0.0004 0.0004 0.0001 0 0.0016 0 0.0006 0 0.0003 0.0011 0.0024 0.0083 0 0 0.0103 0.0006 0.0055 . . 0.133 . -0.220 -0.220000 . . . . . 1.0E-210 0.000 0.063 . 0.016 0.006 . 0.149 . 0.277 -0.220 0.150 . rs61818162 rs61818162 rs61818162 rs61818162 1 1538 10 1/0 0,179,255 +rs55883779 1 201180085 G A - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201180085 201180085 Chr1(GRCh37):g.201180085G>A 6064 6064 NM_001164586.1:c.6064G>A p.Gly2022Ser p.Gly2022Ser 12 617309 -2665 5' 89.6127 X.54 0.996105 9.57811 89.6127 X.54 0.996105 9.57811 0 rs55883779 no no 0 G 0.000000 0 0.000040 0.000071 0.000047 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000071 6 1 1 0 0 0 4 0 0 149012 14144 21454 7346 10692 20306 63876 7150 4044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.763 G Gly GGT 0.162 S Ser AGT 0.149 2022 20 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 175 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.G6064A:p.G2022S IGFN1:uc001gwc.3:exon12:c.G6064A:p.G2022S IGFN1:NM_001164586:exon12:c.G6064A:p.G2022S . . 0.10215054 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.221 . @ . . . . . 1 0.065 . . 186.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G2022S|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.1199 -1.289 -1.120 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.950 . . exonic exonic exonic . . 0.043 @ . . . 0.36 0.35 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.882 0.230 . . 37 . 0.822 . . 0.724 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.234 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.226 . . . . . 0.208 . 0.035 . LowAF . rs55883779 . . . . . . . . . . . . VI.72 . ENST00000335211 II.53 -3.6 . . . . . . . . 0.026 . . . 0 2.423e-05 4.803e-05 0 0 0 3.889e-05 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . 0.133 . -0.264 -0.264000 . . . . . 1.0E-175 0.002 0.151 . 0.016 0.000 . 0.221 . 0.107 -0.264 -0.402 . rs55883779 rs55883779 rs55883779 rs202174330 1 1538 10 1/0 0,199,255 +rs138032231 1 204126444 G A - REN 9958 Renin NM_000537.3 -1 1465 1221 NP_000528.1 P00797 substitution intron GRCh37 204126444 204126444 Chr1(GRCh37):g.204126444G>A 698+45 698+45 NM_000537.3:c.698+45C>T p.? p.? 6 6 179820 45 5' 73.8844 6.92815 0.951988 2.35931 73.8844 6.92815 0.951988 2.06082 0 rs138032231 yes no Frequency/1000G 2 G 0.000000 0 0.003395 0.000000 0.006100 0.000000 0.008900 0.002900 0.007023 0.000874 0.001947 0.000000 0.000053 0.008089 0.008428 0.019772 0.004794 0.019772 1947 21 67 0 1 249 1068 510 31 277226 24028 34420 10152 18870 30782 126714 25794 6466 0.000065 0.000000 0.000000 0.000000 0.000000 0.000325 0.000032 0.000078 0.000309 9 0 0 0 0 5 2 1 1 1929 21 67 0 1 239 1064 508 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8523 4398 12921 77 8 85 0.00895349 0.00181571 0.00653545 0.00895349 0.00181571 0.00653545 242 transition C T C>T 0.000 1.739 255 PASS . 0.0037 0.0028 . 0.01 . 0.0034 0.0029 . 0.0089 0.0061 . . . . . 0.5125 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . INTRON(MODIFIER||||REN|mRNA|CODING|NM_000537|) 0.0018 0.0065 0.009 0.0018 0.0065 0.009 . 0.1569 . . . . . . . . 6.803e-03 . . . 0.0012 0.0061 0.0016 0 0.0203 0.0071 0.0042 0.0085 0.0012 0.0066 0.0016 0 0.0197 0.0074 0.0072 0.0085 . . . . . . intronic intronic intronic . . . 0.0034 . . . 0.54 0.52 182 ENSG00000143839 REN REN . . . . . . 492 0.00757203 64976 475 0.00791851 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138032231 . . . . . . . . . . . . . . . . . . . . . . . 0.006535 . . . . II.61 0.0009 0.0068 0.0018 0 5.798e-05 0.0203 0.0079 0.0042 0.0081 0.0008 0.0086 0.0084 0 0 0.0166 0.0124 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61764270 rs61764270 rs138032231 rs138032231 1 1538 10 1/0 0,255,255 +. 1 204506196 A G - MDM4 6974 MDM4, p53 regulator NM_002393.4 1 10077 1473 NP_002384.2 O15151 substitution intron GRCh37 204506196 204506196 Chr1(GRCh37):g.204506196A>G 344-362 344-362 NM_002393.4:c.344-362A>G p.? p.? 6 5 602704 -362 3' 84.2148 VII.31 0.853862 6.36863 84.2148 VII.31 0.853862 6.36863 0 rs946914304 no no 0 A 0.000000 0 0.000129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000266 0.000000 0.000000 0.000266 4 0 0 0 0 0 4 0 0 30972 8730 838 302 1622 0 15010 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition A G A>G 0.024 0.770 255 PASS . . . . . . . . . . . . . . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . 0.4662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198625 MDM4 MDM4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs140933861 1 207647249 A G - CR2 2336 Complement component (3d/Epstein Barr virus) receptor 2 NM_001006658.2 1 4170 3279 NP_001006659.1 substitution intron GRCh37 207647249 207647249 Chr1(GRCh37):g.207647249A>G 2240+19 2240+19 NM_001006658.2:c.2240+19A>G p.? p.? 12 12 120650 19 5' 82.5488 8.73118 0.991452 5.31295 82.5488 8.73118 0.991452 5.28103 0 Cryptic Donor Strongly Activated 207647244 0.00044 56.2265 1.09101 0.017934 68.3781 rs140933861 yes no Frequency/1000G 2 A 0.000000 0 0.000998 0.000000 0.000000 0.001000 0.004000 0.000000 0.003738 0.000167 0.000029 0.004435 0.000000 0.000000 0.005120 0.012078 0.004503 0.012078 1033 4 1 45 0 0 647 307 29 276328 24016 34302 10146 18854 30778 126374 25418 6440 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000079 0.000311 7 0 0 0 0 0 5 1 1 1019 4 1 45 0 0 637 305 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4405 12980 25 1 26 0.00290698 0.000226963 0.00199908 0.00290698 0.000226963 0.00199908 69 transition A G A>G 0.000 0.690 255 PASS . 0.0018 . 0.0017 0.004 . 0.001 . 0.001 0.004 . . . . . . 0.4848485 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . 0.0002 0.002 0.0029 0.0002 0.002 0.0029 . 0.3580 . . . . . . . . 3.489e-03 . . . 0.0003 0.0023 0 0 0.0095 0.0039 0.0014 0 0.0001 0.0029 0 0 0.0115 0.0041 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.26 0.3 182 ENSG00000117322 CR2 CR2 . . . . . . 211 0.00324735 64976 206 0.00343413 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140933861 . . . . . . . . . . . . . . . . . . . . . . . 0.001999 . . . . II.91 0.0003 0.0034 2.988e-05 0.0044 0 0.0121 0.0045 0.0033 0 0 0.0064 0 0.0066 0 0.0117 0.0095 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs140933861 rs140933861 1 1538 10 1/0 0,255,255 +rs34978978 1 212957827 T C - NSL1 24548 NSL1, MIS12 kinetochore complex component NM_015471.3 -1 13135 846 NP_056286.3 Q96IY1 substitution missense exon GRCh37 212957827 212957827 Chr1(GRCh37):g.212957827T>C 322 322 NM_015471.3:c.322A>G p.Ile108Val p.Ile108Val 3 609174 9 3' 83.6724 8.84215 0.912205 7.78993 83.6724 8.84215 0.89026 7.91857 -0.00801903 Kinetochore Mis14 rs34978978 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.007000 0.002900 0.004660 0.000341 0.000858 0.000107 0.000000 0.000000 0.005841 0.017450 0.004036 0.017450 1201 8 25 1 0 0 710 433 24 257750 23480 29140 9376 17642 25802 121550 24814 5946 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000161 0.000000 4 0 0 0 0 0 2 2 0 1193 8 25 1 0 0 706 429 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4402 12945 45 0 45 0.00523987 0 0.0034642 0.00523987 0 0.0034642 86 transition A G A>G 1.000 3.111 I Ile ATC 0.481 V Val GTC 0.240 108 12 10 Frog 3 3 4 0 0 5.II 5.IX 111 84 29 C0 138.34 0.00 Tolerated 0.4 II.87 good 3.104E-1 0.001314 255 PASS . 0.0032 0.0028 . 0.01 . 0.0018 0.0029 . 0.007 . . . . . . 0.42857143 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.549 . @ . . . . . 1 0.942 . . 21.0 . . . . 0.0035 0.0052 . 0.0035 0.0052 . 0.6673 0.648 0.667 c . . . . . 4.208e-03 . . . 9.958e-05 0.0030 0.0007 0 0.0170 0.0047 0.0029 0 0 0.0038 0.0006 0 0.0160 0.0054 0.0030 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.830 . . exonic exonic exonic . . 0.832 0.0018 . . . 0.45 0.28 182 ENSG00000117697 NSL1 NSL1 . . . 1.000 0.489 . 276 0.00424772 64976 267 0.00445104 59986 Uncertain_significance . 0 . 0.457 . . . . . . . . . 37 . 0.857 . . 0.872 . . . 0.752 0.404 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.689 . . 0.807 . . . . . . 0 0.912 . . . . . 0.616 . 0.421 . HET 0 rs34978978 . . . . . . . 0.003205128205128205 0.0 0.0027624309392265192 0.0 0.0079155672823219 13.6418 0.0 . V.55 V.55 . 0.140000 . . . Name\x3ddgv179e1 0.003464 . 0.504 . . V.55 0.0002 0.0044 0.0008 0.0001 0 0.0174 0.0055 0.0034 0 0.0006 0.0064 0.0012 0 0 0.0175 0.0083 0.0071 . . 0.924 . 2.099 2.099000 . . 0.140000 . . 1.0E-255 1.000 0.715 . 0.562 0.916 . 0.591 . 0.807 2.099 0.991 0.01 rs34978978 rs34978978 rs34978978 rs34978978 1 1538 10 1/0 0,255,255 +rs141413721 1 213146141 C T - VASH2 25723 Vasohibin 2 NM_001301056.1 1 4494 1068 NP_001287985.1 Q86V25 substitution synonymous exon GRCh37 213146141 213146141 Chr1(GRCh37):g.213146141C>T 717 717 NM_001301056.1:c.717C>T p.Tyr239= p.Tyr239Tyr 6 610471 -163 5' 85.2503 8.22968 0.892828 9.27975 85.2503 8.22968 0.892828 9.27975 0 Cryptic Acceptor Strongly Activated 213146152 0.000297 69.1966 1.27416 0.000705 73.2985 rs141413721 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002035 0.000291 0.000174 0.000394 0.000000 0.000000 0.002243 0.009693 0.002011 0.009693 564 7 6 4 0 0 284 250 13 277126 24034 34418 10146 18870 30782 126618 25792 6466 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000078 0.000000 2 0 0 0 0 0 1 1 0 560 7 6 4 0 0 282 248 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4405 13002 3 1 4 0.000348837 0.000226963 0.00030755 0.000348837 0.000226963 0.00030755 116 transition C T C>T 1.000 2.546 Y Tyr TAC 0.562 Y Tyr TAT 0.438 239 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54347825 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 92.0 . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . I.09 . . . . . . . . 1.760e-03 . . . 0.0005 0.0013 8.646e-05 0 0.0113 0.0017 0.0028 0 0.0004 0.0015 8.916e-05 0 0.0097 0.0016 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.58 0.52 182 ENSG00000143494 VASH2 VASH2 . . . . . . 90 0.00138513 64976 89 0.00148368 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141413721 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv29349 0.000308 . . . . III.33 0.0003 0.0018 0.0002 0.0002 0 0.0097 0.0019 0.0013 0 0.0002 0.0037 0 0.0066 0 0.0095 0.0047 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs141413721 rs141413721 1 1538 10 1/0 0,255,255 +rs558626579 1 214821948 G A - CENPF 1857 Centromere protein F, 350/400kDa (mitosin) NM_016343.3 1 10296 9345 NP_057427.3 substitution intron GRCh37 214821948 214821948 Chr1(GRCh37):g.214821948G>A 7831-70 7831-70 NM_016343.3:c.7831-70G>A p.? p.? 14 13 600236 -70 3' 0 0 0.000318 0 0 0 0.000318 0 0 rs558626579 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.011200 0.000000 0.000000 0.000000 0.000097 0.000000 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.001020 0.000133 3 0 0 0 0 0 2 0 1 30970 8730 838 302 1620 0 15006 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 0.044 255 PASS . . . . . . 0.0022 . . . 0.011 . . . . . 0.51111114 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||CENPF|mRNA|CODING|NM_016343|) . . . . . . . 0.2229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0022 . . . . . . ENSG00000117724 CENPF CENPF . . . . . . 35 0.00053866 64976 24 0.000400093 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558626579 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv873165 . . . . . . . . . . . . . . . 0 9.687e-05 0 0 0 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr1:219784636 C/T) 1 219784636 C T No Alamut gene - other known genes: ZC3H11B ZC3H11B +rs189835847 1 223740100 C T - CAPN8 1485 Calpain 8 ENST00000419193.4 -1 1399 1311 ENSP00000401665 substitution downstream GRCh37 223740100 223740100 Chr1(GRCh37):g.223740100C>T *63572 *63572 ENST00000419193.4:c.*63572G>A p.? p.? 10 63748 3' 74.3043 3.88924 0.008316 0 74.3043 3.88924 0.008316 0 0 rs189835847 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000800 0.001000 0.000000 0.003000 0.004300 0.007220 0.001945 0.005450 0.037190 0.000000 0.000000 0.011748 0.001233 0.008516 0.037190 190 14 4 9 0 0 152 4 7 26314 7198 734 242 1136 0 12938 3244 822 0.178947 0.142857 0.250000 0.444444 0.000000 0.000000 0.157895 0.250000 0.285714 34 2 1 4 0 0 24 1 2 122 10 2 1 0 0 104 2 3 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition G A G>A 0.000 -2.619 255 PASS 0.01 0.01 0.01 . 0.01 0.0008 0.0016 0.0043 . 0.003 0.001 . . . . . 0.46706587 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . INTRON(MODIFIER||||CAPN8|mRNA|CODING|NM_001143962|) . . . . . . . -0.6816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.41 0.19 182 ENSG00000203697 CAPN8 CAPN8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189835847 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832681 . . . . . . . . . . . . . . . 0.0019 0.0072 0.0054 0.0372 0 0.0012 0.0117 0.0085 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189835847 rs189835847 1 1538 10 1/0 0,235,255 +. 1 223742302 C T - CAPN8 1485 Calpain 8 ENST00000419193.4 -1 1399 1311 ENSP00000401665 substitution downstream GRCh37 223742302 223742302 Chr1(GRCh37):g.223742302C>T *61370 *61370 ENST00000419193.4:c.*61370G>A p.? p.? 10 61546 3' 74.3043 3.88924 0.008316 0 74.3043 3.88924 0.008316 0 0 transition G A G>A 0.992 0.528 255 PASS . . . . . . . . . . . . . . . . 0.34285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||CAPN8|mRNA|CODING|NM_001143962|) . . . . . . . 0.6689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000235428 CAPN8 CAPN8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199748938 1 225600289 T C - LBR 6518 Lamin B receptor NM_002296.3 -1 3823 1848 NP_002287.2 Q14739 substitution synonymous exon GRCh37 225600289 225600289 Chr1(GRCh37):g.225600289T>C 951 951 NM_002296.3:c.951A>G p.Val317= p.Val317Val 8 600024 59 3' 90.0326 X.32 0.992892 14.5563 90.0326 X.32 0.992892 14.8507 0 Ergosterol biosynthesis ERG4/ERG24 rs199748938 yes no Frequency 1 T uncertain_significance 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 0.000111 14 0 0 0 0 0 14 0 0 277002 23980 34412 10144 18864 30780 126592 25770 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000315270.1 germline clinical testing VUS 1 Greenberg dysplasia transition A G A>G 0.000 -4.556 V Val GTA 0.114 V Val GTG 0.468 317 255 PASS . . . . . . . . . . . . . . . . 0.52 . . germline 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000315270.1 Greenberg_dysplasia MedGen:OMIM:Orphanet:SNOMED_CT C1300226:215140:ORPHA1426:389261002 2 . . . 25.0 . . . . . . . . . . -0.2852 . . . . . . . . 5.525e-05 . . . 0 4.43e-05 0 0 0 7.161e-05 0.0014 0 0 3.772e-05 0 0 0 5.524e-05 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.28 182 ENSG00000143815 LBR LBR . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199748938 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832714 . . . . . . 0 5.281e-05 0 0 0 0 0.0001 0 0 0 3.241e-05 0 0 0 0 6.688e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199748938 rs199748938 1 1538 10 1/0 0,255,255 +rs56308606 1 226827300 G A - ITPKB 6179 Inositol 1,4,5-trisphosphate 3-kinase B NM_002221.3 -1 6162 2841 NP_002212.3 P27987 substitution synonymous exon GRCh37 226827300 226827300 Chr1(GRCh37):g.226827300G>A 2511 2511 NM_002221.3:c.2511C>T p.Thr837= p.Thr837Thr 6 147522 -43 5' 87.1266 10.0978 0.99321 9.55158 87.1266 10.0978 0.99321 9.34514 0 Cryptic Donor Strongly Activated 226827306 2.64303 0.025948 71.6429 3.41173 0.204685 77.4215 Inositol polyphosphate kinase rs56308606 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003265 0.000208 0.000755 0.001675 0.000000 0.000065 0.004523 0.009809 0.004485 0.009809 905 5 26 17 0 2 573 253 29 277204 24028 34420 10152 18868 30782 126696 25792 6466 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 899 5 26 17 0 2 569 251 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4406 12979 27 0 27 0.00313953 0 0.00207596 0.00313953 0 0.00207596 178 transition C T C>T 0.031 -2.054 T Thr ACC 0.361 T Thr ACT 0.243 837 255 PASS . 0.0023 . . 0.01 . 0.001 . . 0.005 . . ITPKB:uc010pvo.2:exon6:c.C2511T:p.T837T ITPKB:NM_002221:exon6:c.C2511T:p.T837T . . 0.5 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T837|ITPKB|mRNA|CODING|NM_002221|NM_002221.ex.6) . 0.0021 0.0031 . 0.0021 0.0031 . 0.2646 . . . . . . . . 3.118e-03 . . . 9.632e-05 0.0023 0.0005 0 0.0087 0.0040 0.0014 0 0.0001 0.0027 0.0005 0 0.0101 0.0039 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.24 0.3 182 ENSG00000143772 ITPKB ITPKB . . . . . . 208 0.00320118 64976 203 0.00338412 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56308606 . . . . . . . . . . . . . . . . . . . . . . . 0.002076 . . . . . 0.0001 0.0030 0.0008 0.0015 0 0.0097 0.0041 0.0038 6.497e-05 0.0003 0.0051 0 0.0066 0 0.0103 0.0073 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs56308606 rs56308606 rs56308606 rs56308606 1 1538 10 1/0 0,255,255 +rs114893547 1 227085394 A G - PSEN2 9509 Presenilin 2 (Alzheimer disease 4) NM_000447.2 1 2298 1347 NP_000438.2 P49810 substitution downstream GRCh37 227085394 227085394 Chr1(GRCh37):g.227085394A>G *2114 *2114 NM_000447.2:c.*2114A>G p.? p.? 13 600759 2270 3' 88.1416 10.268 0.867645 13.5527 88.1416 10.268 0.867645 13.5527 0 New Acceptor Site 227085395 2.92541 0.040791 69.6795 rs114893547 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.003000 0.007200 0.006687 0.000229 0.009569 0.013245 0.000617 0.000000 0.009931 0.010303 0.007143 0.013245 207 2 8 4 1 0 149 36 7 30954 8716 836 302 1622 0 15004 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 207 2 8 4 1 0 149 36 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -2.942 255 PASS . 0.01 0.02 . 0.01 . 0.0016 0.0072 . 0.003 . . . . . . 0.5479452 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.5770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 ncRNA_exonic intergenic . . . 0.0016 . . . 0.41 0.33 182 ENSG00000163050 CABC1 . ENST00000366779:c.-63693A>G . dist\x3d1590\x3bdist\x3d42544 . . . 353 0.00543278 64976 344 0.00573467 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114893547 . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0067 0.0096 0.0132 0.0006 0.0103 0.0099 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs114893547 rs114893547 1 1538 10 1/0 0,255,255 +. 1 227279717 G GA - CDC42BPA 1737 CDC42 binding protein kinase alpha (DMPK-like) NM_003607.3 -1 10506 5160 NP_003598.2 duplication intron GRCh37 227279717 227279718 Chr1(GRCh37):g.227279718dup 2250-26 2250-26 NM_003607.3:c.2250-26dup p.? p.? 16 15 603412 -25 3' 67.3251 3.92279 0.016665 0 67.3251 3.92279 0.016665 0 0 rs572019505 yes no Frequency/1000G 2 0.000599 A 3 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.003270 0.000223 0.000547 0.001997 0.000000 0.000000 0.004103 0.010131 0.003232 0.010131 736 5 11 14 0 0 454 236 16 225044 22428 20124 7010 15382 21200 110656 23294 4950 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000172 0.000000 4 0 0 0 0 0 2 2 0 728 5 11 14 0 0 450 232 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8234 4264 12498 16 0 16 0.00193939 0 0.00127857 0.00193939 0 0.00127857 82 T 255 Pass . . . . . . 0.0006 . . 0.003 . . . . . . 0.46875 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . 0.0014 0.0021 . 0.0013 0.0019 . . . . . . . . . . 2.741e-03 . . . 0.0003 0.0019 0.0005 0 0.0088 0.0031 0.0015 0 0.0003 0.0026 0.0005 0 0.0100 0.0036 0.0016 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000143776 CDC42BPA CDC42BPA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs572019505 . . . . . . . . . . . . . . . . . . . . . . . 0.001358 . . . . . 0.0003 0.0029 0.0006 0.0019 0 0.0097 0.0035 0.0020 0 0.0001 0.0055 0 0.0034 0 0.0126 0.0078 0.0085 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0021 . . . . 1 1538 10 1.I 0,12,33 +rs149847629 1 228295843 G A - MRPL55 16686 Mitochondrial ribosomal protein L55 NM_181462.2 -1 865 495 NP_852127.2 substitution intron GRCh37 228295843 228295843 Chr1(GRCh37):g.228295843G>A 27-58 27-58 NM_181462.2:c.27-58C>T p.? p.? 4 3 611859 -58 3' 73.8642 4.14324 0.221627 0 73.8642 4.14324 0.221627 0 0 rs149847629 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.003100 0.000000 0.007000 0.002900 0.003200 0.001145 0.000000 0.003311 0.000000 0.000000 0.004672 0.004582 0.002045 0.004672 99 10 0 1 0 0 70 16 2 30940 8730 836 302 1620 0 14982 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 99 10 0 1 0 0 70 16 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.279 255 PASS . 0.0032 0.01 . 0.01 0.0008 0.0026 0.0029 . 0.007 0.0031 . . . . . 0.49137932 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . -0.1917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.31 0.18 182 ENSG00000162910 MRPL55 MRPL55 . . . . . . 223 0.00343204 64976 210 0.00350082 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149847629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0032 0 0.0033 0 0.0046 0.0047 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149847629 rs149847629 1 1538 10 1/0 0,253,255 +rs774804205 1 228613022 G T - HIST3H3 4778 Histone cluster 3, H3 NM_003493.2 -1 481 411 NP_003484.1 Q16695 substitution missense exon GRCh37 228613022 228613022 Chr1(GRCh37):g.228613022G>T 5 5 NM_003493.2:c.5C>A p.Ala2Asp p.Ala2Asp 1 602820 transversion C A C>A 0.992 4.887 A Ala GCC 0.403 D Asp GAC 0.539 2 10 10 Baker's yeast -2 -2 -3 0 I.38 8.I 13 31 54 126 C65 0.00 125.75 Deleterious 0 IV.32 bad 2.547E-6 2.111E-5 255 PASS . . . . . . . . . . . ENSG00000168148:ENST00000366696:exon1:c.C5A:p.A2D HIST3H3:uc001hsx.1:exon1:c.C5A:p.A2D HIST3H3:NM_003493:exon1:c.C5A:p.A2D . . 0.5081967 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.400 . @ . . . . . 1 0.132 . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A2D|HIST3H3|mRNA|CODING|NM_003493|NM_003493.ex.1) . . . . . . . 0.3862 0.257 0.386 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.524 . . exonic exonic exonic . . 0.400 @ . . . . . . ENSG00000168148 HIST3H3 HIST3H3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.392 . . . . T 0.471 0.024 . . 37 . 0.667 . . 0.795 . . . 0.994 0.460 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.751 . . 0 0 0 0 0 0 . 0.365 . . 0.391 . . . . . . 0 . . . . . . 0.610 . 0.861 . HET 0 . . . . . . . . . . . . . 13.539 . ENST00000366696 III.58 III.58 . 0.000000 Q16695 . . . . . 0.626 . . III.58 . . . . . . . . . . . . . . . . . . . 0.056 . 2.286 2.286000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.108 0.093 . 0.721 . 0.652 2.286 0.913 . . . . . 1 1538 10 1/0 0,255,255 +. 1 229588331 C T - NUP133 18016 Nucleoporin 133kDa NM_018230.2 -1 4170 3471 NP_060700.2 Q8WUM0 substitution missense exon GRCh37 229588331 229588331 Chr1(GRCh37):g.229588331C>T 3040 3040 NM_018230.2:c.3040G>A p.Ala1014Thr p.Ala1014Thr 22 607613 -60 5' 65.1959 4.35966 0.47075 0.466111 65.1959 4.35966 0.47075 0.813441 0 Nucleoporin, Nup133/Nup155-like, C-terminal 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245808 15300 33544 9842 17240 30780 111332 22296 5474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition G A G>A 0.142 1.497 A Ala GCG 0.107 T Thr ACG 0.116 1014 12 5 Cow 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 150.56 0.00 Tolerated 0.52 II.96 good 4.026E-1 0.5555 255 PASS . . . . . . . . . . . . NUP133:uc001htn.3:exon22:c.G3040A:p.A1014T NUP133:NM_018230:exon22:c.G3040A:p.A1014T . . 0.6111111 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.350 . @ . . . . . 1 0.127 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A1014T|NUP133|mRNA|CODING|NM_018230|NM_018230.ex.22) . . . . . . . -0.7858 -0.639 -0.786 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.219 . . exonic exonic exonic . . 0.192 @ . . . . . . ENSG00000069248 NUP133 NUP133 . . . 0.014 0.125 . . . . . . . Uncertain_significance . 0 . 0.369 . . . . T 0.182 0.007 . . 37 . 0.064 . . 0.373 . . . 0.127 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.051 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.059 . . . . . 0.145 . 0.017 . HET 0.48 . . . . . . . . . . . . . V.88 . . V.41 1.V . 0.560000 Q8WUM0 . . . . . 0.383 . . . 0 4.068e-06 0 0 0 0 8.982e-06 0 0 . . . . . . . . . . 0.924 . -0.077 -0.077000 . . 0.560000 . . 1.0E-255 0.991 0.370 . 0.262 0.956 . 0.479 . 0.185 -0.077 0.008 . . . . . 1 1538 10 1/0 0,255,255 +rs148856535 1 229602488 T C - NUP133 18016 Nucleoporin 133kDa NM_018230.2 -1 4170 3471 NP_060700.2 Q8WUM0 substitution missense exon GRCh37 229602488 229602488 Chr1(GRCh37):g.229602488T>C 2092 2092 NM_018230.2:c.2092A>G p.Thr698Ala p.Thr698Ala 16 607613 16 3' 87.9746 IX.98 0.966523 X.21 87.9746 IX.98 0.962083 11.0324 -0.00153126 Nucleoporin, Nup133/Nup155-like, C-terminal rs148856535 yes no Frequency 1 T 0.000000 0 0.000383 0.000083 0.000058 0.000000 0.000000 0.000000 0.000790 0.000039 0.000155 0.000790 106 2 2 0 0 0 100 1 1 276950 24032 34388 10146 18856 30772 126520 25772 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 2 2 0 0 0 100 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 105 transition A G A>G 0.992 1.013 T Thr ACC 0.361 A Ala GCC 0.403 698 12 7 Cow 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 163.23 1.I Tolerated 0.36 II.96 good 5.913E-2 0.4123 255 PASS . . . . . . . . . . . . NUP133:uc001htn.3:exon16:c.A2092G:p.T698A NUP133:NM_018230:exon16:c.A2092G:p.T698A . . 0.5217391 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.257 . @ . . . . . 1 0.180 . . 69.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T698A|NUP133|mRNA|CODING|NM_018230|NM_018230.ex.16) . 0.0002 0.0002 . 0.0002 0.0002 . -0.3981 -0.230 -0.398 c . . . . . 3.631e-04 . . . 0 0.0003 8.682e-05 0 0 0.0006 0 0 0 0.0003 8.953e-05 0 0 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.208 . . exonic exonic exonic . . 0.570 @ . . . 0.59 0.22 182 ENSG00000069248 NUP133 NUP133 . . . 0.193 0.180 . 23 0.000353977 64976 23 0.000383423 59986 Uncertain_significance . 0 . 0.559 . . . . T 0.164 0.006 . . 37 . 0.131 . . 0.232 . . . 0.351 0.306 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.144 . . 0.104 . . . . . . 0 0.065 . . . . . 0.139 . 0.084 . HET 0.22 rs148856535 . . . . . . . . . . . . 5.087 0.0 . V.77 IV.63 . 0.670000 Q8WUM0 . . . 0.000154 . 0.613 . . IV.63 6.535e-05 0.0004 5.961e-05 0 0 4.488e-05 0.0008 0.0002 0 0.0001 0.0005 0 0 0 0 0.0009 0 . . 0.924 . 1.090 1.090000 . . 0.670000 . . 1.0E-255 1.000 0.715 . 0.587 0.875 . 0.448 . 0.635 1.090 0.991 0.0002 . . rs148856535 rs148856535 1 1538 10 1/0 0,255,255 +rs566348210 1 232574719 T C - SIPA1L2 23800 Signal-induced proliferation-associated 1 like 2 NM_020808.4 -1 6600 5169 NP_065859.3 Q9P2F8 substitution intron GRCh37 232574719 232574719 Chr1(GRCh37):g.232574719T>C 4031+135 4031+135 NM_020808.4:c.4031+135A>G p.? p.? 13 13 611609 135 5' 94.2214 9.88355 0.999178 XII.81 94.2214 9.88355 0.999178 XII.81 0 rs566348210 yes no Frequency/1000G 2 T 0.000000 0 0.000810 0.000115 0.000000 0.000000 0.000000 0.000000 0.001205 0.001443 0.001029 0.001443 25 1 0 0 0 0 18 5 1 30848 8716 832 302 1622 0 14938 3466 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 1 0 0 0 0 18 5 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.44186047 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||SIPA1L2|mRNA|CODING|NM_020808|) . . . . . . . -0.3050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000116991 SIPA1L2 SIPA1L2 . . . . . . 11 0.000169293 64976 11 0.000183376 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv546n71 . . . . . . . . . . . . . . . 0.0001 0.0008 0 0 0 0.0014 0.0012 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781144654 1 234509302 G A - COA6 18025 Cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) NM_001206641.2 1 729 468 NP_001193570.2 substitution synonymous exon GRCh37 234509302 234509302 Chr1(GRCh37):g.234509302G>A 90 90 NM_001206641.2:c.90G>A p.Glu30= p.Glu30Glu 1 614772 -123 5' 71.2036 3.97343 0.129952 3.62553 71.2036 3.97343 0.129952 3.62553 0 rs781144654 yes no Frequency 1 G 0.000000 0 0.000082 0.000000 0.000000 0.000000 0.000000 0.000000 0.000175 0.000039 0.000000 0.000175 22 0 0 0 0 0 21 1 0 268192 22864 34264 9924 18746 30690 119782 25628 6294 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 0 0 0 21 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.044 E Glu GAG 0.583 E Glu GAA 0.417 30 255 PASS . . . . . . . . . . . ENSG00000168275:ENST00000366615:exon1:c.G90A:p.E30E . COA6:NM_001206641:exon1:c.G90A:p.E30E . . 0.4 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 170.0 . . . . . . . . . . 0.8630 . . . . . . . . 1.293e-04 . . . 0 0.0001 0 0 0.0003 0.0003 0 0 0 6.216e-05 0 0 0.0002 0.0001 0 0 synonymous_SNV . synonymous_SNV . . . exonic UTR5 exonic . . . @ . . . . . . ENSG00000168275 COA6 COA6 . uc001hwb.3:c.-690G>A . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781144654 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv159229 . . . . . . 0 8.431e-05 0 0 0 4.518e-05 0.0002 0 0 0 6.457e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,252 +rs144709709 1 236201522 C A - NID1 7821 Nidogen 1 NM_002508.2 -1 5883 3744 NP_002499.2 P14543 substitution synonymous exon GRCh37 236201522 236201522 Chr1(GRCh37):g.236201522C>A 1167 1167 NM_002508.2:c.1167G>T p.Thr389= p.Thr389Thr 5 131390 32 3' 83.2018 3.80141 0.36797 4.52487 83.2018 3.80141 0.36797 3.83523 0 Cryptic Acceptor Strongly Activated 236201507 2.29756 0.002889 72.2635 2.63267 0.007606 72.2635 EGF-like calcium-binding Epidermal growth factor-like rs144709709 yes no Frequency/1000G 2 C 0.000000 0 0.000134 0.000000 0.000029 0.000000 0.000000 0.000000 0.000167 0.000504 0.000311 0.000504 37 0 1 0 0 0 21 13 2 276032 23942 34162 10104 18840 30672 126090 25790 6432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 0 1 0 0 0 21 13 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.150 -1.409 T Thr ACG 0.116 T Thr ACT 0.243 389 255 PASS . . . . . . . . . . . . . NID1:NM_002508:exon5:c.G1167T:p.T389T . . 0.54022986 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acT|T389|NID1|mRNA|CODING|NM_002508|NM_002508.ex.5) . . . . . . . 0.9068 . . . . . . . . 1.815e-04 . . . 0 8.917e-05 0 0 0.0005 0.0001 0 0 0 0.0002 0 0 0.0005 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.39 0.29 182 ENSG00000116962 NID1 NID1 . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144709709 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832958 . . . . . . 0 0.0001 3.001e-05 0 0 0.0004 0.0002 0.0002 0 0 0.0001 0 0 0 0.0009 0 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 237880551 T G - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution stop gain exon GRCh37 237880551 237880551 Chr1(GRCh37):g.237880551T>G 10377 10377 NM_001035.2:c.10377T>G p.Tyr3459* p.Tyr3459* 72 180902 54 3' 87.056 X.04 0.990237 8.57596 87.056 X.04 0.990237 9.02905 0 transversion T G T>G 1.000 0.690 Y Tyr TAT 0.438 * * TAG 0.234 3459 175 PASS . . . . . . . . . . . . . RYR2:NM_001035:exon72:c.T10377G:p.Y3459X . . 0.10344828 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.992 . @ . . . . . 0 0.444 . . 58.0 . . STOP_GAINED(HIGH|NONSENSE|taT/taG|Y3459*|RYR2|mRNA|CODING|NM_001035|NM_001035.ex.72) . . . . . . . 0.1610 -0.097 0.161 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.088 @ . . . . . . ENSG00000198626 RYR2 RYR2 . . . 0.000 0.057 . . . . . . . Likely_pathogenic . 0 . 0.559 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.507 . . . LowAF 0.04 . . . . . . . . . . . . . XI.16 . . V.34 -1.26 . 0.980000 . . . . . . 0.247 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.155 -0.155000 . . 0.980000 . . 1.0E-175 0.024 0.198 . 0.604 1.000 . 0.051 . 0.194 -0.155 0.991 . . . . . 1 1538 10 1.I 0,0,0 +rs78765904 1 237941906 C A - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237941906 237941906 Chr1(GRCh37):g.237941906C>A 11776-60 11776-60 NM_001035.2:c.11776-60C>A p.? p.? 88 87 180902 -60 3' 91.8703 9.18847 0.879715 4.29011 91.8703 9.18847 0.879715 4.50309 0 Cryptic Donor Strongly Activated 237941907 0.000168 58.5938 1.92889 0.007798 67.508 rs78765904 yes no Frequency/1000G 2 A 0.000000 0 0.009784 0.000000 0.025600 0.000000 0.012900 0.015900 0.007880 0.002750 0.015513 0.006623 0.000000 0.000000 0.012327 0.003727 0.007128 0.015513 244 24 13 2 0 0 185 13 7 30966 8726 838 302 1622 0 15008 3488 982 0.004098 0.000000 0.000000 0.000000 0.000000 0.000000 0.005405 0.000000 0.000000 1 0 0 0 0 0 1 0 0 242 24 13 2 0 0 183 13 7 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C A C>A 0.000 -0.844 255 PASS . 0.01 0.02 . 0.02 . 0.0098 0.016 . 0.013 0.026 . . . . . 0.45238096 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) . . . . . . . -0.0460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0098 . . . 0.2 0.21 182 ENSG00000198626 RYR2 RYR2 . . . . . . 1019 0.0156827 64976 970 0.0161704 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78765904 . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0079 0.0155 0.0066 0 0.0037 0.0123 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs78765904 rs78765904 1 1538 10 1/0 0,255,255 +rs141528541 1 237948286 A G - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237948286 237948286 Chr1(GRCh37):g.237948286A>G 13260+14 13260+14 NM_001035.2:c.13260+14A>G p.? p.? 90 90 180902 14 5' 87.6072 8.55395 0.954471 4.74066 87.6072 8.55395 0.954471 5.06193 0 rs141528541 yes no Frequency/1000G 2 A benign,likely_benign 0.000000 0 0.010783 0.000000 0.038900 0.000000 0.007000 0.013000 0.008639 0.001618 0.005947 0.006006 0.000000 0.021047 0.010142 0.002994 0.010952 0.021047 1620 28 152 52 0 496 785 52 55 187512 17310 25558 8658 12626 23566 77402 17370 5022 0.000160 0.000000 0.000000 0.000231 0.000000 0.000849 0.000078 0.000000 0.000398 15 0 0 1 0 10 3 0 1 1590 28 152 50 0 476 779 52 53 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8111 3737 11848 75 7 82 0.00916198 0.00186966 0.00687343 0.00916198 0.00186966 0.00687343 9 RCV000361643.1|RCV000266981.1|RCV000036677.2|RCV000030411.1 germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing Likely benign|Likely benign|Benign|Benign 1|1|1|0 Cardiomyopathy, ARVC|Catecholaminergic polymorphic ventricular tachycardia|not specified|Cardiomyopathy transition A G A>G 0.000 -0.198 255 PASS . 0.01 0.02 . 0.01 . 0.011 0.013 . 0.007 0.039 . . . . . 0.5344828 . . germline 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.153 . Benign//\%//\@Benign//\%//\@Likely//\@benign//\%//\@Likely//\@benign Benign|Benign|Likely_benign|Likely_benign RCV000030411.1|RCV000036677.2|RCV000266981.1|RCV000361643.1 . MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet|MedGen C0878544:ORPHA167848:85898001|CN169374|C1631597:ORPHA3286|CN239181 2 0.069 . . 58.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0019 0.0069 0.0092 0.0019 0.0069 0.0092 . 0.2688 -0.140 0.269 n . . . . . 6.705e-03 . . . 0.0013 0.0144 0.0141 0 0.0045 0.0134 0.0307 0.0209 0.0012 0.0151 0.0137 0 0.0068 0.0150 0.0309 0.0206 . . . . . . intronic intronic intronic . . 0.113 0.0108 . . . 0.45 0.19 182 ENSG00000198626 RYR2 RYR2 . . . 0.000 0.050 . 607 0.00934191 64976 555 0.00925216 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . 0.178 . . . HET . rs141528541 . 0.014 CLINSIG\x3dunknown|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|AllHighlyPenetrant\x3bCLNACC\x3dRCV000030411.1|RCV000036677.1 CLINSIG\x3dunknown|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000030411.1|RCV000036677.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT|.\x3bCLNDSDBID\x3dC0878544:85898001|. CLINSIG\x3dunknown|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000030411.1|RCV000036677.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0878544:85898001|CN169374 CLINSIG\x3dunknown|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000030411.1|RCV000036677.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0878544:85898001|CN169374 . . . . . . . . . . . . . . . . . 0.006873 . 0.066 . . . 0.0012 0.0093 0.0058 0.0057 0 0.0029 0.0107 0.0119 0.0210 0.0021 0.0055 0.0096 0.0132 0 0.0034 0.0080 0.0071 . . 0.004 . . . . . . . . 1.0E-255 0.000 0.063 . 0.212 0.271 . 0.135 . 0.866 . 1.003 0.02 . . rs141528541 . 1 1538 10 1/0 0,255,255 +. 1 237961297 A ATGGTTG - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 duplication intron GRCh37 237961303 237961304 Chr1(GRCh37):g.237961298_237961303dup 13957-39 13957-34 NM_001035.2:c.13957-39_13957-34dup p.? p.? 97 96 180902 -33 3' 74.7158 7.23061 0.050621 4.52185 74.7158 7.23061 0.050621 5.62941 0 Cryptic Acceptor Strongly Activated 237961307 1.3e-05 68.8557 0.476144 0.000173 67.5615 rs201986107 yes no Frequency/1000G 2 0.009385 TGGTTGTGGTTG 47 0.007555 0.001680 0.005183 0.004491 0.000060 0.018257 0.009296 0.002594 0.009737 0.018257 1842 37 150 42 1 457 1034 64 57 243806 22026 28940 9352 16698 25032 111236 24668 5854 0.000098 0.000000 0.000000 0.000214 0.000000 0.000559 0.000054 0.000000 0.000342 12 0 0 1 0 7 3 0 1 1818 37 150 40 1 443 1028 64 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7761 3574 11335 81 8 89 0.010329 0.00223339 0.00779062 0.010329 0.00223339 0.00779062 54 TGGTTG 255 Pass . 0.01 0.02 . 0.01 . . . . . . . . . . . 0.39240506 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0022 0.0078 0.01 0.0022 0.0078 0.01 . . . . . . . . . . 8.002e-03 . . . 0.0012 0.0094 0.0041 0.0002 0.0034 0.0097 0.0103 0.0217 0.0014 0.0090 0.0040 0 0.0035 0.0092 0.0105 0.0216 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000198626 RYR2 RYR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201986107 . . . . . . . . . . . . . . . . . . . . . . . 0.007789 . . . . . 0.0013 0.0078 0.0050 0.0044 6.633e-05 0.0024 0.0094 0.0103 0.0183 0.0023 0.0057 0.0107 0.0066 0 0.0037 0.0085 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs201986107 rs201986107 1 1538 10 1.I 0,12,41 +rs138333572 1 237972152 T C - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237972152 237972152 Chr1(GRCh37):g.237972152T>C 14299-49 14299-49 NM_001035.2:c.14299-49T>C p.? p.? 100 99 180902 -49 3' 84.4283 8.86811 0.794043 1.50408 84.4283 8.86811 0.794043 1.26762 0 Cryptic Donor Strongly Activated 237972152 4.33849 0.495155 68.3936 5.94271 0.665272 67.6975 rs138333572 yes no Frequency/1000G 2 T 0.000000 0 0.009185 0.000000 0.030700 0.000000 0.007000 0.013000 0.008080 0.001125 0.005266 0.002170 0.000053 0.022609 0.008810 0.004928 0.010873 0.022609 2237 27 181 22 1 694 1115 127 70 276844 24006 34372 10136 18868 30696 126558 25770 6438 0.000144 0.000000 0.000058 0.000197 0.000000 0.000652 0.000111 0.000000 0.000311 20 0 1 1 0 10 7 0 1 2197 27 179 20 1 674 1101 127 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8233 3871 12104 65 3 68 0.00783321 0.000774393 0.00558659 0.00783321 0.000774393 0.00558659 216 transition T C T>C 0.000 0.367 255 PASS . 0.01 0.02 . 0.01 . 0.0092 0.013 . 0.007 0.031 . . . . . 0.52272725 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0008 0.0056 0.0078 0.0008 0.0056 0.0078 . -0.0353 . . . . . . . . 8.922e-03 . . . 0.0005 0.0098 0.0048 0 0.0047 0.0096 0.0099 0.0239 0.0006 0.0090 0.0045 0 0.0057 0.0084 0.0145 0.0238 . . . . . . intronic intronic intronic . . . 0.0092 . . . 0.29 0.2 182 ENSG00000198626 RYR2 RYR2 . . . . . . 467 0.00718727 64976 421 0.0070183 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138333572 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . 0.005587 . . . . . 0.0007 0.0084 0.0051 0.0022 5.798e-05 0.0048 0.0090 0.0114 0.0226 0.0019 0.0054 0.0132 0 0 0.0060 0.0074 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs138333572 rs138333572 1 1538 10 1/0 0,255,255 +rs41267519 1 237972189 A G - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237972189 237972189 Chr1(GRCh37):g.237972189A>G 14299-12 14299-12 NM_001035.2:c.14299-12A>G p.? p.? 100 99 180902 -12 3' 84.4283 8.86811 0.794043 1.50408 84.4283 8.36552 0.72811 I.06 -0.0465694 237972189 -63.5722 rs41267519 yes no Frequency/1000G 2 A benign,likely_benign 0.000000 0 0.009185 0.000000 0.030700 0.000000 0.007000 0.013000 0.008105 0.001125 0.005319 0.002167 0.000053 0.022646 0.008833 0.004926 0.010843 0.022646 2246 27 183 22 1 697 1119 127 70 277124 24000 34406 10152 18868 30778 126682 25782 6456 0.000144 0.000000 0.000058 0.000197 0.000000 0.000650 0.000111 0.000000 0.000310 20 0 1 1 0 10 7 0 1 2206 27 181 20 1 677 1105 127 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8219 3847 12066 65 3 68 0.00784645 0.000779221 0.00560409 0.00784645 0.000779221 0.00560409 298 RCV000332608.1|RCV000277586.1|RCV000036694.3 germline|germline|germline clinical testing|clinical testing|clinical testing Likely benign|Likely benign|Benign 1|1|1 Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy, ARVC|not specified transition A G A>G 0.520 -0.440 255 PASS . 0.01 0.02 . 0.01 . 0.0092 0.013 . 0.007 0.031 . . . . . 0.56363636 . . germline 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign//\%//\@Likely//\@benign//\%//\@Likely//\@benign Benign|Likely_benign|Likely_benign RCV000036694.3|RCV000277586.1|RCV000332608.1 . MedGen|MedGen|MedGen:Orphanet CN169374|CN239181|C1631597:ORPHA3286 2 . . . 55.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0008 0.0056 0.0078 0.0008 0.0056 0.0078 . 0.3286 . . . . . . . . 8.944e-03 . . . 0.0005 0.0098 0.0048 0 0.0047 0.0096 0.0099 0.0239 0.0006 0.0090 0.0045 0 0.0057 0.0084 0.0145 0.0239 . . . . . . intronic intronic intronic . . . 0.0092 . . . 0.32 0.19 182 ENSG00000198626 RYR2 RYR2 . . . . . . 469 0.00721805 64976 423 0.00705165 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41267519 0.011 0.022 . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000036694.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000036694.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000036694.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . 0.0005 0.024 . 0.005604 . . . . . 0.0007 0.0084 0.0051 0.0022 5.798e-05 0.0048 0.0090 0.0113 0.0226 0.0020 0.0054 0.0132 0 0 0.0060 0.0074 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs41267519 rs41267519 rs41267519 rs41267519 1 1538 10 1/0 0,255,255 +rs147311361 1 237991767 T C - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237991767 237991767 Chr1(GRCh37):g.237991767T>C 14655+22 14655+22 NM_001035.2:c.14655+22T>C p.? p.? 102 102 180902 22 5' 91.1667 9.84565 0.986956 1.96349 91.1667 9.84565 0.986956 2.44372 0 rs147311361 yes no Frequency/1000G 2 T 0.000000 0 0.009385 0.000000 0.030700 0.000000 0.008000 0.013000 0.008211 0.001152 0.006587 0.002808 0.000000 0.021778 0.008963 0.005128 0.010587 0.021778 1549 20 162 24 0 489 695 106 53 188640 17356 24594 8546 12472 22454 77542 20670 5006 0.000148 0.000000 0.000000 0.000234 0.000000 0.000802 0.000077 0.000000 0.000400 14 0 0 1 0 9 3 0 1 1521 20 162 22 0 471 689 106 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8131 3789 11920 59 3 62 0.00720391 0.000791139 0.00517443 0.00720391 0.000791139 0.00517443 99 transition T C T>C 0.000 0.044 255 PASS . 0.01 0.02 . 0.01 . 0.0094 0.013 . 0.008 0.031 . . . . . 0.61904764 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0008 0.0052 0.0072 0.0008 0.0052 0.0072 . 0.2060 . . . . . . . . 6.259e-03 . . . 0.0004 0.0134 0.0106 0 0.0152 0.0105 0.0136 0.0237 0.0005 0.0147 0.0094 0 0.0088 0.0120 0.0152 0.0236 . . . . . . intronic intronic intronic . . . 0.0094 . . . 0.28 0.28 182 ENSG00000198626 RYR2 RYR2 . . . . . . 482 0.00741812 64976 435 0.00725169 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147311361 0.011 0.022 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv193e1 0.005174 . . . . . 0.0005 0.0087 0.0063 0.0029 0 0.0049 0.0091 0.0112 0.0218 0.0018 0.0058 0.0143 0 0 0.0060 0.0082 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs147311361 rs147311361 1 1538 10 1/0 0,255,255 +rs41310589 1 241846828 C T - WDR64 26570 WD repeat domain 64 NM_144625.4 1 4371 3246 NP_653226.4 B1ANS9 substitution synonymous exon GRCh37 241846828 241846828 Chr1(GRCh37):g.241846828C>T 634 634 NM_144625.4:c.634C>T p.Leu212= p.Leu212Leu 6 40 3' 92.8835 9.0774 0.972972 9.74681 92.8835 9.0774 0.972972 9.52756 0 rs41310589 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.004451 0.001083 0.001914 0.003058 0.000000 0.000171 0.008759 0.002238 0.004187 0.008759 677 16 37 21 0 3 542 41 17 152110 14780 19330 6868 9372 17496 61882 18322 4060 0.000026 0.000000 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 2 0 0 0 0 0 2 0 0 146 9 1 0 0 0 122 6 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 2.223 L Leu CTG 0.404 L Leu TTG 0.127 212 255 PASS . 0.0014 . . 0.004 . 0.0008 . . 0.004 . . . WDR64:NM_144625:exon6:c.C634T:p.L212L . . 0.5625 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L212|WDR64|mRNA|CODING|NM_144625|NM_144625.ex.6) . . . . . . . 1.1789 . . . . . . . . . . . . 0.0010 0.0033 0 0 0.0263 0.0069 0 0.0001 0.0007 0.0022 0 0 0.0037 0.0056 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.39 0.44 182 ENSG00000162843 WDR64 WDR64 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41310589 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . 4.III 0.0011 0.0044 0.0019 0.0032 0 0.0023 0.0089 0.0029 0.0002 0.0010 0.0048 0.0013 0 0 0.0019 0.0082 0.0083 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs41310589 rs41310589 rs41310589 rs41310589 1 1538 10 1/0 0,255,255 +rs750583860 1 242121429 T C - BECN2 38606 Beclin 2 NM_001290693.1 1 1296 1296 NP_001277622.1 A8MW95 substitution missense exon GRCh37 242121429 242121429 Chr1(GRCh37):g.242121429T>C 361 361 NM_001290693.1:c.361T>C p.Cys121Arg p.Cys121Arg 1 615687 rs750583860 no no 0 T 0.000000 0 transition T C T>C 1.000 3.676 C Cys TGC 0.552 R Arg CGC 0.190 121 -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 255 PASS . . . . . . . . . . . . . BECN2:NM_001290693:exon1:c.T361C:p.C121R . . 0.55185187 . . @ 149 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 270.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C121R|BECN2|mRNA|CODING|NM_001290693|NM_001290693.ex.1) . . . . . . . I.90 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . ncRNA_exonic intergenic exonic . . . @ . . . . . . ENSG00000196289 . BECN2 . dist\x3d68188\x3bdist\x3d37363 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs750583860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,233 +rs566344327 1 243220134 G A - LINC01347 50566 Long intergenic non-protein coding RNA 1347 NR_029401.1 -1 3834 0 substitution exon GRCh37 243220134 243220134 Chr1(GRCh37):g.243220134G>A 3316 3316 NR_029401.1:n.3316C>T 18 439 3' 81.3722 4.00422 0.640215 0 81.3722 4.00422 0.640215 0 0 Cryptic Acceptor Strongly Activated 243220125 0.26962 0.022736 76.4308 0.833161 0.038756 79.1426 rs566344327 yes no Frequency 1 0.000000 0 0.001887 0.000000 0.000000 0.000000 0.000000 0.000000 0.001013 0.011162 0.004124 0.011162 58 0 0 0 0 0 15 39 4 30732 8732 828 286 1620 0 14802 3494 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 0 0 0 0 0 15 39 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.650 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5116279 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H1106Y|LINC01347|Non-coding_transcript|NON_CODING|NR_029401|NR_029401.ex.18) . . . . . . . -0.2252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000253326 LOC731275 LINC01347 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs566344327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0019 0 0 0 0.0112 0.0010 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2631166 1 243328208 G A - CEP170 28920 Centrosomal protein 170kDa NM_014812.2 -1 7184 4755 NP_055627.2 Q5SW79 substitution synonymous exon GRCh37 243328208 243328208 Chr1(GRCh37):g.243328208G>A 3054 3054 NM_014812.2:c.3054C>T p.Pro1018= p.Pro1018Pro 13 613023 -623 5' 87.8485 8.76378 0.963888 3.33553 87.8485 8.76378 0.963888 3.33553 0 rs2631166 yes no Frequency 1 A 0.000000 0 0.000234 0.000456 0.000000 0.000220 0.000164 0.000070 0.000270 0.000367 0.000496 0.000456 61 10 0 2 3 2 32 9 3 260768 21912 33734 9096 18332 28506 118588 24550 6050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 10 0 2 3 2 32 9 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424486|COSM5424486|COSM5424486 Large intestine|Haematopoietic and lymphoid tissue|Central nervous system 0.000896|0.001695|0.000416 2231|3540|2405 transition C T C>T 0.984 -0.198 P Pro CCC 0.328 P Pro CCT 0.283 1018 243 PASS . . . . . . . . . . . . . . . . 0.2820513 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . -0.6856 . . . . . . . . 2.690e-03 . . . 0.0006 0.0019 0.0003 0.0004 0 0.0010 0.0015 0.0074 0.0006 0.0016 0.0003 0.0004 0 0.0007 0.0015 0.0074 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.61 0.31 182 ENSG00000143702 CEP170 CEP170 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2631166 . . . . . . . . . . . . III.32 . ENST00000336415 V.15 II.86 . 0.200000 . . . . . . . . . II.86 0 5.068e-05 0 0.0002 0 0.0002 2.797e-05 0.0002 7.016e-05 0.0015 0.0020 0 0 0.0026 0.0016 0.0026 0.0026 . . . . 0.296 0.296000 . . 0.200000 . . 1.0E-243 . . . . . . . . . 0.296 . . rs2631166 rs2631166 rs2631166 rs2631166 1 1538 10 1/0 0,223,255 +rs372623014 1 243354503 A G - CEP170 28920 Centrosomal protein 170kDa NM_014812.2 -1 7184 4755 NP_055627.2 Q5SW79 substitution missense exon GRCh37 243354503 243354503 Chr1(GRCh37):g.243354503A>G 925 925 NM_014812.2:c.925T>C p.Ser309Pro p.Ser309Pro 8 613023 -184 5' 82.523 9.06409 0.604928 0 82.523 9.06409 0.604928 0 0 rs372623014 yes no Frequency 1 A 0.000000 0 0.000117 0.000090 0.000000 0.000000 0.000000 0.000036 0.000218 0.000000 0.000333 0.000218 29 2 0 0 0 1 24 0 2 248718 22304 31352 9614 17208 27538 110316 24374 6012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 2 0 0 0 1 24 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8097 3607 11704 1 1 2 0.000123487 0.000277162 0.000170853 0.000123487 0.000277162 0.000170853 40 transition T C T>C 1.000 1.900 S Ser TCC 0.220 P Pro CCC 0.328 309 11 9 Frog -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 73.35 0.00 Tolerated 0.38 III.50 good 7.088E-1 0.004396 255 PASS . . . . . . . . . . . . . . . . 0.3908046 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.311 . @ . . . . . 1 0.473 . . 87.0 . . . 0.0003 0.0002 0.0001 0.0003 0.0002 0.0001 . -0.3043 -0.097 -0.304 c . . . . . 1.364e-04 . . . 0.0001 0.0001 0 0 0 0.0002 0 8.708e-05 0.0002 0.0002 0 0 0 0.0003 0 8.761e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.260 . . exonic exonic exonic . . 0.638 @ . . . 0.65 0.35 182 ENSG00000143702 CEP170 CEP170 . . . 0.573 0.215 . . . . . . . Uncertain_significance . 0 . 0.486 . . . . T 0.217 0.008 . . 37 . 0.152 . . 0.106 . . . 0.254 0.422 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.030 . . 0 0 0 0 0 0 . 0.135 . . 0.179 . . . . . . 0 0.122 . . . . . 0.403 . 0.331 . HET 0.23 rs372623014 . . . . . . . . . . . . IX.02 3.44E-4 . IV.91 IV.91 . 0.350000 . . . . 0.000171 . 0.387 . . IV.91 7.328e-05 0.0001 0 0 0 0 0.0002 0.0004 3.631e-05 0.0001 9.799e-05 0 0 0 0 0.0001 0 . . 0.924 . 1.853 1.853000 . . 0.350000 . . 1.0E-255 0.999 0.424 . 0.888 1.000 . 0.365 . 0.911 1.853 1.062 0.0003 . . rs372623014 . 1 1538 10 1/0 0,255,255 +rs190757556 1 245809373 G A - KIF26B 25484 Kinesin family member 26B NM_018012.4 1 13593 6327 NP_060482.2 Q2KJY2 substitution intron GRCh37 245809373 245809373 Chr1(GRCh37):g.245809373G>A 2099-50 2099-50 NM_018012.4:c.2099-50G>A p.? p.? 10 9 614026 -50 3' 70.0835 6.10012 0.21932 8.01236 70.0835 6.10012 0.21932 7.88271 0 Cryptic Acceptor Strongly Activated 245809384 0.000733 1.37624 0.000383 76.1126 rs190757556 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.003100 0.001000 0.007000 0.000000 0.004548 0.000462 0.000634 0.001633 0.000000 0.002208 0.006083 0.013312 0.005660 0.013312 1204 11 21 15 0 62 740 320 35 264750 23784 33110 9186 18716 28078 121654 24038 6184 0.000060 0.000000 0.000000 0.000000 0.000000 0.000000 0.000082 0.000250 0.000000 8 0 0 0 0 0 5 3 0 1188 11 21 15 0 62 730 314 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8209 3806 12015 45 2 47 0.0054519 0.00052521 0.00389653 0.0054519 0.00052521 0.00389653 30 transition G A G>A 0.000 -0.279 255 PASS . 0.0023 . . 0.01 . 0.0022 . 0.001 0.007 0.0031 . . . . . 0.5576923 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . INTRON(MODIFIER||||KIF26B|mRNA|CODING|NM_018012|) 0.0005 0.0039 0.0055 0.0005 0.0039 0.0055 . 0.5769 . . . . . . . . 4.762e-03 . . . 0.0006 0.0034 0.0005 0 0.0130 0.0046 0.0044 0.0025 0.0007 0.0047 0.0005 0 0.0146 0.0063 0.0060 0.0025 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.65 0.63 182 ENSG00000162849 KIF26B KIF26B . . . . . . 264 0.00406304 64976 253 0.00421765 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190757556 . . . . . . . . . . . . . . . . . . . . . . . 0.003897 . . . . . 0.0005 0.0043 0.0006 0.0017 0 0.0138 0.0056 0.0046 0.0022 0.0003 0.0064 0.0012 0 0 0.0106 0.0097 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190757556 rs190757556 1 1538 10 1/0 0,255,255 +rs145616559 1 247016298 A C - AHCTF1 24618 AT-hook containing transcription factor 1 NM_015446.4 -1 8633 6828 NP_056261.4 substitution intron GRCh37 247016298 247016298 Chr1(GRCh37):g.247016298A>C 4590+95 4590+95 NM_015446.4:c.4590+95T>G p.? p.? 32 32 610853 95 5' 69.9046 0 0.156394 0 69.9046 0 0.156394 0 0 New Acceptor Site 247016297 3.77587 0.010679 65.9641 rs145616559 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.005000 0.002900 0.004809 0.001488 0.002387 0.000000 0.000000 0.000000 0.008390 0.000861 0.005092 0.008390 149 13 2 0 0 0 126 3 5 30984 8736 838 302 1622 0 15018 3486 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 149 13 2 0 0 0 126 3 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T G T>G 0.000 -0.602 255 PASS . 0.0018 0.0028 . 0.004 . 0.0018 0.0029 . 0.005 0.002 . . . . . 0.75 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||AHCTF1|mRNA|CODING|NM_015446|) . . . . . . . -0.0396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.18 0.08 182 ENSG00000153207 AHCTF1 AHCTF1 . . . . . . 331 0.00509419 64976 323 0.00538459 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs145616559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0048 0.0024 0 0 0.0009 0.0084 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs145616559 rs145616559 1 1538 10 1/0 0,255,255 +rs753302170 1 247062666 A G - AHCTF1 24618 AT-hook containing transcription factor 1 NM_015446.4 -1 8633 6828 NP_056261.4 substitution intron GRCh37 247062666 247062666 Chr1(GRCh37):g.247062666A>G 1521+87 1521+87 NM_015446.4:c.1521+87T>C p.? p.? 11 11 610853 87 5' 86.8647 IX.15 0.979204 0 86.8647 IX.15 0.979204 0 0 rs753302170 yes no Frequency 1 A 0.000000 0 0.000904 0.000458 0.000000 0.000000 0.000000 0.000000 0.001599 0.000000 0.000000 0.001599 28 4 0 0 0 0 24 0 0 30984 8734 838 302 1622 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 4 0 0 0 0 24 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.5151515 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||AHCTF1|mRNA|CODING|NM_015446|) . . . . . . . 0.2051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000153207 AHCTF1 AHCTF1 . . . . . . 48 0.000738734 64976 48 0.000800187 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs753302170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0009 0 0 0 0 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs61857491 1 248084798 C T - OR2T8 15020 Olfactory receptor, family 2, subfamily T, member 8 NM_001005522.1 1 939 939 NP_001005522.1 A6NH00 substitution missense exon GRCh37 248084798 248084798 Chr1(GRCh37):g.248084798C>T 479 479 NM_001005522.1:c.479C>T p.Ala160Val p.Ala160Val 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs61857491 yes no Frequency 1 C 0.000000 0 0.002520 0.020934 0.001529 0.006812 0.001091 0.000785 0.000906 0.000750 0.003756 0.020934 554 285 47 60 18 22 88 15 19 219834 13614 30736 8808 16498 28014 97118 19988 5058 0.000055 0.000735 0.000000 0.000000 0.000000 0.000000 0.000021 0.000000 0.000000 6 5 0 0 0 0 1 0 0 542 275 47 60 18 22 86 15 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3677633|COSM3677633 Pancreas|Haematopoietic and lymphoid tissue 0.000569|0.000283 1758|3530 transition C T C>T 0.000 -0.440 A Ala GCT 0.263 V Val GTT 0.178 160 10 9 Armadillo 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 65.28 0.00 Tolerated 0.2 III.87 good 7.453E-2 0.007273 255 PASS . . . . . . . . . . . ENSG00000177462:ENST00000319968:exon1:c.C479T:p.A160V OR2T8:uc010pzc.2:exon1:c.C479T:p.A160V OR2T8:NM_001005522:exon1:c.C479T:p.A160V . . 0.3888889 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.004 . . 18.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A160V|OR2T8|mRNA|CODING|NM_001005522|NM_001005522.ex.1) . . . . . . . -1.3606 -1.375 -1.361 c . . . . . 3.036e-03 . . . 0.0060 0.0030 0.0035 0.0009 0.0005 0.0031 0.0050 0.0022 0.0054 0.0026 0.0036 0.0011 0.0021 0.0025 0.0027 0.0021 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.106 @ . . . 0.09 0.05 182 ENSG00000177462 OR2T8 OR2T8 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.075 . . . . T 0.010 0.001 . . 37 . 0.001 . . 0.257 . . . 0.039 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.162 . . . . . . 0 0.026 . . . . . 0.018 . 0.166 . HET 0.87 rs61857491 . . . . . . . . . . . . I.13 8.27E-4 ENST00000319968 III.56 -0.703 . 0.970000 A6NH00 . . . . . 0.019 . . . 0.0199 0.0023 0.0015 0.0069 0.0011 0.0007 0.0009 0.0037 0.0008 0.0273 0.0086 0.0068 0 0 0.0015 0.0019 0.0039 . . 0.133 . -0.059 -0.059000 . . 0.970000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.013 . 0.110 -0.059 -0.501 . rs61857491 rs61857491 rs61857491 rs61857491 1 1538 10 1/0 0,255,255 +rs61856417 1 248247237 C A - OR2L13 19578 Olfactory receptor, family 2, subfamily L, member 13 NM_001304535.1 1 1921 939 NP_001291464.1 Q8N349 substitution intron GRCh37 248247237 248247237 Chr1(GRCh37):g.248247237C>A -15441 -15441 NM_001304535.1:c.-18-15423C>A p.? p.? 2 1 -15423 3' 86.1141 9.1252 0.953637 6.11959 86.1141 9.1252 0.953637 6.11959 0 rs61856417 no no 0 C 0.000000 0 0.003135 0.004783 0.000000 0.000000 0.002703 0.000000 0.002448 0.003327 0.001185 0.004783 85 39 0 0 4 0 31 10 1 27116 8154 702 268 1480 0 12662 3006 844 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 39 0 0 4 0 31 10 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion C A C>A 0.000 -0.924 244 PASS . . . . . . . . . . . . . . . . 0.28712872 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . -0.4095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.21 0.13 182 ENSG00000197067 OR2L13 OR2L13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61856417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0031 0 0 0.0027 0.0033 0.0024 0.0012 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs61856417 rs61856417 rs61856417 rs111275277 1 1538 10 1/0 0,240,255 +rs147622615 1 249208343 A G - PGBD2 19399 PiggyBac transposable element derived 2 NM_170725.2 1 2709 1779 NP_733843.1 Q6P3X8 substitution intron GRCh37 249208343 249208343 Chr1(GRCh37):g.249208343A>G 17+265 17+265 NM_170725.2:c.17+265A>G p.? p.? 2 2 265 5' 84.5905 9.78584 0.947046 1.64492 84.5905 9.78584 0.947046 1.64492 0 rs147622615 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.006425 0.001490 0.003580 0.013333 0.000000 0.000000 0.010592 0.004293 0.005092 0.013333 199 13 3 4 0 0 159 15 5 30972 8724 838 300 1622 0 15012 3494 982 0.015075 0.000000 0.000000 0.000000 0.000000 0.000000 0.018868 0.000000 0.000000 3 0 0 0 0 0 3 0 0 193 13 3 4 0 0 153 15 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition A G A>G 0.000 -1.812 255 PASS . 0.0018 0.0028 . 0.004 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.4390244 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.4467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.38 0.43 182 ENSG00000185220 PGBD2 PGBD2 . . . . . . 294 0.00452475 64976 287 0.00478445 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147622615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0064 0.0036 0.0133 0 0.0043 0.0106 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs147622615 rs147622615 1 1538 10 1/0 0,255,255 +rs190616122 2 275091 A G - ACP1 122 Acid phosphatase 1, soluble NM_004300.3 1 1552 477 NP_004291.1 P24666 substitution intron GRCh37 275091 275091 Chr2(GRCh37):g.275091A>G 232-49 232-49 NM_004300.3:c.232-49A>G p.? p.? 4 3 171500 -49 3' 81.2554 9.88847 0.912 4.53204 81.2554 9.88847 0.912 4.72327 0 rs190616122 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.002819 0.000601 0.001478 0.000477 0.000000 0.000140 0.004872 0.001646 0.001777 0.004872 652 13 33 4 0 3 550 40 9 231292 21618 22320 8392 15224 21482 112884 24308 5064 0.000035 0.000000 0.000000 0.000238 0.000000 0.000000 0.000053 0.000000 0.000000 4 0 0 1 0 0 3 0 0 644 13 33 2 0 3 544 40 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8556 4398 12954 36 4 40 0.00418994 0.000908678 0.00307834 0.00418994 0.000908678 0.00307834 63 transition A G A>G 0.000 0.125 255 PASS . 0.0027 0.01 . 0.01 . 0.0014 0.0029 . 0.005 . . . . . . 0.6923077 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . 0.0009 0.0031 0.0042 0.0009 0.0031 0.0042 . 0.1476 . . . . . . . . 2.677e-03 . . . 0.0003 0.0025 0.0019 0 0.0022 0.0045 0.0014 0.0002 0.0002 0.0026 0.0019 0 0.0018 0.0043 0.0029 0.0002 . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.45 0.1 182 ENSG00000143727 ACP1 ACP1 . . . . . . 245 0.00377062 64976 238 0.00396759 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs190616122 . . . . . . . . . . . . . . . . . . . . . . . 0.003078 . . . . . 0.0005 0.0027 0.0015 0.0005 0 0.0016 0.0045 0.0017 0.0001 0.0007 0.0039 0.0012 0 0 0.0017 0.0071 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190616122 rs190616122 1 1538 10 1/0 0,255,255 +rs149085075 2 672826 G A - TMEM18 25257 Transmembrane protein 18 NM_001352681.1 -1 6200 432 NP_001339610.1 substitution missense exon GRCh37 672826 672826 Chr2(GRCh37):g.672826G>A 224 224 NM_001352681.1:c.224C>T p.Ala75Val p.Ala75Val 3 613220 -19 5' 86.8044 8.70331 0.992666 5.99538 86.8044 8.70331 0.992666 5.30177 0 Cryptic Donor Strongly Activated 672828 63.4238 1.40282 0.244871 69.8063 rs149085075 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000753 0.000163 0.000083 0.000313 0.000000 0.000000 0.001289 0.000377 0.000255 0.001289 143 3 1 2 0 0 127 9 1 189846 18436 12068 6394 9098 17546 98512 23870 3922 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 1 0 0 0 0 0 1 0 0 141 3 1 2 0 0 125 9 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 61 transition C T C>T 1.000 1.013 A Ala GCG 0.107 V Val GTG 0.468 75 12 3 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 251.02 0.00 Tolerated 0.57 III.27 255 PASS . . . . . . 0.0002 . . 0.001 . . TMEM18:uc002qwl.3:exon3:c.C215T:p.A72V TMEM18:NM_152834:exon3:c.C215T:p.A72V . . 0.5 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.098 . @ . . . . . 1 0.068 . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A72V|TMEM18|mRNA|CODING|NM_152834|NM_152834.ex.3) . 0.0004 0.0006 . 0.0004 0.0006 . -1.2977 -1.060 -1.298 c . . . . . 5.446e-04 . . . 0.0002 0.0004 8.697e-05 0 0.0005 0.0007 0 0 0.0001 0.0005 8.967e-05 0 0.0005 0.0008 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.193 0.0002 . . . 0.31 0.54 182 ENSG00000151353 TMEM18 TMEM18 . . . 1.000 0.434 . 25 0.000384757 64976 24 0.000400093 59986 Uncertain_significance . 0 . 0.251 . . . . T 0.099 0.004 . . 37 . 0.052 . . 0.411 . . . 0.002 0.227 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . 0.112 . . 0.013 . . . . . . 0 0.030 . . . . . 0.240 . 0.112 . HET 0.52 rs149085075 . . . . . . . . . . . . 7.0295 0.0 . 5.XII 1.VI . 0.660000 Q96B42 . . . 0.000384 . 0.117 . . . 0.0002 0.0006 8.905e-05 0.0003 0 0.0003 0.0010 0.0003 0 0.0001 0.0014 0 0 0 0.0006 0.0027 0 . . 0.924 . 0.058 0.058000 . . 0.660000 . . 1.0E-255 0.982 0.353 . 0.016 0.866 . 0.475 . 0.032 0.058 0.045 0.0006 . . rs149085075 rs149085075 1 1538 10 1/0 0,255,255 +rs112481627 (chr2:905567 T/G) 2 905567 T G Not on a known gene +rs28716017 (chr2:905595 G/C) 2 905595 G C Not on a known gene +rs113734895 (chr2:905651 T/G) 2 905651 T G Not on a known gene +rs74861779 (chr2:905693 T/G) 2 905693 T G Not on a known gene +rs71337696 (chr2:905763 G/C) 2 905763 G C Not on a known gene +rs71337697 (chr2:905777 T/G) 2 905777 T G Not on a known gene +rs368624435 (chr2:905788 C/G) 2 905788 C G Not on a known gene +rs780365366 (chr2:905789 C/G) 2 905789 C G Not on a known gene +rs13403699 (chr2:905819 T/G) 2 905819 T G Not on a known gene +rs778938671 (chr2:905872 G/C) 2 905872 G C Not on a known gene +. (chr2:3579820 G/A) 2 3579820 G A Not on a known gene +. (chr2:4672687 ATAAT/A) 2 4672687 ATAAT A Not on a known gene +. 2 10762302 TA T - NOL10 25862 Nucleolar protein 10 NM_024894.3 -1 3498 2067 NP_079170.2 Q9BSC4 deletion intron GRCh37 10762303 10762303 Chr2(GRCh37):g.10762303del 1027-14866 1027-14866 NM_024894.3:c.1027-14866del p.? p.? 14 13 616197 -14866 3' 67.9066 5.23111 0.05507 2.28078 67.9066 5.23111 0.05507 2.28078 0 Cryptic Donor Strongly Activated 10762306 2.9e-05 46.4905 1.03031 0.02634 61.6002 rs70953325 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999983 0.999935 1.000000 1.000000 1.000000 1.000000 0.999970 1.000000 1.000000 1.000000 175523 15387 24692 8422 11746 22592 67714 20194 4776 175526 15388 24692 8422 11746 22592 67716 20194 4776 0.999966 0.999870 1.000000 1.000000 1.000000 1.000000 0.999941 1.000000 1.000000 87760 7693 12346 4211 5873 11296 33856 10097 2388 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes T 255 Pass 0.99 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.9756098 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000115761 NOL10 NOL10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs70953325 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs70953325 rs70953325 1 1538 255 1.I 0,0,255 +rs78862800 2 18768164 A G - NT5C1B 17818 5'-nucleotidase, cytosolic IB NM_001199087.1 -1 2921 1884 NP_001186016.1 substitution intron GRCh37 18768164 18768164 Chr2(GRCh37):g.18768164A>G 351+45 351+45 NM_001199087.1:c.351+45T>C p.? p.? 3 3 610526 45 5' 77.5301 6.74457 0.925788 3.99246 77.5301 6.74457 0.925788 4.23355 0 rs78862800 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.002000 0.000000 0.009900 0.004300 0.004497 0.001011 0.004080 0.004070 0.000000 0.001027 0.005941 0.008536 0.005633 0.008536 1064 21 124 37 0 27 616 206 33 236594 20762 30392 9090 16378 26302 103678 24134 5858 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000341 3 0 0 0 0 0 2 0 1 1058 21 124 37 0 27 612 206 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 0.044 255 PASS . 0.0032 0.0028 . 0.01 . 0.003 0.0043 . 0.0099 0.002 . . . . . 0.5185185 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1097 . . . . . . . . 3.779e-03 . . . 0.0010 0.0046 0.0035 0 0.0086 0.0073 0.0090 0.0011 0.0009 0.0051 0.0039 0 0.0091 0.0073 0.0146 0.0011 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.36 0.1 182 . . . . . . . . . 290 0.00446319 64976 275 0.0045844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78862800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0045 0.0041 0.0040 0 0.0085 0.0060 0.0057 0.0010 0.0014 0.0044 0.0048 0.0066 0 0.0086 0.0055 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs78862800 rs78862800 1 1538 10 1/0 0,255,255 +rs78862800 2 18768164 A G - NT5C1B-RDH14 38831 NT5C1B-RDH14 readthrough NM_001199103.1 -1 2533 1953 NP_001186032.1 substitution intron GRCh37 18768164 18768164 Chr2(GRCh37):g.18768164A>G 121-507 121-507 NM_001199103.1:c.121-507T>C p.? p.? 3 2 -507 3' 91.3415 9.75495 0.967792 9.06118 91.3415 9.75495 0.967792 9.06118 0 rs78862800 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.002000 0.000000 0.009900 0.004300 0.004497 0.001011 0.004080 0.004070 0.000000 0.001027 0.005941 0.008536 0.005633 0.008536 1064 21 124 37 0 27 616 206 33 236594 20762 30392 9090 16378 26302 103678 24134 5858 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000341 3 0 0 0 0 0 2 0 1 1058 21 124 37 0 27 612 206 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 0.044 255 PASS . 0.0032 0.0028 . 0.01 . 0.003 0.0043 . 0.0099 0.002 . . . . . 0.5185185 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1097 . . . . . . . . 3.779e-03 . . . 0.0010 0.0046 0.0035 0 0.0086 0.0073 0.0090 0.0011 0.0009 0.0051 0.0039 0 0.0091 0.0073 0.0146 0.0011 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.36 0.1 182 . . . . . . . . . 290 0.00446319 64976 275 0.0045844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78862800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0045 0.0041 0.0040 0 0.0085 0.0060 0.0057 0.0010 0.0014 0.0044 0.0048 0.0066 0 0.0086 0.0055 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs78862800 rs78862800 1 1538 10 1/0 0,255,255 +rs140804905 2 24426581 G A - ITSN2 6184 Intersectin 2 NM_006277.2 -1 6112 5094 NP_006268.2 Q9NZM3 substitution missense exon GRCh37 24426581 24426581 Chr2(GRCh37):g.24426581G>A 5008 5008 NM_006277.2:c.5008C>T p.Arg1670Cys p.Arg1670Cys 40 604464 72 3' 86.5504 7.84751 0.708797 VIII.46 86.5504 7.84751 0.708797 8.53367 0 C2 domain rs140804905 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.002300 0.000000 0.000000 0.001000 0.000000 0.000281 0.000375 0.000087 0.000000 0.000000 0.000000 0.000387 0.000620 0.000155 0.000620 78 9 3 0 0 0 49 16 1 277146 24020 34418 10144 18858 30778 126672 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 78 9 3 0 0 0 49 16 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4404 13000 4 2 6 0.000465116 0.000453926 0.000461326 0.000465116 0.000453926 0.000461326 83 transition C T C>T 1.000 2.385 R Arg CGC 0.190 C Cys TGC 0.552 1670 13 7 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 III.69 bad 4.413E-5 0.0002002 255 PASS 0.01 0.0023 . . 0.0013 0.0023 0.0008 . . 0.001 . . . . . . 0.44230768 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.770 . @ . . . . . 1 0.861 . . 52.0 . . . 0.0005 0.0005 0.0005 0.0005 0.0005 0.0005 . 0.6426 0.635 0.643 c . . . . . 2.999e-04 . . . 0.0006 0.0002 0 0 0.0016 0.0002 0 0 0.0007 0.0003 0 0 0.0011 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.546 0.0008 . . . 0.62 0.49 182 ENSG00000198399 ITSN2 ITSN2 . . . 0.998 0.366 . 26 0.000400148 64976 22 0.000366752 59986 Uncertain_significance . 0 . 0.155 . . . . D 0.674 0.058 . . 37 . 0.683 . . 0.725 . . . 0.526 0.530 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.814 . . 0 0 0 0 0 0 . 0.899 . . 0.656 . . . . . . 0 0.912 . . . . . 0.521 . 0.625 . HET 0 rs140804905 . . . . . . . 0.0022893772893772895 0.008130081300813009 0.0 0.0 0.0013192612137203166 11.956 5.35E-4 . V.46 IV.52 . 0.000000 . . . . 0.000461 . 0.431 . . IV.52 0.0003 0.0003 8.934e-05 0 0 0.0006 0.0004 0 0 0.0005 0.0005 0 0 0 0.0009 0.0004 0.0010 . . 0.730 . 2.735 2.735000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.494 0.162 . 0.604 . 0.652 2.735 -0.136 0.01 . . rs140804905 rs140804905 1 1538 10 1/0 0,255,255 +rs372342156 2 25064175 G A - ADCY3 234 Adenylate cyclase 3 NM_001320613.1 -1 4733 3438 NP_001307542.1 substitution synonymous exon GRCh37 25064175 25064175 Chr2(GRCh37):g.25064175G>A 1149 1149 NM_001320613.1:c.1149C>T p.His383= p.His383His 6 600291 -48 5' 78.1779 9.63223 0.873032 X.99 78.1779 9.63223 0.873032 9.95466 0 rs372342156 no no 0 G 0.000000 0 0.000018 0.000051 0.000070 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000070 4 1 2 0 0 0 1 0 0 223554 19658 28496 9140 15520 25758 98516 20984 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 0.044 H His CAC 0.587 H His CAT 0.413 383 255 PASS . . . . . . . . . . . . . ADCY3:NM_004036:exon5:c.C1149T:p.H383H . . 0.46875 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H383|ADCY3|mRNA|CODING|NM_004036|NM_004036.ex.5) . . . . . . . I.56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000138031 ADCY3 ADCY3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372342156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.139e-05 1.557e-05 7.231e-05 0 0 0 0 0 0 0 3.234e-05 0 0 0 0 6.678e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372342156 rs372342156 1 1538 10 1/0 0,255,255 +rs1465878 (chr2:26203678 T/C) 2 26203678 T C Transcript NM_002254.6: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIF3C +rs142284613 2 26689619 T A - OTOF 8515 Otoferlin NM_001287489.1 -1 6958 5994 NP_001274418.1 Q9HC10 substitution missense exon GRCh37 26689619 26689619 Chr2(GRCh37):g.26689619T>A 4463 4463 NM_001287489.1:c.4463A>T p.Asp1488Val p.Asp1488Val 36 603681 -38 5' 81.348 7.62374 0.74218 6.24175 81.348 7.62374 0.74218 V.08 0 C2 domain rs142284613 yes no Frequency/1000G 2 T uncertain_significance 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.000693 0.000250 0.001395 0.000000 0.000000 0.000000 0.001058 0.000000 0.000619 0.001395 192 6 48 0 0 0 134 0 4 277192 24022 34420 10152 18860 30782 126702 25792 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 192 6 48 0 0 0 134 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4406 12988 18 0 18 0.00209302 0 0.00138398 0.00209302 0 0.00138398 91 RCV000041544.3 germline clinical testing VUS 1 not specified COSM5354480 Large intestine 0.001772 2257 transversion A T A>T 1.000 4.725 D Asp GAC 0.539 V Val GTC 0.240 1488 12 9 Zebrafish -3 -3 -6 I.38 0 13 5.IX 54 84 152 C0 353.86 0.00 Deleterious 0.01 III.52 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0008 0.0014 . 0.003 . . . . . . 0.44131455 . . germline 94 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.884 . Uncertain//\@significance Uncertain_significance RCV000041544.3 not_specified MedGen CN169374 1 0.641 . . 213.0 . . . . 0.0014 0.0021 . 0.0014 0.0021 . 0.4963 0.503 0.496 c . . . . . 6.709e-04 . . . 0.0003 0.0009 0.0017 0 0 0.0013 0 0 0.0003 0.0007 0.0017 0 0 0.0009 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.801 . . exonic exonic exonic . . 0.640 0.0008 . . . 0.5 0.43 182 ENSG00000115155 OTOF OTOF . . . 1.000 0.747 . 40 0.000615612 64976 36 0.00060014 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.892 0.251 . . 37 . 0.847 . . 0.813 . . . 0.681 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.897 . . 0 0 0 0 1 0 . 0.764 . . 0.715 . . . . . . 0 0.253 . . . . . 0.672 . 0.845 . HET 0.01 rs142284613 . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000041544.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000041544.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000041544.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 14.5128 0.0 . IV.92 IV.92 . 0.710000 . . . . 0.001384 . 0.842 . . IV.92 0.0003 0.0007 0.0014 0 0 0 0.0010 0.0007 0 0.0001 0.0006 0.0012 0 0 0 0.0011 0 . . 0.246 . 1.984 1.984000 . . 0.710000 . . 1.0E-255 1.000 0.715 . 0.625 1.000 . 0.712 . 0.533 1.984 0.991 0.0028 . . rs142284613 rs142284613 1 1538 10 1/0 0,225,255 +rs771633268 2 26818157 C T - CIB4 33703 Calcium and integrin binding family member 4 NM_001029881.2 -1 773 558 NP_001025052.1 A0PJX0 substitution missense exon GRCh37 26818157 26818157 Chr2(GRCh37):g.26818157C>T 215 215 NM_001029881.2:c.215G>A p.Arg72Lys p.Arg72Lys 4 610646 29 3' 82.8559 12.0891 0.888871 13.6818 82.8559 12.0891 0.888871 13.3342 0 rs771633268 yes no Frequency 1 C 0.000000 0 0.000029 0.000000 0.000029 0.000000 0.000000 0.000000 0.000055 0.000000 0.000000 0.000055 8 0 1 0 0 0 7 0 0 277206 24032 34418 10148 18870 30780 126700 25792 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 1 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5900866 Skin 0.000812 1232 transition G A G>A 0.598 -0.117 R Arg AGA 0.205 K Lys AAA 0.425 72 12 7 Horse 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 64.93 0.00 Tolerated 0.68 III.14 255 PASS . . . . . . . . . . . ENSG00000157884:ENST00000288861:exon4:c.G215A:p.R72K CIB4:uc002rhm.3:exon4:c.G215A:p.R72K CIB4:NM_001029881:exon4:c.G215A:p.R72K . . 0.56363636 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.085 . @ . . . . . 1 0.057 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R72K|CIB4|mRNA|CODING|NM_001029881|NM_001029881.ex.4) . . . . . . . -1.1817 -1.054 -1.182 c . . . . . 3.157e-05 . . . 0 3.311e-05 0 0 0 7.13e-05 0 0 0 1.886e-05 0 0 0 3.683e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.665 . . exonic exonic exonic . . 0.137 @ . . . . . . ENSG00000157884 CIB4 CIB4 . . . 0.001 0.073 . . . . . . . Uncertain_significance . 0 . 0.276 . . . . T 0.240 0.009 . . 37 . 0.328 . . 0.271 . . . 0.082 0.212 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.075 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.029 . . . . . 0.318 . 0.203 . HET 0.42 rs771633268 . . . . . . . . . . . . VIII.57 . . 6.VIII 0.0854 . 0.780000 A0PJX0 . . . . . 0.170 . . . 0 2.437e-05 2.978e-05 0 0 0 4.477e-05 0 0 0 6.455e-05 0 0 0 0 0.0001 0 . . 0.283 . -0.054 -0.054000 . . 0.780000 . . 1.0E-255 0.447 0.263 . 0.302 0.986 . 0.208 . 0.062 -0.054 -0.032 . . . . . 1 1538 10 1/0 0,255,255 +rs116333153 2 27260957 C T - TMEM214 25983 Transmembrane protein 214 NM_017727.4 1 3040 2070 NP_060197.4 Q6NUQ4 substitution intron GRCh37 27260957 27260957 Chr2(GRCh37):g.27260957C>T 1153-57 1153-57 NM_017727.4:c.1153-57C>T p.? p.? 10 9 615301 -57 3' 76.4889 10.0077 0.701443 9.82014 76.4889 10.0077 0.701443 9.79584 0 rs116333153 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.006100 0.000000 0.006000 0.001400 0.005488 0.000545 0.002296 0.004544 0.000000 0.008190 0.004979 0.017733 0.007289 0.017733 1512 13 79 46 0 252 626 449 47 275488 23860 34410 10124 18836 30768 125722 25320 6448 0.000073 0.000000 0.000000 0.000198 0.000000 0.000065 0.000032 0.000474 0.000000 10 0 0 1 0 1 2 6 0 1492 13 79 44 0 250 622 437 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -2.539 255 PASS . 0.0027 . . 0.01 . 0.0026 0.0014 . 0.006 0.0061 ENSG00000119777:ENST00000444135:exon2:c.C76T:p.P26S . . . . 0.61290324 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.118 . @ . . . . . 2 0.145 . . 93.0 . . . . . . . . . . -1.1185 -1.384 -1.119 c . . . . . 5.755e-03 . . . 0.0007 0.0054 0.0020 0 0.0179 0.0056 0.0117 0.0083 0.0006 0.0058 0.0019 0 0.0191 0.0057 0.0132 0.0085 nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.003 0.0026 . . . 0.35 0.11 182 ENSG00000119777 TMEM214 TMEM214 . . . 1.000 0.747 . 295 0.00454014 64976 282 0.0047011 59986 . . 0 . . . . . . . . . . . 37 . 0.161 . . 0.368 . . . . 0.090 . . . . . . . . . . . . . . . 0.046 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . 0.001 . 0.206 . HET 0 rs116333153 . . . . . . . 0.0027472527472527475 0.0 0.0 0.0 0.0079155672823219 0.2034 . ENST00000444135 5.XII -10.2 . 0.000000 . . . . . . 0.153 . . . 0.0006 0.0055 0.0023 0.0047 0 0.0183 0.0048 0.0057 0.0082 0.0005 0.0053 0.0024 0 0 0.0140 0.0063 0.0163 . . 0.050 . -1.853 -1.853000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.028 . 0.059 -1.853 -0.670 0.01 . . rs116333153 rs116333153 1 1538 10 1/0 0,255,255 +rs181961549 2 27632075 G C - PPM1G 9278 Protein phosphatase, Mg2+/Mn2+ dependent, 1G NM_177983.2 -1 2302 1641 NP_817092.1 O15355 substitution intron GRCh37 27632075 27632075 Chr2(GRCh37):g.27632075G>C 120+95 120+95 NM_177983.2:c.120+95C>G p.? p.? 1 1 605119 95 5' 87.5642 8.40856 0.965399 XII.49 87.5642 8.40856 0.965399 XII.49 0 rs181961549 yes no Frequency/1000G 2 G 0.000000 0 0.007388 0.000000 0.016400 0.000000 0.014900 0.008600 0.008475 0.001148 0.014320 0.000000 0.000000 0.000000 0.011089 0.016314 0.017312 0.016314 262 10 12 0 0 0 166 57 17 30914 8714 838 302 1614 0 14970 3494 982 0.007634 0.000000 0.000000 0.000000 0.000000 0.000000 0.006024 0.017544 0.000000 2 0 0 0 0 0 1 1 0 258 10 12 0 0 0 164 55 17 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C G C>G 0.000 -0.198 255 PASS . 0.0032 0.0028 . 0.01 . 0.0074 0.0086 . 0.015 0.016 . . . . . 0.4893617 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||PPM1G|mRNA|CODING|NM_177983|) . . . . . . . I.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0074 . . . 0.26 0.24 182 ENSG00000115241 PPM1G PPM1G . . . . . . 430 0.00661783 64976 393 0.00655153 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181961549 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0085 0.0143 0 0 0.0163 0.0111 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs181961549 rs181961549 1 1538 10 1/0 0,255,255 +. 2 27849928 GTC G - CCDC121 25833 Coiled-coil domain containing 121 NM_001142683.2 -1 2762 1323 NP_001136155.1 deletion frameshift exon GRCh37 27849929 27849930 Chr2(GRCh37):g.27849929_27849930del 1223 1224 NM_001142683.2:c.1223_1224del p.Arg408Thrfs*6 p.Arg408Thrfs*6 2 855 3' 97.2489 XII.99 0.995813 6.37901 97.2489 XII.99 0.995813 6.37901 0 rs199568016 yes no Frequency/1000G 2 0.000000 0 0.007188 0.002300 0.018400 0.000000 0.012900 0.002900 0.009624 0.001373 0.002818 0.000690 0.000159 0.020531 0.010527 0.019076 0.010826 0.020531 2668 33 97 7 3 632 1334 492 70 277230 24038 34420 10152 18864 30782 126716 25792 6466 0.000159 0.000000 0.000000 0.000000 0.000000 0.000650 0.000079 0.000465 0.000309 22 0 0 0 0 10 5 6 1 2624 33 97 7 3 612 1324 480 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8187 4256 12443 67 10 77 0.00811728 0.00234412 0.00615016 0.00811728 0.00234412 0.00615016 118 GA 255 Pass 0.002 0.01 0.01 . 0.01 0.0023 0.0072 0.0029 . 0.013 0.018 . . . . . 0.5416667 . . . 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 96 . . . 0.0023 0.0061 0.0081 0.0023 0.0062 0.0081 . . . . . . . . . . 0.010 . . . 0.0013 0.0095 0.0028 0.0005 0.0189 0.0091 0.0168 0.0210 0.0010 0.0107 0.0028 0.0004 0.0194 0.0111 0.0173 0.0210 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000176714 CCDC121 CCDC121 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs199568016 . . . . . . . . . . . . . . . . . . . . . . . 0.006149 . . . . . 0.0012 0.0097 0.0028 0.0007 0.0002 0.0194 0.0103 0.0095 0.0205 0.0017 0.0089 0.0048 0 0 0.0169 0.0119 0.0183 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs199568016 rs199568016 1 1538 10 1.I 0,12,27 +. 2 27849928 GTC G - GPN1 17030 GPN-loop GTPase 1 NM_007266.3 1 1834 1167 NP_009197.2 deletion upstream GRCh37 27849932 27849933 Chr2(GRCh37):g.27849932_27849933del -1952 -1951 NM_007266.3:c.-1952_-1951del p.? p.? 1 611479 -2104 5' 77.9229 7.66477 0.233666 4.06642 77.9229 7.66477 0.233666 4.06642 0 rs199568016 yes no Frequency/1000G 2 0.000000 0 0.007188 0.002300 0.018400 0.000000 0.012900 0.002900 0.009624 0.001373 0.002818 0.000690 0.000159 0.020531 0.010527 0.019076 0.010826 0.020531 2668 33 97 7 3 632 1334 492 70 277230 24038 34420 10152 18864 30782 126716 25792 6466 0.000159 0.000000 0.000000 0.000000 0.000000 0.000650 0.000079 0.000465 0.000309 22 0 0 0 0 10 5 6 1 2624 33 97 7 3 612 1324 480 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8187 4256 12443 67 10 77 0.00811728 0.00234412 0.00615016 0.00811728 0.00234412 0.00615016 118 CT 255 Pass 0.002 0.01 0.01 . 0.01 0.0023 0.0072 0.0029 . 0.013 0.018 . . . . . 0.5416667 . . . 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 96 . . . 0.0023 0.0061 0.0081 0.0023 0.0062 0.0081 . . . . . . . . . . 0.010 . . . 0.0013 0.0095 0.0028 0.0005 0.0189 0.0091 0.0168 0.0210 0.0010 0.0107 0.0028 0.0004 0.0194 0.0111 0.0173 0.0210 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000176714 CCDC121 CCDC121 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs199568016 . . . . . . . . . . . . . . . . . . . . . . . 0.006149 . . . . . 0.0012 0.0097 0.0028 0.0007 0.0002 0.0194 0.0103 0.0095 0.0205 0.0017 0.0089 0.0048 0 0 0.0169 0.0119 0.0183 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs199568016 rs199568016 1 1538 10 1.I 0,12,27 +rs762244829 2 27900669 T G - SLC4A1AP 13813 Solute carrier family 4 (anion exchanger), member 1, adaptor protein NM_018158.2 1 2970 2391 NP_060628.2 Q9BWU0 substitution missense exon GRCh37 27900669 27900669 Chr2(GRCh37):g.27900669T>G 1641 1641 NM_018158.2:c.1641T>G p.Ser547Arg p.Ser547Arg 8 602655 65 3' 86.2535 7.51302 0.828667 6.51987 86.2535 7.51302 0.828667 6.64298 0 rs762244829 yes no Frequency 1 T 0.000000 0 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000032 4 0 0 0 0 0 4 0 0 276836 24028 34340 10142 18858 30720 126508 25788 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.031 0.205 S Ser AGT 0.149 R Arg AGG 0.207 547 13 9 Chicken -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 143.87 41.54 Tolerated 0.1 III.17 good 9.481E-2 0.07925 255 PASS . . . . . . . . . . . ENSG00000163798:ENST00000326019:exon8:c.T1641G:p.S547R SLC4A1AP:uc002rlk.4:exon8:c.T1641G:p.S547R SLC4A1AP:NM_018158:exon8:c.T1641G:p.S547R . . 0.5 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.814 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S547R|SLC4A1AP|mRNA|CODING|NM_018158|NM_018158.ex.8) . . . . . . . -0.1255 -0.258 -0.125 c . . . . . 2.368e-05 . . . 0 2.207e-05 0 0 0 4.754e-05 0 0 0 9.426e-06 0 0 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.206 @ . . . . . . ENSG00000163798 SLC4A1AP SLC4A1AP . . . 0.012 0.123 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . T 0.412 0.019 . . 37 . 0.361 . . 0.212 . . . 0.355 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.379 . . 0 0 0 0 0 0 . 0.498 . . 0.481 . . . . . . 0 0.292 . . . . . 0.330 . 0.250 . HET 0.02 rs762244829 . . . . . . . . . . . . VIII.21 . ENST00000326019 V.37 I.28 . 0.060000 Q9BWU0 . . . . . 0.141 . . . 0 1.22e-05 0 0 0 0 2.691e-05 0 0 0 3.228e-05 0 0 0 0 6.661e-05 0 . . 0.924 . 0.247 0.247000 . . 0.060000 . . 1.0E-255 0.013 0.187 . 0.385 0.983 . 0.094 . 0.231 0.247 -0.368 . . . . . 1 1538 10 1/0 0,255,255 +rs747496826 2 27900696 A G - SLC4A1AP 13813 Solute carrier family 4 (anion exchanger), member 1, adaptor protein NM_018158.2 1 2970 2391 NP_060628.2 Q9BWU0 substitution synonymous exon GRCh37 27900696 27900696 Chr2(GRCh37):g.27900696A>G 1668 1668 NM_018158.2:c.1668A>G p.Lys556= p.Lys556Lys 8 602655 92 3' 86.2535 7.51302 0.828667 6.51987 86.2535 7.51302 0.828667 6.51987 0 rs747496826 yes no Frequency 1 A 0.000000 0 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000032 4 0 0 0 0 0 4 0 0 277052 24030 34400 10148 18862 30764 126602 25788 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.992 -0.037 K Lys AAA 0.425 K Lys AAG 0.575 556 255 PASS . . . . . . . . . . . ENSG00000163798:ENST00000326019:exon8:c.A1668G:p.K556K SLC4A1AP:uc002rlk.4:exon8:c.A1668G:p.K556K SLC4A1AP:NM_018158:exon8:c.A1668G:p.K556K . . 0.45454547 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K556|SLC4A1AP|mRNA|CODING|NM_018158|NM_018158.ex.8) . . . . . . . I.87 . . . . . . . . 2.368e-05 . . . 0 2.208e-05 0 0 0 4.751e-05 0 0 0 9.428e-06 0 0 0 1.841e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163798 SLC4A1AP SLC4A1AP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747496826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.219e-05 0 0 0 0 2.688e-05 0 0 0 3.228e-05 0 0 0 0 6.66e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs564923302 2 29063140 C T - SPDYA 30613 Speedy homolog A (Xenopus laevis) NM_182756.3 1 1817 942 NP_877433.2 Q5MJ70 substitution missense exon GRCh37 29063140 29063140 Chr2(GRCh37):g.29063140C>T 655 655 NM_182756.3:c.655C>T p.Arg219Trp p.Arg219Trp 7 614029 103 3' 87.6951 5.92452 0.970934 0 87.6951 5.92452 0.970934 0 0 transition C T C>T 1.000 1.981 R Arg CGG 0.207 W Trp TGG 1.000 219 11 11 Tetraodon -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C65 0.00 101.29 Deleterious 0 III.72 bad 1.233E-4 0.0001143 255 PASS . . . . . . . . . . . . . . . . 0.654321 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.944 . @ . . . . . 1 0.986 . . 81.0 . . . . . . . . . . 0.4692 0.416 0.469 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.427 0.0012 . . . . . . ENSG00000163806 SPDYA SPDYA . . . 0.018 0.131 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.459 0.023 . . 37 . 0.761 . . 0.790 . . . 0.592 0.494 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.901 . . 0 0 0 0 0 0 . 0.899 . . 0.749 . . . . . . 0 0.784 . . . . . 0.755 . 0.836 . HET 0 . . . . . . . . . . . . . 15.5187 . . V.64 3.VIII . 0.000000 . . . . . . 0.422 . . 3.VIII . . . . . . . . . . . . . . . . . . . 0.246 . 0.801 0.801000 . . 0.000000 . . 1.0E-255 0.999 0.424 . 0.697 0.998 . 0.365 . 0.144 0.801 -0.044 . . . . . 1 1538 10 1/0 0,255,255 +rs190797611 2 29352839 A G - CLIP4 26108 CAP-GLY domain containing linker protein family, member 4 NM_001287527.1 1 4289 2118 NP_001274456.1 Q8N3C7 substitution intron GRCh37 29352839 29352839 Chr2(GRCh37):g.29352839A>G 134-1285 134-1285 NM_001287527.1:c.134-1285A>G p.? p.? 3 2 -1285 3' 96.0891 9.90697 0.965197 6.46547 96.0891 9.90697 0.965197 6.46547 0 Cryptic Acceptor Strongly Activated 29352844 3.34784 0.906312 5.1749 0.886363 90.1382 rs190797611 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.000800 0.000000 0.000000 0.008900 0.004300 0.006355 0.002874 0.003580 0.000000 0.000000 0.000000 0.009914 0.004315 0.005123 0.009914 196 25 3 0 0 0 148 15 5 30842 8700 838 302 1622 0 14928 3476 976 0.005102 0.000000 0.000000 0.000000 0.000000 0.000000 0.006757 0.000000 0.000000 1 0 0 0 0 0 1 0 0 194 25 3 0 0 0 146 15 5 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition A G A>G 0.000 -0.117 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.0026 0.0043 . 0.0089 . . . . . . 0.5 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.1706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.34 0.48 182 ENSG00000115295 CLIP4 CLIP4 . . . . . . 467 0.00718727 64976 454 0.00756843 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190797611 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0064 0.0036 0 0 0.0043 0.0099 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs190797611 rs190797611 1 1538 10 1/0 0,255,255 +rs141527084 2 31147465 C T - GALNT14 22946 Polypeptide N-acetylgalactosaminyltransferase 14 NM_001253826.1 -1 2750 1674 NP_001240755.1 substitution intron GRCh37 31147465 31147465 Chr2(GRCh37):g.31147465C>T 1250+141 1250+141 NM_001253826.1:c.1250+141G>A p.? p.? 13 13 608225 141 5' 71.3518 7.90757 0.859766 5.1232 71.3518 7.90757 0.859766 5.1232 0 rs141527084 yes no Frequency/1000G 2 G 0.000000 0 0.005791 0.001500 0.019400 0.000000 0.007000 0.001400 0.003911 0.001032 0.002387 0.026490 0.000000 0.000000 0.006206 0.002003 0.002037 0.026490 121 9 2 8 0 0 93 7 2 30942 8720 838 302 1620 0 14986 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 9 2 8 0 0 93 7 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -1.086 255 PASS 0.01 0.01 0.0028 . 0.01 0.0015 0.0058 0.0014 . 0.007 0.019 . . . . . 0.5263158 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.1392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0058 . . . 0.3 0.24 182 ENSG00000158089 GALNT14 GALNT14 . . . . . . 510 0.00784905 64976 481 0.00801854 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141527084 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833659 . . . . . . . . . . . . . . . 0.0010 0.0039 0.0024 0.0265 0 0.0020 0.0062 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs141527084 rs141527084 1 1538 10 1/0 0,255,255 +rs377409410 2 31751217 A G - SRD5A2 11285 Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) NM_000348.3 -1 2446 765 NP_000339.2 P31213 substitution 3'UTR NG_008365.1 59825 59825 NG_008365.1:g.59825T>C *49 *49 NM_000348.3:c.*49T>C p.? p.? 5 607306 116 3' 90.9386 13.3251 0.988476 8.35967 90.9386 13.3251 0.988476 8.35967 0 rs377409410 yes no Frequency 1 A 0.000000 0 0.000343 0.000000 0.000321 0.000118 0.000080 0.000045 0.000655 0.000049 0.000406 0.000655 64 0 8 1 1 1 50 1 2 186706 16670 24936 8468 12480 22440 76338 20448 4926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 0 8 1 1 1 50 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8111 3654 11765 3 0 3 0.000369731 0 0.000254929 0.000369731 0 0.000254929 37 transition T C T>C 0.000 255 PASS . . . . . . . . . . . . . . . . 0.5217391 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . UTR_3_PRIME(MODIFIER||||SRD5A2|mRNA|CODING|NM_000348|NM_000348.ex.5) . 0.0003 0.0004 . 0.0003 0.0004 . 0.5799 . . . . . . . . 2.554e-04 . . . 0 0.0004 0.0013 0 0 0.0007 0 0.0001 0 0.0003 0 0 0 0.0007 0 0.0001 . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.5 0.38 182 ENSG00000049319 SRD5A2 SRD5A2 . uc002rnw.1:c.*49T>C NM_000348:c.*49T>C . . . 22 0.000338587 64976 22 0.000366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377409410 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv456030 0.000255 . . . . . 0 0.0003 0.0003 0.0001 9.205e-05 5.894e-05 0.0006 0.0003 4.456e-05 0 0.0006 0 0 0 0 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs377409410 rs377409410 1 1538 10 1/0 0,255,255 +rs71437572 2 37426833 G C - CEBPZ 24218 CCAAT/enhancer binding protein (C/EBP), zeta NM_005760.2 -1 3330 3165 NP_005751.2 Q03701 substitution downstream GRCh37 37426833 37426833 Chr2(GRCh37):g.37426833G>C *2074 *2074 NM_005760.2:c.*2074C>G p.? p.? 16 612828 2214 3' 83.6023 X.39 0.990534 XII.52 83.6023 X.39 0.990534 XII.52 0 rs71437572 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.002000 0.000000 0.009900 0.004300 0.005149 0.002106 0.002516 0.001561 0.000000 0.005042 0.009416 0.001193 0.004673 0.009416 892 32 61 13 0 113 627 24 22 173238 15196 24242 8326 11644 22412 66592 20118 4708 0.000046 0.000000 0.000000 0.000000 0.000000 0.000178 0.000060 0.000000 0.000000 4 0 0 0 0 2 2 0 0 884 32 61 13 0 109 623 24 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -1.570 255 PASS . 0.0046 0.01 . 0.01 . 0.003 0.0043 . 0.0099 0.002 . . . . . 0.43589744 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2157 . . . . . . . . 3.884e-03 . . . 0.0011 0.0045 0.0068 0 0 0.0048 0 0.0050 0.0024 0.0038 0.0089 0 0.0031 0.0016 0 0.0050 . . . . . . intronic intronic ncRNA_intronic . . . 0.0030 . . . 0.44 0.34 182 ENSG00000218739 LOC100505876 CEBPZOS . . . . . . 428 0.00658705 64976 414 0.00690161 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs71437572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0051 0.0025 0.0016 0 0.0011 0.0097 0.0046 0.0050 0.0026 0.0052 0.0024 0 0 0.0014 0.0083 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs71437572 rs71437572 rs71437572 1 1538 10 1/0 0,255,255 +rs71437572 2 37426833 G C - CEBPZOS 49288 CEBPZ opposite strand NM_001322373.1 1 3366 243 NP_001309302.1 A8MTT3 substitution intron GRCh37 37426833 37426833 Chr2(GRCh37):g.37426833G>C -15 -15 NM_001322373.1:c.-1-14G>C p.? p.? 3 2 -14 3' 76.5006 9.48843 0.779151 0 78.9103 8.59618 0.824044 0 -0.0016397 Cryptic Acceptor Weakly Activated 37426847 9.48843 0.779151 76.5006 8.59618 0.824044 78.9103 rs71437572 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.002000 0.000000 0.009900 0.004300 0.005149 0.002106 0.002516 0.001561 0.000000 0.005042 0.009416 0.001193 0.004673 0.009416 892 32 61 13 0 113 627 24 22 173238 15196 24242 8326 11644 22412 66592 20118 4708 0.000046 0.000000 0.000000 0.000000 0.000000 0.000178 0.000060 0.000000 0.000000 4 0 0 0 0 2 2 0 0 884 32 61 13 0 109 623 24 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -1.570 255 PASS . 0.0046 0.01 . 0.01 . 0.003 0.0043 . 0.0099 0.002 . . . . . 0.43589744 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2157 . . . . . . . . 3.884e-03 . . . 0.0011 0.0045 0.0068 0 0 0.0048 0 0.0050 0.0024 0.0038 0.0089 0 0.0031 0.0016 0 0.0050 . . . . . . intronic intronic ncRNA_intronic . . . 0.0030 . . . 0.44 0.34 182 ENSG00000218739 LOC100505876 CEBPZOS . . . . . . 428 0.00658705 64976 414 0.00690161 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs71437572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0051 0.0025 0.0016 0 0.0011 0.0097 0.0046 0.0050 0.0026 0.0052 0.0024 0 0 0.0014 0.0083 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs71437572 rs71437572 rs71437572 1 1538 10 1/0 0,255,255 +rs116096831 2 37505108 C T - PRKD3 9408 Protein kinase D3 NM_005813.4 -1 5903 2673 NP_005804.1 O94806 substitution synonymous exon GRCh37 37505108 37505108 Chr2(GRCh37):g.37505108C>T 1197 1197 NM_005813.4:c.1197G>A p.Pro399= p.Pro399Pro 8 607077 25 3' 73.831 5.44314 0.208409 0 73.831 5.44314 0.208409 0 0 rs116096831 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.003100 0.000000 0.005000 0.002900 0.005025 0.000502 0.001982 0.008911 0.000321 0.003542 0.006837 0.008199 0.004224 0.008911 1381 12 67 90 6 107 861 211 27 274810 23926 33804 10100 18716 30206 125930 25736 6392 0.000058 0.000000 0.000000 0.000000 0.000000 0.000132 0.000048 0.000233 0.000000 8 0 0 0 0 2 3 3 0 1365 12 67 90 6 103 855 205 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8554 4403 12957 46 3 49 0.00534884 0.00068089 0.00376749 0.00534884 0.00068089 0.00376749 168 transition G A G>A 0.236 -1.409 P Pro CCG 0.115 P Pro CCA 0.274 399 255 PASS . 0.0018 0.0028 . 0.004 . 0.002 0.0029 . 0.005 0.0031 . . PRKD3:NM_005813:exon8:c.G1197A:p.P399P . . 0.6447368 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 76.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P399|PRKD3|mRNA|CODING|NM_005813|NM_005813.ex.8) 0.0007 0.0038 0.0053 0.0007 0.0038 0.0053 . 0.6599 . . . . . . . . 5.335e-03 . . . 0.0003 0.0043 0.0011 0.0004 0.0074 0.0069 0.0042 0.0033 0.0002 0.0053 0.0012 0.0003 0.0082 0.0081 0.0029 0.0033 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0020 . . . 0.29 0.2 182 ENSG00000115825 PRKD3 PRKD3 . . . . . . 325 0.00500185 64976 315 0.00525123 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116096831 . . . . . . . . . . . . . . . . . . . . . . . 0.003767 . . . . . 0.0004 0.0051 0.0020 0.0089 0.0003 0.0081 0.0069 0.0042 0.0035 0.0007 0.0046 0.0024 0.0099 0.0006 0.0086 0.0063 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0053 . . rs116096831 rs116096831 1 1538 10 1/0 0,255,255 +rs770968296 2 43015720 G A - HAAO 4796 3-hydroxyanthranilate 3,4-dioxygenase NM_012205.2 -1 1284 861 NP_036337.2 P46952 substitution synonymous exon GRCh37 43015720 43015720 Chr2(GRCh37):g.43015720G>A 108 108 NM_012205.2:c.108C>T p.Phe36= p.Phe36Phe 2 604521 28 3' 88.1678 VI.39 0.857878 3.74003 88.1678 VI.39 0.857878 3.12758 0 3-hydroxyanthranilic acid dioxygenase 3-hydroxyanthranilate 3, 4-dioxygenase, metazoan rs770968296 no no 0 G 0.000000 0 0.000008 0.000000 0.000030 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000030 2 0 1 0 0 0 1 0 0 246266 15304 33582 9850 17248 30782 111714 22300 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 135 Exomes transition C T C>T 1.000 0.851 F Phe TTC 0.546 F Phe TTT 0.454 36 255 PASS . . . . . . . . . . . . . HAAO:NM_012205:exon2:c.C108T:p.F36F . . 0.4871795 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F36|HAAO|mRNA|CODING|NM_012205|NM_012205.ex.2) . . . . . . . 1.0863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000162882 HAAO HAAO . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs770968296 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv519877 . . . . . II.52 0 8.121e-06 2.978e-05 0 0 0 8.951e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +rs12712895 2 43905898 G C - PLEKHH2 30506 Pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 NM_172069.3 1 6954 4482 NP_742066.2 Q8IVE3 substitution intron GRCh37 43905898 43905898 Chr2(GRCh37):g.43905898G>C 124-104 124-104 NM_172069.3:c.124-104G>C p.? p.? 3 2 612723 -104 3' 81.6874 11.062 0.949229 6.68359 81.6874 11.062 0.949229 6.68359 0 Cryptic Donor Strongly Activated 43905900 0.020625 65.332 2.57415 0.038792 68.3867 rs12712895 no no 0 0.000000 0 0.000654 0.001853 0.000000 0.003425 0.000000 0.000000 0.000203 0.000000 0.000000 0.003425 20 16 0 1 0 0 3 0 0 30602 8634 832 292 1610 0 14788 3476 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 10 0 1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.72727275 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.3210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.08 182 ENSG00000152527 PLEKHH2 PLEKHH2 . . . . . . 10772 0.165784 64976 10754 0.179275 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12712895 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0007 0 0.0034 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs12712895 rs12712895 rs12712895 rs12712895 1 1538 10 1/0 0,255,255 +. 2 45233332 T G - SIX2 10888 SIX homeobox 2 NM_016932.4 -1 2154 876 NP_058628.3 Q9NPC8 substitution missense exon GRCh37 45233332 45233332 Chr2(GRCh37):g.45233332T>G 853 853 NM_016932.4:c.853A>C p.Asn285His p.Asn285His 2 604994 293 3' 84.3056 9.86232 0.434955 7.22209 84.3056 9.86232 0.434955 7.22209 0 Cryptic Acceptor Strongly Activated 45233334 2.72084 0.030389 66.497 3.36597 0.053863 66.497 transversion A C A>C 1.000 4.402 N Asn AAC 0.536 H His CAC 0.587 285 15 12 Tetraodon 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 213 PASS . . . . . . . . . . . ENSG00000170577:ENST00000303077:exon2:c.A853C:p.N285H SIX2:uc002ruo.3:exon2:c.A853C:p.N285H SIX2:NM_016932:exon2:c.A853C:p.N285H . . 0.19339623 . . @ 41 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.749 . @ . . . . . 1 0.596 . . 212.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N285H|SIX2|mRNA|CODING|NM_016932|NM_016932.ex.2) . . . . . . . 0.3003 0.388 0.300 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.884 . . exonic exonic exonic . . 0.622 @ . . . . . . ENSG00000170577 SIX2 SIX2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.819 0.136 . . 37 . 0.797 . . 0.837 . . . 0.498 0.548 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.515 . . 0.414 . . . . . . 0 0.721 . . . . . 0.667 . 0.406 . HET 0.02 . . . . . . . . . . . . . 14.4287 . ENST00000303077 IV.85 IV.85 . 0.000000 . . . Name\x3dnsv2711 . . 0.771 . . IV.85 . . . . . . . . . . . . . . . . . . . 0.396 . 1.804 1.804000 . . 0.000000 . . 1.0E-213 1.000 0.715 . 0.888 1.000 . 0.820 . 0.580 1.804 0.991 . . . . . 1 1538 10 1.I 0,0,0 +rs13001154 2 47279039 T C - TTC7A 19750 Tetratricopeptide repeat domain 7A NM_001288951.1 1 5230 2649 NP_001275880.1 substitution intron GRCh37 47279039 47279039 Chr2(GRCh37):g.47279039T>C 2224+20 2224+20 NM_001288951.1:c.2224+20T>C p.? p.? 19 19 609332 20 5' 87.1266 10.0978 0.982622 9.24664 87.1266 10.0978 0.982622 9.45843 0 rs13001154 yes no Frequency/1000G 2 T 0.000000 0 0.006390 0.000000 0.010200 0.000000 0.012900 0.013000 0.008464 0.002908 0.008134 0.004856 0.000000 0.011668 0.011745 0.002855 0.005548 0.011745 2138 63 263 46 0 334 1332 67 33 252592 21666 32334 9472 17664 28626 113414 23468 5948 0.000119 0.000092 0.000186 0.000000 0.000000 0.000419 0.000071 0.000085 0.000000 15 1 3 0 0 6 4 1 0 2108 61 257 46 0 322 1324 65 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.037 255 PASS . . . . . . 0.0064 0.013 . 0.013 0.01 . . . . . 0.3529412 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.0465 . . . . . . . . 7.783e-03 . . . 0.0032 0.0101 0.0064 0 0.0036 0.0132 0.0126 0.0136 0.0031 0.0105 0.0065 0 0.0037 0.0135 0.0118 0.0136 . . . . . . intronic intronic intronic . . . 0.0064 . . . 0.3 0.2 182 ENSG00000068724 TTC7A TTC7A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs13001154 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0087 0.0081 0.0050 0 0.0029 0.0119 0.0062 0.0117 0.0032 0.0066 0.0095 0 0 0.0029 0.0104 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs13001154 rs13001154 rs13001154 rs13001154 1 1538 10 1/0 0,255,255 +rs140166160 2 47287925 C A - TTC7A 19750 Tetratricopeptide repeat domain 7A NM_001288951.1 1 5230 2649 NP_001275880.1 substitution missense exon GRCh37 47287925 47287925 Chr2(GRCh37):g.47287925C>A 2242 2242 NM_001288951.1:c.2242C>A p.Gln748Lys p.Gln748Lys 20 609332 18 3' 89.7431 11.0944 0.940829 13.9523 89.7431 11.0944 0.940463 13.828 -0.000129673 rs140166160 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.003100 0.000000 0.004000 0.008600 0.004881 0.001748 0.003793 0.001205 0.000000 0.006606 0.007310 0.000896 0.002644 0.007310 1344 42 130 12 0 201 919 23 17 275370 24032 34276 9960 18864 30428 125722 25658 6430 0.000073 0.000083 0.000058 0.000000 0.000000 0.000329 0.000048 0.000000 0.000000 10 1 1 0 0 5 3 0 0 1324 40 128 12 0 191 913 23 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4398 12941 57 8 65 0.00662791 0.00181571 0.00499769 0.00662791 0.00181571 0.00499769 83 transversion C A C>A 0.992 1.658 Q Gln CAG 0.744 K Lys AAG 0.575 748 12 7 Chicken 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 0.6 3.VII 255 PASS . 0.0032 0.01 . 0.0026 . 0.0026 0.0086 . 0.004 0.0031 . . . . . 0.43209878 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.308 . @ . . . . . 1 0.218 . . 81.0 . . . 0.0018 0.005 0.0066 0.0018 0.005 0.0066 . 0.0386 0.214 0.039 c . . . . . 4.767e-03 . . . 0.0015 0.0045 0.0026 0 0.0016 0.0056 0.0045 0.0076 0.0017 0.0050 0.0026 0 0.0014 0.0066 0.0031 0.0076 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.739 . . exonic exonic exonic . . 0.910 0.0026 . . . 0.45 0.49 182 ENSG00000068724 TTC7A TTC7A . . . 1.000 0.747 . 473 0.00727961 64976 460 0.00766846 59986 Uncertain_significance . 0 . 0.265 . . . . T 0.391 0.017 . . 37 . 0.599 . . 0.630 . . . 0.351 0.278 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . 0.273 . . 0.318 . . . . . . 0 0.201 . . . . . 0.576 . 0.456 . HET 0.51 rs140166160 0.011 0.007 . . . . . 0.003205128205128205 0.0 0.013812154696132596 0.0 0.002638522427440633 XII.39 0.001873 . V.77 V.77 . 0.080000 . . . . 0.004998 . 0.403 . . V.77 0.0016 0.0050 0.0037 0.0012 0 0.0009 0.0075 0.0028 0.0066 0.0021 0.0039 0.0060 0 0 0.0009 0.0062 0.0020 . . 0.730 . 2.741 2.741000 . . 0.080000 . . 1.0E-255 0.999 0.424 . 0.490 0.989 . 0.318 . 0.490 2.741 0.871 0.011 . . rs140166160 rs140166160 1 1538 10 1/0 0,255,255 +rs146480420 2 47601029 G C - EPCAM 11529 Epithelial cell adhesion molecule NM_002354.2 1 1718 945 NP_002345.2 P16422 substitution missense exon GRCh37 47601029 47601029 Chr2(GRCh37):g.47601029G>C 267 267 NM_002354.2:c.267G>C p.Gln89His p.Gln89His 3 185535 83 3' 90.0547 6.99962 0.856049 3.03701 90.0547 6.99962 0.856049 3.03701 0 Thyroglobulin type-1 rs146480420 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.002702 0.001248 0.001947 0.001576 0.000000 0.000260 0.004625 0.001124 0.002011 0.004625 749 30 67 16 0 8 586 29 13 277220 24036 34420 10152 18864 30782 126710 25792 6464 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 739 30 67 16 0 8 576 29 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4400 12950 50 6 56 0.00581395 0.00136178 0.00430571 0.00581395 0.00136178 0.00430571 65 RCV000115770.2|RCV000123185.7 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|research|clinical testing Likely benign|Conflicting interpretations of pathogenicity 2|1 not specified|Lynch syndrome transversion G C G>C 0.984 0.286 Q Gln CAG 0.744 H His CAC 0.587 89 12 10 Chicken 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 96.32 XI.15 Tolerated 0.07 III.36 bad 4.851E-3 0.001158 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . EPCAM:uc002rvx.3:exon3:c.G267C:p.Q89H EPCAM:NM_002354:exon3:c.G267C:p.Q89H . . 0.57894737 . . germline 44 . . 1.2.2016 0 1 0 0 1 0 1 0 0 1 0 0 . . . . . . 0.389 . Likely//\@benign//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity Likely_benign|other RCV000115770.2|RCV000123185.6 not_specified|Lynch_syndrome MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C1333990:ORPHA144:315058005 1 0.688 . . 76.0 . . . 0.0014 0.0043 0.0058 0.0014 0.0043 0.0058 . 0.1512 0.063 0.151 c . . . . . 2.573e-03 . . . 0.0014 0.0024 0.0017 0 0.0005 0.0041 0 0.0003 0.0013 0.0024 0.0017 0 0.0005 0.0040 0.0014 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.643 . . exonic exonic exonic . . 0.212 0.0010 . . . 0.32 0.25 182 ENSG00000119888 EPCAM EPCAM . . . 1.000 0.747 . 231 0.00355516 64976 226 0.00376755 59986 Likely_benign . 0 . 0.351 . . . . D 0.673 0.058 . . 37 . 0.568 . . 0.649 . . . 0.601 0.354 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.518 . . 0 0 0 0 1 0 . 0.670 . . 0.639 . . . . . . 0 0.531 . . . . . 0.133 . 0.364 . HET 0.04 rs146480420 . . . . CLINSIG\x3dprobable-non-pathogenic|probable-non-pathogenic\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome|Lynch_syndrome\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000115770.2|RCV000123185.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT|GeneReviews:MedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009|NBK1211:C0009405:315058005 CLINSIG\x3dprobable-non-pathogenic|probable-non-pathogenic\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome|Lynch_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter|no_assertion_criteria_provided\x3bCLNACC\x3dRCV000115770.2|RCV000123185.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT|GeneReviews:MedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009|NBK1211:C0009405:315058005 . 0.0018315018315018315 0.0 0.0027624309392265192 0.0 0.00395778364116095 IV.43 0.001338 . 5.IV I.39 . 0.010000 . . . Name\x3dnsv520660 0.004306 . 0.445 . . . 0.0012 0.0027 0.0020 0.0015 0 0.0010 0.0046 0.0022 0.0003 0.0014 0.0028 0 0.0033 0 0.0017 0.0045 0.0010 . . 0.817 . 0.423 0.423000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.213 0.147 . 0.288 . 0.713 0.423 0.069 0.0058 . . rs146480420 rs146480420 1 1538 10 1/0 0,255,255 +rs148676301 2 48036749 C T - FBXO11 13590 F-box protein 11 NM_001190274.1 -1 4055 2784 NP_001177203.1 Q86XK2 substitution synonymous exon GRCh37 48036749 48036749 Chr2(GRCh37):g.48036749C>T 2436 2436 NM_001190274.1:c.2436G>A p.Val812= p.Val812Val 20 607871 -11 5' 89.5197 9.78772 0.988003 0 89.5197 9.78772 0.988003 0 0 Cryptic Donor Strongly Activated 48036752 0.002964 64.6911 3.18845 0.04428 69.0534 Parallel beta-helix repeat Carbohydrate-binding/sugar hydrolysis domain rs148676301 yes no Frequency 1 C 0.000000 0 0.000336 0.000042 0.000029 0.000000 0.000000 0.000000 0.000633 0.000392 0.000155 0.000633 93 1 1 0 0 0 80 10 1 276420 24026 34338 10134 18862 30712 126390 25514 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 1 1 0 0 0 80 10 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 94 transition G A G>A 1.000 0.367 V Val GTG 0.468 V Val GTA 0.114 812 255 PASS . . . . . . . . . . . . . . . . 0.53061223 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.24 . . . . . . . . 3.789e-04 . . . 0 0.0002 0 0 0.0005 0.0003 0 0 0 0.0004 0 0 0.0003 0.0007 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.68 0.21 182 ENSG00000138081 FBXO11 FBXO11 . . . . . . 11 0.000169293 64976 11 0.000183376 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . rs148676301 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . III.52 0 0.0003 2.985e-05 0 0 0.0005 0.0006 0.0002 0 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs148676301 rs148676301 1 1538 10 1/0 0,255,255 +. 2 60696091 G T - BCL11A 13221 B-cell CLL/lymphoma 11A (zinc finger protein) NM_022893.3 -1 5946 2508 NP_075044.2 Q9H165 substitution intron GRCh37 60696091 60696091 Chr2(GRCh37):g.60696091G>T 386-123 386-123 NM_022893.3:c.386-123C>A p.? p.? 3 2 606557 -123 3' 88.8425 10.0314 0.967124 8.49058 88.8425 10.0314 0.967124 8.49058 0 transversion C A C>A 0.992 1.739 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . I.10 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000119866 BCL11A BCL11A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834204 . . . . . IV.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201775897 2 64863011 A C - SERTAD2 30784 SERTA domain containing 2 NM_014755.2 -1 5548 945 NP_055570.1 Q14140 substitution 3'UTR GRCh37 64863011 64863011 Chr2(GRCh37):g.64863011A>C *50 *50 NM_014755.2:c.*50T>G p.? p.? 2 617851 999 3' 84.2061 XII.71 0.991783 XII.81 84.2061 XII.71 0.991783 XII.81 0 rs201775897 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000042 0.000000 0.000173 0.000042 6 0 0 0 0 0 5 0 1 255630 23614 29774 7818 17802 27798 118608 24448 5768 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.198 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.55737704 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . UTR_3_PRIME(MODIFIER||||SERTAD2|mRNA|CODING|NM_014755|NM_014755.ex.2) . . . . . . . 0.4352 . . . . . . . . 1.580e-05 . . . 0 2.287e-05 0 0 0 4.853e-05 0 0 0 1.946e-05 0 0 0 3.747e-05 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.64 0.56 182 ENSG00000179833 SERTAD2 SERTAD2 ENST00000313349:c.*50T>G uc002sde.2:c.*50T>G NM_014755:c.*50T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201775897 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7313 . . . . . . 0 2.226e-05 0 0 0 0 3.861e-05 0.0002 0 0 3.228e-05 0 0 0 0 6.66e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs201775897 rs201775897 1 1538 10 1/0 0,255,255 +. 2 65217233 C T - SLC1A4 10942 Solute carrier family 1 member 4 NM_003038.4 1 4601 1599 NP_003029.2 P43007 substitution synonymous exon GRCh37 65217233 65217233 Chr2(GRCh37):g.65217233C>T 456 456 NM_003038.4:c.456C>T p.Asp152= p.Asp152Asp 1 600229 -72 5' 81.9751 8.87834 0.92937 VIII.96 81.9751 8.87834 0.92937 8.43483 0 Sodium transition C T C>T 1.000 3.434 D Asp GAC 0.539 D Asp GAT 0.461 152 255 PASS . . . . . . . . . . . ENSG00000115902:ENST00000234256:exon1:c.C456T:p.D152D SLC1A4:uc010yqa.2:exon1:c.C456T:p.D152D SLC1A4:NM_003038:exon1:c.C456T:p.D152D . . 0.44642857 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . II.25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000115902 SLC1A4 SLC1A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +rs147962002 2 68717350 A T - APLF 28724 Aprataxin and PNKP like factor NM_173545.2 1 3849 1536 NP_775816.1 Q8IW19 substitution missense exon GRCh37 68717350 68717350 Chr2(GRCh37):g.68717350A>T 125 125 NM_173545.2:c.125A>T p.His42Leu p.His42Leu 2 611035 29 3' 86.9667 6.98459 0.978691 8.64506 86.9667 6.98459 0.978691 8.24043 0 rs147962002 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.001500 0.000000 0.000000 0.001000 0.001400 0.000997 0.000208 0.000531 0.000197 0.000000 0.000886 0.001645 0.000117 0.001868 0.001645 275 5 18 2 0 27 208 3 12 275766 23998 33930 10130 18744 30476 126412 25652 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 275 5 18 2 0 27 208 3 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4404 12988 16 2 18 0.00186047 0.000453926 0.00138398 0.00186047 0.000453926 0.00138398 86 transversion A T A>T 1.000 2.869 H His CAT 0.413 L Leu CTT 0.129 42 12 11 Tetraodon -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 C35 32.40 91.85 Deleterious 0.01 3.I bad 4.375E-5 0.001905 255 PASS 0.002 0.0009 . . 0.0013 0.0015 0.0008 0.0014 . 0.001 . . APLF:uc002sep.3:exon2:c.A125T:p.H42L APLF:NM_173545:exon2:c.A125T:p.H42L . . 0.38235295 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.595 . @ . . . . . 1 0.328 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cTt|H42L|APLF|mRNA|CODING|NM_173545|NM_173545.ex.2) 0.0005 0.0014 0.0019 0.0005 0.0014 0.0019 . 0.7906 0.760 0.791 c . . . . . 1.058e-03 . . . 0.0005 0.0010 0.0004 0 0 0.0016 0 0.0009 0.0006 0.0011 0.0004 0 0 0.0017 0.0015 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.544 . . exonic exonic exonic . . 0.959 0.0008 . . . 0.39 0.4 182 ENSG00000169621 APLF APLF . . . 0.891 0.258 . 52 0.000800296 64976 48 0.000800187 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.379 0.016 . . 37 . 0.725 . . 0.767 . . . 0.812 0.463 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.963 . . 0 0 0 0 0 0 . 0.764 . . 0.850 . . . . . . 0 0.912 . . . . . 0.566 . 0.930 . HET 0 rs147962002 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0 0.0 0.0013192612137203166 XII.16 5.35E-4 ENST00000303795 V.93 V.93 . 0.000000 Q8IW19 . . . 0.001384 . 0.513 . . V.93 0.0003 0.0011 0.0005 0.0002 0 0.0001 0.0018 0.0020 0.0009 0.0001 0.0004 0 0 0 0 0.0007 0.0010 . . 0.428 . 2.271 2.271000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.609 . 0.960 2.271 1.062 0.002 . . rs147962002 rs147962002 1 1538 10 1/0 0,255,255 +rs200898537 2 68755680 G A - APLF 28724 Aprataxin and PNKP like factor NM_173545.2 1 3849 1536 NP_775816.1 Q8IW19 substitution intron GRCh37 68755680 68755680 Chr2(GRCh37):g.68755680G>A 804+2306 804+2306 NM_173545.2:c.804+2306G>A p.? p.? 6 6 611035 2306 5' 82.9382 5.88335 0.373097 0 82.9382 5.88335 0.373097 0 0 rs200898537 yes no Frequency 1 G 0.000000 0 0.000826 0.002278 0.000000 0.000000 0.003676 0.000000 0.000136 0.000000 0.000000 0.003676 24 17 0 0 5 0 2 0 0 29040 7462 822 290 1360 0 14672 3474 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 17 0 0 5 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition G A G>A 0.173 0.286 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||APLF|mRNA|CODING|NM_173545|) . . . . . . . -0.2698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.27 0.18 182 ENSG00000214525 APLF APLF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200898537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0008 0 0 0.0037 0 0.0001 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs200898537 rs200898537 1 1538 10 1/0 0,247,255 +rs201082060 2 68755880 G C - APLF 28724 Aprataxin and PNKP like factor NM_173545.2 1 3849 1536 NP_775816.1 Q8IW19 substitution intron GRCh37 68755880 68755880 Chr2(GRCh37):g.68755880G>C 804+2506 804+2506 NM_173545.2:c.804+2506G>C p.? p.? 6 6 611035 2506 5' 82.9382 5.88335 0.373097 0 82.9382 5.88335 0.373097 0 0 rs201082060 yes no Frequency 1 G 0.000000 0 0.004117 0.012482 0.000000 0.000000 0.013491 0.000000 0.000763 0.000291 0.001064 0.013491 115 86 0 0 16 0 11 1 1 27934 6890 798 268 1186 0 14412 3440 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 86 0 0 16 0 11 1 1 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion G C G>C 0.083 -1.167 209 PASS . . . . . . . . . . . . . . . . 0.18320611 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . INTRON(MODIFIER||||APLF|mRNA|CODING|NM_173545|) . . . . . . . -0.4891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.29 0.21 182 ENSG00000214525 APLF APLF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201082060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0125 0.0041 0 0 0.0135 0.0003 0.0008 0.0011 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs4514045 rs4514045 rs4514045 rs201082060 1 1538 10 1/0 0,222,255 +rs779443682 2 73491618 G A - FBXO41 29409 F-box protein 41 NM_001080410.2 -1 6928 2628 NP_001073879.2 Q8TF61 substitution missense exon GRCh37 73491618 73491618 Chr2(GRCh37):g.73491618G>A 1594 1594 NM_001080410.2:c.1594C>T p.Arg532Trp p.Arg532Trp 5 609108 30 3' 81.5582 V.71 0.790775 7.22138 81.5582 V.71 0.790775 6.81952 0 rs779443682 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000058 0.000000 0.000053 0.000000 0.000048 0.000000 0.000000 0.000058 9 0 2 0 1 0 6 0 0 275186 23974 34412 10120 18846 30776 124838 25788 6432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 2 0 1 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM84599 Pancreas 0.000566 1766 transition C T C>T 1.000 2.546 R Arg CGG 0.207 W Trp TGG 1.000 532 16 10 Opossum -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.04 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . FBXO41:uc021vjh.1:exon5:c.C1594T:p.R532W FBXO41:NM_001080410:exon5:c.C1594T:p.R532W . . 0.5531915 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.718 . @ . . . . . 1 0.983 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R532W|FBXO41|mRNA|CODING|NM_001080410|NM_001080410.ex.5) . . . . . . . 0.3149 0.305 0.315 c . . . . . 2.396e-05 . . . 0 2.246e-05 8.684e-05 0 0 2.418e-05 0 0 0 2.852e-05 8.943e-05 0 0 3.698e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.517 @ . . . 0.4 0.34 182 ENSG00000163013 FBXO41 FBXO41 . . . 1.000 0.467 . . . . . . . Uncertain_significance . 0 . 0.166 . . . . T 0.396 0.018 . . 37 . 0.527 . . 0.549 . . . 0.315 0.415 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.324 . . 0 0 0 0 0 0 . 0.764 . . 0.563 . . . . . . 0 0.419 . . . . . 0.432 . 0.536 . HET 0.01 rs779443682 . . . . . . ID\x3dCOSM84599\x3bOCCURENCE\x3d1(pancreas) . . . . . 10.397 . . V.26 IV.37 . 0.010000 Q8TF61 . . . . . 0.712 . . IV.37 0 3.275e-05 5.957e-05 0 5.806e-05 0 4.551e-05 0 0 0 3.234e-05 0 0 0 0 6.676e-05 0 . . 0.522 . 1.409 1.409000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.365 0.399 . 0.512 . 0.658 1.409 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 2 73900002 C T - ALMS1P1 29586 ALMS1, centrosome and basal body associated protein pseudogene 1 NR_003683.2 1 1597 0 substitution exon GRCh37 73900002 73900002 Chr2(GRCh37):g.73900002C>T 562 562 NR_003683.2:n.562C>T 4 68 3' 85.4088 5.32143 0.118891 5.08946 85.4088 5.32143 0.118891 4.60077 0 transition C T C>T 0.000 -0.279 255 PASS . . . . . . . . . . . . ALMS1P:uc010yrl.2:exon4:c.C41T:p.T14I . . . 0.47686833 . . @ 134 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 281.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L188F|ALMS1P1|Non-coding_transcript|NON_CODING|NR_003683|NR_003683.ex.4) . . . . . . . -0.3796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000163016 ALMS1P ALMS1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,222 +rs116094901 2 73928414 G A - NAT8B 30235 N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) NM_016347.2 -1 832 684 NP_057431.2 Q9UHF3 substitution missense exon GRCh37 73928414 73928414 Chr2(GRCh37):g.73928414G>A 19 19 NM_016347.2:c.19C>T p.Arg7Cys p.Arg7Cys 1 608190 rs116094901 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000800 0.004100 0.005000 0.009900 0.007200 0.004022 0.001103 0.002205 0.006495 0.007555 0.004121 0.005087 0.000287 0.005068 0.007555 1031 26 72 51 141 107 597 7 30 256324 23564 32646 7852 18664 25964 117360 24354 5920 0.000039 0.000000 0.000000 0.000000 0.000000 0.000077 0.000068 0.000000 0.000000 5 0 0 0 0 1 4 0 0 1021 26 72 51 141 105 589 7 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8519 4309 12828 53 9 62 0.00618292 0.0020843 0.00480993 0.00618292 0.0020843 0.00480993 62 transition C T C>T 1.000 2.062 R Arg CGC 0.190 C Cys TGC 0.552 7 15 13 Opossum -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 III.18 bad 1.259E-5 5.461E-5 255 PASS . 0.01 0.01 0.0035 0.01 0.0008 0.005 0.0072 0.005 0.0099 0.0041 . NAT8B:uc002sjk.1:exon1:c.C19T:p.R7C UNKNOWN . . 0.33974358 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 156.0 . . . 0.0021 0.0048 0.0062 0.0021 0.0048 0.0062 . 1.1646 . . . . . . . . 3.940e-03 . . . 0.0010 0.0048 0.0030 0.0089 0.0008 0.0061 0 0.0051 0.0010 0.0039 0.0028 0.0059 0.0006 0.0045 0 0.0051 . nonsynonymous_SNV unknown . . . ncRNA_exonic exonic exonic . . . 0.0050 . . . 0.41 0.39 182 ENSG00000204872 NAT8B NAT8B . . . . . . 251 0.00386296 64976 226 0.00376755 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116094901 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004810 . . . . III.29 0.0010 0.0041 0.0023 0.0065 0.0072 0.0003 0.0052 0.0053 0.0041 0.0013 0.0033 0 0.0066 0.0111 0 0.0045 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs116094901 rs116094901 1 1538 10 1/0 0,230,255 +rs79144580 2 74273383 T C - TET3 28313 Tet methylcytosine dioxygenase 3 NM_001287491.1 1 11388 5388 NP_001274420.1 substitution intron GRCh37 74273383 74273383 Chr2(GRCh37):g.74273383T>C 361-22 361-22 NM_001287491.1:c.361-22T>C p.? p.? 3 2 613555 -22 3' 81.4718 12.374 0.998029 XII.93 81.4718 12.374 0.998029 XII.62 0 rs79144580 yes no Frequency 1 T 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000000 0.000043 0.000000 0.000000 0.000043 4 0 0 0 0 0 4 0 0 189210 22032 17588 3266 15386 13196 92642 21012 4088 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.117 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||TET3|mRNA|CODING|NM_001287491|) . . . . . . . 0.1595 . . . . . . . . 1.724e-05 . . . 0 2.788e-05 0 0 0 2.888e-05 0 0.0001 0 2.291e-05 0 0 0 2.115e-05 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.13 182 ENSG00000187605 TET3 TET3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs79144580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.894e-05 0 0 0 0 3.861e-05 0 0 0 3.241e-05 0 0 0 0 6.695e-05 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs79144580 rs79144580 1 1538 10 1/0 0,255,255 +. 2 79253987 ATAGGGGAAAGTCCATG A - REG3G 29595 Regenerating islet-derived 3 gamma NM_001008387.2 1 955 528 NP_001008388.1 Q6UW15 deletion intron GRCh37 79253988 79254003 Chr2(GRCh37):g.79253988_79254003del 195+31 195+46 NM_001008387.2:c.195+31_195+46del p.? p.? 3 3 609933 31 5' 79.968 7.76791 0.86395 4.42254 79.968 7.76791 0.86395 4.91787 0 Cryptic Donor Strongly Activated 79253983 3.12578 0.070611 74.8613 III.22 0.082311 74.5581 rs775263626 yes no Frequency 1 0.000000 0 0.000047 0.000000 0.000000 0.000000 0.000000 0.000000 0.000098 0.000000 0.000000 0.000098 10 0 0 0 0 0 10 0 0 212686 16958 26270 7318 14474 19936 102470 20348 4912 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 2 0 0 0 0 0 2 0 0 6 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6557 2862 9419 608 498 1106 0.0848569 0.148214 0.105083 0.0848569 0.148214 0.105083 63 TAGGGGAAAGTCCATG 255 Pass . . . . . . . . . . . . . . . . 0.16470589 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 85 . . . . . . 0.12 0.088 0.074 . . . . . . . . . . 6.401e-05 . . . 0 6.998e-05 0 0 0 0.0001 0 0 0 2.367e-05 0 0 0 4.35e-05 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000143954 REG3G REG3G . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs775263626 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522260 . . . . . . 0 3.676e-05 0 0 0 0 7.696e-05 0 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,78 +rs762770594 2 79254005 A C - REG3G 29595 Regenerating islet-derived 3 gamma NM_001008387.2 1 955 528 NP_001008388.1 Q6UW15 substitution intron GRCh37 79254005 79254005 Chr2(GRCh37):g.79254005A>C 195+48 195+48 NM_001008387.2:c.195+48A>C p.? p.? 3 3 609933 48 5' 79.968 7.76791 0.86395 4.42254 79.968 7.76791 0.86395 4.22362 0 Cryptic Acceptor Strongly Activated 79254014 0.015184 3.50089 0.079242 75.4975 rs762770594 yes no Frequency 1 A 0.000000 0 transversion A C A>C 0.000 -1.974 201 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . -0.3889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000143954 REG3G REG3G . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +. 2 84915584 C G - DNAH6 2951 Dynein, axonemal, heavy chain 6 NM_001370.1 1 12795 12477 NP_001361.1 Q9C0G6 substitution missense exon GRCh37 84915584 84915584 Chr2(GRCh37):g.84915584C>G 7159 7159 NM_001370.1:c.7159C>G p.Arg2387Gly p.Arg2387Gly 45 603336 22 3' 66.381 6.51321 0.674799 I.37 66.381 6.51321 0.674799 0 0 transversion C G C>G 1.000 2.223 R Arg CGG 0.207 G Gly GGG 0.250 2387 18 15 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0.01 III.44 bad 2.958E-5 6.953E-5 255 PASS . . . . . . . . . . . . . DNAH6:NM_001370:exon45:c.C7159G:p.R2387G . . 0.3888889 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.909 . @ . . . . . 1 0.914 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R2387G|DNAH6|mRNA|CODING|NM_001370|NM_001370.ex.45) . . . . . . . 0.6977 0.645 0.698 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.276 . . exonic exonic exonic . . 0.620 @ . . . . . . ENSG00000115423 DNAH6 DNAH6 . . . 0.549 0.213 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.828 0.145 . . 37 . 0.650 . . 0.720 . . . 0.895 0.393 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.912 . . 0 0 0 0 0 0 . 0.764 . . 0.710 . . . . . . 0 0.721 . . . . . 0.563 . 0.756 . HET 0 . . . . . . . . . . . . . XII.89 . . V.73 IV.84 . 0.000000 . . . . . . 0.658 . . IV.84 . . . . . . . . . . . . . . . . . . . 0.133 . 1.385 1.385000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.337 0.325 . 0.594 . 0.383 1.385 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs140658686 2 85133318 C G - TMSB10 11879 Thymosin beta 10 NM_021103.3 1 482 135 NP_066926.1 P63313 substitution intron GRCh37 85133318 85133318 Chr2(GRCh37):g.85133318C>G 100+77 100+77 NM_021103.3:c.100+77C>G p.? p.? 2 2 188399 77 5' 74.2342 7.35828 0.901109 9.14957 74.2342 7.35828 0.901109 8.66135 0 rs140658686 yes no Frequency 1 C 0.000000 0 0.000680 0.000459 0.003589 0.000000 0.000000 0.000000 0.000937 0.000000 0.000000 0.003589 21 4 3 0 0 0 14 0 0 30874 8712 836 300 1622 0 14948 3482 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 4 3 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion C G C>G 0.031 0.609 255 PASS . . . . . . . . . . . . . . . . 0.39784947 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||TMSB10|mRNA|CODING|NM_021103|) . . . . . . . I.05 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.3 182 ENSG00000034510 TMSB10 TMSB10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140658686 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv4201n71 . . . . . . . . . . . . . . . 0.0005 0.0007 0.0036 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs140658686 rs140658686 1 1538 10 1/0 0,255,255 +rs34197986 2 85895072 T A - SFTPB 10801 Surfactant protein B NM_198843.2 -1 2840 1182 NP_942140.2 substitution intron GRCh37 85895072 85895072 Chr2(GRCh37):g.85895072T>A 104-143 104-143 NM_198843.2:c.104-143A>T p.? p.? 3 2 178640 -143 3' 64.0669 3.73847 0.003997 1.03462 64.0669 3.73847 0.003997 1.03462 0 rs34197986 yes no Frequency 1 T 0.000000 0 0.000711 0.000000 0.000000 0.003311 0.000000 0.000000 0.001400 0.000000 0.000000 0.003311 22 0 0 1 0 0 21 0 0 30964 8730 838 302 1620 0 15000 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 1 0 0 21 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transversion A T A>T 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.0616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.28 182 ENSG00000168878 SFTPB SFTPB . . . . . . 17 0.000261635 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34197986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.56 . . . . . . . . . 0 0.0007 0 0.0033 0 0 0.0014 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34197986 rs34197986 rs34197986 rs34197986 1 1538 10 1/0 0,255,255 +rs34973238 2 85895076 C T - SFTPB 10801 Surfactant protein B NM_198843.2 -1 2840 1182 NP_942140.2 substitution intron GRCh37 85895076 85895076 Chr2(GRCh37):g.85895076C>T 104-147 104-147 NM_198843.2:c.104-147G>A p.? p.? 3 2 178640 -147 3' 64.0669 3.73847 0.003997 1.03462 64.0669 3.73847 0.003997 1.03462 0 rs34973238 yes no Frequency 1 C 0.000000 0 0.000710 0.000000 0.000000 0.003311 0.000000 0.000000 0.001400 0.000000 0.000000 0.003311 22 0 0 1 0 0 21 0 0 30966 8730 838 302 1620 0 15000 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 1 0 0 21 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . 0.0401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.17 0.27 182 ENSG00000168878 SFTPB SFTPB . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34973238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0 0.0033 0 0 0.0014 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34973238 rs34973238 rs34973238 rs34973238 1 1538 10 1/0 0,255,255 +rs199606560 2 86271391 C T - POLR1A 17264 RNA polymerase I subunit A NM_015425.5 -1 12749 5163 NP_056240.2 O95602 substitution synonymous exon GRCh37 86271391 86271391 Chr2(GRCh37):g.86271391C>T 3006 3006 NM_015425.5:c.3006G>A p.Gln1002= p.Gln1002Gln 22 616404 37 3' 89.2964 8.23038 0.494974 4.18938 89.2964 8.23038 0.494974 4.23676 0 RNA polymerase Rpb1, domain 5 rs199606560 yes no Frequency/1000G 2 C 0.000000 0 0.009185 0.000000 0.046000 0.000000 0.000000 0.001400 0.007161 0.000583 0.001424 0.013593 0.000106 0.035865 0.004504 0.002636 0.006041 0.035865 1984 14 49 138 2 1104 570 68 39 277052 24022 34418 10152 18864 30782 126566 25792 6456 0.000245 0.000000 0.000058 0.000197 0.000000 0.001884 0.000032 0.000078 0.000000 34 0 1 1 0 29 2 1 0 1916 14 47 136 2 1046 566 66 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8461 4271 12732 29 1 30 0.00341578 0.000234082 0.00235073 0.00341578 0.000234082 0.00235073 105 transition G A G>A 1.000 2.950 Q Gln CAG 0.744 Q Gln CAA 0.256 1002 255 PASS . 0.0014 0.01 . 0.0013 . 0.0092 0.0014 . . 0.046 . . POLR1A:NM_015425:exon22:c.G3006A:p.Q1002Q . . 0.41916168 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 167.0 . . SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q1002|POLR1A|mRNA|CODING|NM_015425|NM_015425.ex.22) 0.0002 0.0024 0.0034 0.0002 0.0024 0.0034 . I.74 . . . . . . . . 7.982e-03 . . . 0.0004 0.0095 0.0020 0 0.0008 0.0054 0.0156 0.0356 0.0004 0.0085 0.0020 0 0.0017 0.0049 0.0203 0.0356 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0092 . . . 0.4 0.21 182 ENSG00000068654 POLR1A POLR1A . . . . . . 234 0.00360133 64976 188 0.00313406 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199606560 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3desv2751903 0.002351 . . . . IV.82 0.0005 0.0077 0.0014 0.0138 0.0001 0.0028 0.0045 0.0058 0.0359 0.0007 0.0030 0.0012 0.0066 0 0.0014 0.0049 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs199606560 rs199606560 1 1538 10 1/0 0,233,255 +rs199878581 2 87069463 T A - CD8B 1707 CD8b molecule NM_172213.3 -1 1061 732 NP_757362.1 substitution intron GRCh37 87069463 87069463 Chr2(GRCh37):g.87069463T>A 620+2582 620+2582 NM_172213.3:c.620+2582A>T p.? p.? 5 5 186730 2582 5' 78.6431 9.49083 0.990005 9.61906 78.6431 9.49083 0.990005 9.61906 0 rs199878581 yes no Frequency/1000G 2 T 0.000000 0 transversion A T A>T 0.024 0.044 209 PASS 0.002 0.02 0.03 . 0.04 . . . . . . . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . 0.5087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.4 182 ENSG00000172116 . CD8B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs199878581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . 0.04 . . rs199878581 rs199878581 1 1538 10 1/0 0,255,255 +rs62148300 2 87209821 C A - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution intron GRCh37 87209821 87209821 Chr2(GRCh37):g.87209821C>A 2557+1498 2557+1498 NM_001024457.3:c.2557+1498C>A p.? p.? 18 18 612704 1498 5' 89.8591 9.60237 0.940649 VI.05 89.8591 9.60237 0.940649 VI.05 0 rs62148300 no no 0 0.000000 0 transversion C A C>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.4347826 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.1926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.41 182 ENSG00000187627 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62148300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs56387632 rs56387632 rs56387632 rs56387632 1 1538 10 1/0 0,255,255 +. 2 87212716 A G - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution synonymous exon GRCh37 87212716 87212716 Chr2(GRCh37):g.87212716A>G 2670 2670 NM_001024457.3:c.2670A>G p.Glu890= p.Glu890Glu 20 612704 18 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.951648 6.09478 0.00961215 transition A G A>G 0.984 -0.279 E Glu GAA 0.417 E Glu GAG 0.583 890 255 PASS . . . . . . . . . . . . . . . . 0.5294118 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.4022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.55 182 ENSG00000187627 RGPD1 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80197863 rs80197863 1 1538 10 1/0 0,255,255 +rs62148321 2 87212781 C T - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution missense exon GRCh37 87212781 87212781 Chr2(GRCh37):g.87212781C>T 2735 2735 NM_001024457.3:c.2735C>T p.Ser912Leu p.Ser912Leu 20 612704 83 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 Cryptic Acceptor Weakly Activated 87212790 4.69439 0.000653 76.2702 IV.43 0.000935 78.9821 rs62148321 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 910 2 240 50 140 92 352 4 30 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 242 Exomes transition C T C>T 0.772 0.125 S Ser TCG 0.056 L Leu TTG 0.127 912 13 4 Frog -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Tolerated 0.44 III.69 good 4.014E-1 0.06043 229 PASS . . . . . . . . . . . . . . . . 0.23846154 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.242 . @ . . . . . 1 0.184 . . 130.0 . . . . . . . . . . -0.6253 -0.595 -0.625 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.407 . . exonic exonic exonic . . 0.195 @ . . . 0.48 0.59 182 ENSG00000187627 RGPD1 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.250 0.009 . . 37 . 0.193 . . 0.044 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.437 . . 0 0 0 0 0 0 . 0.385 . . 0.255 . . . . . . 0 0.363 . . . . . 0.220 . 0.109 . HET 0.02 rs62148321 . . . . . . . . . . . . VI.95 . . II.35 1.XI . 0.010000 . . . . . . 0.329 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.428 . 0.148 0.148000 . . 0.010000 . . 1.0E-229 0.999 0.424 . 0.189 0.350 . 0.366 . 0.002 0.148 -1.409 . rs3207980 rs3207980 rs3207980 rs3207980 1 1538 10 1/0 0,227,255 +. 2 87212868 A G - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution missense exon GRCh37 87212868 87212868 Chr2(GRCh37):g.87212868A>G 2822 2822 NM_001024457.3:c.2822A>G p.Asn941Ser p.Asn941Ser 20 612704 170 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 transition A G A>G 0.307 1.255 N Asn AAT 0.464 S Ser AGT 0.149 941 13 7 Rabbit 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.12 III.69 good 1.487E-2 0.0004216 186 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.057 . . 168.0 . . . . . . . . . . -0.7440 -0.743 -0.744 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.389 . . exonic exonic exonic . . 0.182 @ . . . 0.56 0.62 182 ENSG00000187627 RGPD1 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.138 0.005 . . 37 . 0.277 . . 0.248 . . . 0.372 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.379 . . 0 0 0 0 0 0 . 0.248 . . 0.210 . . . . . . 0 0.057 . . . . . 0.205 . 0.004 . LowAF 0.15 . . . . . . . . . . . . . VI.66 . . 2.III 0.885 . 0.750000 . . . . . . 0.469 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 1.068 1.068000 . . 0.750000 . . 1.0E-186 0.566 0.272 . 0.486 0.902 . 0.270 . 0.321 1.068 0.020 . rs7562548 rs7562548 rs7562548 rs7562548 1 1538 10 1/0 0,206,255 +rs772456874 2 87213376 A G - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution synonymous exon GRCh37 87213376 87213376 Chr2(GRCh37):g.87213376A>G 3330 3330 NM_001024457.3:c.3330A>G p.Ser1110= p.Ser1110Ser 20 612704 678 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 Cryptic Acceptor Strongly Activated 87213382 0.007844 3.0528 0.010401 65.1935 Ran binding protein 1 rs772456874 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.984 -0.360 S Ser TCA 0.148 S Ser TCG 0.056 1110 230 PASS . . . . . . . . . . . . . . . . 0.24257426 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 202.0 . . . . . . . . . . 0.1905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000187627 RGPD1 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs772456874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +. 2 87239599 A ATT - PLGLB1 9072 Plasminogen-like B1 NM_001032392.2 -1 3011 291 NP_001027564.1 Q02325 duplication 3'UTR GRCh37 87239599 87239600 Chr2(GRCh37):g.87239600_87239601dup *643 *644 NM_001032392.2:c.*643_*644dup p.? p.? 4 173340 643 3' 79.3221 VII.44 0.25903 5.15741 79.3221 VII.44 0.25903 5.15741 0 AA 255 Pass . . . . . . . . . . . . . . . . 0.20289855 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000183281 PLGLB2 . ENST00000355705:c.*644_*645insAA uc002ssd.3:c.*644_*645insAA NM_001032392:c.*644_*645insAA\x3bNM_002665:c.*644_*645insAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,69 +. 2 87239599 A ATT - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 duplication intron GRCh37 87239610 87239611 Chr2(GRCh37):g.87239609_87239610dup 5213-27 5213-26 NM_001024457.3:c.5213-27_5213-26dup p.? p.? 23 22 612704 -25 3' 86.5186 9.35637 0.965526 6.15954 86.5186 9.35637 0.965526 6.31691 0 TT 255 Pass . . . . . . . . . . . . . . . . 0.20289855 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000183281 PLGLB2 . ENST00000355705:c.*644_*645insAA uc002ssd.3:c.*644_*645insAA NM_001032392:c.*644_*645insAA\x3bNM_002665:c.*644_*645insAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,69 +rs62148336 2 87239696 C A - PLGLB1 9072 Plasminogen-like B1 NM_001032392.2 -1 3011 291 NP_001027564.1 Q02325 substitution 3'UTR GRCh37 87239696 87239696 Chr2(GRCh37):g.87239696C>A *548 *548 NM_001032392.2:c.*548G>T p.? p.? 4 173340 547 3' 79.3221 VII.44 0.25903 5.15741 79.3221 VII.44 0.25903 5.15741 0 Cryptic Acceptor Strongly Activated 87239687 0.816224 0.044674 73.8252 3.17434 0.373574 79.2779 rs62148336 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 10 0 0 8 8 2 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G T G>T 0.004 -0.279 243 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.3581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.44 0.69 182 . . . . . NM_001032392:c.*548G>T\x3bNM_002665:c.*548G>T\x3bNM_001024457:c.*26C>A\x3bNM_001078170:c.*26C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62148336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 0 0 . 0 . . . 0 . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . rs1049638 rs1049638 rs1049638 rs1049638 1 1538 10 1/0 0,255,255 +rs62148336 2 87239696 C A - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution 3'UTR GRCh37 87239696 87239696 Chr2(GRCh37):g.87239696C>A *26 *26 NM_001024457.3:c.*26C>A p.? p.? 23 612704 61 3' 86.5186 9.35637 0.965526 6.15954 86.5186 9.35637 0.965526 6.45682 0 Cryptic Donor Strongly Activated 87239692 0.0043 58.0097 0.775323 0.050936 68.795 rs62148336 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 10 0 0 8 8 2 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.004 -0.279 243 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.3581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.44 0.69 182 . . . . . NM_001032392:c.*548G>T\x3bNM_002665:c.*548G>T\x3bNM_001024457:c.*26C>A\x3bNM_001078170:c.*26C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62148336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 0 0 . 0 . . . 0 . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . rs1049638 rs1049638 rs1049638 rs1049638 1 1538 10 1/0 0,255,255 +. (chr2:87258051 ACAAT/A) 2 87258051 ACAAT A Not on a known gene +rs2612889 (chr2:87355854 A/G) 2 87355854 A G Not on a known gene +rs2010034 (chr2:87390066 C/T) 2 87390066 C T Not on a known gene +. (chr2:88013790 C/G) 2 88013790 C G Not on a known gene +. (chr2:88032147 G/A) 2 88032147 G A Not on a known gene +. 2 88083189 T C - RGPD2 32415 RANBP2-like and GRIP domain containing 2 NM_001078170.2 -1 5503 5271 NP_001071638.2 substitution synonymous exon GRCh37 88083189 88083189 Chr2(GRCh37):g.88083189T>C 3354 3354 NM_001078170.2:c.3354A>G p.Ser1118= p.Ser1118Ser 20 612705 678 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 Cryptic Acceptor Strongly Activated 88083183 0.007844 3.0528 0.010401 65.1935 Ran binding protein 1 0.005359 0.018519 0.004476 0.000000 0.001730 0.008491 0.000000 0.000000 0.000000 0.018519 23 6 7 0 1 9 0 0 0 4292 324 1564 24 578 1060 542 40 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 6 7 0 1 9 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5427887 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.984 -0.360 S Ser TCA 0.148 S Ser TCG 0.056 1118 242 PASS . . . . . . . . . . . . . . . . 0.27860695 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 201.0 . . . . . . . . . . 0.2478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185304 RGPD1 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0185 0.0054 0.0045 0 0.0017 0 0 0 0.0085 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +. 2 88083697 T C - RGPD2 32415 RANBP2-like and GRIP domain containing 2 NM_001078170.2 -1 5503 5271 NP_001071638.2 substitution missense exon GRCh37 88083697 88083697 Chr2(GRCh37):g.88083697T>C 2846 2846 NM_001078170.2:c.2846A>G p.Asn949Ser p.Asn949Ser 20 612705 170 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 0.009337 0.001548 0.012000 0.000000 0.000000 0.000000 0.015067 0.008287 0.020408 0.015067 51 2 3 0 0 0 27 15 4 5462 1292 250 24 98 0 1792 1810 196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 2 3 0 0 0 27 15 4 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition A G A>G 0.315 1.255 N Asn AAT 0.464 S Ser AGT 0.149 949 13 7 Rabbit 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.12 III.69 good 1.487E-2 0.0004219 188 PASS . . . . . . . . . . . . . . . . 0.13138686 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.059 . . 137.0 . . . . . . . . . . -0.7885 -0.754 -0.788 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.390 . . exonic exonic exonic . . 0.185 @ . . . 0.51 0.35 182 ENSG00000185304 RGPD1 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.228 . . 0.231 . . . 0.372 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.379 . . 0 0 0 0 0 0 . 0.234 . . 0.184 . . . . . . 0 0.064 . . . . . 0.206 . 0.003 . LowAF 0.15 . . . . . . . . . . . . . VI.62 . . II.33 0.926 . 0.690000 B4DYH0 . . . . . 0.442 . . . . . . . . . . . . 0.0015 0.0093 0.012 0 0 0.0083 0.0151 0.0204 . . 0.428 . 1.072 1.072000 . . 0.690000 . . 1.0E-188 0.971 0.341 . 0.476 0.819 . 0.226 . 0.298 1.072 -0.013 . rs7562548 rs7562548 rs7562548 rs7562548 1 1538 10 1/0 0,215,255 +rs75347118 2 89100619 C T - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100619 89100619 Chr2(GRCh37):g.89100619C>T 1059 1059 NR_015424.1:n.1059C>T 13 4 3' 81.5785 5.79797 0.042132 0 81.5785 5.79797 0.048537 0 0.0506741 rs75347118 no no 0 C 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 0.000000 0.000000 0.000136 2 0 0 0 0 0 2 0 0 30624 8734 832 288 1618 0 14690 3494 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.681 0.690 233 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.C283T:p.L95L . . . 0.25581396 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N353|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . 0.1416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.35 0.06 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75347118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.531e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . rs75347118 rs75347118 1 1538 10 1/0 0,255,255 +rs78731551 2 89100657 G A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100657 89100657 Chr2(GRCh37):g.89100657G>A 1097 1097 NR_015424.1:n.1097G>A 13 42 3' 81.5785 5.79797 0.042132 0 81.5785 5.79797 0.042132 0 0 rs78731551 no no 0 A 0.000000 0 0.001055 0.000000 0.000000 0.007299 0.000000 0.000000 0.001940 0.000000 0.002088 0.007299 32 0 0 2 0 0 28 0 2 30328 8728 828 274 1616 0 14432 3492 958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 0 0 2 0 0 28 0 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.008 -1.489 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.G321A:p.K107K . . . 0.3653846 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R366K|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.5346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.39 0.09 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78731551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0 0.0073 0 0 0.0019 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78731551 rs78731551 1 1538 10 1/0 0,255,255 +rs74666411 2 89100697 C G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100697 89100697 Chr2(GRCh37):g.89100697C>G 1137 1137 NR_015424.1:n.1137C>G 13 82 3' 81.5785 5.79797 0.042132 0 81.5785 5.79797 0.042132 0 0 rs74666411 no no 0 C 0.000000 0 0.004404 0.000000 0.003713 0.031008 0.000000 0.000000 0.008410 0.000000 0.002141 0.031008 132 0 3 8 0 0 119 0 2 29974 8714 808 258 1618 0 14150 3492 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132 0 3 8 0 0 119 0 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transversion C G C>G 0.000 -0.279 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.C361G:p.Q121E . . . 0.44642857 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 56.0 . . STOP_GAINED(HIGH|NONSENSE|taC/taG|Y379*|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.1518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.39 0.09 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74666411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0044 0.0037 0.0310 0 0 0.0084 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74666411 rs74666411 1 1538 10 1/0 0,255,255 +rs79584169 2 89100701 A G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100701 89100701 Chr2(GRCh37):g.89100701A>G 1141 1141 NR_015424.1:n.1141A>G 13 86 3' 81.5785 5.79797 0.042132 0 81.5785 5.79797 0.042132 0 0 rs79584169 no no 0 A 0.000000 0 0.005527 0.000000 0.003704 0.038168 0.000000 0.000000 0.010568 0.000000 0.003212 0.038168 166 0 3 10 0 0 150 0 3 30032 8724 810 262 1618 0 14194 3490 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 166 0 3 10 0 0 150 0 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition A G A>G 0.000 0.609 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.A365G:p.N122S . . . 0.45 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T381A|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.0095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.41 0.11 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79584169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0055 0.0037 0.0382 0 0 0.0106 0.0032 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79584169 rs79584169 1 1538 10 1/0 0,255,255 +rs75572943 2 89100725 G A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100725 89100725 Chr2(GRCh37):g.89100725G>A 1165 1165 NR_015424.1:n.1165G>A 13 -98 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 1.02449 0 rs75572943 yes no Frequency/1000G 2 G 0.000000 0 0.009878 0.000345 0.006173 0.052632 0.000000 0.000000 0.018516 0.000000 0.010661 0.052632 298 3 5 14 0 0 266 0 10 30168 8708 810 266 1618 0 14366 3462 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 298 3 5 14 0 0 266 0 10 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.000 -0.198 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.G389A:p.R130H . . . 0.5471698 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A389T|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.4367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.56 0.21 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75572943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0099 0.0062 0.0526 0 0 0.0185 0.0107 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75572943 rs75572943 1 1538 10 1/0 0,255,255 +rs73956140 2 89100759 A C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100759 89100759 Chr2(GRCh37):g.89100759A>C 1199 1199 NR_015424.1:n.1199A>C 13 -64 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 1.73305 0 rs73956140 no no 0 A 0.000000 0 0.006253 0.000230 0.003686 0.044776 0.000000 0.000000 0.011518 0.000000 0.007463 0.044776 188 2 3 12 0 0 164 0 7 30064 8710 814 268 1620 0 14238 3476 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 188 2 3 12 0 0 164 0 7 0 0 0 0 0 0 0 0 0 RF 41 Genomes transversion A C A>C 0.000 -1.167 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.A423C:p.V141V . . . 0.4 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 40.0 . . STOP_LOST(HIGH|MISSENSE|tAa/tCa|*400S|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.5085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.46 0.26 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73956140 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0063 0.0037 0.0448 0 0 0.0115 0.0075 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . rs73956140 rs73956140 rs73956140 1 1538 10 1/0 0,255,255 +rs74666751 2 89100764 A G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100764 89100764 Chr2(GRCh37):g.89100764A>G 1204 1204 NR_015424.1:n.1204A>G 13 -59 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 0.784957 0 rs74666751 yes no Frequency/1000G 2 A 0.000000 0 0.004698 0.000229 0.002463 0.033835 0.000000 0.000000 0.008533 0.000000 0.007447 0.033835 141 2 2 9 0 0 121 0 7 30010 8716 812 266 1620 0 14180 3476 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 141 2 2 9 0 0 121 0 7 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition A G A>G 0.020 0.609 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.A428G:p.E143G . . . 0.42105263 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N402D|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . 0.0043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.48 0.3 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74666751 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0047 0.0025 0.0338 0 0 0.0085 0.0074 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs74666751 rs74666751 1 1538 10 1/0 0,255,255 +rs112251260 2 89100805 A G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100805 89100805 Chr2(GRCh37):g.89100805A>G 1245 1245 NR_015424.1:n.1245A>G 13 -18 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 1.30957 0 rs112251260 no no 0 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000068 1 0 0 0 0 0 1 0 0 30528 8726 830 284 1620 0 14618 3488 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition A G A>G 0.496 -0.037 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.A469G:p.K157E . . . 0.39285713 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K415|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . 0.0226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.42 0.26 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112251260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.276e-05 0 0 0 0 6.841e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112251260 rs112251260 1 1538 10 1/0 0,0,0 +rs112658022 2 89100808 C A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100808 89100808 Chr2(GRCh37):g.89100808C>A 1248 1248 NR_015424.1:n.1248C>A 13 -15 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 0.911707 0 rs112658022 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30558 8708 830 286 1612 0 14672 3486 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Genomes transversion C A C>A 0.543 -0.763 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.C472A:p.Q158K . . . 0.37037036 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S416R|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.2053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.44 0.19 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112658022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112658022 rs112658022 1 1538 10 1/0 0,0,0 +rs78708418 2 89103862 T C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89103862 89103862 Chr2(GRCh37):g.89103862T>C 1263-32 1263-32 NR_015424.1:n.1263-32T>C p.? p.? 14 13 -32 3' 83.6622 X.79 0.980507 6.41071 83.6622 X.79 0.980507 6.43797 0 89103864 -24.7594 rs78708418 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.7609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.21 0.09 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78708418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74263328 rs74263328 1 1538 10 1/0 0,255,255 +rs78447802 2 89103894 C T - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89103894 89103894 Chr2(GRCh37):g.89103894C>T 1263 1263 NR_015424.1:n.1263C>T 14 1 3' 83.6622 X.79 0.980507 6.41071 83.1765 10.236 0.983743 VI.82 -0.00187237 Cryptic Acceptor Strongly Activated 89103901 0.397755 0.727879 0.525404 rs78447802 no no 0 C 0.000000 0 transition C T C>T 0.047 -0.117 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon14:c.C487T:p.L163F . . . 0.37142858 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N421|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.14) . . . . . . . -0.1813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.36 0.19 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78447802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78447802 rs78447802 1 1538 10 1/0 0,255,255 +rs879028543 2 89104252 A T - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104252 89104252 Chr2(GRCh37):g.89104252A>T 1334-49 1334-49 NR_015424.1:n.1334-49A>T p.? p.? 15 14 -49 3' 70.7776 4.79558 0.442123 0 70.7776 4.79558 0.442123 0 0 89104252 -73.1337 rs879028543 no no 0 A 0.000000 0 transversion A T A>T 0.000 -0.844 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.4541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs113686823 2 89104259 A C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104259 89104259 Chr2(GRCh37):g.89104259A>C 1334-42 1334-42 NR_015424.1:n.1334-42A>C p.? p.? 15 14 -42 3' 70.7776 4.79558 0.442123 0 70.7776 4.79558 0.442123 0 0 rs113686823 no no 0 A 0.000000 0 transversion A C A>C 0.008 0.690 255 PASS . . . . . . . . . . . . . . . . 0.39473686 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.2232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.29 0.14 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113686823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113686823 rs113686823 1 1538 10 1/0 0,255,255 +rs79982988 2 89104266 G A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104266 89104266 Chr2(GRCh37):g.89104266G>A 1334-35 1334-35 NR_015424.1:n.1334-35G>A p.? p.? 15 14 -35 3' 70.7776 4.79558 0.442123 0 70.7776 4.79558 0.442123 0 0 Cryptic Donor Strongly Activated 89104267 0.506019 0.006754 64.6049 1.03755 0.077095 73.5657 rs79982988 yes no Frequency 1 G 0.000000 0 transition G A G>A 0.051 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.3902439 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.4898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.27 0.19 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79982988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79982988 rs79982988 1 1538 10 1/0 0,255,255 +rs368889268 2 89104284 T G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104284 89104284 Chr2(GRCh37):g.89104284T>G 1334-17 1334-17 NR_015424.1:n.1334-17T>G p.? p.? 15 14 -17 3' 70.7776 4.79558 0.442123 0 70.7776 2.85509 0.200961 0 -0.316701 89104286 -25.7487 rs368889268 no no 0 T 0.000000 0 transversion T G T>G 0.232 -0.924 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.3107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs368889268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs368889268 rs368889268 1 1538 10 1/0 0,255,255 +rs77716262 2 89104334 T G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89104334 89104334 Chr2(GRCh37):g.89104334T>G 1367 1367 NR_015424.1:n.1367T>G 15 34 3' 70.7776 4.79558 0.442123 0 70.7776 4.79558 0.442123 0 0 rs77716262 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.002300 0.000000 0.002000 0.002000 0.002900 0.000368 0.000393 0.001316 0.000000 0.000000 0.000000 0.000152 0.001007 0.001168 0.001316 10 3 1 0 0 0 2 3 1 27138 7638 760 282 1452 0 13172 2978 856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 1 0 0 0 2 3 1 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion T G T>G 0.000 -0.198 164 PASS . . . . . 0.0023 0.0018 0.0029 0.002 0.002 . . ANKRD36BP2:uc010fhg.4:exon15:c.T591G:p.T197T . . . 0.43076923 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 65.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTa/cGa|L456R|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.15) . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0018 . . . 0.32 0.3 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77716262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0013 0 0 0.0010 0.0002 0.0012 . . . . . . . . . . . 1.0E-164 . . . . . . . . . . . . . . rs77716262 rs77716262 1 1538 10 1/0 0,255,255 +rs4020366 2 89104882 C A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104882 89104882 Chr2(GRCh37):g.89104882C>A 1428-11 1428-11 NR_015424.1:n.1428-11C>A p.? p.? 16 15 -11 3' 91.1404 9.07743 0.955744 2.22883 88.857 8.44615 0.919953 2.34608 -0.0440153 rs4020366 no no 0 C 0.000000 0 0.004082 0.000243 0.005848 0.008403 0.000000 0.000000 0.005277 0.011570 0.006158 0.011570 111 2 4 2 0 0 70 28 5 27194 8236 684 238 1538 0 13266 2420 812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 2 4 2 0 0 70 28 5 0 0 0 0 0 0 0 0 0 RF 51 Genomes transversion C A C>A 0.870 -0.198 241 PASS . . . . . . . . . . . . . . . . 0.27868852 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . 0.1298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.25 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4020366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0041 0.0058 0.0084 0 0.0116 0.0053 0.0062 . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . rs4020366 rs4020366 rs4020366 rs4020366 1 1538 10 1/0 0,255,255 +. 2 89104896 C CTG - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 insertion exon GRCh37 89104896 89104897 Chr2(GRCh37):g.89104896_89104897insTG 1431 1432 NR_015424.1:n.1431_1432insTG 16 4 3' 91.1404 9.07743 0.955744 2.22883 91.1404 9.07743 0.839944 2.71063 -0.0403874 TG 255 Pass . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon16:c.655_656insTG:p.P219fs . . . 0.1923077 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 78 . . FRAME_SHIFT(HIGH||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.16) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs5832744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs5832744 rs5832744 rs5832744 1 1538 10 1.I 0,7,72 +. 2 89104897 CA C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 deletion exon GRCh37 89104898 89104898 Chr2(GRCh37):g.89104898del 1433 1433 NR_015424.1:n.1433del 16 6 3' 91.1404 9.07743 0.955744 2.22883 91.1404 9.07743 0.941206 1.73551 -0.0050704 rs62996860 no no 0 A 0.000000 0 A 255 Pass . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon16:c.657delA:p.P219fs . . . 0.18518518 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 81 . . FRAME_SHIFT(HIGH||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.16) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62996860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62996860 rs62996860 rs62996860 rs62996860 1 1538 10 1.I 0,7,73 +rs1854389 2 89104959 T C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104959 89104959 Chr2(GRCh37):g.89104959T>C 1457+37 1457+37 NR_015424.1:n.1457+37T>C p.? p.? 16 16 37 5' 89.5197 9.78772 0.981514 1.68002 89.5197 9.78772 0.981514 1.62773 0 rs1854389 no no 0 T 0.000000 0 transition T C T>C 0.008 -1.167 174 PASS . . . . . . . . . . . . . . . . 0.10185185 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.2985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.44 0.39 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs1854389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs1854389 rs1854389 rs1854389 rs1854389 1 1538 10 1/0 0,223,255 +rs3952533 2 89104978 C G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104978 89104978 Chr2(GRCh37):g.89104978C>G 1457+56 1457+56 NR_015424.1:n.1457+56C>G p.? p.? 16 16 56 5' 89.5197 9.78772 0.981514 1.68002 89.5197 9.78772 0.981514 1.47671 0 New Donor Site 89104977 8.59132 0.933171 78.1641 rs3952533 no no 0 C 0.000000 0 transversion C G C>G 0.055 -0.198 183 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.4261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.43 0.29 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3952533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs3952533 rs3952533 rs3952533 rs3952533 1 1538 10 1/0 0,255,255 +rs780218093 2 89326842 T C - IGKC 5716 Immunoglobulin kappa constant ENST00000614656.1 -1 824 711 ENSP00000478196 substitution intron GRCh37 89326842 89326842 Chr2(GRCh37):g.89326842T>C 351+12879 351+12879 ENST00000614656.1:c.351+12879A>G p.? p.? 2 2 147200 12879 5' 0 0 0 0 0 0 0 0 0 rs780218093 yes no Frequency 1 0.000000 0 0.000136 0.000726 0.000030 0.000310 0.000175 0.000000 0.000129 0.000000 0.000184 0.000726 33 11 1 3 3 0 14 0 1 242448 15150 33512 9682 17184 30754 108442 22298 5426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 11 1 3 3 0 14 0 1 0 0 0 0 0 0 0 0 0 RF 106 Exomes transition A G A>G 0.921 -0.924 195 PASS . . . . . . . . . . . ENSG00000241351:ENST00000483158:exon2:c.A171G:p.Q57Q . . . . 0.14814815 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2649 . . . . . . . . 4.569e-04 . . . 0.0017 0.0003 0.0003 0.0002 0 0.0002 0 0 0.0019 0.0003 0.0003 0.0003 0 0.0002 0 0 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.29 0.2 182 ENSG00000241351 abParts . . . dist\x3d214874\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs780218093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0001 2.984e-05 0.0003 0.0002 0 0.0001 0.0002 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . rs2847799 rs2847799 rs2847799 rs2847799 1 1538 10 1/0 0,255,255 +rs749889971 (chr2:89476517 G/T) 2 89476517 G T Not on a known gene +rs200048221 (chr2:89521389 C/G) 2 89521389 C G Not on a known gene +. (chr2:89596986 T/TG) 2 89596986 T TG Not on a known gene +rs11685562 (chr2:89630002 G/A) 2 89630002 G A Not on a known gene +rs775980820 (chr2:89999397 C/A) 2 89999397 C A Not on a known gene +. (chr2:90043734 C/A) 2 90043734 C A Not on a known gene +. (chr2:90274142 C/T) 2 90274142 C T Not on a known gene +rs369487290 (chr2:90458361 C/T) 2 90458361 C T Not on a known gene +. (chr2:90493302 G/A) 2 90493302 G A Not on a known gene +rs3871371 (chr2:91679340 A/C) 2 91679340 A C Not on a known gene +rs2433883 (chr2:91766609 G/A) 2 91766609 G A Not on a known gene +rs2580541 (chr2:91767507 T/A) 2 91767507 T A Not on a known gene +rs2536993 (chr2:91809227 A/G) 2 91809227 A G Not on a known gene +rs2310687 (chr2:91809385 C/G) 2 91809385 C G Not on a known gene +rs4244681 (chr2:91809402 T/G) 2 91809402 T G Not on a known gene +rs2215642 (chr2:91809404 G/C) 2 91809404 G C Not on a known gene +rs878896389 (chr2:91924967 C/T) 2 91924967 C T Not on a known gene +rs200581143 (chr2:91924972 G/A) 2 91924972 G A Not on a known gene +rs2659422 (chr2:91927088 G/A) 2 91927088 G A Not on a known gene +rs62143840 (chr2:91927214 T/C) 2 91927214 T C Not on a known gene +rs76228304 (chr2:91927230 C/T) 2 91927230 C T Not on a known gene +rs79762105 (chr2:91927231 A/G) 2 91927231 A G Not on a known gene +rs75714442 (chr2:91927284 T/C) 2 91927284 T C Not on a known gene +rs76634689 (chr2:91927343 T/C) 2 91927343 T C Not on a known gene +rs79958206 (chr2:91927356 G/A) 2 91927356 G A Not on a known gene +rs62143841 (chr2:91927406 A/C) 2 91927406 A C Not on a known gene +rs62143842 (chr2:91927482 A/G) 2 91927482 A G Not on a known gene +rs62143843 (chr2:91927489 G/A) 2 91927489 G A Not on a known gene +rs2456612 (chr2:91933025 C/T) 2 91933025 C T Not on a known gene +rs2456611 (chr2:91933207 T/C) 2 91933207 T C Not on a known gene +rs2659397 (chr2:91936030 A/G) 2 91936030 A G Not on a known gene +rs2659396 (chr2:91936054 T/C) 2 91936054 T C Not on a known gene +rs75268796 (chr2:91936121 A/G) 2 91936121 A G Not on a known gene +rs2659395 (chr2:91937662 A/G) 2 91937662 A G Not on a known gene +rs2659394 (chr2:91937699 C/T) 2 91937699 C T Not on a known gene +rs2456608 (chr2:91940245 A/C) 2 91940245 A C Not on a known gene +rs71422481 (chr2:91940250 T/C) 2 91940250 T C Not on a known gene +rs62145906 (chr2:91940297 C/T) 2 91940297 C T Not on a known gene +rs2456607 (chr2:91940306 G/A) 2 91940306 G A Not on a known gene +rs62142696 (chr2:91943835 T/C) 2 91943835 T C Not on a known gene +rs62142698 (chr2:91944151 C/T) 2 91944151 C T Not on a known gene +rs62142699 (chr2:91944161 G/A) 2 91944161 G A Not on a known gene +rs1890165 (chr2:91955313 G/A) 2 91955313 G A Not on a known gene +rs74324957 (chr2:91955375 G/A) 2 91955375 G A Not on a known gene +rs2659346 (chr2:91955404 T/C) 2 91955404 T C Not on a known gene +. (chr2:92005905 T/A) 2 92005905 T A Not on a known gene +. (chr2:92006020 G/C) 2 92006020 G C Not on a known gene +. (chr2:92006192 G/A) 2 92006192 G A Not on a known gene +. (chr2:92222630 C/T) 2 92222630 C T Not on a known gene +. (chr2:92222802 C/G) 2 92222802 C G Not on a known gene +. (chr2:92222851 G/A) 2 92222851 G A Not on a known gene +. (chr2:92222859 C/T) 2 92222859 C T Not on a known gene +. (chr2:92222917 A/T) 2 92222917 A T Not on a known gene +rs782454101 2 95481531 G A - ANKRD20A8P 23666 Ankyrin repeat domain 20 family, member A8, pseudogene NR_003366.2 -1 3670 0 substitution exon GRCh37 95481531 95481531 Chr2(GRCh37):g.95481531G>A 1534 1534 NR_003366.2:n.1534C>T 13 220 3' 91.8304 XII.49 0.97462 9.73058 91.8304 XII.49 0.97462 9.73058 0 rs782454101 yes no Frequency 1 G 0.000000 0 0.000036 0.000000 0.000031 0.000000 0.000278 0.000000 0.000026 0.000000 0.000000 0.000278 9 0 1 0 5 0 3 0 0 247206 21032 32304 9106 17960 28488 114098 18370 5848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 1 0 5 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.173 2.062 252 PASS . . . . . . . . . . . . ANKRD20A8P:uc010fhq.2:exon2:c.C457T:p.R153W . . . 0.3148148 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R512W|ANKRD20A8P|Non-coding_transcript|NON_CODING|NR_003366|NR_003366.ex.13) . . . . . . . 0.4249 . . . . . . . . 1.640e-05 . . . 0 2.76e-05 0 0 0 3.167e-05 0 6.369e-05 0 1.129e-05 0 0 0 0 0 6.403e-05 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000229089 ANKRD20A8P ANKRD20A8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.27 0 2.754e-05 3.173e-05 0 0.0001 0 2.99e-05 0 0 0 0.0001 0 0 0.0019 0 0 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs376155492 2 95513820 C T - ANKRD20A8P 23666 Ankyrin repeat domain 20 family, member A8, pseudogene NR_003366.2 -1 3670 0 substitution exon GRCh37 95513820 95513820 Chr2(GRCh37):g.95513820C>T 585 585 NR_003366.2:n.585G>A 5 -59 5' 87.5573 9.72159 0.994436 3.52995 87.5573 9.72159 0.994436 3.10299 0 Cryptic Acceptor Strongly Activated 95513813 1.55131 0.075012 77.5156 1.73001 0.085972 77.5156 rs376155492 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30976 8728 838 302 1622 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 51 Genomes transition G A G>A 0.000 -3.104 238 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S195|ANKRD20A8P|Non-coding_transcript|NON_CODING|NR_003366|NR_003366.ex.5) . . . . . . . -0.8513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000229089 . ANKRD20A8P . dist\x3d30274\x3bdist\x3d20602 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . rs376155492 rs376155492 1 1538 10 1/0 0,255,255 +rs201608529 2 95537570 C G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95537570 95537570 Chr2(GRCh37):g.95537570C>G 246 246 NM_144705.3:c.246C>G p.Arg82= p.Arg82Arg 1 -253 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs201608529 yes no Frequency 1 0.000000 0 transversion C G C>G 1.000 1.255 R Arg CGC 0.190 R Arg CGG 0.207 82 186 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.C246G:p.R82R TEKT4:NM_144705:exon1:c.C246G:p.R82R . . 0.12605043 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . 1.1338 . . . . . . . . 1.202e-04 . . . 0.0009 0.0002 0 0 0 0.0002 0 0 0.0010 0.0001 0 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.32 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs201608529 rs201608529 1 1538 10 1/0 0,221,255 +rs142275728 2 95537593 C G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95537593 95537593 Chr2(GRCh37):g.95537593C>G 269 269 NM_144705.3:c.269C>G p.Thr90Arg p.Thr90Arg 1 -230 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs142275728 yes no Frequency 1 0.000000 0 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30832 8700 820 302 1608 0 14952 3468 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes COSM4590788 Upper aerodigestive tract 0.002412 1244 transversion C G C>G 0.000 -1.247 T Thr ACA 0.280 R Arg AGA 0.205 90 12 2 Chimp -1 -1 -2 0.71 0.65 8.VI 10.V 61 124 71 C0 145.16 0.00 Tolerated 0.5 3.VII 184 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.C269G:p.T90R TEKT4:NM_144705:exon1:c.C269G:p.T90R . . 0.12195122 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.031 . . 123.0 . . . . . . . . . . -2.2222 -2.213 -2.222 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.038 @ . . . 0.19 0.27 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.996 0.344 . . . . . . . Uncertain_significance . 0 . 0.090 . . . . T 0.028 0.002 . . 37 . 0.006 . . 0.405 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.043 . . . . . 0.141 . 0.267 . LowAF 0.44 . . . . . . . . . . . . . 5.1143 . . I.97 -3.95 . 1.000000 Q8WW24 . . . . . 0.021 . . . . . . . . . . . . 0.0001 3.243e-05 0 0 0 0 0 0 . . 0.208 . -1.399 -1.399000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.083 0.057 . 0.020 . 0.006 -1.399 -0.609 . . . rs142275728 rs142275728 1 1538 10 1/0 0,219,255 +rs146717188 2 95537594 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95537594 95537594 Chr2(GRCh37):g.95537594A>G 270 270 NM_144705.3:c.270A>G p.Thr90= p.Thr90Thr 1 -229 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Cryptic Donor Strongly Activated 95537594 0.000968 58.4215 6.82506 0.019787 70.5575 Tektin rs146717188 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 228140 13410 32620 9514 16484 30086 102190 18644 5192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes transition A G A>G 0.000 -1.247 T Thr ACA 0.280 T Thr ACG 0.116 90 186 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.A270G:p.T90T TEKT4:NM_144705:exon1:c.A270G:p.T90T . . 0.12711865 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.2476 . . . . . . . . 7.997e-06 . . . 0 1.423e-05 0 0 0 3.228e-05 0 0 0 1.182e-05 0 0 0 2.321e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.27 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.383e-06 0 0 0 0 9.786e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs146717188 rs146717188 1 1538 10 1/0 0,221,255 +rs199695568 2 95537605 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95537605 95537605 Chr2(GRCh37):g.95537605G>A 281 281 NM_144705.3:c.281G>A p.Arg94Gln p.Arg94Gln 1 -218 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs199695568 yes no Frequency 1 0.000000 0 0.000190 0.000046 0.000061 0.000000 0.000338 0.000034 0.000305 0.000146 0.000000 0.000338 48 1 2 0 6 1 35 3 0 253138 21650 32910 9702 17738 29626 114854 20592 6066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 1 2 0 6 1 35 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3396495|COSM3396495|COSM3396495 Upper aerodigestive tract|Prostate|Large intestine 0.002412|0.000567|0.000443 1244|1764|2257 transition G A G>A 0.992 3.918 R Arg CGA 0.110 Q Gln CAA 0.256 94 12 12 Fruitfly 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C35 0.00 42.81 Deleterious 0 3.VII 180 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.G281A:p.R94Q TEKT4:NM_144705:exon1:c.G281A:p.R94Q . . 0.11278196 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.724 . @ . . . . . 1 0.975 . . 133.0 . . . . . . . . . . 0.3762 0.088 0.376 c . . . . . 2.316e-04 . . . 0.0001 0.0001 0.0001 0.0002 0.0004 0.0001 0 6.993e-05 0 0.0003 0.0001 0.0003 0.0002 0.0004 0 7.022e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.098 . . exonic exonic exonic . . 0.252 @ . . . 0.27 0.33 182 ENSG00000163060 TEKT4 TEKT4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.249 0.009 . . 37 . 0.392 . . 0.489 . . . 0.966 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.712 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.385 . 0.765 . LowAF 0 rs199695568 . . . . . . . . . . . . IX.16 . . I.97 I.97 . 0.000000 Q8WW24 . . . . . 0.597 . . . 7.718e-05 0.0002 6.233e-05 0 0.0004 0.0002 0.0003 0 3.375e-05 0 0.0001 0 0 0 0 0.0003 0 . . 0.208 . 1.094 1.094000 . . 0.000000 . . 1.0E-180 0.996 0.391 . 0.190 0.288 . 0.578 . 0.279 1.094 0.562 . . . rs199695568 rs199695568 1 1538 10 1/0 0,215,255 +rs111669261 2 95537633 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95537633 95537633 Chr2(GRCh37):g.95537633G>A 309 309 NM_144705.3:c.309G>A p.Ser103= p.Ser103Ser 1 -190 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs111669261 yes no Frequency 1 0.000000 0 0.000036 0.000047 0.000031 0.000104 0.000057 0.000000 0.000044 0.000000 0.000000 0.000104 9 1 1 1 1 0 5 0 0 248672 21246 32778 9616 17552 29224 113934 18344 5978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 1 1 1 0 5 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM722901|COSM722901 Lung|Large intestine 0.000419|0.000443 2388|2257 transition G A G>A 0.646 -1.409 S Ser TCG 0.056 S Ser TCA 0.148 103 187 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.G309A:p.S103S TEKT4:NM_144705:exon1:c.G309A:p.S103S . . 0.128 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 125.0 . . . . . . . . . . 0.5892 . . . . . . . . 1.435e-04 . . . 0.0009 0.0002 0 0 0 0.0002 0 0 0.0008 0.0001 0 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.29 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . ID\x3dCOSM722901\x3bOCCURENCE\x3d1(lung) . . . . . . . . . . . . . . . . . . . . . . 7.973e-05 4.132e-05 3.13e-05 0.0001 6.274e-05 0 5.052e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs111669261 rs111669261 1 1538 10 1/0 0,219,255 +rs77824556 2 95537649 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95537649 95537649 Chr2(GRCh37):g.95537649A>G 325 325 NM_144705.3:c.325A>G p.Met109Val p.Met109Val 1 -174 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs77824556 yes no Frequency 1 0.000000 0 0.000016 0.000047 0.000000 0.000000 0.000000 0.000000 0.000017 0.000056 0.000000 0.000056 4 1 0 0 0 0 2 1 0 249622 21432 32974 9656 17682 29212 114894 17766 6006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4133979|COSM4133979 Upper aerodigestive tract|Thyroid 0.003215|0.001339 1244|747 transition A G A>G 0.008 0.044 M Met ATG 1.000 V Val GTG 0.468 109 12 1 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 28.68 0.00 Tolerated 0.32 3.VII 184 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.A325G:p.M109V TEKT4:NM_144705:exon1:c.A325G:p.M109V . . 0.122137405 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.097 . @ . . . . . 1 0.030 . . 131.0 . . . . . . . . . . -1.3966 -1.383 -1.397 c . . . . . 1.114e-04 . . . 0.0005 0.0001 0 0 0 0.0002 0 0 0.0006 0.0001 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.072 @ . . . 0.15 0.25 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.956 0.282 . . . . . . . Uncertain_significance . 0 . 0.323 . . . . T 0.017 0.001 . . 37 . 0.007 . . 0.431 . . . 0.003 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.163 . . . . . 0.094 . 0.135 . LowAF 0.02 . . . . . . . . . . . . . 4.088 . . I.84 -1.91 . 0.200000 Q8WW24 . . . . . 0.108 . . . 7.852e-05 1.828e-05 0 0 0 6.994e-05 2.001e-05 0 0 0 0 0 0 0 0 0 0 . . 0.208 . -0.992 -0.992000 . . 0.200000 . . 9.999999999999999E-185 0.075 0.220 . 0.140 0.079 . 0.340 . 0.075 -0.992 -1.790 . . . rs77824556 rs77824556 1 1538 10 1/0 0,216,255 +rs112908382 2 95541414 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541414 95541414 Chr2(GRCh37):g.95541414G>A 1018 1018 NM_144705.3:c.1018G>A p.Val340Ile p.Val340Ile 5 -74 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.26815 0 Tektin rs112908382 yes no Frequency 1 0.000000 0 0.000054 0.000000 0.000058 0.000000 0.000106 0.000065 0.000063 0.000000 0.000155 0.000106 15 0 2 0 2 2 8 0 1 277010 23964 34412 10148 18858 30782 126604 25782 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 2 0 2 2 8 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.992 3.595 V Val GTA 0.114 I Ile ATA 0.163 340 12 11 Fruitfly 3 3 4 0 0 5.IX 5.II 84 111 29 C0 223.30 28.68 Deleterious 0 3.V 189 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.G1018A:p.V340I TEKT4:uc002stw.1:exon5:c.G1018A:p.V340I . . . 0.13304721 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.665 . @ . . . . . 1 0.691 . . 233.0 . . . . . . . . . . 0.2163 -0.016 0.216 c . . . . . 5.525e-05 . . . 0 2.208e-05 0 0 0 4.76e-05 0 0 0 4.712e-05 0 0 0 9.213e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.038 . . exonic exonic exonic . . 0.277 @ . . . 0.35 0.41 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.855 0.251 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.107 0.004 . . 37 . 0.202 . . 0.044 . . . 0.957 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.223 . . 0 0 0 0 0 0 . 0.588 . . 0.590 . . . . . . 1 0.586 . . . . . 0.428 . 0.552 . LowAF 0.02 . . . . . . . . . . . . . X.48 . ENST00000295201 II.31 II.31 . 0.020000 Q8WW24 . . . . . 0.429 . . II.31 0 4.874e-05 5.956e-05 0 0 0 7.164e-05 0 6.497e-05 0 9.739e-05 0 0 0.0012 0 0 0.0010 . . 0.283 . 1.314 1.314000 . . 0.020000 . . 1.0E-189 0.996 0.391 . 0.162 0.037 . 0.558 . 0.291 1.314 -0.628 . . . rs112908382 rs112908382 1 1538 10 1/0 0,193,255 +rs114824441 2 95541427 G T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541427 95541427 Chr2(GRCh37):g.95541427G>T 1031 1031 NM_144705.3:c.1031G>T p.Arg344Leu p.Arg344Leu 5 -61 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.45857 0 Tektin 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 276960 23956 34398 10150 18864 30782 126600 25748 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM107201|COSM107201 Skin|Lung 0.000812|0.000419 1232|2388 transversion G T G>T 1.000 3.595 R Arg CGG 0.207 L Leu CTG 0.404 344 12 11 Fruitfly -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 241.31 90.63 Deleterious 0 3.V 198 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.G1031T:p.R344L TEKT4:uc002stw.1:exon5:c.G1031T:p.R344L . . . 0.15352698 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.881 . @ . . . . . 1 0.866 . . 241.0 . . . . . . . . . . 0.5438 0.337 0.544 c . . . . . 7.893e-06 . . . 0 1.104e-05 0 0 0 0 0 6.061e-05 0 9.425e-06 0 0 0 0 0 6.096e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.266 . . exonic exonic exonic . . 0.277 @ . . . 0.37 0.35 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.855 0.251 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.649 0.052 . . 37 . 0.569 . . 0.667 . . . 0.966 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.927 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.428 . 0.833 . HET 0 rs114824441 . . CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000060629.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000060629.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000060629.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000060629.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . X.48 . ENST00000295201 II.31 II.31 . 0.000000 Q8WW24 . . . . . 0.482 . . II.31 0 4.062e-06 0 0 0 0 0 0 3.249e-05 0 0 0 0 0 0 0 0 . . 0.283 . 1.314 1.314000 . . 0.000000 . . 1.0E-198 1.000 0.715 . 0.264 0.061 . 0.577 . 0.284 1.314 0.562 . . . rs114824441 . 1 1538 10 1/0 0,193,255 +rs200040675 2 95541428 G T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95541428 95541428 Chr2(GRCh37):g.95541428G>T 1032 1032 NM_144705.3:c.1032G>T p.Arg344= p.Arg344Arg 5 -60 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.38523 0 Tektin rs200040675 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30742 8648 826 302 1616 0 14924 3450 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transversion G T G>T 1.000 0.367 R Arg CGG 0.207 R Arg CGT 0.082 344 202 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.G1032T:p.R344R TEKT4:uc002stw.1:exon5:c.G1032T:p.R344R . . . 0.16455697 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 237.0 . . . . . . . . . . I.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.27 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs200040675 rs200040675 1 1538 10 1/0 0,195,255 +rs201206924 2 95541442 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541442 95541442 Chr2(GRCh37):g.95541442C>T 1046 1046 NM_144705.3:c.1046C>T p.Ser349Leu p.Ser349Leu 5 -46 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 7.86985 0 Tektin rs201206924 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000029 1 0 1 0 0 0 0 0 0 276882 23950 34402 10150 18856 30782 126528 25754 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3364854 Kidney 0.000578 1729 transition C T C>T 0.992 3.595 S Ser TCG 0.056 L Leu TTG 0.127 349 12 9 Fruitfly -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 275.49 8.IX Deleterious 0.02 3.V 198 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1046T:p.S349L TEKT4:uc002stw.1:exon5:c.C1046T:p.S349L . . . 0.15481171 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.859 . @ . . . . . 1 0.945 . . 239.0 . . . . . . . . . . -0.0533 -0.206 -0.053 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.277 @ . . . 0.33 0.41 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.855 0.251 . . . . . . . Uncertain_significance . 0 . 0.337 . . . . T 0.377 0.016 . . 37 . 0.072 . . 0.438 . . . 0.726 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.641 . . 0 0 0 0 0 0 . 0.622 . . 0.548 . . . . . . 1 0.721 . . . . . 0.428 . 0.634 . HET 0.01 . 0.011 0.007 . . . . ID\x3dCOSM3364854\x3bOCCURENCE\x3d1(kidney) . . . . . X.48 . ENST00000295201 II.31 II.31 . 0.280000 Q8WW24 . . . . . 0.198 . . II.31 0 4.063e-06 2.978e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.283 . 1.314 1.314000 . . 0.280000 . . 1.0E-198 0.109 0.228 . 0.176 0.011 . 0.564 . 0.080 1.314 0.542 0.011 . . rs201206924 rs201206924 1 1538 10 1/0 0,194,255 +rs202121290 2 95541447 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541447 95541447 Chr2(GRCh37):g.95541447C>T 1051 1051 NM_144705.3:c.1051C>T p.Arg351Trp p.Arg351Trp 5 -41 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.41866 0 Tektin rs202121290 yes no Frequency 1 0.000000 0 0.000011 0.000042 0.000000 0.000000 0.000053 0.000032 0.000000 0.000000 0.000000 0.000053 3 1 0 0 1 1 0 0 0 276844 23946 34400 10150 18852 30782 126508 25748 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.932 R Arg CGG 0.207 W Trp TGG 1.000 351 12 11 Fruitfly -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 241.31 94.79 Deleterious 0 3.V 203 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1051T:p.R351W TEKT4:uc002stw.1:exon5:c.C1051T:p.R351W . . . 0.16595745 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.891 . @ . . . . . 1 0.948 . . 235.0 . . . . . . . . . . 0.0817 -0.206 0.082 c . . . . . 7.893e-06 . . . 0 1.106e-05 0 0 0 0 0 6.072e-05 0 9.439e-06 0 0 0 0 0 6.106e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.267 . . exonic exonic exonic . . 0.130 @ . . . 0.33 0.38 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.001 0.075 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.685 0.062 . . 37 . 0.536 . . 0.567 . . . 0.937 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.956 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 1 0.912 . . . . . 0.248 . 0.853 . HET 0 . . . . . . . . . . . . . 7.1842 . ENST00000295201 II.31 -0.072 . 0.000000 Q8WW24 . . . . . 0.077 . . . 0 8.126e-06 0 0 5.798e-05 0 0 0 3.249e-05 0.0001 3.255e-05 0 0 0 0 0 0 . . 0.283 . 0.281 0.281000 . . 0.000000 . . 1.0E-203 0.140 0.233 . 0.122 0.069 . 0.214 . 0.280 0.281 -0.609 . . . rs202121290 rs202121290 1 1538 10 1/0 0,195,255 +rs201284314 2 95541467 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95541467 95541467 Chr2(GRCh37):g.95541467C>T 1071 1071 NM_144705.3:c.1071C>T p.Cys357= p.Cys357Cys 5 -21 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.24757 0 Cryptic Acceptor Strongly Activated 95541478 1.0891 0.003958 66.0714 1.97293 0.009042 70.1733 Tektin rs201284314 yes no Frequency 1 0.000000 0 COSM5765678 Large intestine 0.000443 2257 transition C T C>T 1.000 2.142 C Cys TGC 0.552 C Cys TGT 0.448 357 194 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1071T:p.C357C TEKT4:uc002stw.1:exon5:c.C1071T:p.C357C . . . 0.14418605 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 215.0 . . . . . . . . . . I.49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.32 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs201284314 rs201284314 1 1538 10 1/0 0,197,255 +rs202183695 2 95541468 C G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541468 95541468 Chr2(GRCh37):g.95541468C>G 1072 1072 NM_144705.3:c.1072C>G p.Arg358Gly p.Arg358Gly 5 -20 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.28169 0 Cryptic Donor Strongly Activated 95541468 0.000463 52.6429 3.16015 0.017519 65.954 Tektin rs202183695 yes no Frequency 1 0.000000 0 0.000004 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000065 1 1 0 0 0 0 0 0 0 245716 15292 33562 9834 17240 30768 111276 22276 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes COSM5765620 Large intestine 0.000886 2257 transversion C G C>G 1.000 0.851 R Arg CGT 0.082 G Gly GGT 0.162 358 12 11 Fruitfly -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 241.31 24.28 Deleterious 0 3.V 184 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1072G:p.R358G TEKT4:uc002stw.1:exon5:c.C1072G:p.R358G . . . 0.1448598 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.702 . @ . . . . . 1 0.657 . . 214.0 . . . . . . . . . . 0.2915 0.058 0.292 c . . . . . 7.894e-06 . . . 9.73e-05 1.117e-05 0 0 0 0 0 0 0.0001 9.521e-06 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.036 . . exonic exonic exonic . . 0.213 @ . . . 0.3 0.34 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.001 0.077 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.244 0.009 . . 37 . 0.207 . . 0.015 . . . 0.965 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.921 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.784 . . . . . 0.202 . 0.883 . LowAF 0 . . . . . . . . . . . . . VI.13 2.68E-4 ENST00000295201 II.45 1.IV . 0.010000 Q8WW24 . . . . . 0.249 . . . 6.539e-05 4.07e-06 0 0 0 0 0 0 0 . . . . . . . . . . 0.283 . 1.408 1.408000 . . 0.010000 . . 9.999999999999999E-185 0.995 0.385 . 0.195 0.583 . 0.191 . 0.280 1.408 -0.609 . . . rs202183695 rs202183695 1 1538 10 1/0 0,198,255 +rs111234447 2 95541470 T C - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95541470 95541470 Chr2(GRCh37):g.95541470T>C 1074 1074 NM_144705.3:c.1074T>C p.Arg358= p.Arg358Arg 5 -18 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.86954 0 Tektin rs111234447 yes no Frequency 1 0.000000 0 COSM5766312 Large intestine 0.000443 2257 transition T C T>C 0.717 -3.023 R Arg CGT 0.082 R Arg CGC 0.190 358 192 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.T1074C:p.R358R TEKT4:uc002stw.1:exon5:c.T1074C:p.R358R . . . 0.13875598 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . 0.1482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.34 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs111234447 rs111234447 1 1538 10 1/0 0,198,255 +rs201902069 2 95541471 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541471 95541471 Chr2(GRCh37):g.95541471G>A 1075 1075 NM_144705.3:c.1075G>A p.Asp359Asn p.Asp359Asn 5 -17 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 7.87372 0 Tektin rs201902069 yes no Frequency/1000G 2 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245686 15288 33560 9830 17244 30770 111264 22262 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes COSM5765644 Large intestine 0.000443 2257 transition G A G>A 0.866 3.676 D Asp GAC 0.539 N Asn AAC 0.536 359 12 11 Fruitfly 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 213.16 22.75 Deleterious 0 3.V 195 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.G1075A:p.D359N TEKT4:uc002stw.1:exon5:c.G1075A:p.D359N . . . 0.14553991 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.657 . @ . . . . . 1 0.854 . . 213.0 . . . . . . . . . . 0.3032 0.040 0.303 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.266 . . exonic exonic exonic . . 0.288 @ . . . 0.33 0.27 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.902 0.261 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.462 0.023 . . 37 . 0.543 . . 0.635 . . . 0.966 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.802 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 1 0.614 . . . . . 0.446 . 0.472 . LowAF 0 rs201902069 . . . . . . . . . . . . X.74 . ENST00000295201 II.45 II.45 . 0.000000 Q8WW24 . . . . . 0.471 . . II.45 0 4.07e-06 0 0 0 0 8.988e-06 0 0 . . . . . . . . . . 0.283 . 1.408 1.408000 . . 0.000000 . . 9.999999999999999E-196 1.000 0.715 . 0.108 0.689 . 0.641 . 0.284 1.408 0.562 . . . rs201902069 rs201902069 1 1538 10 1/0 0,198,255 +rs112108710 2 95541473 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95541473 95541473 Chr2(GRCh37):g.95541473C>T 1077 1077 NM_144705.3:c.1077C>T p.Asp359= p.Asp359Asp 5 -15 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 7.83425 0 Cryptic Acceptor Strongly Activated 95541478 1.0891 0.003958 66.0714 1.97435 0.008649 69.617 Tektin rs112108710 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 1 0 0 0 0 0 0 0 1 276374 23952 34386 10130 18862 30766 126118 25716 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.055 -0.440 D Asp GAC 0.539 D Asp GAT 0.461 359 193 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1077T:p.D359D TEKT4:uc002stw.1:exon5:c.C1077T:p.D359D . . . 0.1407767 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 206.0 . . . . . . . . . . 0.3457 . . . . . . . . 7.894e-06 . . . 0 1.12e-05 0 0 0 2.412e-05 0 0 0 9.551e-06 0 0 0 1.863e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.29 0.32 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.072e-06 0 0 0 0 0 0.0002 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs112108710 rs112108710 1 1538 10 1/0 0,199,255 +rs74658435 2 95542332 C A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542332 95542332 Chr2(GRCh37):g.95542332C>A 1126 1126 NM_144705.3:c.1126C>A p.Leu376Ile p.Leu376Ile 6 35 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.92851 0 Tektin rs74658435 yes no Frequency 1 C 0.000000 0 COSM5021307 Bone 0.001757 569 transversion C A C>A 0.543 -0.037 L Leu CTC 0.197 I Ile ATC 0.481 376 12 7 Frog 2 2 2 0 0 4.IX 5.II 111 111 5 C0 235.27 0.00 Tolerated 0.2 3.V 187 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.C1126A:p.L376I TEKT4:uc002stw.1:exon6:c.C1126A:p.L376I . . . 0.12820514 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.077 . @ . . . . . 1 0.079 . . 312.0 . . . . . . . . . . -1.1411 -1.136 -1.141 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.021 . . exonic exonic exonic . . 0.192 @ . . . 0.25 0.3 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . 0.334 . . . . T 0.049 0.002 . . 37 . 0.010 . . 0.497 . . . 0.192 0.234 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.282 . . 0.285 . . . . . . 1 0.010 . . . . . 0.263 . 0.480 . LowAF 0.94 . . . . . . . . . . . . . VII.52 . ENST00000295201 II.43 1.V . 1.000000 Q8WW24 . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.208 . 1.049 1.049000 . . 1.000000 . . 1.0E-187 0.001 0.137 . 0.165 0.975 . 0.079 . 0.270 1.049 0.542 . . . rs74658435 rs74658435 1 1538 10 1/0 0,179,255 +rs199984547 2 95542340 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95542340 95542340 Chr2(GRCh37):g.95542340A>G 1134 1134 NM_144705.3:c.1134A>G p.Ala378= p.Ala378Ala 6 43 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 6.11166 0 Cryptic Acceptor Strongly Activated 95542339 3.96118 0.012637 79.9154 4.85699 0.024382 79.9154 Tektin rs199984547 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.685 -1.167 A Ala GCA 0.226 A Ala GCG 0.107 378 204 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.A1134G:p.A378A TEKT4:uc002stw.1:exon6:c.A1134G:p.A378A . . . 0.16828479 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 309.0 . . . . . . . . . . 0.6096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.31 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs199984547 rs199984547 1 1538 10 1/0 0,183,255 +rs114977368 2 95542346 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95542346 95542346 Chr2(GRCh37):g.95542346A>G 1140 1140 NM_144705.3:c.1140A>G p.Arg380= p.Arg380Arg 6 49 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.32397 0 Tektin rs114977368 yes no Frequency 1 A 0.000000 0 COSM4316388|COSM4316388 Large intestine|Bone 0.000443|0.001757 2257|569 transition A G A>G 0.984 0.205 R Arg CGA 0.110 R Arg CGG 0.207 380 207 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.A1140G:p.R380R TEKT4:uc002stw.1:exon6:c.A1140G:p.R380R . . . 0.19536424 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 302.0 . . . . . . . . . . 1.0386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.3 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs114977368 rs114977368 1 1538 10 1/0 0,187,251 +rs112631866 2 95542363 C G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542363 95542363 Chr2(GRCh37):g.95542363C>G 1157 1157 NM_144705.3:c.1157C>G p.Ala386Gly p.Ala386Gly 6 66 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.06074 0 Tektin rs112631866 yes no Frequency 1 C 0.000000 0 COSM292336|COSM292336|COSM292336 Large intestine|Haematopoietic and lymphoid tissue|Bone 0.000886|0.000278|0.001757 2257|3598|569 transversion C G C>G 1.000 3.676 A Ala GCG 0.107 G Gly GGG 0.250 386 12 10 Fruitfly 0 0 0 0 0.74 8.I 9 31 3 60 C0 209.31 0.00 Deleterious 0.04 3.V 236 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.C1157G:p.A386G TEKT4:uc002stw.1:exon6:c.C1157G:p.A386G . . . 0.26108375 . . @ 106 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.789 . @ . . . . . 1 0.657 . . 406.0 . . . . . . . . . . 0.2910 0.072 0.291 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.287 @ . . . 0.26 0.35 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.879 0.255 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . T 0.177 0.007 . . 37 . 0.195 . . 0.031 . . . 0.947 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.563 . . 0 0 0 0 0 0 . 0.596 . . 0.637 . . . . . . 1 0.555 . . . . . 0.441 . 0.603 . HET 0.02 . . . . . . . . . . . . . X.84 . ENST00000295201 II.43 II.43 . 0.000000 Q8WW24 . . . . . 0.276 . . II.43 . . . . . . . . . . . . . . . . . . . 0.208 . 1.049 1.049000 . . 0.000000 . . 1.0E-236 0.053 0.213 . 0.288 0.923 . 0.526 . 0.270 1.049 0.542 . . . rs112631866 rs112631866 1 1538 10 1/0 0,179,231 +rs201397911 2 95542376 G T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95542376 95542376 Chr2(GRCh37):g.95542376G>T 1170 1170 NM_144705.3:c.1170G>T p.Leu390= p.Leu390Leu 6 79 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.18567 0 Tektin rs201397911 no no 0 G 0.000000 0 COSM4133981|COSM4133981 Thyroid|Large intestine 0.001339|0.001772 747|2257 transversion G T G>T 0.992 1.335 L Leu CTG 0.404 L Leu CTT 0.129 390 236 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.G1170T:p.L390L TEKT4:uc002stw.1:exon6:c.G1170T:p.L390L . . . 0.25877193 . . @ 118 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 456.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.29 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs201397911 rs201397911 1 1538 10 1/0 0,174,230 +rs72817671 2 95542377 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542377 95542377 Chr2(GRCh37):g.95542377C>T 1171 1171 NM_144705.3:c.1171C>T p.Arg391Cys p.Arg391Cys 6 80 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.64429 0 Tektin rs72817671 yes no Frequency/1000G 2 C 0.000000 0 0.000323 0.000901 0.000090 0.000308 0.000121 0.000000 0.000414 0.000344 0.000743 0.000901 77 13 3 3 2 0 45 7 4 238428 14422 33174 9726 16560 30198 108642 20320 5386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 13 3 3 2 0 45 7 4 0 0 0 0 0 0 0 0 0 RF 72 Exomes COSM4133982|COSM4133982 Thyroid|Large intestine 0.004016|0.000886 747|2257 transition C T C>T 0.961 -0.037 R Arg CGC 0.190 C Cys TGC 0.552 391 12 8 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 254.51 0.00 Tolerated 0.08 3.V 244 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.C1171T:p.R391C TEKT4:uc002stw.1:exon6:c.C1171T:p.R391C . . . 0.28509718 . . @ 132 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.498 . @ . . . . . 1 0.332 . . 463.0 . . . . . . . . . . -0.5212 -0.513 -0.521 c . . . . . 2.794e-03 . . . 0.0045 0.0023 0.0012 0.0045 0 0.0024 0.0017 0.0012 0.0046 0.0018 0.0012 0.0052 0 0.0014 0.0032 0.0011 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.192 @ . . . 0.3 0.33 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.000 0.069 . . . . . . . Likely_benign . 0 . 0.197 . . . . T 0.060 0.003 . . 37 . 0.033 . . 0.398 . . . 0.734 0.458 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.754 . . 0 0 0 0 0 0 . 0.207 . . 0.170 . . . . . . 1 0.339 . . . . . 0.191 . 0.663 . HET 0.11 . . . . . . . . . . . . . 6.0949 0.022739 ENST00000295201 II.43 1.V . 0.050000 Q8WW24 . . . . . 0.090 . . . 0.0009 0.0003 9.043e-05 0.0003 0.0001 0.0003 0.0004 0.0007 0 . . . . . . . . . . 0.208 . 1.049 1.049000 . . 0.050000 . . 1.0000000000000001E-244 0.046 0.210 . 0.308 0.932 . 0.161 . 0.270 1.049 -0.609 . . rs72817671 rs72817671 rs72817671 1 1538 10 1/0 0,176,227 +rs142133592 2 95542416 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542416 95542416 Chr2(GRCh37):g.95542416A>G 1210 1210 NM_144705.3:c.1210A>G p.Ile404Val p.Ile404Val 6 119 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.76995 0 Tektin rs142133592 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245416 15284 33574 9842 17246 30758 111602 21640 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 72 Exomes COSM3933716|COSM3933716|COSM3933716|COSM3933716|COSM3933716 Urinary tract|Thyroid|Skin|Oesophagus|Large intestine 0.002976|0.002677|0.000812|0.000711|0.000443 672|747|1232|1406|2257 transition A G A>G 0.992 3.030 I Ile ATT 0.356 V Val GTT 0.178 404 12 10 Fruitfly 3 3 4 0 0 5.II 5.IX 111 84 29 C0 234.77 XI.33 Tolerated 0.06 3.V 253 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.A1210G:p.I404V TEKT4:uc002stw.1:exon6:c.A1210G:p.I404V . . . 0.31439394 . . @ 166 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.351 . @ . . . . . 1 0.847 . . 528.0 . . . . . . . . . . 0.1781 0.012 0.178 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.038 . . exonic exonic exonic . . 0.287 @ . . . 0.29 0.35 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.274 0.189 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.090 0.004 . . 37 . 0.150 . . 0.009 . . . 0.718 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.249 . . 0 0 0 0 0 0 . 0.544 . . 0.550 . . . . . . 1 0.531 . . . . . 0.313 . 0.609 . HET 0.03 . . . . . . . . . . . . . 8.354 . ENST00000295201 II.43 II.43 . 0.050000 Q8WW24 . . . . . 0.379 . . II.43 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.450 . 0.866 0.866000 . . 0.050000 . . 1.0E-253 0.967 0.338 . 0.269 0.851 . 0.446 . 0.274 0.866 0.649 . . . rs142133592 rs142133592 1 1538 10 1/0 0,173,223 +rs75603622 2 95542419 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542419 95542419 Chr2(GRCh37):g.95542419G>A 1213 1213 NM_144705.3:c.1213G>A p.Ala405Thr p.Ala405Thr 6 122 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.76995 0 Tektin rs75603622 yes no Frequency/1000G 2 G 0.000000 0 0.011582 0.004500 0.024500 0.017900 0.005000 0.007200 0.000110 0.000084 0.000000 0.000000 0.000164 0.000066 0.000032 0.000804 0.000000 0.000804 30 2 0 0 3 2 4 19 0 271904 23794 34108 10102 18296 30414 125152 23638 6400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 2 0 0 3 2 4 19 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4316390|COSM4316390|COSM4316390|COSM4316390 Thyroid|Skin|Liver|Large intestine 0.002677|0.001623|0.000422|0.001772 747|1232|2371|2257 transition G A G>A 0.480 -1.247 A Ala GCC 0.403 T Thr ACC 0.361 405 12 9 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 244.02 0.00 Tolerated 0.33 3.V 255 PASS . . . . . 0.0045 0.012 0.0072 0.018 0.005 0.025 ENSG00000163060:ENST00000295201:exon6:c.G1213A:p.A405T TEKT4:uc002stw.1:exon6:c.G1213A:p.A405T . . . 0.32592592 . . @ 176 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.153 . @ . . . . . 1 0.206 . . 540.0 . . . . . . . . . . -1.1757 -1.318 -1.176 c . . . . . 4.326e-03 . . . 0.0032 0.0042 0.0047 0.0166 0.0014 0.0028 0.0060 0.0045 0.0026 0.0030 0.0045 0.0143 0.0008 0.0011 0.0030 0.0044 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.028 . . exonic exonic exonic . . 0.065 0.0116 . . . 0.26 0.26 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.002 0.089 . . . . . . . Likely_benign . 0 . 0.241 . . . . . . . . . 37 . 0.050 . . 0.427 . . . 0.928 0.228 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.102 . . 0.154 . . . . . . 1 0.303 . . . . . 0.234 . 0.459 . HET 0.15 . . . . . . . . . . . . . 6.926 . ENST00000295201 II.43 -2.21 . 0.490000 Q8WW24 . . . . . 0.036 . . . 0.0001 0.0001 0 0 0.0002 0.0009 3.629e-05 0 6.576e-05 0 0 0 0 0 0 0 0 . . 0.450 . -0.321 -0.321000 . . 0.490000 . . 1.0E-255 0.001 0.137 . 0.252 0.829 . 0.136 . 0.040 -0.321 0.562 . rs3209453 rs3209453 rs75603622 rs75603622 1 1538 10 1/0 0,174,221 +rs1052809 2 95542476 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542476 95542476 Chr2(GRCh37):g.95542476C>T 1270 1270 NM_144705.3:c.1270C>T p.Arg424Cys p.Arg424Cys 6 179 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.76995 0 Tektin rs1052809 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000471 0.000043 0.000059 0.000000 0.000164 0.000165 0.000163 0.004608 0.000000 0.004608 125 1 2 0 3 5 20 94 0 265488 23428 34034 10016 18274 30286 122770 20398 6282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 1 2 0 3 5 20 94 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM1632161|COSM1632161|COSM1632161|COSM1632161|COSM1632161|COSM1632161|COSM1632161|COSM1632161 Thyroid|Skin|Lung|Liver|Large intestine|Haematopoietic and lymphoid tissue|Cervix|Central nervous system 0.001339|0.003247|0.000838|0.000422|0.001329|0.000556|0.003040|0.001247 747|1232|2388|2371|2257|3598|329|2405 transition C T C>T 0.685 2.062 R Arg CGC 0.190 C Cys TGC 0.552 424 12 8 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 257.44 XI.33 Deleterious 0.04 3.V 255 PASS . . . . . . 0.0002 . . . 0.001 ENSG00000163060:ENST00000295201:exon6:c.C1270T:p.R424C TEKT4:uc002stw.1:exon6:c.C1270T:p.R424C . . . 0.32079646 . . @ 145 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.538 . @ . . . . . 1 0.408 . . 452.0 . . . . . . . . . . -0.3840 -0.456 -0.384 c . . . . . 3.734e-03 . . . 0.0055 0.0034 0.0008 0.0040 0.0017 0.0048 0.0031 0.0009 0.0060 0.0022 0.0006 0.0021 0.0009 0.0026 0.0015 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.287 0.0002 . . . 0.31 0.38 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.011 0.121 . . . . . . . Uncertain_significance . 0 . 0.374 . . . . T 0.101 0.004 . . 37 . 0.039 . . 0.499 . . . 0.461 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.751 . . 0 0 0 0 0 0 . 0.367 . . 0.324 . . . . . . 1 0.301 . . . . . 0.441 . 0.600 . HET 0 . . 0.007 . . . . . . . . . . X.84 5.35E-4 ENST00000295201 II.43 II.43 . 0.130000 Q8WW24 . . . . . 0.147 . . II.43 6.794e-05 0.0005 6.024e-05 0 0.0002 0.0056 0.0002 0 0.0002 0 0 0 0 0 0 0 0 . . 0.450 . 1.049 1.049000 . . 0.130000 . . 1.0E-255 0.091 0.224 . 0.252 0.989 . 0.355 . 0.270 1.049 0.542 . rs1052809 rs1052809 rs1052809 rs1052809 1 1538 10 1/0 0,182,239 +rs148482144 2 95780952 T C - MRPS5 14498 Mitochondrial ribosomal protein S5 NM_031902.4 -1 3495 1293 NP_114108.1 P82675 substitution splice site GRCh37 95780952 95780952 Chr2(GRCh37):g.95780952T>C 140-4 140-4 NM_031902.4:c.140-4A>G p.? p.? 3 2 611972 -4 3' 86.2708 10.0654 0.868749 5.85664 86.2708 X.83 0.761417 6.51083 -0.0238663 rs148482144 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001587 0.000127 0.000721 0.009878 0.000000 0.002498 0.001841 0.000120 0.001733 0.009878 396 3 19 81 0 62 218 3 10 249586 23628 26360 8200 17410 24822 118410 24986 5770 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 394 3 19 81 0 62 216 3 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4406 12989 17 0 17 0.00197674 0 0.00130709 0.00197674 0 0.00130709 142 transition A G A>G 0.000 -2.458 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.41509435 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . INTRON(MODIFIER||||MRPS5|mRNA|CODING|NM_031902|) . 0.0013 0.002 . 0.0013 0.002 . -0.1894 . . . . . . . . 1.634e-03 . . . 0.0002 0.0020 0.0005 0 0 0.0030 0.0060 0.0028 0.0002 0.0016 0.0004 0 0.0002 0.0022 0.0062 0.0026 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.57 0.27 182 ENSG00000144029 MRPS5 MRPS5 . . . . . . 58 0.000892637 64976 56 0.000933551 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148482144 . . . . . . . . . . . . . . . . . . . . 0 0.124 . 0.001307 . . . . . 6.712e-05 0.0017 0.0007 0.0096 0 0.0001 0.0019 0.0019 0.0025 0.0002 0.0010 0.0012 0.0166 0 0 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs148482144 rs148482144 1 1538 10 1/0 0,253,255 +rs62155081 2 96143068 G A - TRIM43B 37146 Tripartite motif-containing 43B NM_001164464.1 -1 1668 1341 NP_001157936.1 A6NCK2 substitution synonymous exon GRCh37 96143068 96143068 Chr2(GRCh37):g.96143068G>A 1185 1185 NM_001164464.1:c.1185C>T p.Tyr395= p.Tyr395Tyr 7 326 3' 92.4587 9.35911 0.970892 6.30045 92.4587 9.35911 0.970892 6.30045 0 Cryptic Acceptor Weakly Activated 96143063 5.72562 0.722736 73.7081 5.44273 0.847407 77.2537 rs62155081 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.000 -0.763 Y Tyr TAC 0.562 Y Tyr TAT 0.438 395 255 PASS . . . . . . . . . . . . TRIM43B:uc021vle.1:exon7:c.C1185T:p.Y395Y TRIM43B:NM_001164464:exon7:c.C1185T:p.Y395Y . . 0.33333334 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 60.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y395|TRIM43B|mRNA|CODING|NM_001164464|NM_001164464.ex.7) . . . . . . . -0.6572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.67 0.33 182 ENSG00000144010 TRIM43B TRIM43B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62155081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62155081 rs62155081 rs62155081 rs62155081 1 1538 10 1/0 0,255,255 +. 2 96145119 C T - TRIM43B 37146 Tripartite motif-containing 43B NM_001164464.1 -1 1668 1341 NP_001157936.1 A6NCK2 substitution intron GRCh37 96145119 96145119 Chr2(GRCh37):g.96145119C>T 761+15 761+15 NM_001164464.1:c.761+15G>A p.? p.? 5 5 15 5' 89.5197 9.78772 0.991198 1.50356 89.5197 9.78772 0.991198 1.56367 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 17394 Exomes transition G A G>A 0.000 -1.328 240 PASS . . . . . . . . . . . . . . . . 0.2777778 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||TRIM43B|mRNA|CODING|NM_001164464|) . . . . . . . -0.8055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000144010 TRIM43B TRIM43B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . 0 . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62155084 2 96146340 G A - TRIM43B 37146 Tripartite motif-containing 43B NM_001164464.1 -1 1668 1341 NP_001157936.1 A6NCK2 substitution intron GRCh37 96146340 96146340 Chr2(GRCh37):g.96146340G>A 508-57 508-57 NM_001164464.1:c.508-57C>T p.? p.? 4 3 -57 3' 89.6741 7.15101 0.938016 6.07123 89.6741 7.15101 0.938016 6.00367 0 rs62155084 no no 0 G 0.000000 0 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30862 8696 832 302 1614 0 14964 3482 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition C T C>T 0.000 0.044 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||TRIM43B|mRNA|CODING|NM_001164464|) . . . . . . . -0.4258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.42 0.33 182 ENSG00000144010 TRIM43B TRIM43B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62155084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.24e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs62155084 rs62155084 rs62155084 rs62155084 1 1538 10 1/0 0,255,255 +rs200056770 2 96263114 G A - TRIM43 19015 Tripartite motif containing 43 NM_138800.2 1 1675 1341 NP_620155.1 Q96BQ3 substitution intron GRCh37 96263114 96263114 Chr2(GRCh37):g.96263114G>A 761+15 761+15 NM_138800.2:c.761+15G>A p.? p.? 5 5 15 5' 89.5197 9.78772 0.991198 1.50356 89.5197 9.78772 0.991198 1.56367 0 rs200056770 yes no Frequency/1000G 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.247 249 PASS 0.16 0.21 0.27 0.22 0.21 . . . . . . . . . . . 0.30769232 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||TRIM43|mRNA|CODING|NM_138800|) . . . . . . . -0.6460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.34 182 ENSG00000144015 TRIM43 TRIM43 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200056770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.27 . . rs200056770 rs200056770 1 1538 10 1/0 0,255,255 +rs62155738 (chr2:96459019 G/A) 2 96459019 G A Not on a known gene +rs200783792 2 96516928 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96516928 96516928 Chr2(GRCh37):g.96516928C>T 6427 6427 NM_001310154.1:c.6427G>A p.Glu2143Lys p.Glu2143Lys 88 -15 5' 89.5197 9.78772 0.981514 1.65989 89.5197 9.78772 0.981514 0.950523 0 rs200783792 yes no Frequency 1 C 0.000000 0 0.000006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 1 0 0 0 0 0 1 0 0 159384 10326 24420 8378 11220 22644 61622 16792 3982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 79 Exomes transition G A G>A 0.000 -0.924 E Glu GAG 0.583 K Lys AAG 0.575 2143 12 2 Chimp 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 1 3.V 197 PASS . . . . . . . . . . . ENSG00000174501:ENST00000456556:exon67:c.G5329A:p.E1777K . ANKRD36C:NM_001310154:exon88:c.G6427A:p.E2143K . . 0.15254237 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.177 . @ . . . . . 1 0.044 . . 59.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E2143K|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.88) . . . . . . . -1.3725 -1.516 -1.372 c . . . . . 8.882e-06 . . . 0 3.879e-05 0 0 0 0 0 0.0001 0 4.526e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV . nonsynonymous_SNV 0.402 . . exonic intergenic exonic . . 0.062 @ . . . 0.34 0.21 182 ENSG00000174501 . ANKRD36C . dist\x3d24199\x3bdist\x3d4828 . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.237 . . 0.227 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.308 . . . . . 0.104 . 0.094 . HET 0 rs200783792 . . . . . . . . . . . . IV.37 . ENST00000456556 1.II -2.4 . 0.040000 . . . . . . 0.052 . . . 0 6.274e-06 0 0 0 0 1.623e-05 0 0 . . . . . . . . . . 0.495 . -0.975 -0.975000 . . 0.040000 . . 1.0E-197 0.056 0.214 . 0.016 0.002 . 0.069 . 0.003 -0.975 -1.297 . rs2309084 rs2309084 rs2309084 rs200783792 1 1538 10 1/0 0,253,255 +rs201919453 2 96516929 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96516929 96516929 Chr2(GRCh37):g.96516929A>G 6426 6426 NM_001310154.1:c.6426T>C p.Phe2142= p.Phe2142Phe 88 15 3' 88.857 8.44615 0.894324 2.70162 88.857 8.44615 0.872023 3.15231 -0.00831205 rs201919453 yes no Frequency 1 A 0.000000 0 0.000006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 1 0 0 0 0 0 1 0 0 159302 10336 24406 8374 11218 22596 61602 16784 3986 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 79 Exomes transition T C T>C 0.000 -1.247 F Phe TTT 0.454 F Phe TTC 0.546 2142 201 PASS . . . . . . . . . . . ENSG00000174501:ENST00000456556:exon67:c.T5328C:p.F1776F . ANKRD36C:NM_001310154:exon88:c.T6426C:p.F2142F . . 0.16363636 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 55.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F2142|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.88) . . . . . . . -0.4336 . . . . . . . . 8.882e-06 . . . 0 3.877e-05 0 0 0 0 0 0.0001 0 4.523e-05 0 0 0 0 0 0.0001 synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.36 0.18 182 ENSG00000174501 . ANKRD36C . dist\x3d24200\x3bdist\x3d4827 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201919453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.277e-06 0 0 0 0 1.623e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . rs2871115 rs2871115 rs2871115 rs201919453 1 1538 10 1/0 0,255,255 +rs200495971 2 96516971 T A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96516971 96516971 Chr2(GRCh37):g.96516971T>A 6412-28 6412-28 NM_001310154.1:c.6412-28A>T p.? p.? 88 87 -28 3' 88.857 8.44615 0.894324 2.70162 88.857 8.44615 0.894324 2.98125 0 rs200495971 no no 0 T 0.000000 0 transversion A T A>T 0.256 0.044 210 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.0314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.5 0.15 182 ENSG00000174501 . ANKRD36C . dist\x3d24242\x3bdist\x3d4785 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200495971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs200495971 rs200495971 1 1538 10 1/0 0,255,255 +rs62156864 2 96517012 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96517012 96517012 Chr2(GRCh37):g.96517012T>C 6412-69 6412-69 NM_001310154.1:c.6412-69A>G p.? p.? 88 87 -69 3' 88.857 8.44615 0.894324 2.70162 88.857 8.44615 0.894324 2.89599 0 96517012 -83.139 rs62156864 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30524 8616 834 300 1612 0 14764 3428 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition A G A>G 0.063 0.286 243 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.2741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.46 0.14 182 ENSG00000174501 . ANKRD36C . dist\x3d24283\x3bdist\x3d4744 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62156864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . rs62156864 rs62156864 rs62156864 rs201997194 1 1538 10 1/0 0,255,255 +rs192754800 2 96517025 A T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96517025 96517025 Chr2(GRCh37):g.96517025A>T 6412-82 6412-82 NM_001310154.1:c.6412-82T>A p.? p.? 88 87 -82 3' 88.857 8.44615 0.894324 2.70162 88.857 8.44615 0.894324 2.81568 0 96517026 -5.96791 rs192754800 no no 0 A 0.000000 0 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30870 8732 836 300 1620 0 14916 3492 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T A T>A 0.134 0.286 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.2670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.47 0.12 182 ENSG00000174501 . ANKRD36C . dist\x3d24296\x3bdist\x3d4731 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs192754800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.239e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs192754800 rs192754800 1 1538 10 1/0 0,253,255 +rs79524470 2 96517503 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96517503 96517503 Chr2(GRCh37):g.96517503A>G 6350 6350 NM_001310154.1:c.6350T>C p.Ile2117Thr p.Ile2117Thr 87 33 3' 70.7776 4.79558 0.419292 0 70.7776 4.79558 0.419292 0 0 rs79524470 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.000 -0.279 I Ile ATT 0.356 T Thr ACT 0.243 2117 12 2 Chimp -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 1 3.II 193 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon87:c.T6350C:p.I2117T . . 0.14285715 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.003 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I2117T|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.87) . . . . . . . -1.5291 -1.654 -1.529 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.301 . . exonic intergenic exonic . . 0.078 @ . . . 0.32 0.29 182 ENSG00000174501 . ANKRD36C . dist\x3d24774\x3bdist\x3d4253 . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.106 . . 0.325 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.061 . 0.030 . LowAF 1 rs79524470 . . . . . . . . . . . . 3.1672 . . I.79 -1.67 . 0.960000 . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -0.493 -0.493000 . . 0.960000 . . 1.0E-193 0.023 0.197 . 0.016 0.000 . 0.323 . 0.011 -0.493 -0.988 . . . rs79524470 rs79524470 1 1538 10 1/0 0,255,255 +rs62156872 2 96517885 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96517885 96517885 Chr2(GRCh37):g.96517885G>A 6306 6306 NM_001310154.1:c.6306C>T p.Gly2102= p.Gly2102Gly 86 -12 5' 70.0768 1.17743 0.225419 0 70.0768 1.17743 0.225419 0 0 Cryptic Donor Strongly Activated 96517887 67.7271 6.99701 0.146446 77.6162 rs62156872 yes no Frequency/1000G 2 G 0.000000 0 0.006390 0.004500 0.003100 0.013900 0.003000 0.008600 0.000860 0.000088 0.000237 0.001097 0.000163 0.000033 0.001604 0.000040 0.001444 0.001604 232 2 8 11 3 1 197 1 9 269662 22726 33816 10030 18446 30302 122818 25290 6234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 232 2 8 11 3 1 197 1 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.328 G Gly GGC 0.342 G Gly GGT 0.162 2102 255 PASS . . . . . 0.0045 0.0064 0.0086 0.014 0.003 0.0031 . . ANKRD36C:NM_001310154:exon86:c.C6306T:p.G2102G . . 0.5505618 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G2102|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.86) . . . . . . . -0.3548 . . . . . . . . 3.247e-04 . . . 0.0001 0.0002 0.0002 0 0 0.0003 0 0.0003 0.0001 8.968e-05 0.0002 0 0 3.882e-05 0 0.0003 synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.0064 . . . 0.29 0.29 182 ENSG00000174501 . ANKRD36C . dist\x3d25156\x3bdist\x3d3871 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62156872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.234e-05 3.022e-05 0 0 0 9.08e-06 0 3.3e-05 0.0003 0.0086 0.0097 0.0458 0.0021 0.0003 0.0155 0.0106 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62156872 rs62156872 rs62156872 rs62156872 1 1538 10 1/0 0,255,255 +rs77129683 2 96517893 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96517893 96517893 Chr2(GRCh37):g.96517893T>C 6298 6298 NM_001310154.1:c.6298A>G p.Met2100Val p.Met2100Val 86 -20 5' 70.0768 1.17743 0.225419 0 70.0768 1.17743 0.225419 0 0 rs77129683 yes no Frequency 1 T 0.000000 0 0.000561 0.000000 0.000206 0.000796 0.000053 0.000000 0.001072 0.000000 0.000634 0.001072 153 0 7 8 1 0 133 0 4 272552 23532 33990 10046 18704 30430 124102 25442 6306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 153 0 7 8 1 0 133 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 0.044 M Met ATG 1.000 V Val GTG 0.468 2100 12 4 Rat 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 353.86 0.00 Tolerated 0.09 3.II 214 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon86:c.A6298G:p.M2100V . . 0.1978022 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.029 . @ . . . . . 1 0.019 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M2100V|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.86) . . . . . . . -0.8115 -0.978 -0.812 c . . . . . 1.029e-04 . . . 0 0.0001 0.0002 0 0 0.0001 0 0.0002 0 4.956e-05 0.0002 0 0 0 0 0.0002 nonsynonymous_SNV . nonsynonymous_SNV 0.361 . . exonic intergenic exonic . . 0.173 @ . . . 0.22 0.27 182 ENSG00000174501 . ANKRD36C . dist\x3d25164\x3bdist\x3d3863 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.206 . . 0.215 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.383 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.574 . . . . . 0.050 . 0.156 . HET 0.02 rs77129683 . . . . . . . . . . . . II.28 . . I.97 0.723 . 0.150000 . . . . . . 0.046 . . . 0 8.2e-06 6.022e-05 0 0 0 0 0 0 0 0.0053 0.0064 0.0312 0.0006 0 0.0098 0.0045 . . 0.465 . 0.195 0.195000 . . 0.150000 . . 1.0E-214 0.000 0.063 . 0.043 0.002 . 0.203 . 0.089 0.195 -0.552 . . . rs77129683 rs77129683 1 1538 10 1/0 0,239,255 +rs80041617 2 96517905 A T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96517905 96517905 Chr2(GRCh37):g.96517905A>T 6286 6286 NM_001310154.1:c.6286T>A p.Cys2096Ser p.Cys2096Ser 86 -32 5' 70.0768 1.17743 0.225419 0 70.0768 1.17743 0.225419 0 0 rs80041617 yes no Frequency 1 A 0.000000 0 0.000370 0.000000 0.000147 0.000596 0.000000 0.000000 0.000709 0.000000 0.000317 0.000709 101 0 5 6 0 0 88 0 2 272610 23504 34000 10060 18682 30430 124160 25466 6308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 0 5 6 0 0 88 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.044 C Cys TGT 0.448 S Ser AGT 0.149 2096 12 5 Platypus -1 -1 -2 II.75 I.42 5.V 9.II 55 32 112 C0 353.86 0.00 Tolerated 0.41 3.II 218 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon86:c.T6286A:p.C2096S . . 0.20930232 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.015 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Agt|C2096S|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.86) . . . . . . . -0.8951 -1.060 -0.895 c . . . . . 2.376e-05 . . . 0 1.168e-05 9.222e-05 0 0 0 0 0 0 9.936e-06 9.502e-05 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.346 . . exonic intergenic exonic . . 0.171 @ . . . 0.22 0.26 182 ENSG00000174501 . ANKRD36C . dist\x3d25176\x3bdist\x3d3851 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.220 . . 0.301 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.721 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.327 . . . . . 0.198 . 0.301 . HET 0.12 rs80041617 . . . . . . . . . . . . VI.65 . . I.97 0.686 . 0.730000 . . . . . . 0.044 . . . 0 2.049e-05 6.02e-05 0 0 0 2.713e-05 0 0 0 0.0034 0.0039 0.0233 0 0 0.0063 0.0022 . . 0.465 . 0.187 0.187000 . . 0.730000 . . 1.0E-218 0.000 0.063 . 0.126 0.012 . 0.082 . 0.298 0.187 0.804 . . . rs80041617 rs80041617 1 1538 10 1/0 0,243,255 +rs76809881 2 96517960 T A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96517960 96517960 Chr2(GRCh37):g.96517960T>A 6247-16 6247-16 NM_001310154.1:c.6247-16A>T p.? p.? 86 85 -16 3' 83.1765 8.77217 0.917489 3.80648 83.1765 9.28851 0.966559 IV.82 0.0374482 Cryptic Acceptor Weakly Activated 96517944 8.77217 0.917489 83.1765 9.28851 0.966559 83.1765 96517960 -72.1123 rs76809881 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 262646 22834 33030 9886 17996 29196 118402 25170 6132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.7169811 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.5007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.28 0.14 182 ENSG00000174501 . ANKRD36C . dist\x3d25231\x3bdist\x3d3796 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76809881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76809881 rs76809881 1 1538 10 1/0 0,255,255 +rs78607440 2 96519500 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96519500 96519500 Chr2(GRCh37):g.96519500C>T 6203 6203 NM_001310154.1:c.6203G>A p.Gly2068Glu p.Gly2068Glu 85 -44 5' 77.6903 7.44314 0.941382 III.58 77.6903 7.44314 0.941382 4.14873 0 rs78607440 no no 0 C 0.000000 0 transition G A G>A 0.047 0.286 G Gly GGG 0.250 E Glu GAG 0.583 2068 12 2 Chimp -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 1 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.G6203A:p.G2068E . . 0.3846154 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.008 . . 39.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G2068E|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . -1.3010 -1.289 -1.301 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.245 . . exonic intergenic exonic . . 0.186 @ . . . 0.5 0.35 182 ENSG00000174501 . ANKRD36C . dist\x3d26771\x3bdist\x3d2256 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.044 . . 0.393 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.101 . 0.083 . HET 1 rs78607440 . . . . . . . . . . . . IV.78 . . II.19 0.945 . 1.000000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.465 . 0.106 0.106000 . . 1.000000 . . 1.0E-255 0.321 0.253 . 0.083 0.175 . 0.417 . 0.080 0.106 -0.520 . . . rs75297663 rs75297663 1 1538 10 1/0 0,255,255 +rs79910693 2 96519520 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96519520 96519520 Chr2(GRCh37):g.96519520G>A 6183 6183 NM_001310154.1:c.6183C>T p.His2061= p.His2061His 85 -64 5' 77.6903 7.44314 0.941382 III.58 77.6903 7.44314 0.941382 3.22293 0 Cryptic Acceptor Strongly Activated 96519506 4.35115 0.310341 73.6834 5.33792 0.329624 76.4563 rs79910693 yes no Frequency/1000G 2 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222296 14096 31084 9430 15696 28066 97790 21104 5030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 55 Exomes transition C T C>T 0.000 -0.037 H His CAC 0.587 H His CAT 0.413 2061 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.C6183T:p.H2061H . . 0.34 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H2061|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . -0.0027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.0002 . . . 0.46 0.35 182 ENSG00000174501 . ANKRD36C . dist\x3d26791\x3bdist\x3d2236 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79910693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.499e-06 0 0 0 0 1.023e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2109985 rs2109985 rs2109985 rs2109985 1 1538 10 1/0 0,255,255 +. 2 96519558 ATCGT A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 deletion frameshift exon GRCh37 96519559 96519562 Chr2(GRCh37):g.96519559_96519562del 6141 6144 NM_001310154.1:c.6141_6144del p.Lys2047Asnfs*18 p.Lys2047Asnfs*18 85 48 3' 79.7969 3.68348 0.022811 0 79.7969 3.68348 0.022811 0 0 Cryptic Acceptor Strongly Activated 96519554 52.0227 1.96764 3,00E-06 70.4493 rs373126569 no no 0 0.000000 0 ACGA 255 Pass . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.6141_6144del:p.K2047fs . . 0.30612245 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 49 . . FRAME_SHIFT(HIGH||||ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . frameshift_deletion . . . exonic intergenic exonic . . . . . . . . . . ENSG00000174501 . ANKRD36C . dist\x3d26830\x3bdist\x3d2194 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373126569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs373126569 rs373126569 1 1538 10 1.I 0,10,51 +rs78552738 2 96519587 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96519587 96519587 Chr2(GRCh37):g.96519587T>C 6116 6116 NM_001310154.1:c.6116A>G p.Gln2039Arg p.Gln2039Arg 85 23 3' 79.7969 3.68348 0.022811 0 79.7969 3.68348 0.022811 0 0 rs78552738 no no 0 T 0.000000 0 transition A G A>G 0.992 1.255 Q Gln CAA 0.256 R Arg CGA 0.110 2039 12 10 Zebrafish 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 353.86 0.00 Deleterious 0 3.II 246 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.A6116G:p.Q2039R . . 0.29787233 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.150 . @ . . . . . 1 0.148 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q2039R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . -0.2333 -0.288 -0.233 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.471 . . exonic intergenic exonic . . 0.268 @ . . . 0.61 0.39 182 ENSG00000174501 . ANKRD36C . dist\x3d26858\x3bdist\x3d2169 . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.384 . . 0.301 . . . . 0.279 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.576 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.309 . . . . . 0.201 . 0.240 . HET 0 rs78552738 . . . . . . . . . . . . VI.23 . . II.19 II.19 . 0.350000 . . . . . . 0.305 . . II.19 . . . . . . . . . . . . . . . . . . . 0.465 . 1.021 1.021000 . . 0.350000 . . 1.0E-246 1.000 0.715 . 0.200 0.339 . 0.530 . 0.280 1.021 0.755 . rs4063054 rs4063054 rs4063054 rs4063054 1 1538 10 1/0 0,255,255 +rs56121945 2 96519588 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution stop gain exon GRCh37 96519588 96519588 Chr2(GRCh37):g.96519588G>A 6115 6115 NM_001310154.1:c.6115C>T p.Gln2039* p.Gln2039* 85 22 3' 79.7969 3.68348 0.022811 0 79.7969 3.68348 0.022811 0 0 rs56121945 no no 0 G 0.000000 0 transition C T C>T 0.992 1.497 Q Gln CAA 0.256 * * TAA 0.277 2039 253 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.C6115T:p.Q2039X . . 0.31914893 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.968 . @ . . . . . 0 0.416 . . 47.0 . . STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q2039*|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . 0.5210 0.224 0.521 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . stopgain . . . exonic intergenic exonic . . 0.268 @ . . . 0.57 0.33 182 ENSG00000174501 . ANKRD36C . dist\x3d26859\x3bdist\x3d2168 . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.287 . . . HET 0 rs56121945 . . . . . . . . . . . . VII.83 . . II.19 II.19 . 0.200000 . . . . . . 0.307 . . II.19 . . . . . . . . . . . . . . . . . . . 0.465 . 1.239 1.239000 . . 0.200000 . . 1.0E-253 1.000 0.715 . 0.209 0.372 . 0.481 . 0.280 1.239 0.697 . rs4063025 rs4063025 rs4063025 rs4063025 1 1538 10 1/0 0,255,255 +rs138370118 2 96521046 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521046 96521046 Chr2(GRCh37):g.96521046A>G 6061 6061 NM_001310154.1:c.6061T>C p.Cys2021Arg p.Cys2021Arg 84 -33 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.74012 0 rs138370118 yes no Frequency 1 A 0.000000 0 0.000226 0.000519 0.000456 0.000215 0.000060 0.000637 0.000070 0.000043 0.000528 0.000637 55 11 13 2 1 16 8 1 3 243622 21182 28504 9304 16622 25110 113956 23260 5684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 11 13 2 1 16 8 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.044 C Cys TGC 0.552 R Arg CGC 0.190 2021 12 5 Rat -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 353.86 0.00 Tolerated 0.32 3.II 208 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T6061C:p.C2021R . . 0.18518518 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.012 . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C2021R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.2862 -1.444 -1.286 c . . . . . 3.252e-04 . . . 0.0004 0.0003 0 0 0.0012 0.0005 0 7.037e-05 0.0005 0.0004 0 0 0.0007 0.0005 0 7.078e-05 nonsynonymous_SNV . nonsynonymous_SNV 0.133 . . exonic downstream exonic . . 0.114 @ . . . 0.29 0.21 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.133 . . 0.384 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.824 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.142 . . . . . 0.183 . 0.030 . HET 0.15 rs138370118 . . . . . . . . . . . . V.32 . . 2.XI -0.487 . 0.570000 . . . . . . 0.103 . . . 0.0008 0.0002 0.0005 0.0002 6.653e-05 0 8.057e-05 0.0006 0.0006 0.0001 6.712e-05 0 0 0 0.0003 0 0 . . 0.484 . -0.114 -0.114000 . . 0.570000 . . 9.999999999999999E-209 0.978 0.348 . 0.016 0.169 . 0.328 . 0.003 -0.114 0.804 . . . rs138370118 rs138370118 1 1538 10 1/0 0,255,255 +rs2950724 2 96521049 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521049 96521049 Chr2(GRCh37):g.96521049T>C 6058 6058 NM_001310154.1:c.6058A>G p.Lys2020Glu p.Lys2020Glu 84 -36 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.33794 0 rs2950724 yes no Frequency 1 T 0.000000 0 0.000191 0.000411 0.000370 0.000210 0.000000 0.000468 0.000094 0.000000 0.000511 0.000468 48 9 11 2 0 12 11 0 3 251406 21886 29732 9532 17236 25622 117396 24126 5876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 9 11 2 0 12 11 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.328 K Lys AAA 0.425 E Glu GAA 0.417 2020 12 2 Chimp 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 1 3.II 208 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A6058G:p.K2020E . . 0.18518518 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.000 . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K2020E|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.8278 -1.934 -1.828 c . . . . . 2.617e-04 . . . 0.0004 0.0002 0 0 0.0012 0.0003 0 6.771e-05 0.0005 0.0003 0 0 0.0007 0.0005 0 6.81e-05 nonsynonymous_SNV . nonsynonymous_SNV 0.134 . . exonic downstream exonic . . 0.035 @ . . . 0.32 0.28 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.061 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.030 . . 0.339 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.079 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.026 . 0.078 . HET 0.29 rs2950724 . . . . . . . . . . . . 1.663 . . 2.I -4.2 . 1.000000 . . . . . . 0.027 . . . 0.0007 0.0002 0.0004 0.0002 0 0 9.753e-05 0.0006 0.0005 0 3.281e-05 0 0 0 0 6.729e-05 0 . . 0.484 . -1.364 -1.364000 . . 1.000000 . . 9.999999999999999E-209 0.370 0.257 . 0.016 0.160 . 0.071 . 0.003 -1.364 -0.143 . rs2950724 rs2950724 rs2950724 rs2950724 1 1538 10 1/0 0,255,255 +rs201490056 2 96521060 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521060 96521060 Chr2(GRCh37):g.96521060G>A 6047 6047 NM_001310154.1:c.6047C>T p.Ser2016Leu p.Ser2016Leu 84 -47 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 1.57159 0 rs201490056 yes no Frequency 1 G 0.000000 0 0.000181 0.000273 0.000820 0.000000 0.000059 0.000191 0.000067 0.000000 0.000168 0.000820 46 6 25 0 1 5 8 0 1 254312 22006 30486 9678 16986 26178 118604 24438 5936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 6 25 0 1 5 8 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.039 -0.037 S Ser TCG 0.056 L Leu TTG 0.127 2016 12 2 Chimp -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Tolerated 1 3.VII 181 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C6047T:p.S2016L . . 0.25 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.002 . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S2016L|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.5226 -1.482 -1.523 c . . . . . 1.980e-04 . . . 0.0001 0.0002 0.0012 0 0.0003 8.304e-05 0 0 0.0001 0.0002 0.0012 0 0.0002 0.0002 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.040 . . exonic downstream exonic . . 0.115 @ . . . 0.31 0.19 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.039 0.002 . . 37 . 0.009 . . 0.455 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.179 . 0.181 . HET 1 rs201490056 . . . . . . . . . . . . 5.867 . . 2.XI -0.462 . 1.000000 . . . . . . 0.024 . . . 0.0004 0.0002 0.0008 0 6.501e-05 0 7.693e-05 0.0002 0.0002 0 3.315e-05 0.0012 0 0 0 0 0 . . 0.484 . -0.093 -0.093000 . . 1.000000 . . 1.0E-181 1.000 0.715 . 0.111 0.355 . 0.430 . 0.066 -0.093 -0.489 . . . rs201490056 rs201490056 1 1538 10 1/0 0,255,255 +rs759222205 2 96521072 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521072 96521072 Chr2(GRCh37):g.96521072T>C 6035 6035 NM_001310154.1:c.6035A>G p.Glu2012Gly p.Glu2012Gly 84 -59 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 1.86902 0 rs759222205 yes no Frequency 1 T 0.000000 0 0.000121 0.000284 0.000231 0.000106 0.000061 0.000371 0.000047 0.000000 0.000000 0.000371 28 4 7 1 1 10 5 0 0 230472 14108 30280 9428 16304 26924 107008 21322 5098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 4 7 1 1 10 5 0 0 0 0 0 0 0 0 0 0 0 RF 60 Exomes transition A G A>G 0.000 0.528 E Glu GAA 0.417 G Gly GGA 0.246 2012 12 5 Rat -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Tolerated 0.07 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A6035G:p.E2012G . . 0.33333334 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.799 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E2012G|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.2895 -0.472 -0.290 c . . . . . 1.109e-04 . . . 0 5.882e-05 9.208e-05 0 0.0008 2.564e-05 0 0 0 0.0001 9.495e-05 0 0.0005 0.0001 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.179 . . exonic downstream exonic . . 0.179 @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.253 . . 0.207 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.909 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.599 . . . . . 0.161 . 0.298 . HET 0.07 rs759222205 . . . . . . . . . . . . V.24 . . 2.XI 0.82 . 0.000000 . . . . . . 0.309 . . . 0.0003 0.0001 0.0002 0.0001 6.133e-05 0 4.673e-05 0 0.0004 . . . . . . . . . . 0.484 . 0.213 0.213000 . . 0.000000 . . 1.0E-255 0.986 0.359 . 0.090 0.351 . 0.629 . 0.280 0.213 0.755 . . . . . 1 1538 10 1/0 0,255,255 +rs2950725 2 96521077 C G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521077 96521077 Chr2(GRCh37):g.96521077C>G 6030 6030 NM_001310154.1:c.6030G>C p.Val2010= p.Val2010Val 84 -64 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.03903 0 rs2950725 yes no Frequency 1 C 0.000000 0 0.000140 0.000215 0.000268 0.000213 0.000062 0.000452 0.000047 0.000047 0.000000 0.000452 32 3 8 2 1 12 5 1 0 228686 13984 29846 9368 16182 26526 106444 21272 5064 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 3 8 2 1 12 5 1 0 0 0 0 0 0 0 0 0 0 RF 61 Exomes transversion G C G>C 0.000 -0.117 V Val GTG 0.468 V Val GTC 0.240 2010 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G6030C:p.V2010V . . 0.36 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtC|V2010|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.2056 . . . . . . . . 1.109e-04 . . . 0 5.824e-05 9.116e-05 0 0.0008 2.527e-05 0 0 0 9.934e-05 9.4e-05 0 0.0005 0.0001 0 0 synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.33 0.17 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2950725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 0.0003 0.0002 6.18e-05 4.701e-05 4.697e-05 0 0.0005 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2950725 rs2950725 rs2950725 rs2950725 1 1538 10 1/0 0,255,255 +. 2 96521082 A T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521082 96521082 Chr2(GRCh37):g.96521082A>T 6025 6025 NM_001310154.1:c.6025T>A p.Leu2009Met p.Leu2009Met 84 -69 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.58255 0 Cryptic Donor Strongly Activated 96521080 1.75646 0.03953 70.847 3.53743 0.160876 74.6683 transversion T A T>A 0.039 0.448 L Leu TTG 0.127 M Met ATG 1.000 2009 12 10 Zebrafish 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 353.86 0.00 Deleterious 0 3.II 180 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T6025A:p.L2009M . . 0.115384616 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.372 . @ . . . . . 1 0.513 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Atg|L2009M|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.3932 -0.579 -0.393 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.309 . . exonic downstream exonic . . 0.181 @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.372 . . 0.306 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.425 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.721 . . . . . 0.125 . 0.382 . LowAF 0 . . . . . . . . . . . . . IV.15 . . 2.XI 0.863 . 0.080000 . . . . . . 0.273 . . . . . . . . . . . . . . . . . . . . . . 0.484 . 0.223 0.223000 . . 0.080000 . . 1.0E-180 0.998 0.411 . 0.074 0.082 . 0.299 . 0.284 0.223 0.804 . . . . . 1 1538 10 1/0 0,255,255 +rs200183690 2 96521090 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521090 96521090 Chr2(GRCh37):g.96521090T>C 6017 6017 NM_001310154.1:c.6017A>G p.Asn2006Ser p.Asn2006Ser 84 -77 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.01285 0 rs200183690 yes no Frequency 1 T 0.000000 0 0.000079 0.000129 0.000126 0.000000 0.000000 0.000073 0.000089 0.000040 0.000000 0.000129 21 3 4 0 0 2 11 1 0 264624 23168 31654 9778 18176 27546 123140 24984 6178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 3 4 0 0 2 11 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.016 0.044 N Asn AAT 0.464 S Ser AGT 0.149 2006 12 8 Tetraodon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.38 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A6017G:p.N2006S . . 0.35849056 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.178 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2006S|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.7333 -0.907 -0.733 c . . . . . 9.502e-05 . . . 0.0001 0.0001 0 0 0 0.0002 0 0 0.0001 7.765e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.168 . . exonic downstream exonic . . 0.107 @ . . . 0.36 0.23 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.198 . . 0.273 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.750 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.298 . . . . . 0.054 . 0.031 . HET 0.01 rs200183690 . . . . . . . . . . . . II.88 . . 2.XI -0.684 . 0.110000 . . . . . . 0.242 . . . 0.0002 8.131e-05 0.0001 0 0 4.652e-05 8.323e-05 0 7.261e-05 0 6.46e-05 0 0 0 0 0.0001 0 . . 0.484 . -0.143 -0.143000 . . 0.110000 . . 1.0E-255 0.998 0.411 . 0.043 0.068 . 0.269 . 0.016 -0.143 0.755 . . . rs200183690 rs200183690 1 1538 10 1/0 0,255,255 +rs756678939 2 96521094 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521094 96521094 Chr2(GRCh37):g.96521094C>T 6013 6013 NM_001310154.1:c.6013G>A p.Asp2005Asn p.Asp2005Asn 84 -81 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs756678939 yes no Frequency 1 C 0.000000 0 0.000017 0.000069 0.000032 0.000000 0.000000 0.000071 0.000000 0.000000 0.000000 0.000071 4 1 1 0 0 2 0 0 0 235480 14536 31252 9542 16648 28002 108638 21638 5224 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 64 Exomes transition G A G>A 0.000 0.044 D Asp GAC 0.539 N Asn AAC 0.536 2005 12 4 Olive baboon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.81 3.II 234 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G6013A:p.D2005N . . 0.2580645 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.263 . @ . . . . . 1 0.225 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2005N|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.7326 -0.838 -0.733 c . . . . . 5.543e-05 . . . 0.0001 4.54e-05 0 0 0 7.337e-05 0 0 0.0001 3.861e-05 0 0 0 5.647e-05 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.130 . . exonic downstream exonic . . 0.114 @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.056 . . 0.384 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.125 . . . . . 0.064 . 0.007 . HET 0.39 rs756678939 . . . . . . . . . . . . 3.267 . . 2.XI -0.491 . 0.240000 . . . . . . 0.071 . . . 6.879e-05 1.699e-05 3.2e-05 0 0 0 0 0 7.142e-05 . . . . . . . . . . 0.484 . -0.112 -0.112000 . . 0.240000 . . 1.0E-234 1.000 0.715 . 0.043 0.015 . 0.267 . 0.070 -0.112 -0.334 . . . . . 1 1538 10 1/0 0,255,255 +rs115953176 2 96521107 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521107 96521107 Chr2(GRCh37):g.96521107G>A 6000 6000 NM_001310154.1:c.6000C>T p.Leu2000= p.Leu2000Leu 84 -94 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs115953176 yes no Frequency/1000G 2 G 0.000000 0 0.000430 0.004466 0.000119 0.000000 0.000000 0.000102 0.000024 0.000000 0.000315 0.004466 117 105 4 0 0 3 3 0 2 272058 23512 33630 10056 18640 29454 125054 25360 6352 0.000007 0.000085 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 112 101 3 0 0 3 3 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.247 L Leu CTC 0.197 L Leu CTT 0.129 2000 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C6000T:p.L2000L . . 0.46666667 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 90.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L2000|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.4382 . . . . . . . . 4.673e-04 . . . 0.0056 0.0007 8.747e-05 0 0 4.844e-05 0 6.066e-05 0.0054 0.0005 9.022e-05 0 0 1.868e-05 0 6.101e-05 synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . 0.0571 . . . 0.37 0.27 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115953176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0049 0.0003 0.0001 0 0 0 1.815e-05 0.0002 0.0001 0.0037 0.0011 0 0 0 0 6.732e-05 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs115953176 rs115953176 1 1538 10 1/0 0,254,255 +rs200422439 2 96521337 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution stop gain exon GRCh37 96521337 96521337 Chr2(GRCh37):g.96521337G>A 5770 5770 NM_001310154.1:c.5770C>T p.Gln1924* p.Gln1924* 84 -324 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs200422439 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222528 13624 30600 9424 15680 29200 97598 21378 5024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 75 Exomes transition C T C>T 0.441 -0.117 Q Gln CAA 0.256 * * TAA 0.277 1924 207 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5770T:p.Q1924X . . 0.1767442 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.958 . @ . . . . . 0 0.271 . . 215.0 . . STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q1924*|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.2087 -0.162 0.209 c . . . . . 8.018e-06 . . . . . . . . . . . 0 1.329e-05 0 0 0 2.748e-05 0 0 stopgain . stopgain . . . exonic downstream exonic . . 0.128 @ . . . 0.28 0.16 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.140 . . . HET 0.01 rs200422439 . . . . . . . . . . . . 5.0932 . . 2.XI -0.115 . 0.280000 . . . . . . 0.258 . . . 0 4.494e-06 0 0 0 0 1.025e-05 0 0 . . . . . . . . . . 0.730 . -0.028 -0.028000 . . 0.280000 . . 1.0E-207 0.998 0.411 . 0.149 0.043 . 0.366 . 0.280 -0.028 0.697 . . . rs77121955 rs200422439 1 1538 10 1/0 0,200,255 +rs62156906 2 96521406 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521406 96521406 Chr2(GRCh37):g.96521406C>T 5701 5701 NM_001310154.1:c.5701G>A p.Gly1901Arg p.Gly1901Arg 84 -393 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs62156906 yes no Frequency 1 C 0.000000 0 0.000731 0.000378 0.000195 0.000437 0.000128 0.000431 0.000986 0.001603 0.001013 0.001603 158 5 6 4 2 12 95 29 5 216118 13222 30838 9158 15666 27836 96376 18086 4936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 158 5 6 4 2 12 95 29 5 0 0 0 0 0 0 0 0 0 RF 95 Exomes transition G A G>A 0.000 0.044 G Gly GGA 0.246 R Arg AGA 0.205 1901 12 2 Chimp -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.66 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G5701A:p.G1901R . . 0.61809045 . . @ 123 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.002 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1901R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.4380 -1.483 -1.438 c . . . . . 5.377e-03 . . . 0.0060 0.0035 0.0022 0.0039 0.0003 0.0040 0 0.0024 0.0039 0.0020 0.0018 0.0023 0.0007 0.0017 0 0.0025 nonsynonymous_SNV . nonsynonymous_SNV 0.104 . . exonic downstream exonic . . 0.116 @ . . . 0.26 0.2 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.004 0.001 . . 37 . 0.020 . . 0.439 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.167 . 0.047 . HET 0.96 rs62156906 . . . . . . . . . . . . V.16 . . 2.XI -0.429 . 1.000000 . . . . . . 0.005 . . . 0.0004 0.0007 0.0002 0.0004 0.0001 0.0016 0.0010 0.0010 0.0004 . . . . . . . . . . 0.310 . -0.104 -0.104000 . . 1.000000 . . 1.0E-255 0.005 0.169 . 0.247 0.029 . 0.320 . 0.107 -0.104 -1.513 . rs62156906 rs62156906 rs62156906 rs62156906 1 1538 10 1/0 0,235,238 +rs76822280 2 96521418 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521418 96521418 Chr2(GRCh37):g.96521418G>A 5689 5689 NM_001310154.1:c.5689C>T p.Leu1897Phe p.Leu1897Phe 84 -405 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 Cryptic Acceptor Strongly Activated 96521405 2.70759 0.016867 79.6357 3.00791 0.069658 82.7514 rs76822280 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243150 15014 33216 9796 17068 30606 110016 22036 5398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 77 Exomes transition C T C>T 0.087 0.286 L Leu CTC 0.197 F Phe TTC 0.546 1897 12 7 Frog 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.15 3.II 224 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5689T:p.L1897F . . 0.22325581 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.253 . . 215.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L1897F|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.4672 -0.619 -0.467 c . . . . . 1.834e-04 . . . 0.0003 8.265e-05 9.301e-05 0.0002 0 0 0 0.0001 0.0003 8.118e-05 9.593e-05 0.0001 0 3.996e-05 0 0.0001 nonsynonymous_SNV . nonsynonymous_SNV 0.184 . . exonic downstream exonic . . 0.144 @ . . . 0.27 0.2 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.165 . . 0.284 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.381 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.250 . . . . . 0.175 . 0.143 . HET 0.14 rs76822280 . . . . . . . . . . . . V.58 . . 2.XI 0.201 . 0.190000 . . . . . . 0.261 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . 0.031 0.031000 . . 0.190000 . . 1.0E-224 1.000 0.715 . 0.167 0.155 . 0.465 . 0.280 0.031 0.697 . . . rs76822280 rs76822280 1 1538 10 1/0 0,204,255 +rs74850719 2 96521438 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521438 96521438 Chr2(GRCh37):g.96521438A>G 5669 5669 NM_001310154.1:c.5669T>C p.Phe1890Ser p.Phe1890Ser 84 -425 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs74850719 yes no Frequency 1 A 0.000000 0 0.000016 0.000000 0.000120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000120 4 0 4 0 0 0 0 0 0 245336 15204 33428 9838 17200 30772 111222 22234 5438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 78 Exomes transition T C T>C 0.441 -0.440 F Phe TTC 0.546 S Ser TCC 0.220 1890 12 3 Olive baboon -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 353.86 0.00 Tolerated 0.57 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5669C:p.F1890S . . 0.63380283 . . @ 135 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.027 . . 213.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F1890S|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.6947 -1.772 -1.695 c . . . . . 1.595e-05 . . . 0 1.142e-05 8.925e-05 0 0 0 0 0 0 9.778e-06 9.201e-05 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.140 . . exonic downstream exonic . . 0.067 @ . . . 0.26 0.21 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.045 . . 0.445 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.527 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.049 . . . . . 0.248 . 0.157 . HET 0.04 rs74850719 . . . . . . . . . . . . 7.1853 . . 2.XI -2.14 . 0.620000 . . . . . . 0.062 . . . 0 1.63e-05 0.0001 0 0 0 0 0 0 . . . . . . . . . . 0.730 . -0.510 -0.510000 . . 0.620000 . . 1.0E-255 0.715 0.285 . 0.108 0.121 . 0.340 . 0.004 -0.510 -0.050 . . . rs74850719 rs74850719 1 1538 10 1/0 0,233,236 +. 2 96521448 C CA - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 duplication stop gain exon GRCh37 96521448 96521449 Chr2(GRCh37):g.96521449dup 5658 5658 NM_001310154.1:c.5658dup p.Glu1887* p.Glu1887* 84 -435 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs113448291 no no 0 0.000000 0 T 255 Pass . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.5658dupT:p.E1887_S1888delinsX . . 0.3287037 . . . 71 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 216 . . FRAME_SHIFT(HIGH||||ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . stopgain . . . exonic downstream exonic . . . . . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113448291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113448291 rs113448291 1 1538 10 1.I 0,11,48 +rs79980324 2 96521455 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521455 96521455 Chr2(GRCh37):g.96521455A>G 5652 5652 NM_001310154.1:c.5652T>C p.Ser1884= p.Ser1884Ser 84 -442 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs79980324 no no 0 A 0.000000 0 transition T C T>C 0.992 0.125 S Ser TCT 0.185 S Ser TCC 0.220 1884 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5652C:p.S1884S . . 0.60091746 . . @ 131 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 218.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S1884|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.5377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.27 0.23 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79980324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79980324 rs79980324 1 1538 10 1/0 0,232,239 +rs796858032 2 96521479 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521479 96521479 Chr2(GRCh37):g.96521479A>G 5628 5628 NM_001310154.1:c.5628T>C p.Val1876= p.Val1876Val 84 450 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs796858032 no no 0 A 0.000000 0 transition T C T>C 0.520 0.448 V Val GTT 0.178 V Val GTC 0.240 1876 211 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5628C:p.V1876V . . 0.18627451 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V1876|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.1561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +rs200660194 2 96521481 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521481 96521481 Chr2(GRCh37):g.96521481C>T 5626 5626 NM_001310154.1:c.5626G>A p.Val1876Ile p.Val1876Ile 84 448 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs200660194 no no 0 C 0.000000 0 transition G A G>A 0.000 -1.732 V Val GTT 0.178 I Ile ATT 0.356 1876 12 5 Tetraodon 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.35 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G5626A:p.V1876I . . 0.58115184 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.002 . . 191.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V1876I|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.2463 -1.432 -1.246 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.149 . . exonic downstream exonic . . 0.041 @ . . . 0.34 0.22 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.047 . . 0.304 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.093 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.096 . . . . . 0.002 . 0.118 . HET 0.55 rs200660194 . . . . . . . . . . . . 0.2453 . . I.87 -3.74 . 0.310000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.730 . -1.681 -1.681000 . . 0.310000 . . 1.0E-255 0.000 0.063 . 0.108 0.062 . 0.019 . 0.277 -1.681 -0.292 . . . rs200660194 rs200660194 1 1538 10 1/0 0,238,248 +rs201815665 2 96521483 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521483 96521483 Chr2(GRCh37):g.96521483T>C 5624 5624 NM_001310154.1:c.5624A>G p.His1875Arg p.His1875Arg 84 446 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs201815665 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.037 H His CAT 0.413 R Arg CGT 0.082 1875 12 2 Chimp 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Tolerated 0.25 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A5624G:p.H1875R . . 0.556701 . . @ 108 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.004 . . 194.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H1875R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.1507 -1.333 -1.151 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.134 . . exonic downstream exonic . . 0.097 @ . . . 0.38 0.3 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.142 . . 0.324 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.505 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.457 . . . . . 0.257 . 0.045 . HET 0.12 rs201815665 . . . . . . . . . . . . 7.354 . . I.87 -0.975 . 0.190000 . . . . . . 0.084 . . . . . . . . . . . . . . . . . . . . . . 0.730 . -0.210 -0.210000 . . 0.190000 . . 1.0E-255 0.051 0.212 . 0.016 0.017 . 0.328 . 0.007 -0.210 -0.143 . . . rs201815665 rs201815665 1 1538 10 1/0 0,235,248 +rs200108004 2 96521484 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521484 96521484 Chr2(GRCh37):g.96521484G>A 5623 5623 NM_001310154.1:c.5623C>T p.His1875Tyr p.His1875Tyr 84 445 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs200108004 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.198 H His CAT 0.413 Y Tyr TAT 0.438 1875 12 2 Chimp 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.21 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5623T:p.H1875Y . . 0.5561224 . . @ 109 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.110 . . 196.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H1875Y|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.0907 -1.276 -1.091 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.139 . . exonic downstream exonic . . 0.126 @ . . . 0.35 0.19 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.151 . . 0.276 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.603 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.506 . . . . . 0.194 . 0.147 . HET 0.05 rs200108004 . . . . . . . . . . . . 6.1552 . . I.87 -0.172 . 0.010000 . . . . . . 0.048 . . . . . . . . . . . . . . . . . . . . . . 0.730 . -0.371 -0.371000 . . 0.010000 . . 1.0E-255 0.052 0.213 . 0.016 0.008 . 0.220 . 0.002 -0.371 -1.941 . . . rs200108004 rs200108004 1 1538 10 1/0 0,235,248 +rs201100797 2 96521486 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521486 96521486 Chr2(GRCh37):g.96521486G>A 5621 5621 NM_001310154.1:c.5621C>T p.Ser1874Phe p.Ser1874Phe 84 443 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs201100797 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.682 S Ser TCT 0.185 F Phe TTT 0.454 1874 12 4 Olive baboon -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C0 353.86 0.00 Tolerated 0.71 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5621T:p.S1874F . . 0.55737704 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.001 . . 183.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S1874F|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.8323 -1.041 -0.832 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.130 . . exonic downstream exonic . . 0.066 @ . . . 0.34 0.23 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.102 . . 0.339 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.075 . . . . . 0.083 . 0.221 . HET 0.64 rs201100797 . . . . . . . . . . . . III.14 . . I.87 -2.16 . 0.100000 . . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.730 . -0.596 -0.596000 . . 0.100000 . . 1.0E-255 0.071 0.219 . 0.043 0.007 . 0.119 . 0.086 -0.596 -0.942 . . . rs201100797 rs201100797 1 1538 10 1/0 0,238,251 +rs796454200 2 96521487 A C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521487 96521487 Chr2(GRCh37):g.96521487A>C 5620 5620 NM_001310154.1:c.5620T>G p.Ser1874Ala p.Ser1874Ala 84 442 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs796454200 no no 0 A 0.000000 0 transversion T G T>G 0.110 0.690 S Ser TCT 0.185 A Ala GCT 0.263 1874 12 4 Olive baboon 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.56 3.II 234 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5620G:p.S1874A . . 0.25490198 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.161 . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Gct|S1874A|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.4644 -0.594 -0.464 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.139 . . exonic downstream exonic . . 0.244 @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.121 . . 0.317 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.117 . . . . . 0.075 . 0.202 . HET 0.79 . . . . . . . . . . . . . III.02 . . I.87 I.87 . 0.750000 . . . . . . 0.233 . . . . . . . . . . . . . . . . . . . . . . 0.730 . 1.118 1.118000 . . 0.750000 . . 1.0E-234 0.631 0.278 . 0.062 0.010 . 0.369 . 0.284 1.118 0.804 . . . . . 1 1538 10 1/0 0,210,255 +rs78536198 2 96521512 A C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521512 96521512 Chr2(GRCh37):g.96521512A>C 5595 5595 NM_001310154.1:c.5595T>G p.Cys1865Trp p.Cys1865Trp 84 417 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs78536198 no no 0 A 0.000000 0 transversion T G T>G 0.976 0.770 C Cys TGT 0.448 W Trp TGG 1.000 1865 12 2 Chimp -5 -2 -5 II.75 0.13 5.V 5.IV 55 170 215 C0 353.86 0.00 Tolerated 0.95 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5595G:p.C1865W . . 0.608871 . . @ 151 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.013 . . 248.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgT/tgG|C1865W|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.7964 -0.723 -0.796 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.110 . . exonic downstream exonic . . 0.188 @ . . . 0.36 0.28 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.051 0.003 . . 37 . 0.023 . . 0.414 . . . . 0.340 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.050 . . . . . 0.272 . 0.414 . HET 0.61 rs78536198 0.022 0.022 . . . . . . . . . . 7.621 . . I.87 0.974 . 0.450000 . . . . . . 0.046 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.354 0.354000 . . 0.450000 . . 1.0E-255 1.000 0.715 . 0.141 0.082 . 0.440 . 0.063 0.354 -0.995 0.022 . . rs78536198 rs78536198 1 1538 10 1/0 0,226,232 +rs112058478 2 96521548 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521548 96521548 Chr2(GRCh37):g.96521548G>A 5559 5559 NM_001310154.1:c.5559C>T p.Asp1853= p.Asp1853Asp 84 381 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs112058478 no no 0 G 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000155 0.000008 2 0 0 0 0 0 1 0 1 276916 23986 34362 10146 18856 30766 126570 25782 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.984 0.609 D Asp GAC 0.539 D Asp GAT 0.461 1853 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5559T:p.D1853D . . 0.54710144 . . @ 151 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 276.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1853|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.8632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.39 0.28 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112058478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.131e-06 0 0 0 0 8.962e-06 0.0002 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112058478 rs112058478 1 1538 10 1/0 0,222,239 +rs77601294 2 96521556 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521556 96521556 Chr2(GRCh37):g.96521556T>C 5551 5551 NM_001310154.1:c.5551A>G p.Lys1851Glu p.Lys1851Glu 84 373 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77601294 no no 0 T 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000033 0.000008 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 276912 23988 34362 10150 18858 30760 126586 25768 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.992 -0.440 K Lys AAA 0.425 E Glu GAA 0.417 1851 12 8 Tetraodon 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 0.18 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A5551G:p.K1851E . . 0.5090909 . . @ 140 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.152 . . 275.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1851E|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.6281 -0.729 -0.628 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.184 . . exonic downstream exonic . . 0.063 @ . . . 0.38 0.3 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.165 . . 0.319 . . . . 0.230 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.531 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.277 . . . . . 0.243 . 0.065 . HET 0.04 rs77601294 . . . . . . . . . . . . 7.0814 . . I.87 -2.32 . 0.170000 . . . . . . 0.241 . . . 0 8.131e-06 0 0 0 0 8.96e-06 0 3.251e-05 0 0 0 0 0 0 0 0 . . 0.730 . -0.639 -0.639000 . . 0.170000 . . 1.0E-255 0.987 0.361 . 0.200 0.941 . 0.274 . 0.003 -0.639 -0.143 . . . rs77601294 rs77601294 1 1538 10 1/0 0,220,245 +rs75218243 2 96521563 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521563 96521563 Chr2(GRCh37):g.96521563G>A 5544 5544 NM_001310154.1:c.5544C>T p.His1848= p.His1848His 84 366 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs75218243 no no 0 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000008 1 0 0 0 0 0 1 0 0 276784 23986 34350 10148 18854 30764 126486 25756 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.866 0.125 H His CAC 0.587 H His CAT 0.413 1848 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5544T:p.H1848H . . 0.39925373 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 268.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H1848|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.2184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.37 0.21 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75218243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.067e-06 0 0 0 0 8.968e-06 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75218243 rs75218243 1 1538 10 1/0 0,213,255 +rs151242024 2 96521596 C G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521596 96521596 Chr2(GRCh37):g.96521596C>G 5511 5511 NM_001310154.1:c.5511G>C p.Leu1837= p.Leu1837Leu 84 333 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs151242024 no no 0 C 0.000000 0 transversion G C G>C 0.882 0.690 L Leu CTG 0.404 L Leu CTC 0.197 1837 209 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G5511C:p.L1837L . . 0.18275861 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 290.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctC|L1837|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.4386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.39 0.27 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151242024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs151242024 rs151242024 1 1538 10 1/0 0,188,255 +rs77216432 2 96521607 G C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521607 96521607 Chr2(GRCh37):g.96521607G>C 5500 5500 NM_001310154.1:c.5500C>G p.Arg1834Gly p.Arg1834Gly 84 322 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77216432 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.913 1.981 R Arg CGT 0.082 G Gly GGT 0.162 1834 12 10 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5500G:p.R1834G . . 0.33208954 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.415 . @ . . . . . 1 0.285 . . 268.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R1834G|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.0678 -0.166 -0.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.174 . . exonic downstream exonic . . 0.244 @ . . . 0.36 0.25 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.059 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.246 . . 0.100 . . . . 0.291 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.794 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.599 . . . . . 0.393 . 0.543 . HET 0.01 rs77216432 . . . . . . . . . . . . 9.724 . . I.87 I.87 . 0.270000 . . . . . . 0.466 . . . . . . . . . . . . . . . . . . . . . . 0.730 . 1.361 1.361000 . . 0.270000 . . 1.0E-255 1.000 0.715 . 0.150 0.446 . 0.587 . 0.280 1.361 0.697 . . . rs77216432 rs77216432 1 1538 10 1/0 0,207,255 +rs79873536 2 96521608 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521608 96521608 Chr2(GRCh37):g.96521608G>A 5499 5499 NM_001310154.1:c.5499C>T p.Tyr1833= p.Tyr1833Tyr 84 321 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 Cryptic Acceptor Strongly Activated 96521599 3.63196 0.035797 75.2347 3.92569 0.102097 77.9466 rs79873536 no no 0 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245968 15278 33490 9842 17236 30776 111600 22286 5460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 81 Exomes transition C T C>T 0.921 0.286 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1833 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5499T:p.Y1833Y . . 0.3272727 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 275.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y1833|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.5006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.42 0.24 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79873536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.066e-06 0 0 0 0 8.961e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79873536 rs79873536 1 1538 10 1/0 0,205,255 +rs77089740 2 96521609 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521609 96521609 Chr2(GRCh37):g.96521609T>C 5498 5498 NM_001310154.1:c.5498A>G p.Tyr1833Cys p.Tyr1833Cys 84 320 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77089740 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.929 0.448 Y Tyr TAC 0.562 C Cys TGC 0.552 1833 12 5 Platypus -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 353.86 0.00 Tolerated 0.1 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A5498G:p.Y1833C . . 0.32246378 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.248 . @ . . . . . 1 0.148 . . 276.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1833C|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.1363 -0.247 -0.136 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.166 . . exonic downstream exonic . . 0.244 @ . . . 0.44 0.35 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.233 . . 0.178 . . . . 0.189 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.952 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.481 . . . . . 0.094 . 0.628 . HET 0 rs77089740 . . . . . . . . . . . . 4.0882 . . I.87 I.87 . 0.070000 . . . . . . 0.275 . . . . . . . . . . . . . . . . . . . . . . 0.730 . 1.118 1.118000 . . 0.070000 . . 1.0E-255 0.999 0.424 . 0.169 0.526 . 0.391 . 0.280 1.118 0.755 . . . rs77089740 rs77089740 1 1538 10 1/0 0,204,255 +rs78178577 2 96521640 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521640 96521640 Chr2(GRCh37):g.96521640C>T 5467 5467 NM_001310154.1:c.5467G>A p.Gly1823Arg p.Gly1823Arg 84 289 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs78178577 yes no Frequency/1000G 2 T 0.000000 0 0.006589 0.000000 0.000000 0.020800 0.010900 0.001400 0.000444 0.000125 0.000233 0.000099 0.002921 0.000390 0.000332 0.000039 0.000155 0.002921 123 3 8 1 55 12 42 1 1 276776 24000 34284 10142 18828 30768 126548 25768 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123 3 8 1 55 12 42 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.535 0.528 G Gly GGG 0.250 R Arg AGG 0.207 1823 12 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.84 3.II 231 PASS . . . . . . 0.0066 0.0014 0.021 0.011 . . . ANKRD36C:NM_001310154:exon84:c.G5467A:p.G1823R . . 0.24369748 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.003 . . 238.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G1823R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.9598 -0.984 -0.960 c . . . . . 6.316e-04 . . . 0 0.0005 0.0004 0.0040 0 0.0004 0 0.0004 0 0.0007 0.0004 0.0036 0 0.0006 0 0.0004 nonsynonymous_SNV . nonsynonymous_SNV 0.120 . . exonic downstream exonic . . 0.244 0.0066 . . . 0.43 0.33 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.039 . . 0.436 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.096 . . . . . 0.152 . 0.141 . HET 0.47 rs78178577 . . . . . . . . . . . . V.63 . . I.87 I.87 . 0.520000 . . . . . . 0.032 . . . 6.549e-05 0.0005 0.0002 0.0001 0.0030 4.49e-05 0.0003 0.0002 0.0004 0.0002 0.0004 0 0 0.0025 0 0.0004 0 . . 0.310 . 0.187 0.187000 . . 0.520000 . . 1.0E-231 1.000 0.715 . 0.043 0.007 . 0.521 . 0.080 0.187 -0.093 . . . rs78178577 rs78178577 1 1538 10 1/0 0,203,255 +rs199945797 2 96521665 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521665 96521665 Chr2(GRCh37):g.96521665A>G 5442 5442 NM_001310154.1:c.5442T>C p.Ser1814= p.Ser1814Ser 84 264 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs199945797 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.001500 0.000000 0.006000 0.005000 0.000000 0.000080 0.000125 0.000058 0.000000 0.000000 0.000130 0.000103 0.000000 0.000000 0.000130 22 3 2 0 0 4 13 0 0 276590 23988 34250 10142 18814 30772 126432 25754 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 3 2 0 0 4 13 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.969 -0.279 S Ser TCT 0.185 S Ser TCC 0.220 1814 185 PASS . . . . . 0.0015 0.0026 . 0.006 0.005 . . . ANKRD36C:NM_001310154:exon84:c.T5442C:p.S1814S . . 0.12254902 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S1814|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.2046 . . . . . . . . 1.600e-04 . . . 0 3.405e-05 0 0 0 7.332e-05 0 0 0 0.0002 0 0 0 0.0004 0 0 synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . 0.0026 . . . 0.41 0.34 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199945797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.553e-05 8.142e-05 5.986e-05 0 0 0 0.0001 0 0.0001 0.0002 6.46e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs199945797 rs199945797 1 1538 10 1.I 0,0,0 +rs200905909 2 96521669 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521669 96521669 Chr2(GRCh37):g.96521669C>T 5438 5438 NM_001310154.1:c.5438G>A p.Arg1813His p.Arg1813His 84 260 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs200905909 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.001500 0.000000 0.006000 0.005000 0.000000 0.000012 0.000000 0.000030 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000030 3 0 1 0 0 0 2 0 0 245570 15254 33410 9840 17198 30770 111394 22258 5446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 78 Exomes transition G A G>A 0.945 0.205 R Arg CGT 0.082 H His CAT 0.413 1813 12 6 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.07 3.II 183 PASS . . . . . 0.0015 0.0026 . 0.006 0.005 . . . ANKRD36C:NM_001310154:exon84:c.G5438A:p.R1813H . . 0.11881188 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.296 . . 202.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1813H|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.7339 -0.872 -0.734 c . . . . . 1.600e-05 . . . 0 1.138e-05 0 0 0 2.454e-05 0 0 0 9.736e-06 0 0 0 1.905e-05 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.143 . . exonic downstream exonic . . 0.173 0.0026 . . . 0.43 0.27 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.085 . . 0.359 . . . . 0.199 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.327 . . . . . 0.095 . 0.083 . LowAF 0.09 rs200905909 . . . . . . . . . . . . 4.1259 . . I.87 0.718 . 0.170000 . . . . . . 0.037 . . . 0 1.222e-05 2.993e-05 0 0 0 1.795e-05 0 0 . . . . . . . . . . 0.310 . 0.199 0.199000 . . 0.170000 . . 1.0E-183 0.007 0.175 . 0.062 0.065 . 0.073 . 0.070 0.199 -0.334 . . . rs200905909 rs200905909 1 1538 10 1.I 0,0,0 +rs202242743 2 96521671 G C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521671 96521671 Chr2(GRCh37):g.96521671G>C 5436 5436 NM_001310154.1:c.5436C>G p.Leu1812= p.Leu1812Leu 84 258 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs202242743 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.001500 0.000000 0.006000 0.005000 0.000000 0.000054 0.000000 0.000175 0.000000 0.000000 0.000065 0.000047 0.000000 0.000156 0.000175 15 0 6 0 0 2 6 0 1 276486 23994 34242 10126 18810 30768 126364 25752 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 6 0 0 2 6 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.953 0.125 L Leu CTC 0.197 L Leu CTG 0.404 1812 186 PASS . . . . . 0.0015 0.0026 . 0.006 0.005 . . . ANKRD36C:NM_001310154:exon84:c.C5436G:p.L1812L . . 0.125 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctG|L1812|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.0435 . . . . . . . . 3.200e-05 . . . 0 4.557e-05 8.965e-05 0 0 4.915e-05 0 6.114e-05 0 3.9e-05 9.244e-05 0 0 3.818e-05 0 6.149e-05 synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . 0.0026 . . . 0.44 0.27 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs202242743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.702e-05 0.0002 0 0 0 4.49e-05 0.0002 6.5e-05 0 3.231e-05 0 0 0 0 6.669e-05 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs202242743 rs202242743 1 1538 10 1.I 0,0,0 +. 2 96521815 C A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521815 96521815 Chr2(GRCh37):g.96521815C>A 5292 5292 NM_001310154.1:c.5292G>T p.Lys1764Asn p.Lys1764Asn 84 114 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000739 0.000466 0.000527 0.000333 0.000558 0.001414 0.000907 0.000225 0.000189 0.001414 155 9 14 3 8 35 80 5 1 209764 19328 26588 9012 14344 24752 88206 22252 5282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 155 9 14 3 8 35 80 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.992 0.125 K Lys AAG 0.575 N Asn AAT 0.464 1764 12 6 Platypus 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 353.86 0.00 Tolerated 0.19 3.II 216 PASS . . . . . . . . . . . . ANKRD36C:uc002suz.1:exon31:c.G1275T:p.K425N ANKRD36C:NM_001310154:exon84:c.G5292T:p.K1764N . . 0.20238096 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.237 . @ . . . . . 1 0.305 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K1764N|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.6786 -0.643 -0.679 c . . . . . 4.407e-03 . . . 0.0026 0.0052 0.0096 0.0051 0.0107 0.0048 0.0029 0.0054 0.0032 0.0055 0.0095 0.0047 0.0048 0.0059 0.0032 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.183 @ . . . 0.44 0.19 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.017 0.001 . . 37 . 0.097 . . 0.356 . . . . 0.202 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.245 . . 0.270 . . . . . . 0 0.312 . . . . . 0.091 . 0.452 . HET 0.13 rs113267951 . . . . . . . . . . . . 4.0192 . . I.87 0.899 . 0.230000 Q5JPF3 . . . . . 0.258 . . . 0.0008 0.0008 0.0005 0.0001 0.0006 0.0003 0.0009 0.0002 0.0014 0 0.0005 0.0012 0.0072 0 0 0.0009 0 . . 0.609 . 0.308 0.308000 . . 0.230000 . . 1.0E-216 1.000 0.715 . 0.233 0.804 . 0.317 . 0.277 0.308 -0.122 . . . rs75433754 rs113267951 1 1538 10 1/0 0,243,255 +rs113949773 2 96521928 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521928 96521928 Chr2(GRCh37):g.96521928C>T 5179 5179 NM_001310154.1:c.5179G>A p.Val1727Ile p.Val1727Ile 84 1 3' 88.2848 9.57438 0.983397 8.09631 84.3739 8.41276 0.973137 7.03174 -0.0586857 rs113949773 yes no Frequency 1 C 0.000000 0 0.000805 0.001112 0.000537 0.000142 0.000611 0.000955 0.001018 0.000474 0.000584 0.001112 114 9 10 1 6 18 60 8 2 141678 8096 18636 7030 9826 18842 58952 16872 3424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 114 9 10 1 6 18 60 8 2 0 0 0 0 0 0 0 0 0 RF 78 Exomes transition G A G>A 0.992 0.125 V Val GTT 0.178 I Ile ATT 0.356 1727 12 5 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.54 3.II 239 PASS . . . . . . . . . . . . ANKRD36C:uc002suz.1:exon31:c.G1162A:p.V388I ANKRD36C:NM_001310154:exon84:c.G5179A:p.V1727I . . 0.27419356 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.082 . @ . . . . . 1 0.048 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V1727I|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.1059 -1.077 -1.106 c . . . . . 7.784e-04 . . . 0.0011 0.0013 0.0037 0.0034 0.0019 0.0009 0 0.0010 0.0015 0.0022 0.0041 0.0032 0.0067 0.0019 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.225 . . exonic exonic exonic . . 0.127 @ . . . 0.32 0.18 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.130 . . 0.338 . . . . 0.215 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.174 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.272 . . . . . 0.330 . 0.159 . HET 0.14 rs113949773 . . . . . . . . . . . . VIII.43 . . I.87 -0.142 . 0.360000 Q5JPF3 0.0001 0.036 . . . 0.234 . . . 0.0011 0.0008 0.0005 0.0001 0.0006 0.0005 0.0010 0.0006 0.0010 . . . . . . . . . . 0.609 . -0.049 -0.049000 . . 0.360000 . . 1.0E-239 0.873 0.306 . 0.100 0.105 . 0.111 . 0.019 -0.049 -0.512 . . . rs75682686 rs113949773 1 1538 10 1/0 0,255,255 +rs201917928 2 96521933 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution splice site GRCh37 96521933 96521933 Chr2(GRCh37):g.96521933G>A 5179-5 5179-5 NM_001310154.1:c.5179-5C>T p.? p.? 84 83 -5 3' 88.2848 9.57438 0.983397 8.09631 91.8304 10.827 0.988016 7.97177 0.0585634 Cryptic Acceptor Weakly Activated 96521928 9.57438 0.983397 88.2848 10.827 0.988016 91.8304 rs201917928 yes no Frequency 1 G 0.000000 0 0.000207 0.000380 0.000109 0.000000 0.000000 0.000373 0.000294 0.000000 0.000000 0.000380 29 3 2 0 0 7 17 0 0 139774 7902 18380 7002 9562 18778 57836 16930 3384 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 3 2 0 0 7 17 0 0 0 0 0 0 0 0 0 0 0 RF 77 Exomes transition C T C>T 0.929 0.286 236 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . 0.2122 . . . . . . . . 4.001e-04 . . . 0.0008 0.0005 0.0023 0.0006 0 0.0002 0 0.0004 0.0010 0.0012 0.0027 0.0007 0.0041 0.0010 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.07 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201917928 . . . . . . . . . . . . . . . . . . . . 0.0001 0.066 . . . . . . . 0.0004 0.0002 0.0001 0 0 0 0.0003 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs79762068 rs201917928 1 1538 10 1/0 0,255,255 +rs140948329 2 96521944 C A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96521944 96521944 Chr2(GRCh37):g.96521944C>A 5179-16 5179-16 NM_001310154.1:c.5179-16G>T p.? p.? 84 83 -16 3' 88.2848 9.57438 0.983397 8.09631 88.2848 10.1142 0.990715 9.02839 0.0212747 rs140948329 no no 0 C 0.000000 0 transversion G T G>T 0.008 -1.570 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.4765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.05 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140948329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs76238768 rs140948329 1 1538 10 1/0 0,255,255 +rs369682533 2 96589290 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96589290 96589290 Chr2(GRCh37):g.96589290G>A 2096 2096 NM_001310154.1:c.2096C>T p.Ala699Val p.Ala699Val 32 26 3' 82.4972 7.598 0.901191 6.03876 82.4972 7.598 0.901191 5.73918 0 Cryptic Acceptor Strongly Activated 96589278 2.60162 0.241784 73.4467 III.75 0.385193 76.7613 rs369682533 no no 0 0.000000 0 transition C T C>T 0.004 -1.005 A Ala GCT 0.263 V Val GTT 0.178 699 12 2 Chimp 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.66 III.45 208 PASS . . . . . . . . . . . ENSG00000174501:ENST00000456556:exon32:c.C2096T:p.A699V . ANKRD36C:NM_001310154:exon32:c.C2096T:p.A699V . . 0.18181819 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.024 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A699V|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.32) . . . . . . . -1.3111 -1.531 -1.311 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.781 . . exonic intergenic exonic . . 0.081 @ . . . . . . ENSG00000174501 . ANKRD36C . dist\x3d16043\x3bdist\x3d87009 . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.094 0.004 . . 37 . 0.455 . . 0.354 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.049 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.116 . 0.024 . HET 1 rs369682533 . . . . . . . . . . . . IV.68 . ENST00000456556 0.767 -1.53 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -1.082 -1.082000 . . 1.000000 . . 9.999999999999999E-209 0.001 0.137 . 0.043 0.002 . 0.106 . 0.047 -1.082 -1.242 . . . rs369682533 rs369682533 1 1538 10 1/0 0,255,255 +rs796635984 2 96605668 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96605668 96605668 Chr2(GRCh37):g.96605668A>G 1532-905 1532-905 NM_001310154.1:c.1532-905T>C p.? p.? 21 20 -905 3' 84.9413 9.04641 0.97376 4.43853 84.9413 9.04641 0.97376 4.43853 0 rs796635984 no no 0 0.000000 0 transition T C T>C 0.012 0.528 251 PASS . . . . . . . . . . . . . . . . 0.32 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.2455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.45 0.32 182 ENSG00000174501 . ANKRD36C . dist\x3d32421\x3bdist\x3d70631 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . rs1919664 rs1919664 . . 1 1538 10 1/0 0,255,255 +rs200035163 2 96610811 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96610811 96610811 Chr2(GRCh37):g.96610811G>A 1423+51 1423+51 NM_001310154.1:c.1423+51C>T p.? p.? 18 18 51 5' 72.339 5.32219 0.683264 0 72.339 5.32219 0.683264 0 0 rs200035163 no no 0 0.000000 0 0.004841 0.000910 0.007009 0.009346 0.000000 0.000000 0.006804 0.007104 0.007463 0.009346 91 5 3 2 0 0 64 13 4 18798 5496 428 214 888 0 9406 1830 536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 91 5 3 2 0 0 64 13 4 0 0 0 0 0 0 0 0 0 RF 123 Genomes transition C T C>T 0.000 -1.489 254 PASS . . . . . . . . . . . . . . . . 0.22580644 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.7660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.47 0.19 182 ENSG00000174501 . ANKRD36C . dist\x3d37564\x3bdist\x3d65488 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200035163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0048 0.0070 0.0093 0 0.0071 0.0068 0.0075 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs200035163 rs200035163 1 1538 10 1/0 0,255,255 +rs78179792 2 96616504 C A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96616504 96616504 Chr2(GRCh37):g.96616504C>A 1288 1288 NM_001310154.1:c.1288G>T p.Val430Phe p.Val430Phe 16 -8 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 rs78179792 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87748 3676 14598 5998 5654 14906 36290 4206 2420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G T G>T 0.000 -0.360 V Val GTT 0.178 F Phe TTT 0.454 430 12 2 Chimp 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Tolerated 0.39 IV.32 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon16:c.G1288T:p.V430F . . 0.6888889 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.226 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ttt|V430F|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.16) . . . . . . . -1.2184 -1.386 -1.218 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.189 . . exonic intergenic exonic . . 0.081 @ . . . 0.46 0.32 182 ENSG00000174501 . ANKRD36C . dist\x3d43257\x3bdist\x3d59795 . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.077 . . 0.356 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.051 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.038 . 0.137 . HET 0.21 rs78179792 . . . . . . . . . . . . II.58 . ENST00000456556 I.37 -1.55 . 0.470000 . . . . . . 0.002 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.090 . -0.428 -0.428000 . . 0.470000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.054 . 0.004 -0.428 -1.577 . . . rs78179792 rs78179792 1 1538 10 1/0 0,255,255 +rs79025720 2 96616506 G C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96616506 96616506 Chr2(GRCh37):g.96616506G>C 1286 1286 NM_001310154.1:c.1286C>G p.Ala429Gly p.Ala429Gly 16 -10 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 rs79025720 no no 0 0.000000 0 transversion C G C>G 0.000 -0.279 A Ala GCT 0.263 G Gly GGT 0.162 429 12 2 Chimp 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.21 IV.32 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon16:c.C1286G:p.A429G . . 0.6976744 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.183 . @ . . . . . 1 0.085 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A429G|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.16) . . . . . . . -1.1262 -1.289 -1.126 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.204 . . exonic intergenic exonic . . 0.107 @ . . . 0.47 0.3 182 ENSG00000174501 . ANKRD36C . dist\x3d43259\x3bdist\x3d59793 . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.101 . . 0.387 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.277 . 0.089 . HET 0.11 rs79025720 . . . . . . . . . . . . VII.05 . ENST00000456556 I.37 -0.691 . 0.370000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.090 . -0.233 -0.233000 . . 0.370000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.061 . 0.002 -0.233 -1.574 . . . rs79025720 rs79025720 1 1538 10 1/0 0,255,255 +rs79603357 2 96616507 C A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96616507 96616507 Chr2(GRCh37):g.96616507C>A 1285 1285 NM_001310154.1:c.1285G>T p.Ala429Ser p.Ala429Ser 16 -11 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 Cryptic Acceptor Strongly Activated 96616509 3.78633 0.071414 76.2214 4.73916 0.132652 76.2214 rs79603357 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30970 8734 838 302 1620 0 15004 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 142 Genomes transversion G T G>T 0.000 0.044 A Ala GCT 0.263 S Ser TCT 0.185 429 12 2 Chimp 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Tolerated 0.21 IV.32 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon16:c.G1285T:p.A429S . . 0.71428573 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.257 . @ . . . . . 1 0.185 . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Tct|A429S|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.16) . . . . . . . -1.1822 -1.321 -1.182 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.155 . . exonic intergenic exonic . . 0.142 @ . . . 0.46 0.31 182 ENSG00000174501 . ANKRD36C . dist\x3d43260\x3bdist\x3d59792 . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.062 . . 0.408 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.104 . 0.031 . HET 0.1 rs79603357 . . . . . . . . . . . . IV.45 . ENST00000456556 I.37 0.158 . 0.710000 . . . . . . 0.002 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.090 . 0.042 0.042000 . . 0.710000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.105 . 0.032 0.042 -1.577 . . . rs79603357 rs79603357 1 1538 10 1/0 0,255,255 +rs2692901 2 96691956 T C - GPAT2 27168 Glycerol-3-phosphate acyltransferase 2, mitochondrial NM_001321525.1 -1 3018 2406 NP_001308454.1 substitution missense exon GRCh37 96691956 96691956 Chr2(GRCh37):g.96691956T>C 1130 1130 NM_001321525.1:c.1130A>G p.His377Arg p.His377Arg 11 616431 -26 5' 84.8076 9.98517 0.962475 8.68341 84.8076 9.98517 0.962475 9.05367 0 Cryptic Donor Strongly Activated 96691961 0.0263 57.9615 6.64273 0.537187 70.113 rs2692901 yes no Frequency 1 0.000000 0 0.000386 0.000799 0.000496 0.000000 0.000532 0.000098 0.000408 0.000078 0.000625 0.000799 106 19 17 0 10 3 51 2 4 274486 23790 34268 10046 18794 30610 124866 25712 6400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 19 17 0 10 3 51 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.953 1.093 H His CAC 0.587 R Arg CGC 0.190 377 12 7 C. elegans 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Tolerated 0.11 II.50 203 PASS . . . . . . . . . . . . . GPAT2:NM_207328:exon11:c.A1130G:p.H377R . . 0.16666667 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.228 . @ . . . . . 1 0.200 . . 96.0 . . . . . . . . . . -0.3775 -0.300 -0.378 c . . . . . 3.194e-05 . . . 0 3.579e-05 0 0 0 7.695e-05 0 0 0 1.994e-05 0 0 0 3.831e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.390 @ . . . 0.34 0.35 182 ENSG00000186281 GPAT2 GPAT2 . . . 0.002 0.091 . . . . . . . Uncertain_significance . 0 . 0.366 . . . . D 0.503 0.027 . . 37 . 0.355 . . 0.171 . . . 0.741 0.374 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.609 . . 0 0 0 0 0 0 . 0.439 . . 0.425 . . . . . . 1 0.524 . . . . . 0.267 . 0.530 . HET 0.02 rs200637442 . . . . . . . . . . . . VII.12 . . IV.68 3.V . 0.510000 . . . . . . 0.612 . . 3.V 0.0005 0.0003 0.0005 0 0.0005 0 0.0003 0.0002 9.801e-05 0.0014 0.0012 0 0 0.0012 0.0006 0.0011 0.0031 . . 0.246 . 0.639 0.639000 . . 0.510000 . . 1.0E-203 0.998 0.411 . 0.344 0.204 . 0.441 . 0.155 0.639 0.966 . rs2692901 rs2692901 rs2692901 rs200637442 1 1538 10 1/0 0,234,255 +rs139806872 2 97818261 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97818261 97818261 Chr2(GRCh37):g.97818261G>T 1183 1183 NM_001354587.1:c.1183G>T p.Ala395Ser p.Ala395Ser 14 -11 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 Cryptic Acceptor Strongly Activated 97818259 3.78633 0.071414 76.2214 4.73916 0.132652 76.2214 rs139806872 no no 0 0.000000 0 transversion G T G>T 0.000 -0.360 A Ala GCT 0.263 S Ser TCT 0.185 395 12 2 Chimp 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Tolerated 0.75 II.78 238 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon14:c.G1183T:p.A395S . . 0.27272728 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.161 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Tct|A395S|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.14) . . . . . . . -1.8154 -1.872 -1.815 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.155 . . exonic exonic exonic . . 0.081 @ . . . 0.31 0.29 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.066 . . 0.380 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.087 . . 0 0 0 0 0 0 . 0.119 . . 0.040 . . . . . . 0 0.486 . . . . . 0.040 . 0.178 . HET . rs139806872 . . . . . . . . . . . . II.16 . . I.34 -1.52 . 0.380000 A6QL64 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.395 -0.395000 . . 0.380000 . . 1.0E-238 0.000 0.063 . 0.016 0.002 . 0.015 . 0.005 -0.395 -1.584 . . . rs139806872 rs139806872 1 1538 10 1/0 0,255,255 +rs147852915 2 97818262 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97818262 97818262 Chr2(GRCh37):g.97818262C>G 1184 1184 NM_001354587.1:c.1184C>G p.Ala395Gly p.Ala395Gly 14 -10 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 rs147852915 no no 0 0.000000 0 transversion C G C>G 0.000 -0.763 A Ala GCT 0.263 G Gly GGT 0.162 395 12 2 Chimp 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.39 II.78 246 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon14:c.C1184G:p.A395G . . 0.29787233 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.146 . @ . . . . . 1 0.173 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A395G|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.14) . . . . . . . -1.8991 -1.969 -1.899 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.204 . . exonic exonic exonic . . 0.066 @ . . . 0.37 0.27 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.050 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.089 . . 0.290 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.100 . . 0 0 0 0 0 0 . 0.176 . . 0.063 . . . . . . 0 0.477 . . . . . 0.109 . 0.355 . HET . rs147852915 . . . . . . . . . . . . IV.71 . . I.34 -2.2 . 0.190000 A6QL64 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.735 -0.735000 . . 0.190000 . . 1.0E-246 0.000 0.063 . 0.016 0.001 . 0.018 . 0.000 -0.735 -1.598 . . . rs147852915 rs147852915 1 1538 10 1/0 0,255,255 +rs150243949 2 97818264 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97818264 97818264 Chr2(GRCh37):g.97818264G>T 1186 1186 NM_001354587.1:c.1186G>T p.Val396Phe p.Val396Phe 14 -8 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 rs150243949 no no 0 0.000000 0 transversion G T G>T 0.000 -4.395 V Val GTT 0.178 F Phe TTT 0.454 396 12 2 Chimp 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Tolerated 0.6 II.78 244 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon14:c.G1186T:p.V396F . . 0.29166666 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.038 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ttt|V396F|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.14) . . . . . . . -2.4226 -2.521 -2.423 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.189 . . exonic exonic exonic . . 0.057 @ . . . 0.35 0.32 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.989 0.318 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . 0.092 . . 0.201 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.181 . . 0.063 . . . . . . 0 0.599 . . . . . 0.121 . 0.363 . HET . rs150243949 . . . . . . . . . . . . IV.41 . . I.34 -2.68 . 0.160000 A6QL64 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -4.686 -4.686000 . . 0.160000 . . 1.0000000000000001E-244 0.000 0.063 . 0.016 0.001 . 0.005 . 0.000 -4.686 -1.584 . . . rs150243949 rs150243949 1 1538 10 1/0 0,255,255 +rs4528800 2 97824438 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97824438 97824438 Chr2(GRCh37):g.97824438C>G 1389+46 1389+46 NM_001354587.1:c.1389+46C>G p.? p.? 17 17 46 5' 87.5418 8.88433 0.990432 2.16721 87.5418 8.88433 0.990432 1.88916 0 rs4528800 no no 0 0.000000 0 0.003485 0.001650 0.001408 0.003448 0.003396 0.000000 0.001343 0.019090 0.004854 0.019090 92 12 1 1 4 0 18 52 4 26402 7272 710 290 1178 0 13404 2724 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 92 12 1 1 4 0 18 52 4 0 0 0 0 0 0 0 0 0 RF 51 Genomes transversion C G C>G 0.000 -0.360 244 PASS . . . . . . . . . . . . . . . . 0.2962963 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.2322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.26 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4528800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0035 0.0014 0.0034 0.0034 0.0191 0.0013 0.0049 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs4528800 rs4528800 rs4528800 rs4528800 1 1538 10 1/0 0,255,255 +. 2 97829004 AAAATAA A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 deletion intron GRCh37 97829009 97829014 Chr2(GRCh37):g.97829009_97829014del 1430-1011 1430-1006 NM_001354587.1:c.1430-1011_1430-1006del p.? p.? 19 18 -1006 3' 84.9413 9.04641 0.97376 4.43853 84.9413 9.04641 0.97376 4.43853 0 TAAAAA 255 Pass . . . . . . . . . . . . . . . . 0.6136364 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,21 +rs796337761 2 97829120 T C - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97829120 97829120 Chr2(GRCh37):g.97829120T>C 1430-900 1430-900 NM_001354587.1:c.1430-900T>C p.? p.? 19 18 -900 3' 84.9413 9.04641 0.97376 4.43853 84.9413 9.04641 0.97376 4.43853 0 rs796337761 no no 0 0.000000 0 transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.2363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.3 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1919664 rs1919664 . . 1 1538 10 1/0 0,255,255 +rs780021191 2 97845607 G A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97845607 97845607 Chr2(GRCh37):g.97845607G>A 1672 1672 NM_001354587.1:c.1672G>A p.Asp558Asn p.Asp558Asn 24 10 3' 77.1621 6.46018 0.657959 5.58742 77.1621 6.46018 0.570368 5.08707 -0.0443751 Cryptic Donor Strongly Activated 97845604 0.0469053 0.00528 65.7868 3.70058 0.191006 70.1492 rs780021191 yes no Frequency 1 0.000000 0 0.000026 0.000090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000188 0.000160 0.000188 7 2 0 0 0 0 0 4 1 266178 22256 33936 10006 18460 30636 123384 21232 6268 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 0 0 0 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.044 D Asp GAC 0.539 N Asn AAC 0.536 558 12 4 Olive baboon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.14 II.78 253 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon24:c.G1672A:p.D558N . . 0.32352942 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.447 . @ . . . . . 1 0.778 . . 34.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D558N|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.24) . . . . . . . -0.6021 -0.849 -0.602 c . . . . . 5.255e-04 . . . 0.0008 0.0005 0.0003 0.0004 0.0008 0.0004 0 0.0004 0.0009 0.0004 0.0003 0.0003 0.0005 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.760 . . exonic exonic exonic . . 0.147 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.111 0.004 . . 37 . 0.716 . . 0.582 . . . 0.331 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.764 . . 0.832 . . . . . . 0 0.433 . . . . . 0.070 . 0.021 . HET . rs780021191 . . . . . . . . . . . . III.86 . . I.17 0.244 . 0.010000 . . . . . . 0.041 . . . 0 0 0 0 0 0 0 0 0 0.0003 0.0002 0 0 0 0.0013 0 0.0011 . . 0.482 . 0.077 0.077000 . . 0.010000 . . 1.0E-253 0.004 0.165 . 0.043 0.012 . 0.262 . 0.119 0.077 0.697 . . . . . 1 1538 10 1/0 0,255,255 +rs535188727 2 97845609 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97845609 97845609 Chr2(GRCh37):g.97845609C>T 1674 1674 NM_001354587.1:c.1674C>T p.Asp558= p.Asp558Asp 24 12 3' 77.1621 6.46018 0.657959 5.58742 77.1621 6.46018 0.607763 5.52835 -0.0254302 rs535188727 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000289 0.000180 0.000000 0.000000 0.000000 0.000033 0.000057 0.002965 0.000320 0.002965 77 4 0 0 0 1 7 63 2 266098 22256 33920 10000 18452 30632 123332 21248 6258 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000094 0.000000 1 0 0 0 0 0 0 1 0 75 4 0 0 0 1 7 61 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.602 D Asp GAC 0.539 D Asp GAT 0.461 558 251 PASS . . . . . . 0.0002 . . 0.001 . . . ANKRD36:NM_001164315:exon24:c.C1674T:p.D558D . . 0.31428573 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 35.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D558|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.24) . . . . . . . -0.3508 . . . . . . . . 8.329e-04 . . . 0.0009 0.0007 0.0003 0.0004 0.0049 0.0005 0 0.0005 0.0011 0.0008 0.0003 0.0003 0.0045 0.0005 0 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . 6 9.23418e-05 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535188727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0 0.0029 4.584e-05 0 3.265e-05 0.0003 0.0006 0 0 0 0.0035 0.0001 0.0022 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs778558099 2 97845612 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97845612 97845612 Chr2(GRCh37):g.97845612C>G 1677 1677 NM_001354587.1:c.1677C>G p.Asp559Glu p.Asp559Glu 24 15 3' 77.1621 6.46018 0.657959 5.58742 77.1621 6.46018 0.741657 5.72342 0.0424028 rs778558099 yes no Frequency 1 0.000000 0 0.000053 0.000135 0.000029 0.000000 0.000054 0.000000 0.000032 0.000187 0.000160 0.000187 14 3 1 0 1 0 4 4 1 266042 22268 33912 9998 18450 30600 123234 21338 6242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 3 1 0 1 0 4 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.044 D Asp GAC 0.539 E Glu GAG 0.583 559 12 3 Zebrafish 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 II.78 251 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon24:c.C1677G:p.D559E . . 0.31428573 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.015 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D559E|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.24) . . . . . . . -1.7770 -1.765 -1.777 c . . . . . 5.585e-04 . . . 0.0009 0.0005 0.0004 0.0008 0.0008 0.0004 0 0.0004 0.0011 0.0005 0.0004 0.0005 0.0005 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.759 . . exonic exonic exonic . . 0.147 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.076 0.003 . . 37 . 0.367 . . 0.378 . . . 0.038 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.079 . . 0 0 0 0 0 0 . 0.156 . . 0.149 . . . . . . 0 0.010 . . . . . 0.148 . 0.107 . HET . rs778558099 . . . . . . . . . . . . V.92 . . I.17 0.251 . 1.000000 . . . . . . 0.001 . . . 6.973e-05 1.685e-05 3.016e-05 0 5.85e-05 0 9.177e-06 0 0 0.0003 0.0003 0 0 0 0.0013 0.0002 0.0011 . . 0.482 . 0.081 0.081000 . . 1.000000 . . 1.0E-251 0.011 0.184 . 0.016 0.041 . 0.344 . 0.034 0.081 -1.105 . . . . . 1 1538 10 1/0 0,255,255 +rs199729164 2 97845616 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97845616 97845616 Chr2(GRCh37):g.97845616G>T 1681 1681 NM_001354587.1:c.1681G>T p.Asp561Tyr p.Asp561Tyr 24 19 3' 77.1621 6.46018 0.657959 5.58742 77.1621 6.46018 0.635674 5.27267 -0.01129 Cryptic Acceptor Strongly Activated 97845635 4.64854 0.031787 74.0495 6.58433 0.066356 74.0495 rs199729164 yes no Frequency 1 0.000000 0 0.000361 0.000605 0.000424 0.000305 0.000336 0.000338 0.000286 0.000486 0.000493 0.000605 93 13 14 3 6 10 34 10 3 257418 21476 33022 9840 17878 29602 118926 20590 6084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 13 14 3 6 10 34 10 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.016 0.932 D Asp GAT 0.461 Y Tyr TAT 0.438 561 12 5 Chicken -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 353.86 0.00 Deleterious 0.01 II.78 251 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon24:c.G1681T:p.D561Y . . 0.31428573 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.445 . @ . . . . . 1 0.239 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D561Y|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.24) . . . . . . . -0.3751 -0.657 -0.375 c . . . . . 8.019e-04 . . . 0.0011 0.0008 0.0005 0.0013 0.0009 0.0008 0 0.0007 0.0013 0.0007 0.0003 0.0010 0.0005 0.0008 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.756 . . exonic exonic exonic . . 0.199 @ . . . 0.4 0.31 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.766 . . 0.617 . . . 0.424 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.784 . . . . . 0.174 . 0.363 . HET . rs199729164 . . . . . . . . . . . . V.12 . . I.17 I.17 . 0.000000 . . . . . . 0.053 . . . 0.0008 0.0004 0.0004 0.0003 0.0004 0.0003 0.0003 0.0004 0.0003 0.0003 0.0003 0 0 0 0.0016 7.042e-05 0.0011 . . 0.482 . 0.963 0.963000 . . 0.000000 . . 1.0E-251 0.000 0.063 . 0.016 0.130 . 0.158 . 0.038 0.963 0.697 . . . rs199729164 rs199729164 1 1538 10 1/0 0,255,255 +. 2 97851075 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97851075 97851075 Chr2(GRCh37):g.97851075C>T 1962 1962 NM_001354587.1:c.1962C>T p.Ala654= p.Ala654Ala 29 -7 5' 87.3006 8.82915 0.982143 0 87.3006 8.82915 0.971435 0 -0.00363423 rs1003095623 no no 0 0.000000 0 transition C T C>T 0.000 -0.440 A Ala GCC 0.403 A Ala GCT 0.263 654 216 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon29:c.C1962T:p.A654A . . 0.20454545 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A654|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.29) . . . . . . . -0.5401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 97851076 T G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97851076 97851076 Chr2(GRCh37):g.97851076T>G 1963 1963 NM_001354587.1:c.1963T>G p.Ser655Ala p.Ser655Ala 29 -6 5' 87.3006 8.82915 0.982143 0 87.3006 8.82915 0.989114 0.602643 0.00236591 rs1015779697 no no 0 0.000000 0 transversion T G T>G 0.008 -0.037 S Ser TCA 0.148 A Ala GCA 0.226 655 12 2 Chimp 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.57 II.82 206 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon29:c.T1963G:p.S655A . . 0.17777778 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.063 . @ . . . . . 1 0.018 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Gca|S655A|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.29) . . . . . . . -1.5340 -1.613 -1.534 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.165 . . exonic exonic exonic . . 0.123 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.090 . . 0.383 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.121 . . 0 0 0 0 0 0 . 0.315 . . 0.377 . . . . . . 0 0.408 . . . . . 0.087 . 0.255 . HET . . . . . . . . . . . . . . III.23 . . 1.VI -0.262 . 0.250000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -0.080 -0.080000 . . 0.250000 . . 1.0E-206 0.000 0.063 . 0.016 0.002 . 0.083 . 0.001 -0.080 0.643 . . . . . 1 1538 10 1/0 0,255,255 +. 2 97851077 C A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution stop gain exon GRCh37 97851077 97851077 Chr2(GRCh37):g.97851077C>A 1964 1964 NM_001354587.1:c.1964C>A p.Ser655* p.Ser655* 29 -5 5' 87.3006 8.82915 0.982143 0 87.3006 8.82915 0.985535 0 0.00115122 rs961387199 no no 0 0.000000 0 transversion C A C>A 0.028 -0.602 S Ser TCA 0.148 * * TAA 0.277 655 213 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon29:c.C1964A:p.S655X . . 0.19565217 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.355 . @ . . . . . 0 0.083 . . 46.0 . . STOP_GAINED(HIGH|NONSENSE|tCa/tAa|S655*|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.29) . . . . . . . -0.8054 -1.240 -0.805 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.067 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.023 . . . HET . . . . . . . . . . . . . . I.31 . . 1.VI -2.12 . 0.310000 . . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -0.664 -0.664000 . . 0.310000 . . 1.0E-213 0.001 0.137 . 0.016 0.001 . 0.122 . 0.000 -0.664 -1.095 . . . . . 1 1538 10 1/0 0,255,255 +. 2 97851078 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97851078 97851078 Chr2(GRCh37):g.97851078A>G 1965 1965 NM_001354587.1:c.1965A>G p.Ser655= p.Ser655Ser 29 -4 5' 87.3006 8.82915 0.982143 0 87.3006 8.82915 0.964488 0 -0.005992 rs974036808 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244314 15214 33272 9806 17110 30634 110634 22230 5414 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 69 Exomes transition A G A>G 0.118 -0.037 S Ser TCA 0.148 S Ser TCG 0.056 655 213 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon29:c.A1965G:p.S655S . . 0.19565217 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S655|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.29) . . . . . . . -0.3362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs75833559 2 97851200 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97851200 97851200 Chr2(GRCh37):g.97851200C>T 1994 1994 NM_001354587.1:c.1994C>T p.Ala665Val p.Ala665Val 30 26 3' 82.4972 7.598 0.901191 6.15707 82.4972 7.598 0.901191 5.85749 0 Cryptic Acceptor Strongly Activated 97851212 2.60162 0.241784 73.4467 III.75 0.385193 76.7613 rs75833559 yes no Frequency 1 0.000000 0 0.000015 0.000054 0.000000 0.000000 0.000000 0.000033 0.000017 0.000000 0.000000 0.000054 4 1 0 0 0 1 2 0 0 260410 18568 33462 10024 17582 30382 119718 24716 5958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 -0.521 A Ala GCT 0.263 V Val GTT 0.178 665 12 2 Chimp 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.39 II.82 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon30:c.C1994T:p.A665V . . 0.38356164 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.002 . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A665V|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.30) . . . . . . . -1.9273 -1.945 -1.927 c . . . . . 8.025e-06 . . . 0 1.374e-05 0 0 0 0 0 7.188e-05 0 1.185e-05 0 0 0 0 0 7.229e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.173 . . exonic exonic exonic . . 0.073 @ . . . 0.33 0.24 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.042 . . 0.390 . . . 0.041 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.088 . . 0 0 0 0 0 0 . 0.158 . . 0.179 . . . . . . 0 0.010 . . . . . 0.106 . 0.024 . HET . rs75833559 . . . . . . . . . . . . IV.98 . . 1.II -1.87 . 1.000000 . . . . . . 0.002 . . . 0 4.129e-06 0 0 0 0 0 0 3.291e-05 0.0003 0.0002 0 0 0 0 0.0002 0 . . 0.465 . -0.517 -0.517000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.105 . 0.042 -0.517 -1.297 . . . rs75833559 rs75833559 1 1538 10 1/0 0,255,255 +. 2 97910878 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97910878 97910878 Chr2(GRCh37):g.97910878G>T 4492-16 4492-16 NM_001354587.1:c.4492-16G>T p.? p.? 71 70 -16 3' 88.2848 9.57438 0.983397 8.26876 88.2848 10.1142 0.990715 9.20084 0.0212747 transversion G T G>T 0.024 -0.844 220 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.5093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.31 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201193319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs76238768 rs201346404 1 1538 10 1/0 0,255,255 +. 2 97910889 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution splice site GRCh37 97910889 97910889 Chr2(GRCh37):g.97910889C>T 4492-5 4492-5 NM_001354587.1:c.4492-5C>T p.? p.? 71 70 -5 3' 88.2848 9.57438 0.983397 8.26876 91.8304 10.827 0.988016 8.14421 0.0585634 Cryptic Acceptor Weakly Activated 97910894 9.57438 0.983397 88.2848 10.827 0.988016 91.8304 transition C T C>T 1.000 1.739 243 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . 0.2912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.35 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200446433 . . . . . . . . . . . . . . . . . . . . 0.0001 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs79762068 rs79762068 1 1538 10 1/0 0,255,255 +. 2 97910894 G A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97910894 97910894 Chr2(GRCh37):g.97910894G>A 4492 4492 NM_001354587.1:c.4492G>A p.Val1498Ile p.Val1498Ile 71 1 3' 88.2848 9.57438 0.983397 8.26876 84.3739 8.41276 0.973137 7.20418 -0.0586857 transition G A G>A 0.874 -0.360 V Val GTT 0.178 I Ile ATT 0.356 1498 12 5 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.95 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G4570A:p.V1524I . . 0.36764705 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.059 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V1524I|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.1647 -1.196 -1.165 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.225 . . exonic exonic exonic . . 0.110 @ . . . 0.37 0.29 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.135 . . 0.165 . . . 0.065 0.203 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.176 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.284 . . . . . 0.110 . 0.062 . HET 0.16 rs202184678 . . . . . . . . . . . . IV.04 . . 1.IV -0.607 . . . 0.0001 0.018 . . . 0.232 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.224 -0.224000 . . . . . 1.0E-255 0.965 0.337 . 0.117 0.169 . 0.174 . 0.027 -0.224 -0.467 . . . rs75682686 rs75682686 1 1538 10 1/0 0,255,255 +rs200057888 2 97910937 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97910937 97910937 Chr2(GRCh37):g.97910937G>T 4535 4535 NM_001354587.1:c.4535G>T p.Arg1512Leu p.Arg1512Leu 71 44 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 7.58182 0 rs200057888 no no 0 G 0.000000 0 transversion G T G>T 0.205 -0.360 R Arg CGC 0.190 L Leu CTC 0.197 1512 12 3 Zebrafish -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 353.86 0.00 Tolerated 0.25 II.78 217 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G4613T:p.R1538L . . 0.2038835 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.010 . . 103.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R1538L|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.3494 -1.450 -1.349 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.291 . . exonic exonic exonic . . 0.055 @ . . . 0.4 0.32 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.131 . . 0.266 . . . 0.238 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.420 . . 0.365 . . . . . . 0 0.051 . . . . . 0.186 . 0.210 . HET 0.22 rs200057888 . . . . . . . . . . . . 6.0029 . . 1.IV -2.79 . 0.660000 . . . . . . 0.119 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.383 -0.383000 . . 0.660000 . . 1.0E-217 0.778 0.292 . 0.108 0.027 . 0.396 . 0.023 -0.383 -0.919 . . rs71258079 rs75882290 rs75882290 1 1538 10 1/0 0,234,255 +rs201852435 2 97910960 A T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97910960 97910960 Chr2(GRCh37):g.97910960A>T 4558 4558 NM_001354587.1:c.4558A>T p.Arg1520Trp p.Arg1520Trp 71 67 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.59947 0 Cryptic Acceptor Strongly Activated 97910968 0.003258 1.56539 0.041127 78.0176 rs201852435 no no 0 A 0.000000 0 transversion A T A>T 0.937 0.528 R Arg AGG 0.207 W Trp TGG 1.000 1520 12 2 Chimp -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 257.76 46.61 Tolerated 0.19 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A4636T:p.R1546W . . 0.39655173 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.690 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R1546W|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.3827 -0.569 -0.383 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.140 . . exonic exonic exonic . . 0.213 @ . . . 0.46 0.34 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.247 . . 0.078 . . . 0.583 0.220 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.516 . . 0 0 0 0 0 0 . 0.764 . . 0.797 . . . . . . 0 0.531 . . . . . 0.062 . 0.324 . HET 0.02 rs201852435 . . . . . . . . . . . . III.52 . . 1.IV 1.IV . 0.020000 . . . . . . 0.102 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.893 0.893000 . . 0.020000 . . 1.0E-255 0.708 0.285 . 0.213 0.960 . 0.334 . 0.286 0.893 0.804 . . rs72931734 rs72931734 rs72931734 1 1538 10 1/0 0,243,255 +rs200637231 2 97910988 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97910988 97910988 Chr2(GRCh37):g.97910988A>G 4586 4586 NM_001354587.1:c.4586A>G p.Lys1529Arg p.Lys1529Arg 71 95 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs200637231 no no 0 A 0.000000 0 transition A G A>G 0.189 0.044 K Lys AAA 0.425 R Arg AGA 0.205 1529 12 6 Chicken 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 258.92 0.00 Tolerated 0.6 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A4664G:p.K1555R . . 0.4047619 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.101 . @ . . . . . 1 0.422 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K1555R|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.3954 -0.521 -0.395 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.179 . . exonic exonic exonic . . 0.143 @ . . . 0.43 0.34 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.274 . . 0.113 . . . 0.421 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.532 . . 0 0 0 0 0 0 . 0.670 . . 0.736 . . . . . . 0 0.413 . . . . . 0.094 . 0.239 . HET 0.11 rs200637231 . . . . . . . . . . . . 4.107 . . 1.IV 0.173 . 0.060000 . . . . . . 0.121 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.042 0.042000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.176 0.784 . 0.308 . 0.102 0.042 -0.214 . . . rs78091509 rs112192400 1 1538 10 1/0 0,241,255 +rs200935570 2 97911007 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911007 97911007 Chr2(GRCh37):g.97911007G>T 4605 4605 NM_001354587.1:c.4605G>T p.Lys1535Asn p.Lys1535Asn 71 114 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs200935570 no no 0 G 0.000000 0 transversion G T G>T 0.992 -0.037 K Lys AAG 0.575 N Asn AAT 0.464 1535 12 7 Platypus 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 244.67 0.00 Tolerated 0.38 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G4683T:p.K1561N . . 0.46268657 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.218 . @ . . . . . 1 0.368 . . 134.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K1561N|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.7319 -0.706 -0.732 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.153 @ . . . 0.44 0.31 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.024 0.002 . . 37 . 0.084 . . 0.248 . . . 0.188 0.198 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.563 . . 0 0 0 0 0 0 . 0.272 . . 0.190 . . . . . . 0 0.330 . . . . . 0.071 . 0.185 . HET 0.17 rs200935570 . . . . . . . . . . . . III.71 . . 1.IV 0.374 . 0.100000 . . . . . . 0.204 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.112 0.112000 . . 0.100000 . . 1.0E-255 0.890 0.310 . 0.285 0.719 . 0.099 . 0.281 0.112 -0.287 . . . rs75433754 rs111605455 1 1538 10 1/0 0,243,255 +rs200630019 2 97911045 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911045 97911045 Chr2(GRCh37):g.97911045A>G 4643 4643 NM_001354587.1:c.4643A>G p.His1548Arg p.His1548Arg 71 152 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs200630019 no no 0 A 0.000000 0 transition A G A>G 0.874 -0.440 H His CAT 0.413 R Arg CGT 0.082 1548 12 3 Olive baboon 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 264.55 0.00 Tolerated 0.55 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A4721G:p.H1574R . . 0.44025156 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.026 . . 159.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H1574R|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.5617 -1.569 -1.562 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.131 . . exonic exonic exonic . . 0.124 @ . . . 0.43 0.32 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.070 . . 0.280 . . . 0.170 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.372 . . 0 0 0 0 0 0 . 0.188 . . 0.198 . . . . . . 0 0.586 . . . . . 0.045 . 0.172 . HET 0.11 rs200630019 . . . . . . . . . . . . II.61 . . 1.IV -0.223 . 0.000000 . . . . . . 0.233 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.392 -0.392000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.043 0.173 . 0.231 . 0.025 -0.392 -0.066 . rs62156257 rs62156257 rs62156257 rs201350244 1 1538 10 1/0 0,235,255 +rs202131502 2 97911096 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911096 97911096 Chr2(GRCh37):g.97911096C>T 4694 4694 NM_001354587.1:c.4694C>T p.Thr1565Met p.Thr1565Met 71 203 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs202131502 no no 0 C 0.000000 0 0.000022 0.000060 0.000000 0.000000 0.000000 0.000046 0.000027 0.000000 0.000000 0.000060 4 1 0 0 0 1 2 0 0 179466 16590 23494 8412 11776 21568 72854 20026 4746 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.378 1.739 T Thr ACG 0.116 M Met ATG 1.000 1565 12 9 Zebrafish -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0 II.85 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C4772T:p.T1591M . . 0.36898395 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.210 . @ . . . . . 1 0.743 . . 187.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1591M|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.0160 -0.273 -0.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.250 . . exonic exonic exonic . . 0.213 @ . . . 0.45 0.33 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.444 . . 0.468 . . . 0.583 0.198 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.808 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 0 0.465 . . . . . 0.336 . 0.535 . HET 0.03 rs202131502 . . . . . . . . . . . . VIII.25 0.028777 . 1.IV 1.IV . 0.010000 . . . . . . 0.275 . . . 0.0001 1.979e-05 0 0 0 0 1.682e-05 0 4.637e-05 0 3.586e-05 0 0 0 0 7.467e-05 0 . . 0.609 . 1.081 1.081000 . . 0.010000 . . 1.0E-255 0.973 0.343 . 0.083 0.348 . 0.438 . 0.055 1.081 0.666 . rs62156258 rs62156258 rs62156258 rs202130501 1 1538 10 1/0 0,224,255 +rs200990159 2 97911109 T C - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97911109 97911109 Chr2(GRCh37):g.97911109T>C 4707 4707 NM_001354587.1:c.4707T>C p.Tyr1569= p.Tyr1569Tyr 71 216 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs200990159 no no 0 T 0.000000 0 0.002500 0.000520 0.000454 0.000234 0.000000 0.004612 0.002941 0.005259 0.002069 0.005259 461 9 11 2 0 102 220 107 10 184402 17324 24248 8564 12178 22114 74794 20346 4834 0.000076 0.000000 0.000000 0.000000 0.000000 0.000452 0.000053 0.000000 0.000000 7 0 0 0 0 5 2 0 0 447 9 11 2 0 92 216 107 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.323 1.416 Y Tyr TAT 0.438 Y Tyr TAC 0.562 1569 240 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.T4785C:p.Y1595Y . . 0.27227724 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 202.0 . . SYNONYMOUS_CODING(LOW|SILENT|taT/taC|Y1595|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . 0.1422 . . . . . . . . 1.178e-03 . . . 0 0.0040 0.0047 0 0 0.0024 0.0055 0.0070 0 0.0044 0.0064 0 0.0048 0.0013 0.0062 0.0070 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.36 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200990159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0025 0.0005 0.0002 0 0.0054 0.0026 0.0025 0.0046 0.0004 0.0027 0 0 0 0.0044 0.0043 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs79584453 rs200455439 1 1538 10 1/0 0,212,255 +rs148854709 2 97911151 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97911151 97911151 Chr2(GRCh37):g.97911151C>G 4749 4749 NM_001354587.1:c.4749C>G p.Leu1583= p.Leu1583Leu 71 258 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs148854709 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 235096 14688 31436 9578 16300 28396 107542 21904 5252 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 52 Exomes transversion C G C>G 0.874 0.044 L Leu CTC 0.197 L Leu CTG 0.404 1583 227 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C4827G:p.L1609L . . 0.23394495 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 218.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctG|L1609|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.2102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.34 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148854709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs62156259 rs62156259 rs62156259 rs201307031 1 1538 10 1/0 0,205,255 +rs140876104 2 97911153 G A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911153 97911153 Chr2(GRCh37):g.97911153G>A 4751 4751 NM_001354587.1:c.4751G>A p.Arg1584His p.Arg1584His 71 260 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs140876104 no no 0 G 0.000000 0 0.000096 0.000135 0.000062 0.000000 0.000000 0.000514 0.000027 0.000045 0.000000 0.000514 23 2 2 0 0 15 3 1 0 239176 14840 32194 9670 16644 29174 109272 22044 5338 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 2 2 0 0 15 3 1 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition G A G>A 0.843 -0.360 R Arg CGT 0.082 H His CAT 0.413 1584 12 6 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.13 II.78 228 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G4829A:p.R1610H . . 0.2372093 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.144 . @ . . . . . 1 0.306 . . 215.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1610H|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.2867 -1.446 -1.287 c . . . . . 9.634e-05 . . . 0 0.0001 0 0 0 0 0.0020 0.0007 0 0.0001 0 0 0.0002 2.587e-05 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.143 . . exonic exonic exonic . . 0.083 @ . . . 0.42 0.32 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.106 . . 0.325 . . . 0.133 0.204 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.093 . . 0 0 0 0 0 0 . 0.689 . . 0.511 . . . . . . 0 0.398 . . . . . 0.161 . 0.083 . HET 0.17 rs140876104 . . . . . . . . . . . . V.34 . . 1.IV -1.47 . 0.110000 . . . . . . 0.030 . . . 0.0001 9.616e-05 6.212e-05 0 0 4.536e-05 2.745e-05 0 0.0005 . . . . . . . . . . 0.609 . -0.384 -0.384000 . . 0.110000 . . 1.0E-228 0.000 0.063 . 0.016 0.040 . 0.059 . 0.005 -0.384 -0.297 . rs62157160 rs62157160 rs62157160 rs199582458 1 1538 10 1/0 0,206,255 +rs796195467 2 97911668 G C - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911668 97911668 Chr2(GRCh37):g.97911668G>C 5266 5266 NM_001354587.1:c.5266G>C p.Asp1756His p.Asp1756His 71 -141 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs796195467 no no 0 G 0.000000 0 transversion G C G>C 0.079 -0.037 D Asp GAT 0.461 H His CAT 0.413 1756 12 4 Olive baboon 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 155.40 0.00 Tolerated 0.12 II.77 204 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G5344C:p.D1782H . . 0.17 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.250 . @ . . . . . 1 0.191 . . 100.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D1782H|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.7547 -0.816 -0.755 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.133 . . exonic exonic exonic . . 0.157 @ . . . 0.47 0.26 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.097 . . 0.212 . . . 0.026 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.647 . . 0.597 . . . . . . 0 0.193 . . . . . 0.071 . 0.084 . HET 0.19 . . . . . . . . . . . . . III.15 . . 1.IV 0.441 . 0.270000 . . . . . . 0.098 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.134 0.134000 . . 0.270000 . . 1.0E-204 1.000 0.715 . 0.043 0.000 . 0.339 . 0.061 0.134 -0.982 . rs2951081 rs2951081 rs2951081 rs2951081 1 1538 10 1/0 0,232,255 +rs796359143 2 97911680 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911680 97911680 Chr2(GRCh37):g.97911680C>G 5278 5278 NM_001354587.1:c.5278C>G p.Gln1760Glu p.Gln1760Glu 71 -129 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs796359143 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1160 134 4 8 18 0 766 186 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 111 Genomes transversion C G C>G 0.000 -0.037 Q Gln CAA 0.256 E Glu GAA 0.417 1760 12 4 Olive baboon 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 157.09 0.00 Tolerated 1 II.77 238 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C5356G:p.Q1786E . . 0.26666668 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.002 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q1786E|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.4476 -1.434 -1.448 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.128 . . exonic exonic exonic . . 0.140 @ . . . 0.45 0.26 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.027 . . 0.408 . . . 0.016 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.138 . . 0 0 0 0 0 0 . 0.213 . . 0.112 . . . . . . 0 0.010 . . . . . 0.039 . 0.104 . HET 1 . . . . . . . . . . . . . II.12 . . 1.IV 0.131 . 1.000000 . . . . . . 0.035 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.609 . 0.025 0.025000 . . 1.000000 . . 1.0E-238 0.004 0.165 . 0.083 0.002 . 0.384 . 0.054 0.025 -0.677 . . . rs76463801 rs76463801 1 1538 10 1/0 0,239,255 +rs796937977 2 97911684 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911684 97911684 Chr2(GRCh37):g.97911684A>G 5282 5282 NM_001354587.1:c.5282A>G p.Asn1761Ser p.Asn1761Ser 71 -125 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs796937977 no no 0 A 0.000000 0 transition A G A>G 0.016 0.286 N Asn AAC 0.536 S Ser AGC 0.243 1761 12 4 Olive baboon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 162.29 VI.18 Tolerated 0.18 II.77 233 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A5360G:p.N1787S . . 0.2524272 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.137 . . 103.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N1787S|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.9266 -1.073 -0.927 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.137 . . exonic exonic exonic . . 0.133 @ . . . 0.4 0.29 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.097 . . 0.262 . . . 0.417 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.360 . . 0.341 . . . . . . 0 0.599 . . . . . 0.153 . 0.009 . HET 0.03 . . . . . . . . . . . . . V.95 . . 1.IV 3.32E-4 . 0.060000 . . . . . . 0.051 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.001 0.001000 . . 0.060000 . . 1.0000000000000001E-233 0.152 0.235 . 0.083 0.013 . 0.268 . 0.095 0.001 0.804 . . . rs75678672 rs75678672 1 1538 10 1/0 0,238,255 +rs376286864 2 97911728 G A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911728 97911728 Chr2(GRCh37):g.97911728G>A 5326 5326 NM_001354587.1:c.5326G>A p.Asp1776Asn p.Asp1776Asn 71 -81 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs376286864 no no 0 G 0.000000 0 transition G A G>A 0.024 -0.198 D Asp GAC 0.539 N Asn AAC 0.536 1776 12 4 Olive baboon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 95.81 0.00 Tolerated 0.87 II.77 248 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G5404A:p.D1802N . . 0.3 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.231 . . 80.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1802N|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.1483 -1.174 -1.148 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.130 . . exonic exonic exonic . . 0.072 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.022 . . 0.357 . . . 0.044 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.424 . . 0.257 . . . . . . 0 0.142 . . . . . 0.056 . 0.026 . HET 0.25 rs376286864 . . . . . . . . . . . . II.29 . . 1.IV -1.9 . 0.200000 . . . . . . 0.073 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.430 -0.430000 . . 0.200000 . . 1.0E-248 1.000 0.715 . 0.114 0.019 . 0.311 . 0.281 -0.430 -0.297 . . . rs376286864 rs376286864 1 1538 10 1/0 0,255,255 +rs370986739 2 97911732 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911732 97911732 Chr2(GRCh37):g.97911732A>G 5330 5330 NM_001354587.1:c.5330A>G p.Asn1777Ser p.Asn1777Ser 71 -77 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.54106 0 rs370986739 no no 0 A 0.000000 0 transition A G A>G 0.039 0.286 N Asn AAT 0.464 S Ser AGT 0.149 1777 12 10 Tetraodon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 46.24 0.00 Tolerated 0.34 II.77 242 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A5408G:p.N1803S . . 0.28169015 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.026 . @ . . . . . 1 0.154 . . 71.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N1803S|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.8141 -0.981 -0.814 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.141 @ . . . 0.39 0.27 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.318 . . 0.107 . . . 0.663 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.770 . . 0 0 0 0 0 0 . 0.670 . . 0.708 . . . . . . 0 0.285 . . . . . 0.130 . 0.111 . HET 0.01 rs370986739 . . . . . . . . . . . . IV.35 . . 1.IV 0.142 . 0.110000 . . . . . . 0.209 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.033 0.033000 . . 0.110000 . . 1.0E-242 0.952 0.329 . 0.043 0.069 . 0.232 . 0.004 0.033 0.804 . . . rs79069163 rs370986739 1 1538 10 1/0 0,255,255 +rs374627587 2 97911750 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911750 97911750 Chr2(GRCh37):g.97911750A>G 5348 5348 NM_001354587.1:c.5348A>G p.Glu1783Gly p.Glu1783Gly 71 -59 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.39722 0 rs374627587 no no 0 A 0.000000 0 transition A G A>G 0.016 0.286 E Glu GAA 0.417 G Gly GGA 0.246 1783 12 4 Pig -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 199.49 0.00 Tolerated 0.27 II.77 243 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A5426G:p.E1809G . . 0.28070176 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.067 . @ . . . . . 1 0.376 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1809G|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.4110 -0.678 -0.411 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.179 . . exonic exonic exonic . . 0.141 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.367 . . 0.120 . . . 0.800 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.918 . . 0 0 0 0 0 0 . 0.764 . . 0.754 . . . . . . 0 0.682 . . . . . 0.129 . 0.107 . HET 0.06 rs374627587 . . . . . . . . . . . . IV.04 . . 1.IV 0.143 . 0.010000 . . . . . . 0.256 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.036 0.036000 . . 0.010000 . . 1.0E-243 0.990 0.367 . 0.043 0.100 . 0.573 . 0.096 0.036 -0.066 . . . rs374627587 rs374627587 1 1538 10 1/0 0,255,255 +rs376171173 2 97911752 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97911752 97911752 Chr2(GRCh37):g.97911752C>T 5350 5350 NM_001354587.1:c.5350C>T p.Leu1784= p.Leu1784Leu 71 -57 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.26843 0 rs376171173 no no 0 C 0.000000 0 transition C T C>T 0.008 -0.198 L Leu CTG 0.404 L Leu TTG 0.127 1784 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C5428T:p.L1810L . . 0.33962265 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1810|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.3894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.25 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376171173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2922554 rs2922554 rs2922554 rs2922554 1 1538 10 1/0 0,255,255 +rs370246796 2 97911762 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911762 97911762 Chr2(GRCh37):g.97911762C>T 5360 5360 NM_001354587.1:c.5360C>T p.Ser1787Leu p.Ser1787Leu 71 -47 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.0998 0 rs370246796 no no 0 C 0.000000 0 transition C T C>T 0.016 -0.360 S Ser TCG 0.056 L Leu TTG 0.127 1787 12 2 Chimp -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 144.08 0.00 Tolerated 1 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C5438T:p.S1813L . . 0.3529412 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.001 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1813L|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -2.1564 -2.032 -2.156 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.040 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.045 0.002 . . 37 . 0.007 . . 0.449 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.053 . 0.160 . HET 1 rs370246796 . . . . . . . . . . . . II.59 . . 1.IV -2.03 . 1.000000 . . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.397 -0.397000 . . 1.000000 . . 1.0E-255 0.999 0.424 . 0.062 0.170 . 0.320 . 0.019 -0.397 -0.520 . . . rs370246796 rs370246796 1 1538 10 1/0 0,255,255 +. 2 97911776 T C - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911776 97911776 Chr2(GRCh37):g.97911776T>C 5374 5374 NM_001354587.1:c.5374T>C p.Cys1792Arg p.Cys1792Arg 71 -33 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 3.26832 0 transition T C T>C 0.000 0.286 C Cys TGC 0.552 R Arg CGC 0.190 1792 12 4 Olive baboon -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 232.06 I.62 Tolerated 0.34 II.77 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.T5452C:p.C1818R . . 0.39473686 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.029 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C1818R|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.9443 -1.122 -0.944 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.133 . . exonic exonic exonic . . 0.140 @ . . . 0.36 0.28 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.261 . . 0.169 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.824 . . 0 0 0 0 0 0 . 0.689 . . 0.782 . . . . . . 0 0.139 . . . . . 0.130 . 0.248 . HET 0.33 . . . . . . . . . . . . . IV.35 . . 1.IV 0.14 . 0.340000 . . . . . . 0.130 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.033 0.033000 . . 0.340000 . . 1.0E-255 0.590 0.274 . 0.016 0.115 . 0.230 . 0.004 0.033 0.755 . . . rs79283634 rs200778176 1 1538 10 1/0 0,255,255 +rs367900895 2 97911778 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97911778 97911778 Chr2(GRCh37):g.97911778C>T 5376 5376 NM_001354587.1:c.5376C>T p.Cys1792= p.Cys1792Cys 71 -31 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.34728 0 rs367900895 no no 0 C 0.000000 0 transition C T C>T 0.024 0.286 C Cys TGC 0.552 C Cys TGT 0.448 1792 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C5454T:p.C1818C . . 0.42424244 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C1818|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.0029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367900895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs367900895 rs367900895 1 1538 10 1/0 0,0,0 +. 2 97915799 T A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915799 97915799 Chr2(GRCh37):g.97915799T>A 5725-82 5725-82 NM_001354587.1:c.5725-82T>A p.? p.? 75 74 -82 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.69172 0 97915798 -5.96791 transversion T A T>A 0.091 0.125 248 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.3360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.28 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . rs201442943 rs201442943 1 1538 10 1/0 0,255,255 +. 2 97915812 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915812 97915812 Chr2(GRCh37):g.97915812A>G 5725-69 5725-69 NM_001354587.1:c.5725-69A>G p.? p.? 75 74 -69 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.77203 0 97915812 -83.139 transition A G A>G 0.055 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.3405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.24 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62156864 rs62156864 rs62156864 rs199734252 1 1538 10 1/0 0,255,255 +rs370611582 2 97915853 A T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915853 97915853 Chr2(GRCh37):g.97915853A>T 5725-28 5725-28 NM_001354587.1:c.5725-28A>T p.? p.? 75 74 -28 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.85729 0 rs370611582 no no 0 A 0.000000 0 transversion A T A>T 0.031 -0.602 242 PASS . . . . . . . . . . . . . . . . 0.28125 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.3415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370611582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . rs370611582 rs370611582 1 1538 10 1/0 0,244,255 +. 2 97915886 G GC - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 duplication frameshift exon GRCh37 97915887 97915888 Chr2(GRCh37):g.97915887dup 5731 5731 NM_001354587.1:c.5731dup p.Gln1911Profs*4 p.Gln1911Profs*4 75 7 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.883437 2.65177 -0.00405781 rs752428198 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . ANKRD36:uc010yva.2:exon75:c.5809dupC:p.L1936fs ANKRD36:NM_001164315:exon75:c.5809dupC:p.L1936fs . . 0.30526316 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 95 . . FRAME_SHIFT(HIGH||||ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.75) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs752428198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,52 +rs879139148 2 97915966 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915966 97915966 Chr2(GRCh37):g.97915966C>G *6+56 *6+56 NM_001354587.1:c.*6+56C>G p.? p.? 75 75 56 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 I.91 0 New Donor Site 97915965 8.59132 0.933171 78.1641 rs879139148 no no 0 C 0.000000 0 transversion C G C>G 0.031 -1.247 186 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.4753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.21 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . rs3970435 rs3970435 rs3970435 rs3970435 1 1538 10 1/0 0,240,255 +. 2 97915978 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915978 97915978 Chr2(GRCh37):g.97915978C>T *6+68 *6+68 NM_001354587.1:c.*6+68C>T p.? p.? 75 75 68 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 1.61681 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000075 0.000000 0.000000 0.000075 1 0 0 0 0 0 1 0 0 27414 8084 558 216 1026 0 13330 3362 838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition C T C>T 0.000 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.10666667 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.5711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.648e-05 0 0 0 0 7.502e-05 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 2 98123421 AG A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 deletion intron GRCh37 98123422 98123422 Chr2(GRCh37):g.98123422del *6+77 *6+77 NM_025190.3:c.*6+77del p.? p.? 43 43 77 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 1.31413 0 C 255 Pass . . . . . . . . . . . . . . . . 0.1904762 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 63 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,72 +. 2 98123431 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123431 98123431 Chr2(GRCh37):g.98123431G>A *6+68 *6+68 NM_025190.3:c.*6+68C>T p.? p.? 43 43 68 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 1.61681 0 transition C T C>T 0.008 -0.763 188 PASS . . . . . . . . . . . . . . . . 0.13235295 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.5885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +. 2 98123443 G C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123443 98123443 Chr2(GRCh37):g.98123443G>C *6+56 *6+56 NM_025190.3:c.*6+56C>G p.? p.? 43 43 56 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 I.91 0 New Donor Site 98123444 8.59132 0.933171 78.1641 transversion C G C>G 0.488 -0.602 208 PASS . . . . . . . . . . . . . . . . 0.18055555 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.1075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.37 0.16 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . rs3970435 rs3970435 rs3970435 rs3970435 1 1538 10 1/0 0,247,255 +. 2 98123493 A G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123493 98123493 Chr2(GRCh37):g.98123493A>G *6+6 *6+6 NM_025190.3:c.*6+6T>C p.? p.? 43 43 6 5' 89.5197 9.78772 0.981514 1.47242 83.7411 9.54919 0.955049 0 -0.0386283 transition T C T>C 0.980 -0.037 201 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . 0.5362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.45 0.26 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs200556363 rs200556363 1 1538 10 1/0 0,235,255 +. 2 98123513 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98123513 98123513 Chr2(GRCh37):g.98123513C>T 4054 4054 NM_025190.3:c.4054G>A p.Glu1352Lys p.Glu1352Lys 43 -15 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 0.763048 0 transition G A G>A 0.189 -0.360 E Glu GAG 0.583 K Lys AAG 0.575 1352 12 4 Zebrafish 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 95.81 21.98 Tolerated 0.19 II.72 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon43:c.G4054A:p.E1352K . . 0.5 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.070 . @ . . . . . 1 0.003 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1352K|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.43) . . . . . . . -0.2537 -0.187 -0.254 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.101 @ . . . 0.31 0.18 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.010 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.176 . 0.186 . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.063 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.741 0.288 . 0.043 0.004 . 0.062 . 0.006 . -1.297 . rs2309084 rs2309084 rs2309084 rs201369506 1 1538 10 1/0 0,255,255 +. 2 98123514 A G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98123514 98123514 Chr2(GRCh37):g.98123514A>G 4053 4053 NM_025190.3:c.4053T>C p.Phe1351= p.Phe1351Phe 43 15 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.872023 3.02835 -0.00831205 transition T C T>C 0.189 -0.521 F Phe TTT 0.454 F Phe TTC 0.546 1351 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon43:c.T4053C:p.F1351F . . 0.52040815 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F1351|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.43) . . . . . . . -0.2730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.34 0.18 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2871115 rs2871115 rs2871115 rs199683914 1 1538 10 1/0 0,255,255 +. 2 98123521 T TG - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 duplication frameshift exon GRCh37 98123521 98123522 Chr2(GRCh37):g.98123522dup 4045 4045 NM_025190.3:c.4045dup p.Gln1349Profs*4 p.Gln1349Profs*4 43 7 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.883437 2.65177 -0.00405781 C 255 Pass . . . . . . . . . . . . . ANKRD36B:NM_025190:exon43:c.4045dupC:p.Q1349fs . . 0.34444445 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 90 . . FRAME_SHIFT(HIGH||||ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.43) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 2 98123556 T A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123556 98123556 Chr2(GRCh37):g.98123556T>A 4039-28 4039-28 NM_025190.3:c.4039-28A>T p.? p.? 43 42 -28 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.85729 0 transversion A T A>T 0.102 -1.005 236 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.2828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 2 98123574 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123574 98123574 Chr2(GRCh37):g.98123574G>A 4039-46 4039-46 NM_025190.3:c.4039-46C>T p.? p.? 43 42 -46 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.47507 0 transition C T C>T 0.008 -0.037 213 PASS . . . . . . . . . . . . . . . . 0.19512194 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.2226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.32 0.09 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs62157179 rs62157179 rs62157179 rs62157179 1 1538 10 1/0 0,243,255 +. 2 98123597 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123597 98123597 Chr2(GRCh37):g.98123597T>C 4039-69 4039-69 NM_025190.3:c.4039-69A>G p.? p.? 43 42 -69 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.77203 0 98123597 -83.139 transition A G A>G 0.055 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.3121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.26 0.11 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62156864 rs62156864 rs62156864 rs62156864 1 1538 10 1/0 0,255,255 +. 2 98123610 A T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123610 98123610 Chr2(GRCh37):g.98123610A>T 4039-82 4039-82 NM_025190.3:c.4039-82T>A p.? p.? 43 42 -82 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.69172 0 98123611 -5.96791 transversion T A T>A 0.094 0.125 227 PASS . . . . . . . . . . . . . . . . 0.2361111 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.3173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 2 98127631 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98127631 98127631 Chr2(GRCh37):g.98127631G>A 3690 3690 NM_025190.3:c.3690C>T p.Cys1230= p.Cys1230Cys 39 -31 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.34728 0 transition C T C>T 0.008 0.286 C Cys TGC 0.552 C Cys TGT 0.448 1230 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3690T:p.C1230C . . 0.35714287 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 42.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C1230|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 98127633 A G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127633 98127633 Chr2(GRCh37):g.98127633A>G 3688 3688 NM_025190.3:c.3688T>C p.Cys1230Arg p.Cys1230Arg 39 -33 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 3.26832 0 transition T C T>C 0.000 0.286 C Cys TGC 0.552 R Arg CGC 0.190 1230 12 4 Olive baboon -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 232.06 I.62 Tolerated 0.33 II.72 bad 6.735E-3 0.05487 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.T3688C:p.C1230R . . 0.4318182 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.069 . @ . . . . . 1 0.007 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C1230R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.2151 -0.159 -0.215 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.141 @ . . . 0.58 0.28 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.640 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.130 . 0.025 . HET 0.31 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.116 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.998 0.411 . 0.016 0.113 . 0.328 . 0.003 . 0.804 . . . rs79283634 rs79283634 1 1538 10 1/0 0,255,255 +rs575612756 2 98127647 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127647 98127647 Chr2(GRCh37):g.98127647G>A 3674 3674 NM_025190.3:c.3674C>T p.Ser1225Leu p.Ser1225Leu 39 -47 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.0998 0 0.000150 0.000154 0.000000 0.000000 0.000784 0.000000 0.000081 0.000000 0.000000 0.000784 5 1 0 0 3 0 1 0 0 33384 6514 3850 764 3826 3050 12382 2020 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 3 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.037 S Ser TCG 0.056 L Leu TTG 0.127 1225 12 2 Chimp -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 144.08 0.00 Tolerated 1 II.73 good 4.798E-1 0.1929 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3674T:p.S1225L . . 0.46938777 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.073 . @ . . . . . 1 0.065 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1225L|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.0563 -0.129 -0.056 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.141 0.0002 . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.001 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.099 . 0.114 . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.026 . . . 0 0.0002 0 0 0.0006 0 0.0002 0 0 0.0002 0.0001 0 0 0.0013 0 0 0 . . 0.042 . . . . . . . . 1.0E-255 1.000 0.715 . 0.150 0.224 . 0.432 . 0.098 . -0.489 . . . . . 1 1538 10 1/0 0,255,255 +. 2 98127657 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98127657 98127657 Chr2(GRCh37):g.98127657G>A 3664 3664 NM_025190.3:c.3664C>T p.Leu1222= p.Leu1222Leu 39 -57 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.26843 0 transition C T C>T 0.008 -0.198 L Leu CTG 0.404 L Leu TTG 0.127 1222 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3664T:p.L1222L . . 0.38709676 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1222|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.4336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.58 0.23 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2922554 rs2922554 rs2922554 rs2922554 1 1538 10 1/0 0,255,255 +. 2 98127659 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127659 98127659 Chr2(GRCh37):g.98127659T>C 3662 3662 NM_025190.3:c.3662A>G p.Glu1221Gly p.Glu1221Gly 39 -59 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.39722 0 transition A G A>G 0.016 1.416 E Glu GAA 0.417 G Gly GGA 0.246 1221 12 4 Pig -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 199.49 0.00 Tolerated 0.3 II.72 bad 9.192E-4 0.001344 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3662G:p.E1221G . . 0.36666667 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.055 . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1221G|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2711 -0.080 0.271 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.818 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.518 . . 0.419 . . . . . . 0 . . . . . . 0.232 . 0.185 . HET 0.13 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.294 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.987 0.361 . 0.095 0.199 . 0.629 . 0.281 . 0.755 . . . . . 1 1538 10 1/0 0,255,255 +. 2 98127669 A T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127669 98127669 Chr2(GRCh37):g.98127669A>T 3652 3652 NM_025190.3:c.3652T>A p.Leu1218Met p.Leu1218Met 39 -69 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 3.11076 0 transversion T A T>A 0.000 0.286 L Leu TTG 0.127 M Met ATG 1.000 1218 12 11 Zebrafish 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 14.30 0.00 Tolerated 0.05 II.72 good 4.028E-1 0.06459 175 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.T3652A:p.L1218M . . 0.103896104 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.020 . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Atg|L1218M|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.0259 -0.131 -0.026 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.852 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.689 . . 0.764 . . . . . . 0 . . . . . . 0.119 . 0.241 . LowAF 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.200 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-175 0.968 0.339 . 0.090 0.070 . 0.300 . 0.286 . 0.804 . . . . . 1 1538 10 1/0 0,237,255 +. 2 98127677 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127677 98127677 Chr2(GRCh37):g.98127677T>C 3644 3644 NM_025190.3:c.3644A>G p.Asn1215Ser p.Asn1215Ser 39 -77 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.54106 0 transition A G A>G 0.047 1.416 N Asn AAT 0.464 S Ser AGT 0.149 1215 12 10 Tetraodon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 46.24 0.00 Tolerated 0.3 II.72 good 2.777E-2 0.004316 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3644G:p.N1215S . . 0.37037036 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.037 . . 81.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N1215S|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1508 -0.097 0.151 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.61 0.32 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.697 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.604 . . 0.649 . . . . . . 0 . . . . . . 0.232 . 0.193 . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.244 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.998 0.411 . 0.016 0.033 . 0.270 . 0.003 . 0.755 . . . rs79069163 rs79069163 1 1538 10 1/0 0,255,255 +. 2 98127681 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127681 98127681 Chr2(GRCh37):g.98127681C>T 3640 3640 NM_025190.3:c.3640G>A p.Asp1214Asn p.Asp1214Asn 39 -81 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 0.000286 0.000976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000976 4 4 0 0 0 0 0 0 0 13972 4100 476 138 564 0 6064 2182 448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 29 Genomes transition G A G>A 0.031 -0.198 D Asp GAC 0.539 N Asn AAC 0.536 1214 12 4 Olive baboon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 95.81 0.00 Tolerated 0.86 II.72 good 2.966E-1 0.1625 252 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3640A:p.D1214N . . 0.31325302 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.043 . . 83.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1214N|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0003 -0.123 0.000 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.072 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.044 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.318 . . 0.216 . . . . . . 0 . . . . . . 0.056 . 0.003 . HET 0.48 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.066 . . . . . . . . . . . . 0.0010 0.0003 0 0 0 0 0 0 . . 0.042 . . . . . . . . 1.0000000000000001E-252 1.000 0.715 . 0.062 0.009 . 0.259 . 0.076 . -0.334 . . . . . 1 1538 10 1/0 0,253,255 +. 2 98127725 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127725 98127725 Chr2(GRCh37):g.98127725T>C 3596 3596 NM_025190.3:c.3596A>G p.Asn1199Ser p.Asn1199Ser 39 -125 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 transition A G A>G 0.000 -0.279 N Asn AAC 0.536 S Ser AGC 0.243 1199 12 4 Olive baboon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 162.29 VI.18 Tolerated 0.19 II.72 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3596G:p.N1199S . . 0.33333334 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.125 . @ . . . . . 1 0.113 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N1199S|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.1892 -0.163 -0.189 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.066 @ . . . 0.67 0.4 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.469 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.219 . . 0.112 . . . . . . 0 . . . . . . 0.055 . 0.019 . HET 0.03 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.390 0.259 . 0.043 0.014 . 0.229 . 0.076 . 0.755 . . . rs75678672 rs75678672 1 1538 10 1/0 0,245,255 +rs556831102 2 98127729 G C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127729 98127729 Chr2(GRCh37):g.98127729G>C 3592 3592 NM_025190.3:c.3592C>G p.Gln1198Glu p.Gln1198Glu 39 -129 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs556831102 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 transversion C G C>G 0.000 -0.037 Q Gln CAA 0.256 E Glu GAA 0.417 1198 12 4 Olive baboon 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 157.09 0.00 Tolerated 1 II.72 unknown 0.0 0.0 255 PASS . . . . . . 0.0002 . 0.001 . . . . ANKRD36B:NM_025190:exon39:c.C3592G:p.Q1198E . . 0.35576922 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.129 . @ . . . . . 1 0.097 . . 104.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q1198E|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.0488 -0.137 -0.049 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.140 0.0002 . . . 0.71 0.28 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.016 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.184 . . 0.080 . . . . . . 0 . . . . . . 0.039 . 0.032 . HET 0.76 rs556831102 . . . . . . . . . . . . . . . . . . . . . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.010 0.182 . 0.074 0.002 . 0.329 . 0.059 . -0.654 . . . rs76463801 rs76463801 1 1538 10 1/0 0,248,255 +. 2 98127741 C G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127741 98127741 Chr2(GRCh37):g.98127741C>G 3580 3580 NM_025190.3:c.3580G>C p.Asp1194His p.Asp1194His 39 -141 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 transversion G C G>C 0.071 -0.037 D Asp GAT 0.461 H His CAT 0.413 1194 12 4 Olive baboon 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 155.40 0.00 Tolerated 0.12 II.72 unknown 0.0 0.0 205 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3580C:p.D1194H . . 0.17272727 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.161 . @ . . . . . 1 0.115 . . 110.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D1194H|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2813 -0.077 0.281 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.157 @ . . . 0.65 0.19 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.026 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.112 . . 0.063 . . . . . . 0 . . . . . . 0.071 . 0.049 . HET 0.31 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.092 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-205 1.000 0.715 . 0.062 0.000 . 0.352 . 0.054 . -1.040 . rs2951081 rs2951081 rs2951081 rs2951081 1 1538 10 1/0 0,229,255 +. 2 98127923 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127923 98127923 Chr2(GRCh37):g.98127923T>C 3398 3398 NM_025190.3:c.3398A>G p.Gln1133Arg p.Gln1133Arg 39 -323 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 transition A G A>G 0.685 0.528 Q Gln CAA 0.256 R Arg CGA 0.110 1133 12 9 Grenn anole 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 56.64 0.00 Tolerated 0.49 II.72 unknown 0.0 0.0 178 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3398G:p.Q1133R . . 0.10989011 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.087 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q1133R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2280 -0.098 0.228 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.36 0.11 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.087 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.241 . . 0.112 . . . . . . 0 . . . . . . 0.062 . 0.024 . LowAF 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.250 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-178 0.998 0.411 . 0.143 0.043 . 0.412 . 0.084 . 0.755 . . . rs76393995 rs200574546 1 1538 10 1/0 0,231,255 +. 2 98127993 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127993 98127993 Chr2(GRCh37):g.98127993C>T 3328 3328 NM_025190.3:c.3328G>A p.Gly1110Arg p.Gly1110Arg 39 -393 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 transition G A G>A 0.835 0.286 G Gly GGA 0.246 R Arg AGA 0.205 1110 12 2 Chimp -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 247.86 0.00 Tolerated 0.63 II.74 good 7.072E-1 0.7796 194 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3328A:p.G1110R . . 0.14634146 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.097 . @ . . . . . 1 0.020 . . 82.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1110R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.2089 -0.159 -0.209 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.140 @ . . . 0.72 0.34 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.002 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.132 . 0.047 . LowAF 0.94 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-194 0.002 0.151 . 0.181 0.025 . 0.320 . 0.084 . -1.513 . . . rs79386559 rs201258098 1 1538 10 1/0 0,238,255 +rs2595354 2 98128014 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128014 98128014 Chr2(GRCh37):g.98128014T>C 3307 3307 NM_025190.3:c.3307A>G p.Lys1103Glu p.Lys1103Glu 39 -414 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs2595354 no no 0 T 0.000000 0 transition A G A>G 0.953 0.528 K Lys AAA 0.425 E Glu GAA 0.417 1103 12 3 Grenn anole 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 56.87 0.00 Tolerated 1 II.72 good 9.805E-1 0.1341 191 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3307G:p.K1103E . . 0.13793103 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.065 . @ . . . . . 1 0.012 . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1103E|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0449 -0.113 0.045 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.160 @ . . . 0.69 0.39 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.013 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.190 . 0.029 . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.048 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-191 0.998 0.411 . 0.043 0.032 . 0.380 . 0.002 . -0.672 . rs2595354 rs2595354 rs2595354 rs199799974 1 1538 10 1/0 0,235,255 +rs74322178 2 98128093 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128093 98128093 Chr2(GRCh37):g.98128093G>A 3228 3228 NM_025190.3:c.3228C>T p.His1076= p.His1076His 39 423 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 Cryptic Acceptor Weakly Activated 98128086 8.71889 0.310379 85.8961 9.09192 0.509198 87.4067 rs74322178 no no 0 G 0.000000 0 transition C T C>T 0.063 -0.602 H His CAC 0.587 H His CAT 0.413 1076 196 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3228T:p.H1076H . . 0.14942528 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H1076|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.2069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.72 0.3 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs74322178 rs74322178 1 1538 10 1/0 0,236,255 +rs879076964 2 98128098 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128098 98128098 Chr2(GRCh37):g.98128098G>A 3223 3223 NM_025190.3:c.3223C>T p.Arg1075Cys p.Arg1075Cys 39 418 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 Cryptic Acceptor Strongly Activated 98128086 8.71889 0.310379 85.8961 9.41051 0.404307 89.2107 rs879076964 no no 0 G 0.000000 0 transition C T C>T 0.039 -0.279 R Arg CGT 0.082 C Cys TGT 0.448 1075 12 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 220.83 0.00 Tolerated 0.2 II.72 unknown 0.0 0.0 204 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3223T:p.R1075C . . 0.17045455 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.054 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1075C|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.1349 -0.149 -0.135 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.152 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.006 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.177 . 0.101 . HET 0.43 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.099 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-204 1.000 0.715 . 0.090 0.010 . 0.237 . 0.100 . -1.103 . . . . . 1 1538 10 1/0 0,237,255 +rs77554739 2 98128099 A C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128099 98128099 Chr2(GRCh37):g.98128099A>C 3222 3222 NM_025190.3:c.3222T>G p.Cys1074Trp p.Cys1074Trp 39 417 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77554739 no no 0 A 0.000000 0 transversion T G T>G 0.220 0.044 C Cys TGT 0.448 W Trp TGG 1.000 1074 12 2 Chimp -5 -2 -5 II.75 0.13 5.V 5.IV 55 170 215 C0 236.20 0.00 Tolerated 1 II.72 unknown 0.0 0.0 196 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.T3222G:p.C1074W . . 0.15053764 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 1 0.005 . . 93.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgT/tgG|C1074W|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.0659 -0.138 -0.066 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.112 @ . . . 0.75 0.35 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.002 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.146 . 0.260 . HET 0.52 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-196 1.000 0.715 . 0.108 0.015 . 0.440 . 0.068 . -0.995 . . . rs77554739 rs77554739 1 1538 10 1/0 0,233,255 +rs77670346 2 98128135 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128135 98128135 Chr2(GRCh37):g.98128135G>A 3186 3186 NM_025190.3:c.3186C>T p.Asp1062= p.Asp1062Asp 39 381 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77670346 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.945 0.448 D Asp GAC 0.539 D Asp GAT 0.461 1062 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3186T:p.D1062D . . 0.44354838 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1062|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.4182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.74 0.32 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77670346 rs200814958 1 1538 10 1/0 0,240,250 +rs78029304 2 98128143 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128143 98128143 Chr2(GRCh37):g.98128143T>C 3178 3178 NM_025190.3:c.3178A>G p.Lys1060Glu p.Lys1060Glu 39 373 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs78029304 no no 0 T 0.000000 0 transition A G A>G 0.976 -0.682 K Lys AAA 0.425 E Glu GAA 0.417 1060 12 8 Tetraodon 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 243.06 0.00 Tolerated 0.24 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3178G:p.K1060E . . 0.50735295 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.010 . . 136.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1060E|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0128 -0.118 0.013 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.051 @ . . . 0.72 0.42 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.484 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.231 . 0.138 . HET 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.233 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.976 0.346 . 0.183 0.921 . 0.272 . 0.004 . -0.143 . . . rs78029304 rs201832547 1 1538 10 1/0 0,238,241 +. 2 98128150 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128150 98128150 Chr2(GRCh37):g.98128150G>A 3171 3171 NM_025190.3:c.3171C>T p.His1057= p.His1057His 39 366 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transition C T C>T 0.827 0.044 H His CAC 0.587 H His CAT 0.413 1057 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3171T:p.H1057H . . 0.49285713 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H1057|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.76 0.34 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75626580 rs199988876 1 1538 10 1/0 0,238,246 +rs74900052 2 98128172 C A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128172 98128172 Chr2(GRCh37):g.98128172C>A 3149 3149 NM_025190.3:c.3149G>T p.Arg1050Leu p.Arg1050Leu 39 344 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs74900052 yes no Frequency 1 C 0.000000 0 0.000015 0.000000 0.000076 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000076 2 0 2 0 0 0 0 0 0 131576 2762 26272 5080 13446 25392 47494 8360 2770 0.500000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transversion G T G>T 0.000 -0.682 R Arg CGA 0.110 L Leu CTA 0.070 1050 12 1 -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 269.39 0.00 Tolerated 0.7 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3149T:p.R1050L . . 0.6820809 . . @ 118 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.036 . . 173.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cTa|R1050L|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.4659 -0.194 -0.466 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.050 @ . . . 0.74 0.35 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.004 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.070 . 0.120 . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . 0 1.52e-05 7.613e-05 0 0 0 0 0 0 . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.005 0.169 . 0.043 0.024 . 0.330 . 0.093 . -0.930 . . . rs74900052 rs199831829 1 1538 10 1/0 0,231,226 +. 2 98128183 C G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128183 98128183 Chr2(GRCh37):g.98128183C>G 3138 3138 NM_025190.3:c.3138G>C p.Leu1046= p.Leu1046Leu 39 333 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transversion G C G>C 0.024 0.609 L Leu CTG 0.404 L Leu CTC 0.197 1046 254 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3138C:p.L1046L . . 0.31666666 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 180.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctC|L1046|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.78 0.41 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs201935800 rs201935800 1 1538 10 1/0 0,219,255 +. 2 98128194 G C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128194 98128194 Chr2(GRCh37):g.98128194G>C 3127 3127 NM_025190.3:c.3127C>G p.Arg1043Gly p.Arg1043Gly 39 322 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131700 2778 26282 5078 13450 25386 47582 8368 2776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transversion C G C>G 0.110 0.609 R Arg CGT 0.082 G Gly GGT 0.162 1043 12 10 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 241.31 22.66 Deleterious 0.01 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3127G:p.R1043G . . 0.7 . . @ 126 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.009 . . 180.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R1043G|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0659 -0.099 0.066 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.169 @ . . . 0.72 0.33 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.761 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.365 . . 0.248 . . . . . . 0 . . . . . . 0.199 . 0.236 . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.293 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.031 . . . . . . . . 1.0E-255 1.000 0.715 . 0.114 0.261 . 0.514 . 0.081 . 0.697 . . . rs150462050 rs150462050 1 1538 10 1/0 0,230,225 +. 2 98128195 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128195 98128195 Chr2(GRCh37):g.98128195G>A 3126 3126 NM_025190.3:c.3126C>T p.Tyr1042= p.Tyr1042Tyr 39 321 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 Cryptic Acceptor Strongly Activated 98128186 3.63196 0.032744 75.2347 3.92569 0.081331 77.9466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131728 2778 26282 5080 13454 25392 47596 8370 2776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition C T C>T 0.150 0.205 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1042 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3126T:p.Y1042Y . . 0.70718235 . . @ 128 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 181.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y1042|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.72 0.32 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149359707 rs149359707 1 1538 10 1/0 0,229,224 +. 2 98128196 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128196 98128196 Chr2(GRCh37):g.98128196T>C 3125 3125 NM_025190.3:c.3125A>G p.Tyr1042Cys p.Tyr1042Cys 39 320 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131706 2776 26286 5078 13452 25390 47582 8366 2776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition A G A>G 0.205 0.367 Y Tyr TAC 0.562 C Cys TGC 0.552 1042 12 7 Platypus -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 255.37 0.00 Tolerated 0.12 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3125G:p.Y1042C . . 0.7032967 . . @ 128 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.087 . @ . . . . . 1 0.035 . . 182.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1042C|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2660 -0.074 0.266 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.222 @ . . . 0.72 0.4 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.684 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.715 . . 0.616 . . . . . . 0 . . . . . . 0.080 . 0.577 . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.214 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.031 . . . . . . . . 1.0E-255 0.998 0.411 . 0.157 0.371 . 0.334 . 0.281 . 0.755 . . . rs148539055 rs148539055 1 1538 10 1/0 0,230,225 +. 2 98128234 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128234 98128234 Chr2(GRCh37):g.98128234T>C 3087 3087 NM_025190.3:c.3087A>G p.Arg1029= p.Arg1029Arg 39 282 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transition A G A>G 0.346 0.286 R Arg AGA 0.205 R Arg AGG 0.207 1029 185 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3087G:p.R1029R . . 0.12244898 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 245.0 . . SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R1029|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.75 0.43 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs199956303 rs199956303 1 1538 10 1/0 0,189,255 +. 2 98128256 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128256 98128256 Chr2(GRCh37):g.98128256C>T 3065 3065 NM_025190.3:c.3065G>A p.Arg1022His p.Arg1022His 39 260 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000054 0.000000 0.000051 0.000000 0.000000 0.000204 0.000000 0.000000 0.000000 0.000204 5 0 1 0 0 4 0 0 0 93114 3256 19496 4366 9656 19634 28158 6460 2088 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 61 Exomes transition G A G>A 0.748 -0.279 R Arg CGT 0.082 H His CAT 0.413 1022 12 6 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.15 II.75 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3065A:p.R1022H . . 0.7105263 . . @ 162 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.085 . . 228.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1022H|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.4380 -0.184 -0.438 n . . . . . 3.285e-05 . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.083 @ . . . 0.74 0.37 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.088 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.600 . . 0.286 . . . . . . 0 . . . . . . 0.161 . 0.491 . HET 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.024 . . . 0 5.37e-05 5.129e-05 0 0 0 0 0 0.0002 . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.001 0.137 . 0.016 0.031 . 0.043 . 0.018 . -1.837 . rs62157160 rs62157160 rs62157160 rs140876104 1 1538 10 1/0 0,231,230 +. 2 98128258 G C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128258 98128258 Chr2(GRCh37):g.98128258G>C 3063 3063 NM_025190.3:c.3063C>G p.Leu1021= p.Leu1021Leu 39 258 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000164 0.000000 0.000000 0.000000 0.000164 3 0 0 0 0 3 0 0 0 87578 3552 17870 4086 8966 18268 26624 6214 1998 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 RF 59 Exomes transversion C G C>G 0.764 -0.360 L Leu CTC 0.197 L Leu CTG 0.404 1021 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3063G:p.L1021L . . 0.69298244 . . @ 158 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctG|L1021|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.2846 . . . . . . . . 3.445e-05 . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.72 0.33 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.426e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62156259 rs62156259 rs62156259 rs148854709 1 1538 10 1/0 0,232,231 +rs770028177 2 98128262 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128262 98128262 Chr2(GRCh37):g.98128262G>A 3059 3059 NM_025190.3:c.3059C>T p.Thr1020Met p.Thr1020Met 39 254 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs770028177 yes no Frequency 1 G 0.000000 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000175 0.000000 0.000000 0.000000 0.000175 3 0 0 0 0 3 0 0 0 83134 3816 16334 3790 8460 17140 25566 6074 1954 0.333333 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 51 Exomes transition C T C>T 0.953 0.286 T Thr ACG 0.116 M Met ATG 1.000 1020 12 4 Olive baboon -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Tolerated 0.23 II.75 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3059T:p.T1020M . . 0.11965812 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.108 . @ . . . . . 1 0.051 . . 234.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1020M|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0709 -0.100 0.071 n . . . . . 3.516e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.003 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.213 . . 0.063 . . . . . . 0 . . . . . . 0.113 . 0.522 . LowAF 1 rs770028177 . . . . . . . . . . . . . . . . . . . . . . . . . 0.097 . . . 0 3.609e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.042 . . . . . . . . 1.0E-183 0.998 0.411 . 0.062 0.153 . 0.368 . 0.045 . -0.297 . . . . . 1 1538 10 1/0 0,191,255 +. 2 98128300 A G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128300 98128300 Chr2(GRCh37):g.98128300A>G 3021 3021 NM_025190.3:c.3021T>C p.Tyr1007= p.Tyr1007Tyr 39 216 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000522 0.000399 0.000000 0.000000 0.000000 0.000533 0.000905 0.000947 0.001178 0.000947 52 3 0 0 0 9 30 7 3 99534 7524 18008 3886 10138 16880 33160 7392 2546 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000060 0.000271 0.000000 2 0 0 0 0 0 1 1 0 48 3 0 0 0 9 28 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.079 1.416 Y Tyr TAT 0.438 Y Tyr TAC 0.562 1007 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.T3021C:p.Y1007Y . . 0.4976744 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 215.0 . . SYNONYMOUS_CODING(LOW|SILENT|taT/taC|Y1007|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.69 0.36 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0 0 0 0.0004 0.0004 0.0009 0.0005 0.0008 0.0024 0 0 0 0.0026 0.0040 0.0027 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79584453 rs200990159 1 1538 10 1/0 0,229,252 +. 2 98128313 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128313 98128313 Chr2(GRCh37):g.98128313G>A 3008 3008 NM_025190.3:c.3008C>T p.Thr1003Met p.Thr1003Met 39 203 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000031 0.000120 0.000000 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 0.000120 3 1 0 0 0 0 2 0 0 97800 8308 17220 3676 10032 16062 32888 7126 2488 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.386 1.739 T Thr ACG 0.116 M Met ATG 1.000 1003 12 9 Zebrafish -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0 II.84 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3008T:p.T1003M . . 0.58208954 . . @ 117 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.133 . @ . . . . . 1 0.134 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1003M|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.3091 -0.064 0.309 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.61 0.29 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.459 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.899 . . 0.749 . . . . . . 0 . . . . . . 0.336 . 0.651 . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.311 . . . 0.0002 3.533e-05 0 0 0 0 7.272e-05 0 0 0 0 0 0 0 0 0 0 . . 0.042 . . . . . . . . 1.0E-255 0.996 0.391 . 0.100 0.349 . 0.455 . 0.070 . 0.697 . rs62156258 rs62156258 rs62156258 rs202131502 1 1538 10 1/0 0,239,254 +. 2 98128364 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128364 98128364 Chr2(GRCh37):g.98128364T>C 2957 2957 NM_025190.3:c.2957A>G p.His986Arg p.His986Arg 39 152 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000026 0.000000 0.000000 0.000000 0.000223 0.000000 0.000000 0.000000 0.000000 0.000223 2 0 0 0 2 0 0 0 0 76108 10634 11678 1870 8964 9064 27446 4444 2008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.961 0.286 H His CAT 0.413 R Arg CGT 0.082 986 12 3 Olive baboon 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 264.55 0.00 Tolerated 0.55 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A2957G:p.H986R . . 0.6037736 . . @ 96 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.113 . . 159.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H986R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2545 -0.088 0.254 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.53 0.3 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.170 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.291 . . 0.176 . . . . . . 0 . . . . . . 0.074 . 0.531 . HET 0.1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.267 . . . 0 1.71e-05 0 0 0.0001 0 0 0 0 0 5.677e-05 0 0 0.0008 0 0 0 . . 0.042 . . . . . . . . 1.0E-255 1.000 0.715 . 0.043 0.327 . 0.287 . 0.085 . 0.755 . rs62156257 rs62156257 rs62156257 rs200630019 1 1538 10 1/0 0,252,255 +rs370929832 2 98128387 G T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128387 98128387 Chr2(GRCh37):g.98128387G>T 2934 2934 NM_025190.3:c.2934C>A p.Asp978Glu p.Asp978Glu 39 129 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs370929832 no no 0 G 0.000000 0 transversion C A C>A 0.543 -0.037 D Asp GAC 0.539 E Glu GAA 0.417 978 12 7 Zebrafish 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 222.81 0.00 Tolerated 1 II.74 unknown 0.0 0.0 194 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C2934A:p.D978E . . 0.144 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.122 . @ . . . . . 1 0.101 . . 125.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D978E|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1809 -0.103 0.181 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.159 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.357 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.360 . . 0.292 . . . . . . 0 . . . . . . 0.032 . 0.628 . LowAF 0 rs370929832 . . . . . . . . . . . . . . . . . . . . . . . . . 0.168 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-194 1.000 0.715 . 0.191 0.213 . 0.215 . 0.281 . -0.287 . . . rs370929832 rs370929832 1 1538 10 1/0 0,221,255 +. 2 98128402 C A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128402 98128402 Chr2(GRCh37):g.98128402C>A 2919 2919 NM_025190.3:c.2919G>T p.Lys973Asn p.Lys973Asn 39 114 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transversion G T G>T 0.976 -0.037 K Lys AAG 0.575 N Asn AAT 0.464 973 12 7 Platypus 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 244.67 0.00 Tolerated 0.35 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G2919T:p.K973N . . 0.57522124 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.195 . @ . . . . . 1 0.127 . . 113.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K973N|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.5028 -0.053 0.503 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.154 @ . . . 0.6 0.35 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.214 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.211 . . 0.112 . . . . . . 0 . . . . . . 0.071 . 0.428 . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.244 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 1.000 0.715 . 0.264 0.788 . 0.317 . 0.278 . -0.122 . . . rs75433754 rs111605455 1 1538 10 1/0 0,255,255 +. 2 98128421 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128421 98128421 Chr2(GRCh37):g.98128421T>C 2900 2900 NM_025190.3:c.2900A>G p.Lys967Arg p.Lys967Arg 39 95 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transition A G A>G 0.299 0.044 K Lys AAA 0.425 R Arg AGA 0.205 967 12 6 Chicken 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 258.92 0.00 Tolerated 0.69 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A2900G:p.K967R . . 0.49514562 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.118 . @ . . . . . 1 0.149 . . 103.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K967R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.3779 -0.074 0.378 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.143 @ . . . 0.51 0.39 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.420 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.206 . . 0.162 . . . . . . 0 . . . . . . 0.094 . 0.088 . HET 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 1.000 0.715 . 0.175 0.689 . 0.246 . 0.084 . -0.247 . . . rs78091509 rs112192400 1 1538 10 1/0 0,255,255 +. 2 98128449 T A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128449 98128449 Chr2(GRCh37):g.98128449T>A 2872 2872 NM_025190.3:c.2872A>T p.Arg958Trp p.Arg958Trp 39 67 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.42702 0 Cryptic Acceptor Strongly Activated 98128441 0.003258 1.56539 0.041127 78.0176 transversion A T A>T 0.890 0.528 R Arg AGG 0.207 W Trp TGG 1.000 958 12 2 Chimp -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 257.76 46.61 Tolerated 0.19 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A2872T:p.R958W . . 0.5 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.025 . . 112.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R958W|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1510 -0.119 0.151 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.56 0.37 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.583 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.370 . . 0.277 . . . . . . 0 . . . . . . 0.062 . 0.245 . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.145 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.676 0.282 . 0.198 0.926 . 0.272 . 0.281 . 0.755 . . rs72931734 rs72931734 rs201852435 1 1538 10 1/0 0,255,255 +. 2 98128472 C A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128472 98128472 Chr2(GRCh37):g.98128472C>A 2849 2849 NM_025190.3:c.2849G>T p.Arg950Leu p.Arg950Leu 39 44 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 7.40937 0 transversion G T G>T 0.394 -0.360 R Arg CGC 0.190 L Leu CTC 0.197 950 12 3 Zebrafish -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 353.86 0.00 Tolerated 0.29 II.75 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . ANKRD36B:uc010yvc.1:exon39:c.G2849T:p.R950L ANKRD36B:NM_025190:exon39:c.G2849T:p.R950L . . 0.35164836 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.017 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R950L|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.1625 -0.168 -0.163 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.055 @ . . . 0.55 0.28 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.294 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.243 . . 0.127 . . . . . . 0 . . . . . . 0.186 . 0.230 . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.175 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.970 0.340 . 0.167 0.012 . 0.346 . 0.018 . -1.026 . . rs71258079 rs71258079 rs200057888 1 1538 10 1/0 0,253,255 +. 2 98128515 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128515 98128515 Chr2(GRCh37):g.98128515C>T 2806 2806 NM_025190.3:c.2806G>A p.Val936Ile p.Val936Ile 39 1 3' 88.2848 9.57438 0.983397 8.09631 84.3739 8.41276 0.973137 7.03174 -0.0586857 transition G A G>A 0.992 -0.037 V Val GTT 0.178 I Ile ATT 0.356 936 12 5 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.8 II.75 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . ANKRD36B:uc010yvc.1:exon39:c.G2806A:p.V936I ANKRD36B:NM_025190:exon39:c.G2806A:p.V936I . . 0.54320985 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.016 . . 81.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V936I|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1787 -0.110 0.179 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.110 @ . . . 0.38 0.15 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 0 . . . . . . 0.300 . 0.140 . HET 0.13 . . . . . . . . . . . . . . . . . . . . . 0.0001 0.03 . . . 0.231 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.874 0.306 . 0.108 0.146 . 0.111 . 0.020 . -0.512 . . . rs75682686 rs113949773 1 1538 10 1/0 0,255,255 +rs79762068 2 98128520 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution splice site GRCh37 98128520 98128520 Chr2(GRCh37):g.98128520G>A 2806-5 2806-5 NM_025190.3:c.2806-5C>T p.? p.? 39 38 -5 3' 88.2848 9.57438 0.983397 8.09631 91.8304 10.827 0.988016 7.97177 0.0585634 Cryptic Acceptor Weakly Activated 98128515 9.57438 0.983397 88.2848 10.827 0.988016 91.8304 rs79762068 no no 0 G 0.000000 0 transition C T C>T 0.992 0.609 255 PASS . . . . . . . . . . . . . . . . 0.53846157 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . 0.2799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.37 0.12 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79762068 rs200446433 1 1538 10 1/0 0,255,255 +. 2 98128531 C A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98128531 98128531 Chr2(GRCh37):g.98128531C>A 2806-16 2806-16 NM_025190.3:c.2806-16G>T p.? p.? 39 38 -16 3' 88.2848 9.57438 0.983397 8.09631 88.2848 10.1142 0.990715 9.02839 0.0212747 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 126772 8888 15436 5710 10662 18078 50860 14200 2938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes transversion G T G>T 0.024 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.5394737 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.5212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.33 0.08 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.888e-06 0 0 0 0 1.966e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76238768 rs201193319 1 1538 10 1/0 0,255,255 +rs3731921 2 98160442 C G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98160442 98160442 Chr2(GRCh37):g.98160442C>G 1688 1688 NM_025190.3:c.1688G>C p.Cys563Ser p.Cys563Ser 25 7 3' 91.118 9.22546 0.954817 6.03346 91.118 9.22546 0.936377 5.80964 -0.00643753 Cryptic Acceptor Strongly Activated 98160437 2.74902 0.698647 4.53271 0.934238 rs3731921 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000800 0.001000 0.002000 0.000000 0.000000 0.001482 0.001456 0.002875 0.000000 0.001187 0.000585 0.001116 0.010345 0.001064 0.010345 48 6 18 0 7 3 10 3 1 32396 4120 6260 802 5896 5124 8964 290 940 0.000741 0.000485 0.001597 0.000000 0.000678 0.000000 0.000669 0.006897 0.000000 12 1 5 0 2 0 3 1 0 24 4 8 0 3 3 4 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.004 -0.440 C Cys TGT 0.448 S Ser TCT 0.185 563 12 1 -1 -1 -2 II.75 I.42 5.V 9.II 55 32 112 C0 353.86 0.00 Tolerated 0.82 II.76 unknown 0.0 0.0 255 PASS . . . . . 0.0008 0.0008 . 0.002 . 0.001 . ANKRD36B:uc010yvc.1:exon25:c.G1688C:p.C563S ANKRD36B:NM_025190:exon25:c.G1688C:p.C563S . . 0.6875 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.024 . . 16.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C563S|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.25) . . . . . . . -0.3467 -0.210 -0.347 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.156 0.0008 . . . 0.49 0.15 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.019 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 . . . . . . . . 0.146 . HET 0.8 rs200033395 . . . . . . . . . . . . . . . . . . . . . . . . . 0.001 . . . 0.0014 0.0014 0.0029 0 0.0012 0.0090 0.0010 0.0011 0.0006 0.0020 0.0027 0 0 0 0.0147 0.0028 0 . . 0.016 . . . . . . . . 1.0E-255 0.371 0.257 . 0.108 0.033 . 0.263 . 0.069 . -1.754 . rs3731921 rs3731921 rs3731921 rs200033395 1 1538 10 1/0 0,255,255 +. 2 98429067 C T - TMEM131 30366 Transmembrane protein 131 NM_015348.1 -1 6644 5652 NP_056163.1 substitution intron GRCh37 98429067 98429067 Chr2(GRCh37):g.98429067C>T 1728+35 1728+35 NM_015348.1:c.1728+35G>A p.? p.? 16 16 615659 35 5' 79.4649 7.30369 0.975116 0 79.4649 7.30369 0.975116 0 0 New Acceptor Site 98429065 3.30888 0.002105 67.1969 transition G A G>A 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||TMEM131|mRNA|CODING|NM_015348|) . . . . . . . 0.5286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000075568 TMEM131 TMEM131 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv222n21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 105953939 A AA - C2orf49 28772 Chromosome 2 open reading frame 49 NM_024093.2 1 4371 699 NP_076998.1 Q9BVC5 duplication 5'UTR GRCh37 105953939 105953940 Chr2(GRCh37):g.105953939dup -106 -106 NM_024093.2:c.-106dup p.? p.? 1 -204 5' 75.025 5.26343 0.183935 7.83723 75.025 5.26343 0.183935 7.83723 0 A 255 Pass . . . . . . . . . . . ENSG00000135974:ENST00000437250:exon1:c.9dupA:p.R3fs . . . . 0.94827586 . . . 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . . exonic upstream UTR5 . . . . . . . . . . ENSG00000135974 C2orf49 C2orf49 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,2,2 +rs370254318 2 106810713 G C - UXS1 17729 UDP-glucuronate decarboxylase 1 NM_001253875.1 -1 2099 1278 NP_001240804.1 substitution 5'UTR GRCh37 106810713 106810713 Chr2(GRCh37):g.106810713G>C -16 -16 NM_001253875.1:c.-16C>G p.? p.? 1 609749 -110 5' 74.1084 7.21055 0.817087 9.39253 74.1084 7.21055 0.817087 9.39253 0 rs370254318 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001527 0.000000 0.000276 0.000000 0.000000 0.000000 0.003070 0.002658 0.001000 0.003070 161 0 4 0 0 0 129 25 3 105442 9528 14470 6754 3906 16354 42024 9406 3000 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000425 0.000000 2 0 0 0 0 0 0 2 0 157 0 4 0 0 0 129 21 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4612 2134 6746 6 0 6 0.00129926 0 0.000888626 0.00129926 0 0.000888626 6 transversion C G C>G 0.953 -0.440 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.5294118 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 68.0 . . . . 0.0009 0.0013 . 0.0009 0.0013 . I.08 . . . . . . . . 5.453e-04 . . . 0 0.0007 0 0 0 0.0023 0 0 0 0.0004 0 0 0 0.0014 0 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0004 . . . 0.49 0.41 182 ENSG00000115652 UXS1 UXS1 . . . . . . 47 0.000723344 64976 45 0.000750175 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370254318 . . . . . . . . . . . . . . . . . . . . . . . 0.000889 . . . . . 0 0.0011 0.0003 0 0 0.0023 0.0023 0.0005 0 0 0.0027 0 0 0 0.0038 0.0046 0.0023 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs370254318 rs370254318 1 1538 10 1/0 0,255,255 +rs553360699 2 107049494 A C - RGPD3 32416 RANBP2-like and GRIP domain containing 3 NM_001144013.1 -1 5873 5277 NP_001137485.1 substitution intron GRCh37 107049494 107049494 Chr2(GRCh37):g.107049494A>C 2386-20 2386-20 NM_001144013.1:c.2386-20T>G p.? p.? 17 16 612706 -20 3' 86.9879 8.11156 0.993323 8.86672 86.9879 7.74854 0.990754 8.95539 -0.0157802 rs553360699 yes no Frequency/1000G 2 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000098 0.000994 0.000029 0.000000 0.000000 0.000000 0.000016 0.000000 0.000156 0.000994 27 23 1 0 0 0 2 0 1 274820 23150 34304 10124 18810 30498 125918 25594 6422 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 23 1 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.008 1.255 194 PASS . . . . . 0.0023 0.0006 . . . . . . . . . 0.14444445 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . INTRON(MODIFIER||||RGPD3|mRNA|CODING|NM_001144013|) . . . . . . . -0.1043 . . . . . . . . 7.932e-06 . . . 0.0001 1.114e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.47 0.24 182 ENSG00000153165 RGPD3 RGPD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs553360699 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2720482 . . . . . . 0.0010 7.767e-05 2.986e-05 0 0 0 1.801e-05 0.0002 0 0.0010 0.0003 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs2556280 rs2556280 rs2556280 rs2556280 1 1538 10 1/0 0,234,255 +rs201309146 2 107074037 C T - RGPD3 32416 RANBP2-like and GRIP domain containing 3 NM_001144013.1 -1 5873 5277 NP_001137485.1 substitution missense exon GRCh37 107074037 107074037 Chr2(GRCh37):g.107074037C>T 238 238 NM_001144013.1:c.238G>A p.Val80Ile p.Val80Ile 3 612706 -15 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 Tetratricopeptide TPR-1 Tetratricopeptide TPR2 Tetratricopeptide repeat Tetratricopeptide repeat-containing rs201309146 yes no Frequency 1 0.000000 0 0.000244 0.000000 0.000000 0.000000 0.000155 0.000206 0.000424 0.000000 0.000984 0.000424 17 0 0 0 1 1 13 0 2 69584 13228 7120 1384 6466 4854 30686 3814 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 0 0 1 1 13 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 0.932 V Val GTT 0.178 I Ile ATT 0.356 80 13 9 Tetraodon 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 III.69 bad 3.094E-3 0.0001315 220 PASS . . . . . . . . . . . . RGPD3:uc010ywi.1:exon3:c.G238A:p.V80I RGPD3:NM_001144013:exon3:c.G238A:p.V80I . . 0.21428572 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.408 . @ . . . . . 1 0.495 . . 98.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V80I|RGPD3|mRNA|CODING|NM_001144013|NM_001144013.ex.3) . . . . . . . -0.6902 -0.776 -0.690 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.576 . . exonic exonic exonic . . 0.216 @ . . . 0.28 0.2 182 ENSG00000153165 RGPD3 RGPD3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.283 0.011 . . 37 . 0.527 . . 0.447 . . . 0.543 0.234 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.123 . . 0 0 0 0 0 0 . 0.670 . . 0.745 . . . . . . 0 0.209 . . . . . 0.335 . 0.200 . HET 0.19 rs201309146 . . . . . . . . . . . . VIII.02 . . II.36 I.45 . 0.090000 A6NKT7 . . . . . 0.381 . . . 0 0.0003 0 0 0.0002 0 0.0005 0.0009 0.0002 0 0.0002 0 0 0 0 0.0004 0.0011 . . 0.246 . -0.036 -0.036000 . . 0.090000 . . 1.0E-220 1.000 0.715 . 0.442 0.974 . 0.474 . 0.103 -0.036 0.002 . . . rs201309146 rs201309146 1 1538 10 1/0 0,237,255 +rs2228020 2 107123395 G A - CD8BP 1708 CD8b molecule pseudogene NM_001349727.1 1 4859 633 NP_001336656.1 P10966 substitution synonymous exon GRCh37 107123395 107123395 Chr2(GRCh37):g.107123395G>A 632 632 NM_001349727.1:c.632G>A p.*211= p.*211* 6 12 3' 86.4066 9.35638 0.894962 9.20481 86.4066 9.35638 0.841882 VIII.39 -0.0197699 rs2228020 no no 0 0.000000 0 transition G A G>A 0.843 1.739 * * TGA 0.489 * * TAA 0.277 211 194 PASS . . . . . . . . . . . . . . . . 0.14545454 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.8057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.41 0.45 182 ENSG00000254126 . . . dist\x3d38594\x3bdist\x3d294661 dist\x3d38594\x3bdist\x3d294661 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.43 rs2228020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs2228020 rs2228020 rs2228020 rs2228020 1 1538 10 1/0 0,255,255 +rs537109343 2 107123447 C T - CD8BP 1708 CD8b molecule pseudogene NM_001349727.1 1 4859 633 NP_001336656.1 P10966 substitution 3'UTR GRCh37 107123447 107123447 Chr2(GRCh37):g.107123447C>T *51 *51 NM_001349727.1:c.*51C>T p.? p.? 6 64 3' 86.4066 9.35638 0.894962 9.20481 86.4066 9.35638 0.894962 8.58722 0 rs537109343 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30886 8718 838 302 1618 0 14938 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transition C T C>T 0.000 -1.570 194 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.14545454 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic intergenic . . . 0.0002 . . . 0.49 0.43 182 ENSG00000254126 . . . dist\x3d38646\x3bdist\x3d294609 dist\x3d38646\x3bdist\x3d294609 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs537109343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.238e-05 0 0 0 0 6.694e-05 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs57583632 rs57583632 rs57583632 rs57583632 1 1538 10 1/0 0,255,255 +rs781675271 2 108454675 T C - RGPD4 32417 RANBP2-like and GRIP domain containing 4 NM_182588.2 1 7172 5277 NP_872394.2 substitution intron GRCh37 108454675 108454675 Chr2(GRCh37):g.108454675T>C 141-38 141-38 NM_182588.2:c.141-38T>C p.? p.? 3 2 612707 -38 3' 75.4096 4.26603 0.006319 1.18562 75.4096 4.26603 0.006319 1.30692 0 108454677 -24.7594 rs781675271 no no 0 T 0.000000 0 0.000342 0.008065 0.000000 0.000000 0.000000 0.000000 0.000923 0.000000 0.000000 0.008065 2 1 0 0 0 0 1 0 0 5856 124 1518 78 2020 708 1084 178 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.425 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||RGPD4|mRNA|CODING|NM_182588|) . . . . . . . 0.1886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.13 182 ENSG00000196862 RGPD4 RGPD4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781675271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0135 0.0002 0 0 0 0 0 0 0 0 0.0011 0 0 0 0 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62152533 rs62152533 rs62152533 rs62152533 1 1538 10 1/0 0,255,255 +. 2 108454810 G A - RGPD4 32417 RANBP2-like and GRIP domain containing 4 NM_182588.2 1 7172 5277 NP_872394.2 substitution missense exon GRCh37 108454810 108454810 Chr2(GRCh37):g.108454810G>A 238 238 NM_182588.2:c.238G>A p.Val80Ile p.Val80Ile 3 612707 -15 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 Tetratricopeptide TPR-1 Tetratricopeptide TPR2 Tetratricopeptide repeat Tetratricopeptide repeat-containing 0.000101 0.000000 0.000467 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000467 1 0 1 0 0 0 0 0 0 9872 282 2140 174 3516 950 2484 90 236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 56 Exomes transition G A G>A 1.000 1.739 V Val GTT 0.178 I Ile ATT 0.356 80 11 7 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.07 IV.32 good 8.229E-2 0.002002 245 PASS . . . . . . . . . . . . RGPD4:uc010ywk.2:exon3:c.G238A:p.V80I RGPD4:NM_182588:exon3:c.G238A:p.V80I . . 0.29166666 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.472 . @ . . . . . 1 0.408 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V80I|RGPD4|mRNA|CODING|NM_182588|NM_182588.ex.3) . . . . . . . -0.1988 -0.195 -0.199 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.576 . . exonic exonic exonic . . 0.280 @ . . . . . . ENSG00000196862 RGPD4 RGPD4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.272 0.010 . . 37 . 0.338 . . 0.114 . . . 0.543 0.241 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.123 . . 0 0 0 0 0 0 . 0.405 . . 0.366 . . . . . . 0 0.398 . . . . . 0.310 . 0.311 . HET 0.19 . . . . . . . . . . . . . VIII.77 . . II.35 II.35 . 0.140000 Q7Z3J3 . . . . . 0.440 . . II.35 0 0.0001 0.0005 0 0 0 0 0 0 . . . . . . . . . . 0.246 . 1.313 1.313000 . . 0.140000 . . 1.0E-245 1.000 0.715 . 0.562 0.994 . 0.614 . 0.298 1.313 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 2 108459658 G A - RGPD4 32417 RANBP2-like and GRIP domain containing 4 NM_182588.2 1 7172 5277 NP_872394.2 substitution missense exon GRCh37 108459658 108459658 Chr2(GRCh37):g.108459658G>A 599 599 NM_182588.2:c.599G>A p.Ser200Asn p.Ser200Asn 5 612707 -38 5' 77.4611 7.24055 0.833949 1.16114 77.4611 7.24055 0.833949 1.22646 0 Cryptic Acceptor Strongly Activated 108459664 1.75697 0.025564 6.03775 0.016899 67.1994 transition G A G>A 0.969 0.367 S Ser AGT 0.149 N Asn AAT 0.464 200 11 7 Chicken 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.24 IV.32 good 6.239E-1 0.00882 207 PASS . . . . . . . . . . . . RGPD4:uc010ywk.2:exon5:c.G599A:p.S200N RGPD4:NM_182588:exon5:c.G599A:p.S200N . . 0.17948718 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.284 . . 78.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S200N|RGPD4|mRNA|CODING|NM_182588|NM_182588.ex.5) . . . . . . . -0.5187 -0.506 -0.519 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.175 @ . . . . . . ENSG00000196862 RGPD4 RGPD4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.080 0.003 . . 37 . 0.268 . . 0.252 . . . 0.435 0.215 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.320 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.207 . . . . . 0.172 . 0.009 . HET 0.05 . . . . . . . . . . . . . V.54 . . II.65 0.752 . 0.130000 Q7Z3J3 . . . . . 0.369 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.057 -0.057000 . . 0.130000 . . 1.0E-207 1.000 0.715 . 0.888 0.998 . 0.560 . 0.297 -0.057 0.917 . . . . . 1 1538 10 1/0 0,244,255 +rs56186549 2 109237865 C T - LIMS1 6616 LIM and senescent cell antigen-like domains 1 NM_001193485.2 1 4674 1164 NP_001180414.1 substitution upstream GRCh37 109237865 109237865 Chr2(GRCh37):g.109237865C>T -33666 -33666 NM_001193485.2:c.-33666C>T p.? p.? 1 602567 -33848 5' 74.2049 7.35335 0.931542 4.56695 74.2049 7.35335 0.931542 4.56695 0 Cryptic Acceptor Strongly Activated 109237882 0.458104 0.001403 62.2254 0.854099 0.002873 62.2254 rs56186549 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001277 0.000321 0.000810 0.000000 0.000085 0.000089 0.002663 0.000344 0.001856 0.002663 225 5 20 0 1 2 181 7 9 176202 15574 24696 8436 11754 22594 67970 20328 4850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 225 5 20 0 1 2 181 7 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 1.335 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . LIMS1:uc002tej.3:exon1:c.C55T:p.R19X LIMS1:NM_001193484:exon1:c.C55T:p.R19X . . 0.32323232 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.960 . @ . . . . . 0 0.713 . . 99.0 . . . . . . . . . . 0.2608 0.053 0.261 c . . . . . 7.330e-04 . . . 0.0009 0.0008 0 0 0.0128 0.0019 0 0 0.0016 0.0005 0 0 0.0006 0.0015 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.366 0.0004 . . . 0.55 0.53 182 ENSG00000169756 LIMS1 LIMS1 . . . 1.000 0.747 . 107 0.00164676 64976 105 0.00175041 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.539 . . . HET 1 rs56186549 0.011 0.007 . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 XII.11 . ENST00000409441 5.XII III.29 . 0.890000 . . . . . . 0.317 . . III.29 0.0004 0.0012 0.0007 0 9.87e-05 0.0004 0.0026 0.0021 8.852e-05 0.0002 0.0015 0.0036 0 0 0 0.0027 0.0010 . . 0.878 . 0.700 0.700000 . . 0.890000 . . 1.0E-255 1.000 0.715 . 0.228 0.996 . 0.308 . 0.133 0.700 0.871 0.011 rs56186549 rs56186549 rs56186549 rs56186549 1 1538 10 1/0 0,247,255 +. (chr2:110559333 G/A) 2 110559333 G A Not on a known gene +. (chr2:110561152 G/A) 2 110561152 G A Not on a known gene +. (chr2:110571208 A/G) 2 110571208 A G Not on a known gene +. (chr2:110577262 A/G) 2 110577262 A G Not on a known gene +rs3960693 (chr2:110581913 G/A) 2 110581913 G A Not on a known gene +. (chr2:110585506 G/A) 2 110585506 G A Not on a known gene +. (chr2:110585652 A/G) 2 110585652 A G Not on a known gene +. (chr2:110593829 C/G) 2 110593829 C G Not on a known gene +rs2438882 (chr2:110602879 C/T) 2 110602879 C T Not on a known gene +rs1061211 (chr2:110613537 C/T) 2 110613537 C T Not on a known gene +. (chr2:110613566 G/A) 2 110613566 G A Not on a known gene +rs892759 (chr2:110663608 A/G) 2 110663608 A G Not on a known gene +. (chr2:110663611 A/G) 2 110663611 A G Not on a known gene +rs163642 2 110844047 C T - MALL 6818 Mal, T-cell differentiation protein-like NM_005434.4 -1 3061 462 NP_005425.1 Q13021 substitution intron GRCh37 110844047 110844047 Chr2(GRCh37):g.110844047C>T 400-713 400-713 NM_005434.4:c.400-713G>A p.? p.? 4 3 602022 -713 3' 79.033 8.85941 0.924326 X.16 79.033 8.85941 0.924326 X.16 0 rs163642 yes no Frequency/HapMap/1000G 3 C 0.000000 0 transition G A G>A 0.000 -0.360 222 PASS . . . . . . . . . . . . . . . . 0.2184874 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.3751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.58 0.43 182 ENSG00000264979 MIR4436B1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs116669122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs163642 rs163642 rs163642 rs116669122 1 1538 10 1/0 0,230,255 +rs163642 2 110844047 C T - MIR4436B1 41587 MicroRNA 4436b-1 NR_039941.1 -1 91 0 substitution exon GRCh37 110844047 110844047 Chr2(GRCh37):g.110844047C>T 54 54 NR_039941.1:n.54G>A 1 rs163642 yes no Frequency/HapMap/1000G 3 C 0.000000 0 transition G A G>A 0.000 -0.360 222 PASS . . . . . . . . . . . . . . . . 0.2184874 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.3751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.58 0.43 182 ENSG00000264979 MIR4436B1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs116669122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs163642 rs163642 rs163642 rs116669122 1 1538 10 1/0 0,230,255 +rs163642 2 110844047 C T - MIR4436B2 43451 MicroRNA 4436b-2 NR_049830.1 -1 91 0 substitution exon GRCh37 110844047 110844047 Chr2(GRCh37):g.110844047C>T 54 54 NR_049830.1:n.54G>A 1 rs163642 yes no Frequency/HapMap/1000G 3 C 0.000000 0 transition G A G>A 0.000 -0.360 222 PASS . . . . . . . . . . . . . . . . 0.2184874 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.3751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.58 0.43 182 ENSG00000264979 MIR4436B1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs116669122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs163642 rs163642 rs163642 rs116669122 1 1538 10 1/0 0,230,255 +. 2 110873470 G A - MALL 6818 Mal, T-cell differentiation protein-like NM_005434.4 -1 3061 462 NP_005425.1 Q13021 substitution 5'UTR GRCh37 110873470 110873470 Chr2(GRCh37):g.110873470G>A -101 -101 NM_005434.4:c.-101C>T p.? p.? 1 602022 -206 5' 87.1266 10.0978 0.983417 13.9028 87.1266 10.0978 0.983417 13.9028 0 0.000987 0.000569 0.000000 0.000000 0.000000 0.000000 0.000797 0.007353 0.001667 0.007353 22 4 0 0 0 0 9 8 1 22290 7036 514 250 1506 0 11296 1088 600 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 41 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.992 1.497 190 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . UTR_5_PRIME(MODIFIER||||MALL|mRNA|CODING|NM_005434|NM_005434.ex.1) . . . . . . . I.85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000144063 MALL MALL . uc002tfk.3:c.-101C>T NM_005434:c.-101C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.81 . . . . . . . . . 0.0006 0.0010 0 0 0 0.0074 0.0008 0.0017 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr2:111042483 G/A) 2 111042483 G A Not on a known gene +rs796267621 (chr2:111058957 A/G) 2 111058957 A G Not on a known gene +. (chr2:111212606 A/G) 2 111212606 A G Not on a known gene +. 2 111223050 T C - LIMS3 30047 LIM and senescent cell antigen-like domains 3 NM_033514.4 -1 1216 354 NP_277049.1 Q9HB10 substitution 3'UTR GRCh37 111223050 111223050 Chr2(GRCh37):g.111223050T>C *143 *143 NM_033514.4:c.*143A>G p.? p.? 3 155 3' 71.2032 6.37761 0.164195 4.27964 71.2032 6.37761 0.164195 4.27964 0 transition A G A>G 0.890 1.013 223 PASS . . . . . . . . . . . . . . . . 0.22274882 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 211.0 . . . . . . . . . . 0.5996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_intronic . . . @ . . . . . . ENSG00000256671 LIMS3 LIMS3-LOC440895 ENST00000413601:c.*143A>G uc002tfw.3:c.*143A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +. 2 111223050 T C - LIMS4 39941 LIM zinc finger domain containing 4 NM_001205288.1 -1 1216 354 NP_001192217.1 P0CW20 substitution 3'UTR GRCh37 111223050 111223050 Chr2(GRCh37):g.111223050T>C *143 *143 NM_001205288.1:c.*143A>G p.? p.? 3 155 3' 71.2032 6.37761 0.164195 4.27964 71.2032 6.37761 0.164195 4.27964 0 transition A G A>G 0.890 1.013 223 PASS . . . . . . . . . . . . . . . . 0.22274882 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 211.0 . . . . . . . . . . 0.5996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_intronic . . . @ . . . . . . ENSG00000256671 LIMS3 LIMS3-LOC440895 ENST00000413601:c.*143A>G uc002tfw.3:c.*143A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +. 2 111223053 T C - LIMS3 30047 LIM and senescent cell antigen-like domains 3 NM_033514.4 -1 1216 354 NP_277049.1 Q9HB10 substitution 3'UTR GRCh37 111223053 111223053 Chr2(GRCh37):g.111223053T>C *140 *140 NM_033514.4:c.*140A>G p.? p.? 3 152 3' 71.2032 6.37761 0.164195 4.27964 71.2032 6.37761 0.164195 4.27964 0 transition A G A>G 0.480 -0.279 239 PASS . . . . . . . . . . . . . . . . 0.2706422 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 218.0 . . . . . . . . . . -0.0007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_intronic . . . @ . . . 0.54 0.69 182 ENSG00000256671 LIMS3 LIMS3-LOC440895 ENST00000413601:c.*140A>G uc002tfw.3:c.*140A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs892759 rs892759 rs892759 rs892759 1 1538 10 1/0 0,208,255 +. 2 111223053 T C - LIMS4 39941 LIM zinc finger domain containing 4 NM_001205288.1 -1 1216 354 NP_001192217.1 P0CW20 substitution 3'UTR GRCh37 111223053 111223053 Chr2(GRCh37):g.111223053T>C *140 *140 NM_001205288.1:c.*140A>G p.? p.? 3 152 3' 71.2032 6.37761 0.164195 4.27964 71.2032 6.37761 0.164195 4.27964 0 transition A G A>G 0.480 -0.279 239 PASS . . . . . . . . . . . . . . . . 0.2706422 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 218.0 . . . . . . . . . . -0.0007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_intronic . . . @ . . . 0.54 0.69 182 ENSG00000256671 LIMS3 LIMS3-LOC440895 ENST00000413601:c.*140A>G uc002tfw.3:c.*140A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs892759 rs892759 rs892759 rs892759 1 1538 10 1/0 0,208,255 +. 2 111273095 C T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution 3'UTR GRCh37 111273095 111273095 Chr2(GRCh37):g.111273095C>T *93 *93 NM_005054.2:c.*93G>A p.? p.? 23 612708 128 3' 81.7918 5.90716 0.701387 8.50166 81.7918 5.90716 0.701387 8.50166 0 Cryptic Donor Strongly Activated 111273094 1.29679 0.002374 63.8882 2.60254 0.084369 72.849 transition G A G>A 0.000 0.205 229 PASS . . . . . . . . . . . . . . . . 0.29473683 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.4469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.65 0.78 182 ENSG00000183054 RGPD6 . ENST00000329516:c.*93G>A uc021vmh.1:c.*93G>A NM_005054:c.*93G>A\x3bNM_001123363:c.*93G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs1061214 rs1061214 rs1061214 rs1061214 1 1538 10 1/0 0,247,255 +. 2 111273095 C T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution 3'UTR GRCh37 111273095 111273095 Chr2(GRCh37):g.111273095C>T *93 *93 NM_001123363.3:c.*93G>A p.? p.? 24 612709 128 3' 81.7918 5.90716 0.701387 8.50166 81.7918 5.90716 0.701387 8.50166 0 Cryptic Donor Strongly Activated 111273094 1.29679 0.002374 63.8882 2.60254 0.084369 72.849 transition G A G>A 0.000 0.205 229 PASS . . . . . . . . . . . . . . . . 0.29473683 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.4469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.65 0.78 182 ENSG00000183054 RGPD6 . ENST00000329516:c.*93G>A uc021vmh.1:c.*93G>A NM_005054:c.*93G>A\x3bNM_001123363:c.*93G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs1061214 rs1061214 rs1061214 rs1061214 1 1538 10 1/0 0,247,255 +. 2 111273124 G A - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution 3'UTR GRCh37 111273124 111273124 Chr2(GRCh37):g.111273124G>A *64 *64 NM_005054.2:c.*64C>T p.? p.? 23 612708 99 3' 81.7918 5.90716 0.701387 8.50166 81.7918 5.90716 0.701387 8.50166 0 Cryptic Acceptor Strongly Activated 111273117 2.90711 0.004733 66.797 3.47638 0.011564 68.3077 transition C T C>T 0.677 0.367 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . 0.2747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.79 182 ENSG00000183054 RGPD6 . ENST00000329516:c.*64C>T uc021vmh.1:c.*64C>T NM_005054:c.*64C>T\x3bNM_001123363:c.*64C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1061211 rs1061211 rs1061211 rs1061211 1 1538 10 1/0 0,255,255 +. 2 111273124 G A - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution 3'UTR GRCh37 111273124 111273124 Chr2(GRCh37):g.111273124G>A *64 *64 NM_001123363.3:c.*64C>T p.? p.? 24 612709 99 3' 81.7918 5.90716 0.701387 8.50166 81.7918 5.90716 0.701387 8.50166 0 Cryptic Acceptor Strongly Activated 111273117 2.90711 0.004733 66.797 3.47638 0.011564 68.3077 transition C T C>T 0.677 0.367 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . 0.2747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.79 182 ENSG00000183054 RGPD6 . ENST00000329516:c.*64C>T uc021vmh.1:c.*64C>T NM_005054:c.*64C>T\x3bNM_001123363:c.*64C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1061211 rs1061211 rs1061211 rs1061211 1 1538 10 1/0 0,255,255 +. 2 111283782 G A - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution intron GRCh37 111283782 111283782 Chr2(GRCh37):g.111283782G>A 5061+60 5061+60 NM_005054.2:c.5061+60C>T p.? p.? 21 21 612708 60 5' 90.0021 8.68007 0.98652 2.84677 90.0021 8.68007 0.98652 II.03 0 transition C T C>T 0.000 -1.005 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.5693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.35 182 ENSG00000183054 RGPD6 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs2438882 rs2438882 rs2438882 rs2438882 1 1538 10 1/0 0,255,255 +. 2 111283782 G A - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution intron GRCh37 111283782 111283782 Chr2(GRCh37):g.111283782G>A 5061+60 5061+60 NM_001123363.3:c.5061+60C>T p.? p.? 22 22 612709 60 5' 90.0021 8.68007 0.98652 2.84677 90.0021 8.68007 0.98652 II.03 0 transition C T C>T 0.000 -1.005 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.5693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.35 182 ENSG00000183054 RGPD6 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs2438882 rs2438882 rs2438882 rs2438882 1 1538 10 1/0 0,255,255 +. 2 111292832 G C - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution missense exon GRCh37 111292832 111292832 Chr2(GRCh37):g.111292832G>C 3131 3131 NM_005054.2:c.3131C>G p.Pro1044Arg p.Pro1044Arg 20 612708 434 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 transversion C G C>G 1.000 4.079 P Pro CCT 0.283 R Arg CGT 0.082 1044 13 10 Tetraodon -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0 III.68 bad 2.363E-6 0.0001609 194 PASS . . . . . . . . . . . ENSG00000183054:ENST00000329516:exon20:c.C3131G:p.P1044R . . . . 0.14285715 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.653 . @ . . . . . 1 0.818 . . 245.0 . . . . . . . . . . 0.1794 0.151 0.179 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.279 @ . . . 0.52 0.39 182 ENSG00000183054 . . . . . 0.180 0.179 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.495 0.026 . . 37 . 0.558 . . 0.602 . . . 0.886 0.420 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.912 . . . . . 0.432 . 0.736 . LowAF 0 . . . . . . . . . . . . . X.19 . ENST00000329516 II.33 II.33 . 0.010000 . . . Name\x3dnsv510884 . . 0.751 . . II.33 . . . . . . . . . . . . . . . . . . . 0.428 . 1.309 1.309000 . . 0.010000 . . 1.0E-194 1.000 0.715 . 0.562 0.998 . 0.982 . 0.297 1.309 0.913 . rs2464067 rs2464067 rs2464067 rs2464067 1 1538 10 1/0 0,191,255 +. 2 111292832 G C - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution missense exon GRCh37 111292832 111292832 Chr2(GRCh37):g.111292832G>C 3131 3131 NM_001123363.3:c.3131C>G p.Pro1044Arg p.Pro1044Arg 21 612709 434 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 Ran binding protein 1 transversion C G C>G 1.000 4.079 P Pro CCT 0.283 R Arg CGT 0.082 1044 13 10 Tetraodon -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0 III.68 bad 2.363E-6 0.0001609 194 PASS . . . . . . . . . . . ENSG00000183054:ENST00000329516:exon20:c.C3131G:p.P1044R . . . . 0.14285715 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.653 . @ . . . . . 1 0.818 . . 245.0 . . . . . . . . . . 0.1794 0.151 0.179 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.279 @ . . . 0.52 0.39 182 ENSG00000183054 . . . . . 0.180 0.179 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.495 0.026 . . 37 . 0.558 . . 0.602 . . . 0.886 0.420 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.912 . . . . . 0.432 . 0.736 . LowAF 0 . . . . . . . . . . . . . X.19 . ENST00000329516 II.33 II.33 . 0.010000 . . . Name\x3dnsv510884 . . 0.751 . . II.33 . . . . . . . . . . . . . . . . . . . 0.428 . 1.309 1.309000 . . 0.010000 . . 1.0E-194 1.000 0.715 . 0.562 0.998 . 0.982 . 0.297 1.309 0.913 . rs2464067 rs2464067 rs2464067 rs2464067 1 1538 10 1/0 0,191,255 +. 2 111293125 G T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution missense exon GRCh37 111293125 111293125 Chr2(GRCh37):g.111293125G>T 2838 2838 NM_005054.2:c.2838C>A p.Phe946Leu p.Phe946Leu 20 612708 141 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 COSM6390916 Thyroid 0.001339 747 transversion C A C>A 0.024 0.125 F Phe TTC 0.546 L Leu TTA 0.073 946 13 6 Rabbit 1 0 0 0 0 5.II 4.IX 132 111 22 C0 353.86 0.00 Tolerated 0.74 III.71 good 6.709E-1 0.5891 199 PASS . . . . . . . . . . . ENSG00000183054:ENST00000329516:exon20:c.C2838A:p.F946L . . . . 0.1570248 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.058 . . 121.0 . . . . . . . . . . -0.5014 -0.611 -0.501 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.209 @ . . . 0.52 0.39 182 ENSG00000183054 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.063 0.003 . . 37 . 0.213 . . 0.260 . . . 0.192 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.236 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.072 . . . . . 0.103 . 0.159 . HET 0.65 . . . . . . . . . . . . . IV.88 . ENST00000329516 II.33 I.33 . 0.440000 . . . Name\x3dnsv510884 . . 0.142 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.218 0.218000 . . 0.440000 . . 1.0E-199 0.609 0.276 . 0.233 0.563 . 0.279 . 0.106 0.218 -0.014 . rs17041516 rs17041516 rs2056812 rs17041516 1 1538 10 1/0 0,223,255 +. 2 111293125 G T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution missense exon GRCh37 111293125 111293125 Chr2(GRCh37):g.111293125G>T 2838 2838 NM_001123363.3:c.2838C>A p.Phe946Leu p.Phe946Leu 21 612709 141 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 COSM6390916 Thyroid 0.001339 747 transversion C A C>A 0.024 0.125 F Phe TTC 0.546 L Leu TTA 0.073 946 13 6 Rabbit 1 0 0 0 0 5.II 4.IX 132 111 22 C0 353.86 0.00 Tolerated 0.74 III.71 good 6.709E-1 0.5891 199 PASS . . . . . . . . . . . ENSG00000183054:ENST00000329516:exon20:c.C2838A:p.F946L . . . . 0.1570248 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.058 . . 121.0 . . . . . . . . . . -0.5014 -0.611 -0.501 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.209 @ . . . 0.52 0.39 182 ENSG00000183054 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.063 0.003 . . 37 . 0.213 . . 0.260 . . . 0.192 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.236 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.072 . . . . . 0.103 . 0.159 . HET 0.65 . . . . . . . . . . . . . IV.88 . ENST00000329516 II.33 I.33 . 0.440000 . . . Name\x3dnsv510884 . . 0.142 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.218 0.218000 . . 0.440000 . . 1.0E-199 0.609 0.276 . 0.233 0.563 . 0.279 . 0.106 0.218 -0.014 . rs17041516 rs17041516 rs2056812 rs17041516 1 1538 10 1/0 0,223,255 +rs199635657 2 111304748 C T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution missense exon GRCh37 111304748 111304748 Chr2(GRCh37):g.111304748C>T 1391 1391 NM_005054.2:c.1391G>A p.Arg464His p.Arg464His 10 612708 -68 5' 79.0307 6.94989 0.974143 0 79.0307 6.94989 0.974143 0 0 rs199635657 no no 0 C 0.000000 0 transition G A G>A 0.976 -0.037 R Arg CGT 0.082 H His CAT 0.413 464 13 2 Frog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.35 III.71 good 9.359E-1 0.03926 255 PASS . . . . . . . . . . . . . . . . 0.37012988 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.012 . . 154.0 . . . . . . . . . . -1.1763 -1.123 -1.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.826 . . exonic exonic exonic . . 0.196 @ . . . 0.47 0.32 182 ENSG00000183054 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.519 0.029 . . 37 . 0.540 . . 0.421 . . . 0.006 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.051 . . . . . 0.187 . 0.047 . HET 1 rs199635657 . . . . . . . . . . . . 6.0151 . . II.35 1.XII . 0.520000 . . . . . . 0.224 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.202 -0.202000 . . 0.520000 . . 1.0E-255 1.000 0.715 . 0.446 0.998 . 0.420 . 0.106 -0.202 0.061 . rs3960693 rs3960693 rs3960693 rs199635657 1 1538 10 1/0 0,231,255 +rs199635657 2 111304748 C T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution missense exon GRCh37 111304748 111304748 Chr2(GRCh37):g.111304748C>T 1391 1391 NM_001123363.3:c.1391G>A p.Arg464His p.Arg464His 11 612709 -68 5' 79.0307 6.94989 0.974143 0 79.0307 6.94989 0.974143 0 0 rs199635657 no no 0 C 0.000000 0 transition G A G>A 0.976 -0.037 R Arg CGT 0.082 H His CAT 0.413 464 13 2 Frog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.35 III.71 good 9.359E-1 0.03926 255 PASS . . . . . . . . . . . . . . . . 0.37012988 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.012 . . 154.0 . . . . . . . . . . -1.1763 -1.123 -1.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.826 . . exonic exonic exonic . . 0.196 @ . . . 0.47 0.32 182 ENSG00000183054 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.519 0.029 . . 37 . 0.540 . . 0.421 . . . 0.006 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.051 . . . . . 0.187 . 0.047 . HET 1 rs199635657 . . . . . . . . . . . . 6.0151 . . II.35 1.XII . 0.520000 . . . . . . 0.224 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.202 -0.202000 . . 0.520000 . . 1.0E-255 1.000 0.715 . 0.446 0.998 . 0.420 . 0.106 -0.202 0.061 . rs3960693 rs3960693 rs3960693 rs199635657 1 1538 10 1/0 0,231,255 +. 2 111309399 T C - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution intron GRCh37 111309399 111309399 Chr2(GRCh37):g.111309399T>C 979-11 979-11 NM_005054.2:c.979-11A>G p.? p.? 8 7 612708 -11 3' 70.8633 4.324 0.040142 1.13697 71.135 4.59776 0.073222 0 0.297073 Cryptic Acceptor Weakly Activated 111309388 4.324 0.040142 70.8633 4.59776 0.073222 71.135 transition A G A>G 0.953 0.205 227 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.4457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 111309399 T C - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution intron GRCh37 111309399 111309399 Chr2(GRCh37):g.111309399T>C 979-11 979-11 NM_001123363.3:c.979-11A>G p.? p.? 9 8 612709 -11 3' 70.8633 4.324 0.040142 1.13697 71.135 4.59776 0.073222 0 0.297073 Cryptic Acceptor Weakly Activated 111309388 4.324 0.040142 70.8633 4.59776 0.073222 71.135 transition A G A>G 0.953 0.205 227 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.4457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 111315453 T C - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution synonymous exon GRCh37 111315453 111315453 Chr2(GRCh37):g.111315453T>C 954 954 NM_005054.2:c.954A>G p.Ala318= p.Ala318Ala 7 612708 -25 5' 100 X.83 0.998987 7.75683 100 X.83 0.998987 7.73076 0 transition A G A>G 0.512 -1.732 A Ala GCA 0.226 A Ala GCG 0.107 318 229 PASS . . . . . . . . . . . . . . . . 0.24050634 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.72 182 ENSG00000183054 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs2699519 rs2699519 rs2699519 rs2699519 1 1538 10 1/0 0,249,255 +. 2 111315453 T C - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution synonymous exon GRCh37 111315453 111315453 Chr2(GRCh37):g.111315453T>C 954 954 NM_001123363.3:c.954A>G p.Ala318= p.Ala318Ala 8 612709 -25 5' 100 X.83 0.998987 7.75683 100 X.83 0.998987 7.73076 0 transition A G A>G 0.512 -1.732 A Ala GCA 0.226 A Ala GCG 0.107 318 229 PASS . . . . . . . . . . . . . . . . 0.24050634 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.72 182 ENSG00000183054 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs2699519 rs2699519 rs2699519 rs2699519 1 1538 10 1/0 0,249,255 +. 2 111325509 C T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution intron GRCh37 111325509 111325509 Chr2(GRCh37):g.111325509C>T 252+32 252+32 NM_005054.2:c.252+32G>A p.? p.? 3 3 612708 32 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 transition G A G>A 0.008 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.41269842 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.3494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.26 182 ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2458991 rs2458991 rs2458991 rs2458991 1 1538 10 1/0 0,255,255 +. 2 111325509 C T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution intron GRCh37 111325509 111325509 Chr2(GRCh37):g.111325509C>T 252+32 252+32 NM_001123363.3:c.252+32G>A p.? p.? 4 4 612709 32 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 transition G A G>A 0.008 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.41269842 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.3494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.26 182 ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2458991 rs2458991 rs2458991 rs2458991 1 1538 10 1/0 0,255,255 +. 2 111327328 C T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution intron GRCh37 111327328 111327328 Chr2(GRCh37):g.111327328C>T 73-27 73-27 NM_005054.2:c.73-27G>A p.? p.? 2 1 612708 -27 3' 88.3771 6.74776 0.953191 3.82457 88.3771 6.74776 0.953191 3.95978 0 transition G A G>A 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.25 182 ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2438854 rs2438854 rs2438854 rs2438854 1 1538 10 1/0 0,255,255 +. 2 111327328 C T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution intron GRCh37 111327328 111327328 Chr2(GRCh37):g.111327328C>T 73-27 73-27 NM_001123363.3:c.73-27G>A p.? p.? 3 2 612709 -27 3' 88.3771 6.74776 0.953191 3.82457 88.3771 6.74776 0.953191 3.95978 0 transition G A G>A 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.25 182 ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2438854 rs2438854 rs2438854 rs2438854 1 1538 10 1/0 0,255,255 +rs62164158 2 112541814 T A - ANAPC1 19988 Anaphase promoting complex subunit 1 NM_022662.3 -1 7736 5835 NP_073153.1 Q9H1A4 substitution intron GRCh37 112541814 112541814 Chr2(GRCh37):g.112541814T>A 4995+86 4995+86 NM_022662.3:c.4995+86A>T p.? p.? 41 41 608473 86 5' 94.2214 9.88355 0.992321 5.64701 94.2214 9.88355 0.992321 5.64701 0 rs62164158 no no 0 A 0.000000 0 0.000582 0.000960 0.000000 0.000000 0.000000 0.000000 0.000367 0.001235 0.000000 0.001235 16 7 0 0 0 0 5 4 0 27480 7292 776 284 1372 0 13608 3238 910 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 7 0 0 0 0 5 4 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion A T A>T 0.000 0.609 242 PASS . . . . . . . . . . . . . . . . 0.28333333 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||ANAPC1|mRNA|CODING|NM_022662|) . . . . . . . -0.1468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.2 182 ENSG00000153107 ANAPC1 ANAPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62164158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.V . . . . . . . . . 0.0010 0.0006 0 0 0 0.0012 0.0004 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs62164158 rs62164158 rs62164158 rs62164158 1 1538 10 1/0 0,255,255 +rs147423265 2 112940369 C T - FBLN7 26740 Fibulin 7 NM_153214.2 1 2299 1320 NP_694946.2 Q53RD9 substitution synonymous exon GRCh37 112940369 112940369 Chr2(GRCh37):g.112940369C>T 672 672 NM_153214.2:c.672C>T p.Asp224= p.Asp224Asp 6 611551 2 3' 87.1895 7.23513 0.621418 6.10241 87.1895 8.40995 0.818774 7.09664 0.159989 Cryptic Acceptor Strongly Activated 112940368 7.23513 0.621418 87.1895 8.40995 0.818774 87.1895 EGF-like calcium-binding rs147423265 yes no Frequency 1 T 0.000000 0 0.001549 0.000043 0.000261 0.000000 0.000000 0.000392 0.002865 0.001133 0.001321 0.002865 408 1 8 0 0 11 351 29 8 263390 23160 30628 9788 17592 28052 122516 25600 6054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 408 1 8 0 0 11 351 29 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8578 4405 12983 22 1 23 0.00255814 0.000226963 0.00176841 0.00255814 0.000226963 0.00176841 52 COSM4084205 Stomach 0.001161 861 transition C T C>T 1.000 0.690 D Asp GAC 0.539 D Asp GAT 0.461 224 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . . 0.0002 0.0018 0.0026 0.0002 0.0018 0.0026 . I.92 . . . . . . . . 1.753e-03 . . . 0 0.0012 0.0004 0 0.0018 0.0022 0.0058 0.0003 0 0.0017 0.0004 0 0.0020 0.0028 0.0015 0.0003 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.54 182 ENSG00000144152 FBLN7 FBLN7 . . . . . . 103 0.0015852 64976 103 0.00171707 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147423265 . . . . . . . . . . . . . . . . . . . . 0 0.004 . 0.001768 . . . . IV.51 0 0.0015 0.0003 0 0 0.0012 0.0028 0.0014 0.0004 0.0001 0.0017 0 0 0 0.0006 0.0033 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs147423265 rs147423265 1 1538 10 1/0 0,241,255 +rs538189245 2 113147391 G C - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution missense exon GRCh37 113147391 113147391 Chr2(GRCh37):g.113147391G>C 3131 3131 NM_001164463.1:c.3131C>G p.Pro1044Arg p.Pro1044Arg 20 602752 434 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 Ran binding protein 1 rs538189245 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000800 0.000000 0.003000 0.001000 0.000000 0.000514 0.000090 0.000780 0.000000 0.003146 0.000000 0.000070 0.000000 0.000000 0.003146 38 1 8 0 27 0 2 0 0 73922 11068 10262 1292 8582 6004 28596 6004 2114 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000070 0.000000 0.000000 1 0 0 0 0 0 1 0 0 36 1 8 0 27 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 1.000 4.079 P Pro CCT 0.283 R Arg CGT 0.082 1044 13 10 Tetraodon -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0 III.68 bad 2.363E-6 0.0001609 215 PASS . . . . . 0.0008 0.001 . 0.003 0.001 . . . . . . 0.19642857 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.528 . @ . . . . . 1 0.828 . . 224.0 . . . . . . . . . . 0.6507 0.466 0.651 c . . . . . 8.870e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.279 0.0010 . . . 0.48 0.42 182 ENSG00000169629 . . . . . 0.180 0.179 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.300 0.012 . . 37 . 0.723 . . 0.779 . . . 0.886 0.463 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.912 . . . . . 0.432 . 0.452 . HET 0 rs538189245 . . . . . . . . . . . . X.19 . . II.33 II.33 . 0.010000 O14715 . . . . . 0.761 . . II.33 0 0.0007 0.0007 0 0.0033 0 0.0001 0 0 0.0002 0.0002 0.0015 0 0.0019 0 0 0 . . 0.428 . 1.309 1.309000 . . 0.010000 . . 1.0E-215 1.000 0.715 . 0.653 0.998 . 0.982 . 0.296 1.309 0.913 . rs2464067 rs2464067 rs2464067 rs2464067 1 1538 10 1/0 0,201,255 +. 2 113155572 T C - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution missense exon GRCh37 113155572 113155572 Chr2(GRCh37):g.113155572T>C 2393 2393 NM_001164463.1:c.2393A>G p.Glu798Gly p.Glu798Gly 17 602752 11 3' 93.4551 9.58411 0.993363 9.61009 93.4551 9.58411 0.992455 9.54837 -0.000304689 transition A G A>G 1.000 1.416 E Glu GAA 0.417 G Gly GGA 0.246 798 13 2 Chimp -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Deleterious 0.02 III.71 bad 3.227E-4 0.0005516 188 PASS . . . . . . . . . . . . . . . . 0.13 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.336 . @ . . . . . 1 0.462 . . 100.0 . . . . . . . . . . -0.6507 -0.604 -0.651 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.227 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000169629 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.135 0.005 . . 37 . 0.123 . . 0.309 . . . 0.065 0.186 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.545 . . 0 0 0 0 0 0 . 0.260 . . 0.291 . . . . . . 0 0.721 . . . . . 0.156 . 0.152 . LowAF 0.02 . . . . . . . . . . . . . V.04 . . II.33 1.XI . 0.090000 . . . . . . 0.376 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.159 0.159000 . . 0.090000 . . 1.0E-188 1.000 0.715 . 0.494 0.980 . 0.510 . 0.300 0.159 0.987 . . . . . 1 1538 10 1/0 0,229,255 +. 2 113155718 C T - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution synonymous exon GRCh37 113155718 113155718 Chr2(GRCh37):g.113155718C>T 2340 2340 NM_001164463.1:c.2340G>A p.Pro780= p.Pro780Pro 16 602752 -43 5' 81.7632 8.138 0.974919 1.38049 81.7632 8.138 0.974919 0.7806 0 transition G A G>A 0.976 -0.924 P Pro CCG 0.115 P Pro CCA 0.274 780 217 PASS . . . . . . . . . . . . . . . . 0.20560747 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . 0.2292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.62 182 ENSG00000169629 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs3960689 rs3960689 rs3960689 rs3960689 1 1538 10 1/0 0,233,255 +. 2 113159311 C T - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution missense exon GRCh37 113159311 113159311 Chr2(GRCh37):g.113159311C>T 1391 1391 NM_001164463.1:c.1391G>A p.Arg464His p.Arg464His 10 602752 -68 5' 79.0307 6.94989 0.974143 0 79.0307 6.94989 0.974143 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.992 0.125 R Arg CGT 0.082 H His CAT 0.413 464 13 2 Frog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.35 III.71 good 9.36E-1 0.03925 232 PASS . . . . . . . . . . . . . . . . 0.24806201 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.272 . @ . . . . . 1 0.003 . . 129.0 . . . . . . . . . . -1.1910 -1.039 -1.191 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.826 . . exonic exonic exonic . . 0.279 @ . . . 0.57 0.59 182 ENSG00000169629 RGPD8 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.470 0.024 . . 37 . 0.545 . . 0.488 . . . 0.006 0.186 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.049 . . . . . 0.115 . 0.067 . HET 1 . . . . . . . . . . . . . IV.14 . . II.33 II.33 . 0.510000 . . . Name\x3dnsv874871 . . 0.225 . . II.33 . . . . . . . . . . . . . . . . . . . 0.428 . 0.150 0.150000 . . 0.510000 . . 1.0E-232 1.000 0.715 . 0.454 0.998 . 0.422 . 0.117 0.150 0.061 . rs3960693 rs3960693 rs3960693 rs3960693 1 1538 10 1/0 0,229,255 +. 2 113163972 T C - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution intron GRCh37 113163972 113163972 Chr2(GRCh37):g.113163972T>C 979-11 979-11 NM_001164463.1:c.979-11A>G p.? p.? 8 7 602752 -11 3' 70.8633 4.324 0.040142 1.13697 71.135 4.59776 0.073222 0 0.297073 Cryptic Acceptor Weakly Activated 113163961 4.324 0.040142 70.8633 4.59776 0.073222 71.135 transition A G A>G 0.953 0.205 222 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . 0.4470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000169629 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.026 Name\x3dnsv874871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2673119 2 113180114 C T - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution intron GRCh37 113180114 113180114 Chr2(GRCh37):g.113180114C>T 252+11 252+11 NM_001164463.1:c.252+11G>A p.? p.? 3 3 602752 11 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 rs2673119 no no 0 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000108 0.000000 0.000051 0.000000 0.000000 0.000108 3 0 0 0 1 0 2 0 0 92110 14308 11778 1686 9282 6376 38978 7150 2552 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.167 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . 0.0877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.32 182 ENSG00000169629 RGPD8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv874871 . . . . . . 0 4.784e-05 0 0 0.0001 0 7.921e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs2673119 rs2673119 rs2673119 rs2673119 1 1538 10 1/0 0,228,255 +rs572274510 2 113481425 C G - NT5DC4 27678 5'-nucleotidase domain containing 4 NM_001350494.1 1 1767 1287 NP_001337423.1 Q86YG4 substitution intron GRCh37 113481425 113481425 Chr2(GRCh37):g.113481425C>G 678+46 678+46 NM_001350494.1:c.678+46C>G p.? p.? 9 9 46 5' 82.716 7.79763 0.971423 VI.91 82.716 7.79763 0.971423 6.36125 0 rs572274510 yes no Frequency/1000G 2 C 0.001597 G 8 0.001597 0.000000 0.002000 0.000000 0.004000 0.002900 0.005128 0.001185 0.003052 0.012252 0.000000 0.000716 0.008327 0.004830 0.007021 0.012252 880 18 75 100 0 16 543 95 33 171592 15188 24578 8162 11736 22350 65210 19668 4700 0.000082 0.000000 0.000081 0.000245 0.000000 0.000000 0.000153 0.000000 0.000000 7 0 1 1 0 0 5 0 0 866 18 73 98 0 16 533 95 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.360 255 PASS . . . . . . 0.0016 0.0029 . 0.004 0.002 . . . . . 0.5590551 . . @ 71 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 127.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.8089 . . . . . . . . 3.162e-03 . . . 0 0.0041 0 0 0 0.0115 0 0.0003 0 0.0034 0 0 0.0056 0.0114 0 0.0003 . . . . . . intronic intronic intergenic . . . 0.0016 . . . . . . ENSG00000144130 NT5DC4 . . . dist\x3d60025\x3bdist\x3d12502 . . . 355 0.00546356 64976 347 0.00578468 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs572274510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0049 0.0030 0.0118 0 0.0051 0.0079 0.0062 0.0007 0.0015 0.0063 0.0048 0.0232 0 0.0037 0.0098 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,247 +rs1756507 2 114205192 C T - CBWD2 17907 COBW domain containing 2 NM_172003.3 1 1827 1188 NP_742000.1 Q8IUF1 substitution intron GRCh37 114205192 114205192 Chr2(GRCh37):g.114205192C>T 430+2560 430+2560 NM_172003.3:c.430+2560C>T p.? p.? 4 4 611079 2560 5' 94.6711 X.63 0.998014 1.29144 94.6711 X.63 0.998014 1.29144 0 rs1756507 no no 0 C 0.000000 0 transition C T C>T 0.134 0.205 255 PASS . . . . . . . . . . . ENSG00000238091:ENST00000440617:exon1:c.G238A:p.G80S . . . . 0.35714287 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||CBWD2|mRNA|CODING|NM_172003|) . . . . . . . -0.8239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.35 0.15 182 ENSG00000238091 CBWD2 CBWD2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs1756507 . . . . . . . . . . . . . . ENST00000440617 0.109 0.109 . 0.560000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.181 0.181000 . . 0.560000 . . 1.0E-255 . . . . . . . . . 0.181 . . rs1756507 rs1756507 rs77379650 rs77379650 1 1538 10 1/0 0,255,255 +rs62158375 2 114239828 C T - CBWD2 17907 COBW domain containing 2 NM_172003.3 1 1827 1188 NP_742000.1 Q8IUF1 substitution intron GRCh37 114239828 114239828 Chr2(GRCh37):g.114239828C>T 816+23 816+23 NM_172003.3:c.816+23C>T p.? p.? 11 11 611079 23 5' 82.8297 9.65432 0.964438 2.83202 82.8297 9.65432 0.964438 2.63964 0 rs62158375 no no 0 C 0.000000 0 transition C T C>T 0.008 0.528 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||CBWD2|mRNA|CODING|NM_172003|) . . . . . . . -0.2715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.12 182 ENSG00000136682 CBWD2 CBWD2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62158375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . rs1757270 rs1757270 rs1757270 rs1757270 1 1538 10 1/0 0,255,255 +rs201655302 2 114257162 A C - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257162 114257162 Chr2(GRCh37):g.114257162A>C 329 329 NM_012184.4:c.329A>C p.Tyr110Ser p.Tyr110Ser 1 611084 Transcription factor, fork head rs201655302 no no 0 A 0.000000 0 0.000099 0.000087 0.000060 0.000199 0.000000 0.000000 0.000169 0.000000 0.000000 0.000199 27 2 2 2 0 0 21 0 0 271412 23030 33484 10068 18036 30662 124234 25560 6338 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 2 2 2 0 0 21 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 1.000 3.514 Y Tyr TAC 0.562 S Ser TCC 0.220 110 7 7 Platypus -2 -2 -3 0.2 I.42 6.II 9.II 136 32 144 C65 0.00 143.11 Deleterious 0 III.65 bad 3.518E-4 5.317E-5 177 PASS . . . . . . . . . . . ENSG00000184492:ENST00000306507:exon1:c.A329C:p.Y110S FOXD4L1:uc002tjw.4:exon1:c.A329C:p.Y110S FOXD4L1:NM_012184:exon1:c.A329C:p.Y110S . . 0.10752688 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.576 . @ . . . . . 1 0.390 . . 93.0 . . . . . . . . . . 0.0770 0.047 0.077 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.959 . . exonic exonic exonic . . 0.322 @ . . . 0.27 0.36 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.028 0.138 . . . . . . . Uncertain_significance . 0 . 0.312 . . . . D 0.712 0.071 . . 37 . 0.959 . . 0.952 . . . 0.952 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.974 . . 0 0 0 0 0 0 . 0.270 . . 0.306 . . . . . . 1 0.506 . . . . . 0.358 . 0.635 . LowAF 0.04 rs201655302 . . . . . . . . . . . . 9.1315 . ENST00000306507 II.85 II.85 . 0.030000 Q9NU39 . . . . . 0.654 . . II.85 6.697e-05 2.057e-05 3.057e-05 0.0001 0 0 1.808e-05 0 0 0.0001 0.0008 0.0013 0.0035 0 0 0.0014 0 . . 0.340 . 1.309 1.309000 . . 0.030000 . . 1.0E-177 1.000 0.715 . 0.398 0.985 . 0.668 . 0.293 1.309 0.960 . . . rs201655302 rs201655302 1 1538 10 1/0 0,230,255 +rs199845792 2 114257296 A G - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257296 114257296 Chr2(GRCh37):g.114257296A>G 463 463 NM_012184.4:c.463A>G p.Ile155Val p.Ile155Val 1 611084 Transcription factor, fork head rs199845792 yes no Frequency 1 0.000000 0 0.000536 0.000271 0.000555 0.000102 0.000064 0.000172 0.000364 0.002636 0.000164 0.002636 136 6 16 1 1 5 43 63 1 253628 22112 28834 9796 15724 29068 118108 23898 6088 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 134 6 16 1 1 5 41 63 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM224838|COSM224838|COSM224838 Thyroid|Skin|Prostate 0.001339|0.001623|0.000567 747|1232|1764 transition A G A>G 1.000 3.434 I Ile ATC 0.481 V Val GTC 0.240 155 7 6 Platypus 3 3 4 0 0 5.II 5.IX 111 84 29 C25 0.00 28.68 Deleterious 0 III.62 bad 7.405E-3 0.0003309 198 PASS . . . . . . . . . . . ENSG00000184492:ENST00000306507:exon1:c.A463G:p.I155V FOXD4L1:uc002tjw.4:exon1:c.A463G:p.I155V FOXD4L1:NM_012184:exon1:c.A463G:p.I155V . . 0.15555556 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.608 . @ . . . . . 1 0.946 . . 90.0 . . . . . . . . . . 0.3822 0.270 0.382 c . . . . . 7.266e-04 . . . 0.0015 0.0008 0.0007 0.0005 0.0003 0.0011 0 0.0002 0.0008 0.0003 0.0005 0.0002 0.0002 0.0002 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.964 . . exonic exonic exonic . . 0.298 @ . . . 0.28 0.21 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.014 0.126 . . . . . . . Uncertain_significance . 0 . 0.317 . . . . D 0.662 0.055 . . 37 . 0.968 . . 0.959 . . . 0.555 0.548 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 0 0 . 0.670 . . 0.832 . . . . . . 1 0.614 . . . . . 0.330 . 0.510 . HET 0.01 rs199845792 . . . . . . . . . . . . VIII.31 . ENST00000306507 II.57 II.57 . 0.020000 Q9NU39 . . . . . 0.649 . . II.57 0.0001 0.0005 0.0005 0.0001 6.882e-05 0.0027 0.0003 0.0002 0.0002 0.0005 0.0009 0.0015 0 0 0.0022 0.0009 0 . . 0.340 . 1.190 1.190000 . . 0.020000 . . 1.0E-198 1.000 0.715 . 0.750 1.000 . 0.607 . 0.293 1.190 0.960 . . . rs199845792 rs199845792 1 1538 10 1/0 0,236,255 +rs2482275 2 114257354 A G - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257354 114257354 Chr2(GRCh37):g.114257354A>G 521 521 NM_012184.4:c.521A>G p.His174Arg p.His174Arg 1 611084 Transcription factor, fork head rs2482275 yes no Frequency/1000G 2 0.000000 0 0.058706 0.009100 0.026600 0.177600 0.013900 0.090800 0.006163 0.001897 0.019378 0.001020 0.037055 0.005915 0.001860 0.000166 0.004158 0.037055 1550 41 552 10 527 171 220 4 25 251502 21612 28486 9808 14222 28910 118302 24150 6012 0.005662 0.001388 0.018184 0.000816 0.035016 0.005534 0.001555 0.000083 0.003992 712 15 259 4 249 80 92 1 12 126 11 34 2 29 11 36 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM404602 Lung 0.000419 2389 transition A G A>G 1.000 3.434 H His CAC 0.587 R Arg CGC 0.190 174 7 7 Platypus 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C25 0.00 28.82 Deleterious 0 III.65 bad 1.627E-5 9.497E-5 205 PASS . . . . . 0.0091 0.059 0.091 0.18 0.014 0.027 ENSG00000184492:ENST00000306507:exon1:c.A521G:p.H174R FOXD4L1:uc002tjw.4:exon1:c.A521G:p.H174R FOXD4L1:NM_012184:exon1:c.A521G:p.H174R . . 0.17460318 . . @ 11 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.214 . . 63.0 . . . . . . . . . . -0.6428 -0.443 -0.643 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.950 . . exonic exonic exonic . . 0.298 0.0587 . . . 0.31 0.35 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.014 0.126 . . . . . . . Benign . 0 . 0.356 . . . . . . . . . 37 . 0.771 . . 0.704 . . . 0.005 0.410 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.644 . . 0 0 0 0 0 0 . 0.139 . . 0.149 . . . . . . 1 0.182 . . . . . 0.330 . 0.376 . HET 0.1 rs202243377 . . . . . . . . . . . . VIII.31 . ENST00000306507 II.57 II.57 . 0.360000 Q9NU39 . . . . . 0.553 . . II.57 0.0025 0.0068 0.0198 0.0010 0.0392 0.0001 0.0020 0.0046 0.0059 0.0008 0.0010 0.0016 0 0.0045 0.0003 0.0010 0.0012 . . 0.340 . 1.190 1.190000 . . 0.360000 . . 1.0E-205 0.560 0.272 . 0.587 1.000 . 0.603 . 0.293 1.190 0.960 . . . rs202243377 rs202243377 1 1538 10 1.I 0,0,0 +rs2757971 2 114257369 C A - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257369 114257369 Chr2(GRCh37):g.114257369C>A 536 536 NM_012184.4:c.536C>A p.Thr179Asn p.Thr179Asn 1 611084 Transcription factor, fork head rs2757971 no no 0 0.000000 0 0.001188 0.000413 0.003507 0.000510 0.006289 0.002189 0.000287 0.000000 0.000331 0.006289 298 9 98 5 87 63 34 0 2 250862 21800 27942 9808 13834 28784 118356 24304 6034 0.001068 0.000183 0.003221 0.000408 0.005927 0.002154 0.000203 0.000000 0.000331 134 2 45 2 41 31 12 0 1 30 5 8 1 5 1 10 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3682295 Haematopoietic and lymphoid tissue 0.000850 3530 transversion C A C>A 1.000 0.609 T Thr ACC 0.361 N Asn AAC 0.536 179 7 1 0 0 0 0.71 I.33 8.VI 11.VI 61 56 65 C0 64.77 0.00 Tolerated 1 III.65 good 1,00E+00 0.0002187 180 PASS . . . . . . . . . . . ENSG00000184492:ENST00000306507:exon1:c.C536A:p.T179N FOXD4L1:uc002tjw.4:exon1:c.C536A:p.T179N FOXD4L1:NM_012184:exon1:c.C536A:p.T179N . . 0.114754096 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.217 . . 61.0 . . . . . . . . . . -1.4766 -1.205 -1.477 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.951 . . exonic exonic exonic . . 0.209 @ . . . 0.34 0.34 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.365 . . . . D 0.600 0.041 . . 37 . 0.608 . . 0.697 . . . 0.001 0.221 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 1 0.010 . . . . . 0.091 . 0.195 . LowAF 1 rs2757971 . . . . . . . . . . . . 4.0146 . ENST00000306507 II.57 I.34 . 1.000000 Q9NU39 . . . . . 0.121 . . . 0.0004 0.0013 0.0036 0.0005 0.0066 0 0.0003 0.0004 0.0022 0.0005 0.0003 0 0 0.0020 0 0.0002 0 . . 0.340 . -0.110 -0.110000 . . 1.000000 . . 1.0E-180 1.000 0.715 . 0.587 0.999 . 0.346 . 0.106 -0.110 0.051 . rs2757971 rs2757971 rs2757971 rs2757971 1 1538 10 1.I 0,0,0 +rs200366671 2 114257555 T C - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257555 114257555 Chr2(GRCh37):g.114257555T>C 722 722 NM_012184.4:c.722T>C p.Leu241Pro p.Leu241Pro 1 611084 rs200366671 yes no Frequency 1 0.000000 0 0.008976 0.007068 0.023860 0.002069 0.044060 0.008010 0.003093 0.001931 0.009411 0.044060 2099 142 669 20 606 230 349 29 54 233858 20090 28038 9668 13754 28714 112834 15022 5738 0.008065 0.002987 0.023539 0.001862 0.043187 0.007871 0.002357 0.001065 0.008017 943 30 330 9 297 113 133 8 23 213 82 9 2 12 4 83 13 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.992 0.286 L Leu CTG 0.404 P Pro CCG 0.115 241 7 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 240.02 0.00 Tolerated 1 III.75 good 9.999E-1 0.05212 255 PASS . . . . . . . . . . . ENSG00000184492:ENST00000306507:exon1:c.T722C:p.L241P FOXD4L1:uc002tjw.4:exon1:c.T722C:p.L241P FOXD4L1:NM_012184:exon1:c.T722C:p.L241P . . 0.375 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.129 . @ . . . . . 1 0.045 . . 24.0 . . . . . . . . . . -1.4523 -1.377 -1.452 c . . . . . 1.436e-03 . . . 0.0024 0.0005 0.0003 0.0021 0 8.918e-05 0 0.0002 0.0026 0.0004 0.0003 0.0021 0 2.086e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.944 . . exonic exonic exonic . . 0.298 @ . . . 0.28 0.3 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.417 0.019 . . 37 . 0.788 . . 0.722 . . . 0.004 0.329 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.168 . 0.135 . HET 0.11 rs200366671 . . . . . . . . . . . . V.31 . ENST00000306507 II.57 II.57 . 0.320000 Q9NU39 . . . . . 0.015 . . II.57 0.0048 0.0091 0.0243 0.0020 0.0459 0.0013 0.0027 0.0092 0.0080 0.0114 0.0081 0.0033 0.0039 0.0131 0.0047 0.0068 0.0109 . . 0.340 . 0.428 0.428000 . . 0.320000 . . 1.0E-255 0.000 0.063 . 0.122 0.039 . 0.014 . 0.076 0.428 -0.067 . rs1665336 rs1665336 rs1665336 rs1665336 1 1538 10 1/0 0,255,255 +rs11266902 2 114354050 C T - WASH2P 33145 WAS protein family homolog 2 pseudogene NR_024077.2 1 1959 0 substitution exon GRCh37 114354050 114354050 Chr2(GRCh37):g.114354050C>T 1042 1042 NR_024077.2:n.1042C>T 7 93 3' 85.5068 X.33 0.903657 XII.53 85.5068 X.33 0.903657 XII.53 0 rs11266902 yes no Frequency 1 0.000000 0 0.000058 0.000209 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 0.000209 4 2 0 0 0 0 2 0 0 69150 9550 11204 1412 8752 6092 27320 2832 1988 0.000029 0.000209 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 -0.360 190 PASS . . . . . . . . . . . . WASH2P:uc002tkh.3:exon2:c.C171T:p.N57N . . . 0.13559322 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 118.0 . . . . . . . . . . 0.3381 . . . . . . . . 6.868e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 . 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.65 0.49 182 ENSG00000146556 WASH2P WASH2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs11266902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.781e-05 0 0 0 0 9.98e-05 0 0 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs11266902 rs11266902 rs11266902 rs11266902 1 1538 10 1/0 0,222,255 +rs708637 2 114354064 T G - WASH2P 33145 WAS protein family homolog 2 pseudogene NR_024077.2 1 1959 0 substitution exon GRCh37 114354064 114354064 Chr2(GRCh37):g.114354064T>G 1056 1056 NR_024077.2:n.1056T>G 7 -92 5' 89.6127 X.54 0.993727 XII.55 89.6127 X.54 0.993727 XII.55 0 New Acceptor Site 114354065 2.80868 0.122993 71.968 rs708637 no no 0 0.000000 0 transversion T G T>G 1.000 1.093 196 PASS . . . . . . . . . . . . WASH2P:uc002tkh.3:exon2:c.T185G:p.I62S . . . 0.1495327 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 107.0 . . . . . . . . . . 0.6465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.59 0.52 182 ENSG00000146556 WASH2P WASH2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs17855873 rs17855873 rs708637 rs17855873 1 1538 10 1/0 0,228,255 +rs879286804 2 114354206 C G - WASH2P 33145 WAS protein family homolog 2 pseudogene NR_024077.2 1 1959 0 substitution intron GRCh37 114354206 114354206 Chr2(GRCh37):g.114354206C>G 1148-42 1148-42 NR_024077.2:n.1148-42C>G p.? p.? 8 7 -42 3' 87.22 8.69323 0.421749 X.59 87.22 8.69323 0.421749 10.456 0 114354209 -20.2941 rs879286804 no no 0 0.000000 0 0.004655 0.008088 0.000000 0.000000 0.000641 0.000000 0.004658 0.001190 0.000000 0.008088 125 62 0 0 1 0 58 4 0 26850 7666 776 208 1560 0 12452 3360 828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 62 0 0 1 0 58 4 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion C G C>G 0.000 0.367 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.1892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.53 0.34 182 ENSG00000146556 WASH2P WASH2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0081 0.0047 0 0 0.0006 0.0012 0.0047 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs2974805 rs2974805 rs2974805 rs2974805 1 1538 10 1/0 0,246,255 +rs35067994 (chr2:114425436 T/C) 2 114425436 T C Not on a known gene +rs12476915 2 116283581 C T - DPP10 20823 Dipeptidyl peptidase like 10 NM_001321905.1 1 6334 2442 NP_001308834.1 substitution intron GRCh37 116283581 116283581 Chr2(GRCh37):g.116283581C>T 492+33 492+33 NM_001321905.1:c.492+33C>T p.? p.? 6 6 608209 33 5' 82.8297 9.65432 0.928988 1.88688 82.8297 9.65432 0.928988 1.97364 0 rs12476915 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002117 0.000346 0.002665 0.007895 0.000000 0.000868 0.002598 0.001280 0.003335 0.007895 522 8 73 67 0 21 303 31 19 246574 23132 27394 8486 16852 24190 116606 24216 5698 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000351 1 0 0 0 0 0 0 0 1 520 8 73 67 0 21 303 31 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4405 12988 17 1 18 0.00197674 0.000226963 0.00138398 0.00197674 0.000226963 0.00138398 72 transition C T C>T 0.000 -1.167 255 PASS . 0.0023 0.01 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.6060606 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . -0.0382 . . . . . . . . 1.896e-03 . . . 0.0003 0.0020 0.0025 0 0.0011 0.0032 0.0044 0.0008 0.0001 0.0018 0.0025 0 0.0009 0.0026 0.0046 0.0008 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.42 0.28 182 ENSG00000175497 DPP10 DPP10 . . . . . . 182 0.00280103 64976 174 0.00290068 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12476915 . . . . . . . . . . . . . . . . . . . . . . . 0.001384 . . . . . 0.0003 0.0022 0.0025 0.0078 0 0.0013 0.0027 0.0038 0.0009 0.0005 0.0015 0.0072 0.0099 0 0.0011 0.0018 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs12476915 rs12476915 rs12476915 rs12476915 1 1538 10 1/0 0,255,255 +. 2 118850876 T TGAG - INSIG2 20452 Insulin induced gene 2 NM_001321329.1 1 2642 678 NP_001308258.1 Q9Y5U4 duplication intron GRCh37 118850903 118850904 Chr2(GRCh37):g.118850901_118850903dup -3232 -3230 NM_001321329.1:c.-138-3094_-138-3092dup p.? p.? 2 1 608660 -3091 3' 94.0926 XII.54 0.991624 10.0157 94.0926 XII.54 0.991624 10.0157 0 0.005714 0.004049 0.010870 0.000000 0.000000 0.000000 0.000992 0.028000 0.016667 0.028000 12 2 1 0 0 0 1 7 1 2100 494 92 48 148 0 1008 250 60 0.166667 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.285714 0.000000 2 0 0 0 0 0 0 2 0 6 1 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 PASS 234 Genomes GAG 255 Pass . . . . . . . . . . . . . . . . 0.39361703 . . . 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 94 . . INTRON(MODIFIER||||INSIG2|mRNA|CODING|NM_016133|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000125629 INSIG2 INSIG2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0057 0.0109 0 0 0.028 0.0010 0.0167 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +. 2 118851152 AGATGAT A - INSIG2 20452 Insulin induced gene 2 NM_001321329.1 1 2642 678 NP_001308258.1 Q9Y5U4 deletion intron GRCh37 118851164 118851169 Chr2(GRCh37):g.118851164_118851169del -2969 -2964 NM_001321329.1:c.-138-2831_-138-2826del p.? p.? 2 1 608660 -2826 3' 94.0926 XII.54 0.991624 10.0157 94.0926 XII.54 0.991624 10.0157 0 rs746957859 no no 0 0.000000 0 0.002390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.011013 0.000000 0.011013 5 0 0 0 0 0 0 5 0 2092 724 84 12 28 0 730 454 60 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 RF 137 Genomes TGATGA 255 Pass . . . . . . . . . . . . . . . . 0.4 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . INTRON(MODIFIER||||INSIG2|mRNA|CODING|NM_016133|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000125629 INSIG2 INSIG2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs746957859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0024 0 0 0 0.0110 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +rs148442092 2 121708869 G A - GLI2 4318 GLI family zinc finger 2 NM_005270.4 1 6769 4761 NP_005261.2 P10070 substitution missense exon GRCh37 121708869 121708869 Chr2(GRCh37):g.121708869G>A 305 305 NM_005270.4:c.305G>A p.Arg102Gln p.Arg102Gln 3 165230 51 3' 91.7831 X.28 0.980053 XI.89 91.7831 X.28 0.980053 11.0024 0 New Acceptor Site 121708871 5.78042 0.174188 83.1327 rs148442092 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000123 0.000916 0.000058 0.000000 0.000265 0.000032 0.000016 0.000039 0.000155 0.000916 34 22 2 0 5 1 2 1 1 276970 24020 34410 10134 18864 30778 126518 25788 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 22 2 0 5 1 2 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4402 13002 0 4 4 0 0.000907853 0.00030755 0 0.000907853 0.00030755 100 RCV000513069.1 germline clinical testing VUS 1 not provided COSM6019836 Breast 0.000381 2628 transition G A G>A 1.000 4.241 R Arg CGG 0.207 Q Gln CAG 0.744 102 13 11 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.31 0.00 Deleterious 0 III.76 bad 1.1E-3 8.461E-5 255 PASS . 0.0005 . 0.0017 . . 0.0002 . 0.001 . . . . GLI2:NM_005270:exon3:c.G305A:p.R102Q . . 0.46031746 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.939 . @ . . . . . 1 1.000 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R102Q|GLI2|mRNA|CODING|NM_005270|NM_005270.ex.3) 0.0009 0.0003 . 0.0009 0.0003 . . 0.5819 0.584 0.582 c . . . . . 1.026e-04 . . . 0.0009 0.0001 8.649e-05 0.0004 0 2.393e-05 0 0 0.0009 0.0001 8.916e-05 0.0003 0 1.844e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.700 . . exonic exonic exonic . . 0.505 0.0002 . . . 0.66 0.61 182 ENSG00000074047 GLI2 GLI2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.788 0.110 . . 37 . 0.792 . . 0.819 . . . 0.718 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.899 . . 0.764 . . . . . . 0 0.721 . . . . . 0.626 . 0.760 . HET 0.01 rs148442092 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0017482517482517483 0.0 13.8195 0.00107 . V.18 IV.31 . 0.010000 . . . Name\x3dnsv834349 0.000308 . 0.986 . . IV.31 0.0006 8.535e-05 5.957e-05 0 0.0003 4.485e-05 1.793e-05 0.0002 3.249e-05 0.0015 0.0004 0 0 0 0 0 0 . . 0.567 . 1.429 1.429000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.372 0.999 . 0.990 . 0.219 1.429 0.917 0.0017 . . rs148442092 rs148442092 1 1538 10 1/0 0,249,255 +rs180874513 2 122206041 G T - CLASP1 17088 Cytoplasmic linker associated protein 1 NM_015282.2 -1 8092 4617 NP_056097.1 Q7Z460 substitution intron GRCh37 122206041 122206041 Chr2(GRCh37):g.122206041G>T 1692-140 1692-140 NM_015282.2:c.1692-140C>A p.? p.? 18 17 605852 -140 3' 82.3558 5.83188 0.86964 5.80546 82.3558 5.83188 0.86964 5.80546 0 rs180874513 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000800 0.001000 0.000000 0.001000 0.000000 0.002582 0.000801 0.001193 0.003311 0.000000 0.000000 0.004264 0.001432 0.002037 0.004264 80 7 1 1 0 0 64 5 2 30980 8734 838 302 1622 0 15010 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 7 1 1 0 0 64 5 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion C A C>A 0.000 0.044 111 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0006 . . 0.001 0.001 . . . . . 1.0 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . 0.0480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.27 0.13 182 ENSG00000074054 CLASP1 CLASP1 . . . . . . 248 0.00381679 64976 245 0.00408429 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs180874513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.44 . . . . . . . . . 0.0008 0.0026 0.0012 0.0033 0 0.0014 0.0043 0.0020 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.002 . . rs180874513 rs180874513 1 1538 255 1.I 0,0,255 +rs114237530 (chr2:127657129 C/T) 2 127657129 C T Not on a known gene +. 2 128284233 C G - IWS1 25467 IWS1 homolog (S. cerevisiae) NM_017969.2 -1 3000 2460 NP_060439.2 Q96ST2 substitution upstream GRCh37 128284233 128284233 Chr2(GRCh37):g.128284233C>G -449 -449 NM_017969.2:c.-449G>C p.? p.? 1 -483 5' 80.5382 VI.52 0.50967 8.08367 80.5382 VI.52 0.50967 8.08367 0 Cryptic Acceptor Strongly Activated 128284227 0.002075 1.20614 0.026387 65.6843 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 0.000019 1 0 0 0 0 0 1 0 0 143680 6490 23850 8098 10122 22594 52098 16656 3772 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 75 Exomes transversion G C G>C 0.000 -0.602 255 PASS . . . . . . . . . . . ENSG00000163166:ENST00000409725:exon1:c.G28C:p.D10H . . . . 0.53125 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.144 . @ . . . . . 3 0.041 . . 32.0 . . UPSTREAM(MODIFIER||||IWS1|mRNA|CODING|NM_017969|) . . . . . . . -0.7792 -1.004 -0.779 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic upstream upstream . . 0.045 @ . . . . . . ENSG00000163166 IWS1 IWS1 . . . 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.344 . . 0.411 . . . . . . . . . . . . . . . . . . . . 0.092 . . . . . . 0 . . . . . . . . . . . . 0 0.274 . . . . . 0.144 . 0.219 . HET 0.14 . . . . . . . . . . . . . 5.1851 . ENST00000409725 III.87 -3.39 . 0.040000 . . . . . . 0.054 . . . 0 6.96e-06 0 0 0 0 1.919e-05 0 0 . . . . . . . . . . 0.040 . -0.661 -0.661000 . . 0.040000 . . 1.0E-255 0.000 0.063 . 0.117 0.008 . 0.027 . 0.490 -0.661 0.598 . . . . . 1 1538 10 1/0 0,255,255 +rs201089507 2 128750924 C T - SAP130 29813 Sin3A-associated protein, 130kDa NM_001145928.1 -1 4173 3252 NP_001139400.1 substitution intron GRCh37 128750924 128750924 Chr2(GRCh37):g.128750924C>T 1434-42 1434-42 NM_001145928.1:c.1434-42G>A p.? p.? 12 11 609697 -42 3' 83.838 X.15 0.892872 5.63564 83.838 X.15 0.892872 5.58987 0 rs201089507 yes no Frequency 1 C 0.000000 0 0.000870 0.000044 0.000350 0.000000 0.000000 0.001019 0.000543 0.004770 0.000189 0.004770 205 1 9 0 0 23 61 110 1 235708 22636 25712 7110 17054 22572 112270 23062 5292 0.000017 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000087 0.000000 2 0 0 0 0 1 0 1 0 201 1 9 0 0 21 61 108 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 64 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5588235 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.1151 . . . . . . . . 7.977e-04 . . . 9.812e-05 0.0007 8.729e-05 0 0.0042 0.0006 0 0.0009 0.0001 0.0007 9.001e-05 0 0.0039 0.0006 0 0.0010 . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.26 182 ENSG00000136715 SAP130 SAP130 . . . . . . 45 0.000692563 64976 45 0.000750175 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201089507 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834367 0.000154 . . . . . 7.188e-05 0.0009 0.0004 0 0 0.0049 0.0006 0.0002 0.0010 0 0.0006 0 0 0 0.0043 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs201089507 rs201089507 1 1538 10 1/0 0,255,255 +rs549294387 2 130872766 A T - POTEF 33905 POTE ankyrin domain family, member F NM_001099771.2 -1 4337 3228 NP_001093241.1 A5A3E0 substitution intron GRCh37 130872766 130872766 Chr2(GRCh37):g.130872766A>T 636+21 636+21 NM_001099771.2:c.636+21T>A p.? p.? 4 4 21 5' 83.7411 9.54919 0.994824 2.63061 83.7411 9.54919 0.994824 2.45694 0 rs549294387 yes no Frequency/1000G 2 0.000000 0 0.096845 0.071100 0.135000 0.112100 0.065600 0.115300 0.000004 0.000000 0.000000 0.000000 0.000053 0.000000 0.000000 0.000000 0.000000 0.000053 1 0 0 0 1 0 0 0 0 273530 23152 34218 10042 18750 30678 124644 25668 6378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.851 177 PASS . . . . . 0.071 0.097 0.12 0.11 0.066 0.14 ENSG00000196604:ENST00000361163:exon2:c.T657A:p.Y219X . . . . 0.10752688 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.066 . @ . . . . . 2 0.482 . . 93.0 . . INTRON(MODIFIER||||POTEF|mRNA|CODING|NM_001099771|) . . . . . . . -0.8232 -1.015 -0.823 c . . . . . 2.392e-05 . . . 0 2.352e-05 0 0.0002 0 0 0.0014 0 0 2.008e-05 0 0.0003 0 0 0 0 stopgain . . . . . exonic intronic intronic . . 0.197 0.0968 . . . . . . ENSG00000196604 POTEF POTEF . . . 0.000 0.029 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.113 . . . LowAF 0 rs549294387 . . . . . . . . . . . . IV.91 . ENST00000361163 I.13 I.13 . 0.820000 . . . . . . 0.065 . . . 0 0 0 0 0 0 0 0 0 0 3.268e-05 0 0 0.0006 0 0 0 . . 0.133 . 0.780 0.780000 . . 0.820000 . . 1.0E-177 0.000 0.063 . 0.074 0.034 . 0.091 . 0.284 0.780 0.800 . . . . . 1 1538 10 1/0 0,230,255 +rs199735440 2 130872772 T G - POTEF 33905 POTE ankyrin domain family, member F NM_001099771.2 -1 4337 3228 NP_001093241.1 A5A3E0 substitution intron GRCh37 130872772 130872772 Chr2(GRCh37):g.130872772T>G 636+15 636+15 NM_001099771.2:c.636+15A>C p.? p.? 4 4 15 5' 83.7411 9.54919 0.994824 2.63061 83.7411 9.54919 0.994824 2.77375 0 rs199735440 yes no Frequency 1 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000107 0.000000 0.000000 0.000039 0.000000 0.000107 3 0 0 0 2 0 0 1 0 273174 23084 34178 10022 18730 30638 124512 25640 6370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.521 197 PASS . . . . . . . . . . . ENSG00000196604:ENST00000361163:exon2:c.A651C:p.Q217H . . . . 0.1509434 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.075 . @ . . . . . 2 0.027 . . 106.0 . . INTRON(MODIFIER||||POTEF|mRNA|CODING|NM_001099771|) . . . . . . . -0.8606 -1.122 -0.861 c . . . . . 2.403e-05 . . . 0 2.354e-05 0 0.0002 0 0 0.0015 0 0 2.009e-05 0 0.0003 0 0 0 0 nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.066 @ . . . 0.37 0.42 182 ENSG00000196604 POTEF POTEF . . . 0.000 0.029 . . . . . . . . . 0 . . . . . . T 0.000 0.000 . . 37 . 0.216 . . 0.316 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.105 . 0.044 . HET 0.09 rs199735440 . . . . . . . . . . . . IV.41 . ENST00000361163 I.13 -2.2 . 0.050000 . . . . . . 0.032 . . . 0 0 0 0 0 0 0 0 0 0 9.827e-05 0 0 0.0013 0.0003 0 0 . . 0.133 . -0.560 -0.560000 . . 0.050000 . . 1.0E-197 0.000 0.063 . 0.062 0.005 . 0.152 . 0.035 -0.560 -1.019 . . . rs199735440 rs199735440 1 1538 10 1/0 0,228,255 +rs200596208 2 130872791 A G - POTEF 33905 POTE ankyrin domain family, member F NM_001099771.2 -1 4337 3228 NP_001093241.1 A5A3E0 substitution missense exon GRCh37 130872791 130872791 Chr2(GRCh37):g.130872791A>G 632 632 NM_001099771.2:c.632T>C p.Ile211Thr p.Ile211Thr 4 -5 5' 83.7411 9.54919 0.994824 2.63061 83.7411 9.54919 0.991443 III.27 -0.00113286 Ankyrin repeat Ankyrin repeat-containing domain rs200596208 yes no Frequency 1 0.000000 0 0.000059 0.000087 0.000029 0.000000 0.000215 0.000033 0.000040 0.000079 0.000158 0.000215 16 2 1 0 4 1 5 2 1 271238 22942 34008 9990 18562 30466 123516 25430 6324 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 1 0 4 1 5 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1191781|COSM1191781|COSM1191781|COSM1191781|COSM1191781 Upper aerodigestive tract|Thyroid|Liver|Large intestine|Central nervous system 0.001608|0.002677|0.000422|0.000450|0.000420 1244|747|2371|2220|2383 transition T C T>C 0.992 0.367 I Ile ATA 0.163 T Thr ACA 0.280 211 15 1 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.91 IV.32 221 PASS . . . . . . . . . . . . POTEF:uc010fmh.2:exon4:c.T632C:p.I211T POTEF:NM_001099771:exon4:c.T632C:p.I211T . . 0.21698113 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.062 . @ . . . . . 1 0.027 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I211T|POTEF|mRNA|CODING|NM_001099771|NM_001099771.ex.4) . . . . . . . -1.3381 -1.379 -1.338 c . . . . . 3.225e-05 . . . 0.0001 2.398e-05 0 0 0 0 0 6.257e-05 0 1.021e-05 0 0 0 0 0 6.292e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.648 . . exonic exonic exonic . . 0.126 @ . . . 0.37 0.33 182 ENSG00000196604 POTEF POTEF . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.058 . . . . T 0.170 0.006 . . 37 . 0.444 . . 0.165 . . . 0.274 0.202 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.540 . . 0 0 0 0 0 0 . 0.174 . . 0.139 . . . . . . 0 0.220 . . . . . 0.092 . 0.399 . HET 0.21 rs200596208 . . . . . . . . . . . . 4.0452 . . I.13 -0.185 . 0.590000 A5A3E0 . . . . . 0.265 . . . 0 2.073e-05 0 0 0 0 3.673e-05 0 3.282e-05 0.0002 0.0004 0.0012 0 0.0027 0.0006 6.837e-05 0.0010 . . 0.133 . -0.249 -0.249000 . . 0.590000 . . 1.0E-221 0.999 0.424 . 0.016 0.003 . 0.439 . 0.002 -0.249 0.800 . . . rs200596208 rs200596208 1 1538 10 1/0 0,234,255 +rs574350751 2 131220830 C T - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution missense exon GRCh37 131220830 131220830 Chr2(GRCh37):g.131220830C>T 2787 2787 NM_001277406.1:c.2787G>A p.Met929Ile p.Met929Ile 15 888 3' 80.198 5.09505 0.952462 4.87861 80.198 5.09505 0.952462 4.87861 0 Actin-related protein rs574350751 yes no Frequency/1000G 2 C 0.174521 C 874 0.802516 0.565100 0.917200 0.852200 0.917500 0.854500 0.002988 0.002319 0.014706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.014706 12 8 4 0 0 0 0 0 0 4016 3450 272 0 14 102 122 6 50 0.000996 0.000000 0.014706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 8 8 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 0.367 M Met ATG 1.000 I Ile ATA 0.163 929 12 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.07 II.86 255 PASS . . . . . 0.57 0.8 0.85 0.85 0.92 0.92 ENSG00000196834:ENST00000451531:exon15:c.G2787A:p.M929I POTEI:uc031rpa.1:exon15:c.G2787A:p.M929I POTEI:NM_001277406:exon15:c.G2787A:p.M929I . . 0.57894737 . . @ 22 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.182 . @ . . . . . 1 0.244 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M929I|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.15) . . . . . . . -0.7819 -0.860 -0.782 c . . . . . 2.477e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . . 0.1745 . . . 0.27 0.13 182 ENSG00000196834 POTEI POTEI . . . 0.000 0.012 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.023 . . 0.393 . . . 0.021 0.182 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.127 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.682 . . . . . 0.052 . 0.030 . HET 0 rs574350751 . . . . . . . . . . . . II.68 . ENST00000451531 . . . 0.000000 . . . . . . 0.132 . . . 0 0.0014 0.0150 . 0 0 0 0 0 0.0076 0.0074 0 . . 0 0 0 . . 0.246 . 0.119 0.119000 . . 0.000000 . . 1.0E-255 0.994 0.380 . 0.153 0.945 . 0.135 . 0.246 0.119 -0.609 . rs7424053 rs7424053 rs7424053 rs7424053 1 1538 10 1/0 0,255,255 +. 2 131221103 G A - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution synonymous exon GRCh37 131221103 131221103 Chr2(GRCh37):g.131221103G>A 2514 2514 NM_001277406.1:c.2514C>T p.Ala838= p.Ala838Ala 15 615 3' 80.198 5.09505 0.952462 4.87861 80.198 5.09505 0.952462 4.87861 0 Actin-related protein 0.000039 0.000077 0.000000 0.000573 0.000000 0.000000 0.000018 0.000000 0.000313 0.000573 5 1 0 2 0 0 1 0 1 127960 12948 18530 3490 10356 12930 56944 9564 3198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.205 A Ala GCC 0.403 A Ala GCT 0.263 838 184 PASS . . . . . . . . . . . ENSG00000196834:ENST00000451531:exon15:c.C2514T:p.A838A POTEI:uc031rpa.1:exon15:c.C2514T:p.A838A POTEI:NM_001277406:exon15:c.C2514T:p.A838A . . 0.12105263 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 190.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A838|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.15) . . . . . . . -0.0453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196834 POTEI POTEI . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.837e-06 0 0.0003 0 0 0 0 0 0.0002 0.0003 0 0.0078 0 0 0.0001 0.0024 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,201,255 +rs2259635 2 131246963 G A - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution intron GRCh37 131246963 131246963 Chr2(GRCh37):g.131246963G>A 1198-111 1198-111 NM_001277406.1:c.1198-111C>T p.? p.? 8 7 -111 3' 90.8063 X.64 0.924058 4.48283 90.8063 X.64 0.924058 4.48283 0 rs2259635 no no 0 G 0.000000 0 0.001064 0.001073 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001073 1 1 0 0 0 0 0 0 0 940 932 6 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition C T C>T 0.472 0.044 255 PASS . . . . . . . . . . . . . . . . 0.56666666 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||POTEI|mRNA|CODING|NM_001277406|) . . . . . . . -0.2913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196834 POTEI POTEI . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2259635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0011 0 . . . 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2259635 rs2259635 rs2259635 rs2259635 1 1538 10 1/0 0,255,255 +rs28624496 2 131266613 A G - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution missense exon GRCh37 131266613 131266613 Chr2(GRCh37):g.131266613A>G 196 196 NM_001277406.1:c.196T>C p.Cys66Arg p.Cys66Arg 1 -326 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs28624496 yes no Frequency/1000G 2 G 0.000000 0 0.007987 0.000800 0.015300 0.001000 0.017900 0.007200 0.000042 0.000093 0.000000 0.000000 0.000000 0.000131 0.000042 0.000000 0.000000 0.000131 11 2 0 0 0 4 5 0 0 265026 21526 34014 9886 18108 30466 119710 25190 6126 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 0 0 0 4 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.035 -2.700 C Cys TGC 0.552 R Arg CGC 0.190 66 12 1 -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 353.86 0.00 Tolerated 0.63 IV.32 220 PASS . . . . . 0.0008 0.008 0.0072 0.001 0.018 0.015 ENSG00000196834:ENST00000451531:exon1:c.T196C:p.C66R POTEI:uc031rpa.1:exon1:c.T196C:p.C66R POTEI:NM_001277406:exon1:c.T196C:p.C66R . . 0.21341464 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.001 . . 164.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C66R|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.1) . . . . . . . -1.8558 -2.060 -1.856 c . . . . . . . . . 0.0004 0.0005 0 0 0 0.0009 0 0.0001 0 6.29e-05 0 0 0 0.0001 0 6.414e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.757 . . exonic exonic exonic . . 0.124 0.0080 . . . 0.3 0.08 182 ENSG00000196834 POTEI POTEI . . . 0.000 0.062 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.526 . . 0.497 . . . 0.085 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.080 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.054 . HET 0.9 rs28624496 . . . . . . . . . . . . . . ENST00000451531 0.109 -0.218 . 1.000000 . . . . . . 0.001 . . . 0 2.49e-05 0 0 0 0 1.841e-05 0 0.0001 0.0003 0.0002 0 0 0 0 0.0003 0 . . 0.133 . -2.770 -2.770000 . . 1.000000 . . 1.0E-220 0.001 0.137 . 0.043 0.171 . 0.018 . 0.003 -2.770 -2.067 . rs28624496 rs28624496 rs28624496 rs28624496 1 1538 10 1/0 0,215,255 +rs547816996 2 131266641 T C - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution synonymous exon GRCh37 131266641 131266641 Chr2(GRCh37):g.131266641T>C 168 168 NM_001277406.1:c.168A>G p.Thr56= p.Thr56Thr 1 -354 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs547816996 yes no Frequency/1000G 2 T 0.000000 0 0.009984 0.027200 0.014300 0.000000 0.000000 0.000000 0.002139 0.021408 0.001213 0.004789 0.000000 0.001249 0.000198 0.000000 0.001530 0.021408 549 391 41 47 0 38 23 0 9 256698 18264 33792 9814 17624 30428 116140 24752 5884 0.000101 0.001095 0.000000 0.000611 0.000000 0.000000 0.000000 0.000000 0.000000 13 10 0 3 0 0 0 0 0 523 371 41 41 0 38 23 0 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.016 0.125 T Thr ACA 0.280 T Thr ACG 0.116 56 169 PASS . . . . . 0.027 0.01 . . . 0.014 ENSG00000196834:ENST00000451531:exon1:c.A168G:p.T56T POTEI:uc031rpa.1:exon1:c.A168G:p.T56T POTEI:NM_001277406:exon1:c.A168G:p.T56T . . 0.12686567 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 134.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T56|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.1) . . . . . . . -0.4117 . . . . . . . . 2.240e-03 . . . 0.0225 0.0031 0.0016 0 0 0.0007 0.0044 0.0014 0.0223 0.0022 0.0015 0 0 0.0004 0.0015 0.0014 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0100 . . . . . . ENSG00000196834 POTEI POTEI . . . . . . 59 0.000908028 64976 13 0.000216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs547816996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0198 0.0018 0.0012 0.0048 0 0 0.0002 0.0017 0.0012 0.0268 0.0074 0.0037 0.0066 0 0 0.0004 0 . . . . . . . . . . . 1.0E-169 . . . . . . . . . . . . . rs72483397 . . 1 1538 10 1/0 0,217,255 +. 2 131266652 T C - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution missense exon GRCh37 131266652 131266652 Chr2(GRCh37):g.131266652T>C 157 157 NM_001277406.1:c.157A>G p.Thr53Ala p.Thr53Ala 1 -365 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240530 14128 33246 9662 16644 30478 108756 22236 5380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 77 Exomes transition A G A>G 0.004 -2.942 T Thr ACT 0.243 A Ala GCT 0.263 53 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.94 IV.32 200 PASS . . . . . . . . . . . ENSG00000196834:ENST00000451531:exon1:c.A157G:p.T53A POTEI:uc031rpa.1:exon1:c.A157G:p.T53A POTEI:NM_001277406:exon1:c.A157G:p.T53A . . 0.16 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.000 . . 125.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T53A|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.1) . . . . . . . -2.2406 -2.338 -2.241 c . . . . . 8.162e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.753 . . exonic exonic exonic . . 0.124 @ . . . . . . ENSG00000196834 POTEI POTEI . . . 0.000 0.071 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.092 0.004 . . 37 . 0.295 . . 0.110 . . . 0.007 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.030 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.200 . HET 1 . . . . . . . . . . . . . . . ENST00000451531 0.109 -0.218 . 1.000000 . . . . . . 0.003 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -2.995 -2.995000 . . 1.000000 . . 1.0E-200 0.001 0.137 . 0.016 0.326 . 0.019 . 0.001 -2.995 0.062 . . . . . 1 1538 10 1/0 0,222,255 +rs879223160 2 131266662 C G - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution missense exon GRCh37 131266662 131266662 Chr2(GRCh37):g.131266662C>G 147 147 NM_001277406.1:c.147G>C p.Gln49His p.Gln49His 1 -375 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs879223160 no no 0 C 0.000000 0 0.000192 0.000181 0.000247 0.000542 0.000000 0.000334 0.000163 0.000041 0.000366 0.000542 47 3 8 5 0 10 18 1 2 244674 16618 32362 9232 16870 29910 110112 24108 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 3 8 5 0 10 18 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.031 -1.247 Q Gln CAG 0.744 H His CAC 0.587 49 12 3 Olive baboon 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Tolerated 0.22 IV.32 226 PASS . . . . . . . . . . . ENSG00000196834:ENST00000451531:exon1:c.G147C:p.Q49H POTEI:uc031rpa.1:exon1:c.G147C:p.Q49H POTEI:NM_001277406:exon1:c.G147C:p.Q49H . . 0.23015873 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.000 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q49H|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.1) . . . . . . . -1.4720 -1.651 -1.472 c . . . . . 8.222e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.759 . . exonic exonic exonic . . 0.124 @ . . . . . . ENSG00000196834 POTEI POTEI . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.113 0.005 . . 37 . 0.468 . . 0.345 . . . 0.020 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.029 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.012 . HET 1 . . . . . . . . . . . . . . . ENST00000451531 0.109 -0.218 . 1.000000 . . . . . . 0.007 . . . 0 0.0002 0.0002 0.0005 0 0 0.0002 0.0004 0.0003 0.0010 0.0004 0 0 0 0.0005 0 0 . . 0.133 . -1.254 -1.254000 . . 1.000000 . . 1.0000000000000001E-226 0.001 0.137 . 0.062 0.334 . 0.037 . 0.019 -1.254 0.057 . . . . . 1 1538 10 1/0 0,228,255 +rs62164861 2 131280812 G A - CFC1B 33983 Cripto, FRL-1, cryptic family 1B NM_001079530.1 1 1160 672 NP_001072998.1 P0CG36 substitution missense exon GRCh37 131280812 131280812 Chr2(GRCh37):g.131280812G>A 433 433 NM_001079530.1:c.433G>A p.Ala145Thr p.Ala145Thr 5 -40 5' 83.1053 VIII.62 0.961412 9.11913 83.1053 VIII.62 0.961412 9.0683 0 Cryptic/Cripto, CFC domain rs62164861 yes no Frequency/1000G 2 G 0.000000 0 transition G A G>A 0.213 -0.037 A Ala GCC 0.403 T Thr ACC 0.361 145 13 9 Megabat 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 109.43 0.00 Tolerated 0.43 3.III good 3.461E-1 0.1551 255 PASS 0.02 0.05 0.05 0.01 0.09 . . . . . . ENSG00000152093:ENST00000281882:exon5:c.G433A:p.A145T CFC1B:uc002trl.2:exon5:c.G433A:p.A145T CFC1B:NM_001079530:exon5:c.G433A:p.A145T . . 0.5588235 . . @ 114 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.212 . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A145T|CFC1B|mRNA|CODING|NM_001079530.2|NM_001079530.2.ex.5) . . . . . . . -1.3249 -1.324 -1.325 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.823 . . exonic exonic exonic . . 0.146 @ . ENSG00000072135.8|ENSG00000184761.7 Esophagus_Mucosa|Testis 0.42 0.41 182 ENSG00000152093 CFC1B CFC1B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.110 . . . . T 0.254 0.010 . . 37 . 0.056 . . 0.153 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.098 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.039 . . . . . 0.061 . 0.185 . HET 0.42 rs62164861 . . . . . . . 0.046703296703296704 0.016260162601626018 0.049723756906077346 0.008741258741258742 0.09366754617414248 3.1548 . ENST00000281882 III.17 0.234 . 0.490000 P0CG36 . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.028 0.028000 . . 0.490000 . . 1.0E-255 0.000 0.063 . 0.313 0.039 . 0.245 . 0.132 0.028 -0.919 0.09 rs62164861 rs62164861 rs62164861 rs200159465 1 1538 10 1/0 0,226,230 +. 2 131280929 G T - CFC1B 33983 Cripto, FRL-1, cryptic family 1B NM_001079530.1 1 1160 672 NP_001072998.1 P0CG36 substitution intron GRCh37 131280929 131280929 Chr2(GRCh37):g.131280929G>T 472+78 472+78 NM_001079530.1:c.472+78G>T p.? p.? 5 5 78 5' 83.1053 VIII.62 0.961412 9.11913 83.1053 VIII.62 0.961412 9.49804 0 Cryptic Acceptor Strongly Activated 131280938 5.25307 0.20634 68.925 7.17718 0.670352 74.3777 transversion G T G>T 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.4369748 . . @ 104 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 238.0 . . INTRON(MODIFIER||||CFC1B|mRNA|CODING|NM_001079530.2|) . . . . . . . -0.1899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000225819 CFC1B CFC1B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 2 131354989 C A - CFC1 18292 Cripto, FRL-1, cryptic family 1 NM_032545.3 -1 1672 672 NP_115934.1 P0CG37 substitution intron GRCh37 131354989 131354989 Chr2(GRCh37):g.131354989C>A 472+78 472+78 NM_032545.3:c.472+78G>T p.? p.? 5 5 605194 78 5' 83.1053 VIII.62 0.961412 9.11913 83.1053 VIII.62 0.961412 9.49804 0 Cryptic Acceptor Strongly Activated 131354980 5.25307 0.20634 68.925 7.17718 0.670352 74.3777 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 0 0 0 10 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4236 Genomes transversion G T G>T 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.4108527 . . @ 106 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 258.0 . . . . . . . . . . 0.0669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000136698 CFC1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,237 +rs557993656 2 131369262 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131369262 131369262 Chr2(GRCh37):g.131369262A>G 157 157 NM_001277083.1:c.157A>G p.Thr53Ala p.Thr53Ala 1 -254 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs557993656 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.005300 0.001000 0.000000 0.002000 0.000000 0.000416 0.001650 0.000154 0.000108 0.000110 0.000033 0.000394 0.000910 0.000350 0.001650 103 26 5 1 2 1 44 22 2 247516 15762 32508 9284 18244 30158 111676 24176 5708 0.000008 0.000127 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 101 24 5 1 2 1 44 22 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.861 T Thr ACT 0.243 A Ala GCT 0.263 53 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.82 IV.32 255 PASS . . . . . 0.0053 0.002 . . 0.002 0.001 ENSG00000222038:ENST00000409602:exon1:c.A157G:p.T53A POTEJ:uc021vor.2:exon1:c.A157G:p.T53A POTEJ:NM_001277083:exon1:c.A157G:p.T53A . . 0.5116279 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.000 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T53A|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.1) . . . . . . . -2.1928 -2.283 -2.193 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.740 . . exonic exonic exonic . . 0.124 0.0020 . . . . . . ENSG00000222038 POTEJ POTEJ . . . 0.000 0.071 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.127 0.005 . . 37 . 0.285 . . 0.109 . . . 0.003 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.042 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.007 . HET 1 rs557993656 . . . . . . . . . . . . . . ENST00000409602 0.109 -0.218 . 1.000000 . . . . . . 0.002 . . . 0.0019 0.0002 0.0002 0.0001 0.0001 0 0.0002 0 3.316e-05 0.0011 0.0025 0 0 0 0.0074 0.0023 0.0029 . . 0.133 . -2.983 -2.983000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.400 . 0.035 . 0.001 -2.983 0.066 . . . . . 1 1538 10 1/0 0,255,255 +rs777955434 2 131369273 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution synonymous exon GRCh37 131369273 131369273 Chr2(GRCh37):g.131369273A>G 168 168 NM_001277083.1:c.168A>G p.Thr56= p.Thr56Thr 1 -243 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs777955434 yes no Frequency 1 G 0.000000 0 0.000617 0.004366 0.000284 0.000652 0.000000 0.000100 0.000429 0.000649 0.000911 0.004366 149 64 9 6 0 3 47 15 5 241596 14660 31642 9206 17868 30030 109576 23128 5486 0.000017 0.000273 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 144 60 9 6 0 2 47 15 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.012 0.125 T Thr ACA 0.280 T Thr ACG 0.116 56 162 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon1:c.A168G:p.T56T POTEJ:uc021vor.2:exon1:c.A168G:p.T56T POTEJ:NM_001277083:exon1:c.A168G:p.T56T . . 0.33333334 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T56|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.1) . . . . . . . -0.1298 . . . . . . . . 2.499e-05 . . . 0.0005 4.921e-05 0 0 0 0 0 7.038e-05 0.0003 2.649e-05 0 0 0 0 0 7.073e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs777955434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0049 0.0005 0.0003 0.0006 0 0 0.0004 0.0010 9.99e-05 0.0028 0.0025 0.0022 0.0065 0 0.0081 0.0014 0 . . . . . . . . . . . 1.0E-162 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 131374401 G A - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131374401 131374401 Chr2(GRCh37):g.131374401G>A 449 449 NM_001277083.1:c.449G>A p.Gly150Glu p.Gly150Glu 2 39 3' 80.4224 6.24144 0.844189 5.64224 80.4224 6.24144 0.844189 5.56787 0 Ankyrin repeat Ankyrin repeat-containing domain transition G A G>A 0.803 0.044 G Gly GGA 0.246 E Glu GAA 0.417 150 12 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 231.75 0.00 Tolerated 1 II.83 187 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon2:c.G449A:p.G150E POTEJ:uc021vor.2:exon2:c.G449A:p.G150E POTEJ:NM_001277083:exon2:c.G449A:p.G150E . . 0.12765957 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.026 . @ . . . . . 1 0.092 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G150E|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.2) . . . . . . . -1.2164 -1.302 -1.216 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . 0.124 @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.172 . . 0.274 . . . 0.003 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.038 . 0.107 . LowAF 1 . . . . . . . . . . . . . II.95 . ENST00000409602 I.18 -0.225 . 1.000000 . . . . . . 0.057 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.600 -0.600000 . . 1.000000 . . 1.0E-187 0.962 0.335 . 0.043 0.002 . 0.193 . 0.092 -0.600 -0.066 . . . . . 1 1538 10 1/0 0,231,255 +. 2 131374497 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution intron GRCh37 131374497 131374497 Chr2(GRCh37):g.131374497A>G 525+20 525+20 NM_001277083.1:c.525+20A>G p.? p.? 2 2 20 5' 83.7411 9.54919 0.991443 3.53968 83.7411 9.54919 0.991443 3.93187 0 transition A G A>G 0.000 -1.570 181 PASS . . . . . . . . . . . . . . . . 0.116071425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 112.0 . . INTRON(MODIFIER||||POTEJ|mRNA|CODING|NM_001277083|) . . . . . . . -0.6117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 2 131374503 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution intron GRCh37 131374503 131374503 Chr2(GRCh37):g.131374503A>G 525+26 525+26 NM_001277083.1:c.525+26A>G p.? p.? 2 2 26 5' 83.7411 9.54919 0.991443 3.53968 83.7411 9.54919 0.991443 3.26164 0 New Donor Site 131374502 3.16681 0.431172 68.0404 transition A G A>G 0.000 -1.328 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . INTRON(MODIFIER||||POTEJ|mRNA|CODING|NM_001277083|) . . . . . . . -0.6625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +. 2 131387506 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution intron GRCh37 131387506 131387506 Chr2(GRCh37):g.131387506A>G 1016-16 1016-16 NM_001277083.1:c.1016-16A>G p.? p.? 7 6 -16 3' 79.1411 7.45096 0.156537 2.72844 79.1411 7.97158 0.102449 3.15765 -0.0918851 0.004337 0.042056 0.000000 0.000000 0.000000 0.000000 0.001087 0.000000 0.000000 0.042056 10 9 0 0 0 0 1 0 0 2306 214 196 22 114 178 920 556 106 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 9 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.161 0.044 226 PASS . . . . . . . . . . . . . . . . 0.23404256 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||POTEJ|mRNA|CODING|NM_001277083|) . . . . . . . -0.2397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 . 0 0 0 0.0425 0.0054 0 0 0 0 0.0012 0 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 131403652 G A - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution intron GRCh37 131403652 131403652 Chr2(GRCh37):g.131403652G>A 1486-50 1486-50 NM_001277083.1:c.1486-50G>A p.? p.? 13 12 -50 3' 89.3117 10.065 0.972687 9.55518 89.3117 10.065 0.972687 9.42553 0 Cryptic Acceptor Strongly Activated 131403656 2.09227 0.072435 IV.52 0.238035 71.1648 0.000322 0.000720 0.000146 0.000000 0.000000 0.000116 0.000409 0.000310 0.000333 0.000720 36 8 2 0 0 1 19 5 1 111846 11104 13744 2762 10026 8600 46494 16110 3006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 8 2 0 0 1 19 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 9.0 . . INTRON(MODIFIER||||POTEJ|mRNA|CODING|NM_001277083|) . . . . . . . -0.5481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.34 182 ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.505e-05 0.0002 0 0 0 0 0 0.0001 0.0013 0.0013 0 0 0 0.0015 0.0014 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2599821 rs2599821 rs2599821 rs2599821 1 1538 10 1/0 0,255,255 +. 2 131403723 G A - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131403723 131403723 Chr2(GRCh37):g.131403723G>A 1507 1507 NM_001277083.1:c.1507G>A p.Glu503Lys p.Glu503Lys 13 22 3' 89.3117 10.065 0.972687 9.55518 89.3117 10.065 0.972687 9.13606 0 0.000041 0.000000 0.000000 0.000000 0.000127 0.000000 0.000070 0.000000 0.000000 0.000127 3 0 0 0 1 0 2 0 0 73676 5632 9472 1344 7876 5782 28598 12944 2028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.117 E Glu GAA 0.417 K Lys AAA 0.425 503 12 4 Chicken 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.52 II.81 255 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon13:c.G1507A:p.E503K POTEJ:uc021vor.2:exon13:c.G1507A:p.E503K POTEJ:NM_001277083:exon13:c.G1507A:p.E503K . . 0.33333334 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.332 . @ . . . . . 1 0.326 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E503K|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.13) . . . . . . . -0.7957 -1.024 -0.796 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.811 . . exonic exonic exonic . . 0.119 @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.088 0.004 . . 37 . 0.689 . . 0.610 . . . 0.719 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.062 . 0.287 . HET 0 . . . . . . . . . . . . . III.22 . ENST00000409602 0.686 -0.363 . 0.000000 . . . . . . 0.029 . . . 0 1.802e-05 0 0 0.0001 0 0 0 0 0 0.0001 0 0 0 0 0.0002 0 . . 0.133 . -0.146 -0.146000 . . 0.000000 . . 1.0E-255 0.055 0.214 . 0.043 0.027 . 0.329 . 0.056 -0.146 0.150 . . . . . 1 1538 10 1/0 0,255,255 +. 2 131403823 G A - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131403823 131403823 Chr2(GRCh37):g.131403823G>A 1607 1607 NM_001277083.1:c.1607G>A p.Arg536Lys p.Arg536Lys 13 -61 5' 94.2214 9.88355 0.998854 5.79578 94.2214 9.88355 0.998854 5.80075 0 New Acceptor Site 131403825 0.638093 0.008395 74.4159 0.000823 0.001752 0.000667 0.000000 0.001165 0.002183 0.000728 0.000000 0.001028 0.002183 56 9 6 0 8 11 20 0 2 68060 5138 8992 1298 6868 5040 27468 11310 1946 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 9 6 0 8 11 20 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 R Arg AGG 0.207 K Lys AAG 0.575 536 12 3 Zebrafish 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Tolerated 1 II.83 255 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon13:c.G1607A:p.R536K POTEJ:uc021vor.2:exon13:c.G1607A:p.R536K POTEJ:NM_001277083:exon13:c.G1607A:p.R536K . . 0.3529412 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.083 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R536K|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.13) . . . . . . . -0.9235 -1.127 -0.923 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.809 . . exonic exonic exonic . . 0.124 @ . . . 0.37 0.34 182 ENSG00000222038 POTEJ POTEJ . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.033 0.002 . . 37 . 0.626 . . 0.505 . . . 0.520 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.107 . . . . . 0.062 . 0.176 . HET 0 . . . . . . . . . . . . . III.96 . ENST00000409602 0.778 -0.231 . 0.320000 . . . . . . 0.019 . . . 0 0.0005 0.0007 0 0.0010 0 0.0001 0.0008 0.0022 0.0027 0.0016 0 0 0.0018 0 0.0018 0.0014 . . 0.133 . -0.099 -0.099000 . . 0.320000 . . 1.0E-255 0.002 0.151 . 0.062 0.023 . 0.084 . 0.073 -0.099 0.150 . rs4044394 rs4044394 rs4044394 rs4044394 1 1538 10 1/0 0,255,255 +. 2 131414736 C T - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution synonymous exon GRCh37 131414736 131414736 Chr2(GRCh37):g.131414736C>T 2403 2403 NM_001277083.1:c.2403C>T p.Ala801= p.Ala801Ala 15 615 3' 80.198 5.09505 0.952462 4.48967 80.198 5.09505 0.952462 4.48967 0 Actin-related protein 0.000979 0.000436 0.001377 0.000000 0.000000 0.000000 0.001590 0.000597 0.000000 0.001590 25 3 1 0 0 0 19 2 0 25536 6884 726 194 1594 0 11952 3352 834 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 3 1 0 0 0 19 2 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition C T C>T 1.000 0.205 A Ala GCC 0.403 A Ala GCT 0.263 801 223 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon15:c.C2403T:p.A801A POTEJ:uc021vor.2:exon15:c.C2403T:p.A801A POTEJ:NM_001277083:exon15:c.C2403T:p.A801A . . 0.22131148 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A801|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.15) . . . . . . . 0.0548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0010 0.0014 0 0 0.0006 0.0016 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +rs756689031 2 131415073 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131415073 131415073 Chr2(GRCh37):g.131415073A>G 2740 2740 NM_001277083.1:c.2740A>G p.Ser914Gly p.Ser914Gly 15 952 3' 80.198 5.09505 0.952462 4.48967 80.198 5.09505 0.952462 4.48967 0 Actin-related protein 0.000101 0.000287 0.000088 0.000000 0.000106 0.000163 0.000074 0.000000 0.000318 0.000287 27 6 3 0 2 5 9 0 2 268000 20874 34000 9802 18826 30610 122028 25580 6280 0.000060 0.000000 0.000059 0.000000 0.000000 0.000131 0.000066 0.000000 0.000318 8 0 1 0 0 2 4 0 1 11 6 1 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 1.900 S Ser AGC 0.243 G Gly GGC 0.342 914 12 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.31 II.81 111 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon15:c.A2740G:p.S914G POTEJ:uc021vor.2:exon15:c.A2740G:p.S914G POTEJ:NM_001277083:exon15:c.A2740G:p.S914G . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.057 . . 13.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S914G|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.15) . . . . . . . -1.5576 -1.503 -1.558 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . 0.174 @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.294 0.011 . . 37 . 0.007 . . 0.417 . . . 0.000 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.133 . 0.056 . HOM 1 . . . . . . . . . . . . . IV.02 . ENST00000409602 0.736 0.736 . 1.000000 . . . . . . 0.044 . . . 7.436e-05 7.937e-05 6.025e-05 0 0 0 8.341e-05 0.0004 0.0002 0.0007 0.0003 0.0012 0 0.0013 0 0 0 . . 0.246 . -1.392 -1.392000 . . 1.000000 . . 1.0E-111 1.000 0.715 . 0.124 0.967 . 0.648 . 0.025 -1.392 -1.868 . . . . . 1 1538 255 1.I 0,0,255 +rs187664008 2 131829557 G A - FAM168B 27016 Family with sequence similarity 168 member B NM_001009993.3 -1 5435 588 NP_001009993.2 A1KXE4 substitution intron GRCh37 131829557 131829557 Chr2(GRCh37):g.131829557G>A 71-46 71-46 NM_001009993.3:c.71-46C>T p.? p.? 3 2 -46 3' 92.6888 9.41541 0.975489 7.12568 92.6888 9.41541 0.975489 7.55436 0 Cryptic Acceptor Weakly Activated 131829546 2.92492 0.186036 78.3998 2.58927 0.219851 82.5017 rs187664008 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.012300 0.000000 0.006000 0.001400 0.007894 0.001491 0.001679 0.017590 0.000000 0.008174 0.011153 0.007342 0.009335 0.017590 2044 32 56 167 0 222 1335 175 57 258932 21460 33352 9494 17824 27158 119702 23836 6106 0.000116 0.000000 0.000000 0.000843 0.000000 0.000074 0.000167 0.000000 0.000000 15 0 0 4 0 1 10 0 0 2000 29 56 152 0 217 1314 175 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.086 255 PASS . 0.0027 0.0028 . 0.01 . 0.0038 0.0014 . 0.006 0.012 . . . . . 0.68292683 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FAM168B|mRNA|CODING|NM_001009993|) . . . . . . . -0.1392 . . . . . . . . 7.898e-03 . . . 0.0013 0.0069 0.0012 0 0.0066 0.0097 0.0138 0.0088 0.0013 0.0083 0.0011 0 0.0085 0.0116 0.0125 0.0088 . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.4 0.18 182 ENSG00000152102 FAM168B FAM168B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187664008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0079 0.0017 0.0177 0 0.0073 0.0111 0.0097 0.0082 0.0019 0.0075 0 0.0134 0 0.0076 0.0117 0.0075 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187664008 rs187664008 1 1538 10 1/0 0,255,255 +rs763522445 2 131981279 T C - POTEE 33895 POTE ankyrin domain family, member E NM_001083538.1 1 3440 3228 NP_001077007.1 Q6S8J3 substitution missense exon GRCh37 131981279 131981279 Chr2(GRCh37):g.131981279T>C 632 632 NM_001083538.1:c.632T>C p.Ile211Thr p.Ile211Thr 2 608914 -5 5' 83.7411 9.54919 0.994824 2.43266 83.7411 9.54919 0.991443 3.38476 -0.00113286 Ankyrin repeat Ankyrin repeat-containing domain rs763522445 yes no Frequency 1 0.000000 0 0.001218 0.000200 0.000000 0.000000 0.014204 0.000459 0.000000 0.000000 0.000618 0.014204 154 3 0 0 144 5 0 0 2 126420 14984 13106 3474 10138 10896 53846 16738 3238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 154 3 0 0 144 5 0 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.992 0.448 I Ile ATA 0.163 T Thr ACA 0.280 211 12 4 Rat -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 92.35 0.00 Tolerated 0.13 II.85 good 2.578E-1 0.3032 180 PASS . . . . . . . . . . . . POTEE:uc002tsn.2:exon2:c.T632C:p.I211T POTEE:NM_001083538:exon2:c.T632C:p.I211T . . 0.11363637 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.018 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I211T|POTEE|mRNA|CODING|NM_001083538|NM_001083538.ex.2) . . . . . . . -1.3622 -1.382 -1.362 c . . . . . 1.231e-04 . . . 0 0.0013 0 0.0180 0 0 0 0 0 0.0009 0 0.0127 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.648 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000188219 POTEE POTEE . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.058 . . . . . . . . . 37 . 0.404 . . 0.156 . . . 0.360 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.174 . . 0.139 . . . . . . 0 0.046 . . . . . 0.090 . 0.345 . LowAF 0.2 rs763522445 . . . . . . . . . . . . 4.0041 . . I.16 -0.171 . 0.610000 Q6S8J3 . . . . . 0.248 . . . 0 0.0014 0 0 0.0147 0 0 0.0009 0.0005 0.0004 0.0007 0 0 0.0117 0 0 0 . . 0.133 . -0.227 -0.227000 . . 0.610000 . . 1.0E-180 1.000 0.715 . 0.016 0.003 . 0.377 . 0.002 -0.227 0.755 . . . . . 1 1538 10 1/0 0,233,255 +rs200658028 2 132010566 A G - POTEE 33895 POTE ankyrin domain family, member E NM_001083538.1 1 3440 3228 NP_001077007.1 Q6S8J3 substitution missense exon GRCh37 132010566 132010566 Chr2(GRCh37):g.132010566A>G 1672 1672 NM_001083538.1:c.1672A>G p.Asn558Asp p.Asn558Asp 13 608914 76 3' 89.3117 10.065 0.972687 8.80547 89.3117 10.065 0.972687 9.34092 0 rs200658028 yes no Frequency 1 0.000000 0 0.006819 0.000629 0.001143 0.012352 0.000068 0.004668 0.008019 0.018834 0.007533 0.018834 1253 12 23 69 1 77 676 363 32 183754 19082 20118 5586 14652 16494 84300 19274 4248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1253 12 23 69 1 77 676 363 32 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8407 4324 12731 37 2 39 0.00438181 0.000462321 0.00305403 0.00438181 0.000462321 0.00305403 41 transition A G A>G 0.000 -0.440 N Asn AAT 0.464 D Asp GAT 0.461 558 12 5 Chicken 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 243.59 22.66 Tolerated 0.53 II.85 good 9.576E-1 0.169 222 PASS . . . . . . . . . . . ENSG00000188219:ENST00000356920:exon13:c.A1672G:p.N558D . POTEE:NM_001083538:exon13:c.A1672G:p.N558D . . 0.21978022 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.282 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N558D|POTEE|mRNA|CODING|NM_001083538|NM_001083538.ex.13) 0.0005 0.0031 0.0044 0.0005 0.0031 0.0044 . -1.2831 -1.399 -1.283 c . . . . . 5.248e-03 . . . 0.0007 0.0066 0.0007 0 0.0318 0.0096 0.0171 0.0076 0.0006 0.0091 0.0008 0 0.0279 0.0133 0.0197 0.0077 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.809 . . exonic exonic exonic . . 0.102 @ . . . 0.43 0.67 182 ENSG00000188219 POTEE POTEE . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.591 . . 0.474 . . . 0.300 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.088 . . 0 0 0 0 0 0 . 0.135 . . 0.063 . . . . . . 0 0.912 . . . . . . . 0.007 . HET 0 rs200658028 . . . . . . . . . . . . . 5.47E-4 ENST00000356920 0.418 -0.836 . 0.010000 Q6S8J3 . . . 0.003054 . 0.004 . . . 0.0005 0.0066 0.0012 0.0123 7.673e-05 0.0184 0.0075 0.0063 0.0047 0.0008 0.0081 0 0.0134 0 0.0206 0.0105 0.0122 . . 0.246 . -0.457 -0.457000 . . 0.010000 . . 1.0E-222 0.001 0.137 . 0.043 0.128 . 0.189 . 0.051 -0.457 0.167 0.0044 . . rs200658028 rs200658028 1 1538 10 1/0 0,241,255 +rs775518269 2 132021200 C T - POTEE 33895 POTE ankyrin domain family, member E NM_001083538.1 1 3440 3228 NP_001077007.1 Q6S8J3 substitution synonymous exon GRCh37 132021200 132021200 Chr2(GRCh37):g.132021200C>T 2172 2172 NM_001083538.1:c.2172C>T p.Asp724= p.Asp724Asp 15 608914 273 3' 80.198 5.09505 0.952462 5.09664 80.198 5.09505 0.952462 5.09664 0 Actin-related protein rs775518269 yes no Frequency 1 0.000000 0 0.000189 0.000205 0.000140 0.000000 0.000178 0.000223 0.000222 0.000000 0.000823 0.000223 25 3 3 0 2 3 11 0 3 132414 14642 21470 4370 11236 13440 49510 14102 3644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 3 3 0 2 3 11 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 -0.037 D Asp GAC 0.539 D Asp GAT 0.461 724 182 PASS . . . . . . . . . . . ENSG00000188219:ENST00000356920:exon15:c.C2172T:p.D724D . POTEE:NM_001083538:exon15:c.C2172T:p.D724D . . 0.11724138 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 145.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D724|POTEE|mRNA|CODING|NM_001083538|NM_001083538.ex.15) . . . . . . . -0.4697 . . . . . . . . 6.402e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.61 182 ENSG00000188219 POTEE POTEE . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs775518269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0 0.0002 0 0.0002 0.0007 0.0002 0.0004 0.0002 0 0 0 0 0.0002 0.0011 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs62165872 rs62165872 rs62165872 rs62165872 1 1538 10 1/0 0,212,255 +rs763571201 2 132021542 C T - POTEE 33895 POTE ankyrin domain family, member E NM_001083538.1 1 3440 3228 NP_001077007.1 Q6S8J3 substitution synonymous exon GRCh37 132021542 132021542 Chr2(GRCh37):g.132021542C>T 2514 2514 NM_001083538.1:c.2514C>T p.Ala838= p.Ala838Ala 15 608914 615 3' 80.198 5.09505 0.952462 5.09664 80.198 5.09505 0.952462 5.09664 0 Actin-related protein rs763571201 yes no Frequency 1 0.000000 0 0.000402 0.000296 0.000151 0.000100 0.000000 0.000033 0.000734 0.000117 0.000326 0.000734 108 7 5 1 0 1 89 3 2 268788 23656 33048 9952 18830 30334 121250 25592 6126 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 7 5 1 0 1 89 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.205 A Ala GCC 0.403 A Ala GCT 0.263 838 208 PASS . . . . . . . . . . . ENSG00000188219:ENST00000356920:exon15:c.C2514T:p.A838A . POTEE:NM_001083538:exon15:c.C2514T:p.A838A . . 0.17813765 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 247.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A838|POTEE|mRNA|CODING|NM_001083538|NM_001083538.ex.15) . . . . . . . -0.0825 . . . . . . . . 3.157e-05 . . . 0 3.351e-05 0 0 0 2.421e-05 0 0.0001 0 1.902e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000188219 POTEE POTEE . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs763571201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.602e-05 9.157e-05 9.302e-05 0 0 0 0.0002 0 3.297e-05 0.0007 0.0030 0.0025 0.0037 0 0.0009 0.0055 0.0022 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,195,255 +rs537639562 2 132200383 C T - NOC2LP2 52286 NOC2 like nucleolar associated transcriptional repressor pseudogene 2 NR_002826.2 -1 2734 0 substitution exon GRCh37 132200383 132200383 Chr2(GRCh37):g.132200383C>T 2085 2085 NR_002826.2:n.2085G>A 1 rs537639562 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001118 0.000042 0.000117 0.000495 0.000000 0.000033 0.001995 0.001573 0.001094 0.001995 305 1 4 5 0 1 247 40 7 272694 23732 34108 10094 18624 30496 123806 25434 6400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 305 1 4 5 0 1 247 40 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.606 -1.570 255 PASS . . . . . . 0.0004 . . 0.002 . . LOC401010:uc002tst.2:exon1:c.G1619A:p.R540H . . . 0.4903846 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A695|LOC401010|Non-coding_transcript|NON_CODING|NR_002826|NR_002826.ex.1) . . . . . . . -0.7657 . . . . . . . . 1.098e-03 . . . 0 0.0009 0 0 0.0015 0.0018 0 0 0 0.0009 0 0 0.0024 0.0016 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0004 . . . . . . ENSG00000217950 LOC401010 LOC401010 . . . . . . 49 0.000754125 64976 47 0.000783516 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs537639562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0010 0.0001 0.0005 0 0.0017 0.0017 0.0009 3.279e-05 0.0001 0.0023 0 0 0 0.0006 0.0044 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 132248791 C A - MIR4784 41580 MicroRNA 4784 NR_039945.1 -1 77 0 substitution exon GRCh37 132248791 132248791 Chr2(GRCh37):g.132248791C>A 19 19 NR_039945.1:n.19G>T 1 0.000020 0.000000 0.000096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000096 1 0 1 0 0 0 0 0 0 50194 4984 10464 1236 7370 6134 17774 746 1486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Exomes transversion G T G>T 0.008 0.528 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . 0.8363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.26 0.28 182 ENSG00000265575 MIR4784 MIR4784 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.992e-05 9.557e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs78382545 rs78382545 1 1538 10 1/0 0,247,255 +. 2 132248791 C A - MZT2A 33187 Mitotic spindle organizing protein 2A NM_001085365.1 -1 693 477 NP_001078834.1 Q6P582 substitution intron GRCh37 132248791 132248791 Chr2(GRCh37):g.132248791C>A 319+658 319+658 NM_001085365.1:c.319+658G>T p.? p.? 2 2 613449 658 5' 81.7339 5.24236 0.840252 9.26947 81.7339 5.24236 0.840252 9.26947 0 0.000020 0.000000 0.000096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000096 1 0 1 0 0 0 0 0 0 50194 4984 10464 1236 7370 6134 17774 746 1486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Exomes transversion G T G>T 0.008 0.528 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . 0.8363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.26 0.28 182 ENSG00000265575 MIR4784 MIR4784 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.992e-05 9.557e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs78382545 rs78382545 1 1538 10 1/0 0,247,255 +. (chr2:132273796 G/GCA) 2 132273796 G GCA Not on a known gene +rs796327028 (chr2:132273798 C/T) 2 132273798 C T Not on a known gene +rs201215285 2 132914522 A G - ANKRD30BL 35167 Ankyrin repeat domain 30B-like NR_027019.1 -1 1727 0 substitution intron GRCh37 132914522 132914522 Chr2(GRCh37):g.132914522A>G 754+24 754+24 NR_027019.1:n.754+24T>C p.? p.? 3 3 24 5' 71.6826 7.06725 0.79123 0.703874 71.6826 7.06725 0.79123 0.854265 0 rs201215285 yes no Frequency 1 A 0.000000 0 0.005532 0.000749 0.006681 0.004602 0.000000 0.001953 0.007703 0.009265 0.003515 0.009265 519 10 43 14 0 17 339 88 8 93812 13350 6436 3042 6500 8704 44006 9498 2276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 519 10 43 14 0 17 339 88 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.063 -0.521 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.3224 . . . . . . . . 3.747e-03 . . . 0.0087 0.0276 0.0251 0 0.0976 0.0358 0.0571 0.0188 0.0063 0.0192 0.0320 0 0.0077 0.0371 0 0.0193 . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.33 0.21 182 ENSG00000163046 ANKRD30BL ANKRD30BL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201215285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0078 0.0077 0.0051 0 0.0126 0.0111 0.0060 0.0020 0 0.0007 0 0 0 0.0030 0.0008 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs201215285 rs201215285 1 1538 10 1/0 0,255,255 +rs201793747 2 133014614 C T - ANKRD30BL 35167 Ankyrin repeat domain 30B-like NR_027019.1 -1 1727 0 substitution upstream GRCh37 133014614 133014614 Chr2(GRCh37):g.133014614C>T -95089 -95089 NR_027019.1:n.-95089G>A p.? p.? 1 -95554 5' 68.1351 6.42714 0.907556 XI.86 68.1351 6.42714 0.907556 XI.86 0 rs201793747 yes no Frequency 1 0.000000 0 0.000777 0.000665 0.000059 0.000101 0.000000 0.000000 0.001334 0.000737 0.001633 0.001334 200 15 2 1 0 0 160 12 10 257472 22552 33884 9858 18554 30238 119982 16282 6122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 200 15 2 1 0 0 160 12 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.091 0.690 220 PASS . . . . . . . . . . . . . . . . 0.21138212 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 246.0 . . . . . . . . . . -0.1092 . . . . . . . . 8.090e-04 . . . 0.0002 0.0008 0.0003 0 0.0006 0.0008 0 0.0018 0.0003 0.0005 0.0003 0 0.0005 0.0003 0 0.0018 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.36 182 ENSG00000221288 MIR663B MIR663B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201793747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 3.023e-05 0.0001 0 7.607e-05 0.0009 0 0 0.0018 0.0035 0.0012 0 0 0.0035 0.0047 0.0112 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs201793747 rs201793747 1 1538 10 1/0 0,197,255 +rs201793747 2 133014614 C T - MIR663B 35270 MicroRNA 663b NR_031608.1 -1 115 0 substitution exon GRCh37 133014614 133014614 Chr2(GRCh37):g.133014614C>T 40 40 NR_031608.1:n.40G>A 1 rs201793747 yes no Frequency 1 0.000000 0 0.000777 0.000665 0.000059 0.000101 0.000000 0.000000 0.001334 0.000737 0.001633 0.001334 200 15 2 1 0 0 160 12 10 257472 22552 33884 9858 18554 30238 119982 16282 6122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 200 15 2 1 0 0 160 12 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.091 0.690 220 PASS . . . . . . . . . . . . . . . . 0.21138212 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 246.0 . . . . . . . . . . -0.1092 . . . . . . . . 8.090e-04 . . . 0.0002 0.0008 0.0003 0 0.0006 0.0008 0 0.0018 0.0003 0.0005 0.0003 0 0.0005 0.0003 0 0.0018 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.36 182 ENSG00000221288 MIR663B MIR663B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201793747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 3.023e-05 0.0001 0 7.607e-05 0.0009 0 0 0.0018 0.0035 0.0012 0 0 0.0035 0.0047 0.0112 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs201793747 rs201793747 1 1538 10 1/0 0,197,255 +rs201429060 2 133014633 T C - ANKRD30BL 35167 Ankyrin repeat domain 30B-like NR_027019.1 -1 1727 0 substitution upstream GRCh37 133014633 133014633 Chr2(GRCh37):g.133014633T>C -95108 -95108 NR_027019.1:n.-95108A>G p.? p.? 1 -95573 5' 68.1351 6.42714 0.907556 XI.86 68.1351 6.42714 0.907556 XI.86 0 rs201429060 yes no Frequency 1 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000166 0.000000 0.000166 6 0 0 0 0 0 4 2 0 220430 13460 32224 9412 16394 29974 101854 12062 5050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 4 2 0 0 0 0 0 0 0 0 0 0 RF 70 Exomes transition A G A>G 0.039 -0.117 177 PASS . . . . . . . . . . . . . . . . 0.107569724 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 251.0 . . . . . . . . . . 0.0394 . . . . . . . . 1.004e-03 . . . 0.0007 0.0008 0.0012 0.0010 0.0012 0.0007 0 0.0004 0.0008 0.0009 0.0012 0.0015 0.0011 0.0009 0.0016 0.0004 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.66 0.35 182 ENSG00000221288 MIR663B MIR663B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201429060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.722e-05 0 0 0 0.0002 3.927e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs201429060 rs201429060 1 1538 10 1/0 0,187,255 +rs201429060 2 133014633 T C - MIR663B 35270 MicroRNA 663b NR_031608.1 -1 115 0 substitution exon GRCh37 133014633 133014633 Chr2(GRCh37):g.133014633T>C 21 21 NR_031608.1:n.21A>G 1 rs201429060 yes no Frequency 1 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000166 0.000000 0.000166 6 0 0 0 0 0 4 2 0 220430 13460 32224 9412 16394 29974 101854 12062 5050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 4 2 0 0 0 0 0 0 0 0 0 0 RF 70 Exomes transition A G A>G 0.039 -0.117 177 PASS . . . . . . . . . . . . . . . . 0.107569724 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 251.0 . . . . . . . . . . 0.0394 . . . . . . . . 1.004e-03 . . . 0.0007 0.0008 0.0012 0.0010 0.0012 0.0007 0 0.0004 0.0008 0.0009 0.0012 0.0015 0.0011 0.0009 0.0016 0.0004 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.66 0.35 182 ENSG00000221288 MIR663B MIR663B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201429060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.722e-05 0 0 0 0.0002 3.927e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs201429060 rs201429060 1 1538 10 1/0 0,187,255 +rs7355688 2 133074851 A T - ZNF806 33228 Zinc finger protein 806 NM_001304449.1 1 1867 1770 NP_001291378.1 P0C7X5 substitution synonymous exon GRCh37 133074851 133074851 Chr2(GRCh37):g.133074851A>T 312 312 NM_001304449.1:c.312A>T p.Val104= p.Val104Val 4 170 3' 75.7473 3.18978 0.002053 0 75.7473 3.18978 0.002053 0 0 Cryptic Acceptor Strongly Activated 133074865 1.76038 0.002363 72.6061 3.13606 0.015399 75.7217 rs7355688 yes no Frequency 1 0.000000 0 transversion A T A>T 0.000 -0.844 V Val GTA 0.114 V Val GTT 0.178 104 255 PASS . . . . . . . . . . . . . ZNF806:NM_001304449:exon4:c.A312T:p.V104V . . 0.5652174 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtA/gtT|V104|ZNF806|mRNA|CODING|NM_001304449|NM_001304449.ex.4) . . . . . . . -0.5153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . ncRNA_exonic ncRNA_intronic exonic . . . @ . . . 0.57 0.4 182 ENSG00000018607 AK094599 ZNF806 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7355688 0.489 0.486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.49 rs7355688 rs7355688 rs7355688 rs7355688 1 1538 10 1/0 0,255,255 +rs7355689 2 133074876 A G - ZNF806 33228 Zinc finger protein 806 NM_001304449.1 1 1867 1770 NP_001291378.1 P0C7X5 substitution missense exon GRCh37 133074876 133074876 Chr2(GRCh37):g.133074876A>G 337 337 NM_001304449.1:c.337A>G p.Met113Val p.Met113Val 4 195 3' 75.7473 3.18978 0.002053 0 75.7473 3.18978 0.002053 0 0 Cryptic Acceptor Weakly Activated 133074888 3.14673 0.709134 82.0912 III.76 0.747814 82.0912 rs7355689 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.279 M Met ATG 1.000 V Val GTG 0.468 113 1 1 1 0 0 5.VII 5.IX 105 84 21 255 PASS . . . . . . . . . . . . . ZNF806:NM_001304449:exon4:c.A337G:p.M113V . . 0.57894737 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M113V|ZNF806|mRNA|CODING|NM_001304449|NM_001304449.ex.4) . . . . . . . -0.3230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . ncRNA_exonic ncRNA_intronic exonic . . . @ . . . 0.54 0.36 182 ENSG00000018607 AK094599 ZNF806 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7355689 0.467 0.471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 rs7355689 rs7355689 rs7355689 rs7355689 1 1538 10 1/0 0,255,255 +rs199974637 2 139308397 T C - SPOPL 27934 Speckle-type POZ protein-like NM_001001664.2 1 5734 1179 NP_001001664.1 Q6IQ16 substitution intron GRCh37 139308397 139308397 Chr2(GRCh37):g.139308397T>C 201-76 201-76 NM_001001664.2:c.201-76T>C p.? p.? 4 3 -76 3' 92.9765 9.93437 0.99059 3.74718 92.9765 9.93437 0.99059 3.59215 0 rs199974637 no no 0 T 0.000000 0 transition T C T>C 0.071 -0.521 222 PASS . . . . . . . . . . . . . . . . 0.22580644 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||SPOPL|mRNA|CODING|NM_001001664|) . . . . . . . -0.2795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.17 182 ENSG00000144228 SPOPL SPOPL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199974637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs199974637 rs199974637 1 1538 10 1/0 0,255,255 +. 2 149246907 T TT - MBD5 20444 Methyl-CpG binding domain protein 5 NM_018328.4 1 6018 4485 NP_060798.2 Q9P267 duplication intron GRCh37 149246907 149246908 Chr2(GRCh37):g.149246907dup 3055-48 3055-48 NM_018328.4:c.3055-48dup p.? p.? 12 11 611472 -47 3' 86.5466 8.48833 0.971127 XI.83 86.5466 8.48833 0.971127 XI.18 0 149246909 -11.5642 rs111476224 yes no Frequency/1000G 2 0.000000 0 0.124401 0.164100 0.119600 0.173600 0.076500 0.053300 0.089069 0.144859 0.041725 0.051888 0.173725 0.108838 0.076519 0.090673 0.088702 0.173725 24420 3463 1432 525 3257 3335 9536 2302 570 274170 23906 34320 10118 18748 30642 124622 25388 6426 0.009345 0.020832 0.002214 0.003360 0.030723 0.011749 0.005874 0.009059 0.008715 1281 249 38 17 288 180 366 115 28 21858 2965 1356 491 2681 2975 8804 2072 514 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7686 3634 11320 568 632 1200 0.0688151 0.148148 0.0958466 0.0688151 0.148148 0.0958466 26 T 255 Pass . . . . . . . . . . . . . . . . 0.5 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . INTRON(MODIFIER||||MBD5|mRNA|CODING|NM_018328|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000204406 MBD5 MBD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.130 0.174 . . . . . . . . . . . . . . . . . . . . Name\x3desv2751831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.13 . . . . 1 1538 10 1.I 0,12,30 +. 2 152441905 G C - NEB 7720 Nebulin NM_001271208.1 -1 26307 25683 NP_001258137.1 substitution intron GRCh37 152441905 152441905 Chr2(GRCh37):g.152441905G>C 15663+116 15663+116 NM_001271208.1:c.15663+116C>G p.? p.? 100 100 161650 116 5' 80.3814 9.40305 0.934872 4.86089 80.3814 9.40305 0.934872 4.86089 0 transversion C G C>G 0.000 0.125 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.0283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.36 182 ENSG00000183091 NEB NEB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs4664487 rs4664487 rs4664487 rs4664487 1 1538 255 1.I 0,0,255 +rs140039820 2 152452458 G C - NEB 7720 Nebulin NM_001271208.1 -1 26307 25683 NP_001258137.1 substitution intron GRCh37 152452458 152452458 Chr2(GRCh37):g.152452458G>C 14205+116 14205+116 NM_001271208.1:c.14205+116C>G p.? p.? 92 92 161650 116 5' 80.3814 9.40305 0.934872 4.86089 80.3814 9.40305 0.934872 4.86089 0 rs140039820 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13508 Genomes transversion C G C>G 0.008 0.367 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.2509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.24 182 ENSG00000183091 NEB NEB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs140039820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.25 . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs4664487 rs4664487 rs4664487 rs140039820 1 1538 255 1.I 0,0,255 +rs112260335 2 152459090 T C - NEB 7720 Nebulin NM_001271208.1 -1 26307 25683 NP_001258137.1 substitution intron GRCh37 152459090 152459090 Chr2(GRCh37):g.152459090T>C 13368+11 13368+11 NM_001271208.1:c.13368+11A>G p.? p.? 87 87 161650 11 5' 81.7494 5.55419 0.939544 2.77594 81.7494 5.55419 0.939544 2.94779 0 rs112260335 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 4 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes RCV000215253.3 germline|germline|germline clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity 1 not specified transition A G A>G 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.6119403 . . germline 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Conflicting//\@interpretations//\@of//\@pathogenicity other RCV000215253.2 not_specified MedGen CN169374 2 . . . 67.0 . . . . . . . . . . -0.0238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.31 182 ENSG00000183091 NEB NEB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112260335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . 0 . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71415152 rs71415152 rs112260335 1 1538 10 1/0 0,255,255 +. 2 157406211 C A - GPD2 4456 Glycerol-3-phosphate dehydrogenase 2 (mitochondrial) NM_001083112.2 1 6029 2184 NP_001076581.2 P43304 substitution missense exon GRCh37 157406211 157406211 Chr2(GRCh37):g.157406211C>A 753 753 NM_001083112.2:c.753C>A p.Ser251Arg p.Ser251Arg 7 138430 -74 5' 84.0478 9.36876 0.973562 8.58247 84.0478 9.36876 0.973562 8.61307 0 FAD dependent oxidoreductase transversion C A C>A 0.992 0.609 S Ser AGC 0.243 R Arg AGA 0.205 251 12 6 Dog -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 148.39 0.00 Tolerated 0.82 III.33 good 9.281E-1 0.1078 255 PASS . . . . . . . . . . . . . . . . 0.5026738 . . @ 94 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.229 . @ . . . . . 1 0.291 . . 187.0 . . . . . . . . . . -0.2991 -0.145 -0.299 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.629 . . exonic exonic exonic . . 0.312 @ . . . . . . ENSG00000115159 GPD2 GPD2 . . . 0.183 0.179 . . . . . . . Uncertain_significance . 0 . 0.419 . . . . T 0.252 0.010 . . 37 . 0.487 . . 0.314 . . . 0.251 0.254 . . . . 1 1 0 0 0 0 0 1 0 0 0 0.360 . . 0 0 0 0 0 0 . 0.067 . . 0.104 . . . . . . 0 0.107 . . . . . 0.364 . 0.159 . HET 0.42 . . . . . . . . . . . . . IX.49 . . V.91 II.74 . 0.500000 P43304 . . . . . 0.434 . . II.74 . . . . . . . . . . . . . . . . . . . 0.609 . 0.846 0.846000 . . 0.500000 . . 1.0E-255 0.988 0.363 . 0.888 0.996 . 0.209 . 0.490 0.846 0.033 . . . . . 1 1538 10 1/0 0,234,253 +. 2 159523130 GAA G - PKP4 9026 Plakophilin 4 NM_003628.4 1 4675 3579 NP_003619.2 Q99569 deletion intron GRCh37 159523132 159523133 Chr2(GRCh37):g.159523132_159523133del 2728+57 2728+58 NM_003628.4:c.2728+57_2728+58del p.? p.? 16 16 604276 57 5' 85.6983 7.76066 0.973778 0 85.6983 7.76066 0.973778 0 0 rs370011978 yes no Frequency/1000G 2 0.000000 0 0.004792 0.000800 0.014300 0.000000 0.006000 0.004300 0.005491 0.000421 0.003190 0.037631 0.000212 0.013623 0.004887 0.001258 0.007301 0.037631 1204 9 65 265 3 270 527 30 35 219280 21388 20378 7042 14158 19820 107848 23852 4794 0.000109 0.000000 0.000000 0.001988 0.000000 0.000303 0.000019 0.000000 0.000417 12 0 0 7 0 3 1 0 1 1180 9 65 251 3 264 525 30 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AA 255 Pass . . . . . 0.0008 0.0048 0.0043 . 0.006 0.014 . . . . . 0.41025642 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . . . . . . . . . . . . . . 5.685e-03 . . . 0.0009 0.0065 0.0030 0 0.0016 0.0077 0.0103 0.0135 0.0007 0.0056 0.0030 0.0003 0.0017 0.0062 0.0076 0.0135 . . . . . . ncRNA_intronic ncRNA_intronic UTR3 . . . . . . . . . . ENSG00000204380 AK126351 PKP4 . . NM_001304971:c.*42_*43delAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370011978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0058 0.0032 0.0371 0.0002 0.0012 0.0048 0.0081 0.0136 0.0003 0.0036 0.0036 0.0497 0.0006 0.0017 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370011978 rs370011978 1 1538 10 1.I 0,12,39 +. 2 159523130 GAA G - PKP4-AS1 52580 PKP4 antisense RNA 1 NR_135242.1 -1 4067 0 deletion intron GRCh37 159523131 159523132 Chr2(GRCh37):g.159523131_159523132del 420-539 420-538 NR_135242.1:n.420-539_420-538del p.? p.? 3 2 -538 3' 93.0673 10.0526 0.982728 V.72 93.0673 10.0526 0.982728 V.72 0 rs370011978 yes no Frequency/1000G 2 0.000000 0 0.004792 0.000800 0.014300 0.000000 0.006000 0.004300 0.005491 0.000421 0.003190 0.037631 0.000212 0.013623 0.004887 0.001258 0.007301 0.037631 1204 9 65 265 3 270 527 30 35 219280 21388 20378 7042 14158 19820 107848 23852 4794 0.000109 0.000000 0.000000 0.001988 0.000000 0.000303 0.000019 0.000000 0.000417 12 0 0 7 0 3 1 0 1 1180 9 65 251 3 264 525 30 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TT 255 Pass . . . . . 0.0008 0.0048 0.0043 . 0.006 0.014 . . . . . 0.41025642 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . . . . . . . . . . . . . . 5.685e-03 . . . 0.0009 0.0065 0.0030 0 0.0016 0.0077 0.0103 0.0135 0.0007 0.0056 0.0030 0.0003 0.0017 0.0062 0.0076 0.0135 . . . . . . ncRNA_intronic ncRNA_intronic UTR3 . . . . . . . . . . ENSG00000204380 AK126351 PKP4 . . NM_001304971:c.*42_*43delAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370011978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0058 0.0032 0.0371 0.0002 0.0012 0.0048 0.0081 0.0136 0.0003 0.0036 0.0036 0.0497 0.0006 0.0017 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370011978 rs370011978 1 1538 10 1.I 0,12,39 +rs61748244 2 165358792 G A - GRB14 4565 Growth factor receptor-bound protein 14 NM_004490.2 -1 2387 1623 NP_004481.2 Q14449 substitution synonymous exon GRCh37 165358792 165358792 Chr2(GRCh37):g.165358792G>A 1077 1077 NM_004490.2:c.1077C>T p.Gly359= p.Gly359Gly 9 601524 -28 5' 86.1635 9.33191 0.997089 0 86.1635 9.33191 0.997089 0 0 rs61748244 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.002000 0.000000 0.003000 0.001400 0.004952 0.001499 0.002183 0.001283 0.000000 0.003152 0.008062 0.003881 0.004817 0.008062 1369 36 75 13 0 97 1017 100 31 276454 24010 34360 10136 18830 30774 126142 25766 6436 0.000058 0.000000 0.000000 0.000000 0.000000 0.000065 0.000111 0.000000 0.000000 8 0 0 0 0 1 7 0 0 1353 36 75 13 0 95 1003 100 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4400 12926 74 6 80 0.00860465 0.00136178 0.00615101 0.00860465 0.00136178 0.00615101 92 transition C T C>T 0.992 0.044 G Gly GGC 0.342 G Gly GGT 0.162 359 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0012 0.0014 . 0.003 0.002 . . . . . 0.41463414 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0014 0.0062 0.0086 0.0014 0.0062 0.0086 . I.77 . . . . . . . . 4.941e-03 . . . 0.0016 0.0046 0.0014 0 0.0051 0.0075 0.0028 0.0027 0.0014 0.0049 0.0014 0 0.0049 0.0076 0.0014 0.0027 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.34 0.27 182 ENSG00000115290 GRB14 GRB14 . . . . . . 366 0.00563285 64976 360 0.0060014 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61748244 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv875365 0.006151 . . . . . 0.0012 0.0049 0.0022 0.0011 0 0.0035 0.0080 0.0049 0.0032 0.0021 0.0056 0.0024 0.0066 0 0.0060 0.0083 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs61748244 rs61748244 rs61748244 rs61748244 1 1538 10 1/0 0,255,255 +rs146978168 2 166618535 C G - GALNT3 4125 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) NM_004482.3 -1 3267 1902 NP_004473.2 Q14435 substitution missense exon GRCh37 166618535 166618535 Chr2(GRCh37):g.166618535C>G 718 718 NM_004482.3:c.718G>C p.Val240Leu p.Val240Leu 4 601756 30 3' 96.0891 X.49 0.994566 6.32634 96.0891 X.49 0.994566 6.13706 0 Glycosyl transferase, family 2 rs146978168 yes no Frequency 1 C uncertain_significance 0.000000 0 0.000109 0.000000 0.000000 0.000000 0.000000 0.000000 0.000230 0.000039 0.000000 0.000230 30 0 0 0 0 0 29 1 0 276038 23972 34332 10114 18804 30750 125874 25756 6436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 29 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 60 RCV000304335.1 germline clinical testing VUS 1 Tumoral calcinosis, familial, hyperphosphatemic transversion G C G>C 0.992 0.367 V Val GTA 0.114 L Leu CTA 0.070 240 11 5 Frog 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 50.29 0.00 Tolerated 0.66 III.39 good 5.799E-1 0.03954 255 PASS . . . . . . . . . . . . . GALNT3:NM_004482:exon4:c.G718C:p.V240L . . 0.46666667 . . germline 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.229 . Uncertain//\@significance Uncertain_significance RCV000304335.1 . MedGen:OMIM:OMIM:Orphanet C1876187:211900:610233:ORPHA306661 1 0.244 . . 15.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Cta|V240L|GALNT3|mRNA|CODING|NM_004482|NM_004482.ex.4) . 0.0002 0.0003 . 0.0002 0.0003 . -0.5399 -0.416 -0.540 c . . . . . 1.105e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 7.992e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.585 . . exonic exonic exonic . . 0.221 @ . . . 0.41 0.24 182 ENSG00000115339 GALNT3 GALNT3 . . . 0.992 0.325 . 15 0.000230854 64976 15 0.000250058 59986 Uncertain_significance . 0 . 0.449 . . . . T 0.362 0.015 . . 37 . 0.438 . . 0.261 . . . 0.300 0.349 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.067 . . 0.139 . . . . . . 0 0.216 . . . . . 0.262 . 0.130 . HET 0.1 rs146978168 . . . . . . . . . . . . VII.74 0.0 . V.21 I.52 . 0.170000 Q14435 . . . 0.000231 . 0.322 . . . 0 0.0001 0 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0003 0.0002 0 . . 0.349 . 0.369 0.369000 . . 0.170000 . . 1.0E-255 0.731 0.287 . 0.366 0.997 . 0.188 . 0.211 0.369 0.021 0.0003 . . rs146978168 rs146978168 1 1538 10 1/0 0,255,255 +. 2 166929981 G T - SCN1A 10585 Sodium voltage-gated channel alpha subunit 1 AB093548.1 -1 6030 6030 BAC21101.1 P35498 substitution missense exon GRCh37 166929981 166929981 Chr2(GRCh37):g.166929981G>T 151 151 AB093548.1:c.151C>A p.Pro51Thr p.Pro51Thr 1 182389 -114 5' 83.1949 8.39958 0.809098 3.88228 83.1949 8.39958 0.809098 3.88228 0 transversion C A C>A 1.000 6.016 P Pro CCA 0.274 T Thr ACA 0.280 51 9 9 Zebrafish -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C35 0.00 37.56 Deleterious 0 IV.32 bad 4.552E-4 0.0002166 255 PASS . . . . . . . . . . . . . . . . 0.38235295 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.675 . @ . . . . . 1 0.918 . . 34.0 . . . . . . . . . . 1.0592 1.003 1.059 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.976 . . exonic exonic exonic . . 0.857 @ . . . . . . ENSG00000144285 SCN1A SCN1A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.969 0.638 . . 37 . 0.990 . . 0.994 . . . 0.971 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.945 . . 0 0 0 0 0 0 . 0.609 . . 0.627 . . . . . . 0 0.912 . . . . . 0.928 . 0.771 . HET 0 . . . . . . . . . . . . . 19.0118 . . V.62 V.62 . 0.000000 P35498-2 . . . . . 0.758 . . V.62 . . . . . . . . . . . . . . . . . . . 0.246 . 2.809 2.809000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.992 . 0.713 2.809 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs373750234 2 172803330 A G - HAT1 4821 Histone acetyltransferase 1 NM_003642.3 1 1670 1260 NP_003633.1 O14929 substitution intron GRCh37 172803330 172803330 Chr2(GRCh37):g.172803330A>G 188+27 188+27 NM_003642.3:c.188+27A>G p.? p.? 3 3 603053 27 5' 74.7752 8.81899 0.880497 0 74.7752 8.81899 0.880497 0 0 Cryptic Acceptor Strongly Activated 172803337 2.84792 0.000301 67.4166 3.71513 0.00043 67.1639 rs373750234 yes no Frequency 1 A 0.000000 0 0.000104 0.000000 0.000196 0.000000 0.000000 0.000000 0.000173 0.000000 0.000000 0.000196 19 0 3 0 0 0 16 0 0 183032 12320 15306 6816 11830 20248 92572 20404 3536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 3 0 0 0 16 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes 8572 4390 12962 2 0 2 0.000233263 0 0.000154273 0.000233263 0 0.000154273 39 transition A G A>G 0.008 0.690 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.6412 . . . . . . . . 7.903e-05 . . . 0 0.0001 8.718e-05 0 0 0.0002 0 0 0 7.66e-05 8.986e-05 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.67 0.63 182 ENSG00000128708 HAT1 HAT1 . . . . . . 108 0.00166215 64976 108 0.00180042 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373750234 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv4362n71 0.000154 . . . . III.63 0 0.0001 0.0002 0 0 0 0.0002 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs373750234 rs373750234 1 1538 10 1/0 0,0,0 +. 2 178494173 G GGGC - PDE11A 8773 Phosphodiesterase 11A NM_016953.3 -1 9278 2802 NP_058649.3 Q9HCR9 insertion in-frame exon GRCh37 178494173 178494174 Chr2(GRCh37):g.178494173_178494174insGGC 2763 2764 NM_016953.3:c.2763_2764insGCC p.Ser921_Pro922insAla p.Ser921_Pro922insAla 20 604961 117 3' 92.9765 XI.37 0.994905 XI.59 92.9765 XI.37 0.994905 XI.59 0 GCC 255 Pass . . . . . . . . . . . . . . . . 0.9047619 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000128655 PDE11A PDE11A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv819130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,4 +rs77477862 2 178879055 C T - PDE11A 8773 Phosphodiesterase 11A NM_016953.3 -1 9278 2802 NP_058649.3 Q9HCR9 substitution missense exon GRCh37 178879055 178879055 Chr2(GRCh37):g.178879055C>T 1045 1045 NM_016953.3:c.1045G>A p.Ala349Thr p.Ala349Thr 2 604961 -27 5' 82.2284 6.91262 0.771647 0 82.2284 6.91262 0.771647 0 0 Cryptic Acceptor Strongly Activated 178879039 0.0447392 0.001134 76.3013 0.36982 0.001503 76.3013 GAF rs77477862 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001719 0.000499 0.000436 0.002169 0.000000 0.001592 0.002871 0.000272 0.001240 0.002871 476 12 15 22 0 49 363 7 8 276854 24028 34418 10142 18832 30772 126436 25776 6450 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 472 12 15 22 0 49 359 7 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4404 12970 34 2 36 0.00395349 0.000453926 0.00276795 0.00395349 0.000453926 0.00276795 133 CM094019 Altered enzyme activity 19549888 FP transition G A G>A 1.000 3.192 A Ala GCT 0.263 T Thr ACT 0.243 349 11 8 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 244.53 0.00 Tolerated 0.3 III.51 bad 4.674E-3 0.005023 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 . . . . . 0.4716981 . . @ 25 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.405 . @ . . . . . 1 0.287 . . 53.0 . . . 0.0005 0.0028 0.004 0.0005 0.0028 0.004 . -0.2375 -0.003 -0.237 c . . . . . 1.657e-03 . . . 0.0005 0.0018 0.0004 0 0.0003 0.0031 0.0014 0.0012 0.0006 0.0016 0.0004 0 0.0002 0.0025 0.0014 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.679 . . exonic exonic exonic . . 0.566 0.0006 . . . 0.46 0.38 182 ENSG00000128655 PDE11A PDE11A . . . 0.139 0.172 . 140 0.00215464 64976 137 0.00228387 59986 Uncertain_significance . 0 . 0.280 . . . . T 0.288 0.011 . . 37 . 0.457 . . 0.352 . . . 0.084 0.444 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.150 . . 0 0 0 0 0 0 . 0.090 . . 0.127 . . . . . . 0 0.087 . . . . . 0.589 . 0.078 . HET 0.3 rs77477862 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 13.1775 5.35E-4 . 5.V IV.61 . 0.500000 . . . Name\x3dnsv875451 0.002768 . 0.616 . . IV.61 0.0004 0.0017 0.0004 0.0022 0 0.0003 0.0028 0.0013 0.0016 0.0007 0.0018 0 0 0 0.0003 0.0031 0.0010 . . 0.133 . 2.750 2.750000 . . 0.500000 . . 1.0E-255 1.000 0.715 . 0.653 0.997 . 0.516 . 0.403 2.750 0.871 0.004 . . rs77477862 rs77477862 1 1538 10 1/0 0,255,255 +rs146181116 2 179419792 G A - TTN 12403 Titin NM_001267550.2 -1 109224 107976 NP_001254479.2 substitution missense exon GRCh37 179419792 179419792 Chr2(GRCh37):g.179419792G>A 88394 88394 NM_001267550.2:c.88394C>T p.Ser29465Phe p.Ser29465Phe 331 188840 88 3' 99.4088 13.1515 0.987796 14.0982 99.4088 13.1515 0.987796 14.0982 0 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs146181116 yes no Frequency/1000G 2 G uncertain_significance,not_provided,benign,likely_benign 0.000000 0 0.001797 0.000000 0.001000 0.000000 0.007000 0.001400 0.003198 0.000625 0.001250 0.002173 0.000000 0.000195 0.004831 0.006321 0.004035 0.006321 883 15 43 22 0 6 608 163 26 276136 24004 34388 10122 18750 30778 125864 25786 6444 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 879 15 43 22 0 4 606 163 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8205 3726 11931 37 4 41 0.0044892 0.00107239 0.00342466 0.0044892 0.00107239 0.00342466 69 RCV000367586.1|RCV000319678.1|RCV000184933.1|RCV000354841.1|RCV000471049.1|RCV000040746.7|RCV000242549.1|RCV000297597.1|RCV000262196.1|RCV000266709.1 germline|germline|germline|germline|germline|unknown|germline|germline|germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|research|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing VUS|VUS|Not provided|VUS|Benign|Conflicting interpretations of pathogenicity|Likely benign|VUS|VUS|VUS 1|1|0|1|1|1|1|1|1|1 Distal myopathy Markesbery-Griggs type|Myopathy, early-onset, with fatal cardiomyopathy|not provided|Limb-Girdle Muscular Dystrophy, Recessive||not specified|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hereditary myopathy with early respiratory failure|Dilated Cardiomyopathy, Dominant transition C T C>T 1.000 3.434 S Ser TCT 0.185 F Phe TTT 0.454 29465 -2 -2 -4 I.42 0 9.II 5.II 32 132 155 255 PASS . 0.0032 . . 0.01 . 0.0018 0.0014 . 0.007 0.001 . . . . . 0.6 . . germline 27 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.433 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@not//\@provided//\%//\@Likely//\@benign//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance other|not_provided|Likely_benign|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000040746.6|RCV000184933.1|RCV000242549.1|RCV000262196.1|RCV000266709.1|RCV000297597.1|RCV000319678.1|RCV000354841.1|RCV000367586.1 . MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN221809|CN230736|C1863599:603689:ORPHA178464|CN239310|HP:0001639:C0007194:ORPHA217569|C2673677:611705:ORPHA289377|CN239352|C1838244:600334:ORPHA609 1 0.405 . . 45.0 . . . 0.0011 0.0034 0.0045 0.0011 0.0034 0.0045 . 0.6247 0.647 0.625 c . . . . . 2.834e-03 . . . 0.0004 0.0024 0.0014 0 0.0066 0.0040 0.0029 0.0002 0.0004 0.0025 0.0013 0 0.0064 0.0037 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.689 . . exonic exonic exonic . . 0.872 0.0018 . . . 0.64 0.48 182 ENSG00000155657 TTN TTN . . . 1.000 0.448 . 219 0.00337048 64976 210 0.00350082 59986 Likely_benign . 0 . . . . . . D 0.606 0.042 . . 37 . 0.675 . . 0.733 . . . 0.477 0.465 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.732 . . 0 0 0 0 1 0 . 0.604 . . 0.538 . . . . . . 3 0.065 . . . . . 0.979 . 0.460 . HET . rs146181116 . . . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000040746.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000040746.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . 0.003205128205128205 0.0 0.0 0.0 0.009234828496042216 20.1041 9.87E-4 . V.66 V.66 . 0.000000 . . . . 0.003425 . 0.549 . . V.66 0.0004 0.0030 0.0013 0.0022 0 0.0064 0.0044 0.0037 0.0002 0.0010 0.0049 0.0012 0 0 0.0057 0.0077 0.0061 . . 0.210 . 2.826 2.826000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.419 . 0.713 2.826 0.917 0.01 . . rs146181116 rs146181116 1 1538 10 1/0 0,255,255 +rs146181116 2 179419792 G A - TTN-AS1 44124 TTN antisense RNA 1 NR_038272.1 1 4592 0 substitution intron GRCh37 179419792 179419792 Chr2(GRCh37):g.179419792G>A 2043+12704 2043+12704 NR_038272.1:n.2043+12704G>A p.? p.? 7 7 12704 5' 82.5954 11.1124 0.991249 7.49404 82.5954 11.1124 0.991249 7.49404 0 rs146181116 yes no Frequency/1000G 2 G uncertain_significance,not_provided,benign,likely_benign 0.000000 0 0.001797 0.000000 0.001000 0.000000 0.007000 0.001400 0.003198 0.000625 0.001250 0.002173 0.000000 0.000195 0.004831 0.006321 0.004035 0.006321 883 15 43 22 0 6 608 163 26 276136 24004 34388 10122 18750 30778 125864 25786 6444 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 879 15 43 22 0 4 606 163 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8205 3726 11931 37 4 41 0.0044892 0.00107239 0.00342466 0.0044892 0.00107239 0.00342466 69 RCV000367586.1|RCV000471049.1|RCV000184933.1|RCV000354841.1|RCV000319678.1|RCV000040746.7|RCV000242549.1|RCV000297597.1|RCV000262196.1|RCV000266709.1 germline|germline|germline|germline|germline|unknown|germline|germline|germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|research|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing VUS|Benign|Not provided|VUS|VUS|Conflicting interpretations of pathogenicity|Likely benign|VUS|VUS|VUS 1|1|0|1|1|1|1|1|1|1 Distal myopathy Markesbery-Griggs type||not provided|Limb-Girdle Muscular Dystrophy, Recessive|Myopathy, early-onset, with fatal cardiomyopathy|not specified|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hereditary myopathy with early respiratory failure|Dilated Cardiomyopathy, Dominant transition G A G>A 1.000 3.434 255 PASS . 0.0032 . . 0.01 . 0.0018 0.0014 . 0.007 0.001 . . . . . 0.6 . . germline 27 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.433 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@not//\@provided//\%//\@Likely//\@benign//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance other|not_provided|Likely_benign|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000040746.6|RCV000184933.1|RCV000242549.1|RCV000262196.1|RCV000266709.1|RCV000297597.1|RCV000319678.1|RCV000354841.1|RCV000367586.1 . MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN221809|CN230736|C1863599:603689:ORPHA178464|CN239310|HP:0001639:C0007194:ORPHA217569|C2673677:611705:ORPHA289377|CN239352|C1838244:600334:ORPHA609 1 0.405 . . 45.0 . . . 0.0011 0.0034 0.0045 0.0011 0.0034 0.0045 . 0.6247 0.647 0.625 c . . . . . 2.834e-03 . . . 0.0004 0.0024 0.0014 0 0.0066 0.0040 0.0029 0.0002 0.0004 0.0025 0.0013 0 0.0064 0.0037 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.689 . . exonic exonic exonic . . 0.872 0.0018 . . . 0.64 0.48 182 ENSG00000155657 TTN TTN . . . 1.000 0.448 . 219 0.00337048 64976 210 0.00350082 59986 Likely_benign . 0 . . . . . . D 0.606 0.042 . . 37 . 0.675 . . 0.733 . . . 0.477 0.465 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.732 . . 0 0 0 0 1 0 . 0.604 . . 0.538 . . . . . . 3 0.065 . . . . . 0.979 . 0.460 . HET . rs146181116 . . . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000040746.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000040746.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . 0.003205128205128205 0.0 0.0 0.0 0.009234828496042216 20.1041 9.87E-4 . V.66 V.66 . 0.000000 . . . . 0.003425 . 0.549 . . V.66 0.0004 0.0030 0.0013 0.0022 0 0.0064 0.0044 0.0037 0.0002 0.0010 0.0049 0.0012 0 0 0.0057 0.0077 0.0061 . . 0.210 . 2.826 2.826000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.419 . 0.713 2.826 0.917 0.01 . . rs146181116 rs146181116 1 1538 10 1/0 0,255,255 +rs372997298 2 179571644 C T - TTN 12403 Titin NM_001267550.2 -1 109224 107976 NP_001254479.2 substitution synonymous exon GRCh37 179571644 179571644 Chr2(GRCh37):g.179571644C>T 29079 29079 NM_001267550.2:c.29079G>A p.Ala9693= p.Ala9693Ala 101 188840 38 3' 83.2198 6.74558 0.089459 2.87282 83.2198 6.74558 0.089459 2.60455 0 Immunoglobulin-like domain Peptidase C2, calpain, large subunit, domain III Ribonuclease H-like domain Armadillo-type fold rs372997298 yes no Frequency 1 C benign 0.000000 0 0.000863 0.000000 0.000029 0.001691 0.000000 0.000199 0.001450 0.000819 0.001570 0.001691 236 0 1 17 0 6 181 21 10 273580 23836 34086 10056 18632 30104 124848 25648 6370 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 234 0 1 17 0 6 179 21 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8221 3722 11943 3 0 3 0.000364786 0 0.00025113 0.000364786 0 0.00025113 50 RCV000466578.1|RCV000125736.4 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Conflicting interpretations of pathogenicity 1|1 |not specified transition G A G>A 0.000 -1.570 A Ala GCG 0.107 A Ala GCA 0.226 9693 255 PASS . . . . . . . . . . . . . . . . 0.4 . . germline 24 . . 1.2.2016 0 0 0 0 1 0 1 1 0 0 0 0 . . . . . . . . Conflicting//\@interpretations//\@of//\@pathogenicity other RCV000125736.4 not_specified MedGen CN169374 2 . . . 60.0 . . . . 0.0003 0.0004 . 0.0003 0.0004 . 0.0062 . . . . . . . . 6.805e-04 . . . 0 0.0006 0 0 0.0010 0.0011 0.0017 0.0002 0 0.0006 0 0 0.0007 0.0011 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.24 182 ENSG00000155657 TTN TTN . . . . . . 27 0.000415538 64976 27 0.000450105 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs372997298 . . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000125736.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000125736.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . 0.000251 . . . . . 0 0.0006 3.008e-05 0.0016 0 0.0009 0.0010 0.0007 0.0002 0 0.0026 0 0.0033 0 0.0006 0.0047 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs372997298 rs372997298 1 1538 10 1/0 0,255,255 +rs112386296 2 185801470 G T - ZNF804A 21711 Zinc finger protein 804A NM_194250.1 1 4685 3630 NP_919226.1 Q7Z570 substitution synonymous exon GRCh37 185801470 185801470 Chr2(GRCh37):g.185801470G>T 1347 1347 NM_194250.1:c.1347G>T p.Thr449= p.Thr449Thr 4 612282 961 3' 82.4255 X.09 0.991026 9.23939 82.4255 X.09 0.991026 9.23939 0 rs112386296 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.003433 0.000749 0.001107 0.004252 0.000000 0.001008 0.005829 0.002677 0.002175 0.005829 950 18 38 43 0 31 737 69 14 276718 24026 34334 10112 18840 30766 126430 25772 6438 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 946 18 38 43 0 31 733 69 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4400 12944 54 6 60 0.00628053 0.00136178 0.00461396 0.00628053 0.00136178 0.00461396 100 transversion G T G>T 0.945 -0.440 T Thr ACG 0.116 T Thr ACT 0.243 449 255 PASS . 0.0023 . . 0.01 . 0.0014 . . 0.007 . ENSG00000170396:ENST00000302277:exon4:c.G1347T:p.T449T ZNF804A:uc002uph.3:exon4:c.G1347T:p.T449T ZNF804A:NM_194250:exon4:c.G1347T:p.T449T . . 0.453125 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 64.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acT|T449|ZNF804A|mRNA|CODING|NM_194250|NM_194250.ex.4) 0.0014 0.0046 0.0063 0.0014 0.0046 0.0063 . 0.9197 . . . . . . . . 3.662e-03 . . . 0.0010 0.0031 0.0010 0 0.0026 0.0055 0.0042 0.0011 0.0008 0.0034 0.0010 0 0.0021 0.0056 0.0029 0.0011 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.36 0.32 182 ENSG00000170396 ZNF804A ZNF804A . . . . . . 220 0.00338587 64976 213 0.00355083 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112386296 . . . . . . . . . . . . . . . . . . . . . . . 0.004614 . . . . . 0.0007 0.0034 0.0011 0.0043 0 0.0028 0.0058 0.0024 0.0010 0.0008 0.0035 0.0024 0.0033 0 0.0020 0.0060 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs112386296 rs112386296 1 1538 10 1/0 0,255,255 +. 2 187559048 C CAGCATC - FAM171B 29412 Family with sequence similarity 171, member B NM_177454.3 1 3557 2481 NP_803237.3 insertion in-frame exon GRCh37 187559049 187559050 Chr2(GRCh37):g.187559049_187559050insGCATCA 149 150 NM_177454.3:c.149_150insGCATCA p.Gln50_Gln51insHisGln p.Gln50_Gln51insHisGln 1 -89 5' 89.9194 X.02 0.997123 10.626 89.9194 X.02 0.997123 10.626 0 GCATCA 255 Pass . . . . . . . . . . . ENSG00000144369:ENST00000304698:exon1:c.148_149insAGCATC:p.Q50delinsQHQ . FAM171B:NM_177454:exon1:c.148_149insAGCATC:p.Q50delinsQHQ . . 0.41666666 . . . 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 120 . . CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||caa/cAGCATCaa|Q50QHQ|FAM171B|mRNA|CODING|NM_177454|NM_177454.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000144369 FAM171B FAM171B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1279e1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,38 +rs200449080 2 189872198 G A - COL3A1 2201 Collagen type III alpha 1 chain NM_000090.3 1 5490 4401 NP_000081.1 P02461 substitution intron GRCh37 189872198 189872198 Chr2(GRCh37):g.189872198G>A 3256-28 3256-28 NM_000090.3:c.3256-28G>A p.? p.? 45 44 120180 -28 3' 80.751 5.21261 0.320369 5.60885 80.751 5.21261 0.320369 5.84387 0 rs200449080 yes no Frequency/1000G 2 G benign 0.000000 0 0.001797 0.000000 0.005100 0.000000 0.004000 0.000000 0.005785 0.001468 0.002311 0.000416 0.001721 0.001255 0.009581 0.006913 0.006016 0.009581 1451 32 75 4 29 35 1071 169 36 250822 21800 32458 9614 16846 27894 111778 24448 5984 0.000056 0.000000 0.000000 0.000000 0.000000 0.000072 0.000089 0.000082 0.000000 7 0 0 0 0 1 5 1 0 1437 32 75 4 29 33 1061 167 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8541 4395 12936 57 7 64 0.00662945 0.00159019 0.00492308 0.00662945 0.00159019 0.00492308 25 RCV000249688.1 germline clinical testing Benign 1 not specified transition G A G>A 0.047 0.125 255 PASS . 0.0014 . . 0.004 . 0.0018 . . 0.004 0.0051 . . . . . 0.5 . . germline 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000249688.1 not_specified MedGen CN169374 2 . . . 20.0 . . INTRON(MODIFIER||||COL3A1|mRNA|CODING|NM_000090|) 0.0016 0.0049 0.0066 0.0016 0.0049 0.0066 . 0.2040 . . . . . . . . 5.695e-03 . . . 0.0026 0.0080 0.0040 0.0027 0.0238 0.0123 0.0084 0.0022 0.0030 0.0114 0.0039 0.0051 0.0166 0.0189 0.0032 0.0024 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.48 0.16 182 ENSG00000168542 COL3A1 COL3A1 . . . . . . 462 0.00711032 64976 453 0.00755176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200449080 . . . . . . . . . . . . . . . . . . . . . . . 0.004923 . . . . . 0.0010 0.0054 0.0023 0.0004 0.0018 0.0068 0.0090 0.0054 0.0013 0.0022 0.0084 0.0012 0 0.0006 0.0078 0.0136 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0066 . . rs200449080 rs200449080 1 1538 10 1/0 0,255,255 +rs113926079 (chr2:190788517 T/A) 2 190788517 T A Not on a known gene +. (chr2:190788685 G/T) 2 190788685 G T Not on a known gene +. (chr2:190788686 A/T) 2 190788686 A T Not on a known gene +. (chr2:190788691 A/G) 2 190788691 A G Not on a known gene +. (chr2:190788706 G/A) 2 190788706 G A Not on a known gene +rs773497697 2 191839634 T C - STAT1 11362 Signal transducer and activator of transcription 1, 91kDa NM_007315.3 -1 4308 2253 NP_009330.1 P42224 substitution synonymous exon GRCh37 191839634 191839634 Chr2(GRCh37):g.191839634T>C 2160 2160 NM_007315.3:c.2160A>G p.Thr720= p.Thr720Thr 24 600555 25 3' 78.4877 IX.15 0.976849 7.02014 78.4877 IX.15 0.976849 7.16252 0 Signal transducer and activation of transcription 1, TAZ2 binding domain, C-terminal rs773497697 yes no Frequency 1 T 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000036 4 0 0 0 0 0 4 0 0 246164 15304 33578 9842 17240 30780 111636 22300 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 131 Exomes transition A G A>G 0.787 -0.763 T Thr ACA 0.280 T Thr ACG 0.116 720 255 PASS . . . . . . . . . . . . . STAT1:NM_007315:exon24:c.A2160G:p.T720T . . 0.5263158 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . 1.1187 . . . . . . . . 3.157e-05 . . . 0 2.223e-05 0 0 0 4.772e-05 0 0 0 3.795e-05 0 0 0 7.394e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000115415 STAT1 STAT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs773497697 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834493 . . . . . . 0 1.625e-05 0 0 0 0 3.583e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs370177805 2 201806061 C G - ORC2 8488 Origin recognition complex, subunit 2 NM_006190.4 -1 3135 1734 NP_006181.1 Q13416 substitution intron GRCh37 201806061 201806061 Chr2(GRCh37):g.201806061C>G 422-59 422-59 NM_006190.4:c.422-59G>C p.? p.? 7 6 601182 -59 3' 87.6094 X.27 0.943333 5.60339 87.6094 X.27 0.943333 5.27441 0 rs370177805 yes no Frequency/1000G 2 C 0.000000 0 0.000583 0.000000 0.000000 0.000000 0.000000 0.000000 0.000668 0.002304 0.000000 0.002304 18 0 0 0 0 0 10 8 0 30896 8728 836 300 1620 0 14966 3472 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 0 0 0 0 0 10 8 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes 3180 1384 4564 2 0 2 0.000628536 0 0.00043802 0.000628536 0 0.00043802 95 transversion G C G>C 0.024 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . 0.3520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.49 0.07 182 ENSG00000115942 ORC2 ORC2 . . . . . . 8 0.000123122 64976 7 0.000116694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370177805 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv3109 0.000438 . . . . . . . . . . . . . . 0 0.0006 0 0 0 0.0023 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs370177805 rs370177805 1 1538 10 1/0 0,255,255 +rs74503544 2 201862152 T C - FAM126B 28593 Family with sequence similarity 126 member B NM_001321623.1 -1 9503 1761 NP_001308552.1 substitution intron GRCh37 201862152 201862152 Chr2(GRCh37):g.201862152T>C 626+16 626+16 NM_001321623.1:c.626+16A>G p.? p.? 8 8 16 5' 90.3087 9.21919 0.993396 0 90.3087 9.21919 0.993396 0 0 rs74503544 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.000800 0.003100 0.000000 0.006000 0.014400 0.005500 0.001210 0.005280 0.018035 0.000053 0.005621 0.006518 0.002679 0.009828 0.018035 1511 29 179 181 1 169 820 69 63 274744 23976 33904 10036 18786 30064 125814 25754 6410 0.000051 0.000000 0.000059 0.000199 0.000000 0.000000 0.000064 0.000000 0.000312 7 0 1 1 0 0 4 0 1 1497 29 177 179 1 169 812 69 61 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4404 12932 70 2 72 0.00814143 0.000453926 0.00553676 0.00814143 0.000453926 0.00553676 53 transition A G A>G 0.000 -0.521 255 PASS . 0.0037 0.01 . 0.01 0.0008 0.004 0.014 . 0.006 0.0031 . . . . . 0.516129 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||FAM126B|mRNA|CODING|NM_173822|) 0.0005 0.0055 0.0081 0.0005 0.0055 0.0081 . 0.2132 . . . . . . . . 5.210e-03 . . . 0.0007 0.0063 0.0050 0 0.0026 0.0095 0.0114 0.0054 0.0007 0.0051 0.0050 0 0.0026 0.0067 0.0102 0.0055 . . . . . . ncRNA_intronic UTR3 intronic . . . 0.0040 . . . 0.46 0.29 182 ENSG00000183308 FAM126B FAM126B . uc002uww.1:c.*12A>G . . . . 405 0.00623307 64976 385 0.00641816 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74503544 . . . . . . . . . . . . . . . . . . . . . . . 0.005537 . . . . . 0.0010 0.0057 0.0052 0.0179 5.826e-05 0.0027 0.0066 0.0111 0.0056 0.0016 0.0040 0.0072 0.0232 0 0.0026 0.0057 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs74503544 rs74503544 1 1538 10 1/0 0,255,255 +rs146158348 2 209179036 G A - PIKFYVE 23785 Phosphoinositide kinase, FYVE finger containing NM_015040.3 1 9901 6297 NP_055855.2 Q9Y2I7 substitution missense exon GRCh37 209179036 209179036 Chr2(GRCh37):g.209179036G>A 1715 1715 NM_015040.3:c.1715G>A p.Arg572Gln p.Arg572Gln 14 609414 19 3' 73.4002 6.36144 0.348916 0 73.4002 6.36144 0.40949 0 0.0578688 rs146158348 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.003000 0.000000 0.001505 0.000375 0.000552 0.000000 0.000000 0.000455 0.002529 0.001862 0.001084 0.002529 417 9 19 0 0 14 320 48 7 277020 24026 34416 10148 18862 30778 126552 25780 6458 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 415 9 19 0 0 14 318 48 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4404 12989 15 2 17 0.00174419 0.000453926 0.00130709 0.00174419 0.000453926 0.00130709 77 RCV000335905.1 germline clinical testing Likely benign 1 Fleck corneal dystrophy transition G A G>A 0.969 6.178 R Arg CGA 0.110 Q Gln CAA 0.256 572 1 1 1 0.65 0.89 10.V 10.V 124 85 43 255 PASS . 0.0005 . . 0.0013 . 0.0008 . . 0.003 0.001 . . PIKFYVE:NM_015040:exon14:c.G1715A:p.R572Q . . 0.61290324 . . germline 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.954 . Likely//\@benign Likely_benign RCV000335905.1 Fleck_corneal_dystrophy MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 1 0.998 . . 31.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R572Q|PIKFYVE|mRNA|CODING|NM_015040|NM_015040.ex.14) 0.0005 0.0013 0.0017 0.0005 0.0013 0.0017 . 0.6893 0.741 0.689 c . . . . . 1.523e-03 . . . 0.0004 0.0012 0.0005 0 0.0011 0.0021 0 0.0005 0.0004 0.0014 0.0004 0 0.0026 0.0022 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.307 . . exonic exonic exonic . . 0.849 0.0008 . . . 0.61 0.65 182 ENSG00000115020 PIKFYVE PIKFYVE . . . 1.000 0.747 . 91 0.00140052 64976 87 0.00145034 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.364 0.015 . . 37 . 0.429 . . 0.223 . . . 0.203 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.764 . . 0.725 . . . . . . 0 0.377 . . . . . 0.957 . 0.636 . HET 0.01 rs146158348 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 19.6264 5.35E-4 . 5.VI 5.VI . 0.230000 . . . Name\x3dnsv875752 0.001307 . 0.993 . . 5.VI 0.0003 0.0014 0.0005 0 0 0.0017 0.0023 0.0011 0.0005 0.0005 0.0024 0.0012 0 0 0.0026 0.0040 0.0010 . . 0.924 . 2.625 2.625000 . . 0.230000 . . 1.0E-255 1.000 0.715 . 0.426 0.895 . 0.980 . 0.551 2.625 0.917 0.0017 . . rs146158348 rs146158348 1 1538 10 1/0 0,255,255 +rs142693704 2 211469907 G T - CPS1 2323 Carbamoyl-phosphate synthase 1, mitochondrial NM_001122633.2 1 5725 4521 NP_001116105.1 substitution missense exon GRCh37 211469907 211469907 Chr2(GRCh37):g.211469907G>T 1936 1936 NM_001122633.2:c.1936G>T p.Ala646Ser p.Ala646Ser 18 608307 -64 5' 84.1408 9.87848 0.945123 4.18475 84.1408 9.87848 0.945123 3.60806 0 Carbamoyl-phosphate synthetase, large subunit, ATP-binding ATP-grasp fold, ATP-dependent carboxylate-amine ligase-type D-alanine--D-alanine ligase, C-terminal ATP-grasp fold rs142693704 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000333 0.000083 0.000088 0.000000 0.000000 0.000000 0.000649 0.000116 0.000311 0.000649 92 2 3 0 0 0 82 3 2 276400 24002 34284 10138 18766 30774 126254 25758 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 92 2 3 0 0 0 82 3 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 166 CM063936 Carbamoyl phosphate synthetase I deficiency 16737834 DM transversion G T G>T 1.000 1.658 A Ala GCT 0.263 S Ser TCT 0.185 646 12 9 Baker's yeast 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 239.36 17.80 Deleterious 0.03 III.58 good 3.609E-2 0.01331 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.45 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.348 . . 100.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . -0.2318 -0.037 -0.232 c . . . . . 4.578e-04 . . . 0 0.0004 0.0002 0 0 0.0008 0 0 0 0.0004 9.055e-05 0 0.0003 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.971 . . exonic exonic exonic . . 0.407 0.0002 . . . 0.43 0.27 182 ENSG00000021826 CPS1 CPS1 . . . 0.002 0.090 . 20 0.000307806 64976 19 0.000316741 59986 Uncertain_significance . 0 . 0.460 . . . . D 0.735 0.080 . . 37 . 0.923 . . 0.885 . . . 0.217 0.417 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.314 . . 0 0 0 0 0 0 . 0.067 . . 0.112 . . . . . . 0 0.248 . . . . . 0.799 . 0.670 . HET 0.07 rs142693704 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 15.9892 0.0 . V.69 III.64 . 0.160000 . . . . 0.000615 . 0.434 . . III.64 0 0.0003 8.97e-05 0 0 8.983e-05 0.0007 0.0004 0 0.0002 0.0002 0 0 0 0.0003 0.0003 0 . . 0.428 . 1.323 1.323000 . . 0.160000 . . 1.0E-255 1.000 0.715 . 0.888 0.969 . 0.456 . 0.713 1.323 -0.045 0.0013 . . rs142693704 rs142693704 1 1538 10 1/0 0,253,255 +. 2 219299817 AC A - VIL1 12690 Villin 1 NM_007127.2 1 2738 2484 NP_009058.2 P09327 deletion intron GRCh37 219299818 219299818 Chr2(GRCh37):g.219299818del 1681-194 1681-194 NM_007127.2:c.1681-194del p.? p.? 15 14 193040 -194 3' 92.1137 8.71883 0.995965 XII.28 92.1137 8.71883 0.995965 XII.28 0 C 255 Pass . . . . . . . . . . . . . . . . 0.64705884 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 17 . . INTRON(MODIFIER||||VIL1|mRNA|CODING|NM_007127|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000127831 VIL1 VIL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1009419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,19 +rs149531761 2 220044474 A G - CNPPD1 25220 Cyclin Pas1/PHO80 domain containing 1 NM_001321389.1 -1 2350 1233 NP_001308318.1 Q9BV87 substitution upstream GRCh37 220044474 220044474 Chr2(GRCh37):g.220044474A>G -2074 -2074 NM_001321389.1:c.-2074T>C p.? p.? 1 -2055 5' 82.5023 7.07454 0.235318 0 82.5023 7.07454 0.235318 0 0 rs149531761 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.002615 0.000167 0.000349 0.000000 0.000000 0.000000 0.002138 0.015975 0.004020 0.015975 725 4 12 0 0 0 271 412 26 277234 24024 34420 10152 18870 30782 126728 25790 6468 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000233 0.000000 3 0 0 0 0 0 0 3 0 719 4 12 0 0 0 271 406 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4403 12985 18 3 21 0.00209302 0.00068089 0.00161464 0.00209302 0.00068089 0.00161464 129 transition T C T>C 1.000 0.286 255 PASS . 0.0032 . . 0.01 . 0.0014 . . 0.007 . ENSG00000144567:ENST00000452293:exon2:c.A301G:p.T101A FAM134A:uc002vjw.4:exon3:c.A408G:p.P136P FAM134A:NM_024293:exon3:c.A408G:p.P136P . . 0.55737704 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . 0.0007 0.0016 0.0021 0.0007 0.0016 0.0021 . I.67 . . . . . . . . 2.415e-03 . . . 0.0003 0.0016 0.0002 0 0.0168 0.0017 0.0014 0 0.0003 0.0025 0.0002 0 0.0157 0.0028 0.0058 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.6 0.49 182 ENSG00000144567 FAM134A FAM134A . . . . . . 179 0.00275486 64976 172 0.00286734 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs149531761 . . . . . . . . . . . . . . . . . . . . . . . 0.001615 . . . . . 0.0003 0.0025 0.0003 0 0 0.0158 0.0022 0.0031 0 0 0.0032 0.0012 0 0 0.0169 0.0020 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149531761 rs149531761 1 1538 10 1/0 0,255,255 +rs149531761 2 220044474 A G - RETREG2 28450 Reticulophagy regulator family member 2 NM_024293.5 1 4641 1632 NP_077269.3 Q8NC44 substitution synonymous exon GRCh37 220044474 220044474 Chr2(GRCh37):g.220044474A>G 408 408 NM_024293.5:c.408A>G p.Pro136= p.Pro136Pro 3 -12 5' 95.6376 X.36 0.995357 X.45 95.6376 X.36 0.995357 11.052 0 Reticulon rs149531761 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.002615 0.000167 0.000349 0.000000 0.000000 0.000000 0.002138 0.015975 0.004020 0.015975 725 4 12 0 0 0 271 412 26 277234 24024 34420 10152 18870 30782 126728 25790 6468 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000233 0.000000 3 0 0 0 0 0 0 3 0 719 4 12 0 0 0 271 406 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4403 12985 18 3 21 0.00209302 0.00068089 0.00161464 0.00209302 0.00068089 0.00161464 129 transition A G A>G 1.000 0.286 P Pro CCA 0.274 P Pro CCG 0.115 136 255 PASS . 0.0032 . . 0.01 . 0.0014 . . 0.007 . ENSG00000144567:ENST00000452293:exon2:c.A301G:p.T101A FAM134A:uc002vjw.4:exon3:c.A408G:p.P136P FAM134A:NM_024293:exon3:c.A408G:p.P136P . . 0.55737704 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . 0.0007 0.0016 0.0021 0.0007 0.0016 0.0021 . I.67 . . . . . . . . 2.415e-03 . . . 0.0003 0.0016 0.0002 0 0.0168 0.0017 0.0014 0 0.0003 0.0025 0.0002 0 0.0157 0.0028 0.0058 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.6 0.49 182 ENSG00000144567 FAM134A FAM134A . . . . . . 179 0.00275486 64976 172 0.00286734 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs149531761 . . . . . . . . . . . . . . . . . . . . . . . 0.001615 . . . . . 0.0003 0.0025 0.0003 0 0 0.0158 0.0022 0.0031 0 0 0.0032 0.0012 0 0 0.0169 0.0020 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149531761 rs149531761 1 1538 10 1/0 0,255,255 +. 2 220082365 C CAA - ABCB6 47 ATP binding cassette subfamily B member 6 (Langereis blood group) NM_005689.3 -1 3045 2529 NP_005680.1 Q9NP58 duplication intron GRCh37 220082365 220082366 Chr2(GRCh37):g.220082366_220082367dup 687+25 687+26 NM_005689.3:c.687+25_687+26dup p.? p.? 2 2 605452 26 5' 71.2846 7.28962 0.867592 4.46193 71.2846 7.28962 0.867592 4.91567 0 Cryptic Acceptor Strongly Activated 220082361 I.22 0.685258 85.2671 1.66634 0.838765 85.2671 0.003429 0.012634 0.003277 0.005852 0.000657 0.005274 0.001412 0.000205 0.005189 0.012634 415 184 39 23 5 66 82 2 14 121044 14564 11900 3930 7616 12514 58058 9764 2698 0.000017 0.000137 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 71 12 2 1 1 23 28 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.30555555 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36 . . . . . . . . . . . . . . . . . . . . . . . 0.0143 0.0047 0.0033 0.0005 0 0.0025 0 0.0082 0.0146 0.0038 0.0031 0.0007 0.0002 0.0018 0.0022 0.0083 . . . . . . intronic intronic intronic . . . . . . . . . . . ABCB6 ABCB6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs370883149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0171 0.0036 0.0034 0.0062 0.0008 0.0002 0.0017 0.0064 0.0053 0.0086 0.0029 0.0018 0 0 0 0.0002 0.0015 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +. 2 220082365 C CAA - ATG9A 22408 Autophagy related 9A NM_001077198.2 -1 3822 2520 NP_001070666.1 Q7Z3C6 duplication downstream GRCh37 220082365 220082366 Chr2(GRCh37):g.220082366_220082367dup *2802 *2803 NM_001077198.2:c.*2802_*2803dup p.? p.? 16 612204 2809 3' 89.7903 12.917 0.996519 15.6091 89.7903 12.917 0.996519 15.6091 0 Cryptic Acceptor Strongly Activated 220082361 I.22 0.685258 85.2671 1.66634 0.838765 85.2671 0.003429 0.012634 0.003277 0.005852 0.000657 0.005274 0.001412 0.000205 0.005189 0.012634 415 184 39 23 5 66 82 2 14 121044 14564 11900 3930 7616 12514 58058 9764 2698 0.000017 0.000137 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 71 12 2 1 1 23 28 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.30555555 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36 . . . . . . . . . . . . . . . . . . . . . . . 0.0143 0.0047 0.0033 0.0005 0 0.0025 0 0.0082 0.0146 0.0038 0.0031 0.0007 0.0002 0.0018 0.0022 0.0083 . . . . . . intronic intronic intronic . . . . . . . . . . . ABCB6 ABCB6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs370883149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0171 0.0036 0.0034 0.0062 0.0008 0.0002 0.0017 0.0064 0.0053 0.0086 0.0029 0.0018 0 0 0 0.0002 0.0015 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +rs202141932 2 220421310 G A - OBSL1 29092 Obscurin-like 1 NM_015311.2 -1 6112 5691 NP_056126.1 substitution missense exon GRCh37 220421310 220421310 Chr2(GRCh37):g.220421310G>A 4202 4202 NM_015311.2:c.4202C>T p.Pro1401Leu p.Pro1401Leu 13 610991 -135 5' 82.0509 4.36432 0.786246 3.13097 82.0509 4.36432 0.786246 3.13097 0 Immunoglobulin I-set Immunoglobulin Immunoglobulin-like Immunoglobulin subtype rs202141932 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.001949 0.000042 0.000029 0.000296 0.000000 0.000000 0.001019 0.015120 0.002477 0.015120 540 1 1 3 0 0 129 390 16 277112 24014 34420 10146 18860 30782 126636 25794 6460 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 538 1 1 3 0 0 129 388 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8478 4240 12718 4 0 4 0.000471587 0 0.000314416 0.000471587 0 0.000314416 62 transition C T C>T 0.024 2.304 P Pro CCA 0.274 L Leu CTA 0.070 1401 12 9 Zebrafish -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 240.36 0.00 Tolerated 0.76 III.33 good 5.381E-1 0.2457 255 PASS . 0.0018 0.0028 . 0.004 . 0.0008 0.0014 . 0.003 . . . . . . 0.5051546 . . @ 147 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.312 . @ . . . . . 1 0.595 . . 291.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . -0.1710 -0.239 -0.171 c . . . . . 1.683e-03 . . . 0 0.0009 0.0002 0 0.0153 0.0005 0.0014 0 0 0.0018 0.0002 0 0.0150 0.0015 0.0058 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.677 . . exonic exonic exonic . . 0.515 0.0008 . . . 0.18 0.17 182 ENSG00000124006 OBSL1 OBSL1 . . . 1.000 0.489 . 132 0.00203152 64976 128 0.00213383 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.550 . . 0.498 . . . 0.482 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.757 . . 0 0 0 0 0 0 . 0.556 . . 0.630 . . . . . . 0 0.248 . . . . . 0.864 . 0.278 . HET 0.01 rs202141932 . . . . . . . 0.0018315018315018315 0.0 0.0027624309392265192 0.0 0.00395778364116095 17.0957 2.81E-4 ENST00000456147 IV.36 IV.36 . 0.170000 . . . . 0.000314 . 0.213 . . IV.36 0 0.0018 2.978e-05 0.0003 0 0.0149 0.0009 0.0016 0 0.0001 0.0028 0 0 0 0.0163 0.0015 0.0071 . . 0.413 . 2.266 2.266000 . . 0.170000 . . 1.0E-255 0.965 0.337 . 0.135 0.013 . 0.557 . 0.613 2.266 0.917 0.004 . . rs202141932 rs202141932 1 1538 10 1/0 0,215,234 +rs199991707 2 220432169 G A - OBSL1 29092 Obscurin-like 1 NM_015311.2 -1 6112 5691 NP_056126.1 substitution missense exon GRCh37 220432169 220432169 Chr2(GRCh37):g.220432169G>A 1663 1663 NM_015311.2:c.1663C>T p.Arg555Trp p.Arg555Trp 4 610991 129 3' 83.4413 8.79057 0.930684 5.21145 83.4413 8.79057 0.930684 5.21145 0 Fibronectin, type III rs199991707 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.001998 0.000084 0.000029 0.000297 0.000159 0.000000 0.001145 0.014897 0.002491 0.014897 550 2 1 3 3 0 144 381 16 275290 23720 34306 10092 18826 30568 125778 25576 6424 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 548 2 1 3 3 0 144 379 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8361 4086 12447 5 0 5 0.000597657 0 0.000401542 0.000597657 0 0.000401542 25 transition C T C>T 1.000 0.609 R Arg CGG 0.207 W Trp TGG 1.000 555 12 10 Zebrafish -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 253.50 46.86 Deleterious 0.01 III.33 bad 2.042E-3 0.003658 255 PASS . 0.0014 . . 0.004 . 0.0008 0.0014 . 0.003 . . . . . . 0.4054054 . . @ 30 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.915 . @ . . . . . 1 0.981 . . 74.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . 0.4916 0.389 0.492 c . . . . . 1.807e-03 . . . 0 0.0010 0.0002 0.0002 0.0164 0.0007 0.0015 0 0 0.0020 0.0002 0.0001 0.0158 0.0019 0.0062 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.618 . . exonic exonic exonic . . 0.340 0.0008 . . . 0.46 0.34 182 ENSG00000124006 OBSL1 OBSL1 . . . 0.997 0.348 . 132 0.00203152 64976 128 0.00213383 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.785 . . 0.801 . . . 0.901 0.489 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.899 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.784 . . . . . 0.521 . 0.697 . HET 0 rs199991707 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 XI.33 2.94E-4 . IV.92 3.IV . 0.030000 . . . . 0.000402 . 0.432 . . 3.IV 0 0.0019 2.988e-05 0.0003 0.0002 0.0147 0.0011 0.0017 0 0.0002 0.0029 0 0 0 0.0163 0.0015 0.0071 . . 0.522 . 0.613 0.613000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.409 . 0.713 0.613 0.917 0.004 . . rs199991707 rs199991707 1 1538 10 1/0 0,255,255 +rs181107871 2 220505285 G A - SLC4A3 11029 Solute carrier family 4 member 3 NM_001326559.1 1 4301 3780 NP_001313488.1 substitution synonymous exon GRCh37 220505285 220505285 Chr2(GRCh37):g.220505285G>A 3492 3492 NM_001326559.1:c.3492G>A p.Pro1164= p.Pro1164Pro 21 106195 -37 5' 84.5939 VIII.53 0.980394 X.76 84.5939 VIII.53 0.980394 X.86 0 New Acceptor Site 220505287 4.06312 0.045483 75.2731 rs181107871 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.002090 0.000042 0.000058 0.000296 0.000000 0.000000 0.001099 0.016292 0.002167 0.016292 579 1 2 3 0 0 139 420 14 276970 24024 34414 10150 18868 30778 126494 25780 6462 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 2 0 0 0 0 0 0 2 0 575 1 2 3 0 0 139 416 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 140 COSM6466999 Lung 0.000419 2388 transition G A G>A 0.079 -2.377 P Pro CCG 0.115 P Pro CCA 0.274 1164 255 PASS . 0.0014 . . 0.004 . 0.0008 0.0014 . 0.003 . . . . . . 0.4465409 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 159.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.0801 . . . . . . . . 1.792e-03 . . . 0 0.0010 8.648e-05 0 0.0145 0.0008 0.0028 0 0 0.0019 8.916e-05 0 0.0154 0.0017 0.0072 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.24 0.57 182 ENSG00000114923 SLC4A3 SLC4A3 . . . . . . 134 0.0020623 64976 130 0.00216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181107871 . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0 0.0019 5.957e-05 0.0003 0 0.0156 0.0010 0.0013 0 0.0001 0.0033 0 0 0 0.0206 0.0015 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs181107871 rs181107871 1 1538 10 1/0 0,237,255 +. 2 224640534 G A - AP1S3 18971 Adaptor-related protein complex 1, sigma 3 subunit NM_001039569.1 -1 4002 465 NP_001034658.1 substitution intron GRCh37 224640534 224640534 Chr2(GRCh37):g.224640534G>A 291+84 291+84 NM_001039569.1:c.291+84C>T p.? p.? 3 3 615781 84 5' 87.0783 8.62318 0.989303 6.40622 87.0783 8.62318 0.989303 6.40622 0 transition C T C>T 0.008 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.41463414 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.1132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000152056 AP1S3 AP1S3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs375704768 2 228996671 A G - SPHKAP 30619 SPHK1 interactor, AKAP domain containing NM_001142644.1 -1 6913 5103 NP_001136116.1 Q2M3C7 substitution intron GRCh37 228996671 228996671 Chr2(GRCh37):g.228996671A>G 138+25 138+25 NM_001142644.1:c.138+25T>C p.? p.? 2 2 611646 25 5' 81.2188 9.23916 0.59861 5.08317 81.2188 9.23916 0.59861 5.36726 0 rs375704768 yes no Frequency 1 A 0.000000 0 0.000547 0.000083 0.000088 0.000000 0.000000 0.000033 0.001104 0.000155 0.000311 0.001104 151 2 3 0 0 1 139 4 2 275908 24030 34282 10096 18816 30604 125890 25750 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 2 3 0 0 1 139 4 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4406 12991 15 0 15 0.00174419 0 0.00115331 0.00174419 0 0.00115331 64 transition T C T>C 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . 0.0012 0.0017 . 0.0012 0.0017 . 0.1262 . . . . . . . . 4.894e-04 . . . 9.636e-05 0.0005 0 0 0.0005 0.0009 0.0028 0 0 0.0004 0 0 0.0003 0.0008 0.0029 0 . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.28 182 ENSG00000153820 SPHKAP SPHKAP . . . . . . 38 0.000584831 64976 38 0.000633481 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375704768 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv875926 0.001153 . . . . . 6.538e-05 0.0006 8.97e-05 0 0 0.0002 0.0012 0.0004 3.268e-05 0.0001 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs375704768 rs375704768 1 1538 10 1/0 0,255,255 +rs371243645 2 230453214 G A - DNER 24456 Delta/notch-like EGF repeat containing NM_139072.3 -1 3272 2214 NP_620711.3 Q8NFT8 substitution intron GRCh37 230453214 230453214 Chr2(GRCh37):g.230453214G>A 586-10 586-10 NM_139072.3:c.586-10C>T p.? p.? 3 2 607299 -10 3' 93.2748 13.004 0.995154 XII.74 96.3513 13.0855 0.996343 XII.84 0.0134811 rs371243645 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000574 0.003054 0.000386 0.000450 0.000508 0.000211 0.000223 0.000070 0.001129 0.003054 86 49 6 2 5 3 16 1 4 149696 16046 15550 4444 9852 14204 71790 14268 3542 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.086 247 PASS . . . . . 0.003 0.0008 . . . . . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||DNER|mRNA|CODING|NM_139072|) . . . . . . . -0.5211 . . . . . . . . . . . . 0.0035 0.0005 0.0003 0 0 6.982e-05 0 0 0.0038 0.0004 0.0001 0 0 5.585e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0019 . . . . . . ENSG00000187957 DNER DNER . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371243645 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0.0044 0.0006 0.0004 0.0005 0.0006 8.401e-05 0.0002 0.0015 0.0002 0.0018 0.0006 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs371243645 rs371243645 1 1538 10 1/0 0,0,0 +rs745867476 2 231176314 G A - SP140 17133 SP140 nuclear body protein NM_007237.4 1 3250 2604 NP_009168.4 Q13342 substitution splice site GRCh37 231176314 231176314 Chr2(GRCh37):g.231176314G>A 2505+4 2505+4 NM_007237.4:c.2505+4G>A p.? p.? 26 26 608602 4 5' 89.6127 X.54 0.984221 9.03331 99.6933 X.84 0.997857 10.0767 0.0652222 Cryptic Donor Weakly Activated 231176310 X.54 0.984221 89.6127 X.84 0.997857 99.6933 rs745867476 yes no Frequency 1 0.000000 0 0.004338 0.002583 0.002394 0.016718 0.000183 0.008460 0.004685 0.003563 0.004507 0.016718 896 55 52 76 3 149 466 75 20 206550 21294 21718 4546 16416 17612 99476 21050 4438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 896 55 52 76 3 149 466 75 20 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.924 209 PASS . . . . . . . . . . . . . . . . 0.18367347 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.1456 . . . . . . . . 1.786e-03 . . . 0.0015 0.0018 0.0003 0 0 0.0015 0 0.0069 0.0016 0.0015 0.0003 0 0 0.0011 0 0.0070 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000079263 SP140 SP140 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs745867476 . . . . . . . . . . . . . . . . . . . . 0 0.02 . . . . . . . 0.0012 0.0041 0.0023 0.0174 6.726e-05 0.0027 0.0044 0.0044 0.0085 0.0051 0.0062 0.0055 0.0041 0.0013 0.0090 0.0071 0.0051 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 2 231861037 GCCTAGCCCTGAATCCACACCA G - SPATA3 17884 Spermatogenesis associated 3 NM_139073.3 1 870 579 NP_620712.2 delins in-frame exon GRCh37 231861037 231861058 Chr2(GRCh37):g.231861037_231861058delinsG 89 110 NM_139073.3:c.89_110delinsG p.Gln30_Pro37delinsArg p.Gln30_Pro37delinsArg 1 -192 5' 79.7784 8.06623 0.78921 4.56731 79.7784 8.06623 0.78921 4.56731 0 G AGCCTAGCCCTGAATCCACACC 255 Pass . . . . . . . . . . . ENSG00000173699:ENST00000440792:wholegene SPATA3:uc010zmd.2:exon1:c.90_110del:p.30_37del SPATA3:NM_139073:exon1:c.90_110del:p.30_37del . . 0.16049382 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000173699 SPATA3 SPATA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . 3.1072 . . III.63 1.II . 0.900000 . . . Name\x3dnsv875956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,79 +. 2 231861037 GCCTAGCCCTGAATCCACACCA G - SPATA3-AS1 28013 SPATA3 antisense RNA 1 (head to head) NR_033879.1 -1 3509 0 delins upstream GRCh37 231861037 231861058 Chr2(GRCh37):g.231861037_231861058delinsG -311 -290 NR_033879.1:n.-311_-290delinsC p.? p.? 1 -475 5' 77.2441 5.03136 0.334915 3.43391 77.2441 5.03136 0.334915 3.43391 0 C GGTGTGGATTCAGGGCTAGGCT 255 Pass . . . . . . . . . . . ENSG00000173699:ENST00000440792:wholegene SPATA3:uc010zmd.2:exon1:c.90_110del:p.30_37del SPATA3:NM_139073:exon1:c.90_110del:p.30_37del . . 0.16049382 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000173699 SPATA3 SPATA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . 3.1072 . . III.63 1.II . 0.900000 . . . Name\x3dnsv875956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,79 +rs13005918 2 231861044 C T - SPATA3 17884 Spermatogenesis associated 3 NM_139073.3 1 870 579 NP_620712.2 substitution synonymous exon GRCh37 231861044 231861044 Chr2(GRCh37):g.231861044C>T 96 96 NM_139073.3:c.96C>T p.Ser32= p.Ser32Ser 1 -206 5' 79.7784 8.06623 0.78921 4.56731 79.7784 8.06623 0.78921 4.56731 0 rs13005918 yes no Frequency/1000G 2 C 0.000000 0 0.476637 0.328300 0.459100 0.670600 0.517900 0.442400 0.000013 0.000127 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000127 2 1 0 0 0 0 1 0 0 151622 7890 23582 8216 10078 22662 58492 16740 3962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 170 Exomes 1544 909 2453 1638 475 2113 0.485229 0.343208 0.462768 0.514771 0.343208 0.462768 155 transition C T C>T 0.008 -0.037 S Ser AGC 0.243 S Ser AGT 0.149 32 179 PASS . . . . . 0.33 0.48 0.44 0.67 0.52 0.46 . SPATA3:uc010zmd.2:exon1:c.C96T:p.S32S SPATA3:NM_139073:exon1:c.C96T:p.S32S . . 0.14606741 . . @ 13 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . 0.34 0.46 0.51 0.34 0.46 0.51 . -0.0023 . . . . . . . . . . . . 0.0017 0.0006 0 0 0 0.0007 0 0 0.0023 0.0007 0 0 0 0.0011 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.4766 . . . 0.24 0.27 182 ENSG00000173699 SPATA3 SPATA3 . . . . . . 27737 0.426881 64976 25372 0.422965 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs13005918 0.185 0.210 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv875956 0.462768 . . . . . 0.0001 1.319e-05 0 0 0 0 1.71e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . 0.51 rs13005918 rs13005918 rs13005918 rs13005918 1 1538 10 1/0 0,252,255 +rs13005918 2 231861044 C T - SPATA3-AS1 28013 SPATA3 antisense RNA 1 (head to head) NR_033879.1 -1 3509 0 substitution upstream GRCh37 231861044 231861044 Chr2(GRCh37):g.231861044C>T -297 -297 NR_033879.1:n.-297G>A p.? p.? 1 -482 5' 77.2441 5.03136 0.334915 3.43391 77.2441 5.03136 0.334915 3.43391 0 rs13005918 yes no Frequency/1000G 2 C 0.000000 0 0.476637 0.328300 0.459100 0.670600 0.517900 0.442400 0.000013 0.000127 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000127 2 1 0 0 0 0 1 0 0 151622 7890 23582 8216 10078 22662 58492 16740 3962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 170 Exomes 1544 909 2453 1638 475 2113 0.485229 0.343208 0.462768 0.514771 0.343208 0.462768 155 transition G A G>A 0.008 -0.037 179 PASS . . . . . 0.33 0.48 0.44 0.67 0.52 0.46 . SPATA3:uc010zmd.2:exon1:c.C96T:p.S32S SPATA3:NM_139073:exon1:c.C96T:p.S32S . . 0.14606741 . . @ 13 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . 0.34 0.46 0.51 0.34 0.46 0.51 . -0.0023 . . . . . . . . . . . . 0.0017 0.0006 0 0 0 0.0007 0 0 0.0023 0.0007 0 0 0 0.0011 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.4766 . . . 0.24 0.27 182 ENSG00000173699 SPATA3 SPATA3 . . . . . . 27737 0.426881 64976 25372 0.422965 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs13005918 0.185 0.210 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv875956 0.462768 . . . . . 0.0001 1.319e-05 0 0 0 0 1.71e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . 0.51 rs13005918 rs13005918 rs13005918 rs13005918 1 1538 10 1/0 0,252,255 +. 2 231861110 A T - SPATA3 17884 Spermatogenesis associated 3 NM_139073.3 1 870 579 NP_620712.2 substitution synonymous exon GRCh37 231861110 231861110 Chr2(GRCh37):g.231861110A>T 162 162 NM_139073.3:c.162A>T p.Thr54= p.Thr54Thr 1 -140 5' 79.7784 8.06623 0.78921 4.56731 79.7784 8.06623 0.78921 4.56731 0 Cryptic Acceptor Strongly Activated 231861117 2.58708 0.009914 67.8783 5.46291 0.117572 72.8794 rs906910816 no no 0 A 0.000000 0 0.000013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 0.000034 2 0 0 0 0 0 2 0 0 153356 8004 23972 8280 10244 22822 59122 16912 4000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes transversion A T A>T 0.000 0.125 T Thr ACA 0.280 T Thr ACT 0.243 54 255 PASS . . . . . . . . . . . . SPATA3:uc010zmd.2:exon1:c.A162T:p.T54T SPATA3:NM_139073:exon1:c.A162T:p.T54T . . 0.38053098 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . . . . . . . -0.7411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000173699 SPATA3 SPATA3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . II.66 . ENST00000423134 III.91 0.821 . 0.000000 . . . . . . . . . . 0 1.304e-05 0 0 0 0 3.383e-05 0 0 . . . . . . . . . . . . 0.140 0.140000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.140 . . . . . . 1 1538 10 1/0 0,247,255 +. 2 231861110 A T - SPATA3-AS1 28013 SPATA3 antisense RNA 1 (head to head) NR_033879.1 -1 3509 0 substitution upstream GRCh37 231861110 231861110 Chr2(GRCh37):g.231861110A>T -363 -363 NR_033879.1:n.-363T>A p.? p.? 1 -548 5' 77.2441 5.03136 0.334915 3.43391 77.2441 5.03136 0.334915 3.43391 0 rs906910816 no no 0 A 0.000000 0 0.000013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 0.000034 2 0 0 0 0 0 2 0 0 153356 8004 23972 8280 10244 22822 59122 16912 4000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes transversion T A T>A 0.000 0.125 255 PASS . . . . . . . . . . . . SPATA3:uc010zmd.2:exon1:c.A162T:p.T54T SPATA3:NM_139073:exon1:c.A162T:p.T54T . . 0.38053098 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . . . . . . . -0.7411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000173699 SPATA3 SPATA3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . II.66 . ENST00000423134 III.91 0.821 . 0.000000 . . . . . . . . . . 0 1.304e-05 0 0 0 0 3.383e-05 0 0 . . . . . . . . . . . . 0.140 0.140000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.140 . . . . . . 1 1538 10 1/0 0,247,255 +. 2 232321585 T TG - NCL 7667 Nucleolin NM_005381.2 -1 2717 2133 NP_005372.2 P19338 insertion intron GRCh37 232321585 232321586 Chr2(GRCh37):g.232321585_232321586insG 1572-111 1572-110 NM_005381.2:c.1572-111_1572-110insC p.? p.? 11 10 164035 -110 3' 87.9223 8.68058 0.804788 1.94547 87.9223 8.68058 0.804788 1.94547 0 C 255 Pass . . . . . . . . . . . . . . . . 0.3888889 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000115053 NCL NCL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +. 2 232321585 T TG - SNORA75 32661 Small nucleolar RNA, H/ACA box 75 NR_002921.1 -1 137 0 insertion upstream GRCh37 232321585 232321586 Chr2(GRCh37):g.232321585_232321586insG -939 -938 NR_002921.1:n.-939_-938insC p.? p.? 1 C 255 Pass . . . . . . . . . . . . . . . . 0.3888889 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000115053 NCL NCL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +. 2 232321585 T TG - SNORD20 10143 Small nucleolar RNA, C/D box 20 NR_002908.1 -1 80 0 insertion upstream GRCh37 232321585 232321586 Chr2(GRCh37):g.232321585_232321586insG -352 -351 NR_002908.1:n.-352_-351insC p.? p.? 1 604012 C 255 Pass . . . . . . . . . . . . . . . . 0.3888889 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000115053 NCL NCL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +rs375429302 2 233625313 C T - GIGYF2 11960 GRB10 interacting GYF protein 2 NM_001103147.1 1 7947 3963 NP_001096617.1 substitution intron GRCh37 233625313 233625313 Chr2(GRCh37):g.233625313C>T 491+12 491+12 NM_001103147.1:c.491+12C>T p.? p.? 8 8 612003 12 5' 86.9973 9.00931 0.933249 2.83012 86.9973 9.00931 0.933249 2.40141 0 rs375429302 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.006100 0.000000 0.001000 0.004300 0.003297 0.000251 0.002715 0.016024 0.000000 0.010763 0.002173 0.000000 0.006877 0.016024 908 6 93 162 0 330 273 0 44 275416 23904 34250 10110 18718 30660 125636 25740 6398 0.000080 0.000000 0.000000 0.000000 0.000000 0.000587 0.000032 0.000000 0.000000 11 0 0 0 0 9 2 0 0 886 6 93 162 0 312 269 0 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4405 12985 20 1 21 0.00232558 0.000226963 0.00161464 0.00232558 0.000226963 0.00161464 108 transition C T C>T 0.000 0.609 255 PASS . . . . . . 0.002 0.0043 . 0.001 0.0061 . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0002 0.0016 0.0023 0.0002 0.0016 0.0023 . 0.5087 . . . . . . . . 3.252e-03 . . . 0.0004 0.0046 0.0016 0 0 0.0049 0.0093 0.0110 0.0006 0.0037 0.0015 0 0 0.0034 0.0094 0.0109 . . . . . . ncRNA_exonic intronic intronic . . . 0.0020 . . . 0.63 0.39 182 ENSG00000241409 GIGYF2 GIGYF2 . . . . . . 105 0.00161598 64976 95 0.0015837 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375429302 . . . . . . . . . . . . . . . . . . . . . . . 0.001615 . . . . . 0.0004 0.0036 0.0027 0.0160 0 0 0.0024 0.0076 0.0108 0 0.0008 0.0048 0.0166 0 0 0.0008 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0023 . . rs375429302 rs375429302 1 1538 10 1/0 0,255,255 +rs114498122 2 233671277 G T - GIGYF2 11960 GRB10 interacting GYF protein 2 NM_001103147.1 1 7947 3963 NP_001096617.1 substitution synonymous exon GRCh37 233671277 233671277 Chr2(GRCh37):g.233671277G>T 1779 1779 NM_001103147.1:c.1779G>T p.Ala593= p.Ala593Ala 17 612003 77 3' 78.7345 7.35005 0.815304 3.62872 78.7345 7.35005 0.815304 II.33 0 GYF rs114498122 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.006100 0.000000 0.005000 0.002900 0.004690 0.001165 0.002412 0.016154 0.000000 0.009616 0.005043 0.001512 0.007890 0.016154 1300 28 83 164 0 296 639 39 51 277212 24036 34416 10152 18868 30782 126702 25792 6464 0.000058 0.000000 0.000000 0.000000 0.000000 0.000390 0.000032 0.000000 0.000000 8 0 0 0 0 6 2 0 0 1284 28 83 164 0 284 635 39 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8556 4402 12958 44 4 48 0.00511628 0.000907853 0.0036906 0.00511628 0.000907853 0.0036906 190 transversion G T G>T 0.748 -0.844 A Ala GCG 0.107 A Ala GCT 0.263 593 255 PASS . 0.0009 . . 0.0026 . 0.0026 0.0029 . 0.005 0.0061 . . . . . 0.50980395 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 1 . . . 51.0 . . . 0.0009 0.0037 0.0051 0.0009 0.0037 0.0051 . 0.8691 . . . . . . . . 5.004e-03 . . . 0.0012 0.0054 0.0017 0 0.0018 0.0065 0.0070 0.0101 0.0012 0.0051 0.0017 0 0.0020 0.0060 0.0086 0.0102 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.47 0.1 182 ENSG00000204120 GIGYF2 GIGYF2 . . . . . . 214 0.00329352 64976 201 0.00335078 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114498122 . . . . . . . . . . . . . . . . . . . . . . . 0.003691 . . . . . 0.0010 0.0049 0.0024 0.0161 0 0.0014 0.0052 0.0084 0.0096 0.0014 0.0029 0.0036 0.0166 0 0.0023 0.0037 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0051 . . rs114498122 rs114498122 1 1538 10 1/0 0,255,255 +rs572793316 (chr2:240981795 A/G) 2 240981795 A G Not on a known gene +rs543314423 (chr2:240981823 A/G) 2 240981823 A G Not on a known gene +rs555279440 (chr2:240981851 A/G) 2 240981851 A G Not on a known gene +rs375330202 (chr2:240982019 A/G) 2 240982019 A G Not on a known gene +rs148163158 (chr2:240982047 A/G) 2 240982047 A G Not on a known gene +rs139834525 (chr2:240982075 A/G) 2 240982075 A G Not on a known gene +rs74344384 (chr2:240982103 A/G) 2 240982103 A G Not on a known gene +rs74754936 (chr2:240982142 A/G) 2 240982142 A G Not on a known gene +rs79314166 (chr2:240982144 T/C) 2 240982144 T C Not on a known gene +rs78953006 (chr2:240982171 A/C) 2 240982171 A C Not on a known gene +rs199947939 2 240985126 G A - OR6B3 15042 Olfactory receptor, family 6, subfamily B, member 3 NM_173351.1 -1 996 996 NP_775486.1 Q8NGW1 substitution missense exon GRCh37 240985126 240985126 Chr2(GRCh37):g.240985126G>A 364 364 NM_173351.1:c.364C>T p.Arg122Cys p.Arg122Cys 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs199947939 yes no Frequency 1 G 0.000000 0 0.000211 0.000473 0.000071 0.000000 0.000549 0.000196 0.000201 0.000090 0.000186 0.000549 46 9 2 0 8 5 19 2 1 217664 19032 28314 8292 14576 25518 94450 22100 5382 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 9 2 0 8 5 19 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM6382001 Thyroid 0.001339 747 transition C T C>T 1.000 3.272 R Arg CGC 0.190 C Cys TGC 0.552 122 10 10 Opossum -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C65 0.00 179.53 Deleterious 0 IV.32 bad 2.667E-5 0.0001143 226 PASS . . . . . . . . . . . ENSG00000178586:ENST00000319423:exon1:c.C364T:p.R122C OR6B3:uc010zoe.2:exon1:c.C364T:p.R122C OR6B3:NM_173351:exon1:c.C364T:p.R122C . . 0.23098591 . . @ 82 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.647 . @ . . . . . 1 0.860 . . 355.0 . . . . . . . . . . 0.1566 0.225 0.157 c . . . . . 1.450e-04 . . . 0 0.0003 0 0.0011 0 0.0003 0 0.0004 0 0.0003 0 0.0006 0 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.772 . . exonic exonic exonic . . 0.449 @ . . . 0.17 0.23 182 ENSG00000178586 OR6B3 OR6B3 . . . 0.945 0.276 . . . . . . . Uncertain_significance . 0 . 0.477 . . . . T 0.254 0.010 . . 37 . 0.767 . . 0.798 . . . 0.747 0.494 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.928 . . 0 0 0 0 0 0 . 0.285 . . 0.260 . . . . . . 0 0.574 . . . . . 0.659 . 0.603 . HET 0.01 rs199947939 . . . . . . . . . . . . 14.3266 . ENST00000319423 III.96 III.96 . 0.010000 Q8NGW1 . . . . . 0.643 . . III.96 0.0006 0.0002 7.276e-05 0 0.0006 5.367e-05 0.0002 0 0.0002 0.0004 0.0003 0 0 0 0.0003 0.0002 0.0010 . . 0.133 . 2.471 2.471000 . . 0.010000 . . 1.0000000000000001E-226 1.000 0.715 . 0.625 0.986 . 0.520 . 0.661 2.471 0.917 . rs10176036 rs10176036 rs10176036 rs10176036 1 1538 10 1/0 0,184,255 +rs12695020 2 241403957 G A - GPC1 4449 Glypican 1 NM_002081.2 1 3686 1677 NP_002072.2 P35052 substitution intron GRCh37 241403957 241403957 Chr2(GRCh37):g.241403957G>A 884-76 884-76 NM_002081.2:c.884-76G>A p.? p.? 5 4 600395 -76 3' 64.6328 4.38097 0.107269 1.60143 64.6328 4.38097 0.107269 1.54844 0 Cryptic Donor Strongly Activated 241403954 0.683908 0.009701 66.3571 4.76456 0.415852 70.7195 rs12695020 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.442292 0.501500 0.337400 0.312500 0.584500 0.459700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30748 8644 832 300 1608 0 14894 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transition G A G>A 0.000 -0.360 195 PASS . . . . . 0.5 0.44 0.46 0.31 0.58 0.34 . . . . . 0.1125 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 160.0 . . INTRON(MODIFIER||||GPC1|mRNA|CODING|NM_002081|) . . . . . . . 0.0258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4423 . . . 0.31 0.14 182 ENSG00000063660 GPC1 GPC1 . . . . . . 27478 0.422895 64976 26468 0.441236 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs12695020 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . 0.011 rs12695020 rs12695020 rs12695020 rs12695020 1 1538 10 1/0 0,235,255 +rs12695021 2 241403965 C T - GPC1 4449 Glypican 1 NM_002081.2 1 3686 1677 NP_002072.2 P35052 substitution intron GRCh37 241403965 241403965 Chr2(GRCh37):g.241403965C>T 884-68 884-68 NM_002081.2:c.884-68C>T p.? p.? 5 4 600395 -68 3' 64.6328 4.38097 0.107269 1.60143 64.6328 4.38097 0.107269 1.848 0 Cryptic Donor Strongly Activated 241403963 53.834 1.33289 0.00889 63.9347 rs12695021 yes no Frequency/1000G 2 C 0.000000 0 0.193490 0.304800 0.205500 0.031700 0.211700 0.172900 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30734 8642 832 300 1608 0 14886 3484 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 49 Genomes transition C T C>T 0.000 -0.521 193 PASS . . . . . 0.3 0.19 0.17 0.032 0.21 0.21 . . . . . 0.11046512 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . INTRON(MODIFIER||||GPC1|mRNA|CODING|NM_002081|) . . . . . . . -0.5429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1935 . . . 0.33 0.16 182 ENSG00000063660 GPC1 GPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs12695021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.254e-05 0 0 0 0 6.718e-05 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs12695021 rs12695021 rs12695021 rs12695021 1 1538 10 1/0 0,230,255 +. 2 241403969 T TCC - GPC1 4449 Glypican 1 NM_002081.2 1 3686 1677 NP_002072.2 P35052 insertion intron GRCh37 241403969 241403970 Chr2(GRCh37):g.241403969_241403970insCC 884-64 884-63 NM_002081.2:c.884-64_884-63insCC p.? p.? 5 4 600395 -63 3' 64.6328 4.38097 0.107269 1.60143 64.6328 4.38097 0.107269 1.16417 0 rs111613058 no no 0 0.000000 0 CC 255 Pass . . . . . . . . . . . . . . . . 0.10169491 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 177 . . INTRON(MODIFIER||||GPC1|mRNA|CODING|NM_002081|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000063660 GPC1 GPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111613058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111613058 rs111613058 1 1538 10 1.I 0,4,99 +. 2 241618976 G T - AQP12B 6096 Aquaporin 12B NM_001102467.1 -1 1114 924 NP_001095937.1 substitution intron GRCh37 241618976 241618976 Chr2(GRCh37):g.241618976G>T 724+793 724+793 NM_001102467.1:c.724+793C>A p.? p.? 2 2 793 5' 94.9812 11.083 0.996327 XI.95 94.9812 11.083 0.996327 XI.95 0 0.000187 0.000000 0.000000 0.000000 0.000000 0.000000 0.000286 0.000000 0.000000 0.000286 1 0 0 0 0 0 1 0 0 5348 394 196 84 238 0 3498 762 176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C A C>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.33846155 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . INTRON(MODIFIER||||AQP12B|mRNA|CODING|NM_001102467|) . . . . . . . 0.4925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000185176 AQP12B AQP12B ENST00000414322:c.*531C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs529645209 2 241634759 C A - AQP12A 19941 Aquaporin 12A NM_198998.2 1 1084 888 NP_945349.1 Q8IXF9 substitution intron GRCh37 241634759 241634759 Chr2(GRCh37):g.241634759C>A 688+793 688+793 NM_198998.2:c.688+793C>A p.? p.? 3 3 609789 793 5' 94.9812 11.083 0.996327 XI.95 94.9812 11.083 0.996327 XI.95 0 rs529645209 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.000800 0.001000 0.000000 0.015900 0.004300 0.007007 0.001490 0.004314 0.000000 0.000000 0.005042 0.014742 0.011765 0.009211 0.014742 209 12 19 0 0 12 143 16 7 29826 8056 4404 316 2850 2380 9700 1360 760 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 209 12 19 0 0 12 143 16 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.279 248 PASS . . . . . 0.0008 0.0042 0.0043 . 0.016 0.001 . . . . . 0.3 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||AQP12A|mRNA|CODING|NM_198998|) . . . . . . . -0.8131 . . . . . . . . 2.451e-03 . . . 0.0217 0.0448 0 0 . 0.0806 0 0 0 0.0625 0 0 0.0556 0.2 . 0 . . . . . . intronic intronic intronic . . . 0.0042 . . . . . . ENSG00000184945 AQP12A AQP12A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs529645209 . . . . . . . . . . . . . . ENST00000373309 0.714 -1.43 . 0.000000 . . . . . . . . . . 0.0016 0.0069 0.0044 0 0 0.0054 0.0151 0.0145 0.0050 0.0014 0.0072 0.0031 0 0 0.0141 0.0143 0 . . . . -0.364 -0.364000 . . 0.000000 . . 1.0E-248 . . . . . . . . . -0.364 . . . . . . 1 1538 10 1/0 0,255,255 +rs114401766 2 241808531 C T - AGXT 341 Alanine-glyoxylate aminotransferase NM_000030.2 1 1598 1179 NP_000021.1 P21549 substitution intron GRCh37 241808531 241808531 Chr2(GRCh37):g.241808531C>T 166-56 166-56 NM_000030.2:c.166-56C>T p.? p.? 2 1 604285 -56 3' 71.8757 6.24216 0.312167 3.75938 71.8757 6.24216 0.312167 III.54 0 rs114401766 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 0.002880 0.001053 0.000000 0.009259 0.000000 0.000000 0.004876 0.001430 0.003030 0.009259 62 7 0 2 0 0 48 3 2 21528 6648 672 216 1390 0 9844 2098 660 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 7 0 2 0 0 48 3 2 0 0 0 0 0 0 0 0 0 RF 68 Genomes RCV000186227.1 germline research VUS 0 Primary hyperoxaluria, type I transition C T C>T 0.299 0.044 197 PASS 0.05 0.05 0.07 0.0035 0.07 . . . . . . . . . . . 0.15183246 . . germline 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000186227.1 . MedGen:OMIM:Orphanet:SNOMED_CT C0268164:259900:ORPHA93598:65520001 2 . . . 382.0 . . INTRON(MODIFIER||||AGXT|mRNA|CODING|NM_000030|) . . . . . . . 0.3502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.38 182 ENSG00000172482 AGXT AGXT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114401766 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0029 0 0.0093 0 0.0014 0.0049 0.0030 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.07 . . rs114401766 rs114401766 1 1538 10 1/0 0,173,255 +rs754274900 2 241827711 T C - C2orf54 26216 Chromosome 2 open reading frame 54 NM_001085437.2 -1 2525 1344 NP_001078906.2 Q08AI8 substitution missense exon GRCh37 241827711 241827711 Chr2(GRCh37):g.241827711T>C 1249 1249 NM_001085437.2:c.1249A>G p.Lys417Glu p.Lys417Glu 4 -3 5' 85.2503 8.22968 0.960154 13.8146 82.5023 7.07454 0.902159 13.0949 -0.0776664 transition A G A>G 1.000 0.690 K Lys AAG 0.575 E Glu GAG 0.583 417 12 11 Platypus 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 53.23 16.44 Deleterious 0.03 III.56 255 PASS . . . . . . . . . . . . . . . . 0.525 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.459 . @ . . . . . 1 0.930 . . 40.0 . . . . . . . . . . -0.0587 0.007 -0.059 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.537 . . exonic exonic exonic . . 0.384 @ . . . . . . ENSG00000172478 C2orf54 C2orf54 . . . 0.731 0.230 . . . . . . . Uncertain_significance . 0 . 0.304 . . . . T 0.413 0.019 . . 37 . 0.365 . . 0.405 . . . 0.659 0.289 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.387 . . 0 0 0 0 0 0 . 0.402 . . 0.363 . . . . . . 0 0.599 . . . . . 0.185 . 0.283 . HET 0.02 . . . . . . . . . . . . . V.33 . . IV.61 III.45 . 0.000000 . 0.0112 0.122 . . . 0.370 . . III.45 . . . . . . . . . . . . . . . . . . . 0.208 . 0.641 0.641000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.536 0.998 . 0.392 . 0.635 0.641 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs200882977 2 241834996 C T - C2orf54 26216 Chromosome 2 open reading frame 54 NM_001085437.2 -1 2525 1344 NP_001078906.2 Q08AI8 substitution missense exon GRCh37 241834996 241834996 Chr2(GRCh37):g.241834996C>T 419 419 NM_001085437.2:c.419G>A p.Arg140His p.Arg140His 1 -96 5' 72.0444 8.68156 0.900624 VI.95 72.0444 8.68156 0.900624 VI.95 0 rs200882977 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.002018 0.000127 0.000495 0.000000 0.000000 0.000000 0.003858 0.001417 0.002348 0.003858 554 3 17 0 0 0 483 36 15 274520 23710 34328 10080 18806 30612 125184 25412 6388 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.000000 0.000000 5 0 0 0 0 0 5 0 0 544 3 17 0 0 0 473 36 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8516 4373 12889 28 3 31 0.00327715 0.000685558 0.00239938 0.00327715 0.000685558 0.00239938 37 transition G A G>A 0.000 0.044 R Arg CGT 0.082 H His CAT 0.413 140 12 5 Platypus 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 260.17 0.00 Tolerated 0.56 III.92 255 PASS . . . . . . 0.0002 0.0014 . . . ENSG00000172478:ENST00000388934:exon1:c.G419A:p.R140H C2orf54:uc002wae.4:exon1:c.G419A:p.R140H C2orf54:NM_001085437:exon1:c.G419A:p.R140H . . 0.42962962 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.399 . @ . . . . . 1 0.781 . . 135.0 . . . 0.0007 0.0024 0.0033 0.0007 0.0024 0.0033 . -0.4855 -0.629 -0.486 c . . . . . 1.924e-03 . . . 0.0005 0.0015 0.0003 0 0.0021 0.0029 0.0033 0 0.0004 0.0019 0.0003 0 0.0016 0.0033 0.0017 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.079 . . exonic exonic exonic . . 0.183 0.0002 . . . 0.13 0.36 182 ENSG00000172478 C2orf54 C2orf54 . . . 0.997 0.351 . 94 0.00144669 64976 93 0.00155036 59986 Uncertain_significance . 0 . 0.015 . . . . T 0.115 0.005 . . 37 . 0.092 . . 0.136 . . . 0.315 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.506 . . 0.464 . . . . . . 0 0.232 . . . . . 0.033 . 0.112 . HET 0.13 rs200882977 . . . . . . . . . . . . 2.0288 5.39E-4 ENST00000388934 V.41 0.901 . 0.190000 Q08AI8 . . . 0.002399 . 0.180 . . . 0.0002 0.0017 0.0005 0 0 0.0016 0.0032 0.0015 0 0 0.0043 0.0012 0 0 0.0003 0.0084 0.0071 . . 0.283 . 0.238 0.238000 . . 0.190000 . . 1.0E-255 0.013 0.187 . 0.134 0.072 . 0.256 . 0.362 0.238 0.033 0.0033 . . rs200882977 rs200882977 1 1538 10 1/0 0,241,255 +rs116160757 2 242163569 C T - ANO7 31677 Anoctamin 7 NM_001001891.3 1 4128 2802 NP_001001891.2 Q6IWH7 substitution 3'UTR GRCh37 242163569 242163569 Chr2(GRCh37):g.242163569C>T *1 *1 NM_001001891.3:c.*1C>T p.? p.? 25 605096 58 3' 75.0945 7.17569 0.947738 9.50456 75.0945 7.17569 0.947738 9.18243 0 rs116160757 yes no Frequency/1000G 2 C 0.000000 0 0.006390 0.000000 0.011200 0.000000 0.018900 0.002900 0.009452 0.001791 0.006805 0.023578 0.000053 0.010367 0.013396 0.000973 0.009774 0.023578 2612 43 234 238 1 319 1689 25 63 276354 24006 34386 10094 18866 30770 126082 25704 6446 0.000159 0.000000 0.000116 0.000396 0.000000 0.000260 0.000174 0.000000 0.000931 22 0 2 2 0 4 11 0 3 2568 43 230 234 1 311 1667 25 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4396 12862 134 10 144 0.0155814 0.00226963 0.0110718 0.0155814 0.00226963 0.0110718 56 transition C T C>T 0.000 -1.489 255 PASS . 0.01 0.01 . 0.02 . 0.0064 0.0029 . 0.019 0.011 . . . . . 0.5072464 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . . 0.0023 0.011 0.016 0.0023 0.011 0.016 . 0.0224 . . . . . . . . 9.556e-03 . . . 0.0020 0.0105 0.0051 0.0002 0.0011 0.0168 0.0042 0.0098 0.0020 0.0089 0.0051 0.0003 0.0010 0.0127 0.0073 0.0098 . . . . . . UTR3 UTR3 UTR3 . . . 0.0064 . . . 0.45 0.75 182 ENSG00000146205 ANO7 ANO7 ENST00000274979:c.*1C>T uc002wax.2:c.*1C>T NM_001001891:c.*1C>T . . . 758 0.0116658 64976 726 0.0121028 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116160757 . . . . . . . . . . . . . . . . . . . . . . . 0.011072 . . . . . 0.0016 0.0097 0.0068 0.0237 5.798e-05 0.0009 0.0136 0.0104 0.0104 0.0022 0.0071 0.0084 0.0199 0 0.0017 0.0118 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs116160757 rs116160757 1 1538 10 1/0 0,255,255 +rs35606623 2 242437023 A G - STK25 11404 Serine/threonine kinase 25 NM_001271977.1 -1 2589 1281 NP_001258906.1 O00506 substitution intron GRCh37 242437023 242437023 Chr2(GRCh37):g.242437023A>G 1104+8 1104+8 NM_001271977.1:c.1104+8T>C p.? p.? 10 10 602255 8 5' 87.5642 8.40856 0.95184 9.75203 87.5642 8.40856 0.982747 X.97 0.0108236 rs35606623 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.001500 0.003100 0.000000 0.008000 0.005800 0.004740 0.000875 0.002209 0.004045 0.000000 0.003833 0.006891 0.005934 0.005115 0.006891 1310 21 76 41 0 118 868 153 33 276394 24004 34412 10136 18858 30782 125968 25782 6452 0.000043 0.000000 0.000000 0.000197 0.000000 0.000000 0.000064 0.000078 0.000000 6 0 0 1 0 0 4 1 0 1298 21 76 39 0 118 860 151 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4398 12940 58 8 66 0.00674419 0.00181571 0.00507458 0.00674419 0.00181571 0.00507458 67 transition T C T>C 0.000 -2.619 255 PASS 0.002 0.0046 0.0028 . 0.01 0.0015 0.0034 0.0058 . 0.008 0.0031 . . . . . 0.5254237 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . 0.0018 0.0051 0.0067 0.0018 0.0051 0.0067 . -0.5683 . . . . . . . . 4.903e-03 . . . 0.0015 0.0047 0.0027 0 0.0074 0.0068 0.0057 0.0036 0.0013 0.0049 0.0028 0 0.0065 0.0067 0.0101 0.0036 . . . . . . intronic UTR3 intronic . . . 0.0034 . . . 0.17 0.17 182 ENSG00000115694 STK25 STK25 . uc002wbl.3:c.*1198T>C . . . . 361 0.0055559 64976 344 0.00573467 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35606623 0.022 0.014 . . . . . . . . . . . . . . . . . . 0 0 . 0.005075 . . . . . 0.0010 0.0048 0.0022 0.0041 0 0.0061 0.0068 0.0053 0.0038 0.0007 0.0046 0.0024 0.0033 0 0.0046 0.0075 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs35606623 rs35606623 rs35606623 rs35606623 1 1538 10 1/0 0,255,255 +rs7425600 2 242946430 G A - LINC01237 49793 Long intergenic non-protein coding RNA 1237 NR_110220.1 1 576 0 substitution intron GRCh37 242946430 242946430 Chr2(GRCh37):g.242946430G>A 313+38232 313+38232 NR_110220.1:n.313+38232G>A p.? p.? 3 3 38232 5' 91.4889 X.58 0.990569 V.78 91.4889 X.58 0.990569 V.78 0 rs7425600 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93552 2766 18710 6492 7798 15592 35020 4484 2690 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 116 Exomes transition G A G>A 0.937 0.367 255 PASS . . . . . . . . . . . . BC101234:uc002wct.1:exon1:c.G431A:p.R144H . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . INTRON(MODIFIER||||LINC01237|Non-coding_transcript|NON_CODING|NR_110220|) . . . . . . . -0.3893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . @ . . . 0.4 0.25 182 ENSG00000233806 BC101234 LINC01237 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7425600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7425600 rs7425600 rs7425600 rs7425600 1 1538 10 1/0 0,255,255 +rs72997345 3 4735157 C T - ITPR1 6180 Inositol 1,4,5-triphosphate receptor, type 1 NM_001168272.1 1 10197 8232 NP_001161744.1 substitution intron GRCh37 4735157 4735157 Chr3(GRCh37):g.4735157C>T 3985-17 3985-17 NM_001168272.1:c.3985-17C>T p.? p.? 32 31 147265 -17 3' 83.485 8.18062 0.936221 9.65187 83.485 8.01707 0.965922 9.42644 0.00391056 rs72997345 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.001500 0.002000 0.000000 0.011900 0.011500 0.007117 0.001749 0.001743 0.000493 0.000000 0.003512 0.010994 0.011918 0.009142 0.011918 1969 42 60 5 0 108 1388 307 59 276658 24012 34414 10140 18870 30756 126252 25760 6454 0.000101 0.000000 0.000000 0.000000 0.000000 0.000130 0.000111 0.000311 0.000310 14 0 0 0 0 2 7 4 1 1941 42 60 5 0 104 1374 299 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8170 3747 11917 80 3 83 0.00969697 0.0008 0.00691667 0.00969697 0.0008 0.00691667 238 transition C T C>T 0.000 -1.328 255 PASS 0.002 0.01 0.02 . 0.02 0.0015 0.0048 0.011 . 0.012 0.002 . . . . . 0.556701 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . 0.0008 0.0069 0.0097 0.0008 0.0069 0.0097 . 0.1041 . . . . . . . . 7.794e-03 . . . 0.0015 0.0058 0.0026 0 0.0103 0.0087 0.0071 0.0043 0.0011 0.0077 0.0027 0 0.0118 0.0114 0.0044 0.0043 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.36 0.12 182 ENSG00000150995 ITPR1 ITPR1 . . . . . . 637 0.00980362 64976 613 0.0102191 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72997345 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.006917 . . . . . 0.0015 0.0071 0.0016 0.0005 0 0.0119 0.0112 0.0080 0.0035 0.0022 0.0072 0.0084 0 0 0.0123 0.0092 0.0153 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . rs72997345 rs72997345 rs72997345 1 1538 10 1/0 0,255,255 +rs147250678 3 8787514 C T - CAV3 1529 Caveolin 3 NM_001234.4 1 1335 456 NP_001225.1 P56539 substitution synonymous exon GRCh37 8787514 8787514 Chr3(GRCh37):g.8787514C>T 417 417 NM_001234.4:c.417C>T p.Val139= p.Val139Val 2 601253 -46 5' 80.5382 VI.52 0.698647 6.98674 80.5382 VI.52 0.698647 6.28288 0 Caveolin rs147250678 yes no Frequency 1 C uncertain_significance,likely_benign 0.000000 0 0.000369 0.000042 0.000174 0.002366 0.000000 0.000000 0.000530 0.000079 0.000310 0.002366 102 1 6 24 0 0 67 2 2 276336 24024 34414 10144 18862 30776 126376 25284 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102 1 6 24 0 0 67 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4406 12999 7 0 7 0.000813953 0 0.000538213 0.000813953 0 0.000538213 92 RCV000349095.1|RCV000029456.1|RCV000402310.1|RCV000226274.3|RCV000309463.1|RCV000399401.1|RCV000379233.1 germline|germline|germline|germline|germline|germline|germline|germline clinical testing|curation|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing VUS|Likely benign|VUS|Conflicting interpretations of pathogenicity|VUS|VUS|VUS 1|1|1|1|1|1|1 Caveolinopathy|Cardiomyopathy|Romano-Ward syndrome|Long QT syndrome|Hypertrophic cardiomyopathy|Limb-Girdle Muscular Dystrophy, Dominant|not specified transition C T C>T 0.992 0.205 V Val GTC 0.240 V Val GTT 0.178 139 255 PASS . . . . . . . . . . . . . . . . 0.5 . . germline 66 . . 1.2.2016 0 0 0 0 1 0 1 1 0 0 0 0 . . . . . . . . Likely//\@benign//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance Likely_benign|other|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000029456.1|RCV000226274.2|RCV000309463.1|RCV000349095.1|RCV000379233.1|RCV000399401.1|RCV000402310.1 . MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:Orphanet|MedGen|MedGen|MedGen:SNOMED_CT C0878544:ORPHA167848:85898001|C0023976:9651007|HP:0001639:C0007194:ORPHA217569|CN043575:ORPHA207078|CN169374|CN239426|CN119492:20852007 2 . . . 132.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.9622 . . . . . . . . 3.157e-04 . . . 0 0.0003 0.0002 0 0 0.0006 0 0 0 0.0003 0.0002 0 0 0.0005 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.24 182 ENSG00000182533 CAV3 CAV3 . . . . . . 12 0.000184684 64976 12 0.000200047 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs147250678 . . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNACC\x3dRCV000029456.1 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000029456.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0878544:85898001 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000029456.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0878544:85898001 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000029456.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0878544:85898001 . . . . . . . . . . . . . . . . Name\x3dnsv876514 0.000538 . . . . . 0 0.0004 0.0002 0.0023 0 4.589e-05 0.0005 0.0004 0 0.0001 0.0005 0 0.0033 0 0.0003 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs147250678 . 1 1538 10 1/0 0,253,255 +rs144799805 3 10016159 C T - EMC3 23999 ER membrane protein complex subunit 3 NM_018447.3 -1 2642 786 NP_060917.1 Q9P0I2 substitution synonymous exon GRCh37 10016159 10016159 Chr3(GRCh37):g.10016159C>T 321 321 NM_018447.3:c.321G>A p.Leu107= p.Leu107Leu 5 14 3' 82.461 9.63019 0.979876 6.71199 82.461 9.63019 0.983289 6.24664 0.00116103 Cryptic Acceptor Weakly Activated 10016154 2.97923 0.303065 79.5493 4.01798 0.318217 79.5493 Protein of unknown function DUF106, transmembrane Uncharacterised conserved protein UCP010045, transmembrane eukaryotic rs144799805 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004106 0.000749 0.001104 0.000197 0.000000 0.002632 0.004861 0.013982 0.003560 0.013982 1138 18 38 2 0 81 616 360 23 277156 24034 34408 10148 18868 30776 126714 25748 6460 0.000036 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000311 0.000000 5 0 0 0 0 1 0 4 0 1128 18 38 2 0 79 616 352 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8554 4405 12959 46 1 47 0.00534884 0.000226963 0.00361372 0.00534884 0.000226963 0.00361372 129 COSM308430 Kidney 0.000578 1729 transition G A G>A 0.976 -0.117 L Leu TTG 0.127 L Leu TTA 0.073 107 255 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0014 . 0.005 0.001 . . EMC3:NM_018447:exon4:c.G321A:p.L107L . . 0.6304348 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L107|EMC3|mRNA|CODING|NM_018447|NM_018447.ex.4) 0.0002 0.0036 0.0053 0.0002 0.0036 0.0053 . 1.1396 . . . . . . . . 4.159e-03 . . . 0.0005 0.0030 0.0008 0 0.0145 0.0039 0.0014 0.0023 0.0004 0.0041 0.0007 0 0.0142 0.0053 0.0029 0.0023 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.26 0.2 182 ENSG00000125037 EMC3 EMC3 . . . . . . 289 0.0044478 64976 282 0.0047011 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144799805 . . . . . . ID\x3dCOSM308430\x3bOCCURENCE\x3d1(kidney) . . . . . . . . . . . . . . . . 0.003614 . . . . . 0.0005 0.0040 0.0011 0.0002 0 0.0135 0.0049 0.0031 0.0026 0.0013 0.0046 0.0012 0 0 0.0172 0.0043 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144799805 rs144799805 1 1538 10 1/0 0,255,255 +rs183138323 3 10127689 G T - FANCD2 3585 Fanconi anemia complementation group D2 NM_033084.4 1 5246 4416 NP_149075.2 substitution intron GRCh37 10127689 10127689 Chr3(GRCh37):g.10127689G>T 3335+83 3335+83 NM_033084.4:c.3335+83G>T p.? p.? 33 33 613984 83 5' 95.6376 X.36 0.996255 III.81 95.6376 X.36 0.996255 III.81 0 Cryptic Acceptor Strongly Activated 10127701 5.83142 0.02159 78.9648 8.48393 0.122395 84.8344 rs183138323 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004588 0.001261 0.001193 0.000000 0.000000 0.000000 0.004401 0.016619 0.006110 0.016619 142 11 1 0 0 0 66 58 6 30952 8720 838 302 1622 0 14998 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 142 11 1 0 0 0 66 58 6 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion G T G>T 0.008 -0.037 243 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.29166666 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.1199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.5 0.13 182 . . . . . . . . . 283 0.00435545 64976 276 0.00460107 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183138323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0046 0.0012 0 0 0.0166 0.0044 0.0061 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . 0.01 . . rs183138323 rs183138323 1 1538 10 1/0 0,255,255 +rs183138323 3 10127689 G T - FANCD2OS 28623 FANCD2 opposite strand NM_001164839.1 -1 865 534 NP_001158311.1 Q96PS1 substitution downstream GRCh37 10127689 10127689 Chr3(GRCh37):g.10127689G>T *18236 *18236 NM_001164839.1:c.*18236C>A p.? p.? 2 18778 3' 85.2709 11.459 0.956729 XI.63 85.2709 11.459 0.956729 XI.63 0 rs183138323 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004588 0.001261 0.001193 0.000000 0.000000 0.000000 0.004401 0.016619 0.006110 0.016619 142 11 1 0 0 0 66 58 6 30952 8720 838 302 1622 0 14998 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 142 11 1 0 0 0 66 58 6 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C A C>A 0.008 -0.037 243 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.29166666 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.1199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.5 0.13 182 . . . . . . . . . 283 0.00435545 64976 276 0.00460107 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183138323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0046 0.0012 0 0 0.0166 0.0044 0.0061 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . 0.01 . . rs183138323 rs183138323 1 1538 10 1/0 0,255,255 +rs139684563 3 10334546 C T - GHRL 18129 Ghrelin/obestatin prepropeptide NM_001302821.1 -1 1101 354 NP_001289750.1 Q9UBU3 substitution 5'UTR GRCh37 10334546 10334546 Chr3(GRCh37):g.10334546C>T -537 -537 NM_001302821.1:c.-537G>A p.? p.? 1 605353 -21 5' 100 X.83 0.997836 X.09 100 X.83 0.997836 9.86165 0 rs139684563 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000800 0.002000 0.000000 0.002000 0.011500 0.003543 0.000980 0.002890 0.001173 0.000342 0.000709 0.006756 0.000844 0.003770 0.006756 640 16 70 10 4 16 489 17 18 180652 16322 24224 8526 11698 22578 72378 20152 4774 0.000022 0.000000 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000419 2 0 1 0 0 0 0 0 1 636 16 68 10 4 16 489 17 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3162 1384 4546 20 0 20 0.00628536 0 0.0043802 0.00628536 0 0.0043802 32 transition G A G>A 0.000 -0.279 253 PASS 0.002 0.0041 0.02 . 0.0013 0.0008 0.0026 0.011 . 0.002 0.002 . . . . . 0.31746033 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.137 . @ . . . . . 1 0.156 . . 63.0 . . . . 0.0044 0.0063 . 0.0044 0.0063 . -0.7733 -0.972 -0.773 c . . . . . 1.929e-03 . . . 0 0.0021 0.0025 0 0 0.0044 0.0053 0.0003 0 0.0011 0.0034 0 0 0.0030 0.0056 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.580 . . exonic exonic exonic . . 0.085 0.0026 . . . 0.61 0.51 182 ENSG00000157017 GHRL GHRL . . . 1.000 0.747 . 362 0.00557129 64976 349 0.00581802 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.180 . . 0.218 . . . . 0.196 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.965 . . 0 0 0 0 0 0 . 0.539 . . 0.366 . . . . . . 0 0.912 . . . . . 0.036 . 0.067 . HET 0 rs139684563 . . . . . . . 0.004120879120879121 0.0020325203252032522 0.019337016574585635 0.0 0.0013192612137203166 2.1885 0.0 . 3.III -1.38 . 0.000000 . . . . 0.004380 . 0.068 . . . 0.0009 0.0036 0.0028 0.0011 0.0004 0.0009 0.0072 0.0039 0.0007 0.0010 0.0032 0.0060 0.0033 0 0.0006 0.0052 0.0031 . . 0.301 . -0.078 -0.078000 . . 0.000000 . . 1.0E-253 0.006 0.172 . 0.168 0.000 . 0.201 . 0.118 -0.078 -1.044 0.02 . . rs139684563 rs139684563 1 1538 10 1/0 0,255,255 +rs139684563 3 10334546 C T - GHRLOS 33885 Ghrelin opposite strand/antisense RNA NR_073566.1 1 1948 0 substitution exon GRCh37 10334546 10334546 Chr3(GRCh37):g.10334546C>T 1361 1361 NR_073566.1:n.1361C>T 7 795 3' 95.6962 7.11231 0.983308 3.89931 95.6962 7.11231 0.983308 3.89931 0 Cryptic Acceptor Weakly Activated 10334555 2.87656 0.005589 72.8401 2.889 0.009079 75.552 rs139684563 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000800 0.002000 0.000000 0.002000 0.011500 0.003543 0.000980 0.002890 0.001173 0.000342 0.000709 0.006756 0.000844 0.003770 0.006756 640 16 70 10 4 16 489 17 18 180652 16322 24224 8526 11698 22578 72378 20152 4774 0.000022 0.000000 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000419 2 0 1 0 0 0 0 0 1 636 16 68 10 4 16 489 17 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3162 1384 4546 20 0 20 0.00628536 0 0.0043802 0.00628536 0 0.0043802 32 transition C T C>T 0.000 -0.279 253 PASS 0.002 0.0041 0.02 . 0.0013 0.0008 0.0026 0.011 . 0.002 0.002 . . . . . 0.31746033 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.137 . @ . . . . . 1 0.156 . . 63.0 . . . . 0.0044 0.0063 . 0.0044 0.0063 . -0.7733 -0.972 -0.773 c . . . . . 1.929e-03 . . . 0 0.0021 0.0025 0 0 0.0044 0.0053 0.0003 0 0.0011 0.0034 0 0 0.0030 0.0056 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.580 . . exonic exonic exonic . . 0.085 0.0026 . . . 0.61 0.51 182 ENSG00000157017 GHRL GHRL . . . 1.000 0.747 . 362 0.00557129 64976 349 0.00581802 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.180 . . 0.218 . . . . 0.196 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.965 . . 0 0 0 0 0 0 . 0.539 . . 0.366 . . . . . . 0 0.912 . . . . . 0.036 . 0.067 . HET 0 rs139684563 . . . . . . . 0.004120879120879121 0.0020325203252032522 0.019337016574585635 0.0 0.0013192612137203166 2.1885 0.0 . 3.III -1.38 . 0.000000 . . . . 0.004380 . 0.068 . . . 0.0009 0.0036 0.0028 0.0011 0.0004 0.0009 0.0072 0.0039 0.0007 0.0010 0.0032 0.0060 0.0033 0 0.0006 0.0052 0.0031 . . 0.301 . -0.078 -0.078000 . . 0.000000 . . 1.0E-253 0.006 0.172 . 0.168 0.000 . 0.201 . 0.118 -0.078 -1.044 0.02 . . rs139684563 rs139684563 1 1538 10 1/0 0,255,255 +. (chr3:11924613 AG/A) 3 11924613 AG A Not on a known gene +rs371377637 3 12598632 T C - MKRN2 7113 Makorin ring finger protein 2 NM_014160.4 1 2848 1251 NP_054879.3 Q9H000 substitution 5'UTR GRCh37 12598632 12598632 Chr3(GRCh37):g.12598632T>C -18 -18 NM_014160.4:c.-18T>C p.? p.? 1 608426 -44 5' 90.1175 8.94121 0.843093 XII.89 90.1175 8.94121 0.843093 XII.95 0 rs371377637 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.002300 0.002000 0.000000 0.006000 0.002900 0.004897 0.001557 0.002808 0.005217 0.000000 0.001051 0.009200 0.001608 0.004587 0.009200 646 17 55 38 0 20 479 20 17 131906 10918 19590 7284 6868 19034 52066 12440 3706 0.000091 0.000183 0.000102 0.000000 0.000000 0.000000 0.000115 0.000000 0.000540 6 1 1 0 0 0 3 0 1 634 15 53 38 0 20 473 20 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7676 3950 11626 38 4 42 0.00492611 0.00101163 0.00359959 0.00492611 0.00101163 0.00359959 13 transition T C T>C 0.000 0.609 255 PASS . . . . . 0.0023 0.0026 0.0029 . 0.006 0.002 . . . . . 0.5058824 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . 0.001 0.0036 0.0049 0.001 0.0036 0.0049 . 0.8686 . . . . . . . . 1.704e-03 . . . 0.0017 0.0042 0 0 0 0.0108 0.0077 0.0013 0.0018 0.0036 0 0 0 0.0096 0.0083 0.0013 . . . . . . UTR5 UTR5 UTR5 . . . 0.0026 . . . 0.43 0.42 182 ENSG00000075975 MKRN2 MKRN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371377637 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.003600 . . . . II.31 0.0022 0.0044 0.0026 0.0053 0 0.0017 0.0082 0.0044 0.0011 0.0014 0.0066 0.0072 0.0033 0 0.0014 0.0118 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs371377637 rs371377637 1 1538 10 1/0 0,255,255 +rs201139246 3 12944239 G A - IQSEC1 29112 IQ motif and Sec7 domain 1 NM_014869.6 -1 5486 2892 NP_055684.3 Q6DN90 substitution intron GRCh37 12944239 12944239 Chr3(GRCh37):g.12944239G>A 2847+34 2847+34 NM_014869.6:c.2847+34C>T p.? p.? 13 13 610166 34 5' 84.8093 9.81513 0.990062 7.30539 84.8093 9.81513 0.990062 7.25619 0 rs201139246 yes no Frequency 1 0.000000 0 0.000171 0.000000 0.000000 0.000000 0.000000 0.000000 0.000311 0.000317 0.000000 0.000317 47 0 0 0 0 0 39 8 0 274660 23690 34310 10120 18806 30606 125490 25242 6396 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 1 0 0 0 0 0 0 1 0 45 0 0 0 0 0 39 6 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 72 transition C T C>T 0.961 0.932 255 PASS . . . . . . . . . . . . . . . . 0.5641026 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.04 . . . . . . . . 1.973e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0002 0 0 0.0003 0.0003 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.39 182 ENSG00000144711 IQSEC1 IQSEC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201139246 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . II.64 0 0.0002 0 0 0 0.0003 0.0003 0 0 0 0.0002 0 0 0 0.0003 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs201139246 rs201139246 1 1538 10 1/0 0,255,255 +rs79958555 3 14173930 C T - TMEM43 28472 Transmembrane protein 43 NM_024334.2 1 3342 1203 NP_077310.1 Q9BTV4 substitution intron GRCh37 14173930 14173930 Chr3(GRCh37):g.14173930C>T 393-116 393-116 NM_024334.2:c.393-116C>T p.? p.? 5 4 612048 -116 3' 93.041 XI.66 0.972508 7.36173 93.041 XI.66 0.972508 7.36173 0 rs79958555 yes no Frequency/1000G 2 C 0.000000 0 0.015375 0.055200 0.000000 0.000000 0.000000 0.005800 0.009832 0.034328 0.000000 0.000000 0.000000 0.000000 0.000134 0.000000 0.003055 0.034328 304 299 0 0 0 0 2 0 3 30920 8710 838 302 1622 0 14978 3488 982 0.013158 0.013378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 4 0 0 0 0 0 0 0 296 291 0 0 0 0 2 0 3 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 -1.409 255 PASS 0.04 0.01 0.01 . . 0.055 0.015 0.0058 . . . . . . . . 0.3809524 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . INTRON(MODIFIER||||TMEM43|mRNA|CODING|NM_024334|) . . . . . . . -0.2861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0154 . . . 0.18 0.12 182 ENSG00000170876 TMEM43 TMEM43 . . . . . . 85 0.00130818 64976 8 0.000133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79958555 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0343 0.0098 0 0 0 0 0.0001 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 . . rs79958555 rs79958555 1 1538 10 1/0 0,248,255 +. 3 14444308 CT C - SLC6A6 11052 Solute carrier family 6 (neurotransmitter transporter), member 6 NM_003043.5 1 6538 1863 NP_003034.2 P31641 deletion 5'UTR GRCh37 14444309 14444309 Chr3(GRCh37):g.14444309del -100 -100 NM_003043.5:c.-100del p.? p.? 1 186854 -47 5' 71.4999 10.0514 0.812339 XI.15 71.4999 10.0514 0.812339 11.606 0 rs68047955 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999966 0.999884 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 29319 8647 782 224 1622 0 13682 3464 898 29320 8648 782 224 1622 0 13682 3464 898 0.499983 0.499942 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 14659 4323 391 112 811 0 6841 1732 449 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes T 255 Pass 0.99 0.99 0.99 0.99 0.99 1. 1. 1. 1. 1. 1. . . . . . 0.9183673 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 splicing . . . . . . . . . . ENSG00000131389 SLC6A6 SLC6A6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs68047955 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.99 . rs68047955 rs68047955 rs68047955 1 1538 10 1.I 0,109,255 +. 3 14509887 C CA - SLC6A6 11052 Solute carrier family 6 (neurotransmitter transporter), member 6 NM_003043.5 1 6538 1863 NP_003034.2 P31641 duplication intron GRCh37 14509890 14509891 Chr3(GRCh37):g.14509890dup 1096+170 1096+170 NM_003043.5:c.1096+170dup p.? p.? 9 9 186854 170 5' 84.1959 X.66 0.935915 4.32387 84.1959 X.66 0.935915 4.32387 0 rs55719538 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999967 1.000000 1.000000 1.000000 1.000000 0.000000 0.999931 1.000000 1.000000 1.000000 29961 8404 820 278 1590 0 14463 3470 936 29962 8404 820 278 1590 0 14464 3470 936 0.499983 0.500000 0.500000 0.500000 0.500000 0.000000 0.499965 0.500000 0.500000 14980 4202 410 139 795 0 7231 1735 468 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 31 Genomes A 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.88235295 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000131389 SLC6A6 SLC6A6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397790292 0.098 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs55719538 rs55719538 1 1538 10 1.I 0,5,5 +rs187677971 3 14952662 T G - FGD5 19117 FYVE, RhoGEF and PH domain containing 5 NM_152536.3 1 5897 4389 NP_689749.3 Q6ZNL6 substitution intron GRCh37 14952662 14952662 Chr3(GRCh37):g.14952662T>G 3405+226 3405+226 NM_152536.3:c.3405+226T>G p.? p.? 11 11 614788 226 5' 91.4889 X.58 0.994647 X.56 91.4889 X.58 0.994647 X.56 0 Cryptic Donor Strongly Activated 14952657 0.009447 61.8569 4.89859 0.76679 74.2497 rs187677971 yes no Frequency/1000G 2 T 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.006000 0.005800 0.002488 0.000689 0.001193 0.003311 0.000000 0.000000 0.004268 0.000286 0.004073 0.004268 77 6 1 1 0 0 64 1 4 30948 8714 838 302 1622 0 14996 3494 982 0.012987 0.000000 0.000000 0.000000 0.000000 0.000000 0.015625 0.000000 0.000000 1 0 0 0 0 0 1 0 0 75 6 1 1 0 0 62 1 4 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T G T>G 0.000 -0.360 255 PASS . 0.0023 0.01 . 0.004 . 0.002 0.0058 . 0.006 . . . . . . 0.5625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||FGD5|mRNA|CODING|NM_152536|) . . . . . . . -0.0915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.26 0.31 182 ENSG00000154783 FGD5 FGD5 . . . . . . 191 0.00293955 64976 181 0.00301737 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187677971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0025 0.0012 0.0033 0 0.0003 0.0043 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187677971 rs187677971 1 1538 10 1/0 0,255,255 +rs147070802 3 15515683 C T - COLQ 2226 Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase NM_005677.3 -1 3005 1368 NP_005668.2 Q9Y215 substitution intron GRCh37 15515683 15515683 Chr3(GRCh37):g.15515683C>T 600+52 600+52 NM_005677.3:c.600+52G>A p.? p.? 9 9 603033 52 5' 82.2818 8.99306 0.93185 3.63673 82.2818 8.99306 0.93185 3.49345 0 rs147070802 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.002000 0.000000 0.013900 0.011500 0.008679 0.001707 0.003722 0.004041 0.000000 0.003736 0.012213 0.018575 0.008359 0.018575 2404 41 128 41 0 115 1546 479 54 276994 24014 34392 10146 18832 30780 126582 25788 6460 0.000108 0.000000 0.000000 0.000000 0.000000 0.000000 0.000205 0.000078 0.000310 15 0 0 0 0 0 13 1 1 2374 41 128 41 0 115 1520 477 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7082 3131 10213 82 5 87 0.0114461 0.00159439 0.0084466 0.0114461 0.00159439 0.0084466 100 transition G A G>A 0.000 -0.360 255 PASS 0.0041 0.01 0.02 0.0017 0.02 . 0.0048 0.011 . 0.014 0.002 . . . . . 0.5294118 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0016 0.0084 0.011 0.0016 0.0084 0.011 . 0.1015 . . . . . . . . 8.737e-03 . . . 0.0016 0.0073 0.0024 0 0.0187 0.0114 0.0070 0.0038 0.0016 0.0081 0.0022 0 0.0185 0.0115 0.0072 0.0038 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.09 0.15 182 ENSG00000206561 COLQ COLQ . . . . . . 716 0.0110195 64976 692 0.011536 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147070802 . . . . . . . . . . . . . . . . . . . . 0.0001 0.006 . 0.008447 . . . . . 0.0016 0.0086 0.0037 0.0041 0 0.0184 0.0121 0.0082 0.0037 0.0019 0.0097 0.0036 0.0033 0 0.0195 0.0134 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs147070802 rs147070802 1 1538 10 1/0 0,255,255 +rs144961978 3 15529505 T C - COLQ 2226 Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase NM_005677.3 -1 3005 1368 NP_005668.2 Q9Y215 substitution intron GRCh37 15529505 15529505 Chr3(GRCh37):g.15529505T>C 321+208 321+208 NM_005677.3:c.321+208A>G p.? p.? 3 3 603033 208 5' 80.0438 8.07704 0.595514 5.70777 80.0438 8.07704 0.595514 5.70777 0 rs144961978 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.000000 0.002000 0.000000 0.014900 0.002900 0.009078 0.003093 0.008353 0.043046 0.000617 0.000000 0.013342 0.006869 0.009184 0.043046 281 27 7 13 1 0 200 24 9 30954 8728 838 302 1622 0 14990 3494 980 0.003559 0.000000 0.000000 0.076923 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 279 27 7 11 1 0 200 24 9 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -1.570 227 PASS . 0.0027 0.0028 . 0.01 . 0.0038 0.0029 . 0.015 0.002 . . . . . 0.2413793 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.0003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.17 0.17 182 ENSG00000206561 COLQ COLQ . . . . . . 906 0.0139436 64976 887 0.0147868 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144961978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0091 0.0084 0.0430 0.0006 0.0069 0.0133 0.0092 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . 0.01 . . rs144961978 rs144961978 1 1538 10 1/0 0,255,255 +rs145388314 3 15686008 C T - BTD 1122 Biotinidase NM_001281723.2 1 4157 1638 NP_001268652.1 substitution synonymous exon GRCh37 15686008 15686008 Chr3(GRCh37):g.15686008C>T 651 651 NM_001281723.2:c.651C>T p.Leu217= p.Leu217Leu 4 609019 186 3' 93.2147 12.565 0.996332 13.5909 93.2147 12.565 0.996332 13.5909 0 Carbon-nitrogen hydrolase Biotinidase, eukaryotic rs145388314 yes no Frequency/1000G 2 C benign 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.008000 0.000000 0.007752 0.001539 0.003632 0.033399 0.000053 0.000552 0.010740 0.008219 0.008815 0.033399 2149 37 125 339 1 17 1361 212 57 277228 24034 34420 10150 18864 30782 126718 25794 6466 0.000094 0.000000 0.000000 0.000985 0.000000 0.000000 0.000110 0.000078 0.000000 13 0 0 5 0 0 7 1 0 2123 37 125 329 1 17 1347 210 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8512 4397 12909 88 9 97 0.0102326 0.00204267 0.0074581 0.0102326 0.00204267 0.0074581 221 RCV000078078.5|RCV000021954.2 germline|germline|not provided|germline clinical testing|clinical testing|clinical testing|clinical testing Benign|Conflicting interpretations of pathogenicity 2|1 not specified|Biotinidase deficiency transition C T C>T 0.961 -0.198 L Leu CTC 0.197 L Leu CTT 0.129 217 255 PASS . 0.0014 . . 0.004 . 0.0016 . . 0.008 . . . . . . 0.4631579 . . germline 44 . . 1.2.2016 0 0 0 0 1 0 1 1 1 0 0 0 . . . . . . . . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign other|Benign RCV000021954.2|RCV000078078.4 Biotinidase_deficiency|not_specified MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0220754:253260:ORPHA79241:8808004|CN169374 2 . . . 95.0 . . . 0.002 0.0075 0.01 0.002 0.0075 0.01 . 0.5458 . . . . . . . . 7.727e-03 . . . 0.0012 0.0070 0.0024 0 0.0071 0.0132 0.0042 0.0007 0.0013 0.0075 0.0021 0 0.0065 0.0130 0.0058 0.0007 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.24 0.4 182 ENSG00000169814 BTD BTD . . . . . . 528 0.00812608 64976 520 0.00866869 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs145388314 . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dBiotinidase_deficiency\x3bCLNACC\x3dRCV000021954.1 CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dBiotinidase_deficiency|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000021954.1|RCV000078078.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.\x3bCLNDSDBID\x3dNBK1322:C0220754:253260:ORPHA79241:8808004|. CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dBiotinidase_deficiency|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000021954.1|RCV000078078.3\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1322:C0220754:253260:ORPHA79241:8808004|CN169374 CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dBiotinidase_deficiency|not_specified\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000021954.1|RCV000078078.3\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1322:C0220754:253260:ORPHA79241:8808004|CN169374 . . . . . . . . . . . . . . . . . 0.007458 . . . . . 0.0016 0.0080 0.0036 0.0331 0 0.0084 0.0112 0.0095 0.0006 0.0015 0.0056 0.0048 0.0430 0.0006 0.0069 0.0077 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145388314 rs145388314 1 1538 10 1/0 0,255,255 +rs368311767 3 25651117 C T - TOP2B 11990 Topoisomerase (DNA) II beta NM_001068.3 -1 5343 4866 NP_001059.2 substitution synonymous exon GRCh37 25651117 25651117 Chr3(GRCh37):g.25651117C>T 3858 3858 NM_001068.3:c.3858G>A p.Leu1286= p.Leu1286Leu 29 126431 -59 5' 81.7977 7.53822 0.953594 0 81.7977 7.53822 0.953594 0 0 rs368311767 yes no Frequency 1 C 0.000000 0 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000011 0.000000 0.000215 0.000011 2 0 0 0 0 0 1 0 1 204932 13152 27948 8718 14738 24134 90970 20628 4644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 44 Exomes 8187 3728 11915 1 0 1 0.00012213 0 8.39208e-05 0.00012213 0 8.39208e-05 61 transition G A G>A 0.362 1.900 L Leu TTG 0.127 L Leu TTA 0.073 1286 255 PASS . . . . . . . . . . . . . TOP2B:NM_001068:exon29:c.G3858A:p.L1286L . . 0.36708862 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L1286|TOP2B|mRNA|CODING|NM_001068|NM_001068.ex.29) . 0.0001 0.0001 . 0.0001 0.0001 . 1.0360 . . . . . . . . 1.604e-05 . . . 0 4.708e-05 0 0 0 0.0001 0 0 0 2.354e-05 0 0 0 5.261e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.65 0.47 182 ENSG00000077097 TOP2B TOP2B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368311767 . . . . . . . . . . . . . . . . . . . . . . . 0.000084 . . . . V.72 0 9.759e-06 0 0 0 0 1.099e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs368311767 rs368311767 1 1538 10 1/0 0,255,255 +rs142286195 3 28566038 A G - ZCWPW2 23574 Zinc finger CW-type and PWWP domain containing 2 NM_001040432.3 1 2937 1071 NP_001035522.1 Q504Y3 substitution synonymous exon GRCh37 28566038 28566038 Chr3(GRCh37):g.28566038A>G 930 930 NM_001040432.3:c.930A>G p.Glu310= p.Glu310Glu 10 21 3' 86.7851 7.45506 0.832667 II.26 86.7851 7.45506 0.832667 2.24926 0 rs142286195 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000609 0.000169 0.000412 0.000000 0.000000 0.000000 0.001128 0.000156 0.000322 0.001128 163 4 13 0 0 0 140 4 2 267666 23610 31522 9978 18340 28172 124154 25684 6206 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 163 4 13 0 0 0 140 4 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4403 12989 10 1 11 0.00116333 0.000227066 0.000846154 0.00116333 0.000227066 0.000846154 131 transition A G A>G 0.378 1.739 E Glu GAA 0.417 E Glu GAG 0.583 310 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . ZCWPW2:NM_001040432:exon10:c.A930G:p.E310E . . 0.33333334 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 27.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E310|ZCWPW2|mRNA|CODING|NM_001040432|NM_001040432.ex.10) 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . 0.0225 . . . . . . . . 6.393e-04 . . . 9.864e-05 0.0005 0.0003 0 0.0003 0.0009 0 0 0.0001 0.0006 0.0003 0 0.0005 0.0011 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.49 0.4 182 ENSG00000206559 ZCWPW2 ZCWPW2 . . . . . . 51 0.000784905 64976 50 0.000833528 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142286195 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 X.81 2.68E-4 ENST00000419130 6.III IV.81 . . . . . . 0.000846 . . . . IV.81 6.722e-05 0.0006 0.0004 0 0 0.0002 0.0011 0.0004 0 0.0003 0.0008 0 0 0 0 0.0014 0 . . . . 2.302 2.302000 . . . . . 1.0E-255 . . . . . . . . . 2.302 . 0.0013 . . rs142286195 rs142286195 1 1538 10 1/0 0,255,255 +rs186544854 3 33194431 C A - SUSD5 29061 Sushi domain containing 5 NM_015551.1 -1 5005 1890 NP_056366.1 O60279 substitution missense exon GRCh37 33194431 33194431 Chr3(GRCh37):g.33194431C>A 1693 1693 NM_015551.1:c.1693G>T p.Asp565Tyr p.Asp565Tyr 5 1095 3' 93.3337 13.3546 0.99246 11.695 93.3337 13.3546 0.99246 11.695 0 New Donor Site 33194433 6.1277 0.484015 72.1805 rs186544854 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.001972 0.000333 0.000756 0.004241 0.000000 0.000065 0.003535 0.000466 0.001239 0.004241 546 8 26 43 0 2 447 12 8 276894 24022 34408 10140 18854 30770 126466 25778 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 544 8 26 43 0 2 445 12 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4393 12942 29 1 30 0.00338074 0.000227583 0.00231267 0.00338074 0.000227583 0.00231267 60 transversion G T G>T 0.913 1.900 D Asp GAC 0.539 Y Tyr TAC 0.562 565 11 6 Cat -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 231.75 70.26 Deleterious 0.02 III.39 good 4.917E-2 0.1124 255 PASS . 0.0023 0.01 . 0.0026 . 0.001 0.0043 . 0.002 . ENSG00000173705:ENST00000309558:exon5:c.G1693T:p.D565Y SUSD5:uc003cfo.1:exon5:c.G1693T:p.D565Y SUSD5:NM_015551:exon5:c.G1693T:p.D565Y . . 0.352459 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.545 . @ . . . . . 1 0.147 . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D565Y|SUSD5|mRNA|CODING|NM_015551|NM_015551.ex.5) 0.0002 0.0023 0.0034 0.0002 0.0023 0.0034 . -0.0290 -0.061 -0.029 c . . . . . 1.968e-03 . . . 0.0003 0.0018 0.0005 0 0.0003 0.0035 0.0014 6.074e-05 0.0004 0.0017 0.0005 0 0.0008 0.0031 0 6.108e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.455 0.0010 . . . 0.29 0.32 182 ENSG00000173705 SUSD5 SUSD5 . . . 1.000 0.439 . 112 0.00172371 64976 107 0.00178375 59986 Uncertain_significance . 0 . 0.244 . . . . T 0.325 0.013 . . 37 . 0.105 . . 0.171 . . . 0.526 0.338 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.767 . . 0 0 0 0 0 0 . 0.423 . . 0.371 . . . . . . 0 0.506 . . . . . 0.378 . 0.483 . HET 0.01 rs186544854 . . . . . . . 0.0022893772893772895 0.0 0.008287292817679558 0.0 0.002638522427440633 IX.56 2.68E-4 ENST00000309558 5.VIII 4.0 . 0.030000 O60279 . . . 0.002313 . 0.617 . . 4 0.0002 0.0019 0.0008 0.0044 0 0.0004 0.0035 0.0009 6.5e-05 0.0006 0.0022 0 0 0 0.0006 0.0039 0.0031 . . 0.730 . 0.785 0.785000 . . 0.030000 . . 1.0E-255 0.998 0.411 . 0.062 0.025 . 0.484 . 0.445 0.785 0.871 0.01 . . rs186544854 rs186544854 1 1538 10 1/0 0,241,255 +rs61751640 3 33467112 G A - UBP1 12507 Upstream binding protein 1 (LBP-1a) NM_001128161.1 -1 3767 1623 NP_001121633.1 Q9NZI7 substitution missense exon GRCh37 33467112 33467112 Chr3(GRCh37):g.33467112G>A 235 235 NM_001128161.1:c.235C>T p.His79Tyr p.His79Tyr 3 609784 -31 5' 89.8177 8.54173 0.993336 0 89.8177 8.54173 0.993336 0 0 Cryptic Donor Strongly Activated 33467114 56.8914 1.14354 0.043334 62.6615 CP2 transcription factor rs61751640 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.006000 0.001400 0.006478 0.002047 0.001115 0.000988 0.000000 0.000752 0.010669 0.011026 0.005600 0.011026 1789 49 38 10 0 23 1349 284 36 276180 23934 34084 10120 18824 30596 126436 25758 6428 0.000087 0.000000 0.000000 0.000000 0.000000 0.000065 0.000158 0.000078 0.000000 12 0 0 0 0 1 10 1 0 1765 49 38 10 0 21 1329 282 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8511 4395 12906 89 11 100 0.0103488 0.0024966 0.00768876 0.0103488 0.0024966 0.00768876 77 transition C T C>T 1.000 4.483 H His CAT 0.413 Y Tyr TAT 0.438 79 14 11 Tetraodon 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 142.23 0.00 Tolerated 0.23 III.58 good 8.29E-1 0.02293 255 PASS . 0.0037 0.0028 . 0.01 . 0.0016 0.0014 . 0.006 0.001 . . . . . 0.627451 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.418 . @ . . . . . 1 0.567 . . 51.0 . . . 0.0025 0.0077 0.01 0.0025 0.0077 0.01 . 0.1704 0.373 0.170 c . . . . . 6.811e-03 . . . 0.0023 0.0051 0.0014 0 0.0132 0.0084 0.0074 0.0008 0.0020 0.0069 0.0014 0 0.0118 0.0111 0.0077 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.179 . . exonic exonic exonic . . 0.955 0.0016 . . . 0.44 0.32 182 ENSG00000153560 UBP1 UBP1 . . . 1.000 0.747 . 541 0.00832615 64976 533 0.00888541 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.132 . . 0.017 . . . 0.345 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.753 . . 0 0 0 0 0 0 . 0.131 . . 0.237 . . . . . . 0 0.393 . . . . . 0.634 . 0.299 . HET 0.05 rs61751640 . . . . . . . 0.003663003663003663 0.0 0.0027624309392265192 0.0 0.009234828496042216 13.9369 0.00214 . V.92 V.92 . 0.050000 . . . Name\x3ddgv1445e1 0.007689 . 0.709 . . V.92 0.0021 0.0064 0.0011 0.0010 0 0.0108 0.0108 0.0051 0.0008 0.0019 0.0069 0 0 0 0.0123 0.0097 0.0081 . . 0.830 . 2.810 2.810000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 0.924 . 0.749 . 0.613 2.810 0.917 0.01 rs61751640 rs61751640 rs61751640 rs61751640 1 1538 10 1/0 0,255,255 +rs572516072 3 36986349 G T - TRANK1 29011 Tetratricopeptide repeat and ankyrin repeat containing 1 NM_001329998.1 -1 10616 8910 NP_001316927.1 substitution 5'UTR GRCh37 36986349 36986349 Chr3(GRCh37):g.36986349G>T -49 -49 NM_001329998.1:c.-49C>A p.? p.? 1 -72 5' 80.7243 6.60222 0.985701 7.14527 80.7243 6.60222 0.985701 6.93033 0 rs572516072 yes no Frequency/1000G 2 G 0.003594 T 18 0.003594 0.000800 0.000000 0.000000 0.012900 0.005800 0.007777 0.003204 0.004842 0.015363 0.000000 0.005290 0.011216 0.002719 0.010327 0.015363 612 30 43 66 0 58 373 18 24 78690 9362 8880 4296 2988 10964 33256 6620 2324 0.000051 0.000000 0.000225 0.000000 0.000000 0.000182 0.000000 0.000000 0.000000 2 0 1 0 0 1 0 0 0 608 30 41 66 0 56 373 18 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.402 1.255 255 PASS . . . . . 0.0008 0.0036 0.0058 . 0.013 . . . . . . 0.3888889 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . UTR_5_PRIME(MODIFIER||||TRANK1|mRNA|CODING|NM_014831|NM_014831.ex.1) . . . . . . . 0.6542 . . . . . . . . 5.010e-03 . . . 0 0.0072 0 0 . 0.0172 0.0143 0.0044 0 0.0071 0 0 . 0.0173 0.0143 0.0044 . . . . . . UTR5 UTR5 UTR5 . . . 0.0036 . . . . . . ENSG00000168016 TRANK1 TRANK1 . uc003cgj.3:c.-49C>A NM_014831:c.-49C>A . . . 622 0.00957277 64976 603 0.0100523 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs572516072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0030 0.0090 0.0046 0.0153 0 0.0029 0.0135 0.0119 0.0053 0.0032 0.0059 0.0072 0.0166 0 0.0026 0.0085 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 3 37560577 CT C - ITGA9 6145 Integrin, alpha 9 NM_002207.2 1 3962 3108 NP_002198.2 Q13797 deletion intron GRCh37 37560594 37560594 Chr3(GRCh37):g.37560594del 1142-157 1142-157 NM_002207.2:c.1142-157del p.? p.? 11 10 603963 -157 3' 91.0663 9.48299 0.975075 8.39776 91.0663 9.48299 0.975075 8.39776 0 rs879137747 no no 0 T 0.000000 0 0.004557 0.003899 0.010823 0.008547 0.001295 0.000000 0.003087 0.032110 0.003268 0.032110 104 29 5 2 2 0 36 28 2 22822 7438 462 234 1544 0 11660 872 612 0.009615 0.034483 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 8 4 0 0 1 0 1 1 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.36666667 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 30 . . INTRON(MODIFIER||||ITGA9|mRNA|CODING|NM_002207|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000144668 ITGA9 ITGA9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0039 0.0046 0.0108 0.0085 0.0013 0.0321 0.0031 0.0033 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,44 +rs762109737 3 38153757 T C - DLEC1 2899 Deleted in lung and esophageal cancer 1 NM_007337.3 1 5494 5337 NP_031363.2 substitution missense exon GRCh37 38153757 38153757 Chr3(GRCh37):g.38153757T>C 3571 3571 NM_007337.3:c.3571T>C p.Ser1191Pro p.Ser1191Pro 25 604050 57 3' 85.5235 5.32117 0.738072 I.08 85.5235 5.32117 0.738072 1.81493 0 rs762109737 yes no Frequency 1 T 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000032 0.000018 0.000000 0.000000 0.000032 3 0 0 0 0 1 2 0 0 246252 15292 33582 9850 17248 30782 111718 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transition T C T>C 0.008 0.286 S Ser TCC 0.220 P Pro CCC 0.328 1191 12 9 Frog -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 244.26 I.62 Deleterious 0.04 III.15 255 PASS . . . . . . . . . . . . . . . . 0.37190083 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.851 . . 121.0 . . . . . . . . . . -0.4258 -0.413 -0.426 c . . . . . 1.594e-05 . . . 0 2.22e-05 0 0 0 2.374e-05 0 6.06e-05 0 1.894e-05 0 0 0 1.84e-05 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.390 @ . . . . . . ENSG00000008226 DLEC1 DLEC1 . . . 0.997 0.354 . . . . . . . Uncertain_significance . 0 . 0.234 . . . . T 0.310 0.012 . . 37 . 0.071 . . 0.243 . . . 0.698 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.582 . . 0 0 0 0 0 0 . 0.311 . . 0.270 . . . . . . 0 0.254 . . . . . 0.186 . 0.635 . HET 0.15 rs762109737 . . . . . . . . . . . . V.78 . . IV.74 3.V . 0.290000 . . . . . . 0.138 . . 3.V 0 1.218e-05 0 0 0 0 1.79e-05 0 3.249e-05 . . . . . . . . . . 0.372 . 1.787 1.787000 . . 0.290000 . . 1.0E-255 0.001 0.137 . 0.276 0.271 . 0.208 . 0.159 1.787 0.991 . . . . . 1 1538 10 1/0 0,244,255 +rs188080038 3 38271827 A G - OXSR1 8508 Oxidative-stress responsive 1 NM_005109.2 1 4523 1584 NP_005100.1 O95747 substitution intron GRCh37 38271827 38271827 Chr3(GRCh37):g.38271827A>G 886-29 886-29 NM_005109.2:c.886-29A>G p.? p.? 10 9 604046 -29 3' 91.3481 9.18567 0.981635 VI.54 91.3481 9.18567 0.981635 6.40813 0 New Acceptor Site 38271828 3.22146 0.002255 72.9666 38271827 -64.6952 rs188080038 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.001755 0.000255 0.000545 0.000210 0.000000 0.001346 0.002896 0.001329 0.001647 0.002896 457 6 16 2 0 36 353 34 10 260426 23566 29378 9508 17700 26752 121878 25574 6070 0.000008 0.000000 0.000000 0.000000 0.000000 0.000075 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 455 6 16 2 0 34 353 34 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4389 12931 22 3 25 0.00256889 0.00068306 0.00192961 0.00256889 0.00068306 0.00192961 38 transition A G A>G 0.000 1.093 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.001 0.001 . . . . . 0.5294118 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . INTRON(MODIFIER||||OXSR1|mRNA|CODING|NM_005109|) 0.0007 0.0019 0.0026 0.0007 0.0019 0.0026 . 0.2677 . . . . . . . . 1.974e-03 . . . 0.0003 0.0017 0.0004 0 0.0011 0.0028 0 0.0013 0.0002 0.0020 0.0005 0 0.0014 0.0032 0 0.0013 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.48 0.13 182 ENSG00000172939 OXSR1 OXSR1 . . . . . . 137 0.00210847 64976 135 0.00225053 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188080038 . . . . . . . . . . . . . . . . . . . . . . . 0.001930 . . . . II.79 0.0003 0.0018 0.0006 0.0002 0 0.0012 0.0029 0.0020 0.0013 0.0002 0.0015 0 0 0 0.0020 0.0025 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs188080038 rs188080038 1 1538 10 1/0 0,255,255 +rs144370188 3 38524728 C G - ACVR2B 174 Activin A receptor, type IIB NM_001106.3 1 11373 1539 NP_001097.2 Q13705 substitution missense exon GRCh37 38524728 38524728 Chr3(GRCh37):g.38524728C>G 1444 1444 NM_001106.3:c.1444C>G p.Arg482Gly p.Arg482Gly 11 602730 100 3' 75.1337 5.70311 0.771481 9.48609 75.1337 5.70311 0.771481 9.48609 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000182 0.000000 1 0 0 0 0 0 0 0 1 246266 15304 33582 9850 17248 30782 111714 22300 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 119 Exomes transversion C G C>G 1.000 1.093 R Arg CGG 0.207 G Gly GGG 0.250 482 14 10 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 247.86 0.00 Tolerated 0.17 III.63 good 4.007E-1 0.3242 255 PASS . . . . . . . . . . . ENSG00000114739:ENST00000352511:exon11:c.C1444G:p.R482G . ACVR2B:NM_001106:exon11:c.C1444G:p.R482G . . 0.42982456 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.306 . @ . . . . . 1 0.472 . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R482G|ACVR2B|mRNA|CODING|NM_001106|NM_001106.ex.11) . . . . . . . -0.3235 -0.150 -0.324 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.841 . . exonic exonic exonic . . 0.368 0.0002 . . . 0.21 0.23 182 ENSG00000114739 ACVR2B ACVR2B . . . 1.000 0.408 . . . . . . . Uncertain_significance . 0 . 0.332 . . . . T 0.477 0.025 . . 37 . 0.735 . . 0.642 . . . 0.469 0.482 . . . . 0 1 0 0 0 0 0 1 0 0 0 0.295 . . 0 0 0 0 0 0 . 0.119 . . 0.063 . . . . . . 0 0.177 . . . . . 0.628 . 0.590 . HET 0.12 . . . . . . . . . . . . . 13.8508 . ENST00000352511 V.17 3.III . 0.360000 Q13705 . . . . . 0.556 . . 3.III 0 4.061e-06 0 0 0 0 0 0.0002 0 . . . . . . . . . . 0.730 . 0.681 0.681000 . . 0.360000 . . 1.0E-255 1.000 0.715 . 0.697 0.951 . 0.466 . 0.107 0.681 -0.639 . . . . . 1 1538 10 1/0 0,250,255 +rs141686175 3 38913706 A G - SCN11A 10583 Sodium voltage-gated channel alpha subunit 11 NM_001349253.1 -1 6789 5376 NP_001336182.1 Q9UI33 substitution missense exon GRCh37 38913706 38913706 Chr3(GRCh37):g.38913706A>G 3473 3473 NM_001349253.1:c.3473T>C p.Leu1158Pro p.Leu1158Pro 24 604385 -23 5' 76.7565 VII.57 0.926245 4.60154 76.7565 VII.57 0.926245 4.90074 0 rs141686175 yes no Frequency/1000G 2 A uncertain_significance,pathogenic 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000488 0.000083 0.000058 0.000000 0.000000 0.000000 0.000690 0.001629 0.000310 0.001629 135 2 2 0 0 0 87 42 2 276460 24012 34340 10128 18850 30720 126174 25780 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 135 2 2 0 0 0 87 42 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 160 RCV000282888.1|RCV000144934.4 germline|germline clinical testing|literature only VUS|Pathogenic 1|0 not specified|Episodic pain syndrome, familial, 3 CM145673 Painful peripheral neuropathy 24776970 DM transition T C T>C 1.000 4.725 L Leu CTG 0.404 P Pro CCG 0.115 1158 12 11 Chicken -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C45 14.30 86.59 Deleterious 0 III.44 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . SCN11A:uc021wvy.1:exon20:c.T3473C:p.L1158P . . . 0.45238096 . . germline 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.807 . Pathogenic//\%//\@Uncertain//\@significance Pathogenic|Uncertain_significance RCV000144934.3|RCV000282888.1 . MedGen:OMIM:Orphanet|MedGen C3809899:615552:ORPHA391392|CN169374 1 0.982 . . 42.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . 0.8890 0.772 0.889 c . . . . . 5.446e-04 . . . 9.628e-05 0.0005 8.679e-05 0 0.0021 0.0007 0.0014 0 0.0001 0.0005 8.951e-05 0 0.0014 0.0007 0.0029 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.989 . . exonic exonic exonic . . 0.828 0.0002 . . . 0.32 0.43 182 ENSG00000168356 SCN11A SCN11A . . . 1.000 0.747 . 21 0.000323196 64976 20 0.000333411 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.982 0.773 . . 37 . 0.994 . . 0.984 . . . 0.966 0.810 . . . . 1 0 0 0 0 0 0 1 0 0 1 0.930 . . 0 0 0 0 1 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.672 . 0.923 . HET 0 rs141686175 . . . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dEpisodic_pain_syndrome\x2c_familial\x2c_3\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000144934.2\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet:Orphanet\x3bCLNDSDBID\x3dCN182247:615552:ORPHA391384:ORPHA391392 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dEpisodic_pain_syndrome\x2c_familial\x2c_3\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000144934.2\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet:Orphanet\x3bCLNDSDBID\x3dC3809899:615552:ORPHA391384:ORPHA391392 . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 14.5053 0.0 . V.54 V.54 . 0.000000 Q9UI33 . . Name\x3dnsv876711 0.000615 . 0.948 . . V.54 6.545e-05 0.0004 5.97e-05 0 0 0.0015 0.0006 0.0002 0 0.0001 0.0009 0 0 0 0.0023 0.0011 0.0010 . . 0.428 . 2.098 2.098000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.390 0.941 . 0.948 . 0.960 2.098 1.062 0.0013 . . rs141686175 rs141686175 1 1538 10 1/0 0,255,255 +rs61743223 3 39142562 G A - GORASP1 16769 Golgi reassembly stacking protein 1, 65kDa NM_031899.3 -1 3782 1323 NP_114105.1 Q9BQQ3 substitution missense exon GRCh37 39142562 39142562 Chr3(GRCh37):g.39142562G>A 380 380 NM_031899.3:c.380C>T p.Ala127Val p.Ala127Val 4 606867 32 3' 90.0793 XI.06 0.833269 8.29465 90.0793 XI.06 0.833269 8.1305 0 GRASP55/65 rs61743223 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.001000 0.000000 0.007000 0.002900 0.004955 0.000708 0.003167 0.006798 0.000000 0.001624 0.007596 0.004228 0.008824 0.007596 1373 17 109 69 0 50 962 109 57 277114 24008 34416 10150 18870 30782 126646 25782 6460 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 1363 17 109 69 0 50 952 109 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4400 12950 50 6 56 0.00581395 0.00136178 0.00430571 0.00581395 0.00136178 0.00430571 66 CM1515233 Amyotrophic lateral sclerosis 25773295 DM? transition C T C>T 0.992 4.160 A Ala GCC 0.403 V Val GTC 0.240 127 12 11 Baker's yeast 0 0 -1 0 0 8.I 5.IX 31 84 64 C15 60.00 65.28 Deleterious 0.01 II.61 255 PASS . 0.0037 0.0028 . 0.01 . 0.002 0.0029 . 0.007 0.001 . . . . . 0.48 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.764 . @ . . . . . 1 0.988 . . 100.0 . . . 0.0014 0.0043 0.0058 0.0014 0.0043 0.0058 . 0.6727 0.522 0.673 c . . . . . 5.430e-03 . . . 0.0013 0.0049 0.0032 0 0.0045 0.0082 0.0070 0.0015 0.0010 0.0053 0.0030 0 0.0039 0.0085 0.0059 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.670 . . exonic exonic exonic . . 0.658 0.0020 . . . 0.37 0.26 182 ENSG00000114745 GORASP1 GORASP1 . . . 1.000 0.747 . 331 0.00509419 64976 321 0.00535125 59986 Uncertain_significance . 0 . 0.629 . . . . D 0.706 0.069 . . 37 . 0.794 . . 0.855 . . . 0.937 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.737 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 3 0.784 . . . . . 0.747 . 0.876 . HET 0 rs61743223 . 0.007 . . . . . 0.003663003663003663 0.0 0.0027624309392265192 0.0 0.009234828496042216 15.43 0.00107 . IV.99 IV.99 . 0.000000 . . . . 0.004306 . 0.682 . . IV.99 0.0007 0.0050 0.0032 0.0069 0 0.0040 0.0077 0.0091 0.0016 0.0007 0.0043 0.0012 0.0033 0 0.0054 0.0066 0.0072 . . 0.990 . 2.318 2.318000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.217 0.969 . 0.853 . 0.713 2.318 0.917 0.01 . . rs61743223 rs61743223 1 1538 10 1/0 0,255,255 +rs532676788 3 44903401 G C - MIR564 32820 MicroRNA 564 NR_030290.1 1 94 0 substitution exon GRCh37 44903401 44903401 Chr3(GRCh37):g.44903401G>C 22 22 NR_030290.1:n.22G>C 1 0.000025 0.000000 0.000000 0.000000 0.000000 0.000057 0.000037 0.000000 0.000000 0.000057 2 0 0 0 0 1 1 0 0 78782 1202 15528 5730 2912 17578 27324 6270 2238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Exomes transversion G C G>C 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.4520548 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . . . . . . . I.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0004 . . . . . . ENSG00000207783 MIR564 MIR564 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.539e-05 0 0 0 0 3.66e-05 0 5.689e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs532676788 3 44903401 G C - TMEM42 28444 Transmembrane protein 42 NM_144638.2 1 983 480 NP_653239.1 Q69YG0 substitution 5'UTR GRCh37 44903401 44903401 Chr3(GRCh37):g.44903401G>C -16 -16 NM_144638.2:c.-16G>C p.? p.? 1 -208 5' 59.8119 0 0.008152 5.31625 59.8119 0 0.008152 5.31625 0 0.000025 0.000000 0.000000 0.000000 0.000000 0.000057 0.000037 0.000000 0.000000 0.000057 2 0 0 0 0 1 1 0 0 78782 1202 15528 5730 2912 17578 27324 6270 2238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Exomes transversion G C G>C 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.4520548 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . . . . . . . I.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0004 . . . . . . ENSG00000207783 MIR564 MIR564 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.539e-05 0 0 0 0 3.66e-05 0 5.689e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 3 45461103 T TT - LARS2 17095 Leucyl-tRNA synthetase 2, mitochondrial NM_015340.3 1 4203 2712 NP_056155.1 Q15031 duplication intron GRCh37 45461104 45461105 Chr3(GRCh37):g.45461104dup 456-57 456-57 NM_015340.3:c.456-57dup p.? p.? 6 5 604544 -56 3' 82.9476 VIII.94 0.816896 VI.84 82.9476 VIII.94 0.816896 6.31064 0 rs11383389 yes no Frequency/1000G 2 0.000000 0 0.660343 0.946300 0.591000 0.311500 0.740600 0.603700 0.748254 0.914833 0.527578 0.721854 0.313433 0.000000 0.728650 0.688323 0.688139 0.914833 23142 7981 440 218 504 0 10921 2405 673 30928 8724 834 302 1608 0 14988 3494 978 0.388125 0.457461 0.259091 0.344037 0.152778 0.000000 0.366084 0.347193 0.344725 8982 3651 114 75 77 0 3998 835 232 5178 679 212 68 350 0 2925 735 209 0 0 0 0 0 0 0 0 0 PASS 46 Genomes 2181 375 2556 6073 3891 9964 0.264236 0.0879044 0.204153 0.735764 0.912096 0.795847 77 T 255 Pass . . . . . . . . . . . . . . . . 0.90909094 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33 . . INTRON(MODIFIER||||LARS2|mRNA|CODING|NM_015340|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000011376 LARS2 LARS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs35357583 . . 1 1538 10 1.I 0,4,4 +rs62242177 3 45677637 G T - LIMD1 6612 LIM domains containing 1 NM_014240.2 1 6284 2031 NP_055055.1 Q9UGP4 substitution splice site GRCh37 45677637 45677637 Chr3(GRCh37):g.45677637G>T 1409-5 1409-5 NM_014240.2:c.1409-5G>T p.? p.? 2 1 604543 -5 3' 81.3451 6.38387 0.350952 7.66637 85.1812 9.07897 0.858691 XI.85 0.638693 Cryptic Acceptor Strongly Activated 45677642 6.38387 0.350952 81.3451 9.07897 0.858691 85.1812 rs62242177 yes no Frequency/1000G 2 T 0.000000 0 0.503994 0.503800 0.505100 0.501000 0.504000 0.507200 transversion G T G>T 0.000 -0.037 255 PASS . . . . . 0.5 0.5 0.51 0.5 0.5 0.51 . . . . . 0.9767442 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||LIMD1|mRNA|CODING|NM_014240|) . . . . . . . 0.6360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4960 . . . 0.41 0.25 182 ENSG00000144791 LIMD1 LIMD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62242177 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62242177 rs62242177 rs62242177 rs62242177 1 1538 255 1.I 0,0,255 +rs62242178 3 45677638 C G - LIMD1 6612 LIM domains containing 1 NM_014240.2 1 6284 2031 NP_055055.1 Q9UGP4 substitution splice site GRCh37 45677638 45677638 Chr3(GRCh37):g.45677638C>G 1409-4 1409-4 NM_014240.2:c.1409-4C>G p.? p.? 2 1 604543 -4 3' 81.3451 6.38387 0.350952 7.66637 81.3451 6.04059 0.262429 6.23432 -0.102003 rs62242178 yes no Frequency/1000G 2 G 0.000000 0 0.495008 0.492400 0.482600 0.500000 0.503000 0.498600 transversion C G C>G 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.9775281 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||LIMD1|mRNA|CODING|NM_014240|) . . . . . . . 0.6412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.42 0.25 182 ENSG00000144791 LIMD1 LIMD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62242178 . . . . . . . . . . . . . . . . . . . . 0.0003 0.042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62242178 rs62242178 rs62242178 rs62242178 1 1538 255 1.I 0,0,255 +rs63132361 3 45677639 A C - LIMD1 6612 LIM domains containing 1 NM_014240.2 1 6284 2031 NP_055055.1 Q9UGP4 substitution splice site GRCh37 45677639 45677639 Chr3(GRCh37):g.45677639A>C 1409-3 1409-3 NM_014240.2:c.1409-3A>C p.? p.? 2 1 604543 -3 3' 81.3451 6.38387 0.350952 7.66637 91.3125 X.62 0.940523 X.61 0.801968 Cryptic Acceptor Strongly Activated 45677642 6.38387 0.350952 81.3451 X.62 0.940523 91.3125 rs63132361 yes no Frequency/1000G 2 C 0.000000 0 0.495008 0.492400 0.482600 0.500000 0.503000 0.498600 8207 4174 12381 393 232 625 0.0456977 0.0526555 0.0480547 0.0456977 0.0526555 0.0480547 157 transversion A C A>C 0.220 0.367 111 PASS . . . . . 0.49 0.49 0.5 0.5 0.5 0.48 . . . . . 0.9764706 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . INTRON(MODIFIER||||LIMD1|mRNA|CODING|NM_014240|) 0.053 0.048 0.046 0.053 0.048 0.046 . 1.0436 . . . . . . . . 5.285e-03 . . . 1 0.9837 1 0.9722 1 0.9917 1 0.92 1 0.9883 1 0.9756 1 1 1 0.92 . . . . . . intronic intronic intronic . . . 0.4950 . . . 0.4 0.28 182 ENSG00000144791 LIMD1 LIMD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs63132361 . . . . . . . . . . . . . . . . . . . . 0 0.026 . 0.048055 . . . . II.38 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.053 rs63132361 rs63132361 rs63132361 rs63132361 1 1538 255 1.I 0,0,255 +. 3 46501284 C CATT - LTF 6720 Lactotransferrin NM_002343.5 -1 2619 2133 NP_002334.2 P02788 insertion in-frame exon GRCh37 46501284 46501285 Chr3(GRCh37):g.46501284_46501285insATT 68 69 NM_002343.5:c.68_69insAAT p.Arg23_Ser24insMet p.Arg23_Ser24insMet 2 150210 25 3' 84.169 9.54655 0.938475 X.23 84.169 9.54655 0.938475 X.42 0 Transferrin AAT 255 Pass . . . . . . . . . . . . . LTF:NM_002343:exon2:c.68_69insAAT:p.R23delinsRM . . 1.0 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000012223 LTF LTF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 3 46935223 T A - PTH1R 9608 Parathyroid hormone 1 receptor NM_001184744.1 1 1991 1782 NP_001171673.1 Q03431 substitution intron GRCh37 46935223 46935223 Chr3(GRCh37):g.46935223T>A 76-174 76-174 NM_001184744.1:c.76-174T>A p.? p.? 3 2 168468 -174 3' 83.6112 8.45499 0.782157 7.26192 83.6112 8.45499 0.782157 7.26192 0 Cryptic Donor Strongly Activated 46935225 4.70008 0.311375 69.3239 5.19351 0.712995 73.1453 transversion T A T>A 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.65 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.7420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000160801 PTH1R PTH1R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201643728 3 47956384 T C - MAP4 6862 Microtubule-associated protein 4 NM_002375.4 -1 6327 3459 NP_002366.2 P27816 substitution missense exon GRCh37 47956384 47956384 Chr3(GRCh37):g.47956384T>C 1922 1922 NM_002375.4:c.1922A>G p.Glu641Gly p.Glu641Gly 8 157132 46 3' 79.7317 7.50146 0.960469 3.41244 79.7317 7.50146 0.960469 3.15921 0 Cryptic Acceptor Strongly Activated 47956369 0.005833 68.9119 0.70915 0.012691 68.9119 rs201643728 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000105 0.000000 0.000058 0.000000 0.000000 0.000000 0.000205 0.000000 0.000155 0.000205 29 0 2 0 0 0 26 0 1 277210 24028 34418 10152 18870 30780 126710 25790 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 0 2 0 0 0 26 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 161 transition A G A>G 0.000 0.448 E Glu GAG 0.583 G Gly GGG 0.250 641 10 7 Lesser hedgehog tenrec -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 147.78 0.00 Tolerated 0.16 III.68 good 4.159E-1 0.086 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . . . . . . 0.48 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.134 . @ . . . . . 1 0.336 . . 75.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.7817 -0.863 -0.782 c . . . . . 1.263e-04 . . . 0 0.0001 8.648e-05 0 0 0.0002 0 0 0 0.0001 8.917e-05 0 0 0.0002 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.239 0.0002 . . . 0.4 0.18 182 ENSG00000047849 MAP4 MAP4 . . . 0.064 0.153 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.126 0.005 . . 37 . 0.126 . . 0.282 . . . 0.263 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.654 . . 0 0 0 0 0 0 . 0.215 . . 0.218 . . . . . . 0 0.453 . . . . . 0.125 . 0.156 . HET 0.03 rs201643728 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 IV.74 . . IV.29 I.79 . 0.110000 . . . . 0.000077 . 0.117 . . . 0 8.934e-05 2.978e-05 0 0 0 0.0002 0.0002 0 0 0.0002 0.0012 0 0 0 0.0004 0 . . 0.730 . 0.235 0.235000 . . 0.110000 . . 1.0E-255 0.008 0.178 . 0.043 0.001 . 0.300 . 0.157 0.235 -0.208 0.0028 . . rs201643728 rs201643728 1 1538 10 1/0 0,255,255 +rs183648716 3 48463236 C T - PLXNB1 9103 Plexin B1 NM_001130082.2 -1 7143 6408 NP_001123554.1 O43157 substitution intron GRCh37 48463236 48463236 Chr3(GRCh37):g.48463236C>T 1521-21 1521-21 NM_001130082.2:c.1521-21G>A p.? p.? 7 6 601053 -21 3' 81.7419 6.19228 0.478142 2.37439 81.7419 6.19228 0.51712 3.24701 0.0271732 rs183648716 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000218 0.000042 0.000119 0.000412 0.000000 0.000000 0.000386 0.000000 0.000317 0.000412 59 1 4 4 0 0 48 0 2 270964 23930 33670 9706 18746 29962 124446 24196 6308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 1 4 4 0 0 48 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 33 transition G A G>A 0.000 -0.521 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . . . . . . 0.5 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.2919 . . . . . . . . 3.000e-04 . . . 9.895e-05 0.0003 8.684e-05 0 0 0.0006 0.0014 0 0.0001 0.0003 8.949e-05 0 0 0.0005 0.0015 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.19 0.18 182 ENSG00000164050 PLXNB1 PLXNB1 . . . . . . 14 0.000215464 64976 13 0.000216717 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183648716 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 6.579e-05 0.0002 9.137e-05 0.0004 0 0 0.0004 0.0004 0 0 0.0002 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs183648716 rs183648716 1 1538 10 1/0 0,255,255 +. 3 48936204 G A - SLC25A20 1421 Solute carrier family 25 member 20 NM_000387.5 -1 1892 906 NP_000378.1 O43772 substitution synonymous exon GRCh37 48936204 48936204 Chr3(GRCh37):g.48936204G>A 24 24 NM_000387.5:c.24C>T p.Ile8= p.Ile8Ile 1 613698 -82 5' 79.5269 8.16693 0.73148 8.55674 79.5269 8.16693 0.73148 8.55674 0 Mitochondrial substrate/solute carrier Mitochondrial carrier domain transition C T C>T 1.000 1.174 I Ile ATC 0.481 I Ile ATT 0.356 8 255 PASS . . . . . . . . . . . . SLC25A20:uc003cva.4:exon1:c.C24T:p.I8I SLC25A20:NM_000387:exon1:c.C24T:p.I8I . . 0.4631579 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 95.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I8|SLC25A20|mRNA|CODING|NM_000387|NM_000387.ex.1) . . . . . . . II.85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000178537 SLC25A20 SLC25A20 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 3 49137599 C G - MIR6890 49990 MicroRNA 6890 NR_106950.1 -1 61 0 substitution upstream GRCh37 49137599 49137599 Chr3(GRCh37):g.49137599C>G -252 -252 NR_106950.1:n.-252G>C p.? p.? 1 0.000004 0.000000 0.000030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000030 1 0 1 0 0 0 0 0 0 245886 15294 33574 9834 17246 30780 111384 22294 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 120 Exomes transversion G C G>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.4943182 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . 0.6167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172053 QARS QARS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.III 0 4.067e-06 2.979e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 3 49137599 C G - QARS 9751 Glutaminyl-tRNA synthetase NM_005051.2 -1 2821 2328 NP_005042.1 P47897 substitution intron GRCh37 49137599 49137599 Chr3(GRCh37):g.49137599C>G 1164+24 1164+24 NM_005051.2:c.1164+24G>C p.? p.? 13 13 603727 24 5' 77.4835 4.40651 0.480338 2.45139 77.4835 4.40651 0.480338 1.76823 0 Cryptic Acceptor Strongly Activated 49137582 0.157622 5.5e-05 62.3505 1.42896 6.1e-05 62.3505 0.000004 0.000000 0.000030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000030 1 0 1 0 0 0 0 0 0 245886 15294 33574 9834 17246 30780 111384 22294 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 120 Exomes transversion G C G>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.4943182 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . 0.6167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172053 QARS QARS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.III 0 4.067e-06 2.979e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs191007588 3 49154938 G C - USP19 12617 Ubiquitin specific peptidase 19 NM_001351100.1 -1 4867 4263 NP_001338029.1 substitution missense exon GRCh37 49154938 49154938 Chr3(GRCh37):g.49154938G>C 538 538 NM_001351100.1:c.538C>G p.Arg180Gly p.Arg180Gly 5 614471 66 3' 87.0653 X.08 0.961436 9.75748 87.0653 X.08 0.961436 9.39534 0 rs191007588 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000105 0.000000 0.000058 0.000000 0.000000 0.000000 0.000205 0.000000 0.000155 0.000205 29 0 2 0 0 0 26 0 1 277156 24010 34420 10152 18864 30782 126698 25776 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 0 2 0 0 0 26 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.827 0.851 R Arg CGC 0.190 G Gly GGC 0.342 180 12 6 Tetraodon -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 171.50 0.00 Tolerated 0.23 3.I 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . . . . . . 0.4060606 . . @ 67 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.403 . @ . . . . . 1 0.601 . . 165.0 . . . . . . . . . . -0.2453 -0.200 -0.245 c . . . . . 1.275e-04 . . . 0 0.0001 8.652e-05 0 0 0.0002 0 0 0 0.0001 8.919e-05 0 0 0.0002 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.466 0.0002 . . . 0.58 0.49 182 ENSG00000172046 USP19 USP19 . . . 0.918 0.265 . . . . . . . Uncertain_significance . 0 . 0.154 . . . . T 0.463 0.023 . . 37 . 0.209 . . 0.072 . . . 0.380 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.508 . . 0 0 0 0 0 0 . 0.647 . . 0.630 . . . . . . 1 0.384 . . . . . 0.383 . 0.378 . HET 0.06 rs191007588 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 IX.76 . . V.86 4.VII . 0.130000 . . . . . . 0.413 . . 4.VII 0 0.0001 2.978e-05 0 0 0 0.0002 0.0002 0 0 0.0001 0.0012 0 0 0 0.0002 0 . . 0.730 . 0.820 0.820000 . . 0.130000 . . 1.0E-255 1.000 0.715 . 0.188 0.048 . 0.398 . 0.026 0.820 0.028 0.0028 . . rs191007588 rs191007588 1 1538 10 1/0 0,231,255 +rs116717961 3 49548226 A G - DAG1 2666 Dystroglycan 1 NM_001165928.3 1 5886 2688 NP_001159400.2 Q14118 substitution missense exon GRCh37 49548226 49548226 Chr3(GRCh37):g.49548226A>G 259 259 NM_001165928.3:c.259A>G p.Ile87Val p.Ile87Val 5 128239 -27 5' 90.0021 8.68007 0.993233 7.72322 90.0021 8.68007 0.993233 7.30766 0 Cryptic Acceptor Strongly Activated 49548237 4.20965 0.152244 82.7617 4.83696 0.182705 82.7646 Dystroglycan-type cadherin-like Cadherin-like rs116717961 yes no Frequency/1000G 2 A 0.000000 0 0.005591 0.002300 0.000000 0.000000 0.015900 0.013000 0.007807 0.001332 0.015960 0.004145 0.000000 0.000032 0.010274 0.006127 0.012527 0.015960 2161 32 549 42 0 1 1298 158 81 276792 24032 34398 10132 18866 30772 126340 25786 6466 0.000130 0.000000 0.000523 0.000000 0.000000 0.000000 0.000127 0.000078 0.000000 18 0 9 0 0 0 8 1 0 2125 32 531 42 0 1 1282 156 81 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8500 4399 12899 100 7 107 0.0116279 0.00158874 0.00822697 0.0116279 0.00158874 0.00822697 41 RCV000514706.1|RCV000116864.4 germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing Likely benign|Conflicting interpretations of pathogenicity 1|1 not provided|not specified transition A G A>G 1.000 1.013 I Ile ATT 0.356 V Val GTT 0.178 87 12 8 Chicken 3 3 4 0 0 5.II 5.IX 111 84 29 C0 117.78 0.00 Tolerated 0.48 III.40 255 PASS 0.002 0.01 0.02 . 0.01 0.0023 0.0056 0.013 . 0.016 . . . . . . 0.5904762 . . germline 62 . . 1.2.2016 0 0 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.141 . Likely//\@benign Likely_benign RCV000116864.3 not_specified MedGen CN169374 1 0.164 . . 105.0 . . . 0.0016 0.0082 0.012 0.0016 0.0082 0.012 . -0.2776 -0.103 -0.278 c . . . . . 7.229e-03 . . . 0.0015 0.0076 0.0148 0 0.0032 0.0113 0.0126 6.144e-05 0.0016 0.0071 0.0145 0 0.0044 0.0099 0.0101 6.178e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.984 . . exonic exonic exonic . . 0.498 0.0056 . . . 0.51 0.16 182 ENSG00000173402 DAG1 DAG1 . . . 0.001 0.081 . 595 0.00915723 64976 567 0.00945221 59986 Likely_benign . 0 . 0.405 . . . . . . . . . 37 . 0.901 . . 0.841 . . . 0.413 0.270 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 1 0 . 0.126 . . 0.063 . . . . . . 0 0.506 . . . . . 0.246 . 0.289 . HET 0.03 rs116717961 . . . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000116864.2\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000116864.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000116864.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . 0.007326007326007326 0.0020325203252032522 0.016574585635359115 0.0 0.011873350923482849 7.1497 0.001873 . V.44 IV.27 . 0.350000 Q14118 . . Name\x3dnsv834687 0.008227 . 0.509 . . IV.27 0.0014 0.0080 0.0158 0.0042 0 0.0063 0.0104 0.0129 3.25e-05 0.0011 0.0062 0.0227 0.0033 0 0.0049 0.0090 0.0102 . . 0.730 . 0.866 0.866000 . . 0.350000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.427 . 0.866 0.866 1.062 0.02 . . rs116717961 rs116717961 1 1538 10 1/0 0,255,255 +rs4052589 3 49722397 G A - APEH 586 N-acylaminoacyl-peptide hydrolase NM_001640.3 1 2758 2199 NP_001631.3 P13798 substitution downstream GRCh37 49722397 49722397 Chr3(GRCh37):g.49722397G>A *1622 *1622 NM_001640.3:c.*1622G>A p.? p.? 22 102645 1728 3' 83.8335 6.17684 0.274624 3.35683 83.8335 6.17684 0.274624 3.35683 0 rs4052589 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243878 15004 33514 9762 17210 30692 110124 22114 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 92 Exomes transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.4169884 . . @ 108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 259.0 . . . . . . . . . . -0.0185 . . . . . . . . 7.900e-06 . . . . . . . . . . . 0 1.055e-05 0 0 0 2.073e-05 0 0 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.63 0.13 182 ENSG00000259970 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs4052589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4052589 rs4052589 rs4052589 rs4052589 1 1538 10 1/0 0,213,244 +rs4052589 3 49722397 G A - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution intron GRCh37 49722397 49722397 Chr3(GRCh37):g.49722397G>A 1622+48 1622+48 NM_020998.3:c.1622+48C>T p.? p.? 14 14 142408 48 5' 81.348 8.04975 0.982228 6.94906 81.348 8.04975 0.982228 6.85553 0 Cryptic Acceptor Weakly Activated 49722388 X.02 0.956096 83.0666 XI.46 0.975024 85.7784 rs4052589 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243878 15004 33514 9762 17210 30692 110124 22114 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 92 Exomes transition C T C>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.4169884 . . @ 108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 259.0 . . . . . . . . . . -0.0185 . . . . . . . . 7.900e-06 . . . . . . . . . . . 0 1.055e-05 0 0 0 2.073e-05 0 0 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.63 0.13 182 ENSG00000259970 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs4052589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4052589 rs4052589 rs4052589 rs4052589 1 1538 10 1/0 0,213,244 +rs760656029 3 49722464 G C - APEH 586 N-acylaminoacyl-peptide hydrolase NM_001640.3 1 2758 2199 NP_001631.3 P13798 substitution downstream GRCh37 49722464 49722464 Chr3(GRCh37):g.49722464G>C *1689 *1689 NM_001640.3:c.*1689G>C p.? p.? 22 102645 1795 3' 83.8335 6.17684 0.274624 3.35683 83.8335 6.17684 0.274624 3.35683 0 COSM584154|COSM584154|COSM584154 Thyroid|Skin|Lung 0.001339|0.000812|0.001165 747|1232|2576 transversion G C G>C 1.000 2.707 184 PASS . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon14:c.C1603G:p.R535G MST1:uc003cxg.3:exon14:c.C1603G:p.R535G MST1:NM_020998:exon14:c.C1603G:p.R535G . . 0.12138728 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.660 . @ . . . . . 1 0.460 . . 173.0 . . . . . . . . . . 0.3863 0.475 0.386 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.924 . . exonic exonic exonic . . 0.610 @ . . . . . . ENSG00000173531 MST1 MST1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.239 . . . . D 0.645 0.051 . . 37 . 0.847 . . 0.870 . . . 0.037 0.417 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.615 . . 0.508 . . . . . . 1 0.654 . . . . . 0.537 . 0.580 . LowAF 0 . . . . . . . . . . . . . XII.18 . ENST00000449682 4.VIII 4.VIII . 0.030000 G3XAK1 . . . . . 0.723 . . 4.VIII . . . . . . . . . . . . . . . . . . . 0.988 . 2.636 2.636000 . . 0.030000 . . 9.999999999999999E-185 0.972 0.342 . 0.750 0.985 . 0.621 . 0.539 2.636 0.917 . . . . . 1 1538 10 1/0 0,205,255 +rs760656029 3 49722464 G C - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution missense exon GRCh37 49722464 49722464 Chr3(GRCh37):g.49722464G>C 1603 1603 NM_020998.3:c.1603C>G p.Arg535Gly p.Arg535Gly 14 142408 -20 5' 81.348 8.04975 0.982228 6.94906 81.348 8.04975 0.982228 6.77179 0 Peptidase S1/S6, chymotrypsin/Hap Peptidase S1A, chymotrypsin-type COSM584154|COSM584154|COSM584154 Thyroid|Skin|Lung 0.001339|0.000812|0.001165 747|1232|2576 transversion C G C>G 1.000 2.707 R Arg CGG 0.207 G Gly GGG 0.250 535 11 10 Lesser hedgehog tenrec -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C15 101.88 109.60 Deleterious 0.04 IV.32 bad 3.164E-5 0.002081 184 PASS . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon14:c.C1603G:p.R535G MST1:uc003cxg.3:exon14:c.C1603G:p.R535G MST1:NM_020998:exon14:c.C1603G:p.R535G . . 0.12138728 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.660 . @ . . . . . 1 0.460 . . 173.0 . . . . . . . . . . 0.3863 0.475 0.386 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.924 . . exonic exonic exonic . . 0.610 @ . . . . . . ENSG00000173531 MST1 MST1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.239 . . . . D 0.645 0.051 . . 37 . 0.847 . . 0.870 . . . 0.037 0.417 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.615 . . 0.508 . . . . . . 1 0.654 . . . . . 0.537 . 0.580 . LowAF 0 . . . . . . . . . . . . . XII.18 . ENST00000449682 4.VIII 4.VIII . 0.030000 G3XAK1 . . . . . 0.723 . . 4.VIII . . . . . . . . . . . . . . . . . . . 0.988 . 2.636 2.636000 . . 0.030000 . . 9.999999999999999E-185 0.972 0.342 . 0.750 0.985 . 0.621 . 0.539 2.636 0.917 . . . . . 1 1538 10 1/0 0,205,255 +. 3 49722905 T TGG - APEH 586 N-acylaminoacyl-peptide hydrolase NM_001640.3 1 2758 2199 NP_001631.3 P13798 duplication downstream GRCh37 49722911 49722912 Chr3(GRCh37):g.49722910_49722911dup *2135 *2136 NM_001640.3:c.*2135_*2136dup p.? p.? 22 102645 2242 3' 83.8335 6.17684 0.274624 3.35683 83.8335 6.17684 0.274624 3.35683 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30276 8506 832 302 1602 0 14618 3456 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Genomes GG 255 Pass . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon12:c.1421_1422insCC:p.P474fs MST1:uc003cxg.3:exon12:c.1421_1422insCC:p.P474fs MST1:NM_020998:exon12:c.1421_1422insCC:p.P474fs . . 0.12990937 . . . 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs10681572 rs10681572 1 1538 10 1.I 0,5,89 +. 3 49722905 T TGG - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 duplication frameshift exon GRCh37 49722905 49722906 Chr3(GRCh37):g.49722906_49722907dup 1420 1421 NM_020998.3:c.1420_1421dup p.Asp475Glnfs*52 p.Asp475Glnfs*52 12 142408 -2 5' 85.1056 6.25325 0.960209 1.54172 85.1056 6.25325 0.960209 2.19432 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30276 8506 832 302 1602 0 14618 3456 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Genomes CC 255 Pass . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon12:c.1421_1422insCC:p.P474fs MST1:uc003cxg.3:exon12:c.1421_1422insCC:p.P474fs MST1:NM_020998:exon12:c.1421_1422insCC:p.P474fs . . 0.12990937 . . . 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs10681572 rs10681572 1 1538 10 1.I 0,5,89 +rs9713630 3 49723144 C T - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution synonymous exon GRCh37 49723144 49723144 Chr3(GRCh37):g.49723144C>T 1272 1272 NM_020998.3:c.1272G>A p.Pro424= p.Pro424Pro 11 142408 22 3' 75.4141 7.43053 0.974586 9.59966 75.4141 7.43053 0.974586 9.30335 0 Kringle rs9713630 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000029 1 0 1 0 0 0 0 0 0 275536 23892 34330 10106 18782 30682 125588 25716 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -2.781 P Pro CCG 0.115 P Pro CCA 0.274 424 174 PASS . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon11:c.G1272A:p.P424P MST1:uc011bcs.1:exon10:c.G1388A:p.R463H MST1:NM_020998:exon11:c.G1272A:p.P424P . . 0.10051546 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 388.0 . . . . . . . . . . -0.3971 . . . . . . . . 6.869e-04 . . . 0.0003 0.0002 8.675e-05 0 0 0.0003 0 0.0001 0 7.586e-05 8.933e-05 0 0.0002 7.42e-05 0 0.0001 synonymous_SNV nonsynonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.46 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs9713630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.084e-06 2.986e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs9713630 rs9713630 rs9713630 rs9713630 1 1538 10 1/0 0,167,255 +rs9714011 3 49723167 T G - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution splice site GRCh37 49723167 49723167 Chr3(GRCh37):g.49723167T>G 1251-2 1251-2 NM_020998.3:c.1251-2A>C p.? p.? 11 10 142408 -2 3' 75.4141 7.43053 0.974586 9.59966 0 0 0 0 -1 rs9714011 yes no Frequency 1 T 0.000000 0 0.000011 0.000042 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000042 3 1 0 0 0 0 2 0 0 273066 23774 33930 10072 18724 30546 124110 25524 6386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM1286289 Autonomic ganglia 0.001305 766 transversion A C A>C 0.992 1.577 223 PASS . . . . . . . . . . . . . . . . 0.22018349 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.377 . @ . . . . . 0 0.139 . . 436.0 . . . . . . . . . . 0.5503 0.330 0.550 c . . . . . 4.612e-03 . . . 0.0022 0.0035 0.0048 0.0011 0.0026 0.0036 0.0028 0.0038 0.0014 0.0028 0.0044 0.0020 0.0040 0.0025 0.0029 0.0038 . . . . . . splicing splicing splicing . . 0.464 @ . . . 0.53 0.49 182 ENSG00000173531 MST1 MST1 . . NM_020998:exon11:c.1251-2A>C 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . 0.170 . . . HET . rs9714011 . . . . . . . . . . . . V.02 . ENST00000449682 V.22 4.VI . . . 0.9999 0.908 . . . 0.437 . . 4.VI 6.591e-05 1.236e-05 0 0 0 0 1.826e-05 0 0 0 0 0 0 0 0 0 0 . . 0.033 . 0.825 0.825000 . . . . . 1.0E-223 0.998 0.411 . 0.137 0.014 . 0.481 . 0.192 0.825 0.084 . rs9714011 rs9714011 rs9714011 rs9714011 1 1538 10 1/0 0,173,234 +rs9714343 3 49723174 A G - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution intron GRCh37 49723174 49723174 Chr3(GRCh37):g.49723174A>G 1251-9 1251-9 NM_020998.3:c.1251-9T>C p.? p.? 11 10 142408 -9 3' 75.4141 7.43053 0.974586 9.59966 72.7022 7.43775 0.956226 9.04407 -0.0179423 rs9714343 yes no Frequency 1 A 0.000000 0 0.000034 0.000043 0.000000 0.000000 0.000000 0.000100 0.000033 0.000040 0.000000 0.000100 9 1 0 0 0 3 4 1 0 268096 23446 33204 9990 18472 30150 121496 25058 6280 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 0 3 4 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4325075 Haematopoietic and lymphoid tissue 0.000567 3530 transition T C T>C 0.000 -0.440 229 PASS . . . . . . . . . . . . . . . . 0.2397541 . . @ 117 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 488.0 . . . . . . . . . . 0.1822 . . . . . . . . 4.636e-03 . . . 0.0018 0.0035 0.0052 0.0014 0.0024 0.0038 0.0029 0.0039 0.0012 0.0029 0.0048 0.0021 0.0039 0.0025 0.0029 0.0039 . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.47 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9714343 . . . . . . . . . . . . . . . . . . . . 0.0001 0.004 . . . . . . . 6.668e-05 3.354e-05 0 0 0 0 3.728e-05 0 9.95e-05 0 3.383e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs9714343 rs9714343 rs9714343 rs9714343 1 1538 10 1/0 0,170,226 +rs201002737 3 49723234 C T - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution intron GRCh37 49723234 49723234 Chr3(GRCh37):g.49723234C>T 1250+59 1250+59 NM_020998.3:c.1250+59G>A p.? p.? 10 10 142408 59 5' 71.5327 7.394 0.918713 9.77278 71.5327 7.394 0.918713 IX.34 0 rs201002737 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 -0.117 201 PASS . . . . . . . . . . . . . . . . 0.15966387 . . @ 114 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 714.0 . . . . . . . . . . 0.2094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.44 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201002737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs201002737 rs201002737 1 1538 10 1/0 0,146,229 +rs6777426 3 49723881 G C - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution missense exon GRCh37 49723881 49723881 Chr3(GRCh37):g.49723881G>C 881 881 NM_020998.3:c.881C>G p.Thr294Ser p.Thr294Ser 8 142408 34 3' 71.6176 5.0427 0.044749 0 71.6176 5.0427 0.044749 0 0 rs6777426 yes no Frequency 1 G 0.000000 0 0.000886 0.001026 0.000380 0.000118 0.000527 0.003118 0.000559 0.001204 0.000532 0.003118 219 22 11 1 9 79 65 29 3 247172 21436 28932 8460 17086 25334 116188 24096 5640 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 219 22 11 1 9 79 65 29 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM221994|COSM221994|COSM221994|COSM221994|COSM221994 Urinary tract|Thyroid|Skin|Lung|Haematopoietic and lymphoid tissue 0.002976|0.005355|0.000812|0.000776|0.000850 672|747|1232|2576|3530 transversion C G C>G 0.874 3.757 T Thr ACT 0.243 S Ser AGT 0.149 294 11 8 Opossum 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 103.68 0.00 Tolerated 0.19 IV.32 good 8.576E-1 0.008523 198 PASS . . . . . . . . . . . . . MST1:NM_020998:exon8:c.C881G:p.T294S . . 0.15311004 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.347 . @ . . . . . 1 0.312 . . 209.0 . . . . . . . . . . -0.0940 0.040 -0.094 c . . . . . 5.707e-03 . . . 0.0071 0.0035 0.0015 0.0002 0.0019 0.0028 0.0075 0.0062 0.0065 0.0027 0.0014 0.0001 0.0042 0.0015 0.0047 0.0062 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.878 . . exonic exonic exonic . . 0.598 @ . . . 0.41 0.41 182 ENSG00000173531 MST1 MST1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.210 . . . . D 0.553 0.034 . . 37 . 0.804 . . 0.764 . . . 0.356 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.368 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 1 0.157 . . . . . 0.675 . 0.420 . HET 0.26 rs6777426 . . . . . . . . . . . . 14.5452 0.0 . V.67 IV.75 . 0.060000 . . . . . . 0.540 . . IV.75 0.0004 0.0009 0.0004 0.0001 0.0004 0.0014 0.0006 0.0006 0.0031 0.0023 0.0008 0 0 0.0024 0 0.0002 0 . . 0.994 . 2.673 2.673000 . . 0.060000 . . 1.0E-198 1.000 0.715 . 0.214 0.003 . 0.551 . 0.539 2.673 0.917 . rs6777426 rs6777426 rs6777426 rs6777426 1 1538 10 1/0 0,199,255 +rs200815465 3 49724986 T C - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution splice site GRCh37 49724986 49724986 Chr3(GRCh37):g.49724986T>C 355+3 355+3 NM_020998.3:c.355+3A>G p.? p.? 3 3 142408 3 5' 99.7688 0 0 0 88.2735 0 0 0 -0.115219 rs200815465 yes no Frequency/1000G 2 T 0.000000 0 0.004792 0.006100 0.005100 0.000000 0.002000 0.013000 0.000087 0.000066 0.000061 0.000103 0.000000 0.000000 0.000136 0.000000 0.000372 0.000136 21 1 2 1 0 0 15 0 2 242436 15102 32692 9674 17162 30346 110016 22064 5380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 2 1 0 0 15 0 2 0 0 0 0 0 0 0 0 0 RF 104 Exomes transition A G A>G 0.000 -1.247 197 PASS . . . . . 0.0061 0.0048 0.013 . 0.002 0.0051 . . . . . 0.15081967 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 305.0 . . . . . . . . . . -0.1507 . . . . . . . . 5.685e-04 . . . 0.0005 0.0001 0 0 0.0003 0.0001 0.0014 6.078e-05 0.0004 0.0001 0 0.0001 0.0006 5.559e-05 0.0015 6.111e-05 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.25 0.34 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0.16 rs200815465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.622e-05 8.662e-05 6.118e-05 0.0001 0 0 0.0001 0.0004 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs200815465 rs200815465 1 1538 10 1/0 0,183,255 +rs200815465 3 49724986 T C - RNF123 21148 Ring finger protein 123 NM_022064.4 1 4313 3945 NP_071347.2 Q5XPI4 substitution upstream GRCh37 49724986 49724986 Chr3(GRCh37):g.49724986T>C -2090 -2090 NM_022064.4:c.-2090T>C p.? p.? 1 614472 -2054 5' 86.6769 9.89081 0.969113 X.22 86.6769 9.89081 0.969113 X.22 0 rs200815465 yes no Frequency/1000G 2 T 0.000000 0 0.004792 0.006100 0.005100 0.000000 0.002000 0.013000 0.000087 0.000066 0.000061 0.000103 0.000000 0.000000 0.000136 0.000000 0.000372 0.000136 21 1 2 1 0 0 15 0 2 242436 15102 32692 9674 17162 30346 110016 22064 5380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 2 1 0 0 15 0 2 0 0 0 0 0 0 0 0 0 RF 104 Exomes transition T C T>C 0.000 -1.247 197 PASS . . . . . 0.0061 0.0048 0.013 . 0.002 0.0051 . . . . . 0.15081967 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 305.0 . . . . . . . . . . -0.1507 . . . . . . . . 5.685e-04 . . . 0.0005 0.0001 0 0 0.0003 0.0001 0.0014 6.078e-05 0.0004 0.0001 0 0.0001 0.0006 5.559e-05 0.0015 6.111e-05 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.25 0.34 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0.16 rs200815465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.622e-05 8.662e-05 6.118e-05 0.0001 0 0 0.0001 0.0004 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs200815465 rs200815465 1 1538 10 1/0 0,183,255 +rs146225272 3 49738973 C T - RNF123 21148 Ring finger protein 123 NM_022064.4 1 4313 3945 NP_071347.2 Q5XPI4 substitution missense exon GRCh37 49738973 49738973 Chr3(GRCh37):g.49738973C>T 1327 1327 NM_022064.4:c.1327C>T p.Arg443Cys p.Arg443Cys 16 614472 50 3' 71.1349 3.00866 0.038642 0 71.1349 3.00866 0.038642 0 0 Cryptic Donor Strongly Activated 49738971 53.834 1.33289 0.003904 63.9347 rs146225272 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000672 0.000125 0.000058 0.001184 0.000106 0.000195 0.001060 0.000737 0.001237 0.001184 186 3 2 12 2 6 134 19 8 276800 23984 34404 10132 18862 30778 126382 25792 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 3 2 12 2 6 134 19 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 52 transition C T C>T 1.000 2.142 R Arg CGT 0.082 C Cys TGT 0.448 443 12 8 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0.0005 0.0028 . . . 0.0004 0.0014 . 0.001 . . . RNF123:NM_022064:exon16:c.C1327T:p.R443C . . 0.4642857 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.953 . @ . . . . . 1 0.997 . . 112.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R443C|RNF123|mRNA|CODING|NM_022064|NM_022064.ex.16) . 0.0008 0.0012 . 0.0008 0.0012 . 0.4762 0.502 0.476 c . . . . . 6.867e-04 . . . 0 0.0006 8.66e-05 0 0.0011 0.0012 0.0014 0.0001 0 0.0007 8.919e-05 0 0.0011 0.0011 0.0029 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.775 . . exonic exonic exonic . . 0.836 0.0004 . . . 0.4 0.37 182 ENSG00000164068 RNF123 RNF123 . . . 1.000 0.747 . 36 0.000554051 64976 34 0.000566799 59986 Uncertain_significance . 0 . 0.429 . . . . D 0.874 0.213 . . 37 . 0.788 . . 0.800 . . . 0.263 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.364 . . 0 0 0 0 0 0 . 0.899 . . 0.797 . . . . . . 0 0.721 . . . . . 0.607 . 0.917 . HET 0 rs146225272 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 13.4866 0.0 . V.56 V.56 . 0.060000 . . . Name\x3dnsv508217 0.000769 . 0.522 . . V.56 6.554e-05 0.0006 2.979e-05 0.0012 5.8e-05 0.0008 0.0010 0.0013 0.0002 0.0002 0.0009 0.0012 0 0.0006 0.0006 0.0015 0.0010 . . 0.998 . 2.618 2.618000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.387 0.997 . 0.419 . 0.445 2.618 0.871 0.0028 . . rs146225272 rs146225272 1 1538 10 1/0 0,253,255 +rs7433231 (chr3:49928691 T/C) 3 49928691 T C Transcript NM_002447.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) MST1R +rs782617634 3 50332357 G A - HYAL3 5322 Hyaluronoglucosaminidase 3 NM_001200029.1 -1 1731 1254 NP_001186958.1 O43820 substitution missense exon GRCh37 50332357 50332357 Chr3(GRCh37):g.50332357G>A 677 677 NM_001200029.1:c.677C>T p.Ala226Val p.Ala226Val 2 604038 -218 5' 100 X.83 0.997689 XII.08 100 X.83 0.997689 XII.08 0 Hyaluronidase Glycoside hydrolase, superfamily rs782617634 yes no Frequency 1 G 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000027 3 0 0 0 0 0 3 0 0 241780 15278 33266 9406 17224 30006 109256 21966 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes transition C T C>T 0.000 0.448 A Ala GCC 0.403 V Val GTC 0.240 226 12 6 Horse 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 149.53 0.00 Tolerated 0.27 II.98 good 9.029E-1 0.1311 255 PASS . . . . . . . . . . . . . . . . 0.5487805 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.209 . @ . . . . . 1 0.370 . . 164.0 . . . . . . . . . . -0.5256 -0.451 -0.526 c . . . . . 1.579e-05 . . . . . . . . . . . 0 1.995e-05 0 0 0 3.797e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.239 . . exonic exonic exonic . . 0.376 @ . . . . . . ENSG00000186792 HYAL3 HYAL3 . . . 1.000 0.439 . . . . . . . Uncertain_significance . 0 . 0.111 . . . . T 0.104 0.004 . . 37 . 0.205 . . 0.179 . . . 0.336 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.342 . . 0 0 0 0 0 0 . 0.167 . . 0.127 . . . . . . 11 0.082 . . . . . 0.202 . 0.107 . HET 0.15 rs782617634 . . . . . . . . . . . . VI.64 . . V.26 III.38 . 0.190000 . . . . . . 0.190 . . III.38 0 1.241e-05 0 0 0 0 2.746e-05 0 0 . . . . . . . . . . 0.495 . 1.146 1.146000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.288 0.035 . 0.118 . 0.669 1.146 0.069 . . . . . 1 1538 10 1/0 0,240,251 +rs782617634 3 50332357 G A - NAT6 30252 N-acetyltransferase 6 (GCN5-related) NM_012191.3 -1 1335 927 NP_036323.2 substitution downstream GRCh37 50332357 50332357 Chr3(GRCh37):g.50332357G>A *1677 *1677 NM_012191.3:c.*1677C>T p.? p.? 2 607073 2602 3' 71.2483 5.08292 0.293043 2.27291 71.2483 5.08292 0.293043 2.27291 0 rs782617634 yes no Frequency 1 G 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000027 3 0 0 0 0 0 3 0 0 241780 15278 33266 9406 17224 30006 109256 21966 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes transition C T C>T 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.5487805 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.209 . @ . . . . . 1 0.370 . . 164.0 . . . . . . . . . . -0.5256 -0.451 -0.526 c . . . . . 1.579e-05 . . . . . . . . . . . 0 1.995e-05 0 0 0 3.797e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.239 . . exonic exonic exonic . . 0.376 @ . . . . . . ENSG00000186792 HYAL3 HYAL3 . . . 1.000 0.439 . . . . . . . Uncertain_significance . 0 . 0.111 . . . . T 0.104 0.004 . . 37 . 0.205 . . 0.179 . . . 0.336 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.342 . . 0 0 0 0 0 0 . 0.167 . . 0.127 . . . . . . 11 0.082 . . . . . 0.202 . 0.107 . HET 0.15 rs782617634 . . . . . . . . . . . . VI.64 . . V.26 III.38 . 0.190000 . . . . . . 0.190 . . III.38 0 1.241e-05 0 0 0 0 2.746e-05 0 0 . . . . . . . . . . 0.495 . 1.146 1.146000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.288 0.035 . 0.118 . 0.669 1.146 0.069 . . . . . 1 1538 10 1/0 0,240,251 +rs150385433 (chr3:51458204 G/A) 3 51458204 G A Not on a known gene +rs749860780 3 52559171 G C - NT5DC2 25717 5'-nucleotidase domain containing 2 NM_001134231.1 -1 1815 1674 NP_001127703.1 substitution intron GRCh37 52559171 52559171 Chr3(GRCh37):g.52559171G>C 1207-52 1207-52 NM_001134231.1:c.1207-52C>G p.? p.? 12 11 -52 3' 73.7399 7.73982 0.109984 VII.53 73.7399 7.73982 0.109984 7.51912 0 rs749860780 yes no Frequency 1 G 0.000000 0 0.000663 0.006995 0.000688 0.000238 0.000000 0.000000 0.000156 0.000097 0.000000 0.006995 71 50 12 1 0 0 7 1 0 107018 7148 17436 4210 9296 10776 44976 10314 2862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 50 12 1 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.286 212 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.4504 . . . . . . . . 1.308e-03 . . . 0.0476 0.0054 0.02 0 0 0 0 0 0.0472 0.0043 0.0208 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000168268 NT5DC2 NT5DC2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs749860780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0005 0.0007 0.0002 0 0.0001 0.0002 0 0 0.0072 0.0014 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749860780 3 52559171 G C - STAB1 18628 Stabilin 1 NM_015136.2 1 7926 7713 NP_055951.2 Q9NY15 substitution downstream GRCh37 52559171 52559171 Chr3(GRCh37):g.52559171G>C *799 *799 NM_015136.2:c.*799G>C p.? p.? 69 608560 856 3' 81.9824 8.62695 0.866726 10.524 81.9824 8.62695 0.866726 10.524 0 rs749860780 yes no Frequency 1 G 0.000000 0 0.000663 0.006995 0.000688 0.000238 0.000000 0.000000 0.000156 0.000097 0.000000 0.006995 71 50 12 1 0 0 7 1 0 107018 7148 17436 4210 9296 10776 44976 10314 2862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 50 12 1 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 0.286 212 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.4504 . . . . . . . . 1.308e-03 . . . 0.0476 0.0054 0.02 0 0 0 0 0 0.0472 0.0043 0.0208 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000168268 NT5DC2 NT5DC2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs749860780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0005 0.0007 0.0002 0 0.0001 0.0002 0 0 0.0072 0.0014 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs766176768 3 52623286 T A - PBRM1 30064 Polybromo 1 ENST00000296302.8 -1 5145 5070 ENSP00000296302 Q86U86 substitution intron GRCh37 52623286 52623286 Chr3(GRCh37):g.52623286T>A 2780-15 2780-15 ENST00000296302.8:c.2780-15A>T p.? p.? 18 17 606083 -15 3' 82.7069 2.1321 0.43761 8.12007 82.7069 2.66875 0.731277 9.97165 0.30759 Cryptic Acceptor Strongly Activated 52623271 2.1321 0.43761 82.7069 2.66875 0.731277 82.7069 52623286 -69.238 transversion A T A>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||PBRM1|mRNA|CODING|NM_018313|) . . . . . . . -0.1918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000163939 PBRM1 PBRM1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs550157613 3 52886559 C T - TMEM110 30526 Transmembrane protein 110 NM_198563.2 -1 4754 885 NP_940965.1 Q86TL2 substitution intron GRCh37 52886559 52886559 Chr3(GRCh37):g.52886559C>T 305+60 305+60 NM_198563.2:c.305+60G>A p.? p.? 3 3 617189 60 5' 78.1641 8.59132 0.961031 4.47951 78.1641 8.59132 0.961031 4.31402 0 rs550157613 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000387 0.000000 0.000000 0.009934 0.000000 0.000000 0.000600 0.000000 0.000000 0.009934 12 0 0 3 0 0 9 0 0 30970 8728 838 302 1622 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 3 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -0.602 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.42307693 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 64 0.000984979 64976 63 0.00105025 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550157613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0.0099 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs550157613 3 52886559 C T - TMEM110-MUSTN1 38834 TMEM110-MUSTN1 readthrough NM_001198974.2 -1 1459 1119 NP_001185903.2 substitution intron GRCh37 52886559 52886559 Chr3(GRCh37):g.52886559C>T 305+60 305+60 NM_001198974.2:c.305+60G>A p.? p.? 3 3 60 5' 78.1641 8.59132 0.961031 4.47951 78.1641 8.59132 0.961031 4.31402 0 rs550157613 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000387 0.000000 0.000000 0.009934 0.000000 0.000000 0.000600 0.000000 0.000000 0.009934 12 0 0 3 0 0 9 0 0 30970 8728 838 302 1622 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 3 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -0.602 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.42307693 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 64 0.000984979 64976 63 0.00105025 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550157613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0.0099 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs372629606 3 53221314 C T - PRKCD 9399 Protein kinase C delta NM_001354676.1 1 2656 2088 NP_001341605.1 substitution intron GRCh37 53221314 53221314 Chr3(GRCh37):g.53221314C>T 1410-42 1410-42 NM_001354676.1:c.1410-42C>T p.? p.? 14 13 176977 -42 3' 88.6341 9.64087 0.928594 10.1583 88.6341 9.64087 0.928594 X.32 0 rs372629606 yes no Frequency 1 C 0.000000 0 0.000097 0.000083 0.000058 0.000000 0.000000 0.000000 0.000182 0.000000 0.000000 0.000182 27 2 2 0 0 0 23 0 0 277144 24024 34420 10150 18866 30780 126648 25792 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 2 2 0 0 0 23 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4405 13005 0 1 1 0 0.000226963 7.68876e-05 0 0.000226963 7.68876e-05 80 transition C T C>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.47252747 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.1812 . . . . . . . . 1.184e-04 . . . 9.636e-05 0.0001 8.648e-05 0 0 0.0002 0 0 0 9.417e-05 8.917e-05 0 0 0.0002 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.35 182 ENSG00000163932 PRKCD PRKCD . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 6.537e-05 0.0001 5.956e-05 0 0 0 0.0002 0 0 0.0001 3.231e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs372629606 rs372629606 1 1538 10 1/0 0,255,255 +rs34974961 3 53853009 T C - CHDH 24288 Choline dehydrogenase NM_018397.4 -1 3706 1785 NP_060867.2 Q8NE62 substitution missense exon GRCh37 53853009 53853009 Chr3(GRCh37):g.53853009T>C 1322 1322 NM_018397.4:c.1322A>G p.Asn441Ser p.Asn441Ser 8 -45 5' 76.822 8.17044 0.925223 6.48965 76.822 8.17044 0.925223 6.14717 0 Glucose-methanol-choline oxidoreductase, C-terminal Glucose-methanol-choline oxidoreductase rs34974961 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.001000 0.000000 0.009900 0.010100 0.007115 0.001956 0.009966 0.001675 0.000000 0.002307 0.010626 0.002870 0.011448 0.010626 1972 47 343 17 0 71 1346 74 74 277156 24024 34416 10150 18868 30780 126670 25784 6464 0.000144 0.000000 0.000174 0.000000 0.000000 0.000065 0.000205 0.000000 0.000928 20 0 3 0 0 1 13 0 3 1932 47 337 17 0 69 1320 74 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8496 4395 12891 104 11 115 0.012093 0.0024966 0.00884207 0.012093 0.0024966 0.00884207 188 transition A G A>G 1.000 2.385 N Asn AAT 0.464 S Ser AGT 0.149 441 20 11 Fruitfly 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.11 III.48 255 PASS . 0.0037 0.01 . 0.004 . 0.0036 0.01 . 0.0099 0.001 ENSG00000016391:ENST00000315251:exon8:c.A1322G:p.N441S CHDH:uc003dgz.3:exon8:c.A1322G:p.N441S CHDH:NM_018397:exon8:c.A1322G:p.N441S . . 0.44444445 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.395 . @ . . . . . 1 0.521 . . 99.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N441S|CHDH|mRNA|CODING|NM_018397|NM_018397.ex.8) 0.0025 0.0088 0.012 0.0025 0.0088 0.012 . -0.2794 -0.081 -0.279 c . . . . . 6.448e-03 . . . 0.0016 0.0070 0.0089 0 0.0021 0.0111 0.0112 0.0019 0.0014 0.0062 0.0088 0 0.0027 0.0091 0.0072 0.0019 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . 0.570 0.0036 . . . 0.45 0.51 182 ENSG00000016391 CHDH CHDH . . . 1.000 0.747 . 862 0.0132664 64976 845 0.0140866 59986 Uncertain_significance . 0 . 0.418 . . . . . . . . . 37 . 0.227 . . 0.195 . . . 0.357 0.353 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.156 . . 0.230 . . . . . . 0 0.437 . . . . . 0.345 . 0.001 . HET 0.02 rs34974961 . . . . . . . 0.003663003663003663 0.0 0.013812154696132596 0.0 0.00395778364116095 VIII.75 0.002675 ENST00000315251 V.78 IV.63 . 0.010000 Q8NE62 . . . 0.008842 . 0.534 . . IV.63 0.0016 0.0073 0.0101 0.0017 0 0.0030 0.0109 0.0126 0.0023 0.0026 0.0053 0.0048 0 0 0.0020 0.0083 0.0051 . . 0.730 . 1.032 1.032000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.494 0.901 . 0.677 . 0.236 1.032 0.991 0.012 rs34974961 rs34974961 rs34974961 rs34974961 1 1538 10 1/0 0,255,255 +rs79160483 3 54420721 G T - CACNA2D3 15460 Calcium channel, voltage-dependent, alpha 2/delta subunit 3 NM_018398.2 1 3675 3276 NP_060868.2 Q8IZS8 substitution intron GRCh37 54420721 54420721 Chr3(GRCh37):g.54420721G>T 322-21 322-21 NM_018398.2:c.322-21G>T p.? p.? 4 3 606399 -21 3' 88.0648 XI.36 0.996017 13.0621 88.0648 XI.36 0.996645 13.7554 0.00021017 rs79160483 no no 0 G 0.000000 0 transversion G T G>T 0.858 -0.198 190 PASS . . . . . . . . . . . . . . . . 0.13513513 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||CACNA2D3|mRNA|CODING|NM_018398|) . . . . . . . 0.4578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.28 182 ENSG00000157445 CACNA2D3 CACNA2D3 . . . . . . 82 0.001262 64976 82 0.00136699 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs79160483 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv517851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . rs79160483 rs79160483 1 1538 10 1.I 0,0,0 +rs73079892 3 56591298 T A - CCDC66 27709 Coiled-coil domain containing 66 NM_001353147.1 1 3171 2865 NP_001340076.1 substitution intron GRCh37 56591298 56591298 Chr3(GRCh37):g.56591298T>A 11+17 11+17 NM_001353147.1:c.11+17T>A p.? p.? 1 1 17 5' 82.206 7.78959 0.993799 4.60572 82.206 7.78959 0.993799 4.50263 0 rs73079892 yes no Frequency/1000G 2 0.000000 0 0.000059 0.000065 0.000000 0.000000 0.000265 0.000136 0.000045 0.000000 0.000000 0.000265 10 1 0 0 3 3 3 0 0 169710 15446 23900 8208 11318 22126 66888 17254 4570 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 1 0 0 3 3 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.039 -0.037 229 PASS 0.23 0.2 0.18 0.13 0.24 . . . . . . . . . . . 0.23888889 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . 0.8536 . . . . . . . . 1.542e-03 . . . 0 5.233e-05 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.39 182 ENSG00000180376 CCDC66 CCDC66 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73079892 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv876817 . . . . . . 0 6.405e-05 0 0 0.0003 0 5.687e-05 0 0.0001 0.0001 3.426e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . 0.24 . rs73079892 rs73079892 rs73079892 1 1538 10 1/0 0,213,255 +rs144848139 3 56655621 A G - CCDC66 27709 Coiled-coil domain containing 66 NM_001353147.1 1 3171 2865 NP_001340076.1 substitution missense exon GRCh37 56655621 56655621 Chr3(GRCh37):g.56655621A>G 2840 2840 NM_001353147.1:c.2840A>G p.Glu947Gly p.Glu947Gly 18 62 3' 79.5921 4.70246 0.499339 0 79.5921 4.70246 0.499339 0 0 rs144848139 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001870 0.000629 0.001080 0.002134 0.000000 0.000680 0.003179 0.000078 0.002252 0.003179 501 15 34 21 0 19 396 2 14 267910 23840 31480 9842 18360 27942 124578 25650 6218 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 495 15 34 21 0 19 390 2 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4401 12966 35 5 40 0.00406977 0.00113482 0.0030755 0.00406977 0.00113482 0.0030755 128 transition A G A>G 1.000 1.820 E Glu GAA 0.417 G Gly GGA 0.246 947 12 9 Chicken -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Deleterious 0 III.69 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 . . . . . 0.42307693 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.568 . @ . . . . . 1 0.956 . . 52.0 . . . 0.0011 0.0031 0.0041 0.0011 0.0031 0.0041 . 0.6019 0.560 0.602 c . . . . . 1.879e-03 . . . 0.0009 0.0019 0.0010 0 0.0003 0.0033 0.0014 0.0009 0.0010 0.0018 0.0011 0 0.0002 0.0029 0.0014 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.769 0.0006 . . . 0.43 0.55 182 ENSG00000180376 CCDC66 CCDC66 . . . 0.352 0.197 . 178 0.00273947 64976 175 0.00291735 59986 Uncertain_significance . 0 . 0.111 . . . . T 0.436 0.021 . . 37 . 0.556 . . 0.523 . . . 0.618 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.480 . . 0 0 0 0 0 0 . 0.629 . . 0.662 . . . . . . 0 0.654 . . . . . 0.451 . 0.520 . HET 0 rs144848139 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 X.33 0.00107 . V.37 V.37 . 0.010000 A2RUB6 . . Name\x3dnsv460557 0.003076 . 0.839 . . V.37 0.0007 0.0019 0.0010 0.0019 0 4.513e-05 0.0032 0.0025 0.0007 0.0005 0.0018 0.0036 0.0099 0 0.0003 0.0029 0.0010 . . 0.924 . 2.155 2.155000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.663 . 0.960 2.155 1.062 0.0041 . . rs144848139 rs144848139 1 1538 10 1/0 0,255,255 +rs144848139 3 56655621 A G - FAM208A 30314 Family with sequence similarity 208, member A NM_001112736.1 -1 8296 4539 NP_001106207.1 substitution 3'UTR GRCh37 56655621 56655621 Chr3(GRCh37):g.56655621A>G *2195 *2195 NM_001112736.1:c.*2195T>C p.? p.? 24 616493 2251 3' 69.9839 3.84484 0.114302 0 69.9839 3.84484 0.114302 0 0 rs144848139 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001870 0.000629 0.001080 0.002134 0.000000 0.000680 0.003179 0.000078 0.002252 0.003179 501 15 34 21 0 19 396 2 14 267910 23840 31480 9842 18360 27942 124578 25650 6218 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 495 15 34 21 0 19 390 2 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4401 12966 35 5 40 0.00406977 0.00113482 0.0030755 0.00406977 0.00113482 0.0030755 128 transition T C T>C 1.000 1.820 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 . . . . . 0.42307693 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.568 . @ . . . . . 1 0.956 . . 52.0 . . . 0.0011 0.0031 0.0041 0.0011 0.0031 0.0041 . 0.6019 0.560 0.602 c . . . . . 1.879e-03 . . . 0.0009 0.0019 0.0010 0 0.0003 0.0033 0.0014 0.0009 0.0010 0.0018 0.0011 0 0.0002 0.0029 0.0014 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.769 0.0006 . . . 0.43 0.55 182 ENSG00000180376 CCDC66 CCDC66 . . . 0.352 0.197 . 178 0.00273947 64976 175 0.00291735 59986 Uncertain_significance . 0 . 0.111 . . . . T 0.436 0.021 . . 37 . 0.556 . . 0.523 . . . 0.618 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.480 . . 0 0 0 0 0 0 . 0.629 . . 0.662 . . . . . . 0 0.654 . . . . . 0.451 . 0.520 . HET 0 rs144848139 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 X.33 0.00107 . V.37 V.37 . 0.010000 A2RUB6 . . Name\x3dnsv460557 0.003076 . 0.839 . . V.37 0.0007 0.0019 0.0010 0.0019 0 4.513e-05 0.0032 0.0025 0.0007 0.0005 0.0018 0.0036 0.0099 0 0.0003 0.0029 0.0010 . . 0.924 . 2.155 2.155000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.663 . 0.960 2.155 1.062 0.0041 . . rs144848139 rs144848139 1 1538 10 1/0 0,255,255 +. 3 58395497 T TTG - PXK 23326 PX domain containing serine/threonine kinase like NM_001349492.1 1 3037 1746 NP_001336421.1 insertion intron GRCh37 58395497 58395498 Chr3(GRCh37):g.58395497_58395498insTG 1395+152 1395+153 NM_001349492.1:c.1395+152_1395+153insTG p.? p.? 15 15 611450 152 5' 93.9148 X.81 0.998884 5.10893 93.9148 X.81 0.998884 5.10893 0 rs34721541 no no 0 0.000000 0 0.000956 0.000519 0.000000 0.000000 0.000000 0.000000 0.001372 0.000000 0.007813 0.001372 4 1 0 0 0 0 2 0 1 4182 1928 142 28 114 0 1458 384 128 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 297 Genomes TG 255 Pass . . . . . . . . . . . . . . . . 0.89361703 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000168297 PXK PXK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs34721541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0010 0 0 0 0 0.0014 0.0078 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs34721541 rs34721541 1 1538 10 1.I 0,4,5 +rs74477836 3 58395501 G A - PXK 23326 PX domain containing serine/threonine kinase like NM_001349492.1 1 3037 1746 NP_001336421.1 substitution intron GRCh37 58395501 58395501 Chr3(GRCh37):g.58395501G>A 1395+156 1395+156 NM_001349492.1:c.1395+156G>A p.? p.? 15 15 611450 156 5' 93.9148 X.81 0.998884 5.10893 93.9148 X.81 0.998884 5.10893 0 rs74477836 no no 0 G 0.000000 0 0.000035 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000118 1 1 0 0 0 0 0 0 0 28642 8508 784 246 1596 0 13508 3146 854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition G A G>A 0.031 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.8490566 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.6367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.21 182 ENSG00000168297 PXK PXK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74477836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.491e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74477836 rs74477836 1 1538 10 1/0 0,255,255 +. 3 62355667 T TT - FEZF2 13506 FEZ family zinc finger 2 NM_018008.3 -1 2086 1380 NP_060478.3 Q8TBJ5 duplication 3'UTR GRCh37 62355666 62355667 Chr3(GRCh37):g.62355667dup *91 *91 NM_018008.3:c.*91dup p.? p.? 5 607414 351 3' 83.8285 9.00067 0.913681 VIII.19 83.8285 9.00067 0.913681 VIII.19 0 rs3215030 yes no Frequency/1000G 2 0.000000 0 0.358446 0.132373 0.487685 0.422819 0.422886 0.000000 0.455685 0.429804 0.420668 0.487685 10924 1149 396 126 680 0 6725 1445 403 30476 8680 812 298 1608 0 14758 3362 958 0.201208 0.062663 0.242424 0.222222 0.195588 0.000000 0.222156 0.204152 0.198511 2198 72 96 28 133 0 1494 295 80 6523 1004 203 70 413 0 3735 855 243 0 0 0 0 0 0 0 0 0 PASS 42 Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.95348835 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . UTR_3_PRIME(MODIFIER||||FEZF2|mRNA|CODING|NM_018008|NM_018008.ex.5) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000153266 FEZF2 FEZF2 . . NM_018008:c.*90_*91insA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs147327086 3 69047210 G A - EOGT 28526 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase NM_001278689.1 -1 4666 1584 NP_001265618.1 Q5NDL2 substitution synonymous exon GRCh37 69047210 69047210 Chr3(GRCh37):g.69047210G>A 783 783 NM_001278689.1:c.783C>T p.His261= p.His261His 10 614789 -49 5' 77.468 X.54 0.935197 0 77.468 X.54 0.935197 0 0 Glycosyltransferase AER61, uncharacterised rs147327086 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.002396 0.000000 0.007200 0.000000 0.004000 0.001400 0.004449 0.001098 0.002619 0.001699 0.000055 0.013525 0.005034 0.001207 0.003876 0.013525 1194 26 82 17 1 385 628 31 24 268370 23678 31308 10008 18294 28466 124746 25678 6192 0.000030 0.000000 0.000000 0.000000 0.000000 0.000281 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 1186 26 82 17 1 377 628 31 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8563 4406 12969 37 0 37 0.00430233 0 0.00284484 0.00430233 0 0.00284484 151 RCV000421563.1 germline clinical testing Likely benign 1 not provided COSM1243133 Oesophagus 0.000712 1405 transition C T C>T 0.480 0.205 H His CAC 0.587 H His CAT 0.413 261 255 PASS . 0.0014 . . 0.004 . 0.0024 0.0014 . 0.004 0.0072 . . . . . 0.42647058 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . 0.0028 0.0043 . 0.0028 0.0043 . 0.5554 . . . . . . . . 5.146e-03 . . . 0.0007 0.0062 0.0037 0.0002 0.0011 0.0060 0.0042 0.0150 0.0006 0.0054 0.0037 0.0001 0.0012 0.0050 0.0029 0.0151 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.35 0.24 182 ENSG00000163378 EOGT EOGT . . . . . . 338 0.00520192 64976 326 0.0054346 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs147327086 . . . . . . ID\x3dCOSM1243133\x3bOCCURENCE\x3d1(oesophagus) . . . . . . . . . . . . . . . . 0.002845 . . . . . 0.0011 0.0046 0.0025 0.0015 5.998e-05 0.0013 0.0051 0.0035 0.0135 0.0010 0.0030 0.0072 0.0066 0 0.0009 0.0044 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0043 . . rs147327086 rs147327086 1 1538 10 1/0 0,255,255 +rs373843012 3 71247032 A G - FOXP1 3823 Forkhead box P1 NM_001244810.1 -1 7141 2082 NP_001231739.1 substitution intron GRCh37 71247032 71247032 Chr3(GRCh37):g.71247032A>G 180+321 180+321 NM_001244810.1:c.180+321T>C p.? p.? 6 6 605515 321 5' 71.8032 9.04236 0.87748 XI.58 71.8032 9.04236 0.87748 XI.58 0 rs373843012 yes no Frequency 1 A 0.000000 0 0.000404 0.000208 0.000087 0.000000 0.000000 0.000357 0.000727 0.000000 0.000155 0.000727 112 5 3 0 0 11 92 0 1 277088 24004 34416 10150 18868 30776 126622 25788 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 5 3 0 0 11 92 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4400 12993 7 2 9 0.000813953 0.000454339 0.000692201 0.000813953 0.000454339 0.000692201 33 transition T C T>C 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.4814815 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . 0.0005 0.0007 0.0008 0.0005 0.0007 0.0008 . -0.0432 . . . . . . . . 4.104e-04 . . . 0.0004 0.0004 0 0 0 0.0005 0 0.0004 0.0005 0.0004 0 0 0 0.0007 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.17 182 ENSG00000114861 FOXP1 FOXP1 . . . . . . 31 0.000477099 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs373843012 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834728 0.000692 . . . . . 0.0003 0.0004 8.934e-05 0 0 0 0.0008 0.0002 0.0004 0.0001 0.0003 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs373843012 rs373843012 1 1538 10 1/0 0,255,255 +rs201069681 3 75680011 G T - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680011 75680011 Chr3(GRCh37):g.75680011G>T *2 *2 NR_031714.1:n.*2G>T p.? p.? 1 rs201069681 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000086 0.000012 0.000000 0.000000 0.000086 3 0 0 0 0 2 1 0 0 190012 11020 28672 7448 15208 23274 81566 18446 4378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 RF 105 Exomes transversion G T G>T 0.843 0.044 202 PASS . . . . . . . . . . . . . . . . 0.16284153 . . @ 149 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 915.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2916 . . . . . . . . 1.626e-05 . . . 0 3.073e-05 0 0 0 0 0 0.0002 0 2.667e-05 0 0 0 0 0 0.0002 . . . . . . downstream downstream downstream . . . @ . . . 0.53 0.17 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201069681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.579e-05 0 0 0 0 1.226e-05 0 8.593e-05 . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,136,230 +rs796656371 3 75680035 G C - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680035 75680035 Chr3(GRCh37):g.75680035G>C *26 *26 NR_031714.1:n.*26G>C p.? p.? 1 rs796656371 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30400 8704 834 286 1620 0 14490 3494 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 104 Genomes transversion G C G>C 0.331 -0.844 198 PASS . . . . . . . . . . . . . . . . 0.15331355 . . @ 155 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1011.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.1822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.5 0.17 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,131,231 +rs112556087 3 75680037 G T - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680037 75680037 Chr3(GRCh37):g.75680037G>T *28 *28 NR_031714.1:n.*28G>T p.? p.? 1 rs112556087 no no 0 G 0.000000 0 transversion G T G>T 0.374 -0.763 219 PASS . . . . . . . . . . . . . . . . 0.209 . . @ 209 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1000.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.1906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.51 0.24 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112556087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . rs112556087 rs112556087 1 1538 10 1/0 0,137,216 +rs796388336 3 75680044 C T - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680044 75680044 Chr3(GRCh37):g.75680044C>T *35 *35 NR_031714.1:n.*35C>T p.? p.? 1 rs796388336 no no 0 C 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000295 0.000000 0.000000 0.000000 0.000295 2 0 0 0 0 2 0 0 0 73514 6108 11230 1718 7992 6770 27330 10548 1818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 175 Exomes transition C T C>T 0.697 1.013 201 PASS . . . . . . . . . . . . . . . . 0.16093117 . . @ 159 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 988.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.1953 . . . . . . . . 1.381e-05 . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.721e-05 0 0 0 0 0 0 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,133,233 +rs112737384 3 75680045 A G - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680045 75680045 Chr3(GRCh37):g.75680045A>G *36 *36 NR_031714.1:n.*36A>G p.? p.? 1 rs112737384 yes no Frequency 1 A 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000309 0.000000 0.000000 0.000000 0.000309 2 0 0 0 0 2 0 0 0 102282 14766 11972 1826 9514 6468 41108 13894 2734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.705 0.851 255 PASS . . . . . . . . . . . . . . . . 0.36616915 . . @ 368 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1005.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.1884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.51 0.28 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112737384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.781e-05 0 0 0 0 0 0 0.0003 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112737384 rs112737384 1 1538 10 1/0 0,151,194 +rs201219779 3 75680067 A G - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680067 75680067 Chr3(GRCh37):g.75680067A>G *58 *58 NR_031714.1:n.*58A>G p.? p.? 1 rs201219779 no no 0 A 0.000000 0 transition A G A>G 0.992 0.205 196 PASS . . . . . . . . . . . . . . . . 0.1480709 . . @ 142 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 959.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.45 0.24 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201219779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs201219779 rs201219779 1 1538 10 1/0 0,133,242 +rs202061161 3 75680073 G A - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680073 75680073 Chr3(GRCh37):g.75680073G>A *64 *64 NR_031714.1:n.*64G>A p.? p.? 1 rs202061161 no no 0 G 0.000000 0 transition G A G>A 0.992 1.255 191 PASS . . . . . . . . . . . . . . . . 0.13751264 . . @ 136 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 989.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.46 0.18 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs202061161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . rs202061161 rs202061161 1 1538 10 1/0 0,131,244 +. 3 75680098 GCCCTTGCCTAG G - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 deletion downstream GRCh37 75680099 75680109 Chr3(GRCh37):g.75680099_75680109del *90 *100 NR_031714.1:n.*90_*100del p.? p.? 1 CCCTTGCCTAG 255 Pass . . . . . . . . . . . . . . . . 0.1785235 . . . 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 745 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . . . . . . . . ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,75 +. 3 75680105 C T - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680105 75680105 Chr3(GRCh37):g.75680105C>T *96 *96 NR_031714.1:n.*96C>T p.? p.? 1 transition C T C>T 0.016 1.255 184 PASS . . . . . . . . . . . . . . . . 0.110363394 . . @ 82 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 743.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,255 +rs112305599 3 75680126 T C - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680126 75680126 Chr3(GRCh37):g.75680126T>C *117 *117 NR_031714.1:n.*117T>C p.? p.? 1 rs112305599 no no 0 T 0.000000 0 transition T C T>C 0.102 -0.037 229 PASS . . . . . . . . . . . . . . . . 0.23757765 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 644.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.49 0.2 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112305599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs112305599 rs112305599 1 1538 10 1/0 0,159,251 +. 3 75713466 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution 5'UTR GRCh37 75713466 75713466 Chr3(GRCh37):g.75713466A>G -65 -65 NM_001124759.3:c.-65A>G p.? p.? 1 -243 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 Cryptic Donor Strongly Activated 75713461 1.01007 0.007779 62.7735 5.05947 0.132856 74.9251 transition A G A>G 0.114 0.448 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . -0.2562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.74 0.36 182 ENSG00000172969 FLJ20518 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138624694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75373381 rs138624694 1 1538 10 1/0 0,255,255 +rs73840313 3 75713472 C A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution 5'UTR GRCh37 75713472 75713472 Chr3(GRCh37):g.75713472C>A -59 -59 NM_001124759.3:c.-59C>A p.? p.? 1 -237 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs73840313 no no 0 C 0.000000 0 transversion C A C>A 0.012 -2.619 255 PASS . . . . . . . . . . . . . . . . 0.48 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . -0.7342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.73 0.39 182 ENSG00000172969 FLJ20518 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73840313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73840313 rs73840313 rs144840588 1 1538 10 1/0 0,255,255 +rs73840316 3 75713496 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution 5'UTR GRCh37 75713496 75713496 Chr3(GRCh37):g.75713496A>G -35 -35 NM_001124759.3:c.-35A>G p.? p.? 1 -213 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs73840316 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -2.377 255 PASS . . . . . . . . . . . . . . . . 0.4915254 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 59.0 . . . . . . . . . . -0.8679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 ncRNA_exonic . . . @ . . . 0.74 0.57 182 ENSG00000172969 FLJ20518 FRG2EP . uc003dpt.4:c.-35A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73840316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73840316 rs73840316 rs140301518 1 1538 10 1/0 0,255,255 +rs80271626 3 75713507 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution 5'UTR GRCh37 75713507 75713507 Chr3(GRCh37):g.75713507C>T -24 -24 NM_001124759.3:c.-24C>T p.? p.? 1 -202 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs80271626 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.000 -3.184 255 PASS . . . . . . . . . . . . . . . . 0.3442623 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -1.0978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 ncRNA_exonic . . . @ . . . 0.75 0.57 182 ENSG00000172969 FLJ20518 FRG2EP . uc003dpt.4:c.-24C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80271626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80271626 rs199666615 1 1538 10 1/0 0,255,255 +rs201766868 3 75713555 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713555 75713555 Chr3(GRCh37):g.75713555G>A 25 25 NM_001124759.3:c.25G>A p.Asp9Asn p.Asp9Asn 1 -154 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs201766868 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM4158323|COSM4158323|COSM4158323 Thyroid|Liver|Bone 0.009371|0.000844|0.001757 747|2371|569 transition G A G>A 0.000 -0.602 D Asp GAT 0.461 N Asn AAT 0.464 9 12 7 Armadillo 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.27 3.00 183 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.G25A:p.D9N FRG2C:NM_001124759:exon1:c.G25A:p.D9N . . 0.12048193 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.674 . . 83.0 . . . . . . . . . . -0.4785 -0.736 -0.479 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.363 . . exonic exonic exonic . . 0.095 @ . . . 0.39 0.21 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.739 0.232 . . . . . . . Uncertain_significance . 0 . 0.076 . . . . D 0.895 0.259 . . 37 . 0.395 . . 0.409 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.389 . . 0 0 0 0 0 0 . 0.764 . . 0.739 . . . . . . 0 0.395 . . . . . . . 0.121 . LowAF 0.05 rs201766868 0.011 0.007 . . . . . . . . . . . . . 0.517 -1.03 . 0.100000 A6NGY1 . . . . . 0.069 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -0.609 -0.609000 . . 0.100000 . . 1.0E-183 0.024 0.198 . 0.083 0.016 . 0.293 . 0.278 -0.609 0.150 0.011 rs35781983 rs35781983 rs35781983 rs201766868 1 1538 10 1/0 0,236,255 +rs199575562 3 75713561 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713561 75713561 Chr3(GRCh37):g.75713561C>T 31 31 NM_001124759.3:c.31C>T p.His11Tyr p.His11Tyr 1 -148 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs199575562 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.000 -0.602 H His CAC 0.587 Y Tyr TAC 0.562 11 12 6 Dog 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 1 3.00 176 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.C31T:p.H11Y FRG2C:NM_001124759:exon1:c.C31T:p.H11Y . . 0.105882354 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.306 . @ . . . . . 1 0.318 . . 85.0 . . . . . . . . . . -0.5169 -0.762 -0.517 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.095 @ . . . 0.41 0.27 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.742 0.232 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . D 0.922 0.347 . . 37 . 0.452 . . 0.305 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.651 . . 0 0 0 0 0 0 . 0.481 . . 0.612 . . . . . . 0 0.654 . . . . . . . 0.390 . LowAF 0 rs199575562 . . . . . . . . . . . . . . . 0.517 -1.03 . 0.010000 A6NGY1 . . . . . 0.055 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -0.626 -0.626000 . . 0.010000 . . 1.0E-176 0.039 0.207 . 0.090 0.018 . 0.273 . 0.062 -0.626 0.143 . . . rs199575562 rs199575562 1 1538 10 1/0 0,233,255 +rs201362708 3 75713563 C G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713563 75713563 Chr3(GRCh37):g.75713563C>G 33 33 NM_001124759.3:c.33C>G p.His11Gln p.His11Gln 1 -146 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 New Acceptor Site 75713564 0.262039 0.002743 71.9869 rs201362708 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion C G C>G 0.000 -0.602 H His CAC 0.587 Q Gln CAG 0.744 11 12 6 Dog 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.55 3.00 190 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.C33G:p.H11Q FRG2C:NM_001124759:exon1:c.C33G:p.H11Q . . 0.13636364 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.126 . @ . . . . . 1 0.160 . . 88.0 . . . . . . . . . . -0.4916 -0.748 -0.492 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.095 @ . . . 0.4 0.27 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.739 0.232 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . D 0.928 0.374 . . 37 . 0.461 . . 0.322 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.695 . . 0 0 0 0 0 0 . 0.533 . . 0.663 . . . . . . 0 0.599 . . . . . . . 0.416 . LowAF 0 rs201362708 . . . . . . . . . . . . . . . 0.517 -1.03 . 0.010000 A6NGY1 . . . . . 0.055 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -0.609 -0.609000 . . 0.010000 . . 1.0E-190 0.029 0.202 . 0.090 0.014 . 0.273 . 0.276 -0.609 0.143 . . . rs201362708 rs201362708 1 1538 10 1/0 0,234,255 +. 3 75713566 T C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75713566 75713566 Chr3(GRCh37):g.75713566T>C 36 36 NM_001124759.3:c.36T>C p.Cys12= p.Cys12Cys 1 -143 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM6279067 Liver 0.000422 2371 transition T C T>C 0.000 -1.409 C Cys TGT 0.448 C Cys TGC 0.552 12 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.T36C:p.C12C FRG2C:NM_001124759:exon1:c.T36C:p.C12C . . 0.6164383 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . . . . . . . -0.4234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.31 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116151319 0.033 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs74910647 rs116151319 1 1538 10 1/0 0,255,255 +. 3 75713618 A T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713618 75713618 Chr3(GRCh37):g.75713618A>T 88 88 NM_001124759.3:c.88A>T p.Thr30Ser p.Thr30Ser 1 -91 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158324|COSM4158324|COSM4158324 Thyroid|Large intestine|Bone 0.006693|0.000450|0.001757 747|2220|569 transversion A T A>T 0.000 -1.328 T Thr ACA 0.280 S Ser TCA 0.148 30 12 5 Olive baboon 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.3 III.18 226 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.A88T:p.T30S FRG2C:NM_001124759:exon1:c.A88T:p.T30S . . 0.23076923 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.025 . . 130.0 . . . . . . . . . . -1.5309 -1.582 -1.531 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.081 @ . . . 0.39 0.29 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.903 0.261 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.955 0.525 . . 37 . 0.144 . . 0.195 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.290 . . . . . 0.022 . 0.129 . HET 0.45 rs150902075 . . . . . . . . . . . . I.32 . . 0.775 -1.55 . 0.130000 A6NGY1 . . . . . 0.036 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -1.313 -1.313000 . . 0.130000 . . 1.0000000000000001E-226 0.659 0.280 . 0.074 0.038 . 0.052 . 0.084 -1.313 0.167 . . . rs78279965 rs150902075 1 1538 10 1/0 0,227,255 +rs73840317 3 75713654 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713654 75713654 Chr3(GRCh37):g.75713654G>A 124 124 NM_001124759.3:c.124G>A p.Gly42Arg p.Gly42Arg 1 -55 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 12.0958 0 rs73840317 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158326|COSM4158326|COSM4158326 Thyroid|Liver|Large intestine 0.002677|0.000422|0.000901 747|2371|2220 transition G A G>A 0.008 0.690 G Gly GGA 0.246 R Arg AGA 0.205 42 12 9 Armadillo -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 III.18 241 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.G124A:p.G42R FRG2C:NM_001124759:exon1:c.G124A:p.G42R . . 0.27586207 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.150 . . 145.0 . . . . . . . . . . -0.8571 -0.922 -0.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.176 @ . . . 0.45 0.22 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.742 0.232 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.967 0.620 . . 37 . 0.190 . . 0.248 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.748 . . 0 0 0 0 0 0 . 0.256 . . 0.292 . . . . . . 0 0.564 . . . . . 0.129 . 0.293 . HET 0.76 rs73840317 . . . . . . . . . . . . IV.52 0.0 . 0.775 0.775 . 0.020000 A6NGY1 . . . . . 0.065 . . . . . . . . . . . . . . . . . . . . . . 0.331 . 0.699 0.699000 . . 0.020000 . . 1.0E-241 0.350 0.255 . 0.043 0.155 . 0.133 . 0.059 0.699 0.150 . . rs73840317 rs73840317 rs144674412 1 1538 10 1/0 0,226,255 +. 3 75713658 AAG A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 deletion frameshift exon GRCh37 75713659 75713660 Chr3(GRCh37):g.75713659_75713660del 129 130 NM_001124759.3:c.129_130del p.Gly44Glnfs*9 p.Gly44Glnfs*9 1 -49 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XI.02 0 COSM1425312|COSM1425312 Thyroid|Liver 0.001339|0.000422 747|2371 AG 255 Pass . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.129_130del:p.K43fs FRG2C:NM_001124759:exon1:c.129_130del:p.K43fs . . 0.14893617 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,83 +rs73840318 3 75713669 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713669 75713669 Chr3(GRCh37):g.75713669G>A 139 139 NM_001124759.3:c.139G>A p.Ala47Thr p.Ala47Thr 1 -40 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 12.482 0 rs73840318 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158327|COSM4158327 Thyroid|Large intestine 0.002677|0.000901 747|2220 transition G A G>A 0.000 -1.409 A Ala GCC 0.403 T Thr ACC 0.361 47 12 4 Macaque 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.4 III.18 247 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.G139A:p.A47T FRG2C:NM_001124759:exon1:c.G139A:p.A47T . . 0.295302 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.015 . . 149.0 . . . . . . . . . . -1.6724 -1.746 -1.672 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.095 @ . . . 0.37 0.24 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.907 0.262 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.953 0.507 . . 37 . 0.121 . . 0.239 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.156 . . 0.080 . . . . . . 0 0.124 . . . . . . . 0.186 . HET 0.16 rs73840318 . . . . . . . . . . . . . 0.833333 . 0.517 -1.03 . 0.340000 A6NGY1 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -1.402 -1.402000 . . 0.340000 . . 1.0E-247 0.001 0.137 . 0.016 0.009 . 0.034 . 0.041 -1.402 0.150 . . rs73840318 rs73840318 rs142642813 1 1538 10 1/0 0,227,255 +rs12106841 3 75713858 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713858 75713858 Chr3(GRCh37):g.75713858A>G 179-112 179-112 NM_001124759.3:c.179-112A>G p.? p.? 2 1 -112 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.52664 0 Cryptic Acceptor Strongly Activated 75713871 2.03412 0.001112 69.4209 2.79929 0.001742 69.633 rs12106841 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.075 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.6484375 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.27 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114250298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs12106841 rs12106841 rs12106841 rs114250298 1 1538 10 1/0 0,255,255 +rs77194044 3 75713879 C A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713879 75713879 Chr3(GRCh37):g.75713879C>A 179-91 179-91 NM_001124759.3:c.179-91C>A p.? p.? 2 1 -91 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.52664 0 75713882 -20.2941 rs77194044 no no 0 C 0.000000 0 transversion C A C>A 0.087 0.125 224 PASS . . . . . . . . . . . . . . . . 0.22580644 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . . . . . . . . . -0.0538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.26 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77194044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs77194044 rs114606777 1 1538 10 1/0 0,220,255 +. 3 75713897 T G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713897 75713897 Chr3(GRCh37):g.75713897T>G 179-73 179-73 NM_001124759.3:c.179-73T>G p.? p.? 2 1 -73 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.15448 0 75713899 -25.7487 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.000 -1.974 221 PASS . . . . . . . . . . . . . . . . 0.2159091 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . -0.7979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.3 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201975431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs76161015 rs201975431 1 1538 10 1/0 0,214,255 +. 3 75713903 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713903 75713903 Chr3(GRCh37):g.75713903A>G 179-67 179-67 NM_001124759.3:c.179-67A>G p.? p.? 2 1 -67 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.62746 0 transition A G A>G 0.000 -1.489 192 PASS . . . . . . . . . . . . . . . . 0.1396648 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . -0.5799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.33 0.27 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs79560234 rs79560234 1 1538 10 1/0 0,205,255 +rs374465172 3 75713904 T A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713904 75713904 Chr3(GRCh37):g.75713904T>A 179-66 179-66 NM_001124759.3:c.179-66T>A p.? p.? 2 1 -66 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.39095 0 rs374465172 no no 0 T 0.000000 0 transversion T A T>A 0.000 -1.247 189 PASS . . . . . . . . . . . . . . . . 0.13297872 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . -0.5039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs374465172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs374465172 rs374465172 1 1538 10 1/0 0,202,255 +. 3 75713909 G C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713909 75713909 Chr3(GRCh37):g.75713909G>C 179-61 179-61 NM_001124759.3:c.179-61G>C p.? p.? 2 1 -61 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.22429 0 transversion G C G>C 0.008 -1.893 214 PASS . . . . . . . . . . . . . . . . 0.19689119 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 193.0 . . . . . . . . . . -0.5629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.37 0.23 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200437260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs74528535 rs200437260 1 1538 10 1/0 0,208,255 +rs6781177 3 75713948 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713948 75713948 Chr3(GRCh37):g.75713948C>T 179-22 179-22 NM_001124759.3:c.179-22C>T p.? p.? 2 1 -22 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.85577 0 Cryptic Donor Strongly Activated 75713942 8.70331 0.930953 86.8044 10.0326 0.994486 92.583 rs6781177 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.004 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.52803737 . . @ 113 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 214.0 . . . . . . . . . . -0.5655 . . . . . . . . 1.00 . . . . 0 . . . . . . . 0 . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.34 0.25 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116161435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs6781177 rs6781177 rs6781177 rs116161435 1 1538 10 1/0 0,232,253 +. 3 75713955 A T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713955 75713955 Chr3(GRCh37):g.75713955A>T 179-15 179-15 NM_001124759.3:c.179-15A>T p.? p.? 2 1 -15 3' 85.7153 7.57341 0.298824 3.52664 85.7153 8.69213 0.583992 4.56758 0.367339 Cryptic Acceptor Strongly Activated 75713970 7.57341 0.298824 85.7153 8.69213 0.583992 85.7153 75713955 -82.5963 transversion A T A>T 0.008 0.125 181 PASS . . . . . . . . . . . . . . . . 0.11574074 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . -0.3558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.28 0.25 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs140759213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs74458795 rs140759213 1 1538 10 1/0 0,195,255 +. 3 75713958 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713958 75713958 Chr3(GRCh37):g.75713958C>T 179-12 179-12 NM_001124759.3:c.179-12C>T p.? p.? 2 1 -12 3' 85.7153 7.57341 0.298824 3.52664 89.0299 9.03282 0.397952 4.27652 0.1877 Cryptic Acceptor Strongly Activated 75713970 7.57341 0.298824 85.7153 9.03282 0.397952 89.0299 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.000 -0.924 206 PASS . . . . . . . . . . . . . . . . 0.17475729 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 206.0 . . . . . . . . . . -0.5914 . . . . . . . . 1.00 . . . . 0 . . . . . . . 0 . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.34 0.25 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200796097 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs78181421 rs200796097 1 1538 10 1/0 0,202,255 +rs74714110 3 75714298 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714298 75714298 Chr3(GRCh37):g.75714298A>G 278 278 NM_001124759.3:c.278A>G p.Gln93Arg p.Gln93Arg 3 22 3' 83.1486 7.70277 0.846351 8.39206 83.1486 7.70277 0.846351 8.29755 0 Cryptic Acceptor Strongly Activated 75714311 1.6e-05 1.10689 2.8e-05 65.5477 rs74714110 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM6248632 Liver 0.000422 2371 transition A G A>G 0.000 -1.974 Q Gln CAG 0.744 R Arg CGG 0.207 93 12 3 American pika 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 224.96 0.00 Tolerated 0.55 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon3:c.A278G:p.Q93R FRG2C:NM_001124759:exon3:c.A278G:p.Q93R . . 0.70098037 . . @ 143 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.028 . . 204.0 . . . . . . . . . . -1.8728 -1.915 -1.873 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.095 @ . . . 0.38 0.32 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.976 0.296 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.954 0.515 . . 37 . 0.170 . . 0.276 . . . 0.041 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.092 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.025 . . . . . . . 0.393 . HET 0.9 rs74714110 . . . . . . . . . . . . . 1.0 . 0.517 -1.03 . 0.850000 A6NGY1 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.083 . -2.018 -2.018000 . . 0.850000 . . 1.0E-255 0.182 0.239 . 0.016 0.088 . 0.028 . 0.011 -2.018 -1.219 . . . rs74714110 rs114375735 1 1538 10 1/0 0,225,220 +rs79850029 3 75714311 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714311 75714311 Chr3(GRCh37):g.75714311G>A 291 291 NM_001124759.3:c.291G>A p.Arg97= p.Arg97Arg 3 35 3' 83.1486 7.70277 0.846351 8.39206 83.1486 7.70277 0.846351 8.57187 0 rs79850029 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158331|COSM4158331|COSM4158331|COSM4158331|COSM4158331 Thyroid|Liver|Large intestine|Haematopoietic and lymphoid tissue|Bone 0.002677|0.000422|0.000450|0.000283|0.001757 747|2371|2220|3530|569 transition G A G>A 0.008 0.125 R Arg AGG 0.207 R Arg AGA 0.205 97 229 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon3:c.G291A:p.R97R FRG2C:NM_001124759:exon3:c.G291A:p.R97R . . 0.2394958 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 238.0 . . . . . . . . . . -0.0622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.27 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79850029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . rs71244677 rs71244677 rs200251808 1 1538 10 1/0 0,201,255 +rs73840323 3 75714337 T G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714337 75714337 Chr3(GRCh37):g.75714337T>G 317 317 NM_001124759.3:c.317T>G p.Ile106Ser p.Ile106Ser 3 -18 5' 72.4389 6.68312 0.801767 3.37715 72.4389 6.68312 0.801767 3.20782 0 rs73840323 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion T G T>G 0.000 -1.409 I Ile ATC 0.481 S Ser AGC 0.243 106 12 2 Chimp -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 229.27 0.00 Tolerated 0.92 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon3:c.T317G:p.I106S FRG2C:NM_001124759:exon3:c.T317G:p.I106S . . 0.72183096 . . @ 205 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.026 . . 284.0 . . . . . . . . . . -1.9527 -1.921 -1.953 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.095 @ . . . 0.42 0.35 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.910 0.263 . . . . . . . Uncertain_significance . 0 . 0.044 . . . . D 0.904 0.286 . . 37 . 0.084 . . 0.146 . . . 0.012 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.206 . HET 1 rs73840323 . . . . . . . . . . . . . 1.0 . 0.517 -1.03 . 1.000000 A6NGY1 . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.083 . -1.488 -1.488000 . . 1.000000 . . 1.0E-255 0.834 0.299 . 0.157 0.094 . 0.079 . 0.066 -1.488 -1.542 . . rs73840323 rs73840323 rs150591814 1 1538 10 1/0 0,214,210 +rs73840324 3 75714345 G T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714345 75714345 Chr3(GRCh37):g.75714345G>T 325 325 NM_001124759.3:c.325G>T p.Asp109Tyr p.Asp109Tyr 3 -10 5' 72.4389 6.68312 0.801767 3.37715 72.4389 6.68312 0.801767 2.77451 0 Cryptic Acceptor Strongly Activated 75714350 0.002796 0.764067 0.078196 76.3116 rs73840324 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158332|COSM4158332 Thyroid|Large intestine 0.001339|0.000450 747|2220 transversion G T G>T 0.000 -0.360 D Asp GAC 0.539 Y Tyr TAC 0.562 109 12 8 Armadillo -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 251.13 51.67 Tolerated 0.11 II.95 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon3:c.G325T:p.D109Y FRG2C:NM_001124759:exon3:c.G325T:p.D109Y . . 0.33691755 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.102 . @ . . . . . 1 0.304 . . 279.0 . . . . . . . . . . -0.8491 -0.971 -0.849 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.494 . . exonic exonic exonic . . 0.107 @ . . . 0.39 0.26 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.694 0.226 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.706 . . 37 . 0.350 . . 0.434 . . . 0.263 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.718 . . 0 0 0 0 0 0 . 0.288 . . 0.371 . . . . . . 0 0.491 . . . . . . . 0.440 . HET 0.05 rs73840324 . . . . . . . . . . . . . . . 0.517 -0.684 . 0.030000 A6NGY1 . . . . . 0.081 . . . . . . . . . . . . . . . . . . . . . . 0.083 . -0.331 -0.331000 . . 0.030000 . . 1.0E-255 0.948 0.327 . 0.224 0.165 . 0.293 . 0.278 -0.331 0.150 . . rs73840324 rs73840324 rs202087446 1 1538 10 1/0 0,203,245 +rs6799371 3 75714379 T G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714379 75714379 Chr3(GRCh37):g.75714379T>G 334+25 334+25 NM_001124759.3:c.334+25T>G p.? p.? 3 3 25 5' 72.4389 6.68312 0.801767 3.37715 72.4389 6.68312 0.801767 3.78888 0 rs6799371 no no 0 T 0.000000 0 transversion T G T>G 0.012 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36131388 . . @ 99 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 274.0 . . . . . . . . . . -0.2977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.36 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6799371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs6799371 rs6799371 rs6799371 rs200420482 1 1538 10 1/0 0,206,251 +rs73840325 3 75714382 G C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714382 75714382 Chr3(GRCh37):g.75714382G>C 334+28 334+28 NM_001124759.3:c.334+28G>C p.? p.? 3 3 28 5' 72.4389 6.68312 0.801767 3.37715 72.4389 6.68312 0.801767 3.39946 0 rs73840325 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G C G>C 0.004 -4.153 129 PASS . . . . . . . . . . . . . . . . 0.30960855 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 281.0 . . . . . . . . . . -1.3017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.47 0.31 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73840325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . . rs73840325 rs73840325 rs115500709 1 1538 10 1/0 0,218,255 +rs79797113 3 75714608 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714608 75714608 Chr3(GRCh37):g.75714608C>T 335-70 335-70 NM_001124759.3:c.335-70C>T p.? p.? 4 3 -70 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.73 0 Cryptic Acceptor Weakly Activated 75714613 2.63349 0.155348 72.5314 2.01798 0.317013 76.077 rs79797113 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.004 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.3243243 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 296.0 . . . . . . . . . . -0.4011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.31 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79797113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79797113 rs139886235 1 1538 10 1/0 0,198,235 +rs75484772 3 75714648 T G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714648 75714648 Chr3(GRCh37):g.75714648T>G 335-30 335-30 NM_001124759.3:c.335-30T>G p.? p.? 4 3 -30 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XI.88 0 rs75484772 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion T G T>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 425.0 . . . . . . . . . . -0.3693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.33 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75484772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75484772 rs200226200 1 1538 10 1/0 0,185,218 +rs77035831 3 75714663 A C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714663 75714663 Chr3(GRCh37):g.75714663A>C 335-15 335-15 NM_001124759.3:c.335-15A>C p.? p.? 4 3 -15 3' 96.6549 X.77 0.988962 XII.66 96.6549 XI.87 0.992388 13.7399 0.0304842 75714663 -65.8583 rs77035831 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.38075313 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 478.0 . . . . . . . . . . -0.4544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.3 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77035831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77035831 rs201520992 1 1538 10 1/0 0,182,211 +rs62247157 3 75714702 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714702 75714702 Chr3(GRCh37):g.75714702A>G 359 359 NM_001124759.3:c.359A>G p.Asn120Ser p.Asn120Ser 4 25 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 12.237 0 rs62247157 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition A G A>G 0.000 -1.974 N Asn AAC 0.536 S Ser AGC 0.243 120 12 3 Macaque 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 46.24 0.00 Tolerated 1 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.A359G:p.N120S FRG2C:NM_001124759:exon4:c.A359G:p.N120S . . 0.712204 . . @ 391 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.017 . . 549.0 . . . . . . . . . . -2.1669 -2.186 -2.167 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.243 . . exonic exonic exonic . . 0.095 @ . . . 0.47 0.35 182 ENSG00000172969 FLJ20518 FRG2C . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.951 0.498 . . 37 . 0.053 . . 0.196 . . . 0.010 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.035 . HET 1 rs62247157 . . . . . . . . . . . . . . . 0.517 -1.03 . 1.000000 A6NGY1 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.052 . -2.018 -2.018000 . . 1.000000 . . 1.0E-255 0.001 0.137 . 0.043 0.055 . 0.048 . 0.065 -2.018 -1.219 . rs62247157 rs62247157 rs62247157 rs150428518 1 1538 10 1/0 0,185,181 +. 3 75714709 G T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714709 75714709 Chr3(GRCh37):g.75714709G>T 366 366 NM_001124759.3:c.366G>T p.Thr122= p.Thr122Thr 4 32 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 11.697 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158333|COSM4158333|COSM4158333|COSM4158333 Thyroid|Liver|Large intestine|Haematopoietic and lymphoid tissue 0.002677|0.000844|0.000901|0.001133 747|2371|2220|3530 transversion G T G>T 0.000 -0.360 T Thr ACG 0.116 T Thr ACT 0.243 122 209 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G366T:p.T122T FRG2C:NM_001124759:exon4:c.G366T:p.T122T . . 0.1821366 . . @ 104 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 571.0 . . . . . . . . . . -0.4402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148233498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs34204891 rs34204891 rs34204891 rs148233498 1 1538 10 1/0 0,158,233 +. 3 75714771 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714771 75714771 Chr3(GRCh37):g.75714771A>G 428 428 NM_001124759.3:c.428A>G p.Asp143Gly p.Asp143Gly 4 94 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Strongly Activated 75714784 6.57087 0.119798 68.211 7.58887 0.206337 68.304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM4158334|COSM4158334|COSM4158334|COSM4158334 Thyroid|Oesophagus|Liver|Large intestine 0.005355|0.002135|0.000844|0.000901 747|1405|2371|2220 transition A G A>G 0.008 0.448 D Asp GAT 0.461 G Gly GGT 0.162 143 12 6 Armadillo -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.55 3.X 205 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.A428G:p.D143G FRG2C:NM_001124759:exon4:c.A428G:p.D143G . . 0.17160687 . . @ 110 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.263 . . 641.0 . . . . . . . . . . -0.6086 -0.864 -0.609 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . 0.161 @ . . . 0.44 0.35 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.374 . . . . . . . Uncertain_significance . 0 . 0.016 . . . . D 0.903 0.281 . . 37 . 0.458 . . 0.440 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.553 . . 0 0 0 0 0 0 . 0.615 . . 0.662 . . . . . . 0 0.342 . . . . . . . 0.532 . HET 0.38 rs199597773 . . . . . . . . . . . . . . . 0.517 0.517 . 0.310000 A6NGY1 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.441 0.441000 . . 0.310000 . . 1.0E-205 0.005 0.169 . 0.062 0.036 . 0.067 . 0.058 0.441 0.167 . rs34403349 rs34403349 rs34403349 rs199597773 1 1538 10 1/0 0,152,234 +. 3 75714788 A C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714788 75714788 Chr3(GRCh37):g.75714788A>C 445 445 NM_001124759.3:c.445A>C p.Ser149Arg p.Ser149Arg 4 111 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158335|COSM4158335|COSM4158335 Thyroid|Oesophagus|Haematopoietic and lymphoid tissue 0.004016|0.000712|0.000567 747|1405|3530 transversion A C A>C 0.000 -1.651 S Ser AGT 0.149 R Arg CGT 0.082 149 12 3 Rabbit -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 244.67 0.00 Tolerated 0.71 II.90 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.A445C:p.S149R FRG2C:NM_001124759:exon4:c.A445C:p.S149R . . 0.3415929 . . @ 193 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.014 . . 565.0 . . . . . . . . . . -2.0033 -2.048 -2.003 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.398 . . exonic exonic exonic . . 0.086 @ . . . 0.42 0.31 182 ENSG00000172969 FLJ20518 FRG2C . . . 1.000 0.437 . . . . . . . Uncertain_significance . 0 . 0.023 . . . . D 0.899 0.271 . . 37 . 0.148 . . 0.113 . . . 0.044 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.022 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.020 . . . . . . . 0.428 . HET 0.89 rs115350381 . . . . . . . . . . . . . . . 0.673 -1.35 . 0.890000 A6NGY1 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.991 . -1.757 -1.757000 . . 0.890000 . . 1.0E-255 0.001 0.137 . 0.016 0.036 . 0.076 . 0.010 -1.757 -1.523 . . . rs77229582 rs115350381 1 1538 10 1/0 0,173,215 +. 3 75714805 TG T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 deletion frameshift exon GRCh37 75714808 75714808 Chr3(GRCh37):g.75714808del 465 465 NM_001124759.3:c.465del p.Arg156Alafs*10 p.Arg156Alafs*10 4 131 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Weakly Activated 75714814 0.944752 0.000905 66.0903 0.999412 0.000713 71.0841 rs144577984 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM5635791|COSM5635791 Oesophagus|Central nervous system 0.003559|0.002495 1405|2405 G 255 Pass . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.463delG:p.G155fs FRG2C:NM_001124759:exon4:c.463delG:p.G155fs . . 0.26872247 . . . 183 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144577984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs144577984 rs144577984 1 1538 10 1.I 0,10,57 +rs62247158 3 75714807 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714807 75714807 Chr3(GRCh37):g.75714807G>A 464 464 NM_001124759.3:c.464G>A p.Gly155Glu p.Gly155Glu 4 130 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs62247158 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4005624|COSM4005624|COSM4005624|COSM4005624 Urinary tract|Thyroid|Oesophagus|Large intestine 0.001488|0.012048|0.002847|0.001351 672|747|1405|2220 transition G A G>A 0.039 0.125 G Gly GGG 0.250 E Glu GAG 0.583 155 12 11 Armadillo -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 158.23 60.47 Deleterious 0.02 II.92 230 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G464A:p.G155E FRG2C:NM_001124759:exon4:c.G464A:p.G155E . . 0.25820896 . . @ 173 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.426 . @ . . . . . 1 0.519 . . 670.0 . . . . . . . . . . -0.5388 -0.835 -0.539 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.705 . . exonic exonic exonic . . . @ . . . 0.37 0.28 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.998 0.370 . . . . . . . Uncertain_significance . 0 . 0.042 . . . . D 0.991 0.887 . . 37 . 0.724 . . 0.608 . . . 0.281 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.475 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.682 . . . . . . . 0.419 . HET 0 rs62247158 . . . . . . . . . . . . . . . . . . 0.000000 A6NGY1 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.088 0.088000 . . 0.000000 . . 1.0E-230 0.004 0.165 . 0.095 0.161 . 0.085 . 0.276 0.088 0.060 . rs62247158 rs62247158 rs62247158 rs199780042 1 1538 10 1/0 0,159,227 +rs77371781 3 75714809 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714809 75714809 Chr3(GRCh37):g.75714809C>T 466 466 NM_001124759.3:c.466C>T p.Arg156Cys p.Arg156Cys 4 132 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Strongly Activated 75714814 0.944752 0.000905 66.0903 1.51234 0.002732 69.6359 rs77371781 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM4158336|COSM4158336|COSM4158336 Thyroid|Haematopoietic and lymphoid tissue|Bone 0.004016|0.000283|0.001757 747|3530|569 transition C T C>T 0.043 0.609 R Arg CGC 0.190 C Cys TGC 0.552 156 12 6 Armadillo -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C35 38.73 169.74 Deleterious 0.01 II.92 244 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.C466T:p.R156C FRG2C:NM_001124759:exon4:c.C466T:p.R156C . . 0.28612718 . . @ 198 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.286 . @ . . . . . 1 0.235 . . 692.0 . . . . . . . . . . -1.0845 -1.178 -1.084 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.167 @ . . . 0.38 0.27 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.378 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.986 0.813 . . 37 . 0.355 . . 0.310 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.414 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.371 . . . . . . . 0.386 . HET 0.12 rs77371781 . . . . . . . . . . . . . . . 0.616 0.616 . 0.070000 A6NGY1 . . . . . 0.015 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.640 0.640000 . . 0.070000 . . 1.0000000000000001E-244 0.002 0.151 . 0.074 0.163 . 0.272 . 0.275 0.640 0.057 . . . rs77371781 rs117327874 1 1538 10 1/0 0,159,216 +rs74497996 3 75714819 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714819 75714819 Chr3(GRCh37):g.75714819G>A 476 476 NM_001124759.3:c.476G>A p.Arg159Gln p.Arg159Gln 4 142 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs74497996 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM1618046|COSM1618046|COSM1618046|COSM1618046 Thyroid|Liver|Central nervous system|Bone 0.002677|0.000422|0.002495|0.001757 747|2371|2405|569 transition G A G>A 0.004 0.690 R Arg CGG 0.207 Q Gln CAG 0.744 159 12 9 Armadillo 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 125.46 X.30 Tolerated 0.2 II.92 246 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G476A:p.R159Q FRG2C:NM_001124759:exon4:c.G476A:p.R159Q . . 0.29183957 . . @ 211 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.197 . @ . . . . . 1 0.252 . . 723.0 . . . . . . . . . . -1.2113 -1.299 -1.211 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.555 . . exonic exonic exonic . . 0.170 @ . . . 0.37 0.28 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.378 . . . . . . . Uncertain_significance . 0 . 0.040 . . . . D 0.961 0.565 . . 37 . 0.362 . . 0.340 . . . 0.181 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.247 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.433 . . . . . . . 0.380 . HET 0.13 rs74497996 . . . . . . . . . . . . . . . 0.673 0.673 . 0.040000 A6NGY1 . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.648 0.648000 . . 0.040000 . . 1.0E-246 0.001 0.137 . 0.016 0.143 . 0.010 . 0.002 0.648 0.150 . . . rs74497996 rs115599848 1 1538 10 1/0 0,158,214 +. 3 75714824 AG A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 deletion frameshift exon GRCh37 75714826 75714826 Chr3(GRCh37):g.75714826del 483 483 NM_001124759.3:c.483del p.Arg161Serfs*5 p.Arg161Serfs*5 4 149 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs373728386 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM3727766 Haematopoietic and lymphoid tissue 0.000283 3530 G 255 Pass . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.482delG:p.R161fs FRG2C:NM_001124759:exon4:c.482delG:p.R161fs . . 0.18402283 . . . 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373728386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35672165 rs35672165 rs35672165 rs35672165 1 1538 10 1.I 0,7,74 +rs373728386 3 75714825 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714825 75714825 Chr3(GRCh37):g.75714825G>A 482 482 NM_001124759.3:c.482G>A p.Arg161Lys p.Arg161Lys 4 148 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 COSM5636309|COSM5636309 Thyroid|Oesophagus 0.005355|0.002847 747|1405 transition G A G>A 0.004 0.690 R Arg AGG 0.207 K Lys AAG 0.575 161 12 8 Armadillo 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 225.61 XII.95 Tolerated 0.49 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G482A:p.R161K FRG2C:NM_001124759:exon4:c.G482A:p.R161K . . 0.26714286 . . @ 187 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.079 . @ . . . . . 1 0.175 . . 700.0 . . . . . . . . . . -1.1202 -1.210 -1.120 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.499 . . exonic exonic exonic . . 0.170 @ . . . 0.39 0.3 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.378 . . . . . . . Uncertain_significance . 0 . 0.015 . . . . D 0.932 0.391 . . 37 . 0.349 . . 0.148 . . . 0.246 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.307 . . 0 0 0 0 0 0 . 0.154 . . 0.162 . . . . . . 0 0.231 . . . . . . . 0.461 . HET 1 rs115693429 0.022 0.014 . . . . . . . . . . . . . 0.673 0.673 . 0.420000 A6NGY1 . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.052 . 0.648 0.648000 . . 0.420000 . . 1.0E-255 0.004 0.165 . 0.062 0.120 . 0.296 . 0.278 0.648 0.150 0.022 . . rs74640812 rs115693429 1 1538 10 1/0 0,178,222 +rs138192454 3 75714831 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714831 75714831 Chr3(GRCh37):g.75714831G>A 488 488 NM_001124759.3:c.488G>A p.Arg163Gln p.Arg163Gln 4 154 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs138192454 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158337 Thyroid 0.005355 747 transition G A G>A 0.000 0.690 R Arg CGG 0.207 Q Gln CAG 0.744 163 12 9 Cow 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 199.67 0.00 Tolerated 0.27 II.92 242 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G488A:p.R163Q FRG2C:NM_001124759:exon4:c.G488A:p.R163Q . . 0.2778542 . . @ 202 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.228 . @ . . . . . 1 0.368 . . 727.0 . . . . . . . . . . -1.0896 -1.186 -1.090 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.515 . . exonic exonic exonic . . 0.170 @ . . . 0.39 0.29 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.378 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . D 0.936 0.412 . . 37 . 0.356 . . 0.210 . . . 0.263 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.215 . . . . . . . 0.408 . HET 0.17 rs138192454 . . . . . . . . . . . . . . . 0.673 0.673 . 0.210000 A6NGY1 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.052 . 0.648 0.648000 . . 0.210000 . . 1.0E-242 0.001 0.137 . 0.016 0.121 . 0.296 . 0.077 0.648 0.150 . . . rs138192454 rs138192454 1 1538 10 1/0 0,157,217 +rs150744016 3 75714835 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714835 75714835 Chr3(GRCh37):g.75714835C>T 492 492 NM_001124759.3:c.492C>T p.Ala164= p.Ala164Ala 4 158 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Weakly Activated 75714840 1.47273 0.018168 67.0309 0.970598 0.018953 70.5765 rs150744016 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM1162317|COSM1162317|COSM1162317 Thyroid|Pancreas|Central nervous system 0.004016|0.000569|0.002495 747|1758|2405 transition C T C>T 0.000 0.690 A Ala GCC 0.403 A Ala GCT 0.263 164 244 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.C492T:p.A164A FRG2C:NM_001124759:exon4:c.C492T:p.A164A . . 0.2835821 . . @ 209 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 737.0 . . . . . . . . . . -0.2726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.35 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150744016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs150744016 rs150744016 1 1538 10 1/0 0,157,216 +. 3 75714840 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714840 75714840 Chr3(GRCh37):g.75714840A>G 497 497 NM_001124759.3:c.497A>G p.Glu166Gly p.Glu166Gly 4 163 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Strongly Activated 75714840 1.47273 0.018168 67.0309 3.14058 0.082717 70.9418 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158338|COSM4158338|COSM4158338 Thyroid|Oesophagus|Haematopoietic and lymphoid tissue 0.005355|0.002847|0.000850 747|1405|3530 transition A G A>G 0.000 -1.893 E Glu GAA 0.417 G Gly GGA 0.246 166 12 4 Armadillo -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 155.40 0.00 Tolerated 0.3 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.A497G:p.E166G FRG2C:NM_001124759:exon4:c.A497G:p.E166G . . 0.55059135 . . @ 419 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.004 . . 761.0 . . . . . . . . . . -2.0998 -2.147 -2.100 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . 0.086 @ . . . 0.38 0.33 182 ENSG00000172969 FLJ20518 FRG2C . . . 1.000 0.458 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.927 0.368 . . 37 . 0.159 . . 0.197 . . . 0.021 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.355 . HET 1 rs200756071 0.022 0.014 . . . . . . . . . . . . . 0.673 -1.35 . 1.000000 A6NGY1 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.052 . -2.051 -2.051000 . . 1.000000 . . 1.0E-255 0.002 0.151 . 0.016 0.074 . 0.078 . 0.010 -2.051 -1.219 0.022 . . rs77669108 rs200756071 1 1538 10 1/0 0,175,187 +. 3 75714843 T A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714843 75714843 Chr3(GRCh37):g.75714843T>A 500 500 NM_001124759.3:c.500T>A p.Val167Asp p.Val167Asp 4 166 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 COSM4158339|COSM4158339|COSM4158339|COSM4158339 Thyroid|Oesophagus|Large intestine|Haematopoietic and lymphoid tissue 0.005355|0.002847|0.000450|0.000283 747|1405|2220|3530 transversion T A T>A 0.000 -2.539 V Val GTC 0.240 D Asp GAC 0.539 167 12 5 Olive baboon -3 -3 -6 0 I.38 5.IX 13 84 54 152 C0 154.90 0.00 Tolerated 0.74 II.92 231 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.T500A:p.V167D FRG2C:NM_001124759:exon4:c.T500A:p.V167D . . 0.24348958 . . @ 187 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.022 . . 768.0 . . . . . . . . . . -1.7596 -1.877 -1.760 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.086 @ . . . 0.36 0.34 182 ENSG00000172969 FLJ20518 FRG2C . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.035 . . . . D 0.943 0.447 . . 37 . 0.242 . . 0.074 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.043 . . 0 0 0 0 0 0 . 0.245 . . 0.342 . . . . . . 0 0.176 . . . . . . . 0.349 . HET 0.22 rs201904817 0.022 0.014 . . . . . . . . . . . . . 0.673 -1.35 . 0.250000 A6NGY1 . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.052 . -2.651 -2.651000 . . 0.250000 . . 1.0E-231 0.008 0.178 . 0.074 0.076 . 0.090 . 0.278 -2.651 0.158 0.022 . . rs77860721 rs201904817 1 1538 10 1/0 0,151,221 +. 3 75714853 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714853 75714853 Chr3(GRCh37):g.75714853G>A 510 510 NM_001124759.3:c.510G>A p.Pro170= p.Pro170Pro 4 176 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 COSM4158340|COSM4158340|COSM4158340 Thyroid|Oesophagus|Large intestine 0.002677|0.003559|0.000901 747|1405|2220 transition G A G>A 0.000 -1.651 P Pro CCG 0.115 P Pro CCA 0.274 170 224 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G510A:p.P170P FRG2C:NM_001124759:exon4:c.G510A:p.P170P . . 0.22352941 . . @ 171 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 765.0 . . . . . . . . . . -0.6698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.29 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199889568 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . 0.022 . . rs75091771 rs199889568 1 1538 10 1/0 0,149,224 +. 3 75714895 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714895 75714895 Chr3(GRCh37):g.75714895G>A 552 552 NM_001124759.3:c.552G>A p.Ser184= p.Ser184Ser 4 218 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM1753391|COSM1753391|COSM1753391 Urinary tract|Thyroid|Large intestine 0.001488|0.002677|0.000901 672|747|2220 transition G A G>A 0.012 -1.893 S Ser TCG 0.056 S Ser TCA 0.148 184 182 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G552A:p.S184S FRG2C:NM_001124759:exon4:c.G552A:p.S184S . . 0.11668928 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 737.0 . . . . . . . . . . -0.7360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs35388625 rs35388625 rs35388625 rs35388625 1 1538 10 1/0 0,141,254 +rs75138472 3 75714917 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714917 75714917 Chr3(GRCh37):g.75714917G>A 574 574 NM_001124759.3:c.574G>A p.Ala192Thr p.Ala192Thr 4 240 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs75138472 no no 0 G 0.000000 0 COSM4158341|COSM4158341 Thyroid|Large intestine 0.002677|0.001351 747|2220 transition G A G>A 0.008 0.448 A Ala GCC 0.403 T Thr ACC 0.361 192 12 7 Dog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 65.28 49.42 Tolerated 0.15 II.92 222 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G574A:p.A192T FRG2C:NM_001124759:exon4:c.G574A:p.A192T . . 0.2173913 . . @ 145 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.103 . @ . . . . . 1 0.224 . . 667.0 . . . . . . . . . . -1.1346 -1.244 -1.135 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.515 . . exonic exonic exonic . . 0.155 @ . . . 0.42 0.31 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.374 . . . . . . . Uncertain_significance . 0 . 0.079 . . . . D 0.912 0.311 . . 37 . 0.323 . . 0.356 . . . 0.246 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.324 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.419 . . . . . . . 0.388 . HET 0.4 rs75138472 . . . . . . . . . . . . . . . 0.397 0.397 . 0.060000 A6NGY1 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.451 0.451000 . . 0.060000 . . 1.0E-222 0.002 0.151 . 0.043 0.071 . 0.142 . 0.018 0.451 0.150 . . . rs75138472 rs146351690 1 1538 10 1/0 0,155,240 +. 3 75714929 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714929 75714929 Chr3(GRCh37):g.75714929G>A 586 586 NM_001124759.3:c.586G>A p.Ala196Thr p.Ala196Thr 4 252 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 COSM4158342|COSM4158342 Thyroid|Large intestine 0.001339|0.001802 747|2220 transition G A G>A 0.000 -0.440 A Ala GCA 0.226 T Thr ACA 0.280 196 12 9 Armadillo 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 248.20 0.00 Tolerated 0.07 II.90 219 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G586A:p.A196T FRG2C:NM_001124759:exon4:c.G586A:p.A196T . . 0.2167939 . . @ 142 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.451 . . 655.0 . . . . . . . . . . -0.6757 -0.976 -0.676 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.104 @ . . . 0.39 0.29 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.376 . . . . . . . Uncertain_significance . 0 . 0.098 . . . . D 0.923 0.351 . . 37 . 0.466 . . 0.508 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.408 . . 0 0 0 0 0 0 . 0.615 . . 0.625 . . . . . . 0 0.377 . . . . . . . 0.338 . HET 0.31 rs148715408 . . . . . . . . . . . . . . . 0.397 -0.763 . 0.080000 A6NGY1 . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.991 . -0.433 -0.433000 . . 0.080000 . . 1.0E-219 0.001 0.137 . 0.043 0.011 . 0.125 . 0.052 -0.433 0.150 . . . rs75980922 rs148715408 1 1538 10 1/0 0,156,247 +rs796705380 3 75718092 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718092 75718092 Chr3(GRCh37):g.75718092C>T *2900 *2900 NM_001124759.3:c.*2900C>T p.? p.? 4 3415 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796705380 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.004 -0.198 114 PASS . . . . . . . . . . . . . . . . 0.1264637 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 427.0 . . . . . . . . . . -0.3245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1724\x3bdist\x3d3340 dist\x3d1724\x3bdist\x3d3340 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-114 . . . . . . . . . . . . . . . . 1 1538 14 1/0 0,170,253 +rs796437293 3 75718102 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718102 75718102 Chr3(GRCh37):g.75718102G>A *2910 *2910 NM_001124759.3:c.*2910G>A p.? p.? 4 3425 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 New Acceptor Site 75718104 5.20217 0.439724 73.1873 rs796437293 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -2.135 120 PASS . . . . . . . . . . . . . . . . 0.14823009 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 452.0 . . . . . . . . . . -0.7046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1734\x3bdist\x3d3330 dist\x3d1734\x3bdist\x3d3330 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-120 . . . . . . . . . . . . . . . . 1 1538 14 1/0 0,171,248 +. 3 75718106 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718106 75718106 Chr3(GRCh37):g.75718106A>G *2914 *2914 NM_001124759.3:c.*2914A>G p.? p.? 4 3429 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.008 0.770 255 PASS . . . . . . . . . . . . . . . . 0.59423506 . . @ 268 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 451.0 . . . . . . . . . . -0.2760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.68 0.32 182 ENSG00000236138 . . . dist\x3d1738\x3bdist\x3d3326 dist\x3d1738\x3bdist\x3d3326 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.85 rs202144711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79976340 rs202144711 1 1538 10 1/0 0,190,188 +rs377274207 3 75718117 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718117 75718117 Chr3(GRCh37):g.75718117C>T *2925 *2925 NM_001124759.3:c.*2925C>T p.? p.? 4 3440 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs377274207 no no 0 C 0.000000 0 transition C T C>T 0.004 0.125 162 PASS . . . . . . . . . . . . . . . . 0.13729508 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 488.0 . . . . . . . . . . -0.3602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1749\x3bdist\x3d3315 dist\x3d1749\x3bdist\x3d3315 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs377274207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-162 . . . . . . . . . . . . . . rs377274207 rs377274207 1 1538 14 1/0 0,162,244 +rs370516968 3 75718119 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718119 75718119 Chr3(GRCh37):g.75718119C>T *2927 *2927 NM_001124759.3:c.*2927C>T p.? p.? 4 3442 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs370516968 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.360 139 PASS . . . . . . . . . . . . . . . . 0.16016427 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 487.0 . . . . . . . . . . -0.2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1751\x3bdist\x3d3313 dist\x3d1751\x3bdist\x3d3313 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.21 rs370516968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-139 . . . . . . . . . . . . . . rs370516968 rs370516968 1 1538 14 1/0 0,167,242 +rs374003485 3 75718128 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718128 75718128 Chr3(GRCh37):g.75718128G>A *2936 *2936 NM_001124759.3:c.*2936G>A p.? p.? 4 3451 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs374003485 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -0.037 183 PASS . . . . . . . . . . . . . . . . 0.2952183 . . @ 142 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 481.0 . . . . . . . . . . -0.2314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1760\x3bdist\x3d3304 dist\x3d1760\x3bdist\x3d3304 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.36 rs374003485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs374003485 rs374003485 1 1538 15 1/0 0,180,220 +rs11128468 3 75718129 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718129 75718129 Chr3(GRCh37):g.75718129A>G *2937 *2937 NM_001124759.3:c.*2937A>G p.? p.? 4 3452 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs11128468 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.790224 . . @ 388 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 491.0 . . . . . . . . . . -0.3763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.66 0.39 182 ENSG00000236138 . . . dist\x3d1761\x3bdist\x3d3303 dist\x3d1761\x3bdist\x3d3303 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11128468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11128468 rs11128468 rs11128468 rs11128468 1 1538 14 1/0 0,176,171 +rs375793983 3 75718133 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718133 75718133 Chr3(GRCh37):g.75718133C>T *2941 *2941 NM_001124759.3:c.*2941C>T p.? p.? 4 3456 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs375793983 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.198 168 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 510.0 . . . . . . . . . . -0.1672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1765\x3bdist\x3d3299 dist\x3d1765\x3bdist\x3d3299 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 1 rs375793983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-168 . . . . . . . . . . . . . . rs375793983 rs375793983 1 1538 14 1/0 0,160,252 +rs76817787 3 75718135 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718135 75718135 Chr3(GRCh37):g.75718135A>G *2943 *2943 NM_001124759.3:c.*2943A>G p.? p.? 4 3458 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs76817787 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.88593155 . . @ 466 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 526.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.63 0.38 182 ENSG00000236138 . . . dist\x3d1767\x3bdist\x3d3297 dist\x3d1767\x3bdist\x3d3297 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76817787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76817787 rs200177745 1 1538 14 1/0 0,168,164 +rs370097316 3 75718139 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718139 75718139 Chr3(GRCh37):g.75718139C>T *2947 *2947 NM_001124759.3:c.*2947C>T p.? p.? 4 3462 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs370097316 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.004 0.125 130 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 88 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 550.0 . . . . . . . . . . -0.0674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1771\x3bdist\x3d3293 dist\x3d1771\x3bdist\x3d3293 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.06 rs370097316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-130 . . . . . . . . . . . . . . rs370097316 rs370097316 1 1538 14 1/0 0,163,238 +rs374591773 3 75718140 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718140 75718140 Chr3(GRCh37):g.75718140G>A *2948 *2948 NM_001124759.3:c.*2948G>A p.? p.? 4 3463 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs374591773 no no 0 G 0.000000 0 transition G A G>A 0.008 1.174 153 PASS . . . . . . . . . . . . . . . . 0.1331058 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 586.0 . . . . . . . . . . -0.1176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1772\x3bdist\x3d3292 dist\x3d1772\x3bdist\x3d3292 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.03 rs374591773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-153 . . . . . . . . . . . . . . rs374591773 rs374591773 1 1538 14 1/0 0,154,243 +rs113448022 3 75718142 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718142 75718142 Chr3(GRCh37):g.75718142C>T *2950 *2950 NM_001124759.3:c.*2950C>T p.? p.? 4 3465 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Donor Strongly Activated 75718140 56.2767 3.83789 0.024218 69.2464 rs113448022 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.008 -0.602 125 PASS . . . . . . . . . . . . . . . . 0.13149351 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 616.0 . . . . . . . . . . -0.2267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.37 182 ENSG00000236138 . . . dist\x3d1774\x3bdist\x3d3290 dist\x3d1774\x3bdist\x3d3290 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 1 rs113448022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-125 . . . . . . . . . . . . . . rs113448022 rs113448022 1 1538 14 1/0 0,154,244 +. 3 75718164 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718164 75718164 Chr3(GRCh37):g.75718164C>T *2972 *2972 NM_001124759.3:c.*2972C>T p.? p.? 4 3487 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.117 158 PASS . . . . . . . . . . . . . . . . 0.1777151 . . @ 126 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 709.0 . . . . . . . . . . -0.2696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.37 182 ENSG00000236138 . . . dist\x3d1796\x3bdist\x3d3268 dist\x3d1796\x3bdist\x3d3268 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-158 . . . . . . . . . . . . . . . . 1 1538 14 1/0 0,151,216 +rs112524382 3 75718174 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718174 75718174 Chr3(GRCh37):g.75718174C>T *2982 *2982 NM_001124759.3:c.*2982C>T p.? p.? 4 3497 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Donor Strongly Activated 75718172 67.7271 4.44386 0.631791 78.1761 rs112524382 no no 0 C 0.000000 0 transition C T C>T 0.000 -2.297 140 PASS . . . . . . . . . . . . . . . . 0.15883978 . . @ 115 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 724.0 . . . . . . . . . . -0.0370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.32 182 ENSG00000236138 . . . dist\x3d1806\x3bdist\x3d3258 dist\x3d1806\x3bdist\x3d3258 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112524382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-140 . . . . . . . . . . . . . . rs200526067 rs200526067 1 1538 14 1/0 0,149,223 +rs10865697 3 75718179 T C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718179 75718179 Chr3(GRCh37):g.75718179T>C *2987 *2987 NM_001124759.3:c.*2987T>C p.? p.? 4 3502 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs10865697 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.7355372 . . @ 534 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 726.0 . . . . . . . . . . 0.4454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.36 182 ENSG00000236138 . . . dist\x3d1811\x3bdist\x3d3253 dist\x3d1811\x3bdist\x3d3253 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs10865697 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs10865697 rs10865697 rs10865697 rs10865697 1 1538 14 1/0 0,159,153 +. 3 75718199 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718199 75718199 Chr3(GRCh37):g.75718199C>T *3007 *3007 NM_001124759.3:c.*3007C>T p.? p.? 4 3522 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -1.247 179 PASS . . . . . . . . . . . . . . . . 0.22060354 . . @ 212 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 961.0 . . . . . . . . . . 0.4118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.32 182 ENSG00000236138 . . . dist\x3d1831\x3bdist\x3d3233 dist\x3d1831\x3bdist\x3d3233 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.14 rs141799937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs36186004 rs36186004 rs141799937 rs141799937 1 1538 13 1/0 0,141,197 +. 3 75718200 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718200 75718200 Chr3(GRCh37):g.75718200G>A *3008 *3008 NM_001124759.3:c.*3008G>A p.? p.? 4 3523 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -0.198 185 PASS . . . . . . . . . . . . . . . . 0.14300203 . . @ 141 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 986.0 . . . . . . . . . . 0.5295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.53 0.32 182 ENSG00000236138 . . . dist\x3d1832\x3bdist\x3d3232 dist\x3d1832\x3bdist\x3d3232 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs36184800 rs36184800 . . 1 1538 10 1/0 0,131,211 +. 3 75718207 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718207 75718207 Chr3(GRCh37):g.75718207G>A *3015 *3015 NM_001124759.3:c.*3015G>A p.? p.? 4 3530 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -1.005 137 PASS . . . . . . . . . . . . . . . . 0.18015414 . . @ 187 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1038.0 . . . . . . . . . . 0.3844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.37 182 ENSG00000236138 . . . dist\x3d1839\x3bdist\x3d3225 dist\x3d1839\x3bdist\x3d3225 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-137 . . . . . . . . . . . . . . . . 1 1538 13 1/0 0,137,198 +rs374298497 3 75718212 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718212 75718212 Chr3(GRCh37):g.75718212C>T *3020 *3020 NM_001124759.3:c.*3020C>T p.? p.? 4 3535 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs374298497 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 0.125 113 PASS . . . . . . . . . . . . . . . . 0.10778985 . . @ 119 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1104.0 . . . . . . . . . . 0.7194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.38 182 ENSG00000236138 . . . dist\x3d1844\x3bdist\x3d3220 dist\x3d1844\x3bdist\x3d3220 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.12 rs374298497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . rs36130764 rs36130764 rs374298497 rs374298497 1 1538 13 1/0 0,126,221 +rs368178797 3 75718219 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718219 75718219 Chr3(GRCh37):g.75718219C>T *3027 *3027 NM_001124759.3:c.*3027C>T p.? p.? 4 3542 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Strongly Activated 75718228 II.84 0.010341 67.8086 3.75685 0.032362 70.5205 rs368178797 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -1.167 156 PASS . . . . . . . . . . . . . . . . 0.13 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1200.0 . . . . . . . . . . 0.3771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.59 0.38 182 ENSG00000236138 . . . dist\x3d1851\x3bdist\x3d3213 dist\x3d1851\x3bdist\x3d3213 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs368178797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . rs36188089 rs36188089 rs368178797 rs368178797 1 1538 10 1/0 0,123,203 +rs372194902 3 75718220 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718220 75718220 Chr3(GRCh37):g.75718220G>A *3028 *3028 NM_001124759.3:c.*3028G>A p.? p.? 4 3543 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs372194902 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 0.205 132 PASS . . . . . . . . . . . . . . . . 0.15950413 . . @ 193 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1210.0 . . . . . . . . . . 0.6933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1852\x3bdist\x3d3212 dist\x3d1852\x3bdist\x3d3212 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 rs372194902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-132 . . . . . . . . . . . . . . rs372194902 rs372194902 1 1538 13 1/0 0,128,195 +rs112217552 3 75718232 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718232 75718232 Chr3(GRCh37):g.75718232C>T *3040 *3040 NM_001124759.3:c.*3040C>T p.? p.? 4 3555 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs112217552 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -2.539 112 PASS . . . . . . . . . . . . . . . . 0.21060172 . . @ 294 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1396.0 . . . . . . . . . . -0.0775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.33 182 ENSG00000236138 . . . dist\x3d1864\x3bdist\x3d3200 dist\x3d1864\x3bdist\x3d3200 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.1 rs112217552 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-112 . . . . . . . . . . . . . . rs149701313 rs149701313 1 1538 13 1/0 0,132,179 +rs796519983 3 75718233 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718233 75718233 Chr3(GRCh37):g.75718233G>A *3041 *3041 NM_001124759.3:c.*3041G>A p.? p.? 4 3556 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796519983 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.198 128 PASS . . . . . . . . . . . . . . . . 0.12833099 . . @ 183 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1426.0 . . . . . . . . . . 0.4870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.29 182 ENSG00000236138 . . . dist\x3d1865\x3bdist\x3d3199 dist\x3d1865\x3bdist\x3d3199 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-128 . . . . . . . . . . . . . . . . 1 1538 13 1/0 0,117,207 +rs200588432 3 75718249 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718249 75718249 Chr3(GRCh37):g.75718249C>T *3057 *3057 NM_001124759.3:c.*3057C>T p.? p.? 4 3572 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs200588432 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 0 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 7478 Genomes transition C T C>T 0.000 -0.682 126 PASS . . . . . . . . . . . . . . . . 0.1185446 . . @ 202 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1704.0 . . . . . . . . . . 0.3557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.3 182 ENSG00000236138 . . . dist\x3d1881\x3bdist\x3d3183 dist\x3d1881\x3bdist\x3d3183 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . . 1.0E-126 . . . . . . . . . . . . . . . . 1 1538 12 1/0 0,108,201 +rs376804863 3 75718250 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718250 75718250 Chr3(GRCh37):g.75718250G>A *3058 *3058 NM_001124759.3:c.*3058G>A p.? p.? 4 3573 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs376804863 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 0 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5739 Genomes transition G A G>A 0.004 0.770 127 PASS . . . . . . . . . . . . . . . . 0.115563296 . . @ 199 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1722.0 . . . . . . . . . . 0.6625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.23 182 ENSG00000236138 . . . dist\x3d1882\x3bdist\x3d3182 dist\x3d1882\x3bdist\x3d3182 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.21 rs376804863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . rs71225874 rs376804863 rs376804863 1 1538 12 1/0 0,107,204 +rs367793103 3 75718257 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718257 75718257 Chr3(GRCh37):g.75718257C>T *3065 *3065 NM_001124759.3:c.*3065C>T p.? p.? 4 3580 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs367793103 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 0 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 7830 Genomes transition C T C>T 0.000 -0.117 185 PASS . . . . . . . . . . . . . . . . 0.17754425 . . @ 321 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1808.0 . . . . . . . . . . 0.5799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.59 0.3 182 ENSG00000236138 . . . dist\x3d1889\x3bdist\x3d3175 dist\x3d1889\x3bdist\x3d3175 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.13 rs367793103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs36127111 rs36127111 rs367793103 rs367793103 1 1538 10 1/0 0,109,183 +rs9713380 3 75718258 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718258 75718258 Chr3(GRCh37):g.75718258G>A *3066 *3066 NM_001124759.3:c.*3066G>A p.? p.? 4 3581 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 New Acceptor Site 75718260 2.65392 0.064634 75.4271 rs9713380 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -2.458 208 PASS . . . . . . . . . . . . . . . . 0.2299613 . . @ 416 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1809.0 . . . . . . . . . . 0.0669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.24 182 ENSG00000236138 . . . dist\x3d1890\x3bdist\x3d3174 dist\x3d1890\x3bdist\x3d3174 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201925389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . rs9713380 rs9713380 rs9713380 rs201925389 1 1538 12 1/0 0,113,169 +rs9798871 3 75718277 T C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718277 75718277 Chr3(GRCh37):g.75718277T>C *3085 *3085 NM_001124759.3:c.*3085T>C p.? p.? 4 3600 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs9798871 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.012 0.690 182 PASS . . . . . . . . . . . . . . . . 0.12946428 . . @ 261 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2016.0 . . . . . . . . . . 0.7153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.57 0.35 182 ENSG00000236138 . . . dist\x3d1909\x3bdist\x3d3155 dist\x3d1909\x3bdist\x3d3155 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs9798871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs9798871 rs9798871 rs9798871 rs9798871 1 1538 10 1/0 0,99,192 +rs113116640 3 75718298 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718298 75718298 Chr3(GRCh37):g.75718298C>T *3106 *3106 NM_001124759.3:c.*3106C>T p.? p.? 4 3621 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs113116640 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.117 170 PASS . . . . . . . . . . . . . . . . 0.20291026 . . @ 502 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2474.0 . . . . . . . . . . 0.5922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.57 0.34 182 ENSG00000236138 . . . dist\x3d1930\x3bdist\x3d3134 dist\x3d1930\x3bdist\x3d3134 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.15 rs113116640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-170 . . . . . . . . . . . . . . rs113116640 rs113116640 1 1538 12 1/0 0,99,167 +rs796461170 3 75718299 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718299 75718299 Chr3(GRCh37):g.75718299G>A *3107 *3107 NM_001124759.3:c.*3107G>A p.? p.? 4 3622 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796461170 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 6 0 0 0 0 2 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4400 Genomes transition G A G>A 0.000 0.044 135 PASS . . . . . . . . . . . . . . . . 0.148 . . @ 370 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2500.0 . . . . . . . . . . 0.6844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.53 0.37 182 ENSG00000236138 . . . dist\x3d1931\x3bdist\x3d3133 dist\x3d1931\x3bdist\x3d3133 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 0 . . . . . . . . . . . . 1.0E-135 . . . . . . . . . . . . . . . . 1 1538 12 1/0 0,95,180 +rs187800837 3 75718316 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718316 75718316 Chr3(GRCh37):g.75718316C>T *3124 *3124 NM_001124759.3:c.*3124C>T p.? p.? 4 3639 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs187800837 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 0.932 149 PASS . . . . . . . . . . . . . . . . 0.15519126 . . @ 426 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2745.0 . . . . . . . . . . 0.9047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.38 182 ENSG00000236138 . . . dist\x3d1948\x3bdist\x3d3116 dist\x3d1948\x3bdist\x3d3116 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 rs187800837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-149 . . . . . . . . . . . . . . rs187800837 rs187800837 1 1538 12 1/0 0,91,177 +rs75469027 3 75718317 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718317 75718317 Chr3(GRCh37):g.75718317G>A *3125 *3125 NM_001124759.3:c.*3125G>A p.? p.? 4 3640 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs75469027 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 31364 Genomes transition G A G>A 0.000 -1.893 157 PASS . . . . . . . . . . . . . . . . 0.22052401 . . @ 606 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2748.0 . . . . . . . . . . 0.3985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.35 182 ENSG00000236138 . . . dist\x3d1949\x3bdist\x3d3115 dist\x3d1949\x3bdist\x3d3115 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.27 rs75469027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 . . . . . . . . . . . . . 1.0E-157 . . . . . . . . . . . . rs34867517 rs34867517 rs75469027 rs199979427 1 1538 12 1/0 0,99,163 +rs796598017 3 75718320 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718320 75718320 Chr3(GRCh37):g.75718320G>A *3128 *3128 NM_001124759.3:c.*3128G>A p.? p.? 4 3643 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796598017 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 4 2 0 0 0 2 8 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3785 Genomes transition G A G>A 0.000 -1.167 126 PASS . . . . . . . . . . . . . . . . 0.108634114 . . @ 307 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2826.0 . . . . . . . . . . 0.6157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.52 0.42 182 ENSG00000236138 . . . dist\x3d1952\x3bdist\x3d3112 dist\x3d1952\x3bdist\x3d3112 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-126 . . . . . . . . . . . . rs36103403 rs36103403 . . 1 1538 12 1/0 0,85,192 +rs796193564 3 75718329 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718329 75718329 Chr3(GRCh37):g.75718329G>A *3137 *3137 NM_001124759.3:c.*3137G>A p.? p.? 4 3652 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796193564 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 37082 Genomes transition G A G>A 0.000 0.044 125 PASS . . . . . . . . . . . . . . . . 0.14724354 . . @ 422 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2866.0 . . . . . . . . . . 0.5880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.55 0.4 182 ENSG00000236138 . . . dist\x3d1961\x3bdist\x3d3103 dist\x3d1961\x3bdist\x3d3103 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 . . . . . . . . . . . . . 1.0E-125 . . . . . . . . . . . . . . . . 1 1538 12 1/0 0,90,179 +rs796448950 3 75718339 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718339 75718339 Chr3(GRCh37):g.75718339C>T *3147 *3147 NM_001124759.3:c.*3147C>T p.? p.? 4 3662 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796448950 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 2 2 0 0 0 2 6 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5477 Genomes transition C T C>T 0.000 -0.682 103 PASS . . . . . . . . . . . . . . . . 0.1073539 . . @ 327 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3046.0 . . . . . . . . . . 0.2242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.4 182 ENSG00000236138 . . . dist\x3d1971\x3bdist\x3d3093 dist\x3d1971\x3bdist\x3d3093 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-103 . . . . . . . . . . . . . rs71247681 . . 1 1538 12 1/0 0,84,194 +rs376433595 3 75718340 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718340 75718340 Chr3(GRCh37):g.75718340G>A *3148 *3148 NM_001124759.3:c.*3148G>A p.? p.? 4 3663 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 New Acceptor Site 75718342 1.08868 0.055001 71.384 rs376433595 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 2 2 0 0 0 0 12 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4252 Genomes transition G A G>A 0.000 -0.602 106 PASS . . . . . . . . . . . . . . . . 0.14355628 . . @ 440 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3065.0 . . . . . . . . . . 0.5770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1972\x3bdist\x3d3092 dist\x3d1972\x3bdist\x3d3092 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.27 rs376433595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 . 0 . . . . . . . . . . . 1.0E-106 . . . . . . . . . . . . . . rs376433595 rs376433595 1 1538 12 1/0 0,91,183 +rs796290132 3 75718346 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718346 75718346 Chr3(GRCh37):g.75718346C>T *3154 *3154 NM_001124759.3:c.*3154C>T p.? p.? 4 3669 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796290132 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.763 127 PASS . . . . . . . . . . . . . . . . 0.14400515 . . @ 448 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3111.0 . . . . . . . . . . 0.3990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.63 0.39 182 ENSG00000236138 . . . dist\x3d1978\x3bdist\x3d3086 dist\x3d1978\x3bdist\x3d3086 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . . . 1 1538 12 1/0 0,86,181 +rs201901848 3 75718347 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718347 75718347 Chr3(GRCh37):g.75718347G>A *3155 *3155 NM_001124759.3:c.*3155G>A p.? p.? 4 3670 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs201901848 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 4 2 0 0 0 0 14 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3509 Genomes transition G A G>A 0.000 -0.682 145 PASS . . . . . . . . . . . . . . . . 0.16560306 . . @ 519 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3134.0 . . . . . . . . . . 0.5029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.4 182 ENSG00000236138 . . . dist\x3d1979\x3bdist\x3d3085 dist\x3d1979\x3bdist\x3d3085 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.31 rs201901848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 . 0 . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . rs36144869 rs36144869 rs201901848 rs201901848 1 1538 12 1/0 0,87,174 +rs369928612 3 75718348 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718348 75718348 Chr3(GRCh37):g.75718348C>T *3156 *3156 NM_001124759.3:c.*3156C>T p.? p.? 4 3671 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs369928612 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 2 0 0 0 0 0 16 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3561 Genomes transition C T C>T 0.000 -0.763 133 PASS . . . . . . . . . . . . . . . . 0.16125955 . . @ 507 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3144.0 . . . . . . . . . . 0.3668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.44 182 ENSG00000236138 . . . dist\x3d1980\x3bdist\x3d3084 dist\x3d1980\x3bdist\x3d3084 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369928612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . 0 . . . . . . . . . . . 1.0E-133 . . . . . . . . . . . . rs34317362 rs34317362 rs369928612 rs369928612 1 1538 12 1/0 0,87,174 +rs9755233 3 75718353 T C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718353 75718353 Chr3(GRCh37):g.75718353T>C *3161 *3161 NM_001124759.3:c.*3161T>C p.? p.? 4 3676 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs9755233 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 36144 Genomes transition T C T>C 0.000 -2.861 255 PASS . . . . . . . . . . . . . . . . 0.7101081 . . @ 2234 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3146.0 . . . . . . . . . . -0.0889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.57 0.43 182 ENSG00000236138 . . . dist\x3d1985\x3bdist\x3d3079 dist\x3d1985\x3bdist\x3d3079 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.77 rs145525581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9755233 rs9755233 rs9755233 rs145525581 1 1538 12 1/0 0,115,110 +rs148838607 3 75718354 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718354 75718354 Chr3(GRCh37):g.75718354G>A *3162 *3162 NM_001124759.3:c.*3162G>A p.? p.? 4 3677 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs148838607 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 4 2 0 0 0 6 12 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 2759 Genomes transition G A G>A 0.000 -1.409 128 PASS . . . . . . . . . . . . . . . . 0.15461347 . . @ 496 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3208.0 . . . . . . . . . . 0.4922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.41 182 ENSG00000236138 . . . dist\x3d1986\x3bdist\x3d3078 dist\x3d1986\x3bdist\x3d3078 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148838607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-128 . . . . . . . . . . . . . rs67157308 rs148838607 rs148838607 1 1538 12 1/0 0,86,177 +rs796981096 3 75718367 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718367 75718367 Chr3(GRCh37):g.75718367C>T *3175 *3175 NM_001124759.3:c.*3175C>T p.? p.? 4 3690 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796981096 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.440 128 PASS . . . . . . . . . . . . . . . . 0.18763134 . . @ 625 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3331.0 . . . . . . . . . . 0.5875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.59 0.39 182 ENSG00000236138 . . . dist\x3d1999\x3bdist\x3d3065 dist\x3d1999\x3bdist\x3d3065 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-128 . . . . . . . . . . . . . rs71235927 . . 1 1538 12 1/0 0,90,169 +rs373780336 3 75718368 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718368 75718368 Chr3(GRCh37):g.75718368G>A *3176 *3176 NM_001124759.3:c.*3176G>A p.? p.? 4 3691 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs373780336 no no 0 G 0.000000 0 transition G A G>A 0.000 0.125 186 PASS . . . . . . . . . . . . . . . . 0.21434899 . . @ 726 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3387.0 . . . . . . . . . . 0.7148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.4 182 ENSG00000236138 . . . dist\x3d2000\x3bdist\x3d3064 dist\x3d2000\x3bdist\x3d3064 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.18 rs373780336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . rs36127306 rs36127306 rs373780336 rs373780336 1 1538 12 1/0 0,87,165 +rs62248001 (chr3:75718374 G/A) 3 75718374 G A Not on a known gene +rs796916969 (chr3:75718378 C/T) 3 75718378 C T Not on a known gene +rs375698359 (chr3:75718379 G/A) 3 75718379 G A Not on a known gene +. (chr3:75718382 G/A) 3 75718382 G A Not on a known gene +rs796400927 (chr3:75718387 C/T) 3 75718387 C T Not on a known gene +rs201273798 (chr3:75718388 G/A) 3 75718388 G A Not on a known gene +rs372938746 (chr3:75718399 C/T) 3 75718399 C T Not on a known gene +rs878918956 (chr3:75718400 G/A) 3 75718400 G A Not on a known gene +rs113405216 (chr3:75718412 C/T) 3 75718412 C T Not on a known gene +rs796830802 (chr3:75718431 G/A) 3 75718431 G A Not on a known gene +rs375905227 (chr3:75718445 G/A) 3 75718445 G A Not on a known gene +rs141907992 (chr3:75718447 C/T) 3 75718447 C T Not on a known gene +rs191107227 (chr3:75718448 G/A) 3 75718448 G A Not on a known gene +rs370358827 (chr3:75718482 C/T) 3 75718482 C T Not on a known gene +rs148149739 (chr3:75718483 G/A) 3 75718483 G A Not on a known gene +rs372560902 (chr3:75718515 G/A) 3 75718515 G A Not on a known gene +. (chr3:75718539 G/C) 3 75718539 G C Not on a known gene +rs796457456 (chr3:75718548 C/T) 3 75718548 C T Not on a known gene +rs200379164 (chr3:75718549 G/A) 3 75718549 G A Not on a known gene +rs796597565 (chr3:75718550 C/T) 3 75718550 C T Not on a known gene +rs371101263 (chr3:75718552 C/T) 3 75718552 C T Not on a known gene +rs796331509 (chr3:75718554 C/T) 3 75718554 C T Not on a known gene +rs62248002 (chr3:75718555 G/A) 3 75718555 G A Not on a known gene +. (chr3:75718558 C/G) 3 75718558 C G Not on a known gene +rs368475864 (chr3:75718564 C/T) 3 75718564 C T Not on a known gene +rs189438805 (chr3:75718565 G/A) 3 75718565 G A Not on a known gene +rs878905437 (chr3:75718576 C/T) 3 75718576 C T Not on a known gene +rs796112200 (chr3:75718579 G/A) 3 75718579 G A Not on a known gene +. (chr3:75718586 A/G) 3 75718586 A G Not on a known gene +rs796308557 (chr3:75718587 G/T) 3 75718587 G T Not on a known gene +rs796927598 (chr3:75718588 C/T) 3 75718588 C T Not on a known gene +rs75922170 3 75779649 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779649 75779649 Chr3(GRCh37):g.75779649T>G *6380 *6380 NM_001128223.2:c.*6380A>C p.? p.? 5 8848 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs75922170 no no 0 T 0.000000 0 transversion A C A>C 0.157 0.367 255 PASS . . . . . . . . . . . . . . . . 0.3943662 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . 0.0322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.57 0.6 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*115A>C dist\x3d51195\x3bdist\x3d6380 NM_001290210:c.*115A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75922170 0.141 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs75922170 rs139049940 1 1538 10 1/0 0,255,255 +rs78431785 3 75779680 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779680 75779680 Chr3(GRCh37):g.75779680A>G *6349 *6349 NM_001128223.2:c.*6349T>C p.? p.? 5 8817 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs78431785 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.291 0.367 255 PASS . . . . . . . . . . . . . . . . 0.48387095 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . 0.1433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.52 0.49 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*84T>C dist\x3d51226\x3bdist\x3d6349 NM_001290210:c.*84T>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78431785 0.163 0.123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs78431785 rs202008230 1 1538 10 1/0 0,255,255 +rs78506989 3 75779688 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779688 75779688 Chr3(GRCh37):g.75779688T>G *6341 *6341 NM_001128223.2:c.*6341A>C p.? p.? 5 8809 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs78506989 yes no Frequency 1 T 0.000000 0 transversion A C A>C 0.307 0.367 255 PASS . . . . . . . . . . . . . . . . 0.46067417 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.0498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.55 0.47 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*76A>C dist\x3d51234\x3bdist\x3d6341 NM_001290210:c.*76A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78506989 0.163 0.123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs78506989 rs199773894 1 1538 10 1/0 0,255,255 +rs77079546 3 75779709 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779709 75779709 Chr3(GRCh37):g.75779709C>T *6320 *6320 NM_001128223.2:c.*6320G>A p.? p.? 5 8788 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77079546 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.063 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.76086956 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.8731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.53 0.5 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*55G>A dist\x3d51255\x3bdist\x3d6320 NM_001290210:c.*55G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs77079546 0.467 0.471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 . . rs77079546 rs147717594 1 1538 10 1/0 0,255,255 +rs78030541 3 75779719 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779719 75779719 Chr3(GRCh37):g.75779719T>C *6310 *6310 NM_001128223.2:c.*6310A>G p.? p.? 5 8778 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs78030541 no no 0 T 0.000000 0 transition A G A>G 0.008 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44210526 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.4128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.53 0.46 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*45A>G dist\x3d51265\x3bdist\x3d6310 NM_001290210:c.*45A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78030541 0.413 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.41 . . rs78030541 rs199968937 1 1538 10 1/0 0,255,255 +rs73841586 3 75779742 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779742 75779742 Chr3(GRCh37):g.75779742G>A *6287 *6287 NM_001128223.2:c.*6287C>T p.? p.? 5 8755 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs73841586 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.602 240 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.5476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.49 0.44 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*22C>T dist\x3d51288\x3bdist\x3d6287 NM_001290210:c.*22C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73841586 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . 0.022 . rs73841586 rs73841586 rs141228270 1 1538 10 1/0 0,249,255 +rs150390185 3 75779760 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779760 75779760 Chr3(GRCh37):g.75779760G>T *6269 *6269 NM_001128223.2:c.*6269C>A p.? p.? 5 8737 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs150390185 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.844 189 PASS . . . . . . . . . . . . . . . . 0.13414635 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.4967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.46 0.5 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*4C>A dist\x3d51306\x3bdist\x3d6269 NM_001290210:c.*4C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs150390185 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.011 rs4847438 rs4847438 rs150390185 rs150390185 1 1538 10 1/0 0,238,255 +rs73841587 3 75779762 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779762 75779762 Chr3(GRCh37):g.75779762G>T *6267 *6267 NM_001128223.2:c.*6267C>A p.? p.? 5 8735 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs73841587 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.844 238 PASS . . . . . . . . . . . . . . . . 0.2682927 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.4692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.46 0.44 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*2C>A dist\x3d51308\x3bdist\x3d6267 NM_001290210:c.*2C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73841587 0.098 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . 0.098 . rs73841587 rs73841587 rs144623265 1 1538 10 1/0 0,250,255 +. 3 75779777 TA T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion downstream GRCh37 75779778 75779778 Chr3(GRCh37):g.75779778del *6251 *6251 NM_001128223.2:c.*6251del p.? p.? 5 8719 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 T 255 Pass . . . . . . . . . . . . . . . . 0.7 . . . 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 70 . . INTRON(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000227124 . ZNF717 . dist\x3d51324\x3bdist\x3d6251 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147133731 0.467 0.464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 rs33966701 rs33966701 rs33966701 rs147133731 1 1538 10 1.I 0,10,15 +rs141311667 3 75779788 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779788 75779788 Chr3(GRCh37):g.75779788G>C *6241 *6241 NM_001128223.2:c.*6241C>G p.? p.? 5 8709 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs141311667 no no 0 G 0.000000 0 transversion C G C>G 0.055 -0.844 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . INTRON(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|) . . . . . . . -0.4265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.49 0.22 182 ENSG00000227124 . ZNF717 . dist\x3d51334\x3bdist\x3d6241 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs141311667 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.011 rs4847437 rs4847437 rs141311667 rs141311667 1 1538 10 1/0 0,250,255 +. 3 75781138 A AT - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 duplication downstream GRCh37 75781138 75781139 Chr3(GRCh37):g.75781139dup *4890 *4890 NM_001128223.2:c.*4890dup p.? p.? 5 7358 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs148038933 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . . . . . 0.22352941 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000227124 . ZNF717 . dist\x3d52684\x3bdist\x3d4891 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs148038933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148038933 rs148038933 1 1538 10 1.I 0,8,65 +rs74413854 3 75781145 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781145 75781145 Chr3(GRCh37):g.75781145C>G *4884 *4884 NM_001128223.2:c.*4884G>C p.? p.? 5 7352 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs74413854 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.146 0.125 220 PASS . . . . . . . . . . . . . . . . 0.21518987 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.2817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.3 0.18 182 ENSG00000227124 . ZNF717 . dist\x3d52691\x3bdist\x3d4884 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs74413854 0.076 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.076 . . rs74413854 rs188151413 1 1538 10 1/0 0,247,255 +rs78304757 3 75781149 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781149 75781149 Chr3(GRCh37):g.75781149T>A *4880 *4880 NM_001128223.2:c.*4880A>T p.? p.? 5 7348 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs78304757 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.142 0.125 255 PASS . . . . . . . . . . . . . . . . 0.38372093 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.2881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.29 0.15 182 ENSG00000227124 . ZNF717 . dist\x3d52695\x3bdist\x3d4880 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs78304757 0.130 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.13 . . rs78304757 rs140703330 1 1538 10 1/0 0,255,255 +. 3 75781152 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781152 75781152 Chr3(GRCh37):g.75781152A>G *4877 *4877 NM_001128223.2:c.*4877T>C p.? p.? 5 7345 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition T C T>C 0.138 0.125 218 PASS . . . . . . . . . . . . . . . . 0.20987654 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . -0.2925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.25 0.17 182 ENSG00000227124 . ZNF717 . dist\x3d52698\x3bdist\x3d4877 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs146878854 0.076 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . 0.076 rs2890206 rs2890206 rs77672199 rs146878854 1 1538 10 1/0 0,245,255 +rs62250083 3 75781173 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781173 75781173 Chr3(GRCh37):g.75781173G>T *4856 *4856 NM_001128223.2:c.*4856C>A p.? p.? 5 7324 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs62250083 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.114 0.125 255 PASS . . . . . . . . . . . . . . . . 0.6448598 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.3077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.26 0.12 182 ENSG00000227124 . ZNF717 . dist\x3d52719\x3bdist\x3d4856 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs62250083 0.326 0.290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs62250083 rs62250083 rs62250083 rs202102626 1 1538 10 1/0 0,255,255 +rs74880772 3 75781180 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781180 75781180 Chr3(GRCh37):g.75781180T>G *4849 *4849 NM_001128223.2:c.*4849A>C p.? p.? 5 7317 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs74880772 yes no Frequency 1 T 0.000000 0 transversion A C A>C 0.087 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44036698 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.3320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.27 0.14 182 ENSG00000227124 . ZNF717 . dist\x3d52726\x3bdist\x3d4849 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs74880772 0.152 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 rs1906782 rs1906782 rs74880772 rs200635110 1 1538 10 1/0 0,252,255 +rs75946221 3 75781186 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781186 75781186 Chr3(GRCh37):g.75781186G>A *4843 *4843 NM_001128223.2:c.*4843C>T p.? p.? 5 7311 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs75946221 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.063 0.125 215 PASS . . . . . . . . . . . . . . . . 0.1981982 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.3468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.26 0.1 182 ENSG00000227124 . ZNF717 . dist\x3d52732\x3bdist\x3d4843 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs75946221 0.174 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . 0.17 rs1906781 rs1906781 rs75946221 rs145628199 1 1538 10 1/0 0,230,255 +rs62250085 3 75781243 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781243 75781243 Chr3(GRCh37):g.75781243T>C *4786 *4786 NM_001128223.2:c.*4786A>G p.? p.? 5 7254 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Weakly Activated 75781232 5.25327 0.75878 82.2851 6.49891 0.814095 82.2851 rs62250085 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.122 0.125 255 PASS . . . . . . . . . . . ENSG00000227124:ENST00000477374:exon5:c.A307G:p.I103V . ZNF717:NM_001290210:exon5:c.A307G:p.I103V . . 0.42592594 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.001 . . 108.0 . . . . . . . . . . -0.8210 -1.040 -0.821 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.008 . . exonic intergenic exonic . . . @ . . . 0.25 0.19 182 ENSG00000227124 . ZNF717 . dist\x3d52789\x3bdist\x3d4786 . 1.000 0.417 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.116 0.005 . . 37 . 0.007 . . 0.464 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.087 . . . . . . . 0.227 . HET . rs62250085 0.217 0.210 . . . . . . . . . . . . ENST00000477374 . . . 0.560000 . . . . . . 0.033 . . . . . . . . . . . . . . . . . . . . . . 0.372 . 0.103 0.103000 . . 0.560000 . . 1.0E-255 0.175 0.238 . 0.219 0.197 . 0.159 . 0.246 0.103 0.062 0.22 rs62250085 rs62250085 rs62250085 rs150979925 1 1538 10 1/0 0,253,255 +rs79724453 3 75781272 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781272 75781272 Chr3(GRCh37):g.75781272C>A *4757 *4757 NM_001128223.2:c.*4757G>T p.? p.? 5 7225 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79724453 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.020 0.125 244 PASS . . . . . . . . . . . ENSG00000227124:ENST00000477374:exon5:c.G278T:p.G93V . ZNF717:NM_001290210:exon5:c.G278T:p.G93V . . 0.28723404 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.109 . @ . . . . . 1 0.073 . . 94.0 . . . . . . . . . . -0.8548 -1.095 -0.855 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.008 . . exonic intergenic exonic . . . @ . . . 0.23 0.15 182 ENSG00000227124 . ZNF717 . dist\x3d52818\x3bdist\x3d4757 . 1.000 0.417 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.007 . . 0.477 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.486 . . . . . . . 0.261 . HET . rs79724453 0.217 0.203 . . . . . . . . . . . . ENST00000477374 . . . 0.470000 . . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . 0.372 . 0.119 0.119000 . . 0.470000 . . 1.0000000000000001E-244 0.024 0.198 . 0.128 0.055 . 0.159 . 0.240 0.119 0.057 0.22 rs1906780 rs1906780 rs79724453 rs138244060 1 1538 10 1/0 0,246,255 +rs111349601 3 75781300 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781300 75781300 Chr3(GRCh37):g.75781300T>C *4729 *4729 NM_001128223.2:c.*4729A>G p.? p.? 5 7197 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 New Acceptor Site 75781299 8.12225 0.520981 74.9594 rs111349601 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.016 0.125 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.3835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.27 0.13 182 ENSG00000227124 . ZNF717 . dist\x3d52846\x3bdist\x3d4729 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs111349601 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . 0.011 rs4011143 rs4011143 rs111349601 rs111349601 1 1538 10 1/0 0,250,255 +rs79959645 3 75785999 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75785999 75785999 Chr3(GRCh37):g.75785999A>G -1432 -1432 NR_036235.1:n.-1432A>G p.? p.? 1 rs79959645 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18596 2970 3380 442 1776 1880 7302 302 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 44 Exomes transition A G A>G 0.000 0.448 248 PASS . . . . . . . . . . . . . . . . 0.30097088 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.0276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.36 0.53 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*30T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs79959645 0.196 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.2 . . rs79959645 rs201598653 1 1538 10 1/0 0,242,255 +rs79959645 3 75785999 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75785999 75785999 Chr3(GRCh37):g.75785999A>G *30 *30 NM_001128223.2:c.*30T>C p.? p.? 5 2498 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79959645 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18596 2970 3380 442 1776 1880 7302 302 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 44 Exomes transition T C T>C 0.000 0.448 248 PASS . . . . . . . . . . . . . . . . 0.30097088 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.0276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.36 0.53 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*30T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs79959645 0.196 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.2 . . rs79959645 rs201598653 1 1538 10 1/0 0,242,255 +. 3 75786007 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786007 75786007 Chr3(GRCh37):g.75786007C>T -1424 -1424 NR_036235.1:n.-1424C>T p.? p.? 1 transition C T C>T 0.000 -0.360 251 PASS . . . . . . . . . . . . . . . . 0.3084112 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.1954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.29 0.54 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*22G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs199857928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs79144452 rs199857928 1 1538 10 1/0 0,241,255 +. 3 75786007 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75786007 75786007 Chr3(GRCh37):g.75786007C>T *22 *22 NM_001128223.2:c.*22G>A p.? p.? 5 2490 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 New Acceptor Site 75786005 3.83885 0.317394 72.7785 transition G A G>A 0.000 -0.360 251 PASS . . . . . . . . . . . . . . . . 0.3084112 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.1954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.29 0.54 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*22G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs199857928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs79144452 rs199857928 1 1538 10 1/0 0,241,255 +. 3 75786008 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786008 75786008 Chr3(GRCh37):g.75786008A>G -1423 -1423 NR_036235.1:n.-1423A>G p.? p.? 1 transition A G A>G 0.000 -1.732 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . -0.6127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.33 0.5 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*21T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs201202549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs79244583 rs201202549 1 1538 10 1/0 0,238,255 +. 3 75786008 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75786008 75786008 Chr3(GRCh37):g.75786008A>G *21 *21 NM_001128223.2:c.*21T>C p.? p.? 5 2489 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition T C T>C 0.000 -1.732 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . -0.6127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.33 0.5 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*21T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs201202549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs79244583 rs201202549 1 1538 10 1/0 0,238,255 +rs76880869 3 75786019 G C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786019 75786019 Chr3(GRCh37):g.75786019G>C -1412 -1412 NR_036235.1:n.-1412G>C p.? p.? 1 rs76880869 no no 0 G 0.000000 0 transversion G C G>C 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.38679245 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.1386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.38 0.51 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*10C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs76880869 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76880869 rs142183924 1 1538 10 1/0 0,248,255 +rs76880869 3 75786019 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75786019 75786019 Chr3(GRCh37):g.75786019G>C *10 *10 NM_001128223.2:c.*10C>G p.? p.? 5 2478 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76880869 no no 0 G 0.000000 0 transversion C G C>G 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.38679245 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.1386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.38 0.51 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*10C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs76880869 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76880869 rs142183924 1 1538 10 1/0 0,248,255 +. 3 75786020 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786020 75786020 Chr3(GRCh37):g.75786020G>A -1411 -1411 NR_036235.1:n.-1411G>A p.? p.? 1 transition G A G>A 0.000 0.205 231 PASS . . . . . . . . . . . . . . . . 0.24770643 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.0200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.38 0.51 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*9C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs151189863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs9970300 rs9970300 rs75933393 rs151189863 1 1538 10 1/0 0,235,255 +. 3 75786020 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75786020 75786020 Chr3(GRCh37):g.75786020G>A *9 *9 NM_001128223.2:c.*9C>T p.? p.? 5 2477 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition C T C>T 0.000 0.205 231 PASS . . . . . . . . . . . . . . . . 0.24770643 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.0200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.38 0.51 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*9C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs151189863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs9970300 rs9970300 rs75933393 rs151189863 1 1538 10 1/0 0,235,255 +. 3 75786035 G GAA - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 duplication upstream GRCh37 75786041 75786042 Chr3(GRCh37):g.75786040_75786041dup -1391 -1390 NR_036235.1:n.-1391_-1390dup p.? p.? 1 AA 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2738_2739insTT:p.F913fs . . . 0.3761468 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,42 +. 3 75786035 G GAA - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 duplication frameshift exon GRCh37 75786035 75786036 Chr3(GRCh37):g.75786036_75786037dup 2737 2738 NM_001128223.2:c.2737_2738dup p.Pro914Serfs*? p.Pro914Serfs*? 5 2461 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 TT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2738_2739insTT:p.F913fs . . . 0.3761468 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,42 +rs113748085 3 75786036 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786036 75786036 Chr3(GRCh37):g.75786036A>G -1395 -1395 NR_036235.1:n.-1395A>G p.? p.? 1 rs113748085 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.000 0.286 199 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2738C:p.F913S . . . 0.1574074 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.280 . @ . . . . . 1 0.203 . . 108.0 . . . . . . . . . . -1.0460 -1.207 -1.046 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.132 @ . . . 0.24 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.026 . . 0.427 . . . 0.710 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.049 . . 0 0 0 0 0 0 . 0.475 . . 0.342 . . . . . . 1 0.506 . . . . . 0.118 . 0.586 . HET 0 rs113748085 . . . . . . . . . . . . IV.44 . . I.43 -0.0291 . 0.000000 C9JSV9 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.143 -0.143000 . . 0.000000 . . 1.0E-199 0.000 0.063 . 0.137 0.232 . 0.020 . 0.287 -0.143 0.066 . . . rs113748085 rs113748085 1 1538 10 1/0 0,228,255 +rs113748085 3 75786036 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786036 75786036 Chr3(GRCh37):g.75786036A>G 2738 2738 NM_001128223.2:c.2738T>C p.Phe913Ser p.Phe913Ser 5 2461 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs113748085 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.000 0.286 F Phe TTC 0.546 S Ser TCC 0.220 913 10 1 -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 353.86 0.00 Tolerated 0.34 IV.32 199 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2738C:p.F913S . . . 0.1574074 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.280 . @ . . . . . 1 0.203 . . 108.0 . . . . . . . . . . -1.0460 -1.207 -1.046 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.132 @ . . . 0.24 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.026 . . 0.427 . . . 0.710 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.049 . . 0 0 0 0 0 0 . 0.475 . . 0.342 . . . . . . 1 0.506 . . . . . 0.118 . 0.586 . HET 0 rs113748085 . . . . . . . . . . . . IV.44 . . I.43 -0.0291 . 0.000000 C9JSV9 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.143 -0.143000 . . 0.000000 . . 1.0E-199 0.000 0.063 . 0.137 0.232 . 0.020 . 0.287 -0.143 0.066 . . . rs113748085 rs113748085 1 1538 10 1/0 0,228,255 +. 3 75786041 AG A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75786042 75786042 Chr3(GRCh37):g.75786042del -1389 -1389 NR_036235.1:n.-1389del p.? p.? 1 rs150497643 no no 0 G 0.000000 0 G 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2732delC:p.S911fs . . . 0.15929204 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150497643 0.033 0.022 . . . . ID\x3dCOSM1425316\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . rs67410759 rs67410759 rs150497643 1 1538 10 1.I 0,6,80 +. 3 75786041 AG A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion frameshift exon GRCh37 75786042 75786042 Chr3(GRCh37):g.75786042del 2732 2732 NM_001128223.2:c.2732del p.Ser911Phefs*? p.Ser911Phefs*? 5 2455 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs150497643 no no 0 G 0.000000 0 C 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2732delC:p.S911fs . . . 0.15929204 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150497643 0.033 0.022 . . . . ID\x3dCOSM1425316\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . rs67410759 rs67410759 rs150497643 1 1538 10 1.I 0,6,80 +rs77747132 3 75786042 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786042 75786042 Chr3(GRCh37):g.75786042G>A -1389 -1389 NR_036235.1:n.-1389G>A p.? p.? 1 rs77747132 no no 0 G 0.000000 0 transition G A G>A 0.000 0.367 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2732T:p.S911F . . . 0.5 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.460 . @ . . . . . 1 0.547 . . 112.0 . . . . . . . . . . -1.2399 -1.319 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . 0.105 @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.039 . . 0.439 . . . 0.902 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.178 . . 0.063 . . . . . . 1 0.427 . . . . . 0.160 . 0.526 . HET 0 rs77747132 0.011 0.007 . . . . . . . . . . V.86 . . I.54 -0.734 . 0.300000 C9JSV9 . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.244 -0.244000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.090 0.253 . 0.054 . 0.282 -0.244 0.060 0.011 . . rs77747132 rs140243156 1 1538 10 1/0 0,255,255 +rs77747132 3 75786042 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786042 75786042 Chr3(GRCh37):g.75786042G>A 2732 2732 NM_001128223.2:c.2732C>T p.Ser911Phe p.Ser911Phe 5 2455 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77747132 no no 0 G 0.000000 0 transition C T C>T 0.000 0.367 S Ser TCT 0.185 F Phe TTT 0.454 911 10 2 Cat -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C0 353.86 0.00 Deleterious 0.01 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2732T:p.S911F . . . 0.5 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.460 . @ . . . . . 1 0.547 . . 112.0 . . . . . . . . . . -1.2399 -1.319 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . 0.105 @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.039 . . 0.439 . . . 0.902 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.178 . . 0.063 . . . . . . 1 0.427 . . . . . 0.160 . 0.526 . HET 0 rs77747132 0.011 0.007 . . . . . . . . . . V.86 . . I.54 -0.734 . 0.300000 C9JSV9 . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.244 -0.244000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.090 0.253 . 0.054 . 0.282 -0.244 0.060 0.011 . . rs77747132 rs140243156 1 1538 10 1/0 0,255,255 +rs73843008 3 75786059 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786059 75786059 Chr3(GRCh37):g.75786059C>T -1372 -1372 NR_036235.1:n.-1372C>T p.? p.? 1 rs73843008 no no 0 C 0.000000 0 transition C T C>T 0.000 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2715A:p.V905V . . . 0.6813187 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.1097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73843008 0.250 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.25 . rs73843008 rs73843008 rs145338111 1 1538 10 1/0 0,255,254 +rs73843008 3 75786059 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786059 75786059 Chr3(GRCh37):g.75786059C>T 2715 2715 NM_001128223.2:c.2715G>A p.Val905= p.Val905Val 5 2438 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs73843008 no no 0 C 0.000000 0 transition G A G>A 0.000 -0.117 V Val GTG 0.468 V Val GTA 0.114 905 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2715A:p.V905V . . . 0.6813187 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.1097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73843008 0.250 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.25 . rs73843008 rs73843008 rs145338111 1 1538 10 1/0 0,255,254 +. 3 75786060 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786060 75786060 Chr3(GRCh37):g.75786060A>G -1371 -1371 NR_036235.1:n.-1371A>G p.? p.? 1 transition A G A>G 0.000 1.335 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2714C:p.V905A . . . 0.46078432 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.115 . . 102.0 . . . . . . . . . . -1.2089 -1.231 -1.209 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.060 . . exonic exonic exonic . . 0.235 @ . . . 0.28 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.026 . . 0.426 . . . 0.041 0.195 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.245 . . 0.133 . . . . . . 1 0.010 . . . . . 0.252 . 0.599 . HET 0.31 rs137915102 . . . . . . . . . . . . VII.77 . . I.73 I.73 . 1.000000 C9JSV9 . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.823 0.823000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.122 0.280 . 0.071 . 0.287 0.823 0.066 . . . rs76046078 rs137915102 1 1538 10 1/0 0,255,255 +. 3 75786060 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786060 75786060 Chr3(GRCh37):g.75786060A>G 2714 2714 NM_001128223.2:c.2714T>C p.Val905Ala p.Val905Ala 5 2437 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition T C T>C 0.000 1.335 V Val GTG 0.468 A Ala GCG 0.107 905 10 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.22 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2714C:p.V905A . . . 0.46078432 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.115 . . 102.0 . . . . . . . . . . -1.2089 -1.231 -1.209 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.060 . . exonic exonic exonic . . 0.235 @ . . . 0.28 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.026 . . 0.426 . . . 0.041 0.195 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.245 . . 0.133 . . . . . . 1 0.010 . . . . . 0.252 . 0.599 . HET 0.31 rs137915102 . . . . . . . . . . . . VII.77 . . I.73 I.73 . 1.000000 C9JSV9 . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.823 0.823000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.122 0.280 . 0.071 . 0.287 0.823 0.066 . . . rs76046078 rs137915102 1 1538 10 1/0 0,255,255 +rs111230396 3 75786071 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786071 75786071 Chr3(GRCh37):g.75786071C>A -1360 -1360 NR_036235.1:n.-1360C>A p.? p.? 1 rs111230396 no no 0 C 0.000000 0 transversion C A C>A 0.000 0.770 239 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2703T:p.E901D . . . 0.27027026 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.161 . @ . . . . . 1 0.186 . . 111.0 . . . . . . . . . . -1.2254 -1.326 -1.225 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . 0.123 @ . . . 0.24 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.036 . . 0.413 . . . 0.385 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.247 . . 0.112 . . . . . . 1 0.145 . . . . . 0.059 . 0.599 . HET 0 rs111230396 0.239 0.225 . . . . . . . . . . 3.1153 . . 0.741 -0.249 . 0.170000 C9JSV9 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.078 -0.078000 . . 0.170000 . . 1.0E-239 0.001 0.137 . 0.062 0.272 . 0.332 . 0.279 -0.078 0.057 0.24 . . rs111230396 rs111230396 1 1538 10 1/0 0,237,255 +rs111230396 3 75786071 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786071 75786071 Chr3(GRCh37):g.75786071C>A 2703 2703 NM_001128223.2:c.2703G>T p.Glu901Asp p.Glu901Asp 5 2426 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs111230396 no no 0 C 0.000000 0 transversion G T G>T 0.000 0.770 E Glu GAG 0.583 D Asp GAT 0.461 901 10 1 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.25 IV.32 239 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2703T:p.E901D . . . 0.27027026 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.161 . @ . . . . . 1 0.186 . . 111.0 . . . . . . . . . . -1.2254 -1.326 -1.225 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . 0.123 @ . . . 0.24 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.036 . . 0.413 . . . 0.385 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.247 . . 0.112 . . . . . . 1 0.145 . . . . . 0.059 . 0.599 . HET 0 rs111230396 0.239 0.225 . . . . . . . . . . 3.1153 . . 0.741 -0.249 . 0.170000 C9JSV9 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.078 -0.078000 . . 0.170000 . . 1.0E-239 0.001 0.137 . 0.062 0.272 . 0.332 . 0.279 -0.078 0.057 0.24 . . rs111230396 rs111230396 1 1538 10 1/0 0,237,255 +. 3 75786079 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786079 75786079 Chr3(GRCh37):g.75786079C>T -1352 -1352 NR_036235.1:n.-1352C>T p.? p.? 1 0.000222 0.000804 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000804 2 2 0 0 0 0 0 0 0 9004 2488 286 38 182 0 3624 2050 336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition C T C>T 0.000 0.125 233 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2695A:p.V899I . . . 0.25233644 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.287 . @ . . . . . 1 0.205 . . 107.0 . . . . . . . . . . -1.2245 -1.312 -1.224 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.153 @ . . . 0.33 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.029 . . 0.414 . . . 0.165 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.061 . . 0 0 0 0 0 0 . 0.285 . . 0.121 . . . . . . 1 0.112 . . . . . 0.080 . 0.555 . HET 0.49 rs202061186 . . . . . . . . . . . . III.87 . . I.29 0.364 . 0.000000 C9JSV9 . . . . . 0.007 . . . . . . . . . . . . 0.0008 0.0002 0 0 0 0 0 0 . . 0.310 . 0.148 0.148000 . . 0.000000 . . 1.0000000000000001E-233 0.000 0.063 . 0.043 0.255 . 0.086 . 0.279 0.148 0.057 . . . rs74593105 rs202061186 1 1538 10 1/0 0,237,255 +. 3 75786079 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786079 75786079 Chr3(GRCh37):g.75786079C>T 2695 2695 NM_001128223.2:c.2695G>A p.Val899Ile p.Val899Ile 5 2418 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 0.000222 0.000804 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000804 2 2 0 0 0 0 0 0 0 9004 2488 286 38 182 0 3624 2050 336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition G A G>A 0.000 0.125 V Val GTA 0.114 I Ile ATA 0.163 899 10 2 Rabbit 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.66 III.95 233 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2695A:p.V899I . . . 0.25233644 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.287 . @ . . . . . 1 0.205 . . 107.0 . . . . . . . . . . -1.2245 -1.312 -1.224 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.153 @ . . . 0.33 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.029 . . 0.414 . . . 0.165 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.061 . . 0 0 0 0 0 0 . 0.285 . . 0.121 . . . . . . 1 0.112 . . . . . 0.080 . 0.555 . HET 0.49 rs202061186 . . . . . . . . . . . . III.87 . . I.29 0.364 . 0.000000 C9JSV9 . . . . . 0.007 . . . . . . . . . . . . 0.0008 0.0002 0 0 0 0 0 0 . . 0.310 . 0.148 0.148000 . . 0.000000 . . 1.0000000000000001E-233 0.000 0.063 . 0.043 0.255 . 0.086 . 0.279 0.148 0.057 . . . rs74593105 rs202061186 1 1538 10 1/0 0,237,255 +rs2118754 3 75786080 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786080 75786080 Chr3(GRCh37):g.75786080G>A -1351 -1351 NR_036235.1:n.-1351G>A p.? p.? 1 rs2118754 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.000055 0.000000 0.000000 0.000000 0.000304 0.000000 0.000072 0.000000 0.000000 0.000304 2 0 0 0 1 0 1 0 0 36360 6230 6052 708 3292 2860 13814 2290 1114 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.054 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2694T:p.D898D . . . 0.7685185 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . -0.8175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.3794 . . . 0.31 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs144586950 0.141 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0003 0 0 0.0076 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs2118754 rs144586950 1 1538 10 1/0 0,255,255 +rs2118754 3 75786080 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786080 75786080 Chr3(GRCh37):g.75786080G>A 2694 2694 NM_001128223.2:c.2694C>T p.Asp898= p.Asp898Asp 5 2417 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs2118754 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.000055 0.000000 0.000000 0.000000 0.000304 0.000000 0.000072 0.000000 0.000000 0.000304 2 0 0 0 1 0 1 0 0 36360 6230 6052 708 3292 2860 13814 2290 1114 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.054 D Asp GAC 0.539 D Asp GAT 0.461 898 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2694T:p.D898D . . . 0.7685185 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . -0.8175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.3794 . . . 0.31 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs144586950 0.141 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0003 0 0 0.0076 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs2118754 rs144586950 1 1538 10 1/0 0,255,255 +rs77715040 3 75786211 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786211 75786211 Chr3(GRCh37):g.75786211A>G -1220 -1220 NR_036235.1:n.-1220A>G p.? p.? 1 rs77715040 no no 0 A 0.000000 0 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000058 0.000000 0.000000 0.000058 1 0 0 0 0 0 1 0 0 43374 4984 8878 1070 5044 4074 17382 712 1230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition A G A>G 0.000 -0.279 238 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2563C:p.S855P . . . 0.26804122 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.505 . @ . . . . . 1 0.385 . . 97.0 . . . . . . . . . . -0.7711 -0.955 -0.771 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.225 @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.140 . . 0.165 . . . 0.433 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.635 . . 0 0 0 0 0 0 . 0.273 . . 0.247 . . . . . . 1 0.538 . . . . . 0.255 . 0.623 . HET 0.15 rs77715040 0.033 0.036 . . . . . . . . . . 7.316 . . I.59 I.59 . 0.000000 C9JSV9 . . . . . 0.032 . . . 0 2.306e-05 0 0 0 0 5.753e-05 0 0 . . . . . . . . . . 0.553 . 1.020 1.020000 . . 0.000000 . . 1.0E-238 0.000 0.063 . 0.074 0.308 . 0.007 . 0.288 1.020 -0.597 0.033 . . rs77715040 rs147483742 1 1538 10 1/0 0,242,255 +rs77715040 3 75786211 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786211 75786211 Chr3(GRCh37):g.75786211A>G 2563 2563 NM_001128223.2:c.2563T>C p.Ser855Pro p.Ser855Pro 5 2286 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77715040 no no 0 A 0.000000 0 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000058 0.000000 0.000000 0.000058 1 0 0 0 0 0 1 0 0 43374 4984 8878 1070 5044 4074 17382 712 1230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition T C T>C 0.000 -0.279 S Ser TCA 0.148 P Pro CCA 0.274 855 10 7 Opossum -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 154.81 0.00 Deleterious 0.03 III.85 238 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2563C:p.S855P . . . 0.26804122 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.505 . @ . . . . . 1 0.385 . . 97.0 . . . . . . . . . . -0.7711 -0.955 -0.771 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.225 @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.140 . . 0.165 . . . 0.433 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.635 . . 0 0 0 0 0 0 . 0.273 . . 0.247 . . . . . . 1 0.538 . . . . . 0.255 . 0.623 . HET 0.15 rs77715040 0.033 0.036 . . . . . . . . . . 7.316 . . I.59 I.59 . 0.000000 C9JSV9 . . . . . 0.032 . . . 0 2.306e-05 0 0 0 0 5.753e-05 0 0 . . . . . . . . . . 0.553 . 1.020 1.020000 . . 0.000000 . . 1.0E-238 0.000 0.063 . 0.074 0.308 . 0.007 . 0.288 1.020 -0.597 0.033 . . rs77715040 rs147483742 1 1538 10 1/0 0,242,255 +rs76757483 3 75786225 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786225 75786225 Chr3(GRCh37):g.75786225G>A -1206 -1206 NR_036235.1:n.-1206G>A p.? p.? 1 rs76757483 no no 0 G 0.000000 0 transition G A G>A 0.000 -1.167 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2549T:p.T850I . . . 0.58947366 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.352 . @ . . . . . 1 0.366 . . 95.0 . . . . . . . . . . -1.1732 -1.408 -1.173 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.048 @ . . . 0.32 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.014 . . 0.377 . . . 0.410 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.341 . . 0.367 . . . . . . 1 0.465 . . . . . 0.012 . 0.535 . HET 0.03 rs76757483 0.065 0.051 . . . . . . . . . . 0.9197 . . I.59 -3.19 . 0.000000 C9JSV9 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -1.280 -1.280000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.135 0.265 . 0.049 . 0.284 -1.280 -0.219 0.065 . . rs76757483 rs145360192 1 1538 10 1/0 0,255,255 +rs76757483 3 75786225 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786225 75786225 Chr3(GRCh37):g.75786225G>A 2549 2549 NM_001128223.2:c.2549C>T p.Thr850Ile p.Thr850Ile 5 2272 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786214 0.405394 0.032027 79.9952 1.14651 0.098923 84.0971 Zinc finger, C2H2 Zinc finger, C2H2-like rs76757483 no no 0 G 0.000000 0 transition C T C>T 0.000 -1.167 T Thr ACT 0.243 I Ile ATT 0.356 850 10 6 Cow -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 116.80 69.06 Deleterious 0.01 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2549T:p.T850I . . . 0.58947366 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.352 . @ . . . . . 1 0.366 . . 95.0 . . . . . . . . . . -1.1732 -1.408 -1.173 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.048 @ . . . 0.32 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.014 . . 0.377 . . . 0.410 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.341 . . 0.367 . . . . . . 1 0.465 . . . . . 0.012 . 0.535 . HET 0.03 rs76757483 0.065 0.051 . . . . . . . . . . 0.9197 . . I.59 -3.19 . 0.000000 C9JSV9 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -1.280 -1.280000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.135 0.265 . 0.049 . 0.284 -1.280 -0.219 0.065 . . rs76757483 rs145360192 1 1538 10 1/0 0,255,255 +rs139633377 3 75786243 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786243 75786243 Chr3(GRCh37):g.75786243C>T -1188 -1188 NR_036235.1:n.-1188C>T p.? p.? 1 rs139633377 no no 0 C 0.000000 0 transition C T C>T 0.606 2.304 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2531A:p.C844Y . . . 0.29787233 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.546 . @ . . . . . 1 0.199 . . 94.0 . . . . . . . . . . 0.1272 -0.201 0.127 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.162 @ . . . 0.29 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.078 0.003 . . 37 . 0.922 . . 0.812 . . . 0.971 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.951 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.170 . 0.480 . HET 0 rs139633377 . . . . . . . . . . . . V.69 . . I.46 0.518 . 0.010000 C9JSV9 . . . . . 0.203 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.202 0.202000 . . 0.010000 . . 1.0E-230 0.993 0.376 . 0.142 0.626 . 0.567 . 0.279 0.202 -0.269 . . . rs139633377 rs139633377 1 1538 10 1/0 0,247,255 +rs139633377 3 75786243 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786243 75786243 Chr3(GRCh37):g.75786243C>T 2531 2531 NM_001128223.2:c.2531G>A p.Cys844Tyr p.Cys844Tyr 5 2254 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs139633377 no no 0 C 0.000000 0 transition G A G>A 0.606 2.304 C Cys TGT 0.448 Y Tyr TAT 0.438 844 10 1 -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 353.86 0.00 Not scored 0.0 0.0 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2531A:p.C844Y . . . 0.29787233 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.546 . @ . . . . . 1 0.199 . . 94.0 . . . . . . . . . . 0.1272 -0.201 0.127 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.162 @ . . . 0.29 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.078 0.003 . . 37 . 0.922 . . 0.812 . . . 0.971 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.951 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.170 . 0.480 . HET 0 rs139633377 . . . . . . . . . . . . V.69 . . I.46 0.518 . 0.010000 C9JSV9 . . . . . 0.203 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.202 0.202000 . . 0.010000 . . 1.0E-230 0.993 0.376 . 0.142 0.626 . 0.567 . 0.279 0.202 -0.269 . . . rs139633377 rs139633377 1 1538 10 1/0 0,247,255 +rs149660902 3 75786245 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786245 75786245 Chr3(GRCh37):g.75786245T>A -1186 -1186 NR_036235.1:n.-1186T>A p.? p.? 1 rs149660902 no no 0 T 0.000000 0 transversion T A T>A 0.000 -0.682 248 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2529T:p.R843S . . . 0.3 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.222 . @ . . . . . 1 0.120 . . 90.0 . . . . . . . . . . -1.5686 -1.655 -1.569 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.144 . . exonic exonic exonic . . 0.078 @ . . . 0.28 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.021 0.001 . . 37 . 0.058 . . 0.381 . . . 0.090 0.290 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.026 . . 0.080 . . . . . . 1 0.081 . . . . . 0.000 . 0.529 . HET 0.64 rs149660902 . . . . . . . . . . . . 0.0983 . . I.46 -1.65 . 0.170000 C9JSV9 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -0.344 -0.344000 . . 0.170000 . . 1.0E-248 0.000 0.063 . 0.062 0.666 . 0.021 . 0.016 -0.344 0.615 . . . rs149660902 rs149660902 1 1538 10 1/0 0,248,255 +rs149660902 3 75786245 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786245 75786245 Chr3(GRCh37):g.75786245T>A 2529 2529 NM_001128223.2:c.2529A>T p.Arg843Ser p.Arg843Ser 5 2252 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Weakly Activated 75786230 2.46109 0.000125 69.7594 2.59982 0.000812 69.7594 Zinc finger, C2H2 Zinc finger, C2H2-like rs149660902 no no 0 T 0.000000 0 transversion A T A>T 0.000 -0.682 R Arg AGA 0.205 S Ser AGT 0.149 843 10 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Not scored 0.0 0.0 248 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2529T:p.R843S . . . 0.3 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.222 . @ . . . . . 1 0.120 . . 90.0 . . . . . . . . . . -1.5686 -1.655 -1.569 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.144 . . exonic exonic exonic . . 0.078 @ . . . 0.28 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.021 0.001 . . 37 . 0.058 . . 0.381 . . . 0.090 0.290 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.026 . . 0.080 . . . . . . 1 0.081 . . . . . 0.000 . 0.529 . HET 0.64 rs149660902 . . . . . . . . . . . . 0.0983 . . I.46 -1.65 . 0.170000 C9JSV9 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -0.344 -0.344000 . . 0.170000 . . 1.0E-248 0.000 0.063 . 0.062 0.666 . 0.021 . 0.016 -0.344 0.615 . . . rs149660902 rs149660902 1 1538 10 1/0 0,248,255 +rs113251431 3 75786256 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786256 75786256 Chr3(GRCh37):g.75786256T>A -1175 -1175 NR_036235.1:n.-1175T>A p.? p.? 1 rs113251431 no no 0 T 0.000000 0 transversion T A T>A 1.000 3.192 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2518T:p.K840X . . . 0.34444445 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.478 . . 90.0 . . . . . . . . . . 0.1882 -0.155 0.188 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.225 @ . . . 0.26 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.255 . . . HET 0 rs113251431 0.098 0.101 . . . . . . . . . . 7.316 . . I.59 I.59 . 1.000000 . . . . . . 0.275 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 1.020 1.020000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.114 0.880 . 0.499 . 0.283 1.020 0.615 0.098 . . rs113251431 rs113251431 1 1538 10 1/0 0,252,255 +rs113251431 3 75786256 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75786256 75786256 Chr3(GRCh37):g.75786256T>A 2518 2518 NM_001128223.2:c.2518A>T p.Lys840* p.Lys840* 5 2241 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786245 0.000544 59.3311 0.431852 0.005552 66.0025 Zinc finger, C2H2 rs113251431 no no 0 T 0.000000 0 transversion A T A>T 1.000 3.192 K Lys AAA 0.425 * * TAA 0.277 840 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2518T:p.K840X . . . 0.34444445 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.478 . . 90.0 . . . . . . . . . . 0.1882 -0.155 0.188 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.225 @ . . . 0.26 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.255 . . . HET 0 rs113251431 0.098 0.101 . . . . . . . . . . 7.316 . . I.59 I.59 . 1.000000 . . . . . . 0.275 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 1.020 1.020000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.114 0.880 . 0.499 . 0.283 1.020 0.615 0.098 . . rs113251431 rs113251431 1 1538 10 1/0 0,252,255 +rs78738705 3 75786261 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786261 75786261 Chr3(GRCh37):g.75786261C>T -1170 -1170 NR_036235.1:n.-1170C>T p.? p.? 1 rs78738705 no no 0 C 0.000000 0 transition C T C>T 1.000 2.385 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2513A:p.G838E . . . 0.59090906 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.622 . @ . . . . . 1 0.442 . . 88.0 . . . . . . . . . . -0.4287 -0.678 -0.429 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.170 @ . . . 0.26 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.109 0.004 . . 37 . 0.279 . . 0.155 . . . 0.309 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.858 . . 0 0 0 0 0 0 . 0.588 . . 0.585 . . . . . . 1 0.682 . . . . . 0.180 . 0.433 . HET 0.02 rs78738705 0.141 0.116 . . . . . . . . . . V.61 . . I.59 0.663 . 0.020000 C9JSV9 . . . . . 0.102 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.256 0.256000 . . 0.020000 . . 1.0E-255 0.051 0.212 . 0.108 0.830 . 0.364 . 0.275 0.256 0.542 0.14 . . rs78738705 rs145586593 1 1538 10 1/0 0,255,255 +rs78738705 3 75786261 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786261 75786261 Chr3(GRCh37):g.75786261C>T 2513 2513 NM_001128223.2:c.2513G>A p.Gly838Glu p.Gly838Glu 5 2236 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs78738705 no no 0 C 0.000000 0 transition G A G>A 1.000 2.385 G Gly GGG 0.250 E Glu GAG 0.583 838 10 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2513A:p.G838E . . . 0.59090906 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.622 . @ . . . . . 1 0.442 . . 88.0 . . . . . . . . . . -0.4287 -0.678 -0.429 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.170 @ . . . 0.26 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.109 0.004 . . 37 . 0.279 . . 0.155 . . . 0.309 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.858 . . 0 0 0 0 0 0 . 0.588 . . 0.585 . . . . . . 1 0.682 . . . . . 0.180 . 0.433 . HET 0.02 rs78738705 0.141 0.116 . . . . . . . . . . V.61 . . I.59 0.663 . 0.020000 C9JSV9 . . . . . 0.102 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.256 0.256000 . . 0.020000 . . 1.0E-255 0.051 0.212 . 0.108 0.830 . 0.364 . 0.275 0.256 0.542 0.14 . . rs78738705 rs145586593 1 1538 10 1/0 0,255,255 +rs79811623 3 75786278 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786278 75786278 Chr3(GRCh37):g.75786278A>C -1153 -1153 NR_036235.1:n.-1153A>C p.? p.? 1 rs79811623 no no 0 A 0.000000 0 transversion A C A>C 0.984 0.528 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2496G:p.H832Q . . . 0.8969072 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.108 . . 97.0 . . . . . . . . . . -0.3069 -0.631 -0.307 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.153 @ . . . 0.26 0.14 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.061 0.003 . . 37 . 0.914 . . 0.836 . . . 0.974 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.891 . . 0 0 0 0 0 0 . 0.410 . . 0.513 . . . . . . 1 0.721 . . . . . 0.126 . 0.549 . HOM 0 rs79811623 0.196 0.167 . . . . . . . . . . IV.73 . . I.59 0.372 . 0.000000 C9JSV9 . . . . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.124 0.124000 . . 0.000000 . . 1.0E-255 0.037 0.206 . 0.043 0.516 . 0.141 . 0.285 0.124 -0.542 0.2 . . rs79811623 rs148458108 1 1538 10 1/0 0,255,254 +rs79811623 3 75786278 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786278 75786278 Chr3(GRCh37):g.75786278A>C 2496 2496 NM_001128223.2:c.2496T>G p.His832Gln p.His832Gln 5 2219 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 New Acceptor Site 75786277 2.56008 0.074951 80.9466 Zinc finger, C2H2 Zinc finger, C2H2-like rs79811623 no no 0 A 0.000000 0 transversion T G T>G 0.984 0.528 H His CAT 0.413 Q Gln CAG 0.744 832 10 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2496G:p.H832Q . . . 0.8969072 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.108 . . 97.0 . . . . . . . . . . -0.3069 -0.631 -0.307 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.153 @ . . . 0.26 0.14 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.061 0.003 . . 37 . 0.914 . . 0.836 . . . 0.974 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.891 . . 0 0 0 0 0 0 . 0.410 . . 0.513 . . . . . . 1 0.721 . . . . . 0.126 . 0.549 . HOM 0 rs79811623 0.196 0.167 . . . . . . . . . . IV.73 . . I.59 0.372 . 0.000000 C9JSV9 . . . . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.124 0.124000 . . 0.000000 . . 1.0E-255 0.037 0.206 . 0.043 0.516 . 0.141 . 0.285 0.124 -0.542 0.2 . . rs79811623 rs148458108 1 1538 10 1/0 0,255,254 +rs76707683 3 75786288 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786288 75786288 Chr3(GRCh37):g.75786288A>G -1143 -1143 NR_036235.1:n.-1143A>G p.? p.? 1 rs76707683 no no 0 A 0.000000 0 transition A G A>G 0.008 1.820 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2486C:p.L829P . . . 0.52272725 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.479 . @ . . . . . 1 0.694 . . 88.0 . . . . . . . . . . 0.1392 -0.184 0.139 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.278 . . exonic exonic exonic . . 0.157 @ . . . 0.26 0.16 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.578 . . 0.444 . . . 0.932 0.246 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.830 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.784 . . . . . 0.148 . 0.584 . HET 0 rs76707683 0.087 0.065 . . . . . . . . . . V.81 . . I.77 0.446 . 0.000000 C9JSV9 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.134 0.134000 . . 0.000000 . . 1.0E-255 0.994 0.380 . 0.090 0.777 . 0.737 . 0.285 0.134 0.649 0.087 . . rs76707683 rs147227180 1 1538 10 1/0 0,255,255 +rs76707683 3 75786288 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786288 75786288 Chr3(GRCh37):g.75786288A>G 2486 2486 NM_001128223.2:c.2486T>C p.Leu829Pro p.Leu829Pro 5 2209 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76707683 no no 0 A 0.000000 0 transition T C T>C 0.008 1.820 L Leu CTC 0.197 P Pro CCC 0.328 829 10 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2486C:p.L829P . . . 0.52272725 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.479 . @ . . . . . 1 0.694 . . 88.0 . . . . . . . . . . 0.1392 -0.184 0.139 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.278 . . exonic exonic exonic . . 0.157 @ . . . 0.26 0.16 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.578 . . 0.444 . . . 0.932 0.246 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.830 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.784 . . . . . 0.148 . 0.584 . HET 0 rs76707683 0.087 0.065 . . . . . . . . . . V.81 . . I.77 0.446 . 0.000000 C9JSV9 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.134 0.134000 . . 0.000000 . . 1.0E-255 0.994 0.380 . 0.090 0.777 . 0.737 . 0.285 0.134 0.649 0.087 . . rs76707683 rs147227180 1 1538 10 1/0 0,255,255 +rs76137150 3 75786298 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786298 75786298 Chr3(GRCh37):g.75786298T>C -1133 -1133 NR_036235.1:n.-1133T>C p.? p.? 1 rs76137150 no no 0 T 0.000000 0 transition T C T>C 0.000 0.367 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2476G:p.K826E . . . 0.51578945 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.278 . . 95.0 . . . . . . . . . . -0.6734 -0.891 -0.673 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.165 @ . . . 0.27 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.140 . . 0.189 . . . 0.399 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.461 . . 0.428 . . . . . . 1 0.193 . . . . . 0.131 . 0.459 . HET 0.85 rs76137150 0.076 0.058 . . . . . . . . . . IV.69 . . I.77 0.572 . 0.300000 C9JSV9 . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.176 0.176000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.095 0.955 . 0.130 . 0.291 0.176 0.615 0.076 . . rs76137150 rs140045886 1 1538 10 1/0 0,255,255 +rs76137150 3 75786298 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786298 75786298 Chr3(GRCh37):g.75786298T>C 2476 2476 NM_001128223.2:c.2476A>G p.Lys826Glu p.Lys826Glu 5 2199 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786298 0.0202831 0.004665 76.7125 0.973933 0.018196 80.6234 Zinc finger, C2H2 Zinc finger, C2H2-like rs76137150 no no 0 T 0.000000 0 transition A G A>G 0.000 0.367 K Lys AAG 0.575 E Glu GAG 0.583 826 10 1 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2476G:p.K826E . . . 0.51578945 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.278 . . 95.0 . . . . . . . . . . -0.6734 -0.891 -0.673 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.165 @ . . . 0.27 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.140 . . 0.189 . . . 0.399 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.461 . . 0.428 . . . . . . 1 0.193 . . . . . 0.131 . 0.459 . HET 0.85 rs76137150 0.076 0.058 . . . . . . . . . . IV.69 . . I.77 0.572 . 0.300000 C9JSV9 . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.176 0.176000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.095 0.955 . 0.130 . 0.291 0.176 0.615 0.076 . . rs76137150 rs140045886 1 1538 10 1/0 0,255,255 +rs80001478 3 75786302 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786302 75786302 Chr3(GRCh37):g.75786302G>A -1129 -1129 NR_036235.1:n.-1129G>A p.? p.? 1 rs80001478 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2472T:p.S824S . . . 0.37777779 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . -0.1325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs80001478 0.109 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.11 . . rs80001478 rs138494720 1 1538 10 1/0 0,255,255 +rs80001478 3 75786302 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786302 75786302 Chr3(GRCh37):g.75786302G>A 2472 2472 NM_001128223.2:c.2472C>T p.Ser824= p.Ser824Ser 5 2195 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs80001478 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.117 S Ser TCC 0.220 S Ser TCT 0.185 824 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2472T:p.S824S . . . 0.37777779 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . -0.1325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs80001478 0.109 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.11 . . rs80001478 rs138494720 1 1538 10 1/0 0,255,255 +. 3 75786314 CCTACATTCT C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75786315 75786323 Chr3(GRCh37):g.75786315_75786323del -1116 -1108 NR_036235.1:n.-1116_-1108del p.? p.? 1 CTACATTCT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2451_2459del:p.817_820del . . . 0.77380955 . . . 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs146447046 0.141 0.138 . . . . ID\x3dCOSM1425319\x3bOCCURENCE\x3d43(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs146447046 rs146447046 1 1538 10 1.I 0,8,11 +. 3 75786314 CCTACATTCT C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion in-frame exon GRCh37 75786315 75786323 Chr3(GRCh37):g.75786315_75786323del 2451 2459 NM_001128223.2:c.2451_2459del p.Glu818_Arg820del p.Glu818_Arg820del 5 2174 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Donor Strongly Activated 75786328 0.576406 0.013873 69.908 5.55419 0.51178 81.7494 Zinc finger, C2H2 Zinc finger, C2H2-like AGAATGTAG 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2451_2459del:p.817_820del . . . 0.77380955 . . . 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs146447046 0.141 0.138 . . . . ID\x3dCOSM1425319\x3bOCCURENCE\x3d43(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs146447046 rs146447046 1 1538 10 1.I 0,8,11 +rs78596620 3 75786337 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786337 75786337 Chr3(GRCh37):g.75786337G>A -1094 -1094 NR_036235.1:n.-1094G>A p.? p.? 1 rs78596620 no no 0 G 0.000000 0 transition G A G>A 0.567 3.918 140 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2437T:p.P813S . . . 0.31632653 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.243 . . 98.0 . . . . . . . . . . 0.0927 -0.143 0.093 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.239 @ . . . 0.31 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.096 0.004 . . 37 . 0.480 . . 0.201 . . . 0.453 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.872 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 1 0.342 . . . . . 0.393 . 0.533 . HET 0 rs78596620 . . . . . . . . . . . . IX.77 . . I.79 I.79 . 0.050000 C9JSV9 . . . . . 0.262 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 1.367 1.367000 . . 0.050000 . . 1.0E-140 1.000 0.715 . 0.083 0.586 . 0.562 . 0.291 1.367 0.562 . . . rs147075123 rs147075123 1 1538 10 1/0 0,255,255 +rs78596620 3 75786337 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786337 75786337 Chr3(GRCh37):g.75786337G>A 2437 2437 NM_001128223.2:c.2437C>T p.Pro813Ser p.Pro813Ser 5 2160 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs78596620 no no 0 G 0.000000 0 transition C T C>T 0.567 3.918 P Pro CCA 0.274 S Ser TCA 0.148 813 10 6 Opossum -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 166.35 0.00 Tolerated 0.31 III.85 140 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2437T:p.P813S . . . 0.31632653 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.243 . . 98.0 . . . . . . . . . . 0.0927 -0.143 0.093 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.239 @ . . . 0.31 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.096 0.004 . . 37 . 0.480 . . 0.201 . . . 0.453 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.872 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 1 0.342 . . . . . 0.393 . 0.533 . HET 0 rs78596620 . . . . . . . . . . . . IX.77 . . I.79 I.79 . 0.050000 C9JSV9 . . . . . 0.262 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 1.367 1.367000 . . 0.050000 . . 1.0E-140 1.000 0.715 . 0.083 0.586 . 0.562 . 0.291 1.367 0.562 . . . rs147075123 rs147075123 1 1538 10 1/0 0,255,255 +rs77045598 3 75786354 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786354 75786354 Chr3(GRCh37):g.75786354G>A -1077 -1077 NR_036235.1:n.-1077G>A p.? p.? 1 rs77045598 no no 0 G 0.000000 0 transition G A G>A 0.984 -0.198 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2420T:p.T807I . . . 0.43396226 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.138 . . 106.0 . . . . . . . . . . -1.1338 -1.121 -1.134 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.107 @ . . . 0.28 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.032 0.002 . . 37 . 0.090 . . 0.394 . . . 0.091 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.135 . . 0.198 . . . . . . 1 0.010 . . . . . 0.144 . 0.387 . HET 0.82 rs77045598 0.141 0.123 . . . . . . . . . . 5.1762 . . I.37 -0.695 . 1.000000 C9JSV9 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.195 -0.195000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.486 . 0.079 . 0.034 -0.195 -0.219 0.14 . . rs77045598 rs139554848 1 1538 10 1/0 0,251,255 +rs77045598 3 75786354 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786354 75786354 Chr3(GRCh37):g.75786354G>A 2420 2420 NM_001128223.2:c.2420C>T p.Thr807Ile p.Thr807Ile 5 2143 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77045598 no no 0 G 0.000000 0 transition C T C>T 0.984 -0.198 T Thr ACT 0.243 I Ile ATT 0.356 807 10 5 Cat -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 148.91 0.00 Tolerated 0.37 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2420T:p.T807I . . . 0.43396226 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.138 . . 106.0 . . . . . . . . . . -1.1338 -1.121 -1.134 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.107 @ . . . 0.28 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.032 0.002 . . 37 . 0.090 . . 0.394 . . . 0.091 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.135 . . 0.198 . . . . . . 1 0.010 . . . . . 0.144 . 0.387 . HET 0.82 rs77045598 0.141 0.123 . . . . . . . . . . 5.1762 . . I.37 -0.695 . 1.000000 C9JSV9 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.195 -0.195000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.486 . 0.079 . 0.034 -0.195 -0.219 0.14 . . rs77045598 rs139554848 1 1538 10 1/0 0,251,255 +rs370627469 3 75786430 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786430 75786430 Chr3(GRCh37):g.75786430C>T -1001 -1001 NR_036235.1:n.-1001C>T p.? p.? 1 rs370627469 no no 0 C 0.000000 0 transition C T C>T 0.945 0.932 184 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2344A:p.G782R . . . 0.12230216 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.570 . @ . . . . . 1 0.523 . . 139.0 . . . . . . . . . . -0.4493 -0.765 -0.449 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.123 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.145 0.006 . . 37 . 0.418 . . 0.202 . . . 0.251 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.832 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 1 0.477 . . . . . 0.183 . 0.549 . LowAF 0.01 rs370627469 0.011 0.022 . . . . . . . . . . V.47 . . I.74 -0.254 . 0.020000 C9JSV9 . . . . . 0.050 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.052 -0.052000 . . 0.020000 . . 9.999999999999999E-185 0.024 0.198 . 0.016 0.335 . 0.494 . 0.065 -0.052 0.542 0.011 . . rs370627469 rs370627469 1 1538 10 1/0 0,214,255 +rs370627469 3 75786430 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786430 75786430 Chr3(GRCh37):g.75786430C>T 2344 2344 NM_001128223.2:c.2344G>A p.Gly782Arg p.Gly782Arg 5 2067 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs370627469 no no 0 C 0.000000 0 transition G A G>A 0.945 0.932 G Gly GGA 0.246 R Arg AGA 0.205 782 10 7 Opossum -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 147.42 0.00 Tolerated 0.07 III.85 184 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2344A:p.G782R . . . 0.12230216 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.570 . @ . . . . . 1 0.523 . . 139.0 . . . . . . . . . . -0.4493 -0.765 -0.449 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.123 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.145 0.006 . . 37 . 0.418 . . 0.202 . . . 0.251 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.832 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 1 0.477 . . . . . 0.183 . 0.549 . LowAF 0.01 rs370627469 0.011 0.022 . . . . . . . . . . V.47 . . I.74 -0.254 . 0.020000 C9JSV9 . . . . . 0.050 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.052 -0.052000 . . 0.020000 . . 9.999999999999999E-185 0.024 0.198 . 0.016 0.335 . 0.494 . 0.065 -0.052 0.542 0.011 . . rs370627469 rs370627469 1 1538 10 1/0 0,214,255 +rs79994093 3 75786438 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786438 75786438 Chr3(GRCh37):g.75786438G>A -993 -993 NR_036235.1:n.-993G>A p.? p.? 1 rs79994093 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102760 6564 17060 4748 6852 12578 42520 9750 2688 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 78 Exomes transition G A G>A 0.890 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2336T:p.T779I . . . 0.7099237 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.143 . @ . . . . . 1 0.044 . . 131.0 . . . . . . . . . . -1.1784 -1.278 -1.178 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.150 @ . . . 0.3 0.14 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.107 . . 0.343 . . . 0.080 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.290 . . 0.250 . . . . . . 1 0.010 . . . . . 0.154 . 0.344 . HET 0.66 rs148249548 . . . . . . . . . . . . V.05 . . I.74 0.309 . 1.000000 C9JSV9 . . . . . 0.021 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.409 . 0.092 0.092000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.069 . 0.028 . 0.093 0.092 -0.219 . . . rs79994093 rs148249548 1 1538 10 1/0 0,252,250 +rs79994093 3 75786438 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786438 75786438 Chr3(GRCh37):g.75786438G>A 2336 2336 NM_001128223.2:c.2336C>T p.Thr779Ile p.Thr779Ile 5 2059 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs79994093 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102760 6564 17060 4748 6852 12578 42520 9750 2688 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 78 Exomes transition C T C>T 0.890 -0.117 T Thr ACT 0.243 I Ile ATT 0.356 779 10 5 Cat -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 141.80 0.00 Tolerated 0.26 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2336T:p.T779I . . . 0.7099237 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.143 . @ . . . . . 1 0.044 . . 131.0 . . . . . . . . . . -1.1784 -1.278 -1.178 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.150 @ . . . 0.3 0.14 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.107 . . 0.343 . . . 0.080 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.290 . . 0.250 . . . . . . 1 0.010 . . . . . 0.154 . 0.344 . HET 0.66 rs148249548 . . . . . . . . . . . . V.05 . . I.74 0.309 . 1.000000 C9JSV9 . . . . . 0.021 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.409 . 0.092 0.092000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.069 . 0.028 . 0.093 0.092 -0.219 . . . rs79994093 rs148249548 1 1538 10 1/0 0,252,250 +rs77097895 3 75786450 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786450 75786450 Chr3(GRCh37):g.75786450G>A -981 -981 NR_036235.1:n.-981G>A p.? p.? 1 rs77097895 yes no Frequency 1 G 0.000000 0 0.000022 0.000313 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000313 2 2 0 0 0 0 0 0 0 90710 6398 15212 3640 6998 9972 37946 8156 2388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 95 Exomes transition G A G>A 0.000 -2.377 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2324T:p.T775M . . . 0.7414966 . . @ 109 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.073 . . 147.0 . . . . . . . . . . -2.0134 -2.144 -2.013 c . . . . . 7.458e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.044 @ . . . 0.33 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.096 . . 0.226 . . . 0.128 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.112 . . 0.104 . . . . . . 1 0.265 . . . . . 0.158 . 0.419 . HET 0.1 rs77097895 0.489 0.478 . . . . . . . . . . V.48 . . I.74 -3.48 . 0.140000 C9JSV9 . . . . . 0.005 . . . 0.0003 2.205e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.409 . -2.537 -2.537000 . . 0.140000 . . 1.0E-255 0.000 0.063 . 0.016 0.006 . 0.000 . 0.005 -2.537 -0.617 0.49 . . rs77097895 rs142392552 1 1538 10 1/0 0,245,241 +rs77097895 3 75786450 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786450 75786450 Chr3(GRCh37):g.75786450G>A 2324 2324 NM_001128223.2:c.2324C>T p.Thr775Met p.Thr775Met 5 2047 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77097895 yes no Frequency 1 G 0.000000 0 0.000022 0.000313 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000313 2 2 0 0 0 0 0 0 0 90710 6398 15212 3640 6998 9972 37946 8156 2388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 95 Exomes transition C T C>T 0.000 -2.377 T Thr ACG 0.116 M Met ATG 1.000 775 10 2 Western lowland gorilla -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 233.00 0.00 Tolerated 0.14 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2324T:p.T775M . . . 0.7414966 . . @ 109 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.073 . . 147.0 . . . . . . . . . . -2.0134 -2.144 -2.013 c . . . . . 7.458e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.044 @ . . . 0.33 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.096 . . 0.226 . . . 0.128 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.112 . . 0.104 . . . . . . 1 0.265 . . . . . 0.158 . 0.419 . HET 0.1 rs77097895 0.489 0.478 . . . . . . . . . . V.48 . . I.74 -3.48 . 0.140000 C9JSV9 . . . . . 0.005 . . . 0.0003 2.205e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.409 . -2.537 -2.537000 . . 0.140000 . . 1.0E-255 0.000 0.063 . 0.016 0.006 . 0.000 . 0.005 -2.537 -0.617 0.49 . . rs77097895 rs142392552 1 1538 10 1/0 0,245,241 +rs113197025 3 75786469 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786469 75786469 Chr3(GRCh37):g.75786469G>A -962 -962 NR_036235.1:n.-962G>A p.? p.? 1 rs113197025 no no 0 G 0.000000 0 transition G A G>A 0.000 0.044 231 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2305T:p.H769Y . . . 0.24666667 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.104 . . 150.0 . . . . . . . . . . -1.2875 -1.408 -1.287 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.149 . . exonic exonic exonic . . 0.118 @ . . . 0.31 0.15 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.048 . . 0.251 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.084 . . 0 0 0 0 0 0 . 0.366 . . 0.184 . . . . . . 1 0.010 . . . . . 0.008 . 0.384 . HET 0.43 rs113197025 0.022 0.022 . . . . . . . . . . 0.6427 . . I.74 -0.386 . 1.000000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.081 -0.081000 . . 1.000000 . . 1.0E-231 0.000 0.063 . 0.016 0.122 . 0.001 . 0.092 -0.081 0.562 0.022 . . rs113197025 rs113197025 1 1538 10 1/0 0,222,255 +rs113197025 3 75786469 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786469 75786469 Chr3(GRCh37):g.75786469G>A 2305 2305 NM_001128223.2:c.2305C>T p.His769Tyr p.His769Tyr 5 2028 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs113197025 no no 0 G 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 769 10 1 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 265.22 XII.16 Tolerated 0.49 III.93 231 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2305T:p.H769Y . . . 0.24666667 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.104 . . 150.0 . . . . . . . . . . -1.2875 -1.408 -1.287 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.149 . . exonic exonic exonic . . 0.118 @ . . . 0.31 0.15 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.048 . . 0.251 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.084 . . 0 0 0 0 0 0 . 0.366 . . 0.184 . . . . . . 1 0.010 . . . . . 0.008 . 0.384 . HET 0.43 rs113197025 0.022 0.022 . . . . . . . . . . 0.6427 . . I.74 -0.386 . 1.000000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.081 -0.081000 . . 1.000000 . . 1.0E-231 0.000 0.063 . 0.016 0.122 . 0.001 . 0.092 -0.081 0.562 0.022 . . rs113197025 rs113197025 1 1538 10 1/0 0,222,255 +rs111381670 3 75786476 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786476 75786476 Chr3(GRCh37):g.75786476G>A -955 -955 NR_036235.1:n.-955G>A p.? p.? 1 rs111381670 no no 0 G 0.000000 0 transition G A G>A 0.008 -1.005 226 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2298T:p.T766T . . . 0.23129252 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . . . . . . . -0.2526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs111381670 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.022 . . rs111381670 rs111381670 1 1538 10 1/0 0,222,255 +rs111381670 3 75786476 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786476 75786476 Chr3(GRCh37):g.75786476G>A 2298 2298 NM_001128223.2:c.2298C>T p.Thr766= p.Thr766Thr 5 2021 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs111381670 no no 0 G 0.000000 0 transition C T C>T 0.008 -1.005 T Thr ACC 0.361 T Thr ACT 0.243 766 226 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2298T:p.T766T . . . 0.23129252 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . . . . . . . -0.2526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs111381670 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.022 . . rs111381670 rs111381670 1 1538 10 1/0 0,222,255 +rs112630759 3 75786483 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786483 75786483 Chr3(GRCh37):g.75786483C>A -948 -948 NR_036235.1:n.-948C>A p.? p.? 1 rs112630759 no no 0 C 0.000000 0 transversion C A C>A 0.992 1.497 188 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2291T:p.G764V . . . 0.13043478 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.595 . @ . . . . . 1 0.383 . . 138.0 . . . . . . . . . . -0.0510 -0.341 -0.051 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.221 . . exonic exonic exonic . . 0.179 @ . . . 0.3 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.052 0.003 . . 37 . 0.399 . . 0.340 . . . 0.844 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.928 . . 0 0 0 0 0 0 . 0.670 . . 0.631 . . . . . . 1 0.682 . . . . . 0.209 . 0.416 . LowAF 0.02 rs112630759 . . . . . . . . . . . . VI.01 . . I.74 0.819 . 0.000000 C9JSV9 . . . . . 0.209 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 0.320 0.320000 . . 0.000000 . . 1.0E-188 0.694 0.283 . 0.043 0.791 . 0.311 . 0.082 0.320 0.542 . rs2209203 rs2209203 rs112630759 rs112630759 1 1538 10 1/0 0,215,255 +rs112630759 3 75786483 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786483 75786483 Chr3(GRCh37):g.75786483C>A 2291 2291 NM_001128223.2:c.2291G>T p.Gly764Val p.Gly764Val 5 2014 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786463 0.000193 74.3877 0.45971 0.000229 74.3877 Zinc finger, C2H2 Zinc finger, C2H2-like rs112630759 no no 0 C 0.000000 0 transversion G T G>T 0.992 1.497 G Gly GGG 0.250 V Val GTG 0.468 764 10 7 Opossum -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 229.12 50.17 Deleterious 0.01 III.93 188 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2291T:p.G764V . . . 0.13043478 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.595 . @ . . . . . 1 0.383 . . 138.0 . . . . . . . . . . -0.0510 -0.341 -0.051 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.221 . . exonic exonic exonic . . 0.179 @ . . . 0.3 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.052 0.003 . . 37 . 0.399 . . 0.340 . . . 0.844 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.928 . . 0 0 0 0 0 0 . 0.670 . . 0.631 . . . . . . 1 0.682 . . . . . 0.209 . 0.416 . LowAF 0.02 rs112630759 . . . . . . . . . . . . VI.01 . . I.74 0.819 . 0.000000 C9JSV9 . . . . . 0.209 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 0.320 0.320000 . . 0.000000 . . 1.0E-188 0.694 0.283 . 0.043 0.791 . 0.311 . 0.082 0.320 0.542 . rs2209203 rs2209203 rs112630759 rs112630759 1 1538 10 1/0 0,215,255 +rs113382015 3 75786490 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786490 75786490 Chr3(GRCh37):g.75786490C>G -941 -941 NR_036235.1:n.-941C>G p.? p.? 1 rs113382015 no no 0 C 0.000000 0 transversion C G C>G 0.063 1.174 237 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2284C:p.E762Q . . . 0.26206896 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.035 . . 145.0 . . . . . . . . . . -0.5700 -0.744 -0.570 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.235 @ . . . 0.3 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.123 . . 0.257 . . . 0.050 0.200 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.561 . . 0.508 . . . . . . 1 0.179 . . . . . 0.387 . 0.539 . HET 0.02 rs113382015 0.065 0.072 . . . . . . . . . . IX.62 . . I.74 I.74 . 0.280000 C9JSV9 . . . . . 0.044 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 1.331 1.331000 . . 0.280000 . . 1.0E-237 0.000 0.063 . 0.062 0.965 . 0.255 . 0.276 1.331 0.542 0.065 . . rs113382015 rs113382015 1 1538 10 1/0 0,226,255 +rs113382015 3 75786490 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786490 75786490 Chr3(GRCh37):g.75786490C>G 2284 2284 NM_001128223.2:c.2284G>C p.Glu762Gln p.Glu762Gln 5 2007 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786487 51.3415 1.82418 1.2e-05 62.1635 Zinc finger, C2H2 Zinc finger, C2H2-like rs113382015 no no 0 C 0.000000 0 transversion G C G>C 0.063 1.174 E Glu GAG 0.583 Q Gln CAG 0.744 762 10 6 Cat 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 263.50 0.00 Tolerated 0.27 III.93 237 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2284C:p.E762Q . . . 0.26206896 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.035 . . 145.0 . . . . . . . . . . -0.5700 -0.744 -0.570 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.235 @ . . . 0.3 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.123 . . 0.257 . . . 0.050 0.200 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.561 . . 0.508 . . . . . . 1 0.179 . . . . . 0.387 . 0.539 . HET 0.02 rs113382015 0.065 0.072 . . . . . . . . . . IX.62 . . I.74 I.74 . 0.280000 C9JSV9 . . . . . 0.044 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 1.331 1.331000 . . 0.280000 . . 1.0E-237 0.000 0.063 . 0.062 0.965 . 0.255 . 0.276 1.331 0.542 0.065 . . rs113382015 rs113382015 1 1538 10 1/0 0,226,255 +rs372539402 3 75786501 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786501 75786501 Chr3(GRCh37):g.75786501T>A -930 -930 NR_036235.1:n.-930T>A p.? p.? 1 rs372539402 yes no Frequency/1000G 2 T 0.000000 0 transversion T A T>A 0.000 0.205 243 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2273T:p.Y758F . . . 0.28169015 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.320 . @ . . . . . 1 0.098 . . 142.0 . . . . . . . . . . -1.0417 -1.101 -1.042 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.235 0.0002 . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.419 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.097 . . 0.320 . . . 0.088 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.561 . . 0 0 0 0 0 0 . 0.102 . . 0.112 . . . . . . 1 0.276 . . . . . 0.091 . 0.480 . HET 0.4 rs372539402 . . . . . . . . . . . . 4.0172 . . I.74 I.74 . 0.320000 C9JSV9 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 1.092 1.092000 . . 0.320000 . . 1.0E-243 0.000 0.063 . 0.043 0.995 . 0.013 . 0.094 1.092 0.615 . . . rs372539402 rs372539402 1 1538 10 1/0 0,228,255 +rs372539402 3 75786501 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786501 75786501 Chr3(GRCh37):g.75786501T>A 2273 2273 NM_001128223.2:c.2273A>T p.Tyr758Phe p.Tyr758Phe 5 1996 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs372539402 yes no Frequency/1000G 2 T 0.000000 0 transversion A T A>T 0.000 0.205 Y Tyr TAT 0.438 F Phe TTT 0.454 758 10 9 Opossum 3 3 4 0.2 0 6.II 5.II 136 132 22 C0 83.33 21.23 Deleterious 0.02 III.85 243 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2273T:p.Y758F . . . 0.28169015 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.320 . @ . . . . . 1 0.098 . . 142.0 . . . . . . . . . . -1.0417 -1.101 -1.042 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.235 0.0002 . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.419 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.097 . . 0.320 . . . 0.088 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.561 . . 0 0 0 0 0 0 . 0.102 . . 0.112 . . . . . . 1 0.276 . . . . . 0.091 . 0.480 . HET 0.4 rs372539402 . . . . . . . . . . . . 4.0172 . . I.74 I.74 . 0.320000 C9JSV9 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 1.092 1.092000 . . 0.320000 . . 1.0E-243 0.000 0.063 . 0.043 0.995 . 0.013 . 0.094 1.092 0.615 . . . rs372539402 rs372539402 1 1538 10 1/0 0,228,255 +rs79902440 3 75786506 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786506 75786506 Chr3(GRCh37):g.75786506T>C -925 -925 NR_036235.1:n.-925T>C p.? p.? 1 rs79902440 yes no Frequency/1000G 2 T 0.000000 0 transition T C T>C 0.992 1.013 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2268G:p.K756K . . . 0.53571427 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.0128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.27 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79902440 0.304 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 . . rs79902440 rs150752942 1 1538 10 1/0 0,248,255 +rs79902440 3 75786506 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786506 75786506 Chr3(GRCh37):g.75786506T>C 2268 2268 NM_001128223.2:c.2268A>G p.Lys756= p.Lys756Lys 5 1991 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79902440 yes no Frequency/1000G 2 T 0.000000 0 transition A G A>G 0.992 1.013 K Lys AAA 0.425 K Lys AAG 0.575 756 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2268G:p.K756K . . . 0.53571427 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.0128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.27 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79902440 0.304 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 . . rs79902440 rs150752942 1 1538 10 1/0 0,248,255 +rs113078821 3 75786518 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786518 75786518 Chr3(GRCh37):g.75786518A>C -913 -913 NR_036235.1:n.-913A>C p.? p.? 1 rs113078821 no no 0 A 0.000000 0 transversion A C A>C 1.000 2.304 245 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2256G:p.H752Q . . . 0.2890625 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.179 . . 128.0 . . . . . . . . . . -0.2395 -0.512 -0.239 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.668 . . exonic exonic exonic . . 0.169 @ . . . 0.29 0.15 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.083 0.004 . . 37 . 0.769 . . 0.634 . . . 0.873 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.875 . . 0 0 0 0 0 0 . 0.689 . . 0.774 . . . . . . 1 0.912 . . . . . 0.179 . 0.566 . HET 0 rs113078821 0.087 0.094 . . . . . . . . . . V.48 . . I.61 0.647 . 0.000000 C9JSV9 . . . . . 0.191 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 0.229 0.229000 . . 0.000000 . . 1.0E-245 1.000 0.715 . 0.043 0.851 . 0.250 . 0.079 0.229 0.649 0.087 . . rs113078821 rs113078821 1 1538 10 1/0 0,233,255 +rs113078821 3 75786518 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786518 75786518 Chr3(GRCh37):g.75786518A>C 2256 2256 NM_001128223.2:c.2256T>G p.His752Gln p.His752Gln 5 1979 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs113078821 no no 0 A 0.000000 0 transversion T G T>G 1.000 2.304 H His CAT 0.413 Q Gln CAG 0.744 752 10 9 Opossum 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 94.34 24.VIII Deleterious 0.03 III.85 245 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2256G:p.H752Q . . . 0.2890625 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.179 . . 128.0 . . . . . . . . . . -0.2395 -0.512 -0.239 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.668 . . exonic exonic exonic . . 0.169 @ . . . 0.29 0.15 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.083 0.004 . . 37 . 0.769 . . 0.634 . . . 0.873 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.875 . . 0 0 0 0 0 0 . 0.689 . . 0.774 . . . . . . 1 0.912 . . . . . 0.179 . 0.566 . HET 0 rs113078821 0.087 0.094 . . . . . . . . . . V.48 . . I.61 0.647 . 0.000000 C9JSV9 . . . . . 0.191 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 0.229 0.229000 . . 0.000000 . . 1.0E-245 1.000 0.715 . 0.043 0.851 . 0.250 . 0.079 0.229 0.649 0.087 . . rs113078821 rs113078821 1 1538 10 1/0 0,233,255 +rs76396775 3 75786521 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786521 75786521 Chr3(GRCh37):g.75786521G>A -910 -910 NR_036235.1:n.-910G>A p.? p.? 1 rs76396775 no no 0 G 0.000000 0 transition G A G>A 0.677 -2.458 249 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2253T:p.T751T . . . 0.30327868 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.5765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76396775 0.087 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.087 . . rs76396775 rs138747541 1 1538 10 1/0 0,236,255 +rs76396775 3 75786521 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786521 75786521 Chr3(GRCh37):g.75786521G>A 2253 2253 NM_001128223.2:c.2253C>T p.Thr751= p.Thr751Thr 5 1976 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76396775 no no 0 G 0.000000 0 transition C T C>T 0.677 -2.458 T Thr ACC 0.361 T Thr ACT 0.243 751 249 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2253T:p.T751T . . . 0.30327868 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.5765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76396775 0.087 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.087 . . rs76396775 rs138747541 1 1538 10 1/0 0,236,255 +rs79051543 3 75786533 T G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786533 75786533 Chr3(GRCh37):g.75786533T>G -898 -898 NR_036235.1:n.-898T>G p.? p.? 1 rs79051543 no no 0 T 0.000000 0 transversion T G T>G 0.000 -2.054 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2241C:p.V747V . . . 0.48360655 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.3800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79051543 0.315 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 . . rs79051543 rs147974422 1 1538 10 1/0 0,253,255 +rs79051543 3 75786533 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786533 75786533 Chr3(GRCh37):g.75786533T>G 2241 2241 NM_001128223.2:c.2241A>C p.Val747= p.Val747Val 5 1964 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786524 4.35536 0.588181 69.2256 6.69112 0.812992 72.0435 rs79051543 no no 0 T 0.000000 0 transversion A C A>C 0.000 -2.054 V Val GTA 0.114 V Val GTC 0.240 747 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2241C:p.V747V . . . 0.48360655 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.3800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79051543 0.315 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 . . rs79051543 rs147974422 1 1538 10 1/0 0,253,255 +rs80089603 3 75786670 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786670 75786670 Chr3(GRCh37):g.75786670G>A -761 -761 NR_036235.1:n.-761G>A p.? p.? 1 rs80089603 no no 0 G 0.000000 0 transition G A G>A 0.898 2.223 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2104T:p.P702S . . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.242 . @ . . . . . 1 0.365 . . 88.0 . . . . . . . . . . -0.6567 -0.759 -0.657 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.149 @ . . . 0.32 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.038 0.002 . . 37 . 0.043 . . 0.389 . . . 0.447 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.371 . . 0.305 . . . . . . 1 0.531 . . . . . 0.207 . 0.461 . HET 0.12 rs112822201 0.348 0.326 . . . . . . . . . . VI.59 . . I.27 0.281 . 0.060000 C9JSV9 . . . . . 0.285 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.088 0.088000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.062 0.113 . 0.648 . 0.283 0.088 0.562 0.35 . . rs80089603 rs112822201 1 1538 10 1/0 0,254,255 +rs80089603 3 75786670 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786670 75786670 Chr3(GRCh37):g.75786670G>A 2104 2104 NM_001128223.2:c.2104C>T p.Pro702Ser p.Pro702Ser 5 1827 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs80089603 no no 0 G 0.000000 0 transition C T C>T 0.898 2.223 P Pro CCT 0.283 S Ser TCT 0.185 702 10 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2104T:p.P702S . . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.242 . @ . . . . . 1 0.365 . . 88.0 . . . . . . . . . . -0.6567 -0.759 -0.657 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.149 @ . . . 0.32 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.038 0.002 . . 37 . 0.043 . . 0.389 . . . 0.447 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.371 . . 0.305 . . . . . . 1 0.531 . . . . . 0.207 . 0.461 . HET 0.12 rs112822201 0.348 0.326 . . . . . . . . . . VI.59 . . I.27 0.281 . 0.060000 C9JSV9 . . . . . 0.285 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.088 0.088000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.062 0.113 . 0.648 . 0.283 0.088 0.562 0.35 . . rs80089603 rs112822201 1 1538 10 1/0 0,254,255 +rs80214016 3 75786687 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786687 75786687 Chr3(GRCh37):g.75786687A>T -744 -744 NR_036235.1:n.-744A>T p.? p.? 1 rs80214016 no no 0 A 0.000000 0 transversion A T A>T 0.031 -0.924 176 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2087A:p.L696H . . . 0.10638298 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.068 . . 94.0 . . . . . . . . . . -1.4542 -1.540 -1.454 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.076 . . exonic exonic exonic . . 0.079 @ . . . 0.27 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.037 0.002 . . 37 . 0.042 . . 0.400 . . . 0.044 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 1 0.654 . . . . . 0.037 . 0.455 . LowAF 0 rs80214016 . 0.007 . . . . . . . . . . II.85 . . I.63 -1.62 . 0.010000 C9JSV9 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -0.465 -0.465000 . . 0.010000 . . 1.0E-176 0.000 0.063 . 0.114 0.262 . 0.046 . 0.290 -0.465 0.649 . rs6668837 rs6668837 rs80214016 rs80214016 1 1538 10 1/0 0,229,255 +rs80214016 3 75786687 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786687 75786687 Chr3(GRCh37):g.75786687A>T 2087 2087 NM_001128223.2:c.2087T>A p.Leu696His p.Leu696His 5 1810 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs80214016 no no 0 A 0.000000 0 transversion T A T>A 0.031 -0.924 L Leu CTC 0.197 H His CAC 0.587 696 10 1 -2 -3 -5 0 0.58 4.IX 10.IV 111 96 99 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2087A:p.L696H . . . 0.10638298 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.068 . . 94.0 . . . . . . . . . . -1.4542 -1.540 -1.454 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.076 . . exonic exonic exonic . . 0.079 @ . . . 0.27 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.037 0.002 . . 37 . 0.042 . . 0.400 . . . 0.044 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 1 0.654 . . . . . 0.037 . 0.455 . LowAF 0 rs80214016 . 0.007 . . . . . . . . . . II.85 . . I.63 -1.62 . 0.010000 C9JSV9 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -0.465 -0.465000 . . 0.010000 . . 1.0E-176 0.000 0.063 . 0.114 0.262 . 0.046 . 0.290 -0.465 0.649 . rs6668837 rs6668837 rs80214016 rs80214016 1 1538 10 1/0 0,229,255 +rs74699492 3 75786740 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786740 75786740 Chr3(GRCh37):g.75786740C>G -691 -691 NR_036235.1:n.-691C>G p.? p.? 1 rs74699492 no no 0 C 0.000000 0 transversion C G C>G 0.000 1.255 245 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2034C:p.M678I . . . 0.29069766 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.254 . @ . . . . . 1 0.073 . . 86.0 . . . . . . . . . . -1.0570 -1.103 -1.057 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.224 @ . . . 0.31 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.038 . . 0.397 . . . 0.081 0.196 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.234 . . 0 0 0 0 0 0 . 0.090 . . 0.080 . . . . . . 1 0.200 . . . . . 0.365 . 0.392 . HET 0.18 rs74699492 . . . . . . . . . . . . IX.78 . . I.57 I.57 . 0.170000 C9JSV9 . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 1.226 1.226000 . . 0.170000 . . 1.0E-245 0.000 0.063 . 0.140 0.996 . 0.054 . 0.280 1.226 0.542 . . . rs74699492 rs74699492 1 1538 10 1/0 0,249,255 +rs74699492 3 75786740 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786740 75786740 Chr3(GRCh37):g.75786740C>G 2034 2034 NM_001128223.2:c.2034G>C p.Met678Ile p.Met678Ile 5 1757 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs74699492 no no 0 C 0.000000 0 transversion G C G>C 0.000 1.255 M Met ATG 1.000 I Ile ATC 0.481 678 10 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Not scored 0.0 0.0 245 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2034C:p.M678I . . . 0.29069766 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.254 . @ . . . . . 1 0.073 . . 86.0 . . . . . . . . . . -1.0570 -1.103 -1.057 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.224 @ . . . 0.31 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.038 . . 0.397 . . . 0.081 0.196 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.234 . . 0 0 0 0 0 0 . 0.090 . . 0.080 . . . . . . 1 0.200 . . . . . 0.365 . 0.392 . HET 0.18 rs74699492 . . . . . . . . . . . . IX.78 . . I.57 I.57 . 0.170000 C9JSV9 . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 1.226 1.226000 . . 0.170000 . . 1.0E-245 0.000 0.063 . 0.140 0.996 . 0.054 . 0.280 1.226 0.542 . . . rs74699492 rs74699492 1 1538 10 1/0 0,249,255 +rs79103664 3 75786741 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786741 75786741 Chr3(GRCh37):g.75786741A>G -690 -690 NR_036235.1:n.-690A>G p.? p.? 1 rs79103664 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.198 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2033C:p.M678T . . . 0.6818182 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.030 . . 88.0 . . . . . . . . . . -1.5270 -1.619 -1.527 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.076 . . exonic exonic exonic . . 0.063 @ . . . 0.27 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.035 . . 0.464 . . . 0.098 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.147 . . 0.121 . . . . . . 1 0.060 . . . . . 0.140 . 0.518 . HET 0.57 rs79103664 0.207 0.203 . . . . . . . . . . 5.1114 . . I.57 -2.35 . 0.500000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -0.437 -0.437000 . . 0.500000 . . 1.0E-255 0.000 0.063 . 0.104 0.997 . 0.002 . 0.006 -0.437 0.649 0.21 . . rs79103664 rs79103664 1 1538 10 1/0 0,255,255 +rs79103664 3 75786741 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786741 75786741 Chr3(GRCh37):g.75786741A>G 2033 2033 NM_001128223.2:c.2033T>C p.Met678Thr p.Met678Thr 5 1756 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Donor Strongly Activated 75786746 0.002507 66.9188 4.99355 0.004261 66.6156 rs79103664 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.198 M Met ATG 1.000 T Thr ACG 0.116 678 10 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2033C:p.M678T . . . 0.6818182 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.030 . . 88.0 . . . . . . . . . . -1.5270 -1.619 -1.527 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.076 . . exonic exonic exonic . . 0.063 @ . . . 0.27 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.035 . . 0.464 . . . 0.098 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.147 . . 0.121 . . . . . . 1 0.060 . . . . . 0.140 . 0.518 . HET 0.57 rs79103664 0.207 0.203 . . . . . . . . . . 5.1114 . . I.57 -2.35 . 0.500000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -0.437 -0.437000 . . 0.500000 . . 1.0E-255 0.000 0.063 . 0.104 0.997 . 0.002 . 0.006 -0.437 0.649 0.21 . . rs79103664 rs79103664 1 1538 10 1/0 0,255,255 +rs77394685 3 75786754 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786754 75786754 Chr3(GRCh37):g.75786754G>T -677 -677 NR_036235.1:n.-677G>T p.? p.? 1 rs77394685 yes no Frequency 1 G 0.000000 0 transversion G T G>T 0.937 2.385 243 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2020A:p.R674S . . . 0.2857143 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.369 . @ . . . . . 1 0.149 . . 91.0 . . . . . . . . . . -0.9467 -0.954 -0.947 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.101 . . exonic exonic exonic . . 0.169 @ . . . 0.41 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.073 0.003 . . 37 . 0.058 . . 0.361 . . . 0.033 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.119 . . 0.063 . . . . . . 1 0.381 . . . . . 0.193 . 0.472 . HET 0.32 rs77394685 0.076 0.058 . . . . . . . . . . 6.1361 . . I.57 0.65 . 0.070000 C9JSV9 . . . . . 0.244 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 0.252 0.252000 . . 0.070000 . . 1.0E-243 1.000 0.715 . 0.016 0.974 . 0.654 . 0.283 0.252 0.562 0.076 . . rs77394685 rs77394685 1 1538 10 1/0 0,246,255 +rs77394685 3 75786754 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786754 75786754 Chr3(GRCh37):g.75786754G>T 2020 2020 NM_001128223.2:c.2020C>A p.Arg674Ser p.Arg674Ser 5 1743 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs77394685 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.937 2.385 R Arg CGT 0.082 S Ser AGT 0.149 674 10 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Not scored 0.0 0.0 243 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2020A:p.R674S . . . 0.2857143 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.369 . @ . . . . . 1 0.149 . . 91.0 . . . . . . . . . . -0.9467 -0.954 -0.947 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.101 . . exonic exonic exonic . . 0.169 @ . . . 0.41 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.073 0.003 . . 37 . 0.058 . . 0.361 . . . 0.033 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.119 . . 0.063 . . . . . . 1 0.381 . . . . . 0.193 . 0.472 . HET 0.32 rs77394685 0.076 0.058 . . . . . . . . . . 6.1361 . . I.57 0.65 . 0.070000 C9JSV9 . . . . . 0.244 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 0.252 0.252000 . . 0.070000 . . 1.0E-243 1.000 0.715 . 0.016 0.974 . 0.654 . 0.283 0.252 0.562 0.076 . . rs77394685 rs77394685 1 1538 10 1/0 0,246,255 +rs75759940 3 75786759 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786759 75786759 Chr3(GRCh37):g.75786759T>C -672 -672 NR_036235.1:n.-672T>C p.? p.? 1 rs75759940 no no 0 T 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 121956 5586 20646 6782 7114 15962 49810 12890 3166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 154 Exomes transition T C T>C 0.882 -0.682 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2015G:p.K672R . . . 0.7083333 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.115 . @ . . . . . 1 0.158 . . 96.0 . . . . . . . . . . -1.6455 -1.679 -1.646 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.077 . . exonic exonic exonic . . 0.049 @ . . . 0.24 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.095 0.004 . . 37 . 0.029 . . 0.410 . . . 0.010 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.102 . . 0.080 . . . . . . 1 0.465 . . . . . 0.123 . 0.388 . HET 0.04 rs75759940 0.196 0.181 . . . . . . . . . . IV.98 . . I.57 -3.14 . 0.000000 C9JSV9 . . . . . 0.028 . . . 0 8.2e-06 0 0 0 0 2.008e-05 0 0 . . . . . . . . . . 0.093 . -1.861 -1.861000 . . 0.000000 . . 1.0E-255 0.792 0.294 . 0.043 0.943 . 0.088 . 0.021 -1.861 -0.267 0.2 . . rs75759940 rs75759940 1 1538 10 1/0 0,255,255 +rs75759940 3 75786759 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786759 75786759 Chr3(GRCh37):g.75786759T>C 2015 2015 NM_001128223.2:c.2015A>G p.Lys672Arg p.Lys672Arg 5 1738 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs75759940 no no 0 T 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 121956 5586 20646 6782 7114 15962 49810 12890 3166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 154 Exomes transition A G A>G 0.882 -0.682 K Lys AAA 0.425 R Arg AGA 0.205 672 10 1 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2015G:p.K672R . . . 0.7083333 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.115 . @ . . . . . 1 0.158 . . 96.0 . . . . . . . . . . -1.6455 -1.679 -1.646 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.077 . . exonic exonic exonic . . 0.049 @ . . . 0.24 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.095 0.004 . . 37 . 0.029 . . 0.410 . . . 0.010 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.102 . . 0.080 . . . . . . 1 0.465 . . . . . 0.123 . 0.388 . HET 0.04 rs75759940 0.196 0.181 . . . . . . . . . . IV.98 . . I.57 -3.14 . 0.000000 C9JSV9 . . . . . 0.028 . . . 0 8.2e-06 0 0 0 0 2.008e-05 0 0 . . . . . . . . . . 0.093 . -1.861 -1.861000 . . 0.000000 . . 1.0E-255 0.792 0.294 . 0.043 0.943 . 0.088 . 0.021 -1.861 -0.267 0.2 . . rs75759940 rs75759940 1 1538 10 1/0 0,255,255 +. 3 75786764 C CT - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 insertion upstream GRCh37 75786764 75786765 Chr3(GRCh37):g.75786764_75786765insT -667 -666 NR_036235.1:n.-667_-666insT p.? p.? 1 rs139062880 no no 0 0.000000 0 T 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2009_2010insA:p.T670fs . . . 0.26041666 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 96 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139062880 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs139062880 rs139062880 1 1538 10 1.I 0,9,58 +. 3 75786764 C CT - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 insertion frameshift exon GRCh37 75786764 75786765 Chr3(GRCh37):g.75786764_75786765insT 2009 2010 NM_001128223.2:c.2009_2010insA p.Lys672Glufs*79 p.Lys672Glufs*79 5 1732 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs139062880 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2009_2010insA:p.T670fs . . . 0.26041666 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 96 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139062880 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs139062880 rs139062880 1 1538 10 1.I 0,9,58 +rs76175438 3 75786773 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786773 75786773 Chr3(GRCh37):g.75786773T>A -658 -658 NR_036235.1:n.-658T>A p.? p.? 1 rs76175438 yes no Frequency 1 T 0.000000 0 transversion T A T>A 0.969 0.932 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2001T:p.R667S . . . 0.41414142 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.303 . @ . . . . . 1 0.149 . . 99.0 . . . . . . . . . . -0.6716 -0.960 -0.672 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.096 . . exonic exonic exonic . . 0.155 @ . . . 0.28 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.195 . . 0.132 . . . 0.772 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.727 . . 0 0 0 0 0 0 . 0.470 . . 0.443 . . . . . . 1 0.496 . . . . . 0.145 . 0.519 . HET 0.01 rs76175438 0.054 0.072 . . . . . . . . . . V.26 . . I.71 0.405 . 0.010000 C9JSV9 . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 0.127 0.127000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.104 0.495 . 0.017 . 0.284 0.127 -0.547 0.054 . . rs76175438 rs76175438 1 1538 10 1/0 0,252,255 +rs76175438 3 75786773 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786773 75786773 Chr3(GRCh37):g.75786773T>A 2001 2001 NM_001128223.2:c.2001A>T p.Arg667Ser p.Arg667Ser 5 1724 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76175438 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.969 0.932 R Arg AGA 0.205 S Ser AGT 0.149 667 10 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2001T:p.R667S . . . 0.41414142 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.303 . @ . . . . . 1 0.149 . . 99.0 . . . . . . . . . . -0.6716 -0.960 -0.672 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.096 . . exonic exonic exonic . . 0.155 @ . . . 0.28 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.195 . . 0.132 . . . 0.772 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.727 . . 0 0 0 0 0 0 . 0.470 . . 0.443 . . . . . . 1 0.496 . . . . . 0.145 . 0.519 . HET 0.01 rs76175438 0.054 0.072 . . . . . . . . . . V.26 . . I.71 0.405 . 0.010000 C9JSV9 . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 0.127 0.127000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.104 0.495 . 0.017 . 0.284 0.127 -0.547 0.054 . . rs76175438 rs76175438 1 1538 10 1/0 0,252,255 +rs78490340 3 75786784 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786784 75786784 Chr3(GRCh37):g.75786784T>C -647 -647 NR_036235.1:n.-647T>C p.? p.? 1 rs78490340 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.812 234 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1990G:p.I664V . . . 0.25490198 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.011 . . 102.0 . . . . . . . . . . -1.8868 -1.959 -1.887 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.081 . . exonic exonic exonic . . 0.045 @ . . . 0.28 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.031 . . 0.448 . . . 0.051 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.081 . . . . . 0.074 . 0.231 . HET 0.83 rs78490340 0.054 0.043 . . . . . . . . . . III.59 . . I.71 -3.42 . 0.640000 C9JSV9 . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -1.214 -1.214000 . . 0.640000 . . 1.0E-234 0.000 0.063 . 0.016 0.224 . 0.015 . 0.019 -1.214 0.615 0.054 . . rs78490340 rs78490340 1 1538 10 1/0 0,239,255 +rs78490340 3 75786784 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786784 75786784 Chr3(GRCh37):g.75786784T>C 1990 1990 NM_001128223.2:c.1990A>G p.Ile664Val p.Ile664Val 5 1713 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786775 1.66803 0.017719 70.5205 2.66526 0.024438 70.7761 Zinc finger, C2H2 Zinc finger, C2H2-like rs78490340 no no 0 T 0.000000 0 transition A G A>G 0.000 -1.812 I Ile ATA 0.163 V Val GTA 0.114 664 10 1 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Not scored 0.0 0.0 234 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1990G:p.I664V . . . 0.25490198 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.011 . . 102.0 . . . . . . . . . . -1.8868 -1.959 -1.887 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.081 . . exonic exonic exonic . . 0.045 @ . . . 0.28 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.031 . . 0.448 . . . 0.051 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.081 . . . . . 0.074 . 0.231 . HET 0.83 rs78490340 0.054 0.043 . . . . . . . . . . III.59 . . I.71 -3.42 . 0.640000 C9JSV9 . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -1.214 -1.214000 . . 0.640000 . . 1.0E-234 0.000 0.063 . 0.016 0.224 . 0.015 . 0.019 -1.214 0.615 0.054 . . rs78490340 rs78490340 1 1538 10 1/0 0,239,255 +rs77826574 3 75786802 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786802 75786802 Chr3(GRCh37):g.75786802G>A -629 -629 NR_036235.1:n.-629G>A p.? p.? 1 rs77826574 yes no Frequency 1 G 0.000000 0 0.000082 0.000070 0.000208 0.000000 0.000000 0.000198 0.000043 0.000000 0.000217 0.000208 14 1 5 0 0 4 3 0 1 170102 14340 24008 8100 10390 20246 70586 17834 4598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 5 0 0 4 3 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.770 234 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1972T:p.R658C . . . 0.49074075 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.456 . @ . . . . . 1 0.163 . . 108.0 . . . . . . . . . . -0.6804 -0.915 -0.680 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.176 @ . . . 0.43 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.010 . . 0.505 . . . 0.415 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.632 . . 0 0 0 0 0 0 . 0.647 . . 0.423 . . . . . . 1 0.359 . . . . . 0.043 . 0.501 . HET 0.06 rs77826574 . . . . . . . . . . . . II.98 . . I.71 0.774 . 0.200000 C9JSV9 . . . . . 0.018 . . . 0 7.719e-05 0.0002 0 0 0 1.754e-05 0.0003 0.0002 0.0001 0.0001 0 0 0 0 0.0001 0 . . 0.090 . 0.291 0.291000 . . 0.200000 . . 1.0E-234 0.000 0.063 . 0.016 0.280 . 0.070 . 0.090 0.291 0.562 . . . rs77826574 rs77826574 1 1538 10 1/0 0,255,255 +rs77826574 3 75786802 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786802 75786802 Chr3(GRCh37):g.75786802G>A 1972 1972 NM_001128223.2:c.1972C>T p.Arg658Cys p.Arg658Cys 5 1695 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786796 0.000102 71.6758 0.00551553 0.0002 73.7791 Zinc finger, C2H2 Zinc finger, C2H2-like rs77826574 yes no Frequency 1 G 0.000000 0 0.000082 0.000070 0.000208 0.000000 0.000000 0.000198 0.000043 0.000000 0.000217 0.000208 14 1 5 0 0 4 3 0 1 170102 14340 24008 8100 10390 20246 70586 17834 4598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 5 0 0 4 3 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.770 R Arg CGC 0.190 C Cys TGC 0.552 658 10 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Not scored 0.0 0.0 234 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1972T:p.R658C . . . 0.49074075 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.456 . @ . . . . . 1 0.163 . . 108.0 . . . . . . . . . . -0.6804 -0.915 -0.680 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.176 @ . . . 0.43 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.010 . . 0.505 . . . 0.415 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.632 . . 0 0 0 0 0 0 . 0.647 . . 0.423 . . . . . . 1 0.359 . . . . . 0.043 . 0.501 . HET 0.06 rs77826574 . . . . . . . . . . . . II.98 . . I.71 0.774 . 0.200000 C9JSV9 . . . . . 0.018 . . . 0 7.719e-05 0.0002 0 0 0 1.754e-05 0.0003 0.0002 0.0001 0.0001 0 0 0 0 0.0001 0 . . 0.090 . 0.291 0.291000 . . 0.200000 . . 1.0E-234 0.000 0.063 . 0.016 0.280 . 0.070 . 0.090 0.291 0.562 . . . rs77826574 rs77826574 1 1538 10 1/0 0,255,255 +. 3 75786817 CACATTCATT C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75786822 75786830 Chr3(GRCh37):g.75786822_75786830del -609 -601 NR_036235.1:n.-609_-601del p.? p.? 1 rs201263569 no no 0 0.000000 0 TCATTACAT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1948_1956del:p.650_652del . . . 0.1262136 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201263569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201263569 rs201263569 1 1538 10 1.I 0,5,90 +. 3 75786817 CACATTCATT C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion in-frame exon GRCh37 75786818 75786826 Chr3(GRCh37):g.75786818_75786826del 1948 1956 NM_001128223.2:c.1948_1956del p.Asn650_Cys652del p.Asn650_Cys652del 5 1671 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs201263569 no no 0 0.000000 0 AATGAATGT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1948_1956del:p.650_652del . . . 0.1262136 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201263569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201263569 rs201263569 1 1538 10 1.I 0,5,90 +rs79635065 3 75786827 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786827 75786827 Chr3(GRCh37):g.75786827A>T -604 -604 NR_036235.1:n.-604A>T p.? p.? 1 rs79635065 no no 0 0.000000 0 transversion A T A>T 0.378 0.367 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1947A:p.C649X . . . 0.773913 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.962 . @ . . . . . 0 0.342 . . 115.0 . . . . . . . . . . -0.0787 -0.473 -0.079 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.233 @ . . . 0.35 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.089 . . . HOM 0.08 rs79635065 0.283 0.254 . . . . . . . . . . III.38 . . I.71 I.71 . 1.000000 . . . . . . 0.060 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 1.073 1.073000 . . 1.000000 . . 1.0E-255 0.432 0.262 . 0.062 0.991 . 0.240 . 0.281 1.073 0.649 0.28 . . rs79635065 rs79635065 1 1538 10 1/0 0,248,243 +rs79635065 3 75786827 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75786827 75786827 Chr3(GRCh37):g.75786827A>T 1947 1947 NM_001128223.2:c.1947T>A p.Cys649* p.Cys649* 5 1670 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs79635065 no no 0 0.000000 0 transversion T A T>A 0.378 0.367 C Cys TGT 0.448 * * TGA 0.489 649 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1947A:p.C649X . . . 0.773913 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.962 . @ . . . . . 0 0.342 . . 115.0 . . . . . . . . . . -0.0787 -0.473 -0.079 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.233 @ . . . 0.35 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.089 . . . HOM 0.08 rs79635065 0.283 0.254 . . . . . . . . . . III.38 . . I.71 I.71 . 1.000000 . . . . . . 0.060 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 1.073 1.073000 . . 1.000000 . . 1.0E-255 0.432 0.262 . 0.062 0.991 . 0.240 . 0.281 1.073 0.649 0.28 . . rs79635065 rs79635065 1 1538 10 1/0 0,248,243 +rs76921234 3 75786854 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786854 75786854 Chr3(GRCh37):g.75786854A>T -577 -577 NR_036235.1:n.-577A>T p.? p.? 1 rs76921234 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.819 -0.198 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1920A:p.T640T . . . 0.46478873 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 142.0 . . . . . . . . . . -0.0406 . . . . . . . . 2.599e-05 . . . 0 0 0 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76921234 0.196 0.174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 . . rs76921234 rs76921234 1 1538 10 1/0 0,240,255 +rs76921234 3 75786854 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786854 75786854 Chr3(GRCh37):g.75786854A>T 1920 1920 NM_001128223.2:c.1920T>A p.Thr640= p.Thr640Thr 5 1643 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76921234 yes no Frequency 1 A 0.000000 0 transversion T A T>A 0.819 -0.198 T Thr ACT 0.243 T Thr ACA 0.280 640 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1920A:p.T640T . . . 0.46478873 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 142.0 . . . . . . . . . . -0.0406 . . . . . . . . 2.599e-05 . . . 0 0 0 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76921234 0.196 0.174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 . . rs76921234 rs76921234 1 1538 10 1/0 0,240,255 +rs78906544 3 75786916 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786916 75786916 Chr3(GRCh37):g.75786916C>A -515 -515 NR_036235.1:n.-515C>A p.? p.? 1 rs78906544 yes no Frequency 1 C 0.000000 0 transversion C A C>A 0.063 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1858T:p.E620X . . . 0.39378238 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.943 . @ . . . . . 0 0.318 . . 193.0 . . . . . . . . . . -0.4200 -0.826 -0.420 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.132 @ . . . 0.3 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.037 . . . HET 0.9 rs78906544 0.033 0.029 . . . . . . . . . . II.99 . . 1.IX -0.0353 . 1.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.007 -0.007000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.981 . 0.002 . 0.028 -0.007 0.542 0.033 . . rs78906544 rs78906544 1 1538 10 1/0 0,222,250 +rs78906544 3 75786916 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75786916 75786916 Chr3(GRCh37):g.75786916C>A 1858 1858 NM_001128223.2:c.1858G>T p.Glu620* p.Glu620* 5 1581 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs78906544 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.063 -0.117 E Glu GAA 0.417 * * TAA 0.277 620 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1858T:p.E620X . . . 0.39378238 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.943 . @ . . . . . 0 0.318 . . 193.0 . . . . . . . . . . -0.4200 -0.826 -0.420 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.132 @ . . . 0.3 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.037 . . . HET 0.9 rs78906544 0.033 0.029 . . . . . . . . . . II.99 . . 1.IX -0.0353 . 1.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.007 -0.007000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.981 . 0.002 . 0.028 -0.007 0.542 0.033 . . rs78906544 rs78906544 1 1538 10 1/0 0,222,250 +rs77101176 3 75786919 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786919 75786919 Chr3(GRCh37):g.75786919A>T -512 -512 NR_036235.1:n.-512A>T p.? p.? 1 rs77101176 no no 0 A 0.000000 0 transversion A T A>T 0.622 3.353 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1855A:p.Y619N . . . 0.3888889 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.545 . @ . . . . . 1 0.368 . . 198.0 . . . . . . . . . . -0.0139 -0.322 -0.014 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.247 @ . . . 0.35 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.050 0.002 . . 37 . 0.498 . . 0.316 . . . 0.721 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.924 . . 0 0 0 0 0 0 . 0.715 . . 0.651 . . . . . . 1 0.632 . . . . . 0.286 . 0.505 . HET 0 rs77101176 0.033 0.029 . . . . . . . . . . VII.03 . . 1.IX 1.IX . 0.000000 C9JSV9 . . . . . 0.109 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.165 1.165000 . . 0.000000 . . 1.0E-255 0.266 0.248 . 0.043 0.936 . 0.632 . 0.310 1.165 0.649 0.033 . . rs77101176 rs77101176 1 1538 10 1/0 0,221,252 +rs77101176 3 75786919 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786919 75786919 Chr3(GRCh37):g.75786919A>T 1855 1855 NM_001128223.2:c.1855T>A p.Tyr619Asn p.Tyr619Asn 5 1578 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77101176 no no 0 A 0.000000 0 transversion T A T>A 0.622 3.353 Y Tyr TAT 0.438 N Asn AAT 0.464 619 10 9 Cow -2 -2 -4 0.2 I.33 6.II 11.VI 136 56 143 C55 21.61 139.96 Deleterious 0 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1855A:p.Y619N . . . 0.3888889 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.545 . @ . . . . . 1 0.368 . . 198.0 . . . . . . . . . . -0.0139 -0.322 -0.014 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.247 @ . . . 0.35 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.050 0.002 . . 37 . 0.498 . . 0.316 . . . 0.721 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.924 . . 0 0 0 0 0 0 . 0.715 . . 0.651 . . . . . . 1 0.632 . . . . . 0.286 . 0.505 . HET 0 rs77101176 0.033 0.029 . . . . . . . . . . VII.03 . . 1.IX 1.IX . 0.000000 C9JSV9 . . . . . 0.109 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.165 1.165000 . . 0.000000 . . 1.0E-255 0.266 0.248 . 0.043 0.936 . 0.632 . 0.310 1.165 0.649 0.033 . . rs77101176 rs77101176 1 1538 10 1/0 0,221,252 +rs757180235 3 75786921 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786921 75786921 Chr3(GRCh37):g.75786921G>A -510 -510 NR_036235.1:n.-510G>A p.? p.? 1 rs757180235 yes no Frequency 1 G 0.000000 0 transition G A G>A 0.984 2.465 190 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1853T:p.P618L . . . 0.13541667 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.698 . . 192.0 . . . . . . . . . . 0.1499 -0.079 0.150 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.275 . . exonic exonic exonic . . 0.247 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.056 0.003 . . 37 . 0.464 . . 0.527 . . . 0.665 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.979 . . 0 0 0 0 0 0 . 0.764 . . 0.564 . . . . . . 1 0.453 . . . . . 0.408 . 0.480 . LowAF 0 . . . . . . . . . . . . . IX.69 . . 1.IX 1.IX . 0.050000 C9JSV9 . . . . . 0.230 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.423 1.423000 . . 0.050000 . . 1.0E-190 1.000 0.715 . 0.016 0.886 . 0.657 . 0.114 1.423 0.562 . rs11122678 rs11122678 . . 1 1538 10 1/0 0,201,255 +rs757180235 3 75786921 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786921 75786921 Chr3(GRCh37):g.75786921G>A 1853 1853 NM_001128223.2:c.1853C>T p.Pro618Leu p.Pro618Leu 5 1576 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs757180235 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.984 2.465 P Pro CCC 0.328 L Leu CTC 0.197 618 10 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 208.63 94.04 Not scored 0.0 0.0 190 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1853T:p.P618L . . . 0.13541667 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.698 . . 192.0 . . . . . . . . . . 0.1499 -0.079 0.150 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.275 . . exonic exonic exonic . . 0.247 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.056 0.003 . . 37 . 0.464 . . 0.527 . . . 0.665 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.979 . . 0 0 0 0 0 0 . 0.764 . . 0.564 . . . . . . 1 0.453 . . . . . 0.408 . 0.480 . LowAF 0 . . . . . . . . . . . . . IX.69 . . 1.IX 1.IX . 0.050000 C9JSV9 . . . . . 0.230 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.423 1.423000 . . 0.050000 . . 1.0E-190 1.000 0.715 . 0.016 0.886 . 0.657 . 0.114 1.423 0.562 . rs11122678 rs11122678 . . 1 1538 10 1/0 0,201,255 +. 3 75786965 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786965 75786965 Chr3(GRCh37):g.75786965C>T -466 -466 NR_036235.1:n.-466C>T p.? p.? 1 transition C T C>T 0.000 0.125 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1809A:p.K603K . . . 0.43137255 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.29 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112478715 0.033 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs76347222 rs112478715 1 1538 10 1/0 0,225,254 +. 3 75786965 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786965 75786965 Chr3(GRCh37):g.75786965C>T 1809 1809 NM_001128223.2:c.1809G>A p.Lys603= p.Lys603Lys 5 1532 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like transition G A G>A 0.000 0.125 K Lys AAG 0.575 K Lys AAA 0.425 603 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1809A:p.K603K . . . 0.43137255 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.29 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112478715 0.033 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs76347222 rs112478715 1 1538 10 1/0 0,225,254 +rs76496075 3 75786991 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786991 75786991 Chr3(GRCh37):g.75786991C>T -440 -440 NR_036235.1:n.-440C>T p.? p.? 1 rs76496075 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 0.286 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1783A:p.E595K . . . 0.41262135 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.547 . . 206.0 . . . . . . . . . . -0.5673 -0.792 -0.567 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.189 @ . . . 0.29 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.101 . . 0.249 . . . 0.196 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.511 . . 0 0 0 0 0 0 . 0.458 . . 0.477 . . . . . . 1 0.306 . . . . . 0.209 . 0.440 . HET 0.14 rs112348731 0.022 0.022 . . . . . . . . . . VI.34 . . 1.IX 0.993 . 0.050000 C9JSV9 . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.389 0.389000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.134 0.998 . 0.089 . 0.282 0.389 0.542 0.022 . . rs76496075 rs112348731 1 1538 10 1/0 0,223,255 +rs76496075 3 75786991 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786991 75786991 Chr3(GRCh37):g.75786991C>T 1783 1783 NM_001128223.2:c.1783G>A p.Glu595Lys p.Glu595Lys 5 1506 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76496075 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 0.286 E Glu GAA 0.417 K Lys AAA 0.425 595 10 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1783A:p.E595K . . . 0.41262135 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.547 . . 206.0 . . . . . . . . . . -0.5673 -0.792 -0.567 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.189 @ . . . 0.29 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.101 . . 0.249 . . . 0.196 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.511 . . 0 0 0 0 0 0 . 0.458 . . 0.477 . . . . . . 1 0.306 . . . . . 0.209 . 0.440 . HET 0.14 rs112348731 0.022 0.022 . . . . . . . . . . VI.34 . . 1.IX 0.993 . 0.050000 C9JSV9 . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.389 0.389000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.134 0.998 . 0.089 . 0.282 0.389 0.542 0.022 . . rs76496075 rs112348731 1 1538 10 1/0 0,223,255 +rs149887072 3 75786993 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786993 75786993 Chr3(GRCh37):g.75786993T>A -438 -438 NR_036235.1:n.-438T>A p.? p.? 1 rs149887072 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128178 5998 21414 6818 8460 16948 51550 13628 3362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 80 Exomes transversion T A T>A 0.000 -0.198 196 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1781T:p.N594I . . . 0.14851485 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.458 . @ . . . . . 1 0.383 . . 202.0 . . . . . . . . . . -0.7248 -1.023 -0.725 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.053 @ . . . 0.32 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.109 . . 0.135 . . . 0.376 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.825 . . 0 0 0 0 0 0 . 0.502 . . 0.493 . . . . . . 1 0.721 . . . . . 0.088 . 0.436 . LowAF 0.02 rs149887072 0.011 0.007 . . . . . . . . . . III.31 . . 1.IX -2.88 . 0.150000 C9JSV9 . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.000 . -0.642 -0.642000 . . 0.150000 . . 1.0E-196 0.000 0.063 . 0.114 0.998 . 0.012 . 0.286 -0.642 0.615 0.011 . . rs149887072 rs149887072 1 1538 10 1/0 0,200,255 +rs149887072 3 75786993 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786993 75786993 Chr3(GRCh37):g.75786993T>A 1781 1781 NM_001128223.2:c.1781A>T p.Asn594Ile p.Asn594Ile 5 1504 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs149887072 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128178 5998 21414 6818 8460 16948 51550 13628 3362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 80 Exomes transversion A T A>T 0.000 -0.198 N Asn AAT 0.464 I Ile ATT 0.356 594 10 1 -2 -3 -6 I.33 0 11.VI 5.II 56 111 149 C0 353.86 0.00 Not scored 0.0 0.0 196 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1781T:p.N594I . . . 0.14851485 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.458 . @ . . . . . 1 0.383 . . 202.0 . . . . . . . . . . -0.7248 -1.023 -0.725 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.053 @ . . . 0.32 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.109 . . 0.135 . . . 0.376 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.825 . . 0 0 0 0 0 0 . 0.502 . . 0.493 . . . . . . 1 0.721 . . . . . 0.088 . 0.436 . LowAF 0.02 rs149887072 0.011 0.007 . . . . . . . . . . III.31 . . 1.IX -2.88 . 0.150000 C9JSV9 . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.000 . -0.642 -0.642000 . . 0.150000 . . 1.0E-196 0.000 0.063 . 0.114 0.998 . 0.012 . 0.286 -0.642 0.615 0.011 . . rs149887072 rs149887072 1 1538 10 1/0 0,200,255 +rs76263679 3 75787015 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787015 75787015 Chr3(GRCh37):g.75787015C>T -416 -416 NR_036235.1:n.-416C>T p.? p.? 1 rs76263679 no no 0 C 0.000000 0 transition C T C>T 0.984 3.918 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1759A:p.G587S . . . 0.35789475 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.677 . @ . . . . . 1 0.648 . . 190.0 . . . . . . . . . . -0.1264 -0.431 -0.126 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.250 . . exonic exonic exonic . . 0.237 @ . . . 0.3 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.048 0.002 . . 37 . 0.461 . . 0.546 . . . 0.320 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.813 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 1 0.614 . . . . . 0.389 . 0.512 . HET 0 rs76263679 0.043 0.036 . . . . . . . . . . IX.91 . . I.76 I.76 . 0.000000 C9JSV9 . . . . . 0.079 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.343 1.343000 . . 0.000000 . . 1.0E-255 0.441 0.263 . 0.043 0.838 . 0.499 . 0.287 1.343 0.542 0.043 . . rs76263679 rs111576331 1 1538 10 1/0 0,221,255 +rs76263679 3 75787015 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787015 75787015 Chr3(GRCh37):g.75787015C>T 1759 1759 NM_001128223.2:c.1759G>A p.Gly587Ser p.Gly587Ser 5 1482 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs76263679 no no 0 C 0.000000 0 transition G A G>A 0.984 3.918 G Gly GGC 0.342 S Ser AGC 0.243 587 10 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1759A:p.G587S . . . 0.35789475 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.677 . @ . . . . . 1 0.648 . . 190.0 . . . . . . . . . . -0.1264 -0.431 -0.126 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.250 . . exonic exonic exonic . . 0.237 @ . . . 0.3 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.048 0.002 . . 37 . 0.461 . . 0.546 . . . 0.320 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.813 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 1 0.614 . . . . . 0.389 . 0.512 . HET 0 rs76263679 0.043 0.036 . . . . . . . . . . IX.91 . . I.76 I.76 . 0.000000 C9JSV9 . . . . . 0.079 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.343 1.343000 . . 0.000000 . . 1.0E-255 0.441 0.263 . 0.043 0.838 . 0.499 . 0.287 1.343 0.542 0.043 . . rs76263679 rs111576331 1 1538 10 1/0 0,221,255 +rs76729736 3 75787032 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787032 75787032 Chr3(GRCh37):g.75787032T>C -399 -399 NR_036235.1:n.-399T>C p.? p.? 1 rs76729736 no no 0 T 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000676 0.000000 0.000000 0.000000 0.000000 0.000676 5 0 0 0 5 0 0 0 0 98168 5336 16764 4328 7400 10806 41562 9338 2634 0.200000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 3 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 86 Exomes transition T C T>C 0.992 1.820 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1742G:p.H581R . . . 0.36507937 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.378 . @ . . . . . 1 0.057 . . 189.0 . . . . . . . . . . -0.6022 -0.767 -0.602 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.161 @ . . . 0.34 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.164 0.006 . . 37 . 0.893 . . 0.838 . . . 0.959 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.944 . . 0 0 0 0 0 0 . 0.192 . . 0.220 . . . . . . 1 0.450 . . . . . 0.156 . 0.518 . HET 0 rs111273070 0.022 0.014 . . . . . . . . . . V.55 . . I.76 0.513 . 0.010000 C9JSV9 . . . . . 0.230 . . . 0 5.093e-05 0 0 0.0007 0 0 0 0 . . . . . . . . . . 0.321 . 0.158 0.158000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.083 0.536 . 0.424 . 0.117 0.158 0.615 0.022 . . rs76729736 rs111273070 1 1538 10 1/0 0,223,255 +rs76729736 3 75787032 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787032 75787032 Chr3(GRCh37):g.75787032T>C 1742 1742 NM_001128223.2:c.1742A>G p.His581Arg p.His581Arg 5 1465 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76729736 no no 0 T 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000676 0.000000 0.000000 0.000000 0.000000 0.000676 5 0 0 0 5 0 0 0 0 98168 5336 16764 4328 7400 10806 41562 9338 2634 0.200000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 3 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 86 Exomes transition A G A>G 0.992 1.820 H His CAT 0.413 R Arg CGT 0.082 581 10 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1742G:p.H581R . . . 0.36507937 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.378 . @ . . . . . 1 0.057 . . 189.0 . . . . . . . . . . -0.6022 -0.767 -0.602 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.161 @ . . . 0.34 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.164 0.006 . . 37 . 0.893 . . 0.838 . . . 0.959 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.944 . . 0 0 0 0 0 0 . 0.192 . . 0.220 . . . . . . 1 0.450 . . . . . 0.156 . 0.518 . HET 0 rs111273070 0.022 0.014 . . . . . . . . . . V.55 . . I.76 0.513 . 0.010000 C9JSV9 . . . . . 0.230 . . . 0 5.093e-05 0 0 0.0007 0 0 0 0 . . . . . . . . . . 0.321 . 0.158 0.158000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.083 0.536 . 0.424 . 0.117 0.158 0.615 0.022 . . rs76729736 rs111273070 1 1538 10 1/0 0,223,255 +. 3 75787098 CCT C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75787099 75787100 Chr3(GRCh37):g.75787099_75787100del -332 -331 NR_036235.1:n.-332_-331del p.? p.? 1 0.000141 0.000097 0.000140 0.000000 0.000000 0.000551 0.000145 0.000000 0.000000 0.000551 13 1 2 0 0 4 6 0 0 92296 10284 14308 2522 7894 7258 41320 6040 2670 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 2 0 0 4 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes CT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1674_1675del:p.T558fs . . . 0.36125654 . . . 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146514807 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0 0 0 0.0002 0 0.0006 0.0002 9.288e-05 0 0 0 0 9.372e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74340838 rs146514807 1 1538 10 1.I 0,11,44 +. 3 75787098 CCT C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion frameshift exon GRCh37 75787099 75787100 Chr3(GRCh37):g.75787099_75787100del 1674 1675 NM_001128223.2:c.1674_1675del p.Glu560Lysfs*4 p.Glu560Lysfs*4 5 1397 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 0.000141 0.000097 0.000140 0.000000 0.000000 0.000551 0.000145 0.000000 0.000000 0.000551 13 1 2 0 0 4 6 0 0 92296 10284 14308 2522 7894 7258 41320 6040 2670 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 2 0 0 4 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AG 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1674_1675del:p.T558fs . . . 0.36125654 . . . 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146514807 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0 0 0 0.0002 0 0.0006 0.0002 9.288e-05 0 0 0 0 9.372e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74340838 rs146514807 1 1538 10 1.I 0,11,44 +rs77490669 3 75787116 T G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787116 75787116 Chr3(GRCh37):g.75787116T>G -315 -315 NR_036235.1:n.-315T>G p.? p.? 1 rs77490669 no no 0 T 0.000000 0 transversion T G T>G 1.000 3.353 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1658C:p.H553P . . . 0.38423645 . . @ 78 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.541 . @ . . . . . 1 0.183 . . 203.0 . . . . . . . . . . 0.3603 0.050 0.360 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.248 @ . . . 0.27 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.135 0.005 . . 37 . 0.944 . . 0.945 . . . 0.964 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.986 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.682 . . . . . 0.288 . 0.593 . HET 0 rs77490669 0.033 0.029 . . . . . . . . . . VII.64 . . I.92 I.92 . 0.000000 C9JSV9 . . . . . 0.292 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.189 1.189000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.111 0.665 . 0.685 . 0.286 1.189 0.615 0.033 . . rs77490669 rs142824987 1 1538 10 1/0 0,221,255 +rs77490669 3 75787116 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787116 75787116 Chr3(GRCh37):g.75787116T>G 1658 1658 NM_001128223.2:c.1658A>C p.His553Pro p.His553Pro 5 1381 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77490669 no no 0 T 0.000000 0 transversion A C A>C 1.000 3.353 H His CAT 0.413 P Pro CCT 0.283 553 10 1 -2 -2 -4 0.58 0.39 10.IV 8 96 32.5 77 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1658C:p.H553P . . . 0.38423645 . . @ 78 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.541 . @ . . . . . 1 0.183 . . 203.0 . . . . . . . . . . 0.3603 0.050 0.360 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.248 @ . . . 0.27 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.135 0.005 . . 37 . 0.944 . . 0.945 . . . 0.964 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.986 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.682 . . . . . 0.288 . 0.593 . HET 0 rs77490669 0.033 0.029 . . . . . . . . . . VII.64 . . I.92 I.92 . 0.000000 C9JSV9 . . . . . 0.292 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.189 1.189000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.111 0.665 . 0.685 . 0.286 1.189 0.615 0.033 . . rs77490669 rs142824987 1 1538 10 1/0 0,221,255 +rs74740396 3 75787127 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787127 75787127 Chr3(GRCh37):g.75787127G>T -304 -304 NR_036235.1:n.-304G>T p.? p.? 1 rs74740396 no no 0 G 0.000000 0 transversion G T G>T 0.008 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1647A:p.Y549X . . . 0.4329897 . . @ 84 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.925 . @ . . . . . 0 0.304 . . 194.0 . . . . . . . . . . -0.5294 -0.984 -0.529 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.039 @ . . . 0.28 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.055 . . . HET 0 rs74740396 0.033 0.029 . . . . . . . . . . II.18 . . I.92 -3.85 . 1.000000 . . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.090 . -0.987 -0.987000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.166 . 0.034 . 0.021 -0.987 -0.617 0.033 . . rs74740396 rs148624740 1 1538 10 1/0 0,227,255 +rs74740396 3 75787127 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75787127 75787127 Chr3(GRCh37):g.75787127G>T 1647 1647 NM_001128223.2:c.1647C>A p.Tyr549* p.Tyr549* 5 1370 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs74740396 no no 0 G 0.000000 0 transversion C A C>A 0.008 -0.117 Y Tyr TAC 0.562 * * TAA 0.277 549 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1647A:p.Y549X . . . 0.4329897 . . @ 84 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.925 . @ . . . . . 0 0.304 . . 194.0 . . . . . . . . . . -0.5294 -0.984 -0.529 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.039 @ . . . 0.28 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.055 . . . HET 0 rs74740396 0.033 0.029 . . . . . . . . . . II.18 . . I.92 -3.85 . 1.000000 . . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.090 . -0.987 -0.987000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.166 . 0.034 . 0.021 -0.987 -0.617 0.033 . . rs74740396 rs148624740 1 1538 10 1/0 0,227,255 +rs79560192 3 75787145 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787145 75787145 Chr3(GRCh37):g.75787145T>C -286 -286 NR_036235.1:n.-286T>C p.? p.? 1 rs79560192 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 -2.377 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1629G:p.T543T . . . 0.59358287 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.3940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79560192 0.196 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 rs12562389 rs12562389 rs79560192 rs148329308 1 1538 10 1/0 0,240,249 +rs79560192 3 75787145 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787145 75787145 Chr3(GRCh37):g.75787145T>C 1629 1629 NM_001128223.2:c.1629A>G p.Thr543= p.Thr543Thr 5 1352 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs79560192 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 -2.377 T Thr ACA 0.280 T Thr ACG 0.116 543 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1629G:p.T543T . . . 0.59358287 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.3940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79560192 0.196 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 rs12562389 rs12562389 rs79560192 rs148329308 1 1538 10 1/0 0,240,249 +rs77322475 3 75787159 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787159 75787159 Chr3(GRCh37):g.75787159C>T -272 -272 NR_036235.1:n.-272C>T p.? p.? 1 rs77322475 yes no Frequency 1 C 0.000000 0 0.000488 0.000219 0.000000 0.000000 0.000000 0.004466 0.000260 0.000000 0.000000 0.004466 35 2 0 0 0 25 8 0 0 71748 9134 11448 1584 7238 5598 30828 3776 2142 0.000084 0.000000 0.000000 0.000000 0.000000 0.000715 0.000065 0.000000 0.000000 3 0 0 0 0 2 1 0 0 29 2 0 0 0 21 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1615A:p.E539K . . . 0.7433155 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.105 . . 187.0 . . . . . . . . . . -1.6583 -1.788 -1.658 c . . . . . 3.179e-04 . . . 0 0.0035 0 0 0 0.0041 0 0.0070 0 0.0029 0 0 0 0 . 0.0070 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.043 @ . . . 0.35 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Likely_benign . 0 . . . . . . T 0.012 0.001 . . 37 . 0.040 . . 0.357 . . . 0.335 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.291 . . 0.158 . . . . . . 1 0.379 . . . . . 0.013 . 0.432 . HET 0.02 rs77322475 0.337 0.304 . . . . . . . . . . 0.9706 . . 1.VIII -3.59 . 0.080000 C9JSV9 . . . . . 0.016 . . . 0.0002 0.0006 0 0 0 0 0.0003 0 0.0045 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.321 . -1.049 -1.049000 . . 0.080000 . . 1.0E-255 0.000 0.063 . 0.043 0.289 . 0.020 . 0.031 -1.049 -1.906 0.34 . . rs77322475 rs201980888 1 1538 10 1/0 0,243,241 +rs77322475 3 75787159 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787159 75787159 Chr3(GRCh37):g.75787159C>T 1615 1615 NM_001128223.2:c.1615G>A p.Glu539Lys p.Glu539Lys 5 1338 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77322475 yes no Frequency 1 C 0.000000 0 0.000488 0.000219 0.000000 0.000000 0.000000 0.004466 0.000260 0.000000 0.000000 0.004466 35 2 0 0 0 25 8 0 0 71748 9134 11448 1584 7238 5598 30828 3776 2142 0.000084 0.000000 0.000000 0.000000 0.000000 0.000715 0.000065 0.000000 0.000000 3 0 0 0 0 2 1 0 0 29 2 0 0 0 21 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.198 E Glu GAA 0.417 K Lys AAA 0.425 539 10 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1615A:p.E539K . . . 0.7433155 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.105 . . 187.0 . . . . . . . . . . -1.6583 -1.788 -1.658 c . . . . . 3.179e-04 . . . 0 0.0035 0 0 0 0.0041 0 0.0070 0 0.0029 0 0 0 0 . 0.0070 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.043 @ . . . 0.35 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Likely_benign . 0 . . . . . . T 0.012 0.001 . . 37 . 0.040 . . 0.357 . . . 0.335 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.291 . . 0.158 . . . . . . 1 0.379 . . . . . 0.013 . 0.432 . HET 0.02 rs77322475 0.337 0.304 . . . . . . . . . . 0.9706 . . 1.VIII -3.59 . 0.080000 C9JSV9 . . . . . 0.016 . . . 0.0002 0.0006 0 0 0 0 0.0003 0 0.0045 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.321 . -1.049 -1.049000 . . 0.080000 . . 1.0E-255 0.000 0.063 . 0.043 0.289 . 0.020 . 0.031 -1.049 -1.906 0.34 . . rs77322475 rs201980888 1 1538 10 1/0 0,243,241 +rs202060190 3 75787194 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787194 75787194 Chr3(GRCh37):g.75787194C>T -237 -237 NR_036235.1:n.-237C>T p.? p.? 1 rs202060190 no no 0 C 0.000000 0 transition C T C>T 0.992 0.932 189 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1580A:p.R527K . . . 0.13333334 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.402 . @ . . . . . 1 0.295 . . 150.0 . . . . . . . . . . -0.8450 -0.964 -0.845 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.182 @ . . . 0.35 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.058 0.003 . . 37 . 0.092 . . 0.245 . . . 0.125 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.429 . . 0 0 0 0 0 0 . 0.444 . . 0.416 . . . . . . 1 0.096 . . . . . 0.211 . 0.378 . LowAF 0.08 rs202060190 0.011 0.007 . . . . . . . . . . VI.89 . . I.79 0.879 . 0.170000 C9JSV9 . . . . . 0.056 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.362 0.362000 . . 0.170000 . . 1.0E-189 0.000 0.063 . 0.043 0.291 . 0.126 . 0.287 0.362 -0.269 0.011 . . rs202060190 rs202060190 1 1538 10 1/0 0,212,255 +rs202060190 3 75787194 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787194 75787194 Chr3(GRCh37):g.75787194C>T 1580 1580 NM_001128223.2:c.1580G>A p.Arg527Lys p.Arg527Lys 5 1303 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs202060190 no no 0 C 0.000000 0 transition G A G>A 0.992 0.932 R Arg AGA 0.205 K Lys AAA 0.425 527 10 6 Opossum 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 241.65 0.00 Tolerated 0.18 III.94 189 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1580A:p.R527K . . . 0.13333334 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.402 . @ . . . . . 1 0.295 . . 150.0 . . . . . . . . . . -0.8450 -0.964 -0.845 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.182 @ . . . 0.35 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.058 0.003 . . 37 . 0.092 . . 0.245 . . . 0.125 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.429 . . 0 0 0 0 0 0 . 0.444 . . 0.416 . . . . . . 1 0.096 . . . . . 0.211 . 0.378 . LowAF 0.08 rs202060190 0.011 0.007 . . . . . . . . . . VI.89 . . I.79 0.879 . 0.170000 C9JSV9 . . . . . 0.056 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.362 0.362000 . . 0.170000 . . 1.0E-189 0.000 0.063 . 0.043 0.291 . 0.126 . 0.287 0.362 -0.269 0.011 . . rs202060190 rs202060190 1 1538 10 1/0 0,212,255 +. 3 75787202 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787202 75787202 Chr3(GRCh37):g.75787202G>T -229 -229 NR_036235.1:n.-229G>T p.? p.? 1 transversion G T G>T 0.000 -1.651 229 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1572A:p.V524V . . . 0.23913044 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . . . . . . . . . -0.5269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs76713735 rs76713735 1 1538 10 1/0 0,225,255 +. 3 75787202 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787202 75787202 Chr3(GRCh37):g.75787202G>T 1572 1572 NM_001128223.2:c.1572C>A p.Val524= p.Val524Val 5 1295 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like transversion C A C>A 0.000 -1.651 V Val GTC 0.240 V Val GTA 0.114 524 229 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1572A:p.V524V . . . 0.23913044 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . . . . . . . . . -0.5269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs76713735 rs76713735 1 1538 10 1/0 0,225,255 +. 3 75787204 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787204 75787204 Chr3(GRCh37):g.75787204C>A -227 -227 NR_036235.1:n.-227C>A p.? p.? 1 transversion C A C>A 0.000 -1.086 231 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1570T:p.V524F . . . 0.24626866 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.259 . . 134.0 . . . . . . . . . . -1.1143 -1.361 -1.114 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.043 @ . . . 0.35 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.058 . . 0.246 . . . 0.241 0.191 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.468 . . 0.409 . . . . . . 1 0.398 . . . . . 0.096 . 0.473 . HET 0.15 . . . . . . . . . . . . . 4.1379 . . I.79 -3.58 . 0.340000 C9JSV9 . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -1.068 -1.068000 . . 0.340000 . . 1.0E-231 0.000 0.063 . 0.016 0.060 . 0.006 . 0.008 -1.068 -0.609 . . . rs75063165 rs75063165 1 1538 10 1/0 0,227,255 +. 3 75787204 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787204 75787204 Chr3(GRCh37):g.75787204C>A 1570 1570 NM_001128223.2:c.1570G>T p.Val524Phe p.Val524Phe 5 1293 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787195 5.31149 0.25346 77.5492 6.582 0.643495 83.0019 Zinc finger, C2H2 Zinc finger, C2H2-like transversion G T G>T 0.000 -1.086 V Val GTC 0.240 F Phe TTC 0.546 524 10 5 Opossum 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Deleterious 0.03 III.94 231 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1570T:p.V524F . . . 0.24626866 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.259 . . 134.0 . . . . . . . . . . -1.1143 -1.361 -1.114 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.043 @ . . . 0.35 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.058 . . 0.246 . . . 0.241 0.191 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.468 . . 0.409 . . . . . . 1 0.398 . . . . . 0.096 . 0.473 . HET 0.15 . . . . . . . . . . . . . 4.1379 . . I.79 -3.58 . 0.340000 C9JSV9 . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -1.068 -1.068000 . . 0.340000 . . 1.0E-231 0.000 0.063 . 0.016 0.060 . 0.006 . 0.008 -1.068 -0.609 . . . rs75063165 rs75063165 1 1538 10 1/0 0,227,255 +. 3 75787264 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787264 75787264 Chr3(GRCh37):g.75787264C>T -167 -167 NR_036235.1:n.-167C>T p.? p.? 1 rs796543994 no no 0 0.000000 0 transition C T C>T 1.000 2.465 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1510A:p.E504K . . . 0.37719297 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.666 . @ . . . . . 1 0.910 . . 114.0 . . . . . . . . . . -0.6570 -0.698 -0.657 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.243 . . exonic exonic exonic . . 0.180 @ . . . 0.34 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.118 0.005 . . 37 . 0.198 . . 0.223 . . . 0.255 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.646 . . 0 0 0 0 0 0 . 0.332 . . 0.348 . . . . . . 1 0.632 . . . . . 0.225 . 0.474 . HET 0 rs149301206 . . . . . . . . . . . . 6.743 . . I.76 0.847 . 0.020000 C9JSV9 . . . . . 0.160 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.338 0.338000 . . 0.020000 . . 1.0E-255 0.915 0.316 . 0.043 0.475 . 0.436 . 0.026 0.338 0.542 . . . rs80019510 rs149301206 1 1538 10 1/0 0,245,255 +. 3 75787264 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787264 75787264 Chr3(GRCh37):g.75787264C>T 1510 1510 NM_001128223.2:c.1510G>A p.Glu504Lys p.Glu504Lys 5 1233 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs796543994 no no 0 0.000000 0 transition G A G>A 1.000 2.465 E Glu GAA 0.417 K Lys AAA 0.425 504 10 2 Opossum 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.15 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1510A:p.E504K . . . 0.37719297 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.666 . @ . . . . . 1 0.910 . . 114.0 . . . . . . . . . . -0.6570 -0.698 -0.657 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.243 . . exonic exonic exonic . . 0.180 @ . . . 0.34 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.118 0.005 . . 37 . 0.198 . . 0.223 . . . 0.255 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.646 . . 0 0 0 0 0 0 . 0.332 . . 0.348 . . . . . . 1 0.632 . . . . . 0.225 . 0.474 . HET 0 rs149301206 . . . . . . . . . . . . 6.743 . . I.76 0.847 . 0.020000 C9JSV9 . . . . . 0.160 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.338 0.338000 . . 0.020000 . . 1.0E-255 0.915 0.316 . 0.043 0.475 . 0.436 . 0.026 0.338 0.542 . . . rs80019510 rs149301206 1 1538 10 1/0 0,245,255 +. 3 75787265 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787265 75787265 Chr3(GRCh37):g.75787265C>G -166 -166 NR_036235.1:n.-166C>G p.? p.? 1 transversion C G C>G 0.984 -0.440 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1509C:p.G503G . . . 0.5233645 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs144538707 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . rs77829652 rs144538707 1 1538 10 1/0 0,255,255 +. 3 75787265 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787265 75787265 Chr3(GRCh37):g.75787265C>G 1509 1509 NM_001128223.2:c.1509G>C p.Gly503= p.Gly503Gly 5 1232 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 transversion G C G>C 0.984 -0.440 G Gly GGG 0.250 G Gly GGC 0.342 503 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1509C:p.G503G . . . 0.5233645 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs144538707 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . rs77829652 rs144538707 1 1538 10 1/0 0,255,255 +rs774073278 3 75787269 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787269 75787269 Chr3(GRCh37):g.75787269G>T -162 -162 NR_036235.1:n.-162G>T p.? p.? 1 rs774073278 yes no Frequency 1 G 0.000000 0 transversion G T G>T 1.000 2.546 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1505A:p.T502K . . . 0.13793103 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.639 . @ . . . . . 1 0.377 . . 116.0 . . . . . . . . . . -0.1066 -0.268 -0.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.245 . . exonic exonic exonic . . 0.185 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.107 0.004 . . 37 . 0.271 . . 0.410 . . . 0.307 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.873 . . 0 0 0 0 0 0 . 0.637 . . 0.457 . . . . . . 1 0.721 . . . . . 0.263 . 0.416 . LowAF 0 . 0.033 0.022 . . . . . . . . . . VII.82 . . 1.IX 0.935 . 0.000000 C9JSV9 . . . . . 0.205 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.365 0.365000 . . 0.000000 . . 1.0E-191 0.991 0.370 . 0.143 0.360 . 0.418 . 0.103 0.365 0.562 0.033 . . . . 1 1538 10 1/0 0,223,255 +rs774073278 3 75787269 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787269 75787269 Chr3(GRCh37):g.75787269G>T 1505 1505 NM_001128223.2:c.1505C>A p.Thr502Lys p.Thr502Lys 5 1228 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs774073278 yes no Frequency 1 G 0.000000 0 transversion C A C>A 1.000 2.546 T Thr ACA 0.280 K Lys AAA 0.425 502 10 3 Opossum -1 -1 -1 0.71 0.33 8.VI 11.III 61 119 78 C0 353.86 0.00 Deleterious 0 IV.32 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1505A:p.T502K . . . 0.13793103 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.639 . @ . . . . . 1 0.377 . . 116.0 . . . . . . . . . . -0.1066 -0.268 -0.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.245 . . exonic exonic exonic . . 0.185 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.107 0.004 . . 37 . 0.271 . . 0.410 . . . 0.307 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.873 . . 0 0 0 0 0 0 . 0.637 . . 0.457 . . . . . . 1 0.721 . . . . . 0.263 . 0.416 . LowAF 0 . 0.033 0.022 . . . . . . . . . . VII.82 . . 1.IX 0.935 . 0.000000 C9JSV9 . . . . . 0.205 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.365 0.365000 . . 0.000000 . . 1.0E-191 0.991 0.370 . 0.143 0.360 . 0.418 . 0.103 0.365 0.562 0.033 . . . . 1 1538 10 1/0 0,223,255 +. 3 75787273 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787273 75787273 Chr3(GRCh37):g.75787273G>T -158 -158 NR_036235.1:n.-158G>T p.? p.? 1 transversion G T G>T 1.000 3.999 196 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1501A:p.H501N . . . 0.14876033 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.616 . @ . . . . . 1 0.356 . . 121.0 . . . . . . . . . . 0.4223 0.194 0.422 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.672 . . exonic exonic exonic . . 0.247 @ . . . 0.39 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.237 0.009 . . 37 . 0.818 . . 0.848 . . . 0.881 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . 0.764 . . 0.832 . . . . . . 1 0.912 . . . . . 0.407 . 0.392 . LowAF 0 . . . . . . . . . . . . . IX.07 . . 1.IX 1.IX . 0.010000 C9JSV9 . . . . . 0.269 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 1.438 1.438000 . . 0.010000 . . 1.0E-196 1.000 0.715 . 0.181 0.279 . 0.652 . 0.294 1.438 0.562 . . . rs77118311 rs77118311 1 1538 10 1/0 0,222,255 +. 3 75787273 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787273 75787273 Chr3(GRCh37):g.75787273G>T 1501 1501 NM_001128223.2:c.1501C>A p.His501Asn p.His501Asn 5 1224 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like transversion C A C>A 1.000 3.999 H His CAC 0.587 N Asn AAC 0.536 501 10 3 Opossum 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 353.86 0.00 Deleterious 0 IV.32 196 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1501A:p.H501N . . . 0.14876033 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.616 . @ . . . . . 1 0.356 . . 121.0 . . . . . . . . . . 0.4223 0.194 0.422 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.672 . . exonic exonic exonic . . 0.247 @ . . . 0.39 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.237 0.009 . . 37 . 0.818 . . 0.848 . . . 0.881 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . 0.764 . . 0.832 . . . . . . 1 0.912 . . . . . 0.407 . 0.392 . LowAF 0 . . . . . . . . . . . . . IX.07 . . 1.IX 1.IX . 0.010000 C9JSV9 . . . . . 0.269 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 1.438 1.438000 . . 0.010000 . . 1.0E-196 1.000 0.715 . 0.181 0.279 . 0.652 . 0.294 1.438 0.562 . . . rs77118311 rs77118311 1 1538 10 1/0 0,222,255 +rs113168258 3 75787276 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787276 75787276 Chr3(GRCh37):g.75787276T>C -155 -155 NR_036235.1:n.-155T>C p.? p.? 1 rs113168258 no no 0 T 0.000000 0 transition T C T>C 0.890 1.820 237 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1498G:p.T500A . . . 0.2631579 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.262 . @ . . . . . 1 0.228 . . 114.0 . . . . . . . . . . -0.6860 -0.784 -0.686 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.247 @ . . . 0.31 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.189 . . 0.225 . . . 0.189 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.383 . . 0 0 0 0 0 0 . 0.292 . . 0.304 . . . . . . 1 0.457 . . . . . 0.285 . 0.405 . HET 0.37 rs113168258 0.022 0.014 . . . . . . . . . . 7.866 . . 1.IX 1.IX . 0.020000 C9JSV9 . . . . . 0.074 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 1.177 1.177000 . . 0.020000 . . 1.0E-237 0.000 0.063 . 0.165 0.162 . 0.182 . 0.115 1.177 0.615 0.022 . . rs113168258 rs113168258 1 1538 10 1/0 0,235,255 +rs113168258 3 75787276 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787276 75787276 Chr3(GRCh37):g.75787276T>C 1498 1498 NM_001128223.2:c.1498A>G p.Thr500Ala p.Thr500Ala 5 1221 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787266 2.27804 0.005337 72.8539 3.23531 0.012335 72.912 Zinc finger, C2H2 Zinc finger, C2H2-like rs113168258 no no 0 T 0.000000 0 transition A G A>G 0.890 1.820 T Thr ACT 0.243 A Ala GCT 0.263 500 10 2 Rabbit 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.12 IV.32 237 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1498G:p.T500A . . . 0.2631579 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.262 . @ . . . . . 1 0.228 . . 114.0 . . . . . . . . . . -0.6860 -0.784 -0.686 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.247 @ . . . 0.31 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.189 . . 0.225 . . . 0.189 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.383 . . 0 0 0 0 0 0 . 0.292 . . 0.304 . . . . . . 1 0.457 . . . . . 0.285 . 0.405 . HET 0.37 rs113168258 0.022 0.014 . . . . . . . . . . 7.866 . . 1.IX 1.IX . 0.020000 C9JSV9 . . . . . 0.074 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 1.177 1.177000 . . 0.020000 . . 1.0E-237 0.000 0.063 . 0.165 0.162 . 0.182 . 0.115 1.177 0.615 0.022 . . rs113168258 rs113168258 1 1538 10 1/0 0,235,255 +rs77311242 3 75787304 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787304 75787304 Chr3(GRCh37):g.75787304A>T -127 -127 NR_036235.1:n.-127A>T p.? p.? 1 rs77311242 no no 0 A 0.000000 0 transversion A T A>T 0.000 -1.247 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1470A:p.R490R . . . 0.5585586 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.4695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77311242 rs77311242 1 1538 10 1/0 0,255,255 +rs77311242 3 75787304 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787304 75787304 Chr3(GRCh37):g.75787304A>T 1470 1470 NM_001128223.2:c.1470T>A p.Arg490= p.Arg490Arg 5 1193 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77311242 no no 0 A 0.000000 0 transversion T A T>A 0.000 -1.247 R Arg CGT 0.082 R Arg CGA 0.110 490 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1470A:p.R490R . . . 0.5585586 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.4695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77311242 rs77311242 1 1538 10 1/0 0,255,255 +rs77389541 3 75787305 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787305 75787305 Chr3(GRCh37):g.75787305C>T -126 -126 NR_036235.1:n.-126C>T p.? p.? 1 rs77389541 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41274 3748 6474 1114 4460 3610 17486 3296 1086 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 74 Exomes transition C T C>T 0.000 -2.619 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1469A:p.R490H . . . 0.5689655 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.086 . . 116.0 . . . . . . . . . . -2.1995 -2.306 -2.200 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.037 @ . . . 0.29 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.006 . . 0.444 . . . 0.196 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 1 0.122 . . . . . 0.148 . 0.287 . HET 0.55 . . . . . . . . . . . . . V.48 . . 2.V -4.1 . 0.610000 C9JSV9 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.090 . -2.702 -2.702000 . . 0.610000 . . 1.0E-255 0.000 0.063 . 0.016 0.767 . 0.009 . 0.002 -2.702 0.542 . . . rs77389541 rs77389541 1 1538 10 1/0 0,255,255 +rs77389541 3 75787305 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787305 75787305 Chr3(GRCh37):g.75787305C>T 1469 1469 NM_001128223.2:c.1469G>A p.Arg490His p.Arg490His 5 1192 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77389541 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41274 3748 6474 1114 4460 3610 17486 3296 1086 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 74 Exomes transition G A G>A 0.000 -2.619 R Arg CGT 0.082 H His CAT 0.413 490 10 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.37 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1469A:p.R490H . . . 0.5689655 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.086 . . 116.0 . . . . . . . . . . -2.1995 -2.306 -2.200 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.037 @ . . . 0.29 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.006 . . 0.444 . . . 0.196 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 1 0.122 . . . . . 0.148 . 0.287 . HET 0.55 . . . . . . . . . . . . . V.48 . . 2.V -4.1 . 0.610000 C9JSV9 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.090 . -2.702 -2.702000 . . 0.610000 . . 1.0E-255 0.000 0.063 . 0.016 0.767 . 0.009 . 0.002 -2.702 0.542 . . . rs77389541 rs77389541 1 1538 10 1/0 0,255,255 +rs148436228 3 75787317 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787317 75787317 Chr3(GRCh37):g.75787317T>A -114 -114 NR_036235.1:n.-114T>A p.? p.? 1 rs148436228 no no 0 T 0.000000 0 transversion T A T>A 0.079 1.093 232 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1457T:p.K486I . . . 0.24793388 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.546 . @ . . . . . 1 0.603 . . 121.0 . . . . . . . . . . 0.0263 -0.292 0.026 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . 0.181 @ . . . 0.31 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.022 0.001 . . 37 . 0.577 . . 0.445 . . . 0.828 0.354 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.954 . . 0 0 0 0 0 0 . 0.657 . . 0.739 . . . . . . 1 0.784 . . . . . 0.162 . 0.506 . HET 0 rs148436228 . 0.014 . . . . . . . . . . V.97 . . 2.VII 0.856 . 0.000000 C9JSV9 . . . . . 0.179 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.282 0.282000 . . 0.000000 . . 1.0E-232 0.989 0.365 . 0.248 0.992 . 0.440 . 0.295 0.282 0.615 . . . rs148436228 rs148436228 1 1538 10 1/0 0,232,255 +rs148436228 3 75787317 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787317 75787317 Chr3(GRCh37):g.75787317T>A 1457 1457 NM_001128223.2:c.1457A>T p.Lys486Ile p.Lys486Ile 5 1180 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs148436228 no no 0 T 0.000000 0 transversion A T A>T 0.079 1.093 K Lys AAA 0.425 I Ile ATA 0.163 486 10 3 Opossum -3 -3 -5 0.33 0 11.III 5.II 119 111 102 C0 353.86 0.00 Deleterious 0 IV.32 232 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1457T:p.K486I . . . 0.24793388 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.546 . @ . . . . . 1 0.603 . . 121.0 . . . . . . . . . . 0.0263 -0.292 0.026 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . 0.181 @ . . . 0.31 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.022 0.001 . . 37 . 0.577 . . 0.445 . . . 0.828 0.354 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.954 . . 0 0 0 0 0 0 . 0.657 . . 0.739 . . . . . . 1 0.784 . . . . . 0.162 . 0.506 . HET 0 rs148436228 . 0.014 . . . . . . . . . . V.97 . . 2.VII 0.856 . 0.000000 C9JSV9 . . . . . 0.179 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.282 0.282000 . . 0.000000 . . 1.0E-232 0.989 0.365 . 0.248 0.992 . 0.440 . 0.295 0.282 0.615 . . . rs148436228 rs148436228 1 1538 10 1/0 0,232,255 +. 3 75787347 TCCC T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75787349 75787351 Chr3(GRCh37):g.75787349_75787351del -82 -80 NR_036235.1:n.-82_-80del p.? p.? 1 rs369031878 no no 0 0.000000 0 CCC 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1424_1426del:p.475_476del . . . 0.5225225 . . . 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369031878 . . . . . . ID\x3dCOSM1425335\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369031878 rs369031878 1 1538 10 1.I 0,12,28 +. 3 75787347 TCCC T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion in-frame exon GRCh37 75787348 75787350 Chr3(GRCh37):g.75787348_75787350del 1424 1426 NM_001128223.2:c.1424_1426del p.Gly475del p.Gly475del 5 1147 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs369031878 no no 0 0.000000 0 GGG 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1424_1426del:p.475_476del . . . 0.5225225 . . . 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369031878 . . . . . . ID\x3dCOSM1425335\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369031878 rs369031878 1 1538 10 1.I 0,12,28 +rs796456113 3 75787351 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787351 75787351 Chr3(GRCh37):g.75787351C>A -80 -80 NR_036235.1:n.-80C>A p.? p.? 1 rs796456113 no no 0 C 0.000000 0 transversion C A C>A 1.000 2.627 201 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1423T:p.G475W . . . 0.2072072 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.664 . @ . . . . . 1 0.402 . . 111.0 . . . . . . . . . . 0.0682 -0.230 0.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.198 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.127 . . 0.035 . . . 0.939 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.957 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.231 . 0.513 . HET 0 . . . . . . . . . . . . . VI.18 . . 2.V I.15 . 0.010000 C9JSV9 . . . . . 0.293 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.477 0.477000 . . 0.010000 . . 1.0E-201 0.912 0.315 . 0.297 0.947 . 0.571 . 0.286 0.477 0.542 . . . . . 1 1538 10 1/0 0,233,255 +rs796456113 3 75787351 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787351 75787351 Chr3(GRCh37):g.75787351C>A 1423 1423 NM_001128223.2:c.1423G>T p.Gly475Trp p.Gly475Trp 5 1146 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs796456113 no no 0 C 0.000000 0 transversion G T G>T 1.000 2.627 G Gly GGG 0.250 W Trp TGG 1.000 475 10 2 Opossum -2 -2 -6 0.74 0.13 9 5.IV 3 170 184 C0 353.86 0.00 Deleterious 0 IV.32 201 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1423T:p.G475W . . . 0.2072072 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.664 . @ . . . . . 1 0.402 . . 111.0 . . . . . . . . . . 0.0682 -0.230 0.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.198 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.127 . . 0.035 . . . 0.939 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.957 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.231 . 0.513 . HET 0 . . . . . . . . . . . . . VI.18 . . 2.V I.15 . 0.010000 C9JSV9 . . . . . 0.293 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.477 0.477000 . . 0.010000 . . 1.0E-201 0.912 0.315 . 0.297 0.947 . 0.571 . 0.286 0.477 0.542 . . . . . 1 1538 10 1/0 0,233,255 +rs77480607 3 75787352 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787352 75787352 Chr3(GRCh37):g.75787352T>A -79 -79 NR_036235.1:n.-79T>A p.? p.? 1 rs77480607 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62734 4158 9606 2992 4804 7674 26058 5898 1544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 61 Exomes transversion T A T>A 1.000 0.044 216 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1422T:p.T474T . . . 0.20183486 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.1814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs77480607 rs77480607 1 1538 10 1/0 0,232,255 +rs77480607 3 75787352 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787352 75787352 Chr3(GRCh37):g.75787352T>A 1422 1422 NM_001128223.2:c.1422A>T p.Thr474= p.Thr474Thr 5 1145 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs77480607 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62734 4158 9606 2992 4804 7674 26058 5898 1544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 61 Exomes transversion A T A>T 1.000 0.044 T Thr ACA 0.280 T Thr ACT 0.243 474 216 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1422T:p.T474T . . . 0.20183486 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.1814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs77480607 rs77480607 1 1538 10 1/0 0,232,255 +. 3 75787352 T TA - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 insertion upstream GRCh37 75787352 75787353 Chr3(GRCh37):g.75787352_75787353insA -79 -78 NR_036235.1:n.-79_-78insA p.? p.? 1 rs372937014 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1421_1422insT:p.T474fs . . . 0.3090909 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372937014 . . . . . . ID\x3dCOSM1425336\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +. 3 75787352 T TA - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 insertion frameshift exon GRCh37 75787352 75787353 Chr3(GRCh37):g.75787352_75787353insA 1421 1422 NM_001128223.2:c.1421_1422insT p.Gly475Argfs*6 p.Gly475Argfs*6 5 1144 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs372937014 no no 0 0.000000 0 T 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1421_1422insT:p.T474fs . . . 0.3090909 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372937014 . . . . . . ID\x3dCOSM1425336\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +rs79406015 3 75787353 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787353 75787353 Chr3(GRCh37):g.75787353G>A -78 -78 NR_036235.1:n.-78G>A p.? p.? 1 rs79406015 no no 0 G 0.000000 0 transition G A G>A 1.000 1.658 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1421T:p.T474I . . . 0.5229358 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.513 . @ . . . . . 1 0.705 . . 109.0 . . . . . . . . . . -0.3804 -0.550 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.136 @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.056 0.003 . . 37 . 0.214 . . 0.166 . . . 0.502 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.432 . . 0.394 . . . . . . 1 0.784 . . . . . 0.181 . 0.439 . HET 0 rs141733687 . . . . . . . . . . . . V.39 . . 2.0 0.0554 . 0.020000 C9JSV9 . . . . . 0.222 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.033 0.033000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.297 0.922 . 0.586 . 0.290 0.033 0.562 . . . rs79406015 rs141733687 1 1538 10 1/0 0,255,255 +rs79406015 3 75787353 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787353 75787353 Chr3(GRCh37):g.75787353G>A 1421 1421 NM_001128223.2:c.1421C>T p.Thr474Ile p.Thr474Ile 5 1144 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs79406015 no no 0 G 0.000000 0 transition C T C>T 1.000 1.658 T Thr ACA 0.280 I Ile ATA 0.163 474 10 2 Opossum -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1421T:p.T474I . . . 0.5229358 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.513 . @ . . . . . 1 0.705 . . 109.0 . . . . . . . . . . -0.3804 -0.550 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.136 @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.056 0.003 . . 37 . 0.214 . . 0.166 . . . 0.502 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.432 . . 0.394 . . . . . . 1 0.784 . . . . . 0.181 . 0.439 . HET 0 rs141733687 . . . . . . . . . . . . V.39 . . 2.0 0.0554 . 0.020000 C9JSV9 . . . . . 0.222 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.033 0.033000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.297 0.922 . 0.586 . 0.290 0.033 0.562 . . . rs79406015 rs141733687 1 1538 10 1/0 0,255,255 +rs73843014 3 75787405 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787405 75787405 Chr3(GRCh37):g.75787405C>T -26 -26 NR_036235.1:n.-26C>T p.? p.? 1 rs73843014 no no 0 C 0.000000 0 transition C T C>T 1.000 1.093 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1369A:p.G457R . . . 0.5810811 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.531 . @ . . . . . 1 0.366 . . 148.0 . . . . . . . . . . -0.3176 -0.559 -0.318 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.015 . . exonic exonic exonic . . 0.098 @ . . . 0.23 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.047 . . 0.286 . . . 0.592 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.906 . . 0 0 0 0 0 0 . 0.541 . . 0.519 . . . . . . 1 0.481 . . . . . 0.191 . 0.363 . HET 0.06 rs73843014 0.359 0.355 . . . . . . . . . . 6.0885 . . 2.VII -0.948 . 0.010000 C9JSV9 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.228 -0.228000 . . 0.010000 . . 1.0E-255 0.239 0.245 . 0.062 0.926 . 0.436 . 0.028 -0.228 0.542 0.36 . rs73843014 rs73843014 rs141106119 1 1538 10 1/0 0,248,255 +rs73843014 3 75787405 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787405 75787405 Chr3(GRCh37):g.75787405C>T 1369 1369 NM_001128223.2:c.1369G>A p.Gly457Arg p.Gly457Arg 5 1092 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs73843014 no no 0 C 0.000000 0 transition G A G>A 1.000 1.093 G Gly GGA 0.246 R Arg AGA 0.205 457 10 2 Opossum -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1369A:p.G457R . . . 0.5810811 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.531 . @ . . . . . 1 0.366 . . 148.0 . . . . . . . . . . -0.3176 -0.559 -0.318 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.015 . . exonic exonic exonic . . 0.098 @ . . . 0.23 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.047 . . 0.286 . . . 0.592 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.906 . . 0 0 0 0 0 0 . 0.541 . . 0.519 . . . . . . 1 0.481 . . . . . 0.191 . 0.363 . HET 0.06 rs73843014 0.359 0.355 . . . . . . . . . . 6.0885 . . 2.VII -0.948 . 0.010000 C9JSV9 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.228 -0.228000 . . 0.010000 . . 1.0E-255 0.239 0.245 . 0.062 0.926 . 0.436 . 0.028 -0.228 0.542 0.36 . rs73843014 rs73843014 rs141106119 1 1538 10 1/0 0,248,255 +rs10442977 3 75787416 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787416 75787416 Chr3(GRCh37):g.75787416C>T -15 -15 NR_036235.1:n.-15C>T p.? p.? 1 rs10442977 no no 0 C 0.000000 0 0.000018 0.000290 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000290 1 1 0 0 0 0 0 0 0 56834 3446 9058 2738 4262 7364 23032 5548 1386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition C T C>T 0.583 4.160 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1358A:p.C453Y . . . 0.375 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.586 . @ . . . . . 1 0.276 . . 152.0 . . . . . . . . . . 0.3475 0.062 0.347 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.259 @ . . . 0.26 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.184 0.007 . . 37 . 0.928 . . 0.842 . . . 0.913 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.992 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 1 0.912 . . . . . 0.429 . 0.435 . HET 0 rs10442977 0.250 0.210 . . . . . . . . . . X.94 . . 2.VII 2.VII . 0.000000 C9JSV9 . . . . . 0.270 . . 2.VII 0.0003 1.76e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . 1.540 1.540000 . . 0.000000 . . 1.0E-255 0.989 0.365 . 0.043 0.954 . 0.678 . 0.033 1.540 0.542 0.25 rs10442977 rs10442977 rs10442977 rs10442977 1 1538 10 1/0 0,233,255 +rs10442977 3 75787416 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787416 75787416 Chr3(GRCh37):g.75787416C>T 1358 1358 NM_001128223.2:c.1358G>A p.Cys453Tyr p.Cys453Tyr 5 1081 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs10442977 no no 0 C 0.000000 0 0.000018 0.000290 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000290 1 1 0 0 0 0 0 0 0 56834 3446 9058 2738 4262 7364 23032 5548 1386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition G A G>A 0.583 4.160 C Cys TGT 0.448 Y Tyr TAT 0.438 453 10 2 Opossum -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1358A:p.C453Y . . . 0.375 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.586 . @ . . . . . 1 0.276 . . 152.0 . . . . . . . . . . 0.3475 0.062 0.347 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.259 @ . . . 0.26 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.184 0.007 . . 37 . 0.928 . . 0.842 . . . 0.913 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.992 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 1 0.912 . . . . . 0.429 . 0.435 . HET 0 rs10442977 0.250 0.210 . . . . . . . . . . X.94 . . 2.VII 2.VII . 0.000000 C9JSV9 . . . . . 0.270 . . 2.VII 0.0003 1.76e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . 1.540 1.540000 . . 0.000000 . . 1.0E-255 0.989 0.365 . 0.043 0.954 . 0.678 . 0.033 1.540 0.542 0.25 rs10442977 rs10442977 rs10442977 rs10442977 1 1538 10 1/0 0,233,255 +rs76082496 3 75787427 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787427 75787427 Chr3(GRCh37):g.75787427T>C -4 -4 NR_036235.1:n.-4T>C p.? p.? 1 rs76082496 no no 0 T 0.000000 0 transition T C T>C 0.906 0.125 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1347G:p.K449K . . . 0.6118421 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 152.0 . . . . . . . . . . 0.0947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76082496 0.359 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.36 . . rs76082496 rs199721002 1 1538 10 1/0 0,248,253 +rs76082496 3 75787427 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787427 75787427 Chr3(GRCh37):g.75787427T>C 1347 1347 NM_001128223.2:c.1347A>G p.Lys449= p.Lys449Lys 5 1070 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs76082496 no no 0 T 0.000000 0 transition A G A>G 0.906 0.125 K Lys AAA 0.425 K Lys AAG 0.575 449 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1347G:p.K449K . . . 0.6118421 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 152.0 . . . . . . . . . . 0.0947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76082496 0.359 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.36 . . rs76082496 rs199721002 1 1538 10 1/0 0,248,253 +. 3 75787458 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution exon GRCh37 75787458 75787458 Chr3(GRCh37):g.75787458G>A 28 28 NR_036235.1:n.28G>A 1 transition G A G>A 0.000 -0.198 199 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1316T:p.T439I . . . 0.15662651 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.121 . @ . . . . . 1 0.031 . . 166.0 . . . . . . . . . . -1.2007 -1.376 -1.201 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.101 @ . . . 0.31 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.052 . . 0.373 . . . 0.211 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.401 . . 0.400 . . . . . . 1 0.010 . . . . . 0.132 . 0.407 . HET 0.57 rs199620349 0.043 0.029 . . . . . . . . . . IV.36 . . I.53 -0.861 . 0.640000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.203 -0.203000 . . 0.640000 . . 1.0E-199 0.000 0.063 . 0.043 0.149 . 0.034 . 0.290 -0.203 -0.219 0.043 rs6686263 rs6686263 rs76333414 rs199620349 1 1538 10 1/0 0,209,255 +. 3 75787458 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787458 75787458 Chr3(GRCh37):g.75787458G>A 1316 1316 NM_001128223.2:c.1316C>T p.Thr439Ile p.Thr439Ile 5 1039 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787447 3.28709 0.03359 80.6648 3.78645 0.064764 84.7667 Zinc finger, C2H2 Zinc finger, C2H2-like transition C T C>T 0.000 -0.198 T Thr ACT 0.243 I Ile ATT 0.356 439 10 2 Opossum -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0 IV.32 199 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1316T:p.T439I . . . 0.15662651 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.121 . @ . . . . . 1 0.031 . . 166.0 . . . . . . . . . . -1.2007 -1.376 -1.201 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.101 @ . . . 0.31 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.052 . . 0.373 . . . 0.211 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.401 . . 0.400 . . . . . . 1 0.010 . . . . . 0.132 . 0.407 . HET 0.57 rs199620349 0.043 0.029 . . . . . . . . . . IV.36 . . I.53 -0.861 . 0.640000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.203 -0.203000 . . 0.640000 . . 1.0E-199 0.000 0.063 . 0.043 0.149 . 0.034 . 0.290 -0.203 -0.219 0.043 rs6686263 rs6686263 rs76333414 rs199620349 1 1538 10 1/0 0,209,255 +rs74861398 3 75787464 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution exon GRCh37 75787464 75787464 Chr3(GRCh37):g.75787464C>T 34 34 NR_036235.1:n.34C>T 1 rs74861398 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30652 2514 5484 920 2898 3172 12318 2544 802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 76 Exomes transition C T C>T 0.000 0.044 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1310A:p.R437K . . . 0.6455696 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.087 . @ . . . . . 1 0.033 . . 158.0 . . . . . . . . . . -1.8271 -1.901 -1.827 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.071 . . exonic exonic exonic . . 0.048 @ . . . 0.24 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.032 . . 0.434 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.200 . . 0.246 . . . . . . 1 0.027 . . . . . 0.076 . 0.296 . HET 0.87 rs74861398 0.370 0.370 . . . . . . . . . . III.52 . . 1.VI -3.2 . 0.930000 C9JSV9 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . -0.943 -0.943000 . . 0.930000 . . 1.0E-255 0.000 0.063 . 0.016 0.158 . 0.007 . 0.004 -0.943 -0.632 0.37 . . rs74861398 rs147751121 1 1538 10 1/0 0,245,247 +rs74861398 3 75787464 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787464 75787464 Chr3(GRCh37):g.75787464C>T 1310 1310 NM_001128223.2:c.1310G>A p.Arg437Lys p.Arg437Lys 5 1033 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs74861398 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30652 2514 5484 920 2898 3172 12318 2544 802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 76 Exomes transition G A G>A 0.000 0.044 R Arg AGG 0.207 K Lys AAG 0.575 437 10 2 Opossum 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1310A:p.R437K . . . 0.6455696 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.087 . @ . . . . . 1 0.033 . . 158.0 . . . . . . . . . . -1.8271 -1.901 -1.827 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.071 . . exonic exonic exonic . . 0.048 @ . . . 0.24 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.032 . . 0.434 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.200 . . 0.246 . . . . . . 1 0.027 . . . . . 0.076 . 0.296 . HET 0.87 rs74861398 0.370 0.370 . . . . . . . . . . III.52 . . 1.VI -3.2 . 0.930000 C9JSV9 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . -0.943 -0.943000 . . 0.930000 . . 1.0E-255 0.000 0.063 . 0.016 0.158 . 0.007 . 0.004 -0.943 -0.632 0.37 . . rs74861398 rs147751121 1 1538 10 1/0 0,245,247 +rs113228636 3 75787476 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution exon GRCh37 75787476 75787476 Chr3(GRCh37):g.75787476C>T 46 46 NR_036235.1:n.46C>T 1 rs113228636 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -1.328 229 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1298A:p.S433N . . . 0.2392638 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.059 . . 163.0 . . . . . . . . . . -1.2802 -1.546 -1.280 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.044 @ . . . 0.19 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.082 . . 0.088 . . . 0.233 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.381 . . 0 0 0 0 0 0 . 0.461 . . 0.438 . . . . . . 1 0.203 . . . . . 0.167 . 0.312 . HET 0.13 rs113228636 0.076 0.094 . . . . . . . . . . V.92 . . I.75 -3.49 . 0.260000 C9JSV9 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -1.573 -1.573000 . . 0.260000 . . 1.0E-229 0.000 0.063 . 0.016 0.344 . 0.004 . 0.028 -1.573 0.542 0.076 rs6671931 rs6671931 rs113228636 rs113228636 1 1538 10 1/0 0,218,255 +rs113228636 3 75787476 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787476 75787476 Chr3(GRCh37):g.75787476C>T 1298 1298 NM_001128223.2:c.1298G>A p.Ser433Asn p.Ser433Asn 5 1021 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs113228636 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 -1.328 S Ser AGC 0.243 N Asn AAC 0.536 433 10 1 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.21 IV.32 229 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1298A:p.S433N . . . 0.2392638 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.059 . . 163.0 . . . . . . . . . . -1.2802 -1.546 -1.280 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.044 @ . . . 0.19 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.082 . . 0.088 . . . 0.233 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.381 . . 0 0 0 0 0 0 . 0.461 . . 0.438 . . . . . . 1 0.203 . . . . . 0.167 . 0.312 . HET 0.13 rs113228636 0.076 0.094 . . . . . . . . . . V.92 . . I.75 -3.49 . 0.260000 C9JSV9 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -1.573 -1.573000 . . 0.260000 . . 1.0E-229 0.000 0.063 . 0.016 0.344 . 0.004 . 0.028 -1.573 0.542 0.076 rs6671931 rs6671931 rs113228636 rs113228636 1 1538 10 1/0 0,218,255 +rs79870536 3 75787516 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787516 75787516 Chr3(GRCh37):g.75787516C>G *2 *2 NR_036235.1:n.*2C>G p.? p.? 1 rs79870536 no no 0 C 0.000000 0 transversion C G C>G 0.921 2.546 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1258C:p.E420Q . . . 0.625 . . @ 95 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.468 . @ . . . . . 1 0.371 . . 152.0 . . . . . . . . . . -0.3530 -0.540 -0.353 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.258 . . exonic exonic exonic . . 0.186 @ . . . 0.24 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.081 0.003 . . 37 . 0.282 . . 0.136 . . . 0.627 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.525 . . 0.495 . . . . . . 2 0.491 . . . . . 0.305 . 0.515 . HET 0.13 rs79870536 0.359 0.355 . . . . . . . . . . VIII.81 . . I.87 0.939 . 0.010000 C9JSV9 . . . . . 0.255 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.377 0.377000 . . 0.010000 . . 1.0E-255 0.997 0.399 . 0.043 0.414 . 0.569 . 0.105 0.377 0.542 0.36 . . rs79870536 rs200086689 1 1538 10 1/0 0,244,246 +rs79870536 3 75787516 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787516 75787516 Chr3(GRCh37):g.75787516C>G 1258 1258 NM_001128223.2:c.1258G>C p.Glu420Gln p.Glu420Gln 5 981 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs79870536 no no 0 C 0.000000 0 transversion G C G>C 0.921 2.546 E Glu GAA 0.417 Q Gln CAA 0.256 420 10 2 Opossum 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1258C:p.E420Q . . . 0.625 . . @ 95 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.468 . @ . . . . . 1 0.371 . . 152.0 . . . . . . . . . . -0.3530 -0.540 -0.353 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.258 . . exonic exonic exonic . . 0.186 @ . . . 0.24 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.081 0.003 . . 37 . 0.282 . . 0.136 . . . 0.627 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.525 . . 0.495 . . . . . . 2 0.491 . . . . . 0.305 . 0.515 . HET 0.13 rs79870536 0.359 0.355 . . . . . . . . . . VIII.81 . . I.87 0.939 . 0.010000 C9JSV9 . . . . . 0.255 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.377 0.377000 . . 0.010000 . . 1.0E-255 0.997 0.399 . 0.043 0.414 . 0.569 . 0.105 0.377 0.542 0.36 . . rs79870536 rs200086689 1 1538 10 1/0 0,244,246 +. 3 75787519 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787519 75787519 Chr3(GRCh37):g.75787519C>A *5 *5 NR_036235.1:n.*5C>A p.? p.? 1 rs796962069 no no 0 0.000000 0 transversion C A C>A 0.669 1.658 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1255T:p.G419W . . . 0.615894 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.654 . @ . . . . . 1 0.421 . . 151.0 . . . . . . . . . . -0.0448 -0.423 -0.045 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.187 @ . . . 0.25 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.142 0.005 . . 37 . 0.142 . . 0.037 . . . 0.924 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.949 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 2 0.912 . . . . . 0.219 . 0.511 . HET 0 rs200805142 . . . . . . . . . . . . VI.86 . . I.87 0.967 . 0.000000 C9JSV9 . . . . . 0.130 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.392 0.392000 . . 0.000000 . . 1.0E-255 0.021 0.196 . 0.043 0.393 . 0.425 . 0.287 0.392 0.542 . . . rs76144260 rs200805142 1 1538 10 1/0 0,245,249 +. 3 75787519 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787519 75787519 Chr3(GRCh37):g.75787519C>A 1255 1255 NM_001128223.2:c.1255G>T p.Gly419Trp p.Gly419Trp 5 978 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs796962069 no no 0 0.000000 0 transversion G T G>T 0.669 1.658 G Gly GGG 0.250 W Trp TGG 1.000 419 10 2 Opossum -2 -2 -6 0.74 0.13 9 5.IV 3 170 184 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1255T:p.G419W . . . 0.615894 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.654 . @ . . . . . 1 0.421 . . 151.0 . . . . . . . . . . -0.0448 -0.423 -0.045 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.187 @ . . . 0.25 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.142 0.005 . . 37 . 0.142 . . 0.037 . . . 0.924 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.949 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 2 0.912 . . . . . 0.219 . 0.511 . HET 0 rs200805142 . . . . . . . . . . . . VI.86 . . I.87 0.967 . 0.000000 C9JSV9 . . . . . 0.130 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.392 0.392000 . . 0.000000 . . 1.0E-255 0.021 0.196 . 0.043 0.393 . 0.425 . 0.287 0.392 0.542 . . . rs76144260 rs200805142 1 1538 10 1/0 0,245,249 +rs28632074 3 75787637 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787637 75787637 Chr3(GRCh37):g.75787637C>T *123 *123 NR_036235.1:n.*123C>T p.? p.? 1 rs28632074 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.360 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1137A:p.K379K . . . 0.7352941 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs145802847 0.261 0.232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs28632074 rs28632074 rs28632074 rs145802847 1 1538 10 1/0 0,252,250 +rs28632074 3 75787637 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787637 75787637 Chr3(GRCh37):g.75787637C>T 1137 1137 NM_001128223.2:c.1137G>A p.Lys379= p.Lys379Lys 5 860 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs28632074 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 -0.360 K Lys AAG 0.575 K Lys AAA 0.425 379 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1137A:p.K379K . . . 0.7352941 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs145802847 0.261 0.232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs28632074 rs28632074 rs28632074 rs145802847 1 1538 10 1/0 0,252,250 +. 3 75787645 GAA G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion downstream GRCh37 75787648 75787649 Chr3(GRCh37):g.75787648_75787649del *134 *135 NR_036235.1:n.*134_*135del p.? p.? 1 rs67579270 no no 0 0.000000 0 AA 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1127_1128del:p.F376fs . . . 0.73015875 . . . 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141065192 0.239 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 . rs67579270 rs67579270 rs141065192 1 1538 10 1.I 0,10,14 +. 3 75787645 GAA G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion frameshift exon GRCh37 75787646 75787647 Chr3(GRCh37):g.75787646_75787647del 1127 1128 NM_001128223.2:c.1127_1128del p.Phe376Serfs*3 p.Phe376Serfs*3 5 850 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs67579270 no no 0 0.000000 0 TT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1127_1128del:p.F376fs . . . 0.73015875 . . . 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141065192 0.239 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 . rs67579270 rs67579270 rs141065192 1 1538 10 1.I 0,10,14 +rs74620322 3 75787679 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787679 75787679 Chr3(GRCh37):g.75787679T>C *165 *165 NR_036235.1:n.*165T>C p.? p.? 1 rs74620322 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.992 0.286 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1095G:p.K365K . . . 0.68907565 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.0876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs74620322 0.424 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs74620322 rs74620322 1 1538 10 1/0 0,255,255 +rs74620322 3 75787679 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787679 75787679 Chr3(GRCh37):g.75787679T>C 1095 1095 NM_001128223.2:c.1095A>G p.Lys365= p.Lys365Lys 5 818 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs74620322 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.992 0.286 K Lys AAA 0.425 K Lys AAG 0.575 365 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1095G:p.K365K . . . 0.68907565 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.0876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs74620322 0.424 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs74620322 rs74620322 1 1538 10 1/0 0,255,255 +rs77688099 3 75787688 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787688 75787688 Chr3(GRCh37):g.75787688T>A *174 *174 NR_036235.1:n.*174T>A p.? p.? 1 rs77688099 yes no Frequency 1 T 0.000000 0 transversion T A T>A 0.984 0.044 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1086T:p.T362T . . . 0.70731705 . . @ 87 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . -0.0559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs77688099 0.424 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs77688099 rs113301073 1 1538 10 1/0 0,255,255 +rs77688099 3 75787688 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787688 75787688 Chr3(GRCh37):g.75787688T>A 1086 1086 NM_001128223.2:c.1086A>T p.Thr362= p.Thr362Thr 5 809 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs77688099 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.984 0.044 T Thr ACA 0.280 T Thr ACT 0.243 362 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1086T:p.T362T . . . 0.70731705 . . @ 87 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . -0.0559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs77688099 0.424 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs77688099 rs113301073 1 1538 10 1/0 0,255,255 +rs370446336 3 75787712 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787712 75787712 Chr3(GRCh37):g.75787712G>A *198 *198 NR_036235.1:n.*198G>A p.? p.? 1 rs370446336 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.521 209 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1062T:p.L354L . . . 0.18354431 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 158.0 . . . . . . . . . . -0.2691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs370446336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs1686398 rs1686398 rs370446336 rs370446336 1 1538 10 1/0 0,214,255 +rs370446336 3 75787712 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787712 75787712 Chr3(GRCh37):g.75787712G>A 1062 1062 NM_001128223.2:c.1062C>T p.Leu354= p.Leu354Leu 5 785 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs370446336 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.521 L Leu CTC 0.197 L Leu CTT 0.129 354 209 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1062T:p.L354L . . . 0.18354431 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 158.0 . . . . . . . . . . -0.2691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs370446336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs1686398 rs1686398 rs370446336 rs370446336 1 1538 10 1/0 0,214,255 +rs186706183 3 75787725 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787725 75787725 Chr3(GRCh37):g.75787725C>T *211 *211 NR_036235.1:n.*211C>T p.? p.? 1 rs186706183 yes no Frequency/1000G 2 C 0.000000 0 0.001051 0.010533 0.000673 0.000384 0.000000 0.000000 0.000000 0.000000 0.000000 0.010533 57 51 5 1 0 0 0 0 0 54248 4842 7432 2604 2474 6350 22568 6750 1228 0.000295 0.003304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 8 0 0 0 0 0 0 0 41 35 5 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 218 PASS 0.04 0.01 0.0028 . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1049A:p.R350H . . . 0.20779221 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.141 . @ . . . . . 1 0.087 . . 154.0 . . . . . . . . . . -1.1160 -1.340 -1.116 c . . . . . 4.396e-03 . . . 0.0629 0.0066 0 0 0 0 0 0 0.0492 0.0048 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.156 . . exonic exonic exonic . . 0.060 @ . . . 0.28 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.018 . . 0.307 . . . 0.311 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.554 . . 0.404 . . . . . . 2 0.071 . . . . . 0.198 . 0.336 . HET 0.6 rs186706183 0.011 0.007 . . . . . 0.009157509157509158 0.03861788617886179 0.0027624309392265192 0.0 0.0 VI.81 0.089362 . I.58 -2.49 . 0.450000 C9JSV9 . . . . . 0.013 . . . 0.0190 0.0011 0.0007 0 0 0 0 0 0 0.0017 0.0006 0 0.0106 0 0 0 0 . . 0.553 . -0.610 -0.610000 . . 0.450000 . . 1.0E-218 0.000 0.063 . 0.016 0.032 . 0.007 . 0.015 -0.610 -0.269 0.04 . . rs186706183 rs186706183 1 1538 10 1/0 0,217,255 +rs186706183 3 75787725 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787725 75787725 Chr3(GRCh37):g.75787725C>T 1049 1049 NM_001128223.2:c.1049G>A p.Arg350His p.Arg350His 5 772 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs186706183 yes no Frequency/1000G 2 C 0.000000 0 0.001051 0.010533 0.000673 0.000384 0.000000 0.000000 0.000000 0.000000 0.000000 0.010533 57 51 5 1 0 0 0 0 0 54248 4842 7432 2604 2474 6350 22568 6750 1228 0.000295 0.003304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 8 0 0 0 0 0 0 0 41 35 5 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 R Arg CGT 0.082 H His CAT 0.413 350 10 3 Northern white-cheeked gibbon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 242.09 0.00 Tolerated 0.2 III.91 218 PASS 0.04 0.01 0.0028 . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1049A:p.R350H . . . 0.20779221 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.141 . @ . . . . . 1 0.087 . . 154.0 . . . . . . . . . . -1.1160 -1.340 -1.116 c . . . . . 4.396e-03 . . . 0.0629 0.0066 0 0 0 0 0 0 0.0492 0.0048 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.156 . . exonic exonic exonic . . 0.060 @ . . . 0.28 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.018 . . 0.307 . . . 0.311 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.554 . . 0.404 . . . . . . 2 0.071 . . . . . 0.198 . 0.336 . HET 0.6 rs186706183 0.011 0.007 . . . . . 0.009157509157509158 0.03861788617886179 0.0027624309392265192 0.0 0.0 VI.81 0.089362 . I.58 -2.49 . 0.450000 C9JSV9 . . . . . 0.013 . . . 0.0190 0.0011 0.0007 0 0 0 0 0 0 0.0017 0.0006 0 0.0106 0 0 0 0 . . 0.553 . -0.610 -0.610000 . . 0.450000 . . 1.0E-218 0.000 0.063 . 0.016 0.032 . 0.007 . 0.015 -0.610 -0.269 0.04 . . rs186706183 rs186706183 1 1538 10 1/0 0,217,255 +rs1962893 3 75787726 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787726 75787726 Chr3(GRCh37):g.75787726G>A *212 *212 NR_036235.1:n.*212G>A p.? p.? 1 rs1962893 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.000022 0.000000 0.000000 0.000000 0.000000 0.000159 0.000000 0.000000 0.000000 0.000159 1 0 0 0 0 1 0 0 0 45132 2504 7102 2500 2144 6308 18126 5484 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 82 Exomes transition G A G>A 0.000 1.174 255 PASS 0.09 0.1 0.1 0.1 0.1 . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1048T:p.R350C . . . 0.6708861 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.227 . . 158.0 . . . . . . . . . . -0.3897 -0.651 -0.390 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.224 @ . . . 0.38 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.006 . . 0.097 . . . 0.458 0.189 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.689 . . 0.519 . . . . . . 2 0.208 . . . . . 0.147 . 0.484 . HET 0.2 rs1962893 0.772 0.783 . . . . . 0.09661172161172162 0.08739837398373984 0.09944751381215469 0.10139860139860139 0.09762532981530343 V.61 . . I.58 I.58 . 0.180000 C9JSV9 . . . . . 0.078 . . . 0 2.216e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.553 . 1.248 1.248000 . . 0.180000 . . 1.0E-255 0.000 0.063 . 0.016 0.041 . 0.003 . 0.067 1.248 0.562 0.77 rs1962893 rs1962893 rs1962893 rs143705658 1 1538 10 1/0 0,248,250 +rs1962893 3 75787726 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787726 75787726 Chr3(GRCh37):g.75787726G>A 1048 1048 NM_001128223.2:c.1048C>T p.Arg350Cys p.Arg350Cys 5 771 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs1962893 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.000022 0.000000 0.000000 0.000000 0.000000 0.000159 0.000000 0.000000 0.000000 0.000159 1 0 0 0 0 1 0 0 0 45132 2504 7102 2500 2144 6308 18126 5484 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 82 Exomes transition C T C>T 0.000 1.174 R Arg CGT 0.082 C Cys TGT 0.448 350 10 3 Northern white-cheeked gibbon -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 242.09 79.30 Deleterious 0.01 III.91 255 PASS 0.09 0.1 0.1 0.1 0.1 . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1048T:p.R350C . . . 0.6708861 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.227 . . 158.0 . . . . . . . . . . -0.3897 -0.651 -0.390 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.224 @ . . . 0.38 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.006 . . 0.097 . . . 0.458 0.189 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.689 . . 0.519 . . . . . . 2 0.208 . . . . . 0.147 . 0.484 . HET 0.2 rs1962893 0.772 0.783 . . . . . 0.09661172161172162 0.08739837398373984 0.09944751381215469 0.10139860139860139 0.09762532981530343 V.61 . . I.58 I.58 . 0.180000 C9JSV9 . . . . . 0.078 . . . 0 2.216e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.553 . 1.248 1.248000 . . 0.180000 . . 1.0E-255 0.000 0.063 . 0.016 0.041 . 0.003 . 0.067 1.248 0.562 0.77 rs1962893 rs1962893 rs1962893 rs143705658 1 1538 10 1/0 0,248,250 +rs373583704 3 75787729 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787729 75787729 Chr3(GRCh37):g.75787729G>A *215 *215 NR_036235.1:n.*215G>A p.? p.? 1 rs373583704 no no 0 G 0.000000 0 0.000023 0.000000 0.000000 0.000000 0.000000 0.000162 0.000000 0.000000 0.000000 0.000162 1 0 0 0 0 1 0 0 0 43940 2416 6872 2472 2044 6162 17626 5414 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transition G A G>A 0.000 -0.602 216 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1045T:p.R349C . . . 0.20245399 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.159 . @ . . . . . 1 0.096 . . 163.0 . . . . . . . . . . -1.2688 -1.416 -1.269 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.127 . . 0.328 . . . 0.291 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.156 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 2 0.403 . . . . . 0.047 . 0.447 . HET 0.11 rs373583704 0.011 0.007 . . . . . . . . . . II.24 . . I.58 -2.38 . 0.090000 C9JSV9 . . . . . 0.037 . . . 0 2.276e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.553 . -0.622 -0.622000 . . 0.090000 . . 1.0E-216 0.000 0.063 . 0.016 0.087 . 0.073 . 0.004 -0.622 -0.617 0.011 . . rs373583704 rs373583704 1 1538 10 1/0 0,214,255 +rs373583704 3 75787729 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787729 75787729 Chr3(GRCh37):g.75787729G>A 1045 1045 NM_001128223.2:c.1045C>T p.Arg349Cys p.Arg349Cys 5 768 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs373583704 no no 0 G 0.000000 0 0.000023 0.000000 0.000000 0.000000 0.000000 0.000162 0.000000 0.000000 0.000000 0.000162 1 0 0 0 0 1 0 0 0 43940 2416 6872 2472 2044 6162 17626 5414 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transition C T C>T 0.000 -0.602 R Arg CGC 0.190 C Cys TGC 0.552 349 10 2 Northern white-cheeked gibbon -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 262.28 0.00 Tolerated 0.16 III.91 216 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1045T:p.R349C . . . 0.20245399 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.159 . @ . . . . . 1 0.096 . . 163.0 . . . . . . . . . . -1.2688 -1.416 -1.269 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.127 . . 0.328 . . . 0.291 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.156 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 2 0.403 . . . . . 0.047 . 0.447 . HET 0.11 rs373583704 0.011 0.007 . . . . . . . . . . II.24 . . I.58 -2.38 . 0.090000 C9JSV9 . . . . . 0.037 . . . 0 2.276e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.553 . -0.622 -0.622000 . . 0.090000 . . 1.0E-216 0.000 0.063 . 0.016 0.087 . 0.073 . 0.004 -0.622 -0.617 0.011 . . rs373583704 rs373583704 1 1538 10 1/0 0,214,255 +rs74776730 3 75787732 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787732 75787732 Chr3(GRCh37):g.75787732A>C *218 *218 NR_036235.1:n.*218A>C p.? p.? 1 rs74776730 yes no Frequency 1 A 0.000000 0 transversion A C A>C 0.339 3.192 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1042G:p.F348V . . . 0.497006 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.325 . @ . . . . . 1 0.156 . . 167.0 . . . . . . . . . . 0.1980 -0.099 0.198 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . 0.224 @ . . . 0.31 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.099 0.004 . . 37 . 0.646 . . 0.534 . . . 0.908 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.919 . . 0 0 0 0 0 0 . 0.571 . . 0.616 . . . . . . 2 0.912 . . . . . 0.254 . 0.448 . HET 0 rs74776730 0.261 0.239 . . . . . . . . . . VII.31 . . I.58 I.58 . 0.000000 C9JSV9 . . . . . 0.300 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 1.025 1.025000 . . 0.000000 . . 1.0E-255 0.959 0.333 . 0.043 0.248 . 0.491 . 0.281 1.025 0.649 0.26 rs2209202 rs2209202 rs74776730 rs74776730 1 1538 10 1/0 0,237,255 +rs74776730 3 75787732 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787732 75787732 Chr3(GRCh37):g.75787732A>C 1042 1042 NM_001128223.2:c.1042T>G p.Phe348Val p.Phe348Val 5 765 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs74776730 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.339 3.192 F Phe TTT 0.454 V Val GTT 0.178 348 10 9 Opossum 0 -1 -2 0 0 5.II 5.IX 132 84 50 C0 245.62 XI.33 Deleterious 0 III.91 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1042G:p.F348V . . . 0.497006 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.325 . @ . . . . . 1 0.156 . . 167.0 . . . . . . . . . . 0.1980 -0.099 0.198 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . 0.224 @ . . . 0.31 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.099 0.004 . . 37 . 0.646 . . 0.534 . . . 0.908 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.919 . . 0 0 0 0 0 0 . 0.571 . . 0.616 . . . . . . 2 0.912 . . . . . 0.254 . 0.448 . HET 0 rs74776730 0.261 0.239 . . . . . . . . . . VII.31 . . I.58 I.58 . 0.000000 C9JSV9 . . . . . 0.300 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 1.025 1.025000 . . 0.000000 . . 1.0E-255 0.959 0.333 . 0.043 0.248 . 0.491 . 0.281 1.025 0.649 0.26 rs2209202 rs2209202 rs74776730 rs74776730 1 1538 10 1/0 0,237,255 +rs74873974 3 75787770 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787770 75787770 Chr3(GRCh37):g.75787770C>T *256 *256 NR_036235.1:n.*256C>T p.? p.? 1 rs74873974 yes no Frequency 1 C 0.000000 0 transition C T C>T 1.000 2.465 188 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1004A:p.G335E . . . 0.12935324 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.629 . @ . . . . . 1 0.300 . . 201.0 . . . . . . . . . . -0.3490 -0.623 -0.349 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.181 @ . . . 0.22 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.098 0.004 . . 37 . 0.353 . . 0.144 . . . 0.311 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.912 . . 0 0 0 0 0 0 . 0.657 . . 0.715 . . . . . . 2 0.721 . . . . . 0.210 . 0.463 . LowAF 0.01 rs74873974 0.054 0.043 . . . . . . . . . . 6.458 . . I.78 0.859 . 0.050000 C9JSV9 . . . . . 0.132 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.332 0.332000 . . 0.050000 . . 1.0E-188 0.434 0.262 . 0.343 0.758 . 0.376 . 0.276 0.332 0.542 0.054 rs2209201 rs2209201 rs74873974 rs74873974 1 1538 10 1/0 0,199,255 +rs74873974 3 75787770 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787770 75787770 Chr3(GRCh37):g.75787770C>T 1004 1004 NM_001128223.2:c.1004G>A p.Gly335Glu p.Gly335Glu 5 727 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs74873974 yes no Frequency 1 C 0.000000 0 transition G A G>A 1.000 2.465 G Gly GGG 0.250 E Glu GAG 0.583 335 10 8 Opossum -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 109.55 54.82 Deleterious 0.02 III.91 188 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1004A:p.G335E . . . 0.12935324 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.629 . @ . . . . . 1 0.300 . . 201.0 . . . . . . . . . . -0.3490 -0.623 -0.349 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.181 @ . . . 0.22 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.098 0.004 . . 37 . 0.353 . . 0.144 . . . 0.311 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.912 . . 0 0 0 0 0 0 . 0.657 . . 0.715 . . . . . . 2 0.721 . . . . . 0.210 . 0.463 . LowAF 0.01 rs74873974 0.054 0.043 . . . . . . . . . . 6.458 . . I.78 0.859 . 0.050000 C9JSV9 . . . . . 0.132 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.332 0.332000 . . 0.050000 . . 1.0E-188 0.434 0.262 . 0.343 0.758 . 0.376 . 0.276 0.332 0.542 0.054 rs2209201 rs2209201 rs74873974 rs74873974 1 1538 10 1/0 0,199,255 +rs200891949 3 75787801 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787801 75787801 Chr3(GRCh37):g.75787801T>C *287 *287 NR_036235.1:n.*287T>C p.? p.? 1 rs200891949 no no 0 T 0.000000 0 transition T C T>C 0.000 0.044 250 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A973G:p.S325G . . . 0.30555555 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.092 . . 216.0 . . . . . . . . . . -1.1047 -1.293 -1.105 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.054 @ . . . 0.24 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.116 . . 0.377 . . . 0.305 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.321 . . 0.371 . . . . . . 2 0.052 . . . . . 0.050 . 0.348 . HET 0.63 rs200891949 . . . . . . . . . . . . II.23 . . I.59 -2.8 . 0.470000 C9JSV9 . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.585 -0.585000 . . 0.470000 . . 1.0E-250 0.000 0.063 . 0.043 0.057 . 0.025 . 0.278 -0.585 -0.267 . . . rs200891949 rs200891949 1 1538 10 1/0 0,211,255 +rs200891949 3 75787801 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787801 75787801 Chr3(GRCh37):g.75787801T>C 973 973 NM_001128223.2:c.973A>G p.Ser325Gly p.Ser325Gly 5 696 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs200891949 no no 0 T 0.000000 0 transition A G A>G 0.000 0.044 S Ser AGC 0.243 G Gly GGC 0.342 325 10 4 White-tuffed-ear marmoset 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 216.75 0.00 Tolerated 0.53 III.91 250 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A973G:p.S325G . . . 0.30555555 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.092 . . 216.0 . . . . . . . . . . -1.1047 -1.293 -1.105 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.054 @ . . . 0.24 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.116 . . 0.377 . . . 0.305 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.321 . . 0.371 . . . . . . 2 0.052 . . . . . 0.050 . 0.348 . HET 0.63 rs200891949 . . . . . . . . . . . . II.23 . . I.59 -2.8 . 0.470000 C9JSV9 . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.585 -0.585000 . . 0.470000 . . 1.0E-250 0.000 0.063 . 0.043 0.057 . 0.025 . 0.278 -0.585 -0.267 . . . rs200891949 rs200891949 1 1538 10 1/0 0,211,255 +rs201430954 3 75787802 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787802 75787802 Chr3(GRCh37):g.75787802G>A *288 *288 NR_036235.1:n.*288G>A p.? p.? 1 rs201430954 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.682 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C972T:p.S324S . . . 0.3287037 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . -0.2942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201430954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201430954 rs201430954 1 1538 10 1/0 0,213,255 +rs201430954 3 75787802 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787802 75787802 Chr3(GRCh37):g.75787802G>A 972 972 NM_001128223.2:c.972C>T p.Ser324= p.Ser324Ser 5 695 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs201430954 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.682 S Ser TCC 0.220 S Ser TCT 0.185 324 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C972T:p.S324S . . . 0.3287037 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . -0.2942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201430954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201430954 rs201430954 1 1538 10 1/0 0,213,255 +rs77430797 3 75787829 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787829 75787829 Chr3(GRCh37):g.75787829C>G *315 *315 NR_036235.1:n.*315C>G p.? p.? 1 rs77430797 no no 0 C 0.000000 0 transversion C G C>G 0.008 -1.086 185 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G945C:p.W315C . . . 0.123893805 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.229 . @ . . . . . 1 0.042 . . 226.0 . . . . . . . . . . -1.2238 -1.421 -1.224 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.072 @ . . . 0.16 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.096 0.004 . . 37 . 0.077 . . 0.224 . . . 0.124 0.504 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.144 . . 0 0 0 0 0 0 . 0.426 . . 0.267 . . . . . . 2 0.586 . . . . . 0.163 . 0.465 . LowAF 0.01 rs150361978 0.011 0.007 . . . . . . . . . . V.59 . . I.26 -1.89 . 0.010000 C9JSV9 . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.529 -0.529000 . . 0.010000 . . 1.0E-185 0.000 0.063 . 0.016 0.058 . 0.002 . 0.015 -0.529 -0.609 0.011 rs10449518 rs10449518 rs77430797 rs150361978 1 1538 10 1/0 0,193,255 +rs77430797 3 75787829 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787829 75787829 Chr3(GRCh37):g.75787829C>G 945 945 NM_001128223.2:c.945G>C p.Trp315Cys p.Trp315Cys 5 668 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787811 1.79492 0.000371 63.0095 2.60013 0.000601 63.0095 Zinc finger, C2H2 Zinc finger, C2H2-like rs77430797 no no 0 C 0.000000 0 transversion G C G>C 0.008 -1.086 W Trp TGG 1.000 C Cys TGC 0.552 315 10 4 White-tuffed-ear marmoset -5 -2 -5 0.13 II.75 5.IV 5.V 170 55 215 C15 190.51 125.67 Tolerated 0.1 III.91 185 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G945C:p.W315C . . . 0.123893805 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.229 . @ . . . . . 1 0.042 . . 226.0 . . . . . . . . . . -1.2238 -1.421 -1.224 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.072 @ . . . 0.16 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.096 0.004 . . 37 . 0.077 . . 0.224 . . . 0.124 0.504 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.144 . . 0 0 0 0 0 0 . 0.426 . . 0.267 . . . . . . 2 0.586 . . . . . 0.163 . 0.465 . LowAF 0.01 rs150361978 0.011 0.007 . . . . . . . . . . V.59 . . I.26 -1.89 . 0.010000 C9JSV9 . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.529 -0.529000 . . 0.010000 . . 1.0E-185 0.000 0.063 . 0.016 0.058 . 0.002 . 0.015 -0.529 -0.609 0.011 rs10449518 rs10449518 rs77430797 rs150361978 1 1538 10 1/0 0,193,255 +rs75388892 3 75787927 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787927 75787927 Chr3(GRCh37):g.75787927A>G *413 *413 NR_036235.1:n.*413A>G p.? p.? 1 rs75388892 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.433 1.820 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T847C:p.Y283H . . . 0.8034682 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.519 . . 173.0 . . . . . . . . . . -0.9119 -1.010 -0.912 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.155 @ . . . 0.19 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.162 . . 0.359 . . . 0.299 0.394 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.606 . . 0 0 0 0 0 0 . 0.235 . . 0.326 . . . . . . 2 0.274 . . . . . 0.121 . 0.376 . HOM 0.34 rs75388892 0.478 0.486 . . . . . . . . . . IV.68 . . 1.VI 0.407 . 0.040000 C9JSV9 . . . . . 0.129 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.145 0.145000 . . 0.040000 . . 1.0E-255 0.061 0.216 . 0.192 0.976 . 0.411 . 0.273 0.145 0.649 0.48 rs4079269 rs4079269 rs75388892 rs140371017 1 1538 10 1/0 0,248,245 +rs75388892 3 75787927 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787927 75787927 Chr3(GRCh37):g.75787927A>G 847 847 NM_001128223.2:c.847T>C p.Tyr283His p.Tyr283His 5 570 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs75388892 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.433 1.820 Y Tyr TAT 0.438 H His CAT 0.413 283 10 5 Cow 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 230.81 0.00 Tolerated 0.44 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T847C:p.Y283H . . . 0.8034682 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.519 . . 173.0 . . . . . . . . . . -0.9119 -1.010 -0.912 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.155 @ . . . 0.19 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.162 . . 0.359 . . . 0.299 0.394 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.606 . . 0 0 0 0 0 0 . 0.235 . . 0.326 . . . . . . 2 0.274 . . . . . 0.121 . 0.376 . HOM 0.34 rs75388892 0.478 0.486 . . . . . . . . . . IV.68 . . 1.VI 0.407 . 0.040000 C9JSV9 . . . . . 0.129 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.145 0.145000 . . 0.040000 . . 1.0E-255 0.061 0.216 . 0.192 0.976 . 0.411 . 0.273 0.145 0.649 0.48 rs4079269 rs4079269 rs75388892 rs140371017 1 1538 10 1/0 0,248,245 +rs76105745 3 75787949 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787949 75787949 Chr3(GRCh37):g.75787949C>T *435 *435 NR_036235.1:n.*435C>T p.? p.? 1 rs76105745 yes no Frequency 1 C 0.000000 0 0.002267 0.002205 0.004876 0.001792 0.002289 0.001079 0.002193 0.000757 0.000984 0.004876 101 9 31 4 5 6 42 3 1 44554 4082 6358 2232 2184 5562 19156 3964 1016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 9 31 4 5 6 42 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.417 -0.279 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G825A:p.Q275Q . . . 0.79310346 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 174.0 . . . . . . . . . . -0.5384 . . . . . . . . 5.261e-04 . . . 0 0.0004 0 0 0 0 0 0.0010 0 0.0006 0 0 0 0 0 0.0010 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs76105745 0.500 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0025 0.0049 0.0019 0.0026 0.0011 0.0024 0.0012 0.0011 0.0020 0.0012 0.0049 0 0 0 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs4079268 rs4079268 rs76105745 rs148003742 1 1538 10 1/0 0,247,244 +rs76105745 3 75787949 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787949 75787949 Chr3(GRCh37):g.75787949C>T 825 825 NM_001128223.2:c.825G>A p.Gln275= p.Gln275Gln 5 548 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787951 0.000124 66.7759 0.0918865 0.0002 66.7759 rs76105745 yes no Frequency 1 C 0.000000 0 0.002267 0.002205 0.004876 0.001792 0.002289 0.001079 0.002193 0.000757 0.000984 0.004876 101 9 31 4 5 6 42 3 1 44554 4082 6358 2232 2184 5562 19156 3964 1016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 9 31 4 5 6 42 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.417 -0.279 Q Gln CAG 0.744 Q Gln CAA 0.256 275 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G825A:p.Q275Q . . . 0.79310346 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 174.0 . . . . . . . . . . -0.5384 . . . . . . . . 5.261e-04 . . . 0 0.0004 0 0 0 0 0 0.0010 0 0.0006 0 0 0 0 0 0.0010 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs76105745 0.500 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0025 0.0049 0.0019 0.0026 0.0011 0.0024 0.0012 0.0011 0.0020 0.0012 0.0049 0 0 0 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs4079268 rs4079268 rs76105745 rs148003742 1 1538 10 1/0 0,247,244 +rs76334908 3 75787961 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787961 75787961 Chr3(GRCh37):g.75787961A>G *447 *447 NR_036235.1:n.*447A>G p.? p.? 1 rs76334908 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T813C:p.T271T . . . 0.34857142 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 175.0 . . . . . . . . . . -0.0861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs76334908 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 rs4079267 rs4079267 rs76334908 rs147348598 1 1538 10 1/0 0,225,255 +rs76334908 3 75787961 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787961 75787961 Chr3(GRCh37):g.75787961A>G 813 813 NM_001128223.2:c.813T>C p.Thr271= p.Thr271Thr 5 536 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76334908 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.117 T Thr ACT 0.243 T Thr ACC 0.361 271 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T813C:p.T271T . . . 0.34857142 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 175.0 . . . . . . . . . . -0.0861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs76334908 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 rs4079267 rs4079267 rs76334908 rs147348598 1 1538 10 1/0 0,225,255 +rs79540623 3 75787962 G C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787962 75787962 Chr3(GRCh37):g.75787962G>C *448 *448 NR_036235.1:n.*448G>C p.? p.? 1 rs79540623 yes no Frequency 1 G 0.000000 0 transversion G C G>C 0.000 -0.440 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C812G:p.T271S . . . 0.43575418 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.190 . . 179.0 . . . . . . . . . . -1.2573 -1.345 -1.257 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.131 @ . . . 0.27 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.088 . . 0.399 . . . 0.217 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.208 . . 0 0 0 0 0 0 . 0.210 . . 0.145 . . . . . . 2 0.136 . . . . . 0.169 . 0.380 . HET 0.23 rs79540623 0.391 0.377 . . . . . . . . . . V.78 . . 1.IV -0.0494 . 0.440000 C9JSV9 . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.004 0.004000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.043 0.601 . 0.086 . 0.273 0.004 0.562 0.39 . . rs79540623 rs148805158 1 1538 10 1/0 0,232,255 +rs79540623 3 75787962 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787962 75787962 Chr3(GRCh37):g.75787962G>C 812 812 NM_001128223.2:c.812C>G p.Thr271Ser p.Thr271Ser 5 535 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79540623 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -0.440 T Thr ACT 0.243 S Ser AGT 0.149 271 10 6 Opossum 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 143.69 45.19 Tolerated 0.11 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C812G:p.T271S . . . 0.43575418 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.190 . . 179.0 . . . . . . . . . . -1.2573 -1.345 -1.257 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.131 @ . . . 0.27 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.088 . . 0.399 . . . 0.217 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.208 . . 0 0 0 0 0 0 . 0.210 . . 0.145 . . . . . . 2 0.136 . . . . . 0.169 . 0.380 . HET 0.23 rs79540623 0.391 0.377 . . . . . . . . . . V.78 . . 1.IV -0.0494 . 0.440000 C9JSV9 . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.004 0.004000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.043 0.601 . 0.086 . 0.273 0.004 0.562 0.39 . . rs79540623 rs148805158 1 1538 10 1/0 0,232,255 +rs78640256 3 75787996 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787996 75787996 Chr3(GRCh37):g.75787996C>T *482 *482 NR_036235.1:n.*482C>T p.? p.? 1 rs78640256 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.992 1.335 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G778A:p.G260R . . . 0.42487046 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.504 . @ . . . . . 1 0.461 . . 193.0 . . . . . . . . . . -0.2928 -0.496 -0.293 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.108 @ . . . 0.19 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.065 0.003 . . 37 . 0.094 . . 0.315 . . . 0.100 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.764 . . 0.613 . . . . . . 2 0.272 . . . . . 0.171 . 0.527 . HET 0.53 rs78640256 0.250 0.232 . . . . . . . . . . V.82 . . I.43 -0.654 . 0.100000 C9JSV9 . . . . . 0.174 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.180 -0.180000 . . 0.100000 . . 1.0E-255 0.001 0.137 . 0.016 0.294 . 0.160 . 0.277 -0.180 0.057 0.25 . . rs78640256 rs142456725 1 1538 10 1/0 0,227,255 +rs78640256 3 75787996 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787996 75787996 Chr3(GRCh37):g.75787996C>T 778 778 NM_001128223.2:c.778G>A p.Gly260Arg p.Gly260Arg 5 501 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Donor Strongly Activated 75788000 9.78584 0.95188 84.5905 X.63 0.998206 94.6711 rs78640256 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.992 1.335 G Gly GGA 0.246 R Arg AGA 0.205 260 10 2 Northern white-cheeked gibbon -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G778A:p.G260R . . . 0.42487046 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.504 . @ . . . . . 1 0.461 . . 193.0 . . . . . . . . . . -0.2928 -0.496 -0.293 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.108 @ . . . 0.19 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.065 0.003 . . 37 . 0.094 . . 0.315 . . . 0.100 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.764 . . 0.613 . . . . . . 2 0.272 . . . . . 0.171 . 0.527 . HET 0.53 rs78640256 0.250 0.232 . . . . . . . . . . V.82 . . I.43 -0.654 . 0.100000 C9JSV9 . . . . . 0.174 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.180 -0.180000 . . 0.100000 . . 1.0E-255 0.001 0.137 . 0.016 0.294 . 0.160 . 0.277 -0.180 0.057 0.25 . . rs78640256 rs142456725 1 1538 10 1/0 0,227,255 +rs3009006 3 75788010 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788010 75788010 Chr3(GRCh37):g.75788010A>C *496 *496 NR_036235.1:n.*496A>C p.? p.? 1 rs3009006 yes no Frequency/HapMap 2 C 0.000000 0 0.002624 0.000418 0.008000 0.001946 0.008757 0.002796 0.001377 0.000000 0.005137 0.008757 136 2 56 5 20 17 30 0 6 51836 4790 7000 2570 2284 6080 21786 6158 1168 0.002585 0.000418 0.008000 0.001556 0.008757 0.002632 0.001377 0.000000 0.005137 67 1 28 2 10 8 15 0 3 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.024 -2.297 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T764G:p.V255G . . . 0.83146065 . . @ 148 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.146 . . 178.0 . . . . . . . . . . -2.0075 -2.073 -2.008 c . . . . . 1.291e-03 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.059 @ . . . 0.15 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . 31834 0.489935 64976 29693 0.494999 59986 Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.028 . . 0.369 . . . 0.112 0.189 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.085 . . . . . 0.065 . 0.362 . HOM 0.18 rs151311432 0.913 0.913 . . . . . . . . . . III.44 0.012097 . I.28 -2.56 . 0.300000 C9JSV9 . . . . . 0.032 . . . 0.0008 0.0032 0.0083 0.0020 0.0100 0 0.0017 0.0065 0.0028 0 0 0 0 0 0 0 0 . . 0.310 . -3.263 -3.263000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.016 0.238 . 0.024 . 0.001 -3.263 -2.431 0.91 rs3009006 rs3009006 rs3009006 rs151311432 1 1538 10 1/0 0,238,234 +rs3009006 3 75788010 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788010 75788010 Chr3(GRCh37):g.75788010A>C 764 764 NM_001128223.2:c.764T>G p.Val255Gly p.Val255Gly 5 487 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75788010 I.07 0.002304 73.8038 3.37785 0.049419 80.048 rs3009006 yes no Frequency/HapMap 2 C 0.000000 0 0.002624 0.000418 0.008000 0.001946 0.008757 0.002796 0.001377 0.000000 0.005137 0.008757 136 2 56 5 20 17 30 0 6 51836 4790 7000 2570 2284 6080 21786 6158 1168 0.002585 0.000418 0.008000 0.001556 0.008757 0.002632 0.001377 0.000000 0.005137 67 1 28 2 10 8 15 0 3 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion T G T>G 0.024 -2.297 V Val GTG 0.468 G Gly GGG 0.250 255 10 1 -3 -3 -6 0 0.74 5.IX 9 84 3 109 C0 353.86 0.00 Tolerated 0.42 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T764G:p.V255G . . . 0.83146065 . . @ 148 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.146 . . 178.0 . . . . . . . . . . -2.0075 -2.073 -2.008 c . . . . . 1.291e-03 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.059 @ . . . 0.15 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . 31834 0.489935 64976 29693 0.494999 59986 Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.028 . . 0.369 . . . 0.112 0.189 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.085 . . . . . 0.065 . 0.362 . HOM 0.18 rs151311432 0.913 0.913 . . . . . . . . . . III.44 0.012097 . I.28 -2.56 . 0.300000 C9JSV9 . . . . . 0.032 . . . 0.0008 0.0032 0.0083 0.0020 0.0100 0 0.0017 0.0065 0.0028 0 0 0 0 0 0 0 0 . . 0.310 . -3.263 -3.263000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.016 0.238 . 0.024 . 0.001 -3.263 -2.431 0.91 rs3009006 rs3009006 rs3009006 rs151311432 1 1538 10 1/0 0,238,234 +rs76889571 3 75788023 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788023 75788023 Chr3(GRCh37):g.75788023C>T *509 *509 NR_036235.1:n.*509C>T p.? p.? 1 rs76889571 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -1.732 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G751A:p.V251I . . . 0.73015875 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.045 . . 189.0 . . . . . . . . . . -1.7022 -1.809 -1.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.033 @ . . . 0.16 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.025 . . 0.410 . . . 0.123 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.054 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.103 . . . . . 0.003 . 0.326 . HET 0.53 rs76889571 0.489 0.478 . . . . . . . . . . 0.3342 . . 2.II -4.4 . 0.370000 C9JSV9 . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -2.471 -2.471000 . . 0.370000 . . 1.0E-255 0.000 0.063 . 0.016 0.375 . 0.036 . 0.005 -2.471 0.057 0.49 . . rs76889571 rs139365447 1 1538 10 1/0 0,238,235 +rs76889571 3 75788023 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788023 75788023 Chr3(GRCh37):g.75788023C>T 751 751 NM_001128223.2:c.751G>A p.Val251Ile p.Val251Ile 5 474 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76889571 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 -1.732 V Val GTT 0.178 I Ile ATT 0.356 251 10 2 Northern white-cheeked gibbon 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G751A:p.V251I . . . 0.73015875 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.045 . . 189.0 . . . . . . . . . . -1.7022 -1.809 -1.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.033 @ . . . 0.16 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.025 . . 0.410 . . . 0.123 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.054 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.103 . . . . . 0.003 . 0.326 . HET 0.53 rs76889571 0.489 0.478 . . . . . . . . . . 0.3342 . . 2.II -4.4 . 0.370000 C9JSV9 . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -2.471 -2.471000 . . 0.370000 . . 1.0E-255 0.000 0.063 . 0.016 0.375 . 0.036 . 0.005 -2.471 0.057 0.49 . . rs76889571 rs139365447 1 1538 10 1/0 0,238,235 +rs77971486 3 75788028 G C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788028 75788028 Chr3(GRCh37):g.75788028G>C *514 *514 NR_036235.1:n.*514G>C p.? p.? 1 rs77971486 no no 0 G 0.000000 0 transversion G C G>C 0.000 1.335 154 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C746G:p.S249X . . . 0.31351352 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 0 0.357 . . 185.0 . . . . . . . . . . 0.1702 -0.237 0.170 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.206 @ . . . 0.26 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.114 . . . HET 0.44 rs77971486 0.239 0.261 . . . . . . . . . . IV.86 . . 2.II I.29 . 0.140000 . . . . . . 0.144 . . . . . . . . . . . . . . . . . . . . . . 0.050 . 0.521 0.521000 . . 0.140000 . . 1.0E-154 0.004 0.165 . 0.147 0.434 . 0.280 . 0.289 0.521 0.562 0.24 . . rs77971486 rs150689808 1 1538 10 1/0 0,230,255 +rs77971486 3 75788028 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75788028 75788028 Chr3(GRCh37):g.75788028G>C 746 746 NM_001128223.2:c.746C>G p.Ser249* p.Ser249* 5 469 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77971486 no no 0 G 0.000000 0 transversion C G C>G 0.000 1.335 S Ser TCA 0.148 * * TGA 0.489 249 154 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C746G:p.S249X . . . 0.31351352 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 0 0.357 . . 185.0 . . . . . . . . . . 0.1702 -0.237 0.170 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.206 @ . . . 0.26 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.114 . . . HET 0.44 rs77971486 0.239 0.261 . . . . . . . . . . IV.86 . . 2.II I.29 . 0.140000 . . . . . . 0.144 . . . . . . . . . . . . . . . . . . . . . . 0.050 . 0.521 0.521000 . . 0.140000 . . 1.0E-154 0.004 0.165 . 0.147 0.434 . 0.280 . 0.289 0.521 0.562 0.24 . . rs77971486 rs150689808 1 1538 10 1/0 0,230,255 +rs74357986 3 75788068 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788068 75788068 Chr3(GRCh37):g.75788068A>C *554 *554 NR_036235.1:n.*554A>C p.? p.? 1 rs74357986 no no 0 A 0.000000 0 transversion A C A>C 0.000 0.125 253 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T706G:p.F236V . . . 0.3147208 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.150 . . 197.0 . . . . . . . . . . -1.2969 -1.418 -1.297 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . 0.039 @ . . . 0.2 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.023 . . 0.400 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.269 . . 0.205 . . . . . . 2 0.079 . . . . . 0.014 . 0.420 . HET 0.31 rs74357986 0.163 0.181 . . . . . . . . . . 1.0255 . . I.94 -3.88 . 0.050000 C9JSV9 . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -1.309 -1.309000 . . 0.050000 . . 1.0E-253 0.000 0.063 . 0.016 0.007 . 0.034 . 0.011 -1.309 -0.216 0.16 rs1686397 rs1686397 rs74357986 rs144262325 1 1538 10 1/0 0,216,255 +rs74357986 3 75788068 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788068 75788068 Chr3(GRCh37):g.75788068A>C 706 706 NM_001128223.2:c.706T>G p.Phe236Val p.Phe236Val 5 429 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs74357986 no no 0 A 0.000000 0 transversion T G T>G 0.000 0.125 F Phe TTT 0.454 V Val GTT 0.178 236 10 2 Northern white-cheeked gibbon 0 -1 -2 0 0 5.II 5.IX 132 84 50 C0 353.86 0.00 Deleterious 0 IV.32 253 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T706G:p.F236V . . . 0.3147208 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.150 . . 197.0 . . . . . . . . . . -1.2969 -1.418 -1.297 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . 0.039 @ . . . 0.2 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.023 . . 0.400 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.269 . . 0.205 . . . . . . 2 0.079 . . . . . 0.014 . 0.420 . HET 0.31 rs74357986 0.163 0.181 . . . . . . . . . . 1.0255 . . I.94 -3.88 . 0.050000 C9JSV9 . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -1.309 -1.309000 . . 0.050000 . . 1.0E-253 0.000 0.063 . 0.016 0.007 . 0.034 . 0.011 -1.309 -0.216 0.16 rs1686397 rs1686397 rs74357986 rs144262325 1 1538 10 1/0 0,216,255 +rs77856895 3 75788088 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788088 75788088 Chr3(GRCh37):g.75788088C>T *574 *574 NR_036235.1:n.*574C>T p.? p.? 1 rs77856895 no no 0 C 0.000000 0 transition C T C>T 0.008 -0.117 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G686A:p.R229K . . . 0.24170616 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.090 . . 211.0 . . . . . . . . . . -1.0674 -1.194 -1.067 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.068 . . exonic exonic exonic . . 0.114 @ . . . 0.22 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.062 . . 0.400 . . . 0.447 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.211 . . 0.149 . . . . . . 2 0.158 . . . . . 0.030 . 0.323 . HET 0.34 rs77856895 0.196 0.167 . . . . . . . . . . 1.901 . . I.52 -0.481 . 0.210000 C9JSV9 . . . . . 0.053 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -0.116 -0.116000 . . 0.210000 . . 1.0E-230 0.000 0.063 . 0.062 0.061 . 0.222 . 0.014 -0.116 -0.269 0.2 rs4509589 rs4509589 rs77856895 rs151216671 1 1538 10 1/0 0,207,255 +rs77856895 3 75788088 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788088 75788088 Chr3(GRCh37):g.75788088C>T 686 686 NM_001128223.2:c.686G>A p.Arg229Lys p.Arg229Lys 5 409 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Donor Strongly Activated 75788087 0.017289 57.9201 4.33608 0.500041 66.8809 Zinc finger, C2H2 Zinc finger, C2H2-like rs77856895 no no 0 C 0.000000 0 transition G A G>A 0.008 -0.117 R Arg AGG 0.207 K Lys AAG 0.575 229 10 2 Northern white-cheeked gibbon 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Deleterious 0 IV.32 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G686A:p.R229K . . . 0.24170616 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.090 . . 211.0 . . . . . . . . . . -1.0674 -1.194 -1.067 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.068 . . exonic exonic exonic . . 0.114 @ . . . 0.22 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.062 . . 0.400 . . . 0.447 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.211 . . 0.149 . . . . . . 2 0.158 . . . . . 0.030 . 0.323 . HET 0.34 rs77856895 0.196 0.167 . . . . . . . . . . 1.901 . . I.52 -0.481 . 0.210000 C9JSV9 . . . . . 0.053 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -0.116 -0.116000 . . 0.210000 . . 1.0E-230 0.000 0.063 . 0.062 0.061 . 0.222 . 0.014 -0.116 -0.269 0.2 rs4509589 rs4509589 rs77856895 rs151216671 1 1538 10 1/0 0,207,255 +rs62246570 3 75788115 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788115 75788115 Chr3(GRCh37):g.75788115G>A *601 *601 NR_036235.1:n.*601G>A p.? p.? 1 rs62246570 no no 0 G 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000148 0.000000 0.000000 0.000000 0.000000 0.000148 1 0 0 0 1 0 0 0 0 109054 5502 18648 5722 6740 13174 45118 11312 2838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 49 Exomes transition G A G>A 0.000 -1.732 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C659T:p.T220M . . . 0.73846155 . . @ 144 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.051 . @ . . . . . 1 0.038 . . 195.0 . . . . . . . . . . -1.1954 -1.461 -1.195 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.610 . . exonic exonic exonic . . 0.039 @ . . . 0.26 0.36 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.174 0.007 . . 37 . 0.409 . . 0.362 . . . 0.124 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.670 . . 0.441 . . . . . . 2 0.308 . . . . . 0.212 . 0.385 . HET 0.17 rs62246570 0.446 0.442 . . . . . . . . . . 6.495 . . I.94 -3.88 . 0.220000 C9JSV9 . . . . . 0.036 . . . 0 9.17e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . 0.310 . -1.345 -1.345000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.043 0.018 . 0.014 . 0.289 -1.345 -0.628 0.45 rs62246570 rs62246570 rs62246570 rs145020778 1 1538 10 1/0 0,233,229 +rs62246570 3 75788115 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788115 75788115 Chr3(GRCh37):g.75788115G>A 659 659 NM_001128223.2:c.659C>T p.Thr220Met p.Thr220Met 5 382 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs62246570 no no 0 G 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000148 0.000000 0.000000 0.000000 0.000000 0.000148 1 0 0 0 1 0 0 0 0 109054 5502 18648 5722 6740 13174 45118 11312 2838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 49 Exomes transition C T C>T 0.000 -1.732 T Thr ACG 0.116 M Met ATG 1.000 220 10 1 -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Tolerated 0.11 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C659T:p.T220M . . . 0.73846155 . . @ 144 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.051 . @ . . . . . 1 0.038 . . 195.0 . . . . . . . . . . -1.1954 -1.461 -1.195 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.610 . . exonic exonic exonic . . 0.039 @ . . . 0.26 0.36 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.174 0.007 . . 37 . 0.409 . . 0.362 . . . 0.124 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.670 . . 0.441 . . . . . . 2 0.308 . . . . . 0.212 . 0.385 . HET 0.17 rs62246570 0.446 0.442 . . . . . . . . . . 6.495 . . I.94 -3.88 . 0.220000 C9JSV9 . . . . . 0.036 . . . 0 9.17e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . 0.310 . -1.345 -1.345000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.043 0.018 . 0.014 . 0.289 -1.345 -0.628 0.45 rs62246570 rs62246570 rs62246570 rs145020778 1 1538 10 1/0 0,233,229 +rs113708852 3 75788130 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788130 75788130 Chr3(GRCh37):g.75788130C>A *616 *616 NR_036235.1:n.*616C>A p.? p.? 1 rs113708852 yes no Frequency 1 C 0.000000 0 transversion C A C>A 0.071 0.528 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G644T:p.G215V . . . 0.33505154 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.092 . . 194.0 . . . . . . . . . . -0.6562 -0.946 -0.656 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.663 . . exonic exonic exonic . . 0.081 @ . . . 0.21 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.186 0.007 . . 37 . 0.668 . . 0.615 . . . 0.895 0.214 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.844 . . 0 0 0 0 0 0 . 0.415 . . 0.373 . . . . . . 2 0.586 . . . . . 0.060 . 0.421 . HET 0.06 rs113708852 0.185 0.174 . . . . . . . . . . 3.1306 . . I.94 -1.54 . 0.020000 C9JSV9 . . . . . 0.107 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.359 -0.359000 . . 0.020000 . . 1.0E-255 0.002 0.151 . 0.062 0.083 . 0.286 . 0.284 -0.359 0.542 0.18 . . rs113708852 rs113708852 1 1538 10 1/0 0,218,255 +rs113708852 3 75788130 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788130 75788130 Chr3(GRCh37):g.75788130C>A 644 644 NM_001128223.2:c.644G>T p.Gly215Val p.Gly215Val 5 367 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs113708852 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.071 0.528 G Gly GGG 0.250 V Val GTG 0.468 215 10 6 Opossum -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 353.86 0.00 Deleterious 0.03 III.93 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G644T:p.G215V . . . 0.33505154 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.092 . . 194.0 . . . . . . . . . . -0.6562 -0.946 -0.656 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.663 . . exonic exonic exonic . . 0.081 @ . . . 0.21 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.186 0.007 . . 37 . 0.668 . . 0.615 . . . 0.895 0.214 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.844 . . 0 0 0 0 0 0 . 0.415 . . 0.373 . . . . . . 2 0.586 . . . . . 0.060 . 0.421 . HET 0.06 rs113708852 0.185 0.174 . . . . . . . . . . 3.1306 . . I.94 -1.54 . 0.020000 C9JSV9 . . . . . 0.107 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.359 -0.359000 . . 0.020000 . . 1.0E-255 0.002 0.151 . 0.062 0.083 . 0.286 . 0.284 -0.359 0.542 0.18 . . rs113708852 rs113708852 1 1538 10 1/0 0,218,255 +. 3 75788150 A AG - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 duplication downstream GRCh37 75788151 75788152 Chr3(GRCh37):g.75788151dup *637 *637 NR_036235.1:n.*637dup p.? p.? 1 rs143871834 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.623dupC:p.T208fs . . . 0.35955057 . . . 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs143871834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs143871834 rs143871834 1 1538 10 1.I 0,11,44 +. 3 75788150 A AG - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 duplication frameshift exon GRCh37 75788150 75788151 Chr3(GRCh37):g.75788151dup 623 623 NM_001128223.2:c.623dup p.Gln210Serfs*3 p.Gln210Serfs*3 5 346 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs143871834 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.623dupC:p.T208fs . . . 0.35955057 . . . 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs143871834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs143871834 rs143871834 1 1538 10 1.I 0,11,44 +rs76179262 3 75788152 T G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788152 75788152 Chr3(GRCh37):g.75788152T>G *638 *638 NR_036235.1:n.*638T>G p.? p.? 1 rs76179262 yes no Frequency/1000G 2 T 0.000000 0 transversion T G T>G 0.031 0.528 110 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A622C:p.T208P . . . 0.41573033 . . @ 74 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.064 . . 178.0 . . . . . . . . . . -1.6329 -1.571 -1.633 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.556 . . exonic exonic exonic . . 0.198 @ . . . 0.24 0.42 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.088 0.004 . . 37 . 0.125 . . 0.339 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.103 . 0.400 . HET 0.37 rs76179262 0.207 0.196 . . . . . . . . . . IV.96 . . 2.VII I.16 . 1.000000 C9JSV9 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.063 0.063000 . . 1.000000 . . 1.0E-110 0.011 0.184 . 0.016 0.041 . 0.254 . 0.002 0.063 -2.299 0.21 . . rs76179262 rs148372120 1 1538 10 1/0 0,255,255 +rs76179262 3 75788152 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788152 75788152 Chr3(GRCh37):g.75788152T>G 622 622 NM_001128223.2:c.622A>C p.Thr208Pro p.Thr208Pro 5 345 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76179262 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.031 0.528 T Thr ACT 0.243 P Pro CCT 0.283 208 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.24 4.I 110 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A622C:p.T208P . . . 0.41573033 . . @ 74 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.064 . . 178.0 . . . . . . . . . . -1.6329 -1.571 -1.633 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.556 . . exonic exonic exonic . . 0.198 @ . . . 0.24 0.42 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.088 0.004 . . 37 . 0.125 . . 0.339 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.103 . 0.400 . HET 0.37 rs76179262 0.207 0.196 . . . . . . . . . . IV.96 . . 2.VII I.16 . 1.000000 C9JSV9 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.063 0.063000 . . 1.000000 . . 1.0E-110 0.011 0.184 . 0.016 0.041 . 0.254 . 0.002 0.063 -2.299 0.21 . . rs76179262 rs148372120 1 1538 10 1/0 0,255,255 +rs202056407 3 75788156 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788156 75788156 Chr3(GRCh37):g.75788156C>T *642 *642 NR_036235.1:n.*642C>T p.? p.? 1 rs202056407 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119718 5880 20490 6546 7124 14626 48752 13184 3116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 59 Exomes transition C T C>T 0.630 1.093 211 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G618A:p.L206L . . . 0.18817204 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . -0.1286 . . . . . . . . 1.022e-04 . . . 0 0.0001 0 0 0 0 0 0.0004 0 0.0002 0 0 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs202056407 0.098 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.098 rs4509588 rs4509588 rs202056407 rs202056407 1 1538 10 1/0 0,208,255 +rs202056407 3 75788156 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788156 75788156 Chr3(GRCh37):g.75788156C>T 618 618 NM_001128223.2:c.618G>A p.Leu206= p.Leu206Leu 5 341 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs202056407 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119718 5880 20490 6546 7124 14626 48752 13184 3116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 59 Exomes transition G A G>A 0.630 1.093 L Leu CTG 0.404 L Leu CTA 0.070 206 211 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G618A:p.L206L . . . 0.18817204 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . -0.1286 . . . . . . . . 1.022e-04 . . . 0 0.0001 0 0 0 0 0 0.0004 0 0.0002 0 0 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs202056407 0.098 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.098 rs4509588 rs4509588 rs202056407 rs202056407 1 1538 10 1/0 0,208,255 +rs200778975 3 75788165 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788165 75788165 Chr3(GRCh37):g.75788165T>C *651 *651 NR_036235.1:n.*651T>C p.? p.? 1 rs200778975 no no 0 T 0.000000 0 transition T C T>C 0.260 0.367 210 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A609G:p.Q203Q . . . 0.18367347 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 196.0 . . . . . . . . . . 0.1086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.42 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200778975 0.098 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . 0.098 rs4607894 rs4607894 rs200778975 rs200778975 1 1538 10 1/0 0,205,255 +rs200778975 3 75788165 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788165 75788165 Chr3(GRCh37):g.75788165T>C 609 609 NM_001128223.2:c.609A>G p.Gln203= p.Gln203Gln 5 332 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs200778975 no no 0 T 0.000000 0 transition A G A>G 0.260 0.367 Q Gln CAA 0.256 Q Gln CAG 0.744 203 210 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A609G:p.Q203Q . . . 0.18367347 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 196.0 . . . . . . . . . . 0.1086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.42 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200778975 0.098 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . 0.098 rs4607894 rs4607894 rs200778975 rs200778975 1 1538 10 1/0 0,205,255 +rs77110669 3 75788199 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788199 75788199 Chr3(GRCh37):g.75788199T>C *685 *685 NR_036235.1:n.*685T>C p.? p.? 1 rs77110669 yes no Frequency 1 T 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.000000 0.000080 1 0 0 0 0 0 0 1 0 116088 5338 20196 6406 7050 14510 47052 12496 3040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition T C T>C 0.000 -0.117 251 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A575G:p.H192R . . . 0.30857143 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.053 . . 175.0 . . . . . . . . . . -1.8632 -1.930 -1.863 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.411 . . exonic exonic exonic . . 0.039 @ . . . 0.21 0.45 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.458 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.144 . . 0.236 . . . 0.209 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.233 . . 0.184 . . . . . . 2 0.038 . . . . . 0.080 . 0.458 . HET 0.8 rs77110669 0.076 0.058 . . . . . . . . . . 3.756 . . I.92 -3.85 . 0.590000 C9JSV9 . . . . . 0.035 . . . 0 8.614e-06 0 0 0 8.003e-05 0 0 0 . . . . . . . . . . 0.553 . -1.218 -1.218000 . . 0.590000 . . 1.0E-251 0.000 0.063 . 0.016 0.017 . 0.018 . 0.020 -1.218 0.615 0.076 . . rs77110669 rs146090776 1 1538 10 1/0 0,221,255 +rs77110669 3 75788199 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788199 75788199 Chr3(GRCh37):g.75788199T>C 575 575 NM_001128223.2:c.575A>G p.His192Arg p.His192Arg 5 298 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77110669 yes no Frequency 1 T 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.000000 0.000080 1 0 0 0 0 0 0 1 0 116088 5338 20196 6406 7050 14510 47052 12496 3040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition A G A>G 0.000 -0.117 H His CAT 0.413 R Arg CGT 0.082 192 10 2 Northern white-cheeked gibbon 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Tolerated 0.34 III.90 251 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A575G:p.H192R . . . 0.30857143 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.053 . . 175.0 . . . . . . . . . . -1.8632 -1.930 -1.863 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.411 . . exonic exonic exonic . . 0.039 @ . . . 0.21 0.45 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.458 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.144 . . 0.236 . . . 0.209 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.233 . . 0.184 . . . . . . 2 0.038 . . . . . 0.080 . 0.458 . HET 0.8 rs77110669 0.076 0.058 . . . . . . . . . . 3.756 . . I.92 -3.85 . 0.590000 C9JSV9 . . . . . 0.035 . . . 0 8.614e-06 0 0 0 8.003e-05 0 0 0 . . . . . . . . . . 0.553 . -1.218 -1.218000 . . 0.590000 . . 1.0E-251 0.000 0.063 . 0.016 0.017 . 0.018 . 0.020 -1.218 0.615 0.076 . . rs77110669 rs146090776 1 1538 10 1/0 0,221,255 +rs200049185 3 75788217 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788217 75788217 Chr3(GRCh37):g.75788217G>A *703 *703 NR_036235.1:n.*703G>A p.? p.? 1 rs200049185 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.117 202 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C557T:p.T186I . . . 0.1633987 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.380 . . 153.0 . . . . . . . . . . -1.1472 -1.242 -1.147 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.601 . . exonic exonic exonic . . 0.091 @ . . . 0.29 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.413 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.172 0.006 . . 37 . 0.319 . . 0.176 . . . 0.270 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.222 . . 0.158 . . . . . . 2 0.238 . . . . . 0.044 . 0.484 . HET 0.38 rs200049185 0.011 0.007 . . . . . . . . . . 2.541 . . 2.VII -1.17 . 0.040000 C9JSV9 . . . . . 0.032 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.277 -0.277000 . . 0.040000 . . 1.0E-202 0.000 0.063 . 0.043 0.001 . 0.138 . 0.282 -0.277 -0.628 0.011 rs4582810 rs4582810 rs200049185 rs200049185 1 1538 10 1/0 0,214,255 +rs200049185 3 75788217 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788217 75788217 Chr3(GRCh37):g.75788217G>A 557 557 NM_001128223.2:c.557C>T p.Thr186Ile p.Thr186Ile 5 280 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs200049185 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.117 T Thr ACC 0.361 I Ile ATC 0.481 186 10 2 Northern white-cheeked gibbon -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.16 IV.14 202 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C557T:p.T186I . . . 0.1633987 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.380 . . 153.0 . . . . . . . . . . -1.1472 -1.242 -1.147 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.601 . . exonic exonic exonic . . 0.091 @ . . . 0.29 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.413 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.172 0.006 . . 37 . 0.319 . . 0.176 . . . 0.270 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.222 . . 0.158 . . . . . . 2 0.238 . . . . . 0.044 . 0.484 . HET 0.38 rs200049185 0.011 0.007 . . . . . . . . . . 2.541 . . 2.VII -1.17 . 0.040000 C9JSV9 . . . . . 0.032 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.277 -0.277000 . . 0.040000 . . 1.0E-202 0.000 0.063 . 0.043 0.001 . 0.138 . 0.282 -0.277 -0.628 0.011 rs4582810 rs4582810 rs200049185 rs200049185 1 1538 10 1/0 0,214,255 +rs79835104 3 75788245 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788245 75788245 Chr3(GRCh37):g.75788245C>T *731 *731 NR_036235.1:n.*731C>T p.? p.? 1 rs79835104 no no 0 C 0.000000 0 transition C T C>T 0.969 3.514 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G529A:p.G177R . . . 0.37857142 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.485 . @ . . . . . 1 0.606 . . 140.0 . . . . . . . . . . -0.1414 -0.397 -0.141 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.259 @ . . . 0.43 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.386 0.017 . . 37 . 0.694 . . 0.711 . . . 0.637 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.662 . . 0 0 0 0 0 0 . 0.622 . . 0.610 . . . . . . 2 0.155 . . . . . 0.429 . 0.515 . HET 0.23 rs79835104 0.076 0.058 . . . . . . . . . . X.94 . . 2.VII 2.VII . 0.120000 C9JSV9 . . . . . 0.083 . . 2.VII . . . . . . . . . . . . . . . . . . . 0.321 . 1.540 1.540000 . . 0.120000 . . 1.0E-255 0.129 0.231 . 0.043 0.594 . 0.417 . 0.283 1.540 0.542 0.076 . . rs79835104 rs142742998 1 1538 10 1/0 0,237,255 +rs79835104 3 75788245 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788245 75788245 Chr3(GRCh37):g.75788245C>T 529 529 NM_001128223.2:c.529G>A p.Gly177Arg p.Gly177Arg 5 252 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79835104 no no 0 C 0.000000 0 transition G A G>A 0.969 3.514 G Gly GGA 0.246 R Arg AGA 0.205 177 10 4 Opossum -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G529A:p.G177R . . . 0.37857142 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.485 . @ . . . . . 1 0.606 . . 140.0 . . . . . . . . . . -0.1414 -0.397 -0.141 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.259 @ . . . 0.43 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.386 0.017 . . 37 . 0.694 . . 0.711 . . . 0.637 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.662 . . 0 0 0 0 0 0 . 0.622 . . 0.610 . . . . . . 2 0.155 . . . . . 0.429 . 0.515 . HET 0.23 rs79835104 0.076 0.058 . . . . . . . . . . X.94 . . 2.VII 2.VII . 0.120000 C9JSV9 . . . . . 0.083 . . 2.VII . . . . . . . . . . . . . . . . . . . 0.321 . 1.540 1.540000 . . 0.120000 . . 1.0E-255 0.129 0.231 . 0.043 0.594 . 0.417 . 0.283 1.540 0.542 0.076 . . rs79835104 rs142742998 1 1538 10 1/0 0,237,255 +rs79526626 3 75788258 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788258 75788258 Chr3(GRCh37):g.75788258C>A *744 *744 NR_036235.1:n.*744C>A p.? p.? 1 rs79526626 yes no Frequency 1 C 0.000000 0 0.001041 0.002306 0.000766 0.000546 0.000202 0.000228 0.001127 0.000794 0.001786 0.002306 64 16 7 1 1 1 31 4 3 61454 6938 9140 1832 4940 4386 27502 5036 1680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 16 7 1 1 1 31 4 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.440 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G516T:p.G172G . . . 0.7285714 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.3189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.39 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs79526626 0.217 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0.0002 0.0006 0 0 4.723e-05 0 0.0002 0.0046 0.0046 0.0128 0 0.0025 0.0022 0.0047 0.0075 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.22 . . rs79526626 rs147362558 1 1538 10 1/0 0,254,252 +rs79526626 3 75788258 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788258 75788258 Chr3(GRCh37):g.75788258C>A 516 516 NM_001128223.2:c.516G>T p.Gly172= p.Gly172Gly 5 239 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 New Donor Site 75788260 7.53822 0.963947 81.7977 rs79526626 yes no Frequency 1 C 0.000000 0 0.001041 0.002306 0.000766 0.000546 0.000202 0.000228 0.001127 0.000794 0.001786 0.002306 64 16 7 1 1 1 31 4 3 61454 6938 9140 1832 4940 4386 27502 5036 1680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 16 7 1 1 1 31 4 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -0.440 G Gly GGG 0.250 G Gly GGT 0.162 172 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G516T:p.G172G . . . 0.7285714 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.3189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.39 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs79526626 0.217 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0.0002 0.0006 0 0 4.723e-05 0 0.0002 0.0046 0.0046 0.0128 0 0.0025 0.0022 0.0047 0.0075 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.22 . . rs79526626 rs147362558 1 1538 10 1/0 0,254,252 +rs77301061 3 75788273 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788273 75788273 Chr3(GRCh37):g.75788273G>T *759 *759 NR_036235.1:n.*759G>T p.? p.? 1 rs77301061 yes no Frequency 1 G 0.000000 0 transversion G T G>T 0.000 -0.763 182 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C501A:p.F167L . . . 0.11764706 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.116 . . 136.0 . . . . . . . . . . -1.3305 -1.383 -1.331 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . 0.085 @ . . . 0.39 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.167 . . 0.283 . . . 0.187 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 2 0.041 . . . . . 0.087 . 0.317 . LowAF 1 rs77301061 . 0.007 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . III.61 . . 2.VII -1.39 . 0.730000 C9JSV9 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -0.312 -0.312000 . . 0.730000 . . 1.0E-182 0.131 0.231 . 0.043 0.031 . 0.348 . 0.288 -0.312 0.060 . rs4240969 rs4240969 rs77301061 rs77301061 1 1538 10 1/0 0,215,255 +rs77301061 3 75788273 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788273 75788273 Chr3(GRCh37):g.75788273G>T 501 501 NM_001128223.2:c.501C>A p.Phe167Leu p.Phe167Leu 5 224 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77301061 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.000 -0.763 F Phe TTC 0.546 L Leu TTA 0.073 167 10 3 White-tuffed-ear marmoset 1 0 0 0 0 5.II 4.IX 132 111 22 C0 353.86 0.00 Tolerated 0.35 IV.32 182 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C501A:p.F167L . . . 0.11764706 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.116 . . 136.0 . . . . . . . . . . -1.3305 -1.383 -1.331 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . 0.085 @ . . . 0.39 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.167 . . 0.283 . . . 0.187 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 2 0.041 . . . . . 0.087 . 0.317 . LowAF 1 rs77301061 . 0.007 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . III.61 . . 2.VII -1.39 . 0.730000 C9JSV9 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -0.312 -0.312000 . . 0.730000 . . 1.0E-182 0.131 0.231 . 0.043 0.031 . 0.348 . 0.288 -0.312 0.060 . rs4240969 rs4240969 rs77301061 rs77301061 1 1538 10 1/0 0,215,255 +rs76243986 3 75788281 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788281 75788281 Chr3(GRCh37):g.75788281T>C *767 *767 NR_036235.1:n.*767T>C p.? p.? 1 rs76243986 yes no Frequency 1 T 0.000000 0 0.001642 0.003404 0.000759 0.000868 0.001045 0.000000 0.001841 0.000637 0.003145 0.003404 77 20 5 1 4 0 41 2 4 46886 5876 6588 1152 3828 2758 22274 3138 1272 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 20 5 1 4 0 41 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.812 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A493G:p.M165V . . . 0.74626863 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.028 . . 134.0 . . . . . . . . . . -1.8649 -1.946 -1.865 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.389 . . exonic exonic exonic . . 0.036 @ . . . 0.39 0.48 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.178 . . 0.229 . . . 0.043 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.110 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.076 . . . . . 0.141 . 0.483 . HET 0.57 rs76243986 0.370 0.362 . . . . . . . . . . 5.1252 . . 2.VII -4.14 . 0.560000 C9JSV9 . . . . . 0.041 . . . 0.0003 0.0003 0.0002 0.0010 0.0003 0 0.0004 0 0 0.0070 0.0057 0.0115 0 0.0084 0.0013 0.0057 0.0107 . . 0.553 . -1.813 -1.813000 . . 0.560000 . . 1.0E-255 0.000 0.063 . 0.016 0.058 . 0.147 . 0.007 -1.813 0.615 0.37 . . rs76243986 rs139032275 1 1538 10 1/0 0,255,253 +rs76243986 3 75788281 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788281 75788281 Chr3(GRCh37):g.75788281T>C 493 493 NM_001128223.2:c.493A>G p.Met165Val p.Met165Val 5 216 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76243986 yes no Frequency 1 T 0.000000 0 0.001642 0.003404 0.000759 0.000868 0.001045 0.000000 0.001841 0.000637 0.003145 0.003404 77 20 5 1 4 0 41 2 4 46886 5876 6588 1152 3828 2758 22274 3138 1272 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 20 5 1 4 0 41 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.812 M Met ATG 1.000 V Val GTG 0.468 165 10 2 White-tuffed-ear marmoset 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 353.86 0.00 Tolerated 1 IV.14 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A493G:p.M165V . . . 0.74626863 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.028 . . 134.0 . . . . . . . . . . -1.8649 -1.946 -1.865 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.389 . . exonic exonic exonic . . 0.036 @ . . . 0.39 0.48 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.178 . . 0.229 . . . 0.043 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.110 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.076 . . . . . 0.141 . 0.483 . HET 0.57 rs76243986 0.370 0.362 . . . . . . . . . . 5.1252 . . 2.VII -4.14 . 0.560000 C9JSV9 . . . . . 0.041 . . . 0.0003 0.0003 0.0002 0.0010 0.0003 0 0.0004 0 0 0.0070 0.0057 0.0115 0 0.0084 0.0013 0.0057 0.0107 . . 0.553 . -1.813 -1.813000 . . 0.560000 . . 1.0E-255 0.000 0.063 . 0.016 0.058 . 0.147 . 0.007 -1.813 0.615 0.37 . . rs76243986 rs139032275 1 1538 10 1/0 0,255,253 +. 3 75788291 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788291 75788291 Chr3(GRCh37):g.75788291A>G *777 *777 NR_036235.1:n.*777A>G p.? p.? 1 rs796661899 no no 0 0.000000 0 transition A G A>G 0.000 -0.602 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T483C:p.D161D . . . 0.35433072 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . -0.3819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs138877004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75972102 rs138877004 1 1538 10 1/0 0,240,255 +. 3 75788291 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788291 75788291 Chr3(GRCh37):g.75788291A>G 483 483 NM_001128223.2:c.483T>C p.Asp161= p.Asp161Asp 5 206 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs796661899 no no 0 0.000000 0 transition T C T>C 0.000 -0.602 D Asp GAT 0.461 D Asp GAC 0.539 161 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T483C:p.D161D . . . 0.35433072 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . -0.3819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs138877004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75972102 rs138877004 1 1538 10 1/0 0,240,255 +. 3 75788303 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788303 75788303 Chr3(GRCh37):g.75788303C>T *789 *789 NR_036235.1:n.*789C>T p.? p.? 1 transition C T C>T 0.000 -0.279 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G471A:p.G157G . . . 0.13636364 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . -0.1961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.36 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs144843412 0.065 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.065 rs4448525 rs4448525 rs77400845 rs144843412 1 1538 10 1/0 0,217,255 +. 3 75788303 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788303 75788303 Chr3(GRCh37):g.75788303C>T 471 471 NM_001128223.2:c.471G>A p.Gly157= p.Gly157Gly 5 194 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition G A G>A 0.000 -0.279 G Gly GGG 0.250 G Gly GGA 0.246 157 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G471A:p.G157G . . . 0.13636364 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . -0.1961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.36 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs144843412 0.065 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.065 rs4448525 rs4448525 rs77400845 rs144843412 1 1538 10 1/0 0,217,255 +rs79381924 3 75788314 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788314 75788314 Chr3(GRCh37):g.75788314T>C *800 *800 NR_036235.1:n.*800T>C p.? p.? 1 rs79381924 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 1.013 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A460G:p.M154V . . . 0.38345864 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.107 . . 133.0 . . . . . . . . . . -1.1761 -1.216 -1.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.181 @ . . . 0.43 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.222 . . 0.176 . . . 0.104 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.165 . . 0.093 . . . . . . 2 0.138 . . . . . 0.161 . 0.447 . HET 1 rs79381924 0.174 0.167 . . . . . . . . . . V.13 . . 2.VII 0.859 . 0.070000 C9JSV9 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.280 0.280000 . . 0.070000 . . 1.0E-255 0.003 0.159 . 0.062 0.040 . 0.152 . 0.288 0.280 -0.267 0.17 . . rs79381924 rs148579340 1 1538 10 1/0 0,239,255 +rs79381924 3 75788314 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788314 75788314 Chr3(GRCh37):g.75788314T>C 460 460 NM_001128223.2:c.460A>G p.Met154Val p.Met154Val 5 183 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79381924 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 1.013 M Met ATG 1.000 V Val GTG 0.468 154 10 2 Northern white-cheeked gibbon 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 353.86 0.00 Tolerated 0.63 III.95 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A460G:p.M154V . . . 0.38345864 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.107 . . 133.0 . . . . . . . . . . -1.1761 -1.216 -1.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.181 @ . . . 0.43 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.222 . . 0.176 . . . 0.104 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.165 . . 0.093 . . . . . . 2 0.138 . . . . . 0.161 . 0.447 . HET 1 rs79381924 0.174 0.167 . . . . . . . . . . V.13 . . 2.VII 0.859 . 0.070000 C9JSV9 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.280 0.280000 . . 0.070000 . . 1.0E-255 0.003 0.159 . 0.062 0.040 . 0.152 . 0.288 0.280 -0.267 0.17 . . rs79381924 rs148579340 1 1538 10 1/0 0,239,255 +rs79165653 3 75788316 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788316 75788316 Chr3(GRCh37):g.75788316C>T *802 *802 NR_036235.1:n.*802C>T p.? p.? 1 rs79165653 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 0.770 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G458A:p.G153E . . . 0.36363637 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.307 . @ . . . . . 1 0.076 . . 132.0 . . . . . . . . . . -0.6392 -0.903 -0.639 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . 0.136 @ . . . 0.41 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.437 . . 0.284 . . . 0.615 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.577 . . 0.560 . . . . . . 2 0.206 . . . . . 0.136 . 0.545 . HET 0.13 rs79165653 0.141 0.152 . . . . . . . . . . 5.0085 . . 2.VII 0.0588 . 0.250000 C9JSV9 . . . . . 0.039 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.039 0.039000 . . 0.250000 . . 1.0E-255 0.011 0.184 . 0.062 0.033 . 0.260 . 0.283 0.039 -0.269 0.14 . . rs79165653 rs146102310 1 1538 10 1/0 0,239,255 +rs79165653 3 75788316 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788316 75788316 Chr3(GRCh37):g.75788316C>T 458 458 NM_001128223.2:c.458G>A p.Gly153Glu p.Gly153Glu 5 181 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79165653 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 0.770 G Gly GGA 0.246 E Glu GAA 0.417 153 10 5 Opossum -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Deleterious 0.03 III.93 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G458A:p.G153E . . . 0.36363637 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.307 . @ . . . . . 1 0.076 . . 132.0 . . . . . . . . . . -0.6392 -0.903 -0.639 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . 0.136 @ . . . 0.41 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.437 . . 0.284 . . . 0.615 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.577 . . 0.560 . . . . . . 2 0.206 . . . . . 0.136 . 0.545 . HET 0.13 rs79165653 0.141 0.152 . . . . . . . . . . 5.0085 . . 2.VII 0.0588 . 0.250000 C9JSV9 . . . . . 0.039 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.039 0.039000 . . 0.250000 . . 1.0E-255 0.011 0.184 . 0.062 0.033 . 0.260 . 0.283 0.039 -0.269 0.14 . . rs79165653 rs146102310 1 1538 10 1/0 0,239,255 +rs80085410 3 75788366 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788366 75788366 Chr3(GRCh37):g.75788366C>A *852 *852 NR_036235.1:n.*852C>A p.? p.? 1 rs80085410 yes no Frequency 1 C 0.000000 0 0.000530 0.000000 0.000429 0.000000 0.000341 0.000000 0.000436 0.003235 0.001835 0.003235 20 0 2 0 1 0 8 7 2 37748 6084 4664 812 2932 1644 18358 2164 1090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 2 0 1 0 8 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.035 0.851 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G408T:p.L136F . . . 0.39716312 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.096 . . 141.0 . . . . . . . . . . -0.9788 -1.096 -0.979 c . . . . . 3.736e-04 . . . 0 0.0019 0 0 0 0.0027 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.699 . . exonic exonic exonic . . 0.203 @ . . . 0.25 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.186 0.007 . . 37 . 0.541 . . 0.393 . . . 0.576 0.198 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.272 . . 0.271 . . . . . . 2 0.102 . . . . . 0.216 . 0.508 . HET 0.34 rs80085410 0.120 0.094 . . . . . . . . . . VI.26 . . II.13 I.23 . 0.700000 C9JSV9 . . . . . 0.036 . . . 0 4.26e-05 0 0 0 0 9.111e-05 0 0 0 0.0013 0.0048 0 0.0023 0.0041 0.0009 0.0046 . . 0.000 . 0.482 0.482000 . . 0.700000 . . 1.0E-255 0.000 0.063 . 0.100 0.018 . 0.009 . 0.283 0.482 -0.269 0.12 . . rs80085410 rs146603260 1 1538 10 1/0 0,238,255 +rs80085410 3 75788366 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788366 75788366 Chr3(GRCh37):g.75788366C>A 408 408 NM_001128223.2:c.408G>T p.Leu136Phe p.Leu136Phe 5 131 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs80085410 yes no Frequency 1 C 0.000000 0 0.000530 0.000000 0.000429 0.000000 0.000341 0.000000 0.000436 0.003235 0.001835 0.003235 20 0 2 0 1 0 8 7 2 37748 6084 4664 812 2932 1644 18358 2164 1090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 2 0 1 0 8 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.035 0.851 L Leu TTG 0.127 F Phe TTT 0.454 136 10 3 Rabbit 1 0 0 0 0 4.IX 5.II 111 132 22 C0 272.33 13.17 Tolerated 0.27 III.86 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G408T:p.L136F . . . 0.39716312 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.096 . . 141.0 . . . . . . . . . . -0.9788 -1.096 -0.979 c . . . . . 3.736e-04 . . . 0 0.0019 0 0 0 0.0027 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.699 . . exonic exonic exonic . . 0.203 @ . . . 0.25 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.186 0.007 . . 37 . 0.541 . . 0.393 . . . 0.576 0.198 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.272 . . 0.271 . . . . . . 2 0.102 . . . . . 0.216 . 0.508 . HET 0.34 rs80085410 0.120 0.094 . . . . . . . . . . VI.26 . . II.13 I.23 . 0.700000 C9JSV9 . . . . . 0.036 . . . 0 4.26e-05 0 0 0 0 9.111e-05 0 0 0 0.0013 0.0048 0 0.0023 0.0041 0.0009 0.0046 . . 0.000 . 0.482 0.482000 . . 0.700000 . . 1.0E-255 0.000 0.063 . 0.100 0.018 . 0.009 . 0.283 0.482 -0.269 0.12 . . rs80085410 rs146603260 1 1538 10 1/0 0,238,255 +. 3 75788403 G GT - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 duplication downstream GRCh37 75788405 75788406 Chr3(GRCh37):g.75788405dup *891 *891 NR_036235.1:n.*891dup p.? p.? 1 rs796635706 no no 0 0.000000 0 T 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.370dupA:p.T124fs . . . 0.20915033 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs140509507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,68 +. 3 75788403 G GT - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 duplication frameshift exon GRCh37 75788403 75788404 Chr3(GRCh37):g.75788404dup 370 370 NM_001128223.2:c.370dup p.Thr124Asnfs*6 p.Thr124Asnfs*6 5 93 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs796635706 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.370dupA:p.T124fs . . . 0.20915033 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs140509507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,68 +. 3 75788432 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788432 75788432 Chr3(GRCh37):g.75788432T>A *918 *918 NR_036235.1:n.*918T>A p.? p.? 1 transversion T A T>A 0.008 0.851 221 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A342T:p.Q114H . . . 0.21621622 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.212 . . 148.0 . . . . . . . . . . -0.7046 -0.922 -0.705 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.183 @ . . . 0.26 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.428 . . 0.259 . . . 0.354 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.548 . . 0.559 . . . . . . 2 0.349 . . . . . 0.230 . 0.501 . HET 0.11 rs143693332 . . . . . . . . . . . . VI.45 . . II.13 0.901 . 0.080000 C9JSV9 . . . . . 0.061 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.264 0.264000 . . 0.080000 . . 1.0E-221 0.001 0.137 . 0.074 0.007 . 0.100 . 0.107 0.264 -0.267 . rs11122680 rs11122680 rs74703212 rs143693332 1 1538 10 1/0 0,220,255 +. 3 75788432 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788432 75788432 Chr3(GRCh37):g.75788432T>A 342 342 NM_001128223.2:c.342A>T p.Gln114His p.Gln114His 5 65 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.09398 0 Cryptic Acceptor Strongly Activated 75788414 3.87979 0.000179 68.6264 4.61305 0.000355 68.6264 transversion A T A>T 0.008 0.851 Q Gln CAA 0.256 H His CAT 0.413 114 10 4 Rabbit 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 IV.14 221 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A342T:p.Q114H . . . 0.21621622 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.212 . . 148.0 . . . . . . . . . . -0.7046 -0.922 -0.705 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.183 @ . . . 0.26 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.428 . . 0.259 . . . 0.354 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.548 . . 0.559 . . . . . . 2 0.349 . . . . . 0.230 . 0.501 . HET 0.11 rs143693332 . . . . . . . . . . . . VI.45 . . II.13 0.901 . 0.080000 C9JSV9 . . . . . 0.061 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.264 0.264000 . . 0.080000 . . 1.0E-221 0.001 0.137 . 0.074 0.007 . 0.100 . 0.107 0.264 -0.267 . rs11122680 rs11122680 rs74703212 rs143693332 1 1538 10 1/0 0,220,255 +rs4011155 3 75788434 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788434 75788434 Chr3(GRCh37):g.75788434G>T *920 *920 NR_036235.1:n.*920G>T p.? p.? 1 rs4011155 yes no Frequency 1 G 0.000000 0 transversion G T G>T 0.000 0.044 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C340A:p.Q114K . . . 0.36 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.071 . . 150.0 . . . . . . . . . . -0.9905 -1.127 -0.991 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.449 . . exonic exonic exonic . . 0.128 @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.223 . . 0.175 . . . 0.319 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.096 . . 0 0 0 0 0 0 . 0.371 . . 0.305 . . . . . . 2 0.020 . . . . . 0.350 . 0.546 . HET 0.75 rs4011155 0.196 0.188 . . . . . . . . . . VIII.61 . . II.13 -0.13 . 0.710000 C9JSV9 . . . . . 0.023 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.008 -0.008000 . . 0.710000 . . 1.0E-255 0.008 0.178 . 0.114 0.019 . 0.263 . 0.288 -0.008 0.562 0.2 rs4011155 rs4011155 rs77608525 rs111690488 1 1538 10 1/0 0,232,255 +rs4011155 3 75788434 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788434 75788434 Chr3(GRCh37):g.75788434G>T 340 340 NM_001128223.2:c.340C>A p.Gln114Lys p.Gln114Lys 5 63 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 6.87616 0 rs4011155 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.000 0.044 Q Gln CAA 0.256 K Lys AAA 0.425 114 10 4 Rabbit 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 0.1 IV.14 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C340A:p.Q114K . . . 0.36 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.071 . . 150.0 . . . . . . . . . . -0.9905 -1.127 -0.991 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.449 . . exonic exonic exonic . . 0.128 @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.223 . . 0.175 . . . 0.319 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.096 . . 0 0 0 0 0 0 . 0.371 . . 0.305 . . . . . . 2 0.020 . . . . . 0.350 . 0.546 . HET 0.75 rs4011155 0.196 0.188 . . . . . . . . . . VIII.61 . . II.13 -0.13 . 0.710000 C9JSV9 . . . . . 0.023 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.008 -0.008000 . . 0.710000 . . 1.0E-255 0.008 0.178 . 0.114 0.019 . 0.263 . 0.288 -0.008 0.562 0.2 rs4011155 rs4011155 rs77608525 rs111690488 1 1538 10 1/0 0,232,255 +rs74485599 3 75788484 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788484 75788484 Chr3(GRCh37):g.75788484A>G *970 *970 NR_036235.1:n.*970A>G p.? p.? 1 rs74485599 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.000 1.658 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T290C:p.I97T . . . 0.42372882 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.083 . . 118.0 . . . . . . . . . . -1.2771 -1.314 -1.277 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.170 @ . . . 0.29 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.144 . . 0.306 . . . 0.084 0.218 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.119 . . 0.121 . . . . . . 2 0.302 . . . . . 0.150 . 0.660 . HET 0.03 rs74485599 0.109 0.080 . . . . . . . . . . V.05 . . I.88 0.666 . 0.440000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.219 0.219000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.043 0.178 . 0.098 . 0.281 0.219 -0.542 0.11 . . rs74485599 rs140451185 1 1538 10 1/0 0,250,255 +rs74485599 3 75788484 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788484 75788484 Chr3(GRCh37):g.75788484A>G 290 290 NM_001128223.2:c.290T>C p.Ile97Thr p.Ile97Thr 5 13 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.965585 7.21037 0.00345831 rs74485599 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.000 1.658 I Ile ATT 0.356 T Thr ACT 0.243 97 10 3 Rabbit -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.13 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T290C:p.I97T . . . 0.42372882 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.083 . . 118.0 . . . . . . . . . . -1.2771 -1.314 -1.277 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.170 @ . . . 0.29 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.144 . . 0.306 . . . 0.084 0.218 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.119 . . 0.121 . . . . . . 2 0.302 . . . . . 0.150 . 0.660 . HET 0.03 rs74485599 0.109 0.080 . . . . . . . . . . V.05 . . I.88 0.666 . 0.440000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.219 0.219000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.043 0.178 . 0.098 . 0.281 0.219 -0.542 0.11 . . rs74485599 rs140451185 1 1538 10 1/0 0,250,255 +rs111354562 3 75788489 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788489 75788489 Chr3(GRCh37):g.75788489C>T *975 *975 NR_036235.1:n.*975C>T p.? p.? 1 rs111354562 no no 0 C 0.000000 0 transition C T C>T 0.000 -0.440 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G285A:p.Q95Q . . . 0.13793103 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . -0.1319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs111354562 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.033 rs4847466 rs4847466 rs111354562 rs111354562 1 1538 10 1/0 0,223,255 +rs111354562 3 75788489 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788489 75788489 Chr3(GRCh37):g.75788489C>T 285 285 NM_001128223.2:c.285G>A p.Gln95= p.Gln95Gln 5 8 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.932962 6.96178 -0.00792045 rs111354562 no no 0 C 0.000000 0 transition G A G>A 0.000 -0.440 Q Gln CAG 0.744 Q Gln CAA 0.256 95 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G285A:p.Q95Q . . . 0.13793103 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . -0.1319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs111354562 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.033 rs4847466 rs4847466 rs111354562 rs111354562 1 1538 10 1/0 0,223,255 +rs1971517 3 75790444 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790444 75790444 Chr3(GRCh37):g.75790444G>A 260 260 NM_001128223.2:c.260C>T p.Pro87Leu p.Pro87Leu 4 -18 5' 90.1175 8.94121 0.964341 4.93536 90.1175 8.94121 0.964341 4.403 0 Krueppel-associated box rs1971517 yes no Frequency 1 A 0.000000 0 transition C T C>T 0.000 0.770 P Pro CCA 0.274 L Leu CTA 0.070 87 10 2 Northern white-cheeked gibbon -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 1 IV.32 213 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.C260T:p.P87L . . . 0.19379845 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.112 . @ . . . . . 1 0.016 . . 129.0 . . . . . . . . . . -0.9715 -0.977 -0.971 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.389 . . exonic exonic exonic . . 0.252 @ . . . 0.25 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.032 0.002 . . 37 . 0.082 . . 0.038 . . . 0.307 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.397 . . 0 0 0 0 0 0 . 0.375 . . 0.241 . . . . . . 1 0.108 . . . . . 0.118 . 0.670 . HET 0.23 rs141084845 0.293 0.297 . . . . . . . . . . IV.33 . . I.97 I.97 . 0.310000 C9JSV9 . . . . . 0.047 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 1.127 1.127000 . . 0.310000 . . 1.0E-213 0.126 0.231 . 0.083 0.016 . 0.462 . 0.295 1.127 0.562 0.29 rs1971517 rs1971517 rs1971517 rs141084845 1 1538 10 1/0 0,223,255 +rs79202307 3 75790446 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790446 75790446 Chr3(GRCh37):g.75790446G>T 258 258 NM_001128223.2:c.258C>A p.Thr86= p.Thr86Thr 4 -20 5' 90.1175 8.94121 0.964341 4.93536 90.1175 8.94121 0.964341 5.06897 0 Krueppel-associated box rs79202307 yes no Frequency/1000G 2 G 0.000000 0 transversion C A C>A 0.000 -0.117 T Thr ACC 0.361 T Thr ACA 0.280 86 221 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.C258A:p.T86T . . . 0.21538462 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.1961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0034 . . . 0.23 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79202307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs79202307 rs79202307 1 1538 10 1/0 0,225,255 +rs76526276 3 75790447 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790447 75790447 Chr3(GRCh37):g.75790447G>A 257 257 NM_001128223.2:c.257C>T p.Thr86Ile p.Thr86Ile 4 -21 5' 90.1175 8.94121 0.964341 4.93536 90.1175 8.94121 0.964341 4.93816 0 Krueppel-associated box rs76526276 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.763 T Thr ACC 0.361 I Ile ATC 0.481 86 10 2 Northern white-cheeked gibbon -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0.04 IV.32 226 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.C257T:p.T86I . . . 0.23134328 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.043 . @ . . . . . 1 0.041 . . 134.0 . . . . . . . . . . -1.5383 -1.631 -1.538 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.481 . . exonic exonic exonic . . 0.042 @ . . . 0.22 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.215 . . 0.200 . . . 0.027 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.291 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.151 . . . . . 0.072 . 0.673 . HET 0.3 rs76526276 . . . . . . . . . . . . III.51 . . I.97 -3.64 . 0.490000 C9JSV9 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.756 -0.756000 . . 0.490000 . . 1.0000000000000001E-226 0.000 0.063 . 0.016 0.012 . 0.019 . 0.012 -0.756 -0.628 . . . rs76526276 rs76526276 1 1538 10 1/0 0,225,255 +rs78571006 3 75790466 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790466 75790466 Chr3(GRCh37):g.75790466G>T 238 238 NM_001128223.2:c.238C>A p.Pro80Thr p.Pro80Thr 4 -40 5' 90.1175 8.94121 0.964341 4.93536 90.1175 8.94121 0.964341 4.79467 0 Krueppel-associated box rs78571006 no no 0 G 0.000000 0 transversion C A C>A 0.008 0.609 P Pro CCA 0.274 T Thr ACA 0.280 80 10 2 Northern white-cheeked gibbon -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Deleterious 0 IV.32 241 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.C238A:p.P80T . . . 0.27659574 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.513 . @ . . . . . 1 0.601 . . 141.0 . . . . . . . . . . -0.4730 -0.618 -0.473 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.540 . . exonic exonic exonic . . 0.252 @ . . . 0.25 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.071 0.003 . . 37 . 0.516 . . 0.510 . . . 0.836 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.956 . . 0 0 0 0 0 0 . 0.314 . . 0.166 . . . . . . 1 0.912 . . . . . 0.177 . 0.689 . HET 0.18 rs78571006 0.076 0.065 . . . . . . . . . . V.12 . . I.97 I.97 . 0.120000 C9JSV9 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.988 . 1.127 1.127000 . . 0.120000 . . 1.0E-241 0.001 0.137 . 0.321 0.011 . 0.181 . 0.295 1.127 -0.628 0.076 . . rs78571006 rs112190249 1 1538 10 1/0 0,227,255 +rs79902868 3 75790479 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790479 75790479 Chr3(GRCh37):g.75790479C>T 225 225 NM_001128223.2:c.225G>A p.Glu75= p.Glu75Glu 4 41 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.26937 0.699025 4.58424 0 Krueppel-associated box rs79902868 no no 0 C 0.000000 0 transition G A G>A 0.992 1.416 E Glu GAG 0.583 E Glu GAA 0.417 75 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.G225A:p.E75E . . . 0.38513514 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 148.0 . . . . . . . . . . 0.5560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79902868 0.163 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs79902868 rs112692235 1 1538 10 1/0 0,236,255 +. 3 75790527 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790527 75790527 Chr3(GRCh37):g.75790527T>C 185-8 185-8 NM_001128223.2:c.185-8A>G p.? p.? 4 3 -8 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.27537 0.800246 4.82261 0.0484835 transition A G A>G 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.38297874 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 141.0 . . . . . . . . . . -0.2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs144222217 0.196 0.210 . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 . . rs75965304 rs144222217 1 1538 10 1/0 0,236,255 +rs80086365 3 75790542 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790542 75790542 Chr3(GRCh37):g.75790542G>T 185-23 185-23 NM_001128223.2:c.185-23C>A p.? p.? 4 3 -23 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.26937 0.699025 4.38523 0 rs80086365 no no 0 G 0.000000 0 transversion C A C>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.7518797 . . @ 100 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.1488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs80086365 0.435 0.428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.43 . . rs80086365 rs141840121 1 1538 10 1/0 0,252,248 +rs73843029 3 75790585 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790585 75790585 Chr3(GRCh37):g.75790585C>G 185-66 185-66 NM_001128223.2:c.185-66G>C p.? p.? 4 3 -66 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.26937 0.699025 4.52486 0 rs73843029 no no 0 C 0.000000 0 transversion G C G>C 0.039 1.416 251 PASS . . . . . . . . . . . . . . . . 0.61 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . -0.1902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73843029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . rs73843029 rs73843029 rs147758847 1 1538 10 1/0 0,255,255 +rs76935257 3 75790607 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790607 75790607 Chr3(GRCh37):g.75790607C>T 185-88 185-88 NM_001128223.2:c.185-88G>A p.? p.? 4 3 -88 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.26937 0.699025 4.49943 0 rs76935257 no no 0 C 0.000000 0 transition G A G>A 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.6888889 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . -0.2959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76935257 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 . . rs76935257 rs144075336 1 1538 10 1/0 0,255,255 +rs2918520 3 75790822 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790822 75790822 Chr3(GRCh37):g.75790822A>G 123 123 NM_001128223.2:c.123T>C p.Asp41= p.Asp41Asp 3 -62 5' 82.5488 8.73118 0.983642 4.37288 82.5488 8.73118 0.983642 4.61614 0 Krueppel-associated box rs2918520 yes no Frequency/HapMap 2 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60992 3946 6198 2428 2716 6356 29872 8298 1178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes transition T C T>C 0.000 -0.521 D Asp GAT 0.461 D Asp GAC 0.539 41 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.T123C:p.D41D . . . 0.24324325 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 148.0 . . . . . . . . . . -0.4428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.49 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs147081315 0.185 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . 0.18 rs2918520 rs2918520 rs2918520 rs147081315 1 1538 10 1/0 0,222,255 +rs75811170 3 75790837 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790837 75790837 Chr3(GRCh37):g.75790837C>A 108 108 NM_001128223.2:c.108G>T p.Trp36Cys p.Trp36Cys 3 51 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.59941 0 Krueppel-associated box rs75811170 no no 0 C 0.000000 0 transversion G T G>T 0.992 1.577 W Trp TGG 1.000 C Cys TGT 0.448 36 10 1 -5 -2 -5 0.13 II.75 5.IV 5.V 170 55 215 C0 353.86 0.00 Tolerated 0.08 IV.32 132 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.G108T:p.W36C . . . 0.23809524 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.763 . @ . . . . . 1 0.377 . . 147.0 . . . . . . . . . . 0.2921 0.018 0.292 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.102 . . exonic exonic exonic . . 0.205 @ . . . 0.58 0.46 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.467 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.179 0.007 . . 37 . 0.380 . . 0.391 . . . 0.944 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.998 . . 0 0 0 0 0 0 . 0.764 . . 0.764 . . . . . . 1 0.912 . . . . . 0.302 . 0.677 . HET 0 rs75811170 0.130 0.101 CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000066188.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066188.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066188.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000066188.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . 8.1688 . . I.27 I.27 . 0.000000 C9JSV9 . . . . . 0.192 . . . . . . . . . . . . . . . . . . . . . . 0.730 . 0.690 0.690000 . . 0.000000 . . 1.0E-132 0.946 0.326 . 0.266 0.467 . 0.408 . 0.278 0.690 0.542 0.13 . . rs75811170 . 1 1538 10 1/0 0,231,255 +rs73117241 3 75790860 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790860 75790860 Chr3(GRCh37):g.75790860C>G 85 85 NM_001128223.2:c.85G>C p.Val29Leu p.Val29Leu 3 28 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.23347 0 Krueppel-associated box rs73117241 no no 0 C 0.000000 0 transversion G C G>C 0.984 1.497 V Val GTG 0.468 L Leu CTG 0.404 29 10 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.36 IV.32 190 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.G85C:p.V29L . . . 0.20472442 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.531 . @ . . . . . 1 0.435 . . 127.0 . . . . . . . . . . -0.1828 -0.515 -0.183 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.041 . . exonic exonic exonic . . 0.197 @ . . . 0.54 0.41 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.083 0.004 . . 37 . 0.213 . . 0.027 . . . 0.838 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.612 . . 0 0 0 0 0 0 . 0.568 . . 0.636 . . . . . . 1 0.784 . . . . . 0.287 . 0.625 . HET 0.03 . . . . . . . . . . . . . VII.79 . . I.14 I.14 . 0.040000 C9JSV9 . . . . . 0.050 . . . . . . . . . . . . . . . . . . . . . . 0.498 . 0.607 0.607000 . . 0.040000 . . 1.0E-190 0.000 0.063 . 0.173 0.819 . 0.042 . 0.278 0.607 0.542 . . . . . 1 1538 10 1/0 0,227,255 +rs75271400 3 75790864 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790864 75790864 Chr3(GRCh37):g.75790864T>C 81 81 NM_001128223.2:c.81A>G p.Val27= p.Val27Val 3 24 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.97516 0 Krueppel-associated box rs75271400 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.969 -0.198 V Val GTA 0.114 V Val GTG 0.468 27 219 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.A81G:p.V27V . . . 0.21153846 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.3427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.46 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . rs75271400 rs75271400 1 1538 10 1/0 0,234,255 +rs77644642 3 75790867 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790867 75790867 Chr3(GRCh37):g.75790867C>A 78 78 NM_001128223.2:c.78G>T p.Glu26Asp p.Glu26Asp 3 21 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 II.77 0 Krueppel-associated box rs77644642 yes no Frequency 1 C 0.000000 0 0.000697 0.000190 0.000646 0.000921 0.000000 0.000342 0.001166 0.000290 0.000000 0.001166 28 1 2 1 0 1 21 2 0 40172 5276 3094 1086 1988 2926 18014 6890 898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 1 2 1 0 1 21 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.969 0.125 E Glu GAG 0.583 D Asp GAT 0.461 26 10 1 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.34 IV.32 197 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.G78T:p.E26D . . . 0.15315315 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.044 . . 111.0 . . . . . . . . . . -2.1209 -2.052 -2.121 c . . . . . 1.977e-03 . . . 0.0017 0.0008 0 0 0 0.0008 0 0.0009 0.0027 0.0007 0 0 0 0.0006 0 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.064 @ . . . 0.55 0.4 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.148 0.006 . . 37 . 0.001 . . 0.443 . . . 0.000 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 1 0.010 . . . . . 0.137 . 0.634 . HET 1 rs773440409 . . . . . . . . . . . . 5.0491 . . I.14 -2.29 . 1.000000 C9JSV9 . . . . . 0.016 . . . 0.0005 0.0009 0.0007 0.0010 0 0.0002 0.0015 0 0.0003 0 0.0003 0 0 0 0.0007 0.0004 0 . . 0.498 . -0.705 -0.705000 . . 1.000000 . . 1.0E-197 0.056 0.214 . 0.090 0.591 . 0.039 . 0.039 -0.705 -0.609 . . . rs77644642 rs77644642 1 1538 10 1/0 0,227,255 +rs78652530 3 75790870 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790870 75790870 Chr3(GRCh37):g.75790870C>T 75 75 NM_001128223.2:c.75G>A p.Glu25= p.Glu25Glu 3 18 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.321847 2.41661 -0.111328 New Acceptor Site 75790868 2.37257 0.044107 74.442 Krueppel-associated box rs78652530 yes no Frequency 1 C 0.000000 0 0.000526 0.000383 0.000355 0.000000 0.000000 0.000000 0.000870 0.000302 0.000000 0.000870 20 2 1 0 0 0 15 2 0 38000 5216 2820 878 1922 2456 17234 6616 858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 2 1 0 0 0 15 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.913 0.286 E Glu GAG 0.583 E Glu GAA 0.417 25 202 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.G75A:p.E25E . . . 0.16504854 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.1572 . . . . . . . . 1.201e-03 . . . 0.0018 0.0005 0 0 0 0 0 0.0012 0.0028 0.0005 0 0 0 0 0 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs760841671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0007 0.0004 0 0 0.0004 0.0012 0 0 0.0003 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs78652530 rs78652530 1 1538 10 1/0 0,231,255 +rs879013321 3 75790907 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790907 75790907 Chr3(GRCh37):g.75790907T>C 58-20 58-20 NM_001128223.2:c.58-20A>G p.? p.? 3 2 -20 3' 85.806 V.81 0.483242 2.43047 85.806 4.04615 0.550264 0 -0.0367882 rs879013321 no no 0 T 0.000000 0 transition A G A>G 0.717 0.205 196 PASS . . . . . . . . . . . ENSG00000227124:ENST00000400845:exon3:c.A17G:p.N6S . . . . 0.14851485 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . -0.8206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.43 . ENST00000400845 0.647 0.647 . 0.740000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.556 0.556000 . . 0.740000 . . 1.0E-196 . . . . . . . . . 0.556 . . . . . . 1 1538 10 1/0 0,230,255 +. 3 75790920 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790920 75790920 Chr3(GRCh37):g.75790920G>C 58-33 58-33 NM_001128223.2:c.58-33C>G p.? p.? 3 2 -33 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.04704 0 transversion C G C>G 0.984 0.125 227 PASS . . . . . . . . . . . ENSG00000227124:ENST00000400845:exon3:c.C4G:p.L2V . . . . 0.23308271 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.6080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.25 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . III.78 . ENST00000400845 0.647 0.647 . 0.140000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.666 0.666000 . . 0.140000 . . 1.0000000000000001E-227 . . . . . . . . . 0.666 . . . . rs75752644 rs75752644 1 1538 10 1/0 0,226,255 +rs796680022 3 75790921 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790921 75790921 Chr3(GRCh37):g.75790921C>A 58-34 58-34 NM_001128223.2:c.58-34G>T p.? p.? 3 2 -34 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.50628 0 Cryptic Donor Strongly Activated 75790927 0.003722 64.6084 1.43417 0.106505 69.6272 rs796680022 no no 0 C 0.000000 0 transversion G T G>T 0.992 0.286 195 PASS . . . . . . . . . . . ENSG00000227124:ENST00000400845:exon3:c.G3T:p.M1I . . . . 0.14615385 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.5412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . 3.0728 . ENST00000400845 0.647 0.647 . 0.090000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.666 0.666000 . . 0.090000 . . 9.999999999999999E-196 . . . . . . . . . 0.666 . . . . . . 1 1538 10 1/0 0,219,255 +rs77101234 3 75986813 T A - ROBO2 10250 Roundabout guidance receptor 2 NM_001290040.1 1 8884 4332 NP_001276969.1 substitution upstream GRCh37 75986813 75986813 Chr3(GRCh37):g.75986813T>A -1103124 -1103124 NM_001290040.1:c.-1103124T>A p.? p.? 1 602431 -1103185 5' 91.1822 11.0134 0.995718 II.03 91.1822 11.0134 0.995718 II.03 0 rs77101234 no no 0 T 0.000000 0 transversion T A T>A 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.60215056 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . 0.37 0.18 182 ENSG00000185008 ROBO2 . . . dist\x3d152079\x3bdist\x3d1102481 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs77101234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77101234 rs77101234 1 1538 10 1/0 0,255,255 +rs73123284 3 75986833 C T - ROBO2 10250 Roundabout guidance receptor 2 NM_001290040.1 1 8884 4332 NP_001276969.1 substitution upstream GRCh37 75986833 75986833 Chr3(GRCh37):g.75986833C>T -1103104 -1103104 NM_001290040.1:c.-1103104C>T p.? p.? 1 602431 -1103165 5' 91.1822 11.0134 0.995718 II.03 91.1822 11.0134 0.995718 II.03 0 Cryptic Acceptor Strongly Activated 75986844 2.07935 0.000425 66.8163 2.85199 0.00081 70.9182 rs73123284 yes no Frequency/1000G 2 C 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.5416667 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . 0.26 0.2 182 ENSG00000185008 ROBO2 . . . dist\x3d152099\x3bdist\x3d1102461 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs73123284 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73123284 rs73123284 rs73123284 1 1538 10 1/0 0,255,255 +rs75670471 3 75986858 T C - ROBO2 10250 Roundabout guidance receptor 2 NM_001290040.1 1 8884 4332 NP_001276969.1 substitution upstream GRCh37 75986858 75986858 Chr3(GRCh37):g.75986858T>C -1103079 -1103079 NM_001290040.1:c.-1103079T>C p.? p.? 1 602431 -1103140 5' 91.1822 11.0134 0.995718 II.03 91.1822 11.0134 0.995718 II.03 0 rs75670471 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 transition T C T>C 0.000 -0.117 217 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.20833333 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . 0.0002 . . . 0.31 0.17 182 ENSG00000185008 ROBO2 . . . dist\x3d152124\x3bdist\x3d1102436 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs75670471 0.196 0.254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . 0.2 . . rs75670471 rs75670471 1 1538 10 1/0 0,255,255 +rs79216754 3 75986863 C G - ROBO2 10250 Roundabout guidance receptor 2 NM_001290040.1 1 8884 4332 NP_001276969.1 substitution upstream GRCh37 75986863 75986863 Chr3(GRCh37):g.75986863C>G -1103074 -1103074 NM_001290040.1:c.-1103074C>G p.? p.? 1 602431 -1103135 5' 91.1822 11.0134 0.995718 II.03 91.1822 11.0134 0.995718 II.03 0 rs79216754 no no 0 C 0.000000 0 transversion C G C>G 0.000 -0.924 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . 0.23 0.17 182 ENSG00000185008 ROBO2 . . . dist\x3d152129\x3bdist\x3d1102431 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs79216754 0.196 0.254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . 0.2 . . rs79216754 rs79216754 1 1538 10 1/0 0,255,255 +. (chr3:80491250 G/A) 3 80491250 G A Not on a known gene +rs77357280 3 85434950 C T - CADM2 29849 Cell adhesion molecule 2 NM_153184.3 1 8960 1314 NP_694854.2 substitution upstream GRCh37 85434950 85434950 Chr3(GRCh37):g.85434950C>T -340682 -340682 NM_153184.3:c.-340682C>T p.? p.? 1 609938 -340749 5' 89.5524 9.59704 0.95928 5.44852 89.5524 9.59704 0.95928 5.44852 0 rs77357280 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.440 225 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.3030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.14 182 ENSG00000175161 CADM2 CADM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77357280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs77357280 rs77357280 1 1538 10 1.I 0,0,0 +rs77357280 3 85434950 C T - MIR5688 43463 MicroRNA 5688 NR_049870.1 1 83 0 substitution downstream GRCh37 85434950 85434950 Chr3(GRCh37):g.85434950C>T *8 *8 NR_049870.1:n.*8C>T p.? p.? 1 rs77357280 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.440 225 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.3030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.14 182 ENSG00000175161 CADM2 CADM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77357280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs77357280 rs77357280 1 1538 10 1.I 0,0,0 +. 3 85434950 C CGTT - CADM2 29849 Cell adhesion molecule 2 NM_153184.3 1 8960 1314 NP_694854.2 insertion upstream GRCh37 85434950 85434951 Chr3(GRCh37):g.85434950_85434951insGTT -340682 -340681 NM_153184.3:c.-340682_-340681insGTT p.? p.? 1 609938 -340748 5' 89.5524 9.59704 0.95928 5.44852 89.5524 9.59704 0.95928 5.44852 0 GTT 255 Pass . . . . . . . . . . . . . . . . 0.7307692 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000175161 CADM2 CADM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,14 +. 3 85434950 C CGTT - MIR5688 43463 MicroRNA 5688 NR_049870.1 1 83 0 insertion downstream GRCh37 85434950 85434951 Chr3(GRCh37):g.85434950_85434951insGTT *8 *9 NR_049870.1:n.*8_*9insGTT p.? p.? 1 GTT 255 Pass . . . . . . . . . . . . . . . . 0.7307692 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000175161 CADM2 CADM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,14 +. 3 89521838 T A - EPHA3 3387 EPH receptor A3 NM_005233.5 1 5809 2952 NP_005224.2 P29320 substitution intron GRCh37 89521838 89521838 Chr3(GRCh37):g.89521838T>A 2846+69 2846+69 NM_005233.5:c.2846+69T>A p.? p.? 16 16 179611 69 5' 73.2676 5.73188 0.739206 0 73.2676 5.73188 0.739206 0 0 transversion T A T>A 0.000 -1.247 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 6.0 . . INTRON(MODIFIER||||EPHA3|mRNA|CODING|NM_005233|) . . . . . . . -0.7882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000044524 EPHA3 EPHA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 3 89521840 T A - EPHA3 3387 EPH receptor A3 NM_005233.5 1 5809 2952 NP_005224.2 P29320 substitution intron GRCh37 89521840 89521840 Chr3(GRCh37):g.89521840T>A 2846+71 2846+71 NM_005233.5:c.2846+71T>A p.? p.? 16 16 179611 71 5' 73.2676 5.73188 0.739206 0 73.2676 5.73188 0.739206 0 0 transversion T A T>A 0.000 -1.247 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 6.0 . . INTRON(MODIFIER||||EPHA3|mRNA|CODING|NM_005233|) . . . . . . . -0.7757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000044524 EPHA3 EPHA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 3 89521841 G T - EPHA3 3387 EPH receptor A3 NM_005233.5 1 5809 2952 NP_005224.2 P29320 substitution intron GRCh37 89521841 89521841 Chr3(GRCh37):g.89521841G>T 2846+72 2846+72 NM_005233.5:c.2846+72G>T p.? p.? 16 16 179611 72 5' 73.2676 5.73188 0.739206 0 73.2676 5.73188 0.739206 0 0 transversion G T G>T 0.000 -0.117 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 6.0 . . INTRON(MODIFIER||||EPHA3|mRNA|CODING|NM_005233|) . . . . . . . -0.3439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000044524 EPHA3 EPHA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs62269700 3 97852058 A G - OR5H1 8346 Olfactory receptor, family 5, subfamily H, member 1 NM_001005338.1 1 942 942 NP_001005338.1 A6NKK0 substitution missense exon GRCh37 97852058 97852058 Chr3(GRCh37):g.97852058A>G 517 517 NM_001005338.1:c.517A>G p.Ile173Val p.Ile173Val 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs62269700 yes no Frequency 1 A 0.000000 0 0.001079 0.001206 0.000577 0.000206 0.000426 0.000034 0.000889 0.005210 0.000340 0.005210 272 25 18 2 7 1 104 113 2 252010 20726 31188 9724 16430 29328 117034 21690 5890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 272 25 18 2 7 1 104 113 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5915199 Skin 0.001623 1232 transition A G A>G 0.000 -0.360 I Ile ATA 0.163 V Val GTA 0.114 173 11 9 Cow 3 3 4 0 0 5.II 5.IX 111 84 29 C0 28.68 0.00 Tolerated 0.3 III.83 good 1.964E-1 0.001321 199 PASS . . . . . . . . . . . ENSG00000231192:ENST00000354565:exon1:c.A517G:p.I173V OR5H1:uc011bgt.2:exon1:c.A517G:p.I173V OR5H1:NM_001005338:exon1:c.A517G:p.I173V . . 0.1590909 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.050 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I173V|OR5H1|mRNA|CODING|NM_001005338|NM_001005338.ex.1) . . . . . . . -1.5525 -1.605 -1.553 c . . . . . 6.303e-03 . . . 0.0142 0.0065 0.0026 0.0097 0.0029 0.0081 0.0087 0.0009 0.0076 0.0020 0.0021 0.0048 0.0017 0.0011 0 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.001 . . exonic exonic exonic . . 0.042 @ . . . 0.15 0.14 182 ENSG00000231192 OR5H1 OR5H1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.276 . . . . . . . . . 37 . 0.001 . . 0.434 . . . 0.037 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.095 . . 0 0 0 0 0 0 . 0.144 . . 0.227 . . . . . . 0 0.040 . . . . . 0.136 . 0.052 . HET 0.52 rs62269700 . . . . . . . . . . . . 5.0254 5.39E-4 ENST00000354565 III.57 -3.64 . 1.000000 A6NKK0 . . . . . 0.028 . . . 0.0015 0.0012 0.0006 0.0002 0.0005 0.0059 0.0010 0.0004 3.41e-05 0.0006 0.0004 0 0 0 0.0009 0.0002 0 . . 0.133 . -1.039 -1.039000 . . 1.000000 . . 1.0E-199 0.000 0.063 . 0.341 0.608 . 0.035 . 0.080 -1.039 0.069 . rs62269700 rs62269700 rs62269700 rs62269700 1 1538 10 1/0 0,255,255 +rs62269701 3 97852066 T C - OR5H1 8346 Olfactory receptor, family 5, subfamily H, member 1 NM_001005338.1 1 942 942 NP_001005338.1 A6NKK0 substitution synonymous exon GRCh37 97852066 97852066 Chr3(GRCh37):g.97852066T>C 525 525 NM_001005338.1:c.525T>C p.His175= p.His175His 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs62269701 yes no Frequency 1 T 0.000000 0 0.001081 0.002753 0.000482 0.000103 0.000365 0.000034 0.000760 0.004848 0.000000 0.004848 271 54 15 1 6 1 89 105 0 250736 19614 31102 9714 16420 29286 117062 21660 5878 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 271 54 15 1 6 1 89 105 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.685 0.205 H His CAT 0.413 H His CAC 0.587 175 196 PASS . . . . . . . . . . . ENSG00000231192:ENST00000354565:exon1:c.T525C:p.H175H OR5H1:uc011bgt.2:exon1:c.T525C:p.H175H OR5H1:NM_001005338:exon1:c.T525C:p.H175H . . 0.1521739 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|caT/caC|H175|OR5H1|mRNA|CODING|NM_001005338|NM_001005338.ex.1) . . . . . . . 0.4023 . . . . . . . . 6.682e-03 . . . 0.0185 0.0070 0.0025 0.0097 0.0030 0.0082 0.0102 0.0009 0.0098 0.0021 0.0021 0.0048 0.0017 0.0011 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.16 182 ENSG00000231192 OR5H1 OR5H1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62269701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0011 0.0005 0.0001 0.0004 0.0055 0.0009 0 3.415e-05 0.0029 0.0009 0 0 0 0.0009 7.213e-05 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs62269701 rs62269701 rs62269701 rs62269701 1 1538 10 1/0 0,255,255 +rs200654905 3 98188554 T C - OR5K1 8349 Olfactory receptor, family 5, subfamily K, member 1 NM_001004736.3 1 1097 927 NP_001004736.2 Q8NHB7 substitution missense exon GRCh37 98188554 98188554 Chr3(GRCh37):g.98188554T>C 134 134 NM_001004736.3:c.134T>C p.Leu45Ser p.Leu45Ser 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs200654905 yes no Frequency/1000G 2 T 0.000000 0 0.002995 0.000800 0.003100 0.000000 0.007000 0.005800 0.006978 0.000708 0.004368 0.001478 0.000000 0.003184 0.010890 0.007871 0.010984 0.010890 1933 17 150 15 0 98 1379 203 71 277010 24026 34342 10148 18828 30780 126632 25790 6464 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 7 0 0 0 0 0 7 0 0 1919 17 150 15 0 98 1365 203 71 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8497 4401 12898 101 5 106 0.0117469 0.00113482 0.00815134 0.0117469 0.00113482 0.00815134 219 transition T C T>C 0.150 2.788 L Leu TTG 0.127 S Ser TCG 0.056 45 11 10 Armadillo -3 -2 -4 0 I.42 4.IX 9.II 111 32 145 C55 14.30 134.86 Deleterious 0 IV.32 255 PASS . 0.0032 0.01 . 0.004 0.0008 0.003 0.0058 . 0.007 0.0031 ENSG00000232382:ENST00000332650:exon1:c.T134C:p.L45S OR5K1:uc003dsm.3:exon1:c.T134C:p.L45S OR5K1:NM_001004736:exon1:c.T134C:p.L45S . . 0.45701358 . . @ 101 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.209 . @ . . . . . 1 0.573 . . 221.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tCg|L45S|OR5K1|mRNA|CODING|NM_001004736|NM_001004736.ex.1) 0.0011 0.0082 0.012 0.0011 0.0082 0.012 . -0.0037 -0.173 -0.004 c . . . . . 6.511e-03 . . . 0.0011 0.0063 0.0034 0 0.0066 0.0103 0.0084 0.0034 0.0007 0.0060 0.0034 0 0.0071 0.0089 0.0072 0.0034 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.457 0.0030 . . . 0.34 0.3 182 ENSG00000232382 OR5K1 OR5K1 . . . 0.070 0.155 . 481 0.00740273 64976 466 0.00776848 59986 Uncertain_significance . 0 . 0.202 . . . . . . . . . 37 . 0.011 . . 0.231 . . . 0.930 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.878 . . 0 0 0 0 0 0 . 0.497 . . 0.535 . . . . . . 0 0.912 . . . . . 0.438 . 0.321 . HET 0 rs200654905 . . . . . . . 0.003205128205128205 0.0 0.011049723756906077 0.0 0.00395778364116095 10.501 5.35E-4 ENST00000332650 V.18 4.I . 0.000000 Q8NHB7 . . . 0.008151 . 0.540 . . 4.I 0.0007 0.0069 0.0043 0.0015 0 0.0081 0.0106 0.0111 0.0032 0.0007 0.0078 0.0060 0 0 0.0063 0.0131 0.0102 . . 0.133 . 0.800 0.800000 . . 0.000000 . . 1.0E-255 0.583 0.274 . 0.043 0.113 . 0.597 . 0.212 0.800 0.991 0.012 . . rs200654905 rs200654905 1 1538 10 1/0 0,221,242 +rs192862595 3 100023651 G A - TBC1D23 25622 TBC1 domain family, member 23 NM_001199198.2 1 3886 2100 NP_001186127.1 Q9NUY8 substitution intron GRCh37 100023651 100023651 Chr3(GRCh37):g.100023651G>A 1264-39 1264-39 NM_001199198.2:c.1264-39G>A p.? p.? 12 11 617687 -39 3' 91.2668 9.29613 0.961567 2.15828 91.2668 9.29613 0.961567 2.11892 0 rs192862595 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000583 0.000127 0.000249 0.000000 0.000000 0.000035 0.001145 0.000040 0.000483 0.001145 154 3 8 0 0 1 138 1 3 264126 23552 32144 9928 18138 28580 120508 25064 6212 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 152 3 8 0 0 1 136 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4402 12985 9 0 9 0.00104749 0 0.000692627 0.00104749 0 0.000692627 47 transition G A G>A 0.000 0.044 233 PASS . 0.0009 . . 0.0026 . 0.0002 . . 0.001 . . . . . . 0.2631579 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . 0.0007 0.001 . 0.0007 0.001 . -0.0022 . . . . . . . . 6.712e-04 . . . 0.0001 0.0005 9.602e-05 0 0.0003 0.0011 0 6.564e-05 0.0001 0.0007 9.895e-05 0 0.0002 0.0014 0 6.602e-05 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.43 0.2 182 ENSG00000036054 TBC1D23 TBC1D23 . . . . . . 31 0.000477099 64976 30 0.000500117 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192862595 . . . . . . . . . . . . . . . . . . . . . . . 0.000693 . . . . . 6.746e-05 0.0006 0.0003 0 0 4.636e-05 0.0012 0.0004 3.499e-05 0.0002 0.0006 0 0 0 0 0.0011 0.0010 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . 0.0026 . . rs192862595 rs192862595 1 1538 10 1/0 0,255,255 +. 3 111904697 A G - SLC9C1 31401 Solute carrier family 9 member C1 NM_183061.2 -1 4154 3534 NP_898884.1 Q4G0N8 substitution intron GRCh37 111904697 111904697 Chr3(GRCh37):g.111904697A>G 2524-3592 2524-3592 NM_183061.2:c.2524-3592T>C p.? p.? 21 20 612738 -3592 3' 81.7486 8.81814 0.920486 2.65334 81.7486 8.81814 0.920486 2.65334 0 transition T C T>C 0.000 -14.080 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||SLC9C1|mRNA|CODING|NM_183061|) . . . . . . . 0.0292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000244144 SLC9C1 SLC9C1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv10307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs80289672 3 121351315 G A - HCLS1 4844 Hematopoietic cell-specific Lyn substrate 1 NM_005335.5 -1 2038 1461 NP_005326.2 P14317 substitution synonymous exon GRCh37 121351315 121351315 Chr3(GRCh37):g.121351315G>A 1104 1104 NM_005335.5:c.1104C>T p.Pro368= p.Pro368Pro 12 601306 96 3' 90.1171 X.42 0.991141 VIII.39 90.1171 X.42 0.991141 VIII.39 0 rs80289672 yes no Frequency/1000G 2 G 0.000000 0 0.000195 0.000000 0.000000 0.000000 0.000000 0.000000 0.000403 0.000000 0.000000 0.000403 6 0 0 0 0 0 6 0 0 30734 8668 832 300 1602 0 14882 3480 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes COSM1418167|COSM1418167 Large intestine|Haematopoietic and lymphoid tissue 0.003138|0.000567 2231|3530 transition C T C>T 0.000 -1.570 P Pro CCC 0.328 P Pro CCT 0.283 368 205 PASS 0.08 0.09 0.04 0.12 0.09 . . . . . . . . . . . 0.171875 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . . . . . . . . . 0.1087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.59 182 ENSG00000180353 HCLS1 HCLS1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs80289672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . 0.12 . . rs80289672 rs80289672 1 1538 10 1/0 0,205,255 +rs370408322 3 122255004 T C - PARP9 24118 Poly (ADP-ribose) polymerase family, member 9 NM_001146102.1 -1 3164 2565 NP_001139574.1 Q8IXQ6 substitution intron GRCh37 122255004 122255004 Chr3(GRCh37):g.122255004T>C 2185+11 2185+11 NM_001146102.1:c.2185+11A>G p.? p.? 10 10 612065 11 5' 77.9504 9.00165 0.945696 5.40391 77.9504 9.00165 0.945696 5.77275 0 rs370408322 yes no Frequency 1 T 0.000000 0 0.000144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000284 0.000039 0.000464 0.000284 40 0 0 0 0 0 36 1 3 277184 24020 34416 10152 18870 30782 126690 25788 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 0 0 0 0 0 36 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 181 transition A G A>G 0.126 0.932 255 PASS . . . . . . . . . . . ENSG00000138496:ENST00000462315:exon10:c.A2091G:p.Q697Q PARP9:uc003efj.2:exon10:c.A2091G:p.Q697Q PARP9:NM_001146106:exon10:c.A2091G:p.Q697Q . . 0.46153846 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.5710 . . . . . . . . 1.973e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 0.0002 0 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.32 182 ENSG00000138496 PARP9 PARP9 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . rs370408322 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv877391 0.000077 . . . . III.42 0 0.0001 0 0 0 4.485e-05 0.0003 0.0005 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs370408322 rs370408322 1 1538 10 1/0 0,255,255 +rs538366269 3 125695687 G A - ROPN1B 31927 Rhophilin associated tail protein 1B NM_001012337.2 1 1042 639 NP_001012337.1 Q9BZX4 substitution intron GRCh37 125695687 125695687 Chr3(GRCh37):g.125695687G>A 235-160 235-160 NM_001012337.2:c.235-160G>A p.? p.? 4 3 -160 3' 83.559 X.26 0.942639 14.4075 83.559 X.26 0.942639 14.4075 0 rs538366269 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.002297 0.007828 0.000000 0.000000 0.000000 0.000000 0.000210 0.000000 0.000000 0.007828 68 65 0 0 0 0 3 0 0 29602 8304 818 292 1568 0 14264 3414 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 65 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition G A G>A 0.000 0.125 221 PASS . . . . . 0.003 0.0008 . . . . . . . . . 0.21518987 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 158.0 . . . . . . . . . . -0.2450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . 0.0008 . . . 0.43 0.34 182 ENSG00000114547 ROPN1B ROPN1B ENST00000511082:c.-202G>A uc010hsc.3:c.-202G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs538366269 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0078 0.0023 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs2292075 rs2292075 rs2292075 rs2292075 1 1538 10 1/0 0,217,255 +rs149838873 3 126751667 G A - PLXNA1 9099 Plexin A1 NM_032242.3 1 9066 5691 NP_115618.3 Q9UIW2 substitution synonymous exon GRCh37 126751667 126751667 Chr3(GRCh37):g.126751667G>A 5583 5583 NM_032242.3:c.5583G>A p.Lys1861= p.Lys1861Lys 30 601055 -13 5' 74.6528 4.07208 0.165182 11.1711 74.6528 4.07208 0.165182 XI.19 0 Plexin, cytoplasmic RasGAP domain rs149838873 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.004383 0.000758 0.000321 0.000000 0.000000 0.000033 0.007338 0.009452 0.003454 0.009452 1191 18 11 0 0 1 897 242 22 271742 23754 34300 9980 18820 30676 122238 25604 6370 0.000052 0.000084 0.000000 0.000000 0.000000 0.000000 0.000082 0.000078 0.000000 7 1 0 0 0 0 5 1 0 1177 16 11 0 0 1 887 240 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4403 12947 56 3 59 0.00651163 0.00068089 0.00453637 0.00651163 0.00068089 0.00453637 75 transition G A G>A 1.000 1.820 K Lys AAG 0.575 K Lys AAA 0.425 1861 255 PASS . 0.0027 0.0028 . 0.01 . 0.0014 0.0014 . 0.006 . . . PLXNA1:NM_032242:exon30:c.G5583A:p.K1861K . . 0.5 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 106.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1861|PLXNA1|mRNA|CODING|NM_032242|NM_032242.ex.30) 0.0007 0.0045 0.0065 0.0007 0.0045 0.0065 . I.07 . . . . . . . . 4.581e-03 . . . 0.0007 0.0024 0.0003 0 0.0066 0.0043 0.0015 0 0.0008 0.0047 0.0003 0 0.0071 0.0080 0.0043 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.46 0.32 182 ENSG00000114554 PLXNA1 PLXNA1 . . . . . . 405 0.00623307 64976 398 0.00663488 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149838873 . . . . . . . . . . . . . . . . . . . . . . . 0.004536 . . . . III.53 0.0007 0.0044 0.0003 0 0 0.0094 0.0076 0.0033 3.26e-05 0.0008 0.0041 0 0 0 0.0097 0.0054 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149838873 rs149838873 1 1538 10 1/0 0,255,255 +. 3 127410956 TTTG T - MGLL 17038 Monoglyceride lipase NM_007283.6 -1 4642 942 NP_009214.1 deletion 3'UTR GRCh37 127410957 127410959 Chr3(GRCh37):g.127410957_127410959del *82 *84 NM_007283.6:c.*82_*84del p.? p.? 8 609699 208 3' 86.594 XI.17 0.958241 10.1705 86.594 XI.17 0.958241 10.1705 0 0.008949 0.028098 0.008152 0.000000 0.000000 0.000000 0.000891 0.005310 0.003817 0.028098 223 190 6 0 0 0 11 13 3 24920 6762 736 258 1578 0 12352 2448 786 0.013453 0.015789 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 3 0 0 0 0 0 0 0 217 184 6 0 0 0 11 13 3 0 0 0 0 0 0 0 0 0 PASS 45 Genomes CAA 255 Pass . . . . . . . . . . . . . . . . 0.6304348 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000074416 MGLL MGLL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0281 0.0089 0.0082 0 0 0.0053 0.0009 0.0038 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,43,255 +rs755551284 3 129280625 C G - PLXND1 9107 Plexin D1 NM_015103.2 -1 6977 5778 NP_055918.2 Q9Y4D7 substitution intron GRCh37 129280625 129280625 Chr3(GRCh37):g.129280625C>G 4929+18 4929+18 NM_015103.2:c.4929+18G>C p.? p.? 28 28 604282 18 5' 67.3753 3.97084 0.303721 9.91824 67.3753 3.97084 0.303721 X.47 0 rs755551284 yes no Frequency 1 C 0.000000 0 0.003570 0.000530 0.009746 0.002136 0.006208 0.012664 0.001418 0.001254 0.007147 0.012664 569 8 148 10 66 180 114 20 23 159382 15090 15186 4682 10632 14214 80410 15950 3218 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 569 8 148 10 66 180 114 20 23 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.570 199 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||PLXND1|mRNA|CODING|NM_015103|) . . . . . . . -0.0989 . . . . . . . . 3.083e-04 . . . 0.0001 0.0004 0.0001 0 0 0.0002 0 0.0020 0 0.0003 0.0001 0.0003 0 0.0001 0.0023 0.0020 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004399 PLXND1 PLXND1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755551284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0038 0.0099 0.0022 0.0070 0.0012 0.0014 0.0081 0.0127 0.0012 0.0011 0 0 0 0.0025 0.0011 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs760462327 3 132319393 T C - ACAD11 30211 Acyl-CoA dehydrogenase family, member 11 NM_032169.4 -1 3556 2343 NP_115545.3 Q709F0 substitution intron GRCh37 132319393 132319393 Chr3(GRCh37):g.132319393T>C 1621+2680 1621+2680 NM_032169.4:c.1621+2680A>G p.? p.? 13 13 614288 2680 5' 84.0719 8.94615 0.976502 4.56387 84.0719 8.94615 0.976502 4.56387 0 rs760462327 yes no Frequency 1 C 0.000000 0 0.000439 0.000893 0.000566 0.000102 0.000112 0.000000 0.000387 0.000897 0.001003 0.000897 115 20 17 1 2 0 47 22 6 261902 22404 30036 9760 17882 30006 121296 24536 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 20 17 1 2 0 47 22 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4157273|COSM4157273|COSM4157273 Thyroid|Pancreas|Haematopoietic and lymphoid tissue 0.001339|0.000566|0.000567 747|1766|3530 transition A G A>G 0.984 3.353 175 PASS . . . . . . . . . . . ENSG00000129048:ENST00000249887:exon2:c.T152C:p.V51A . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.163 . . 67.0 . . . . . . . . . . -0.6388 -0.438 -0.639 c . . . . . 7.104e-04 . . . 0.0003 0.0006 0.0005 0.0005 0 0.0008 0 0.0004 0.0002 0.0002 0.0004 0.0001 0 0.0001 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.779 @ . . . 0.42 0.43 182 ENSG00000129048 CCRL1 ACKR4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.292 . . . . T 0.133 0.005 . . 37 . 0.249 . . 0.129 . . . 0.051 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.360 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.023 . . . . . 0.663 . 0.270 . LowAF 0.77 rs760462327 . . . . . . . . . . . . 14.3718 . . 5.IV 5.IV . 0.570000 Q9NPB9 . . . . . 0.172 . . 5.IV 0 3.387e-05 0.0002 0 0 0 2.76e-05 0 0 0.0027 0.0042 0.0209 0.0040 0.0014 0.0084 0.0035 0.0077 . . 0.283 . 1.299 1.299000 . . 0.570000 . . 1.0E-175 0.995 0.385 . 0.266 0.145 . 0.472 . 0.155 1.299 0.002 . rs56267415 rs56267415 rs56267415 rs56267415 1 1538 10 1/0 0,243,255 +rs760462327 3 132319393 T C - ACKR4 1611 Atypical chemokine receptor 4 NM_016557.3 1 2343 1053 NP_057641.1 Q9NPB9 substitution missense exon GRCh37 132319393 132319393 Chr3(GRCh37):g.132319393T>C 152 152 NM_016557.3:c.152T>C p.Val51Ala p.Val51Ala 2 606065 161 3' 82.3404 7.86459 0.936128 4.14729 82.3404 7.86459 0.936128 4.14729 0 GPCR, rhodopsin-like, 7TM CXC chemokine receptor, type 4 rs760462327 yes no Frequency 1 C 0.000000 0 0.000439 0.000893 0.000566 0.000102 0.000112 0.000000 0.000387 0.000897 0.001003 0.000897 115 20 17 1 2 0 47 22 6 261902 22404 30036 9760 17882 30006 121296 24536 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 20 17 1 2 0 47 22 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4157273|COSM4157273|COSM4157273 Thyroid|Pancreas|Haematopoietic and lymphoid tissue 0.001339|0.000566|0.000567 747|1766|3530 transition T C T>C 0.984 3.353 V Val GTT 0.178 A Ala GCT 0.263 51 18 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 85.32 0.00 Tolerated 1 III.63 175 PASS . . . . . . . . . . . ENSG00000129048:ENST00000249887:exon2:c.T152C:p.V51A . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.163 . . 67.0 . . . . . . . . . . -0.6388 -0.438 -0.639 c . . . . . 7.104e-04 . . . 0.0003 0.0006 0.0005 0.0005 0 0.0008 0 0.0004 0.0002 0.0002 0.0004 0.0001 0 0.0001 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.779 @ . . . 0.42 0.43 182 ENSG00000129048 CCRL1 ACKR4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.292 . . . . T 0.133 0.005 . . 37 . 0.249 . . 0.129 . . . 0.051 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.360 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.023 . . . . . 0.663 . 0.270 . LowAF 0.77 rs760462327 . . . . . . . . . . . . 14.3718 . . 5.IV 5.IV . 0.570000 Q9NPB9 . . . . . 0.172 . . 5.IV 0 3.387e-05 0.0002 0 0 0 2.76e-05 0 0 0.0027 0.0042 0.0209 0.0040 0.0014 0.0084 0.0035 0.0077 . . 0.283 . 1.299 1.299000 . . 0.570000 . . 1.0E-175 0.995 0.385 . 0.266 0.145 . 0.472 . 0.155 1.299 0.002 . rs56267415 rs56267415 rs56267415 rs56267415 1 1538 10 1/0 0,243,255 +rs760462327 3 132319393 T C - NPHP3-ACAD11 48351 NPHP3-ACAD11 readthrough (NMD candidate) NR_037804.1 -1 7788 0 substitution intron GRCh37 132319393 132319393 Chr3(GRCh37):g.132319393T>C 5623+2680 5623+2680 NR_037804.1:n.5623+2680A>G p.? p.? 39 39 2680 5' 84.0719 8.94615 0.976502 4.56387 84.0719 8.94615 0.976502 4.56387 0 rs760462327 yes no Frequency 1 C 0.000000 0 0.000439 0.000893 0.000566 0.000102 0.000112 0.000000 0.000387 0.000897 0.001003 0.000897 115 20 17 1 2 0 47 22 6 261902 22404 30036 9760 17882 30006 121296 24536 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 20 17 1 2 0 47 22 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4157273|COSM4157273|COSM4157273 Thyroid|Pancreas|Haematopoietic and lymphoid tissue 0.001339|0.000566|0.000567 747|1766|3530 transition A G A>G 0.984 3.353 175 PASS . . . . . . . . . . . ENSG00000129048:ENST00000249887:exon2:c.T152C:p.V51A . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.163 . . 67.0 . . . . . . . . . . -0.6388 -0.438 -0.639 c . . . . . 7.104e-04 . . . 0.0003 0.0006 0.0005 0.0005 0 0.0008 0 0.0004 0.0002 0.0002 0.0004 0.0001 0 0.0001 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.779 @ . . . 0.42 0.43 182 ENSG00000129048 CCRL1 ACKR4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.292 . . . . T 0.133 0.005 . . 37 . 0.249 . . 0.129 . . . 0.051 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.360 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.023 . . . . . 0.663 . 0.270 . LowAF 0.77 rs760462327 . . . . . . . . . . . . 14.3718 . . 5.IV 5.IV . 0.570000 Q9NPB9 . . . . . 0.172 . . 5.IV 0 3.387e-05 0.0002 0 0 0 2.76e-05 0 0 0.0027 0.0042 0.0209 0.0040 0.0014 0.0084 0.0035 0.0077 . . 0.283 . 1.299 1.299000 . . 0.570000 . . 1.0E-175 0.995 0.385 . 0.266 0.145 . 0.472 . 0.155 1.299 0.002 . rs56267415 rs56267415 rs56267415 rs56267415 1 1538 10 1/0 0,243,255 +rs141527637 3 133664101 T C - SLCO2A1 10955 Solute carrier organic anion transporter family, member 2A1 NM_005630.2 -1 4223 1932 NP_005621.2 Q92959 substitution synonymous exon GRCh37 133664101 133664101 Chr3(GRCh37):g.133664101T>C 1299 1299 NM_005630.2:c.1299A>G p.Thr433= p.Thr433Thr 10 601460 4 3' 88.2063 7.02822 0.698649 8.43684 88.2063 7.02822 0.782602 8.88357 0.0400549 Organic anion transporter polypeptide OATP Major facilitator superfamily domain rs141527637 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000181 0.000126 0.000252 0.000000 0.000000 0.000036 0.000278 0.000000 0.000326 0.000278 48 3 8 0 0 1 34 0 2 264812 23768 31722 9246 18284 28102 122462 25092 6136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 3 8 0 0 1 34 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 111 transition A G A>G 1.000 2.062 T Thr ACA 0.280 T Thr ACG 0.116 433 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . ENSG00000174640:ENST00000481359:exon9:c.A1109G:p.H370R . SLCO2A1:NM_005630:exon10:c.A1299G:p.T433T . . 0.5463917 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T433|SLCO2A1|mRNA|CODING|NM_005630|NM_005630.ex.10) . 0.0002 0.0003 . 0.0002 0.0003 . 2.1024 . . . . . . . . 1.579e-04 . . . 0 0.0002 0.0002 0 0 0.0003 0 0 0 0.0002 0.0002 0 0 0.0003 0 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.33 0.6 182 ENSG00000174640 SLCO2A1 SLCO2A1 . . . . . . 14 0.000215464 64976 13 0.000216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141527637 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . IV.48 0.0001 0.0002 0.0003 0 0 0 0.0003 0.0004 3.558e-05 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs141527637 rs141527637 1 1538 10 1/0 0,255,255 +rs201797879 3 133748570 G A - SLCO2A1 10955 Solute carrier organic anion transporter family, member 2A1 NM_005630.2 -1 4223 1932 NP_005621.2 Q92959 substitution missense exon GRCh37 133748570 133748570 Chr3(GRCh37):g.133748570G>A 77 77 NM_005630.2:c.77C>T p.Ser26Leu p.Ser26Leu 1 601460 -20 5' 89.5524 9.59704 0.991071 XI.48 89.5524 9.59704 0.991071 X.31 0 Organic anion transporter polypeptide OATP Major facilitator superfamily domain rs201797879 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.002684 0.000538 0.000900 0.000000 0.000000 0.000546 0.004772 0.003049 0.002891 0.004772 620 10 29 0 0 15 490 60 16 231030 18582 32206 8976 15864 27496 102692 19680 5534 0.000035 0.000000 0.000062 0.000000 0.000000 0.000000 0.000058 0.000000 0.000000 4 0 1 0 0 0 3 0 0 612 10 27 0 0 15 484 60 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7906 3926 11832 30 0 30 0.00378024 0 0.00252908 0.00378024 0 0.00252908 7 transition C T C>T 0.291 1.981 S Ser TCG 0.056 L Leu TTG 0.127 26 15 8 Cow -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Deleterious 0.03 III.37 bad 5.969E-5 0.0006768 255 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . SLCO2A1:NM_005630:exon1:c.C77T:p.S26L . . 0.54545456 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.602 . @ . . . . . 1 0.817 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S26L|SLCO2A1|mRNA|CODING|NM_005630|NM_005630.ex.1) . 0.0025 0.0038 . 0.0025 0.0038 . -0.3110 -0.270 -0.311 c . . . . . 2.144e-03 . . . 0.0006 0.0042 0.0025 0 0.0071 0.0085 0 0.0004 0.0007 0.0037 0.0028 0 0.0082 0.0059 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.542 . . exonic exonic exonic . . 0.338 0.0004 . . . 0.19 0.34 182 ENSG00000174640 SLCO2A1 SLCO2A1 . . . 1.000 0.416 . 136 0.00209308 64976 136 0.0022672 59986 Uncertain_significance . 0 . 0.080 . . . . D 0.865 0.196 . . 37 . 0.384 . . 0.227 . . . 0.145 0.199 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.501 . . 0 0 0 0 0 0 . 0.647 . . 0.475 . . . . . . 0 0.433 . . . . . 0.388 . 0.479 . HET 0.03 rs201797879 . . . . . . . . . . . . IX.91 0.0 . 3.II 3.II . 0.150000 . . . Name\x3dnsv877509 0.002529 . 0.319 . . 3.II 0.0006 0.0024 0.0009 0 0 0.0031 0.0043 0.0026 0.0005 0.0005 0.0043 0.0012 0 0 0.0026 0.0077 0.0041 . . 0.486 . 1.680 1.680000 . . 0.150000 . . 1.0E-255 0.997 0.399 . 0.288 0.639 . 0.587 . 0.324 1.680 0.917 0.0038 . . rs201797879 rs201797879 1 1538 10 1/0 0,255,255 +rs764308882 3 138043862 C A - NME9 21343 NME/NM23 family member 9 NM_001349018.1 -1 2180 993 NP_001335947.1 Q86XW9 substitution intron GRCh37 138043862 138043862 Chr3(GRCh37):g.138043862C>A 34-90 34-90 NM_001349018.1:c.34-90G>T p.? p.? 2 1 -90 3' 85.6325 X.35 0.987647 3.28428 85.6325 X.35 0.987647 3.28428 0 rs764308882 yes no Frequency 1 C 0.000000 0 0.000129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000267 0.000000 0.000000 0.000267 4 0 0 0 0 0 4 0 0 30956 8720 838 302 1616 0 15006 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion G T G>T 0.000 1.497 255 PASS . . . . . . . . . . . . . . . . 0.61403507 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||NME9|mRNA|CODING|NM_178130|) . . . . . . . 0.4920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000181322 NME9 NME9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs764308882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.55 . . . . . . . . . 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs189455154 3 138178103 G A - ESYT3 24295 Extended synaptotagmin like protein 3 NM_001322831.1 1 5093 2661 NP_001309760.1 A0FGR9 substitution intron GRCh37 138178103 138178103 Chr3(GRCh37):g.138178103G>A 648+8 648+8 NM_001322831.1:c.648+8G>A p.? p.? 5 5 616692 8 5' 85.557 8.56441 0.804788 9.83299 85.557 8.56441 0.892076 10 0.0361536 rs189455154 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000800 0.005100 0.001000 0.004000 0.000000 0.002923 0.000396 0.000721 0.000329 0.002878 0.006742 0.002467 0.006894 0.002937 0.006894 741 9 22 3 47 181 289 173 17 253550 22704 30534 9126 16330 26848 117124 25096 5788 0.000032 0.000000 0.000000 0.000000 0.000000 0.000149 0.000017 0.000080 0.000000 4 0 0 0 0 2 1 1 0 733 9 22 3 47 177 287 171 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4404 12984 20 2 22 0.00232558 0.000453926 0.00169153 0.00232558 0.000453926 0.00169153 94 transition G A G>A 0.000 -0.117 255 PASS . 0.0018 . . 0.01 0.0008 0.0022 . 0.001 0.004 0.0051 . . . . . 0.5744681 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 94.0 . . INTRON(MODIFIER||||ESYT3|mRNA|CODING|NM_031913|) 0.0005 0.0017 0.0023 0.0005 0.0017 0.0023 . 0.2080 . . . . . . . . 2.748e-03 . . . 0.0008 0.0030 0.0007 0.0021 0.0074 0.0025 0.0046 0.0069 0.0007 0.0028 0.0007 0.0024 0.0073 0.0021 0.0047 0.0068 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.34 0.35 182 ENSG00000158220 ESYT3 ESYT3 . . . . . . 185 0.00284721 64976 174 0.00290068 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189455154 . . . . . . . . . . . . . . . . . . . . 0.0002 0.002 . 0.001692 . . . . . 0.0006 0.0030 0.0007 0.0003 0.0029 0.0069 0.0024 0.0025 0.0067 0 0.0026 0.0012 0 0.0031 0.0072 0.0030 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189455154 rs189455154 1 1538 10 1/0 0,255,255 +rs73238166 3 142090063 A G - XRN1 30654 5'-3' exoribonuclease 1 NM_019001.4 -1 10143 5121 NP_061874.3 Q8IZH2 substitution intron GRCh37 142090063 142090063 Chr3(GRCh37):g.142090063A>G 3068+18 3068+18 NM_019001.4:c.3068+18T>C p.? p.? 26 26 607994 18 5' 81.1326 VIII.68 0.990326 0 81.1326 VIII.68 0.990326 0 0 rs73238166 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000800 0.002000 0.000000 0.005000 0.005800 0.004316 0.001545 0.002242 0.001487 0.000000 0.001620 0.007593 0.001140 0.003597 0.007593 1186 37 76 15 0 49 957 29 23 274780 23948 33894 10086 18736 30242 126034 25446 6394 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1178 37 76 15 0 49 949 29 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4397 12922 69 7 76 0.00802886 0.00158946 0.00584705 0.00802886 0.00158946 0.00584705 76 transition T C T>C 0.000 -0.360 230 PASS 0.002 0.0027 0.0028 . 0.01 0.0008 0.0024 0.0058 . 0.005 0.002 . . . . . 0.25 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . 0.0016 0.0058 0.008 0.0016 0.0058 0.008 . 0.4283 . . . . . . . . 4.421e-03 . . . 0.0014 0.0044 0.0031 0 0.0008 0.0077 0.0014 0.0014 0.0014 0.0041 0.0030 0 0.0014 0.0066 0.0015 0.0015 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.52 0.14 182 ENSG00000114127 XRN1 XRN1 . . . . . . 329 0.00506341 64976 317 0.00528457 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73238166 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.005847 . . . . . 0.0014 0.0043 0.0023 0.0015 0 0.0012 0.0075 0.0039 0.0016 0.0018 0.0047 0.0012 0 0 0.0006 0.0083 0.0020 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . 0.01 . rs73238166 rs73238166 rs73238166 1 1538 10 1/0 0,255,255 +. 3 148885779 A ATT - CP 2295 Ceruloplasmin (ferroxidase) NM_000096.3 -1 4666 3198 NP_000087.1 P00450 duplication downstream GRCh37 148885779 148885780 Chr3(GRCh37):g.148885780_148885781dup *5720 *5721 NM_000096.3:c.*5720_*5721dup p.? p.? 19 117700 5738 3' 88.3597 7.65087 0.980524 3.27095 88.3597 7.65087 0.980524 3.27095 0 rs564039434 yes no Frequency/1000G 2 0.000000 0 0.007788 0.003000 0.018400 0.006000 0.009900 0.001400 0.009624 0.001850 0.002220 0.007182 0.000251 0.020269 0.010497 0.017190 0.008681 0.020269 2244 39 59 60 4 501 1128 406 47 233166 21076 26572 8354 15958 24718 107456 23618 5414 0.000043 0.000000 0.000000 0.000000 0.000000 0.000081 0.000037 0.000169 0.000000 5 0 0 0 0 1 2 2 0 6310 1427 308 92 538 568 2244 1014 119 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5708 1697 7405 82 36 118 0.0141623 0.0207732 0.0156852 0.0141623 0.0207732 0.0156852 62 AA 255 Pass . . . . . 0.003 0.0078 0.0014 0.006 0.0099 0.018 . . . . . 0.7058824 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Benign RCV000325027.1 Deficiency_of_ferroxidase MedGen:OMIM:Orphanet:SNOMED_CT C0878682:604290:ORPHA48818:124224004 2 . . . 17 . . . 0.0085 0.0094 0.01 0.0085 0.0094 0.0099 . . . . . . . . . . . . . . 0.0067 0.0105 0.0015 0.0008 0.0177 0.0103 0.0096 0.0211 0.0073 0.0113 0.0015 0.0013 0.0186 0.0114 0.0114 0.0211 . . . . . . intronic intronic intronic . . . . . . . . . . . HPS3 HPS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs564039434 . . . . . . . . . . . . . . . . . . . . . . . 0.009442 . . . . . 0.0018 0.0099 0.0021 0.0073 0.0003 0.0177 0.0105 0.0083 0.0203 0.0020 0.0078 0.0050 0.0035 0 0.0142 0.0108 0.0104 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . . . 1 1538 10 1.I 0,10,15 +. 3 148885779 A ATT - HPS3 15597 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 NM_032383.4 1 4129 3015 NP_115759.2 Q969F9 duplication intron GRCh37 148885789 148885790 Chr3(GRCh37):g.148885788_148885789dup 2887+18 2887+19 NM_032383.4:c.2887+18_2887+19dup p.? p.? 16 16 606118 19 5' 82.2129 8.37568 0.629981 III.76 82.2129 8.37568 0.629981 3.32756 0 rs564039434 yes no Frequency/1000G 2 0.000000 0 0.007788 0.003000 0.018400 0.006000 0.009900 0.001400 0.009624 0.001850 0.002220 0.007182 0.000251 0.020269 0.010497 0.017190 0.008681 0.020269 2244 39 59 60 4 501 1128 406 47 233166 21076 26572 8354 15958 24718 107456 23618 5414 0.000043 0.000000 0.000000 0.000000 0.000000 0.000081 0.000037 0.000169 0.000000 5 0 0 0 0 1 2 2 0 6310 1427 308 92 538 568 2244 1014 119 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5708 1697 7405 82 36 118 0.0141623 0.0207732 0.0156852 0.0141623 0.0207732 0.0156852 62 TT 255 Pass . . . . . 0.003 0.0078 0.0014 0.006 0.0099 0.018 . . . . . 0.7058824 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Benign RCV000325027.1 Deficiency_of_ferroxidase MedGen:OMIM:Orphanet:SNOMED_CT C0878682:604290:ORPHA48818:124224004 2 . . . 17 . . . 0.0085 0.0094 0.01 0.0085 0.0094 0.0099 . . . . . . . . . . . . . . 0.0067 0.0105 0.0015 0.0008 0.0177 0.0103 0.0096 0.0211 0.0073 0.0113 0.0015 0.0013 0.0186 0.0114 0.0114 0.0211 . . . . . . intronic intronic intronic . . . . . . . . . . . HPS3 HPS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs564039434 . . . . . . . . . . . . . . . . . . . . . . . 0.009442 . . . . . 0.0018 0.0099 0.0021 0.0073 0.0003 0.0177 0.0105 0.0083 0.0203 0.0020 0.0078 0.0050 0.0035 0 0.0142 0.0108 0.0104 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . . . 1 1538 10 1.I 0,10,15 +. 3 149192851 G GA - TM4SF4 11856 Transmembrane 4 L six family member 4 NM_004617.3 1 1607 609 NP_004608.1 P48230 insertion intron GRCh37 149192851 149192852 Chr3(GRCh37):g.149192851_149192852insA 174+13 174+14 NM_004617.3:c.174+13_174+14insA p.? p.? 1 1 606567 13 5' 82.9985 9.27414 0.980921 4.90298 82.9985 9.27414 0.980921 3.27757 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 239894 14990 32258 9708 16938 30158 110008 20486 5348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes A 255 Pass . . . . . . . . . . . . . . . . 0.6091954 . . . 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 87 . . INTRON(MODIFIER||||TM4SF4|mRNA|CODING|NM_004617|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000169903 TM4SF4 TM4SF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.169e-06 0 0 0 0 9.09e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,22 +rs62622807 3 149498097 T C - ANKUB1 29642 Ankyrin repeat and ubiquitin domain containing 1 NM_001144960.2 -1 2137 1635 NP_001138432.1 substitution missense exon GRCh37 149498097 149498097 Chr3(GRCh37):g.149498097T>C 380 380 NM_001144960.2:c.380A>G p.Tyr127Cys p.Tyr127Cys 3 -72 5' 59.1641 2.28715 0.071675 1.70985 59.1641 2.28715 0.071675 1.84633 0 rs62622807 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.008000 0.007200 0.006779 0.002253 0.004316 0.006197 0.000000 0.003681 0.010443 0.007677 0.007800 0.010443 1239 37 107 53 0 84 765 155 38 182770 16422 24794 8552 11862 22822 73256 20190 4872 0.000066 0.000000 0.000000 0.000000 0.000000 0.000088 0.000109 0.000099 0.000000 6 0 0 0 0 1 4 1 0 1227 37 107 53 0 82 757 153 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3142 1380 4522 40 4 44 0.0125707 0.00289017 0.00963644 0.0125707 0.00289017 0.00963644 188 transition A G A>G 1.000 0.286 Y Tyr TAC 0.562 C Cys TGC 0.552 127 12 8 Frog -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 248.38 0.00 Deleterious 0 4.VI 255 PASS . 0.0041 0.01 . 0.01 . 0.0026 0.0072 . 0.008 . . . . . . 0.46666667 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.511 . @ . . . . . 1 0.750 . . 60.0 . . . 0.0029 0.0096 0.013 0.0029 0.0096 0.013 . 0.1109 0.079 0.111 c . . . . . 6.408e-03 . . . 0.0028 0.0065 0.0048 0 0.025 0.0108 0.0208 0.0028 0.0033 0.0057 0.0067 0 0.0074 0.0102 0.0169 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.288 . . exonic exonic exonic . . 0.298 0.0026 . . . 0.31 0.24 182 ENSG00000206199 ANKUB1 ANKUB1 . . . 0.999 0.382 . 583 0.00897254 64976 571 0.00951889 59986 Uncertain_significance . 0 . 0.245 . . . . . . . . . 37 . 0.249 . . 0.350 . . . 0.488 0.307 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.773 . . 0 0 0 0 0 0 . 0.615 . . 0.521 . . . . . . 1 0.614 . . . . . 0.393 . 0.416 . HET 0 rs62622807 . . . . . . . 0.004120879120879121 0.0 0.008287292817679558 0.0 0.0079155672823219 IX.33 0.001425 . V.35 II.57 . 0.010000 . . . . 0.009636 . 0.326 . . II.57 0.0018 0.0067 0.0043 0.0063 0 0.0077 0.0104 0.0082 0.0037 0.0026 0.0070 0.0036 0.0033 0 0.0074 0.0105 0.0061 . . 0.133 . 0.955 0.955000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.466 0.995 . 0.347 . 0.206 0.955 -0.291 0.013 rs62622807 rs62622807 rs62622807 rs62622807 1 1538 10 1/0 0,255,255 +rs148518207 3 151017912 G A - GPR87 4538 G protein-coupled receptor 87 NM_023915.3 -1 1521 1077 NP_076404.3 Q9BY21 substitution 5'UTR GRCh37 151017912 151017912 Chr3(GRCh37):g.151017912G>A -24 -24 NM_023915.3:c.-24C>T p.? p.? 2 606379 -58 5' 82.0854 7.47029 0.971942 0 82.0854 7.47029 0.971942 0 0 Cryptic Acceptor Weakly Activated 151017905 6.74129 0.711476 88.5325 VI.09 0.822405 90.0431 rs148518207 yes no Frequency/1000G 2 G 0.000000 0 0.005791 0.000000 0.016400 0.000000 0.011900 0.001400 0.009534 0.000832 0.001598 0.001182 0.000106 0.016212 0.007408 0.041421 0.007426 0.041421 2642 20 55 12 2 499 938 1068 48 277104 24034 34412 10148 18854 30780 126628 25784 6464 0.000303 0.000000 0.000000 0.000000 0.000000 0.000910 0.000032 0.001939 0.000309 42 0 0 0 0 14 2 25 1 2558 20 55 12 2 471 934 1018 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4399 12935 64 7 71 0.00744186 0.00158874 0.00545902 0.00744186 0.00158874 0.00545902 86 transition C T C>T 0.008 0.770 255 PASS . 0.01 . . 0.02 . 0.0058 0.0014 . 0.012 0.016 . . . . . 0.49019608 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . 0.0016 0.0055 0.0074 0.0016 0.0055 0.0074 . 0.4829 . . . . . . . . 9.408e-03 . . . 0.0011 0.0084 0.0020 0.0004 0.0416 0.0067 0.0154 0.0169 0.0011 0.0092 0.0020 0.0001 0.0392 0.0074 0.0144 0.0168 . . . . . . UTR5 UTR5 UTR5 . . . 0.0058 . . . 0.49 0.57 182 ENSG00000138271 GPR87 GPR87 ENST00000260843:c.-24C>T uc003eyt.2:c.-24C>T NM_023915:c.-24C>T . . . 545 0.00838771 64976 516 0.00860201 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148518207 . . . . . . . . . . . . . . . . . . . . . . . 0.005459 . . . . II.65 0.0008 0.0096 0.0016 0.0011 0.0001 0.0423 0.0072 0.0064 0.0162 0.0008 0.0093 0.0024 0.0033 0 0.0361 0.0093 0.0132 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs148518207 rs148518207 1 1538 10 1/0 0,255,255 +rs148518207 3 151017912 G A - MED12L 16050 Mediator complex subunit 12-like NM_053002.5 1 10440 6438 NP_443728.3 Q86YW9 substitution intron GRCh37 151017912 151017912 Chr3(GRCh37):g.151017912G>A 2146-49935 2146-49935 NM_053002.5:c.2146-49935G>A p.? p.? 15 14 611318 -49935 3' 98.1858 X.97 0.957794 X.67 98.1858 X.97 0.957794 X.67 0 rs148518207 yes no Frequency/1000G 2 G 0.000000 0 0.005791 0.000000 0.016400 0.000000 0.011900 0.001400 0.009534 0.000832 0.001598 0.001182 0.000106 0.016212 0.007408 0.041421 0.007426 0.041421 2642 20 55 12 2 499 938 1068 48 277104 24034 34412 10148 18854 30780 126628 25784 6464 0.000303 0.000000 0.000000 0.000000 0.000000 0.000910 0.000032 0.001939 0.000309 42 0 0 0 0 14 2 25 1 2558 20 55 12 2 471 934 1018 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4399 12935 64 7 71 0.00744186 0.00158874 0.00545902 0.00744186 0.00158874 0.00545902 86 transition G A G>A 0.008 0.770 255 PASS . 0.01 . . 0.02 . 0.0058 0.0014 . 0.012 0.016 . . . . . 0.49019608 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . 0.0016 0.0055 0.0074 0.0016 0.0055 0.0074 . 0.4829 . . . . . . . . 9.408e-03 . . . 0.0011 0.0084 0.0020 0.0004 0.0416 0.0067 0.0154 0.0169 0.0011 0.0092 0.0020 0.0001 0.0392 0.0074 0.0144 0.0168 . . . . . . UTR5 UTR5 UTR5 . . . 0.0058 . . . 0.49 0.57 182 ENSG00000138271 GPR87 GPR87 ENST00000260843:c.-24C>T uc003eyt.2:c.-24C>T NM_023915:c.-24C>T . . . 545 0.00838771 64976 516 0.00860201 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148518207 . . . . . . . . . . . . . . . . . . . . . . . 0.005459 . . . . II.65 0.0008 0.0096 0.0016 0.0011 0.0001 0.0423 0.0072 0.0064 0.0162 0.0008 0.0093 0.0024 0.0033 0 0.0361 0.0093 0.0132 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs148518207 rs148518207 1 1538 10 1/0 0,255,255 +rs185787611 (chr3:161147131 A/G) 3 161147131 A G Not on a known gene +rs368339166 (chr3:161147146 C/A) 3 161147146 C A Not on a known gene +. (chr3:161147374 T/C) 3 161147374 T C Not on a known gene +rs770963599 (chr3:161147380 C/T) 3 161147380 C T Not on a known gene +rs202213975 3 169521963 G A - LRRC34 28408 Leucine rich repeat containing 34 NM_001172779.1 -1 1840 1395 NP_001166250.1 substitution missense exon GRCh37 169521963 169521963 Chr3(GRCh37):g.169521963G>A 535 535 NM_001172779.1:c.535C>T p.Arg179Trp p.Arg179Trp 6 7 3' 95.5619 9.01268 0.990842 7.42218 95.5619 9.01268 0.99184 7.02475 0.000335741 Leucine-rich repeat, ribonuclease inhibitor subtype rs202213975 yes no Frequency 1 G 0.000000 0 0.000296 0.000000 0.000183 0.005703 0.000000 0.000040 0.000117 0.000000 0.000523 0.005703 75 0 5 52 0 1 14 0 3 252980 23200 27370 9118 17208 24978 120032 25338 5736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 75 0 5 52 0 1 14 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4404 13001 1 0 1 0.000116306 0 7.69112e-05 0.000116306 0 7.69112e-05 53 transition C T C>T 0.031 -0.198 R Arg CGG 0.207 W Trp TGG 1.000 179 15 4 Tetraodon -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 96.44 71.01 Deleterious 0.02 III.35 good 1.731E-1 0.2793 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.538 . @ . . . . . 1 0.374 . . 15.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.6509 -0.821 -0.651 c . . . . . 2.526e-04 . . . 0 0.0004 8.812e-05 0 0 0.0007 0.0015 6.506e-05 0 0.0002 9.088e-05 0 0 0.0004 0.0015 6.544e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.540 . . exonic exonic exonic . . 0.162 @ . . . 0.48 0.24 182 ENSG00000171757 LRRC34 LRRC34 . . . 0.000 0.069 . 6 9.23418e-05 64976 6 0.000100023 59986 Uncertain_significance . 0 . 0.075 . . . . D 0.529 0.030 . . 37 . 0.601 . . 0.514 . . . 0.689 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.652 . . 0 0 0 0 0 0 . 0.629 . . 0.489 . . . . . . 0 0.574 . . . . . 0.257 . 0.192 . HET 0.01 rs202213975 . . . . . . . . . . . . VII.21 0.0 . V.46 0.521 . 0.030000 . . . . 0.000077 . 0.070 . . . 0 0.0003 0.0002 0.0058 0 0 0.0001 0.0006 4.004e-05 0 0.0001 0 0.0033 0 0 0.0002 0 . . 0.428 . 0.070 0.070000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.279 0.207 . 0.044 . 0.094 0.070 -0.677 0.0001 . . rs202213975 rs202213975 1 1538 10 1/0 0,255,255 +rs187242744 3 170016925 T G - PRKCI 9404 Protein kinase C, iota NM_002740.5 1 4884 1791 NP_002731.4 P41743 substitution intron GRCh37 170016925 170016925 Chr3(GRCh37):g.170016925T>G 1703+27 1703+27 NM_002740.5:c.1703+27T>G p.? p.? 17 17 600539 27 5' 78.9032 10.1476 0.980958 0.760132 78.9032 10.1476 0.980958 0.675233 0 rs187242744 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.000000 0.002000 0.000000 0.002000 0.002900 0.001584 0.000344 0.002784 0.004198 0.000000 0.001157 0.002058 0.000046 0.003966 0.004198 299 7 49 17 0 17 192 1 16 188718 20364 17598 4050 13088 14690 93304 21590 4034 0.000021 0.000000 0.000114 0.000000 0.000000 0.000000 0.000021 0.000000 0.000000 2 0 1 0 0 0 1 0 0 295 7 47 17 0 17 190 1 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4405 12995 10 1 11 0.00116279 0.000226963 0.000845763 0.00116279 0.000226963 0.000845763 30 transversion T G T>G 0.102 0.932 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0012 0.0029 . 0.002 0.002 . . . . . 0.52 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||PRKCI|mRNA|CODING|NM_002740|) 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . 0.2503 . . . . . . . . 1.646e-03 . . . 0.0006 0.0023 0.0035 0 0 0.0032 0.0036 0.0014 0.0007 0.0019 0.0034 0 0 0.0024 0.0055 0.0014 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.63 0.22 182 ENSG00000163558 PRKCI PRKCI . . . . . . 102 0.00156981 64976 96 0.00160037 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187242744 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7356 0.000846 . . . . II.73 0.0003 0.0017 0.0027 0.0043 0 5.523e-05 0.0021 0.0046 0.0012 0.0005 0.0011 0.0036 0.0033 0 0 0.0016 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs187242744 rs187242744 1 1538 10 1/0 0,255,255 +rs373243207 3 171569876 G A - TMEM212 34295 Transmembrane protein 212 NM_001164436.1 1 1881 585 NP_001157908.1 A6NML5 substitution intron GRCh37 171569876 171569876 Chr3(GRCh37):g.171569876G>A 219+45 219+45 NM_001164436.1:c.219+45G>A p.? p.? 2 2 45 5' 79.3374 6.05868 0.976819 0.507179 79.3374 6.05868 0.976819 0 0 rs373243207 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001310 0.000437 0.001345 0.002369 0.000000 0.000000 0.002091 0.000386 0.001904 0.002369 223 7 33 20 0 0 150 4 9 170180 16036 24532 8442 11646 22696 71726 10374 4728 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 7 33 20 0 0 150 4 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3176 1383 4559 6 1 7 0.00188561 0.000722543 0.00153307 0.00188561 0.000722543 0.00153307 108 transition G A G>A 0.000 0.448 255 PASS . . . . . . 0.0006 . . 0.003 . . . . . . 0.6229508 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . INTRON(MODIFIER||||TMEM212|mRNA|CODING|NM_001164436|) 0.0007 0.0015 0.0019 0.0007 0.0015 0.0019 . 0.5770 . . . . . . . . 6.771e-04 . . . 0.0011 0.0008 0.0033 0 0 0.0015 0 0 0.0007 0.0004 0 0 0.0006 0.0010 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.37 0.47 182 ENSG00000186329 TMEM212 TMEM212 . . . . . . 191 0.00293955 64976 188 0.00313406 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373243207 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7356 0.001533 . . . . II.46 0.0004 0.0013 0.0013 0.0023 0 0.0004 0.0021 0.0019 0 0.0005 0.0013 0.0024 0.0033 0 0.0003 0.0020 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0019 . . rs373243207 rs373243207 1 1538 10 1/0 0,255,255 +rs61750378 3 176767818 T C - TBL1XR1 29529 Transducin (beta)-like 1 X-linked receptor 1 NM_001321193.1 -1 7954 1545 NP_001308122.1 Q9BZK7 substitution synonymous exon GRCh37 176767818 176767818 Chr3(GRCh37):g.176767818T>C 669 669 NM_001321193.1:c.669A>G p.Pro223= p.Pro223Pro 7 608628 -34 5' 82.716 7.79763 0.809217 0.546972 82.716 7.79763 0.809217 0.919891 0 rs61750378 yes no Frequency/1000G 2 T 0.000000 0 0.002995 0.000000 0.000000 0.000000 0.009900 0.007200 0.005177 0.001083 0.000931 0.005228 0.000000 0.000000 0.008651 0.007583 0.005113 0.008651 1432 26 32 53 0 0 1093 195 33 276622 24008 34372 10138 18828 30770 126338 25714 6454 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1424 26 32 53 0 0 1085 195 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8234 3982 12216 60 4 64 0.00723415 0.00100351 0.00521173 0.00723415 0.00100351 0.00521173 156 transition A G A>G 0.543 -1.247 P Pro CCA 0.274 P Pro CCG 0.115 223 255 PASS . 0.0041 0.01 . 0.01 . 0.003 0.0072 . 0.0099 . . . TBL1XR1:NM_024665:exon7:c.A669G:p.P223P . . 0.44155845 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 77.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P223|TBL1XR1|mRNA|CODING|NM_024665|NM_024665.ex.7) 0.001 0.0052 0.0072 0.001 0.0052 0.0072 . 0.8633 . . . . . . . . 5.343e-03 . . . 0.0012 0.0044 0.0010 0 0.0074 0.0081 0.0029 0 0.0013 0.0049 0.0010 0 0.0079 0.0081 0.0044 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0030 . . . 0.55 0.35 182 ENSG00000177565 TBL1XR1 TBL1XR1 . . . . . . 393 0.00604839 64976 379 0.00631814 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61750378 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.005212 . . . . . 0.0010 0.0051 0.0009 0.0052 0 0.0077 0.0085 0.0051 0 0.0011 0.0062 0.0012 0.0066 0 0.0072 0.0099 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs61750378 rs61750378 rs61750378 rs61750378 1 1538 10 1/0 0,255,255 +rs7637065 (chr3:179096508 C/G) 3 179096508 C G Transcript NM_033540.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) MFN1 +rs189930234 3 180633454 C A - FXR1 4023 Fragile X mental retardation, autosomal homolog 1 NM_005087.3 1 8567 1866 NP_005078.2 P51114 substitution intron GRCh37 180633454 180633454 Chr3(GRCh37):g.180633454C>A 51+2930 51+2930 NM_005087.3:c.51+2930C>A p.? p.? 1 1 600819 2930 5' 71.4965 8.55816 0.795704 7.191 71.4965 8.55816 0.795704 7.191 0 rs189930234 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.000698 0.000201 0.000610 0.000120 0.000000 0.000000 0.001317 0.000114 0.001307 0.001317 112 3 15 1 0 0 86 1 6 160562 14906 24578 8352 11534 22524 65288 8788 4592 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000031 0.000000 0.000000 1 0 0 0 0 0 1 0 0 110 3 15 1 0 0 84 1 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -0.521 255 PASS . 0.0009 0.01 . . . 0.0006 0.0029 . 0.001 . . . . . . 0.42553192 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.2347 . . . . . . . . 1.669e-04 . . . 0 0.0002 0 0 0 0.0006 0 0 0 9.127e-05 0 0 0 0.0004 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.31 0.18 182 ENSG00000114416 FXR1 FXR1 . . . . . . 87 0.00133896 64976 84 0.00140033 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189930234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0.0006 0.0001 0 0.0002 0.0014 0.0011 0 0.0003 0.0006 0 0 0 0 0.0010 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189930234 rs189930234 1 1538 10 1/0 0,255,255 +rs375924051 3 183756837 G T - HTR3D 24004 5-hydroxytryptamine (serotonin) receptor 3 family member D NM_001163646.1 1 1759 1365 NP_001157118.1 Q70Z44 substitution 3'UTR GRCh37 183756837 183756837 Chr3(GRCh37):g.183756837G>T *74 *74 NM_001163646.1:c.*74G>T p.? p.? 8 610122 304 3' 87.1925 X.68 0.99609 9.59355 87.1925 X.68 0.99609 9.59355 0 rs375924051 no no 0 T 0.000000 0 transversion G T G>T 0.000 -6.655 255 PASS . . . . . . . . . . . . . . . . 0.328125 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -1.3794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000186090 HTR3D HTR3D . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375924051 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv4145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375924051 rs375924051 1 1538 10 1/0 0,255,255 +. 3 183899148 GTTCGCTC G - AP2M1 564 Adaptor-related protein complex 2, mu 1 subunit NM_001311198.1 1 2015 1383 NP_001298127.1 deletion intron GRCh37 183899151 183899157 Chr3(GRCh37):g.183899151_183899157del 782+137 782+143 NM_001311198.1:c.782+137_782+143del p.? p.? 9 9 601024 137 5' 69.1017 4.00629 0.251064 0.938224 69.1017 4.00629 0.251064 0.938224 0 rs570199310 yes no Frequency/1000G 2 0.000599 - 3 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.006369 0.000000 0.000000 0.000000 0.000000 0.000000 0.006007 0.029210 0.005112 0.029210 197 0 0 0 0 0 90 102 5 30930 8716 838 302 1622 0 14982 3492 978 0.010152 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.000000 0.000000 2 0 0 0 0 0 2 0 0 193 0 0 0 0 0 86 102 5 0 0 0 0 0 0 0 0 0 PASS 40 Genomes CGCTCTT 255 Pass . . . . . . 0.0006 . . 0.003 . . . . . . 0.3846154 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . . . . . . . . . AP2M1 AP2M1 . uc031scq.1:c.*74_*80delTTCGCTC . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs570199310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0064 0 0 0 0.0292 0.0060 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +. 3 183960782 T TG - ALG3 23056 ALG3, alpha-1,3- mannosyltransferase NM_005787.5 -1 1533 1317 NP_005778.1 Q92685 duplication intron GRCh37 183960782 183960783 Chr3(GRCh37):g.183960783dup 1010-38 1010-38 NM_005787.5:c.1010-38dup p.? p.? 8 7 608750 -37 3' 0 0 0 0 0 0 0 0 0 rs532747618 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003970 0.000000 0.000239 0.000100 0.000054 0.000033 0.003220 0.026667 0.003003 0.026667 1065 0 8 1 1 1 395 640 19 268254 23438 33450 9972 18492 29894 122682 24000 6326 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000833 0.000000 12 0 0 0 0 0 2 10 0 1040 0 8 1 1 1 390 620 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7930 3823 11753 24 11 35 0.00301735 0.00286907 0.00296912 0.00301735 0.00286907 0.00296912 38 C 255 Pass . . . . . . 0.001 . . 0.005 . . . . . . 0.3243243 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . 0.0023 0.0027 0.0029 0.0029 0.003 0.003 . . . . . . . . . . . . . . 0.0002 0.0020 0.0001 0 0.0233 0.0020 0.0047 0 0 0.0030 0.0001 0 0.0235 0.0032 0.0050 0 . . . . . . intronic intronic intronic . . . . . . . . . . . ALG3 ALG3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs532747618 . . . . . . . . . . . . . . . . . . . . . . . 0.002715 . . . . . 0 0.0036 0.0002 0.0001 0 0.0262 0.0028 0.0024 3.345e-05 0 0.0066 0 0 0.0006 0.0295 0.0063 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . . . . 1 1538 10 1.I 0,11,49 +. 3 183960782 T TG - MIR1224 33923 MicroRNA 1224 NR_030410.1 1 85 0 duplication downstream GRCh37 183960789 183960790 Chr3(GRCh37):g.183960789dup *1512 *1512 NR_030410.1:n.*1512dup p.? p.? 1 611620 rs532747618 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003970 0.000000 0.000239 0.000100 0.000054 0.000033 0.003220 0.026667 0.003003 0.026667 1065 0 8 1 1 1 395 640 19 268254 23438 33450 9972 18492 29894 122682 24000 6326 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000833 0.000000 12 0 0 0 0 0 2 10 0 1040 0 8 1 1 1 390 620 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7930 3823 11753 24 11 35 0.00301735 0.00286907 0.00296912 0.00301735 0.00286907 0.00296912 38 G 255 Pass . . . . . . 0.001 . . 0.005 . . . . . . 0.3243243 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . 0.0023 0.0027 0.0029 0.0029 0.003 0.003 . . . . . . . . . . . . . . 0.0002 0.0020 0.0001 0 0.0233 0.0020 0.0047 0 0 0.0030 0.0001 0 0.0235 0.0032 0.0050 0 . . . . . . intronic intronic intronic . . . . . . . . . . . ALG3 ALG3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs532747618 . . . . . . . . . . . . . . . . . . . . . . . 0.002715 . . . . . 0 0.0036 0.0002 0.0001 0 0.0262 0.0028 0.0024 3.345e-05 0 0.0066 0 0 0.0006 0.0295 0.0063 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . . . . 1 1538 10 1.I 0,11,49 +. 3 183960782 T TG - VWA5B2 25144 Von Willebrand factor A domain containing 5B2 NM_138345.2 1 4120 3729 NP_612354.1 duplication downstream GRCh37 183960789 183960790 Chr3(GRCh37):g.183960789dup *963 *963 NM_138345.2:c.*963dup p.? p.? 19 1512 3' 87.7233 13.0406 0.995992 17.8571 87.7233 13.0406 0.995992 17.8571 0 rs532747618 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003970 0.000000 0.000239 0.000100 0.000054 0.000033 0.003220 0.026667 0.003003 0.026667 1065 0 8 1 1 1 395 640 19 268254 23438 33450 9972 18492 29894 122682 24000 6326 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000833 0.000000 12 0 0 0 0 0 2 10 0 1040 0 8 1 1 1 390 620 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7930 3823 11753 24 11 35 0.00301735 0.00286907 0.00296912 0.00301735 0.00286907 0.00296912 38 G 255 Pass . . . . . . 0.001 . . 0.005 . . . . . . 0.3243243 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . 0.0023 0.0027 0.0029 0.0029 0.003 0.003 . . . . . . . . . . . . . . 0.0002 0.0020 0.0001 0 0.0233 0.0020 0.0047 0 0 0.0030 0.0001 0 0.0235 0.0032 0.0050 0 . . . . . . intronic intronic intronic . . . . . . . . . . . ALG3 ALG3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs532747618 . . . . . . . . . . . . . . . . . . . . . . . 0.002715 . . . . . 0 0.0036 0.0002 0.0001 0 0.0262 0.0028 0.0024 3.345e-05 0 0.0066 0 0 0.0006 0.0295 0.0063 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . . . . 1 1538 10 1.I 0,11,49 +rs11545175 3 184025306 G A - PSMD2 9559 Proteasome 26S subunit, non-ATPase 2 NM_002808.4 1 3060 2727 NP_002799.3 Q13200 substitution synonymous exon GRCh37 184025306 184025306 Chr3(GRCh37):g.184025306G>A 2196 2196 NM_002808.4:c.2196G>A p.Val732= p.Val732Val 17 606223 -8 5' 84.0719 8.94615 0.984973 4.38314 84.0719 8.94615 0.984973 4.34516 0 Cryptic Donor Strongly Activated 184025303 4.90179 0.008116 70.9607 7.41715 0.228143 75.323 26S proteasome regulatory complex, non-ATPase subcomplex, Rpn1 subunit rs11545175 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.002796 0.000800 0.000000 0.000000 0.010900 0.002900 0.005396 0.001664 0.003980 0.014677 0.000000 0.000877 0.008160 0.003103 0.004485 0.014677 1496 40 137 149 0 27 1034 80 29 277226 24034 34420 10152 18870 30782 126718 25784 6466 0.000065 0.000000 0.000058 0.000000 0.000000 0.000000 0.000110 0.000000 0.000309 9 0 1 0 0 0 7 0 1 1478 40 135 149 0 27 1020 80 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4392 12925 67 14 81 0.0077907 0.00317749 0.00622789 0.0077907 0.00317749 0.00622789 82 transition G A G>A 1.000 1.497 V Val GTG 0.468 V Val GTA 0.114 732 255 PASS . 0.0041 0.0028 . 0.01 0.0008 0.0028 0.0029 . 0.011 . . . . . . 0.4027778 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . . 0.0032 0.0062 0.0078 0.0032 0.0062 0.0078 . -0.0997 . . . . . . . . 5.643e-03 . . . 0.0019 0.0055 0.0035 0 0.0053 0.0095 0.0028 0.0008 0.0019 0.0055 0.0037 0 0.0036 0.0090 0.0014 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.25 182 ENSG00000175166 PSMD2 PSMD2 . . . . . . 591 0.00909567 64976 577 0.00961891 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34947519 . . . . . . . 0.004120879120879121 0.0 0.0027624309392265192 0.0 0.010554089709762533 VI.18 0.002408 ENST00000432855 5.IX II.19 . . . . . . 0.006228 . . . . II.19 0.0018 0.0055 0.0039 0.0147 0 0.0030 0.0082 0.0046 0.0009 0.0014 0.0049 0.0060 0.0132 0 0.0040 0.0075 0.0041 . . . . 0.125 0.125000 . . . . . 1.0E-255 . . . . . . . . . 0.125 . 0.01 rs34947519 rs34947519 rs11545175 rs11545175 1 1538 10 1/0 0,255,255 +rs1675956 3 194353786 C G - TMEM44 25120 Transmembrane protein 44 NM_001166305.1 -1 2490 1428 NP_001159777.1 Q2T9K0 substitution intron GRCh37 194353786 194353786 Chr3(GRCh37):g.194353786C>G 137+22 137+22 NM_001166305.1:c.137+22G>C p.? p.? 1 1 22 5' 58.0045 0 0.000853 4.56793 58.0045 0 0.000853 III.59 0 rs1675956 yes no Frequency 1 C 0.000000 0 0.000030 0.000157 0.000042 0.000000 0.000000 0.000044 0.000022 0.000000 0.000000 0.000157 4 1 1 0 0 1 1 0 0 133686 6356 23576 7800 9568 22482 46312 14028 3564 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 52 Exomes transversion G C G>C 0.024 0.286 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.4352 . . . . . . . . 5.531e-04 . . . 0.0008 0.0001 0 0 0 0 0 0.0001 0 7.943e-05 0 0 0 0 0 0.0001 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.23 0.26 182 ENSG00000229334 TMEM44 TMEM44 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs1675956 0.087 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 2.992e-05 4.242e-05 0 0 0 2.159e-05 0 4.448e-05 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . 0.087 rs1675956 rs1675956 rs1675956 rs1675956 1 1538 10 1/0 0,255,255 +rs712003 3 195415529 C T - SDHAP2 27408 Succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 NR_003265.3 1 2310 0 substitution exon GRCh37 195415529 195415529 Chr3(GRCh37):g.195415529C>T 2097 2097 NR_003265.3:n.2097C>T 15 126 3' 88.7315 6.29296 0.84621 6.46479 88.7315 6.29296 0.84621 6.46479 0 rs712003 yes no Frequency 1 0.000000 0 0.002899 0.002984 0.004398 0.000668 0.004163 0.003696 0.002217 0.000291 0.006367 0.004398 337 37 75 4 39 58 101 2 21 116232 12400 17054 5986 9368 15692 45564 6870 3298 0.000086 0.000000 0.000352 0.000000 0.000000 0.000127 0.000000 0.000000 0.000606 5 0 3 0 0 1 0 0 1 327 37 69 4 39 56 101 2 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 247 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 16.0 . . . . . . . . . . -0.4618 . . . . . . . . 1.994e-04 . . . 0 0.0002 0 0.0208 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.39 0.06 182 ENSG00000242086 . . . dist\x3d14671\x3bdist\x3d10743 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200789312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0025 0.0045 0.0007 0.0041 0.0003 0.0010 0.0066 0.0037 0.0046 0.0047 0.0015 0 0.0048 0.0003 0.0064 0.0056 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . rs712003 rs712003 rs712003 rs200789312 1 1538 10 1/0 0,255,255 +rs878980650 3 195447805 T C - MUC20 23282 Mucin 20, cell surface associated NM_001282506.1 1 2591 2130 NP_001269435.1 Q8N307 substitution 5'UTR GRCh37 195447805 195447805 Chr3(GRCh37):g.195447805T>C -74 -74 NM_001282506.1:c.-74T>C p.? p.? 1 610360 -150 5' 94.9812 11.083 0.998172 7.28037 94.9812 11.083 0.998172 7.28037 0 Cryptic Donor Strongly Activated 195447806 0.845705 0.021643 66.1107 I.34 0.03076 65.7076 rs878980650 no no 0 T 0.000000 0 0.003443 0.001246 0.002597 0.003623 0.009646 0.000000 0.004648 0.002211 0.002381 0.009646 93 10 2 1 12 0 59 7 2 27014 8024 770 276 1244 0 12694 3166 840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 10 2 1 12 0 59 7 2 0 0 0 0 0 0 0 0 0 RF 91 Genomes transition T C T>C 0.370 -2.216 237 PASS . . . . . . . . . . . . . . . . 0.26530612 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . -0.3096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR5 UTR5 . . . @ . . . . . . ENSG00000242086 MUC20 MUC20 . uc010hzo.3:c.-74T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0034 0.0026 0.0036 0.0096 0.0022 0.0046 0.0024 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs369019587 3 195451917 G T - MUC20 23282 Mucin 20, cell surface associated NM_001282506.1 1 2591 2130 NP_001269435.1 Q8N307 substitution missense exon GRCh37 195451917 195451917 Chr3(GRCh37):g.195451917G>T 443 443 NM_001282506.1:c.443G>T p.Ser148Ile p.Ser148Ile 2 610360 367 3' 75.8577 2.71818 0.266872 3.27235 75.8577 2.71818 0.266872 3.27235 0 Cryptic Acceptor Strongly Activated 195451926 1.2e-05 0.105403 0.000152 70.7236 rs369019587 yes no Frequency 1 G 0.000000 0 0.000904 0.008116 0.000321 0.000099 0.000270 0.000523 0.000275 0.000118 0.000478 0.008116 244 171 11 1 5 16 34 3 3 269986 21070 34216 10094 18520 30578 123780 25446 6282 0.000341 0.003892 0.000117 0.000000 0.000000 0.000131 0.000016 0.000000 0.000000 46 41 2 0 0 2 1 0 0 152 89 7 1 5 12 32 3 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.941 1.416 S Ser AGC 0.243 I Ile ATC 0.481 148 12 12 Dolphin -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C65 0.00 141.80 Deleterious 0 III.75 221 PASS . . . . . . . . . . . . . . . . 0.21527778 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.662 . @ . . . . . 1 0.732 . . 144.0 . . . . . . . . . . 0.3114 0.254 0.311 c . . . . . 2.394e-05 . . . 0.0001 1.112e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.275 . . exonic exonic exonic . . 0.406 @ . . . 0.4 0.32 182 ENSG00000176945 MUC20 MUC20 . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . T 0.449 0.022 . . 37 . 0.408 . . 0.503 . . . 0.505 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.780 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 0 0.501 . . . . . 0.344 . 0.682 . HET 0.03 rs369019587 . . . . . . . . . . . . VIII.79 8.83E-4 . IV.52 III.63 . 0.030000 E9PH32 . . . . . 0.447 . . III.63 0.0108 0.0008 0.0003 0 0.0001 0 8.087e-05 0.0002 0.0005 0.0023 0.0020 0.0026 0.0039 0.0022 0.0010 0.0020 0.0024 . . 0.283 . 1.225 1.225000 . . 0.030000 . . 1.0E-221 0.999 0.424 . 0.529 0.228 . 0.347 . 0.669 1.225 0.897 . . rs71635065 rs71635065 rs369019587 1 1538 10 1/0 0,220,255 +rs149026852 3 195505801 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505801 195505801 Chr3(GRCh37):g.195505801G>A 12650 12650 NM_018406.6:c.12650C>T p.Ala4217Val p.Ala4217Val 2 158372 -141 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195505792 I.58 0.719051 3.03759 0.849945 rs149026852 no no 0 0.000000 0 0.000579 0.001915 0.000793 0.002368 0.001334 0.000177 0.000206 0.000071 0.001514 0.002368 76 22 13 13 7 3 12 1 5 131370 11490 16386 5490 5246 16932 58346 14178 3302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 22 13 13 7 3 12 1 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.974 A Ala GCA 0.226 V Val GTA 0.114 4217 12 2 Dog 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.12 III.91 113 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C12650T:p.A4217V MUC4:NM_018406:exon2:c.C12650T:p.A4217V . . 0.10858144 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.011 . . 571.0 . . . . . . . . . . -1.7646 -1.869 -1.765 c . . . . . . . . . 0.0043 0.0006 0 0 0 0.0001 0 0 0.0054 0.0007 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.073 @ . . . 0.22 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.064 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.162 . . 0.266 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.144 . . 0.040 . . . . . . 2 0.033 . . . . . 0.195 . 0.030 . LowAF . rs149026852 . . . . . . . . . . . . 6.1781 0.004286 . 0.93 -1.86 . . E7ESK3 . . . . . 0.004 . . . 0.0019 0.0006 0.0008 0.0024 0.0016 8.37e-05 0.0002 0.0019 0.0002 0.0020 0.0006 0 0 0 0 9.808e-05 0 . . 0.283 . -1.621 -1.621000 . . . . . 1.0E-113 0.000 0.063 . 0.016 0.294 . 0.229 . 0.004 -1.621 0.557 . . . rs200432267 rs200432267 1 1538 10 1/0 0,155,252 +rs199819876 3 195505814 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505814 195505814 Chr3(GRCh37):g.195505814C>T 12637 12637 NM_018406.6:c.12637G>A p.Asp4213Asn p.Asp4213Asn 2 158372 -154 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs199819876 yes no Frequency/1000G 2 0.000000 0 0.018970 0.015100 0.014300 0.016900 0.030800 0.018700 0.001878 0.003241 0.002059 0.000206 0.004808 0.001001 0.001020 0.004294 0.001130 0.004808 199 30 24 1 18 14 46 63 3 105942 9256 11656 4858 3744 13992 45110 14670 2656 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 199 30 24 1 18 14 46 63 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.102 0.286 D Asp GAC 0.539 N Asn AAC 0.536 4213 12 1 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.22 III.91 174 PASS . . . . . 0.015 0.019 0.019 0.017 0.031 0.014 . MUC4:uc021xjp.1:exon2:c.G12637A:p.D4213N MUC4:NM_018406:exon2:c.G12637A:p.D4213N . . 0.10998308 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.012 . . 591.0 . . . . . . . . . . -1.7849 -1.887 -1.785 c . . . . . . . . . 0.0014 0.0013 0 0 0 0.0022 0 0.0005 0 0.0003 0 0 0 0.0004 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . 0.0190 . . . 0.2 0.14 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.134 . . 0.247 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.098 . . 0 0 0 0 0 0 . 0.172 . . 0.063 . . . . . . 2 0.433 . . . . . 0.113 . 0.005 . LowAF . rs199819876 . . . . . . . . . . . . IV.34 0.0 . . . . . E7ESK3 . . . . . 0.003 . . . 0.0059 0.0021 0.0020 0.0002 0.0066 0.0046 0.0012 0.0015 0.0010 0.0013 0.0010 0.0036 0 0 0.0026 0.0004 0 . . 0.372 . -1.791 -1.791000 . . . . . 1.0E-174 0.000 0.063 . 0.016 0.135 . 0.002 . 0.002 -1.791 0.537 . . . rs199819876 rs199819876 1 1538 10 1/0 0,151,255 +rs200161977 3 195505932 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505932 195505932 Chr3(GRCh37):g.195505932G>C 12519 12519 NM_018406.6:c.12519C>G p.His4173Gln p.His4173Gln 2 158372 -272 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195505937 3.34011 0.194371 72.4027 7.19963 0.874772 85.0987 rs200161977 yes no Frequency 1 0.000000 0 0.000030 0.000184 0.000000 0.000000 0.000215 0.000000 0.000026 0.000000 0.000000 0.000215 3 1 0 0 1 0 1 0 0 99612 5430 17614 4474 4658 16564 37916 10408 2548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 194 Exomes transversion C G C>G 0.000 -0.602 H His CAC 0.587 Q Gln CAG 0.744 4173 12 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.22 III.91 166 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C12519G:p.H4173Q MUC4:NM_018406:exon2:c.C12519G:p.H4173Q . . 0.21568628 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.059 . . 306.0 . . . . . . . . . . -1.0232 -1.243 -1.023 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.042 0.002 . . 37 . 0.191 . . 0.176 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.116 . . 0 0 0 0 0 0 . 0.401 . . 0.429 . . . . . . 2 0.284 . . . . . 0.111 . 0.012 . HET . rs200161977 . . . . . . . . . . . . IV.73 . . . . . . E7ESK3 . . . . . 0.012 . . . 0.0002 3.012e-05 0 0 0.0002 0 2.637e-05 0 0 . . . . . . . . . . 0.372 . -0.530 -0.530000 . . . . . 1.0E-166 0.000 0.063 . 0.016 0.321 . 0.043 . 0.027 -0.530 0.000 . . . . . 1 1538 10 1/0 0,192,251 +rs148679127 3 195505944 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195505944 195505944 Chr3(GRCh37):g.195505944C>T 12507 12507 NM_018406.6:c.12507G>A p.Val4169= p.Val4169Val 2 158372 -284 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs148679127 yes no Frequency 1 0.000000 0 0.003914 0.049447 0.002421 0.001250 0.011100 0.000978 0.001672 0.001705 0.002615 0.049447 306 161 29 5 23 13 53 17 5 78186 3256 11980 4000 2072 13290 31706 9970 1912 0.000409 0.004300 0.000167 0.000000 0.000965 0.000301 0.000189 0.000401 0.000000 16 7 1 0 1 2 3 2 0 274 147 27 5 21 9 47 13 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.054 V Val GTG 0.468 V Val GTA 0.114 4169 255 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G12507A:p.V4169V MUC4:NM_018406:exon2:c.G12507A:p.V4169V . . 0.3705036 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 278.0 . . . . . . . . . . -0.8389 . . . . . . . . 9.383e-04 . . . 0.0178 0.0020 0 0 0 0 0 0.0002 0.0111 0.0011 0 0 0 0 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.15 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs148679127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0586 0.0040 0.0025 0.0013 0.0120 0.0018 0.0019 0.0029 0.0010 0.0213 0.0030 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199963450 rs199963450 1 1538 10 1/0 0,204,234 +rs200786826 3 195505945 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505945 195505945 Chr3(GRCh37):g.195505945A>G 12506 12506 NM_018406.6:c.12506T>C p.Val4169Ala p.Val4169Ala 2 158372 -285 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200786826 yes no Frequency 1 0.000000 0 0.001278 0.000993 0.001333 0.000968 0.007313 0.000698 0.001026 0.001605 0.001353 0.007313 112 5 19 4 19 10 36 16 3 87622 5034 14252 4132 2598 14326 35094 9968 2218 0.000137 0.000000 0.000000 0.000000 0.000770 0.000140 0.000114 0.000401 0.000000 6 0 0 0 1 1 2 2 0 100 5 19 4 17 8 32 12 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.690 V Val GTG 0.468 A Ala GCG 0.107 4169 12 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.63 III.91 255 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T12506C:p.V4169A MUC4:NM_018406:exon2:c.T12506C:p.V4169A . . 0.34736842 . . @ 99 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.016 . . 285.0 . . . . . . . . . . -1.0686 -1.231 -1.069 c . . . . . 4.704e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.398 . . exonic exonic exonic . . . @ . . . 0.21 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.057 0.003 . . 37 . 0.181 . . 0.103 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.378 . . 0.357 . . . . . . 2 0.020 . . . . . 0.047 . 0.024 . HET . rs200786826 . . . . . . . . . . . . II.24 . . . . . . E7ESK3 . . . . . 0.012 . . . 0.0011 0.0014 0.0014 0.0010 0.0079 0.0017 0.0012 0.0015 0.0007 0.0007 0.0001 0 0 0 0 0 0 . . 0.372 . 0.349 0.349000 . . . . . 1.0E-255 0.000 0.063 . 0.043 0.190 . 0.078 . 0.010 0.349 -0.653 . rs3107749 . rs200786826 rs200786826 1 1538 10 1/0 0,202,235 +rs112020305 3 195505960 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505960 195505960 Chr3(GRCh37):g.195505960G>C 12491 12491 NM_018406.6:c.12491C>G p.Thr4164Ser p.Thr4164Ser 2 158372 -300 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 New Acceptor Site 195505959 8.15491 0.639145 85.1096 rs112020305 yes no Frequency/1000G 2 0.000000 0 0.003395 0.012900 0.000000 0.000000 0.000000 0.000000 0.006139 0.000497 0.002223 0.027841 0.004490 0.010886 0.006368 0.006825 0.005329 0.027841 509 5 31 73 19 118 208 43 12 82906 10054 13942 2622 4232 10840 32664 6300 2252 0.000024 0.000000 0.000143 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 507 5 29 73 19 118 208 43 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.898 0.286 T Thr ACC 0.361 S Ser AGC 0.243 4164 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.46 IV.32 204 PASS . . . . . 0.013 0.0034 . . . . . MUC4:uc021xjp.1:exon2:c.C12491G:p.T4164S MUC4:NM_018406:exon2:c.C12491G:p.T4164S . . 0.1684492 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.030 . . 374.0 . . . . . . . . . . -1.0011 -1.186 -1.001 c . . . . . 6.717e-05 . . . 0.0008 0.0004 0 0 0.0294 0 0 0 0.0011 0.0004 0 0 0.0031 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . . 0.0034 . . . 0.2 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.198 . . 0.153 . . . . 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.206 . . 0 0 0 0 0 0 . 0.378 . . 0.357 . . . . . . 2 0.149 . . . . . 0.178 . 0.028 . HET . rs112020305 . . . . . . . . . . . . V.29 0.09403 . . . . . E7ESK3 . . . . . 0.046 . . . 0.0005 0.0073 0.0023 0.0293 0.0049 0.0081 0.0080 0.0059 0.0109 0.0004 0.0004 0 0 0 0.0009 0.0003 0.0026 . . 0.283 . 0.073 0.073000 . . . . . 1.0E-204 0.000 0.063 . 0.090 0.012 . 0.215 . 0.246 0.073 0.557 . . . rs376166 rs112020305 1 1538 10 1/0 0,175,255 +rs143382980 3 195506196 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506196 195506196 Chr3(GRCh37):g.195506196A>G 12255 12255 NM_018406.6:c.12255T>C p.Asp4085= p.Asp4085Asp 2 158372 -536 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs143382980 yes no Frequency/1000G 2 0.000000 0 0.013778 0.013600 0.039900 0.002000 0.009900 0.000000 0.003135 0.001107 0.003731 0.001370 0.012464 0.003221 0.002172 0.004139 0.005177 0.012464 284 8 55 5 43 44 79 38 12 90598 7228 14742 3650 3450 13660 36368 9182 2318 0.002759 0.000830 0.003527 0.001096 0.010435 0.002928 0.001815 0.003703 0.005177 125 3 26 2 18 20 33 17 6 34 2 3 1 7 4 13 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.134 0.044 D Asp GAT 0.461 D Asp GAC 0.539 4085 184 PASS 0.09 0.14 0.1 0.22 0.12 0.014 0.014 . 0.002 0.0099 0.04 . MUC4:uc021xjp.1:exon2:c.T12255C:p.D4085D MUC4:NM_018406:exon2:c.T12255C:p.D4085D . . 0.12179487 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . -0.8173 . . . . . . . . 4.983e-03 . . . 0.0007 0.0048 0.0037 0.0485 0.0119 0.0085 0 0.0006 0 0.0008 0.0051 0.0068 0.0038 0 0 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0138 . . . 0.19 0.15 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs143382980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0033 0.0038 0.0014 0.0131 0.0042 0.0023 0.0057 0.0032 0.0009 0.0013 0 0 0.0039 0.0037 0.0012 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.22 . . rs143382980 rs143382980 1 1538 10 1/0 0,209,255 +rs150394536 3 195506245 C A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506245 195506245 Chr3(GRCh37):g.195506245C>A 12206 12206 NM_018406.6:c.12206G>T p.Ser4069Ile p.Ser4069Ile 2 158372 -585 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506233 1.54995 0.052994 7.32029 0.233278 77.8499 rs150394536 yes no Frequency/1000G 2 0.000000 0 0.002995 0.003800 0.009200 0.001000 0.000000 0.000000 0.002504 0.000808 0.003497 0.001189 0.011160 0.002789 0.001424 0.003170 0.001929 0.011160 242 7 59 5 46 43 53 24 5 96664 8664 16870 4206 4122 15418 37220 7572 2592 0.001655 0.000462 0.002608 0.000951 0.008248 0.001816 0.000645 0.002641 0.000772 80 2 22 2 17 14 12 10 1 82 3 15 1 12 15 29 4 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.976 -0.198 S Ser AGC 0.243 I Ile ATC 0.481 4069 12 1 -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C0 353.86 0.00 Tolerated 0.06 IV.32 204 PASS 0.14 0.19 0.18 0.26 0.16 0.0038 0.003 . 0.001 . 0.0092 . MUC4:uc021xjp.1:exon2:c.G12206T:p.S4069I MUC4:NM_018406:exon2:c.G12206T:p.S4069I . . 0.16891892 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.109 . @ . . . . . 1 0.193 . . 148.0 . . . . . . . . . . -1.2392 -1.348 -1.239 c . . . . . . . . . 0.0015 0.0004 0 0.0208 0 0.0002 0 0 0.0020 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.515 . . exonic exonic exonic . . . 0.0030 . . . 0.23 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.310 . . . . 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.247 . . 0 0 0 0 0 0 . 0.131 . . 0.093 . . . . . . 2 0.721 . . . . . 0.070 . 0.078 . HET . rs150394536 . . . . . . . 0.18543956043956045 0.1402439024390244 0.17955801104972377 0.26223776223776224 0.15963060686015831 III.13 0.017045 . . . . . E7ESK3 . . . . . 0.014 . . . 0.0012 0.0028 0.0036 0.0012 0.0124 0.0037 0.0015 0.0018 0.0028 0.0003 0.0007 0 0 0 0.0007 0.0010 0.0027 . . 0.283 . 0.488 0.488000 . . . . . 1.0E-204 0.000 0.063 . 0.043 0.006 . 0.005 . 0.006 0.488 -0.677 0.26 . . rs150394536 rs150394536 1 1538 10 1/0 0,215,255 +rs199833358 3 195506267 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506267 195506267 Chr3(GRCh37):g.195506267C>T 12184 12184 NM_018406.6:c.12184G>A p.Ala4062Thr p.Ala4062Thr 2 158372 -607 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs1045994646 no no 0 0.000000 0 0.006589 0.012900 0.014300 0.001000 0.001000 0.000000 0.002453 0.000613 0.002505 0.001833 0.010997 0.002554 0.001749 0.003017 0.002912 0.010997 219 5 41 7 43 37 58 21 7 89264 8162 16364 3818 3910 14486 33160 6960 2404 0.000986 0.000245 0.000733 0.001572 0.002558 0.001243 0.000663 0.002299 0.000832 44 1 6 3 5 9 11 8 1 131 3 29 1 33 19 36 5 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 A Ala GCC 0.403 T Thr ACC 0.361 4062 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.07 IV.32 204 PASS . . . . . 0.013 0.0066 . 0.001 0.001 0.014 . MUC4:uc021xjp.1:exon2:c.G12184A:p.A4062T MUC4:NM_018406:exon2:c.G12184A:p.A4062T . . 0.16923077 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.262 . @ . . . . . 1 0.002 . . 130.0 . . . . . . . . . . -1.2891 -1.406 -1.289 c . . . . . 2.410e-04 . . . 0.0016 0.0005 0 0.0208 0 0.0006 0 0 0.0021 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.392 . . exonic exonic exonic . . . 0.0066 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.209 . . 0.231 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.119 . . 0.013 . . . . . . 2 0.111 . . . . . 0.035 . 0.021 . HET . rs199833358 . . . . . . . . . . . . 2.1447 0.080479 . . . . . E7ESK3 . . . . . 0.004 . . . 0.0006 0.0026 0.0026 0.0019 0.0118 0.0035 0.0018 0.0029 0.0026 0.0006 0.0011 0 0 0.0029 0.0008 0.0014 0.0031 . . 0.059 . -0.417 -0.417000 . . . . . 1.0E-204 0.000 0.063 . 0.128 0.007 . 0.051 . 0.006 -0.417 -0.281 . . . rs370995233 rs370995233 1 1538 10 1/0 0,221,255 +rs77023345 3 195506271 A T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506271 195506271 Chr3(GRCh37):g.195506271A>T 12180 12180 NM_018406.6:c.12180T>A p.Gly4060= p.Gly4060Gly 2 158372 -611 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs77023345 yes no Frequency/1000G 2 0.000000 0 0.005990 0.011300 0.013300 0.001000 0.001000 0.000000 0.001944 0.000227 0.002710 0.000718 0.008940 0.002087 0.001127 0.002567 0.001481 0.008940 193 2 47 3 41 32 43 21 4 99260 8800 17344 4176 4586 15334 38140 8180 2700 0.000645 0.000000 0.000807 0.000479 0.001744 0.000913 0.000262 0.001956 0.000000 32 0 7 1 4 7 5 8 0 129 2 33 1 33 18 33 5 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.008 0.690 G Gly GGT 0.162 G Gly GGA 0.246 4060 212 PASS 0.13 0.19 0.18 0.26 0.19 0.011 0.006 . 0.001 0.001 0.013 . MUC4:uc021xjp.1:exon2:c.T12180A:p.G4060G MUC4:NM_018406:exon2:c.T12180A:p.G4060G . . 0.18518518 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . -0.5431 . . . . . . . . . . . . 0.0018 0.0005 0 0.0208 0 0.0004 0 0 0.0023 0.0003 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0060 . . . 0.22 0.12 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200897653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0021 0.0028 0.0007 0.0097 0.0030 0.0012 0.0013 0.0021 0 0.0005 0 0 0 0.0007 0.0007 0.0026 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . 0.26 . . rs77023345 rs77023345 1 1538 10 1/0 0,224,255 +rs201839412 3 195506291 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506291 195506291 Chr3(GRCh37):g.195506291C>T 12160 12160 NM_018406.6:c.12160G>A p.Ala4054Thr p.Ala4054Thr 2 158372 -631 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201839412 yes no Frequency/1000G 2 0.000000 0 0.093451 0.062800 0.121700 0.040700 0.174000 0.072000 0.000248 0.000571 0.000193 0.000000 0.000227 0.000606 0.000166 0.000133 0.000000 0.000606 27 4 3 0 1 10 7 2 0 108878 7010 15578 5356 4398 16494 42256 15004 2782 0.000018 0.000000 0.000000 0.000000 0.000000 0.000121 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 25 4 3 0 1 8 7 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.700 A Ala GCT 0.263 T Thr ACT 0.243 4054 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Deleterious 0.04 IV.32 255 PASS . . . . . 0.063 0.093 0.072 0.041 0.17 0.12 . MUC4:uc021xjp.1:exon2:c.G12160A:p.A4054T MUC4:NM_018406:exon2:c.G12160A:p.A4054T . . 0.5555556 . . @ 50 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.180 . . 90.0 . . . . . . . . . . -1.8869 -2.000 -1.887 c . . . . . . . . . 0.0007 0.0021 0 0.0045 0.0139 0.0028 0 0.0017 0.0010 0.0013 0 0.0036 0.0024 0 0 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . . 0.0935 . . . 0.24 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.002 0.090 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.137 . . 0.199 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.151 . . 0.127 . . . . . . 2 0.010 . . . . . 0.048 . 0.014 . HET . rs201839412 . . . . . . . . . . . . 2.719 . . . . . . E7ESK3 . . . . . 0.003 . . . 0.0002 0.0002 0.0001 0 0 0 7.842e-05 0 0.0006 0.0011 0.0012 0.0029 0 0.0027 0.0018 0.001 0 . . 0.059 . -2.653 -2.653000 . . . . . 1.0E-255 0.000 0.063 . 0.062 0.557 . 0.005 . 0.004 -2.653 0.537 . rs62282475 . . . 1 1538 10 1/0 0,255,255 +rs201191776 3 195506292 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506292 195506292 Chr3(GRCh37):g.195506292A>G 12159 12159 NM_018406.6:c.12159T>C p.Asn4053= p.Asn4053Asn 2 158372 -632 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201191776 yes no Frequency/1000G 2 0.000000 0 0.118011 0.099800 0.151300 0.056500 0.193800 0.085000 0.000645 0.004237 0.000257 0.000000 0.000405 0.000805 0.000368 0.000259 0.000000 0.004237 53 24 3 0 1 10 12 3 0 82116 5664 11680 3602 2472 12426 32598 11578 2096 0.000219 0.002119 0.000000 0.000000 0.000000 0.000161 0.000123 0.000000 0.000000 9 6 0 0 0 1 2 0 0 35 12 3 0 1 8 8 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.125 N Asn AAT 0.464 N Asn AAC 0.536 4053 255 PASS . . . . . 0.1 0.12 0.085 0.057 0.19 0.15 . MUC4:uc021xjp.1:exon2:c.T12159C:p.N4053N MUC4:NM_018406:exon2:c.T12159C:p.N4053N . . 0.59770113 . . @ 52 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.4822 . . . . . . . . 1.895e-03 . . . 0.0023 0.0029 0 0.0065 0.0143 0.0036 0 0.0023 0.0031 0.0019 0 0.0050 0.0029 0 0 0.0023 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1180 . . . 0.22 0.12 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201191776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0004 0.0002 0 0 0 0.0003 0 0.0008 0.0049 0.0027 0.0035 0 0.0036 0.0033 0.0012 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201191776 rs201191776 1 1538 10 1/0 0,255,255 +rs199596856 3 195506293 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506293 195506293 Chr3(GRCh37):g.195506293T>C 12158 12158 NM_018406.6:c.12158A>G p.Asn4053Ser p.Asn4053Ser 2 158372 -633 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 New Acceptor Site 195506292 9.26334 0.46391 80.0861 rs199596856 yes no Frequency/1000G 2 0.000000 0 0.083467 0.052200 0.094100 0.041700 0.171000 0.062000 transition A G A>G 0.000 -0.360 N Asn AAT 0.464 S Ser AGT 0.149 4053 12 1 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.14 IV.32 255 PASS . . . . . 0.052 0.084 0.062 0.042 0.17 0.094 . MUC4:uc021xjp.1:exon2:c.A12158G:p.N4053S MUC4:NM_018406:exon2:c.A12158G:p.N4053S . . 0.4893617 . . @ 46 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.010 . . 94.0 . . . . . . . . . . -1.4294 -1.546 -1.429 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.269 . . exonic exonic exonic . . . 0.0835 . . . 0.27 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.112 . . 0.326 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.042 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.258 . . . . . 0.021 . 0.003 . HET . rs199596856 . . . . . . . . . . . . I.93 . . . . . . E7ESK3 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.059 . -0.423 -0.423000 . . . . . 1.0E-255 0.000 0.063 . 0.083 0.588 . 0.036 . 0.006 -0.423 -0.665 . . . . . 1 1538 10 1/0 0,255,255 +rs202108568 3 195506302 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506302 195506302 Chr3(GRCh37):g.195506302G>T 12149 12149 NM_018406.6:c.12149C>A p.Pro4050His p.Pro4050His 2 158372 -642 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs202108568 yes no Frequency 1 0.000000 0 0.000995 0.001205 0.000379 0.001458 0.000000 0.002722 0.000927 0.000000 0.001430 0.002722 135 13 8 9 0 53 47 0 5 135704 10786 21122 6174 7940 19474 50690 16022 3496 0.000383 0.000556 0.000000 0.000324 0.000000 0.000924 0.000473 0.000000 0.000572 26 3 0 1 0 9 12 0 1 83 7 8 7 0 35 23 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.016 1.255 P Pro CCT 0.283 H His CAT 0.413 4050 12 1 -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 353.86 0.00 Deleterious 0.01 IV.32 160 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C12149A:p.P4050H MUC4:NM_018406:exon2:c.C12149A:p.P4050H . . 0.11016949 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.172 . @ . . . . . 1 0.142 . . 118.0 . . . . . . . . . . -1.2586 -1.380 -1.259 c . . . . . 9.275e-04 . . . 0.0021 0.0023 0 0 0 0.0009 0 0.0039 0.0020 0.0026 0 0 0 0.0016 0 0.0039 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.354 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.202 . . 0.238 . . . . 0.186 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.238 . . 0.173 . . . . . . 2 0.546 . . . . . 0.223 . 0.045 . LowAF . rs202108568 . . . . . . . . . . . . VI.67 0.003534 . . . . . E7ESK3 . . . . . 0.009 . . . 0.0012 0.0010 0.0004 0.0015 0 0 0.0009 0.0016 0.0027 0.0013 0.0007 0 0 0 0 0.0008 0 . . 0.059 . 0.488 0.488000 . . . . . 1.0E-160 0.000 0.063 . 0.150 0.715 . 0.107 . 0.193 0.488 0.000 . . . . . 1 1538 10 1/0 0,224,255 +rs878859422 3 195506306 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506306 195506306 Chr3(GRCh37):g.195506306G>C 12145 12145 NM_018406.6:c.12145C>G p.Leu4049Val p.Leu4049Val 2 158372 -646 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs878859422 no no 0 0.000000 0 0.000209 0.000590 0.000258 0.000000 0.000097 0.000194 0.000162 0.000251 0.000000 0.000590 31 7 6 0 1 4 9 4 0 148384 11862 23226 6920 10356 20612 55490 15952 3966 0.000067 0.000169 0.000086 0.000000 0.000000 0.000097 0.000036 0.000125 0.000000 5 1 1 0 0 1 1 1 0 21 5 4 0 1 2 7 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.602 L Leu CTT 0.129 V Val GTT 0.178 4049 12 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.14 IV.32 248 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C12145G:p.L4049V MUC4:NM_018406:exon2:c.C12145G:p.L4049V . . 0.2919708 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.067 . . 137.0 . . . . . . . . . . -1.1089 -1.298 -1.109 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.363 . . exonic exonic exonic . . 0.089 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.188 . . 0.158 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.047 . . 0 0 0 0 0 0 . 0.378 . . 0.357 . . . . . . 2 0.020 . . . . . 0.118 . 0.014 . HET . . . . . . . . . . . . . . IV.65 . . 0.613 -1.23 . . E7ESK3 . . . . . 0.005 . . . 0.0008 0.0002 0.0003 0 0.0001 0.0003 0.0002 0 0.0002 0.0002 6.843e-05 0 0 0 0 0 0 . . 0.059 . -0.401 -0.401000 . . . . . 1.0E-248 0.001 0.137 . 0.152 0.756 . 0.236 . 0.193 -0.401 0.557 . . . . . 1 1538 10 1/0 0,234,255 +rs62282465 3 195506315 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506315 195506315 Chr3(GRCh37):g.195506315T>C 12136 12136 NM_018406.6:c.12136A>G p.Thr4046Ala p.Thr4046Ala 2 158372 -655 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs62282465 yes no Frequency/1000G 2 0.000000 0 0.112021 0.081700 0.128800 0.059500 0.199800 0.095100 0.005910 0.002002 0.005297 0.008523 0.028874 0.006112 0.004345 0.004795 0.005506 0.028874 661 17 90 45 139 100 187 67 16 111848 8490 16990 5280 4814 16360 43034 13974 2906 0.000715 0.000942 0.000235 0.001515 0.000415 0.000978 0.000697 0.000859 0.000000 40 4 2 4 1 8 15 6 0 581 9 86 37 137 84 157 55 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.198 T Thr ACC 0.361 A Ala GCC 0.403 4046 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.38 IV.32 255 PASS . . . . . 0.082 0.11 0.095 0.059 0.2 0.13 . MUC4:uc021xjp.1:exon2:c.A12136G:p.T4046A MUC4:NM_018406:exon2:c.A12136G:p.T4046A . . 0.6086956 . . @ 70 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.111 . . 115.0 . . . . . . . . . . -1.0418 -1.169 -1.042 c . . . . . . . . . 0.0014 0.0082 0.0112 0.0593 0.0143 0.0095 0 0.0064 0.0010 0.0061 0.0152 0.0380 0.0013 0.0065 0 0.0064 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.299 . . exonic exonic exonic . . 0.167 0.1120 . . . 0.3 0.21 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . 0.134 . . . . . . . . . 37 . 0.135 . . 0.161 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.232 . . 0 0 0 0 0 0 . 0.334 . . 0.223 . . . . . . 2 0.052 . . . . . 0.071 . 0.020 . HET . rs201554885 . . . . . . . . . . . . III.23 0.010714 . 0.613 0.613 . . E7ESK3 . . . . . 0.023 . . . 0.0029 0.0065 0.0054 0.0087 0.0315 0.0053 0.0049 0.0059 0.0061 0.0008 0.0004 0 0 0 0 0.0002 0.0027 . . 0.059 . 0.522 0.522000 . . . . . 1.0E-255 0.000 0.063 . 0.154 0.741 . 0.076 . 0.193 0.522 0.000 . rs62282465 . rs62282465 rs62282465 1 1538 10 1/0 0,255,255 +rs62282466 3 195506318 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506318 195506318 Chr3(GRCh37):g.195506318C>G 12133 12133 NM_018406.6:c.12133G>C p.Asp4045His p.Asp4045His 2 158372 -658 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs62282466 yes no Frequency/1000G 2 0.000000 0 0.115016 0.090000 0.131900 0.060500 0.199800 0.095100 0.008029 0.006339 0.008221 0.010504 0.046855 0.008079 0.005516 0.005474 0.006963 0.046855 717 33 106 45 143 110 196 68 16 89302 5206 12894 4284 3052 13616 35530 12422 2298 0.000829 0.001537 0.000465 0.001867 0.000655 0.001175 0.000619 0.000966 0.000000 37 4 3 4 1 8 11 6 0 643 25 100 37 141 94 174 56 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.732 D Asp GAC 0.539 H His CAC 0.587 4045 12 1 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 353.86 0.00 Tolerated 0.16 IV.32 255 PASS 0.17 0.2 0.16 0.25 0.21 0.09 0.12 0.095 0.06 0.2 0.13 . MUC4:uc021xjp.1:exon2:c.G12133C:p.D4045H MUC4:NM_018406:exon2:c.G12133C:p.D4045H . . 0.59292036 . . @ 67 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.028 . . 113.0 . . . . . . . . . . -1.3958 -1.520 -1.396 c . . . . . . . . . 0.0032 0.0086 0.0127 0.0571 0.0167 0.0099 0 0.0065 0.0034 0.0067 0.0169 0.0423 0.0014 0.0070 0 0.0066 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.089 0.1150 . . . 0.24 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.053 . . . . . . . Benign . 0 . 0.098 . . . . . . . . . 37 . 0.000 . . 0.404 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 2 0.128 . . . . . 0.001 . 0.045 . HET . rs536864339 . . . . . . . 0.20238095238095238 0.17479674796747968 0.1574585635359116 0.2465034965034965 0.20844327176781002 0.1337 0.094643 . 0.613 -1.23 . . E7ESK3 . . . . . 0.002 . . . 0.0078 0.0087 0.0085 0.0106 0.0518 0.0058 0.0061 0.0076 0.0081 0.0044 0.0022 0 0 0.0032 0.0024 0.0010 0.0032 . . 0.059 . -1.325 -1.325000 . . . . . 1.0E-255 0.000 0.063 . 0.157 0.731 . 0.018 . 0.188 -1.325 0.000 0.25 rs62282466 . rs62282466 rs62282466 1 1538 10 1/0 0,255,255 +rs202026273 3 195506510 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506510 195506510 Chr3(GRCh37):g.195506510G>C 11941 11941 NM_018406.6:c.11941C>G p.His3981Asp p.His3981Asp 2 158372 -850 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195506513 3.34011 0.32653 72.4027 7.66477 0.682296 77.9229 rs202026273 yes no Frequency/1000G 2 0.000000 0 0.060903 0.051400 0.063400 0.027800 0.120300 0.037500 0.000570 0.000577 0.000193 0.002005 0.000000 0.001194 0.000495 0.000273 0.000000 0.002005 56 4 3 9 0 18 19 3 0 98290 6928 15542 4488 4338 15080 38354 10982 2578 0.000285 0.000289 0.000000 0.001783 0.000000 0.000531 0.000209 0.000182 0.000000 14 1 0 4 0 4 4 1 0 28 2 3 1 0 10 11 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -2.700 H His CAC 0.587 D Asp GAC 0.539 3981 12 2 Mouse 0 -1 -2 0.58 I.38 10.IV 13 96 54 81 C0 353.86 0.00 Deleterious 0 IV.32 251 PASS . . . . . 0.051 0.061 0.037 0.028 0.12 0.063 . MUC4:uc021xjp.1:exon2:c.C11941G:p.H3981D MUC4:NM_018406:exon2:c.C11941G:p.H3981D . . 0.3125 . . @ 15 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.042 . . 48.0 . . . . . . . . . . -1.7631 -1.929 -1.763 c . . . . . . . . . 0.0039 0.0078 0.0041 0 0 0.0068 0.0139 0.0100 0.0061 0.0071 0.0054 0 0.0024 0.0033 0.0132 0.0100 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . . 0.0609 . . . 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.002 0.091 . . . . . . . Benign . 0 . 0.098 . . . . . . . . . 37 . 0.174 . . 0.245 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.025 . . 0 0 0 0 0 0 . 0.317 . . 0.399 . . . . . . 2 0.010 . . . . . 0.068 . 0.062 . HET . rs202026273 . . . . . . . . . . . . III.86 . . . . . . E7ESK3 . . . . . 0.003 . . . 0.0005 0.0006 6.599e-05 0.0020 0 0.0002 0.0005 0 0.0012 0.0007 0.0007 0.0052 0 0 0.0009 0.0005 0 . . 0.059 . -2.711 -2.711000 . . . . . 1.0E-251 0.000 0.063 . 0.120 0.015 . 0.011 . 0.003 -2.711 -2.200 . . . rs202026273 rs202026273 1 1538 10 1/0 0,255,255 +rs187734372 3 195506514 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506514 195506514 Chr3(GRCh37):g.195506514T>G 11937 11937 NM_018406.6:c.11937A>C p.Thr3979= p.Thr3979Thr 2 158372 -854 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs187734372 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000800 0.000000 0.001000 0.000000 0.000000 0.000090 0.000000 0.000108 0.000220 0.000000 0.000122 0.000094 0.000000 0.000341 0.000220 10 0 2 1 0 2 4 0 1 111040 8806 18528 4548 6348 16416 42530 10928 2936 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 1 0 0 0 0 0 1 0 0 8 0 2 1 0 2 2 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -0.037 T Thr ACA 0.280 T Thr ACC 0.361 3979 240 PASS 0.03 0.05 0.04 0.08 0.03 0.0008 0.0004 . 0.001 . . . MUC4:uc021xjp.1:exon2:c.A11937C:p.T3979T MUC4:NM_018406:exon2:c.A11937C:p.T3979T . . 0.2777778 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.3849 . . . . . . . . 1.530e-03 . . . 0 0.0002 0.0042 0 0 0.0003 0 0 0 0.0002 0.0056 0 0 0.0005 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.29 0.23 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs187734372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0.0001 0.0002 0 0 0.0001 0.0004 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . 0.08 . . rs187734372 rs187734372 1 1538 10 1/0 0,255,255 +. 3 195506517 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506517 195506517 Chr3(GRCh37):g.195506517G>A 11934 11934 NM_018406.6:c.11934C>T p.Ser3978= p.Ser3978Ser 2 158372 -857 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 0.000009 0.000000 0.000054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000054 1 0 1 0 0 0 0 0 0 110942 9036 18428 4796 5986 16320 41924 11524 2928 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.024 -0.763 S Ser TCC 0.220 S Ser TCT 0.185 3978 233 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11934T:p.S3978S MUC4:NM_018406:exon2:c.C11934T:p.S3978S . . 0.25490198 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.5060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.007e-05 5.564e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199874579 3 195506521 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506521 195506521 Chr3(GRCh37):g.195506521G>A 11930 11930 NM_018406.6:c.11930C>T p.Ala3977Val p.Ala3977Val 2 158372 -861 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506512 2.69504 0.623307 3.86683 0.715767 rs199874579 yes no Frequency/1000G 2 0.000000 0 0.043331 0.045400 0.047000 0.012900 0.072600 0.036000 0.000093 0.000590 0.000253 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000590 9 4 4 0 0 0 0 1 0 96414 6782 15798 4156 4176 14614 37178 11240 2470 0.000062 0.000295 0.000253 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 1 2 0 0 0 0 0 0 3 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 0.044 A Ala GCA 0.226 V Val GTA 0.114 3977 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.16 IV.32 255 PASS . . . . . 0.045 0.043 0.036 0.013 0.073 0.047 . MUC4:uc021xjp.1:exon2:c.C11930T:p.A3977V MUC4:NM_018406:exon2:c.C11930T:p.A3977V . . 0.33333334 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.285 . . 45.0 . . . . . . . . . . -1.8701 -1.952 -1.870 c . . . . . . . . . 0.0031 0.0003 0 0 0 0 0 0 0.0016 0.0001 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . . 0.0433 . . . 0.28 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.120 . . 0.278 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.126 . . 0.063 . . . . . . 2 0.051 . . . . . 0.145 . 0.034 . HET . rs199874579 . . . . . . . . . . . . V.22 0.011111 . . . . . E7ESK3 . . . . . 0.012 . . . 0.0011 9.333e-05 0.0003 0 0 0 0 0 0 0 9.346e-05 0 0 0 0.0007 0 0 . . 0.059 . -1.711 -1.711000 . . . . . 1.0E-255 0.001 0.137 . 0.157 0.104 . 0.150 . 0.246 -1.711 -0.617 . . . rs199874579 rs199874579 1 1538 10 1/0 0,255,255 +rs536593912 3 195506531 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506531 195506531 Chr3(GRCh37):g.195506531G>T 11920 11920 NM_018406.6:c.11920C>A p.Arg3974Ser p.Arg3974Ser 2 158372 -871 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 New Acceptor Site 195506529 6.25932 0.504015 rs536593912 yes no Frequency/1000G 2 0.000000 0 0.012780 0.032500 0.000000 0.003000 0.014900 0.004300 0.000240 0.000723 0.000000 0.000723 0.002218 0.000206 0.000086 0.000000 0.000000 0.002218 22 4 0 3 9 3 3 0 0 91622 5536 15740 4152 4058 14548 34904 10310 2374 0.000109 0.000361 0.000000 0.000482 0.001479 0.000000 0.000000 0.000000 0.000000 5 1 0 1 3 0 0 0 0 12 2 0 1 3 3 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.893 R Arg CGT 0.082 S Ser AGT 0.149 3974 12 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Tolerated 0.39 IV.32 255 PASS . . . . . 0.033 0.013 0.0043 0.003 0.015 . . MUC4:uc021xjp.1:exon2:c.C11920A:p.R3974S MUC4:NM_018406:exon2:c.C11920A:p.R3974S . . 0.35 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.024 . . 40.0 . . . . . . . . . . -2.0290 -2.131 -2.029 c . . . . . 1.612e-03 . . . 0 0.0012 0 0 0 0.0006 0 0.0020 0 0.0014 0 0.0154 0 0.0005 0 0.0020 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.510 . . exonic exonic exonic . . . 0.0128 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.055 . 5 7.69515e-05 64976 1 1.66706e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.230 . . 0.163 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.064 . . 0 0 0 0 0 0 . 0.184 . . 0.063 . . . . . . 2 0.241 . . . . . 0.194 . 0.124 . HET . rs536593912 . . . . . . . . . . . . 6.1553 . . . . . . E7ESK3 . . . . . 0.002 . . . 0.0009 0.0002 0 0.0007 0.0022 0 9.701e-05 0 0.0002 0.0005 0.0002 0 0 0.0026 0 0 0 . . 0.059 . -2.068 -2.068000 . . . . . 1.0E-255 0.000 0.063 . 0.016 0.029 . 0.044 . 0.001 -2.068 -2.009 . . . . . 1 1538 10 1/0 0,255,255 +rs200412534 3 195506542 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506542 195506542 Chr3(GRCh37):g.195506542G>T 11909 11909 NM_018406.6:c.11909C>A p.Pro3970His p.Pro3970His 2 158372 -882 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200412534 yes no Frequency/1000G 2 0.000000 0 0.120607 0.110400 0.140100 0.052600 0.194800 0.103700 0.002495 0.005066 0.002332 0.001162 0.002613 0.001270 0.003343 0.000406 0.003110 0.005066 279 39 44 6 18 22 136 5 9 111836 7698 18866 5162 6888 17318 40688 12322 2894 0.000089 0.000779 0.000106 0.000000 0.000000 0.000000 0.000049 0.000000 0.000000 5 3 1 0 0 0 1 0 0 269 33 42 6 18 22 134 5 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -0.037 P Pro CCT 0.283 H His CAT 0.413 3970 12 1 -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 353.86 0.00 Deleterious 0.01 IV.32 255 PASS . . . . . 0.11 0.12 0.1 0.053 0.19 0.14 . MUC4:uc021xjp.1:exon2:c.C11909A:p.P3970H MUC4:NM_018406:exon2:c.C11909A:p.P3970H . . 0.41666666 . . @ 30 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.160 . @ . . . . . 1 0.160 . . 72.0 . . . . . . . . . . -0.6473 -0.932 -0.647 c . . . . . . . . . 0.0021 0.0003 0 0 0 0.0003 0 0 0.0031 0.0006 0 0 0.0038 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.346 . . exonic exonic exonic . . . 0.1206 . . . 0.21 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.376 . . 0.198 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.764 . . 0.774 . . . . . . 2 0.501 . . . . . 0.213 . 0.051 . HET . rs200412534 . . . . . . . . . . . . VI.41 0.016556 . . . . . E7ESK3 . . . . . 0.017 . . . 0.0036 0.0025 0.0024 0.0012 0.0028 0.0005 0.0036 0.0035 0.0013 0.0070 0.0028 0 0 0 0 0.0015 0 . . 0.283 . 0.419 0.419000 . . . . . 1.0E-255 0.000 0.063 . 0.074 0.044 . 0.134 . 0.246 0.419 0.060 . . . rs200412534 rs200412534 1 1538 10 1/0 0,255,255 +. 3 195506723 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506723 195506723 Chr3(GRCh37):g.195506723T>C 11728 11728 NM_018406.6:c.11728A>G p.Thr3910Ala p.Thr3910Ala 2 158372 -1063 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506713 4.08677 0.091453 71.6229 4.87568 0.192144 71.6229 0.000010 0.000000 0.000000 0.000000 0.000000 0.000066 0.000000 0.000000 0.000000 0.000066 1 0 0 0 0 1 0 0 0 97852 6998 16256 4124 3826 15192 38240 10664 2552 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.591 -2.619 T Thr ACT 0.243 A Ala GCT 0.263 3910 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0.04 IV.32 182 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11728G:p.T3910A MUC4:NM_018406:exon2:c.A11728G:p.T3910A . . 0.11570248 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.065 . . 121.0 . . . . . . . . . . -1.9946 -2.103 -1.995 c . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.336 . . exonic exonic exonic . . . @ . . . 0.28 0.21 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.086 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.169 0.006 . . 37 . 0.162 . . 0.174 . . . . 0.537 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.152 . . 0 0 0 0 0 0 . 0.135 . . 0.080 . . . . . . 2 0.574 . . . . . 0.035 . 0.016 . LowAF . . . . . . . . . . . . . . 2.1529 . . . . . . E7ESK3 . . . . . 0.007 . . . 0 1.118e-05 0 0 0 0 0 0 6.582e-05 0 0 0 0 0 0 0 0 . . 0.283 . -2.418 -2.418000 . . . . . 1.0E-182 0.000 0.063 . 0.100 0.008 . 0.004 . 0.006 -2.418 -1.866 . . . . . 1 1538 10 1/0 0,221,255 +rs878968946 3 195506740 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506740 195506740 Chr3(GRCh37):g.195506740G>C 11711 11711 NM_018406.6:c.11711C>G p.Pro3904Arg p.Pro3904Arg 2 158372 -1080 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs878968946 yes no Frequency/1000G 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120462 5788 20566 5642 9576 19032 44310 12424 3124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 143 Exomes transversion C G C>G 0.520 0.286 P Pro CCT 0.283 R Arg CGT 0.082 3904 12 1 -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0.01 IV.32 219 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11711G:p.P3904R MUC4:NM_018406:exon2:c.C11711G:p.P3904R . . 0.20634921 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.160 . @ . . . . . 1 0.074 . . 126.0 . . . . . . . . . . -1.2464 -1.362 -1.246 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.154 . . 0.282 . . . . 0.243 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.151 . . 0.063 . . . . . . 2 0.682 . . . . . 0.047 . 0.051 . HET . rs202189235 . . . . . . . . . . . . II.46 . . . . . . E7ESK3 . . . . . 0.035 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.283 . 0.064 0.064000 . . . . . 1.0E-219 0.000 0.063 . 0.120 0.010 . 0.118 . 0.196 0.064 -0.219 . . . . . 1 1538 10 1/0 0,227,255 +rs192522651 3 195506746 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506746 195506746 Chr3(GRCh37):g.195506746G>A 11705 11705 NM_018406.6:c.11705C>T p.Ala3902Val p.Ala3902Val 2 158372 -1086 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs192522651 yes no Frequency/1000G 2 0.000000 0 0.000211 0.000000 0.000320 0.000511 0.002332 0.000139 0.000055 0.000096 0.000000 0.002332 20 0 5 2 8 2 2 1 0 94616 7838 15642 3916 3430 14388 36562 10408 2432 0.000169 0.000000 0.000256 0.000511 0.001749 0.000139 0.000055 0.000000 0.000000 8 0 2 1 3 1 1 0 0 4 0 1 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.370 -0.279 A Ala GCC 0.403 V Val GTC 0.240 3902 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.07 IV.32 194 PASS 0.02 0.05 0.05 0.1 0.03 . . . . . . . MUC4:uc021xjp.1:exon2:c.C11705T:p.A3902V MUC4:NM_018406:exon2:c.C11705T:p.A3902V . . 0.14166667 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.083 . @ . . . . . 1 0.227 . . 120.0 . . . . . . . . . . -1.2326 -1.355 -1.233 c . . . . . 3.896e-04 . . . 0 0.0001 0 0 0 0.0004 0 0 0 0.0001 0 0 0 0.0006 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . . @ . . . 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.004 . . 0.246 . . . . 0.241 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.152 . . 0 0 0 0 0 0 . 0.228 . . 0.093 . . . . . . 2 0.524 . . . . . 0.051 . 0.059 . LowAF . rs192522651 . . . . . . . 0.04945054945054945 0.016260162601626018 0.052486187845303865 0.0979020979020979 0.032981530343007916 II.56 0.005814 . . . . . E7ESK3 . . . . . 0.026 . . . 0 0.0002 0.0003 0.0005 0.0022 0.0001 6.231e-05 0 0.0001 0 0.0001 0 0 0.0035 0 0 0 . . 0.059 . 0.064 0.064000 . . . . . 1.0E-194 0.007 0.175 . 0.083 0.016 . 0.175 . 0.196 0.064 -0.219 0.1 . . rs192522651 rs192522651 1 1538 10 1/0 0,223,255 +rs62282470 3 195506747 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506747 195506747 Chr3(GRCh37):g.195506747C>T 11704 11704 NM_018406.6:c.11704G>A p.Ala3902Thr p.Ala3902Thr 2 158372 -1087 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs62282470 yes no Frequency/1000G 2 0.000000 0 0.110423 0.028700 0.161600 0.053600 0.225600 0.109500 0.000802 0.001384 0.000250 0.003035 0.000428 0.000908 0.000913 0.000000 0.001232 0.003035 102 12 5 17 4 17 43 0 4 127208 8672 20004 5602 9342 18722 47106 14514 3246 0.000079 0.000231 0.000000 0.000000 0.000214 0.000107 0.000085 0.000000 0.000000 5 1 0 0 1 1 2 0 0 92 10 5 17 2 15 39 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.291 -2.216 A Ala GCC 0.403 T Thr ACC 0.361 3902 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.38 IV.32 255 PASS 0.08 0.09 0.07 0.06 0.13 0.029 0.11 0.11 0.054 0.23 0.16 . MUC4:uc021xjp.1:exon2:c.G11704A:p.A3902T MUC4:NM_018406:exon2:c.G11704A:p.A3902T . . 0.66972476 . . @ 73 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.142 . @ . . . . . 1 0.131 . . 109.0 . . . . . . . . . . -1.8627 -1.986 -1.863 c . . . . . . . . . 0.0035 0.0019 0.0038 0 0 0.0022 0 0.0012 0.0054 0.0014 0 0 0 0.0015 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . . 0.1104 . ENSG00000215837.7 Artery_Tibial 0.22 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.068 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.002 . . 0.191 . . . . 0.212 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.028 . . 0 0 0 0 0 0 . 0.269 . . 0.063 . . . . . . 2 0.010 . . . . . 0.036 . 0.028 . HET . rs200436603 . . . . . . . 0.09386446886446886 0.07926829268292683 0.07458563535911603 0.06468531468531469 0.1345646437994723 2.1866 0.007752 . . . . . E7ESK3 . . . . . 0.002 . . . 0.0011 0.0008 0.0003 0.0031 0.0005 0 0.0009 0.0014 0.0009 0.0018 0.0009 0 0 0 0 0.0008 0 . . 0.059 . -2.037 -2.037000 . . . . . 1.0E-255 0.004 0.165 . 0.062 0.018 . 0.143 . 0.004 -2.037 -1.877 0.13 rs62282470 . rs62282470 rs62282470 1 1538 10 1/0 0,255,255 +rs62282471 3 195506750 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506750 195506750 Chr3(GRCh37):g.195506750G>C 11701 11701 NM_018406.6:c.11701C>G p.His3901Asp p.His3901Asp 2 158372 -1090 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195506753 0.001699 59.0917 1.35045 0.057392 64.6118 rs62282471 yes no Frequency/1000G 2 0.000000 0 0.110423 0.028700 0.161600 0.053600 0.225600 0.109500 0.000628 0.001178 0.000143 0.002651 0.000291 0.000714 0.000680 0.000000 0.001140 0.002651 85 11 3 16 3 14 34 0 4 135262 9336 21006 6036 10314 19602 50000 15460 3508 0.000044 0.000214 0.000000 0.000000 0.000194 0.000000 0.000040 0.000000 0.000000 3 1 0 0 1 0 1 0 0 79 9 3 16 1 14 32 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.220 -2.377 H His CAC 0.587 D Asp GAC 0.539 3901 12 1 0 -1 -2 0.58 I.38 10.IV 13 96 54 81 C0 353.86 0.00 Tolerated 0.38 IV.32 255 PASS 0.02 0.04 0.04 0.01 0.07 0.029 0.11 0.11 0.054 0.23 0.16 . MUC4:uc021xjp.1:exon2:c.C11701G:p.H3901D MUC4:NM_018406:exon2:c.C11701G:p.H3901D . . 0.6551724 . . @ 76 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.175 . @ . . . . . 1 0.168 . . 116.0 . . . . . . . . . . -2.0105 -2.121 -2.010 c . . . . . . . . . 0.0035 0.0016 0.0038 0 0 0.0022 0 0.0007 0.0054 0.0012 0 0 0 0.0015 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . . 0.1104 . ENSG00000242086.4|ENSG00000215837.7|ENSG00000215837.7|ENSG00000271662.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000215837.7|ENSG00000215837.7|ENSG00000271662.1|ENSG00000215837.7 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.076 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.010 . . 0.189 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . 0.151 . . 0.013 . . . . . . 2 0.010 . . . . . 0.159 . 0.039 . HET . rs201713696 . . . . . . . 0.039377289377289376 0.022357723577235773 0.04419889502762431 0.01048951048951049 0.06992084432717678 V.44 0.003922 . . . . . E7ESK3 . . . . . 0.004 . . . 0.0007 0.0006 0.0001 0.0027 0.0003 0 0.0007 0.0013 0.0007 0.0019 0.0009 0 0 0 0 0.0008 0 . . 0.059 . -2.418 -2.418000 . . . . . 1.0E-255 0.000 0.063 . 0.043 0.033 . 0.029 . 0.003 -2.418 -2.254 0.07 rs62282471 . rs62282471 rs62282471 1 1538 10 1/0 0,255,255 +rs879667630 3 195506752 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506752 195506752 Chr3(GRCh37):g.195506752C>T 11699 11699 NM_018406.6:c.11699G>A p.Arg3900His p.Arg3900His 2 158372 -1092 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs879667630 yes no Frequency/1000G 2 0.000000 0 0.012580 0.000000 0.039900 0.003000 0.014900 0.008600 transition G A G>A 0.213 -0.198 R Arg CGT 0.082 H His CAT 0.413 3900 12 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Deleterious 0.02 IV.32 222 PASS . . . . . . 0.013 0.0086 0.003 0.015 0.04 . MUC4:uc021xjp.1:exon2:c.G11699A:p.R3900H MUC4:NM_018406:exon2:c.G11699A:p.R3900H . . 0.21621622 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.188 . @ . . . . . 1 0.139 . . 111.0 . . . . . . . . . . -1.1344 -1.288 -1.134 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.307 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.115 . . 0.190 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.357 . . 0.112 . . . . . . 2 0.327 . . . . . 0.051 . 0.024 . HET . rs199792563 . . . . . . . . . . . . II.56 . . . . . . E7ESK3 . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.059 . 0.064 0.064000 . . . . . 1.0E-222 0.000 0.063 . 0.074 0.045 . 0.063 . 0.192 0.064 0.057 . . . . . 1 1538 10 1/0 0,233,255 +rs62282473 3 195506760 T A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506760 195506760 Chr3(GRCh37):g.195506760T>A 11691 11691 NM_018406.6:c.11691A>T p.Ala3897= p.Ala3897Ala 2 158372 -1100 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506761 3.68278 0.031374 71.6229 4.08677 0.122816 71.6229 rs62282473 yes no Frequency/1000G 2 0.000000 0 0.098243 0.016600 0.149300 0.052600 0.200800 0.099400 0.000100 0.000318 0.000046 0.000000 0.000096 0.000050 0.000136 0.000000 0.000275 0.000318 14 3 1 0 1 1 7 0 1 140094 9442 21828 6994 10468 19824 51456 16444 3638 0.000014 0.000212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 12 1 1 0 1 1 7 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.449 -0.198 A Ala GCA 0.226 A Ala GCT 0.263 3897 255 PASS 0.01 0.03 0.06 0.02 0.05 0.017 0.098 0.099 0.053 0.2 0.15 . MUC4:uc021xjp.1:exon2:c.A11691T:p.A3897A MUC4:NM_018406:exon2:c.A11691T:p.A3897A . . 0.7291667 . . @ 105 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 144.0 . . . . . . . . . . -0.4954 . . . . . . . . 9.723e-05 . . . 0.0017 0.0003 0 0 0 0.0002 0 0 0.0027 0.0002 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0982 . . . 0.29 0.2 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs62282473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 9.375e-05 4.686e-05 0 0.0001 0 0.0001 0.0003 5.044e-05 0.0003 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.06 rs62282473 . rs62282473 rs62282473 1 1538 10 1/0 0,247,244 +. 3 195506770 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506770 195506770 Chr3(GRCh37):g.195506770G>A 11681 11681 NM_018406.6:c.11681C>T p.Thr3894Ile p.Thr3894Ile 2 158372 -1110 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506761 3.68278 0.031374 71.6229 4.72129 0.045819 74.3348 0.000022 0.000000 0.000000 0.000000 0.000000 0.000045 0.000039 0.000000 0.000000 0.000045 3 0 0 0 0 1 2 0 0 138024 5940 22736 7810 9934 22106 51268 14614 3616 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 123 Exomes transition C T C>T 0.992 0.932 T Thr ACT 0.243 I Ile ATT 0.356 3894 12 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.09 IV.32 191 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11681T:p.T3894I MUC4:NM_018406:exon2:c.C11681T:p.T3894I . . 0.13636364 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.116 . . 154.0 . . . . . . . . . . -1.0270 -1.223 -1.027 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . . @ . . . 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.198 0.007 . . 37 . 0.146 . . 0.154 . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.352 . . 0 0 0 0 0 0 . 0.475 . . 0.315 . . . . . . 2 0.599 . . . . . 0.178 . 0.019 . LowAF . . . . . . . . . . . . . . 5.844 . . . . . . E7ESK3 . . . . . 0.031 . . . 0 2.174e-05 0 0 0 0 3.901e-05 0 4.524e-05 . . . . . . . . . . 0.059 . 0.064 0.064000 . . . . . 1.0E-191 0.000 0.063 . 0.095 0.040 . 0.024 . 0.196 0.064 0.562 . . . rs199933549 rs199933549 1 1538 10 1/0 0,211,255 +rs79121739 3 195506771 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506771 195506771 Chr3(GRCh37):g.195506771T>G 11680 11680 NM_018406.6:c.11680A>C p.Thr3894Pro p.Thr3894Pro 2 158372 -1111 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506761 3.68278 0.031374 71.6229 5.73459 0.265431 74.1881 rs79121739 yes no Frequency/1000G 2 0.000000 0 0.012580 0.006100 0.045000 0.002000 0.004000 0.007200 0.000065 0.000459 0.000000 0.000000 0.000000 0.000052 0.000067 0.000000 0.000311 0.000459 8 3 0 0 0 1 3 0 1 122778 6536 19016 7016 7020 19396 45080 15494 3220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 3 0 0 0 1 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.992 -0.037 T Thr ACT 0.243 P Pro CCT 0.283 3894 12 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.14 IV.32 133 PASS . . . . . 0.0061 0.013 0.0072 0.002 0.004 0.045 . MUC4:uc021xjp.1:exon2:c.A11680C:p.T3894P MUC4:NM_018406:exon2:c.A11680C:p.T3894P . . 0.125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.039 . . 136.0 . . . . . . . . . . -0.9793 -1.173 -0.979 c . . . . . 1.446e-04 . . . 0.0016 0.0002 0 0 0 0.0002 0 0 0.0026 0.0001 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . . 0.0126 . . . 0.29 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . 52 0.000800296 64976 49 0.000816857 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.136 . . 0.145 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.475 . . 0.315 . . . . . . 2 0.282 . . . . . 0.047 . 0.029 . LowAF . rs79121739 . . . . . . . . . . . . II.94 . . . . . . E7ESK3 . . . . . 0.022 . . . 0 2.606e-05 0 0 0 0 4.745e-05 0 5.156e-05 0.0014 0.0007 0 0 0 0 0.0003 0.0039 . . 0.059 . 0.056 0.056000 . . . . . 1.0E-133 0.000 0.063 . 0.083 0.038 . 0.061 . 0.006 0.056 -0.547 . . . rs79121739 rs79121739 1 1538 10 1/0 0,218,255 +rs75856335 3 195506773 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506773 195506773 Chr3(GRCh37):g.195506773T>C 11678 11678 NM_018406.6:c.11678A>G p.Asp3893Gly p.Asp3893Gly 2 158372 -1113 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs75856335 yes no Frequency/1000G 2 0.000000 0 0.008387 0.003000 0.034800 0.000000 0.003000 0.001400 0.000054 0.000111 0.000000 0.000128 0.000000 0.000047 0.000072 0.000059 0.000000 0.000128 8 1 0 1 0 1 4 1 0 147462 9030 22576 7834 10480 21498 55174 16962 3908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 1 0 1 4 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.984 0.044 D Asp GAC 0.539 G Gly GGC 0.342 3893 12 1 -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.06 IV.32 171 PASS . . . . . 0.003 0.0084 0.0014 . 0.003 0.035 . MUC4:uc021xjp.1:exon2:c.A11678G:p.D3893G MUC4:NM_018406:exon2:c.A11678G:p.D3893G . . 0.12582782 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.196 . @ . . . . . 1 0.163 . . 151.0 . . . . . . . . . . -1.2771 -1.392 -1.277 c . . . . . 3.563e-04 . . . 0.0008 0.0006 0.0026 0 0 0.0008 0 0.0003 0.0012 0.0003 0 0 0 0.0002 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . . 0.0084 . . . 0.28 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.152 . . 0.280 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.151 . . 0.063 . . . . . . 2 0.251 . . . . . 0.035 . 0.043 . LowAF . rs75856335 . . . . . . . . . . . . 2.1364 . . . . . . E7ESK3 . . . . . 0.023 . . . 0 2.936e-05 0 0.0001 0 0 3.941e-05 0 4.652e-05 0.0003 0.0004 0 0 0 0.0005 0.0005 0 . . 0.059 . 0.056 0.056000 . . . . . 1.0E-171 0.000 0.063 . 0.074 0.039 . 0.006 . 0.007 0.056 -0.613 . . . rs75856335 rs75856335 1 1538 10 1/0 0,211,255 +rs76412708 3 195506778 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506778 195506778 Chr3(GRCh37):g.195506778G>A 11673 11673 NM_018406.6:c.11673C>T p.Val3891= p.Val3891Val 2 158372 -1118 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs76412708 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 145228 6210 23286 7990 10188 22518 55220 16026 3790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 132 Exomes transition C T C>T 1.000 2.546 V Val GTC 0.240 V Val GTT 0.178 3891 175 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11673T:p.V3891V MUC4:NM_018406:exon2:c.C11673T:p.V3891V . . 0.10326087 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 184.0 . . . . . . . . . . -0.4004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs76412708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs76412708 rs76412708 1 1538 10 1/0 0,200,255 +rs199983999 3 195506946 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506946 195506946 Chr3(GRCh37):g.195506946T>G 11505 11505 NM_018406.6:c.11505A>C p.Thr3835= p.Thr3835Thr 2 158372 -1286 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs199983999 yes no Frequency/1000G 2 0.000000 0 0.023562 0.088500 0.001000 0.000000 0.000000 0.000000 0.000150 0.001374 0.000000 0.000000 0.000000 0.000000 0.000054 0.000399 0.000000 0.001374 21 12 0 0 0 0 3 6 0 139720 8736 20378 7054 8710 19922 56054 15048 3818 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000133 0.000000 2 0 0 0 0 0 1 1 0 17 12 0 0 0 0 1 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.110 -0.117 T Thr ACA 0.280 T Thr ACC 0.361 3835 193 PASS . . . . . 0.088 0.024 . . . 0.001 . MUC4:uc021xjp.1:exon2:c.A11505C:p.T3835T MUC4:NM_018406:exon2:c.A11505C:p.T3835T . . 0.14084508 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 284.0 . . . . . . . . . . -0.4317 . . . . . . . . 1.274e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0236 . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs199983999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0001 0 0 0 0.0004 6.255e-05 0 0 0.0012 0.0003 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs375329116 rs375329116 1 1538 10 1/0 0,185,255 +rs71187740 3 195506953 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506953 195506953 Chr3(GRCh37):g.195506953G>A 11498 11498 NM_018406.6:c.11498C>T p.Ala3833Val p.Ala3833Val 2 158372 -1293 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506944 2.45628 0.645482 3.62808 0.791765 rs71187740 yes no Frequency/1000G 2 0.000000 0 0.025959 0.063500 0.019400 0.004000 0.013900 0.013000 0.000841 0.001202 0.000980 0.000780 0.001317 0.000221 0.000801 0.000829 0.002449 0.001317 103 8 17 5 10 4 39 12 8 122532 6654 17340 6414 7594 18102 48692 14470 3266 0.000131 0.000301 0.000115 0.000312 0.000000 0.000000 0.000082 0.000138 0.001225 8 1 1 1 0 0 2 1 2 87 6 15 3 10 4 35 10 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.125 A Ala GCA 0.226 V Val GTA 0.114 3833 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Not scored 0.0 0.0 185 PASS . . . . . 0.064 0.026 0.013 0.004 0.014 0.019 . MUC4:uc021xjp.1:exon2:c.C11498T:p.A3833V MUC4:NM_018406:exon2:c.C11498T:p.A3833V . . 0.1237785 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.062 . @ . . . . . 1 0.227 . . 307.0 . . . . . . . . . . -1.8229 -1.926 -1.823 c . . . . . 6.053e-04 . . . 0 0.0006 0 0 0 0.0016 0 0 0 0.0003 0 0 0 0.0013 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . . 0.0260 . . . 0.22 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.231 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.236 . . 0 0 0 0 0 0 . 0.151 . . 0.093 . . . . . . 2 0.061 . . . . . 0.117 . 0.049 . LowAF . rs200568365 . . . . . . . . . . . . IV.62 0.094595 . . . . . E7ESK3 . . . . . 0.010 . . . 0.0019 0.0008 0.0009 0.0008 0.0012 0.0007 0.0008 0.0025 0.0002 0.0003 0.0008 0.0022 0 0.0020 0.0014 0.0006 0.0020 . . 0.283 . -2.068 -2.068000 . . . . . 1.0E-185 0.000 0.063 . 0.074 0.062 . 0.065 . 0.008 -2.068 -2.423 . . . rs200568365 rs200568365 1 1538 10 1/0 0,180,255 +rs201420433 3 195506955 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506955 195506955 Chr3(GRCh37):g.195506955T>C 11496 11496 NM_018406.6:c.11496A>G p.Ser3832= p.Ser3832Ser 2 158372 -1295 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506944 2.45628 0.645482 8.05864 0.725829 78.234 rs201420433 yes no Frequency 1 0.000000 0 0.000117 0.000337 0.000101 0.000000 0.000000 0.000051 0.000128 0.000203 0.000000 0.000337 16 3 2 0 0 1 7 3 0 136884 8908 19798 6996 8354 19548 54782 14792 3706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 2 0 0 1 7 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.016 -0.360 S Ser TCA 0.148 S Ser TCG 0.056 3832 195 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11496G:p.S3832S MUC4:NM_018406:exon2:c.A11496G:p.S3832S . . 0.14569536 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 302.0 . . . . . . . . . . -0.3469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.21 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs201420433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 7.449e-05 0.0001 0 0 0.0002 6.388e-05 0 5.116e-05 0.0006 0.0004 0 0 0 0.0004 0.0005 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs201420433 rs201420433 1 1538 10 1/0 0,183,255 +rs76834296 3 195507049 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507049 195507049 Chr3(GRCh37):g.195507049G>A 11402 11402 NM_018406.6:c.11402C>T p.Ala3801Val p.Ala3801Val 2 158372 -1389 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507040 I.58 0.662352 3.03759 0.814042 rs76834296 yes no Frequency 1 0.000000 0 0.000339 0.001367 0.000211 0.000149 0.000541 0.000114 0.000330 0.000225 0.000000 0.001367 44 13 4 1 4 2 16 4 0 129678 9508 18988 6704 7398 17538 48438 17762 3342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 13 4 1 4 2 16 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.286 A Ala GCA 0.226 V Val GTA 0.114 3801 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Not scored 0.0 0.0 199 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11402T:p.A3801V MUC4:NM_018406:exon2:c.C11402T:p.A3801V . . 0.15681234 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.193 . @ . . . . . 1 0.232 . . 389.0 . . . . . . . . . . -1.9112 -2.020 -1.911 c . . . . . 1.770e-04 . . . 0.0008 0.0004 0 0.0020 0 0.0006 0 0.0001 0 0.0002 0 0.0030 0 0.0003 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . . @ . . . 0.24 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.247 . . . . T 0.079 0.003 . . 37 . 0.130 . . 0.145 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.232 . . 0 0 0 0 0 0 . 0.151 . . 0.093 . . . . . . 2 0.010 . . . . . 0.117 . 0.041 . HET . rs76834296 . . . . . . . . . . . . IV.62 0.04902 . . . . . E7ESK3 . . . . . 0.003 . . . 0.0007 0.0002 0.0002 0.0002 0.0002 0 0.0001 0 0.0001 0.0020 0.0014 0 0 0.0023 0.0014 0.0012 0 . . 0.283 . -2.068 -2.068000 . . . . . 1.0E-199 0.000 0.063 . 0.108 0.219 . 0.006 . 0.008 -2.068 -2.423 . . . rs76834296 rs76834296 1 1538 10 1/0 0,173,255 +rs76367261 3 195507059 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507059 195507059 Chr3(GRCh37):g.195507059T>C 11392 11392 NM_018406.6:c.11392A>G p.Thr3798Ala p.Thr3798Ala 2 158372 -1399 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507049 3.68278 0.040806 71.6229 4.47168 0.083347 71.6229 rs76367261 yes no Frequency 1 0.000000 0 0.000069 0.000274 0.000050 0.000000 0.000102 0.000000 0.000091 0.000000 0.000000 0.000274 10 3 1 0 1 0 5 0 0 144510 10932 19886 7742 9762 19828 54790 17684 3886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 1 0 1 0 5 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.850 -0.117 T Thr ACT 0.243 A Ala GCT 0.263 3798 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11392G:p.T3798A MUC4:NM_018406:exon2:c.A11392G:p.T3798A . . 0.15424165 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.076 . . 389.0 . . . . . . . . . . -1.8607 -1.942 -1.861 c . . . . . . . . . 0 5.541e-05 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . . @ . . . 0.29 0.24 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.039 . . . . T 0.311 0.012 . . 37 . 0.159 . . 0.147 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.178 . . 0 0 0 0 0 0 . 0.135 . . 0.080 . . . . . . 2 0.145 . . . . . 0.117 . 0.031 . HET . rs76367261 . . . . . . . . . . . . IV.71 0.00165 . . . . . E7ESK3 . . . . . 0.044 . . . 0.0006 7.895e-05 5.187e-05 0 0.0001 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . 0.283 . -2.094 -2.094000 . . . . . 1.0E-177 0.032 0.204 . 0.143 0.460 . 0.023 . 0.007 -2.094 0.615 . . . rs76367261 rs76367261 1 1538 10 1/0 0,173,255 +rs774134232 3 195507064 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507064 195507064 Chr3(GRCh37):g.195507064G>C 11387 11387 NM_018406.6:c.11387C>G p.Thr3796Ser p.Thr3796Ser 2 158372 -1404 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 New Acceptor Site 195507063 7.29327 0.357979 82.3367 0.000611 0.000936 0.000532 0.000120 0.000703 0.000000 0.000477 0.001858 0.000212 0.001858 106 14 13 1 8 0 32 37 1 173548 14954 24436 8314 11382 22738 67090 19912 4722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 14 13 1 8 0 32 37 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.945 0.609 T Thr ACC 0.361 S Ser AGC 0.243 3796 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Not scored 0.0 0.0 181 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11387G:p.T3796S MUC4:NM_018406:exon2:c.C11387G:p.T3796S . . 0.114754096 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.032 . . 427.0 . . . . . . . . . . -0.9440 -1.148 -0.944 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.377 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.059 . . . . T 0.268 0.010 . . 37 . 0.229 . . 0.203 . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.061 . . 0 0 0 0 0 0 . 0.424 . . 0.395 . . . . . . 2 0.285 . . . . . 0.178 . 0.026 . LowAF . . . . . . . . . . . . . . 5.844 . . . . . . E7ESK3 . . . . . 0.043 . . . 0.0001 0.0001 0.0001 0.0001 0.0003 0.0001 0.0001 0 0 0.0016 0.0036 0.0137 0 0.0033 0.0112 0.0024 0.0012 . . 0.283 . 0.064 0.064000 . . . . . 1.0E-181 0.001 0.137 . 0.166 0.414 . 0.233 . 0.196 0.064 0.562 . . . . . 1 1538 10 1/0 0,165,255 +rs78552467 3 195507083 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507083 195507083 Chr3(GRCh37):g.195507083T>C 11368 11368 NM_018406.6:c.11368A>G p.Thr3790Ala p.Thr3790Ala 2 158372 -1423 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs78552467 yes no Frequency/1000G 2 0.000000 0 0.157947 0.180000 0.168700 0.069400 0.229600 0.125400 0.001232 0.004843 0.000531 0.001396 0.000479 0.000791 0.001203 0.000690 0.001743 0.004843 159 49 11 9 5 14 55 10 6 129064 10118 20704 6446 10436 17696 45736 14486 3442 0.000015 0.000198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 157 47 11 9 5 14 55 10 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.795 -0.117 T Thr ACC 0.361 A Ala GCC 0.403 3790 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 211 PASS . . . . . 0.18 0.16 0.13 0.069 0.23 0.17 . MUC4:uc021xjp.1:exon2:c.A11368G:p.T3790A MUC4:NM_018406:exon2:c.A11368G:p.T3790A . . 0.25846153 . . @ 84 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.071 . . 325.0 . . . . . . . . . . -1.0393 -1.201 -1.039 c . . . . . 1.554e-03 . . . 0.0075 0.0021 0.0026 0 0 0.0022 0 0.0013 0.0083 0.0018 0 0 0.0019 0.0018 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . . 0.1579 . . . 0.29 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . 0.112 . . . . . . . . . 37 . 0.128 . . 0.165 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.221 . . 0 0 0 0 0 0 . 0.378 . . 0.250 . . . . . . 2 0.136 . . . . . 0.051 . 0.019 . HET . rs78552467 . . . . . . . . . . . . II.04 0.001684 . . . . . E7ESK3 . . . . . 0.034 . . . 0.0052 0.0010 0.0004 0.0014 0.0004 0.0005 0.0011 0.0010 0.0008 0.0045 0.0027 0.0035 0 0.0007 0.0017 0.0018 0.0054 . . 0.372 . 0.056 0.056000 . . . . . 1.0E-211 0.737 0.288 . 0.161 0.252 . 0.524 . 0.196 0.056 -0.547 . . . rs78552467 rs78552467 1 1538 15 1/0 0,191,254 +rs769637445 3 195507092 T A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507092 195507092 Chr3(GRCh37):g.195507092T>A 11359 11359 NM_018406.6:c.11359A>T p.Thr3787Ser p.Thr3787Ser 2 158372 -1432 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs769637445 yes no Frequency 1 0.000000 0 0.000965 0.002459 0.000829 0.000000 0.000735 0.000000 0.000810 0.002181 0.001316 0.002459 163 34 20 0 8 0 53 42 6 168904 13828 24136 8262 10880 22570 65416 19254 4558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 163 34 20 0 8 0 53 42 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.150 0.528 T Thr ACA 0.280 S Ser TCA 0.148 3787 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Not scored 0.0 0.0 214 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11359T:p.T3787S MUC4:NM_018406:exon2:c.A11359T:p.T3787S . . 0.19512194 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.039 . . 369.0 . . . . . . . . . . -1.2329 -1.338 -1.233 c . . . . . 1.415e-05 . . . 0 5.354e-05 0 0 0 0.0001 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.093 . . . . T 0.095 0.004 . . 37 . 0.157 . . 0.305 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 2 0.082 . . . . . 0.035 . 0.039 . HET . rs769637445 . . . . . . . . . . . . 2.1364 . . . . . . E7ESK3 . . . . . 0.018 . . . 0.0003 0.0001 0.0003 0 0.0001 5.95e-05 0.0002 0 0 0.0047 0.0069 0.0237 0 0.0058 0.0167 0.0047 0.0088 . . 0.283 . 0.056 0.056000 . . . . . 1.0E-214 0.000 0.063 . 0.143 0.053 . 0.077 . 0.247 0.056 0.615 . . . . . 1 1538 10 1/0 0,179,255 +rs760461796 3 195507109 T A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507109 195507109 Chr3(GRCh37):g.195507109T>A 11342 11342 NM_018406.6:c.11342A>T p.Asp3781Val p.Asp3781Val 2 158372 -1449 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507097 4.47168 0.060517 71.6229 6.83101 0.238538 77.4751 0.000465 0.001499 0.000364 0.000000 0.000219 0.000048 0.000399 0.000861 0.000724 0.001499 72 18 8 0 2 1 24 16 3 154940 12010 21996 7980 9150 20900 60186 18576 4142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 18 8 0 2 1 24 16 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.622 -0.682 D Asp GAC 0.539 V Val GTC 0.240 3781 12 1 -3 -3 -6 I.38 0 13 5.IX 54 84 152 C0 353.86 0.00 Not scored 0.0 0.0 185 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11342T:p.D3781V MUC4:NM_018406:exon2:c.A11342T:p.D3781V . . 0.122857146 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.236 . @ . . . . . 1 0.075 . . 350.0 . . . . . . . . . . -1.2783 -1.379 -1.278 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.342 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.134 . . . . T 0.216 0.008 . . 37 . 0.162 . . 0.209 . . . . 0.401 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.112 . . 0.013 . . . . . . 2 0.357 . . . . . 0.035 . 0.146 . LowAF . . . . . . . . . . . . . . 2.1364 . . . . . . E7ESK3 . . . . . 0.042 . . . 0.0005 0.0001 9.285e-05 0 0 6.014e-05 0.0002 0 4.785e-05 0.0027 0.0033 0.0132 0 0.0019 0.0077 0.0020 0.0051 . . 0.283 . 0.056 0.056000 . . . . . 1.0E-185 0.000 0.063 . 0.016 0.006 . 0.000 . 0.012 0.056 -0.613 . . . . . 1 1538 10 1/0 0,174,255 +rs403778 3 195507110 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507110 195507110 Chr3(GRCh37):g.195507110C>T 11341 11341 NM_018406.6:c.11341G>A p.Asp3781Asn p.Asp3781Asn 2 158372 -1450 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs403778 yes no Frequency 1 0.000000 0 0.000660 0.001627 0.000267 0.000493 0.000290 0.000234 0.000786 0.000739 0.000936 0.001627 106 21 6 4 3 5 49 14 4 160718 12908 22482 8116 10330 21336 62336 18936 4274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 21 6 4 3 5 49 14 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.614 -0.117 D Asp GAC 0.539 N Asn AAC 0.536 3781 12 1 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Not scored 0.0 0.0 163 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G11341A:p.D3781N MUC4:NM_018406:exon2:c.G11341A:p.D3781N . . 0.10674157 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.321 . @ . . . . . 1 0.200 . . 356.0 . . . . . . . . . . -1.2241 -1.338 -1.224 c . . . . . 3.241e-04 . . . 0 0.0009 0 0 0 0.0015 0 0.0007 0 0.0007 0 0 0 0.0012 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.334 . . exonic exonic exonic . . . @ . . . 0.25 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.134 . . . . T 0.106 0.004 . . 37 . 0.130 . . 0.227 . . . . 0.295 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.050 . . 0 0 0 0 0 0 . 0.269 . . 0.063 . . . . . . 2 0.214 . . . . . 0.075 . 0.006 . LowAF . rs403778 . . . . . . . . . . . . III.85 . . . . . . E7ESK3 . . . . . 0.035 . . . 0.0008 0.0004 0.0001 0.0005 0.0001 5.998e-05 0.0006 0.0003 0.0002 0.0025 0.0028 0.0059 0 0.0016 0.0057 0.0021 0.0047 . . 0.283 . 0.064 0.064000 . . . . . 1.0E-163 0.000 0.063 . 0.016 0.008 . 0.001 . 0.001 0.064 -0.609 . . . rs403778 rs403778 1 1538 10 1/0 0,173,255 +rs446557 3 195507126 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195507126 195507126 Chr3(GRCh37):g.195507126C>G 11325 11325 NM_018406.6:c.11325G>C p.Thr3775= p.Thr3775Thr 2 158372 -1466 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs446557 yes no Frequency 1 0.000000 0 0.007109 0.022867 0.008734 0.003339 0.012023 0.005778 0.006985 0.002665 0.009136 0.022867 776 104 129 23 51 98 304 41 26 109162 4548 14770 6888 4242 16960 43522 15386 2846 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 776 104 129 23 51 98 304 41 26 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.339 -2.135 T Thr ACG 0.116 T Thr ACC 0.361 3775 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G11325C:p.T3775T MUC4:NM_018406:exon2:c.G11325C:p.T3775T . . 0.1373802 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 313.0 . . . . . . . . . . -0.9970 . . . . . . . . . . . . 0.0153 0.0190 0.0155 0.0035 0 0.0186 0.0103 0.0225 0.0107 0.0139 0.0143 0.0025 0 0.0083 0.0112 0.0225 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.2 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs446557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0252 0.0072 0.0088 0.0034 0.0140 0.0027 0.0072 0.0098 0.0058 0.0173 0.0058 0.0033 0 0.0015 0.0017 0.0040 0.0035 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs446557 rs446557 1 1538 10 1/0 0,181,255 +rs138135578 3 195507228 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507228 195507228 Chr3(GRCh37):g.195507228G>C 11223 11223 NM_018406.6:c.11223C>G p.His3741Gln p.His3741Gln 2 158372 -1568 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195507233 3.34011 0.120221 72.4027 7.19963 0.85076 85.0987 rs138135578 yes no Frequency 1 0.000000 0 0.002594 0.003839 0.001277 0.000815 0.001524 0.001139 0.002591 0.008781 0.005133 0.008781 230 35 20 3 8 17 82 53 12 88668 9116 15666 3680 5248 14930 31654 6036 2338 0.000045 0.000439 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 226 31 20 3 8 17 82 53 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.008 0.367 H His CAC 0.587 Q Gln CAG 0.744 3741 12 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Not scored 0.0 0.0 189 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11223G:p.H3741Q MUC4:NM_018406:exon2:c.C11223G:p.H3741Q . . 0.13272311 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.111 . . 437.0 . . . . . . . . . . -0.8839 -1.121 -0.884 c . . . . . 7.232e-04 . . . 0.0048 0.0026 0 0 0.0278 0.0034 0.0143 0.0014 0.0041 0.0022 0 0 0.0043 0.0025 0.0125 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.080 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . 0.251 . . . . . . . . . 37 . 0.171 . . 0.258 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.528 . . 0.449 . . . . . . 2 0.306 . . . . . 0.151 . 0.025 . LowAF . rs138135578 . . . . . . . . . . . . 5.328 0.028701 . 0.885 -1.56 . . E7ESK3 . . . . . 0.083 . . . 0.0025 0.0019 0.0012 0.0008 0.0015 0.0046 0.0022 0.0045 0.0011 0.0055 0.0072 0.0063 0 0.0017 0.0291 0.0048 0.0091 . . 0.283 . -0.535 -0.535000 . . . . . 1.0E-189 0.001 0.137 . 0.016 0.099 . 0.114 . 0.027 -0.535 0.562 . . . rs375915811 rs375915811 1 1538 10 1/0 0,165,255 +rs112808291 3 195507242 C A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507242 195507242 Chr3(GRCh37):g.195507242C>A 11209 11209 NM_018406.6:c.11209G>T p.Ala3737Ser p.Ala3737Ser 2 158372 -1582 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507232 3.47098 0.744538 X.93 0.940884 84.1676 rs112808291 yes no Frequency/1000G 2 0.000000 0 0.010583 0.013600 0.008200 0.006900 0.013900 0.008600 transversion G T G>T 0.016 -1.409 A Ala GCA 0.226 S Ser TCA 0.148 3737 12 1 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Not scored 0.0 0.0 203 PASS . . . . . 0.014 0.011 0.0086 0.0069 0.014 0.0082 . MUC4:uc021xjp.1:exon2:c.G11209T:p.A3737S MUC4:NM_018406:exon2:c.G11209T:p.A3737S . . 0.16507177 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.109 . . 418.0 . . . . . . . . . . -1.3730 -1.489 -1.373 c . . . . . 9.793e-04 . . . 0.0115 0.0044 0 0 0.0333 0.0039 0.0147 0.0028 0.0092 0.0041 0 0 0.0064 0.0045 0.0227 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . . 0.0106 . . . 0.2 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . 0.111 . . . . . . . . . 37 . 0.131 . . 0.266 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.112 . . 0.040 . . . . . . 2 0.381 . . . . . 0.035 . 0.132 . HET . rs112808291 . . . . . . . . . . . . 2.155 0.257329 . . . . . E7ESK3 . . . . . 0.030 . . . . . . . . . . . . . . . . . . . . . . 0.372 . -0.927 -0.927000 . . . . . 1.0E-203 0.000 0.063 . 0.062 0.275 . 0.065 . 0.244 -0.927 0.057 . . . rs112808291 rs112808291 1 1538 10 1/0 0,170,253 +rs71187741 3 195507564 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507564 195507564 Chr3(GRCh37):g.195507564C>G 10887 10887 NM_018406.6:c.10887G>C p.Gln3629His p.Gln3629His 2 158372 -1904 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs71187741 yes no Frequency 1 0.000000 0 0.001582 0.004939 0.002802 0.000481 0.003136 0.000880 0.001680 0.000246 0.001880 0.004939 162 22 32 3 12 14 70 4 5 102432 4454 11420 6232 3826 15904 41666 16270 2660 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 162 22 32 3 12 14 70 4 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.394 1.013 Q Gln CAG 0.744 H His CAC 0.587 3629 12 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Not scored 0.0 0.0 192 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G10887C:p.Q3629H MUC4:NM_018406:exon2:c.G10887C:p.Q3629H . . 0.13919415 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.018 . . 546.0 . . . . . . . . . . -1.8123 -1.898 -1.812 c . . . . . 5.697e-04 . . . 0.0035 0.0011 0 0 0 0.0016 0 0.0004 0.0049 0.0004 0 0 0 0 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.352 . . exonic exonic exonic . . 0.174 @ . . . 0.14 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.204 . . 0.300 . . . . 0.235 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.167 . . . . . 0.192 . 0.037 . LowAF . rs71187741 . . . . . . . . . . . . 6.114 0.012456 . 0.743 0.743 . . E7ESK3 . . . . . 0.001 . . . 0.0130 0.0018 0.0029 0.0005 0.0044 0.0003 0.0019 0.0023 0.0009 0 0.0002 0 0 0 0 0.0004 0 . . 0.283 . -1.916 -1.916000 . . . . . 9.999999999999999E-193 0.000 0.063 . 0.062 0.019 . 0.007 . 0.005 -1.916 -2.298 . . . rs71187741 rs71187741 1 1538 10 1/0 0,156,251 +rs199957573 3 195507666 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195507666 195507666 Chr3(GRCh37):g.195507666T>G 10785 10785 NM_018406.6:c.10785A>C p.Thr3595= p.Thr3595Thr 2 158372 -2006 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs199957573 yes no Frequency 1 0.000000 0 0.000456 0.000651 0.000401 0.000414 0.000688 0.000368 0.000260 0.001378 0.000507 0.001378 32 3 5 1 4 4 7 7 1 70178 4608 12474 2418 5814 10878 26934 5078 1974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 3 5 1 4 4 7 7 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.521 T Thr ACA 0.280 T Thr ACC 0.361 3595 176 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A10785C:p.T3595T MUC4:NM_018406:exon2:c.A10785C:p.T3595T . . 0.11633109 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 447.0 . . . . . . . . . . -0.2756 . . . . . . . . . . . . 0.0126 0.0286 0.0114 0.0427 0 0.0325 0.0517 0.0278 0.0132 0.0359 0.0079 0.0484 0.0794 0.0378 0.0735 0.0278 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs199957573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0.0003 0.0004 0.0007 0.0002 0.0003 0.0005 0.0004 0.0042 0.0051 0.0071 0 0 0.0110 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +rs200882406 3 195507675 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195507675 195507675 Chr3(GRCh37):g.195507675T>C 10776 10776 NM_018406.6:c.10776A>G p.Ser3592= p.Ser3592Ser 2 158372 -2015 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507664 3.62808 0.791765 9.01784 0.838215 80.9459 rs200882406 yes no Frequency 1 0.000000 0 0.000347 0.001308 0.000195 0.000287 0.000471 0.000502 0.000181 0.000139 0.001266 0.001308 30 6 3 1 3 7 6 1 3 86544 4586 15402 3480 6366 13942 33210 7188 2370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 6 3 1 3 7 6 1 3 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 0.125 S Ser TCA 0.148 S Ser TCG 0.056 3592 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A10776G:p.S3592S MUC4:NM_018406:exon2:c.A10776G:p.S3592S . . 0.13131313 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 396.0 . . . . . . . . . . -0.2524 . . . . . . . . 8.660e-03 . . . 0.0089 0.0175 0.0105 0.0316 0 0.0202 0 0.0169 0.0124 0.0231 0.0072 0.0392 0.0585 0.0234 0.0349 0.0169 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs200882406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0004 0.0002 0.0003 0.0005 0.0002 0.0002 0.0013 0.0005 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +rs370221916 3 195507731 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507731 195507731 Chr3(GRCh37):g.195507731G>A 10720 10720 NM_018406.6:c.10720C>T p.Leu3574Phe p.Leu3574Phe 2 158372 -2071 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Weakly Activated 195507732 7.63351 0.325243 80.5719 8.15499 0.622424 80.5719 rs370221916 yes no Frequency/1000G 2 0.000000 0 0.360024 0.385800 0.258700 0.505000 0.328000 0.289600 0.000102 0.000000 0.000000 0.000000 0.000284 0.000000 0.000222 0.000000 0.000000 0.000284 8 0 0 0 1 0 7 0 0 78772 4982 12096 2888 3516 12172 31542 9536 2040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 1 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 L Leu CTT 0.129 F Phe TTT 0.454 3574 12 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Not scored 0.0 0.0 146 PASS . . . . . 0.39 0.36 0.29 0.51 0.33 0.26 . MUC4:uc021xjp.1:exon2:c.C10720T:p.L3574F MUC4:NM_018406:exon2:c.C10720T:p.L3574F . . 0.1212938 . . @ 45 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.049 . @ . . . . . 1 0.159 . . 371.0 . . . . . . . . . . -1.2352 -1.355 -1.235 c . . . . . 3.692e-05 . . . 0 0.0001 0 0 0 0 0 0.0002 0 0.0003 0 0 0.0014 0 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.336 . . exonic exonic exonic . . 0.085 0.3600 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.181 . . 0.229 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.268 . . 0.133 . . . . . . 2 0.450 . . . . . 0.161 . 0.036 . LowAF . rs370221916 . . . . . . . . . . . . 5.527 0.117834 . 1.II -1.38 . . E7ESK3 . . . . . 0.006 . . . 0 1.464e-05 0 0 0 0 3.809e-05 0 0 0 0.0007 0 0 0.0016 0 0.0011 0 . . 0.372 . 0.488 0.488000 . . . . . 1.0E-146 0.000 0.063 . 0.043 0.000 . 0.006 . 0.000 0.488 -2.237 . rs379344 . rs370221916 rs370221916 1 1538 14 1/0 0,174,255 +rs200231058 3 195507756 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507756 195507756 Chr3(GRCh37):g.195507756C>G 10695 10695 NM_018406.6:c.10695G>C p.Gln3565His p.Gln3565His 2 158372 -2096 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200231058 yes no Frequency/1000G 2 0.000000 0 0.359625 0.400900 0.242300 0.503000 0.333000 0.276700 0.006329 0.003563 0.005495 0.000000 0.007042 0.000000 0.008085 0.004491 0.005556 0.008085 28 3 1 0 1 0 19 3 1 4424 842 182 60 142 0 2350 668 180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 3 1 0 1 0 19 3 1 0 0 0 0 0 0 0 0 0 RF 196 Genomes transversion G C G>C 0.000 -2.297 Q Gln CAG 0.744 H His CAC 0.587 3565 12 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Not scored 0.0 0.0 230 PASS . . . . . 0.4 0.36 0.28 0.5 0.33 0.24 . MUC4:uc021xjp.1:exon2:c.G10695C:p.Q3565H MUC4:NM_018406:exon2:c.G10695C:p.Q3565H . . 0.2428884 . . @ 111 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.012 . . 457.0 . . . . . . . . . . -1.9912 -2.115 -1.991 c . . . . . 3.695e-04 . . . 0.0031 0.0005 0 0 0 0.0008 0 0 0.0024 0.0001 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.352 . . exonic exonic exonic . . . @ . . . 0.12 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.074 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.159 . . 0.124 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.214 . . 0 0 0 0 0 0 . 0.268 . . 0.112 . . . . . . 2 0.207 . . . . . 0.075 . 0.058 . HET . rs200231058 . . . . . . . . . . . . III.25 0.161994 . . . . . E7ESK3 . . . . . 0.018 . . . . . . . . . . . . 0.0036 0.0063 0.0055 0 0.0070 0.0045 0.0081 0.0056 . . 0.372 . -2.387 -2.387000 . . . . . 1.0E-230 0.000 0.063 . 0.095 0.001 . 0.005 . 0.005 -2.387 -2.598 . . . rs140571210 rs140571210 1 1538 10 1/0 0,174,245 +rs879381207 3 195507762 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195507762 195507762 Chr3(GRCh37):g.195507762T>G 10689 10689 NM_018406.6:c.10689A>C p.Thr3563= p.Thr3563Thr 2 158372 -2102 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507755 0.000408 3.17053 0.002631 72.9875 rs879381207 no no 0 0.000000 0 transversion A C A>C 0.000 0.044 T Thr ACA 0.280 T Thr ACC 0.361 3563 205 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A10689C:p.T3563T MUC4:NM_018406:exon2:c.A10689C:p.T3563T . . 0.17225951 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 447.0 . . . . . . . . . . -0.4829 . . . . . . . . 5.247e-05 . . . 0.0013 0.0001 0 0 0 0 0 0 0.0023 0.0001 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs2432534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs369666687 rs369666687 1 1538 10 1/0 0,168,255 +rs879439776 3 195508069 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508069 195508069 Chr3(GRCh37):g.195508069T>C 10382 10382 NM_018406.6:c.10382A>G p.Asp3461Gly p.Asp3461Gly 2 158372 -2409 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs879439776 yes no Frequency 1 0.000000 0 0.004171 0.055067 0.002881 0.000247 0.000229 0.000545 0.000257 0.000421 0.001995 0.055067 382 313 41 1 1 8 10 3 5 91592 5684 14230 4052 4358 14684 38952 7126 2506 0.000524 0.007741 0.000281 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 24 22 2 0 0 0 0 0 0 334 269 37 1 1 8 10 3 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.008 -1.812 D Asp GAC 0.539 G Gly GGC 0.342 3461 12 1 -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.15 III.91 154 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A10382G:p.D3461G MUC4:NM_018406:exon2:c.A10382G:p.D3461G . . 0.10653753 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.050 . . 413.0 . . . . . . . . . . -1.4556 -1.696 -1.456 c . . . . . 3.698e-03 . . . 0.1168 0.0120 0.0214 0.0054 0.0068 0.0030 0.0156 0.0012 0.0857 0.0077 0.0229 0.0054 0.0015 0.0036 0.0147 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.082 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.056 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.217 . . 0.139 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.520 . . 0.518 . . . . . . 2 0.318 . . . . . 0.086 . 0.043 . LowAF . rs200683272 . . . . . . . . . . . . 3.IX . . 0.743 -1.49 . . E7ESK3 . . . . . 0.033 . . . 0.0705 0.0036 0.0029 0.0003 0.0003 0.0003 0.0002 0.0024 0.0005 0.0353 0.0076 0.0031 0 0 0.0010 0.0005 0 . . 0.283 . -2.081 -2.081000 . . . . . 1.0E-154 0.001 0.137 . 0.142 0.034 . 0.018 . 0.196 -2.081 0.615 . . . rs370596732 rs370596732 1 1538 10 1/0 0,166,255 +rs201319965 3 195508070 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508070 195508070 Chr3(GRCh37):g.195508070C>T 10381 10381 NM_018406.6:c.10381G>A p.Asp3461Asn p.Asp3461Asn 2 158372 -2410 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201319965 yes no Frequency/1000G 2 0.000000 0 0.004393 0.012100 0.005100 0.000000 0.000000 0.001400 transition G A G>A 0.008 -1.489 D Asp GAC 0.539 N Asn AAC 0.536 3461 12 1 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.23 III.91 156 PASS . . . . . 0.012 0.0044 0.0014 . . 0.0051 . MUC4:uc021xjp.1:exon2:c.G10381A:p.D3461N MUC4:NM_018406:exon2:c.G10381A:p.D3461N . . 0.10144927 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.049 . @ . . . . . 1 0.061 . . 414.0 . . . . . . . . . . -1.4976 -1.713 -1.498 c . . . . . . . . . 0.1243 0.0136 0.0227 0.0061 0.0070 0.0035 0.0161 0.0016 0.0933 0.0090 0.0243 0.0061 0.0015 0.0043 0.0147 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.336 . . exonic exonic exonic . . 0.082 0.0044 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.044 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.172 . . 0.110 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.524 . . 0.414 . . . . . . 2 0.324 . . . . . 0.045 . 0.002 . LowAF . rs201319965 . . . . . . . . . . . . II.16 . . 0.743 -1.49 . . E7ESK3 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -1.862 -1.862000 . . . . . 1.0E-156 0.001 0.137 . 0.146 0.036 . 0.074 . 0.192 -1.862 0.542 . . . rs374027103 rs374027103 1 1538 10 1/0 0,166,255 +rs148923966 3 195508108 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508108 195508108 Chr3(GRCh37):g.195508108G>A 10343 10343 NM_018406.6:c.10343C>T p.Ser3448Leu p.Ser3448Leu 2 158372 -2448 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Weakly Activated 195508096 1.52515 0.674316 1.94543 0.740302 rs1011519559 no no 0 0.000000 0 0.000528 0.000611 0.000000 0.000000 0.001174 0.000000 0.000496 0.000000 0.001582 0.001174 11 4 0 0 1 0 5 0 1 20838 6552 524 216 852 0 10082 1980 632 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 4 0 0 1 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 64 Genomes transition C T C>T 0.000 -0.440 S Ser TCA 0.148 L Leu TTA 0.073 3448 12 1 -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Deleterious 0.01 III.91 193 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C10343T:p.S3448L MUC4:NM_018406:exon2:c.C10343T:p.S3448L . . 0.14166667 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.116 . . 480.0 . . . . . . . . . . -0.6791 -0.954 -0.679 c . . . . . 5.905e-03 . . . 0.0006 0.0011 0 0.0057 0 0.0016 0 0.0006 0.0009 0.0013 0 0.0096 0 0.0025 0 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.354 . . exonic exonic exonic . . 0.082 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.332 . . 0.211 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.289 . . 0 0 0 0 0 0 . 0.520 . . 0.653 . . . . . . 2 0.386 . . . . . 0.035 . 0.051 . LowAF . rs148923966 . 0.007 . . . . . . . . . . 2.1531 0.077941 . 0.743 -1.49 . . E7ESK3 . . . . . 0.072 . . . . . . . . . . . . 0.0006 0.0005 0 0 0.0012 0 0.0005 0.0016 . . 0.283 . 0.088 0.088000 . . . . . 1.0E-193 0.005 0.169 . 0.111 0.008 . 0.296 . 0.196 0.088 -0.628 . . . rs374140595 rs374140595 1 1538 10 1/0 0,162,253 +rs201933946 3 195508451 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508451 195508451 Chr3(GRCh37):g.195508451G>T 10000 10000 NM_018406.6:c.10000C>A p.Pro3334Thr p.Pro3334Thr 2 158372 -2791 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201933946 yes no Frequency 1 0.000000 0 0.000515 0.001572 0.000055 0.000000 0.000280 0.001827 0.000222 0.000136 0.000625 0.001827 63 14 1 0 1 32 11 2 2 122252 8906 18300 6438 3576 17514 49626 14692 3200 0.000065 0.000225 0.000000 0.000000 0.000000 0.000228 0.000040 0.000000 0.000000 4 1 0 0 0 2 1 0 0 55 12 1 0 1 28 9 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.079 -2.458 P Pro CCT 0.283 T Thr ACT 0.243 3334 12 2 Mouse -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Deleterious 0 IV.32 176 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C10000A:p.P3334T MUC4:NM_018406:exon2:c.C10000A:p.P3334T . . 0.10541311 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.064 . . 351.0 . . . . . . . . . . -2.0079 -2.087 -2.008 c . . . . . 7.201e-04 . . . 0.0007 0.0015 0.0027 0.0031 0 0.0011 0 0.0020 0.0011 0.0014 0.0036 0 0.0029 0.0002 0 0.0020 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.101 @ . . . 0.22 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.081 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.044 0.002 . . 37 . 0.101 . . 0.236 . . . . 0.207 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.131 . . 0.104 . . . . . . 2 0.052 . . . . . . . 0.021 . LowAF . rs201933946 . . . . . . . . . . . . . 0.064841 . 0.423 -0.846 . . E7ESK3 . . . . . 0.002 . . . 0.0022 0.0005 5.597e-05 0 0 7.683e-05 0.0001 0.0007 0.0018 0.0009 0.0009 0 0 0.0016 0.0006 0.0010 0 . . 0.283 . -1.978 -1.978000 . . . . . 1.0E-176 0.001 0.137 . 0.016 0.003 . 0.059 . 0.002 -1.978 -2.237 . . . rs201933946 rs201933946 1 1538 10 1/0 0,173,255 +rs148870692 3 195508500 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508500 195508500 Chr3(GRCh37):g.195508500G>C 9951 9951 NM_018406.6:c.9951C>G p.Asp3317Glu p.Asp3317Glu 2 158372 -2840 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs148870692 yes no Frequency 1 0.000000 0 0.001883 0.003608 0.000894 0.002592 0.000854 0.001802 0.002043 0.001885 0.002069 0.003608 241 33 17 16 7 32 100 29 7 128016 9146 19022 6172 8198 17756 48956 15382 3384 0.000687 0.000875 0.000105 0.001620 0.000000 0.001464 0.000531 0.000910 0.000591 44 4 1 5 0 13 13 7 1 151 25 15 6 7 6 72 15 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.448 D Asp GAC 0.539 E Glu GAG 0.583 3317 12 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 0.16 IV.32 213 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C9951G:p.D3317E MUC4:NM_018406:exon2:c.C9951G:p.D3317E . . 0.19344263 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.090 . @ . . . . . 1 0.096 . . 305.0 . . . . . . . . . . -0.9041 -1.087 -0.904 c . . . . . . . . . 0.0043 0.0193 0.0214 0 0.0435 0.0193 0.1304 0.0211 0.0067 0.0217 0.0283 0 0.0074 0.0275 0.1304 0.0212 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.156 @ . . . 0.2 0.26 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.147 . . 0.149 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.432 . . 0.330 . . . . . . 2 0.496 . . . . . . . 0.009 . HET . rs148870692 . . . . . . . . . . . . . . . 0.423 0.423 . . E7ESK3 . . . . . 0.033 . . . 0.0044 0.0015 0.0009 0.0025 0.0004 0.0012 0.0015 0.0014 0.0018 0.0026 0.0041 0.0017 0.0075 0.0034 0.0056 0.0046 0.0050 . . 0.283 . 0.494 0.494000 . . . . . 1.0E-213 0.000 0.063 . 0.043 0.001 . 0.038 . 0.009 0.494 -1.805 . . . rs374619108 rs374619108 1 1538 10 1/0 0,187,255 +rs879281830 3 195508523 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508523 195508523 Chr3(GRCh37):g.195508523C>T 9928 9928 NM_018406.6:c.9928G>A p.Ala3310Thr p.Ala3310Thr 2 158372 -2863 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs879281830 yes no Frequency 1 0.000000 0 0.000534 0.004296 0.000579 0.000419 0.000127 0.000206 0.000277 0.000174 0.000280 0.004296 73 35 11 3 1 4 15 3 1 136602 8148 19006 7160 7902 19450 54110 17258 3568 0.000132 0.001473 0.000316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 9 6 3 0 0 0 0 0 0 55 23 5 3 1 4 15 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.031 -2.377 A Ala GCC 0.403 T Thr ACC 0.361 3310 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.19 IV.32 196 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G9928A:p.A3310T MUC4:NM_018406:exon2:c.G9928A:p.A3310T . . 0.14981273 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.112 . @ . . . . . 1 0.208 . . 267.0 . . . . . . . . . . -1.8990 -2.006 -1.899 c . . . . . 1.863e-03 . . . 0.0092 0.0027 0 0 0 0.0020 0 0.0015 0.0068 0.0023 0 0 0.0047 0.0017 0 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.082 @ . . . 0.24 0.28 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.079 . . . . . . . Likely_benign . 0 . . . . . . T 0.009 0.001 . . 37 . 0.146 . . 0.247 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.147 . . 0.013 . . . . . . 2 0.061 . . . . . 0.022 . 0.040 . LowAF . rs149395491 . . . . . . . . . . . . I.46 . . 0.743 -1.49 . . E7ESK3 . . . . . 0.002 . . . 0.0047 0.0005 0.0006 0.0004 0.0001 6.674e-05 0.0003 0.0003 0.0002 0.0038 0.0011 0 0 0 0.0009 0.0004 0 . . 0.283 . -1.984 -1.984000 . . . . . 1.0E-196 0.000 0.063 . 0.016 0.001 . 0.021 . 0.002 -1.984 -2.391 . . . . . 1 1538 10 1/0 0,188,255 +rs140709056 3 195508526 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508526 195508526 Chr3(GRCh37):g.195508526G>C 9925 9925 NM_018406.6:c.9925C>G p.His3309Asp p.His3309Asp 2 158372 -2866 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195508529 3.34011 0.32653 72.4027 7.66477 0.682296 77.9229 rs140709056 yes no Frequency 1 0.000000 0 0.000422 0.003255 0.000552 0.000134 0.000116 0.000199 0.000191 0.000057 0.000262 0.003255 61 31 11 1 1 4 11 1 1 144488 9524 19934 7436 8630 20148 57552 17442 3822 0.000111 0.001050 0.000301 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 5 3 0 0 0 0 0 0 45 21 5 1 1 4 11 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.039 1.255 H His CAC 0.587 D Asp GAC 0.539 3309 12 1 0 -1 -2 0.58 I.38 10.IV 13 96 54 81 C0 353.86 0.00 Tolerated 0.23 IV.32 193 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C9925G:p.H3309D MUC4:NM_018406:exon2:c.C9925G:p.H3309D . . 0.1423611 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.182 . . 288.0 . . . . . . . . . . -1.1300 -1.285 -1.130 c . . . . . . . . . 0.0086 0.0023 0 0 0 0.0012 0 0.0015 0.0062 0.0019 0 0 0.0047 0.0006 0 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.276 . . exonic exonic exonic . . 0.174 @ . . . 0.18 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . T 0.008 0.001 . . 37 . 0.135 . . 0.164 . . . . 0.202 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.380 . . 0.256 . . . . . . 2 0.010 . . . . . 0.121 . 0.111 . LowAF . rs140709056 . . . . . . . . . . . . IV.07 . . 0.743 0.743 . . E7ESK3 . . . . . 0.011 . . . 0.0032 0.0003 0.0006 0.0001 0.0001 0 0.0002 0.0003 0.0002 0.0033 0.0010 0 0 0 0.0004 0.0004 0 . . 0.283 . 0.088 0.088000 . . . . . 1.0E-193 0.000 0.063 . 0.062 0.001 . 0.011 . 0.007 0.088 -2.254 . . . . . 1 1538 10 1/0 0,184,255 +rs757957414 3 195508667 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508667 195508667 Chr3(GRCh37):g.195508667T>C 9784 9784 NM_018406.6:c.9784A>G p.Thr3262Ala p.Thr3262Ala 2 158372 -3007 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs757957414 yes no Frequency 1 0.000000 0 0.000180 0.000229 0.000332 0.000449 0.000000 0.000000 0.000246 0.000000 0.000000 0.000449 14 2 4 1 0 0 7 0 0 77642 8726 12040 2228 5962 9390 28402 8928 1966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 2 4 1 0 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.024 -2.700 T Thr ACC 0.361 A Ala GCC 0.403 3262 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0.04 IV.32 201 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A9784G:p.T3262A MUC4:NM_018406:exon2:c.A9784G:p.T3262A . . 0.22477064 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.039 . . 218.0 . . . . . . . . . . -1.6538 -1.807 -1.654 c . . . . . 2.703e-04 . . . 0 0.0007 0 0 0 0.0022 0 0 0 0.0003 0 0 0 0.0017 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.330 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.003 0.099 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.166 . . 0.262 . . . . 0.276 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 0 0 . 0.317 . . 0.431 . . . . . . 2 0.148 . . . . . 0.013 . 0.025 . HET . rs757957414 . . . . . . . . . . . . 0.9524 . . 1.III -2.05 . . E7ESK3 . . . . . 0.025 . . . 0.0002 0.0002 0.0003 0.0005 0 0 0.0002 0 0 0.0003 0.0003 0 0 0 0 0.0005 0 . . 0.283 . -2.465 -2.465000 . . . . . 1.0E-201 0.000 0.063 . 0.062 0.412 . 0.019 . 0.007 -2.465 0.615 . . . . . 1 1538 10 1/0 0,206,255 +rs796595385 3 195508668 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508668 195508668 Chr3(GRCh37):g.195508668G>C 9783 9783 NM_018406.6:c.9783C>G p.Asp3261Glu p.Asp3261Glu 2 158372 -3008 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195508673 5.48956 0.689405 77.6128 9.21919 0.992353 90.3087 rs796595385 no no 0 0.000000 0 transversion C G C>G 0.008 -0.924 D Asp GAC 0.539 E Glu GAG 0.583 3261 12 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 0.64 IV.32 225 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C9783G:p.D3261E MUC4:NM_018406:exon2:c.C9783G:p.D3261E . . 0.22844827 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.068 . . 232.0 . . . . . . . . . . -1.1882 -1.347 -1.188 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.354 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.175 . . 0.228 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.317 . . 0.347 . . . . . . 2 0.481 . . . . . 0.031 . 0.035 . HET . . . . . . . . . . . . . . I.75 . . 1.III -2.05 . . E7ESK3 . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -0.784 -0.784000 . . . . . 1.0E-225 0.000 0.063 . 0.074 0.440 . 0.134 . 0.196 -0.784 0.562 . . . . . 1 1538 10 1/0 0,202,255 +rs796225068 3 195508670 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508670 195508670 Chr3(GRCh37):g.195508670C>G 9781 9781 NM_018406.6:c.9781G>C p.Asp3261His p.Asp3261His 2 158372 -3010 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs796225068 no no 0 0.000000 0 0.000271 0.000612 0.000377 0.000426 0.000171 0.000000 0.000360 0.000000 0.000000 0.000612 20 4 4 1 1 0 10 0 0 73748 6536 10604 2348 5842 8580 27748 10172 1918 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 4 4 1 1 0 10 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 0.286 D Asp GAC 0.539 H His CAC 0.587 3261 12 1 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 353.86 0.00 Tolerated 0.09 IV.32 226 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G9781C:p.D3261H MUC4:NM_018406:exon2:c.G9781C:p.D3261H . . 0.22844827 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.007 . . 232.0 . . . . . . . . . . -1.7732 -1.885 -1.773 c . . . . . . . . . 0 0.0005 0 0 0 0.0016 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.377 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.151 . . 0.221 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.249 . . 0 0 0 0 0 0 . 0.289 . . 0.305 . . . . . . 2 0.319 . . . . . 0.047 . 0.016 . HET . . . . . . . . . . . . . . II.27 . . 1.III -2.05 . . E7ESK3 . . . . . 0.010 . . . 0.0010 0.0003 0.0004 0.0004 0.0002 0 0.0003 0 0 0.0003 0.0003 0 0 0 0 0.0005 0 . . 0.283 . -1.454 -1.454000 . . . . . 1.0000000000000001E-226 0.000 0.063 . 0.083 0.518 . 0.015 . 0.005 -1.454 0.542 . . . . . 1 1538 10 1/0 0,203,255 +rs200473221 3 195508702 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508702 195508702 Chr3(GRCh37):g.195508702G>A 9749 9749 NM_018406.6:c.9749C>T p.Pro3250Leu p.Pro3250Leu 2 158372 -3042 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200473221 yes no Frequency 1 0.000000 0 0.001661 0.001009 0.000653 0.000719 0.001115 0.000400 0.001594 0.006229 0.001711 0.006229 215 10 14 4 11 7 76 87 6 129456 9906 21444 5564 9866 17520 47684 13966 3506 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 215 10 14 4 11 7 76 87 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 1.658 P Pro CCT 0.283 L Leu CTT 0.129 3250 12 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0.02 IV.32 184 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C9749T:p.P3250L MUC4:NM_018406:exon2:c.C9749T:p.P3250L . . 0.122340426 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.252 . @ . . . . . 1 0.123 . . 188.0 . . . . . . . . . . -0.5942 -0.821 -0.594 c . . . . . 4.679e-03 . . . 0.0025 0.0116 0.0352 0.0465 0 0.0228 0 0.0031 0 0.0045 0.0439 0 0.0019 0.0069 0 0.0032 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.191 @ . . . 0.2 0.24 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.048 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.290 . . 0.208 . . . . 0.218 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.622 . . 0.728 . . . . . . 2 0.371 . . . . . 0.270 . 0.040 . LowAF . rs200473221 . . . . . . . . . . . . VII.82 . . 1.III 1.III . . E7ESK3 . . . . . 0.045 . . . 0.0009 0.0015 0.0006 0.0005 0.0005 0.0066 0.0015 0.0014 0.0004 0.0011 0.0026 0.0020 0.0102 0.007 0.0042 0.0023 0.0037 . . 0.283 . 0.494 0.494000 . . . . . 9.999999999999999E-185 0.000 0.063 . 0.124 0.001 . 0.088 . 0.196 0.494 -0.617 . . . rs200473221 rs200473221 1 1538 10 1/0 0,201,255 +rs200052949 3 195509353 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509353 195509353 Chr3(GRCh37):g.195509353G>A 9098 9098 NM_018406.6:c.9098C>T p.Ala3033Val p.Ala3033Val 2 158372 -3693 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200052949 yes no Frequency/1000G 2 0.000000 0 0.129593 0.165700 0.139100 0.040700 0.189900 0.089300 0.001683 0.002391 0.000402 0.000939 0.000000 0.000353 0.002703 0.002444 0.001482 0.002703 255 28 9 7 0 7 154 44 6 151538 11710 22408 7454 11140 19806 56966 18006 4048 0.000106 0.000171 0.000000 0.000000 0.000000 0.000000 0.000211 0.000111 0.000000 8 1 0 0 0 0 6 1 0 239 26 9 7 0 7 142 42 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.024 -1.489 A Ala GCA 0.226 V Val GTA 0.114 3033 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.16 III.91 187 PASS . . . . . 0.17 0.13 0.089 0.041 0.19 0.14 . MUC4:uc021xjp.1:exon2:c.C9098T:p.A3033V MUC4:NM_018406:exon2:c.C9098T:p.A3033V . . 0.12734082 . . @ 34 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.411 . . 267.0 . . . . . . . . . . -1.2935 -1.395 -1.294 c . . . . . 1.124e-03 . . . 0.0038 0.0027 0 0 0 0.0016 0.0056 0.0039 0.0034 0.0031 0 0.0029 0.0033 0.0019 0.0063 0.0039 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.307 . . exonic exonic exonic . . 0.123 0.1296 . . . 0.2 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.042 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.299 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.147 . . 0.040 . . . . . . 2 0.057 . . . . . 0.000 . 0.047 . LowAF . rs200052949 . . . . . . . . . . . . 0.0707 0.0 . I.18 -0.252 . . E7ESK3 . . . . . 0.011 . . . 0.0023 0.0016 0.0004 0.0007 0 0.0023 0.0028 0.0012 0.0004 0.0025 0.0024 0.0015 0.0164 0 0.0035 0.0022 0.0029 . . 0.283 . -0.846 -0.846000 . . . . . 1.0E-187 0.000 0.063 . 0.043 0.139 . 0.010 . 0.002 -0.846 -1.866 . . . rs200052949 rs200052949 1 1538 10 1/0 0,186,255 +rs62282478 3 195509363 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509363 195509363 Chr3(GRCh37):g.195509363G>T 9088 9088 NM_018406.6:c.9088C>A p.Pro3030Thr p.Pro3030Thr 2 158372 -3703 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs62282478 yes no Frequency/1000G 2 0.000000 0 0.103435 0.146700 0.094100 0.036700 0.145100 0.070600 0.000453 0.001048 0.000043 0.000254 0.000542 0.000141 0.000641 0.000487 0.000000 0.001048 71 12 1 2 6 3 38 9 0 156788 11446 23170 7870 11076 21256 59240 18496 4234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 12 1 2 6 3 38 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.008 -0.037 P Pro CCT 0.283 T Thr ACT 0.243 3030 12 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Tolerated 0.07 III.91 218 PASS . . . . . 0.15 0.1 0.071 0.037 0.15 0.094 . MUC4:uc021xjp.1:exon2:c.C9088A:p.P3030T MUC4:NM_018406:exon2:c.C9088A:p.P3030T . . 0.20703125 . . @ 53 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.168 . . 256.0 . . . . . . . . . . -1.2167 -1.318 -1.217 c . . . . . 1.149e-04 . . . 0.0022 0.0003 0 0 0 0.0003 0 0 0.0011 0.0002 0 0 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.079 0.1034 . . . 0.15 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.151 . . 0.294 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.041 . . 0 0 0 0 0 0 . 0.170 . . 0.063 . . . . . . 2 0.038 . . . . . 0.086 . 0.035 . HET . rs199954941 . . . . . . . . . . . . III.65 . . I.18 -1.61 . . E7ESK3 . . . . . 0.014 . . . 0.0005 0.0004 4.439e-05 0.0001 0.0006 0.0005 0.0006 0 0.0001 0.0018 0.0009 0 0.0091 0 0.0004 0.0007 0 . . 0.283 . 0.694 0.694000 . . . . . 1.0E-218 0.000 0.063 . 0.043 0.394 . 0.002 . 0.007 0.694 0.562 . . . rs62282478 rs62282478 1 1538 10 1/0 0,196,255 +rs200717698 3 195509365 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509365 195509365 Chr3(GRCh37):g.195509365C>T 9086 9086 NM_018406.6:c.9086G>A p.Ser3029Asn p.Ser3029Asn 2 158372 -3705 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195509353 1.54995 0.094827 5.61895 0.101753 74.1881 rs200717698 yes no Frequency/1000G 2 0.000000 0 0.103435 0.146700 0.094100 0.036700 0.145100 0.070600 0.000393 0.000986 0.000000 0.000255 0.000548 0.000142 0.000564 0.000326 0.000000 0.000986 61 11 0 2 6 3 33 6 0 155316 11160 23080 7848 10956 21186 58534 18390 4162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 11 0 2 6 3 33 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.024 -0.198 S Ser AGC 0.243 N Asn AAC 0.536 3029 12 1 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.18 III.91 216 PASS . . . . . 0.15 0.1 0.071 0.037 0.15 0.094 . MUC4:uc021xjp.1:exon2:c.G9086A:p.S3029N MUC4:NM_018406:exon2:c.G9086A:p.S3029N . . 0.20229007 . . @ 53 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.117 . . 262.0 . . . . . . . . . . -1.3392 -1.459 -1.339 c . . . . . 7.106e-05 . . . 0.0014 0.0002 0 0 0 0.0001 0 0 0 6.684e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.299 . . exonic exonic exonic . . . 0.1034 . . . 0.15 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.153 . . 0.285 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.152 . . 0 0 0 0 0 0 . 0.135 . . 0.080 . . . . . . 2 0.021 . . . . . 0.060 . 0.009 . HET . rs200717698 . . . . . . . . . . . . 3.1485 . . . . . . E7ESK3 . . . . . 0.006 . . . 0.0005 0.0003 0 0.0001 0.0006 0.0003 0.0006 0 0.0001 0.0017 0.0008 0 0.0102 0 0.0004 0.0006 0 . . 0.283 . -0.192 -0.192000 . . . . . 1.0E-216 0.000 0.063 . 0.016 0.371 . 0.007 . 0.010 -0.192 -0.269 . . . rs201323903 rs201323903 1 1538 10 1/0 0,194,255 +rs201323903 3 195509366 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509366 195509366 Chr3(GRCh37):g.195509366T>C 9085 9085 NM_018406.6:c.9085A>G p.Ser3029Gly p.Ser3029Gly 2 158372 -3706 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195509353 1.54995 0.094827 5.70222 0.159716 74.1881 rs201323903 yes no Frequency/1000G 2 0.000000 0 0.115415 0.161100 0.116600 0.032700 0.170000 0.067700 0.000359 0.000880 0.000000 0.000255 0.000544 0.000142 0.000509 0.000273 0.000000 0.000880 56 10 0 2 6 3 30 5 0 156006 11358 23136 7858 11034 21182 58886 18344 4208 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 10 0 2 6 3 30 5 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.024 0.609 S Ser AGC 0.243 G Gly GGC 0.342 3029 12 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.18 III.91 229 PASS . . . . . 0.16 0.12 0.068 0.033 0.17 0.12 . MUC4:uc021xjp.1:exon2:c.A9085G:p.S3029G MUC4:NM_018406:exon2:c.A9085G:p.S3029G . . 0.23931624 . . @ 56 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.166 . @ . . . . . 1 0.030 . . 234.0 . . . . . . . . . . -1.1068 -1.278 -1.107 c . . . . . 7.041e-05 . . . 0.0014 0.0002 0 0 0 0.0001 0 0 0 6.656e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . 0.1154 . . . 0.14 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.135 . . 0.144 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.378 . . 0.250 . . . . . . 2 0.048 . . . . . 0.081 . 0.034 . HET . rs202033890 . . . . . . . . . . . . III.25 . . . . . . E7ESK3 . . . . . 0.006 . . . 0.0005 0.0003 0 0.0001 0.0006 0.0003 0.0005 0 0.0001 0.0014 0.0008 0 0.01 0 0 0.0007 0 . . 0.283 . 0.577 0.577000 . . . . . 1.0E-229 0.000 0.063 . 0.016 0.369 . 0.020 . 0.009 0.577 0.615 . . . rs201436921 rs201436921 1 1538 10 1/0 0,202,255 +rs201162512 3 195509379 A C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195509379 195509379 Chr3(GRCh37):g.195509379A>C 9072 9072 NM_018406.6:c.9072T>G p.Pro3024= p.Pro3024Pro 2 158372 -3719 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201162512 yes no Frequency/1000G 2 0.000000 0 0.134784 0.166400 0.140100 0.043700 0.204800 0.098000 0.000102 0.000351 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000351 2 2 0 0 0 0 0 0 0 19560 5690 708 110 1516 0 7888 2962 686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion T G T>G 0.039 -0.440 P Pro CCT 0.283 P Pro CCG 0.115 3024 187 PASS . . . . . 0.17 0.13 0.098 0.044 0.2 0.14 . MUC4:uc021xjp.1:exon2:c.T9072G:p.P3024P MUC4:NM_018406:exon2:c.T9072G:p.P3024P . . 0.12852664 . . @ 41 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 319.0 . . . . . . . . . . -0.3583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1348 . . . 0.09 0.17 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs201162512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs201189686 rs201189686 1 1538 10 1/0 0,179,255 +rs200340883 3 195509394 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195509394 195509394 Chr3(GRCh37):g.195509394T>G 9057 9057 NM_018406.6:c.9057A>C p.Thr3019= p.Thr3019Thr 2 158372 -3734 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs1009478833 no no 0 0.000000 0 0.179513 0.234500 0.182000 0.060500 0.257500 0.131100 0.000804 0.001868 0.000046 0.000759 0.000182 0.000165 0.001215 0.000786 0.001326 0.001868 113 22 1 5 2 3 62 13 5 140564 11778 21732 6584 10966 18162 51030 16542 3770 0.000071 0.000170 0.000000 0.000304 0.000000 0.000000 0.000118 0.000000 0.000000 5 1 0 1 0 0 3 0 0 103 20 1 3 2 3 56 13 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.976 1.255 T Thr ACA 0.280 T Thr ACC 0.361 3019 213 PASS . . . . . 0.23 0.18 0.13 0.06 0.26 0.18 . MUC4:uc021xjp.1:exon2:c.A9057C:p.T3019T MUC4:NM_018406:exon2:c.A9057C:p.T3019T . . 0.19407895 . . @ 59 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 304.0 . . . . . . . . . . -0.3886 . . . . . . . . 1.377e-05 . . . 0 0 0 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1795 . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200340883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0006 0 0.0006 0 0.0007 0.0011 0.0006 0.0002 0.0022 0.0020 0.0014 0.0102 0.0013 0.0014 0.0020 0.0045 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs377471271 rs377471271 1 1538 10 1/0 0,186,255 +rs28605870 3 195509563 A T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509563 195509563 Chr3(GRCh37):g.195509563A>T 8888 8888 NM_018406.6:c.8888T>A p.Val2963Asp p.Val2963Asp 2 158372 -3903 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs28605870 yes no Frequency 1 0.000000 0 0.001817 0.004087 0.001506 0.000383 0.002353 0.000932 0.002353 0.000495 0.001164 0.004087 284 49 35 3 26 20 137 9 5 156282 11990 23242 7834 11052 21464 58230 18174 4296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 284 49 35 3 26 20 137 9 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.024 0.205 V Val GTC 0.240 D Asp GAC 0.539 2963 12 1 -3 -3 -6 0 I.38 5.IX 13 84 54 152 C0 353.86 0.00 Deleterious 0.05 IV.32 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T8888A:p.V2963D MUC4:NM_018406:exon2:c.T8888A:p.V2963D . . 0.10728745 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.088 . . 494.0 . . . . . . . . . . -0.8266 -1.123 -0.827 c . . . . . 2.710e-04 . . . 0.0026 0.0007 0 0.0020 0 0.0006 0 0.0005 0.0028 0.0005 0 0.0030 0 0 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . @ . . . 0.18 0.12 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.155 0.006 . . 37 . 0.286 . . 0.120 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.129 . . 0 0 0 0 0 0 . 0.657 . . 0.683 . . . . . . 2 0.654 . . . . . 0.023 . 0.141 . LowAF . rs28605870 . . . . . . . . . . . . I.74 0.012635 . . . . . E7ESK3 . . . . . 0.012 . . . 0.0042 0.0017 0.0015 0.0004 0.0022 0.0002 0.0023 0.0011 0.0009 0.0040 0.0030 0.0030 0 0.0036 0.0021 0.0026 0.0014 . . 0.372 . -0.942 -0.942000 . . . . . 1.0E-177 0.000 0.063 . 0.111 0.162 . 0.108 . 0.255 -0.942 0.649 . rs60024035 . rs28605870 rs28605870 1 1538 10 1/0 0,158,255 +rs199497030 3 195509651 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509651 195509651 Chr3(GRCh37):g.195509651G>A 8800 8800 NM_018406.6:c.8800C>T p.Leu2934Phe p.Leu2934Phe 2 158372 -3991 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Weakly Activated 195509652 7.63351 0.325243 80.5719 8.15499 0.622424 80.5719 rs199497030 yes no Frequency 1 0.000000 0 0.000607 0.005580 0.000089 0.000000 0.000000 0.000000 0.000582 0.000093 0.000000 0.005580 87 51 2 0 0 0 33 1 0 143428 9140 22570 7992 10136 22072 56678 10808 4032 0.000056 0.000875 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 4 0 0 0 0 0 0 0 79 43 2 0 0 0 33 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.165 0.044 L Leu CTT 0.129 F Phe TTT 0.454 2934 12 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.09 IV.32 207 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C8800T:p.L2934F MUC4:NM_018406:exon2:c.C8800T:p.L2934F . . 0.20166667 . . @ 121 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.184 . . 600.0 . . . . . . . . . . -0.9056 -1.167 -0.906 c . . . . . 9.888e-04 . . . 0.0090 0.0016 0.0038 0 0 0.0023 0 0 0.0110 0.0014 0.0047 0 0 0.0030 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.352 . . exonic exonic exonic . . . @ . . . 0.15 0.14 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . T 0.092 0.004 . . 37 . 0.271 . . 0.123 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.125 . . 0 0 0 0 0 0 . 0.571 . . 0.539 . . . . . . 2 0.277 . . . . . 0.082 . 0.016 . HET . rs199497030 . . . . . . . . . . . . III.59 0.019939 . . . . . E7ESK3 . . . . . 0.006 . . . 0.0021 0.0003 9.02e-05 0 0 0.0001 0.0004 0 0 0.0100 0.0041 0 0 0 0 0.0020 0 . . 0.283 . -0.000 -0.000000 . . . . . 1.0E-207 0.000 0.063 . 0.016 0.038 . 0.002 . 0.001 -0.000 0.562 . . . . . 1 1538 10 1/0 0,158,234 +rs201054395 3 195509717 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509717 195509717 Chr3(GRCh37):g.195509717G>T 8734 8734 NM_018406.6:c.8734C>A p.Pro2912Thr p.Pro2912Thr 2 158372 -4057 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201054395 yes no Frequency 1 0.000000 0 0.000032 0.000137 0.000000 0.000000 0.000000 0.000000 0.000050 0.000000 0.000000 0.000137 5 2 0 0 0 0 3 0 0 156408 14624 24142 7694 11354 22176 59758 12248 4412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.055 0.044 P Pro CCT 0.283 T Thr ACT 0.243 2912 12 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Tolerated 0.51 IV.32 199 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C8734A:p.P2912T MUC4:NM_018406:exon2:c.C8734A:p.P2912T . . 0.15539569 . . @ 108 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.180 . . 695.0 . . . . . . . . . . -1.2780 -1.395 -1.278 c . . . . . . . . . 0 0.0003 0 0 0 0.0009 0 0 0 0.0003 0 0 0 0.0013 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . . 0.0008 . . . 0.15 0.15 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.114 0.005 . . 37 . 0.160 . . 0.292 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.061 . . 0 0 0 0 0 0 . 0.151 . . 0.040 . . . . . . 2 0.564 . . . . . 0.119 . 0.041 . HET . rs201054395 . . . . . . . . . . . . IV.97 0.007553 . . . . . E7ESK3 . . . . . 0.019 . . . 0 1.492e-05 0 0 0 0 3.912e-05 0 0 0.0003 0.0001 0 0 0 0 0.0001 0 . . 0.283 . -0.000 -0.000000 . . . . . 1.0E-199 0.000 0.063 . 0.104 0.002 . 0.016 . 0.014 -0.000 0.562 . . . rs201054395 rs201054395 1 1538 10 1/0 0,147,246 +rs28750097 3 195509756 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509756 195509756 Chr3(GRCh37):g.195509756G>C 8695 8695 NM_018406.6:c.8695C>G p.Leu2899Val p.Leu2899Val 2 158372 -4096 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs28750097 yes no Frequency 1 0.000000 0 0.002247 0.004351 0.005792 0.000000 0.000980 0.000000 0.001469 0.001418 0.002041 0.005792 30 13 3 0 1 0 9 3 1 13352 2988 518 92 1020 0 6128 2116 490 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 12 3 0 1 0 9 2 1 0 0 0 0 0 0 0 0 0 RF 90 Genomes transversion C G C>G 0.543 -0.037 L Leu CTC 0.197 V Val GTC 0.240 2899 12 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.14 IV.32 171 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C8695G:p.L2899V MUC4:NM_018406:exon2:c.C8695G:p.L2899V . . 0.10286678 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.029 . @ . . . . . 1 0.126 . . 593.0 . . . . . . . . . . -1.4268 -1.528 -1.427 c . . . . . . . . . 0 0.0001 0 0 0 0 0 0.0003 0 0.0001 0 0 0 0 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . . @ . . . 0.15 0.14 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.065 0.003 . . 37 . 0.125 . . 0.309 . . . . 0.288 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.191 . . 0.063 . . . . . . 2 0.010 . . . . . 0.070 . 0.034 . LowAF . rs201923143 . . . . . . . . . . . . III.25 0.004412 . . . . . E7ESK3 . . . . . 0.008 . . . . . . . . . . . . 0.0044 0.0022 0.0058 0 0.0010 0.0014 0.0015 0.0020 . . 0.283 . -0.000 -0.000000 . . . . . 1.0E-171 0.000 0.063 . 0.090 0.010 . 0.025 . 0.018 -0.000 -2.462 . . . rs28750097 rs28750097 1 1538 10 1/0 0,150,255 +rs201197102 3 195509880 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195509880 195509880 Chr3(GRCh37):g.195509880C>T 8571 8571 NM_018406.6:c.8571G>A p.Val2857= p.Val2857Val 2 158372 -4220 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs1036203735 no no 0 0.000000 0 0.008482 0.009477 0.014388 0.000000 0.004870 0.000000 0.003697 0.021259 0.009740 0.021259 73 25 4 0 3 0 13 25 3 8606 2638 278 74 616 0 3516 1176 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 73 25 4 0 3 0 13 25 3 0 0 0 0 0 0 0 0 0 RF 130 Genomes transition G A G>A 0.008 0.044 V Val GTG 0.468 V Val GTA 0.114 2857 143 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G8571A:p.V2857V MUC4:NM_018406:exon2:c.G8571A:p.V2857V . . 0.1031175 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 417.0 . . . . . . . . . . -0.5728 . . . . . . . . 2.130e-04 . . . 0 0.0006 0 0 0 0.0013 0.0062 0 0 0.0002 0 0 0.0006 0.0002 0.0064 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.15 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs201197102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0095 0.0085 0.0144 0 0.0049 0.0213 0.0037 0.0097 . . . . . . . . . . . 1.0E-143 . . . . . . . . . . . . . . rs201889850 rs201889850 1 1538 10 1/0 0,166,255 +. 3 195510348 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510348 195510348 Chr3(GRCh37):g.195510348G>C 8103 8103 NM_018406.6:c.8103C>G p.Asp2701Glu p.Asp2701Glu 2 158372 -4688 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195510353 5.48956 0.689405 77.6128 9.21919 0.992353 90.3087 transversion C G C>G 0.000 0.367 D Asp GAC 0.539 E Glu GAG 0.583 2701 12 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 0.19 IV.32 175 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C8103G:p.D2701E MUC4:NM_018406:exon2:c.C8103G:p.D2701E . . 0.103626944 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.094 . @ . . . . . 1 0.007 . . 193.0 . . . . . . . . . . -0.7749 -0.946 -0.775 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.344 . . exonic exonic exonic . . 0.190 @ . . . 0.23 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.208 . . 0.238 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.058 . . . . . 0.072 . 0.029 . LowAF . . . . . . . . . . . . . . III.65 . . 1.II 1.II . . . . . . . . 0.050 . . . . . . . . . . . . . . . . . . . . . . 0.059 . 0.489 0.489000 . . . . . 1.0E-175 0.000 0.063 . 0.095 0.008 . 0.006 . 0.166 0.489 0.562 . . . rs2911269 rs2911269 1 1538 10 1/0 0,198,255 +rs756052204 3 195510470 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510470 195510470 Chr3(GRCh37):g.195510470T>C 7981 7981 NM_018406.6:c.7981A>G p.Ser2661Gly p.Ser2661Gly 2 158372 -4810 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510457 2.76856 0.189446 VI.64 0.280252 76.4142 rs756052204 yes no Frequency 1 0.000000 0 0.000030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 0.000077 1 0 0 0 0 0 1 0 0 32808 1392 5010 1808 2870 4810 13070 2900 948 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes transition A G A>G 0.000 0.286 S Ser AGC 0.243 G Gly GGC 0.342 2661 12 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.29 IV.32 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A7981G:p.S2661G MUC4:NM_018406:exon2:c.A7981G:p.S2661G . . 0.10691824 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.015 . . 159.0 . . . . . . . . . . -1.5953 -1.773 -1.595 c . . . . . 3.317e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.330 . . exonic exonic exonic . . 0.077 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.123 . . 0.244 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.168 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.083 . . . . . 0.128 . 0.030 . LowAF . rs756052204 . . . . . . . . . . . . IV.36 . . 1.II -1.7 . . . . . . . . 0.004 . . . 0 3.048e-05 0 0 0 0 7.651e-05 0 0 . . . . . . . . . . 0.283 . -1.747 -1.747000 . . . . . 1.0E-177 0.000 0.063 . 0.074 0.016 . 0.009 . 0.004 -1.747 -1.866 . . . . . 1 1538 10 1/0 0,207,255 +. 3 195510476 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510476 195510476 Chr3(GRCh37):g.195510476C>G 7975 7975 NM_018406.6:c.7975G>C p.Val2659Leu p.Val2659Leu 2 158372 -4816 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510468 7.63351 0.325243 80.5719 8.76448 0.670309 81.577 0.001188 0.005165 0.000889 0.000699 0.000962 0.001575 0.001193 0.000179 0.001370 0.005165 63 10 9 2 4 12 23 1 2 53018 1936 10120 2862 4158 7618 19276 5588 1460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 10 9 2 4 12 23 1 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 0.044 V Val GTC 0.240 L Leu CTC 0.197 2659 12 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.24 IV.32 255 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G7975C:p.V2659L MUC4:NM_018406:exon2:c.G7975C:p.V2659L . . 0.33004925 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.269 . @ . . . . . 1 0.007 . . 203.0 . . . . . . . . . . -1.0907 -1.302 -1.091 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.340 . . exonic exonic exonic . . 0.069 @ . . . 0.2 0.22 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.189 . . 0.288 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.443 . . . . . 0.214 . 0.028 . HET . . . . . . . . . . . . . . VI.19 . . 1.II -2.03 . . . . . . . . 0.003 . . . 0.0052 0.0012 0.0009 0.0007 0.0010 0.0002 0.0012 0.0014 0.0016 0 0 0 0 0 0 0 0 . . 0.283 . -0.796 -0.796000 . . . . . 1.0E-255 0.000 0.063 . 0.135 0.011 . 0.005 . 0.163 -0.796 -0.609 . . . rs62282477 rs62282477 1 1538 10 1/0 0,217,255 +rs776617846 3 195510601 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510601 195510601 Chr3(GRCh37):g.195510601A>G 7850 7850 NM_018406.6:c.7850T>C p.Val2617Ala p.Val2617Ala 2 158372 -4941 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs776617846 yes no Frequency 1 0.000000 0 0.009740 0.036232 0.016304 0.000000 0.080000 0.006211 0.004415 0.000000 0.000000 0.080000 18 5 3 0 4 2 4 0 0 1848 138 184 108 50 322 906 96 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 5 3 0 4 2 4 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 0.044 V Val GTA 0.114 A Ala GCA 0.226 2617 12 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.41 IV.32 192 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T7850C:p.V2617A MUC4:NM_018406:exon2:c.T7850C:p.V2617A . . 0.14035088 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.084 . @ . . . . . 1 0.021 . . 114.0 . . . . . . . . . . -0.9909 -1.207 -0.991 c . . . . . 3.009e-03 . . . 0 0 . 0 . 0 0 0 0 0 . . 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.330 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.156 . . 0.268 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.096 . . . . . 0.033 . 0.032 . LowAF . rs776617846 . . . . . . . . . . . . 2.027 0.240506 . . . . . . . . . . . 0.004 . . . 0.0362 0.0098 0.0165 0 0.08 0 0.0044 0 0.0062 . 0 0 . . . . . . . 0.283 . -0.437 -0.437000 . . . . . 9.999999999999999E-193 0.000 0.063 . 0.138 0.010 . 0.063 . 0.173 -0.437 -0.542 . . . . . 1 1538 10 1/0 0,224,255 +. 3 195510611 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510611 195510611 Chr3(GRCh37):g.195510611G>T 7840 7840 NM_018406.6:c.7840C>A p.Leu2614Ile p.Leu2614Ile 2 158372 -4951 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 0.008197 0.012987 0.021277 0.008772 0.046875 0.016000 0.003210 0.000000 0.000000 0.046875 18 2 4 1 3 4 4 0 0 2196 154 188 114 64 250 1246 128 52 0.111111 0.000000 0.250000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 3186 Exomes transversion C A C>A 0.520 -0.682 L Leu CTT 0.129 I Ile ATT 0.356 2614 12 1 2 2 2 0 0 4.IX 5.II 111 111 5 C0 353.86 0.00 Tolerated 0.25 IV.32 241 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C7840A:p.L2614I MUC4:NM_018406:exon2:c.C7840A:p.L2614I . . 0.2767857 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.119 . @ . . . . . 1 0.025 . . 112.0 . . . . . . . . . . -0.9748 -1.183 -0.975 c . . . . . . . . . 0.0179 0.0028 . 0 0 0 0 0 0.025 0.0036 . . 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.187 . . 0.237 . . . . 0.293 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.260 . . . . . 0.031 . 0.029 . HET . . . . . . . . . . . . . . I.82 . . . . . . . . . . . . 0.012 . . . 0.0130 0.0082 0.0213 0.0088 0.0469 0 0.0032 0 0.016 . . . . . . . . . . 0.283 . -0.437 -0.437000 . . . . . 1.0E-241 0.000 0.063 . 0.043 0.001 . 0.016 . 0.003 -0.437 -2.254 . . . . . 1 1538 10 1/0 0,235,255 +rs758091975 3 195510613 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510613 195510613 Chr3(GRCh37):g.195510613C>T 7838 7838 NM_018406.6:c.7838G>A p.Ser2613Asn p.Ser2613Asn 2 158372 -4953 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510601 2.76856 0.189446 6.66825 0.196338 76.4142 rs758091975 yes no Frequency 1 0.000000 0 0.007370 0.000000 0.030864 0.021739 0.080645 0.000000 0.001082 0.000000 0.000000 0.080645 13 0 5 2 5 0 1 0 0 1764 168 162 92 62 200 924 114 42 0.153846 0.000000 0.400000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 9 0 1 2 5 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 4440 Exomes transition G A G>A 0.787 0.125 S Ser AGC 0.243 N Asn AAC 0.536 2613 12 2 Mouse 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Deleterious 0 IV.32 245 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G7838A:p.S2613N MUC4:NM_018406:exon2:c.G7838A:p.S2613N . . 0.29090908 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.302 . @ . . . . . 1 0.017 . . 110.0 . . . . . . . . . . -0.7828 -0.956 -0.783 c . . . . . 2.145e-04 . . . 0 0 0 0 . 0 . 0 0 0 0 . 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.178 0.007 . . 37 . 0.175 . . 0.255 . . . . 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.168 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.032 . . . . . 0.072 . 0.012 . HET . rs758091975 . . . . . . . . . . . . III.27 0.033333 . . . . . . . . . . . 0.043 . . . 0 0.0074 0.0309 0.0217 0.0806 0 0.0011 0 0 . . . . . . . . . . 0.283 . 0.482 0.482000 . . . . . 1.0E-245 0.000 0.063 . 0.043 0.003 . 0.003 . 0.004 0.482 -1.906 . . . . . 1 1538 10 1/0 0,236,255 +. 3 195510614 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510614 195510614 Chr3(GRCh37):g.195510614T>C 7837 7837 NM_018406.6:c.7837A>G p.Ser2613Gly p.Ser2613Gly 2 158372 -4954 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510601 2.76856 0.189446 VI.64 0.280252 76.4142 transition A G A>G 0.945 1.900 S Ser AGC 0.243 G Gly GGC 0.342 2613 12 2 Mouse 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Deleterious 0 IV.32 201 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A7837G:p.S2613G MUC4:NM_018406:exon2:c.A7837G:p.S2613G . . 0.1627907 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.032 . . 129.0 . . . . . . . . . . -0.7810 -0.953 -0.781 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.054 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.162 0.006 . . 37 . 0.187 . . 0.288 . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.221 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.056 . . . . . 0.181 . 0.047 . HET . . . . . . . . . . . . . . 5.904 . . . . . . . . . . . . 0.142 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.402 0.402000 . . . . . 1.0E-201 0.000 0.063 . 0.062 0.004 . 0.101 . 0.004 0.402 -1.866 . . . . . 1 1538 10 1/0 0,220,255 +rs368501323 3 195510636 C A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510636 195510636 Chr3(GRCh37):g.195510636C>A 7815 7815 NM_018406.6:c.7815G>T p.Gln2605His p.Gln2605His 2 158372 -4976 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs368501323 no no 0 0.000000 0 0.000473 0.002469 0.000731 0.000000 0.001304 0.000000 0.000000 0.001185 0.000000 0.002469 7 2 2 0 2 0 0 1 0 14786 810 2736 598 1534 2418 5442 844 404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 2 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.102 0.528 Q Gln CAG 0.744 H His CAT 0.413 2605 12 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Tolerated 0.06 IV.32 135 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G7815T:p.Q2605H MUC4:NM_018406:exon2:c.G7815T:p.Q2605H . . 0.33802816 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.138 . @ . . . . . 1 0.018 . . 142.0 . . . . . . . . . . -0.7566 -0.991 -0.757 c . . . . . . . . . 0.0227 0.0058 0 0 . 0.0128 0 0.0017 0.0323 0.0051 0 . 0.0833 0 0 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.386 . . exonic exonic exonic . . . @ . . . 0.27 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.323 . . 0.148 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.129 . . 0 0 0 0 0 0 . 0.500 . . 0.492 . . . . . . 2 0.157 . . . . . 0.268 . 0.077 . HET . . . . . . . . . . . . . . VII.18 . . . . . . E7ESK3 . . . . . 0.002 . . . 0.0031 0.0003 0.0007 0 0.0007 0 0 0 0 0 0.0042 0 0 0.125 0.0106 0 0 . . 0.283 . 0.482 0.482000 . . . . . 1.0E-135 0.000 0.063 . 0.062 0.004 . 0.148 . 0.003 0.482 -2.298 . . . . . 1 1538 10 1/0 0,242,254 +rs76839144 3 195510701 A C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510701 195510701 Chr3(GRCh37):g.195510701A>C 7750 7750 NM_018406.6:c.7750T>G p.Ser2584Ala p.Ser2584Ala 2 158372 -5041 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs76839144 no no 0 0.000000 0 0.004932 0.000661 0.001181 0.006193 0.000543 0.006686 0.006943 0.006400 0.004484 0.006943 731 8 25 46 6 126 394 108 18 148224 12108 21166 7428 11040 18846 56746 16876 4014 0.002307 0.000000 0.000000 0.004039 0.000181 0.003714 0.002890 0.004148 0.001495 171 0 0 15 1 35 82 35 3 389 8 25 16 4 56 230 38 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.016 0.690 S Ser TCA 0.148 A Ala GCA 0.226 2584 12 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Deleterious 0.04 IV.32 174 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T7750G:p.S2584A MUC4:NM_018406:exon2:c.T7750G:p.S2584A . . 0.100890204 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.024 . . 337.0 . . . . . . . . . . -0.9540 -1.100 -0.954 c . . . . . . . . . 0.0058 0.0040 0 0.0021 0 0.0061 0.0063 0.0018 0.0057 0.0034 0 0 0.0053 0.0053 0 0.0018 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.200 @ . . . 0.24 0.25 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . T 0.010 0.001 . . 37 . 0.162 . . 0.146 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.378 . . 0.330 . . . . . . 2 0.469 . . . . . 0.203 . 0.054 . LowAF . rs76839144 . . . . . . . . . . . . 6.326 0.083086 . I.19 I.19 . . E7ESK3 . . . . . 0.011 . . . 0.0010 0.0056 0.0012 0.0063 0.0006 0.0075 0.0080 0.0053 0.0067 0.0002 0.0003 0 0 0 0 0.0006 0 . . 0.372 . 0.553 0.553000 . . . . . 1.0E-174 0.000 0.063 . 0.083 0.039 . 0.004 . 0.270 0.553 0.649 . . . rs76839144 rs76839144 1 1538 10 1/0 0,174,255 +rs62282480 3 195510749 C A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510749 195510749 Chr3(GRCh37):g.195510749C>A 7702 7702 NM_018406.6:c.7702G>T p.Ala2568Ser p.Ala2568Ser 2 158372 -5089 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510736 0.966108 0.262924 I.58 0.719051 rs62282480 yes no Frequency/1000G 2 0.000000 0 0.319489 0.387300 0.324100 0.188500 0.359800 0.315600 transversion G T G>T 0.016 -0.924 A Ala GCA 0.226 S Ser TCA 0.148 2568 12 1 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Tolerated 0.22 IV.32 255 PASS . . . . . 0.39 0.32 0.32 0.19 0.36 0.32 . MUC4:uc021xjp.1:exon2:c.G7702T:p.A2568S MUC4:NM_018406:exon2:c.G7702T:p.A2568S . . 0.62371135 . . @ 242 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.165 . @ . . . . . 1 0.255 . . 388.0 . . . . . . . . . . -1.4743 -1.543 -1.474 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.398 . . exonic exonic exonic . . 0.119 0.3195 . . . 0.36 0.31 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.142 . . 0.272 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.231 . . 0.173 . . . . . . 2 0.117 . . . . . 0.056 . 0.080 . HET . rs62282480 0.011 0.007 . . . . . . . . . . 3.0061 0.505988 . 1.V -0.356 . . E7ESK3 . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -0.428 -0.428000 . . . . . 1.0E-255 0.000 0.063 . 0.043 0.002 . 0.001 . 0.006 -0.428 -2.465 0.011 . rs62282480 rs62282480 rs62282480 1 1538 10 1/0 0,203,204 +rs747010184 3 195510896 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510896 195510896 Chr3(GRCh37):g.195510896G>A 7555 7555 NM_018406.6:c.7555C>T p.Pro2519Ser p.Pro2519Ser 2 158372 -5236 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs747010184 yes no Frequency 1 0.000000 0 0.000193 0.000503 0.000176 0.000000 0.000926 0.000054 0.000192 0.000059 0.000300 0.000926 25 5 3 0 4 1 10 1 1 129712 9950 17092 7370 4320 18450 52116 17078 3336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 5 3 0 4 1 10 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.299 0.125 P Pro CCC 0.328 S Ser TCC 0.220 2519 12 2 C. elegans -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.53 III.79 185 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C7555T:p.P2519S MUC4:NM_018406:exon2:c.C7555T:p.P2519S . . 0.13457076 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.277 . . 431.0 . . . . . . . . . . -1.4278 -1.501 -1.428 c . . . . . 1.703e-05 . . . 0 4.765e-05 0 0 0 0.0001 0 0 0 5.455e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.091 0.004 . . 37 . 0.106 . . 0.349 . . . . 0.209 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.138 . . 0 0 0 0 0 0 . 0.151 . . 0.013 . . . . . . 2 0.038 . . . . . 0.127 . 0.051 . LowAF . rs747010184 . . . . . . . . . . . . IV.61 . . . . . . E7ESK3 . . . . . 0.015 . . . 0.0002 6.895e-05 0.0001 0 0.0005 0 4.383e-05 0 5.42e-05 0.0009 0.0012 0.0027 0 0.0035 0.0008 0.0012 0.0025 . . 0.372 . 0.406 0.406000 . . . . . 1.0E-185 0.000 0.063 . 0.111 0.016 . 0.003 . 0.005 0.406 -2.009 . . . . . 1 1538 10 1/0 0,166,255 +rs576459717 3 195510910 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510910 195510910 Chr3(GRCh37):g.195510910G>T 7541 7541 NM_018406.6:c.7541C>A p.Pro2514His p.Pro2514His 2 158372 -5250 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 0.000032 0.000000 0.000042 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 5 0 1 0 0 0 4 0 0 155650 12784 23562 7860 10240 21676 59752 15474 4302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.913 1.093 P Pro CCT 0.283 H His CAT 0.413 2514 12 3 C. elegans -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 353.86 0.00 Tolerated 0.36 III.79 178 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C7541A:p.P2514H MUC4:NM_018406:exon2:c.C7541A:p.P2514H . . 0.10778443 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.199 . . 501.0 . . . . . . . . . . -0.7593 -1.016 -0.759 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.356 . . exonic exonic exonic . . . 0.0002 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.234 0.009 . . 37 . 0.297 . . 0.197 . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.548 . . 0.525 . . . . . . 2 0.453 . . . . . 0.231 . 0.056 . LowAF . . . . . . . . . . . . . . VI.46 . . . . . . E7ESK3 . . . . . 0.089 . . . 0 2.922e-05 0 0 0 0 7.899e-05 0 0 0 5.338e-05 0.0020 0 0 0 0 0 . . 0.372 . -0.000 -0.000000 . . . . . 1.0E-178 0.002 0.151 . 0.126 0.005 . 0.280 . 0.166 -0.000 0.562 . . . . . 1 1538 10 1/0 0,157,255 +rs75075507 3 195511070 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511070 195511070 Chr3(GRCh37):g.195511070C>G 7381 7381 NM_018406.6:c.7381G>C p.Asp2461His p.Asp2461His 2 158372 -5410 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs75075507 yes no Frequency 1 0.000000 0 0.001319 0.001362 0.000897 0.000444 0.000377 0.001063 0.002165 0.000383 0.001693 0.002165 177 14 18 3 4 19 107 6 6 134220 10282 20076 6750 10616 17868 49420 15664 3544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 177 14 18 3 4 19 107 6 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.063 0.932 D Asp GAC 0.539 H His CAC 0.587 2461 12 1 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 353.86 0.00 Not scored 0.0 0.0 194 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G7381C:p.D2461H MUC4:NM_018406:exon2:c.G7381C:p.D2461H . . 0.14285715 . . @ 113 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.079 . @ . . . . . 1 0.109 . . 791.0 . . . . . . . . . . -1.2242 -1.371 -1.224 c . . . . . . . . . 0.0010 0.0004 0 0 0 0.0008 0 0 0.0007 0.0004 0 0 0.0007 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . . @ . . . 0.23 0.21 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.052 0.003 . . 37 . 0.167 . . 0.172 . . . . 0.182 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.310 . . 0.121 . . . . . . 2 0.555 . . . . . 0.108 . 0.055 . LowAF . rs75075507 . . . . . . . . . . . . IV.98 0.005952 . . . . . E7ESK3 . . . . . 0.013 . . . 0.0021 0.0014 0.0009 0.0003 0.0004 0.0002 0.0023 0.0020 0.0011 0.0006 0.0010 0 0.0076 0 0.0013 0.0013 0 . . 0.819 . -0.437 -0.437000 . . . . . 1.0E-194 0.000 0.063 . 0.104 0.011 . 0.018 . 0.003 -0.437 -2.598 . . . rs75075507 rs75075507 1 1538 10 1/0 0,140,230 +rs768794411 3 195511094 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511094 195511094 Chr3(GRCh37):g.195511094T>C 7357 7357 NM_018406.6:c.7357A>G p.Ser2453Gly p.Ser2453Gly 2 158372 -5434 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195511081 0.012609 3.25374 0.02696 71.6229 rs768794411 yes no Frequency 1 0.000000 0 0.000215 0.000311 0.000000 0.000000 0.000000 0.001317 0.000031 0.000052 0.000000 0.001317 36 4 0 0 0 29 2 1 0 167726 12874 23532 8276 12160 22022 65274 19048 4540 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 4 0 0 0 29 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.315 0.932 S Ser AGC 0.243 G Gly GGC 0.342 2453 12 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Not scored 0.0 0.0 158 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A7357G:p.S2453G MUC4:NM_018406:exon2:c.A7357G:p.S2453G . . 0.1015625 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.053 . . 768.0 . . . . . . . . . . -1.0352 -1.152 -1.035 c . . . . . 9.171e-05 . . . 0.0009 0.0003 0 0 0 0 0 0.0005 0.0012 0.0003 0 0 0 0 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . 0.191 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.107 . . 0.163 . . . . 0.250 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.380 . . 0.256 . . . . . . 2 0.457 . . . . . 0.091 . 0.034 . LowAF . rs768794411 . . . . . . . . . . . . 4.0209 . . 1.IV 1.IV . . E7ESK3 . . . . . 0.055 . . . 0.0003 0.0002 0 0 0 0 1.776e-05 0 0.0013 0.0003 0.0002 0 0 0 0.0003 0.0001 0 . . 0.819 . 0.513 0.513000 . . . . . 1.0E-158 0.000 0.063 . 0.016 0.003 . 0.020 . 0.001 0.513 -1.866 . . . . . 1 1538 10 1/0 0,139,250 +rs199533374 3 195511273 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511273 195511273 Chr3(GRCh37):g.195511273G>A 7178 7178 NM_018406.6:c.7178C>T p.Ala2393Val p.Ala2393Val 2 158372 -5613 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195511264 2.46341 0.527454 3.63521 0.726853 rs199533374 yes no Frequency 1 0.000000 0 0.002522 0.005321 0.000659 0.001318 0.003998 0.001497 0.003087 0.000903 0.001446 0.005321 182 41 6 3 16 12 93 8 3 72170 7706 9106 2276 4002 8016 30126 8864 2074 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182 41 6 3 16 12 93 8 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.489 A Ala GCA 0.226 V Val GTA 0.114 2393 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C7178T:p.A2393V MUC4:NM_018406:exon2:c.C7178T:p.A2393V . . 0.12293729 . . @ 149 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.334 . . 1212.0 . . . . . . . . . . -1.8702 -1.974 -1.870 c . . . . . . . . . 0.0234 0.0069 0.0092 0 0.0079 0.0079 0.0128 0.0017 0.0265 0.0060 0.0111 0 0.0116 0.0052 0 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . . @ . . . 0.19 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.150 . . 0.255 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.064 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 2 0.227 . . . . . 0.155 . 0.052 . LowAF . rs199533374 . . . . . . . . . . . . V.01 0.118841 . . . . . E7ESK3 . . . . . 0.005 . . . 0.0077 0.0031 0.0006 0.0014 0.0065 0.0012 0.0047 0.0023 0.0015 0.0042 0.0012 0.0014 0 0 0.0003 0.0004 0 . . 0.392 . -1.752 -1.752000 . . . . . 1.0E-179 0.100 0.226 . 0.124 0.204 . 0.186 . 0.005 -1.752 -2.423 . . . rs199533374 rs199533374 1 1538 10 1/0 0,120,225 +rs368930530 3 195511500 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511500 195511500 Chr3(GRCh37):g.195511500G>C 6951 6951 NM_018406.6:c.6951C>G p.His2317Gln p.His2317Gln 2 158372 -5840 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195511505 3.34011 0.32653 72.4027 7.19963 0.921257 85.0987 rs368930530 no no 0 0.000000 0 0.000274 0.000831 0.000185 0.000000 0.000000 0.000156 0.000186 0.000910 0.000268 0.000910 38 5 4 0 0 3 10 15 1 138536 6016 21576 6886 10704 19262 53882 16480 3730 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 5 4 0 0 3 10 15 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.024 0.125 H His CAC 0.587 Q Gln CAG 0.744 2317 12 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.31 III.79 183 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C6951G:p.H2317Q MUC4:NM_018406:exon2:c.C6951G:p.H2317Q . . 0.11851852 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.044 . @ . . . . . 1 0.073 . . 270.0 . . . . . . . . . . -0.9812 -1.183 -0.981 c . . . . . . . . . 0.0043 0.0038 0.0172 0.0022 0 0.0065 0 0.0013 0.0078 0.0016 0.0154 0.0035 0 0.0010 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.270 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . 0.098 . . . . . . . . . 37 . 0.157 . . 0.240 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.399 . . 0.473 . . . . . . 2 0.264 . . . . . 0.107 . 0.135 . LowAF . rs368930530 . . . . . . . . . . . . IV.52 . . . . . . E7ESK3 . . . . . 0.025 . . . 0.0011 0.0001 4.764e-05 0 0 0 9.137e-05 0.0003 0.0002 0.0004 0.0014 0.0051 0 0 0.0062 0.0006 0 . . 0.372 . -0.417 -0.417000 . . . . . 1.0E-183 0.000 0.063 . 0.043 0.004 . 0.059 . 0.011 -0.417 -0.219 . . . rs368930530 rs368930530 1 1538 10 1/0 0,185,255 +rs75599746 3 195511513 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511513 195511513 Chr3(GRCh37):g.195511513G>A 6938 6938 NM_018406.6:c.6938C>T p.Ala2313Val p.Ala2313Val 2 158372 -5853 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195511504 2.45628 0.645482 3.62808 0.791765 rs75599746 yes no Frequency 1 0.000000 0 0.001153 0.003993 0.000401 0.000175 0.000439 0.000126 0.001350 0.002317 0.000371 0.003993 123 18 6 1 2 2 59 34 1 106690 4508 14978 5710 4558 15864 43708 14672 2692 0.000150 0.001775 0.000000 0.000000 0.000000 0.000000 0.000046 0.000409 0.000000 8 4 0 0 0 0 1 3 0 107 10 6 1 2 2 57 28 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.974 A Ala GCA 0.226 V Val GTA 0.114 2313 12 2 C. elegans 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.18 III.79 215 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C6938T:p.A2313V MUC4:NM_018406:exon2:c.C6938T:p.A2313V . . 0.22131148 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.332 . . 244.0 . . . . . . . . . . -1.6464 -1.798 -1.646 c . . . . . 2.235e-04 . . . 0.0107 0.0003 0 0 0 0 0 0 0.0102 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.342 . . exonic exonic exonic . . . @ . . . 0.2 0.13 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.060 . . . . . . . Likely_benign . 0 . 0.111 . . . . . . . . . 37 . 0.135 . . 0.151 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.378 . . 0.250 . . . . . . 2 0.010 . . . . . 0.155 . 0.309 . HET . rs75599746 . . . . . . . . . . . . V.01 0.133178 . . . . . E7ESK3 . . . . . 0.009 . . . 0.0084 0.0011 0.0003 0.0002 0.0003 0.0022 0.0015 0.0005 0.0001 0.0011 0.0012 0.0019 0 0.0010 0.0028 0.0009 0 . . 0.372 . -1.752 -1.752000 . . . . . 1.0E-215 0.001 0.137 . 0.062 0.034 . 0.022 . 0.007 -1.752 -2.009 . . . rs71321833 rs71321833 1 1538 10 1/0 0,198,255 +rs74542179 3 195511547 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511547 195511547 Chr3(GRCh37):g.195511547C>T 6904 6904 NM_018406.6:c.6904G>A p.Ala2302Thr p.Ala2302Thr 2 158372 -5887 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs74542179 yes no Frequency 1 0.000000 0 0.000208 0.001460 0.000138 0.000000 0.000000 0.000000 0.000200 0.000498 0.000429 0.001460 18 4 2 0 0 0 7 4 1 86558 2740 14500 5484 2924 15536 35010 8034 2330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 4 2 0 0 0 7 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.409 A Ala GCC 0.403 T Thr ACC 0.361 2302 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.37 III.79 185 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G6904A:p.A2302T MUC4:NM_018406:exon2:c.G6904A:p.A2302T . . 0.1241535 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.177 . . 443.0 . . . . . . . . . . -1.9988 -2.063 -1.999 c . . . . . 1.974e-04 . . . 0.0054 0.0004 0 0 0 0.0002 0 0.0001 0.0033 0.0002 0 0 0 0.0003 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.352 . . exonic exonic exonic . . . @ . . . 0.21 0.21 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . 0.253 . . . . T 0.063 0.003 . . 37 . 0.096 . . 0.166 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.066 . . 0 0 0 0 0 0 . 0.119 . . 0.013 . . . . . . 2 0.318 . . . . . 0.039 . 0.169 . LowAF . rs74542179 . . . . . . . . . . . . II.43 0.045635 . . . . . E7ESK3 . . . . . 0.002 . . . 0 0.0001 0.0001 0 0 0.0003 0.0002 0 0 0.0034 0.0012 0 0 0 0.0030 0.0002 0.0046 . . 0.372 . -1.879 -1.879000 . . . . . 1.0E-185 0.000 0.063 . 0.090 0.298 . 0.024 . 0.244 -1.879 0.542 . . . rs74542179 rs74542179 1 1538 10 1/0 0,164,252 +rs79961534 3 195511556 T A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511556 195511556 Chr3(GRCh37):g.195511556T>A 6895 6895 NM_018406.6:c.6895A>T p.Thr2299Ser p.Thr2299Ser 2 158372 -5896 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs79961534 yes no Frequency 1 0.000000 0 0.000062 0.000277 0.000000 0.000000 0.000000 0.000097 0.000040 0.000000 0.000000 0.000277 4 2 0 0 0 1 1 0 0 64038 7208 10858 2362 1606 10340 24954 5022 1688 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.000 0.044 T Thr ACA 0.280 S Ser TCA 0.148 2299 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.45 III.79 200 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A6895T:p.T2299S MUC4:NM_018406:exon2:c.A6895T:p.T2299S . . 0.15936255 . . @ 80 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.043 . . 502.0 . . . . . . . . . . -1.2340 -1.343 -1.234 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . . @ . . . 0.14 0.15 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.111 . . . . T 0.172 0.006 . . 37 . 0.130 . . 0.145 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.334 . . 0.223 . . . . . . 2 0.538 . . . . . 0.049 . 0.044 . HET . rs79961534 . . . . . . . . . . . . II.52 0.043651 . . . . . E7ESK3 . . . . . 0.022 . . . 0 3.752e-05 0 0 0 0 5.22e-05 0 9.671e-05 0.0006 0.0002 0 0 0 0 0 0 . . 0.372 . 0.408 0.408000 . . . . . 1.0E-200 0.000 0.063 . 0.104 0.092 . 0.029 . 0.246 0.408 0.615 . . . rs79961534 rs79961534 1 1538 10 1/0 0,162,246 +rs199625793 3 195512568 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195512568 195512568 Chr3(GRCh37):g.195512568T>C 5883 5883 NM_018406.6:c.5883A>G p.Val1961= p.Val1961Val 2 158372 5801 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Strongly Activated 195512560 3.63399 0.544819 4.33178 0.679925 rs199625793 yes no Frequency 1 0.000000 0 0.002430 0.005591 0.001258 0.000824 0.002844 0.000791 0.001579 0.007977 0.002520 0.007977 328 49 23 6 18 15 90 118 9 134972 8764 18288 7280 6330 18956 56990 14792 3572 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 328 49 23 6 18 15 90 118 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.602 V Val GTA 0.114 V Val GTG 0.468 1961 176 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A5883G:p.V1961V MUC4:NM_018406:exon2:c.A5883G:p.V1961V . . 0.119878605 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 659.0 . . . . . . . . . . -0.3468 . . . . . . . . 4.749e-04 . . . 0.0020 0.0014 0.0023 0.0033 0 0.0018 0 0.0006 0.0006 0.0003 0 0.0019 0 0 0 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.31 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs199625793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0026 0.0012 0.0008 0.0033 0.0087 0.0018 0.0030 0.0008 0.0042 0.0016 0.0025 0 0 0.0014 0.0007 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs199625793 rs199625793 1 1538 14 1/0 0,147,255 +rs77396971 3 195513426 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195513426 195513426 Chr3(GRCh37):g.195513426G>T 5025 5025 NM_018406.6:c.5025C>A p.Thr1675= p.Thr1675Thr 2 158372 4943 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Donor Strongly Activated 195513425 0.009933 63.4885 3.34011 0.32653 72.4027 rs77396971 yes no Frequency/1000G 2 0.000000 0 0.299321 0.311600 0.289400 0.348200 0.290300 0.232000 transversion C A C>A 0.000 -0.198 T Thr ACC 0.361 T Thr ACA 0.280 1675 255 PASS . . . . . 0.31 0.3 0.23 0.35 0.29 0.29 . MUC4:uc021xjp.1:exon2:c.C5025A:p.T1675T MUC4:NM_018406:exon2:c.C5025A:p.T1675T . . 0.3870403 . . @ 221 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 571.0 . . . . . . . . . . -0.8018 . . . . . . . . . . . . 0.1604 0.2564 0.2895 0.4161 0.2635 0.2521 0.3026 0.2714 0.1074 0.2548 0.2901 0.4008 0.3606 0.2214 0.3187 0.2717 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.2993 . . . 0.23 0.19 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs77396971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77396971 rs77396971 1 1538 10 1/0 0,177,215 +rs201194776 3 195513515 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195513515 195513515 Chr3(GRCh37):g.195513515C>T 4936 4936 NM_018406.6:c.4936G>A p.Ala1646Thr p.Ala1646Thr 2 158372 4854 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 rs201194776 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.001000 0.001400 0.000333 0.000976 0.000235 0.000000 0.001571 0.000054 0.000252 0.000297 0.000916 0.001571 42 11 4 0 6 1 13 4 3 126174 11272 17024 7246 3820 18426 51638 13472 3276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 11 4 0 6 1 13 4 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.619 A Ala GCC 0.403 T Thr ACC 0.361 1646 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Not scored 0.0 0.0 132 PASS . . . . . 0.0008 0.0006 0.0014 . 0.001 . . MUC4:uc021xjp.1:exon2:c.G4936A:p.A1646T MUC4:NM_018406:exon2:c.G4936A:p.A1646T . . 0.10220126 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.083 . @ . . . . . 1 0.180 . . 636.0 . . . . . . . . . . -1.8953 -2.007 -1.895 c . . . . . 3.105e-04 . . . 0.0031 0.0010 0.0026 0.0076 0 0.0009 0 0.0003 0.0022 0.0007 0.0032 0.0041 0 0.0009 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.090 0.0006 . . . 0.22 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.002 0.091 . . . . . . . Likely_benign . 0 . . . . . . T 0.011 0.001 . . 37 . 0.150 . . 0.224 . . . . 0.217 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.119 . . 0.013 . . . . . . 2 0.221 . . . . . 0.036 . 0.103 . LowAF . rs201194776 . . . . . . . . . . . . 2.184 0.002874 . 0.605 -1.21 . . E7ESK3 . . . . . 0.002 . . . 0.0011 0.0002 0.0002 0 0.0018 0 0.0002 0 5.427e-05 0.0009 0.0011 0.0026 0 0 0.0035 0.0007 0.0066 . . 0.372 . -2.601 -2.601000 . . . . . 1.0E-132 0.000 0.063 . 0.090 0.024 . 0.021 . 0.244 -2.601 0.542 . . . rs201194776 rs201194776 1 1538 10 1/0 0,148,245 +rs200981553 3 195513846 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195513846 195513846 Chr3(GRCh37):g.195513846C>G 4605 4605 NM_018406.6:c.4605G>C p.Met1535Ile p.Met1535Ile 2 158372 4523 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Weakly Activated 195513828 6.99087 0.676627 74.3952 7.36237 0.773903 74.3952 rs200981553 yes no Frequency 1 0.000000 0 0.001110 0.004219 0.001303 0.000649 0.001463 0.000650 0.001137 0.000589 0.000465 0.004219 94 14 15 3 8 8 38 7 1 84698 3318 11510 4620 5468 12312 33428 11892 2150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 94 14 15 3 8 8 38 7 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -2.297 M Met ATG 1.000 I Ile ATC 0.481 1535 12 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.46 III.72 212 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G4605C:p.M1535I MUC4:NM_018406:exon2:c.G4605C:p.M1535I . . 0.18831168 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.017 . . 308.0 . . . . . . . . . . -1.9591 -2.047 -1.959 c . . . . . 1.856e-04 . . . 0 0.0005 0 0 0 0.0017 0 0 0 0.0004 0 0 0 0.0021 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . . @ . . . 0.26 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.071 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.046 0.002 . . 37 . 0.111 . . 0.237 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.167 . . . . . 0.037 . 0.032 . HET . rs200981553 . . . . . . . . . . . . II.36 . . . . . . E7ESK3 . . . . . 0.002 . . . 0.0043 0.0009 0.0012 0.0007 0.0010 0.0003 0.0010 0.0005 0.0006 0.0041 0.0035 0.0089 0 0.0051 0.0039 0.0026 0 . . 0.283 . -1.916 -1.916000 . . . . . 1.0E-212 0.000 0.063 . 0.074 0.001 . 0.098 . 0.003 -1.916 -2.298 . . . rs200981553 rs200981553 1 1538 10 1/0 0,186,255 +rs200019432 3 195513847 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195513847 195513847 Chr3(GRCh37):g.195513847A>G 4604 4604 NM_018406.6:c.4604T>C p.Met1535Thr p.Met1535Thr 2 158372 4522 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 rs200019432 yes no Frequency 1 0.000000 0 0.001424 0.006371 0.001392 0.000654 0.002559 0.001383 0.001207 0.000254 0.002786 0.006371 120 21 16 3 14 17 40 3 6 84256 3296 11492 4590 5470 12290 33148 11816 2154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 21 16 3 14 17 40 3 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.974 M Met ATG 1.000 T Thr ACG 0.116 1535 12 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 353.86 0.00 Tolerated 0.83 III.72 225 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T4604C:p.M1535T MUC4:NM_018406:exon2:c.T4604C:p.M1535T . . 0.22627737 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.006 . . 274.0 . . . . . . . . . . -2.0198 -2.086 -2.020 c . . . . . . . . . 0.0034 0.0009 0 0 0 0.0014 0 0 0.0059 0.0009 0 0 0 0.0016 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . . @ . . . 0.26 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.093 0.004 . . 37 . 0.094 . . 0.279 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 2 0.056 . . . . . 0.124 . 0.029 . HET . rs200019432 . . . . . . . . . . . . IV.44 . . . . . . E7ESK3 . . . . . 0.001 . . . 0.0064 0.0013 0.0012 0.0007 0.0020 9.24e-05 0.0011 0.0031 0.0014 0.0062 0.0039 0.0091 0 0.0069 0.0020 0.0029 0 . . 0.283 . -1.995 -1.995000 . . . . . 1.0E-225 0.000 0.063 . 0.062 0.000 . 0.163 . 0.005 -1.995 -2.360 . . . rs200019432 rs200019432 1 1538 10 1/0 0,194,255 +rs200851738 3 195514470 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195514470 195514470 Chr3(GRCh37):g.195514470C>G 3981 3981 NM_018406.6:c.3981G>C p.Met1327Ile p.Met1327Ile 2 158372 3899 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Weakly Activated 195514452 6.99087 0.676627 74.3952 7.36237 0.773903 74.3952 rs200851738 yes no Frequency 1 0.000000 0 0.007862 0.021739 0.007980 0.006818 0.012543 0.007077 0.010244 0.000862 0.014286 0.021739 223 8 50 6 22 40 83 4 10 28364 368 6266 880 1754 5652 8102 4642 700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 8 50 6 22 40 83 4 10 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 -1.489 M Met ATG 1.000 I Ile ATC 0.481 1327 12 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.16 IV.32 212 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G3981C:p.M1327I MUC4:NM_018406:exon2:c.G3981C:p.M1327I . . 0.1908397 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.023 . . 131.0 . . . . . . . . . . -1.8162 -1.895 -1.816 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.278 . . exonic exonic exonic . . . @ . . . 0.24 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.048 0.002 . . 37 . 0.111 . . 0.237 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.112 . . 0.013 . . . . . . 2 0.096 . . . . . 0.035 . 0.026 . HET . rs200851738 . . . . . . . . . . . . 2.1349 . . . . . . E7ESK3 . . . . . 0.013 . . . 0.0233 0.0081 0.0080 0.0068 0.0129 0.0009 0.0107 0.0150 0.0071 0 0 0 . 0 0 0 0 . . 0.283 . -1.922 -1.922000 . . . . . 1.0E-212 0.000 0.063 . 0.104 0.008 . 0.035 . 0.003 -1.922 -2.395 . . . rs200851738 rs200851738 1 1538 10 1/0 0,222,255 +rs79746945 3 195514990 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195514990 195514990 Chr3(GRCh37):g.195514990T>G 3461 3461 NM_018406.6:c.3461A>C p.His1154Pro p.His1154Pro 2 158372 3379 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 rs79746945 yes no Frequency 1 0.000000 0 0.000561 0.002349 0.000444 0.000148 0.002396 0.000178 0.000569 0.000396 0.001187 0.002396 57 8 6 1 7 3 23 6 3 101540 3406 13514 6760 2922 16862 40412 15136 2528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 8 6 1 7 3 23 6 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.031 -1.812 H His CAT 0.413 P Pro CCT 0.283 1154 12 1 -2 -2 -4 0.58 0.39 10.IV 8 96 32.5 77 C0 353.86 0.00 Tolerated 0.58 IV.32 164 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A3461C:p.H1154P MUC4:NM_018406:exon2:c.A3461C:p.H1154P . . 0.104347825 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.015 . . 230.0 . . . . . . . . . . -1.9566 -2.048 -1.957 c . . . . . 5.979e-05 . . . 0 0.0001 0 0 0 0 0 0.0003 0 0.0001 0 0 0 0 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.307 . . exonic exonic exonic . . 0.094 @ . . . 0.2 0.12 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.055 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.149 . . 0.281 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.125 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 2 0.105 . . . . . 0.152 . 0.121 . LowAF . rs79746945 . . . . . . . . . . . . V.13 . . 0.534 -1.07 . . E7ESK3 . . . . . 0.007 . . . 0.0024 0.0004 0.0004 0.0001 0.0024 6.694e-05 0.0004 0.0008 0.0002 0.0022 0.0055 0.0091 0 0 0.0253 0.0048 0.0102 . . 0.283 . -1.690 -1.690000 . . . . . 1.0E-164 0.002 0.151 . 0.095 0.007 . 0.051 . 0.017 -1.690 -2.407 . . . rs79746945 rs79746945 1 1538 10 1/0 0,191,255 +rs747366842 3 195515052 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195515052 195515052 Chr3(GRCh37):g.195515052G>C 3399 3399 NM_018406.6:c.3399C>G p.His1133Gln p.His1133Gln 2 158372 3317 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Donor Strongly Activated 195515057 3.34011 0.32653 72.4027 7.19963 0.921257 85.0987 rs747366842 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000043 1 0 1 0 0 0 0 0 0 139888 7012 23418 7698 9824 21876 52556 13780 3724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 217 Exomes transversion C G C>G 0.000 -0.844 H His CAC 0.587 Q Gln CAG 0.744 1133 12 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.08 IV.32 190 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C3399G:p.H1133Q MUC4:NM_018406:exon2:c.C3399G:p.H1133Q . . 0.14921466 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.076 . . 382.0 . . . . . . . . . . -0.8694 -1.133 -0.869 c . . . . . 5.830e-05 . . . 0 0.0002 0 0 0 0.0005 0 0 0 7.062e-05 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.269 . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.212 . . 0.194 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.577 . . 0.615 . . . . . . 2 0.274 . . . . . 0.196 . 0.026 . LowAF . rs747366842 . . . . . . . . . . . . VI.74 . . 0.814 -1.63 . . E7ESK3 . . . . . 0.012 . . . 0 7.149e-06 4.27e-05 0 0 0 0 0 0 . . . . . . . . . . 0.372 . -1.056 -1.056000 . . . . . 1.0E-190 0.000 0.063 . 0.043 0.006 . 0.015 . 0.276 -1.056 0.345 . . . . . 1 1538 10 1/0 0,173,255 +rs544059785 3 195515123 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195515123 195515123 Chr3(GRCh37):g.195515123T>C 3328 3328 NM_018406.6:c.3328A>G p.Thr1110Ala p.Thr1110Ala 2 158372 3246 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Strongly Activated 195515113 3.83437 0.042343 71.1372 4.62327 0.104967 71.1372 rs544059785 yes no Frequency/1000G 2 0.000000 0 0.014976 0.006100 0.008200 0.006000 0.031800 0.030300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 109390 4646 15846 6892 3662 17460 43970 14054 2860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.328 T Thr ACT 0.243 A Ala GCT 0.263 1110 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.17 III.91 202 PASS . . . . . 0.0061 0.015 0.03 0.006 0.032 0.0082 . MUC4:uc021xjp.1:exon2:c.A3328G:p.T1110A MUC4:NM_018406:exon2:c.A3328G:p.T1110A . . 0.19661734 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.049 . . 473.0 . . . . . . . . . . -1.0157 -1.228 -1.016 c . . . . . 2.075e-03 . . . 0 0.0054 0.0063 0.0079 0 0.0066 0.0130 0.0049 0 0.0048 0.0085 0.0035 0 0.0069 0.0132 0.0049 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.330 . . exonic exonic exonic . . 0.079 0.0150 . . . 0.17 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.162 . . 0.165 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.096 . . 0 0 0 0 0 0 . 0.459 . . 0.394 . . . . . . 2 0.250 . . . . . 0.199 . 0.199 . HET . rs544059785 . . . . . . . . . . . . VI.59 0.010836 . 0.814 -1.63 . . E7ESK3 . . . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.283 . -0.801 -0.801000 . . . . . 1.0E-202 0.000 0.063 . 0.016 0.002 . 0.006 . 0.002 -0.801 -1.756 . . . . . 1 1538 14 1/0 0,169,255 +rs562482736 3 195515124 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195515124 195515124 Chr3(GRCh37):g.195515124G>A 3327 3327 NM_018406.6:c.3327C>T p.Asp1109= p.Asp1109Asp 2 158372 3245 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Strongly Activated 195515113 3.83437 0.042343 71.1372 V.17 0.093208 75.2391 rs562482736 yes no Frequency/1000G 2 0.000000 0 0.014976 0.006100 0.008200 0.006000 0.031800 0.030300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144300 7038 23580 8008 9872 22370 54392 15218 3822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 243 Exomes transition C T C>T 0.000 0.044 D Asp GAC 0.539 D Asp GAT 0.461 1109 201 PASS . . . . . 0.0061 0.015 0.03 0.006 0.032 0.0082 . MUC4:uc021xjp.1:exon2:c.C3327T:p.D1109D MUC4:NM_018406:exon2:c.C3327T:p.D1109D . . 0.1602434 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 493.0 . . . . . . . . . . -0.1403 . . . . . . . . 2.065e-03 . . . 0 0.0051 0.0057 0.0075 0 0.0064 0.0120 0.0048 0 0.0046 0.0079 0.0035 0 0.0067 0.0127 0.0049 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs562482736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +rs374418206 3 195515134 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195515134 195515134 Chr3(GRCh37):g.195515134G>T 3317 3317 NM_018406.6:c.3317C>A p.Pro1106His p.Pro1106His 2 158372 3235 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 rs374418206 no no 0 0.000000 0 0.000006 0.000076 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000076 1 1 0 0 0 0 0 0 0 154464 13146 22746 7826 8788 21398 60632 15900 4028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.031 0.932 P Pro CCT 0.283 H His CAT 0.413 1106 12 1 -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 353.86 0.00 Deleterious 0.03 III.91 188 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C3317A:p.P1106H MUC4:NM_018406:exon2:c.C3317A:p.P1106H . . 0.1802935 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.196 . . 477.0 . . . . . . . . . . -0.4241 -0.660 -0.424 c . . . . . . . . . 0 6.007e-05 0.0028 0 0 0 0 0 0 6.913e-05 0.0038 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.340 . . exonic exonic exonic . . 0.178 @ . . . 0.17 0.14 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.382 . . 0.224 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.764 . . 0.774 . . . . . . 2 0.291 . . . . . 0.271 . 0.171 . HET . rs374418206 . . . . . . . . . . . . VII.32 0.006472 . 0.814 0.814 . . E7ESK3 . . . . . 0.109 . . . 0 0 0 0 0 0 0 0 0 0.0002 5.697e-05 0 0 0 0 0 0 . . 0.372 . 0.776 0.776000 . . . . . 1.0E-188 0.013 0.187 . 0.083 0.003 . 0.381 . 0.276 0.776 0.345 . . . rs374418206 rs374418206 1 1538 10 1/0 0,167,255 +rs112836612 3 195538675 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195538675 195538675 Chr3(GRCh37):g.195538675C>T 14 14 NM_018406.6:c.14G>A p.Arg5His p.Arg5His 1 158372 -69 5' 100 X.83 0.997724 X.61 100 X.83 0.997724 10.364 0 rs112836612 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.003000 0.002900 0.003384 0.000917 0.000756 0.001382 0.000318 0.000487 0.005053 0.007729 0.002634 0.007729 934 22 26 14 6 15 635 199 17 276038 23996 34398 10128 18856 30780 125680 25746 6454 0.000051 0.000000 0.000058 0.000000 0.000000 0.000000 0.000080 0.000078 0.000000 7 0 1 0 0 0 5 1 0 920 22 24 14 6 15 625 197 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4402 12977 25 4 29 0.00290698 0.000907853 0.00222974 0.00290698 0.000907853 0.00222974 67 transition G A G>A 0.000 -1.651 R Arg CGC 0.190 H His CAC 0.587 5 12 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.19 IV.32 255 PASS . 0.0014 . . 0.004 . 0.0014 0.0029 . 0.003 0.002 . . . . . 0.4 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.128 . @ . . . . . 1 0.082 . . 45.0 . . . 0.0009 0.0022 0.0029 0.0009 0.0022 0.0029 . -1.6334 -1.724 -1.633 c . . . . . 3.339e-03 . . . 0.0014 0.0026 0.0008 0.0002 0.0098 0.0039 0.0072 0.0004 0.0016 0.0031 0.0006 0.0001 0.0090 0.0044 0.0074 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.390 . . exonic exonic exonic . . 0.011 0.0014 . . . 0.22 0.48 182 ENSG00000145113 MUC4 MUC4 . . . 1.000 0.473 . 181 0.00278564 64976 174 0.00290068 59986 Likely_benign . 0 . . . . . . T 0.242 0.009 . . 37 . 0.150 . . 0.305 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.237 . . 0.063 . . . . . . 0 0.912 . . . . . 0.367 . 0.078 . HET 0 rs112836612 0.011 0.007 . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 IX.66 0.00107 . III.87 -7.74 . 0.530000 . . . . 0.002230 . 0.012 . . . 0.0010 0.0032 0.0007 0.0013 0.0003 0.0079 0.0047 0.0018 0.0005 0.0007 0.0049 0.0012 0.0033 0 0.0069 0.0075 0.0071 . . 0.351 . -2.046 -2.046000 . . 0.530000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.027 . 0.013 -2.046 -0.008 0.011 . . rs112836612 rs112836612 1 1538 10 1/0 0,255,255 +rs112362099 3 195591020 T G - TNK2 19297 Tyrosine kinase, non-receptor, 2 NM_001010938.1 -1 4222 3261 NP_001010938.1 substitution 3'UTR GRCh37 195591020 195591020 Chr3(GRCh37):g.195591020T>G *32 *32 NM_001010938.1:c.*32A>C p.? p.? 15 606994 39 3' 83.3085 6.72389 0.967027 7.38287 83.3085 6.72389 0.967027 7.59498 0 Cryptic Acceptor Strongly Activated 195591017 0.000784 67.3109 2.70151 0.052097 77.2783 rs112362099 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.002000 0.000000 0.011900 0.005800 0.007730 0.001707 0.002676 0.003452 0.000000 0.001137 0.013826 0.006128 0.006834 0.013826 2123 41 92 35 0 35 1718 158 44 274652 24014 34384 10140 18850 30782 124260 25784 6438 0.000131 0.000000 0.000000 0.000000 0.000000 0.000065 0.000274 0.000000 0.000000 18 0 0 0 0 1 17 0 0 2087 41 92 35 0 33 1684 158 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8514 4403 12917 86 3 89 0.01 0.00068089 0.006843 0.01 0.00068089 0.006843 92 transversion A C A>C 0.976 2.465 255 PASS . 0.01 0.0028 . 0.01 . 0.0036 0.0058 . 0.012 0.002 . . . . . 0.47272727 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . 0.0007 0.0068 0.01 0.0007 0.0068 0.01 . I.34 . . . . . . . . 8.579e-03 . . . 0.0020 0.0060 0.0027 0 0.0074 0.0105 0.0085 0.0007 0.0021 0.0085 0.0028 0 0.0070 0.0145 0.0072 0.0007 . . . . . . UTR3 UTR3 UTR3 . . . 0.0036 . . . 0.63 0.75 182 ENSG00000061938 TNK2 TNK2 . . . . . . 601 0.00924957 64976 583 0.00971893 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112362099 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006843 . . . . IV.93 0.0016 0.0077 0.0026 0.0035 0 0.0063 0.0139 0.0064 0.0011 0.0020 0.0080 0.0072 0.0033 0 0.0052 0.0132 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs112362099 rs112362099 1 1538 10 1/0 0,251,255 +rs139593489 3 195692482 G A - SDHAP1 32455 Succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NR_003264.2 -1 2491 0 substitution intron GRCh37 195692482 195692482 Chr3(GRCh37):g.195692482G>A 2090-69 2090-69 NR_003264.2:n.2090-69C>T p.? p.? 15 14 -69 3' 82.2154 6.70128 0.573555 4.32282 82.2154 6.70128 0.573555 4.74548 0 rs139593489 yes no Frequency/1000G 2 0.000000 0 0.000476 0.000118 0.001292 0.000000 0.000702 0.000000 0.000493 0.001206 0.000000 0.001292 14 1 1 0 1 0 7 4 0 29396 8450 774 288 1424 0 14210 3316 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 1 0 1 0 7 4 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.000 -0.037 210 PASS 0.06 0.07 0.08 0.07 0.06 . . . . . . . . . . . 0.18604651 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||SDHAP1|Non-coding_transcript|NON_CODING|NR_003264|) . . . . . . . -0.3900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.37 0.08 182 ENSG00000185485 SDHAP1 SDHAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139593489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0005 0.0013 0 0.0007 0.0012 0.0005 0 . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . 0.08 . . rs139593489 rs139593489 1 1538 10 1/0 0,241,255 +rs2448507 3 195702515 A G - SDHAP1 32455 Succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NR_003264.2 -1 2491 0 substitution intron GRCh37 195702515 195702515 Chr3(GRCh37):g.195702515A>G 1387+61 1387+61 NR_003264.2:n.1387+61T>C p.? p.? 9 9 61 5' 78.2261 5.99281 0.049767 6.86301 78.2261 5.99281 0.049767 6.53374 0 rs2448507 no no 0 0.000000 0 0.006949 0.006369 0.006983 0.012000 0.004895 0.000000 0.006033 0.011628 0.012225 0.012000 181 45 5 3 7 0 78 33 10 26046 7066 716 250 1430 0 12928 2838 818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 181 45 5 3 7 0 78 33 10 0 0 0 0 0 0 0 0 0 RF 73 Genomes transition T C T>C 0.000 -0.924 177 PASS . . . . . . . . . . . . . . . . 0.10599078 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 217.0 . . INTRON(MODIFIER||||SDHAP1|Non-coding_transcript|NON_CODING|NR_003264|) . . . . . . . -0.5898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.37 0.09 182 ENSG00000185485 . SDHAP1 . dist\x3d7654\x3bdist\x3d73640 . . . . 878 0.0135127 64976 873 0.0145534 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2448507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0064 0.0069 0.0070 0.012 0.0049 0.0116 0.0060 0.0122 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs2448507 rs2448507 rs2448507 rs2448507 1 1538 10 1/0 0,193,255 +rs61738471 3 196381434 C T - NRROS 24613 Negative regulator of reactive oxygen species NM_198565.2 1 2554 2079 NP_940967.1 Q86YC3 substitution synonymous exon GRCh37 196381434 196381434 Chr3(GRCh37):g.196381434C>T 24 24 NM_198565.2:c.24C>T p.Leu8= p.Leu8Leu 2 615322 37 3' 87.3558 14.1568 0.971519 13.0276 87.3558 14.1568 0.971519 XII.47 0 rs61738471 yes no Frequency/1000G 2 C 0.000000 0 0.012180 0.000000 0.059300 0.000000 0.000000 0.004300 0.007892 0.000125 0.002644 0.011823 0.000265 0.052924 0.002289 0.000039 0.007580 0.052924 2188 3 91 120 5 1629 290 1 49 277230 24038 34418 10150 18870 30780 126718 25792 6464 0.000519 0.000000 0.000000 0.000394 0.000000 0.004418 0.000016 0.000000 0.000309 72 0 0 2 0 68 1 0 1 2044 3 91 116 5 1493 288 1 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4404 12979 25 2 27 0.00290698 0.000453926 0.00207596 0.00290698 0.000453926 0.00207596 121 transition C T C>T 0.992 -0.037 L Leu CTC 0.197 L Leu CTT 0.129 8 255 PASS . 0.0009 0.01 . . . 0.012 0.0043 . . 0.059 ENSG00000174004:ENST00000328557:exon2:c.C24T:p.L8L LRRC33:uc003fwv.3:exon2:c.C24T:p.L8L NRROS:NM_198565:exon2:c.C24T:p.L8L . . 0.56962025 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L8|NRROS|mRNA|CODING|NM_198565|NM_198565.ex.2) 0.0005 0.0021 0.0029 0.0005 0.0021 0.0029 . I.73 . . . . . . . . 8.982e-03 . . . 0.0003 0.0120 0.0023 0.0004 0 0.0040 0.0084 0.0534 0.0003 0.0102 0.0022 0.0003 0 0.0031 0.0058 0.0536 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0122 . . . 0.43 0.55 182 ENSG00000174004 LRRC33 NRROS . . . . . . 209 0.00321657 64976 148 0.00246724 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61738471 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.002076 . . . . . 0.0001 0.0087 0.0026 0.0120 0.0002 4.484e-05 0.0024 0.0078 0.0529 0.0001 0.0013 0.0036 0.0066 0.0006 0 0.0017 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61738471 rs61738471 rs61738471 rs61738471 1 1538 10 1/0 0,255,255 +rs35430440 3 196807928 A C - DLG1 2900 Discs, large homolog 1 (Drosophila) NM_004087.2 -1 5034 2781 NP_004078.2 substitution missense exon GRCh37 196807928 196807928 Chr3(GRCh37):g.196807928A>C 1998 1998 NM_004087.2:c.1998T>G p.Asp666Glu p.Asp666Glu 18 601014 -7 5' 83.6222 7.93332 0.994398 0.962488 83.6222 7.93332 0.992181 1.29821 -0.000743163 Membrane-associated guanylate kinase (MAGUK) scaffold protein rs35430440 yes no Frequency/1000G 2 A 0.000000 0 0.005591 0.000000 0.000000 0.000000 0.019900 0.011500 0.007259 0.001709 0.007182 0.003156 0.000000 0.000914 0.011740 0.004539 0.009161 0.011740 2007 41 246 32 0 28 1484 117 59 276494 23996 34254 10140 18838 30640 126410 25776 6440 0.000109 0.000000 0.000058 0.000000 0.000000 0.000000 0.000206 0.000000 0.000311 15 0 1 0 0 0 13 0 1 1977 41 244 32 0 28 1458 117 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8479 4391 12870 115 15 130 0.0133814 0.00340445 0.01 0.0133814 0.00340445 0.01 114 transversion T G T>G 0.992 0.125 D Asp GAT 0.461 E Glu GAG 0.583 666 12 9 Frog 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 168.08 0.00 Tolerated 0.65 IV.32 good 6.08E-1 0.2254 255 PASS . 0.01 0.02 . 0.02 . 0.0056 0.011 . 0.02 . . . . . . 0.44444445 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.354 . . 63.0 . . . 0.0034 0.01 0.013 0.0034 0.01 0.013 . -0.6979 -0.497 -0.698 c . . . . . 7.105e-03 . . . 0.0022 0.0073 0.0068 0 0.0048 0.0126 0.0057 0.0009 0.0021 0.0069 0.0069 0 0.0056 0.0108 0.0044 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.822 . . exonic exonic exonic . . 0.290 0.0056 . . . 0.71 0.55 182 ENSG00000075711 DLG1 DLG1 . . . 0.129 0.171 . 816 0.0125585 64976 788 0.0131364 59986 Uncertain_significance . 0 . 0.380 . . . . . . . . . 37 . 0.415 . . 0.477 . . . 0.023 0.402 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 0 0.313 . . . . . 0.129 . 0.010 . HET 0.09 rs35430440 . 0.007 . . . . . 0.01098901098901099 0.0 0.016574585635359115 0.0 0.023746701846965697 IV.07 0.00428 . IV.89 II.47 . 0.970000 . . . . 0.010000 . 0.299 . . II.47 0.0016 0.0074 0.0072 0.0030 0 0.0046 0.0119 0.0095 0.0009 0.0018 0.0065 0.0072 0.0066 0 0.0040 0.0103 0.0072 . . 0.924 . 0.308 0.308000 . . 0.970000 . . 1.0E-255 0.976 0.346 . 0.750 1.000 . 0.159 . 0.243 0.308 1.062 0.02 rs35430440 rs35430440 rs35430440 rs35430440 1 1538 10 1/0 0,255,255 +rs573437812 3 197410024 G A - RUBCN 28991 RUN and cysteine rich domain containing beclin 1 interacting protein NM_001346873.1 -1 9394 3036 NP_001333802.1 substitution intron GRCh37 197410024 197410024 Chr3(GRCh37):g.197410024G>A 2097+154 2097+154 NM_001346873.1:c.2097+154C>T p.? p.? 15 15 613516 154 5' 89.6127 X.54 0.995257 XI.06 89.6127 X.54 0.995257 XI.06 0 rs573437812 yes no Frequency 1 G 0.000000 0 0.001291 0.000572 0.001193 0.000000 0.000000 0.000000 0.002132 0.000286 0.001018 0.002132 40 5 1 0 0 0 32 1 1 30976 8736 838 302 1620 0 15006 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 5 1 0 0 0 32 1 1 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.4888889 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.1282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000145016 KIAA0226 RUBCN . . . . . . 108 0.00166215 64976 108 0.00180042 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs573437812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0013 0.0012 0 0 0.0003 0.0021 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs11185496 (chr3:197846702 C/T) 3 197846702 C T Not on a known gene +rs181045496 3 197896656 G A - FAM157A 34079 Family with sequence similarity 157 member A (non-protein coding) NR_146164.1 1 6879 0 substitution intron GRCh37 197896656 197896656 Chr3(GRCh37):g.197896656G>A 929+1914 929+1914 NR_146164.1:n.929+1914G>A p.? p.? 4 4 1914 5' 82.9985 9.27414 0.987439 5.55525 82.9985 9.27414 0.987439 5.55525 0 rs181045496 yes no Frequency 1 0.000000 0 0.001452 0.014081 0.000420 0.000119 0.000174 0.000506 0.000518 0.000055 0.000444 0.014081 242 181 10 1 2 11 34 1 2 166612 12854 23810 8386 11496 21722 65610 18232 4502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242 181 10 1 2 11 34 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.924 198 PASS . . . . . . . . . . . . FAM157A:uc011bup.1:exon6:c.G1085A:p.G362D FAM157A:NM_001145248:exon6:c.G1085A:p.G362D . . 0.15686275 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gAt|G362D|FAM157A|mRNA|CODING|NM_001145248|NM_001145248.ex.6) . . . . . . . -1.7135 . . . . . . . . 5.202e-04 . . . 0.0042 0.0005 0 0 0 0 0 0 0.0027 0.0003 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.36 0.26 182 ENSG00000236438 FAM157A FAM157A . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs181045496 . . . . . . . . . . . . . . ENST00000431569 0.453 0.453 . . C9JC47 0.0001 0.008 . . . . . . . 0.0016 0.0003 0.0003 0.0001 0.0002 0 5.654e-05 0 0.0005 0.0278 0.0081 0.0026 0 0 0.0003 0.0025 0.0024 . . . . -0.882 -0.882000 . . . . . 1.0E-198 . . . . . . . . . -0.882 . . . . rs181045496 rs181045496 1 1538 10 1/0 0,255,255 +. 3 197945941 T C - FAM157A 34079 Family with sequence similarity 157 member A (non-protein coding) NR_146164.1 1 6879 0 substitution exon GRCh37 197945941 197945941 Chr3(GRCh37):g.197945941T>C 3436 3436 NR_146164.1:n.3436T>C 18 596 3' 81.3722 4.00422 0.702295 0 81.3722 4.00422 0.702295 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.827 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 28.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic ncRNA_intronic intergenic . . . @ . . . 0.59 0.29 182 . AL137655 . dist\x3d20055\x3bdist\x3d4427 . dist\x3d38213\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62102974 rs62102974 rs62102974 rs62102974 1 1538 10 1/0 0,255,255 +rs17857098 4 86035 C T - ZNF718 26889 Zinc finger protein 718 NM_001289931.1 1 3593 1341 NP_001276860.1 substitution intron GRCh37 86035 86035 Chr4(GRCh37):g.86035C>T 130+25989 130+25989 NM_001289931.1:c.130+25989C>T p.? p.? 3 3 25989 5' 89.9194 X.02 0.970406 6.43868 89.9194 X.02 0.970406 6.43868 0 transition C T C>T 0.024 -1.005 111 PASS . . . . . . . . . . . . . UNKNOWN . . 1.0 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 8.0 . . . . . . . . . . -0.5099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . ncRNA_exonic UTR5 exonic . . . @ . . . 0.45 0.17 182 ENSG00000255436 ZNF595 ZNF595 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . rs17857098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs113246945 4 651287 C T - PDE6B 8786 Phosphodiesterase 6B NM_000283.3 1 3403 2565 NP_000274.2 P35913 substitution splice site GRCh37 651287 651287 Chr4(GRCh37):g.651287C>T 1401+4 1401+4 NM_000283.3:c.1401+4C>T p.? p.? 10 10 180072 4 5' 71.3225 VI.47 0.5474 7.38472 71.9341 3.12146 0.224147 4.65619 -0.366864 Cryptic Acceptor Strongly Activated 651298 2.26137 0.002287 64.2521 3.27007 0.003372 68.354 rs113246945 yes no Frequency/1000G 2 benign 0.000000 0 0.015974 0.000800 0.005100 0.000000 0.056700 0.024500 0.000284 0.000167 0.000058 0.000000 0.000000 0.000000 0.000512 0.000195 0.000468 0.000512 78 4 2 0 0 0 64 5 3 274996 23928 34350 10116 18858 30758 124886 25692 6408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 78 4 2 0 0 0 64 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8089 4353 12442 511 53 564 0.0594186 0.0120291 0.0433646 0.0594186 0.0120291 0.0433646 96 RCV000153665.3 germline clinical testing Benign 1 not specified transition C T C>T 0.756 1.255 255 PASS . 0.01 0.02 . 0.03 0.0008 0.016 0.025 . 0.057 0.0051 . . . . . 0.5217391 . . germline 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000153665.3 not_specified MedGen CN169374 2 . . . 69.0 . . . 0.012 0.043 0.059 0.012 0.043 0.059 . 0.7522 . . . . . . . . 3.360e-05 . . . 0 3.539e-05 0 0 0.0003 5.325e-05 0 0 0 4.003e-05 0 0 0.0002 6.066e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0160 . . . 0.28 0.32 182 ENSG00000133256 PDE6B PDE6B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113246945 . . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000153665.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000153665.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . 0.0227 0.224 . 0.043365 . . . . 2.I 6.558e-05 9.007e-05 5.967e-05 0 0 9.003e-05 0.0001 0.0002 0 0.0003 0.0018 0 0 0 0.0009 0.0032 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.059 . . rs113246945 rs113246945 1 1538 10 1/0 0,255,255 +. 4 1073461 T C - RNF212 27729 Ring finger protein 212 NM_001131034.3 -1 2390 894 NP_001124506.1 Q495C1 substitution synonymous exon GRCh37 1073461 1073461 Chr4(GRCh37):g.1073461T>C 480 480 NM_001131034.3:c.480A>G p.Glu160= p.Glu160Glu 8 612041 16 3' 82.2031 8.15609 0.634725 3.52513 82.2031 8.15609 0.662675 3.52653 0.0146783 Cryptic Donor Strongly Activated 1073461 0.000687 52.7015 1.51603 0.030388 64.8375 rs892869552 no no 0 T 0.000000 0 transition A G A>G 0.512 -2.135 E Glu GAA 0.417 E Glu GAG 0.583 160 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.4067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000178222 RNF212 RNF212 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs116258373 4 1303550 C T - MAEA 13731 Macrophage erythroblast attacher NM_001017405.2 1 2233 1191 NP_001017405.1 Q7L5Y9 substitution intron GRCh37 1303550 1303550 Chr4(GRCh37):g.1303550C>T 70-2217 70-2217 NM_001017405.2:c.70-2217C>T p.? p.? 2 1 606801 -2217 3' 91.8398 XII.38 0.98973 17.8812 91.8398 XII.38 0.98973 17.8812 0 Cryptic Donor Strongly Activated 1303548 64.3745 6.46084 0.661415 73.2866 rs116258373 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000000 0.000000 0.000000 0.008000 0.008600 0.006860 0.001548 0.002304 0.006966 0.000000 0.001236 0.013961 0.006830 0.006543 0.013961 861 22 47 36 0 21 663 48 24 125508 14214 20400 5168 10554 16986 47490 7028 3668 0.000080 0.000000 0.000098 0.000000 0.000000 0.000000 0.000168 0.000000 0.000000 5 0 1 0 0 0 4 0 0 851 22 45 36 0 21 655 48 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.167 111 PASS . 0.0023 0.01 . 0.004 . 0.0028 0.0086 . 0.008 . . . . . . 1.0 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.3929 . . . . . . . . 2.171e-03 . . . 0 0.0031 0 0 0 0.01 0 0.0012 0 0.0029 0 0 0 0.0093 0 0.0012 . . . . . . intronic intronic intronic . . . 0.0028 . . . 0.41 0.25 182 ENSG00000090316 MAEA MAEA . . . . . . 606 0.00932652 64976 592 0.00986897 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs116258373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0062 0.0022 0.0070 0 0.0079 0.0134 0.0056 0.0012 0.0018 0.0090 0.0036 0.0066 0 0.0057 0.0152 0.0092 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.01 . . rs116258373 rs116258373 1 1538 255 1.I 0,0,255 +rs74377230 4 1388324 A C - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution missense exon GRCh37 1388324 1388324 Chr4(GRCh37):g.1388324A>C 25 25 NM_175918.3:c.25A>C p.Asn9His p.Asn9His 1 610203 rs74377230 yes no Frequency 1 A 0.000000 0 COSM1427134|COSM1427134|COSM1427134|COSM1427134|COSM1427134 Upper aerodigestive tract|Liver|Large intestine|Central nervous system|Breast 0.004013|0.000844|0.000448|0.000416|0.000408 1246|2371|2231|2405|2453 transversion A C A>C 0.031 -1.732 N Asn AAT 0.464 H His CAT 0.413 9 4 1 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 244.67 I.62 Tolerated 0.19 IV.32 good 8.169E-1 0.08865 212 PASS . . . . . . . . . . . ENSG00000179979:ENST00000324803:exon1:c.A25C:p.N9H CRIPAK:uc003gdf.2:exon1:c.A25C:p.N9H CRIPAK:NM_175918:exon1:c.A25C:p.N9H . . 0.18947369 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.004 . . 285.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Cat|N9H|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -1.7409 -1.815 -1.741 c . . . . . . . . . . . . . . . . . 0 1.152e-05 0 0.0001 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . . @ . . . 0.24 0.11 182 ENSG00000179979 CRIPAK CRIPAK . . . 0.001 0.080 . 149 0.00229315 64976 149 0.00248391 59986 Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.101 . . 0.211 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.166 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.912 . . . . . . . 0.140 . HET 0.41 rs74377230 . . . . . . . . . . . . . 0.005083 . . . . 0.090000 Q8N1N5 . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.495 . -1.644 -1.644000 . . 0.090000 . . 1.0E-212 0.001 0.137 . 0.043 0.074 . 0.014 . 0.007 -1.644 -2.067 . . . rs74377230 rs74377230 1 1538 10 1/0 0,189,255 +rs77782813 4 1388350 G A - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution synonymous exon GRCh37 1388350 1388350 Chr4(GRCh37):g.1388350G>A 51 51 NM_175918.3:c.51G>A p.Thr17= p.Thr17Thr 1 610203 rs77782813 yes no Frequency/1000G 2 0.000000 0 5669 3175 8844 2931 1231 4162 0.340814 0.279392 0.320006 0.340814 0.279392 0.320006 150 COSM3774130|COSM3774130|COSM3774130 Lung|Liver|Kidney 0.002093|0.000422|0.000572 2389|2371|1749 transition G A G>A 0.063 -0.844 T Thr ACG 0.116 T Thr ACA 0.280 17 241 PASS 0.19 0.14 0.12 0.04 0.2 . . . . . . ENSG00000179979:ENST00000324803:exon1:c.G51A:p.T17T CRIPAK:uc003gdf.2:exon1:c.G51A:p.T17T CRIPAK:NM_175918:exon1:c.G51A:p.T17T . . 0.27436823 . . @ 76 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 277.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T17|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) 0.28 0.32 0.34 0.28 0.32 0.34 . -0.3398 . . . . . . . . . . . . 0.0043 0.0042 0.0006 0 0.0126 0.0080 0.0077 0.0011 0.0047 0.0042 0.0007 0.0001 0.0078 0.0083 0.0052 0.0011 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.09 182 ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77782813 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.320006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . 0.34 . . rs77782813 rs77782813 1 1538 10 1/0 0,198,248 +. 4 1388375 T TCA - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 duplication frameshift exon GRCh37 1388377 1388378 Chr4(GRCh37):g.1388376_1388377dup 77 78 NM_175918.3:c.77_78dup p.Cys27Hisfs*164 p.Cys27Hisfs*164 1 610203 rs533172496 yes no Frequency/1000G 2 0.156150 CA 782 0.156150 0.195200 0.171800 0.027800 0.228600 0.141200 0.000056 0.000000 0.000000 0.000000 0.000000 0.000000 0.000126 0.000000 0.000000 0.000126 11 0 0 0 0 0 11 0 0 195916 13984 25644 7924 17810 24938 87012 14232 4372 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5445881|COSM1427135|COSM1427135|COSM1427135|COSM1427135 Thyroid|Skin|Oesophagus|Central nervous system|Breast 0.004016|0.000812|0.000712|0.000832|0.000815 747|1232|1405|2405|2453 CA 255 Pass . . . . . 0.2 0.16 0.14 0.028 0.23 0.17 ENSG00000179979:ENST00000324803:exon1:c.76_77insCA:p.S26fs CRIPAK:uc003gdf.2:exon1:c.76_77insCA:p.S26fs CRIPAK:NM_175918:exon1:c.76_77insCA:p.S26fs . . 0.34951457 . . . 108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 309 . . FRAME_SHIFT(HIGH||||CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . . . . . . . . . . 8.015e-05 . . . 0.0003 0.0001 0 0 0 0.0002 0 0.0002 0.0003 0.0001 0 0 0 0.0001 0 0.0002 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs533172496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.08e-05 0 0 0 0 2.418e-05 0 0 0 0.0008 0 0 0 0 0.0021 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +rs55884223 4 1388378 T C - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution missense exon GRCh37 1388378 1388378 Chr4(GRCh37):g.1388378T>C 79 79 NM_175918.3:c.79T>C p.Cys27Arg p.Cys27Arg 1 610203 rs55884223 yes no Frequency/1000G 2 0.000000 0 0.156150 0.195200 0.171800 0.027800 0.228600 0.141200 0.000273 0.000822 0.000271 0.000000 0.000099 0.000060 0.000188 0.000667 0.001131 0.000822 35 8 4 0 1 1 11 7 3 128392 9732 14758 5602 10132 16530 58486 10500 2652 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 8 4 0 1 1 11 7 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4596372|COSM4596372|COSM4596372 Upper aerodigestive tract|Liver|Haematopoietic and lymphoid tissue 0.004815|0.000422|0.000567 1246|2371|3530 transition T C T>C 0.689 -0.521 C Cys TGT 0.448 R Arg CGT 0.082 27 4 2 Chimp -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 159.42 73.27 Tolerated 0.16 III.55 bad 8.732E-6 0.0225 255 PASS . . . . . 0.2 0.16 0.14 0.028 0.23 0.17 ENSG00000179979:ENST00000324803:exon1:c.T79C:p.C27R CRIPAK:uc003gdf.2:exon1:c.T79C:p.C27R CRIPAK:NM_175918:exon1:c.T79C:p.C27R . . 0.48341233 . . @ 102 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.008 . . 211.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C27R|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -1.4711 -1.565 -1.471 c . . . . . 9.273e-05 . . . 0.0004 0.0002 0 0 0 0.0002 0 0.0002 0.0005 0.0002 0 0 0 0.0002 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.078 0.1562 . . . 0.24 0.1 182 ENSG00000179979 CRIPAK CRIPAK . . . 0.000 0.056 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.086 . . 0.403 . . . 0.033 0.336 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.200 . . 0.112 . . . . . . 0 0.137 . . . . . 0.034 . 0.289 . HET 0.54 rs55884223 . . . . . . . . . . . . 2.0645 . . 0.824 -1.65 . 0.730000 Q8N1N5 . . . . . 0.037 . . . 0.0004 0.0001 0.0003 0 0.0001 0 3.612e-05 0.0008 6.05e-05 0.0022 0.0028 0 0 0 0.0122 0.0029 0.0046 . . 0.495 . -0.973 -0.973000 . . 0.730000 . . 1.0E-255 0.015 0.189 . 0.062 0.094 . 0.015 . 0.003 -0.973 0.000 . rs55884223 rs55884223 rs55884223 rs55884223 1 1538 10 1/0 0,226,243 +rs56109734 4 1388379 G A - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution missense exon GRCh37 1388379 1388379 Chr4(GRCh37):g.1388379G>A 80 80 NM_175918.3:c.80G>A p.Cys27Tyr p.Cys27Tyr 1 610203 rs56109734 yes no Frequency/1000G 2 0.000000 0 0.120208 0.130100 0.143100 0.020800 0.189900 0.112400 0.000441 0.000000 0.000047 0.000000 0.000000 0.000000 0.000906 0.000608 0.000589 0.000906 69 0 1 0 0 0 59 7 2 156620 12156 21106 6244 17018 20102 65094 11506 3394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 0 1 0 0 0 59 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM447394|COSM447394|COSM447394 Upper aerodigestive tract|Haematopoietic and lymphoid tissue|Central nervous system 0.004013|0.000283|0.000832 1246|3530|2405 transition G A G>A 0.831 1.497 C Cys TGT 0.448 Y Tyr TAT 0.438 27 4 2 Chimp -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 159.42 90.06 Tolerated 0.14 III.55 good 8.413E-2 0.0225 255 PASS . . . . . 0.13 0.12 0.11 0.021 0.19 0.14 ENSG00000179979:ENST00000324803:exon1:c.G80A:p.C27Y CRIPAK:uc003gdf.2:exon1:c.G80A:p.C27Y CRIPAK:NM_175918:exon1:c.G80A:p.C27Y . . 0.38356164 . . @ 84 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.088 . @ . . . . . 1 0.033 . . 219.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C27Y|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -0.9103 -1.085 -0.910 c . . . . . 1.607e-04 . . . 0 0.0002 0 0 0.0008 0.0005 0 0 0 0.0002 0 0 0.0004 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.255 . . exonic exonic exonic . . 0.127 0.1202 . . . 0.22 0.13 182 ENSG00000179979 CRIPAK CRIPAK . . . 0.000 0.069 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.100 . . 0.214 . . . 0.065 0.228 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.468 . . 0.382 . . . . . . 0 0.298 . . . . . 0.131 . 0.284 . HET 0.17 rs56109734 . . . . . . . . . . . . IV.18 . . 0.824 -0.152 . 0.400000 Q8N1N5 . . . . . 0.089 . . . 0 0.0004 4.812e-05 0 0 0.0006 0.0008 0.0006 0 0 0.0009 0 0 0 0.0011 0.0020 0 . . 0.495 . -0.063 -0.063000 . . 0.400000 . . 1.0E-255 0.158 0.235 . 0.074 0.095 . 0.313 . 0.255 -0.063 0.000 . rs56109734 rs56109734 rs56109734 rs56109734 1 1538 10 1/0 0,218,253 +rs74511366 4 1388848 A G - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution synonymous exon GRCh37 1388848 1388848 Chr4(GRCh37):g.1388848A>G 549 549 NM_175918.3:c.549A>G p.Pro183= p.Pro183Pro 1 610203 Post-SET domain rs74511366 yes no Frequency/1000G 2 0.000000 0 0.008986 0.003000 0.014300 0.000000 0.010900 0.023100 0.001250 0.000904 0.003041 0.002685 0.000202 0.000250 0.001282 0.000292 0.003270 0.003041 189 9 50 17 2 5 92 4 10 151170 9960 16440 6332 9886 19988 71786 13720 3058 0.000913 0.000402 0.002311 0.001895 0.000000 0.000100 0.001031 0.000146 0.001962 69 2 19 6 0 1 37 1 3 51 5 12 5 2 3 18 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7704 4351 12055 196 13 209 0.0248101 0.00297892 0.0170417 0.0248101 0.00297892 0.0170417 176 transition A G A>G 0.000 -1.570 P Pro CCA 0.274 P Pro CCG 0.115 183 111 PASS . . . . . 0.003 0.009 0.023 . 0.011 0.014 ENSG00000179979:ENST00000324803:exon1:c.A549G:p.P183P CRIPAK:uc003gdf.2:exon1:c.A549G:p.P183P CRIPAK:NM_175918:exon1:c.A549G:p.P183P . . 1.0 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 5.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P183|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) 0.003 0.017 0.025 0.003 0.017 0.025 . -0.8896 . . . . . . . . . . . . 0.0007 0.0003 0 0 0 0.0004 0 0.0002 0.0002 0.0001 0 0.0001 0 9.311e-05 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0224 . . . 0.17 0.15 182 ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74511366 . . . . . . . . . . . . . . . . . . . . . . . 0.017042 . . . . . 0.0007 0.0012 0.0030 0.0027 0.0001 0.0002 0.0013 0.0034 0.0003 0.0028 0.0017 0.0109 0 0.0029 0.0034 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.025 . . rs74511366 rs74511366 1 1538 255 1.I 0,0,255 +rs148639884 4 1388904 C T - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution missense exon GRCh37 1388904 1388904 Chr4(GRCh37):g.1388904C>T 605 605 NM_175918.3:c.605C>T p.Thr202Met p.Thr202Met 1 610203 Post-SET domain rs148639884 yes no Frequency/1000G 2 0.000000 0 0.013978 0.014400 0.009200 0.001000 0.033800 0.010100 0.000812 0.008386 0.000202 0.000000 0.000000 0.000211 0.000010 0.000052 0.000000 0.008386 188 174 6 0 0 6 1 1 0 231486 20750 29702 8604 18588 28448 100888 19314 5192 0.000199 0.001928 0.000135 0.000000 0.000000 0.000070 0.000000 0.000000 0.000000 23 20 2 0 0 1 0 0 0 142 134 2 0 0 4 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7666 4289 11955 6 51 57 0.000782065 0.0117512 0.00474525 0.000782065 0.0117512 0.00474525 207 COSM1051341 Endometrium 0.001524 656 transition C T C>T 0.087 0.528 T Thr ACG 0.116 M Met ATG 1.000 202 4 2 Chimp -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 215.31 58.08 Tolerated 0.07 III.72 bad 5.516E-4 0.0003878 255 PASS 0.03 0.01 0.01 . 0.01 0.014 0.014 0.01 0.001 0.034 0.0092 ENSG00000179979:ENST00000324803:exon1:c.C605T:p.T202M CRIPAK:uc003gdf.2:exon1:c.C605T:p.T202M CRIPAK:NM_175918:exon1:c.C605T:p.T202M . . 0.875 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.043 . . 8.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T202M|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) 0.012 0.0047 0.0008 0.012 0.0047 0.0008 . -0.8363 -0.989 -0.836 c . . . . . 9.890e-04 . . . 0.0108 0.0014 0 0 0 5.673e-05 0 0.0003 0.0107 0.0011 0 0 0 4.271e-05 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.207 . . exonic exonic exonic . . 0.179 0.0140 . . . 0.19 0.14 182 ENSG00000179979 CRIPAK CRIPAK . . . 0.000 0.053 . 18 0.000277025 64976 0 0 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.020 . . 0.261 . . . 0.065 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.063 . . 0 0 0 0 0 0 . 0.446 . . 0.265 . . . . . . 0 0.419 . . . . . 0.062 . 0.112 . HOM 0 rs148639884 . . . . . . ID\x3dCOSM1051341\x3bOCCURENCE\x3d1(endometrium) 0.010531135531135532 0.028455284552845527 0.0055248618784530384 0.0 0.009234828496042216 III.39 0.012486 ENST00000324803 0.83 0.83 . 0.020000 Q8N1N5 . . . 0.004745 . 0.021 . . . 0.0096 0.0007 0.0002 0 0 0 1.063e-05 0 0.0002 0.0054 0.0020 0.0022 0 0 0.0006 0 0 . . 0.450 . 0.770 0.770000 . . 0.020000 . . 1.0E-255 0.039 0.207 . 0.167 0.013 . 0.212 . 0.012 0.770 -1.906 0.03 . . rs148639884 rs148639884 1 1538 10 1.I 0,0,0 +. 4 1388922 CT C - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 deletion frameshift exon GRCh37 1388923 1388923 Chr4(GRCh37):g.1388923del 624 624 NM_175918.3:c.624del p.Ala209Profs*220 p.Ala209Profs*220 1 610203 Post-SET domain rs553511535 yes no Frequency/1000G 2 0.000000 0 0.022764 0.006100 0.024500 0.003000 0.049700 0.041800 T 255 Pass . . . . . 0.0061 0.023 0.042 0.003 0.05 0.025 ENSG00000179979:ENST00000324803:exon1:c.624delT:p.P208fs CRIPAK:uc003gdf.2:exon1:c.624delT:p.P208fs CRIPAK:NM_175918:exon1:c.624delT:p.P208fs . . 0.73333335 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 15 . . FRAME_SHIFT(HIGH||||CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs553511535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,57,255 +. 4 1388930 T TCA - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 duplication frameshift exon GRCh37 1388935 1388936 Chr4(GRCh37):g.1388934_1388935dup 635 636 NM_175918.3:c.635_636dup p.Val213Thrfs*217 p.Val213Thrfs*217 1 610203 Post-SET domain rs530801181 yes no Frequency/1000G 2 0.025958 CA 130 0.025959 0.009100 0.025600 0.003000 0.058600 0.044700 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000160 1 0 0 0 0 0 1 0 0 15432 5328 406 150 1380 0 6262 1486 420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes COSM4422854|COSM4422854 Pancreas|Kidney 0.007576|0.000572 132|1749 AC 255 Pass . . . . . 0.0091 0.026 0.045 0.003 0.059 0.026 ENSG00000179979:ENST00000324803:exon1:c.631_632insCA:p.S211fs CRIPAK:uc003gdf.2:exon1:c.631_632insCA:p.S211fs CRIPAK:NM_175918:exon1:c.631_632insCA:p.S211fs . . 0.6875 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 16 . . FRAME_SHIFT(HIGH||||CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) 0.0012 0.0043 0.0061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs530801181 . . . . . . . . . . . . . . . . . . . . . . . 0.004282 . . . . . . . . . . . . . . 0 6.48e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0061 . . . . 1 1538 10 1.I 0,11,16 +rs71614969 4 1388974 T C - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution synonymous exon GRCh37 1388974 1388974 Chr4(GRCh37):g.1388974T>C 675 675 NM_175918.3:c.675T>C p.Asp225= p.Asp225Asp 1 610203 rs71614969 yes no Frequency/1000G 2 0.000000 0 0.140974 0.087000 0.203500 0.026800 0.232600 0.188800 0.000500 0.001005 0.000841 0.000870 0.000000 0.000172 0.000536 0.000325 0.000369 0.001005 65 15 13 4 0 3 26 3 1 130046 14922 15458 4600 17212 17394 48520 9228 2712 0.000123 0.000536 0.000129 0.000435 0.000000 0.000000 0.000082 0.000000 0.000000 8 4 1 1 0 0 2 0 0 49 7 11 2 0 3 22 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1567005|COSM1567005|COSM1567005|COSM1567005 Upper aerodigestive tract|Thyroid|Large intestine|Haematopoietic and lymphoid tissue 0.000803|0.001339|0.001345|0.000567 1246|747|2231|3530 transition T C T>C 0.000 -0.844 D Asp GAT 0.461 D Asp GAC 0.539 225 255 PASS . . . . . 0.087 0.14 0.19 0.027 0.23 0.2 ENSG00000179979:ENST00000324803:exon1:c.T675C:p.D225D CRIPAK:uc003gdf.2:exon1:c.T675C:p.D225D CRIPAK:NM_175918:exon1:c.T675C:p.D225D . . 0.7171717 . . @ 71 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 99.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D225|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -0.4807 . . . . . . . . . . . . 0 7.862e-05 0.0004 0 0 7.346e-05 0 0 0 9.063e-05 0.0004 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1410 . . . 0.18 0.13 182 ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs71614969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0005 0.0009 0.0009 0 0.0002 0.0006 0.0004 0.0002 0.0002 0.0002 0 0 0 0.0011 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71614969 rs71614969 rs71614969 1 1538 10 1/0 0,255,255 +rs527798572 4 1389034 C G - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution synonymous exon GRCh37 1389034 1389034 Chr4(GRCh37):g.1389034C>G 735 735 NM_175918.3:c.735C>G p.Pro245= p.Pro245Pro 1 610203 Post-SET domain rs527798572 yes no Frequency/1000G 2 C 0.000000 0 0.026557 0.070300 0.017400 0.000000 0.011900 0.015900 0.002180 0.024166 0.001692 0.000000 0.000164 0.000034 0.000223 0.000720 0.001250 0.024166 538 432 54 0 3 1 25 16 7 246836 17876 31920 9566 18242 29364 112038 22228 5602 0.000178 0.002126 0.000063 0.000000 0.000000 0.000000 0.000018 0.000000 0.000357 22 19 1 0 0 0 1 0 1 492 392 52 0 3 1 23 16 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3011017 Large intestine 0.000448 2231 transversion C G C>G 0.000 -1.086 P Pro CCC 0.328 P Pro CCG 0.115 245 197 PASS . . . . . 0.07 0.027 0.016 . 0.012 0.017 ENSG00000179979:ENST00000324803:exon1:c.C735G:p.P245P CRIPAK:uc003gdf.2:exon1:c.C735G:p.P245P CRIPAK:NM_175918:exon1:c.C735G:p.P245P . . 0.152 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 125.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccG|P245|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -0.5714 . . . . . . . . . . . . 0.0087 0.0011 0.0006 0 0 0.0002 0.0018 0.0001 0.0065 0.0007 0.0006 0 0.0008 0.0002 0.0036 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0266 . . . 0.19 0.11 182 ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs527798572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0286 0.0021 0.0017 0 0.0002 0.0007 0.0002 0.0014 3.406e-05 0.0099 0.0031 0.0022 0 0 0.0006 0.0004 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +rs550408174 4 1821282 T C - LETM1 6556 Leucine zipper-EF-hand containing transmembrane protein 1 NM_012318.2 -1 5462 2220 NP_036450.1 O95202 substitution intron GRCh37 1821282 1821282 Chr4(GRCh37):g.1821282T>C 1609-83 1609-83 NM_012318.2:c.1609-83A>G p.? p.? 11 10 604407 -83 3' 93.0904 7.65208 0.968369 11.936 93.0904 7.65208 0.968369 11.936 0 Cryptic Acceptor Strongly Activated 1821274 3.32809 0.000693 70.0702 III.51 0.001822 70.0847 rs550408174 yes no Frequency 1 T 0.000000 0 0.000258 0.000115 0.000000 0.000000 0.000000 0.000000 0.000466 0.000000 0.000000 0.000466 8 1 0 0 0 0 7 0 0 30982 8732 838 302 1620 0 15014 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . INTRON(MODIFIER||||LETM1|mRNA|CODING|NM_012318|) . . . . . . . -0.2883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000168924 LETM1 LETM1 . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550408174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201275498 4 1825533 C A - LETM1 6556 Leucine zipper-EF-hand containing transmembrane protein 1 NM_012318.2 -1 5462 2220 NP_036450.1 O95202 substitution intron GRCh37 1825533 1825533 Chr4(GRCh37):g.1825533C>A 1201-31 1201-31 NM_012318.2:c.1201-31G>T p.? p.? 8 7 604407 -31 3' 75.5601 4.17194 0.1068 7.71782 75.5601 4.17194 0.1068 7.95593 0 rs201275498 yes no Frequency 1 C 0.000000 0 0.000207 0.000042 0.000122 0.000000 0.000000 0.000000 0.000357 0.000129 0.000513 0.000357 52 1 4 0 0 0 41 3 3 251374 23648 32698 7616 18746 24704 114792 23320 5850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 52 1 4 0 0 0 41 3 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 56 transversion G T G>T 0.488 3.837 255 PASS . . . . . . . . . . . . . . . . 0.48412699 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . INTRON(MODIFIER||||LETM1|mRNA|CODING|NM_012318|) . 0.0002 0.0003 . 0.0002 0.0003 . 0.4743 . . . . . . . . 2.292e-04 . . . 0.0001 0.0002 8.878e-05 0 0.0003 0.0004 0 0 0.0001 0.0002 9.139e-05 0 0.0002 0.0004 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.2 182 ENSG00000168924 LETM1 LETM1 . . . . . . 12 0.000184684 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201275498 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . III.98 6.692e-05 0.0002 0.0001 0 0 0.0002 0.0004 0.0006 0 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs201275498 rs201275498 1 1538 10 1/0 0,249,255 +rs3135152 4 2461888 A G - CFAP99 51180 Cilia and flagella associated protein 99 NM_001193282.2 1 2144 1941 NP_001180211.2 substitution missense exon GRCh37 2461888 2461888 Chr4(GRCh37):g.2461888A>G 1580 1580 NM_001193282.2:c.1580A>G p.His527Arg p.His527Arg 14 -82 5' 76.9891 6.35803 0.720853 7.51754 76.9891 6.35803 0.720853 7.51754 0 rs3135152 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.999800 1.000000 1.000000 1.000000 0.999000 1.000000 0.999963 1.000000 1.000000 1.000000 1.000000 0.999911 0.999954 0.999887 1.000000 1.000000 160730 14920 24590 8358 11536 22552 65357 8813 4604 160736 14920 24590 8358 11536 22554 65360 8814 4604 0.999925 1.000000 1.000000 1.000000 1.000000 0.999823 0.999908 0.999773 1.000000 80362 7460 12295 4179 5768 11275 32677 4406 2302 6 0 0 0 0 2 3 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.961 1.981 H His CAC 0.587 R Arg CGC 0.190 527 11 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 98.78 0.00 Tolerated 1 III.33 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. ENSG00000249428:ENST00000506607:exon7:c.A815G:p.H272R LOC402160:uc021xkr.1:exon14:c.A1580G:p.H527R CFAP99:NM_001193282:exon14:c.A1580G:p.H527R . . 1.0 . . @ 134 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.067 . . 134.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H527R|CFAP99|mRNA|CODING|NM_001193282|NM_001193282.ex.14) . . . . . . . -0.4304 -0.369 -0.430 c . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.421 0.0002 . . . 0.5 0.43 182 ENSG00000249428 LOC402160 CFAP99 . . . 1.000 0.747 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.425 . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.039 . . . . . 0.148 . 0.044 . HOM . rs3135152 1.000 1.000 . . . . . 0.9995421245421245 1.0 1.0 1.0 0.9986807387862797 V.97 . ENST00000506607 4.VI III.75 . 0.780000 . . . . . . 0.189 . . III.75 1 1.0000 1 1 1 0.9998 1.0000 1 0.9999 1 1.0000 1 1 1 1 0.9999 1 . . 0.199 . 1.310 1.310000 . . 0.780000 . . 1.0E-111 0.998 0.411 . 0.205 0.014 . 0.525 . 0.222 1.310 -0.362 1. rs3135152 rs3135152 rs3135152 rs3135152 1 1538 255 1.I 0,0,255 +rs79252276 4 2967133 G A - GRK4 4543 G protein-coupled receptor kinase 4 NM_182982.2 1 2314 1737 NP_892027.2 P32298 substitution intron GRCh37 2967133 2967133 Chr4(GRCh37):g.2967133G>A 52+1284 52+1284 NM_182982.2:c.52+1284G>A p.? p.? 1 1 137026 1284 5' 85.2503 8.22968 0.945448 12.054 85.2503 8.22968 0.945448 12.054 0 rs79252276 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000000 0.007200 0.000000 0.014900 0.002900 0.007253 0.001809 0.002318 0.005622 0.000173 0.008735 0.010536 0.012156 0.008696 0.012156 1166 27 57 47 2 197 689 107 40 160764 14928 24590 8360 11538 22554 65392 8802 4600 0.000050 0.000000 0.000000 0.000000 0.000000 0.000177 0.000061 0.000000 0.000000 4 0 0 0 0 2 2 0 0 1158 27 57 47 2 193 685 107 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -3.346 255 PASS . 0.01 0.0028 . 0.02 . 0.0048 0.0029 . 0.015 0.0072 ENSG00000125388:ENST00000442472:exon2:c.G304A:p.G102S GRK4:uc003ggm.3:exon2:c.G304A:p.G102S . . . 0.5037594 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -1.9738 . . . . . . . . 6.597e-03 . . . 0 0.0088 0 0 0 0.0113 0.0227 0.0083 0 0.0080 0 0 0 0.0081 0.0254 0.0083 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . 0.0048 . . . 0.24 0.34 182 ENSG00000125388 GRK4 GRK4 . . . . . . 609 0.00937269 64976 585 0.00975228 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79252276 0.011 0.007 . . . . . 0.00641025641025641 0.0 0.0027624309392265192 0.0 0.017150395778364115 I.55 . ENST00000442472 0.767 -1.53 . 0.000000 B4DEC9 . . . . . . . . . 0.0011 0.0071 0.0024 0.0057 0.0002 0.0113 0.0104 0.0086 0.0087 0.0023 0.0078 0.0012 0.0033 0 0.0135 0.0109 0.0092 . . . . -3.521 -3.521000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -3.521 . 0.02 . . rs79252276 rs79252276 1 1538 10 1/0 0,247,255 +rs79252276 4 2967133 G A - NOP14 16821 NOP14 nucleolar protein NM_001291978.1 -1 3656 2574 NP_001278907.1 P78316 substitution upstream GRCh37 2967133 2967133 Chr4(GRCh37):g.2967133G>A -2087 -2087 NM_001291978.1:c.-2087C>T p.? p.? 1 611526 -2282 5' 93.9148 X.81 0.992671 15.8571 93.9148 X.81 0.992671 15.8571 0 rs79252276 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000000 0.007200 0.000000 0.014900 0.002900 0.007253 0.001809 0.002318 0.005622 0.000173 0.008735 0.010536 0.012156 0.008696 0.012156 1166 27 57 47 2 197 689 107 40 160764 14928 24590 8360 11538 22554 65392 8802 4600 0.000050 0.000000 0.000000 0.000000 0.000000 0.000177 0.000061 0.000000 0.000000 4 0 0 0 0 2 2 0 0 1158 27 57 47 2 193 685 107 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -3.346 255 PASS . 0.01 0.0028 . 0.02 . 0.0048 0.0029 . 0.015 0.0072 ENSG00000125388:ENST00000442472:exon2:c.G304A:p.G102S GRK4:uc003ggm.3:exon2:c.G304A:p.G102S . . . 0.5037594 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -1.9738 . . . . . . . . 6.597e-03 . . . 0 0.0088 0 0 0 0.0113 0.0227 0.0083 0 0.0080 0 0 0 0.0081 0.0254 0.0083 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . 0.0048 . . . 0.24 0.34 182 ENSG00000125388 GRK4 GRK4 . . . . . . 609 0.00937269 64976 585 0.00975228 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79252276 0.011 0.007 . . . . . 0.00641025641025641 0.0 0.0027624309392265192 0.0 0.017150395778364115 I.55 . ENST00000442472 0.767 -1.53 . 0.000000 B4DEC9 . . . . . . . . . 0.0011 0.0071 0.0024 0.0057 0.0002 0.0113 0.0104 0.0086 0.0087 0.0023 0.0078 0.0012 0.0033 0 0.0135 0.0109 0.0092 . . . . -3.521 -3.521000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -3.521 . 0.02 . . rs79252276 rs79252276 1 1538 10 1/0 0,247,255 +rs41264739 4 3222082 C T - HTT 4851 Huntingtin NM_002111.6 1 13481 9435 NP_002102.4 substitution intron NG_009378.1 150681 150681 NG_009378.1:g.150681C>T 7375+47 7375+47 NM_002111.6:c.7375+47C>T p.? p.? 53 53 613004 47 5' 66.9153 4.67527 0.731219 0.63498 66.9153 4.67527 0.731219 0.612309 0 rs41264739 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.003100 0.000000 0.009900 0.000000 0.007576 0.001253 0.002736 0.005236 0.000106 0.005566 0.010978 0.011966 0.007991 0.011966 2071 30 93 51 2 167 1371 306 51 273352 23952 33990 9740 18822 30006 124888 25572 6382 0.000080 0.000000 0.000000 0.000000 0.000000 0.000067 0.000160 0.000000 0.000000 11 0 0 0 0 1 10 0 0 2049 30 93 51 2 165 1351 306 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8118 3691 11809 68 5 73 0.00830687 0.00135281 0.00614375 0.00830687 0.00135281 0.00614375 48 transition C T C>T 0.000 255 PASS . 0.0037 . . 0.01 . 0.0026 . . 0.0099 0.0031 . . . . . 0.43396226 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||HTT|mRNA|CODING|NM_002111|) 0.0014 0.0061 0.0083 0.0014 0.0061 0.0083 . -0.2808 . . . . . . . . 8.328e-03 . . . 0.0011 0.0055 0.0013 0 0.0087 0.0080 0.0086 0.0057 0.0009 0.0086 0.0013 0 0.0101 0.0132 0.0059 0.0056 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.42 0.09 182 ENSG00000197386 HTT HTT . . . . . . 492 0.00757203 64976 479 0.0079852 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41264739 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006144 . . . . . 0.0008 0.0076 0.0028 0.0051 0.0001 0.0118 0.0112 0.0074 0.0056 0.0021 0.0070 0.0012 0.0099 0 0.0129 0.0093 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs41264739 rs41264739 rs41264739 rs41264739 1 1538 10 1/0 0,255,255 +rs201369188 4 3417855 G T - RGS12 9994 Regulator of G-protein signaling 12 NM_198229.2 1 5477 4344 NP_937872.1 O14924 substitution intron GRCh37 3417855 3417855 Chr4(GRCh37):g.3417855G>T 2427+7 2427+7 NM_198229.2:c.2427+7G>T p.? p.? 7 7 602512 7 5' 81.5254 8.66175 0.933816 XI.47 81.5254 8.66175 0.903111 10.0449 -0.0109604 rs201369188 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002307 0.000918 0.000814 0.003655 0.000000 0.000000 0.004160 0.000427 0.002331 0.004160 637 22 28 37 0 0 524 11 15 276156 23954 34394 10124 18846 30684 125962 25756 6436 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 635 22 28 37 0 0 522 11 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4401 12962 37 5 42 0.00430333 0.00113482 0.00322978 0.00430333 0.00113482 0.00322978 40 transversion G T G>T 0.000 -0.602 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.5588235 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . 0.0011 0.0032 0.0043 0.0011 0.0032 0.0043 . 0.0709 . . . . . . . . 2.219e-03 . . . 0.0007 0.0021 0.0006 0 0.0008 0.0040 0.0015 0 0.0006 0.0020 0.0005 0 0.0009 0.0035 0.0015 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.25 0.2 182 ENSG00000159788 RGS12 RGS12 . . . . . . 206 0.0031704 64976 203 0.00338412 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201369188 . . . . . . . . . . . . . . . . . . . . 0.0001 0.004 . 0.003230 . . . . . 0.0008 0.0023 0.0008 0.0037 0 0.0004 0.0042 0.0027 0 0.0011 0.0025 0.0012 0.0033 0 0.0003 0.0042 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0043 . . rs201369188 rs201369188 1 1538 10 1/0 0,255,255 +rs767608503 4 9213473 G C - USP17L10 44438 Ubiquitin specific peptidase 17-like family member 10 NM_001256852.1 1 1593 1593 NP_001243781.1 C9JJH3 substitution missense exon GRCh37 9213473 9213473 Chr4(GRCh37):g.9213473G>C 1091 1091 NM_001256852.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 rs767608503 yes no Frequency 1 G 0.000000 0 0.009091 0.312500 0.002054 0.010000 0.002350 0.000928 0.003928 0.000519 0.001799 0.312500 210 150 12 9 4 4 29 1 1 23100 480 5842 900 1702 4310 7382 1928 556 0.257143 0.313333 0.083333 0.000000 0.250000 0.000000 0.172414 0.000000 0.000000 54 47 1 0 1 0 5 0 0 101 56 9 9 2 4 19 1 1 0 0 0 0 0 0 0 0 0 PASS 104 Exomes transversion G C G>C 0.992 -0.037 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.57 227 PASS . . . . . . . . . . . ENSG00000231396:ENST00000417945:exon1:c.G1091C:p.S364T USP17L10:uc031sdg.1:exon1:c.G1091C:p.S364T USP17L10:NM_001256852:exon1:c.G1091C:p.S364T . . 0.375 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.483 . @ . . . . . 1 0.287 . . 32.0 . . . . . . . . . . -0.5361 -0.697 -0.536 c . . . . . 8.796e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.151 @ . . . . . . ENSG00000231396 USP17L10 USP17L10 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . T 0.126 0.005 . . 37 . 0.262 . . 0.142 . . . 0.484 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.454 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.342 . . . . . . . 0.111 . HET 0.07 rs767608503 . . . . . . . . . . . . . . ENST00000417945 0.337 0.337 . . . . . . . . 0.197 . . . 0.3125 0.0091 0.0021 0.01 0.0024 0.0005 0.0039 0.0018 0.0009 . . . . . . . . . . 0.246 . 0.444 0.444000 . . . . . 1.0000000000000001E-227 0.048 0.211 . 0.223 0.365 . 0.134 . 0.036 0.444 0.562 . . . . . 1 1538 10 1/0 0,255,255 +rs751973577 4 9213672 G C - USP17L10 44438 Ubiquitin specific peptidase 17-like family member 10 NM_001256852.1 1 1593 1593 NP_001243781.1 C9JJH3 substitution missense exon GRCh37 9213672 9213672 Chr4(GRCh37):g.9213672G>C 1290 1290 NM_001256852.1:c.1290G>C p.Gln430His p.Gln430His 1 rs751973577 yes no Frequency 1 G 0.000000 0 0.000896 0.040000 0.000380 0.000000 0.000000 0.000000 0.000124 0.000000 0.001059 0.040000 36 30 3 0 0 0 2 0 1 40164 750 7886 1410 2304 6962 16094 3814 944 0.000398 0.018667 0.000254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 7 1 0 0 0 0 0 0 20 16 1 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 -0.521 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.90 247 PASS . . . . . . . . . . . ENSG00000231396:ENST00000417945:exon1:c.G1290C:p.Q430H USP17L10:uc031sdg.1:exon1:c.G1290C:p.Q430H USP17L10:NM_001256852:exon1:c.G1290C:p.Q430H . . 0.3125 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.115 . @ . . . . . 1 0.341 . . 16.0 . . . . . . . . . . -0.7138 -0.922 -0.714 c . . . . . 7.548e-04 . . . 0.0303 0.0006 0 0 0 0.0007 0 0 0.0417 0.0005 0 0 0 0.0005 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.107 @ . . . . . . ENSG00000231396 USP17L10 USP17L10 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.346 . . 0.308 . . . 0.331 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.496 . . . . . . . 0.121 . HET 0.27 rs751973577 . . . . . . . . . . . . . . ENST00000417945 0.337 -0.674 . . . . . . . . 0.036 . . . 0.0638 0.0010 0.0004 0 0 0 0.0001 0.0013 0 0 0 0 0 0 0 0 0 . . 0.246 . -0.463 -0.463000 . . . . . 1.0E-247 0.809 0.296 . 0.043 0.736 . 0.113 . 0.014 -0.463 -0.219 . . . . . 1 1538 10 1/0 0,255,255 +. 4 9217289 T C - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution synonymous exon GRCh37 9217289 9217289 Chr4(GRCh37):g.9217289T>C 159 159 NM_001256854.1:c.159T>C p.Asp53= p.Asp53Asp 1 0.000389 0.000000 0.000000 0.000000 0.000000 0.000911 0.000643 0.000000 0.000000 0.000911 2 0 0 0 0 1 1 0 0 5140 368 1320 60 428 1098 1556 130 180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 75 Exomes transition T C T>C 0.929 0.528 D Asp GAT 0.461 D Asp GAC 0.539 53 192 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.T159C:p.D53D USP17L11:uc031sdh.1:exon1:c.T159C:p.D53D . . . 0.14012739 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 471.0 . . . . . . . . . . 0.0500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000233136 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0 0.0006 0 0.0009 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +. 4 9217574 A T - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution synonymous exon GRCh37 9217574 9217574 Chr4(GRCh37):g.9217574A>T 444 444 NM_001256854.1:c.444A>T p.Ala148= p.Ala148Ala 1 0.005226 0.000000 0.008333 0.000000 0.000000 0.013889 0.000000 0.000000 0.041667 0.013889 3 0 1 0 0 1 0 0 1 574 10 120 2 24 72 304 18 24 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.929 0.044 A Ala GCA 0.226 A Ala GCT 0.263 148 175 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.A444T:p.A148A USP17L11:uc031sdh.1:exon1:c.A444T:p.A148A . . . 0.10333333 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 300.0 . . . . . . . . . . -0.0622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000233136 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0052 0.0083 0 0 0 0 0.0417 0.0139 . 0 . . . 0 . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,179,255 +. 4 9217678 T C - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution missense exon GRCh37 9217678 9217678 Chr4(GRCh37):g.9217678T>C 548 548 NM_001256854.1:c.548T>C p.Val183Ala p.Val183Ala 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 462 10 82 2 8 70 270 4 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 136 Exomes transition T C T>C 0.961 1.174 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 283.42 0.00 Tolerated 0.51 II.60 186 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.T548C:p.V183A USP17L11:uc031sdh.1:exon1:c.T548C:p.V183A . . . 0.124579124 . . @ 74 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.026 . . 594.0 . . . . . . . . . . -0.7957 -0.933 -0.796 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . . @ . . . . . . ENSG00000233136 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . D 0.973 0.672 . . 37 . 0.169 . . 0.193 . . . 0.233 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.010 . . . . . . . 0.152 . LowAF 0.35 . . . . . . . . . . . . . . . ENST00000457736 . . . 1.000000 . . . . . . 0.262 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . 0.093 0.093000 . . 1.000000 . . 1.0E-186 0.920 0.317 . 0.095 0.004 . 0.511 . 0.270 0.093 0.609 . . . . . 1 1538 10 1/0 0,151,250 +. 4 9218075 C T - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution synonymous exon GRCh37 9218075 9218075 Chr4(GRCh37):g.9218075C>T 945 945 NM_001256854.1:c.945C>T p.Leu315= p.Leu315Leu 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.008 -1.247 L Leu CTC 0.197 L Leu CTT 0.129 315 245 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.C945T:p.L315L USP17L11:uc031sdh.1:exon1:c.C945T:p.L315L . . . 0.29310346 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.8052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000233136 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9218420 G C - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution missense exon GRCh37 9218420 9218420 Chr4(GRCh37):g.9218420G>C 1290 1290 NM_001256854.1:c.1290G>C p.Gln430His p.Gln430His 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.858 0.125 Q Gln CAG 0.744 H His CAC 0.587 430 16 8 Fruitfly 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.02 II.88 254 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.G1290C:p.Q430H USP17L11:uc031sdh.1:exon1:c.G1290C:p.Q430H . . . 0.31631204 . . @ 223 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.107 . @ . . . . . 1 0.289 . . 705.0 . . . . . . . . . . -0.6934 -0.882 -0.693 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . . @ . . . 0.37 0.21 182 ENSG00000233136 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.963 0.581 . . 37 . 0.349 . . 0.313 . . . 0.331 0.504 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.019 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.486 . . . . . . . 0.160 . HET 0.27 . . . . . . . . . . . . . . . ENST00000457736 . . . 0.480000 . . . . . . 0.077 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.107 0.107000 . . 0.480000 . . 1.0000000000000001E-254 0.431 0.262 . 0.157 0.736 . 0.061 . 0.030 0.107 -0.219 . . . . . 1 1538 10 1/0 0,162,218 +. 4 9219022 T C - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution downstream GRCh37 9219022 9219022 Chr4(GRCh37):g.9219022T>C *299 *299 NM_001256854.1:c.*299T>C p.? p.? 1 transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.39130434 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . . . . . . . . . -0.4203 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream downstream . . . @ . . . . . . ENSG00000232399 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9221944 T C - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9221944 9221944 Chr4(GRCh37):g.9221944T>C 67 67 NM_001256853.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 2 0 2 4 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.748 0.851 S Ser TCT 0.185 P Pro CCT 0.283 23 16 6 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.2 II.60 255 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.T67C:p.S23P USP17L12:uc031sdi.1:exon1:c.T67C:p.S23P . . . 0.33333334 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.146 . @ . . . . . 1 0.120 . . 63.0 . . . . . . . . . . -0.8260 -1.024 -0.826 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.154 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . D 0.911 0.309 . . 37 . 0.132 . . 0.259 . . . 0.510 0.481 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.147 . . . . . . . 0.285 . HET 0.27 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.280000 . . . . . . 0.055 . . . . 0 0 . 0 . . . 0 . . . . . . . . . . 0.246 . 0.115 0.115000 . . 0.280000 . . 1.0E-255 0.004 0.165 . 0.137 . . 0.209 . 0.269 0.115 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9221952 C A - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9221952 9221952 Chr4(GRCh37):g.9221952C>A 75 75 NM_001256853.1:c.75C>A p.Pro25= p.Pro25Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 4 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.441 -1.651 P Pro CCC 0.328 P Pro CCA 0.274 25 224 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C75A:p.P25P USP17L12:uc031sdi.1:exon1:c.C75A:p.P25P . . . 0.22580644 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.7200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . 0 . . . 0 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9222036 T C - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9222036 9222036 Chr4(GRCh37):g.9222036T>C 159 159 NM_001256853.1:c.159T>C p.Asp53= p.Asp53Asp 1 transition T C T>C 0.992 1.658 D Asp GAT 0.461 D Asp GAC 0.539 53 196 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.T159C:p.D53D USP17L12:uc031sdi.1:exon1:c.T159C:p.D53D . . . 0.1521739 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.1273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9222162 G A - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9222162 9222162 Chr4(GRCh37):g.9222162G>A 285 285 NM_001256853.1:c.285G>A p.Leu95= p.Leu95Leu 1 transition G A G>A 0.992 0.044 L Leu TTG 0.127 L Leu TTA 0.073 95 196 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.G285A:p.L95L USP17L12:uc031sdi.1:exon1:c.G285A:p.L95L . . . 0.14893617 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . -0.0567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +. 4 9222258 G T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9222258 9222258 Chr4(GRCh37):g.9222258G>T 381 381 NM_001256853.1:c.381G>T p.Thr127= p.Thr127Thr 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G T G>T 0.992 -1.328 T Thr ACG 0.116 T Thr ACT 0.243 127 186 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.G381T:p.T127T USP17L12:uc031sdi.1:exon1:c.G381T:p.T127T . . . 0.12612613 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . -0.5720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,194,255 +. 4 9222314 C A - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution stop gain exon GRCh37 9222314 9222314 Chr4(GRCh37):g.9222314C>A 437 437 NM_001256853.1:c.437C>A p.Ser146* p.Ser146* 1 transversion C A C>A 0.937 0.044 S Ser TCA 0.148 * * TAA 0.277 146 177 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C437A:p.S146X USP17L12:uc031sdi.1:exon1:c.C437A:p.S146X . . . 0.105960265 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.941 . @ . . . . . 0 0.299 . . 302.0 . . . . . . . . . . -0.1032 -0.573 -0.103 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.071 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF 0.09 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.110000 . . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.132 0.132000 . . 0.110000 . . 1.0E-177 0.013 0.187 . 0.226 0.008 . 0.262 . 0.268 0.132 -0.269 . . . . . 1 1538 10 1/0 0,179,255 +. 4 9222321 A T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9222321 9222321 Chr4(GRCh37):g.9222321A>T 444 444 NM_001256853.1:c.444A>T p.Ala148= p.Ala148Ala 1 transversion A T A>T 0.906 -0.198 A Ala GCA 0.226 A Ala GCT 0.263 148 177 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.A444T:p.A148A USP17L12:uc031sdi.1:exon1:c.A444T:p.A148A . . . 0.10638298 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 282.0 . . . . . . . . . . -0.3144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,255 +. 4 9222806 C T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9222806 9222806 Chr4(GRCh37):g.9222806C>T 929 929 NM_001256853.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 transition C T C>T 0.535 -1.167 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.23 II.53 206 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C929T:p.P310L USP17L12:uc031sdi.1:exon1:c.C929T:p.P310L . . . 0.17582418 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.220 . @ . . . . . 1 0.072 . . 91.0 . . . . . . . . . . -1.1976 -1.445 -1.198 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.969 0.632 . . 37 . 0.083 . . 0.357 . . . 0.399 0.290 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.365 . . . . . . . 0.121 . HET 0.15 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.110000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.589 -1.589000 . . 0.110000 . . 1.0E-206 0.000 0.063 . 0.265 0.003 . 0.081 . 0.043 -1.589 -2.530 . . . . . 1 1538 10 1/0 0,237,255 +. 4 9222956 C T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9222956 9222956 Chr4(GRCh37):g.9222956C>T 1079 1079 NM_001256853.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 transition C T C>T 0.945 0.125 T Thr ACT 0.243 I Ile ATT 0.356 360 16 8 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.51 II.54 189 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C1079T:p.T360I USP17L12:uc031sdi.1:exon1:c.C1079T:p.T360I . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.102 . . 129.0 . . . . . . . . . . -0.4960 -0.710 -0.496 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.913 0.315 . . 37 . 0.339 . . 0.220 . . . 0.569 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.427 . . . . . . . 0.202 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.060000 . . . . . . 0.131 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.132 0.132000 . . 0.060000 . . 1.0E-189 0.000 0.063 . 0.120 0.014 . 0.177 . 0.268 0.132 -0.632 . . . . . 1 1538 10 1/0 0,218,255 +. 4 9222968 G C - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9222968 9222968 Chr4(GRCh37):g.9222968G>C 1091 1091 NM_001256853.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 transversion G C G>C 0.992 0.125 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 163 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.G1091C:p.S364T USP17L12:uc031sdi.1:exon1:c.G1091C:p.S364T . . . 0.26086956 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.315 . @ . . . . . 1 0.164 . . 115.0 . . . . . . . . . . -0.5517 -0.735 -0.552 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.956 0.531 . . 37 . 0.290 . . 0.301 . . . 0.419 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.339 . . . . . . . 0.188 . HET 0.07 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.030000 . . . . . . 0.179 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.132 0.132000 . . 0.030000 . . 1.0E-163 0.003 0.159 . 0.163 0.353 . 0.072 . 0.040 0.132 0.562 . . . . . 1 1538 10 1/0 0,241,255 +. 4 9223111 C T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9223111 9223111 Chr4(GRCh37):g.9223111C>T 1234 1234 NM_001256853.1:c.1234C>T p.His412Tyr p.His412Tyr 1 transition C T C>T 0.173 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 2 Macaque 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.12 II.86 147 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C1234T:p.H412Y USP17L12:uc031sdi.1:exon1:c.C1234T:p.H412Y . . . 0.14545454 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.164 . @ . . . . . 1 0.313 . . 110.0 . . . . . . . . . . -0.9022 -1.079 -0.902 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.985 0.804 . . 37 . 0.248 . . 0.247 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.395 . . . . . . . 0.155 . LowAF 0.15 . . . . . . . . . . . . . . . ENST00000415041 . . . 0.080000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.088 0.088000 . . 0.080000 . . 1.0E-147 0.022 0.197 . 0.145 0.113 . 0.140 . 0.163 0.088 0.057 . . . . . 1 1538 10 1/0 0,229,255 +. 4 9223167 G C - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9223167 9223167 Chr4(GRCh37):g.9223167G>C 1290 1290 NM_001256853.1:c.1290G>C p.Gln430His p.Gln430His 1 transversion G C G>C 0.122 0.125 Q Gln CAG 0.744 H His CAC 0.587 430 16 6 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.86 226 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.G1290C:p.Q430H USP17L12:uc031sdi.1:exon1:c.G1290C:p.Q430H . . . 0.22916667 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.140 . @ . . . . . 1 0.426 . . 192.0 . . . . . . . . . . -0.7381 -0.943 -0.738 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.948 0.479 . . 37 . 0.357 . . 0.321 . . . 0.331 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.014 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.496 . . . . . . . 0.255 . HET 0.27 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.430000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.132 0.132000 . . 0.430000 . . 1.0000000000000001E-226 0.286 0.250 . 0.154 0.736 . 0.080 . 0.030 0.132 -0.219 . . . . . 1 1538 10 1/0 0,209,255 +. 4 9227065 A T - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution synonymous exon GRCh37 9227065 9227065 Chr4(GRCh37):g.9227065A>T 444 444 NM_001256855.1:c.444A>T p.Ala148= p.Ala148Ala 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.874 -0.037 A Ala GCA 0.226 A Ala GCT 0.263 148 189 PASS . . . . . . . . . . . . USP17L13:uc031sdj.1:exon1:c.A444T:p.A148A USP17L13:NM_001256855:exon1:c.A444T:p.A148A . . 0.13170731 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 205.0 . . . . . . . . . . -0.2946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,255 +. 4 9227479 G C - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution synonymous exon GRCh37 9227479 9227479 Chr4(GRCh37):g.9227479G>C 858 858 NM_001256855.1:c.858G>C p.Val286= p.Val286Val 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.976 -0.682 V Val GTG 0.468 V Val GTC 0.240 286 111 PASS . . . . . . . . . . . . USP17L13:uc031sdj.1:exon1:c.G858C:p.V286V USP17L13:NM_001256855:exon1:c.G858C:p.V286V . . 1.0 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs370934988 4 9227656 A G - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution synonymous exon GRCh37 9227656 9227656 Chr4(GRCh37):g.9227656A>G 1035 1035 NM_001256855.1:c.1035A>G p.Gln345= p.Gln345Gln 1 rs370934988 no no 0 0.000000 0 0.003311 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.009804 0.000000 0.009804 1 0 0 0 0 0 0 1 0 302 6 92 0 14 0 78 102 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 -1.086 Q Gln CAA 0.256 Q Gln CAG 0.744 345 111 PASS . . . . . . . . . . . . USP17L13:uc031sdj.1:exon1:c.A1035G:p.Q345Q USP17L13:NM_001256855:exon1:c.A1035G:p.Q345Q . . 1.0 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.3369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs370934988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0033 0 . 0 0.0098 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs370934988 rs370934988 1 1538 255 1.I 0,0,255 +. 4 9227855 C T - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution missense exon GRCh37 9227855 9227855 Chr4(GRCh37):g.9227855C>T 1234 1234 NM_001256855.1:c.1234C>T p.His412Tyr p.His412Tyr 1 0.001367 0.000000 0.000539 0.055556 0.004202 0.000000 0.000000 0.000000 0.000000 0.055556 6 0 1 2 3 0 0 0 0 4390 92 1854 36 714 602 814 136 142 0.000456 0.000000 0.000000 0.000000 0.002801 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 4 0 1 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.205 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 175 PASS . . . . . . . . . . . . USP17L13:uc031sdj.1:exon1:c.C1234T:p.H412Y USP17L13:NM_001256855:exon1:c.C1234T:p.H412Y . . 0.14349777 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.340 . @ . . . . . 1 0.292 . . 223.0 . . . . . . . . . . -0.9152 -1.085 -0.915 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.988 0.842 . . 37 . 0.241 . . 0.185 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.384 . . . . . . . 0.084 . LowAF 0.14 . . . . . . . . . . . . . . . . . . . 0.180000 . . . . . . 0.014 . . . 0 0.0015 0.0006 0.0588 0.0044 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.246 . 0.088 0.088000 . . 0.180000 . . 1.0E-175 0.026 0.200 . 0.146 0.116 . 0.140 . 0.163 0.088 0.057 . . . . . 1 1538 10 1/0 0,196,255 +. 4 9228513 T C - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution downstream GRCh37 9228513 9228513 Chr4(GRCh37):g.9228513T>C *299 *299 NM_001256855.1:c.*299T>C p.? p.? 1 transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5106383 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . DOWNSTREAM(MODIFIER||||USP17L13|mRNA|CODING|NM_001256855|) . . . . . . . -0.4115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs369610264 (chr4:9231810 A/T) 4 9231810 A T Not on a known gene +rs372974796 (chr4:9232656 G/C) 4 9232656 G C Not on a known gene +. (chr4:9233258 T/C) 4 9233258 T C Not on a known gene +. 4 9236269 T C - USP17L15 44443 Ubiquitin specific peptidase 17-like family member 15 NM_001256894.1 1 1680 1680 NP_001243823.1 substitution synonymous exon GRCh37 9236269 9236269 Chr4(GRCh37):g.9236269T>C 159 159 NM_001256894.1:c.159T>C p.Asp53= p.Asp53Asp 1 -1460 5' 71.5895 3.11989 0.588981 0 71.5895 3.11989 0.588981 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 856 12 344 10 98 206 142 4 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 77 Exomes transition T C T>C 0.646 0.205 D Asp GAT 0.461 D Asp GAC 0.539 53 234 PASS . . . . . . . . . . . ENSG00000223569:ENST00000456464:exon1:c.T159C:p.D53D USP17L15:uc031sdk.1:exon1:c.T159C:p.D53D USP17L15:NM_001256894:exon1:c.T159C:p.D53D . . 0.252149 . . @ 176 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 698.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D53|USP17L15|mRNA|CODING|NM_001256894|NM_001256894.ex.1) . . . . . . . -0.1149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000223569 USP17L15 USP17L15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,158,255 +. 4 9236491 G T - USP17L15 44443 Ubiquitin specific peptidase 17-like family member 15 NM_001256894.1 1 1680 1680 NP_001243823.1 substitution synonymous exon GRCh37 9236491 9236491 Chr4(GRCh37):g.9236491G>T 381 381 NM_001256894.1:c.381G>T p.Thr127= p.Thr127Thr 1 -1238 5' 71.5895 3.11989 0.588981 0 71.5895 3.11989 0.588981 0 0 Cryptic Acceptor Strongly Activated 9236499 1.02634 8.1e-05 60.3759 2.42956 0.000444 65.541 0.003275 0.000000 0.001259 0.000000 0.001965 0.007743 0.003218 0.014286 0.006579 0.014286 18 0 2 0 2 7 5 1 1 5496 142 1588 68 1018 904 1554 70 152 0.055556 0.000000 0.000000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 16 0 2 0 2 7 3 1 1 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transversion G T G>T 0.984 -1.974 T Thr ACG 0.116 T Thr ACT 0.243 127 197 PASS . . . . . . . . . . . ENSG00000223569:ENST00000456464:exon1:c.G381T:p.T127T USP17L15:uc031sdk.1:exon1:c.G381T:p.T127T USP17L15:NM_001256894:exon1:c.G381T:p.T127T . . 0.15037593 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 266.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acT|T127|USP17L15|mRNA|CODING|NM_001256894|NM_001256894.ex.1) . . . . . . . -0.8233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000223569 USP17L15 USP17L15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0033 0.0013 0 0.0020 0.0143 0.0032 0.0066 0.0077 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,188,255 +. 4 9236554 A T - USP17L15 44443 Ubiquitin specific peptidase 17-like family member 15 NM_001256894.1 1 1680 1680 NP_001243823.1 substitution synonymous exon GRCh37 9236554 9236554 Chr4(GRCh37):g.9236554A>T 444 444 NM_001256894.1:c.444A>T p.Ala148= p.Ala148Ala 1 -1175 5' 71.5895 3.11989 0.588981 0 71.5895 3.11989 0.588981 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6790 180 2100 100 1222 1062 1840 100 186 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 63 Exomes transversion A T A>T 0.913 -0.198 A Ala GCA 0.226 A Ala GCT 0.263 148 177 PASS . . . . . . . . . . . ENSG00000223569:ENST00000456464:exon1:c.A444T:p.A148A USP17L15:uc031sdk.1:exon1:c.A444T:p.A148A USP17L15:NM_001256894:exon1:c.A444T:p.A148A . . 0.10576923 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 312.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|A148|USP17L15|mRNA|CODING|NM_001256894|NM_001256894.ex.1) . . . . . . . -0.2563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000223569 USP17L15 USP17L15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,255 +. 4 9237941 G T - USP17L15 44443 Ubiquitin specific peptidase 17-like family member 15 NM_001256894.1 1 1680 1680 NP_001243823.1 substitution intron GRCh37 9237941 9237941 Chr4(GRCh37):g.9237941G>T 1619-58 1619-58 NM_001256894.1:c.1619-58G>T p.? p.? 2 1 -58 3' 78.72 8.0458 0.513923 3.96089 78.72 8.0458 0.513923 3.72182 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 170 10 32 2 12 0 66 38 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 154 Genomes transversion G T G>T 0.102 0.044 187 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||USP17L15|mRNA|CODING|NM_001256894|) . . . . . . . -0.3450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . . . . ENSG00000223569 USP17L15 USP17L15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs191188665 (chr4:9241835 A/G) 4 9241835 A G Not on a known gene +. (chr4:9242747 T/C) 4 9242747 T C Not on a known gene +. 4 9246041 C A - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution stop gain exon GRCh37 9246041 9246041 Chr4(GRCh37):g.9246041C>A 437 437 NM_001256857.1:c.437C>A p.Ser146* p.Ser146* 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1462 838 116 8 54 80 328 14 24 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.622 0.205 S Ser TCA 0.148 * * TAA 0.277 146 176 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.C437A:p.S146X USP17L17:uc031sdl.1:exon1:c.C437A:p.S146X USP17L17:NM_001256857:exon1:c.C437A:p.S146X . . 0.10552764 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.938 . @ . . . . . 0 0.287 . . 199.0 . . . . . . . . . . -0.0493 -0.508 -0.049 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.071 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000511568 0.37 0.37 . 0.130000 . . . . . . 0.011 . . . 0 0 0 0 0 0 0 0 0 0 0 0 . . . 0 . . . 0.246 . 0.450 0.450000 . . 0.130000 . . 1.0E-176 0.001 0.137 . 0.229 0.008 . 0.062 . 0.268 0.450 -0.269 . . . . . 1 1538 10 1/0 0,197,255 +. 4 9246462 G C - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution synonymous exon GRCh37 9246462 9246462 Chr4(GRCh37):g.9246462G>C 858 858 NM_001256857.1:c.858G>C p.Val286= p.Val286Val 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G C G>C 0.480 -1.409 V Val GTG 0.468 V Val GTC 0.240 286 111 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.G858C:p.V286V USP17L17:uc031sdl.1:exon1:c.G858C:p.V286V USP17L17:NM_001256857:exon1:c.G858C:p.V286V . . 1.0 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.7313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 4 9246639 A G - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution synonymous exon GRCh37 9246639 9246639 Chr4(GRCh37):g.9246639A>G 1035 1035 NM_001256857.1:c.1035A>G p.Gln345= p.Gln345Gln 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2716 236 144 24 188 0 1570 442 112 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 1.000 0.528 Q Gln CAA 0.256 Q Gln CAG 0.744 345 111 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.A1035G:p.Q345Q USP17L17:uc031sdl.1:exon1:c.A1035G:p.Q345Q USP17L17:NM_001256857:exon1:c.A1035G:p.Q345Q . . 1.0 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.2976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 4 9246673 G T - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution missense exon GRCh37 9246673 9246673 Chr4(GRCh37):g.9246673G>T 1069 1069 NM_001256857.1:c.1069G>T p.Ala357Ser p.Ala357Ser 1 transversion G T G>T 0.000 -1.005 A Ala GCT 0.263 S Ser TCT 0.185 357 16 1 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 256.10 0.00 Tolerated 0.31 II.53 111 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.G1069T:p.A357S USP17L17:uc031sdl.1:exon1:c.G1069T:p.A357S USP17L17:NM_001256857:exon1:c.G1069T:p.A357S . . 1.0 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.063 . @ . . . . . 1 0.022 . . 21.0 . . . . . . . . . . -1.5118 -1.621 -1.512 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.053 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.990 0.870 . . 37 . 0.020 . . 0.435 . . . 0.096 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.046 . . . . . . . 0.137 . HOM . . . . . . . . . . . . . . . . ENST00000511568 0.37 0.37 . 0.980000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.078 -1.078000 . . 0.980000 . . 1.0E-111 0.001 0.137 . 0.043 0.001 . 0.162 . 0.038 -1.078 -2.440 . . . . . 1 1538 255 1.I 0,0,255 +. 4 9246695 G C - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution missense exon GRCh37 9246695 9246695 Chr4(GRCh37):g.9246695G>C 1091 1091 NM_001256857.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 transversion G C G>C 0.984 0.367 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.4 II.53 201 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.G1091C:p.S364T USP17L17:uc031sdl.1:exon1:c.G1091C:p.S364T USP17L17:NM_001256857:exon1:c.G1091C:p.S364T . . 0.37373737 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.476 . @ . . . . . 1 0.260 . . 99.0 . . . . . . . . . . -0.5214 -0.719 -0.521 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.920 0.339 . . 37 . 0.320 . . 0.170 . . . 0.430 0.216 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.454 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.341 . . . . . . . 0.191 . HET . . . . . . . . . . . . . . . . ENST00000511568 0.37 0.37 . 0.050000 . . . . . . 0.191 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.450 0.450000 . . 0.050000 . . 1.0E-201 0.942 0.325 . 0.157 0.355 . 0.047 . 0.040 0.450 0.562 . . . rs62411732 rs62411732 1 1538 10 1/0 0,255,255 +. 4 9247496 T C - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution downstream GRCh37 9247496 9247496 Chr4(GRCh37):g.9247496T>C *299 *299 NM_001256857.1:c.*299T>C p.? p.? 1 transition T C T>C 0.000 0.125 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 28.0 . . . . . . . . . . -0.4184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9250903 T C - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution missense exon GRCh37 9250903 9250903 Chr4(GRCh37):g.9250903T>C 548 548 NM_001256859.1:c.548T>C p.Val183Ala p.Val183Ala 1 0.001263 0.002021 0.000647 0.004032 0.003067 0.000497 0.000661 0.000000 0.000000 0.004032 46 15 3 3 14 2 9 0 0 36432 7422 4636 744 4564 4028 13626 480 932 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 15 3 3 14 2 9 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.367 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 283.42 0.00 Tolerated 0.51 II.59 177 PASS . . . . . . . . . . . ENSG00000250844:ENST00000504209:exon1:c.T548C:p.V183A USP17L11:uc011bwp.2:exon1:c.T548C:p.V183A . . . 0.105906315 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.010 . . 491.0 . . . . . . . . . . -1.1878 -1.258 -1.188 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000250844 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.047 0.002 . . 37 . 0.166 . . 0.347 . . . 0.233 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.210 . . 0.236 . . . . . . 1 0.010 . . . . . . . 0.162 . LowAF . . . . . . . . . . . . . . . . ENST00000504209 0.37 0.37 . 1.000000 D6R9N7 . . . . . 0.082 . . . 0.0016 0.0012 0.0007 0.0041 0.0031 0 0.0007 0 0.0005 0.0027 0.0022 0 0 0 0 0 0 . . 0.246 . 0.379 0.379000 . . 1.000000 . . 1.0E-177 0.001 0.137 . 0.083 0.003 . 0.273 . 0.270 0.379 0.615 . . . . . 1 1538 10 1/0 0,158,255 +. 4 9251566 A T - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution missense exon GRCh37 9251566 9251566 Chr4(GRCh37):g.9251566A>T 1211 1211 NM_001256859.1:c.1211A>T p.Lys404Met p.Lys404Met 1 transversion A T A>T 0.000 -1.974 K Lys AAG 0.575 M Met ATG 1.000 404 16 1 -1 -1 -3 0.33 0 11.III 5.VII 119 105 95 C0 353.86 0.00 Tolerated 0.16 II.89 255 PASS . . . . . . . . . . . ENSG00000250844:ENST00000504209:exon1:c.A1211T:p.K404M USP17L11:uc011bwp.2:exon1:c.A1211T:p.K404M . . . 0.8333333 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.098 . @ . . . . . 1 0.019 . . 12.0 . . . . . . . . . . -1.8892 -1.957 -1.889 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . 0.105 @ . . . . . . ENSG00000250844 USP17L11 . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.139 . . 0.141 . . . 0.019 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.163 . . . . . . . 0.196 . HOM . . . . . . . . . . . . . . . . ENST00000504209 0.37 -0.739 . 0.220000 D6R9N7 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.095 -2.095000 . . 0.220000 . . 1.0E-255 0.002 0.151 . 0.146 0.066 . 0.028 . 0.032 -2.095 -2.431 . . . . . 1 1538 10 1/0 0,255,255 +rs748319841 4 9251589 C T - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution missense exon GRCh37 9251589 9251589 Chr4(GRCh37):g.9251589C>T 1234 1234 NM_001256859.1:c.1234C>T p.His412Tyr p.His412Tyr 1 rs748319841 yes no Frequency 1 0.000000 0 0.003844 0.000000 0.001076 0.070312 0.000000 0.000268 0.003761 0.005450 0.000000 0.070312 60 0 4 36 0 1 15 4 0 15610 1050 3716 512 1540 3736 3988 734 334 0.000256 0.000000 0.000000 0.000000 0.000000 0.000000 0.001003 0.000000 0.000000 2 0 0 0 0 0 2 0 0 56 0 4 36 0 1 11 4 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.008 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.22 II.89 195 PASS . . . . . . . . . . . ENSG00000250844:ENST00000504209:exon1:c.C1234T:p.H412Y USP17L11:uc011bwp.2:exon1:c.C1234T:p.H412Y . . . 0.14893617 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.268 . . 47.0 . . . . . . . . . . -0.9797 -1.146 -0.980 c . . . . . 2.203e-03 . . . 0 0.0006 0 0 0 0.0036 0 0 0 0.0005 0 0 0 0.0028 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000250844 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . T 0.068 0.003 . . 37 . 0.313 . . 0.369 . . . 0.065 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.342 . . 0.431 . . . . . . 1 0.390 . . . . . . . 0.129 . LowAF . rs748319841 . . . . . . . . . . . . . . ENST00000504209 . . . 0.030000 D6R9N7 . . . . . 0.014 . . . 0 0.0040 0.0011 0.0709 0 0.0075 0.0039 0 0.0003 0 0 0 0 0 0 0 0 . . 0.246 . 0.088 0.088000 . . 0.030000 . . 9.999999999999999E-196 0.003 0.159 . 0.138 0.082 . 0.198 . 0.163 0.088 0.057 . . . . . 1 1538 10 1/0 0,255,255 +. 4 9252188 G T - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution downstream GRCh37 9252188 9252188 Chr4(GRCh37):g.9252188G>T *240 *240 NM_001256859.1:c.*240G>T p.? p.? 1 transversion G T G>T 0.012 0.367 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . . . . . . . . . -0.3724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000250844 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +rs775345850 4 9252247 T C - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution downstream GRCh37 9252247 9252247 Chr4(GRCh37):g.9252247T>C *299 *299 NM_001256859.1:c.*299T>C p.? p.? 1 rs775345850 no no 0 0.000000 0 transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41379312 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 29.0 . . . . . . . . . . -0.4117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000250844 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs775345850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9255262 T C - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution synonymous exon GRCh37 9255262 9255262 Chr4(GRCh37):g.9255262T>C 159 159 NM_001256860.1:c.159T>C p.Asp53= p.Asp53Asp 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1876 148 730 8 190 458 258 4 80 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 147 Exomes transition T C T>C 0.031 0.044 D Asp GAT 0.461 D Asp GAC 0.539 53 198 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.T159C:p.D53D USP17L19:uc031sdm.1:exon1:c.T159C:p.D53D USP17L19:NM_001256860:exon1:c.T159C:p.D53D . . 0.15337424 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 326.0 . . . . . . . . . . -0.0785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000248920 USP17L19 USP17L19 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +. 4 9255547 A T - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution synonymous exon GRCh37 9255547 9255547 Chr4(GRCh37):g.9255547A>T 444 444 NM_001256860.1:c.444A>T p.Ala148= p.Ala148Ala 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 15449 Exomes transversion A T A>T 0.134 -0.279 A Ala GCA 0.226 A Ala GCT 0.263 148 190 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.A444T:p.A148A USP17L19:uc031sdm.1:exon1:c.A444T:p.A148A USP17L19:NM_001256860:exon1:c.A444T:p.A148A . . 0.13580246 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 162.0 . . . . . . . . . . -0.4340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000248920 USP17L19 USP17L19 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +. 4 9255651 T C - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution missense exon GRCh37 9255651 9255651 Chr4(GRCh37):g.9255651T>C 548 548 NM_001256860.1:c.548T>C p.Val183Ala p.Val183Ala 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 0.367 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 283.42 0.00 Tolerated 0.51 II.59 185 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.T548C:p.V183A USP17L19:uc031sdm.1:exon1:c.T548C:p.V183A USP17L19:NM_001256860:exon1:c.T548C:p.V183A . . 0.122486286 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.022 . . 547.0 . . . . . . . . . . -0.7934 -0.927 -0.793 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000248920 USP17L19 USP17L19 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . D 0.964 0.591 . . 37 . 0.174 . . 0.180 . . . 0.233 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.010 . . . . . . . 0.138 . LowAF . . . . . . . . . . . . . . . . ENST00000515566 0.37 0.37 . 1.000000 . . . . . . 0.164 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.379 0.379000 . . 1.000000 . . 1.0E-185 0.009 0.180 . 0.083 0.003 . 0.256 . 0.270 0.379 0.615 . . . . . 1 1538 10 1/0 0,155,255 +. 4 9256194 G C - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution missense exon GRCh37 9256194 9256194 Chr4(GRCh37):g.9256194G>C 1091 1091 NM_001256860.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 transversion G C G>C 0.992 0.205 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.56 255 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.G1091C:p.S364T USP17L19:uc031sdm.1:exon1:c.G1091C:p.S364T USP17L19:NM_001256860:exon1:c.G1091C:p.S364T . . 0.43421054 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.474 . @ . . . . . 1 0.135 . . 76.0 . . . . . . . . . . -0.5402 -0.731 -0.540 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.153 @ . . . 0.37 0.12 182 ENSG00000248920 USP17L19 USP17L19 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.935 0.405 . . 37 . 0.264 . . 0.131 . . . 0.427 0.218 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.339 . . . . . 0.052 . 0.192 . HET . . . . . . . . . . . . . . II.03 . ENST00000515566 0.37 0.37 . 0.050000 . . . . . . 0.188 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.450 0.450000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.163 0.353 . 0.062 . 0.040 0.450 0.562 . . . . . 1 1538 10 1/0 0,255,255 +. 4 9256337 C T - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution missense exon GRCh37 9256337 9256337 Chr4(GRCh37):g.9256337C>T 1234 1234 NM_001256860.1:c.1234C>T p.His412Tyr p.His412Tyr 1 transition C T C>T 0.008 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.22 II.87 198 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.C1234T:p.H412Y USP17L19:uc031sdm.1:exon1:c.C1234T:p.H412Y USP17L19:NM_001256860:exon1:c.C1234T:p.H412Y . . 0.1553398 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.153 . @ . . . . . 1 0.279 . . 103.0 . . . . . . . . . . -0.9576 -1.135 -0.958 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.36 0.1 182 ENSG00000248920 USP17L19 USP17L19 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.990 0.865 . . 37 . 0.232 . . 0.146 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.395 . . . . . . . 0.149 . HET . . . . . . . . . . . . . . . . ENST00000515566 . . . 0.250000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.064 0.064000 . . 0.250000 . . 1.0E-198 0.011 0.184 . 0.146 0.113 . 0.140 . 0.163 0.064 0.057 . . . . . 1 1538 10 1/0 0,229,255 +. 4 9256393 G C - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution missense exon GRCh37 9256393 9256393 Chr4(GRCh37):g.9256393G>C 1290 1290 NM_001256860.1:c.1290G>C p.Gln430His p.Gln430His 1 transversion G C G>C 0.000 -0.440 Q Gln CAG 0.744 H His CAC 0.587 430 16 8 Fruitfly 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.02 II.87 233 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.G1290C:p.Q430H USP17L19:uc031sdm.1:exon1:c.G1290C:p.Q430H USP17L19:NM_001256860:exon1:c.G1290C:p.Q430H . . 0.25308642 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.251 . @ . . . . . 1 0.372 . . 162.0 . . . . . . . . . . -0.9006 -1.143 -0.901 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000248920 USP17L19 USP17L19 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.965 0.604 . . 37 . 0.341 . . 0.326 . . . 0.331 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.491 . . . . . . . 0.163 . HET . . . . . . . . . . . . . . . . ENST00000515566 0.36 -0.72 . 0.410000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.463 -0.463000 . . 0.410000 . . 1.0000000000000001E-233 0.047 0.211 . 0.157 0.736 . 0.058 . 0.030 -0.463 -0.219 . . . . . 1 1538 10 1/0 0,219,255 +. 4 9259837 C T - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution upstream GRCh37 9259837 9259837 Chr4(GRCh37):g.9259837C>T -13 -13 NM_001256861.1:c.-13C>T p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.047 -1.409 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . -0.7109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 4 9259916 T C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9259916 9259916 Chr4(GRCh37):g.9259916T>C 67 67 NM_001256861.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 1.013 S Ser TCT 0.185 P Pro CCT 0.283 23 16 7 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.13 II.62 237 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.T67C:p.S23P USP17L11:uc031sdn.1:exon1:c.T67C:p.S23P . . . 0.26344085 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.301 . @ . . . . . 1 0.339 . . 372.0 . . . . . . . . . . -0.9130 -1.101 -0.913 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.156 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . D 0.942 0.443 . . 37 . 0.116 . . 0.276 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.140 . . . . . . . 0.280 . HET . . . . . . . . . . . . . . . . ENST00000506151 0.36 0.36 . 0.280000 . . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 0.280000 . . 1.0E-237 0.018 0.193 . 0.090 0.021 . 0.348 . 0.270 0.373 0.062 . . . . . 1 1538 10 1/0 0,184,238 +. 4 9259924 C A - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution synonymous exon GRCh37 9259924 9259924 Chr4(GRCh37):g.9259924C>A 75 75 NM_001256861.1:c.75C>A p.Pro25= p.Pro25Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion C A C>A 0.000 -2.700 P Pro CCC 0.328 P Pro CCA 0.274 25 214 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.C75A:p.P25P USP17L11:uc031sdn.1:exon1:c.C75A:p.P25P . . . 0.22055137 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 399.0 . . . . . . . . . . -0.9348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,244 +. 4 9260008 T C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution synonymous exon GRCh37 9260008 9260008 Chr4(GRCh37):g.9260008T>C 159 159 NM_001256861.1:c.159T>C p.Asp53= p.Asp53Asp 1 transition T C T>C 0.409 -0.037 D Asp GAT 0.461 D Asp GAC 0.539 53 206 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.T159C:p.D53D USP17L11:uc031sdn.1:exon1:c.T159C:p.D53D . . . 0.17291667 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 480.0 . . . . . . . . . . -0.1554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,165,255 +. 4 9260293 A T - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution synonymous exon GRCh37 9260293 9260293 Chr4(GRCh37):g.9260293A>T 444 444 NM_001256861.1:c.444A>T p.Ala148= p.Ala148Ala 1 transversion A T A>T 0.252 -0.602 A Ala GCA 0.226 A Ala GCT 0.263 148 190 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.A444T:p.A148A USP17L11:uc031sdn.1:exon1:c.A444T:p.A148A . . . 0.13448276 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 290.0 . . . . . . . . . . -0.4010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +. 4 9260397 T C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9260397 9260397 Chr4(GRCh37):g.9260397T>C 548 548 NM_001256861.1:c.548T>C p.Val183Ala p.Val183Ala 1 transition T C T>C 0.000 0.367 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 273.26 0.00 Tolerated 0.8 II.56 169 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.T548C:p.V183A USP17L11:uc031sdn.1:exon1:c.T548C:p.V183A . . . 0.10806175 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.014 . . 583.0 . . . . . . . . . . -0.9780 -1.106 -0.978 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . D 0.952 0.502 . . 37 . 0.136 . . 0.239 . . . 0.217 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.010 . . . . . . . 0.132 . LowAF . . . . . . . . . . . . . . . . ENST00000506151 0.36 0.36 . 1.000000 . . . . . . 0.084 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 1.000000 . . 1.0E-169 0.002 0.151 . 0.083 0.003 . 0.230 . 0.270 0.373 0.615 . . . . . 1 1538 10 1/0 0,151,255 +. 4 9260940 G C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9260940 9260940 Chr4(GRCh37):g.9260940G>C 1091 1091 NM_001256861.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 228 4 34 0 12 0 48 128 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 106 Genomes transversion G C G>C 0.717 -0.117 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.53 144 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.G1091C:p.S364T USP17L11:uc031sdn.1:exon1:c.G1091C:p.S364T . . . 0.3432836 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.484 . @ . . . . . 1 0.306 . . 134.0 . . . . . . . . . . -0.5264 -0.708 -0.526 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.153 @ . . . 0.37 0.12 182 ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.912 0.311 . . 37 . 0.298 . . 0.156 . . . 0.394 0.191 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.329 . . . . . . . 0.178 . HET . . . . . . . . . . . . . . . . ENST00000506151 0.36 0.36 . 0.060000 . . . . . . 0.104 . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . 0.246 . 0.443 0.443000 . . 0.060000 . . 1.0E-144 0.897 0.311 . 0.163 0.353 . 0.161 . 0.040 0.443 0.562 . . . . . 1 1538 10 1/0 0,248,255 +. 4 9261083 C T - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9261083 9261083 Chr4(GRCh37):g.9261083C>T 1234 1234 NM_001256861.1:c.1234C>T p.His412Tyr p.His412Tyr 1 transition C T C>T 0.008 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 176 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.C1234T:p.H412Y USP17L11:uc031sdn.1:exon1:c.C1234T:p.H412Y . . . 0.10493827 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.297 . . 162.0 . . . . . . . . . . -0.9392 -1.125 -0.939 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.989 0.859 . . 37 . 0.247 . . 0.235 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.393 . . . . . . . 0.137 . LowAF . . . . . . . . . . . . . . . . ENST00000506151 . . . 0.090000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.064 0.064000 . . 0.090000 . . 1.0E-176 0.011 0.184 . 0.146 0.113 . 0.140 . 0.163 0.064 0.057 . . . . . 1 1538 10 1/0 0,206,255 +. 4 9261139 G C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9261139 9261139 Chr4(GRCh37):g.9261139G>C 1290 1290 NM_001256861.1:c.1290G>C p.Gln430His p.Gln430His 1 transversion G C G>C 0.000 -0.440 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 231 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.G1290C:p.Q430H USP17L11:uc031sdn.1:exon1:c.G1290C:p.Q430H . . . 0.24398625 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.249 . @ . . . . . 1 0.350 . . 291.0 . . . . . . . . . . -0.9133 -1.154 -0.913 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.970 0.650 . . 37 . 0.333 . . 0.319 . . . 0.331 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.481 . . . . . . . 0.178 . HET . . . . . . . . . . . . . . . . ENST00000506151 0.36 -0.72 . 0.460000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.463 -0.463000 . . 0.460000 . . 1.0E-231 0.047 0.211 . 0.155 0.736 . 0.058 . 0.030 -0.463 -0.219 . . . . . 1 1538 10 1/0 0,192,250 +. 4 9261682 G T - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution downstream GRCh37 9261682 9261682 Chr4(GRCh37):g.9261682G>T *240 *240 NM_001256861.1:c.*240G>T p.? p.? 1 transversion G T G>T 0.110 0.044 210 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . . . . . . . . . -0.3926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs868182586 4 9261741 T C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution downstream GRCh37 9261741 9261741 Chr4(GRCh37):g.9261741T>C *299 *299 NM_001256861.1:c.*299T>C p.? p.? 1 rs868182586 no no 0 0.000000 0 transition T C T>C 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41304347 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . . . . . . . . . -0.4208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9264664 T C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9264664 9264664 Chr4(GRCh37):g.9264664T>C 67 67 NM_001256862.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 transition T C T>C 0.000 -0.037 S Ser TCT 0.185 P Pro CCT 0.283 23 16 6 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.2 II.60 249 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.T67C:p.S23P USP17L12:uc031sdo.1:exon1:c.T67C:p.S23P . . . 0.3043478 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.113 . @ . . . . . 1 0.110 . . 69.0 . . . . . . . . . . -0.8264 -1.023 -0.826 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.154 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . D 0.926 0.365 . . 37 . 0.136 . . 0.282 . . . 0.510 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.149 . . . . . . . 0.235 . HET . . . . . . . . . . . . . . . . ENST00000506414 0.36 0.36 . 0.280000 . . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 0.280000 . . 1.0E-249 0.007 0.175 . 0.135 0.191 . 0.217 . 0.270 0.373 0.062 . . . . . 1 1538 10 1/0 0,255,255 +. 4 9264672 C A - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9264672 9264672 Chr4(GRCh37):g.9264672C>A 75 75 NM_001256862.1:c.75C>A p.Pro25= p.Pro25Pro 1 transversion C A C>A 0.000 -2.619 P Pro CCC 0.328 P Pro CCA 0.274 25 179 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C75A:p.P25P USP17L12:uc031sdo.1:exon1:c.C75A:p.P25P . . . 0.112676054 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . -0.9307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 4 9264682 T G - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9264682 9264682 Chr4(GRCh37):g.9264682T>G 85 85 NM_001256862.1:c.85T>G p.Phe29Val p.Phe29Val 1 transversion T G T>G 0.000 -0.763 F Phe TTT 0.454 V Val GTT 0.178 29 16 3 Western lowland gorilla 0 -1 -2 0 0 5.II 5.IX 132 84 50 C0 353.86 0.00 Tolerated 0.35 II.60 178 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.T85G:p.F29V USP17L12:uc031sdo.1:exon1:c.T85G:p.F29V . . . 0.10958904 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.055 . @ . . . . . 1 0.067 . . 73.0 . . . . . . . . . . -0.9274 -1.156 -0.927 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.109 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.006 . . . . D 0.949 0.486 . . 37 . 0.095 . . 0.184 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.073 . . . . . . . 0.140 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 -0.72 . 0.160000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.840 -0.840000 . . 0.160000 . . 1.0E-178 0.000 0.063 . 0.117 0.195 . 0.060 . 0.032 -0.840 0.062 . . . . . 1 1538 10 1/0 0,240,255 +. 4 9264698 G A - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9264698 9264698 Chr4(GRCh37):g.9264698G>A 101 101 NM_001256862.1:c.101G>A p.Arg34Gln p.Arg34Gln 1 transition G A G>A 0.039 -0.763 R Arg CGG 0.207 Q Gln CAG 0.744 34 16 4 C. elegans 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.48 II.75 179 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G101A:p.R34Q USP17L12:uc031sdo.1:exon1:c.G101A:p.R34Q . . . 0.112676054 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.264 . . 71.0 . . . . . . . . . . -1.0981 -1.287 -1.098 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.114 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.006 . . . . D 0.940 0.430 . . 37 . 0.055 . . 0.234 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.163 . . . . . . . 0.075 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 -0.72 . 0.270000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.801 -0.801000 . . 0.270000 . . 1.0E-179 0.000 0.063 . 0.062 0.232 . 0.021 . 0.004 -0.801 0.060 . . . . . 1 1538 10 1/0 0,242,255 +. 4 9264701 C G - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9264701 9264701 Chr4(GRCh37):g.9264701C>G 104 104 NM_001256862.1:c.104C>G p.Thr35Ser p.Thr35Ser 1 transversion C G C>G 0.039 -0.602 T Thr ACT 0.243 S Ser AGT 0.149 35 16 3 Western lowland gorilla 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.93 II.75 181 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C104G:p.T35S USP17L12:uc031sdo.1:exon1:c.C104G:p.T35S . . . 0.11594203 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.065 . . 69.0 . . . . . . . . . . -1.0853 -1.281 -1.085 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.112 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.011 . . . . D 0.950 0.493 . . 37 . 0.067 . . 0.240 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.010 . . . . . . . 0.017 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 -0.72 . 0.770000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.463 -0.463000 . . 0.770000 . . 1.0E-181 0.012 0.185 . 0.095 0.233 . 0.075 . 0.028 -0.463 0.057 . . . . . 1 1538 10 1/0 0,243,255 +. 4 9264756 T C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9264756 9264756 Chr4(GRCh37):g.9264756T>C 159 159 NM_001256862.1:c.159T>C p.Asp53= p.Asp53Asp 1 transition T C T>C 0.157 -0.037 D Asp GAT 0.461 D Asp GAC 0.539 53 215 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.T159C:p.D53D USP17L12:uc031sdo.1:exon1:c.T159C:p.D53D . . . 0.2 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.1613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 4 9264882 G A - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9264882 9264882 Chr4(GRCh37):g.9264882G>A 285 285 NM_001256862.1:c.285G>A p.Leu95= p.Leu95Leu 1 transition G A G>A 0.992 0.770 L Leu TTG 0.127 L Leu TTA 0.073 95 184 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G285A:p.L95L USP17L12:uc031sdo.1:exon1:c.G285A:p.L95L . . . 0.121212125 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . 0.1272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +. 4 9264978 G T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9264978 9264978 Chr4(GRCh37):g.9264978G>T 381 381 NM_001256862.1:c.381G>T p.Thr127= p.Thr127Thr 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion G T G>T 0.969 -2.619 T Thr ACG 0.116 T Thr ACT 0.243 127 199 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G381T:p.T127T USP17L12:uc031sdo.1:exon1:c.G381T:p.T127T . . . 0.15566038 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 212.0 . . . . . . . . . . -0.9558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,255 +. 4 9265034 C A - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution stop gain exon GRCh37 9265034 9265034 Chr4(GRCh37):g.9265034C>A 437 437 NM_001256862.1:c.437C>A p.Ser146* p.Ser146* 1 transversion C A C>A 0.748 0.205 S Ser TCA 0.148 * * TAA 0.277 146 181 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C437A:p.S146X USP17L12:uc031sdo.1:exon1:c.C437A:p.S146X . . . 0.114503816 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.946 . @ . . . . . 0 0.297 . . 262.0 . . . . . . . . . . -0.0171 -0.468 -0.017 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.071 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 0.36 . 0.120000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.443 0.443000 . . 0.120000 . . 1.0E-181 0.000 0.063 . 0.150 0.004 . 0.095 . 0.268 0.443 -0.269 . . . . . 1 1538 10 1/0 0,186,255 +. 4 9265041 A T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9265041 9265041 Chr4(GRCh37):g.9265041A>T 444 444 NM_001256862.1:c.444A>T p.Ala148= p.Ala148Ala 1 transversion A T A>T 0.551 -0.602 A Ala GCA 0.226 A Ala GCT 0.263 148 192 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.A444T:p.A148A USP17L12:uc031sdo.1:exon1:c.A444T:p.A148A . . . 0.13821138 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . -0.3912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,191,255 +. 4 9265145 T C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265145 9265145 Chr4(GRCh37):g.9265145T>C 548 548 NM_001256862.1:c.548T>C p.Val183Ala p.Val183Ala 1 transition T C T>C 0.000 0.367 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 283.42 0.00 Tolerated 0.51 II.56 180 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.T548C:p.V183A USP17L12:uc031sdo.1:exon1:c.T548C:p.V183A . . . 0.11281071 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.017 . . 523.0 . . . . . . . . . . -0.9968 -1.178 -0.997 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . D 0.952 0.503 . . 37 . 0.174 . . 0.180 . . . 0.209 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.010 . . . . . . . 0.055 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 0.36 . 1.000000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 1.000000 . . 1.0E-180 0.000 0.063 . 0.074 0.003 . 0.068 . 0.270 0.373 0.615 . . . . . 1 1538 10 1/0 0,156,255 +. 4 9265526 C T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265526 9265526 Chr4(GRCh37):g.9265526C>T 929 929 NM_001256862.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 transition C T C>T 0.961 0.205 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.23 II.53 224 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C929T:p.P310L USP17L12:uc031sdo.1:exon1:c.C929T:p.P310L . . . 0.22580644 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.239 . @ . . . . . 1 0.104 . . 93.0 . . . . . . . . . . -1.3714 -1.620 -1.371 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.994 0.913 . . 37 . 0.072 . . 0.193 . . . 0.399 0.248 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.365 . . . . . . . 0.052 . HET . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.110000 . . . . . . 0.038 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.143 -2.143000 . . 0.110000 . . 1.0E-224 0.000 0.063 . 0.147 0.002 . 0.095 . 0.007 -2.143 -2.473 . . . . . 1 1538 10 1/0 0,240,255 +. 4 9265676 C T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265676 9265676 Chr4(GRCh37):g.9265676C>T 1079 1079 NM_001256862.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 transition C T C>T 0.031 -0.844 T Thr ACT 0.243 I Ile ATT 0.356 360 16 8 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.51 II.54 175 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C1079T:p.T360I USP17L12:uc031sdo.1:exon1:c.C1079T:p.T360I . . . 0.10236221 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.163 . @ . . . . . 1 0.146 . . 127.0 . . . . . . . . . . -0.6756 -0.929 -0.676 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.961 0.570 . . 37 . 0.338 . . 0.194 . . . 0.569 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.430 . . . . . . . 0.192 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.060000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.119 0.119000 . . 0.060000 . . 1.0E-175 0.000 0.063 . 0.120 0.035 . 0.039 . 0.268 0.119 -0.632 . . . . . 1 1538 10 1/0 0,216,255 +. 4 9265688 G C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265688 9265688 Chr4(GRCh37):g.9265688G>C 1091 1091 NM_001256862.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 transversion G C G>C 0.756 -0.360 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 171 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G1091C:p.S364T USP17L12:uc031sdo.1:exon1:c.G1091C:p.S364T . . . 0.33027524 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.272 . . 109.0 . . . . . . . . . . -0.5591 -0.743 -0.559 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.942 0.443 . . 37 . 0.278 . . 0.158 . . . 0.419 0.192 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.339 . . . . . . . 0.069 . HET . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.030000 . . . . . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.119 0.119000 . . 0.030000 . . 1.0E-171 0.010 0.182 . 0.158 0.369 . 0.110 . 0.040 0.119 0.562 . . . . . 1 1538 10 1/0 0,251,255 +. 4 9265764 A G - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9265764 9265764 Chr4(GRCh37):g.9265764A>G 1167 1167 NM_001256862.1:c.1167A>G p.Arg389= p.Arg389Arg 1 transition A G A>G 0.898 -1.732 R Arg AGA 0.205 R Arg AGG 0.207 389 111 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.A1167G:p.R389R USP17L12:uc031sdo.1:exon1:c.A1167G:p.R389R . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.6584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 4 9265831 C T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265831 9265831 Chr4(GRCh37):g.9265831C>T 1234 1234 NM_001256862.1:c.1234C>T p.His412Tyr p.His412Tyr 1 transition C T C>T 0.268 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 2 Macaque 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.12 II.86 202 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C1234T:p.H412Y USP17L12:uc031sdo.1:exon1:c.C1234T:p.H412Y . . . 0.16504854 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.262 . . 103.0 . . . . . . . . . . -0.8969 -1.074 -0.897 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.987 0.836 . . 37 . 0.253 . . 0.278 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.395 . . . . . . . 0.024 . HET . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.040000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.064 0.064000 . . 0.040000 . . 1.0E-202 0.208 0.242 . 0.146 0.115 . 0.140 . 0.163 0.064 0.057 . . . . . 1 1538 10 1/0 0,231,255 +. 4 9265887 G C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265887 9265887 Chr4(GRCh37):g.9265887G>C 1290 1290 NM_001256862.1:c.1290G>C p.Gln430His p.Gln430His 1 transversion G C G>C 0.102 0.125 Q Gln CAG 0.744 H His CAC 0.587 430 16 6 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.86 235 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G1290C:p.Q430H USP17L12:uc031sdo.1:exon1:c.G1290C:p.Q430H . . . 0.25698325 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.284 . @ . . . . . 1 0.381 . . 179.0 . . . . . . . . . . -0.7531 -0.961 -0.753 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.988 0.837 . . 37 . 0.353 . . 0.313 . . . 0.331 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.496 . . . . . . . 0.039 . HET . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.450000 . . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.119 0.119000 . . 0.450000 . . 1.0E-235 0.306 0.252 . 0.155 0.736 . 0.061 . 0.030 0.119 -0.219 . . . . . 1 1538 10 1/0 0,215,255 +. 4 9266489 T C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution downstream GRCh37 9266489 9266489 Chr4(GRCh37):g.9266489T>C *299 *299 NM_001256862.1:c.*299T>C p.? p.? 1 transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.59375 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . . . . . . . . . -0.4195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9269411 T C - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution missense exon GRCh37 9269411 9269411 Chr4(GRCh37):g.9269411T>C 67 67 NM_001256863.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 12 0 4 0 2 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3412 Exomes transition T C T>C 0.000 -0.037 S Ser TCT 0.185 P Pro CCT 0.283 23 16 6 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.13 II.58 227 PASS . . . . . . . . . . . ENSG00000248933:ENST00000511280:exon1:c.T67C:p.S23P USP17L20:uc031sdp.1:exon1:c.T67C:p.S23P . . . 0.23160763 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.318 . . 367.0 . . . . . . . . . . -0.6267 -0.863 -0.627 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.157 . . exonic exonic exonic . . 0.151 @ . . . . . . ENSG00000248933 USP17L20 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . T 0.033 0.002 . . 37 . 0.195 . . 0.282 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.014 . . 0 0 0 0 0 0 . 0.670 . . 0.566 . . . . . . 2 0.143 . . . . . . . 0.225 . HET . . . . . . . . . . . . . . . . ENST00000511280 0.337 0.337 . 0.280000 D6RA61 . . . . . 0.031 . . . . 0 0 . 0 . 0 0 . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 0.280000 . . 1.0000000000000001E-227 0.049 0.212 . 0.114 0.204 . 0.335 . 0.270 0.373 0.062 . . . . . 1 1538 10 1/0 0,181,243 +. 4 9270435 G C - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution missense exon GRCh37 9270435 9270435 Chr4(GRCh37):g.9270435G>C 1091 1091 NM_001256863.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 0.002194 0.011662 0.003106 0.000000 0.000000 0.000000 0.000594 0.002070 0.000000 0.011662 15 8 1 0 0 0 2 4 0 6838 686 322 102 146 0 3366 1932 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 8 1 0 0 0 2 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.929 0.448 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.4 II.53 123 PASS . . . . . . . . . . . ENSG00000248933:ENST00000511280:exon1:c.G1091C:p.S364T USP17L20:uc031sdp.1:exon1:c.G1091C:p.S364T . . . 0.118694365 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.523 . @ . . . . . 1 0.306 . . 337.0 . . . . . . . . . . -0.6709 -0.777 -0.671 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.151 @ . . . 0.4 0.26 182 ENSG00000248933 USP17L20 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . T 0.046 0.002 . . 37 . 0.267 . . 0.257 . . . 0.424 0.216 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.279 . . 0.358 . . . . . . 2 0.330 . . . . . . . 0.069 . LowAF . . . . . . . . . . . . . . . . ENST00000511280 0.337 0.337 . 0.060000 D6RA61 . . . . . 0.206 . . . . 0 0 0 0 . 0 . . 0.0117 0.0022 0.0031 0 0 0.0021 0.0006 0 . . 0.246 . 0.444 0.444000 . . 0.060000 . . 1.0E-123 0.997 0.399 . 0.161 0.353 . 0.148 . 0.040 0.444 0.562 . . . rs62411732 rs62411732 1 1538 10 1/0 0,179,255 +. 4 9270578 C T - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution missense exon GRCh37 9270578 9270578 Chr4(GRCh37):g.9270578C>T 1234 1234 NM_001256863.1:c.1234C>T p.His412Tyr p.His412Tyr 1 0.002709 0.001741 0.012376 0.000000 0.005929 0.000000 0.002380 0.002622 0.003676 0.012376 41 5 5 0 3 0 19 7 2 15136 2872 404 158 506 0 7982 2670 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 5 5 0 3 0 19 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.2 II.87 194 PASS . . . . . . . . . . . ENSG00000248933:ENST00000511280:exon1:c.C1234T:p.H412Y USP17L20:uc031sdp.1:exon1:c.C1234T:p.H412Y . . . 0.1418919 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.270 . . 148.0 . . . . . . . . . . -0.9145 -1.114 -0.915 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.28 0.12 182 ENSG00000248933 USP17L20 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . T 0.060 0.003 . . 37 . 0.256 . . 0.158 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.504 . . 0.447 . . . . . . 2 0.395 . . . . . . . 0.026 . LowAF . . . . . . . . . . . . . . . . ENST00000511280 . . . 0.390000 D6RA61 . . . . . 0.007 . . . . . . . . . . . . 0.0017 0.0027 0.0124 0 0.0059 0.0026 0.0024 0.0037 . . 0.428 . 0.064 0.064000 . . 0.390000 . . 1.0E-194 0.027 0.200 . 0.145 0.113 . 0.076 . 0.163 0.064 0.057 . . . . . 1 1538 10 1/0 0,214,255 +. 4 9271177 G T - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution downstream GRCh37 9271177 9271177 Chr4(GRCh37):g.9271177G>T *240 *240 NM_001256863.1:c.*240G>T p.? p.? 1 transversion G T G>T 0.110 0.044 190 PASS . . . . . . . . . . . . . . . . 0.13559322 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 59.0 . . . . . . . . . . -0.3924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000248933 USP17L20 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 4 9271236 T C - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution downstream GRCh37 9271236 9271236 Chr4(GRCh37):g.9271236T>C *299 *299 NM_001256863.1:c.*299T>C p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4318182 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . . . . . . . . . -0.4212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.38 0.08 182 ENSG00000248933 USP17L20 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242327.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242326.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242328.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242330.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242331.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242332.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001256867.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs148731487 4 9327334 A T - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242327.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242326.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242328.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242330.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242331.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242332.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001256867.1:c.444A>T p.Ala148= p.Ala148Ala 1 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs62411702 4 9327439 A G - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242327.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242326.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242328.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242330.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242331.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242332.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001256867.1:c.549A>G p.Val183= p.Val183Val 1 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs150869171 4 9327819 C T - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242327.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242326.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242328.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242330.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242331.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242332.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001256867.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +. 4 9327969 C T - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242327.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242326.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242328.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242330.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242331.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242332.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001256867.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +rs145657146 4 9327981 G C - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242327.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242326.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242328.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242330.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242331.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242332.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001256867.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs62411703 4 9328087 C A - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242327.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242326.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242328.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242330.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242331.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242332.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001256867.1:c.1197C>A p.Thr399= p.Thr399Thr 1 rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs202177723 4 9328124 C T - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242327.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242326.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242328.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242330.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242331.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242332.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001256867.1:c.1234C>T p.His412Tyr p.His412Tyr 1 rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs201401878 4 9328180 G C - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242327.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242326.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242328.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242330.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242331.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242332.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001256867.1:c.1290G>C p.Gln430His p.Gln430His 1 rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +. (chr4:9331608 C/A) 4 9331608 C A Not on a known gene +. (chr4:9331703 T/C) 4 9331703 T C Not on a known gene +. (chr4:9331711 C/A) 4 9331711 C A Not on a known gene +. (chr4:9331795 T/C) 4 9331795 T C Not on a known gene +. (chr4:9332080 A/T) 4 9332080 A T Not on a known gene +. (chr4:9332185 A/G) 4 9332185 A G Not on a known gene +rs201847703 (chr4:9332565 C/T) 4 9332565 C T Not on a known gene +rs148982482 (chr4:9332727 G/C) 4 9332727 G C Not on a known gene +rs148171192 (chr4:9332870 C/T) 4 9332870 C T Not on a known gene +rs142001065 (chr4:9332926 G/C) 4 9332926 G C Not on a known gene +rs1971253 (chr4:9333528 T/C) 4 9333528 T C Not on a known gene +. (chr4:9336827 A/T) 4 9336827 A T Not on a known gene +rs201343622 (chr4:9337312 C/T) 4 9337312 C T Not on a known gene +. (chr4:9337462 C/T) 4 9337462 C T Not on a known gene +rs200371067 (chr4:9337474 G/C) 4 9337474 G C Not on a known gene +. (chr4:9337559 A/T) 4 9337559 A T Not on a known gene +. (chr4:9337580 C/A) 4 9337580 C A Not on a known gene +rs201590862 (chr4:9337617 C/T) 4 9337617 C T Not on a known gene +. (chr4:9337645 A/G) 4 9337645 A G Not on a known gene +rs200663028 (chr4:9337673 G/C) 4 9337673 G C Not on a known gene +. (chr4:9338275 T/C) 4 9338275 T C Not on a known gene +. 4 9341153 A G - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9341153 9341153 Chr4(GRCh37):g.9341153A>G 25 25 NM_001242329.1:c.25A>G p.Arg9Gly p.Arg9Gly 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition A G A>G 0.055 -1.005 R Arg AGA 0.205 G Gly GGA 0.246 9 14 2 C. elegans -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Tolerated 0.4 II.84 111 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.A25G:p.R9G USP17L24:uc021xlo.1:exon1:c.A25G:p.R9G . . . 1.0 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.077 . . 5.0 . . . . . . . . . . -1.3292 -1.424 -1.329 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.107 . . exonic exonic exonic . . 0.148 @ . . . . . . ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.010 . . . . D 0.989 0.851 . . 37 . 0.040 . . 0.277 . . . 0.016 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.010 . . . . . . . 0.069 . HOM 1 . . . . . . . . . . . . . . . ENST00000507227 0.256 0.256 . 1.000000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.108 -1.108000 . . 1.000000 . . 1.0E-111 0.768 0.291 . 0.043 0.061 . 0.150 . 0.062 -1.108 -2.067 . . . . . 1 1538 255 1.I 0,0,255 +. 4 9341195 T C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9341195 9341195 Chr4(GRCh37):g.9341195T>C 67 67 NM_001242329.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.110 0.932 S Ser TCT 0.185 P Pro CCT 0.283 23 14 4 Philippine tarsier -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.28 II.84 247 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.T67C:p.S23P USP17L24:uc021xlo.1:exon1:c.T67C:p.S23P . . . 0.29807693 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.131 . . 104.0 . . . . . . . . . . -0.8026 -1.010 -0.803 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.156 . . exonic exonic exonic . . 0.148 @ . . . . . . ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . D 0.913 0.313 . . 37 . 0.138 . . 0.283 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.156 . . . . . . . 0.263 . HET 0.26 . . . . . . . . . . . . . . . ENST00000507227 0.256 0.256 . 0.250000 . . . . . . 0.028 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.324 0.324000 . . 0.250000 . . 1.0E-247 0.010 0.182 . 0.074 0.020 . 0.247 . 0.277 0.324 0.062 . . . . . 1 1538 10 1/0 0,240,255 +. 4 9341203 C A - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution synonymous exon GRCh37 9341203 9341203 Chr4(GRCh37):g.9341203C>A 75 75 NM_001242329.1:c.75C>A p.Pro25= p.Pro25Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.016 -1.732 P Pro CCC 0.328 P Pro CCA 0.274 25 231 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.C75A:p.P25P USP17L24:uc021xlo.1:exon1:c.C75A:p.P25P . . . 0.24590164 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.7392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.15 182 ENSG00000227140 USP17L24 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +. 4 9341287 T C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution synonymous exon GRCh37 9341287 9341287 Chr4(GRCh37):g.9341287T>C 159 159 NM_001242329.1:c.159T>C p.Asp53= p.Asp53Asp 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 -1.005 D Asp GAT 0.461 D Asp GAC 0.539 53 213 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.T159C:p.D53D USP17L24:uc021xlo.1:exon1:c.T159C:p.D53D . . . 0.19186047 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 344.0 . . . . . . . . . . -0.3242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227140 USP17L24 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,181,255 +. 4 9341572 A T - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution synonymous exon GRCh37 9341572 9341572 Chr4(GRCh37):g.9341572A>T 444 444 NM_001242329.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.953 0.286 A Ala GCA 0.226 A Ala GCT 0.263 148 175 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.A444T:p.A148A USP17L24:uc021xlo.1:exon1:c.A444T:p.A148A . . . 0.103658535 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 328.0 . . . . . . . . . . -0.2381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227140 USP17L24 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 8 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +. 4 9342207 C T - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9342207 9342207 Chr4(GRCh37):g.9342207C>T 1079 1079 NM_001242329.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.213 0.367 T Thr ACT 0.243 I Ile ATT 0.356 360 14 8 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.43 II.66 183 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.C1079T:p.T360I USP17L24:uc021xlo.1:exon1:c.C1079T:p.T360I . . . 0.119617224 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.085 . @ . . . . . 1 0.131 . . 209.0 . . . . . . . . . . -0.4069 -0.621 -0.407 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.160 @ . . . . . . ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.925 0.359 . . 37 . 0.361 . . 0.202 . . . 0.334 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.430 . . . . . . . 0.222 . LowAF 0.1 . . . . . . . . . . . . . . . ENST00000507227 0.487 0.487 . 0.060000 . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.542 0.542000 . . 0.060000 . . 1.0E-183 0.014 0.188 . 0.083 0.014 . 0.147 . 0.275 0.542 -0.632 . . . . . 1 1538 10 1/0 0,196,255 +rs199855117 4 9342219 G C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9342219 9342219 Chr4(GRCh37):g.9342219G>C 1091 1091 NM_001242329.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs199855117 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 11113 Exomes transversion G C G>C 0.992 0.367 S Ser AGT 0.149 T Thr ACT 0.243 364 14 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 254.51 0.00 Tolerated 0.26 II.66 158 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.G1091C:p.S364T USP17L24:uc021xlo.1:exon1:c.G1091C:p.S364T . . . 0.2722513 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.369 . @ . . . . . 1 0.242 . . 191.0 . . . . . . . . . . -0.5096 -0.686 -0.510 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.160 @ . . . 0.45 0.24 182 ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.901 0.275 . . 37 . 0.273 . . 0.150 . . . 0.370 0.217 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.335 . . . . . . . 0.153 . HET 0.05 rs199855117 . . . . . . . . . . . . . . ENST00000507227 0.487 0.487 . 0.060000 . . . . . . 0.187 . . . . 0 . . . . 0 . . . . . . . . . . . . 0.246 . 0.542 0.542000 . . 0.060000 . . 1.0E-158 0.967 0.338 . 0.108 0.355 . 0.194 . 0.056 0.542 0.562 . . . rs199855117 rs199855117 1 1538 10 1/0 0,221,255 +rs200006135 4 9342418 G C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9342418 9342418 Chr4(GRCh37):g.9342418G>C 1290 1290 NM_001242329.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs200006135 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion G C G>C 0.000 -0.279 Q Gln CAG 0.744 H His CAC 0.587 430 14 6 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.87 255 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.G1290C:p.Q430H USP17L24:uc021xlo.1:exon1:c.G1290C:p.Q430H . . . 0.3478261 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.137 . @ . . . . . 1 0.363 . . 69.0 . . . . . . . . . . -0.8513 -1.097 -0.851 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.110 @ . . . 0.38 0.22 182 ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.969 0.637 . . 37 . 0.342 . . 0.319 . . . 0.311 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.496 . . . . . . . 0.077 . HET . rs200006135 . . . . . . . . . . . . . . ENST00000507227 0.487 -0.608 . 0.420000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.315 -0.315000 . . 0.420000 . . 1.0E-255 0.046 0.210 . 0.043 0.736 . 0.059 . 0.049 -0.315 -0.219 . . . rs200006135 rs200006135 1 1538 10 1/0 0,255,255 +. 4 9343020 T C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution downstream GRCh37 9343020 9343020 Chr4(GRCh37):g.9343020T>C *299 *299 NM_001242329.1:c.*299T>C p.? p.? 1 transition T C T>C 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.425 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . . . . . . . . . -0.3460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000227140 USP17L24 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr4:9345845 C/A) 4 9345845 C A Not on a known gene +. (chr4:9345898 A/G) 4 9345898 A G Not on a known gene +. (chr4:9345940 T/C) 4 9345940 T C Not on a known gene +. (chr4:9345948 C/A) 4 9345948 C A Not on a known gene +. (chr4:9346032 T/C) 4 9346032 T C Not on a known gene +. (chr4:9346317 A/T) 4 9346317 A T Not on a known gene +. (chr4:9346356 C/T) 4 9346356 C T Not on a known gene +rs199688638 (chr4:9346964 G/C) 4 9346964 G C Not on a known gene +rs200331150 (chr4:9347107 C/T) 4 9347107 C T Not on a known gene +. (chr4:9347135 A/G) 4 9347135 A G Not on a known gene +rs199503619 (chr4:9347163 G/C) 4 9347163 G C Not on a known gene +. (chr4:9350590 C/A) 4 9350590 C A Not on a known gene +. (chr4:9350643 A/G) 4 9350643 A G Not on a known gene +. (chr4:9350685 T/C) 4 9350685 T C Not on a known gene +. (chr4:9350693 C/A) 4 9350693 C A Not on a known gene +. (chr4:9350777 T/C) 4 9350777 T C Not on a known gene +. (chr4:9351062 A/T) 4 9351062 A T Not on a known gene +rs201128121 (chr4:9351547 C/T) 4 9351547 C T Not on a known gene +. (chr4:9351697 C/T) 4 9351697 C T Not on a known gene +rs199873925 (chr4:9351709 G/C) 4 9351709 G C Not on a known gene +. (chr4:9355430 T/C) 4 9355430 T C Not on a known gene +. (chr4:9355522 T/C) 4 9355522 T C Not on a known gene +. (chr4:9355912 A/G) 4 9355912 A G Not on a known gene +rs199524560 (chr4:9356454 G/C) 4 9356454 G C Not on a known gene +. 4 9360080 C A - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution upstream GRCh37 9360080 9360080 Chr4(GRCh37):g.9360080C>A -28 -28 NR_046416.1:n.-28C>A p.? p.? 1 607011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 302 0 150 0 32 102 8 0 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 99 Exomes transversion C A C>A 0.031 -1.489 199 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . . . . . . . . . -0.6388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . rs79488718 rs79488718 1 1538 10 1/0 0,255,255 +. 4 9360175 T C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9360175 9360175 Chr4(GRCh37):g.9360175T>C 68 68 NR_046416.1:n.68T>C 1 607011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1476 6 504 4 250 460 190 8 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 52 Exomes transition T C T>C 0.000 1.174 245 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.T67C:p.S23P . . . 0.29126215 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 103.0 . . . . . . . . . . -0.2101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.45 0.12 182 ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 4 9360183 C A - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9360183 9360183 Chr4(GRCh37):g.9360183C>A 76 76 NR_046416.1:n.76C>A 1 607011 0.002793 0.000000 0.004132 0.000000 0.004202 0.000000 0.005618 0.000000 0.000000 0.005618 4 0 2 0 1 0 1 0 0 1432 8 484 6 238 452 178 8 58 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 53 Exomes transversion C A C>A 0.000 -3.184 220 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.C75A:p.P25P . . . 0.21323529 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.8561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.46 0.07 182 ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0028 0.0041 0 0.0042 0 0.0056 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 4 9360267 T C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9360267 9360267 Chr4(GRCh37):g.9360267T>C 160 160 NR_046416.1:n.160T>C 1 607011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3910 80 780 54 614 876 1332 58 116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Exomes transition T C T>C 0.000 -0.763 204 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.T159C:p.D53D . . . 0.16949153 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 354.0 . . . . . . . . . . -0.0961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,178,255 +. 4 9360552 A T - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9360552 9360552 Chr4(GRCh37):g.9360552A>T 445 445 NR_046416.1:n.445A>T 1 607011 0.000537 0.000000 0.000000 0.000000 0.003044 0.000000 0.000330 0.000000 0.000000 0.003044 5 0 0 0 4 0 1 0 0 9312 214 2518 168 1314 1654 3026 142 276 0.400000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 116 Exomes transversion A T A>T 0.055 -0.602 189 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.A444T:p.A148A . . . 0.13180515 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 349.0 . . . . . . . . . . -0.3781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.56 0.21 182 ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0 0.0030 0 0.0003 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +rs76668291 4 9361045 T G - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361045 9361045 Chr4(GRCh37):g.9361045T>G 938 938 NR_046416.1:n.938T>G 1 607011 rs76668291 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4526 364 220 42 236 0 2802 678 184 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transversion T G T>G 0.000 0.125 111 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.T937G:p.X313G . . . 1.0 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 12.0 . . . . . . . . . . -0.2888 . . . . . . . . 6.775e-05 . . . . . . . . . . . . . . . . . . . . stoploss . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.6 0.22 182 ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HOM . rs200700157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs76668291 rs200700157 1 1538 255 1.I 0,0,255 +rs762978371 4 9361049 T C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361049 9361049 Chr4(GRCh37):g.9361049T>C 942 942 NR_046416.1:n.942T>C 1 607011 0.000019 0.000978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000978 1 1 0 0 0 0 0 0 0 52024 1022 9544 1630 3194 8294 22366 4776 1198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.039 1.255 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.1583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.57 0.23 182 ENSG00000251694 USP17L9P USP17L9P . uc031sdq.1:c.*2T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HOM . rs201639015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0027 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs76184877 rs201639015 1 1538 255 1.I 0,0,255 +rs62411732 4 9361199 G C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361199 9361199 Chr4(GRCh37):g.9361199G>C 1092 1092 NR_046416.1:n.1092G>C 1 607011 rs62411732 yes no Frequency 1 0.000000 0 0.000048 0.003012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003012 2 2 0 0 0 0 0 0 0 41558 664 7578 1504 2836 7584 16482 3956 954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.039 -0.360 205 PASS . . . . . . . . . . . . . . . . 0.3557126 . . @ 302 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 849.0 . . . . . . . . . . -0.0828 . . . . . . . . 8.539e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.64 0.18 182 ENSG00000251694 USP17L9P USP17L9P . uc031sdq.1:c.*152G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs62411732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0116 0.0009 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs62411732 rs142870324 1 1538 10 1/0 0,160,189 +rs141044478 4 9361342 C T - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361342 9361342 Chr4(GRCh37):g.9361342C>T 1235 1235 NR_046416.1:n.1235C>T 1 607011 rs141044478 no no 0 0.000000 0 0.000220 0.000000 0.000000 0.000000 0.002353 0.000000 0.000000 0.000000 0.000000 0.002353 4 0 0 0 4 0 0 0 0 18214 392 4308 624 1700 3246 6432 1006 506 0.000220 0.000000 0.000000 0.000000 0.002353 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 0.044 161 PASS . . . . . . . . . . . . . . . . 0.118906066 . . @ 100 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 841.0 . . . . . . . . . . -0.3856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.25 0.12 182 ENSG00000251694 USP17L9P USP17L9P . uc031sdq.1:c.*295C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . LowAF . rs141044478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0.0025 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-161 . . . . . . . . . . . . . rs67095153 rs141044478 rs141044478 1 1538 10 1/0 0,137,252 +rs62411704 4 9361398 G C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361398 9361398 Chr4(GRCh37):g.9361398G>C 1291 1291 NR_046416.1:n.1291G>C 1 607011 rs62411704 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11894 282 2708 246 1406 2024 4300 584 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 -0.117 246 PASS . . . . . . . . . . . . . . . . 0.29268292 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 533.0 . . . . . . . . . . -0.3450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.57 0.2 182 ENSG00000251694 USP17L9P USP17L9P . uc031sdq.1:c.*351G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs145274487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . rs145274487 rs145274487 1 1538 10 1/0 0,173,252 +rs9684394 (chr4:9364826 C/A) 4 9364826 C A Not on a known gene +. (chr4:9364921 T/C) 4 9364921 T C Not on a known gene +. (chr4:9364929 C/A) 4 9364929 C A Not on a known gene +. (chr4:9365298 A/T) 4 9365298 A T Not on a known gene +. (chr4:9365337 C/T) 4 9365337 C T Not on a known gene +rs140712318 (chr4:9365403 A/G) 4 9365403 A G Not on a known gene +rs145521455 (chr4:9365945 G/C) 4 9365945 G C Not on a known gene +. (chr4:9366030 A/T) 4 9366030 A T Not on a known gene +rs141564613 4 9369571 C A - USP17L6P 37179 Ubiquitin specific peptidase 17-like family member 6, pseudogene NR_027279.1 1 1197 0 substitution upstream GRCh37 9369571 9369571 Chr4(GRCh37):g.9369571C>A -29 -29 NR_027279.1:n.-29C>A p.? p.? 1 rs141564613 no no 0 0.000000 0 transversion C A C>A 0.047 -1.005 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 35.0 . . . . . . . . . . -0.5526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.67 0.24 182 ENSG00000205946 USP17L6P USP17L6P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141564613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs79488718 rs141564613 1 1538 10 1/0 0,255,255 +rs142309727 4 9369666 T C - USP17L6P 37179 Ubiquitin specific peptidase 17-like family member 6, pseudogene NR_027279.1 1 1197 0 substitution exon GRCh37 9369666 9369666 Chr4(GRCh37):g.9369666T>C 67 67 NR_027279.1:n.67T>C 1 rs142309727 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 1.093 237 PASS . . . . . . . . . . . . USP17L6P:uc011bws.2:exon1:c.T67C:p.S23P . . . 0.26436782 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . -0.2886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.55 0.2 182 ENSG00000205946 USP17L6P USP17L6P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET 0.27 rs142309727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs142309727 rs142309727 1 1538 10 1/0 0,245,255 +rs9684538 4 9369674 C A - USP17L6P 37179 Ubiquitin specific peptidase 17-like family member 6, pseudogene NR_027279.1 1 1197 0 substitution exon GRCh37 9369674 9369674 Chr4(GRCh37):g.9369674C>A 75 75 NR_027279.1:n.75C>A 1 rs9684538 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.000 -2.539 237 PASS . . . . . . . . . . . . USP17L6P:uc011bws.2:exon1:c.C75A:p.P25P . . . 0.26363635 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . . . . . . . . -0.8447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.55 0.14 182 ENSG00000205946 USP17L6P USP17L6P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs9684538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs145971315 rs145971315 1 1538 10 1/0 0,235,255 +. (chr4:9497485 G/A) 4 9497485 G A Not on a known gene +rs145979886 4 13601977 C A - BOD1L1 31792 Biorientation of chromosomes in cell division 1-like 1 NM_148894.2 -1 10542 9156 NP_683692.2 Q8NFC6 substitution missense exon GRCh37 13601977 13601977 Chr4(GRCh37):g.13601977C>A 6547 6547 NM_148894.2:c.6547G>T p.Val2183Phe p.Val2183Phe 10 616746 -1408 5' 86.1807 6.94726 0.952632 V.37 86.1807 6.94726 0.952632 V.37 0 Cryptic Donor Strongly Activated 13601983 0.029647 62.1619 0.818728 0.18882 67.1807 rs145979886 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.000000 0.000000 0.018800 0.002000 0.000000 0.003448 0.000042 0.000058 0.000000 0.019239 0.000260 0.001814 0.012992 0.002478 0.019239 954 1 2 0 363 8 229 335 16 276682 24028 34410 10140 18868 30782 126212 25786 6456 0.000080 0.000000 0.000000 0.000000 0.000530 0.000000 0.000000 0.000465 0.000000 11 0 0 0 5 0 0 6 0 932 1 2 0 353 8 229 323 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 80 transversion G T G>T 0.000 -1.489 V Val GTC 0.240 F Phe TTC 0.546 2183 14 9 Chicken 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Deleterious 0.04 III.82 good 1.531E-1 0.1339 255 PASS . 0.01 . 0.02 0.0026 . 0.0042 . 0.019 0.002 . ENSG00000038219:ENST00000040738:exon10:c.G6547T:p.V2183F . BOD1L1:NM_148894:exon10:c.G6547T:p.V2183F . . 0.48447204 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.217 . @ . . . . . 1 0.326 . . 161.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ttc|V2183F|BOD1L1|mRNA|CODING|NM_148894|NM_148894.ex.10) . 0.0003 0.0005 . 0.0003 0.0005 . -1.3634 -1.487 -1.363 c . . . . . 3.591e-03 . . . 0 0.0022 0.0002 0.0202 0.0132 0.0006 0.0070 0.0002 0 0.0037 8.917e-05 0.0195 0.0142 0.0024 0.0086 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.083 . . exonic exonic exonic . . 0.013 0.0042 . . . 0.46 0.32 182 ENSG00000038219 BOD1L1 BOD1L1 . . . 1.000 0.517 . 128 0.00196996 64976 107 0.00178375 59986 Likely_benign . 0 . 0.010 . . . . . . . . . 37 . 0.029 . . 0.215 . . . 0.488 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.368 . . 0 0 0 0 0 0 . 0.293 . . 0.236 . . . . . . 0 0.393 . . . . . 0.546 . 0.288 . HET 0.04 rs145979886 0.011 0.007 . . . . . 0.006868131868131868 0.0 0.0 0.022727272727272728 0.002638522427440633 XII.13 0.0 ENST00000040738 V.26 -7.37 . 0.100000 Q8NFC6 . . Name\x3dnsv4239 0.000308 . 0.163 . . . 0 0.0033 5.957e-05 0 0.0193 0.0134 0.0013 0.0022 0.0003 0.0001 0.0049 0 0 0.0185 0.0106 0.0053 0.0041 . . 0.730 . -1.336 -1.336000 . . 0.100000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.030 . 0.024 -1.336 -0.275 0.02 . . rs145979886 rs145979886 1 1538 10 1/0 0,239,255 +rs118191855 4 13604644 C T - BOD1L1 31792 Biorientation of chromosomes in cell division 1-like 1 NM_148894.2 -1 10542 9156 NP_683692.2 Q8NFC6 substitution missense exon GRCh37 13604644 13604644 Chr4(GRCh37):g.13604644C>T 3880 3880 NM_148894.2:c.3880G>A p.Glu1294Lys p.Glu1294Lys 10 616746 2065 3' 93.3947 10.0929 0.984041 8.56369 93.3947 10.0929 0.984041 8.56369 0 Cryptic Acceptor Strongly Activated 13604628 0.91543 0.00052 74.6238 1.39822 0.000635 74.6238 rs118191855 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.003000 0.002000 0.000000 0.002094 0.000042 0.000029 0.000000 0.000424 0.000032 0.001795 0.012799 0.001858 0.012799 580 1 1 0 8 1 227 330 12 276944 24026 34408 10146 18868 30782 126472 25784 6458 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000465 0.000000 6 0 0 0 0 0 0 6 0 568 1 1 0 8 1 227 318 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 96 transition G A G>A 0.024 0.609 E Glu GAA 0.417 K Lys AAA 0.425 1294 14 7 White-tuffed-ear marmoset 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Deleterious 0.04 IV.32 unknown 0.0 0.0 255 PASS . 0.0014 . 0.0017 0.0026 . 0.001 . 0.003 0.002 . ENSG00000038219:ENST00000040738:exon10:c.G3880A:p.E1294K . BOD1L1:NM_148894:exon10:c.G3880A:p.E1294K . . 0.32692307 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.489 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E1294K|BOD1L1|mRNA|CODING|NM_148894|NM_148894.ex.10) . 0.0003 0.0005 . 0.0003 0.0005 . -0.8572 -0.836 -0.857 c . . . . . 2.200e-03 . . . 0 0.0009 0 0.0009 0.0126 0.0006 0.0057 0 0 0.0022 0 0.0008 0.0139 0.0024 0.0072 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.080 . . exonic exonic exonic . . 0.344 0.0010 . . . 0.39 0.4 182 ENSG00000038219 BOD1L1 BOD1L1 . . . 0.999 0.383 . 108 0.00166215 64976 103 0.00171707 59986 Uncertain_significance . 0 . 0.244 . . . . . . . . . 37 . 0.054 . . 0.376 . . . 0.203 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.126 . . 0.121 . . . . . . 0 0.303 . . . . . 0.171 . 0.045 . HET 0.01 rs118191855 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0017482517482517483 0.002638522427440633 V.55 0.0 ENST00000040738 5.VII 3.VIII . 0.200000 Q8NFC6 . . Name\x3dnsv4239 0.000308 . 0.189 . . 3.VIII 0 0.0019 2.979e-05 0 0.0005 0.0132 0.0013 0.0015 3.249e-05 0.0001 0.0039 0 0 0 0.0103 0.0053 0.0041 . . 0.730 . 0.357 0.357000 . . 0.200000 . . 1.0E-255 0.009 0.180 . 0.211 0.039 . 0.292 . 0.130 0.357 -0.048 0.0026 . . rs118191855 rs118191855 1 1538 10 1/0 0,255,255 +rs189416213 4 15055880 T C - CPEB2 21745 Cytoplasmic polyadenylation element binding protein 2 NM_001177382.1 1 6878 3105 NP_001170853.1 substitution intron GRCh37 15055880 15055880 Chr4(GRCh37):g.15055880T>C 2461+39 2461+39 NM_001177382.1:c.2461+39T>C p.? p.? 8 8 610605 39 5' 94.6745 X.23 0.999005 0 94.6745 X.23 0.999005 0 0 rs189416213 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000259 0.000043 0.000000 0.000000 0.000000 0.000000 0.000453 0.000353 0.000335 0.000453 67 1 0 0 0 0 55 9 2 258716 23030 28958 9696 17378 26862 121332 25496 5964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 1 0 0 0 0 55 9 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4405 13001 4 1 5 0.000465116 0.000226963 0.000384438 0.000465116 0.000226963 0.000384438 73 transition T C T>C 0.000 0.367 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5588235 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0002 0.0004 0.0005 0.0002 0.0004 0.0005 . 0.6088 . . . . . . . . 2.683e-04 . . . 9.713e-05 0.0003 0 0 0.0011 0.0005 0.0014 0 0.0001 0.0002 0 0 0.0008 0.0003 0 0 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0002 . . . 0.65 0.23 182 ENSG00000249252 CPEB2 LOC101929095 . . . . . . 30 0.000461709 64976 29 0.000483446 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189416213 . . . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 6.993e-05 0.0003 0 0 0 0.0003 0.0005 0.0002 0 0 0.0003 0 0 0 0.0006 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs189416213 rs189416213 1 1538 10 1/0 0,255,255 +. 4 17817090 A G - NCAPG 24304 Non-SMC condensin I complex, subunit G NM_022346.4 1 4753 3048 NP_071741.2 Q9BPX3 substitution intron GRCh37 17817090 17817090 Chr4(GRCh37):g.17817090A>G 775+109 775+109 NM_022346.4:c.775+109A>G p.? p.? 5 5 606280 109 5' 94.6711 X.63 0.994599 1.14118 94.6711 X.63 0.994599 1.14118 0 transition A G A>G 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5681818 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.1418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000109805 NCAPG NCAPG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv878721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139070230 4 20715142 C G - PACRGL 28442 PARK2 co-regulated like NM_001258345.1 1 2154 747 NP_001245274.1 Q8N7B6 substitution missense exon GRCh37 20715142 20715142 Chr4(GRCh37):g.20715142C>G 589 589 NM_001258345.1:c.589C>G p.Leu197Val p.Leu197Val 7 -21 5' 77.4215 10.0718 0.991836 2.47524 77.4215 10.0718 0.991836 2.47219 0 Parkin co-regulated protein Armadillo-type fold rs139070230 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001871 0.000458 0.000904 0.018624 0.000000 0.000130 0.002133 0.000155 0.001396 0.018624 518 11 31 189 0 4 270 4 9 276906 24028 34310 10148 18868 30768 126576 25760 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 518 11 31 189 0 4 270 4 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8568 4404 12972 32 2 34 0.00372093 0.000453926 0.00261418 0.00372093 0.000453926 0.00261418 188 COSM3696600 Large intestine 0.000448 2231 transversion C G C>G 1.000 0.770 L Leu CTG 0.404 V Val GTG 0.468 197 12 11 Frog 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 35.68 26.34 Tolerated 0.06 III.34 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.56666666 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.679 . @ . . . . . 1 0.791 . . 30.0 . . . 0.0005 0.0026 0.0037 0.0005 0.0026 0.0037 . 0.2071 0.182 0.207 c . . . . . 2.044e-03 . . . 0.0006 0.0023 0.0012 0 0.0003 0.0044 0.0028 0.0001 0.0007 0.0020 0.0012 0 0.0002 0.0034 0.0014 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.714 . . exonic exonic exonic . . 0.331 0.0006 . . . 0.29 0.39 182 ENSG00000163138 PACRGL PACRGL . . . 0.000 0.062 . 140 0.00215464 64976 137 0.00228387 59986 Uncertain_significance . 0 . 0.436 . . . . D 0.761 0.093 . . 37 . 0.782 . . 0.686 . . . 0.803 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.519 . . 0 0 0 0 0 0 . 0.647 . . 0.639 . . . . . . 0 0.721 . . . . . 0.247 . 0.652 . HET 0 rs139070230 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 7.1691 5.35E-4 . V.64 II.95 . 0.030000 . . . Name\x3dnsv829876 0.002614 . 0.484 . . II.95 0.0005 0.0020 0.0009 0.0188 0 0.0001 0.0022 0.0016 0.0001 0.0005 0.0010 0.0024 0.0132 0 0.0003 0.0013 0 . . 0.609 . 0.748 0.748000 . . 0.030000 . . 1.0E-255 0.998 0.411 . 0.625 1.000 . 0.334 . 0.177 0.748 0.871 0.0037 . . rs139070230 rs139070230 1 1538 10 1/0 0,255,255 +. 4 25235722 A C - PI4K2B 18215 Phosphatidylinositol 4-kinase type 2 beta NM_018323.3 1 3601 1446 NP_060793.2 Q8TCG2 substitution 5'UTR GRCh37 25235722 25235722 Chr4(GRCh37):g.25235722A>C -64 -64 NM_018323.3:c.-64A>C p.? p.? 1 612101 -332 5' 79.5234 7.74728 0.92851 10.846 79.5234 7.74728 0.92851 10.846 0 rs953814942 yes no Frequency 1 A 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000288 0.000000 0.000288 2 0 0 0 0 0 1 1 0 30892 8694 834 302 1620 0 14986 3478 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion A C A>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.61904764 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . UTR_5_PRIME(MODIFIER||||PI4K2B|mRNA|CODING|NM_018323|NM_018323.ex.1) . . . . . . . 0.5628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000038210 PI4K2B PI4K2B ENST00000264864:c.-64A>C uc003grk.2:c.-64A>C NM_018323:c.-64A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.474e-05 0 0 0 0.0003 6.673e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs138146690 4 38879759 G C - FAM114A1 25087 Family with sequence similarity 114 member A1 NM_138389.3 1 4138 1692 NP_612398.2 Q8IWE2 substitution missense exon GRCh37 38879759 38879759 Chr4(GRCh37):g.38879759G>C 60 60 NM_138389.3:c.60G>C p.Met20Ile p.Met20Ile 3 68 3' 77.5899 6.25386 0.397067 1.90468 77.5899 6.25386 0.397067 1.78219 0 rs138146690 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000040 0.000042 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000079 11 1 0 0 0 0 10 0 0 277152 24038 34410 10142 18868 30774 126684 25772 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4585064 Bone 0.001757 569 transversion G C G>C 0.559 0.851 M Met ATG 1.000 I Ile ATC 0.481 20 12 7 Chicken 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.14 III.19 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . FAM114A1:NM_138389:exon3:c.G60C:p.M20I . . 0.43209878 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.258 . @ . . . . . 1 0.447 . . 81.0 . . . . . . . . . . -0.3143 -0.254 -0.314 c . . . . . 3.946e-05 . . . 9.63e-05 5.54e-05 0 0 0 9.529e-05 0 0 0 1.892e-05 0 0 0 3.691e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.272 . . exonic exonic exonic . . 0.330 0.0002 . . . 0.26 0.11 182 ENSG00000197712 FAM114A1 FAM114A1 . . . 0.918 0.265 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . T 0.127 0.005 . . 37 . 0.226 . . 0.220 . . . 0.246 0.389 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.692 . . 0 0 0 0 0 0 . 0.158 . . 0.166 . . . . . . 1 0.506 . . . . . 0.174 . 0.211 . HET 0.01 rs138146690 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 V.11 . . 4.VII II.94 . 0.040000 Q8IWE2 . . . . . 0.413 . . II.94 6.534e-05 4.062e-05 0 0 0 0 8.059e-05 0 0 0 3.229e-05 0 0 0 0 6.665e-05 0 . . 0.609 . 0.678 0.678000 . . 0.040000 . . 1.0E-255 0.970 0.340 . 0.352 0.109 . 0.475 . 0.713 0.678 0.917 0.0013 . . rs138146690 rs138146690 1 1538 10 1/0 0,255,255 +rs41547922 4 39297211 C T - RFC1 9969 Replication factor C (activator 1) 1, 145kDa NM_001204747.1 -1 4899 3447 NP_001191676.1 P35251 substitution intron GRCh37 39297211 39297211 Chr4(GRCh37):g.39297211C>T 2957+23 2957+23 NM_001204747.1:c.2957+23G>A p.? p.? 22 22 102579 23 5' 89.9194 X.02 0.949751 5.14236 89.9194 X.02 0.949751 4.80184 0 New Acceptor Site 39297209 7.36261 0.600122 92.3394 rs41547922 yes no Frequency/1000G 2 C 0.000000 0 0.003994 0.000000 0.002000 0.000000 0.008000 0.014400 0.005991 0.001421 0.005984 0.017037 0.000000 0.003483 0.007709 0.004074 0.008847 0.017037 1530 33 171 155 0 90 926 103 52 255396 23220 28574 9098 17376 25842 120124 25284 5878 0.000031 0.000000 0.000070 0.000220 0.000000 0.000000 0.000033 0.000000 0.000000 4 0 1 1 0 0 2 0 0 1522 33 169 153 0 90 922 103 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4400 12925 75 6 81 0.00872093 0.00136178 0.00622789 0.00872093 0.00136178 0.00622789 85 transition G A G>A 0.000 -0.198 255 PASS . 0.01 0.02 . 0.01 . 0.004 0.014 . 0.008 0.002 . . . . . 0.44827586 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . 0.0014 0.0062 0.0087 0.0014 0.0062 0.0087 . -0.1030 . . . . . . . . 6.078e-03 . . . 0.0012 0.0065 0.0071 0 0.0047 0.0093 0.0115 0.0044 0.0011 0.0061 0.0069 0 0.0041 0.0084 0.0103 0.0044 . . . . . . intronic intronic ncRNA_intronic . . . 0.0040 . . . 0.39 0.08 182 ENSG00000035928 RFC1 MIR1273H . . . . . . 405 0.00623307 64976 385 0.00641816 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41547922 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv878940 0.006228 . . . . . 0.0010 0.0061 0.0059 0.0173 0 0.0039 0.0079 0.0088 0.0035 0.0021 0.0049 0.0072 0.0099 0 0.0052 0.0065 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs41547922 rs41547922 rs41547922 rs41547922 1 1538 10 1/0 0,255,255 +. 4 39918660 A C - PDS5A 29088 PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) NM_001100399.1 -1 7176 4014 NP_001093869.1 Q29RF7 substitution intron GRCh37 39918660 39918660 Chr4(GRCh37):g.39918660A>C 876+8 876+8 NM_001100399.1:c.876+8T>G p.? p.? 8 8 613200 8 5' 94.3644 X.71 0.998108 1.65911 94.3644 X.71 0.997806 II.52 -0.000100857 transversion T G T>G 0.024 0.609 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.9537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000121892 PDS5A PDS5A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.016 . . . . . . III.76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201142775 (chr4:49504178 A/G) 4 49504178 A G Not on a known gene +rs879244069 (chr4:49506336 C/T) 4 49506336 C T Not on a known gene +rs879130281 (chr4:49506338 G/T) 4 49506338 G T Not on a known gene +rs879178457 (chr4:49506375 T/C) 4 49506375 T C Not on a known gene +rs191202834 4 54324812 A C - FIP1L1 19124 FIP1 like 1 (S. cerevisiae) NM_030917.3 1 2458 1785 NP_112179.2 Q6UN15 substitution intron GRCh37 54324812 54324812 Chr4(GRCh37):g.54324812A>C 1500-8 1500-8 NM_030917.3:c.1500-8A>C p.? p.? 17 16 607686 -8 3' 85.8402 8.69227 0.826257 5.35485 89.1287 9.19115 0.964884 6.91961 0.0878268 Cryptic Acceptor Strongly Activated 54324820 8.69227 0.826257 85.8402 9.19115 0.964884 89.1287 rs191202834 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.002300 0.001000 0.000000 0.004000 0.000000 0.004280 0.001132 0.002829 0.010334 0.000000 0.001789 0.006612 0.000973 0.006289 0.010334 1168 27 95 102 0 54 825 25 40 272878 23850 33580 9870 18570 30180 124782 25686 6360 0.000051 0.000000 0.000000 0.000000 0.000000 0.000133 0.000080 0.000000 0.000000 7 0 0 0 0 2 5 0 0 1154 27 95 102 0 50 815 25 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4400 12957 41 6 47 0.00476855 0.00136178 0.00361427 0.00476855 0.00136178 0.00361427 56 transversion A C A>C 0.000 -1.167 255 PASS . 0.0009 . . 0.0026 0.0023 0.0016 . . 0.004 0.001 . . . . . 0.6 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0014 0.0036 0.0048 0.0014 0.0036 0.0048 . -0.3037 . . . . . . . . 4.499e-03 . . . 0.0012 0.0042 0.0031 0 0.0013 0.0069 0.0072 0.0018 0.0012 0.0046 0.0031 0 0.0012 0.0074 0.0029 0.0018 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.55 0.22 182 ENSG00000145216 . FIP1L1 . . . . . . 281 0.00432467 64976 273 0.00455106 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs191202834 . . . . . . . . . . . . . . . . . . . . 0 0.004 . 0.003614 . . . . . 0.0013 0.0044 0.0028 0.0101 0 0.0011 0.0067 0.0063 0.0018 0.0009 0.0037 0.0036 0.0166 0 0.0003 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0048 . . rs191202834 rs191202834 1 1538 10 1/0 0,255,255 +rs191202834 4 54324812 A C - LNX1 6657 Ligand of numb-protein X 1, E3 ubiquitin protein ligase NM_001126328.2 -1 3109 2187 NP_001119800.1 Q8TBB1 substitution downstream GRCh37 54324812 54324812 Chr4(GRCh37):g.54324812A>C *2262 *2262 NM_001126328.2:c.*2262T>G p.? p.? 11 609732 2398 3' 89.6117 XI.26 0.997051 XI.64 89.6117 XI.26 0.997051 XI.64 0 rs191202834 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.002300 0.001000 0.000000 0.004000 0.000000 0.004280 0.001132 0.002829 0.010334 0.000000 0.001789 0.006612 0.000973 0.006289 0.010334 1168 27 95 102 0 54 825 25 40 272878 23850 33580 9870 18570 30180 124782 25686 6360 0.000051 0.000000 0.000000 0.000000 0.000000 0.000133 0.000080 0.000000 0.000000 7 0 0 0 0 2 5 0 0 1154 27 95 102 0 50 815 25 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4400 12957 41 6 47 0.00476855 0.00136178 0.00361427 0.00476855 0.00136178 0.00361427 56 transversion T G T>G 0.000 -1.167 255 PASS . 0.0009 . . 0.0026 0.0023 0.0016 . . 0.004 0.001 . . . . . 0.6 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0014 0.0036 0.0048 0.0014 0.0036 0.0048 . -0.3037 . . . . . . . . 4.499e-03 . . . 0.0012 0.0042 0.0031 0 0.0013 0.0069 0.0072 0.0018 0.0012 0.0046 0.0031 0 0.0012 0.0074 0.0029 0.0018 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.55 0.22 182 ENSG00000145216 . FIP1L1 . . . . . . 281 0.00432467 64976 273 0.00455106 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs191202834 . . . . . . . . . . . . . . . . . . . . 0 0.004 . 0.003614 . . . . . 0.0013 0.0044 0.0028 0.0101 0 0.0011 0.0067 0.0063 0.0018 0.0009 0.0037 0.0036 0.0166 0 0.0003 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0048 . . rs191202834 rs191202834 1 1538 10 1/0 0,255,255 +rs145959811 4 56878116 G A - CEP135 29086 Centrosomal protein 135kDa NM_025009.4 1 5735 3423 NP_079285.2 Q66GS9 substitution missense exon GRCh37 56878116 56878116 Chr4(GRCh37):g.56878116G>A 2767 2767 NM_025009.4:c.2767G>A p.Glu923Lys p.Glu923Lys 21 611423 -36 5' 79.2237 7.95527 0.863653 1.72865 79.2237 7.95527 0.863653 1.49924 0 rs145959811 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.004000 0.001400 0.001504 0.000311 0.000589 0.000112 0.000000 0.000317 0.002528 0.001419 0.001591 0.002528 374 7 16 1 0 8 297 36 9 248736 22478 27154 8938 16406 25260 117474 25368 5658 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 2 0 0 0 0 0 2 0 0 370 7 16 1 0 8 293 36 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4405 12978 27 1 28 0.00313953 0.000226963 0.00215285 0.00313953 0.000226963 0.00215285 56 RCV000193492.1 germline clinical testing VUS 1 not specified transition G A G>A 1.000 5.290 E Glu GAA 0.417 K Lys AAA 0.425 923 11 10 Fruitfly 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C15 44.60 56.87 Deleterious 0.02 III.32 255 PASS 0.002 0.0023 0.0028 . 0.004 0.0008 0.0012 0.0014 . 0.004 . ENSG00000174799:ENST00000257287:exon21:c.G2767A:p.E923K . CEP135:NM_025009:exon21:c.G2767A:p.E923K . . 0.38297874 . . germline 18 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.952 . Uncertain//\@significance Uncertain_significance RCV000193492.1 not_specified MedGen CN169374 1 0.996 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E923K|CEP135|mRNA|CODING|NM_025009|NM_025009.ex.21) 0.0002 0.0022 0.0031 0.0002 0.0022 0.0031 . 0.8289 0.817 0.829 c . . . . . 1.729e-03 . . . 0.0002 0.0017 0.0004 0 0.0021 0.0031 0.0014 0.0004 0.0001 0.0015 0.0004 0 0.0021 0.0025 0.0030 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.140 . . exonic exonic exonic . . 0.883 0.0012 . . . 0.47 0.39 182 ENSG00000174799 CEP135 CEP135 . . . 1.000 0.747 . 236 0.00363211 64976 230 0.00383423 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.610 0.043 . . 37 . 0.394 . . 0.027 . . . 0.702 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.615 . . 0 0 0 0 1 0 . 0.715 . . 0.662 . . . . . . 0 0.682 . . . . . 0.982 . 0.592 . HET 0.03 rs145959811 . . . . . . . 0.0022893772893772895 0.0020325203252032522 0.0027624309392265192 0.0 0.00395778364116095 20.181 2.68E-4 ENST00000257287 V.69 V.69 . 0.210000 Q66GS9 . . . 0.002153 . 0.816 . . V.69 0.0003 0.0015 0.0006 0.0001 0 0.0015 0.0025 0.0017 0.0003 0.0003 0.0015 0.0012 0 0 0.0011 0.0024 0.0010 . . 0.924 . 2.840 2.840000 . . 0.210000 . . 1.0E-255 1.000 0.715 . 0.653 0.997 . 0.763 . 0.551 2.840 0.917 0.004 . . rs145959811 rs145959811 1 1538 10 1/0 0,255,255 +rs536545335 4 71227922 C G - SMR3A 19216 Submaxillary gland androgen regulated protein 3A NM_012390.3 1 598 405 NP_036522.3 Q99954 substitution intron GRCh37 71227922 71227922 Chr4(GRCh37):g.71227922C>G 54+36 54+36 NM_012390.3:c.54+36C>G p.? p.? 2 2 36 5' 78.6431 9.49083 0.951872 3.08949 78.6431 9.49083 0.951872 3.06038 0 New Acceptor Site 71227923 4.03381 0.62566 71.3646 rs536545335 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000800 0.004100 0.002000 0.001000 0.000000 0.000777 0.000462 0.002554 0.000312 0.001594 0.000406 0.000431 0.000355 0.001114 0.002554 209 11 85 3 29 12 53 9 7 269006 23816 33278 9626 18188 29522 122926 25364 6286 0.000007 0.000000 0.000000 0.000000 0.000110 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 207 11 85 3 27 12 53 9 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 238 PASS . . . . . 0.0008 0.0016 . 0.002 0.001 0.0041 . . . . . 0.26984128 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||SMR3A|mRNA|CODING|NM_012390|) . . . . . . . -0.1547 . . . . . . . . 1.444e-03 . . . 0.0004 0.0012 0.0041 0.0053 0.0003 0.0004 0.0014 0.0004 0.0002 0.0011 0.0040 0.0038 0.0003 0.0005 0.0015 0.0004 . . . . . . intronic intronic intronic . . . 0.0016 . . . . . . ENSG00000109208 . SMR3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536545335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0008 0.0025 0.0003 0.0017 0.0004 0.0005 0.0011 0.0004 0.0006 0.0004 0.0049 0 0.0006 0 6.694e-05 0.0010 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs202206824 4 71275790 T C - OPRPN 17279 Opiorphin prepropeptide NM_021225.4 1 1043 747 NP_067048.4 Q99935 substitution stop loss exon GRCh37 71275790 71275790 Chr4(GRCh37):g.71275790T>C 745 745 NM_021225.4:c.745T>C p.*249Argext*5 p.*249Argext*5 3 608936 694 3' 88.0771 XI.33 0.95351 8.96407 88.0771 XI.33 0.95351 8.96407 0 rs202206824 yes no Frequency 1 T 0.000000 0 0.000302 0.000043 0.000000 0.000000 0.000000 0.000000 0.000502 0.000454 0.000411 0.000502 66 1 0 0 0 0 53 10 2 218444 23208 23726 4976 16968 17176 105516 22006 4868 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 66 1 0 0 0 0 53 10 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.198 * * TGA 0.489 R Arg CGA 0.110 249 255 PASS . . . . . . . . . . . ENSG00000171199:ENST00000399575:exon3:c.T745C:p.X249R PROL1:uc003hfi.3:exon3:c.T745C:p.X249R PROL1:NM_021225:exon3:c.T745C:p.X249R . . 0.375 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.290 . @ . . . . . 0 0.081 . . 64.0 . . . . . . . . . . -0.0012 -0.446 -0.001 c . . . . . 1.840e-04 . . . 0.0001 0.0001 0 0 0.0005 0.0002 0 0 0 0.0002 0 0 0.0005 0.0002 0 0 stoploss stoploss stoploss . . . exonic exonic exonic . . 0.089 @ . . . 0.17 0.24 182 ENSG00000171199 PROL1 PROL1 . . . 0.000 0.029 . 5 7.69515e-05 64976 5 8.33528e-05 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.006 . . . HET . rs202206824 . . . . . . . . . . . . 0.5424 . ENST00000399575 2.IX -1.25 . . . . . . . . 0.050 . . . 6.908e-05 0.0001 0 0 0 0.0004 0.0002 0.0005 0 0 0.0012 0 0 0 0.0009 0.0023 0 . . 0.009 . -0.210 -0.210000 . . . . . 1.0E-255 0.000 0.063 . 0.126 0.087 . 0.096 . 0.425 -0.210 0.673 . . . rs202206824 rs202206824 1 1538 10 1/0 0,255,255 +. 4 71607237 CTCCCTTTCAGTTA C - RUFY3 30285 RUN and FYVE domain containing 3 NM_001037442.3 1 4558 1863 NP_001032519.1 deletion intron GRCh37 71607245 71607257 Chr4(GRCh37):g.71607245_71607257del 178+18777 178+18789 NM_001037442.3:c.178+18777_178+18789del p.? p.? 1 1 611194 18777 5' 84.5009 IX.03 0.953885 6.23634 84.5009 IX.03 0.953885 6.23634 0 CAGTTATCCCTTT 255 Pass . . . . . . . . . . . . . . . . 0.34375 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000018189 RUFY3 RUFY3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +rs145185829 4 74316431 A G - AFP 317 Alpha fetoprotein NM_001134.2 1 2039 1830 NP_001125.1 P02771 substitution synonymous exon GRCh37 74316431 74316431 Chr4(GRCh37):g.74316431A>G 1389 1389 NM_001134.2:c.1389A>G p.Gln463= p.Gln463Gln 11 104150 -40 5' 83.6687 X.37 0.979899 8.35482 83.6687 X.37 0.979899 8.47315 0 Serum albumin, N-terminal Serum albumin-like Serum albumin/Alpha-fetoprotein rs145185829 yes no Frequency 1 A 0.000000 0 0.000274 0.000042 0.000698 0.000000 0.000053 0.000000 0.000387 0.000000 0.000155 0.000698 76 1 24 0 1 0 49 0 1 276982 24030 34396 10140 18866 30780 126516 25790 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 1 24 0 1 0 49 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 122 transition A G A>G 0.866 -1.328 Q Gln CAA 0.256 Q Gln CAG 0.744 463 255 PASS . . . . . . . . . . . . . AFP:NM_001134:exon11:c.A1389G:p.Q463Q . . 0.45454547 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q463|AFP|mRNA|CODING|NM_001134|NM_001134.ex.11) . 0.0002 0.0002 . 0.0002 0.0002 . 0.7227 . . . . . . . . 2.604e-04 . . . 9.634e-05 0.0003 0.0006 0.0002 0 0.0005 0 0 0.0001 0.0002 0.0006 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.38 182 ENSG00000081051 AFP AFP . . . . . . 9 0.000138513 64976 9 0.000150035 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145185829 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 6.535e-05 0.0003 0.0007 0 5.798e-05 0 0.0004 0.0002 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs145185829 rs145185829 1 1538 10 1/0 0,255,255 +. 4 74464286 T TGT - RASSF6 20796 Ras association (RalGDS/AF-6) domain family member 6 NM_201431.2 -1 5926 1110 NP_958834.1 Q6ZTQ3 duplication intron GRCh37 74464285 74464286 Chr4(GRCh37):g.74464286_74464287dup 240+70 240+71 NM_201431.2:c.240+70_240+71dup p.? p.? 3 3 612620 71 5' 91.1667 9.84565 0.998056 0 91.1667 9.84565 0.998056 0 0 rs10632092 yes no Frequency/1000G 2 0.000000 0 0.608826 0.490200 0.594100 0.663700 0.679900 0.672900 0.862208 0.691583 0.887283 0.826389 0.991905 0.000000 0.936984 0.902473 0.918301 0.991905 25411 5949 614 238 1593 0 13620 2554 843 29472 8602 692 288 1606 0 14536 2830 918 0.437566 0.345772 0.439739 0.403361 0.495920 0.000000 0.468282 0.446750 0.459075 11119 2057 270 96 790 0 6378 1141 387 2248 1328 50 21 6 0 564 233 46 0 0 0 0 0 0 0 0 0 PASS 43 Genomes CA 255 Pass . . . . . . . . . . . . . . . . 0.7419355 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000169435 RASSF6 RASSF6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,13 +rs777652310 4 76516959 G C - CDKL2 1782 Cyclin-dependent kinase-like 2 (CDC2-related kinase) NM_003948.3 -1 4715 1482 NP_003939.1 Q92772 substitution intron GRCh37 76516959 76516959 Chr4(GRCh37):g.76516959G>C 1416+4472 1416+4472 NM_003948.3:c.1416+4472C>G p.? p.? 10 10 603442 4472 5' 75.2248 7.78713 0.952999 0 75.2248 7.78713 0.952999 0 0 rs777652310 yes no Frequency 1 G 0.000000 0 0.000397 0.000000 0.000000 0.000000 0.000000 0.000000 0.000634 0.002140 0.000472 0.002140 59 0 0 0 0 0 39 18 2 148598 14658 21008 7320 10978 20460 61526 8412 4236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 0 0 0 0 0 39 18 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.44117647 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||CDKL2|mRNA|CODING|NM_003948|) . . . . . . . 0.2990 . . . . . . . . 1.730e-04 . . . 0 8.919e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000138769 CDKL2 CDKL2 . . . . . . 30 0.000461709 64976 30 0.000500117 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs777652310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.13 0 0.0003 0 0 0 0.0026 0.0006 0 0 0 0.0006 0 0 0 0.0014 0.0009 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs150366861 4 77818958 G A - SOWAHB 32958 Sosondowah ankyrin repeat domain family member B NM_001029870.2 -1 3775 2382 NP_001025041.1 A6NEL2 substitution synonymous exon GRCh37 77818958 77818958 Chr4(GRCh37):g.77818958G>A 45 45 NM_001029870.2:c.45C>T p.Cys15= p.Cys15Cys 1 rs150366861 yes no Frequency/1000G 2 G 0.000000 0 0.004593 0.000800 0.003100 0.000000 0.010900 0.011500 0.005313 0.000644 0.003672 0.002590 0.000000 0.004553 0.007755 0.005676 0.006331 0.007755 1405 15 126 26 0 140 961 97 40 264428 23290 34318 10038 18708 30746 123922 17088 6318 0.000098 0.000000 0.000000 0.000199 0.000000 0.000130 0.000097 0.000351 0.000317 13 0 0 1 0 2 6 3 1 1379 15 126 24 0 136 949 91 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4381 12886 67 5 72 0.00781615 0.00113999 0.00555641 0.00781615 0.00113999 0.00555641 22 transition C T C>T 1.000 1.497 C Cys TGC 0.552 C Cys TGT 0.448 15 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.0046 0.011 . 0.011 0.0031 ENSG00000186212:ENST00000334306:exon1:c.C45T:p.C15C SOWAHB:uc003hki.3:exon1:c.C45T:p.C15C SOWAHB:NM_001029870:exon1:c.C45T:p.C15C . . 0.5448276 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 145.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C15|SOWAHB|mRNA|CODING|NM_001029870|NM_001029870.ex.1) 0.0011 0.0056 0.0078 0.0011 0.0056 0.0078 . I.38 . . . . . . . . 5.461e-03 . . . 0.0006 0.0056 0.0034 0 0.0035 0.0090 0.0063 0.0042 0.0006 0.0056 0.0034 0 0.0038 0.0084 0.0061 0.0043 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.25 0.41 182 ENSG00000186212 SOWAHB SOWAHB . . . . . . 472 0.00726422 64976 449 0.00748508 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150366861 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.005556 . . . . 4.VII 0.0006 0.0054 0.0037 0.0026 0 0.0054 0.0079 0.0062 0.0046 0.0007 0.0045 0.0024 0.0033 0 0.0069 0.0065 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs150366861 rs150366861 1 1538 10 1/0 0,250,255 +rs76033792 4 79833281 A T - BMP2K 18041 BMP2 inducible kinase NM_198892.1 1 3806 3486 NP_942595.1 Q9NSY1 substitution 3'UTR GRCh37 79833281 79833281 Chr4(GRCh37):g.79833281A>T *94 *94 NM_198892.1:c.*94A>T p.? p.? 16 617648 1518 3' 86.6281 8.95575 0.864744 3.35744 86.6281 8.95575 0.864744 3.35744 0 Cryptic Acceptor Strongly Activated 79833295 3.86568 0.070897 79.2687 5.61876 0.276182 82.3844 rs76033792 yes no Frequency/1000G 2 A 0.000000 0 0.076478 0.001500 0.105300 0.223200 0.033800 0.027400 transversion A T A>T 0.646 0.770 255 PASS . . . . . 0.0015 0.076 0.027 0.22 0.034 0.11 . . . . . 0.42857143 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . UTR_3_PRIME(MODIFIER||||BMP2K|mRNA|CODING|NM_198892|NM_198892.ex.16) . . . . . . . 0.7282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0765 . . . 0.63 0.62 182 . . BMP2K . uc003hlk.3:c.*94A>T\x3buc010ijm.2:c.*94A>T NM_198892:c.*94A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76033792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.61 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76033792 rs76033792 1 1538 10 1/0 0,255,255 +rs76520492 4 79833282 T A - BMP2K 18041 BMP2 inducible kinase NM_198892.1 1 3806 3486 NP_942595.1 Q9NSY1 substitution 3'UTR GRCh37 79833282 79833282 Chr4(GRCh37):g.79833282T>A *95 *95 NM_198892.1:c.*95T>A p.? p.? 16 617648 1519 3' 86.6281 8.95575 0.864744 3.35744 86.6281 8.95575 0.864744 3.35744 0 rs76520492 yes no Frequency/1000G 2 T 0.000000 0 0.076478 0.001500 0.105300 0.223200 0.033800 0.027400 transversion T A T>A 0.528 0.125 255 PASS . . . . . 0.0015 0.076 0.027 0.22 0.034 0.11 . . . . . 0.44186047 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . UTR_3_PRIME(MODIFIER||||BMP2K|mRNA|CODING|NM_198892|NM_198892.ex.16) . . . . . . . 0.5792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0765 . . . 0.57 0.71 182 . . BMP2K . uc003hlk.3:c.*95T>A\x3buc010ijm.2:c.*95T>A NM_198892:c.*95T>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76520492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76520492 rs76520492 1 1538 10 1/0 0,255,255 +rs79980998 4 79833283 T C - BMP2K 18041 BMP2 inducible kinase NM_198892.1 1 3806 3486 NP_942595.1 Q9NSY1 substitution 3'UTR GRCh37 79833283 79833283 Chr4(GRCh37):g.79833283T>C *96 *96 NM_198892.1:c.*96T>C p.? p.? 16 617648 1520 3' 86.6281 8.95575 0.864744 3.35744 86.6281 8.95575 0.864744 3.35744 0 rs79980998 yes no Frequency/1000G 2 T 0.000000 0 0.076478 0.001500 0.105300 0.223200 0.033800 0.027400 transition T C T>C 0.535 0.448 255 PASS . . . . . 0.0015 0.076 0.027 0.22 0.034 0.11 . . . . . 0.44186047 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . UTR_3_PRIME(MODIFIER||||BMP2K|mRNA|CODING|NM_198892|NM_198892.ex.16) . . . . . . . 0.5764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0765 . . . 0.6 0.7 182 . . BMP2K . uc003hlk.3:c.*96T>C\x3buc010ijm.2:c.*96T>C NM_198892:c.*96T>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79980998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79980998 rs79980998 1 1538 10 1/0 0,255,255 +rs6831595 (chr4:84376743 A/T) 4 84376743 A T Transcript NM_133636.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) HELQ +rs6831595 4 84376743 A T - MRPS18C 16633 Mitochondrial ribosomal protein S18C NM_016067.3 1 1101 429 NP_057151.1 Q9Y3D5 substitution upstream GRCh37 84376743 84376743 Chr4(GRCh37):g.84376743A>T -488 -488 NM_016067.3:c.-488A>T p.? p.? 1 611983 -588 5' 73.8689 6.23231 0.876833 3.52735 73.8689 6.23231 0.876833 3.52735 0 rs6831595 yes no Frequency/1000G 2 T 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999982 1.000000 1.000000 1.000000 1.000000 1.000000 0.999961 1.000000 1.000000 1.000000 277183 24028 34418 10150 18866 30782 126681 25790 6468 277188 24028 34418 10150 18866 30782 126686 25790 6468 0.999964 1.000000 1.000000 1.000000 1.000000 1.000000 0.999921 1.000000 1.000000 138589 12014 17209 5075 9433 15391 63338 12895 3234 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 1 0 1 8599 4406 13005 0.000116279 0 7.68876e-05 0.999884 1 0.999923 108 transversion A T A>T 0.000 -0.924 111 PASS 0.97 0.98 0.99 0.98 0.99 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 138 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.046 . . 138.0 . . . 1. 1. 1. 1. 1. 1. . -1.8477 -1.815 -1.848 c . . . . . 1.000 . . . 1 1.0000 1 1 1 1.0000 1 1 1 1.0000 1 1 1 1.0000 1 1 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.606 . . exonic exonic exonic . . 0.045 0.0000 . . . 0.27 0.27 182 ENSG00000163312 HELQ HELQ . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.013 . . . . . . . . . 37 . 0.000 . . 0.385 . . . 0.008 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.014 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.091 . 0.089 . HOM 0.79 rs6831595 0.772 0.775 . . . . . 0.9835164835164835 0.9735772357723578 0.988950276243094 0.9790209790209791 0.9907651715039578 4.0141 1.0 . 5.III -3.44 . 1.000000 . . . . 0.999923 . 0.010 . . . 1 1.0000 1 1 1 1 1.0000 1 1 1 1.0000 1 1 1 1 0.9999 1 . . 0.072 . -0.807 -0.807000 . . 1.000000 . . 1.0E-111 0.000 0.063 . 0.016 0.033 . 0.051 . 0.039 -0.807 0.061 1. rs6831595 rs6831595 rs6831595 rs6831595 1 1538 255 1.I 0,0,255 +. (chr4:88813270 C/CCAAT) 4 88813270 C CCAAT No Alamut gene - other known genes: HSP90AB3P HSP90AB3P +rs3729651 (chr4:88813271 A/T) 4 88813271 A T No Alamut gene - other known genes: HSP90AB3P HSP90AB3P +rs3219193 4 89053141 C T - ABCG2 74 ATP binding cassette subfamily G member 2 (Junior blood group) NM_001348985.1 -1 4728 1968 NP_001335914.1 Q9UNQ0 substitution intron GRCh37 89053141 89053141 Chr4(GRCh37):g.89053141C>T 264-72 264-72 NM_001348985.1:c.264-72G>A p.? p.? 5 4 603756 -72 3' 85.0733 10.1364 0.957057 7.54764 85.0733 10.1364 0.957057 7.42636 0 rs3219193 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.005639 0.001148 0.002392 0.000000 0.000000 0.000000 0.009172 0.006045 0.004107 0.009172 174 10 2 0 0 0 137 21 4 30856 8712 836 302 1622 0 14936 3474 974 0.005747 0.000000 0.000000 0.000000 0.000000 0.000000 0.007299 0.000000 0.000000 1 0 0 0 0 0 1 0 0 172 10 2 0 0 0 135 21 4 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.117 255 PASS . 0.0018 . . 0.01 . 0.001 0.0014 . 0.004 . . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . 0.1520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.32 0.27 182 ENSG00000118777 ABCG2 ABCG2 . . . . . . 358 0.00550973 64976 353 0.00588471 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3219193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0056 0.0024 0 0 0.0060 0.0092 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs3219193 rs3219193 rs3219193 rs3219193 1 1538 10 1/0 0,255,255 +rs200328226 4 90169592 G A - GPRIN3 27733 GPRIN family member 3 NM_198281.2 -1 6352 2331 NP_938022.2 Q6ZVF9 substitution missense exon GRCh37 90169592 90169592 Chr4(GRCh37):g.90169592G>A 1670 1670 NM_198281.2:c.1670C>T p.Ser557Leu p.Ser557Leu 2 611241 1793 3' 89.4968 7.24179 0.890411 9.90611 89.4968 7.24179 0.890411 9.90611 0 rs200328226 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000206 0.000083 0.000000 0.000000 0.000053 0.000000 0.000324 0.000427 0.000310 0.000427 57 2 0 0 1 0 41 11 2 276914 24028 34414 10138 18844 30774 126468 25786 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 2 0 0 1 0 41 11 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4405 13003 2 1 3 0.000232558 0.000226963 0.000230663 0.000232558 0.000226963 0.000230663 101 transition C T C>T 0.000 0.367 S Ser TCG 0.056 L Leu TTG 0.127 557 11 6 White-tuffed-ear marmoset -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 244.82 0.00 Tolerated 0.44 III.73 good 7.927E-1 0.482 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . GPRIN3:NM_198281:exon2:c.C1670T:p.S557L . . 0.43661973 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.209 . . 71.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S557L|GPRIN3|mRNA|CODING|NM_198281|NM_198281.ex.2) 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . -1.0421 -1.022 -1.042 c . . . . . 1.579e-04 . . . 9.632e-05 0.0001 0 0 0.0008 0.0002 0 0 0.0001 0.0001 0 0 0.0005 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.079 . . exonic exonic exonic . . 0.250 0.0002 . . . 0.3 0.54 182 ENSG00000185477 GPRIN3 GPRIN3 . . . 1.000 0.424 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . T 0.050 0.002 . . 37 . 0.057 . . 0.339 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.146 . . . . . 0.247 . 0.007 . HET 0.39 rs200328226 . . . . . . . 0.0 0.0 0.0 0.0 0.0 7.1696 0.0 ENST00000333209 IV.72 I.95 . 0.360000 Q6ZVF9 . . . 0.000231 . 0.111 . . . 6.536e-05 0.0002 0 0 5.806e-05 0.0004 0.0003 0.0002 0 0.0001 0.0005 0 0 0 0.0006 0.0007 0.0010 . . 0.246 . 0.567 0.567000 . . 0.360000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.097 . 0.084 0.567 -0.449 0.0002 . . rs200328226 rs200328226 1 1538 10 1/0 0,255,255 +. 4 96025545 A G - BMPR1B 1077 Bone morphogenetic protein receptor, type IB NM_001256793.1 1 5397 1599 NP_001243722.1 substitution intron GRCh37 96025545 96025545 Chr4(GRCh37):g.96025545A>G 74-14 74-14 NM_001256793.1:c.74-14A>G p.? p.? 2 1 603248 -14 3' 91.4905 8.79448 0.956922 9.92406 91.4905 X.36 0.968453 11.1829 0.0623532 transition A G A>G 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.4528302 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.0927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . . . . ENSG00000138696 BMPR1B BMPR1B ENST00000394931:c.-31A>G uc003htn.4:c.-31A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs61754858 4 100063853 T C - ADH4 252 Alcohol dehydrogenase 4 (class II), pi polypeptide NM_001306171.1 -1 2152 1200 NP_001293100.1 substitution missense exon GRCh37 100063853 100063853 Chr4(GRCh37):g.100063853T>C 154 154 NM_001306171.1:c.154A>G p.Lys52Glu p.Lys52Glu 3 103740 -24 5' 100 X.83 0.997702 XII.54 100 X.83 0.997702 XII.42 0 rs61754858 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000322 0.000254 0.000094 0.000103 0.000000 0.000000 0.000511 0.000430 0.000323 0.000511 86 6 3 1 0 0 63 11 2 267346 23646 31830 9676 17882 29248 123296 25576 6192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 6 3 1 0 0 63 11 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4405 13000 5 1 6 0.000581395 0.000226963 0.000461326 0.000581395 0.000226963 0.000461326 63 transition A G A>G 0.992 1.577 K Lys AAG 0.575 E Glu GAG 0.583 52 11 11 Zebrafish 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C55 0.00 56.87 Deleterious 0 III.84 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.52380955 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.534 . @ . . . . . 1 0.885 . . 21.0 . . . 0.0002 0.0005 0.0006 0.0002 0.0005 0.0006 . 0.4078 0.383 0.408 c . . . . . . . . . 0.0003 0.0004 0.0003 0 0.0019 0.0004 0.0015 0 0.0002 0.0003 0.0004 0 0.0011 0.0004 0.0015 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.037 . . exonic exonic exonic . . 0.486 0.0002 . . . 0.33 0.43 182 ENSG00000198099 ADH4 ADH4 . . . 1.000 0.467 . 35 0.00053866 64976 34 0.000566799 59986 Uncertain_significance . 0 . 0.419 . . . . T 0.284 0.011 . . 37 . 0.156 . . 0.007 . . . 0.915 0.548 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.670 . . 0 0 0 0 0 0 . 0.588 . . 0.582 . . . . . . 1 0.654 . . . . . 0.603 . 0.271 . HET 0 rs61754858 . . . . . . . . . . . . 13.4286 2.68E-4 . 4.II 4.II . 0.010000 . . . Name\x3dnsv879656 0.000461 . 0.460 . . 4.II 0.0003 0.0003 9.679e-05 0.0001 0 0.0004 0.0004 0.0004 0 0.0002 0.0007 0 0 0 0.0009 0.0011 0 . . 0.133 . 1.909 1.909000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.411 0.456 . 0.595 . 0.421 1.909 0.991 0.0006 rs61754858 rs61754858 rs61754858 rs61754858 1 1538 10 1/0 0,255,255 +rs138623507 4 100063889 G C - ADH4 252 Alcohol dehydrogenase 4 (class II), pi polypeptide NM_001306171.1 -1 2152 1200 NP_001293100.1 substitution missense exon GRCh37 100063889 100063889 Chr4(GRCh37):g.100063889G>C 118 118 NM_001306171.1:c.118C>G p.Pro40Ala p.Pro40Ala 3 103740 43 3' 96.6752 15.5376 0.99676 15.0072 96.6752 15.5376 0.99676 15.0435 0 rs138623507 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000343 0.000294 0.000091 0.000101 0.000000 0.000000 0.000546 0.000468 0.000317 0.000546 93 7 3 1 0 0 68 12 2 271244 23844 32874 9896 18190 29940 124516 25668 6316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 7 3 1 0 0 68 12 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4405 13000 5 1 6 0.000581395 0.000226963 0.000461326 0.000581395 0.000226963 0.000461326 59 transversion C G C>G 0.992 3.272 P Pro CCC 0.328 A Ala GCC 0.403 40 11 11 Zebrafish -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C25 0.00 26.87 Deleterious 0 III.84 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.4857143 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.651 . . 35.0 . . . 0.0002 0.0005 0.0006 0.0002 0.0005 0.0006 . 0.6084 0.512 0.608 c . . . . . 3.157e-04 . . . 0.0003 0.0004 0.0003 0 0.0019 0.0004 0.0015 0 0.0002 0.0003 0.0004 0 0.0011 0.0004 0.0015 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.455 0.0002 . . . 0.33 0.42 182 ENSG00000198099 ADH4 ADH4 . . . 1.000 0.747 . 40 0.000615612 64976 39 0.000650152 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.195 0.007 . . 37 . 0.251 . . 0.034 . . . 0.889 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.942 . . 0 0 0 0 0 0 . 0.689 . . 0.619 . . . . . . 1 0.784 . . . . . 0.542 . 0.444 . HET 0 rs138623507 . . . . . . . . . . . . XII.34 2.68E-4 . 4.0 4.0 . 0.010000 . . . Name\x3dnsv879656 0.000461 . 0.555 . . 4 0.0003 0.0003 9.364e-05 0.0001 0 0.0004 0.0005 0.0004 0 0.0002 0.0007 0 0 0 0.0009 0.0011 0 . . 0.133 . 2.241 2.241000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.552 0.176 . 0.690 . 0.384 2.241 0.917 0.0006 . . rs138623507 rs138623507 1 1538 10 1/0 0,255,255 +. 4 102964943 G T - BANK1 18233 B-cell scaffold protein with ankyrin repeats 1 NM_017935.4 1 3445 2358 NP_060405.4 Q8NDB2 substitution intron GRCh37 102964943 102964943 Chr4(GRCh37):g.102964943G>T 1901-53 1901-53 NM_017935.4:c.1901-53G>T p.? p.? 11 10 610292 -53 3' 88.4977 7.01896 0.969643 5.44975 88.4977 7.01896 0.969643 5.26208 0 rs929525141 yes no Frequency 1 G 0.000000 0 0.000291 0.000000 0.000000 0.013245 0.000000 0.000000 0.000267 0.000000 0.001018 0.013245 9 0 0 4 0 0 4 0 1 30928 8726 836 302 1612 0 14982 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 4 0 0 4 0 1 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion G T G>T 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5882353 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.2756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000153064 BANK1 BANK1 . . . . . . 38 0.000584831 64976 38 0.000633481 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0.0132 0 0 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200902693 4 103518830 C G - NFKB1 7794 Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 NM_003998.3 1 4085 2910 NP_003989.2 substitution intron GRCh37 103518830 103518830 Chr4(GRCh37):g.103518830C>G 1637+12 1637+12 NM_003998.3:c.1637+12C>G p.? p.? 15 15 164011 12 5' 100 X.83 0.998005 IX.62 100 X.83 0.998005 9.29221 0 rs200902693 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000643 0.000125 0.001051 0.000000 0.002131 0.000566 0.000645 0.000000 0.000000 0.002131 176 3 35 0 40 17 81 0 0 273636 23990 33290 10020 18770 30016 125518 25686 6346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 176 3 35 0 40 17 81 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4405 12996 9 1 10 0.00104651 0.000226963 0.000768876 0.00104651 0.000226963 0.000768876 99 transversion C G C>G 0.000 0.125 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5104167 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . 0.0002 0.0008 0.001 0.0002 0.0008 0.001 . 0.0416 . . . . . . . . 6.472e-04 . . . 0.0002 0.0007 0.0012 0.0016 0 0.0007 0 0.0008 0.0001 0.0007 0.0012 0.0024 0 0.0005 0 0.0008 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.39 0.1 182 ENSG00000109320 NFKB1 NFKB1 . . . . . . 27 0.000415538 64976 26 0.000433434 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200902693 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830020 0.000769 . . . . . 0.0001 0.0007 0.0010 0 0.0022 0 0.0007 0 0.0006 0.0001 0.0004 0.0012 0 0.0018 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200902693 rs200902693 1 1538 10 1/0 0,255,255 +rs77618489 4 103826685 T A - SLC9B1 24244 Solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 NM_139173.3 -1 1879 1548 NP_631912.2 Q4ZJI4 substitution stop gain exon GRCh37 103826685 103826685 Chr4(GRCh37):g.103826685T>A 1318 1318 NM_139173.3:c.1318A>T p.Lys440* p.Lys440* 11 611527 -15 5' 94.6711 X.63 0.998977 0 94.6711 X.63 0.998977 0 0 Cation/H+ exchanger rs77618489 no no 0 T 0.000000 0 0.000319 0.001153 0.000210 0.000100 0.000444 0.000033 0.000238 0.000479 0.000324 0.001153 85 25 7 1 8 1 29 12 2 266266 21678 33294 9990 17998 30110 121958 25064 6174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 25 7 1 8 1 29 12 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4328494|COSM4328494|COSM4328494 Upper aerodigestive tract|Skin|Liver 0.016077|0.000812|0.000422 1244|1232|2371 transversion A T A>T 1.000 2.950 K Lys AAA 0.425 * * TAA 0.277 440 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.991 . @ . . . . . 0 0.712 . . 27.0 . . . . . . . . . . 0.6880 0.508 0.688 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.387 @ . . . 0.35 0.55 182 ENSG00000164037 SLC9B1 SLC9B1 . . . 0.013 0.124 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.488 . . . HET 0 rs77618489 . . . . . . . . . . . . XI.28 . . III.47 III.47 . 1.000000 . . . . . . 0.596 . . III.47 0.0001 3.732e-05 6.137e-05 0 5.964e-05 0 2.736e-05 0 3.321e-05 0.0033 0.0030 0.0071 0.0038 0.0057 0.0042 0.0021 0.0025 . . 0.246 . 1.564 1.564000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.625 0.998 . 0.665 . 0.420 1.564 0.991 . . . rs77618489 rs77618489 1 1538 10 1/0 0,255,255 +rs6533206 (chr4:106474096 T/C) 4 106474096 T C Transcript NM_001242729.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) ARHGEF38 +rs545198673 4 106552316 T G - ARHGEF38 25968 Rho guanine nucleotide exchange factor (GEF) 38 NM_001242729.1 1 5456 2334 NP_001229658.1 Q9NXL2 substitution intron GRCh37 106552316 106552316 Chr4(GRCh37):g.106552316T>G 656+114 656+114 NM_001242729.1:c.656+114T>G p.? p.? 4 4 114 5' 82.5385 VI.58 0.994228 0.820277 82.5385 VI.58 0.994228 0.820277 0 rs545198673 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.002647 0.000115 0.000000 0.000000 0.000000 0.000000 0.004196 0.004865 0.001018 0.004865 82 1 0 0 0 0 63 17 1 30982 8730 838 302 1620 0 15016 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 82 1 0 0 0 0 63 17 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T G T>G 0.409 -0.682 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.3611111 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . 0.6817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . . . . ENSG00000236699 ARHGEF38 ARHGEF38 ENST00000265154:c.*110T>G uc003hxu.3:c.*110T>G NM_017700:c.*110T>G . . . 91 0.00140052 64976 90 0.00150035 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs545198673 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv879699 . . . . . . . . . . . . . . . 0.0001 0.0026 0 0 0 0.0049 0.0042 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs774433183 4 107169390 A C - TBCK 28261 TBC1 domain containing kinase NM_001163435.2 -1 5300 2682 NP_001156907.1 Q8TEA7 substitution intron GRCh37 107169390 107169390 Chr4(GRCh37):g.107169390A>C 782+12 782+12 NM_001163435.2:c.782+12T>G p.? p.? 9 9 616899 12 5' 64.8375 1.51603 0.136843 0 64.8375 1.51603 0.136843 0 0 rs774433183 yes no Frequency 1 A 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 0.000034 4 0 0 0 0 0 4 0 0 251042 23134 27182 8790 16780 24738 119384 25312 5722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.41935483 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.3602 . . . . . . . . 7.895e-06 . . . 0 1.123e-05 0 0 0 2.416e-05 0 0 0 9.563e-06 0 0 0 1.865e-05 0 0 . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000145348 TBCK TBCK ENST00000503832:c.*199T>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs774433183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.72 0 1.363e-05 0 0 0 0 2.874e-05 0 0 0 3.232e-05 0 0 0 0 6.674e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 108820812 A G - SGMS2 28395 Sphingomyelin synthase 2 NM_001136258.1 1 6147 1098 NP_001129730.1 Q8NHU3 substitution synonymous exon GRCh37 108820812 108820812 Chr4(GRCh37):g.108820812A>G 537 537 NM_001136258.1:c.537A>G p.Leu179= p.Leu179Leu 4 611574 -37 5' 89.8108 8.67858 0.992722 4.67054 89.8108 8.67858 0.992722 5.16144 0 Phosphatidic acid phosphatase type 2/haloperoxidase 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 244862 15266 33234 9830 17190 30518 111118 22274 5432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes transition A G A>G 0.016 -1.974 L Leu CTA 0.070 L Leu CTG 0.404 179 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . 0.1375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000164023 SGMS2 SGMS2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv461611 . . . . . . 0 4.084e-06 0 0 0 0 8.999e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs368913511 4 109670448 T C - ETNPPL 14404 Ethanolamine-phosphate phospho-lyase NM_031279.3 -1 2125 1500 NP_112569.2 Q8TBG4 substitution synonymous exon GRCh37 109670448 109670448 Chr4(GRCh37):g.109670448T>C 873 873 NM_031279.3:c.873A>G p.Thr291= p.Thr291Thr 8 614682 -55 5' 67.8423 6.52756 0.814892 0 67.8423 6.52756 0.814892 0.925393 0 Aminotransferase class-III rs368913511 yes no Frequency 1 T 0.000000 0 0.000007 0.000042 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000042 2 1 0 0 0 0 1 0 0 277228 24038 34416 10152 18870 30780 126716 25792 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 84 transition A G A>G 0.992 0.044 T Thr ACA 0.280 T Thr ACG 0.116 291 255 PASS . . . . . . . . . . . . . . . . 0.6111111 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 54.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 1.1391 . . . . . . . . 7.892e-06 . . . 0 1.103e-05 0 0 0 2.373e-05 0 0 0 9.421e-06 0 0 0 1.841e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.32 182 ENSG00000164089 AGXT2L1 ETNPPL . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368913511 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 4.061e-06 0 0 0 0 8.953e-06 0 0 0.0001 3.227e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs368913511 rs368913511 1 1538 10 1/0 0,255,255 +rs150436709 4 113186798 G A - AP1AR 28808 Adaptor related protein complex 1 associated regulatory protein NM_018569.5 1 5963 909 NP_061039.3 Q63HQ0 substitution intron GRCh37 113186798 113186798 Chr4(GRCh37):g.113186798G>A 441-92 441-92 NM_018569.5:c.441-92G>A p.? p.? 8 7 610851 -92 3' 87.0771 7.25541 0.833187 3.72447 87.0771 7.25541 0.833187 3.72447 0 rs150436709 yes no Frequency/1000G 2 G 0.000000 0 0.004593 0.003000 0.005100 0.000000 0.009900 0.005800 0.004434 0.001146 0.003589 0.029801 0.000618 0.000000 0.006755 0.001720 0.007157 0.029801 137 10 3 9 1 0 101 6 7 30900 8726 836 302 1618 0 14952 3488 978 0.007299 0.000000 0.000000 0.000000 0.000000 0.000000 0.009901 0.000000 0.000000 1 0 0 0 0 0 1 0 0 135 10 3 9 1 0 99 6 7 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition G A G>A 0.000 -0.198 249 PASS 0.01 0.01 . . 0.01 0.003 0.0046 0.0058 . 0.0099 0.0051 . . . . . 0.31578946 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . 0.3883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0046 . . . 0.36 0.22 182 ENSG00000138660 AP1AR AP1AR . . . . . . 373 0.00574058 64976 351 0.00585137 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150436709 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0044 0.0036 0.0298 0.0006 0.0017 0.0068 0.0072 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.011 . . rs150436709 rs150436709 1 1538 10 1/0 0,255,255 +. (chr4:119552964 C/G) 4 119552964 C G Not on a known gene +. 4 123268798 C CATG - KIAA1109 26953 KIAA1109 NM_015312.3 1 15575 15018 NP_056127.2 Q2LD37 duplication in-frame exon GRCh37 123268801 123268802 Chr4(GRCh37):g.123268799_123268801dup 12994 12996 NM_015312.3:c.12994_12996dup p.Met4332dup p.Met4332dup 74 611565 125 3' 84.2984 VII.78 0.879178 8.47268 84.2984 VII.78 0.879178 8.47268 0 rs759468278 yes no Frequency 1 0.000000 0 0.000127 0.000000 0.000000 0.000000 0.000000 0.000000 0.000254 0.000078 0.000155 0.000254 35 0 0 0 0 0 32 2 1 276566 24014 34344 10134 18856 30780 126202 25788 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 0 0 0 0 0 32 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8066 4018 12084 2 0 2 0.000247893 0 0.000165481 0.000247893 0 0.000165481 101 ATG 255 Pass . . . . . . . . . . . . . KIAA1109:NM_015312:exon74:c.12993_12994insATG:p.H4331delinsHM . . 0.47435898 . . . 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 78 . . CODON_INSERTION(MODERATE||-/ATG|-4332M|KIAA1109|mRNA|CODING|NM_015312|NM_015312.ex.74) . 0.0002 0.0002 . 0.0002 0.0002 . . . . . . . . . . 1.193e-04 . . . 0 0.0001 0 0 0.0003 0.0002 0 0 0 7.59e-05 0 0 0.0003 0.0001 0 0 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000138688 KIAA1109 KIAA1109 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs759468278 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv4496 0.000165 . . . . . 0 0.0001 0 0 0 8.971e-05 0.0002 0.0002 0 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . . . 1 1538 10 1.I 0,12,32 +rs141383757 4 128748467 G A - HSPA4L 17041 Heat shock protein family A (Hsp70) member 4 like NM_001317381.1 1 4051 2613 NP_001304310.1 substitution missense exon GRCh37 128748467 128748467 Chr4(GRCh37):g.128748467G>A 2147 2147 NM_001317381.1:c.2147G>A p.Gly716Asp p.Gly716Asp 18 8 3' 85.5569 5.84237 0.130332 3.36936 85.5569 5.84237 0.086667 3.97112 -0.111676 rs141383757 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.001337 0.000292 0.000147 0.002695 0.000000 0.000000 0.002329 0.001126 0.000934 0.002695 367 7 5 27 0 0 293 29 6 274416 23996 33934 10020 18702 29760 125818 25762 6424 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 365 7 5 27 0 0 291 29 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4406 12987 19 0 19 0.0022093 0 0.00146086 0.0022093 0 0.00146086 77 COSM4894838 Skin 0.000812 1232 transition G A G>A 1.000 4.967 G Gly GGC 0.342 D Asp GAC 0.539 716 12 10 Baker's yeast -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 215.19 64.73 Deleterious 0.04 III.23 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0004 . . 0.001 . . . . . . 0.62068963 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.840 . @ . . . . . 1 0.916 . . 29.0 . . . . 0.0015 0.0022 . 0.0015 0.0022 . 0.8951 0.785 0.895 c . . . . . 1.326e-03 . . . 0.0005 0.0011 8.67e-05 0 0.0008 0.0021 0.0042 0 0.0003 0.0012 8.94e-05 0 0.0005 0.0023 0.0043 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.142 . . exonic exonic exonic . . 0.572 0.0004 . . . 0.75 0.39 182 ENSG00000164070 HSPA4L HSPA4L . . . 1.000 0.747 . 95 0.00146208 64976 93 0.00155036 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.564 0.035 . . 37 . 0.496 . . 0.654 . . . 0.948 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.928 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.721 . . . . . 0.871 . 0.955 . HET 0 rs141383757 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0 0.0 0.0013192612137203166 17.3268 0.0 . IV.64 IV.64 . 0.000000 . . . . 0.001461 . 0.985 . . IV.64 0.0003 0.0013 0.0001 0.0028 0 0.0011 0.0023 0.0011 0 0.0003 0.0015 0.0012 0 0 0.0011 0.0025 0 . . 0.924 . 2.408 2.408000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.933 . 0.713 2.408 0.917 0.0022 . . rs141383757 rs141383757 1 1538 10 1/0 0,255,255 +. 4 129029009 G A - LARP1B 24704 La ribonucleoprotein domain family member 1B NM_018078.3 1 4048 2745 NP_060548.2 Q659C4 substitution intron GRCh37 129029009 129029009 Chr4(GRCh37):g.129029009G>A 988+541 988+541 NM_018078.3:c.988+541G>A p.? p.? 9 9 541 5' 81.9751 8.87834 0.807874 4.60167 81.9751 8.87834 0.807874 4.60167 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127258 5994 23444 7968 9844 22128 49016 5290 3574 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 60 Exomes transition G A G>A 1.000 0.690 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48.0 . . . . . . . . . . I.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000138709 LARP1B LARP1B ENST00000432347:c.*452G>A uc003ifx.3:c.*452G>A NM_032239:c.*452G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.91 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201323021 4 140587155 A G - MGST2 7063 Microsomal glutathione S-transferase 2 NM_002413.4 1 801 444 NP_002404.1 Q99735 substitution 5'UTR GRCh37 140587155 140587155 Chr4(GRCh37):g.140587155A>G -19 -19 NM_002413.4:c.-19A>G p.? p.? 1 601733 -77 5' 82.2284 6.91262 0.932696 0.937813 82.2284 6.91262 0.932696 1.79863 0 rs201323021 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000328 0.000125 0.000058 0.000000 0.000000 0.000065 0.000624 0.000039 0.000618 0.000624 91 3 2 0 0 2 79 1 4 277088 24032 34416 10146 18862 30762 126608 25794 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 91 3 2 0 0 2 79 1 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 81 transition A G A>G 0.000 -0.360 255 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.546875 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . I.93 . . . . . . . . 3.867e-04 . . . 9.701e-05 0.0003 8.714e-05 0 0 0.0007 0 6.153e-05 0.0001 0.0004 8.99e-05 0 0 0.0007 0 6.189e-05 . . . . . . UTR5 UTR5 UTR5 . . . 0.0002 . . . 0.62 0.6 182 ENSG00000085871 MGST2 MGST2 . . . . . . 31 0.000477099 64976 30 0.000500117 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201323021 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . . 6.535e-05 0.0003 5.956e-05 0 0 4.484e-05 0.0006 0.0004 6.502e-05 0.0002 0.0005 0 0 0 0 0.0007 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs201323021 rs201323021 1 1538 10 1/0 0,255,255 +. 4 141560737 C CAA - TBC1D9 21710 TBC1 domain family, member 9 (with GRAM domain) NM_015130.2 -1 5486 3801 NP_055945.2 Q6ZT07 insertion intron GRCh37 141560737 141560738 Chr4(GRCh37):g.141560737_141560738insAA 2338-156 2338-155 NM_015130.2:c.2338-156_2338-155insTT p.? p.? 14 13 -155 3' 89.3364 8.38225 0.979689 7.07614 89.3364 8.38225 0.979689 7.07614 0 Cryptic Acceptor Strongly Activated 141560725 0.78712 6.6e-05 71.0428 3.58473 0.001785 76.6393 TT 255 Pass . . . . . . . . . . . . . . . . 0.3181818 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000109436 TBC1D9 TBC1D9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,50 +. 4 141560737 C CAA - TNRC18P1 43881 Trinucleotide repeat containing 18 pseudogene 1 NR_077215.1 -1 1890 0 insertion downstream GRCh37 141560737 141560738 Chr4(GRCh37):g.141560737_141560738insAA *1607 *1608 NR_077215.1:n.*1607_*1608insTT p.? p.? 1 TT 255 Pass . . . . . . . . . . . . . . . . 0.3181818 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000109436 TBC1D9 TBC1D9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,50 +rs11100671 (chr4:141701208 A/G) 4 141701208 A G Not on a known gene +. (chr4:141701226 G/T) 4 141701226 G T Not on a known gene +rs372083096 (chr4:141701256 G/T) 4 141701256 G T Not on a known gene +rs377437853 4 146650323 A G - C4orf51 37264 Chromosome 4 open reading frame 51 NM_001080531.2 1 846 609 NP_001074000.1 C9J302 substitution synonymous exon GRCh37 146650323 146650323 Chr4(GRCh37):g.146650323A>G 369 369 NM_001080531.2:c.369A>G p.Ala123= p.Ala123Ala 4 3 3' 88.5652 X.71 0.991157 7.272 88.5652 X.72 0.991761 7.63956 -0.00394956 rs377437853 yes no Frequency 1 A 0.000000 0 0.000403 0.000043 0.000557 0.000101 0.000000 0.000630 0.000529 0.000000 0.000629 0.000630 110 1 19 1 0 19 66 0 4 272936 23434 34116 9934 18718 30150 124662 25562 6360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 1 19 1 0 19 66 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8150 3647 11797 8 1 9 0.000980633 0.000274123 0.000762324 0.000980633 0.000274123 0.000762324 103 transition A G A>G 1.000 0.286 A Ala GCA 0.226 A Ala GCG 0.107 123 255 PASS . . . . . . . . . . . ENSG00000237136:ENST00000438731:exon4:c.A369G:p.A123A C4orf51:uc003ikk.3:exon4:c.A369G:p.A123A C4orf51:NM_001080531:exon4:c.A369G:p.A123A . . 0.4883721 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|A123|C4orf51|mRNA|CODING|NM_001080531|NM_001080531.ex.4) 0.0003 0.0008 0.001 0.0003 0.0008 0.001 . 0.5165 . . . . . . . . 4.405e-04 . . . 0.0001 0.0007 0.0007 0 0 0.001 0 0.0005 0.0001 0.0005 0.0007 0 0 0.0008 0 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.28 182 ENSG00000237136 C4orf51 C4orf51 . . . . . . 11 0.000169293 64976 11 0.000183376 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377437853 . . . . . . . . . . . . 2.844 3.39E-4 ENST00000511965 III.48 0.961 . . . . . Name\x3dnsv830105 0.000762 . . . . . 6.798e-05 0.0004 0.0006 0.0001 0 0 0.0006 0.0007 0.0006 0 0.0001 0 0 0 0 0.0003 0 . . . . 0.213 0.213000 . . . . . 1.0E-255 . . . . . . . . . 0.213 . 0.001 . . rs377437853 rs377437853 1 1538 10 1/0 0,255,255 +. 4 158282177 C T - GRIA2 4572 Glutamate receptor, ionotropic, AMPA 2 NM_000826.3 1 5755 2652 NP_000817.2 P42262 substitution intron GRCh37 158282177 158282177 Chr4(GRCh37):g.158282177C>T 2292-513 2292-513 NM_000826.3:c.2292-513C>T p.? p.? 14 13 138247 -513 3' 77.9106 3.47129 0.017157 0 77.9106 3.47129 0.017157 0 0 Cryptic Acceptor Strongly Activated 158282182 3.45164 0.01079 74.7409 4.38879 0.017831 78.2865 transition C T C>T 1.000 4.322 255 PASS . . . . . . . . . . . ENSG00000120251:ENST00000264426:exon14:c.C2307T:p.L769L . GRIA2:NM_001083619:exon14:c.C2307T:p.L769L . . 0.42105263 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000120251 GRIA2 GRIA2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17476188 4 165111111 C T - MARCH1 26077 Membrane-associated ring finger (C3HC4) 1 NM_001166373.1 -1 5502 870 NP_001159845.1 Q8TCQ1 substitution intron GRCh37 165111111 165111111 Chr4(GRCh37):g.165111111C>T -78410 -78410 NM_001166373.1:c.-113-78297G>A p.? p.? 2 1 613331 -78297 3' 92.1985 9.02766 0.921123 5.90259 92.1985 9.02766 0.921123 5.90259 0 rs17476188 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.014976 0.001500 0.040900 0.001000 0.015900 0.023100 0.007943 0.002293 0.010740 0.023179 0.000000 0.000000 0.012858 0.002290 0.009165 0.023179 246 20 9 7 0 0 193 8 9 30970 8724 838 302 1620 0 15010 3494 982 0.012195 0.000000 0.111111 0.000000 0.000000 0.000000 0.010363 0.000000 0.000000 3 0 1 0 0 0 2 0 0 240 20 7 7 0 0 189 8 9 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 1.000 1.658 255 PASS . 0.01 0.02 . 0.02 0.0015 0.015 0.023 0.001 0.016 0.041 . . . . . 0.45614034 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||MARCH1|mRNA|CODING|NM_001166373|) . . . . . . . 0.0625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . 0.0150 . . . 0.26 0.08 182 ENSG00000250746 MARCH1 MARCH1 . . . . . . 822 0.0126508 64976 754 0.0125696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17476188 0.011 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0079 0.0107 0.0232 0 0.0023 0.0129 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs17476188 rs17476188 rs17476188 rs17476188 1 1538 10 1/0 0,255,255 +rs202185247 4 166141086 A G - KLHL2 6353 Kelch-like 2, Mayven (Drosophila) NM_001161521.1 1 3014 1794 NP_001154993.1 substitution synonymous exon GRCh37 166141086 166141086 Chr4(GRCh37):g.166141086A>G 39 39 NM_001161521.1:c.39A>G p.Val13= p.Val13Val 2 605774 1 3' 92.2675 8.63534 0.865677 VIII.69 96.1784 9.64729 0.949421 X.86 0.0854371 Cryptic Acceptor Strongly Activated 166141086 8.63534 0.865677 92.2675 9.64729 0.949421 96.1784 Kelch-like protein, gigaxonin rs202185247 yes no Frequency 1 A 0.000000 0 0.000228 0.000719 0.000316 0.000212 0.000171 0.000281 0.000143 0.000041 0.000336 0.000719 59 16 10 2 3 8 17 1 2 258578 22266 31636 9444 17550 28510 118534 24678 5960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 16 10 2 3 8 17 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 1.416 V Val GTA 0.114 V Val GTG 0.468 13 205 PASS . . . . . . . . . . . . . . . . 0.17391305 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . I.76 . . . . . . . . 1.318e-03 . . . 0.0003 0.0008 0.0003 0.0002 0 0.0005 0 0.0024 0.0002 0.0007 0.0003 0.0003 0.0003 0.0004 0 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.78 0.59 182 ENSG00000109466 KLHL2 KLHL2 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202185247 . . . . . . . . . . . . . . . . . . . . 0.0365 0.222 Name\x3dnsv881168 . . . . . IV.33 0.0002 0.0002 0.0003 0.0002 0.0002 4.693e-05 5.721e-05 0.0004 0.0003 0.0017 0.0009 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs202185247 rs202185247 1 1538 10 1/0 0,255,255 +rs61744599 4 175899076 A G - ADAM29 207 ADAM metallopeptidase domain 29 NM_001130703.1 1 3244 2463 NP_001124175.1 Q9UKF5 substitution synonymous exon GRCh37 175899076 175899076 Chr4(GRCh37):g.175899076A>G 2400 2400 NM_001130703.1:c.2400A>G p.Thr800= p.Thr800Thr 4 604778 2580 3' 85.3799 7.08965 0.976905 7.34833 85.3799 7.08965 0.976905 7.34833 0 Cryptic Acceptor Strongly Activated 175899086 4.85112 0.177435 75.0262 V.06 0.198564 75.0262 rs61744599 yes no Frequency 1 A 0.000000 0 0.002878 0.001327 0.001658 0.007704 0.000405 0.003153 0.003859 0.001508 0.003651 0.007704 564 27 43 49 6 69 328 26 16 195976 20340 25936 6360 14828 21882 85004 17244 4382 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 564 27 43 49 6 69 328 26 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8600 4405 13005 0 1 1 0 0.000226963 7.68876e-05 0 0.000226963 7.68876e-05 133 COSM1162319|COSM1162319|COSM1162319|COSM1162319 Thyroid|Pancreas|Large intestine|Kidney 0.002677|0.000566|0.000443|0.000549 747|1766|2257|1821 transition A G A>G 0.000 -0.279 T Thr ACA 0.280 T Thr ACG 0.116 800 214 PASS . . . . . . . . . . . . . . . . 0.19678715 . . @ 49 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 249.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.7514 . . . . . . . . . . . . 0.0425 0.0807 0.0689 0.0826 0.1157 0.0994 0.0757 0.0580 0.0457 0.0871 0.0683 0.0742 0.1133 0.1054 0.0795 0.0576 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.13 182 ENSG00000168594 ADAM29 ADAM29 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61744599 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0.0010 0.0027 0.0017 0.0080 0.0003 0.0016 0.0035 0.0032 0.0032 0.0019 0.0039 0.0017 0 0.0015 0.0008 0.0064 0.0059 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . 0.0002 rs61744599 rs61744599 rs61744599 rs61744599 1 1538 10 1/0 0,196,255 +rs146933346 4 175899088 G T - ADAM29 207 ADAM metallopeptidase domain 29 NM_001130703.1 1 3244 2463 NP_001124175.1 Q9UKF5 substitution missense exon GRCh37 175899088 175899088 Chr4(GRCh37):g.175899088G>T 2412 2412 NM_001130703.1:c.2412G>T p.Arg804Ser p.Arg804Ser 4 604778 2592 3' 85.3799 7.08965 0.976905 7.34833 85.3799 7.08965 0.976905 7.34833 0 rs146933346 yes no Frequency/1000G 2 T 0.000000 0 0.005591 0.000000 0.006100 0.009900 0.010900 0.001400 0.001456 0.000890 0.000889 0.003458 0.000209 0.001371 0.001926 0.000649 0.002318 0.003458 293 17 22 22 3 30 177 12 10 201186 19108 24744 6362 14378 21888 91890 18502 4314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 293 17 22 22 3 30 177 12 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1671444|COSM1671444|COSM1671444|COSM1671444|COSM1671444|COSM1671444 Upper aerodigestive tract|Thyroid|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system|Adrenal gland 0.003215|0.001339|0.000886|0.000283|0.000416|0.001595 1244|747|2257|3530|2406|627 transversion G T G>T 0.102 -1.489 R Arg AGG 0.207 S Ser AGT 0.149 804 7 2 Chimp -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Tolerated 0.92 IV.32 unknown 0.0 0.0 207 PASS . . . . . . 0.0056 0.0014 0.0099 0.011 0.0061 . . . . . 0.1755102 . . @ 43 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.029 . . 245.0 . . . . . . . . . . -1.8015 -1.897 -1.802 c . . . . . . . . . 0.0372 0.0740 0.0647 0.0780 0.1087 0.0897 0.0739 0.0541 0.0396 0.0804 0.0640 0.0702 0.1067 0.0965 0.0762 0.0536 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.019 . . exonic exonic exonic . . 0.100 0.0056 . . . 0.15 0.11 182 ENSG00000168594 ADAM29 ADAM29 . . . 0.000 0.012 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.012 . . 0.472 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.047 . 0.029 . HET 0.9 rs146933346 . . . . . . . . . . . . II.05 . . 0.439 -0.878 . . Q9UKF5 . . . . . 0.002 . . . 0.0005 0.0013 0.0009 0.0036 0.0002 0.0007 0.0017 0.0021 0.0014 0.0018 0.0027 0.0019 0 0.0008 0.0005 0.0042 0.0037 . . 0.133 . -1.571 -1.571000 . . . . . 1.0E-207 0.000 0.063 . 0.016 0.075 . 0.034 . 0.001 -1.571 -1.584 . . . rs146933346 rs146933346 1 1538 10 1/0 0,195,255 +. 4 177081353 C A - WDR17 16661 WD repeat domain 17 NM_170710.4 1 7521 3969 NP_733828.2 Q8IZU2 substitution intron GRCh37 177081353 177081353 Chr4(GRCh37):g.177081353C>A 2730+76 2730+76 NM_170710.4:c.2730+76C>A p.? p.? 20 20 609005 76 5' 82.5196 8.59441 0.904282 1.66521 82.5196 8.59441 0.904282 1.55438 0 transversion C A C>A 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.44827586 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.0805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000150627 WDR17 WDR17 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199899977 4 190862132 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution 5'UTR GRCh37 190862132 190862132 Chr4(GRCh37):g.190862132C>T -33 -33 NM_004477.2:c.-33C>T p.? p.? 1 601278 -95 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 IV.25 0 rs199899977 no no 0 0.000000 0 transition C T C>T 0.000 -0.279 187 PASS . . . . . . . . . . . . . . . . 0.12857144 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . UTR_5_PRIME(MODIFIER||||FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . 0.8439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.52 0.34 182 ENSG00000109536 FRG1 FRG1 . uc003izs.3:c.-33C>T NM_004477:c.-33C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs199899977 rs199899977 1 1538 10 1/0 0,244,255 +. 4 190862164 C CGACTTCTG - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 insertion 5'UTR GRCh37 190862164 190862165 Chr4(GRCh37):g.190862164_190862165insGACTTCTG -1 1 NM_004477.2:c.-1_1insGACTTCTG p.? p.? 1 601278 -62 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 6.26361 0 GACTTCTG 255 Pass . . . . . . . . . . . . . . . . 0.13636364 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 88 . . FRAME_SHIFT(HIGH||||FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000109536 FRG1 FRG1 . uc003izs.3:c.-1_0insGACTTCTG NM_004477:c.-1_0insGACTTCTG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,87 +rs868258562 4 190862169 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190862169 190862169 Chr4(GRCh37):g.190862169C>T 5 5 NM_004477.2:c.5C>T p.Ala2Val p.Ala2Val 1 601278 -58 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 IV.92 0 rs868258562 no no 0 0.000000 0 transition C T C>T 0.992 2.223 A Ala GCC 0.403 V Val GTC 0.240 2 11 10 C. elegans 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 99.13 64.43 Deleterious 0.02 III.46 bad 6.485E-4 0.0009511 182 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon1:c.C5T:p.A2V FRG1:NM_004477:exon1:c.C5T:p.A2V . . 0.11702128 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.658 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A2V|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . 0.2585 0.176 0.259 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.344 . . exonic exonic exonic . . 0.390 @ . . . . . . ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.497 0.027 . . 37 . 0.447 . . 0.532 . . . 0.306 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.485 . . 0 0 0 0 0 0 . 0.432 . . 0.453 . . . . . . 0 0.398 . . . . . 0.459 . 0.645 . LowAF 0.01 . . . . . . . . . . . . . X.75 . ENST00000226798 3.V 3.V . 0.010000 Q14331 . . . . . 0.330 . . 3.V . . . . . . . . . . . . . . . . . . . 0.072 . 2.249 2.249000 . . 0.010000 . . 1.0E-182 1.000 0.715 . 0.206 0.811 . 0.558 . 0.391 2.249 0.598 . . . . . 1 1538 10 1/0 0,230,255 +rs75403683 4 190862179 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution synonymous exon GRCh37 190862179 190862179 Chr4(GRCh37):g.190862179C>T 15 15 NM_004477.2:c.15C>T p.Ser5= p.Ser5Ser 1 601278 -48 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 4.52483 0 rs75403683 yes no Frequency 1 0.000000 0 0.000020 0.000065 0.000089 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000089 5 1 3 0 1 0 0 0 0 246000 15286 33574 9844 17244 30776 111498 22298 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 3 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes COSM1162321|COSM1162321 Thyroid|Pancreas 0.005355|0.000569 747|1758 transition C T C>T 0.016 -1.732 S Ser TCC 0.220 S Ser TCT 0.185 5 179 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon1:c.C15T:p.S5S FRG1:NM_004477:exon1:c.C15T:p.S5S . . 0.11111111 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 90.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S5|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . 0.8722 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0.0002 0 0 0 0 0 9.441e-06 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.47 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.542e-05 2.033e-05 8.935e-05 0 5.799e-05 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs75403683 rs75403683 1 1538 10 1/0 0,231,255 +rs113582021 4 190862204 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190862204 190862204 Chr4(GRCh37):g.190862204C>T 40 40 NM_004477.2:c.40C>T p.Leu14Phe p.Leu14Phe 1 601278 -23 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 4.30386 0 rs113582021 yes no Frequency 1 0.000000 0 0.000025 0.000291 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000291 7 7 0 0 0 0 0 0 0 276776 24024 34414 10148 18860 30780 126292 25794 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 7 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4403 13003 0 3 3 0 0.00068089 0.000230663 0 0.00068089 0.000230663 40 transition C T C>T 1.000 2.465 L Leu CTC 0.197 F Phe TTC 0.546 14 11 10 C. elegans 1 0 0 0 0 4.IX 5.II 111 132 22 C0 21.82 0.00 Tolerated 0.14 III.46 good 8.973E-2 0.001963 235 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon1:c.C40T:p.L14F FRG1:NM_004477:exon1:c.C40T:p.L14F . . 0.26 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.603 . @ . . . . . 1 0.456 . . 100.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L14F|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) 0.0007 0.0002 . 0.0007 0.0002 . . 0.2513 0.232 0.251 c . . . . . 3.157e-05 . . . 0.0004 4.452e-05 0 0 0 0 0 0 0.0004 3.785e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.394 . . exonic exonic exonic . . 0.444 @ . . . 0.51 0.51 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.449 . . . . T 0.361 0.015 . . 37 . 0.452 . . 0.296 . . . 0.383 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.439 . . 0.485 . . . . . . 0 0.371 . . . . . 0.506 . 0.554 . HET 0.12 . . . . . . . . . . . . . XI.97 8.03E-4 ENST00000226798 III.92 III.92 . 0.340000 Q14331 . . . 0.000231 . 0.319 . . III.92 0.0003 1.627e-05 0 0 0 0 0 0 0 0.0003 9.687e-05 0 0 0 0 0 0 . . 0.072 . 2.189 2.189000 . . 0.340000 . . 1.0E-235 1.000 0.715 . 0.389 0.990 . 0.558 . 0.391 2.189 0.598 0.0007 . . rs113582021 rs113582021 1 1538 10 1/0 0,240,255 +rs17797703 4 190862219 A G - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190862219 190862219 Chr4(GRCh37):g.190862219A>G 55 55 NM_004477.2:c.55A>G p.Thr19Ala p.Thr19Ala 1 601278 -8 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 4.68532 0 rs17797703 yes no Frequency/HapMap 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28626 7884 762 294 1462 0 13974 3360 890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 48 Genomes COSM4158958 Thyroid 0.006693 747 transition A G A>G 0.961 1.174 T Thr ACG 0.116 A Ala GCG 0.107 19 11 2 Chimp 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 175.03 0.00 Tolerated 0.76 III.46 good 5.297E-1 0.4787 250 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon1:c.A55G:p.T19A FRG1:NM_004477:exon1:c.A55G:p.T19A . . 0.3068182 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.104 . @ . . . . . 1 0.074 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|T19A|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . -1.0201 -0.831 -1.020 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . 0.344 @ . . . 0.48 0.43 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.125 . . . . T 0.040 0.002 . . 37 . 0.096 . . 0.326 . . . 0.004 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.051 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.034 . . . . . 0.290 . 0.315 . HET 0.79 . . . . . . . . . . . . . VII.93 . ENST00000226798 III.92 3.VIII . 0.750000 Q14331 . . . . . 0.035 . . 3.VIII . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.072 . 0.996 0.996000 . . 0.750000 . . 1.0E-250 0.921 0.317 . 0.083 0.803 . 0.273 . 0.030 0.996 -0.177 . rs17797703 rs17797703 rs17797703 rs17797703 1 1538 10 1/0 0,250,255 +. 4 190874147 AT A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 deletion intron GRCh37 190874153 190874153 Chr4(GRCh37):g.190874153del 260-70 260-70 NM_004477.2:c.260-70del p.? p.? 4 3 601278 -70 3' 82.1263 6.47639 0.87995 2.79856 82.1263 6.47639 0.87995 2.93584 0 rs111688662 yes no Frequency/1000G 2 0.000000 0 T 255 Pass . . . . . . . . . . . . . . . . 0.3962264 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111688662 rs111688662 1 1538 10 1.I 0,12,40 +rs62345275 4 190874175 A G - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190874175 190874175 Chr4(GRCh37):g.190874175A>G 260-48 260-48 NM_004477.2:c.260-48A>G p.? p.? 4 3 601278 -48 3' 82.1263 6.47639 0.87995 2.79856 82.1263 6.47639 0.87995 3.01824 0 rs62345275 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.279 218 PASS . . . . . . . . . . . . . . . . 0.20967741 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.2093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.16 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . rs4302017 rs4302017 rs4302017 rs4302017 1 1538 10 1/0 0,255,255 +rs17425201 4 190874255 A T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190874255 190874255 Chr4(GRCh37):g.190874255A>T 292 292 NM_004477.2:c.292A>T p.Thr98Ser p.Thr98Ser 4 601278 -26 5' 89.8591 9.60237 0.986255 0 89.8591 9.60237 0.986255 0 0 FRG1-like Fascin domain rs17425201 yes no Frequency 1 0.000000 0 0.000065 0.000219 0.000094 0.000000 0.000000 0.000035 0.000077 0.000000 0.000000 0.000219 15 3 3 0 0 1 8 0 0 230360 13708 32052 9272 16584 28198 103678 21774 5094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 3 3 0 0 1 8 0 0 0 0 0 0 0 0 0 0 0 RF 94 Exomes COSM225554|COSM225554|COSM225554|COSM225554|COSM225554|COSM225554 Skin|Prostate|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system|Breast 0.000812|0.000567|0.001793|0.000550|0.002079|0.000815 1232|1764|2231|3634|2405|2453 transversion A T A>T 1.000 3.353 T Thr ACG 0.116 S Ser TCG 0.056 98 11 10 Fruitfly 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 58.02 49.72 Tolerated 0.08 III.46 good 7.897E-1 0.01088 217 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon4:c.A292T:p.T98S FRG1:NM_004477:exon4:c.A292T:p.T98S . . 0.20588236 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.361 . @ . . . . . 1 0.494 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Tcg|T98S|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.4) . . . . . . . -0.2528 -0.061 -0.253 c . . . . . 1.090e-03 . . . 0.0021 0.0008 9.292e-05 0.0024 0 0.0010 0 6.807e-05 0.0010 0.0002 9.56e-05 0.0005 0 0.0001 0 6.847e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.520 . . exonic exonic exonic . . 0.416 @ . . . 0.52 0.51 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.335 0.014 . . 37 . 0.243 . . 0.087 . . . 0.033 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.612 . . 0 0 0 0 0 0 . 0.202 . . 0.277 . . . . . . 0 0.405 . . . . . 0.469 . 0.654 . HET 0.08 . . . . . . . . . . . . . 11.0497 . . III.71 III.71 . 0.170000 Q14331 . . . . . 0.698 . . III.71 0.0002 6.512e-05 9.36e-05 0 0 0 7.716e-05 0 3.546e-05 . . . . . . . . . . 0.924 . 1.645 1.645000 . . 0.170000 . . 1.0E-217 1.000 0.715 . 0.363 0.951 . 0.601 . 0.248 1.645 1.062 . rs17425201 rs17425201 rs1138717 rs1138717 1 1538 10 1/0 0,253,255 +rs111797658 4 190874290 T A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190874290 190874290 Chr4(GRCh37):g.190874290T>A 317+10 317+10 NM_004477.2:c.317+10T>A p.? p.? 4 4 601278 10 5' 89.8591 9.60237 0.986255 0 89.8591 9.60237 0.986255 0 0 rs111797658 yes no Frequency 1 0.000000 0 0.001258 0.000800 0.003107 0.000707 0.001066 0.001886 0.000778 0.001296 0.001350 0.003107 276 16 83 6 16 45 79 24 7 219346 19988 26718 8488 15016 23860 101574 18516 5186 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 276 16 83 6 16 45 79 24 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427150|COSM5427150 Large intestine|Haematopoietic and lymphoid tissue 0.001345|0.001376 2231|3634 transversion T A T>A 0.008 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.34146342 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.0879 . . . . . . . . 6.191e-03 . . . 0.0108 0.0064 0.0022 0.0079 0.0010 0.0089 0.0035 0.0026 0.0067 0.0020 0.0018 0.0029 0.0008 0.0013 0 0.0025 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.22 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0013 0.0030 0.0007 0.0011 0.0007 0.0009 0.0009 0.0019 0.0007 0.0010 0.0051 0 0.0007 0.0044 6.845e-05 0.0032 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111797658 rs111797658 1 1538 10 1/0 0,255,255 +rs879072641 4 190876137 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190876137 190876137 Chr4(GRCh37):g.190876137C>T 318-55 318-55 NM_004477.2:c.318-55C>T p.? p.? 5 4 601278 -55 3' 83.6483 4.86345 0.237358 1.91768 83.6483 4.86345 0.237358 1.79693 0 rs879072641 no no 0 0.000000 0 transition C T C>T 0.031 0.851 219 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.0883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17425208 4 190876196 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190876196 190876196 Chr4(GRCh37):g.190876196G>A 322 322 NM_004477.2:c.322G>A p.Ala108Thr p.Ala108Thr 5 601278 5 3' 83.6483 4.86345 0.237358 1.91768 83.6483 4.86345 0.23277 1.53087 -0.00644315 FRG1-like Fascin domain rs17425208 yes no Frequency 1 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000098 0.000009 0.000000 0.000000 0.000098 4 0 0 0 0 3 1 0 0 245614 15264 33532 9840 17238 30752 111232 22286 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 RF 98 Exomes COSM5763361 Large intestine 0.002241 2231 transition G A G>A 1.000 4.483 A Ala GCC 0.403 T Thr ACC 0.361 108 11 10 Fruitfly 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 99.13 29.38 Deleterious 0.03 III.46 bad 3.605E-3 0.001013 214 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon5:c.G322A:p.A108T FRG1:NM_004477:exon5:c.G322A:p.A108T . . 0.19791667 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.559 . @ . . . . . 1 0.771 . . 96.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A108T|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.5) . . . . . . . 0.3335 0.348 0.334 c . . . . . 9.472e-05 . . . 0 8.846e-05 0 0 0.0005 9.519e-05 0 0.0001 0 6.61e-05 0 0 0.0003 5.532e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.551 . . exonic exonic exonic . . 0.461 @ . . . 0.61 0.48 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.329 0.013 . . 37 . 0.511 . . 0.557 . . . 0.646 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.614 . . 0 0 0 0 0 0 . 0.411 . . 0.369 . . . . . . 0 0.427 . . . . . 0.647 . 0.825 . HET 0.03 . . . . . . . . . . . . . 14.145 . . 4.IV 4.IV . 0.290000 Q14331 . . . . . 0.823 . . 4.IV 0 1.629e-05 0 0 0 0 8.99e-06 0 9.755e-05 . . . . . . . . . . 0.830 . 1.964 1.964000 . . 0.290000 . . 1.0E-214 1.000 0.715 . 0.392 0.936 . 0.840 . 0.157 1.964 0.015 . rs1138719 rs1138719 rs17425208 rs17425208 1 1538 10 1/0 0,237,255 +rs200074469 4 190878504 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190878504 190878504 Chr4(GRCh37):g.190878504C>T 433-49 433-49 NM_004477.2:c.433-49C>T p.? p.? 6 5 601278 -49 3' 86.7742 7.88616 0.899795 3.92375 86.7742 7.88616 0.899795 3.73518 0 Cryptic Acceptor Weakly Activated 190878514 2.64713 0.024163 75.7057 2.49768 0.069212 78.9884 rs200074469 no no 0 0.000000 0 transition C T C>T 0.016 0.286 194 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.3515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.14 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs200074469 rs200074469 1 1538 10 1/0 0,255,255 +rs12643924 4 190878508 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190878508 190878508 Chr4(GRCh37):g.190878508C>T 433-45 433-45 NM_004477.2:c.433-45C>T p.? p.? 6 5 601278 -45 3' 86.7742 7.88616 0.899795 3.92375 86.7742 7.88616 0.899795 3.88904 0 Cryptic Acceptor Weakly Activated 190878514 2.64713 0.024163 75.7057 2.76194 0.043039 77.809 190878511 -13.8503 rs12643924 yes no Frequency 1 0.000000 0 0.000083 0.000191 0.000000 0.000227 0.000158 0.000000 0.000114 0.000000 0.000000 0.000227 18 3 0 2 2 0 11 0 0 215778 15706 29100 8824 12640 23824 96658 23748 5278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 3 0 2 2 0 11 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.924 221 PASS . . . . . . . . . . . . . . . . 0.2195122 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.3084 . . . . . . . . 4.823e-05 . . . 0 5.276e-05 0.0002 0 0 3.719e-05 0 0 0 4.734e-05 0.0002 0 0 3.187e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.15 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12643924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 9.153e-05 0 0.0002 0.0002 0 0.0001 0 0 0 3.329e-05 0 0 0 0 6.786e-05 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs12643924 rs12643924 rs12643924 rs12643924 1 1538 10 1/0 0,255,255 +rs189762674 4 190878580 A G - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190878580 190878580 Chr4(GRCh37):g.190878580A>G 460 460 NM_004477.2:c.460A>G p.Ser154Gly p.Ser154Gly 6 601278 28 3' 86.7742 7.88616 0.899795 3.92375 86.7742 7.88616 0.899795 4.55093 0 Cryptic Acceptor Strongly Activated 190878594 0.512643 3.02226 0.540567 70.8554 FRG1-like rs189762674 yes no Frequency 1 0.000000 0 COSM4331500 Large intestine 0.000896 2231 transition A G A>G 1.000 2.627 S Ser AGC 0.243 G Gly GGC 0.342 154 11 10 C. elegans 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 55.27 0.00 Tolerated 0.35 III.46 good 5.015E-1 0.001122 184 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon6:c.A460G:p.S154G FRG1:NM_004477:exon6:c.A460G:p.S154G . . 0.12258065 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.109 . @ . . . . . 1 0.012 . . 155.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S154G|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.6) . . . . . . . -0.4361 -0.265 -0.436 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . 0.485 @ . . . 0.58 0.34 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.290 0.011 . . 37 . 0.244 . . 0.073 . . . 0.240 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.206 . . 0.275 . . . . . . 0 0.051 . . . . . 0.499 . 0.715 . LowAF 0.79 . . . . . . . . . . . . . XI.49 . . IV.19 IV.19 . 1.000000 Q14331 . . . . . 0.516 . . IV.19 . . . . . . . . . . . . . . . . . . . 0.730 . 1.677 1.677000 . . 1.000000 . . 9.999999999999999E-185 1.000 0.715 . 0.604 1.000 . 0.650 . 0.217 1.677 1.039 . . . rs189762674 rs189762674 1 1538 10 1/0 0,209,255 +rs79943820 4 190878662 T C - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution splice site GRCh37 190878662 190878662 Chr4(GRCh37):g.190878662T>C 537+5 537+5 NM_004477.2:c.537+5T>C p.? p.? 6 6 601278 5 5' 82.2818 8.99306 0.977393 0 81.9786 X.32 0.977869 0 0.0434168 rs79943820 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000026 0.000000 0.000000 0.000000 0.000372 0.000000 0.000000 0.000000 0.000000 0.000372 7 0 0 0 7 0 0 0 0 274428 23278 34402 10092 18828 30714 124946 25744 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4331503|COSM4331503|COSM4331503 Upper aerodigestive tract|Skin|Large intestine 0.000804|0.002435|0.006723 1244|1232|2231 transition T C T>C 0.780 0.851 185 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.12435233 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 193.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.8600 . . . . . . . . 1.585e-05 . . . 0 2.281e-05 0 0.0002 0 0 0 6.146e-05 0 1.949e-05 0 0.0001 0 0 0 6.182e-05 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.58 0.27 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.008 . . . . . . 2.I 0 2.874e-05 0 0 0.0004 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs79943820 rs79943820 1 1538 10 1/0 0,200,255 +rs78503302 4 190878700 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190878700 190878700 Chr4(GRCh37):g.190878700G>A 537+43 537+43 NM_004477.2:c.537+43G>A p.? p.? 6 6 601278 43 5' 82.2818 8.99306 0.977393 0 82.2818 8.99306 0.977393 0 0 Cryptic Donor Strongly Activated 190878702 2.89923 0.013208 67.272 3.24636 0.025657 70.02 rs78503302 yes no Frequency 1 0.000000 0 0.000019 0.000000 0.000102 0.000000 0.000000 0.000000 0.000011 0.000000 0.000000 0.000102 4 0 3 0 0 0 1 0 0 214272 17486 29436 9170 13468 24682 91496 23082 5452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 3 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.602 190 PASS . . . . . . . . . . . . . . . . 0.13513513 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.2003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.23 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.179e-05 0.0001 0 0 0 1.307e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . rs78503302 rs78503302 1 1538 10 1/0 0,213,255 +rs28629891 4 190881826 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190881826 190881826 Chr4(GRCh37):g.190881826G>A 538-77 538-77 NM_004477.2:c.538-77G>A p.? p.? 7 6 601278 -77 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.30708 0 rs28629891 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30278 8450 828 300 1576 0 14776 3396 952 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition G A G>A 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.53097343 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.1609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.61 0.17 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28629891 rs28629891 rs28629891 rs28629891 1 1538 10 1/0 0,253,255 +rs11940164 4 190881840 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190881840 190881840 Chr4(GRCh37):g.190881840C>T 538-63 538-63 NM_004477.2:c.538-63C>T p.? p.? 7 6 601278 -63 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.79474 0 Cryptic Acceptor Strongly Activated 190881847 3.4e-05 63.5199 0.114003 9.5e-05 65.0306 rs11940164 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30088 8386 828 300 1550 0 14688 3378 958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition C T C>T 0.000 -1.167 219 PASS . . . . . . . . . . . . . . . . 0.2109375 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.5888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.11 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11940164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs11940164 rs11940164 rs11940164 rs112655458 1 1538 10 1/0 0,226,255 +rs7440511 4 190881854 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190881854 190881854 Chr4(GRCh37):g.190881854G>A 538-49 538-49 NM_004477.2:c.538-49G>A p.? p.? 7 6 601278 -49 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.36387 0 rs7440511 yes no Frequency/1000G 2 0.000000 0 transition G A G>A 0.000 0.448 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.0930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.63 0.15 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs7440511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs7440511 rs7440511 rs7440511 rs7440511 1 1538 10 1/0 0,215,255 +rs199856392 4 190881895 A T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190881895 190881895 Chr4(GRCh37):g.190881895A>T 538-8 538-8 NM_004477.2:c.538-8A>T p.? p.? 7 6 601278 -8 3' 76.2123 7.28726 0.830359 2.45928 81.3919 8.14304 0.961409 4.14867 0.114407 Cryptic Acceptor Strongly Activated 190881903 7.28726 0.830359 76.2123 8.14304 0.961409 81.3919 rs199856392 yes no Frequency 1 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000000 0.000088 0.000080 0.000066 0.000000 0.000088 6 0 0 0 0 1 4 1 0 117944 9120 15738 2606 11506 11362 49944 15052 2616 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 1 4 1 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes COSM5425150 Haematopoietic and lymphoid tissue 0.000550 3634 transversion A T A>T 0.000 -0.440 224 PASS . . . . . . . . . . . . . . . . 0.22377622 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.1085 . . . . . . . . 2.507e-05 . . . 0.0005 0.0001 0 0.0006 0 0 0 0 0.0007 0.0002 0 0.0007 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.65 0.25 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.02 . . . . . . . 0 5.087e-05 0 0 0 6.644e-05 8.009e-05 0 8.801e-05 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs77164210 rs199856392 1 1538 10 1/0 0,222,255 +rs199588911 4 190883026 G T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190883026 190883026 Chr4(GRCh37):g.190883026G>T 679 679 NM_004477.2:c.679G>T p.Asp227Tyr p.Asp227Tyr 8 601278 50 3' 93.2901 6.39317 0.906131 0 93.2901 6.39317 0.906131 0 0 FRG1-like rs199588911 yes no Frequency 1 0.000000 0 COSM4005732|COSM4005732 Urinary tract|Central nervous system 0.001488|0.000416 672|2405 transversion G T G>T 1.000 4.967 D Asp GAC 0.539 Y Tyr TAC 0.562 227 11 11 C. elegans -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C65 0.00 159.94 Deleterious 0 III.46 bad 1.721E-4 0.0001552 253 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon8:c.G679T:p.D227Y FRG1:NM_004477:exon8:c.G679T:p.D227Y . . 0.32258064 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.669 . @ . . . . . 1 0.671 . . 31.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D227Y|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.8) . . . . . . . 0.5719 0.570 0.572 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.382 . . exonic exonic exonic . . 0.466 @ . . . 0.75 0.49 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.713 0.071 . . 37 . 0.437 . . 0.483 . . . 0.181 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.830 . . 0 0 0 0 0 0 . 0.764 . . 0.688 . . . . . . 0 0.784 . . . . . 0.651 . 0.793 . HET 0 . . . . . . . . . . . . . 14.2049 . . 4.VII 4.VII . 0.010000 Q14331 . . . . . 0.924 . . 4.VII . . . . . . . . . . . . . . . . . . . 0.522 . 1.997 1.997000 . . 0.010000 . . 1.0E-253 1.000 0.715 . 0.697 0.999 . 0.965 . 0.432 1.997 0.897 . . . rs199588911 rs199588911 1 1538 10 1/0 0,255,255 +rs1803593 4 190883051 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190883051 190883051 Chr4(GRCh37):g.190883051G>A 704 704 NM_004477.2:c.704G>A p.Arg235Gln p.Arg235Gln 8 601278 -37 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 FRG1-like rs1803593 yes no Frequency 1 0.000000 0 0.000231 0.000673 0.000297 0.000000 0.000722 0.000074 0.000119 0.000325 0.000000 0.000722 58 13 9 0 12 2 14 8 0 250714 19330 30324 9638 16620 27104 117208 24640 5850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 13 9 0 12 2 14 8 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1716000|COSM1716000|COSM1716000 Upper aerodigestive tract|Small intestine|Large intestine 0.004019|0.018182|0.000896 1244|55|2231 transition G A G>A 1.000 3.353 R Arg CGG 0.207 Q Gln CAG 0.744 235 11 9 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 56.64 0.00 Tolerated 0.36 III.46 good 5.871E-1 0.001616 254 PASS . . . . . . . . . . . ENSG00000109536:ENST00000226798:exon8:c.G704A:p.R235Q FRG1:uc003izs.3:exon8:c.G704A:p.R235Q FRG1:NM_004477:exon8:c.G704A:p.R235Q . . 0.3243243 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.534 . @ . . . . . 1 0.407 . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R235Q|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.8) . . . . . . . -0.1426 -0.045 -0.143 c . . . . . 3.167e-05 . . . 0.0001 4.651e-05 8.688e-05 0.0002 0 2.552e-05 0 0 0.0001 3.902e-05 8.938e-05 0.0001 0 1.914e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.344 . . exonic exonic exonic . . 0.360 @ . . . 0.72 0.54 182 ENSG00000109536 FRG1 FRG1 . . . 0.998 0.365 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.617 0.045 . . 37 . 0.282 . . 0.078 . . . . 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.283 . . 0 0 0 0 0 0 . 0.303 . . 0.282 . . . . . . 0 0.245 . . . . . 0.419 . 0.549 . HET 0.22 . . . . . . . . . . . . . 10.172 . ENST00000226798 4.VII III.23 . 0.100000 Q14331 . . . . . 0.714 . . III.23 0.0001 8.326e-05 0.0002 0 0.0003 0 4.747e-05 0 7.379e-05 0.0020 0.0017 0.0066 0 0.0076 0.0032 0.0008 0 . . 0.522 . 0.849 0.849000 . . 0.100000 . . 1.0000000000000001E-254 1.000 0.715 . 0.529 0.988 . 0.727 . 0.067 0.849 -0.024 . rs1803593 rs1803593 rs1803593 rs1803593 1 1538 10 1/0 0,255,255 +rs201652217 4 190883073 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution synonymous exon GRCh37 190883073 190883073 Chr4(GRCh37):g.190883073G>A 726 726 NM_004477.2:c.726G>A p.Glu242= p.Glu242Glu 8 601278 -15 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 FRG1-like rs201652217 yes no Frequency 1 0.000000 0 transition G A G>A 1.000 1.416 E Glu GAG 0.583 E Glu GAA 0.417 242 211 PASS . . . . . . . . . . . ENSG00000109536:ENST00000226798:exon8:c.G726A:p.E242E FRG1:uc003izs.3:exon8:c.G726A:p.E242E FRG1:NM_004477:exon8:c.G726A:p.E242E . . 0.1904762 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 42.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E242|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.8) . . . . . . . 1.1721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.55 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . rs201652217 rs201652217 1 1538 10 1/0 0,255,255 +rs77771487 4 190883110 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190883110 190883110 Chr4(GRCh37):g.190883110C>T 740+23 740+23 NM_004477.2:c.740+23C>T p.? p.? 8 8 601278 23 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 Cryptic Acceptor Strongly Activated 190883123 5.14993 0.317002 82.6585 5.42663 0.617763 85.7742 rs77771487 yes no Frequency 1 0.000000 0 0.000119 0.000109 0.000257 0.000122 0.000368 0.000091 0.000084 0.000000 0.000412 0.000368 26 2 5 1 5 2 9 0 2 218566 18412 19438 8198 13602 21974 107506 24582 4854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 2 5 1 5 2 9 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.044 221 PASS . . . . . . . . . . . . . . . . 0.2195122 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.0110 . . . . . . . . 8.026e-05 . . . 0.0001 0.0001 8.718e-05 0 0 0.0002 0 0 0.0001 7.819e-05 8.951e-05 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.24 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.363e-05 0.0003 0.0001 0.0002 0 6.367e-05 0.0005 9.102e-05 0.0003 0.0003 0 0 0.0024 0 0.0002 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs77771487 rs77771487 1 1538 10 1/0 0,255,255 +. 4 190883117 T C - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190883117 190883117 Chr4(GRCh37):g.190883117T>C 740+30 740+30 NM_004477.2:c.740+30T>C p.? p.? 8 8 601278 30 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 transition T C T>C 0.000 0.286 203 PASS . . . . . . . . . . . . . . . . 0.17142858 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.0743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs797040399 4 190943039 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943039 190943039 Chr4(GRCh37):g.190943039G>A 782 782 XR_171482.2:n.782C>T 1 615581 -501 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797040399 no no 0 0.000000 0 0.000178 0.000134 0.001520 0.010638 0.000000 0.000000 0.000000 0.000316 0.000000 0.010638 4 1 1 1 0 0 0 1 0 22484 7448 658 94 1248 0 9128 3162 746 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 66 Genomes transition C T C>T 0.000 -1.570 243 PASS . . . . . . . . . . . . . . . . 0.29032257 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . . . . . . . . . -0.7214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37011\x3bdist\x3d2484 dist\x3d58680\x3bdist\x3d2484 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0002 0.0015 0.0106 0 0.0003 0 0 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190943040 G C - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943040 190943040 Chr4(GRCh37):g.190943040G>C 781 781 XR_171482.2:n.781C>G 1 615581 -502 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 transversion C G C>G 0.000 -0.521 207 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 33.0 . . . . . . . . . . -0.4687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37012\x3bdist\x3d2483 dist\x3d58681\x3bdist\x3d2483 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190943171 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943171 190943171 Chr4(GRCh37):g.190943171G>A 650 650 XR_171482.2:n.650C>T 1 615581 -633 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 8 0 0 0 0 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 12895 Genomes transition C T C>T 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.84210527 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . . . . . . . . . -0.5007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37143\x3bdist\x3d2352 dist\x3d58812\x3bdist\x3d2352 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 0.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79787961 rs79787961 1 1538 10 1/0 0,255,255 +rs376772345 4 190943177 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943177 190943177 Chr4(GRCh37):g.190943177G>A 644 644 XR_171482.2:n.644C>T 1 615581 -639 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Weakly Activated 190943163 4.94857 0.055471 73.3108 5.08971 0.06267 76.0836 rs376772345 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 14 0 0 0 0 12 4 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 7482 Genomes transition C T C>T 0.055 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.8 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 20.0 . . . . . . . . . . -0.5136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37149\x3bdist\x3d2346 dist\x3d58818\x3bdist\x3d2346 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75602111 rs376772345 1 1538 10 1/0 0,255,255 +. 4 190943185 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943185 190943185 Chr4(GRCh37):g.190943185C>T 636 636 XR_171482.2:n.636G>A 1 615581 -647 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.005988 0.000000 0.000000 0.000000 0.000000 0.000000 0.021277 0.000000 0.000000 0.021277 2 0 0 0 0 0 2 0 0 334 134 18 4 10 0 94 62 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 840 Genomes transition G A G>A 0.000 -1.489 212 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . . . . . . . . . -0.7221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37157\x3bdist\x3d2338 dist\x3d58826\x3bdist\x3d2338 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0060 0 0 0 0 0.0213 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . rs71206217 . . 1 1538 10 1/0 0,255,255 +. 4 190943200 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943200 190943200 Chr4(GRCh37):g.190943200G>A 621 621 XR_171482.2:n.621C>T 1 615581 -662 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.002392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.050000 0.000000 0.050000 1 0 0 0 0 0 0 1 0 418 144 12 6 22 0 210 20 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 1044 Genomes transition C T C>T 0.087 1.255 194 PASS . . . . . . . . . . . . . . . . 0.14492753 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . . . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37172\x3bdist\x3d2323 dist\x3d58841\x3bdist\x3d2323 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0024 0 0 0 0.05 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs4995439 rs4995439 . . 1 1538 10 1/0 0,246,255 +. 4 190943220 C A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943220 190943220 Chr4(GRCh37):g.190943220C>A 601 601 XR_171482.2:n.601G>T 1 615581 -682 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943208 7.80821 0.866974 79.3089 X.36 0.9546 85.0376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 548 108 14 4 20 0 364 28 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1087 Genomes transversion G T G>T 0.157 0.448 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . . . . . . . . . 0.0557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37192\x3bdist\x3d2303 dist\x3d58861\x3bdist\x3d2303 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 4 190943227 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943227 190943227 Chr4(GRCh37):g.190943227C>T 594 594 XR_171482.2:n.594G>A 1 615581 -689 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 634 70 18 8 20 0 332 162 24 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 857 Genomes transition G A G>A 0.197 0.448 215 PASS . . . . . . . . . . . . . . . . 0.25555557 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 90.0 . . . . . . . . . . -0.2828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37199\x3bdist\x3d2296 dist\x3d58868\x3bdist\x3d2296 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +. 4 190943239 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943239 190943239 Chr4(GRCh37):g.190943239G>A 582 582 XR_171482.2:n.582C>T 1 615581 -701 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.001114 0.000610 0.000000 0.000000 0.000000 0.000000 0.000420 0.003948 0.000000 0.003948 16 3 0 0 0 0 2 11 0 14362 4916 500 34 850 0 4762 2786 514 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 0 0 0 0 2 11 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.110 -0.360 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 105.0 . . . . . . . . . . -0.4689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37211\x3bdist\x3d2284 dist\x3d58880\x3bdist\x3d2284 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0011 0 0 0 0.0039 0.0004 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 4 190943244 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943244 190943244 Chr4(GRCh37):g.190943244G>T 577 577 XR_171482.2:n.577C>A 1 615581 -706 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 transversion C A C>A 0.094 0.044 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 116.0 . . . . . . . . . . -0.0859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37216\x3bdist\x3d2279 dist\x3d58885\x3bdist\x3d2279 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 4 190943267 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943267 190943267 Chr4(GRCh37):g.190943267G>A 554 554 XR_171482.2:n.554C>T 1 615581 -729 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.004156 0.001610 0.002232 0.000000 0.000000 0.000000 0.002030 0.014790 0.002358 0.014790 47 6 1 0 0 0 8 31 1 11308 3726 448 34 640 0 3940 2096 424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 6 1 0 0 0 8 30 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition C T C>T 0.000 1.335 133 PASS . . . . . . . . . . . . . . . . 0.14569536 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . . . . . . . . . -0.1764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37239\x3bdist\x3d2256 dist\x3d58908\x3bdist\x3d2256 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0042 0.0022 0 0 0.0148 0.0020 0.0024 . . . . . . . . . . . 1.0E-133 . . . . . . . . . . . . rs36178874 rs36178874 . . 1 1538 16 1/0 0,216,255 +rs142375635 4 190943269 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943269 190943269 Chr4(GRCh37):g.190943269G>A 552 552 XR_171482.2:n.552C>T 1 615581 -731 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Donor Strongly Activated 190943271 66.4962 9.74045 0.844278 75.9381 rs142375635 yes no Frequency 1 0.000000 0 0.002586 0.001782 0.007843 0.000000 0.003275 0.000000 0.000890 0.006142 0.003571 0.007843 40 9 4 0 3 0 5 17 2 15466 5050 510 42 916 0 5620 2768 560 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 9 4 0 3 0 5 17 2 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition C T C>T 0.000 -3.023 181 PASS . . . . . . . . . . . . . . . . 0.17333333 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 150.0 . . . . . . . . . . -0.8886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.45 182 ENSG00000224807 . . . dist\x3d37241\x3bdist\x3d2254 dist\x3d58910\x3bdist\x3d2254 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0026 0.0078 0 0.0033 0.0061 0.0009 0.0036 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs142375635 rs142375635 1 1538 10 1/0 0,216,255 +. 4 190943271 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943271 190943271 Chr4(GRCh37):g.190943271C>T 550 550 XR_171482.2:n.550G>A 1 615581 -733 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 New Acceptor Site 190943269 3.45842 0.466786 73.3224 0.002002 0.000522 0.007092 0.000000 0.000000 0.000000 0.000982 0.006676 0.003135 0.007092 34 3 4 0 0 0 6 19 2 16986 5752 564 46 1030 0 6110 2846 638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 3 4 0 0 0 6 19 2 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition G A G>A 0.000 -0.360 191 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 153.0 . . . . . . . . . . -0.4177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37243\x3bdist\x3d2252 dist\x3d58912\x3bdist\x3d2252 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0020 0.0071 0 0 0.0067 0.0010 0.0031 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +rs143695007 4 190943280 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943280 190943280 Chr4(GRCh37):g.190943280C>T 541 541 XR_171482.2:n.541G>A 1 615581 -742 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs143695007 no no 0 0.000000 0 0.002453 0.000867 0.005682 0.000000 0.001969 0.000000 0.001002 0.006781 0.004525 0.006781 27 3 2 0 1 0 4 15 2 11008 3462 352 38 508 0 3994 2212 442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 3 2 0 1 0 4 15 2 0 0 0 0 0 0 0 0 0 RF 59 Genomes transition G A G>A 0.000 -1.247 129 PASS . . . . . . . . . . . . . . . . 0.18343195 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 169.0 . . . . . . . . . . -0.5237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.41 182 ENSG00000224807 . . . dist\x3d37252\x3bdist\x3d2243 dist\x3d58921\x3bdist\x3d2243 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0025 0.0057 0 0.0020 0.0068 0.0010 0.0045 . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . rs36187862 . rs143695007 rs143695007 1 1538 10 1/0 0,217,255 +rs557366453 4 190943311 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943311 190943311 Chr4(GRCh37):g.190943311C>T 510 510 XR_171482.2:n.510G>A 1 615581 -773 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Donor Strongly Activated 190943310 0.003188 59.6275 1.069 0.017983 68.5883 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16126 5280 570 52 944 0 5490 3196 594 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transition G A G>A 0.008 1.255 112 PASS . . . . . . . . . . . . . . . . 0.12790698 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 172.0 . . . . . . . . . . -0.2373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . 0.0004 . . . . . . ENSG00000224807 . . . dist\x3d37283\x3bdist\x3d2212 dist\x3d58952\x3bdist\x3d2212 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-112 . . . . . . . . . . . . rs36132895 rs36132895 . . 1 1538 10 1/0 0,210,255 +. 4 190943321 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943321 190943321 Chr4(GRCh37):g.190943321G>A 500 500 XR_171482.2:n.500C>T 1 615581 -783 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.008673 0.014019 0.010582 0.000000 0.001241 0.000000 0.002402 0.017975 0.007614 0.017975 89 33 4 0 1 0 10 38 3 10262 2354 378 52 806 0 4164 2114 394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition C T C>T 0.031 1.255 139 PASS . . . . . . . . . . . . . . . . 0.1736527 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 167.0 . . . . . . . . . . -0.1216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37293\x3bdist\x3d2202 dist\x3d58962\x3bdist\x3d2202 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0140 0.0087 0.0106 0 0.0012 0.0180 0.0024 0.0076 . . . . . . . . . . . 1.0E-139 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +rs201786386 4 190943350 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943350 190943350 Chr4(GRCh37):g.190943350G>A 471 471 XR_171482.2:n.471C>T 1 615581 -812 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs201786386 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7676 2332 328 18 346 0 1918 2446 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 54 Genomes transition C T C>T 0.000 -0.198 102 PASS . . . . . . . . . . . . . . . . 0.13571429 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 140.0 . . . . . . . . . . -0.4538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.53 0.41 182 ENSG00000224807 . . . dist\x3d37322\x3bdist\x3d2173 dist\x3d58991\x3bdist\x3d2173 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . . rs36171104 rs36171104 rs201786386 rs201786386 1 1538 10 1/0 0,222,255 +rs199941505 4 190943352 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943352 190943352 Chr4(GRCh37):g.190943352G>A 469 469 XR_171482.2:n.469C>T 1 615581 -814 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943343 0.011383 68.0548 1.28278 0.033639 70.7666 rs199941505 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4622 1348 172 6 214 0 1180 1506 196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 79 Genomes transition C T C>T 0.000 0.205 150 PASS . . . . . . . . . . . . . . . . 0.15172414 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 145.0 . . . . . . . . . . -0.2240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.38 182 ENSG00000224807 . . . dist\x3d37324\x3bdist\x3d2171 dist\x3d58993\x3bdist\x3d2171 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . . rs199941505 rs199941505 1 1538 10 1/0 0,217,255 +. 4 190943354 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943354 190943354 Chr4(GRCh37):g.190943354G>A 467 467 XR_171482.2:n.467C>T 1 615581 -816 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943343 0.011383 68.0548 1.13117 0.026979 72.1567 0.000235 0.000903 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000903 1 1 0 0 0 0 0 0 0 4248 1108 136 10 228 0 1126 1446 194 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 82 Genomes transition C T C>T 0.000 -1.247 115 PASS . . . . . . . . . . . . . . . . 0.13605443 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 147.0 . . . . . . . . . . -0.3849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37326\x3bdist\x3d2169 dist\x3d58995\x3bdist\x3d2169 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 4 190943357 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943357 190943357 Chr4(GRCh37):g.190943357C>T 464 464 XR_171482.2:n.464G>A 1 615581 -819 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 transition G A G>A 0.000 -0.037 146 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 152.0 . . . . . . . . . . -0.2759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37329\x3bdist\x3d2166 dist\x3d58998\x3bdist\x3d2166 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 4 190943392 C G - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943392 190943392 Chr4(GRCh37):g.190943392C>G 429 429 XR_171482.2:n.429G>C 1 615581 -854 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943383 0.000389 3.81256 0.002321 73.7325 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 522 92 12 2 36 0 108 256 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 296 Genomes transversion G C G>C 0.957 1.416 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37364\x3bdist\x3d2131 dist\x3d59033\x3bdist\x3d2131 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +rs199851961 4 190943414 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943414 190943414 Chr4(GRCh37):g.190943414G>T 407 407 XR_171482.2:n.407C>A 1 615581 -876 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs199851961 yes no Frequency 1 0.000000 0 transversion C A C>A 0.744 1.416 178 PASS . . . . . . . . . . . . . . . . 0.108333334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 120.0 . . . . . . . . . . -0.1353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.55 0.35 182 ENSG00000224807 . . . dist\x3d37386\x3bdist\x3d2109 dist\x3d59055\x3bdist\x3d2109 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs199851961 rs199851961 1 1538 10 1/0 0,221,255 +. 4 190943420 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943420 190943420 Chr4(GRCh37):g.190943420G>A 401 401 XR_171482.2:n.401C>T 1 615581 -882 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 16 0 0 6 0 8 38 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1151 Genomes transition C T C>T 0.949 1.416 141 PASS . . . . . . . . . . . . . . . . 0.1559633 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 109.0 . . . . . . . . . . -0.0163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37392\x3bdist\x3d2103 dist\x3d59061\x3bdist\x3d2103 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-141 . . . . . . . . . . . . . rs71191802 . . 1 1538 10 1/0 0,232,255 +rs797033790 4 190943446 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943446 190943446 Chr4(GRCh37):g.190943446C>T 375 375 XR_171482.2:n.375G>A 1 615581 -908 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797033790 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.378 -1.893 231 PASS . . . . . . . . . . . . . . . . 0.24691358 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . . . . . . . . -0.7162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37418\x3bdist\x3d2077 dist\x3d59087\x3bdist\x3d2077 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +rs374777031 4 190943451 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943451 190943451 Chr4(GRCh37):g.190943451G>T 370 370 XR_171482.2:n.370C>A 1 615581 -913 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 New Acceptor Site 190943449 3.10351 0.213345 71.7195 rs374777031 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.378 -0.198 246 PASS . . . . . . . . . . . . . . . . 0.29545453 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 88.0 . . . . . . . . . . -0.3758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37423\x3bdist\x3d2072 dist\x3d59092\x3bdist\x3d2072 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . rs374777031 rs374777031 1 1538 10 1/0 0,253,255 +rs797024656 4 190943538 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943538 190943538 Chr4(GRCh37):g.190943538G>T 283 283 XR_171482.2:n.283C>A 1 615581 -1000 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797024656 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.000 -3.507 229 PASS . . . . . . . . . . . . . . . . 0.28846154 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . . . . . . . . . -1.0310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37510\x3bdist\x3d1985 dist\x3d59179\x3bdist\x3d1985 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs797024656 4 190943538 G T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943538 190943538 Chr4(GRCh37):g.190943538G>T *3178 *3178 NM_001286820.1:c.*3178C>A p.? p.? 4 609032 3684 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797024656 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.000 -3.507 229 PASS . . . . . . . . . . . . . . . . 0.28846154 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . . . . . . . . . -1.0310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37510\x3bdist\x3d1985 dist\x3d59179\x3bdist\x3d1985 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs376892850 4 190943546 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943546 190943546 Chr4(GRCh37):g.190943546G>T 275 275 XR_171482.2:n.275C>A 1 615581 -1008 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs376892850 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.000 -2.297 243 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 106.0 . . . . . . . . . . -0.8962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37518\x3bdist\x3d1977 dist\x3d59187\x3bdist\x3d1977 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs376892850 rs376892850 1 1538 10 1/0 0,239,255 +rs376892850 4 190943546 G T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943546 190943546 Chr4(GRCh37):g.190943546G>T *3170 *3170 NM_001286820.1:c.*3170C>A p.? p.? 4 609032 3676 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs376892850 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.000 -2.297 243 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 106.0 . . . . . . . . . . -0.8962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37518\x3bdist\x3d1977 dist\x3d59187\x3bdist\x3d1977 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs376892850 rs376892850 1 1538 10 1/0 0,239,255 +rs797038817 4 190943555 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943555 190943555 Chr4(GRCh37):g.190943555C>T 266 266 XR_171482.2:n.266G>A 1 615581 -1017 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797038817 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.024 0.286 129 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37527\x3bdist\x3d1968 dist\x3d59196\x3bdist\x3d1968 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . rs36152473 rs36152473 . . 1 1538 10 1/0 0,226,255 +rs797038817 4 190943555 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943555 190943555 Chr4(GRCh37):g.190943555C>T *3161 *3161 NM_001286820.1:c.*3161G>A p.? p.? 4 609032 3667 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797038817 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.024 0.286 129 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37527\x3bdist\x3d1968 dist\x3d59196\x3bdist\x3d1968 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . rs36152473 rs36152473 . . 1 1538 10 1/0 0,226,255 +rs797036995 4 190943573 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943573 190943573 Chr4(GRCh37):g.190943573C>T 248 248 XR_171482.2:n.248G>A 1 615581 -1035 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797036995 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.008 0.851 181 PASS . . . . . . . . . . . . . . . . 0.17730497 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 141.0 . . . . . . . . . . -0.1926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37545\x3bdist\x3d1950 dist\x3d59214\x3bdist\x3d1950 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs797036995 4 190943573 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943573 190943573 Chr4(GRCh37):g.190943573C>T *3143 *3143 NM_001286820.1:c.*3143G>A p.? p.? 4 609032 3649 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797036995 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.008 0.851 181 PASS . . . . . . . . . . . . . . . . 0.17730497 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 141.0 . . . . . . . . . . -0.1926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37545\x3bdist\x3d1950 dist\x3d59214\x3bdist\x3d1950 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs797024262 4 190943582 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943582 190943582 Chr4(GRCh37):g.190943582C>T 239 239 XR_171482.2:n.239G>A 1 615581 -1044 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797024262 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 19473 Genomes transition G A G>A 0.000 -0.924 160 PASS . . . . . . . . . . . . . . . . 0.1030303 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 165.0 . . . . . . . . . . -0.5244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37554\x3bdist\x3d1941 dist\x3d59223\x3bdist\x3d1941 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.08 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . rs36103403 rs36103403 . . 1 1538 10 1/0 0,205,255 +rs797024262 4 190943582 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943582 190943582 Chr4(GRCh37):g.190943582C>T *3134 *3134 NM_001286820.1:c.*3134G>A p.? p.? 4 609032 3640 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797024262 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 19473 Genomes transition G A G>A 0.000 -0.924 160 PASS . . . . . . . . . . . . . . . . 0.1030303 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 165.0 . . . . . . . . . . -0.5244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37554\x3bdist\x3d1941 dist\x3d59223\x3bdist\x3d1941 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.08 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . rs36103403 rs36103403 . . 1 1538 10 1/0 0,205,255 +rs797039522 4 190943585 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943585 190943585 Chr4(GRCh37):g.190943585C>T 236 236 XR_171482.2:n.236G>A 1 615581 -1047 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797039522 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 0 2 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13125 Genomes transition G A G>A 0.000 -1.974 115 PASS . . . . . . . . . . . . . . . . 0.11299435 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 177.0 . . . . . . . . . . -0.7528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37557\x3bdist\x3d1938 dist\x3d59226\x3bdist\x3d1938 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . 0 0 0 . . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . rs34867517 rs34867517 . . 1 1538 16 1/0 0,206,255 +rs797039522 4 190943585 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943585 190943585 Chr4(GRCh37):g.190943585C>T *3131 *3131 NM_001286820.1:c.*3131G>A p.? p.? 4 609032 3637 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797039522 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 0 2 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13125 Genomes transition G A G>A 0.000 -1.974 115 PASS . . . . . . . . . . . . . . . . 0.11299435 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 177.0 . . . . . . . . . . -0.7528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37557\x3bdist\x3d1938 dist\x3d59226\x3bdist\x3d1938 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . 0 0 0 . . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . rs34867517 rs34867517 . . 1 1538 16 1/0 0,206,255 +rs797044193 4 190943603 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943603 190943603 Chr4(GRCh37):g.190943603C>T 218 218 XR_171482.2:n.218G>A 1 615581 -1065 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797044193 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 4 4 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8307 Genomes transition G A G>A 0.000 1.416 149 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 212.0 . . . . . . . . . . -0.2357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37575\x3bdist\x3d1920 dist\x3d59244\x3bdist\x3d1920 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 0 0 . . . . . . . . . . . 1.0E-149 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs797044193 4 190943603 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943603 190943603 Chr4(GRCh37):g.190943603C>T *3113 *3113 NM_001286820.1:c.*3113G>A p.? p.? 4 609032 3619 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797044193 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 4 4 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8307 Genomes transition G A G>A 0.000 1.416 149 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 212.0 . . . . . . . . . . -0.2357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37575\x3bdist\x3d1920 dist\x3d59244\x3bdist\x3d1920 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 0 0 . . . . . . . . . . . 1.0E-149 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs797034432 4 190943604 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943604 190943604 Chr4(GRCh37):g.190943604G>A 217 217 XR_171482.2:n.217C>T 1 615581 -1066 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797034432 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 4 0 0 0 0 4 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8236 Genomes transition C T C>T 0.000 0.367 153 PASS . . . . . . . . . . . . . . . . 0.16972478 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 218.0 . . . . . . . . . . -0.2048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37576\x3bdist\x3d1919 dist\x3d59245\x3bdist\x3d1919 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 0 . . . . . . . . . . . 1.0E-153 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,202,255 +rs797034432 4 190943604 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943604 190943604 Chr4(GRCh37):g.190943604G>A *3112 *3112 NM_001286820.1:c.*3112C>T p.? p.? 4 609032 3618 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797034432 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 4 0 0 0 0 4 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8236 Genomes transition C T C>T 0.000 0.367 153 PASS . . . . . . . . . . . . . . . . 0.16972478 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 218.0 . . . . . . . . . . -0.2048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37576\x3bdist\x3d1919 dist\x3d59245\x3bdist\x3d1919 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 0 . . . . . . . . . . . 1.0E-153 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,202,255 +rs797040359 4 190943625 A G - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943625 190943625 Chr4(GRCh37):g.190943625A>G 196 196 XR_171482.2:n.196T>C 1 615581 -1087 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797040359 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 2 0 0 2 0 26 10 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1981 Genomes transition T C T>C 0.087 0.528 176 PASS . . . . . . . . . . . . . . . . 0.103896104 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 231.0 . . . . . . . . . . -0.1955 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37597\x3bdist\x3d1898 dist\x3d59266\x3bdist\x3d1898 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs4863308 rs4863308 . . 1 1538 10 1/0 0,190,255 +rs797040359 4 190943625 A G - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943625 190943625 Chr4(GRCh37):g.190943625A>G *3091 *3091 NM_001286820.1:c.*3091T>C p.? p.? 4 609032 3597 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797040359 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 2 0 0 2 0 26 10 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1981 Genomes transition T C T>C 0.087 0.528 176 PASS . . . . . . . . . . . . . . . . 0.103896104 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 231.0 . . . . . . . . . . -0.1955 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37597\x3bdist\x3d1898 dist\x3d59266\x3bdist\x3d1898 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs4863308 rs4863308 . . 1 1538 10 1/0 0,190,255 +rs201798337 4 190943645 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943645 190943645 Chr4(GRCh37):g.190943645G>A 176 176 XR_171482.2:n.176C>T 1 615581 -1107 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs201798337 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 140 16 2 0 8 0 70 36 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 638 Genomes transition C T C>T 0.031 1.416 160 PASS . . . . . . . . . . . . . . . . 0.12267658 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 269.0 . . . . . . . . . . -0.2132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.3 182 ENSG00000224807 . . . dist\x3d37617\x3bdist\x3d1878 dist\x3d59286\x3bdist\x3d1878 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . rs36127111 rs36127111 rs201798337 rs201798337 1 1538 15 1/0 0,186,255 +rs201798337 4 190943645 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943645 190943645 Chr4(GRCh37):g.190943645G>A *3071 *3071 NM_001286820.1:c.*3071C>T p.? p.? 4 609032 3577 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs201798337 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 140 16 2 0 8 0 70 36 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 638 Genomes transition C T C>T 0.031 1.416 160 PASS . . . . . . . . . . . . . . . . 0.12267658 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 269.0 . . . . . . . . . . -0.2132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.3 182 ENSG00000224807 . . . dist\x3d37617\x3bdist\x3d1878 dist\x3d59286\x3bdist\x3d1878 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . rs36127111 rs36127111 rs201798337 rs201798337 1 1538 15 1/0 0,186,255 +. 4 190943652 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943652 190943652 Chr4(GRCh37):g.190943652C>T 169 169 XR_171482.2:n.169G>A 1 615581 -1114 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 162 12 2 0 10 0 88 40 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 545 Genomes transition G A G>A 0.063 1.416 150 PASS . . . . . . . . . . . . . . . . 0.115523465 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 277.0 . . . . . . . . . . -0.2106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37624\x3bdist\x3d1871 dist\x3d59293\x3bdist\x3d1871 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . rs71225874 . . 1 1538 10 1/0 0,185,255 +. 4 190943652 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943652 190943652 Chr4(GRCh37):g.190943652C>T *3064 *3064 NM_001286820.1:c.*3064G>A p.? p.? 4 609032 3570 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 162 12 2 0 10 0 88 40 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 545 Genomes transition G A G>A 0.063 1.416 150 PASS . . . . . . . . . . . . . . . . 0.115523465 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 277.0 . . . . . . . . . . -0.2106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37624\x3bdist\x3d1871 dist\x3d59293\x3bdist\x3d1871 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . rs71225874 . . 1 1538 10 1/0 0,185,255 +rs200258604 4 190943670 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943670 190943670 Chr4(GRCh37):g.190943670G>A 151 151 XR_171482.2:n.151C>T 1 615581 -1132 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs200258604 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148 6 0 0 14 0 82 40 6 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 651 Genomes transition C T C>T 0.031 -2.054 129 PASS . . . . . . . . . . . . . . . . 0.19172932 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 266.0 . . . . . . . . . . -0.7836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.31 182 ENSG00000224807 . . . dist\x3d37642\x3bdist\x3d1853 dist\x3d59311\x3bdist\x3d1853 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . . . rs200258604 rs200258604 1 1538 15 1/0 0,199,255 +rs200258604 4 190943670 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943670 190943670 Chr4(GRCh37):g.190943670G>A *3046 *3046 NM_001286820.1:c.*3046C>T p.? p.? 4 609032 3552 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs200258604 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148 6 0 0 14 0 82 40 6 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 651 Genomes transition C T C>T 0.031 -2.054 129 PASS . . . . . . . . . . . . . . . . 0.19172932 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 266.0 . . . . . . . . . . -0.7836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.31 182 ENSG00000224807 . . . dist\x3d37642\x3bdist\x3d1853 dist\x3d59311\x3bdist\x3d1853 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . . . rs200258604 rs200258604 1 1538 15 1/0 0,199,255 +rs368412983 4 190943682 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943682 190943682 Chr4(GRCh37):g.190943682C>T 139 139 XR_171482.2:n.139G>A 1 615581 -1144 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs368412983 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 376 48 6 2 18 0 198 88 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 321 Genomes transition G A G>A 0.024 -0.844 123 PASS . . . . . . . . . . . . . . . . 0.1870229 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 262.0 . . . . . . . . . . -0.4624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37654\x3bdist\x3d1841 dist\x3d59323\x3bdist\x3d1841 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-123 . . . . . . . . . . . . . . rs368412983 rs368412983 1 1538 15 1/0 0,200,255 +rs368412983 4 190943682 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943682 190943682 Chr4(GRCh37):g.190943682C>T *3034 *3034 NM_001286820.1:c.*3034G>A p.? p.? 4 609032 3540 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs368412983 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 376 48 6 2 18 0 198 88 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 321 Genomes transition G A G>A 0.024 -0.844 123 PASS . . . . . . . . . . . . . . . . 0.1870229 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 262.0 . . . . . . . . . . -0.4624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37654\x3bdist\x3d1841 dist\x3d59323\x3bdist\x3d1841 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-123 . . . . . . . . . . . . . . rs368412983 rs368412983 1 1538 15 1/0 0,200,255 +. 4 190943683 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943683 190943683 Chr4(GRCh37):g.190943683G>A 138 138 XR_171482.2:n.138C>T 1 615581 -1145 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943674 II.84 0.010341 67.8086 3.75685 0.032362 70.5205 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 426 48 8 4 20 0 216 110 20 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 287 Genomes transition C T C>T 0.016 -1.247 145 PASS . . . . . . . . . . . . . . . . 0.13178295 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 258.0 . . . . . . . . . . -0.5950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37655\x3bdist\x3d1840 dist\x3d59324\x3bdist\x3d1840 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,190,255 +. 4 190943683 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943683 190943683 Chr4(GRCh37):g.190943683G>A *3033 *3033 NM_001286820.1:c.*3033C>T p.? p.? 4 609032 3539 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 Cryptic Acceptor Strongly Activated 190943674 II.84 0.010341 67.8086 3.75685 0.032362 70.5205 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 426 48 8 4 20 0 216 110 20 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 287 Genomes transition C T C>T 0.016 -1.247 145 PASS . . . . . . . . . . . . . . . . 0.13178295 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 258.0 . . . . . . . . . . -0.5950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37655\x3bdist\x3d1840 dist\x3d59324\x3bdist\x3d1840 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,190,255 +rs75709868 4 190943695 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943695 190943695 Chr4(GRCh37):g.190943695C>T 126 126 XR_171482.2:n.126G>A 1 615581 -1157 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs75709868 no no 0 0.000000 0 0.004717 0.000000 0.000000 0.000000 0.000000 0.000000 0.003333 0.013158 0.000000 0.013158 3 0 0 0 0 0 1 2 0 636 106 14 2 30 0 300 152 32 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 228 Genomes transition G A G>A 0.055 -0.117 127 PASS . . . . . . . . . . . . . . . . 0.16450216 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 231.0 . . . . . . . . . . -0.3873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37667\x3bdist\x3d1828 dist\x3d59336\x3bdist\x3d1828 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0047 0 0 0 0.0132 0.0033 0 . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,202,255 +rs75709868 4 190943695 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943695 190943695 Chr4(GRCh37):g.190943695C>T *3021 *3021 NM_001286820.1:c.*3021G>A p.? p.? 4 609032 3527 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs75709868 no no 0 0.000000 0 0.004717 0.000000 0.000000 0.000000 0.000000 0.000000 0.003333 0.013158 0.000000 0.013158 3 0 0 0 0 0 1 2 0 636 106 14 2 30 0 300 152 32 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 228 Genomes transition G A G>A 0.055 -0.117 127 PASS . . . . . . . . . . . . . . . . 0.16450216 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 231.0 . . . . . . . . . . -0.3873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37667\x3bdist\x3d1828 dist\x3d59336\x3bdist\x3d1828 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0047 0 0 0 0.0132 0.0033 0 . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,202,255 +rs201035371 4 190943702 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943702 190943702 Chr4(GRCh37):g.190943702C>T 119 119 XR_171482.2:n.119G>A 1 615581 -1164 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs201035371 no no 0 0.000000 0 0.004124 0.007246 0.000000 0.000000 0.000000 0.000000 0.004149 0.004386 0.000000 0.007246 4 1 0 0 0 0 2 1 0 970 138 14 8 54 0 482 228 46 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 163 Genomes transition G A G>A 0.031 0.205 204 PASS . . . . . . . . . . . . . . . . 0.16877638 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 237.0 . . . . . . . . . . -0.3410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.35 182 ENSG00000224807 . . . dist\x3d37674\x3bdist\x3d1821 dist\x3d59343\x3bdist\x3d1821 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0072 0.0041 0 0 0 0.0044 0.0041 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs201035371 rs201035371 1 1538 10 1/0 0,195,255 +rs201035371 4 190943702 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943702 190943702 Chr4(GRCh37):g.190943702C>T *3014 *3014 NM_001286820.1:c.*3014G>A p.? p.? 4 609032 3520 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs201035371 no no 0 0.000000 0 0.004124 0.007246 0.000000 0.000000 0.000000 0.000000 0.004149 0.004386 0.000000 0.007246 4 1 0 0 0 0 2 1 0 970 138 14 8 54 0 482 228 46 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 163 Genomes transition G A G>A 0.031 0.205 204 PASS . . . . . . . . . . . . . . . . 0.16877638 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 237.0 . . . . . . . . . . -0.3410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.35 182 ENSG00000224807 . . . dist\x3d37674\x3bdist\x3d1821 dist\x3d59343\x3bdist\x3d1821 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0072 0.0041 0 0 0 0.0044 0.0041 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs201035371 rs201035371 1 1538 10 1/0 0,195,255 +rs146023392 4 190943763 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943763 190943763 Chr4(GRCh37):g.190943763G>A 58 58 XR_171482.2:n.58C>T 1 615581 -1225 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs146023392 no no 0 0.000000 0 0.000859 0.004425 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004425 5 5 0 0 0 0 0 0 0 5824 1130 128 38 170 0 2920 1218 220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.000 -0.279 144 PASS . . . . . . . . . . . . . . . . 0.15053764 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . . . . . . . . . -0.4379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.35 182 ENSG00000224807 . . . dist\x3d37735\x3bdist\x3d1760 dist\x3d59404\x3bdist\x3d1760 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0009 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-144 . . . . . . . . . . . . . . rs146023392 rs146023392 1 1538 10 1/0 0,237,255 +rs146023392 4 190943763 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943763 190943763 Chr4(GRCh37):g.190943763G>A *2953 *2953 NM_001286820.1:c.*2953C>T p.? p.? 4 609032 3459 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs146023392 no no 0 0.000000 0 0.000859 0.004425 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004425 5 5 0 0 0 0 0 0 0 5824 1130 128 38 170 0 2920 1218 220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.000 -0.279 144 PASS . . . . . . . . . . . . . . . . 0.15053764 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . . . . . . . . . -0.4379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.35 182 ENSG00000224807 . . . dist\x3d37735\x3bdist\x3d1760 dist\x3d59404\x3bdist\x3d1760 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0009 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-144 . . . . . . . . . . . . . . rs146023392 rs146023392 1 1538 10 1/0 0,237,255 +. 4 190943824 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943824 190943824 Chr4(GRCh37):g.190943824G>A -4 -4 XR_171482.2:n.-4C>T p.? p.? 1 615581 -1286 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10864 2444 282 66 362 0 5468 1862 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transition C T C>T 0.000 0.690 159 PASS . . . . . . . . . . . . . . . . 0.116504855 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 103.0 . . . . . . . . . . -0.1592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37796\x3bdist\x3d1699 dist\x3d59465\x3bdist\x3d1699 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . . . rs71199468 . . 1 1538 10 1/0 0,227,255 +. 4 190943824 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943824 190943824 Chr4(GRCh37):g.190943824G>A *2892 *2892 NM_001286820.1:c.*2892C>T p.? p.? 4 609032 3398 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10864 2444 282 66 362 0 5468 1862 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transition C T C>T 0.000 0.690 159 PASS . . . . . . . . . . . . . . . . 0.116504855 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 103.0 . . . . . . . . . . -0.1592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37796\x3bdist\x3d1699 dist\x3d59465\x3bdist\x3d1699 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . . . rs71199468 . . 1 1538 10 1/0 0,227,255 +rs77206212 4 190943826 T G - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943826 190943826 Chr4(GRCh37):g.190943826T>G -6 -6 XR_171482.2:n.-6A>C p.? p.? 1 615581 -1288 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs77206212 no no 0 0.000000 0 0.006385 0.014825 0.000000 0.000000 0.040541 0.000000 0.002825 0.007527 0.006667 0.040541 29 11 0 0 3 0 7 7 1 4542 742 122 46 74 0 2478 930 150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 11 0 0 3 0 7 7 1 0 0 0 0 0 0 0 0 0 RF 83 Genomes transversion A C A>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.60784316 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . . . . . . . . . -0.3882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.58 0.27 182 ENSG00000224807 . . . dist\x3d37798\x3bdist\x3d1697 dist\x3d59467\x3bdist\x3d1697 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0148 0.0064 0 0 0.0405 0.0075 0.0028 0.0067 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201441363 rs201441363 1 1538 10 1/0 0,255,255 +rs77206212 4 190943826 T G - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943826 190943826 Chr4(GRCh37):g.190943826T>G *2890 *2890 NM_001286820.1:c.*2890A>C p.? p.? 4 609032 3396 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs77206212 no no 0 0.000000 0 0.006385 0.014825 0.000000 0.000000 0.040541 0.000000 0.002825 0.007527 0.006667 0.040541 29 11 0 0 3 0 7 7 1 4542 742 122 46 74 0 2478 930 150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 11 0 0 3 0 7 7 1 0 0 0 0 0 0 0 0 0 RF 83 Genomes transversion A C A>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.60784316 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . . . . . . . . . -0.3882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.58 0.27 182 ENSG00000224807 . . . dist\x3d37798\x3bdist\x3d1697 dist\x3d59467\x3bdist\x3d1697 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0148 0.0064 0 0 0.0405 0.0075 0.0028 0.0067 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201441363 rs201441363 1 1538 10 1/0 0,255,255 +. 4 190943834 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943834 190943834 Chr4(GRCh37):g.190943834G>A -14 -14 XR_171482.2:n.-14C>T p.? p.? 1 615581 -1296 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.001138 0.001011 0.000000 0.000000 0.004065 0.000000 0.001380 0.000624 0.000000 0.004065 10 2 0 0 1 0 6 1 0 8786 1978 232 70 246 0 4348 1602 310 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 2 0 0 1 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.126 0.125 166 PASS . . . . . . . . . . . . . . . . 0.1588785 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . . . . . . . . . -0.3261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37806\x3bdist\x3d1689 dist\x3d59475\x3bdist\x3d1689 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0011 0 0 0.0041 0.0006 0.0014 0 . . . . . . . . . . . 1.0E-166 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +. 4 190943834 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943834 190943834 Chr4(GRCh37):g.190943834G>A *2882 *2882 NM_001286820.1:c.*2882C>T p.? p.? 4 609032 3388 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.001138 0.001011 0.000000 0.000000 0.004065 0.000000 0.001380 0.000624 0.000000 0.004065 10 2 0 0 1 0 6 1 0 8786 1978 232 70 246 0 4348 1602 310 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 2 0 0 1 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.126 0.125 166 PASS . . . . . . . . . . . . . . . . 0.1588785 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . . . . . . . . . -0.3261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37806\x3bdist\x3d1689 dist\x3d59475\x3bdist\x3d1689 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0011 0 0 0.0041 0.0006 0.0014 0 . . . . . . . . . . . 1.0E-166 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +rs797030142 4 190943838 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943838 190943838 Chr4(GRCh37):g.190943838G>A -18 -18 XR_171482.2:n.-18C>T p.? p.? 1 615581 -1300 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797030142 no no 0 0.000000 0 0.000343 0.000545 0.000000 0.000000 0.000000 0.000000 0.000456 0.000000 0.000000 0.000545 3 1 0 0 0 0 2 0 0 8744 1836 242 80 266 0 4390 1632 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.268 1.093 189 PASS . . . . . . . . . . . . . . . . 0.13274336 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.3813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37810\x3bdist\x3d1685 dist\x3d59479\x3bdist\x3d1685 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs797030142 4 190943838 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943838 190943838 Chr4(GRCh37):g.190943838G>A *2878 *2878 NM_001286820.1:c.*2878C>T p.? p.? 4 609032 3384 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797030142 no no 0 0.000000 0 0.000343 0.000545 0.000000 0.000000 0.000000 0.000000 0.000456 0.000000 0.000000 0.000545 3 1 0 0 0 0 2 0 0 8744 1836 242 80 266 0 4390 1632 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.268 1.093 189 PASS . . . . . . . . . . . . . . . . 0.13274336 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.3813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37810\x3bdist\x3d1685 dist\x3d59479\x3bdist\x3d1685 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 4 190943848 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943848 190943848 Chr4(GRCh37):g.190943848G>A -28 -28 XR_171482.2:n.-28C>T p.? p.? 1 615581 -1310 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000452 0.000522 0.000000 0.000000 0.000000 0.000000 0.000441 0.000661 0.000000 0.000661 4 1 0 0 0 0 2 1 0 8848 1916 212 66 284 0 4536 1512 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.063 -0.763 180 PASS . . . . . . . . . . . . . . . . 0.15315315 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 111.0 . . . . . . . . . . -0.5053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.57 0.27 182 ENSG00000224807 . . . dist\x3d37820\x3bdist\x3d1675 dist\x3d59489\x3bdist\x3d1675 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0005 0 0 0 0.0007 0.0004 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75749426 rs75749426 1 1538 10 1/0 0,230,255 +. 4 190943848 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943848 190943848 Chr4(GRCh37):g.190943848G>A *2868 *2868 NM_001286820.1:c.*2868C>T p.? p.? 4 609032 3374 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000452 0.000522 0.000000 0.000000 0.000000 0.000000 0.000441 0.000661 0.000000 0.000661 4 1 0 0 0 0 2 1 0 8848 1916 212 66 284 0 4536 1512 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.063 -0.763 180 PASS . . . . . . . . . . . . . . . . 0.15315315 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 111.0 . . . . . . . . . . -0.5053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.57 0.27 182 ENSG00000224807 . . . dist\x3d37820\x3bdist\x3d1675 dist\x3d59489\x3bdist\x3d1675 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0005 0 0 0 0.0007 0.0004 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75749426 rs75749426 1 1538 10 1/0 0,230,255 +rs797035313 4 190943851 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943851 190943851 Chr4(GRCh37):g.190943851C>T -31 -31 XR_171482.2:n.-31G>A p.? p.? 1 615581 -1313 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797035313 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8876 1760 240 64 252 0 4574 1670 316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Genomes transition G A G>A 0.087 0.286 115 PASS . . . . . . . . . . . . . . . . 0.13392857 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . -0.3355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37823\x3bdist\x3d1672 dist\x3d59492\x3bdist\x3d1672 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs797035313 4 190943851 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943851 190943851 Chr4(GRCh37):g.190943851C>T *2865 *2865 NM_001286820.1:c.*2865G>A p.? p.? 4 609032 3371 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797035313 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8876 1760 240 64 252 0 4574 1670 316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Genomes transition G A G>A 0.087 0.286 115 PASS . . . . . . . . . . . . . . . . 0.13392857 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . -0.3355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37823\x3bdist\x3d1672 dist\x3d59492\x3bdist\x3d1672 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +. 4 190943852 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943852 190943852 Chr4(GRCh37):g.190943852G>A -32 -32 XR_171482.2:n.-32C>T p.? p.? 1 615581 -1314 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000845 0.002049 0.000000 0.000000 0.000000 0.000000 0.000206 0.001765 0.000000 0.002049 8 4 0 0 0 0 1 3 0 9466 1952 254 70 294 0 4852 1700 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition C T C>T 0.094 -0.521 180 PASS . . . . . . . . . . . . . . . . 0.11214953 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . . . . . . . . . -0.5406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37824\x3bdist\x3d1671 dist\x3d59493\x3bdist\x3d1671 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0008 0 0 0 0.0018 0.0002 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 4 190943852 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943852 190943852 Chr4(GRCh37):g.190943852G>A *2864 *2864 NM_001286820.1:c.*2864C>T p.? p.? 4 609032 3370 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000845 0.002049 0.000000 0.000000 0.000000 0.000000 0.000206 0.001765 0.000000 0.002049 8 4 0 0 0 0 1 3 0 9466 1952 254 70 294 0 4852 1700 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition C T C>T 0.094 -0.521 180 PASS . . . . . . . . . . . . . . . . 0.11214953 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . . . . . . . . . -0.5406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37824\x3bdist\x3d1671 dist\x3d59493\x3bdist\x3d1671 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0008 0 0 0 0.0018 0.0002 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +rs79265429 4 190943856 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943856 190943856 Chr4(GRCh37):g.190943856G>A -36 -36 XR_171482.2:n.-36C>T p.? p.? 1 615581 -1318 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs79265429 no no 0 0.000000 0 0.002776 0.007092 0.000000 0.000000 0.000000 0.000000 0.001685 0.004090 0.000000 0.007092 12 4 0 0 0 0 4 4 0 4322 564 128 46 72 0 2374 978 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 4 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 RF 80 Genomes transition C T C>T 0.094 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.7676768 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . . . . . . . . . -0.6275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.59 0.26 182 ENSG00000224807 . . . dist\x3d37828\x3bdist\x3d1667 dist\x3d59497\x3bdist\x3d1667 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0071 0.0028 0 0 0 0.0041 0.0017 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79265429 rs138640182 1 1538 10 1/0 0,255,255 +rs79265429 4 190943856 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943856 190943856 Chr4(GRCh37):g.190943856G>A *2860 *2860 NM_001286820.1:c.*2860C>T p.? p.? 4 609032 3366 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs79265429 no no 0 0.000000 0 0.002776 0.007092 0.000000 0.000000 0.000000 0.000000 0.001685 0.004090 0.000000 0.007092 12 4 0 0 0 0 4 4 0 4322 564 128 46 72 0 2374 978 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 4 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 RF 80 Genomes transition C T C>T 0.094 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.7676768 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . . . . . . . . . -0.6275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.59 0.26 182 ENSG00000224807 . . . dist\x3d37828\x3bdist\x3d1667 dist\x3d59497\x3bdist\x3d1667 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0071 0.0028 0 0 0 0.0041 0.0017 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79265429 rs138640182 1 1538 10 1/0 0,255,255 +rs79507670 4 190943857 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943857 190943857 Chr4(GRCh37):g.190943857C>T -37 -37 XR_171482.2:n.-37G>A p.? p.? 1 615581 -1319 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Donor Strongly Activated 190943856 0.002768 57.0604 I.93 0.181659 66.0212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8500 1686 236 70 248 0 4328 1626 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition G A G>A 0.102 -0.521 216 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . -0.3229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.59 0.31 182 ENSG00000224807 . . . dist\x3d37829\x3bdist\x3d1666 dist\x3d59498\x3bdist\x3d1666 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs79507670 4 190943857 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943857 190943857 Chr4(GRCh37):g.190943857C>T *2859 *2859 NM_001286820.1:c.*2859G>A p.? p.? 4 609032 3365 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 Cryptic Donor Strongly Activated 190943856 0.002768 57.0604 I.93 0.181659 66.0212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8500 1686 236 70 248 0 4328 1626 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition G A G>A 0.102 -0.521 216 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . -0.3229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.59 0.31 182 ENSG00000224807 . . . dist\x3d37829\x3bdist\x3d1666 dist\x3d59498\x3bdist\x3d1666 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +. 4 190943858 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943858 190943858 Chr4(GRCh37):g.190943858G>A -38 -38 XR_171482.2:n.-38C>T p.? p.? 1 615581 -1320 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000243 0.000000 0.000000 0.000243 1 0 0 0 0 0 1 0 0 8062 1554 214 58 250 0 4110 1588 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition C T C>T 0.118 -0.440 104 PASS . . . . . . . . . . . . . . . . 0.11504425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.5363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37830\x3bdist\x3d1665 dist\x3d59499\x3bdist\x3d1665 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-104 . . . . . . . . . . . . . . . . 1 1538 16 1/0 0,229,255 +. 4 190943858 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943858 190943858 Chr4(GRCh37):g.190943858G>A *2858 *2858 NM_001286820.1:c.*2858C>T p.? p.? 4 609032 3364 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000243 0.000000 0.000000 0.000243 1 0 0 0 0 0 1 0 0 8062 1554 214 58 250 0 4110 1588 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition C T C>T 0.118 -0.440 104 PASS . . . . . . . . . . . . . . . . 0.11504425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.5363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37830\x3bdist\x3d1665 dist\x3d59499\x3bdist\x3d1665 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-104 . . . . . . . . . . . . . . . . 1 1538 16 1/0 0,229,255 +rs191466057 4 190943873 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943873 190943873 Chr4(GRCh37):g.190943873G>A -53 -53 XR_171482.2:n.-53C>T p.? p.? 1 615581 -1335 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs191466057 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8768 1794 238 66 290 0 4504 1562 314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 39 Genomes transition C T C>T 0.902 -1.732 201 PASS . . . . . . . . . . . . . . . . 0.16239317 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 117.0 . . . . . . . . . . -0.7010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.58 0.27 182 ENSG00000224807 . . . dist\x3d37845\x3bdist\x3d1650 dist\x3d59514\x3bdist\x3d1650 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs76265179 rs191466057 1 1538 10 1/0 0,225,255 +rs191466057 4 190943873 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943873 190943873 Chr4(GRCh37):g.190943873G>A *2843 *2843 NM_001286820.1:c.*2843C>T p.? p.? 4 609032 3349 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs191466057 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8768 1794 238 66 290 0 4504 1562 314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 39 Genomes transition C T C>T 0.902 -1.732 201 PASS . . . . . . . . . . . . . . . . 0.16239317 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 117.0 . . . . . . . . . . -0.7010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.58 0.27 182 ENSG00000224807 . . . dist\x3d37845\x3bdist\x3d1650 dist\x3d59514\x3bdist\x3d1650 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs76265179 rs191466057 1 1538 10 1/0 0,225,255 +rs797027755 4 190943884 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943884 190943884 Chr4(GRCh37):g.190943884G>A -64 -64 XR_171482.2:n.-64C>T p.? p.? 1 615581 -1346 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Donor Strongly Activated 190943890 2.12739 0.02933 63.8675 2.98609 0.127181 69.6461 rs797027755 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8682 1694 222 68 296 0 4534 1570 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 38 Genomes transition C T C>T 0.965 0.125 184 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 116.0 . . . . . . . . . . -0.3334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37856\x3bdist\x3d1639 dist\x3d59525\x3bdist\x3d1639 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs797027755 4 190943884 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943884 190943884 Chr4(GRCh37):g.190943884G>A *2832 *2832 NM_001286820.1:c.*2832C>T p.? p.? 4 609032 3338 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 Cryptic Donor Strongly Activated 190943890 2.12739 0.02933 63.8675 2.98609 0.127181 69.6461 rs797027755 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8682 1694 222 68 296 0 4534 1570 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 38 Genomes transition C T C>T 0.965 0.125 184 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 116.0 . . . . . . . . . . -0.3334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37856\x3bdist\x3d1639 dist\x3d59525\x3bdist\x3d1639 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs113278294 4 190943910 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943910 190943910 Chr4(GRCh37):g.190943910C>T -90 -90 XR_171482.2:n.-90G>A p.? p.? 1 615581 -1372 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs113278294 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7330 1158 204 64 254 0 3978 1394 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes transition G A G>A 0.937 0.125 184 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . . . . . . . . -0.2945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.57 0.28 182 ENSG00000224807 . . . dist\x3d37882\x3bdist\x3d1613 dist\x3d59551\x3bdist\x3d1613 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.011 . . rs113278294 rs113278294 1 1538 10 1/0 0,250,255 +rs113278294 4 190943910 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943910 190943910 Chr4(GRCh37):g.190943910C>T *2806 *2806 NM_001286820.1:c.*2806G>A p.? p.? 4 609032 3312 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs113278294 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7330 1158 204 64 254 0 3978 1394 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes transition G A G>A 0.937 0.125 184 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . . . . . . . . -0.2945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.57 0.28 182 ENSG00000224807 . . . dist\x3d37882\x3bdist\x3d1613 dist\x3d59551\x3bdist\x3d1613 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.011 . . rs113278294 rs113278294 1 1538 10 1/0 0,250,255 +rs200598338 4 190943911 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943911 190943911 Chr4(GRCh37):g.190943911G>A -91 -91 XR_171482.2:n.-91C>T p.? p.? 1 615581 -1373 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Weakly Activated 190943906 4.00598 0.112939 71.9143 3.65862 0.156038 75.4599 rs200598338 no no 0 0.000000 0 0.000293 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001650 0.000000 0.001650 2 0 0 0 0 0 0 2 0 6828 1164 188 62 256 0 3706 1212 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.953 0.125 205 PASS . . . . . . . . . . . . . . . . 0.17073171 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . . . . . . . . . -0.3550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.62 0.3 182 ENSG00000224807 . . . dist\x3d37883\x3bdist\x3d1612 dist\x3d59552\x3bdist\x3d1612 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0.0017 0 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs200598338 rs200598338 1 1538 10 1/0 0,243,255 +rs200598338 4 190943911 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943911 190943911 Chr4(GRCh37):g.190943911G>A *2805 *2805 NM_001286820.1:c.*2805C>T p.? p.? 4 609032 3311 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 Cryptic Acceptor Weakly Activated 190943906 4.00598 0.112939 71.9143 3.65862 0.156038 75.4599 rs200598338 no no 0 0.000000 0 0.000293 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001650 0.000000 0.001650 2 0 0 0 0 0 0 2 0 6828 1164 188 62 256 0 3706 1212 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.953 0.125 205 PASS . . . . . . . . . . . . . . . . 0.17073171 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . . . . . . . . . -0.3550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.62 0.3 182 ENSG00000224807 . . . dist\x3d37883\x3bdist\x3d1612 dist\x3d59552\x3bdist\x3d1612 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0.0017 0 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs200598338 rs200598338 1 1538 10 1/0 0,243,255 +. 4 190946748 T G - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution missense exon GRCh37 190946748 190946748 Chr4(GRCh37):g.190946748T>G 808 808 NM_001286820.1:c.808A>C p.Thr270Pro p.Thr270Pro 4 609032 474 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 COSM6391115 Thyroid 0.001339 747 transversion A C A>C 0.051 -1.812 T Thr ACT 0.243 P Pro CCT 0.283 270 11 3 Gorilla -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.3 III.35 217 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.005 . . 43.0 . . . . . . . . . . -2.1412 -2.181 -2.141 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . 0.106 @ . . . 0.38 0.34 182 ENSG00000205097 LOC100288255 FRG2 . . . 0.958 0.283 . . . . . . . Uncertain_significance . 0 . 0.008 . . . . T 0.011 0.001 . . 37 . 0.103 . . 0.197 . . . 0.016 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.089 . HET 1 . . . . . . . . . . . . . . . . 0.352 -0.703 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.829 -1.829000 . . 1.000000 . . 1.0E-217 0.000 0.063 . 0.016 0.261 . 0.006 . 0.000 -1.829 -1.470 . . . rs74762197 rs74762197 1 1538 10 1/0 0,255,255 +. 4 190946866 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution synonymous exon GRCh37 190946866 190946866 Chr4(GRCh37):g.190946866G>A 690 690 NM_001286820.1:c.690C>T p.Thr230= p.Thr230Thr 4 609032 356 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 COSM4005737 Urinary tract 0.001488 672 transition C T C>T 0.012 0.367 T Thr ACC 0.361 T Thr ACT 0.243 230 177 PASS . . . . . . . . . . . . . . . . 0.10752688 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . -0.3362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000205097 LOC100288255 FRG2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . ID\x3dCOSM4005737\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +. 4 190947917 G C - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution missense exon GRCh37 190947917 190947917 Chr4(GRCh37):g.190947917G>C 185 185 NM_001286820.1:c.185C>G p.Ser62Trp p.Ser62Trp 2 609032 7 3' 85.7153 8.29438 0.563165 3.55862 85.7153 8.29438 0.707444 3.00191 0.0853977 COSM4592305|COSM4592305|COSM4592305|COSM4592305 Upper aerodigestive tract|Thyroid|Liver|Breast 0.004019|0.001339|0.001687|0.000410 1244|747|2371|2442 transversion C G C>G 0.004 -1.086 S Ser TCG 0.056 W Trp TGG 1.000 62 11 10 Cow -4 -3 -6 I.42 0.13 9.II 5.IV 32 170 177 C15 120.53 81.49 Deleterious 0 II.95 177 PASS . . . . . . . . . . . . . . . . 0.11792453 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.380 . @ . . . . . 1 0.260 . . 424.0 . . . . . . . . . . -0.8611 -1.143 -0.861 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000205097 LOC100288255 FRG2 . . . 0.837 0.248 . . . . . . . Uncertain_significance . 0 . 0.076 . . . . T 0.126 0.005 . . 37 . 0.622 . . 0.508 . . . 0.263 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.793 . . 0 0 0 0 0 0 . 0.764 . . 0.671 . . . . . . 0 0.784 . . . . . . . 0.276 . LowAF 0 . . . . . . . . . . . . . . . . 0.352 -0.703 . 0.000000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.120 -1.120000 . . 0.000000 . . 1.0E-177 0.332 0.254 . 0.062 0.252 . 0.024 . 0.007 -1.120 0.150 . . . . . 1 1538 10 1/0 0,166,255 +. 4 190947989 A T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution intron GRCh37 190947989 190947989 Chr4(GRCh37):g.190947989A>T 179-66 179-66 NM_001286820.1:c.179-66T>A p.? p.? 2 1 609032 -66 3' 85.7153 8.29438 0.563165 3.55862 85.7153 8.29438 0.563165 3.42293 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 2 0 0 0 0 8 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4353 Genomes transversion T A T>A 0.012 -1.247 250 PASS . . . . . . . . . . . . . . . . 0.3037249 . . @ 106 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 349.0 . . . . . . . . . . -0.5773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000205097 LOC100288255 FRG2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,192,255 +. 4 190947990 T C - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution intron GRCh37 190947990 190947990 Chr4(GRCh37):g.190947990T>C 179-67 179-67 NM_001286820.1:c.179-67A>G p.? p.? 2 1 609032 -67 3' 85.7153 8.29438 0.563165 3.55862 85.7153 8.29438 0.563165 3.65945 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 2 0 0 0 0 6 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5214 Genomes transition A G A>G 0.016 0.367 248 PASS . . . . . . . . . . . . . . . . 0.29885057 . . @ 104 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 348.0 . . . . . . . . . . -0.1868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000205097 LOC100288255 FRG2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 0 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,191,255 +. (chr4:190981481 CT/C) 4 190981481 CT C Not on a known gene +. 4 190986568 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986568 190986568 Chr4(GRCh37):g.190986568C>T 912 912 NR_121644.1:n.912C>T 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1182 122 92 8 138 0 372 406 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 141 Genomes transition C T C>T 0.669 1.174 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L304|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.3995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38156\x3bdist\x3d2425 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190986572 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986572 190986572 Chr4(GRCh37):g.190986572G>C 916 916 NR_121644.1:n.916G>C 1 614865 transversion G C G>C 0.677 -0.037 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G306R|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.4628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38160\x3bdist\x3d2421 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190986578 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986578 190986578 Chr4(GRCh37):g.190986578C>T 922 922 NR_121644.1:n.922C>T 1 614865 transition C T C>T 0.583 1.174 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R308C|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.4543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38166\x3bdist\x3d2415 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190986584 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986584 190986584 Chr4(GRCh37):g.190986584C>T 928 928 NR_121644.1:n.928C>T 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 924 106 72 2 134 0 268 312 30 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 191 Genomes transition C T C>T 0.567 0.205 216 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R310W|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.3358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38172\x3bdist\x3d2409 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190986585 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986585 190986585 Chr4(GRCh37):g.190986585G>A 929 929 NR_121644.1:n.929G>A 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1880 304 126 4 220 0 552 614 60 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 98 Genomes transition G A G>A 0.575 1.174 216 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R310Q|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.3683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38173\x3bdist\x3d2408 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs868938241 4 190987150 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190987150 190987150 Chr4(GRCh37):g.190987150C>T 1494 1494 NR_121644.1:n.1494C>T 1 614865 rs868938241 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.969 1.013 255 PASS . . . . . . . . . . . . . . . . 0.93333334 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y498|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.2750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38738\x3bdist\x3d1843 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190987159 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190987159 190987159 Chr4(GRCh37):g.190987159G>A 1503 1503 NR_121644.1:n.1503G>A 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.937 -0.037 247 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A501|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.3791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38747\x3bdist\x3d1834 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190987165 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190987165 190987165 Chr4(GRCh37):g.190987165C>T 1509 1509 NR_121644.1:n.1509C>T 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.921 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.75 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L503|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.7870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38753\x3bdist\x3d1828 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs868995168 4 190987167 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190987167 190987167 Chr4(GRCh37):g.190987167G>C 1511 1511 NR_121644.1:n.1511G>C 1 614865 rs868995168 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.921 -0.279 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 11.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R504P|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.4232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38755\x3bdist\x3d1826 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs368576325 4 190988913 G T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190988913 190988913 Chr4(GRCh37):g.190988913G>T 3257 3257 NR_121644.1:n.3257G>T 1 614865 rs368576325 no no 0 0.000000 0 transversion G T G>T 0.969 1.416 229 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 20.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gTg|G1086V|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . V.82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs368576325 rs368576325 1 1538 10 1/0 0,255,255 +. 4 190988933 T C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190988933 190988933 Chr4(GRCh37):g.190988933T>C 3277 3277 NR_121644.1:n.3277T>C 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1772 276 108 24 28 0 1028 246 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 190 Genomes transition T C T>C 0.772 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 21.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W1093R|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . V.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190988949 CGGCT C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 deletion exon GRCh37 190988967 190988970 Chr4(GRCh37):g.190988967_190988970del 3311 3314 NR_121644.1:n.3311_3314del 1 614865 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000400 0.000000 0.000400 2 0 0 0 0 0 1 1 0 53042 1298 13168 4330 2418 9864 17742 2498 1724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 43 Exomes GCTG 255 Pass . . . . . . . . . . . . . . . . 0.5 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 22 . . FRAME_SHIFT(HIGH||||DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . . . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.771e-05 0 0 0 0.0004 5.636e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,30 +. 4 190988958 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190988958 190988958 Chr4(GRCh37):g.190988958G>C 3302 3302 NR_121644.1:n.3302G>C 1 614865 transversion G C G>C 0.961 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 22.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tCg|W1101S|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . IV.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190989000 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190989000 190989000 Chr4(GRCh37):g.190989000G>A 3344 3344 NR_121644.1:n.3344G>A 1 614865 0.004345 0.006024 0.015873 0.000000 0.000000 0.000000 0.001153 0.017241 0.000000 0.017241 13 3 2 0 0 0 2 6 0 2992 498 126 54 116 0 1734 348 116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 3 2 0 0 0 2 6 0 0 0 0 0 0 0 0 0 0 RF 226 Genomes transition G A G>A 1.000 1.739 183 PASS . . . . . . . . . . . . . . . . 0.2195122 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1115H|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.1587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . 0.59 0.29 182 ENSG00000250537 DUX2 DBET . uc031sid.1:c.-90G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0043 0.0159 0 0 0.0172 0.0012 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs36182626 rs36182626 1 1538 10 1/0 0,255,255 +. 4 190989037 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989037 190989037 Chr4(GRCh37):g.190989037C>T *18 *18 NR_121644.1:n.*18C>T p.? p.? 1 614865 0.008254 0.008886 0.016949 0.000000 0.047619 0.000000 0.002304 0.017562 0.012500 0.047619 57 15 4 0 10 0 8 17 3 6906 1688 236 92 210 0 3472 968 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 15 4 0 10 0 8 17 3 0 0 0 0 0 0 0 0 0 RF 111 Genomes transition C T C>T 0.913 -0.521 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 49.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 downstream . . . @ . . . 0.6 0.32 182 ENSG00000250537 DUX2 DBET . uc031sid.1:c.-53C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0089 0.0083 0.0169 0 0.0476 0.0176 0.0023 0.0125 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . rs74188811 rs74188811 1 1538 10 1/0 0,255,255 +. 4 190989227 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989227 190989227 Chr4(GRCh37):g.190989227C>T *208 *208 NR_121644.1:n.*208C>T p.? p.? 1 614865 0.000106 0.000126 0.000000 0.000838 0.000000 0.000000 0.000144 0.000000 0.000573 0.000838 6 1 0 1 0 0 3 0 1 56578 7938 10258 1194 7210 5308 20786 2140 1744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 1 0 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 1.577 180 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C138T:p.I46I . . . 0.14478114 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 297.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.5028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.6e-05 0 0 0 0 0.0001 0.0007 0 0.0003 0.0003 0 0.0417 0 0 0.0002 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs377342046 4 190989265 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989265 190989265 Chr4(GRCh37):g.190989265C>T *246 *246 NR_121644.1:n.*246C>T p.? p.? 1 614865 rs377342046 no no 0 0.000000 0 0.000548 0.002891 0.000000 0.000000 0.000000 0.000208 0.000419 0.001362 0.000000 0.002891 25 15 0 0 0 1 7 2 0 45634 5188 9002 888 6150 4802 16710 1468 1426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 15 0 0 0 1 7 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 1.577 187 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C176T:p.P59L . . . 0.12666667 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 300.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.318e-05 0 0 0 0.0016 6.719e-05 0 0.0002 0.0120 0.0047 0 0 0 0.0012 0.0033 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs377342046 rs377342046 1 1538 10 1/0 0,181,255 +. 4 190989285 T C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989285 190989285 Chr4(GRCh37):g.190989285T>C *266 *266 NR_121644.1:n.*266T>C p.? p.? 1 614865 0.001039 0.001562 0.000000 0.000000 0.000000 0.000000 0.000296 0.003086 0.000000 0.003086 9 5 0 0 0 0 1 3 0 8662 3202 178 12 638 0 3376 972 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 5 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 67 Genomes transition T C T>C 0.850 0.851 180 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.T196C:p.W66R . . . 0.1124031 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 258.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0010 0 0 0 0.0031 0.0003 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +rs782352989 4 190989611 T A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989611 190989611 Chr4(GRCh37):g.190989611T>A *592 *592 NR_121644.1:n.*592T>A p.? p.? 1 614865 rs782352989 yes no Frequency 1 0.000000 0 0.000938 0.000463 0.000294 0.016129 0.000000 0.000000 0.001074 0.001860 0.000000 0.016129 35 2 2 8 0 0 17 6 0 37318 4316 6792 496 3110 2302 15826 3226 1250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 2 2 8 0 0 17 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.685 1.093 183 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.T522A:p.A174A . . . 0.11940298 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 67.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4229 . . . . . . . . 1.329e-03 . . . . 0 . . . 0 . 0 . 0 . . 0 0 . 0 . synonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0066 0.0017 0.0003 0.0226 0 0.0041 0.0028 0 0 0 0.0002 0 0 0 0.0015 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs782083283 4 190989871 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989871 190989871 Chr4(GRCh37):g.190989871C>T *852 *852 NR_121644.1:n.*852C>T p.? p.? 1 614865 rs782083283 yes no Frequency 1 0.000000 0 0.000135 0.000765 0.000000 0.000000 0.000000 0.000000 0.000000 0.001099 0.000000 0.001099 2 1 0 0 0 0 0 1 0 14824 1308 2414 184 942 576 8004 910 486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.213 -0.763 147 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C782T:p.P261L . . . 0.19512194 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.6944 . . . . . . . . 5.629e-04 . . . 0 0 . . . 0 . 0 0 0 . . . 0 . 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0048 0 0 0 0.0008 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-147 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990198 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990198 190990198 Chr4(GRCh37):g.190990198G>C *1179 *1179 NR_121644.1:n.*1179G>C p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 4 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.016 -1.247 255 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.G1109C:p.C370S . . . 0.64285713 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.6933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1179\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990250 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990250 190990250 Chr4(GRCh37):g.190990250G>A *1231 *1231 NR_121644.1:n.*1231G>A p.? p.? 1 614865 transition G A G>A 0.000 -1.086 240 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.G1161A:p.A387A . . . 0.28125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.6658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1231\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . rs3885277 rs3885277 . . 1 1538 10 1/0 0,255,255 +. 4 190990255 C A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990255 190990255 Chr4(GRCh37):g.190990255C>A *1236 *1236 NR_121644.1:n.*1236C>A p.? p.? 1 614865 transversion C A C>A 0.000 1.013 148 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1166A:p.P389H . . . 0.16129032 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1236\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990257 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990257 190990257 Chr4(GRCh37):g.190990257C>T *1238 *1238 NR_121644.1:n.*1238C>T p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -1.328 255 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1168T:p.L390F . . . 0.7096774 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.7740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1238\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990277 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990277 190990277 Chr4(GRCh37):g.190990277G>A *1258 *1258 NR_121644.1:n.*1258G>A p.? p.? 1 614865 transition G A G>A 0.008 1.013 214 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.G1188A:p.P396P . . . 0.19444445 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1258\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs797024418 4 190990294 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990294 190990294 Chr4(GRCh37):g.190990294C>T *1275 *1275 NR_121644.1:n.*1275C>T p.? p.? 1 614865 rs797024418 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -2.619 255 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1205T:p.S402L . . . 0.775 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -1.0180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1275\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201393880 4 190990304 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990304 190990304 Chr4(GRCh37):g.190990304C>T *1285 *1285 NR_121644.1:n.*1285C>T p.? p.? 1 614865 rs201393880 no no 0 0.000000 0 transition C T C>T 0.008 -1.328 197 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1215T:p.A405A . . . 0.15384616 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.6764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.59 0.36 182 ENSG00000250537 DUX2 . . . dist\x3d1285\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs201393880 rs201393880 1 1538 10 1/0 0,255,255 +. 4 190990309 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990309 190990309 Chr4(GRCh37):g.190990309C>T *1290 *1290 NR_121644.1:n.*1290C>T p.? p.? 1 614865 transition C T C>T 0.071 0.205 118 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1220T:p.S407L . . . 0.11764706 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 51.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1290\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-118 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990310 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990310 190990310 Chr4(GRCh37):g.190990310G>A *1291 *1291 NR_121644.1:n.*1291G>A p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.102 0.125 238 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.G1221A:p.S407S . . . 0.36734694 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 49.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1291\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990443 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990443 190990443 Chr4(GRCh37):g.190990443C>T *1424 *1424 NR_121644.1:n.*1424C>T p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.063 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.5822785 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.9477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1424\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990451 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990451 190990451 Chr4(GRCh37):g.190990451C>T *1432 *1432 NR_121644.1:n.*1432C>T p.? p.? 1 614865 transition C T C>T 0.079 1.416 187 PASS . . . . . . . . . . . . . . . . 0.12857144 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1432\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs36181331 rs36181331 . . 1 1538 10 1/0 0,244,255 +. 4 190990452 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990452 190990452 Chr4(GRCh37):g.190990452G>A *1433 *1433 NR_121644.1:n.*1433G>A p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 2 0 0 0 0 0 16 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 2047 Genomes transition G A G>A 0.063 -0.440 148 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1433\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . 0 . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 4 190990458 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990458 190990458 Chr4(GRCh37):g.190990458C>T *1439 *1439 NR_121644.1:n.*1439C>T p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.118 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.5675676 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.7926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1439\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs374845197 4 190990460 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990460 190990460 Chr4(GRCh37):g.190990460G>C *1441 *1441 NR_121644.1:n.*1441G>C p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.024 -2.458 255 PASS . . . . . . . . . . . . . . . . 0.5135135 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.8818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1441\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990463 C A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990463 190990463 Chr4(GRCh37):g.190990463C>A *1444 *1444 NR_121644.1:n.*1444C>A p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 4 0 0 0 0 0 12 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 2146 Genomes transversion C A C>A 0.024 -2.539 191 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.9001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1444\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs36168737 rs36168737 . . 1 1538 10 1/0 0,244,255 +rs113562226 4 190990506 T C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990506 190990506 Chr4(GRCh37):g.190990506T>C *1487 *1487 NR_121644.1:n.*1487T>C p.? p.? 1 614865 rs113562226 no no 0 0.000000 0 transition T C T>C 0.811 0.770 126 PASS . . . . . . . . . . . . . . . . 0.13513513 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1487\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-126 . . . . . . . . . . . . rs36189595 rs36189595 . . 1 1538 10 1/0 0,246,255 +. 4 190990527 A G - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990527 190990527 Chr4(GRCh37):g.190990527A>G *1508 *1508 NR_121644.1:n.*1508A>G p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.961 1.174 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 66.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . 0.57 0.4 182 ENSG00000250537 DUX2 . . . dist\x3d1508\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs375138177 4 190990536 C A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990536 190990536 Chr4(GRCh37):g.190990536C>A *1517 *1517 NR_121644.1:n.*1517C>A p.? p.? 1 614865 rs375138177 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.976 -2.216 250 PASS . . . . . . . . . . . . . . . . 0.3090909 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.9737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1517\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . rs3927383 rs3927383 rs375138177 rs375138177 1 1538 10 1/0 0,255,255 +. 4 190990608 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990608 190990608 Chr4(GRCh37):g.190990608G>A *1589 *1589 NR_121644.1:n.*1589G>A p.? p.? 1 614865 transition G A G>A 0.728 1.013 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1589\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs36145665 rs36145665 . . 1 1538 10 1/0 0,255,255 +. (chr4:190992196 C/T) 4 190992196 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992209 G/A) 4 190992209 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992210 G/T) 4 190992210 G T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992230 T/C) 4 190992230 T C No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992234 C/G) 4 190992234 C G No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992240 C/T) 4 190992240 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992242 A/G) 4 190992242 A G No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992244 G/A) 4 190992244 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992246 CGGCTGGCT/C) 4 190992246 CGGCTGGCT C No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992255 G/C) 4 190992255 G C No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992271 G/A) 4 190992271 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992296 C/T) 4 190992296 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992297 G/A) 4 190992297 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992308 T/G) 4 190992308 T G No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992311 G/A) 4 190992311 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992323 C/T) 4 190992323 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992334 C/T) 4 190992334 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992349 C/T) 4 190992349 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992350 G/A) 4 190992350 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992351 C/T) 4 190992351 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992359 C/T) 4 190992359 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992369 C/T) 4 190992369 C T Not on a known gene +. (chr4:190992370 G/A) 4 190992370 G A Not on a known gene +. (chr4:190992373 C/T) 4 190992373 C T Not on a known gene +. (chr4:190992374 G/A) 4 190992374 G A Not on a known gene +rs371361094 (chr4:190992381 A/C) 4 190992381 A C Not on a known gene +. (chr4:190992383 C/T) 4 190992383 C T Not on a known gene +. (chr4:190992397 C/T) 4 190992397 C T Not on a known gene +. (chr4:190992411 A/G) 4 190992411 A G Not on a known gene +. (chr4:190992422 C/T) 4 190992422 C T Not on a known gene +. (chr4:190992424 C/T) 4 190992424 C T Not on a known gene +. (chr4:190992425 G/A) 4 190992425 G A Not on a known gene +rs879980865 (chr4:190992433 G/A) 4 190992433 G A Not on a known gene +. (chr4:190992440 A/G) 4 190992440 A G Not on a known gene +. (chr4:190992444 C/T) 4 190992444 C T Not on a known gene +. (chr4:190992447 C/T) 4 190992447 C T Not on a known gene +. (chr4:190992450 C/A) 4 190992450 C A Not on a known gene +. (chr4:190992469 C/T) 4 190992469 C T Not on a known gene +. (chr4:190992479 C/T) 4 190992479 C T Not on a known gene +. (chr4:190992489 C/T) 4 190992489 C T Not on a known gene +. (chr4:190992504 C/T) 4 190992504 C T Not on a known gene +. (chr4:190992505 G/A) 4 190992505 G A Not on a known gene +. (chr4:190992510 C/A) 4 190992510 C A Not on a known gene +. (chr4:190992512 G/A) 4 190992512 G A Not on a known gene +. (chr4:190992524 C/T) 4 190992524 C T Not on a known gene +. (chr4:190992525 G/A) 4 190992525 G A Not on a known gene +. (chr4:190992537 C/T) 4 190992537 C T Not on a known gene +. (chr4:190992562 C/T) 4 190992562 C T Not on a known gene +. (chr4:190992563 G/A) 4 190992563 G A Not on a known gene +. (chr4:190992582 T/C) 4 190992582 T C Not on a known gene +. (chr4:190992603 C/T) 4 190992603 C T Not on a known gene +. (chr4:190992604 G/A) 4 190992604 G A Not on a known gene +. (chr4:190992622 G/A) 4 190992622 G A Not on a known gene +. (chr4:190992659 G/A) 4 190992659 G A Not on a known gene +. (chr4:190992661 C/A) 4 190992661 C A Not on a known gene +. (chr4:190992669 C/A) 4 190992669 C A Not on a known gene +. (chr4:190992844 G/C) 4 190992844 G C Not on a known gene +. (chr4:190992869 C/T) 4 190992869 C T Not on a known gene +. (chr4:190992897 G/T) 4 190992897 G T Not on a known gene +. (chr4:190992927 G/A) 4 190992927 G A Not on a known gene +. (chr4:190992940 C/T) 4 190992940 C T Not on a known gene +. (chr4:190992979 C/T) 4 190992979 C T Not on a known gene +. (chr4:190993018 C/G) 4 190993018 C G Not on a known gene +. (chr4:190993130 C/A) 4 190993130 C A Not on a known gene +. (chr4:190993174 C/T) 4 190993174 C T Not on a known gene +. (chr4:190993175 G/A) 4 190993175 G A Not on a known gene +. (chr4:190993477 C/G) 4 190993477 C G Not on a known gene +. (chr4:190993480 G/C) 4 190993480 G C Not on a known gene +. (chr4:190993495 G/C) 4 190993495 G C Not on a known gene +. (chr4:190993529 G/A) 4 190993529 G A Not on a known gene +. (chr4:190993546 C/T) 4 190993546 C T Not on a known gene +. (chr4:190993547 G/A) 4 190993547 G A Not on a known gene +. (chr4:190993554 C/T) 4 190993554 C T Not on a known gene +. (chr4:190993573 C/T) 4 190993573 C T Not on a known gene +. (chr4:190993574 G/A) 4 190993574 G A Not on a known gene +. (chr4:190993591 C/T) 4 190993591 C T Not on a known gene +. (chr4:190993601 C/T) 4 190993601 C T Not on a known gene +. (chr4:190993602 G/A) 4 190993602 G A Not on a known gene +. (chr4:190993638 C/T) 4 190993638 C T Not on a known gene +. (chr4:190993740 C/T) 4 190993740 C T Not on a known gene +. (chr4:190993755 C/T) 4 190993755 C T Not on a known gene +. (chr4:190993757 G/C) 4 190993757 G C Not on a known gene +. (chr4:190993905 G/A) 4 190993905 G A Not on a known gene +. (chr4:190995483 G/T) 4 190995483 G T Not on a known gene +. (chr4:190995490 G/A) 4 190995490 G A Not on a known gene +. (chr4:190995523 T/C) 4 190995523 T C Not on a known gene +. (chr4:190995533 C/T) 4 190995533 C T Not on a known gene +. (chr4:190995537 G/A) 4 190995537 G A Not on a known gene +. (chr4:190995539 CGGCTGGCT/C) 4 190995539 CGGCTGGCT C Not on a known gene +. (chr4:190995548 G/C) 4 190995548 G C Not on a known gene +rs62347468 (chr4:190995573 T/C) 4 190995573 T C Not on a known gene +. (chr4:190995590 G/A) 4 190995590 G A Not on a known gene +. (chr4:190995601 T/G) 4 190995601 T G Not on a known gene +. (chr4:190995625 G/A) 4 190995625 G A Not on a known gene +. (chr4:190995643 G/A) 4 190995643 G A Not on a known gene +. (chr4:190995644 C/T) 4 190995644 C T Not on a known gene +. (chr4:190995662 C/T) 4 190995662 C T Not on a known gene +. (chr4:190995667 G/A) 4 190995667 G A Not on a known gene +. (chr4:190995710 C/T) 4 190995710 C T Not on a known gene +. (chr4:190995733 A/G) 4 190995733 A G Not on a known gene +. (chr4:190995737 C/T) 4 190995737 C T Not on a known gene +. (chr4:190995740 C/T) 4 190995740 C T Not on a known gene +. (chr4:190995743 C/A) 4 190995743 C A Not on a known gene +. (chr4:190995762 C/T) 4 190995762 C T Not on a known gene +. (chr4:190995772 C/T) 4 190995772 C T Not on a known gene +. (chr4:190995797 C/T) 4 190995797 C T Not on a known gene +. (chr4:190995798 G/A) 4 190995798 G A Not on a known gene +. (chr4:190995805 G/A) 4 190995805 G A Not on a known gene +. (chr4:190995817 C/T) 4 190995817 C T Not on a known gene +. (chr4:190995818 G/A) 4 190995818 G A Not on a known gene +. (chr4:190995830 C/T) 4 190995830 C T Not on a known gene +. (chr4:190995848 G/A) 4 190995848 G A Not on a known gene +. (chr4:190995855 C/T) 4 190995855 C T Not on a known gene +. (chr4:190995856 G/A) 4 190995856 G A Not on a known gene +. (chr4:190995875 T/C) 4 190995875 T C Not on a known gene +. (chr4:190995896 C/T) 4 190995896 C T Not on a known gene +. (chr4:190995915 G/A) 4 190995915 G A Not on a known gene +. (chr4:190995945 G/A) 4 190995945 G A Not on a known gene +. (chr4:190995954 C/A) 4 190995954 C A Not on a known gene +. (chr4:190995962 C/A) 4 190995962 C A Not on a known gene +. (chr4:190995966 G/A) 4 190995966 G A Not on a known gene +. (chr4:190995972 G/A) 4 190995972 G A Not on a known gene +. (chr4:190996137 G/C) 4 190996137 G C Not on a known gene +. (chr4:190996141 C/A) 4 190996141 C A Not on a known gene +. (chr4:190996162 C/T) 4 190996162 C T Not on a known gene +. (chr4:190996167 T/C) 4 190996167 T C Not on a known gene +. (chr4:190996168 G/A) 4 190996168 G A Not on a known gene +. (chr4:190996190 G/T) 4 190996190 G T Not on a known gene +. (chr4:190996244 G/T) 4 190996244 G T Not on a known gene +. (chr4:190996246 G/T) 4 190996246 G T Not on a known gene +. (chr4:190996253 G/A) 4 190996253 G A Not on a known gene +. (chr4:190996269 G/A) 4 190996269 G A Not on a known gene +. (chr4:190996272 C/T) 4 190996272 C T Not on a known gene +. (chr4:190996423 C/A) 4 190996423 C A Not on a known gene +. (chr4:190996839 C/T) 4 190996839 C T Not on a known gene +. (chr4:190996840 G/A) 4 190996840 G A Not on a known gene +. (chr4:190996847 C/T) 4 190996847 C T Not on a known gene +. (chr4:190996867 G/A) 4 190996867 G A Not on a known gene +. (chr4:190996884 C/T) 4 190996884 C T Not on a known gene +. (chr4:190996900 G/A) 4 190996900 G A Not on a known gene +. (chr4:190996940 C/A) 4 190996940 C A Not on a known gene +. (chr4:190997033 C/T) 4 190997033 C T Not on a known gene +. (chr4:190997048 C/T) 4 190997048 C T Not on a known gene +. (chr4:190997050 G/C) 4 190997050 G C Not on a known gene +. (chr4:190998816 T/C) 4 190998816 T C Not on a known gene +. (chr4:190998820 C/G) 4 190998820 C G Not on a known gene +. (chr4:190998826 C/T) 4 190998826 C T Not on a known gene +. (chr4:190998830 G/A) 4 190998830 G A Not on a known gene +. (chr4:190998832 CGGCTGGCT/C) 4 190998832 CGGCTGGCT C Not on a known gene +. (chr4:190998841 G/C) 4 190998841 G C Not on a known gene +. (chr4:190998853 G/T) 4 190998853 G T Not on a known gene +. (chr4:190998857 G/A) 4 190998857 G A Not on a known gene +. (chr4:190998873 T/A) 4 190998873 T A Not on a known gene +. (chr4:190998894 T/G) 4 190998894 T G Not on a known gene +. (chr4:190998937 C/T) 4 190998937 C T Not on a known gene +. (chr4:190998967 A/C) 4 190998967 A C Not on a known gene +. (chr4:190999003 C/T) 4 190999003 C T Not on a known gene +. (chr4:190999019 G/A) 4 190999019 G A Not on a known gene +. (chr4:190999026 A/G) 4 190999026 A G Not on a known gene +. (chr4:190999031 G/A) 4 190999031 G A Not on a known gene +. (chr4:190999036 C/A) 4 190999036 C A Not on a known gene +. (chr4:190999055 C/T) 4 190999055 C T Not on a known gene +. (chr4:190999075 C/T) 4 190999075 C T Not on a known gene +. (chr4:190999091 G/A) 4 190999091 G A Not on a known gene +. (chr4:190999098 G/A) 4 190999098 G A Not on a known gene +. (chr4:190999103 C/T) 4 190999103 C T Not on a known gene +. (chr4:190999110 C/T) 4 190999110 C T Not on a known gene +. (chr4:190999111 G/A) 4 190999111 G A Not on a known gene +. (chr4:190999123 C/T) 4 190999123 C T Not on a known gene +. (chr4:190999140 C/T) 4 190999140 C T Not on a known gene +. (chr4:190999149 G/A) 4 190999149 G A Not on a known gene +. (chr4:190999189 C/T) 4 190999189 C T Not on a known gene +. (chr4:190999190 G/A) 4 190999190 G A Not on a known gene +. (chr4:190999208 G/A) 4 190999208 G A Not on a known gene +. (chr4:190999211 G/A) 4 190999211 G A Not on a known gene +. (chr4:190999238 G/A) 4 190999238 G A Not on a known gene +. (chr4:190999247 C/A) 4 190999247 C A Not on a known gene +. (chr4:190999255 C/A) 4 190999255 C A Not on a known gene +. (chr4:190999430 G/C) 4 190999430 G C Not on a known gene +. (chr4:190999443 C/T) 4 190999443 C T Not on a known gene +. (chr4:190999446 G/A) 4 190999446 G A Not on a known gene +. (chr4:190999455 C/T) 4 190999455 C T Not on a known gene +. (chr4:190999460 T/C) 4 190999460 T C Not on a known gene +. (chr4:190999461 G/A) 4 190999461 G A Not on a known gene +. (chr4:190999469 C/T) 4 190999469 C T Not on a known gene +. (chr4:190999483 G/T) 4 190999483 G T Not on a known gene +. (chr4:190999546 G/A) 4 190999546 G A Not on a known gene +. (chr4:190999566 G/A) 4 190999566 G A Not on a known gene +. (chr4:190999604 C/G) 4 190999604 C G Not on a known gene +. (chr4:190999716 C/A) 4 190999716 C A Not on a known gene +. (chr4:190999761 G/A) 4 190999761 G A Not on a known gene +. (chr4:191000081 G/C) 4 191000081 G C Not on a known gene +. (chr4:191000115 G/A) 4 191000115 G A Not on a known gene +. (chr4:191000132 C/T) 4 191000132 C T Not on a known gene +. (chr4:191000140 C/T) 4 191000140 C T Not on a known gene +. (chr4:191000177 C/T) 4 191000177 C T Not on a known gene +. (chr4:191000188 G/A) 4 191000188 G A Not on a known gene +. (chr4:191000193 G/A) 4 191000193 G A Not on a known gene +. (chr4:191000206 C/A) 4 191000206 C A Not on a known gene +. (chr4:191000212 G/T) 4 191000212 G T Not on a known gene +. (chr4:191000224 C/T) 4 191000224 C T Not on a known gene +. (chr4:191000326 C/T) 4 191000326 C T Not on a known gene +. (chr4:191000335 G/A) 4 191000335 G A Not on a known gene +. (chr4:191000341 C/T) 4 191000341 C T Not on a known gene +. (chr4:191000343 G/C) 4 191000343 G C Not on a known gene +. (chr4:191000345 C/A) 4 191000345 C A Not on a known gene +. (chr4:191002096 G/T) 4 191002096 G T Not on a known gene +. (chr4:191002116 T/C) 4 191002116 T C Not on a known gene +. (chr4:191002126 C/T) 4 191002126 C T Not on a known gene +. (chr4:191002130 G/A) 4 191002130 G A Not on a known gene +. (chr4:191002132 CGGCTGGCT/C) 4 191002132 CGGCTGGCT C Not on a known gene +. (chr4:191002141 G/C) 4 191002141 G C Not on a known gene +. (chr4:191002157 G/A) 4 191002157 G A Not on a known gene +. (chr4:191002182 C/T) 4 191002182 C T Not on a known gene +. (chr4:191002183 G/A) 4 191002183 G A Not on a known gene +. (chr4:191002209 C/T) 4 191002209 C T Not on a known gene +. (chr4:191002218 G/A) 4 191002218 G A Not on a known gene +rs797024396 (chr4:191002235 C/T) 4 191002235 C T Not on a known gene +. (chr4:191002236 G/A) 4 191002236 G A Not on a known gene +. (chr4:191002241 C/T) 4 191002241 C T Not on a known gene +. (chr4:191002245 C/T) 4 191002245 C T Not on a known gene +. (chr4:191002246 G/A) 4 191002246 G A Not on a known gene +rs797043651 (chr4:191002255 C/T) 4 191002255 C T Not on a known gene +. (chr4:191002256 G/A) 4 191002256 G A Not on a known gene +. (chr4:191002259 C/T) 4 191002259 C T Not on a known gene +. (chr4:191002286 C/A) 4 191002286 C A Not on a known gene +. (chr4:191002293 G/A) 4 191002293 G A Not on a known gene +. (chr4:191002310 C/T) 4 191002310 C T Not on a known gene +. (chr4:191002331 G/A) 4 191002331 G A Not on a known gene +rs74220307 (chr4:191002365 C/T) 4 191002365 C T Not on a known gene +. (chr4:191002390 C/T) 4 191002390 C T Not on a known gene +. (chr4:191002391 G/A) 4 191002391 G A Not on a known gene +. (chr4:191002404 G/A) 4 191002404 G A Not on a known gene +. (chr4:191002410 C/T) 4 191002410 C T Not on a known gene +. (chr4:191002411 G/A) 4 191002411 G A Not on a known gene +. (chr4:191002423 C/T) 4 191002423 C T Not on a known gene +. (chr4:191002441 G/A) 4 191002441 G A Not on a known gene +rs199875395 (chr4:191002448 C/T) 4 191002448 C T Not on a known gene +. (chr4:191002449 G/A) 4 191002449 G A Not on a known gene +. (chr4:191002468 T/C) 4 191002468 T C Not on a known gene +rs201176248 (chr4:191002489 C/T) 4 191002489 C T Not on a known gene +. (chr4:191002490 G/A) 4 191002490 G A Not on a known gene +. (chr4:191002508 G/A) 4 191002508 G A Not on a known gene +. (chr4:191002511 G/A) 4 191002511 G A Not on a known gene +. (chr4:191002538 G/A) 4 191002538 G A Not on a known gene +rs782579926 (chr4:191002547 C/A) 4 191002547 C A Not on a known gene +rs79630813 (chr4:191002555 C/A) 4 191002555 C A Not on a known gene +. (chr4:191002730 G/C) 4 191002730 G C Not on a known gene +. (chr4:191002783 G/T) 4 191002783 G T Not on a known gene +. (chr4:191002813 G/A) 4 191002813 G A Not on a known gene +. (chr4:191002837 G/T) 4 191002837 G T Not on a known gene +. (chr4:191002839 G/T) 4 191002839 G T Not on a known gene +. (chr4:191002845 C/T) 4 191002845 C T Not on a known gene +rs797033590 (chr4:191002846 G/A) 4 191002846 G A Not on a known gene +. (chr4:191002862 G/A) 4 191002862 G A Not on a known gene +. (chr4:191003019 G/A) 4 191003019 G A Not on a known gene +. (chr4:191003026 T/C) 4 191003026 T C Not on a known gene +. (chr4:191003028 C/T) 4 191003028 C T Not on a known gene +. (chr4:191003038 G/C) 4 191003038 G C Not on a known gene +rs782536991 (chr4:191003054 C/T) 4 191003054 C T Not on a known gene +rs781796365 4 191003408 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003408 191003408 Chr4(GRCh37):g.191003408C>T -1976 -1976 NM_033178.2:c.-1976C>T p.? p.? 1 606009 rs781796365 yes no Frequency 1 0.000000 0 0.000450 0.002503 0.000391 0.000000 0.000000 0.000707 0.000237 0.001383 0.000000 0.002503 20 5 3 0 0 4 4 4 0 44412 1998 7680 1598 6388 5656 16890 2892 1310 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 5 3 0 0 4 4 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.700 135 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.C1319T:p.P440L . . . 0.16666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.7334 . . . . . . . . 1.619e-04 . . . 0 0.0021 0 0 . 0 0 0.0028 0 0.0021 0 0 . 0 0 0.0028 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14389\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.09 . . . . . . . . . . . . . II.61 . . . . . 0.070000 . . . . . . . . . . 0 0.0002 0.0003 0 0 0.0009 8.249e-05 0 0.0007 0.0030 0.0012 0.0026 0 0 0.0017 0.0006 0 . . . . -2.833 -2.833000 . . 0.070000 . . 1.0E-135 . . . . . . . . . -2.833 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191003449 G T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003449 191003449 Chr4(GRCh37):g.191003449G>T -1935 -1935 NM_033178.2:c.-1935G>T p.? p.? 1 606009 transversion G T G>T 0.000 -0.924 140 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1360T:p.A454S . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14430\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.35 . . . . . . . . . . . . . 2.1625 . . . . . 0.180000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.951 -0.951000 . . 0.180000 . . 1.0E-140 . . . . . . . . . -0.951 . . . . . . 1 1538 10 1/0 0,255,255 +rs797029070 4 191003454 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003454 191003454 Chr4(GRCh37):g.191003454G>C -1930 -1930 NM_033178.2:c.-1930G>C p.? p.? 1 606009 transversion G C G>C 0.000 -1.893 128 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1365C:p.P455P . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14435\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-128 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs797042810 4 191003481 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003481 191003481 Chr4(GRCh37):g.191003481C>T -1903 -1903 NM_033178.2:c.-1903C>T p.? p.? 1 606009 0.000773 0.009834 0.000324 0.000000 0.000000 0.000281 0.000174 0.003411 0.001094 0.009834 24 13 2 0 0 1 2 5 1 31058 1322 6174 664 5448 3562 11508 1466 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 10 2 0 0 1 1 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.370 -1.974 196 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.C1392T:p.A464A . . . 0.14925373 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 67.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14462\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.96e-05 0 0 0 0 0 0 0.0003 0.0130 0.0040 0.0090 0 0 0.0049 0.0007 0.0054 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 4 191003487 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003487 191003487 Chr4(GRCh37):g.191003487G>A -1897 -1897 NM_033178.2:c.-1897G>A p.? p.? 1 606009 0.000782 0.006192 0.000000 0.001479 0.000000 0.000000 0.000132 0.000000 0.000779 0.006192 32 28 0 1 0 0 2 0 1 40934 4522 6504 676 6184 3532 15198 3034 1284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 28 0 1 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.787 0.932 126 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1398A:p.S466S . . . 0.17460318 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14468\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.969e-05 0 0.0017 0 0 0 0 0 0.0067 0.0020 0 0 0 0 0.0003 0.0018 . . . . . . . . . . . 1.0E-126 . . . . . . . . . . . . . . . . 1 1538 18 1/0 0,255,255 +. 4 191003506 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003506 191003506 Chr4(GRCh37):g.191003506G>A -1878 -1878 NM_033178.2:c.-1878G>A p.? p.? 1 606009 0.000180 0.000217 0.000000 0.000000 0.000000 0.000000 0.000000 0.000716 0.000000 0.000716 3 1 0 0 0 0 0 2 0 16652 4614 512 100 1074 0 6980 2792 580 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition G A G>A 0.669 1.174 156 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1417A:p.E473K . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14487\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.05 . . . . . . . . . . . . . VI.83 . . . . . 0.010000 . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0 0 0 0.0007 0 0 . . . . 0.398 0.398000 . . 0.010000 . . 1.0E-156 . . . . . . . . . 0.398 . . . . . . 1 1538 10 1/0 0,244,255 +. 4 191003512 G T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003512 191003512 Chr4(GRCh37):g.191003512G>T -1872 -1872 NM_033178.2:c.-1872G>T p.? p.? 1 606009 0.000047 0.000000 0.000000 0.000000 0.000000 0.000000 0.000116 0.000000 0.000000 0.000116 1 0 0 0 0 0 1 0 0 21338 6744 682 108 1244 0 8600 3268 692 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion G T G>T 0.213 0.125 188 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1423T:p.E475X . . . 0.13235295 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14493\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.02 . . . . . . . . . . . . . II.18 . . . . . 0.010000 . . . . . . . . . . . . . . . . . . . 0 4.686e-05 0 0 0 0 0.0001 0 . . . . 0.398 0.398000 . . 0.010000 . . 1.0E-188 . . . . . . . . . 0.398 . . . . . . 1 1538 10 1/0 0,245,255 +. 4 191003519 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003519 191003519 Chr4(GRCh37):g.191003519G>A -1865 -1865 NM_033178.2:c.-1865G>A p.? p.? 1 606009 0.001075 0.003846 0.002591 0.000000 0.000000 0.000000 0.000000 0.000426 0.000000 0.003846 14 12 1 0 0 0 0 1 0 13028 3120 386 84 766 0 5872 2346 454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 12 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition G A G>A 0.024 -0.440 104 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1430A:p.R477Q . . . 0.13513513 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14500\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.18 . . . . . . . . . . . . . IV.29 . . . . . 0.360000 . . . . . . . . . . . . . . . . . . . 0.0038 0.0011 0.0026 0 0 0.0004 0 0 . . . . -0.561 -0.561000 . . 0.360000 . . 1.0E-104 . . . . . . . . . -0.561 . . . . . . 1 1538 17 1/0 0,249,255 +rs797041664 4 191003629 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003629 191003629 Chr4(GRCh37):g.191003629G>A -1755 -1755 NM_033178.2:c.-1755G>A p.? p.? 1 606009 rs797041664 no no 0 0.000000 0 0.008468 0.036082 0.026316 0.000000 0.000000 0.000000 0.002457 0.013986 0.020408 0.036082 23 7 2 0 0 0 4 8 2 2716 194 76 58 90 0 1628 572 98 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 2 0 0 0 4 8 2 0 0 0 0 0 0 0 0 0 RF 287 Genomes transition G A G>A 0.370 -0.037 159 PASS . . . . . . . . . . . . . . . . 0.15730338 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14610\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0361 0.0085 0.0263 0 0 0.0140 0.0025 0.0204 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs797035197 4 191003637 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003637 191003637 Chr4(GRCh37):g.191003637G>C -1747 -1747 NM_033178.2:c.-1747G>C p.? p.? 1 606009 rs797035197 no no 0 0.000000 0 transversion G C G>C 0.370 -2.377 232 PASS . . . . . . . . . . . . . . . . 0.52873564 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14618\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . . . 1 1538 19 1/0 0,255,255 +. 4 191003683 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003683 191003683 Chr4(GRCh37):g.191003683T>C -1701 -1701 NM_033178.2:c.-1701T>C p.? p.? 1 606009 0.002999 0.000306 0.014451 0.000000 0.000000 0.000000 0.002958 0.012097 0.003472 0.014451 56 2 5 0 0 0 23 24 2 18674 6540 346 84 1368 0 7776 1984 576 0.017857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.041667 0.000000 1 0 0 0 0 0 0 1 0 54 2 5 0 0 0 23 22 2 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition T C T>C 0.913 0.851 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 92.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14664\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0030 0.0145 0 0 0.0121 0.0030 0.0035 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +. 4 191003716 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003716 191003716 Chr4(GRCh37):g.191003716G>A -1668 -1668 NM_033178.2:c.-1668G>A p.? p.? 1 606009 0.008701 0.019417 0.000000 0.000000 0.000000 0.000000 0.005902 0.046875 0.016667 0.046875 15 4 0 0 0 0 7 3 1 1724 206 36 36 136 0 1186 64 60 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 4 0 0 0 0 7 3 1 0 0 0 0 0 0 0 0 0 RF 131 Genomes transition G A G>A 0.646 0.932 180 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14697\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0194 0.0087 0 0 0 0.0469 0.0059 0.0167 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 4 191003745 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003745 191003745 Chr4(GRCh37):g.191003745C>T -1639 -1639 NM_033178.2:c.-1639C>T p.? p.? 1 606009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 576 58 8 6 50 0 410 16 28 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 183 Genomes transition C T C>T 0.047 -0.924 174 PASS . . . . . . . . . . . . . . . . 0.102564104 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14726\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs371772882 4 191003746 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003746 191003746 Chr4(GRCh37):g.191003746G>A -1638 -1638 NM_033178.2:c.-1638G>A p.? p.? 1 606009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 802 100 12 10 92 0 536 26 26 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 129 Genomes transition G A G>A 0.047 0.367 147 PASS . . . . . . . . . . . . . . . . 0.14102565 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intergenic . . . @ . . . 0.53 0.3 182 ENSG00000258834 DUX4L4 . . . dist\x3d14727\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-147 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 4 191003761 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003761 191003761 Chr4(GRCh37):g.191003761G>A -1623 -1623 NM_033178.2:c.-1623G>A p.? p.? 1 606009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 434 50 10 4 34 0 302 20 14 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 196 Genomes transition G A G>A 0.087 1.093 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intergenic . . . @ . . . 0.51 0.24 182 ENSG00000258834 DUX4L4 . . . dist\x3d14742\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 4 191003778 G T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003778 191003778 Chr4(GRCh37):g.191003778G>T -1606 -1606 NM_033178.2:c.-1606G>T p.? p.? 1 606009 transversion G T G>T 0.189 0.932 179 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14759\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 4 191003784 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003784 191003784 Chr4(GRCh37):g.191003784C>T -1600 -1600 NM_033178.2:c.-1600C>T p.? p.? 1 606009 transition C T C>T 0.039 0.932 133 PASS . . . . . . . . . . . . . . . . 0.116883114 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 77.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14765\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-133 . . . . . . . . . . . . . rs71206220 . . 1 1538 10 1/0 0,241,255 +. 4 191003785 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003785 191003785 Chr4(GRCh37):g.191003785G>A -1599 -1599 NM_033178.2:c.-1599G>A p.? p.? 1 606009 transition G A G>A 0.031 0.044 182 PASS . . . . . . . . . . . . . . . . 0.118421055 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 76.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14766\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 4 191005410 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005410 191005410 Chr4(GRCh37):g.191005410T>C 27 27 NM_033178.2:c.27T>C p.Cys9= p.Cys9Cys 1 606009 transition T C T>C 0.843 -1.893 C Cys TGT 0.448 C Cys TGC 0.552 9 183 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.T27C:p.C9C . . . . 0.25925925 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3267T>C dist\x3d16391\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005424 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005424 191005424 Chr4(GRCh37):g.191005424G>A 41 41 NM_033178.2:c.41G>A p.Gly14Glu p.Gly14Glu 1 606009 transition G A G>A 0.819 -2.135 G Gly GGG 0.250 E Glu GAG 0.583 14 4 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 237 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G41A:p.G14E . . . . 0.27272728 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 22.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.4959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3253G>A dist\x3d16405\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . 2.1866 . ENST00000556625 . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.068 -2.068000 . . 0.340000 . . 1.0E-237 . . . . . . . . . -2.068 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005435 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005435 191005435 Chr4(GRCh37):g.191005435G>C 52 52 NM_033178.2:c.52G>C p.Gly18Arg p.Gly18Arg 1 606009 transversion G C G>C 0.969 -2.216 G Gly GGC 0.342 R Arg CGC 0.190 18 4 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 210 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G52C:p.G18R . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.4378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3242G>C dist\x3d16416\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . 2.1479 . ENST00000556625 . . . 0.040000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.418 -2.418000 . . 0.040000 . . 1.0E-210 . . . . . . . . . -2.418 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005444 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005444 191005444 Chr4(GRCh37):g.191005444G>C 61 61 NM_033178.2:c.61G>C p.Ala21Pro p.Ala21Pro 1 606009 transversion G C G>C 0.992 0.205 A Ala GCT 0.263 P Pro CCT 0.283 21 4 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 185 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G61C:p.A21P . . . . 0.125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3233G>C dist\x3d16425\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.46 . ENST00000556625 . . . 0.160000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.064 0.064000 . . 0.160000 . . 1.0E-185 . . . . . . . . . 0.064 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005451 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005451 191005451 Chr4(GRCh37):g.191005451G>A 68 68 NM_033178.2:c.68G>A p.Arg23Gln p.Arg23Gln 1 606009 transition G A G>A 0.969 0.205 R Arg CGG 0.207 Q Gln CAG 0.744 23 4 1 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 121 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G68A:p.R23Q . . . . 0.13333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3226G>A dist\x3d16432\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.46 . ENST00000556625 . . . 0.270000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.064 0.064000 . . 0.270000 . . 1.0E-121 . . . . . . . . . 0.064 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005460 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005460 191005460 Chr4(GRCh37):g.191005460T>C 77 77 NM_033178.2:c.77T>C p.Leu26Pro p.Leu26Pro 1 606009 transition T C T>C 0.795 -0.279 L Leu CTC 0.197 P Pro CCC 0.328 26 4 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 178 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.T77C:p.L26P . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8364 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3217T>C dist\x3d16441\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.04 . ENST00000556625 . . . 0.070000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.056 0.056000 . . 0.070000 . . 1.0E-178 . . . . . . . . . 0.056 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005477 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005477 191005477 Chr4(GRCh37):g.191005477G>A 94 94 NM_033178.2:c.94G>A p.Ala32Thr p.Ala32Thr 1 606009 transition G A G>A 1.000 2.304 A Ala GCA 0.226 T Thr ACA 0.280 32 4 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 119 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G94A:p.A32T . . . . 0.125 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3200G>A dist\x3d16458\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . VI.23 . ENST00000556625 . . . 0.060000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.473 0.473000 . . 0.060000 . . 1.0E-119 . . . . . . . . . 0.473 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005488 T G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005488 191005488 Chr4(GRCh37):g.191005488T>G 105 105 NM_033178.2:c.105T>G p.Ser35Arg p.Ser35Arg 1 606009 transversion T G T>G 0.819 -2.216 S Ser AGT 0.149 R Arg AGG 0.207 35 4 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 205 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.T105G:p.S35R . . . . 0.32692307 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.8174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3189T>G dist\x3d16469\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . 2.115 . ENST00000556625 0.575 -0.93 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.618 -2.618000 . . 1.000000 . . 1.0E-205 . . . . . . . . . -2.618 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005531 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005531 191005531 Chr4(GRCh37):g.191005531C>T 148 148 NM_033178.2:c.148C>T p.Arg50Cys p.Arg50Cys 1 606009 transition C T C>T 0.937 -1.893 R Arg CGT 0.082 C Cys TGT 0.448 50 4 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 224 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.C148T:p.R50C . . . . 0.21875 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.4078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . 0.53 0.26 182 ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3146C>T dist\x3d16512\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . III.03 . ENST00000556625 . . . 0.270000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.037 -2.037000 . . 0.270000 . . 1.0E-224 . . . . . . . . . -2.037 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005561 A C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005561 191005561 Chr4(GRCh37):g.191005561A>C 178 178 NM_033178.2:c.178A>C p.Thr60Pro p.Thr60Pro 1 606009 transversion A C A>C 0.717 0.205 T Thr ACC 0.361 P Pro CCC 0.328 60 4 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 185 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.A178C:p.T60P . . . . 0.125 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 56.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3116A>C dist\x3d16542\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.58 . ENST00000556625 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 1.000000 . . 1.0E-185 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,253,255 +. 4 191005597 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005597 191005597 Chr4(GRCh37):g.191005597C>T 214 214 NM_033178.2:c.214C>T p.Leu72Phe p.Leu72Phe 1 606009 transition C T C>T 0.520 -0.763 L Leu CTC 0.197 F Phe TTC 0.546 72 4 2 Macaque 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 146 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3080C>T dist\x3d16578\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . V.27 . . . . . 0.600000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.052 -1.052000 . . 0.600000 . . 1.0E-146 . . . . . . . . . -1.052 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005620 A G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005620 191005620 Chr4(GRCh37):g.191005620A>G 237 237 NM_033178.2:c.237A>G p.Arg79= p.Arg79Arg 1 606009 Homeobox transition A G A>G 0.976 0.609 R Arg CGA 0.110 R Arg CGG 0.207 79 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3057A>G dist\x3d16601\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 4 191005624 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005624 191005624 Chr4(GRCh37):g.191005624C>T 241 241 NM_033178.2:c.241C>T p.Arg81Trp p.Arg81Trp 1 606009 Homeobox transition C T C>T 0.992 1.013 R Arg CGG 0.207 W Trp TGG 1.000 81 4 4 Lesser hedgehog tenrec -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C65 0.00 101.29 Deleterious 0 IV.32 bad 1.233E-4 0.0001143 124 PASS . . . . . . . . . . . . . . . . 0.12745099 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3053C>T dist\x3d16605\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.000000 . . 1.0E-124 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,231,255 +. 4 191005630 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005630 191005630 Chr4(GRCh37):g.191005630C>A 247 247 NM_033178.2:c.247C>A p.Arg83= p.Arg83Arg 1 606009 Homeobox transversion C A C>A 0.937 -0.198 R Arg CGG 0.207 R Arg AGG 0.207 83 220 PASS . . . . . . . . . . . . . . . . 0.4181818 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3047C>A dist\x3d16611\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 4 191005649 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005649 191005649 Chr4(GRCh37):g.191005649C>T 266 266 NM_033178.2:c.266C>T p.Pro89Leu p.Pro89Leu 1 606009 Homeobox transition C T C>T 0.268 -1.005 P Pro CCG 0.115 L Leu CTG 0.404 89 4 3 Elephant -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C25 37.56 76.16 Deleterious 0.04 IV.32 bad 7.373E-5 0.0003853 154 PASS . . . . . . . . . . . . . . . . 0.15151516 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 165.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3028C>T dist\x3d16630\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . 0.200000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.073 -1.073000 . . 0.200000 . . 1.0E-154 . . . . . . . . . -1.073 . . . . . . 1 1538 10 1/0 0,211,255 +. 4 191005685 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005685 191005685 Chr4(GRCh37):g.191005685G>A 302 302 NM_033178.2:c.302G>A p.Arg101Gln p.Arg101Gln 1 606009 Homeobox transition G A G>A 0.315 -0.763 R Arg CGG 0.207 Q Gln CAG 0.744 101 4 2 Macaque 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 116.23 0.00 Tolerated 0.26 IV.32 good 9.354E-1 0.04084 177 PASS . . . . . . . . . . . . . . . . 0.10775862 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 232.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2992G>A dist\x3d16666\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.84 . . . . . 0.320000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.074 -1.074000 . . 0.320000 . . 1.0E-177 . . . . . . . . . -1.074 . . . . . . 1 1538 10 1/0 0,191,255 +. 4 191005692 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005692 191005692 Chr4(GRCh37):g.191005692G>A 309 309 NM_033178.2:c.309G>A p.Pro103= p.Pro103Pro 1 606009 Homeobox transition G A G>A 0.969 0.205 P Pro CCG 0.115 P Pro CCA 0.274 103 154 PASS . . . . . . . . . . . . . . . . 0.18292683 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 246.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2985G>A dist\x3d16673\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-154 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,198,255 +. 4 191005704 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005704 191005704 Chr4(GRCh37):g.191005704C>T 321 321 NM_033178.2:c.321C>T p.Ile107= p.Ile107Ile 1 606009 Homeobox transition C T C>T 0.622 -1.086 I Ile ATC 0.481 I Ile ATT 0.356 107 187 PASS . . . . . . . . . . . . . . . . 0.12781955 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 266.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2973C>T dist\x3d16685\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +. 4 191005705 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005705 191005705 Chr4(GRCh37):g.191005705G>A 322 322 NM_033178.2:c.322G>A p.Ala108Thr p.Ala108Thr 1 606009 Homeobox transition G A G>A 0.646 2.223 A Ala GCC 0.403 T Thr ACC 0.361 108 4 2 Macaque 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 58.02 0.00 Tolerated 0.34 IV.32 good 7.676E-1 0.01399 174 PASS . . . . . . . . . . . . . . . . 0.16541353 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 266.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2972G>A dist\x3d16686\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . VI.18 . . . . . 0.620000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.620000 . . 1.0E-174 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,191,255 +. 4 191005734 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005734 191005734 Chr4(GRCh37):g.191005734C>T 351 351 NM_033178.2:c.351C>T p.Ile117= p.Ile117Ile 1 606009 Homeobox transition C T C>T 0.150 -0.602 I Ile ATC 0.481 I Ile ATT 0.356 117 132 PASS . . . . . . . . . . . . . . . . 0.102389075 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 293.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2943C>T dist\x3d16715\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-132 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,182,255 +. 4 191005742 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005742 191005742 Chr4(GRCh37):g.191005742C>T 359 359 NM_033178.2:c.359C>T p.Pro120Leu p.Pro120Leu 1 606009 Homeobox transition C T C>T 0.110 0.609 P Pro CCG 0.115 L Leu CTG 0.404 120 4 2 Macaque -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 107.75 57.64 Tolerated 0.05 IV.32 good 4.01E-1 0.3977 171 PASS . . . . . . . . . . . . . . . . 0.12631579 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 285.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2935C>T dist\x3d16723\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . VI.18 . . . . . 0.170000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.170000 . . 1.0E-171 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,185,255 +. 4 191005743 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005743 191005743 Chr4(GRCh37):g.191005743G>A 360 360 NM_033178.2:c.360G>A p.Pro120= p.Pro120Pro 1 606009 Homeobox transition G A G>A 0.118 0.690 P Pro CCG 0.115 P Pro CCA 0.274 120 178 PASS . . . . . . . . . . . . . . . . 0.10752688 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 279.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2934G>A dist\x3d16724\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +. 4 191005783 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005783 191005783 Chr4(GRCh37):g.191005783C>T 400 400 NM_033178.2:c.400C>T p.Arg134Cys p.Arg134Cys 1 606009 Homeobox transition C T C>T 0.417 1.174 R Arg CGC 0.190 C Cys TGC 0.552 134 4 2 Macaque -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 126.06 139.73 Deleterious 0.02 IV.32 good 1.501E-2 0.1077 136 PASS . . . . . . . . . . . . . . . . 0.12796208 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 211.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2894C>T dist\x3d16764\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . 0.070000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.070000 . . 1.0E-136 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,199,255 +. 4 191005802 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005802 191005802 Chr4(GRCh37):g.191005802G>A 419 419 NM_033178.2:c.419G>A p.Arg140Gln p.Arg140Gln 1 606009 Homeobox transition G A G>A 0.693 1.739 R Arg CGG 0.207 Q Gln CAG 0.744 140 4 4 Lesser hedgehog tenrec 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C35 0.00 42.81 Deleterious 0 IV.32 bad 1.458E-3 0.0001143 184 PASS . . . . . . . . . . . . . . . . 0.12087912 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 182.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2875G>A dist\x3d16783\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . VI.18 . . . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.340000 . . 9.999999999999999E-185 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,202,255 +. 4 191005841 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005841 191005841 Chr4(GRCh37):g.191005841C>A 458 458 NM_033178.2:c.458C>A p.Pro153Gln p.Pro153Gln 1 606009 Homeobox transversion C A C>A 0.992 0.528 P Pro CCA 0.274 Q Gln CAA 0.256 153 4 3 Lesser hedgehog tenrec -1 -1 -3 0.39 0.89 8 10.V 32.5 85 76 C0 102.71 34.34 Tolerated 0.06 IV.32 good 3.935E-1 0.2855 225 PASS . . . . . . . . . . . . . . . . 0.22857143 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 105.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2836C>A dist\x3d16822\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . 0.330000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.330000 . . 1.0E-225 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,237,255 +. 4 191005849 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005849 191005849 Chr4(GRCh37):g.191005849C>A 466 466 NM_033178.2:c.466C>A p.Arg156= p.Arg156Arg 1 606009 Homeobox transversion C A C>A 0.992 1.497 R Arg CGG 0.207 R Arg AGG 0.207 156 216 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2828C>A dist\x3d16830\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 4 191006004 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006004 191006004 Chr4(GRCh37):g.191006004G>A 621 621 NM_033178.2:c.621G>A p.Arg207= p.Arg207Arg 1 606009 Homeobox Helix-turn-helix motif transition G A G>A 0.598 0.367 R Arg AGG 0.207 R Arg AGA 0.205 207 205 PASS . . . . . . . . . . . . . . . . 0.17460318 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2673G>A dist\x3d16985\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 4 191006024 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006024 191006024 Chr4(GRCh37):g.191006024G>C 641 641 NM_033178.2:c.641G>C p.Gly214Ala p.Gly214Ala 1 606009 Homeobox transversion G C G>C 0.000 -0.279 G Gly GGT 0.162 A Ala GCT 0.263 214 4 2 Macaque 0 0 0 0.74 0 9 8.I 3 31 60 C0 135.70 46.95 Tolerated 0.27 IV.32 good 1.767E-1 0.1667 255 PASS . . . . . . . . . . . . . . . . 0.37096775 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 62.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2653G>C dist\x3d17005\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . I.28 . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.588 -0.588000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.588 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006028 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006028 191006028 Chr4(GRCh37):g.191006028C>A 645 645 NM_033178.2:c.645C>A p.Gly215= p.Gly215Gly 1 606009 Homeobox transversion C A C>A 0.000 -1.409 G Gly GGC 0.342 G Gly GGA 0.246 215 179 PASS . . . . . . . . . . . . . . . . 0.11290322 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 62.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2649C>A dist\x3d17009\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 4 191006037 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006037 191006037 Chr4(GRCh37):g.191006037C>T 654 654 NM_033178.2:c.654C>T p.Pro218= p.Pro218Pro 1 606009 transition C T C>T 0.000 -1.409 P Pro CCC 0.328 P Pro CCT 0.283 218 182 PASS . . . . . . . . . . . . . . . . 0.118644066 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 59.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2640C>T dist\x3d17018\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 4 191006040 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006040 191006040 Chr4(GRCh37):g.191006040G>A 657 657 NM_033178.2:c.657G>A p.Ala219= p.Ala219Ala 1 606009 transition G A G>A 0.000 -1.167 A Ala GCG 0.107 A Ala GCA 0.226 219 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 57.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2637G>A dist\x3d17021\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 4 191006049 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006049 191006049 Chr4(GRCh37):g.191006049C>T 666 666 NM_033178.2:c.666C>T p.Gly222= p.Gly222Gly 1 606009 transition C T C>T 0.000 -1.409 G Gly GGC 0.342 G Gly GGT 0.162 222 189 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2628C>T dist\x3d17030\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006050 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006050 191006050 Chr4(GRCh37):g.191006050G>A 667 667 NM_033178.2:c.667G>A p.Gly223Ser p.Gly223Ser 1 606009 transition G A G>A 0.000 0.528 G Gly GGC 0.342 S Ser AGC 0.243 223 4 2 Macaque 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 181 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 51.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2627G>A dist\x3d17031\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.56 . . . . . 0.820000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.588 -0.588000 . . 0.820000 . . 1.0E-181 . . . . . . . . . -0.588 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006054 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006054 191006054 Chr4(GRCh37):g.191006054T>C 671 671 NM_033178.2:c.671T>C p.Leu224Pro p.Leu224Pro 1 606009 transition T C T>C 0.000 0.044 L Leu CTG 0.404 P Pro CCG 0.115 224 4 2 Macaque -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 195 PASS . . . . . . . . . . . . . . . . 0.14893617 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2623T>C dist\x3d17035\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.11 . . . . . 0.210000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.331 0.331000 . . 0.210000 . . 9.999999999999999E-196 . . . . . . . . . 0.331 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006055 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006055 191006055 Chr4(GRCh37):g.191006055G>A 672 672 NM_033178.2:c.672G>A p.Leu224= p.Leu224Leu 1 606009 transition G A G>A 0.000 -0.117 L Leu CTG 0.404 L Leu CTA 0.070 224 191 PASS . . . . . . . . . . . . . . . . 0.14 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2622G>A dist\x3d17036\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006077 G T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006077 191006077 Chr4(GRCh37):g.191006077G>T 694 694 NM_033178.2:c.694G>T p.Gly232Cys p.Gly232Cys 1 606009 transversion G T G>T 0.016 -0.279 G Gly GGT 0.162 C Cys TGT 0.448 232 4 1 -3 -3 -6 0.74 II.75 9 5.V 3 55 159 C0 353.86 0.00 Tolerated 0.17 IV.32 unknown 0.0 0.0 246 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2600G>T dist\x3d17058\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . 0.190000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.588 -0.588000 . . 0.190000 . . 1.0E-246 . . . . . . . . . -0.588 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006101 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006101 191006101 Chr4(GRCh37):g.191006101G>A 718 718 NM_033178.2:c.718G>A p.Ala240Thr p.Ala240Thr 1 606009 transition G A G>A 0.992 1.900 A Ala GCC 0.403 T Thr ACC 0.361 240 4 2 Macaque 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 209.31 29.38 Tolerated 0.06 IV.32 good 1.479E-2 0.001482 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 58.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2576G>A dist\x3d17082\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . V.78 . . . . . 0.600000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.600000 . . 1.0E-175 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,250,255 +. 4 191006118 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006118 191006118 Chr4(GRCh37):g.191006118C>T 735 735 NM_033178.2:c.735C>T p.Gly245= p.Gly245Gly 1 606009 transition C T C>T 0.890 0.932 G Gly GGC 0.342 G Gly GGT 0.162 245 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2559C>T dist\x3d17099\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006121 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006121 191006121 Chr4(GRCh37):g.191006121G>A 738 738 NM_033178.2:c.738G>A p.Ala246= p.Ala246Ala 1 606009 transition G A G>A 0.661 1.900 A Ala GCG 0.107 A Ala GCA 0.226 246 141 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2556G>A dist\x3d17102\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-141 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006129 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006129 191006129 Chr4(GRCh37):g.191006129C>T 746 746 NM_033178.2:c.746C>T p.Thr249Met p.Thr249Met 1 606009 transition C T C>T 0.465 1.900 T Thr ACG 0.116 M Met ATG 1.000 249 4 2 Macaque -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 215.24 59.13 Deleterious 0.01 IV.32 good 2.581E-2 0.01641 108 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2548C>T dist\x3d17110\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . V.78 . . . . . 0.140000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.140000 . . 1.0E-108 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006139 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006139 191006139 Chr4(GRCh37):g.191006139C>T 756 756 NM_033178.2:c.756C>T p.Pro252= p.Pro252Pro 1 606009 transition C T C>T 0.370 -0.602 P Pro CCC 0.328 P Pro CCT 0.283 252 151 PASS . . . . . . . . . . . . . . . . 0.14634146 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2538C>T dist\x3d17120\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-151 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006140 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006140 191006140 Chr4(GRCh37):g.191006140G>A 757 757 NM_033178.2:c.757G>A p.Ala253Thr p.Ala253Thr 1 606009 transition G A G>A 0.362 1.900 A Ala GCA 0.226 T Thr ACA 0.280 253 4 2 Macaque 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 240.36 8.IX Tolerated 0.16 IV.32 bad 2.849E-3 0.003104 217 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2537G>A dist\x3d17121\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . V.78 . . . . . 0.620000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.620000 . . 1.0E-217 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006141 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006141 191006141 Chr4(GRCh37):g.191006141C>A 758 758 NM_033178.2:c.758C>A p.Ala253Glu p.Ala253Glu 1 606009 transversion C A C>A 0.244 -0.682 A Ala GCA 0.226 E Glu GAA 0.417 253 4 2 Macaque -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 240.36 67.97 Tolerated 0.12 IV.32 bad 1.81E-5 0.003104 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2536C>A dist\x3d17122\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . III.11 . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 1.000000 . . 9.999999999999999E-193 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006148 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006148 191006148 Chr4(GRCh37):g.191006148C>T 765 765 NM_033178.2:c.765C>T p.His255= p.His255His 1 606009 transition C T C>T 0.307 -0.763 H His CAC 0.587 H His CAT 0.413 255 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2529C>T dist\x3d17129\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006159 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006159 191006159 Chr4(GRCh37):g.191006159C>T 776 776 NM_033178.2:c.776C>T p.Ala259Val p.Ala259Val 1 606009 transition C T C>T 0.803 0.205 A Ala GCG 0.107 V Val GTG 0.468 259 4 2 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 251 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2518C>T dist\x3d17140\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . III.11 . . . . . 0.290000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.290000 . . 1.0E-251 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006173 C G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006173 191006173 Chr4(GRCh37):g.191006173C>G 790 790 NM_033178.2:c.790C>G p.Pro264Ala p.Pro264Ala 1 606009 transversion C G C>G 0.976 1.013 P Pro CCA 0.274 A Ala GCA 0.226 264 4 1 -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 115 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 35.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2504C>G dist\x3d17154\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . 0.440000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.440000 . . 1.0E-115 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006198 C G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006198 191006198 Chr4(GRCh37):g.191006198C>G 815 815 NM_033178.2:c.815C>G p.Ala272Gly p.Ala272Gly 1 606009 transversion C G C>G 0.992 1.577 A Ala GCA 0.226 G Gly GGA 0.246 272 4 1 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 21.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2479C>G dist\x3d17179\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . V.78 . . . . . 0.630000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.630000 . . 1.0E-255 . . . . . . . . . -0.000 . . . . rs80113703 rs80113703 1 1538 10 1/0 0,255,255 +. 4 191006283 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006283 191006283 Chr4(GRCh37):g.191006283C>T 900 900 NM_033178.2:c.900C>T p.Phe300= p.Phe300Phe 1 606009 transition C T C>T 0.189 1.174 F Phe TTC 0.546 F Phe TTT 0.454 300 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2394C>T dist\x3d17264\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006310 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006310 191006310 Chr4(GRCh37):g.191006310C>A 927 927 NM_033178.2:c.927C>A p.Asp309Glu p.Asp309Glu 1 606009 transversion C A C>A 0.882 -0.037 D Asp GAC 0.539 E Glu GAA 0.417 309 4 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2367C>A dist\x3d17291\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.000000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006340 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006340 191006340 Chr4(GRCh37):g.191006340G>C 957 957 NM_033178.2:c.957G>C p.Arg319= p.Arg319Arg 1 606009 transversion G C G>C 0.102 -0.440 R Arg CGG 0.207 R Arg CGC 0.190 319 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2337G>C dist\x3d17321\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006349 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006349 191006349 Chr4(GRCh37):g.191006349G>A 966 966 NM_033178.2:c.966G>A p.Pro322= p.Pro322Pro 1 606009 transition G A G>A 0.205 1.174 P Pro CCG 0.115 P Pro CCA 0.274 322 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2328G>A dist\x3d17330\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006354 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006354 191006354 Chr4(GRCh37):g.191006354C>T 971 971 NM_033178.2:c.971C>T p.Pro324Leu p.Pro324Leu 1 606009 transition C T C>T 0.063 -1.086 P Pro CCG 0.115 L Leu CTG 0.404 324 4 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 177 PASS . . . . . . . . . . . . . . . . 0.19565217 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2323C>T dist\x3d17335\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . 4.0654 . . . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.073 -1.073000 . . 0.000000 . . 1.0E-177 . . . . . . . . . -1.073 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006355 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006355 191006355 Chr4(GRCh37):g.191006355G>A 972 972 NM_033178.2:c.972G>A p.Pro324= p.Pro324Pro 1 606009 transition G A G>A 0.039 -0.440 P Pro CCG 0.115 P Pro CCA 0.274 324 131 PASS . . . . . . . . . . . . . . . . 0.14583333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2322G>A dist\x3d17336\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-131 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006727 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006727 191006727 Chr4(GRCh37):g.191006727G>A 1344 1344 NM_033178.2:c.1344G>A p.Ala448= p.Ala448Ala 1 606009 transition G A G>A 0.000 -2.216 A Ala GCG 0.107 A Ala GCA 0.226 448 177 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1950G>A dist\x3d17708\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006734 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006734 191006734 Chr4(GRCh37):g.191006734C>T 1351 1351 NM_033178.2:c.1351C>T p.Leu451Phe p.Leu451Phe 1 606009 transition C T C>T 0.000 -1.812 L Leu CTC 0.197 F Phe TTC 0.546 451 4 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.7692308 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 26.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.6060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1943C>T dist\x3d17715\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . IV.29 . . . . . 0.690000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.872 -1.872000 . . 0.690000 . . 1.0E-255 . . . . . . . . . -1.872 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006771 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006771 191006771 Chr4(GRCh37):g.191006771C>T 1388 1388 NM_033178.2:c.1388C>T p.Ser463Leu p.Ser463Leu 1 606009 transition C T C>T 0.000 -2.135 S Ser TCG 0.056 L Leu TTG 0.127 463 4 1 -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.9032258 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.5402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1906C>T dist\x3d17752\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . 0.430000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.037 -2.037000 . . 0.430000 . . 1.0E-255 . . . . . . . . . -2.037 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006781 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006781 191006781 Chr4(GRCh37):g.191006781C>T 1398 1398 NM_033178.2:c.1398C>T p.Ala466= p.Ala466Ala 1 606009 transition C T C>T 0.000 -0.440 A Ala GCC 0.403 A Ala GCT 0.263 466 171 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 34.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1896C>T dist\x3d17762\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006787 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006787 191006787 Chr4(GRCh37):g.191006787G>A 1404 1404 NM_033178.2:c.1404G>A p.Ser468= p.Ser468Ser 1 606009 transition G A G>A 0.079 -0.521 S Ser TCG 0.056 S Ser TCA 0.148 468 193 PASS . . . . . . . . . . . . . . . . 0.2647059 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 34.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1890G>A dist\x3d17768\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006818 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006818 191006818 Chr4(GRCh37):g.191006818C>T 1435 1435 NM_033178.2:c.1435C>T p.Arg479Trp p.Arg479Trp 1 606009 transition C T C>T 0.063 0.125 R Arg CGG 0.207 W Trp TGG 1.000 479 4 1 -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 35.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1859C>T dist\x3d17799\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.18 . . . . . 0.110000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.398 0.398000 . . 0.110000 . . 9.999999999999999E-193 . . . . . . . . . 0.398 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006920 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191006920 191006920 Chr4(GRCh37):g.191006920C>T *79 *79 NM_033178.2:c.*79C>T p.? p.? 1 606009 transition C T C>T 0.079 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.5714286 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1757C>T dist\x3d17901\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008703 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008703 191008703 Chr4(GRCh37):g.191008703T>C *1862 *1862 NM_033178.2:c.*1862T>C p.? p.? 1 606009 transition T C T>C 0.953 0.125 239 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.T27C:p.C9C DUX4L5:uc011clk.2:exon1:c.T27C:p.C9C . . . 0.28 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 25.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.4 0.35 182 ENSG00000259034 DUX4L5 . . . dist\x3d19684\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008713 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008713 191008713 Chr4(GRCh37):g.191008713C>T *1872 *1872 NM_033178.2:c.*1872C>T p.? p.? 1 606009 transition C T C>T 0.898 -1.974 177 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.C37T:p.Q13X DUX4L5:uc011clk.2:exon1:c.C37T:p.Q13X . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . . exonic exonic intergenic . . . @ . . . 0.53 0.32 182 ENSG00000259034 DUX4L5 . . . dist\x3d19694\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.79 . . . . . . . . . . . . . IV.62 . ENST00000554690 . . . 0.670000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.037 -2.037000 . . 0.670000 . . 1.0E-177 . . . . . . . . . -2.037 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008717 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008717 191008717 Chr4(GRCh37):g.191008717G>A *1876 *1876 NM_033178.2:c.*1876G>A p.? p.? 1 606009 transition G A G>A 0.945 -1.893 233 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.G41A:p.G14E DUX4L5:uc011clk.2:exon1:c.G41A:p.G14E . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.6441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.57 0.41 182 ENSG00000259034 DUX4L5 . . . dist\x3d19698\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.22 . . . . . . . . . . . . . IV.62 . ENST00000554690 . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.068 -2.068000 . . 0.340000 . . 1.0000000000000001E-233 . . . . . . . . . -2.068 . . . . rs36191744 rs36191744 1 1538 10 1/0 0,255,255 +. 4 191008728 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008728 191008728 Chr4(GRCh37):g.191008728G>C *1887 *1887 NM_033178.2:c.*1887G>C p.? p.? 1 606009 transversion G C G>C 0.969 -0.279 211 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.G52C:p.G18R DUX4L5:uc011clk.2:exon1:c.G52C:p.G18R . . . 0.19354838 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.55 0.3 182 ENSG00000259034 DUX4L5 . . . dist\x3d19709\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.88 . . . . . . . . . . . . . III.85 . ENST00000554690 . . . 0.040000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.064 0.064000 . . 0.040000 . . 1.0E-211 . . . . . . . . . 0.064 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008753 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008753 191008753 Chr4(GRCh37):g.191008753T>C *1912 *1912 NM_033178.2:c.*1912T>C p.? p.? 1 606009 transition T C T>C 0.906 1.416 202 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.T77C:p.L26P DUX4L5:uc011clk.2:exon1:c.T77C:p.L26P . . . 0.1627907 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.52 0.27 182 ENSG00000259034 DUX4L5 . . . dist\x3d19734\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . IV.11 . ENST00000554690 . . . 0.070000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.331 0.331000 . . 0.070000 . . 1.0E-202 . . . . . . . . . 0.331 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008769 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008769 191008769 Chr4(GRCh37):g.191008769C>T *1928 *1928 NM_033178.2:c.*1928C>T p.? p.? 1 606009 transition C T C>T 0.992 1.577 178 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.C93T:p.A31A DUX4L5:uc011clk.2:exon1:c.C93T:p.A31A . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.52 0.29 182 ENSG00000259034 DUX4L5 . . . dist\x3d19750\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008770 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008770 191008770 Chr4(GRCh37):g.191008770G>A *1929 *1929 NM_033178.2:c.*1929G>A p.? p.? 1 606009 transition G A G>A 0.984 1.577 108 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.G94A:p.A32T DUX4L5:uc011clk.2:exon1:c.G94A:p.A32T . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.54 0.27 182 ENSG00000259034 DUX4L5 . . . dist\x3d19751\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . V.78 . ENST00000554690 . . . 0.060000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.060000 . . 1.0E-108 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008781 T G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008781 191008781 Chr4(GRCh37):g.191008781T>G *1940 *1940 NM_033178.2:c.*1940T>G p.? p.? 1 606009 transversion T G T>G 0.961 -1.086 234 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.T105G:p.S35R DUX4L5:uc011clk.2:exon1:c.T105G:p.S35R . . . 0.36363637 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.5140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.49 0.32 182 ENSG00000259034 DUX4L5 . . . dist\x3d19762\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 . . . . . . . . . . . . . 3.369 . ENST00000554690 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.104 -1.104000 . . 1.000000 . . 1.0E-234 . . . . . . . . . -1.104 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008824 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008824 191008824 Chr4(GRCh37):g.191008824C>T *1983 *1983 NM_033178.2:c.*1983C>T p.? p.? 1 606009 transition C T C>T 0.827 2.142 241 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.C148T:p.R50C DUX4L5:uc011clk.2:exon1:c.C148T:p.R50C . . . 0.27083334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.56 0.28 182 ENSG00000259034 DUX4L5 . . . dist\x3d19805\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.15 . . . . . . . . . . . . . V.78 . ENST00000554690 . . . 0.270000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.270000 . . 1.0E-241 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008854 A C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008854 191008854 Chr4(GRCh37):g.191008854A>C *2013 *2013 NM_033178.2:c.*2013A>C p.? p.? 1 606009 transversion A C A>C 0.165 0.851 187 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.A178C:p.T60P DUX4L5:uc011clk.2:exon1:c.A178C:p.T60P . . . 0.13043478 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.3964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.56 0.3 182 ENSG00000259034 DUX4L5 . . . dist\x3d19835\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.8 . . . . . . . . . . . . . IV.58 . ENST00000554690 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 1.000000 . . 1.0E-187 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. (chr4:191008890 C/T) 4 191008890 C T Not on a known gene +. (chr4:191008906 G/A) 4 191008906 G A Not on a known gene +. (chr4:191008913 A/G) 4 191008913 A G Not on a known gene +. (chr4:191008923 C/A) 4 191008923 C A Not on a known gene +. (chr4:191008942 C/T) 4 191008942 C T Not on a known gene +. (chr4:191008962 C/T) 4 191008962 C T Not on a known gene +. (chr4:191008985 G/A) 4 191008985 G A Not on a known gene +. (chr4:191008991 G/A) 4 191008991 G A Not on a known gene +. (chr4:191008997 C/T) 4 191008997 C T Not on a known gene +. (chr4:191009010 C/T) 4 191009010 C T Not on a known gene +. (chr4:191009036 G/A) 4 191009036 G A Not on a known gene +. (chr4:191009055 T/C) 4 191009055 T C Not on a known gene +. (chr4:191009077 G/A) 4 191009077 G A Not on a known gene +. (chr4:191009125 G/A) 4 191009125 G A Not on a known gene +. (chr4:191009134 C/A) 4 191009134 C A Not on a known gene +. (chr4:191009142 C/A) 4 191009142 C A Not on a known gene +. (chr4:191009234 G/A) 4 191009234 G A Not on a known gene +. (chr4:191009317 G/C) 4 191009317 G C Not on a known gene +. (chr4:191009370 G/T) 4 191009370 G T Not on a known gene +. (chr4:191009411 C/T) 4 191009411 C T Not on a known gene +. (chr4:191009452 C/T) 4 191009452 C T Not on a known gene +. (chr4:191009453 G/A) 4 191009453 G A Not on a known gene +. (chr4:191009491 C/G) 4 191009491 C G Not on a known gene +. (chr4:191009564 G/A) 4 191009564 G A Not on a known gene +. (chr4:191009576 C/T) 4 191009576 C T Not on a known gene +. (chr4:191009600 G/A) 4 191009600 G A Not on a known gene +. (chr4:191009603 C/A) 4 191009603 C A Not on a known gene +. (chr4:191009631 C/T) 4 191009631 C T Not on a known gene +. (chr4:191009633 G/C) 4 191009633 G C Not on a known gene +. (chr4:191009641 C/T) 4 191009641 C T Not on a known gene +. (chr4:191009653 A/G) 4 191009653 A G Not on a known gene +. (chr4:191009953 G/C) 4 191009953 G C Not on a known gene +. (chr4:191009968 G/C) 4 191009968 G C Not on a known gene +. (chr4:191010019 C/T) 4 191010019 C T Not on a known gene +. (chr4:191010020 G/A) 4 191010020 G A Not on a known gene +. (chr4:191010027 C/T) 4 191010027 C T Not on a known gene +. (chr4:191010064 C/T) 4 191010064 C T Not on a known gene +. (chr4:191010065 G/C) 4 191010065 G C Not on a known gene +. (chr4:191010074 C/T) 4 191010074 C T Not on a known gene +. (chr4:191010080 G/A) 4 191010080 G A Not on a known gene +. (chr4:191010213 C/T) 4 191010213 C T Not on a known gene +. (chr4:191010221 C/T) 4 191010221 C T Not on a known gene +. (chr4:191010228 C/T) 4 191010228 C T Not on a known gene +. (chr4:191010230 G/C) 4 191010230 G C Not on a known gene +. (chr4:191010345 C/A) 4 191010345 C A Not on a known gene +. (chr4:191011103 A/C) 4 191011103 A C Not on a known gene +. (chr4:191011133 C/G) 4 191011133 C G Not on a known gene +. (chr4:191012013 C/T) 4 191012013 C T Not on a known gene +. (chr4:191012017 G/A) 4 191012017 G A Not on a known gene +. (chr4:191012028 G/C) 4 191012028 G C Not on a known gene +. (chr4:191012044 G/A) 4 191012044 G A Not on a known gene +. (chr4:191012053 T/C) 4 191012053 T C Not on a known gene +. (chr4:191012081 T/G) 4 191012081 T G Not on a known gene +. (chr4:191012124 C/T) 4 191012124 C T Not on a known gene +. (chr4:191012132 C/T) 4 191012132 C T Not on a known gene +. (chr4:191012142 C/T) 4 191012142 C T Not on a known gene +. (chr4:191012154 A/C) 4 191012154 A C Not on a known gene +. (chr4:191012184 A/G) 4 191012184 A G Not on a known gene +. (chr4:191012190 C/T) 4 191012190 C T Not on a known gene +. (chr4:191012213 A/G) 4 191012213 A G Not on a known gene +. (chr4:191012217 C/T) 4 191012217 C T Not on a known gene +. (chr4:191012223 C/A) 4 191012223 C A Not on a known gene +. (chr4:191012242 C/T) 4 191012242 C T Not on a known gene +. (chr4:191012278 G/A) 4 191012278 G A Not on a known gene +. (chr4:191012285 G/A) 4 191012285 G A Not on a known gene +. (chr4:191012290 C/T) 4 191012290 C T Not on a known gene +. (chr4:191012297 C/T) 4 191012297 C T Not on a known gene +. (chr4:191012298 G/A) 4 191012298 G A Not on a known gene +. (chr4:191012310 C/T) 4 191012310 C T Not on a known gene +. (chr4:191012335 C/T) 4 191012335 C T Not on a known gene +. (chr4:191012336 G/A) 4 191012336 G A Not on a known gene +. (chr4:191012355 T/C) 4 191012355 T C Not on a known gene +. (chr4:191012376 C/T) 4 191012376 C T Not on a known gene +. (chr4:191012395 G/A) 4 191012395 G A Not on a known gene +. (chr4:191012434 C/A) 4 191012434 C A Not on a known gene +. (chr4:191012442 C/A) 4 191012442 C A Not on a known gene +. (chr4:191012617 G/C) 4 191012617 G C Not on a known gene +. (chr4:191012670 G/T) 4 191012670 G T Not on a known gene +. (chr4:191012711 C/T) 4 191012711 C T Not on a known gene +. (chr4:191012713 C/T) 4 191012713 C T Not on a known gene +. (chr4:191012722 C/T) 4 191012722 C T Not on a known gene +. (chr4:191012726 G/T) 4 191012726 G T Not on a known gene +. (chr4:191012727 C/T) 4 191012727 C T Not on a known gene +. (chr4:191012742 G/A) 4 191012742 G A Not on a known gene +. (chr4:191012750 C/T) 4 191012750 C T Not on a known gene +. (chr4:191012752 C/T) 4 191012752 C T Not on a known gene +. (chr4:191012780 C/T) 4 191012780 C T Not on a known gene +. (chr4:191012791 C/G) 4 191012791 C G Not on a known gene +. (chr4:191012794 C/T) 4 191012794 C T Not on a known gene +. (chr4:191012903 C/A) 4 191012903 C A Not on a known gene +. (chr4:191013327 C/T) 4 191013327 C T Not on a known gene +. (chr4:191013344 C/A) 4 191013344 C A Not on a known gene +. (chr4:191013347 G/A) 4 191013347 G A Not on a known gene +. (chr4:191013364 C/T) 4 191013364 C T Not on a known gene +. (chr4:191013374 C/T) 4 191013374 C T Not on a known gene +. (chr4:191013375 G/A) 4 191013375 G A Not on a known gene +. (chr4:191013380 G/A) 4 191013380 G A Not on a known gene +. (chr4:191013399 G/A) 4 191013399 G A Not on a known gene +rs111509457 (chr4:191013513 C/T) 4 191013513 C T Not on a known gene +. (chr4:191013528 C/T) 4 191013528 C T Not on a known gene +. (chr4:191013530 G/C) 4 191013530 G C Not on a known gene +. (chr4:191013678 G/A) 4 191013678 G A Not on a known gene +rs190870417 5 195299 G A - LRRC14B 37268 Leucine rich repeat containing 14B NM_001080478.2 1 2554 1545 NP_001073947.1 A6NHZ5 substitution missense exon GRCh37 195299 195299 Chr5(GRCh37):g.195299G>A 1376 1376 NM_001080478.2:c.1376G>A p.Arg459His p.Arg459His 2 477 3' 79.6103 X.94 0.457325 XII.99 79.6103 X.94 0.457325 XII.99 0 rs190870417 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000422 0.000125 0.000232 0.000000 0.000000 0.000000 0.000789 0.000117 0.000464 0.000789 117 3 8 0 0 0 100 3 3 277024 24028 34418 10152 18870 30782 126718 25594 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 3 8 0 0 0 100 3 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8547 4358 12905 1 0 1 0.000116986 0 7.74833e-05 0.000116986 0 7.74833e-05 119 COSM6458131 Upper aerodigestive tract 0.000804 1244 transition G A G>A 0.000 -0.198 R Arg CGT 0.082 H His CAT 0.413 459 12 6 Dog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 157.63 0.00 Tolerated 0.14 III.33 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . ENSG00000185028:ENST00000328278:exon2:c.G1376A:p.R459H LRRC14B:uc003jal.1:exon2:c.G1376A:p.R459H LRRC14B:NM_001080478:exon2:c.G1376A:p.R459H . . 0.424581 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.140 . @ . . . . . 1 0.153 . . 179.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R459H|LRRC14B|mRNA|CODING|NM_001080478|NM_001080478.ex.2) . 0.0001 0.0001 . 0.0001 0.0001 . -0.9368 -0.941 -0.937 c . . . . . 5.645e-04 . . . 0 0.0002 0.0002 0 0.0003 0.0003 0 6.06e-05 0 0.0006 0.0002 0 0.0002 0.0011 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.014 . . exonic exonic exonic . . 0.078 0.0002 . . . 0.11 0.38 182 ENSG00000185028 LRRC14B LRRC14B . . . 0.992 0.327 . 21 0.000323196 64976 20 0.000333411 59986 Uncertain_significance . 0 . 0.088 . . . . T 0.031 0.002 . . 37 . 0.014 . . 0.451 . . . 0.187 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.181 . . 0 0 0 0 0 0 . 0.126 . . 0.080 . . . . . . 0 0.133 . . . . . 0.396 . 0.037 . HET 0.38 rs190870417 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 IX.97 0.0 ENST00000328278 V.41 -1.66 . 0.320000 A6NHZ5 . . . 0.000077 . 0.095 . . . 6.535e-05 0.0005 0.0002 0 0 0.0001 0.0009 0.0004 0 0.0002 0.0001 0.0012 0 0 0 0 0.0010 . . 0.283 . -0.195 -0.195000 . . 0.320000 . . 1.0E-255 0.197 0.241 . 0.126 0.028 . 0.249 . 0.713 -0.195 -0.436 0.0028 . . rs190870417 rs190870417 1 1538 10 1/0 0,230,255 +rs140736646 5 223666 G A - SDHA 10680 Succinate dehydrogenase complex flavoprotein subunit A NM_004168.3 1 2790 1995 NP_004159.2 P31040 substitution missense exon GRCh37 223666 223666 Chr5(GRCh37):g.223666G>A 133 133 NM_004168.3:c.133G>A p.Ala45Thr p.Ala45Thr 2 600857 -18 5' 73.6467 X.74 0.988796 4.49666 73.6467 X.74 0.988796 3.88479 0 rs140736646 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000408 0.000083 0.000232 0.000000 0.000000 0.000000 0.000767 0.000116 0.000464 0.000767 113 2 8 0 0 0 97 3 3 276942 24038 34420 10152 18870 30782 126426 25792 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 113 2 8 0 0 0 97 3 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 95 RCV000210508.3|RCV000347454.1|RCV000410936.1|RCV000401643.1|RCV000308179.1 germline|germline|unknown|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing VUS|VUS|VUS|VUS|VUS 1|1|1|1|1 |Pheochromocytoma|Paragangliomas 5|Mitochondrial complex II deficiency|Leigh syndrome CM176210 Paraganglioma DM? COSM6458132 Upper aerodigestive tract 0.000804 1244 transition G A G>A 1.000 3.757 A Ala GCT 0.263 T Thr ACT 0.243 45 13 11 Baker's yeast 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 197.75 0.00 Tolerated 0.12 III.79 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . . . . . . 0.5641026 . . germline 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.472 . Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000210508.2|RCV000210508.2|RCV000308179.1|RCV000347454.1|RCV000401643.1|RCV000410936.1 Mitochondrial_complex_II_deficiency|Paragangliomas_5|Leigh_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Paragangliomas_5 MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet|MedGen:OMIM C1855008:252011:ORPHA3208|C3279992:614165|C0023264:256000:ORPHA506:29570005|C0031511:171300|C1855008:252011:ORPHA3208|C3279992:614165 1 0.713 . . 39.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.0639 0.223 0.064 c . . . . . 5.525e-04 . . . 0 0.0002 0.0002 0 0.0003 0.0002 0 6.06e-05 0 0.0006 0.0002 0 0.0002 0.0011 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.734 . . exonic exonic exonic . . 0.924 0.0002 . . . 0.34 0.35 182 ENSG00000073578 SDHA SDHA . . . 1.000 0.747 . 12 0.000184684 64976 11 0.000183376 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.383 0.017 . . 37 . 0.730 . . 0.680 . . . 0.453 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.324 . . 0 0 0 0 0 0 . 0.144 . . 0.139 . . . . . . 0 0.351 . . . . . 0.878 . 0.634 . HET 0 rs140736646 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 17.5782 0.0 . V.81 V.81 . 0.120000 . . . . 0.000077 . 0.381 . . V.81 0 0.0004 0.0002 0 0 0.0001 0.0009 0.0004 0 0.0002 0.0001 0.0012 0 0 0 0 0.0010 . . 0.924 . 2.751 2.751000 . . 0.120000 . . 1.0E-255 1.000 0.715 . 0.653 0.917 . 0.479 . 0.663 2.751 0.897 0.0028 . . rs140736646 rs140736646 1 1538 10 1/0 0,255,255 +. 5 256434 ACT A - SDHA 10680 Succinate dehydrogenase complex flavoprotein subunit A NM_004168.3 1 2790 1995 NP_004159.2 P31040 deletion intron GRCh37 256437 256438 Chr5(GRCh37):g.256437_256438del 1909-12 1909-11 NM_004168.3:c.1909-12_1909-11del p.? p.? 15 14 600857 -11 3' 86.0759 8.91482 0.925821 XI.33 83.0169 IX.06 0.862862 X.06 -0.0122374 rs372662724 yes no Frequency 1 0.000000 0 0.000117 0.000345 0.000088 0.000099 0.000054 0.000000 0.000088 0.000275 0.000157 0.000345 32 8 3 1 1 0 11 7 1 273754 23198 34216 10124 18598 30768 125022 25468 6360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 8 3 1 1 0 11 7 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes RCV000483037.1|RCV000394391.1|RCV000492532.1|RCV000337728.1|RCV000281629.1 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Likely benign|VUS|Likely benign|VUS|VUS 1|1|1|1|1 not specified|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Leigh syndrome|Mitochondrial complex II deficiency CT 255 Pass . . . . . . . . . . . . . . . . 0.26890758 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000281629.1|RCV000337728.1|RCV000394391.1 Mitochondrial_complex_II_deficiency|Leigh_syndrome|Pheochromocytoma MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM C1855008:252011:ORPHA3208|C0023264:256000:ORPHA506:29570005|C0031511:171300 2 . . . 119 . . . . . . . . . . . . . . . . . . . 2.368e-05 . . . 0 1.105e-05 0 0 0 2.374e-05 0 0 0 9.44e-06 0 0 0 1.84e-05 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000073578 SDHA SDHA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372662724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0010 0.0011 0.0041 0.0036 0.0007 0.0022 0.0008 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372662724 rs372662724 1 1538 10 1.I 0,10,57 +. 5 304349 AGACG A - AHRR 346 Aryl-hydrocarbon receptor repressor NM_020731.4 1 5661 2160 NP_065782.2 deletion intron GRCh37 304353 304356 Chr5(GRCh37):g.304353_304356del 2+17 2+20 NM_020731.4:c.2+17_2+20del p.? p.? 1 1 606517 17 5' 83.257 6.69345 0.94081 3.31044 83.257 6.69345 0.94081 3.01331 0 rs542638819 yes no Frequency 1 0.000000 0 0.002044 0.007174 0.000723 0.001062 0.000120 0.001939 0.001771 0.002695 0.002041 0.007174 422 116 17 6 2 35 175 61 10 206450 16170 23512 5650 16698 18054 98830 22636 4900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 422 116 17 6 2 35 175 61 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes GGAC 255 Pass . . . . . . . . . . . . . . . . 0.37777779 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . . 0.011 0.0096 0.009 . . . . . . . . . . . . . 2.314e-03 . . . 0.0110 0.0039 0.0008 0.0004 0.0031 0.0042 0.0065 0.0045 0.0106 0.0029 0.0009 0.0002 0.0020 0.0026 0.0049 0.0045 . . . . . . intronic intronic intronic . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs542638819 . . . . . . . . . . . . . . . . . . . . . . . 0.009598 . . . . . 0.0060 0.0012 0.0004 0.0006 0 0.0004 0.0012 0.0013 0.0019 0.0088 0.0074 0.0087 0.0117 0.0012 0.0161 0.0054 0.0054 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1.I 0,12,42 +. 5 304349 AGACG A - PDCD6 8765 Programmed cell death 6 NM_013232.3 1 1135 576 NP_037364.1 O75340 deletion intron GRCh37 304353 304356 Chr5(GRCh37):g.304353_304356del 208+17 208+20 NM_013232.3:c.208+17_208+20del p.? p.? 3 3 601057 17 5' 83.257 6.69345 0.94081 3.31044 83.257 6.69345 0.94081 3.01331 0 rs542638819 yes no Frequency 1 0.000000 0 0.002044 0.007174 0.000723 0.001062 0.000120 0.001939 0.001771 0.002695 0.002041 0.007174 422 116 17 6 2 35 175 61 10 206450 16170 23512 5650 16698 18054 98830 22636 4900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 422 116 17 6 2 35 175 61 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes GGAC 255 Pass . . . . . . . . . . . . . . . . 0.37777779 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . . 0.011 0.0096 0.009 . . . . . . . . . . . . . 2.314e-03 . . . 0.0110 0.0039 0.0008 0.0004 0.0031 0.0042 0.0065 0.0045 0.0106 0.0029 0.0009 0.0002 0.0020 0.0026 0.0049 0.0045 . . . . . . intronic intronic intronic . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs542638819 . . . . . . . . . . . . . . . . . . . . . . . 0.009598 . . . . . 0.0060 0.0012 0.0004 0.0006 0 0.0004 0.0012 0.0013 0.0019 0.0088 0.0074 0.0087 0.0117 0.0012 0.0161 0.0054 0.0054 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1.I 0,12,42 +. 5 712078 G C - ZDHHC11B 32962 Zinc finger DHHC-type containing 11B NM_001351303.1 -1 3051 1116 NP_001338232.1 P0C7U3 substitution 3'UTR GRCh37 712078 712078 Chr5(GRCh37):g.712078G>C *327 *327 NM_001351303.1:c.*327C>G p.? p.? 11 320 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 transversion C G C>G 0.795 0.690 252 PASS . . . . . . . . . . . . . . . . 0.31092438 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic intergenic . . . @ . . . . . . ENSG00000206077 . . ENST00000508859:c.*327C>G dist\x3d18568\x3bdist\x3d83642 dist\x3d18568\x3bdist\x3d83642 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs200316029 5 795940 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795940 795940 Chr5(GRCh37):g.795940G>A *763 *763 NM_024786.2:c.*763C>T p.? p.? 13 756 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs200316029 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.016 1.093 212 PASS . . . . . . . . . . . . . . . . 0.18987341 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 237.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.3385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.46 0.62 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*763C>T uc011cma.1:c.*763C>T NM_024786:c.*763C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200316029 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . 0.011 . . rs200316029 rs200316029 1 1538 10 1/0 0,197,255 +rs201303001 5 795954 C G - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795954 795954 Chr5(GRCh37):g.795954C>G *749 *749 NM_024786.2:c.*749G>C p.? p.? 13 742 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs201303001 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.008 0.044 229 PASS . . . . . . . . . . . . . . . . 0.23904383 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.086 . @ . . . . . 2 0.034 . . 251.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.6404 -0.876 -0.640 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.132 @ . . . 0.41 0.63 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*749G>C uc011cma.1:c.*749G>C NM_024786:c.*749G>C 0.000 0.050 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.359 . . 0.361 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.116 . . . HET 0.09 rs201303001 0.043 0.029 . . . . . . . . . . IV.59 . ENST00000436502 1.VII -0.0282 . 0.040000 . . . . . . 0.101 . . . . . . . . . . . . . . . . . . . . . . 0.037 . 0.423 0.423000 . . 0.040000 . . 1.0E-229 0.000 0.063 . 0.062 0.424 . 0.110 . 0.260 0.423 -0.226 0.043 . . rs201303001 rs201303001 1 1538 10 1/0 0,199,255 +rs1057009 5 795961 A G - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795961 795961 Chr5(GRCh37):g.795961A>G *742 *742 NM_024786.2:c.*742T>C p.? p.? 13 735 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs1057009 yes no Frequency 1 G 0.000000 0 0.000803 0.000507 0.000000 0.000000 0.000000 0.000000 0.000989 0.001756 0.000000 0.001756 17 3 0 0 0 0 10 4 0 21170 5918 630 206 1358 0 10114 2278 666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 3 0 0 0 0 10 4 0 0 0 0 0 0 0 0 0 0 RF 70 Genomes transition T C T>C 0.008 1.174 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.091 . @ . . . . . 2 0.031 . . 237.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.4887 0.031 -0.489 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.127 @ . . . 0.4 0.64 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*742T>C uc011cma.1:c.*742T>C NM_024786:c.*742T>C 0.000 0.062 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.182 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.175 . . . HET . rs1057009 0.098 0.065 . . . . . . . . . . . . . . . . . . . . . . . 0.011 . . . . . . . . . . . . 0.0005 0.0008 0 0 0 0.0018 0.0010 0 . . 0.037 . . . . . . . . 1.0E-255 0.000 0.063 . 0.016 0.482 . 0.008 . 0.004 . -0.168 0.098 rs1057009 rs1057009 rs1057009 rs1057009 1 1538 10 1/0 0,217,250 +rs72503655 5 795968 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795968 795968 Chr5(GRCh37):g.795968C>T *735 *735 NM_024786.2:c.*735G>A p.? p.? 13 728 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 New Acceptor Site 795966 1.1243 0.002506 63.1592 rs72503655 yes no Frequency 1 C 0.000000 0 0.000049 0.000233 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000233 1 1 0 0 0 0 0 0 0 20234 4290 456 202 782 0 11128 2668 708 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 72 Genomes transition G A G>A 0.240 2.546 255 PASS . . . . . . . . . . . . . . . . 0.31558937 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.119 . @ . . . . . 2 0.087 . . 263.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.8416 -1.038 -0.842 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.193 @ . . . 0.4 0.64 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*735G>A uc011cma.1:c.*735G>A NM_024786:c.*735G>A 0.009 0.118 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.530 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.294 . . . HET 0.72 rs72503655 0.076 0.051 . . . . . . . . . . 8.0127 . ENST00000436502 1.VII 1.VII . 1.000000 . . . . . . 0.095 . . . . . . . . . . . . 0.0002 4.942e-05 0 0 0 0 0 0 . . 0.037 . 0.423 0.423000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.074 0.425 . 0.122 . 0.029 0.423 0.567 0.076 . rs72503655 rs72503655 rs72503655 1 1538 10 1/0 0,211,250 +rs447313 5 795975 G C - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795975 795975 Chr5(GRCh37):g.795975G>C *728 *728 NM_024786.2:c.*728C>G p.? p.? 13 721 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs447313 yes no Frequency/1000G 2 C 0.000000 0 0.000564 0.000151 0.000000 0.000000 0.000000 0.000000 0.000918 0.000899 0.000000 0.000918 12 1 0 0 0 0 9 2 0 21294 6608 628 192 1194 0 9804 2224 644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 1 0 0 0 0 9 2 0 0 0 0 0 0 0 0 0 0 RF 64 Genomes transversion C G C>G 0.390 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.3670412 . . @ 98 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 267.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -1.1354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.5 0.61 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*728C>G uc011cma.1:c.*728C>G NM_024786:c.*728C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.49 rs447313 0.098 0.065 . . . . . . . . . . II.79 . ENST00000436502 1.VII -0.0282 . 1.000000 . . . . . . . . . . . . . . . . . . . 0.0002 0.0006 0 0 0 0.0009 0.0009 0 . . . . -0.479 -0.479000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.479 . 0.098 rs447313 rs447313 rs447313 rs447313 1 1538 10 1/0 0,214,241 +. 5 795984 GAA G - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 deletion 3'UTR GRCh37 795985 795986 Chr5(GRCh37):g.795985_795986del *717 *718 NM_024786.2:c.*717_*718del p.? p.? 13 710 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs35267903 yes no Frequency/1000G 2 0.000000 0 0.000400 0.001067 0.000000 0.000000 0.000000 0.000000 0.000352 0.000000 0.000000 0.001067 8 4 0 0 0 0 4 0 0 20020 3750 490 232 762 0 11348 2722 716 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 70 Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.228 . . . 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 250 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*718_*717delTT uc011cma.1:c.*718_*717delTT NM_024786:c.*718_*717delTT . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35267903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0004 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35267903 rs35267903 rs35267903 rs35267903 1 1538 10 1.I 0,8,64 +rs879033328 5 795991 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795991 795991 Chr5(GRCh37):g.795991C>T *712 *712 NM_024786.2:c.*712G>A p.? p.? 13 705 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs879033328 no no 0 C 0.000000 0 0.000350 0.001328 0.000000 0.000000 0.000000 0.000000 0.000176 0.000000 0.000000 0.001328 7 5 0 0 0 0 2 0 0 20006 3766 480 234 790 0 11336 2708 692 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 5 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 71 Genomes transition G A G>A 0.024 2.546 199 PASS . . . . . . . . . . . . . . . . 0.17760618 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 259.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.1435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*712G>A uc011cma.1:c.*712G>A NM_024786:c.*712G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,192,255 +rs1057005 5 795992 C A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795992 795992 Chr5(GRCh37):g.795992C>A *711 *711 NM_024786.2:c.*711G>T p.? p.? 13 704 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs1057005 no no 0 A 0.000000 0 0.000433 0.001111 0.000000 0.000000 0.000000 0.000000 0.000255 0.000000 0.000000 0.001111 7 5 0 0 0 0 2 0 0 16170 4500 480 176 1172 0 7858 1496 488 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 5 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 88 Genomes transversion G T G>T 0.000 -3.346 221 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.052 . @ . . . . . 2 0.011 . . 266.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -1.9667 -2.212 -1.967 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.067 @ . . . 0.36 0.63 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*711G>T uc011cma.1:c.*711G>T NM_024786:c.*711G>T 0.303 0.192 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.215 . . 0.131 . . . . 0.199 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.001 . . . HET 0.31 rs1057005 . . . . . . . . . . . . 0.1197 . ENST00000436502 1.VII -2.15 . 0.220000 . . . . . . 0.013 . . . . . . . . . . . . 0.0011 0.0004 0 0 0 0 0.0003 0 . . 0.037 . -3.162 -3.162000 . . 0.220000 . . 1.0E-221 0.000 0.063 . 0.016 0.006 . 0.001 . 0.001 -3.162 -3.190 . rs1057005 rs1057005 rs1057005 rs1057005 1 1538 10 1/0 0,194,255 +rs1057004 5 796008 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796008 796008 Chr5(GRCh37):g.796008G>A *695 *695 NM_024786.2:c.*695C>T p.? p.? 13 688 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs1057004 yes no Frequency 1 G 0.000000 0 0.000307 0.000851 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000851 3 3 0 0 0 0 0 0 0 9766 3526 334 94 810 0 3962 772 268 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 149 Genomes transition C T C>T 0.016 -2.297 200 PASS . . . . . . . . . . . . . . . . 0.16722408 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.042 . @ . . . . . 2 0.022 . . 299.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -1.7121 -1.933 -1.712 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.069 @ . . . 0.37 0.59 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*695C>T uc011cma.1:c.*695C>T NM_024786:c.*695C>T 0.006 0.111 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.099 . . 0.239 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.015 . . . HET 0.35 rs1057004 . . . . . . . . . . . . 1.0461 . ENST00000436502 1.II -2.03 . 0.890000 . . . . . . 0.015 . . . . . . . . . . . . 0.0009 0.0003 0 0 0 0 0 0 . . 0.037 . -2.248 -2.248000 . . 0.890000 . . 1.0E-200 0.000 0.063 . 0.016 0.040 . 0.002 . 0.000 -2.248 -0.617 . . . rs1057004 rs1057004 1 1538 10 1/0 0,191,255 +rs201657519 5 796009 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796009 796009 Chr5(GRCh37):g.796009G>A *694 *694 NM_024786.2:c.*694C>T p.? p.? 13 687 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs201657519 yes no Frequency 1 G 0.000000 0 0.000227 0.000561 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000561 3 3 0 0 0 0 0 0 0 13196 5348 388 128 1046 0 5032 902 352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 109 Genomes transition C T C>T 0.039 -0.440 200 PASS . . . . . . . . . . . . . . . . 0.15719064 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 299.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.3801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.38 0.59 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*694C>T uc011cma.1:c.*694C>T NM_024786:c.*694C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201657519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs201657519 rs201657519 1 1538 10 1/0 0,185,255 +rs199505907 5 796015 A C - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796015 796015 Chr5(GRCh37):g.796015A>C *688 *688 NM_024786.2:c.*688T>G p.? p.? 13 681 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs199505907 yes no Frequency 1 A 0.000000 0 0.000200 0.000670 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 0.000000 0.000670 5 4 0 0 0 0 1 0 0 25048 5968 738 262 1380 0 12766 3104 830 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 58 Genomes transversion T G T>G 0.240 -0.037 201 PASS . . . . . . . . . . . . . . . . 0.16065574 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.072 . @ . . . . . 2 0.041 . . 305.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.6106 -0.824 -0.611 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.193 @ . . . 0.5 0.73 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*688T>G NM_024786:c.*688T>G 0.000 0.052 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.516 . . 0.475 . . . . 0.422 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.068 . . . HET 0.35 rs199505907 0.011 0.007 . . . . . . . . . . III.74 . ENST00000436502 1.VII 1.VII . 0.130000 . . . . . . 0.125 . . . . . . . . . . . . 0.0007 0.0002 0 0 0 0 7.833e-05 0 . . 0.037 . 0.358 0.358000 . . 0.130000 . . 1.0E-201 0.000 0.063 . 0.062 0.070 . 0.033 . 0.037 0.358 0.679 0.011 . . rs199505907 rs199505907 1 1538 10 1/0 0,184,255 +. 5 796029 T TGG - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 insertion 3'UTR GRCh37 796029 796030 Chr5(GRCh37):g.796029_796030insGG *673 *674 NM_024786.2:c.*673_*674insCC p.? p.? 13 666 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs34375069 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000669 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000669 4 4 0 0 0 0 0 0 0 19976 5976 502 206 816 0 9582 2284 610 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 75 Genomes CC 255 Pass . . . . . . . . . . . . . . . . 0.16413374 . . . 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 329 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*673_*674insCC NM_024786:c.*673_*674insCC . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34375069 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs34375069 rs34375069 1 1538 10 1.I 0,6,78 +rs144777213 5 796041 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796041 796041 Chr5(GRCh37):g.796041C>T *662 *662 NM_024786.2:c.*662G>A p.? p.? 13 655 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs144777213 no no 0 C 0.000000 0 0.001805 0.001861 0.002825 0.000000 0.002155 0.000000 0.001670 0.000977 0.003521 0.002825 21 10 1 0 2 0 6 1 1 11632 5374 354 76 928 0 3592 1024 284 0.047619 0.100000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 19 8 1 0 2 0 6 1 1 0 0 0 0 0 0 0 0 0 RF 128 Genomes transition G A G>A 0.000 -0.360 187 PASS . . . . . . . . . . . . . . . . 0.1469534 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.091 . @ . . . . . 2 0.026 . . 279.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.3273 0.066 -0.327 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.108 @ . . . 0.46 0.73 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*662G>A NM_024786:c.*662G>A 0.000 0.052 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.198 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.114 . . . LowAF . rs144777213 0.087 0.094 . . . . . . . . . . . . . . . . . . . . . . . 0.031 . . . . . . . . . . . . 0.0019 0.0018 0.0028 0 0.0022 0.0010 0.0017 0.0035 . . 0.023 . . . . . . . . 1.0E-187 0.000 0.063 . 0.090 0.022 . 0.086 . 0.266 . 0.567 0.087 . . rs144777213 rs144777213 1 1538 10 1/0 0,187,255 +rs62330166 5 796051 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796051 796051 Chr5(GRCh37):g.796051G>A *652 *652 NM_024786.2:c.*652C>T p.? p.? 13 645 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs62330166 no no 0 G 0.000000 0 0.001716 0.001236 0.002604 0.000000 0.001988 0.000000 0.002237 0.000984 0.006849 0.002604 22 8 1 0 2 0 8 1 2 12820 6472 384 74 1006 0 3576 1016 292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 8 1 0 2 0 8 1 2 0 0 0 0 0 0 0 0 0 RF 114 Genomes transition C T C>T 0.016 1.093 182 PASS . . . . . . . . . . . . . . . . 0.116883114 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.077 . @ . . . . . 2 0.019 . . 308.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.3390 0.064 -0.339 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.108 @ . . . 0.49 0.68 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*652C>T NM_024786:c.*652C>T 0.000 0.061 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.182 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.169 . . . LowAF . rs62330166 0.098 0.130 . . . . . . . . . . . . . . . . . . . . . . . 0.059 . . . . . . . . . . . . 0.0012 0.0017 0.0026 0 0.0020 0.0010 0.0022 0.0068 . . 0.016 . . . . . . . . 1.0E-182 0.000 0.063 . 0.111 0.056 . 0.020 . 0.267 . 0.589 0.098 rs62330166 rs62330166 rs62330166 rs62330166 1 1538 10 1/0 0,179,255 +. 5 796053 GCT G - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 deletion 3'UTR GRCh37 796054 796055 Chr5(GRCh37):g.796054_796055del *648 *649 NM_024786.2:c.*648_*649del p.? p.? 13 641 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs370809767 no no 0 0.000000 0 0.001713 0.001059 0.002660 0.000000 0.001984 0.000000 0.002588 0.000994 0.006944 0.002660 22 7 1 0 2 0 9 1 2 12840 6608 376 76 1008 0 3478 1006 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 7 1 0 2 0 9 1 2 0 0 0 0 0 0 0 0 0 RF 113 Genomes AG 255 Pass . . . . . . . . . . . . . . . . 0.13087249 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 298 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*649_*648delAG NM_024786:c.*649_*648delAG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs370809767 0.098 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0017 0.0027 0 0.0020 0.0010 0.0026 0.0069 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 . . rs370809767 rs370809767 1 1538 10 1.I 0,5,88 +rs62330167 5 796064 T C - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796064 796064 Chr5(GRCh37):g.796064T>C *639 *639 NM_024786.2:c.*639A>G p.? p.? 13 632 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs62330167 yes no Frequency/1000G 2 C 0.000000 0 0.001305 0.001050 0.001832 0.000000 0.002387 0.000000 0.001605 0.000361 0.001393 0.002387 30 7 1 0 2 0 18 1 1 22982 6664 546 234 838 0 11214 2768 718 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 4 1 0 2 0 14 1 0 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition A G A>G 0.193 -1.247 190 PASS . . . . . . . . . . . . . . . . 0.1335505 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.045 . @ . . . . . 2 0.024 . . 307.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.5317 0.036 -0.532 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.067 @ . . . 0.52 0.72 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*639A>G NM_024786:c.*639A>G 0.000 0.071 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.230 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.158 . . . LowAF . rs62330167 0.120 0.145 . . . . . . . . . . . . . . . . . . . . . . . 0.027 . . . . . . . . . . . . 0.0011 0.0013 0.0018 0 0.0024 0.0004 0.0016 0.0014 . . 0.023 . . . . . . . . 1.0E-190 0.000 0.063 . 0.062 0.007 . 0.010 . 0.012 . -1.111 0.12 rs62330167 rs62330167 rs62330167 rs62330167 1 1538 10 1/0 0,181,255 +rs201375117 5 796144 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796144 796144 Chr5(GRCh37):g.796144C>T *559 *559 NM_024786.2:c.*559G>A p.? p.? 13 552 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs201375117 yes no Frequency 1 C 0.000000 0 0.000633 0.000484 0.000000 0.000000 0.000000 0.000000 0.000575 0.002342 0.000000 0.002342 6 1 0 0 0 0 3 2 0 9480 2066 266 158 574 0 5220 854 342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 RF 182 Genomes transition G A G>A 0.000 -1.247 183 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 294.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.5818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.52 0.8 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*559G>A NM_024786:c.*559G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201375117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0 0 0 0.0023 0.0006 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs201375117 rs201375117 1 1538 10 1/0 0,181,255 +rs71587128 5 796152 T C - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796152 796152 Chr5(GRCh37):g.796152T>C *551 *551 NM_024786.2:c.*551A>G p.? p.? 13 544 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs71587128 yes no Frequency 1 T 0.000000 0 0.000204 0.000495 0.000000 0.000000 0.000000 0.000000 0.000181 0.000000 0.000000 0.000495 2 1 0 0 0 0 1 0 0 9780 2020 262 160 596 0 5514 864 364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 183 Genomes transition A G A>G 0.031 0.690 176 PASS . . . . . . . . . . . . . . . . 0.10404624 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.064 . @ . . . . . 2 0.066 . . 346.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -1.0719 -1.310 -1.072 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.084 @ . . . 0.55 0.76 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*551A>G NM_024786:c.*551A>G 0.000 0.057 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.222 . . 0.283 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.118 . . . LowAF 0.31 rs71587128 . . . . . . . . . . . . IV.42 . ENST00000436502 1.VII -1.42 . 0.360000 . . . . . . 0.046 . . . . . . . . . . . . 0.0005 0.0002 0 0 0 0 0.0002 0 . . 0.037 . -0.505 -0.505000 . . 0.360000 . . 1.0E-176 0.000 0.063 . 0.016 0.025 . 0.008 . 0.001 -0.505 0.643 . . . rs71587128 rs71587128 1 1538 10 1/0 0,173,255 +rs202009112 5 796156 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796156 796156 Chr5(GRCh37):g.796156G>A *547 *547 NM_024786.2:c.*547C>T p.? p.? 13 540 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs202009112 yes no Frequency 1 G 0.000000 0 0.000210 0.000514 0.000000 0.000000 0.000000 0.000000 0.000186 0.000000 0.000000 0.000514 2 1 0 0 0 0 1 0 0 9512 1946 264 160 586 0 5362 834 360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 190 Genomes transition C T C>T 0.008 2.546 175 PASS . . . . . . . . . . . . . . . . 0.10364146 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 357.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.1366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.56 0.77 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*547C>T NM_024786:c.*547C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs202009112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs202009112 rs202009112 1 1538 10 1/0 0,171,255 +rs200976854 5 796165 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796165 796165 Chr5(GRCh37):g.796165C>T *538 *538 NM_024786.2:c.*538G>A p.? p.? 13 531 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs200976854 yes no Frequency 1 C 0.000000 0 0.004958 0.004249 0.000000 0.000000 0.000000 0.000000 0.005857 0.005571 0.006211 0.005857 39 6 0 0 0 0 27 4 2 7866 1412 236 142 426 0 4610 718 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 6 0 0 0 0 27 4 2 0 0 0 0 0 0 0 0 0 RF 236 Genomes transition G A G>A 0.000 -1.328 211 PASS . . . . . . . . . . . . . . . . 0.18709677 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 310.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.6038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.45 0.78 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*538G>A NM_024786:c.*538G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200976854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0042 0.0050 0 0 0 0.0056 0.0059 0.0062 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . rs200976854 rs200976854 1 1538 10 1/0 0,185,255 +rs74389817 5 1081230 A G - SLC12A7 10915 Solute carrier family 12 (potassium/chloride transporters), member 7 NM_006598.2 -1 5304 3252 NP_006589.2 Q9Y666 substitution intron GRCh37 1081230 1081230 Chr5(GRCh37):g.1081230A>G 1297+462 1297+462 NM_006598.2:c.1297+462T>C p.? p.? 9 9 604879 462 5' 80.9448 8.68617 0.985538 X.13 80.9448 8.68617 0.985538 X.13 0 rs74389817 no no 0 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30732 8608 834 302 1616 0 14910 3488 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition T C T>C 0.000 -0.279 111 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||SLC12A7|mRNA|CODING|NM_006598|) . . . . . . . -0.4015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.13 0.01 182 ENSG00000113504 SLC12A7 SLC12A7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74389817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.254e-05 0 0 0 0 6.707e-05 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs74389817 rs74389817 1 1538 10 1.I 70,1,0 +rs374958460 5 1574476 G A - SDHAP3 18781 Succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 NR_003263.2 -1 1153 0 substitution intron GRCh37 1574476 1574476 Chr5(GRCh37):g.1574476G>A 710-66 710-66 NR_003263.2:n.710-66C>T p.? p.? 6 5 -66 3' 85.8859 8.32753 0.894992 4.73672 85.8859 8.32753 0.894992 4.74804 0 rs374958460 no no 0 A 0.000000 0 0.008197 0.025911 0.008499 0.007576 0.000000 0.000000 0.003637 0.001231 0.006928 0.025911 213 145 6 2 0 0 50 4 6 25986 5596 706 264 1558 0 13746 3250 866 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 213 145 6 2 0 0 50 4 6 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.732 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.10714286 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||SDHAP3|Non-coding_transcript|NON_CODING|NR_003263|) . . . . . . . -0.6562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.26 0.02 182 ENSG00000185986 SDHAP3 SDHAP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs374958460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0259 0.0082 0.0085 0.0076 0 0.0012 0.0036 0.0069 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs387134 rs387134 rs387134 rs374958460 1 1538 10 1/0 0,251,255 +rs113180271 5 6751208 G A - PAPD7 16705 PAP associated domain containing 7 NM_006999.4 1 3861 1629 NP_008930.1 substitution synonymous exon GRCh37 6751208 6751208 Chr5(GRCh37):g.6751208G>A 1167 1167 NM_006999.4:c.1167G>A p.Ala389= p.Ala389Ala 11 605198 57 3' 66.0007 4.88017 0.015681 0 66.0007 4.88017 0.015681 0 0 rs113180271 yes no Frequency/1000G 2 G 0.000000 0 0.005591 0.000000 0.007200 0.002000 0.011900 0.010100 0.007857 0.001582 0.003690 0.018223 0.001113 0.007797 0.009415 0.012678 0.007269 0.018223 2178 38 127 185 21 240 1193 327 47 277222 24024 34420 10152 18870 30782 126716 25792 6466 0.000130 0.000000 0.000000 0.000000 0.000000 0.000520 0.000110 0.000233 0.000000 18 0 0 0 0 8 7 3 0 2142 38 127 185 21 224 1179 321 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8521 4398 12919 79 8 87 0.00918605 0.00181571 0.00668922 0.00918605 0.00181571 0.00668922 133 transition G A G>A 0.016 -3.426 A Ala GCG 0.107 A Ala GCA 0.226 389 255 PASS . 0.01 0.01 0.0017 0.01 . 0.0056 0.01 0.002 0.012 0.0072 ENSG00000112941:ENST00000230859:exon11:c.G1167A:p.A389A . . . . 0.45081967 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . 0.0018 0.0067 0.0092 0.0018 0.0067 0.0092 . -0.4612 . . . . . . . . 7.766e-03 . . . 0.0016 0.0071 0.0036 0.0009 0.0124 0.0096 0.0042 0.0077 0.0014 0.0076 0.0033 0.0013 0.0119 0.0099 0.0072 0.0079 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0056 . . . 0.25 0.18 182 ENSG00000112941 PAPD7 PAPD7 . . . . . . 609 0.00937269 64976 582 0.00970226 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113180271 . . . . . . . . . . . . . . . . . . . . . . . 0.006689 . . . . . 0.0016 0.0081 0.0038 0.0184 0.0012 0.0128 0.0097 0.0077 0.0078 0.0016 0.0056 0.0012 0.0132 0.0006 0.0117 0.0072 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs113180271 rs113180271 1 1538 10 1/0 0,249,255 +rs115387436 5 7885794 T C - MTRR 7473 5-methyltetrahydrofolate-homocysteine methyltransferase reductase NM_024010.2 1 3274 2178 NP_076915.2 Q9UBK8 substitution intron GRCh37 7885794 7885794 Chr5(GRCh37):g.7885794T>C 985-20 985-20 NM_024010.2:c.985-20T>C p.? p.? 7 6 602568 -20 3' 79.4601 7.82435 0.903786 5.88173 79.4601 7.66642 0.855427 5.53206 -0.0245635 7885796 -24.7594 rs115387436 yes no Frequency/1000G 2 T 0.000000 0 0.000129 0.000086 0.000061 0.000208 0.000000 0.000035 0.000209 0.000081 0.000000 0.000209 34 2 2 2 0 1 25 2 0 263070 23208 32934 9616 18380 28706 119622 24566 6038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 0 0 0 0 8 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.102 0.690 175 PASS 0.07 0.05 0.04 . 0.07 . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . 0.3142 . . . . . . . . 8.683e-05 . . . 0 4.47e-05 0 0 0 9.654e-05 0 0 0 4.77e-05 0 0 0 9.348e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.04 182 ENSG00000124275 MTRR MTRR . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs115387436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.II 0.0001 0.0001 6.228e-05 0.0002 0 0 0.0002 0 3.484e-05 0 0.0002 0 0 0 0.0007 0.0004 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.07 . . rs115387436 rs115387436 1 1538 10 1/0 0,255,255 +rs6555597 5 9280957 C A - SEMA5A 10736 Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A NM_003966.2 -1 11808 3225 NP_003957.2 Q13591 substitution intron GRCh37 9280957 9280957 Chr5(GRCh37):g.9280957C>A 270+37527 270+37527 NM_003966.2:c.270+37527G>T p.? p.? 5 5 609297 37527 5' 89.9194 X.02 0.991756 I.77 89.9194 X.02 0.991756 I.77 0 rs6555597 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999985 0.999928 1.000000 1.000000 1.000000 1.000000 0.999982 1.000000 1.000000 1.000000 136428 13933 18928 7168 10166 18764 55215 8286 3968 136430 13934 18928 7168 10166 18764 55216 8286 3968 0.999971 0.999856 1.000000 1.000000 1.000000 1.000000 0.999964 1.000000 1.000000 68213 6966 9464 3584 5083 9382 27607 4143 1984 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 -0.521 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||SEMA5A|mRNA|CODING|NM_003966|) . . . . . . . -0.3078 . . . . . . . . 1.000 . . . 1 1 1 1 . 1 1 1 1 1 1 1 . 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.31 0.19 182 ENSG00000112902 SEMA5A SEMA5A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs6555597 0.978 0.986 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs6555597 rs6555597 rs6555597 rs6555597 1 1538 255 1.I 0,0,255 +. 5 10263451 TGGAG T - CCT5 1618 Chaperonin containing TCP1, subunit 5 (epsilon) NM_012073.4 1 3675 1626 NP_036205.1 P48643 deletion intron GRCh37 10263454 10263457 Chr5(GRCh37):g.10263454_10263457del 1498+28 1498+31 NM_012073.4:c.1498+28_1498+31del p.? p.? 10 10 610150 28 5' 81.8011 7.61415 0.98266 5.30055 81.8011 7.61415 0.98266 5.36855 0 rs200292677 yes no Frequency 1 0.000000 0 0.000407 0.001963 0.000154 0.000000 0.000879 0.000439 0.000253 0.000818 0.000000 0.001963 15 3 1 0 2 5 3 1 0 36882 1528 6506 1206 2276 11394 11866 1222 884 0.200000 0.000000 0.000000 0.000000 0.500000 0.200000 0.333333 0.000000 0.000000 3 0 0 0 1 1 1 0 0 3 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 RF 191 Exomes AGGG 255 Pass . . . . . . . . . . . . . . . . 0.96202534 . . . 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . . . . . . . . . . . . . . . . . . 6.596e-04 . . . 0.0061 0.0006 0.0035 0 0 0.0004 0 0.0002 0.0093 0.0008 0.0037 0 0 0.0011 0 0.0002 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000150753 CCT5 CCT5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs200292677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0004 0.0002 0 0.0009 0.0008 0.0003 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200292677 rs200292677 1 1538 255 1.I 0,0,255 +rs113061039 5 10263460 G A - CCT5 1618 Chaperonin containing TCP1, subunit 5 (epsilon) NM_012073.4 1 3675 1626 NP_036205.1 P48643 substitution intron GRCh37 10263460 10263460 Chr5(GRCh37):g.10263460G>A 1498+34 1498+34 NM_012073.4:c.1498+34G>A p.? p.? 10 10 610150 34 5' 81.8011 7.61415 0.98266 5.30055 81.8011 7.61415 0.98266 IV.82 0 rs113061039 yes no Frequency 1 0.000000 0 0.000954 0.001195 0.000300 0.001416 0.001657 0.000570 0.001499 0.000587 0.000000 0.001657 38 5 2 2 3 6 19 1 0 39822 4184 6672 1412 1810 10526 12676 1704 838 0.184211 0.000000 0.000000 0.500000 0.333333 0.166667 0.210526 0.000000 0.000000 7 0 0 1 1 1 4 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 155 Exomes transition G A G>A 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.974359 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.4427 . . . . . . . . . . . . 0.0006 0.0004 0.0010 0 0 0.0002 0 0.0003 0.0008 0.0005 0.0010 0 0 0.0005 0 0.0003 . . . . . . intronic intronic intronic . . . @ . . . 0.17 0.18 182 ENSG00000150753 CCT5 CCT5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs113061039 0.576 0.681 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0010 0.0003 0.0014 0.0017 0.0006 0.0015 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.58 . . rs113061039 rs113061039 1 1538 255 1.I 0,0,255 +rs141492551 5 14405920 C T - TRIO 12303 Trio Rho guanine nucleotide exchange factor NM_007118.3 1 11100 9294 NP_009049.2 O75962 substitution intron GRCh37 14405920 14405920 Chr5(GRCh37):g.14405920C>T 4717-37 4717-37 NM_007118.3:c.4717-37C>T p.? p.? 32 31 601893 -37 3' 67.5215 I.94 0.012215 0 67.5215 I.94 0.012215 0 0 rs141492551 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000829 0.000376 0.000350 0.001197 0.000000 0.000229 0.001436 0.000000 0.001244 0.001436 228 9 12 12 0 7 180 0 8 275092 23966 34272 10026 18844 30516 125318 25720 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 228 9 12 12 0 7 180 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4404 12990 14 2 16 0.00162791 0.000453926 0.0012302 0.00162791 0.000453926 0.0012302 40 transition C T C>T 0.000 -0.602 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.5104167 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . INTRON(MODIFIER||||TRIO|mRNA|CODING|NM_007118|) 0.0005 0.0012 0.0016 0.0005 0.0012 0.0016 . 0.2304 . . . . . . . . 7.657e-04 . . . 0.0005 0.0008 0.0003 0 0 0.0015 0.0014 0.0003 0.0004 0.0007 0.0003 0 0 0.0011 0.0015 0.0003 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.31 0.29 182 ENSG00000038382 TRIO TRIO . . . . . . 45 0.000692563 64976 43 0.000716834 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141492551 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830210 0.001230 . . . . . 0.0005 0.0008 0.0004 0.0012 0 0 0.0015 0.0013 0.0002 0.0002 0.0007 0 0 0 0 0.0013 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0016 . . rs141492551 rs141492551 1 1538 10 1/0 0,255,255 +rs181585790 5 23509281 C A - PRDM9 13994 PR/SET domain 9 NM_001310214.1 1 3138 2685 NP_001297143.1 Q9NQV7 substitution intron GRCh37 23509281 23509281 Chr5(GRCh37):g.23509281C>A 69+70 69+70 NM_001310214.1:c.69+70C>A p.? p.? 2 2 609760 70 5' 81.491 7.22671 0.943942 8.90096 81.491 7.22671 0.943942 8.79451 0 rs181585790 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.001000 0.001400 0.001260 0.000458 0.000000 0.000000 0.000000 0.000000 0.001935 0.001717 0.000000 0.001935 39 4 0 0 0 0 29 6 0 30958 8732 838 302 1620 0 14990 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 4 0 0 0 0 29 6 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.016 0.044 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0014 . 0.001 0.001 . . . . . 0.4370861 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.41 0.16 182 ENSG00000164256 PRDM9 PRDM9 . . . . . . 98 0.00150825 64976 95 0.0015837 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181585790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0013 0 0 0 0.0017 0.0019 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs181585790 rs181585790 1 1538 10 1/0 0,239,255 +rs61748193 5 32255878 G A - MTMR12 18191 Myotubularin related protein 12 NM_001040446.2 -1 5185 2244 NP_001035536.1 Q9C0I1 substitution splice site GRCh37 32255878 32255878 Chr5(GRCh37):g.32255878G>A 714-4 714-4 NM_001040446.2:c.714-4C>T p.? p.? 8 7 606501 -4 3' 88.6255 X.62 0.993988 8.75341 88.6255 11.0171 0.994622 8.66085 0.0256404 rs61748193 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008000 0.002900 0.006841 0.001187 0.001997 0.004058 0.000000 0.000344 0.011341 0.009848 0.006975 0.011341 1848 28 66 40 0 10 1409 251 44 270154 23586 33042 9858 18584 29048 124240 25488 6308 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000113 0.000078 0.000000 8 0 0 0 0 0 7 1 0 1832 28 66 40 0 10 1395 249 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8503 4397 12900 97 9 106 0.0112791 0.00204267 0.00815008 0.0112791 0.00204267 0.00815008 85 transition C T C>T 0.984 0.044 255 PASS . 0.0027 0.0028 . 0.01 . 0.002 0.0029 . 0.008 . . . . . . 0.48387095 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . 0.002 0.0081 0.011 0.002 0.0082 0.011 . I.43 . . . . . . . . 7.419e-03 . . . 0.0017 0.0057 0.0021 0 0.0134 0.0098 0.0018 0.0005 0.0019 0.0090 0.0018 0 0.0135 0.0149 0.0019 0.0005 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.57 0.26 182 ENSG00000150712 MTMR12 MTMR12 . . . . . . 502 0.00772593 64976 493 0.00821858 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61748193 . . . . . . . . . . . . . . . . . . . . 0.0001 0.008 . 0.008150 . . . . . 0.0011 0.0066 0.0018 0.0040 0 0.0099 0.0111 0.0062 0.0003 0.0014 0.0084 0.0084 0.0067 0 0.0094 0.0129 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs61748193 rs61748193 rs61748193 rs61748193 1 1538 10 1/0 0,255,255 +. 5 32710965 GT G - NPR3 7945 Natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) NM_001204375.1 1 7450 1626 NP_001191304.1 P17342 deletion upstream GRCh37 32710980 32710980 Chr5(GRCh37):g.32710980del -903 -903 NM_001204375.1:c.-903del p.? p.? 1 108962 -1672 5' 86.8044 8.70331 0.989706 XI.71 86.8044 8.70331 0.989706 XI.71 0 rs549379132 yes no Frequency/1000G 2 T 0.000000 0 0.191094 0.199700 0.160500 0.068500 0.298200 0.240600 T 255 Pass . . . . . 0.2 0.19 0.24 0.069 0.3 0.16 . . . . . 0.30882353 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000113389 NPR3 NPR3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs549379132 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1792e1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +rs143654915 5 33643533 G A - ADAMTS12 14605 ADAM metallopeptidase with thrombospondin type 1 motif 12 NM_030955.3 -1 8774 4785 NP_112217.2 P58397 substitution missense exon GRCh37 33643533 33643533 Chr5(GRCh37):g.33643533G>A 1522 1522 NM_030955.3:c.1522C>T p.Arg508Cys p.Arg508Cys 10 606184 43 3' 83.4705 6.02979 0.848959 3.98324 83.4705 6.02979 0.848959 3.06274 0 Cryptic Acceptor Weakly Activated 33643524 4.52683 0.072932 75.1218 3.48912 0.139914 77.8337 rs143654915 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000260 0.000125 0.000174 0.000099 0.000053 0.000065 0.000443 0.000000 0.000464 0.000443 72 3 6 1 1 2 56 0 3 276974 24030 34408 10142 18856 30776 126500 25794 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 70 3 6 1 1 0 56 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4405 13002 3 1 4 0.000348837 0.000226963 0.00030755 0.000348837 0.000226963 0.00030755 148 COSM1244281|COSM1244281 Stomach|Oesophagus 0.001161|0.000710 861|1409 transition C T C>T 1.000 6.097 R Arg CGC 0.190 C Cys TGC 0.552 508 12 10 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 252.53 VI.47 Deleterious 0.01 III.21 255 PASS 0.002 0.0005 . . . 0.0008 0.0002 . . . . . . ADAMTS12:NM_030955:exon10:c.C1522T:p.R508C . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.999 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R508C|ADAMTS12|mRNA|CODING|NM_030955|NM_030955.ex.10) 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . 0.7603 0.709 0.760 c . . . . . 2.920e-04 . . . 0.0002 0.0003 0.0002 0.0002 0 0.0005 0 0 0.0002 0.0003 0.0002 0.0001 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.605 . . exonic exonic exonic . . 0.840 0.0002 . . . 0.32 0.36 182 ENSG00000151388 ADAMTS12 ADAMTS12 . . . 1.0 0.983 . 11 0.000169293 64976 10 0.000166706 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.736 0.081 . . 37 . 0.782 . . 0.773 . . . 0.881 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 0 0.682 . . . . . 0.952 . 0.827 . HET 0.01 rs143654915 . . . . . . ID\x3dCOSM1244281\x3bOCCURENCE\x3d1(oesophagus) 4.578754578754579E-4 0.0020325203252032522 0.0 0.0 0.0 19.5412 0.0 . V.57 V.57 . 0.200000 . . . . 0.000308 . 0.879 . . V.57 0.0001 0.0003 0.0002 0.0001 5.802e-05 0 0.0004 0.0005 6.499e-05 0.0001 0.0003 0 0 0 0 0.0005 0 . . 0.428 . 2.611 2.611000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.848 . 0.713 2.611 0.917 0.002 . . rs143654915 rs143654915 1 1538 10 1/0 0,255,255 +. (chr5:34193377 A/G) 5 34193377 A G Not on a known gene +rs878955788 (chr5:34193414 A/G) 5 34193414 A G Not on a known gene +rs371610339 5 34818948 G C - RAI14 14873 Retinoic acid induced 14 NM_001145525.1 1 5338 2952 NP_001138997.1 substitution missense exon GRCh37 34818948 34818948 Chr5(GRCh37):g.34818948G>C 995 995 NM_001145525.1:c.995G>C p.Ser332Thr p.Ser332Thr 15 606586 -9 5' 94.6711 X.63 0.998885 3.06074 94.6711 X.63 0.998885 3.31801 0 Cryptic Acceptor Strongly Activated 34818957 0.002752 2.21036 0.00987 78.6988 rs371610339 yes no Frequency 1 G 0.000000 0 0.000111 0.000000 0.000000 0.000301 0.000000 0.000000 0.000192 0.000079 0.000159 0.000301 30 0 0 3 0 0 24 2 1 270374 23886 33028 9968 18426 28488 124878 25412 6288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 3 0 0 24 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 127 transversion G C G>C 1.000 3.918 S Ser AGT 0.149 T Thr ACT 0.243 332 10 9 Cow 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C55 0.00 57.75 Deleterious 0 IV.32 bad 2.152E-3 9.72E-5 255 PASS . . . . . . . . . . . . . . . . 0.46153846 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.524 . @ . . . . . 1 0.468 . . 26.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.4540 0.535 0.454 c . . . . . 8.682e-05 . . . 0 3.31e-05 0 0 0 7.13e-05 0 0 0 8.48e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . 0.828 @ . . . 0.49 0.5 182 ENSG00000039560 RAI14 RAI14 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.390 0.017 . . 37 . 0.428 . . 0.141 . . . 0.311 0.402 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.715 . . 0.782 . . . . . . 0 0.144 . . . . . 0.892 . 0.598 . HET 0.21 rs371610339 . . . . . . . . . . . . 18.0301 0.0 . V.54 V.54 . 0.680000 . . . Name\x3dnsv522144 0.000077 . 0.871 . . V.54 0 9.594e-05 0 0.0003 0 4.533e-05 0.0002 0 0 0 0.0002 0 0 0 0.0003 0.0003 0.0010 . . 0.730 . 2.779 2.779000 . . 0.680000 . . 1.0E-255 1.000 0.715 . 0.697 0.981 . 0.732 . 0.613 2.779 0.917 0.0001 . . rs371610339 rs371610339 1 1538 10 1/0 0,255,255 +rs374762144 5 34869033 G A - TTC23L 26355 Tetratricopeptide repeat domain 23 like NM_001317949.1 1 2343 1113 NP_001304878.1 substitution synonymous exon GRCh37 34869033 34869033 Chr5(GRCh37):g.34869033G>A 891 891 NM_001317949.1:c.891G>A p.Leu297= p.Leu297Leu 8 616344 24 3' 98.7131 8.52122 0.961972 8.06693 98.7131 8.52122 0.961972 7.49611 0 rs374762144 yes no Frequency 1 G 0.000000 0 0.000055 0.000000 0.000000 0.000301 0.000000 0.000000 0.000081 0.000078 0.000000 0.000301 15 0 0 3 0 0 10 2 0 270786 23578 33692 9982 18516 29544 123588 25534 6352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 3 0 0 10 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8299 3854 12153 1 0 1 0.000120482 0 8.22774e-05 0.000120482 0 8.22774e-05 57 transition G A G>A 0.575 -0.521 L Leu TTG 0.127 L Leu TTA 0.073 297 255 PASS . . . . . . . . . . . ENSG00000205838:ENST00000505624:exon8:c.G864A:p.L288L TTC23L:uc003jiu.3:exon8:c.G864A:p.L288L TTC23L:NM_144725:exon8:c.G864A:p.L288L . . 0.4864865 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L288|TTC23L|mRNA|CODING|NM_144725|NM_144725.ex.8) . 0.0001 0.0001 . 0.0001 0.0001 . 1.1173 . . . . . . . . 4.799e-05 . . . 0 3.539e-05 0 0 0 7.488e-05 0 0 0 4.774e-05 0 0 0 9.525e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.63 182 ENSG00000205838 TTC23L TTC23L . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374762144 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522144 0.000082 . . . . . 0 5.837e-05 0 0.0003 0 4.536e-05 9.21e-05 0 0 0 3.23e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs374762144 rs374762144 1 1538 10 1/0 0,255,255 +rs114609505 5 41195939 G A - C6 1339 Complement component 6 NM_000065.3 -1 3722 2805 NP_000056.2 P13671 substitution missense exon GRCh37 41195939 41195939 Chr5(GRCh37):g.41195939G>A 542 542 NM_000065.3:c.542C>T p.Thr181Ile p.Thr181Ile 5 217050 -46 5' 76.7375 7.43136 0.971786 2.16918 76.7375 7.43136 0.971786 1.78874 0 rs114609505 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008000 0.001400 0.006191 0.000957 0.001047 0.000887 0.000000 0.000000 0.009305 0.016804 0.005576 0.016804 1715 23 36 9 0 0 1178 433 36 277010 24030 34396 10148 18842 30776 126594 25768 6456 0.000079 0.000000 0.000000 0.000000 0.000000 0.000000 0.000126 0.000155 0.000310 11 0 0 0 0 0 8 2 1 1693 23 36 9 0 0 1162 429 34 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4401 12932 69 5 74 0.00802326 0.00113482 0.00568968 0.00802326 0.00113482 0.00568968 270 RCV000425292.1 germline clinical testing Likely benign 1 not provided COSM6470388 Lung 0.000402 2489 transition C T C>T 0.000 0.286 T Thr ACA 0.280 I Ile ATA 0.163 181 17 3 Mouse -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.15 III.33 255 PASS . 0.0037 0.0028 . 0.01 . 0.0018 0.0014 . 0.008 . . . . . . 0.5147059 . . @ 35 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.128 . @ . . . . . 1 0.244 . . 68.0 . . . 0.0011 0.0057 0.008 0.0011 0.0057 0.008 . -0.7888 -0.770 -0.789 c . . . . . 6.898e-03 . . . 0.0010 0.0038 0.0010 0 0.015 0.0062 0.0042 0 0.0008 0.0068 0.0010 0 0.0147 0.0112 0.0029 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.611 . . exonic exonic exonic . . 0.303 0.0018 . . . 0.37 0.37 182 ENSG00000039537 C6 C6 . . . 0.000 0.072 . 502 0.00772593 64976 493 0.00821858 59986 Likely_benign . 0 . 0.011 . . . . . . . . . 37 . 0.353 . . 0.276 . . . 0.170 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.404 . . 0 0 0 0 0 0 . 0.090 . . 0.154 . . . . . . 0 0.230 . . . . . 0.065 . 0.022 . HET 0.11 rs114609505 0.022 0.014 . . . . . 0.003663003663003663 0.0 0.0027624309392265192 0.0 0.009234828496042216 III.81 0.00107 . V.65 II.63 . 0.190000 P13671 . . . 0.005690 . 0.137 . . II.63 0.0010 0.0061 0.0010 0.0009 0 0.0162 0.0094 0.0044 0 0.0009 0.0071 0.0012 0 0 0.0206 0.0085 0.0122 . . 0.133 . 1.343 1.343000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.220 . 0.713 1.343 -0.045 0.022 . . rs114609505 rs114609505 1 1538 10 1/0 0,255,255 +rs151191974 5 41912223 C T - C5orf51 27750 Chromosome 5 open reading frame 51 NM_175921.5 1 5246 885 NP_787117.3 A6NDU8 substitution missense exon GRCh37 41912223 41912223 Chr5(GRCh37):g.41912223C>T 539 539 NM_175921.5:c.539C>T p.Pro180Leu p.Pro180Leu 5 53 3' 76.3278 4.23986 0.350776 0 76.3278 4.23986 0.350776 0 0 rs151191974 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000800 0.000000 0.000000 0.005000 0.002900 0.004807 0.000874 0.006527 0.000888 0.000000 0.001463 0.007028 0.003430 0.008367 0.007028 1330 21 224 9 0 45 889 88 54 276692 24020 34320 10134 18860 30754 126492 25658 6454 0.000065 0.000083 0.000000 0.000000 0.000000 0.000260 0.000063 0.000000 0.000000 9 1 0 0 0 4 4 0 0 1312 19 224 9 0 37 881 88 54 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8547 4401 12948 49 5 54 0.00570033 0.00113482 0.00415321 0.00570033 0.00113482 0.00415321 171 transition C T C>T 1.000 4.806 P Pro CCT 0.283 L Leu CTT 0.129 180 12 10 Platypus -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C15 73.35 97.78 Deleterious 0.01 III.56 255 PASS . 0.0027 0.0028 . 0.01 0.0008 0.0016 0.0029 . 0.005 . ENSG00000205765:ENST00000381647:exon5:c.C539T:p.P180L C5orf51:uc003jmo.3:exon5:c.C539T:p.P180L C5orf51:NM_175921:exon5:c.C539T:p.P180L . . 0.47272727 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.939 . @ . . . . . 1 0.951 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P180L|C5orf51|mRNA|CODING|NM_175921|NM_175921.ex.5) 0.0011 0.0042 0.0057 0.0011 0.0042 0.0057 . 0.6342 0.673 0.634 c . . . . . 4.980e-03 . . . 0.0012 0.0045 0.0053 0 0.0045 0.0069 0.0140 0.0010 0.0011 0.0048 0.0054 0 0.0036 0.0073 0.0130 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.834 . . exonic exonic exonic . . 0.934 0.0016 . . . 0.64 0.31 182 ENSG00000205765 C5orf51 C5orf51 . . . 1.000 0.747 . 293 0.00450936 64976 285 0.00475111 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.823 . . 0.855 . . . 0.579 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.951 . . 0 0 0 0 0 0 . 0.764 . . 0.693 . . . . . . 0 0.682 . . . . . 0.902 . 0.841 . HET 0.01 rs151191974 . . . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 18.3385 0.001071 ENST00000381647 V.84 V.84 . 0.000000 A6NDU8 . . . 0.004153 . 0.793 . . V.84 0.0009 0.0048 0.0065 0.0009 0 0.0032 0.0070 0.0086 0.0015 0.0008 0.0046 0.0084 0 0 0.0046 0.0071 0.0071 . . 0.924 . 2.767 2.767000 . . 0.000000 . . 1.0E-255 0.999 0.424 . 0.697 0.998 . 0.529 . 0.362 2.767 0.871 0.01 . . rs151191974 rs151191974 1 1538 10 1/0 0,255,255 +rs367775935 5 52394388 T G - MOCS2 7193 Molybdenum cofactor synthesis 2 NM_004531.4 -1 4181 567 NP_004522.1 O96007 substitution 3'UTR GRCh37 52394388 52394388 Chr5(GRCh37):g.52394388T>G *44 *44 NM_004531.4:c.*44A>C p.? p.? 7 603708 110 3' 92.9953 9.94675 0.976996 6.64134 92.9953 9.94675 0.976996 6.64134 0 rs367775935 yes no Frequency/1000G 2 T uncertain_significance,likely_benign 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001945 0.001083 0.002330 0.000099 0.000000 0.000000 0.003310 0.000078 0.001708 0.003310 538 26 80 1 0 0 418 2 11 276550 24014 34332 10126 18844 30762 126274 25756 6442 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 536 26 80 1 0 0 416 2 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4401 12962 31 5 36 0.00360801 0.00113482 0.00276966 0.00360801 0.00113482 0.00276966 74 RCV000381148.1|RCV000386161.1 germline|germline clinical testing|clinical testing VUS|Likely benign 1|1 Molybdenum cofactor deficiency|Platelet-type bleeding disorder 9 transversion A C A>C 0.000 -0.763 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.54347825 . . germline 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance//\%//\@Likely//\@benign Uncertain_significance|Likely_benign RCV000381148.1|RCV000386161.1 Molybdenum_cofactor_deficiency|Platelet-type_bleeding_disorder_9 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet HP:0003570:CN003223|C3280114:614200:ORPHA98886 3 . . . 46.0 . . . 0.0011 0.0028 0.0036 0.0011 0.0028 0.0036 . -0.0470 . . . . . . . . 2.131e-03 . . . 0.0012 0.0021 0.0018 0 0 0.0037 0.0014 0 0.0010 0.0020 0.0018 0 0 0.0033 0.0015 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.46 0.69 182 ENSG00000164172 MOCS2 MOCS2 . . . . . . 124 0.0019084 64976 123 0.00205048 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367775935 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830296 0.002770 . . . . . 0.0011 0.0019 0.0024 0.0001 0 8.983e-05 0.0033 0.0015 0 0.0010 0.0019 0.0012 0 0 0 0.0031 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0036 . . rs367775935 rs367775935 1 1538 10 1/0 0,255,255 +rs148952293 5 54948538 A G - SLC38A9 26907 Solute carrier family 38 member 9 NM_001349382.1 -1 2805 1686 NP_001336311.1 Q8NBW4 substitution synonymous exon GRCh37 54948538 54948538 Chr5(GRCh37):g.54948538A>G 771 771 NM_001349382.1:c.771T>C p.Ser257= p.Ser257Ser 12 616203 14 3' 87.4606 9.08897 0.613339 10.0857 87.4606 9.08897 0.505487 10.1466 -0.0586147 rs148952293 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.005669 0.000877 0.001609 0.000000 0.000000 0.000263 0.005799 0.027674 0.005171 0.027674 1550 21 54 0 0 8 724 710 33 273430 23948 33564 10012 18636 30380 124852 25656 6382 0.000110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000935 0.000000 15 0 0 0 0 0 3 12 0 1520 21 54 0 0 8 718 686 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4398 12942 56 8 64 0.00651163 0.00181571 0.00492081 0.00651163 0.00181571 0.00492081 64 transition T C T>C 0.906 -0.037 S Ser AGT 0.149 S Ser AGC 0.243 257 255 PASS . 0.0023 0.01 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.4375 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 48.0 . . . 0.0018 0.0049 0.0065 0.0018 0.0049 0.0065 . 1.0517 . . . . . . . . 5.360e-03 . . . 0.0012 0.0039 0.0012 0 0.0319 0.0046 0.0071 0.0002 0.0013 0.0052 0.0013 0 0.0283 0.0061 0.0073 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.28 0.54 182 ENSG00000177058 SLC38A9 SLC38A9 . . . . . . 434 0.00667939 64976 426 0.00710166 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148952293 . . . . . . . . . . . . . . . . . . . . . . . 0.004921 . . . . . 0.0011 0.0055 0.0016 0 0 0.0272 0.0057 0.0048 0.0003 0.0005 0.0072 0.0024 0 0 0.0308 0.0068 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs148952293 rs148952293 1 1538 10 1/0 0,255,255 +rs77017041 5 55407449 A G - ANKRD55 25681 Ankyrin repeat domain 55 NM_024669.2 -1 2500 1845 NP_078945.2 substitution missense exon GRCh37 55407449 55407449 Chr5(GRCh37):g.55407449A>G 1126 1126 NM_024669.2:c.1126T>C p.Ser376Pro p.Ser376Pro 10 615189 161 3' 77.0765 4.84944 0.677377 6.94189 77.0765 4.84944 0.677377 6.94189 0 rs77017041 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.006000 0.004300 0.004646 0.001697 0.000872 0.001453 0.000000 0.001588 0.007181 0.007382 0.005085 0.007382 1122 40 26 10 0 34 810 174 28 241494 23576 29812 6884 17944 21406 112794 23572 5506 0.000066 0.000000 0.000000 0.000000 0.000000 0.000187 0.000106 0.000000 0.000000 8 0 0 0 0 2 6 0 0 1106 40 26 10 0 30 798 174 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4401 12929 72 5 77 0.00837209 0.00113482 0.00592034 0.00837209 0.00113482 0.00592034 289 transition T C T>C 1.000 3.918 S Ser TCA 0.148 P Pro CCA 0.274 376 13 11 Frog -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 215.31 IX.71 Deleterious 0.01 III.59 bad 1.729E-5 9.498E-5 255 PASS . 0.0027 . . 0.01 . 0.0018 0.0043 . 0.006 . . . ANKRD55:NM_024669:exon10:c.T1126C:p.S376P . . 0.5344828 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.495 . @ . . . . . 1 0.928 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Cca|S376P|ANKRD55|mRNA|CODING|NM_024669|NM_024669.ex.10) 0.0011 0.0059 0.0084 0.0011 0.0059 0.0084 . 0.4632 0.478 0.463 c . . . . . 4.197e-03 . . . 0.0012 0.0041 0.0005 0 0.0071 0.0069 0.0049 0.0014 0.0010 0.0039 0.0006 0 0.0074 0.0056 0.0051 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.527 . . exonic exonic exonic . . 0.799 0.0018 . . . 0.41 0.54 182 ENSG00000164512 ANKRD55 ANKRD55 . . . 1.000 0.747 . 423 0.0065101 64976 414 0.00690161 59986 Uncertain_significance . 0 . 0.466 . . . . D 0.550 0.033 . . 37 . 0.468 . . 0.546 . . . 0.656 0.504 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.680 . . 0 0 0 0 0 0 . 0.670 . . 0.608 . . . . . . 0 0.721 . . . . . 0.789 . 0.741 . HET 0.01 rs77017041 . . . . . . . 0.0027472527472527475 0.0 0.0 0.0 0.0079155672823219 15.8839 0.00107 . V.46 V.46 . 0.030000 . . . Name\x3dnsv329245 0.005920 . 0.586 . . V.46 0.0013 0.0044 0.0009 0.0015 0 0.0077 0.0068 0.0042 0.0016 0.0024 0.0062 0.0012 0 0 0.0057 0.0094 0.0092 . . 0.246 . 2.213 2.213000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.452 0.806 . 0.698 . 0.960 2.213 1.039 0.01 . . rs77017041 rs77017041 1 1538 10 1/0 0,255,255 +rs140760439 5 60825947 G A - ZSWIM6 29316 Zinc finger, SWIM-type containing 6 NM_020928.1 1 5503 3648 NP_065979.1 Q9HCJ5 substitution missense exon GRCh37 60825947 60825947 Chr5(GRCh37):g.60825947G>A 1906 1906 NM_020928.1:c.1906G>A p.Val636Met p.Val636Met 8 615951 69 3' 85.5424 8.17243 0.964867 X.72 85.5424 8.17243 0.964867 10.1332 0 rs140760439 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000000 0.008200 0.000000 0.007000 0.004300 0.004200 0.000970 0.004639 0.004789 0.000000 0.007363 0.005146 0.000841 0.006953 0.007363 769 16 115 41 0 168 378 17 34 183082 16492 24792 8562 11862 22816 73454 20214 4890 0.000033 0.000000 0.000000 0.000000 0.000000 0.000175 0.000000 0.000000 0.000409 3 0 0 0 0 2 0 0 1 763 16 115 41 0 164 378 17 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3168 1382 4550 14 2 16 0.00439975 0.00144509 0.00350416 0.00439975 0.00144509 0.00350416 85 transition G A G>A 1.000 3.030 V Val GTG 0.468 M Met ATG 1.000 636 15 11 Fruitfly 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 235.27 0.00 Deleterious 0.01 III.33 bad 2.157E-3 0.0006316 255 PASS . 0.0027 0.01 . 0.01 . 0.0036 0.0043 . 0.007 0.0082 ENSG00000130449:ENST00000252744:exon8:c.G1906A:p.V636M ZSWIM6:uc003jsr.3:exon8:c.G1906A:p.V636M ZSWIM6:NM_020928:exon8:c.G1906A:p.V636M . . 0.55932206 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.841 . @ . . . . . 1 0.980 . . 59.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V636M|ZSWIM6|mRNA|CODING|NM_020928|NM_020928.ex.8) 0.0014 0.0035 0.0044 0.0014 0.0035 0.0044 . 0.5619 0.629 0.562 c . . . . . 4.488e-03 . . . 0.0014 0.0058 0.0024 0 0 0.0063 0.0051 0.0070 0.0013 0.0054 0.0034 0 0.0012 0.0059 0.0056 0.0070 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.635 0.0036 . . . 0.75 0.41 182 ENSG00000130449 ZSWIM6 ZSWIM6 . . . 1.000 0.747 . 315 0.00484794 64976 297 0.00495116 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.358 0.015 . . 37 . 0.357 . . 0.551 . . . 0.145 0.329 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.480 . . 0.594 . . . . . . 0 0.784 . . . . . 0.086 . 0.378 . HET 0 rs140760439 . . . . . . . 0.0027472527472527475 0.0 0.0055248618784530384 0.0 0.005277044854881266 III.83 0.002849 ENST00000252744 V.88 4.IX . 0.000000 Q9HCJ5 . . . 0.003504 . 0.508 . . 4.IX 0.0010 0.0044 0.0048 0.0046 0 0.0008 0.0051 0.0077 0.0074 0.0009 0.0032 0.0012 0.0099 0 0.0009 0.0053 0.0041 . . 0.730 . 2.782 2.782000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.983 . 0.715 . 0.713 2.782 0.069 0.01 . . rs140760439 rs140760439 1 1538 10 1/0 0,255,255 +. 5 64921043 C T - TRAPPC13 25828 Trafficking protein particle complex 13 NM_001093755.1 1 3103 1257 NP_001087224.1 substitution intron GRCh37 64921043 64921043 Chr5(GRCh37):g.64921043C>T 46+110 46+110 NM_001093755.1:c.46+110C>T p.? p.? 1 1 110 5' 81.7632 8.138 0.722198 5.30023 81.7632 8.138 0.722198 5.30023 0 rs1056980418 no no 0 C 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30982 8734 836 302 1622 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.61764705 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . I.95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . TRAPPC13 TRAPPC13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.228e-05 0 0 0 0 6.661e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 5 64921043 C T - TRIM23 660 Tripartite motif-containing 23 NM_001656.3 -1 3900 1725 NP_001647.1 P36406 substitution upstream GRCh37 64921043 64921043 Chr5(GRCh37):g.64921043C>T -942 -942 NM_001656.3:c.-942G>A p.? p.? 1 601747 -1023 5' 90.3122 9.15773 0.958766 6.78337 90.3122 9.15773 0.958766 6.78337 0 rs1056980418 no no 0 C 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30982 8734 836 302 1622 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.61764705 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . I.95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . TRAPPC13 TRAPPC13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.228e-05 0 0 0 0 6.661e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs878916436 5 68874621 C T - GTF2H2C 31394 GTF2H2 family member C NM_001098728.2 1 1658 1188 NP_001092198.1 Q6P1K8 substitution synonymous exon GRCh37 68874621 68874621 Chr5(GRCh37):g.68874621C>T 553 553 NM_001098728.2:c.553C>T p.Leu185= p.Leu185Leu 9 -9 5' 71.6826 7.06725 0.897272 0 71.6826 7.06725 0.897272 0 0 Cryptic Acceptor Weakly Activated 68874630 4.26611 0.007695 68.9304 3.89811 0.020847 71.6423 TFIIH subunit Ssl1/p44 von Willebrand factor, type A Ssl1-like rs878916436 yes no Frequency 1 C 0.000000 0 0.002429 0.005057 0.000000 0.000000 0.000000 0.011111 0.000000 0.000000 0.000000 0.011111 11 8 0 0 0 3 0 0 0 4528 1582 508 142 608 270 914 426 78 0.000442 0.000000 0.000000 0.000000 0.000000 0.007407 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 9 8 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424491 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.969 1.093 L Leu CTA 0.070 L Leu TTA 0.073 185 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . 0.9978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.64 182 ENSG00000183474 GTF2H2C . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0071 0.0025 0 0 0 0 0 0 0.0111 0.0039 0.0023 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs233198 rs233198 rs233198 rs233198 1 1538 10 1/0 0,255,255 +rs878916436 (chr5:68874621 C/T) 5 68874621 C T Transcript NM_001042490.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) GTF2H2C_2 +rs559552701 (chr5:68928787 A/C) 5 68928787 A C Not on a known gene +rs201113383 (chr5:68929009 T/C) 5 68929009 T C Not on a known gene +rs368257592 (chr5:68929196 T/C) 5 68929196 T C Not on a known gene +rs184166635 (chr5:68930320 A/C) 5 68930320 A C Not on a known gene +rs766360193 (chr5:68931081 C/G) 5 68931081 C G Not on a known gene +. (chr5:69195092 T/G) 5 69195092 T G Not on a known gene +. (chr5:69195458 G/T) 5 69195458 G T Not on a known gene +. (chr5:69195705 G/C) 5 69195705 G C Not on a known gene +. (chr5:69195748 G/A) 5 69195748 G A Not on a known gene +. (chr5:69195908 T/G) 5 69195908 T G Not on a known gene +. (chr5:69196274 G/T) 5 69196274 G T Not on a known gene +. (chr5:69196412 G/T) 5 69196412 G T Not on a known gene +. (chr5:69197755 G/C) 5 69197755 G C Not on a known gene +. (chr5:69197875 T/C) 5 69197875 T C Not on a known gene +. (chr5:69198032 T/G) 5 69198032 T G Not on a known gene +. (chr5:69198974 A/C) 5 69198974 A C Not on a known gene +. (chr5:69198978 G/A) 5 69198978 G A Not on a known gene +. (chr5:69211957 G/A) 5 69211957 G A Not on a known gene +. (chr5:69211964 C/T) 5 69211964 C T Not on a known gene +. (chr5:69212048 C/A) 5 69212048 C A Not on a known gene +. (chr5:69216611 A/G) 5 69216611 A G Not on a known gene +. 5 69359244 C T - SMN2 11118 Survival of motor neuron 2, centromeric NM_017411.3 1 1628 885 NP_059107.1 Q16637 substitution synonymous exon GRCh37 69359244 69359244 Chr5(GRCh37):g.69359244C>T 84 84 NM_017411.3:c.84C>T p.Ser28= p.Ser28Ser 2 601627 3 3' 86.5998 8.97548 0.980859 7.76752 86.5998 8.43249 0.978644 7.88205 -0.0209183 Survival motor neuron transition C T C>T 1.000 0.770 S Ser AGC 0.243 S Ser AGT 0.149 28 225 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . 1.1345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.34 182 ENSG00000205571 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . rs17851287 rs17851287 rs26788 rs26788 1 1538 10 1/0 0,255,255 +. 5 69362949 A G - SMN2 11118 Survival of motor neuron 2, centromeric NM_017411.3 1 1628 885 NP_059107.1 Q16637 substitution synonymous exon GRCh37 69362949 69362949 Chr5(GRCh37):g.69362949A>G 462 462 NM_017411.3:c.462A>G p.Gln154= p.Gln154Gln 4 601627 -13 5' 91.9265 X.44 0.998865 0 91.9265 X.44 0.998865 0 0 Survival motor neuron transition A G A>G 0.008 -0.279 Q Gln CAA 0.256 Q Gln CAG 0.744 154 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 9.0 . . . . . . . . . . 0.1733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.38 182 ENSG00000205571 SMN2 . . . . . . . 53628 0.825351 64976 48950 0.816024 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.043 rs4915 rs4915 rs4915 rs4915 1 1538 255 1.I 0,0,255 +. (chr5:69493165 T/C) 5 69493165 T C Not on a known gene +. (chr5:69497813 G/A) 5 69497813 G A Not on a known gene +rs531111787 (chr5:69497820 C/T) 5 69497820 C T Not on a known gene +. (chr5:69510824 T/G) 5 69510824 T G Not on a known gene +. (chr5:69511432 C/T) 5 69511432 C T Not on a known gene +. 5 69529482 C T - GUSBP3 37301 Glucuronidase, beta pseudogene 3 NR_027386.1 -1 1469 0 substitution intron GRCh37 69529482 69529482 Chr5(GRCh37):g.69529482C>T 293-7860 293-7860 NR_027386.1:n.293-7860G>A p.? p.? 4 3 -7860 3' 88.7067 11.1555 0.945787 10.1024 88.7067 11.1555 0.945787 10.1024 0 transition G A G>A 0.000 -14.080 175 PASS . . . . . . . . . . . . . . . . 0.10309278 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . -0.3236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000250867 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +. 5 69729779 C T - GTF2H2B 31393 General transcription factor IIH, polypeptide 2B (pseudogene) NR_033417.1 1 4374 0 substitution exon GRCh37 69729779 69729779 Chr5(GRCh37):g.69729779C>T 730 730 NR_033417.1:n.730C>T 8 -9 5' 71.6826 7.06725 0.897272 0 71.6826 7.06725 0.897272 0 0 Cryptic Acceptor Weakly Activated 69729788 4.26611 0.007695 68.9304 3.89811 0.020847 71.6423 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 332 8 4 4 6 0 242 50 18 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 168 Genomes transition C T C>T 0.984 0.770 255 PASS . . . . . . . . . . . . . . . . 0.59375 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . 0.6072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.49 0.42 182 ENSG00000226259 GTF2H2B GTF2H2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs233198 rs233198 rs233198 rs233198 1 1538 10 1/0 0,255,255 +. (chr5:69784257 A/C) 5 69784257 A C Not on a known gene +. (chr5:69785233 C/A) 5 69785233 C A Not on a known gene +. (chr5:69785787 G/A) 5 69785787 G A Not on a known gene +rs71230772 (chr5:69786058 A/C) 5 69786058 A C Not on a known gene +rs3931806 (chr5:69786606 G/A) 5 69786606 G A Not on a known gene +. (chr5:69805351 C/G) 5 69805351 C G Not on a known gene +. (chr5:69805359 G/A) 5 69805359 G A Not on a known gene +rs376208241 (chr5:69806863 C/G) 5 69806863 C G Not on a known gene +rs71235635 (chr5:69807887 G/A) 5 69807887 G A Not on a known gene +. (chr5:69808074 C/T) 5 69808074 C T Not on a known gene +. (chr5:69825246 C/T) 5 69825246 C T Not on a known gene +. (chr5:69825250 T/G) 5 69825250 T G Not on a known gene +. (chr5:69825858 C/T) 5 69825858 C T Not on a known gene +. (chr5:70070974 T/G) 5 70070974 T G Not on a known gene +. (chr5:70071340 G/T) 5 70071340 G T Not on a known gene +. (chr5:70071478 G/T) 5 70071478 G T Not on a known gene +. (chr5:70073395 G/T) 5 70073395 G T Not on a known gene +. (chr5:70087008 G/A) 5 70087008 G A Not on a known gene +. (chr5:70087015 C/T) 5 70087015 C T Not on a known gene +. (chr5:70087099 C/A) 5 70087099 C A Not on a known gene +. (chr5:70091660 A/G) 5 70091660 A G Not on a known gene +. 5 70234668 C T - SMN1 11117 Survival of motor neuron 1, telomeric NM_000344.3 1 1625 885 NP_000335.1 Q16637 substitution synonymous exon GRCh37 70234668 70234668 Chr5(GRCh37):g.70234668C>T 84 84 NM_000344.3:c.84C>T p.Ser28= p.Ser28Ser 2 600354 3 3' 86.5998 8.97548 0.980859 7.76752 86.5998 8.43249 0.978644 7.88205 -0.0209183 Survival motor neuron CM108223 Spinal muscular atrophy 20564270 DM? transition C T C>T 1.000 0.770 S Ser AGC 0.243 S Ser AGT 0.149 28 213 PASS . . . . . . . . . . . . . . . . 0.19565217 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.8394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.34 182 ENSG00000172062 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs17851287 rs17851287 rs26788 rs26788 1 1538 10 1/0 0,255,255 +rs4915 5 70238373 A G - SMN1 11117 Survival of motor neuron 1, telomeric NM_000344.3 1 1625 885 NP_000335.1 Q16637 substitution synonymous exon GRCh37 70238373 70238373 Chr5(GRCh37):g.70238373A>G 462 462 NM_000344.3:c.462A>G p.Gln154= p.Gln154Gln 4 600354 -13 5' 91.9265 X.44 0.998865 0 91.9265 X.44 0.998865 0 0 Survival motor neuron rs4915 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.976 0.367 Q Gln CAA 0.256 Q Gln CAG 0.744 154 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 8.0 . . . . . . . . . . 0.5735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.35 182 ENSG00000172062 SMN2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.043 rs4915 rs4915 rs4915 rs4915 1 1538 255 1.I 0,0,255 +. (chr5:70511796 C/T) 5 70511796 C T Not on a known gene +. 5 70529817 C T - GUSBP9 42323 Glucuronidase, beta pseudogene 9 NR_033968.1 -1 610 0 substitution intron GRCh37 70529817 70529817 Chr5(GRCh37):g.70529817C>T 107-7836 107-7836 NR_033968.1:n.107-7836G>A p.? p.? 2 1 -7836 3' 88.7067 11.1555 0.945787 10.1024 88.7067 11.1555 0.945787 10.1024 0 transition G A G>A 0.000 -14.080 175 PASS . . . . . . . . . . . . . . . . 0.103225805 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . INTRON(MODIFIER||||GUSBP9|Non-coding_transcript|NON_CODING|NR_033968.2|) . . . . . . . -0.3234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000254276 GUSBP9 GUSBP9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs373074230 5 73207349 G A - ARHGEF28 30322 Rho guanine nucleotide exchange factor (GEF) 28 NM_001080479.2 1 6352 5196 NP_001073948.2 substitution missense exon GRCh37 73207349 73207349 Chr5(GRCh37):g.73207349G>A 4897 4897 NM_001080479.2:c.4897G>A p.Gly1633Ser p.Gly1633Ser 35 612790 -52 5' 78.7895 6.49302 0.97042 0 78.7895 6.49302 0.97042 0 0 rs373074230 yes no Frequency 1 G 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000104 0.000039 0.000000 0.000104 14 0 0 0 0 0 13 1 0 274540 23840 34138 10082 18758 30236 125344 25708 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 13 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8463 4186 12649 1 0 1 0.000118147 0 7.90514e-05 0.000118147 0 7.90514e-05 40 transition G A G>A 0.000 -0.602 G Gly GGC 0.342 S Ser AGC 0.243 1633 12 4 Mouse 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Tolerated 0.56 III.41 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.43243244 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.063 . @ . . . . . 1 0.041 . . 74.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -1.6202 -1.625 -1.620 c . . . . . 4.779e-05 . . . 0 7.495e-05 0 0 0.0003 0.0001 0 0 0 4.284e-05 0 0 0.0002 6.136e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.286 . . exonic exonic exonic . . 0.052 @ . . . 0.27 0.31 182 ENSG00000214944 ARHGEF28 ARHGEF28 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . T 0.161 0.006 . . 37 . 0.141 . . 0.342 . . . 0.094 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.112 . . 0 0 0 0 0 0 . 0.189 . . 0.158 . . . . . . 0 0.048 . . . . . 0.036 . 0.061 . HET 0.4 rs373074230 . . . . . . . . . . . . 2.1882 . . V.41 -2.97 . 0.730000 . . . Name\x3dnsv830349 0.000079 . 0.066 . . . 0 4.927e-05 0 0 0 4.501e-05 9.97e-05 0 0 0 6.457e-05 0 0 0 0 0.0001 0 . . 0.730 . -0.174 -0.174000 . . 0.730000 . . 1.0E-255 0.001 0.137 . 0.104 0.026 . 0.129 . 0.020 -0.174 -1.125 0.0001 . . rs373074230 rs373074230 1 1538 10 1/0 0,255,255 +rs531612756 5 76709235 T C - PDE8B 8794 Phosphodiesterase 8B NM_001349749.1 1 4468 2721 NP_001336678.1 substitution intron GRCh37 76709235 76709235 Chr5(GRCh37):g.76709235T>C 1974+101 1974+101 NM_001349749.1:c.1974+101T>C p.? p.? 18 18 603390 101 5' 84.2838 9.45172 0.958285 5.00651 84.2838 9.45172 0.958285 5.00651 0 rs531612756 yes no Frequency 1 T 0.000000 0 0.000161 0.000000 0.000000 0.000000 0.000000 0.000000 0.000333 0.000000 0.000000 0.000333 5 0 0 0 0 0 5 0 0 30982 8734 838 302 1622 0 15014 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition T C T>C 0.039 0.609 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.0124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000113231 PDE8B PDE8B . . . . . . 10 0.000153903 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531612756 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv4889 . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 5 77745853 C CA - SCAMP1 10563 Secretory carrier membrane protein 1 XR_241791.1 1 4407 0 duplication exon GRCh37 77745854 77745855 Chr5(GRCh37):g.77745854dup 732 732 XR_241791.1:n.732dup 6 606911 -3 5' 87.3609 X.15 0.993697 2.66239 87.3609 X.15 0.995385 0.745162 0.000566236 rs66744502 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999986 0.999901 1.000000 1.000000 1.000000 0.999953 1.000000 1.000000 1.000000 1.000000 221397 20180 19576 8646 13300 21365 109420 24070 4840 221400 20182 19576 8646 13300 21366 109420 24070 4840 0.999973 0.999802 1.000000 1.000000 1.000000 0.999906 1.000000 1.000000 1.000000 110697 10089 9788 4323 6650 10682 54710 12035 2420 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 2 6 8 7784 3474 11258 0.000256871 0.00172414 0.000710101 0.999743 0.998276 0.99929 128 A 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. ENSG00000085365:ENST00000538629:exon7:c.730dupA:p.G243fs SCAMP1:uc003kfl.3:exon8:c.728dupA:p.H243fs UNKNOWN . . 0.9259259 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 27 . . . . . . 1. 1. 1. . . . . . . . . . . 1.000 . . . 0.9998 1.0000 1 1 1 1.0000 1 1 0.9998 1.0000 1 1 1 1.0000 1 1 frameshift_insertion frameshift_insertion unknown . . . exonic exonic exonic . . . . . . . . . . ENSG00000085365 SCAMP1 SCAMP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397998271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 1.0000 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs66744502 rs66744502 1 1538 10 1.I 0,3,3 +rs200054458 5 79095473 T A - CMYA5 14305 Cardiomyopathy associated 5 NM_153610.4 1 12892 12210 NP_705838.3 Q8N3K9 substitution 3'UTR GRCh37 79095473 79095473 Chr5(GRCh37):g.79095473T>A *34 *34 NM_153610.4:c.*34T>A p.? p.? 13 612193 281 3' 87.6006 9.72952 0.97429 9.32641 87.6006 9.72952 0.97429 9.32641 0 rs200054458 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001504 0.000280 0.000164 0.000328 0.000000 0.000000 0.002827 0.001599 0.001366 0.002827 364 6 5 3 0 0 304 38 8 242026 21454 30534 9146 16746 26984 107538 23766 5858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 364 6 5 3 0 0 304 38 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8158 3640 11798 12 2 14 0.00146879 0.000549149 0.00118524 0.00146879 0.000549149 0.00118524 19 transversion T A T>A 0.000 0.367 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . . . . . 0.5116279 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . UTR_3_PRIME(MODIFIER||||CMYA5|mRNA|CODING|NM_153610|NM_153610.ex.13) 0.0005 0.0012 0.0015 0.0005 0.0012 0.0015 . 0.4042 . . . . . . . . 1.485e-03 . . . 0.0005 0.0015 0.0002 0 0.0026 0.0028 0.0022 0 0.0006 0.0019 0.0002 0 0.0028 0.0034 0.0024 0 . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0004 . . . 0.36 0.62 182 ENSG00000250258 CMYA5 CMYA5 . uc003kgc.3:c.*34T>A NM_153610:c.*34T>A . . . 87 0.00133896 64976 85 0.001417 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200054458 . . . . . . . . . . . . . . . . . . . . . . . 0.001185 . . . . II.22 0.0002 0.0014 0.0001 0.0003 0 0.0016 0.0027 0.0016 0 0.0003 0.0020 0.0012 0 0 0.0014 0.0035 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs200054458 rs200054458 1 1538 10 1/0 0,255,255 +. 5 79354086 C G - THBS4 11788 Thrombospondin 4 NM_003248.5 1 3271 2886 NP_003239.2 P35443 substitution missense exon GRCh37 79354086 79354086 Chr5(GRCh37):g.79354086C>G 598 598 NM_003248.5:c.598C>G p.Leu200Val p.Leu200Val 4 600715 -52 5' 80.4452 6.34467 0.761499 1.74284 80.4452 6.34467 0.761499 2.00361 0 transversion C G C>G 1.000 2.142 L Leu CTG 0.404 V Val GTG 0.468 200 12 10 Zebrafish 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 101.88 26.34 Tolerated 0.17 III.51 255 PASS . . . . . . . . . . . . THBS4:uc021yaw.1:exon4:c.C598G:p.L200V . . . 0.67164177 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.751 . @ . . . . . 1 0.741 . . 67.0 . . . . . . . . . . 0.3213 0.389 0.321 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.876 @ . . . . . . ENSG00000113296 THBS4 THBS4 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . 0.559 . . . . D 0.663 0.055 . . 37 . 0.833 . . 0.839 . . . 0.761 0.433 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.348 . . 0 0 0 0 0 0 . 0.431 . . 0.343 . . . . . . 0 0.393 . . . . . 0.654 . 0.468 . HET 0.04 . . . . . . . . . . . . . 14.247 . . V.67 V.67 . 0.160000 P35443 . . . . . 0.589 . . V.67 . . . . . . . . . . . . . . . . . . . 0.609 . 2.667 2.667000 . . 0.160000 . . 1.0E-255 1.000 0.715 . 0.574 0.997 . 0.313 . 0.362 2.667 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs138974357 5 86708510 G T - CCNH 1594 Cyclin H NM_001239.3 -1 1395 972 NP_001230.1 P51946 substitution synonymous exon GRCh37 86708510 86708510 Chr5(GRCh37):g.86708510G>T 102 102 NM_001239.3:c.102C>A p.Ala34= p.Ala34Ala 1 601953 -16 5' 90.3122 9.15773 0.720265 9.31979 90.3122 9.15773 0.720265 8.91826 0 Cyclin H Cyclin C/H rs138974357 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.003000 0.002900 0.003095 0.000208 0.000756 0.012724 0.000000 0.003089 0.004064 0.002328 0.004338 0.012724 856 5 26 129 0 95 513 60 28 276576 23986 34400 10138 18852 30750 126228 25768 6454 0.000051 0.000000 0.000000 0.000395 0.000000 0.000130 0.000048 0.000000 0.000000 7 0 0 2 0 2 3 0 0 842 5 26 125 0 91 507 60 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8562 4405 12967 38 1 39 0.0044186 0.000226963 0.00299862 0.0044186 0.000226963 0.00299862 77 transversion C A C>A 0.173 -0.279 A Ala GCC 0.403 A Ala GCA 0.226 34 111 PASS . 0.0018 0.0028 . 0.004 . 0.0012 0.0029 . 0.003 0.001 ENSG00000134480:ENST00000256897:exon1:c.C102A:p.A34A CCNH:uc003kjb.3:exon1:c.C102A:p.A34A CCNH:NM_001239:exon1:c.C102A:p.A34A . . 1.0 . . @ 113 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 113.0 . . . 0.0002 0.003 0.0044 0.0002 0.003 0.0044 . 2.1408 . . . . . . . . 2.873e-03 . . . 0.0004 0.0032 0.0003 0 0.0035 0.0051 0.0086 0.0029 0.0005 0.0025 0.0003 0 0.0031 0.0034 0.0059 0.0029 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.57 0.5 182 ENSG00000134480 CCNH CCNH . . . . . . 176 0.00270869 64976 170 0.00283399 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs138974357 . . . . . . . . . . . . . . . . . . . . . . . 0.002999 . . . . . 0.0002 0.0030 0.0008 0.0129 0 0.0022 0.0037 0.0038 0.0031 0.0002 0.0041 0 0.0066 0 0.0029 0.0071 0.0071 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.0044 . . rs138974357 rs138974357 1 1538 255 1.I 0,0,255 +rs149766065 5 94927243 C T - ARSK 25239 Arylsulfatase family, member K NM_198150.2 1 3345 1611 NP_937793.1 Q6UWY0 substitution missense exon GRCh37 94927243 94927243 Chr5(GRCh37):g.94927243C>T 1010 1010 NM_198150.2:c.1010C>T p.Pro337Leu p.Pro337Leu 6 610011 -87 5' 87.3609 X.15 0.992977 0.501832 87.3609 X.15 0.992977 0.501832 0 Sulfatase rs149766065 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.001000 0.001400 0.000685 0.000250 0.000203 0.000000 0.000000 0.001949 0.000900 0.000039 0.000309 0.001949 190 6 7 0 0 60 114 1 2 277184 24024 34418 10152 18866 30782 126680 25794 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 188 6 7 0 0 60 112 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4404 12994 10 2 12 0.00116279 0.000453926 0.000922651 0.00116279 0.000453926 0.000922651 234 transition C T C>T 1.000 5.694 P Pro CCG 0.115 L Leu CTG 0.404 337 11 11 Fruitfly -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C65 0.00 97.78 Deleterious 0 III.39 bad 4.136E-5 0.0002166 255 PASS . 0.0005 . . 0.0013 . 0.0006 0.0014 . 0.001 0.001 . . ARSK:NM_198150:exon6:c.C1010T:p.P337L . . 0.3655914 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.855 . @ . . . . . 1 0.930 . . 93.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P337L|ARSK|mRNA|CODING|NM_198150|NM_198150.ex.6) 0.0005 0.0009 0.0012 0.0005 0.0009 0.0012 . 0.8372 0.689 0.837 c . . . . . 6.551e-04 . . . 0.0003 0.0007 0.0003 0 0 0.0006 0.0028 0.0016 0.0003 0.0007 0.0003 0 0.0002 0.0007 0.0029 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 1.000 . . exonic exonic exonic . . 0.861 0.0006 . . . 0.51 0.59 182 ENSG00000164291 ARSK ARSK . . . 1.0 0.983 . 26 0.000400148 64976 23 0.000383423 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.985 0.805 . . 37 . 1.000 . . 0.976 . . . 0.952 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.982 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.960 . 0.937 . HET 0 rs149766065 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 19.6846 5.35E-4 ENST00000380009 V.63 V.63 . 0.000000 Q6UWY0 . . . 0.000923 . 0.526 . . V.63 0.0002 0.0007 0.0002 0 0 4.484e-05 0.0009 0.0002 0.0019 0.0003 0.0005 0.0012 0 0 0 0.0007 0.0010 . . 0.558 . 2.644 2.644000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.122 0.363 . 0.812 . 0.445 2.644 0.871 0.0013 . . rs149766065 rs149766065 1 1538 10 1/0 0,254,255 +rs137934951 5 95231436 C T - ELL2 17064 Elongation factor, RNA polymerase II, 2 NM_012081.5 -1 6046 1923 NP_036213.2 O00472 substitution intron GRCh37 95231436 95231436 Chr5(GRCh37):g.95231436C>T 1526-41 1526-41 NM_012081.5:c.1526-41G>A p.? p.? 9 8 601874 -41 3' 92.4143 10.1442 0.99834 11.1599 92.4143 10.1442 0.99834 11.V 0 Cryptic Acceptor Strongly Activated 95231432 2.20579 0.044049 66.2939 2.63373 0.089264 66.2939 rs137934951 yes no Frequency/1000G 2 C 0.000000 0 0.008586 0.000000 0.026600 0.001000 0.014900 0.001400 0.009023 0.001507 0.004511 0.017162 0.000590 0.024567 0.009600 0.004236 0.009428 0.024567 2462 36 152 171 11 721 1202 109 60 272856 23894 33694 9964 18650 29348 125212 25730 6364 0.000183 0.000000 0.000000 0.000000 0.000000 0.001022 0.000128 0.000155 0.000000 25 0 0 0 0 15 8 2 0 2412 36 152 171 11 691 1186 105 60 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8515 4403 12918 85 3 88 0.00988372 0.00068089 0.00676611 0.00988372 0.00068089 0.00676611 42 transition G A G>A 0.000 0.044 255 PASS . 0.01 0.0028 . 0.02 . 0.0086 0.0014 0.001 0.015 0.027 . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||ELL2|mRNA|CODING|NM_012081|) 0.0007 0.0068 0.0099 0.0007 0.0068 0.0099 . 0.5118 . . . . . . . . . . . . 0.0011 0.0110 0.0044 0.0005 0.0018 0.0118 0.0156 0.0254 0.0010 0.0103 0.0042 0.0005 0.0021 0.0108 0.0190 0.0254 . . . . . . intronic intronic intronic . . . 0.0086 . . . 0.42 0.3 182 ENSG00000118985 ELL2 ELL2 . . . . . . 563 0.00866474 64976 521 0.00868536 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs137934951 . . . . . . . . . . . . . . . . . . . . . . . 0.006766 . . . . . 0.0013 0.0094 0.0045 0.0173 0.0006 0.0042 0.0096 0.0097 0.0246 0.0018 0.0061 0.0060 0.0132 0 0.0043 0.0094 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs137934951 rs137934951 1 1538 10 1/0 0,255,255 +rs142423997 5 95759173 A G - PCSK1 8743 Proprotein convertase subtilisin/kexin type 1 NM_000439.4 -1 5166 2262 NP_000430.3 P29120 substitution intron GRCh37 95759173 95759173 Chr5(GRCh37):g.95759173A>G 397-10 397-10 NM_000439.4:c.397-10T>C p.? p.? 4 3 162150 -10 3' 92.4026 7.72252 0.974835 6.32878 89.2783 7.32285 0.966743 5.99261 -0.0312893 rs142423997 yes no Frequency/1000G 2 A uncertain_significance 0.000000 0 0.002995 0.000000 0.004100 0.000000 0.008000 0.004300 0.005993 0.000749 0.001135 0.001182 0.000000 0.003642 0.006723 0.022997 0.005423 0.022997 1660 18 39 12 0 112 851 593 35 276972 24034 34358 10152 18860 30752 126576 25786 6454 0.000094 0.000000 0.000000 0.000000 0.000000 0.000130 0.000063 0.000543 0.000000 13 0 0 0 0 2 4 7 0 1634 18 39 12 0 108 843 579 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4401 12967 34 5 39 0.00395349 0.00113482 0.00299862 0.00395349 0.00113482 0.00299862 71 RCV000395733.1|RCV000307699.1 germline|germline clinical testing|clinical testing VUS|VUS 1|1 Proprotein convertase 1/3 deficiency|Monogenic Non-Syndromic Obesity transition T C T>C 0.047 0.609 255 PASS . 0.01 0.01 . 0.01 . 0.003 0.0043 . 0.008 0.0041 . . . . . 0.6 . . germline 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance//\%//\@Uncertain//\@significance Uncertain_significance|Uncertain_significance RCV000307699.1|RCV000395733.1 Monogenic_Non-Syndromic_Obesity|Proprotein_convertase_1/3_deficiency MedGen|MedGen:OMIM:Orphanet CN239457|C1833053:600955:ORPHA71528 2 . . . 45.0 . . . 0.0011 0.003 0.004 0.0011 0.003 0.004 . 0.7472 . . . . . . . . 5.848e-03 . . . 0.0008 0.0045 0.0012 0.0002 0.0284 0.0051 0.0071 0.0031 0.0009 0.0058 0.0013 0 0.0270 0.0066 0.0088 0.0032 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0030 . . . 0.24 0.44 182 ENSG00000251314 PCSK1 LOC101929710 . . . . . . 402 0.0061869 64976 387 0.00645151 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142423997 . . . . . . . . . . . . . . . . . . . . 0.0003 0.008 . 0.002999 . . . . II.21 0.0007 0.0057 0.0011 0.0012 0 0.0233 0.0062 0.0044 0.0036 0.0009 0.0082 0.0012 0 0 0.0212 0.0106 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs142423997 rs142423997 1 1538 10 1/0 0,255,255 +rs78649652 5 96124373 C T - ERAP1 18173 Endoplasmic reticulum aminopeptidase 1 NM_001349244.1 -1 5580 2847 NP_001336173.1 substitution missense exon GRCh37 96124373 96124373 Chr5(GRCh37):g.96124373C>T 1540 1540 NM_001349244.1:c.1540G>A p.Gly514Arg p.Gly514Arg 11 606832 16 3' 71.4588 2.72936 0.042742 1.13784 71.4588 2.72936 0.051531 1.13644 0.068543 rs78649652 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.005100 0.000000 0.010900 0.011500 0.006312 0.002082 0.005757 0.003450 0.000053 0.003933 0.009576 0.003536 0.006190 0.009576 1748 50 198 35 1 121 1212 91 40 276948 24018 34390 10146 18866 30768 126562 25736 6462 0.000051 0.000000 0.000058 0.000000 0.000000 0.000000 0.000079 0.000078 0.000000 7 0 1 0 0 0 5 1 0 1734 50 196 35 1 121 1202 89 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4393 12898 95 13 108 0.0110465 0.00295052 0.00830386 0.0110465 0.00295052 0.00830386 110 COSM4407090 Liver 0.000422 2371 transition G A G>A 0.008 1.174 G Gly GGG 0.250 R Arg AGG 0.207 514 12 4 Baker's yeast -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 186.24 13.17 Tolerated 0.54 II.96 255 PASS . 0.01 0.01 . 0.01 . 0.0048 0.011 . 0.011 0.0051 . . . . . 0.43023255 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.307 . @ . . . . . 1 0.188 . . 86.0 . . . 0.003 0.0083 0.011 0.003 0.0083 0.011 . -0.3986 -0.392 -0.399 c . . . . . 6.164e-03 . . . 0.0024 0.0064 0.0058 0 0.0048 0.0095 0.0071 0.0041 0.0024 0.0060 0.0059 0 0.0041 0.0082 0.0089 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.048 . . exonic exonic exonic . . 0.387 0.0048 . . . 0.56 0.29 182 ENSG00000164307 ERAP1 ERAP1 . . . 0.994 0.335 . 609 0.00937269 64976 585 0.00975228 59986 Uncertain_significance . 0 . 0.099 . . . . . . . . . 37 . 0.075 . . 0.450 . . . 0.763 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.277 . . 0.289 . . . . . . 0 0.072 . . . . . 0.321 . 0.326 . HET 0.14 rs78649652 . . . . . . . 0.005952380952380952 0.0 0.008287292817679558 0.0 0.013192612137203167 VIII.37 0.00214 . VI.17 III.47 . 0.590000 . . . . 0.008304 . 0.129 . . III.47 0.0020 0.0064 0.0058 0.0035 5.799e-05 0.0033 0.0097 0.0058 0.0039 0.0022 0.0057 0.0060 0.0033 0 0.0049 0.0085 0.0081 . . 0.609 . 0.949 0.949000 . . 0.590000 . . 1.0E-255 0.003 0.159 . 0.359 0.076 . 0.352 . 0.490 0.949 0.871 0.011 . . rs78649652 rs78649652 1 1538 10 1/0 0,255,255 +rs147243219 (chr5:96208940 T/G) 5 96208940 T G Not on a known gene +rs201630000 (chr5:99728376 C/T) 5 99728376 C T Not on a known gene +rs116647695 5 110407124 G A - TSLP 30743 Thymic stromal lymphopoietin NM_033035.4 1 2629 480 NP_149024.1 Q969D9 substitution upstream GRCh37 110407124 110407124 Chr5(GRCh37):g.110407124G>A -465 -465 NM_033035.4:c.-465G>A p.? p.? 1 607003 -636 5' 87.9846 9.65245 0.993966 0 87.9846 9.65245 0.993966 0 0 rs116647695 yes no Frequency/1000G 2 G 0.000000 0 0.008387 0.012100 0.013300 0.000000 0.008000 0.007200 0.009047 0.017190 0.002387 0.003311 0.000000 0.000000 0.007805 0.000859 0.007128 0.017190 280 150 2 1 0 0 117 3 7 30950 8726 838 302 1620 0 14990 3492 982 0.003571 0.006667 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 278 148 2 1 0 0 117 3 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.360 255 PASS 0.02 0.01 0.01 . 0.0026 0.012 0.0084 0.0072 . 0.008 0.013 . . . . . 0.5443038 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.1339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.0084 . . . 0.37 0.67 182 ENSG00000145777 TSLP TSLP ENST00000420978:c.-58G>A . . . . . 412 0.0063408 64976 370 0.00616811 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116647695 0.022 0.014 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830447 . . . . . . . . . . . . . . . 0.0172 0.0090 0.0024 0.0033 0 0.0009 0.0078 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs116647695 rs116647695 1 1538 10 1/0 0,255,255 +rs2229994 5 112178492 C T - APC 583 APC, WNT signaling pathway regulator NM_001354896.1 1 10784 8586 NP_001341825.1 substitution synonymous exon GRCh37 112178492 112178492 Chr5(GRCh37):g.112178492C>T 7255 7255 NM_001354896.1:c.7255C>T p.Leu2419= p.Leu2419Leu 17 611731 5243 3' 93.5566 7.52626 0.809109 5.87243 93.5566 7.52626 0.809109 5.87243 0 rs2229994 yes no Frequency/HapMap/1000G 3 C uncertain_significance,benign,likely_benign 0.000000 0 0.009900 0.008542 0.011229 0.023532 0.000053 0.002438 0.013547 0.001863 0.011957 0.023532 2731 205 386 238 1 75 1701 48 77 275872 24000 34376 10114 18846 30766 125566 25764 6440 0.000174 0.000000 0.000291 0.001384 0.000000 0.000000 0.000191 0.000000 0.000000 24 0 5 7 0 0 12 0 0 2683 205 376 224 1 75 1677 48 77 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8481 4371 12852 119 33 152 0.0138372 0.00749319 0.0116887 0.0138372 0.00749319 0.0116887 71 RCV000119165.4|RCV000128900.2|RCV000035082.4|RCV000303809.1 germline|germline|germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Benign|Benign|Likely benign 1|2|2|1 Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not specified|APC-Associated Polyposis Disorders COSM6476031 Large intestine 0.000082 12240 transition C T C>T 0.504 0.528 L Leu CTA 0.070 L Leu TTA 0.073 2419 255 PASS 0.01 0.01 0.01 . 0.02 . . . . . . . . . . . 0.45454547 . . germline 15 . . 1.2.2016 0 0 0 0 1 0 1 1 1 0 0 0 . . . . . . . . Benign//\%//\@Benign//\%//\@Benign//\%//\@Likely//\@benign Benign|Benign|Benign|Likely_benign RCV000035082.3|RCV000119165.3|RCV000128900.2|RCV000303809.1 not_specified|Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders MedGen|MedGen:OMIM|MedGen:SNOMED_CT|MedGen CN169374|C2713442:175100|C0027672:699346009|CN239210 2 . . . 33.0 . . . 0.0075 0.012 0.014 0.0075 0.012 0.014 . I.39 . . . . . . . . 9.613e-03 . . . 0.0089 0.0109 0.0102 0 0.0018 0.0171 0.0155 0.0025 0.0089 0.0092 0.0101 0 0.0020 0.0132 0.0159 0.0025 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.34 182 ENSG00000134982 APC APC . . . . . . 896 0.0137897 64976 849 0.0141533 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2229994 . . . CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dnot_specified|Adenomatous_polyposis_coli|Neoplastic_Syndromes\x2c_Hereditary\x3bCLNREVSTAT\x3dsingle|single|single\x3bCLNACC\x3dRCV000035082.1|RCV000119165.1|RCV000128900.1\x3bCLNDSDB\x3d.|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3d.|NBK1345:CN074282:175100:ORPHA733:70921007|C0027672 CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dnot_specified|Adenomatous_polyposis_coli|Hereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dsingle|single|single\x3bCLNACC\x3dRCV000035082.2|RCV000119165.1|RCV000128900.2\x3bCLNDSDB\x3dMedGen|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:SNOMED_CT\x3bCLNDSDBID\x3dCN169374|NBK1345:CN074282:175100:ORPHA733:70921007|C0027672:699346009 CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dnot_specified|Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000035082.2|RCV000119165.1|RCV000128900.2\x3bCLNDSDB\x3dMedGen|GeneReviews:MedGen:OMIM:Orphanet|MedGen:SNOMED_CT\x3bCLNDSDBID\x3dCN169374|NBK1345:C2713442:175100:ORPHA733|C0027672:699346009 . . . . . . . . . . . . . . . . . 0.011689 . . . . 3.II 0.0079 0.0099 0.0112 0.0233 5.805e-05 0.0019 0.0138 0.0125 0.0024 0.0096 0.0096 0.0119 0.0298 0 0.0017 0.0119 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs2229994 rs2229994 rs2229994 rs2229994 1 1538 10 1/0 0,255,255 +rs77180725 5 112870101 C T - YTHDC2 24721 YTH domain containing 2 NM_022828.3 1 6308 4293 NP_073739.3 Q9H6S0 substitution synonymous exon GRCh37 112870101 112870101 Chr5(GRCh37):g.112870101C>T 942 942 NM_022828.3:c.942C>T p.Ile314= p.Ile314Ile 6 616530 -4 5' 83.1053 VIII.62 0.996565 0 83.1053 VIII.62 0.995162 0 -0.000469279 DNA/RNA helicase, DEAD/DEAH box type, N-terminal DEAD-like helicase rs77180725 yes no Frequency/1000G 2 C 0.000000 0 0.006190 0.020400 0.003100 0.000000 0.000000 0.001400 0.002155 0.021775 0.000756 0.000099 0.000000 0.001234 0.000039 0.000000 0.000620 0.021775 597 523 26 1 0 38 5 0 4 276998 24018 34386 10150 18864 30782 126586 25758 6454 0.000036 0.000416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 5 5 0 0 0 0 0 0 0 587 513 26 1 0 38 5 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4311 12910 1 93 94 0.000116279 0.0211172 0.00722855 0.000116279 0.0211172 0.00722855 205 transition C T C>T 1.000 1.416 I Ile ATC 0.481 I Ile ATT 0.356 314 255 PASS 0.02 0.0046 . . . 0.02 0.0062 0.0014 . . 0.0031 . . YTHDC2:NM_022828:exon6:c.C942T:p.I314I . . 0.5686275 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I314|YTHDC2|mRNA|CODING|NM_022828|NM_022828.ex.6) 0.021 0.0072 0.0001 0.021 0.0072 0.0001 . I.00 . . . . . . . . 2.170e-03 . . . 0.0230 0.0030 0.0004 0 0 4.747e-05 0 0.0015 0.0223 0.0022 0.0004 0 0 1.84e-05 0 0.0013 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0062 . . . 0.37 0.67 182 ENSG00000047188 YTHDC2 YTHDC2 . . . . . . 36 0.000554051 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77180725 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.007229 . . . . . 0.0227 0.0017 0.0008 0 0 0 4.48e-05 0.0004 0.0012 0.0201 0.0058 0 0.0033 0 0 0 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs77180725 rs77180725 1 1538 10 1/0 0,255,255 +rs114923042 5 115628237 G T - COMMD10 30201 COMM domain containing 10 NM_016144.3 1 1487 609 NP_057228.1 Q9Y6G5 substitution 3'UTR GRCh37 115628237 115628237 Chr5(GRCh37):g.115628237G>T *51 *51 NM_016144.3:c.*51G>T p.? p.? 7 616704 90 3' 72.3849 7.65182 0.708551 4.04132 72.3849 7.65182 0.708551 4.04132 0 Cryptic Acceptor Strongly Activated 115628246 5.22586 0.652782 78.5585 V.33 0.930964 84.0112 rs114923042 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.001000 0.000000 0.006000 0.004300 0.004909 0.001643 0.004646 0.009462 0.000000 0.000471 0.007497 0.001705 0.003885 0.009462 1178 37 117 82 0 11 871 39 21 239944 22514 25182 8666 15780 23348 116176 22872 5406 0.000058 0.000000 0.000000 0.000231 0.000000 0.000086 0.000086 0.000000 0.000000 7 0 0 1 0 1 5 0 0 1164 37 117 80 0 9 861 39 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4394 12920 74 10 84 0.00860465 0.00227066 0.00645955 0.00860465 0.00227066 0.00645955 147 transversion G T G>T 0.024 0.044 255 PASS . 0.0027 . . 0.01 . 0.002 0.0043 . 0.006 0.001 . . . . . 0.53333336 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . 0.0023 0.0065 0.0086 0.0023 0.0065 0.0086 . 0.6719 . . . . . . . . 4.816e-03 . . . 0.0018 0.0045 0.0046 0 0.0008 0.0075 0.0070 0.0007 0.0019 0.0046 0.0047 0 0.0015 0.0073 0.0043 0.0007 . . . . . . UTR3 UTR3 UTR3 . . . 0.0020 . . . 0.68 0.66 182 ENSG00000145781 COMMD10 COMMD10 . uc003krt.1:c.*51G>T . . . . 376 0.00578675 64976 366 0.00610142 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114923042 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006460 . . . . . 0.0016 0.0050 0.0046 0.0093 0 0.0016 0.0076 0.0041 0.0005 0.0017 0.0043 0.0048 0.0134 0 0.0021 0.0065 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs114923042 rs114923042 1 1538 10 1/0 0,255,255 +rs200658031 5 118310290 C T - DTWD2 19334 DTW domain containing 2 NM_173666.3 -1 5834 897 NP_775937.1 Q8NBA8 substitution intron GRCh37 118310290 118310290 Chr5(GRCh37):g.118310290C>T 218+13699 218+13699 NM_173666.3:c.218+13699G>A p.? p.? 1 1 13699 5' 77.1631 6.53894 0.290578 12.0759 77.1631 6.53894 0.290578 12.0759 0 rs200658031 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000041 1 0 1 0 0 0 0 0 0 234484 22838 24476 7484 16584 23486 110466 23872 5278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 0.528 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 36.0 . . . . . . . . . . 0.8345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.46 0.25 182 ENSG00000169570 MIR1244-2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200658031 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv882767 . . . . . . 0 4.898e-06 4.228e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs200658031 rs200658031 1 1538 10 1/0 0,255,255 +rs200658031 5 118310290 C T - MIR1244-2 38321 MicroRNA 1244-2 NR_036262.1 1 85 0 substitution exon GRCh37 118310290 118310290 Chr5(GRCh37):g.118310290C>T 10 10 NR_036262.1:n.10C>T 1 rs200658031 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000041 1 0 1 0 0 0 0 0 0 234484 22838 24476 7484 16584 23486 110466 23872 5278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 1.000 0.528 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 36.0 . . . . . . . . . . 0.8345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.46 0.25 182 ENSG00000169570 MIR1244-2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200658031 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv882767 . . . . . . 0 4.898e-06 4.228e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs200658031 rs200658031 1 1538 10 1/0 0,255,255 +rs485847 5 122685801 G A - CEP120 26690 Centrosomal protein 120kDa NM_153223.3 -1 4711 2961 NP_694955.2 Q8N960 substitution intron GRCh37 122685801 122685801 Chr5(GRCh37):g.122685801G>A 2581-18 2581-18 NM_153223.3:c.2581-18C>T p.? p.? 20 19 613446 -18 3' 85.1776 6.90306 0.907914 5.66583 85.1776 6.60839 0.942516 5.82219 -0.00152537 rs485847 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999977 1.000000 1.000000 1.000000 1.000000 0.999964 0.999968 1.000000 0.999836 1.000000 264772 23768 31020 9520 17972 27749 123156 25480 6107 264778 23768 31020 9520 17972 27750 123160 25480 6108 0.999955 1.000000 1.000000 1.000000 1.000000 0.999928 0.999935 1.000000 0.999673 132383 11884 15510 4760 8986 13874 61576 12740 3053 6 0 0 0 0 1 4 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.682 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.2286 . . . . . . . . 1.00 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.41 0.24 182 ENSG00000168944 CEP120 CEP120 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs485847 1.000 1.000 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830472 . . . . . . 1 1.0000 1 1 1 1 1.0000 0.9998 1.0000 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs485847 rs485847 rs485847 rs485847 1 1538 255 1.I 0,0,255 +. 5 127419776 G A - LINC01184 49565 Long intergenic non-protein coding RNA 1184 NR_015360.1 -1 2954 0 substitution upstream GRCh37 127419776 127419776 Chr5(GRCh37):g.127419776G>A -1010 -1010 NR_015360.1:n.-1010C>T p.? p.? 1 -1115 5' 81.7977 8.41759 0.949216 7.88601 81.7977 8.41759 0.949216 7.88601 0 transition C T C>T 0.969 1.577 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.333 . @ . . . . . 1 0.885 . . 11.0 . . . . . . . . . . -0.4748 -0.342 -0.475 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.858 . . exonic exonic exonic . . 0.435 @ . . . . . . ENSG00000064651 SLC12A2 SLC12A2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . D 0.998 0.965 . . 37 . 0.748 . . 0.657 . . . 0.387 0.293 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.204 . . 0.253 . . . . . . 0 0.546 . . . . . 0.465 . 0.302 . HET 0.03 . . . . . . . . . . . . . X.34 . . III.86 III.86 . 0.230000 . . . Name\x3dnsv4993 . . 0.272 . . III.86 . . . . . . . . . . . . . . . . . . . 0.211 . 1.674 1.674000 . . 0.230000 . . 1.0E-255 0.027 0.200 . 0.276 0.468 . 0.348 . 0.298 1.674 0.809 . . . . . 1 1538 10 1/0 0,255,255 +. 5 127419776 G A - SLC12A2 10911 Solute carrier family 12 (sodium/potassium/chloride transporter), member 2 NM_001046.2 1 6860 3639 NP_001037.1 P55011 substitution missense exon GRCh37 127419776 127419776 Chr5(GRCh37):g.127419776G>A 130 130 NM_001046.2:c.130G>A p.Glu44Lys p.Glu44Lys 1 600840 -627 5' 89.5524 9.59704 0.985418 14.4326 89.5524 9.59704 0.985418 14.4326 0 Cryptic Acceptor Strongly Activated 127419779 0.000102 67.2435 IV.89 0.007181 68.0981 transition G A G>A 0.969 1.577 E Glu GAG 0.583 K Lys AAG 0.575 44 12 4 Mouse 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.333 . @ . . . . . 1 0.885 . . 11.0 . . . . . . . . . . -0.4748 -0.342 -0.475 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.858 . . exonic exonic exonic . . 0.435 @ . . . . . . ENSG00000064651 SLC12A2 SLC12A2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . D 0.998 0.965 . . 37 . 0.748 . . 0.657 . . . 0.387 0.293 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.204 . . 0.253 . . . . . . 0 0.546 . . . . . 0.465 . 0.302 . HET 0.03 . . . . . . . . . . . . . X.34 . . III.86 III.86 . 0.230000 . . . Name\x3dnsv4993 . . 0.272 . . III.86 . . . . . . . . . . . . . . . . . . . 0.211 . 1.674 1.674000 . . 0.230000 . . 1.0E-255 0.027 0.200 . 0.276 0.468 . 0.348 . 0.298 1.674 0.809 . . . . . 1 1538 10 1/0 0,255,255 +. 5 127512817 A T - SLC12A2 10911 Solute carrier family 12 (sodium/potassium/chloride transporter), member 2 NM_001046.2 1 6860 3639 NP_001037.1 P55011 substitution missense exon GRCh37 127512817 127512817 Chr5(GRCh37):g.127512817A>T 2950 2950 NM_001046.2:c.2950A>T p.Thr984Ser p.Thr984Ser 21 600840 21 3' 59.5542 3.46348 0.002018 0 59.5542 3.46348 0.002018 0 0 Na/K/Cl co-transporter superfamily transversion A T A>T 1.000 2.142 T Thr ACT 0.243 S Ser TCT 0.185 984 12 8 Baker's yeast 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 229.24 0.00 Tolerated 0.49 III.14 good 9.137E-1 0.3286 239 PASS . . . . . . . . . . . . SLC12A2:uc003kus.3:exon21:c.A2950T:p.T984S SLC12A2:NM_001046:exon21:c.A2950T:p.T984S . . 0.28 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.130 . @ . . . . . 1 0.151 . . 25.0 . . . . . . . . . . -0.2830 -0.040 -0.283 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.846 . . exonic exonic exonic . . 0.691 @ . . . . . . ENSG00000064651 SLC12A2 SLC12A2 . . . 0.971 0.292 . . . . . . . Uncertain_significance . 0 . 0.330 . . . . T 0.462 0.023 . . 37 . 0.673 . . 0.627 . . . 0.351 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.119 . . 0.104 . . . . . . 1 0.038 . . . . . 0.506 . 0.155 . HET 0.54 . . . . . . . . . . . . . XI.89 . ENST00000262461 5.XI 5.XI . 0.640000 P55011 . . Name\x3dnsv830482 . . 0.476 . . 5.XI . . . . . . . . . . . . . . . . . . . 0.924 . 2.270 2.270000 . . 0.640000 . . 1.0E-239 1.000 0.715 . 0.888 1.000 . 0.571 . 0.893 2.270 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs146849637 5 127782297 C T - FBN2 3604 Fibrillin 2 NM_001999.3 -1 10724 8739 NP_001990.2 P35556 substitution missense exon GRCh37 127782297 127782297 Chr5(GRCh37):g.127782297C>T 829 829 NM_001999.3:c.829G>A p.Val277Ile p.Val277Ile 7 612570 3 3' 95.2467 X.03 0.990892 8.51154 95.2467 X.55 0.991552 7.90082 -0.00769187 EGF-like calcium-binding Epidermal growth factor-like, type 3 Fibrillin rs146849637 yes no Frequency/1000G 2 C uncertain_significance,likely_benign 0.000000 0 0.000998 0.000800 0.000000 0.000000 0.002000 0.002900 0.001688 0.000957 0.000523 0.000000 0.000000 0.000000 0.003070 0.001319 0.000619 0.003070 468 23 18 0 0 0 389 34 4 277186 24040 34420 10150 18870 30782 126690 25770 6464 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 466 23 16 0 0 0 389 34 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4401 12968 33 5 38 0.00383721 0.00113482 0.00292173 0.00383721 0.00113482 0.00292173 104 RCV000195579.6|RCV000204651.4|RCV000252317.1|RCV000514077.1 germline|germline|germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|Likely benign|VUS|Likely benign 1|2|1|1 not specified|Congenital contractural arachnodactyly|Thoracic aortic aneurysm and aortic dissection|not provided transition G A G>A 1.000 5.694 V Val GTT 0.178 I Ile ATT 0.356 277 11 8 Cow 3 3 4 0 0 5.IX 5.II 84 111 29 C0 227.53 28.68 Tolerated 0.08 IV.32 good 1.437E-1 0.007585 255 PASS . 0.0009 0.0028 . 0.0013 0.0008 0.001 0.0029 . 0.002 . . . FBN2:NM_001999:exon7:c.G829A:p.V277I . . 0.5 . . germline 14 . . 1.2.2016 0 0 0 0 0 0 1 0 0 0 0 0 . . . . . . 0.354 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Likely//\@benign//\%//\@Uncertain//\@significance other|Likely_benign|Uncertain_significance RCV000195579.4|RCV000204651.3|RCV000252317.1 not_specified|Congenital_contractural_arachnodactyly|Thoracic_aortic_aneurysm_and_aortic_dissection MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet CN169374|C0220668:121050:ORPHA115:205821003|CN118826:ORPHA91387 1 0.250 . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V277I|FBN2|mRNA|CODING|NM_001999|NM_001999.ex.7) 0.0011 0.0029 0.0038 0.0011 0.0029 0.0038 . 0.0862 0.242 0.086 c . . . . . 1.792e-03 . . . 0.0011 0.0017 0.0003 0 0.0018 0.0031 0.0014 0 0.0012 0.0016 0.0003 0 0.0021 0.0026 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.930 . . exonic exonic exonic . . 0.613 0.0010 . . . 0.57 0.43 182 ENSG00000138829 FBN2 FBN2 . . . 1.000 0.747 . 194 0.00298572 64976 189 0.00315074 59986 Uncertain_significance . 0 . 0.292 . . . . D 0.847 0.168 . . 37 . 0.875 . . 0.840 . . . 0.017 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.202 . . 0 0 0 0 1 0 . 0.629 . . 0.769 . . . . . . 0 0.082 . . . . . 0.876 . 0.354 . HET 0.49 rs146849637 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 17.5047 0.00107 . IV.81 IV.81 . 0.870000 . . . . 0.002922 . 0.661 . . IV.81 0.0010 0.0016 0.0005 0 0 0.0014 0.0030 0.0005 0 0.0008 0.0021 0.0012 0 0 0.0006 0.0035 0.0010 . . 0.609 . 2.613 2.613000 . . 0.870000 . . 1.0E-255 1.000 0.715 . 0.888 0.993 . 0.707 . 0.490 2.613 0.824 0.0038 . . rs146849637 rs146849637 1 1538 10 1/0 0,255,255 +rs780761195 5 131309007 G A - ACSL6 16496 Acyl-CoA synthetase long-chain family member 6 NM_001009185.2 -1 6539 2169 NP_001009185.1 substitution synonymous exon GRCh37 131309007 131309007 Chr5(GRCh37):g.131309007G>A 1155 1155 NM_001009185.2:c.1155C>T p.Pro385= p.Pro385Pro 12 604443 -49 5' 99.6933 X.84 0.998453 XI.46 99.6933 X.84 0.998453 11.621 0 AMP-dependent synthetase/ligase rs780761195 yes no Frequency 1 G 0.000000 0 0.000119 0.000000 0.000000 0.000000 0.000000 0.000000 0.000206 0.000233 0.000155 0.000233 33 0 0 0 0 0 26 6 1 276828 24004 34402 10132 18866 30780 126396 25786 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 0 0 0 0 0 26 6 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.984 -0.037 P Pro CCC 0.328 P Pro CCT 0.283 385 255 PASS . . . . . . . . . . . . . . . . 0.41284403 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . 1.0645 . . . . . . . . 1.184e-04 . . . 0 6.649e-05 0 0 0.0003 0.0001 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000164398 ACSL6 ACSL6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs780761195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.58 0 0.0001 0 0 0 0.0003 0.0002 0 0 0 0.0001 0 0 0 0 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 5 133725906 T TTCC - UBE2B 12473 Ubiquitin-conjugating enzyme E2B NM_003337.3 1 2634 459 NP_003328.1 P63146 duplication splice site GRCh37 133725913 133725914 Chr5(GRCh37):g.133725911_133725913dup 331-5 331-3 NM_003337.3:c.331-5_331-3dup p.? p.? 6 5 179095 -2 3' 82.0028 10.0398 0.995025 X.38 78.4863 IX.05 0.990716 XI.97 -0.0203611 rs765369210 yes no Frequency 1 0.000000 0 0.000191 0.000000 0.000000 0.000000 0.000000 0.000000 0.000419 0.000000 0.000000 0.000419 53 0 0 0 0 0 53 0 0 276858 24020 34420 10144 18856 30778 126496 25688 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 0 0 0 0 0 53 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8251 4264 12515 3 0 3 0.00036346 0 0.000239655 0.00036346 0 0.000239655 40 CCT 255 Pass . . . . . . . . . . . . . . . . 0.5106383 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . INTRON(MODIFIER||||UBE2B|mRNA|CODING|NM_003337|) . 0.0002 0.0004 . 0.0002 0.0004 . . . . . . . . . . 1.657e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000119048 UBE2B UBE2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs765369210 . . . . . . . . . . . . . . . . . . . . . . . 0.000240 . . . . . 0 0.0002 0 0 0 0 0.0004 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . . . 1 1538 10 1.I 0,12,29 +. 5 134211055 GA G - TXNDC15 20652 Thioredoxin domain containing 15 NM_024715.3 1 3689 1083 NP_078991.3 Q96J42 deletion intron GRCh37 134211056 134211056 Chr5(GRCh37):g.134211056del 103+836 103+836 NM_024715.3:c.103+836del p.? p.? 1 1 617778 836 5' 86.3702 9.25272 0.980672 X.84 86.3702 9.25272 0.980672 X.84 0 Cryptic Acceptor Strongly Activated 134211062 0.00035 2.26963 0.000841 68.7651 rs556892469 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000000 0.008200 0.001000 0.002000 0.001400 0.006222 0.001511 0.004047 0.000490 0.000087 0.012431 0.008688 0.001135 0.005367 0.012431 961 22 99 4 1 279 522 10 24 154462 14556 24460 8164 11470 22444 60084 8812 4472 0.000104 0.000000 0.000164 0.000000 0.000000 0.000446 0.000033 0.000000 0.000000 8 0 2 0 0 5 1 0 0 945 22 95 4 1 269 520 10 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes A 255 Pass . . . . . . 0.0024 0.0014 0.001 0.002 0.0082 ENSG00000113621:ENST00000546290:exon1:c.5delA:p.E2fs . . . . 0.31325302 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 83 . . INTRON(MODIFIER||||TXNDC15|mRNA|CODING|NM_024715|) . . . . . . . . . . . . . . . . 8.025e-03 . . . 0.0053 0.0115 0.0109 0 0 0.0029 0.0085 0.0148 0.0053 0.0114 0.0111 0 0 0.0030 0.0085 0.0148 frameshift_deletion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000113621 TXNDC15 TXNDC15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs556892469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0067 0.0040 0.0005 0.0001 0.0011 0.0090 0.0066 0.0124 0.0011 0.0044 0.0060 0 0 0.0011 0.0077 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,50 +rs115460101 5 134211057 G T - TXNDC15 20652 Thioredoxin domain containing 15 NM_024715.3 1 3689 1083 NP_078991.3 Q96J42 substitution intron GRCh37 134211057 134211057 Chr5(GRCh37):g.134211057G>T 103+837 103+837 NM_024715.3:c.103+837G>T p.? p.? 1 1 617778 837 5' 86.3702 9.25272 0.980672 X.84 86.3702 9.25272 0.980672 X.84 0 Cryptic Acceptor Strongly Activated 134211062 0.00035 2.99816 0.009735 72.8307 rs115460101 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.008200 0.001000 0.002000 0.001400 0.006222 0.001512 0.004047 0.000490 0.000087 0.012431 0.008688 0.001135 0.005367 0.012431 961 22 99 4 1 279 522 10 24 154452 14548 24460 8164 11470 22444 60086 8808 4472 0.000104 0.000000 0.000164 0.000000 0.000000 0.000446 0.000033 0.000000 0.000000 8 0 2 0 0 5 1 0 0 945 22 95 4 1 269 520 10 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 0.044 255 PASS . . . . . . 0.0024 0.0014 0.001 0.002 0.0082 ENSG00000113621:ENST00000546290:exon1:c.G6T:p.E2D . . . . 0.32911393 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||TXNDC15|mRNA|CODING|NM_024715|) . . . . . . . -0.6617 . . . . . . . . 8.030e-03 . . . 0.0053 0.0115 0.0109 0 0 0.0029 0.0085 0.0148 0.0053 0.0114 0.0111 0 0 0.0030 0.0085 0.0148 nonsynonymous_SNV . . . . . exonic intronic intronic . . . 0.0024 . . . 0.44 0.35 182 ENSG00000113621 TXNDC15 TXNDC15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115460101 . . . . . . . . . . . . II.35 . ENST00000508779 II.17 0.232 . 0.000000 . . . . . . . . . . 0.0021 0.0067 0.0040 0.0005 0.0001 0.0011 0.0090 0.0066 0.0124 0.0011 0.0044 0.0060 0 0 0.0011 0.0077 0.0010 . . . . 0.041 0.041000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.041 . . . . rs115460101 rs115460101 1 1538 10 1/0 0,255,255 +rs1048959 5 137143989 C T - NPY6R 7959 Neuropeptide Y receptor Y6 (pseudogene) NR_002713.3 1 2988 0 substitution exon GRCh37 137143989 137143989 Chr5(GRCh37):g.137143989C>T 537 537 NR_002713.3:n.537C>T 2 601770 277 3' 89.7127 X.34 0.962851 6.08479 89.7127 X.34 0.962851 6.08479 0 Cryptic Acceptor Strongly Activated 137144000 6.57835 0.855797 78.0285 7.73888 0.882522 81.8399 rs1048959 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002278 0.000067 0.000081 0.002260 0.000000 0.000044 0.004424 0.002922 0.003777 0.004424 381 1 2 19 0 1 309 31 18 167226 14910 24592 8408 11544 22552 69846 10608 4766 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 2 0 0 0 0 0 2 0 0 377 1 2 19 0 1 305 31 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.125 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . NPY6R:uc011cyf.2:exon2:c.C90T:p.P30P . . . 0.4074074 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P179|NPY6R|Non-coding_transcript|NON_CODING|NR_002713|NR_002713.ex.2) . . . . . . . 0.3099 . . . . . . . . 1.230e-03 . . . 0 0.0015 0 0 0 0.0039 0 0.0001 0 0.0014 0 0 0.0023 0.0037 0 0.0001 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0002 . . . 0.62 0.38 182 ENSG00000226306 NPY6R NPY6R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1048959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0017 8.42e-05 0.0022 0 0.0034 0.0034 0.0021 4.434e-05 0.0001 0.0046 0 0.0033 0 0.0020 0.0083 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 rs1048959 rs1048959 rs1048959 rs1048959 1 1538 10 1/0 0,255,255 +. 5 138704476 G A - PAIP2 17970 Poly(A) binding protein interacting protein 2 NM_001033112.2 1 1515 384 NP_001028284.1 Q9BPZ3 substitution missense exon GRCh37 138704476 138704476 Chr5(GRCh37):g.138704476G>A 373 373 NM_001033112.2:c.373G>A p.Gly125Arg p.Gly125Arg 4 605604 55 3' 95.5669 X.62 0.993209 8.11259 95.5669 X.62 0.993209 7.69167 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246054 15304 33550 9846 17240 30752 111600 22286 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition G A G>A 0.992 2.223 G Gly GGA 0.246 R Arg AGA 0.205 125 12 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 258.55 13.17 Tolerated 0.6 III.74 255 PASS . . . . . . . . . . . . . . . . 0.38235295 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.495 . @ . . . . . 1 0.924 . . 34.0 . . . . . . . . . . 0.1575 0.221 0.157 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.828 @ . . . . . . ENSG00000120727 PAIP2 PAIP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.276 . . . . D 0.629 0.047 . . 37 . 0.507 . . 0.582 . . . 0.170 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.219 . . 0 0 0 0 0 0 . 0.764 . . 0.680 . . . . . . 2 0.912 . . . . . 0.524 . 0.352 . HET 0.3 . . . . . . . . . . . . . 12.007 . . V.54 V.54 . 0.040000 Q9BPZ3 . . . . . 0.386 . . V.54 0 4.064e-06 0 0 0 0 8.961e-06 0 0 . . . . . . . . . . 0.830 . 1.116 1.116000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.523 0.997 . 0.448 . 0.238 1.116 0.086 . . . . . 1 1538 10 1/0 0,255,255 +. 5 138704476 G A - SLC23A1 10974 Solute carrier family 23 (nucleobase transporters), member 1 NM_152685.3 -1 2361 1809 NP_689898.2 substitution intron GRCh37 138704476 138704476 Chr5(GRCh37):g.138704476G>A *20-1156 *20-1156 NM_152685.3:c.*20-1156C>T p.? p.? 15 14 603790 -1156 3' 87.4982 10.1612 0.895609 5.89478 87.4982 10.1612 0.895609 5.89478 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246054 15304 33550 9846 17240 30752 111600 22286 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition C T C>T 0.992 2.223 255 PASS . . . . . . . . . . . . . . . . 0.38235295 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.495 . @ . . . . . 1 0.924 . . 34.0 . . . . . . . . . . 0.1575 0.221 0.157 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.828 @ . . . . . . ENSG00000120727 PAIP2 PAIP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.276 . . . . D 0.629 0.047 . . 37 . 0.507 . . 0.582 . . . 0.170 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.219 . . 0 0 0 0 0 0 . 0.764 . . 0.680 . . . . . . 2 0.912 . . . . . 0.524 . 0.352 . HET 0.3 . . . . . . . . . . . . . 12.007 . . V.54 V.54 . 0.040000 Q9BPZ3 . . . . . 0.386 . . V.54 0 4.064e-06 0 0 0 0 8.961e-06 0 0 . . . . . . . . . . 0.830 . 1.116 1.116000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.523 0.997 . 0.448 . 0.238 1.116 0.086 . . . . . 1 1538 10 1/0 0,255,255 +. 5 139739919 C T - SLC4A9 11035 Solute carrier family 4, sodium bicarbonate cotransporter, member 9 NM_001258428.1 1 3400 2952 NP_001245357.1 Q96Q91 substitution missense exon GRCh37 139739919 139739919 Chr5(GRCh37):g.139739919C>T 98 98 NM_001258428.1:c.98C>T p.Thr33Ile p.Thr33Ile 1 610207 -133 5' 100 X.83 0.993553 X.49 100 X.83 0.993553 X.49 0 Cryptic Acceptor Strongly Activated 139739929 2.20845 0.012624 62.0523 3.76229 0.026532 65.335 0.000004 0.000070 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000070 1 1 0 0 0 0 0 0 0 241426 14302 33246 9586 17192 29980 109592 22120 5408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 60 Exomes transition C T C>T 0.000 0.286 T Thr ACC 0.361 I Ile ATC 0.481 33 12 5 Olive baboon -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 233.15 53.46 Tolerated 0.06 III.78 255 PASS . . . . . . . . . . . . . . . . 0.60655737 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.070 . @ . . . . . 1 0.111 . . 61.0 . . . . . . . . . . -1.2401 -1.249 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.794 . . exonic exonic exonic . . 0.242 @ . . . . . . ENSG00000113073 SLC4A9 SLC4A9 . . . 0.998 0.360 . . . . . . . Uncertain_significance . 0 . 0.010 . . . . D 0.675 0.059 . . 37 . 0.619 . . 0.561 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.150 . . 0 0 0 0 0 0 . 0.316 . . 0.290 . . . . . . 0 0.342 . . . . . 0.125 . 0.143 . HET 0.05 . . . . . . . . . . . . . IV.57 . . III.62 I.83 . 0.260000 . . . Name\x3dnsv509090 . . 0.123 . . . 6.992e-05 4.142e-06 0 0 0 0 0 0 0 . . . . . . . . . . 0.059 . 0.516 0.516000 . . 0.260000 . . 1.0E-255 0.000 0.063 . 0.016 0.051 . 0.222 . 0.143 0.516 0.143 . . . . . 1 1538 10 1/0 0,255,255 +. 5 139931628 A AGTC - SRA1 11281 Steroid receptor RNA activator 1 NM_001035235.3 -1 1949 711 NP_001030312.2 Q9HD15 insertion in-frame exon GRCh37 139931628 139931629 Chr5(GRCh37):g.139931628_139931629insGTC 328 329 NM_001035235.3:c.328_329insGAC p.Val110delinsGlyLeu p.Val110delinsGlyLeu 3 603819 -62 5' 84.954 9.04032 0.996692 8.20115 84.954 9.04032 0.996692 8.04939 0 Steroid receptor RNA activator-protein/coat protein complex II, Sec31 rs3085220 yes no Frequency/1000G 2 0.434105 GT 2174 0.000011 0.000000 0.000000 0.000000 0.000000 0.000045 0.000012 0.000000 0.000000 0.000045 2 0 0 0 0 1 1 0 0 184728 13250 25366 7748 11510 22190 82712 17638 4314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes 4559 3109 7668 3373 1098 4471 0.42524 0.260994 0.368317 0.42524 0.260994 0.368317 70 COSM1192026 Central nervous system 0.000420 2383 GAC 255 Pass . . . . . . . . . . . ENSG00000213523:ENST00000336283:exon3:c.328_329insGAC:p.V110delinsGL . SRA1:NM_001035235:exon3:c.328_329insGAC:p.V110delinsGL . . 0.30769232 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 78 . . . . . . 0.26 0.36 0.41 . . . . . . . . . . 1.664e-05 . . . 0 2.656e-05 0 0.0002 0 0 0 7.81e-05 0 2.283e-05 0 0.0002 0 0 0 7.86e-05 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000213523 SRA1 SRA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3085220 . . . . . . ID\x3dCOSM1192026\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . 0 1.083e-05 0 0 0 0 1.209e-05 0 4.507e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs3085220 rs3085220 1 1538 10 1.I 0,10,51 +rs202193903 5 139931629 C G - SRA1 11281 Steroid receptor RNA activator 1 NM_001035235.3 -1 1949 711 NP_001030312.2 Q9HD15 substitution missense exon GRCh37 139931629 139931629 Chr5(GRCh37):g.139931629C>G 328 328 NM_001035235.3:c.328G>C p.Val110Leu p.Val110Leu 3 603819 -63 5' 84.954 9.04032 0.996692 8.20115 84.954 9.04032 0.996692 8.01439 0 Steroid receptor RNA activator-protein/coat protein complex II, Sec31 rs202193903 yes no Frequency 1 C 0.000000 0 0.000264 0.000087 0.000254 0.000000 0.000894 0.000733 0.000127 0.000146 0.000286 0.000894 38 1 5 0 8 13 8 2 1 144098 11530 19674 6230 8948 17726 62796 13692 3502 0.210526 0.000000 0.200000 0.000000 0.125000 0.307692 0.125000 0.500000 0.000000 8 0 1 0 1 4 1 1 0 14 1 2 0 5 0 5 0 1 0 0 0 0 0 0 0 0 0 PASS 99 Exomes CM166798 Autoimmunity 27209085 DM? COSM1166160|COSM1166160|COSM1166160 Upper aerodigestive tract|Large intestine|Kidney 0.008842|0.000448|0.001157 1244|2232|1729 transversion G C G>C 0.945 0.286 V Val GTG 0.468 L Leu CTG 0.404 110 12 3 Northern white-cheeked gibbon 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 274.61 0.00 Tolerated 0.79 III.33 251 PASS . . . . . . . . . . . ENSG00000213523:ENST00000336283:exon3:c.G328C:p.V110L . SRA1:NM_001035235:exon3:c.G328C:p.V110L . . 0.3116883 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.179 . @ . . . . . 1 0.091 . . 77.0 . . . . . . . . . . -0.9521 -0.743 -0.952 c . . . . . 1.346e-03 . . . 0.0005 0.0009 0.0012 0.0018 0.0015 0.0007 0 0.0011 0.0006 0.0011 0.0013 0.0018 0.0009 0.0011 0 0.0011 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.236 @ . . . 0.29 0.34 182 ENSG00000213523 SRA1 SRA1 . . . 1.000 0.420 . . . . . . . Uncertain_significance . 0 . 0.087 . . . . T 0.100 0.004 . . 37 . 0.117 . . 0.321 . . . 0.001 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.010 . . . . . 0.068 . 0.012 . HET 0.79 rs202193903 . . . . . . . . . . . . III.03 . . V.75 I.75 . . Q9HD15 . . . . . 0.083 . . . 8.673e-05 0.0003 0.0003 0 0.0009 0.0001 0.0001 0.0003 0.0007 . . . . . . . . . . 0.522 . 0.800 0.800000 . . . . . 1.0E-251 0.047 0.211 . 0.512 0.384 . 0.092 . 0.196 0.800 -0.857 . . . rs202193903 rs202193903 1 1538 10 1/0 0,255,255 +rs201570076 5 140021265 C T - TMCO6 28814 Transmembrane and coiled-coil domains 6 NM_001300980.1 1 1911 1500 NP_001287909.1 substitution missense exon GRCh37 140021265 140021265 Chr5(GRCh37):g.140021265C>T 214 214 NM_001300980.1:c.214C>T p.Arg72Trp p.Arg72Trp 3 16 3' 76.7292 8.98921 0.605518 8.32714 76.7292 8.98921 0.506468 8.22093 -0.0545263 rs201570076 yes no Frequency 1 C 0.000000 0 0.000181 0.000000 0.000029 0.000099 0.000000 0.000000 0.000341 0.000155 0.000155 0.000341 50 0 1 1 0 0 43 4 1 276236 23760 34398 10128 18842 30766 126126 25778 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 0 1 1 0 0 43 4 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8330 3934 12264 4 0 4 0.000479962 0 0.000326052 0.000479962 0 0.000326052 35 transition C T C>T 0.000 -0.763 R Arg CGG 0.207 W Trp TGG 1.000 72 12 7 Zebrafish -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.01 III.35 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.373 . @ . . . . . 1 0.258 . . 63.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . -1.1362 -1.178 -1.136 c . . . . . 2.391e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0002 0 0 0.0002 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.061 @ . . . 0.59 0.39 182 ENSG00000113119 TMCO6 TMCO6 . . . 1.000 0.747 . 14 0.000215464 64976 14 0.000233388 59986 Uncertain_significance . 0 . 0.110 . . . . T 0.351 0.015 . . 37 . 0.195 . . 0.239 . . . 0.430 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.920 . . 0 0 0 0 0 0 . 0.186 . . 0.145 . . . . . . 3 0.465 . . . . . 0.092 . 0.189 . HET 0 rs201570076 . . . . . . . . . . . . 4.0391 0.0 . V.29 -2.42 . 0.080000 . . . . 0.000326 . 0.193 . . . 0 0.0002 2.98e-05 0.0001 0 0.0001 0.0004 0.0002 0 0 0.0002 0 0 0 0.0003 0.0003 0 . . 0.522 . -0.299 -0.299000 . . 0.080000 . . 1.0E-255 0.000 0.063 . 0.312 0.080 . 0.065 . 0.058 -0.299 -0.670 0.0005 . . rs201570076 rs201570076 1 1538 10 1/0 0,255,255 +rs401565 5 140208495 G C - PCDHA1 8663 Protocadherin alpha 1 NM_018900.3 1 5415 2853 NP_061723.1 Q9Y5I3 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2394+40226 2394+40226 NM_018900.3:c.2394+40226G>C p.? p.? 1 1 606307 40226 5' 87.0783 8.62318 0.993879 0.926245 87.0783 8.62318 0.993879 0.926245 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA2 8668 Protocadherin alpha 2 NM_018905.2 1 5360 2847 NP_061728.1 Q9Y5H9 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2388+31558 2388+31558 NM_018905.2:c.2388+31558G>C p.? p.? 1 1 606308 31558 5' 95.331 X.37 0.996319 6.33975 95.331 X.37 0.996319 6.33975 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA3 8669 Protocadherin alpha 3 NM_018906.2 1 5260 2853 NP_061729.1 Q9Y5H8 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2394+25319 2394+25319 NM_018906.2:c.2394+25319G>C p.? p.? 1 1 606309 25319 5' 83.1949 8.39958 0.985487 2.41585 83.1949 8.39958 0.985487 2.41585 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA4 8670 Protocadherin alpha 4 NM_018907.3 1 5365 2844 NP_061730.1 Q9UN74 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2385+19338 2385+19338 NM_018907.3:c.2385+19338G>C p.? p.? 1 1 606310 19338 5' 89.8177 8.54173 0.976668 2.84293 89.8177 8.54173 0.976668 2.84293 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA5 8671 Protocadherin alpha 5 NM_018908.2 1 5218 2811 NP_061731.1 Q9Y5H7 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2352+4783 2352+4783 NM_018908.2:c.2352+4783G>C p.? p.? 1 1 606311 4783 5' 82.0199 9.53779 0.988376 II.07 82.0199 9.53779 0.988376 II.07 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA6 8672 Protocadherin alpha 6 NM_018909.3 1 5430 2853 NP_061732.1 Q9UN73 substitution synonymous exon GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 819 819 NM_018909.3:c.819G>C p.Ala273= p.Ala273Ala 1 606312 -1576 5' 87.5573 9.72159 0.991134 3.44323 87.5573 9.72159 0.991134 3.44323 0 Cadherin rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 A Ala GCG 0.107 A Ala GCC 0.403 273 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs148828100 5 140221047 G C - PCDHA1 8663 Protocadherin alpha 1 NM_018900.3 1 5415 2853 NP_061723.1 Q9Y5I3 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2394+52778 2394+52778 NM_018900.3:c.2394+52778G>C p.? p.? 1 1 606307 52778 5' 87.0783 8.62318 0.993879 0.926245 87.0783 8.62318 0.993879 0.926245 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA2 8668 Protocadherin alpha 2 NM_018905.2 1 5360 2847 NP_061728.1 Q9Y5H9 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2388+44110 2388+44110 NM_018905.2:c.2388+44110G>C p.? p.? 1 1 606308 44110 5' 95.331 X.37 0.996319 6.33975 95.331 X.37 0.996319 6.33975 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA3 8669 Protocadherin alpha 3 NM_018906.2 1 5260 2853 NP_061729.1 Q9Y5H8 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2394+37871 2394+37871 NM_018906.2:c.2394+37871G>C p.? p.? 1 1 606309 37871 5' 83.1949 8.39958 0.985487 2.41585 83.1949 8.39958 0.985487 2.41585 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA4 8670 Protocadherin alpha 4 NM_018907.3 1 5365 2844 NP_061730.1 Q9UN74 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2385+31890 2385+31890 NM_018907.3:c.2385+31890G>C p.? p.? 1 1 606310 31890 5' 89.8177 8.54173 0.976668 2.84293 89.8177 8.54173 0.976668 2.84293 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA5 8671 Protocadherin alpha 5 NM_018908.2 1 5218 2811 NP_061731.1 Q9Y5H7 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2352+17335 2352+17335 NM_018908.2:c.2352+17335G>C p.? p.? 1 1 606311 17335 5' 82.0199 9.53779 0.988376 II.07 82.0199 9.53779 0.988376 II.07 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA6 8672 Protocadherin alpha 6 NM_018909.3 1 5430 2853 NP_061732.1 Q9UN73 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2394+10977 2394+10977 NM_018909.3:c.2394+10977G>C p.? p.? 1 1 606312 10977 5' 87.5573 9.72159 0.991134 3.44323 87.5573 9.72159 0.991134 3.44323 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA7 8673 Protocadherin alpha 7 NM_018910.2 1 5221 2814 NP_061733.1 Q9UN72 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2355+4724 2355+4724 NM_018910.2:c.2355+4724G>C p.? p.? 1 1 606313 4724 5' 82.716 7.79763 0.985223 2.38383 82.716 7.79763 0.985223 2.38383 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA8 8674 Protocadherin alpha 8 NM_018911.2 1 5260 2853 NP_061734.1 Q9Y5H6 substitution synonymous exon GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 141 141 NM_018911.2:c.141G>C p.Arg47= p.Arg47Arg 1 606314 -2254 5' 87.5573 9.72159 0.995111 1.82499 87.5573 9.72159 0.995111 1.82499 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 Cadherin Cadherin, N-terminal rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 R Arg CGG 0.207 R Arg CGC 0.190 47 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs191873949 5 140235571 G C - PCDHA1 8663 Protocadherin alpha 1 NM_018900.3 1 5415 2853 NP_061723.1 Q9Y5I3 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+67302 2394+67302 NM_018900.3:c.2394+67302G>C p.? p.? 1 1 606307 67302 5' 87.0783 8.62318 0.993879 0.926245 87.0783 8.62318 0.993879 0.926245 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA10 8664 Protocadherin alpha 10 NM_018901.3 1 5420 2847 NP_061724.1 Q9Y5I2 substitution 5'UTR GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C -63 -63 NM_018901.3:c.-63G>C p.? p.? 1 606316 -2451 5' 85.2503 8.22968 0.742679 0.637565 85.2503 8.22968 0.742679 0.637565 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA2 8668 Protocadherin alpha 2 NM_018905.2 1 5360 2847 NP_061728.1 Q9Y5H9 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2388+58634 2388+58634 NM_018905.2:c.2388+58634G>C p.? p.? 1 1 606308 58634 5' 95.331 X.37 0.996319 6.33975 95.331 X.37 0.996319 6.33975 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA3 8669 Protocadherin alpha 3 NM_018906.2 1 5260 2853 NP_061729.1 Q9Y5H8 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+52395 2394+52395 NM_018906.2:c.2394+52395G>C p.? p.? 1 1 606309 52395 5' 83.1949 8.39958 0.985487 2.41585 83.1949 8.39958 0.985487 2.41585 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA4 8670 Protocadherin alpha 4 NM_018907.3 1 5365 2844 NP_061730.1 Q9UN74 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2385+46414 2385+46414 NM_018907.3:c.2385+46414G>C p.? p.? 1 1 606310 46414 5' 89.8177 8.54173 0.976668 2.84293 89.8177 8.54173 0.976668 2.84293 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA5 8671 Protocadherin alpha 5 NM_018908.2 1 5218 2811 NP_061731.1 Q9Y5H7 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2352+31859 2352+31859 NM_018908.2:c.2352+31859G>C p.? p.? 1 1 606311 31859 5' 82.0199 9.53779 0.988376 II.07 82.0199 9.53779 0.988376 II.07 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA6 8672 Protocadherin alpha 6 NM_018909.3 1 5430 2853 NP_061732.1 Q9UN73 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+25501 2394+25501 NM_018909.3:c.2394+25501G>C p.? p.? 1 1 606312 25501 5' 87.5573 9.72159 0.991134 3.44323 87.5573 9.72159 0.991134 3.44323 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA7 8673 Protocadherin alpha 7 NM_018910.2 1 5221 2814 NP_061733.1 Q9UN72 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2355+19248 2355+19248 NM_018910.2:c.2355+19248G>C p.? p.? 1 1 606313 19248 5' 82.716 7.79763 0.985223 2.38383 82.716 7.79763 0.985223 2.38383 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA8 8674 Protocadherin alpha 8 NM_018911.2 1 5260 2853 NP_061734.1 Q9Y5H6 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+12271 2394+12271 NM_018911.2:c.2394+12271G>C p.? p.? 1 1 606314 12271 5' 87.5573 9.72159 0.995111 1.82499 87.5573 9.72159 0.995111 1.82499 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA9 8675 Protocadherin alpha 9 NM_031857.1 1 5984 2853 NP_114063.1 Q9Y5H5 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+5097 2394+5097 NM_031857.1:c.2394+5097G>C p.? p.? 1 1 606315 5097 5' 85.2503 8.22968 0.71292 2.22121 85.2503 8.22968 0.71292 2.22121 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs201571737 5 140537454 C A - PCDHB17P 14547 Protocadherin beta 17 pseudogene NR_001280.1 1 2411 0 substitution exon GRCh37 140537454 140537454 Chr5(GRCh37):g.140537454C>A 1875 1875 NR_001280.1:n.1875C>A 1 rs201571737 yes no Frequency 1 C 0.000000 0 transversion C A C>A 0.992 0.205 191 PASS . . . . . . . . . . . . . . . . 0.1369863 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 146.0 . . . . . . . . . . 0.7077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . @ . . . 0.52 0.75 182 ENSG00000255622 PCDHB17 PCDHB17P ENST00000539533:c.*114C>A uc003lis.3:c.*114C>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs61742028 rs61742028 rs61742028 rs201571737 1 1538 10 1/0 0,213,255 +rs781890454 5 140590211 T C - PCDHB12 8683 Protocadherin beta 12 NM_018932.3 1 3408 2388 NP_061755.1 Q9Y5F1 substitution missense exon GRCh37 140590211 140590211 Chr5(GRCh37):g.140590211T>C 1732 1732 NM_018932.3:c.1732T>C p.Trp578Arg p.Trp578Arg 1 606338 rs781890454 yes no Frequency 1 C 0.000000 0 0.000894 0.000358 0.000379 0.000600 0.000701 0.004913 0.000374 0.000039 0.000787 0.004913 242 8 13 6 13 150 46 1 5 270568 22358 34302 10000 18548 30530 122992 25484 6354 0.000037 0.000000 0.000000 0.000000 0.000000 0.000328 0.000000 0.000000 0.000000 5 0 0 0 0 5 0 0 0 232 8 13 6 13 140 46 1 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5351161|COSM5351161 Thyroid|Lung 0.006693|0.001206 747|2487 transition T C T>C 0.000 -1.651 W Trp TGG 1.000 R Arg CGG 0.207 578 5 1 -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 101.29 0.00 Tolerated 1 IV.32 good 9.862E-1 0.04258 207 PASS . . . . . . . . . . . . . PCDHB12:NM_018932:exon1:c.T1732C:p.W578R . . 0.19831224 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.074 . . 237.0 . . . . . . . . . . -2.3313 -2.215 -2.331 c . . . . . 1.346e-03 . . . 0.0005 0.0017 0 0.0009 0.0003 0.0005 0.0015 0.0071 0.0005 0.0015 0 0.0007 0.0002 0.0004 0.0030 0.0071 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.015 @ . . . . . . ENSG00000120328 PCDHB12 PCDHB12 . . . 0.654 0.222 . . . . . . . Likely_benign . 0 . . . . . . T 0.198 0.007 . . 37 . 0.019 . . 0.394 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.435 . 0.072 . HET 1 . . . . . . . . . . . . . 10.455 . . 3.IV -6.79 . 1.000000 Q9Y5F1 . . . . . 0.011 . . . 0.0003 0.0010 0.0004 0.0006 0.0007 4.536e-05 0.0004 0.0009 0.0049 0.0005 0.0004 0 0 0.0007 0 0.0006 0 . . 0.283 . -2.628 -2.628000 . . 1.000000 . . 1.0E-207 0.000 0.063 . 0.188 0.233 . 0.004 . 0.033 -2.628 -1.847 . . . . . 1 1538 10 1/0 0,197,255 +rs32954 5 141016276 T C - HDAC3 4854 Histone deacetylase 3 NM_001355039.1 -1 1629 1305 NP_001341968.1 substitution intron GRCh37 141016276 141016276 Chr5(GRCh37):g.141016276T>C 55+27 55+27 NM_001355039.1:c.55+27A>G p.? p.? 1 1 605166 27 5' 81.398 9.19553 0.984733 8.51798 81.398 9.19553 0.984733 9.0611 0 rs32954 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999986 1.000000 1.000000 1.000000 0.999841 1.000000 0.999992 1.000000 1.000000 1.000000 277150 24022 34416 10148 18867 30780 126665 25786 6466 277154 24022 34416 10148 18870 30780 126666 25786 6466 0.999971 1.000000 1.000000 1.000000 0.999682 1.000000 0.999984 1.000000 1.000000 138573 12011 17208 5074 9432 15390 63332 12893 3233 4 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.079 0.448 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 172 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . 0.8806 . . . . . . . . 1.000 . . . 1 1.0000 1 0.9998 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.43 0.41 182 ENSG00000171720 HDAC3 HDAC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs32954 0.989 0.993 . . . . . . . . . . . . . . . . . . . . . . . . . . II.85 1 1.0000 1 1 0.9999 1 1.0000 1 1 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs32954 rs32954 rs32954 rs32954 1 1538 255 1.I 0,0,255 +rs32954 5 141016276 T C - RELL2 26902 RELT-like 2 NM_001130029.1 1 2155 912 NP_001123501.1 Q8NC24 substitution upstream GRCh37 141016276 141016276 Chr5(GRCh37):g.141016276T>C -1089 -1089 NM_001130029.1:c.-1089T>C p.? p.? 1 611213 -1033 5' 62.5857 6.65491 0.37191 9.1047 62.5857 6.65491 0.37191 9.1047 0 rs32954 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999986 1.000000 1.000000 1.000000 0.999841 1.000000 0.999992 1.000000 1.000000 1.000000 277150 24022 34416 10148 18867 30780 126665 25786 6466 277154 24022 34416 10148 18870 30780 126666 25786 6466 0.999971 1.000000 1.000000 1.000000 0.999682 1.000000 0.999984 1.000000 1.000000 138573 12011 17208 5074 9432 15390 63332 12893 3233 4 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.079 0.448 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 172 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . 0.8806 . . . . . . . . 1.000 . . . 1 1.0000 1 0.9998 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.43 0.41 182 ENSG00000171720 HDAC3 HDAC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs32954 0.989 0.993 . . . . . . . . . . . . . . . . . . . . . . . . . . II.85 1 1.0000 1 1 0.9999 1 1.0000 1 1 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs32954 rs32954 rs32954 rs32954 1 1538 255 1.I 0,0,255 +rs200296519 5 147209136 A G - SPINK1 11244 Serine peptidase inhibitor, Kazal type 1 NM_001354966.1 -1 643 240 NP_001341895.1 P00995 substitution intron GRCh37 147209136 147209136 Chr5(GRCh37):g.147209136A>G 87+26 87+26 NM_001354966.1:c.87+26T>C p.? p.? 3 3 167790 26 5' 79.775 8.26664 0.944162 0.649723 79.775 8.26664 0.944162 0 0 rs200296519 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000251 0.000083 0.000087 0.002076 0.000000 0.000000 0.000334 0.000000 0.000156 0.002076 69 2 3 21 0 0 42 0 1 275136 24012 34332 10114 18742 30708 125628 25190 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 2 3 21 0 0 42 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 97 RCV000508019.1 germline clinical testing Benign 1 not specified CS066653 Pancreatitis, chronic 17003641 DM? transition T C T>C 0.000 0.448 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.38157895 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . INTRON(MODIFIER||||SPINK1|mRNA|CODING|NM_003122|) . 0.0002 0.0002 . 0.0002 0.0002 . 0.3623 . . . . . . . . 2.210e-04 . . . 0 0.0003 0 0 0 0.0006 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.47 0.32 182 ENSG00000164266 SPINK1 SPINK1 . . . . . . 11 0.000169293 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200296519 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 6.544e-05 0.0003 8.957e-05 0.0021 0 0 0.0003 0.0002 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200296519 rs200296519 1 1538 10 1/0 0,255,255 +rs142227576 5 147494001 G A - SPINK5 15464 Serine peptidase inhibitor, Kazal type 5 NM_001127698.1 1 3729 3285 NP_001121170.1 substitution missense exon GRCh37 147494001 147494001 Chr5(GRCh37):g.147494001G>A 1964 1964 NM_001127698.1:c.1964G>A p.Gly655Asp p.Gly655Asp 21 605010 -52 5' 74.5116 7.15399 0.930665 1.21517 74.5116 7.15399 0.930665 1.32144 0 Kazal domain rs142227576 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002744 0.000708 0.002502 0.003350 0.000000 0.000000 0.004503 0.001358 0.002791 0.004503 760 17 86 34 0 0 570 35 18 276990 24010 34366 10150 18864 30782 126586 25782 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 758 17 86 34 0 0 568 35 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8248 3828 12076 32 4 36 0.00386473 0.00104384 0.00297226 0.00386473 0.00104384 0.00297226 81 RCV000486022.1 germline clinical testing VUS 1 not specified transition G A G>A 1.000 3.272 G Gly GGC 0.342 D Asp GAC 0.539 655 12 10 Horse -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 353.86 0.00 Deleterious 0 III.85 bad 7.629E-6 0.0001263 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.4659091 . . @ 41 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.717 . @ . . . . . 1 0.930 . . 88.0 . . . 0.001 0.003 0.0039 0.001 0.003 0.0039 . 0.7987 0.755 0.799 c . . . . . 2.523e-03 . . . 0.0006 0.0021 0.0010 0 0.0008 0.0040 0.0028 0 0.0005 0.0024 0.0011 0 0.0011 0.0041 0.0044 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.144 . . exonic exonic exonic . . 0.786 0.0006 . . . 0.32 0.4 182 ENSG00000133710 SPINK5 SPINK5 . . . 0.991 0.323 . 383 0.00589448 64976 380 0.00633481 59986 Uncertain_significance . 0 . 0.342 . . . . T 0.347 0.014 . . 37 . 0.410 . . 0.502 . . . 0.818 0.358 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.769 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.682 . . . . . 0.718 . 0.976 . HET 0 rs142227576 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 15.0935 3.18E-4 . V.42 V.42 . 0.020000 . . . . 0.002972 . 0.462 . . V.42 0.0006 0.0027 0.0024 0.0035 0 0.0013 0.0044 0.0029 0 0.0009 0.0033 0.0060 0 0 0.0020 0.0054 0.0020 . . 0.372 . 2.703 2.703000 . . 0.020000 . . 1.0E-255 0.997 0.399 . 0.888 1.000 . 0.449 . 0.551 2.703 0.917 0.004 . . rs142227576 rs142227576 1 1538 10 1/0 0,255,255 +. (chr5:148042223 C/T) 5 148042223 C T Not on a known gene +rs2342280 5 149584831 A G - SLC6A7 11054 Solute carrier family 6 member 7 NM_014228.4 1 3835 1911 NP_055043.2 Q99884 substitution intron GRCh37 149584831 149584831 Chr5(GRCh37):g.149584831A>G 1534-188 1534-188 NM_014228.4:c.1534-188A>G p.? p.? 13 12 606205 -188 3' 84.5597 4.89536 0.59777 0 84.5597 4.89536 0.59777 0 0 rs2342280 yes no Frequency/1000G 2 G 0.000000 0 0.999800 1.000000 1.000000 1.000000 1.000000 0.998600 0.999966 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 29563 8697 796 232 1620 0 13814 3494 910 29564 8698 796 232 1620 0 13814 3494 910 0.499983 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 14781 4348 398 116 810 0 6907 1747 455 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transition A G A>G 0.000 1.013 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||SLC6A7|mRNA|CODING|NM_014228|) . . . . . . . 0.1484 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.14 0.37 182 ENSG00000011083 SLC6A7 SLC6A7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2342280 0.870 0.819 . . . . . . . . . . . . . . . . . . . . . . . . . . III.44 . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs2342280 rs2342280 rs2342280 rs2342280 1 1538 255 1.I 0,0,255 +rs2342283 5 149584863 A G - SLC6A7 11054 Solute carrier family 6 member 7 NM_014228.4 1 3835 1911 NP_055043.2 Q99884 substitution intron GRCh37 149584863 149584863 Chr5(GRCh37):g.149584863A>G 1534-156 1534-156 NM_014228.4:c.1534-156A>G p.? p.? 13 12 606205 -156 3' 84.5597 4.89536 0.59777 0 84.5597 4.89536 0.59777 0 0 rs2342283 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999966 1.000000 1.000000 1.000000 1.000000 0.000000 0.999927 1.000000 1.000000 1.000000 29511 8690 794 224 1622 0 13775 3494 912 29512 8690 794 224 1622 0 13776 3494 912 0.499983 0.500000 0.500000 0.500000 0.500000 0.000000 0.499964 0.500000 0.500000 14755 4345 397 112 811 0 6887 1747 456 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transition A G A>G 0.000 -0.037 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . INTRON(MODIFIER||||SLC6A7|mRNA|CODING|NM_014228|) . . . . . . . 0.0661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.14 0.26 182 ENSG00000011083 SLC6A7 SLC6A7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2342283 0.989 0.971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs2342283 rs2342283 rs2342283 rs2342283 1 1538 255 1.I 0,0,255 +. 5 149763349 C G - TCOF1 11654 Treacher Collins-Franceschetti syndrome 1 NM_001135243.1 1 5096 4467 NP_001128715.1 Q13428 substitution intron GRCh37 149763349 149763349 Chr5(GRCh37):g.149763349C>G 2859+4054 2859+4054 NM_001135243.1:c.2859+4054C>G p.? p.? 17 17 606847 4054 5' 94.6711 X.63 0.997522 12.0641 94.6711 X.63 0.997522 12.0641 0 rs918698117 yes no Frequency 1 C 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000052 0.000000 0.000000 0.000052 3 0 0 0 0 0 3 0 0 149386 7682 23966 8260 10252 22824 57484 15076 3842 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 99 Exomes transversion C G C>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.5833333 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.2223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000070814 TCOF1 TCOF1 . uc003lrw.3:c.*31C>G NM_001008657:c.*31C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.008e-05 0 0 0 0 5.219e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149847490 5 150696639 G A - SLC36A2 18762 Solute carrier family 36 (proton/amino acid symporter), member 2 NM_181776.2 -1 3421 1452 NP_861441.2 Q495M3 substitution synonymous exon GRCh37 150696639 150696639 Chr5(GRCh37):g.150696639G>A 1191 1191 NM_181776.2:c.1191C>T p.Ala397= p.Ala397Ala 10 608331 11 3' 89.7583 XI.86 0.869584 12.898 89.7583 XI.86 0.839969 XII.81 -0.0113522 Amino acid transporter, transmembrane rs149847490 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.003344 0.000375 0.001570 0.002172 0.000000 0.002668 0.005349 0.002762 0.001706 0.005349 925 9 54 22 0 82 676 71 11 276628 24000 34384 10128 18860 30734 126370 25704 6448 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000078 0.000000 2 0 0 0 0 1 0 1 0 921 9 54 22 0 80 676 69 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4403 12973 30 3 33 0.00348837 0.00068089 0.00253729 0.00348837 0.00068089 0.00253729 40 COSM4159657 Thyroid 0.001339 747 transition C T C>T 1.000 1.093 A Ala GCC 0.403 A Ala GCT 0.263 397 255 PASS . 0.0014 0.0028 . 0.0026 . 0.001 0.0014 . 0.003 0.001 . . SLC36A2:NM_181776:exon10:c.C1191T:p.A397A . . 0.45544556 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A397|SLC36A2|mRNA|CODING|NM_181776|NM_181776.ex.10) 0.0007 0.0025 0.0035 0.0007 0.0025 0.0035 . 0.8776 . . . . . . . . 3.228e-03 . . . 0.0003 0.0027 0.0022 0 0.0016 0.0040 0 0.0022 0.0002 0.0031 0.0022 0 0.002 0.0047 0 0.0022 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.32 0.51 182 ENSG00000186335 SLC36A2 SLC36A2 . . . . . . 215 0.00330891 64976 210 0.00350082 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149847490 . . . . . . ID\x3dCOSM4159657\x3bOCCURENCE\x3d1(thyroid) . . . . . . . . . . . . . . . . 0.002537 . . . . 3 0.0004 0.0034 0.0016 0.0020 0 0.0029 0.0053 0.0013 0.0027 0.0003 0.0032 0.0024 0.0066 0 0.0017 0.0055 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0035 . . rs149847490 rs149847490 1 1538 10 1/0 0,255,255 +rs114785206 5 150722435 C T - SLC36A2 18762 Solute carrier family 36 (proton/amino acid symporter), member 2 NM_181776.2 -1 3421 1452 NP_861441.2 Q495M3 substitution intron GRCh37 150722435 150722435 Chr5(GRCh37):g.150722435C>T 440+14 440+14 NM_181776.2:c.440+14G>A p.? p.? 4 4 608331 14 5' 81.2188 9.23916 0.782263 6.99226 81.2188 9.23916 0.782263 6.32092 0 rs114785206 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.004000 0.001400 0.003590 0.000458 0.001860 0.002168 0.000000 0.002665 0.005787 0.002715 0.002011 0.005787 995 11 64 22 0 82 733 70 13 277136 24028 34408 10146 18866 30774 126664 25786 6464 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000078 0.000000 2 0 0 0 0 1 0 1 0 991 11 64 22 0 80 733 68 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8568 4403 12971 32 3 35 0.00372093 0.00068089 0.00269107 0.00372093 0.00068089 0.00269107 120 transition G A G>A 0.031 -0.037 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0012 0.0014 . 0.004 0.001 . . . . . 0.43076923 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . INTRON(MODIFIER||||SLC36A2|mRNA|CODING|NM_181776|) 0.0007 0.0027 0.0037 0.0007 0.0027 0.0037 . 0.1691 . . . . . . . . 3.481e-03 . . . 0.0003 0.0028 0.0026 0 0.0016 0.0043 0.0014 0.0021 0.0002 0.0033 0.0027 0 0.0018 0.0049 0.0015 0.0021 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.23 0.31 182 ENSG00000186335 SLC36A2 SLC36A2 . . . . . . 238 0.00366289 64976 232 0.00386757 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114785206 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.002691 . . . . . 0.0005 0.0036 0.0018 0.0020 0 0.0029 0.0058 0.0016 0.0027 0.0005 0.0034 0.0036 0.0066 0 0.0014 0.0059 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs114785206 rs114785206 1 1538 10 1/0 0,255,255 +rs142353390 5 150901601 C T - FAT2 3596 FAT tumor suppressor homolog 2 (Drosophila) NM_001447.2 -1 14536 13050 NP_001438.1 Q9NYQ8 substitution missense exon GRCh37 150901601 150901601 Chr5(GRCh37):g.150901601C>T 10553 10553 NM_001447.2:c.10553G>A p.Arg3518His p.Arg3518His 18 604269 47 3' 92.152 9.79149 0.984336 8.39712 92.152 9.79149 0.984336 7.93287 0 Cadherin rs142353390 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004638 0.000209 0.000641 0.004363 0.000000 0.000065 0.005397 0.018530 0.007939 0.018530 1275 5 22 44 0 2 674 477 51 274926 23978 34322 10084 18850 30640 124886 25742 6424 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000112 0.000544 0.000000 14 0 0 0 0 0 7 7 0 1247 5 22 44 0 2 660 463 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4404 12968 36 2 38 0.00418605 0.000453926 0.00292173 0.00418605 0.000453926 0.00292173 51 transition G A G>A 0.008 0.367 R Arg CGT 0.082 H His CAT 0.413 3518 11 6 Dog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 125.70 0.00 Tolerated 0.26 III.83 good 8.902E-1 0.2249 255 PASS . 0.0018 . . 0.01 . 0.0014 0.0014 . 0.005 0.001 ENSG00000086570:ENST00000261800:exon18:c.G10553A:p.R3518H . FAT2:NM_001447:exon18:c.G10553A:p.R3518H . . 0.55279505 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.078 . . 161.0 . . . 0.0005 0.0029 0.0042 0.0005 0.0029 0.0042 . -1.2113 -1.176 -1.211 c . . . . . 4.325e-03 . . . 0.0003 0.0032 0.0006 0 0.0182 0.0049 0.0028 6.158e-05 0.0002 0.0038 0.0007 0 0.0191 0.0049 0.0029 6.193e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.533 . . exonic exonic exonic . . 0.119 0.0014 . . . 0.31 0.26 182 ENSG00000086570 FAT2 FAT2 . . . 0.988 0.314 . 297 0.00457092 64976 290 0.00483446 59986 Likely_benign . 0 . 0.073 . . . . . . . . . 37 . 0.194 . . 0.216 . . . 0.043 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.132 . . 0 0 0 0 0 0 . 0.139 . . 0.104 . . . . . . 1 0.275 . . . . . 0.330 . 0.210 . HET 0.21 rs142353390 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 VIII.74 5.35E-4 ENST00000261800 V.14 -0.35 . 0.560000 . . . . 0.002922 . 0.164 . . . 0.0003 0.0042 0.0006 0.0044 0 0.0185 0.0047 0.0053 6.527e-05 0.0001 0.0082 0.0012 0.0033 0 0.0186 0.0108 0.0224 . . 0.185 . 0.041 0.041000 . . 0.560000 . . 1.0E-255 0.193 0.240 . 0.043 0.190 . 0.335 . 0.074 0.041 0.033 0.01 . . rs142353390 rs142353390 1 1538 10 1/0 0,247,255 +rs142353390 5 150901601 C T - MIR6499 49962 MicroRNA 6499 NR_106752.1 -1 62 0 substitution downstream GRCh37 150901601 150901601 Chr5(GRCh37):g.150901601C>T *47 *47 NR_106752.1:n.*47G>A p.? p.? 1 rs142353390 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004638 0.000209 0.000641 0.004363 0.000000 0.000065 0.005397 0.018530 0.007939 0.018530 1275 5 22 44 0 2 674 477 51 274926 23978 34322 10084 18850 30640 124886 25742 6424 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000112 0.000544 0.000000 14 0 0 0 0 0 7 7 0 1247 5 22 44 0 2 660 463 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4404 12968 36 2 38 0.00418605 0.000453926 0.00292173 0.00418605 0.000453926 0.00292173 51 transition G A G>A 0.008 0.367 255 PASS . 0.0018 . . 0.01 . 0.0014 0.0014 . 0.005 0.001 ENSG00000086570:ENST00000261800:exon18:c.G10553A:p.R3518H . FAT2:NM_001447:exon18:c.G10553A:p.R3518H . . 0.55279505 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.078 . . 161.0 . . . 0.0005 0.0029 0.0042 0.0005 0.0029 0.0042 . -1.2113 -1.176 -1.211 c . . . . . 4.325e-03 . . . 0.0003 0.0032 0.0006 0 0.0182 0.0049 0.0028 6.158e-05 0.0002 0.0038 0.0007 0 0.0191 0.0049 0.0029 6.193e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.533 . . exonic exonic exonic . . 0.119 0.0014 . . . 0.31 0.26 182 ENSG00000086570 FAT2 FAT2 . . . 0.988 0.314 . 297 0.00457092 64976 290 0.00483446 59986 Likely_benign . 0 . 0.073 . . . . . . . . . 37 . 0.194 . . 0.216 . . . 0.043 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.132 . . 0 0 0 0 0 0 . 0.139 . . 0.104 . . . . . . 1 0.275 . . . . . 0.330 . 0.210 . HET 0.21 rs142353390 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 VIII.74 5.35E-4 ENST00000261800 V.14 -0.35 . 0.560000 . . . . 0.002922 . 0.164 . . . 0.0003 0.0042 0.0006 0.0044 0 0.0185 0.0047 0.0053 6.527e-05 0.0001 0.0082 0.0012 0.0033 0 0.0186 0.0108 0.0224 . . 0.185 . 0.041 0.041000 . . 0.560000 . . 1.0E-255 0.193 0.240 . 0.043 0.190 . 0.335 . 0.074 0.041 0.033 0.01 . . rs142353390 rs142353390 1 1538 10 1/0 0,247,255 +rs368278167 5 159462214 C T - TTC1 12391 Tetratricopeptide repeat domain 1 NM_001282500.1 1 1479 879 NP_001269429.1 Q99614 substitution intron GRCh37 159462214 159462214 Chr5(GRCh37):g.159462214C>T 391+7 391+7 NM_001282500.1:c.391+7C>T p.? p.? 3 3 601963 7 5' 91.6164 10.0647 0.994717 1.54432 91.6164 10.0647 0.977868 II.68 -0.00564616 rs368278167 yes no Frequency 1 T 0.000000 0 0.000068 0.000086 0.000095 0.000000 0.000168 0.000139 0.000049 0.000000 0.000000 0.000168 18 2 3 0 3 4 6 0 0 266358 23356 31486 9866 17886 28686 123398 25546 6134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 2 3 0 3 4 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4405 13001 4 1 5 0.000465116 0.000226963 0.000384438 0.000465116 0.000226963 0.000384438 78 transition C T C>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.4390244 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0002 0.0004 0.0005 0.0002 0.0004 0.0005 . -0.0242 . . . . . . . . 8.683e-05 . . . 0 0.0001 0.0002 0.0004 0 7.416e-05 0 0.0002 0 0.0001 0.0002 0.0003 0 5.883e-05 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . 0.6 0.11 182 ENSG00000113312 TTC1 TTC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368278167 . . . . . . . . . . . . . . . . . . . . 0.0003 0.002 Name\x3dnsv830531 0.000384 . . . . . 0 5.523e-05 9.788e-05 0 0.0001 0 3.69e-05 0 0.0001 0.0002 0.0002 0 0 0.0006 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs368278167 rs368278167 1 1538 10 1/0 0,255,255 +. 5 159849526 C A - PTTG1 9690 Pituitary tumor-transforming 1 NM_001282382.1 1 1075 609 NP_001269311.1 O95997 substitution intron GRCh37 159849526 159849526 Chr5(GRCh37):g.159849526C>A 91+116 91+116 NM_001282382.1:c.91+116C>A p.? p.? 1 1 604147 116 5' 78.8739 8.00287 0.960347 2.25745 78.8739 8.00287 0.960347 2.25745 0 transversion C A C>A 0.000 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.2685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000164611 PTTG1 PTTG1 ENST00000517480:c.-69C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv883072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs380101 (chr5:162890953 G/A) 5 162890953 G A Transcript NM_001142556.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) HMMR +rs148648959 5 167880997 T C - WWC1 29435 WW and C2 domain containing 1 NM_001161661.1 1 6739 3360 NP_001155133.1 substitution synonymous exon GRCh37 167880997 167880997 Chr5(GRCh37):g.167880997T>C 2550 2550 NM_001161661.1:c.2550T>C p.Asn850= p.Asn850Asn 18 610533 25 3' 91.0293 4.19844 0.86424 2.27831 91.0293 4.19844 0.86424 2.70639 0 rs148648959 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.007000 0.008600 0.006806 0.001821 0.003765 0.003063 0.000000 0.001044 0.011407 0.006674 0.006069 0.011407 1858 43 128 31 0 32 1413 172 39 272980 23608 34000 10122 18544 30640 123868 25772 6426 0.000125 0.000000 0.000059 0.000000 0.000000 0.000000 0.000210 0.000233 0.000000 17 0 1 0 0 0 13 3 0 1824 43 126 31 0 32 1387 166 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8488 4398 12886 112 8 120 0.0130233 0.00181571 0.00922651 0.0130233 0.00181571 0.00922651 67 transition T C T>C 0.969 -0.360 N Asn AAT 0.464 N Asn AAC 0.536 850 255 PASS . 0.0032 0.01 . 0.01 . 0.0026 0.0086 . 0.007 . . . . . . 0.57575756 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . 0.0018 0.0092 0.013 0.0018 0.0092 0.013 . -0.6597 . . . . . . . . 6.519e-03 . . . 0.0018 0.0058 0.0035 0 0.0053 0.0101 0.0084 0.0009 0.0019 0.0060 0.0035 0 0.0058 0.0096 0.0086 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.56 0.3 182 ENSG00000113645 WWC1 WWC1 . . . . . . 524 0.00806452 64976 511 0.00851865 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148648959 . . . . . . . 0.003205128205128205 0.0 0.008287292817679558 0.0 0.005277044854881266 IX.05 0.001873 . IV.64 -3.38 . . . . . Name\x3dnsv5120 0.009227 . . . . . 0.0018 0.0068 0.0038 0.0032 0 0.0066 0.0115 0.0053 0.0010 0.0019 0.0069 0.0036 0 0 0.0069 0.0106 0.0102 . . . . -0.832 -0.832000 . . . . . 1.0E-255 . . . . . . . . . -0.832 . 0.013 . . rs148648959 rs148648959 1 1538 10 1/0 0,255,255 +rs45574034 5 169812398 G A - KCNIP1 15521 Kv channel interacting protein 1 NM_001278339.1 1 2089 726 NP_001265268.1 substitution upstream GRCh37 169812398 169812398 Chr5(GRCh37):g.169812398G>A -119179 -119179 NM_001278339.1:c.-119179G>A p.? p.? 1 604660 -119240 5' 93.9148 X.81 0.998784 9.46508 93.9148 X.81 0.998784 9.46508 0 rs45574034 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.003100 0.000000 0.008000 0.004300 0.006435 0.001708 0.007409 0.000197 0.000053 0.001202 0.010204 0.004614 0.005569 0.010204 1783 41 255 2 1 37 1292 119 36 277096 24006 34418 10148 18868 30780 126620 25792 6464 0.000065 0.000000 0.000116 0.000000 0.000000 0.000065 0.000079 0.000078 0.000000 9 0 2 0 0 1 5 1 0 1765 41 251 2 1 35 1282 117 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8504 4397 12901 96 9 105 0.0111628 0.00204267 0.0080732 0.0111628 0.00204267 0.0080732 135 transition G A G>A 0.992 0.448 255 PASS . 0.0037 0.01 . 0.01 . 0.0028 0.0043 . 0.008 0.0031 . . KCNMB1:NM_004137:exon2:c.C54T:p.C18C . . 0.4563107 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.002 0.0081 0.011 0.002 0.0081 0.011 . I.03 . . . . . . . . 5.967e-03 . . . 0.0015 0.0060 0.0052 0 0.0039 0.0102 0.0042 0.0012 0.0014 0.0056 0.0050 0 0.0040 0.0089 0.0029 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.32 0.3 182 ENSG00000145936 KCNMB1 KCNMB1 . . . . . . 509 0.00783366 64976 495 0.00825192 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs45574034 . . . . . . . . . . . . . . . . . . . . . . . 0.008073 . . . . II.38 0.0014 0.0065 0.0073 0.0002 0 0.0045 0.0103 0.0060 0.0012 0.0022 0.0062 0.0131 0 0.0006 0.0054 0.0093 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs45574034 rs45574034 rs45574034 rs45574034 1 1538 10 1/0 0,255,255 +rs45574034 5 169812398 G A - KCNMB1 6285 Potassium large conductance calcium-activated channel, subfamily M, beta member 1 NM_004137.3 -1 1562 576 NP_004128.1 Q16558 substitution synonymous exon GRCh37 169812398 169812398 Chr5(GRCh37):g.169812398G>A 54 54 NM_004137.3:c.54C>T p.Cys18= p.Cys18Cys 2 603951 78 3' 71.3449 5.20624 0.046712 6.95544 71.3449 5.20624 0.046712 6.82641 0 Potassium channel, calcium-activated, BK, beta subunit rs45574034 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.003100 0.000000 0.008000 0.004300 0.006435 0.001708 0.007409 0.000197 0.000053 0.001202 0.010204 0.004614 0.005569 0.010204 1783 41 255 2 1 37 1292 119 36 277096 24006 34418 10148 18868 30780 126620 25792 6464 0.000065 0.000000 0.000116 0.000000 0.000000 0.000065 0.000079 0.000078 0.000000 9 0 2 0 0 1 5 1 0 1765 41 251 2 1 35 1282 117 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8504 4397 12901 96 9 105 0.0111628 0.00204267 0.0080732 0.0111628 0.00204267 0.0080732 135 transition C T C>T 0.992 0.448 C Cys TGC 0.552 C Cys TGT 0.448 18 255 PASS . 0.0037 0.01 . 0.01 . 0.0028 0.0043 . 0.008 0.0031 . . KCNMB1:NM_004137:exon2:c.C54T:p.C18C . . 0.4563107 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.002 0.0081 0.011 0.002 0.0081 0.011 . I.03 . . . . . . . . 5.967e-03 . . . 0.0015 0.0060 0.0052 0 0.0039 0.0102 0.0042 0.0012 0.0014 0.0056 0.0050 0 0.0040 0.0089 0.0029 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.32 0.3 182 ENSG00000145936 KCNMB1 KCNMB1 . . . . . . 509 0.00783366 64976 495 0.00825192 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs45574034 . . . . . . . . . . . . . . . . . . . . . . . 0.008073 . . . . II.38 0.0014 0.0065 0.0073 0.0002 0 0.0045 0.0103 0.0060 0.0012 0.0022 0.0062 0.0131 0 0.0006 0.0054 0.0093 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs45574034 rs45574034 rs45574034 rs45574034 1 1538 10 1/0 0,255,255 +rs34907038 5 174948943 C T - SFXN1 16085 Sideroflexin 1 NM_001322977.1 1 4156 969 NP_001309906.1 Q9H9B4 substitution missense exon GRCh37 174948943 174948943 Chr5(GRCh37):g.174948943C>T 796 796 NM_001322977.1:c.796C>T p.Pro266Ser p.Pro266Ser 9 615569 22 3' 81.4434 5.73053 0.746843 0 81.4434 5.73053 0.746843 0 0 Cryptic Acceptor Strongly Activated 174948953 8.4e-05 65.7859 1.15037 0.000177 69.0686 rs34907038 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.002000 0.004300 0.003494 0.000957 0.001687 0.002463 0.000000 0.003673 0.005330 0.002133 0.002939 0.005330 968 23 58 25 0 113 675 55 19 277080 24026 34390 10150 18846 30764 126652 25788 6464 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 3 0 0 0 0 0 3 0 0 962 23 58 25 0 113 669 55 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4403 12953 50 3 53 0.00581395 0.00068089 0.00407504 0.00581395 0.00068089 0.00407504 129 transition C T C>T 0.992 5.532 P Pro CCC 0.328 S Ser TCC 0.220 266 13 12 C. elegans -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 97.78 73.35 Tolerated 0.15 III.40 255 PASS . 0.0014 0.01 . . . 0.0014 0.0043 . 0.002 0.002 ENSG00000164466:ENST00000321442:exon9:c.C796T:p.P266S . SFXN1:NM_022754:exon9:c.C796T:p.P266S . . 0.4528302 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.896 . @ . . . . . 1 0.960 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P266S|SFXN1|mRNA|CODING|NM_022754|NM_022754.ex.9) 0.0007 0.0041 0.0058 0.0007 0.0041 0.0058 . 0.7497 0.669 0.750 c . . . . . 3.299e-03 . . . 0.0008 0.0035 0.0013 0 0.0018 0.0054 0.0042 0.0036 0.0007 0.0031 0.0013 0 0.0020 0.0043 0.0014 0.0035 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.927 0.0014 . . . 0.48 0.34 182 ENSG00000164466 SFXN1 SFXN1 . . . 1.000 0.747 . 259 0.00398609 64976 252 0.00420098 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.643 0.050 . . 37 . 0.564 . . 0.648 . . . 0.968 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.958 . . 0 0 0 0 0 0 . 0.561 . . 0.654 . . . . . . 0 0.682 . . . . . 0.915 . 0.861 . HET 0 rs34907038 . . . . . . . 0.0013736263736263737 0.0 0.008287292817679558 0.0 0.0 18.6782 8.03E-4 ENST00000321442 V.82 V.82 . 0.020000 Q9H9B4 . . Name\x3dnsv469707 0.004075 . 0.930 . . V.82 0.0010 0.0036 0.0017 0.0025 0 0.0021 0.0054 0.0026 0.0037 0.0009 0.0030 0 0 0 0.0026 0.0048 0.0051 . . 0.730 . 2.760 2.760000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.349 0.928 . 0.844 . 0.490 2.760 0.871 0.01 rs34907038 rs34907038 rs34907038 rs34907038 1 1538 10 1/0 0,255,255 +rs748724091 5 175520157 G A - FAM153B 27323 Family with sequence similarity 153, member B NM_001265615.1 1 1794 933 NP_001252544.1 Q9UHL3 substitution intron GRCh37 175520157 175520157 Chr5(GRCh37):g.175520157G>A 29-41 29-41 NM_001265615.1:c.29-41G>A p.? p.? 4 3 -41 3' 76.1535 6.54352 0.888388 4.52824 76.1535 6.54352 0.888388 4.62275 0 rs748724091 yes no Frequency 1 G 0.000000 0 0.000521 0.002106 0.000093 0.000367 0.000164 0.000986 0.000348 0.000064 0.000917 0.002106 79 29 2 2 2 19 21 1 3 151528 13768 21480 5450 12228 19278 60424 15630 3270 0.000119 0.000291 0.000093 0.000000 0.000000 0.000207 0.000132 0.000000 0.000000 9 2 1 0 0 2 4 0 0 61 25 0 2 2 15 13 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.037 203 PASS . . . . . . . . . . . . . . . . 0.17021276 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||FAM153B|mRNA|CODING|NM_001265615|) . . . . . . . -0.4568 . . . . . . . . 5.427e-04 . . . 0.0029 0.0008 0.0004 0 0 0.0004 0 0.0011 0.0020 0.0006 0.0004 0 0 0.0003 0 0.0011 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000182230 FAM153B FAM153B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748724091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0004 9.433e-05 0.0002 8.433e-05 0 0.0003 0.0003 0.0010 0.0034 0.0024 0 0.0125 0.0027 0.0014 0.0012 0.0098 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs4448007 rs4448007 rs4448007 rs4448007 1 1538 10 1/0 0,255,255 +rs62389236 5 175520310 A T - FAM153B 27323 Family with sequence similarity 153, member B NM_001265615.1 1 1794 933 NP_001252544.1 Q9UHL3 substitution intron GRCh37 175520310 175520310 Chr5(GRCh37):g.175520310A>T 108+33 108+33 NM_001265615.1:c.108+33A>T p.? p.? 4 4 33 5' 84.792 6.22623 0.616386 4.50266 84.792 6.22623 0.616386 4.42838 0 Cryptic Acceptor Strongly Activated 175520324 1.98464 0.136354 5.68744 0.481853 80.2764 rs62389236 yes no Frequency/1000G 2 0.000000 0 0.045128 0.015100 0.045000 0.045600 0.086500 0.041800 0.000306 0.000837 0.000064 0.000234 0.000293 0.000000 0.000289 0.000625 0.000378 0.000837 71 18 2 2 5 0 29 13 2 232158 21496 31282 8534 17070 27428 100266 20786 5296 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000096 0.000000 2 0 0 0 0 0 1 1 0 67 18 2 2 5 0 27 11 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -1.732 111 PASS . . . . . 0.015 0.045 0.042 0.046 0.086 0.045 . . . . . 1.0 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 13.0 . . INTRON(MODIFIER||||FAM153B|mRNA|CODING|NM_001265615|) . . . . . . . -0.3776 . . . . . . . . 5.892e-04 . . . 0.0003 0.0002 0 0.0002 0 0.0003 0 0 0.0001 3.311e-05 0 0 0 4.569e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0451 . . . . . . ENSG00000182230 FAM153B FAM153B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62389236 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.056e-05 0 0.0001 6.289e-05 0.0003 9.988e-05 0 0 0.0021 0.0023 0.0031 0.0042 0.0034 0.0034 0.0020 0.0029 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.043 rs62389236 rs62389236 rs62389236 rs370229269 1 1538 255 1.I 0,0,255 +rs756424964 5 175520758 A C - FAM153B 27323 Family with sequence similarity 153, member B NM_001265615.1 1 1794 933 NP_001252544.1 Q9UHL3 substitution synonymous exon GRCh37 175520758 175520758 Chr5(GRCh37):g.175520758A>C 120 120 NM_001265615.1:c.120A>C p.Gly40= p.Gly40Gly 5 12 3' 90.1222 8.83912 0.927645 2.47287 90.1222 8.83912 0.962753 2.77655 0.0126155 rs756424964 yes no Frequency 1 A 0.000000 0 0.001100 0.000648 0.001284 0.004587 0.000678 0.000000 0.001478 0.000000 0.004167 0.004587 10 1 2 1 1 0 4 0 1 9092 1544 1558 218 1476 1268 2706 82 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 1 2 1 1 0 4 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4003456 Haematopoietic and lymphoid tissue 0.000567 3530 transversion A C A>C 0.000 -0.602 G Gly GGA 0.246 G Gly GGC 0.342 40 255 PASS . . . . . . . . . . . . . FAM153B:NM_001265615:exon5:c.A120C:p.G40G . . 0.35714287 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 14.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G40|FAM153B|mRNA|CODING|NM_001265615|NM_001265615.ex.5) . . . . . . . -0.3685 . . . . . . . . 7.599e-04 . . . 0 0 . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.37 182 ENSG00000182230 FAM153B FAM153B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs756424964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0011 0.0013 0.0046 0.0007 0 0.0015 0.0042 0 0 0 . . . 0 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62389239 rs62389239 rs62389239 rs62389239 1 1538 10 1/0 0,255,255 +rs4078316 5 175535641 G A - FAM153B 27323 Family with sequence similarity 153, member B NM_001265615.1 1 1794 933 NP_001252544.1 Q9UHL3 substitution missense exon GRCh37 175535641 175535641 Chr5(GRCh37):g.175535641G>A 665 665 NM_001265615.1:c.665G>A p.Gly222Glu p.Gly222Glu 16 34 3' 82.2322 6.29741 0.962211 IV.39 82.2322 6.29741 0.962211 5.11769 0 rs4078316 no no 0 0.000000 0 0.000085 0.000392 0.000030 0.000000 0.000054 0.000033 0.000090 0.000000 0.000000 0.000392 23 9 1 0 1 1 11 0 0 269450 22940 33558 9956 18358 30176 122680 25538 6244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 9 1 0 1 1 11 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5956862 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.000 -1.167 G Gly GGG 0.250 E Glu GAG 0.583 222 5 3 Orangutan -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 174.09 0.00 Tolerated 1 III.67 196 PASS . . . . . . . . . . . . . FAM153B:NM_001265615:exon16:c.G665A:p.G222E . . 0.15068494 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.008 . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G222E|FAM153B|mRNA|CODING|NM_001265615|NM_001265615.ex.16) . . . . . . . -1.4927 -1.705 -1.493 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.071 @ . . . 0.45 0.31 182 ENSG00000182230 FAM153B FAM153B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.045 0.002 . . 37 . 0.180 . . 0.092 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.630 . . 0 0 0 0 0 0 . 0.550 . . 0.488 . . . . . . 0 0.010 . . . . . 0.153 . 0.163 . HET 1 . . . . . . . . . . . . . V.88 . . 0.965 -1.93 . 1.000000 P0C7A2 . . . . . 0.006 . . . 0 4.14e-06 0 0 0 0 0 0 3.314e-05 0.0011 0.0008 0.0013 0 0.0007 0 0.0008 0 . . 0.133 . -1.152 -1.152000 . . 1.000000 . . 1.0E-196 0.000 0.063 . 0.016 0.083 . 0.023 . 0.002 -1.152 -2.009 . . rs4078316 rs4078316 rs4078316 1 1538 10 1/0 0,243,255 +rs372138606 5 176005131 G A - CDHR2 18231 Cadherin-related family member 2 NM_001171976.1 1 4303 3933 NP_001165447.1 Q9BYE9 substitution intron GRCh37 176005131 176005131 Chr5(GRCh37):g.176005131G>A 1574+35 1574+35 NM_001171976.1:c.1574+35G>A p.? p.? 15 15 35 5' 81.8924 9.08182 0.988041 9.21229 81.8924 9.08182 0.988041 8.94176 0 Cryptic Donor Strongly Activated 176005128 7.23301 0.683424 76.7703 VIII.68 0.980361 81.1326 rs372138606 yes no Frequency 1 G 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000051 0.000041 0.000000 0.000051 7 0 0 0 0 0 6 1 0 259364 22882 33080 9258 18010 28398 117532 24112 6092 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4402 12999 1 0 1 0.000116306 0 7.69231e-05 0.000116306 0 7.69231e-05 24 transition G A G>A 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.5194805 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.6955 . . . . . . . . 3.162e-05 . . . 0 2.73e-05 0 0 0 5.829e-05 0 0 0 2.333e-05 0 0 0 4.461e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.3 182 ENSG00000074276 CDHR2 CDHR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372138606 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 2.627e-05 0 0 0 4.85e-05 4.877e-05 0 0 0 3.23e-05 0 0 0 0 6.667e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs372138606 rs372138606 1 1538 10 1/0 0,255,255 +. 5 176026119 TCTCAAAGACCCAGGATCCTCCTTC T - GPRIN1 24835 G protein regulated inducer of neurite outgrowth 1 NM_052899.2 -1 4208 3027 NP_443131.2 Q7Z2K8 deletion in-frame exon GRCh37 176026120 176026143 Chr5(GRCh37):g.176026120_176026143del 693 716 NM_052899.2:c.693_716del p.Glu233_Lys240del p.Glu233_Lys240del 2 611239 736 3' 88.9747 X.57 0.937305 9.12095 88.9747 X.57 0.937305 9.12095 0 rs142779818 yes no Frequency/1000G 2 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000087 0.000050 0.000027 0.000000 0.000000 0.000087 4 0 0 0 1 1 2 0 0 166964 10544 25488 6266 11536 20126 74222 15038 3744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 157 Exomes 6607 3329 9936 1529 863 2392 0.18793 0.205868 0.19403 0.18793 0.205868 0.19403 123 COSM1436171|COSM1436171|COSM1436171 Urinary tract|Large intestine|Haematopoietic and lymphoid tissue 0.001488|0.001345|0.000567 672|2231|3530 GAAGGAGGATCCTGGGTCTTTGAG 255 Pass . . . . . . . . . . . ENSG00000169258:ENST00000303991:exon2:c.693_716del:p.231_239del . GPRIN1:NM_052899:exon2:c.693_716del:p.231_239del . . 0.39130434 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 69 . . . . . . . . . . . . . . . . . . . 8.091e-06 . . . 0 1.724e-05 0 0.0004 0 0 0 0 . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000169258 GPRIN1 GPRIN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142779818 . . . . . . . . . . . . . . . . . . . . . . . 0.195846 . . . . . 0 2.396e-05 0 0 8.669e-05 0 2.695e-05 0 4.969e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs142779818 rs142779818 1 1538 10 1.I 0,12,41 +rs79403503 5 176026146 C T - GPRIN1 24835 G protein regulated inducer of neurite outgrowth 1 NM_052899.2 -1 4208 3027 NP_443131.2 Q7Z2K8 substitution synonymous exon GRCh37 176026146 176026146 Chr5(GRCh37):g.176026146C>T 690 690 NM_052899.2:c.690G>A p.Pro230= p.Pro230Pro 2 611239 733 3' 88.9747 X.57 0.937305 9.12095 88.9747 X.57 0.937305 9.12095 0 rs79403503 yes no Frequency/1000G 2 C 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000046 0.000183 0.000046 5 0 0 0 0 0 3 1 1 245248 15262 33546 9838 17234 30752 111272 21890 5454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 3 1 1 0 0 0 0 0 0 0 0 0 PASS 114 Exomes COSM3761127|COSM3761127|COSM3761127|COSM3761127|COSM3761127 Thyroid|Liver|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.001339|0.000422|0.000448|0.000578|0.000283 747|2371|2231|1729|3530 transition G A G>A 0.000 -0.360 P Pro CCG 0.115 P Pro CCA 0.274 230 255 PASS . . . . . . . . . . . ENSG00000169258:ENST00000303991:exon2:c.G690A:p.P230P . GPRIN1:NM_052899:exon2:c.G690A:p.P230P . . 0.4084507 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . 0.0853 . . . . . . . . 6.482e-05 . . . 0 6.326e-05 0 0 0.0004 6.857e-05 0.0021 0 0 8.079e-05 0 0 0.0002 0.0001 0.0020 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.21 182 ENSG00000169258 GPRIN1 GPRIN1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs79403503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.039e-05 0 0 0 4.568e-05 2.696e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79403503 rs79403503 1 1538 10 1/0 0,255,255 +rs76216490 5 177158552 G T - FAM153A 29940 Family with sequence similarity 153 member A NM_173663.4 -1 1936 933 NP_775934.3 Q9UHL3 substitution intron GRCh37 177158552 177158552 Chr5(GRCh37):g.177158552G>T 631+18 631+18 NM_173663.4:c.631+18C>A p.? p.? 16 16 18 5' 67.8112 6.57933 0.611244 5.21314 67.8112 6.57933 0.611244 4.73005 0 rs76216490 yes no Frequency/1000G 2 T 0.000000 0 0.092053 0.063500 0.095100 0.114100 0.109300 0.085000 0.000192 0.000000 0.000043 0.000535 0.000168 0.000000 0.000272 0.000212 0.000464 0.000535 36 0 1 3 2 0 24 4 2 187716 16238 23122 5606 11878 19600 88134 18828 4310 0.000107 0.000000 0.000000 0.000357 0.000000 0.000000 0.000136 0.000212 0.000464 10 0 0 1 0 0 6 2 1 15 0 1 1 2 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6821 3494 10315 295 158 453 0.0414559 0.043264 0.0420691 0.0414559 0.043264 0.0420691 72 transversion C A C>A 0.000 -2.861 111 PASS 0.2 0.32 0.35 0.41 0.32 0.064 0.092 0.085 0.11 0.11 0.095 . . . . . 1.0 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . INTRON(MODIFIER||||FAM153A|mRNA|CODING|NM_173663|) 0.043 0.042 0.042 0.043 0.042 0.042 . -0.8225 . . . . . . . . 2.221e-03 . . . 0 0.0003 0 0.0003 0 0.0005 0 0 0 2.746e-05 0 0 0 5.264e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0921 . . . 0.37 0.33 182 ENSG00000170074 FAM153A FAM153A . . . . . . 12858 0.197888 64976 11830 0.197213 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76216490 0.196 0.188 . . . . . . . . . . . . . . . . . . . . . 0.042069 . . . . . 0 0.0001 4.435e-05 0.0006 0.0002 0.0002 0.0002 0 0 0 0.0006 0 0 0 0 0.0009 0.0032 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.41 . . rs76216490 rs76216490 1 1538 255 1.I 0,0,255 +. 5 177161376 C T - FAM153A 29940 Family with sequence similarity 153 member A NM_173663.4 -1 1936 933 NP_775934.3 Q9UHL3 substitution splice site GRCh37 177161376 177161376 Chr5(GRCh37):g.177161376C>T 529+5 529+5 NM_173663.4:c.529+5G>A p.? p.? 14 14 5 5' 77.6489 VIII.57 0.992297 5.1242 65.4974 II.32 0.577834 0 -0.421568 0.000035 0.000000 0.000000 0.000000 0.000172 0.000000 0.000000 0.000000 0.000717 0.000172 2 0 0 0 1 0 0 0 1 57304 4866 8572 1102 5828 5112 22278 8152 1394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transition G A G>A 0.028 0.932 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . INTRON(MODIFIER||||FAM153A|mRNA|CODING|NM_173663|) . . . . . . . -0.1494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000170074 FAM153A FAM153A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.782 . . . . . . . 0 3.49e-05 0 0 0.0002 0 0 0.0007 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs79590875 5 177171823 G T - FAM153A 29940 Family with sequence similarity 153 member A NM_173663.4 -1 1936 933 NP_775934.3 Q9UHL3 substitution intron GRCh37 177171823 177171823 Chr5(GRCh37):g.177171823G>T 108+66 108+66 NM_173663.4:c.108+66C>A p.? p.? 5 5 66 5' 84.792 6.22623 0.616386 4.47541 84.792 6.22623 0.616386 4.42838 0 rs79590875 no no 0 T 0.000000 0 0.000110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000209 0.000000 0.000000 0.000209 2 0 0 0 0 0 2 0 0 18174 4410 524 168 902 0 9586 1988 596 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transversion C A C>A 0.000 -0.117 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||FAM153A|mRNA|CODING|NM_173663|) . . . . . . . -0.2729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.22 182 ENSG00000170074 FAM153A FAM153A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.022 . . rs79590875 rs79590875 1 1538 255 1.I 0,0,255 +rs558959239 5 177172009 C T - FAM153A 29940 Family with sequence similarity 153 member A NM_173663.4 -1 1936 933 NP_775934.3 Q9UHL3 substitution intron GRCh37 177172009 177172009 Chr5(GRCh37):g.177172009C>T 29-41 29-41 NM_173663.4:c.29-41G>A p.? p.? 5 4 -41 3' 76.1535 6.54352 0.888388 4.52824 76.1535 6.54352 0.888388 4.62275 0 rs558959239 yes no Frequency/1000G 2 C 0.000000 0 0.028355 0.068800 0.006100 0.002000 0.021900 0.030300 0.000605 0.003912 0.000000 0.000377 0.000145 0.002188 0.000204 0.000000 0.000982 0.003912 53 21 0 1 1 20 8 0 2 87564 5368 11838 2654 6894 9140 39180 10454 2036 0.000274 0.002608 0.000000 0.000000 0.000000 0.000875 0.000051 0.000000 0.000000 12 7 0 0 0 4 1 0 0 29 7 0 1 1 12 6 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.570 200 PASS . . . . . 0.069 0.028 0.03 0.002 0.022 0.0061 . . . . . 0.1594203 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . INTRON(MODIFIER||||FAM153A|mRNA|CODING|NM_173663|) . . . . . . . -0.4743 . . . . . . . . 6.151e-04 . . . 0.0062 0.0012 0 0.0005 0 0.0002 0 0.0026 0.0075 0.0012 0 0.0005 0 0.0004 0 0.0027 . . . . . . intronic intronic intronic . . . 0.0284 . . . 0.31 0.26 182 ENSG00000170074 FAM153A FAM153A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558959239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0006 0 0.0004 0.0001 0 0.0002 0.0010 0.0022 0.0074 0.0025 0 0 0 0 0.0017 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs4448007 rs4448007 rs4448007 rs4448007 1 1538 10 1/0 0,248,255 +. 5 177465775 G C - FAM153C 33936 Family with sequence similarity 153 member C NM_001355471.1 1 1081 435 NP_001342400.1 Q494X1 substitution intron GRCh37 177465775 177465775 Chr5(GRCh37):g.177465775G>C 29-64 29-64 NM_001355471.1:c.29-64G>C p.? p.? 4 3 -64 3' 76.1535 6.54352 0.888388 4.52824 76.1535 6.54352 0.888388 4.42071 0 0.002356 0.008354 0.002874 0.012500 0.000000 0.000000 0.000488 0.000000 0.000000 0.012500 24 20 1 1 0 0 2 0 0 10188 2394 348 80 300 0 4102 2594 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 20 1 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transversion G C G>C 0.000 -2.135 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FAM153C|Non-coding_transcript|NON_CODING|NR_038353|) . . . . . . . -0.8034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.32 182 ENSG00000204677 FAM153C FAM153C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0084 0.0024 0.0029 0.0125 0 0 0.0005 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs62389235 rs62389235 rs62389235 rs62389235 1 1538 10 1/0 0,255,255 +rs769831117 5 177482586 C T - FAM153C 33936 Family with sequence similarity 153 member C NM_001355471.1 1 1081 435 NP_001342400.1 Q494X1 substitution downstream GRCh37 177482586 177482586 Chr5(GRCh37):g.177482586C>T *8464 *8464 NM_001355471.1:c.*8464C>T p.? p.? 10 8558 3' 86.7284 X.68 0.787359 9.50736 86.7284 X.68 0.787359 9.50736 0 rs769831117 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8146 350 120 258 50 0 6520 640 208 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 203 Genomes transition C T C>T 0.000 0.851 187 PASS . . . . . . . . . . . . . . . . 0.12820514 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 117.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1023 . . . . . . . . 7.985e-06 . . . 0.0001 1.189e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000218227 . . . dist\x3d6498\x3bdist\x3d57970 dist\x3d6498\x3bdist\x3d57970 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs769831117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +rs372220561 5 177482594 C T - FAM153C 33936 Family with sequence similarity 153 member C NM_001355471.1 1 1081 435 NP_001342400.1 Q494X1 substitution downstream GRCh37 177482594 177482594 Chr5(GRCh37):g.177482594C>T *8472 *8472 NM_001355471.1:c.*8472C>T p.? p.? 10 8566 3' 86.7284 X.68 0.787359 9.50736 86.7284 X.68 0.787359 9.50736 0 Cryptic Acceptor Strongly Activated 177482603 5.05777 0.014451 71.0361 VI.76 0.043412 73.748 rs372220561 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000024 0.000401 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000401 6 6 0 0 0 0 0 0 0 248890 14954 33622 10022 17166 30746 116636 20124 5620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 6 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8244 3858 12102 0 2 2 0 0.000518135 0.000165235 0 0.000518135 0.000165235 25 transition C T C>T 0.008 0.851 193 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . INTERGENIC(MODIFIER||||||||) 0.0005 0.0002 . 0.0005 0.0002 . . -0.0268 . . . . . . . . 3.992e-05 . . . 0.0005 4.716e-05 0 0 0 0 0 0 0.0004 2.96e-05 0 0 0 0 0 0 . . . . . . upstream intergenic intergenic . . . 0.0002 . . . 0.4 0.18 182 ENSG00000218227 . . . dist\x3d6506\x3bdist\x3d57962 dist\x3d6506\x3bdist\x3d57962 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs372220561 . . . . . . . . . . . . . . . . . . . . . . . 0.000165 . . . . . 0.0003 1.662e-05 0 0 0 0 0 0 0 0.0056 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . 0.0005 . . rs372220561 rs372220561 1 1538 10 1/0 0,222,255 +. 5 177482657 GCAA G - FAM153C 33936 Family with sequence similarity 153 member C NM_001355471.1 1 1081 435 NP_001342400.1 Q494X1 deletion downstream GRCh37 177482658 177482660 Chr5(GRCh37):g.177482658_177482660del *8536 *8538 NM_001355471.1:c.*8536_*8538del p.? p.? 10 8630 3' 86.7284 X.68 0.787359 9.50736 86.7284 X.68 0.787359 9.50736 0 Cryptic Acceptor Strongly Activated 177482665 8,00E-06 0.276163 0.000169 62.7928 CAA 255 Pass . . . . . . . . . . . . . . . . 0.10185185 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 108 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . . . . . . . . ENSG00000218227 . . . dist\x3d6570\x3bdist\x3d57896 dist\x3d6570\x3bdist\x3d57896 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,99 +rs546192999 (chr5:178950347 C/T) 5 178950347 C T Not on a known gene +. 5 179071158 G A - C5orf60 27753 Chromosome 5 open reading frame 60 NM_001305388.1 -1 1220 846 NP_001292317.1 substitution intron GRCh37 179071158 179071158 Chr5(GRCh37):g.179071158G>A 223-71 223-71 NM_001305388.1:c.223-71C>T p.? p.? 2 1 -71 3' 93.5697 XII.99 0.989308 8.42422 93.5697 XII.99 0.989308 8.63055 0 Cryptic Acceptor Strongly Activated 179071140 2.20655 0.014916 73.976 2.80382 0.018013 73.976 0.000034 0.000000 0.001244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001244 1 0 1 0 0 0 0 0 0 29094 8084 804 284 1366 0 14226 3408 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 26 Genomes transition C T C>T 0.000 -2.054 223 PASS . . . . . . . . . . . . . . . . 0.2236842 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . -0.5343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000204661 C5orf60 C5orf60 ENST00000513845:c.*61C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.437e-05 0.0012 0 0 0 0 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs570108607 5 179548267 C A - RASGEF1C 27400 RasGEF domain family, member 1C NM_175062.3 -1 2216 1401 NP_778232.2 Q8N431 substitution intron GRCh37 179548267 179548267 Chr5(GRCh37):g.179548267C>A 715-118 715-118 NM_175062.3:c.715-118G>T p.? p.? 7 6 -118 3' 81.1813 X.52 0.931631 III.88 81.1813 X.52 0.931631 III.88 0 rs570108607 yes no Frequency 1 C 0.000000 0 0.001002 0.000115 0.000000 0.000000 0.000000 0.000000 0.001535 0.001435 0.002045 0.001535 31 1 0 0 0 0 23 5 2 30934 8728 836 302 1622 0 14984 3484 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 1 0 0 0 0 23 5 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion G T G>T 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||RASGEF1C|mRNA|CODING|NM_175062|) . . . . . . . 0.0684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146090 RASGEF1C RASGEF1C . . . . . . 103 0.0015852 64976 99 0.00165039 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs570108607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0010 0 0 0 0.0014 0.0015 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs868484653 5 180046426 C G - FLT4 3767 Fms related tyrosine kinase 4 NM_182925.4 -1 5857 4092 NP_891555.2 P35916 substitution intron GRCh37 180046426 180046426 Chr5(GRCh37):g.180046426C>G 2648-60 2648-60 NM_182925.4:c.2648-60G>C p.? p.? 19 18 136352 -60 3' 83.2053 6.30324 0.68129 7.06544 83.2053 6.30324 0.68129 6.86039 0 rs868484653 no no 0 C 0.000000 0 transversion G C G>C 0.000 2.304 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 1.0971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000037280 FLT4 FLT4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr5:180747759 C/T) 5 180747759 C T Not on a known gene +. (chr5:180747764 G/A) 5 180747764 G A Not on a known gene +. (chr5:180747773 C/G) 5 180747773 C G Not on a known gene +. (chr5:180751128 C/A) 5 180751128 C A Not on a known gene +. (chr5:180751540 T/A) 5 180751540 T A Not on a known gene +. (chr5:180751541 T/C) 5 180751541 T C Not on a known gene +. (chr5:180751549 G/A) 5 180751549 G A Not on a known gene +. (chr5:180751581 A/G) 5 180751581 A G Not on a known gene +. (chr5:180751661 C/G) 5 180751661 C G Not on a known gene +. (chr5:180751742 T/C) 5 180751742 T C Not on a known gene +. (chr5:180751967 G/T) 5 180751967 G T Not on a known gene +. (chr5:180752218 T/C) 5 180752218 T C Not on a known gene +. (chr5:180753052 G/A) 5 180753052 G A Not on a known gene +. 5 180795216 G A - OR4F3 8300 Olfactory receptor, family 4, subfamily F, member 3 NM_001005224.1 1 939 939 NP_001005224.1 Q6IEY1 substitution missense exon GRCh37 180795216 180795216 Chr5(GRCh37):g.180795216G>A 929 929 NM_001005224.1:c.929G>A p.Arg310Lys p.Arg310Lys 1 COSM5426378|COSM5426378 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.000 -0.763 R Arg AGG 0.207 K Lys AAG 0.575 310 12 1 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 148.67 0.00 Tolerated 1 IV.32 good 9.973E-1 0.1647 178 PASS . . . . . . . . . . . ENSG00000230178:ENST00000456475:exon1:c.G929A:p.R310K OR4F16:uc011dhm.2:exon1:c.G929A:p.R310K . . . 0.11111111 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.011 . . 45.0 . . . . . . . . . . -1.2516 -1.448 -1.252 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.079 @ . . . 0.39 0.25 182 ENSG00000230178 OR4F16 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.143 . . . . D 0.910 0.304 . . 37 . 0.000 . . 0.012 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.087 . 0.016 . LowAF 1 . . . . . . . . . . . . . III.26 . ENST00000456475 2.IV -1.61 . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.196 -1.196000 . . . . . 1.0E-178 0.001 0.137 . 0.269 0.851 . 0.080 . 0.059 -1.196 -0.066 . rs388753 rs388753 rs388753 rs388753 1 1538 10 1/0 0,255,255 +. (chr5:180893320 A/G) 5 180893320 A G Not on a known gene +. (chr5:180893388 T/A) 5 180893388 T A Not on a known gene +. (chr5:180899202 G/T) 5 180899202 G T Not on a known gene +rs7742004 (chr6:152749 G/C) 6 152749 G C Not on a known gene +. (chr6:707219 CACAT/C) 6 707219 CACAT C Not on a known gene +rs200719704 6 2990119 A G - LINC01011 33812 Long intergenic non-protein coding RNA 1011 NR_026855.1 1 2809 0 substitution exon GRCh37 2990119 2990119 Chr6(GRCh37):g.2990119A>G 1523 1523 NR_026855.1:n.1523A>G 2 1458 3' 0 0 0.000489 0 0 0 0.000489 0 0 Cryptic Acceptor Strongly Activated 2990130 2.68772 0.004217 66.3134 3.53829 0.010099 66.3845 rs200719704 no no 0 G 0.000000 0 transition A G A>G 0.024 -1.005 246 PASS . . . . . . . . . . . . . . . . 0.3043478 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 23.0 . . . . . . . . . . 0.6257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.65 0.47 182 . DKFZP686I15217 LINC01011 . uc003mur.5:c.*43A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200719704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149760129 6 4073691 C G - FAM217A 21362 Family with sequence similarity 217, member A NM_173563.2 -1 2270 1527 NP_775834.2 Q8IXS0 substitution synonymous exon GRCh37 4073691 4073691 Chr6(GRCh37):g.4073691C>G 210 210 NM_173563.2:c.210G>C p.Ser70= p.Ser70Ser 5 -25 5' 80.2281 6.70762 0.81831 0 80.2281 6.70762 0.81831 0 0 Cryptic Acceptor Strongly Activated 4073682 3.40467 0.01743 68.5961 5.65811 0.110855 71.337 rs149760129 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.005487 0.000083 0.000873 0.004039 0.000000 0.000098 0.003910 0.034562 0.008826 0.034562 1519 2 30 41 0 3 495 891 57 276860 24020 34362 10150 18818 30688 126584 25780 6458 0.000166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.001552 0.000000 23 0 0 0 0 0 3 20 0 1473 2 30 41 0 3 489 851 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4406 12981 23 0 23 0.00267504 0 0.00176869 0.00267504 0 0.00176869 89 transversion G C G>C 0.118 -0.037 S Ser TCG 0.056 S Ser TCC 0.220 70 255 PASS . 0.0027 . . 0.01 . 0.001 . . 0.005 . . . FAM217A:NM_173563:exon5:c.G210C:p.S70S . . 0.33333334 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 21.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcC|S70|FAM217A|mRNA|CODING|NM_173563|NM_173563.ex.5) . 0.0018 0.0027 . 0.0018 0.0027 . 0.2076 . . . . . . . . 4.854e-03 . . . 0 0.0029 0.0003 0 0.0311 0.0033 0.0028 6.064e-05 0 0.0044 0.0004 0 0.0333 0.0043 0.0043 6.099e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.35 0.28 182 ENSG00000145975 FAM217A FAM217A . . . . . . 287 0.00441702 64976 282 0.0047011 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149760129 . . . . . . . . . . . . . . . . . . . . . . . 0.001769 . . . . . 6.538e-05 0.0050 0.0009 0.0040 0 0.0348 0.0031 0.0066 9.776e-05 0.0001 0.0092 0.0012 0.0066 0 0.0330 0.0096 0.0214 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149760129 rs149760129 1 1538 10 1/0 0,255,255 +. 6 7586137 C T - DSP 3052 Desmoplakin NM_004415.3 1 9796 8616 NP_004406.2 P15924 substitution 3'UTR GRCh37 7586137 7586137 Chr6(GRCh37):g.7586137C>T *26 *26 NM_004415.3:c.*26C>T p.? p.? 24 125647 3263 3' 93.9735 X.96 0.984927 9.20977 93.9735 X.96 0.984927 9.20977 0 rs957652496 no no 0 C 0.000000 0 transition C T C>T 0.102 0.528 255 PASS . . . . . . . . . . . . . . . . 0.6363636 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . . . . . . . . . 0.8737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000096696 DSP DSP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 10647323 C T - GCNT6 21623 Glucosaminyl (N-acetyl) transferase 6 ENST00000417671.1 1 1176 1176 substitution missense exon GRCh37 10647323 10647323 Chr6(GRCh37):g.10647323C>T 998 998 ENST00000417671.1:c.998C>T p.Pro333Leu p.Pro333Leu 2 61 3' 71.617 0 0.000202 0 71.617 0 0.000202 0 0 transition C T C>T 0.705 0.609 P Pro CCA 0.274 L Leu CTA 0.070 333 11 2 Gorilla -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 0.31 II.94 255 PASS . . . . . . . . . . . ENSG00000205318:ENST00000417671:exon2:c.C998T:p.P333L . . . . 0.5 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000205318 . . . dist\x3d17722\x3bdist\x3d24328 dist\x3d17722\x3bdist\x3d24328 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000417671 0.675 0.675 . 0.280000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.635 0.635000 . . 0.280000 . . 1.0E-255 . . . . . . . . . 0.635 . . . . . . 1 1538 10 1/0 0,255,255 +rs61734277 6 10874905 A C - GCM2 4198 Glial cells missing homolog 2 (Drosophila) NM_004752.3 -1 2365 1521 NP_004743.1 O75603 substitution missense exon GRCh37 10874905 10874905 Chr6(GRCh37):g.10874905A>C 844 844 NM_004752.3:c.844T>G p.Tyr282Asp p.Tyr282Asp 5 603716 262 3' 88.1904 8.64481 0.981108 V.93 88.1904 8.64481 0.981108 V.93 0 Cryptic Donor Strongly Activated 10874908 0.015026 63.8917 0.552088 0.130336 69.4049 rs61734277 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.000000 0.001000 0.000000 0.007000 0.013000 0.008923 0.001664 0.006014 0.016745 0.000159 0.002534 0.012799 0.011050 0.010668 0.016745 2474 40 207 170 3 78 1622 285 69 277246 24032 34420 10152 18870 30782 126730 25792 6468 0.000166 0.000000 0.000058 0.000000 0.000000 0.000195 0.000237 0.000155 0.000618 23 0 1 0 0 3 15 2 2 2428 40 205 170 3 72 1592 281 65 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8494 4399 12893 106 7 113 0.0123256 0.00158874 0.0086883 0.0123256 0.00158874 0.0086883 193 CM1413390 Hyperparathyroidism, association with 25279501 DFP transversion T G T>G 0.000 0.448 Y Tyr TAT 0.438 D Asp GAT 0.461 282 13 8 Frog -2 -3 -6 0.2 I.38 6.II 13 136 54 160 C0 262.28 40.46 Tolerated 0.09 III.16 bad 5.056E-5 0.2175 255 PASS . 0.01 0.01 . 0.01 . 0.0034 0.013 . 0.007 0.001 ENSG00000124827:ENST00000379491:exon5:c.T844G:p.Y282D GCM2:uc003mzn.4:exon5:c.T844G:p.Y282D GCM2:NM_004752:exon5:c.T844G:p.Y282D . . 0.5614035 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.203 . @ . . . . . 1 0.200 . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Gat|Y282D|GCM2|mRNA|CODING|NM_004752|NM_004752.ex.5) 0.0016 0.0087 0.012 0.0016 0.0087 0.012 . -0.6385 -0.669 -0.638 c . . . . . 8.761e-03 . . . 0.0015 0.0085 0.0063 0.0004 0.0121 0.0137 0.0098 0.0032 0.0012 0.0083 0.0060 0.0003 0.0106 0.0124 0.0130 0.0032 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.718 . . exonic exonic exonic . . 0.118 0.0034 . . . 0.34 0.3 182 ENSG00000124827 GCM2 GCM2 . . . 0.000 0.029 . 834 0.0128355 64976 817 0.0136198 59986 Likely_benign . 0 . 0.139 . . . . . . . . . 37 . 0.411 . . 0.438 . . . 0.763 0.090 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.812 . . 0 0 0 0 0 0 . 0.163 . . 0.112 . . . . . . 0 0.555 . . . . . 0.205 . 0.045 . HET 0 rs61734277 . . . . . . . 0.005036630036630037 0.0 0.013812154696132596 0.0 0.0079155672823219 VI.67 0.001873 ENST00000379491 5.V -0.376 . 0.030000 O75603 . . . 0.008688 . 0.280 . . . 0.0016 0.0091 0.0058 0.0172 0.0001 0.0112 0.0131 0.0106 0.0025 0.0018 0.0077 0.0143 0.0033 0.0006 0.0103 0.0108 0.0112 . . 0.283 . -0.187 -0.187000 . . 0.030000 . . 1.0E-255 0.592 0.274 . 0.083 0.006 . 0.498 . 0.243 -0.187 0.042 0.012 . . rs61734277 rs61734277 1 1538 10 1/0 0,255,255 +. 6 15501515 A C - JARID2 6196 Jumonji, AT rich interactive domain 2 NM_004973.3 1 6097 3741 NP_004964.2 Q92833 substitution missense exon GRCh37 15501515 15501515 Chr6(GRCh37):g.15501515A>C 2323 2323 NM_004973.3:c.2323A>C p.Lys775Gln p.Lys775Gln 8 601594 -126 5' 84.5939 VIII.53 0.96011 6.75636 84.5939 VIII.53 0.96011 6.75636 0 transversion A C A>C 1.000 4.806 K Lys AAG 0.575 Q Gln CAG 0.744 775 12 8 Tetraodon 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 353.86 0.00 Deleterious 0.04 III.68 191 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.725 . . 72.0 . . . . . . . . . . 0.5245 0.516 0.524 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.871 . . exonic exonic exonic . . 0.674 @ . . . . . . ENSG00000008083 JARID2 JARID2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.772 0.099 . . 37 . 0.923 . . 0.912 . . . 0.723 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.899 . . 0.742 . . . . . . 0 0.506 . . . . . 0.693 . 0.576 . LowAF 0.06 . . . . . . . . . . . . . 14.7923 . . 5.V 5.V . 0.270000 . . . Name\x3dnsv522265 . . 0.696 . . 5.V . . . . . . . . . . . . . . . . . . . 0.522 . 1.895 1.895000 . . 0.270000 . . 1.0E-191 1.000 0.715 . 0.697 0.999 . 0.596 . 0.866 1.895 1.062 . . . . . 1 1538 10 1.I 0,0,0 +rs61750269 6 15520335 C G - JARID2 6196 Jumonji, AT rich interactive domain 2 NM_004973.3 1 6097 3741 NP_004964.2 Q92833 substitution synonymous exon GRCh37 15520335 15520335 Chr6(GRCh37):g.15520335C>G 3594 3594 NM_004973.3:c.3594C>G p.Gly1198= p.Gly1198Gly 18 601594 36 3' 75.2186 9.44471 0.2459 7.67792 75.2186 9.44471 0.2459 VII.66 0 rs61750269 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.002236 0.000542 0.000320 0.000986 0.000000 0.000195 0.003492 0.005041 0.001083 0.005041 619 13 11 10 0 6 442 130 7 276880 23994 34344 10144 18832 30738 126578 25788 6462 0.000036 0.000000 0.000000 0.000000 0.000000 0.000065 0.000047 0.000078 0.000000 5 0 0 0 0 1 3 1 0 609 13 11 10 0 4 436 128 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4405 12985 20 1 21 0.00232558 0.000226963 0.00161464 0.00232558 0.000226963 0.00161464 72 transversion C G C>G 1.000 0.851 G Gly GGC 0.342 G Gly GGG 0.250 1198 255 PASS . 0.0005 . . 0.0013 . 0.0004 0.0014 . 0.001 . . . . . . 0.625 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . . 0.0002 0.0016 0.0023 0.0002 0.0016 0.0023 . I.15 . . . . . . . . 2.336e-03 . . . 0.0003 0.0013 0.0003 0 0.0045 0.0022 0 0.0002 0.0002 0.0022 0.0004 0 0.0054 0.0035 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.36 0.26 182 ENSG00000008083 JARID2 JARID2 . . . . . . 154 0.00237011 64976 152 0.00253392 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 6 . . . . . . . . . . HET . rs61750269 . 0.043 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522265 0.001615 . . . . IV.82 0.0006 0.0022 0.0003 0.0010 0 0.0047 0.0035 0.0009 0.0002 0.0005 0.0025 0 0 0 0.0072 0.0031 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0023 rs61750269 rs61750269 rs61750269 rs61750269 1 1538 10 1/0 0,255,255 +rs528381715 6 17282528 T A - RBM24 21539 RNA binding motif protein 24 NM_001143942.1 1 2467 711 NP_001137414.1 Q9BX46 substitution intron GRCh37 17282528 17282528 Chr6(GRCh37):g.17282528T>A 169-508 169-508 NM_001143942.1:c.169-508T>A p.? p.? 2 1 617603 -508 3' 75.6527 6.54043 0.219205 6.63502 75.6527 6.54043 0.219205 6.63502 0 rs528381715 yes no Frequency 1 T 0.000000 0 0.001639 0.000000 0.000777 0.006610 0.000000 0.000624 0.002201 0.002614 0.002228 0.006610 256 0 19 54 0 14 136 23 10 156168 14552 24462 8170 11466 22444 61788 8798 4488 0.000013 0.000000 0.000000 0.000245 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 254 0 19 52 0 14 136 23 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.039 2.142 255 PASS . . . . . . . . . . . . . . . . 0.43076923 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . I.13 . . . . . . . . 1.109e-03 . . . 0 0.0017 0 0 0 0.0051 0 0.0005 0 0.0017 0 0 0 0.0052 0 0.0005 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000112183 RBM24 RBM24 . . . . . . 83 0.00127739 64976 83 0.00138366 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs528381715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.26 0 0.0016 0.0008 0.0067 0 0.0034 0.0019 0.0011 0.0006 0 0.0020 0.0012 0.0033 0 0.0014 0.0032 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs12211658 6 17764960 A G - KIF13A 14566 Kinesin family member 13A NM_022113.5 -1 5995 5418 NP_071396.4 Q9H1H9 substitution missense exon GRCh37 17764960 17764960 Chr6(GRCh37):g.17764960A>G 4799 4799 NM_022113.5:c.4799T>C p.Phe1600Ser p.Phe1600Ser 39 605433 218 3' 84.0086 9.52216 0.987525 6.20331 84.0086 9.52216 0.987525 6.20331 0 rs12211658 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.002196 0.000800 0.005100 0.000000 0.004000 0.001400 0.004339 0.000712 0.001083 0.004052 0.000053 0.003533 0.005319 0.011120 0.005606 0.011120 1195 17 37 41 1 108 669 286 36 275434 23866 34176 10118 18780 30568 125784 25720 6422 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000233 0.000000 5 0 0 0 0 0 2 3 0 1185 17 37 41 1 108 665 280 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8337 4055 12392 33 5 38 0.00394265 0.00123153 0.00305712 0.00394265 0.00123153 0.00305712 78 transition T C T>C 1.000 4.887 F Phe TTT 0.454 S Ser TCT 0.185 1600 12 9 Tetraodon -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 353.86 0.00 Tolerated 0.21 III.66 255 PASS 0.002 0.0027 0.0028 . 0.01 0.0008 0.0022 0.0014 . 0.004 0.0051 . . . . . 0.43786982 . . @ 74 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.914 . @ . . . . . 1 0.966 . . 169.0 . . . 0.0012 0.0031 0.0039 0.0012 0.0031 0.0039 . 0.7222 0.770 0.722 c . . . . . 4.308e-03 . . . 0.0012 0.0037 0.0007 0 0.0114 0.0047 0.0015 0.0042 0.0014 0.0045 0.0008 0 0.0114 0.0056 0.0046 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.531 . . exonic exonic exonic . . 0.990 0.0022 . . . 0.51 0.5 182 ENSG00000137177 KIF13A KIF13A . . . 1.000 0.747 . 360 0.00554051 64976 349 0.00581802 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.504 . . 0.534 . . . 0.510 0.530 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.621 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.912 . . . . . 0.850 . 0.799 . HET 0 rs12211658 . . . . . . . 0.0027472527472527475 0.0020325203252032522 0.0027624309392265192 0.0 0.005277044854881266 16.6512 0.001183 . 6.VIII 6.VIII . 0.070000 . . . . 0.003057 . 0.934 . . 6.VIII 0.0007 0.0043 0.0010 0.0042 5.827e-05 0.0114 0.0052 0.0050 0.0035 0.0008 0.0047 0.0036 0 0 0.0092 0.0064 0.0092 . . 0.730 . 2.333 2.333000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.927 . 0.893 2.333 1.062 0.01 rs12211658 rs12211658 rs12211658 rs12211658 1 1538 10 1/0 0,236,255 +rs760143330 6 17850523 C G - KIF13A 14566 Kinesin family member 13A NM_022113.5 -1 5995 5418 NP_071396.4 Q9H1H9 substitution intron GRCh37 17850523 17850523 Chr6(GRCh37):g.17850523C>G 717+31 717+31 NM_022113.5:c.717+31G>C p.? p.? 8 8 605433 31 5' 82.9658 8.05386 0.964492 4.57376 82.9658 8.05386 0.964492 4.45894 0 rs760143330 yes no Frequency 1 C 0.000000 0 0.000011 0.000000 0.000033 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000033 3 0 1 0 0 0 2 0 0 261222 23722 30396 8892 18072 27610 121330 25178 6022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.525 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.5772 . . . . . . . . 8.000e-06 . . . 0 1.163e-05 0 0 0 0 0 7.302e-05 0 9.854e-06 0 0 0 0 0 7.353e-05 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000137177 KIF13A KIF13A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs760143330 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv516012 . . . . . . 0 8.685e-06 3.383e-05 0 0 0 9.404e-06 0 0 0 3.231e-05 0 0 0 0 6.67e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 17850524 A C - KIF13A 14566 Kinesin family member 13A NM_022113.5 -1 5995 5418 NP_071396.4 Q9H1H9 substitution intron GRCh37 17850524 17850524 Chr6(GRCh37):g.17850524A>C 717+30 717+30 NM_022113.5:c.717+30T>G p.? p.? 8 8 605433 30 5' 82.9658 8.05386 0.964492 4.57376 82.9658 8.05386 0.964492 5.22275 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 2 0 0 0 0 0 2 0 0 261764 23718 30446 8934 18088 27742 121556 25236 6044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.53846157 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.7362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000137177 KIF13A KIF13A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv516012 . . . . . . 0 4.332e-06 0 0 0 0 9.382e-06 0 0 0 3.236e-05 0 0 0 0 6.681e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs776017320 6 25778117 T C - SLC17A4 10932 Solute carrier family 17, member 4 NM_005495.2 1 3600 1494 NP_005486.1 Q9Y2C5 substitution intron GRCh37 25778117 25778117 Chr6(GRCh37):g.25778117T>C 1269-37 1269-37 NM_005495.2:c.1269-37T>C p.? p.? 11 10 604216 -37 3' 90.2565 XI.53 0.90455 5.57396 90.2565 XI.53 0.90455 V.91 0 rs776017320 yes no Frequency 1 T 0.000000 0 0.000037 0.000000 0.000118 0.000000 0.000106 0.000000 0.000032 0.000000 0.000000 0.000118 10 0 4 0 2 0 4 0 0 273480 24000 33974 10016 18802 30052 125232 25014 6390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 4 0 2 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.024 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.60465115 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.4716 . . . . . . . . 3.157e-05 . . . 0 3.319e-05 0 0.0002 0 4.767e-05 0 0 0 3.779e-05 0 0.0003 0 3.692e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146039 SLC17A4 SLC17A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776017320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.299e-05 0.0001 0 0.0001 0 1.814e-05 0 0 0 6.461e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200114666 6 25820157 G A - SLC17A1 10929 Solute carrier family 17 (sodium phosphate), member 1 NM_005074.3 -1 1844 1404 NP_005065.2 Q14916 substitution intron GRCh37 25820157 25820157 Chr6(GRCh37):g.25820157G>A 208-14 208-14 NM_005074.3:c.208-14C>T p.? p.? 4 3 182308 -14 3' 81.1958 XI.13 0.963978 VI.98 83.9687 XI.39 0.978023 6.90084 0.0149069 rs200114666 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.017400 0.001000 0.004000 0.004300 0.005048 0.000508 0.002063 0.015673 0.000217 0.013832 0.005641 0.001640 0.005252 0.015673 1278 12 65 123 4 346 657 40 31 253166 23638 31506 7848 18410 25014 116464 24384 5902 0.000079 0.000000 0.000000 0.000255 0.000000 0.000560 0.000034 0.000000 0.000000 10 0 0 1 0 7 2 0 0 1258 12 65 121 4 332 653 40 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8558 4392 12950 38 6 44 0.00442066 0.00136426 0.00338618 0.00442066 0.00136426 0.00338618 48 transition C T C>T 0.000 0.528 255 PASS . 0.0023 . 0.0017 0.01 . 0.005 0.0043 0.001 0.004 0.017 . . . . . 0.42857143 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||SLC17A1|mRNA|CODING|NM_005074|) 0.0014 0.0034 0.0044 0.0014 0.0034 0.0044 . 0.1478 . . . . . . . . 5.691e-03 . . . 0.0009 0.0062 0.0015 0.0002 0.0008 0.0072 0.0049 0.0169 0.0007 0.0059 0.0014 0.0003 0.0018 0.0068 0.0049 0.0167 . . . . . . intronic intronic intronic . . . 0.0050 . . . 0.27 0.25 182 ENSG00000124568 SLC17A1 SLC17A1 . . . . . . 283 0.00435545 64976 258 0.004301 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200114666 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv883489 0.003386 . . . . . 0.0006 0.0054 0.0020 0.0152 0.0002 0.0017 0.0059 0.0055 0.0138 0.0003 0.0028 0.0048 0.0265 0 0.0014 0.0042 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs200114666 rs200114666 1 1538 10 1/0 0,255,255 +rs868309108 6 26104071 G A - HIST1H4C 4787 Histone cluster 1, H4c NM_003542.3 1 390 312 NP_003533.1 P62805 substitution upstream GRCh37 26104071 26104071 Chr6(GRCh37):g.26104071G>A -105 -105 NM_003542.3:c.-105G>A p.? p.? 1 602827 rs868309108 no no 0 G 0.000000 0 transition G A G>A 0.000 0.286 227 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 29.0 . . . . . . . . . . I.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000197061 HIST1H4C HIST1H4C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv428137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200552384 6 26851103 A G - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26851103 26851103 Chr6(GRCh37):g.26851103A>G 844+19 844+19 NR_003504.3:n.844+19T>C p.? p.? 6 6 19 5' 94.2214 9.88355 0.998508 V.99 94.2214 9.88355 0.998508 V.54 0 rs200552384 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30776 8692 828 292 1606 0 14912 3476 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 38 Genomes transition T C T>C 0.024 1.013 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.1598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.16 0.16 182 ENSG00000241549 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200552384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs2258488 rs2258488 rs2258488 rs200552384 1 1538 10 1/0 0,255,255 +. 6 26866197 G A - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26866197 26866197 Chr6(GRCh37):g.26866197G>A 397-9221 397-9221 NR_003504.3:n.397-9221C>T p.? p.? 4 3 -9221 3' 88.7067 11.1555 0.945787 9.78264 88.7067 11.1555 0.945787 9.78264 0 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000091 0.000000 0.000000 0.000091 1 0 0 0 0 0 1 0 0 24868 7866 674 180 1366 0 10934 3124 724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 29 Genomes transition C T C>T 0.012 -0.521 210 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.3739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000243307 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.021e-05 0 0 0 0 9.146e-05 0 . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs10946862 6 26866808 A G - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26866808 26866808 Chr6(GRCh37):g.26866808A>G 397-9832 397-9832 NR_003504.3:n.397-9832T>C p.? p.? 4 3 -9832 3' 88.7067 11.1555 0.945787 9.78264 88.7067 11.1555 0.945787 9.78264 0 rs10946862 yes no Frequency/1000G 2 0.000000 0 0.002796 0.002300 0.004100 0.002000 0.004000 0.001400 0.000572 0.000244 0.001323 0.000000 0.000680 0.000000 0.000836 0.000000 0.001163 0.001323 16 2 1 0 1 0 11 0 1 27982 8212 756 274 1470 0 13160 3250 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 1 0 1 0 11 0 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.142 0.205 187 PASS . . . . . 0.0023 0.0028 0.0014 0.002 0.004 0.0041 . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.2593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.0028 . . . 0.21 0.07 182 ENSG00000241549 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs10946862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0006 0.0013 0 0.0007 0 0.0008 0.0012 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs10946862 rs10946862 rs10946862 rs10946862 1 1538 10 1/0 0,255,255 +rs10946863 6 26866814 T G - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26866814 26866814 Chr6(GRCh37):g.26866814T>G 397-9838 397-9838 NR_003504.3:n.397-9838A>C p.? p.? 4 3 -9838 3' 88.7067 11.1555 0.945787 9.78264 88.7067 11.1555 0.945787 9.78264 0 Cryptic Acceptor Strongly Activated 26866808 6.75062 0.020516 76.2166 8.86063 0.217516 79.9017 rs10946863 no no 0 0.000000 0 0.002550 0.001390 0.001433 0.000000 0.001420 0.000000 0.003679 0.001340 0.005038 0.003679 67 11 1 0 2 0 45 4 4 26274 7916 698 244 1408 0 12230 2984 794 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 11 1 0 2 0 45 4 4 0 0 0 0 0 0 0 0 0 RF 46 Genomes transversion A C A>C 0.047 -1.893 153 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.8052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.24 0.05 182 ENSG00000241549 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10946863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0026 0.0014 0 0.0014 0.0013 0.0037 0.0050 . . . . . . . . . . . 1.0E-153 . . . . . . . . . . . . rs10946863 rs10946863 rs10946863 rs10946863 1 1538 10 1/0 0,255,255 +. 6 26867131 C G - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26867131 26867131 Chr6(GRCh37):g.26867131C>G 397-10155 397-10155 NR_003504.3:n.397-10155G>C p.? p.? 4 3 -10155 3' 88.7067 11.1555 0.945787 9.78264 88.7067 11.1555 0.945787 9.78264 0 transversion G C G>C 0.087 0.286 186 PASS . . . . . . . . . . . . . . . . 0.12820514 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.3094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000241549 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 29760370 GCA G - HCG4 21241 HLA complex group 4 (non-protein coding) NR_002139.2 -1 2043 0 delins exon GRCh37 29760370 29760372 Chr6(GRCh37):g.29760370_29760372delinsG 479 481 NR_002139.2:n.479_481delinsC 1 C GCT 255 Pass . . . . . . . . . . . . . . . . 0.40449437 . . . 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . . LOC554223 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,39 +rs2905755 6 29760373 A C - HCG4 21241 HLA complex group 4 (non-protein coding) NR_002139.2 -1 2043 0 substitution exon GRCh37 29760373 29760373 Chr6(GRCh37):g.29760373A>C 478 478 NR_002139.2:n.478T>G 1 rs2905755 yes no Frequency/1000G 2 A 0.000000 0 0.378794 0.594600 0.369100 0.192500 0.301200 0.364600 0.000041 0.000134 0.000039 0.000126 0.000153 0.000000 0.000027 0.000000 0.000000 0.000153 7 1 1 1 2 0 2 0 0 170358 7450 25392 7952 13030 23442 72790 16140 4162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 1 1 2 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 67 Exomes transversion T G T>G 1.000 1.013 204 PASS . . . . . 0.59 0.38 0.36 0.19 0.3 0.37 . LOC554223:uc003nnt.3:exon2:c.A458C:p.Q153P . . . 0.11363637 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . 0.7828 . . . . . . . . 1.249e-05 . . . 0 0.0001 0.0013 0 0 0 0 0 0 8.288e-05 0.0013 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.3788 . . . 0.35 0.38 182 . LOC554223 . . . . . . . 7433 0.114396 64976 6292 0.104891 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.109e-05 3.938e-05 0.0001 0.0002 0 2.748e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs2905755 rs2905755 rs2905755 rs2905755 1 1538 10 1/0 0,255,255 +rs200058965 6 29855862 A G - HLA-H 4965 Major histocompatibility complex, class I, H (pseudogene) NR_001434.3 1 1519 0 substitution exon GRCh37 29855862 29855862 Chr6(GRCh37):g.29855862A>G 202 202 NR_001434.3:n.202A>G 2 131 3' 84.7602 6.56891 0.957073 5.28855 84.7602 6.56891 0.957073 5.28855 0 rs200058965 yes no Frequency 1 A 0.000000 0 0.000109 0.000231 0.000056 0.000000 0.000000 0.000053 0.000127 0.000257 0.000000 0.000257 14 2 1 0 0 1 7 3 0 128710 8640 17868 5324 8270 18736 55200 11658 3014 0.071429 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 1 0 0 0 0 0 0 1 0 12 2 1 0 0 1 7 1 0 0 0 0 0 0 0 0 0 0 RF 119 Exomes transition A G A>G 0.236 0.125 255 PASS . . . . . . . . . . . . HLA-H:uc010jro.3:exon2:c.A210G:p.R70R . . . 0.4076923 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 130.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R68G|HLA-H|Non-coding_transcript|NON_CODING|NR_001434.5|NR_001434.5.ex.2) . . . . . . . 0.4696 . . . . . . . . . . . . 0.0008 0.0003 0.0002 0 0.0007 0.0004 0 0.0001 0.0009 0.0005 0.0002 0 0.0008 0.0006 0 0.0001 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.42 0.51 182 . HLA-H HLA-H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 5.597e-05 0 0 0.0003 0.0001 0 5.337e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200058965 rs200058965 1 1538 10 1/0 0,241,255 +rs200854025 6 29855863 G A - HLA-H 4965 Major histocompatibility complex, class I, H (pseudogene) NR_001434.3 1 1519 0 substitution exon GRCh37 29855863 29855863 Chr6(GRCh37):g.29855863G>A 203 203 NR_001434.3:n.203G>A 2 132 3' 84.7602 6.56891 0.957073 5.28855 84.7602 6.56891 0.957073 5.28855 0 rs200854025 yes no Frequency 1 G 0.000000 0 0.000126 0.000371 0.000000 0.000000 0.000000 0.000059 0.000160 0.000214 0.000000 0.000371 14 3 0 0 0 1 8 2 0 110870 8076 13446 4434 5896 17022 50060 9360 2576 0.071429 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 1 0 0 0 0 0 0 1 0 12 3 0 0 0 1 8 0 0 0 0 0 0 0 0 0 0 0 PASS 140 Exomes transition G A G>A 0.197 -0.521 255 PASS . . . . . . . . . . . . HLA-H:uc010jro.3:exon2:c.G211A:p.E71K . . . 0.3846154 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 130.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R68K|HLA-H|Non-coding_transcript|NON_CODING|NR_001434.5|NR_001434.5.ex.2) . . . . . . . 0.3485 . . . . . . . . 7.731e-04 . . . 0.0006 0.0003 0.0002 0 0 0.0004 0 0.0001 0.0007 0.0004 0.0002 0 0 0.0006 0 0.0001 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.38 0.55 182 . HLA-H HLA-H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0.0002 0.0002 0 5.875e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200854025 rs200854025 1 1538 10 1/0 0,239,255 +rs201660016 6 29855864 A T - HLA-H 4965 Major histocompatibility complex, class I, H (pseudogene) NR_001434.3 1 1519 0 substitution exon GRCh37 29855864 29855864 Chr6(GRCh37):g.29855864A>T 204 204 NR_001434.3:n.204A>T 2 133 3' 84.7602 6.56891 0.957073 5.28855 84.7602 6.56891 0.957073 5.28855 0 rs201660016 yes no Frequency 1 A 0.000000 0 0.000039 0.000000 0.000000 0.000000 0.000122 0.000054 0.000055 0.000000 0.000000 0.000122 5 0 0 0 1 1 3 0 0 128082 8650 17672 5188 8224 18542 55028 11776 3002 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 119 Exomes transversion A T A>T 0.213 -1.005 255 PASS . . . . . . . . . . . . HLA-H:uc010jro.3:exon2:c.A212T:p.E71V . . . 0.4047619 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R68S|HLA-H|Non-coding_transcript|NON_CODING|NR_001434.5|NR_001434.5.ex.2) . . . . . . . 0.3047 . . . . . . . . 1.358e-04 . . . 0.0002 9.335e-05 0 0.0004 0 7.937e-05 0 8.673e-05 0.0002 8.206e-05 0 0.0003 0 6.367e-05 0 8.72e-05 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.41 0.52 182 . HLA-H HLA-H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.904e-05 0 0 0.0001 0 5.452e-05 0 5.393e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201660016 rs201660016 1 1538 10 1/0 0,242,255 +rs878999200 6 29911799 T C - HLA-A 4931 Major histocompatibility complex, class I, A NM_001242758.1 1 1611 1098 NP_001229687.1 P30443 substitution intron GRCh37 29911799 29911799 Chr6(GRCh37):g.29911799T>C 620-100 620-100 NM_001242758.1:c.620-100T>C p.? p.? 4 3 142800 -100 3' 81.7382 7.90351 0.770029 7.55749 81.7382 7.90351 0.770029 7.55749 0 rs878999200 no no 0 T 0.000000 0 0.001135 0.000967 0.000000 0.003759 0.001416 0.000000 0.001339 0.000922 0.000000 0.003759 30 7 0 1 2 0 17 3 0 26434 7242 702 266 1412 0 12700 3254 858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 7 0 1 2 0 17 3 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition T C T>C 0.000 -1.409 201 PASS . . . . . . . . . . . . . . . . 0.16153847 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.3374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000206503 . HLA-A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0011 0 0.0038 0.0014 0.0009 0.0013 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +. 6 29911823 A G - HLA-A 4931 Major histocompatibility complex, class I, A NM_001242758.1 1 1611 1098 NP_001229687.1 P30443 substitution intron GRCh37 29911823 29911823 Chr6(GRCh37):g.29911823A>G 620-76 620-76 NM_001242758.1:c.620-76A>G p.? p.? 4 3 142800 -76 3' 81.7382 7.90351 0.770029 7.55749 81.7382 7.90351 0.770029 7.70574 0 New Acceptor Site 29911824 9.21508 0.710995 86.7429 transition A G A>G 0.000 0.044 191 PASS . . . . . . . . . . . . . . . . 0.13809524 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . 0.0571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000206503 . HLA-A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,255 +rs141520003 6 30104816 G A - TRIM40 18736 Tripartite motif containing 40 NM_001286633.1 1 2086 777 NP_001273562.1 Q6P9F5 substitution start loss exon GRCh37 30104816 30104816 Chr6(GRCh37):g.30104816G>A 3 3 NM_001286633.1:c.3G>A p.? p.? 2 616976 307 3' 85.2418 8.14515 0.957785 5.88018 85.2418 8.14515 0.957785 5.88018 0 rs141520003 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.001602 0.000392 0.000817 0.000604 0.000373 0.000853 0.002692 0.000431 0.002670 0.002692 434 9 28 6 7 26 330 11 17 270866 22936 34280 9940 18750 30466 122580 25546 6368 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 432 9 28 6 7 26 328 11 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5394 3021 8415 22 1 23 0.00406204 0.000330907 0.00272576 0.00406204 0.000330907 0.00272576 60 transition G A G>A 0.764 1.416 M Met ATG 1.000 I Ile ATA 0.163 1 255 PASS . 0.0014 . . 0.004 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.48623854 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.518 . @ . . . . . 0 0.546 . . 109.0 . . . 0.0003 0.0027 0.0041 0.0003 0.0027 0.0041 . -0.0966 -0.258 -0.097 c . . . . . 1.648e-03 . . . 0.0002 0.0018 0.0007 0.0002 0 0.0032 0.0015 0.0008 0 0.0015 0.0006 0.0003 0.0008 0.0025 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.643 . . exonic exonic exonic . . 0.425 0.0010 . . . 0.25 0.48 182 ENSG00000204614 TRIM40 TRIM40 . . . 0.997 0.348 . 116 0.00178527 64976 111 0.00185043 59986 Uncertain_significance . 0 . 0.449 . . . . D 0.932 0.391 . . 37 . 0.642 . . 0.692 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.604 . . 0.623 . . . . . . 0 0.912 . . . . . 0.318 . 0.723 . HET 0 . . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 VIII.91 6.59E-4 . IV.65 III.78 . 0.000000 . . . Name\x3desv2731777 0.002726 . 0.231 . . III.78 0.0004 0.0016 0.0008 0.0005 0.0004 0.0005 0.0028 0.0026 0.0009 0.0003 0.0013 0.0012 0.0033 0 0 0.0021 0.0031 . . 0.083 . 1.156 1.156000 . . 0.000000 . . 1.0E-255 0.871 0.306 . 0.182 0.069 . 0.385 . 0.410 1.156 0.830 0.0041 . . rs141520003 rs141520003 1 1538 10 1/0 0,254,255 +. 6 30313406 C G - RPP21 21300 Ribonuclease P/MRP 21kDa subunit NM_001199120.1 1 580 489 NP_001186049.1 substitution intron GRCh37 30313406 30313406 Chr6(GRCh37):g.30313406C>G 265+56 265+56 NM_001199120.1:c.265+56C>G p.? p.? 3 3 612524 56 5' 79.2719 9.21555 0.974011 XI.13 79.2719 9.21555 0.974011 XII.31 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8298 2034 192 100 952 0 4688 98 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 119 Genomes transversion C G C>G 0.000 -3.507 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . 0.2680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5241 . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +. 6 30313406 C G - TRIM39 10065 Tripartite motif-containing 39 NM_021253.3 1 3339 1557 NP_067076.2 Q9HCM9 substitution downstream GRCh37 30313406 30313406 Chr6(GRCh37):g.30313406C>G *3370 *3370 NM_021253.3:c.*3370C>G p.? p.? 9 605700 3918 3' 80.7099 7.74927 0.291953 VII.26 80.7099 7.74927 0.291953 VII.26 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8298 2034 192 100 952 0 4688 98 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 119 Genomes transversion C G C>G 0.000 -3.507 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . 0.2680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5241 . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +. 6 30313406 C G - TRIM39-RPP21 38845 TRIM39-RPP21 readthrough NM_001199119.1 1 1567 1512 NP_001186048.1 substitution intron GRCh37 30313406 30313406 Chr6(GRCh37):g.30313406C>G 1288+56 1288+56 NM_001199119.1:c.1288+56C>G p.? p.? 8 8 56 5' 79.2719 9.21555 0.974011 XI.13 79.2719 9.21555 0.974011 XII.31 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8298 2034 192 100 952 0 4688 98 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 119 Genomes transversion C G C>G 0.000 -3.507 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . 0.2680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5241 . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +rs145831378 6 30514529 G A - GNL1 4413 Guanine nucleotide binding protein-like 1 NM_005275.3 -1 7910 1824 NP_005266.2 P36915 substitution missense exon GRCh37 30514529 30514529 Chr6(GRCh37):g.30514529G>A 1526 1526 NM_005275.3:c.1526C>T p.Ala509Val p.Ala509Val 11 143024 -57 5' 84.4819 6.80373 0.754243 5.50684 84.4819 6.80373 0.754243 5.10675 0 Cryptic Donor Weakly Activated 30514531 58.6133 0.668974 0.003778 63.9968 rs145831378 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.008200 0.000000 0.007000 0.001400 0.003490 0.000306 0.002801 0.015297 0.000800 0.005207 0.003827 0.000428 0.005641 0.015297 948 7 96 153 15 159 471 11 36 271646 22902 34276 10002 18744 30534 123078 25728 6382 0.000029 0.000000 0.000000 0.000000 0.000000 0.000066 0.000049 0.000000 0.000000 4 0 0 0 0 1 3 0 0 940 7 96 153 15 157 465 11 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5390 3015 8405 26 1 27 0.00480059 0.000331565 0.00320209 0.00480059 0.000331565 0.00320209 82 COSM4160558 Thyroid 0.001339 747 transition C T C>T 0.992 3.676 A Ala GCA 0.226 V Val GTA 0.114 509 12 9 Tetraodon 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 251.40 0.00 Tolerated 0.35 3.IX good 6.814E-1 0.284 255 PASS . . . . . . 0.0032 0.0014 . 0.007 0.0082 ENSG00000204590:ENST00000376621:exon11:c.C1526T:p.A509V . GNL1:NM_005275:exon11:c.C1526T:p.A509V . . 0.4375 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.531 . @ . . . . . 1 0.837 . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A509V|GNL1|mRNA|CODING|NM_005275.5|NM_005275.5.ex.11) 0.0003 0.0032 0.0048 0.0003 0.0032 0.0048 . 0.1613 0.322 0.161 c . . . . . 3.656e-03 . . . 0.0003 0.0043 0.0031 0.0004 0 0.0060 0.0030 0.0059 0 0.0037 0.0029 0.0004 0.0008 0.0046 0.0015 0.0059 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . 0.793 0.0032 . . . 0.59 0.25 182 ENSG00000204590 GNL1 GNL1 . . . 1.000 0.747 . 171 0.00263174 64976 155 0.00258394 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.223 . . 0.046 . . . 0.427 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.571 . . 0 0 0 0 0 0 . 0.360 . . 0.324 . . . . . . 0 0.346 . . . . . 0.533 . 0.422 . HET 0 . . . . . . . ID\x3dCOSM4160558\x3bOCCURENCE\x3d1(thyroid) . . . . . 12.1818 6.61E-4 . V.44 V.44 . 0.280000 . . . . 0.003202 . 0.744 . . V.44 0.0003 0.0037 0.0028 0.0148 0.0008 0.0005 0.0040 0.0057 0.0052 0.0003 0.0019 0.0012 0.0298 0.0006 0 0.0026 0.0051 . . 0.730 . 2.560 2.560000 . . 0.280000 . . 1.0E-255 1.000 0.715 . 0.562 0.991 . 0.766 . 0.713 2.560 0.917 0.0048 . . rs145831378 rs145831378 1 1538 10 1/0 0,255,255 +rs200569280 6 30673085 C T - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution missense exon GRCh37 30673085 30673085 Chr6(GRCh37):g.30673085C>T 3875 3875 NM_014641.2:c.3875G>A p.Arg1292Gln p.Arg1292Gln 10 607593 791 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 rs200569280 yes no Frequency 1 T 0.000000 0 0.000286 0.000252 0.000843 0.000112 0.000340 0.000276 0.000210 0.000169 0.000000 0.000843 63 4 21 1 4 7 22 4 0 220270 15896 24912 8922 11762 25346 104988 23696 4748 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 4 21 1 4 7 22 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3733953 Pancreas 0.001138 1758 transition G A G>A 0.000 0.125 R Arg CGG 0.207 Q Gln CAG 0.744 1292 10 1 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 1 III.62 good 9.94E-1 0.05261 182 PASS . . . . . . . . . . . . . MDC1:NM_014641:exon10:c.G3875A:p.R1292Q . . 0.11764706 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.127 . @ . . . . . 1 0.042 . . 272.0 . . . . . . . . . . -1.4884 -1.443 -1.488 c . . . . . 1.657e-04 . . . 0 0.0002 0.0006 0.0004 0 9.599e-05 0 0.0001 0 0.0002 0.0006 0.0005 0 0.0001 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.036 . . exonic exonic exonic . . 0.244 @ . . . 0.22 0.07 182 ENSG00000137337 MDC1 MDC1 . . . 0.730 0.230 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.003 . . 0.323 . . . 0.000 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.029 . . 0 0 0 0 0 0 . 0.281 . . 0.179 . . . . . . 1 0.010 . . . . . 0.137 . 0.014 . LowAF 0.15 rs200569280 . . . . . . . . . . . . 5.0301 . . 3.VI I.87 . 0.610000 . . . . . . 0.001 . . . 0 0.0002 0.0009 0.0001 0.0004 0 0.0001 0 0.0003 0.0008 0.0010 0 0 0 0.0019 0.0012 0 . . 0.730 . 0.132 0.132000 . . 0.610000 . . 1.0E-182 0.005 0.169 . 0.142 0.035 . 0.250 . 0.131 0.132 -0.119 . . . rs200569280 rs200569280 1 1538 10 1/0 0,185,255 +rs200569280 6 30673085 C T - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673085 30673085 Chr6(GRCh37):g.30673085C>T 127+2115 127+2115 NR_133647.1:n.127+2115C>T p.? p.? 1 1 2115 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs200569280 yes no Frequency 1 T 0.000000 0 0.000286 0.000252 0.000843 0.000112 0.000340 0.000276 0.000210 0.000169 0.000000 0.000843 63 4 21 1 4 7 22 4 0 220270 15896 24912 8922 11762 25346 104988 23696 4748 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 4 21 1 4 7 22 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3733953 Pancreas 0.001138 1758 transition C T C>T 0.000 0.125 182 PASS . . . . . . . . . . . . . MDC1:NM_014641:exon10:c.G3875A:p.R1292Q . . 0.11764706 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.127 . @ . . . . . 1 0.042 . . 272.0 . . . . . . . . . . -1.4884 -1.443 -1.488 c . . . . . 1.657e-04 . . . 0 0.0002 0.0006 0.0004 0 9.599e-05 0 0.0001 0 0.0002 0.0006 0.0005 0 0.0001 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.036 . . exonic exonic exonic . . 0.244 @ . . . 0.22 0.07 182 ENSG00000137337 MDC1 MDC1 . . . 0.730 0.230 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.003 . . 0.323 . . . 0.000 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.029 . . 0 0 0 0 0 0 . 0.281 . . 0.179 . . . . . . 1 0.010 . . . . . 0.137 . 0.014 . LowAF 0.15 rs200569280 . . . . . . . . . . . . 5.0301 . . 3.VI I.87 . 0.610000 . . . . . . 0.001 . . . 0 0.0002 0.0009 0.0001 0.0004 0 0.0001 0 0.0003 0.0008 0.0010 0 0 0 0.0019 0.0012 0 . . 0.730 . 0.132 0.132000 . . 0.610000 . . 1.0E-182 0.005 0.169 . 0.142 0.035 . 0.250 . 0.131 0.132 -0.119 . . . rs200569280 rs200569280 1 1538 10 1/0 0,185,255 +rs61741916 6 30673105 C G - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution synonymous exon GRCh37 30673105 30673105 Chr6(GRCh37):g.30673105C>G 3855 3855 NM_014641.2:c.3855G>C p.Val1285= p.Val1285Val 10 607593 771 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 Cryptic Acceptor Strongly Activated 30673097 5.12474 0.187351 6.37549 0.587264 rs61741916 yes no Frequency 1 G 0.000000 0 0.000511 0.001710 0.000226 0.000000 0.000536 0.000829 0.000387 0.000167 0.001395 0.001710 117 30 6 0 7 21 42 4 7 228994 17542 26560 8954 13058 25342 108562 23958 5018 0.000009 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 115 30 6 0 7 19 42 4 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3830018|COSM3830018 Thyroid|Breast 0.001305|0.000404 766|2474 transversion G C G>C 0.000 -2.054 V Val GTG 0.468 V Val GTC 0.240 1285 194 PASS . . . . . . . . . . . . . MDC1:NM_014641:exon10:c.G3855C:p.V1285V . . 0.14469454 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 311.0 . . . . . . . . . . -0.8335 . . . . . . . . 1.026e-04 . . . 0.0008 0.0001 8.75e-05 0 0 4.928e-05 0 0 0.0011 0.0001 9.02e-05 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.07 182 ENSG00000137337 MDC1 MDC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs61741916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0004 0.0002 0 0.0006 0 0.0003 0.0014 0.0008 0.0026 0.0017 0 0 0 0.0015 0.0015 0.0014 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs61741916 rs61741916 rs61741916 rs61741916 1 1538 10 1/0 0,181,255 +rs61741916 6 30673105 C G - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673105 30673105 Chr6(GRCh37):g.30673105C>G 127+2135 127+2135 NR_133647.1:n.127+2135C>G p.? p.? 1 1 2135 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs61741916 yes no Frequency 1 G 0.000000 0 0.000511 0.001710 0.000226 0.000000 0.000536 0.000829 0.000387 0.000167 0.001395 0.001710 117 30 6 0 7 21 42 4 7 228994 17542 26560 8954 13058 25342 108562 23958 5018 0.000009 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 115 30 6 0 7 19 42 4 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3830018|COSM3830018 Thyroid|Breast 0.001305|0.000404 766|2474 transversion C G C>G 0.000 -2.054 194 PASS . . . . . . . . . . . . . MDC1:NM_014641:exon10:c.G3855C:p.V1285V . . 0.14469454 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 311.0 . . . . . . . . . . -0.8335 . . . . . . . . 1.026e-04 . . . 0.0008 0.0001 8.75e-05 0 0 4.928e-05 0 0 0.0011 0.0001 9.02e-05 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.07 182 ENSG00000137337 MDC1 MDC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs61741916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0004 0.0002 0 0.0006 0 0.0003 0.0014 0.0008 0.0026 0.0017 0 0 0 0.0015 0.0015 0.0014 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs61741916 rs61741916 rs61741916 rs61741916 1 1538 10 1/0 0,181,255 +rs114458930 6 30673288 G T - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution synonymous exon GRCh37 30673288 30673288 Chr6(GRCh37):g.30673288G>T 3672 3672 NM_014641.2:c.3672C>A p.Thr1224= p.Thr1224Thr 10 607593 588 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 rs114458930 yes no Frequency/1000G 2 T 0.000000 0 0.029752 0.025700 0.068500 0.019800 0.016900 0.015900 0.004630 0.010065 0.002158 0.004358 0.004151 0.008670 0.003559 0.003572 0.007650 0.010065 1180 213 66 41 71 232 424 89 44 254838 21162 30590 9408 17104 26758 119148 24916 5752 0.000149 0.000284 0.000000 0.000000 0.000351 0.000673 0.000017 0.000000 0.001043 19 3 0 0 3 9 1 0 3 1142 207 66 41 65 214 422 89 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4296 12762 134 110 244 0.0155814 0.024966 0.0187606 0.0155814 0.024966 0.0187606 162 transversion C A C>A 0.000 0.044 T Thr ACC 0.361 T Thr ACA 0.280 1224 255 PASS 0.02 0.01 0.01 0.01 0.01 0.026 0.03 0.016 0.02 0.017 0.069 . . MDC1:NM_014641:exon10:c.C3672A:p.T1224T . . 0.5473684 . . @ 104 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 190.0 . . . 0.025 0.019 0.016 0.025 0.019 0.016 . -0.8947 . . . . . . . . 7.841e-03 . . . 0.0095 0.0095 0.0019 0.0050 0.0019 0.0070 0.0071 0.0254 0.0080 0.0076 0.0018 0.0023 0.0023 0.0051 0.0044 0.0254 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0298 . . . 0.18 0.08 182 ENSG00000137337 MDC1 MDC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs114458930 . . . . . . . 0.013736263736263736 0.024390243902439025 0.011049723756906077 0.006993006993006993 0.013192612137203167 III.77 0.025147 ENST00000417033 II.88 I.62 . . . . . . 0.018761 . . . . . 0.0078 0.0041 0.0021 0.0040 0.0040 0.0032 0.0031 0.0067 0.0087 0.0144 0.0094 0.0042 0.0157 0.0062 0.0065 0.0075 0.0139 . . . . -0.072 -0.072000 . . . . . 1.0E-255 . . . . . . . . . -0.072 . 0.025 . . rs114458930 rs114458930 1 1538 10 1/0 0,235,246 +rs114458930 6 30673288 G T - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673288 30673288 Chr6(GRCh37):g.30673288G>T 127+2318 127+2318 NR_133647.1:n.127+2318G>T p.? p.? 1 1 2318 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs114458930 yes no Frequency/1000G 2 T 0.000000 0 0.029752 0.025700 0.068500 0.019800 0.016900 0.015900 0.004630 0.010065 0.002158 0.004358 0.004151 0.008670 0.003559 0.003572 0.007650 0.010065 1180 213 66 41 71 232 424 89 44 254838 21162 30590 9408 17104 26758 119148 24916 5752 0.000149 0.000284 0.000000 0.000000 0.000351 0.000673 0.000017 0.000000 0.001043 19 3 0 0 3 9 1 0 3 1142 207 66 41 65 214 422 89 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4296 12762 134 110 244 0.0155814 0.024966 0.0187606 0.0155814 0.024966 0.0187606 162 transversion G T G>T 0.000 0.044 255 PASS 0.02 0.01 0.01 0.01 0.01 0.026 0.03 0.016 0.02 0.017 0.069 . . MDC1:NM_014641:exon10:c.C3672A:p.T1224T . . 0.5473684 . . @ 104 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 190.0 . . . 0.025 0.019 0.016 0.025 0.019 0.016 . -0.8947 . . . . . . . . 7.841e-03 . . . 0.0095 0.0095 0.0019 0.0050 0.0019 0.0070 0.0071 0.0254 0.0080 0.0076 0.0018 0.0023 0.0023 0.0051 0.0044 0.0254 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0298 . . . 0.18 0.08 182 ENSG00000137337 MDC1 MDC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs114458930 . . . . . . . 0.013736263736263736 0.024390243902439025 0.011049723756906077 0.006993006993006993 0.013192612137203167 III.77 0.025147 ENST00000417033 II.88 I.62 . . . . . . 0.018761 . . . . . 0.0078 0.0041 0.0021 0.0040 0.0040 0.0032 0.0031 0.0067 0.0087 0.0144 0.0094 0.0042 0.0157 0.0062 0.0065 0.0075 0.0139 . . . . -0.072 -0.072000 . . . . . 1.0E-255 . . . . . . . . . -0.072 . 0.025 . . rs114458930 rs114458930 1 1538 10 1/0 0,235,246 +rs149535951 6 30673351 C G - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution synonymous exon GRCh37 30673351 30673351 Chr6(GRCh37):g.30673351C>G 3609 3609 NM_014641.2:c.3609G>C p.Val1203= p.Val1203Val 10 607593 525 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 rs149535951 yes no Frequency/1000G 2 C 0.000000 0 0.029752 0.025700 0.068500 0.019800 0.016900 0.015900 0.003665 0.007105 0.001992 0.003766 0.003201 0.007779 0.002580 0.003185 0.006366 0.007779 975 160 67 36 59 217 316 81 39 266060 22518 33634 9560 18434 27894 122462 25432 6126 0.000098 0.000266 0.000000 0.000209 0.000108 0.000502 0.000000 0.000000 0.000326 13 3 0 1 1 7 0 0 1 949 154 67 34 57 203 316 81 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8522 4353 12875 78 53 131 0.00906977 0.0120291 0.0100723 0.00906977 0.0120291 0.0100723 167 transversion G C G>C 0.000 -0.844 V Val GTG 0.468 V Val GTC 0.240 1203 255 PASS . . . . . 0.026 0.03 0.016 0.02 0.017 0.069 . . MDC1:NM_014641:exon10:c.G3609C:p.V1203V . . 0.47639486 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 233.0 . . . 0.012 0.01 0.0091 0.012 0.01 0.0091 . -1.2260 . . . . . . . . 3.083e-03 . . . 0.0055 0.0038 0.0007 0.0032 0 0.0031 0.0014 0.0081 0.0037 0.0023 0.0005 0.0012 0.0009 0.0012 0 0.0080 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0298 . . . 0.26 0.07 182 ENSG00000137337 MDC1 MDC1 . . . . . . 910 0.0140052 64976 761 0.0126863 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs149535951 . . . . . . . . . . . . 6.0715 0.013644 ENST00000417033 III.15 -5.74 . . . . . . 0.010072 . . . . . 0.0070 0.0036 0.0020 0.0037 0.0033 0.0031 0.0026 0.0054 0.0078 0.0074 0.0044 0.0025 0.0074 0.0020 0.0036 0.0027 0.0122 . . . . -1.126 -1.126000 . . . . . 1.0E-255 . . . . . . . . . -1.126 . 0.012 . . rs149535951 rs149535951 1 1538 10 1/0 0,222,243 +rs149535951 6 30673351 C G - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673351 30673351 Chr6(GRCh37):g.30673351C>G 127+2381 127+2381 NR_133647.1:n.127+2381C>G p.? p.? 1 1 2381 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs149535951 yes no Frequency/1000G 2 C 0.000000 0 0.029752 0.025700 0.068500 0.019800 0.016900 0.015900 0.003665 0.007105 0.001992 0.003766 0.003201 0.007779 0.002580 0.003185 0.006366 0.007779 975 160 67 36 59 217 316 81 39 266060 22518 33634 9560 18434 27894 122462 25432 6126 0.000098 0.000266 0.000000 0.000209 0.000108 0.000502 0.000000 0.000000 0.000326 13 3 0 1 1 7 0 0 1 949 154 67 34 57 203 316 81 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8522 4353 12875 78 53 131 0.00906977 0.0120291 0.0100723 0.00906977 0.0120291 0.0100723 167 transversion C G C>G 0.000 -0.844 255 PASS . . . . . 0.026 0.03 0.016 0.02 0.017 0.069 . . MDC1:NM_014641:exon10:c.G3609C:p.V1203V . . 0.47639486 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 233.0 . . . 0.012 0.01 0.0091 0.012 0.01 0.0091 . -1.2260 . . . . . . . . 3.083e-03 . . . 0.0055 0.0038 0.0007 0.0032 0 0.0031 0.0014 0.0081 0.0037 0.0023 0.0005 0.0012 0.0009 0.0012 0 0.0080 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0298 . . . 0.26 0.07 182 ENSG00000137337 MDC1 MDC1 . . . . . . 910 0.0140052 64976 761 0.0126863 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs149535951 . . . . . . . . . . . . 6.0715 0.013644 ENST00000417033 III.15 -5.74 . . . . . . 0.010072 . . . . . 0.0070 0.0036 0.0020 0.0037 0.0033 0.0031 0.0026 0.0054 0.0078 0.0074 0.0044 0.0025 0.0074 0.0020 0.0036 0.0027 0.0122 . . . . -1.126 -1.126000 . . . . . 1.0E-255 . . . . . . . . . -1.126 . 0.012 . . rs149535951 rs149535951 1 1538 10 1/0 0,222,243 +rs143258964 6 30673359 T G - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution missense exon GRCh37 30673359 30673359 Chr6(GRCh37):g.30673359T>G 3601 3601 NM_014641.2:c.3601A>C p.Thr1201Pro p.Thr1201Pro 10 607593 517 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 rs143258964 yes no Frequency/1000G 2 T 0.000000 0 0.029752 0.025700 0.068500 0.018800 0.016900 0.017300 0.003850 0.008114 0.002093 0.003805 0.003418 0.007847 0.002701 0.003236 0.006982 0.008114 991 168 67 36 60 216 322 81 41 257372 20704 32016 9460 17552 27528 119210 25030 5872 0.000085 0.000290 0.000000 0.000211 0.000000 0.000436 0.000000 0.000000 0.000341 11 3 0 1 0 6 0 0 1 969 162 67 34 60 204 322 81 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4353 12886 67 53 120 0.0077907 0.0120291 0.00922651 0.0077907 0.0120291 0.00922651 168 transversion A C A>C 0.000 -0.521 T Thr ACA 0.280 P Pro CCA 0.274 1201 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . 0.026 0.03 0.017 0.019 0.017 0.069 . . MDC1:NM_014641:exon10:c.A3601C:p.T1201P . . 0.47511312 . . @ 105 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.052 . . 221.0 . . . 0.012 0.0092 0.0078 0.012 0.0092 0.0078 . -2.0392 -1.996 -2.039 c . . . . . 2.641e-03 . . . 0.0051 0.0032 0.0006 0.0032 0 0.0028 0.0014 0.0057 0.0031 0.0018 0.0005 0.0012 0.0006 0.0010 0 0.0056 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.064 0.0298 . . . 0.25 0.07 182 ENSG00000137337 MDC1 MDC1 . . . 0.804 0.242 . 911 0.0140206 64976 761 0.0126863 59986 Likely_benign . 0 . 0.065 . . . . . . . . . 37 . 0.004 . . 0.449 . . . 0.013 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.165 . . 0.080 . . . . . . 1 0.042 . . . . . 0.012 . 0.299 . HET 0.19 rs143258964 . . . . . . . . . . . . 0.9246 0.013911 . III.35 -2.3 . 1.000000 . . . . 0.009227 . 0.009 . . . 0.0071 0.0037 0.0021 0.0037 0.0034 0.0031 0.0026 0.0059 0.0078 0.0105 0.0058 0.0028 0.0089 0.0031 0.0040 0.0035 0.0146 . . 0.730 . -0.392 -0.392000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.124 . 0.090 . 0.003 -0.392 -2.041 0.012 . . rs143258964 rs143258964 1 1538 10 1/0 0,224,244 +rs143258964 6 30673359 T G - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673359 30673359 Chr6(GRCh37):g.30673359T>G 127+2389 127+2389 NR_133647.1:n.127+2389T>G p.? p.? 1 1 2389 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs143258964 yes no Frequency/1000G 2 T 0.000000 0 0.029752 0.025700 0.068500 0.018800 0.016900 0.017300 0.003850 0.008114 0.002093 0.003805 0.003418 0.007847 0.002701 0.003236 0.006982 0.008114 991 168 67 36 60 216 322 81 41 257372 20704 32016 9460 17552 27528 119210 25030 5872 0.000085 0.000290 0.000000 0.000211 0.000000 0.000436 0.000000 0.000000 0.000341 11 3 0 1 0 6 0 0 1 969 162 67 34 60 204 322 81 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4353 12886 67 53 120 0.0077907 0.0120291 0.00922651 0.0077907 0.0120291 0.00922651 168 transversion T G T>G 0.000 -0.521 255 PASS . . . . . 0.026 0.03 0.017 0.019 0.017 0.069 . . MDC1:NM_014641:exon10:c.A3601C:p.T1201P . . 0.47511312 . . @ 105 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.052 . . 221.0 . . . 0.012 0.0092 0.0078 0.012 0.0092 0.0078 . -2.0392 -1.996 -2.039 c . . . . . 2.641e-03 . . . 0.0051 0.0032 0.0006 0.0032 0 0.0028 0.0014 0.0057 0.0031 0.0018 0.0005 0.0012 0.0006 0.0010 0 0.0056 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.064 0.0298 . . . 0.25 0.07 182 ENSG00000137337 MDC1 MDC1 . . . 0.804 0.242 . 911 0.0140206 64976 761 0.0126863 59986 Likely_benign . 0 . 0.065 . . . . . . . . . 37 . 0.004 . . 0.449 . . . 0.013 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.165 . . 0.080 . . . . . . 1 0.042 . . . . . 0.012 . 0.299 . HET 0.19 rs143258964 . . . . . . . . . . . . 0.9246 0.013911 . III.35 -2.3 . 1.000000 . . . . 0.009227 . 0.009 . . . 0.0071 0.0037 0.0021 0.0037 0.0034 0.0031 0.0026 0.0059 0.0078 0.0105 0.0058 0.0028 0.0089 0.0031 0.0040 0.0035 0.0146 . . 0.730 . -0.392 -0.392000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.124 . 0.090 . 0.003 -0.392 -2.041 0.012 . . rs143258964 rs143258964 1 1538 10 1/0 0,224,244 +rs201720765 6 31323072 G C - HLA-B 4932 Major histocompatibility complex, class I, B NM_005514.7 -1 1611 1089 NP_005505.2 P01889 substitution intron GRCh37 31323072 31323072 Chr6(GRCh37):g.31323072G>C 895+22 895+22 NM_005514.7:c.895+22C>G p.? p.? 4 4 142830 22 5' 82.9658 8.05386 0.983967 6.24325 82.9658 8.05386 0.983967 6.23314 0 rs201720765 yes no Frequency 1 G 0.000000 0 0.000958 0.003157 0.000573 0.000000 0.001253 0.000137 0.000693 0.002166 0.000689 0.003157 240 68 18 0 21 4 80 45 4 250544 21540 31416 9686 16758 29138 115430 20774 5802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240 68 18 0 21 4 80 45 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.893 187 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 189.0 . . . . . . . . . . 0.0976 . . . . . . . . 2.210e-04 . . . 0 0.0002 0 0.0007 0.0005 0.0001 0 0.0003 0 0.0002 0 0.0005 0.0006 7.48e-05 0 0.0003 . . . . . . intronic intronic ncRNA_exonic . . . @ . . . 0.18 0.22 182 ENSG00000234745 HLA-B MIR6891 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201720765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0.0003 0.0006 0.0001 0.0002 0.0001 0.0105 0.0089 0.0149 0 0.0200 0.0175 0.0058 0.0045 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs201720765 rs201720765 1 1538 10 1/0 0,201,255 +rs201720765 6 31323072 G C - MIR6891 50243 MicroRNA 6891 NR_106951.1 -1 93 0 substitution exon GRCh37 31323072 31323072 Chr6(GRCh37):g.31323072G>C 22 22 NR_106951.1:n.22C>G 1 rs201720765 yes no Frequency 1 G 0.000000 0 0.000958 0.003157 0.000573 0.000000 0.001253 0.000137 0.000693 0.002166 0.000689 0.003157 240 68 18 0 21 4 80 45 4 250544 21540 31416 9686 16758 29138 115430 20774 5802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240 68 18 0 21 4 80 45 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.893 187 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 189.0 . . . . . . . . . . 0.0976 . . . . . . . . 2.210e-04 . . . 0 0.0002 0 0.0007 0.0005 0.0001 0 0.0003 0 0.0002 0 0.0005 0.0006 7.48e-05 0 0.0003 . . . . . . intronic intronic ncRNA_exonic . . . @ . . . 0.18 0.22 182 ENSG00000234745 HLA-B MIR6891 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201720765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0.0003 0.0006 0.0001 0.0002 0.0001 0.0105 0.0089 0.0149 0 0.0200 0.0175 0.0058 0.0045 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs201720765 rs201720765 1 1538 10 1/0 0,201,255 +rs41562914 6 31324602 T G - HLA-B 4932 Major histocompatibility complex, class I, B NM_005514.7 -1 1611 1089 NP_005505.2 P01889 substitution missense exon GRCh37 31324602 31324602 Chr6(GRCh37):g.31324602T>G 206 206 NM_005514.7:c.206A>C p.Glu69Ala p.Glu69Ala 2 142830 133 3' 82.6569 7.59013 0.945445 5.33485 82.6569 7.59013 0.945445 5.33485 0 MHC class I alpha chain, alpha1 alpha2 domains MHC classes I/II-like antigen recognition protein rs41562914 yes no Frequency/1000G 2 0.000000 0 0.268371 0.322200 0.370100 0.167700 0.200800 0.266600 0.000015 0.000000 0.000051 0.000000 0.000000 0.000079 0.000000 0.000000 0.000000 0.000079 2 0 1 0 0 1 0 0 0 132446 8272 19648 6308 7364 12622 64662 10562 3008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 137 Exomes COSM3253072|COSM3253072|COSM3253072|COSM3253072|COSM3253072 Upper aerodigestive tract|Thyroid|Soft tissue|Large intestine|Haematopoietic and lymphoid tissue 0.007326|0.001339|0.008850|0.000892|0.000262 1365|747|678|2241|3822 transversion A C A>C 0.000 -4.234 E Glu GAG 0.583 A Ala GCG 0.107 69 12 3 Northern white-cheeked gibbon -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 255.29 0.00 Tolerated 0.61 II.84 251 PASS . . . . . 0.32 0.27 0.27 0.17 0.2 0.37 . . HLA-B:NM_005514:exon2:c.A206C:p.E69A . . 0.30921054 . . @ 47 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.119 . @ . . . . . 1 0.023 . . 152.0 . . . . . . . . . . -1.9180 -2.068 -1.918 c . . . . . . . . . 0 2.242e-05 0 0 0 4.448e-05 0 0 0 7.454e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.018 0.2684 . . . 0.23 0.25 182 ENSG00000234745 HLA-B HLA-B . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.019 . . . . . . . . . 37 . 0.000 . . 0.321 . . . 0.035 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.050 . . 0 0 0 0 1 0 . 0.212 . . 0.446 . . . . . . 0 0.506 . . . . . 0.349 . 0.528 . HET 0.08 rs41562914 . . . . . . . . . . . . VIII.44 . . 3.II -6.41 . 0.430000 . . . . . . 0.026 . . . 0 1.51e-05 5.09e-05 0 0 0 0 0 7.923e-05 . . . . . . . . . . 0.969 . -4.011 -4.011000 . . 0.430000 . . 1.0E-251 0.000 0.063 . 0.062 0.068 . 0.002 . 0.077 -4.011 -1.375 . rs41562914 rs41562914 rs41562914 rs41562914 1 1538 10 1/0 0,227,255 +rs41562914 6 31324602 T G - MIR6891 50243 MicroRNA 6891 NR_106951.1 -1 93 0 substitution upstream GRCh37 31324602 31324602 Chr6(GRCh37):g.31324602T>G -1509 -1509 NR_106951.1:n.-1509A>C p.? p.? 1 rs41562914 yes no Frequency/1000G 2 0.000000 0 0.268371 0.322200 0.370100 0.167700 0.200800 0.266600 0.000015 0.000000 0.000051 0.000000 0.000000 0.000079 0.000000 0.000000 0.000000 0.000079 2 0 1 0 0 1 0 0 0 132446 8272 19648 6308 7364 12622 64662 10562 3008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 137 Exomes COSM3253072|COSM3253072|COSM3253072|COSM3253072|COSM3253072 Upper aerodigestive tract|Thyroid|Soft tissue|Large intestine|Haematopoietic and lymphoid tissue 0.007326|0.001339|0.008850|0.000892|0.000262 1365|747|678|2241|3822 transversion A C A>C 0.000 -4.234 251 PASS . . . . . 0.32 0.27 0.27 0.17 0.2 0.37 . . HLA-B:NM_005514:exon2:c.A206C:p.E69A . . 0.30921054 . . @ 47 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.119 . @ . . . . . 1 0.023 . . 152.0 . . . . . . . . . . -1.9180 -2.068 -1.918 c . . . . . . . . . 0 2.242e-05 0 0 0 4.448e-05 0 0 0 7.454e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.018 0.2684 . . . 0.23 0.25 182 ENSG00000234745 HLA-B HLA-B . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.019 . . . . . . . . . 37 . 0.000 . . 0.321 . . . 0.035 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.050 . . 0 0 0 0 1 0 . 0.212 . . 0.446 . . . . . . 0 0.506 . . . . . 0.349 . 0.528 . HET 0.08 rs41562914 . . . . . . . . . . . . VIII.44 . . 3.II -6.41 . 0.430000 . . . . . . 0.026 . . . 0 1.51e-05 5.09e-05 0 0 0 0 0 7.923e-05 . . . . . . . . . . 0.969 . -4.011 -4.011000 . . 0.430000 . . 1.0E-251 0.000 0.063 . 0.062 0.068 . 0.002 . 0.077 -4.011 -1.375 . rs41562914 rs41562914 rs41562914 rs41562914 1 1538 10 1/0 0,227,255 +. 6 31380161 G GCTGCT - MICA 7090 MHC class I polypeptide-related sequence A NM_001177519.2 1 1398 999 NP_001170990.1 insertion frameshift exon GRCh37 31380161 31380162 Chr6(GRCh37):g.31380161_31380162insCTGCT 952 953 NM_001177519.2:c.952_953insCTGCT p.Gly318Alafs*70 p.Gly318Alafs*70 5 600169 60 3' 94.7099 7.00521 0.934716 7.86242 94.7099 7.00521 0.934716 7.04829 0 rs41293539 yes no Frequency/1000G 2 benign 0.233826 CT 1171 CTGCT 255 Pass . . . . . . . . . . . . . . . . 0.5714286 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 42 . . . . . . . . . . . . . . . . . . . 1.433e-03 . . . 0.0005 0.0006 0.0010 0 0.0012 0.0006 0 0.0005 0.0006 0.0007 0.0010 0 0.0005 0.0008 0 0.0005 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic\x3bsplicing . . . . . . . . . . ENSG00000204520 MICA MICA\x3bMICA . . NM_000247:exon6:c.949-1->CTGCT . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1.I 0,12,24 +rs392610 6 31952180 C A - C4A 1323 Complement component 4A (Rodgers blood group) NM_007293.2 1 5426 5235 NP_009224.2 P0C0L4 substitution missense exon GRCh37 31952180 31952180 Chr6(GRCh37):g.31952180C>A 1040 1040 NM_007293.2:c.1040C>A p.Ser347Tyr p.Ser347Tyr 9 120810 -6 5' 85.557 8.56441 0.862816 6.56628 85.557 8.56441 0.882033 6.48572 0.00742414 rs392610 yes no Frequency 1 C 0.000000 0 COSM3684226 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 1.000 2.627 S Ser TCT 0.185 Y Tyr TAT 0.438 347 13 6 Opossum -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 353.86 0.00 Tolerated 0.1 II.64 good 6.888E-1 0.6751 255 PASS . . . . . . . . . . . . . . . . 0.52380955 . . @ 55 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.764 . @ . . . . . 1 0.653 . . 105.0 . . . . . . . . . . 0.6295 0.546 0.630 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.511 @ . . . 0.47 0.46 182 ENSG00000244731 . . . . . 0.738 0.231 . . . . . . . Uncertain_significance . 0 . 0.231 . . . . D 0.810 0.128 . . 37 . 0.626 . . 0.612 . . . 0.848 0.291 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.643 . . 0 0 0 0 0 0 . 0.689 . . 0.639 . . . . . . 3 0.531 . . . . . 0.556 . 0.596 . HET 0.02 . 0.065 0.087 . . . . . . . . . . XII.05 . . IV.34 IV.34 . 0.040000 . . . . . . 0.630 . . IV.34 . . . . . . . . . . . . . . . . . . . 0.246 . 2.417 2.417000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.653 0.998 . 0.556 . 0.362 2.417 0.871 0.065 rs392610 rs392610 rs392610 rs150969927 1 1538 10 1/0 0,255,255 +rs149464899 6 31963026 T C - C4A 1323 Complement component 4A (Rodgers blood group) NM_007293.2 1 5426 5235 NP_009224.2 P0C0L4 substitution intron GRCh37 31963026 31963026 Chr6(GRCh37):g.31963026T>C 2944+55 2944+55 NM_007293.2:c.2944+55T>C p.? p.? 23 23 120810 55 5' 80.2281 6.70762 0.792526 3.71207 80.2281 6.70762 0.792526 3.75227 0 rs149464899 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.5714286 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.1160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.37 182 ENSG00000244731 C4B_2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3115529 rs3115529 rs3115529 rs149464899 1 1538 10 1/0 0,251,255 +. 6 31970003 G A - C4A 1323 Complement component 4A (Rodgers blood group) NM_007293.2 1 5426 5235 NP_009224.2 P0C0L4 substitution synonymous exon GRCh37 31970003 31970003 Chr6(GRCh37):g.31970003G>A 5064 5064 NM_007293.2:c.5064G>A p.Leu1688= p.Leu1688Leu 40 120810 -30 5' 74.2807 8.34018 0.748954 4.28418 74.2807 8.34018 0.748954 3.75865 0 New Acceptor Site 31970005 III.37 0.015948 62.852 Netrin module, non-TIMP type Netrin domain transition G A G>A 0.984 0.609 L Leu CTG 0.404 L Leu CTA 0.070 1688 255 PASS . . . . . . . . . . . . . . . . 0.4852071 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . 0.9587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.33 182 ENSG00000244731 C4B_2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs4600 rs4600 rs4600 rs4600 1 1538 10 1/0 0,234,250 +rs139889867 6 31984918 C A - C4B 1324 Complement component 4B (Chido blood group) NM_001002029.3 1 5427 5235 NP_001002029.3 P0C0L5 substitution missense exon GRCh37 31984918 31984918 Chr6(GRCh37):g.31984918C>A 1040 1040 NM_001002029.3:c.1040C>A p.Ser347Tyr p.Ser347Tyr 9 120820 -6 5' 85.557 8.56441 0.862816 6.56628 85.557 8.56441 0.882033 6.48572 0.00742414 rs139889867 no no 0 C 0.000000 0 COSM3684245|COSM3684245 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transversion C A C>A 1.000 1.820 S Ser TCT 0.185 Y Tyr TAT 0.438 347 13 6 Opossum -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 353.86 0.00 Tolerated 0.1 II.64 good 6.885E-1 0.6749 255 PASS . . . . . . . . . . . . . . . . 0.44144145 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.757 . @ . . . . . 1 0.515 . . 111.0 . . . . . . . . . . 0.4684 0.357 0.468 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.327 @ . . . 0.46 0.41 182 ENSG00000224389 . . . . . 0.008 0.116 . . . . . . . Uncertain_significance . 0 . 0.231 . . . . T 0.274 0.011 . . 37 . 0.427 . . 0.138 . . . 0.848 0.261 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.623 . . 0 0 0 0 0 0 . 0.899 . . 0.728 . . . . . . 2 0.353 . . . . . 0.353 . 0.475 . HET 0.08 . 0.065 0.087 . . . . . . . . . . 9.0487 . . 2.IX 2.IX . 0.090000 . . . . . . 0.414 . . 2.IX . . . . . . . . . . . . . . . . . . . 0.246 . 1.435 1.435000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.536 0.997 . 0.543 . 0.289 1.435 0.871 0.065 rs392610 rs392610 rs392610 rs139889867 1 1538 10 1/0 0,255,255 +rs139889867 (chr6:31984918 C/A) 6 31984918 C A Transcript NM_001242823.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) C4B_2 +rs139889867 6 31984918 C A - CYP21A1P 2599 Cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene XR_247415.1 1 2500 0 substitution upstream GRCh37 31984918 31984918 Chr6(GRCh37):g.31984918C>A -18373 -18373 XR_247415.1:n.-18373C>A p.? p.? 1 -19079 5' 66.8275 3.75443 0.138572 1.53235 66.8275 3.75443 0.138572 1.53235 0 rs139889867 no no 0 C 0.000000 0 COSM3684245|COSM3684245 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transversion C A C>A 1.000 1.820 255 PASS . . . . . . . . . . . . . . . . 0.44144145 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.757 . @ . . . . . 1 0.515 . . 111.0 . . . . . . . . . . 0.4684 0.357 0.468 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.327 @ . . . 0.46 0.41 182 ENSG00000224389 . . . . . 0.008 0.116 . . . . . . . Uncertain_significance . 0 . 0.231 . . . . T 0.274 0.011 . . 37 . 0.427 . . 0.138 . . . 0.848 0.261 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.623 . . 0 0 0 0 0 0 . 0.899 . . 0.728 . . . . . . 2 0.353 . . . . . 0.353 . 0.475 . HET 0.08 . 0.065 0.087 . . . . . . . . . . 9.0487 . . 2.IX 2.IX . 0.090000 . . . . . . 0.414 . . 2.IX . . . . . . . . . . . . . . . . . . . 0.246 . 1.435 1.435000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.536 0.997 . 0.543 . 0.289 1.435 0.871 0.065 rs392610 rs392610 rs392610 rs139889867 1 1538 10 1/0 0,255,255 +rs3115529 6 31995764 T C - C4B 1324 Complement component 4B (Chido blood group) NM_001002029.3 1 5427 5235 NP_001002029.3 P0C0L5 substitution intron GRCh37 31995764 31995764 Chr6(GRCh37):g.31995764T>C 2944+55 2944+55 NM_001002029.3:c.2944+55T>C p.? p.? 23 23 120820 55 5' 80.2281 6.70762 0.792526 3.71207 80.2281 6.70762 0.792526 3.75227 0 rs3115529 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.496063 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . 0.2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.47 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3115529 rs3115529 rs3115529 rs137910419 1 1538 10 1/0 0,249,255 +rs3115529 6 31995764 T C - C4B_2 42398 Complement component 4B (Chido blood group), copy 2 NM_001242823.2 1 5427 5235 NP_001229752.1 P0C0L5 substitution intron GRCh37 31995764 31995764 Chr6(GRCh37):g.31995764T>C 2944+55 2944+55 NM_001242823.2:c.2944+55T>C p.? p.? 23 23 55 5' 80.2281 6.70762 0.792526 3.71207 80.2281 6.70762 0.792526 3.75227 0 rs3115529 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.496063 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . 0.2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.47 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3115529 rs3115529 rs3115529 rs137910419 1 1538 10 1/0 0,249,255 +rs3115529 6 31995764 T C - CYP21A1P 2599 Cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene XR_247415.1 1 2500 0 substitution upstream GRCh37 31995764 31995764 Chr6(GRCh37):g.31995764T>C -7527 -7527 XR_247415.1:n.-7527T>C p.? p.? 1 -8233 5' 66.8275 3.75443 0.138572 1.53235 66.8275 3.75443 0.138572 1.53235 0 rs3115529 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.496063 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . 0.2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.47 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3115529 rs3115529 rs3115529 rs137910419 1 1538 10 1/0 0,249,255 +. 6 32002740 G A - C4B 1324 Complement component 4B (Chido blood group) NM_001002029.3 1 5427 5235 NP_001002029.3 P0C0L5 substitution synonymous exon GRCh37 32002740 32002740 Chr6(GRCh37):g.32002740G>A 5064 5064 NM_001002029.3:c.5064G>A p.Leu1688= p.Leu1688Leu 40 120820 -30 5' 74.2807 8.34018 0.748954 4.28418 74.2807 8.34018 0.748954 3.75865 0 New Acceptor Site 32002742 III.37 0.015948 62.852 Netrin module, non-TIMP type Netrin domain COSM4003958 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 1.000 1.013 L Leu CTG 0.404 L Leu CTA 0.070 1688 255 PASS . . . . . . . . . . . . . . . . 0.5151515 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . I.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.39 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs4600 rs4600 rs4600 rs4600 1 1538 10 1/0 0,245,255 +. (chr6:32002740 G/A) 6 32002740 G A Transcript NM_001242823.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) C4B_2 +. 6 32002740 G A - CYP21A1P 2599 Cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene XR_247415.1 1 2500 0 substitution upstream GRCh37 32002740 32002740 Chr6(GRCh37):g.32002740G>A -551 -551 XR_247415.1:n.-551G>A p.? p.? 1 -1257 5' 66.8275 3.75443 0.138572 1.53235 66.8275 3.75443 0.138572 1.53235 0 New Acceptor Site 32002742 III.37 0.015948 62.852 COSM4003958 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 1.000 1.013 255 PASS . . . . . . . . . . . . . . . . 0.5151515 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . I.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.39 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs4600 rs4600 rs4600 rs4600 1 1538 10 1/0 0,245,255 +rs542628764 6 32012979 G A - TNXB 11976 Tenascin XB ENST00000375244.7 -1 13132 12735 ENSP00000364393 substitution synonymous exon GRCh37 32012979 32012979 Chr6(GRCh37):g.32012979G>A 10731 10731 ENST00000375244.7:c.10731C>T p.Ser3577= p.Ser3577Ser 32 600985 125 3' 79.8979 7.87989 0.123574 6.37944 79.8979 7.87989 0.123574 6.37944 0 Fibronectin, type III rs542628764 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.005100 0.000000 0.000000 0.000000 0.000395 0.000000 0.000000 0.000000 0.000000 0.003349 0.000033 0.000039 0.000000 0.003349 107 0 0 0 0 102 4 1 0 270570 22736 34278 9992 18730 30456 122320 25698 6360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 107 0 0 0 0 102 4 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -6.413 S Ser AGC 0.243 S Ser AGT 0.149 3577 244 PASS . . . . . . 0.001 . . . 0.0051 . . . . . 0.2848837 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . 0.1774 . . . . . . . . 6.107e-04 . . . 0 0.0009 0 0.0002 0 2.797e-05 0 0.0043 0 0.0007 0 0.0001 0 2.029e-05 0 0.0043 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . . . . ENSG00000168477 TNXB TNXB . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 4.503e-05 2.794e-05 0 0.0033 0 3.236e-05 0 0 0 0 6.687e-05 0 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +. 6 32039866 T G - TNXB 11976 Tenascin XB ENST00000375244.7 -1 13132 12735 ENSP00000364393 substitution missense exon GRCh37 32039866 32039866 Chr6(GRCh37):g.32039866T>G 4891 4891 ENST00000375244.7:c.4891A>C p.Thr1631Pro p.Thr1631Pro 13 600985 -100 5' 81.348 7.62374 0.777591 9.12592 81.348 7.62374 0.777591 9.12592 0 Fibronectin, type III transversion A C A>C 0.992 2.869 T Thr ACT 0.243 P Pro CCT 0.283 1631 12 2 Dog -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . TNXB:uc003nzl.2:exon13:c.A4891C:p.T1631P TNXB:NM_019105:exon13:c.A4891C:p.T1631P . . 0.53913045 . . @ 124 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.762 . @ . . . . . 1 0.811 . . 230.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Cct|T1631P|TNXB|mRNA|CODING|NM_019105.6|NM_019105.6.ex.13) . . . . . . . 0.7397 0.650 0.740 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.615 . . exonic exonic exonic . . 0.740 @ . . . . . . ENSG00000168477 TNXB TNXB . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.329 . . . . T 0.344 0.014 . . 37 . 0.741 . . 0.756 . . . 0.859 0.289 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.685 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.450 . . . . . 0.564 . 0.732 . HET 0.01 . . . . . . . . . . . . . 12.728 . . V.28 V.28 . 0.040000 P22105-3 . . . . . 0.447 . . V.28 . . . . . . . . . . . . . . . . . . . 0.450 . 2.000 2.000000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.331 0.807 . 0.343 . 0.635 2.000 0.991 . . . . . 1 1538 10 1/0 0,225,237 +rs763075781 6 32041456 C T - TNXB 11976 Tenascin XB ENST00000375244.7 -1 13132 12735 ENSP00000364393 substitution missense exon GRCh37 32041456 32041456 Chr6(GRCh37):g.32041456C>T 4649 4649 ENST00000375244.7:c.4649G>A p.Arg1550His p.Arg1550His 12 600985 -33 5' 86.6769 9.89081 0.991907 11.895 86.6769 9.89081 0.991907 XI.84 0 Fibronectin, type III rs763075781 yes no Frequency 1 C 0.000000 0 0.000037 0.000000 0.000000 0.000000 0.000000 0.000066 0.000065 0.000000 0.000000 0.000066 10 0 0 0 0 2 8 0 0 271358 22798 34270 9994 18748 30508 122924 25750 6366 0.000007 0.000000 0.000000 0.000000 0.000000 0.000066 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 8 0 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.367 R Arg CGC 0.190 H His CAC 0.587 1550 12 2 Dog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . TNXB:uc003nzl.2:exon12:c.G4649A:p.R1550H TNXB:NM_019105:exon12:c.G4649A:p.R1550H . . 0.4391892 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.434 . @ . . . . . 1 0.438 . . 148.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1550H|TNXB|mRNA|CODING|NM_019105.6|NM_019105.6.ex.12) . . . . . . . -0.5627 -0.677 -0.563 c . . . . . 4.084e-05 . . . 0 3.682e-05 0 0 0 8.013e-05 0 0 0 1.016e-05 0 0 0 1.967e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.542 . . exonic exonic exonic . . 0.231 @ . . . . . . ENSG00000168477 TNXB TNXB . . . 0.806 0.242 . . . . . . . Uncertain_significance . 0 . 0.234 . . . . T 0.338 0.014 . . 37 . 0.425 . . 0.511 . . . 0.558 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.217 . . 0.256 . . . . . . 0 0.654 . . . . . 0.310 . 0.143 . HET 0 . . . . . . . . . . . . . VIII.67 . . V.46 I.68 . 0.020000 P22105-3 . . . . . 0.070 . . . 0 3.327e-05 0 0 0 0 5.557e-05 0 6.556e-05 0 6.478e-05 0 0 0 0 0.0001 0 . . 0.450 . 0.009 0.009000 . . 0.020000 . . 1.0E-255 0.002 0.151 . 0.074 0.137 . 0.143 . 0.403 0.009 0.871 . . . . . 1 1538 10 1/0 0,238,255 +rs3180799 (chr6:32546802 C/A) 6 32546802 C A Transcript NM_001243965.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB1 +rs3180799 6 32546802 C A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution 3'UTR GRCh37 32546802 32546802 Chr6(GRCh37):g.32546802C>A *66 *66 NM_022555.3:c.*66G>T p.? p.? 6 612735 80 3' 95.3127 13.7537 0.989568 XII.38 95.3127 13.7537 0.989568 XII.89 0 rs796306073 no no 0 0.000000 0 transversion G T G>T 0.000 -0.037 215 PASS . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.G212T:p.C71F . . . 0.2 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.0366 . . . . . . . . 1.082e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . 0.38 0.73 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*66G>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3180799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs3180799 rs3180799 rs3180799 rs3180799 1 1538 10 1/0 0,242,255 +rs3180799 6 32546802 C A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution 3'UTR GRCh37 32546802 32546802 Chr6(GRCh37):g.32546802C>A *66 *66 NM_021983.4:c.*66G>T p.? p.? 6 80 3' 95.3127 13.7863 0.98963 13.1561 95.3127 13.7863 0.98963 13.0324 0 rs3180799 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.000 -0.037 215 PASS . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.G212T:p.C71F . . . 0.2 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.0366 . . . . . . . . 1.082e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . 0.38 0.73 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*66G>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3180799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs3180799 rs3180799 rs3180799 rs3180799 1 1538 10 1/0 0,242,255 +. 6 32546851 ATG A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 deletion 3'UTR GRCh37 32546852 32546853 Chr6(GRCh37):g.32546852_32546853del *15 *16 NM_001243965.1:c.*15_*16del p.? p.? 6 142857 29 3' 95.3127 13.7537 0.989568 XII.91 95.3127 13.7537 0.989568 12.0145 0 rs760049502 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104460 5960 10680 3658 5338 13406 50416 12602 2400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes CA 255 Pass . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.161_162del:p.T54fs . . . 0.2747253 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . UTR3 exonic UTR3 . . . . . . . . . . ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*16_*15delCA . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372075270 rs372075270 1 1538 10 1.I 0,10,56 +. 6 32546851 ATG A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 deletion 3'UTR GRCh37 32546852 32546853 Chr6(GRCh37):g.32546852_32546853del *15 *16 NM_022555.3:c.*15_*16del p.? p.? 6 612735 29 3' 95.3127 13.7537 0.989568 XII.38 95.3127 13.7537 0.989568 XI.64 0 rs760049502 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104460 5960 10680 3658 5338 13406 50416 12602 2400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes CA 255 Pass . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.161_162del:p.T54fs . . . 0.2747253 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . UTR3 exonic UTR3 . . . . . . . . . . ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*16_*15delCA . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372075270 rs372075270 1 1538 10 1.I 0,10,56 +. 6 32546851 ATG A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 deletion 3'UTR GRCh37 32546852 32546853 Chr6(GRCh37):g.32546852_32546853del *15 *16 NM_021983.4:c.*15_*16del p.? p.? 6 29 3' 95.3127 13.7863 0.98963 13.1561 95.3127 13.7863 0.98963 12.317 0 rs760049502 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104460 5960 10680 3658 5338 13406 50416 12602 2400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes CA 255 Pass . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.161_162del:p.T54fs . . . 0.2747253 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . UTR3 exonic UTR3 . . . . . . . . . . ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*16_*15delCA . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372075270 rs372075270 1 1538 10 1.I 0,10,56 +rs201099263 6 32546855 G T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 3'UTR GRCh37 32546855 32546855 Chr6(GRCh37):g.32546855G>T *13 *13 NM_001243965.1:c.*13C>A p.? p.? 6 142857 27 3' 95.3127 13.7537 0.989568 XII.91 95.3127 13.7537 0.989568 XII.24 0 rs201099263 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.924 255 PASS . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.C159A:p.T53T . . . 0.27173913 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . . . . . . . -0.3475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . 0.41 0.69 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*13C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201099263 rs201099263 1 1538 10 1/0 0,255,255 +rs201099263 (chr6:32546855 G/T) 6 32546855 G T Transcript NM_022555.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB3 +rs201099263 6 32546855 G T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution 3'UTR GRCh37 32546855 32546855 Chr6(GRCh37):g.32546855G>T *13 *13 NM_021983.4:c.*13C>A p.? p.? 6 27 3' 95.3127 13.7863 0.98963 13.1561 95.3127 13.7863 0.98963 13.1794 0 rs201099263 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.924 255 PASS . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.C159A:p.T53T . . . 0.27173913 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . . . . . . . -0.3475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . 0.41 0.69 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*13C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201099263 rs201099263 1 1538 10 1/0 0,255,255 +rs9269754 6 32548167 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548167 32548167 Chr6(GRCh37):g.32548167A>G 764-120 764-120 NM_001243965.1:c.764-120T>C p.? p.? 5 4 142857 -120 3' 91.7061 X.42 0.977372 9.40066 91.7061 X.42 0.977372 9.40066 0 Cryptic Donor Strongly Activated 32548165 0.873523 0.019557 67.8061 3.12146 0.041332 71.9341 rs9269754 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.812 250 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.3523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.23 0.39 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.185 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.18 rs34525481 rs9269754 rs9269754 rs9269754 1 1538 10 1/0 0,255,255 +rs9269754 6 32548167 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548167 32548167 Chr6(GRCh37):g.32548167A>G 764-120 764-120 NM_022555.3:c.764-120T>C p.? p.? 5 4 612735 -120 3' 91.7061 X.42 0.977372 9.48389 91.7061 X.42 0.977372 9.48389 0 Cryptic Donor Strongly Activated 32548165 0.873523 0.019557 67.8061 3.12146 0.041332 71.9341 rs9269754 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.812 250 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.3523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.23 0.39 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.185 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.18 rs34525481 rs9269754 rs9269754 rs9269754 1 1538 10 1/0 0,255,255 +rs9269754 6 32548167 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548167 32548167 Chr6(GRCh37):g.32548167A>G 764-120 764-120 NM_021983.4:c.764-120T>C p.? p.? 5 4 -120 3' 91.7061 X.42 0.977372 9.48389 91.7061 X.42 0.977372 9.48389 0 Cryptic Donor Strongly Activated 32548165 0.873523 0.019557 67.8061 3.12146 0.041332 71.9341 rs9269754 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.812 250 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.3523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.23 0.39 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.185 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.18 rs34525481 rs9269754 rs9269754 rs9269754 1 1538 10 1/0 0,255,255 +rs9269755 6 32548178 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548178 32548178 Chr6(GRCh37):g.32548178A>G 764-131 764-131 NM_001243965.1:c.764-131T>C p.? p.? 5 4 142857 -131 3' 91.7061 X.42 0.977372 9.40066 91.7061 X.42 0.977372 9.40066 0 rs9269755 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -0.279 255 PASS 0.73 0.73 0.73 0.75 0.7 . . . . . . . . . . . 0.5 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.0404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 44130 0.679174 64976 40783 0.679875 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.380 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs35432291 rs35432291 rs9269755 rs9269755 1 1538 10 1/0 0,255,255 +rs9269755 6 32548178 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548178 32548178 Chr6(GRCh37):g.32548178A>G 764-131 764-131 NM_022555.3:c.764-131T>C p.? p.? 5 4 612735 -131 3' 91.7061 X.42 0.977372 9.48389 91.7061 X.42 0.977372 9.48389 0 rs9269755 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -0.279 255 PASS 0.73 0.73 0.73 0.75 0.7 . . . . . . . . . . . 0.5 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.0404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 44130 0.679174 64976 40783 0.679875 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.380 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs35432291 rs35432291 rs9269755 rs9269755 1 1538 10 1/0 0,255,255 +rs9269755 6 32548178 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548178 32548178 Chr6(GRCh37):g.32548178A>G 764-131 764-131 NM_021983.4:c.764-131T>C p.? p.? 5 4 -131 3' 91.7061 X.42 0.977372 9.48389 91.7061 X.42 0.977372 9.48389 0 rs9269755 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -0.279 255 PASS 0.73 0.73 0.73 0.75 0.7 . . . . . . . . . . . 0.5 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.0404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 44130 0.679174 64976 40783 0.679875 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.380 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs35432291 rs35432291 rs9269755 rs9269755 1 1538 10 1/0 0,255,255 +rs3830122 6 32548686 C A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548686 32548686 Chr6(GRCh37):g.32548686C>A 653-53 653-53 NM_001243965.1:c.653-53G>T p.? p.? 4 3 142857 -53 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.30773 0 Cryptic Acceptor Strongly Activated 32548678 2.3e-05 0.73708 0.000218 68.8288 rs3830122 yes no Frequency/1000G 2 A 0.000000 0 transversion G T G>T 0.000 -1.651 216 PASS . . . . . . . . . . . . . . . . 0.2037037 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.4020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.41 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.391 0.449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.39 rs3830122 rs3830122 rs3830122 rs3830122 1 1538 10 1/0 0,255,255 +rs3830122 6 32548686 C A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548686 32548686 Chr6(GRCh37):g.32548686C>A 653-53 653-53 NM_022555.3:c.653-53G>T p.? p.? 4 3 612735 -53 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.30773 0 Cryptic Acceptor Strongly Activated 32548678 2.3e-05 0.73708 0.000218 68.8288 rs3830122 yes no Frequency/1000G 2 A 0.000000 0 transversion G T G>T 0.000 -1.651 216 PASS . . . . . . . . . . . . . . . . 0.2037037 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.4020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.41 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.391 0.449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.39 rs3830122 rs3830122 rs3830122 rs3830122 1 1538 10 1/0 0,255,255 +rs3830122 6 32548686 C A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548686 32548686 Chr6(GRCh37):g.32548686C>A 653-53 653-53 NM_021983.4:c.653-53G>T p.? p.? 4 3 -53 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.12 0 Cryptic Acceptor Strongly Activated 32548678 2.3e-05 0.73708 0.000218 68.8288 rs3830122 yes no Frequency/1000G 2 A 0.000000 0 transversion G T G>T 0.000 -1.651 216 PASS . . . . . . . . . . . . . . . . 0.2037037 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.4020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.41 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.391 0.449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.39 rs3830122 rs3830122 rs3830122 rs3830122 1 1538 10 1/0 0,255,255 +rs9269766 6 32548703 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548703 32548703 Chr6(GRCh37):g.32548703T>C 653-70 653-70 NM_001243965.1:c.653-70A>G p.? p.? 4 3 142857 -70 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.07577 0 rs9269766 yes no Frequency/1000G 2 C 0.000000 0 0.850040 0.873700 0.743400 0.837300 0.877700 0.933700 transition A G A>G 0.000 -1.489 255 PASS . . . . . 0.87 0.85 0.93 0.84 0.88 0.74 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1500 . . . 0.23 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.663 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.66 rs9269766 rs9269766 rs9269766 rs9269766 1 1538 10 1/0 0,255,255 +rs9269766 6 32548703 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548703 32548703 Chr6(GRCh37):g.32548703T>C 653-70 653-70 NM_022555.3:c.653-70A>G p.? p.? 4 3 612735 -70 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.07577 0 rs9269766 yes no Frequency/1000G 2 C 0.000000 0 0.850040 0.873700 0.743400 0.837300 0.877700 0.933700 transition A G A>G 0.000 -1.489 255 PASS . . . . . 0.87 0.85 0.93 0.84 0.88 0.74 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1500 . . . 0.23 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.663 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.66 rs9269766 rs9269766 rs9269766 rs9269766 1 1538 10 1/0 0,255,255 +rs9269766 6 32548703 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548703 32548703 Chr6(GRCh37):g.32548703T>C 653-70 653-70 NM_021983.4:c.653-70A>G p.? p.? 4 3 -70 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 10.0093 0 rs9269766 yes no Frequency/1000G 2 C 0.000000 0 0.850040 0.873700 0.743400 0.837300 0.877700 0.933700 transition A G A>G 0.000 -1.489 255 PASS . . . . . 0.87 0.85 0.93 0.84 0.88 0.74 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1500 . . . 0.23 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.663 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.66 rs9269766 rs9269766 rs9269766 rs9269766 1 1538 10 1/0 0,255,255 +rs9269767 6 32548722 C A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548722 32548722 Chr6(GRCh37):g.32548722C>A 653-89 653-89 NM_001243965.1:c.653-89G>T p.? p.? 4 3 142857 -89 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 Cryptic Acceptor Weakly Activated 32548707 6.75002 0.055637 69.2987 7.06215 0.183023 69.2987 rs9269767 yes no Frequency/1000G 2 C 0.000000 0 transversion G T G>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5660377 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.0555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.17 0.35 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.630 0.587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9269767 rs9269767 rs9269767 rs9269767 1 1538 10 1/0 0,255,255 +rs9269767 6 32548722 C A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548722 32548722 Chr6(GRCh37):g.32548722C>A 653-89 653-89 NM_022555.3:c.653-89G>T p.? p.? 4 3 612735 -89 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 Cryptic Acceptor Weakly Activated 32548707 6.75002 0.055637 69.2987 7.06215 0.183023 69.2987 rs9269767 yes no Frequency/1000G 2 C 0.000000 0 transversion G T G>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5660377 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.0555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.17 0.35 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.630 0.587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9269767 rs9269767 rs9269767 rs9269767 1 1538 10 1/0 0,255,255 +rs9269767 6 32548722 C A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548722 32548722 Chr6(GRCh37):g.32548722C>A 653-89 653-89 NM_021983.4:c.653-89G>T p.? p.? 4 3 -89 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 Cryptic Acceptor Weakly Activated 32548707 6.75002 0.055637 69.2987 7.06215 0.183023 69.2987 rs9269767 yes no Frequency/1000G 2 C 0.000000 0 transversion G T G>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5660377 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.0555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.17 0.35 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.630 0.587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9269767 rs9269767 rs9269767 rs9269767 1 1538 10 1/0 0,255,255 +rs9269768 6 32548727 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548727 32548727 Chr6(GRCh37):g.32548727A>G 653-94 653-94 NM_001243965.1:c.653-94T>C p.? p.? 4 3 142857 -94 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 rs9269768 yes no Frequency/1000G 2 G 0.000000 0 0.827077 0.858500 0.736200 0.788700 0.862800 0.899100 transition T C T>C 0.000 -0.198 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5686275 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 0.0299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1729 . . . 0.2 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269768 0.326 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs9269768 rs9269768 rs9269768 rs9269768 1 1538 10 1/0 0,255,255 +rs9269768 6 32548727 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548727 32548727 Chr6(GRCh37):g.32548727A>G 653-94 653-94 NM_022555.3:c.653-94T>C p.? p.? 4 3 612735 -94 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 rs9269768 yes no Frequency/1000G 2 G 0.000000 0 0.827077 0.858500 0.736200 0.788700 0.862800 0.899100 transition T C T>C 0.000 -0.198 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5686275 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 0.0299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1729 . . . 0.2 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269768 0.326 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs9269768 rs9269768 rs9269768 rs9269768 1 1538 10 1/0 0,255,255 +rs9269768 6 32548727 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548727 32548727 Chr6(GRCh37):g.32548727A>G 653-94 653-94 NM_021983.4:c.653-94T>C p.? p.? 4 3 -94 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 rs9269768 yes no Frequency/1000G 2 G 0.000000 0 0.827077 0.858500 0.736200 0.788700 0.862800 0.899100 transition T C T>C 0.000 -0.198 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5686275 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 0.0299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1729 . . . 0.2 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269768 0.326 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs9269768 rs9269768 rs9269768 rs9269768 1 1538 10 1/0 0,255,255 +rs9269769 6 32548728 G T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548728 32548728 Chr6(GRCh37):g.32548728G>T 653-95 653-95 NM_001243965.1:c.653-95C>A p.? p.? 4 3 142857 -95 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 rs9269769 no no 0 G 0.000000 0 transversion C A C>A 0.000 -1.489 245 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . rs9269769 rs9269769 rs9269769 rs9269769 1 1538 10 1/0 0,255,255 +rs9269769 6 32548728 G T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548728 32548728 Chr6(GRCh37):g.32548728G>T 653-95 653-95 NM_022555.3:c.653-95C>A p.? p.? 4 3 612735 -95 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 rs9269769 no no 0 G 0.000000 0 transversion C A C>A 0.000 -1.489 245 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . rs9269769 rs9269769 rs9269769 rs9269769 1 1538 10 1/0 0,255,255 +rs9269769 6 32548728 G T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548728 32548728 Chr6(GRCh37):g.32548728G>T 653-95 653-95 NM_021983.4:c.653-95C>A p.? p.? 4 3 -95 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 rs9269769 no no 0 G 0.000000 0 transversion C A C>A 0.000 -1.489 245 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . rs9269769 rs9269769 rs9269769 rs9269769 1 1538 10 1/0 0,255,255 +rs9269771 6 32548734 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548734 32548734 Chr6(GRCh37):g.32548734T>C 653-101 653-101 NM_001243965.1:c.653-101A>G p.? p.? 4 3 142857 -101 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 Cryptic Acceptor Strongly Activated 32548728 0.006218 3.87998 0.005509 78.2028 rs9269771 yes no Frequency/1000G 2 C 0.000000 0 0.766374 0.842700 0.691200 0.717300 0.778300 0.781000 transition A G A>G 0.000 -0.602 255 PASS . . . . . 0.84 0.77 0.78 0.72 0.78 0.69 . . . . . 0.5769231 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.2336 . . . 0.18 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269771 0.554 0.522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.55 rs9269771 rs9269771 rs9269771 rs9269771 1 1538 10 1/0 0,255,255 +rs9269771 6 32548734 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548734 32548734 Chr6(GRCh37):g.32548734T>C 653-101 653-101 NM_022555.3:c.653-101A>G p.? p.? 4 3 612735 -101 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 Cryptic Acceptor Strongly Activated 32548728 0.006218 3.87998 0.005509 78.2028 rs9269771 yes no Frequency/1000G 2 C 0.000000 0 0.766374 0.842700 0.691200 0.717300 0.778300 0.781000 transition A G A>G 0.000 -0.602 255 PASS . . . . . 0.84 0.77 0.78 0.72 0.78 0.69 . . . . . 0.5769231 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.2336 . . . 0.18 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269771 0.554 0.522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.55 rs9269771 rs9269771 rs9269771 rs9269771 1 1538 10 1/0 0,255,255 +rs9269771 6 32548734 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548734 32548734 Chr6(GRCh37):g.32548734T>C 653-101 653-101 NM_021983.4:c.653-101A>G p.? p.? 4 3 -101 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 Cryptic Acceptor Strongly Activated 32548728 0.006218 3.87998 0.005509 78.2028 rs9269771 yes no Frequency/1000G 2 C 0.000000 0 0.766374 0.842700 0.691200 0.717300 0.778300 0.781000 transition A G A>G 0.000 -0.602 255 PASS . . . . . 0.84 0.77 0.78 0.72 0.78 0.69 . . . . . 0.5769231 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.2336 . . . 0.18 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269771 0.554 0.522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.55 rs9269771 rs9269771 rs9269771 rs9269771 1 1538 10 1/0 0,255,255 +rs9269772 6 32548763 A T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548763 32548763 Chr6(GRCh37):g.32548763A>T 653-130 653-130 NM_001243965.1:c.653-130T>A p.? p.? 4 3 142857 -130 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 New Acceptor Site 32548761 7.99812 0.977443 95.0825 rs9269772 yes no Frequency/1000G 2 0.000000 0 transversion T A T>A 0.000 -0.924 102 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.3463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.19 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.152 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . 0.15 rs9269772 rs9269772 rs9269772 rs9269772 1 1538 10 1/0 0,255,255 +rs9269772 6 32548763 A T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548763 32548763 Chr6(GRCh37):g.32548763A>T 653-130 653-130 NM_022555.3:c.653-130T>A p.? p.? 4 3 612735 -130 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 New Acceptor Site 32548761 7.99812 0.977443 95.0825 rs9269772 yes no Frequency/1000G 2 0.000000 0 transversion T A T>A 0.000 -0.924 102 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.3463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.19 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.152 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . 0.15 rs9269772 rs9269772 rs9269772 rs9269772 1 1538 10 1/0 0,255,255 +rs9269772 6 32548763 A T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548763 32548763 Chr6(GRCh37):g.32548763A>T 653-130 653-130 NM_021983.4:c.653-130T>A p.? p.? 4 3 -130 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 New Acceptor Site 32548761 7.99812 0.977443 95.0825 rs9269772 yes no Frequency/1000G 2 0.000000 0 transversion T A T>A 0.000 -0.924 102 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.3463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.19 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.152 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . 0.15 rs9269772 rs9269772 rs9269772 rs9269772 1 1538 10 1/0 0,255,255 +rs9269793 6 32549236 T G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549236 32549236 Chr6(GRCh37):g.32549236T>G 652+98 652+98 NM_001243965.1:c.652+98A>C p.? p.? 3 3 142857 98 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.73221 0 rs9269793 yes no Frequency/1000G 2 G 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transversion A C A>C 0.000 0.528 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5762712 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.1208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.33 0.4 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . II.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs9269793 rs9269793 rs9269793 rs9269793 1 1538 10 1/0 0,246,246 +rs9269793 6 32549236 T G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549236 32549236 Chr6(GRCh37):g.32549236T>G 652+98 652+98 NM_022555.3:c.652+98A>C p.? p.? 3 3 612735 98 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.19058 0 rs9269793 yes no Frequency/1000G 2 G 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transversion A C A>C 0.000 0.528 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5762712 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.1208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.33 0.4 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . II.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs9269793 rs9269793 rs9269793 rs9269793 1 1538 10 1/0 0,246,246 +rs9269793 6 32549236 T G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549236 32549236 Chr6(GRCh37):g.32549236T>G 652+98 652+98 NM_021983.4:c.652+98A>C p.? p.? 3 3 98 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.54741 0 rs9269793 yes no Frequency/1000G 2 G 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transversion A C A>C 0.000 0.528 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5762712 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.1208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.33 0.4 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . II.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs9269793 rs9269793 rs9269793 rs9269793 1 1538 10 1/0 0,246,246 +rs866140198 6 32549237 A C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549237 32549237 Chr6(GRCh37):g.32549237A>C 652+97 652+97 NM_001243965.1:c.652+97T>G p.? p.? 3 3 142857 97 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.73221 0 rs866140198 no no 0 A 0.000000 0 transversion T G T>G 0.000 -0.279 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.0648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs35747774 rs35747774 . . 1 1538 10 1/0 0,216,255 +rs866140198 6 32549237 A C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549237 32549237 Chr6(GRCh37):g.32549237A>C 652+97 652+97 NM_022555.3:c.652+97T>G p.? p.? 3 3 612735 97 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.19058 0 rs866140198 no no 0 A 0.000000 0 transversion T G T>G 0.000 -0.279 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.0648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs35747774 rs35747774 . . 1 1538 10 1/0 0,216,255 +rs866140198 6 32549237 A C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549237 32549237 Chr6(GRCh37):g.32549237A>C 652+97 652+97 NM_021983.4:c.652+97T>G p.? p.? 3 3 97 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.54741 0 rs866140198 no no 0 A 0.000000 0 transversion T G T>G 0.000 -0.279 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.0648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs35747774 rs35747774 . . 1 1538 10 1/0 0,216,255 +rs41292729 6 32549246 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549246 32549246 Chr6(GRCh37):g.32549246T>C 652+88 652+88 NM_001243965.1:c.652+88A>G p.? p.? 3 3 142857 88 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.73221 0 rs41292729 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.117 211 PASS . . . . . . . . . . . . . . . . 0.18803419 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . -0.2902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.29 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.011 rs41292729 rs41292729 rs41292729 rs41292729 1 1538 10 1/0 0,227,255 +rs41292729 6 32549246 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549246 32549246 Chr6(GRCh37):g.32549246T>C 652+88 652+88 NM_022555.3:c.652+88A>G p.? p.? 3 3 612735 88 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.19058 0 rs41292729 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.117 211 PASS . . . . . . . . . . . . . . . . 0.18803419 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . -0.2902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.29 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.011 rs41292729 rs41292729 rs41292729 rs41292729 1 1538 10 1/0 0,227,255 +rs41292729 6 32549246 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549246 32549246 Chr6(GRCh37):g.32549246T>C 652+88 652+88 NM_021983.4:c.652+88A>G p.? p.? 3 3 88 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.54741 0 rs41292729 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.117 211 PASS . . . . . . . . . . . . . . . . 0.18803419 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . -0.2902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.29 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.011 rs41292729 rs41292729 rs41292729 rs41292729 1 1538 10 1/0 0,227,255 +rs9269794 6 32549249 G C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549249 32549249 Chr6(GRCh37):g.32549249G>C 652+85 652+85 NM_001243965.1:c.652+85C>G p.? p.? 3 3 142857 85 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.73221 0 rs9269794 yes no Frequency/HapMap 2 G 0.000000 0 transversion C G C>G 0.000 -0.037 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.1784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.33 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs9269794 rs9269794 rs9269794 rs9269794 1 1538 10 1/0 0,229,255 +rs9269794 6 32549249 G C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549249 32549249 Chr6(GRCh37):g.32549249G>C 652+85 652+85 NM_022555.3:c.652+85C>G p.? p.? 3 3 612735 85 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.19058 0 rs9269794 yes no Frequency/HapMap 2 G 0.000000 0 transversion C G C>G 0.000 -0.037 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.1784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.33 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs9269794 rs9269794 rs9269794 rs9269794 1 1538 10 1/0 0,229,255 +rs9269794 6 32549249 G C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549249 32549249 Chr6(GRCh37):g.32549249G>C 652+85 652+85 NM_021983.4:c.652+85C>G p.? p.? 3 3 85 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.54741 0 rs9269794 yes no Frequency/HapMap 2 G 0.000000 0 transversion C G C>G 0.000 -0.037 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.1784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.33 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs9269794 rs9269794 rs9269794 rs9269794 1 1538 10 1/0 0,229,255 +rs9269795 6 32549259 G A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549259 32549259 Chr6(GRCh37):g.32549259G>A 652+75 652+75 NM_001243965.1:c.652+75C>T p.? p.? 3 3 142857 75 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.64668 0 rs9269795 yes no Frequency/1000G 2 A 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transition C T C>T 0.000 -0.117 255 PASS 0.82 0.84 0.88 0.8 0.85 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5955882 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.34 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 52212 0.803558 64976 48559 0.809506 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.88 rs34832942 rs34832942 rs9269795 rs9269795 1 1538 10 1/0 0,243,244 +rs9269795 6 32549259 G A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549259 32549259 Chr6(GRCh37):g.32549259G>A 652+75 652+75 NM_022555.3:c.652+75C>T p.? p.? 3 3 612735 75 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.10505 0 rs9269795 yes no Frequency/1000G 2 A 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transition C T C>T 0.000 -0.117 255 PASS 0.82 0.84 0.88 0.8 0.85 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5955882 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.34 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 52212 0.803558 64976 48559 0.809506 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.88 rs34832942 rs34832942 rs9269795 rs9269795 1 1538 10 1/0 0,243,244 +rs9269795 6 32549259 G A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549259 32549259 Chr6(GRCh37):g.32549259G>A 652+75 652+75 NM_021983.4:c.652+75C>T p.? p.? 3 3 75 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.46188 0 rs9269795 yes no Frequency/1000G 2 A 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transition C T C>T 0.000 -0.117 255 PASS 0.82 0.84 0.88 0.8 0.85 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5955882 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.34 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 52212 0.803558 64976 48559 0.809506 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.88 rs34832942 rs34832942 rs9269795 rs9269795 1 1538 10 1/0 0,243,244 +rs9269796 6 32549278 T G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549278 32549278 Chr6(GRCh37):g.32549278T>G 652+56 652+56 NM_001243965.1:c.652+56A>C p.? p.? 3 3 142857 56 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.93949 0 rs9269796 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.000 0.205 255 PASS 0.26 0.2 0.21 0.16 0.19 . . . . . . . . . . . 0.3432836 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.27 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs9269796 rs9269796 rs9269796 rs9269796 1 1538 10 1/0 0,234,255 +rs9269796 6 32549278 T G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549278 32549278 Chr6(GRCh37):g.32549278T>G 652+56 652+56 NM_022555.3:c.652+56A>C p.? p.? 3 3 612735 56 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.39786 0 rs9269796 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.000 0.205 255 PASS 0.26 0.2 0.21 0.16 0.19 . . . . . . . . . . . 0.3432836 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.27 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs9269796 rs9269796 rs9269796 rs9269796 1 1538 10 1/0 0,234,255 +rs9269796 6 32549278 T G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549278 32549278 Chr6(GRCh37):g.32549278T>G 652+56 652+56 NM_021983.4:c.652+56A>C p.? p.? 3 3 56 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.75469 0 rs9269796 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.000 0.205 255 PASS 0.26 0.2 0.21 0.16 0.19 . . . . . . . . . . . 0.3432836 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.27 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs9269796 rs9269796 rs9269796 rs9269796 1 1538 10 1/0 0,234,255 +rs111760370 6 32549279 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549279 32549279 Chr6(GRCh37):g.32549279A>G 652+55 652+55 NM_001243965.1:c.652+55T>C p.? p.? 3 3 142857 55 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.90807 0 rs111760370 no no 0 A 0.000000 0 transition T C T>C 0.000 0.448 188 PASS . . . . . . . . . . . . . . . . 0.13076924 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.1042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs35263441 rs35263441 rs111760370 rs111760370 1 1538 10 1/0 0,218,255 +rs111760370 6 32549279 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549279 32549279 Chr6(GRCh37):g.32549279A>G 652+55 652+55 NM_022555.3:c.652+55T>C p.? p.? 3 3 612735 55 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.36644 0 rs111760370 no no 0 A 0.000000 0 transition T C T>C 0.000 0.448 188 PASS . . . . . . . . . . . . . . . . 0.13076924 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.1042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs35263441 rs35263441 rs111760370 rs111760370 1 1538 10 1/0 0,218,255 +rs111760370 6 32549279 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549279 32549279 Chr6(GRCh37):g.32549279A>G 652+55 652+55 NM_021983.4:c.652+55T>C p.? p.? 3 3 55 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.72327 0 rs111760370 no no 0 A 0.000000 0 transition T C T>C 0.000 0.448 188 PASS . . . . . . . . . . . . . . . . 0.13076924 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.1042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs35263441 rs35263441 rs111760370 rs111760370 1 1538 10 1/0 0,218,255 +rs767449242 6 32551873 C G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32551873 32551873 Chr6(GRCh37):g.32551873C>G 370+13 370+13 NM_001243965.1:c.370+13G>C p.? p.? 2 2 142857 13 5' 86.8044 8.70331 0.987114 9.93106 86.8044 8.70331 0.987114 X.96 0 rs767449242 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1667 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34824555 rs34824555 . . 1 1538 10 1/0 0,237,255 +rs767449242 6 32551873 C G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32551873 32551873 Chr6(GRCh37):g.32551873C>G 370+13 370+13 NM_022555.3:c.370+13G>C p.? p.? 2 2 612735 13 5' 86.8044 8.70331 0.987114 9.64053 86.8044 8.70331 0.987114 9.96902 0 rs767449242 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1667 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34824555 rs34824555 . . 1 1538 10 1/0 0,237,255 +rs767449242 6 32551873 C G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32551873 32551873 Chr6(GRCh37):g.32551873C>G 370+13 370+13 NM_021983.4:c.370+13G>C p.? p.? 2 2 13 5' 86.8044 8.70331 0.987114 9.05555 86.8044 8.70331 0.987114 9.38404 0 rs767449242 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1667 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34824555 rs34824555 . . 1 1538 10 1/0 0,237,255 +rs9269940 6 32551879 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32551879 32551879 Chr6(GRCh37):g.32551879T>C 370+7 370+7 NM_001243965.1:c.370+7A>G p.? p.? 2 2 142857 7 5' 86.8044 8.70331 0.987114 9.93106 86.8044 8.70331 0.973273 X.92 -0.00467389 rs9269940 yes no Frequency/1000G 2 T 0.000000 0 0.491813 0.566600 0.370100 0.418700 0.544700 0.550400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45984 2714 4518 1310 3096 9036 20110 4102 1098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 114 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . 0.57 0.49 0.55 0.42 0.54 0.37 . . . . . 0.43650794 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.058 . @ . . . . . 2 0.021 . . 126.0 . . . . . . . . . . -0.5101 0.102 -0.510 n . . . . . 3.311e-04 . . . 0 0.0003 0 0 0 0.0007 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . intronic ncRNA_intronic intronic . . 0.053 0.4918 . . . 0.28 0.43 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.239 . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.025 . . . . . . . . 1.0E-255 0.000 0.063 . 0.074 0.002 . 0.150 . 0.031 . -0.915 . rs9269940 rs9269940 rs9269940 rs9269940 1 1538 10 1/0 0,245,255 +rs9269940 6 32551879 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32551879 32551879 Chr6(GRCh37):g.32551879T>C 370+7 370+7 NM_022555.3:c.370+7A>G p.? p.? 2 2 612735 7 5' 86.8044 8.70331 0.987114 9.64053 86.8044 8.70331 0.973273 X.87 -0.00467389 rs9269940 yes no Frequency/1000G 2 T 0.000000 0 0.491813 0.566600 0.370100 0.418700 0.544700 0.550400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45984 2714 4518 1310 3096 9036 20110 4102 1098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 114 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . 0.57 0.49 0.55 0.42 0.54 0.37 . . . . . 0.43650794 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.058 . @ . . . . . 2 0.021 . . 126.0 . . . . . . . . . . -0.5101 0.102 -0.510 n . . . . . 3.311e-04 . . . 0 0.0003 0 0 0 0.0007 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . intronic ncRNA_intronic intronic . . 0.053 0.4918 . . . 0.28 0.43 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.239 . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.025 . . . . . . . . 1.0E-255 0.000 0.063 . 0.074 0.002 . 0.150 . 0.031 . -0.915 . rs9269940 rs9269940 rs9269940 rs9269940 1 1538 10 1/0 0,245,255 +rs9269940 6 32551879 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32551879 32551879 Chr6(GRCh37):g.32551879T>C 370+7 370+7 NM_021983.4:c.370+7A>G p.? p.? 2 2 7 5' 86.8044 8.70331 0.987114 9.05555 86.8044 8.70331 0.973273 9.83368 -0.00467389 rs9269940 yes no Frequency/1000G 2 T 0.000000 0 0.491813 0.566600 0.370100 0.418700 0.544700 0.550400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45984 2714 4518 1310 3096 9036 20110 4102 1098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 114 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . 0.57 0.49 0.55 0.42 0.54 0.37 . . . . . 0.43650794 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.058 . @ . . . . . 2 0.021 . . 126.0 . . . . . . . . . . -0.5101 0.102 -0.510 n . . . . . 3.311e-04 . . . 0 0.0003 0 0 0 0.0007 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . intronic ncRNA_intronic intronic . . 0.053 0.4918 . . . 0.28 0.43 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.239 . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.025 . . . . . . . . 1.0E-255 0.000 0.063 . 0.074 0.002 . 0.150 . 0.031 . -0.915 . rs9269940 rs9269940 rs9269940 rs9269940 1 1538 10 1/0 0,245,255 +rs16822805 (chr6:32551949 C/G) 6 32551949 C G Transcript NM_001243965.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB1 +rs16822805 (chr6:32551949 C/G) 6 32551949 C G Transcript NM_022555.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB3 +rs16822805 6 32551949 C G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution missense exon GRCh37 32551949 32551949 Chr6(GRCh37):g.32551949C>G 307 307 NM_021983.4:c.307G>C p.Glu103Gln p.Glu103Gln 2 -64 5' 86.8044 8.70331 0.987114 9.05555 86.8044 8.70331 0.987114 8.73316 0 Cryptic Donor Strongly Activated 32551947 0.756246 0.021796 64.5722 3.09325 0.068961 67.6269 MHC class II, beta chain, N-terminal rs16822805 yes no Frequency 1 C 0.000000 0 0.001228 0.013677 0.000454 0.000000 0.000278 0.000457 0.000241 0.000637 0.000000 0.013677 171 129 8 0 2 8 16 8 0 139250 9432 17616 5498 7194 17494 66276 12562 3178 0.000115 0.001484 0.000000 0.000000 0.000000 0.000114 0.000000 0.000000 0.000000 8 7 0 0 0 1 0 0 0 150 110 8 0 2 6 16 8 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 0.205 E Glu GAG 0.583 Q Gln CAG 0.744 103 2 2 3 0.92 0.89 12.III 10.V 83 85 29 184 PASS . . . . . . . . . . . ENSG00000196126:ENST00000360004:exon2:c.G307C:p.A103P HLA-DRB1:uc003obp.4:exon2:c.G307C:p.A103P HLA-DRB1:NM_002124:exon2:c.G307C:p.A103P . . 0.12107623 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.299 . @ . . . . . 1 0.248 . . 223.0 . . . . . . . . . . -1.5077 -1.571 -1.508 c . . . . . . . . . 0.0248 0.0046 0.0024 0.0024 0.0044 0.0023 0 0.0016 0.0266 0.0038 0.0025 0.0018 0.0027 0.0019 0 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.003 . . exonic exonic exonic . . 0.168 @ . . . 0.3 0.45 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 . . . 1.000 0.416 . . . . . . . Likely_benign . 0 . 0.020 . . . . . . . . . 37 . 0.000 . . 0.233 . . . 0.482 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.480 . . 0 0 0 0 0 0 . 0.290 . . 0.347 . . . . . . 0 0.408 . . . . . 0.071 . 0.584 . LowAF 0.05 . . . . . . . . . . . . . III.95 . ENST00000360004 III.52 0.631 . 0.070000 P01911 . . . . . 0.051 . . . 0.0072 0.0005 0.0002 0 0.0002 0 0.0002 0 0.0005 0.0255 0.0081 0.0105 0 0.0012 0.0047 0.0008 0 . . 0.401 . 0.007 0.007000 . . 0.070000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.027 . 0.002 . 0.005 0.007 -0.054 . . . rs16822805 rs16822805 1 1538 10 1/0 0,193,255 +rs17878857 (chr6:32551951 G/C) 6 32551951 G C Transcript NM_001243965.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB1 +rs17878857 (chr6:32551951 G/C) 6 32551951 G C Transcript NM_022555.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB3 +rs17878857 6 32551951 G C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution missense exon GRCh37 32551951 32551951 Chr6(GRCh37):g.32551951G>C 305 305 NM_021983.4:c.305C>G p.Ala102Gly p.Ala102Gly 2 -66 5' 86.8044 8.70331 0.987114 9.05555 86.8044 8.70331 0.987114 9.03003 0 MHC class II, beta chain, N-terminal rs17878857 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.173 1.416 A Ala GCC 0.403 G Gly GGC 0.342 102 0 0 0 0 0.74 8.I 9 31 3 60 184 PASS . . . . . . . . . . . ENSG00000196126:ENST00000360004:exon2:c.C305G:p.A102G HLA-DRB1:uc003obp.4:exon2:c.C305G:p.A102G HLA-DRB1:NM_002124:exon2:c.C305G:p.A102G . . 0.122171946 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.326 . . 221.0 . . . . . . . . . . -0.8018 -0.854 -0.802 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.304 @ . . . 0.29 0.36 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.020 . . . . T 0.059 0.003 . . 37 . 0.001 . . 0.414 . . . . 0.192 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.611 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.279 . . . . . 0.316 . 0.681 . LowAF 0.1 . . . . . . . . . . . . . VIII.39 . ENST00000360004 III.52 II.64 . 0.100000 P01911 . . . . . 0.132 . . II.64 . . . . . . . . . . . . . . . . . . . 0.401 . 0.822 0.822000 . . 0.100000 . . 9.999999999999999E-185 0.000 0.063 . 0.090 0.027 . 0.173 . 0.114 0.822 0.897 . rs17878857 rs17878857 rs1059596 rs1059596 1 1538 10 1/0 0,194,255 +rs41285655 6 32552171 C T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552171 32552171 Chr6(GRCh37):g.32552171C>T 101-16 101-16 NM_001243965.1:c.101-16G>A p.? p.? 2 1 142857 -16 3' 80.37 8.57323 0.457948 6.24344 80.37 8.51373 0.519547 6.49405 0.0425235 rs41285655 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.000 -4.476 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.6946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.36 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs41285655 rs41285655 rs41285655 rs41285655 1 1538 10 1/0 0,216,255 +rs41285655 6 32552171 C T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552171 32552171 Chr6(GRCh37):g.32552171C>T 101-16 101-16 NM_022555.3:c.101-16G>A p.? p.? 2 1 612735 -16 3' 80.37 8.57323 0.248309 6.00077 80.37 8.51373 0.334741 6.25138 0.113714 rs41285655 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.000 -4.476 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.6946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.36 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs41285655 rs41285655 rs41285655 rs41285655 1 1538 10 1/0 0,216,255 +rs41285655 6 32552171 C T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552171 32552171 Chr6(GRCh37):g.32552171C>T 101-16 101-16 NM_021983.4:c.101-16G>A p.? p.? 2 1 -16 3' 80.37 8.57323 0.623412 5.96737 80.37 8.51373 0.703846 6.21799 0.0406939 rs41285655 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.000 -4.476 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.6946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.36 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs41285655 rs41285655 rs41285655 rs41285655 1 1538 10 1/0 0,216,255 +rs41285659 6 32552173 A C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552173 32552173 Chr6(GRCh37):g.32552173A>C 101-18 101-18 NM_001243965.1:c.101-18T>G p.? p.? 2 1 142857 -18 3' 80.37 8.57323 0.457948 6.24344 80.37 7.03828 0.288928 3.08728 -0.182707 32552174 -6.94118 rs41285659 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -0.198 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . 0.1588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs41285659 rs41285659 rs41285659 rs41285659 1 1538 10 1/0 0,222,255 +rs41285659 6 32552173 A C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552173 32552173 Chr6(GRCh37):g.32552173A>C 101-18 101-18 NM_022555.3:c.101-18T>G p.? p.? 2 1 612735 -18 3' 80.37 8.57323 0.248309 6.00077 80.37 7.03828 0.151922 2.84461 -0.189071 32552174 -6.94118 rs41285659 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -0.198 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . 0.1588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs41285659 rs41285659 rs41285659 rs41285659 1 1538 10 1/0 0,222,255 +rs41285659 6 32552173 A C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552173 32552173 Chr6(GRCh37):g.32552173A>C 101-18 101-18 NM_021983.4:c.101-18T>G p.? p.? 2 1 -18 3' 80.37 8.57323 0.623412 5.96737 80.37 7.03828 0.49501 2.81121 -0.128336 32552174 -6.94118 rs41285659 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -0.198 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . 0.1588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs41285659 rs41285659 rs41285659 rs41285659 1 1538 10 1/0 0,222,255 +rs9269964 6 32552212 C T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552212 32552212 Chr6(GRCh37):g.32552212C>T 101-57 101-57 NM_001243965.1:c.101-57G>A p.? p.? 2 1 142857 -57 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 6.36197 0 rs9269964 yes no Frequency/1000G 2 C 0.000000 0 0.378794 0.486400 0.291400 0.366100 0.355900 0.348700 transition G A G>A 0.000 -1.409 192 PASS 0.35 0.28 0.27 0.28 0.23 0.49 0.38 0.35 0.37 0.36 0.29 . . . . . 0.14 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . 0.0475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3788 . . . 0.28 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.054 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.35 rs9269964 rs9269964 rs9269964 rs9269964 1 1538 10 1/0 0,230,255 +rs9269964 6 32552212 C T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552212 32552212 Chr6(GRCh37):g.32552212C>T 101-57 101-57 NM_022555.3:c.101-57G>A p.? p.? 2 1 612735 -57 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 6.1193 0 rs9269964 yes no Frequency/1000G 2 C 0.000000 0 0.378794 0.486400 0.291400 0.366100 0.355900 0.348700 transition G A G>A 0.000 -1.409 192 PASS 0.35 0.28 0.27 0.28 0.23 0.49 0.38 0.35 0.37 0.36 0.29 . . . . . 0.14 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . 0.0475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3788 . . . 0.28 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.054 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.35 rs9269964 rs9269964 rs9269964 rs9269964 1 1538 10 1/0 0,230,255 +rs9269964 6 32552212 C T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552212 32552212 Chr6(GRCh37):g.32552212C>T 101-57 101-57 NM_021983.4:c.101-57G>A p.? p.? 2 1 -57 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 6.0859 0 rs9269964 yes no Frequency/1000G 2 C 0.000000 0 0.378794 0.486400 0.291400 0.366100 0.355900 0.348700 transition G A G>A 0.000 -1.409 192 PASS 0.35 0.28 0.27 0.28 0.23 0.49 0.38 0.35 0.37 0.36 0.29 . . . . . 0.14 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . 0.0475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3788 . . . 0.28 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.054 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.35 rs9269964 rs9269964 rs9269964 rs9269964 1 1538 10 1/0 0,230,255 +rs9269965 6 32552219 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552219 32552219 Chr6(GRCh37):g.32552219A>G 101-64 101-64 NM_001243965.1:c.101-64T>C p.? p.? 2 1 142857 -64 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 5.94337 0 rs9269965 yes no Frequency/1000G 2 A 0.000000 0 0.335064 0.487100 0.260700 0.192500 0.343900 0.344400 transition T C T>C 0.008 -2.216 247 PASS 0.36 0.25 0.26 0.17 0.24 0.49 0.34 0.34 0.19 0.34 0.26 . . . . . 0.2967033 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.6680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3351 . . . 0.26 0.37 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.076 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . 0.36 rs9269965 rs9269965 rs9269965 rs9269965 1 1538 10 1/0 0,250,255 +rs9269965 6 32552219 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552219 32552219 Chr6(GRCh37):g.32552219A>G 101-64 101-64 NM_022555.3:c.101-64T>C p.? p.? 2 1 612735 -64 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 V.07 0 rs9269965 yes no Frequency/1000G 2 A 0.000000 0 0.335064 0.487100 0.260700 0.192500 0.343900 0.344400 transition T C T>C 0.008 -2.216 247 PASS 0.36 0.25 0.26 0.17 0.24 0.49 0.34 0.34 0.19 0.34 0.26 . . . . . 0.2967033 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.6680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3351 . . . 0.26 0.37 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.076 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . 0.36 rs9269965 rs9269965 rs9269965 rs9269965 1 1538 10 1/0 0,250,255 +rs9269965 6 32552219 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552219 32552219 Chr6(GRCh37):g.32552219A>G 101-64 101-64 NM_021983.4:c.101-64T>C p.? p.? 2 1 -64 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 V.73 0 rs9269965 yes no Frequency/1000G 2 A 0.000000 0 0.335064 0.487100 0.260700 0.192500 0.343900 0.344400 transition T C T>C 0.008 -2.216 247 PASS 0.36 0.25 0.26 0.17 0.24 0.49 0.34 0.34 0.19 0.34 0.26 . . . . . 0.2967033 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.6680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3351 . . . 0.26 0.37 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.076 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . 0.36 rs9269965 rs9269965 rs9269965 rs9269965 1 1538 10 1/0 0,250,255 +rs41285663 6 32552231 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552231 32552231 Chr6(GRCh37):g.32552231T>C 101-76 101-76 NM_001243965.1:c.101-76A>G p.? p.? 2 1 142857 -76 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 6.56456 0 rs41285663 yes no Frequency/1000G 2 T 0.000000 0 0.118610 0.110400 0.091000 0.153800 0.107400 0.138300 transition A G A>G 0.000 -0.521 186 PASS 0.15 0.14 0.14 0.15 0.11 0.11 0.12 0.14 0.15 0.11 0.091 . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1186 . . . 0.33 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.15 rs41285663 rs41285663 rs41285663 rs41285663 1 1538 10 1/0 0,239,255 +rs41285663 6 32552231 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552231 32552231 Chr6(GRCh37):g.32552231T>C 101-76 101-76 NM_022555.3:c.101-76A>G p.? p.? 2 1 612735 -76 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 6.32189 0 rs41285663 yes no Frequency/1000G 2 T 0.000000 0 0.118610 0.110400 0.091000 0.153800 0.107400 0.138300 transition A G A>G 0.000 -0.521 186 PASS 0.15 0.14 0.14 0.15 0.11 0.11 0.12 0.14 0.15 0.11 0.091 . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1186 . . . 0.33 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.15 rs41285663 rs41285663 rs41285663 rs41285663 1 1538 10 1/0 0,239,255 +rs41285663 6 32552231 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552231 32552231 Chr6(GRCh37):g.32552231T>C 101-76 101-76 NM_021983.4:c.101-76A>G p.? p.? 2 1 -76 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 VI.85 0 rs41285663 yes no Frequency/1000G 2 T 0.000000 0 0.118610 0.110400 0.091000 0.153800 0.107400 0.138300 transition A G A>G 0.000 -0.521 186 PASS 0.15 0.14 0.14 0.15 0.11 0.11 0.12 0.14 0.15 0.11 0.091 . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1186 . . . 0.33 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.15 rs41285663 rs41285663 rs41285663 rs41285663 1 1538 10 1/0 0,239,255 +rs9269966 6 32552237 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552237 32552237 Chr6(GRCh37):g.32552237A>G 101-82 101-82 NM_001243965.1:c.101-82T>C p.? p.? 2 1 142857 -82 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 6.19589 0 32552235 -24.7594 rs9269966 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -3.426 254 PASS 0.77 0.78 0.83 0.75 0.8 . . . . . . . . . . . 0.31944445 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.43 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.130 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.83 rs9269966 rs9269966 rs9269966 rs9269966 1 1538 10 1/0 0,255,255 +rs9269966 6 32552237 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552237 32552237 Chr6(GRCh37):g.32552237A>G 101-82 101-82 NM_022555.3:c.101-82T>C p.? p.? 2 1 612735 -82 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 5.95322 0 32552235 -24.7594 rs9269966 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -3.426 254 PASS 0.77 0.78 0.83 0.75 0.8 . . . . . . . . . . . 0.31944445 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.43 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.130 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.83 rs9269966 rs9269966 rs9269966 rs9269966 1 1538 10 1/0 0,255,255 +rs9269966 6 32552237 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552237 32552237 Chr6(GRCh37):g.32552237A>G 101-82 101-82 NM_021983.4:c.101-82T>C p.? p.? 2 1 -82 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 5.91983 0 32552235 -24.7594 rs9269966 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -3.426 254 PASS 0.77 0.78 0.83 0.75 0.8 . . . . . . . . . . . 0.31944445 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.43 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.130 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.83 rs9269966 rs9269966 rs9269966 rs9269966 1 1538 10 1/0 0,255,255 +rs28724111 6 32552240 G C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552240 32552240 Chr6(GRCh37):g.32552240G>C 101-85 101-85 NM_001243965.1:c.101-85C>G p.? p.? 2 1 142857 -85 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 6.24344 0 rs28724111 yes no Frequency/1000G 2 G 0.000000 0 transversion C G C>G 0.000 0.044 253 PASS . . . . . . . . . . . . . . . . 0.3188406 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.1812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.087 rs28724111 rs28724111 rs28724111 rs28724111 1 1538 10 1/0 0,255,255 +rs28724111 6 32552240 G C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552240 32552240 Chr6(GRCh37):g.32552240G>C 101-85 101-85 NM_022555.3:c.101-85C>G p.? p.? 2 1 612735 -85 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 6.00077 0 rs28724111 yes no Frequency/1000G 2 G 0.000000 0 transversion C G C>G 0.000 0.044 253 PASS . . . . . . . . . . . . . . . . 0.3188406 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.1812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.087 rs28724111 rs28724111 rs28724111 rs28724111 1 1538 10 1/0 0,255,255 +rs28724111 6 32552240 G C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552240 32552240 Chr6(GRCh37):g.32552240G>C 101-85 101-85 NM_021983.4:c.101-85C>G p.? p.? 2 1 -85 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 5.96737 0 rs28724111 yes no Frequency/1000G 2 G 0.000000 0 transversion C G C>G 0.000 0.044 253 PASS . . . . . . . . . . . . . . . . 0.3188406 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.1812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.087 rs28724111 rs28724111 rs28724111 rs28724111 1 1538 10 1/0 0,255,255 +rs868766399 6 32557572 G T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557572 32557572 Chr6(GRCh37):g.32557572G>T -53 -53 NM_001243965.1:c.-53C>A p.? p.? 1 142857 -153 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 transversion C A C>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11851852 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 0.8194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-53C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +rs868766399 6 32557572 G T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557572 32557572 Chr6(GRCh37):g.32557572G>T -53 -53 NM_022555.3:c.-53C>A p.? p.? 1 612735 -153 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 transversion C A C>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11851852 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 0.8194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-53C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +rs868766399 6 32557572 G T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution 5'UTR GRCh37 32557572 32557572 Chr6(GRCh37):g.32557572G>T -53 -53 NM_021983.4:c.-53C>A p.? p.? 1 -153 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 transversion C A C>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11851852 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 0.8194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-53C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +. 6 32557584 A AC - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 insertion 5'UTR GRCh37 32557584 32557585 Chr6(GRCh37):g.32557584_32557585insC -66 -65 NM_001243965.1:c.-66_-65insG p.? p.? 1 142857 -165 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 rs769108864 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.11811024 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66_-65insG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs769108864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,93 +. 6 32557584 A AC - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 insertion upstream GRCh37 32557584 32557585 Chr6(GRCh37):g.32557584_32557585insC -66 -65 NM_022555.3:c.-66_-65insG p.? p.? 1 612735 -165 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 rs769108864 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.11811024 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66_-65insG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs769108864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,93 +. 6 32557584 A AC - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 delins 5'UTR GRCh37 32557584 32557584 Chr6(GRCh37):g.32557584delinsAC -65 -65 NM_021983.4:c.-65delinsGT p.? p.? 1 -165 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 GT C 255 Pass . . . . . . . . . . . . . . . . 0.11811024 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66_-65insG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs769108864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,93 +rs17211091 6 32557585 A C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557585 32557585 Chr6(GRCh37):g.32557585A>C -66 -66 NM_001243965.1:c.-66T>G p.? p.? 1 142857 -166 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 rs17211091 yes no Frequency/1000G 2 A 0.000000 0 0.393171 0.391100 0.376300 0.360100 0.416500 0.435200 transversion T G T>G 0.000 0.367 234 PASS . . . . . 0.39 0.39 0.44 0.36 0.42 0.38 . . . . . 0.25396827 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . 0.9028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.3932 . . . 0.52 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66T>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17211091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . rs28366222 rs28366222 rs17211091 rs17211091 1 1538 10 1/0 0,230,255 +rs17211091 6 32557585 A C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557585 32557585 Chr6(GRCh37):g.32557585A>C -66 -66 NM_022555.3:c.-66T>G p.? p.? 1 612735 -166 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 rs17211091 yes no Frequency/1000G 2 A 0.000000 0 0.393171 0.391100 0.376300 0.360100 0.416500 0.435200 transversion T G T>G 0.000 0.367 234 PASS . . . . . 0.39 0.39 0.44 0.36 0.42 0.38 . . . . . 0.25396827 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . 0.9028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.3932 . . . 0.52 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66T>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17211091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . rs28366222 rs28366222 rs17211091 rs17211091 1 1538 10 1/0 0,230,255 +rs17211091 (chr6:32557585 A/C) 6 32557585 A C Transcript NM_021983.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB4 +. 6 32557590 T A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557590 32557590 Chr6(GRCh37):g.32557590T>A -71 -71 NM_001243965.1:c.-71A>T p.? p.? 1 142857 -171 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 Cryptic Acceptor Strongly Activated 32557578 0.02037 1.36504 0.132843 60.4838 transversion A T A>T 0.000 0.367 177 PASS . . . . . . . . . . . . . . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 1.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-71A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 6 32557590 T A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557590 32557590 Chr6(GRCh37):g.32557590T>A -71 -71 NM_022555.3:c.-71A>T p.? p.? 1 612735 -171 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 Cryptic Acceptor Strongly Activated 32557578 0.02037 1.36504 0.132843 60.4838 transversion A T A>T 0.000 0.367 177 PASS . . . . . . . . . . . . . . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 1.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-71A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 6 32557590 T A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution upstream GRCh37 32557590 32557590 Chr6(GRCh37):g.32557590T>A -71 -71 NM_021983.4:c.-71A>T p.? p.? 1 -171 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 New Donor Site 32557592 0.425381 0.016428 68.9725 transversion A T A>T 0.000 0.367 177 PASS . . . . . . . . . . . . . . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 1.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-71A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 6 32557595 C T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557595 32557595 Chr6(GRCh37):g.32557595C>T -76 -76 NM_001243965.1:c.-76G>A p.? p.? 1 142857 -176 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 Cryptic Donor Strongly Activated 32557599 2.76443 0.062038 72.6353 7.79763 0.671838 82.716 transition G A G>A 0.000 0.044 186 PASS . . . . . . . . . . . . . . . . 0.12711865 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.9161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-76G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +. 6 32557595 C T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557595 32557595 Chr6(GRCh37):g.32557595C>T -76 -76 NM_022555.3:c.-76G>A p.? p.? 1 612735 -176 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 Cryptic Donor Strongly Activated 32557599 2.76443 0.062038 72.6353 7.79763 0.671838 82.716 transition G A G>A 0.000 0.044 186 PASS . . . . . . . . . . . . . . . . 0.12711865 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.9161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-76G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +. 6 32557595 C T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution upstream GRCh37 32557595 32557595 Chr6(GRCh37):g.32557595C>T -76 -76 NM_021983.4:c.-76G>A p.? p.? 1 -176 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 Cryptic Donor Strongly Activated 32557599 2.76443 0.062038 72.6353 7.79763 0.671838 82.716 transition G A G>A 0.000 0.044 186 PASS . . . . . . . . . . . . . . . . 0.12711865 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.9161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-76G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +. 6 32557608 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557608 32557608 Chr6(GRCh37):g.32557608T>C -89 -89 NM_001243965.1:c.-89A>G p.? p.? 1 142857 -189 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 transition A G A>G 0.000 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.104761906 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.3004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-89A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 6 32557608 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557608 32557608 Chr6(GRCh37):g.32557608T>C -89 -89 NM_022555.3:c.-89A>G p.? p.? 1 612735 -189 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 transition A G A>G 0.000 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.104761906 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.3004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-89A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 6 32557608 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution upstream GRCh37 32557608 32557608 Chr6(GRCh37):g.32557608T>C -89 -89 NM_021983.4:c.-89A>G p.? p.? 1 -189 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 transition A G A>G 0.000 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.104761906 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.3004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-89A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs9270314 6 32557617 G T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution upstream GRCh37 32557617 32557617 Chr6(GRCh37):g.32557617G>T -98 -98 NM_001243965.1:c.-98C>A p.? p.? 1 142857 -198 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 rs9270314 yes no Frequency/1000G 2 G 0.000000 0 0.437500 0.488700 0.399800 0.435500 0.412500 0.432300 transversion C A C>A 0.000 -0.521 255 PASS . . . . . 0.49 0.44 0.43 0.44 0.41 0.4 . . . . . 0.35714287 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . 0.7788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.4375 . . . 0.49 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-98C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9270314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9270314 rs9270314 rs9270314 rs9270314 1 1538 10 1/0 0,245,255 +rs9270314 6 32557617 G T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557617 32557617 Chr6(GRCh37):g.32557617G>T -98 -98 NM_022555.3:c.-98C>A p.? p.? 1 612735 -198 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 rs9270314 yes no Frequency/1000G 2 G 0.000000 0 0.437500 0.488700 0.399800 0.435500 0.412500 0.432300 transversion C A C>A 0.000 -0.521 255 PASS . . . . . 0.49 0.44 0.43 0.44 0.41 0.4 . . . . . 0.35714287 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . 0.7788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.4375 . . . 0.49 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-98C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9270314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9270314 rs9270314 rs9270314 rs9270314 1 1538 10 1/0 0,245,255 +rs9270314 6 32557617 G T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution upstream GRCh37 32557617 32557617 Chr6(GRCh37):g.32557617G>T -98 -98 NM_021983.4:c.-98C>A p.? p.? 1 -198 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 rs9270314 yes no Frequency/1000G 2 G 0.000000 0 0.437500 0.488700 0.399800 0.435500 0.412500 0.432300 transversion C A C>A 0.000 -0.521 255 PASS . . . . . 0.49 0.44 0.43 0.44 0.41 0.4 . . . . . 0.35714287 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . 0.7788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.4375 . . . 0.49 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-98C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9270314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9270314 rs9270314 rs9270314 rs9270314 1 1538 10 1/0 0,245,255 +rs9272441 6 32605380 T G - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605380 32605380 Chr6(GRCh37):g.32605380T>G 82+63 82+63 NM_002122.3:c.82+63T>G p.? p.? 1 1 146880 63 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 III.14 0 rs9272441 yes no Frequency/1000G 2 0.000000 0 0.555112 0.512100 0.487700 0.541700 0.590500 0.700300 transversion T G T>G 0.000 -1.005 254 PASS 0.47 0.56 0.67 0.55 0.57 0.51 0.56 0.7 0.54 0.59 0.49 . . . . . 0.3243243 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.1295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4449 . . . 0.25 0.47 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . 27007 0.415646 64976 24957 0.416047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.293 0.290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.67 rs9272441 rs9272441 rs9272441 rs9272441 1 1538 10 1/0 0,255,255 +rs9272442 6 32605400 C T - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605400 32605400 Chr6(GRCh37):g.32605400C>T 82+83 82+83 NM_002122.3:c.82+83C>T p.? p.? 1 1 146880 83 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 rs9272442 yes no Frequency/1000G 2 0.000000 0 0.551518 0.504500 0.483600 0.541700 0.586500 0.700300 transition C T C>T 0.000 -3.184 255 PASS 0.46 0.56 0.67 0.55 0.57 0.5 0.55 0.7 0.54 0.59 0.48 . . . . . 0.33333334 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.3142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4485 . . . 0.25 0.5 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.293 0.283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.67 rs9272442 rs9272442 rs9272442 rs9272442 1 1538 10 1/0 0,255,255 +rs9272445 6 32605420 C T - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605420 32605420 Chr6(GRCh37):g.32605420C>T 82+103 82+103 NM_002122.3:c.82+103C>T p.? p.? 1 1 146880 103 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 rs9272445 yes no Frequency/1000G 2 0.000000 0 0.027955 0.033300 0.010200 0.014900 0.035800 0.050400 transition C T C>T 0.000 -1.247 255 PASS . . . . . 0.033 0.028 0.05 0.015 0.036 0.01 . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.0798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0280 . . . 0.21 0.51 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.098 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs9272445 rs9272445 rs9272445 rs9272445 1 1538 10 1/0 0,255,255 +rs9272446 6 32605423 T C - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605423 32605423 Chr6(GRCh37):g.32605423T>C 82+106 82+106 NM_002122.3:c.82+106T>C p.? p.? 1 1 146880 106 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 rs9272446 yes no Frequency/1000G 2 0.000000 0 0.246206 0.295000 0.180000 0.215300 0.247500 0.289600 transition T C T>C 0.000 -1.086 255 PASS 0.24 0.2 0.28 0.16 0.18 0.29 0.25 0.29 0.22 0.25 0.18 . . . . . 0.39285713 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.1344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2462 . . . 0.21 0.46 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . 3260 0.0501724 64976 3087 0.051462 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.141 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.28 rs9272446 rs9272446 rs9272446 rs9272446 1 1538 10 1/0 0,255,255 +rs7751376 6 32605437 C G - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605437 32605437 Chr6(GRCh37):g.32605437C>G 82+120 82+120 NM_002122.3:c.82+120C>G p.? p.? 1 1 146880 120 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 rs7751376 yes no Frequency/1000G 2 0.000000 0 0.542931 0.493200 0.478500 0.534700 0.572600 0.697400 transversion C G C>G 0.000 -0.279 255 PASS 0.46 0.55 0.67 0.55 0.56 0.49 0.54 0.7 0.53 0.57 0.48 . . . . . 0.33333334 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.2145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4571 . . . 0.19 0.45 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . 28994 0.446226 64976 26847 0.447554 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.152 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.67 rs7751376 rs7751376 rs7751376 rs7751376 1 1538 10 1/0 0,255,255 +rs9272448 6 32605439 A T - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605439 32605439 Chr6(GRCh37):g.32605439A>T 82+122 82+122 NM_002122.3:c.82+122A>T p.? p.? 1 1 146880 122 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 Cryptic Acceptor Strongly Activated 32605453 0.000392 64.5486 1.82915 0.001325 69.949 rs9272448 yes no Frequency/1000G 2 0.000000 0 0.244010 0.292700 0.174800 0.213300 0.248500 0.286700 transversion A T A>T 0.000 0.044 255 PASS 0.3 0.26 0.33 0.19 0.24 0.29 0.24 0.29 0.21 0.25 0.17 . . . . . 0.4090909 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.2419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2440 . . . 0.2 0.46 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . 5734 0.088248 64976 5337 0.0889708 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs9272448 rs9272448 rs9272448 rs9272448 1 1538 10 1/0 0,255,255 +. 6 32609368 A G - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32609368 32609368 Chr6(GRCh37):g.32609368A>G 331+33 331+33 NM_002122.3:c.331+33A>G p.? p.? 2 2 146880 33 5' 75.23 7.13539 0.864395 4.95315 75.23 7.13539 0.864395 5.08549 0 Cryptic Acceptor Strongly Activated 32609388 4.32362 0.255717 83.6345 4.94639 0.394962 83.6345 transition A G A>G 0.000 -0.602 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.0339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs36218696 rs36218696 . . 1 1538 10 1/0 0,242,255 +rs28383454 6 32609370 G T - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32609370 32609370 Chr6(GRCh37):g.32609370G>T 331+35 331+35 NM_002122.3:c.331+35G>T p.? p.? 2 2 146880 35 5' 75.23 7.13539 0.864395 4.95315 75.23 7.13539 0.864395 5.03887 0 Cryptic Acceptor Strongly Activated 32609388 4.32362 0.255717 83.6345 5.98736 0.294673 83.6345 rs28383454 yes no Frequency/1000G 2 0.000000 0 0.299321 0.248900 0.183000 0.286700 0.353900 0.498600 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 147032 10654 13548 5712 10308 21790 68928 12690 3402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 140 Exomes transversion G T G>T 0.000 -0.682 177 PASS . . . . . 0.25 0.3 0.5 0.29 0.35 0.18 . . . . . 0.10810811 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.1243 . . . . . . . . 4.128e-04 . . . 0 1.798e-05 0.0002 0 0 0 0 0 0 1.483e-05 0.0002 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.2993 . . . 0.2 0.34 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs9272816 6 32610621 C G - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32610621 32610621 Chr6(GRCh37):g.32610621C>G *20+60 *20+60 NM_002122.3:c.*20+60C>G p.? p.? 4 4 146880 60 5' 94.3644 X.71 0.976747 5.11242 94.3644 X.71 0.976747 5.62618 0 rs9272816 no no 0 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000104 0.000000 0.000000 0.000000 0.000000 0.000104 1 0 0 0 1 0 0 0 0 130460 8686 15502 5234 9650 18994 57214 12056 3124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 140 Exomes transversion C G C>G 0.000 -0.279 145 PASS . . . . . . . . . . . . . . . . 0.10489511 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.2461 . . . . . . . . . . . . 0 6.324e-05 0 0 0 4.68e-05 0 0.0002 0 5.271e-05 0 0 0 3.398e-05 0 0.0002 . . . . . . UTR3 UTR3 intronic . . . @ . . . 0.43 0.53 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 ENST00000374949:c.*80C>G uc003obt.1:c.*457C>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs9272816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.665e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . rs9272816 rs9272816 rs9272816 rs9272816 1 1538 10 1/0 0,212,255 +rs9272818 6 32610623 T C - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32610623 32610623 Chr6(GRCh37):g.32610623T>C *20+62 *20+62 NM_002122.3:c.*20+62T>C p.? p.? 4 4 146880 62 5' 94.3644 X.71 0.976747 5.11242 94.3644 X.71 0.976747 5.27749 0 rs9272818 yes no Frequency 1 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000104 0.000000 0.000000 0.000000 0.000000 0.000104 1 0 0 0 1 0 0 0 0 130972 8776 15410 5244 9644 18972 57604 12204 3118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 139 Exomes transition T C T>C 0.000 -1.247 179 PASS . . . . . . . . . . . . . . . . 0.11034483 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.0865 . . . . . . . . 1.581e-05 . . . 0 2.933e-05 0 0 0 6.608e-05 0 0 0 2.363e-05 0 0 0 4.566e-05 0 0 . . . . . . UTR3 UTR3 intronic . . . @ . . . 0.41 0.52 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 ENST00000374949:c.*82T>C uc003obt.1:c.*459T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.635e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs9272818 rs9272818 rs9272818 rs9272818 1 1538 10 1/0 0,211,255 +rs36203457 6 32628548 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32628548 32628548 Chr6(GRCh37):g.32628548A>G 796+88 796+88 NM_001243961.1:c.796+88T>C p.? p.? 5 5 604305 88 5' 82.2784 8.55262 0.927609 4.64344 82.2784 8.55262 0.927609 4.64344 0 rs36203457 yes no Frequency/1000G 2 0.000000 0 0.166933 0.186100 0.122700 0.173600 0.167000 0.183000 transition T C T>C 0.000 -2.297 255 PASS . . . . . 0.19 0.17 0.18 0.17 0.17 0.12 . . . . . 0.33333334 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . -0.2557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.1669 . . . 0.32 0.49 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 9656 0.148609 64976 9222 0.153736 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs36203457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs36203457 rs36203457 rs36203457 . 1 1538 10 1/0 0,255,255 +rs36203457 6 32628548 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32628548 32628548 Chr6(GRCh37):g.32628548A>G *42 *42 NR_133907.1:n.*42A>G p.? p.? 2 417 3' 0 0 0 0 0 0 0 0 0 rs36203457 yes no Frequency/1000G 2 0.000000 0 0.166933 0.186100 0.122700 0.173600 0.167000 0.183000 transition A G A>G 0.000 -2.297 255 PASS . . . . . 0.19 0.17 0.18 0.17 0.17 0.12 . . . . . 0.33333334 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . -0.2557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.1669 . . . 0.32 0.49 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 9656 0.148609 64976 9222 0.153736 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs36203457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs36203457 rs36203457 rs36203457 . 1 1538 10 1/0 0,255,255 +rs9273704 6 32629297 T C - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629297 32629297 Chr6(GRCh37):g.32629297T>C 662-63 662-63 NM_001243961.1:c.662-63A>G p.? p.? 4 3 604305 -63 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 4.03887 0 rs9273704 yes no Frequency/1000G 2 0.000000 0 0.560104 0.410000 0.689200 0.617100 0.514900 0.647000 transition A G A>G 0.000 -0.440 255 PASS 0.45 0.61 0.67 0.75 0.59 0.41 0.56 0.65 0.62 0.51 0.69 . . . . . 0.5375 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . 0.1524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.4399 . . . 0.23 0.3 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273704 0.217 0.246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs9273704 rs9273704 rs9273704 . 1 1538 10 1/0 0,255,255 +rs9273704 6 32629297 T C - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629297 32629297 Chr6(GRCh37):g.32629297T>C *791 *791 NR_133907.1:n.*791T>C p.? p.? 2 1166 3' 0 0 0 0 0 0 0 0 0 rs9273704 yes no Frequency/1000G 2 0.000000 0 0.560104 0.410000 0.689200 0.617100 0.514900 0.647000 transition T C T>C 0.000 -0.440 255 PASS 0.45 0.61 0.67 0.75 0.59 0.41 0.56 0.65 0.62 0.51 0.69 . . . . . 0.5375 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . 0.1524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.4399 . . . 0.23 0.3 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273704 0.217 0.246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs9273704 rs9273704 rs9273704 . 1 1538 10 1/0 0,255,255 +rs9273710 6 32629314 G A - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629314 32629314 Chr6(GRCh37):g.32629314G>A 662-80 662-80 NM_001243961.1:c.662-80C>T p.? p.? 4 3 604305 -80 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.47689 0 Cryptic Acceptor Weakly Activated 32629308 5.52509 0.676661 81.3257 6.04127 0.763241 83.429 rs9273710 yes no Frequency/1000G 2 0.000000 0 0.450080 0.398600 0.416200 0.418700 0.472200 0.609500 transition C T C>T 0.000 -3.023 255 PASS . . . . . 0.4 0.45 0.61 0.42 0.47 0.42 . . . . . 0.47887325 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . -0.5108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.4501 . . . 0.31 0.3 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273710 0.315 0.319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 rs9273710 rs9273710 rs9273710 rs9273710 1 1538 10 1/0 0,255,255 +rs9273710 6 32629314 G A - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629314 32629314 Chr6(GRCh37):g.32629314G>A *808 *808 NR_133907.1:n.*808G>A p.? p.? 2 1183 3' 0 0 0 0 0 0 0 0 0 rs9273710 yes no Frequency/1000G 2 0.000000 0 0.450080 0.398600 0.416200 0.418700 0.472200 0.609500 transition G A G>A 0.000 -3.023 255 PASS . . . . . 0.4 0.45 0.61 0.42 0.47 0.42 . . . . . 0.47887325 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . -0.5108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.4501 . . . 0.31 0.3 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273710 0.315 0.319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 rs9273710 rs9273710 rs9273710 rs9273710 1 1538 10 1/0 0,255,255 +rs41270897 6 32629316 G T - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629316 32629316 Chr6(GRCh37):g.32629316G>T 662-82 662-82 NM_001243961.1:c.662-82C>A p.? p.? 4 3 604305 -82 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.79871 0 rs41270897 yes no Frequency/1000G 2 0.000000 0 0.128994 0.128600 0.099200 0.140900 0.122300 0.164300 transversion C A C>A 0.000 -0.763 255 PASS . . . . . 0.13 0.13 0.16 0.14 0.12 0.099 . . . . . 0.44871795 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.0284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.1290 . . . 0.31 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 6172 0.0949889 64976 6069 0.101174 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs41270897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs41270897 rs41270897 rs41270897 . 1 1538 10 1/0 0,255,255 +rs41270897 6 32629316 G T - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629316 32629316 Chr6(GRCh37):g.32629316G>T *810 *810 NR_133907.1:n.*810G>T p.? p.? 2 1185 3' 0 0 0 0 0 0 0 0 0 rs41270897 yes no Frequency/1000G 2 0.000000 0 0.128994 0.128600 0.099200 0.140900 0.122300 0.164300 transversion G T G>T 0.000 -0.763 255 PASS . . . . . 0.13 0.13 0.16 0.14 0.12 0.099 . . . . . 0.44871795 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.0284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.1290 . . . 0.31 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 6172 0.0949889 64976 6069 0.101174 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs41270897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs41270897 rs41270897 rs41270897 . 1 1538 10 1/0 0,255,255 +rs9273713 6 32629320 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629320 32629320 Chr6(GRCh37):g.32629320A>G 662-86 662-86 NM_001243961.1:c.662-86T>C p.? p.? 4 3 604305 -86 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273713 yes no Frequency/1000G 2 0.000000 0 0.782748 0.674000 0.858900 0.871000 0.733600 0.825600 transition T C T>C 0.000 -0.924 255 PASS 0.68 0.79 0.85 0.85 0.77 0.67 0.78 0.83 0.87 0.73 0.86 . . . . . 0.46753246 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.1232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.2173 . . . 0.25 0.27 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273713 0.674 0.710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.85 rs9273713 rs9273713 rs9273713 rs9273713 1 1538 10 1/0 0,255,255 +rs9273713 6 32629320 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629320 32629320 Chr6(GRCh37):g.32629320A>G *814 *814 NR_133907.1:n.*814A>G p.? p.? 2 1189 3' 0 0 0 0 0 0 0 0 0 rs9273713 yes no Frequency/1000G 2 0.000000 0 0.782748 0.674000 0.858900 0.871000 0.733600 0.825600 transition A G A>G 0.000 -0.924 255 PASS 0.68 0.79 0.85 0.85 0.77 0.67 0.78 0.83 0.87 0.73 0.86 . . . . . 0.46753246 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.1232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.2173 . . . 0.25 0.27 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273713 0.674 0.710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.85 rs9273713 rs9273713 rs9273713 rs9273713 1 1538 10 1/0 0,255,255 +rs28724242 6 32629331 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629331 32629331 Chr6(GRCh37):g.32629331A>G 662-97 662-97 NM_001243961.1:c.662-97T>C p.? p.? 4 3 604305 -97 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs28724242 yes no Frequency/1000G 2 0.000000 0 0.341454 0.204200 0.380400 0.470200 0.276300 0.455300 transition T C T>C 0.000 -1.893 255 PASS . . . . . 0.2 0.34 0.46 0.47 0.28 0.38 . . . . . 0.41558442 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.3351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.3415 . . . 0.28 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 7062 0.108686 64976 6355 0.105941 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724242 0.130 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.13 rs28724242 rs28724242 rs28724242 rs28724242 1 1538 10 1/0 0,255,255 +rs28724242 6 32629331 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629331 32629331 Chr6(GRCh37):g.32629331A>G *825 *825 NR_133907.1:n.*825A>G p.? p.? 2 1200 3' 0 0 0 0 0 0 0 0 0 rs28724242 yes no Frequency/1000G 2 0.000000 0 0.341454 0.204200 0.380400 0.470200 0.276300 0.455300 transition A G A>G 0.000 -1.893 255 PASS . . . . . 0.2 0.34 0.46 0.47 0.28 0.38 . . . . . 0.41558442 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.3351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.3415 . . . 0.28 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 7062 0.108686 64976 6355 0.105941 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724242 0.130 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.13 rs28724242 rs28724242 rs28724242 rs28724242 1 1538 10 1/0 0,255,255 +rs9273721 6 32629341 C A - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629341 32629341 Chr6(GRCh37):g.32629341C>A 662-107 662-107 NM_001243961.1:c.662-107G>T p.? p.? 4 3 604305 -107 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273721 yes no Frequency/1000G 2 0.000000 0 transversion G T G>T 0.000 0.205 255 PASS 0.24 0.22 0.22 0.24 0.2 . . . . . . . . . . . 0.41666666 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . 0.0857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.22 0.31 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273721 0.130 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 rs9273721 rs9273721 rs9273721 rs9273721 1 1538 10 1/0 0,255,255 +rs9273721 6 32629341 C A - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629341 32629341 Chr6(GRCh37):g.32629341C>A *835 *835 NR_133907.1:n.*835C>A p.? p.? 2 1210 3' 0 0 0 0 0 0 0 0 0 rs9273721 yes no Frequency/1000G 2 0.000000 0 transversion C A C>A 0.000 0.205 255 PASS 0.24 0.22 0.22 0.24 0.2 . . . . . . . . . . . 0.41666666 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . 0.0857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.22 0.31 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273721 0.130 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 rs9273721 rs9273721 rs9273721 rs9273721 1 1538 10 1/0 0,255,255 +rs28724243 6 32629347 T C - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629347 32629347 Chr6(GRCh37):g.32629347T>C 662-113 662-113 NM_001243961.1:c.662-113A>G p.? p.? 4 3 604305 -113 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs28724243 yes no Frequency/1000G 2 0.000000 0 0.352037 0.215600 0.381400 0.489100 0.287300 0.465400 transition A G A>G 0.000 0.286 255 PASS . . . . . 0.22 0.35 0.47 0.49 0.29 0.38 . . . . . 0.43939394 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.2238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.3520 . . . 0.21 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 8146 0.125369 64976 7208 0.120161 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724243 0.261 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs28724243 rs28724243 rs28724243 . 1 1538 10 1/0 0,255,255 +rs28724243 6 32629347 T C - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629347 32629347 Chr6(GRCh37):g.32629347T>C *841 *841 NR_133907.1:n.*841T>C p.? p.? 2 1216 3' 0 0 0 0 0 0 0 0 0 rs28724243 yes no Frequency/1000G 2 0.000000 0 0.352037 0.215600 0.381400 0.489100 0.287300 0.465400 transition T C T>C 0.000 0.286 255 PASS . . . . . 0.22 0.35 0.47 0.49 0.29 0.38 . . . . . 0.43939394 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.2238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.3520 . . . 0.21 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 8146 0.125369 64976 7208 0.120161 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724243 0.261 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs28724243 rs28724243 rs28724243 . 1 1538 10 1/0 0,255,255 +. 6 32629368 A AG - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 duplication intron GRCh37 32629368 32629369 Chr6(GRCh37):g.32629369dup 662-135 662-135 NM_001243961.1:c.662-135dup p.? p.? 4 3 604305 -134 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs369571123 yes no Frequency/1000G 2 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.3773585 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28986211 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . . . 1 1538 10 1.I 0,12,42 +. 6 32629368 A AG - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 duplication downstream GRCh37 32629370 32629371 Chr6(GRCh37):g.32629370dup *864 *864 NR_133907.1:n.*864dup p.? p.? 2 1239 3' 0 0 0 0 0 0 0 0 0 rs369571123 yes no Frequency/1000G 2 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.3773585 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28986211 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . . . 1 1538 10 1.I 0,12,42 +rs9273742 6 32629380 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629380 32629380 Chr6(GRCh37):g.32629380A>G 662-146 662-146 NM_001243961.1:c.662-146T>C p.? p.? 4 3 604305 -146 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273742 yes no Frequency/1000G 2 0.000000 0 transition T C T>C 0.000 -3.588 255 PASS . . . . . . . . . . . . . . . . 0.37254903 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.7533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.27 0.34 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273742 0.478 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.48 . . rs9273742 . 1 1538 10 1/0 0,255,255 +rs9273742 6 32629380 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629380 32629380 Chr6(GRCh37):g.32629380A>G *874 *874 NR_133907.1:n.*874A>G p.? p.? 2 1249 3' 0 0 0 0 0 0 0 0 0 rs9273742 yes no Frequency/1000G 2 0.000000 0 transition A G A>G 0.000 -3.588 255 PASS . . . . . . . . . . . . . . . . 0.37254903 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.7533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.27 0.34 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273742 0.478 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.48 . . rs9273742 . 1 1538 10 1/0 0,255,255 +rs28724245 6 32629400 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629400 32629400 Chr6(GRCh37):g.32629400A>G 662-166 662-166 NM_001243961.1:c.662-166T>C p.? p.? 4 3 604305 -166 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs28724245 yes no Frequency/1000G 2 0.000000 0 0.318490 0.236800 0.239300 0.395800 0.312100 0.482700 transition T C T>C 0.000 -1.005 246 PASS . . . . . 0.24 0.32 0.48 0.4 0.31 0.24 . . . . . 0.2972973 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.0201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.3185 . . . 0.26 0.31 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*551T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724245 0.152 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . 0.15 rs28724245 rs28724245 rs28724245 . 1 1538 10 1/0 0,255,255 +rs28724245 6 32629400 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629400 32629400 Chr6(GRCh37):g.32629400A>G *894 *894 NR_133907.1:n.*894A>G p.? p.? 2 1269 3' 0 0 0 0 0 0 0 0 0 rs28724245 yes no Frequency/1000G 2 0.000000 0 0.318490 0.236800 0.239300 0.395800 0.312100 0.482700 transition A G A>G 0.000 -1.005 246 PASS . . . . . 0.24 0.32 0.48 0.4 0.31 0.24 . . . . . 0.2972973 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.0201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.3185 . . . 0.26 0.31 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*551T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724245 0.152 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . 0.15 rs28724245 rs28724245 rs28724245 . 1 1538 10 1/0 0,255,255 +rs9273754 6 32629409 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629409 32629409 Chr6(GRCh37):g.32629409A>G 662-175 662-175 NM_001243961.1:c.662-175T>C p.? p.? 4 3 604305 -175 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273754 yes no Frequency/1000G 2 0.000000 0 0.794529 0.690600 0.863000 0.881900 0.749500 0.834300 transition T C T>C 0.000 -0.763 251 PASS . . . . . 0.69 0.79 0.83 0.88 0.75 0.86 . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.0227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.2055 . . . 0.22 0.28 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*542T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273754 0.380 0.399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . 0.38 rs9273754 rs9273754 rs9273754 . 1 1538 10 1/0 0,255,255 +rs9273754 6 32629409 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629409 32629409 Chr6(GRCh37):g.32629409A>G *903 *903 NR_133907.1:n.*903A>G p.? p.? 2 1278 3' 0 0 0 0 0 0 0 0 0 Cryptic Donor Strongly Activated 32629404 0.007051 62.1291 8.34018 0.778003 74.2807 rs9273754 yes no Frequency/1000G 2 0.000000 0 0.794529 0.690600 0.863000 0.881900 0.749500 0.834300 transition A G A>G 0.000 -0.763 251 PASS . . . . . 0.69 0.79 0.83 0.88 0.75 0.86 . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.0227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.2055 . . . 0.22 0.28 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*542T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273754 0.380 0.399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . 0.38 rs9273754 rs9273754 rs9273754 . 1 1538 10 1/0 0,255,255 +rs9273764 6 32629425 G A - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629425 32629425 Chr6(GRCh37):g.32629425G>A 662-191 662-191 NM_001243961.1:c.662-191C>T p.? p.? 4 3 604305 -191 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273764 yes no Frequency/1000G 2 0.000000 0 0.151558 0.160400 0.102200 0.172600 0.149100 0.177200 transition C T C>T 0.000 -2.135 255 PASS 0.17 0.17 0.2 0.17 0.16 0.16 0.15 0.18 0.17 0.15 0.1 . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.3607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1516 . . . 0.36 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*526C>T . . . . 5589 0.0860164 64976 5087 0.0848031 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273764 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 rs9273764 rs9273764 rs9273764 . 1 1538 10 1/0 0,255,255 +rs9273764 6 32629425 G A - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629425 32629425 Chr6(GRCh37):g.32629425G>A *919 *919 NR_133907.1:n.*919G>A p.? p.? 2 1294 3' 0 0 0 0 0 0 0 0 0 rs9273764 yes no Frequency/1000G 2 0.000000 0 0.151558 0.160400 0.102200 0.172600 0.149100 0.177200 transition G A G>A 0.000 -2.135 255 PASS 0.17 0.17 0.2 0.17 0.16 0.16 0.15 0.18 0.17 0.15 0.1 . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.3607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1516 . . . 0.36 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*526C>T . . . . 5589 0.0860164 64976 5087 0.0848031 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273764 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 rs9273764 rs9273764 rs9273764 . 1 1538 10 1/0 0,255,255 +rs9273767 6 32629432 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629432 32629432 Chr6(GRCh37):g.32629432A>G 662-198 662-198 NM_001243961.1:c.662-198T>C p.? p.? 4 3 604305 -198 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273767 yes no Frequency/1000G 2 0.000000 0 0.499601 0.450800 0.432500 0.489100 0.531800 0.655600 transition T C T>C 0.000 -1.005 255 PASS . . . . . 0.45 0.5 0.66 0.49 0.53 0.43 . . . . . 0.3846154 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.0036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.4996 . . . 0.23 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*519T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273767 0.348 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.35 rs9273767 rs9273767 rs9273767 . 1 1538 10 1/0 0,255,255 +rs9273767 6 32629432 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629432 32629432 Chr6(GRCh37):g.32629432A>G *926 *926 NR_133907.1:n.*926A>G p.? p.? 2 1301 3' 0 0 0 0 0 0 0 0 0 rs9273767 yes no Frequency/1000G 2 0.000000 0 0.499601 0.450800 0.432500 0.489100 0.531800 0.655600 transition A G A>G 0.000 -1.005 255 PASS . . . . . 0.45 0.5 0.66 0.49 0.53 0.43 . . . . . 0.3846154 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.0036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.4996 . . . 0.23 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*519T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273767 0.348 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.35 rs9273767 rs9273767 rs9273767 . 1 1538 10 1/0 0,255,255 +rs9273772 6 32629438 T C - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629438 32629438 Chr6(GRCh37):g.32629438T>C 662-204 662-204 NM_001243961.1:c.662-204A>G p.? p.? 4 3 604305 -204 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273772 yes no Frequency/1000G 2 0.000000 0 0.497204 0.448600 0.432500 0.488100 0.527800 0.649900 transition A G A>G 0.000 -0.763 254 PASS . . . . . 0.45 0.5 0.65 0.49 0.53 0.43 . . . . . 0.33333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . -0.2087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.4972 . . . 0.25 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*513A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . rs9273772 rs9273772 rs9273772 . 1 1538 10 1/0 0,255,255 +rs9273772 6 32629438 T C - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629438 32629438 Chr6(GRCh37):g.32629438T>C *932 *932 NR_133907.1:n.*932T>C p.? p.? 2 1307 3' 0 0 0 0 0 0 0 0 0 rs9273772 yes no Frequency/1000G 2 0.000000 0 0.497204 0.448600 0.432500 0.488100 0.527800 0.649900 transition T C T>C 0.000 -0.763 254 PASS . . . . . 0.45 0.5 0.65 0.49 0.53 0.43 . . . . . 0.33333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . -0.2087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.4972 . . . 0.25 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*513A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . rs9273772 rs9273772 rs9273772 . 1 1538 10 1/0 0,255,255 +rs9273774 6 32629439 G A - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629439 32629439 Chr6(GRCh37):g.32629439G>A 662-205 662-205 NM_001243961.1:c.662-205C>T p.? p.? 4 3 604305 -205 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273774 no no 0 0.000000 0 transition C T C>T 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.3478261 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.1698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . @ . . . 0.27 0.21 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*512C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9273774 rs9273774 rs9273774 . 1 1538 10 1/0 0,255,255 +rs9273774 6 32629439 G A - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629439 32629439 Chr6(GRCh37):g.32629439G>A *933 *933 NR_133907.1:n.*933G>A p.? p.? 2 1308 3' 0 0 0 0 0 0 0 0 0 rs9273774 no no 0 0.000000 0 transition G A G>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.3478261 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.1698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . @ . . . 0.27 0.21 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*512C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9273774 rs9273774 rs9273774 . 1 1538 10 1/0 0,255,255 +rs9273777 6 32629443 T C - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629443 32629443 Chr6(GRCh37):g.32629443T>C 662-209 662-209 NM_001243961.1:c.662-209A>G p.? p.? 4 3 604305 -209 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273777 yes no Frequency/1000G 2 0.000000 0 0.802117 0.702000 0.869100 0.886900 0.760400 0.835700 transition A G A>G 0.000 -0.763 255 PASS . . . . . 0.7 0.8 0.84 0.89 0.76 0.87 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1979 . . . 0.21 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*508A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273777 0.630 0.681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9273777 rs9273777 rs9273777 . 1 1538 10 1/0 0,255,255 +rs9273777 6 32629443 T C - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629443 32629443 Chr6(GRCh37):g.32629443T>C *937 *937 NR_133907.1:n.*937T>C p.? p.? 2 1312 3' 0 0 0 0 0 0 0 0 0 rs9273777 yes no Frequency/1000G 2 0.000000 0 0.802117 0.702000 0.869100 0.886900 0.760400 0.835700 transition T C T>C 0.000 -0.763 255 PASS . . . . . 0.7 0.8 0.84 0.89 0.76 0.87 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1979 . . . 0.21 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*508A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273777 0.630 0.681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9273777 rs9273777 rs9273777 . 1 1538 10 1/0 0,255,255 +rs9273781 6 32629447 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629447 32629447 Chr6(GRCh37):g.32629447A>G 662-213 662-213 NM_001243961.1:c.662-213T>C p.? p.? 4 3 604305 -213 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273781 yes no Frequency/1000G 2 0.000000 0 0.803115 0.702700 0.869100 0.887900 0.762400 0.837200 transition T C T>C 0.000 -3.265 255 PASS . . . . . 0.7 0.8 0.84 0.89 0.76 0.87 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.5431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1969 . . . 0.28 0.28 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*504T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273781 0.652 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.65 rs9273781 rs9273781 rs9273781 rs9273781 1 1538 10 1/0 0,255,255 +rs9273781 6 32629447 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629447 32629447 Chr6(GRCh37):g.32629447A>G *941 *941 NR_133907.1:n.*941A>G p.? p.? 2 1316 3' 0 0 0 0 0 0 0 0 0 New Acceptor Site 32629448 5.63463 0.515365 91.1571 rs9273781 yes no Frequency/1000G 2 0.000000 0 0.803115 0.702700 0.869100 0.887900 0.762400 0.837200 transition A G A>G 0.000 -3.265 255 PASS . . . . . 0.7 0.8 0.84 0.89 0.76 0.87 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.5431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1969 . . . 0.28 0.28 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*504T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273781 0.652 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.65 rs9273781 rs9273781 rs9273781 rs9273781 1 1538 10 1/0 0,255,255 +rs41270899 6 32629450 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629450 32629450 Chr6(GRCh37):g.32629450A>G 662-216 662-216 NM_001243961.1:c.662-216T>C p.? p.? 4 3 604305 -216 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs41270899 yes no Frequency/1000G 2 0.000000 0 0.152157 0.162600 0.106300 0.169600 0.152100 0.171500 transition T C T>C 0.000 -0.117 255 PASS . . . . . 0.16 0.15 0.17 0.17 0.15 0.11 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . 0.1533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1522 . . . 0.23 0.27 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*501T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs41270899 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs41270899 rs41270899 rs41270899 . 1 1538 10 1/0 0,255,255 +rs41270899 6 32629450 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629450 32629450 Chr6(GRCh37):g.32629450A>G *944 *944 NR_133907.1:n.*944A>G p.? p.? 2 1319 3' 0 0 0 0 0 0 0 0 0 rs41270899 yes no Frequency/1000G 2 0.000000 0 0.152157 0.162600 0.106300 0.169600 0.152100 0.171500 transition A G A>G 0.000 -0.117 255 PASS . . . . . 0.16 0.15 0.17 0.17 0.15 0.11 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . 0.1533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1522 . . . 0.23 0.27 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*501T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs41270899 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs41270899 rs41270899 rs41270899 . 1 1538 10 1/0 0,255,255 +rs9274368 6 32632518 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32632518 32632518 Chr6(GRCh37):g.32632518A>G 379+57 379+57 NM_001243961.1:c.379+57T>C p.? p.? 2 2 604305 57 5' 86.8044 8.70331 0.959589 14.9522 86.8044 8.70331 0.959589 14.892 0 rs9274368 yes no Frequency/1000G 2 A 0.000000 0 0.414537 0.341100 0.345600 0.431500 0.433400 0.599400 transition T C T>C 0.000 -0.037 177 PASS 0.24 0.34 0.44 0.35 0.34 0.34 0.41 0.6 0.43 0.43 0.35 . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.0366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4145 . . . 0.26 0.49 182 ENSG00000179344 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs9274368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . 0.44 rs9274368 rs9274368 rs9274368 . 1 1538 10 1/0 0,255,255 +rs200236721 6 32714183 A G - HLA-DQA2 4943 Major histocompatibility complex, class II, DQ alpha 2 NM_020056.4 1 1152 768 NP_064440.1 P01906 substitution 3'UTR GRCh37 32714183 32714183 Chr6(GRCh37):g.32714183A>G *12 *12 NM_020056.4:c.*12A>G p.? p.? 4 613503 -9 5' 94.3644 X.71 0.982696 6.19444 94.3644 X.71 0.982696 6.06785 0 rs200236721 yes no Frequency 1 0.000000 0 0.000075 0.000314 0.000030 0.000101 0.000000 0.000000 0.000058 0.000079 0.000318 0.000314 20 7 1 1 0 0 7 2 2 266588 22316 33684 9900 18346 29986 120700 25360 6296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 7 1 1 0 0 7 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 0.205 222 PASS . . . . . . . . . . . . . . . . 0.15178572 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . -0.1378 . . . . . . . . 6.724e-03 . . . 0.0011 0.0058 0.0081 0.0070 0 0.0044 0 0.0170 0.0013 0.0053 0.0071 0.0144 0 0.0039 0 0.0171 . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.51 0.83 182 ENSG00000237541 HLA-DQA2 HLA-DQA2 ENST00000374940:c.*12A>G uc003obx.3:c.*12A>G NM_020056:c.*12A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200236721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0009 0.0007 0.0013 0.0035 0 0.0006 0.0005 0.0021 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs200236721 rs200236721 1 1538 10 1/0 0,255,255 +rs201822870 6 32714186 A T - HLA-DQA2 4943 Major histocompatibility complex, class II, DQ alpha 2 NM_020056.4 1 1152 768 NP_064440.1 P01906 substitution 3'UTR GRCh37 32714186 32714186 Chr6(GRCh37):g.32714186A>T *15 *15 NM_020056.4:c.*15A>T p.? p.? 4 613503 -6 5' 94.3644 X.71 0.982696 6.19444 94.3644 X.71 0.983948 6.28057 0.000424682 New Acceptor Site 32714192 0.52559 2,00E-06 65.6492 rs201822870 yes no Frequency 1 0.000000 0 0.000095 0.000316 0.000030 0.000103 0.000000 0.000000 0.000092 0.000119 0.000321 0.000316 25 7 1 1 0 0 11 3 2 264304 22184 33446 9744 18462 28972 120132 25138 6226 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 7 1 1 0 0 11 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.844 200 PASS . . . . . . . . . . . . . . . . 0.16037735 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 106.0 . . . . . . . . . . -0.3308 . . . . . . . . 1.558e-03 . . . 0.0004 0.0013 0.0011 0.0004 0 0.0011 0 0.0029 0.0005 0.0012 0.0009 0.0006 0 0.0011 0 0.0029 . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.52 0.85 182 ENSG00000237541 HLA-DQA2 HLA-DQA2 ENST00000374940:c.*15A>T uc003obx.3:c.*15A>T NM_020056:c.*15A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0009 0.0009 0.0013 0.0034 0 0.0009 0.0008 0.0022 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs201822870 rs201822870 1 1538 10 1/0 0,229,255 +rs758485154 6 32714219 A T - HLA-DQA2 4943 Major histocompatibility complex, class II, DQ alpha 2 NM_020056.4 1 1152 768 NP_064440.1 P01906 substitution intron GRCh37 32714219 32714219 Chr6(GRCh37):g.32714219A>T *20+28 *20+28 NM_020056.4:c.*20+28A>T p.? p.? 4 4 613503 28 5' 94.3644 X.71 0.982696 6.19444 94.3644 X.71 0.982696 6.15611 0 rs758485154 yes no Frequency 1 0.000000 0 0.000253 0.000868 0.000092 0.000102 0.000058 0.000000 0.000284 0.000288 0.000331 0.000868 65 18 3 1 1 0 33 7 2 257156 20728 32620 9836 17156 30250 116228 24292 6046 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 65 18 3 1 1 0 33 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 0.044 225 PASS . . . . . . . . . . . . . . . . 0.22857143 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.0259 . . . . . . . . 5.618e-04 . . . 0.0004 0.0005 0.0010 0.0009 0.0008 0.0003 0 0.0004 0.0005 0.0004 0.0010 0.0008 0.0006 0.0003 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000237541 HLA-DQA2 HLA-DQA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.264e-06 3.113e-05 0 0 0 0 0 0 0.0026 0.0028 0.0041 0.0042 0.0010 0.0029 0.0030 0.0027 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs777246915 6 32714222 T G - HLA-DQA2 4943 Major histocompatibility complex, class II, DQ alpha 2 NM_020056.4 1 1152 768 NP_064440.1 P01906 substitution intron GRCh37 32714222 32714222 Chr6(GRCh37):g.32714222T>G *20+31 *20+31 NM_020056.4:c.*20+31T>G p.? p.? 4 4 613503 31 5' 94.3644 X.71 0.982696 6.19444 94.3644 X.71 0.982696 VI.22 0 Cryptic Donor Weakly Activated 32714224 1.1297 0.01027 59.3191 1.20433 0.013048 60.3925 rs777246915 yes no Frequency 1 0.000000 0 0.000243 0.000764 0.000091 0.000101 0.000115 0.000000 0.000273 0.000287 0.000329 0.000764 63 16 3 1 2 0 32 7 2 259128 20954 32926 9880 17438 30298 117128 24426 6078 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 16 3 1 2 0 32 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -0.198 228 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.0542 . . . . . . . . 5.839e-04 . . . 0.0003 0.0005 0.0014 0.0012 0.0012 0.0003 0 0.0003 0.0004 0.0005 0.0014 0.0010 0.0008 0.0003 0 0.0003 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000237541 HLA-DQA2 HLA-DQA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.241e-06 3.087e-05 0 0 0 0 0 0 0.0023 0.0027 0.0038 0.0041 0.0019 0.0028 0.0028 0.0027 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs531738 6 33231191 C G - VPS52 10518 Vacuolar protein sorting 52 homolog (S. cerevisiae) NM_022553.5 -1 3031 2172 NP_072047.4 Q8N1B4 substitution intron GRCh37 33231191 33231191 Chr6(GRCh37):g.33231191C>G 1794+70 1794+70 NM_022553.5:c.1794+70G>C p.? p.? 17 17 603443 70 5' 84.9006 9.46092 0.947069 7.70378 84.9006 9.46092 0.947069 VII.97 0 rs531738 no no 0 C 0.000000 0 transversion G C G>C 0.488 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.61538464 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.4704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.1 182 ENSG00000223501 VPS52 VPS52 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531738 0.087 0.123 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs28550670 rs28550670 rs28550670 rs28550670 1 1538 10 1/0 0,255,255 +. 6 33231191 C CACACACACACACACAG - VPS52 10518 Vacuolar protein sorting 52 homolog (S. cerevisiae) NM_022553.5 -1 3031 2172 NP_072047.4 Q8N1B4 insertion intron GRCh37 33231191 33231192 Chr6(GRCh37):g.33231191_33231192insACACACACACACACAG 1794+69 1794+70 NM_022553.5:c.1794+69_1794+70insCTGTGTGTGTGTGTGT p.? p.? 17 17 603443 69 5' 84.9006 9.46092 0.947069 7.70378 84.9006 9.46092 0.947069 VII.97 0 rs371111517 no no 0 0.000000 0 CTGTGTGTGTGTGTGT 255 Pass . . . . . . . . . . . . . . . . 0.24 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000223501 VPS52 VPS52 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142124369 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,62 +rs561114462 6 33272631 C T - TAPBP 11566 TAP binding protein (tapasin) NM_172208.2 -1 2003 1515 NP_757345.2 substitution intron GRCh37 33272631 33272631 Chr6(GRCh37):g.33272631C>T 868+135 868+135 NM_172208.2:c.868+135G>A p.? p.? 4 4 601962 135 5' 74.2807 8.34018 0.793527 5.92762 74.2807 8.34018 0.793527 5.92762 0 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.1872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . 0.0002 . . . . . . ENSG00000231925 TAPBP TAPBP . uc003ody.3:c.*103G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs45521935 6 33359736 C G - KIFC1 6389 Kinesin family member C1 NM_002263.3 1 2706 2022 NP_002254.2 Q9BW19 substitution 5'UTR GRCh37 33359736 33359736 Chr6(GRCh37):g.33359736C>G -27 -27 NM_002263.3:c.-27C>G p.? p.? 1 603763 -39 5' 95.6376 X.36 0.995365 15.6679 95.6376 X.36 0.995365 16.2845 0 rs45521935 yes no Frequency/1000G 2 C 0.000000 0 0.005591 0.000000 0.002000 0.003000 0.010900 0.017300 0.008434 0.001467 0.007475 0.006427 0.000159 0.004646 0.012086 0.008756 0.012298 0.012086 2324 35 257 65 3 143 1518 224 79 275562 23854 34382 10114 18832 30776 125598 25582 6424 0.000152 0.000084 0.000058 0.000198 0.000000 0.000065 0.000207 0.000235 0.000311 21 1 1 1 0 1 13 3 1 2282 33 255 63 3 141 1492 218 77 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8518 4395 12913 80 11 91 0.00930449 0.0024966 0.00699785 0.00930449 0.0024966 0.00699785 30 transversion C G C>G 0.000 1.255 255 PASS . 0.01 0.02 0.0035 0.01 . 0.0056 0.017 0.003 0.011 0.002 . . . . . 0.3690476 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 168.0 . . UTR_5_PRIME(MODIFIER||||KIFC1|mRNA|CODING|NM_002263.3|NM_002263.3.ex.1) 0.0025 0.007 0.0093 0.0025 0.007 0.0093 . 1.1320 . . . . . . . . 8.654e-03 . . . 0.0024 0.0075 0.0069 0.0005 0.0086 0.0110 0.0115 0.0044 0.0023 0.0087 0.0069 0.0004 0.0088 0.0125 0.0106 0.0044 . . . . . . UTR5 UTR5 UTR5 . . . 0.0056 . . . 0.55 0.55 182 ENSG00000237649 KIFC1 KIFC1 . . NM_002263:c.-27C>G . . . 625 0.00961894 64976 597 0.00995232 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45521935 . . . . . . . . . . . . . . . . . . . . . . . 0.006998 . . . . 3.III 0.0017 0.0085 0.0075 0.0063 0.0001 0.0088 0.0120 0.0132 0.0046 0.0011 0.0080 0.0060 0.0099 0.0006 0.0086 0.0127 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs45521935 rs45521935 rs45521935 rs45521935 1 1538 10 1/0 0,227,255 +rs142110898 6 33372689 C T - KIFC1 6389 Kinesin family member C1 NM_002263.3 1 2706 2022 NP_002254.2 Q9BW19 substitution missense exon GRCh37 33372689 33372689 Chr6(GRCh37):g.33372689C>T 817 817 NM_002263.3:c.817C>T p.Arg273Trp p.Arg273Trp 7 603763 61 3' 85.0442 7.71979 0.063054 9.66053 85.0442 7.71979 0.063054 9.16678 0 Cryptic Acceptor Strongly Activated 33372695 2.94293 0.014632 81.1899 3.94324 0.02197 83.2931 rs142110898 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.003800 0.001000 0.000000 0.001000 0.001400 0.002786 0.001835 0.001308 0.002867 0.000053 0.001820 0.004153 0.002096 0.002632 0.004153 771 44 45 29 1 56 525 54 17 276762 23974 34408 10116 18864 30764 126418 25760 6458 0.000029 0.000000 0.000058 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 4 0 1 0 0 0 3 0 0 763 44 43 29 1 56 519 54 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4396 12969 27 10 37 0.00313953 0.00226963 0.00284484 0.00313953 0.00226963 0.00284484 53 COSM6203365 Liver 0.000422 2371 transition C T C>T 0.094 0.609 R Arg CGG 0.207 W Trp TGG 1.000 273 -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 255 PASS 0.0041 0.0009 . . . 0.0038 0.0016 0.0014 . 0.001 0.001 ENSG00000237649:ENST00000428849:exon7:c.C817T:p.R273W . KIFC1:NM_002263:exon7:c.C817T:p.R273W . . 0.5607477 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.655 . @ . . . . . 1 0.295 . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R273W|KIFC1|mRNA|CODING|NM_002263.3|NM_002263.3.ex.7) 0.0023 0.0028 0.0031 0.0023 0.0028 0.0031 . -0.5309 -0.501 -0.531 c . . . . . 2.873e-03 . . . 0.0022 0.0024 0.0004 0 0.0029 0.0036 0.0043 0.0016 0.0021 0.0028 0.0004 0.0001 0.0026 0.0042 0.0044 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.783 . . exonic exonic exonic . . 0.370 0.0016 . . . 0.61 0.14 182 ENSG00000237649 KIFC1 KIFC1 . . . 1.000 0.454 . 207 0.00318579 64976 199 0.00331744 59986 Uncertain_significance . 0 . 0.151 . . . . D 0.688 0.063 . . 37 . 0.624 . . 0.603 . . . 0.871 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.648 . . 0 0 0 0 0 0 . 0.234 . . 0.154 . . . . . . 0 0.403 . . . . . 0.474 . 0.204 . HET 0.09 rs142110898 . . . . . . . 9.157509157509158E-4 0.0040650406504065045 0.0 0.0 0.0 11.1392 0.00214 ENST00000428849 4.II III.32 . 0.080000 Q9BW19 . . . 0.002845 . 0.337 . . III.32 0.0019 0.0028 0.0013 0.0026 5.799e-05 0.0020 0.0042 0.0029 0.0018 0.0017 0.0029 0.0012 0.0099 0 0.0029 0.0040 0.0010 . . 0.730 . 0.738 0.738000 . . 0.080000 . . 1.0E-255 0.408 0.260 . 0.132 0.162 . 0.276 . 0.176 0.738 -0.241 0.0041 . . rs142110898 rs142110898 1 1538 10 1/0 0,255,255 +rs765301553 6 33626839 C T - ITPR3 6182 Inositol 1,4,5-triphosphate receptor, type 3 NM_002224.3 1 9034 8016 NP_002215.2 Q14573 substitution synonymous exon GRCh37 33626839 33626839 Chr6(GRCh37):g.33626839C>T 570 570 NM_002224.3:c.570C>T p.Ala190= p.Ala190Ala 6 147267 42 3' 81.2741 8.82024 0.960424 XI.13 81.2741 8.82024 0.960424 XI.77 0 Inositol 1,4,5-trisphosphate/ryanodine receptor MIR motif rs765301553 yes no Frequency 1 C 0.000000 0 0.000072 0.000000 0.000000 0.000000 0.000053 0.000065 0.000126 0.000000 0.000155 0.000126 20 0 0 0 1 2 16 0 1 277104 24012 34408 10148 18864 30782 126638 25788 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 0 1 2 16 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.016 -2.216 A Ala GCC 0.403 A Ala GCT 0.263 190 255 PASS . . . . . . . . . . . . ITPR3:uc021ywr.1:exon6:c.C570T:p.A190A ITPR3:NM_002224:exon6:c.C570T:p.A190A . . 0.61290324 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A190|ITPR3|mRNA|CODING|NM_002224|NM_002224.ex.6) . . . . . . . -0.5999 . . . . . . . . 6.314e-05 . . . 0 6.635e-05 0 0 0 0.0001 0 0 0 4.709e-05 0 0 0 9.202e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000096433 ITPR3 ITPR3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs765301553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.905e-05 0 0 5.799e-05 0 0.0001 0.0002 6.497e-05 0 9.703e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62402705 6 34985558 C G - ANKS1A 20961 Ankyrin repeat and sterile alpha motif domain containing 1A NM_015245.2 1 6351 3405 NP_056060.2 Q92625 substitution missense exon GRCh37 34985558 34985558 Chr6(GRCh37):g.34985558C>G 1732 1732 NM_015245.2:c.1732C>G p.Arg578Gly p.Arg578Gly 11 608994 -279 5' 91.9265 X.44 0.997767 7.22344 91.9265 X.44 0.997767 7.22344 0 Cryptic Acceptor Weakly Activated 34985557 4.23633 0.001335 67.5544 4.49517 0.001489 67.5544 rs62402705 yes no Frequency/1000G 2 C 0.000000 0 0.006390 0.000000 0.021500 0.001000 0.008000 0.002900 0.006904 0.000710 0.003342 0.014892 0.000583 0.020695 0.007071 0.001514 0.007278 0.020695 1911 17 115 151 11 637 894 39 47 276806 23958 34414 10140 18860 30780 126434 25762 6458 0.000130 0.000000 0.000000 0.000000 0.000000 0.000715 0.000111 0.000000 0.000000 18 0 0 0 0 11 7 0 0 1875 17 115 151 11 615 880 39 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4401 12941 60 5 65 0.00697674 0.00113482 0.00499769 0.00697674 0.00113482 0.00499769 71 transversion C G C>G 0.913 1.416 R Arg CGC 0.190 G Gly GGC 0.342 578 10 7 Chicken -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C25 42.81 86.56 Deleterious 0.02 IV.32 bad 6.76E-4 0.00156 255 PASS . 0.0027 . 0.0017 0.01 . 0.0064 0.0029 0.001 0.008 0.021 ENSG00000064999:ENST00000360359:exon11:c.C1732G:p.R578G ANKS1A:uc003ojx.4:exon11:c.C1732G:p.R578G ANKS1A:NM_015245:exon11:c.C1732G:p.R578G . . 0.5912409 . . @ 81 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.282 . @ . . . . . 1 0.628 . . 137.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R578G|ANKS1A|mRNA|CODING|NM_015245|NM_015245.ex.11) 0.0011 0.005 0.007 0.0011 0.005 0.007 . -0.2365 -0.104 -0.236 c . . . . . 6.717e-03 . . . 0.0010 0.0079 0.0025 0.0009 0.0021 0.0077 0.0113 0.0199 0.0009 0.0069 0.0025 0.0005 0.0018 0.0064 0.0072 0.0199 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.382 . . exonic exonic exonic . . 0.520 0.0064 . . . 0.6 0.39 182 ENSG00000064999 ANKS1A ANKS1A . . . 1.000 0.747 . 377 0.00580214 64976 345 0.00575134 59986 Uncertain_significance . 0 . 0.224 . . . . . . . . . 37 . 0.151 . . 0.142 . . . 0.380 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 0 0 . 0.184 . . 0.218 . . . . . . 0 0.377 . . . . . 0.537 . 0.347 . HET 0.04 rs62402705 . . . . . . . 0.0027472527472527475 0.0 0.0 0.0017482517482517483 0.006596306068601583 XII.12 8.03E-4 ENST00000360359 V.29 IV.39 . 0.110000 Q92625 . . . 0.004998 . 0.502 . . IV.39 0.0007 0.0073 0.0033 0.0149 0.0006 0.0014 0.0072 0.0071 0.0207 0.0007 0.0038 0.0036 0.0132 0.0006 0.0020 0.0060 0.0081 . . 0.397 . 1.291 1.291000 . . 0.110000 . . 1.0E-255 1.000 0.715 . 0.090 0.013 . 0.453 . 0.062 1.291 -0.022 0.01 rs62402705 rs62402705 rs62402705 rs62402705 1 1538 10 1/0 0,250,255 +rs62404564 6 35088271 T C - TCP11 11658 T-complex 11, testis-specific NM_001093728.2 -1 1930 1551 NP_001087197.1 substitution missense exon GRCh37 35088271 35088271 Chr6(GRCh37):g.35088271T>C 907 907 NM_001093728.2:c.907A>G p.Met303Val p.Met303Val 7 186982 -66 5' 81.5358 8.23527 0.886887 5.83786 81.5358 8.23527 0.886887 V.16 0 T-complex 11 rs62404564 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.000000 0.014300 0.000000 0.004000 0.001400 0.004747 0.000583 0.002303 0.010475 0.000266 0.012508 0.005428 0.000467 0.004509 0.012508 1305 14 79 105 5 382 679 12 29 274938 23996 34308 10024 18830 30540 125094 25714 6432 0.000087 0.000000 0.000000 0.000000 0.000000 0.000655 0.000032 0.000000 0.000000 12 0 0 0 0 10 2 0 0 1281 14 79 105 5 362 675 12 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8548 4401 12949 52 5 57 0.00604651 0.00113482 0.00438259 0.00604651 0.00113482 0.00438259 107 COSM3994904 Kidney 0.000578 1729 transition A G A>G 0.157 0.125 M Met ATG 1.000 V Val GTG 0.468 303 12 7 Dog 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 235.10 0.00 Tolerated 0.29 III.56 255 PASS . 0.0014 . . 0.004 . 0.0038 0.0014 . 0.004 0.014 . . . . . 0.65384614 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.083 . @ . . . . . 1 0.054 . . 104.0 . . . 0.0011 0.0044 0.006 0.0011 0.0044 0.006 . -0.2732 -0.355 -0.273 c . . . . . 4.547e-03 . . . 0.0009 0.0053 0.0017 0.0004 0.0003 0.0058 0.0043 0.0127 0.0008 0.0046 0.0017 0.0001 0.0003 0.0048 0.0044 0.0127 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.111 . . exonic exonic exonic . . 0.207 0.0038 . . . 0.35 0.69 182 ENSG00000124678 TCP11 TCP11 . . . 0.000 0.053 . 268 0.0041246 64976 249 0.00415097 59986 Likely_benign . 0 . 0.216 . . . . . . . . . 37 . 0.236 . . 0.289 . . . 0.357 0.197 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.316 . . 0 0 0 0 0 0 . 0.202 . . 0.230 . . . . . . 0 0.027 . . . . . 0.104 . 0.293 . HET 0.19 rs62404564 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 IV.93 8.03E-4 ENST00000502480 5.III 1.III . 0.290000 . . . . 0.004383 . 0.156 . . . 0.0006 0.0050 0.0023 0.0106 0.0003 0.0005 0.0056 0.0044 0.0125 0.0006 0.0025 0.0024 0.0067 0 0.0006 0.0041 0.0051 . . 0.196 . 0.051 0.051000 . . 0.290000 . . 1.0E-255 0.000 0.063 . 0.452 0.791 . 0.129 . 0.807 0.051 0.991 0.006 rs62404564 rs62404564 rs62404564 rs62404564 1 1538 10 1/0 0,255,255 +rs17854741 6 35200637 T C - SCUBE3 13655 Signal peptide, CUB domain, EGF-like 3 NM_152753.3 1 7713 2982 NP_689966.2 Q8IX30 substitution synonymous exon GRCh37 35200637 35200637 Chr6(GRCh37):g.35200637T>C 480 480 NM_152753.3:c.480T>C p.Asn160= p.Asn160Asn 5 614708 11 3' 87.0277 XI.56 0.994094 13.4015 87.0277 XI.56 0.995387 13.6339 0.000433561 Epidermal growth factor-like rs17854741 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.000000 0.012300 0.000000 0.001000 0.000000 0.002493 0.000125 0.001685 0.008177 0.000212 0.009975 0.001705 0.000155 0.002474 0.009975 691 3 58 83 4 307 216 4 16 277202 24030 34418 10150 18868 30776 126704 25790 6466 0.000029 0.000000 0.000000 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 683 3 58 83 4 299 216 4 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4406 12988 18 0 18 0.00209302 0 0.00138398 0.00209302 0 0.00138398 108 transition T C T>C 1.000 0.770 N Asn AAT 0.464 N Asn AAC 0.536 160 255 PASS . 0.0005 . . 0.0013 . 0.0026 . . 0.001 0.012 . . . . . 0.4854369 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . 0.0014 0.0021 . 0.0014 0.0021 . 1.1733 . . . . . . . . 2.384e-03 . . . 0 0.0030 0.0009 0.0002 0.0003 0.0025 0.0028 0.0094 0 0.0026 0.0008 0.0001 0.0003 0.0019 0.0029 0.0094 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.3 0.32 182 ENSG00000146197 SCUBE3 SCUBE3 . . . . . . 95 0.00146208 64976 82 0.00136699 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17854741 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1939e1 0.001384 . . . . . 6.535e-05 0.0027 0.0017 0.0083 0.0002 0.0001 0.0017 0.0027 0.0100 0.0002 0.0009 0.0024 0.0033 0 0.0003 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0021 rs17854741 rs17854741 rs17854741 rs17854741 1 1538 10 1/0 0,255,255 +rs371400375 6 35965502 A G - SLC26A8 14468 Solute carrier family 26, member 8 NM_052961.3 -1 3434 2913 NP_443193.1 Q96RN1 substitution intron GRCh37 35965502 35965502 Chr6(GRCh37):g.35965502A>G 627+13 627+13 NM_052961.3:c.627+13T>C p.? p.? 5 5 608480 13 5' 84.5905 9.78584 0.953495 1.95701 84.5905 9.78584 0.953495 2.60284 0 rs371400375 yes no Frequency 1 A 0.000000 0 0.000224 0.000000 0.000438 0.000000 0.000000 0.000554 0.000230 0.000000 0.000155 0.000554 62 0 15 0 0 17 29 0 1 276190 24002 34268 10034 18850 30710 126184 25698 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 0 15 0 0 17 29 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 44 transition T C T>C 0.126 0.044 255 PASS . . . . . . . . . . . . . . . . 0.53125 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.5993 . . . . . . . . 2.526e-04 . . . 0.0001 0.0003 0.0005 0 0 0.0003 0 0.0006 0 0.0003 0.0006 0 0 0.0002 0 0.0006 . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.25 182 ENSG00000112053 SLC26A8 SLC26A8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371400375 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv528432 0.000154 . . . . . 0 0.0002 0.0004 0 0 0 0.0003 0.0002 0.0006 0 3.229e-05 0 0 0 0 6.663e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs371400375 rs371400375 1 1538 10 1/0 0,255,255 +rs534196253 6 36198528 G A - BRPF3 14256 Bromodomain and PHD finger containing, 3 NM_015695.2 1 6023 3618 NP_056510.2 Q9ULD4 substitution 3'UTR GRCh37 36198528 36198528 Chr6(GRCh37):g.36198528G>A *142 *142 NM_015695.2:c.*142G>A p.? p.? 13 616856 326 3' 88.849 9.69617 0.940813 4.17628 88.849 9.69617 0.940813 4.17628 0 rs534196253 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30948 8730 836 302 1620 0 14990 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.000 0.448 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . UTR_3_PRIME(MODIFIER||||BRPF3|mRNA|CODING|NM_015695|NM_015695.ex.13) . . . . . . . 0.4365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . . . . ENSG00000096070 BRPF3 BRPF3 . . NM_015695:c.*142G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs534196253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.64 . . . . . . . . . 0 3.231e-05 0 0 0 0 6.671e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201111148 6 36922508 G C - PI16 21245 Peptidase inhibitor 16 NM_153370.2 1 2190 1392 NP_699201.2 Q6UXB8 substitution 5'UTR GRCh37 36922508 36922508 Chr6(GRCh37):g.36922508G>C -29 -29 NM_153370.2:c.-29G>C p.? p.? 1 -200 5' 91.1822 11.0134 0.995339 XII.45 91.1822 11.0134 0.995339 XII.45 0 rs201111148 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000628 0.000128 0.000123 0.000000 0.000000 0.000000 0.001259 0.000239 0.000327 0.001259 165 3 4 0 0 0 150 6 2 262602 23464 32556 8994 18174 29066 119160 25072 6116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 165 3 4 0 0 0 150 6 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4393 12973 14 5 19 0.00162904 0.00113688 0.00146244 0.00162904 0.00113688 0.00146244 38 transversion G C G>C 0.008 -0.198 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.44 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0011 0.0015 0.0016 0.0011 0.0015 0.0016 . 0.5097 . . . . . . . . 6.158e-04 . . . 0.0003 0.0005 0 0 0 0.0010 0 0 0.0003 0.0007 0 0 0 0.0012 0 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0002 . . . 0.74 0.69 182 ENSG00000164530 PI16 PI16 ENST00000373674:c.-29G>C . . . . . 42 0.000646393 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201111148 . . . . . . . . . . . . . . . . . . . . . . . 0.001462 . . . . . 0.0002 0.0006 9.458e-05 0 0 0.0002 0.0012 0.0002 0 0 0.0009 0.0012 0 0 0.0003 0.0016 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0016 . . rs201111148 rs201111148 1 1538 10 1/0 0,255,255 +rs41272196 6 36930690 C G - PI16 21245 Peptidase inhibitor 16 NM_153370.2 1 2190 1392 NP_699201.2 Q6UXB8 substitution intron GRCh37 36930690 36930690 Chr6(GRCh37):g.36930690C>G 593-21 593-21 NM_153370.2:c.593-21C>G p.? p.? 5 4 -21 3' 83.5307 8.26622 0.947256 4.68097 83.5307 8.26622 0.899729 2.42826 -0.0167244 rs41272196 yes no Frequency/1000G 2 C 0.000000 0 0.009984 0.011300 0.003100 0.017900 0.007000 0.010100 0.007772 0.010911 0.013394 0.026575 0.004436 0.005105 0.006448 0.000933 0.017328 0.026575 2004 257 421 216 82 142 760 23 103 257862 23554 31432 8128 18484 27814 117858 24648 5944 0.000178 0.000340 0.000318 0.000738 0.000000 0.000000 0.000119 0.000000 0.001346 23 4 5 3 0 0 7 0 4 1958 249 411 210 82 142 746 23 95 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8562 4352 12914 38 54 92 0.0044186 0.012256 0.00707366 0.0044186 0.012256 0.00707366 33 transversion C G C>G 0.000 -1.812 255 PASS 0.01 0.01 0.01 0.03 0.004 0.011 0.01 0.01 0.018 0.007 0.0031 . . . . . 0.48051947 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . 0.012 0.0071 0.0044 0.012 0.0071 0.0044 . -0.1395 . . . . . . . . 7.973e-03 . . . 0.0124 0.0110 0.0173 0.0113 0.0019 0.0109 0.0277 0.0065 0.0119 0.0085 0.0167 0.0077 0.0014 0.0075 0.0282 0.0064 . . . . . . intronic intronic intronic . . . 0.0100 . . . 0.49 0.35 182 ENSG00000164530 PI16 PI16 . . . . . . 494 0.00760281 64976 444 0.00740173 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41272196 0.022 0.014 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv885815 0.007074 . . . . . 0.0109 0.0080 0.0131 0.0268 0.0048 0.0009 0.0068 0.0195 0.0051 0.0109 0.0064 0.0251 0.0199 0.0006 0.0014 0.0043 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 rs41272196 rs41272196 rs41272196 rs41272196 1 1538 10 1/0 0,255,255 +. 6 37138023 GCA G - PIM1 8986 Pim-1 proto-oncogene, serine/threonine kinase NM_001243186.1 1 2709 1215 NP_001230115.1 P11309 deletion 5'UTR GRCh37 37138024 37138025 Chr6(GRCh37):g.37138024_37138025del -55 -54 NM_001243186.1:c.-55_-54del p.? p.? 1 164960 -409 5' 81.3945 8.72199 0.961051 15.2703 81.3945 8.72199 0.961051 15.2703 0 GC 255 Pass . . . . . . . . . . . . . . . . 0.9583333 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000137193 PIM1 PIM1 ENST00000373509:c.-328_-327del- uc003onk.3:c.-328_-327del- . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs146454660 6 37523080 A C - MIR4462 41549 MicroRNA 4462 NR_039669.1 -1 58 0 substitution downstream GRCh37 37523080 37523080 Chr6(GRCh37):g.37523080A>C *61 *61 NR_039669.1:n.*61T>G p.? p.? 1 rs146454660 yes no Frequency/1000G 2 A 0.000000 0 0.003794 0.000000 0.001000 0.000000 0.015900 0.002900 0.005268 0.001032 0.013126 0.003311 0.000000 0.000000 0.006676 0.008872 0.011202 0.013126 163 9 11 1 0 0 100 31 11 30940 8722 838 302 1622 0 14980 3494 982 0.006135 0.000000 0.000000 0.000000 0.000000 0.000000 0.010000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 161 9 11 1 0 0 98 31 11 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion T G T>G 0.992 0.932 255 PASS . 0.01 0.0028 . 0.02 . 0.0038 0.0029 . 0.016 0.001 . . . . . 0.5 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . DOWNSTREAM(MODIFIER||||MIR4462|Non-coding_transcript|NON_CODING|NR_039669|) . . . . . . . I.90 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . 0.0038 . . . 0.38 0.68 182 ENSG00000263926 MIR4462 MIR4462 . . . . . . 596 0.00917262 64976 576 0.00960224 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146454660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.75 . . . . . . . . . 0.0010 0.0053 0.0131 0.0033 0 0.0089 0.0067 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs146454660 rs146454660 1 1538 10 1/0 0,255,255 +rs755603011 6 42074907 C T - C6orf132 21288 Chromosome 6 open reading frame 132 NM_001164446.2 -1 6742 3567 NP_001157918.1 Q5T0Z8 substitution missense exon GRCh37 42074907 42074907 Chr6(GRCh37):g.42074907C>T 743 743 NM_001164446.2:c.743G>A p.Arg248His p.Arg248His 4 415 3' 93.2313 13.6605 0.996533 17.2882 93.2313 13.6605 0.996533 17.2882 0 rs755603011 yes no Frequency 1 C 0.000000 0 0.000928 0.000214 0.001011 0.000000 0.000000 0.000981 0.001481 0.000000 0.000790 0.001481 82 3 11 0 0 6 60 0 2 88350 14000 10884 1698 8472 6118 40512 4134 2532 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000049 0.000000 0.000000 1 0 0 0 0 0 1 0 0 80 3 11 0 0 6 58 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -1.570 R Arg CGT 0.082 H His CAT 0.413 248 12 6 Platypus 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.35 III.93 255 PASS . . . . . . . . . . . ENSG00000188112:ENST00000341865:exon4:c.G743A:p.R248H C6orf132:uc003orw.2:exon4:c.G743A:p.R248H C6orf132:NM_001164446:exon4:c.G743A:p.R248H . . 0.38297874 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.075 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R248H|C6orf132|mRNA|CODING|NM_001164446|NM_001164446.ex.4) . . . . . . . -1.3338 -1.541 -1.334 c . . . . . 1.973e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.499 . . exonic exonic exonic . . 0.014 @ . . . . . . ENSG00000188112 C6orf132 C6orf132 . . . 1.000 0.489 . 7 0.000107732 64976 7 0.000116694 59986 Uncertain_significance . 0 . . . . . . T 0.180 0.007 . . 37 . 0.081 . . 0.285 . . . 0.103 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.260 . . . . . 0.186 . 0.088 . HET 0.22 rs755603011 . . . . . . . . . . . . V.93 . ENST00000341865 III.54 -7.09 . 0.160000 . . . . . . 0.027 . . . 0.0002 0.0009 0.0008 0 0 0 0.0015 0.0013 0.0010 0.0002 0.0009 0.0036 0 0 0 0.0015 0 . . 0.567 . -2.260 -2.260000 . . 0.160000 . . 1.0E-255 0.000 0.063 . 0.120 0.342 . 0.021 . 0.090 -2.260 -0.867 . . . . . 1 1538 10 1/0 0,255,255 +rs199675094 6 42585113 T C - UBR2 21289 Ubiquitin protein ligase E3 component n-recognin 2 NM_015255.2 1 7898 5268 NP_056070.1 Q8IWV8 substitution intron GRCh37 42585113 42585113 Chr6(GRCh37):g.42585113T>C 1281+37 1281+37 NM_015255.2:c.1281+37T>C p.? p.? 11 11 609134 37 5' 87.1266 10.0978 0.978018 9.15804 87.1266 10.0978 0.978018 9.20801 0 rs199675094 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000981 0.000042 0.000000 0.001678 0.000213 0.000846 0.000301 0.006882 0.001248 0.006882 271 1 0 17 4 26 38 177 8 276270 23970 34294 10130 18798 30742 126208 25720 6408 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 269 1 0 17 4 26 38 175 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 61 transition T C T>C 0.992 1.416 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.4025974 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.85 . . . . . . . . 8.210e-04 . . . 0 0.0006 0 0 0.0056 0.0005 0.0030 0.0008 0 0.0009 0 0.0004 0.0060 0.0006 0.0031 0.0008 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.59 0.18 182 ENSG00000024048 UBR2 UBR2 . . . . . . 39 0.000600222 64976 39 0.000650152 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199675094 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0 0.0010 0 0.0017 0.0002 0.0072 0.0002 0.0013 0.0008 0.0001 0.0010 0 0 0 0.0052 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs199675094 rs199675094 1 1538 10 1/0 0,255,255 +rs149479641 6 42848793 A G - RPL7L1 21370 Ribosomal protein L7 like 1 NM_198486.3 1 3806 768 NP_940888.3 substitution intron GRCh37 42848793 42848793 Chr6(GRCh37):g.42848793A>G 147+89 147+89 NM_198486.3:c.147+89A>G p.? p.? 2 2 617417 89 5' 79.5338 8.73433 0.629345 2.09845 79.5338 8.73433 0.629345 2.09845 0 rs149479641 yes no Frequency/1000G 2 A 0.000000 0 0.007388 0.001500 0.014300 0.000000 0.011900 0.013000 0.009787 0.002521 0.009547 0.026490 0.000000 0.000000 0.015465 0.006873 0.009202 0.026490 303 22 8 8 0 0 232 24 9 30960 8728 838 302 1620 0 15002 3492 978 0.003300 0.000000 0.000000 0.000000 0.000000 0.000000 0.004310 0.000000 0.000000 1 0 0 0 0 0 1 0 0 301 22 8 8 0 0 230 24 9 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -1.086 219 PASS 0.002 0.01 0.01 . 0.01 0.0015 0.0074 0.013 . 0.012 0.014 . . . . . 0.2173913 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . INTRON(MODIFIER||||RPL7L1|mRNA|CODING|NM_198486|) . . . . . . . -0.1098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.0074 . . . 0.2 0.12 182 ENSG00000146223 RPL7L1 RPL7L1 . uc003osr.1:c.-3661A>G . . . . 886 0.0136358 64976 849 0.0141533 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149479641 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830651 . . . . . . . . . . . . . . . 0.0025 0.0098 0.0095 0.0265 0 0.0069 0.0155 0.0092 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . 0.01 . . rs149479641 rs149479641 1 1538 10 1/0 0,255,255 +rs1150800 6 43494319 A G - POLR1C 20194 RNA polymerase I subunit C NM_203290.3 1 1353 1041 NP_976035.1 O15160 substitution downstream GRCh37 43494319 43494319 Chr6(GRCh37):g.43494319A>G *5281 *5281 NM_203290.3:c.*5281A>G p.? p.? 9 610060 5400 3' 84.464 7.35329 0.393488 6.20475 84.464 7.35329 0.393488 6.20475 0 New Acceptor Site 43494320 0.290803 0.003562 70.2257 rs1150800 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30963 8727 838 302 1622 0 15002 3492 980 30964 8728 838 302 1622 0 15002 3492 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15481 4363 419 151 811 0 7501 1746 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition A G A>G 0.000 -3.426 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||XPO5|mRNA|CODING|NM_020750|) . . . . . . . -0.6371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.46 0.08 182 . . XPO5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1150800 1.000 1.000 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv818414 . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1150800 rs1150800 rs1150800 rs1150800 1 1538 255 1.I 0,0,255 +rs1150800 6 43494319 A G - XPO5 17675 Exportin 5 NM_020750.2 -1 5364 3615 NP_065801.1 Q9HAV4 substitution intron GRCh37 43494319 43494319 Chr6(GRCh37):g.43494319A>G 2983+104 2983+104 NM_020750.2:c.2983+104T>C p.? p.? 27 27 607845 104 5' 90.7791 XI.65 0.996692 10.0954 90.7791 XI.65 0.996692 10.0954 0 rs1150800 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30963 8727 838 302 1622 0 15002 3492 980 30964 8728 838 302 1622 0 15002 3492 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15481 4363 419 151 811 0 7501 1746 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition T C T>C 0.000 -3.426 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||XPO5|mRNA|CODING|NM_020750|) . . . . . . . -0.6371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.46 0.08 182 . . XPO5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1150800 1.000 1.000 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv818414 . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1150800 rs1150800 rs1150800 rs1150800 1 1538 255 1.I 0,0,255 +rs144585896 6 46554836 C T - CYP39A1 17449 Cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593.4 -1 2444 1410 NP_057677.2 Q9NYL5 substitution missense exon GRCh37 46554836 46554836 Chr6(GRCh37):g.46554836C>T 1228 1228 NM_016593.4:c.1228G>A p.Gly410Arg p.Gly410Arg 10 605994 -23 5' 89.8108 8.67858 0.959818 2.22108 89.8108 8.67858 0.959818 2.08525 0 Cytochrome P450 Cytochrome P450, E-class, group IV Cytochrome P450, E-class, group I rs144585896 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.001943 0.000085 0.000646 0.000499 0.000000 0.000000 0.003586 0.001677 0.001725 0.003586 532 2 22 5 0 0 449 43 11 273800 23596 34044 10024 18762 30154 125204 25640 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 532 2 22 5 0 0 449 43 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4405 12982 23 1 24 0.00267442 0.000226963 0.0018453 0.00267442 0.000226963 0.0018453 68 COSM3715513 Upper aerodigestive tract 0.001608 1244 transition G A G>A 0.992 3.272 G Gly GGG 0.250 R Arg AGG 0.207 410 12 11 Zebrafish -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C15 206.04 124.98 Deleterious 0 III.42 255 PASS . 0.0005 . . 0.0013 . 0.0004 0.0014 . 0.001 . ENSG00000146233:ENST00000275016:exon10:c.G1228A:p.G410R . . . . 0.42105263 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.926 . @ . . . . . 1 0.988 . . 38.0 . . . 0.0002 0.0018 0.0027 0.0002 0.0018 0.0027 . 0.7470 0.676 0.747 c . . . . . 1.935e-03 . . . 0.0001 0.0014 0.0002 0 0.0010 0.0029 0 0 0.0001 0.0020 0.0002 0 0.0012 0.0036 0.0018 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.988 . . exonic exonic exonic . . 0.666 0.0004 . . . 0.61 0.36 182 ENSG00000146233 CYP39A1 CYP39A1 . . . 0.765 0.235 . 82 0.001262 64976 80 0.00133364 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.951 0.499 . . 37 . 0.992 . . 0.988 . . . 0.815 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.957 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.859 . 0.953 . HET 0 rs144585896 . . . . . . ID\x3dCOSM3715513\x3bOCCURENCE\x3d1(upper_aerodigestive_tract) 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 16.8854 2.68E-4 ENST00000275016 V.91 5.II . 0.000000 . . . . 0.001845 . 0.546 . . 5.II 0 0.0017 0.0006 0.0005 0 0.0016 0.0031 0.0009 0 0.0002 0.0039 0.0012 0 0 0.0020 0.0071 0.0061 . . 0.246 . 1.448 1.448000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.387 0.998 . 0.608 . 0.490 1.448 0.871 0.0027 . . rs144585896 rs144585896 1 1538 10 1/0 0,255,255 +rs141318879 6 55304355 C T - HMGCLL1 21359 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 NM_019036.2 -1 2561 1113 NP_061909.2 Q8TB92 substitution missense exon GRCh37 55304355 55304355 Chr6(GRCh37):g.55304355C>T 888 888 NM_019036.2:c.888G>A p.Met296Ile p.Met296Ile 9 3 3' 89.7881 9.90982 0.952009 4.67335 89.7881 9.45001 0.964426 4.02151 -0.0111188 New Acceptor Site 55304353 III.17 0.764896 Pyruvate carboxyltransferase rs141318879 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.001000 0.001400 0.002618 0.000459 0.002436 0.000099 0.000000 0.000559 0.004413 0.000971 0.004372 0.004413 721 11 83 1 0 17 556 25 28 275448 23966 34072 10068 18812 30406 125980 25740 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 721 11 83 1 0 17 556 25 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8169 3737 11906 31 1 32 0.00378049 0.000267523 0.00268052 0.00378049 0.000267523 0.00268052 85 transition G A G>A 1.000 4.322 M Met ATG 1.000 I Ile ATA 0.163 296 12 7 Zebrafish 2 1 2 0 0 5.VII 5.II 105 111 10 C0 163.31 0.00 Tolerated 0.4 III.69 good 8.023E-1 0.49 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0006 0.0014 . 0.001 . . . . . . 0.4057971 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.488 . @ . . . . . 1 0.465 . . 69.0 . . . 0.0003 0.0027 0.0038 0.0003 0.0027 0.0038 . 0.4000 0.477 0.400 c . . . . . 2.483e-03 . . . 0.0006 0.0024 0.0031 0 0.0005 0.0039 0.0043 0.0004 0.0007 0.0023 0.0032 0 0.0008 0.0035 0.0044 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.981 . . exonic exonic exonic . . 0.836 0.0006 . . . 0.32 0.48 182 ENSG00000146151 HMGCLL1 HMGCLL1 . . . 0.999 0.384 . 213 0.00327813 64976 209 0.00348415 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.912 0.312 . . 37 . 0.973 . . 0.974 . . . 0.885 0.506 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.649 . . 0 0 0 0 0 0 . 0.518 . . 0.464 . . . . . . 0 0.379 . . . . . 0.953 . 0.780 . HET 0.07 rs141318879 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0 0.0 0.0013192612137203166 19.5616 3.28E-4 . V.56 V.56 . 0.070000 . . . . 0.002681 . 0.948 . . V.56 0.0006 0.0026 0.0025 0.0001 0 0.0010 0.0044 0.0044 0.0006 0.0002 0.0026 0 0 0 0.0006 0.0048 0.0041 . . 0.133 . 2.621 2.621000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.848 . 0.439 2.621 0.868 0.0038 . . rs141318879 rs141318879 1 1538 10 1/0 0,255,255 +rs9382769 6 57372199 T C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57372199 57372199 Chr6(GRCh37):g.57372199T>C 694-89 694-89 NM_000947.4:c.694-89T>C p.? p.? 8 7 176636 -89 3' 78.0868 8.88591 0.990632 9.29888 78.0868 8.88591 0.990632 9.29888 0 rs9382769 no no 0 C 0.000000 0 transition T C T>C 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.7173913 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.0014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.29 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9382769 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs9382769 rs9382769 rs9382769 rs9382769 1 1538 10 1/0 0,255,255 +rs201525373 6 57372310 C T - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution missense exon GRCh37 57372310 57372310 Chr6(GRCh37):g.57372310C>T 716 716 NM_000947.4:c.716C>T p.Ala239Val p.Ala239Val 8 176636 23 3' 78.0868 8.88591 0.990632 9.29888 78.0868 8.88591 0.990632 8.80836 0 rs201525373 yes no Frequency 1 C 0.000000 0 0.000907 0.000042 0.000000 0.000000 0.000000 0.000000 0.000444 0.007649 0.001249 0.007649 249 1 0 0 0 0 56 184 8 274682 24020 34340 10148 18852 30782 126082 24054 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 249 1 0 0 0 0 56 184 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8290 3828 12118 2 0 2 0.000241196 0 0.000165017 0.000241196 0 0.000165017 125 COSM284244 Large intestine 0.000448 2231 transition C T C>T 0.992 3.272 A Ala GCT 0.263 V Val GTT 0.178 239 12 6 Zebrafish 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 272.33 0.00 Tolerated 0.36 II.99 205 PASS . . . . . . . . . . . ENSG00000146143:ENST00000607273:exon8:c.C716T:p.A239V PRIM2:uc003pdx.3:exon8:c.C716T:p.A239V UNKNOWN . . 0.1724138 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.478 . @ . . . . . 1 0.172 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A239V|PRIM2|mRNA|CODING|NM_000947|NM_000947.ex.8) . 0.0002 0.0002 . 0.0002 0.0002 . I.53 0.185 1.715 n . . . . . 3.989e-03 . . . 0 0.0021 8.715e-05 0 0.0341 0.0014 0.0028 0 0 0.0036 8.99e-05 0 0.0363 0.0025 0.0087 0 nonsynonymous_SNV nonsynonymous_SNV unknown . . . exonic exonic exonic . . 0.779 @ . . . 0.68 0.67 182 ENSG00000146143 PRIM2 PRIM2 . . . 1.000 0.747 . 35 0.00053866 64976 35 0.000583469 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.174 . . 0.145 . . . . . . 0 . . . . . . 0.711 . 0.218 . HET 0.5 rs201525373 . . . . . . ID\x3dCOSM284244\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . 0.000165 . 0.467 . . 5.IV 0 0.0008 0 0 0 0.0074 0.0003 0.0011 0 0.0001 0.0019 0 0 0 0.0095 0.0017 0.0021 . . 0.038 . . . . . . . . 1.0E-205 0.989 0.365 . 0.750 0.997 . 0.528 . 0.312 . 0.871 0.0002 . . rs201525373 rs201525373 1 1538 10 1/0 0,255,255 +rs75725892 6 57393054 G A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57393054 57393054 Chr6(GRCh37):g.57393054G>A 762-58 762-58 NM_000947.4:c.762-58G>A p.? p.? 9 8 176636 -58 3' 82.9416 7.69789 0.972735 6.25578 82.9416 7.69789 0.972735 6.16465 0 Cryptic Acceptor Weakly Activated 57393058 6.29567 0.012182 80.9762 6.69708 0.030866 80.9762 rs75725892 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.002300 0.001000 0.000000 0.000000 0.004300 transition G A G>A 0.205 0.367 255 PASS . . . . . 0.0023 0.0014 0.0043 . . 0.001 . . . . . 0.59090906 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.7901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.57 0.2 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75725892 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs75725892 rs75725892 1 1538 10 1/0 0,255,255 +rs493737 6 57415161 T G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415161 57415161 Chr6(GRCh37):g.57415161T>G 1020+16844 1020+16844 NM_000947.4:c.1020+16844T>G p.? p.? 10 10 176636 16844 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 rs493737 no no 0 G 0.000000 0 transversion T G T>G 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.66129035 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.3931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.32 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs493737 0.511 0.507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.51 rs493737 rs493737 rs493737 rs493737 1 1538 10 1/0 0,255,255 +rs496135 6 57415173 G A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415173 57415173 Chr6(GRCh37):g.57415173G>A 1020+16856 1020+16856 NM_000947.4:c.1020+16856G>A p.? p.? 10 10 176636 16856 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 rs496135 yes no Frequency/1000G 2 G 0.000000 0 0.003994 0.012900 0.000000 0.000000 0.002000 0.001400 transition G A G>A 0.000 0.044 234 PASS . . . . . 0.013 0.004 0.0014 . 0.002 . . . . . . 0.25675675 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.0850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.47 0.24 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs496135 0.272 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.27 rs496135 rs496135 rs496135 rs496135 1 1538 10 1/0 0,253,255 +rs7741129 6 57415223 A T - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415223 57415223 Chr6(GRCh37):g.57415223A>T 1020+16906 1020+16906 NM_000947.4:c.1020+16906A>T p.? p.? 10 10 176636 16906 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 Cryptic Acceptor Strongly Activated 57415230 0.384488 0.301009 6.29587 0.811627 74.2572 rs7741129 no no 0 A 0.000000 0 transversion A T A>T 0.000 -0.198 235 PASS . . . . . . . . . . . . . . . . 0.26 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.0667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.33 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7741129 0.467 0.420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.47 rs7741129 rs7741129 rs7741129 rs7741129 1 1538 10 1/0 0,240,255 +rs7761558 6 57415231 T C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415231 57415231 Chr6(GRCh37):g.57415231T>C 1020+16914 1020+16914 NM_000947.4:c.1020+16914T>C p.? p.? 10 10 176636 16914 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 rs7761558 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.117 230 PASS . . . . . . . . . . . . . . . . 0.24242425 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.1512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.36 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7761558 0.467 0.413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . 0.47 rs7761558 rs7761558 rs7761558 rs7761558 1 1538 10 1/0 0,239,255 +rs7741689 6 57415309 G C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415309 57415309 Chr6(GRCh37):g.57415309G>C 1020+16992 1020+16992 NM_000947.4:c.1020+16992G>C p.? p.? 10 10 176636 16992 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 rs7741689 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.3439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.32 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7741689 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs7741689 rs7741689 rs7741689 rs7741689 1 1538 10 1/0 0,255,255 +. 6 57415349 G GA - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 duplication intron GRCh37 57415351 57415352 Chr6(GRCh37):g.57415351dup 1020+17034 1020+17034 NM_000947.4:c.1020+17034dup p.? p.? 10 10 176636 17034 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 Cryptic Acceptor Strongly Activated 57415368 2,00E-06 69.1904 0.0884966 3,00E-06 69.1904 rs11443745 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . . . . . 0.54 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11412269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs11443745 rs11443745 rs11443745 1 1538 10 1.I 0,12,27 +. 6 57433501 AAAAAAAG A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 deletion intron GRCh37 57433507 57433513 Chr6(GRCh37):g.57433507_57433513del 1021-33573 1021-33567 NM_000947.4:c.1021-33573_1021-33567del p.? p.? 11 10 176636 -33567 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs201029322 yes no Frequency/1000G 2 0.000000 0 0.360623 0.337400 0.376300 0.376000 0.376700 0.337200 AGAAAAA 255 Pass . . . . . 0.34 0.36 0.34 0.38 0.38 0.38 . . . . . 0.4177215 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201029322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201029322 rs201029322 1 1538 10 1.I 0,12,38 +rs518931 6 57433525 T G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57433525 57433525 Chr6(GRCh37):g.57433525T>G 1021-33555 1021-33555 NM_000947.4:c.1021-33555T>G p.? p.? 11 10 176636 -33555 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs518931 no no 0 T 0.000000 0 transversion T G T>G 0.000 -1.489 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.3474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.35 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs518931 0.228 0.232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . 0.23 rs518931 rs518931 rs518931 rs518931 1 1538 10 1/0 0,245,255 +rs562762 6 57433544 G A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57433544 57433544 Chr6(GRCh37):g.57433544G>A 1021-33536 1021-33536 NM_000947.4:c.1021-33536G>A p.? p.? 11 10 176636 -33536 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs562762 no no 0 G 0.000000 0 transition G A G>A 0.000 -1.005 230 PASS . . . . . . . . . . . . . . . . 0.24444444 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.0850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.31 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs562762 0.250 0.246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . 0.25 rs562762 rs562762 rs562762 rs562762 1 1538 10 1/0 0,244,255 +rs4110759 6 57457779 G C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457779 57457779 Chr6(GRCh37):g.57457779G>C 1021-9301 1021-9301 NM_000947.4:c.1021-9301G>C p.? p.? 11 10 176636 -9301 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 Cryptic Donor Weakly Activated 57457781 8.94615 0.983727 84.0719 10.0978 0.989618 87.1266 rs4110759 no no 0 G 0.000000 0 transversion G C G>C 0.043 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.6458333 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.5951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.32 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4110759 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs4110759 rs4110759 rs4110759 rs4110759 1 1538 10 1/0 0,255,255 +rs4110760 6 57457843 T G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457843 57457843 Chr6(GRCh37):g.57457843T>G 1021-9237 1021-9237 NM_000947.4:c.1021-9237T>G p.? p.? 11 10 176636 -9237 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs4110760 no no 0 T 0.000000 0 transversion T G T>G 0.142 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3508772 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.0480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.32 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4110760 0.141 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs4110760 rs4110760 rs4110760 rs4110760 1 1538 10 1/0 0,255,255 +rs2397945 6 57457947 A C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457947 57457947 Chr6(GRCh37):g.57457947A>C 1021-9133 1021-9133 NM_000947.4:c.1021-9133A>C p.? p.? 11 10 176636 -9133 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs2397945 no no 0 A 0.000000 0 transversion A C A>C 0.004 -1.489 242 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.6945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.2 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2397945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs2397945 rs2397945 rs2397945 rs2397945 1 1538 10 1/0 0,255,255 +rs2093718 6 57457960 A G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457960 57457960 Chr6(GRCh37):g.57457960A>G 1021-9120 1021-9120 NM_000947.4:c.1021-9120A>G p.? p.? 11 10 176636 -9120 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 New Donor Site 57457959 0.926018 0.006105 65.1373 rs2093718 no no 0 A 0.000000 0 transition A G A>G 0.004 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.44 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.6111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.21 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2093718 0.337 0.312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.34 rs2093718 rs2093718 rs2093718 rs2093718 1 1538 10 1/0 0,255,255 +rs74595165 6 57457973 C T - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457973 57457973 Chr6(GRCh37):g.57457973C>T 1021-9107 1021-9107 NM_000947.4:c.1021-9107C>T p.? p.? 11 10 176636 -9107 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs74595165 no no 0 C 0.000000 0 transition C T C>T 0.004 -0.924 240 PASS . . . . . . . . . . . . . . . . 0.27906978 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.6166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.21 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74595165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs74595165 rs74595165 1 1538 10 1/0 0,255,255 +rs4598061 6 57457974 T G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457974 57457974 Chr6(GRCh37):g.57457974T>G 1021-9106 1021-9106 NM_000947.4:c.1021-9106T>G p.? p.? 11 10 176636 -9106 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs4598061 no no 0 T 0.000000 0 transversion T G T>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.6363636 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.5588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.19 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4598061 0.380 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.38 rs4598061 rs4598061 rs4598061 rs4598061 1 1538 10 1/0 0,255,255 +rs6459263 6 57467279 T C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57467279 57467279 Chr6(GRCh37):g.57467279T>C 1147+73 1147+73 NM_000947.4:c.1147+73T>C p.? p.? 11 11 176636 73 5' 91.1822 11.0134 0.996488 5.39248 91.1822 11.0134 0.996488 5.43689 0 rs6459263 no no 0 T 0.000000 0 transition T C T>C 0.039 0.044 237 PASS . . . . . . . . . . . . . . . . 0.26506025 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.2765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.58 0.4 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6459263 0.293 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VIII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.29 rs6459263 rs6459263 rs6459263 rs6459263 1 1538 10 1/0 0,250,255 +rs6459264 6 57467282 T C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57467282 57467282 Chr6(GRCh37):g.57467282T>C 1147+76 1147+76 NM_000947.4:c.1147+76T>C p.? p.? 11 11 176636 76 5' 91.1822 11.0134 0.996488 5.39248 91.1822 11.0134 0.996488 5.30958 0 rs6459264 yes no Frequency/HapMap 2 T 0.000000 0 transition T C T>C 0.504 3.192 220 PASS . . . . . . . . . . . . . . . . 0.21518987 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.4708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.63 0.44 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6459264 0.293 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . IV.56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.29 rs6459264 rs6459264 rs6459264 rs6459264 1 1538 10 1/0 0,247,255 +rs62400219 6 57472495 C G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57472495 57472495 Chr6(GRCh37):g.57472495C>G 1230+54 1230+54 NM_000947.4:c.1230+54C>G p.? p.? 12 12 176636 54 5' 89.9194 X.02 0.989742 5.36853 89.9194 X.02 0.989742 5.38225 0 rs62400219 no no 0 C 0.000000 0 transversion C G C>G 0.000 -0.198 213 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.3136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.64 0.35 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62400219 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs62400219 rs62400219 rs62400219 rs62400219 1 1538 10 1/0 0,250,255 +rs3846934 6 57498894 G A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57498894 57498894 Chr6(GRCh37):g.57498894G>A 1231-73 1231-73 NM_000947.4:c.1231-73G>A p.? p.? 13 12 176636 -73 3' 80.7281 11.0509 0.9926 7.77276 80.7281 11.0509 0.9926 7.60412 0 Cryptic Donor Strongly Activated 57498896 3.19543 0.035013 65.2751 IV.62 0.138535 68.0232 rs3846934 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5882353 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.2541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.45 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3846934 0.457 0.457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs3846934 rs3846934 rs3846934 rs3846934 1 1538 10 1/0 0,255,255 +rs373701639 6 74138527 T C - MB21D1 21367 Mab-21 domain containing 1 NM_138441.2 -1 1802 1569 NP_612450.2 Q8N884 substitution synonymous exon GRCh37 74138527 74138527 Chr6(GRCh37):g.74138527T>C 1122 1122 NM_138441.2:c.1122A>G p.Thr374= p.Thr374Thr 4 613973 8 3' 74.962 2.14381 0.003757 II.99 74.962 2.14381 0.009654 2.41498 0.523201 Mab-21 domain rs373701639 yes no Frequency 1 T 0.000000 0 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000222 0.000000 0.000000 0.000222 28 0 0 0 0 0 28 0 0 273826 23926 33416 9974 18616 29990 125884 25658 6362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 0 0 0 0 0 28 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 72 transition A G A>G 1.000 0.286 T Thr ACA 0.280 T Thr ACG 0.116 374 255 PASS . . . . . . . . . . . . MB21D1:uc003pgx.1:exon4:c.A1122G:p.T374T MB21D1:NM_138441:exon4:c.A1122G:p.T374T . . 0.5405405 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T374|MB21D1|mRNA|CODING|NM_138441|NM_138441.ex.4) . 0.0002 0.0003 . 0.0002 0.0003 . 0.9533 . . . . . . . . 1.815e-04 . . . 0 0.0002 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.28 182 ENSG00000164430 MB21D1 MB21D1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373701639 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0001 0 0 0 0 0.0002 0 0 0 3.229e-05 0 0 0 0 6.661e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs373701639 rs373701639 1 1538 10 1/0 0,255,255 +rs201988277 6 75823017 G A - COL12A1 2188 Collagen, type XII, alpha 1 NM_004370.5 -1 11579 9192 NP_004361.3 Q99715 substitution missense exon GRCh37 75823017 75823017 Chr6(GRCh37):g.75823017G>A 7853 7853 NM_004370.5:c.7853C>T p.Thr2618Met p.Thr2618Met 51 120320 13 3' 82.1188 5.79762 0.320894 2.75649 82.1188 5.79762 0.347838 2.58106 0.0279885 Cryptic Acceptor Strongly Activated 75822997 5.33273 0.01023 76.1509 6.11476 0.016952 76.1509 Laminin G, thrombospondin-type, N-terminal rs201988277 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000321 0.000000 0.000000 0.000000 0.000000 0.000041 0.000433 0.000986 0.000556 0.000986 76 0 0 0 0 1 49 23 3 236786 20838 25546 9288 15086 24134 113180 23322 5392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 0 0 0 0 1 49 23 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8108 3632 11740 4 0 4 0.000493097 0 0.000340599 0.000493097 0 0.000340599 75 RCV000487682.2 germline clinical testing VUS 1 not provided COSM451792|COSM451792 Large intestine|Haematopoietic and lymphoid tissue 0.000443|0.000826 2255|3634 transition C T C>T 0.984 2.788 T Thr ACG 0.116 M Met ATG 1.000 2618 15 14 Tetraodon -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 69.84 20.52 Deleterious 0.01 IV.32 bad 8.705E-4 0.001181 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.6666667 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.676 . @ . . . . . 1 0.955 . . 33.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . 0.7973 0.798 0.797 c . . . . . 3.118e-04 . . . 0 0.0002 0 0 0.0008 0.0003 0 6.143e-05 0 0.0003 0 0 0.0012 0.0003 0 6.178e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.934 0.0002 . . . 0.54 0.38 182 ENSG00000111799 COL12A1 COL12A1 . . . 1.000 0.747 . 16 0.000246245 64976 15 0.000250058 59986 Uncertain_significance . 0 . 0.491 . . . . T 0.331 0.014 . . 37 . 0.275 . . 0.161 . . . 0.654 0.332 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.779 . . 0 0 0 0 0 0 . 0.715 . . 0.611 . . . . . . 0 0.784 . . . . . 0.473 . 0.573 . HET 0 rs201988277 . . . . . . . . . . . . 11.1095 0.0 . V.84 V.84 . 0.000000 . . . Name\x3dnsv830697 0.000341 . 0.629 . . V.84 0 0.0003 0 0 0 0.0010 0.0004 0.0007 4.144e-05 0 0.0004 0 0 0 0.0012 0.0005 0 . . 0.609 . 2.748 2.748000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.458 0.997 . 0.720 . 0.538 2.748 0.897 0.0005 . . rs201988277 rs201988277 1 1538 10 1/0 0,255,255 +rs79275696 6 80720488 C A - TTK 12401 TTK protein kinase NM_003318.4 1 3010 2574 NP_003309.2 P33981 substitution intron GRCh37 80720488 80720488 Chr6(GRCh37):g.80720488C>A 470-43 470-43 NM_003318.4:c.470-43C>A p.? p.? 5 4 604092 -43 3' 88.86 8.47486 0.977408 8.09825 88.86 8.47486 0.977408 8.18075 0 rs79275696 yes no Frequency/1000G 2 T 0.000000 0 0.672125 0.712600 0.625800 0.701400 0.559600 0.781000 transversion C A C>A 0.000 -0.279 255 PASS . . . . . 0.71 0.67 0.78 0.7 0.56 0.63 . . . . . 0.3888889 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . -0.3056 . . . . . . . . 4.488e-05 . . . 0 7.888e-05 0 0 0 0.0001 0 0 0 6.273e-05 0 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . 0.3279 . . . 0.25 0.06 182 ENSG00000112742 TTK TTK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79275696 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79275696 rs79275696 1 1538 10 1/0 0,255,255 +rs199796178 6 80720491 T A - TTK 12401 TTK protein kinase NM_003318.4 1 3010 2574 NP_003309.2 P33981 substitution intron GRCh37 80720491 80720491 Chr6(GRCh37):g.80720491T>A 470-40 470-40 NM_003318.4:c.470-40T>A p.? p.? 5 4 604092 -40 3' 88.86 8.47486 0.977408 8.09825 88.86 8.47486 0.977408 7.96599 0 80720494 -6.44385 rs199796178 yes no Frequency/1000G 2 A 0.000000 0 0.672125 0.712600 0.625800 0.701400 0.559600 0.781000 transversion T A T>A 0.000 -0.924 255 PASS . . . . . 0.71 0.67 0.78 0.7 0.56 0.63 . . . . . 0.35 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.4229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3279 . . . 0.22 0.1 182 ENSG00000112742 TTK TTK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199796178 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199796178 rs199796178 1 1538 10 1/0 0,255,255 +. 6 90577706 TGACATCTTTGCCCAG T - CASP8AP2 1510 Caspase 8 associated protein 2 ENST00000551025.3 1 6151 5916 ENSP00000478179 deletion in-frame exon GRCh37 90577707 90577721 Chr6(GRCh37):g.90577707_90577721del 4698 4712 ENST00000551025.3:c.4698_4712del p.Thr1567_1973delinsHisGlyLysGluAlaAspGluGlyProGluLysGluTyrIleSerCysGlnAsnThrValPheLysSerValGluGluLeuGluAsnSerAsnLysAsnValAspGlySerLysSerThrHisGluGluGlnSerSerMetIleGlnThrGlnValProAspIleTyrGluPheLeuLysAspAlaSerAspLysMetGlyHisSerAspGluValAlaAspGluCysPheLysLeuHisGlnValTrpGluThrLysValProGluSerIleGluGluLeuProSerMetGluGluIleSerHisSerValGlyGluHisLeuProAsnThrTyrValAspLeuThrLysAspProValThrGluThrLysAsnLeuGlyGluPheIleGluValThrValLeuHisIleAspGlnLeuGlyCysSerGlyGlyAsnLeuAsnGlnSerAlaGlnIleLeuAspAsnSerLeuGlnAlaAspThrValGlyAlaPheIleAspLeuThrGlnAspAlaSerSerGluAlaLysSerGluGlyAsnHisProAlaLeuAlaValGluAspLeuGlyCysGlyValIleGlnValAspGluAspAsnCysLysGluGluLysAlaGlnValAlaAsnArgProLeuLysCysIleValGluGluThrTyrIleAspLeuThrThrGluSerProSerSerCysGluValLysLysAspGluLeuLysSerGluProGlySerAsnCysAspAsnSerGluLeuProGlyThrLeuHisAsnSerHisLysLysArgArgAsnIleSerAspLeuAsnHisProHisLysLysGlnArgLysGluThrAspLeuThrAsnLysGluLysThrLysLysProThrGlnAspSerCysGluAsnThrGluAlaHisGlnLysLysAlaSerLysLysLysAlaProProValThrLysAspProSerSerLeuLysAlaThrProGlyIleLysAspSerSerAlaAlaLeuAlaThrSerThrSerLeuSerAlaLysAsnValIleLysLysLysGlyGluIleIleIleLeuTrpThrArgAsnAspAspArgGluIleLeuLeuGluCysGlnLysArgGlyProSerPheLysThrPheAlaTyrLeuAlaAlaLysLeuAspLysAsnProAsnGlnValThrThrGlnPheLeuHisLeu p.Thr1567_1973delinsHisGlyLysGluAlaAspGluGlyProGluLysGluTyrIleSerCysGlnAsnThrValPheLysSerValGluGluLeuGluAsnSerAsnLysAsnValAspGlySerLysSerThrHisGluGluGlnSerSerMetIleGlnThrGlnValProAspIleTyrGluPheLeuLysAspAlaSerAspLysMetGlyHisSerAspGluValAlaAspGluCysPheLysLeuHisGlnValTrpGluThrLysValProGluSerIleGluGluLeuProSerMetGluGluIleSerHisSerValGlyGluHisLeuProAsnThrTyrValAspLeuThrLysAspProValThrGluThrLysAsnLeuGlyGluPheIleGluValThrValLeuHisIleAspGlnLeuGlyCysSerGlyGlyAsnLeuAsnGlnSerAlaGlnIleLeuAspAsnSerLeuGlnAlaAspThrValGlyAlaPheIleAspLeuThrGlnAspAlaSerSerGluAlaLysSerGluGlyAsnHisProAlaLeuAlaValGluAspLeuGlyCysGlyValIleGlnValAspGluAspAsnCysLysGluGluLysAlaGlnValAlaAsnArgProLeuLysCysIleValGluGluThrTyrIleAspLeuThrThrGluSerProSerSerCysGluValLysLysAspGluLeuLysSerGluProGlySerAsnCysAspAsnSerGluLeuProGlyThrLeuHisAsnSerHisLysLysArgArgAsnIleSerAspLeuAsnHisProHisLysLysGlnArgLysGluThrAspLeuThrAsnLysGluLysThrLysLysProThrGlnAspSerCysGluAsnThrGluAlaHisGlnLysLysAlaSerLysLysLysAlaProProValThrLysAspProSerSerLeuLysAlaThrProGlyIleLysAspSerSerAlaAlaLeuAlaThrSerThrSerLeuSerAlaLysAsnValIleLysLysLysGlyGluIleIleIleLeuTrpThrArgAsnAspAspArgGluIleLeuLeuGluCysGlnLysArgGlyProSerPheLysThrPheAlaTyrLeuAlaAlaLysLeuAspLysAsnProAsnGlnValThrThrGlnPheLeuHisLeu 8 606880 -1081 5' 94.3644 X.71 0.998747 1.03022 94.3644 X.71 0.998747 1.03022 0 rs781114556 yes no Frequency 1 0.000000 0 GACATCTTTGCCCAG 255 Pass . . . . . . . . . . . . . . . . 0.35 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 40 . . . . . . . . . . . . . . . . . . . 3.202e-04 . . . 0.0001 0.0002 0 0 0.0005 0.0003 0 0 0.0001 0.0003 0 0 0.0003 0.0004 0.0015 0 . nonframeshift_deletion nonframeshift_deletion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000118412 CASP8AP2 CASP8AP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781114556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 6 90577725 TGGA T - CASP8AP2 1510 Caspase 8 associated protein 2 ENST00000551025.3 1 6151 5916 ENSP00000478179 deletion in-frame exon GRCh37 90577726 90577728 Chr6(GRCh37):g.90577726_90577728del 4717 4719 ENST00000551025.3:c.4717_4719del p.Gly1573_1973delinsLysGluAlaAspGluGlyProGluLysGluTyrIleSerCysGlnAsnThrValPheLysSerValGluGluLeuGluAsnSerAsnLysAsnValAspGlySerLysSerThrHisGluGluGlnSerSerMetIleGlnThrGlnValProAspIleTyrGluPheLeuLysAspAlaSerAspLysMetGlyHisSerAspGluValAlaAspGluCysPheLysLeuHisGlnValTrpGluThrLysValProGluSerIleGluGluLeuProSerMetGluGluIleSerHisSerValGlyGluHisLeuProAsnThrTyrValAspLeuThrLysAspProValThrGluThrLysAsnLeuGlyGluPheIleGluValThrValLeuHisIleAspGlnLeuGlyCysSerGlyGlyAsnLeuAsnGlnSerAlaGlnIleLeuAspAsnSerLeuGlnAlaAspThrValGlyAlaPheIleAspLeuThrGlnAspAlaSerSerGluAlaLysSerGluGlyAsnHisProAlaLeuAlaValGluAspLeuGlyCysGlyValIleGlnValAspGluAspAsnCysLysGluGluLysAlaGlnValAlaAsnArgProLeuLysCysIleValGluGluThrTyrIleAspLeuThrThrGluSerProSerSerCysGluValLysLysAspGluLeuLysSerGluProGlySerAsnCysAspAsnSerGluLeuProGlyThrLeuHisAsnSerHisLysLysArgArgAsnIleSerAspLeuAsnHisProHisLysLysGlnArgLysGluThrAspLeuThrAsnLysGluLysThrLysLysProThrGlnAspSerCysGluAsnThrGluAlaHisGlnLysLysAlaSerLysLysLysAlaProProValThrLysAspProSerSerLeuLysAlaThrProGlyIleLysAspSerSerAlaAlaLeuAlaThrSerThrSerLeuSerAlaLysAsnValIleLysLysLysGlyGluIleIleIleLeuTrpThrArgAsnAspAspArgGluIleLeuLeuGluCysGlnLysArgGlyProSerPheLysThrPheAlaTyrLeuAlaAlaLysLeuAspLysAsnProAsnGlnValThrThrGlnPheLeuHisLeu p.Gly1573_1973delinsLysGluAlaAspGluGlyProGluLysGluTyrIleSerCysGlnAsnThrValPheLysSerValGluGluLeuGluAsnSerAsnLysAsnValAspGlySerLysSerThrHisGluGluGlnSerSerMetIleGlnThrGlnValProAspIleTyrGluPheLeuLysAspAlaSerAspLysMetGlyHisSerAspGluValAlaAspGluCysPheLysLeuHisGlnValTrpGluThrLysValProGluSerIleGluGluLeuProSerMetGluGluIleSerHisSerValGlyGluHisLeuProAsnThrTyrValAspLeuThrLysAspProValThrGluThrLysAsnLeuGlyGluPheIleGluValThrValLeuHisIleAspGlnLeuGlyCysSerGlyGlyAsnLeuAsnGlnSerAlaGlnIleLeuAspAsnSerLeuGlnAlaAspThrValGlyAlaPheIleAspLeuThrGlnAspAlaSerSerGluAlaLysSerGluGlyAsnHisProAlaLeuAlaValGluAspLeuGlyCysGlyValIleGlnValAspGluAspAsnCysLysGluGluLysAlaGlnValAlaAsnArgProLeuLysCysIleValGluGluThrTyrIleAspLeuThrThrGluSerProSerSerCysGluValLysLysAspGluLeuLysSerGluProGlySerAsnCysAspAsnSerGluLeuProGlyThrLeuHisAsnSerHisLysLysArgArgAsnIleSerAspLeuAsnHisProHisLysLysGlnArgLysGluThrAspLeuThrAsnLysGluLysThrLysLysProThrGlnAspSerCysGluAsnThrGluAlaHisGlnLysLysAlaSerLysLysLysAlaProProValThrLysAspProSerSerLeuLysAlaThrProGlyIleLysAspSerSerAlaAlaLeuAlaThrSerThrSerLeuSerAlaLysAsnValIleLysLysLysGlyGluIleIleIleLeuTrpThrArgAsnAspAspArgGluIleLeuLeuGluCysGlnLysArgGlyProSerPheLysThrPheAlaTyrLeuAlaAlaLysLeuAspLysAsnProAsnGlnValThrThrGlnPheLeuHisLeu 8 606880 -1074 5' 94.3644 X.71 0.998747 1.03022 94.3644 X.71 0.998747 1.03022 0 rs779785481 yes no Frequency 1 0.000000 0 7538 3626 11164 300 20 320 0.0382751 0.00548546 0.0278649 0.0382751 0.00548546 0.0278649 152 GGA 255 Pass . . . . . . . . . . . . . . . . 0.3255814 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 43 . . . 0.0047 0.026 0.036 0.0055 0.028 0.038 . . . . . . . . . . 3.888e-04 . . . 0 2.69e-05 0 0 0 6.006e-05 0 0 0 3.442e-05 0 0 0 6.902e-05 0 0 . nonframeshift_deletion nonframeshift_deletion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000118412 CASP8AP2 CASP8AP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779785481 . . . . . . . . . . . . . . . . . . . . . . . 0.026380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.036 . . . . 1 1538 10 1.I 0,11,49 +. 6 105845817 A G - PREP 9358 Prolyl endopeptidase NM_002726.4 -1 2943 2133 NP_002717.3 P48147 substitution intron GRCh37 105845817 105845817 Chr6(GRCh37):g.105845817A>G 46-15 46-15 NM_002726.4:c.46-15T>C p.? p.? 2 1 600400 -15 3' 98.7131 XI.94 0.99688 X.68 98.7131 XI.73 0.997084 10.1456 -0.00866623 transition T C T>C 0.008 0.205 255 PASS . . . . . . . . . . . . . . . . 0.6756757 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||PREP|mRNA|CODING|NM_002726|) . . . . . . . 0.5854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000085377 PREP PREP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv886530 . . . . . II.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs532481588 6 108234718 A G - SEC63 21082 SEC63 homolog (S. cerevisiae) NM_007214.4 -1 6500 2283 NP_009145.1 Q9UGP8 substitution intron GRCh37 108234718 108234718 Chr6(GRCh37):g.108234718A>G 453-87 453-87 NM_007214.4:c.453-87T>C p.? p.? 5 4 608648 -87 3' 78.0534 6.16947 0.653437 3.35436 78.0534 6.16947 0.653437 3.35436 0 Cryptic Donor Strongly Activated 108234716 0.007627 61.6261 1.14389 0.012358 65.7541 rs532481588 yes no Frequency 1 A 0.000000 0 0.000355 0.000000 0.001193 0.000000 0.000000 0.000000 0.000666 0.000000 0.000000 0.001193 11 0 1 0 0 0 10 0 0 30968 8730 838 302 1620 0 15004 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition T C T>C 0.126 0.205 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||SEC63|mRNA|CODING|NM_007214|) . . . . . . . 0.3537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000025796 SEC63 SEC63 . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs532481588 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830765 . . . . . . . . . . . . . . . 0 0.0004 0.0012 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200185941 6 109560739 T A - C6orf183 21562 Chromosome 6 open reading frame 183 ENST00000453496.2 1 2469 0 substitution intron GRCh37 109560739 109560739 Chr6(GRCh37):g.109560739T>A 360+16 360+16 ENST00000453496.2:n.360+16T>A p.? p.? 2 2 16 5' 78.2933 4.74439 0.883696 0 78.2933 4.74439 0.883696 0 0 rs200185941 yes no Frequency 1 A 0.000000 0 0.008834 0.008335 0.007415 0.012853 0.001790 0.016093 0.008936 0.004510 0.009091 0.016093 544 80 42 30 8 102 252 15 15 61580 9598 5664 2334 4470 6338 28200 3326 1650 0.000162 0.000417 0.000000 0.000000 0.000000 0.000316 0.000142 0.000000 0.000000 5 2 0 0 0 1 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.7 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . INTRON(MODIFIER||||LOC100996634|mRNA|CODING|NM_001277339|) . . . . . . . -0.3695 . . . . . . . . . . . . 0.0042 0.0053 0 0 0 0.0025 0 0.0073 0 0.0046 0 0 0.0018 0.0029 0 0.0073 . . . . . . downstream intronic intronic . . . @ . . . 0.28 0.35 182 ENSG00000243587 LOC100996634 LOC100996634 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200185941 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527657 . . . . . . 0.0086 0.0091 0.0070 0.0125 0.0024 0.0039 0.0084 0.0102 0.0161 0.0082 0.0085 0.0122 0.0163 0.0006 0.0056 0.0096 0.0074 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200185941 rs200185941 1 1538 10 1/0 0,255,255 +rs140100447 6 109563273 A G - C6orf183 21562 Chromosome 6 open reading frame 183 ENST00000453496.2 1 2469 0 substitution intron GRCh37 109563273 109563273 Chr6(GRCh37):g.109563273A>G 361-109 361-109 ENST00000453496.2:n.361-109A>G p.? p.? 3 2 -109 3' 93.699 XI.68 0.99199 14.1189 93.699 XI.68 0.99199 14.1189 0 Cryptic Donor Strongly Activated 109563273 0.000541 52.2553 4.51798 0.035473 64.3913 rs140100447 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.004500 0.005100 0.000000 0.004000 0.002900 0.006229 0.005269 0.005967 0.013245 0.000000 0.000000 0.008324 0.002005 0.006110 0.013245 193 46 5 4 0 0 125 7 6 30982 8730 838 302 1622 0 15016 3492 982 0.010363 0.021739 0.000000 0.000000 0.000000 0.000000 0.008000 0.000000 0.000000 2 1 0 0 0 0 1 0 0 189 44 5 4 0 0 123 7 6 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition A G A>G 0.000 -0.198 255 PASS 0.01 0.0032 0.0028 . 0.0026 0.0045 0.0034 0.0029 . 0.004 0.0051 . . . . . 0.5675676 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||LOC100996634|mRNA|CODING|NM_001277339|) . . . . . . . 0.1368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intronic intronic . . . 0.0034 . . . 0.37 0.34 182 . LOC100996634 LOC100996634 dist\x3d2680\x3bdist\x3d46370 . . . . . 419 0.00644853 64976 402 0.00670156 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140100447 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527657 . . . . . . . . . . . . . . . 0.0053 0.0062 0.0060 0.0132 0 0.0020 0.0083 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs140100447 rs140100447 1 1538 10 1/0 0,255,255 +rs139751785 6 109627272 C T - CCDC162P 21565 Coiled-coil domain containing 162, pseudogene NR_028595.1 1 715 0 substitution exon GRCh37 109627272 109627272 Chr6(GRCh37):g.109627272C>T 433 433 NR_028595.1:n.433C>T 3 -44 5' 85.464 6.99123 0.918972 3.07946 85.464 6.99123 0.918972 2.47204 0 Cryptic Acceptor Strongly Activated 109627277 5.86654 0.84014 89.0822 7.192 0.89332 92.2037 rs139751785 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.003000 0.004100 0.000000 0.004000 0.002900 0.005606 0.002941 0.003944 0.005135 0.000000 0.007671 0.007654 0.002404 0.004493 0.007671 931 44 97 43 0 173 528 25 21 166074 14962 24592 8374 11538 22552 68984 10398 4674 0.000108 0.000134 0.000081 0.000000 0.000000 0.000266 0.000116 0.000000 0.000000 9 1 1 0 0 3 4 0 0 913 42 95 43 0 167 520 25 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.969 3.434 255 PASS 0.01 0.0027 0.0028 . 0.0026 0.003 0.0028 0.0029 . 0.004 0.0041 . CCDC162P:uc003ptb.1:exon4:c.C440T:p.S147L . . . 0.49425286 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H145Y|CCDC162P|Non-coding_transcript|NON_CODING|NR_028595|NR_028595.ex.3) . . . . . . . 1.1567 . . . . . . . . 5.190e-03 . . . 0.0035 0.0066 0 0 0 0.0065 0 0.0072 0 0.0060 0 0 0.0031 0.0063 0 0.0071 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0028 . . . 0.42 0.64 182 ENSG00000203799 CCDC162P CCDC162P . . . . . . 438 0.00674095 64976 424 0.00706832 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.37 rs139751785 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527719 . . . . . IV.24 0.0022 0.0056 0.0039 0.0050 0 0.0023 0.0075 0.0043 0.0077 0.0034 0.0056 0.0060 0.0099 0 0.0026 0.0081 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139751785 rs139751785 1 1538 10 1/0 0,255,255 +rs41288558 6 109768568 G T - MICAL1 20619 Microtubule associated monooxygenase, calponin and LIM domain containing 1 NM_001286613.1 -1 3681 3261 NP_001273542.1 substitution missense exon GRCh37 109768568 109768568 Chr6(GRCh37):g.109768568G>T 2119 2119 NM_001286613.1:c.2119C>A p.His707Asn p.His707Asn 16 607129 -9 5' 87.2541 7.65636 0.943355 XII.67 87.2541 7.65636 0.943355 12.1576 0 rs41288558 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008900 0.000000 0.006863 0.001083 0.000232 0.000197 0.000000 0.000000 0.007502 0.033913 0.006667 0.033913 1887 26 8 2 0 0 934 874 43 274940 24014 34416 10144 18868 30782 124494 25772 6450 0.000175 0.000000 0.000000 0.000000 0.000000 0.000000 0.000112 0.001319 0.000000 24 0 0 0 0 0 7 17 0 1839 26 8 2 0 0 920 840 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4394 12951 43 12 55 0.005 0.00272356 0.00422882 0.005 0.00272356 0.00422882 64 transversion C A C>A 0.000 0.044 H His CAC 0.587 N Asn AAC 0.536 707 12 9 Horse 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 353.86 0.00 Deleterious 0.04 4.IX 255 PASS . 0.0037 . . 0.01 . 0.0018 . . 0.0089 . . . . . . 0.41836736 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.117 . . 98.0 . . . 0.0027 0.0042 0.005 0.0027 0.0042 0.005 . -0.5390 -0.601 -0.539 c . . . . . 7.498e-03 . . . 0.0014 0.0039 8.657e-05 0 0.0376 0.0045 0.0056 0 0.0013 0.0075 8.922e-05 0 0.0355 0.0101 0.0073 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.488 . . exonic exonic exonic . . 0.199 0.0018 . . . 0.24 0.19 182 ENSG00000135596 MICAL1 MICAL1 . . . 1.000 0.480 . 465 0.00715649 64976 456 0.00760177 59986 Likely_benign . 0 . 0.049 . . . . . . . . . 37 . 0.071 . . 0.387 . . . 0.170 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.121 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.067 . . . . . 0.133 . 0.165 . HET 0.02 rs41288558 . . . . . . . 0.003663003663003663 0.0 0.0 0.0 0.010554089709762533 IV.14 0.002675 ENST00000433205 5.VII I.17 . 0.490000 . . . . 0.004229 . 0.224 . . . 0.0012 0.0067 0.0002 0.0002 0 0.0342 0.0075 0.0049 0 0.0008 0.0081 0 0 0 0.0321 0.0078 0.0163 . . 0.924 . 0.098 0.098000 . . 0.490000 . . 1.0E-255 0.000 0.063 . 0.362 0.007 . 0.192 . 0.551 0.098 0.917 0.01 rs41288558 rs41288558 rs41288558 rs41288558 1 1538 10 1/0 0,255,255 +rs200756021 6 118229057 G A - SLC35F1 21483 Solute carrier family 35, member F1 NM_001029858.3 1 4852 1227 NP_001025029.2 Q5T1Q4 substitution synonymous exon GRCh37 118229057 118229057 Chr6(GRCh37):g.118229057G>A 168 168 NM_001029858.3:c.168G>A p.Leu56= p.Leu56Leu 1 -6 5' 89.8591 9.60237 0.967726 23.156 89.8591 9.60237 0.97082 22.7458 0.00106573 Protein of unknown function DUF914, eukaryotic rs200756021 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.005861 0.000862 0.001173 0.007400 0.000000 0.001037 0.007310 0.016888 0.005126 0.016888 529 10 7 21 0 9 339 132 11 90254 11598 5970 2838 4832 8678 46376 7816 2146 0.000111 0.000000 0.000000 0.000000 0.000000 0.000230 0.000129 0.000256 0.000000 5 0 0 0 0 1 3 1 0 519 10 7 21 0 7 333 130 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 1.000 0.851 L Leu CTG 0.404 L Leu CTA 0.070 56 255 PASS . 0.0041 . . 0.01 . 0.001 . . 0.005 . ENSG00000196376:ENST00000360388:exon1:c.G168A:p.L56L SLC35F1:uc003pxx.4:exon1:c.G168A:p.L56L SLC35F1:NM_001029858:exon1:c.G168A:p.L56L . . 0.46153846 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 13.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L56|SLC35F1|mRNA|CODING|NM_001029858|NM_001029858.ex.1) . . . . . . . I.41 . . . . . . . . 3.536e-03 . . . 0.0014 0.0053 0.0011 0 0.0113 0.0107 0.0164 0.0008 0.0010 0.0061 0.0012 0 0.0178 0.0093 0.0128 0.0008 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.13 0.48 182 ENSG00000196376 SLC35F1 SLC35F1 . . . . . . 329 0.00506341 64976 324 0.00540126 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200756021 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522455 . . . . . III.51 0.0010 0.0062 0.0008 0.0075 0 0.0191 0.0077 0.0060 0.0010 0.0008 0.0052 0.0037 0.0066 0 0.0140 0.0064 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs200756021 rs200756021 1 1538 10 1/0 0,255,255 +rs767260337 6 119670001 C A - MAN1A1 6821 Mannosidase, alpha, class 1A, member 1 NM_005907.3 -1 5027 1962 NP_005898.2 P33908 substitution missense exon GRCh37 119670001 119670001 Chr6(GRCh37):g.119670001C>A 230 230 NM_005907.3:c.230G>T p.Ser77Ile p.Ser77Ile 2 604344 -374 5' 92.583 10.0326 0.993722 13.8301 92.583 10.0326 0.993722 13.8301 0 Cryptic Acceptor Strongly Activated 119669987 6.08149 0.797238 76.2783 9.06351 0.935932 79.3939 rs767260337 yes no Frequency 1 C 0.000000 0 0.000035 0.000000 0.000053 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000065 6 0 1 0 0 0 5 0 0 170752 13722 18738 7578 8506 20020 77144 21042 4002 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.890 -0.279 S Ser AGC 0.243 I Ile ATC 0.481 77 13 6 Zebrafish -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C0 353.86 0.00 Deleterious 0.02 III.56 255 PASS . . . . . . . . . . . . . MAN1A1:NM_005907:exon2:c.G230T:p.S77I . . 0.35955057 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.348 . @ . . . . . 1 0.342 . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aTc|S77I|MAN1A1|mRNA|CODING|NM_005907|NM_005907.ex.2) . . . . . . . -0.5168 -0.401 -0.517 c . . . . . 3.349e-05 . . . 0 9.051e-05 0 0 0 0.0002 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.725 . . exonic exonic exonic . . 0.138 @ . . . . . . ENSG00000111885 MAN1A1 MAN1A1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.231 . . . . D 0.952 0.506 . . 37 . 0.382 . . 0.310 . . . 0.065 0.235 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.051 . . 0 0 0 0 0 0 . 0.112 . . 0.104 . . . . . . 0 0.197 . . . . . 0.164 . 0.223 . HET 0.14 rs767260337 . . . . . . . . . . . . V.67 0.0 . IV.73 0.1 . . . . . . . . 0.474 . . . 0 3.567e-05 5.569e-05 0 0 0 6.429e-05 0 0 0 3.271e-05 0 0 0 0 6.701e-05 0 . . 0.080 . 0.070 0.070000 . . . . . 1.0E-255 0.992 0.373 . 0.199 0.599 . 0.236 . 0.063 0.070 -0.405 . . . . . 1 1538 10 1/0 0,255,255 +. 6 122777624 A C - SERINC1 13464 Serine incorporator 1 NM_020755.3 -1 3202 1362 NP_065806.1 Q9NRX5 substitution splice site GRCh37 122777624 122777624 Chr6(GRCh37):g.122777624A>C 371+2 371+2 NM_020755.3:c.371+2T>G p.? p.? 3 3 614548 2 5' 86.9112 X.85 0.996104 2.49849 0 0 0 0 -1 transversion T G T>G 1.000 5.129 255 PASS . . . . . . . . . . . . . . . . 0.5185185 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.645 . @ . . . . . 0 0.703 . . 54.0 . . . . . . . . . . 1.1679 1.020 1.168 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing splicing splicing . . 0.886 @ . . . . . . ENSG00000111897 SERINC1 SERINC1 ENST00000339697:exon3:c.371+2T>G uc003pyy.1:exon3:c.371+2T>G NM_020755:exon3:c.371+2T>G 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . 0.797 . . . HET . . . . . . . . . . . . . . 15.9735 . . 5.VII 5.VII . . . 1.0000 0.928 Name\x3ddgv2006e1 . . 0.963 . . 5.VII . . . . . . . . . . . . . . . . . . . 0.047 . 2.159 2.159000 . . . . . 1.0E-255 1.000 0.715 . 0.362 0.974 . 0.960 . 0.866 2.159 1.062 . . . . . 1 1538 10 1/0 0,255,255 +. 6 124759018 A AT - NKAIN2 16443 Na+/K+ transporting ATPase interacting 2 NM_001040214.2 1 3393 627 NP_001035304.1 Q5VXU1 duplication intron GRCh37 124759037 124759038 Chr6(GRCh37):g.124759037dup 273+82544 273+82544 NM_001040214.2:c.273+82544dup p.? p.? 3 3 609758 82544 5' 87.3006 8.82915 0.883779 0.653249 87.3006 8.82915 0.883779 0.653249 0 rs374033234 yes no Frequency 1 0.000000 0 T 255 Pass . . . . . . . . . . . . . . . . 0.2972973 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . . . . . . . . . . . . . . . . . . . . . 0.0339 0.1205 0.0851 0.0789 0 0.1164 0.0962 0.1355 0.0333 0.1310 0.0833 0.2619 0 0.1255 0.1136 0.1355 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000188580 NKAIN2 NKAIN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374033234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374033234 rs374033234 1 1538 10 1.I 0,10,53 +. 6 128324320 T C - PTPRK 9674 Protein tyrosine phosphatase, receptor type, K NM_001291981.1 -1 6153 4389 NP_001278910.1 substitution intron GRCh37 128324320 128324320 Chr6(GRCh37):g.128324320T>C 2530+22 2530+22 NM_001291981.1:c.2530+22A>G p.? p.? 16 16 602545 22 5' 86.4908 7.64824 0.928685 1.78097 86.4908 7.64824 0.928685 I.86 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 219092 12632 31994 9294 15836 27432 95692 21224 4988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 59 Exomes transition A G A>G 0.803 1.416 255 PASS . . . . . . . . . . . . . . . . 0.6571429 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.8127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000152894 PTPRK PTPRK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.564e-06 0 0 0 0 1.045e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs78650056 6 131571691 C A - AKAP7 377 A kinase (PRKA) anchor protein 7 NM_016377.3 1 2934 1047 NP_057461.2 Q9P0M2 substitution intron GRCh37 131571691 131571691 Chr6(GRCh37):g.131571691C>A 850+30743 850+30743 NM_016377.3:c.850+30743C>A p.? p.? 7 7 604693 30743 5' 82.9985 9.27414 0.983609 2.69839 82.9985 9.27414 0.983609 2.69839 0 rs78650056 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.000848 0.000125 0.000378 0.000000 0.000000 0.000000 0.001565 0.000620 0.000774 0.001565 235 3 13 0 0 0 198 16 5 276960 24034 34396 10142 18864 30776 126498 25790 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 235 3 13 0 0 0 198 16 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4405 12990 15 1 16 0.00174419 0.000226963 0.0012302 0.00174419 0.000226963 0.0012302 145 transversion C A C>A 0.008 0.690 255 PASS . 0.0014 . . 0.004 . 0.0008 . . 0.004 . . . . . . 0.40425533 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . 0.0002 0.0012 0.0017 0.0002 0.0012 0.0017 . 0.7507 . . . . . . . . 7.578e-04 . . . 0.0003 0.0008 0.0003 0 0.0005 0.0014 0 0 0.0003 0.0006 0.0004 0 0.0003 0.0011 0 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0008 . . . 0.59 0.67 182 ENSG00000118507 AKAP7 AKAP7 . . . . . . 62 0.000954198 64976 58 0.000966892 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78650056 . . . . . . . . . . . . . . . . . . . . . . . 0.001230 . . . . II.99 0.0002 0.0008 0.0004 0 0 0.0006 0.0016 0.0007 0 0 0.0009 0.0012 0 0 0.0009 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs78650056 rs78650056 1 1538 10 1/0 0,255,255 +. 6 132030242 G A - CTAGE9 37275 CTAGE family, member 9 NM_001145659.1 -1 2577 2334 NP_001139131.1 A4FU28 substitution missense exon GRCh37 132030242 132030242 Chr6(GRCh37):g.132030242G>A 1916 1916 NM_001145659.1:c.1916C>T p.Pro639Leu p.Pro639Leu 1 transition C T C>T 0.000 -14.080 P Pro CCA 0.274 L Leu CTA 0.070 639 22 13 Grenn anole -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0 III.50 unknown 0.0 0.0 180 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.C1916T:p.P639L CTAGE9:uc011ece.2:exon1:c.C1916T:p.P639L CTAGE9:NM_001145659:exon1:c.C1916T:p.P639L . . 0.11409396 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.436 . @ . . . . . 1 0.302 . . 149.0 . . . . . . . . . . 0.2192 -0.032 0.219 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . . @ . . . . . . ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.266 0.010 . . 37 . 0.508 . . 0.322 . . . 0.803 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.880 . . 0 0 0 0 0 0 . 0.764 . . 0.703 . . . . . . 2 0.477 . . . . . . . 0.056 . LowAF 0.05 . . . . . . . . . . . . . . . ENST00000314099 . . . 0.020000 A4FU28 . . . . . 0.153 . . . . . . . . . . . . . . . . . . . . . . 0.428 . . . . . 0.020000 . . 1.0E-180 1.000 0.715 . . . . 0.399 . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 6 132030242 G A - ENPP3 3358 Ectonucleotide pyrophosphatase/phosphodiesterase 3 NM_005021.4 1 3232 2628 NP_005012.2 O14638 substitution intron GRCh37 132030242 132030242 Chr6(GRCh37):g.132030242G>A 1413-9570 1413-9570 NM_005021.4:c.1413-9570G>A p.? p.? 16 15 602182 -9570 3' 93.8233 9.85716 0.997057 4.82691 93.8233 9.85716 0.997057 4.82691 0 New Acceptor Site 132030244 4.03889 0.033899 68.6731 transition G A G>A 0.000 -14.080 180 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.C1916T:p.P639L CTAGE9:uc011ece.2:exon1:c.C1916T:p.P639L CTAGE9:NM_001145659:exon1:c.C1916T:p.P639L . . 0.11409396 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.436 . @ . . . . . 1 0.302 . . 149.0 . . . . . . . . . . 0.2192 -0.032 0.219 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . . @ . . . . . . ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.266 0.010 . . 37 . 0.508 . . 0.322 . . . 0.803 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.880 . . 0 0 0 0 0 0 . 0.764 . . 0.703 . . . . . . 2 0.477 . . . . . . . 0.056 . LowAF 0.05 . . . . . . . . . . . . . . . ENST00000314099 . . . 0.020000 A4FU28 . . . . . 0.153 . . . . . . . . . . . . . . . . . . . . . . 0.428 . . . . . 0.020000 . . 1.0E-180 1.000 0.715 . . . . 0.399 . . . . . . . . . 1 1538 10 1/0 0,210,255 +rs2072311 6 132031695 C G - CTAGE9 37275 CTAGE family, member 9 NM_001145659.1 -1 2577 2334 NP_001139131.1 A4FU28 substitution missense exon GRCh37 132031695 132031695 Chr6(GRCh37):g.132031695C>G 463 463 NM_001145659.1:c.463G>C p.Glu155Gln p.Glu155Gln 1 rs2072311 no no 0 C 0.000000 0 transversion G C G>C 0.000 -14.080 E Glu GAA 0.417 Q Gln CAA 0.256 155 22 15 Grenn anole 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Tolerated 0.27 3.X good 4.683E-1 0.001781 195 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.G463C:p.E155Q CTAGE9:uc011ece.2:exon1:c.G463C:p.E155Q CTAGE9:NM_001145659:exon1:c.G463C:p.E155Q . . 0.14864865 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.296 . . 74.0 . . . . . . . . . . 0.1404 -0.099 0.140 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.340 . . exonic exonic exonic . . . @ . . . 0.36 0.15 182 ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.380 0.017 . . 37 . 0.433 . . 0.132 . . . 0.636 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.350 . . 0 0 0 0 0 0 . 0.689 . . 0.732 . . . . . . 2 0.298 . . . . . . . 0.129 . LowAF 0.09 . . . . . . . . . . . . . . . ENST00000314099 . . . 0.140000 A4FU28 . . . . . 0.141 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.140000 . . 9.999999999999999E-196 0.997 0.399 . . 0.948 . 0.220 . . . 0.537 . rs2072311 rs2072311 rs2072311 rs2072311 1 1538 10 1/0 0,244,255 +rs2072311 6 132031695 C G - ENPP3 3358 Ectonucleotide pyrophosphatase/phosphodiesterase 3 NM_005021.4 1 3232 2628 NP_005012.2 O14638 substitution intron GRCh37 132031695 132031695 Chr6(GRCh37):g.132031695C>G 1413-8117 1413-8117 NM_005021.4:c.1413-8117C>G p.? p.? 16 15 602182 -8117 3' 93.8233 9.85716 0.997057 4.82691 93.8233 9.85716 0.997057 4.82691 0 rs2072311 no no 0 C 0.000000 0 transversion C G C>G 0.000 -14.080 195 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.G463C:p.E155Q CTAGE9:uc011ece.2:exon1:c.G463C:p.E155Q CTAGE9:NM_001145659:exon1:c.G463C:p.E155Q . . 0.14864865 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.296 . . 74.0 . . . . . . . . . . 0.1404 -0.099 0.140 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.340 . . exonic exonic exonic . . . @ . . . 0.36 0.15 182 ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.380 0.017 . . 37 . 0.433 . . 0.132 . . . 0.636 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.350 . . 0 0 0 0 0 0 . 0.689 . . 0.732 . . . . . . 2 0.298 . . . . . . . 0.129 . LowAF 0.09 . . . . . . . . . . . . . . . ENST00000314099 . . . 0.140000 A4FU28 . . . . . 0.141 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.140000 . . 9.999999999999999E-196 0.997 0.399 . . 0.948 . 0.220 . . . 0.537 . rs2072311 rs2072311 rs2072311 rs2072311 1 1538 10 1/0 0,244,255 +rs4126643 6 132032100 C G - CTAGE9 37275 CTAGE family, member 9 NM_001145659.1 -1 2577 2334 NP_001139131.1 A4FU28 substitution missense exon GRCh37 132032100 132032100 Chr6(GRCh37):g.132032100C>G 58 58 NM_001145659.1:c.58G>C p.Gly20Arg p.Gly20Arg 1 rs4126643 yes no Frequency 1 0.000000 0 0.000186 0.001993 0.000569 0.000000 0.000063 0.000071 0.000008 0.000000 0.000000 0.001993 46 26 16 0 1 2 1 0 0 246798 13044 28108 9740 15804 28308 120630 25136 6028 0.000162 0.001687 0.000569 0.000000 0.000000 0.000071 0.000000 0.000000 0.000000 20 11 8 0 0 1 0 0 0 6 4 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 -0.440 G Gly GGC 0.342 R Arg CGC 0.190 20 22 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.54 3.X good 9.665E-1 0.4396 178 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.G58C:p.G20R CTAGE9:uc011ece.2:exon1:c.G58C:p.G20R CTAGE9:NM_001145659:exon1:c.G58C:p.G20R . . 0.11111111 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.032 . . 45.0 . . . . . . . . . . -1.5302 -1.503 -1.530 c . . . . . 1.522e-04 . . . 0 2.063e-05 0 0.0003 0 0 0 0 0 1.758e-05 0 0.0003 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . . @ . . . 0.4 0.21 182 ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.080 0.003 . . 37 . 0.014 . . 0.431 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . . . 0.157 . LowAF 0.74 rs200148936 0.033 0.036 . . . . . . . . . . . . ENST00000314099 . . . 1.000000 A4FU28 . . . . . 0.027 . . . 0.0028 0.0002 0.0006 0 6.944e-05 0 9.414e-06 0 7.065e-05 0.0008 0.0002 0 0 0 0 0 0 . . 0.246 . -0.414 -0.414000 . . 1.000000 . . 1.0E-178 0.985 0.357 . . . . 0.035 . . -0.414 . 0.033 rs4126643 rs4126643 rs4126643 rs200148936 1 1538 10 1/0 0,255,255 +rs4126643 6 132032100 C G - ENPP3 3358 Ectonucleotide pyrophosphatase/phosphodiesterase 3 NM_005021.4 1 3232 2628 NP_005012.2 O14638 substitution intron GRCh37 132032100 132032100 Chr6(GRCh37):g.132032100C>G 1413-7712 1413-7712 NM_005021.4:c.1413-7712C>G p.? p.? 16 15 602182 -7712 3' 93.8233 9.85716 0.997057 4.82691 93.8233 9.85716 0.997057 4.82691 0 rs4126643 yes no Frequency 1 0.000000 0 0.000186 0.001993 0.000569 0.000000 0.000063 0.000071 0.000008 0.000000 0.000000 0.001993 46 26 16 0 1 2 1 0 0 246798 13044 28108 9740 15804 28308 120630 25136 6028 0.000162 0.001687 0.000569 0.000000 0.000000 0.000071 0.000000 0.000000 0.000000 20 11 8 0 0 1 0 0 0 6 4 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.008 -0.440 178 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.G58C:p.G20R CTAGE9:uc011ece.2:exon1:c.G58C:p.G20R CTAGE9:NM_001145659:exon1:c.G58C:p.G20R . . 0.11111111 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.032 . . 45.0 . . . . . . . . . . -1.5302 -1.503 -1.530 c . . . . . 1.522e-04 . . . 0 2.063e-05 0 0.0003 0 0 0 0 0 1.758e-05 0 0.0003 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . . @ . . . 0.4 0.21 182 ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.080 0.003 . . 37 . 0.014 . . 0.431 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . . . 0.157 . LowAF 0.74 rs200148936 0.033 0.036 . . . . . . . . . . . . ENST00000314099 . . . 1.000000 A4FU28 . . . . . 0.027 . . . 0.0028 0.0002 0.0006 0 6.944e-05 0 9.414e-06 0 7.065e-05 0.0008 0.0002 0 0 0 0 0 0 . . 0.246 . -0.414 -0.414000 . . 1.000000 . . 1.0E-178 0.985 0.357 . . . . 0.035 . . -0.414 . 0.033 rs4126643 rs4126643 rs4126643 rs200148936 1 1538 10 1/0 0,255,255 +rs371770744 6 132181486 A G - ENPP1 3356 Ectonucleotide pyrophosphatase/phosphodiesterase 1 NM_006208.2 1 7442 2778 NP_006199.2 P22413 substitution intron GRCh37 132181486 132181486 Chr6(GRCh37):g.132181486A>G 796-41 796-41 NM_006208.2:c.796-41A>G p.? p.? 8 7 173335 -41 3' 92.0091 XI.47 0.979896 7.20444 92.0091 XI.47 0.979896 7.31515 0 Cryptic Donor Strongly Activated 132181486 0.111914 65.8058 5.88318 0.991603 77.9418 132181486 -67.4813 rs371770744 yes no Frequency 1 A 0.000000 0 0.000041 0.000000 0.000030 0.000000 0.000000 0.000000 0.000083 0.000000 0.000000 0.000083 11 0 1 0 0 0 10 0 0 266408 23292 33630 9764 18448 28746 120872 25396 6260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4396 12969 1 0 1 0.000116632 0 7.7101e-05 0.000116632 0 7.7101e-05 32 transition A G A>G 0.008 0.125 255 PASS . . . . . . . . . . . . . . . . 0.53333336 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . INTRON(MODIFIER||||ENPP1|mRNA|CODING|NM_006208|) . 0.0001 0.0001 . 0.0001 0.0001 . -0.0231 . . . . . . . . 3.949e-05 . . . 0 6.125e-05 0 0 0 0.0001 0 0 0 3.222e-05 0 0 0 6.555e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.16 182 ENSG00000197594 ENPP1 ENPP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371770744 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 3.823e-05 3.05e-05 0 0 0 7.557e-05 0 0 0 6.458e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs371770744 rs371770744 1 1538 10 1/0 0,255,255 +rs61729591 6 134210598 C G - TARID 50506 TCF21 antisense RNA inducing promoter demethylation NR_109982.1 -1 2984 0 substitution upstream GRCh37 134210598 134210598 Chr6(GRCh37):g.134210598C>G -454 -454 NR_109982.1:n.-454G>C p.? p.? 1 616058 -857 5' 87.5573 9.72159 0.993106 2.42219 87.5573 9.72159 0.993106 2.42219 0 rs61729591 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 0.003195 0.000800 0.001000 0.000000 0.007000 0.010100 0.005906 0.001706 0.002702 0.003546 0.000318 0.002924 0.009582 0.004109 0.007895 0.009582 1637 41 93 36 6 90 1214 106 51 277194 24028 34420 10152 18866 30782 126692 25794 6460 0.000072 0.000000 0.000000 0.000000 0.000000 0.000065 0.000111 0.000078 0.000310 10 0 0 0 0 1 7 1 1 1617 41 93 36 6 88 1200 104 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4397 12930 67 9 76 0.0077907 0.00204267 0.00584346 0.0077907 0.00204267 0.00584346 100 RCV000154188.3 germline literature only VUS 0 not provided transversion G C G>C 0.992 0.125 255 PASS 0.002 0.01 0.02 . 0.01 0.0008 0.0032 0.01 . 0.007 0.001 . . . . . 0.47297296 . . germline 70 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.133 . Uncertain//\@significance Uncertain_significance RCV000154188.3 not_provided MedGen CN221809 1 0.190 . . 148.0 . . . 0.002 0.0058 0.0078 0.002 0.0058 0.0078 . -1.0153 -0.942 -1.015 c . . . . . 5.738e-03 . . . 0.0016 0.0049 0.0035 0.0005 0.0026 0.0077 0.0042 0.0030 0.0018 0.0053 0.0032 0.0003 0.0029 0.0082 0.0014 0.0030 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.962 . . exonic exonic exonic . . 0.165 0.0032 . . . 0.54 0.21 182 ENSG00000118526 TCF21 TCF21 . . . 1.000 0.473 . 498 0.00766437 64976 482 0.00803521 59986 Likely_benign . 0 . 0.429 . . . . . . . . . 37 . 0.810 . . 0.716 . . . 0.145 0.432 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.146 . . 0 0 0 0 1 0 . 0.261 . . 0.208 . . . . . . 0 0.110 . . . . . 0.093 . 0.120 . HET 0.42 rs61729591 . . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000154188.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000154188.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . 0.00641025641025641 0.0020325203252032522 0.016574585635359115 0.0 0.009234828496042216 4.084 0.00214 . IV.43 0.582 . 0.740000 O43680 . . Name\x3desv34122 0.005843 . 0.257 . . . 0.0013 0.0059 0.0027 0.0037 0.0003 0.0040 0.0096 0.0082 0.0029 0.0024 0.0060 0.0036 0 0 0.0046 0.0093 0.0061 . . 0.062 . -0.226 -0.226000 . . 0.740000 . . 1.0E-255 0.191 0.240 . 0.390 0.949 . 0.072 . 0.130 -0.226 0.871 0.02 rs61729591 rs61729591 rs61729591 rs61729591 1 1538 10 1/0 0,239,255 +rs61729591 6 134210598 C G - TCF21 11632 Transcription factor 21 NM_198392.2 1 3208 540 NP_938206.1 O43680 substitution missense exon GRCh37 134210598 134210598 Chr6(GRCh37):g.134210598C>G 63 63 NM_198392.2:c.63C>G p.Asp21Glu p.Asp21Glu 1 603306 -388 5' 87.1266 10.0978 0.989695 11.834 87.1266 10.0978 0.989695 11.834 0 Cryptic Donor Strongly Activated 134210593 1.63034 0.002795 65.0012 4.51166 0.063933 77.6972 rs61729591 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 0.003195 0.000800 0.001000 0.000000 0.007000 0.010100 0.005906 0.001706 0.002702 0.003546 0.000318 0.002924 0.009582 0.004109 0.007895 0.009582 1637 41 93 36 6 90 1214 106 51 277194 24028 34420 10152 18866 30782 126692 25794 6460 0.000072 0.000000 0.000000 0.000000 0.000000 0.000065 0.000111 0.000078 0.000310 10 0 0 0 0 1 7 1 1 1617 41 93 36 6 88 1200 104 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4397 12930 67 9 76 0.0077907 0.00204267 0.00584346 0.0077907 0.00204267 0.00584346 100 RCV000154188.3 germline literature only VUS 0 not provided HM050001 Sensorineural hearing loss DM? transversion C G C>G 0.992 0.125 D Asp GAC 0.539 E Glu GAG 0.583 21 11 11 Frog 2 2 2 I.38 0.92 13 12.III 54 83 45 C35 0.00 44.60 Deleterious 0 IV.32 bad 8.121E-5 0.0001552 255 PASS 0.002 0.01 0.02 . 0.01 0.0008 0.0032 0.01 . 0.007 0.001 . . . . . 0.47297296 . . germline 70 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.133 . Uncertain//\@significance Uncertain_significance RCV000154188.3 not_provided MedGen CN221809 1 0.190 . . 148.0 . . . 0.002 0.0058 0.0078 0.002 0.0058 0.0078 . -1.0153 -0.942 -1.015 c . . . . . 5.738e-03 . . . 0.0016 0.0049 0.0035 0.0005 0.0026 0.0077 0.0042 0.0030 0.0018 0.0053 0.0032 0.0003 0.0029 0.0082 0.0014 0.0030 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.962 . . exonic exonic exonic . . 0.165 0.0032 . . . 0.54 0.21 182 ENSG00000118526 TCF21 TCF21 . . . 1.000 0.473 . 498 0.00766437 64976 482 0.00803521 59986 Likely_benign . 0 . 0.429 . . . . . . . . . 37 . 0.810 . . 0.716 . . . 0.145 0.432 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.146 . . 0 0 0 0 1 0 . 0.261 . . 0.208 . . . . . . 0 0.110 . . . . . 0.093 . 0.120 . HET 0.42 rs61729591 . . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000154188.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000154188.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . 0.00641025641025641 0.0020325203252032522 0.016574585635359115 0.0 0.009234828496042216 4.084 0.00214 . IV.43 0.582 . 0.740000 O43680 . . Name\x3desv34122 0.005843 . 0.257 . . . 0.0013 0.0059 0.0027 0.0037 0.0003 0.0040 0.0096 0.0082 0.0029 0.0024 0.0060 0.0036 0 0 0.0046 0.0093 0.0061 . . 0.062 . -0.226 -0.226000 . . 0.740000 . . 1.0E-255 0.191 0.240 . 0.390 0.949 . 0.072 . 0.130 -0.226 0.871 0.02 rs61729591 rs61729591 rs61729591 rs61729591 1 1538 10 1/0 0,239,255 +. 6 139113870 T TAACT - CCDC28A 21098 Coiled-coil domain containing 28A NM_015439.2 1 1496 825 NP_056254.1 Q8IWP9 duplication intron GRCh37 139113874 139113875 Chr6(GRCh37):g.139113871_139113874dup 771-15 771-12 NM_015439.2:c.771-15_771-12dup p.? p.? 6 5 615353 -11 3' 74.5904 3.28871 0.041016 0 74.5904 II.43 0.003325 0 -0.413183 rs139961983 yes no Frequency/1000G 2 0.000000 0 0.123203 0.037100 0.080800 0.173600 0.195800 0.168600 0.167807 0.050639 0.193653 0.219976 0.193761 0.108979 0.193204 0.143351 0.180634 0.219976 45534 1205 6597 2209 3621 3311 24120 3320 1151 271348 23796 34066 10042 18688 30382 124842 23160 6372 0.029755 0.002774 0.035226 0.048994 0.036601 0.015009 0.036078 0.018912 0.036723 4037 33 600 246 342 228 2252 219 117 37460 1139 5397 1717 2937 2855 19616 2882 917 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6629 4054 10683 1621 210 1831 0.196485 0.0492495 0.146316 0.196485 0.0492495 0.146316 47 AACT 255 Pass . . . . . . . . . . . . . . . . 0.34375 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000024862 CCDC28A CCDC28A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs3830932 rs3830932 1 1538 10 1.I 0,11,46 +. 6 142491463 C CG - VTA1 20954 Vesicle (multivesicular body) trafficking 1 NM_016485.4 1 3355 924 NP_057569.2 Q9NP79 duplication intron GRCh37 142491464 142491465 Chr6(GRCh37):g.142491464dup 336-19 336-19 NM_016485.4:c.336-19dup p.? p.? 4 3 610902 -18 3' 93.7506 XII.87 0.980729 9.81524 93.7506 X.74 0.974364 7.01069 -0.03821 rs11446143 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999967 0.999958 0.999970 1.000000 1.000000 0.999966 0.999968 0.999959 0.999842 1.000000 270627 23827 33165 10020 18528 29011 125282 24455 6339 270636 23828 33166 10020 18528 29012 125286 24456 6340 0.999933 0.999916 0.999940 1.000000 1.000000 0.999931 0.999936 0.999918 0.999685 135309 11913 16582 5010 9264 14505 62639 12227 3169 2 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 1 3 4 8244 4261 12505 0.000121286 0.000703565 0.00031977 0.999879 0.999296 0.99968 103 G 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.8888889 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 18 . . . 1. 1. 1. 1. 1. 1. . . . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 1.0000 1 0.9999 1 1.0000 1 1 1 1.0000 1 0.9999 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000009844 VTA1 VTA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11446143 0.174 0.210 . . . . . . . . . . . . . . . . . . . . . 0.999920 . . . . . 1 1.0000 1.0000 1 1 1.0000 1.0000 0.9998 1.0000 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs72556186 rs11446143 rs11446143 1 1538 10 1.I 0,5,5 +rs12210406 6 144098424 C T - PHACTR2 20956 Phosphatase and actin regulator 2 NM_001100164.1 1 9633 1938 NP_001093634.1 substitution intron GRCh37 144098424 144098424 Chr6(GRCh37):g.144098424C>T 1590-41 1590-41 NM_001100164.1:c.1590-41C>T p.? p.? 9 8 608724 -41 3' 87.6254 7.29186 0.973643 8.13556 87.6254 7.29186 0.973643 7.92574 0 rs12210406 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.004083 0.000351 0.000882 0.000124 0.000000 0.000630 0.005860 0.010112 0.003305 0.010112 981 8 22 1 0 15 669 248 18 240246 22794 24930 8064 16508 23816 114162 24526 5446 0.000042 0.000000 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 5 0 0 0 0 0 5 0 0 971 8 22 1 0 15 659 248 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8109 3633 11742 43 3 46 0.00527478 0.000825083 0.00390227 0.00527478 0.000825083 0.00390227 54 transition C T C>T 0.000 -1.167 250 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . 0.0008 0.0039 0.0053 0.0008 0.0039 0.0053 . 0.1788 . . . . . . . . 3.883e-03 . . . 0.0005 0.0032 0.0007 0 0.0085 0.0053 0.0030 0.0007 0.0006 0.0037 0.0007 0 0.0090 0.0056 0.0015 0.0007 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.49 0.11 182 ENSG00000112419 PHACTR2 PHACTR2 . . . . . . 262 0.00403226 64976 259 0.00431767 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12210406 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5513 0.003902 . . . . . 0.0004 0.0038 0.0009 0.0001 0 0.0104 0.0053 0.0025 0.0006 0.0002 0.0059 0 0 0 0.0086 0.0095 0.0071 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.0053 rs12210406 rs12210406 rs12210406 rs12210406 1 1538 10 1/0 0,255,255 +rs371948336 6 144898362 T G - UTRN 12635 Utrophin NM_007124.2 1 12431 10302 NP_009055.2 P46939 substitution missense exon GRCh37 144898362 144898362 Chr6(GRCh37):g.144898362T>G 7417 7417 NM_007124.2:c.7417T>G p.Ser2473Ala p.Ser2473Ala 50 128240 -63 5' 100 X.83 0.998156 X.36 100 X.83 0.998156 X.11 0 Spectrin repeat Spectrin/alpha-actinin Dystrophin/utrophin rs371948336 yes no Frequency 1 T 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000040 0.000000 0.000000 0.000040 5 0 0 0 0 0 5 0 0 276810 24024 34370 10136 18820 30780 126434 25788 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 122 transversion T G T>G 0.984 0.044 S Ser TCT 0.185 A Ala GCT 0.263 2473 14 11 Tetraodon 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 243.48 0.00 Tolerated 0.94 III.40 good 2,41E-01 1 255 PASS . . . . . . . . . . . ENSG00000152818:ENST00000367545:exon50:c.T7417G:p.S2473A UTRN:uc003qkt.3:exon50:c.T7417G:p.S2473A UTRN:NM_007124:exon50:c.T7417G:p.S2473A . . 0.47142857 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.196 . @ . . . . . 1 0.251 . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Gct|S2473A|UTRN|mRNA|CODING|NM_007124|NM_007124.ex.50) . 0.0001 0.0001 . 0.0001 0.0001 . -0.6369 -0.476 -0.637 c . . . . . 7.893e-06 . . . 0 1.105e-05 0 0 0 2.376e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.488 . . exonic exonic exonic . . 0.145 @ . . . 0.64 0.27 182 ENSG00000152818 UTRN UTRN . . . 0.909 0.263 . . . . . . . Uncertain_significance . 0 . 0.250 . . . . T 0.124 0.005 . . 37 . 0.178 . . 0.058 . . . 0.165 0.231 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.067 . . 0.127 . . . . . . 0 0.068 . . . . . 0.877 . 0.049 . HET 0.28 rs371948336 . . . . . . . . . . . . 17.5413 0.0 ENST00000367545 6.III 0.22 . 0.110000 P46939 . . . 0.000077 . 0.499 . . . 0 1.22e-05 0 0 0 0 2.692e-05 0 0 0 6.46e-05 0 0 0 0 0.0001 0 . . 0.609 . 0.134 0.134000 . . 0.110000 . . 1.0E-255 1.000 0.715 . 0.529 0.993 . 0.446 . 0.211 0.134 -0.013 0.0001 . . rs371948336 rs371948336 1 1538 10 1/0 0,255,255 +rs779882086 6 146870693 A G - RAB32 9772 RAB32, member RAS oncogene family NM_006834.4 1 1209 678 NP_006825.1 Q13637 substitution missense exon GRCh37 146870693 146870693 Chr6(GRCh37):g.146870693A>G 344 344 NM_006834.4:c.344A>G p.Glu115Gly p.Glu115Gly 2 612906 94 3' 81.6904 8.16865 0.827121 6.202 81.6904 8.16865 0.827121 6.202 0 Cryptic Acceptor Strongly Activated 146870699 0.000329 0.746186 0.000473 67.8211 Small GTP-binding protein domain Small GTPase superfamily Mitochondrial Rho-like Small GTPase superfamily, ARF/SAR type rs779882086 yes no Frequency 1 A 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000045 0.000000 0.000045 3 0 0 0 0 0 2 1 0 246254 15304 33582 9850 17248 30782 111706 22298 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 PASS 62 Exomes transition A G A>G 1.000 5.048 E Glu GAG 0.583 G Gly GGG 0.250 115 13 10 Baker's yeast -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C15 44.60 75.33 Deleterious 0.01 III.16 255 PASS . . . . . . . . . . . ENSG00000118508:ENST00000367495:exon2:c.A344G:p.E115G RAB32:uc003qln.1:exon2:c.A344G:p.E115G RAB32:NM_006834:exon2:c.A344G:p.E115G . . 0.45679012 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.673 . @ . . . . . 1 0.973 . . 81.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E115G|RAB32|mRNA|CODING|NM_006834|NM_006834.ex.2) . . . . . . . 0.7748 0.778 0.775 c . . . . . 1.578e-05 . . . 0 2.204e-05 0 0 0 4.746e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.787 . . exonic exonic exonic . . 0.886 @ . . . . . . ENSG00000118508 RAB32 RAB32 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.722 0.075 . . 37 . 0.817 . . 0.843 . . . 0.728 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.789 . . 0 0 0 0 0 0 . 0.528 . . 0.597 . . . . . . 0 0.632 . . . . . 0.797 . 0.537 . HET 0 rs779882086 . . . . . . . . . . . . 15.9644 . ENST00000367495 5.VII 5.VII . 0.010000 Q13637 . . . . . 0.699 . . 5.VII 0 1.218e-05 0 0 0 4.485e-05 1.79e-05 0 0 . . . . . . . . . . 0.730 . 2.170 2.170000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.604 0.995 . 0.927 . 0.893 2.170 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs549392717 6 147660296 G A - STXBP5 19665 Syntaxin binding protein 5 (tomosyn) NM_001127715.2 1 9352 3456 NP_001121187.1 Q5T5C0 substitution intron GRCh37 147660296 147660296 Chr6(GRCh37):g.147660296G>A 2147-19 2147-19 NM_001127715.2:c.2147-19G>A p.? p.? 20 19 604586 -19 3' 85.4001 8.25367 0.900797 4.57995 85.4001 7.89772 0.90328 4.61301 -0.0134564 rs549392717 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000256 0.000000 0.000000 0.000000 0.000096 0.000055 0.000460 0.000452 0.000000 0.000460 42 0 0 0 1 1 31 9 0 164282 15570 20280 8112 10390 18236 67408 19890 4396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 0 0 0 1 1 31 9 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.992 0.367 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.45454547 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . 1.0830 . . . . . . . . 1.110e-04 . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000164506 STXBP5 STXBP5 . . . . . . 16 0.000246245 64976 15 0.000250058 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs549392717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.31 0 0.0002 0 0 0.0001 0.0004 0.0002 0 5.484e-05 0 0.0006 0 0 0 0.0006 0.0012 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs55873689 6 147674450 A G - STXBP5 19665 Syntaxin binding protein 5 (tomosyn) NM_001127715.2 1 9352 3456 NP_001121187.1 Q5T5C0 substitution intron GRCh37 147674450 147674450 Chr6(GRCh37):g.147674450A>G 2255-9 2255-9 NM_001127715.2:c.2255-9A>G p.? p.? 22 21 604586 -9 3' 93.4136 7.86709 0.79224 0 93.4136 7.92579 0.775905 0 -0.00438582 rs55873689 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.012900 0.000000 0.005168 0.001575 0.001383 0.000109 0.000000 0.001758 0.008682 0.005482 0.004508 0.008682 1301 35 41 1 0 45 1015 138 26 251758 22222 29652 9142 17298 25602 116902 25172 5768 0.000079 0.000000 0.000067 0.000000 0.000000 0.000000 0.000154 0.000000 0.000000 10 0 1 0 0 0 9 0 0 1281 35 39 1 0 45 997 138 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8432 4338 12770 68 6 74 0.008 0.00138122 0.00576145 0.008 0.00138122 0.00576145 17 transition A G A>G 1.000 0.448 255 PASS . 0.0037 . . 0.01 . 0.0026 . . 0.013 . . . . . . 0.6875 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . 0.0014 0.0058 0.008 0.0014 0.0058 0.008 . I.52 . . . . . . . . 4.842e-03 . . . 0.0019 0.0054 0.0020 0 0.0079 0.0096 0 0.0017 0.0017 0.0070 0.0020 0 0.0061 0.0132 0 0.0017 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.6 0.54 182 ENSG00000164506 STXBP5 STXBP5 . . . . . . 445 0.00684868 64976 433 0.00721835 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55873689 0.011 0.058 . . . . . . . . . . . . . . . . . . 0.0054 0.064 . 0.005761 . . . . 3.II 0.0014 0.0051 0.0014 0.0001 0 0.0053 0.0086 0.0048 0.0018 0.0018 0.0059 0 0 0 0.0063 0.0094 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs55873689 rs55873689 rs55873689 rs55873689 1 1538 10 1/0 0,255,255 +rs573842020 6 150285083 C A - ULBP1 14893 UL16 binding protein 1 NM_025218.3 1 3178 735 NP_079494.1 Q9BZM6 substitution upstream GRCh37 150285083 150285083 Chr6(GRCh37):g.150285083C>A -103 -103 NM_025218.3:c.-103C>A p.? p.? 1 605697 -188 5' 82.5954 11.1124 0.962521 9.63793 82.5954 11.1124 0.962521 9.63793 0 rs573842020 yes no Frequency 1 C 0.000000 0 0.000162 0.000230 0.000000 0.000000 0.000000 0.000000 0.000200 0.000000 0.000000 0.000230 5 2 0 0 0 0 3 0 0 30924 8704 838 300 1622 0 14988 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C A C>A 0.016 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.46153846 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 65.0 . . . . . . . . . . 0.6863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000111981 ULBP1 ULBP1 . . . . . . 12 0.000184684 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs573842020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs9397509 6 152784621 T C - SYNE1 17089 Spectrin repeat containing nuclear envelope protein 1 NM_182961.3 -1 27748 26394 NP_892006.3 Q8NF91 substitution missense exon GRCh37 152784621 152784621 Chr6(GRCh37):g.152784621T>C 1964 1964 NM_182961.3:c.1964A>G p.Gln655Arg p.Gln655Arg 19 608441 32 3' 86.8788 7.63002 0.313873 3.04729 86.8788 7.63002 0.313873 3.21678 0 Cryptic Acceptor Strongly Activated 152784616 0.180866 0.01256 1.06083 0.012703 72.5322 Peptidase C2, calpain, large subunit, domain III ABC transporter type 1, transmembrane domain rs9397509 yes no Frequency/HapMap/1000G 3 T uncertain_significance,likely_benign 0.000000 0 0.003994 0.000800 0.000000 0.000000 0.011900 0.010100 0.006362 0.001457 0.004603 0.017068 0.000000 0.000032 0.007909 0.013041 0.009001 0.017068 1759 35 158 173 0 1 998 336 58 276488 24024 34326 10136 18846 30770 126178 25764 6444 0.000080 0.000000 0.000058 0.000000 0.000000 0.000000 0.000079 0.000233 0.000621 11 0 1 0 0 0 5 3 2 1737 35 156 173 0 1 988 330 54 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4400 12931 69 6 75 0.00802326 0.00136178 0.00576657 0.00802326 0.00136178 0.00576657 61 RCV000445089.1|RCV000361444.1|RCV000263930.1|RCV000118457.5 germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Likely benign|Likely benign|Likely benign|Benign 1|1|1|2 not provided|Cerebellar ataxia|Emery-Dreifuss muscular dystrophy|not specified transition A G A>G 1.000 4.725 Q Gln CAG 0.744 R Arg CGG 0.207 655 12 9 C. elegans 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 353.86 0.00 Deleterious 0.01 III.22 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.004 0.01 . 0.012 . . . . . . 0.39534885 . . germline 17 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.606 . Uncertain//\@significance//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Likely//\@benign//\%//\@Likely//\@benign Uncertain_significance|other|Likely_benign|Likely_benign RCV000077790.3|RCV000118457.3|RCV000263930.1|RCV000361444.1 Intellectual_functioning_disability|not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia MedGen:SNOMED_CT:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|. C0025362:228156007:91138005|CN169374|C0410189:ORPHA261:111508004|. 1 0.920 . . 43.0 . . . 0.0014 0.0058 0.008 0.0014 0.0058 0.008 . 0.5873 0.630 0.587 c . . . . . 6.276e-03 . . . 0.0014 0.0057 0.0067 0 0.0125 0.0088 0.0085 6.189e-05 0.0016 0.0062 0.0069 0 0.0139 0.0086 0.0058 6.225e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.346 . . exonic exonic exonic . . 0.836 0.0040 . . . 0.53 0.69 182 ENSG00000131018 SYNE1 SYNE1 . . . 1.000 0.747 . 557 0.0085724 64976 537 0.00895209 59986 Uncertain_significance . 0 . 0.559 . . . . . . . . . 37 . 0.375 . . 0.092 . . . 0.622 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.608 . . 0 0 0 0 1 0 . 0.715 . . 0.671 . . . . . . 0 0.632 . . . . . 0.801 . 0.697 . HET 0.01 rs9397509 . 0.065 . CLINSIG\x3dunknown|probable-non-pathogenic\x3bCLNDBN\x3dIntellectual_functioning_disability|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000077790.1|RCV000118457.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT:SNOMED_CT|.\x3bCLNDSDBID\x3dC0025362:228156007:91138005|. CLINSIG\x3dunknown|probable-non-pathogenic\x3bCLNDBN\x3dIntellectual_functioning_disability|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000077790.2|RCV000118457.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0025362:228156007:91138005|CN169374 CLINSIG\x3dunknown\x3bCLNDBN\x3dIntellectual_functioning_disability\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000077790.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT:SNOMED_CT\x3bCLNDSDBID\x3dC0025362:228156007:91138005 . 0.00641025641025641 0.0020325203252032522 0.008287292817679558 0.0 0.013192612137203167 16.0068 0.001338 . V.56 V.56 . 0.290000 . . . Name\x3dnsv830846 0.005767 . 0.758 . . V.56 0.0011 0.0063 0.0045 0.0173 0 0.0132 0.0078 0.0090 3.25e-05 0.0021 0.0068 0.0084 0.0099 0 0.0123 0.0087 0.0092 . . 0.246 . 2.241 2.241000 . . 0.290000 . . 1.0E-255 1.000 0.715 . 0.750 0.999 . 0.855 . 0.635 2.241 0.991 0.01 rs9397509 rs9397509 rs9397509 rs9397509 1 1538 10 1/0 0,255,255 +rs147069918 6 155054967 C T - SCAF8 20959 SR-related CTD-associated factor 8 NM_001286188.1 1 4944 4050 NP_001273117.1 substitution missense exon GRCh37 155054967 155054967 Chr6(GRCh37):g.155054967C>T 167 167 NM_001286188.1:c.167C>T p.Ala56Val p.Ala56Val 2 616024 39 3' 77.4475 8.32953 0.159579 3.62709 77.4475 8.32953 0.159579 3.31465 0 rs147069918 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.003292 0.001256 0.001224 0.000734 0.000000 0.001288 0.005238 0.001958 0.005511 0.005238 607 21 20 5 0 26 471 42 22 184410 16726 16334 6812 8994 20180 89924 21448 3992 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 607 21 20 5 0 26 471 42 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.535 0.044 A Ala GCT 0.263 V Val GTT 0.178 56 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . 0.0009 . . 0.0026 . 0.0014 0.0029 . 0.005 . . . SCAF8:NM_001286188:exon2:c.C167T:p.A56V . . 0.67346936 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.328 . @ . . . . . 1 0.325 . . 49.0 . . . . . . . . . . 2.1624 6.556 2.162 n . . . . . 3.052e-03 . . . 0.0017 0.0052 0.0040 0 0.0057 0.0088 0 0.0021 0.0020 0.0053 0.0040 0 0.0059 0.0078 0 0.0021 . . nonsynonymous_SNV . . . UTR5 UTR5 exonic . . 0.146 0.0014 . . . 0.54 0.29 182 ENSG00000213079 SCAF8 SCAF8 . . . 1.000 0.747 . 226 0.00347821 64976 219 0.00365085 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.425 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.090 . . . HET . rs147069918 . . . . . . . . . . . . . . . . . . . . . . . . . 0.055 . . . 0.0007 0.0033 0.0012 0.0008 0 0.0019 0.0052 0.0063 0.0013 0.0017 0.0035 0.0024 0 0 0.0020 0.0054 0.0031 . . 0.018 . . . . . . . . 1.0E-255 0.174 0.238 . 0.454 0.003 . 0.125 . 0.286 . -0.041 0.0026 . . rs147069918 rs147069918 1 1538 10 1/0 0,255,255 +rs151179291 6 158349699 C T - SNX9 14973 Sorting nexin 9 NM_016224.4 1 4291 1788 NP_057308.1 Q9Y5X1 substitution missense exon GRCh37 158349699 158349699 Chr6(GRCh37):g.158349699C>T 1253 1253 NM_016224.4:c.1253C>T p.Thr418Met p.Thr418Met 12 605952 -36 5' 74.72 10.106 0.978581 6.50199 74.72 10.106 0.978581 5.96517 0 Cryptic Acceptor Strongly Activated 158349710 0.274674 6.8e-05 65.4127 1.10649 0.000122 69.5146 Sorting nexin protein, WASP-binding domain Sorting nexin, Snx9 type rs151179291 yes no Frequency/1000G 2 C 0.000000 0 0.003594 0.000000 0.006100 0.001000 0.009900 0.001400 0.005404 0.001034 0.005272 0.015515 0.000979 0.002352 0.007167 0.003324 0.007518 0.015515 1450 24 178 154 18 70 877 82 47 268322 23200 33762 9926 18386 29768 122362 24666 6252 0.000045 0.000000 0.000000 0.000403 0.000000 0.000067 0.000033 0.000000 0.000320 6 0 0 2 0 1 2 0 1 1438 24 178 150 18 68 873 82 45 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4400 12936 64 6 70 0.00744186 0.00136178 0.00538213 0.00744186 0.00136178 0.00538213 49 COSM4406835 Liver 0.000422 2371 transition C T C>T 0.102 -1.893 T Thr ACG 0.116 M Met ATG 1.000 418 12 8 Tetraodon -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 232.67 44.78 Deleterious 0.05 3.VII 255 PASS . 0.0041 0.0028 0.0017 0.01 . 0.0036 0.0014 0.001 0.0099 0.0061 ENSG00000130340:ENST00000392185:exon12:c.C1253T:p.T418M SNX9:uc003qqv.1:exon12:c.C1253T:p.T418M SNX9:NM_016224:exon12:c.C1253T:p.T418M . . 0.4949495 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.904 . @ . . . . . 1 0.954 . . 99.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T418M|SNX9|mRNA|CODING|NM_016224|NM_016224.ex.12) 0.0014 0.0054 0.0074 0.0014 0.0054 0.0074 . -0.2194 -0.286 -0.219 c . . . . . 5.203e-03 . . . 0.0017 0.0061 0.0063 0.0007 0.0051 0.0089 0.0084 0.0031 0.0017 0.0066 0.0065 0.0010 0.0061 0.0092 0.0046 0.0031 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.437 . . exonic exonic exonic . . 0.477 0.0036 . . . 0.27 0.23 182 ENSG00000130340 SNX9 SNX9 . . . 0.999 0.394 . 379 0.00583292 64976 361 0.00601807 59986 Uncertain_significance . 0 . 0.537 . . . . D 0.733 0.079 . . 37 . 0.399 . . 0.318 . . . 0.651 0.488 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.540 . . 0 0 0 0 0 0 . 0.670 . . 0.574 . . . . . . 0 0.531 . . . . . 0.689 . 0.701 . HET 0.01 rs151179291 . 0.051 . . . . . 0.004120879120879121 0.0 0.0027624309392265192 0.0017482517482517483 0.009234828496042216 14.7315 0.001338 . 5.II IV.14 . 0.100000 Q9Y5X1 . . Name\x3dnsv5558 0.005382 . 0.463 . . IV.14 0.0012 0.0054 0.0053 0.0156 0.0008 0.0031 0.0069 0.0070 0.0024 0.0007 0.0057 0.0060 0.0132 0.0025 0.0049 0.0088 0.0102 . . 0.730 . -1.637 -1.637000 . . 0.100000 . . 1.0E-255 0.997 0.399 . 0.625 0.998 . 0.534 . 0.490 -1.637 0.871 0.01 . . rs151179291 rs151179291 1 1538 10 1/0 0,255,255 +. 6 158509887 A G - SYNJ2 11504 Synaptojanin 2 NM_003898.3 1 7409 4491 NP_003889.1 O15056 substitution intron GRCh37 158509887 158509887 Chr6(GRCh37):g.158509887A>G 3456+83 3456+83 NM_003898.3:c.3456+83A>G p.? p.? 24 24 609410 83 5' 74.1084 7.21055 0.927669 5.57707 74.1084 7.21055 0.927669 5.57707 0 0.000226 0.000000 0.000000 0.000000 0.000000 0.000000 0.000466 0.000000 0.000000 0.000466 7 0 0 0 0 0 7 0 0 30960 8726 838 302 1616 0 15006 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.1605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000078269 SYNJ2 SYNJ2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs377710394 6 160132326 T A - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132326 160132326 Chr6(GRCh37):g.160132326T>A -18127 -18127 NM_000636.3:c.-18127A>T p.? p.? 1 147460 -18150 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 rs377710394 no no 0 T 0.000000 0 0.007338 0.009153 0.019481 0.022727 0.006024 0.000000 0.006125 0.007160 0.005882 0.022727 42 8 3 2 3 0 19 6 1 5724 874 154 88 498 0 3102 838 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 8 3 2 3 0 19 6 1 0 0 0 0 0 0 0 0 0 RF 72 Genomes transversion A T A>T 0.016 0.044 230 PASS . . . . . . . . . . . . . . . . 0.24418604 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 86.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d17973\x3bdist\x3d15704 dist\x3d17973\x3bdist\x3d15704 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs377710394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0092 0.0073 0.0195 0.0227 0.0060 0.0072 0.0061 0.0059 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs377710394 rs377710394 1 1538 10 1/0 0,245,255 +. 6 160132347 T C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132347 160132347 Chr6(GRCh37):g.160132347T>C -18148 -18148 NM_000636.3:c.-18148A>G p.? p.? 1 147460 -18171 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 0.002357 0.001412 0.011364 0.000000 0.000000 0.000000 0.001790 0.005168 0.000000 0.011364 12 1 2 0 0 0 5 4 0 5092 708 176 76 400 0 2794 774 164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 1 2 0 0 0 5 4 0 0 0 0 0 0 0 0 0 0 RF 77 Genomes transition A G A>G 0.059 0.044 183 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d17994\x3bdist\x3d15683 dist\x3d17994\x3bdist\x3d15683 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0024 0.0114 0 0 0.0052 0.0018 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +. 6 160132401 A AC - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 insertion upstream GRCh37 160132401 160132402 Chr6(GRCh37):g.160132401_160132402insC -18203 -18202 NM_000636.3:c.-18203_-18202insG p.? p.? 1 147460 -18225 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 New Donor Site 160132402 5.83957 0.738244 69.9338 rs762473745 no no 0 0.000000 0 0.001447 0.000000 0.000000 0.000000 0.000000 0.000000 0.001458 0.003448 0.000000 0.003448 2 0 0 0 0 0 1 1 0 1382 118 54 24 144 0 686 290 66 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 189 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.27868852 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 61 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . . . . . . . . ENSG00000112096 . . . dist\x3d18048\x3bdist\x3d15629 dist\x3d18048\x3bdist\x3d15629 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . rs762473745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0014 0 0 0 0.0034 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,55 +rs545072737 6 160132404 A T - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132404 160132404 Chr6(GRCh37):g.160132404A>T -18205 -18205 NM_000636.3:c.-18205T>A p.? p.? 1 147460 -18228 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 rs545072737 yes no Frequency/1000G 2 0.000000 0 0.014976 0.020400 0.021500 0.005000 0.012900 0.013000 0.002283 0.000000 0.000000 0.000000 0.000000 0.000000 0.002262 0.005618 0.000000 0.005618 2 0 0 0 0 0 1 1 0 876 78 20 22 102 0 442 178 34 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 292 Genomes transversion T A T>A 0.012 -2.377 237 PASS . . . . . 0.02 0.015 0.013 0.005 0.013 0.021 . . . . . 0.26785713 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 56.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . 0.0150 . . . . . . ENSG00000112096 . . . dist\x3d18051\x3bdist\x3d15626 dist\x3d18051\x3bdist\x3d15626 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs545072737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0023 0 0 0 0.0056 0.0023 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 160132696 T C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132696 160132696 Chr6(GRCh37):g.160132696T>C -18497 -18497 NM_000636.3:c.-18497A>G p.? p.? 1 147460 -18520 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 0.002546 0.003213 0.000000 0.000000 0.000000 0.000000 0.002052 0.007042 0.000000 0.007042 15 5 0 0 0 0 6 4 0 5892 1556 82 92 466 0 2924 568 204 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 5 0 0 0 0 6 4 0 0 0 0 0 0 0 0 0 0 RF 162 Genomes transition A G A>G 0.000 -14.080 200 PASS . . . . . . . . . . . . . . . . 0.14492753 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d18343\x3bdist\x3d15334 dist\x3d18343\x3bdist\x3d15334 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0025 0 0 0 0.0070 0.0021 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200043120 6 160132705 T C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132705 160132705 Chr6(GRCh37):g.160132705T>C -18506 -18506 NM_000636.3:c.-18506A>G p.? p.? 1 147460 -18529 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 New Donor Site 160132706 1.28776 0.073248 73.2228 rs200043120 no no 0 T 0.000000 0 0.000961 0.000328 0.000000 0.000000 0.004918 0.000000 0.000466 0.003326 0.000000 0.004918 9 1 0 0 3 0 2 3 0 9364 3048 156 104 610 0 4290 902 254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 3 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 103 Genomes transition A G A>G 0.000 -14.080 217 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . 0.22 0.03 182 ENSG00000112096 . . . dist\x3d18352\x3bdist\x3d15325 dist\x3d18352\x3bdist\x3d15325 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200043120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0010 0 0 0.0049 0.0033 0.0005 0 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs200043120 rs200043120 1 1538 10 1/0 0,242,255 +rs201014460 6 160132707 A T - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132707 160132707 Chr6(GRCh37):g.160132707A>T -18508 -18508 NM_000636.3:c.-18508T>A p.? p.? 1 147460 -18531 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 rs201014460 no no 0 A 0.000000 0 0.000067 0.000000 0.000000 0.000000 0.001295 0.000000 0.000000 0.000000 0.000000 0.001295 1 0 0 0 1 0 0 0 0 14906 4840 342 148 772 0 6816 1562 426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 66 Genomes transversion T A T>A 0.000 -14.080 194 PASS . . . . . . . . . . . . . . . . 0.14634146 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . 0.22 0.06 182 ENSG00000112096 . . . dist\x3d18354\x3bdist\x3d15323 dist\x3d18354\x3bdist\x3d15323 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs201014460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.709e-05 0 0 0.0013 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs201014460 rs201014460 1 1538 10 1/0 0,239,255 +rs878863124 6 160132836 A C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132836 160132836 Chr6(GRCh37):g.160132836A>C -18637 -18637 NM_000636.3:c.-18637T>G p.? p.? 1 147460 -18660 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 Cryptic Donor Strongly Activated 160132841 0.004322 61.1471 0.954736 0.068795 73.5399 rs878863124 no no 0 0.000000 0 0.001092 0.000355 0.001825 0.000000 0.000000 0.000000 0.001390 0.001496 0.003597 0.001825 20 2 1 0 0 0 12 3 2 18316 5638 548 214 720 0 8634 2006 556 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 2 1 0 0 0 12 3 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion T G T>G 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.1125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 80.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d18483\x3bdist\x3d15194 dist\x3d18483\x3bdist\x3d15194 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0011 0.0018 0 0 0.0015 0.0014 0.0036 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs374932448 6 160132849 T C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132849 160132849 Chr6(GRCh37):g.160132849T>C -18650 -18650 NM_000636.3:c.-18650A>G p.? p.? 1 147460 -18673 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 rs374932448 no no 0 0.000000 0 0.006531 0.001614 0.006349 0.009091 0.000000 0.000000 0.008527 0.012442 0.001475 0.012442 137 9 4 2 0 0 89 32 1 20978 5576 630 220 864 0 10438 2572 678 0.102190 0.000000 0.000000 0.000000 0.000000 0.000000 0.101124 0.156250 0.000000 14 0 0 0 0 0 9 5 0 109 9 4 2 0 0 71 22 1 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition A G A>G 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.3783784 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d18496\x3bdist\x3d15181 dist\x3d18496\x3bdist\x3d15181 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs374932448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0065 0.0063 0.0091 0 0.0124 0.0085 0.0015 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374932448 rs374932448 1 1538 10 1/0 0,255,255 +rs186822543 6 160133100 G C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160133100 160133100 Chr6(GRCh37):g.160133100G>C -18901 -18901 NM_000636.3:c.-18901C>G p.? p.? 1 147460 -18924 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 21.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . 0.2011 . . . 0.22 0.08 182 ENSG00000112096 . . . dist\x3d18747\x3bdist\x3d14930 dist\x3d18747\x3bdist\x3d14930 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 160133101 G A - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160133101 160133101 Chr6(GRCh37):g.160133101G>A -18902 -18902 NM_000636.3:c.-18902C>T p.? p.? 1 147460 -18925 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 transition C T C>T 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 22.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d18748\x3bdist\x3d14929 dist\x3d18748\x3bdist\x3d14929 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs186584856 6 160543439 A G - SLC22A1 10963 Solute carrier family 22 (organic cation transporter), member 1 NM_003057.2 1 1906 1665 NP_003048.1 O15245 substitution intron GRCh37 160543439 160543439 Chr6(GRCh37):g.160543439A>G 411+61 411+61 NM_003057.2:c.411+61A>G p.? p.? 1 1 602607 61 5' 79.4649 7.30369 0.944905 5.70233 79.4649 7.30369 0.944905 5.82463 0 rs186584856 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.003424 0.000000 0.001196 0.003311 0.000000 0.000000 0.004734 0.008586 0.003061 0.008586 106 0 1 1 0 0 71 30 3 30960 8728 836 302 1622 0 14998 3494 980 0.009434 0.000000 0.000000 0.000000 0.000000 0.000000 0.014085 0.000000 0.000000 1 0 0 0 0 0 1 0 0 104 0 1 1 0 0 69 30 3 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -2.619 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0006 0.0014 . 0.002 . . . . . . 0.5294118 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.5614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.23 0.16 182 ENSG00000175003 SLC22A1 SLC22A1 . . . . . . 181 0.00278564 64976 178 0.00296736 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186584856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0034 0.0012 0.0033 0 0.0086 0.0047 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs186584856 rs186584856 1 1538 10 1/0 0,255,255 +rs200796582 6 161970057 T C - PRKN 8607 Parkin RBR E3 ubiquitin protein ligase NM_004562.2 -1 4073 1398 NP_004553.2 O60260 substitution intron GRCh37 161970057 161970057 Chr6(GRCh37):g.161970057T>C 934-22 934-22 NM_004562.2:c.934-22A>G p.? p.? 9 8 602544 -22 3' 86.0763 7.15055 0.958223 6.90284 86.0763 7.15055 0.958223 5.53446 0 rs200796582 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000000 0.004100 0.000000 0.000000 0.000000 0.000889 0.000084 0.000029 0.000000 0.000000 0.004484 0.000736 0.000194 0.001085 0.004484 246 2 1 0 0 138 93 5 7 276606 23910 34414 10132 18842 30776 126290 25790 6452 0.000029 0.000000 0.000000 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 238 2 1 0 0 130 93 5 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4406 12999 7 0 7 0.000813953 0 0.000538213 0.000813953 0 0.000538213 42 transition A G A>G 0.000 -1.005 255 PASS . . . . . . 0.0008 . . . 0.0041 . . . . . 0.525641 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . -0.2264 . . . . . . . . 9.708e-04 . . . 0 0.0012 8.679e-05 0 0 0.0007 0 0.0044 0 0.0010 8.941e-05 0 0.0002 0.0005 0.0015 0.0043 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.33 0.39 182 ENSG00000185345 PARK2 PARK2 . . . . . . 12 0.000184684 64976 8 0.000133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200796582 . . . . . . . . . . . . . . . . . . . . . . . 0.000538 . . . . . 6.588e-05 0.0009 0 0 0 0.0002 0.0007 0.0013 0.0045 0.0001 0.0005 0.0012 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs200796582 rs200796582 1 1538 10 1/0 0,255,255 +. 6 165863695 C CA - PDE10A 8772 Phosphodiesterase 10A NM_001130690.2 -1 8195 2370 NP_001124162.1 duplication intron GRCh37 165863695 165863696 Chr6(GRCh37):g.165863696dup 346+34 346+34 NM_001130690.2:c.346+34dup p.? p.? 4 4 610652 34 5' 90.5431 9.14378 0.996799 5.75509 90.5431 9.14378 0.996799 4.12176 0 rs57550533 yes no Frequency/1000G 2 0.000000 0 0.999800 1.000000 1.000000 1.000000 0.999000 1.000000 0.999958 0.999955 0.999958 1.000000 1.000000 1.000000 0.999930 1.000000 1.000000 1.000000 238092 22441 23831 8238 16088 22524 114630 25034 5306 238102 22442 23832 8238 16088 22524 114638 25034 5306 0.999916 0.999911 0.999916 1.000000 1.000000 1.000000 0.999860 1.000000 1.000000 119041 11220 11915 4119 8044 11262 57311 12517 2653 5 1 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 5 5 8254 4259 12513 0 0.00117261 0.000399425 1 0.998827 0.999601 105 T 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.94871795 . . . 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . 1. 1. 1. . . . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 0.9999 1 1 1 1.0000 1 1 1 0.9999 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000112541 PDE10A PDE10A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397732933 0.109 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1.0000 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs57550533 rs57550533 1 1538 10 1.I 0,2,2 +rs138600299 6 167184378 G A - RPS6KA2 10431 Ribosomal protein S6 kinase, 90kDa, polypeptide 2 NM_001318936.1 -1 6056 2277 NP_001305865.1 substitution synonymous exon GRCh37 167184378 167184378 Chr6(GRCh37):g.167184378G>A 147 147 NM_001318936.1:c.147C>T p.Cys49= p.Cys49Cys 3 601685 24 3' 90.9131 9.47447 0.984397 9.20343 90.9131 9.47447 0.984397 8.43541 0 Cryptic Donor Weakly Activated 167184380 67.2198 4.07321 0.240605 73.1419 rs138600299 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.001000 0.000000 0.007000 0.002900 0.005183 0.001198 0.002357 0.023200 0.000000 0.001030 0.007547 0.001811 0.004971 0.023200 1331 27 80 230 0 31 903 29 31 256782 22532 33940 9914 18394 30106 119644 16016 6236 0.000039 0.000000 0.000000 0.000605 0.000000 0.000000 0.000033 0.000000 0.000000 5 0 0 3 0 0 2 0 0 1321 27 80 224 0 31 899 29 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3950 1750 5700 32 2 34 0.00803616 0.00114155 0.00592954 0.00803616 0.00114155 0.00592954 152 transition C T C>T 0.000 -3.669 C Cys TGC 0.552 C Cys TGT 0.448 49 255 PASS . 0.0023 0.0028 . 0.01 . 0.002 0.0029 . 0.007 0.001 . RPS6KA2:uc003qvd.1:exon3:c.C147T:p.C49C . . . 0.51785713 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||RPS6KA2|mRNA|CODING|NM_001006932|) 0.0011 0.0059 0.008 0.0011 0.0059 0.008 . -0.5611 . . . . . . . . 4.865e-03 . . . 0.0014 0.0048 0.0023 0 0.0013 0.0091 0.0015 0.0012 0.0014 0.0045 0.0023 0 0.0020 0.0074 0.0015 0.0012 synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . 0.0020 . . . 0.45 0.39 182 ENSG00000071242 RPS6KA2 RPS6KA2 . . . . . . 426 0.00655627 64976 416 0.00693495 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138600299 . . . . . . . . . . . . . . . . . . . . . . . 0.005930 . . . . . 0.0012 0.0054 0.0023 0.0232 0 0.0020 0.0078 0.0055 0.0010 0.0013 0.0038 0.0036 0.0232 0 0.0011 0.0060 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs138600299 rs138600299 1 1538 10 1/0 0,255,255 +rs752323292 6 167728900 T C - UNC93A 12570 Unc-93 homolog A (C. elegans) NM_018974.3 1 2111 1374 NP_061847.2 Q86WB7 substitution missense exon GRCh37 167728900 167728900 Chr6(GRCh37):g.167728900T>C 1334 1334 NM_018974.3:c.1334T>C p.Val445Ala p.Val445Ala 8 607995 226 3' 85.6412 XI.78 0.971875 XII.53 85.6412 XI.78 0.971875 XII.53 0 rs752323292 yes no Frequency 1 C 0.000000 0 0.000451 0.000128 0.000029 0.000000 0.001260 0.000165 0.000715 0.000081 0.000000 0.001260 121 3 1 0 23 5 87 2 0 268462 23486 33994 9996 18252 30250 121610 24598 6276 0.000007 0.000000 0.000000 0.000000 0.000110 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 119 3 1 0 21 5 87 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM140578|COSM140578|COSM140578|COSM140578|COSM140578|COSM140578 Upper aerodigestive tract|Thyroid|Skin|Lung|Liver|Large intestine 0.002406|0.004016|0.000812|0.000419|0.001687|0.000448 1247|747|1232|2389|2371|2231 transition T C T>C 0.000 -1.005 V Val GTC 0.240 A Ala GCC 0.403 445 19 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.75 III.34 good 4.826E-1 0.5162 194 PASS . . . . . . . . . . . . . . . . 0.14414415 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.031 . . 111.0 . . . . . . . . . . -1.6603 -1.674 -1.660 c . . . . . 5.501e-03 . . . 0.0020 0.0029 0.0004 0.0036 0 0.0045 0.0084 0.0012 0.0007 0.0006 8.921e-05 0.0006 0.0026 0.0003 0.0029 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.045 . . exonic exonic exonic . . 0.038 @ . . . 0.33 0.36 182 ENSG00000112494 UNC93A UNC93A . . . 0.812 0.243 . . . . . . . Likely_benign . 0 . 0.017 . . . . T 0.029 0.002 . . 37 . 0.004 . . 0.438 . . . 0.014 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.035 . . . . . 0.001 . 0.008 . LowAF 0.72 rs752323292 . . . . . . . . . . . . 0.201 . . III.86 -3.95 . 0.740000 . . . . . . 0.009 . . . 0 0.0005 3.011e-05 0 0.0011 4.678e-05 0.0008 0 0.0002 0.0004 0.0004 0 0 0.0028 0.0003 0.0003 0 . . 0.340 . -0.778 -0.778000 . . 0.740000 . . 1.0E-194 0.000 0.063 . 0.016 0.000 . 0.075 . 0.032 -0.778 -1.847 . . . . . 1 1538 10 1/0 0,225,255 +rs762682220 6 167728901 C G - UNC93A 12570 Unc-93 homolog A (C. elegans) NM_018974.3 1 2111 1374 NP_061847.2 Q86WB7 substitution synonymous exon GRCh37 167728901 167728901 Chr6(GRCh37):g.167728901C>G 1335 1335 NM_018974.3:c.1335C>G p.Val445= p.Val445Val 8 607995 227 3' 85.6412 XI.78 0.971875 XII.53 85.6412 XI.78 0.971875 XII.53 0 Cryptic Donor Strongly Activated 167728898 II.06 0.135999 72.1874 5.56019 0.576063 77.7075 rs762682220 yes no Frequency 1 G 0.000000 0 0.000496 0.000169 0.000029 0.000000 0.001251 0.000165 0.000808 0.000080 0.000000 0.001251 134 4 1 0 23 5 99 2 0 270262 23604 34100 10020 18384 30352 122554 24958 6290 0.000007 0.000000 0.000000 0.000000 0.000109 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 132 4 1 0 21 5 99 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4594687|COSM4594687|COSM4594687|COSM4594687 Upper aerodigestive tract|Thyroid|Prostate|Liver 0.000802|0.001339|0.000567|0.001687 1247|747|1764|2371 transversion C G C>G 0.000 -1.812 V Val GTC 0.240 V Val GTG 0.468 445 188 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . . . . . . . . -0.3986 . . . . . . . . 5.493e-03 . . . 0.0020 0.0029 0.0004 0.0036 0 0.0045 0.0084 0.0012 0.0007 0.0006 8.917e-05 0.0006 0.0026 0.0003 0.0029 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000112494 UNC93A UNC93A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs762682220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 3.003e-05 0 0.0011 4.614e-05 0.0009 0 0.0002 0.0005 0.0005 0 0 0.0027 0.0003 0.0004 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs747901639 6 167797726 G A - TCP10 11656 T-complex 10 homolog (mouse) NM_004610.3 -1 1273 981 NP_004601.3 substitution intron GRCh37 167797726 167797726 Chr6(GRCh37):g.167797726G>A 60 60 NM_004610.3:c.-83+143C>T p.? p.? 1 1 187020 143 5' 90.6189 10.0684 0.963751 7.53123 90.6189 10.0684 0.963751 7.53123 0 rs747901639 yes no Frequency 1 G 0.000000 0 0.003624 0.006452 0.003038 0.000330 0.000450 0.004239 0.004265 0.001171 0.006112 0.006452 435 58 65 2 4 77 201 7 21 120044 8990 21398 6052 8894 18164 47132 5978 3436 0.000067 0.000000 0.000000 0.000000 0.000000 0.000220 0.000085 0.000000 0.000000 4 0 0 0 0 2 2 0 0 427 58 65 2 4 73 197 7 21 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.328 233 PASS . . . . . . . . . . . ENSG00000203690:ENST00000460930:exon1:c.C195T:p.R65R TCP10:uc003qvw.3:exon1:c.C135T:p.R45R . . . 0.25301206 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||TCP10|mRNA|CODING|NM_004610|) . . . . . . . -0.4716 . . . . . . . . 2.903e-03 . . . 0.0048 0.0098 0 0 0 0.0035 0 0.0148 0.0116 0.0106 0 0 0 0 0 0.0149 synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . @ . . . 0.07 0.07 182 ENSG00000203690 TCP10 TCP10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747901639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0083 0.0037 0.0031 0.0003 0.0004 0.0010 0.0045 0.0064 0.0042 0.0036 0.0028 0.0019 0 0.0020 0.0015 0.0028 0.0044 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs9348225 rs9348225 rs9348225 rs9348225 1 1538 10 1/0 0,249,255 +rs2983667 6 167797850 A C - TCP10 11656 T-complex 10 homolog (mouse) NM_004610.3 -1 1273 981 NP_004601.3 substitution intron GRCh37 167797850 167797850 Chr6(GRCh37):g.167797850A>C -64 -64 NM_004610.3:c.-83+19T>G p.? p.? 1 1 187020 19 5' 90.6189 10.0684 0.963751 7.53123 90.6189 10.0684 0.963751 7.87552 0 New Donor Site 167797851 0.668974 0.004167 63.9968 rs2983667 yes no Frequency/1000G 2 0.000000 0 0.003150 0.009519 0.005430 0.000261 0.007027 0.002213 0.001608 0.000471 0.005390 0.009519 445 97 120 2 58 46 96 4 22 141278 10190 22100 7672 8254 20786 59700 8494 4082 0.001543 0.002748 0.003891 0.000000 0.003392 0.001539 0.000469 0.000235 0.003430 109 14 43 0 14 16 14 1 7 227 69 34 2 30 14 68 2 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 0.125 255 PASS 0.03 0.03 0.03 0.03 0.03 . . . . . . ENSG00000203690:ENST00000460930:exon1:c.T71G:p.V24G TCP10:uc003qvw.3:exon1:c.T11G:p.V4G . . . 0.33 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.076 . @ . . . . . 2 0.043 . . 100.0 . . INTRON(MODIFIER||||TCP10|mRNA|CODING|NM_004610|) . . . . . . . -0.8972 -1.106 -0.897 c . . . . . 8.017e-03 . . . 0.0043 0.0007 0.0058 0 0 0.0006 0 0.0004 0 0.0005 0.0076 0 0 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV . 0.377 . . exonic exonic intronic . . 0.214 @ . . . 0.21 0.1 182 ENSG00000203690 TCP10 TCP10 . . . 0.001 0.077 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.180 . . 0.254 . . . . 0.090 . . . . . . . . . . . . . . . 0.010 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . 0.132 . 0.025 . HET . rs2983667 0.152 0.123 . . . . . 0.03021978021978022 0.034552845528455285 0.03314917127071823 0.026223776223776224 0.029023746701846966 IV.06 . ENST00000460930 I.42 I.42 . 0.000000 . . . . . . 0.002 . . . 0.0079 0.0027 0.0055 0.0001 0.0059 0.0004 0.0012 0.0051 0.0022 0.0109 0.0054 0.0045 0.0039 0.0159 0.0007 0.0032 0.0064 . . 0.133 . 0.184 0.184000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.045 . 0.108 0.184 -0.196 0.15 rs2983667 rs2983667 rs2983667 rs141919804 1 1538 10 1/0 0,246,255 +rs767918339 (chr6:168688080 A/G) 6 168688080 A G No Alamut gene - other known genes: CTAGE13P CTAGE13P +. (chr6:168688103 A/T) 6 168688103 A T No Alamut gene - other known genes: CTAGE13P CTAGE13P +rs73043846 6 169619925 C T - THBS2 11786 Thrombospondin 2 NM_003247.3 -1 5881 3519 NP_003238.2 P35442 substitution intron GRCh37 169619925 169619925 Chr6(GRCh37):g.169619925C>T 3511+368 3511+368 NM_003247.3:c.3511+368G>A p.? p.? 22 22 188061 368 5' 92.583 10.0326 0.992039 7.88321 92.583 10.0326 0.992039 7.88321 0 rs73043846 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.024 -0.037 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||THBS2|mRNA|CODING|NM_003247|) . . . . . . . -0.0223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.17 0.1 182 ENSG00000226445 THBS2 THBS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73043846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs73043846 rs73043846 rs73043846 1 1538 10 1/0 0,255,255 +rs10945403 6 169619933 T C - THBS2 11786 Thrombospondin 2 NM_003247.3 -1 5881 3519 NP_003238.2 P35442 substitution intron GRCh37 169619933 169619933 Chr6(GRCh37):g.169619933T>C 3511+360 3511+360 NM_003247.3:c.3511+360A>G p.? p.? 22 22 188061 360 5' 92.583 10.0326 0.992039 7.88321 92.583 10.0326 0.992039 7.88321 0 rs10945403 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.004500 0.004100 0.006000 0.001000 0.001400 0.000557 0.000582 0.000000 0.000000 0.006901 0.000000 0.000000 0.000000 0.001037 0.006901 17 5 0 0 11 0 0 0 1 30512 8596 824 300 1594 0 14754 3480 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition A G A>G 0.000 -0.602 218 PASS . . . . . 0.0045 0.0036 0.0014 0.006 0.001 0.0041 . . . . . 0.21052632 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||THBS2|mRNA|CODING|NM_003247|) . . . . . . . -0.2785 . . . . . . . . 6.243e-04 . . . 0.0006 0.0007 0 0.0070 0 0 0 0.0011 0.0006 0.0006 0 0.0052 0 0 0 0.0011 . . . . . . ncRNA_intronic intronic intronic . . . 0.0036 . . . 0.16 0.17 182 ENSG00000226445 THBS2 THBS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10945403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0006 0 0 0.0069 0 0 0.0010 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . rs10945403 rs10945403 rs10945403 rs10945403 1 1538 10 1/0 0,255,255 +rs188768797 6 170844582 G T - PSMB1 9537 Proteasome (prosome, macropain) subunit, beta type, 1 NM_002793.3 -1 917 726 NP_002784.1 P20618 substitution intron GRCh37 170844582 170844582 Chr6(GRCh37):g.170844582G>T 541-89 541-89 NM_002793.3:c.541-89C>A p.? p.? 6 5 602017 -89 3' 83.2714 7.86311 0.852282 8.53594 83.2714 7.86311 0.852282 8.53594 0 New Acceptor Site 170844580 1.88255 0.031693 60.0408 170844579 -20.2941 rs188768797 yes no Frequency/1000G 2 G 0.000000 0 0.001711 0.000115 0.000000 0.003311 0.000000 0.000000 0.002865 0.001145 0.004073 0.003311 53 1 0 1 0 0 43 4 4 30974 8730 836 302 1622 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 1 0 1 0 0 43 4 4 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.000 -2.135 255 PASS . 0.0005 . . 0.0013 . . . . . . . . . . . 0.5588235 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||PSMB1|mRNA|CODING|NM_002793|) . . . . . . . -0.2692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.17 182 ENSG00000008018 PSMB1 PSMB1 . . . . . . 54 0.000831076 64976 53 0.000883539 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188768797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0017 0 0.0033 0 0.0011 0.0029 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs188768797 rs188768797 1 1538 10 1/0 0,255,255 +. (chr6:171054844 G/T) 6 171054844 G T Not on a known gene +rs866585381 (chr7:19834 C/G) 7 19834 C G Not on a known gene +rs375542585 7 540736 C T - PDGFA 8799 Platelet-derived growth factor alpha polypeptide NM_002607.5 -1 2809 636 NP_002598.4 P04085 substitution intron GRCh37 540736 540736 Chr7(GRCh37):g.540736C>T 580+17 580+17 NM_002607.5:c.580+17G>A p.? p.? 5 5 173430 17 5' 86.6769 9.89081 0.982942 9.75772 86.6769 9.89081 0.982942 IX.92 0 rs375542585 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001284 0.000458 0.000203 0.000296 0.000000 0.000130 0.002392 0.000737 0.001392 0.002392 356 11 7 3 0 4 303 19 9 277190 24038 34420 10152 18870 30782 126684 25780 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 354 11 7 3 0 4 301 19 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4405 12987 10 1 11 0.00116387 0.000226963 0.000846284 0.00116387 0.000226963 0.000846284 166 transition G A G>A 0.000 -3.265 255 PASS . . . . . . 0.0002 . . 0.001 . . PDGFA:uc003sit.1:exon3:c.G639A:p.S213S . . . 0.5169082 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 207.0 . . . 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . -0.6264 . . . . . . . . 1.492e-03 . . . 0.0006 0.0009 0 0 0.0008 0.0016 0 0.0002 0.0007 0.0015 0 0 0.0011 0.0027 0 0.0002 . synonymous_SNV . . . . intronic exonic intronic . . . 0.0002 . . . 0.21 0.14 182 ENSG00000197461 PDGFA PDGFA . . . . . . 91 0.00140052 64976 90 0.00150035 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375542585 . . . . . . . . . . . . . . . . . . . . . . . 0.000846 . . . . . 0.0005 0.0013 0.0002 0.0003 0 0.0006 0.0024 0.0011 0.0001 0.0005 0.0014 0 0 0 0.0014 0.0021 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs375542585 rs375542585 1 1538 10 1/0 0,228,241 +. 7 801634 T TTGAGCCCCAGGCCTCAAACATGTC - DNAAF5 26013 Dynein, axonemal, assembly factor 5 NM_017802.3 1 3414 2568 NP_060272.3 Q86Y56 insertion intron GRCh37 801637 801638 Chr7(GRCh37):g.801637_801638insGCCCCAGGCCTCAAACATGTCTGA 1614+104 1614+105 NM_017802.3:c.1614+104_1614+105insGCCCCAGGCCTCAAACATGTCTGA p.? p.? 7 7 614864 104 5' 94.6745 X.23 0.998781 8.18449 94.6745 X.23 0.998781 8.18449 0 rs142752861 yes no Frequency/1000G 2 0.000000 0 0.824681 0.860800 0.894700 0.724200 0.828000 0.798300 GCCCCAGGCCTCAAACATGTCTGA 255 Pass . . . . . . . . . . . . . . . . 0.2580645 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000164818 HEATR2 DNAAF5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142752861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,59 +rs4722203 7 926827 T C - GET4 21690 Golgi to ER traffic protein 4 homolog (S. cerevisiae) NM_015949.2 1 2088 984 NP_057033.2 Q7L5D6 substitution intron GRCh37 926827 926827 Chr7(GRCh37):g.926827T>C 317-180 317-180 NM_015949.2:c.317-180T>C p.? p.? 4 3 612056 -180 3' 85.8256 7.59937 0.29011 5.83966 85.8256 7.59937 0.29011 5.83966 0 rs4722203 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999966 0.999951 1.000000 1.000000 1.000000 1.000000 0.999932 1.000000 1.000000 1.000000 236950 20577 29774 9354 16222 28254 103401 23536 5832 236958 20578 29774 9354 16222 28254 103408 23536 5832 0.999932 0.999903 1.000000 1.000000 1.000000 1.000000 0.999865 1.000000 1.000000 118471 10288 14887 4677 8111 14127 51697 11768 2916 8 1 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.279 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. ENSG00000239857:ENST00000426056:exon1:c.T132C:p.H44H . . . . 1.0 . . @ 132 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||GET4|mRNA|CODING|NM_015949|) . . . . . . . 0.5247 . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 0.9999 1 1 1 1.0000 1 1 1 0.9999 1 1 synonymous_SNV . . . . . exonic intronic intronic . . . 0.0000 . . . 0.24 0.05 182 ENSG00000239857 GET4 GET4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs4722203 0.848 0.899 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs4722203 rs4722203 rs4722203 rs4722203 1 1538 255 1.I 0,0,255 +rs561981177 7 1477775 G A - MICALL2 29672 MICAL-like 2 NM_182924.3 -1 3099 2715 NP_891554.1 Q8IY33 substitution missense exon GRCh37 1477775 1477775 Chr7(GRCh37):g.1477775G>A 2269 2269 NM_182924.3:c.2269C>T p.Arg757Cys p.Arg757Cys 12 -43 5' 86.8044 8.70331 0.909569 14.2375 86.8044 8.70331 0.909569 14.031 0 Domain of unknown function DUF3585 rs561981177 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000118 0.000059 0.000039 0.000000 0.000000 0.000127 0.000186 0.000106 0.000205 0.000186 22 1 1 0 0 3 14 2 1 187012 16858 25902 8534 13122 23688 75082 18954 4872 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 1 1 0 0 3 14 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.008 -0.117 R Arg CGC 0.190 C Cys TGC 0.552 757 11 7 Dog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C35 56.64 154.23 Deleterious 0 III.38 bad 1.255E-4 0.001415 255 PASS . . . . . . 0.0002 0.0014 . . . . . MICALL2:NM_182924:exon12:c.C2269T:p.R757C . . 0.5555556 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.647 . @ . . . . . 1 0.855 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R757C|MICALL2|mRNA|CODING|NM_182924|NM_182924.ex.12) . . . . . . . -0.2485 -0.525 -0.248 c . . . . . 8.379e-05 . . . 0 0.0002 0 0 0 0.0003 0 0.0001 0 0.0002 0 0 0 0.0003 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.496 . . exonic exonic exonic . . 0.133 0.0002 . . . . . . ENSG00000164877 MICALL2 MICALL2 . . . 0.735 0.231 . . . . . . . Uncertain_significance . 0 . 0.093 . . . . D 0.868 0.202 . . 37 . 0.661 . . 0.588 . . . 0.837 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.816 . . 0 0 0 0 0 0 . 0.899 . . 0.713 . . . . . . 0 0.784 . . . . . 0.565 . 0.378 . HET 0 rs561981177 . . . . . . . . . . . . XII.94 0.0 . III.95 -0.0123 . 0.000000 . . . . . . 0.099 . . . 0.0001 0.0001 3.99e-05 0 0 0.0001 0.0001 0.0003 0.0001 0 0.0002 0 0 0 0 0.0003 0 . . 0.450 . -0.178 -0.178000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.255 0.465 . 0.098 . 0.108 -0.178 0.035 . . . . . 1 1538 10 1/0 0,255,255 +rs78793025 7 1528945 C A - INTS1 24555 Integrator complex subunit 1 NM_001080453.2 -1 6974 6573 NP_001073922.2 Q8N201 substitution intron GRCh37 1528945 1528945 Chr7(GRCh37):g.1528945C>A 2318+35 2318+35 NM_001080453.2:c.2318+35G>T p.? p.? 18 18 611345 35 5' 83.5016 9.09532 0.97749 11.0363 83.5016 9.09532 0.97749 X.12 0 rs78793025 no no 0 C 0.000000 0 0.000017 0.000000 0.000048 0.000000 0.000000 0.000000 0.000022 0.000000 0.000000 0.000048 2 0 1 0 0 0 1 0 0 117654 6288 20790 6270 8956 18402 44964 8830 3154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 90 Exomes transversion G T G>T 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.3740458 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . INTRON(MODIFIER||||INTS1|mRNA|CODING|NM_001080453|) . . . . . . . -0.4719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.06 0.09 182 ENSG00000164880 INTS1 INTS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78793025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.7e-05 4.81e-05 0 0 0 2.224e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78793025 rs78793025 1 1538 10 1/0 0,238,255 +rs80163046 7 1528946 A G - INTS1 24555 Integrator complex subunit 1 NM_001080453.2 -1 6974 6573 NP_001073922.2 Q8N201 substitution intron GRCh37 1528946 1528946 Chr7(GRCh37):g.1528946A>G 2318+34 2318+34 NM_001080453.2:c.2318+34T>C p.? p.? 18 18 611345 34 5' 83.5016 9.09532 0.97749 11.0363 83.5016 9.09532 0.97749 10.931 0 rs80163046 no no 0 A 0.000000 0 0.000490 0.000000 0.002336 0.000000 0.000000 0.000000 0.000467 0.000000 0.000000 0.002336 2 0 1 0 0 0 1 0 0 4084 228 428 142 238 446 2142 372 88 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 2655 Exomes transition T C T>C 0.000 -2.135 255 PASS . . . . . . . . . . . . . . . . 0.46212122 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||INTS1|mRNA|CODING|NM_001080453|) . . . . . . . -0.3791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.07 0.12 182 ENSG00000164880 INTS1 INTS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80163046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0023 0 0 0 0.0005 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80163046 rs80163046 1 1538 10 1/0 0,244,255 +rs79178284 7 1528947 T C - INTS1 24555 Integrator complex subunit 1 NM_001080453.2 -1 6974 6573 NP_001073922.2 Q8N201 substitution intron GRCh37 1528947 1528947 Chr7(GRCh37):g.1528947T>C 2318+33 2318+33 NM_001080453.2:c.2318+33A>G p.? p.? 18 18 611345 33 5' 83.5016 9.09532 0.97749 11.0363 83.5016 9.09532 0.97749 XI.26 0 rs79178284 yes no Frequency/1000G 2 T 0.000000 0 transition A G A>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.43165466 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||INTS1|mRNA|CODING|NM_001080453|) . . . . . . . 0.0634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.07 182 ENSG00000164880 INTS1 INTS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79178284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79178284 rs79178284 1 1538 10 1/0 0,241,255 +rs373942205 7 1586752 C T - TMEM184A 28797 Transmembrane protein 184A NM_001097620.1 -1 6276 1242 NP_001091089.1 Q6ZMB5 substitution missense exon GRCh37 1586752 1586752 Chr7(GRCh37):g.1586752C>T 1078 1078 NM_001097620.1:c.1078G>A p.Val360Met p.Val360Met 9 66 3' 76.0836 7.03507 0.578218 IV.55 76.0836 7.03507 0.578218 4.456 0 rs373942205 yes no Frequency 1 C 0.000000 0 0.000071 0.000000 0.000060 0.000103 0.000000 0.000000 0.000121 0.000048 0.000000 0.000121 17 0 2 1 0 0 13 1 0 240036 15034 33490 9728 17176 30724 107832 20678 5374 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 2 1 0 0 13 1 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes 8598 4400 12998 2 0 2 0.000232558 0 0.000153846 0.000232558 0 0.000153846 42 transition G A G>A 1.000 6.016 V Val GTG 0.468 M Met ATG 1.000 360 12 9 Tetraodon 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 28.68 0.00 Tolerated 0.3 III.36 good 7.385E-2 0.02138 255 PASS . . . . . . . . . . . ENSG00000164855:ENST00000297477:exon9:c.G1078A:p.V360M . TMEM184A:NM_001097620:exon9:c.G1078A:p.V360M . . 0.38235295 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.738 . @ . . . . . 1 0.884 . . 68.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.3723 0.455 0.372 c . . . . . 7.934e-05 . . . 0 5.767e-05 0 0 0 0.0001 0 0 0 8.626e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.803 @ . . . 0.41 0.41 182 ENSG00000164855 TMEM184A TMEM184A . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.528 0.030 . . 37 . 0.356 . . 0.051 . . . 0.311 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.037 . . 0 0 0 0 0 0 . 0.470 . . 0.424 . . . . . . 1 0.121 . . . . . 0.941 . 0.728 . HET 0.37 rs373942205 . . . . . . . . . . . . 19.3072 0.0 ENST00000297477 V.47 V.47 . 0.400000 Q6ZMB5 . . . 0.000154 . 0.567 . . V.47 0 7.082e-05 5.972e-05 0.0001 0 4.836e-05 0.0001 0 0 . . . . . . . . . . 0.326 . 2.566 2.566000 . . 0.400000 . . 1.0E-255 1.000 0.715 . 0.544 0.992 . 0.693 . 0.434 2.566 0.868 0.0002 . . rs373942205 rs373942205 1 1538 10 1/0 0,255,255 +rs7778352 7 2582153 C T - BRAT1 21701 BRCA1 associated ATM activator 1 NM_001350626.1 -1 3193 2646 NP_001337555.1 substitution intron GRCh37 2582153 2582153 Chr7(GRCh37):g.2582153C>T 924-308 924-308 NM_001350626.1:c.924-308G>A p.? p.? 7 6 614506 -308 3' 82.4102 7.09518 0.744802 0 82.4102 7.09518 0.744802 0 0 rs7778352 yes no Frequency/1000G 2 C 0.000000 0 0.000065 0.000116 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000116 2 1 0 0 0 0 1 0 0 30750 8646 838 302 1620 0 14884 3486 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.055 0.448 254 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||BRAT1|mRNA|CODING|NM_152743|) . . . . . . . -0.1713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5\x3bUTR3 intronic . . . @ . . . 0.23 0.07 182 ENSG00000106009 BRAT1\x3bBRAT1 BRAT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs7778352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.504e-05 0 0 0 0 6.719e-05 0 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . rs7778352 rs7778352 rs7778352 rs7778352 1 1538 10 1/0 0,233,255 +rs147708291 7 5172096 T C - ZNF890P 38691 Zinc finger protein 890, pseudogene NR_034163.1 -1 1614 0 substitution exon GRCh37 5172096 5172096 Chr7(GRCh37):g.5172096T>C 460 460 NR_034163.1:n.460A>G 3 -18 5' 95.6376 X.36 0.995285 8.19232 95.6376 X.36 0.995285 8.41435 0 rs147708291 yes no Frequency/1000G 2 C 0.000000 0 0.339257 0.437200 0.446800 0.170600 0.302200 0.299700 transition A G A>G 0.000 -0.602 255 PASS . . . . . 0.44 0.34 0.3 0.17 0.3 0.45 . ZNF890P:uc010ksu.1:exon1:c.A41G:p.K14R . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 21.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R154G|ZNF890P|Non-coding_transcript|NON_CODING|NR_034163|NR_034163.ex.3) . . . . . . . -0.4015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.3393 . . . 0.38 0.34 182 ENSG00000159904 ZNF890P ZNF890P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147708291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs147708291 rs147708291 1 1538 10 1/0 0,255,255 +rs149016496 7 5172098 C T - ZNF890P 38691 Zinc finger protein 890, pseudogene NR_034163.1 -1 1614 0 substitution exon GRCh37 5172098 5172098 Chr7(GRCh37):g.5172098C>T 458 458 NR_034163.1:n.458G>A 3 -20 5' 95.6376 X.36 0.995285 8.19232 95.6376 X.36 0.995285 7.89391 0 rs149016496 yes no Frequency/1000G 2 T 0.000000 0 0.339257 0.437200 0.446800 0.170600 0.302200 0.299700 transition G A G>A 0.000 -0.763 255 PASS . . . . . 0.44 0.34 0.3 0.17 0.3 0.45 . ZNF890P:uc010ksu.1:exon1:c.G39A:p.E13E . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 21.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R153K|ZNF890P|Non-coding_transcript|NON_CODING|NR_034163|NR_034163.ex.3) . . . . . . . -0.3614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.3393 . . . 0.29 0.24 182 ENSG00000159904 ZNF890P ZNF890P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149016496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149016496 rs149016496 1 1538 10 1/0 0,255,255 +rs141199192 7 5172099 T G - ZNF890P 38691 Zinc finger protein 890, pseudogene NR_034163.1 -1 1614 0 substitution exon GRCh37 5172099 5172099 Chr7(GRCh37):g.5172099T>G 457 457 NR_034163.1:n.457A>C 3 -21 5' 95.6376 X.36 0.995285 8.19232 95.6376 X.36 0.995285 8.41566 0 rs141199192 yes no Frequency/1000G 2 G 0.000000 0 0.339257 0.437200 0.446800 0.170600 0.302200 0.299700 transversion A C A>C 0.000 -0.117 255 PASS . . . . . 0.44 0.34 0.3 0.17 0.3 0.45 . ZNF890P:uc010ksu.1:exon1:c.A38C:p.E13A . . . 0.4090909 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . SYNONYMOUS_CODING(LOW|SILENT|Aga/Cga|R153|ZNF890P|Non-coding_transcript|NON_CODING|NR_034163|NR_034163.ex.3) . . . . . . . -0.2462 . . . . . . . . 5.901e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.3393 . . . 0.41 0.36 182 ENSG00000159904 ZNF890P ZNF890P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141199192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141199192 rs141199192 1 1538 10 1/0 0,255,255 +rs765534703 7 5399082 C A - TNRC18 11962 Trinucleotide repeat containing 18 NM_001080495.2 -1 10572 8907 NP_001073964.2 O15417 substitution missense exon GRCh37 5399082 5399082 Chr7(GRCh37):g.5399082C>A 4780 4780 NM_001080495.2:c.4780G>T p.Gly1594Trp p.Gly1594Trp 15 -54 5' 95.6376 X.36 0.995518 X.27 95.6376 X.36 0.995518 X.17 0 New Donor Site 5399084 2.57415 0.099743 68.3867 rs765534703 yes no Frequency 1 C 0.000000 0 0.000339 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.003373 0.000155 0.003373 94 0 0 0 0 0 6 87 1 277214 24018 34420 10152 18868 30782 126726 25792 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 94 0 0 0 0 0 6 87 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.992 1.981 G Gly GGG 0.250 W Trp TGG 1.000 1594 11 7 Platypus -2 -2 -6 0.74 0.13 9 5.IV 3 170 184 C0 242.39 77.87 Deleterious 0.01 III.54 good 5.318E-2 0.1934 255 PASS . . . . . . . . . . . . TNRC18:uc003soi.4:exon15:c.G4780T:p.G1594W TNRC18:NM_001080495:exon15:c.G4780T:p.G1594W . . 0.4920635 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.761 . @ . . . . . 1 0.755 . . 63.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Tgg|G1594W|TNRC18|mRNA|CODING|NM_001080495|NM_001080495.ex.15) . . . . . . . 0.4509 0.394 0.451 c . . . . . 2.475e-04 . . . 0 0.0002 0 0 0.0045 2.373e-05 0 0 0 0.0002 0 0 0.0033 5.52e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.481 . . exonic exonic exonic . . 0.572 @ . . . . . . ENSG00000182095 TNRC18 TNRC18 . . . 0.977 0.298 . 17 0.000261635 64976 16 0.000266729 59986 Uncertain_significance . 0 . 0.290 . . . . D 0.569 0.036 . . 37 . 0.615 . . 0.570 . . . 0.450 0.245 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.805 . . 0 0 0 0 0 0 . 0.647 . . 0.627 . . . . . . 0 0.784 . . . . . 0.512 . 0.415 . HET 0 rs765534703 . . . . . . . . . . . . XI.32 . . V.53 IV.64 . 0.000000 O15417 . . . . . 0.562 . . IV.64 0 0.0004 0 0 0 0.0038 3.581e-05 0.0002 0 0 0.0002 0 0 0 0.0009 0.0001 0 . . 0.730 . 1.304 1.304000 . . 0.000000 . . 1.0E-255 0.999 0.424 . 0.494 0.141 . 0.405 . 0.182 1.304 0.008 . . . . . 1 1538 10 1/0 0,255,255 +rs76586797 7 5402556 C A - TNRC18 11962 Trinucleotide repeat containing 18 NM_001080495.2 -1 10572 8907 NP_001073964.2 O15417 substitution intron GRCh37 5402556 5402556 Chr7(GRCh37):g.5402556C>A 4220-100 4220-100 NM_001080495.2:c.4220-100G>T p.? p.? 12 11 -100 3' 83.7957 XI.26 0.976078 XII.24 83.7957 XI.26 0.976078 XII.24 0 rs76586797 yes no Frequency/1000G 2 C 0.000000 0 0.019768 0.000000 0.005100 0.089300 0.003000 0.001400 0.006102 0.000229 0.000000 0.000000 0.085909 0.000000 0.002599 0.001718 0.003055 0.085909 189 2 0 0 139 0 39 6 3 30974 8734 838 302 1618 0 15008 3492 982 0.031746 0.000000 0.000000 0.000000 0.043165 0.000000 0.000000 0.000000 0.000000 6 0 0 0 6 0 0 0 0 177 2 0 0 127 0 39 6 3 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transversion G T G>T 0.000 -1.974 233 PASS . 0.03 0.01 0.1 0.0013 . 0.02 0.0014 0.089 0.003 0.0051 . . . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . INTRON(MODIFIER||||TNRC18|mRNA|CODING|NM_001080495|) . . . . . . . -0.4851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0198 . . . 0.26 0.11 182 ENSG00000182095 TNRC18 TNRC18 . . . . . . 189 0.00290877 64976 96 0.00160037 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76586797 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0061 0 0 0.0859 0.0017 0.0026 0.0031 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . 0.1 . . rs76586797 rs76586797 1 1538 10 1/0 0,255,255 +rs77641055 7 5434011 C T - TNRC18 11962 Trinucleotide repeat containing 18 NM_001080495.2 -1 10572 8907 NP_001073964.2 O15417 substitution intron GRCh37 5434011 5434011 Chr7(GRCh37):g.5434011C>T 343+60 343+60 NM_001080495.2:c.343+60G>A p.? p.? 3 3 60 5' 94.6745 X.23 0.997987 XII.66 94.6745 X.23 0.997987 XII.11 0 rs77641055 yes no Frequency/1000G 2 C 0.000000 0 0.029553 0.000000 0.007200 0.135900 0.003000 0.001400 0.009119 0.000803 0.001193 0.000000 0.136757 0.000000 0.002938 0.002003 0.002041 0.136757 282 7 1 0 221 0 44 7 2 30926 8718 838 302 1616 0 14978 3494 980 0.063830 0.000000 0.000000 0.000000 0.081448 0.000000 0.000000 0.000000 0.000000 18 0 0 0 18 0 0 0 0 246 7 1 0 185 0 44 7 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 0.851 255 PASS . 0.04 . 0.16 0.004 . 0.03 0.0014 0.14 0.003 0.0072 . . . . . 0.5 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||TNRC18|mRNA|CODING|NM_001080495|) . . . . . . . 0.2342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0296 . . . 0.25 0.25 182 ENSG00000182095 TNRC18 TNRC18 . . . . . . 269 0.00413999 64976 122 0.00203381 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77641055 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . II.19 . . . . . . . . . 0.0008 0.0091 0.0012 0 0.1368 0.0020 0.0029 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs77641055 rs77641055 1 1538 10 1/0 0,255,255 +rs199575986 7 5569082 G A - ACTB 132 Actin beta NM_001101.4 -1 1922 1128 NP_001092.1 P60709 substitution intron GRCh37 5569082 5569082 Chr7(GRCh37):g.5569082G>A 124-51 124-51 NM_001101.4:c.124-51C>T p.? p.? 3 2 102630 -51 3' 90.9436 XI.22 0.987639 X.92 90.9436 XI.22 0.987639 X.54 0 rs199575986 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000471 0.000000 0.000029 0.000395 0.000743 0.000000 0.000190 0.003334 0.000155 0.003334 130 0 1 4 14 0 24 86 1 276298 23880 34404 10118 18854 30778 126022 25792 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 130 0 1 4 14 0 24 86 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -2.942 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.597561 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.1534 . . . . . . . . 3.870e-04 . . . 0.0001 0.0003 8.663e-05 0.0009 0.0042 0.0002 0 0 0 0.0004 8.921e-05 0.0009 0.0032 0.0002 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.34 0.28 182 ENSG00000075624 ACTB ACTB . . . . . . 21 0.000323196 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199575986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 2.979e-05 0.0004 0.0008 0.0037 0.0001 0.0002 0 0 0.0004 0 0 0 0.0009 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199575986 rs199575986 1 1538 10 1/0 0,255,255 +rs570729626 7 5751301 G A - MIR6874 50146 MicroRNA 6874 NR_106934.1 -1 71 0 substitution downstream GRCh37 5751301 5751301 Chr7(GRCh37):g.5751301G>A *170 *170 NR_106934.1:n.*170C>T p.? p.? 1 rs570729626 yes no Frequency/1000G 2 G 0.000799 A 4 0.000799 0.000000 0.002000 0.000000 0.002000 0.000000 0.000258 0.000000 0.000000 0.000000 0.000000 0.000000 0.000266 0.000859 0.001018 0.000859 8 0 0 0 0 0 4 3 1 30976 8730 838 302 1620 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 4 3 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.924 242 PASS . . . . . . 0.0008 . . 0.002 0.002 . . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.1374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . . . . ENSG00000011275 RNF216 RNF216 . . . . . . 21 0.000323196 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs570729626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0.0009 0.0003 0.0010 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs570729626 7 5751301 G A - RNF216 21698 Ring finger protein 216 NM_207111.3 -1 5850 2772 NP_996994.1 substitution intron GRCh37 5751301 5751301 Chr7(GRCh37):g.5751301G>A 2061+91 2061+91 NM_207111.3:c.2061+91C>T p.? p.? 13 13 609948 91 5' 84.5939 VIII.53 0.935654 3.65061 84.5939 VIII.53 0.935654 3.65061 0 rs570729626 yes no Frequency/1000G 2 G 0.000799 A 4 0.000799 0.000000 0.002000 0.000000 0.002000 0.000000 0.000258 0.000000 0.000000 0.000000 0.000000 0.000000 0.000266 0.000859 0.001018 0.000859 8 0 0 0 0 0 4 3 1 30976 8730 838 302 1620 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 4 3 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.924 242 PASS . . . . . . 0.0008 . . 0.002 0.002 . . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.1374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . . . . ENSG00000011275 RNF216 RNF216 . . . . . . 21 0.000323196 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs570729626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0.0009 0.0003 0.0010 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2711245 (chr7:5998609 G/A) 7 5998609 G A Not on a known gene +rs200394640 7 6820999 G A - RSPH10B 27362 Radial spoke head 10 homolog B (Chlamydomonas) NM_173565.3 1 3106 2613 NP_775836.3 P0C881 substitution missense exon GRCh37 6820999 6820999 Chr7(GRCh37):g.6820999G>A 1650 1650 NM_173565.3:c.1650G>A p.Met550Ile p.Met550Ile 15 41 3' 84.5141 6.28343 0.74904 3.77551 84.5141 6.28343 0.74904 3.13554 0 Cryptic Acceptor Strongly Activated 6821002 3.7e-05 70.3724 1.18273 0.00332 71.227 rs200394640 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.003000 0.004100 0.006000 0.006000 0.007200 0.000993 0.001184 0.001175 0.000168 0.000074 0.001109 0.000964 0.001303 0.002215 0.001303 185 20 22 1 1 15 89 27 10 186224 16890 18728 5938 13588 13524 92326 20716 4514 0.000516 0.000829 0.000534 0.000000 0.000000 0.000739 0.000498 0.000483 0.001329 48 7 5 0 0 5 23 5 3 89 6 12 1 1 5 43 17 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3774295|COSM3774295|COSM3774296|COSM3774296 Kidney|Haematopoietic and lymphoid tissue|Kidney|Haematopoietic and lymphoid tissue 0.000578|0.000283|0.000578|0.000283 1729|3530|1729|3530 transition G A G>A 0.787 1.174 M Met ATG 1.000 I Ile ATA 0.163 550 11 7 Chicken 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.22 III.43 good 8.996E-2 0.0003369 188 PASS 0.05 0.07 0.08 0.04 0.11 0.003 0.005 0.0072 0.006 0.006 0.0041 . . . . . 0.13114753 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.167 . @ . . . . . 1 0.081 . . 122.0 . . . . . . . . . . -0.4812 -0.474 -0.481 c . . . . . 1.237e-03 . . . 0.0013 0.0015 0.0022 0 0.0017 0.0016 0 0.0013 0.0016 0.0013 0.0022 0 0.0018 0.0013 0 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.524 . . exonic exonic exonic . . 0.376 0.0050 . . . 0.35 0.69 182 ENSG00000169402 RSPH10B2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.441 . . . . T 0.085 0.004 . . 37 . 0.009 . . 0.028 . . . 0.498 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.222 . . 0.173 . . . . . . 0 0.312 . . . . . 0.303 . 0.378 . LowAF 0.19 rs200394640 . . . . . . . 0.07417582417582418 0.052845528455284556 0.08287292817679558 0.04020979020979021 0.10949868073878628 8.1868 0.001068 . III.38 III.38 . 0.150000 . . . . . . 0.335 . . III.38 0.0010 0.0010 0.0012 0.0002 7.963e-05 0.0013 0.0011 0.0024 0.0011 0.0015 0.0008 0 0 0 0.0014 0.0003 0.0014 . . 0.133 . 1.928 1.928000 . . 0.150000 . . 1.0E-188 0.909 0.314 . 0.214 0.678 . 0.218 . 0.296 1.928 0.609 0.11 rs17853305 rs17853305 rs17853305 rs17853305 1 1538 10 1/0 0,220,255 +rs200394640 7 6820999 G A - RSPH10B2 34385 Radial spoke head 10 homolog B2 (Chlamydomonas) NM_001099697.1 1 3106 2613 NP_001093167.1 B2RC85 substitution missense exon GRCh37 6820999 6820999 Chr7(GRCh37):g.6820999G>A 1650 1650 NM_001099697.1:c.1650G>A p.Met550Ile p.Met550Ile 15 41 3' 84.5141 6.28343 0.74904 3.77551 84.5141 6.28343 0.74904 3.13554 0 Cryptic Acceptor Strongly Activated 6821002 3.7e-05 70.3724 1.18273 0.00332 71.227 rs200394640 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.003000 0.004100 0.006000 0.006000 0.007200 0.000993 0.001184 0.001175 0.000168 0.000074 0.001109 0.000964 0.001303 0.002215 0.001303 185 20 22 1 1 15 89 27 10 186224 16890 18728 5938 13588 13524 92326 20716 4514 0.000516 0.000829 0.000534 0.000000 0.000000 0.000739 0.000498 0.000483 0.001329 48 7 5 0 0 5 23 5 3 89 6 12 1 1 5 43 17 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3774295|COSM3774295|COSM3774296|COSM3774296 Kidney|Haematopoietic and lymphoid tissue|Kidney|Haematopoietic and lymphoid tissue 0.000578|0.000283|0.000578|0.000283 1729|3530|1729|3530 transition G A G>A 0.787 1.174 M Met ATG 1.000 I Ile ATA 0.163 550 12 8 Chicken 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.21 III.44 good 1.041E-1 0.0003461 188 PASS 0.05 0.07 0.08 0.04 0.11 0.003 0.005 0.0072 0.006 0.006 0.0041 . . . . . 0.13114753 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.167 . @ . . . . . 1 0.081 . . 122.0 . . . . . . . . . . -0.4812 -0.474 -0.481 c . . . . . 1.237e-03 . . . 0.0013 0.0015 0.0022 0 0.0017 0.0016 0 0.0013 0.0016 0.0013 0.0022 0 0.0018 0.0013 0 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.524 . . exonic exonic exonic . . 0.376 0.0050 . . . 0.35 0.69 182 ENSG00000169402 RSPH10B2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.441 . . . . T 0.085 0.004 . . 37 . 0.009 . . 0.028 . . . 0.498 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.222 . . 0.173 . . . . . . 0 0.312 . . . . . 0.303 . 0.378 . LowAF 0.19 rs200394640 . . . . . . . 0.07417582417582418 0.052845528455284556 0.08287292817679558 0.04020979020979021 0.10949868073878628 8.1868 0.001068 . III.38 III.38 . 0.150000 . . . . . . 0.335 . . III.38 0.0010 0.0010 0.0012 0.0002 7.963e-05 0.0013 0.0011 0.0024 0.0011 0.0015 0.0008 0 0 0 0.0014 0.0003 0.0014 . . 0.133 . 1.928 1.928000 . . 0.150000 . . 1.0E-188 0.909 0.314 . 0.214 0.678 . 0.218 . 0.296 1.928 0.609 0.11 rs17853305 rs17853305 rs17853305 rs17853305 1 1538 10 1/0 0,220,255 +rs201457485 7 6838885 C T - CCZ1B 21717 CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) NM_198097.3 -1 1836 1449 NP_932765.1 P86791 substitution synonymous exon GRCh37 6838885 6838885 Chr7(GRCh37):g.6838885C>T 1419 1419 NM_198097.3:c.1419G>A p.Thr473= p.Thr473Thr 15 26 3' 88.1133 9.64913 0.442005 9.54779 88.1133 9.64913 0.442005 9.18958 0 Protein of unknown function DUF1712, fungi rs201457485 yes no Frequency/1000G 2 0.000000 0 0.018371 0.002300 0.026600 0.006000 0.022900 0.049000 0.005570 0.001351 0.026026 0.005536 0.003049 0.012234 0.002866 0.003169 0.007426 0.026026 696 12 288 22 30 85 189 49 21 124956 8884 11066 3974 9838 6948 65954 15464 2828 0.001437 0.000000 0.003472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 694 12 286 22 30 85 189 49 21 0 0 0 0 0 0 0 0 0 RF 51 Exomes 7614 3422 11036 52 10 62 0.0067832 0.00291375 0.00558659 0.0067832 0.00291375 0.00558659 15 transition G A G>A 0.984 -0.279 T Thr ACG 0.116 T Thr ACA 0.280 473 213 PASS 0.01 0.03 0.06 0.01 0.06 0.0023 0.018 0.049 0.006 0.023 0.027 . . CCZ1B:NM_198097:exon15:c.G1419A:p.T473T . . 0.19402985 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . 0.0029 0.0056 0.0068 0.0029 0.0056 0.0068 . 0.4418 . . . . . . . . 1.316e-03 . . . 0.0003 0.0015 0.0016 0.0016 0.0005 0.0017 0.0038 0.0020 0 0.0008 0.0017 0.0021 0.0006 0.0005 0.0043 0.0020 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0184 . . . 0.46 0.62 182 ENSG00000146574 CCZ1B CCZ1B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201457485 . . . . . . . . . . . . . . . . . . . . . . . 0.005587 . . . . . 0.0014 0.0056 0.0260 0.0055 0.0030 0.0032 0.0029 0.0074 0.0122 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.06 rs1061428 rs1061428 rs1061428 rs1061428 1 1538 10 1/0 0,252,255 +rs201457485 7 6838885 C T - RSPH10B 27362 Radial spoke head 10 homolog B (Chlamydomonas) NM_173565.3 1 3106 2613 NP_775836.3 P0C881 substitution downstream GRCh37 6838885 6838885 Chr7(GRCh37):g.6838885C>T *711 *711 NM_173565.3:c.*711C>T p.? p.? 21 892 3' 85.9681 9.96888 0.986836 X.86 85.9681 9.96888 0.986836 X.86 0 Cryptic Acceptor Strongly Activated 6838897 I.17 5.3e-05 62.6818 3.09836 0.00011 65.9965 rs201457485 yes no Frequency/1000G 2 0.000000 0 0.018371 0.002300 0.026600 0.006000 0.022900 0.049000 0.005570 0.001351 0.026026 0.005536 0.003049 0.012234 0.002866 0.003169 0.007426 0.026026 696 12 288 22 30 85 189 49 21 124956 8884 11066 3974 9838 6948 65954 15464 2828 0.001437 0.000000 0.003472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 694 12 286 22 30 85 189 49 21 0 0 0 0 0 0 0 0 0 RF 51 Exomes 7614 3422 11036 52 10 62 0.0067832 0.00291375 0.00558659 0.0067832 0.00291375 0.00558659 15 transition C T C>T 0.984 -0.279 213 PASS 0.01 0.03 0.06 0.01 0.06 0.0023 0.018 0.049 0.006 0.023 0.027 . . CCZ1B:NM_198097:exon15:c.G1419A:p.T473T . . 0.19402985 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . 0.0029 0.0056 0.0068 0.0029 0.0056 0.0068 . 0.4418 . . . . . . . . 1.316e-03 . . . 0.0003 0.0015 0.0016 0.0016 0.0005 0.0017 0.0038 0.0020 0 0.0008 0.0017 0.0021 0.0006 0.0005 0.0043 0.0020 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0184 . . . 0.46 0.62 182 ENSG00000146574 CCZ1B CCZ1B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201457485 . . . . . . . . . . . . . . . . . . . . . . . 0.005587 . . . . . 0.0014 0.0056 0.0260 0.0055 0.0030 0.0032 0.0029 0.0074 0.0122 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.06 rs1061428 rs1061428 rs1061428 rs1061428 1 1538 10 1/0 0,252,255 +rs201457485 7 6838885 C T - RSPH10B2 34385 Radial spoke head 10 homolog B2 (Chlamydomonas) NM_001099697.1 1 3106 2613 NP_001093167.1 B2RC85 substitution downstream GRCh37 6838885 6838885 Chr7(GRCh37):g.6838885C>T *711 *711 NM_001099697.1:c.*711C>T p.? p.? 21 892 3' 85.9681 9.96888 0.987965 10.0999 85.9681 9.96888 0.987965 10.0999 0 Cryptic Acceptor Strongly Activated 6838897 I.17 5.3e-05 62.6818 3.09836 0.00011 65.9965 rs201457485 yes no Frequency/1000G 2 0.000000 0 0.018371 0.002300 0.026600 0.006000 0.022900 0.049000 0.005570 0.001351 0.026026 0.005536 0.003049 0.012234 0.002866 0.003169 0.007426 0.026026 696 12 288 22 30 85 189 49 21 124956 8884 11066 3974 9838 6948 65954 15464 2828 0.001437 0.000000 0.003472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 694 12 286 22 30 85 189 49 21 0 0 0 0 0 0 0 0 0 RF 51 Exomes 7614 3422 11036 52 10 62 0.0067832 0.00291375 0.00558659 0.0067832 0.00291375 0.00558659 15 transition C T C>T 0.984 -0.279 213 PASS 0.01 0.03 0.06 0.01 0.06 0.0023 0.018 0.049 0.006 0.023 0.027 . . CCZ1B:NM_198097:exon15:c.G1419A:p.T473T . . 0.19402985 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . 0.0029 0.0056 0.0068 0.0029 0.0056 0.0068 . 0.4418 . . . . . . . . 1.316e-03 . . . 0.0003 0.0015 0.0016 0.0016 0.0005 0.0017 0.0038 0.0020 0 0.0008 0.0017 0.0021 0.0006 0.0005 0.0043 0.0020 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0184 . . . 0.46 0.62 182 ENSG00000146574 CCZ1B CCZ1B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201457485 . . . . . . . . . . . . . . . . . . . . . . . 0.005587 . . . . . 0.0014 0.0056 0.0260 0.0055 0.0030 0.0032 0.0029 0.0074 0.0122 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.06 rs1061428 rs1061428 rs1061428 rs1061428 1 1538 10 1/0 0,252,255 +rs201214899 (chr7:6958187 A/G) 7 6958187 A G Not on a known gene +rs61739528 7 7420095 G A - COL28A1 22442 Collagen, type XXVIII, alpha 1 NM_001037763.2 -1 3515 3378 NP_001032852.2 Q2UY09 substitution intron GRCh37 7420095 7420095 Chr7(GRCh37):g.7420095G>A 2322+196 2322+196 NM_001037763.2:c.2322+196C>T p.? p.? 30 30 609996 196 5' 74.2807 8.34018 0.872135 0 74.2807 8.34018 0.872135 0 0 rs61739528 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.006100 0.000000 0.003000 0.004300 0.003004 0.001376 0.001193 0.000000 0.000618 0.000000 0.005065 0.000572 0.001020 0.005065 93 12 1 0 1 0 76 2 1 30958 8720 838 302 1618 0 15006 3494 980 0.010753 0.000000 0.000000 0.000000 0.000000 0.000000 0.013158 0.000000 0.000000 1 0 0 0 0 0 1 0 0 91 12 1 0 1 0 74 2 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.000 0.044 255 PASS . 0.0014 . . 0.004 . 0.0024 0.0043 . 0.003 0.0061 . . . . . 0.44444445 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . INTRON(MODIFIER||||COL28A1|mRNA|CODING|NM_001037763|) . . . . . . . -0.0441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.31 0.4 182 ENSG00000215018 COL28A1 COL28A1 . . . . . . 413 0.00635619 64976 400 0.00666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61739528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0030 0.0012 0 0.0006 0.0006 0.0051 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs61739528 rs61739528 1 1538 10 1/0 0,255,255 +rs202213416 7 7421223 G A - COL28A1 22442 Collagen, type XXVIII, alpha 1 NM_001037763.2 -1 3515 3378 NP_001032852.2 Q2UY09 substitution synonymous exon GRCh37 7421223 7421223 Chr7(GRCh37):g.7421223G>A 2157 2157 NM_001037763.2:c.2157C>T p.Gly719= p.Gly719Gly 28 609996 21 3' 78.7273 7.70478 0.879549 5.61332 78.7273 7.70478 0.879549 5.58638 0 Collagen triple helix repeat rs202213416 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001429 0.000541 0.000058 0.000788 0.000000 0.000065 0.002763 0.000388 0.001703 0.002763 396 13 2 8 0 2 350 10 11 277132 24010 34408 10150 18858 30780 126676 25792 6458 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 394 13 2 8 0 2 348 10 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8188 3743 11931 22 1 23 0.00267966 0.000267094 0.00192404 0.00267966 0.000267094 0.00192404 197 transition C T C>T 0.000 -0.602 G Gly GGC 0.342 G Gly GGT 0.162 719 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . ENSG00000215018:ENST00000399429:exon28:c.C2157T:p.G719G . COL28A1:NM_001037763:exon28:c.C2157T:p.G719G . . 0.3943662 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G719|COL28A1|mRNA|CODING|NM_001037763|NM_001037763.ex.28) 0.0003 0.0019 0.0027 0.0003 0.0019 0.0027 . 0.6898 . . . . . . . . 1.614e-03 . . . 0.0003 0.0013 0.0002 0 0.0011 0.0025 0 0.0001 0.0004 0.0015 0.0002 0 0.0006 0.0027 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.12 0.27 182 ENSG00000215018 COL28A1 COL28A1 . . . . . . 194 0.00298572 64976 193 0.00321742 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202213416 . . . . . . . . . . . . . . . . . . . . . . . 0.001924 . . . . . 0.0005 0.0014 5.958e-05 0.0008 0 0.0004 0.0028 0.0018 6.498e-05 0.0006 0.0013 0 0 0 0.0003 0.0022 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0027 . . rs202213416 rs202213416 1 1538 10 1/0 0,255,255 +rs141375846 7 12610362 G A - SCIN 21695 Scinderin NM_001112706.2 1 3246 2148 NP_001106177.1 Q9Y6U3 substitution 5'UTR GRCh37 12610362 12610362 Chr7(GRCh37):g.12610362G>A -51 -51 NM_001112706.2:c.-51G>A p.? p.? 1 613416 -250 5' 81.9389 X.11 0.983655 13.0474 81.9389 X.11 0.983655 13.0474 0 Cryptic Acceptor Strongly Activated 12610369 0.145721 2.53857 0.121272 68.2616 rs141375846 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000800 0.000000 0.000000 0.007000 0.000000 0.006963 0.000829 0.001391 0.019211 0.000000 0.000549 0.005004 0.039121 0.009319 0.039121 1179 13 34 152 0 12 341 584 43 169330 15690 24440 7912 11756 21842 68148 14928 4614 0.000142 0.000000 0.000000 0.000253 0.000000 0.000000 0.000000 0.001474 0.000000 12 0 0 1 0 0 0 11 0 1155 13 34 150 0 12 341 562 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.117 255 PASS . . . . . 0.0008 0.0016 . . 0.007 . . BC075797:uc003ssl.1:exon2:c.G267A:p.X89X . . . 0.4 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . UTR_5_PRIME(MODIFIER||||SCIN|mRNA|CODING|NM_001112706|NM_001112706.ex.1) . . . . . . . 0.4199 . . . . . . . . 6.064e-03 . . . 0.0029 0.0053 0 0 0.0455 0.0124 0.0082 0.0007 0.0036 0.0045 0 0 0.0455 0.0154 0 0.0007 . synonymous_SNV . . . . ncRNA_exonic exonic UTR5 . . . 0.0016 . . . 0.46 0.4 182 ENSG00000225606 BC075797 SCIN . . NM_001112706:c.-51G>A . . . 393 0.00604839 64976 386 0.00643483 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141375846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0066 0.0014 0.0193 0 0.0396 0.0044 0.0069 0.0005 0.0008 0.0087 0.0024 0.0166 0 0.0375 0.0071 0.0184 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 7 14797181 A ACA - DGKB 2850 Diacylglycerol kinase beta NM_001350705.1 -1 7212 2415 NP_001337634.1 Q9Y6T7 duplication intron GRCh37 14797180 14797181 Chr7(GRCh37):g.14797181_14797182dup 147+98 147+99 NM_001350705.1:c.147+98_147+99dup p.? p.? 3 3 604070 99 5' 70.5041 2.55694 0.376479 0 70.5041 2.55694 0.376479 0 0 New Donor Site 14797181 3.29971 0.062733 64.1225 rs147706722 yes no Frequency/1000G 2 0.316294 AC 1584 0.316294 0.495500 0.232100 0.357100 0.130200 0.304000 0.255183 0.469428 0.289474 0.131757 0.351334 0.000000 0.152526 0.134767 0.190928 0.469428 7730 4023 231 39 553 0 2258 445 181 30292 8570 798 296 1574 0 14804 3302 948 0.161578 0.228934 0.116883 0.051282 0.159132 0.000000 0.075288 0.058427 0.082873 1249 921 27 2 88 0 170 26 15 5229 2178 177 35 377 0 1918 393 151 0 0 0 0 0 0 0 0 0 PASS 37 Genomes GT 255 Pass . . . . . . . . . . . . . . . . 0.9375 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000136267 DGKB DGKB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv887712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74352324 rs74352324 1 1538 10 1.I 0,3,3 +. 7 15601409 T TAA - AGMO 33784 Alkylglycerol monooxygenase NM_001004320.1 -1 2475 1338 NP_001004320.1 Q6ZNB7 duplication frameshift exon GRCh37 15601409 15601410 Chr7(GRCh37):g.15601410_15601411dup 60 61 NM_001004320.1:c.60_61dup p.Tyr21Phefs*4 p.Tyr21Phefs*4 1 613738 -65 5' 90.0021 8.68007 0.99207 2.53426 90.0021 8.68007 0.99207 2.10702 0 rs370025027 yes no Frequency/1000G 2 0.001997 AA 10 0.001997 0.000800 0.000000 0.000000 0.007000 0.002900 0.004926 0.001129 0.002678 0.005033 0.000000 0.000784 0.005427 0.017026 0.006534 0.017026 1360 27 91 51 0 24 686 439 42 276080 23924 33980 10134 18806 30614 126410 25784 6428 0.000065 0.000000 0.000059 0.000000 0.000000 0.000000 0.000063 0.000155 0.000622 9 0 1 0 0 0 4 2 2 1342 27 89 51 0 24 678 435 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8222 4257 12479 32 7 39 0.00387691 0.00164165 0.00311551 0.00387691 0.00164165 0.00311551 126 COSM1683389 Large intestine 0.000450 2220 TT 255 Pass . . . . . 0.0008 0.002 0.0029 . 0.007 . ENSG00000187546:ENST00000342526:exon1:c.61_62insTT:p.Y21fs AGMO:uc003stb.1:exon1:c.61_62insTT:p.Y21fs AGMO:NM_001004320:exon1:c.61_62insTT:p.Y21fs . . 0.2923077 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 65 . . FRAME_SHIFT(HIGH||||AGMO|mRNA|CODING|NM_001004320|NM_001004320.ex.1) 0.0016 0.0031 0.0039 0.0016 0.0031 0.0039 . . . . . . . . . . 4.593e-03 . . . 0.0013 0.0037 0.0030 0 0.0163 0.0049 0.0042 0.0007 0.0012 0.0044 0.0030 0 0.0188 0.0052 0.0087 0.0006 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000187546 AGMO AGMO . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370025027 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv523199 0.003115 . . . . . 0.0012 0.0048 0.0027 0.0050 0 0.0173 0.0052 0.0064 0.0008 0.0010 0.0057 0.0036 0.0066 0 0.0152 0.0068 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0039 . . . . 1 1538 10 1.I 0,10,53 +. 7 17913083 A AC - SNX13 21335 Sorting nexin 13 NM_001350862.1 -1 6404 2907 NP_001337791.1 Q9Y5W8 duplication intron GRCh37 17913083 17913084 Chr7(GRCh37):g.17913084dup 753+67 753+67 NM_001350862.1:c.753+67dup p.? p.? 8 8 606589 67 5' 84.954 9.04032 0.995946 0 84.954 9.04032 0.995946 0 0 rs5882635 yes no Frequency/1000G 2 0.000000 0 0.999201 1.000000 1.000000 0.997000 0.999000 1.000000 0.999968 1.000000 1.000000 1.000000 0.999383 0.000000 1.000000 1.000000 1.000000 1.000000 30955 8732 838 302 1619 0 14996 3486 982 30956 8732 838 302 1620 0 14996 3486 982 0.499984 0.500000 0.500000 0.500000 0.499691 0.000000 0.500000 0.500000 0.500000 15477 4366 419 151 809 0 7498 1743 491 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes G 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.9459459 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . INTRON(MODIFIER||||SNX13|mRNA|CODING|NM_015132|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000071189 SNX13 SNX13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397740051 0.109 0.072 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830913 . . . . . . . . . . . . . . . 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs5882635 rs5882635 rs5882635 1 1538 10 1.I 0,2,2 +rs143520640 7 21941885 G T - CDCA7L 30777 Cell division cycle associated 7-like NM_018719.4 -1 2908 1365 NP_061189.2 Q96GN5 substitution 3'UTR GRCh37 21941885 21941885 Chr7(GRCh37):g.21941885G>T *55 *55 NM_018719.4:c.*55C>A p.? p.? 10 609685 86 3' 85.9477 7.11308 0.95188 7.85031 85.9477 7.11308 0.95188 7.85031 0 rs143520640 yes no Frequency/1000G 2 G 0.000000 0 0.014577 0.001500 0.028600 0.025800 0.011900 0.007200 0.008566 0.004374 0.010922 0.010345 0.021632 0.000000 0.009603 0.007075 0.011579 0.021632 259 38 9 3 35 0 139 24 11 30236 8688 824 290 1618 0 14474 3392 950 0.007722 0.000000 0.000000 0.000000 0.000000 0.000000 0.014388 0.000000 0.000000 2 0 0 0 0 0 2 0 0 255 38 9 3 35 0 135 24 11 0 0 0 0 0 0 0 0 0 PASS 44 Genomes 3152 1382 4534 30 2 32 0.00942803 0.00144509 0.00700832 0.00942803 0.00144509 0.00700832 225 transversion C A C>A 0.000 0.770 208 PASS . 0.01 0.01 0.02 0.01 0.0015 0.015 0.0072 0.026 0.012 0.029 . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . . 0.0014 0.007 0.0094 0.0014 0.007 0.0094 . 0.6395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0146 . . . 0.36 0.7 182 ENSG00000164649 CDCA7L CDCA7L . . . . . . 623 0.00958816 64976 551 0.00918548 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143520640 . . . . . . . . . . . . . . . . . . . . . . . 0.007008 . . . . III.21 . . . . . . . . . 0.0044 0.0086 0.0109 0.0103 0.0216 0.0071 0.0096 0.0116 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.02 . . rs143520640 rs143520640 1 1538 10 1/0 0,255,255 +rs143520640 7 21941885 G T - DNAH11 2942 Dynein, axonemal, heavy chain 11 NM_001277115.1 1 13896 13551 NP_001264044.1 substitution downstream GRCh37 21941885 21941885 Chr7(GRCh37):g.21941885G>T *1013 *1013 NM_001277115.1:c.*1013G>T p.? p.? 82 603339 1261 3' 87.5833 10.212 0.981762 6.12457 87.5833 10.212 0.981762 6.12457 0 rs143520640 yes no Frequency/1000G 2 G 0.000000 0 0.014577 0.001500 0.028600 0.025800 0.011900 0.007200 0.008566 0.004374 0.010922 0.010345 0.021632 0.000000 0.009603 0.007075 0.011579 0.021632 259 38 9 3 35 0 139 24 11 30236 8688 824 290 1618 0 14474 3392 950 0.007722 0.000000 0.000000 0.000000 0.000000 0.000000 0.014388 0.000000 0.000000 2 0 0 0 0 0 2 0 0 255 38 9 3 35 0 135 24 11 0 0 0 0 0 0 0 0 0 PASS 44 Genomes 3152 1382 4534 30 2 32 0.00942803 0.00144509 0.00700832 0.00942803 0.00144509 0.00700832 225 transversion G T G>T 0.000 0.770 208 PASS . 0.01 0.01 0.02 0.01 0.0015 0.015 0.0072 0.026 0.012 0.029 . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . . 0.0014 0.007 0.0094 0.0014 0.007 0.0094 . 0.6395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0146 . . . 0.36 0.7 182 ENSG00000164649 CDCA7L CDCA7L . . . . . . 623 0.00958816 64976 551 0.00918548 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143520640 . . . . . . . . . . . . . . . . . . . . . . . 0.007008 . . . . III.21 . . . . . . . . . 0.0044 0.0086 0.0109 0.0103 0.0216 0.0071 0.0096 0.0116 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.02 . . rs143520640 rs143520640 1 1538 10 1/0 0,255,255 +rs146658427 7 21941886 C T - CDCA7L 30777 Cell division cycle associated 7-like NM_018719.4 -1 2908 1365 NP_061189.2 Q96GN5 substitution 3'UTR GRCh37 21941886 21941886 Chr7(GRCh37):g.21941886C>T *54 *54 NM_018719.4:c.*54G>A p.? p.? 10 609685 85 3' 85.9477 7.11308 0.95188 7.85031 85.9477 7.11308 0.95188 7.85031 0 rs146658427 yes no Frequency/1000G 2 C 0.000000 0 0.014577 0.001500 0.028600 0.025800 0.011900 0.007200 0.008832 0.004375 0.010949 0.010417 0.021658 0.000000 0.009601 0.009440 0.011579 0.021658 267 38 9 3 35 0 139 32 11 30230 8686 822 288 1616 0 14478 3390 950 0.007491 0.000000 0.000000 0.000000 0.000000 0.000000 0.014388 0.000000 0.000000 2 0 0 0 0 0 2 0 0 263 38 9 3 35 0 135 32 11 0 0 0 0 0 0 0 0 0 PASS 44 Genomes 3153 1382 4535 29 2 31 0.00911376 0.00144509 0.00678931 0.00911376 0.00144509 0.00678931 230 transition G A G>A 0.000 1.255 213 PASS . 0.01 0.01 0.02 0.01 0.0015 0.015 0.0072 0.026 0.012 0.029 . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 25.0 . . . 0.0014 0.0068 0.0091 0.0014 0.0068 0.0091 . 0.6491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0146 . . . 0.41 0.73 182 ENSG00000164649 CDCA7L CDCA7L . . . . . . 633 0.00974206 64976 561 0.00935218 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146658427 . . . . . . . . . . . . . . . . . . . . . . . 0.006789 . . . . 3.V . . . . . . . . . 0.0044 0.0088 0.0109 0.0104 0.0217 0.0094 0.0096 0.0116 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.02 . . rs146658427 rs146658427 1 1538 10 1/0 0,255,255 +rs146658427 7 21941886 C T - DNAH11 2942 Dynein, axonemal, heavy chain 11 NM_001277115.1 1 13896 13551 NP_001264044.1 substitution downstream GRCh37 21941886 21941886 Chr7(GRCh37):g.21941886C>T *1014 *1014 NM_001277115.1:c.*1014C>T p.? p.? 82 603339 1262 3' 87.5833 10.212 0.981762 6.12457 87.5833 10.212 0.981762 6.12457 0 Cryptic Donor Strongly Activated 21941880 7.13539 0.950889 75.23 VIII.08 0.981987 81.0086 rs146658427 yes no Frequency/1000G 2 C 0.000000 0 0.014577 0.001500 0.028600 0.025800 0.011900 0.007200 0.008832 0.004375 0.010949 0.010417 0.021658 0.000000 0.009601 0.009440 0.011579 0.021658 267 38 9 3 35 0 139 32 11 30230 8686 822 288 1616 0 14478 3390 950 0.007491 0.000000 0.000000 0.000000 0.000000 0.000000 0.014388 0.000000 0.000000 2 0 0 0 0 0 2 0 0 263 38 9 3 35 0 135 32 11 0 0 0 0 0 0 0 0 0 PASS 44 Genomes 3153 1382 4535 29 2 31 0.00911376 0.00144509 0.00678931 0.00911376 0.00144509 0.00678931 230 transition C T C>T 0.000 1.255 213 PASS . 0.01 0.01 0.02 0.01 0.0015 0.015 0.0072 0.026 0.012 0.029 . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 25.0 . . . 0.0014 0.0068 0.0091 0.0014 0.0068 0.0091 . 0.6491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0146 . . . 0.41 0.73 182 ENSG00000164649 CDCA7L CDCA7L . . . . . . 633 0.00974206 64976 561 0.00935218 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146658427 . . . . . . . . . . . . . . . . . . . . . . . 0.006789 . . . . 3.V . . . . . . . . . 0.0044 0.0088 0.0109 0.0104 0.0217 0.0094 0.0096 0.0116 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.02 . . rs146658427 rs146658427 1 1538 10 1/0 0,255,255 +rs143279140 7 26225103 T C - NFE2L3 7783 Nuclear factor (erythroid-derived 2)-like 3 NM_004289.6 1 3711 2085 NP_004280.5 Q9Y4A8 substitution synonymous exon GRCh37 26225103 26225103 Chr7(GRCh37):g.26225103T>C 1785 1785 NM_004289.6:c.1785T>C p.Cys595= p.Cys595Cys 4 604135 951 3' 92.826 12.0634 0.973085 8.09936 92.826 12.0634 0.973085 8.09936 0 bZIP transcription factor, bZIP-1 Basic leucine zipper domain, Maf-type Basic leucine zipper Basic-leucine zipper domain rs143279140 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000639 0.000167 0.000465 0.000000 0.000106 0.000065 0.001131 0.000155 0.000930 0.001131 177 4 16 0 2 2 143 4 6 276860 24022 34410 10150 18864 30780 126398 25784 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 177 4 16 0 2 2 143 4 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4406 12992 12 0 12 0.00139567 0 0.000922793 0.00139567 0 0.000922793 58 transition T C T>C 0.992 0.205 C Cys TGT 0.448 C Cys TGC 0.552 595 255 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000050344:ENST00000056233:exon4:c.T1785C:p.C595C NFE2L3:uc003sxq.3:exon4:c.T1785C:p.C595C NFE2L3:NM_004289:exon4:c.T1785C:p.C595C . . 0.35135135 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . 0.0009 0.0014 . 0.0009 0.0014 . I.59 . . . . . . . . 6.867e-04 . . . 9.647e-05 0.0007 0.0003 0.0002 0.0003 0.0014 0.0014 6.062e-05 0.0001 0.0007 0.0003 0.0001 0.0002 0.0011 0.0014 6.097e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.34 0.25 182 ENSG00000050344 NFE2L3 NFE2L3 . . . . . . 43 0.000661783 64976 42 0.000700163 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs143279140 . . . . . . . . . . . . . . . . . . . . . . . 0.000923 . . . . . 6.538e-05 0.0006 0.0005 0 0.0001 0.0001 0.0011 0.0011 6.498e-05 0.0003 0.0006 0 0 0 0.0003 0.0010 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0014 . . rs143279140 rs143279140 1 1538 10 1/0 0,255,255 +. 7 31378787 C T - NEUROD6 13804 Neuronal differentiation 6 NM_022728.3 -1 2161 1014 NP_073565.2 Q96NK8 substitution synonymous exon GRCh37 31378787 31378787 Chr7(GRCh37):g.31378787C>T 96 96 NM_022728.3:c.96G>A p.Lys32= p.Lys32Lys 2 611513 117 3' 88.5149 8.56621 0.933927 4.98893 88.5149 8.56621 0.933927 4.98893 0 Transcription factor, basic helix-loop-helix, NeuroD 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 243738 15302 33582 9844 17246 30780 109262 22258 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 67 Exomes COSM5650413 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 1.000 2.788 K Lys AAG 0.575 K Lys AAA 0.425 32 255 PASS . . . . . . . . . . . ENSG00000164600:ENST00000297142:exon2:c.G96A:p.K32K . NEUROD6:NM_022728:exon2:c.G96A:p.K32K . . 0.50769234 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K32|NEUROD6|mRNA|CODING|NM_022728|NM_022728.ex.2) . . . . . . . I.34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000164600 NEUROD6 NEUROD6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.28 0 4.103e-06 0 0 0 0 0 0 3.249e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17727583 7 33573546 A C - BBS9 30000 Bardet-Biedl syndrome 9 NM_001348041.2 1 4883 2727 NP_001334970.1 substitution intron GRCh37 33573546 33573546 Chr7(GRCh37):g.33573546A>C 2299-20 2299-20 NM_001348041.2:c.2299-20A>C p.? p.? 21 20 607968 -20 3' 90.9958 5.65888 0.685781 III.34 90.9958 5.98285 0.690314 5.1441 0.0212868 rs17727583 yes no Frequency/HapMap/1000G 3 A benign 0.000000 0 0.004593 0.000800 0.002000 0.000000 0.013900 0.008600 0.009005 0.002247 0.007089 0.014480 0.000000 0.002436 0.014192 0.003723 0.012686 0.014480 2496 54 244 147 0 75 1798 96 82 277186 24030 34418 10152 18864 30782 126690 25786 6464 0.000144 0.000000 0.000116 0.000394 0.000000 0.000000 0.000237 0.000000 0.000309 20 0 2 2 0 0 15 0 1 2456 54 240 143 0 75 1768 96 80 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8471 4400 12871 129 6 135 0.015 0.00136178 0.0103798 0.015 0.00136178 0.0103798 100 RCV000248096.1 germline clinical testing Benign 1 not specified transversion A C A>C 0.000 -1.005 255 PASS . 0.01 0.01 . 0.02 0.0008 0.0046 0.0086 . 0.014 0.002 . . . . . 0.55813956 . . germline 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000248096.1 not_specified MedGen CN169374 2 . . . 43.0 . . . 0.0014 0.01 0.015 0.0014 0.01 0.015 . 0.0206 . . . . . . . . 9.029e-03 . . . 0.0018 0.0087 0.0062 0 0.0026 0.0152 0.0140 0.0023 0.0019 0.0087 0.0063 0 0.0039 0.0141 0.0101 0.0023 . . . . . . intronic intronic intronic . . . 0.0046 . . . 0.44 0.27 182 ENSG00000122507 BBS9 BBS9 . . . . . . 659 0.0101422 64976 636 0.0106025 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17727583 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010380 . . . . . 0.0020 0.0092 0.0070 0.0145 0 0.0040 0.0145 0.0133 0.0024 0.0027 0.0076 0.0095 0.0132 0 0.0020 0.0123 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs17727583 rs17727583 rs17727583 rs17727583 1 1538 10 1/0 0,255,255 +. 7 35289889 C CA - TBX20 11598 T-box 20 NM_001077653.2 -1 1824 1344 NP_001071121.1 Q9UMR3 duplication intron GRCh37 35289889 35289890 Chr7(GRCh37):g.35289890dup 128-75 128-75 NM_001077653.2:c.128-75dup p.? p.? 2 1 606061 -74 3' 88.7626 8.92071 0.938165 7.02546 88.7626 8.92071 0.938165 6.72813 0 rs5883498 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30959 8723 838 302 1622 0 15000 3494 980 30960 8724 838 302 1622 0 15000 3494 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15479 4361 419 151 811 0 7500 1747 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes T 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.972973 . . . 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 74 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000164532 TBX20 TBX20 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397953087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11428369 rs5883498 rs5883498 1 1538 255 1.I 0,0,255 +. 7 37960644 G T - EPDR1 17572 Ependymin related 1 NM_017549.4 1 2599 675 NP_060019.2 Q9UM22 substitution missense exon GRCh37 37960644 37960644 Chr7(GRCh37):g.37960644G>T 103 103 NM_017549.4:c.103G>T p.Ala35Ser p.Ala35Ser 1 -167 5' 68.9897 6.61826 0.525236 XI.76 68.9897 6.61826 0.525236 XI.76 0 New Donor Site 37960642 0.0936238 0.001922 68.0214 transversion G T G>T 0.000 -0.037 A Ala GCG 0.107 S Ser TCG 0.056 35 12 3 Macaque 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 199.49 0.00 Tolerated 0.82 III.62 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.252 . . 63.0 . . . . . . . . . . -1.2499 -1.270 -1.250 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.042 @ . . . . . . ENSG00000086289 EPDR1 EPDR1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . T 0.209 0.008 . . 37 . 0.158 . . 0.064 . . . 0.003 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.251 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 0.084 . . . . . 0.007 . 0.025 . HET 0.22 . . . . . . . . . . . . . 0.6345 . . III.73 -3.64 . 0.430000 A4D1W8 . . Name\x3dnsv8074 . . 0.092 . . . . . . . . . . . . . . . . . . . . . . 0.477 . -0.811 -0.811000 . . 0.430000 . . 1.0E-255 0.015 0.189 . 0.214 0.021 . 0.133 . 0.058 -0.811 -0.446 . . . . . 1 1538 10 1/0 0,255,255 +rs200774960 7 38398174 A G - TRG-AS1 48974 T cell receptor gamma locus antisense RNA 1 NR_040085.1 1 3516 0 substitution intron GRCh37 38398174 38398174 Chr7(GRCh37):g.38398174A>G 435+8123 435+8123 NR_040085.1:n.435+8123A>G p.? p.? 3 3 8123 5' 87.5418 8.88433 0.996044 3.71958 87.5418 8.88433 0.996044 3.71958 0 rs200774960 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.003525 0.000847 0.003380 0.005145 0.000054 0.001366 0.004999 0.002554 0.006157 0.005145 928 20 116 52 1 42 617 41 39 263248 23600 34324 10106 18662 30740 123428 16054 6334 0.000030 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000000 0.000316 4 0 1 0 0 0 2 0 1 920 20 114 52 1 42 613 41 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8181 3726 11907 41 4 45 0.00498662 0.00107239 0.00376506 0.00498662 0.00107239 0.00376506 103 transition A G A>G 0.000 1.658 255 PASS . . . . . . 0.0006 . . 0.003 . ENSG00000211699:ENST00000390346:exon2:c.T293C:p.L98S TRGV3:uc003tgr.2:exon2:c.T293C:p.L98S . . . 0.53932583 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||TRG-AS1|Non-coding_transcript|NON_CODING|NR_040085|) 0.0011 0.0038 0.005 0.0011 0.0038 0.005 . 0.3690 . . . . . . . . 3.316e-03 . . . 0.0006 0.0037 0.0041 0.0002 0.0040 0.0059 0.0029 0.0011 0.0006 0.0031 0.0042 0 0.0041 0.0041 0.0029 0.0011 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . 0.0006 . . . 0.25 0.44 182 ENSG00000211699 TRGV3 TRG-AS1 . . . . . . 288 0.00443241 64976 284 0.00473444 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs200774960 . . . . . . . . . . . . . . . . . . . . . . . 0.003765 . . . . II.87 0.0005 0.0035 0.0034 0.0047 5.869e-05 0.0025 0.0050 0.0065 0.0014 0.0014 0.0036 0.0036 0.0199 0 0.0029 0.0051 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.005 . . rs200774960 rs200774960 1 1538 10 1/0 0,255,255 +rs61756578 7 43580774 C T - HECW1 22195 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 NM_015052.4 1 6839 4821 NP_055867.3 Q76N89 substitution synonymous exon GRCh37 43580774 43580774 Chr7(GRCh37):g.43580774C>T 4032 4032 NM_015052.4:c.4032C>T p.Ser1344= p.Ser1344Ser 25 610384 13 3' 89.8716 11.0543 0.95477 8.17791 89.8716 11.0543 0.955503 8.01849 0.000255908 HECT rs61756578 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.004000 0.004300 0.001746 0.000000 0.004300 0.004630 0.000053 0.002696 0.001279 0.000000 0.006656 0.004630 484 0 148 47 1 83 162 0 43 277186 24020 34418 10152 18868 30782 126694 25792 6460 0.000043 0.000000 0.000058 0.000000 0.000000 0.000065 0.000016 0.000000 0.000929 6 0 1 0 0 1 1 0 3 472 0 146 47 1 81 160 0 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8312 3926 12238 8 2 10 0.000961538 0.000509165 0.00081646 0.000961538 0.000509165 0.00081646 159 transition C T C>T 0.992 0.044 S Ser AGC 0.243 S Ser AGT 0.149 1344 255 PASS . 0.0023 0.01 . 0.004 . 0.0016 0.0043 . 0.004 0.001 . . . . . 0.3490566 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 106.0 . . . 0.0005 0.0008 0.001 0.0005 0.0008 0.001 . -0.4779 . . . . . . . . 1.762e-03 . . . 0.0001 0.0023 0.0065 0 0 0.0020 0.0085 0.0024 0.0001 0.0019 0.0066 0.0001 0 0.0015 0.0087 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.24 0.34 182 ENSG00000002746 HECW1 HECW1 . . . . . . 87 0.00133896 64976 79 0.00131697 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61756578 . . . . . . . 0.0022893772893772895 0.0 0.0055248618784530384 0.0 0.00395778364116095 13.2052 3.09E-4 ENST00000429529 5.VI -4.23 . . . . . . 0.000816 . . . . . 0 0.0019 0.0043 0.0047 5.798e-05 0 0.0014 0.0073 0.0027 0 0.0005 0.0036 0.0033 0 0 0.0005 0.0031 . . . . -0.498 -0.498000 . . . . . 1.0E-255 . . . . . . . . . -0.498 . 0.01 rs61756578 rs61756578 rs61756578 rs61756578 1 1538 10 1/0 0,245,255 +rs75823018 7 44026251 T C - POLR2J4 28195 Polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene NR_003655.3 -1 6511 0 substitution exon GRCh37 44026251 44026251 Chr7(GRCh37):g.44026251T>C 888 888 NR_003655.3:n.888A>G 7 26 3' 83.3861 8.1482 0.339255 5.97547 83.3861 8.1482 0.339255 6.67926 0 rs75823018 yes no Frequency 1 0.000000 0 0.000880 0.008425 0.000040 0.000000 0.000779 0.000000 0.000211 0.000000 0.000633 0.008425 156 128 1 0 9 0 15 0 3 177332 15192 24728 8528 11554 22816 71118 18660 4736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 156 128 1 0 9 0 15 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.844 199 PASS . . . . . . . . . . . . POLR2J4:uc010kxw.2:exon6:c.A544G:p.K182E . . . 0.15646258 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T296|POLR2J4|Non-coding_transcript|NON_CODING|NR_003655|NR_003655.ex.7) . . . . . . . -0.4389 . . . . . . . . 6.284e-04 . . . 0.0072 0.0009 0.0024 0 0 0.0001 0 0 0.0041 0.0005 0.0034 0 0 0.0002 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.52 0.29 182 . POLR2J4 POLR2J4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.57 rs75823018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0054 0.0003 4.182e-05 0 0 0 3.519e-05 0 0 0.0114 0.0039 0 0 0.0067 0 0.0009 0.0032 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . rs75823018 rs112611402 1 1538 10 1/0 0,214,255 +. 7 44054235 A G - POLR2J4 28195 Polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene NR_003655.3 -1 6511 0 substitution exon GRCh37 44054235 44054235 Chr7(GRCh37):g.44054235A>G 372 372 NR_003655.3:n.372T>C 3 -31 5' 81.6581 8.48112 0.983236 XI.23 81.6581 8.48112 0.983236 12.0315 0 transition T C T>C 0.992 -0.037 123 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.0583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.47 0.2 182 . POLR2J4 POLR2J4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-123 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749807911 7 44079834 G A - LINC00957 22332 Long intergenic non-protein coding RNA 957 NR_015401.2 1 1713 0 substitution exon GRCh37 44079834 44079834 Chr7(GRCh37):g.44079834G>A 577 577 NR_015401.2:n.577G>A 2 342 3' 82.8945 9.90862 0.986013 9.46535 82.8945 9.90862 0.986013 9.46535 0 rs749807911 no no 0 G 0.000000 0 transition G A G>A 1.000 2.950 255 PASS . . . . . . . . . . . . RASA4CP:uc011kbk.1:exon2:c.C75T:p.A25A . . . 0.375 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 16.0 . . . . . . . . . . 0.7049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.45 0.44 182 . RASA4CP . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs749807911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs739735 rs739735 rs739735 rs739735 1 1538 10 1/0 0,255,255 +rs749807911 7 44079834 G A - RASA4CP 44185 RAS p21 protein activator 4C, pseudogene NR_024116.2 -1 1527 0 substitution exon GRCh37 44079834 44079834 Chr7(GRCh37):g.44079834G>A 180 180 NR_024116.2:n.180C>T 2 -4 5' 79.5269 8.16693 0.857949 XI.91 79.5269 8.16693 0.661542 X.92 -0.0763087 Cryptic Acceptor Strongly Activated 44079830 3.26633 0.031204 73.5146 3.73041 0.06211 73.5146 rs749807911 no no 0 G 0.000000 0 transition C T C>T 1.000 2.950 255 PASS . . . . . . . . . . . . RASA4CP:uc011kbk.1:exon2:c.C75T:p.A25A . . . 0.375 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 16.0 . . . . . . . . . . 0.7049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.45 0.44 182 . RASA4CP . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs749807911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs739735 rs739735 rs739735 rs739735 1 1538 10 1/0 0,255,255 +. 7 44081449 T C - LINC00957 22332 Long intergenic non-protein coding RNA 957 NR_015401.2 1 1713 0 substitution intron GRCh37 44081449 44081449 Chr7(GRCh37):g.44081449T>C 1445-365 1445-365 NR_015401.2:n.1445-365T>C p.? p.? 3 2 -365 3' 0 0 2.6e-05 0 0 0 2.6e-05 0 0 transition T C T>C 1.000 1.900 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . 0.6117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . . LINC00957 LINC00957 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 7 44081449 T C - RASA4CP 44185 RAS p21 protein activator 4C, pseudogene NR_024116.2 -1 1527 0 substitution upstream GRCh37 44081449 44081449 Chr7(GRCh37):g.44081449T>C -1227 -1227 NR_024116.2:n.-1227A>G p.? p.? 1 -1272 5' 76.0191 7.52496 0.911356 14.0252 76.0191 7.52496 0.911356 14.0252 0 transition A G A>G 1.000 1.900 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . 0.6117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . . LINC00957 LINC00957 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +rs190159967 7 44714938 C T - OGDH 8124 Oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) NM_002541.3 1 4302 3072 NP_002532.2 Q02218 substitution intron GRCh37 44714938 44714938 Chr7(GRCh37):g.44714938C>T 1026+71 1026+71 NM_002541.3:c.1026+71C>T p.? p.? 8 8 613022 71 5' 87.5642 8.40856 0.963752 9.69383 87.5642 8.40856 0.963752 9.57519 0 Cryptic Acceptor Weakly Activated 44714943 7.64748 0.974949 79.3511 IX.57 0.983333 82.8967 rs190159967 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001550 0.000688 0.000000 0.000000 0.000000 0.000000 0.001933 0.002577 0.004073 0.002577 48 6 0 0 0 0 29 9 4 30960 8720 838 302 1620 0 15006 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 6 0 0 0 0 29 9 4 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.047 2.304 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.46835443 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.1673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.3 0.19 182 ENSG00000105953 OGDH OGDH . . . . . . 145 0.00223159 64976 144 0.00240056 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190159967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.76 . . . . . . . . . 0.0007 0.0016 0 0 0 0.0026 0.0019 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs190159967 rs190159967 1 1538 10 1/0 0,255,255 +rs73694268 7 45104157 G A - CCM2 21708 CCM2 scaffolding protein NM_001029835.2 1 1882 1398 NP_001025006.1 substitution synonymous exon GRCh37 45104157 45104157 Chr7(GRCh37):g.45104157G>A 447 447 NM_001029835.2:c.447G>A p.Glu149= p.Glu149Glu 4 607929 -89 5' 72.0444 8.68156 0.922791 8.05151 72.0444 8.68156 0.922791 8.05151 0 PTB/PI domain rs73694268 yes no Frequency/1000G 2 G benign 0.000000 0 0.011981 0.044600 0.000000 0.000000 0.000000 0.001400 0.003296 0.035042 0.001424 0.000000 0.000000 0.000000 0.000103 0.000000 0.001548 0.035042 913 841 49 0 0 0 13 0 10 277016 24000 34400 10144 18868 30778 126592 25776 6458 0.000058 0.000667 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 8 0 0 0 0 0 0 0 897 825 49 0 0 0 13 0 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4274 12874 0 132 132 0 0.0299591 0.0101492 0 0.0299591 0.0101492 67 RCV000242656.1 germline clinical testing Benign 1 not specified transition G A G>A 0.992 0.044 E Glu GAG 0.583 E Glu GAA 0.417 149 255 PASS 0.02 0.01 . . . 0.045 0.012 0.0014 . . . . . . . . 0.45 . . germline 36 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Benign Benign RCV000242656.1 not_specified MedGen CN169374 1 . . . 80.0 . . . 0.03 0.01 . 0.03 0.01 . . I.70 . . . . . . . . 3.220e-03 . . . 0.0355 0.0042 0.0012 0 0 0.0001 0 0 0.0354 0.0032 0.0013 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0120 . . . 0.43 0.12 182 ENSG00000136280 CCM2 CCM2 . . . . . . 80 0.00123122 64976 20 0.000333411 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73694268 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010149 . . . . . 0.0356 0.0025 0.0014 0 0 0 0.0001 0.0015 0 0.0341 0.0098 0.0024 0 0 0 6.664e-05 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 . rs73694268 rs73694268 rs73694268 1 1538 10 1/0 0,255,255 +rs73694279 7 45120068 T A - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution 3'UTR GRCh37 45120068 45120068 Chr7(GRCh37):g.45120068T>A *40 *40 NM_001146334.1:c.*40A>T p.? p.? 8 55 3' 93.3693 10.523 0.980213 10.1873 93.3693 10.523 0.980213 10.421 0 rs73694279 yes no Frequency/1000G 2 T 0.000000 0 0.011582 0.043100 0.000000 0.000000 0.000000 0.001400 0.003377 0.034138 0.001412 0.000000 0.000000 0.000000 0.000083 0.000000 0.001873 0.034138 607 557 35 0 0 0 6 0 9 179756 16316 24782 8530 11866 22822 72048 18586 4806 0.000078 0.000858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 7 7 0 0 0 0 0 0 0 593 543 35 0 0 0 6 0 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3182 1336 4518 0 48 48 0 0.0346821 0.0105125 0 0.0346821 0.0105125 126 transversion A T A>T 0.000 -0.360 255 PASS 0.02 0.01 . . . 0.043 0.012 0.0014 . . . . . . . . 0.54545456 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . . 0.035 0.011 . 0.035 0.011 . . 0.3545 . . . . . . . . 3.037e-03 . . . 0.0354 0.0039 0 0 0 0 0 0 0.0330 0.0034 0 0 0 0 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0116 . . . 0.42 0.66 182 ENSG00000136274 NACAD NACAD ENST00000490531:c.*40A>T uc003tmt.3:c.*40A>T NM_001146334:c.*40A>T . . . 78 0.00120044 64976 20 0.000333411 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73694279 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv888001 0.010512 . . . . . 0.0346 0.0021 0.0014 0 0 0 8.757e-05 0.0018 0 0.0337 0.0097 0.0024 0 0 0 6.689e-05 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.035 . rs73694279 rs73694279 rs73694279 1 1538 10 1/0 0,255,255 +rs10276874 7 45123185 G A - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123185 45123185 Chr7(GRCh37):g.45123185G>A 2594 2594 NM_001146334.1:c.2594C>T p.Pro865Leu p.Pro865Leu 2 -1479 5' 94.6745 X.23 0.99635 X.42 94.6745 X.23 0.99635 X.42 0 Cryptic Acceptor Strongly Activated 45123174 2.1471 0.004348 74.48 3.39739 0.005417 78.5819 rs10276874 no no 0 A 0.000000 0 0.000063 0.000000 0.000246 0.000000 0.000000 0.000000 0.000000 0.000539 0.000000 0.000539 3 0 2 0 0 0 0 1 0 47636 3172 8140 1156 7132 4296 20514 1856 1370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.844 P Pro CCT 0.283 L Leu CTT 0.129 865 13 2 Rat -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.C2594T:p.P865L NACAD:uc003tmt.3:exon2:c.C2594T:p.P865L NACAD:NM_001146334:exon2:c.C2594T:p.P865L . . 0.34210527 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.019 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P865L|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.3892 -1.486 -1.389 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.121 . . exonic exonic exonic . . 0.065 @ . . . 0.32 0.4 182 ENSG00000136274 NACAD NACAD . . . 0.241 0.186 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.337 0.014 . . 37 . 0.096 . . 0.283 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.087 . . . . . 0.168 . 0.007 . HET 0 rs10276874 . . . . . . . . . . . . V.65 0.157895 ENST00000490531 II.86 -2.24 . 0.190000 O15069 . . Name\x3dnsv888001 . . 0.055 . . . 0 4.601e-05 0.0003 0 0 0 0 0 0 0 0.0002 0 0 0 0.0008 0 0 . . 0.372 . -0.650 -0.650000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.082 . 0.004 -0.650 -1.613 . rs10276874 rs10276874 rs10276874 rs10276874 1 1538 10 1/0 0,255,255 +. 7 45123377 G A - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123377 45123377 Chr7(GRCh37):g.45123377G>A 2402 2402 NM_001146334.1:c.2402C>T p.Ala801Val p.Ala801Val 2 -1671 5' 94.6745 X.23 0.99635 X.42 94.6745 X.23 0.99635 X.42 0 transition C T C>T 0.000 0.044 A Ala GCT 0.263 V Val GTT 0.178 801 13 3 White-tuffed-ear marmoset 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 202 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.C2402T:p.A801V NACAD:uc003tmt.3:exon2:c.C2402T:p.A801V NACAD:NM_001146334:exon2:c.C2402T:p.A801V . . 0.1640625 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.256 . . 128.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A801V|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.1360 -1.245 -1.136 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.130 . . exonic exonic exonic . . 0.115 @ . . . . . . ENSG00000136274 NACAD NACAD . . . 0.104 0.165 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.110 0.004 . . 37 . 0.083 . . 0.333 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.250 . . 0.193 . . . . . . 0 0.395 . . . . . 0.122 . 0.016 . HET 0.01 . . . . . . . . . . . . . IV.42 . ENST00000490531 I.81 -0.464 . 0.100000 O15069 . . Name\x3dnsv888001 . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.036 0.036000 . . 0.100000 . . 1.0E-202 0.000 0.063 . 0.043 0.001 . 0.111 . 0.286 0.036 0.009 . . . . . 1 1538 10 1/0 0,221,255 +rs111887226 7 45123660 A G - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123660 45123660 Chr7(GRCh37):g.45123660A>G 2119 2119 NM_001146334.1:c.2119T>C p.Ser707Pro p.Ser707Pro 2 -1954 5' 94.6745 X.23 0.99635 X.42 94.6745 X.23 0.99635 X.42 0 rs111887226 no no 0 G 0.000000 0 0.000313 0.000386 0.000742 0.000000 0.000000 0.000418 0.000307 0.000000 0.000000 0.000742 7 1 2 0 0 1 3 0 0 22348 2588 2696 528 3292 2390 9772 496 586 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 2 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 PASS 80 Exomes transition T C T>C 0.000 -3.265 S Ser TCC 0.220 P Pro CCC 0.328 707 13 2 Gorilla -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.38 IV.32 unknown 0.0 0.0 191 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.T2119C:p.S707P NACAD:uc003tmt.3:exon2:c.T2119C:p.S707P NACAD:NM_001146334:exon2:c.T2119C:p.S707P . . 0.1368421 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.004 . . 190.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S707P|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -2.2448 -2.316 -2.245 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.155 . . exonic exonic exonic . . 0.038 @ . . . 0.34 0.22 182 ENSG00000136274 NACAD NACAD . . . 0.999 0.389 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.115 0.005 . . 37 . 0.057 . . 0.249 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.080 . . . . . 0.020 . 0.012 . LowAF 0.45 rs111887226 . . . . . . . . . . . . I.39 . ENST00000490531 I.99 -3.98 . 0.320000 O15069 . . Name\x3dnsv888001 . . 0.002 . . . 0.0004 0.0003 0.0007 0 0 0 0.0003 0 0.0004 . . . . . . . . . . 0.372 . -2.846 -2.846000 . . 0.320000 . . 1.0E-191 0.000 0.063 . 0.016 0.000 . 0.004 . 0.016 -2.846 -1.619 . . . rs202009438 rs202009438 1 1538 10 1/0 0,202,255 +rs200226621 7 45123737 G A - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123737 45123737 Chr7(GRCh37):g.45123737G>A 2042 2042 NM_001146334.1:c.2042C>T p.Ala681Val p.Ala681Val 2 1975 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.7469 0 rs200226621 no no 0 G 0.000000 0 0.000063 0.000000 0.000171 0.000000 0.000191 0.000000 0.000000 0.000473 0.000000 0.000473 3 0 1 0 1 0 0 1 0 47904 2276 5840 2052 5228 6250 22812 2116 1330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.367 A Ala GCT 0.263 V Val GTT 0.178 681 13 4 White-tuffed-ear marmoset 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.14 IV.32 unknown 0.0 0.0 221 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.C2042T:p.A681V NACAD:uc003tmt.3:exon2:c.C2042T:p.A681V NACAD:NM_001146334:exon2:c.C2042T:p.A681V . . 0.2173913 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.146 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A681V|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.2177 -1.314 -1.218 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.140 @ . . . 0.27 0.35 182 ENSG00000136274 NACAD NACAD . . . 0.108 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.123 0.005 . . 37 . 0.069 . . 0.421 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.087 . . 0 0 0 0 0 0 . 0.254 . . 0.133 . . . . . . 0 0.255 . . . . . 0.159 . 0.007 . HET 0.01 rs200226621 . . . . . . . . . . . . V.48 . ENST00000490531 I.17 0.127 . 0.690000 O15069 . . Name\x3dnsv888001 . . 0.046 . . . 0 4.25e-05 0.0002 0 0.0002 0 0 0 0 0 0.0012 0 0 . 0.0020 0 0 . . 0.609 . 0.036 0.036000 . . 0.690000 . . 1.0E-221 0.001 0.137 . 0.016 0.001 . 0.274 . 0.108 0.036 -0.144 . . . rs200226621 rs200226621 1 1538 10 1/0 0,231,255 +rs113544772 7 45123780 A G - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123780 45123780 Chr7(GRCh37):g.45123780A>G 1999 1999 NM_001146334.1:c.1999T>C p.Ser667Pro p.Ser667Pro 2 1932 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.7469 0 rs113544772 yes no Frequency 1 G 0.000000 0 0.000260 0.000732 0.000251 0.000490 0.000000 0.000201 0.000117 0.000915 0.001056 0.000915 26 2 4 3 0 3 5 6 3 100068 2734 15968 6124 8042 14898 42902 6560 2840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 2 4 3 0 3 5 6 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.167 S Ser TCC 0.220 P Pro CCC 0.328 667 13 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.3 IV.32 unknown 0.0 0.0 253 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.T1999C:p.S667P NACAD:uc003tmt.3:exon2:c.T1999C:p.S667P NACAD:NM_001146334:exon2:c.T1999C:p.S667P . . 0.31666666 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.031 . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S667P|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.7193 -1.783 -1.719 c . . . . . 2.341e-03 . . . 0.0031 0.0023 0 0 0 0.0017 0 0.0028 0.0075 0.0038 0 0.0076 0.0077 0.0040 0 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.059 @ . . . 0.3 0.34 182 ENSG00000136274 NACAD NACAD . . . 0.394 0.201 . . . . . . . Likely_benign . 0 . 0.080 . . . . T 0.226 0.008 . . 37 . 0.056 . . 0.359 . . . 0.038 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.096 . . . . . 0.001 . 0.007 . HET 0.47 rs113544772 . . . . . . . . . . . . 0.1096 . ENST00000490531 2.VI -2.56 . 0.330000 O15069 . . Name\x3dnsv888001 . . 0.006 . . . 0 0.0002 0.0002 0.0005 0 0.0003 0.0001 0.0004 0.0002 0.0125 0.0029 0.0056 0 0 0.0050 0 0.0149 . . 0.609 . -0.767 -0.767000 . . 0.330000 . . 1.0E-253 0.000 0.063 . 0.043 0.000 . 0.001 . 0.092 -0.767 -2.000 . . . rs113544772 rs113544772 1 1538 10 1/0 0,255,255 +rs61740887 7 45123906 T G - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123906 45123906 Chr7(GRCh37):g.45123906T>G 1873 1873 NM_001146334.1:c.1873A>C p.Ile625Leu p.Ile625Leu 2 1806 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.7469 0 Cryptic Acceptor Strongly Activated 45123894 2.19386 0.001533 76.027 3.39739 0.005417 78.5819 rs61740887 yes no Frequency 1 T 0.000000 0 0.001071 0.005233 0.001051 0.000267 0.000956 0.000433 0.000630 0.002082 0.000948 0.005233 130 37 17 2 6 8 32 25 3 121438 7070 16170 7498 6278 18494 50756 12008 3164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 130 37 17 2 6 8 32 25 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -3.023 I Ile ATT 0.356 L Leu CTT 0.129 625 13 1 2 2 2 0 0 5.II 4.IX 111 111 5 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 215 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.A1873C:p.I625L NACAD:uc003tmt.3:exon2:c.A1873C:p.I625L NACAD:NM_001146334:exon2:c.A1873C:p.I625L . . 0.2 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.007 . . 110.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Ctt|I625L|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -2.6191 -2.643 -2.619 c . . . . . 2.813e-04 . . . 0 0.0003 0.0036 0.0063 0 0.0004 0 0 0 0.0002 0.0049 0.0093 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.101 . . exonic exonic exonic . . 0.052 @ . . . 0.26 0.36 182 ENSG00000136274 NACAD NACAD . . . 0.996 0.343 . . . . . . . Uncertain_significance . 0 . 0.099 . . . . T 0.056 0.003 . . 37 . 0.030 . . 0.305 . . . 0.007 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.126 . 0.008 . HET 0.06 rs61740887 . . . . . . . . . . . . IV.83 0.071918 ENST00000490531 I.47 -2.95 . 1.000000 O15069 . . . . . 0.008 . . . 0.0043 0.0006 0.0008 0.0001 0.0009 9.287e-05 0.0003 0.0004 0.0004 0.0068 0.0066 0.02 0.0074 0.0015 0.0194 0.0035 0.0065 . . 0.609 . -3.309 -3.309000 . . 1.000000 . . 1.0E-215 0.000 0.063 . 0.016 0.000 . 0.045 . 0.001 -3.309 -3.348 . . . rs61740887 rs61740887 1 1538 10 1/0 0,230,255 +rs377425677 7 45123925 C T - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution synonymous exon GRCh37 45123925 45123925 Chr7(GRCh37):g.45123925C>T 1854 1854 NM_001146334.1:c.1854G>A p.Lys618= p.Lys618Lys 2 1787 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.7469 0 rs377425677 yes no Frequency 1 C 0.000000 0 0.000196 0.000095 0.000505 0.000000 0.000127 0.000151 0.000150 0.000237 0.000283 0.000505 26 1 9 0 1 3 8 3 1 132942 10482 17808 7554 7886 19824 53172 12678 3538 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 1 9 0 1 3 8 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 K Lys AAG 0.575 K Lys AAA 0.425 618 234 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.G1854A:p.K618K NACAD:uc003tmt.3:exon2:c.G1854A:p.K618K NACAD:NM_001146334:exon2:c.G1854A:p.K618K . . 0.25409836 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K618|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -0.2816 . . . . . . . . 2.354e-04 . . . 0 0.0004 0.0038 0.0073 0 0.0004 0 0 0 0.0002 0.0051 0.0096 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.32 182 ENSG00000136274 NACAD NACAD . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377425677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0.0005 0 0.0001 9.365e-05 0.0001 0.0003 0.0002 0 0.0003 0 0 0 0.001 0.0004 0 . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . rs377425677 rs377425677 1 1538 10 1/0 0,230,255 +rs73692203 7 45125663 C T - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45125663 45125663 Chr7(GRCh37):g.45125663C>T 116 116 NM_001146334.1:c.116G>A p.Arg39Gln p.Arg39Gln 2 49 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.5975 0 rs73692203 yes no Frequency/1000G 2 C 0.000000 0 0.011582 0.043100 0.000000 0.000000 0.000000 0.001400 0.003437 0.033431 0.001222 0.000000 0.000000 0.000044 0.000096 0.000000 0.001543 0.033431 544 500 30 0 0 1 6 0 7 158280 14956 24558 8244 11546 22664 62714 9060 4538 0.000063 0.000669 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 5 5 0 0 0 0 0 0 0 534 490 30 0 0 1 6 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -3.265 R Arg CGG 0.207 Q Gln CAG 0.744 39 13 3 White-tuffed-ear marmoset 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.62 IV.32 unknown 0.0 0.0 255 PASS 0.02 0.01 . . 0.0026 0.043 0.012 0.0014 . . . ENSG00000136274:ENST00000490531:exon2:c.G116A:p.R39Q NACAD:uc003tmt.3:exon2:c.G116A:p.R39Q NACAD:NM_001146334:exon2:c.G116A:p.R39Q . . 0.5316456 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.122 . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R39Q|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.8741 -1.973 -1.874 c . . . . . 2.284e-03 . . . 0.0689 0.0025 0 0 0 0.0003 0 0 0.0578 0.0017 0 0 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.009 0.0116 . . . 0.15 0.36 182 ENSG00000136274 NACAD NACAD . . . 1.000 0.747 . 78 0.00120044 64976 20 0.000333411 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.020 . . 0.338 . . . 0.098 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.230 . . 0.063 . . . . . . 0 0.090 . . . . . 0.034 . 0.023 . HET 0 rs73692203 0.011 0.007 . . . . . 0.005494505494505495 0.02032520325203252 0.0 0.0 0.002638522427440633 2.1056 0.024074 ENST00000490531 4.VI -8.13 . 0.510000 O15069 . . Name\x3dnsv888001 . . 0.032 . . . 0.0349 0.0020 0.0012 0 0 0 0.0001 0.0014 4.412e-05 0.0324 0.0093 0.0024 0 0 0 6.684e-05 0.0020 . . 0.450 . -2.466 -2.466000 . . 0.510000 . . 1.0E-255 0.000 0.063 . 0.132 0.027 . 0.006 . 0.017 -2.466 -0.094 0.02 . rs73692203 rs73692203 rs73692203 1 1538 10 1/0 0,255,255 +rs145228445 7 48015811 C T - HUS1 5309 HUS1 checkpoint homolog (S. pombe) NM_004507.3 -1 3017 843 NP_004498.1 O60921 substitution intron GRCh37 48015811 48015811 Chr7(GRCh37):g.48015811C>T 465+516 465+516 NM_004507.3:c.465+516G>A p.? p.? 4 4 603760 516 5' 74.2497 4.89859 0.392769 0 74.2497 4.89859 0.392769 0 0 rs145228445 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008900 0.001400 0.003584 0.000344 0.003580 0.000000 0.000000 0.000000 0.004598 0.009159 0.004073 0.009159 111 3 3 0 0 0 69 32 4 30968 8726 838 302 1618 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 3 3 0 0 0 69 32 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 -0.198 255 PASS 0.002 0.0037 . . 0.01 . 0.002 0.0014 . 0.0089 . . . . . . 0.62068963 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.0157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing intronic intronic . . . 0.0020 . . . 0.21 0.05 182 ENSG00000136273 HUS1 HUS1 ENST00000433977:exon4:c.609+1G>A . . . . . 418 0.00643314 64976 409 0.00681826 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145228445 . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . . . . . . . . . . 0.0003 0.0036 0.0036 0 0 0.0092 0.0046 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145228445 rs145228445 1 1538 10 1/0 0,255,255 +rs78634768 7 48547511 C A - ABCA13 14638 ATP-binding cassette, sub-family A (ABC1), member 13 NM_152701.4 1 17184 15177 NP_689914.3 Q86UQ4 substitution missense exon GRCh37 48547511 48547511 Chr7(GRCh37):g.48547511C>A 13390 13390 NM_152701.4:c.13390C>A p.Leu4464Met p.Leu4464Met 50 607807 44 3' 80.399 10.392 0.102705 5.67439 80.399 10.392 0.102705 5.62912 0 rs78634768 yes no Frequency/1000G 2 C 0.000000 0 0.003994 0.000800 0.000000 0.000000 0.013900 0.007200 0.008785 0.002595 0.008434 0.000297 0.000000 0.000822 0.012813 0.013900 0.011070 0.013900 2414 62 289 3 0 25 1607 357 71 274800 23892 34268 10096 18628 30398 125420 25684 6414 0.000131 0.000000 0.000175 0.000000 0.000000 0.000066 0.000175 0.000234 0.000000 18 0 3 0 0 1 11 3 0 2378 62 283 3 0 23 1585 351 71 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8405 4246 12651 91 12 103 0.0107109 0.00281822 0.0080759 0.0107109 0.00281822 0.0080759 76 transversion C A C>A 1.000 1.335 L Leu CTG 0.404 M Met ATG 1.000 4464 12 11 Zebra finch 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 35.68 6.VIII Deleterious 0.02 III.77 255 PASS 0.0041 0.01 0.01 0.01 0.02 0.0008 0.004 0.0072 . 0.014 . . . ABCA13:NM_152701:exon50:c.C13390A:p.L4464M . . 0.4857143 . . @ 34 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.633 . @ . . . . . 1 0.500 . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L4464M|ABCA13|mRNA|CODING|NM_152701|NM_152701.ex.50) 0.0028 0.0081 0.011 0.0028 0.0081 0.011 . 0.2933 0.295 0.293 c . . . . . 8.388e-03 . . . 0.0028 0.0082 0.0068 0 0.0161 0.0131 0.0033 0.0007 0.0024 0.0095 0.0065 0 0.0141 0.0145 0.0069 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.877 . . exonic exonic exonic . . 0.402 0.0040 . . . 0.42 0.42 182 ENSG00000179869 ABCA13 ABCA13 . . . 0.000 0.057 . 761 0.011712 64976 741 0.0123529 59986 Likely_benign . 0 . 0.402 . . . . . . . . . 37 . 0.813 . . 0.850 . . . 0.492 0.343 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.140 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.341 . . . . . 0.327 . 0.627 . HET 0.07 rs78634768 . . . . . . . 0.011446886446886446 0.0040650406504065045 0.013812154696132596 0.005244755244755245 0.01978891820580475 VIII.54 0.002228 . 5.V 3.VI . 0.280000 . . . Name\x3dnsv830992 0.008076 . 0.378 . . 3.VI 0.0023 0.0087 0.0083 0.0003 0 0.0144 0.0127 0.0105 0.0008 0.0031 0.0098 0.0155 0 0 0.0109 0.0140 0.0143 . . 0.133 . 1.209 1.209000 . . 0.280000 . . 1.0E-255 1.000 0.715 . 0.523 0.995 . 0.239 . 0.490 1.209 0.871 0.02 . . rs78634768 rs78634768 1 1538 10 1/0 0,255,255 +rs772729575 7 48965308 G A - CDC14C 22427 Cell division cycle 14C NR_003595.1 1 2893 0 substitution exon GRCh37 48965308 48965308 Chr7(GRCh37):g.48965308G>A 1152 1152 NR_003595.1:n.1152G>A 1 rs772729575 yes no Frequency 1 A 0.000000 0 0.000309 0.001662 0.000146 0.000000 0.000433 0.000000 0.000186 0.000418 0.000160 0.001662 83 36 5 0 8 0 23 10 1 268816 21658 34218 10090 18486 30768 123408 23946 6242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 36 5 0 8 0 23 10 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.039 0.448 220 PASS . . . . . . . . . . . . CDC14C:uc010kyv.1:exon1:c.G1040A:p.R347K . . . 0.21266969 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 221.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E384|CDC14C|Non-coding_transcript|NON_CODING|NR_003595|NR_003595.ex.1) . . . . . . . -0.1654 . . . . . . . . 3.946e-05 . . . 0 1.104e-05 0 0 0 2.377e-05 0 0 0 9.424e-06 0 0 0 1.842e-05 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.32 182 ENSG00000218305 CDC14C CDC14C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs772729575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 2.858e-05 2.98e-05 0 5.802e-05 0 2.694e-05 0 0 0.0053 0.0032 0.0061 0 0.0056 0.0040 0.0017 0.0013 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs399340 rs399340 rs399340 rs399340 1 1538 10 1/0 0,203,255 +rs760353111 7 50057888 C A - ZPBP 15662 Zona pellucida binding protein NM_007009.2 -1 1227 1056 NP_008940.2 Q9BS86 substitution missense exon GRCh37 50057888 50057888 Chr7(GRCh37):g.50057888C>A 731 731 NM_007009.2:c.731G>T p.Gly244Val p.Gly244Val 6 608498 25 3' 83.0231 5.37123 0.627815 0 83.0231 5.37123 0.627815 0 0 Zona-pellucida-binding rs760353111 yes no Frequency 1 C 0.000000 0 0.000043 0.000000 0.000029 0.000000 0.000000 0.000000 0.000087 0.000000 0.000000 0.000087 12 0 1 0 0 0 11 0 0 275884 24010 34240 10136 18790 30770 125996 25526 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 1 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 1.000 1.255 G Gly GGA 0.246 V Val GTA 0.114 244 11 9 Armadillo -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 137.77 67.15 Deleterious 0.02 III.78 bad 4.604E-3 0.2064 255 PASS . . . . . . . . . . . . . . . . 0.53846157 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.609 . @ . . . . . 1 0.669 . . 13.0 . . . . . . . . . . 0.3044 0.258 0.304 c . . . . . 3.948e-05 . . . 0 3.352e-05 0 0 0 7.21e-05 0 0 0 4.755e-05 0 0 0 9.268e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.520 . . exonic exonic exonic . . 0.359 @ . . . . . . ENSG00000042813 ZPBP ZPBP . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . 0.257 . . . . T 0.324 0.013 . . 37 . 0.518 . . 0.501 . . . 0.576 0.516 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.410 . . 0 0 0 0 0 0 . 0.542 . . 0.551 . . . . . . 0 0.306 . . . . . 0.288 . 0.534 . HET 0.2 rs760353111 . . . . . . . . . . . . VII.01 . . 4.I III.22 . . . . . Name\x3dnsv830997 . . 0.322 . . III.22 0 4.489e-05 2.993e-05 0 0 0 9.005e-05 0 0 0 3.242e-05 0 0 0 0 6.688e-05 0 . . 0.133 . 1.307 1.307000 . . . . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.274 . 0.437 1.307 0.598 . . . . . 1 1538 10 1/0 0,255,255 +rs202059826 7 50778562 G A - GRB10 4564 Growth factor receptor bound protein 10 NM_001350815.1 -1 5233 1899 NP_001337744.1 substitution intron GRCh37 50778562 50778562 Chr7(GRCh37):g.50778562G>A 254-36207 254-36207 NM_001350815.1:c.254-36207C>T p.? p.? 3 2 601523 -36207 3' 93.2727 9.66947 0.944598 12.1039 93.2727 9.66947 0.944598 12.1039 0 rs202059826 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.004462 0.001663 0.001370 0.000901 0.000000 0.002193 0.007489 0.004228 0.004403 0.007489 1201 38 47 9 0 67 903 109 28 269180 22846 34314 9992 18752 30554 120582 25780 6360 0.000074 0.000088 0.000000 0.000000 0.000000 0.000065 0.000100 0.000000 0.000629 10 1 0 0 0 1 6 0 2 1181 36 47 9 0 65 891 109 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3944 1750 5694 38 2 40 0.00954294 0.00114155 0.00697593 0.00954294 0.00114155 0.00697593 188 transition C T C>T 0.004 -0.037 255 PASS . . . . . . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5555556 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . 0.0011 0.007 0.0095 0.0011 0.007 0.0095 . -0.3427 . . . . . . . . 4.580e-03 . . . 0.0014 0.0040 0.0010 0 0.0050 0.0067 0.0030 0.0023 0.0012 0.0044 0.0009 0 0.0051 0.0068 0.0029 0.0024 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.45 0.15 182 ENSG00000106070 GRB10 GRB10 . . . . . . 396 0.00609456 64976 385 0.00641816 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202059826 . . . . . . . . . . . . . . . . . . . . . . . 0.006976 . . . . . 0.0011 0.0044 0.0013 0.0009 0 0.0041 0.0075 0.0046 0.0022 0.0025 0.0050 0.0036 0 0 0.0052 0.0073 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0095 . . rs202059826 rs202059826 1 1538 10 1/0 0,255,255 +. 7 51093156 TGAG T - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 deletion intron GRCh37 51093157 51093159 Chr7(GRCh37):g.51093157_51093159del 3676-231 3676-229 NM_001287436.2:c.3676-231_3676-229del p.? p.? 13 12 610317 -229 3' 82.1079 VII.83 0.936554 X.36 82.1079 VII.83 0.936554 X.36 0 rs541374897 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.001552 0.000574 0.005967 0.000000 0.000000 0.000000 0.002271 0.000286 0.003055 0.005967 48 5 5 0 0 0 34 1 3 30928 8716 838 302 1622 0 14974 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 5 5 0 0 0 34 1 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes CTC 255 Pass . . . . . 0.0008 0.0014 0.0029 . 0.004 . . . . . . 0.42307693 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs541374897 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830999 . . . . . . . . . . . . . . . 0.0006 0.0016 0.0060 0 0 0.0003 0.0023 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,37 +. 7 51150852 T G - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 substitution synonymous exon GRCh37 51150852 51150852 Chr7(GRCh37):g.51150852T>G 1170 1170 NM_001287436.2:c.1170A>C p.Pro390= p.Pro390Pro 8 610317 74 3' 82.514 9.25208 0.983667 7.61489 82.514 9.25208 0.983667 VII.04 0 rs957407072 no no 0 T 0.000000 0 0.003656 0.001458 0.011079 0.005303 0.004846 0.003435 0.002314 0.001570 0.010240 0.011079 307 15 91 17 28 36 88 9 23 83980 10288 8214 3206 5778 10480 38034 5734 2246 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 307 15 91 17 28 36 88 9 23 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.504 -1.570 P Pro CCA 0.274 P Pro CCC 0.328 390 177 PASS . . . . . . . . . . . . . COBL:NM_001287436:exon8:c.A1170C:p.P390P . . 0.10869565 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.9643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . 19.8754 . ENST00000452534 V.56 -9.8 . . . . . Name\x3dnsv830999 . . . . . . 0.0016 0.0044 0.0117 0.0057 0.0063 0.0019 0.0026 0.0114 0.0034 0.0014 0.0015 0 0 0 0.0009 0.0015 0.0075 . . . . -2.001 -2.001000 . . . . . 1.0E-177 . . . . . . . . . -2.001 . . . . . . 1 1538 10 1.I 0,0,0 +. 7 51153024 GTACAATCAAAGTACTTTGTACCTATGAAGT G - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 deletion intron GRCh37 51153025 51153054 Chr7(GRCh37):g.51153025_51153054del 958-53 958-24 NM_001287436.2:c.958-53_958-24del p.? p.? 7 6 610317 -24 3' 86.6537 9.69825 0.996284 13.8246 86.6537 9.69825 0.996284 14.1245 0 51153049 -75.6176 rs759968885 yes no Frequency 1 0.000000 0 ACTTCATAGGTACAAAGTACTTTGATTGTA 255 Pass . . . . . . . . . . . . . . . . 0.53333336 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60 . . . . . . . . . . . . . . . . . . . 2.373e-05 . . . 0 3.626e-05 0 0 0 5.006e-05 0 8.914e-05 0 3.054e-05 0 0 0 3.83e-05 0 8.99e-05 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs759968885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,27 +. 7 51153056 CAAAGA C - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 deletion intron GRCh37 51153057 51153061 Chr7(GRCh37):g.51153057_51153061del 958-60 958-56 NM_001287436.2:c.958-60_958-56del p.? p.? 7 6 610317 -56 3' 86.6537 9.69825 0.996284 13.8246 86.6537 9.69825 0.996284 13.6177 0 TCTTT 255 Pass . . . . . . . . . . . . . . . . 0.5 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,30 +. 7 51153061 A AC - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 insertion intron GRCh37 51153061 51153062 Chr7(GRCh37):g.51153061_51153062insC 958-61 958-60 NM_001287436.2:c.958-61_958-60insG p.? p.? 7 6 610317 -60 3' 86.6537 9.69825 0.996284 13.8246 86.6537 9.69825 0.996284 13.6336 0 rs147253289 yes no Frequency/1000G 2 0.025160 AGGAAAGAC 126 G 255 Pass . . . . . . . . . . . . . . . . 0.1875 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147253289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs147253289 rs147253289 1 1538 10 1.I 0,7,73 +rs796406189 (chr7:51459461 C/T) 7 51459461 C T Not on a known gene +rs796928771 (chr7:51459472 C/T) 7 51459472 C T Not on a known gene +rs796079698 (chr7:51459487 T/A) 7 51459487 T A Not on a known gene +rs796127385 (chr7:51459521 A/G) 7 51459521 A G Not on a known gene +rs796770714 (chr7:51459526 G/T) 7 51459526 G T Not on a known gene +rs796872312 (chr7:51459527 A/G) 7 51459527 A G Not on a known gene +rs796081135 (chr7:51459545 A/G) 7 51459545 A G Not on a known gene +rs796668039 (chr7:51459549 C/T) 7 51459549 C T Not on a known gene +rs796831321 (chr7:51459562 G/A) 7 51459562 G A Not on a known gene +rs796565184 (chr7:51459577 G/A) 7 51459577 G A Not on a known gene +. (chr7:51459585 T/C) 7 51459585 T C Not on a known gene +. (chr7:51459587 A/G) 7 51459587 A G Not on a known gene +rs138407473 7 55270463 C T - EGFR 3236 Epidermal growth factor receptor NM_005228.4 1 6353 3633 NP_005219.2 P00533 substitution intron GRCh37 55270463 55270463 Chr7(GRCh37):g.55270463C>T 3271+145 3271+145 NM_005228.4:c.3271+145C>T p.? p.? 27 27 131550 145 5' 87.1266 10.0978 0.926111 8.42735 87.1266 10.0978 0.926111 8.42735 0 rs138407473 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.001419 0.000742 0.001171 0.000941 0.000000 0.000132 0.002588 0.000337 0.001645 0.002588 247 12 29 8 0 3 182 5 8 174096 16180 24768 8504 11830 22796 70312 14842 4864 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 247 12 29 8 0 3 182 5 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.086 255 PASS . 0.0014 . . 0.004 . 0.001 . . 0.005 . . . . . . 0.51898736 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||EGFR|mRNA|CODING|NM_005228|) . . . . . . . -0.4102 . . . . . . . . 7.751e-04 . . . 0.0009 0.0011 0 0 0 0.0022 0.0053 0 0 0.0007 0 0 0.0006 0.0021 0 0 . . . . . . UTR3 UTR3 intronic . . . 0.0010 . . . 0.44 0.57 182 ENSG00000146648 EGFR EGFR ENST00000455089:c.*5C>T . . . . . 120 0.00184684 64976 116 0.00193378 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138407473 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2734425 . . . . . . 0.0007 0.0014 0.0011 0.0007 0 0.0003 0.0028 0.0018 0.0001 0.0008 0.0014 0.0024 0.0066 0 0.0006 0.0019 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs138407473 rs138407473 1 1538 10 1/0 0,255,255 +. (chr7:55814452 G/C) 7 55814452 G C Not on a known gene +. (chr7:55815527 G/A) 7 55815527 G A Not on a known gene +. (chr7:55815589 C/T) 7 55815589 C T Not on a known gene +rs145162978 7 56022760 A G - MRPS17 14047 Mitochondrial ribosomal protein S17 NM_015969.2 1 586 393 NP_057053.1 Q9Y2R5 substitution synonymous exon GRCh37 56022760 56022760 Chr7(GRCh37):g.56022760A>G 282 282 NM_015969.2:c.282A>G p.Pro94= p.Pro94Pro 3 611980 159 3' 78.4724 XI.11 0.950195 8.45335 78.4724 XI.11 0.950195 8.45335 0 Cryptic Donor Strongly Activated 56022760 0.000975 56.5625 2.70272 0.047685 68.6985 rs145162978 yes no Frequency/1000G 2 A 0.000000 0 0.001997 0.000800 0.000000 0.000000 0.008000 0.001400 0.005161 0.001748 0.003051 0.005615 0.000000 0.001040 0.008727 0.002365 0.004329 0.008727 1431 42 105 57 0 32 1106 61 28 277248 24030 34420 10152 18868 30782 126734 25794 6468 0.000050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000309 7 0 0 0 0 0 6 0 1 1417 42 105 57 0 32 1094 61 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8522 4398 12920 78 8 86 0.00906977 0.00181571 0.00661233 0.00906977 0.00181571 0.00661233 96 transition A G A>G 0.378 -1.247 P Pro CCA 0.274 P Pro CCG 0.115 94 255 PASS 0.002 0.0037 0.0028 . 0.01 0.0008 0.002 0.0014 . 0.008 . . MRPS17:uc003trd.3:exon3:c.A282G:p.P94P MRPS17:NM_015969:exon3:c.A282G:p.P94P . . 0.60714287 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 84.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P94|MRPS17|mRNA|CODING|NM_015969|NM_015969.ex.3) 0.0018 0.0066 0.0091 0.0018 0.0066 0.0091 . 0.8223 . . . . . . . . 5.501e-03 . . . 0.0012 0.0043 0.0018 0 0.0011 0.0079 0 0.0009 0.0012 0.0052 0.0018 0 0.0024 0.0091 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0020 . . . 0.21 0.21 182 . MRPS17 MRPS17 . . . . . . 454 0.0069872 64976 445 0.0074184 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145162978 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006612 . . . . . 0.0018 0.0052 0.0030 0.0058 0 0.0024 0.0089 0.0047 0.0010 0.0017 0.0047 0.0060 0 0 0.0020 0.0078 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs145162978 rs145162978 1 1538 10 1/0 0,255,255 +. (chr7:56438740 T/C) 7 56438740 T C Not on a known gene +. (chr7:56440038 T/C) 7 56440038 T C Not on a known gene +rs878872013 (chr7:56441332 T/C) 7 56441332 T C Not on a known gene +. (chr7:56446063 C/T) 7 56446063 C T Not on a known gene +rs4717802 7 57023640 A G - MIR4283-1 38238 MicroRNA 4283-1 NR_036246.1 -1 80 0 substitution upstream GRCh37 57023640 57023640 Chr7(GRCh37):g.57023640A>G -69 -69 NR_036246.1:n.-69T>C p.? p.? 1 rs4717802 no no 0 A 0.000000 0 0.002463 0.002331 0.000000 0.000000 0.000000 0.000000 0.004777 0.000000 0.000000 0.004777 5 2 0 0 0 0 3 0 0 2030 858 36 14 64 0 628 368 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.52380955 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 147.0 . . . . . . . . . . -0.4087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.31 0.27 182 ENSG00000264426 MIR4283-1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0025 0 0 0 0 0.0048 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4717802 rs4717802 rs4717802 rs4717802 1 1538 10 1/0 0,250,255 +rs4717802 7 57023640 A G - MIR4283-2 38296 MicroRNA 4283-2 NR_036270.1 -1 80 0 substitution upstream GRCh37 57023640 57023640 Chr7(GRCh37):g.57023640A>G -69 -69 NR_036270.1:n.-69T>C p.? p.? 1 rs4717802 no no 0 A 0.000000 0 0.002463 0.002331 0.000000 0.000000 0.000000 0.000000 0.004777 0.000000 0.000000 0.004777 5 2 0 0 0 0 3 0 0 2030 858 36 14 64 0 628 368 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.52380955 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 147.0 . . . . . . . . . . -0.4087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.31 0.27 182 ENSG00000264426 MIR4283-1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0025 0 0 0 0 0.0048 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4717802 rs4717802 rs4717802 rs4717802 1 1538 10 1/0 0,250,255 +. (chr7:62858839 A/C) 7 62858839 A C Not on a known gene +rs572880711 (chr7:63204524 A/G) 7 63204524 A G Not on a known gene +rs184281558 (chr7:63206221 G/A) 7 63206221 G A Not on a known gene +rs183999742 (chr7:65082640 A/T) 7 65082640 A T Not on a known gene +rs144097623 7 65864704 A C - LINC00174 27788 Long intergenic non-protein coding RNA 174 NR_026873.1 -1 4424 0 substitution exon GRCh37 65864704 65864704 Chr7(GRCh37):g.65864704A>C 166 166 NR_026873.1:n.166T>G 2 -26 5' 91.4889 X.58 0.995143 5.74184 91.4889 X.58 0.995143 6.62919 0 rs144097623 yes no Frequency/1000G 2 A 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.004000 0.001400 0.004583 0.002290 0.001193 0.000000 0.000000 0.000000 0.007061 0.002290 0.007128 0.007061 142 20 1 0 0 0 106 8 7 30984 8734 838 302 1622 0 15012 3494 982 0.014085 0.000000 0.000000 0.000000 0.000000 0.000000 0.009434 0.000000 0.142857 2 0 0 0 0 0 1 0 1 138 20 1 0 0 0 104 8 5 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion T G T>G 0.028 0.286 255 PASS . 0.0023 0.0028 . 0.01 . 0.0012 0.0014 . 0.004 0.001 . LINC00174:uc003tux.4:exon2:c.T46G:p.Y16D . . . 0.5205479 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Gat|Y56D|LINC00174|Non-coding_transcript|NON_CODING|NR_026873|NR_026873.ex.2) . . . . . . . -0.2919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0012 . . . 0.37 0.15 182 ENSG00000179406 LINC00174 LINC00174 . . . . . . 451 0.00694102 64976 445 0.0074184 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144097623 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv888326 . . . . . . . . . . . . . . . 0.0023 0.0046 0.0012 0 0 0.0023 0.0071 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144097623 rs144097623 1 1538 10 1/0 0,255,255 +rs61758774 7 66274184 G A - GTF2IRD1P1 44136 GTF2I repeat domain containing 1 pseudogene 1 NR_003934.1 -1 2426 0 substitution downstream GRCh37 66274184 66274184 Chr7(GRCh37):g.66274184G>A *796 *796 NR_003934.1:n.*796C>T p.? p.? 11 2347 3' 90.4229 XI.08 0.986238 5.42193 90.4229 XI.08 0.986238 5.42193 0 rs61758774 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.004000 0.005800 0.007346 0.001540 0.003341 0.006502 0.000106 0.006498 0.009870 0.012213 0.007887 0.012213 2036 37 115 66 2 200 1250 315 51 277144 24022 34416 10150 18866 30780 126652 25792 6466 0.000101 0.000000 0.000000 0.000000 0.000000 0.000130 0.000158 0.000155 0.000000 14 0 0 0 0 2 10 2 0 2008 37 115 66 2 196 1230 311 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4398 12924 74 8 82 0.00860465 0.00181571 0.00630478 0.00860465 0.00181571 0.00630478 70 transition C T C>T 0.039 -0.198 255 PASS 0.002 0.0023 0.01 . 0.0026 0.0008 0.0028 0.0058 . 0.004 0.0051 . . . . . 0.45614034 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . . 0.0018 0.0063 0.0086 0.0018 0.0063 0.0086 . 0.3106 . . . . . . . . 6.945e-03 . . . 0.0016 0.0065 0.0037 0.0002 0.0092 0.0090 0.0099 0.0065 0.0018 0.0067 0.0037 0.0001 0.0103 0.0086 0.0086 0.0065 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.57 0.58 182 . RABGEF1 RABGEF1 . . . . . . 518 0.00797217 64976 504 0.00840196 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61758774 . . . . . . . . . . . . . . . . . . . . . . . 0.006305 . . . . . 0.0012 0.0070 0.0034 0.0066 0.0001 0.0125 0.0091 0.0073 0.0065 0.0022 0.0099 0.0012 0.0033 0 0.0103 0.0159 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61758774 rs61758774 rs61758774 rs61758774 1 1538 10 1/0 0,255,255 +rs61758774 7 66274184 G A - RABGEF1 17676 RAB guanine nucleotide exchange factor (GEF) 1 NM_001287061.1 1 3869 1518 NP_001273990.1 substitution synonymous exon GRCh37 66274184 66274184 Chr7(GRCh37):g.66274184G>A 1431 1431 NM_001287061.1:c.1431G>A p.Pro477= p.Pro477Pro 9 609700 312 3' 81.2504 8.40568 0.693604 6.93708 81.2504 8.40568 0.693604 6.93708 0 rs61758774 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.004000 0.005800 0.007346 0.001540 0.003341 0.006502 0.000106 0.006498 0.009870 0.012213 0.007887 0.012213 2036 37 115 66 2 200 1250 315 51 277144 24022 34416 10150 18866 30780 126652 25792 6466 0.000101 0.000000 0.000000 0.000000 0.000000 0.000130 0.000158 0.000155 0.000000 14 0 0 0 0 2 10 2 0 2008 37 115 66 2 196 1230 311 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4398 12924 74 8 82 0.00860465 0.00181571 0.00630478 0.00860465 0.00181571 0.00630478 70 transition G A G>A 0.039 -0.198 P Pro CCG 0.115 P Pro CCA 0.274 477 255 PASS 0.002 0.0023 0.01 . 0.0026 0.0008 0.0028 0.0058 . 0.004 0.0051 . . . . . 0.45614034 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . . 0.0018 0.0063 0.0086 0.0018 0.0063 0.0086 . 0.3106 . . . . . . . . 6.945e-03 . . . 0.0016 0.0065 0.0037 0.0002 0.0092 0.0090 0.0099 0.0065 0.0018 0.0067 0.0037 0.0001 0.0103 0.0086 0.0086 0.0065 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.57 0.58 182 . RABGEF1 RABGEF1 . . . . . . 518 0.00797217 64976 504 0.00840196 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61758774 . . . . . . . . . . . . . . . . . . . . . . . 0.006305 . . . . . 0.0012 0.0070 0.0034 0.0066 0.0001 0.0125 0.0091 0.0073 0.0065 0.0022 0.0099 0.0012 0.0033 0 0.0103 0.0159 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61758774 rs61758774 rs61758774 rs61758774 1 1538 10 1/0 0,255,255 +rs566468064 7 72416279 A G - POM121 19702 POM121 transmembrane nucleoporin NM_001257190.2 1 7041 3000 NP_001244119.1 substitution intron GRCh37 72416279 72416279 Chr7(GRCh37):g.72416279A>G 2857+32 2857+32 NM_001257190.2:c.2857+32A>G p.? p.? 15 15 615753 32 5' 81.1791 9.86249 0.994641 9.00674 81.1791 9.86249 0.994641 9.20194 0 Cryptic Acceptor Strongly Activated 72416290 0.702307 0.002341 75.5461 2.10441 0.004332 75.5461 rs566468064 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000800 0.002000 0.000000 0.002000 0.000000 0.000417 0.000442 0.000432 0.000320 0.000335 0.000744 0.000414 0.000082 0.000492 0.000744 107 10 14 3 6 21 48 2 3 256810 22618 32400 9368 17922 28210 115808 24390 6094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 107 10 14 3 6 21 48 2 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -3.911 176 PASS . . . . . 0.0008 0.001 . . 0.002 0.002 . . . . . 0.10526316 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -1.0080 . . . . . . . . 1.343e-03 . . . 0.0016 0.0016 0.0004 0.0002 0 0.0018 0 0.0028 0.0016 0.0015 0.0004 0.0002 0.0002 0.0017 0 0.0027 . . . . . . intronic intronic intronic . . . 0.0010 . . . . . . ENSG00000196313 POM121 POM121 . . . . . . 26 0.000400148 64976 24 0.000400093 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs566468064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0004 0.0003 0.0002 9.568e-05 0.0004 0.0006 0.0007 0.0006 0.0003 0 0 0.0012 0 0.0002 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs200664890 7 72416293 G A - POM121 19702 POM121 transmembrane nucleoporin NM_001257190.2 1 7041 3000 NP_001244119.1 substitution intron GRCh37 72416293 72416293 Chr7(GRCh37):g.72416293G>A 2857+46 2857+46 NM_001257190.2:c.2857+46G>A p.? p.? 15 15 615753 46 5' 81.1791 9.86249 0.994641 9.00674 81.1791 9.86249 0.994641 8.57752 0 Cryptic Donor Strongly Activated 72416294 0.012117 63.0095 II.56 0.143731 71.9703 rs200664890 yes no Frequency 1 0.000000 0 0.001184 0.000530 0.000497 0.003092 0.000000 0.002749 0.001365 0.000313 0.000917 0.003092 268 11 14 25 0 69 137 7 5 226382 20764 28156 8086 16066 25098 100380 22380 5452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 268 11 14 25 0 69 137 7 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.044 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.2264 . . . . . . . . 2.214e-03 . . . 0.0023 0.0027 0.0003 0.0002 0.0004 0.0032 0.0021 0.0043 0.0026 0.0027 0.0003 0 0.0008 0.0032 0.0024 0.0042 . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.2 182 ENSG00000196313 POM121 POM121 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs200664890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0014 0.0005 0.0032 0 0.0004 0.0016 0.0011 0.0027 0.0003 9.702e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs200664890 rs200664890 1 1538 10 1/0 0,214,255 +. 7 72420420 CT C - NSUN5P2 16609 NOP2/Sun domain family, member 5 pseudogene 2 NR_033323.3 -1 1767 0 deletion exon GRCh37 72420421 72420421 Chr7(GRCh37):g.72420421del 895 895 NR_033323.3:n.895del 7 -37 5' 86.3702 9.25272 0.987812 8.05146 86.3702 9.25272 0.987812 6.02367 0 rs72283468 yes no Frequency/1000G 2 0.000000 0 0.000072 0.000381 0.000087 0.000000 0.000000 0.000000 0.000040 0.000000 0.000465 0.000381 20 9 3 0 0 0 5 0 3 276318 23594 34382 10152 18866 30778 126314 25778 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 9 3 0 0 0 5 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM111453 Ovary 0.001179 848 A 255 Pass 0.01 0.02 0.02 0.02 0.01 . . . . . . . . . . . 0.16455697 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 79 . . . . . . . . . . . . . . . . . . . 4.737e-05 . . . 0 5.539e-05 8.657e-05 0 0 7.156e-05 0 6.062e-05 0 5.674e-05 8.927e-05 0 0 7.389e-05 0 6.097e-05 . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000106133 NSUN5P2 NSUN5P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs72283468 . . . . . . ID\x3dCOSM111453\x3bOCCURENCE\x3d1(ovary) . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.477e-05 8.942e-05 0 0 0 2.694e-05 0.0002 0 0.0006 0.0003 0 0 0 0 0.0001 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs72283468 rs72283468 1 1538 10 1.I 0,6,78 +. 7 72420420 CT C - POM121 19702 POM121 transmembrane nucleoporin NM_001257190.2 1 7041 3000 NP_001244119.1 deletion 3'UTR GRCh37 72420423 72420423 Chr7(GRCh37):g.72420423del *1414 *1414 NM_001257190.2:c.*1414del p.? p.? 16 615753 1557 3' 98.4516 9.40246 0.949348 6.74927 98.4516 9.40246 0.949348 6.74927 0 rs72283468 yes no Frequency/1000G 2 0.000000 0 0.000072 0.000381 0.000087 0.000000 0.000000 0.000000 0.000040 0.000000 0.000465 0.000381 20 9 3 0 0 0 5 0 3 276318 23594 34382 10152 18866 30778 126314 25778 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 9 3 0 0 0 5 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM111453 Ovary 0.001179 848 T 255 Pass 0.01 0.02 0.02 0.02 0.01 . . . . . . . . . . . 0.16455697 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 79 . . . . . . . . . . . . . . . . . . . 4.737e-05 . . . 0 5.539e-05 8.657e-05 0 0 7.156e-05 0 6.062e-05 0 5.674e-05 8.927e-05 0 0 7.389e-05 0 6.097e-05 . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000106133 NSUN5P2 NSUN5P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs72283468 . . . . . . ID\x3dCOSM111453\x3bOCCURENCE\x3d1(ovary) . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.477e-05 8.942e-05 0 0 0 2.694e-05 0.0002 0 0.0006 0.0003 0 0 0 0 0.0001 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs72283468 rs72283468 1 1538 10 1.I 0,6,78 +rs400282 7 72420448 C G - NSUN5P2 16609 NOP2/Sun domain family, member 5 pseudogene 2 NR_033323.3 -1 1767 0 substitution exon GRCh37 72420448 72420448 Chr7(GRCh37):g.72420448C>G 868 868 NR_033323.3:n.868G>C 7 53 3' 85.5562 10.374 0.83841 VII.26 85.5562 10.374 0.83841 VII.01 0 rs400282 yes no Frequency/1000G 2 0.000000 0 0.002196 0.001500 0.004100 0.000000 0.004000 0.001400 0.000544 0.002481 0.000233 0.000000 0.001061 0.000747 0.000294 0.000000 0.000466 0.002481 150 59 8 0 20 23 37 0 3 275620 23776 34396 10138 18858 30776 125754 25478 6444 0.000007 0.000084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 148 57 8 0 20 23 37 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM297005|COSM297005|COSM297005|COSM297005|COSM297005 Urinary tract|Large intestine|Kidney|Central nervous system|Breast 0.001488|0.000896|0.000578|0.000416|0.000408 672|2231|1729|2405|2453 transversion G C G>C 0.362 -1.893 219 PASS . . . . . 0.0015 0.0022 0.0014 . 0.004 0.0041 . . . . . 0.21212122 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 99.0 . . . . . . . . . . -0.6367 . . . . . . . . 5.605e-04 . . . 0.0019 0.0006 0.0002 0.0011 0 0.0004 0 0.0006 0.0020 0.0005 0.0002 0.0014 0 0.0003 0 0.0006 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0022 . . . 0.49 0.72 182 ENSG00000106133 NSUN5P2 NSUN5P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 rs400282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0005 0.0002 0 0.0011 0 0.0003 0.0005 0.0007 0.0023 0.0009 0.0012 0 0.0006 0 0.0003 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs400282 rs400282 rs400282 rs400282 1 1538 10 1/0 0,236,255 +rs400282 7 72420448 C G - POM121 19702 POM121 transmembrane nucleoporin NM_001257190.2 1 7041 3000 NP_001244119.1 substitution 3'UTR GRCh37 72420448 72420448 Chr7(GRCh37):g.72420448C>G *1439 *1439 NM_001257190.2:c.*1439C>G p.? p.? 16 615753 1582 3' 98.4516 9.40246 0.949348 6.74927 98.4516 9.40246 0.949348 6.74927 0 rs400282 yes no Frequency/1000G 2 0.000000 0 0.002196 0.001500 0.004100 0.000000 0.004000 0.001400 0.000544 0.002481 0.000233 0.000000 0.001061 0.000747 0.000294 0.000000 0.000466 0.002481 150 59 8 0 20 23 37 0 3 275620 23776 34396 10138 18858 30776 125754 25478 6444 0.000007 0.000084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 148 57 8 0 20 23 37 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM297005|COSM297005|COSM297005|COSM297005|COSM297005 Urinary tract|Large intestine|Kidney|Central nervous system|Breast 0.001488|0.000896|0.000578|0.000416|0.000408 672|2231|1729|2405|2453 transversion C G C>G 0.362 -1.893 219 PASS . . . . . 0.0015 0.0022 0.0014 . 0.004 0.0041 . . . . . 0.21212122 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 99.0 . . . . . . . . . . -0.6367 . . . . . . . . 5.605e-04 . . . 0.0019 0.0006 0.0002 0.0011 0 0.0004 0 0.0006 0.0020 0.0005 0.0002 0.0014 0 0.0003 0 0.0006 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0022 . . . 0.49 0.72 182 ENSG00000106133 NSUN5P2 NSUN5P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 rs400282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0005 0.0002 0 0.0011 0 0.0003 0.0005 0.0007 0.0023 0.0009 0.0012 0 0.0006 0 0.0003 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs400282 rs400282 rs400282 rs400282 1 1538 10 1/0 0,236,255 +. 7 72431877 T C - TRIM74 17453 Tripartite motif containing 74 NM_001317815.1 -1 1289 753 NP_001304744.1 Q86UV6 substitution splice site GRCh37 72431877 72431877 Chr7(GRCh37):g.72431877T>C 495+4 495+4 NM_001317815.1:c.495+4A>G p.? p.? 3 3 612550 4 5' 70.7608 7.81871 0.894479 XI.57 60.6802 0.437433 0.018141 7.84088 -0.688744 transition A G A>G 1.000 1.900 255 PASS . . . . . . . . . . . . . . . . 0.53216374 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 342.0 . . . . . . . . . . 0.7801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . 0.52 0.34 182 ENSG00000155428 . . . . dist\x3d6575\x3bdist\x3d8288 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71235158 rs71235158 rs71235158 1 1538 10 1/0 0,206,216 +. 7 72497356 C T - SPDYE11 51507 Speedy/RINGO cell cycle regulator family member E11 NM_001351349.1 -1 1048 798 NP_001338278.1 substitution missense exon GRCh37 72497356 72497356 Chr7(GRCh37):g.72497356C>T 158 158 NM_001351349.1:c.158G>A p.Arg53His p.Arg53His 2 28 3' 86.4067 IV.41 0.773455 2.16832 86.4067 IV.41 0.773455 1.59738 0 transition G A G>A 0.457 0.448 R Arg CGT 0.082 H His CAT 0.413 53 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 224 PASS . . . . . . . . . . . . SPDYE8P:uc011keo.2:exon3:c.G158A:p.R53H . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000198305 SPDYE8P SPDYE8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 72497356 C T - SPDYE17 51513 Speedy/RINGO cell cycle regulator family member E17 NM_001351351.1 -1 1483 798 NP_001338280.1 substitution missense exon GRCh37 72497356 72497356 Chr7(GRCh37):g.72497356C>T 158 158 NM_001351351.1:c.158G>A p.Arg53His p.Arg53His 2 28 3' 86.4067 IV.41 0.773455 2.16832 86.4067 IV.41 0.773455 1.59738 0 transition G A G>A 0.457 0.448 R Arg CGT 0.082 H His CAT 0.413 53 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 224 PASS . . . . . . . . . . . . SPDYE8P:uc011keo.2:exon3:c.G158A:p.R53H . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000198305 SPDYE8P SPDYE8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 72497356 C T - SPDYE8P 33771 Speedy/RINGO cell cycle regulator family member E8, pseudogene NR_003664.2 -1 2884 0 substitution exon GRCh37 72497356 72497356 Chr7(GRCh37):g.72497356C>T 729 729 NR_003664.2:n.729G>A 3 28 3' 86.4067 IV.41 0.773455 2.16832 86.4067 IV.41 0.773455 1.59738 0 transition G A G>A 0.457 0.448 224 PASS . . . . . . . . . . . . SPDYE8P:uc011keo.2:exon3:c.G158A:p.R53H . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000198305 SPDYE8P SPDYE8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr7:72525418 C/T) 7 72525418 C T Not on a known gene +rs1637126 7 72643877 C G - NCF1B 32522 Neutrophil cytosolic factor 1B pseudogene NR_003186.1 1 1516 0 substitution exon GRCh37 72643877 72643877 Chr7(GRCh37):g.72643877C>G 491 491 NR_003186.1:n.491C>G 4 277 3' 80.4789 X.73 0.821695 XII.19 80.4789 X.73 0.821695 XII.19 0 rs1637126 no no 0 C 0.000000 0 0.001109 0.001267 0.000041 0.000000 0.000524 0.005440 0.000426 0.000221 0.001741 0.005440 188 18 1 0 6 123 28 4 8 169556 14208 24620 8354 11444 22610 65656 18070 4594 0.000047 0.000000 0.000000 0.000000 0.000000 0.000354 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 180 18 1 0 6 115 28 4 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.286 222 PASS . . . . . . . . . . . . NCF1B:uc011ker.1:exon6:c.C656G:p.S219C . . . 0.21719457 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 221.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S164C|NCF1B|Non-coding_transcript|NON_CODING|NR_003186|NR_003186.ex.4) . . . . . . . -0.3183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000182487 NCF1B NCF1B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0009 4.189e-05 0 0 0 0 0.0008 0.0054 0.0022 0.0023 0 0 0.0046 0.0012 0.0022 0.0058 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs1637126 rs1637126 rs1637126 rs1637126 1 1538 10 1/0 0,202,255 +. 7 72712272 G A - POM121B 34004 POM121 transmembrane nucleoporin B (pseudogene) ENST00000411631.2 1 3067 0 substitution exon GRCh37 72712272 72712272 Chr7(GRCh37):g.72712272G>A 1346 1346 ENST00000411631.2:n.1346G>A 1 -166 5' 91.9265 X.44 0.996577 VIII.72 91.9265 X.44 0.996577 VIII.72 0 0.000299 0.000476 0.000000 0.000000 0.001266 0.000000 0.000206 0.000000 0.000000 0.001266 9 4 0 0 2 0 3 0 0 30078 8396 824 282 1580 0 14568 3480 948 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 4 0 0 2 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition G A G>A 0.039 -0.360 181 PASS . . . . . . . . . . . . . . . . 0.11440678 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 236.0 . . . . . . . . . . -0.2756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . 0.4 0.27 182 ENSG00000205578 FKBP6 . . . dist\x3d62293\x3bdist\x3d4241 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0.0013 0 0.0002 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs396094 rs396094 rs396094 rs200951785 1 1538 10 1/0 0,190,255 +rs782323687 7 73922513 G A - GTF2IRD1 4661 GTF2I repeat domain containing 1 NM_001199207.1 1 3495 2931 NP_001186136.1 substitution missense exon GRCh37 73922513 73922513 Chr7(GRCh37):g.73922513G>A 103 103 NM_001199207.1:c.103G>A p.Val35Met p.Val35Met 2 604318 -21 5' 86.8199 10.1256 0.987028 15.4693 86.8199 10.1256 0.987028 15.347 0 Transcription factor II-I rs782323687 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000036 4 0 0 0 0 0 4 0 0 244770 15294 33556 9816 17238 30774 111498 21130 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 59 Exomes COSM5518761 Biliary tract 0.002717 368 transition G A G>A 1.000 3.111 V Val GTG 0.468 M Met ATG 1.000 35 11 8 Chicken 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.52409637 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.675 . @ . . . . . 1 0.270 . . 166.0 . . . . . . . . . . 0.1074 0.156 0.107 c . . . . . 2.368e-05 . . . . . . . . . . . 0 2.838e-05 0 0.0001 0 3.691e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.390 . . exonic exonic exonic . . 0.349 @ . . . . . . ENSG00000006704 GTF2IRD1 GTF2IRD1 . . . 0.968 0.290 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . T 0.246 0.009 . . 37 . 0.384 . . 0.085 . . . 0.326 0.548 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.082 . . 0 0 0 0 0 0 . 0.585 . . 0.497 . . . . . . 0 0.114 . . . . . 0.575 . 0.639 . HET 0.29 . . . . . . . . . . . . . XII.73 . . 4.V III.13 . 0.470000 . . . . . . 0.791 . . III.13 0 1.634e-05 0 0 0 0 3.588e-05 0 0 . . . . . . . . . . 0.924 . 1.021 1.021000 . . 0.470000 . . 1.0E-255 1.000 0.715 . 0.697 0.998 . 0.735 . 0.551 1.021 0.917 . . . . . 1 1538 10 1/0 0,238,250 +rs202074389 7 74217714 G T - GTF2IRD2 30775 GTF2I repeat domain containing 2 NM_173537.3 -1 3583 2850 NP_775808.3 Q86UP8 substitution missense exon GRCh37 74217714 74217714 Chr7(GRCh37):g.74217714G>T 1142 1142 NM_173537.3:c.1142C>A p.Ala381Asp p.Ala381Asp 14 608899 -76 5' 100 X.83 0.998252 6.94396 100 X.83 0.998252 6.87131 0 GTF2I-like repeat rs202074389 no no 0 G 0.000000 0 0.000317 0.000228 0.000000 0.003731 0.000000 0.000000 0.000344 0.000432 0.001205 0.003731 8 1 0 2 0 0 3 1 1 25236 4392 4238 536 1520 2686 8718 2316 830 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 2 0 0 3 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 1.000 2.869 A Ala GCC 0.403 D Asp GAC 0.539 381 12 9 Cow -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Deleterious 0 IV.32 244 PASS . . . . . . . . . . . . . GTF2IRD2:NM_173537:exon14:c.C1142A:p.A381D . . 0.2843602 . . @ 120 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.643 . . 422.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A381D|GTF2IRD2|mRNA|CODING|NM_173537|NM_173537.ex.14) . . . . . . . 0.2526 0.199 0.253 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.419 @ . . . 0.61 0.6 182 ENSG00000196275 GTF2IRD2 GTF2IRD2 . . . 0.002 0.086 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.374 0.016 . . 37 . 0.457 . . 0.529 . . . 0.212 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 . . . . . . 0.605 . 0.671 . HET 0.04 rs202074389 . . . . . . . . . . . . 13.4628 . . III.74 III.74 . 0.010000 . . . . . . 0.411 . . III.74 0.0003 0.0003 0 0.004 0 0 0.0003 0.0017 0 0 0.0004 0 0 0 0.0005 0.0007 0 . . 0.428 . 2.117 2.117000 . . 0.010000 . . 1.0000000000000001E-244 1.000 0.715 . 0.392 0.997 . 0.726 . 0.538 2.117 0.917 . rs2539034 rs2539034 rs2539034 rs202074389 1 1538 10 1/0 0,181,238 +. 7 74267980 G A - GTF2IRD2 30775 GTF2I repeat domain containing 2 NM_173537.3 -1 3583 2850 NP_775808.3 Q86UP8 substitution upstream GRCh37 74267980 74267980 Chr7(GRCh37):g.74267980G>A -323 -323 NM_173537.3:c.-323C>T p.? p.? 1 608899 -318 5' 84.8523 9.73418 0.994241 14.6429 84.8523 9.73418 0.994241 14.6429 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 0.205 223 PASS . . . . . . . . . . . . . . . . 0.22167487 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 203.0 . . . . . . . . . . 1.0779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream upstream . . . @ . . . . . . ENSG00000160828 GTF2IRD2 GTF2IRD2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs62476562 7 74300569 G A - STAG3L2 33886 Stromal antigen 3-like 2 (pseudogene) NR_040584.2 -1 1884 0 substitution exon GRCh37 74300569 74300569 Chr7(GRCh37):g.74300569G>A 496 496 NR_040584.2:n.496C>T 4 -30 5' 90.0021 8.68007 0.992362 XI.61 90.0021 8.68007 0.992362 X.57 0 rs62476562 yes no Frequency/1000G 2 G 0.000000 0 0.000451 0.000666 0.000289 0.000000 0.000000 0.002664 0.000242 0.000126 0.000000 0.002664 31 6 3 0 0 15 6 1 0 68710 9006 10372 1178 7870 5630 24768 7950 1936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 6 3 0 0 15 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 1.013 255 PASS 0.09 0.05 0.03 0.04 0.06 . . . . . . . . . . . 0.3560606 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 132.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R166C|STAG3L2|Non-coding_transcript|NON_CODING|NR_040584|NR_040584.ex.4) . . . . . . . -1.0654 . . . . . . . . 1.522e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.32 182 ENSG00000160828 STAG3L2 STAG3L2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 rs62476562 . . . . . . ID\x3dCOSM248727\x3bOCCURENCE\x3d1(pancreas) 0.05402930402930403 0.08536585365853659 0.027624309392265192 0.04020979020979021 0.05672823218997362 II.76 . . . . . 0.010000 P0CL84 . . . . . . . . . 0.0002 0.0004 0.0003 0 0 0 0.0001 0 0.0027 0.0011 0.0006 0 0 0 0.0004 0.0005 0 . . . . -0.000 -0.000000 . . 0.010000 . . 1.0E-255 . . . . . . . . . -0.000 . 0.09 rs62476562 rs62476562 rs62476562 rs201662874 1 1538 10 1/0 0,238,255 +. 7 74508239 C T - GTF2IRD2B 33125 GTF2I repeat domain containing 2B NM_001003795.2 1 3585 2850 NP_001003795.1 Q6EKJ0 substitution upstream GRCh37 74508239 74508239 Chr7(GRCh37):g.74508239C>T -323 -323 NM_001003795.2:c.-323C>T p.? p.? 1 608900 -318 5' 84.8523 9.73418 0.994241 14.6429 84.8523 9.73418 0.994241 14.6429 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 1.255 239 PASS . . . . . . . . . . . . . . . . 0.2972973 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 185.0 . . . . . . . . . . 0.1449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000174428 GTF2IRD2B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +rs370642824 7 74558397 C A - GTF2IRD2B 33125 GTF2I repeat domain containing 2B NM_001003795.2 1 3585 2850 NP_001003795.1 Q6EKJ0 substitution missense exon GRCh37 74558397 74558397 Chr7(GRCh37):g.74558397C>A 1142 1142 NM_001003795.2:c.1142C>A p.Ala381Asp p.Ala381Asp 14 608900 -76 5' 100 X.83 0.998252 6.94396 100 X.83 0.998252 6.87131 0 GTF2I-like repeat rs370642824 no no 0 C 0.000000 0 COSM5428616 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 1.000 2.788 A Ala GCC 0.403 D Asp GAC 0.539 381 10 5 Mouse -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 237 PASS . . . . . . . . . . . . . . . . 0.26174498 . . @ 117 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.496 . @ . . . . . 1 0.726 . . 447.0 . . . . . . . . . . 0.1214 0.050 0.121 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.344 @ . . . 0.42 0.58 182 ENSG00000174428 GTF2IRD2B . . . . 0.001 0.077 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.291 0.011 . . 37 . 0.445 . . 0.478 . . . 0.212 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.764 . . 0.774 . . . . . . 0 . . . . . . 0.588 . 0.680 . HET 0.02 rs370642824 . . . . . . . . . . . . 13.1605 . . 3.VIII 3.VIII . 0.100000 Q6EKJ0 . . . . . 0.447 . . 3.VIII . . . . . . . . . . . . . . . . . . . 0.428 . 1.691 1.691000 . . 0.100000 . . 1.0E-237 1.000 0.715 . 0.250 0.995 . 0.623 . 0.298 1.691 0.871 . rs2539034 rs2539034 rs2539034 rs2539034 1 1538 10 1/0 0,176,243 +rs587684960 7 74563752 C T - GTF2IRD2B 33125 GTF2I repeat domain containing 2B NM_001003795.2 1 3585 2850 NP_001003795.1 Q6EKJ0 substitution missense exon GRCh37 74563752 74563752 Chr7(GRCh37):g.74563752C>T 1499 1499 NM_001003795.2:c.1499C>T p.Ser500Leu p.Ser500Leu 16 608900 253 3' 68.4963 5.75947 0.02174 II.83 68.4963 5.75947 0.02174 II.83 0 rs587684960 yes no Frequency/1000G 2 C 0.000599 T 3 0.000599 0.000000 0.001000 0.000000 0.000000 0.002900 0.000071 0.000000 0.000202 0.000000 0.000000 0.000118 0.000043 0.000000 0.000000 0.000202 5 0 3 0 0 1 1 0 0 70098 5570 14832 2410 8196 8466 23184 5512 1928 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 3 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes COSM5424527|COSM5424527 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000850 747|3530 transition C T C>T 0.008 1.174 S Ser TCG 0.056 L Leu TTG 0.127 500 10 5 Cat -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 229.59 30.92 Tolerated 0.14 III.77 good 3.356E-1 0.09105 188 PASS . . . . . . 0.0006 0.0029 . . 0.001 . . . . . 0.13025211 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.220 . @ . . . . . 1 0.159 . . 238.0 . . . . . . . . . . -1.0662 -1.101 -1.066 c . . . . . 2.971e-05 . . . 0 0.0006 0.0111 0 0 0 0 0 0 0.0017 0.0132 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.221 0.0006 . . . 0.52 0.49 182 ENSG00000174428 GTF2IRD2B . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.043 . . 0.420 . . . 0.430 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.270 . . 0.176 . . . . . . 0 . . . . . . 0.214 . 0.211 . LowAF 0.66 rs587684960 . . . . . . . . . . . . VI.51 . . I.53 I.53 . 0.710000 Q6EKJ0 . . . . . 0.037 . . . 0 7.133e-05 0.0002 0 0 0 4.313e-05 0 0.0001 . . . . . . . . . . 0.558 . 1.164 1.164000 . . 0.710000 . . 1.0E-188 0.061 0.216 . 0.237 0.142 . 0.352 . 0.277 1.164 0.356 . rs2529320 rs2529320 . . 1 1538 10 1/0 0,191,255 +. 7 74578192 T C - NCF1C 32523 Neutrophil cytosolic factor 1C pseudogene NR_003187.3 -1 1442 0 substitution exon GRCh37 74578192 74578192 Chr7(GRCh37):g.74578192T>C 674 674 NR_003187.3:n.674A>G 7 47 3' 77.1359 7.05517 0.326369 7.70508 77.1359 7.05517 0.326369 8.16932 0 0.003197 0.007506 0.003205 0.000000 0.000000 0.000000 0.000608 0.000000 0.000000 0.007506 29 26 1 0 0 0 2 0 0 9072 3464 312 68 474 0 3290 1210 254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 26 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition A G A>G 0.937 -1.167 185 PASS . . . . . . . . . . . . NCF1C:uc003ubv.3:exon7:c.A549G:p.A183A . . . 0.125 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H225R|NCF1C|Non-coding_transcript|NON_CODING|NR_003187|NR_003187.ex.7) . . . . . . . 0.0556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.54 0.39 182 ENSG00000165178 NCF1C NCF1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0075 0.0032 0.0032 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs1637127 rs1637127 rs1637127 rs1637127 1 1538 10 1/0 0,255,255 +. 7 74618293 C T - GTF2IP1 4660 General transcription factor IIi, pseudogene 1 NR_002206.3 -1 3631 0 substitution exon GRCh37 74618293 74618293 Chr7(GRCh37):g.74618293C>T 1187 1187 NR_002206.3:n.1187G>A 9 -36 5' 87.3609 X.15 0.995097 1.98173 87.3609 X.15 0.995097 1.60041 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 262 22 0 2 0 0 214 16 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 158 Genomes transition G A G>A 1.000 2.869 233 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 19.0 . . . . . . . . . . I.76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000232561 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.II . . . . . . . . . 0 0 . 0 . 0 0 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr7:74911469 G/A) 7 74911469 G A Not on a known gene +. (chr7:74939489 G/A) 7 74939489 G A Not on a known gene +. (chr7:74967512 G/A) 7 74967512 G A Not on a known gene +. 7 74994595 CCTGGAGCT C - STAG3L1 33852 Stromal antigen 3-like 1 NM_018991.2 1 1826 618 NP_061864.2 deletion frameshift exon GRCh37 74994598 74994605 Chr7(GRCh37):g.74994598_74994605del 243 250 NM_018991.2:c.243_250del p.Glu82Hisfs*32 p.Glu82Hisfs*32 5 -18 5' 90.0021 8.68007 0.992362 XI.61 90.0021 8.68007 0.992362 11.056 0 Armadillo-type fold 0.000907 0.001532 0.000000 0.000000 0.000000 0.000000 0.000700 0.001238 0.000000 0.001532 22 10 0 0 0 0 8 4 0 24256 6528 730 198 1362 0 11434 3230 774 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 10 0 0 0 0 8 4 0 0 0 0 0 0 0 0 0 0 RF 26 Genomes GGAGCTCT 255 Pass . . . . . . . . . . . . STAG3L1:uc022agf.1:exon3:c.241_248del:p.L81fs . . . 0.2013889 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 144 . . FRAME_SHIFT(HIGH||||STAG3L1|Non-coding_transcript|NON_CODING|NR_040583|NR_040583.ex.7) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000205583 STAG3L1 STAG3L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0009 0 0 0 0.0012 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72235645 . . 1 1538 10 1.I 0,8,70 +rs236600 7 74994854 G A - STAG3L1 33852 Stromal antigen 3-like 1 NM_018991.2 1 1826 618 NP_061864.2 substitution missense exon GRCh37 74994854 74994854 Chr7(GRCh37):g.74994854G>A 289 289 NM_018991.2:c.289G>A p.Val97Met p.Val97Met 6 22 3' 92.6386 12.1662 0.96217 11.734 92.6386 12.1662 0.96217 XI.29 0 Armadillo-type fold rs236600 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.929 -0.117 V Val GTG 0.468 M Met ATG 1.000 97 11 1 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 30.92 0.00 Tolerated 0.6 II.91 good 2.031E-1 0.001465 195 PASS . . . . . . . . . . . . STAG3L1:uc022agf.1:exon4:c.G289A:p.V97M . . . 0.14666666 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S265|STAG3L1|Non-coding_transcript|NON_CODING|NR_040583|NR_040583.ex.8) . . . . . . . -1.5432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.56 0.3 182 ENSG00000205583 STAG3L1 STAG3L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.29 . . . . . . . . . . . . . I.39 . . 0.717 -1.43 . 0.250000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.764 -1.764000 . . 0.250000 . . 9.999999999999999E-196 . . . . . . . . . -1.764 . . rs236600 rs236600 rs236600 rs236600 1 1538 10 1.I 0,0,0 +. 7 74994907 C A - STAG3L1 33852 Stromal antigen 3-like 1 NM_018991.2 1 1826 618 NP_061864.2 substitution synonymous exon GRCh37 74994907 74994907 Chr7(GRCh37):g.74994907C>A 342 342 NM_018991.2:c.342C>A p.Ile114= p.Ile114Ile 6 -6 5' 79.3736 6.43374 0.96248 3.86194 79.3736 6.43374 0.88386 3.82216 -0.0272283 Armadillo-type fold 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 718 22 94 10 78 0 298 194 22 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 1.000 0.044 I Ile ATC 0.481 I Ile ATA 0.163 114 192 PASS . . . . . . . . . . . . STAG3L1:uc022agf.1:exon4:c.C342A:p.I114I . . . 0.140625 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S283Y|STAG3L1|Non-coding_transcript|NON_CODING|NR_040583|NR_040583.ex.8) . . . . . . . -0.1371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.55 0.28 182 ENSG00000205583 STAG3L1 STAG3L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs3735506 rs3735506 rs3735506 rs3735506 1 1538 10 1/0 0,249,255 +. 7 75033027 A G - TRIM73 18162 Tripartite motif containing 73 NM_198924.3 1 1358 753 NP_944606.2 Q86UV7 substitution splice site GRCh37 75033027 75033027 Chr7(GRCh37):g.75033027A>G 495+4 495+4 NM_198924.3:c.495+4A>G p.? p.? 3 3 612549 4 5' 70.7608 7.81871 0.894479 XI.57 60.6802 0.437433 0.018141 7.84088 -0.688744 transition A G A>G 1.000 2.223 255 PASS . . . . . . . . . . . . . . . . 0.45183486 . . @ 197 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 436.0 . . INTRON(MODIFIER||||TRIM73|mRNA|CODING|NM_198924|) . . . . . . . 1.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.38 182 ENSG00000178809 TRIM73 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.878 . . . . . . II.64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71235158 rs71235158 rs71235158 1 1538 10 1/0 0,195,224 +rs2533484 7 75047993 G A - NSUN5P1 19146 NOP2/Sun domain family, member 5 pseudogene 1 NR_104013.1 1 1881 0 substitution downstream GRCh37 75047993 75047993 Chr7(GRCh37):g.75047993G>A *1922 *1922 NR_104013.1:n.*1922G>A p.? p.? 8 2440 3' 97.3709 X.37 0.913489 X.24 97.3709 X.37 0.913489 X.24 0 rs2533484 no no 0 0.000000 0 0.000066 0.000115 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000115 2 1 0 0 0 0 1 0 0 30494 8676 826 282 1606 0 14658 3484 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 34 Genomes transition G A G>A 0.000 0.528 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . . . . . . . . . -0.0311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.78 182 ENSG00000135213 POM121C POM121C . uc003udk.4:c.*86C>T NM_001099415:c.*86C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.96 . . . . . . . . . 0.0001 6.559e-05 0 0 0 0 6.822e-05 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2533484 rs2533484 rs2533484 rs2533484 1 1538 10 1/0 0,211,255 +rs2533484 7 75047993 G A - POM121C 34005 POM121 transmembrane nucleoporin C NM_001099415.2 -1 5865 2964 NP_001092885.2 substitution 3'UTR GRCh37 75047993 75047993 Chr7(GRCh37):g.75047993G>A *86 *86 NM_001099415.2:c.*86C>T p.? p.? 15 615754 184 3' 89.9675 8.23249 0.885314 5.10775 89.9675 8.23249 0.885314 5.10775 0 rs2533484 no no 0 0.000000 0 0.000066 0.000115 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000115 2 1 0 0 0 0 1 0 0 30494 8676 826 282 1606 0 14658 3484 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 34 Genomes transition C T C>T 0.000 0.528 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . . . . . . . . . -0.0311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.78 182 ENSG00000135213 POM121C POM121C . uc003udk.4:c.*86C>T NM_001099415:c.*86C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.96 . . . . . . . . . 0.0001 6.559e-05 0 0 0 0 6.822e-05 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2533484 rs2533484 rs2533484 rs2533484 1 1538 10 1/0 0,211,255 +. 7 75126114 A T - SPDYE5 35464 Speedy/RINGO cell cycle regulator family member E5 NM_001306141.1 1 3147 1209 NP_001293070.1 substitution missense exon GRCh37 75126114 75126114 Chr7(GRCh37):g.75126114A>T 497 497 NM_001306141.1:c.497A>T p.Glu166Val p.Glu166Val 3 -114 5' 71.9513 5.0016 0.427041 4.48279 71.9513 5.0016 0.427041 4.48279 0 transversion A T A>T 0.012 0.448 E Glu GAG 0.583 V Val GTG 0.468 166 12 5 Dog -3 -2 -4 0.92 0 12.III 5.IX 83 84 121 C0 353.86 0.00 Deleterious 0.01 III.84 200 PASS . . . . . . . . . . . . SPDYE5:uc011kfy.2:exon2:c.A377T:p.E126V SPDYE5:NM_001306141:exon3:c.A497T:p.E166V . . 0.16216215 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.083 . @ . . . . . 1 0.021 . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gTg|E166V|SPDYE5|mRNA|CODING|NM_001306141|NM_001306141.ex.3) . . . . . . . -0.2230 -0.201 -0.223 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.158 @ . . . . . . ENSG00000170092 SPDYE5 SPDYE5 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.380 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.637 . . 0.722 . . . . . . 0 . . . . . . . . 0.204 . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.032 . . . . . . . . . . . . . . . . . . . . . . 0.047 . . . . . . . . 1.0E-200 0.000 0.063 . 0.114 0.078 . 0.076 . 0.282 . 0.391 . . . . . 1 1538 10 1/0 0,255,255 +. 7 75508594 CCGGGATCG C - RHBDD2 23082 Rhomboid domain containing 2 NM_001040456.2 1 1763 1095 NP_001035546.1 Q6NTF9 deletion intron GRCh37 75508599 75508606 Chr7(GRCh37):g.75508599_75508606del 178+21 178+28 NM_001040456.2:c.178+21_178+28del p.? p.? 1 1 615203 21 5' 89.5524 9.59704 0.994201 14.1987 89.5524 9.59704 0.994201 14.6786 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000348 0.000027 2 0 0 0 0 0 1 0 1 99112 10930 13416 4500 4818 14352 37440 10786 2870 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes ATCGCGGG 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000005486 RHBDD2 RHBDD2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.467e-05 0 0 0 0 4.454e-05 0 0 0 3.231e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,48 +rs4732519 (chr7:75621827 A/G) 7 75621827 A G Transcript NM_001317803.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TMEM120A +rs181480573 (chr7:75915187 C/T) 7 75915187 C T Not on a known gene +. 7 76023131 A AG - SSC4D 14461 Scavenger receptor cysteine rich family, 4 domains NM_080744.1 -1 2806 1728 NP_542782.1 Q8WTU2 duplication intron GRCh37 76023131 76023132 Chr7(GRCh37):g.76023132dup 1021+15 1021+15 NM_080744.1:c.1021+15dup p.? p.? 8 8 607639 15 5' 87.5573 9.72159 0.9918 14.805 87.5573 9.72159 0.9918 14.6743 0 rs35508921 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999955 1.000000 1.000000 1.000000 0.999925 0.999958 0.999930 0.999949 1.000000 1.000000 200123 17718 26708 8834 13401 23621 85302 19569 4970 200132 17718 26708 8834 13402 23622 85308 19570 4970 0.999910 1.000000 1.000000 1.000000 0.999851 0.999915 0.999859 0.999898 1.000000 100057 8859 13354 4417 6700 11810 42648 9784 2485 7 0 0 0 1 0 5 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 16 5 21 8196 4225 12421 0.00194837 0.00118203 0.00168783 0.998052 0.998818 0.998312 17 C 255 Pass 1. 0.99 0.99 0.98 0.99 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . . 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 65 . . . 1. 1. 1. 1. 1. 1. . . . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 1 1 0.9999 1 0.9999 1 0.9997 1 1.0000 1 0.9999 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000146700 SRCRB4D SSC4D . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs35508921 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.999679 . . . . . 1 1.0000 1 1 0.9999 0.9999 0.9999 1 1.0000 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs35508921 rs35508921 rs35508921 1 1538 255 1.I 0,0,255 +rs1638102 7 76126857 T C - DTX2 15973 Deltex homolog 2 (Drosophila) NM_020892.2 1 2819 1869 NP_065943.2 Q86UW9 substitution intron GRCh37 76126857 76126857 Chr7(GRCh37):g.76126857T>C 1150+63 1150+63 NM_020892.2:c.1150+63T>C p.? p.? 7 7 613141 63 5' 77.2199 6.43699 0.848188 2.57676 77.2199 6.43699 0.848188 2.40324 0 rs1638102 yes no Frequency/1000G 2 0.000000 0 0.238019 0.268500 0.264800 0.212300 0.207800 0.223300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14816 2738 422 132 764 0 7810 2442 508 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition T C T>C 0.110 -0.360 250 PASS . . . . . 0.27 0.24 0.22 0.21 0.21 0.26 . . . . . 0.30952382 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . 0.8023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2380 . . . 0.48 0.31 182 ENSG00000091073 DTX2 DTX2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1638102 0.098 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.098 rs1638102 rs1638102 rs1638102 rs143795903 1 1538 10 1/0 0,0,0 +rs371801097 7 76129519 A G - DTX2 15973 Deltex homolog 2 (Drosophila) NM_020892.2 1 2819 1869 NP_065943.2 Q86UW9 substitution intron GRCh37 76129519 76129519 Chr7(GRCh37):g.76129519A>G 1151-239 1151-239 NM_020892.2:c.1151-239A>G p.? p.? 8 7 613141 -239 3' 87.9159 XI.03 0.978793 XII.55 87.9159 XI.03 0.978793 XII.55 0 rs371801097 yes no Frequency/1000G 2 0.000000 0 0.005192 0.014400 0.003100 0.004000 0.000000 0.000000 0.006188 0.014700 0.003787 0.000000 0.007556 0.004171 0.005864 0.005485 0.004565 0.014700 607 160 65 0 74 49 215 31 13 98088 10884 17166 3332 9794 11748 36664 5652 2848 0.000163 0.000551 0.000000 0.000000 0.000000 0.000170 0.000218 0.000000 0.000000 8 3 0 0 0 1 4 0 0 591 154 65 0 74 47 207 31 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -0.763 229 PASS . . . . . 0.014 0.0052 . 0.004 . 0.0031 . DTX2:uc003ufm.4:exon1:c.A51G:p.P17P . . . 0.24285714 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.6940 . . . . . . . . 2.635e-03 . . . 0.1579 0.0195 0 0 . 0.0106 0 0.0109 0.1364 0.0162 0 0 . 0.0152 0 0.0109 . synonymous_SNV . . . . intronic exonic intronic . . . 0.0052 . . . 0.52 0.3 182 ENSG00000091073 DTX2 DTX2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371801097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0166 0.0055 0.0038 0 0.0076 0.0041 0.0052 0.0049 0.0042 0.0129 0.0088 0.0034 0 0.0075 0.0070 0.0078 0.0034 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs2302543 rs2302543 rs2302543 rs2302543 1 1538 10 1/0 0,254,255 +. 7 76140912 CCA C - UPK3B 21444 Uroplakin 3B NM_030570.3 1 1618 963 NP_085047.1 Q9BT76 deletion intron GRCh37 76140914 76140915 Chr7(GRCh37):g.76140914_76140915del 401-60 401-59 NM_030570.3:c.401-60_401-59del p.? p.? 2 1 611887 -59 3' 83.3883 XI.57 0.879702 13.016 83.3883 XI.57 0.879702 13.8991 0 76140914 -70.4118 rs141092673 no no 0 0.000000 0 0.002437 0.002452 0.001377 0.000000 0.000626 0.000000 0.002911 0.002343 0.001263 0.002911 59 16 1 0 1 0 33 7 1 24206 6524 726 240 1598 0 11338 2988 792 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 16 1 0 1 0 33 7 1 0 0 0 0 0 0 0 0 0 RF 40 Genomes AC 255 Pass . . . . . . . . . . . . . . . . 0.37209302 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000243566 UPK3B UPK3B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141092673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0024 0.0014 0 0.0006 0.0023 0.0029 0.0013 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72002544 rs72002544 rs141092673 1 1538 10 1.I 0,12,43 +. 7 76180721 A G - UPK3B 21444 Uroplakin 3B NM_030570.3 1 1618 963 NP_085047.1 Q9BT76 substitution intron GRCh37 76180721 76180721 Chr7(GRCh37):g.76180721A>G *200+35953 *200+35953 NM_030570.3:c.*200+35953A>G p.? p.? 4 4 611887 35953 5' 69.9548 0 0 0 69.9548 0 0 0 0 transition A G A>G 0.012 0.125 223 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||LOC100133091|Non-coding_transcript|NON_CODING|NR_029411|) . . . . . . . -0.3409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.35 0.16 182 ENSG00000205485 . LOC100133091 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . rs112324306 rs112324306 1 1538 10 1/0 0,251,255 +. (chr7:76658741 C/T) 7 76658741 C T Not on a known gene +rs35545354 7 79828617 T C - GNAI1 4384 Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 NM_002069.5 1 3318 1065 NP_002060.4 P63096 substitution missense exon GRCh37 79828617 79828617 Chr7(GRCh37):g.79828617T>C 380 380 NM_002069.5:c.380T>C p.Ile127Thr p.Ile127Thr 4 139310 77 3' 84.9781 7.36744 0.222618 2.17065 84.9781 7.36744 0.222618 2.45183 0 Guanine nucleotide binding protein (G-protein), alpha subunit rs35545354 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.000800 0.000000 0.000000 0.007000 0.001400 0.002439 0.000666 0.000379 0.001380 0.000000 0.000390 0.004571 0.001357 0.001085 0.004571 675 16 13 14 0 12 578 35 7 276734 24020 34312 10148 18820 30746 126448 25786 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 675 16 13 14 0 12 578 35 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8552 4400 12952 48 6 54 0.0055814 0.00136178 0.00415193 0.0055814 0.00136178 0.00415193 107 transition T C T>C 1.000 5.290 I Ile ATA 0.163 T Thr ACA 0.280 127 12 9 Zebrafish -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 234.86 46.93 Deleterious 0.02 IV.32 bad 6.751E-4 0.0004188 255 PASS . 0.0032 0.0028 . 0.01 0.0008 0.0018 0.0014 . 0.007 . . . . . . 0.50769234 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.602 . @ . . . . . 1 0.940 . . 65.0 . . . 0.0014 0.0042 0.0056 0.0014 0.0042 0.0056 . 0.4574 0.562 0.457 c . . . . . 2.463e-03 . . . 0.0008 0.0020 0.0002 0 0.0003 0.0039 0 0.0003 0.0009 0.0023 0.0002 0 0.0009 0.0041 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.911 . . exonic exonic exonic . . 0.987 0.0018 . . . 0.55 0.49 182 ENSG00000127955 GNAI1 GNAI1 . . . 1.000 0.747 . 218 0.00335508 64976 210 0.00350082 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.885 0.237 . . 37 . 0.914 . . 0.898 . . . 0.821 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.642 . . 0 0 0 0 0 0 . 0.288 . . 0.455 . . . . . . 0 0.784 . . . . . 0.848 . 0.864 . HET 0 rs35545354 . . . . . . . 0.003205128205128205 0.0 0.0027624309392265192 0.0 0.0079155672823219 16.6277 0.001873 . 6.VII 6.VII . . P63096 . . Name\x3dnsv888512 0.004152 . 0.816 . . 6.VII 0.0007 0.0024 0.0004 0.0014 0 0.0014 0.0045 0.0013 0.0004 0.0007 0.0028 0 0 0 0.0011 0.0052 0 . . 0.609 . 2.330 2.330000 . . . . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.886 . 0.807 2.330 0.991 0.01 rs35545354 rs35545354 rs35545354 rs35545354 1 1538 10 1/0 0,255,255 +rs148910227 7 80302116 C T - CD36 1663 CD36 molecule (thrombospondin receptor) NM_000072.3 1 2106 1419 NP_000063.2 P16671 substitution missense exon GRCh37 80302116 80302116 Chr7(GRCh37):g.80302116C>T 1156 1156 NM_000072.3:c.1156C>T p.Arg386Trp p.Arg386Trp 12 173510 31 3' 86.5716 9.26841 0.982281 VI.22 86.5716 9.26841 0.982281 6.74604 0 Cryptic Acceptor Strongly Activated 80302125 1.054 0.044745 67.7265 2.15462 0.098085 70.4384 CD36 antigen rs148910227 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.002300 0.000000 0.003000 0.000000 0.001400 0.000548 0.001170 0.000409 0.000000 0.002886 0.001272 0.000111 0.000000 0.000312 0.002886 151 28 14 0 54 39 14 0 2 275560 23928 34220 10122 18710 30658 125828 25690 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 28 14 0 54 39 14 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4396 12991 1 4 5 0.000116333 0.000909091 0.000384734 0.000116333 0.000909091 0.000384734 63 CM068761 CD36 deficiency 16493488 DM transition C T C>T 1.000 1.174 R Arg CGG 0.207 W Trp TGG 1.000 386 13 11 Fruitfly -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 252.53 47.30 Deleterious 0.02 II.96 good 4.551E-2 0.1216 255 PASS . 0.0005 . 0.0017 . 0.0023 0.0014 0.0014 0.003 . . . . . . . 0.4848485 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.914 . . 33.0 . . . 0.0009 0.0004 0.0001 0.0009 0.0004 0.0001 . 0.3164 0.205 0.316 c . . . . . 4.501e-04 . . . 0.0010 0.0005 9.337e-05 0.0017 0 0.0001 0 0.0013 0.0012 0.0005 9.626e-05 0.0018 0 6.163e-05 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.838 . . exonic exonic exonic . . 0.356 0.0014 . . . 0.25 0.59 182 ENSG00000135218 CD36 CD36 . . . 0.667 0.223 . 8 0.000123122 64976 2 3.33411e-05 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.947 0.469 . . 37 . 0.921 . . 0.929 . . . 0.943 0.810 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.912 . . . . . 0.597 . 0.895 . HET 0 rs148910227 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0017482517482517483 0.0 13.3225 8.03E-4 . 5.VI III.19 . . P16671 . . . 0.000385 . 0.407 . . III.19 0.0013 0.0005 0.0004 0 0.0027 0 0.0001 0.0004 0.0013 0.0010 0.0006 0 0 0.0050 0 6.692e-05 0 . . 0.246 . 0.581 0.581000 . . . . . 1.0E-255 1.000 0.715 . 0.486 0.999 . 0.264 . 0.125 0.581 0.871 0.0017 . . rs148910227 rs148910227 1 1538 10 1/0 0,255,255 +rs78174406 7 81643813 T C - CACNA2D1 1399 Calcium voltage-gated channel auxiliary subunit alpha2delta 1 NM_000722.3 -1 7571 3276 NP_000713.2 substitution intron GRCh37 81643813 81643813 Chr7(GRCh37):g.81643813T>C 1144-18 1144-18 NM_000722.3:c.1144-18A>G p.? p.? 13 12 114204 -18 3' 86.8736 8.26767 0.799672 V.45 86.8736 9.05597 0.795306 5.95767 0.0299626 rs78174406 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.001000 0.000000 0.012900 0.005800 0.005127 0.001167 0.007051 0.003556 0.000000 0.002706 0.007404 0.002024 0.006359 0.007404 1416 28 242 36 0 83 934 52 41 276198 23996 34322 10124 18778 30676 126156 25698 6448 0.000036 0.000000 0.000058 0.000000 0.000000 0.000130 0.000016 0.000000 0.000310 5 0 1 0 0 2 1 0 1 1406 28 240 36 0 79 932 52 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8530 4395 12925 68 11 79 0.00790882 0.0024966 0.00607505 0.00790882 0.0024966 0.00607505 57 transition A G A>G 0.000 -4.314 255 PASS . 0.01 0.01 . 0.01 . 0.0036 0.0058 . 0.013 0.001 . . . . . 0.5217391 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . 0.0025 0.0061 0.0079 0.0025 0.0061 0.0079 . -0.5674 . . . . . . . . 4.957e-03 . . . 0.0015 0.0052 0.0049 0 0.0011 0.0083 0.0029 0.0026 0.0014 0.0047 0.0050 0 0.0025 0.0069 0.0029 0.0026 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.0036 . . . 0.54 0.3 182 ENSG00000223770 AK055932 LOC101927356 . . . . . . 437 0.00672556 64976 419 0.00698496 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78174406 . . . . . . . . . . . . . . . . . . . . . . . 0.006075 . . . . . 0.0009 0.0052 0.0069 0.0035 0 0.0018 0.0075 0.0068 0.0027 0.0016 0.0047 0.0143 0.0066 0 0.0034 0.0069 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs78174406 rs78174406 1 1538 10 1/0 0,255,255 +rs201766540 7 87526550 T A - DBF4 17364 DBF4 zinc finger NM_006716.3 1 3907 2025 NP_006707.1 Q9UBU7 substitution intron GRCh37 87526550 87526550 Chr7(GRCh37):g.87526550T>A 635-59 635-59 NM_006716.3:c.635-59T>A p.? p.? 8 7 604281 -59 3' 77.2411 3.52128 0.122561 0 77.2411 3.52128 0.122561 0 0 87526552 -25.7487 rs201766540 no no 0 T 0.000000 0 transversion T A T>A 0.024 1.093 189 PASS . . . . . . . . . . . . . . . . 0.13513513 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||DBF4|mRNA|CODING|NM_006716|) . . . . . . . 0.1225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.09 182 ENSG00000006634 DBF4 DBF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201766540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs201766540 rs201766540 1 1538 10 1/0 0,255,255 +rs553403919 (chr7:97576978 G/A) 7 97576978 G A Not on a known gene +. 7 97833308 GACA G - LMTK2 17880 Lemur tyrosine kinase 2 NM_014916.3 1 8946 4512 NP_055731.2 Q8IWU2 deletion in-frame exon GRCh37 97833313 97833315 Chr7(GRCh37):g.97833313_97833315del 4298 4300 NM_014916.3:c.4298_4300del p.Thr1433del p.Thr1433del 13 610989 58 3' 93.8233 11.438 0.995995 3.38014 93.8233 11.438 0.995995 3.73104 0 New Donor Site 97833312 II.86 0.232 69.3894 rs773211537 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246200 15296 33580 9850 17240 30778 111700 22272 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 72 Exomes CAA 255 Pass . . . . . . . . . . . ENSG00000164715:ENST00000297293:exon13:c.4294_4296del:p.1432_1432del LMTK2:uc003upd.2:exon13:c.4294_4296del:p.1432_1432del LMTK2:NM_014916:exon13:c.4294_4296del:p.1432_1432del . . 0.44444445 . . . 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 99 . . CODON_DELETION(MODERATE||aca/-|T1432-|LMTK2|mRNA|CODING|NM_014916|NM_014916.ex.13) . . . . . . . . . . . . . . . . 7.892e-06 . . . 0 1.106e-05 0 0 0 2.381e-05 0 0 0 9.444e-06 0 0 0 1.844e-05 0 0 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000164715 LMTK2 LMTK2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773211537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.062e-06 0 0 0 0 8.953e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +rs781445701 7 98256572 C T - NPTX2 7953 Neuronal pentraxin II NM_002523.2 1 2713 1296 NP_002514.1 P47972 substitution synonymous exon GRCh37 98256572 98256572 Chr7(GRCh37):g.98256572C>T 984 984 NM_002523.2:c.984C>T p.Asp328= p.Asp328Asp 4 600750 -85 5' 85.557 8.56441 0.839119 X.76 85.557 8.56441 0.839119 X.76 0 Pentaxin rs781445701 yes no Frequency 1 T 0.000000 0 0.000045 0.000131 0.000179 0.000000 0.000000 0.000032 0.000018 0.000000 0.000000 0.000179 11 2 6 0 0 1 2 0 0 246092 15294 33578 9842 17244 30782 111586 22280 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 6 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 59 Exomes COSM246094 Prostate 0.000567 1764 transition C T C>T 0.992 -0.037 D Asp GAC 0.539 D Asp GAT 0.461 328 255 PASS . . . . . . . . . . . ENSG00000106236:ENST00000265634:exon4:c.C984T:p.D328D NPTX2:uc003upl.2:exon4:c.C984T:p.D328D NPTX2:NM_002523:exon4:c.C984T:p.D328D . . 0.43835616 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 146.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D328|NPTX2|mRNA|CODING|NM_002523|NM_002523.ex.4) . . . . . . . 0.9589 . . . . . . . . 4.736e-05 . . . 9.694e-05 6.664e-05 0.0002 0 0 4.813e-05 0 6.061e-05 0.0001 5.66e-05 0.0002 0 0 3.683e-05 0 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.31 182 ENSG00000106236 NPTX2 NPTX2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781445701 . . . . . . ID\x3dCOSM246094\x3bOCCURENCE\x3d1(prostate) . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.47e-05 0.0002 0 0 0 1.792e-05 0 3.249e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +rs150504114 7 99032559 G A - ATP5J2-PTCD1 38844 ATP5J2-PTCD1 readthrough NM_001198879.1 -1 5538 2250 NP_001185808.1 substitution missense exon GRCh37 99032559 99032559 Chr7(GRCh37):g.99032559G>A 454 454 NM_001198879.1:c.454C>T p.Arg152Cys p.Arg152Cys 3 -147 5' 94.6745 X.23 0.990464 9.06998 94.6745 X.23 0.990464 9.06998 0 Cryptic Acceptor Strongly Activated 99032546 4.67722 7.3e-05 66.0569 V.08 0.000261 69.1725 rs150504114 yes no Frequency/1000G 2 G benign 0.000000 0 0.007188 0.000000 0.009200 0.000000 0.008900 0.025900 0.009093 0.001955 0.012870 0.015662 0.000530 0.009616 0.011561 0.000543 0.013455 0.015662 2521 47 443 159 10 296 1465 14 87 277238 24038 34420 10152 18868 30782 126720 25792 6466 0.000173 0.000000 0.000232 0.000000 0.000000 0.000260 0.000237 0.000000 0.000309 24 0 4 0 0 4 15 0 1 2473 47 435 159 10 288 1435 14 85 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8479 4391 12870 121 15 136 0.0140698 0.00340445 0.0104567 0.0140698 0.00340445 0.0104567 133 RCV000487439.1 germline reference population Benign 1 not specified transition C T C>T 0.976 2.707 R Arg CGC 0.190 C Cys TGC 0.552 152 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 255 PASS . 0.01 0.04 . 0.0026 . 0.0072 0.026 . 0.0089 0.0092 . . . . . 0.3882353 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.831 . @ . . . . . 1 0.988 . . 85.0 . . . 0.0034 0.011 0.014 0.0034 0.011 0.014 . 0.5607 0.543 0.561 c . . . . . 9.132e-03 . . . 0.0019 0.0107 0.0118 0.0007 0 0.0153 0.0168 0.0092 0.0019 0.0090 0.0113 0.0006 0.0002 0.0117 0.0187 0.0092 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.854 . . exonic exonic exonic . . 0.969 0.0072 . . . 0.42 0.21 182 . . . . . . 0.361 0.198 . 736 0.0113273 64976 700 0.0116694 59986 Uncertain_significance . 0 . 0.237 . . . . . . . . . 37 . 0.695 . . 0.824 . . . 0.543 0.309 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.846 . . 0 0 0 0 0 0 . 0.715 . . 0.555 . . . . . . 0 0.721 . . . . . 0.725 . 0.424 . HET 0 rs150504114 . . . . . . . 0.006868131868131868 0.0 0.03591160220994475 0.0 0.002638522427440633 15.1788 0.002943 . V.97 V.97 . 0.030000 . . . . 0.010457 . 0.808 . . V.97 0.0016 0.0095 0.0128 0.0158 0.0005 0.0005 0.0120 0.0149 0.0096 0.0025 0.0055 0.0143 0.0099 0.0006 0.0006 0.0084 0.0051 . . 0.730 . 2.837 2.837000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.184 0.229 . 0.677 . 0.656 2.837 0.917 0.04 . . rs150504114 rs150504114 1 1538 10 1/0 0,255,255 +rs150504114 7 99032559 G A - PTCD1 22198 Pentatricopeptide repeat domain 1 NM_015545.3 -1 5505 2103 NP_056360.2 O75127 substitution missense exon GRCh37 99032559 99032559 Chr7(GRCh37):g.99032559G>A 307 307 NM_015545.3:c.307C>T p.Arg103Cys p.Arg103Cys 2 614774 -147 5' 94.6745 X.23 0.990464 9.06998 94.6745 X.23 0.990464 9.06998 0 Cryptic Acceptor Strongly Activated 99032546 4.67722 7.3e-05 66.0569 V.08 0.000261 69.1725 rs150504114 yes no Frequency/1000G 2 G benign 0.000000 0 0.007188 0.000000 0.009200 0.000000 0.008900 0.025900 0.009093 0.001955 0.012870 0.015662 0.000530 0.009616 0.011561 0.000543 0.013455 0.015662 2521 47 443 159 10 296 1465 14 87 277238 24038 34420 10152 18868 30782 126720 25792 6466 0.000173 0.000000 0.000232 0.000000 0.000000 0.000260 0.000237 0.000000 0.000309 24 0 4 0 0 4 15 0 1 2473 47 435 159 10 288 1435 14 85 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8479 4391 12870 121 15 136 0.0140698 0.00340445 0.0104567 0.0140698 0.00340445 0.0104567 133 RCV000487439.1 germline reference population Benign 1 not specified CM109848 Complex I deficiency 20818383 DM? transition C T C>T 0.976 2.707 R Arg CGC 0.190 C Cys TGC 0.552 103 11 4 Tetraodon -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 245.23 50.17 Deleterious 0.02 3.IX good 5.986E-2 0.1692 255 PASS . 0.01 0.04 . 0.0026 . 0.0072 0.026 . 0.0089 0.0092 . . . . . 0.3882353 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.831 . @ . . . . . 1 0.988 . . 85.0 . . . 0.0034 0.011 0.014 0.0034 0.011 0.014 . 0.5607 0.543 0.561 c . . . . . 9.132e-03 . . . 0.0019 0.0107 0.0118 0.0007 0 0.0153 0.0168 0.0092 0.0019 0.0090 0.0113 0.0006 0.0002 0.0117 0.0187 0.0092 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.854 . . exonic exonic exonic . . 0.969 0.0072 . . . 0.42 0.21 182 . . . . . . 0.361 0.198 . 736 0.0113273 64976 700 0.0116694 59986 Uncertain_significance . 0 . 0.237 . . . . . . . . . 37 . 0.695 . . 0.824 . . . 0.543 0.309 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.846 . . 0 0 0 0 0 0 . 0.715 . . 0.555 . . . . . . 0 0.721 . . . . . 0.725 . 0.424 . HET 0 rs150504114 . . . . . . . 0.006868131868131868 0.0 0.03591160220994475 0.0 0.002638522427440633 15.1788 0.002943 . V.97 V.97 . 0.030000 . . . . 0.010457 . 0.808 . . V.97 0.0016 0.0095 0.0128 0.0158 0.0005 0.0005 0.0120 0.0149 0.0096 0.0025 0.0055 0.0143 0.0099 0.0006 0.0006 0.0084 0.0051 . . 0.730 . 2.837 2.837000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.184 0.229 . 0.677 . 0.656 2.837 0.917 0.04 . . rs150504114 rs150504114 1 1538 10 1/0 0,255,255 +rs185350046 7 99710548 G T - TAF6 11540 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa NM_001190415.1 -1 2433 2145 NP_001177344.1 substitution intron GRCh37 99710548 99710548 Chr7(GRCh37):g.99710548G>T 566-8 566-8 NM_001190415.1:c.566-8C>A p.? p.? 6 5 602955 -8 3' 83.5031 9.88522 0.836088 6.75295 80.3075 8.33498 0.439455 3.76763 -0.223162 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30814 8680 836 302 1612 0 14924 3484 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.992 0.851 245 PASS . . . . . . . . . . . . . . . . 0.29310346 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . I.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.59 0.23 182 ENSG00000106290 TAF6 TAF6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.114 . . . . . . II.38 . . . . . . . . . 0 3.245e-05 0 0 0 0 6.701e-05 0 . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs188001537 7 99818084 C A - GATS 29954 GATS, stromal antigen 3 opposite strand NM_178831.6 -1 2740 492 NP_849153.3 Q8NAP1 substitution intron GRCh37 99818084 99818084 Chr7(GRCh37):g.99818084C>A *48+3109 *48+3109 NM_178831.6:c.*48+3109G>T p.? p.? 4 4 3109 5' 76.7703 7.23301 0.849089 6.34532 76.7703 7.23301 0.849089 6.34532 0 rs188001537 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.000000 0.002900 0.001252 0.002009 0.002523 0.004252 0.000000 0.000197 0.001064 0.000000 0.004301 0.004252 335 46 86 42 0 6 128 0 27 267472 22900 34088 9878 18728 30458 120246 24896 6278 0.000007 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 333 46 84 42 0 6 128 0 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8390 4134 12524 6 8 14 0.000714626 0.00193143 0.00111661 0.000714626 0.00193143 0.00111661 10 transversion G T G>T 0.622 1.497 255 PASS 0.002 0.0009 0.0028 . . 0.0008 0.0006 0.0029 . . . ENSG00000213413:ENST00000317271:exon3:c.C466A:p.P156T . PVRIG:NM_024070:exon3:c.C466A:p.P156T . . 0.53125 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.355 . @ . . . . . 1 0.266 . . 64.0 . . . 0.0019 0.0011 0.0007 0.0019 0.0011 0.0007 . -0.7763 -0.814 -0.776 c . . . . . 1.086e-03 . . . 0.0026 0.0019 0.0029 0 0 0.0027 0.0039 0.0001 0.0031 0.0015 0.0029 0 0 0.0019 0.0045 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.295 0.0006 . . . 0.21 0.5 182 ENSG00000213413 PVRIG PVRIG . . . 1.000 0.747 . 81 0.00124661 64976 78 0.0013003 59986 Uncertain_significance . 0 . . . . . . T 0.314 0.013 . . 37 . 0.247 . . 0.136 . . . 0.181 0.513 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.740 . . 0 0 0 0 0 0 . 0.320 . . 0.296 . . . . . . 4 0.097 . . . . . 0.321 . 0.058 . HET 0.17 rs188001537 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0027624309392265192 0.0 0.0 8.491 0.001732 ENST00000317271 III.44 II.53 . 0.150000 Q6DKI7 . . . 0.001117 . 0.205 . . II.53 0.0021 0.0013 0.0025 0.0043 0 0 0.0011 0.0043 0.0002 0.0018 0.0010 0.0024 0.0033 0 0 0.0006 0.0041 . . 0.465 . 0.731 0.731000 . . 0.150000 . . 1.0E-255 0.150 0.234 . 0.181 0.012 . 0.244 . 0.288 0.731 0.548 0.0028 . . rs188001537 rs188001537 1 1538 10 1/0 0,255,255 +rs188001537 7 99818084 C A - PVRIG 32190 Poliovirus receptor related immunoglobulin domain containing NM_024070.3 1 1569 981 NP_076975.2 Q6DKI7 substitution missense exon GRCh37 99818084 99818084 Chr7(GRCh37):g.99818084C>A 466 466 NM_024070.3:c.466C>A p.Pro156Thr p.Pro156Thr 3 617012 -4 5' 80.5382 VI.52 0.822613 8.76069 80.5382 VI.52 0.830394 9.67262 0.00315296 rs188001537 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.000000 0.002900 0.001252 0.002009 0.002523 0.004252 0.000000 0.000197 0.001064 0.000000 0.004301 0.004252 335 46 86 42 0 6 128 0 27 267472 22900 34088 9878 18728 30458 120246 24896 6278 0.000007 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 333 46 84 42 0 6 128 0 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8390 4134 12524 6 8 14 0.000714626 0.00193143 0.00111661 0.000714626 0.00193143 0.00111661 10 transversion C A C>A 0.622 1.497 P Pro CCA 0.274 T Thr ACA 0.280 156 11 4 White-tuffed-ear marmoset -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 75.14 0.00 Tolerated 0.3 III.48 good 3.844E-1 0.02272 255 PASS 0.002 0.0009 0.0028 . . 0.0008 0.0006 0.0029 . . . ENSG00000213413:ENST00000317271:exon3:c.C466A:p.P156T . PVRIG:NM_024070:exon3:c.C466A:p.P156T . . 0.53125 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.355 . @ . . . . . 1 0.266 . . 64.0 . . . 0.0019 0.0011 0.0007 0.0019 0.0011 0.0007 . -0.7763 -0.814 -0.776 c . . . . . 1.086e-03 . . . 0.0026 0.0019 0.0029 0 0 0.0027 0.0039 0.0001 0.0031 0.0015 0.0029 0 0 0.0019 0.0045 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.295 0.0006 . . . 0.21 0.5 182 ENSG00000213413 PVRIG PVRIG . . . 1.000 0.747 . 81 0.00124661 64976 78 0.0013003 59986 Uncertain_significance . 0 . . . . . . T 0.314 0.013 . . 37 . 0.247 . . 0.136 . . . 0.181 0.513 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.740 . . 0 0 0 0 0 0 . 0.320 . . 0.296 . . . . . . 4 0.097 . . . . . 0.321 . 0.058 . HET 0.17 rs188001537 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0027624309392265192 0.0 0.0 8.491 0.001732 ENST00000317271 III.44 II.53 . 0.150000 Q6DKI7 . . . 0.001117 . 0.205 . . II.53 0.0021 0.0013 0.0025 0.0043 0 0 0.0011 0.0043 0.0002 0.0018 0.0010 0.0024 0.0033 0 0 0.0006 0.0041 . . 0.465 . 0.731 0.731000 . . 0.150000 . . 1.0E-255 0.150 0.234 . 0.181 0.012 . 0.244 . 0.288 0.731 0.548 0.0028 . . rs188001537 rs188001537 1 1538 10 1/0 0,255,255 +rs114681724 7 99820168 C T - GATS 29954 GATS, stromal antigen 3 opposite strand NM_178831.6 -1 2740 492 NP_849153.3 Q8NAP1 substitution intron GRCh37 99820168 99820168 Chr7(GRCh37):g.99820168C>T *48+1025 *48+1025 NM_178831.6:c.*48+1025G>A p.? p.? 4 4 1025 5' 76.7703 7.23301 0.849089 6.34532 76.7703 7.23301 0.849089 6.34532 0 rs114681724 yes no Frequency/1000G 2 C 0.000000 0 0.006589 0.022700 0.000000 0.000000 0.000000 0.004300 0.005849 0.018569 0.002387 0.003311 0.000617 0.000000 0.000667 0.000000 0.005092 0.018569 181 162 2 1 1 0 10 0 5 30944 8724 838 302 1622 0 14984 3492 982 0.011050 0.012346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 177 158 2 1 1 0 10 0 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 0.528 255 PASS 0.02 0.0041 0.0028 . . 0.023 0.0066 0.0043 . . . . . . . . 0.5092593 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . -0.3225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0066 . . . 0.24 0.35 182 ENSG00000239521 GATS GATS . . . . . . 114 0.00175449 64976 81 0.00135032 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs114681724 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0186 0.0058 0.0024 0.0033 0.0006 0 0.0007 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs114681724 rs114681724 1 1538 10 1/0 0,253,255 +rs114681724 7 99820168 C T - PVRIG 32190 Poliovirus receptor related immunoglobulin domain containing NM_024070.3 1 1569 981 NP_076975.2 Q6DKI7 substitution downstream GRCh37 99820168 99820168 Chr7(GRCh37):g.99820168C>T *1294 *1294 NM_024070.3:c.*1294C>T p.? p.? 6 617012 1618 3' 82.3737 X.34 0.913551 13.8858 82.3737 X.34 0.913551 13.8858 0 rs114681724 yes no Frequency/1000G 2 C 0.000000 0 0.006589 0.022700 0.000000 0.000000 0.000000 0.004300 0.005849 0.018569 0.002387 0.003311 0.000617 0.000000 0.000667 0.000000 0.005092 0.018569 181 162 2 1 1 0 10 0 5 30944 8724 838 302 1622 0 14984 3492 982 0.011050 0.012346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 177 158 2 1 1 0 10 0 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 0.528 255 PASS 0.02 0.0041 0.0028 . . 0.023 0.0066 0.0043 . . . . . . . . 0.5092593 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . -0.3225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0066 . . . 0.24 0.35 182 ENSG00000239521 GATS GATS . . . . . . 114 0.00175449 64976 81 0.00135032 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs114681724 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0186 0.0058 0.0024 0.0033 0.0006 0 0.0007 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs114681724 rs114681724 1 1538 10 1/0 0,253,255 +. 7 99936520 A G - STAG3L5P 48896 Stromal antigen 3-like 5 pseudogene NR_103720.1 1 729 0 substitution intron GRCh37 99936520 99936520 Chr7(GRCh37):g.99936520A>G 345+8 345+8 NR_103720.1:n.345+8A>G p.? p.? 3 3 8 5' 82.8297 9.65432 0.926907 4.28831 82.8297 9.65432 0.935345 4.92352 0.00303446 transition A G A>G 0.047 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.1903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000242294 . . . dist\x3d2590\x3bdist\x3d13266 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 99936520 A G - STAG3L5P-PVRIG2P-PILRB 48898 STAG3L5P-PVRIG2P-PILRB readthrough NR_036569.1 1 3683 0 substitution intron GRCh37 99936520 99936520 Chr7(GRCh37):g.99936520A>G 476+8 476+8 NR_036569.1:n.476+8A>G p.? p.? 3 3 8 5' 82.8297 9.65432 0.926907 4.28831 82.8297 9.65432 0.935345 4.92352 0.00303446 transition A G A>G 0.047 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.1903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000242294 . . . dist\x3d2590\x3bdist\x3d13266 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs532285838 7 99950416 C T - PVRIG2P 48897 Poliovirus receptor related immunoglobulin domain containing 2, pseudogene NR_103728.1 1 1264 0 substitution exon GRCh37 99950416 99950416 Chr7(GRCh37):g.99950416C>T 391 391 NR_103728.1:n.391C>T 2 -122 5' 80.5382 VI.52 0.822613 VIII.22 80.5382 VI.52 0.822613 VIII.22 0 Cryptic Acceptor Weakly Activated 99950427 5.13796 0.021908 77.2432 5.10181 0.072022 81.3451 rs532285838 yes no Frequency/1000G 2 T 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition C T C>T 0.024 -0.602 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.3888889 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 90.0 . . . . . . . . . . -0.4559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5510C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs532285838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs532285838 7 99950416 C T - STAG3L5P-PVRIG2P-PILRB 48898 STAG3L5P-PVRIG2P-PILRB readthrough NR_036569.1 1 3683 0 substitution exon GRCh37 99950416 99950416 Chr7(GRCh37):g.99950416C>T 1281 1281 NR_036569.1:n.1281C>T 9 33 3' 80.943 5.63735 0.659669 2.07998 80.943 5.63735 0.659669 1.37622 0 Cryptic Acceptor Weakly Activated 99950427 5.13796 0.021908 77.2432 5.10181 0.072022 81.3451 rs532285838 yes no Frequency/1000G 2 T 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition C T C>T 0.024 -0.602 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.3888889 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 90.0 . . . . . . . . . . -0.4559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5510C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs532285838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs547186306 7 99950417 A G - PVRIG2P 48897 Poliovirus receptor related immunoglobulin domain containing 2, pseudogene NR_103728.1 1 1264 0 substitution exon GRCh37 99950417 99950417 Chr7(GRCh37):g.99950417A>G 392 392 NR_103728.1:n.392A>G 2 -121 5' 80.5382 VI.52 0.822613 VIII.22 80.5382 VI.52 0.822613 VIII.22 0 Cryptic Acceptor Strongly Activated 99950427 5.13796 0.021908 77.2432 6.17845 0.06279 77.2432 rs547186306 yes no Frequency/1000G 2 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition A G A>G 0.000 -0.279 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.475 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 80.0 . . . . . . . . . . -0.0642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5509A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs547186306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs547186306 7 99950417 A G - STAG3L5P-PVRIG2P-PILRB 48898 STAG3L5P-PVRIG2P-PILRB readthrough NR_036569.1 1 3683 0 substitution exon GRCh37 99950417 99950417 Chr7(GRCh37):g.99950417A>G 1282 1282 NR_036569.1:n.1282A>G 9 34 3' 80.943 5.63735 0.659669 2.07998 80.943 5.63735 0.659669 2.50107 0 Cryptic Acceptor Strongly Activated 99950427 5.13796 0.021908 77.2432 6.17845 0.06279 77.2432 rs547186306 yes no Frequency/1000G 2 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition A G A>G 0.000 -0.279 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.475 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 80.0 . . . . . . . . . . -0.0642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5509A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs547186306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs559354079 7 99950418 T C - PVRIG2P 48897 Poliovirus receptor related immunoglobulin domain containing 2, pseudogene NR_103728.1 1 1264 0 substitution exon GRCh37 99950418 99950418 Chr7(GRCh37):g.99950418T>C 393 393 NR_103728.1:n.393T>C 2 -120 5' 80.5382 VI.52 0.822613 VIII.22 80.5382 VI.52 0.822613 VIII.22 0 rs559354079 yes no Frequency/1000G 2 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition T C T>C 0.000 -0.602 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.4318182 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . -0.2135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5508T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs559354079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs559354079 7 99950418 T C - STAG3L5P-PVRIG2P-PILRB 48898 STAG3L5P-PVRIG2P-PILRB readthrough NR_036569.1 1 3683 0 substitution exon GRCh37 99950418 99950418 Chr7(GRCh37):g.99950418T>C 1283 1283 NR_036569.1:n.1283T>C 9 35 3' 80.943 5.63735 0.659669 2.07998 80.943 5.63735 0.659669 2.20381 0 rs559354079 yes no Frequency/1000G 2 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition T C T>C 0.000 -0.602 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.4318182 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . -0.2135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5508T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs559354079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs111760099 7 100224941 C A - TFR2 11762 Transferrin receptor 2 NM_003227.3 -1 2888 2406 NP_003218.2 Q9UP52 substitution synonymous exon GRCh37 100224941 100224941 Chr7(GRCh37):g.100224941C>A 1941 1941 NM_003227.3:c.1941G>T p.Gly647= p.Gly647Gly 16 604720 -55 5' 61.552 1.30267 0.108531 4.53399 61.552 1.30267 0.108531 4.42374 0 Cryptic Acceptor Strongly Activated 100224926 4.95098 0.193663 76.0204 VI.53 0.39218 76.0204 Transferrin receptor-like, dimerisation domain rs111760099 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.018200 0.000000 0.000000 0.000000 0.002900 0.001883 0.013887 0.002018 0.000117 0.000000 0.000131 0.000607 0.000055 0.002499 0.013887 335 225 50 1 0 3 43 1 12 177930 16202 24772 8518 11810 22838 70868 18120 4802 0.000022 0.000247 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 331 221 50 1 0 3 43 1 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8063 4107 12170 7 35 42 0.00086741 0.00845002 0.00343924 0.00086741 0.00845002 0.00343924 12 transversion G T G>T 0.850 -0.682 G Gly GGG 0.250 G Gly GGT 0.162 647 255 PASS 0.0041 0.0018 0.01 . . 0.018 0.0052 0.0029 . . . . . . . . 0.43103448 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . . 0.0084 0.0034 0.0009 0.0085 0.0034 0.0009 . I.02 . . . . . . . . 7.400e-04 . . . 0.0185 0.0025 0.0030 0 0 0.0006 0 0.0001 0.0193 0.0022 0 0 0 0.0003 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0052 . . . 0.37 0.44 182 ENSG00000106327 TFR2 TFR2 . . . . . . 79 0.00121583 64976 53 0.000883539 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111760099 . . . . . . . . . . . . . . . . . . . . . . . 0.003439 . . . . . 0.0145 0.0014 0.0020 0.0001 0 6.836e-05 0.0006 0.0021 0.0001 0.0133 0.0042 0.0012 0 0 0 0.0006 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs111760099 rs111760099 1 1538 10 1/0 0,255,255 +rs140422470 7 100245127 G A - ACTL6B 160 Actin-like 6B NM_016188.4 -1 1537 1281 NP_057272.1 O94805 substitution synonymous exon GRCh37 100245127 100245127 Chr7(GRCh37):g.100245127G>A 699 699 NM_016188.4:c.699C>T p.Asn233= p.Asn233Asn 8 612458 30 3' 83.7594 9.16781 0.932835 7.79303 83.7594 9.16781 0.932835 7.42026 0 Actin-like rs140422470 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000553 0.000792 0.001266 0.000104 0.000000 0.000136 0.000606 0.000000 0.001272 0.001266 150 19 43 1 0 4 75 0 8 271124 23990 33970 9588 18808 29404 123808 25268 6288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 150 19 43 1 0 4 75 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4403 12993 10 3 13 0.00116279 0.00068089 0.000999539 0.00116279 0.00068089 0.000999539 70 transition C T C>T 1.000 1.981 N Asn AAC 0.536 N Asn AAT 0.464 233 255 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000077080:ENST00000160382:exon8:c.C699T:p.N233N ACTL6B:uc003uvy.3:exon8:c.C699T:p.N233N ACTL6B:NM_016188:exon8:c.C699T:p.N233N . . 0.5483871 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 93.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N233|ACTL6B|mRNA|CODING|NM_016188|NM_016188.ex.8) 0.0007 0.001 0.0012 0.0007 0.001 0.0012 . I.23 . . . . . . . . 5.369e-04 . . . 0.0005 0.0007 0.0008 0 0 0.0010 0.0015 0.0002 0.0006 0.0005 0.0007 0 0 0.0007 0.0016 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.46 0.44 182 ENSG00000077080 ACTL6B ACTL6B . . . . . . 46 0.000707954 64976 45 0.000750175 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140422470 . . . . . . . . . . . . . . . . . . . . . . . 0.001000 . . . . III.58 0.0009 0.0006 0.0013 0.0001 0 0 0.0006 0.0011 0.0001 0.0007 0.0005 0.0012 0 0 0 0.0005 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs140422470 rs140422470 1 1538 10 1/0 0,255,255 +. 7 100280908 G A - GIGYF1 9126 GRB10 interacting GYF protein 1 NM_022574.5 -1 6531 3108 NP_072096.2 O75420 substitution intron GRCh37 100280908 100280908 Chr7(GRCh37):g.100280908G>A 2193+19 2193+19 NM_022574.5:c.2193+19C>T p.? p.? 18 18 612064 19 5' 72.246 4.46441 0.502075 9.15145 72.246 4.46441 0.502075 VIII.83 0 transition C T C>T 0.000 -3.184 255 PASS . . . . . . . . . . . . . . . . 0.46308726 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.2305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146830 GIGYF1 GIGYF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs748409784 7 100281597 A C - GIGYF1 9126 GRB10 interacting GYF protein 1 NM_022574.5 -1 6531 3108 NP_072096.2 O75420 substitution intron GRCh37 100281597 100281597 Chr7(GRCh37):g.100281597A>C 1868+46 1868+46 NM_022574.5:c.1868+46T>G p.? p.? 15 15 612064 46 5' 84.8523 9.73418 0.929416 13.0241 84.8523 9.73418 0.929416 13.4016 0 transversion T G T>G 0.000 -0.037 176 PASS . . . . . . . . . . . . . . . . 0.10638298 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.1064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146830 GIGYF1 GIGYF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 100282569 A AGGATGG - GIGYF1 9126 GRB10 interacting GYF protein 1 NM_022574.5 -1 6531 3108 NP_072096.2 O75420 duplication intron GRCh37 100282569 100282570 Chr7(GRCh37):g.100282570_100282575dup 1291-58 1291-53 NM_022574.5:c.1291-58_1291-53dup p.? p.? 12 11 612064 -52 3' 83.0825 5.59863 0.572621 6.46509 83.0825 5.59863 0.572621 6.41205 0 rs571598936 yes no Frequency/1000G 2 0.001198 GGATGG 6 0.001198 0.003800 0.000000 0.000000 0.001000 0.000000 0.001108 0.004287 0.002040 0.002469 0.000000 0.000286 0.000677 0.000043 0.001882 0.004287 269 91 62 23 0 8 73 1 11 242786 21228 30398 9314 17032 28010 107834 23126 5844 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 269 91 62 23 0 8 73 1 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8221 4212 12433 6 23 29 0.000729306 0.00543093 0.00232707 0.000729306 0.00543093 0.00232707 9 CCATCC 255 Pass . . . . . 0.0038 0.0012 . . 0.001 . . . . . . 0.30357143 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56 . . INTRON(MODIFIER||||GIGYF1|mRNA|CODING|NM_022574|) . . . 0.0054 0.0023 0.0007 . . . . . . . . . . . . . . 0.0031 0.0008 0.0006 0 0 0.0009 0.0023 0.0002 0.0028 0.0006 0.0006 0 0 0.0006 0.0023 0.0002 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000146830 GIGYF1 GIGYF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs571598936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0010 0.0020 0.0026 0 5.094e-05 0.0007 0.0018 0.0003 0.0050 0.0018 0.0024 0 0 0 0.0006 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,52 +rs572928987 7 100283157 G A - GIGYF1 9126 GRB10 interacting GYF protein 1 NM_022574.5 -1 6531 3108 NP_072096.2 O75420 substitution intron GRCh37 100283157 100283157 Chr7(GRCh37):g.100283157G>A 1055-53 1055-53 NM_022574.5:c.1055-53C>T p.? p.? 10 9 612064 -53 3' 84.3427 12.0787 0.986302 X.43 84.3427 12.0787 0.986302 11.1542 0 Cryptic Acceptor Strongly Activated 100283147 6.61618 0.171216 73.6194 7.25206 0.335562 76.9021 rs572928987 yes no Frequency 1 G 0.000000 0 0.000259 0.000115 0.001193 0.000000 0.000000 0.000000 0.000334 0.000000 0.001018 0.001193 8 1 1 0 0 0 5 0 1 30912 8706 838 302 1622 0 14968 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.46153846 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||GIGYF1|mRNA|CODING|NM_022574|) . . . . . . . 0.0572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146830 GIGYF1 GIGYF1 . . . . . . 42 0.000646393 64976 42 0.000700163 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs572928987 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0012 0 0 0 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs11976235 7 100320381 C T - EPO 3415 Erythropoietin NM_000799.3 1 1330 582 NP_000790.2 P01588 substitution missense exon GRCh37 100320381 100320381 Chr7(GRCh37):g.100320381C>T 341 341 NM_000799.3:c.341C>T p.Pro114Leu p.Pro114Leu 4 133170 -86 5' 95.6376 X.36 0.995505 12.391 95.6376 X.36 0.995505 12.391 0 Cryptic Acceptor Strongly Activated 100320380 3.69044 0.428235 80.2567 4.32456 0.705289 80.2567 Erythropoietin/thrombopoeitin Erythropoietin Four-helical cytokine-like, core rs11976235 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.001000 0.008600 0.003369 0.000708 0.003603 0.011045 0.000053 0.001040 0.004949 0.000233 0.002321 0.011045 933 17 124 112 1 32 626 6 15 276916 24004 34412 10140 18862 30780 126498 25758 6462 0.000036 0.000083 0.000058 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 5 1 1 0 0 0 3 0 0 923 15 122 112 1 32 620 6 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8539 4402 12941 61 4 65 0.00709302 0.000907853 0.00499769 0.00709302 0.000907853 0.00499769 36 transition C T C>T 0.055 0.286 P Pro CCG 0.115 L Leu CTG 0.404 114 12 9 Cat -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0.0027 0.01 . 0.0013 . 0.0018 0.0086 . 0.001 0.002 ENSG00000130427:ENST00000252723:exon4:c.C341T:p.P114L . EPO:NM_000799:exon4:c.C341T:p.P114L . . 0.43661973 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.176 . @ . . . . . 1 0.113 . . 71.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P114L|EPO|mRNA|CODING|NM_000799|NM_000799.ex.4) 0.0009 0.005 0.0071 0.0009 0.005 0.0071 . -0.8601 -0.917 -0.860 c . . . . . 3.678e-03 . . . 0.0010 0.0041 0.0033 0.0002 0 0.0072 0.0028 0.0010 0.0007 0.0035 0.0033 0.0001 0.0003 0.0056 0.0029 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.433 . . exonic exonic exonic . . 0.217 0.0018 . . . 0.16 0.45 182 ENSG00000130427 EPO EPO . . . 1.000 0.480 . 238 0.00366289 64976 229 0.00381756 59986 Benign . 0 . 0.087 . . . . T 0.161 0.006 . . 37 . 0.255 . . 0.292 . . . 0.440 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.196 . . 0.162 . . . . . . 0 0.363 . . . . . 0.081 . 0.109 . HET 0.08 rs11976235 . . . . . . . 0.0027472527472527475 0.0 0.013812154696132596 0.0 0.0013192612137203166 III.83 0.001605 ENST00000252723 4.IV I.46 . 0.080000 . . . . 0.004998 . 0.107 . . . 0.0007 0.0035 0.0035 0.0112 5.8e-05 0.0003 0.0051 0.0024 0.0010 0.0007 0.0022 0.0060 0.0066 0 0 0.0035 0.0020 . . 0.340 . 0.190 0.190000 . . 0.080000 . . 1.0E-255 0.004 0.165 . 0.284 0.370 . 0.094 . 0.437 0.190 0.871 0.01 rs11976235 rs11976235 rs11976235 rs11976235 1 1538 10 1/0 0,255,255 +rs377399677 7 100484605 C T - SRRT 24101 Serrate RNA effector molecule homolog (Arabidopsis) NM_015908.5 1 3013 2631 NP_056992.4 Q9BXP5 substitution intron GRCh37 100484605 100484605 Chr7(GRCh37):g.100484605C>T 1821+16 1821+16 NM_015908.5:c.1821+16C>T p.? p.? 14 14 614469 16 5' 66.5208 3.40953 0.226073 6.22194 66.5208 3.40953 0.226073 5.82578 0 rs377399677 yes no Frequency 1 C 0.000000 0 0.000069 0.000458 0.000088 0.000000 0.000000 0.000000 0.000024 0.000000 0.000312 0.000458 19 11 3 0 0 0 3 0 2 274418 24016 34224 9808 18838 30432 125164 25534 6402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 11 3 0 0 0 3 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4403 12999 0 3 3 0 0.00068089 0.000230734 0 0.00068089 0.000230734 79 transition C T C>T 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.506383 . . @ 119 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 235.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . 0.8302 . . . . . . . . 7.104e-05 . . . 0.0006 0.0001 0.0002 0 0 2.403e-05 0 0 0.0004 5.711e-05 8.921e-05 0 0 1.858e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.24 182 ENSG00000087087 SRRT SRRT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs377399677 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0.0006 6.572e-05 8.986e-05 0 0 0 1.815e-05 0.0004 0 0.0002 9.691e-05 0 0 0 0 6.67e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 . . rs377399677 rs377399677 1 1538 10 1/0 0,223,238 +rs377399677 7 100484605 C T - UFSP1 33821 UFM1-specific peptidase 1 (non-functional) NM_001015072.3 -1 996 429 NP_001015072.2 Q6NVU6 substitution downstream GRCh37 100484605 100484605 Chr7(GRCh37):g.100484605C>T *1859 *1859 NM_001015072.3:c.*1859G>A p.? p.? 1 611481 rs377399677 yes no Frequency 1 C 0.000000 0 0.000069 0.000458 0.000088 0.000000 0.000000 0.000000 0.000024 0.000000 0.000312 0.000458 19 11 3 0 0 0 3 0 2 274418 24016 34224 9808 18838 30432 125164 25534 6402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 11 3 0 0 0 3 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4403 12999 0 3 3 0 0.00068089 0.000230734 0 0.00068089 0.000230734 79 transition G A G>A 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.506383 . . @ 119 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 235.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . 0.8302 . . . . . . . . 7.104e-05 . . . 0.0006 0.0001 0.0002 0 0 2.403e-05 0 0 0.0004 5.711e-05 8.921e-05 0 0 1.858e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.24 182 ENSG00000087087 SRRT SRRT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs377399677 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0.0006 6.572e-05 8.986e-05 0 0 0 1.815e-05 0.0004 0 0.0002 9.691e-05 0 0 0 0 6.67e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 . . rs377399677 rs377399677 1 1538 10 1/0 0,223,238 +rs141166290 7 100486464 T G - ACHE 108 Acetylcholinesterase (Cartwright blood group) NM_001302621.1 -1 2289 1854 NP_001289550.1 substitution downstream GRCh37 100486464 100486464 Chr7(GRCh37):g.100486464T>G *2115 *2115 NM_001302621.1:c.*2115A>C p.? p.? 5 100740 2246 3' 77.5646 X.78 0.914599 13.069 77.5646 X.78 0.914599 13.069 0 rs141166290 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000000 0.003100 0.000000 0.000000 0.002900 0.000911 0.000459 0.001861 0.000110 0.000000 0.001527 0.000895 0.000000 0.002575 0.001861 245 11 62 1 0 45 110 0 16 268930 23944 33312 9114 18776 29464 122840 25266 6214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245 11 62 1 0 45 110 0 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4406 12990 16 0 16 0.00186047 0 0.0012302 0.00186047 0 0.0012302 167 transversion A C A>C 0.984 1.013 255 PASS . 0.0009 0.01 . . . 0.001 0.0029 . . 0.0031 ENSG00000176125:ENST00000388761:exon1:c.A429C:p.X143C UFSP1:uc003uxc.4:exon1:c.A429C:p.X143C UFSP1:NM_001015072:exon1:c.A429C:p.X143C . . 0.5169492 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.300 . @ . . . . . 0 0.107 . . 118.0 . . . . 0.0012 0.0019 . 0.0012 0.0019 . 0.5092 0.231 0.509 c . . . . . 8.999e-04 . . . 0.0003 0.0012 0.0013 0 0 0.0013 0.0031 0.0025 0.0003 0.0009 0.0012 0 0 0.0009 0.0032 0.0025 stoploss stoploss stoploss . . . exonic exonic exonic . . 0.362 0.0010 . . . 0.27 0.4 182 ENSG00000176125 UFSP1 UFSP1 . . . 1.000 0.747 . 49 0.000754125 64976 44 0.000733504 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 9 . . . . . . 0.251 . . . HET 0.14 . . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 VII.69 0.0 ENST00000388761 IV.47 III.25 . . . . . . 0.001230 . 0.479 . . III.25 0.0005 0.0009 0.0019 0.0001 0 0 0.0009 0.0027 0.0015 0.0005 0.0007 0.0012 0 0 0 0.0010 0.0020 . . 0.020 . 0.622 0.622000 . . . . . 1.0E-255 0.255 0.247 . 0.114 0.001 . 0.279 . 0.162 0.622 0.048 0.01 . . rs141166290 rs141166290 1 1538 10 1/0 0,253,255 +rs141166290 7 100486464 T G - SRRT 24101 Serrate RNA effector molecule homolog (Arabidopsis) NM_015908.5 1 3013 2631 NP_056992.4 Q9BXP5 substitution downstream GRCh37 100486464 100486464 Chr7(GRCh37):g.100486464T>G *294 *294 NM_015908.5:c.*294T>G p.? p.? 20 614469 370 3' 85.7087 X.08 0.980002 6.45388 85.7087 X.08 0.980002 6.45388 0 rs141166290 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000000 0.003100 0.000000 0.000000 0.002900 0.000911 0.000459 0.001861 0.000110 0.000000 0.001527 0.000895 0.000000 0.002575 0.001861 245 11 62 1 0 45 110 0 16 268930 23944 33312 9114 18776 29464 122840 25266 6214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245 11 62 1 0 45 110 0 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4406 12990 16 0 16 0.00186047 0 0.0012302 0.00186047 0 0.0012302 167 transversion T G T>G 0.984 1.013 255 PASS . 0.0009 0.01 . . . 0.001 0.0029 . . 0.0031 ENSG00000176125:ENST00000388761:exon1:c.A429C:p.X143C UFSP1:uc003uxc.4:exon1:c.A429C:p.X143C UFSP1:NM_001015072:exon1:c.A429C:p.X143C . . 0.5169492 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.300 . @ . . . . . 0 0.107 . . 118.0 . . . . 0.0012 0.0019 . 0.0012 0.0019 . 0.5092 0.231 0.509 c . . . . . 8.999e-04 . . . 0.0003 0.0012 0.0013 0 0 0.0013 0.0031 0.0025 0.0003 0.0009 0.0012 0 0 0.0009 0.0032 0.0025 stoploss stoploss stoploss . . . exonic exonic exonic . . 0.362 0.0010 . . . 0.27 0.4 182 ENSG00000176125 UFSP1 UFSP1 . . . 1.000 0.747 . 49 0.000754125 64976 44 0.000733504 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 9 . . . . . . 0.251 . . . HET 0.14 . . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 VII.69 0.0 ENST00000388761 IV.47 III.25 . . . . . . 0.001230 . 0.479 . . III.25 0.0005 0.0009 0.0019 0.0001 0 0 0.0009 0.0027 0.0015 0.0005 0.0007 0.0012 0 0 0 0.0010 0.0020 . . 0.020 . 0.622 0.622000 . . . . . 1.0E-255 0.255 0.247 . 0.114 0.001 . 0.279 . 0.162 0.622 0.048 0.01 . . rs141166290 rs141166290 1 1538 10 1/0 0,253,255 +rs141166290 7 100486464 T G - UFSP1 33821 UFM1-specific peptidase 1 (non-functional) NM_001015072.3 -1 996 429 NP_001015072.2 Q6NVU6 substitution stop loss exon GRCh37 100486464 100486464 Chr7(GRCh37):g.100486464T>G 429 429 NM_001015072.3:c.429A>C p.*143Cysext*? p.*143Cysext*? 1 611481 rs141166290 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000000 0.003100 0.000000 0.000000 0.002900 0.000911 0.000459 0.001861 0.000110 0.000000 0.001527 0.000895 0.000000 0.002575 0.001861 245 11 62 1 0 45 110 0 16 268930 23944 33312 9114 18776 29464 122840 25266 6214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245 11 62 1 0 45 110 0 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4406 12990 16 0 16 0.00186047 0 0.0012302 0.00186047 0 0.0012302 167 transversion A C A>C 0.984 1.013 * * TGA 0.489 C Cys TGC 0.552 143 255 PASS . 0.0009 0.01 . . . 0.001 0.0029 . . 0.0031 ENSG00000176125:ENST00000388761:exon1:c.A429C:p.X143C UFSP1:uc003uxc.4:exon1:c.A429C:p.X143C UFSP1:NM_001015072:exon1:c.A429C:p.X143C . . 0.5169492 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.300 . @ . . . . . 0 0.107 . . 118.0 . . . . 0.0012 0.0019 . 0.0012 0.0019 . 0.5092 0.231 0.509 c . . . . . 8.999e-04 . . . 0.0003 0.0012 0.0013 0 0 0.0013 0.0031 0.0025 0.0003 0.0009 0.0012 0 0 0.0009 0.0032 0.0025 stoploss stoploss stoploss . . . exonic exonic exonic . . 0.362 0.0010 . . . 0.27 0.4 182 ENSG00000176125 UFSP1 UFSP1 . . . 1.000 0.747 . 49 0.000754125 64976 44 0.000733504 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 9 . . . . . . 0.251 . . . HET 0.14 . . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 VII.69 0.0 ENST00000388761 IV.47 III.25 . . . . . . 0.001230 . 0.479 . . III.25 0.0005 0.0009 0.0019 0.0001 0 0 0.0009 0.0027 0.0015 0.0005 0.0007 0.0012 0 0 0 0.0010 0.0020 . . 0.020 . 0.622 0.622000 . . . . . 1.0E-255 0.255 0.247 . 0.114 0.001 . 0.279 . 0.162 0.622 0.048 0.01 . . rs141166290 rs141166290 1 1538 10 1/0 0,253,255 +. 7 100550031 A ATCC - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 insertion in-frame exon GRCh37 100550031 100550032 Chr7(GRCh37):g.100550031_100550032insTCC 612 613 XM_001725354.6:c.612_613insTCC p.Thr204_Pro205insSer p.Thr204_Pro205insSer 2 158371 551 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 Cryptic Acceptor Strongly Activated 100550048 4.06116 0.262539 80.0287 5.37544 0.368009 80.0287 TCC 255 Pass . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.612_613insTCC:p.T204delinsTS . MUC3A:NM_005960:exon2:c.612_613insTCC:p.T204delinsTS . . 0.1724138 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 232 . . CODON_INSERTION(MODERATE||-/TCC|-205S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion . nonframeshift_insertion . . . exonic upstream exonic . . . . . . . . . . ENSG00000228273 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,76 +. 7 100550032 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550032 100550032 Chr7(GRCh37):g.100550032C>T 613 613 XM_001725354.6:c.613C>T p.Pro205Ser p.Pro205Ser 2 158371 552 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs971928735 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.161 0.932 P Pro CCC 0.328 S Ser TCC 0.220 205 10 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Not scored 0.0 0.0 214 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.C613T:p.P205S . MUC3A:NM_005960:exon2:c.C613T:p.P205S . . 0.19480519 . . . 45 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.159 . . . . . . . 1 0.126 . . 231.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P205S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -1.0386 -1.143 -1.039 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV . . . exonic upstream exonic . . 0.155 . . . . . . . ENSG00000228273 . MUC3A . . . 0.999 0.382 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.151 . . 0.381 . . . 0.094 . . . . . 0 1 0 0 0 0 0 1 0 0 0 0.574 . . 0 0 0 0 . 0 . . . . . . . . . . . 0 0.912 . . . . . 0.245 . 0.175 . HET 0.26 . . . . . . . . . . . . . 7.1273 . ENST00000379458 I.44 0.402 . 0.920000 . . . . . . 0.119 . . . . . . . . . . . . . . . . . . . . . . 0.348 . 0.110 0.110000 . . 0.920000 . . 1.0E-214 0.000 0.063 . 0.062 0.007 . 0.006 . 0.130 0.110 0.545 . . . . . 1 1538 10 1/0 0,199,255 +rs796078842 7 100550188 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550188 100550188 Chr7(GRCh37):g.100550188T>C 769 769 XM_001725354.6:c.769T>C p.Ser257Pro p.Ser257Pro 2 158371 708 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796078842 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.651 S Ser TCC 0.220 P Pro CCC 0.328 257 10 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Not scored 0.0 0.0 116 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.T769C:p.S257P . MUC3A:NM_005960:exon2:c.T769C:p.S257P . . 0.107913665 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.020 . . 139.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S257P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -1.5960 -1.789 -1.596 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV . . . exonic upstream exonic . . 0.033 @ . . . . . . ENSG00000228273 . MUC3A . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.107 . . 0.189 . . . 0.112 . . . . . 0 1 0 0 0 0 0 1 0 0 0 0.040 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.214 . . . . . 0.005 . 0.036 . LowAF 0.37 . . . . . . . . . . . . . 0.4736 . ENST00000379458 II.21 -4.42 . 0.310000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.216 . -1.646 -1.646000 . . 0.310000 . . 1.0E-116 0.000 0.063 . 0.016 0.001 . 0.005 . 0.048 -1.646 -0.058 . . . . . 1 1538 10 1/0 0,216,255 +rs75475749 7 100550206 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550206 100550206 Chr7(GRCh37):g.100550206A>G 787 787 XM_001725354.6:c.787A>G p.Ile263Val p.Ile263Val 2 158371 726 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 New Acceptor Site 100550207 5.93402 0.566269 80.535 rs75475749 yes no Frequency 1 A 0.000000 0 0.000017 0.000072 0.000000 0.000000 0.000000 0.000033 0.000018 0.000000 0.000000 0.000072 4 1 0 0 0 1 2 0 0 234018 13982 33446 9920 16936 30514 111238 12552 5430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.086 I Ile ATC 0.481 V Val GTC 0.240 263 10 1 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.A787G:p.I263V . MUC3A:NM_005960:exon2:c.A787G:p.I263V . . 0.10559006 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.060 . . 161.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I263V|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -1.3260 -1.520 -1.326 c . . . . . 1.658e-05 . . . 0 2.43e-05 0 0 0 2.704e-05 0 6.17e-05 0 9.88e-06 0 0 0 0 0 6.202e-05 nonsynonymous_SNV . nonsynonymous_SNV . . . exonic upstream exonic . . 0.036 @ . . . 0.39 0.2 182 ENSG00000228273 . MUC3A . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.130 . . 0.324 . . . 0.024 . . . . . 0 0 0 0 0 0 0 1 0 0 0 0.125 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.260 . . . . . 0.007 . 0.141 . LowAF 0.96 rs75475749 . . . . . . . . . . . . 0.5762 . ENST00000379458 2.I -4.19 . 0.940000 . . . . . . 0.028 . . . 0 1.321e-05 0 0 0 0 1.905e-05 0 3.277e-05 0.0075 0.0001 0 0 0 0 0 0 . . 0.409 . -1.191 -1.191000 . . 0.940000 . . 1.0E-176 0.000 0.063 . 0.016 0.004 . 0.025 . 0.075 -1.191 0.074 . . . rs75475749 rs75475749 1 1538 10 1/0 0,206,255 +rs76954633 7 100550212 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550212 100550212 Chr7(GRCh37):g.100550212T>C 793 793 XM_001725354.6:c.793T>C p.Ser265Pro p.Ser265Pro 2 158371 732 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs76954633 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 -0.924 S Ser TCC 0.220 P Pro CCC 0.328 265 10 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Not scored 0.0 0.0 192 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.T793C:p.S265P . MUC3A:NM_005960:exon2:c.T793C:p.S265P . . 0.1402439 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.071 . . 164.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S265P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -1.0898 -1.275 -1.090 c . . . . . 3.240e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV . . . exonic upstream exonic . . 0.048 @ . . . 0.4 0.24 182 ENSG00000228273 . MUC3A . . . 1.000 0.418 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.112 . . 0.219 . . . 0.112 . . . . . 0 0 0 0 0 0 0 1 0 0 0 0.092 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.259 . . . . . 0.008 . 0.058 . LowAF 0.21 rs76954633 . . . . . . . . . . . . 0.6931 . ENST00000379458 2.I -3.23 . 0.290000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.874 -0.874000 . . 0.290000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.000 . 0.013 . 0.339 -0.874 -1.234 . . . rs76954633 rs76954633 1 1538 10 1/0 0,208,255 +rs77045782 7 100550217 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550217 100550217 Chr7(GRCh37):g.100550217A>C 798 798 XM_001725354.6:c.798A>C p.Thr266= p.Thr266Thr 2 158371 737 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 Cryptic Acceptor Strongly Activated 100550225 1.66914 0.004268 71.8983 3.0042 0.078858 75.2681 rs77045782 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6862 128 66 258 8 0 6252 2 148 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1181 Genomes transversion A C A>C 0.000 -1.005 T Thr ACA 0.280 T Thr ACC 0.361 266 164 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.A798C:p.T266T . MUC3A:NM_005960:exon2:c.A798C:p.T266T . . 0.11042945 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 163.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acC|T266|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3242 . . . . . . . . 8.295e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV . synonymous_SNV . . . exonic upstream exonic . . . @ . . . 0.4 0.18 182 ENSG00000228273 . MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77045782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-164 . . . . . . . . . . . . . . rs77045782 rs77045782 1 1538 10 1/0 0,207,255 +rs796345426 7 100550582 T G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550582 100550582 Chr7(GRCh37):g.100550582T>G 1163 1163 XM_001725354.6:c.1163T>G p.Val388Gly p.Val388Gly 2 158371 1102 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796345426 no no 0 T 0.000000 0 0.004475 0.040000 0.000000 0.000000 0.062500 0.000000 0.002641 0.166667 0.007042 0.166667 30 6 0 0 1 0 16 6 1 6704 150 60 242 16 0 6058 36 142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 6 0 0 1 0 16 6 1 0 0 0 0 0 0 0 0 0 RF 815 Genomes transversion T G T>G 0.000 -0.440 V Val GTA 0.114 G Gly GGA 0.246 388 10 1 -3 -3 -6 0 0.74 5.IX 9 84 3 109 C0 353.86 0.00 Not scored 0.0 0.0 194 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1163G:p.V388G . . 0.14444445 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.053 . . 180.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTa/gGa|V388G|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.2673 -0.185 -0.267 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.053 @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.085 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.021 . . . . . . . . . . . . 0.04 0.0045 0 0 0.0625 0.1667 0.0026 0.0070 . . 0.023 . . . . . . . . 1.0E-194 0.000 0.063 . 0.043 0.004 . 0.032 . 0.322 . 0.486 . . . . . 1 1538 10 1/0 0,205,255 +rs796728880 7 100550585 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550585 100550585 Chr7(GRCh37):g.100550585C>A 1166 1166 XM_001725354.6:c.1166C>A p.Thr389Asn p.Thr389Asn 2 158371 1105 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796728880 no no 0 C 0.000000 0 0.002901 0.005401 0.000000 0.000000 0.005000 0.000000 0.001888 0.018750 0.000000 0.018750 27 7 0 0 1 0 13 6 0 9306 1296 144 242 200 0 6884 320 220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 7 0 0 1 0 13 6 0 0 0 0 0 0 0 0 0 0 RF 512 Genomes transversion C A C>A 0.000 0.286 T Thr ACC 0.361 N Asn AAC 0.536 389 10 1 0 0 0 0.71 I.33 8.VI 11.VI 61 56 65 C0 353.86 0.00 Not scored 0.0 0.0 205 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1166A:p.T389N . . 0.14754099 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.058 . . 183.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T389N|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3546 -0.188 -0.355 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.118 @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.324 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.079 . . . . . . . . . . . . 0.0054 0.0029 0 0 0.005 0.0187 0.0019 0 . . 0.023 . . . . . . . . 1.0E-205 0.000 0.063 . 0.016 0.003 . 0.238 . 0.011 . -0.786 . . . . . 1 1538 10 1/0 0,221,255 +rs796126882 7 100550635 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550635 100550635 Chr7(GRCh37):g.100550635A>G 1216 1216 XM_001725354.6:c.1216A>G p.Thr406Ala p.Thr406Ala 2 158371 1155 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 New Acceptor Site 100550636 3.45917 0.438352 83.9577 rs796126882 no no 0 A 0.000000 0 0.000137 0.000000 0.000000 0.000000 0.009091 0.000000 0.000000 0.000000 0.000000 0.009091 1 0 0 0 1 0 0 0 0 7324 580 144 214 110 0 5582 502 192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 662 Genomes transition A G A>G 0.000 -2.135 T Thr ACC 0.361 A Ala GCC 0.403 406 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 207 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1216G:p.T406A . . 0.17605634 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.014 . . 142.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T406A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.6489 -0.196 -0.649 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.053 @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.139 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.028 . . . . . . . . . . . . 0 0.0001 0 0 0.0091 0 0 0 . . 0.025 . . . . . . . . 1.0E-207 0.000 0.063 . 0.016 0.000 . 0.009 . 0.003 . -0.568 . . . . . 1 1538 10 1/0 0,218,255 +rs73163754 7 100550641 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550641 100550641 Chr7(GRCh37):g.100550641T>C 1222 1222 XM_001725354.6:c.1222T>C p.Tyr408His p.Tyr408His 2 158371 1161 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs73163754 yes no Frequency/1000G 2 T 0.000000 0 0.002831 0.004786 0.002976 0.000000 0.008178 0.000000 0.001374 0.002825 0.000000 0.008178 43 21 1 0 7 0 11 3 0 15188 4388 336 144 856 0 8008 1062 394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 21 1 0 7 0 11 3 0 0 0 0 0 0 0 0 0 0 RF 226 Genomes transition T C T>C 0.000 -1.570 Y Tyr TAC 0.562 H His CAC 0.587 408 10 1 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Not scored 0.0 0.0 229 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1222C:p.Y408H . . 0.23880596 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.065 . @ . . . . . 1 0.018 . . 134.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y408H|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.6567 -0.200 -0.657 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.053 @ . . . 0.56 0.49 182 ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.019 . . . HET . rs73163754 . . . . . . . . . . . . . . . . . . . . . . . . . 0.016 . . . . . . . . . . . . 0.0048 0.0028 0.0030 0 0.0082 0.0028 0.0014 0 . . 0.025 . . . . . . . . 1.0E-229 0.000 0.063 . 0.016 0.001 . 0.065 . 0.009 . -0.679 . . rs73163754 rs73163754 rs73163754 1 1538 10 1/0 0,227,255 +rs571754040 7 100550675 T A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550675 100550675 Chr7(GRCh37):g.100550675T>A 1256 1256 XM_001725354.6:c.1256T>A p.Phe419Tyr p.Phe419Tyr 2 158371 1195 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs571754040 yes no Frequency/1000G 2 T 0.389177 A 1949 0.389177 0.339600 0.363000 0.458300 0.417500 0.379000 transversion T A T>A 0.016 1.255 F Phe TTC 0.546 Y Tyr TAC 0.562 419 10 1 3 3 4 0 0.2 5.II 6.II 132 136 22 C0 353.86 0.00 Not scored 0.0 0.0 193 PASS . . . . . 0.34 0.39 0.38 0.46 0.42 0.36 . . MUC3A:NM_005960:exon2:c.T1256A:p.F419Y . . 0.14285715 . . @ 7 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.165 . @ . . . . . 1 0.059 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tAc|F419Y|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0405 -0.024 -0.041 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.221 0.3892 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.500 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.066 . . . LowAF . rs571754040 . . . . . . . . . . . . . . . . . . . . . . . . . 0.094 . . . . . . . . . . . . . . . . . . . . . . 0.032 . . . . . . . . 1.0E-193 0.000 0.063 . 0.016 0.001 . 0.060 . 0.110 . 0.899 . . . . . 1 1538 10 1/0 0,255,255 +rs547793267 7 100550680 T A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550680 100550680 Chr7(GRCh37):g.100550680T>A 1261 1261 XM_001725354.6:c.1261T>A p.Ser421Thr p.Ser421Thr 2 158371 1200 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs547793267 yes no Frequency/1000G 2 T 0.000000 0 0.389177 0.339600 0.363000 0.458300 0.417500 0.379000 transversion T A T>A 0.000 -0.602 S Ser TCT 0.185 T Thr ACT 0.243 421 10 1 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . 0.34 0.39 0.38 0.46 0.42 0.36 . . MUC3A:NM_005960:exon2:c.T1261A:p.S421T . . 0.11320755 . . @ 6 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.141 . @ . . . . . 1 0.048 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S421T|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.2687 -0.045 -0.269 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.051 0.3892 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.500 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.051 . . . LowAF . rs547793267 . . . . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.032 . . . . . . . . 1.0E-179 0.000 0.063 . 0.016 0.001 . 0.014 . 0.033 . -0.953 . . . . . 1 1538 10 1/0 0,254,255 +rs565902709 7 100550682 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550682 100550682 Chr7(GRCh37):g.100550682T>C 1263 1263 XM_001725354.6:c.1263T>C p.Ser421= p.Ser421Ser 2 158371 1202 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs565902709 yes no Frequency/1000G 2 T 0.000000 0 0.389177 0.339600 0.363000 0.458300 0.417500 0.379000 0.000149 0.000000 0.000000 0.000000 0.000000 0.000000 0.000381 0.000000 0.000000 0.000381 2 0 0 0 0 0 2 0 0 13378 4690 396 40 646 0 5252 1882 472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 483 Genomes transition T C T>C 0.000 0.044 S Ser TCT 0.185 S Ser TCC 0.220 421 187 PASS . . . . . 0.34 0.39 0.38 0.46 0.42 0.36 . . MUC3A:NM_005960:exon2:c.T1263C:p.S421S . . 0.12962963 . . @ 7 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S421|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream upstream exonic . . . 0.3892 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs565902709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs555730126 7 100550689 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550689 100550689 Chr7(GRCh37):g.100550689A>G 1270 1270 XM_001725354.6:c.1270A>G p.Thr424Ala p.Thr424Ala 2 158371 1209 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs555730126 yes no Frequency/1000G 2 A 0.000000 0 0.001406 0.000000 0.000000 0.000000 0.500000 0.000000 0.000828 0.000000 0.000000 0.500000 2 0 0 0 1 0 1 0 0 1422 20 44 74 2 0 1208 0 74 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 4665 Genomes transition A G A>G 0.000 -1.489 T Thr ACC 0.361 A Ala GCC 0.403 424 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 230 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1270G:p.T424A . . 0.24561404 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.090 . @ . . . . . 1 0.044 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T424A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4315 -0.063 -0.432 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.037 0.0006 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.094 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.047 . . . . . . . . . . . . 0 0.0014 0 0 0.5 . 0.0008 0 . . 0.024 . . . . . . . . 1.0E-230 0.000 0.063 . 0.016 0.001 . 0.018 . 0.000 . -0.015 . . . . . 1 1538 10 1/0 0,255,255 +. 7 100550691 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550691 100550691 Chr7(GRCh37):g.100550691C>A 1272 1272 XM_001725354.6:c.1272C>A p.Thr424= p.Thr424Thr 2 158371 1211 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs998384837 no no 0 C 0.000000 0 0.001414 0.000000 0.000000 0.000000 0.500000 0.000000 0.000836 0.000000 0.000000 0.500000 2 0 0 0 1 0 1 0 0 1414 18 44 78 2 0 1196 2 74 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 5340 Genomes transversion C A C>A 0.000 0.770 T Thr ACC 0.361 T Thr ACA 0.280 424 179 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1272A:p.T424T . . 0.11111111 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acA|T424|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream upstream exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0014 0 0 0.5 0 0.0008 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 100550693 C G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550693 100550693 Chr7(GRCh37):g.100550693C>G 1274 1274 XM_001725354.6:c.1274C>G p.Thr425Ser p.Thr425Ser 2 158371 1213 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 New Acceptor Site 100550694 5.80466 0.02344 78.2356 rs1029444976 no no 0 C 0.000000 0 transversion C G C>G 0.000 1.416 T Thr ACT 0.243 S Ser AGT 0.149 425 10 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1274G:p.T425S . . 0.10526316 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.126 . @ . . . . . 1 0.010 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aGt|T425S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.0594 0.012 0.059 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.256 @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.413 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.094 . . 2.III . . . . . . . . . . . . . . . . . . . 0.024 . . . . . . . . 1.0E-176 0.004 0.165 . 0.016 0.007 . 0.294 . 0.025 . 0.791 . . . . . 1 1538 10 1/0 0,251,255 +rs141925032 7 100550704 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550704 100550704 Chr7(GRCh37):g.100550704C>A 1285 1285 XM_001725354.6:c.1285C>A p.Pro429Thr p.Pro429Thr 2 158371 1224 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs141925032 no no 0 0.000000 0 transversion C A C>A 0.000 -1.086 P Pro CCC 0.328 T Thr ACC 0.361 429 10 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Not scored 0.0 0.0 202 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1285A:p.P429T . . 0.16666667 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.024 . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P429T|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.6889 -0.084 -0.689 n . . . . . . . . . . . . . . . . . 0 0.0556 0 . 0.25 0 . 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.077 @ . . . 0.49 0.38 182 ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.139 . . . HET . rs141925032 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . 1.0E-202 0.000 0.063 . 0.016 0.000 . 0.013 . 0.000 . -3.293 . . . rs141925032 rs141925032 1 1538 10 1/0 0,255,255 +rs76608602 7 100550744 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550744 100550744 Chr7(GRCh37):g.100550744A>C 1325 1325 XM_001725354.6:c.1325A>C p.Asn442Thr p.Asn442Thr 2 158371 1264 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs76608602 yes no Frequency 1 0.000000 0 transversion A C A>C 0.000 -0.279 N Asn AAT 0.464 T Thr ACT 0.243 442 10 1 0 0 0 I.33 0.71 11.VI 8.VI 56 61 65 C0 353.86 0.00 Not scored 0.0 0.0 153 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1325C:p.N442T . . 0.37777779 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.107 . @ . . . . . 1 0.011 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N442T|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4499 -0.057 -0.450 n . . . . . 2.676e-04 . . . 0 0.0005 0.0005 0 0 0.0009 0 0 0 0.0005 0.0006 0 0.0003 0.0007 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.184 @ . . . 0.46 0.39 182 ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.116 . . . HET . rs76608602 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.024 . . . . . . . . 1.0E-153 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 . -1.114 . . . rs76608602 rs76608602 1 1538 10 1/0 0,255,255 +rs74474011 7 100550745 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550745 100550745 Chr7(GRCh37):g.100550745T>C 1326 1326 XM_001725354.6:c.1326T>C p.Asn442= p.Asn442Asn 2 158371 1265 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs74474011 yes no Frequency/1000G 2 0.000000 0 0.473243 0.497000 0.462200 0.403800 0.506000 0.497100 transition T C T>C 0.000 -2.054 N Asn AAT 0.464 N Asn AAC 0.536 442 255 PASS . . . . . 0.5 0.47 0.5 0.4 0.51 0.46 . . MUC3A:NM_005960:exon2:c.T1326C:p.N442N . . 0.5869565 . . @ 27 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N442|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5176 . . . . . . . . 7.933e-05 . . . 0 0 0 0 0 0 0 0 0 2.512e-05 0 0 0 4.317e-05 0 0 . . synonymous_SNV . . . upstream\x3bdownstream upstream exonic . . . 0.4732 . . . 0.45 0.43 182 ENSG00000169894\x3bENSG00000228273 . MUC3A . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74474011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74474011 rs74474011 1 1538 10 1/0 0,255,255 +rs532654719 7 100550749 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550749 100550749 Chr7(GRCh37):g.100550749A>G 1330 1330 XM_001725354.6:c.1330A>G p.Lys444Glu p.Lys444Glu 2 158371 1269 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 Cryptic Acceptor Strongly Activated 100550766 1.18393 0.008017 71.2148 1.33356 0.011212 71.2148 rs532654719 yes no Frequency/1000G 2 0.000000 0 0.271166 0.377500 0.286300 0.276800 0.190900 0.155600 transition A G A>G 0.000 -0.198 K Lys AAG 0.575 E Glu GAG 0.583 444 10 1 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Not scored 0.0 0.0 189 PASS . . . . . 0.38 0.27 0.16 0.28 0.19 0.29 . . MUC3A:NM_005960:exon2:c.A1330G:p.K444E . . 0.1322314 . . @ 16 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.122 . @ . . . . . 1 0.011 . . 121.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K444E|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4295 -0.053 -0.429 n . . . . . 8.666e-06 . . . . . . . . . . . 0 1.794e-05 0 0 0 3.178e-05 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.112 0.2712 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.517 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.162 . . . LowAF . rs532654719 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.024 . . . . . . . . 1.0E-189 0.000 0.063 . 0.016 0.000 . 0.010 . 0.004 . -2.159 . . . . . 1 1538 10 1/0 0,221,255 +rs28654698 7 100550766 A T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550766 100550766 Chr7(GRCh37):g.100550766A>T 1347 1347 XM_001725354.6:c.1347A>T p.Arg449Ser p.Arg449Ser 2 158371 1286 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs28654698 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.000181 0.000486 0.000245 0.000000 0.000000 0.000000 0.000204 0.000260 0.000000 0.000486 19 3 3 0 0 0 11 2 0 104944 6176 12232 3902 6188 12796 53856 7696 2098 0.210526 0.000000 0.333333 0.000000 0.000000 0.000000 0.181818 0.500000 0.000000 4 0 1 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 117 Exomes transversion A T A>T 0.000 -2.377 R Arg AGA 0.205 S Ser AGT 0.149 449 10 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . 1. 1. 1. 1. 1. 1. . . MUC3A:NM_005960:exon2:c.A1347T:p.R449S . . 0.832 . . @ 208 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 250.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R449S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5919 . . . . . . . . 1.653e-04 . . . 0 1.956e-05 0 0 0 4.178e-05 0 0 0 9.297e-05 0 0 0.0002 0.0001 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . 0.0000 . . . 0.51 0.44 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs28654698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0.0002 0 0 0.0003 0.0002 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28654698 rs28654698 rs28654698 rs28654698 1 1538 10 1/0 0,218,217 +rs28530520 7 100550787 G A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550787 100550787 Chr7(GRCh37):g.100550787G>A 1368 1368 XM_001725354.6:c.1368G>A p.Leu456= p.Leu456Leu 2 158371 1307 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs28530520 yes no Frequency/1000G 2 G 0.000000 0 0.763179 0.703500 0.759700 0.823400 0.753500 0.808400 transition G A G>A 0.000 -0.521 L Leu TTG 0.127 L Leu TTA 0.073 456 165 PASS . . . . . 0.7 0.76 0.81 0.82 0.75 0.76 . . MUC3A:NM_005960:exon2:c.G1368A:p.L456L . . 0.1825963 . . @ 128 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 701.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L456|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4767 . . . . . . . . 8.924e-04 . . . 0 1.869e-05 0 0.0004 0 0 0 0 0 0 0 0 0 0 0 0 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . 0.2368 . . . 0.45 0.33 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28530520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-165 . . . . . . . . . . . . rs28530520 rs28530520 rs28530520 rs28530520 1 1538 14 1/0 0,152,224 +rs80228227 7 100550791 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550791 100550791 Chr7(GRCh37):g.100550791A>G 1372 1372 XM_001725354.6:c.1372A>G p.Thr458Ala p.Thr458Ala 2 158371 1311 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs80228227 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.000 0.286 T Thr ACC 0.361 A Ala GCC 0.403 458 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 150 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1372G:p.T458A . . 0.12833545 . . @ 101 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.109 . @ . . . . . 1 0.018 . . 787.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T458A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.2512 -0.005 -0.251 n . . . . . 8.626e-06 . . . 0 1.278e-05 0 0 0 0 0 6.495e-05 0 1.018e-05 0 0 0 0 0 6.525e-05 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.167 @ . . . 0.45 0.37 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.046 . . . LowAF . rs80228227 . . . . . . . . . . . . . . . . . . . . . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . 1.0E-150 0.000 0.063 . 0.016 0.068 . 0.013 . 0.040 . 0.514 . . . rs80228227 rs80228227 1 1538 13 1/0 0,141,236 +rs28420633 7 100550800 G A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550800 100550800 Chr7(GRCh37):g.100550800G>A 1381 1381 XM_001725354.6:c.1381G>A p.Glu461Lys p.Glu461Lys 2 158371 1320 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs28420633 yes no Frequency 1 G 0.000000 0 0.006872 0.000000 0.053030 0.038462 0.176471 0.001408 0.030769 0.000000 0.000000 0.176471 25 0 7 2 6 2 8 0 0 3638 1670 132 52 34 1420 260 32 38 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 7 2 6 2 8 0 0 0 0 0 0 0 0 0 0 0 PASS 11405 Exomes transition G A G>A 0.000 -1.812 E Glu GAG 0.583 K Lys AAG 0.575 461 10 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 189 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.G1381A:p.E461K . . 0.1315508 . . @ 123 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.063 . . 935.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E461K|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5951 -0.056 -0.595 n . . . . . 1.167e-03 . . . 0 8.093e-05 0 0.0017 0 9.61e-05 0 0 0 0 0 0 0 0 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.041 @ . . . 0.42 0.34 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.017 . . . LowAF . rs28420633 . . . . . . . . . . . . . . . . . . . . . . . . . 0.021 . . . 0 0.0069 0.0530 0.0385 0.1765 0 0.0308 0 0.0014 . . . . . . . . . . 0.051 . . . . . . . . 1.0E-189 0.000 0.063 . 0.016 0.005 . 0.026 . 0.005 . 0.450 . rs28420633 rs28420633 rs28420633 rs28420633 1 1538 10 1/0 0,133,241 +rs571803055 7 100550806 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550806 100550806 Chr7(GRCh37):g.100550806A>C 1387 1387 XM_001725354.6:c.1387A>C p.Thr463Pro p.Thr463Pro 2 158371 1326 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 Cryptic Acceptor Strongly Activated 100550817 0.000267 68.8814 0.48716 0.001657 71.1662 rs571803055 yes no Frequency/1000G 2 A 0.327276 C 1639 0.327276 0.304800 0.257700 0.385900 0.359800 0.335700 0.000337 0.000406 0.000630 0.000000 0.000907 0.000326 0.000238 0.000100 0.000981 0.000907 48 3 11 0 7 6 17 1 3 142450 7396 17450 7006 7718 18404 71456 9962 3058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 3 11 0 7 6 17 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.286 T Thr ACC 0.361 P Pro CCC 0.328 463 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 150 PASS . . . . . 0.3 0.33 0.34 0.39 0.36 0.26 . . MUC3A:NM_005960:exon2:c.A1387C:p.T463P . . 0.12815338 . . @ 127 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.131 . @ . . . . . 1 0.033 . . 991.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T463P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.1383 0.082 -0.138 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.113 0.3273 . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.517 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.200 . . . LowAF . rs571803055 . . . . . . . . . . . . . . . . . . . . . . . . . 0.040 . . . 0.0004 0.0003 0.0006 0 0.0008 0.0001 0.0002 0.0010 0.0003 0 0.0011 0 0 0.25 0 0.0008 0 . . 0.051 . . . . . . . . 1.0E-150 0.000 0.063 . 0.016 0.016 . 0.122 . 0.122 . -1.518 . . . . . 1 1538 13 1/0 0,131,231 +rs750477060 7 100550818 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550818 100550818 Chr7(GRCh37):g.100550818A>C 1399 1399 XM_001725354.6:c.1399A>C p.Thr467Pro p.Thr467Pro 2 158371 1338 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs750477060 no no 0 A 0.000000 0 transversion A C A>C 0.043 0.851 T Thr ACT 0.243 P Pro CCT 0.283 467 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 134 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1399C:p.T467P . . 0.12190651 . . @ 133 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.121 . @ . . . . . 1 0.055 . . 1091.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Cct|T467P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0687 0.096 -0.069 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.195 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.201 . . . LowAF . rs750477060 . . . . . . . . . . . . . . . . . . . . . . . . . 0.108 . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . 1.0E-134 0.000 0.063 . 0.043 0.008 . 0.092 . 0.086 . 0.158 . . . . . 1 1538 13 1/0 0,127,239 +rs753077364 7 100550842 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550842 100550842 Chr7(GRCh37):g.100550842A>G 1423 1423 XM_001725354.6:c.1423A>G p.Thr475Ala p.Thr475Ala 2 158371 1362 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs753077364 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 189430 10620 29270 8354 15898 28914 82446 9464 4464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 281 Exomes transition A G A>G 0.000 -1.812 T Thr ACC 0.361 A Ala GCC 0.403 475 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 139 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1423G:p.T475A . . 0.14131501 . . @ 144 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.005 . . 1019.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T475A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.7693 0.039 -0.769 n . . . . . 1.009e-04 . . . 0.0003 7.753e-05 0 0 0 0.0001 0 0 0.0001 6.242e-05 0 0 0 0.0001 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.041 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.110 . . . LowAF . rs753077364 . . . . . . . . . . . . . . . . . . . . . . . . . 0.022 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.051 . . . . . . . . 1.0E-139 0.000 0.063 . 0.016 0.010 . 0.079 . 0.123 . 0.514 . . . . . 1 1538 13 1/0 0,133,234 +rs766383810 7 100550893 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550893 100550893 Chr7(GRCh37):g.100550893A>G 1474 1474 XM_001725354.6:c.1474A>G p.Thr492Ala p.Thr492Ala 2 158371 1413 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs766383810 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223542 13694 33128 9516 16882 30464 102118 12536 5204 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 176 Exomes transition A G A>G 0.000 -0.198 T Thr ACC 0.361 A Ala GCC 0.403 492 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 101 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1474G:p.T492A . . 0.11463845 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.008 . . 567.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T492A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.2705 0.055 -0.270 n . . . . . 3.682e-04 . . . 0.0001 0.0004 0 0 0.0003 0.0005 0 0.0006 0.0001 0.0004 0 0.0001 0.0003 0.0005 0 0.0006 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.081 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.165 . . . LowAF . rs766383810 . . . . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.051 . . . . . . . . 1.0E-101 0.000 0.063 . 0.016 0.012 . 0.087 . 0.005 . 0.514 . . . . . 1 1538 14 1/0 0,158,255 +rs113663819 7 100550901 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550901 100550901 Chr7(GRCh37):g.100550901C>T 1482 1482 XM_001725354.6:c.1482C>T p.Thr494= p.Thr494Thr 2 158371 1421 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs113663819 yes no Frequency/1000G 2 0.000000 0 0.007388 0.009100 0.004100 0.004000 0.008900 0.011500 0.000211 0.000568 0.000727 0.000000 0.000409 0.000082 0.000070 0.000087 0.000516 0.000727 37 5 17 0 4 2 6 1 2 175672 8802 23396 8280 9778 24464 85598 11480 3874 0.000011 0.000000 0.000000 0.000000 0.000000 0.000082 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 35 5 17 0 4 0 6 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.732 T Thr ACC 0.361 T Thr ACT 0.243 494 103 PASS . . . . . 0.0091 0.0074 0.011 0.004 0.0089 0.0041 . . MUC3A:NM_005960:exon2:c.C1482T:p.T494T . . 0.17659138 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 487.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T494|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5060 . . . . . . . . . . . . 0.0012 0.0004 0.0006 0 0 0.0004 0.0017 0.0003 0.0012 0.0004 0.0007 0.0001 0 0.0003 0.0016 0.0003 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . 0.0074 . . . 0.45 0.41 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113663819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0.0007 0 0.0002 0 0 0.0003 8.175e-05 0.0065 0.0024 0.0135 0 0.0294 0.0172 0.0013 0.0079 . . . . . . . . . . . 1.0E-103 . . . . . . . . . . . . . . rs113663819 rs113663819 1 1538 14 1/0 0,175,250 +rs554159556 7 100550902 G A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550902 100550902 Chr7(GRCh37):g.100550902G>A 1483 1483 XM_001725354.6:c.1483G>A p.Glu495Lys p.Glu495Lys 2 158371 1422 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs554159556 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.001500 0.000000 0.000000 0.000000 0.001400 0.000069 0.000994 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000219 0.000994 14 12 0 0 0 0 1 0 1 203606 12070 27182 9172 14358 27904 96424 11932 4564 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 12 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.570 E Glu GAG 0.583 K Lys AAG 0.575 495 10 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 183 PASS . . . . . 0.0015 0.0006 0.0014 . . . . . MUC3A:NM_005960:exon2:c.G1483A:p.E495K . . 0.11890838 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.073 . @ . . . . . 1 0.107 . . 513.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E495K|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5543 0.005 -0.554 n . . . . . 5.167e-05 . . . 0.0007 7.724e-05 9.112e-05 0 0 0 0 0 0.0006 5.191e-05 9.302e-05 0 0 0 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.041 0.0006 . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.094 . . . LowAF . rs554159556 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0.0009 6.111e-05 0 0 0 0 0 0.0002 0 0.0030 0.0003 0 0 0 0 0.0002 0 . . 0.051 . . . . . . . . 1.0E-183 0.000 0.063 . 0.016 0.003 . 0.005 . 0.001 . 0.450 . . . . . 1 1538 10 1/0 0,157,255 +rs771820781 7 100550908 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550908 100550908 Chr7(GRCh37):g.100550908A>C 1489 1489 XM_001725354.6:c.1489A>C p.Thr497Pro p.Thr497Pro 2 158371 1428 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs771820781 yes no Frequency 1 A 0.000000 0 0.004356 0.069767 0.016129 0.000000 0.125000 0.000000 0.002072 0.083333 0.006757 0.125000 28 12 1 0 1 0 12 1 1 6428 172 62 234 8 0 5792 12 148 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 12 1 0 1 0 12 1 1 0 0 0 0 0 0 0 0 0 PASS 4665 Genomes transversion A C A>C 0.000 0.448 T Thr ACC 0.361 P Pro CCC 0.328 497 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 147 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1489C:p.T497P . . 0.1119403 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.108 . @ . . . . . 1 0.013 . . 402.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T497P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.1973 0.061 -0.197 n . . . . . 2.826e-04 . . . 0.0003 0.0003 0.0003 0 0 0.0004 0 0.0001 0.0003 0.0003 0.0002 0.0001 0.0002 0.0004 0 0.0001 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.167 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.158 . . . LowAF . rs771820781 . . . . . . . . . . . . . . . . . . . . . . . . . 0.072 . . . . . . . . . . . . 0.0698 0.0044 0.0161 0 0.125 0.0833 0.0021 0.0068 . . 0.051 . . . . . . . . 1.0E-147 0.000 0.063 . 0.016 0.002 . 0.049 . 0.001 . -1.431 . . . . . 1 1538 10 1/0 0,169,255 +rs773457827 7 100550913 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550913 100550913 Chr7(GRCh37):g.100550913A>C 1494 1494 XM_001725354.6:c.1494A>C p.Ser498= p.Ser498Ser 2 158371 1433 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs773457827 yes no Frequency 1 A 0.000000 0 0.002633 0.018182 0.000000 0.000000 0.200000 0.000000 0.001729 0.166667 0.009091 0.200000 15 2 0 0 2 0 9 1 1 5698 110 42 214 10 0 5206 6 110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 2 0 0 2 0 9 1 1 0 0 0 0 0 0 0 0 0 RF 4883 Genomes transversion A C A>C 0.000 -0.844 S Ser TCA 0.148 S Ser TCC 0.220 498 182 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1494C:p.S498S . . 0.11494253 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 348.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcC|S498|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3214 . . . . . . . . 1.458e-04 . . . 0.0001 0.0002 0 0 0 0.0002 0 0.0002 0.0001 0.0001 0 0 0 0.0002 0 0.0002 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs773457827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0182 0.0026 0 0 0.2 0.1667 0.0017 0.0091 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +rs796808745 7 100551032 T A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551032 100551032 Chr7(GRCh37):g.100551032T>A 1613 1613 XM_001725354.6:c.1613T>A p.Phe538Tyr p.Phe538Tyr 2 158371 1552 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796808745 no no 0 T 0.000000 0 0.000035 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 0.000073 1 0 0 0 0 0 1 0 0 28406 8050 778 292 1370 0 13708 3324 884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 694 Genomes transversion T A T>A 0.000 -0.844 F Phe TTC 0.546 Y Tyr TAC 0.562 538 10 1 3 3 4 0 0.2 5.II 6.II 132 136 22 C0 353.86 0.00 Not scored 0.0 0.0 175 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1613A:p.F538Y . . 0.10273973 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.085 . @ . . . . . 1 0.020 . . 292.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tAc|F538Y|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5683 -0.085 -0.568 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.094 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.021 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.013 . . . . . . . . . . . . 0 3.52e-05 0 0 0 0 7.295e-05 0 . . 0.051 . . . . . . . . 1.0E-175 0.000 0.063 . 0.016 0.002 . 0.001 . 0.006 . -0.400 . . . . . 1 1538 10 1/0 0,180,255 +rs796699917 7 100551039 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551039 100551039 Chr7(GRCh37):g.100551039T>C 1620 1620 XM_001725354.6:c.1620T>C p.Ser540= p.Ser540Ser 2 158371 1559 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796699917 no no 0 T 0.000000 0 0.000205 0.000000 0.000000 0.000000 0.000000 0.000000 0.000280 0.000000 0.000000 0.000280 2 0 0 0 0 0 2 0 0 9754 1328 142 262 126 0 7132 508 256 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 1847 Genomes transition T C T>C 0.000 0.205 S Ser TCT 0.185 S Ser TCC 0.220 540 187 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1620C:p.S540S . . 0.12676056 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 284.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S540|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.6148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs371082444 7 100551042 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551042 100551042 Chr7(GRCh37):g.100551042A>G 1623 1623 XM_001725354.6:c.1623A>G p.Ser541= p.Ser541Ser 2 158371 1562 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs371082444 no no 0 A 0.000000 0 0.000470 0.000000 0.016667 0.000000 0.000000 0.000000 0.000172 0.000000 0.007692 0.016667 3 0 1 0 0 0 1 0 1 6386 142 60 222 8 0 5814 10 130 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 2652 Genomes transition A G A>G 0.000 -0.521 S Ser TCA 0.148 S Ser TCG 0.056 541 148 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1623G:p.S541S . . 0.128 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 250.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S541|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.3996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs371082444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0167 0 0 0 0.0002 0.0077 . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . rs371082444 rs371082444 1 1538 15 1/0 0,191,255 +rs796152723 7 100551054 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551054 100551054 Chr7(GRCh37):g.100551054T>C 1635 1635 XM_001725354.6:c.1635T>C p.Thr545= p.Thr545Thr 2 158371 1574 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796152723 no no 0 C 0.000000 0 0.000312 0.000000 0.000000 0.000000 0.000000 0.000000 0.000343 0.000000 0.000000 0.000343 2 0 0 0 0 0 2 0 0 6410 130 62 240 8 0 5826 6 138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 2288 Genomes transition T C T>C 0.000 -1.489 T Thr ACT 0.243 T Thr ACC 0.361 545 130 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1635C:p.T545T . . 0.115384616 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 182.0 . . SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T545|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-130 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +rs569409437 7 100551061 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551061 100551061 Chr7(GRCh37):g.100551061C>A 1642 1642 XM_001725354.6:c.1642C>A p.Pro548Thr p.Pro548Thr 2 158371 1581 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs569409437 yes no Frequency/1000G 2 A 0.001198 A 6 0.001198 0.001500 0.003100 0.001000 0.000000 0.000000 0.000871 0.000216 0.000761 0.003243 0.000000 0.000805 0.000925 0.000000 0.002993 0.003243 199 3 25 31 0 24 100 0 16 228432 13898 32850 9560 16382 29830 108102 12464 5346 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 2 0 0 0 0 0 2 0 0 195 3 25 31 0 24 96 0 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -1.893 P Pro CCC 0.328 T Thr ACC 0.361 548 10 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Not scored 0.0 0.0 193 PASS . . . . . 0.0015 0.0012 . 0.001 . 0.0031 . . MUC3A:NM_005960:exon2:c.C1642A:p.P548T . . 0.14150943 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.108 . @ . . . . . 1 0.023 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P548T|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.0210 3.074 0.021 n . . . . . 9.577e-04 . . . 0 0.0012 0.0005 0.0016 0.0003 0.0016 0.0031 0.0013 0 0.0010 0.0005 0.0013 0.0002 0.0012 0 0.0013 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.050 0.0012 . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.015 . . . LowAF . rs569409437 . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 . . . 7.263e-05 0.0008 0.0007 0.0032 0 0 0.0009 0.0021 0.0008 0.0154 0.0031 0.0370 0.0051 0 0 0.0015 0.0329 . . 0.051 . . . . . . . . 1.0E-193 0.000 0.063 . 0.016 0.009 . 0.006 . 0.002 . -1.563 . . . . . 1 1538 10 1/0 0,227,255 +rs748220528 7 100551078 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551078 100551078 Chr7(GRCh37):g.100551078T>C 1659 1659 XM_001725354.6:c.1659T>C p.Pro553= p.Pro553Pro 2 158371 1598 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs748220528 yes no Frequency 1 C 0.000000 0 0.000223 0.000077 0.000136 0.000226 0.001036 0.000334 0.000117 0.000330 0.000424 0.001036 47 1 4 2 13 9 12 4 2 210404 13022 29514 8852 12552 26926 102688 12134 4716 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 1 4 2 13 9 12 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.037 P Pro CCT 0.283 P Pro CCC 0.328 553 185 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1659C:p.P553P . . 0.125 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 56.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P553|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0653 . . . . . . . . 5.711e-03 . . . 0.0006 0.0063 0.0019 0.0260 0.0032 0.0035 0.0126 0.0131 0.0007 0.0060 0.0018 0.0264 0.0030 0.0027 0.0134 0.0132 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs748220528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0.0002 0.0010 0.0002 9.222e-05 0.0004 0.0003 0.0086 0.0011 0 0 0.25 0.1667 0.0006 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs749410668 7 100551082 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551082 100551082 Chr7(GRCh37):g.100551082C>T 1663 1663 XM_001725354.6:c.1663C>T p.Leu555Phe p.Leu555Phe 2 158371 1602 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs749410668 yes no Frequency 1 T 0.000000 0 0.000193 0.000000 0.000127 0.000524 0.000791 0.000313 0.000074 0.000321 0.000391 0.000791 43 0 4 5 11 9 8 4 2 222760 13730 31618 9546 13902 28752 107632 12464 5116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 0 4 5 11 9 8 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -4.556 L Leu CTC 0.197 F Phe TTC 0.546 555 10 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Not scored 0.0 0.0 190 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1663T:p.L555F . . 0.13725491 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.020 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L555F|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3355 3.023 -0.336 n . . . . . 5.436e-03 . . . 0.0006 0.0060 0.0019 0.0249 0.0027 0.0032 0.0125 0.0122 0.0007 0.0056 0.0018 0.0250 0.0026 0.0025 0.0133 0.0122 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.057 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.042 . . . LowAF . rs749410668 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0 0.0002 0.0001 0.0005 0.0007 0.0002 6.875e-05 0.0004 0.0003 0 0.0005 0 0 0.1667 0.125 0.0002 0 . . 0.024 . . . . . . . . 1.0E-190 0.000 0.063 . 0.016 0.000 . 0.007 . 0.013 . -1.944 . . . . . 1 1538 10 1/0 0,255,255 +rs72494466 7 100551122 T G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551122 100551122 Chr7(GRCh37):g.100551122T>G 1703 1703 XM_001725354.6:c.1703T>G p.Ile568Ser p.Ile568Ser 2 158371 1642 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs72494466 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.004100 0.009900 0.000000 0.001400 0.000032 0.000073 0.000000 0.000000 0.000230 0.000000 0.000019 0.000080 0.000000 0.000230 7 1 0 0 3 0 2 1 0 220904 13702 31426 9514 13062 28612 107048 12440 5100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 3 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -3.669 I Ile ATT 0.356 S Ser AGT 0.149 568 10 1 -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 353.86 0.00 Not scored 0.0 0.0 244 PASS . . . . . . 0.003 0.0014 0.0099 . 0.0041 . . MUC3A:NM_005960:exon2:c.T1703G:p.I568S . . 0.29032257 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.071 . @ . . . . . 1 0.038 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aGt|I568S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3934 3.015 -0.393 n . . . . . 1.486e-03 . . . 0.0002 0.0015 0.0008 0.0093 0.0008 0.0007 0 0.0023 0.0003 0.0016 0.0006 0.0093 0.0011 0.0006 0.0029 0.0023 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.057 0.0030 . . . 0.47 0.35 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.106 . . . HET . rs72494466 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0 1.397e-05 0 0 0.0002 0 0 0 0 0.0076 0.0006 0 0 0 0.0833 0.0004 0 . . 0.024 . . . . . . . . 1.0000000000000001E-244 0.000 0.063 . 0.016 0.000 . 0.003 . 0.001 . -2.081 . . rs72494466 rs72494466 rs72494466 1 1538 10 1/0 0,255,255 +rs760549664 7 100551129 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551129 100551129 Chr7(GRCh37):g.100551129T>C 1710 1710 XM_001725354.6:c.1710T>C p.Pro570= p.Pro570Pro 2 158371 -1646 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 rs760549664 yes no Frequency 1 C 0.000000 0 0.000037 0.000000 0.000032 0.000106 0.000161 0.000071 0.000009 0.000080 0.000000 0.000161 8 0 1 1 2 2 1 1 0 218424 13550 31154 9402 12388 28258 106224 12430 5018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 1 1 2 2 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.360 P Pro CCT 0.283 P Pro CCC 0.328 570 205 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1710C:p.P570P . . 0.17460318 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P570|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0947 . . . . . . . . 6.249e-04 . . . 0 0.0006 0.0004 0.0031 0.0003 0.0003 0 0.0011 0 0.0006 0.0002 0.0033 0.0006 0.0002 0.0029 0.0011 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs760549664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.825e-05 3.216e-05 0.0001 0.0002 0 0 0 7.078e-05 0 0.0003 0 0 0 0.1667 0.0002 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs768640080 7 100551130 G A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551130 100551130 Chr7(GRCh37):g.100551130G>A 1711 1711 XM_001725354.6:c.1711G>A p.Gly571Ser p.Gly571Ser 2 158371 -1645 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 New Acceptor Site 100551132 3.78756 0.044952 69.766 rs768640080 yes no Frequency 1 C 0.000000 0 0.000051 0.000000 0.000033 0.000107 0.000170 0.000072 0.000038 0.000081 0.000000 0.000170 11 0 1 1 2 2 4 1 0 214358 13214 30258 9312 11752 27682 104874 12378 4888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 1 2 2 4 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.651 G Gly GGC 0.342 S Ser AGC 0.243 571 10 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 182 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.G1711A:p.G571S . . 0.11764706 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.079 . @ . . . . . 1 0.151 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G571S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3867 3.008 -0.387 n . . . . . 6.500e-04 . . . 0 0.0006 0.0004 0.0033 0.0003 0.0003 0 0.0011 0 0.0007 0.0002 0.0035 0.0006 0.0003 0.0029 0.0011 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.074 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.076 . . . LowAF . rs768640080 . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 . . . 0 3.36e-05 3.311e-05 0.0001 0.0002 0 1.006e-05 0 7.225e-05 0 0.0007 0 0 0 0.1667 0.0005 0 . . 0.024 . . . . . . . . 1.0E-182 0.000 0.063 . 0.016 0.001 . 0.037 . 0.009 . -0.527 . . . . . 1 1538 10 1/0 0,244,255 +rs113251740 7 100551133 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551133 100551133 Chr7(GRCh37):g.100551133C>T 1714 1714 XM_001725354.6:c.1714C>T p.Leu572Phe p.Leu572Phe 2 158371 -1642 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 rs113251740 no no 0 T 0.000000 0 0.000045 0.000072 0.000032 0.000107 0.000150 0.000070 0.000028 0.000000 0.000000 0.000150 10 1 1 1 2 2 3 0 0 220864 13818 31414 9362 13306 28430 107040 12408 5086 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 1 1 1 2 2 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -4.234 L Leu CTC 0.197 F Phe TTC 0.546 572 10 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Not scored 0.0 0.0 247 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1714T:p.L572F . . 0.3 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.037 . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L572F|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4612 3.001 -0.461 n . . . . . . . . . 0 0.0004 0.0004 0.0019 0 0.0003 0 0.0007 0 0.0004 0.0002 0.0021 0.0003 0.0002 0.0029 0.0007 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.059 @ . . . 0.52 0.33 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.010 . . . HET . rs113251740 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0 2.8e-05 3.189e-05 0.0001 0.0002 0 0 0 7.035e-05 0.0060 0.0006 0 0 0 0 0.0005 0 . . 0.024 . . . . . . . . 1.0E-247 0.000 0.063 . 0.016 0.002 . 0.001 . 0.003 . -1.380 . . . rs113251740 rs113251740 1 1538 10 1/0 0,255,255 +rs374707597 7 100551144 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551144 100551144 Chr7(GRCh37):g.100551144A>G 1725 1725 XM_001725354.6:c.1725A>G p.Ser575= p.Ser575Ser 2 158371 -1631 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 rs374707597 yes no Frequency 1 A 0.000000 0 0.000031 0.000072 0.000000 0.000000 0.000065 0.000000 0.000046 0.000000 0.000000 0.000072 7 1 0 0 1 0 5 0 0 227490 13932 32644 9514 15296 29570 108802 12456 5276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 1 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.409 S Ser TCA 0.148 S Ser TCG 0.056 575 113 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1725G:p.S575S . . 0.11340206 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S575|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.0017 . . . . . . . . 1.180e-04 . . . 0 0.0002 0.0003 0 0 0.0001 0 0.0004 0 9.9e-05 9.04e-05 0 0.0002 3.857e-05 0 0.0004 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs374707597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.358e-05 0 0 6.543e-05 0 1.944e-05 0 0 0.0063 0.0006 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . . . rs374707597 rs374707597 1 1538 10 1/0 0,233,255 +rs371389894 7 100551272 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551272 100551272 Chr7(GRCh37):g.100551272C>A 1853 1853 XM_001725354.6:c.1853C>A p.Ser618Tyr p.Ser618Tyr 2 158371 -1503 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 rs371389894 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.007600 0.000000 0.000000 0.000000 0.001400 0.000714 0.011422 0.000149 0.000000 0.000000 0.000000 0.000000 0.000000 0.000184 0.011422 167 161 5 0 0 0 0 0 1 234050 14096 33446 9916 16944 30510 111150 12552 5436 0.000009 0.000142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 165 159 5 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3982 1737 5719 0 15 15 0 0.00856164 0.00261597 0 0.00856164 0.00261597 185 COSM5765570 Large intestine 0.000450 2220 transversion C A C>A 0.016 1.255 S Ser TCC 0.220 Y Tyr TAC 0.562 618 10 2 Gorilla -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 353.86 0.00 Tolerated 0.19 IV.32 175 PASS . . . . . 0.0076 0.0022 0.0014 . . . ENSG00000169894:ENST00000319509:exon1:c.C23A:p.S8Y . MUC3A:NM_005960:exon2:c.C1853A:p.S618Y . . 0.10204082 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.223 . @ . . . . . 1 0.103 . . 196.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S618Y|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) 0.0086 0.0026 . 0.0086 0.0026 . . -0.9583 -1.087 -0.958 c . . . . . 4.984e-04 . . . 0.0070 0.0007 8.817e-05 0 0 0 0 0 0.0073 0.0005 9.038e-05 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV . . . exonic ncRNA_exonic exonic . . 0.194 0.0022 . . . 0.37 0.32 182 ENSG00000169894 MUC3B MUC3A . . . 1.000 0.747 . 10 0.000153903 64976 0 0 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.044 . . 0.281 . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.232 . 0.092 . LowAF 0 rs371389894 . . . . . . . . . . . . VI.16 0.008373 ENST00000319509 I.99 1.IX . 0.060000 . . . . 0.002616 . 0.154 . . . 0.0072 0.0005 0.0001 0 0 0 0 0 0 0.2460 0.0090 0 0 0 0 0 0.0066 . . 0.003 . 0.403 0.403000 . . 0.060000 . . 1.0E-175 0.000 0.063 . 0.043 0.000 . 0.092 . 0.067 0.403 -0.747 0.0086 . . rs371389894 rs371389894 1 1538 10 1/0 0,197,255 +rs4992769 7 100607703 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution intron GRCh37 100607703 100607703 Chr7(GRCh37):g.100607703A>G 3723-43 3723-43 XM_001725354.6:c.3723-43A>G p.? p.? 6 5 158371 -43 3' 77.6864 3.24104 0.20611 0 77.6864 3.24104 0.20611 0 0 rs4992769 yes no Frequency 1 A 0.000000 0 0.000077 0.000000 0.000213 0.000000 0.000300 0.000544 0.000000 0.000000 0.000000 0.000544 5 0 1 0 1 3 0 0 0 65358 5766 4702 3134 3336 5510 36900 4448 1562 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 1 3 0 0 0 0 0 0 0 0 0 0 0 0 RF 270 Exomes transition A G A>G 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . INTRON(MODIFIER||||MUC3A|mRNA|CODING|NM_005960|) . . . . . . . -0.3769 . . . . . . . . 3.809e-05 . . . 0 4.352e-05 0 0 0 0 0 0.0004 0 3.4e-05 0 0 0 0 0 0.0004 . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.24 0.51 182 ENSG00000225946 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992769 0.174 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.65e-05 0.0002 0 0.0003 0 0 0 0.0005 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.17 rs4992769 rs4992769 rs4992769 rs4992769 1 1538 10 1/0 0,215,255 +rs4992768 7 100607706 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution intron GRCh37 100607706 100607706 Chr7(GRCh37):g.100607706T>C 3723-40 3723-40 XM_001725354.6:c.3723-40T>C p.? p.? 6 5 158371 -40 3' 77.6864 3.24104 0.20611 0 77.6864 3.24104 0.20611 0 0 rs4992768 yes no Frequency 1 T 0.000000 0 0.000015 0.000000 0.000000 0.000000 0.000000 0.000180 0.000000 0.000000 0.000000 0.000180 1 0 0 0 0 1 0 0 0 65570 5794 4678 3160 3348 5542 37036 4454 1558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 279 Exomes transition T C T>C 0.000 -1.086 215 PASS . . . . . . . . . . . . . . . . 0.19863014 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . INTRON(MODIFIER||||MUC3A|mRNA|CODING|NM_005960|) . . . . . . . -0.5905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.29 0.48 182 ENSG00000225946 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.525e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs4992768 rs4992768 rs4992768 rs4992768 1 1538 10 1/0 0,219,255 +rs4992767 7 100607707 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution intron GRCh37 100607707 100607707 Chr7(GRCh37):g.100607707T>C 3723-39 3723-39 XM_001725354.6:c.3723-39T>C p.? p.? 6 5 158371 -39 3' 77.6864 3.24104 0.20611 0 77.6864 3.24104 0.20611 1.08529 0 rs4992767 yes no Frequency 1 T 0.000000 0 0.000026 0.000000 0.000000 0.000000 0.000068 0.000117 0.000000 0.000092 0.000000 0.000117 5 0 0 0 1 3 0 1 0 192966 12120 28678 7906 14714 25658 88586 10844 4460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 1 3 0 1 0 0 0 0 0 0 0 0 0 0 RF 94 Exomes transition T C T>C 0.000 -0.117 202 PASS . . . . . . . . . . . . . . . . 0.16374269 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 171.0 . . INTRON(MODIFIER||||MUC3A|mRNA|CODING|NM_005960|) . . . . . . . -0.3143 . . . . . . . . 1.674e-05 . . . 0 1.25e-05 0 0 0 0 0 6.798e-05 0 1.01e-05 0 0 0 0 0 6.837e-05 . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.3 0.48 182 ENSG00000225946 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.591e-05 0 0 6.796e-05 9.222e-05 0 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs4992767 rs4992767 rs4992767 rs4992767 1 1538 10 1/0 0,209,255 +rs4992766 7 100607709 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution intron GRCh37 100607709 100607709 Chr7(GRCh37):g.100607709C>T 3723-37 3723-37 XM_001725354.6:c.3723-37C>T p.? p.? 6 5 158371 -37 3' 77.6864 3.24104 0.20611 0 77.6864 3.24104 0.20611 0 0 rs4992766 yes no Frequency 1 C 0.000000 0 0.000010 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 0.000000 0.000077 2 0 0 0 0 2 0 0 0 193590 12130 28800 7918 14816 25836 88736 10874 4480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 96 Exomes transition C T C>T 0.000 -0.360 204 PASS . . . . . . . . . . . . . . . . 0.16860466 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . INTRON(MODIFIER||||MUC3A|mRNA|CODING|NM_005960|) . . . . . . . -0.2447 . . . . . . . . 8.373e-06 . . . 0 1.249e-05 0 0 0 0 0 6.759e-05 0 1.01e-05 0 0 0 0 0 6.798e-05 . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.3 0.51 182 ENSG00000225946 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.033e-05 0 0 0 0 0 0 7.741e-05 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs4992766 rs4992766 rs4992766 rs4992766 1 1538 10 1/0 0,209,255 +rs78669523 7 100616151 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution intron GRCh37 100616151 100616151 Chr7(GRCh37):g.100616151G>A 67+3181 67+3181 NM_001164462.1:c.67+3181G>A p.? p.? 1 1 604609 3181 5' 95.6376 X.36 0.996295 12.0055 95.6376 X.36 0.996295 12.0055 0 rs78669523 no no 0 G 0.000000 0 0.001283 0.004735 0.000000 0.000000 0.000000 0.000000 0.000140 0.006809 0.000000 0.006809 13 5 0 0 0 0 1 7 0 10130 1056 210 264 108 0 7168 1028 296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 5 0 0 0 0 1 7 0 0 0 0 0 0 0 0 0 0 RF 159 Genomes transition G A G>A 0.008 0.205 215 PASS . . . . . . . . . . . ENSG00000205277:ENST00000379442:exon3:c.G114A:p.W38X . . . . 0.2 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.092 . @ . . . . . 2 0.227 . . 55.0 . . . . . . . . . . -0.8646 -1.055 -0.865 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . . exonic intronic intronic . . 0.171 @ . . . 0.28 0.36 182 ENSG00000205277 MUC12 MUC12 . . . 0.072 0.156 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . 0.172 . . . HET . rs78669523 . . . . . . . . . . . . V.79 . ENST00000379442 I.61 0.678 . 1.000000 . . . . . . 0.045 . . . . . . . . . . . . 0.0047 0.0013 0 0 0 0.0068 0.0001 0 . . 0.185 . 0.223 0.223000 . . 1.000000 . . 1.0E-215 0.000 0.063 . 0.074 0.007 . 0.092 . 0.119 0.223 -0.913 . . . rs78669523 rs78669523 1 1538 10 1/0 0,255,255 +rs770439045 7 100636107 C A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100636107 100636107 Chr7(GRCh37):g.100636107C>A 2263 2263 NM_001164462.1:c.2263C>A p.Pro755Thr p.Pro755Thr 2 604609 2196 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs770439045 yes no Frequency 1 0.000000 0 0.000165 0.001101 0.000081 0.000000 0.000000 0.000088 0.000098 0.000000 0.000000 0.001101 28 17 2 0 0 2 7 0 0 169456 15436 24686 8454 11652 22756 71318 10418 4736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 17 2 0 0 2 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.965 -0.521 P Pro CCT 0.283 T Thr ACT 0.243 755 12 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Not scored 0.0 0.0 good 4.415E-1 0.02834 180 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.C2263A:p.P755T MUC12:NM_001164462:exon2:c.C2263A:p.P755T . . 0.11304348 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.040 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P755T|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -1.1114 -1.286 -1.111 c . . . . . 2.811e-04 . . . 0.0031 0.0003 0 0 0 0 0 0.0001 0.0036 0.0003 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.098 @ . . . 0.21 0.26 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.157 0.006 . . 37 . 0.065 . . 0.414 . . . 0.380 0.192 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.614 . . . . . 0.126 . 0.138 . LowAF . rs770439045 . . . . . . . . . . . . IV.42 0.001425 . 0.481 -0.962 . 0.600000 . . . . . . 0.017 . . . 0.0006 8.644e-05 8.386e-05 0 0 0 7.088e-05 0 8.789e-05 0.0015 0.0005 0 0 0 0 0.0002 0 . . 0.372 . -0.633 -0.633000 . . 0.600000 . . 1.0E-180 0.000 0.063 . 0.016 0.131 . 0.046 . 0.048 -0.633 0.412 . . . rs67995939 rs67995939 1 1538 10 1/0 0,221,255 +. 7 100638315 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100638315 100638315 Chr7(GRCh37):g.100638315G>A 4471 4471 NM_001164462.1:c.4471G>A p.Glu1491Lys p.Glu1491Lys 2 604609 4404 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 0.003789 0.001472 0.002206 0.004831 0.000000 0.001663 0.006340 0.012585 0.005569 0.012585 202 8 23 6 0 10 120 26 9 53308 5434 10426 1242 7584 6012 18928 2066 1616 0.000038 0.000368 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 200 6 23 6 0 10 120 26 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 E Glu GAA 0.417 K Lys AAA 0.425 1491 12 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 good 5.727E-1 0.5324 196 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.G4471A:p.E1491K MUC12:NM_001164462:exon2:c.G4471A:p.E1491K . . 0.14935064 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.356 . . 462.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E1491K|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -1.0692 -1.249 -1.069 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.096 @ . . . 0.35 0.34 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.297 0.012 . . 37 . 0.048 . . 0.425 . . . 0.159 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.168 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . . . 0.062 . LowAF . . . . . . . . . . . . . . . . . 0.499 -0.998 . 0.650000 . . . . . . 0.040 . . . 0.0008 0.0033 0.0022 0.0049 0 0.0029 0.0064 0.0055 0.0017 0.0072 0.0098 0 0 0 0.0174 0.0052 0.0065 . . 0.246 . -0.602 -0.602000 . . 0.650000 . . 1.0E-196 0.000 0.063 . 0.016 0.230 . 0.148 . 0.016 -0.602 0.060 . . rs71256206 rs71256206 rs71256206 1 1538 10 1/0 0,164,255 +. 7 100638389 T A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution synonymous exon GRCh37 100638389 100638389 Chr7(GRCh37):g.100638389T>A 4545 4545 NM_001164462.1:c.4545T>A p.Val1515= p.Val1515Val 2 604609 4478 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 0.000234 0.000959 0.000363 0.001529 0.000000 0.000000 0.000089 0.000000 0.000000 0.001529 14 6 4 2 0 0 2 0 0 59792 6258 11030 1308 7792 6086 22354 3178 1786 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 6 4 2 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 -1.005 V Val GTT 0.178 V Val GTA 0.114 1515 232 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.T4545A:p.V1515V MUC12:NM_001164462:exon2:c.T4545A:p.V1515V . . 0.24764891 . . @ 158 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 638.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtT/gtA|V1515|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -0.4685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.31 182 ENSG00000205277 MUC12 MUC12 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0.0004 0.0016 0 0 0.0001 0 0 0.0022 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . rs71256207 rs71256207 rs71256207 1 1538 10 1/0 0,159,223 +rs202000974 7 100638621 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100638621 100638621 Chr7(GRCh37):g.100638621G>A 4777 4777 NM_001164462.1:c.4777G>A p.Gly1593Ser p.Gly1593Ser 2 604609 4710 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs202000974 yes no Frequency 1 G 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000089 0.000028 0.000000 0.000000 0.000089 4 0 0 0 0 2 2 0 0 168758 15394 24656 8354 11628 22478 71196 10354 4698 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.037 G Gly GGC 0.342 S Ser AGC 0.243 1593 12 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 178 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.G4777A:p.G1593S MUC12:NM_001164462:exon2:c.G4777A:p.G1593S . . 0.109004736 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.070 . @ . . . . . 1 0.231 . . 211.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1593S|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -1.1189 -1.281 -1.119 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.123 @ . . . 0.35 0.24 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.190 0.007 . . 37 . 0.061 . . 0.410 . . . 0.094 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.131 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.512 . . . . . 0.115 . 0.156 . LowAF . rs202000974 . . . . . . . . . . . . IV.84 . . 0.936 -0.256 . 0.750000 . . . . . . 0.013 . . . 0 1.439e-05 0 0 0 0 0 0 8.898e-05 0 6.716e-05 0 0 0 0 0.0001 0 . . 0.428 . -0.075 -0.075000 . . 0.750000 . . 1.0E-178 0.001 0.137 . 0.062 0.008 . 0.128 . 0.295 -0.075 0.427 . . . rs79638663 rs202000974 1 1538 10 1/0 0,195,255 +rs534166778 7 100638940 T C - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100638940 100638940 Chr7(GRCh37):g.100638940T>C 5096 5096 NM_001164462.1:c.5096T>C p.Met1699Thr p.Met1699Thr 2 604609 5029 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs534166778 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.003100 0.000000 0.000000 0.000000 0.000562 0.000062 0.000243 0.000000 0.000000 0.002371 0.000450 0.000094 0.000411 0.002371 97 1 6 0 0 54 33 1 2 172652 16106 24712 8542 11658 22776 73318 10668 4872 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 97 1 6 0 0 54 33 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -5.767 M Met ATG 1.000 T Thr ACG 0.116 1699 12 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 353.86 0.00 Not scored 0.0 0.0 good 7.495E-1 0.5544 218 PASS . . . . . . 0.0006 . . . 0.0031 . MUC12:uc003uxo.3:exon2:c.T5096C:p.M1699T MUC12:NM_001164462:exon2:c.T5096C:p.M1699T . . 0.20689656 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.003 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M1699T|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -2.7575 -2.917 -2.757 c . . . . . 8.271e-04 . . . 0 0.0011 0 0 0 0.0005 0 0.0022 0 0.0012 0 0 0 0.0008 0 0.0022 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.107 . . exonic exonic exonic . . 0.082 0.0006 . . . . . . ENSG00000205277 MUC12 MUC12 . . . 1.000 0.747 . 8 0.000123122 64976 6 0.000100023 59986 Uncertain_significance . 0 . . . . . . T 0.339 0.014 . . 37 . 0.035 . . 0.480 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.140 . . . . . . . 0.018 . HET . rs534166778 . . . . . . . . . . . . . 0.0 . 0.742 -1.48 . 1.000000 . . . . . . 0.001 . . . 0 0.0006 0.0002 0 0 0 0.0005 0.0005 0.0024 0.0001 0.0002 0.0012 0 0 0.0003 0.0003 0 . . 0.283 . -5.961 -5.961000 . . 1.000000 . . 1.0E-218 0.000 0.063 . 0.016 0.148 . 0.020 . 0.004 -5.961 -2.049 . . . . . 1 1538 10 1/0 0,229,255 +rs116336397 7 100638941 G C - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100638941 100638941 Chr7(GRCh37):g.100638941G>C 5097 5097 NM_001164462.1:c.5097G>C p.Met1699Ile p.Met1699Ile 2 604609 5030 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs116336397 yes no Frequency/1000G 2 0.000000 0 0.005192 0.018900 0.000000 0.000000 0.000000 0.001400 0.002526 0.021950 0.001861 0.000000 0.000000 0.000307 0.000327 0.000000 0.001231 0.021950 436 353 46 0 0 7 24 0 6 172632 16082 24716 8542 11660 22778 73310 10668 4876 0.000243 0.002612 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 21 21 0 0 0 0 0 0 0 394 311 46 0 0 7 24 0 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3181 1353 4534 1 31 32 0.000314268 0.0223988 0.00700832 0.000314268 0.0223988 0.00700832 186 transversion G C G>C 0.000 -2.135 M Met ATG 1.000 I Ile ATC 0.481 1699 12 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Not scored 0.0 0.0 good 8.007E-1 0.5544 212 PASS 0.02 0.0037 . . . 0.019 0.0052 0.0014 . . . . MUC12:uc003uxo.3:exon2:c.G5097C:p.M1699I MUC12:NM_001164462:exon2:c.G5097C:p.M1699I . . 0.19130434 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.018 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M1699I|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) 0.022 0.007 0.0003 0.022 0.007 0.0003 . -1.4412 -1.638 -1.441 c . . . . . 2.157e-03 . . . 0.0237 0.0029 0.0026 0 0 0.0002 0.0054 0.0003 0.0235 0.0025 0.0034 0 0 0.0002 0.0054 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.099 . . exonic exonic exonic . . 0.082 0.0052 . . . 0.37 0.23 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.067 . 43 0.000661783 64976 18 0.00030007 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.018 . . 0.341 . . . 0.019 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.098 . . . . . . . 0.101 . HET . rs116336397 . . . . . . . 0.003663003663003663 0.016260162601626018 0.0 0.0 0.0 . 0.019943 . 0.742 -1.48 . 0.200000 . . . . 0.007008 . 0.010 . . . 0.0235 0.0018 0.0018 0 0 0 0.0003 0.0015 0.0003 0.0205 0.0059 0.0048 0 0 0 0.0003 0 . . 0.283 . -2.160 -2.160000 . . 0.200000 . . 1.0E-212 0.000 0.063 . 0.016 0.156 . 0.001 . 0.001 -2.160 0.060 0.022 . . rs116336397 rs116336397 1 1538 10 1/0 0,228,255 +rs200508701 7 100640450 T C - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution synonymous exon GRCh37 100640450 100640450 Chr7(GRCh37):g.100640450T>C 6606 6606 NM_001164462.1:c.6606T>C p.Ser2202= p.Ser2202Ser 2 604609 6539 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs200508701 yes no Frequency 1 0.000000 0 0.001006 0.022727 0.000000 0.000000 0.010204 0.000728 0.000512 0.000000 0.000000 0.022727 16 9 0 0 1 1 5 0 0 15906 396 1328 614 98 1374 9758 1924 414 0.000126 0.005051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 14 7 0 0 1 1 5 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -1.893 S Ser AGT 0.149 S Ser AGC 0.243 2202 255 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.T6606C:p.S2202S MUC12:NM_001164462:exon2:c.T6606C:p.S2202S . . 0.38392857 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 224.0 . . SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S2202|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -0.7258 . . . . . . . . 8.529e-03 . . . 0 0 0 . 0 0 0 0 0 0 0 . 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.39 182 ENSG00000205277 MUC12 MUC12 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200508701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0271 0.0011 0 0 0.0104 0 0.0005 0 0.0007 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs57220743 rs57220743 rs57220743 rs200508701 1 1538 10 1/0 0,218,255 +rs145380029 7 100645781 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution synonymous exon GRCh37 100645781 100645781 Chr7(GRCh37):g.100645781G>A 11937 11937 NM_001164462.1:c.11937G>A p.Ala3979= p.Ala3979Ala 2 604609 -3020 5' 71.8032 9.04236 0.713884 3.76648 71.8032 9.04236 0.713884 3.76648 0 rs145380029 no no 0 G 0.000000 0 0.001417 0.008119 0.000285 0.000235 0.000432 0.000044 0.000611 0.005144 0.002108 0.008119 239 118 7 2 5 1 44 52 10 168688 14534 24540 8510 11566 22726 71960 10108 4744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 239 118 7 2 5 1 44 52 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.125 A Ala GCG 0.107 A Ala GCA 0.226 3979 192 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.G11937A:p.A3979A MUC12:NM_001164462:exon2:c.G11937A:p.A3979A . . 0.13958333 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 480.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A3979|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -0.2858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.38 182 ENSG00000205277 MUC12 MUC12 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs145380029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.208e-05 0 0 0 0 8.498e-05 0 4.4e-05 0.0173 0.0089 0.0105 0.0079 0.0033 0.0178 0.0030 0.0120 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs145380029 rs145380029 1 1538 10 1/0 0,162,255 +rs773508376 7 100646235 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100646235 100646235 Chr7(GRCh37):g.100646235G>A 12391 12391 NM_001164462.1:c.12391G>A p.Glu4131Lys p.Glu4131Lys 2 604609 -2566 5' 71.8032 9.04236 0.713884 3.76648 71.8032 9.04236 0.713884 3.76648 0 rs773508376 yes no Frequency 1 G 0.000000 0 0.001471 0.007739 0.000225 0.000324 0.000400 0.000057 0.001610 0.000900 0.001949 0.007739 186 81 5 2 4 1 80 6 7 126446 10466 22190 6174 9998 17678 49678 6670 3592 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 81 5 2 4 1 80 6 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.012 0.528 E Glu GAA 0.417 K Lys AAA 0.425 4131 12 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 good 5.125E-1 0.4602 183 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.G12391A:p.E4131K MUC12:NM_001164462:exon2:c.G12391A:p.E4131K . . 0.11969112 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.137 . @ . . . . . 1 0.045 . . 259.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4131K|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -0.9836 -1.143 -0.984 c . . . . . 2.845e-04 . . . 0 0.0002 0 0 0 0.0006 0 0 0 0.0001 0 0 0 0.0005 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.162 @ . . . 0.31 0.3 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.234 0.009 . . 37 . 0.059 . . 0.437 . . . 0.159 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . . . 0.088 . LowAF . rs773508376 . . . . . . . . . . . . . . . 0.53 0.53 . 0.600000 . . . . . . 0.031 . . . 0.0002 0.0002 0.0002 0 0.0002 0 0.0002 0 5.657e-05 0.0156 0.0092 0.0015 0.0115 0.0019 0.0029 0.0081 0.0126 . . 0.246 . 0.519 0.519000 . . 0.600000 . . 1.0E-183 0.000 0.063 . 0.043 0.105 . 0.036 . 0.067 0.519 0.427 . . . rs71256206 rs71256206 1 1538 10 1/0 0,187,255 +rs767639608 7 100678112 A C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100678112 100678112 Chr7(GRCh37):g.100678112A>C 3415 3415 NM_001040105.1:c.3415A>C p.Ser1139Arg p.Ser1139Arg 3 608424 3231 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100678110 2.82224 0.003155 72.7804 3.25576 0.005769 72.7804 rs767639608 yes no Frequency 1 A 0.000000 0 0.000147 0.000435 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 0.000435 4 3 0 0 0 0 1 0 0 27154 6904 768 274 1418 0 13736 3178 876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 61 Genomes transversion A C A>C 0.000 -0.279 S Ser AGT 0.149 R Arg CGT 0.082 1139 11 3 Cat -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0.01 II.99 bad 9.392E-3 0.02503 175 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.A3415C:p.S1139R MUC17:NM_001040105:exon3:c.A3415C:p.S1139R . . 0.11464968 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.026 . . 471.0 . . . . . . . . . . -1.3599 -1.540 -1.360 c . . . . . 1.894e-04 . . . 0.0011 0.0001 0 0 0 0 0 0.0001 0.0012 0.0002 0 0.0001 0 3.681e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.074 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.001 0.075 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.015 . . 0.448 . . . 0.275 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.152 . . 0 0 0 0 0 0 . 0.428 . . 0.340 . . . . . . 0 0.213 . . . . . 0.052 . 0.123 . LowAF 0.1 rs767639608 . . . . . . . . . . . . II.73 . ENST00000306151 0.899 -1.8 . 0.490000 Q685J3 . . . . . 0.041 . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 7.28e-05 0 . . 0.203 . -0.692 -0.692000 . . 0.490000 . . 1.0E-175 0.000 0.063 . 0.016 0.000 . 0.238 . 0.131 -0.692 -0.150 . . . . . 1 1538 10 1/0 0,161,255 +rs201692386 7 100679175 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679175 100679175 Chr7(GRCh37):g.100679175G>C 4478 4478 NM_001040105.1:c.4478G>C p.Ser1493Thr p.Ser1493Thr 3 608424 4294 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs201692386 yes no Frequency 1 G 0.000000 0 0.000268 0.001875 0.000059 0.000000 0.000433 0.000000 0.000121 0.000238 0.000161 0.001875 72 40 2 0 8 0 15 6 1 268640 21338 34118 9806 18464 29938 123562 25202 6212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 40 2 0 8 0 15 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5752916 Pancreas 0.000569 1758 transversion G C G>C 0.000 -0.763 S Ser AGT 0.149 T Thr ACT 0.243 1493 11 4 Cat 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Deleterious 0 II.99 unknown 0.0 0.0 186 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G4478C:p.S1493T MUC17:NM_001040105:exon3:c.G4478C:p.S1493T . . 0.12585033 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.002 . . 294.0 . . . . . . . . . . -1.4230 -1.546 -1.423 c . . . . . 7.906e-06 . . . 0 1.144e-05 0 0 0 2.421e-05 0 0 0 9.716e-06 0 0 0 1.868e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.077 @ . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.000 0.059 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.018 . . 0.483 . . . 0.396 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.211 . . 0.112 . . . . . . 0 0.134 . . . . . 0.026 . 0.064 . LowAF 0.28 rs201692386 0.065 0.087 . . . . . . . . . . I.83 . ENST00000306151 0.838 -1.68 . 0.710000 Q685J3 . . . . . 0.015 . . . 0 4.115e-06 2.998e-05 0 0 0 0 0 0 0.0066 0.0028 0.0013 0 0.0063 0.0019 0.0011 0.0012 . . 0.185 . -0.644 -0.644000 . . 0.710000 . . 1.0E-186 0.000 0.063 . 0.062 0.003 . 0.041 . 0.282 -0.644 0.373 0.065 . . rs201692386 rs201692386 1 1538 10 1/0 0,182,255 +rs753886175 7 100679184 C T - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679184 100679184 Chr7(GRCh37):g.100679184C>T 4487 4487 NM_001040105.1:c.4487C>T p.Pro1496Leu p.Pro1496Leu 3 608424 4303 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100679199 2.68091 0.261071 71.5246 3.43131 0.361068 71.5246 rs753886175 yes no Frequency 1 C 0.000000 0 0.000356 0.002736 0.000029 0.000000 0.000434 0.000000 0.000137 0.000356 0.000480 0.002736 96 58 1 0 8 0 17 9 3 269814 21200 34212 9988 18440 30354 124100 25274 6246 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 96 58 1 0 8 0 17 9 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5766442 Large intestine 0.000417 2398 transition C T C>T 0.000 0.286 P Pro CCT 0.283 L Leu CTT 0.129 1496 11 2 Dog -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 0.52 II.99 unknown 0.0 0.0 201 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.C4487T:p.P1496L MUC17:NM_001040105:exon3:c.C4487T:p.P1496L . . 0.16025642 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.120 . @ . . . . . 1 0.012 . . 312.0 . . . . . . . . . . -0.9922 -1.120 -0.992 c . . . . . 1.580e-05 . . . 9.671e-05 2.263e-05 0 0 0 2.409e-05 0 0 0.0001 1.926e-05 0 0 0 1.861e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.033 . . exonic exonic exonic . . 0.185 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.024 . . 0.459 . . . 0.387 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.334 . . 0.193 . . . . . . 0 0.377 . . . . . 0.152 . 0.106 . HET 0.02 rs753886175 . . . . . . . . . . . . V.68 . ENST00000306151 0.932 0.932 . 0.370000 Q685J3 . . . . . 0.056 . . . 0 8.178e-06 0 0 0 0 9.014e-06 0.0002 0 0.0098 0.0037 0.0013 0 0.0065 0.0029 0.0012 0.0025 . . 0.185 . 0.857 0.857000 . . 0.370000 . . 1.0E-201 0.003 0.159 . 0.043 0.006 . 0.390 . 0.292 0.857 0.545 . . . . . 1 1538 10 1/0 0,182,255 +rs778609388 7 100679192 G A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679192 100679192 Chr7(GRCh37):g.100679192G>A 4495 4495 NM_001040105.1:c.4495G>A p.Ala1499Thr p.Ala1499Thr 3 608424 4311 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Weakly Activated 100679199 2.68091 0.261071 71.5246 3.88171 0.285045 71.6437 rs778609388 yes no Frequency 1 G 0.000000 0 0.000511 0.003940 0.000029 0.000000 0.000650 0.000000 0.000201 0.000513 0.000641 0.003940 138 83 1 0 12 0 25 13 4 270080 21066 34230 10026 18448 30550 124184 25340 6236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 138 83 1 0 12 0 25 13 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5766415 Large intestine 0.000417 2398 transition G A G>A 0.004 -1.167 A Ala GCT 0.263 T Thr ACT 0.243 1499 11 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 1 II.99 unknown 0.0 0.0 201 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G4495A:p.A1499T MUC17:NM_001040105:exon3:c.G4495A:p.A1499T . . 0.16037735 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.012 . . 318.0 . . . . . . . . . . -1.9312 -2.013 -1.931 c . . . . . 2.369e-05 . . . 9.653e-05 2.248e-05 0 0 0 2.402e-05 0 0 0.0001 2.872e-05 0 0 0 3.713e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.078 @ . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.000 0.067 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.014 . . 0.479 . . . 0.281 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.092 . . 0 0 0 0 0 0 . 0.233 . . 0.139 . . . . . . 0 0.052 . . . . . 0.201 . 0.010 . HET 0.48 rs778609388 . . . . . . . . . . . . VI.63 . ENST00000306151 0.834 -1.67 . 0.710000 Q685J3 . . . . . 0.005 . . . 0 0 0 0 0 0 0 0 0 0.0144 0.0055 0.0014 0 0.0099 0.0042 0.0019 0.0051 . . 0.185 . -1.284 -1.284000 . . 0.710000 . . 1.0E-201 0.000 0.063 . 0.016 0.002 . 0.001 . 0.001 -1.284 -0.498 . . . rs200131573 rs200131573 1 1538 10 1/0 0,182,255 +rs757294503 7 100679235 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679235 100679235 Chr7(GRCh37):g.100679235G>C 4538 4538 NM_001040105.1:c.4538G>C p.Ser1513Thr p.Ser1513Thr 3 608424 4354 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs757294503 yes no Frequency 1 G 0.000000 0 transversion G C G>C 0.000 -0.521 S Ser AGC 0.243 T Thr ACC 0.361 1513 11 1 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 1 III.35 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G4538C:p.S1513T MUC17:NM_001040105:exon3:c.G4538C:p.S1513T . . 0.11904762 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.001 . . 336.0 . . . . . . . . . . -1.7400 -1.838 -1.740 c . . . . . 7.893e-06 . . . 0 1.107e-05 0 0 0 0 0 6.152e-05 0 9.453e-06 0 0 0 0 0 6.187e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.020 . . exonic exonic exonic . . 0.073 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.021 0.001 . . 37 . 0.015 . . 0.484 . . . 0.288 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 0 0.341 . . . . . 0.057 . 0.025 . LowAF 0.13 rs757294503 . . . . . . . . . . . . 3.0332 . ENST00000306151 0.922 -1.84 . 0.540000 Q685J3 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.185 . -0.636 -0.636000 . . 0.540000 . . 1.0E-183 0.000 0.063 . 0.016 0.000 . 0.048 . 0.027 -0.636 -2.345 . . . . . 1 1538 10 1/0 0,175,255 +rs571363585 7 100679236 C A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679236 100679236 Chr7(GRCh37):g.100679236C>A 4539 4539 NM_001040105.1:c.4539C>A p.Ser1513Arg p.Ser1513Arg 3 608424 4355 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs571363585 yes no Frequency/1000G 2 T 0.000200 A 1 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 271204 21238 34294 10082 18438 30722 124716 25428 6286 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -2.458 S Ser AGC 0.243 R Arg AGA 0.205 1513 11 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0.03 III.35 unknown 0.0 0.0 187 PASS . . . . . . 0.0002 . . . 0.001 . MUC17:uc003uxp.1:exon3:c.C4539A:p.S1513R MUC17:NM_001040105:exon3:c.C4539A:p.S1513R . . 0.12716763 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.002 . . 346.0 . . . . . . . . . . -1.5654 -1.752 -1.565 c . . . . . 1.579e-05 . . . 0 2.215e-05 0 0 0 0 0 0.0001 0 1.891e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.073 0.0002 . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.009 0.117 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.009 . . 0.419 . . . 0.627 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.428 . . 0.286 . . . . . . 0 0.721 . . . . . 0.036 . 0.097 . LowAF 0 rs571363585 . . . . . . . . . . . . 2.1702 . ENST00000306151 0.922 -1.84 . 0.250000 Q685J3 . . . . . 0.031 . . . 0 4.068e-06 0 0 0 0 0 0 3.255e-05 0 0 0 0 0 0 0 0 . . 0.185 . -2.410 -2.410000 . . 0.250000 . . 1.0E-187 0.000 0.063 . 0.016 0.001 . 0.051 . 0.019 -2.410 -1.302 . . . . . 1 1538 10 1/0 0,175,255 +. 7 100679237 A C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679237 100679237 Chr7(GRCh37):g.100679237A>C 4540 4540 NM_001040105.1:c.4540A>C p.Thr1514Pro p.Thr1514Pro 3 608424 4356 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25384 6064 732 268 1228 0 13108 3164 820 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 56 Genomes transversion A C A>C 0.000 -1.167 T Thr ACT 0.243 P Pro CCT 0.283 1514 11 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.23 III.35 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.A4540C:p.T1514P MUC17:NM_001040105:exon3:c.A4540C:p.T1514P . . 0.11898017 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.002 . . 353.0 . . . . . . . . . . -1.2204 -1.390 -1.220 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.073 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.002 0.087 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.015 . . 0.440 . . . 0.419 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.315 . . 0.181 . . . . . . 0 0.379 . . . . . 0.024 . 0.134 . LowAF 0.01 . . . . . . . . . . . . . I.49 . ENST00000306151 0.922 -1.84 . 0.220000 Q685J3 . . . . . 0.026 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.185 . -1.137 -1.137000 . . 0.220000 . . 1.0E-183 0.000 0.063 . 0.016 0.002 . 0.028 . 0.130 -1.137 0.656 . . . . . 1 1538 10 1/0 0,173,255 +. 7 100679323 C G - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679323 100679323 Chr7(GRCh37):g.100679323C>G 4626 4626 NM_001040105.1:c.4626C>G p.Ser1542Arg p.Ser1542Arg 3 608424 4442 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100679323 5.28484 0.02928 75.125 8.09288 0.439042 80.8834 0.004798 0.010589 0.002674 0.000000 0.016535 0.000000 0.002155 0.000607 0.003371 0.016535 131 73 2 0 21 0 30 2 3 27302 6894 748 282 1270 0 13922 3296 890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 73 2 0 21 0 30 2 3 0 0 0 0 0 0 0 0 0 RF 56 Genomes transversion C G C>G 0.000 -0.602 S Ser AGC 0.243 R Arg AGG 0.207 1542 11 2 Olive baboon -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Tolerated 0.3 II.99 unknown 0.0 0.0 197 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.C4626G:p.S1542R MUC17:NM_001040105:exon3:c.C4626G:p.S1542R . . 0.1509009 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.015 . . 444.0 . . . . . . . . . . -0.9801 -1.210 -0.980 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.020 . . exonic exonic exonic . . 0.073 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.001 0.077 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . 0.015 . . 0.472 . . . 0.387 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.206 . . 0 0 0 0 0 0 . 0.475 . . 0.340 . . . . . . 0 0.341 . . . . . 0.126 . 0.130 . HET 0.01 . . . . . . . . . . . . . IV.01 . ENST00000306151 0.922 -1.84 . 0.200000 Q685J3 . . . . . 0.073 . . . . . . . . . . . . 0.0106 0.0048 0.0027 0 0.0165 0.0006 0.0022 0.0034 . . 0.185 . -0.676 -0.676000 . . 0.200000 . . 1.0E-197 0.000 0.063 . 0.016 0.001 . 0.035 . 0.027 -0.676 0.545 . . . . . 1 1538 10 1/0 0,166,255 +. 7 100679327 C G - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679327 100679327 Chr7(GRCh37):g.100679327C>G 4630 4630 NM_001040105.1:c.4630C>G p.Pro1544Ala p.Pro1544Ala 3 608424 4446 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 0.004420 0.009658 0.002674 0.000000 0.015898 0.000000 0.002093 0.000304 0.002262 0.015898 120 66 2 0 20 0 29 1 2 27150 6834 748 282 1258 0 13856 3288 884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 66 2 0 20 0 29 1 2 0 0 0 0 0 0 0 0 0 RF 57 Genomes transversion C G C>G 0.000 -3.588 P Pro CCT 0.283 A Ala GCT 0.263 1544 11 2 Olive baboon -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 353.86 0.00 Tolerated 0.15 II.99 unknown 0.0 0.0 196 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.C4630G:p.P1544A MUC17:NM_001040105:exon3:c.C4630G:p.P1544A . . 0.14874142 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.003 . . 437.0 . . . . . . . . . . -1.9426 -2.132 -1.943 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.051 . . exonic exonic exonic . . 0.073 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.843 0.249 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.023 . . 0.409 . . . 0.315 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.249 . . 0 0 0 0 0 0 . 0.424 . . 0.315 . . . . . . 0 0.129 . . . . . 0.005 . 0.089 . LowAF . . . . . . . . . . . . . . 0.4613 . ENST00000306151 0.922 -1.84 . 0.780000 Q685J3 . . . . . 0.022 . . . . . . . . . . . . 0.0097 0.0044 0.0027 0 0.0159 0.0003 0.0021 0.0023 . . 0.185 . -3.495 -3.495000 . . 0.780000 . . 1.0E-196 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 -3.495 -3.100 . . . . . 1 1538 10 1/0 0,167,255 +rs758989741 7 100679342 T C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679342 100679342 Chr7(GRCh37):g.100679342T>C 4645 4645 NM_001040105.1:c.4645T>C p.Ser1549Pro p.Ser1549Pro 3 608424 4461 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs758989741 yes no Frequency 1 A 0.000000 0 0.003505 0.007622 0.002674 0.000000 0.013710 0.000000 0.001548 0.000307 0.002278 0.013710 93 50 2 0 17 0 21 1 2 26530 6560 748 278 1240 0 13566 3260 878 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 50 2 0 17 0 21 1 2 0 0 0 0 0 0 0 0 0 RF 58 Genomes COSM5764087 Large intestine 0.000834 2398 transition T C T>C 0.000 -1.732 S Ser TCT 0.185 P Pro CCT 0.283 1549 11 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.07 II.99 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.T4645C:p.S1549P MUC17:NM_001040105:exon3:c.T4645C:p.S1549P . . 0.13181818 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.026 . . 440.0 . . . . . . . . . . -2.0571 -2.127 -2.057 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.024 . . exonic exonic exonic . . 0.108 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.004 0.103 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.015 . . 0.465 . . . 0.124 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.208 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.274 . . . . . 0.033 . 0.071 . LowAF . . . . . . . . . . . . . . 2.0308 . ENST00000306151 0.922 -0.648 . 0.360000 Q685J3 . . . . . 0.019 . . . . . . . . . . . . 0.0076 0.0035 0.0027 0 0.0137 0.0003 0.0015 0.0023 . . 0.185 . -1.964 -1.964000 . . 0.360000 . . 1.0E-183 0.000 0.063 . 0.016 0.000 . 0.001 . 0.006 -1.964 -2.909 . . . . . 1 1538 10 1/0 0,165,255 +rs796404358 7 100679357 T A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679357 100679357 Chr7(GRCh37):g.100679357T>A 4660 4660 NM_001040105.1:c.4660T>A p.Ser1554Thr p.Ser1554Thr 3 608424 4476 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs796404358 no no 0 T 0.000000 0 0.001683 0.003471 0.002611 0.000000 0.006088 0.000000 0.000638 0.000301 0.002169 0.006088 47 25 2 0 8 0 9 1 2 27920 7202 766 284 1314 0 14106 3326 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 25 2 0 8 0 9 1 2 0 0 0 0 0 0 0 0 0 RF 55 Genomes COSM5766463 Large intestine 0.000417 2398 transversion T A T>A 0.083 1.255 S Ser TCT 0.185 T Thr ACT 0.243 1554 11 4 Cat 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Deleterious 0 II.99 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.T4660A:p.S1554T MUC17:NM_001040105:exon3:c.T4660A:p.S1554T . . 0.11954023 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.002 . . 435.0 . . . . . . . . . . -1.0169 -1.178 -1.017 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.185 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.014 . . 0.226 . . . 0.360 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.069 . . 0 0 0 0 0 0 . 0.475 . . 0.315 . . . . . . 0 0.306 . . . . . 0.098 . 0.111 . LowAF . . . . . . . . . . . . . . IV.35 . ENST00000306151 0.922 0.922 . 1.000000 Q685J3 . . . . . 0.041 . . . . . . . . . . . . 0.0035 0.0017 0.0026 0 0.0061 0.0003 0.0006 0.0022 . . 0.185 . 0.707 0.707000 . . 1.000000 . . 1.0E-183 0.000 0.063 . 0.016 0.003 . 0.035 . 0.104 0.707 0.614 . . . . . 1 1538 10 1/0 0,164,255 +rs139561019 7 100680234 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680234 100680234 Chr7(GRCh37):g.100680234G>C 5537 5537 NM_001040105.1:c.5537G>C p.Ser1846Thr p.Ser1846Thr 3 608424 5353 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs139561019 yes no Frequency/1000G 2 0.000000 0 0.003619 0.009004 0.001355 0.000000 0.010340 0.000000 0.000739 0.003213 0.001179 0.010340 96 60 1 0 14 0 10 10 1 26526 6664 738 274 1354 0 13536 3112 848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 96 60 1 0 14 0 10 10 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes transversion G C G>C 0.000 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 1846 11 2 Olive baboon 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 0.56 II.94 bad 2.152E-3 9.72E-5 193 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G5537C:p.S1846T MUC17:NM_001040105:exon3:c.G5537C:p.S1846T . . 0.14114115 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.001 . . 333.0 . . . . . . . . . . -1.4707 -1.581 -1.471 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.098 0.0008 . . . 0.3 0.38 182 ENSG00000169876 MUC17 MUC17 . . . 0.001 0.073 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.037 0.002 . . 37 . 0.018 . . 0.488 . . . 0.396 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.127 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 0 0.124 . . . . . . . 0.040 . LowAF . rs139561019 0.043 0.036 . . . . . . . . . . . . ENST00000306151 0.471 -0.942 . 0.650000 Q685J3 . . . . . 0.004 . . . . . . . . . . . . 0.0090 0.0036 0.0014 0 0.0103 0.0032 0.0007 0.0012 . . 0.133 . -0.559 -0.559000 . . 0.650000 . . 1.0E-193 0.000 0.063 . 0.016 0.003 . 0.057 . 0.013 -0.559 -1.464 0.043 . . rs139561019 rs139561019 1 1538 10 1/0 0,178,255 +rs202220584 7 100680243 C T - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680243 100680243 Chr7(GRCh37):g.100680243C>T 5546 5546 NM_001040105.1:c.5546C>T p.Pro1849Leu p.Pro1849Leu 3 608424 5362 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100680258 2.68091 0.42172 71.5246 3.43131 0.546058 71.5246 rs202220584 yes no Frequency 1 0.000000 0 0.004662 0.011474 0.001359 0.000000 0.011834 0.000000 0.001242 0.003856 0.001166 0.011834 125 78 1 0 16 0 17 12 1 26812 6798 736 272 1352 0 13684 3112 858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 78 1 0 16 0 17 12 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes COSM1446756 Upper aerodigestive tract 0.000803 1245 transition C T C>T 0.083 2.385 P Pro CCT 0.283 L Leu CTT 0.129 1849 11 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 0.12 II.94 bad 4.136E-5 0.0002166 196 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.C5546T:p.P1849L MUC17:NM_001040105:exon3:c.C5546T:p.P1849L . . 0.14836796 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.323 . @ . . . . . 1 0.014 . . 337.0 . . . . . . . . . . -0.8456 -1.012 -0.846 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.033 . . exonic exonic exonic . . 0.179 @ . . . 0.25 0.36 182 ENSG00000169876 MUC17 MUC17 . . . 0.027 0.138 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.020 . . 0.497 . . . 0.715 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.238 . . 0 0 0 0 0 0 . 0.475 . . 0.315 . . . . . . 0 0.308 . . . . . 0.272 . 0.036 . LowAF . rs202220584 . . . . . . ID\x3dCOSM1446756\x3bOCCURENCE\x3d1(large_intestine) . . . . . VII.57 . ENST00000306151 0.824 0.824 . 0.390000 Q685J3 . . . . . 0.063 . . . . . . . . . . . . 0.0115 0.0047 0.0014 0 0.0118 0.0039 0.0012 0.0012 . . 0.133 . 0.788 0.788000 . . 0.390000 . . 1.0E-196 0.000 0.063 . 0.016 0.008 . 0.097 . 0.068 0.788 0.143 . . . rs202220584 rs202220584 1 1538 10 1/0 0,178,255 +rs79565573 7 100680251 G A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680251 100680251 Chr7(GRCh37):g.100680251G>A 5554 5554 NM_001040105.1:c.5554G>A p.Ala1852Thr p.Ala1852Thr 3 608424 5370 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100680258 2.68091 0.42172 71.5246 3.88171 0.470103 71.6437 rs79565573 yes no Frequency 1 0.000000 0 0.005194 0.012409 0.002710 0.000000 0.011416 0.000000 0.001185 0.005825 0.004640 0.012409 137 82 2 0 15 0 16 18 4 26378 6608 738 268 1314 0 13498 3090 862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 137 82 2 0 15 0 16 18 4 0 0 0 0 0 0 0 0 0 RF 54 Genomes 8600 4387 12987 0 19 19 0 0.0043123 0.00146086 0 0.0043123 0.00146086 200 COSM5766901 Large intestine 0.000417 2398 transition G A G>A 0.138 -0.440 A Ala GCT 0.263 T Thr ACT 0.243 1852 11 2 Olive baboon 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.12 II.94 bad 1.194E-5 2.111E-5 199 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G5554A:p.A1852T MUC17:NM_001040105:exon3:c.G5554A:p.A1852T . . 0.15497077 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.212 . @ . . . . . 1 0.012 . . 342.0 . . . 0.0043 0.0015 . 0.0043 0.0015 . . -1.4004 -1.483 -1.400 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.119 @ . . . 0.29 0.3 182 ENSG00000169876 MUC17 MUC17 . . . 0.000 0.070 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.014 . . 0.465 . . . 0.622 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.059 . . 0 0 0 0 0 0 . 0.245 . . 0.154 . . . . . . 0 0.043 . . . . . 0.031 . 0.010 . HET . rs79565573 . 0.007 . . . . . . . . . . I.24 0.001873 ENST00000306151 0.824 -0.353 . 0.810000 Q685J3 . . . 0.001461 . 0.003 . . . . . . . . . . . . 0.0124 0.0052 0.0027 0 0.0114 0.0058 0.0012 0.0046 . . 0.133 . -0.086 -0.086000 . . 0.810000 . . 1.0E-199 0.000 0.063 . 0.016 0.003 . 0.144 . 0.001 -0.086 0.373 0.0043 . . rs79565573 rs200131573 1 1538 10 1/0 0,178,255 +rs200081448 7 100680294 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680294 100680294 Chr7(GRCh37):g.100680294G>C 5597 5597 NM_001040105.1:c.5597G>C p.Ser1866Thr p.Ser1866Thr 3 608424 5413 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs200081448 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003000 0.010200 0.002000 0.000000 0.000000 COSM4592783|COSM4592783 Upper aerodigestive tract|Large intestine 0.001606|0.000417 1245|2398 transversion G C G>C 0.000 -1.167 S Ser AGC 0.243 T Thr ACC 0.361 1866 11 4 Cat 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 0.09 II.94 unknown 0.0 0.0 190 PASS . . . . . 0.003 0.0032 . 0.002 . 0.01 . MUC17:uc003uxp.1:exon3:c.G5597C:p.S1866T MUC17:NM_001040105:exon3:c.G5597C:p.S1866T . . 0.13506493 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.001 . . 385.0 . . . . . . . . . . -1.4674 -1.594 -1.467 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.078 0.0032 . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.019 . . 0.487 . . . 0.409 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.131 . . 0.080 . . . . . . 0 0.277 . . . . . 0.049 . 0.059 . LowAF . rs200081448 . . . . . . . . . . . . II.96 . ENST00000306151 0.824 -1.65 . 0.630000 Q685J3 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.237 -1.237000 . . 0.630000 . . 1.0E-190 0.000 0.063 . 0.074 0.005 . 0.043 . 0.272 -1.237 0.150 . . . rs200081448 rs200081448 1 1538 10 1/0 0,171,255 +rs201207919 7 100680295 C A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680295 100680295 Chr7(GRCh37):g.100680295C>A 5598 5598 NM_001040105.1:c.5598C>A p.Ser1866Arg p.Ser1866Arg 3 608424 5414 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs201207919 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003000 0.010200 0.002000 0.000000 0.000000 COSM4592451|COSM4592451 Upper aerodigestive tract|Large intestine 0.001606|0.000417 1245|2398 transversion C A C>A 0.000 -4.234 S Ser AGC 0.243 R Arg AGA 0.205 1866 11 4 Cat -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0.02 II.94 unknown 0.0 0.0 188 PASS . . . . . 0.003 0.0032 . 0.002 . 0.01 . MUC17:uc003uxp.1:exon3:c.C5598A:p.S1866R MUC17:NM_001040105:exon3:c.C5598A:p.S1866R . . 0.13098237 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.001 . . 397.0 . . . . . . . . . . -2.0814 -2.261 -2.081 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.078 0.0449 . . . 0.3 0.35 182 ENSG00000169876 MUC17 MUC17 . . . 0.994 0.334 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.013 . . 0.377 . . . 0.656 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.428 . . 0.286 . . . . . . 0 0.599 . . . . . 0.002 . 0.100 . LowAF . rs201207919 . . . . . . . . . . . . 0.2913 . ENST00000306151 0.824 -1.65 . 0.350000 Q685J3 . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -4.132 -4.132000 . . 0.350000 . . 1.0E-188 0.000 0.063 . 0.043 0.004 . 0.002 . 0.005 -4.132 -2.107 . . . rs201207919 rs201207919 1 1538 10 1/0 0,170,255 +rs201970250 7 100680296 A C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680296 100680296 Chr7(GRCh37):g.100680296A>C 5599 5599 NM_001040105.1:c.5599A>C p.Thr1867Pro p.Thr1867Pro 3 608424 5415 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs201970250 yes no Frequency/1000G 2 0.000000 0 0.048123 0.044600 0.101200 0.076400 0.003000 0.004300 0.001617 0.002652 0.001889 0.000000 0.010477 0.003938 0.000024 0.000040 0.001909 0.010477 435 58 64 0 182 115 3 1 12 269040 21872 33874 10090 17372 29202 125358 24986 6286 0.000015 0.000000 0.000000 0.000000 0.000115 0.000068 0.000000 0.000000 0.000000 2 0 0 0 1 1 0 0 0 429 57 64 0 179 113 3 1 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4592165|COSM4592165 Upper aerodigestive tract|Large intestine 0.001606|0.000417 1245|2398 transversion A C A>C 0.106 0.044 T Thr ACT 0.243 P Pro CCT 0.283 1867 11 3 Frog -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.1 II.94 unknown 0.0 0.0 184 PASS . . . . . 0.045 0.048 0.0043 0.076 0.003 0.1 . MUC17:uc003uxp.1:exon3:c.A5599C:p.T1867P MUC17:NM_001040105:exon3:c.A5599C:p.T1867P . . 0.12176166 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.133 . @ . . . . . 1 0.003 . . 386.0 . . . . . . . . . . -0.7792 -1.029 -0.779 c . . . . . 5.266e-03 . . . 0.0088 0.0060 0.0080 0.0296 0.0032 0.0003 0.0043 0.0112 0.0073 0.0051 0.0079 0.0234 0.0021 0.0004 0.0058 0.0111 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.092 0.0481 . . . 0.31 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.000 0.071 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.025 . . 0.445 . . . 0.715 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.592 . . 0.436 . . . . . . 0 0.183 . . . . . 0.084 . 0.239 . LowAF . rs201970250 . . . . . . . . . . . . III.78 . ENST00000306151 0.824 -1.13 . 0.150000 Q685J3 . . . . . 0.051 . . . 0.0035 0.0018 0.0019 0 0.0111 4.579e-05 1.796e-05 0.0022 0.0039 0.0007 0.0003 0 0 0.0024 0 7.154e-05 0 . . 0.133 . -0.266 -0.266000 . . 0.150000 . . 9.999999999999999E-185 0.002 0.151 . 0.043 0.004 . 0.235 . 0.286 -0.266 0.423 . . . rs201970250 rs201970250 1 1538 10 1/0 0,170,255 +rs111850657 7 100680299 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680299 100680299 Chr7(GRCh37):g.100680299G>C 5602 5602 NM_001040105.1:c.5602G>C p.Ala1868Pro p.Ala1868Pro 3 608424 5418 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs111850657 yes no Frequency/1000G 2 0.000000 0 0.048123 0.044600 0.101200 0.076400 0.003000 0.004300 0.002092 0.006154 0.002027 0.000000 0.011784 0.003745 0.000128 0.000680 0.002086 0.011784 559 132 68 0 204 109 16 17 13 267238 21448 33548 10052 17312 29106 124550 24990 6232 0.000015 0.000093 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 555 130 68 0 204 107 16 17 13 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4592786|COSM4592786|COSM4592786 Upper aerodigestive tract|Large intestine|Bone 0.001606|0.000834|0.001757 1245|2398|569 transversion G C G>C 0.000 -3.023 A Ala GCA 0.226 P Pro CCA 0.274 1868 11 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Tolerated 1 II.94 unknown 0.0 0.0 187 PASS . . . . . 0.045 0.048 0.0043 0.076 0.003 0.1 . MUC17:uc003uxp.1:exon3:c.G5602C:p.A1868P MUC17:NM_001040105:exon3:c.G5602C:p.A1868P . . 0.12787724 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.010 . . 391.0 . . . . . . . . . . -2.1776 -2.263 -2.178 c . . . . . 1.917e-03 . . . 0.0039 0.0019 0.0016 0.0100 0.0013 2.383e-05 0.0028 0.0034 0.0030 0.0014 0.0014 0.0055 0.0008 3.691e-05 0 0.0034 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.028 . . exonic exonic exonic . . 0.078 0.0481 . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.312 0.193 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.012 . . 0.413 . . . 0.001 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.098 . . . . . 0.011 . 0.143 . LowAF . rs111850657 . . . . . . . . . . . . 0.8687 . ENST00000306151 0.824 -1.65 . 0.640000 Q685J3 . . . . . 0.003 . . . 0.0035 0.0018 0.0020 0 0.0115 4.571e-05 1.801e-05 0.0019 0.0037 0.0121 0.0051 0.0041 0 0.0159 0.0051 0.0010 0.0036 . . 0.133 . -3.231 -3.231000 . . 0.640000 . . 1.0E-187 0.000 0.063 . 0.016 0.001 . 0.005 . 0.002 -3.231 -2.786 . . . rs111850657 rs111850657 1 1538 10 1/0 0,170,255 +rs201138200 7 100680313 A G - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680313 100680313 Chr7(GRCh37):g.100680313A>G 5616 5616 NM_001040105.1:c.5616A>G p.Ile1872Met p.Ile1872Met 3 608424 5432 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Donor Strongly Activated 100680308 0.023126 59.7602 V.77 0.346704 71.9117 rs201138200 yes no Frequency/1000G 2 0.000000 0 0.008387 0.006100 0.020400 0.013900 0.000000 0.000000 0.000409 0.003146 0.000029 0.000000 0.000760 0.000000 0.000088 0.000512 0.000317 0.003146 111 70 1 0 14 0 11 13 2 271638 22252 34150 10056 18430 29934 125138 25366 6312 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 70 1 0 14 0 11 13 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8600 4397 12997 0 7 7 0 0.00158946 0.000538296 0 0.00158946 0.000538296 240 COSM4381530|COSM4381530|COSM4381530 Large intestine|Bone|Biliary tract 0.000417|0.001757|0.002717 2398|569|368 transition A G A>G 0.000 -2.619 I Ile ATA 0.163 M Met ATG 1.000 1872 11 1 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Tolerated 0.24 II.94 unknown 0.0 0.0 184 PASS . . . . . 0.0061 0.0084 . 0.014 . 0.02 . MUC17:uc003uxp.1:exon3:c.A5616G:p.I1872M MUC17:NM_001040105:exon3:c.A5616G:p.I1872M . . 0.12128713 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.004 . . 404.0 . . . 0.0016 0.0005 . 0.0016 0.0005 . . -1.6258 -1.839 -1.626 c . . . . . 7.948e-06 . . . 0 1.129e-05 0 0 0 0 0.0014 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.078 0.0084 . . . 0.34 0.36 182 ENSG00000169876 MUC17 MUC17 . . . 0.019 0.131 . 38 0.000584831 64976 2 3.33411e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.014 . . 0.332 . . . 0.092 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.469 . . 0.370 . . . . . . 0 0.118 . . . . . 0.005 . 0.081 . LowAF . rs201138200 . . . . . . . . . . . . 0.5001 . ENST00000306151 0.824 -1.65 . 0.230000 Q685J3 . . . 0.000538 . 0.007 . . . 0 0 0 0 0 0 0 0 0 0.0100 0.0041 0.0013 0 0.0108 0.0041 0.0008 0.0023 . . 0.133 . -2.737 -2.737000 . . 0.230000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.000 . 0.002 . 0.000 -2.737 -2.507 0.0016 . . rs201138200 rs201138200 1 1538 10 1/0 0,168,255 +rs368849364 7 100680463 G T - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680463 100680463 Chr7(GRCh37):g.100680463G>T 5766 5766 NM_001040105.1:c.5766G>T p.Arg1922Ser p.Arg1922Ser 3 608424 5582 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs368849364 yes no Frequency/1000G 2 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000008 1 0 0 0 0 0 1 0 0 264050 20952 32538 9974 17826 29398 122120 25230 6012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6212977 Haematopoietic and lymphoid tissue 0.000275 3634 transversion G T G>T 0.000 -2.458 R Arg AGG 0.207 S Ser AGT 0.149 1922 11 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Tolerated 0.54 II.94 bad 1.501E-4 0.0001143 180 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G5766T:p.R1922S MUC17:NM_001040105:exon3:c.G5766T:p.R1922S . . 0.11320755 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.094 . @ . . . . . 1 0.004 . . 318.0 . . . . . . . . . . -2.2977 -2.352 -2.298 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.028 . . exonic exonic exonic . . 0.073 0.0006 . . . 0.33 0.34 182 ENSG00000169876 MUC17 MUC17 . . . 0.011 0.121 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.011 . . 0.387 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.069 . 0.097 . LowAF . . . . . . . . . . . . . . III.94 . ENST00000306151 0.932 -1.86 . 0.890000 Q685J3 . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 0 4.21e-05 0 0 0 0 8.371e-05 0 . . 0.133 . -2.952 -2.952000 . . 0.890000 . . 1.0E-180 0.000 0.063 . 0.016 0.000 . 0.007 . 0.019 -2.952 -0.802 . . . . . 1 1538 10 1/0 0,177,255 +rs199605653 7 100680490 A G - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680490 100680490 Chr7(GRCh37):g.100680490A>G 5793 5793 NM_001040105.1:c.5793A>G p.Ile1931Met p.Ile1931Met 3 608424 5609 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Donor Strongly Activated 100680485 0.023126 59.7602 V.77 0.346704 71.9117 rs199605653 yes no Frequency 1 0.000000 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000309 0.000000 0.000309 1 0 0 0 0 0 0 1 0 27592 7022 778 280 1390 0 14000 3234 888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 51 Genomes COSM4594109|COSM4594109 Upper aerodigestive tract|Large intestine 0.000803|0.000417 1245|2398 transition A G A>G 0.000 -3.023 I Ile ATA 0.163 M Met ATG 1.000 1931 11 3 Cat 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Deleterious 0.04 II.99 bad 9.151E-4 0.0003309 184 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.A5793G:p.I1931M MUC17:NM_001040105:exon3:c.A5793G:p.I1931M . . 0.12021858 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.003 . . 366.0 . . . . . . . . . . -2.0112 -2.123 -2.011 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.091 @ . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.063 0.153 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.017 . . 0.462 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.315 . . . . . . . 0.086 . LowAF . rs199605653 . . . . . . . . . . . . . . ENST00000306151 0.579 -1.16 . 0.230000 Q685J3 . . . . . 0.020 . . . . . . . . . . . . 0 3.624e-05 0 0 0 0.0003 0 0 . . 0.133 . -3.327 -3.327000 . . 0.230000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.001 . 0.002 . 0.002 -3.327 -0.472 . . . rs199605653 rs199605653 1 1538 10 1/0 0,172,255 +rs778968018 7 100683114 G A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100683114 100683114 Chr7(GRCh37):g.100683114G>A 8417 8417 NM_001040105.1:c.8417G>A p.Ser2806Asn p.Ser2806Asn 3 608424 -3987 5' 87.385 8.31155 0.987033 6.31979 87.385 8.31155 0.987033 6.31979 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30776 8668 832 302 1620 0 14922 3460 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.004 0.367 S Ser AGT 0.149 N Asn AAT 0.464 2806 11 2 Olive baboon 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Deleterious 0.03 II.99 bad 1.664E-3 9.72E-5 255 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G8417A:p.S2806N MUC17:NM_001040105:exon3:c.G8417A:p.S2806N . . 0.44150943 . . @ 117 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.070 . . 265.0 . . . . . . . . . . -0.8497 -1.089 -0.850 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.021 . . exonic exonic exonic . . 0.113 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.000 0.050 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.021 . . 0.439 . . . 0.612 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.482 . . 0.453 . . . . . . 0 0.182 . . . . . 0.040 . 0.039 . HET 0.11 . . . . . . . . . . . . . II.77 . ENST00000306151 0.762 -0.513 . 0.350000 Q685J3 . . . . . 0.014 . . . . . . . . . . . . 0 3.249e-05 0 0 0 0 6.702e-05 0 . . 0.133 . -0.174 -0.174000 . . 0.350000 . . 1.0E-255 0.000 0.063 . 0.016 0.011 . 0.018 . 0.041 -0.174 0.457 . . . . . 1 1538 10 1/0 0,213,238 +rs540908060 7 100797681 G A - AP1S1 559 Adaptor related protein complex 1 sigma 1 subunit NM_001283.4 1 1305 477 NP_001274.1 P61966 substitution 5'UTR GRCh37 100797681 100797681 Chr7(GRCh37):g.100797681G>A -115 -115 NM_001283.4:c.-115G>A p.? p.? 1 603531 -118 5' 75.323 7.41715 0.575981 6.58223 75.323 7.41715 0.575981 6.58223 0 rs540908060 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.002000 0.000000 0.001000 0.001400 0.000711 0.000230 0.001205 0.000000 0.000000 0.000000 0.001266 0.000000 0.000000 0.001266 22 2 1 0 0 0 19 0 0 30928 8702 830 302 1620 0 15006 3490 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 2 1 0 0 0 19 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.709 1.739 255 PASS . . . . . . 0.0008 0.0014 . 0.001 0.002 . . . . . 0.33333334 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 21.0 . . UPSTREAM(MODIFIER||||AP1S1|mRNA|CODING|NM_001283|) . . . . . . . 1.0834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.0008 . . . . . . ENSG00000106367 AP1S1 AP1S1 ENST00000337619:c.-115G>A . . . . . 74 0.00113888 64976 71 0.00118361 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs540908060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . 0.0002 0.0007 0.0012 0 0 0 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 101459410 T G - CUX1 2557 Cut-like homeobox 1 NM_001202543.1 1 13869 4551 NP_001189472.1 substitution intron GRCh37 101459410 101459410 Chr7(GRCh37):g.101459410T>G 63+37 63+37 NM_001202543.1:c.63+37T>G p.? p.? 1 1 116896 37 5' 85.0987 7.19963 0.430049 5.49987 85.0987 7.19963 0.430049 6.13381 0 transversion T G T>G 1.000 0.932 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . I.08 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000257923 CUX1 CUX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 101877153 G C - CUX1 2557 Cut-like homeobox 1 NM_001202543.1 1 13869 4551 NP_001189472.1 substitution intron GRCh37 101877153 101877153 Chr7(GRCh37):g.101877153G>C 3467-179 3467-179 NM_001202543.1:c.3467-179G>C p.? p.? 22 21 116896 -179 3' 91.0315 XII.76 0.997257 12.0183 91.0315 XII.76 0.997257 12.0183 0 transversion G C G>C 0.000 -1.086 243 PASS . . . . . . . . . . . . . . . . 0.29166666 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.4959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000257923 CUX1 CUX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 101993714 T A - SPDYE6 35465 Speedy/RINGO cell cycle regulator family member E6 NM_001146210.3 -1 3151 1209 NP_001139682.2 P0CI01 substitution missense exon GRCh37 101993714 101993714 Chr7(GRCh37):g.101993714T>A 497 497 NM_001146210.3:c.497A>T p.Glu166Val p.Glu166Val 3 -114 5' 71.9513 5.0016 0.427041 4.48279 71.9513 5.0016 0.427041 4.48279 0 0.000764 0.001121 0.000913 0.000000 0.002452 0.000690 0.000056 0.000000 0.000000 0.002452 38 6 9 0 18 4 1 0 0 49742 5352 9858 1242 7342 5798 17908 762 1480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 6 9 0 18 4 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.008 0.448 E Glu GAG 0.583 V Val GTG 0.468 166 12 5 Dog -3 -2 -4 0.92 0 12.III 5.IX 83 84 121 C0 353.86 0.00 Deleterious 0.01 III.91 194 PASS . . . . . . . . . . . . SPDYE6:uc011kkp.2:exon3:c.A497T:p.E166V SPDYE6:NM_001146210:exon3:c.A497T:p.E166V . . 0.14634146 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.106 . @ . . . . . 1 0.027 . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gTg|E166V|SPDYE6|mRNA|CODING|NM_001146210|NM_001146210.ex.3) . . . . . . . -0.3091 -0.201 -0.309 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.158 @ . . . . . . ENSG00000166667 SPDYE6 SPDYE6 . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.380 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.764 . . 0.764 . . . . . . 0 . . . . . . . . 0.146 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.028 . . . 0.0012 0.0008 0.0009 0 0.0025 0 5.838e-05 0 0.0007 0 0 0 0 0 0 0 0 . . 0.042 . . . . . . . . 1.0E-194 0.003 0.159 . 0.111 0.101 . 0.117 . 0.277 . 0.368 . . . . . 1 1538 10 1/0 0,255,255 +rs564832666 7 102131533 G A - RASA4B 35202 RAS p21 protein activator 4B NM_001277335.1 -1 2794 2274 NP_001264264.1 substitution intron GRCh37 102131533 102131533 Chr7(GRCh37):g.102131533G>A 1830+2030 1830+2030 NM_001277335.1:c.1830+2030C>T p.? p.? 16 16 2030 5' 85.2503 8.22968 0.954669 10.597 85.2503 8.22968 0.954669 10.597 0 rs564832666 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000143 0.000530 0.000212 0.000000 0.000141 0.000000 0.000000 0.000000 0.000000 0.000530 9 6 2 0 1 0 0 0 0 62850 11312 9426 1250 7100 5520 23170 3220 1852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 6 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.890 2.142 177 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.10570825 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.208 . @ . . . . . 2 0.163 . . 473.0 . . INTRON(MODIFIER||||RASA4B|mRNA|CODING|NM_001277335.2|) . . . . . . . -0.6742 -0.504 -0.674 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.903 . . exonic exonic intronic . . 0.519 0.0002 . . . . . . ENSG00000170667 RASA4B RASA4B . . . 0.295 0.191 . . . . . . . . . 0 . 0.486 . . . . D 0.736 0.081 . . 37 . 0.738 . . 0.677 . . . 0.031 0.810 . . . . . . . . . . . . . . . 0.029 . . . . . . 0 . . 0.158 . . 0.104 . . . . . . 0 0.010 . . . . . 0.373 . 0.089 . LowAF . rs564832666 . . . . . . . . . . . . IX.22 . . IV.38 IV.38 . 1.000000 . . . . . . 0.268 . . IV.38 0.0008 0.0002 0.0002 0 0.0002 0 0 0 0 0.0003 0.0001 0 0 0 0 0 0 . . 0.558 . 1.985 1.985000 . . 1.000000 . . 1.0E-177 0.997 0.399 . 0.266 0.991 . 0.527 . 0.434 1.985 0.917 . . . . . 1 1538 10 1/0 0,159,255 +. 7 102141570 A G - RASA4B 35202 RAS p21 protein activator 4B NM_001277335.1 -1 2794 2274 NP_001264264.1 substitution synonymous exon GRCh37 102141570 102141570 Chr7(GRCh37):g.102141570A>G 615 615 NM_001277335.1:c.615T>C p.Leu205= p.Leu205Leu 7 -28 5' 77.4164 5.89048 0.718893 9.44227 77.4164 5.89048 0.718893 9.78317 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.945 -0.682 L Leu CTT 0.129 L Leu CTC 0.197 205 197 PASS . . . . . . . . . . . . . RASA4B:NM_001277335:exon7:c.T615C:p.L205L . . 0.15384616 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 39.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctT/ctC|L205|RASA4B|mRNA|CODING|NM_001277335.2|NM_001277335.2.ex.7) . . . . . . . 0.3880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000170667 RASA4B RASA4B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199949668 7 102141600 C T - RASA4B 35202 RAS p21 protein activator 4B NM_001277335.1 -1 2794 2274 NP_001264264.1 substitution synonymous exon GRCh37 102141600 102141600 Chr7(GRCh37):g.102141600C>T 585 585 NM_001277335.1:c.585G>A p.Ala195= p.Ala195Ala 7 -58 5' 77.4164 5.89048 0.718893 9.44227 77.4164 5.89048 0.718893 9.28834 0 Cryptic Donor Strongly Activated 102141598 3.76816 0.005378 60.2684 4.94332 0.025737 63.0164 rs199949668 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.008 -0.440 A Ala GCG 0.107 A Ala GCA 0.226 195 255 PASS . . . . . . . . . . . . . RASA4B:NM_001277335:exon7:c.G585A:p.A195A . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A195|RASA4B|mRNA|CODING|NM_001277335.2|NM_001277335.2.ex.7) . . . . . . . 0.0239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.36 182 ENSG00000170667 RASA4B RASA4B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199949668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11547190 rs11547190 rs11547190 rs11547190 1 1538 10 1/0 0,255,255 +rs4729808 7 102158166 G C - RASA4B 35202 RAS p21 protein activator 4B NM_001277335.1 -1 2794 2274 NP_001264264.1 substitution 5'UTR GRCh37 102158166 102158166 Chr7(GRCh37):g.102158166G>C -9 -9 NM_001277335.1:c.-9C>G p.? p.? 1 -74 5' 77.2441 5.03136 0.578311 XI.53 77.2441 5.03136 0.578311 XI.46 0 rs4729808 yes no Frequency 1 0.000000 0 0.000763 0.001439 0.000321 0.000756 0.000275 0.000248 0.000913 0.001030 0.001318 0.001439 50 9 2 2 1 3 24 7 2 65490 6254 6228 2646 3636 12112 26300 6796 1518 0.000061 0.000000 0.000000 0.000756 0.000000 0.000000 0.000076 0.000000 0.000000 2 0 0 1 0 0 1 0 0 46 9 2 0 1 3 22 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . UTR_5_PRIME(MODIFIER||||RASA4B|mRNA|CODING|NM_001277335.2|NM_001277335.2.ex.1) . . . . . . . 0.5009 . . . . . . . . 2.839e-03 . . . 0.0020 0.0015 0.0039 0.0016 0 0.0015 0 0.0010 0.0017 0.0017 0.0041 0.0012 0.0041 0.0023 0 0.0010 . . . . . . ncRNA_intronic UTR5 UTR5 . . . @ . . . 0.73 0.61 182 ENSG00000272949 RASA4B RASA4B . . NM_001277335:c.-9C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs773739095 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0006 0.0003 0.0008 0.0003 0.0010 0.0008 0 0.0002 0.0026 0.0021 0 0 0 0.0018 0.0016 0.0094 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.022 rs4729808 rs4729808 rs4729808 rs4729808 1 1538 255 1.I 0,0,255 +rs754613845 7 102196313 A T - POLR2J3 33853 Polymerase (RNA) II (DNA directed) polypeptide J3 NM_001097615.2 -1 1680 348 NP_001091084.2 Q9H1A7 substitution intron GRCh37 102196313 102196313 Chr7(GRCh37):g.102196313A>T *54+11131 *54+11131 NM_001097615.2:c.*54+11131T>A p.? p.? 4 4 11131 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 rs754613845 yes no Frequency 1 0.000000 0 0.001303 0.001175 0.000599 0.001404 0.003639 0.001904 0.000938 0.000706 0.001802 0.003639 50 8 4 1 13 8 13 1 2 38360 6806 6682 712 3572 4202 13860 1416 1110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 8 4 1 13 8 13 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.016 0.367 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.2662 . . . . . . . . 4.040e-03 . . . 0.0426 0.0333 0.125 0.3333 . 0.0169 0 0 0 0.0556 . 0.5 . 0 . 0 . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000205238 . . ENST00000341656:c.-87A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754613845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0017 0.0005 0.0016 0.0042 0 0.0015 0.0025 0.0019 0.0003 0.0003 0.0029 0 0 0.0008 0.0002 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs754613845 7 102196313 A T - SPDYE2 33841 Speedy homolog E2 (Xenopus laevis) NM_001031618.3 1 1983 1209 NP_001026789.2 substitution intron GRCh37 102196313 102196313 Chr7(GRCh37):g.102196313A>T 380-34 380-34 NM_001031618.3:c.380-34A>T p.? p.? 4 3 617624 -34 3' 86.4067 IV.41 0.773455 3.01454 86.4067 IV.41 0.773455 3.24423 0 102196313 -62.0695 rs754613845 yes no Frequency 1 0.000000 0 0.001303 0.001175 0.000599 0.001404 0.003639 0.001904 0.000938 0.000706 0.001802 0.003639 50 8 4 1 13 8 13 1 2 38360 6806 6682 712 3572 4202 13860 1416 1110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 8 4 1 13 8 13 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.016 0.367 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.2662 . . . . . . . . 4.040e-03 . . . 0.0426 0.0333 0.125 0.3333 . 0.0169 0 0 0 0.0556 . 0.5 . 0 . 0 . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000205238 . . ENST00000341656:c.-87A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754613845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0017 0.0005 0.0016 0.0042 0 0.0015 0.0025 0.0019 0.0003 0.0003 0.0029 0 0 0.0008 0.0002 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs762863194 7 102197663 G A - POLR2J3 33853 Polymerase (RNA) II (DNA directed) polypeptide J3 NM_001097615.2 -1 1680 348 NP_001091084.2 Q9H1A7 substitution intron GRCh37 102197663 102197663 Chr7(GRCh37):g.102197663G>A *54+9781 *54+9781 NM_001097615.2:c.*54+9781C>T p.? p.? 4 4 9781 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 Cryptic Acceptor Strongly Activated 102197651 7.53071 0.044663 72.4145 8.18562 0.064348 75.7292 rs762863194 yes no Frequency 1 0.000000 0 0.000897 0.000775 0.000285 0.000000 0.004801 0.000000 0.000526 0.001359 0.000704 0.004801 46 5 3 0 26 0 10 1 1 51264 6454 10516 1376 5416 6344 19002 736 1420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 5 3 0 26 0 10 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4004220 Haematopoietic and lymphoid tissue 0.000565 3540 transition C T C>T 0.039 -2.216 208 PASS . . . . . . . . . . . . SPDYE2B:uc011kkx.2:exon5:c.G663A:p.S221S . . . 0.18032786 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.6012 . . . . . . . . 3.531e-04 . . . 0 0.0031 0.0060 0.0459 0 0 0 0 0 0.0058 0.0066 0.0685 0 0.0015 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000205238 SPDYE2B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs762863194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0009 0.0003 0 0.0048 0.0014 0.0006 0.0007 0 0.0007 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs762863194 7 102197663 G A - SPDYE2 33841 Speedy homolog E2 (Xenopus laevis) NM_001031618.3 1 1983 1209 NP_001026789.2 substitution synonymous exon GRCh37 102197663 102197663 Chr7(GRCh37):g.102197663G>A 663 663 NM_001031618.3:c.663G>A p.Ser221= p.Ser221Ser 5 617624 -7 5' 94.6745 X.23 0.997884 4.78748 94.6745 X.23 0.998289 4.71338 0.000135286 Cell cycle regulatory protein, Spy1 rs762863194 yes no Frequency 1 0.000000 0 0.000897 0.000775 0.000285 0.000000 0.004801 0.000000 0.000526 0.001359 0.000704 0.004801 46 5 3 0 26 0 10 1 1 51264 6454 10516 1376 5416 6344 19002 736 1420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 5 3 0 26 0 10 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4004220 Haematopoietic and lymphoid tissue 0.000565 3540 transition G A G>A 0.039 -2.216 S Ser TCG 0.056 S Ser TCA 0.148 221 208 PASS . . . . . . . . . . . . SPDYE2B:uc011kkx.2:exon5:c.G663A:p.S221S . . . 0.18032786 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.6012 . . . . . . . . 3.531e-04 . . . 0 0.0031 0.0060 0.0459 0 0 0 0 0 0.0058 0.0066 0.0685 0 0.0015 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000205238 SPDYE2B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs762863194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0009 0.0003 0 0.0048 0.0014 0.0006 0.0007 0 0.0007 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 102201301 G A - POLR2J3 33853 Polymerase (RNA) II (DNA directed) polypeptide J3 NM_001097615.2 -1 1680 348 NP_001091084.2 Q9H1A7 substitution intron GRCh37 102201301 102201301 Chr7(GRCh37):g.102201301G>A *54+6143 *54+6143 NM_001097615.2:c.*54+6143C>T p.? p.? 4 4 6143 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 COSM6430631 Thyroid 0.001339 747 transition C T C>T 0.157 -0.037 174 PASS . . . . . . . . . . . . SPDYE2B:uc011kkx.2:exon7:c.G1010A:p.R337H . . . 0.13245033 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.226 . @ . . . . . 1 0.190 . . 151.0 . . . . . . . . . . -1.2400 -1.309 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.39 182 ENSG00000205238 SPDYE2B . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.147 . . 0.202 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.243 . . 0.179 . . . . . . 1 0.453 . . . . . . . 0.153 . LowAF 0.05 . . . . . . . . . . . . . . . . . . . 0.140000 Q495Y8 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.000 0.000000 . . 0.140000 . . 1.0E-174 0.164 0.236 . 0.207 0.161 . 0.128 . 0.135 0.000 0.000 . rs2960249 rs2960249 rs2960249 rs2960249 1 1538 10 1/0 0,212,255 +. 7 102201301 G A - SPDYE2 33841 Speedy homolog E2 (Xenopus laevis) NM_001031618.3 1 1983 1209 NP_001026789.2 substitution missense exon GRCh37 102201301 102201301 Chr7(GRCh37):g.102201301G>A 1010 1010 NM_001031618.3:c.1010G>A p.Arg337His p.Arg337His 7 617624 -140 5' 92.583 10.0326 0.987705 XII.94 92.583 10.0326 0.987705 XII.94 0 COSM6430631 Thyroid 0.001339 747 transition G A G>A 0.157 -0.037 R Arg CGT 0.082 H His CAT 0.413 337 21 4 Macaque 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 174 PASS . . . . . . . . . . . . SPDYE2B:uc011kkx.2:exon7:c.G1010A:p.R337H . . . 0.13245033 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.226 . @ . . . . . 1 0.190 . . 151.0 . . . . . . . . . . -1.2400 -1.309 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.39 182 ENSG00000205238 SPDYE2B . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.147 . . 0.202 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.243 . . 0.179 . . . . . . 1 0.453 . . . . . . . 0.153 . LowAF 0.05 . . . . . . . . . . . . . . . . . . . 0.140000 Q495Y8 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.000 0.000000 . . 0.140000 . . 1.0E-174 0.164 0.236 . 0.207 0.161 . 0.128 . 0.135 0.000 0.000 . rs2960249 rs2960249 rs2960249 rs2960249 1 1538 10 1/0 0,212,255 +. 7 102234157 G A - RASA4 23181 RAS p21 protein activator 4 NM_006989.5 -1 5606 2412 NP_008920.5 O43374 substitution synonymous exon GRCh37 102234157 102234157 Chr7(GRCh37):g.102234157G>A 1512 1512 NM_006989.5:c.1512C>T p.Ala504= p.Ala504Ala 14 607943 -4 5' 79.5269 8.16693 0.857949 XI.91 79.5269 8.16693 0.661542 X.92 -0.0763087 Cryptic Acceptor Strongly Activated 102234153 3.26633 0.031204 73.5146 3.73041 0.06211 73.5146 Ras GTPase-activating protein 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 1.000 2.627 A Ala GCC 0.403 A Ala GCT 0.263 504 233 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.0812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.59 182 ENSG00000105808 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VIII.66 . . III.43 II.53 . 0.020000 . . . . . . . . . II.53 . . . . . . . . . . . . . . . . . . . . . 0.755 0.755000 . . 0.020000 . . 1.0000000000000001E-233 . . . . . . . . . 0.755 . . rs739735 rs739735 rs739735 rs739735 1 1538 10 1/0 0,255,255 +rs550649247 7 102235741 T C - RASA4 23181 RAS p21 protein activator 4 NM_006989.5 -1 5606 2412 NP_008920.5 O43374 substitution intron GRCh37 102235741 102235741 Chr7(GRCh37):g.102235741T>C 1071+11 1071+11 NM_006989.5:c.1071+11A>G p.? p.? 11 11 607943 11 5' 90.3122 9.15773 0.923919 3.18185 90.3122 9.15773 0.923919 3.34384 0 rs550649247 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000000 0.000000 0.002000 0.000000 0.004300 0.000025 0.000000 0.000044 0.000000 0.000000 0.000150 0.000011 0.000000 0.000000 0.000150 5 0 1 0 0 3 1 0 0 202108 20174 22498 6966 13526 20024 94276 20022 4622 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.005 195 PASS . . . . . . 0.001 0.0043 0.002 . . . . . . . 0.14893617 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.1686 . . . . . . . . 5.152e-05 . . . 0 8.99e-05 0.0002 0 0 0 0 0.0004 0 0.0001 0.0002 0.0002 0 3.657e-05 0 0.0004 . . . . . . intronic ncRNA_intronic intronic . . . 0.0010 . . . . . . . BC085014 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs550649247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.814e-05 4.583e-05 0 0 0 1.209e-05 0 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 102240731 A G - RASA4 23181 RAS p21 protein activator 4 NM_006989.5 -1 5606 2412 NP_008920.5 O43374 substitution synonymous exon GRCh37 102240731 102240731 Chr7(GRCh37):g.102240731A>G 615 615 NM_006989.5:c.615T>C p.Leu205= p.Leu205Leu 7 607943 -28 5' 77.4164 5.89048 0.718893 9.44227 77.4164 5.89048 0.718893 9.78317 0 C2 calcium-dependent membrane targeting C2 membrane targeting protein 0.006494 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.071429 0.000000 1 0 0 0 0 0 0 0 1 154 0 40 0 0 98 2 0 14 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5426859 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.976 -0.521 L Leu CTT 0.129 L Leu CTC 0.197 205 223 PASS . . . . . . . . . . . . . . . . 0.2236842 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . 0.1737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000105808 RASA4 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0065 0 . . . 0 0.0714 0 . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 7 102295397 A T - POLR2J2 23208 Polymerase (RNA) II (DNA directed) polypeptide J2 NM_032959.5 -1 1987 348 NP_116581.3 Q9GZM3 substitution intron GRCh37 102295397 102295397 Chr7(GRCh37):g.102295397A>T *54+11127 *54+11127 NM_032959.5:c.*54+11127T>A p.? p.? 4 4 609881 11127 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 0.000371 0.001082 0.001050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001082 2 1 1 0 0 0 0 0 0 5394 924 952 86 602 1710 950 24 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 104 Exomes transversion T A T>A 0.185 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.2877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000173678 . . ENST00000455020:c.-87A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0004 0.0011 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 102295397 A T - SPDYE2B 48334 Speedy/RINGO cell cycle regulator family member E2B NM_001166339.1 1 1983 1209 NP_001159811.1 A6NHP3 substitution intron GRCh37 102295397 102295397 Chr7(GRCh37):g.102295397A>T 380-34 380-34 NM_001166339.1:c.380-34A>T p.? p.? 4 3 -34 3' 86.4067 IV.41 0.773455 3.01454 86.4067 IV.41 0.773455 3.24423 0 102295397 -62.0695 0.000371 0.001082 0.001050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001082 2 1 1 0 0 0 0 0 0 5394 924 952 86 602 1710 950 24 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 104 Exomes transversion A T A>T 0.185 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.2877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000173678 . . ENST00000455020:c.-87A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0004 0.0011 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs763948921 7 102296747 G A - POLR2J2 23208 Polymerase (RNA) II (DNA directed) polypeptide J2 NM_032959.5 -1 1987 348 NP_116581.3 Q9GZM3 substitution intron GRCh37 102296747 102296747 Chr7(GRCh37):g.102296747G>A *54+9777 *54+9777 NM_032959.5:c.*54+9777C>T p.? p.? 4 4 609881 9777 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 Cryptic Acceptor Strongly Activated 102296735 7.53071 0.044663 72.4145 8.18562 0.064348 75.7292 rs763948921 yes no Frequency 1 0.000000 0 0.003222 0.003812 0.002163 0.003614 0.005727 0.007958 0.001225 0.002861 0.004326 0.007958 206 38 24 6 45 53 29 4 7 63938 9968 11098 1660 7858 6660 23678 1398 1618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 206 38 24 6 45 53 29 4 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.087 -1.651 208 PASS . . . . . . . . . . . . SPDYE2B:uc011kle.2:exon5:c.G663A:p.S221S . . . 0.18421052 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.5360 . . . . . . . . 1.039e-03 . . . 0.0081 0.0068 0.0061 0.0122 0.025 0.0030 0 0.0087 0.0081 0.0086 0.0070 0.0139 0.0110 0.0040 0 0.0088 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000173678 SPDYE2B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs763948921 . . . . . . ID\x3dCOSM3083538\x3bOCCURENCE\x3d1(breast) . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0032 0.0022 0.0036 0.0058 0.0029 0.0012 0.0044 0.0080 0.0031 0.0026 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs763948921 7 102296747 G A - SPDYE2B 48334 Speedy/RINGO cell cycle regulator family member E2B NM_001166339.1 1 1983 1209 NP_001159811.1 A6NHP3 substitution synonymous exon GRCh37 102296747 102296747 Chr7(GRCh37):g.102296747G>A 663 663 NM_001166339.1:c.663G>A p.Ser221= p.Ser221Ser 5 -7 5' 94.6745 X.23 0.997884 4.78748 94.6745 X.23 0.998289 4.71338 0.000135286 Cell cycle regulatory protein, Spy1 rs763948921 yes no Frequency 1 0.000000 0 0.003222 0.003812 0.002163 0.003614 0.005727 0.007958 0.001225 0.002861 0.004326 0.007958 206 38 24 6 45 53 29 4 7 63938 9968 11098 1660 7858 6660 23678 1398 1618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 206 38 24 6 45 53 29 4 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.087 -1.651 S Ser TCG 0.056 S Ser TCA 0.148 221 208 PASS . . . . . . . . . . . . SPDYE2B:uc011kle.2:exon5:c.G663A:p.S221S . . . 0.18421052 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.5360 . . . . . . . . 1.039e-03 . . . 0.0081 0.0068 0.0061 0.0122 0.025 0.0030 0 0.0087 0.0081 0.0086 0.0070 0.0139 0.0110 0.0040 0 0.0088 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000173678 SPDYE2B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs763948921 . . . . . . ID\x3dCOSM3083538\x3bOCCURENCE\x3d1(breast) . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0032 0.0022 0.0036 0.0058 0.0029 0.0012 0.0044 0.0080 0.0031 0.0026 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 102300391 G A - POLR2J2 23208 Polymerase (RNA) II (DNA directed) polypeptide J2 NM_032959.5 -1 1987 348 NP_116581.3 Q9GZM3 substitution intron GRCh37 102300391 102300391 Chr7(GRCh37):g.102300391G>A *54+6133 *54+6133 NM_032959.5:c.*54+6133C>T p.? p.? 4 4 609881 6133 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 transition C T C>T 0.071 0.125 207 PASS . . . . . . . . . . . . SPDYE2B:uc011kle.2:exon7:c.G1010A:p.R337H . . . 0.1780822 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.162 . @ . . . . . 1 0.229 . . 146.0 . . . . . . . . . . -1.2714 -1.356 -1.271 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.39 182 ENSG00000173678 SPDYE2B . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.148 . . 0.216 . . . 0.170 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.243 . . 0.179 . . . . . . 1 0.453 . . . . . . . 0.064 . HET 0.05 . . . . . . . . . . . . . . . . . . . 0.190000 A6NHP3 . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.107 0.107000 . . 0.190000 . . 1.0E-207 0.025 0.199 . 0.117 0.161 . 0.172 . 0.256 0.107 0.000 . rs2960249 rs2960249 rs2960249 rs2960249 1 1538 10 1/0 0,217,255 +. 7 102300391 G A - SPDYE2B 48334 Speedy/RINGO cell cycle regulator family member E2B NM_001166339.1 1 1983 1209 NP_001159811.1 A6NHP3 substitution missense exon GRCh37 102300391 102300391 Chr7(GRCh37):g.102300391G>A 1010 1010 NM_001166339.1:c.1010G>A p.Arg337His p.Arg337His 7 -140 5' 92.583 10.0326 0.987705 XII.94 92.583 10.0326 0.987705 XII.94 0 transition G A G>A 0.071 0.125 R Arg CGT 0.082 H His CAT 0.413 337 24 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Not scored 0.0 0.0 207 PASS . . . . . . . . . . . . SPDYE2B:uc011kle.2:exon7:c.G1010A:p.R337H . . . 0.1780822 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.162 . @ . . . . . 1 0.229 . . 146.0 . . . . . . . . . . -1.2714 -1.356 -1.271 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.39 182 ENSG00000173678 SPDYE2B . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.148 . . 0.216 . . . 0.170 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.243 . . 0.179 . . . . . . 1 0.453 . . . . . . . 0.064 . HET 0.05 . . . . . . . . . . . . . . . . . . . 0.190000 A6NHP3 . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.107 0.107000 . . 0.190000 . . 1.0E-207 0.025 0.199 . 0.117 0.161 . 0.172 . 0.256 0.107 0.000 . rs2960249 rs2960249 rs2960249 rs2960249 1 1538 10 1/0 0,217,255 +. 7 103301862 T G - RELN 9957 Reelin NM_005045.3 -1 11571 10383 NP_005036.2 P78509 substitution missense exon GRCh37 103301862 103301862 Chr7(GRCh37):g.103301862T>G 1402 1402 NM_005045.3:c.1402A>C p.Thr468Pro p.Thr468Pro 12 600514 -40 5' 86.9112 X.85 0.995544 4.41187 86.9112 X.85 0.995544 4.27141 0 transversion A C A>C 1.000 4.564 T Thr ACT 0.243 P Pro CCT 0.283 468 13 11 Tetraodon -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Deleterious 0 IV.32 bad 1.726E-6 1.713E-5 187 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.558 . . 46.0 . . . . . . . . . . 0.3848 0.361 0.385 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.275 . . exonic exonic exonic . . 0.746 @ . . . . . . ENSG00000189056 RELN RELN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.501 0.027 . . 37 . 0.446 . . 0.387 . . . 0.263 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 0 0.335 . . . . . 0.730 . 0.976 . LowAF 0.04 . . . . . . . . . . . . . 15.2296 . . 5.III 5.III . 0.080000 . . . Name\x3dnsv831085 . . 0.397 . . 5.III . . . . . . . . . . . . . . . . . . . 0.439 . 2.004 2.004000 . . 0.080000 . . 1.0E-187 1.000 0.715 . 0.232 0.951 . 0.620 . 0.601 2.004 0.991 . . . . . 1 1538 10 1.I 0,0,0 +. 7 105910731 C T - NAMPT 30092 Nicotinamide phosphoribosyltransferase NM_005746.2 -1 4582 1476 NP_005737.1 P43490 substitution intron GRCh37 105910731 105910731 Chr7(GRCh37):g.105910731C>T 448-973 448-973 NM_005746.2:c.448-973G>A p.? p.? 5 4 608764 -973 3' 93.1434 3.17509 0.350129 1.61909 93.1434 3.17509 0.350129 1.61909 0 transition G A G>A 0.472 0.528 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||NAMPT|mRNA|CODING|NM_005746|) . . . . . . . 0.6068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000105835 NAMPT NAMPT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv888937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs78330939 7 107315373 C T - SLC26A4 8818 Solute carrier family 26 member 4 NM_000441.1 1 4930 2343 NP_000432.1 O43511 substitution intron GRCh37 107315373 107315373 Chr7(GRCh37):g.107315373C>T 601-17 601-17 NM_000441.1:c.601-17C>T p.? p.? 6 5 605646 -17 3' 79.4638 8.14466 0.972939 9.41683 79.4638 7.99636 0.980679 9.24685 -0.00341798 rs78330939 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.003100 0.002000 0.004000 0.001400 0.002587 0.001000 0.000988 0.000099 0.001378 0.001949 0.004307 0.000349 0.002787 0.004307 716 24 34 1 26 60 544 9 18 276754 24010 34418 10150 18870 30780 126298 25770 6458 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 706 24 34 1 26 60 534 9 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8574 4403 12977 26 3 29 0.00302326 0.00068089 0.00222974 0.00302326 0.00068089 0.00222974 151 transition C T C>T 0.000 0.367 255 PASS . 0.0023 0.0028 0.0017 0.004 . 0.002 0.0014 0.002 0.004 0.0031 . . . . . 0.4473684 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||SLC26A4|mRNA|CODING|NM_000441|) 0.0007 0.0022 0.003 0.0007 0.0022 0.003 . 0.1680 . . . . . . . . 2.533e-03 . . . 0.0006 0.0025 0.0009 0.0011 0 0.0041 0.0014 0.0020 0.0007 0.0023 0.0009 0.0014 0 0.0034 0.0014 0.0020 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.47 0.37 182 ENSG00000091137 SLC26A4 SLC26A4 . . . . . . 168 0.00258557 64976 158 0.00263395 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78330939 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.002230 . . . . . 0.0007 0.0025 0.0010 0.0001 0.0013 0.0003 0.0041 0.0026 0.0019 0.0016 0.0035 0.0024 0 0.0025 0.0006 0.0055 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs78330939 rs78330939 1 1538 10 1/0 0,255,255 +. 7 107575792 GTTTTTTTTTTTTT G - LAMB1 6486 Laminin, beta 1 NM_002291.2 -1 5846 5361 NP_002282.2 P07942 deletion intron GRCh37 107575793 107575805 Chr7(GRCh37):g.107575793_107575805del 4188+55 4188+67 NM_002291.2:c.4188+55_4188+67del p.? p.? 27 27 150240 55 5' 86.1635 9.33191 0.987323 II.84 86.1635 9.33191 0.987323 4.26897 0 rs200599445 no no 0 0.000000 0 AAAAAAAAAAAAA 255 Pass . . . . . . . . . . . . . . . . 0.71794873 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . INTRON(MODIFIER||||LAMB1|mRNA|CODING|NM_002291|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000091136 LAMB1 LAMB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200599445 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200599445 rs200599445 1 1538 10 1.I 0,10,14 +rs201373619 7 107575801 T C - LAMB1 6486 Laminin, beta 1 NM_002291.2 -1 5846 5361 NP_002282.2 P07942 substitution intron GRCh37 107575801 107575801 Chr7(GRCh37):g.107575801T>C 4188+59 4188+59 NM_002291.2:c.4188+59A>G p.? p.? 27 27 150240 59 5' 86.1635 9.33191 0.987323 II.84 86.1635 9.33191 0.987323 3.04817 0 rs201373619 yes no Frequency/1000G 2 T 0.000000 0 0.126398 0.032500 0.108400 0.159700 0.187900 0.193100 transition A G A>G 0.000 0.205 232 PASS . . . . . 0.033 0.13 0.19 0.16 0.19 0.11 . . . . . 0.12820514 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||LAMB1|mRNA|CODING|NM_002291|) . . . . . . . -0.2507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1264 . . . 0.36 0.27 182 ENSG00000091136 LAMB1 LAMB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201373619 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . rs201373619 rs201373619 1 1538 10 1/0 0,255,255 +rs537372267 7 107575805 T G - LAMB1 6486 Laminin, beta 1 NM_002291.2 -1 5846 5361 NP_002282.2 P07942 substitution intron GRCh37 107575805 107575805 Chr7(GRCh37):g.107575805T>G 4188+55 4188+55 NM_002291.2:c.4188+55A>C p.? p.? 27 27 150240 55 5' 86.1635 9.33191 0.987323 II.84 86.1635 9.33191 0.987323 3.21952 0 rs537372267 yes no Frequency/1000G 2 T 0.000000 0 0.127196 0.034800 0.109400 0.159700 0.187900 0.193100 0.000879 0.002683 0.003460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003460 21 19 2 0 0 0 0 0 0 23896 7082 578 274 1530 0 12200 1570 662 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 19 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion A C A>C 0.000 -0.117 255 PASS . . . . . 0.035 0.13 0.19 0.16 0.19 0.11 . . . . . 0.19444445 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||LAMB1|mRNA|CODING|NM_002291|) . . . . . . . -0.1841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1272 . . . . . . ENSG00000091136 LAMB1 LAMB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs537372267 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831088 . . . . . . . . . . . . . . . 0.0027 0.0009 0.0035 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 110303566 G A - IMMP2L 14598 Inner mitochondrial membrane peptidase subunit 2 NM_001350961.1 -1 1293 612 NP_001337890.1 substitution 3'UTR GRCh37 110303566 110303566 Chr7(GRCh37):g.110303566G>A *92 *92 NM_001350961.1:c.*92C>T p.? p.? 8 605977 212 3' 71.1005 6.25042 0.015512 4.54105 71.1005 6.25042 0.015512 4.54105 0 0.000032 0.000000 0.000000 0.000000 0.000618 0.000000 0.000000 0.000000 0.000000 0.000618 1 0 0 0 1 0 0 0 0 30964 8732 836 302 1618 0 15008 3490 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.51428574 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.2160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000184903 IMMP2L IMMP2L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.I . . . . . . . . . 0 3.23e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 116655046 C G - ST7 11351 Suppression of tumorigenicity 7 NM_021908.2 1 2899 1758 NP_068708.1 Q9NRC1 substitution intron GRCh37 116655046 116655046 Chr7(GRCh37):g.116655046C>G 151+61301 151+61301 NM_021908.2:c.151+61301C>G p.? p.? 1 1 600833 61301 5' 94.9812 11.083 0.998826 XII.23 94.9812 11.083 0.998826 XII.23 0 transversion C G C>G 0.126 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.40816328 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . I.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . . . . ENSG00000004866 ST7 ST7 . uc003viq.3:c.-10C>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs748187611 7 122000964 G T - CADPS2 16018 Ca++-dependent secretion activator 2 NM_001167940.1 -1 6066 3903 NP_001161412.1 substitution intron GRCh37 122000964 122000964 Chr7(GRCh37):g.122000964G>T 3483+20 3483+20 NM_001167940.1:c.3483+20C>A p.? p.? 26 26 609978 20 5' 78.1641 8.59132 0.945108 2.22878 78.1641 8.59132 0.945108 1.86716 0 rs748187611 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000264 0.000000 0.000000 0.000000 0.000264 8 0 0 0 0 8 0 0 0 244068 15152 33352 9798 17130 30340 110640 22232 5424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 0 PASS 55 Exomes transversion C A C>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.37209302 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 0.5709 . . . . . . . . 4.005e-05 . . . 0 6.057e-05 0 0 0 0 0 0.0003 0 5.184e-05 0 0 0 0 0 0.0003 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000240499 CADPS2 CADPS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748187611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.278e-05 0 0 0 0 0 0 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs184260455 7 123222137 T C - NDUFA5 7688 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 NM_001291304.1 -1 5776 549 NP_001278233.1 substitution splice site GRCh37 123222137 123222137 Chr7(GRCh37):g.123222137T>C 86-2 86-2 NM_001291304.1:c.86-2A>G p.? p.? 3 2 601677 -2 3' 91.656 12.0655 0.983146 8.83411 0 0 0 0 -1 rs184260455 yes no Frequency/1000G 2 T 0.000000 0 0.013578 0.001500 0.041900 0.001000 0.013900 0.014400 0.006561 0.001489 0.010766 0.033113 0.000627 0.000000 0.010397 0.000859 0.011224 0.033113 203 13 9 10 1 0 156 3 11 30940 8730 836 302 1594 0 15004 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 203 13 9 10 1 0 156 3 11 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition A G A>G 0.024 0.528 255 PASS 0.002 0.01 0.01 0.0017 0.01 0.0015 0.014 0.014 0.001 0.014 0.042 . . . . . 0.45454547 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 44.0 . . . . . . . . . . 0.1285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic splicing . . . 0.0136 . . . 0.15 0.25 182 ENSG00000146809 . NDUFA5 . dist\x3d24179\x3bdist\x3d19784 NM_001291304:exon3:c.86-2A>G . . . 709 0.0109117 64976 633 0.0105525 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs184260455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0066 0.0108 0.0331 0.0006 0.0009 0.0104 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs184260455 rs184260455 1 1538 10 1/0 0,255,255 +. 7 127230941 A AG - ARF5 658 ADP-ribosylation factor 5 NM_001662.3 1 1096 543 NP_001653.1 P84085 duplication intron GRCh37 127230943 127230944 Chr7(GRCh37):g.127230943dup 331-74 331-74 NM_001662.3:c.331-74dup p.? p.? 5 4 103188 -73 3' 84.6869 9.66894 0.994035 13.2477 84.6869 9.66894 0.994035 13.4832 0 0.000129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000860 0.000000 0.000860 4 0 0 0 0 0 1 3 0 30926 8718 838 302 1622 0 14978 3490 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.47474748 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000004059 ARF5 ARF5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831122 . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0009 6.676e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,32 +rs62481073 7 127894849 C T - LEP 6553 Leptin NM_000230.2 1 3427 504 NP_000221.1 P41159 substitution 3'UTR GRCh37 127894849 127894849 Chr7(GRCh37):g.127894849C>T *33 *33 NM_000230.2:c.*33C>T p.? p.? 3 164160 393 3' 74.69 6.94845 0.911794 6.16563 74.69 6.94845 0.911794 6.16563 0 rs62481073 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000800 0.000000 0.000000 0.003000 0.001400 0.002974 0.000690 0.001957 0.000300 0.000000 0.000750 0.004585 0.005124 0.003162 0.005124 786 16 67 3 0 23 567 90 20 264296 23192 34242 10016 18634 30652 123668 17566 6326 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000049 0.000000 0.000000 3 0 0 0 0 0 3 0 0 780 16 67 3 0 23 561 90 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4396 12957 31 2 33 0.00360801 0.000454752 0.00254042 0.00360801 0.000454752 0.00254042 19 CR052436 Lower pulse pressure and CIMT, association with 15937081 DP transition C T C>T 0.000 -1.489 255 PASS 0.002 0.0014 . . 0.0026 0.0008 0.001 0.0014 . 0.003 . . . . . . 0.41304347 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . UTR_3_PRIME(MODIFIER||||LEP|mRNA|CODING|NM_000230|NM_000230.ex.3) 0.0005 0.0025 0.0036 0.0005 0.0025 0.0036 . -0.1776 . . . . . . . . 2.606e-03 . . . 0.0010 0.0026 0.0016 0 0.0075 0.0038 0.0060 0.0009 0.0009 0.0026 0.0016 0 0.0068 0.0035 0.0074 0.0009 . . . . . . UTR3 UTR3 UTR3 . . . 0.0010 . . . 0.76 0.94 182 ENSG00000174697 LEP LEP ENST00000308868:c.*33C>T . NM_000230:c.*33C>T . . . 225 0.00346282 64976 220 0.00366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62481073 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv33413 0.002540 . . . . . 0.0005 0.0030 0.0019 0.0003 0 0.0051 0.0047 0.0032 0.0008 0.0010 0.0028 0.0036 0 0 0.0052 0.0036 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0036 rs62481073 rs62481073 rs62481073 rs62481073 1 1538 10 1/0 0,255,255 +rs545236590 7 128291683 C T - LINC01000 38541 Long intergenic non-protein coding RNA 1000 NR_024368.1 1 10263 0 substitution exon GRCh37 128291683 128291683 Chr7(GRCh37):g.128291683C>T 894 894 NR_024368.1:n.894C>T 5 441 3' 81.3722 4.00422 0.702295 0 81.3722 4.00422 0.702295 0 0 Cryptic Acceptor Strongly Activated 128291690 0.26962 0.032884 76.4308 0.98978 0.057449 77.9414 rs545236590 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.003697 0.000621 0.002666 0.010495 0.000000 0.002383 0.005151 0.003118 0.005701 0.010495 545 9 62 75 0 49 301 25 24 147418 14490 23256 7146 11294 20566 58438 8018 4210 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000103 0.000000 0.000000 3 0 0 0 0 0 3 0 0 539 9 62 75 0 49 295 25 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.984 -0.279 255 PASS . . . . . . 0.0004 . . 0.002 . . FLJ45340:uc010lll.2:exon5:c.C444T:p.H148H . . . 0.42028984 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H298|LINC01000|Non-coding_transcript|NON_CODING|NR_024368|NR_024368.ex.5) . . . . . . . -0.2679 . . . . . . . . 3.289e-03 . . . 0 0.0049 0 0 . 0.0118 0.0116 0.0025 0 0.0047 0 0 . 0.0117 0.0119 0.0025 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0004 . . . . . . ENSG00000243302 FLJ45340 LINC01000 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs545236590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0039 0.0027 0.0102 0 0.0033 0.0056 0.0059 0.0024 0.0008 0.0028 0.0024 0.0172 0 0.0029 0.0038 0.0052 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 128294489 G T - LINC01000 38541 Long intergenic non-protein coding RNA 1000 NR_024368.1 1 10263 0 substitution exon GRCh37 128294489 128294489 Chr7(GRCh37):g.128294489G>T 3700 3700 NR_024368.1:n.3700G>T 5 3247 3' 81.3722 4.00422 0.702295 0 81.3722 4.00422 0.702295 0 0 0.008628 0.007963 0.010000 0.000000 0.019459 0.000000 0.009223 0.004817 0.006158 0.019459 221 58 7 0 23 0 113 15 5 25614 7284 700 270 1182 0 12252 3114 812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 221 58 7 0 23 0 113 15 5 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion G T G>T 0.551 -1.732 233 PASS . . . . . . . . . . . . . . . . 0.2580645 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 31.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V1234L|LINC01000|Non-coding_transcript|NON_CODING|NR_024368|NR_024368.ex.5) . . . . . . . -0.8440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000243679 FLJ45340 LINC01000 . uc010lll.2:c.*2134G>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0080 0.0086 0.01 0 0.0195 0.0048 0.0092 0.0062 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs146397482 7 128446359 C T - CCDC136 22225 Coiled-coil domain containing 136 NM_022742.4 1 4221 3465 NP_073579.4 Q96JN2 substitution synonymous exon GRCh37 128446359 128446359 Chr7(GRCh37):g.128446359C>T 1158 1158 NM_022742.4:c.1158C>T p.Asn386= p.Asn386Asn 8 611902 69 3' 77.2703 8.1575 0.73006 7.69699 77.2703 8.1575 0.73006 7.43617 0 rs146397482 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002328 0.000524 0.001294 0.000000 0.000000 0.000271 0.003983 0.002315 0.003238 0.003983 557 11 39 0 0 7 426 55 19 239300 20992 30150 9424 16266 25874 106966 23760 5868 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 2 0 0 0 0 0 2 0 0 553 11 39 0 0 7 422 55 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8254 3856 12110 30 4 34 0.00362144 0.00103627 0.00279974 0.00362144 0.00103627 0.00279974 32 transition C T C>T 0.000 -1.409 N Asn AAC 0.536 N Asn AAT 0.464 386 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . ENSG00000128596:ENST00000297788:exon8:c.C1158T:p.N386N . CCDC136:NM_022742:exon8:c.C1158T:p.N386N . . 0.5714286 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 21.0 . . . 0.001 0.0028 0.0036 0.001 0.0028 0.0036 . -1.1448 . . . . . . . . 1.979e-03 . . . 0.0007 0.0033 0.0023 0 0.0112 0.0055 0.0038 0.0002 0.0006 0.0038 0.0025 0 0.0071 0.0065 0.0040 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.54 0.31 182 ENSG00000128596 CCDC136 CCDC136 . . . . . . 203 0.00312423 64976 200 0.00333411 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs146397482 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 4.0304 6.31E-4 ENST00000494552 V.71 -9.66 . . . . . . 0.002800 . . . . . 0.0002 0.0023 0.0012 0 0 0.0022 0.0040 0.0031 0.0003 0.0009 0.0028 0.0036 0 0 0.0029 0.0041 0.0041 . . . . -1.134 -1.134000 . . . . . 1.0E-255 . . . . . . . . . -1.134 . 0.004 . . rs146397482 rs146397482 1 1538 10 1/0 0,255,255 +rs535087360 (chr7:128524915 A/C) 7 128524915 A C Not on a known gene +rs143525584 (chr7:128525371 A/T) 7 128525371 A T Not on a known gene +. (chr7:128533514 T/TC) 7 128533514 T TC Not on a known gene +rs113806178 7 128587374 G A - IRF5 6120 Interferon regulatory factor 5 NM_001098629.2 1 2893 1545 NP_001092099.1 substitution missense exon GRCh37 128587374 128587374 Chr7(GRCh37):g.128587374G>A 572 572 NM_001098629.2:c.572G>A p.Arg191Gln p.Arg191Gln 6 607218 91 3' 74.6537 8.39692 0.691759 3.79609 74.6537 8.39692 0.691759 3.79609 0 New Acceptor Site 128587376 4.30521 0.079254 75.7379 rs113806178 yes no Frequency/1000G 2 G 0.000000 0 0.000035 0.000000 0.000030 0.000000 0.000055 0.000067 0.000035 0.000041 0.000000 0.000067 9 0 1 0 1 2 4 1 0 258258 22246 33370 9570 18194 29740 114680 24376 6082 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 1 0 1 2 4 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1319028|COSM1319028|COSM1319028|COSM1319028|COSM1319028 Thyroid|Ovary|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system 0.002677|0.001179|0.012102|0.000556|0.000416 747|848|2231|3598|2405 transition G A G>A 0.118 -1.489 R Arg CGG 0.207 Q Gln CAG 0.744 191 12 2 Chimp 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Deleterious 0 IV.32 195 PASS 0.32 0.29 0.24 0.26 0.31 . . . . . . . . . . . 0.125 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.061 . @ . . . . . 1 0.101 . . 48.0 . . . . . . . . . . -1.8335 -1.901 -1.833 c . . . . . . . . . 0 0.0002 0.0002 0.0008 0 0 0 0.0005 0 0.0002 0.0002 0.0006 0 0 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.972 . . exonic exonic exonic . . . @ . ENSG00000128604.14|ENSG00000128604.14|ENSG00000128604.14|ENSG00000128604.14 Artery_Tibial|Colon_Transverse|Nerve_Tibial|Whole_Blood 0.39 0.61 182 ENSG00000128604 IRF5 IRF5 . . . 0.992 0.327 . . . . . . . Uncertain_significance . 0 . 0.002 . . . . D 0.893 0.256 . . 37 . 0.000 . . 0.613 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.124 . . . . . . . 0.175 . LowAF 0.58 rs113806178 0.065 0.051 . . . . . 0.2875457875457875 0.3150406504065041 0.2430939226519337 0.25874125874125875 0.31266490765171506 . 0.196 . . . . 0.590000 . . . . . . 0.101 . . . 0 3.514e-05 3.074e-05 0 6.027e-05 4.782e-05 3.005e-05 0 6.725e-05 0 3.266e-05 0 0 0 0 6.739e-05 0 . . 0.406 . -1.505 -1.505000 . . 0.590000 . . 9.999999999999999E-196 0.038 0.207 . 0.176 0.021 . 0.025 . 0.012 -1.505 -0.628 0.32 . . rs113806178 rs113806178 1 1538 10 1.I 0,0,0 +rs149194697 (chr7:128802894 T/C) 7 128802894 T C Not on a known gene +rs372339905 7 129845149 C T - TMEM209 21898 Transmembrane protein 209 NM_032842.3 -1 3545 1686 NP_116231.2 Q96SK2 substitution intron GRCh37 129845149 129845149 Chr7(GRCh37):g.129845149C>T 3+64 3+64 NM_032842.3:c.3+64G>A p.? p.? 1 1 64 5' 76.0346 8.26729 0.572753 5.63989 76.0346 8.26729 0.572753 5.90698 0 rs372339905 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.003939 0.000343 0.000000 0.003311 0.000000 0.000000 0.006598 0.004296 0.004073 0.006598 122 3 0 1 0 0 99 15 4 30974 8734 838 302 1622 0 15004 3492 982 0.008197 0.000000 0.000000 0.000000 0.000000 0.000000 0.010101 0.000000 0.000000 1 0 0 0 0 0 1 0 0 120 3 0 1 0 0 97 15 4 0 0 0 0 0 0 0 0 0 PASS 42 Genomes 3172 1382 4554 10 2 12 0.00314268 0.00144509 0.00262812 0.00314268 0.00144509 0.00262812 115 transition G A G>A 0.000 -0.360 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.46464646 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . 0.0014 0.0026 0.0031 0.0014 0.0026 0.0031 . I.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . 0.0002 . . . 0.66 0.31 182 ENSG00000240571 TMEM209 TMEM209 . . . . . . 155 0.0023855 64976 154 0.00256727 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372339905 . . . . . . . . . . . . . . . . . . . . . . . 0.002628 . . . . . . . . . . . . . . 0.0003 0.0039 0 0.0033 0 0.0043 0.0066 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0031 . . rs372339905 rs372339905 1 1538 10 1/0 0,255,255 +rs527373566 7 129945580 G A - CPA4 15740 Carboxypeptidase A4 NM_016352.3 1 2817 1266 NP_057436.2 Q9UI42 substitution intron GRCh37 129945580 129945580 Chr7(GRCh37):g.129945580G>A 487-76 487-76 NM_016352.3:c.487-76G>A p.? p.? 6 5 607635 -76 3' 83.6826 11.1716 0.962277 XI.55 83.6826 11.1716 0.962277 11.0605 0 rs527373566 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.003680 0.000229 0.000000 0.000000 0.000000 0.000000 0.006396 0.003436 0.004073 0.006396 114 2 0 0 0 0 96 12 4 30976 8730 838 302 1622 0 15010 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 114 2 0 0 0 0 96 12 4 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.906 1.820 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.5217391 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 1.1105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000128510 CPA4 CPA4 . . . . . . 81 0.00124661 64976 80 0.00133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs527373566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.62 . . . . . . . . . 0.0002 0.0037 0 0 0 0.0034 0.0064 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 134612759 G GT - CALD1 1441 Caldesmon 1 NM_033138.3 1 5232 2382 NP_149129.2 Q05682 duplication intron GRCh37 134612761 134612762 Chr7(GRCh37):g.134612761dup 72-744 72-744 NM_033138.3:c.72-744dup p.? p.? 4 3 114213 -743 3' 83.5423 8.67854 0.368113 7.26705 83.5423 8.67854 0.368113 7.26705 0 rs11438725 yes no Frequency/1000G 2 0.000000 0 0.999201 0.999200 0.999000 1.000000 0.998000 1.000000 0.999976 1.000000 0.999814 1.000000 1.000000 1.000000 0.999975 1.000000 1.000000 1.000000 83010 9378 5385 5016 2500 9884 40653 7828 2366 83012 9378 5386 5016 2500 9884 40654 7828 2366 0.999952 1.000000 0.999629 1.000000 1.000000 1.000000 0.999951 1.000000 1.000000 41504 4689 2692 2508 1250 4942 20326 3914 1183 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes T 255 Pass . . . . . 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29 . . . . . . . . . . . . . . . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000122786 CALD1 CALD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11438725 0.109 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 1 1.0000 0.9984 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.11 . rs58197245 rs11438725 rs11438725 1 1538 255 1.I 0,0,255 +rs34585297 7 138269570 G T - TRIM24 11812 Tripartite motif-containing 24 NM_015905.2 1 4005 3153 NP_056989.2 O15164 substitution missense exon GRCh37 138269570 138269570 Chr7(GRCh37):g.138269570G>T 3027 3027 NM_015905.2:c.3027G>T p.Arg1009Ser p.Arg1009Ser 19 603406 84 3' 88.4896 9.61864 0.909976 3.27788 88.4896 9.61864 0.909976 3.27788 0 Cryptic Acceptor Strongly Activated 138269584 1.70892 0.002547 76.0836 2.23552 0.009388 81.2662 rs34585297 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.002622 0.001208 0.003260 0.000099 0.000000 0.001536 0.003877 0.000698 0.004340 0.003877 725 29 112 1 0 47 490 18 28 276556 24002 34352 10132 18830 30604 126402 25782 6452 0.000022 0.000000 0.000000 0.000000 0.000000 0.000065 0.000032 0.000000 0.000000 3 0 0 0 0 1 2 0 0 719 29 112 1 0 45 486 18 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8571 4397 12968 27 3 30 0.00314027 0.000681818 0.00230805 0.00314027 0.000681818 0.00230805 53 COSM88015|COSM88016 Central nervous system|Central nervous system 0.000407|0.000407 2460|2460 transversion G T G>T 0.291 -0.037 R Arg AGG 0.207 S Ser AGT 0.149 1009 11 7 Mouse -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 243.06 21.IV Tolerated 0.06 III.44 good 4.76E-2 0.01422 255 PASS . 0.0009 . . 0.0026 . 0.0008 . . 0.004 . . . . . . 0.6111111 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.261 . @ . . . . . 1 0.262 . . 18.0 . . . 0.0007 0.0023 0.0031 0.0007 0.0023 0.0031 . -0.5675 -0.440 -0.567 c . . . . . 2.439e-03 . . . 0.0011 0.0023 0.0026 0 0.0005 0.0033 0.0042 0.0015 0.0013 0.0025 0.0025 0 0.0006 0.0035 0.0044 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.759 . . exonic exonic exonic . . 0.294 0.0008 . . . 0.5 0.35 182 ENSG00000122779 TRIM24 TRIM24 . . . 0.618 0.218 . 136 0.00209308 64976 132 0.00220051 59986 Uncertain_significance . 0 . 0.330 . . . . T 0.397 0.018 . . 37 . 0.556 . . 0.485 . . . 0.124 0.286 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.129 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 0.180 . . . . . 0.369 . 0.241 . HET 0.12 rs34585297 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IX.16 8.04E-4 . V.85 II.52 . 0.310000 . . . . 0.002308 . 0.187 . . II.52 0.0011 0.0026 0.0031 0.0001 0 0.0007 0.0038 0.0037 0.0015 0.0014 0.0029 0.0084 0 0 0.0006 0.0041 0.0082 . . 0.522 . 0.746 0.746000 . . 0.310000 . . 1.0E-255 0.081 0.222 . 0.653 0.984 . 0.163 . 0.213 0.746 0.069 0.0031 rs34585297 rs34585297 rs34585297 rs34585297 1 1538 10 1/0 0,255,255 +rs371453843 (chr7:142008534 C/T) 7 142008534 C T Not on a known gene +rs375410790 (chr7:142008535 G/A) 7 142008535 G A Not on a known gene +rs368645176 (chr7:142008536 T/C) 7 142008536 T C Not on a known gene +rs561888315 (chr7:142008635 C/A) 7 142008635 C A Not on a known gene +rs756720602 (chr7:142008636 G/A) 7 142008636 G A Not on a known gene +rs755222580 (chr7:142008638 C/G) 7 142008638 C G Not on a known gene +rs779263913 (chr7:142008639 A/G) 7 142008639 A G Not on a known gene +. (chr7:142032393 G/C) 7 142032393 G C Not on a known gene +rs760071537 (chr7:142032394 G/A) 7 142032394 G A Not on a known gene +. (chr7:142032395 A/G) 7 142032395 A G Not on a known gene +. (chr7:142032400 G/C) 7 142032400 G C Not on a known gene +rs758775853 (chr7:142032411 G/A) 7 142032411 G A Not on a known gene +. (chr7:142032417 T/G) 7 142032417 T G Not on a known gene +rs781407641 (chr7:142032421 C/A) 7 142032421 C A Not on a known gene +. (chr7:142032429 G/C) 7 142032429 G C Not on a known gene +rs78118526 (chr7:142032646 G/A) 7 142032646 G A Not on a known gene +rs552355858 (chr7:142119877 G/T) 7 142119877 G T Not on a known gene +. (chr7:142119878 T/C) 7 142119878 T C Not on a known gene +. (chr7:142119882 A/G) 7 142119882 A G Not on a known gene +. (chr7:142119998 C/T) 7 142119998 C T Not on a known gene +. (chr7:142120003 T/C) 7 142120003 T C Not on a known gene +. (chr7:142120005 A/G) 7 142120005 A G Not on a known gene +. (chr7:142120016 G/GGC) 7 142120016 G GGC Not on a known gene +. (chr7:142120021 G/GTGTT) 7 142120021 G GTGTT Not on a known gene +. (chr7:142120023 ATGACTC/A) 7 142120023 ATGACTC A Not on a known gene +rs368651804 (chr7:142120049 G/A) 7 142120049 G A Not on a known gene +rs768713788 (chr7:142120058 C/T) 7 142120058 C T Not on a known gene +rs758694947 (chr7:142131831 G/A) 7 142131831 G A Not on a known gene +rs776911163 (chr7:142139315 G/C) 7 142139315 G C Not on a known gene +rs766315958 (chr7:142139335 G/T) 7 142139335 G T Not on a known gene +. (chr7:142139336 T/C) 7 142139336 T C Not on a known gene +rs754756268 (chr7:142139339 G/A) 7 142139339 G A Not on a known gene +. (chr7:142139340 A/G) 7 142139340 A G Not on a known gene +rs771383943 (chr7:142139349 G/A) 7 142139349 G A Not on a known gene +. (chr7:142139357 C/T) 7 142139357 C T Not on a known gene +rs776576104 (chr7:142139383 T/C) 7 142139383 T C Not on a known gene +. (chr7:142139386 G/A) 7 142139386 G A Not on a known gene +. (chr7:142139393 C/T) 7 142139393 C T Not on a known gene +rs865799401 (chr7:142143839 G/A) 7 142143839 G A Not on a known gene +rs764375904 (chr7:142197962 G/T) 7 142197962 G T No Alamut gene - other known genes: TRBV11-2 TRBV11-2 +rs796725387 (chr7:142197964 T/C) 7 142197964 T C No Alamut gene - other known genes: TRBV11-2 TRBV11-2 +rs796830862 (chr7:142197965 C/A) 7 142197965 C A No Alamut gene - other known genes: TRBV11-2 TRBV11-2 +rs776089634 (chr7:142223949 A/G) 7 142223949 A G Not on a known gene +rs764528462 (chr7:142223951 A/T) 7 142223951 A T Not on a known gene +rs774802249 (chr7:142223952 C/T) 7 142223952 C T Not on a known gene +. (chr7:142223953 T/C) 7 142223953 T C Not on a known gene +rs796420354 (chr7:142224021 G/T) 7 142224021 G T Not on a known gene +rs797007401 (chr7:142224022 C/T) 7 142224022 C T Not on a known gene +rs796152597 (chr7:142224023 A/G) 7 142224023 A G Not on a known gene +. (chr7:142224209 T/G) 7 142224209 T G Not on a known gene +rs796750138 (chr7:142224215 A/T) 7 142224215 A T Not on a known gene +rs757581257 (chr7:142224235 G/C) 7 142224235 G C Not on a known gene +rs757384002 (chr7:142231794 C/T) 7 142231794 C T Not on a known gene +rs371921343 (chr7:142231795 G/C) 7 142231795 G C Not on a known gene +. (chr7:142231796 C/T) 7 142231796 C T Not on a known gene +. (chr7:142231799 A/G) 7 142231799 A G Not on a known gene +. (chr7:142231800 G/A) 7 142231800 G A Not on a known gene +. (chr7:142242299 G/A) 7 142242299 G A Not on a known gene +. (chr7:142242300 A/G) 7 142242300 A G Not on a known gene +rs761309706 (chr7:142242309 C/T) 7 142242309 C T Not on a known gene +rs760735453 (chr7:142242603 A/T) 7 142242603 A T Not on a known gene +rs762758399 (chr7:142242607 C/G) 7 142242607 C G Not on a known gene +rs749994557 (chr7:142242616 T/C) 7 142242616 T C Not on a known gene +rs755666140 (chr7:142242617 G/A) 7 142242617 G A Not on a known gene +. (chr7:142242631 G/A) 7 142242631 G A Not on a known gene +. (chr7:142242632 T/G) 7 142242632 T G Not on a known gene +rs762728201 (chr7:142247497 G/C) 7 142247497 G C Not on a known gene +. (chr7:142247503 G/GT) 7 142247503 G GT Not on a known gene +rs375261945 7 142460148 T C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460148 142460148 Chr7(GRCh37):g.142460148T>C 497-134 497-134 ENST00000486171.1:c.497-134T>C p.? p.? 5 4 276000 -134 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.51 0 rs375261945 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.003800 0.000000 0.000000 0.000000 0.000000 transition T C T>C 0.000 -1.328 255 PASS . . . . . 0.0038 0.001 . . . . . . . . . 0.33050847 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0010 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375261945 rs375261945 1 1538 10 1/0 0,237,255 +rs375261945 7 142460148 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460148 142460148 Chr7(GRCh37):g.142460148T>C 497-134 497-134 NM_001303414.1:c.497-134T>C p.? p.? 5 4 601564 -134 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.81 0 rs375261945 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.003800 0.000000 0.000000 0.000000 0.000000 transition T C T>C 0.000 -1.328 255 PASS . . . . . 0.0038 0.001 . . . . . . . . . 0.33050847 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0010 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375261945 rs375261945 1 1538 10 1/0 0,237,255 +rs769606409 7 142460167 C T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460167 142460167 Chr7(GRCh37):g.142460167C>T 497-115 497-115 ENST00000486171.1:c.497-115C>T p.? p.? 5 4 276000 -115 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.51 0 Cryptic Acceptor Weakly Activated 142460183 2.90326 0.820251 3.15299 0.851827 rs769606409 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.34246576 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs769606409 7 142460167 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460167 142460167 Chr7(GRCh37):g.142460167C>T 497-115 497-115 NM_001303414.1:c.497-115C>T p.? p.? 5 4 601564 -115 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.81 0 Cryptic Acceptor Weakly Activated 142460183 2.90326 0.820251 3.15299 0.851827 rs769606409 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.34246576 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs779389180 7 142460187 T A - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460187 142460187 Chr7(GRCh37):g.142460187T>A 497-95 497-95 ENST00000486171.1:c.497-95T>A p.? p.? 5 4 276000 -95 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.51 0 rs779389180 no no 0 T 0.000000 0 transversion T A T>A 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.3618421 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 152.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,254 +rs779389180 7 142460187 T A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460187 142460187 Chr7(GRCh37):g.142460187T>A 497-95 497-95 NM_001303414.1:c.497-95T>A p.? p.? 5 4 601564 -95 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.81 0 rs779389180 no no 0 T 0.000000 0 transversion T A T>A 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.3618421 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 152.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,254 +rs757387453 7 142460201 G A - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460201 142460201 Chr7(GRCh37):g.142460201G>A 497-81 497-81 ENST00000486171.1:c.497-81G>A p.? p.? 5 4 276000 -81 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.23 0 rs757387453 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.279 242 PASS . . . . . . . . . . . . . . . . 0.27807486 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,253 +rs757387453 7 142460201 G A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460201 142460201 Chr7(GRCh37):g.142460201G>A 497-81 497-81 NM_001303414.1:c.497-81G>A p.? p.? 5 4 601564 -81 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.53 0 rs757387453 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.279 242 PASS . . . . . . . . . . . . . . . . 0.27807486 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,253 +rs767525211 7 142460203 T G - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460203 142460203 Chr7(GRCh37):g.142460203T>G 497-79 497-79 ENST00000486171.1:c.497-79T>G p.? p.? 5 4 276000 -79 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.99 0 rs767525211 no no 0 G 0.000000 0 transversion T G T>G 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.39593908 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,243 +rs767525211 7 142460203 T G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460203 142460203 Chr7(GRCh37):g.142460203T>G 497-79 497-79 NM_001303414.1:c.497-79T>G p.? p.? 5 4 601564 -79 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.28 0 rs767525211 no no 0 G 0.000000 0 transversion T G T>G 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.39593908 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,243 +rs879062448 7 142460207 C T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460207 142460207 Chr7(GRCh37):g.142460207C>T 497-75 497-75 ENST00000486171.1:c.497-75C>T p.? p.? 5 4 276000 -75 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.35 0 Cryptic Acceptor Weakly Activated 142460215 3.78476 0.401037 77.7538 4.01078 0.425418 79.5636 rs879062448 no no 0 C 0.000000 0 transition C T C>T 0.000 -2.054 179 PASS . . . . . . . . . . . . . . . . 0.11004785 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,195,255 +rs879062448 7 142460207 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460207 142460207 Chr7(GRCh37):g.142460207C>T 497-75 497-75 NM_001303414.1:c.497-75C>T p.? p.? 5 4 601564 -75 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 12.0565 0 Cryptic Acceptor Weakly Activated 142460215 3.78476 0.401037 77.7538 4.01078 0.425418 79.5636 rs879062448 no no 0 C 0.000000 0 transition C T C>T 0.000 -2.054 179 PASS . . . . . . . . . . . . . . . . 0.11004785 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,195,255 +rs777861053 7 142460212 A T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460212 142460212 Chr7(GRCh37):g.142460212A>T 497-70 497-70 ENST00000486171.1:c.497-70A>T p.? p.? 5 4 276000 -70 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.58 0 Cryptic Acceptor Strongly Activated 142460215 3.78476 0.401037 77.7538 7.42482 0.9589 81.5444 rs777861053 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41203704 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 216.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.3412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,240 +rs777861053 7 142460212 A T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460212 142460212 Chr7(GRCh37):g.142460212A>T 497-70 497-70 NM_001303414.1:c.497-70A>T p.? p.? 5 4 601564 -70 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 12.083 0 Cryptic Acceptor Strongly Activated 142460215 3.78476 0.401037 77.7538 7.42482 0.9589 81.5444 rs777861053 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41203704 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 216.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.3412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,240 +rs549425727 7 142460216 T C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460216 142460216 Chr7(GRCh37):g.142460216T>C 497-66 497-66 ENST00000486171.1:c.497-66T>C p.? p.? 5 4 276000 -66 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.39 0 rs549425727 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000000 0.004100 0.000000 0.000000 0.000000 transition T C T>C 0.000 -0.279 250 PASS . . . . . . 0.0008 . . . 0.0041 . . . . . 0.30454546 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 220.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.0518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0008 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,251 +rs549425727 7 142460216 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460216 142460216 Chr7(GRCh37):g.142460216T>C 497-66 497-66 NM_001303414.1:c.497-66T>C p.? p.? 5 4 601564 -66 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.68 0 rs549425727 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000000 0.004100 0.000000 0.000000 0.000000 transition T C T>C 0.000 -0.279 250 PASS . . . . . . 0.0008 . . . 0.0041 . . . . . 0.30454546 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 220.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.0518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0008 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,251 +rs770654296 7 142460226 C T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460226 142460226 Chr7(GRCh37):g.142460226C>T 497-56 497-56 ENST00000486171.1:c.497-56C>T p.? p.? 5 4 276000 -56 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.12 0 rs770654296 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.46456692 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 254.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.1276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,233 +rs770654296 7 142460226 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460226 142460226 Chr7(GRCh37):g.142460226C>T 497-56 497-56 NM_001303414.1:c.497-56C>T p.? p.? 5 4 601564 -56 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.41 0 rs770654296 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.46456692 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 254.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.1276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,233 +rs749152254 7 142460238 G A - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460238 142460238 Chr7(GRCh37):g.142460238G>A 497-44 497-44 ENST00000486171.1:c.497-44G>A p.? p.? 5 4 276000 -44 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 11.1728 0 rs749152254 yes no Frequency 1 G 0.000000 0 0.000376 0.001401 0.000127 0.001281 0.000328 0.000064 0.000377 0.000349 0.000394 0.001401 40 9 2 4 4 1 17 2 1 106356 6422 15724 3122 12178 15538 45102 5734 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 9 2 4 4 1 17 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.44673538 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 291.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2289 . . . . . . . . 5.676e-03 . . . 0.0289 0.0163 0.0218 0.0141 0.0369 0.0215 0.0189 0.0040 0.0371 0.0201 0.0228 0.0114 0.0381 0.0318 0.0147 0.0040 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 6.387e-05 0.0014 0 0 0.0001 0 6.436e-05 0.0634 0.0045 0.0152 0 0.2222 0.3333 0.0021 0.0068 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,208,229 +rs749152254 7 142460238 G A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460238 142460238 Chr7(GRCh37):g.142460238G>A 497-44 497-44 NM_001303414.1:c.497-44G>A p.? p.? 5 4 601564 -44 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.58 0 rs749152254 yes no Frequency 1 G 0.000000 0 0.000376 0.001401 0.000127 0.001281 0.000328 0.000064 0.000377 0.000349 0.000394 0.001401 40 9 2 4 4 1 17 2 1 106356 6422 15724 3122 12178 15538 45102 5734 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 9 2 4 4 1 17 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.44673538 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 291.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2289 . . . . . . . . 5.676e-03 . . . 0.0289 0.0163 0.0218 0.0141 0.0369 0.0215 0.0189 0.0040 0.0371 0.0201 0.0228 0.0114 0.0381 0.0318 0.0147 0.0040 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 6.387e-05 0.0014 0 0 0.0001 0 6.436e-05 0.0634 0.0045 0.0152 0 0.2222 0.3333 0.0021 0.0068 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,208,229 +. 7 142460248 TCTA T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 deletion intron GRCh37 142460251 142460253 Chr7(GRCh37):g.142460251_142460253del 497-31 497-29 ENST00000486171.1:c.497-31_497-29del p.? p.? 5 4 276000 -29 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 X.92 0 rs371688105 no no 0 0.000000 0 ACT 255 Pass . . . . . . . . . . . . . . . . 0.4620462 . . . 140 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 303 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371688105 rs371688105 1 1538 10 1.I 0,12,34 +. 7 142460248 TCTA T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 deletion intron GRCh37 142460251 142460253 Chr7(GRCh37):g.142460251_142460253del 497-31 497-29 NM_001303414.1:c.497-31_497-29del p.? p.? 5 4 601564 -29 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.22 0 rs371688105 no no 0 0.000000 0 ACT 255 Pass . . . . . . . . . . . . . . . . 0.4620462 . . . 140 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 303 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371688105 rs371688105 1 1538 10 1.I 0,12,34 +rs754595466 7 142460255 C T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460255 142460255 Chr7(GRCh37):g.142460255C>T 497-27 497-27 ENST00000486171.1:c.497-27C>T p.? p.? 5 4 276000 -27 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.17 0 rs754595466 yes no Frequency 1 T 0.000000 0 0.003967 0.001791 0.002446 0.012429 0.000429 0.003167 0.004847 0.007705 0.001709 0.012429 471 15 44 48 5 48 249 57 5 118744 8376 17988 3862 11662 15156 51376 7398 2926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 471 15 44 48 5 48 249 57 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.47118643 . . @ 139 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 295.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4661 . . . . . . . . 1.684e-05 . . . 0 6.651e-05 0 0 0 0 0 0.0003 0 0.0001 0 0 0 0.0002 0 0.0003 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0041 0.0025 0.0132 0.0003 0.0080 0.0053 0.0019 0.0032 0.0109 0.0026 0 0 0.0024 0.0046 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,210,229 +rs754595466 7 142460255 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460255 142460255 Chr7(GRCh37):g.142460255C>T 497-27 497-27 NM_001303414.1:c.497-27C>T p.? p.? 5 4 601564 -27 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.46 0 rs754595466 yes no Frequency 1 T 0.000000 0 0.003967 0.001791 0.002446 0.012429 0.000429 0.003167 0.004847 0.007705 0.001709 0.012429 471 15 44 48 5 48 249 57 5 118744 8376 17988 3862 11662 15156 51376 7398 2926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 471 15 44 48 5 48 249 57 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.47118643 . . @ 139 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 295.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4661 . . . . . . . . 1.684e-05 . . . 0 6.651e-05 0 0 0 0 0 0.0003 0 0.0001 0 0 0 0.0002 0 0.0003 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0041 0.0025 0.0132 0.0003 0.0080 0.0053 0.0019 0.0032 0.0109 0.0026 0 0 0.0024 0.0046 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,210,229 +rs796982044 7 142460482 G T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460482 142460482 Chr7(GRCh37):g.142460482G>T 633+64 633+64 ENST00000486171.1:c.633+64G>T p.? p.? 5 5 276000 64 5' 83.2449 5.94804 0.211811 2.77472 83.2449 5.94804 0.211811 2.62999 0 Cryptic Acceptor Strongly Activated 142460499 0.001291 71.7265 1.44111 0.005909 71.7265 rs796982044 no no 0 A 0.000000 0 transversion G T G>T 0.000 -1.086 146 PASS . . . . . . . . . . . . . . . . 0.1294964 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.3648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs796982044 7 142460482 G T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460482 142460482 Chr7(GRCh37):g.142460482G>T 633+64 633+64 NM_001303414.1:c.633+64G>T p.? p.? 5 5 601564 64 5' 83.2449 5.94804 0.276096 4.59045 83.2449 5.94804 0.276096 4.44573 0 Cryptic Acceptor Strongly Activated 142460499 0.001291 71.7265 1.44111 0.005909 71.7265 rs796982044 no no 0 A 0.000000 0 transversion G T G>T 0.000 -1.086 146 PASS . . . . . . . . . . . . . . . . 0.1294964 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.3648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs564920652 7 142460494 A C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460494 142460494 Chr7(GRCh37):g.142460494A>C 633+76 633+76 ENST00000486171.1:c.633+76A>C p.? p.? 5 5 276000 76 5' 83.2449 5.94804 0.211811 2.77472 83.2449 5.94804 0.211811 2.92515 0 Cryptic Acceptor Strongly Activated 142460499 0.001291 71.7265 I.61 0.028552 74.771 rs564920652 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 transversion A C A>C 0.000 -0.279 192 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.13953489 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0002 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs564920652 7 142460494 A C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460494 142460494 Chr7(GRCh37):g.142460494A>C 633+76 633+76 NM_001303414.1:c.633+76A>C p.? p.? 5 5 601564 76 5' 83.2449 5.94804 0.276096 4.59045 83.2449 5.94804 0.276096 4.74088 0 Cryptic Acceptor Strongly Activated 142460499 0.001291 71.7265 I.61 0.028552 74.771 rs564920652 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 transversion A C A>C 0.000 -0.279 192 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.13953489 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0002 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs879215460 7 142460495 A C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460495 142460495 Chr7(GRCh37):g.142460495A>C 633+77 633+77 ENST00000486171.1:c.633+77A>C p.? p.? 5 5 276000 77 5' 83.2449 5.94804 0.211811 2.77472 83.2449 5.94804 0.211811 2.99956 0 rs879215460 no no 0 A 0.000000 0 transversion A C A>C 0.000 0.125 205 PASS . . . . . . . . . . . . . . . . 0.17213115 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs879215460 7 142460495 A C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460495 142460495 Chr7(GRCh37):g.142460495A>C 633+77 633+77 NM_001303414.1:c.633+77A>C p.? p.? 5 5 601564 77 5' 83.2449 5.94804 0.276096 4.59045 83.2449 5.94804 0.276096 IV.53 0 rs879215460 no no 0 A 0.000000 0 transversion A C A>C 0.000 0.125 205 PASS . . . . . . . . . . . . . . . . 0.17213115 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs879135778 7 142460503 T C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460503 142460503 Chr7(GRCh37):g.142460503T>C 633+85 633+85 ENST00000486171.1:c.633+85T>C p.? p.? 5 5 276000 85 5' 83.2449 5.94804 0.211811 2.77472 83.2449 5.94804 0.211811 2.77472 0 rs879135778 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.279 194 PASS . . . . . . . . . . . . . . . . 0.14516129 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs879135778 7 142460503 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460503 142460503 Chr7(GRCh37):g.142460503T>C 633+85 633+85 NM_001303414.1:c.633+85T>C p.? p.? 5 5 601564 85 5' 83.2449 5.94804 0.276096 4.59045 83.2449 5.94804 0.276096 4.59045 0 rs879135778 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.279 194 PASS . . . . . . . . . . . . . . . . 0.14516129 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 7 142470607 A T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470607 142470607 Chr7(GRCh37):g.142470607A>T *9736 *9736 NM_001303414.1:c.*9736A>T p.? p.? 6 601564 9889 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 Cryptic Acceptor Strongly Activated 142470614 1.43286 0.001223 76.5978 2.35808 0.024437 81.5988 rs1038418871 no no 0 A 0.000000 0 transversion A T A>T 0.000 -0.521 207 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 170.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9680\x3bdist\x3d8150 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +rs367807406 7 142470612 A G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470612 142470612 Chr7(GRCh37):g.142470612A>G *9741 *9741 NM_001303414.1:c.*9741A>G p.? p.? 6 601564 9894 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs367807406 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 transition A G A>G 0.000 -1.489 217 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.20555556 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 180.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0002 . . . . . . ENSG00000250591 . . . . dist\x3d9685\x3bdist\x3d8145 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs367807406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs367807406 rs367807406 1 1538 10 1/0 0,210,255 +. 7 142470614 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470614 142470614 Chr7(GRCh37):g.142470614C>T *9743 *9743 NM_001303414.1:c.*9743C>T p.? p.? 6 601564 9896 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs994288940 no no 0 C 0.000000 0 transition C T C>T 0.291 0.528 208 PASS . . . . . . . . . . . . . . . . 0.17934783 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 184.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9687\x3bdist\x3d8143 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs368963025 7 142470645 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470645 142470645 Chr7(GRCh37):g.142470645T>C *9774 *9774 NM_001303414.1:c.*9774T>C p.? p.? 6 601564 9927 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs368963025 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 transition T C T>C 0.000 -0.279 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.37435898 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 195.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0002 . . . . . . ENSG00000250591 . . . . dist\x3d9718\x3bdist\x3d8112 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs368963025 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs368963025 rs368963025 1 1538 10 1/0 0,222,255 +rs375588069 7 142470646 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470646 142470646 Chr7(GRCh37):g.142470646T>C *9775 *9775 NM_001303414.1:c.*9775T>C p.? p.? 6 601564 9928 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs375588069 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 transition T C T>C 0.000 -1.651 209 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.18181819 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 198.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0002 . . . . . . ENSG00000250591 . . . . dist\x3d9719\x3bdist\x3d8111 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.57 rs375588069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs375588069 rs375588069 1 1538 10 1/0 0,204,255 +rs547733540 7 142470686 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470686 142470686 Chr7(GRCh37):g.142470686T>C *9815 *9815 NM_001303414.1:c.*9815T>C p.? p.? 6 601564 9968 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs547733540 yes no Frequency/1000G 2 T 0.000000 0 transition T C T>C 0.000 0.367 241 PASS . . . . . . . . . . . . . . . . 0.27741936 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 155.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0004 . . . . . . ENSG00000250591 . . . . dist\x3d9759\x3bdist\x3d8071 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs878939011 7 142470687 G A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470687 142470687 Chr7(GRCh37):g.142470687G>A *9816 *9816 NM_001303414.1:c.*9816G>A p.? p.? 6 601564 9969 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs878939011 no no 0 G 0.000000 0 transition G A G>A 0.000 -3.749 239 PASS . . . . . . . . . . . . . . . . 0.26923078 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 156.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9760\x3bdist\x3d8070 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs10952531 7 142470691 G C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470691 142470691 Chr7(GRCh37):g.142470691G>C *9820 *9820 NM_001303414.1:c.*9820G>C p.? p.? 6 601564 9973 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs10952531 yes no Frequency/1000G 2 G 0.000000 0 0.323682 0.090800 0.328200 0.232100 0.588500 0.510100 transversion G C G>C 0.992 2.465 255 PASS 0.1 0.31 0.43 0.23 0.46 0.091 0.32 0.51 0.23 0.59 0.33 . . . . . 0.35099337 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.3237 . . . 0.19 0.27 182 ENSG00000250591 . . . . dist\x3d9764\x3bdist\x3d8066 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . 0.315 0.420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs10952531 rs10952531 rs10952531 rs10952531 1 1538 10 1/0 0,232,255 +rs879207249 7 142470693 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470693 142470693 Chr7(GRCh37):g.142470693T>C *9822 *9822 NM_001303414.1:c.*9822T>C p.? p.? 6 601564 9975 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs879207249 no no 0 T 0.000000 0 transition T C T>C 0.000 -2.539 244 PASS . . . . . . . . . . . . . . . . 0.28476822 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9766\x3bdist\x3d8064 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 7 142470694 G A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470694 142470694 Chr7(GRCh37):g.142470694G>A *9823 *9823 NM_001303414.1:c.*9823G>A p.? p.? 6 601564 9976 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs967092116 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.198 213 PASS . . . . . . . . . . . . . . . . 0.19205298 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9767\x3bdist\x3d8063 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs375249350 7 142470708 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470708 142470708 Chr7(GRCh37):g.142470708C>T *9837 *9837 NM_001303414.1:c.*9837C>T p.? p.? 6 601564 9990 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs375249350 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 transition C T C>T 0.000 -0.360 210 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.18461539 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 130.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0002 . . . . . . ENSG00000250591 . . . . dist\x3d9781\x3bdist\x3d8049 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs375249350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs375249350 rs375249350 1 1538 10 1/0 0,223,255 +rs879177965 7 142470709 A G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470709 142470709 Chr7(GRCh37):g.142470709A>G *9838 *9838 NM_001303414.1:c.*9838A>G p.? p.? 6 601564 9991 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs879177965 no no 0 G 0.000000 0 transition A G A>G 0.197 1.093 246 PASS . . . . . . . . . . . . . . . . 0.2913386 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 127.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9782\x3bdist\x3d8048 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +rs879125955 7 142470715 A G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470715 142470715 Chr7(GRCh37):g.142470715A>G *9844 *9844 NM_001303414.1:c.*9844A>G p.? p.? 6 601564 9997 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs879125955 no no 0 A 0.000000 0 transition A G A>G 0.000 -1.409 174 PASS . . . . . . . . . . . . . . . . 0.10169491 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 118.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9788\x3bdist\x3d8042 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs879052497 7 142470726 A G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470726 142470726 Chr7(GRCh37):g.142470726A>G *9855 *9855 NM_001303414.1:c.*9855A>G p.? p.? 6 601564 10008 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs879052497 no no 0 A 0.000000 0 transition A G A>G 1.000 1.093 244 PASS . . . . . . . . . . . . . . . . 0.28846154 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9799\x3bdist\x3d8031 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs797025742 (chr7:142498706 T/A) 7 142498706 T A Not on a known gene +rs371096403 (chr7:142498707 T/C) 7 142498707 T C Not on a known gene +rs373078226 (chr7:142498708 A/C) 7 142498708 A C Not on a known gene +rs563423438 7 143029875 C T - CLCN1 2019 Chloride channel, voltage-sensitive 1 NM_000083.2 1 3093 2967 NP_000074.2 P35523 substitution missense exon GRCh37 143029875 143029875 Chr7(GRCh37):g.143029875C>T 1310 1310 NM_000083.2:c.1310C>T p.Ala437Val p.Ala437Val 12 118425 59 3' 84.4567 X.79 0.959296 14.0021 84.4567 X.79 0.959296 13.833 0 Cryptic Donor Weakly Activated 143029873 65.6992 4.46441 0.383359 72.246 Chloride channel, voltage gated rs563423438 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000150 0.000000 0.000060 0.000000 0.000000 0.001040 0.000027 0.000000 0.000000 0.001040 37 0 2 0 0 32 3 0 0 246236 15302 33580 9850 17248 30782 111688 22300 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 0 2 0 0 32 3 0 0 0 0 0 0 0 0 0 0 0 PASS 168 Exomes transition C T C>T 0.000 -0.117 A Ala GCG 0.107 V Val GTG 0.468 437 15 3 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 278.15 0.00 Tolerated 0.61 III.49 good 9.761E-1 0.544 255 PASS . . . . . . 0.0004 . . . 0.002 ENSG00000188037:ENST00000343257:exon12:c.C1310T:p.A437V CLCN1:uc003wcr.1:exon12:c.C1310T:p.A437V CLCN1:NM_000083:exon12:c.C1310T:p.A437V . . 0.5507246 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 1 0 0 . . . . . . 0.105 . @ . . . . . 1 0.179 . . 69.0 . . . . . . . . . . -1.4746 -1.546 -1.475 c . . . . . 1.736e-04 . . . 0 0.0002 0 0 0 0 0 0.0012 0 0.0002 0 0 0 5.52e-05 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.020 0.0004 . . . . . . ENSG00000188037 CLCN1 CLCN1 . . . 1.000 0.489 . . . . . . . Likely_benign . 0 . 0.016 . . . . D 0.553 0.034 . . 37 . 0.686 . . 0.588 . . . 0.190 0.090 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 1 0.139 . . . . . 0.056 . 0.100 . HET 0.6 rs563423438 . . . . . . . . . . . . 3.0053 . ENST00000343257 V.36 -5.96 . 0.670000 P35523 . . . . . 0.097 . . . 0 0.0002 5.956e-05 0 0 0 2.686e-05 0 0.0010 . . . . . . . . . . 0.246 . -1.297 -1.297000 . . 0.670000 . . 1.0E-255 0.000 0.063 . 0.062 0.604 . 0.097 . 0.049 -1.297 0.021 . . . . . 1 1538 10 1/0 0,255,255 +rs199982689 7 143271208 C T - CTAGE15 37295 CTAGE family, member 15 NM_001008747.2 1 2587 2334 NP_001008747.1 Q86UF2 substitution synonymous exon GRCh37 143271208 143271208 Chr7(GRCh37):g.143271208C>T 2298 2298 NM_001008747.2:c.2298C>T p.His766= p.His766His 1 rs199982689 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.004 -2.781 H His CAC 0.587 H His CAT 0.413 766 220 PASS . . . . . . . . . . . ENSG00000271079:ENST00000420911:exon1:c.C2298T:p.H766H CTAGE15:uc011kth.3:exon1:c.C2298T:p.H766H CTAGE15:NM_001008747:exon1:c.C2298T:p.H766H . . 0.21495327 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H766|CTAGE15|mRNA|CODING|NM_001008747|NM_001008747.ex.1) . . . . . . . -1.0691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.18 182 ENSG00000271079 CTAGE15 CTAGE15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199982689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs2966644 rs2966644 rs2966644 rs199982689 1 1538 10 1/0 0,233,255 +rs879371183 (chr7:143301670 C/T) 7 143301670 C T Not on a known gene +. 7 143341041 C T - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution intron GRCh37 143341041 143341041 Chr7(GRCh37):g.143341041C>T 22913 22913 NM_001130025.1:c.-15+22928C>T p.? p.? 1 1 616252 22928 5' 83.6222 7.93332 0.981476 9.94117 83.6222 7.93332 0.981476 9.94117 0 transition C T C>T 0.630 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.64285713 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 28.0 . . . . . . . . . . -0.2246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000253882 . TCAF2P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs4725631 rs4725631 1 1538 10 1/0 0,255,255 +. 7 143343890 C G - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution intron GRCh37 143343890 143343890 Chr7(GRCh37):g.143343890C>G 25762 25762 NM_001130025.1:c.-15+25777C>G p.? p.? 1 1 616252 25777 5' 83.6222 7.93332 0.981476 9.94117 83.6222 7.93332 0.981476 9.94117 0 0.007333 0.014381 0.009946 0.000000 0.003546 0.017822 0.004985 0.000000 0.003356 0.017822 69 13 11 0 3 18 23 0 1 9410 904 1106 308 846 1010 4614 324 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 13 11 0 3 18 23 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.000 -4.556 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 37.0 . . . . . . . . . . -1.1131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000253882 LOC154761 TCAF2P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0149 0.0077 0.0100 0 0.0036 0 0.0052 0.0034 0.0178 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs2306873 rs2306873 1 1538 255 1.I 0,0,255 +. 7 143343927 C T - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution intron GRCh37 143343927 143343927 Chr7(GRCh37):g.143343927C>T 25799 25799 NM_001130025.1:c.-15+25814C>T p.? p.? 1 1 616252 25814 5' 83.6222 7.93332 0.981476 9.94117 83.6222 7.93332 0.981476 9.94117 0 Cryptic Acceptor Weakly Activated 143343937 6.60639 0.836469 77.9588 7.03487 0.892168 81.2415 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10314 954 1356 332 912 1332 4930 154 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 63 Exomes transition C T C>T 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.2646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000253882 LOC154761 TCAF2P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0.05 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs2306872 rs2306872 1 1538 10 1/0 0,255,255 +rs2306872 7 143417588 G A - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution missense exon GRCh37 143417588 143417588 Chr7(GRCh37):g.143417588G>A 1436 1436 NM_001130025.1:c.1436G>A p.Arg479Gln p.Arg479Gln 3 616252 -180 5' 84.4974 IX.89 0.976373 4.56408 84.4974 IX.89 0.976373 4.56408 0 rs2306872 yes no Frequency 1 G 0.000000 0 0.000604 0.000338 0.000574 0.000000 0.000603 0.000793 0.000678 0.001435 0.000000 0.001435 22 2 3 0 3 2 10 2 0 36426 5922 5224 620 4974 2522 14744 1394 1026 0.000055 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 0.000000 0.000000 1 0 0 0 0 0 1 0 0 20 2 3 0 3 2 8 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4838153|COSM4838153 Haematopoietic and lymphoid tissue|Cervix 0.000850|0.003040 3530|329 transition G A G>A 0.000 0.044 R Arg CGG 0.207 Q Gln CAG 0.744 479 12 6 Platypus 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 138.33 0.00 Tolerated 0.3 III.26 good 5,13E-01 7 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.394 . . 39.0 . . . . . . . . . . -1.1380 -1.230 -1.138 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.041 @ . . . 0.46 0.35 182 ENSG00000170379 FAM115C TCAF2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.165 0.006 . . 37 . 0.300 . . 0.079 . . . 0.308 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.283 . . 0.236 . . . . . . 0 0.269 . . . . . 0.121 . 0.115 . HET 0.05 rs2306872 . . . . . . . . . . . . IV.61 0.005405 . III.53 -3.7 . 0.410000 . . . . . . 0.065 . . . 0 0.0006 0.0004 0 0.0006 0 0.0008 0 0.0008 0.0009 0.0008 0.0116 0 0 0.0021 0 0 . . 0.558 . -0.963 -0.963000 . . 0.410000 . . 1.0E-255 0.000 0.063 . 0.074 0.003 . 0.041 . 0.035 -0.963 -0.890 . rs2306872 rs2306872 rs2306872 rs2306872 1 1538 10 1/0 0,255,255 +rs4725631 7 143420482 G A - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution synonymous exon GRCh37 143420482 143420482 Chr7(GRCh37):g.143420482G>A 2106 2106 NM_001130025.1:c.2106G>A p.Ala702= p.Ala702Ala 6 616252 -62 5' 77.0459 6.28946 0.247304 3.87632 77.0459 6.28946 0.247304 3.59162 0 rs4725631 no no 0 G 0.000000 0 COSM4004353 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.008 -2.942 A Ala GCG 0.107 A Ala GCA 0.226 702 255 PASS . . . . . . . . . . . . . . . . 0.6060606 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -1.2031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.43 182 ENSG00000170379 FAM115C TCAF2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4725631 . . . . . . . . . . . . XI.48 . ENST00000518791 III.48 -6.95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.295 -2.295000 . . . . . 1.0E-255 . . . . . . . . . -2.295 . . rs4725631 rs4725631 rs4725631 rs4725631 1 1538 10 1/0 0,255,255 +rs779076333 7 143453889 G A - CTAGE6 28644 CTAGE family, member 6 NM_178561.4 -1 2662 2334 NP_848656.2 Q86UF2 substitution missense exon GRCh37 143453889 143453889 Chr7(GRCh37):g.143453889G>A 863 863 NM_178561.4:c.863C>T p.Thr288Met p.Thr288Met 1 rs779076333 yes no Frequency 1 G 0.000000 0 0.002999 0.013389 0.000278 0.000000 0.008908 0.000483 0.000028 0.000000 0.000000 0.013389 243 157 3 0 79 3 1 0 0 81032 11726 10806 1564 8868 6210 35218 4268 2372 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243 157 3 0 79 3 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.043 0.125 T Thr ACG 0.116 M Met ATG 1.000 288 -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 188 PASS . . . . . . . . . . . ENSG00000271321:ENST00000470691:exon1:c.C863T:p.T288M CTAGE6:uc003wdk.4:exon1:c.C863T:p.T288M CTAGE6:NM_178561:exon1:c.C863T:p.T288M . . 0.13142857 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.077 . @ . . . . . 1 0.025 . . 175.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T288M|CTAGE6|mRNA|CODING|NM_178561|NM_178561.ex.1) . . . . . . . -0.3741 -0.210 -0.374 n . . . . . 1.472e-04 . . . 0 0.0010 0 0.0217 0 0 0 0 0 0 0 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . . @ . . . . . . ENSG00000271321 CTAGE6 CTAGE6 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.237 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.325 . . 0.257 . . . . . . 0 . . . . . . . . 0.036 . LowAF . rs779076333 . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 . . . 0.0006 0.0015 9.905e-05 0 0.0097 0 4.512e-05 0 0.0005 0.0235 0.0062 0.0028 0 0.0048 0 0 0 . . 0.013 . . . . . . . . 1.0E-188 0.001 0.137 . 0.157 0.013 . 0.150 . 0.253 . -0.180 . rs1731345 rs1731345 rs1731345 rs1731345 1 1538 10 1/0 0,205,255 +rs148935973 7 143510788 G A - TCAF2P1 33603 TRPM8 channel-associated factor 2 pseudogene 1 NR_110549.1 1 2268 0 substitution exon GRCh37 143510788 143510788 Chr7(GRCh37):g.143510788G>A 1483 1483 NR_110549.1:n.1483G>A 4 -62 5' 77.0459 6.28946 0.247304 3.87632 77.0459 6.28946 0.247304 3.59162 0 rs148935973 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.630 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.56 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 25.0 . . . . . . . . . . -0.1609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.63 0.48 182 . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148935973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4725631 rs4725631 rs4725631 rs148935973 1 1538 10 1/0 0,255,255 +rs201784448 7 143826587 C G - OR2A14 15084 Olfactory receptor, family 2, subfamily A, member 14 NM_001001659.1 1 933 933 NP_001001659.1 Q96R47 substitution missense exon GRCh37 143826587 143826587 Chr7(GRCh37):g.143826587C>G 382 382 NM_001001659.1:c.382C>G p.Pro128Ala p.Pro128Ala 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily Olfactory receptor rs201784448 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000607 0.000042 0.000203 0.000887 0.000000 0.000032 0.001147 0.000000 0.000774 0.001147 168 1 7 9 0 1 145 0 5 276884 24026 34414 10144 18868 30782 126398 25790 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 168 1 7 9 0 1 145 0 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8513 4312 12825 13 0 13 0.00152475 0 0.00101262 0.00152475 0 0.00101262 205 transversion C G C>G 0.992 4.967 P Pro CCC 0.328 A Ala GCC 0.403 128 6 6 Wallaby -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C25 0.00 26.87 Deleterious 0 III.65 bad 2.32E-4 0.0002166 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . ENSG00000221938:ENST00000408899:exon1:c.C382G:p.P128A OR2A14:uc011kua.2:exon1:c.C382G:p.P128A OR2A14:NM_001001659:exon1:c.C382G:p.P128A . . 0.46363637 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.518 . @ . . . . . 1 0.299 . . 110.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Gcc|P128A|OR2A14|mRNA|CODING|NM_001001659|NM_001001659.ex.1) . 0.001 0.0015 . 0.001 0.0015 . 0.5695 0.445 0.570 c . . . . . 5.223e-04 . . . 0 0.0007 8.648e-05 0 0 0.0014 0 6.06e-05 0 0.0005 8.917e-05 0 0 0.0009 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.019 . . exonic exonic exonic . . 0.483 0.0002 . . . 0.2 0.19 182 ENSG00000221938 OR2A14 OR2A14 . . . 1.000 0.415 . 30 0.000461709 64976 29 0.000483446 59986 Uncertain_significance . 0 . 0.321 . . . . T 0.129 0.005 . . 37 . 0.144 . . 0.032 . . . 0.938 0.473 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.960 . . 0 0 0 0 0 0 . 0.413 . . 0.470 . . . . . . 0 0.614 . . . . . 0.663 . 0.748 . HET 0.01 rs201784448 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 14.3811 0.0 ENST00000408899 IV.18 IV.18 . 0.020000 Q96R47 . . . 0.001013 . 0.910 . . IV.18 0 0.0006 0.0002 0.0009 0 0 0.0011 0.0007 3.249e-05 0.0001 0.0008 0 0 0 0 0.0015 0.0010 . . 0.133 . 2.303 2.303000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.230 0.862 . 0.835 . 0.445 2.303 0.871 0.0028 . . rs201784448 rs201784448 1 1538 10 1/0 0,252,255 +. 7 143881638 A T - ARHGEF35 33846 Rho guanine nucleotide exchange factor (GEF) 35 NM_001003702.2 -1 2474 1455 NP_001003702.2 A5YM69 substitution downstream GRCh37 143881638 143881638 Chr7(GRCh37):g.143881638A>T *2384 *2384 NM_001003702.2:c.*2384T>A p.? p.? 2 3851 3' 82.1174 9.90671 0.993198 8.94117 82.1174 9.90671 0.993198 8.94117 0 transversion T A T>A 0.004 0.609 174 PASS . . . . . . . . . . . ENSG00000225932:ENST00000486333:exon1:c.A1042T:p.T348S CTAGE4:uc010lpc.3:exon1:c.A1042T:p.T348S CTAGE4:NM_198495:exon1:c.A1042T:p.T348S . . 0.10185185 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.130 . . 108.0 . . . . . . . . . . -0.4947 -0.759 -0.495 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.177 @ . . . 0.37 0.24 182 ENSG00000225932 CTAGE4 CTAGE4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.435 . . 0.357 . . . 0.601 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.444 . . 0.419 . . . . . . 1 0.286 . . . . . 0.079 . 0.011 . LowAF . . . . . . . . . . . . . . III.89 . ENST00000486333 0.791 0.791 . 0.200000 Q8IX94 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.149 0.149000 . . 0.200000 . . 1.0E-174 0.001 0.137 . 0.120 0.012 . 0.143 . 0.268 0.149 0.642 . rs2966647 rs2966647 rs2966647 rs2966647 1 1538 10 1/0 0,223,255 +. 7 143881638 A T - CTAGE4 24772 CTAGE family, member 4 NM_198495.2 1 2626 2334 NP_940897.2 Q8IX94 substitution missense exon GRCh37 143881638 143881638 Chr7(GRCh37):g.143881638A>T 1042 1042 NM_198495.2:c.1042A>T p.Thr348Ser p.Thr348Ser 1 608910 transversion A T A>T 0.004 0.609 T Thr ACA 0.280 S Ser TCA 0.148 348 22 6 Hoffmann's two-fingered sloth 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.26 3.00 good 8.449E-1 0.4979 174 PASS . . . . . . . . . . . ENSG00000225932:ENST00000486333:exon1:c.A1042T:p.T348S CTAGE4:uc010lpc.3:exon1:c.A1042T:p.T348S CTAGE4:NM_198495:exon1:c.A1042T:p.T348S . . 0.10185185 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.130 . . 108.0 . . . . . . . . . . -0.4947 -0.759 -0.495 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.177 @ . . . 0.37 0.24 182 ENSG00000225932 CTAGE4 CTAGE4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.435 . . 0.357 . . . 0.601 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.444 . . 0.419 . . . . . . 1 0.286 . . . . . 0.079 . 0.011 . LowAF . . . . . . . . . . . . . . III.89 . ENST00000486333 0.791 0.791 . 0.200000 Q8IX94 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.149 0.149000 . . 0.200000 . . 1.0E-174 0.001 0.137 . 0.120 0.012 . 0.143 . 0.268 0.149 0.642 . rs2966647 rs2966647 rs2966647 rs2966647 1 1538 10 1/0 0,223,255 +rs878957903 7 143881687 C T - ARHGEF35 33846 Rho guanine nucleotide exchange factor (GEF) 35 NM_001003702.2 -1 2474 1455 NP_001003702.2 A5YM69 substitution downstream GRCh37 143881687 143881687 Chr7(GRCh37):g.143881687C>T *2335 *2335 NM_001003702.2:c.*2335G>A p.? p.? 2 3802 3' 82.1174 9.90671 0.993198 8.94117 82.1174 9.90671 0.993198 8.94117 0 transition G A G>A 0.055 -0.198 175 PASS . . . . . . . . . . . ENSG00000225932:ENST00000486333:exon1:c.C1091T:p.A364V CTAGE4:uc010lpc.3:exon1:c.C1091T:p.A364V CTAGE4:NM_198495:exon1:c.C1091T:p.A364V . . 0.10309278 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.133 . @ . . . . . 1 0.186 . . 97.0 . . . . . . . . . . -0.8194 -1.004 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.113 @ . . . 0.38 0.24 182 ENSG00000225932 CTAGE4 CTAGE4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.444 . . 0.507 . . . 0.576 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.358 . . 0 0 0 0 0 0 . 0.220 . . 0.334 . . . . . . 1 0.233 . . . . . 0.047 . 0.025 . LowAF . . . . . . . . . . . . . . II.07 . ENST00000486333 0.791 -0.507 . 0.130000 Q8IX94 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.172 0.172000 . . 0.130000 . . 1.0E-175 0.689 0.283 . 0.164 0.012 . 0.083 . 0.254 0.172 -0.653 . . . . . 1 1538 10 1/0 0,228,255 +rs878957903 7 143881687 C T - CTAGE4 24772 CTAGE family, member 4 NM_198495.2 1 2626 2334 NP_940897.2 Q8IX94 substitution missense exon GRCh37 143881687 143881687 Chr7(GRCh37):g.143881687C>T 1091 1091 NM_198495.2:c.1091C>T p.Ala364Val p.Ala364Val 1 608910 transition C T C>T 0.055 -0.198 A Ala GCA 0.226 V Val GTA 0.114 364 22 9 Zebra finch 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.38 3.00 good 4.135E-1 0.4926 175 PASS . . . . . . . . . . . ENSG00000225932:ENST00000486333:exon1:c.C1091T:p.A364V CTAGE4:uc010lpc.3:exon1:c.C1091T:p.A364V CTAGE4:NM_198495:exon1:c.C1091T:p.A364V . . 0.10309278 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.133 . @ . . . . . 1 0.186 . . 97.0 . . . . . . . . . . -0.8194 -1.004 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.113 @ . . . 0.38 0.24 182 ENSG00000225932 CTAGE4 CTAGE4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.444 . . 0.507 . . . 0.576 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.358 . . 0 0 0 0 0 0 . 0.220 . . 0.334 . . . . . . 1 0.233 . . . . . 0.047 . 0.025 . LowAF . . . . . . . . . . . . . . II.07 . ENST00000486333 0.791 -0.507 . 0.130000 Q8IX94 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.172 0.172000 . . 0.130000 . . 1.0E-175 0.689 0.283 . 0.164 0.012 . 0.083 . 0.254 0.172 -0.653 . . . . . 1 1538 10 1/0 0,228,255 +rs755621211 7 143956465 T A - ARHGEF34P 38086 Rho guanine nucleotide exchange factor (GEF) 34, pseudogene NR_033942.1 -1 4204 0 substitution exon GRCh37 143956465 143956465 Chr7(GRCh37):g.143956465T>A 3828 3828 NR_033942.1:n.3828A>T 13 261 3' 82.9643 7.75451 0.961476 4.70814 82.9643 7.75451 0.961476 4.70814 0 Cryptic Acceptor Strongly Activated 143956459 1.71629 0.004033 78.7519 3.73932 0.114436 82.1755 rs755621211 yes no Frequency 1 T 0.000000 0 0.000657 0.006877 0.000504 0.000275 0.000000 0.000130 0.000095 0.000000 0.000624 0.006877 125 96 13 2 0 3 8 0 3 190300 13960 25808 7274 15170 23110 83866 16302 4810 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 96 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5792770 Breast 0.000410 2442 transversion A T A>T 0.000 -1.167 182 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.A257T:p.H86L OR2A7:uc011kuc.2:exon1:c.A257T:p.H86L OR2A7:NM_001005328:exon1:c.A257T:p.H86L . . 0.11647727 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.125 . . 352.0 . . . . . . . . . . -1.3687 -1.379 -1.369 c . . . . . 2.535e-05 . . . 0.0004 6.575e-05 0 0 0 7.365e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.001 . . 0.089 . . . 0.027 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.182 . . . . . 0.155 . 0.189 . LowAF 0.21 rs755621211 . . . . . . . . . . . . V.03 . ENST00000493325 II.95 -2.38 . 0.250000 Q96R45 . . . . . 0.038 . . . 0.0073 0.0005 0.0005 0.0003 0 0 5.591e-05 0.0005 0.0001 0.0064 0.0018 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -0.519 -0.519000 . . 0.250000 . . 1.0E-182 0.000 0.063 . 0.214 0.002 . 0.006 . 0.043 -0.519 -0.555 . . . . . 1 1538 10 1/0 0,173,255 +rs755621211 7 143956465 T A - OR2A1-AS1 49168 OR2A1 antisense RNA 1 NR_126023.1 -1 946 0 substitution intron GRCh37 143956465 143956465 Chr7(GRCh37):g.143956465T>A 608-19629 608-19629 NR_126023.1:n.608-19629A>T p.? p.? 4 3 -19629 3' 94.9235 7.43713 0.931247 2.04708 94.9235 7.43713 0.931247 2.04708 0 Cryptic Acceptor Strongly Activated 143956459 1.71629 0.004033 78.7519 3.73932 0.114436 82.1755 rs755621211 yes no Frequency 1 T 0.000000 0 0.000657 0.006877 0.000504 0.000275 0.000000 0.000130 0.000095 0.000000 0.000624 0.006877 125 96 13 2 0 3 8 0 3 190300 13960 25808 7274 15170 23110 83866 16302 4810 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 96 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5792770 Breast 0.000410 2442 transversion A T A>T 0.000 -1.167 182 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.A257T:p.H86L OR2A7:uc011kuc.2:exon1:c.A257T:p.H86L OR2A7:NM_001005328:exon1:c.A257T:p.H86L . . 0.11647727 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.125 . . 352.0 . . . . . . . . . . -1.3687 -1.379 -1.369 c . . . . . 2.535e-05 . . . 0.0004 6.575e-05 0 0 0 7.365e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.001 . . 0.089 . . . 0.027 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.182 . . . . . 0.155 . 0.189 . LowAF 0.21 rs755621211 . . . . . . . . . . . . V.03 . ENST00000493325 II.95 -2.38 . 0.250000 Q96R45 . . . . . 0.038 . . . 0.0073 0.0005 0.0005 0.0003 0 0 5.591e-05 0.0005 0.0001 0.0064 0.0018 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -0.519 -0.519000 . . 0.250000 . . 1.0E-182 0.000 0.063 . 0.214 0.002 . 0.006 . 0.043 -0.519 -0.555 . . . . . 1 1538 10 1/0 0,173,255 +rs755621211 7 143956465 T A - OR2A7 8234 Olfactory receptor, family 2, subfamily A, member 7 NM_001005328.1 -1 933 933 NP_001005328.1 Q96R45 substitution missense exon GRCh37 143956465 143956465 Chr7(GRCh37):g.143956465T>A 257 257 NM_001005328.1:c.257A>T p.His86Leu p.His86Leu 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs755621211 yes no Frequency 1 T 0.000000 0 0.000657 0.006877 0.000504 0.000275 0.000000 0.000130 0.000095 0.000000 0.000624 0.006877 125 96 13 2 0 3 8 0 3 190300 13960 25808 7274 15170 23110 83866 16302 4810 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 96 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5792770 Breast 0.000410 2442 transversion A T A>T 0.000 -1.167 H His CAT 0.413 L Leu CTT 0.129 86 9 2 Macaque -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 C0 125.69 80.18 Tolerated 0.11 III.89 bad 5.917E-3 0.194 182 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.A257T:p.H86L OR2A7:uc011kuc.2:exon1:c.A257T:p.H86L OR2A7:NM_001005328:exon1:c.A257T:p.H86L . . 0.11647727 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.125 . . 352.0 . . . . . . . . . . -1.3687 -1.379 -1.369 c . . . . . 2.535e-05 . . . 0.0004 6.575e-05 0 0 0 7.365e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.001 . . 0.089 . . . 0.027 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.182 . . . . . 0.155 . 0.189 . LowAF 0.21 rs755621211 . . . . . . . . . . . . V.03 . ENST00000493325 II.95 -2.38 . 0.250000 Q96R45 . . . . . 0.038 . . . 0.0073 0.0005 0.0005 0.0003 0 0 5.591e-05 0.0005 0.0001 0.0064 0.0018 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -0.519 -0.519000 . . 0.250000 . . 1.0E-182 0.000 0.063 . 0.214 0.002 . 0.006 . 0.043 -0.519 -0.555 . . . . . 1 1538 10 1/0 0,173,255 +rs779626866 7 143956466 G T - ARHGEF34P 38086 Rho guanine nucleotide exchange factor (GEF) 34, pseudogene NR_033942.1 -1 4204 0 substitution exon GRCh37 143956466 143956466 Chr7(GRCh37):g.143956466G>T 3827 3827 NR_033942.1:n.3827C>A 13 260 3' 82.9643 7.75451 0.961476 4.70814 82.9643 7.75451 0.961476 4.70814 0 rs779626866 yes no Frequency 1 G 0.000000 0 0.000631 0.006505 0.000501 0.000273 0.000000 0.000129 0.000095 0.000000 0.000620 0.006505 121 92 13 2 0 3 8 0 3 191708 14144 25952 7326 15256 23250 84482 16460 4838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 92 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.247 189 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.C256A:p.H86N OR2A7:uc011kuc.2:exon1:c.C256A:p.H86N OR2A7:NM_001005328:exon1:c.C256A:p.H86N . . 0.13150685 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.152 . . 365.0 . . . . . . . . . . -1.6432 -1.704 -1.643 c . . . . . 2.532e-05 . . . 0.0004 6.547e-05 0 0 0 7.332e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.032 @ . . . 0.38 0.3 182 ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.002 . . 0.100 . . . 0.081 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.048 . . . . . 0.165 . 0.045 . LowAF 0.67 rs779626866 . . . . . . . . . . . . V.44 . ENST00000493325 II.95 -4.49 . 0.490000 Q96R45 . . . . . 0.033 . . . 0.0070 0.0005 0.0005 0.0003 0 0 5.55e-05 0.0005 0.0001 0.0058 0.0016 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -1.033 -1.033000 . . 0.490000 . . 1.0E-189 0.000 0.063 . 0.211 0.002 . 0.001 . 0.038 -1.033 -1.002 . rs62423426 rs62423426 rs62423426 rs62423426 1 1538 10 1/0 0,173,255 +rs779626866 7 143956466 G T - OR2A1-AS1 49168 OR2A1 antisense RNA 1 NR_126023.1 -1 946 0 substitution intron GRCh37 143956466 143956466 Chr7(GRCh37):g.143956466G>T 608-19630 608-19630 NR_126023.1:n.608-19630C>A p.? p.? 4 3 -19630 3' 94.9235 7.43713 0.931247 2.04708 94.9235 7.43713 0.931247 2.04708 0 rs779626866 yes no Frequency 1 G 0.000000 0 0.000631 0.006505 0.000501 0.000273 0.000000 0.000129 0.000095 0.000000 0.000620 0.006505 121 92 13 2 0 3 8 0 3 191708 14144 25952 7326 15256 23250 84482 16460 4838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 92 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.247 189 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.C256A:p.H86N OR2A7:uc011kuc.2:exon1:c.C256A:p.H86N OR2A7:NM_001005328:exon1:c.C256A:p.H86N . . 0.13150685 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.152 . . 365.0 . . . . . . . . . . -1.6432 -1.704 -1.643 c . . . . . 2.532e-05 . . . 0.0004 6.547e-05 0 0 0 7.332e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.032 @ . . . 0.38 0.3 182 ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.002 . . 0.100 . . . 0.081 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.048 . . . . . 0.165 . 0.045 . LowAF 0.67 rs779626866 . . . . . . . . . . . . V.44 . ENST00000493325 II.95 -4.49 . 0.490000 Q96R45 . . . . . 0.033 . . . 0.0070 0.0005 0.0005 0.0003 0 0 5.55e-05 0.0005 0.0001 0.0058 0.0016 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -1.033 -1.033000 . . 0.490000 . . 1.0E-189 0.000 0.063 . 0.211 0.002 . 0.001 . 0.038 -1.033 -1.002 . rs62423426 rs62423426 rs62423426 rs62423426 1 1538 10 1/0 0,173,255 +rs779626866 7 143956466 G T - OR2A7 8234 Olfactory receptor, family 2, subfamily A, member 7 NM_001005328.1 -1 933 933 NP_001005328.1 Q96R45 substitution missense exon GRCh37 143956466 143956466 Chr7(GRCh37):g.143956466G>T 256 256 NM_001005328.1:c.256C>A p.His86Asn p.His86Asn 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs779626866 yes no Frequency 1 G 0.000000 0 0.000631 0.006505 0.000501 0.000273 0.000000 0.000129 0.000095 0.000000 0.000620 0.006505 121 92 13 2 0 3 8 0 3 191708 14144 25952 7326 15256 23250 84482 16460 4838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 92 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.247 H His CAT 0.413 N Asn AAT 0.464 86 9 2 Macaque 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 125.69 0.00 Tolerated 0.51 III.89 good 9.168E-1 0.194 189 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.C256A:p.H86N OR2A7:uc011kuc.2:exon1:c.C256A:p.H86N OR2A7:NM_001005328:exon1:c.C256A:p.H86N . . 0.13150685 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.152 . . 365.0 . . . . . . . . . . -1.6432 -1.704 -1.643 c . . . . . 2.532e-05 . . . 0.0004 6.547e-05 0 0 0 7.332e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.032 @ . . . 0.38 0.3 182 ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.002 . . 0.100 . . . 0.081 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.048 . . . . . 0.165 . 0.045 . LowAF 0.67 rs779626866 . . . . . . . . . . . . V.44 . ENST00000493325 II.95 -4.49 . 0.490000 Q96R45 . . . . . 0.033 . . . 0.0070 0.0005 0.0005 0.0003 0 0 5.55e-05 0.0005 0.0001 0.0058 0.0016 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -1.033 -1.033000 . . 0.490000 . . 1.0E-189 0.000 0.063 . 0.211 0.002 . 0.001 . 0.038 -1.033 -1.002 . rs62423426 rs62423426 rs62423426 rs62423426 1 1538 10 1/0 0,173,255 +rs149695333 7 144304165 T A - TPK1 17358 Thiamin pyrophosphokinase 1 NM_001350879.1 -1 2589 732 NP_001337808.1 Q9H3S4 substitution intron GRCh37 144304165 144304165 Chr7(GRCh37):g.144304165T>A 355-15503 355-15503 NM_001350879.1:c.355-15503A>T p.? p.? 7 6 606370 -15503 3' 80.2132 10.0071 0.983105 7.58669 80.2132 10.0071 0.983105 7.58669 0 rs149695333 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.001000 0.001400 0.000702 0.000071 0.000636 0.002188 0.000000 0.000427 0.001061 0.000055 0.000914 0.002188 113 1 14 18 0 9 66 1 4 160934 14168 22026 8228 10594 21092 62214 18234 4378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 113 1 14 18 0 9 66 1 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.031 1.900 255 PASS 0.002 0.0009 0.0028 . . 0.0008 0.0006 0.0014 . 0.001 . . . . . . 0.5 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.4075 . . . . . . . . 5.303e-04 . . . 0 0.0007 0 0 0 0.0016 0 0.0003 0 0.0007 0 0 0 0.0021 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.49 0.25 182 ENSG00000196511 TPK1 TPK1 . . . . . . 33 0.00050788 64976 30 0.000500117 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149695333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.57 0.0002 0.0008 0.0006 0.0021 0 6.783e-05 0.0012 0.0012 0.0004 0 0.0004 0.0012 0.0033 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs149695333 rs149695333 1 1538 10 1/0 0,255,255 +. 7 147335896 A G - CNTNAP2 13830 Contactin associated protein-like 2 NM_014141.5 1 9894 3996 NP_054860.1 Q9UHC6 substitution intron GRCh37 147335896 147335896 Chr7(GRCh37):g.147335896A>G 1898-302 1898-302 NM_014141.5:c.1898-302A>G p.? p.? 13 12 604569 -302 3' 88.414 X.78 0.976987 11.553 88.414 X.78 0.976987 11.553 0 rs975393189 no no 0 A 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000026 0.000070 0.000000 0.000070 2 0 0 0 0 0 1 1 0 101600 5826 12546 4866 7784 14842 38944 14300 2492 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition A G A>G 0.000 -0.844 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||CNTNAP2|mRNA|CODING|NM_014141|) . . . . . . . -0.3199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000174469 CNTNAP2 CNTNAP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.968e-05 0 0 0 6.993e-05 2.568e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 148106465 C CTCTT - CNTNAP2 13830 Contactin associated protein-like 2 NM_014141.5 1 9894 3996 NP_054860.1 Q9UHC6 duplication intron GRCh37 148106476 148106477 Chr7(GRCh37):g.148106473_148106476dup 3716-10 3716-7 NM_014141.5:c.3716-10_3716-7dup p.? p.? 23 22 604569 -6 3' 91.1942 X.96 0.987822 X.97 91.1942 12.376 0.993277 X.55 0.05479 rs142426153 yes no Frequency/1000G 2 uncertain_significance 0.000000 0 0.000023 0.000317 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000317 3 2 1 0 0 0 0 0 0 128392 6304 26902 6296 12576 14520 51050 7592 3152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes 4059 1590 5649 4179 2666 6845 0.492717 0.37359 0.452137 0.507283 0.62641 0.547863 75 RCV000081602.9|RCV000116773.1 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|VUS 1|1 not specified|not provided TTCT 255 Pass 0.7 0.52 0.36 0.37 0.58 . . . . . . . . . . . 0.7941176 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . other|Uncertain_significance RCV000081602.8|RCV000116773.1 not_specified|not_provided MedGen|MedGen CN169374|CN221809 2 . . . 34 . . INTRON(MODIFIER||||CNTNAP2|mRNA|CODING|NM_014141|) 0.63 0.55 0.51 0.63 0.55 0.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000174469 CNTNAP2 CNTNAP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs142426153 . . . . CLINSIG\x3dnon-pathogenic|unknown\x3bCLNDBN\x3dnot_specified|not_provided\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000081602.3|RCV000116773.1\x3bCLNDSDB\x3dMedGen|MedGen\x3bCLNDSDBID\x3dCN169374|CN221809 CLINSIG\x3dnon-pathogenic|unknown\x3bCLNDBN\x3dnot_specified|not_provided\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000081602.3|RCV000116773.1\x3bCLNDSDB\x3dMedGen|MedGen\x3bCLNDSDBID\x3dCN169374|CN221809 . . . . . . . . . . . . . . . . Name\x3desv2441804 0.549696 . . . . . 0.0004 2.439e-05 3.774e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.7 . . rs142426153 rs142426153 1 1538 10 1.I 0,8,10 +. 7 148877029 TG T - ZNF398 18373 Zinc finger protein 398 NM_170686.2 1 5445 1929 NP_733787.1 Q8TD17 deletion 3'UTR GRCh37 148877030 148877030 Chr7(GRCh37):g.148877030del *137 *137 NM_170686.2:c.*137del p.? p.? 6 1291 3' 93.3337 7.36765 0.978014 6.28428 93.3337 7.36765 0.978014 6.28428 0 Cryptic Acceptor Strongly Activated 148877036 0.622596 0.001883 63.189 0.848405 0.111064 70.607 G 255 Pass . . . . . . . . . . . . . . . . 0.3448276 . . . 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000197024 ZNF398 ZNF398 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv889402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 7 148921866 T TC - ZNF282 13076 Zinc finger protein 282 NM_003575.3 1 3744 2016 NP_003566.1 Q9UDV7 duplication 3'UTR GRCh37 148921870 148921871 Chr7(GRCh37):g.148921870dup *131 *131 NM_003575.3:c.*131dup p.? p.? 8 603397 967 3' 87.6957 13.3004 0.994865 16.1526 87.6957 13.3004 0.994865 16.1526 0 rs11421364 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30921 8712 838 300 1620 0 14979 3492 980 30922 8712 838 300 1620 0 14980 3492 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15460 4356 419 150 810 0 7489 1746 490 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 48 Genomes C 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.88235295 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000170265 ZNF282 ZNF282 ENST00000262085:c.*127_*128insC . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11421364 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11421364 rs11421364 rs11421364 1 1538 10 1.I 0,5,5 +. (chr7:148985758 C/G) 7 148985758 C G Not on a known gene +. (chr7:148985762 C/T) 7 148985762 C T Not on a known gene +. 7 149128641 C T - ZNF777 22213 Zinc finger protein 777 NM_015694.2 -1 3072 2496 NP_056509.2 substitution 3'UTR GRCh37 149128641 149128641 Chr7(GRCh37):g.149128641C>T *226 *226 NM_015694.2:c.*226G>A p.? p.? 6 1383 3' 0 4.38235 0.087651 3.79122 0 4.38235 0.087651 3.79122 0 rs988562530 yes no Frequency 1 C 0.000000 0 0.000055 0.000000 0.000093 0.000000 0.000000 0.000047 0.000058 0.000000 0.000295 0.000093 7 0 2 0 0 1 3 0 1 126882 5664 21528 7920 9058 21140 51408 6774 3390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 2 0 0 1 3 0 1 0 0 0 0 0 0 0 0 0 PASS 46 Exomes transition G A G>A 1.000 1.820 255 PASS . . . . . . . . . . . . . . . . 0.38181818 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . UTR_3_PRIME(MODIFIER||||ZNF777|mRNA|CODING|NM_015694|NM_015694.ex.6) . . . . . . . 0.0637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000196453 ZNF777 ZNF777 ENST00000247930:c.*226G>A uc003wfv.3:c.*226G>A NM_015694:c.*226G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . 15.1486 . ENST00000314683 IV.71 IV.71 . 0.820000 . . . . . . . . . IV.71 0 5.517e-05 9.29e-05 0 0 0 5.836e-05 0.0003 4.73e-05 . . . . . . . . . . . . 2.170 2.170000 . . 0.820000 . . 1.0E-255 . . . . . . . . . 2.170 . . . . . . 1 1538 10 1/0 0,255,255 +rs9657892 7 150434689 C T - GIMAP1-GIMAP5 51257 GIMAP1-GIMAP5 readthrough NM_001199577.1 1 2262 1536 NP_001186506.1 substitution missense exon GRCh37 150434689 150434689 Chr7(GRCh37):g.150434689C>T 499 499 NM_001199577.1:c.499C>T p.Arg167Cys p.Arg167Cys 4 97 3' 92.6888 IX.07 0.91776 9.74979 92.6888 IX.07 0.91776 9.74979 0 Cryptic Acceptor Strongly Activated 150434688 2.64802 0.029507 71.5154 3.64394 0.1097 71.5154 rs9657892 yes no Frequency/1000G 2 C 0.000000 0 0.005990 0.000800 0.000000 0.000000 0.024900 0.005800 0.009391 0.002952 0.008339 0.005386 0.000000 0.002629 0.016005 0.010800 0.008032 0.016005 1462 43 204 44 0 59 981 95 36 155680 14564 24462 8170 11470 22444 61292 8796 4482 0.000116 0.000000 0.000082 0.000000 0.000000 0.000000 0.000261 0.000000 0.000000 9 0 1 0 0 0 8 0 0 1444 43 202 44 0 59 965 95 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 1.093 R Arg CGC 0.190 C Cys TGC 0.552 167 12 2 Chicken -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0.01 0.01 . 0.02 0.0008 0.006 0.0058 . 0.025 . . GIMAP1-GIMAP5:uc022apw.1:exon4:c.C499T:p.R167C . . . 0.4054054 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.176 . @ . . . . . 1 0.126 . . 74.0 . . . . . . . . . . 0.2733 1.194 0.273 n . . . . . 4.958e-03 . . . 0.0052 0.0056 0 0 . 0.0121 0 0.0035 0.0053 0.0056 0 0 . 0.0122 0 0.0035 . nonsynonymous_SNV nonsynonymous_SNV . . . UTR5 exonic exonic . . 0.219 0.0060 . . . 0.67 0.78 182 ENSG00000196329 GIMAP1-GIMAP5 GIMAP1-GIMAP5 ENST00000358647:c.-3284C>T . . 1.000 0.747 . 847 0.0130356 64976 818 0.0136365 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.230 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.209 . 0.083 . HET . rs9657892 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . 0.044 . . . 0.0039 0.0093 0.0083 0.0056 0 0.0106 0.0164 0.0089 0.0026 0.0023 0.0096 0.0095 0 0 0.0112 0.0149 0.0051 . . 0.019 . . . . . . . . 1.0E-255 0.004 0.165 . 0.083 0.029 . 0.212 . 0.320 . 0.356 0.02 rs9657892 rs9657892 rs9657892 rs9657892 1 1538 10 1/0 0,255,255 +rs9657892 7 150434689 C T - GIMAP5 18005 GTPase, IMAP family member 5 NM_018384.4 1 1877 924 NP_060854.2 Q96F15 substitution 5'UTR GRCh37 150434689 150434689 Chr7(GRCh37):g.150434689C>T -114 -114 NM_018384.4:c.-114C>T p.? p.? 1 608086 -108 5' 86.4701 9.67503 0.995177 7.152 86.4701 9.67503 0.995177 7.152 0 Cryptic Acceptor Strongly Activated 150434688 2.64802 0.029507 71.5154 3.64394 0.1097 71.5154 rs9657892 yes no Frequency/1000G 2 C 0.000000 0 0.005990 0.000800 0.000000 0.000000 0.024900 0.005800 0.009391 0.002952 0.008339 0.005386 0.000000 0.002629 0.016005 0.010800 0.008032 0.016005 1462 43 204 44 0 59 981 95 36 155680 14564 24462 8170 11470 22444 61292 8796 4482 0.000116 0.000000 0.000082 0.000000 0.000000 0.000000 0.000261 0.000000 0.000000 9 0 1 0 0 0 8 0 0 1444 43 202 44 0 59 965 95 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 1.093 255 PASS . 0.01 0.01 . 0.02 0.0008 0.006 0.0058 . 0.025 . . GIMAP1-GIMAP5:uc022apw.1:exon4:c.C499T:p.R167C . . . 0.4054054 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.176 . @ . . . . . 1 0.126 . . 74.0 . . . . . . . . . . 0.2733 1.194 0.273 n . . . . . 4.958e-03 . . . 0.0052 0.0056 0 0 . 0.0121 0 0.0035 0.0053 0.0056 0 0 . 0.0122 0 0.0035 . nonsynonymous_SNV nonsynonymous_SNV . . . UTR5 exonic exonic . . 0.219 0.0060 . . . 0.67 0.78 182 ENSG00000196329 GIMAP1-GIMAP5 GIMAP1-GIMAP5 ENST00000358647:c.-3284C>T . . 1.000 0.747 . 847 0.0130356 64976 818 0.0136365 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.230 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.209 . 0.083 . HET . rs9657892 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . 0.044 . . . 0.0039 0.0093 0.0083 0.0056 0 0.0106 0.0164 0.0089 0.0026 0.0023 0.0096 0.0095 0 0 0.0112 0.0149 0.0051 . . 0.019 . . . . . . . . 1.0E-255 0.004 0.165 . 0.083 0.029 . 0.212 . 0.320 . 0.356 0.02 rs9657892 rs9657892 rs9657892 rs9657892 1 1538 10 1/0 0,255,255 +. 7 151049002 A AACACAC - NUB1 17623 Negative regulator of ubiquitin-like proteins 1 NM_001243351.1 1 3172 1920 NP_001230280.1 duplication intron GRCh37 151049022 151049023 Chr7(GRCh37):g.151049017_151049022dup 416+449 416+454 NM_001243351.1:c.416+449_416+454dup p.? p.? 4 4 607981 454 5' 87.864 10.0774 0.994916 5.15702 87.864 10.0774 0.994916 5.15702 0 rs3838706 no no 0 0.000000 0 ACACAC 255 Pass . . . . . . . . . . . . . . . . 0.7777778 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000013374 NUB1 NUB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs3838706 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv509225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,11 +rs58528565 7 151927023 G C - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution stop gain exon GRCh37 151927023 151927023 Chr7(GRCh37):g.151927023G>C 2961 2961 NM_170606.2:c.2961C>G p.Tyr987* p.Tyr987* 18 606833 -16 5' 81.7632 8.138 0.971805 0.520102 81.7632 8.138 0.971805 0 0 New Acceptor Site 151927022 4.238 0.059666 69.3688 Zinc finger, PHD-finger Zinc finger, RING-type Zinc finger, PHD-type rs58528565 yes no Frequency 1 G 0.000000 0 COSM216053|COSM216053 Thyroid|Central nervous system 0.001307|0.000755 765|2648 transversion C G C>G 1.000 3.111 Y Tyr TAC 0.562 * * TAG 0.234 987 196 PASS . . . . . . . . . . . . . KMT2C:NM_170606:exon18:c.C2961G:p.Y987X . . 0.15053764 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.976 . @ . . . . . 0 0.744 . . 93.0 . . STOP_GAINED(HIGH|NONSENSE|taC/taG|Y987*|KMT2C|mRNA|CODING|NM_170606|NM_170606.ex.18) . . . . . . . 0.5713 0.398 0.571 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.320 @ . . . 0.52 0.44 182 ENSG00000055609 KMT2C KMT2C . . . 0.114 0.167 . . . . . . . Likely_pathogenic . 0 . 0.375 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.481 . . . HET 1 rs58528565 . . . . . . . . . . . . XI.97 . . IV.67 II.83 . 1.000000 . . . . . . 0.712 . . II.83 . . . . . . . . . . . . . . . . . . . 0.465 . 0.487 0.487000 . . . . . 1.0E-196 1.000 0.715 . 0.697 0.999 . 0.536 . 0.195 0.487 -0.021 . rs58528565 rs58528565 rs58528565 rs58528565 1 1538 10 1/0 0,234,255 +rs60244562 7 151927067 T C - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution missense exon GRCh37 151927067 151927067 Chr7(GRCh37):g.151927067T>C 2917 2917 NM_170606.2:c.2917A>G p.Arg973Gly p.Arg973Gly 18 606833 46 3' 93.7948 10.0509 0.826544 4.40648 93.7948 10.0509 0.826544 IV.29 0 Zinc finger, PHD-finger Zinc finger, RING-type Zinc finger, PHD-type rs60244562 no no 0 T 0.000000 0 COSM4161994|COSM4161994|COSM4161994 Thyroid|Large intestine|Bone 0.001307|0.000374|0.001580 765|2672|633 transition A G A>G 0.992 0.609 R Arg AGA 0.205 G Gly GGA 0.246 973 22 18 Tetraodon -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0.02 III.63 bad 5.178E-5 0.0001143 196 PASS . . . . . . . . . . . . . KMT2C:NM_170606:exon18:c.A2917G:p.R973G . . 0.15116279 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.674 . @ . . . . . 1 0.698 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R973G|KMT2C|mRNA|CODING|NM_170606|NM_170606.ex.18) . . . . . . . 0.2027 0.153 0.203 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.874 . . exonic exonic exonic . . 0.261 @ . . . 0.57 0.5 182 ENSG00000055609 KMT2C KMT2C . . . 0.000 0.054 . . . . . . . Uncertain_significance . 0 . 0.449 . . . . D 0.816 0.133 . . 37 . 0.883 . . 0.863 . . . 0.612 0.404 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.775 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.481 . . . . . 0.596 . 0.922 . HET 0.02 rs60244562 . . . . . . ID\x3dCOSM4161994\x3bOCCURENCE\x3d1(thyroid) . . . . . 13.311 . . IV.67 2.I . 0.090000 . . . . . . 0.483 . . 2.I . . . . . . . . . . . . . . . . . . . 0.465 . 0.200 0.200000 . . 0.090000 . . 1.0E-196 1.000 0.715 . 0.888 0.999 . 0.303 . 0.627 0.200 0.991 . rs60244562 rs60244562 rs60244562 rs60244562 1 1538 10 1/0 0,237,255 +rs80348298 7 151932819 T A - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution intron GRCh37 151932819 151932819 Chr7(GRCh37):g.151932819T>A 2769+83 2769+83 NM_170606.2:c.2769+83A>T p.? p.? 16 16 606833 83 5' 78.6034 5.50481 0.64152 0 78.6034 5.50481 0.64152 0 0 rs80348298 yes no Frequency/1000G 2 T 0.000000 0 0.498203 0.501500 0.502000 0.499000 0.491100 0.495700 transversion A T A>T 0.008 1.174 241 PASS . . . . . 0.5 0.5 0.5 0.5 0.49 0.5 . . . . . 0.2857143 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||KMT2C|mRNA|CODING|NM_170606|) . . . . . . . 0.2749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4982 . . . 0.52 0.25 182 ENSG00000055609 KMT2C KMT2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80348298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.73 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . rs80348298 rs80348298 1 1538 10 1/0 0,255,255 +rs78860638 7 151932824 A T - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution intron GRCh37 151932824 151932824 Chr7(GRCh37):g.151932824A>T 2769+78 2769+78 NM_170606.2:c.2769+78T>A p.? p.? 16 16 606833 78 5' 78.6034 5.50481 0.64152 0 78.6034 5.50481 0.64152 0 0 rs78860638 no no 0 A 0.000000 0 transversion T A T>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||KMT2C|mRNA|CODING|NM_170606|) . . . . . . . 0.0504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.19 182 ENSG00000055609 KMT2C KMT2C . . . . . . 23280 0.358286 64976 22236 0.370687 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78860638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78860638 rs78860638 1 1538 10 1/0 0,255,255 +rs201452267 7 151935798 G T - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution synonymous exon GRCh37 151935798 151935798 Chr7(GRCh37):g.151935798G>T 2646 2646 NM_170606.2:c.2646C>A p.Ile882= p.Ile882Ile 15 606833 -7 5' 76.2827 5.1791 0.978796 0 76.2827 5.1791 0.980069 0 0.000433526 rs201452267 no no 0 G 0.000000 0 COSM4162004 Thyroid 0.003922 765 transversion C A C>A 1.000 3.918 I Ile ATC 0.481 I Ile ATA 0.163 882 255 PASS . . . . . . . . . . . . KMT2C:uc003wla.3:exon15:c.C2646A:p.I882I KMT2C:NM_170606:exon15:c.C2646A:p.I882I . . 0.3478261 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 23.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atA|I882|KMT2C|mRNA|CODING|NM_170606|NM_170606.ex.15) . . . . . . . I.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.63 0.57 182 ENSG00000055609 KMT2C KMT2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201452267 . . . . . . ID\x3dCOSM4162004\x3bOCCURENCE\x3d3(thyroid) . . . . . . . . . . . . . . . . . . . . . V.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201452267 rs201452267 1 1538 10 1/0 0,255,255 +rs199839047 7 151935799 A G - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution missense exon GRCh37 151935799 151935799 Chr7(GRCh37):g.151935799A>G 2645 2645 NM_170606.2:c.2645T>C p.Ile882Thr p.Ile882Thr 15 606833 -8 5' 76.2827 5.1791 0.978796 0 76.2827 5.1791 0.978796 0 0 rs199839047 no no 0 A 0.000000 0 COSM4162006 Thyroid 0.003922 765 transition T C T>C 1.000 4.725 I Ile ATC 0.481 T Thr ACC 0.361 882 22 17 Chicken -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Deleterious 0.01 III.63 bad 2.601E-4 0.0003309 255 PASS . . . . . . . . . . . . KMT2C:uc003wla.3:exon15:c.T2645C:p.I882T KMT2C:NM_170606:exon15:c.T2645C:p.I882T . . 0.3478261 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.569 . @ . . . . . 1 0.757 . . 23.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I882T|KMT2C|mRNA|CODING|NM_170606|NM_170606.ex.15) . . . . . . . 0.6364 0.666 0.636 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.856 . . exonic exonic exonic . . 0.825 @ . . . 0.62 0.58 182 ENSG00000055609 KMT2C KMT2C . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.447 . . . . D 0.729 0.078 . . 37 . 0.866 . . 0.882 . . . 0.520 0.467 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.644 . . 0 0 0 0 0 0 . 0.637 . . 0.562 . . . . . . 0 0.784 . . . . . 0.796 . 0.620 . HET 0.01 rs199839047 . . . . . . ID\x3dCOSM4162006\x3bOCCURENCE\x3d3(thyroid) . . . . . 15.9548 . . V.53 V.53 . 0.000000 Q8NEZ4 . . . . . 0.750 . . V.53 . . . . . . . . . . . . . . . . . . . 0.372 . 2.219 2.219000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.907 . 0.960 2.219 1.062 . . . rs199839047 rs199839047 1 1538 10 1/0 0,255,255 +. (chr7:157234278 C/T) 7 157234278 C T Not on a known gene +rs142911787 7 158902695 G A - VIPR2 12695 Vasoactive intestinal peptide receptor 2 NM_003382.4 -1 3944 1317 NP_003373.2 P41587 substitution intron GRCh37 158902695 158902695 Chr7(GRCh37):g.158902695G>A 152-85 152-85 NM_003382.4:c.152-85C>T p.? p.? 3 2 601970 -85 3' 89.1345 10.1052 0.961136 15.6126 89.1345 10.1052 0.961136 15.6126 0 Cryptic Donor Strongly Activated 158902697 51.9286 1.55845 0.013859 65.3647 rs142911787 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.001000 0.000000 0.000000 0.000000 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30962 8724 836 302 1622 0 15006 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.000 -0.198 255 PASS . . . . . 0.0008 0.0004 . . . 0.001 . . . . . 0.4489796 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.1676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.34 0.43 182 ENSG00000106018 VIPR2 VIPR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142911787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.23e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs4045962 8 163419 G A - RPL23AP53 35921 Ribosomal protein L23a pseudogene 53 NR_003572.2 -1 5789 0 substitution exon GRCh37 163419 163419 Chr8(GRCh37):g.163419G>A 714 714 NR_003572.2:n.714C>T 4 292 3' 74.5452 3.43703 0.223311 0 74.5452 3.43703 0.223311 0 0 Cryptic Acceptor Strongly Activated 163405 1.16158 0.0006 63.1081 1.32735 0.000657 65.8809 rs4045962 yes no Frequency/1000G 2 0.000000 0 0.263578 0.447800 0.217800 0.172600 0.200800 0.200300 0.001566 0.000232 0.000000 0.000000 0.000000 0.000000 0.002604 0.000783 0.001404 0.002604 32 1 0 0 0 0 28 2 1 20430 4306 620 248 1238 0 10752 2554 712 0.093750 0.000000 0.000000 0.000000 0.000000 0.000000 0.107143 0.000000 0.000000 3 0 0 0 0 0 3 0 0 26 1 0 0 0 0 22 2 1 0 0 0 0 0 0 0 0 0 PASS 49 Genomes transition C T C>T 1.000 0.125 216 PASS . . . . . 0.45 0.26 0.2 0.17 0.2 0.22 . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F238|RPL23AP53|Non-coding_transcript|NON_CODING|NR_003572|NR_003572.ex.4) . . . . . . . -0.3850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . 0.2636 . . . 0.38 0.12 182 ENSG00000223508 RPL23AP53 RPL23AP53 . uc010lrb.4:c.*52C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4045962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0016 0 0 0 0.0008 0.0026 0.0014 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs4045962 rs4045962 rs4045962 rs4045962 1 1538 10 1/0 0,255,255 +rs4045963 8 163420 A G - RPL23AP53 35921 Ribosomal protein L23a pseudogene 53 NR_003572.2 -1 5789 0 substitution exon GRCh37 163420 163420 Chr8(GRCh37):g.163420A>G 713 713 NR_003572.2:n.713T>C 4 291 3' 74.5452 3.43703 0.223311 0 74.5452 3.43703 0.223311 0 0 Cryptic Acceptor Weakly Activated 163405 1.16158 0.0006 63.1081 1.81554 0.000622 63.1081 rs4045963 yes no Frequency/1000G 2 0.000000 0 0.263578 0.447800 0.217800 0.172600 0.200800 0.200300 transition T C T>C 1.000 2.546 209 PASS . . . . . 0.45 0.26 0.2 0.17 0.2 0.22 . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 32.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F238S|RPL23AP53|Non-coding_transcript|NON_CODING|NR_003572|NR_003572.ex.4) . . . . . . . 0.0688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . 0.2636 . . . 0.38 0.15 182 ENSG00000223508 RPL23AP53 RPL23AP53 . uc010lrb.4:c.*51T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4045963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs4045963 rs4045963 rs4045963 rs4045963 1 1538 10 1/0 0,255,255 +rs4045964 8 163421 A T - RPL23AP53 35921 Ribosomal protein L23a pseudogene 53 NR_003572.2 -1 5789 0 substitution exon GRCh37 163421 163421 Chr8(GRCh37):g.163421A>T 712 712 NR_003572.2:n.712T>A 4 290 3' 74.5452 3.43703 0.223311 0 74.5452 3.43703 0.223311 0 0 rs4045964 yes no Frequency/1000G 2 0.000000 0 0.263578 0.447800 0.217800 0.172600 0.200800 0.200300 transversion T A T>A 1.000 1.174 209 PASS . . . . . 0.45 0.26 0.2 0.17 0.2 0.22 . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 32.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Atc|F238I|RPL23AP53|Non-coding_transcript|NON_CODING|NR_003572|NR_003572.ex.4) . . . . . . . -0.3226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . 0.2636 . . . 0.38 0.15 182 ENSG00000223508 RPL23AP53 RPL23AP53 . uc010lrb.4:c.*50T>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4045964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs4045964 rs4045964 rs4045964 rs4045964 1 1538 10 1/0 0,255,255 +rs200599414 8 182972 T C - RPL23AP53 35921 Ribosomal protein L23a pseudogene 53 NR_003572.2 -1 5789 0 substitution upstream GRCh37 182972 182972 Chr8(GRCh37):g.182972T>C -654 -654 NR_003572.2:n.-654A>G p.? p.? 1 -844 5' 90.5431 9.14378 0.984706 5.98975 90.5431 9.14378 0.984706 5.98975 0 rs200599414 no no 0 0.000000 0 0.003504 0.009596 0.000000 0.000000 0.000000 0.000000 0.001865 0.000864 0.001106 0.009596 98 68 0 0 0 0 26 3 1 27968 7086 810 258 1498 0 13940 3472 904 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 98 68 0 0 0 0 26 3 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition A G A>G 0.004 -0.037 189 PASS . . . . . . . . . . . . . . . . 0.13375796 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 157.0 . . . . . . . . . . 0.9096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.24 182 ENSG00000172748 ZNF596 ZNF596 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200599414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0096 0.0035 0 0 0 0.0009 0.0019 0.0011 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs200599414 rs200599414 1 1538 10 1/0 0,210,255 +rs200599414 8 182972 T C - ZNF596 27268 Zinc finger protein 596 NM_001042415.2 1 2730 1515 NP_001035880.1 Q8TC21 substitution intron GRCh37 182972 182972 Chr8(GRCh37):g.182972T>C 275 275 NM_001042415.2:c.-73+348T>C p.? p.? 1 1 348 5' 58.5076 0 0.005469 0 58.5076 0 0.005469 0 0 rs200599414 no no 0 0.000000 0 0.003504 0.009596 0.000000 0.000000 0.000000 0.000000 0.001865 0.000864 0.001106 0.009596 98 68 0 0 0 0 26 3 1 27968 7086 810 258 1498 0 13940 3472 904 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 98 68 0 0 0 0 26 3 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition T C T>C 0.004 -0.037 189 PASS . . . . . . . . . . . . . . . . 0.13375796 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 157.0 . . . . . . . . . . 0.9096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.24 182 ENSG00000172748 ZNF596 ZNF596 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200599414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0096 0.0035 0 0 0 0.0009 0.0019 0.0011 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs200599414 rs200599414 1 1538 10 1/0 0,210,255 +rs34076886 (chr8:424663 T/A) 8 424663 T A Not on a known gene +rs6984304 8 609085 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609085 609085 Chr8(GRCh37):g.609085G>A *5518 *5518 NM_207332.2:c.*5518C>T p.? p.? 6 5592 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs6984304 yes no Frequency/1000G 2 G 0.000000 0 0.001415 0.001543 0.000000 0.000000 0.000000 0.000000 0.001120 0.001626 0.007752 0.001626 11 3 0 0 0 0 4 2 2 7772 1944 318 86 364 0 3572 1230 258 0.090909 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 1 0 0 0 0 0 0 0 1 9 3 0 0 0 0 4 2 0 0 0 0 0 0 0 0 0 0 RF 65 Genomes transition C T C>T 0.988 1.013 197 PASS 0.09 0.14 0.17 0.12 0.18 . . . . . . . . . . . 0.15384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.0719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d14685\x3bdist\x3d5115 . . . . 6309 0.0970974 64976 6013 0.10024 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6984304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0014 0 0 0 0.0016 0.0011 0.0078 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.18 rs6984304 rs6984304 rs6984304 rs6984304 1 1538 10 1/0 0,255,255 +rs201356697 8 609087 T G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609087 609087 Chr8(GRCh37):g.609087T>G *5516 *5516 NM_207332.2:c.*5516A>C p.? p.? 6 5590 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs201356697 yes no Frequency 1 T 0.000000 0 transversion A C A>C 0.980 -0.279 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.0477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.06 182 ENSG00000104714 . ERICH1 . dist\x3d14687\x3bdist\x3d5113 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201356697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs201356697 rs201356697 1 1538 10 1/0 0,255,255 +rs1669678 8 609097 C G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609097 609097 Chr8(GRCh37):g.609097C>G *5506 *5506 NM_207332.2:c.*5506G>C p.? p.? 6 5580 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs1669678 no no 0 G 0.000000 0 0.002227 0.006024 0.003623 0.000000 0.000000 0.000000 0.000595 0.001905 0.000000 0.006024 16 11 1 0 0 0 2 2 0 7184 1826 276 82 350 0 3360 1050 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 11 1 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 RF 64 Genomes transversion G C G>C 0.972 -1.812 219 PASS . . . . . . . . . . . . . . . . 0.21276596 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.5440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.06 182 ENSG00000104714 . ERICH1 . dist\x3d14697\x3bdist\x3d5103 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1669678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0022 0.0036 0 0 0.0019 0.0006 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs1669678 rs1669678 rs1669678 rs1669678 1 1538 10 1/0 0,255,255 +rs17666723 8 609132 C G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609132 609132 Chr8(GRCh37):g.609132C>G *5471 *5471 NM_207332.2:c.*5471G>C p.? p.? 6 5545 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs17666723 yes no Frequency/1000G 2 G 0.000000 0 0.868810 0.757200 0.933500 0.924600 0.881700 0.890500 0.000139 0.000565 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000565 1 1 0 0 0 0 0 0 0 7202 1770 262 78 352 0 3332 1166 242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transversion G C G>C 0.039 -1.812 111 PASS 0.81 0.81 0.8 0.85 0.79 0.76 0.87 0.89 0.92 0.88 0.93 . . . . . 1.0 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.9237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . 0.1312 . . . 0.19 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d14732\x3bdist\x3d5068 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs17666723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.85 rs17666723 rs17666723 rs17666723 rs17666723 1 1538 255 1.I 0,0,255 +rs28707353 8 609143 G C - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609143 609143 Chr8(GRCh37):g.609143G>C *5460 *5460 NM_207332.2:c.*5460C>G p.? p.? 6 5534 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 New Donor Site 609144 6.56754 0.647512 81.2997 rs28707353 yes no Frequency/1000G 2 G 0.000000 0 transversion C G C>G 0.972 -0.037 237 PASS 0.2 0.18 0.14 0.23 0.15 . . . . . . . . . . . 0.265625 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.3205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.25 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d14743\x3bdist\x3d5057 . . . . 290 0.00446319 64976 157 0.00261728 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28707353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.23 rs28707353 rs28707353 rs28707353 rs28707353 1 1538 10 1/0 0,255,255 +rs113165190 8 609177 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609177 609177 Chr8(GRCh37):g.609177G>A *5426 *5426 NM_207332.2:c.*5426C>T p.? p.? 6 5500 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs113165190 yes no Frequency 1 G 0.000000 0 0.001976 0.008130 0.000000 0.000000 0.045455 0.000000 0.000000 0.000000 0.000000 0.045455 3 2 0 0 1 0 0 0 0 1518 246 110 8 22 0 392 670 70 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 133 Genomes transition C T C>T 0.870 1.013 201 PASS . . . . . . . . . . . . . . . . 0.16042781 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.2533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.08 182 ENSG00000104714 . ERICH1 . dist\x3d14777\x3bdist\x3d5023 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113165190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0081 0.0020 0 0 0.0455 0 0 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs113165190 rs113165190 1 1538 10 1/0 0,204,255 +rs201835148 8 609223 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609223 609223 Chr8(GRCh37):g.609223G>A *5380 *5380 NM_207332.2:c.*5380C>T p.? p.? 6 5454 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs201835148 yes no Frequency 1 G 0.000000 0 0.003704 0.000000 0.000000 0.000000 0.000000 0.000000 0.012195 0.002347 0.000000 0.012195 3 0 0 0 0 0 2 1 0 810 92 62 2 12 0 164 426 52 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 226 Genomes transition C T C>T 0.008 0.125 182 PASS . . . . . . . . . . . . . . . . 0.11707317 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 410.0 . . . . . . . . . . -0.0284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.21 0.09 182 ENSG00000104714 . ERICH1 . dist\x3d14823\x3bdist\x3d4977 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201835148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0037 0 0 0 0.0023 0.0122 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs201835148 rs201835148 1 1538 10 1/0 0,166,255 +rs67509179 8 609281 C G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609281 609281 Chr8(GRCh37):g.609281C>G *5322 *5322 NM_207332.2:c.*5322G>C p.? p.? 6 5396 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs67509179 no no 0 G 0.000000 0 transversion G C G>C 0.024 -2.377 186 PASS . . . . . . . . . . . . . . . . 0.12546816 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 534.0 . . . . . . . . . . -0.5980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.17 0.11 182 ENSG00000104714 . ERICH1 . dist\x3d14881\x3bdist\x3d4919 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs67509179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs67509179 rs67509179 1 1538 10 1/0 0,156,253 +. 8 609361 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609361 609361 Chr8(GRCh37):g.609361G>A *5242 *5242 NM_207332.2:c.*5242C>T p.? p.? 6 5316 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 transition C T C>T 0.000 0.125 175 PASS . . . . . . . . . . . . . . . . 0.10182767 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 383.0 . . . . . . . . . . -0.1187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d14961\x3bdist\x3d4839 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,168,255 +rs67153609 8 609407 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609407 609407 Chr8(GRCh37):g.609407G>A *5196 *5196 NM_207332.2:c.*5196C>T p.? p.? 6 5270 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs67153609 yes no Frequency 1 0.000000 0 transition C T C>T 0.008 0.125 184 PASS . . . . . . . . . . . . . . . . 0.13569322 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 339.0 . . . . . . . . . . 0.0771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.16 0.11 182 ENSG00000104714 . ERICH1 . dist\x3d15007\x3bdist\x3d4793 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 rs67153609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . rs67153609 rs67153609 rs67153609 1 1538 10 1/0 0,177,255 +rs879408914 8 609419 G C - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609419 609419 Chr8(GRCh37):g.609419G>C *5184 *5184 NM_207332.2:c.*5184C>G p.? p.? 6 5258 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 New Donor Site 609420 6.56754 0.647512 81.2997 rs879408914 no no 0 0.000000 0 transversion C G C>G 0.531 -0.763 131 PASS . . . . . . . . . . . . . . . . 0.11564626 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 294.0 . . . . . . . . . . -0.0365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.17 0.06 182 ENSG00000104714 . ERICH1 . dist\x3d15019\x3bdist\x3d4781 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0.98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-131 . . . . . . . . . . . . . rs67509179 . . 1 1538 10 1/0 0,184,255 +rs200770689 8 609591 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609591 609591 Chr8(GRCh37):g.609591G>A *5012 *5012 NM_207332.2:c.*5012C>T p.? p.? 6 5086 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs200770689 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 90 2 8 2 0 0 2 64 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 664 Genomes transition C T C>T 0.331 0.044 208 PASS . . . . . . . . . . . . . . . . 0.18064517 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . . . . . . . . . -0.1027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.09 182 ENSG00000104714 . ERICH1 . dist\x3d15191\x3bdist\x3d4609 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200770689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs200770689 rs200770689 1 1538 10 1/0 0,215,255 +. 8 609637 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609637 609637 Chr8(GRCh37):g.609637G>A *4966 *4966 NM_207332.2:c.*4966C>T p.? p.? 6 5040 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 2 2 2 0 0 20 26 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 717 Genomes transition C T C>T 0.933 1.013 199 PASS . . . . . . . . . . . . . . . . 0.15789473 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . -0.3497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d15237\x3bdist\x3d4563 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 609683 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609683 609683 Chr8(GRCh37):g.609683G>A *4920 *4920 NM_207332.2:c.*4920C>T p.? p.? 6 4994 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 transition C T C>T 0.839 -1.247 184 PASS . . . . . . . . . . . . . . . . 0.121212125 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.5632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d15283\x3bdist\x3d4517 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +. 8 609685 T G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609685 609685 Chr8(GRCh37):g.609685T>G *4918 *4918 NM_207332.2:c.*4918A>C p.? p.? 6 4992 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 transversion A C A>C 0.839 -1.570 187 PASS . . . . . . . . . . . . . . . . 0.12844037 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.5897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d15285\x3bdist\x3d4515 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +rs371963823 8 609695 C G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609695 609695 Chr8(GRCh37):g.609695C>G *4908 *4908 NM_207332.2:c.*4908G>C p.? p.? 6 4982 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs371963823 no no 0 0.000000 0 transversion G C G>C 0.783 -3.669 146 PASS . . . . . . . . . . . . . . . . 0.11167513 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . . . . . . . . . -1.2220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d15295\x3bdist\x3d4505 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 rs371963823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . rs371963823 rs371963823 1 1538 10 1/0 0,199,255 +rs200051773 8 609729 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609729 609729 Chr8(GRCh37):g.609729G>A *4874 *4874 NM_207332.2:c.*4874C>T p.? p.? 6 4948 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs200051773 yes no Frequency 1 0.000000 0 transition C T C>T 0.087 0.044 186 PASS . . . . . . . . . . . . . . . . 0.1634981 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 263.0 . . . . . . . . . . -0.3907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.22 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d15329\x3bdist\x3d4471 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200051773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs200051773 rs200051773 1 1538 10 1/0 0,190,255 +rs201193441 8 609731 T G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609731 609731 Chr8(GRCh37):g.609731T>G *4872 *4872 NM_207332.2:c.*4872A>C p.? p.? 6 4946 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs201193441 yes no Frequency 1 0.000000 0 transversion A C A>C 0.094 -0.037 197 PASS . . . . . . . . . . . . . . . . 0.15141957 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 317.0 . . . . . . . . . . -0.3818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.25 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d15331\x3bdist\x3d4469 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 rs201193441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs201193441 rs201193441 1 1538 10 1/0 0,181,255 +rs113756892 8 609869 T G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609869 609869 Chr8(GRCh37):g.609869T>G *4734 *4734 NM_207332.2:c.*4734A>C p.? p.? 6 4808 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs113756892 no no 0 0.000000 0 0.000072 0.000129 0.000000 0.000000 0.000000 0.000000 0.000074 0.000000 0.000000 0.000129 2 1 0 0 0 0 1 0 0 27812 7774 760 280 1414 0 13496 3208 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transversion A C A>C 0.807 -0.037 196 PASS . . . . . . . . . . . . . . . . 0.14917128 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 181.0 . . . . . . . . . . -0.0508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.21 0.06 182 ENSG00000104714 . ERICH1 . dist\x3d15469\x3bdist\x3d4331 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 rs113756892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.191e-05 0 0 0 0 7.41e-05 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs113756892 rs113756892 1 1538 10 1/0 0,206,255 +rs539748266 8 1951107 C T - KBTBD11 29104 Kelch repeat and BTB (POZ) domain containing 11 NM_014867.2 1 6717 1872 NP_055682.1 O94819 substitution synonymous exon GRCh37 1951107 1951107 Chr8(GRCh37):g.1951107C>T 1749 1749 NM_014867.2:c.1749C>T p.Gly583= p.Gly583Gly 2 2657 3' 79.8216 9.61542 0.612576 8.76897 79.8216 9.61542 0.612576 8.76897 0 Cryptic Donor Strongly Activated 1951105 53.8177 3.16015 0.021607 65.954 rs539748266 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.007721 0.001253 0.003704 0.003745 0.000000 0.002457 0.013938 0.002981 0.008264 0.013938 314 11 7 4 0 8 262 12 10 40668 8776 1890 1068 1644 3256 18798 4026 1210 0.000344 0.000000 0.000000 0.000000 0.000000 0.000614 0.000319 0.000497 0.003306 7 0 0 0 0 1 3 1 2 300 11 7 4 0 6 256 10 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.575 0.044 G Gly GGC 0.342 G Gly GGT 0.162 583 255 PASS . . . . . . 0.0008 0.0014 . 0.003 . ENSG00000176595:ENST00000320248:exon2:c.C1749T:p.G583G . KBTBD11:NM_014867:exon2:c.C1749T:p.G583G . . 0.72 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G583|KBTBD11|mRNA|CODING|NM_014867|NM_014867.ex.2) . . . . . . . 0.9646 . . . . . . . . 1.891e-03 . . . 0 0.0215 0 . . 0.0789 0 0.0145 0 0.0185 0 0 . 0.0588 0 0.0145 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . . . . ENSG00000176595 KBTBD11 KBTBD11 . . . . . . 503 0.00774132 64976 491 0.00818524 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs539748266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0059 0.0028 0.0026 0 0 0.0118 0 0.0025 0.0013 0.0083 0.0050 0.0066 0 0.0035 0.0145 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 2042028 C A - MYOM2 7614 Myomesin 2 NM_003970.3 1 5011 4398 NP_003961.3 P54296 substitution intron GRCh37 2042028 2042028 Chr8(GRCh37):g.2042028C>A 2125+110 2125+110 NM_003970.3:c.2125+110C>A p.? p.? 17 17 603509 110 5' 74.8217 9.13691 0.852855 2.50772 74.8217 9.13691 0.852855 2.50772 0 rs962241380 yes no Frequency 1 C 0.000000 0 0.000097 0.000000 0.000000 0.000000 0.000000 0.000000 0.000200 0.000000 0.000000 0.000200 3 0 0 0 0 0 3 0 0 30974 8728 838 302 1618 0 15014 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion C A C>A 0.000 -2.458 255 PASS . . . . . . . . . . . . . . . . 0.5090909 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||MYOM2|mRNA|CODING|NM_003970|) . . . . . . . -0.2644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000036448 MYOM2 MYOM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.686e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 3063095 G C - CSMD1 14026 CUB and Sushi multiple domains 1 NM_033225.5 -1 14317 10695 NP_150094.5 substitution missense exon GRCh37 3063095 3063095 Chr8(GRCh37):g.3063095G>C 4915 4915 NM_033225.5:c.4915C>G p.Pro1639Ala p.Pro1639Ala 31 608397 48 3' 88.3705 6.98969 0.975612 2.90422 88.3705 6.98969 0.975612 2.87986 0 CUB 0.000065 0.000229 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000229 2 2 0 0 0 0 0 0 0 30976 8726 838 302 1620 0 15016 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C G C>G 1.000 5.694 P Pro CCA 0.274 A Ala GCA 0.226 1639 12 10 Tetraodon -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 353.86 0.00 Deleterious 0 IV.32 bad 2.32E-4 0.0002166 255 PASS . . . . . . . . . . . . . CSMD1:NM_033225:exon31:c.C4915G:p.P1639A . . 0.45 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.659 . @ . . . . . 1 0.725 . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P1639A|CSMD1|mRNA|CODING|NM_033225|NM_033225.ex.31) . . . . . . . 0.5190 0.465 0.519 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.682 . . exonic exonic exonic . . 0.740 @ . . . . . . ENSG00000183117 CSMD1 CSMD1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.782 0.106 . . 37 . 0.861 . . 0.895 . . . 0.920 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.942 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.614 . . . . . 0.940 . 0.813 . HET 0 . . . . . . . . . . . . . 19.2736 . ENST00000335551 V.28 V.28 . 0.070000 . . . Name\x3dnsv889887 . . 0.927 . . V.28 . . . . . . . . . 0.0002 6.457e-05 0 0 0 0 0 0 . . 0.133 . 2.617 2.617000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.282 0.996 . 0.981 . 0.713 2.617 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs62488376 (chr8:7104746 G/C) 8 7104746 G C No Alamut gene - other known genes: OR7E125P OR7E125P +. (chr8:7115289 A/G) 8 7115289 A G No Alamut gene - other known genes: FAM90A15, FAM90A4P FAM90A15 +. 8 7116537 G A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116537 7116537 Chr8(GRCh37):g.7116537G>A *1604 *1604 NR_027000.1:n.*1604C>T p.? p.? 1 transition C T C>T 0.000 -1.732 194 PASS . . . . . . . . . . . . . . . . 0.14529915 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 117.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.7515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72115\x3bdist\x3d1604 dist\x3d202276\x3bdist\x3d1604 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.75 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 8 7116548 A C - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116548 7116548 Chr8(GRCh37):g.7116548A>C *1593 *1593 NR_027000.1:n.*1593T>G p.? p.? 1 transversion T G T>G 0.000 -1.247 184 PASS . . . . . . . . . . . . . . . . 0.12096774 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 124.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.4926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72126\x3bdist\x3d1593 dist\x3d202287\x3bdist\x3d1593 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . rs2680452 rs2680452 rs2680452 rs2680452 1 1538 10 1/0 0,218,255 +. 8 7116551 T A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116551 7116551 Chr8(GRCh37):g.7116551T>A *1590 *1590 NR_027000.1:n.*1590A>T p.? p.? 1 transversion A T A>T 0.000 0.528 197 PASS . . . . . . . . . . . . . . . . 0.15079366 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 126.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.3186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72129\x3bdist\x3d1590 dist\x3d202290\x3bdist\x3d1590 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs78442057 rs78442057 1 1538 10 1/0 0,220,255 +rs62488776 8 7116556 A C - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116556 7116556 Chr8(GRCh37):g.7116556A>C *1585 *1585 NR_027000.1:n.*1585T>G p.? p.? 1 rs62488776 no no 0 0.000000 0 transversion T G T>G 0.000 0.528 238 PASS . . . . . . . . . . . . . . . . 0.30597016 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 134.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.3385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72134\x3bdist\x3d1585 dist\x3d202295\x3bdist\x3d1585 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.1 rs62488776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs2680453 rs2680453 rs2680453 rs2680453 1 1538 10 1/0 0,232,255 +. 8 7116877 G A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116877 7116877 Chr8(GRCh37):g.7116877G>A *1264 *1264 NR_027000.1:n.*1264C>T p.? p.? 1 transition C T C>T 0.000 -0.360 175 PASS . . . . . . . . . . . . . . . . 0.10273973 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 146.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.3623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72455\x3bdist\x3d1264 dist\x3d202616\x3bdist\x3d1264 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs80165277 rs80165277 1 1538 10 1/0 0,210,255 +. 8 7117048 C A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7117048 7117048 Chr8(GRCh37):g.7117048C>A *1093 *1093 NR_027000.1:n.*1093G>T p.? p.? 1 transversion G T G>T 0.000 -1.489 207 PASS . . . . . . . . . . . . . . . . 0.17821783 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 101.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.4382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72626\x3bdist\x3d1093 dist\x3d202787\x3bdist\x3d1093 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . rs71204200 . . 1 1538 10 1/0 0,233,255 +. 8 7117270 C A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7117270 7117270 Chr8(GRCh37):g.7117270C>A *871 *871 NR_027000.1:n.*871G>T p.? p.? 1 transversion G T G>T 0.000 0.044 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.2838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic downstream downstream . . . @ . . . . . . ENSG00000230045 FLJ00326 LINC00965 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 8 7119328 G A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution exon GRCh37 7119328 7119328 Chr8(GRCh37):g.7119328G>A 1687 1687 NR_027000.1:n.1687C>T 1 transition C T C>T 0.059 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R563W|LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|NR_027000.2.ex.1) . . . . . . . -0.3760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . . FLJ00326 LINC00965 dist\x3d1892\x3bdist\x3d2720 . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7122911 A G - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution upstream GRCh37 7122911 7122911 Chr8(GRCh37):g.7122911A>G -1897 -1897 NR_027000.1:n.-1897T>C p.? p.? 1 transition T C T>C 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.54761904 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . . . . . . . . . -0.5830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000233132 FLJ00326 . . . dist\x3d1897\x3bdist\x3d2852 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr8:7124942 A/G) 8 7124942 A G No Alamut gene - other known genes: FAM90A4P, FAM90A3 FAM90A4P +. (chr8:7124970 C/G) 8 7124970 C G No Alamut gene - other known genes: FAM90A4P, FAM90A3 FAM90A4P +rs371162721 8 7138038 T C - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7138038 7138038 Chr8(GRCh37):g.7138038T>C 253 253 NM_001164456.1:c.253T>C p.Trp85Arg p.Trp85Arg 2 613049 -71 5' 89.5524 9.59704 0.996047 7.84334 89.5524 9.59704 0.996047 8.03286 0 rs371162721 no no 0 0.000000 0 0.004881 0.001517 0.000000 0.000000 0.018258 0.000000 0.001486 0.018837 0.002347 0.018837 63 4 0 0 13 0 10 35 1 12908 2636 426 122 712 0 6728 1858 426 0.000310 0.000000 0.000000 0.000000 0.002809 0.000000 0.000000 0.001076 0.000000 2 0 0 0 1 0 0 1 0 59 4 0 0 11 0 10 33 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.086 W Trp TGG 1.000 R Arg CGG 0.207 85 14 4 Macaque -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 353.86 0.00 Tolerated 0.86 II.60 good 4.388E-1 0.653 255 PASS . . . . . . . . . . . . . . . . 0.34210527 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.6267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d9402\x3bdist\x3d2969 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.91 rs371162721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . . 0 . 0.0015 0.0049 0 0 0.0183 0.0188 0.0015 0.0024 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371162721 rs371162721 1 1538 10 1/0 0,255,255 +rs796912902 8 7138068 C T - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7138068 7138068 Chr8(GRCh37):g.7138068C>T 283 283 NM_001164456.1:c.283C>T p.Pro95Ser p.Pro95Ser 2 613049 -41 5' 89.5524 9.59704 0.996047 7.84334 89.5524 9.59704 0.996047 7.52554 0 Cryptic Acceptor Strongly Activated 7138080 I.21 7,00E-06 61.2829 2.57432 1.2e-05 64.5976 rs796912902 no no 0 0.000000 0 0.003466 0.001426 0.000000 0.000000 0.009950 0.000000 0.000555 0.014811 0.006522 0.014811 48 4 0 0 8 0 4 29 3 13850 2806 476 132 804 2 7212 1958 460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 4 0 0 8 0 4 29 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.086 P Pro CCC 0.328 S Ser TCC 0.220 95 14 9 Cape rock hyrax -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.05 II.65 good 4.175E-2 0.005125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.5041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d9432\x3bdist\x3d2939 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 0 0.0014 0.0035 0 0 0.0100 0.0148 0.0006 0.0066 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7139422 A C - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7139422 7139422 Chr8(GRCh37):g.7139422A>C 515 515 NM_001164456.1:c.515A>C p.Glu172Ala p.Glu172Ala 4 613049 83 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 Cryptic Acceptor Strongly Activated 7139435 3.43036 0.008159 73.1183 III.46 0.032551 75.8112 transversion A C A>C 0.000 0.367 E Glu GAA 0.417 A Ala GCA 0.226 172 14 4 Rat -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 203.79 1.I Tolerated 0.72 II.61 good 1.611E-1 0.3613 235 PASS . . . . . . . . . . . . . . . . 0.2589928 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 139.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.3575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d10786\x3bdist\x3d1585 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs2680453 rs2680453 rs2680453 rs2680453 1 1538 10 1/0 0,226,255 +. 8 7139531 C T - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution synonymous exon GRCh37 7139531 7139531 Chr8(GRCh37):g.7139531C>T 624 624 NM_001164456.1:c.624C>T p.Ala208= p.Ala208Ala 4 613049 192 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 Cryptic Acceptor Strongly Activated 7139544 0.346045 0.000643 66.4302 0.859037 0.003322 69.5458 transition C T C>T 0.008 0.448 A Ala GCC 0.403 A Ala GCT 0.263 208 178 PASS . . . . . . . . . . . . . . . . 0.1091703 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 229.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.3386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d10895\x3bdist\x3d1476 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs71214080 rs71214080 1 1538 10 1/0 0,191,255 +. 8 7139743 G A - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7139743 7139743 Chr8(GRCh37):g.7139743G>A 836 836 NM_001164456.1:c.836G>A p.Gly279Asp p.Gly279Asp 4 613049 404 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transition G A G>A 0.000 -0.117 G Gly GGC 0.342 D Asp GAC 0.539 279 14 9 Elephant -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 244.41 40.46 Tolerated 0.13 II.61 good 8.665E-2 0.09977 177 PASS . . . . . . . . . . . . . . . . 0.10625 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 160.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.3682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d11107\x3bdist\x3d1264 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs80165277 rs80165277 1 1538 10 1/0 0,206,255 +. 8 7139914 C A - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7139914 7139914 Chr8(GRCh37):g.7139914C>A 1007 1007 NM_001164456.1:c.1007C>A p.Ala336Asp p.Ala336Asp 4 613049 575 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 Cryptic Acceptor Strongly Activated 7139914 1.67947 0.008486 69.8175 2.74699 0.050226 71.665 transversion C A C>A 0.000 -1.086 A Ala GCC 0.403 D Asp GAC 0.539 336 14 6 Armadillo -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 256.55 22.66 Tolerated 0.54 II.61 bad 4.863E-3 0.6366 200 PASS . . . . . . . . . . . . . . . . 0.16071428 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.4105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d11278\x3bdist\x3d1093 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,255 +. 8 7140051 C T - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7140051 7140051 Chr8(GRCh37):g.7140051C>T 1144 1144 NM_001164456.1:c.1144C>T p.Pro382Ser p.Pro382Ser 4 613049 712 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transition C T C>T 0.000 1.013 P Pro CCA 0.274 S Ser TCA 0.148 382 14 7 Armadillo -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.78 II.72 good 5.51E-1 0.1381 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.1074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic downstream . . . @ . . . . . . ENSG00000223885 FLJ00326 LINC00965 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75942960 rs75942960 1 1538 10 1/0 0,243,255 +. 8 7140064 A G - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7140064 7140064 Chr8(GRCh37):g.7140064A>G 1157 1157 NM_001164456.1:c.1157A>G p.His386Arg p.His386Arg 4 613049 725 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transition A G A>G 0.000 -1.409 H His CAT 0.413 R Arg CGT 0.082 386 14 3 Tree shrew 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Tolerated 0.71 II.72 good 8.932E-1 0.498 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.4567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic downstream . . . @ . . . . . . ENSG00000223885 FLJ00326 LINC00965 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs76380855 rs76380855 1 1538 10 1/0 0,246,255 +. 8 7140136 C A - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7140136 7140136 Chr8(GRCh37):g.7140136C>A 1229 1229 NM_001164456.1:c.1229C>A p.Ala410Glu p.Ala410Glu 4 613049 797 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transversion C A C>A 0.000 0.044 A Ala GCG 0.107 E Glu GAG 0.583 410 14 2 Chimp -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Deleterious 0.04 II.62 good 2.587E-2 0.02869 188 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.2737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic downstream . . . @ . . . . . . ENSG00000223885 FLJ00326 LINC00965 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7145777 A G - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution intron GRCh37 7145777 7145777 Chr8(GRCh37):g.7145777A>G 323+47 323+47 NM_001164455.1:c.323+47A>G p.? p.? 2 2 613043 47 5' 89.5524 9.59704 0.996047 7.42539 89.5524 9.59704 0.996047 7.49242 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 24.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.4982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d1897\x3bdist\x3d13356 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7147365 G A - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution missense exon GRCh37 7147365 7147365 Chr8(GRCh37):g.7147365G>A 836 836 NM_001164455.1:c.836G>A p.Gly279Asp p.Gly279Asp 4 613043 404 3' 93.5465 13.6284 0.995051 16.271 93.5465 13.6284 0.995051 16.271 0 transition G A G>A 0.000 -0.037 G Gly GGC 0.342 D Asp GAC 0.539 279 14 9 Elephant -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 244.41 40.46 Tolerated 0.13 II.61 good 8.668E-2 0.09986 179 PASS . . . . . . . . . . . . . . . . 0.11029412 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 136.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.3295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d3485\x3bdist\x3d11768 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs80165277 rs80165277 1 1538 10 1/0 0,214,255 +. 8 7147536 C A - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution missense exon GRCh37 7147536 7147536 Chr8(GRCh37):g.7147536C>A 1007 1007 NM_001164455.1:c.1007C>A p.Ala336Asp p.Ala336Asp 4 613043 575 3' 93.5465 13.6284 0.995051 16.271 93.5465 13.6284 0.995051 16.271 0 Cryptic Acceptor Strongly Activated 7147536 1.67947 0.008486 69.8175 2.74699 0.050226 71.665 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 172 28 12 4 4 48 68 4 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 483 Exomes transversion C A C>A 0.000 -0.682 A Ala GCC 0.403 D Asp GAC 0.539 336 14 6 Armadillo -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 256.55 22.66 Tolerated 0.54 II.61 bad 4.835E-3 0.6365 209 PASS . . . . . . . . . . . . . . . . 0.18390805 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.4832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d3656\x3bdist\x3d11597 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 8 7147758 C A - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution missense exon GRCh37 7147758 7147758 Chr8(GRCh37):g.7147758C>A 1229 1229 NM_001164455.1:c.1229C>A p.Ala410Glu p.Ala410Glu 4 613043 797 3' 93.5465 13.6284 0.995051 16.271 93.5465 13.6284 0.995051 16.271 0 transversion C A C>A 0.000 -0.037 A Ala GCG 0.107 E Glu GAG 0.583 410 14 2 Chimp -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Deleterious 0.04 II.62 good 4.715E-2 0.04462 235 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.2880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d3878\x3bdist\x3d11375 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7147798 C T - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution synonymous exon GRCh37 7147798 7147798 Chr8(GRCh37):g.7147798C>T 1269 1269 NM_001164455.1:c.1269C>T p.Phe423= p.Phe423Phe 4 613043 837 3' 93.5465 13.6284 0.995051 16.271 93.5465 13.6284 0.995051 16.271 0 Cryptic Acceptor Weakly Activated 7147808 4.23856 0.425975 80.9684 4.16044 0.618879 84.2511 0.001050 0.000000 0.000000 0.000000 0.000000 0.002358 0.000000 0.000000 0.000000 0.002358 1 0 0 0 0 1 0 0 0 952 38 120 40 24 424 242 26 38 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.024 0.851 F Phe TTC 0.546 F Phe TTT 0.454 423 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.1986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d3918\x3bdist\x3d11335 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0 0 0 0 0 0 0.0024 . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs554835205 8 7155380 C A - FAM90A20P 32268 Family with sequence similarity 90, member A20, pseudogene XR_956516.1 1 2920 0 substitution exon GRCh37 7155380 7155380 Chr8(GRCh37):g.7155380C>A 1355 1355 XR_956516.1:n.1355C>A 4 613054 797 3' 93.5465 13.6284 0.994549 15.2988 93.5465 13.6284 0.994549 15.2988 0 rs554835205 yes no Frequency/1000G 2 0.000000 0 0.000052 0.000000 0.000000 0.000000 0.000000 0.000086 0.000091 0.000000 0.000000 0.000091 7 0 0 0 0 2 5 0 0 135702 4932 24270 7986 10464 23134 55052 6184 3680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 2 5 0 0 0 0 0 0 0 0 0 0 0 PASS 106 Exomes COSM5428128 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 0.000 0.448 199 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . DOWNSTREAM(MODIFIER||||FAM66B|Non-coding_transcript|NON_CODING|NR_027423|) . . . . . . . -0.3467 . . . . . . . . 5.037e-05 . . . 0 0.0001 0 0 0 0.0002 0 0.0001 0 0.0001 0 0 0 0.0002 0 0.0001 . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0024 . . . . . . ENSG00000233295 FAM66B . . . dist\x3d11500\x3bdist\x3d3753 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.31 rs554835205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.158e-05 0 0 0 0 9.082e-05 0 8.645e-05 . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs62488805 8 7182702 C G - FAM66B 28890 Family with sequence similarity 66, member B NR_027423.1 -1 1432 0 substitution exon GRCh37 7182702 7182702 Chr8(GRCh37):g.7182702C>G 627 627 NR_027423.1:n.627G>C 3 19 3' 84.6746 VII.89 0.990338 7.89888 84.6746 VII.89 0.990732 7.62611 0.000132615 rs62488805 no no 0 C 0.000000 0 transversion G C G>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M209I|FAM66B|Non-coding_transcript|NON_CODING|NR_027423|NR_027423.ex.3) . . . . . . . -0.3958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.4 182 ENSG00000215374 FAM66B FAM66B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62488805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62488805 rs62488805 rs62488805 rs62488805 1 1538 10 1/0 0,255,255 +rs543951582 8 7191113 G A - FAM66B 28890 Family with sequence similarity 66, member B NR_027423.1 -1 1432 0 substitution intron GRCh37 7191113 7191113 Chr8(GRCh37):g.7191113G>A 609-8393 609-8393 NR_027423.1:n.609-8393C>T p.? p.? 3 2 -8393 3' 84.6746 VII.89 0.990338 7.89888 84.6746 VII.89 0.990338 7.89888 0 rs543951582 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000165 0.000341 0.000034 0.000000 0.001308 0.000037 0.000093 0.000000 0.000183 0.001308 36 4 1 0 20 1 9 0 1 218162 11732 29370 9070 15292 27270 96438 23526 5464 0.000018 0.000000 0.000000 0.000000 0.000131 0.000000 0.000021 0.000000 0.000000 2 0 0 0 1 0 1 0 0 32 4 1 0 18 1 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.602 255 PASS . . . . . . 0.0004 . 0.002 . . . USP17L1P:uc031taa.1:exon1:c.G1205A:p.R402Q USP17L1:NM_001256873:exon1:c.G1205A:p.R402Q . . 0.5543478 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.097 . @ . . . . . 1 0.055 . . 92.0 . . . . . . . . . . -0.5030 -0.256 -0.503 n . . . . . 1.260e-04 . . . 0.0013 0.0003 0 0.0020 0 0.0003 0 0 0.0009 0.0003 0 0.0027 0 0.0002 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.098 0.0004 . . . . . . ENSG00000230549 USP17L1P USP17L1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.225 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . 0.049 . HET 0.44 rs543951582 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0.0004 0.0002 3.493e-05 0 0.0015 0 0.0001 0.0002 3.667e-05 0.0002 4.069e-05 0 0 0 0 0 0 . . 0.009 . . . . . . . . 1.0E-255 0.000 0.063 . 0.043 0.002 . 0.011 . 0.279 . 0.345 . . . . . 1 1538 10 1/0 0,255,255 +rs543951582 8 7191113 G A - USP17L1 37182 Ubiquitin specific peptidase 17-like family member 1 NM_001256873.1 1 1593 1593 NP_001243802.1 Q7RTZ2 substitution missense exon GRCh37 7191113 7191113 Chr8(GRCh37):g.7191113G>A 1205 1205 NM_001256873.1:c.1205G>A p.Arg402Gln p.Arg402Gln 1 rs543951582 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000165 0.000341 0.000034 0.000000 0.001308 0.000037 0.000093 0.000000 0.000183 0.001308 36 4 1 0 20 1 9 0 1 218162 11732 29370 9070 15292 27270 96438 23526 5464 0.000018 0.000000 0.000000 0.000000 0.000131 0.000000 0.000021 0.000000 0.000000 2 0 0 0 1 0 1 0 0 32 4 1 0 18 1 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.602 R Arg CGA 0.110 Q Gln CAA 0.256 402 12 3 Macaque 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.61 II.83 255 PASS . . . . . . 0.0004 . 0.002 . . . USP17L1P:uc031taa.1:exon1:c.G1205A:p.R402Q USP17L1:NM_001256873:exon1:c.G1205A:p.R402Q . . 0.5543478 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.097 . @ . . . . . 1 0.055 . . 92.0 . . . . . . . . . . -0.5030 -0.256 -0.503 n . . . . . 1.260e-04 . . . 0.0013 0.0003 0 0.0020 0 0.0003 0 0 0.0009 0.0003 0 0.0027 0 0.0002 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.098 0.0004 . . . . . . ENSG00000230549 USP17L1P USP17L1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.225 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . 0.049 . HET 0.44 rs543951582 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0.0004 0.0002 3.493e-05 0 0.0015 0 0.0001 0.0002 3.667e-05 0.0002 4.069e-05 0 0 0 0 0 0 . . 0.009 . . . . . . . . 1.0E-255 0.000 0.063 . 0.043 0.002 . 0.011 . 0.279 . 0.345 . . . . . 1 1538 10 1/0 0,255,255 +rs4840282 8 7319059 G T - SPAG11B 14534 Sperm associated antigen 11B NM_058201.2 -1 718 402 NP_478108.2 substitution intron GRCh37 7319059 7319059 Chr8(GRCh37):g.7319059G>T 214+1170 214+1170 NM_058201.2:c.214+1170C>A p.? p.? 2 2 606560 1170 5' 95.331 X.37 0.996525 11.1354 95.331 X.37 0.996525 11.1354 0 rs4840282 yes no Frequency/1000G 2 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.047 0.205 111 PASS 0.94 0.98 0.99 1. 0.99 . . . . . . . . . . . 1.0 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.1953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.3 182 ENSG00000164871 SPAG11B SPAG11B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs200271729 0.022 0.014 . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs4840282 rs4840282 rs4840282 rs200271729 1 1538 255 1.I 0,0,255 +rs62639778 8 7345253 T A - DEFB106A 18088 Defensin, beta 106A NM_152251.3 -1 303 198 NP_689464.1 Q8N104 substitution upstream GRCh37 7345253 7345253 Chr8(GRCh37):g.7345253T>A -1349 -1349 NM_152251.3:c.-1349A>T p.? p.? 1 -1398 5' 82.5196 8.59441 0.940318 V.93 82.5196 8.59441 0.940318 V.93 0 Cryptic Acceptor Strongly Activated 7345248 8.06825 0.566842 84.9635 9.65205 0.856943 91.1571 rs62639778 yes no Frequency/1000G 2 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM116177|COSM116177|COSM116177 Ovary|Large intestine|Haematopoietic and lymphoid tissue 0.001179|0.000901|0.001133 848|2220|3530 transversion A T A>T 0.000 -0.117 255 PASS 0.05 0.08 0.09 0.06 0.1 . . . . . . ENSG00000186599:ENST00000335510:exon1:c.T11A:p.I4N DEFB105A:uc011kwp.2:exon1:c.T11A:p.I4N . . . 0.4680851 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.092 . . 47.0 . . . . . . . . . . -1.0676 -1.189 -1.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 @ . . . 0.49 0.35 182 ENSG00000186599 DEFB105A . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.247 . . . . T 0.012 0.001 . . 37 . 0.006 . . 0.044 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.055 . . . . . 0.040 . 0.084 . HET 0.34 rs62639778 . . . . . . . 0.07738095238095238 0.046747967479674794 0.08839779005524862 0.06468531468531469 0.10158311345646438 2.368 . ENST00000335510 I.78 -0.235 . 0.220000 Q8NG35 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.079 -0.079000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.156 0.066 . 0.156 . 0.086 -0.079 -0.745 0.1 rs62639778 rs62639778 rs62639778 rs200831596 1 1538 10 1/0 0,255,255 +rs62639778 8 7345253 T A - DEFB106B 28879 Defensin, beta 106B NM_001040704.1 -1 303 198 NP_001035794.1 Q8N104 substitution upstream GRCh37 7345253 7345253 Chr8(GRCh37):g.7345253T>A -1349 -1349 NM_001040704.1:c.-1349A>T p.? p.? 1 -1398 5' 82.5196 8.59441 0.940318 V.93 82.5196 8.59441 0.940318 V.93 0 Cryptic Acceptor Strongly Activated 7345248 8.06825 0.566842 84.9635 9.65205 0.856943 91.1571 rs62639778 yes no Frequency/1000G 2 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM116177|COSM116177|COSM116177 Ovary|Large intestine|Haematopoietic and lymphoid tissue 0.001179|0.000901|0.001133 848|2220|3530 transversion A T A>T 0.000 -0.117 255 PASS 0.05 0.08 0.09 0.06 0.1 . . . . . . ENSG00000186599:ENST00000335510:exon1:c.T11A:p.I4N DEFB105A:uc011kwp.2:exon1:c.T11A:p.I4N . . . 0.4680851 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.092 . . 47.0 . . . . . . . . . . -1.0676 -1.189 -1.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 @ . . . 0.49 0.35 182 ENSG00000186599 DEFB105A . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.247 . . . . T 0.012 0.001 . . 37 . 0.006 . . 0.044 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.055 . . . . . 0.040 . 0.084 . HET 0.34 rs62639778 . . . . . . . 0.07738095238095238 0.046747967479674794 0.08839779005524862 0.06468531468531469 0.10158311345646438 2.368 . ENST00000335510 I.78 -0.235 . 0.220000 Q8NG35 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.079 -0.079000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.156 0.066 . 0.156 . 0.086 -0.079 -0.745 0.1 rs62639778 rs62639778 rs62639778 rs200831596 1 1538 10 1/0 0,255,255 +rs62639779 (chr8:7347154 C/G) 8 7347154 C G Not on a known gene +. (chr8:7408838 A/G) 8 7408838 A G No Alamut gene - other known genes: FAM90A6P FAM90A6P +. (chr8:7427612 A/G) 8 7427612 A G No Alamut gene - other known genes: FAM90A21P, FAM90A22 FAM90A21P +. (chr8:7429541 C/G) 8 7429541 C G No Alamut gene - other known genes: FAM90A21P, FAM90A22 FAM90A21P +. (chr8:7431672 C/A) 8 7431672 C A No Alamut gene - other known genes: FAM90A22 FAM90A22 +. (chr8:7437190 C/G) 8 7437190 C G No Alamut gene - other known genes: FAM90A22, FAM90A23 FAM90A22 +. (chr8:7439321 C/A) 8 7439321 C A No Alamut gene - other known genes: FAM90A23 FAM90A23 +. (chr8:7449673 C/G) 8 7449673 C G No Alamut gene - other known genes: OR7E157P OR7E157P +rs200844447 (chr8:7532719 T/C) 8 7532719 T C Not on a known gene +. (chr8:7563291 G/C) 8 7563291 G C Not on a known gene +. 8 7575076 G A - FAM90A14 32262 Family with sequence similarity 90, member A14 NM_001164452.1 1 1395 1395 NP_001157924.1 P0C7W9 substitution missense exon GRCh37 7575076 7575076 Chr8(GRCh37):g.7575076G>A 496 496 NM_001164452.1:c.496G>A p.Ala166Thr p.Ala166Thr 4 613050 64 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.7247 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 4 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1123 Genomes transition G A G>A 0.004 -1.489 A Ala GCT 0.263 T Thr ACT 0.243 166 14 3 Gorilla 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 103.97 0.00 Tolerated 1 II.61 good 9.878E-1 0.004312 184 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000189393 . . . dist\x3d143156\x3bdist\x3d52030 dist\x3d143156\x3bdist\x3d52030 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs760757539 8 7575095 A C - FAM90A14 32262 Family with sequence similarity 90, member A14 NM_001164452.1 1 1395 1395 NP_001157924.1 P0C7W9 substitution missense exon GRCh37 7575095 7575095 Chr8(GRCh37):g.7575095A>C 515 515 NM_001164452.1:c.515A>C p.Glu172Ala p.Glu172Ala 4 613050 83 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 Cryptic Acceptor Strongly Activated 7575108 3.43036 0.008159 73.1183 III.46 0.032551 75.8112 rs760757539 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 8 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.004 0.125 E Glu GAA 0.417 A Ala GCA 0.226 172 14 4 Rat -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 203.79 1.I Tolerated 0.72 II.61 good 1.614E-1 0.3624 220 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4234 . . . . . . . . 3.759e-03 . . . . . . . . . . . . 0 . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.62 0.31 182 ENSG00000189393 . . . dist\x3d143175\x3bdist\x3d52011 dist\x3d143175\x3bdist\x3d52011 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.17 rs760757539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs2680453 rs2680453 rs2680453 rs2680453 1 1538 10 1/0 0,244,255 +. 8 7575416 G A - FAM90A14 32262 Family with sequence similarity 90, member A14 NM_001164452.1 1 1395 1395 NP_001157924.1 P0C7W9 substitution missense exon GRCh37 7575416 7575416 Chr8(GRCh37):g.7575416G>A 836 836 NM_001164452.1:c.836G>A p.Gly279Asp p.Gly279Asp 4 613050 404 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 15722 Exomes transition G A G>A 0.000 0.690 G Gly GGC 0.342 D Asp GAC 0.539 279 14 9 Elephant -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 244.41 40.46 Tolerated 0.13 II.61 good 8.664E-2 0.09977 192 PASS . . . . . . . . . . . . . . . . 0.14130434 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 92.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000189393 . . . dist\x3d143496\x3bdist\x3d51690 dist\x3d143496\x3bdist\x3d51690 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs80165277 rs80165277 1 1538 10 1/0 0,233,255 +. 8 7575809 C A - FAM90A14 32262 Family with sequence similarity 90, member A14 NM_001164452.1 1 1395 1395 NP_001157924.1 P0C7W9 substitution missense exon GRCh37 7575809 7575809 Chr8(GRCh37):g.7575809C>A 1229 1229 NM_001164452.1:c.1229C>A p.Ala410Glu p.Ala410Glu 4 613050 797 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transversion C A C>A 0.000 -0.279 A Ala GCG 0.107 E Glu GAG 0.583 410 14 2 Chimp -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Deleterious 0.04 II.62 good 2.635E-2 0.02903 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 37.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000189393 . . . dist\x3d143889\x3bdist\x3d51297 dist\x3d143889\x3bdist\x3d51297 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7582763 G A - FAM90A18 32266 Family with sequence similarity 90, member A18 NM_001164451.1 1 1395 1395 NP_001157923.1 A6NE21 substitution missense exon GRCh37 7582763 7582763 Chr8(GRCh37):g.7582763G>A 535 535 NM_001164451.1:c.535G>A p.Val179Ile p.Val179Ile 4 613052 103 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 transition G A G>A 0.000 -1.086 V Val GTC 0.240 I Ile ATC 0.481 179 14 4 Macaque 3 3 4 0 0 5.IX 5.II 84 111 29 C0 272.33 0.00 Tolerated 0.27 II.62 good 7.706E-1 0.5782 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000231656 . . . dist\x3d150843\x3bdist\x3d44343 dist\x3d150843\x3bdist\x3d44343 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7582763 G A - FAM90A19 32267 Family with sequence similarity 90, member A19 NM_001164449.1 1 1395 1395 NP_001157921.1 A6NE21 substitution missense exon GRCh37 7582763 7582763 Chr8(GRCh37):g.7582763G>A 535 535 NM_001164449.1:c.535G>A p.Val179Ile p.Val179Ile 4 613053 103 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 transition G A G>A 0.000 -1.086 V Val GTC 0.240 I Ile ATC 0.481 179 14 4 Macaque 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.52 II.71 good 8.731E-1 0.6763 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000231656 . . . dist\x3d150843\x3bdist\x3d44343 dist\x3d150843\x3bdist\x3d44343 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7583029 G A - FAM90A18 32266 Family with sequence similarity 90, member A18 NM_001164451.1 1 1395 1395 NP_001157923.1 A6NE21 substitution synonymous exon GRCh37 7583029 7583029 Chr8(GRCh37):g.7583029G>A 801 801 NM_001164451.1:c.801G>A p.Ser267= p.Ser267Ser 4 613052 369 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 Cryptic Acceptor Weakly Activated 7583046 2.05351 0.041136 71.2642 2.98272 0.043604 71.2642 transition G A G>A 0.000 -0.844 S Ser TCG 0.056 S Ser TCA 0.148 267 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 6.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000231656 . . . dist\x3d151109\x3bdist\x3d44077 dist\x3d151109\x3bdist\x3d44077 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 8 7583029 G A - FAM90A19 32267 Family with sequence similarity 90, member A19 NM_001164449.1 1 1395 1395 NP_001157921.1 A6NE21 substitution synonymous exon GRCh37 7583029 7583029 Chr8(GRCh37):g.7583029G>A 801 801 NM_001164449.1:c.801G>A p.Ser267= p.Ser267Ser 4 613053 369 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 Cryptic Acceptor Weakly Activated 7583046 2.05351 0.041136 71.2642 2.98272 0.043604 71.2642 transition G A G>A 0.000 -0.844 S Ser TCG 0.056 S Ser TCA 0.148 267 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 6.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000231656 . . . dist\x3d151109\x3bdist\x3d44077 dist\x3d151109\x3bdist\x3d44077 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. (chr8:7590883 C/A) 8 7590883 C A No Alamut gene - other known genes: FAM90A16 FAM90A16 +. (chr8:7590893 A/T) 8 7590893 A T No Alamut gene - other known genes: FAM90A16 FAM90A16 +. (chr8:7590912 C/T) 8 7590912 C T No Alamut gene - other known genes: FAM90A16 FAM90A16 +. (chr8:7590956 C/A) 8 7590956 C A No Alamut gene - other known genes: FAM90A16 FAM90A16 +rs369674414 8 7596685 C T - FAM90A8 32256 Family with sequence similarity 90, member A8 NM_001164450.1 1 1395 1395 NP_001157922.1 A6NJQ4 substitution missense exon GRCh37 7596685 7596685 Chr8(GRCh37):g.7596685C>T 283 283 NM_001164450.1:c.283C>T p.Pro95Ser p.Pro95Ser 2 613045 -41 5' 89.5524 9.59704 0.996047 7.83504 89.5524 9.59704 0.996047 7.51724 0 Cryptic Acceptor Strongly Activated 7596697 I.21 7,00E-06 61.2829 2.57432 1.2e-05 64.5976 rs369674414 no no 0 0.000000 0 0.004115 0.000000 0.000000 0.000000 0.000000 0.142857 0.000000 0.000000 0.000000 0.142857 2 0 0 0 0 2 0 0 0 486 326 68 8 4 14 46 10 10 0.500000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 64 Exomes transition C T C>T 0.000 -1.086 P Pro CCC 0.328 S Ser TCC 0.220 95 14 10 Cape rock hyrax -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Deleterious 0.05 II.58 good 2.641E-2 0.00742 255 PASS . . . . . . . . . . . . . . . . 0.55 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 20.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224710 . . . dist\x3d164765\x3bdist\x3d30421 dist\x3d164765\x3bdist\x3d30421 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs369674414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0041 0 0 0 0 0 0 0.1429 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369674414 rs369674414 1 1538 10 1/0 0,255,255 +. 8 7600823 T C - FAM90A8 32256 Family with sequence similarity 90, member A8 NM_001164450.1 1 1395 1395 NP_001157922.1 A6NJQ4 substitution downstream GRCh37 7600823 7600823 Chr8(GRCh37):g.7600823T>C *1905 *1905 NM_001164450.1:c.*1905T>C p.? p.? 4 613045 2868 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 transition T C T>C 0.004 -1.328 205 PASS . . . . . . . . . . . . . . . . 0.175 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d1905\x3bdist\x3d2733 dist\x3d168903\x3bdist\x3d26283 dist\x3d168903\x3bdist\x3d26283 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr8:7600945 T/C) 8 7600945 T C No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606178 C/A) 8 7606178 C A No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606188 A/T) 8 7606188 A T No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606207 C/T) 8 7606207 C T No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606251 C/A) 8 7606251 C A No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606324 A/G) 8 7606324 A G No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7608471 T/C) 8 7608471 T C No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7608593 T/C) 8 7608593 T C No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7613443 C/T) 8 7613443 C T Not on a known gene +. (chr8:7613620 G/A) 8 7613620 G A Not on a known gene +. (chr8:7621002 G/A) 8 7621002 G A Not on a known gene +rs181589427 (chr8:7621268 G/A) 8 7621268 G A Not on a known gene +. (chr8:7621303 G/A) 8 7621303 G A Not on a known gene +. (chr8:7621474 C/A) 8 7621474 C A Not on a known gene +. (chr8:7621484 A/T) 8 7621484 A T Not on a known gene +. (chr8:7621503 C/T) 8 7621503 C T Not on a known gene +. (chr8:7621547 C/A) 8 7621547 C A Not on a known gene +rs370825034 (chr8:7621620 A/G) 8 7621620 A G Not on a known gene +rs796757886 (chr8:7621838 G/C) 8 7621838 G C Not on a known gene +. (chr8:7623768 T/C) 8 7623768 T C Not on a known gene +. 8 7636826 T C - PRR23D1 49420 Proline rich 23 domain containing 1 NM_001282479.1 -1 1588 840 NP_001269408.1 P0DMB1 substitution missense exon GRCh37 7636826 7636826 Chr8(GRCh37):g.7636826T>C 697 697 NM_001282479.1:c.697A>G p.Ser233Gly p.Ser233Gly 4 490 3' 85.9128 VIII.51 0.788531 4.19806 85.9128 VIII.51 0.788531 4.19806 0 Cryptic Acceptor Strongly Activated 7636818 0.076051 IV.44 0.128519 73.9934 transition A G A>G 0.000 -0.117 S Ser AGT 0.149 G Gly GGT 0.162 233 12 4 Cape rock hyrax 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 87.36 32.04 Tolerated 0.35 3.IX 215 PASS . . . . . . . . . . . ENSG00000255378:ENST00000528972:exon4:c.A697G:p.S233G . . . . 0.19935691 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.118 . . 311.0 . . . . . . . . . . -0.7316 -0.974 -0.732 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV . . . exonic intergenic exonic . . 0.116 @ . . . 0.46 0.36 182 ENSG00000255378 . . . dist\x3d7991\x3bdist\x3d32416 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.917 0.329 . . 37 . 0.346 . . 0.406 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.185 . . . . . 0.082 . 0.021 . HET . . . . . . . . . . . . . . III.76 . ENST00000528972 1.IX -0.436 . 0.110000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.117 -0.117000 . . 0.110000 . . 1.0E-215 0.001 0.137 . 0.143 0.038 . 0.236 . 0.272 -0.117 0.158 . rs62639824 rs62639824 rs62639824 rs62639824 1 1538 10 1/0 0,186,255 +. 8 7636826 T C - PRR23D2 49396 Proline rich 23 domain containing 2 NM_001282478.1 -1 1587 840 NP_001269407.1 E9PI22 substitution missense exon GRCh37 7636826 7636826 Chr8(GRCh37):g.7636826T>C 697 697 NM_001282478.1:c.697A>G p.Ser233Gly p.Ser233Gly 4 490 3' 85.9128 VIII.51 0.788531 4.19806 85.9128 VIII.51 0.788531 4.19806 0 Cryptic Acceptor Strongly Activated 7636818 0.076051 IV.44 0.128519 73.9934 transition A G A>G 0.000 -0.117 S Ser AGT 0.149 G Gly GGT 0.162 233 12 4 Cape rock hyrax 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 87.36 32.04 Tolerated 0.35 3.IX 215 PASS . . . . . . . . . . . ENSG00000255378:ENST00000528972:exon4:c.A697G:p.S233G . . . . 0.19935691 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.118 . . 311.0 . . . . . . . . . . -0.7316 -0.974 -0.732 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV . . . exonic intergenic exonic . . 0.116 @ . . . 0.46 0.36 182 ENSG00000255378 . . . dist\x3d7991\x3bdist\x3d32416 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.917 0.329 . . 37 . 0.346 . . 0.406 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.185 . . . . . 0.082 . 0.021 . HET . . . . . . . . . . . . . . III.76 . ENST00000528972 1.IX -0.436 . 0.110000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.117 -0.117000 . . 0.110000 . . 1.0E-215 0.001 0.137 . 0.143 0.038 . 0.236 . 0.272 -0.117 0.158 . rs62639824 rs62639824 rs62639824 rs62639824 1 1538 10 1/0 0,186,255 +rs776701113 8 7707535 C A - SPAG11A 33342 Sperm associated antigen 11A NM_001081552.2 1 756 327 NP_001075021.2 substitution intron GRCh37 7707535 7707535 Chr8(GRCh37):g.7707535C>A 214+1170 214+1170 NM_001081552.2:c.214+1170C>A p.? p.? 2 2 1170 5' 95.331 X.37 0.996525 11.1354 95.331 X.37 0.996525 11.1354 0 rs776701113 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.287 0.448 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . 0.2802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.25 182 ENSG00000178287 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs776701113 . . . . . . . . . . . . . . . . . . . . 0.0001 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs4840282 rs4840282 rs4840282 rs4840282 1 1538 255 1.I 0,0,255 +. 8 7716887 A G - SPAG11A 33342 Sperm associated antigen 11A NM_001081552.2 1 756 327 NP_001075021.2 substitution intron GRCh37 7716887 7716887 Chr8(GRCh37):g.7716887A>G 215-1281 215-1281 NM_001081552.2:c.215-1281A>G p.? p.? 3 2 -1281 3' 81.6381 X.45 0.939234 7.16437 81.6381 X.45 0.939234 7.16437 0 New Donor Site 7716886 4.30072 0.680014 81.3359 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8076 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.5531915 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||SPAG11A|mRNA|CODING|NM_001081552|) . . . . . . . -0.5293 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.25 0.29 182 ENSG00000178287 SPAG11A SPAG11A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2853656 rs2853656 rs2853656 rs2853656 1 1538 10 1/0 0,255,255 +. 8 7825599 C T - FAM66E 18735 Family with sequence similarity 66, member E NR_027424.1 1 1434 0 substitution intron GRCh37 7825599 7825599 Chr8(GRCh37):g.7825599C>T 610+6781 610+6781 NR_027424.1:n.610+6781C>T p.? p.? 2 2 6781 5' 89.8591 9.60237 0.947044 7.43288 89.8591 9.60237 0.947044 7.43288 0 Cryptic Acceptor Strongly Activated 7825611 1.77294 0.000993 66.7518 II.11 0.001546 70.0664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3014 2816 24 0 8 0 110 42 14 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 30 Genomes transition C T C>T 0.992 2.385 255 PASS . . . . . . . . . . . . . . . . 0.59090906 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.57 0.25 182 ENSG00000255211 FAM66E FAM66E . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4841747 rs4841747 rs4841747 rs4841747 1 1538 10 1/0 0,255,255 +. 8 7830291 T A - FAM66E 18735 Family with sequence similarity 66, member E NR_027424.1 1 1434 0 substitution intron GRCh37 7830291 7830291 Chr8(GRCh37):g.7830291T>A 610+11473 610+11473 NR_027424.1:n.610+11473T>A p.? p.? 2 2 11473 5' 89.8591 9.60237 0.947044 7.43288 89.8591 9.60237 0.947044 7.43288 0 0.000401 0.000481 0.000000 0.000000 0.000000 0.001724 0.000000 0.000000 0.000000 0.001724 6 4 0 0 0 2 0 0 0 14956 8324 1802 192 1186 1160 1928 86 278 0.000134 0.000240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 4 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 1.000 1.820 225 PASS . . . . . . . . . . . . USP17L8:uc031tae.1:exon1:c.A485T:p.H162L USP17L8:NM_001256872:exon1:c.A485T:p.H162L . . 0.23809524 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.077 . . 21.0 . . . . . . . . . . 0.2420 -0.124 0.242 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.158 @ . . . . . . ENSG00000237038 USP17L8 USP17L8 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.896 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.151 . 0.511 . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.297 . . . 0.0005 0.0004 0 0 0 0 0 0 0.0017 0.0005 0.0005 0 0 0 0 0 0 . . 0.013 . . . . . . . . 1.0E-225 0.991 0.370 . 0.164 0.963 . 0.514 . 0.270 . 0.609 . . . . . 1 1538 10 1/0 0,255,255 +. 8 7830291 T A - USP17L8 37181 Ubiquitin specific peptidase 17-like family member 8 NM_001256872.1 -1 1593 1593 NP_001243801.1 P0C7I0 substitution missense exon GRCh37 7830291 7830291 Chr8(GRCh37):g.7830291T>A 485 485 NM_001256872.1:c.485A>T p.His162Leu p.His162Leu 1 0.000401 0.000481 0.000000 0.000000 0.000000 0.001724 0.000000 0.000000 0.000000 0.001724 6 4 0 0 0 2 0 0 0 14956 8324 1802 192 1186 1160 1928 86 278 0.000134 0.000240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 4 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 1.000 1.820 H His CAT 0.413 L Leu CTT 0.129 162 -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 225 PASS . . . . . . . . . . . . USP17L8:uc031tae.1:exon1:c.A485T:p.H162L USP17L8:NM_001256872:exon1:c.A485T:p.H162L . . 0.23809524 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.077 . . 21.0 . . . . . . . . . . 0.2420 -0.124 0.242 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.158 @ . . . . . . ENSG00000237038 USP17L8 USP17L8 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.896 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.151 . 0.511 . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.297 . . . 0.0005 0.0004 0 0 0 0 0 0 0.0017 0.0005 0.0005 0 0 0 0 0 0 . . 0.013 . . . . . . . . 1.0E-225 0.991 0.370 . 0.164 0.963 . 0.514 . 0.270 . 0.609 . . . . . 1 1538 10 1/0 0,255,255 +. 8 7834303 C T - FAM66E 18735 Family with sequence similarity 66, member E NR_027424.1 1 1434 0 substitution intron GRCh37 7834303 7834303 Chr8(GRCh37):g.7834303C>T 611-8391 611-8391 NR_027424.1:n.611-8391C>T p.? p.? 3 2 -8391 3' 84.6746 VII.89 0.990338 7.89888 84.6746 VII.89 0.990338 7.89888 0 transition C T C>T 0.000 -1.409 255 PASS . . . . . . . . . . . . USP17L3:uc031taf.1:exon1:c.G1205A:p.R402Q USP17L3:NM_001256871:exon1:c.G1205A:p.R402Q . . 0.3529412 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.031 . . 17.0 . . . . . . . . . . -0.5017 -0.251 -0.502 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.084 @ . . . . . . ENSG00000225327 USP17L3 USP17L3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.225 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.048 . 0.043 . HET 0.45 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . . . . . . 1.0E-255 0.038 0.207 . 0.108 0.054 . 0.279 . 0.268 . 0.057 . . . . . 1 1538 10 1/0 0,255,255 +. 8 7834303 C T - USP17L3 37175 Ubiquitin specific peptidase 17-like family member 3 NM_001256871.1 -1 1593 1593 NP_001243800.1 A6NCW0 substitution missense exon GRCh37 7834303 7834303 Chr8(GRCh37):g.7834303C>T 1205 1205 NM_001256871.1:c.1205G>A p.Arg402Gln p.Arg402Gln 1 transition G A G>A 0.000 -1.409 R Arg CGA 0.110 Q Gln CAA 0.256 402 1 1 1 0.65 0.89 10.V 10.V 124 85 43 255 PASS . . . . . . . . . . . . USP17L3:uc031taf.1:exon1:c.G1205A:p.R402Q USP17L3:NM_001256871:exon1:c.G1205A:p.R402Q . . 0.3529412 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.031 . . 17.0 . . . . . . . . . . -0.5017 -0.251 -0.502 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.084 @ . . . . . . ENSG00000225327 USP17L3 USP17L3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.225 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.048 . 0.043 . HET 0.45 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . . . . . . 1.0E-255 0.038 0.207 . 0.108 0.054 . 0.279 . 0.268 . 0.057 . . . . . 1 1538 10 1/0 0,255,255 +rs199904548 8 7834512 G A - FAM66E 18735 Family with sequence similarity 66, member E NR_027424.1 1 1434 0 substitution intron GRCh37 7834512 7834512 Chr8(GRCh37):g.7834512G>A 611-8182 611-8182 NR_027424.1:n.611-8182G>A p.? p.? 3 2 -8182 3' 84.6746 VII.89 0.990338 7.89888 84.6746 VII.89 0.990338 7.89888 0 rs199904548 yes no Frequency 1 G 0.000000 0 0.000358 0.000000 0.000000 0.000000 0.000000 0.000000 0.002048 0.000000 0.000000 0.002048 6 0 0 0 0 0 6 0 0 16754 8972 1322 360 788 1080 2930 986 316 0.000358 0.000000 0.000000 0.000000 0.000000 0.000000 0.002048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 0.044 250 PASS . . . . . . . . . . . . USP17L3:uc031taf.1:exon1:c.C996T:p.D332D USP17L3:NM_001256871:exon1:c.C996T:p.D332D . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1527 . . . . . . . . 2.946e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.54 0.23 182 ENSG00000225327 USP17L3 USP17L3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199904548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0 0.0027 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs13274255 rs13274255 1 1538 10 1/0 0,255,255 +rs199904548 8 7834512 G A - USP17L3 37175 Ubiquitin specific peptidase 17-like family member 3 NM_001256871.1 -1 1593 1593 NP_001243800.1 A6NCW0 substitution synonymous exon GRCh37 7834512 7834512 Chr8(GRCh37):g.7834512G>A 996 996 NM_001256871.1:c.996C>T p.Asp332= p.Asp332Asp 1 rs199904548 yes no Frequency 1 G 0.000000 0 0.000358 0.000000 0.000000 0.000000 0.000000 0.000000 0.002048 0.000000 0.000000 0.002048 6 0 0 0 0 0 6 0 0 16754 8972 1322 360 788 1080 2930 986 316 0.000358 0.000000 0.000000 0.000000 0.000000 0.000000 0.002048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 1.000 0.044 D Asp GAC 0.539 D Asp GAT 0.461 332 250 PASS . . . . . . . . . . . . USP17L3:uc031taf.1:exon1:c.C996T:p.D332D USP17L3:NM_001256871:exon1:c.C996T:p.D332D . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1527 . . . . . . . . 2.946e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.54 0.23 182 ENSG00000225327 USP17L3 USP17L3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199904548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0 0.0027 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs13274255 rs13274255 1 1538 10 1/0 0,255,255 +. (chr8:7870423 C/T) 8 7870423 C T No Alamut gene - other known genes: FAM90A11 FAM90A11 +. (chr8:7870560 A/G) 8 7870560 A G No Alamut gene - other known genes: FAM90A11 FAM90A11 +. (chr8:7872011 T/C) 8 7872011 T C No Alamut gene - other known genes: FAM90A11 FAM90A11 +. 8 7875483 A G - FAM90A9P 32257 Family with sequence similarity 90, member A9, pseudogene XR_956606.1 -1 2098 0 substitution downstream GRCh37 7875483 7875483 Chr8(GRCh37):g.7875483A>G *1218 *1218 XR_956606.1:n.*1218T>C p.? p.? 4 613046 2990 3' 93.5465 11.812 0.993368 13.6054 93.5465 11.812 0.993368 13.6054 0 Cryptic Donor Strongly Activated 7875488 0.005015 61.1523 3.15785 0.009482 60.849 0.000465 0.000000 0.000000 0.000000 0.002315 0.000000 0.000600 0.000000 0.000000 0.002315 3 0 0 0 1 0 2 0 0 6450 1474 202 70 432 0 3332 742 198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition T C T>C 0.020 0.125 207 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 33.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.5 0.21 182 ENSG00000233115 . . . dist\x3d9206\x3bdist\x3d70980 dist\x3d9206\x3bdist\x3d70980 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0 0.0023 0 0.0006 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs80341426 8 7878417 G T - FAM90A9P 32257 Family with sequence similarity 90, member A9, pseudogene XR_956606.1 -1 2098 0 substitution exon GRCh37 7878417 7878417 Chr8(GRCh37):g.7878417G>T 382 382 XR_956606.1:n.382C>A 4 613046 56 3' 93.5465 11.812 0.993368 13.6054 93.5465 11.812 0.993368 13.5044 0 rs80341426 yes no Frequency 1 0.000000 0 0.004673 0.000350 0.005515 0.008197 0.041841 0.000000 0.002514 0.007519 0.003788 0.041841 87 2 3 1 40 0 21 18 2 18616 5718 544 122 956 0 8354 2394 528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 2 3 1 40 0 21 18 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion C A C>A 0.000 -1.247 222 PASS . . . . . . . . . . . . . . . . 0.21854305 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.38 0.24 182 ENSG00000215354 . . . dist\x3d12140\x3bdist\x3d68046 dist\x3d12140\x3bdist\x3d68046 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.15 rs80341426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0047 0.0055 0.0082 0.0418 0.0075 0.0025 0.0038 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . rs71216141 rs71216141 rs200525855 1 1538 10 1/0 0,220,255 +. (chr8:7883233 G/A) 8 7883233 G A No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +. (chr8:7883251 A/G) 8 7883251 A G No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +. (chr8:7885396 T/C) 8 7885396 T C No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +. (chr8:7885440 A/G) 8 7885440 A G No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +rs201383242 (chr8:7885475 C/T) 8 7885475 C T No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +rs199679475 (chr8:7885507 C/T) 8 7885507 C T No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +rs199541074 (chr8:7885546 G/T) 8 7885546 G T No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +. (chr8:7886901 A/G) 8 7886901 A G No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +rs9657518 8 10467589 T C - RP1L1 15946 Retinitis pigmentosa 1-like 1 NM_178857.5 -1 7978 7203 NP_849188.4 substitution missense exon GRCh37 10467589 10467589 Chr8(GRCh37):g.10467589T>C 4019 4019 NM_178857.5:c.4019A>G p.Glu1340Gly p.Glu1340Gly 4 608581 3268 3' 78.0103 6.24325 0.822213 VI.48 78.0103 6.24325 0.822213 VI.48 0 rs9657518 yes no Frequency/HapMap/1000G 3 T benign 0.000000 0 0.441494 0.379700 0.530700 0.525800 0.343900 0.452400 RCV000368596.1 germline clinical testing Benign 1 Occult macular dystrophy COSM4162581|COSM4162581|COSM4162581|COSM4162581 Upper aerodigestive tract|Thyroid|Skin|Large intestine 0.011254|0.001339|0.000812|0.000443 1244|747|1232|2256 transition A G A>G 0.000 0.367 E Glu GAA 0.417 G Gly GGA 0.246 1340 8 3 Mouse -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 95.14 65.34 Tolerated 0.13 III.54 bad 9.586E-3 0.03267 255 PASS . . . . . 0.38 0.44 0.45 0.53 0.34 0.53 ENSG00000183638:ENST00000382483:exon4:c.A4019G:p.E1340G RP1L1:uc003wtc.3:exon4:c.A4019G:p.E1340G RP1L1:NM_178857:exon4:c.A4019G:p.E1340G . . 0.33766234 . . germline 52 . . 1.2.2016 1 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.169 . Benign Benign RCV000368596.1 Occult_macular_dystrophy MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 1 0.128 . . 154.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1340G|RP1L1|mRNA|CODING|NM_178857|NM_178857.ex.4) . . . . . . . -0.7788 -0.956 -0.779 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.048 . . exonic exonic exonic . . 0.232 0.4415 . . . 0.15 0.3 182 ENSG00000183638 RP1L1 RP1L1 . . . 0.000 0.053 . 19779 0.304405 64976 17937 0.29902 59986 Benign . 0 . . . . . . . . . . . 37 . 0.043 . . 0.346 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.289 . . 0 0 0 0 0 0 . 0.516 . . 0.462 . . . . . . 0 0.190 . . . . . 0.074 . 0.044 . HET 0.36 rs9657518 0.283 0.217 . . . . . . . . . . III.37 0.196306 ENST00000382483 II.88 I.69 . 0.470000 A6NKC6 . . . . . 0.058 . . . . . . . . . . . . . . . . . . . . . . 0.326 . 0.227 0.227000 . . 0.470000 . . 1.0E-255 0.000 0.063 . 0.132 0.100 . 0.191 . 0.052 0.227 -1.249 0.28 rs9657518 rs9657518 rs9657518 rs9657518 1 1538 10 1/0 0,229,255 +rs4240659 8 10467637 T C - RP1L1 15946 Retinitis pigmentosa 1-like 1 NM_178857.5 -1 7978 7203 NP_849188.4 substitution missense exon GRCh37 10467637 10467637 Chr8(GRCh37):g.10467637T>C 3971 3971 NM_178857.5:c.3971A>G p.Glu1324Gly p.Glu1324Gly 4 608581 3220 3' 78.0103 6.24325 0.822213 VI.48 78.0103 6.24325 0.822213 VI.48 0 rs4240659 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 RCV000315863.1 germline clinical testing VUS 1 Occult macular dystrophy COSM4593645|COSM4593645 Upper aerodigestive tract|Haematopoietic and lymphoid tissue 0.008842|0.000275 1244|3634 transition A G A>G 0.008 -0.037 E Glu GAA 0.417 G Gly GGA 0.246 1324 8 1 -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 225 PASS . . . . . . . . . . . ENSG00000183638:ENST00000382483:exon4:c.A3971G:p.E1324G RP1L1:uc003wtc.3:exon4:c.A3971G:p.E1324G RP1L1:NM_178857:exon4:c.A3971G:p.E1324G . . 0.22916667 . . germline 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.071 . Uncertain//\@significance Uncertain_significance RCV000315863.1 Occult_macular_dystrophy MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 1 0.052 . . 144.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1324G|RP1L1|mRNA|CODING|NM_178857|NM_178857.ex.4) . . . . . . . -1.7651 -1.817 -1.765 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.098 . . exonic exonic exonic . . 0.073 @ . . . 0.2 0.22 182 ENSG00000183638 RP1L1 RP1L1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.051 . . 0.393 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.318 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.270 . . . . . 0.280 . 0.009 . HET 0.43 rs4240659 0.087 0.065 . . . . . . . . . . VII.72 0.10566 ENST00000382483 I.91 -1.85 . 0.290000 A6NKC6 . . . . . 0.071 . . . . . . . . . . . . . . . . . . . . . . 0.326 . -0.966 -0.966000 . . 0.290000 . . 1.0E-225 0.000 0.063 . 0.043 0.117 . 0.083 . 0.005 -0.966 0.158 0.087 rs4240659 rs4240659 rs4240659 rs4240659 1 1538 10 1/0 0,222,255 +rs200397913 8 12030334 T C - FAM90A2P 32250 Family with sequence similarity 90, member A2, pseudogene NR_046354.1 -1 790 0 substitution downstream GRCh37 12030334 12030334 Chr8(GRCh37):g.12030334T>C *629 *629 NR_046354.1:n.*629A>G p.? p.? 5 899 3' 93.5465 13.6284 0.993795 16.9708 93.5465 13.6284 0.993795 16.9708 0 rs200397913 yes no Frequency 1 T 0.000000 0 0.001558 0.001667 0.004149 0.000000 0.007782 0.000000 0.001125 0.000000 0.002475 0.007782 23 9 2 0 4 0 7 0 1 14762 5398 482 168 514 0 6222 1574 404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 9 2 0 4 0 7 0 1 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition A G A>G 0.063 -0.037 218 PASS . . . . . . . . . . . . . . . . 0.21212122 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 33.0 . . DOWNSTREAM(MODIFIER||||FAM90A2P|Non-coding_transcript|NON_CODING|NR_046354|) . . . . . . . -0.3943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic downstream . . . @ . . . 0.52 0.36 182 ENSG00000205879 LOC100506990 FAM90A2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200397913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0016 0.0041 0 0.0078 0 0.0011 0.0025 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs200397913 rs200397913 1 1538 10 1/0 0,255,255 +rs776866199 8 12031050 A C - FAM90A2P 32250 Family with sequence similarity 90, member A2, pseudogene NR_046354.1 -1 790 0 substitution exon GRCh37 12031050 12031050 Chr8(GRCh37):g.12031050A>C 703 703 NR_046354.1:n.703T>G 5 183 3' 93.5465 13.6284 0.993795 16.9708 93.5465 13.6284 0.993795 16.9708 0 rs776866199 no no 0 A 0.000000 0 0.001807 0.004573 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004573 3 3 0 0 0 0 0 0 0 1660 656 22 16 8 0 736 178 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 66 Genomes transversion T G T>G 0.000 -0.682 217 PASS . . . . . . . . . . . . FAM90A2P:uc031tah.1:exon5:c.T615G:p.G205G . . . 0.20689656 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Ggc|C235G|FAM90A2P|Non-coding_transcript|NON_CODING|NR_046354|NR_046354.ex.5) . . . . . . . -0.5774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000205879 FAM90A2P FAM90A2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776866199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0018 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs2740679 8 12216850 T A - FAM85A 17606 Family with sequence similarity 85, member A XR_246651.1 1 1187 0 substitution downstream GRCh37 12216850 12216850 Chr8(GRCh37):g.12216850T>A *156732 *156732 XR_246651.1:n.*156732T>A p.? p.? 3 156860 3' 85.2749 8.95161 0.988797 XI.78 85.2749 8.95161 0.988797 XI.78 0 rs2740679 yes no Frequency/1000G 2 0.000000 0 0.074880 0.146000 0.065400 0.009900 0.076500 0.044700 0.000604 0.001940 0.000000 0.000000 0.000000 0.000000 0.000158 0.000000 0.000000 0.001940 16 14 0 0 0 0 2 0 0 26474 7216 782 262 1608 0 12658 3112 836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 14 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 34 Genomes transversion T A T>A 0.748 -0.440 209 PASS . . . . . 0.15 0.075 0.045 0.0099 0.076 0.065 . . . . . 0.18604651 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . UPSTREAM(MODIFIER||||FAM66A|Non-coding_transcript|NON_CODING|NR_026789|) . . . . . . . -0.8085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . 0.49 0.35 182 ENSG00000215339 LOC100506990 . . . dist\x3d41025\x3bdist\x3d2678 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201463868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0006 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs2740679 rs2740679 rs2740679 rs201463868 1 1538 10 1/0 0,255,255 +rs4081030 8 12216925 A G - FAM85A 17606 Family with sequence similarity 85, member A XR_246651.1 1 1187 0 substitution downstream GRCh37 12216925 12216925 Chr8(GRCh37):g.12216925A>G *156807 *156807 XR_246651.1:n.*156807A>G p.? p.? 3 156935 3' 85.2749 8.95161 0.988797 XI.78 85.2749 8.95161 0.988797 XI.78 0 rs4081030 yes no Frequency/1000G 2 0.000000 0 0.000191 0.000000 0.001295 0.000000 0.000000 0.000000 0.000000 0.001289 0.000000 0.001295 5 0 1 0 0 0 0 4 0 26158 7162 772 256 1588 0 12460 3104 816 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition A G A>G 0.992 -0.440 211 PASS 0.03 0.11 0.11 0.15 0.13 . . . . . . . . . . . 0.19354838 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . UPSTREAM(MODIFIER||||FAM66A|Non-coding_transcript|NON_CODING|NR_026789|) . . . . . . . -0.1596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream ncRNA_intronic intergenic . . . @ . . . 0.47 0.28 182 ENSG00000215339 LOC100506990 . . . dist\x3d41100\x3bdist\x3d2603 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4081030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0013 0 0 0.0013 0 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.15 rs4081030 rs4081030 rs4081030 rs4081030 1 1538 10 1/0 0,255,255 +rs793757 (chr8:12338295 G/A) 8 12338295 G A Not on a known gene +rs2905021 (chr8:12465433 C/G) 8 12465433 C G Not on a known gene +rs34871936 8 17731876 A G - FGL1 3695 Fibrinogen-like 1 NM_201553.1 -1 1464 939 NP_963847.1 Q08830 substitution synonymous exon GRCh37 17731876 17731876 Chr8(GRCh37):g.17731876A>G 399 399 NM_201553.1:c.399T>C p.Phe133= p.Phe133Phe 5 605776 -6 5' 79.6854 6.46173 0.657725 0 79.6854 6.46173 0.870834 0 0.108003 Fibrinogen, alpha/beta/gamma chain, C-terminal globular rs34871936 yes no Frequency/1000G 2 A 0.000000 0 0.004992 0.001500 0.006100 0.000000 0.011900 0.007200 0.008972 0.002625 0.003918 0.013066 0.000000 0.002744 0.014013 0.008548 0.011360 0.014013 2469 63 133 131 0 83 1766 220 73 275180 23996 33948 10026 18772 30250 126026 25736 6426 0.000131 0.000000 0.000000 0.000399 0.000000 0.000000 0.000175 0.000311 0.000311 18 0 0 2 0 0 11 4 1 2433 63 133 127 0 83 1744 212 71 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8483 4393 12876 117 13 130 0.0136047 0.00295052 0.00999539 0.0136047 0.00295052 0.00999539 111 COSM3763222 Large intestine 0.000448 2231 transition T C T>C 0.992 0.609 F Phe TTT 0.454 F Phe TTC 0.546 133 255 PASS 0.002 0.01 0.01 . 0.01 0.0015 0.005 0.0072 . 0.012 0.0061 . . . . . 0.46 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.003 0.01 0.014 0.003 0.01 0.014 . 0.9651 . . . . . . . . 9.181e-03 . . . 0.0023 0.0078 0.0039 0 0.0082 0.0134 0.0014 0.0028 0.0021 0.0086 0.0039 0 0.0082 0.0137 0.0029 0.0028 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0050 . . . 0.17 0.13 182 ENSG00000104760 FGL1 FGL1 . . . . . . 748 0.0115119 64976 723 0.0120528 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34871936 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.009995 . . . . . 0.0026 0.0090 0.0039 0.0128 0 0.0087 0.0142 0.0105 0.0027 0.0027 0.0086 0.0036 0.0232 0 0.0074 0.0126 0.0163 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 rs34871936 rs34871936 rs34871936 rs34871936 1 1538 10 1/0 0,255,255 +rs61910741 8 19263328 C G - CSGALNACT1 24290 Chondroitin sulfate N-acetylgalactosaminyltransferase 1 NM_001130518.1 -1 4282 1599 NP_001123990.1 Q8TDX6 substitution missense exon GRCh37 19263328 19263328 Chr8(GRCh37):g.19263328C>G 1562 1562 NM_001130518.1:c.1562G>C p.Arg521Pro p.Arg521Pro 10 616615 253 3' 89.0103 XI.31 0.916856 7.36741 89.0103 XI.31 0.916856 7.36741 0 Cryptic Acceptor Strongly Activated 19263320 III.84 0.001913 72.8532 5.28801 0.017664 76.2085 rs61910741 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.003781 0.001207 0.002295 0.006600 0.000000 0.001007 0.006174 0.001861 0.001856 0.006600 1048 29 79 67 0 31 782 48 12 277176 24032 34420 10152 18870 30780 126662 25794 6466 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1040 29 79 67 0 31 774 48 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8551 4399 12950 49 7 56 0.00569767 0.00158874 0.00430571 0.00569767 0.00158874 0.00430571 109 COSM3779127 Urinary tract 0.001488 672 transversion G C G>C 1.000 3.918 R Arg CGC 0.190 P Pro CCC 0.328 521 12 8 Frog -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 160.22 0.00 Tolerated 0.23 III.39 unknown 0.0 0.0 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0014 0.0014 . 0.006 . . . . . . 0.38848922 . . @ 54 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.820 . . 139.0 . . . 0.0016 0.0043 0.0057 0.0016 0.0043 0.0057 . 0.7764 0.774 0.776 c . . . . . 4.104e-03 . . . 0.0015 0.0032 0.0019 0 0.0005 0.0055 0.0028 0.0009 0.0017 0.0039 0.0019 0 0.0009 0.0066 0.0014 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.270 . . exonic exonic exonic . . 0.952 0.0014 . . . 0.52 0.62 182 ENSG00000147408 CSGALNACT1 CSGALNACT1 . . . 1.000 0.747 . 246 0.00378601 64976 241 0.0040176 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.507 0.028 . . 37 . 0.400 . . 0.266 . . . 0.659 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.366 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.518 . . . . . 0.588 . 0.819 . HET 0.02 rs61910741 0.011 0.007 . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 13.157 0.001605 . V.91 V.91 . 0.090000 Q8TDX6 . . . 0.004306 . 0.663 . . V.91 0.0010 0.0039 0.0023 0.0066 0 0.0018 0.0063 0.0020 0.0010 0.0015 0.0032 0.0024 0.0066 0 0.0020 0.0049 0.0010 . . 0.301 . 2.802 2.802000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.613 . 0.490 2.802 0.871 0.011 rs61910741 rs61910741 rs61910741 rs61910741 1 1538 10 1/0 0,236,255 +rs184414226 8 21965801 C A - NUDT18 26194 Nudix hydrolase 18 NM_024815.3 -1 1519 972 NP_079091.3 Q6ZVK8 substitution synonymous exon NG_032941.1 6130 6130 NG_032941.1:g.6130G>T 219 219 NM_024815.3:c.219G>T p.Leu73= p.Leu73Leu 2 615791 57 3' 88.6065 9.28357 0.98336 6.18881 88.6065 9.28357 0.98336 5.52077 0 NUDIX hydrolase domain NUDIX hydrolase NUDIX hydrolase domain-like rs184414226 yes no Frequency/1000G 2 C 0.000000 0 0.003994 0.001500 0.002000 0.000000 0.005000 0.015900 0.004991 0.001584 0.003436 0.001504 0.000000 0.001713 0.007753 0.005764 0.004464 0.007753 1220 33 105 14 0 46 863 133 26 244432 20836 30556 9308 16662 26856 111314 23076 5824 0.000033 0.000000 0.000000 0.000000 0.000000 0.000074 0.000018 0.000173 0.000000 4 0 0 0 0 1 1 2 0 1212 33 105 14 0 44 861 129 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8356 4253 12609 74 3 77 0.00877817 0.000704887 0.00606968 0.00877817 0.000704887 0.00606968 33 transversion G T G>T 0.654 L Leu CTG 0.404 L Leu CTT 0.129 73 255 PASS 0.0041 0.0037 0.02 . . 0.0015 0.004 0.016 . 0.005 0.002 ENSG00000173566:ENST00000309188:exon4:c.G219T:p.L73L NUDT18:uc003xaq.1:exon3:c.G219T:p.L73L NUDT18:NM_024815:exon4:c.G219T:p.L73L . . 0.36893204 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.0007 0.0061 0.0088 0.0007 0.0061 0.0088 . -0.6664 . . . . . . . . 4.458e-03 . . . 0.0035 0.0077 0.0081 0 0.0179 0.0115 0.0197 0.0027 0.0028 0.0088 0.0083 0 0.0159 0.0128 0.0211 0.0027 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0040 . . . 0.53 0.59 182 ENSG00000173566 NUDT18 NUDT18 . . . . . . 541 0.00832615 64976 521 0.00868536 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs184414226 . . . . . . . 0.003663003663003663 0.0040650406504065045 0.016574585635359115 0.0 0.0 II.66 8.38E-4 ENST00000522379 5.I -6.89 . . . . . . 0.006070 . . . . . 0.0016 0.0049 0.0035 0.0016 0 0.0057 0.0076 0.0041 0.0017 0.0016 0.0055 0.0024 0 0 0.0060 0.0086 0.0061 . . . . -1.380 -1.380000 . . . . . 1.0E-255 . . . . . . . . . -1.380 . 0.02 . . rs184414226 rs184414226 1 1538 10 1/0 0,250,255 +rs7844183 8 21966891 C A - NUDT18 26194 Nudix hydrolase 18 NM_024815.3 -1 1519 972 NP_079091.3 Q6ZVK8 substitution 5'UTR NG_032941.1 5042 5042 NG_032941.1:g.5042G>T -78 -78 NM_024815.3:c.-78G>T p.? p.? 1 615791 -240 5' 89.8591 9.60237 0.911553 15.5659 89.8591 9.60237 0.911553 15.5659 0 rs7844183 yes no Frequency/1000G 2 C 0.000000 0 0.378395 0.403200 0.422300 0.371000 0.390700 0.262200 0.000836 0.001405 0.000969 0.005208 0.000000 0.011737 0.000381 0.000286 0.000000 0.011737 27 12 1 2 0 5 6 1 0 32284 8540 1032 384 1620 426 15746 3502 1034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 1 2 0 5 7 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.008 207 PASS . . . . . 0.4 0.38 0.26 0.37 0.39 0.42 UNKNOWN NUDT18:uc003xar.1:exon1:c.G472T:p.A158S . . . 0.18 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . I.88 . . . . . . . . 3.091e-04 . . . 0 0 0 . . 0 0 0 0 0 0 0 . 0 0 0 unknown nonsynonymous_SNV . . . . exonic exonic UTR5 . . . 0.3784 . . . 0.35 0.38 182 ENSG00000173566 NUDT18 NUDT18 . . NM_024815:c.-78G>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7844183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.37 0 0.0075 0.0043 0.0222 0 0.0081 0.0057 0 0.0117 0.0014 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs7844183 rs7844183 rs7844183 rs7844183 1 1538 10 1/0 0,255,255 +rs117302411 8 22389029 G A - PPP3CC 9316 Protein phosphatase 3, catalytic subunit, gamma isozyme NM_001243974.1 1 2348 1566 NP_001230903.1 substitution intron GRCh37 22389029 22389029 Chr8(GRCh37):g.22389029G>A 1168+188 1168+188 NM_001243974.1:c.1168+188G>A p.? p.? 11 11 114107 188 5' 71.0451 8.33086 0.815245 1.08327 71.0451 8.33086 0.815245 1.08327 0 rs117302411 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000800 0.003100 0.000000 0.009900 0.005800 0.007907 0.001832 0.007160 0.000000 0.000000 0.000000 0.012190 0.008014 0.012220 0.012190 245 16 6 0 0 0 183 28 12 30984 8734 838 302 1622 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245 16 6 0 0 0 183 28 12 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.039 1.416 255 PASS 0.002 0.0027 . . 0.01 0.0008 0.0036 0.0058 . 0.0099 0.0031 . . . . . 0.5652174 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . 1.0436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.65 0.39 182 ENSG00000120910 PPP3CC PPP3CC . . . . . . 812 0.0124969 64976 794 0.0132364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117302411 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . III.85 . . . . . . . . . 0.0018 0.0079 0.0072 0 0 0.0080 0.0122 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs117302411 rs117302411 1 1538 10 1/0 0,255,255 +rs369568765 8 22421893 G A - SORBS3 30907 Sorbin and SH3 domain containing 3 NM_005775.4 1 3123 2016 NP_005766.3 O60504 substitution intron GRCh37 22421893 22421893 Chr8(GRCh37):g.22421893G>A 762+11 762+11 NM_005775.4:c.762+11G>A p.? p.? 9 9 610795 11 5' 86.3702 9.25272 0.98752 9.50282 86.3702 9.25272 0.98752 VIII.07 0 rs369568765 yes no Frequency 1 G 0.000000 0 0.000112 0.000000 0.000058 0.000000 0.000000 0.000000 0.000221 0.000039 0.000000 0.000221 31 0 2 0 0 0 28 1 0 277190 24024 34416 10150 18870 30782 126710 25774 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 0 2 0 0 0 28 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 81 transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.46025103 . . @ 110 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 239.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.4145 . . . . . . . . . . . . 0 8.862e-05 0 0 0 0.0002 0 0 0 9.444e-05 0 0 0 0.0002 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.39 182 ENSG00000120896 SORBS3 SORBS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369568765 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0001 2.978e-05 0 0 4.488e-05 0.0002 0 0 0 9.689e-05 0.0012 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs369568765 rs369568765 1 1538 10 1/0 0,219,241 +rs372978402 8 22428467 C T - SORBS3 30907 Sorbin and SH3 domain containing 3 NM_005775.4 1 3123 2016 NP_005766.3 O60504 substitution synonymous exon GRCh37 22428467 22428467 Chr8(GRCh37):g.22428467C>T 1476 1476 NM_005775.4:c.1476C>T p.Tyr492= p.Tyr492Tyr 18 610795 45 3' 89.661 X.26 0.986191 XII.28 89.661 X.26 0.986191 XII.85 0 Src homology-3 domain Variant SH3 rs372978402 yes no Frequency 1 C 0.000000 0 0.000150 0.000000 0.000029 0.000000 0.000848 0.000033 0.000178 0.000000 0.000156 0.000848 41 0 1 0 16 1 22 0 1 273822 23964 34284 10040 18858 30644 123936 25690 6406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 0 1 0 16 1 22 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 87 transition C T C>T 0.976 -0.117 Y Tyr TAC 0.562 Y Tyr TAT 0.438 492 255 PASS . . . . . . . . . . . . . . . . 0.39175257 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 194.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.3510 . . . . . . . . 1.815e-04 . . . 0 0.0001 0 0.0007 0 0.0002 0 6.575e-05 0 0.0002 0 0.0009 0 0.0002 0 6.615e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.27 182 ENSG00000120896 SORBS3 SORBS3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372978402 . . . . . . . . . . . . IX.33 0.0 ENST00000517962 V.39 -0.757 . . . . . . 0.000077 . . . . . 0 0.0002 2.99e-05 0 0.0008 0 0.0002 0.0002 3.263e-05 0 6.481e-05 0 0 0.0012 0 0 0 . . . . -0.062 -0.062000 . . . . . 1.0E-255 . . . . . . . . . -0.062 . 0.0001 . . rs372978402 rs372978402 1 1538 10 1/0 0,226,255 +rs17060939 8 22472051 G A - CCAR2 23360 Cell cycle and apoptosis regulator 2 NM_021174.5 1 3992 2772 NP_066997.3 Q8N163 substitution intron GRCh37 22472051 22472051 Chr8(GRCh37):g.22472051G>A 1041+35 1041+35 NM_021174.5:c.1041+35G>A p.? p.? 10 10 607359 35 5' 94.3644 X.71 0.99854 9.81525 94.3644 X.71 0.99854 IX.76 0 Cryptic Donor Strongly Activated 22472052 6.85734 0.673084 73.6277 9.42864 0.6486 82.5885 rs17060939 yes no Frequency/HapMap/1000G 3 T 0.000000 0 0.005990 0.000000 0.014300 0.000000 0.011900 0.005800 0.008360 0.000796 0.002421 0.019996 0.000213 0.009135 0.005996 0.036613 0.010592 0.036613 2288 19 83 202 4 280 753 879 68 273690 23860 34290 10102 18770 30652 125588 24008 6420 0.000175 0.000000 0.000000 0.000594 0.000000 0.000065 0.000080 0.001250 0.000000 24 0 0 3 0 1 5 15 0 2138 11 78 190 4 262 724 805 64 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.924 255 PASS . . . . . . 0.006 0.0058 . 0.012 0.014 . . . . . 0.63247865 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . -0.2501 . . . . . . . . 8.114e-03 . . . 0.0010 0.0075 0.0028 0 0.0398 0.0073 0.0101 0.0101 0.0009 0.0084 0.0028 0 0.0362 0.0082 0.0103 0.0101 . . . . . . ncRNA_exonic intronic intronic . . . 0.1376 . . . 0.28 0.15 182 ENSG00000253200 KIAA1967 CCAR2 . . . . . . 563 0.00866474 64976 532 0.00886874 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17060939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0083 0.0025 0.0203 0.0002 0.0359 0.0059 0.0090 0.0091 0.0009 0.0087 0.0012 0.0099 0 0.0407 0.0065 0.0193 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs17060939 rs17060939 1 1538 10 1/0 0,255,255 +rs3830254 8 22472256 G T - CCAR2 23360 Cell cycle and apoptosis regulator 2 NM_021174.5 1 3992 2772 NP_066997.3 Q8N163 substitution intron GRCh37 22472256 22472256 Chr8(GRCh37):g.22472256G>T 1042-95 1042-95 NM_021174.5:c.1042-95G>T p.? p.? 11 10 607359 -95 3' 87.7176 X.29 0.973754 8.84635 87.7176 X.29 0.973754 8.84635 0 rs3830254 yes no Frequency/1000G 2 T 0.000000 0 0.002774 0.020059 0.001439 0.000751 0.000376 0.002742 0.001910 0.000985 0.000838 0.020059 261 122 23 3 3 24 74 10 2 94080 6082 15978 3994 7988 8754 38748 10148 2388 0.000021 0.000329 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 259 120 23 3 3 24 74 10 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3668639 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . 0.0940 . . . . . . . . 6.570e-03 . . . 0.0459 0.0081 0.0058 0.0013 0.0055 0.0072 0 0.0023 0.0485 0.0083 0.0062 0 0.0037 0.0089 0 0.0023 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.25 0.17 182 ENSG00000253200 KIAA1967 CCAR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3830254 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0216 0.0025 0.0015 0.0008 0.0004 0.0012 0.0021 0.0010 0.0027 0.0183 0.0045 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs3830254 rs3830254 1 1538 10 1/0 0,227,255 +rs113423385 8 22472281 A T - CCAR2 23360 Cell cycle and apoptosis regulator 2 NM_021174.5 1 3992 2772 NP_066997.3 Q8N163 substitution intron GRCh37 22472281 22472281 Chr8(GRCh37):g.22472281A>T 1042-70 1042-70 NM_021174.5:c.1042-70A>T p.? p.? 11 10 607359 -70 3' 87.7176 X.29 0.973754 8.84635 87.7176 X.29 0.973754 9.09406 0 Cryptic Acceptor Strongly Activated 22472296 3.13467 0.110575 81.0738 7.21795 0.298242 81.0738 rs113423385 yes no Frequency 1 A 0.000000 0 0.000124 0.001158 0.000000 0.000000 0.000088 0.000043 0.000126 0.000053 0.000000 0.001158 22 9 0 0 1 1 10 1 0 177412 7772 23872 8306 11428 23456 79576 19044 3958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 9 0 0 1 1 10 1 0 0 0 0 0 0 0 0 0 0 RF 92 Exomes transversion A T A>T 0.000 -0.037 224 PASS . . . . . . . . . . . . . . . . 0.22346368 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . 0.1269 . . . . . . . . 6.429e-04 . . . 0.0023 0.0007 0 0 0 0.0011 0 9.174e-05 0.0028 0.0007 0 0 0.0004 0.0009 0 9.213e-05 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.15 0.1 182 ENSG00000253200 KIAA1967 CCAR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113423385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0001 0 0 8.75e-05 5.251e-05 0.0001 0 4.263e-05 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs113423385 rs113423385 1 1538 10 1/0 0,212,255 +. 8 22479008 T G - BIN3 1054 Bridging integrator 3 NM_018688.4 -1 1863 762 NP_061158.1 Q9NQY0 substitution missense exon GRCh37 22479008 22479008 Chr8(GRCh37):g.22479008T>G 689 689 NM_018688.4:c.689A>C p.Asp230Ala p.Asp230Ala 9 606396 74 3' 81.8464 10.904 0.939631 9.33619 81.8464 10.904 0.939631 9.512 0 BAR domain transversion A C A>C 0.882 3.030 D Asp GAT 0.461 A Ala GCT 0.263 230 11 10 Baker's yeast -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 159.94 27.V Deleterious 0.02 III.40 bad 5.541E-5 0.00059 255 PASS . . . . . . . . . . . . . BIN3:NM_018688:exon9:c.A689C:p.D230A . . 0.43076923 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.566 . @ . . . . . 1 0.379 . . 130.0 . . . . . . . . . . 0.0921 0.084 0.092 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.505 @ . . . . . . ENSG00000147439 BIN3 BIN3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.420 . . . . D 0.676 0.059 . . 37 . 0.539 . . 0.493 . . . 0.640 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.534 . . 0 0 0 0 0 0 . 0.609 . . 0.577 . . . . . . 2 0.172 . . . . . 0.414 . 0.673 . HET 0.16 . . . . . . . . . . . . . 10.0917 . . V.48 IV.31 . 0.250000 . . . . . . 0.721 . . IV.31 . . . . . . . . . . . . . . . . . . . 0.522 . 0.898 0.898000 . . 0.250000 . . 1.0E-255 1.000 0.715 . 0.273 0.835 . 0.841 . 0.807 0.898 0.991 . . . . . 1 1538 10 1/0 0,242,255 +. 8 22479008 T G - CCAR2 23360 Cell cycle and apoptosis regulator 2 NM_021174.5 1 3992 2772 NP_066997.3 Q8N163 substitution downstream GRCh37 22479008 22479008 Chr8(GRCh37):g.22479008T>G *1813 *1813 NM_021174.5:c.*1813T>G p.? p.? 21 607359 1858 3' 86.923 8.26002 0.805695 IV.42 86.923 8.26002 0.805695 IV.42 0 New Acceptor Site 22479009 5.94947 0.098167 74.2781 transversion T G T>G 0.882 3.030 255 PASS . . . . . . . . . . . . . BIN3:NM_018688:exon9:c.A689C:p.D230A . . 0.43076923 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.566 . @ . . . . . 1 0.379 . . 130.0 . . . . . . . . . . 0.0921 0.084 0.092 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.505 @ . . . . . . ENSG00000147439 BIN3 BIN3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.420 . . . . D 0.676 0.059 . . 37 . 0.539 . . 0.493 . . . 0.640 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.534 . . 0 0 0 0 0 0 . 0.609 . . 0.577 . . . . . . 2 0.172 . . . . . 0.414 . 0.673 . HET 0.16 . . . . . . . . . . . . . 10.0917 . . V.48 IV.31 . 0.250000 . . . . . . 0.721 . . IV.31 . . . . . . . . . . . . . . . . . . . 0.522 . 0.898 0.898000 . . 0.250000 . . 1.0E-255 1.000 0.715 . 0.273 0.835 . 0.841 . 0.807 0.898 0.991 . . . . . 1 1538 10 1/0 0,242,255 +rs144452398 8 23225606 C T - LOXL2 6666 Lysyl oxidase-like 2 NM_002318.2 -1 3810 2325 NP_002309.1 Q9Y4K0 substitution missense exon GRCh37 23225606 23225606 Chr8(GRCh37):g.23225606C>T 259 259 NM_002318.2:c.259G>A p.Asp87Asn p.Asp87Asn 2 606663 -97 5' 81.7632 8.138 0.872981 8.43406 81.7632 8.138 0.872981 8.43406 0 Speract/scavenger receptor Speract/scavenger receptor-related rs144452398 yes no Frequency 1 C 0.000000 0 0.000141 0.000042 0.000029 0.001873 0.000000 0.000000 0.000127 0.000000 0.000310 0.001873 39 1 1 19 0 0 16 0 2 276762 24002 34418 10144 18858 30776 126338 25766 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 1 1 19 0 0 16 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 81 COSM5874404 Large intestine 0.007576 132 transition G A G>A 1.000 5.936 D Asp GAC 0.539 N Asn AAC 0.536 87 15 13 Frog 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 226.57 0.00 Tolerated 0.06 III.82 good 5.724E-1 0.0002869 255 PASS . . . . . . . . . . . . LOXL2:uc003xdh.1:exon2:c.G259A:p.D87N LOXL2:NM_002318:exon2:c.G259A:p.D87N . . 0.43382353 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.828 . @ . . . . . 1 0.969 . . 136.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.3778 0.463 0.378 c . . . . . 1.579e-04 . . . 0 0.0002 0 0 0 0.0004 0.0028 0 0 0.0001 0 0 0 0.0003 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.600 . . exonic exonic exonic . . 0.864 @ . . . 0.18 0.34 182 ENSG00000134013 LOXL2 LOXL2 . . . 1.000 0.747 . 6 9.23418e-05 64976 6 0.000100023 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.514 0.029 . . 37 . 0.518 . . 0.447 . . . 0.162 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.747 . . 0 0 0 0 0 0 . 0.455 . . 0.431 . . . . . . 1 0.371 . . . . . 0.913 . 0.230 . HET 0.1 rs144452398 . . . . . . . . . . . . 18.6257 0.0 . V.64 V.64 . 0.330000 Q9Y4K0 . . . 0.000231 . 0.635 . . V.64 6.546e-05 0.0002 2.978e-05 0.0019 0 0 0.0001 0.0004 0 0 6.46e-05 0 0 0 0 0.0001 0 . . 0.730 . 2.816 2.816000 . . 0.330000 . . 1.0E-255 1.000 0.715 . 0.523 0.996 . 0.854 . 0.490 2.816 0.824 0.0003 . . rs144452398 rs144452398 1 1538 10 1/0 0,242,255 +rs3030791 8 25268511 G A - DOCK5 23476 Dedicator of cytokinesis 5 NM_024940.7 1 10217 5613 NP_079216.4 Q9H7D0 substitution intron GRCh37 25268511 25268511 Chr8(GRCh37):g.25268511G>A 5509-199 5509-199 NM_024940.7:c.5509-199G>A p.? p.? 52 51 616904 -199 3' 87.6398 VIII.06 0.916855 12.343 87.6398 VIII.06 0.916855 12.343 0 rs3030791 yes no Frequency/1000G 2 0.000000 0 0.281949 0.237500 0.284300 0.320400 0.312100 0.263700 0.001445 0.000829 0.001466 0.004032 0.001418 0.000000 0.001813 0.000966 0.002538 0.004032 37 6 1 1 2 0 22 3 2 25606 7242 682 248 1410 0 12132 3104 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 6 1 1 2 0 22 3 2 0 0 0 0 0 0 0 0 0 RF 34 Genomes transition G A G>A 0.024 -0.037 255 PASS . . . . . 0.24 0.28 0.26 0.32 0.31 0.28 . . . . . 0.71428573 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . INTRON(MODIFIER||||DOCK5|mRNA|CODING|NM_024940|) . . . . . . . -0.3950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2819 . . . 0.39 0.16 182 ENSG00000147459 . DOCK5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3030791 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0014 0.0015 0.0040 0.0014 0.0010 0.0018 0.0025 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs3030791 rs3030791 1 1538 10 1/0 0,255,255 +rs150201545 8 27378517 C T - EPHX2 3402 Epoxide hydrolase 2, cytoplasmic NM_001979.5 1 2275 1668 NP_001970.2 P34913 substitution intron GRCh37 27378517 27378517 Chr8(GRCh37):g.27378517C>T 972+91 972+91 NM_001979.5:c.972+91C>T p.? p.? 10 10 132811 91 5' 91.4889 X.58 0.997374 2.51901 91.4889 X.58 0.997374 2.51901 0 Cryptic Donor Strongly Activated 27378511 2.12739 0.208314 63.8675 2.98609 0.376201 69.6461 rs150201545 yes no Frequency/1000G 2 C 0.000000 0 0.004593 0.015900 0.000000 0.000000 0.000000 0.002900 0.005198 0.016258 0.002387 0.003311 0.000000 0.000000 0.000933 0.000000 0.002037 0.016258 161 142 2 1 0 0 14 0 2 30972 8734 838 302 1622 0 15000 3494 982 0.006211 0.007042 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 159 140 2 1 0 0 14 0 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 -1.328 255 PASS 0.01 0.0037 0.01 . . 0.016 0.0046 0.0029 . . . . . . . . 0.42857143 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.4540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0046 . . . 0.22 0.16 182 ENSG00000120915 EPHX2 EPHX2 . . . . . . 51 0.000784905 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150201545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0163 0.0052 0.0024 0.0033 0 0 0.0009 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150201545 rs150201545 1 1538 10 1/0 0,255,255 +rs138057183 8 35631918 G T - UNC5D 18634 Unc-5 netrin receptor D NM_080872.3 1 9177 2862 NP_543148.2 Q6UXZ4 substitution synonymous exon GRCh37 35631918 35631918 Chr8(GRCh37):g.35631918G>T 2580 2580 NM_080872.3:c.2580G>T p.Arg860= p.Arg860Arg 16 616466 -78 5' 87.6072 8.55395 0.965964 3.29116 87.6072 8.55395 0.965964 2.99893 0 Death domain Death-like domain rs138057183 yes no Frequency 1 G 0.000000 0 0.000206 0.000000 0.000087 0.000000 0.000000 0.000000 0.000403 0.000000 0.000464 0.000403 57 0 3 0 0 0 51 0 3 276868 24028 34402 10136 18820 30782 126454 25784 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 0 3 0 0 0 51 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 127 COSM3983750 Oesophagus 0.000712 1405 transversion G T G>T 1.000 1.981 R Arg CGG 0.207 R Arg CGT 0.082 860 255 PASS . . . . . . . . . . . . . UNC5D:NM_080872:exon16:c.G2580T:p.R860R . . 0.45833334 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgG/cgT|R860|UNC5D|mRNA|CODING|NM_080872|NM_080872.ex.16) . 0.0002 0.0002 . 0.0002 0.0002 . I.54 . . . . . . . . 1.815e-04 . . . 0 6.621e-05 0 0 0 0.0001 0.0014 0 0 0.0002 0 0 0 0.0004 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.65 0.44 182 ENSG00000156687 UNC5D UNC5D . . . . . . 5 7.69515e-05 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138057183 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831285 0.000154 . . . . 4.XI 0 0.0002 8.938e-05 0 0 0 0.0003 0.0005 0 0 0.0004 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs138057183 rs138057183 1 1538 10 1/0 0,255,255 +rs545067286 8 38614885 G A - TACC1 11522 Transforming acidic coiled-coil containing protein 1 NM_001352778.1 1 8036 2466 NP_001339707.1 substitution intron GRCh37 38614885 38614885 Chr8(GRCh37):g.38614885G>A 22+14916 22+14916 NM_001352778.1:c.22+14916G>A p.? p.? 2 2 605301 14916 5' 87.3006 8.82915 0.987239 3.66986 87.3006 8.82915 0.987239 3.66986 0 rs545067286 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000572 0.000544 0.000177 0.000139 0.000000 0.000000 0.001235 0.000000 0.000251 0.001235 77 6 4 1 0 0 65 0 1 134608 11030 22550 7178 8306 20650 52632 8278 3984 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 6 4 1 0 0 65 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.031 -1.005 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.5 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.268 . @ . . . . . 2 0.395 . . 32.0 . . INTRON(MODIFIER||||TACC1|mRNA|CODING|NM_001146216|) . . . . . . . -1.0275 -1.076 -1.027 c . . . . . 1.286e-04 . . . 0 0.0003 0 0 . 0.0011 0 0 0 0.0003 0 0 . 0.0011 0 0 nonsynonymous_SNV nonsynonymous_SNV . 0.100 . . exonic exonic intronic . . 0.030 0.0002 . . . . . . ENSG00000147526 TACC1 TACC1 . . . 1.000 0.747 . 46 0.000707954 64976 45 0.000750175 59986 . . 0 . . . . . . T 0.382 0.017 . . 37 . 0.314 . . 0.238 . . . . 0.248 . . . . . . . . . . . . . . . 0.098 . . . . . . 0 . . 0.119 . . 0.040 . . . . . . 0 0.912 . . . . . 0.025 . 0.078 . HET 0 rs545067286 . . . . . . . . . . . . I.58 0.0 . IV.49 -4.77 . 0.050000 . . . Name\x3dnsv831296 . . 0.129 . . . 0.0004 0.0005 0.0002 0.0001 0 0 0.0013 0.0003 0 0.0006 0.0007 0 0 0 0 0.0011 0 . . 0.969 . -0.888 -0.888000 . . 0.050000 . . 1.0E-255 0.216 0.243 . 0.213 0.022 . 0.085 . 0.019 -0.888 -0.726 . . . . . 1 1538 10 1/0 0,255,255 +rs773317488 8 39467008 A G - ADAM18 196 ADAM metallopeptidase domain 18 NM_014237.2 1 2399 2220 NP_055052.1 Q9Y3Q7 substitution missense exon GRCh37 39467008 39467008 Chr8(GRCh37):g.39467008A>G 272 272 NM_014237.2:c.272A>G p.His91Arg p.His91Arg 5 5 3' 85.2897 X.78 0.979225 5.57541 85.2897 X.78 0.976016 5.81324 -0.00109236 Cryptic Acceptor Strongly Activated 39467023 0.989035 0.000107 71.9706 1.67638 0.000186 71.9706 Peptidase M12B, propeptide rs773317488 yes no Frequency 1 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 245432 15292 33498 9840 17234 30762 111152 22196 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transition A G A>G 0.142 0.125 H His CAT 0.413 R Arg CGT 0.082 91 12 11 Fruitfly 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 68.35 28.37 Deleterious 0.02 II.94 good 3.493E-2 0.131 248 PASS . . . . . . . . . . . . . . . . 0.3018868 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.354 . @ . . . . . 1 0.203 . . 53.0 . . . . . . . . . . -0.3672 -0.553 -0.367 c . . . . . 7.893e-06 . . . 0 1.116e-05 0 0 0 0 0 6.098e-05 0 9.514e-06 0 0 0 0 0 6.132e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.184 @ . . . . . . ENSG00000168619 ADAM18 ADAM18 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.112 . . . . T 0.069 0.003 . . 37 . 0.217 . . 0.086 . . . 0.843 0.189 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.856 . . 0 0 0 0 0 0 . 0.588 . . 0.619 . . . . . . 0 0.546 . . . . . 0.180 . 0.381 . HET 0.03 rs773317488 . . . . . . . . . . . . V.45 . . IV.89 0.905 . 0.060000 . . . . . . 0.189 . . . 0 4.074e-06 0 0 0 0 0 0 3.251e-05 . . . . . . . . . . 0.133 . 0.058 0.058000 . . 0.060000 . . 1.0E-248 0.188 0.239 . 0.173 0.494 . 0.247 . 0.254 0.058 0.042 . . . . . 1 1538 10 1/0 0,255,255 +rs200019819 8 41547980 G A - ANK1 492 Ankyrin 1 NM_001142446.1 -1 8478 5694 NP_001135918.1 substitution intron GRCh37 41547980 41547980 Chr8(GRCh37):g.41547980G>A 4107+12 4107+12 NM_001142446.1:c.4107+12C>T p.? p.? 33 33 612641 12 5' 66.8309 5.74298 0.21364 4.97805 66.8309 5.74298 0.21364 4.82559 0 rs200019819 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000144 0.000042 0.000000 0.000000 0.000000 0.000227 0.000245 0.000000 0.000155 0.000245 40 1 0 0 0 7 31 0 1 277168 24024 34414 10152 18862 30782 126690 25778 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 1 0 0 0 7 31 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 50 RCV000274712.1 germline clinical testing VUS 1 Spherocytosis, Dominant transition C T C>T 0.000 -0.440 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.45652175 . . germline 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000274712.1 . MedGen CN239455 2 . . . 138.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.0449 . . . . . . . . 1.342e-04 . . . 0 0.0001 0 0 0 0.0002 0 0.0002 0 0.0001 0 0 0 0.0002 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.16 0.22 182 ENSG00000029534 . ANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200019819 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831299 0.000077 . . . . . 0 0.0002 0 0 0 0 0.0003 0.0002 0.0002 0.0001 9.687e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs200019819 rs200019819 1 1538 10 1/0 0,243,255 +rs34040483 8 42977591 G C - POMK 26267 Protein-O-mannose kinase NM_001277971.1 1 1527 1053 NP_001264900.1 Q9H5K3 substitution synonymous exon GRCh37 42977591 42977591 Chr8(GRCh37):g.42977591G>C 624 624 NM_001277971.1:c.624G>C p.Leu208= p.Leu208Leu 4 615247 342 3' 89.4547 9.67904 0.961012 9.0102 89.4547 9.67904 0.961012 9.0102 0 Protein kinase domain Protein kinase-like domain rs34040483 yes no Frequency/1000G 2 G benign 0.000000 0 0.004593 0.000800 0.000000 0.000000 0.012900 0.013000 0.006972 0.002332 0.003315 0.000296 0.000106 0.001560 0.012054 0.005239 0.007740 0.012054 1927 56 114 3 2 48 1519 135 50 276410 24010 34388 10126 18864 30778 126018 25766 6460 0.000087 0.000000 0.000116 0.000000 0.000000 0.000130 0.000111 0.000078 0.000000 12 0 2 0 0 2 7 1 0 1903 56 110 3 2 44 1505 133 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8490 4398 12888 110 8 118 0.0127907 0.00181571 0.00907274 0.0127907 0.00181571 0.00907274 57 RCV000245749.2 germline|germline clinical testing|clinical testing Benign 2 not specified transversion G C G>C 1.000 1.981 L Leu CTG 0.404 L Leu CTC 0.197 208 255 PASS . 0.01 0.01 . 0.01 0.0008 0.0046 0.013 . 0.013 . ENSG00000185900:ENST00000331373:exon5:c.G624C:p.L208L . . . . 0.48809522 . . germline 82 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Benign Benign RCV000245749.1 not_specified MedGen CN169374 2 . . . 168.0 . . . 0.0018 0.0091 0.013 0.0018 0.0091 0.013 . 1.1027 . . . . . . . . 6.953e-03 . . . 0.0021 0.0057 0.0030 0 0.0063 0.0097 0.0014 0.0018 0.0022 0.0067 0.0030 0 0.0056 0.0108 0 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.55 0.25 182 ENSG00000185900 SGK196 POMK . . . . . . 648 0.00997291 64976 626 0.0104358 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34040483 . . . . . . . . . . . . . . . . . . . . . . . 0.009073 . . . . III.26 0.0022 0.0068 0.0032 0.0003 5.8e-05 0.0053 0.0118 0.0078 0.0016 0.0025 0.0085 0.0095 0 0.0006 0.0046 0.0139 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.013 rs34040483 rs34040483 rs34040483 rs34040483 1 1538 10 1/0 0,238,255 +rs375078028 8 53573603 C A - RB1CC1 15574 RB1-inducible coiled-coil 1 NM_014781.4 -1 6667 4785 NP_055596.3 Q8TDY2 substitution intron GRCh37 53573603 53573603 Chr8(GRCh37):g.53573603C>A 1546-36 1546-36 NM_014781.4:c.1546-36G>T p.? p.? 11 10 606837 -36 3' 82.1161 6.58673 0.845643 0 82.1161 6.58673 0.845643 0 0 rs375078028 yes no Frequency 1 C 0.000000 0 0.000186 0.000459 0.000000 0.001003 0.000000 0.000000 0.000239 0.000000 0.000000 0.001003 51 11 0 10 0 0 30 0 0 274350 23950 33760 9966 18702 30342 125526 25702 6402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 11 0 10 0 0 30 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.58064514 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.1200 . . . . . . . . 1.500e-04 . . . 0.0005 0.0002 0 0 0 0.0002 0 0 0.0003 8.52e-05 0 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000023287 RB1CC1 RB1CC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375078028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0 0.0010 0 0 0.0002 0 0 0.0007 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375078028 rs375078028 1 1538 10 1/0 0,255,255 +rs778620731 8 53573604 A T - RB1CC1 15574 RB1-inducible coiled-coil 1 NM_014781.4 -1 6667 4785 NP_055596.3 Q8TDY2 substitution intron GRCh37 53573604 53573604 Chr8(GRCh37):g.53573604A>T 1546-37 1546-37 NM_014781.4:c.1546-37T>A p.? p.? 11 10 606837 -37 3' 82.1161 6.58673 0.845643 0 82.1161 6.58673 0.845643 0 0 Cryptic Donor Strongly Activated 53573604 4.35966 0.107393 65.1959 4.82261 0.159319 65.6749 rs778620731 yes no Frequency 1 A 0.000000 0 0.000150 0.000042 0.000000 0.001004 0.000000 0.000000 0.000239 0.000000 0.000000 0.001004 41 1 0 10 0 0 30 0 0 274158 23924 33726 9962 18696 30300 125446 25706 6398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 1 0 10 0 0 30 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 1.416 255 PASS . . . . . . . . . . . . . . . . 0.58064514 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.4935 . . . . . . . . 1.105e-04 . . . 0 9.982e-05 0 0 0 0.0002 0 0 0 5.679e-05 0 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000023287 RB1CC1 RB1CC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs778620731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.53 0 0.0002 0 0.0010 0 0 0.0002 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs115290812 8 59535860 T A - NSMAF 8017 Neutral sphingomyelinase (N-SMase) activation associated factor NM_001144772.1 -1 3510 2847 NP_001138244.1 substitution intron GRCh37 59535860 59535860 Chr8(GRCh37):g.59535860T>A 598-29 598-29 NM_001144772.1:c.598-29A>T p.? p.? 9 8 603043 -29 3' 84.3464 6.80829 0.976683 5.22404 84.3464 6.80829 0.976683 5.21413 0 rs115290812 yes no Frequency 1 C 0.000000 0 transversion A T A>T 0.000 -2.539 255 PASS . . . . . . . . . . . . . . . . 0.8181818 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.3988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.15 182 ENSG00000035681 NSMAF NSMAF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs115290812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs115290812 rs115290812 1 1538 10 1/0 0,255,255 +rs116544617 8 59535861 T A - NSMAF 8017 Neutral sphingomyelinase (N-SMase) activation associated factor NM_001144772.1 -1 3510 2847 NP_001138244.1 substitution intron GRCh37 59535861 59535861 Chr8(GRCh37):g.59535861T>A 598-30 598-30 NM_001144772.1:c.598-30A>T p.? p.? 9 8 603043 -30 3' 84.3464 6.80829 0.976683 5.22404 84.3464 6.80829 0.976683 5.42439 0 59535861 -65.6684 rs116544617 yes no Frequency/1000G 2 A 0.000000 0 0.275958 0.261000 0.265800 0.292700 0.339000 0.203200 0.000008 0.000000 0.000000 0.000000 0.000000 0.000033 0.000009 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 242808 14996 33148 9698 17062 30190 110112 22206 5396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes transversion A T A>T 0.000 -0.117 255 PASS . . . . . 0.26 0.28 0.2 0.29 0.34 0.27 . . . . . 0.8333333 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . 0.1542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2899 . . . 0.45 0.06 182 ENSG00000035681 NSMAF NSMAF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs116544617 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.237e-06 0 0 0 0 9.082e-06 0 3.312e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs116544617 rs116544617 1 1538 10 1/0 0,255,255 +rs144534227 8 59571986 C T - NSMAF 8017 Neutral sphingomyelinase (N-SMase) activation associated factor NM_001144772.1 -1 3510 2847 NP_001138244.1 substitution upstream GRCh37 59571986 59571986 Chr8(GRCh37):g.59571986C>T -81 -81 NM_001144772.1:c.-81G>A p.? p.? 1 603043 -233 5' 86.3702 9.25272 0.973567 XI.72 86.3702 9.25272 0.973567 XI.72 0 rs144534227 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.003377 0.000560 0.003002 0.004853 0.000000 0.000392 0.005794 0.001943 0.004341 0.005794 423 6 62 30 0 7 282 20 16 125266 10708 20652 6182 7196 17872 48674 10296 3686 0.000048 0.000000 0.000000 0.000000 0.000000 0.000112 0.000000 0.000000 0.001085 3 0 0 0 0 1 0 0 2 417 6 62 30 0 5 282 20 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.448 255 PASS . 0.0005 . . 0.0013 . 0.0006 . . 0.003 . . AX747379:uc003xtv.1:exon1:c.C121T:p.P41S . . . 0.41025642 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . 0.8908 . . . . . . . . 9.795e-04 . . . 0 0.0030 0 0 0 0.0103 0 0.0007 0 0.0027 0 0 0 0.0104 0 0.0007 . nonsynonymous_SNV . . . . UTR5 exonic intronic . . . 0.0006 . . . 0.4 0.42 182 ENSG00000035681 AX747379 NSMAF ENST00000427130:c.-81G>A . . . . . 354 0.00544817 64976 351 0.00585137 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144534227 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0037 0.0031 0.0048 0 0.0023 0.0066 0.0041 0.0004 0.0007 0.0025 0 0.0067 0 0.0011 0.0041 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs144534227 rs144534227 1 1538 10 1/0 0,255,255 +rs140953320 8 62491400 G C - ASPH 757 Aspartate beta-hydroxylase NM_004318.3 -1 5349 2277 NP_004309.2 Q12797 substitution intron GRCh37 62491400 62491400 Chr8(GRCh37):g.62491400G>C 1063-1983 1063-1983 NM_004318.3:c.1063-1983C>G p.? p.? 16 15 600582 -1983 3' 92.3874 9.24101 0.938153 8.77116 92.3874 9.24101 0.938153 8.77116 0 rs140953320 yes no Frequency/1000G 2 G 0.000000 0 0.004193 0.000800 0.000000 0.000000 0.013900 0.008600 0.009653 0.002404 0.004773 0.003311 0.000617 0.000000 0.014863 0.010876 0.011202 0.014863 299 21 4 1 1 0 223 38 11 30976 8734 838 302 1622 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 299 21 4 1 1 0 223 38 11 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C G C>G 1.000 2.788 255 PASS 0.002 0.01 0.01 . 0.02 0.0008 0.0042 0.0086 . 0.014 . . . . . . 0.3723404 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . 0.9734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . 0.0042 . . . 0.24 0.19 182 ENSG00000254285 ASPH ASPH . . . . . . 821 0.0126354 64976 801 0.0133531 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140953320 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VIII . . . . . . . . . 0.0024 0.0097 0.0048 0.0033 0.0006 0.0109 0.0149 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs140953320 rs140953320 1 1538 10 1/0 0,253,255 +rs185273349 8 65286051 A T - MIR124-2HG 48723 MIR124-2 host gene NR_109792.1 1 6557 0 substitution exon GRCh37 65286051 65286051 Chr8(GRCh37):g.65286051A>T 167 167 NR_109792.1:n.167A>T 1 -58 5' 75.4161 8.56441 0.840968 7.05647 75.4161 8.56441 0.840968 VI.56 0 Cryptic Acceptor Strongly Activated 65286056 2.59621 0.003508 77.0914 3.94309 0.212822 83.285 rs185273349 yes no Frequency/1000G 2 A 0.000000 0 0.003594 0.000800 0.005100 0.000000 0.008900 0.004300 0.008742 0.002753 0.002945 0.003185 0.000000 0.007933 0.015711 0.006717 0.006957 0.015711 1349 40 72 26 0 178 943 59 31 154308 14528 24448 8164 11468 22438 60022 8784 4456 0.000168 0.000000 0.000000 0.000000 0.000000 0.000357 0.000300 0.000000 0.000000 13 0 0 0 0 4 9 0 0 1323 40 72 26 0 170 925 59 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.000 0.044 255 PASS . 0.01 0.01 . 0.01 0.0008 0.0036 0.0043 . 0.0089 0.0051 . LOC100130155:uc022avc.2:exon1:c.A43T:p.K15X . . . 0.5272727 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 55.0 . . . . . . . . . . -0.8440 . . . . . . . . 6.265e-03 . . . 0 0.0071 0 0 . 0.0059 0.0085 0.0079 0 0.0071 0 0 . 0.0060 0.0085 0.0079 . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0036 . . . 0.6 0.68 182 ENSG00000254377 LOC100130155 MIR124-2HG . . . . . . 708 0.0108963 64976 689 0.011486 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185273349 . . . . . . . 0.005036630036630037 0.0 0.0055248618784530384 0.0 0.011873350923482849 II.39 . ENST00000520799 IV.56 -1.26 . 1.000000 . . . Name\x3dnsv523097 . . . . . . 0.0022 0.0086 0.0029 0.0031 0 0.0070 0.0159 0.0063 0.0079 0.0031 0.0093 0.0036 0.0066 0 0.0063 0.0150 0.0093 . . . . -0.348 -0.348000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.348 . 0.01 . . rs185273349 rs185273349 1 1538 10 1/0 0,255,255 +rs61734026 8 71646201 C T - XKR9 20937 XK, Kell blood group complex subunit-related family, member 9 NM_001011720.1 1 3174 1122 NP_001011720.1 Q5GH70 substitution missense exon GRCh37 71646201 71646201 Chr8(GRCh37):g.71646201C>T 664 664 NM_001011720.1:c.664C>T p.Leu222Phe p.Leu222Phe 5 171 3' 89.4825 X.72 0.986586 9.90398 89.4825 X.72 0.986586 9.90398 0 Transport protein XK rs61734026 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.002000 0.000000 0.014900 0.010100 0.009570 0.002625 0.006043 0.001978 0.000000 0.001857 0.013354 0.021311 0.009334 0.021311 2637 63 207 20 0 56 1683 548 60 275536 23998 34254 10112 18836 30164 126030 25714 6428 0.000138 0.000000 0.000058 0.000000 0.000000 0.000133 0.000175 0.000389 0.000000 19 0 1 0 0 2 11 5 0 2599 63 205 20 0 52 1661 538 60 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8486 4399 12885 110 7 117 0.0127966 0.00158874 0.00899862 0.0127966 0.00158874 0.00899862 188 transition C T C>T 1.000 1.981 L Leu CTT 0.129 F Phe TTT 0.454 222 12 9 Zebrafish 1 0 0 0 0 4.IX 5.II 111 132 22 C0 119.12 0.00 Tolerated 0.44 II.54 good 4.363E-2 0.001632 255 PASS . 0.01 0.01 . 0.01 . 0.0048 0.01 . 0.015 0.002 . . . . . 0.3902439 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.432 . @ . . . . . 1 0.744 . . 41.0 . . . 0.0016 0.009 0.013 0.0016 0.009 0.013 . 0.3179 0.359 0.318 c . . . . . 8.911e-03 . . . 0.0026 0.0073 0.0042 0 0.0221 0.0110 0.0042 0.0018 0.0026 0.0088 0.0041 0 0.0213 0.0127 0.0072 0.0018 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.706 . . exonic exonic exonic . . 0.584 0.0048 . . . 0.23 0.59 182 ENSG00000221947 XKR9 XKR9 . . . 0.006 0.112 . 779 0.011989 64976 756 0.0126029 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.569 . . 0.648 . . . 0.752 0.537 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.366 . . 0 0 0 0 0 0 . 0.428 . . 0.397 . . . . . . 0 0.313 . . . . . 0.408 . 0.196 . HET 0.18 rs61734026 . . . . . . . 0.005494505494505495 0.0 0.008287292817679558 0.0 0.011873350923482849 IX.09 0.002408 . IV.69 IV.69 . 0.090000 Q5GH70 . . Name\x3dnsv890997 0.008999 . 0.447 . . IV.69 0.0021 0.0096 0.0060 0.0019 0 0.0215 0.0136 0.0086 0.0019 0.0036 0.0096 0.0084 0.0033 0 0.0198 0.0117 0.0133 . . 0.246 . 2.597 2.597000 . . 0.090000 . . 1.0E-255 0.999 0.424 . 0.750 0.941 . 0.384 . 0.346 2.597 0.871 0.013 rs61734026 rs61734026 rs61734026 rs61734026 1 1538 10 1/0 0,255,255 +rs115753750 8 81083620 T C - TPD52 12005 Tumor protein D52 NM_001287140.1 -1 4370 744 NP_001274069.1 substitution upstream GRCh37 81083620 81083620 Chr8(GRCh37):g.81083620T>C -90932 -90932 NM_001287140.1:c.-90932A>G p.? p.? 1 604068 -91071 5' 74.6649 4.26878 0.957554 0 74.6649 4.26878 0.957554 0 0 rs115753750 yes no Frequency/1000G 2 0.000000 0 0.000058 0.000406 0.000000 0.000000 0.000000 0.000000 0.000054 0.000000 0.000000 0.000406 14 8 0 0 0 0 6 0 0 241810 19688 33420 9570 17058 29618 111124 15444 5888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 8 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -1.005 255 PASS 0.17 0.13 0.09 0.17 0.08 . . . . . . . . . . . 0.34375 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . 0.7516 . . . . . . . . . . . . 0.0002 4.398e-05 0 0 0 6.425e-05 0 0 0.0002 2.303e-05 0 0 0 2.173e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.38 182 ENSG00000076554 TPD52 TPD52 . . . . . . 2240 0.0344743 64976 2239 0.0373254 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115753750 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 5.181e-05 0 0 0 0 3.101e-05 0 0 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.17 . . rs115753750 rs115753750 1 1538 10 1/0 0,255,255 +rs138450218 (chr8:86555535 C/G) 8 86555535 C G No Alamut gene - other known genes: REXO1L8 REXO1L8 +rs141372017 (chr8:86568720 C/G) 8 86568720 C G Not on a known gene +. (chr8:86726895 C/G) 8 86726895 C G Not on a known gene +. (chr8:86726902 G/C) 8 86726902 G C Not on a known gene +. (chr8:86727535 G/C) 8 86727535 G C Not on a known gene +. (chr8:86748356 G/C) 8 86748356 G C Not on a known gene +. (chr8:86748989 G/C) 8 86748989 G C Not on a known gene +. 8 86757299 C G - REXO1L2P 32239 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene NR_003594.1 -1 1078 0 substitution exon GRCh37 86757299 86757299 Chr8(GRCh37):g.86757299C>G 463 463 NR_003594.1:n.463G>C 1 transversion G C G>C 0.992 2.707 124 PASS . . . . . . . . . . . ENSG00000255940:ENST00000540724:exon1:c.G1447C:p.D483H REXO1L2P:uc022axg.1:exon1:c.G376C:p.D126H . . . 0.16254418 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 566.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D155H|REXO1L2P|Non-coding_transcript|NON_CODING|NR_003594.6|NR_003594.6.ex.1) . . . . . . . -0.8333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000255940 REXO1L2P REXO1L2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.31 . . . . . . . . . . . . . V.97 . ENST00000540724 0.1 0.1 . 0.150000 A0PJM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.170 0.170000 . . 0.150000 . . 1.0E-124 . . . . . . . . . 0.170 . . . . . . 1 1538 10 1/0 0,163,255 +. 8 86757932 C G - REXO1L2P 32239 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene NR_003594.1 -1 1078 0 substitution upstream GRCh37 86757932 86757932 Chr8(GRCh37):g.86757932C>G -171 -171 NR_003594.1:n.-171G>C p.? p.? 1 transversion G C G>C 0.520 -1.167 254 PASS . . . . . . . . . . . ENSG00000255940:ENST00000540724:exon1:c.G814C:p.A272P . . . . 0.3167702 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 322.0 . . UPSTREAM(MODIFIER||||REXO1L2P|Non-coding_transcript|NON_CODING|NR_003594.6|) . . . . . . . -1.6632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic upstream\x3bdownstream upstream . . . @ . . . . . . ENSG00000255940 REXO1L2P\x3bREXO1L1 REXO1L2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000540724 0.1 0.1 . 1.000000 A0PJM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.205 -1.205000 . . 1.000000 . . 1.0000000000000001E-254 . . . . . . . . . -1.205 . . . . . . 1 1538 10 1/0 0,194,234 +. 8 86758576 C G - REXO1L2P 32239 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene NR_003594.1 -1 1078 0 substitution upstream GRCh37 86758576 86758576 Chr8(GRCh37):g.86758576C>G -815 -815 NR_003594.1:n.-815G>C p.? p.? 1 transversion G C G>C 0.020 -0.440 174 PASS . . . . . . . . . . . ENSG00000255940:ENST00000540724:exon1:c.G170C:p.R57P . . . . 0.10169491 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 177.0 . . UPSTREAM(MODIFIER||||REXO1L2P|Non-coding_transcript|NON_CODING|NR_003594.6|) . . . . . . . -1.0649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR3 upstream . . . @ . . . . . . ENSG00000255940 REXO1L1 REXO1L2P . uc022axh.1:c.*4979G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000540724 0.381 0.381 . 0.300000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.474 -0.474000 . . 0.300000 . . 1.0E-174 . . . . . . . . . -0.474 . . . . rs2017339 rs2017339 1 1538 10 1/0 0,202,255 +rs879605552 (chr8:86776299 C/G) 8 86776299 C G Not on a known gene +. (chr8:86776306 G/C) 8 86776306 G C Not on a known gene +. (chr8:86776944 C/G) 8 86776944 C G Not on a known gene +rs4248183 (chr8:86787860 C/G) 8 86787860 C G Not on a known gene +rs201763816 (chr8:86788493 C/G) 8 86788493 C G Not on a known gene +rs201965021 (chr8:86788500 G/C) 8 86788500 G C Not on a known gene +. (chr8:86803135 C/G) 8 86803135 C G Not on a known gene +. (chr8:86803768 C/G) 8 86803768 C G Not on a known gene +rs138945544 (chr8:86814788 G/T) 8 86814788 G T Not on a known gene +rs146597561 (chr8:86815328 C/G) 8 86815328 C G Not on a known gene +. (chr8:86815961 C/G) 8 86815961 C G Not on a known gene +rs148770074 (chr8:86815968 G/C) 8 86815968 G C Not on a known gene +rs372196077 (chr8:86816605 C/G) 8 86816605 C G Not on a known gene +rs150763050 (chr8:86827522 C/G) 8 86827522 C G Not on a known gene +rs139589976 (chr8:86828796 C/G) 8 86828796 C G Not on a known gene +. (chr8:86839709 C/G) 8 86839709 C G Not on a known gene +. (chr8:86840342 C/G) 8 86840342 C G Not on a known gene +. (chr8:86840349 G/C) 8 86840349 G C Not on a known gene +rs138635803 8 98943205 C T - MATN2 6908 Matrilin 2 NM_002380.4 1 4172 2871 NP_002371.3 O00339 substitution missense exon GRCh37 98943205 98943205 Chr8(GRCh37):g.98943205C>T 167 167 NM_002380.4:c.167C>T p.Ala56Val p.Ala56Val 3 602108 25 3' 85.6223 9.82175 0.924583 13.5356 85.6223 9.82175 0.924583 13.2834 0 Cryptic Donor Weakly Activated 98943203 57.8911 2.00084 0.239976 63.0285 von Willebrand factor, type A rs138635803 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.000800 0.009200 0.000000 0.007000 0.002900 0.004624 0.000375 0.004255 0.020377 0.000053 0.014525 0.003196 0.000546 0.008887 0.020377 1268 9 146 203 1 439 399 14 57 274226 24010 34314 9962 18826 30224 124838 25638 6414 0.000102 0.000000 0.000058 0.000803 0.000000 0.000596 0.000000 0.000000 0.000000 14 0 1 4 0 9 0 0 0 1240 9 144 195 1 421 399 14 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8320 3953 12273 26 3 29 0.00311526 0.000758342 0.00235734 0.00311526 0.000758342 0.00235734 53 transition C T C>T 0.992 3.757 A Ala GCA 0.226 V Val GTA 0.114 56 12 8 Dog 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 111.95 0.00 Tolerated 0.95 III.38 255 PASS 0.002 0.0023 . . 0.01 0.0008 0.0038 0.0029 . 0.007 0.0092 . . . . . 0.45945945 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.393 . @ . . . . . 1 0.692 . . 111.0 . . . 0.0008 0.0024 0.0031 0.0008 0.0024 0.0031 . 0.1023 0.258 0.102 c . . . . . 4.837e-03 . . . 0.0006 0.0064 0.0047 0 0.0013 0.0062 0.0262 0.0167 0.0007 0.0052 0.0048 0 0.0011 0.0044 0.0252 0.0168 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.779 . . exonic exonic exonic . . 0.600 0.0038 . . . 0.33 0.36 182 ENSG00000132561 MATN2 MATN2 . . . 1.000 0.747 . 170 0.00261635 64976 151 0.00251725 59986 Uncertain_significance . 0 . 0.320 . . . . . . . . . 37 . 0.497 . . 0.574 . . . 0.181 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.414 . . 0.397 . . . . . . 0 0.171 . . . . . 0.153 . 0.234 . HET 0.49 rs138635803 . . . . . . . 0.0022893772893772895 0.0020325203252032522 0.0 0.0 0.005277044854881266 V.65 6.12E-4 . V.64 IV.76 . 0.450000 . . . . 0.002357 . 0.312 . . IV.76 0.0004 0.0050 0.0043 0.0202 0 0.0006 0.0033 0.0096 0.0145 0.0003 0.0019 0.0024 0.0265 0.0006 0.0003 0.0026 0.0051 . . 0.609 . 2.673 2.673000 . . 0.450000 . . 1.0E-255 1.000 0.715 . 0.750 0.999 . 0.565 . 0.391 2.673 0.871 0.01 . . rs138635803 rs138635803 1 1538 10 1/0 0,249,255 +rs374484621 8 99837789 G C - STK3 11406 Serine/threonine kinase 3 NM_001256312.1 -1 3171 1560 NP_001243241.1 substitution intron GRCh37 99837789 99837789 Chr8(GRCh37):g.99837789G>C 111-50742 111-50742 NM_001256312.1:c.111-50742C>G p.? p.? 4 3 605030 -50742 3' 83.9643 V.47 0.543924 4.57849 83.9643 V.47 0.543924 4.57849 0 Cryptic Donor Strongly Activated 99837794 0.678106 0.163289 66.6362 6.47081 0.811445 79.3322 rs374484621 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.002660 0.000853 0.004262 0.002263 0.000000 0.000477 0.004529 0.000228 0.002913 0.004529 316 9 57 15 0 8 214 4 9 118778 10554 13374 6628 3592 16782 47248 17510 3090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 316 9 57 15 0 8 214 4 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6754 2884 9638 16 2 18 0.00236337 0.000693001 0.00186413 0.00236337 0.000693001 0.00186413 10 transversion C G C>G 0.016 -0.279 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.375 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . 0.0007 0.0019 0.0024 0.0007 0.0019 0.0024 . 0.9786 . . . . . . . . 1.176e-03 . . . 0 0.0020 0 0 0 0.0045 0 0.0009 0 0.0015 0 0 0 0.0036 0 0.0009 . . . . . . UTR5 UTR5 UTR5 . . . 0.0004 . . . 0.71 0.35 182 ENSG00000104375 STK3 STK3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374484621 . . . . . . . . . . . . . . . . . . . . . . . 0.001864 . . . . . 0 0.0028 0.0042 0.0024 0 0.0003 0.0049 0.0042 0.0005 0.0010 0.0022 0.0051 0 0 0 0.0036 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0024 . . rs374484621 rs374484621 1 1538 10 1/0 0,255,255 +rs28940272 8 100832259 A G - VPS13B 2183 Vacuolar protein sorting 13 homolog B NM_017890.4 1 14100 12069 NP_060360.3 Q7Z7G8 substitution missense exon GRCh37 100832259 100832259 Chr8(GRCh37):g.100832259A>G 8978 8978 NM_017890.4:c.8978A>G p.Asn2993Ser p.Asn2993Ser 49 607817 -92 5' 71.4931 7.63661 0.841212 0 71.4931 7.63661 0.841212 0 0 New Acceptor Site 100832260 4.82035 0.029509 74.3923 rs28940272 yes no Frequency/1000G 2 A pathogenic 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.002000 0.005800 0.003145 0.000957 0.004099 0.003547 0.000000 0.000520 0.004924 0.000543 0.002788 0.004924 871 23 141 36 0 16 623 14 18 276980 24032 34398 10150 18854 30780 126518 25792 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 869 23 141 36 0 14 623 14 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8552 4401 12953 48 5 53 0.0055814 0.00113482 0.00407504 0.0055814 0.00113482 0.00407504 131 RCV000081920.6|RCV000513475.1|RCV000002955.3 germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|literature only Conflicting interpretations of pathogenicity|Conflicting interpretations of pathogenicity|Pathogenic 1|1|0 not specified|not provided|Cohen syndrome CM041280 Cohen syndrome 15141358 DM COSM3698729|COSM3698729 Lung|Large intestine 0.000418|0.000443 2391|2257 transition A G A>G 1.000 5.209 N Asn AAT 0.464 S Ser AGT 0.149 2993 12 10 Baker's yeast 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Deleterious 0 3.VIII bad 9.447E-4 5.131E-5 255 PASS . 0.0018 0.01 . 0.0026 . 0.0014 0.0058 . 0.002 0.001 . . . . . 0.5555556 . . germline 30 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.502 . Pathogenic//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity Pathogenic|other RCV000002955.3|RCV000081920.5 Cohen_syndrome|not_specified MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0265223:216550:ORPHA193:56604005|CN169374 1 0.948 . . 54.0 . . . 0.0011 0.0041 0.0056 0.0011 0.0041 0.0056 . 0.6955 0.736 0.696 c . . . . . 3.181e-03 . . . 0.0011 0.0033 0.0032 0 0.0008 0.0055 0.0028 0.0007 0.0012 0.0030 0.0033 0 0.0008 0.0047 0.0029 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.807 . . exonic exonic exonic . . 0.983 0.0014 . . . 0.8 0.63 182 ENSG00000132549 VPS13B VPS13B . . . 1.000 0.747 . 321 0.00494029 64976 314 0.00523455 59986 Uncertain_significance . 0 . 0.629 . . . . D 0.660 0.054 . . 37 . 0.801 . . 0.844 . . . 0.281 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 1 0.790 . . 0 0 0 0 1 0 . 0.715 . . 0.807 . . . . . . 0 0.912 . . . . . 0.846 . 0.542 . HET 0 rs28940272 . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dCohen_syndrome\x3bCLNACC\x3dRCV000002955.1 CLINSIG\x3dpathogenic|non-pathogenic\x3bCLNDBN\x3dCohen_syndrome|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000002955.1|RCV000081920.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.\x3bCLNDSDBID\x3dNBK1482:C0265223:216550:ORPHA193:56604005|. CLINSIG\x3dpathogenic|non-pathogenic\x3bCLNDBN\x3dCohen_syndrome|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000002955.1|RCV000081920.3\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1482:C0265223:216550:ORPHA193:56604005|CN169374 CLINSIG\x3dpathogenic|non-pathogenic\x3bCLNDBN\x3dCohen_syndrome|not_specified\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000002955.1|RCV000081920.3\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1482:C0265223:216550:ORPHA193:56604005|CN169374 . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 16.6093 0.00107 . 6.VI 6.VI . 0.000000 . . . Name\x3dessv20276 0.004075 . 0.836 . . 6.VI 0.0008 0.0032 0.0040 0.0037 0 0.0006 0.0051 0.0033 0.0005 0.0013 0.0025 0.0072 0 0 0.0003 0.0039 0 . . 0.428 . 2.324 2.324000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.697 0.999 . 0.776 . 0.960 2.324 1.062 0.01 rs28940272 . rs28940272 . 1 1538 10 1/0 0,255,255 +rs372015313 8 101534778 C T - ANKRD46 27229 Ankyrin repeat domain 46 NM_001270379.1 -1 1730 699 NP_001257308.1 Q86W74 substitution intron GRCh37 101534778 101534778 Chr8(GRCh37):g.101534778C>T 636+56 636+56 NM_001270379.1:c.636+56G>A p.? p.? 5 5 56 5' 78.8946 5.55842 0.75664 2.43221 78.8946 5.55842 0.75664 2.37466 0 Cryptic Acceptor Strongly Activated 101534780 1.57101 0.005296 72.7651 2.62386 0.00594 72.7651 rs372015313 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000387 0.000083 0.000029 0.000000 0.000000 0.000000 0.000753 0.000311 0.000155 0.000753 107 2 1 0 0 0 95 8 1 276480 23998 34346 10126 18854 30726 126242 25740 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 107 2 1 0 0 0 95 8 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 67 transition G A G>A 0.008 1.255 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.39534885 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . 0.6929 . . . . . . . . 4.183e-04 . . . 0 0.0003 9.086e-05 0 0 0.0006 0 0 0 0.0004 9.377e-05 0 0.0002 0.0008 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.66 0.66 182 ENSG00000186106 ANKRD46 ANKRD46 . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372015313 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . . 0 0.0004 2.984e-05 0 0 0.0003 0.0008 0.0002 0 0.0002 0.0004 0 0 0 0.0006 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs372015313 rs372015313 1 1538 10 1/0 0,255,255 +rs62523272 8 103573033 A G - ODF1 8113 Outer dense fiber of sperm tails 1 NM_024410.3 1 994 753 NP_077721.2 Q14990 substitution missense exon GRCh37 103573033 103573033 Chr8(GRCh37):g.103573033A>G 674 674 NM_024410.3:c.674A>G p.Asn225Ser p.Asn225Ser 2 182878 354 3' 89.2754 9.52883 0.916898 X.35 89.2754 9.52883 0.916898 X.35 0 rs62523272 yes no Frequency/1000G 2 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 238090 12910 32806 9604 16786 30148 108684 21792 5360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 117 Exomes COSM1579432|COSM1579432|COSM1579432|COSM1579432|COSM1579432 Thyroid|Skin|Ovary|Large intestine|Haematopoietic and lymphoid tissue 0.001339|0.000812|0.001179|0.000448|0.000567 747|1232|848|2231|3530 transition A G A>G 0.000 -0.521 N Asn AAC 0.536 S Ser AGC 0.243 225 10 5 Cow 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 82.67 0.00 Tolerated 0.56 IV.32 good 8.7E-1 0.06859 200 PASS 0.06 0.1 0.14 0.14 0.08 . . . . . . . ODF1:uc003ykt.2:exon2:c.A674G:p.N225S ODF1:NM_024410:exon2:c.A674G:p.N225S . . 0.10828026 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.007 . . 157.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N225S|ODF1|mRNA|CODING|NM_024410|NM_024410.ex.2) . . . . . . . -1.3000 -1.314 -1.300 c . . . . . . . . . . . . . . . . . 0 3.938e-05 0 0 0 6.709e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.100 @ . . . 0.1 0.3 182 ENSG00000155087 ODF1 ODF1 . . . 0.940 0.274 . . . . . . . Uncertain_significance . 0 . 0.184 . . . . T 0.192 0.007 . . 37 . 0.012 . . 0.052 . . . 0.246 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.140 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.095 . . . . . 0.208 . 0.016 . LowAF 1 rs62523272 . 0.007 . . . . . 0.09935897435897435 0.05894308943089431 0.13535911602209943 0.1381118881118881 0.079155672823219 VI.33 0.062905 . V.44 -0.902 . 1.000000 Q14990 . . Name\x3desv33118 . . 0.004 . . . 0 8.4e-06 0 0 0 0 1.84e-05 0 0 . . . . . . . . . . 0.083 . -0.321 -0.321000 . . 1.000000 . . 1.0E-200 0.007 0.175 . 0.062 0.006 . 0.148 . 0.008 -0.321 -0.889 0.14 rs62523272 rs62523272 rs62523272 rs62523272 1 1538 10 1/0 0,255,255 +rs62523273 8 103573037 G C - ODF1 8113 Outer dense fiber of sperm tails 1 NM_024410.3 1 994 753 NP_077721.2 Q14990 substitution synonymous exon GRCh37 103573037 103573037 Chr8(GRCh37):g.103573037G>C 678 678 NM_024410.3:c.678G>C p.Pro226= p.Pro226Pro 2 182878 358 3' 89.2754 9.52883 0.916898 X.35 89.2754 9.52883 0.916898 X.35 0 Cryptic Acceptor Strongly Activated 103573043 4.72964 0.009153 70.9969 5.98179 0.098108 74.9681 rs62523273 yes no Frequency/1000G 2 C 0.000000 0 0.000048 0.000417 0.000059 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000417 13 9 2 0 0 0 2 0 0 268280 21604 33618 9832 18386 30092 123228 25206 6314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 9 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7902 3579 11481 540 691 1231 0.0639659 0.161827 0.0968376 0.0639659 0.161827 0.0968376 58 COSM3762959|COSM3762959|COSM3762959|COSM3762959|COSM3762959|COSM3762959|COSM3762959 Thyroid|Skin|Prostate|Oesophagus|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.002677|0.000812|0.001134|0.000712|0.001345|0.001157|0.000567 747|1232|1764|1405|2231|1729|3530 transversion G C G>C 0.480 -0.844 P Pro CCG 0.115 P Pro CCC 0.328 226 198 PASS 0.2 0.14 0.15 0.14 0.09 . . . . . . . ODF1:uc003ykt.2:exon2:c.G678C:p.P226P ODF1:NM_024410:exon2:c.G678C:p.P226P . . 0.10714286 . . @ 18 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 168.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccC|P226|ODF1|mRNA|CODING|NM_024410|NM_024410.ex.2) 0.16 0.097 0.064 0.16 0.097 0.064 . 0.6625 . . . . . . . . 7.633e-05 . . . 0.0006 4.614e-05 0 0 0 0 0 0 0.0003 5.854e-05 0 0 0 6.741e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.13 0.29 182 ENSG00000155087 ODF1 ODF1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62523273 0.011 0.014 . . . . . . . . . . . . . . . . . . . . Name\x3desv33118 0.096838 . . . . . 0.0003 3.365e-05 6.1e-05 0 0 0 1.844e-05 0 0 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . 0.2 rs62523273 rs62523273 rs62523273 rs62523273 1 1538 10 1/0 0,248,255 +rs142123946 8 123964912 G A - ZHX2 18513 Zinc fingers and homeoboxes 2 NM_014943.3 1 4359 2514 NP_055758.1 Q9Y6X8 substitution missense exon GRCh37 123964912 123964912 Chr8(GRCh37):g.123964912G>A 1162 1162 NM_014943.3:c.1162G>A p.Val388Ile p.Val388Ile 3 609185 -1357 5' 87.6072 8.55395 0.971725 IX.86 87.6072 8.55395 0.971725 IX.86 0 rs142123946 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008900 0.001400 0.003634 0.000500 0.005404 0.006010 0.000106 0.000715 0.005068 0.001319 0.007423 0.006010 1007 12 186 61 2 22 642 34 48 277142 24014 34418 10150 18860 30780 126668 25786 6466 0.000036 0.000000 0.000058 0.000197 0.000000 0.000130 0.000016 0.000000 0.000000 5 0 1 1 0 2 1 0 0 997 12 184 59 2 18 640 34 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4403 12960 43 3 46 0.005 0.00068089 0.00353683 0.005 0.00068089 0.00353683 64 transition G A G>A 1.000 5.694 V Val GTC 0.240 I Ile ATC 0.481 388 13 9 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.12 III.35 good 5.199E-1 0.057 255 PASS . 0.0023 . . 0.01 . 0.002 0.0014 . 0.0089 . ENSG00000178764:ENST00000314393:exon3:c.G1162A:p.V388I . ZHX2:NM_014943:exon3:c.G1162A:p.V388I . . 0.48387095 . . @ 75 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.536 . @ . . . . . 1 0.745 . . 155.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V388I|ZHX2|mRNA|CODING|NM_014943|NM_014943.ex.3) 0.0007 0.0035 0.005 0.0007 0.0035 0.005 . 0.6311 0.676 0.631 c . . . . . 4.136e-03 . . . 0.0007 0.0034 0.0082 0.0002 0.0018 0.0044 0.0056 0.0005 0.0008 0.0044 0.0083 0.0001 0.0020 0.0062 0.0043 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.893 0.0020 . . . 0.33 0.35 182 ENSG00000178764 ZHX2 ZHX2 . . . 1.000 0.747 . 322 0.00495568 64976 312 0.00520121 59986 Benign . 0 . 0.443 . . . . T 0.295 0.012 . . 37 . 0.288 . . 0.006 . . . 0.430 0.499 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.764 . . 0.608 . . . . . . 0 0.132 . . . . . 0.971 . 0.383 . HET 0.4 rs142123946 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 19.9161 5.35E-4 ENST00000314393 V.72 V.72 . 0.390000 Q9Y6X8 . . . 0.003537 . 0.932 . . V.72 0.0005 0.0038 0.0054 0.0062 0.0001 0.0015 0.0053 0.0082 0.0007 0.0005 0.0022 0.0048 0 0 0.0003 0.0037 0.0031 . . 0.609 . 2.718 2.718000 . . 0.390000 . . 1.0E-255 1.000 0.715 . 0.888 0.991 . 0.837 . 0.430 2.718 0.917 0.01 . . rs142123946 rs142123946 1 1538 10 1/0 0,243,255 +rs780904968 8 126071558 C T - WASHC5 28984 WASH complex subunit 5 NM_014846.3 -1 4166 3480 NP_055661.3 Q12768 substitution intron GRCh37 126071558 126071558 Chr8(GRCh37):g.126071558C>T 1689-19 1689-19 NM_014846.3:c.1689-19G>A p.? p.? 14 13 610657 -19 3' 92.9133 X.14 0.996588 9.27363 92.9133 10.1352 0.996626 9.20989 -0.0155459 rs780904968 yes no Frequency 1 C 0.000000 0 0.000008 0.000065 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000065 2 1 0 0 0 0 1 0 0 246116 15300 33576 9846 17244 30782 111588 22298 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4814815 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||KIAA0196|mRNA|CODING|NM_014846|) . . . . . . . 0.1154 . . . . . . . . 7.893e-06 . . . . . . . . . . . 0 9.42e-06 0 0 0 1.841e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000164961 KIAA0196 KIAA0196 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs780904968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.536e-05 8.126e-06 0 0 0 0 8.962e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs184361892 8 131921819 T C - ADCY8 239 Adenylate cyclase 8 (brain) NM_001115.2 -1 4101 3756 NP_001106.1 P40145 substitution intron GRCh37 131921819 131921819 Chr8(GRCh37):g.131921819T>C 1640+135 1640+135 NM_001115.2:c.1640+135A>G p.? p.? 6 6 103070 135 5' 81.5823 8.90513 0.982354 1.57473 81.5823 8.90513 0.982354 1.57473 0 rs184361892 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.004455 0.000573 0.000000 0.000000 0.000000 0.000000 0.003997 0.019187 0.006110 0.019187 138 5 0 0 0 0 60 67 6 30978 8732 838 302 1620 0 15012 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 138 5 0 0 0 0 60 67 6 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -0.198 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0004 0.0014 . 0.001 . . . . . . 0.5952381 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||ADCY8|mRNA|CODING|NM_001115|) . . . . . . . 0.0631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.24 0.32 182 ENSG00000155897 ADCY8 ADCY8 . . . . . . 233 0.00358594 64976 231 0.0038509 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs184361892 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv891448 . . . . . . . . . . . . . . . 0.0006 0.0045 0 0 0 0.0192 0.0040 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs184361892 rs184361892 1 1538 10 1/0 0,255,255 +rs72727436 8 133961213 T A - TG 11764 Thyroglobulin NM_003235.4 1 8453 8307 NP_003226.4 P01266 substitution intron GRCh37 133961213 133961213 Chr8(GRCh37):g.133961213T>A 5401+25 5401+25 NM_003235.4:c.5401+25T>A p.? p.? 27 27 188450 25 5' 78.5965 9.35354 0.9933 4.35606 78.5965 9.35354 0.9933 4.50541 0 rs72727436 yes no Frequency/1000G 2 T 0.000000 0 0.005391 0.000800 0.017400 0.000000 0.006000 0.004300 0.009437 0.001875 0.002239 0.004236 0.000053 0.011569 0.014984 0.004635 0.009636 0.014984 2585 45 77 43 1 356 1895 106 62 273914 23994 34390 10150 18834 30772 126470 22870 6434 0.000197 0.000167 0.000000 0.000000 0.000000 0.000390 0.000300 0.000000 0.000000 27 2 0 0 0 6 19 0 0 2531 41 77 43 1 344 1857 106 62 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8467 4397 12864 133 9 142 0.0154651 0.00204267 0.010918 0.0154651 0.00204267 0.010918 136 transversion T A T>A 0.000 -0.037 255 PASS 0.0041 0.0041 0.0028 . 0.01 0.0008 0.0054 0.0043 . 0.006 0.017 . . . . . 0.53571427 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||TG|mRNA|CODING|NM_003235|) 0.002 0.011 0.015 0.002 0.011 0.015 . 0.2112 . . . . . . . . 9.771e-03 . . . 0.0017 0.0083 0.0023 0.0002 0.0045 0.0120 0.0113 0.0109 0.0018 0.0096 0.0022 0.0001 0.0044 0.0140 0.0115 0.0109 . . . . . . intronic intronic intronic . . . 0.0054 . . . 0.18 0.4 182 ENSG00000042832 TG TG . . . . . . 732 0.0112657 64976 705 0.0117527 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72727436 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010918 . . . . . 0.0019 0.0096 0.0023 0.0044 5.809e-05 0.0049 0.0151 0.0084 0.0116 0.0018 0.0084 0.0012 0 0 0.0034 0.0144 0.0163 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.015 . rs72727436 rs72727436 rs72727436 1 1538 10 1/0 0,255,255 +rs2929976 8 134251449 T C - NDRG1 7679 N-myc downstream regulated 1 NM_001135242.1 -1 3478 1185 NP_001128714.1 Q92597 substitution intron GRCh37 134251449 134251449 Chr8(GRCh37):g.134251449T>C 944-87 944-87 NM_001135242.1:c.944-87A>G p.? p.? 16 15 605262 -87 3' 78.8886 10.1736 0.749718 13.3181 78.8886 10.1736 0.749718 13.3181 0 134251449 -62.6604 rs2929976 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30927 8722 838 302 1618 0 14973 3494 980 30928 8722 838 302 1618 0 14974 3494 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15463 4361 419 151 809 0 7486 1747 490 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition A G A>G 0.000 0.528 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 0.1567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic intronic . . . 0.0000 . . . 0.44 0.23 182 ENSG00000104419 AX746885 NDRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2929976 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs2929976 rs2929976 rs2929976 rs2929976 1 1538 255 1.I 0,0,255 +. 8 139620082 G T - COL22A1 22989 Collagen, type XXII, alpha 1 NM_152888.2 -1 6359 4881 NP_690848.1 Q8NFW1 substitution intron GRCh37 139620082 139620082 Chr8(GRCh37):g.139620082G>T 4032+97 4032+97 NM_152888.2:c.4032+97C>A p.? p.? 57 57 610026 97 5' 74.1084 7.21055 0.929884 5.30524 74.1084 7.21055 0.929884 5.30524 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000133 2 0 0 0 0 0 2 0 0 30964 8720 838 302 1620 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.51282054 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||COL22A1|mRNA|CODING|NM_152888|) . . . . . . . 0.0380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000169436 COL22A1 COL22A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv891514 . . . . . . . . . . . . . . . 0 6.459e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs7837674 8 139688697 A G - COL22A1 22989 Collagen, type XXII, alpha 1 NM_152888.2 -1 6359 4881 NP_690848.1 Q8NFW1 substitution intron GRCh37 139688697 139688697 Chr8(GRCh37):g.139688697A>G 3150+104 3150+104 NM_152888.2:c.3150+104T>C p.? p.? 41 41 610026 104 5' 78.4708 7.52484 0.971345 2.97043 78.4708 7.52484 0.971345 2.97043 0 rs7837674 yes no Frequency/1000G 2 0.000000 0 transition T C T>C 0.039 0.044 111 PASS 0.3 0.48 0.49 0.52 0.57 . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||COL22A1|mRNA|CODING|NM_152888|) . . . . . . . -0.3881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.15 182 ENSG00000169436 COL22A1 COL22A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7837674 0.228 0.254 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv891514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.57 rs7837674 rs7837674 rs7837674 rs7837674 1 1538 255 1.I 0,0,255 +rs576356199 8 142166142 C A - DENND3 29134 DENN domain containing 3 NM_001352890.1 1 5504 3837 NP_001339819.1 substitution intron GRCh37 142166142 142166142 Chr8(GRCh37):g.142166142C>A 1196+73 1196+73 NM_001352890.1:c.1196+73C>A p.? p.? 8 8 617503 73 5' 79.2306 9.64788 0.754518 II.61 79.2306 9.64788 0.754518 II.12 0 rs576356199 yes no Frequency 1 C 0.000000 0 0.000388 0.000229 0.000000 0.000000 0.000000 0.000000 0.000667 0.000000 0.000000 0.000667 12 2 0 0 0 0 10 0 0 30958 8724 838 302 1620 0 15002 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 2 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||DENND3|mRNA|CODING|NM_014957|) . . . . . . . -0.0032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000105339 DENND3 DENND3 . . . . . . 55 0.000846466 64976 55 0.000916881 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs576356199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 142228087 GCTCCGGT G - SLC45A4 29196 Solute carrier family 45, member 4 NM_001286646.1 -1 7233 2427 NP_001273575.1 deletion intron GRCh37 142228087 142228093 Chr8(GRCh37):g.142228087_142228093del 1629+17 1629+23 NM_001286646.1:c.1629+17_1629+23del p.? p.? 4 4 17 5' 95.331 X.37 0.996483 15.0357 95.331 X.37 0.996483 15.6191 0 CGGAGCG 255 Pass . . . . . . . . . . . . . . . . 0.46153846 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000022567 SLC45A4 SLC45A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +. 8 143746087 CCA C - JRK 6199 Jrk homolog (mouse) NM_003724.2 -1 9116 1707 NP_003715.2 deletion frameshift exon NG_012215.1 10311 10312 NG_012215.1:g.10311_10312del 1387 1388 NM_003724.2:c.1387_1388del p.Trp463Glufs*9 p.Trp463Glufs*9 2 603210 1849 3' 84.729 8.75345 0.931995 12.0272 84.729 8.75345 0.931995 12.0272 0 rs559317070 no no 0 0.000000 0 0.999800 1.000000 1.000000 0.999000 1.000000 1.000000 0.999989 0.999956 1.000000 1.000000 1.000000 1.000000 0.999983 1.000000 1.000000 1.000000 266761 22669 34076 9868 18542 29934 120738 24606 6328 266764 22670 34076 9868 18542 29934 120740 24606 6328 0.999978 0.999912 1.000000 1.000000 1.000000 1.000000 0.999967 1.000000 1.000000 133379 11334 17038 4934 9271 14967 60368 12303 3164 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TG 255 Pass 0.98 0.99 0.99 0.98 1. 1. 1. 1. 1. 1. 1. . . . . . 0.97938144 . . . 95 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 97 . . . 1. 1. 1. . . . . . . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 1.0000 1 0.9999 1 1.0000 1 1 0.9998 1.0000 1 0.9999 . frameshift_deletion . . . . ncRNA_exonic exonic splicing . . . . . . . . . . ENSG00000234616 JRK JRK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs33951456 0.304 0.232 . . . . . . . . . . . . . . . . . . . . . 0.999915 . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs33951456 rs33951456 1 1538 255 1.I 0,0,255 +. 8 143763742 G A - PSCA 9500 Prostate stem cell antigen NM_005672.4 1 1023 345 NP_005663.2 substitution 3'UTR GRCh37 143763742 143763742 Chr8(GRCh37):g.143763742G>A *192 *192 NM_005672.4:c.*192G>A p.? p.? 3 602470 404 3' 81.1768 5.93637 0.647618 8.08344 81.1768 5.93637 0.647618 8.08344 0 0.000032 0.000000 0.000169 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000169 4 0 4 0 0 0 0 0 0 125656 5848 23616 7850 9854 22422 47240 5318 3508 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 113 Exomes transition G A G>A 0.000 -1.893 255 PASS . . . . . . . . . . . . PSCA:uc022bcd.1:exon3:c.G350A:p.R117Q . . . 0.52873564 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . 0.3829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . . . . ENSG00000167653 PSCA PSCA ENST00000301258:c.*192G>A . NM_005672:c.*192G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.183e-05 0.0002 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs144068761 8 144375150 C G - ZNF696 25872 Zinc finger protein 696 NM_030895.2 1 4686 1125 NP_112157.2 Q9H7X3 substitution 5'UTR GRCh37 144375150 144375150 Chr8(GRCh37):g.144375150C>G -22 -22 NM_030895.2:c.-22C>G p.? p.? 2 9 3' 0 6.89076 0.353507 3.63463 0 6.89076 0.266237 3.49553 -0.123435 rs144068761 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.002851 0.000711 0.002742 0.001789 0.000000 0.001570 0.004201 0.002349 0.003108 0.004201 785 17 94 18 0 48 528 60 20 275304 23908 34282 10064 18828 30566 125678 25542 6436 0.000036 0.000000 0.000058 0.000000 0.000000 0.000065 0.000032 0.000078 0.000000 5 0 1 0 0 1 2 1 0 775 17 92 18 0 46 524 58 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4403 12969 34 3 37 0.00395349 0.00068089 0.00284484 0.00395349 0.00068089 0.00284484 52 transversion C G C>G 0.004 0.932 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0004 0.0014 . 0.001 . ENSG00000185730:ENST00000523891:exon3:c.C27G:p.F9L . . . . 0.44444445 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.110 . @ . . . . . 2 0.054 . . 63.0 . . UTR_5_PRIME(MODIFIER||||ZNF696|mRNA|CODING|NM_030895|NM_030895.ex.2) 0.0007 0.0028 0.004 0.0007 0.0028 0.004 . -0.5307 -0.750 -0.531 c . . . . . 2.819e-03 . . . 0.0010 0.0030 0.0034 0 0.0018 0.0046 0.0034 0.0016 0.0008 0.0030 0.0035 0 0.0031 0.0041 0.0036 0.0017 nonsynonymous_SNV . . . . . exonic UTR5 UTR5 . . 0.203 0.0004 . . . 0.38 0.45 182 ENSG00000185730 ZNF696 ZNF696 . uc003yxy.4:c.-22C>G NM_030895:c.-22C>G 1.000 0.480 . 175 0.0026933 64976 173 0.00288401 59986 . . 0 . . . . . . . . . . . 37 . 0.590 . . 0.609 . . . . 0.810 . . . . . . . . . . . . . . . 0.534 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . 0.180 . 0.255 . HET . rs144068761 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 V.79 8.03E-4 ENST00000523891 I.24 I.24 . 0.000000 . . . . 0.002845 . 0.053 . . . 0.0007 0.0030 0.0027 0.0018 0 0.0024 0.0044 0.0035 0.0016 0.0008 0.0018 0.0036 0 0 0.0023 0.0025 0.0010 . . 0.854 . 1.013 1.013000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.006 . 0.190 . 0.118 1.013 0.356 0.004 . . rs144068761 rs144068761 1 1538 10 1/0 0,255,255 +rs879984530 8 144873978 T G - SCRIB 30377 Scribbled planar cell polarity protein NM_182706.4 -1 5218 4968 NP_874365.3 substitution intron GRCh37 144873978 144873978 Chr8(GRCh37):g.144873978T>G 4695+68 4695+68 NM_182706.4:c.4695+68A>C p.? p.? 35 34 607733 -68 3' 74.9519 5.97596 0.208135 5.76654 74.9519 5.97596 0.208135 6.13953 0 144873978 -70.4118 rs879984530 no no 0 T 0.000000 0 0.008258 0.007353 0.010929 0.007246 0.008834 0.000000 0.009469 0.005495 0.004566 0.010929 108 27 4 1 5 0 61 8 2 13078 3672 366 138 566 0 6442 1456 438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 27 4 1 5 0 61 8 2 0 0 0 0 0 0 0 0 0 RF 78 Genomes transversion A C A>C 0.000 -0.602 175 PASS . . . . . . . . . . . . . . . . 0.10309278 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . 0.2843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000180900 SCRIB SCRIB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0074 0.0083 0.0109 0.0072 0.0088 0.0055 0.0095 0.0046 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs112565420 8 144942204 G C - EPPK1 15577 Epiplakin 1 NM_031308.3 -1 16007 15267 NP_112598.3 substitution missense exon LRG_880 15429 15429 LRG_880:g.15429C>G 5218 5218 NM_031308.3:c.5218C>G p.Leu1740Val p.Leu1740Val 2 607553 5263 3' 89.889 XI.65 0.975659 XI.04 89.889 XI.65 0.975659 XI.04 0 Cryptic Donor Strongly Activated 15424 4.45944 0.148475 63.2077 8.97904 0.96776 75.9037 rs112565420 no no 0 G 0.000000 0 transversion C G C>G 0.000 L Leu CTG 0.404 V Val GTG 0.468 1740 12 9 Fruitfly 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 136.08 0.00 Tolerated 0.1 II.83 198 PASS . . . . . . . . . . . ENSG00000227184:ENST00000525985:exon2:c.C5218G:p.L1740V EPPK1:uc003zaa.1:exon1:c.C5218G:p.L1740V EPPK1:NM_031308:exon2:c.C5218G:p.L1740V . . 0.15422885 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.150 . @ . . . . . 1 0.124 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L1740V|EPPK1|mRNA|CODING|NM_031308|NM_031308.ex.2) . . . . . . . -0.6079 -0.657 -0.608 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.083 @ . . . 0.33 0.31 182 ENSG00000227184 EPPK1 EPPK1 . . . 0.998 0.360 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.184 0.007 . . 37 . 0.539 . . 0.404 . . . 0.533 0.229 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.375 . . 0.323 . . . . . . 0 . . . . . . 0.092 . 0.068 . HET . rs112565420 . . . . . . . . . . . . 4.038 . ENST00000525985 5.XI -1.45 . 0.300000 E9PPU0 . . . . . 0.233 . . . . . . . . . . . . . . . . . . . . . . 0.821 . -0.502 -0.502000 . . 0.300000 . . 1.0E-198 0.013 0.187 . 0.888 0.998 . 0.028 . 0.416 -0.502 0.917 . . . rs112565420 rs112565420 1 1538 10 1/0 0,201,255 +rs201424010 8 145138351 C T - GPAA1 4446 Glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) NM_003801.3 1 2067 1866 NP_003792.1 O43292 substitution missense exon GRCh37 145138351 145138351 Chr8(GRCh37):g.145138351C>T 314 314 NM_003801.3:c.314C>T p.Thr105Met p.Thr105Met 3 603048 -53 5' 55.0601 0 0.002277 0.876854 55.0601 0 0.002277 0 0 Glycosylphosphatidylinositol rs201424010 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.001000 0.001000 0.000000 0.000415 0.000000 0.000000 0.000000 0.001802 0.000422 0.000245 0.001318 0.000465 0.001802 115 0 0 0 34 13 31 34 3 277082 24002 34418 10150 18866 30780 126620 25790 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 113 0 0 0 34 13 31 32 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8338 4026 12364 2 0 2 0.000239808 0 0.000161734 0.000239808 0 0.000161734 64 transition C T C>T 0.992 1.577 T Thr ACG 0.116 M Met ATG 1.000 105 13 10 C. elegans -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 244.82 0.00 Deleterious 0.02 II.87 good 6.805E-2 0.03278 255 PASS . 0.0005 . . 0.0013 . 0.0004 . 0.001 0.001 . . . GPAA1:NM_003801:exon3:c.C314T:p.T105M . . 0.4241245 . . @ 109 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.549 . @ . . . . . 1 0.926 . . 257.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.3834 0.352 0.383 c . . . . . 3.747e-04 . . . 0 0.0003 0 0.0027 0.0008 0.0002 0 0.0003 0 0.0003 0 0.0015 0.0011 0.0002 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.372 0.0004 . . . 0.33 0.29 182 ENSG00000197858 GPAA1 GPAA1 . . . 1.000 0.747 . 11 0.000169293 64976 9 0.000150035 59986 Uncertain_significance . 0 . 0.460 . . . . T 0.389 0.017 . . 37 . 0.638 . . 0.631 . . . 0.640 0.516 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.684 . . 0 0 0 0 0 0 . 0.715 . . 0.565 . . . . . . 2 0.784 . . . . . 0.442 . 0.241 . HET 0 rs201424010 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 X.67 0.0 . V.27 III.34 . 0.200000 . . . . 0.000162 . 0.307 . . III.34 0 0.0004 0 0 0.0019 0.0014 0.0002 0.0004 0.0004 0 0.0005 0 0 0.0012 0.0009 0.0006 0.0010 . . 0.994 . 1.219 1.219000 . . 0.200000 . . 1.0E-255 0.795 0.294 . 0.653 0.947 . 0.322 . 0.343 1.219 -0.064 0.0013 . . rs201424010 rs201424010 1 1538 10 1/0 0,215,250 +. 8 145151665 TGGCAGTGGGCATGTGGAATACTTCTCC T - CYC1 2579 Cytochrome c-1 NM_001916.4 1 1234 978 NP_001907.2 P08574 deletion intron GRCh37 145151666 145151692 Chr8(GRCh37):g.145151666_145151692del 772+19 772+45 NM_001916.4:c.772+19_772+45del p.? p.? 5 5 123980 19 5' 85.8533 9.47697 0.971991 5.49487 85.8533 9.47697 0.971991 6.16114 0 rs67708571 no no 0 likely_benign 0.000000 0 RCV000486568.1 germline clinical testing Likely benign 1 not specified GGCAGTGGGCATGTGGAATACTTCTCC 255 Pass . . . . . . . . . . . . . . . . 0.987013 . . . 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000179091 CYC1 CYC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs67708571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67708571 rs67708571 rs67708571 1 1538 255 1.I 0,0,255 +. 8 145151665 TGGCAGTGGGCATGTGGAATACTTCTCC T - SHARPIN 25321 SHANK-associated RH domain interactor NM_030974.3 -1 1816 1164 NP_112236.3 Q9H0F6 deletion downstream GRCh37 145151666 145151692 Chr8(GRCh37):g.145151666_145151692del *2012 *2038 NM_030974.3:c.*2012_*2038del p.? p.? 9 611885 2000 3' 83.3193 9.26581 0.986616 8.55575 83.3193 9.26581 0.986616 8.55575 0 rs67708571 no no 0 likely_benign 0.000000 0 RCV000486568.1 germline clinical testing Likely benign 1 not specified GGAGAAGTATTCCACATGCCCACTGCC 255 Pass . . . . . . . . . . . . . . . . 0.987013 . . . 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000179091 CYC1 CYC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs67708571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67708571 rs67708571 rs67708571 1 1538 255 1.I 0,0,255 +rs73717807 8 145151693 A C - CYC1 2579 Cytochrome c-1 NM_001916.4 1 1234 978 NP_001907.2 P08574 substitution intron GRCh37 145151693 145151693 Chr8(GRCh37):g.145151693A>C 772+46 772+46 NM_001916.4:c.772+46A>C p.? p.? 5 5 123980 46 5' 85.8533 9.47697 0.971991 5.49487 85.8533 9.47697 0.971991 5.94956 0 Cryptic Acceptor Strongly Activated 145151704 7.05395 0.687222 81.7433 9.34791 0.86815 81.7433 rs73717807 no no 0 A 0.000000 0 transversion A C A>C 0.000 -0.924 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 0.3426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.21 182 ENSG00000179091 CYC1 CYC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs73717807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . rs73717807 rs73717807 rs73717807 1 1538 255 1.I 0,0,255 +rs73717807 8 145151693 A C - SHARPIN 25321 SHANK-associated RH domain interactor NM_030974.3 -1 1816 1164 NP_112236.3 Q9H0F6 substitution downstream GRCh37 145151693 145151693 Chr8(GRCh37):g.145151693A>C *2011 *2011 NM_030974.3:c.*2011T>G p.? p.? 9 611885 1999 3' 83.3193 9.26581 0.986616 8.55575 83.3193 9.26581 0.986616 8.55575 0 Cryptic Donor Strongly Activated 145151698 0.02365 60.4924 III.42 0.14736 72.8852 rs73717807 no no 0 A 0.000000 0 transversion T G T>G 0.000 -0.924 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 0.3426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.21 182 ENSG00000179091 CYC1 CYC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs73717807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . rs73717807 rs73717807 rs73717807 1 1538 255 1.I 0,0,255 +rs781817530 8 145514935 C T - BOP1 15519 Block of proliferation 1 NM_015201.4 -1 2427 2241 NP_056016.1 Q14137 substitution intron GRCh37 145514935 145514935 Chr8(GRCh37):g.145514935C>T 99+19 99+19 NM_015201.4:c.99+19G>A p.? p.? 1 1 610596 19 5' 79.887 5.88454 0.479004 11.148 79.887 5.88454 0.479004 X.98 0 rs781817530 yes no Frequency 1 C 0.000000 0 0.000225 0.000000 0.000312 0.000604 0.000000 0.000000 0.000313 0.000000 0.000671 0.000604 23 0 4 4 0 0 13 0 2 102268 9544 12802 6628 3188 15738 41536 9852 2980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 0 4 4 0 0 13 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.016 0.125 255 PASS . . . . . . . . . . . . . . . . 0.9 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . . . . . . . . . I.04 . . . . . . . . 1.004e-04 . . . 0 0.0001 0 0 . 0.0005 0 0 0 0.0001 0 0 0 0.0005 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000170727 BOP1 BOP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs781817530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0003 0.0006 0 0 0.0004 0.0005 0 0 0.0002 0.0012 0 0 0 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781817530 8 145514935 C T - HSF1 5224 Heat shock transcription factor 1 NM_005526.2 1 2152 1590 NP_005517.1 Q00613 substitution upstream GRCh37 145514935 145514935 Chr8(GRCh37):g.145514935C>T -505 -505 NM_005526.2:c.-505C>T p.? p.? 1 140580 -622 5' 81.7046 9.35132 0.98 13.9207 81.7046 9.35132 0.98 13.9207 0 Cryptic Acceptor Strongly Activated 145514950 4.19678 0.117244 69.4682 4.81281 0.143366 69.4682 rs781817530 yes no Frequency 1 C 0.000000 0 0.000225 0.000000 0.000312 0.000604 0.000000 0.000000 0.000313 0.000000 0.000671 0.000604 23 0 4 4 0 0 13 0 2 102268 9544 12802 6628 3188 15738 41536 9852 2980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 0 4 4 0 0 13 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.016 0.125 255 PASS . . . . . . . . . . . . . . . . 0.9 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . . . . . . . . . I.04 . . . . . . . . 1.004e-04 . . . 0 0.0001 0 0 . 0.0005 0 0 0 0.0001 0 0 0 0.0005 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000170727 BOP1 BOP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs781817530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0003 0.0006 0 0 0.0004 0.0005 0 0 0.0002 0.0012 0 0 0 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200026961 8 145579931 C G - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579931 145579931 Chr8(GRCh37):g.145579931C>G 1225+29 1225+29 NM_012162.3:c.1225+29G>C p.? p.? 7 7 609076 29 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 5.66896 0 rs200026961 yes no Frequency 1 G 0.000000 0 0.002385 0.002352 0.001347 0.000000 0.002062 0.000820 0.002173 0.007190 0.001079 0.007190 180 19 8 0 4 4 91 52 2 75458 8078 5938 3652 1940 4880 41884 7232 1854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 180 19 8 0 4 4 91 52 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 0.851 236 PASS . . . . . . . . . . . . . . . . 0.26119402 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.7354 . . . . . . . . 3.859e-03 . . . 0.0203 0.0126 0.0054 0.0131 0.0045 0.0137 0.0103 0.0048 0.0228 0.0101 0.0050 0.0118 0.0047 0.0096 0.0167 0.0048 . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.3 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.45 0.0037 0.0027 0.0014 0 0.0023 0.0084 0.0024 0.0013 0.0008 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs200026961 rs200026961 1 1538 10 1/0 0,228,255 +rs200026961 8 145579931 C G - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579931 145579931 Chr8(GRCh37):g.145579931C>G -1504 -1504 NM_001252402.2:c.-1504G>C p.? p.? 1 -1655 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 rs200026961 yes no Frequency 1 G 0.000000 0 0.002385 0.002352 0.001347 0.000000 0.002062 0.000820 0.002173 0.007190 0.001079 0.007190 180 19 8 0 4 4 91 52 2 75458 8078 5938 3652 1940 4880 41884 7232 1854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 180 19 8 0 4 4 91 52 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 0.851 236 PASS . . . . . . . . . . . . . . . . 0.26119402 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.7354 . . . . . . . . 3.859e-03 . . . 0.0203 0.0126 0.0054 0.0131 0.0045 0.0137 0.0103 0.0048 0.0228 0.0101 0.0050 0.0118 0.0047 0.0096 0.0167 0.0048 . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.3 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.45 0.0037 0.0027 0.0014 0 0.0023 0.0084 0.0024 0.0013 0.0008 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs200026961 rs200026961 1 1538 10 1/0 0,228,255 +rs200985955 8 145579932 C T - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579932 145579932 Chr8(GRCh37):g.145579932C>T 1225+28 1225+28 NM_012162.3:c.1225+28G>A p.? p.? 7 7 609076 28 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 6.1134 0 Cryptic Donor Strongly Activated 145579931 8.48112 0.209541 81.6581 10.0684 0.774766 90.6189 rs200985955 yes no Frequency 1 T 0.000000 0 0.002587 0.002360 0.001346 0.000000 0.002554 0.001434 0.002249 0.008299 0.001081 0.008299 195 19 8 0 5 7 94 60 2 75370 8052 5944 3662 1958 4882 41792 7230 1850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 195 19 8 0 5 7 94 60 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.167 226 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.3061 . . . . . . . . 3.876e-03 . . . 0.0205 0.0127 0.0055 0.0162 0.0045 0.0137 0.0104 0.0048 0.0230 0.0102 0.0051 0.0130 0.0047 0.0097 0.0169 0.0049 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.33 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0029 0.0014 0 0.0028 0.0097 0.0025 0.0013 0.0014 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . rs200985955 rs200985955 1 1538 10 1/0 0,227,255 +rs200985955 8 145579932 C T - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579932 145579932 Chr8(GRCh37):g.145579932C>T -1505 -1505 NM_001252402.2:c.-1505G>A p.? p.? 1 -1656 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 Cryptic Donor Strongly Activated 145579931 8.48112 0.209541 81.6581 10.0684 0.774766 90.6189 rs200985955 yes no Frequency 1 T 0.000000 0 0.002587 0.002360 0.001346 0.000000 0.002554 0.001434 0.002249 0.008299 0.001081 0.008299 195 19 8 0 5 7 94 60 2 75370 8052 5944 3662 1958 4882 41792 7230 1850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 195 19 8 0 5 7 94 60 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.167 226 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.3061 . . . . . . . . 3.876e-03 . . . 0.0205 0.0127 0.0055 0.0162 0.0045 0.0137 0.0104 0.0048 0.0230 0.0102 0.0051 0.0130 0.0047 0.0097 0.0169 0.0049 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.33 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0029 0.0014 0 0.0028 0.0097 0.0025 0.0013 0.0014 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . rs200985955 rs200985955 1 1538 10 1/0 0,227,255 +rs112211890 8 145579936 C T - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579936 145579936 Chr8(GRCh37):g.145579936C>T 1225+24 1225+24 NM_012162.3:c.1225+24G>A p.? p.? 7 7 609076 24 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 6.0411 0 New Acceptor Site 145579934 0.84139 0.002025 69.3388 rs112211890 yes no Frequency 1 T 0.000000 0 0.002758 0.002498 0.001518 0.000274 0.003074 0.001441 0.002426 0.008491 0.001082 0.008491 207 20 9 1 6 7 101 61 2 75064 8008 5928 3650 1952 4858 41636 7184 1848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 207 20 9 1 6 7 101 61 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.198 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.3929 . . . . . . . . 4.042e-03 . . . 0.0207 0.0127 0.0055 0.0146 0.0046 0.0137 0.0106 0.0049 0.0232 0.0102 0.0051 0.0131 0.0047 0.0096 0.0170 0.0049 . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.34 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.217 0.225 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0031 0.0016 0.0003 0.0033 0.0100 0.0027 0.0013 0.0014 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.22 . . rs112211890 rs112211890 1 1538 10 1/0 0,230,255 +rs112211890 8 145579936 C T - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579936 145579936 Chr8(GRCh37):g.145579936C>T -1509 -1509 NM_001252402.2:c.-1509G>A p.? p.? 1 -1660 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 New Acceptor Site 145579934 0.84139 0.002025 69.3388 rs112211890 yes no Frequency 1 T 0.000000 0 0.002758 0.002498 0.001518 0.000274 0.003074 0.001441 0.002426 0.008491 0.001082 0.008491 207 20 9 1 6 7 101 61 2 75064 8008 5928 3650 1952 4858 41636 7184 1848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 207 20 9 1 6 7 101 61 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.198 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.3929 . . . . . . . . 4.042e-03 . . . 0.0207 0.0127 0.0055 0.0146 0.0046 0.0137 0.0106 0.0049 0.0232 0.0102 0.0051 0.0131 0.0047 0.0096 0.0170 0.0049 . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.34 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.217 0.225 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0031 0.0016 0.0003 0.0033 0.0100 0.0027 0.0013 0.0014 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.22 . . rs112211890 rs112211890 1 1538 10 1/0 0,230,255 +rs4993864 8 145579943 C A - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579943 145579943 Chr8(GRCh37):g.145579943C>A 1225+17 1225+17 NM_012162.3:c.1225+17G>T p.? p.? 7 7 609076 17 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 6.02786 0 rs4993864 yes no Frequency/1000G 2 A 0.000000 0 0.381390 0.327500 0.433500 0.453400 0.330000 0.380400 0.003393 0.002999 0.001689 0.000274 0.003605 0.001644 0.002523 0.012989 0.002697 0.012989 255 24 10 1 7 8 105 95 5 75158 8002 5920 3650 1942 4866 41610 7314 1854 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000273 0.000000 1 0 0 0 0 0 0 1 0 253 24 10 1 7 8 105 93 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 0.770 242 PASS . . . . . 0.33 0.38 0.38 0.45 0.33 0.43 . . . . . 0.28099173 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . 0.5324 . . . . . . . . 4.357e-03 . . . 0.0216 0.0132 0.0066 0.0163 0.0045 0.0140 0.0158 0.0049 0.0246 0.0107 0.0063 0.0144 0.0047 0.0100 0.0170 0.0049 . . . . . . intronic intronic intronic . . . 0.3814 . . . 0.35 0.27 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.272 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0038 0.0017 0.0003 0.0039 0.0147 0.0028 0.0031 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . 0.27 rs4993864 rs4993864 rs4993864 rs4993864 1 1538 10 1/0 0,234,255 +rs4993864 8 145579943 C A - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579943 145579943 Chr8(GRCh37):g.145579943C>A -1516 -1516 NM_001252402.2:c.-1516G>T p.? p.? 1 -1667 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 rs4993864 yes no Frequency/1000G 2 A 0.000000 0 0.381390 0.327500 0.433500 0.453400 0.330000 0.380400 0.003393 0.002999 0.001689 0.000274 0.003605 0.001644 0.002523 0.012989 0.002697 0.012989 255 24 10 1 7 8 105 95 5 75158 8002 5920 3650 1942 4866 41610 7314 1854 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000273 0.000000 1 0 0 0 0 0 0 1 0 253 24 10 1 7 8 105 93 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 0.770 242 PASS . . . . . 0.33 0.38 0.38 0.45 0.33 0.43 . . . . . 0.28099173 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . 0.5324 . . . . . . . . 4.357e-03 . . . 0.0216 0.0132 0.0066 0.0163 0.0045 0.0140 0.0158 0.0049 0.0246 0.0107 0.0063 0.0144 0.0047 0.0100 0.0170 0.0049 . . . . . . intronic intronic intronic . . . 0.3814 . . . 0.35 0.27 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.272 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0038 0.0017 0.0003 0.0039 0.0147 0.0028 0.0031 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . 0.27 rs4993864 rs4993864 rs4993864 rs4993864 1 1538 10 1/0 0,234,255 +rs4993863 8 145579950 G A - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579950 145579950 Chr8(GRCh37):g.145579950G>A 1225+10 1225+10 NM_012162.3:c.1225+10C>T p.? p.? 7 7 609076 10 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 4.95345 0 rs4993863 yes no Frequency/1000G 2 A 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 0.003675 0.002196 0.001761 0.000232 0.004040 0.001628 0.002870 0.015541 0.002538 0.015541 292 23 11 1 8 8 121 115 5 79460 10474 6246 4312 1980 4914 42164 7400 1970 0.000076 0.000000 0.000320 0.000000 0.000000 0.000000 0.000047 0.000270 0.000000 3 0 1 0 0 0 1 1 0 286 23 9 1 8 8 119 113 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426570|COSM5426570 Large intestine|Haematopoietic and lymphoid tissue 0.002241|0.000283 2231|3530 transition C T C>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.3882353 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.2700 . . . . . . . . . . . . 0.0173 0.0119 0.0058 0.0146 0.0042 0.0130 0.0095 0.0046 0.0196 0.0096 0.0055 0.0123 0.0043 0.0093 0.0101 0.0046 . . . . . . intronic intronic intronic . . . 0.4482 . . . 0.32 0.3 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.304 0.319 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0042 0.0018 0.0002 0.0044 0.0177 0.0032 0.0029 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 rs4993863 rs4993863 rs4993863 rs4993863 1 1538 10 1/0 0,255,255 +rs4993863 8 145579950 G A - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579950 145579950 Chr8(GRCh37):g.145579950G>A -1523 -1523 NM_001252402.2:c.-1523C>T p.? p.? 1 -1674 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 rs4993863 yes no Frequency/1000G 2 A 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 0.003675 0.002196 0.001761 0.000232 0.004040 0.001628 0.002870 0.015541 0.002538 0.015541 292 23 11 1 8 8 121 115 5 79460 10474 6246 4312 1980 4914 42164 7400 1970 0.000076 0.000000 0.000320 0.000000 0.000000 0.000000 0.000047 0.000270 0.000000 3 0 1 0 0 0 1 1 0 286 23 9 1 8 8 119 113 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426570|COSM5426570 Large intestine|Haematopoietic and lymphoid tissue 0.002241|0.000283 2231|3530 transition C T C>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.3882353 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.2700 . . . . . . . . . . . . 0.0173 0.0119 0.0058 0.0146 0.0042 0.0130 0.0095 0.0046 0.0196 0.0096 0.0055 0.0123 0.0043 0.0093 0.0101 0.0046 . . . . . . intronic intronic intronic . . . 0.4482 . . . 0.32 0.3 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.304 0.319 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0042 0.0018 0.0002 0.0044 0.0177 0.0032 0.0029 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 rs4993863 rs4993863 rs4993863 rs4993863 1 1538 10 1/0 0,255,255 +rs4993862 8 145579953 T A - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579953 145579953 Chr8(GRCh37):g.145579953T>A 1225+7 1225+7 NM_012162.3:c.1225+7A>T p.? p.? 7 7 609076 7 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.02428 0 -0.217584 Cryptic Acceptor Strongly Activated 145579954 1.82257 6.1e-05 64.0786 4.12441 0.00055 64.0786 rs4993862 yes no Frequency/1000G 2 C 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 0.004043 0.003134 0.002040 0.000275 0.004158 0.001649 0.003025 0.016072 0.002691 0.016072 304 25 12 1 8 8 126 119 5 75184 7978 5882 3640 1924 4850 41648 7404 1858 0.000133 0.000000 0.000680 0.000000 0.000000 0.000000 0.000096 0.000270 0.000000 5 0 2 0 0 0 2 1 0 294 25 8 1 8 8 122 117 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426546|COSM5426546 Large intestine|Haematopoietic and lymphoid tissue 0.000896|0.000283 2231|3530 transversion A T A>T 0.000 -3.830 252 PASS . . . . . 0.32 0.37 0.37 0.45 0.32 0.42 . . . . . 0.37209302 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.5504 . . . . . . . . 6.557e-03 . . . 0.0146 0.0078 0.0032 0.0080 0.0033 0.0096 0.0063 0.0017 0.0173 0.0065 0.0030 0.0072 0.0034 0.0069 0.0068 0.0017 . . . . . . intronic intronic intronic . . . 0.3720 . . . 0.41 0.31 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.034 . . . . . . . 0.0050 0.0046 0.0021 0.0003 0.0045 0.0183 0.0034 0.0031 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs4993862 rs4993862 rs4993862 rs4993862 1 1538 10 1/0 0,255,255 +rs4993862 8 145579953 T A - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579953 145579953 Chr8(GRCh37):g.145579953T>A -1526 -1526 NM_001252402.2:c.-1526A>T p.? p.? 1 -1677 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 Cryptic Acceptor Strongly Activated 145579954 1.82257 6.1e-05 64.0786 4.12441 0.00055 64.0786 rs4993862 yes no Frequency/1000G 2 C 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 0.004043 0.003134 0.002040 0.000275 0.004158 0.001649 0.003025 0.016072 0.002691 0.016072 304 25 12 1 8 8 126 119 5 75184 7978 5882 3640 1924 4850 41648 7404 1858 0.000133 0.000000 0.000680 0.000000 0.000000 0.000000 0.000096 0.000270 0.000000 5 0 2 0 0 0 2 1 0 294 25 8 1 8 8 122 117 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426546|COSM5426546 Large intestine|Haematopoietic and lymphoid tissue 0.000896|0.000283 2231|3530 transversion A T A>T 0.000 -3.830 252 PASS . . . . . 0.32 0.37 0.37 0.45 0.32 0.42 . . . . . 0.37209302 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.5504 . . . . . . . . 6.557e-03 . . . 0.0146 0.0078 0.0032 0.0080 0.0033 0.0096 0.0063 0.0017 0.0173 0.0065 0.0030 0.0072 0.0034 0.0069 0.0068 0.0017 . . . . . . intronic intronic intronic . . . 0.3720 . . . 0.41 0.31 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.034 . . . . . . . 0.0050 0.0046 0.0021 0.0003 0.0045 0.0183 0.0034 0.0031 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs4993862 rs4993862 rs4993862 rs4993862 1 1538 10 1/0 0,255,255 +rs4993861 8 145579954 G A - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579954 145579954 Chr8(GRCh37):g.145579954G>A 1225+6 1225+6 NM_012162.3:c.1225+6C>T p.? p.? 7 7 609076 6 5' 72.3235 1.32792 0.069921 6.30568 78.1021 3.99481 0.696804 8.79707 3.68461 Cryptic Donor Strongly Activated 145579960 1.32792 0.069921 72.3235 3.99481 0.696804 78.1021 rs4993861 yes no Frequency/1000G 2 A 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 COSM5426545|COSM5426545 Large intestine|Haematopoietic and lymphoid tissue 0.002241|0.000283 2231|3530 transition C T C>T 0.000 -0.844 255 PASS . . . . . 0.32 0.37 0.37 0.45 0.32 0.42 . . . . . 0.34146342 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . 0.3186 . . . . . . . . 5.751e-03 . . . 0.0125 0.0064 0.0025 0.0045 0.0027 0.0086 0.0090 0.0014 0.0150 0.0053 0.0023 0.0046 0.0028 0.0061 0.0075 0.0015 . . . . . . intronic intronic intronic . . . 0.3720 . . . 0.35 0.29 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4993861 rs4993861 rs4993861 rs4993861 1 1538 10 1/0 0,255,255 +rs4993861 8 145579954 G A - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579954 145579954 Chr8(GRCh37):g.145579954G>A -1527 -1527 NM_001252402.2:c.-1527C>T p.? p.? 1 -1678 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 Cryptic Donor Strongly Activated 145579960 1.32792 0.069921 72.3235 3.99481 0.696804 78.1021 rs4993861 yes no Frequency/1000G 2 A 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 COSM5426545|COSM5426545 Large intestine|Haematopoietic and lymphoid tissue 0.002241|0.000283 2231|3530 transition C T C>T 0.000 -0.844 255 PASS . . . . . 0.32 0.37 0.37 0.45 0.32 0.42 . . . . . 0.34146342 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . 0.3186 . . . . . . . . 5.751e-03 . . . 0.0125 0.0064 0.0025 0.0045 0.0027 0.0086 0.0090 0.0014 0.0150 0.0053 0.0023 0.0046 0.0028 0.0061 0.0075 0.0015 . . . . . . intronic intronic intronic . . . 0.3720 . . . 0.35 0.29 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4993861 rs4993861 rs4993861 rs4993861 1 1538 10 1/0 0,255,255 +rs375049839 8 145738238 G A - MFSD3 25157 Major facilitator superfamily domain containing 3 NM_138431.2 1 1601 1239 NP_612440.1 Q96ES6 substitution downstream GRCh37 145738238 145738238 Chr8(GRCh37):g.145738238G>A *1691 *1691 NM_138431.2:c.*1691G>A p.? p.? 5 1865 3' 76.9732 7.92308 0.951645 9.95167 76.9732 7.92308 0.951645 9.95167 0 New Acceptor Site 145738240 5.87626 0.302258 79.2864 rs375049839 yes no Frequency 1 G uncertain_significance 0.000000 0 0.000262 0.000000 0.000275 0.000937 0.000000 0.000000 0.000408 0.000000 0.000326 0.000937 68 0 9 9 0 0 48 0 2 259656 22228 32698 9604 17948 28998 117584 24460 6136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 0 9 9 0 0 48 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8454 4172 12626 2 0 2 0.000236518 0 0.000158378 0.000236518 0 0.000158378 21 RCV000465330.1 germline clinical testing VUS 1 Baller-Gerold syndrome transition G A G>A 0.630 0.770 255 PASS . . . . . . . . . . . ENSG00000160957:ENST00000428558:exon16:c.C2747T:p.P916L RECQL4:uc003zdj.3:exon16:c.C2747T:p.P916L RECQL4:NM_004260:exon16:c.C2747T:p.P916L . . 0.42173913 . . @ 97 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.600 . @ . . . . . 1 0.157 . . 230.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 2.0402 4.050 2.040 n . . . . . 3.003e-04 . . . 0 0.0005 0.0004 0 0 0.0010 0 0 0 0.0005 0.0004 0 0 0.0008 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.221 @ . . . 0.44 0.06 182 ENSG00000160957 RECQL4 RECQL4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.559 0.035 . . 37 . . . . . . . . 0.778 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.430 . . 0.359 . . . . . . 2 . . . . . . 0.072 . 0.388 . HET 0.15 rs375049839 . . . . . . . . . . . . . . . . . . . . . . . 0.000158 . 0.435 . . . 0 0.0003 0.0003 0.0010 0 0 0.0004 0.0002 0 0 0.0002 0.0012 0 0 0 0.0002 0.0010 . . 0.036 . . . . . . . . 1.0E-255 0.004 0.165 . 0.301 0.015 . 0.353 . 0.551 . -0.469 0.0002 . . rs375049839 rs375049839 1 1538 10 1/0 0,218,247 +rs375049839 8 145738238 G A - RECQL4 9949 RecQ like helicase 4 ENST00000428558.2 -1 3816 3627 NP_004251.3 substitution missense exon GRCh37 145738238 145738238 Chr8(GRCh37):g.145738238G>A 2747 2747 ENST00000428558.2:c.2747C>T p.Pro916Leu p.Pro916Leu 16 603780 -9 5' 81.3514 7.13226 0.632945 4.84169 81.3514 7.13226 0.632945 4.25756 0 rs375049839 yes no Frequency 1 G uncertain_significance 0.000000 0 0.000262 0.000000 0.000275 0.000937 0.000000 0.000000 0.000408 0.000000 0.000326 0.000937 68 0 9 9 0 0 48 0 2 259656 22228 32698 9604 17948 28998 117584 24460 6136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 0 9 9 0 0 48 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8454 4172 12626 2 0 2 0.000236518 0 0.000158378 0.000236518 0 0.000158378 21 RCV000465330.1 germline clinical testing VUS 1 Baller-Gerold syndrome transition C T C>T 0.630 0.770 P Pro CCG 0.115 L Leu CTG 0.404 916 12 5 Fruitfly -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 113.69 55.05 Tolerated 0.19 II.69 255 PASS . . . . . . . . . . . ENSG00000160957:ENST00000428558:exon16:c.C2747T:p.P916L RECQL4:uc003zdj.3:exon16:c.C2747T:p.P916L RECQL4:NM_004260:exon16:c.C2747T:p.P916L . . 0.42173913 . . @ 97 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.600 . @ . . . . . 1 0.157 . . 230.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 2.0402 4.050 2.040 n . . . . . 3.003e-04 . . . 0 0.0005 0.0004 0 0 0.0010 0 0 0 0.0005 0.0004 0 0 0.0008 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.221 @ . . . 0.44 0.06 182 ENSG00000160957 RECQL4 RECQL4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.559 0.035 . . 37 . . . . . . . . 0.778 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.430 . . 0.359 . . . . . . 2 . . . . . . 0.072 . 0.388 . HET 0.15 rs375049839 . . . . . . . . . . . . . . . . . . . . . . . 0.000158 . 0.435 . . . 0 0.0003 0.0003 0.0010 0 0 0.0004 0.0002 0 0 0.0002 0.0012 0 0 0 0.0002 0.0010 . . 0.036 . . . . . . . . 1.0E-255 0.004 0.165 . 0.301 0.015 . 0.353 . 0.551 . -0.469 0.0002 . . rs375049839 rs375049839 1 1538 10 1/0 0,218,247 +. 9 12234 C A - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution exon GRCh37 12234 12234 Chr9(GRCh37):g.12234C>A 248 248 NR_051986.1:n.248C>A 1 -107 5' 78.9497 9.09184 0.971166 4.41927 78.9497 9.09184 0.971166 4.41927 0 0.004162 0.007940 0.000000 0.018072 0.000707 0.000000 0.003311 0.002756 0.005155 0.018072 76 32 0 3 1 0 32 5 3 18260 4030 590 166 1414 0 9664 1814 582 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 32 0 3 1 0 32 5 3 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion C A C>A 0.000 -1.651 201 PASS . . . . . . . . . . . . . . . . 0.16176471 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 68.0 . . . . . . . . . . -0.7590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.42 0.29 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0042 0 0.0181 0.0007 0.0028 0.0033 0.0052 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . rs7357887 rs7357887 rs7357887 rs7357887 1 1538 10 1/0 0,248,255 +. 9 13383 T C - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution exon GRCh37 13383 13383 Chr9(GRCh37):g.13383T>C 513 513 NR_051986.1:n.513T>C 3 50 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25024 6284 758 190 1544 0 12044 3384 820 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition T C T>C 1.000 0.205 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . 0.1532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.41 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs74713238 rs74713238 1 1538 10 1.I 0,0,0 +. 9 13383 T C - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution downstream GRCh37 13383 13383 Chr9(GRCh37):g.13383T>C *1424 *1424 NM_182905.4:c.*1424A>G p.? p.? 11 613632 1558 3' 93.5871 8.33551 0.970926 8.67739 93.5871 8.33551 0.970926 8.67739 0 New Acceptor Site 13382 2.69444 0.001894 61.3582 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25024 6284 758 190 1544 0 12044 3384 820 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition A G A>G 1.000 0.205 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . 0.1532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.41 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs74713238 rs74713238 1 1538 10 1.I 0,0,0 +. 9 13384 T C - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution exon GRCh37 13384 13384 Chr9(GRCh37):g.13384T>C 514 514 NR_051986.1:n.514T>C 3 51 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 Cryptic Acceptor Weakly Activated 13387 0.001943 65.402 0.162297 0.001205 71.5787 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24930 6258 754 184 1530 0 12004 3378 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition T C T>C 1.000 0.690 183 PASS . . . . . . . . . . . . . . . . 0.120300755 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 133.0 . . . . . . . . . . 0.1940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.45 0.37 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs78041349 rs78041349 1 1538 10 1.I 0,0,0 +. 9 13384 T C - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution downstream GRCh37 13384 13384 Chr9(GRCh37):g.13384T>C *1423 *1423 NM_182905.4:c.*1423A>G p.? p.? 11 613632 1557 3' 93.5871 8.33551 0.970926 8.67739 93.5871 8.33551 0.970926 8.67739 0 Cryptic Acceptor Weakly Activated 13377 5.31963 0.025102 80.8282 5.61968 0.039938 80.5755 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24930 6258 754 184 1530 0 12004 3378 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition A G A>G 1.000 0.690 183 PASS . . . . . . . . . . . . . . . . 0.120300755 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 133.0 . . . . . . . . . . 0.1940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.45 0.37 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs78041349 rs78041349 1 1538 10 1.I 0,0,0 +. 9 13415 A T - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution exon GRCh37 13415 13415 Chr9(GRCh37):g.13415A>T 545 545 NR_051986.1:n.545A>T 3 82 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 0.004451 0.009192 0.000000 0.007246 0.003776 0.000000 0.003483 0.001647 0.006431 0.009192 85 38 0 1 5 0 32 5 4 19096 4134 654 138 1324 0 9188 3036 622 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 38 0 1 5 0 32 5 4 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A T A>T 0.992 2.304 211 PASS . . . . . . . . . . . . . . . . 0.18666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . 0.4805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.3 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0092 0.0045 0 0.0072 0.0038 0.0016 0.0035 0.0064 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . rs71249500 rs28532600 rs28532600 1 1538 10 1/0 0,217,255 +. 9 13415 A T - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution downstream GRCh37 13415 13415 Chr9(GRCh37):g.13415A>T *1392 *1392 NM_182905.4:c.*1392T>A p.? p.? 11 613632 1526 3' 93.5871 8.33551 0.970926 8.67739 93.5871 8.33551 0.970926 8.67739 0 0.004451 0.009192 0.000000 0.007246 0.003776 0.000000 0.003483 0.001647 0.006431 0.009192 85 38 0 1 5 0 32 5 4 19096 4134 654 138 1324 0 9188 3036 622 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 38 0 1 5 0 32 5 4 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion T A T>A 0.992 2.304 211 PASS . . . . . . . . . . . . . . . . 0.18666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . 0.4805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.3 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0092 0.0045 0 0.0072 0.0038 0.0016 0.0035 0.0064 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . rs71249500 rs28532600 rs28532600 1 1538 10 1/0 0,217,255 +rs371198505 9 15066 G A - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution downstream GRCh37 15066 15066 Chr9(GRCh37):g.15066G>A *541 *541 NR_051986.1:n.*541G>A p.? p.? 3 1733 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 rs371198505 yes no Frequency 1 0.000000 0 0.000259 0.000212 0.000562 0.000000 0.000000 0.000249 0.000193 0.000295 0.000665 0.000562 28 2 10 0 0 3 8 3 2 107908 9454 17782 3734 10168 12058 41536 10170 3006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 2 10 0 0 3 8 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.005 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.4640 . . . . . . . . 1.642e-04 . . . 0 0.0016 0 0 . 0.0024 0 0.0011 0 0.0008 0 0 . 0 0 0.0011 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.33 0.2 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs371198505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0 0.0001 0.0002 0.0008 0.0002 0.0005 0.0005 0.0065 0 0 0.0007 0.0003 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs74646406 rs371198505 1 1538 10 1/0 0,219,255 +rs371198505 9 15066 G A - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 15066 15066 Chr9(GRCh37):g.15066G>A 1264+15 1264+15 NM_182905.4:c.1264+15C>T p.? p.? 10 10 613632 15 5' 75.323 6.45258 0.814298 6.42202 75.323 6.45258 0.814298 6.20067 0 rs371198505 yes no Frequency 1 0.000000 0 0.000259 0.000212 0.000562 0.000000 0.000000 0.000249 0.000193 0.000295 0.000665 0.000562 28 2 10 0 0 3 8 3 2 107908 9454 17782 3734 10168 12058 41536 10170 3006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 2 10 0 0 3 8 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.005 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.4640 . . . . . . . . 1.642e-04 . . . 0 0.0016 0 0 . 0.0024 0 0.0011 0 0.0008 0 0 . 0 0 0.0011 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.33 0.2 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs371198505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0 0.0001 0.0002 0.0008 0.0002 0.0005 0.0005 0.0065 0 0 0.0007 0.0003 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs74646406 rs371198505 1 1538 10 1/0 0,219,255 +. 9 18074 TG T - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 deletion frameshift exon GRCh37 18075 18075 Chr9(GRCh37):g.18075del 361 361 NM_182905.4:c.361del p.His121Thrfs*19 p.His121Thrfs*19 4 613632 -48 5' 74.1653 5.60529 0.303846 5.65534 74.1653 5.60529 0.303846 V.16 0 0.001506 0.000000 0.000000 0.000000 0.000000 0.003731 0.000000 0.000000 0.000000 0.003731 1 0 0 0 0 1 0 0 0 664 2 278 2 20 268 56 2 36 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes C 255 Pass . . . . . . . . . . . . . WASH1:NM_182905:exon4:c.361delC:p.H121fs . . 0.30769232 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 52 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0015 0 0 0 0 0 0 0.0037 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71286110 rs71286110 rs71286110 1 1538 10 1.I 0,10,51 +. 9 19117 A G - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 19117 19117 Chr9(GRCh37):g.19117A>G 150-625 150-625 NM_182905.4:c.150-625T>C p.? p.? 3 2 613632 -625 3' 87.2919 8.66579 0.860904 3.32391 87.2919 8.66579 0.860904 3.32391 0 0.000579 0.000000 0.000000 0.000000 0.000000 0.000000 0.000924 0.000000 0.000000 0.000924 1 0 0 0 0 0 1 0 0 1726 82 76 22 48 0 1082 336 80 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 84 Genomes transition T C T>C 0.102 0.770 255 PASS . . . . . . . . . . . . WASH1:uc003zfu.1:exon1:c.T97C:p.C33R . . . 0.38235295 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.1708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . 0.59 0.17 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11266755 rs11266755 rs11266755 rs11266755 1 1538 10 1/0 0,255,255 +. 9 24382 C T - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 24382 24382 Chr9(GRCh37):g.24382C>T 149+469 149+469 NM_182905.4:c.149+469G>A p.? p.? 2 2 613632 469 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transition G A G>A 0.000 -0.924 197 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||WASH1|mRNA|CODING|NM_182905|) . . . . . . . -0.2931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.28 0.24 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs62028234 rs62028234 rs62028234 rs62028234 1 1538 10 1/0 0,255,255 +. 9 24393 C T - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 24393 24393 Chr9(GRCh37):g.24393C>T 149+458 149+458 NM_182905.4:c.149+458G>A p.? p.? 2 2 613632 458 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 Cryptic Acceptor Strongly Activated 24382 2.4e-05 0.896121 1.3e-05 61.3977 transition G A G>A 0.000 -1.489 211 PASS . . . . . . . . . . . . . . . . 0.1904762 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||WASH1|mRNA|CODING|NM_182905|) . . . . . . . -0.6217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.3 0.24 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs4492552 rs4492552 rs4492552 rs4492552 1 1538 10 1/0 0,255,255 +. 9 24600 T C - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 24600 24600 Chr9(GRCh37):g.24600T>C 149+251 149+251 NM_182905.4:c.149+251A>G p.? p.? 2 2 613632 251 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transition A G A>G 0.000 -1.732 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||WASH1|mRNA|CODING|NM_182905|) . . . . . . . -0.7071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.35 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs8179841 rs8179841 rs8179841 rs8179841 1 1538 10 1/0 0,255,255 +. 9 24624 C G - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 24624 24624 Chr9(GRCh37):g.24624C>G 149+227 149+227 NM_182905.4:c.149+227G>C p.? p.? 2 2 613632 227 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transversion G C G>C 0.000 -0.198 188 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||WASH1|mRNA|CODING|NM_182905|) . . . . . . . -0.3432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.32 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs4546868 rs4546868 rs4546868 rs4546868 1 1538 10 1/0 0,255,255 +. 9 24899 G A - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution missense exon GRCh37 24899 24899 Chr9(GRCh37):g.24899G>A 101 101 NM_182905.4:c.101C>T p.Ala34Val p.Ala34Val 2 613632 -49 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 6.90847 0 Cryptic Acceptor Strongly Activated 24885 0.762218 0.00392 72.2788 1.26595 0.005379 75.0517 transition C T C>T 0.992 2.546 A Ala GCG 0.107 V Val GTG 0.468 34 12 8 Fruitfly 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.07 III.45 bad 3.921E-4 0.002304 253 PASS . . . . . . . . . . . . WASH1:uc010mgm.1:exon2:c.C101T:p.A34V WASH1:NM_182905:exon2:c.C101T:p.A34V . . 0.33333334 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.287 . @ . . . . . 1 0.383 . . 15.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A34V|WASH1|mRNA|CODING|NM_182905|NM_182905.ex.2) . . . . . . . 0.9467 0.014 0.947 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.205 @ . . . 0.62 0.46 182 ENSG00000181404 WASH1 WASH1 . . . 0.000 0.054 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.556 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.505 . . 0.360 . . . . . . 0 . . . . . . 0.186 . 0.336 . HET 0.1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.460 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-253 1.000 0.715 . 0.574 0.997 . 0.728 . 0.280 . 0.697 . rs11266852 rs11266852 rs11266852 rs11266852 1 1538 10 1/0 0,0,0 +rs201303152 9 117367 G C - FOXD4 3805 Forkhead box D4 NM_207305.4 -1 2187 1320 NP_997188.2 Q12950 substitution synonymous exon GRCh37 117367 117367 Chr9(GRCh37):g.117367G>C 753 753 NM_207305.4:c.753C>G p.Pro251= p.Pro251Pro 1 601092 rs201303152 yes no Frequency/1000G 2 0.000000 0 0.167732 0.279900 0.133900 0.053600 0.151100 0.191600 0.000143 0.000096 0.000049 0.000000 0.000125 0.000823 0.000027 0.000000 0.000000 0.000823 23 1 1 0 2 17 2 0 0 161306 10460 20250 6792 16006 20666 72882 10468 3782 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 1 0 2 17 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4163267|COSM4163267 Thyroid|Large intestine 0.001339|0.000448 747|2231 transversion C G C>G 0.016 -0.763 P Pro CCC 0.328 P Pro CCG 0.115 251 238 PASS . . . . . 0.28 0.17 0.19 0.054 0.15 0.13 ENSG00000170122:ENST00000382500:exon1:c.C753G:p.P251P FOXD4:uc003zfz.4:exon1:c.C753G:p.P251P FOXD4:NM_207305:exon1:c.C753G:p.P251P . . 0.27586207 . . @ 8 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.3458 . . . . . . . . 1.181e-04 . . . 0 0.0003 0 0.0002 0 4.729e-05 0 0.0010 0 0.0002 0 0 0 3.294e-05 0 0.0010 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1677 . . . 0.21 0.33 182 ENSG00000170122 FOXD4 FOXD4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs201303152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 5.048e-05 0 0.0001 0 3.114e-05 0 0.0008 0.0002 5.718e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . rs201303152 rs201303152 1 1538 10 1/0 0,255,255 +rs199938577 9 117372 C G - FOXD4 3805 Forkhead box D4 NM_207305.4 -1 2187 1320 NP_997188.2 Q12950 substitution missense exon GRCh37 117372 117372 Chr9(GRCh37):g.117372C>G 748 748 NM_207305.4:c.748G>C p.Gly250Arg p.Gly250Arg 1 601092 rs199938577 yes no Frequency/1000G 2 0.000000 0 0.180112 0.301100 0.144200 0.057500 0.170000 0.193100 0.000044 0.000247 0.000000 0.000000 0.000000 0.000045 0.000055 0.000000 0.000000 0.000247 7 2 0 0 0 1 4 0 0 158446 8092 21364 6936 14782 22096 72780 8850 3546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 0 1 4 0 0 0 0 0 0 0 0 0 0 0 PASS 230 Exomes COSM3735322|COSM3735322|COSM3735322|COSM3735322 Urinary tract|Upper aerodigestive tract|Skin|Large intestine 0.001488|0.005627|0.000812|0.000448 672|1244|1232|2231 transversion G C G>C 0.000 0.044 G Gly GGC 0.342 R Arg CGC 0.190 250 6 2 Platypus -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C15 79.36 68.29 Tolerated 0.17 III.52 255 PASS . . . . . 0.3 0.18 0.19 0.058 0.17 0.14 ENSG00000170122:ENST00000382500:exon1:c.G748C:p.G250R FOXD4:uc003zfz.4:exon1:c.G748C:p.G250R FOXD4:NM_207305:exon1:c.G748C:p.G250R . . 0.33333334 . . @ 9 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.262 . @ . . . . . 1 0.163 . . 27.0 . . . . . . . . . . -1.2423 -1.326 -1.242 c . . . . . 7.827e-05 . . . 0.0003 8.184e-05 0 0 0 9.385e-05 0 9.266e-05 0.0003 8.168e-05 0 0 0 9.831e-05 0 9.323e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.947 . . exonic exonic exonic . . 0.110 0.1801 . . . 0.22 0.3 182 ENSG00000170122 FOXD4 FOXD4 . . . 0.010 0.120 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.835 . . 0.725 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.221 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 3 0.574 . . . . . 0.098 . 0.097 . HET 0.01 rs199938577 . . . . . . . . . . . . 4.179 . ENST00000382500 I.63 -0.612 . 0.030000 Q12950 . . . . . 0.070 . . . 0.0002 4.418e-05 0 0 0 0 5.496e-05 0 4.526e-05 . . . . . . . . . . 0.340 . -0.162 -0.162000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.074 0.001 . 0.128 . 0.105 -0.162 -0.212 . . . rs199938577 rs199938577 1 1538 10 1/0 0,255,255 +rs879988314 9 134956 G A - CBWD1 17134 COBW domain containing 1 NM_018491.3 -1 1723 1188 NP_060961.3 Q9BRT8 substitution intron GRCh37 134956 134956 Chr9(GRCh37):g.134956G>A 816+23 816+23 NM_018491.3:c.816+23C>T p.? p.? 11 11 611078 23 5' 82.8297 9.65432 0.964438 2.83202 82.8297 9.65432 0.964438 2.63964 0 transition C T C>T 0.000 -0.440 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.36 0.11 182 ENSG00000172785 CBWD1 CBWD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs1757270 rs1757270 rs1757270 rs1757270 1 1538 10 1/0 0,255,255 +. 9 169539 G A - CBWD1 17134 COBW domain containing 1 NM_018491.3 -1 1723 1188 NP_060961.3 Q9BRT8 substitution intron GRCh37 169539 169539 Chr9(GRCh37):g.169539G>A 430+2542 430+2542 NM_018491.3:c.430+2542C>T p.? p.? 4 4 611078 2542 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 transition C T C>T 0.012 0.367 209 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.2931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.22 182 ENSG00000172785 CBWD1 CBWD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs1756507 rs1756507 rs1756507 rs1756507 1 1538 10 1/0 0,255,255 +rs12380 9 172167 C T - CBWD1 17134 COBW domain containing 1 NM_018491.3 -1 1723 1188 NP_060961.3 Q9BRT8 substitution missense exon GRCh37 172167 172167 Chr9(GRCh37):g.172167C>T 344 344 NM_018491.3:c.344G>A p.Ser115Asn p.Ser115Asn 4 611078 6 3' 90.0895 9.11737 0.94621 2.60796 90.0895 9.11737 0.934979 2.77687 -0.00395649 Cobalamin (vitamin B12) biosynthesis CobW-like rs12380 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 0.000065 2 0 0 0 0 2 0 0 0 276262 23848 34392 10148 18842 30756 126176 25666 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM221745|COSM221745|COSM221745|COSM221745 Upper aerodigestive tract|Skin|Liver|Large intestine 0.003215|0.002435|0.000844|0.000448 1244|1232|2371|2231 transition G A G>A 1.000 0.205 S Ser AGT 0.149 N Asn AAT 0.464 115 11 2 Mouse 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 256.55 0.00 Tolerated 1 III.44 good 9.944E-1 0.5149 199 PASS . . . . . . . . . . . . . . . . 0.15789473 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.021 . . 57.0 . . . . . . . . . . -1.3148 -1.221 -1.315 c . . . . . 1.579e-05 . . . 0 1.104e-05 0 0 0 2.376e-05 0 0 0 9.431e-06 0 0 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.421 . . exonic exonic exonic . . 0.049 @ . . . 0.49 0.37 182 ENSG00000172785 CBWD1 CBWD1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.124 0.005 . . 37 . 0.159 . . 0.136 . . . 0.042 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.040 . . . . . 0.438 . 0.075 . HET 1 rs12380 . . . . . . ID\x3dCOSM221745\x3bOCCURENCE\x3d1(skin) . . . . . X.83 . . III.71 -3.12 . 0.370000 . . . . . . 0.162 . . . 0 8.138e-06 0 0 0 0 0 0 6.503e-05 0 0 0 0 0 0 0 0 . . 0.609 . -1.411 -1.411000 . . 0.370000 . . 1.0E-199 0.998 0.411 . 0.587 0.995 . 0.193 . 0.065 -1.411 -0.872 . rs12380 rs12380 rs12380 rs12380 1 1538 10 1/0 0,255,255 +. 9 449777 T C - DOCK8 19191 Dedicator of cytokinesis 8 NM_203447.3 1 7452 6300 NP_982272.2 Q8NF50 substitution intron GRCh37 449777 449777 Chr9(GRCh37):g.449777T>C 5818-7 5818-7 NM_203447.3:c.5818-7T>C p.? p.? 45 44 611432 -7 3' 77.8667 6.82129 0.045651 4.16841 76.3561 6.71895 0.029626 3.43234 -0.128478 transition T C T>C 0.039 0.125 255 PASS . . . . . . . . . . . . . . . . 0.9166667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . 0.6003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000107099 DOCK8 DOCK8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs190807634 9 2081739 A G - SMARCA2 11098 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 NM_001289396.1 1 5867 4773 NP_001276325.1 P51531 substitution intron GRCh37 2081739 2081739 Chr9(GRCh37):g.2081739A>G 2185-93 2185-93 NM_001289396.1:c.2185-93A>G p.? p.? 15 14 600014 -93 3' 84.9135 6.31691 0.893207 2.32535 84.9135 6.31691 0.893207 2.32535 0 2081739 -65.5428 rs190807634 yes no Frequency/1000G 2 A 0.000000 0 0.004193 0.000800 0.004100 0.000000 0.008900 0.010100 0.008366 0.001836 0.011933 0.000000 0.000000 0.000000 0.012460 0.010315 0.010183 0.012460 259 16 10 0 0 0 187 36 10 30958 8716 838 302 1622 0 15008 3490 982 0.011583 0.000000 0.000000 0.000000 0.000000 0.000000 0.016043 0.000000 0.000000 3 0 0 0 0 0 3 0 0 253 16 10 0 0 0 181 36 10 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.039 -0.117 255 PASS 0.002 0.01 0.02 . 0.01 0.0008 0.0042 0.01 . 0.0089 0.0041 . . . . . 0.5185185 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.6011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.52 0.34 182 ENSG00000080503 SMARCA2 SMARCA2 . . . . . . 787 0.0121122 64976 767 0.0127863 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190807634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0084 0.0119 0 0 0.0103 0.0125 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs190807634 rs190807634 1 1538 10 1/0 0,255,255 +. 9 4713158 TC T - AK3 17376 Adenylate kinase 3 NM_016282.3 -1 4326 684 NP_057366.2 Q9UIJ7 deletion intron GRCh37 4713159 4713159 Chr9(GRCh37):g.4713159del 564-63 564-63 NM_016282.3:c.564-63del p.? p.? 5 4 609290 -63 3' 88.3197 XI.87 0.978825 8.76268 88.3197 XI.87 0.978825 8.77856 0 4713158 -12.4866 rs374481496 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.002000 0.003000 0.002900 0.002714 0.001604 0.000000 0.000000 0.000000 0.000000 0.004467 0.000286 0.002045 0.004467 84 14 0 0 0 0 67 1 2 30956 8726 838 302 1620 0 14998 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 84 14 0 0 0 0 67 1 2 0 0 0 0 0 0 0 0 0 PASS 40 Genomes G 255 Pass . . . . . . 0.0014 0.0029 0.002 0.003 . . . . . . 0.41509435 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000147853 AK3 AK3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs374481496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0027 0 0 0 0.0003 0.0045 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374481496 rs374481496 1 1538 10 1.I 0,12,38 +rs376111896 9 4713160 A G - AK3 17376 Adenylate kinase 3 NM_016282.3 -1 4326 684 NP_057366.2 Q9UIJ7 substitution intron GRCh37 4713160 4713160 Chr9(GRCh37):g.4713160A>G 564-64 564-64 NM_016282.3:c.564-64T>C p.? p.? 5 4 609290 -64 3' 88.3197 XI.87 0.978825 8.76268 88.3197 XI.87 0.978825 8.40048 0 4713158 -24.7594 rs376111896 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.002000 0.003000 0.002900 0.002714 0.001604 0.000000 0.000000 0.000000 0.000000 0.004468 0.000286 0.002045 0.004468 84 14 0 0 0 0 67 1 2 30956 8730 838 302 1618 0 14996 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 84 14 0 0 0 0 67 1 2 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition T C T>C 0.000 0.286 255 PASS . . . . . . 0.0014 0.0029 0.002 0.003 . . . . . . 0.4 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.2906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . . . . ENSG00000147853 AK3 AK3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs376111896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0027 0 0 0 0.0003 0.0045 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs376111896 rs376111896 1 1538 10 1/0 0,255,255 +rs139239113 9 6604513 A T - GLDC 4313 Glycine dehydrogenase (decarboxylating) NM_000170.2 -1 3809 3063 NP_000161.2 P23378 substitution intron GRCh37 6604513 6604513 Chr9(GRCh37):g.6604513A>T 1058+75 1058+75 NM_000170.2:c.1058+75T>A p.? p.? 7 7 238300 75 5' 82.523 9.06409 0.934821 3.85116 82.523 9.06409 0.934821 3.79385 0 rs139239113 yes no Frequency/1000G 2 A 0.000000 0 0.002196 0.000800 0.000000 0.000000 0.009900 0.000000 0.004131 0.000687 0.001193 0.000000 0.000000 0.000000 0.006925 0.002862 0.007128 0.006925 128 6 1 0 0 0 104 10 7 30988 8734 838 302 1620 0 15018 3494 982 0.023438 0.000000 0.000000 0.000000 0.000000 0.000000 0.019231 0.000000 0.142857 3 0 0 0 0 0 2 0 1 122 6 1 0 0 0 100 10 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T A T>A 0.000 -0.440 255 PASS . 0.0041 . . 0.01 0.0008 0.0022 . . 0.0099 . . . . . . 0.5882353 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||GLDC|mRNA|CODING|NM_000170|) . . . . . . . 0.0440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.19 0.14 182 ENSG00000178445 GLDC GLDC . . . . . . 362 0.00557129 64976 351 0.00585137 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139239113 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0041 0.0012 0 0 0.0029 0.0069 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139239113 rs139239113 1 1538 10 1/0 0,255,255 +rs149316235 9 18905795 A G - ADAMTSL1 14632 ADAMTS-like 1 NM_001040272.5 1 7843 5289 NP_001035362.3 Q8N6G6 substitution missense exon GRCh37 18905795 18905795 Chr9(GRCh37):g.18905795A>G 4867 4867 NM_001040272.5:c.4867A>G p.Ile1623Val p.Ile1623Val 27 609198 16 3' 90.1317 9.07257 0.934537 10.644 90.1317 9.07257 0.931288 X.68 -0.00115886 Thrombospondin, type 1 repeat rs149316235 yes no Frequency/1000G 2 A 0.000000 0 0.002796 0.003800 0.000000 0.000000 0.007000 0.002900 0.003473 0.001585 0.003320 0.000099 0.000000 0.000920 0.003793 0.010961 0.002638 0.010961 959 38 114 1 0 28 479 282 17 276148 23970 34342 10128 18838 30426 126272 25728 6444 0.000022 0.000000 0.000000 0.000000 0.000000 0.000066 0.000016 0.000078 0.000000 3 0 0 0 0 1 1 1 0 953 38 114 1 0 26 477 280 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8389 4130 12519 29 4 33 0.003445 0.000967586 0.00262906 0.003445 0.000967586 0.00262906 82 transition A G A>G 1.000 1.335 I Ile ATC 0.481 V Val GTC 0.240 1623 12 6 Chicken 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Tolerated 0.87 III.48 255 PASS 0.01 0.0027 0.01 . 0.0013 0.0038 0.0028 0.0029 . 0.007 . . . ADAMTSL1:NM_001040272:exon27:c.A4867G:p.I1623V . . 0.54545456 . . @ 54 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.236 . @ . . . . . 1 0.306 . . 99.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I1623V|ADAMTSL1|mRNA|CODING|NM_001040272|NM_001040272.ex.27) 0.001 0.0026 0.0034 0.001 0.0026 0.0034 . -0.4093 -0.171 -0.409 c . . . . . 3.275e-03 . . . 0.0022 0.0033 0.0023 0 0.0164 0.0041 0.0034 0.0010 0.0020 0.0036 0.0024 0 0.0143 0.0040 0.0035 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.417 0.0028 . . . 0.15 0.37 182 ENSG00000178031 ADAMTSL1 ADAMTSL1 . . . 1.000 0.747 . 196 0.0030165 64976 184 0.00306738 59986 Uncertain_significance . 0 . 0.340 . . . . . . . . . 37 . 0.238 . . 0.150 . . . 0.036 0.301 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.117 . . 0 0 0 0 0 0 . 0.119 . . 0.104 . . . . . . 0 0.054 . . . . . 0.358 . 0.134 . HET 0.52 rs149316235 . . . . . . . 0.0027472527472527475 0.006097560975609756 0.0055248618784530384 0.0 0.0013192612137203166 9.1254 0.001156 . 6.VI III.72 . 0.440000 . . . . 0.002629 . 0.374 . . III.72 0.0020 0.0034 0.0033 0.0001 0 0.0110 0.0037 0.0022 0.0009 0.0009 0.0039 0.0036 0 0 0.0106 0.0046 0.0051 . . 0.392 . 1.090 1.090000 . . 0.440000 . . 1.0E-255 1.000 0.715 . 0.653 0.999 . 0.445 . 0.911 1.090 1.062 0.01 . . rs149316235 rs149316235 1 1538 10 1/0 0,255,255 +rs56037765 9 20944629 G A - FOCAD 23377 Focadhesin NM_017794.4 1 6096 5406 NP_060264.4 Q5VW36 substitution synonymous exon GRCh37 20944629 20944629 Chr9(GRCh37):g.20944629G>A 3411 3411 NM_017794.4:c.3411G>A p.Thr1137= p.Thr1137Thr 31 614606 4 3' 77.549 4.17988 0.540231 1.98268 77.549 4.17988 0.44527 1.77944 -0.0585928 rs56037765 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.002000 0.000000 0.008900 0.001400 0.007205 0.001499 0.002608 0.012183 0.000053 0.006278 0.011000 0.004191 0.007815 0.012183 1982 36 88 123 1 191 1385 108 50 275100 24014 33736 10096 18750 30426 125912 25768 6398 0.000087 0.000000 0.000000 0.000198 0.000000 0.000131 0.000143 0.000000 0.000000 12 0 0 1 0 2 9 0 0 1958 36 88 121 1 187 1367 108 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8492 4396 12888 108 10 118 0.0125581 0.00226963 0.00907274 0.0125581 0.00226963 0.00907274 118 transition G A G>A 0.984 -0.117 T Thr ACG 0.116 T Thr ACA 0.280 1137 255 PASS 0.002 0.0046 . . 0.01 0.0008 0.0026 0.0014 . 0.0089 0.002 . . FOCAD:NM_017794:exon31:c.G3411A:p.T1137T . . 0.5277778 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1137|FOCAD|mRNA|CODING|NM_017794|NM_017794.ex.31) 0.0023 0.0091 0.013 0.0023 0.0091 0.013 . I.12 . . . . . . . . 7.490e-03 . . . 0.0015 0.0072 0.0035 0 0.0050 0.0114 0.0085 0.0054 0.0015 0.0072 0.0033 0 0.0041 0.0110 0.0073 0.0054 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.38 0.24 182 ENSG00000188352 FOCAD FOCAD . . . . . . 599 0.00921879 64976 586 0.00976895 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56037765 . 0.058 . . . . . . . . . . . . . . . . . . . . . 0.009073 . . . . . 0.0013 0.0073 0.0026 0.0123 5.838e-05 0.0043 0.0111 0.0079 0.0063 0.0018 0.0065 0.0024 0.0099 0 0.0037 0.0106 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.013 rs56037765 rs56037765 rs56037765 rs56037765 1 1538 10 1/0 0,255,255 +rs148623971 9 27220155 C G - TEK 11724 TEK tyrosine kinase, endothelial NM_000459.4 1 4771 3375 NP_000450.2 Q02763 substitution intron GRCh37 27220155 27220155 Chr9(GRCh37):g.27220155C>G 3200+12 3200+12 NM_000459.4:c.3200+12C>G p.? p.? 21 21 600221 12 5' 75.3696 8.06904 0.975273 3.84483 75.3696 8.06904 0.975273 3.34878 0 rs148623971 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000361 0.000125 0.000029 0.000000 0.000000 0.000000 0.000752 0.000039 0.000000 0.000752 100 3 1 0 0 0 95 1 0 276628 24010 34394 10136 18802 30772 126260 25792 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 100 3 1 0 0 0 95 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4405 12996 9 1 10 0.00104651 0.000226963 0.000768876 0.00104651 0.000226963 0.000768876 116 RCV000304673.1 germline clinical testing Likely benign 1 Multiple Cutaneous and Mucosal Venous Malformations transversion C G C>G 0.874 1.093 255 PASS 0.002 0.0005 . . . 0.0008 0.0002 . . . . . . . . . 0.44117647 . . germline 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Likely//\@benign Likely_benign RCV000304673.1 Multiple_Cutaneous_and_Mucosal_Venous_Malformations MedGen:OMIM:Orphanet C1838437:600195:ORPHA2451 2 . . . 34.0 . . . 0.0002 0.0008 0.001 0.0002 0.0008 0.001 . 0.6714 . . . . . . . . 3.868e-04 . . . 9.739e-05 0.0004 0 0 0 0.0009 0 0 0.0001 0.0003 0 0 0 0.0006 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.24 0.38 182 ENSG00000120156 TEK TEK . . . . . . 32 0.00049249 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148623971 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000769 . . . . 3.IX 0.0001 0.0004 2.98e-05 0 0 4.485e-05 0.0007 0 0 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs148623971 rs148623971 1 1538 10 1/0 0,255,255 +. 9 28148951 A G - LINGO2 21207 Leucine rich repeat and Ig domain containing 2 NM_001258282.2 -1 14592 1821 NP_001245211.1 Q7L985 substitution intron GRCh37 28148951 28148951 Chr9(GRCh37):g.28148951A>G 146219 146219 NM_001258282.2:c.-36+146255T>C p.? p.? 6 6 609793 146255 5' 94.9812 11.083 0.997761 3.53971 94.9812 11.083 0.997761 3.53971 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30670 8650 830 298 1618 0 14840 3466 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition T C T>C 0.039 0.044 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . -0.3959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000229060 LINGO2 LINGO2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +. 9 33795644 AC A - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 deletion intron GRCh37 33795649 33795649 Chr9(GRCh37):g.33795649del 212-992 212-992 NM_007343.3:c.212-992del p.? p.? 2 1 613578 -992 3' 86.5397 8.59516 0.910015 XI.86 86.5397 8.59516 0.910015 XI.86 0 rs370250357 yes no Frequency 1 C 0.000000 0 0.000022 0.000072 0.000031 0.000000 0.000000 0.000067 0.000010 0.000000 0.000000 0.000072 5 1 1 0 0 2 1 0 0 231598 13850 32456 9574 16236 29874 103972 20458 5178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 1 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 RF 88 Exomes C 255 Pass . . . . . . . . . . . . . . . . 0.10638298 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 141 . . . . . . . . . . . . . . . . . . . 2.313e-03 . . . 0.0018 0.0025 0.0052 0.0042 0.0048 0.0022 0 0.0007 0.0019 0.0028 0.0053 0.0036 0.0046 0.0029 0.0017 0.0007 . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000235481 PRSS3 PRSS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs370250357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.22e-05 2.159e-05 3.081e-05 0 0 0 9.618e-06 0 6.695e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370250357 rs370250357 1 1538 10 1.I 0,4,97 +rs780792340 9 33795646 C A - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 substitution intron GRCh37 33795646 33795646 Chr9(GRCh37):g.33795646C>A 212-995 212-995 NM_007343.3:c.212-995C>A p.? p.? 2 1 613578 -995 3' 86.5397 8.59516 0.910015 XI.86 86.5397 8.59516 0.910015 XI.86 0 rs780792340 yes no Frequency 1 C 0.000000 0 0.000109 0.000085 0.000103 0.000000 0.000000 0.000073 0.000172 0.000000 0.000209 0.000172 22 1 3 0 0 2 15 0 1 202080 11730 29152 9146 13890 27528 87044 18800 4790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 1 3 0 0 2 15 0 1 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transversion C A C>A 0.000 -0.037 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 144.0 . . . . . . . . . . 0.1351 . . . . . . . . 1.973e-04 . . . 0 0.0002 0.0002 0 0.0008 0.0002 0 0.0002 0 0.0002 0.0002 0.0001 0.0005 0.0003 0 0.0002 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000235481 PRSS3 PRSS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs780792340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.525e-05 0.0001 0.0001 0 0 0 0.0002 0.0002 7.265e-05 . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 9 33796802 TAAGTG T - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 deletion splice site GRCh37 33796803 33796807 Chr9(GRCh37):g.33796803_33796807del 371+3 371+7 NM_007343.3:c.371+3_371+7del p.? p.? 2 2 613578 3 5' 83.6343 X.43 0.996049 X.26 58.6592 0 0.011159 0 -0.762473 rs757067965 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 2 0 0 0 0 0 2 0 0 275576 23892 34354 10138 18744 30740 125726 25562 6420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5110363|COSM5110363 Skin|Haematopoietic and lymphoid tissue 0.000812|0.000283 1232|3530 AAGTG 255 Pass . . . . . . . . . . . . . . . . 0.13531353 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 303 . . . . . . . . . . . . . . . . . . . 2.605e-04 . . . 9.63e-05 0.0002 0 0.0002 0 0.0002 0 0.0001 0 8.479e-05 0 0 0 0.0001 0 0.0001 . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000235481 PRSS3 PRSS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs757067965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 6.679e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,87 +rs200466488 9 33796811 G A - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 substitution intron GRCh37 33796811 33796811 Chr9(GRCh37):g.33796811G>A 371+11 371+11 NM_007343.3:c.371+11G>A p.? p.? 2 2 613578 11 5' 83.6343 X.43 0.996049 X.26 83.6343 X.43 0.996049 9.72358 0 rs200466488 yes no Frequency 1 G 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 2 0 0 0 0 0 2 0 0 275144 23876 34310 10092 18738 30686 125518 25514 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.609 182 PASS . . . . . . . . . . . . . . . . 0.11676647 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 334.0 . . . . . . . . . . 0.0047 . . . . . . . . 1.263e-04 . . . 0 5.525e-05 0 0 0 9.518e-05 0 6.092e-05 0 5.662e-05 0 0.0001 0 7.375e-05 0 6.127e-05 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.31 0.27 182 ENSG00000235481 PRSS3 PRSS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200466488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 6.695e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs200466488 rs200466488 1 1538 10 1/0 0,176,255 +rs761116640 9 33797929 G C - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 substitution missense exon GRCh37 33797929 33797929 Chr9(GRCh37):g.33797929G>C 474 474 NM_007343.3:c.474G>C p.Arg158Ser p.Arg158Ser 3 613578 103 3' 71.2642 4.27154 0.091283 3.46152 71.2642 4.27154 0.091283 3.46152 0 Peptidase S1/S6, chymotrypsin/Hap rs761116640 yes no Frequency 1 G 0.000000 0 0.000291 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.015152 2 2 0 0 0 0 0 0 0 6866 132 66 256 6 0 6258 2 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 306 Genomes COSM5461671 Large intestine 0.000448 2231 transversion G C G>C 0.000 -0.117 R Arg AGG 0.207 S Ser AGC 0.243 158 12 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 153.06 0.00 Tolerated 1 III.75 good 9.995E-1 0.04864 174 PASS . . . . . . . . . . . . . . . . 0.101604275 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.033 . . 187.0 . . . . . . . . . . -2.0482 -2.066 -2.048 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.874 . . exonic exonic exonic . . 0.018 @ . . . . . . ENSG00000010438 PRSS3 PRSS3 . . . 1.000 0.437 . . . . . . . Uncertain_significance . 0 . 0.481 . . . . D 0.556 0.034 . . 37 . 0.555 . . 0.615 . . . 0.030 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 0 0.010 . . . . . 0.178 . 0.570 . LowAF 0.89 . . . . . . . . . . . . . V.25 . . III.62 -6.27 . 1.000000 . . . . . . 0.026 . . . . . . . . . . . . 0.0152 0.0003 0 0 0 0 0 0 . . 0.216 . -0.986 -0.986000 . . 1.000000 . . 1.0E-174 0.014 0.188 . 0.043 0.005 . 0.226 . 0.028 -0.986 -0.745 . . . . . 1 1538 10 1/0 0,199,255 +rs202002598 9 33797932 C G - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 substitution missense exon GRCh37 33797932 33797932 Chr9(GRCh37):g.33797932C>G 477 477 NM_007343.3:c.477C>G p.Asp159Glu p.Asp159Glu 3 613578 106 3' 71.2642 4.27154 0.091283 3.46152 71.2642 4.27154 0.091283 3.46152 0 Peptidase S1/S6, chymotrypsin/Hap rs202002598 yes no Frequency 1 C 0.000000 0 0.000080 0.000084 0.000000 0.000000 0.000000 0.000000 0.000150 0.000039 0.000000 0.000150 22 2 0 0 0 0 19 1 0 276596 23848 34410 10150 18802 30782 126410 25744 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 2 0 0 0 0 19 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5461679 Large intestine 0.000448 2231 transversion C G C>G 0.000 -0.763 D Asp GAC 0.539 E Glu GAG 0.583 159 12 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 190.55 0.00 Tolerated 0.9 III.75 good 1.103E-1 0.6125 184 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.036 . . 204.0 . . . . . . . . . . -1.9118 -1.941 -1.912 c . . . . . 6.315e-05 . . . 0 4.409e-05 0 0 0 9.496e-05 0 0 0 4.709e-05 0 0 0 9.203e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.885 . . exonic exonic exonic . . 0.043 @ . . . 0.47 0.26 182 ENSG00000010438 PRSS3 PRSS3 . . . 0.998 0.359 . 7 0.000107732 64976 7 0.000116694 59986 Uncertain_significance . 0 . 0.065 . . . . D 0.544 0.032 . . 37 . 0.726 . . 0.604 . . . 0.036 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.026 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.020 . . . . . 0.110 . 0.460 . LowAF 0.58 rs202002598 . . . . . . . . . . . . IV.93 . . III.62 -3.53 . 0.890000 . . . . . . 0.036 . . . 0 7.31e-05 0 0 0 4.484e-05 0.0002 0 0 0.0002 0.0001 0 0 0 0 0.0001 0 . . 0.216 . -0.533 -0.533000 . . 0.890000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.002 . 0.038 . 0.001 -0.533 -1.235 . . . rs202002598 rs202002598 1 1538 10 1/0 0,225,255 +. 9 33952786 T G - SNORD121A 33560 Small nucleolar RNA, C/D box 121A NR_003685.1 -1 91 0 substitution exon GRCh37 33952786 33952786 Chr9(GRCh37):g.33952786T>G 67 67 NR_003685.1:n.67A>C 1 transversion A C A>C 0.000 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . . . . . . . . . I.56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000238886 SNORD121A SNORD121A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.II . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 9 33952786 T G - UBAP2 14185 Ubiquitin associated protein 2 NM_018449.3 -1 4284 3360 NP_060919.3 Q5T6F2 substitution intron GRCh37 33952786 33952786 Chr9(GRCh37):g.33952786T>G 1056+497 1056+497 NM_018449.3:c.1056+497A>C p.? p.? 12 12 497 5' 78.7929 5.44927 0.804296 1.31616 78.7929 5.44927 0.804296 1.31616 0 transversion A C A>C 0.000 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . . . . . . . . . I.56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000238886 SNORD121A SNORD121A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.II . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs747512357 9 34834500 G A - FAM205BP 24504 Family with sequence similarity 205, member B, pseudogene NR_024481.1 -1 6130 0 substitution exon GRCh37 34834500 34834500 Chr9(GRCh37):g.34834500G>A 1894 1894 NR_024481.1:n.1894C>T 4 1550 3' 91.1912 9.76348 0.884217 6.0963 91.1912 9.76348 0.884217 6.0963 0 rs747512357 yes no Frequency 1 A 0.000000 0 0.000287 0.001696 0.000162 0.000000 0.001360 0.000044 0.000055 0.000000 0.000206 0.001696 52 26 4 0 16 1 4 0 1 180884 15326 24754 8542 11764 22822 72690 20136 4850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 52 26 4 0 16 1 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.063 1.013 235 PASS . . . . . . . . . . . . FAM205B:uc003zvp.4:exon4:c.C980T:p.S327L . . . 0.25536993 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 419.0 . . STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R632*|FAM205BP|Non-coding_transcript|NON_CODING|NR_024481|NR_024481.ex.4) . . . . . . . -0.9915 . . . . . . . . 1.663e-04 . . . 0.0014 0.0002 0 0 0 0.0001 0 0 0.0019 0.0002 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.42 0.65 182 ENSG00000257198 FAM205B FAM205BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs747512357 . . . . . . . . . . . . 6.746 . ENST00000455647 IV.41 IV.41 . 1.000000 Q63HN1 . . . . . . . . IV.41 0.0001 0.0001 0.0002 0 0.0011 0 3.445e-05 0 4.382e-05 0.0033 0.0011 0 0 0.0032 0 0.0001 0.0010 . . . . 0.754 0.754000 . . 1.000000 . . 1.0E-235 . . . . . . . . . 0.754 . . rs528197 rs528197 rs528197 rs528197 1 1538 10 1/0 0,180,255 +rs2988118 9 34835532 A G - FAM205BP 24504 Family with sequence similarity 205, member B, pseudogene NR_024481.1 -1 6130 0 substitution exon GRCh37 34835532 34835532 Chr9(GRCh37):g.34835532A>G 862 862 NR_024481.1:n.862T>C 4 518 3' 91.1912 9.76348 0.884217 6.0963 91.1912 9.76348 0.884217 6.0963 0 rs2988118 yes no Frequency 1 A 0.000000 0 0.000187 0.000309 0.000121 0.000468 0.000169 0.000088 0.000205 0.000051 0.000413 0.000468 34 5 3 4 2 2 15 1 2 181668 16166 24764 8550 11830 22798 73030 19684 4846 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 5 3 4 2 2 15 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.609 190 PASS . . . . . . . . . . . . . . . . 0.13605443 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 147.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S288P|FAM205BP|Non-coding_transcript|NON_CODING|NR_024481|NR_024481.ex.4) . . . . . . . 0.1555 . . . . . . . . 4.979e-04 . . . 0.0014 0.0005 0 0 0 0.0002 0 0.0005 0.0013 0.0005 0 0 0 0.0004 0 0.0005 . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . 0.58 0.82 182 ENSG00000257198 FAM205B FAM205BP . uc003zvp.4:c.-53T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2988118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.34 0.0005 0.0002 0.0001 0.0005 0.0002 0 0.0002 0.0003 8.773e-05 0.0001 0.0001 0 0 0 0.0003 6.718e-05 0.0010 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs2988118 rs2988118 rs2988118 rs2988118 1 1538 10 1/0 0,213,255 +rs181962423 9 34972352 G A - PHF24 29180 PHD finger protein 24 NM_001347982.1 1 5854 1206 NP_001334911.1 substitution missense exon GRCh37 34972352 34972352 Chr9(GRCh37):g.34972352G>A 388 388 NM_001347982.1:c.388G>A p.Asp130Asn p.Asp130Asn 3 10 3' 90.3059 XI.72 0.992038 13.7813 90.3059 XI.72 0.991027 13.4306 -0.000339705 rs181962423 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000800 0.000000 0.000000 0.000000 0.010100 0.001664 0.000459 0.001481 0.000103 0.000054 0.000540 0.002839 0.000312 0.001899 0.002839 452 11 49 1 1 16 354 8 12 271676 23952 33080 9732 18624 29656 124676 25636 6320 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 450 11 49 1 1 16 352 8 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4178 12644 16 2 18 0.00188635 0.000478469 0.00142158 0.00188635 0.000478469 0.00142158 171 COSM3699669 Large intestine 0.000450 2220 transition G A G>A 1.000 3.918 D Asp GAT 0.461 N Asn AAT 0.464 130 12 11 Zebrafish 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 213.16 22.75 Deleterious 0 III.62 255 PASS . 0.0023 0.01 . . 0.0008 0.0016 0.01 . . . . . . . . 0.56790125 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.818 . @ . . . . . 1 0.991 . . 81.0 . . . 0.0005 0.0014 0.0019 0.0005 0.0014 0.0019 . 0.6280 0.682 0.628 c . . . . . 1.511e-03 . . . 0.0006 0.0017 0.0017 0 0.0005 0.0026 0.0015 0.0006 0.0006 0.0015 0.0017 0 0.0005 0.0021 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.897 0.0016 . . . 0.4 0.36 182 ENSG00000122733 KIAA1045 PHF24 . . . 1.000 0.489 . 286 0.00440163 64976 279 0.00465109 59986 Uncertain_significance . 0 . 0.559 . . . . . . . . . 37 . 0.495 . . 0.628 . . . 0.440 0.513 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.540 . . 0 0 0 0 0 0 . 0.556 . . 0.398 . . . . . . 0 0.461 . . . . . 0.923 . 0.199 . HET 0.05 rs181962423 . . . . . . ID\x3dCOSM3699669\x3bOCCURENCE\x3d1(large_intestine) 0.0022893772893772895 0.0 0.013812154696132596 0.0 0.0 18.8848 5.71E-4 . V.73 V.73 . 0.030000 Q9UPV7 . . . 0.001422 . 0.717 . . V.73 0.0005 0.0016 0.0015 0.0001 0 0.0004 0.0028 0.0017 0.0005 0.0005 0.0018 0.0024 0 0.0006 0 0.0031 0.0031 . . 0.283 . 2.700 2.700000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.761 . 0.551 2.700 0.917 0.01 . . rs181962423 rs181962423 1 1538 10 1/0 0,255,255 +rs750564651 9 35750902 G A - GBA2 18986 Glucosidase, beta (bile acid) 2 NM_020944.2 -1 3611 2784 NP_065995.1 Q9HCG7 substitution upstream GRCh37 35750902 35750902 Chr9(GRCh37):g.35750902G>A -2201 -2201 NM_020944.2:c.-2201C>T p.? p.? 1 609471 -2560 5' 92.583 10.0326 0.995272 5.32971 92.583 10.0326 0.995272 5.32971 0 rs750564651 yes no Frequency 1 G 0.000000 0 0.000180 0.000042 0.000000 0.000000 0.000000 0.000000 0.000355 0.000039 0.000464 0.000355 50 1 0 0 0 0 45 1 3 277176 24016 34414 10152 18870 30782 126690 25790 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 1 0 0 0 0 45 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 1.000 5.451 255 PASS . . . . . . . . . . . . RGP1:uc011lpf.2:exon5:c.G403A:p.V135I RGP1:NM_001080496:exon5:c.G403A:p.V135I . . 0.46456692 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.607 . @ . . . . . 1 0.661 . . 127.0 . . . . . . . . . . 0.3497 0.476 0.350 c . . . . . 2.797e-04 . . . 0 8.88e-05 0 0 0 0.0002 0 0 0 0.0003 0 0 0 0.0006 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.756 @ . . . . . . ENSG00000107185 RGP1 RGP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.150 0.006 . . 37 . 0.465 . . 0.436 . . . 0.604 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.395 . . 0.307 . . . . . . 1 0.235 . . . . . 0.903 . 0.484 . HET 0.19 rs750564651 . . . . . . . . . . . . 18.3698 . . V.33 V.33 . 0.410000 . . . Name\x3ddgv8168n71 . . 0.953 . . V.33 0 0.0002 0 0 0 4.485e-05 0.0004 0.0005 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . 0.924 . 2.636 2.636000 . . 0.410000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.914 . 0.551 2.636 0.917 . . . . . 1 1538 10 1/0 0,252,255 +rs750564651 9 35750902 G A - RGP1 21965 RGP1 retrograde golgi transport homolog (S. cerevisiae) NM_001080496.2 1 1717 1176 NP_001073965.2 Q92546 substitution missense exon GRCh37 35750902 35750902 Chr9(GRCh37):g.35750902G>A 403 403 NM_001080496.2:c.403G>A p.Val135Ile p.Val135Ile 5 615742 66 3' 78.916 3.88344 0.032081 4.74611 78.916 3.88344 0.032081 4.42661 0 Reduced growth phenotype protein 1 rs750564651 yes no Frequency 1 G 0.000000 0 0.000180 0.000042 0.000000 0.000000 0.000000 0.000000 0.000355 0.000039 0.000464 0.000355 50 1 0 0 0 0 45 1 3 277176 24016 34414 10152 18870 30782 126690 25790 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 1 0 0 0 0 45 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 1.000 5.451 V Val GTC 0.240 I Ile ATC 0.481 135 11 9 Tetraodon 3 3 4 0 0 5.IX 5.II 84 111 29 C0 154.81 0.00 Tolerated 0.53 III.13 good 7.251E-1 0.1518 255 PASS . . . . . . . . . . . . RGP1:uc011lpf.2:exon5:c.G403A:p.V135I RGP1:NM_001080496:exon5:c.G403A:p.V135I . . 0.46456692 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.607 . @ . . . . . 1 0.661 . . 127.0 . . . . . . . . . . 0.3497 0.476 0.350 c . . . . . 2.797e-04 . . . 0 8.88e-05 0 0 0 0.0002 0 0 0 0.0003 0 0 0 0.0006 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.756 @ . . . . . . ENSG00000107185 RGP1 RGP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.150 0.006 . . 37 . 0.465 . . 0.436 . . . 0.604 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.395 . . 0.307 . . . . . . 1 0.235 . . . . . 0.903 . 0.484 . HET 0.19 rs750564651 . . . . . . . . . . . . 18.3698 . . V.33 V.33 . 0.410000 . . . Name\x3ddgv8168n71 . . 0.953 . . V.33 0 0.0002 0 0 0 4.485e-05 0.0004 0.0005 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . 0.924 . 2.636 2.636000 . . 0.410000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.914 . 0.551 2.636 0.917 . . . . . 1 1538 10 1/0 0,252,255 +rs151064858 9 35841612 G T - TMEM8B 21427 Transmembrane protein 8B NM_001042589.2 1 3448 1419 NP_001036054.1 A6NDV4 substitution 5'UTR GRCh37 35841612 35841612 Chr9(GRCh37):g.35841612G>T -227 -227 NM_001042589.2:c.-227G>T p.? p.? 6 616888 90 3' 86.2534 7.41178 0.882808 9.27917 86.2534 7.41178 0.882808 9.27917 0 Cryptic Acceptor Strongly Activated 35841627 4.32041 0.010503 68.9022 5.06924 0.026797 68.9022 rs151064858 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.000000 0.000000 0.007000 0.013000 0.005371 0.001720 0.007160 0.009934 0.000000 0.000000 0.008896 0.001145 0.005102 0.009934 166 15 6 3 0 0 133 4 5 30904 8722 838 302 1618 0 14950 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 166 15 6 3 0 0 133 4 5 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion G T G>T 1.000 1.577 255 PASS 0.002 0.01 0.01 . 0.01 . 0.0032 0.013 . 0.007 . . . . . . 0.4526316 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . I.68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.0032 . . . 0.7 0.85 182 ENSG00000137103 TMEM8B TMEM8B . . . . . . 433 0.006664 64976 416 0.00693495 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.38 rs151064858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.33 . . . . . . . . . 0.0017 0.0054 0.0072 0.0099 0 0.0011 0.0089 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151064858 rs151064858 1 1538 10 1/0 0,255,255 +rs79193527 9 36339696 G A - RNF38 18052 Ring finger protein 38 NM_022781.4 -1 5091 1548 NP_073618.3 Q9H0F5 substitution 3'UTR GRCh37 36339696 36339696 Chr9(GRCh37):g.36339696G>A *53 *53 NM_022781.4:c.*53C>T p.? p.? 12 612488 116 3' 93.3933 XI.59 0.995677 XI.26 93.3933 XI.59 0.995677 XI.26 0 rs79193527 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.004906 0.001718 0.003580 0.003311 0.000617 0.000000 0.008059 0.001145 0.007128 0.008059 152 15 3 1 1 0 121 4 7 30980 8730 838 302 1620 0 15014 3494 982 0.006579 0.000000 0.000000 0.000000 0.000000 0.000000 0.008264 0.000000 0.000000 1 0 0 0 0 0 1 0 0 150 15 3 1 1 0 119 4 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes 3151 1381 4532 31 3 34 0.0097423 0.00216763 0.00744634 0.0097423 0.00216763 0.00744634 92 transition C T C>T 0.551 -1.005 255 PASS . 0.0027 0.0028 . 0.01 . 0.0014 0.0014 . 0.006 . . . . . . 0.34615386 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . 0.0022 0.0074 0.0097 0.0022 0.0074 0.0097 . 0.9408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0014 . . . 0.81 0.63 182 ENSG00000137075 RNF38 RNF38 . . . . . . 548 0.00843388 64976 542 0.00903544 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79193527 . . . . . . . . . . . . . . . . . . . . . . . 0.007446 . . . . . . . . . . . . . . 0.0017 0.0049 0.0036 0.0033 0.0006 0.0011 0.0081 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs79193527 rs79193527 1 1538 10 1/0 0,255,255 +rs41303225 9 37428578 C T - GRHPR 4570 Glyoxylate reductase/hydroxypyruvate reductase NM_012203.1 1 1235 987 NP_036335.1 Q9UBQ7 substitution intron GRCh37 37428578 37428578 Chr9(GRCh37):g.37428578C>T 493+9 493+9 NM_012203.1:c.493+9C>T p.? p.? 5 5 604296 9 5' 86.4908 7.64824 0.907432 17.1043 86.4908 7.64824 0.907432 16.9039 0 rs41303225 yes no Frequency/1000G 2 C uncertain_significance,benign 0.000000 0 0.004992 0.000000 0.006100 0.001000 0.011900 0.008600 0.009107 0.001800 0.003460 0.003652 0.000000 0.007120 0.013166 0.015728 0.009828 0.015728 2474 43 119 37 0 219 1660 333 63 271648 23890 34398 10132 18806 30758 126082 21172 6410 0.000177 0.000000 0.000058 0.000000 0.000000 0.000195 0.000286 0.000094 0.000312 24 0 1 0 0 3 18 1 1 2426 43 117 37 0 213 1624 331 61 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8472 4395 12867 128 11 139 0.0148837 0.0024966 0.0106874 0.0148837 0.0024966 0.0106874 52 RCV000295367.1|RCV000245251.1 germline|germline clinical testing|clinical testing VUS|Benign 1|1 Primary hyperoxaluria|not specified transition C T C>T 0.000 0.205 255 PASS . 0.01 0.0028 0.0017 0.01 . 0.005 0.0086 0.001 0.012 0.0061 . . . . . 0.5504587 . . germline 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign//\%//\@Uncertain//\@significance Benign|Uncertain_significance RCV000245251.1|RCV000295367.1 not_specified|Primary_hyperoxaluria MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0020501:ORPHA416:17901006 2 . . . 109.0 . . INTRON(MODIFIER||||GRHPR|mRNA|CODING|NM_012203|) 0.0025 0.011 0.015 0.0025 0.011 0.015 . 0.1840 . . . . . . . . 9.714e-03 . . . 0.0018 0.0091 0.0032 0 0.0153 0.0138 0.0057 0.0077 0.0016 0.0096 0.0031 0 0.0142 0.0136 0.0130 0.0077 . . . . . . intronic UTR5 intronic . . . 0.0050 . . . 0.5 0.08 182 ENSG00000137106 GRHPR GRHPR . . . . . . 711 0.0109425 64976 686 0.011436 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41303225 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010687 . . . . . 0.0015 0.0092 0.0035 0.0037 0 0.0153 0.0134 0.0103 0.0071 0.0024 0.0087 0.0036 0.0033 0 0.0177 0.0117 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.015 rs41303225 rs41303225 rs41303225 rs41303225 1 1538 10 1/0 0,255,255 +rs56069880 9 37735698 G A - FRMPD1 29159 FERM and PDZ domain containing 1 NM_014907.2 1 4916 4737 NP_055722.2 Q5SYB0 substitution synonymous exon GRCh37 37735698 37735698 Chr9(GRCh37):g.37735698G>A 1368 1368 NM_014907.2:c.1368G>A p.Val456= p.Val456Val 13 616919 -34 5' 81.6684 8.92197 0.955705 5.64527 81.6684 8.92197 0.955705 4.87189 0 Cryptic Donor Strongly Activated 37735695 5.89048 0.058559 77.4164 7.30895 0.857025 81.7787 FERM domain rs56069880 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.002000 0.000000 0.006000 0.000000 0.004440 0.000666 0.001949 0.000099 0.000000 0.001594 0.005764 0.013230 0.004026 0.013230 1230 16 67 1 0 49 730 341 26 277028 24022 34370 10150 18864 30746 126644 25774 6458 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000388 0.000310 6 0 0 0 0 0 0 5 1 1218 16 67 1 0 49 730 331 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8559 4404 12963 41 2 43 0.00476744 0.000453926 0.00330617 0.00476744 0.000453926 0.00330617 106 transition G A G>A 1.000 2.546 V Val GTG 0.468 V Val GTA 0.114 456 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.006 0.002 . . FRMPD1:NM_014907:exon13:c.G1368A:p.V456V . . 0.41509435 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V456|FRMPD1|mRNA|CODING|NM_014907|NM_014907.ex.13) 0.0005 0.0033 0.0048 0.0005 0.0033 0.0048 . I.18 . . . . . . . . 4.538e-03 . . . 0.0008 0.0031 0.0010 0 0.0121 0.0044 0.0070 0.0015 0.0008 0.0045 0.0009 0 0.0110 0.0066 0.0101 0.0015 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.49 0.45 182 ENSG00000070601 FRMPD1 FRMPD1 . . . . . . 295 0.00454014 64976 288 0.00480112 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56069880 . . . . . . . . . . . . . . . . . . . . . . . 0.003306 . . . . V.95 0.0007 0.0045 0.0020 0.0001 0 0.0130 0.0059 0.0038 0.0016 0.0006 0.0041 0 0 0 0.0146 0.0044 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs56069880 rs56069880 rs56069880 rs56069880 1 1538 10 1/0 0,255,255 +rs4008243 9 37887862 A C - SLC25A51 23323 Solute carrier family 25, member 51 NM_033412.3 -1 1404 894 NP_219480.1 Q9H1U9 substitution missense exon GRCh37 37887862 37887862 Chr9(GRCh37):g.37887862A>C 686 686 NM_033412.3:c.686T>G p.Phe229Cys p.Phe229Cys 3 728 3' 92.439 8.25209 0.97871 7.64878 92.439 8.25209 0.97871 7.64878 0 Mitochondrial substrate/solute carrier rs4008243 yes no Frequency 1 A 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000292 0.000000 0.000292 1 0 0 0 0 0 0 1 0 30796 8670 832 302 1612 0 14976 3428 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes COSM6359779 Thyroid 0.001339 747 transversion T G T>G 1.000 2.465 F Phe TTT 0.454 C Cys TGT 0.448 229 15 12 C. elegans -2 -2 -4 0 II.75 5.II 5.V 132 55 205 C0 154.81 91.34 Deleterious 0.04 III.32 good 3.165E-1 0.04477 175 PASS . . . . . . . . . . . . . SLC25A51:NM_033412:exon3:c.T686G:p.F229C . . 0.10344828 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.414 . @ . . . . . 1 0.566 . . 87.0 . . . . . . . . . . 0.5441 0.490 0.544 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.788 . . exonic exonic exonic . . 0.413 @ . . . 0.46 0.3 182 ENSG00000122696 SLC25A51 SLC25A51 . . . 0.999 0.385 . . . . . . . Uncertain_significance . 0 . 0.434 . . . . D 0.732 0.079 . . 37 . 0.831 . . 0.810 . . . 0.646 0.503 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.885 . . 0 0 0 0 0 0 . 0.689 . . 0.677 . . . . . . 2 0.369 . . . . . 0.404 . 0.628 . LowAF 0.12 rs4008243 . . . . . . . . . . . . IX.47 . . IV.85 III.69 . 0.180000 Q9H1U9 . . Name\x3dnsv469814 . . 0.610 . . III.69 . . . . . . . . . 0 3.247e-05 0 0 0 0.0003 0 0 . . 0.465 . 0.795 0.795000 . . 0.180000 . . 1.0E-175 1.000 0.715 . 0.461 0.859 . 0.757 . 0.206 0.795 0.042 . rs4008243 rs4008243 rs4008243 rs4008243 1 1538 10 1/0 0,232,255 +rs753820626 9 39078720 G A - CNTNAP3 13834 Contactin associated protein-like 3 NM_033655.3 -1 5229 3867 NP_387504.2 Q9BZ76 substitution missense exon GRCh37 39078720 39078720 Chr9(GRCh37):g.39078720G>A 3640 3640 NM_033655.3:c.3640C>T p.Arg1214Trp p.Arg1214Trp 22 610517 -34 5' 85.464 6.99123 0.734933 8.26966 85.464 6.99123 0.734933 7.74157 0 rs753820626 yes no Frequency 1 G 0.000000 0 0.005605 0.004263 0.004459 0.004566 0.006152 0.001376 0.005447 0.016121 0.006813 0.016121 373 45 36 6 40 7 157 69 13 66546 10556 8074 1314 6502 5088 28824 4280 1908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 373 45 36 6 40 7 157 69 13 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4592383|COSM4592383|COSM4592383 Upper aerodigestive tract|Liver|Haematopoietic and lymphoid tissue 0.008039|0.000422|0.000283 1244|2371|3530 transition C T C>T 0.000 -0.440 R Arg CGG 0.207 W Trp TGG 1.000 1214 12 4 Dog -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 295.36 0.00 Tolerated 0.19 II.77 bad 1.233E-4 0.0001143 255 PASS . . . . . . . . . . . . . CNTNAP3:NM_033655:exon22:c.C3640T:p.R1214W . . 0.33333334 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.351 . @ . . . . . 1 0.445 . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1214W|CNTNAP3|mRNA|CODING|NM_033655|NM_033655.ex.22) . . . . . . . -1.0617 -1.142 -1.062 c . . . . . 1.446e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.910 . . exonic exonic exonic . . 0.054 @ . . . 0.3 0.45 182 ENSG00000106714 CNTNAP3 CNTNAP3 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.901 0.277 . . 37 . 0.797 . . 0.639 . . . 0.469 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.444 . . 0 0 0 0 0 0 . 0.188 . . 0.127 . . . . . . 0 0.260 . . . . . 0.134 . 0.207 . HET 0.18 rs753820626 . . . . . . . . . . . . IV.07 . . II.64 -2.82 . 0.220000 . . . . . . 0.114 . . . 0.0074 0.0050 0.0043 0.0038 0.0076 0.0036 0.0052 0.0068 0.0014 0.0026 0.0067 0.0058 0.0081 0.0007 0.0266 0.0059 0.0068 . . 0.246 . -0.335 -0.335000 . . 0.220000 . . 1.0E-255 0.837 0.300 . 0.104 0.001 . 0.165 . 0.149 -0.335 -1.560 . . . rs75327168 rs75327168 1 1538 10 1/0 0,255,255 +rs761849994 9 39078721 C A - CNTNAP3 13834 Contactin associated protein-like 3 NM_033655.3 -1 5229 3867 NP_387504.2 Q9BZ76 substitution synonymous exon GRCh37 39078721 39078721 Chr9(GRCh37):g.39078721C>A 3639 3639 NM_033655.3:c.3639G>T p.Ala1213= p.Ala1213Ala 22 610517 -35 5' 85.464 6.99123 0.734933 8.26966 85.464 6.99123 0.734933 7.68098 0 rs761849994 yes no Frequency 1 C 0.000000 0 0.005638 0.004288 0.004529 0.004651 0.005752 0.001398 0.005506 0.016212 0.007543 0.016212 371 45 36 6 37 7 157 69 14 65798 10494 7948 1290 6432 5006 28516 4256 1856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 371 45 36 6 37 7 157 69 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5094831 Thymus 0.006579 152 transversion G T G>T 0.000 -0.117 A Ala GCG 0.107 A Ala GCT 0.263 1213 236 PASS . . . . . . . . . . . . . CNTNAP3:NM_033655:exon22:c.G3639T:p.A1213A . . 0.26923078 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 26.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcT|A1213|CNTNAP3|mRNA|CODING|NM_033655|NM_033655.ex.22) . . . . . . . 0.1281 . . . . . . . . 7.211e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.39 182 ENSG00000106714 CNTNAP3 CNTNAP3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs761849994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0076 0.0050 0.0044 0.0038 0.0071 0.0036 0.0053 0.0070 0.0014 0.0026 0.0068 0.0058 0.0083 0.0007 0.0268 0.0059 0.0083 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs77009119 rs77009119 1 1538 10 1/0 0,255,255 +. 9 39078733 G A - CNTNAP3 13834 Contactin associated protein-like 3 NM_033655.3 -1 5229 3867 NP_387504.2 Q9BZ76 substitution synonymous exon GRCh37 39078733 39078733 Chr9(GRCh37):g.39078733G>A 3627 3627 NM_033655.3:c.3627C>T p.Ser1209= p.Ser1209Ser 22 610517 -47 5' 85.464 6.99123 0.734933 8.26966 85.464 6.99123 0.734933 8.28345 0 0.005327 0.004139 0.004197 0.004673 0.006020 0.001638 0.005350 0.013854 0.005985 0.013854 345 43 33 6 38 8 151 55 11 64762 10388 7862 1284 6312 4884 28224 3970 1838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 345 43 33 6 38 8 151 55 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5956705 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -0.763 S Ser TCC 0.220 S Ser TCT 0.185 1209 255 PASS . . . . . . . . . . . . . CNTNAP3:NM_033655:exon22:c.C3627T:p.S1209S . . 0.45454547 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 22.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1209|CNTNAP3|mRNA|CODING|NM_033655|NM_033655.ex.22) . . . . . . . -0.0996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.45 182 ENSG00000106714 CNTNAP3 CNTNAP3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0051 0.0043 0.0048 0.0076 0.0046 0.0054 0.0072 0.0016 0.0028 0.0056 0.0028 0.0040 0 0.0197 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78516261 rs78516261 1 1538 10 1/0 0,255,255 +. 9 39177438 G A - CNTNAP3 13834 Contactin associated protein-like 3 NM_033655.3 -1 5229 3867 NP_387504.2 Q9BZ76 substitution synonymous exon GRCh37 39177438 39177438 Chr9(GRCh37):g.39177438G>A 804 804 NM_033655.3:c.804C>T p.Asp268= p.Asp268Asp 6 610517 62 3' 82.4403 X.23 0.921394 14.2293 82.4403 X.23 0.921394 13.9938 0 Laminin G domain Concanavalin A-like lectin/glucanases superfamily 0.000008 0.000000 0.000030 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 2 0 1 0 0 1 0 0 0 245908 15302 33578 9850 17242 30780 111376 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 67 Exomes transition C T C>T 0.850 -0.924 D Asp GAC 0.539 D Asp GAT 0.461 268 191 PASS . . . . . . . . . . . . . CNTNAP3:NM_033655:exon6:c.C804T:p.D268D . . 0.1369863 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 219.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D268|CNTNAP3|mRNA|CODING|NM_033655|NM_033655.ex.6) . . . . . . . 0.3154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000106714 CNTNAP3 CNTNAP3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.133e-06 2.978e-05 0 0 0 0 0 3.249e-05 . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs11521860 9 39357339 A C - SPATA31A1 23394 SPATA31 subfamily A, member 1 NM_001085452.2 1 4259 4086 NP_001078921.2 substitution intron GRCh37 39357339 39357339 Chr9(GRCh37):g.39357339A>C 289+153 289+153 NM_001085452.2:c.289+153A>C p.? p.? 2 2 153 5' 91.9265 X.44 0.996809 7.43226 91.9265 X.44 0.996809 7.43226 0 rs11521860 no no 0 A 0.000000 0 0.001125 0.000000 0.003650 0.000000 0.005952 0.000000 0.002775 0.000000 0.004310 0.005952 8 0 1 0 1 0 5 0 1 7112 2740 274 38 168 0 1802 1858 232 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 1 0 1 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion A C A>C 0.035 1.174 199 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||SPATA31A1|mRNA|CODING|NM_001085452.2|) . . . . . . . 0.0353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000204849 SPATA31A2 SPATA31A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs11521860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0.0036 0 0.0060 0 0.0028 0.0043 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs11521860 rs11521860 rs11521860 rs11521860 1 1538 10 1/0 0,255,255 +. 9 39358929 G A - SPATA31A1 23394 SPATA31 subfamily A, member 1 NM_001085452.2 1 4259 4086 NP_001078921.2 substitution synonymous exon GRCh37 39358929 39358929 Chr9(GRCh37):g.39358929G>A 1209 1209 NM_001085452.2:c.1209G>A p.Ser403= p.Ser403Ser 4 859 3' 83.1675 X.46 0.923585 9.01638 83.1675 X.46 0.923585 9.01638 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6533 Exomes transition G A G>A 0.000 -0.117 S Ser TCG 0.056 S Ser TCA 0.148 403 236 PASS . . . . . . . . . . . ENSG00000204849:ENST00000377647:exon4:c.G1167A:p.S389S SPATA31A2:uc004abm.3:exon4:c.G1167A:p.S389S SPATA31A1:NM_001085452:exon4:c.G1209A:p.S403S . . 0.26666668 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 30.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S403|SPATA31A1|mRNA|CODING|NM_001085452.2|NM_001085452.2.ex.4) . . . . . . . -0.3159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204849 SPATA31A2 SPATA31A1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 39359762 C T - SPATA31A1 23394 SPATA31 subfamily A, member 1 NM_001085452.2 1 4259 4086 NP_001078921.2 substitution missense exon GRCh37 39359762 39359762 Chr9(GRCh37):g.39359762C>T 2042 2042 NM_001085452.2:c.2042C>T p.Pro681Leu p.Pro681Leu 4 1692 3' 83.1675 X.46 0.923585 9.01638 83.1675 X.46 0.923585 9.01638 0 COSM5428165 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -1.167 P Pro CCG 0.115 L Leu CTG 0.404 681 12 4 Olive baboon -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 244.82 0.00 Tolerated 1 III.32 176 PASS . . . . . . . . . . . ENSG00000204849:ENST00000377647:exon4:c.C2000T:p.P667L SPATA31A2:uc004abm.3:exon4:c.C2000T:p.P667L SPATA31A1:NM_001085452:exon4:c.C2042T:p.P681L . . 0.10526316 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.029 . @ . . . . . 1 0.013 . . 76.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P681L|SPATA31A1|mRNA|CODING|NM_001085452.2|NM_001085452.2.ex.4) . . . . . . . -1.8340 -1.891 -1.834 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.039 @ . . . . . . ENSG00000204849 SPATA31A2 SPATA31A1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.042 . . . . T 0.018 0.001 . . 37 . 0.021 . . 0.431 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 . . . . . . 0.098 . 0.084 . LowAF 1 . . . . . . . . . . . . . 4.1817 . ENST00000377647 I.95 -3.9 . 0.680000 Q5TZJ5 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.237 -1.237000 . . 0.680000 . . 1.0E-176 0.000 0.063 . 0.016 0.000 . 0.133 . 0.046 -1.237 -0.404 . rs2491540 rs2491540 rs2491540 rs2491540 1 1538 10 1/0 0,238,255 +rs62550849 9 39376827 T G - FAM74A1 32029 Family with sequence similarity 74, member A1 NR_026803.2 1 623 0 substitution intron GRCh37 39376827 39376827 Chr9(GRCh37):g.39376827T>G 547-10 547-10 NR_026803.2:n.547-10T>G p.? p.? 2 1 -10 3' 87.0479 9.27378 0.960944 5.86026 81.1144 VI.44 0.794275 1.73573 -0.164262 rs62550849 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 8 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1270 Genomes transversion T G T>G 0.098 0.367 255 PASS . . . . . . . . . . . . . . . . 0.7777778 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 9.0 . . INTRON(MODIFIER||||FAM74A1|Non-coding_transcript|NON_CODING|NR_026803.5|) . . . . . . . -0.2582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000215112 . FAM74A1 . dist\x3d14868\x3bdist\x3d66987 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62550849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs273295 rs273295 rs273295 rs273295 1 1538 10 1/0 0,255,255 +. (chr9:39886590 A/C) 9 39886590 A C Not on a known gene +rs77864731 (chr9:40293075 T/C) 9 40293075 T C Not on a known gene +rs77921801 (chr9:40293086 G/T) 9 40293086 G T Not on a known gene +. 9 40703510 G A - SPATA31A3 32003 SPATA31 subfamily A, member 3 NM_001083124.1 1 4223 4044 NP_001076593.1 Q5VYP0 substitution synonymous exon GRCh37 40703510 40703510 Chr9(GRCh37):g.40703510G>A 1167 1167 NM_001083124.1:c.1167G>A p.Ser389= p.Ser389Ser 4 859 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5426901 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.000 0.125 S Ser TCG 0.056 S Ser TCA 0.148 389 255 PASS . . . . . . . . . . . ENSG00000147926:ENST00000356699:exon4:c.G1167A:p.S389S SPATA31A3:uc010mmj.3:exon4:c.G1167A:p.S389S SPATA31A3:NM_001083124:exon4:c.G1167A:p.S389S . . 0.40384614 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S389|SPATA31A3|mRNA|CODING|NM_001083124|NM_001083124.ex.4) . . . . . . . -0.1002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000147926 SPATA31A3 SPATA31A3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs71223787 (chr9:41321624 C/T) 9 41321624 C T Not on a known gene +. (chr9:41322396 G/A) 9 41322396 G A Not on a known gene +. (chr9:41322454 C/G) 9 41322454 C G Not on a known gene +. (chr9:41324137 C/T) 9 41324137 C T Not on a known gene +. (chr9:41324616 G/A) 9 41324616 G A Not on a known gene +. (chr9:41424620 C/T) 9 41424620 C T Not on a known gene +. 9 41503160 T G - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41503160 41503160 Chr9(GRCh37):g.41503160T>G 432 432 NM_001113541.1:c.432T>G p.Asp144Glu p.Asp144Glu 4 124 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transversion T G T>G 0.000 -0.198 D Asp GAT 0.461 E Glu GAG 0.583 144 13 10 Cow 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Deleterious 0 III.46 bad 6.004E-5 0.0001151 255 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.T432G:p.D144E SPATA31A5:uc004abu.4:exon4:c.T432G:p.D144E . . . 0.44444445 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.128 . @ . . . . . 1 0.378 . . 27.0 . . . . . . . . . . -0.9571 -1.130 -0.957 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.100 @ . . . 0.37 0.34 182 ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.035 . . . . T 0.036 0.002 . . 37 . 0.094 . . 0.324 . . . 0.646 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.324 . . 0.386 . . . . . . 0 . . . . . . 0.042 . 0.232 . HET 0.35 . . . . . . . . . . . . . II.77 . ENST00000377621 I.82 -0.874 . 0.200000 Q5VU36 . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.203 -0.203000 . . 0.200000 . . 1.0E-255 0.000 0.063 . 0.095 0.035 . 0.105 . 0.283 -0.203 0.397 . rs12552679 rs12552679 rs12552679 rs12552679 1 1538 10 1/0 0,255,255 +. 9 41503416 C T - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41503416 41503416 Chr9(GRCh37):g.41503416C>T 688 688 NM_001113541.1:c.688C>T p.Arg230Trp p.Arg230Trp 4 380 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -1.247 R Arg CGG 0.207 W Trp TGG 1.000 230 13 6 White-tuffed-ear marmoset -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.03 III.39 good 2.696E-1 0.5058 255 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.C688T:p.R230W SPATA31A5:uc004abu.4:exon4:c.C688T:p.R230W . . . 0.9137931 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.325 . @ . . . . . 1 0.063 . . 58.0 . . . . . . . . . . -1.5045 -1.666 -1.505 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.049 @ . . . 0.39 0.29 182 ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.086 . . . . T 0.056 0.003 . . 37 . 0.052 . . 0.408 . . . 0.666 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.119 . . 0.040 . . . . . . 0 . . . . . . 0.038 . 0.219 . HOM 0.06 . . . . . . . . . . . . . II.39 . ENST00000377621 I.56 -3.12 . 0.120000 Q5VU36 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.247 -1.247000 . . 0.120000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.022 . 0.006 -1.247 0.356 . rs3873866 rs3873866 rs3873866 rs3873866 1 1538 10 1/0 0,255,255 +. 9 41503895 G A - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution synonymous exon GRCh37 41503895 41503895 Chr9(GRCh37):g.41503895G>A 1167 1167 NM_001113541.1:c.1167G>A p.Ser389= p.Ser389Ser 4 859 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transition G A G>A 0.000 0.205 S Ser TCG 0.056 S Ser TCA 0.148 389 244 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.G1167A:p.S389S SPATA31A5:uc004abu.4:exon4:c.G1167A:p.S389S . . . 0.29268292 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.1156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000233788 SPATA31A5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 41505578 G C - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41505578 41505578 Chr9(GRCh37):g.41505578G>C 2850 2850 NM_001113541.1:c.2850G>C p.Glu950Asp p.Glu950Asp 4 2542 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transversion G C G>C 0.000 -1.005 E Glu GAG 0.583 D Asp GAC 0.539 950 13 9 Cow 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.09 III.32 good 4.528E-2 0.02691 203 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.G2850C:p.E950D SPATA31A5:uc004abu.4:exon4:c.G2850C:p.E950D . . . 0.16923077 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.165 . @ . . . . . 1 0.227 . . 65.0 . . . . . . . . . . -1.1773 -1.342 -1.177 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.044 @ . . . . . . ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.215 . . . . T 0.024 0.002 . . 37 . 0.070 . . 0.305 . . . 0.476 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.336 . . 0.272 . . . . . . 0 . . . . . . 0.002 . 0.047 . HET 0.24 . . . . . . . . . . . . . 0.2303 . ENST00000377621 I.76 -3.52 . 0.440000 Q5VU36 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.013 -1.013000 . . 0.440000 . . 1.0E-203 0.000 0.063 . 0.108 0.050 . 0.057 . 0.283 -1.013 0.345 . . . . . 1 1538 10 1/0 0,251,255 +. 9 41505636 C T - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41505636 41505636 Chr9(GRCh37):g.41505636C>T 2908 2908 NM_001113541.1:c.2908C>T p.Leu970Phe p.Leu970Phe 4 2600 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transition C T C>T 0.000 -0.521 L Leu CTC 0.197 F Phe TTC 0.546 970 13 5 Northern white-cheeked gibbon 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.2 III.48 good 7.599E-1 0.2962 201 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.C2908T:p.L970F SPATA31A5:uc004abu.4:exon4:c.C2908T:p.L970F . . . 0.16216215 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.265 . @ . . . . . 1 0.223 . . 74.0 . . . . . . . . . . -0.6338 -0.905 -0.634 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.068 @ . . . . . . ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.074 . . 0.239 . . . 0.498 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.559 . . 0.524 . . . . . . 0 . . . . . . 0.105 . 0.029 . HET 0.36 . . . . . . . . . . . . . IV.22 . ENST00000377621 1.XII -2.09 . 0.060000 Q5VU36 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.531 -0.531000 . . 0.060000 . . 1.0E-201 0.001 0.137 . 0.074 0.311 . 0.044 . 0.053 -0.531 0.057 . . . . . 1 1538 10 1/0 0,245,255 +. 9 41505760 A G - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41505760 41505760 Chr9(GRCh37):g.41505760A>G 3032 3032 NM_001113541.1:c.3032A>G p.Asn1011Ser p.Asn1011Ser 4 2724 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transition A G A>G 0.000 -0.117 N Asn AAT 0.464 S Ser AGT 0.149 1011 13 1 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 1 III.32 good 9.996E-1 0.01984 174 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.A3032G:p.N1011S SPATA31A5:uc004abu.4:exon4:c.A3032G:p.N1011S . . . 0.102564104 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.166 . @ . . . . . 1 0.002 . . 78.0 . . . . . . . . . . -1.8882 -1.848 -1.888 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.168 @ . . . 0.43 0.35 182 ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . T 0.015 0.001 . . 37 . 0.010 . . 0.451 . . . 0.006 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 . . . . . . 0.096 . 0.004 . LowAF 1 . . . . . . . . . . . . . 4.1333 . ENST00000377621 I.57 0.624 . 1.000000 Q5VU36 . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.100 -0.100000 . . 1.000000 . . 1.0E-174 0.004 0.165 . 0.132 0.051 . 0.108 . 0.089 -0.100 -1.800 . rs2259759 rs2259759 rs2259759 rs2259759 1 1538 10 1/0 0,237,255 +. 9 41506502 C T - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution synonymous exon GRCh37 41506502 41506502 Chr9(GRCh37):g.41506502C>T 3774 3774 NM_001113541.1:c.3774C>T p.His1258= p.His1258His 4 3466 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transition C T C>T 0.012 0.125 H His CAC 0.587 H His CAT 0.413 1258 244 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.C3774T:p.H1258H SPATA31A5:uc004abu.4:exon4:c.C3774T:p.H1258H . . . 0.2857143 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.2309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.3 182 ENSG00000233788 SPATA31A5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs2762364 rs2762364 rs2762364 rs2762364 1 1538 10 1/0 0,241,255 +rs7047882 9 42019010 A G - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019010 42019010 Chr9(GRCh37):g.42019010A>G 575 575 NR_003670.1:n.575T>C 1 -83 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs7047882 no no 0 0.000000 0 transition T C T>C 0.217 0.125 255 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.T400C:p.W134R . . . 0.6551724 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . . . . . . . . . -0.0068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.77 0.34 182 ENSG00000204837 KGFLP2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7047882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7047882 rs7047882 rs7047882 rs7047882 1 1538 10 1/0 0,255,255 +. 9 42019113 G A - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019113 42019113 Chr9(GRCh37):g.42019113G>A 472 472 NR_003670.1:n.472C>T 1 -186 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 transition C T C>T 0.035 0.205 255 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.C297T:p.Y99Y . . . 0.3409091 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 44.0 . . . . . . . . . . -0.1226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.45 0.19 182 ENSG00000204837 KGFLP2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3206882 rs3206882 rs3206882 rs3206882 1 1538 10 1/0 0,255,255 +rs62536437 9 42019142 G C - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019142 42019142 Chr9(GRCh37):g.42019142G>C 443 443 NR_003670.1:n.443C>G 1 -215 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs62536437 no no 0 0.000000 0 transversion C G C>G 0.035 0.205 255 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.C268G:p.R90G . . . 0.5416667 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . . . . . . . . . -0.1192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.76 0.22 182 ENSG00000204837 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62536437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3123357 rs3123357 rs3123357 rs3123357 1 1538 10 1/0 0,255,255 +. 9 42019302 A C - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019302 42019302 Chr9(GRCh37):g.42019302A>C 283 283 NR_003670.1:n.283T>G 1 -375 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion T G T>G 0.031 -1.570 255 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.T108G:p.G36G . . . 0.63461536 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 52.0 . . . . . . . . . . -0.5662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.65 0.27 182 ENSG00000204837 KGFLP2 KGFLP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7044437 rs7044437 rs7044437 rs7044437 1 1538 10 1/0 0,255,255 +. 9 42019327 G T - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019327 42019327 Chr9(GRCh37):g.42019327G>T 258 258 NR_003670.1:n.258C>A 1 -400 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 transversion C A C>A 0.228 0.205 214 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.C83A:p.A28E . . . 0.2 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000204837 KGFLP2 KGFLP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 42019384 C A - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019384 42019384 Chr9(GRCh37):g.42019384C>A 201 201 NR_003670.1:n.201G>T 1 -457 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 Cryptic Acceptor Strongly Activated 42019379 0.047145 0.798839 0.56728 transversion G T G>T 0.280 0.205 190 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 51.0 . . . . . . . . . . 0.1020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.62 0.27 182 ENSG00000204837 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs10907974 rs10907974 rs10907974 rs10907974 1 1538 10 1/0 0,255,255 +. 9 42372165 G A - ANKRD20A2 31979 Ankyrin repeat domain 20 family, member A2 NM_001012421.1 1 3511 2472 NP_001012421.1 Q5SQ80 substitution intron GRCh37 42372165 42372165 Chr9(GRCh37):g.42372165G>A 319-37 319-37 NM_001012421.1:c.319-37G>A p.? p.? 3 2 -37 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 New Acceptor Site 42372167 6.73286 0.166964 79.906 transition G A G>A 0.000 -1.167 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.3829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000183148 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs4929513 9 42372195 C T - ANKRD20A2 31979 Ankyrin repeat domain 20 family, member A2 NM_001012421.1 1 3511 2472 NP_001012421.1 Q5SQ80 substitution intron GRCh37 42372195 42372195 Chr9(GRCh37):g.42372195C>T 319-7 319-7 NM_001012421.1:c.319-7C>T p.? p.? 3 2 -7 3' 72.3891 2.15552 0.001267 0 73.8997 2.84267 0.001839 0 0.263704 Cryptic Acceptor Strongly Activated 42372202 2.15552 0.001267 72.3891 2.84267 0.001839 73.8997 rs4929513 no no 0 C 0.000000 0 0.000574 0.003256 0.000000 0.000000 0.000398 0.000000 0.000000 0.000000 0.000000 0.003256 12 11 0 0 1 0 0 0 0 20918 3378 2952 436 2510 3204 7362 518 558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 11 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.044 242 PASS . . . . . . . . . . . . . . . . 0.28333333 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.0730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.34 182 ENSG00000183148 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4929513 . . . . . . . . . . . . . . . . . . . . 0 0.046 . . . . . . . 0 5.427e-05 0 0 0.0004 0 0 0 0 0.0104 0.0044 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs4929513 rs4929513 rs4929513 rs4929513 1 1538 10 1/0 0,255,255 +rs4116568 9 42372265 C T - ANKRD20A2 31979 Ankyrin repeat domain 20 family, member A2 NM_001012421.1 1 3511 2472 NP_001012421.1 Q5SQ80 substitution missense exon GRCh37 42372265 42372265 Chr9(GRCh37):g.42372265C>T 382 382 NM_001012421.1:c.382C>T p.Leu128Phe p.Leu128Phe 3 64 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Cryptic Acceptor Strongly Activated 42372271 2.04861 6.7e-05 67.0523 3.54248 9.5e-05 69.1556 Ankyrin repeat Ankyrin repeat-containing domain rs4116568 no no 0 C 0.000000 0 0.000635 0.003489 0.000347 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003489 14 13 1 0 0 0 0 0 0 22054 3726 2886 500 2648 3122 7920 640 612 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 13 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6374167 Thyroid 0.001339 747 transition C T C>T 0.000 -1.247 L Leu CTT 0.129 F Phe TTT 0.454 128 12 10 Zebrafish 1 0 0 0 0 4.IX 5.II 111 132 22 C0 30.92 21.28 Deleterious 0.03 II.68 good 8.733E-1 0.3506 255 PASS . . . . . . . . . . . ENSG00000183148:ENST00000377601:exon3:c.C382T:p.L128F . . . . 0.3292683 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.371 . @ . . . . . 1 0.622 . . 82.0 . . . . . . . . . . -1.3682 -1.613 -1.368 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.683 . . exonic exonic exonic . . 0.031 @ . . . 0.27 0.22 182 ENSG00000183148 ANKRD20A3 . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.391 0.017 . . 37 . 0.542 . . 0.415 . . . 0.502 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.534 . . 0 0 0 0 0 0 . 0.409 . . 0.354 . . . . . . 0 0.379 . . . . . 0.154 . 0.044 . HET 0.09 rs4116568 . . . . . . . . . . . . V.91 . ENST00000377601 II.31 -4.62 . 0.140000 . . . . . . 0.040 . . . 0 5.243e-05 0.0004 0 0 0 0 0 0 0.0101 0.0044 0 0 0 0 0 0 . . 0.246 . -1.885 -1.885000 . . 0.140000 . . 1.0E-255 0.001 0.137 . 0.043 0.007 . 0.070 . 0.009 -1.885 -0.974 . rs28600702 rs28600702 rs4116568 rs28600702 1 1538 10 1/0 0,255,255 +. 9 42372308 A G - ANKRD20A2 31979 Ankyrin repeat domain 20 family, member A2 NM_001012421.1 1 3511 2472 NP_001012421.1 Q5SQ80 substitution missense exon GRCh37 42372308 42372308 Chr9(GRCh37):g.42372308A>G 425 425 NM_001012421.1:c.425A>G p.Tyr142Cys p.Tyr142Cys 3 -68 5' 72.3493 7.98261 0.586567 3.09002 72.3493 7.98261 0.586567 3.47884 0 Cryptic Donor Strongly Activated 42372303 3.6e-05 48.0325 2.17887 0.020206 60.184 Ankyrin repeat Ankyrin repeat-containing domain 0.000216 0.000000 0.000000 0.000000 0.000000 0.001077 0.000163 0.000000 0.000000 0.001077 4 0 0 0 0 3 1 0 0 18550 3500 2608 376 2174 2786 6144 450 512 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -2.700 Y Tyr TAT 0.438 C Cys TGT 0.448 142 12 5 American pika -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 234.48 0.00 Tolerated 0.16 II.68 good 5.39E-1 0.5624 204 PASS . . . . . . . . . . . ENSG00000183148:ENST00000377601:exon3:c.A425G:p.Y142C . . . . 0.17142858 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.219 . . 70.0 . . . . . . . . . . -1.4725 -1.660 -1.473 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.638 . . exonic exonic exonic . . 0.031 @ . . . . . . ENSG00000183148 ANKRD20A3 . . . . 0.002 0.090 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.093 0.004 . . 37 . 0.478 . . 0.178 . . . 0.255 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.857 . . 0 0 0 0 0 0 . 0.112 . . 0.063 . . . . . . 0 0.265 . . . . . 0.093 . 0.084 . HET 0.03 . . . . . . . . . . . . . 4.0637 . ENST00000377601 II.31 -4.63 . 0.160000 . . . . . . 0.021 . . . 0 0.0003 0 0 0 0 0.0002 0 0.0011 0 0 0 0 0 0 0 0 . . 0.246 . -2.646 -2.646000 . . 0.160000 . . 1.0E-204 0.000 0.063 . 0.043 0.001 . 0.010 . 0.061 -2.646 -0.531 . . . . . 1 1538 10 1/0 0,248,255 +. (chr9:42419052 T/G) 9 42419052 T G Not on a known gene +. (chr9:42419088 G/A) 9 42419088 G A Not on a known gene +. (chr9:42419110 G/A) 9 42419110 G A Not on a known gene +rs7874545 (chr9:42671895 A/G) 9 42671895 A G No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42671960 C/G) 9 42671960 C G No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42671981 G/GT) 9 42671981 G GT No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42673586 G/A) 9 42673586 G A No Alamut gene - other known genes: CBWD7 CBWD7 +rs879948307 (chr9:42681193 A/G) 9 42681193 A G No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42681216 G/C) 9 42681216 G C No Alamut gene - other known genes: CBWD7 CBWD7 +rs12555584 (chr9:42681249 G/A) 9 42681249 G A No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42681269 TAA/T) 9 42681269 TAA T No Alamut gene - other known genes: CBWD7 CBWD7 +rs62553057 (chr9:42681362 C/A) 9 42681362 C A No Alamut gene - other known genes: CBWD7 CBWD7 +rs3000522 (chr9:42681376 G/A) 9 42681376 G A No Alamut gene - other known genes: CBWD7 CBWD7 +rs3000521 (chr9:42681381 G/A) 9 42681381 G A No Alamut gene - other known genes: CBWD7 CBWD7 +rs12375938 (chr9:42681387 A/C) 9 42681387 A C No Alamut gene - other known genes: CBWD7 CBWD7 +rs1756497 (chr9:42704030 G/T) 9 42704030 G T No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42712595 G/T) 9 42712595 G T No Alamut gene - other known genes: CBWD7 CBWD7 +rs879970493 (chr9:42712743 G/A) 9 42712743 G A No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42712776 A/G) 9 42712776 A G No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42714027 C/T) 9 42714027 C T No Alamut gene - other known genes: CBWD7 CBWD7 +rs62550305 (chr9:42718036 A/G) 9 42718036 A G Not on a known gene +rs9776578 (chr9:42718072 C/A) 9 42718072 C A Not on a known gene +. (chr9:42718200 G/A) 9 42718200 G A Not on a known gene +rs4929761 (chr9:42718314 T/C) 9 42718314 T C Not on a known gene +rs4929762 (chr9:42718394 C/G) 9 42718394 C G Not on a known gene +. (chr9:42718563 C/T) 9 42718563 C T Not on a known gene +. (chr9:42718806 G/A) 9 42718806 G A Not on a known gene +rs62550309 (chr9:42718892 G/C) 9 42718892 G C Not on a known gene +rs62550310 (chr9:42718904 G/C) 9 42718904 G C Not on a known gene +. (chr9:42719232 C/T) 9 42719232 C T Not on a known gene +. (chr9:42751726 T/C) 9 42751726 T C Not on a known gene +. (chr9:42751854 A/G) 9 42751854 A G Not on a known gene +rs200221725 (chr9:42751972 C/T) 9 42751972 C T Not on a known gene +. (chr9:42751987 C/T) 9 42751987 C T Not on a known gene +. (chr9:42751988 C/T) 9 42751988 C T Not on a known gene +. (chr9:42752014 A/C) 9 42752014 A C Not on a known gene +rs62554164 (chr9:42752064 T/C) 9 42752064 T C Not on a known gene +. (chr9:42808981 T/G) 9 42808981 T G Not on a known gene +rs2921282 (chr9:42808999 T/G) 9 42808999 T G Not on a known gene +. (chr9:43075476 C/G) 9 43075476 C G Not on a known gene +. (chr9:43082823 T/C) 9 43082823 T C Not on a known gene +. (chr9:43082850 A/C) 9 43082850 A C Not on a known gene +. (chr9:43082853 A/T) 9 43082853 A T Not on a known gene +. 9 43091410 T C - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091410 43091410 Chr9(GRCh37):g.43091410T>C 2414 2414 NM_001012419.2:c.2414A>G p.Glu805Gly p.Glu805Gly 15 917 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 COSM4386318|COSM4386318 Large intestine|Haematopoietic and lymphoid tissue 0.000450|0.000283 2220|3530 transition A G A>G 1.000 1.577 E Glu GAA 0.417 G Gly GGA 0.246 805 12 8 Tetraodon -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 253.47 0.00 Deleterious 0.03 II.67 210 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.A2414G:p.E805G . . . . 0.1923077 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 26.0 . . . . . . . . . . 0.0811 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 . . . . . . . . . . . . . VII.33 . ENST00000254835 I.95 I.95 . 0.030000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.893 0.893000 . . 0.030000 . . 1.0E-210 . . . . . . . . . 0.893 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43091467 A G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091467 43091467 Chr9(GRCh37):g.43091467A>G 2357 2357 NM_001012419.2:c.2357T>C p.Met786Thr p.Met786Thr 15 860 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 transition T C T>C 0.236 0.448 M Met ATG 1.000 T Thr ACG 0.116 786 12 3 Northern white-cheeked gibbon -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 353.86 0.00 Tolerated 0.78 II.67 244 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.T2357C:p.M786T . . . . 0.29268292 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 41.0 . . . . . . . . . . -1.0382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.32 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . IV.48 . ENST00000254835 I.95 0.728 . 0.190000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.043 0.043000 . . 0.190000 . . 1.0000000000000001E-244 . . . . . . . . . 0.043 . . . . rs79236439 rs79236439 1 1538 10 1/0 0,255,255 +rs62552310 9 43091509 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091509 43091509 Chr9(GRCh37):g.43091509C>T 2315 2315 NM_001012419.2:c.2315G>A p.Gly772Glu p.Gly772Glu 15 818 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs62552310 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.764 0.448 G Gly GGA 0.246 E Glu GAA 0.417 772 12 3 Northern white-cheeked gibbon -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 1 II.67 196 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.G2315A:p.G772E . . . . 0.14925373 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 67.0 . . . . . . . . . . -1.0673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.24 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.85 rs62552310 . . . . . . . . . . . . IV.02 1.0 ENST00000254835 I.95 0.736 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.046 0.046000 . . 1.000000 . . 1.0E-196 . . . . . . . . . 0.046 . . rs62552310 rs62552310 rs62552310 rs62552310 1 1538 10 1/0 0,248,255 +. 9 43091545 A G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091545 43091545 Chr9(GRCh37):g.43091545A>G 2279 2279 NM_001012419.2:c.2279T>C p.Ile760Thr p.Ile760Thr 15 782 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 Cryptic Donor Strongly Activated 43091544 0.298058 0.040953 66.3502 1.81225 0.130831 65.9471 COSM6375110 Thyroid 0.001339 747 transition T C T>C 0.921 -0.037 I Ile ATA 0.163 T Thr ACA 0.280 760 12 3 Northern white-cheeked gibbon -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.47 II.67 253 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.T2279C:p.I760T . . . . 0.31578946 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 76.0 . . . . . . . . . . -1.1539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.28 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.47 . . . . . . . . . . . . . V.16 . ENST00000254835 I.95 -0.134 . 0.990000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.147 0.147000 . . 0.990000 . . 1.0E-253 . . . . . . . . . 0.147 . . rs2207456 rs2207456 rs2207456 rs2207456 1 1538 10 1/0 0,255,255 +. 9 43091789 G A - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091789 43091789 Chr9(GRCh37):g.43091789G>A 2035 2035 NM_001012419.2:c.2035C>T p.Arg679Cys p.Arg679Cys 15 538 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 COSM6391183 Thyroid 0.001339 747 transition C T C>T 0.118 1.900 R Arg CGT 0.082 C Cys TGT 0.448 679 12 4 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0.01 II.67 201 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.C2035T:p.R679C . . . . 0.1641791 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 67.0 . . . . . . . . . . -0.5034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.26 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.08 . . . . . . . . . . . . . IX.22 . ENST00000254835 I.95 I.95 . 0.040000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.081 1.081000 . . 0.040000 . . 1.0E-201 . . . . . . . . . 1.081 . . rs4055530 rs4055530 rs4055530 rs4055530 1 1538 10 1/0 0,249,255 +. 9 43091807 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091807 43091807 Chr9(GRCh37):g.43091807C>T 2017 2017 NM_001012419.2:c.2017G>A p.Ala673Thr p.Ala673Thr 15 520 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 COSM5427930 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.354 0.448 A Ala GCC 0.403 T Thr ACC 0.361 673 12 3 Dog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.39 II.67 215 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.G2017A:p.A673T . . . . 0.2 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 55.0 . . . . . . . . . . -1.8657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.27 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.45 . . . . . . . . . . . . . V.03 . ENST00000254835 I.95 0.709 . 0.880000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.025 0.025000 . . 0.880000 . . 1.0E-215 . . . . . . . . . 0.025 . . rs2982939 rs2982939 rs2982939 rs2982939 1 1538 10 1/0 0,255,255 +. 9 43093547 C G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43093547 43093547 Chr9(GRCh37):g.43093547C>G 1447 1447 NM_001012419.2:c.1447G>C p.Val483Leu p.Val483Leu 14 -51 5' 78.8877 6.14623 0.981474 0.492367 78.8877 6.14623 0.981474 0.589184 0 Cryptic Acceptor Strongly Activated 43093541 0.424369 0.001201 66.0635 1.08794 0.02234 69.8473 COSM5424138|COSM5424138 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.001133 747|3530 transversion G C G>C 0.000 0.125 V Val GTT 0.178 L Leu CTT 0.129 483 12 4 Zebrafish 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.73 II.67 242 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon14:c.G1447C:p.V483L . . . . 0.2857143 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . -1.3476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.33 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . 4.0875 . ENST00000254835 I.95 0.981 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.134 0.134000 . . 1.000000 . . 1.0E-242 . . . . . . . . . 0.134 . . rs2982946 rs2982946 rs2982946 rs2982946 1 1538 10 1/0 0,255,255 +. 9 43124348 G T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43124348 43124348 Chr9(GRCh37):g.43124348G>T 682 682 NM_001012419.2:c.682C>A p.Gln228Lys p.Gln228Lys 5 -56 5' 87.5573 9.72159 0.994436 3.11081 87.5573 9.72159 0.994436 2.41429 0 Ankyrin repeat-containing domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3685778 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 0.000 -0.602 Q Gln CAA 0.256 K Lys AAA 0.425 228 12 4 Frog 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 243.92 0.00 Tolerated 1 II.67 255 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.C682A:p.Q228K . . . . 0.35 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 20.0 . . . . . . . . . . -1.1704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.19 . . . . . . . . . . . . . II.94 0.1875 ENST00000254835 I.22 -2.44 . 1.000000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -1.078 -1.078000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.078 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43124351 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43124351 43124351 Chr9(GRCh37):g.43124351C>T 679 679 NM_001012419.2:c.679G>A p.Ala227Thr p.Ala227Thr 5 -59 5' 87.5573 9.72159 0.994436 3.11081 87.5573 9.72159 0.994436 2.68385 0 Cryptic Acceptor Strongly Activated 43124344 1.55131 0.075012 77.5156 1.73001 0.085972 77.5156 Ankyrin repeat Ankyrin repeat-containing domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 50719 Exomes transition G A G>A 0.000 -2.539 A Ala GCT 0.263 T Thr ACT 0.243 227 12 2 Chimp 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 272.33 0.00 Tolerated 0.6 II.67 255 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.G679A:p.A227T . . . . 0.36842105 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 19.0 . . . . . . . . . . -1.6675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . 0.6302 . ENST00000254835 I.22 -2.44 . 0.760000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -2.490 -2.490000 . . 0.760000 . . 1.0E-255 . . . . . . . . . -2.490 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43124408 A G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43124408 43124408 Chr9(GRCh37):g.43124408A>G 622 622 NM_001012419.2:c.622T>C p.Tyr208His p.Tyr208His 5 23 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.98568 2.91823 0 Ankyrin repeat Ankyrin repeat-containing domain transition T C T>C 0.043 -1.005 Y Tyr TAC 0.562 H His CAC 0.587 208 12 3 Frog 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 275.98 0.00 Tolerated 0.55 II.67 250 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.T622C:p.Y208H . . . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 22.0 . . . . . . . . . . -1.7730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.57 . . . . . . . . . . . . . 2.0938 . ENST00000254835 I.22 -2.44 . 0.530000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.558 -1.558000 . . 0.530000 . . 1.0E-250 . . . . . . . . . -1.558 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43124411 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43124411 43124411 Chr9(GRCh37):g.43124411C>T 619 619 NM_001012419.2:c.619G>A p.Val207Ile p.Val207Ile 5 20 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.986758 2.1248 0.000364554 Ankyrin repeat Ankyrin repeat-containing domain COSM2155400 Central nervous system 0.000424 2361 transition G A G>A 0.500 0.044 V Val GTA 0.114 I Ile ATA 0.163 207 12 2 Chimp 3 3 4 0 0 5.IX 5.II 84 111 29 C0 273.19 0.00 Tolerated 0.41 II.67 255 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.G619A:p.V207I . . . . 0.3478261 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 23.0 . . . . . . . . . . -0.9702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.38 . . . . . . . ID\x3dCOSM2155400\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . III.85 . ENST00000254835 I.22 0.172 . 0.430000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.139 -0.139000 . . 0.430000 . . 1.0E-255 . . . . . . . . . -0.139 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43124424 A G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution synonymous exon GRCh37 43124424 43124424 Chr9(GRCh37):g.43124424A>G 606 606 NM_001012419.2:c.606T>C p.Ala202= p.Ala202Ala 5 7 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.985908 2.75053 7.71041e-05 Ankyrin repeat Ankyrin repeat-containing domain transition T C T>C 0.791 -1.489 A Ala GCT 0.263 A Ala GCC 0.403 202 233 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.T606C:p.A202A . . . . 0.2631579 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.7591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs746425063 9 43129534 T C - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43129534 43129534 Chr9(GRCh37):g.43129534T>C 425 425 NM_001012419.2:c.425A>G p.Tyr142Cys p.Tyr142Cys 3 -68 5' 72.3493 7.98261 0.586567 3.09002 72.3493 7.98261 0.586567 3.47884 0 Cryptic Donor Strongly Activated 43129539 3.6e-05 48.0325 2.17887 0.020206 60.184 Ankyrin repeat Ankyrin repeat-containing domain rs746425063 yes no Frequency 1 T 0.000000 0 0.004768 0.004167 0.004098 0.000000 0.000000 0.009709 0.004386 0.000000 0.000000 0.009709 8 1 1 0 0 4 2 0 0 1678 240 244 26 120 412 456 112 68 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 0 0 4 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.893 Y Tyr TAT 0.438 C Cys TGT 0.448 142 12 5 American pika -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 234.48 0.00 Tolerated 0.16 II.67 195 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon3:c.A425G:p.Y142C . . . . 0.14666666 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 75.0 . . . . . . . . . . -1.6862 . . . . . . . . 1.733e-03 . . . . 0 . . . . . . . 0 . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.07 rs746425063 . . . . . . . . . . . . 4.0562 . ENST00000254835 I.95 -3.91 . 0.150000 . . . . . . . . . . 0 0.0055 0.0044 0 0 0 0 0 0.0097 0.0043 0.0039 0 0 0 0 0.0058 0 . . . . -1.683 -1.683000 . . 0.150000 . . 9.999999999999999E-196 . . . . . . . . . -1.683 . . . . . . 1 1538 10 1/0 0,243,255 +rs4055461 9 43129563 G A - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution synonymous exon GRCh37 43129563 43129563 Chr9(GRCh37):g.43129563G>A 396 396 NM_001012419.2:c.396C>T p.Tyr132= p.Tyr132Tyr 3 78 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Ankyrin repeat Ankyrin repeat-containing domain rs4055461 no no 0 G 0.000000 0 0.000306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000808 0.000000 0.000000 0.000808 1 0 0 0 0 0 1 0 0 3266 798 106 36 74 0 1238 874 140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 71 Genomes transition C T C>T 0.008 -3.023 Y Tyr TAC 0.562 Y Tyr TAT 0.438 132 181 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon3:c.C396T:p.Y132Y . . . . 0.11494253 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.8874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.32 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs4055461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4055461 rs4055461 rs4055461 rs4055461 1 1538 10 1/0 0,233,255 +. 9 43129589 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43129589 43129589 Chr9(GRCh37):g.43129589C>T 370 370 NM_001012419.2:c.370G>A p.Ala124Thr p.Ala124Thr 3 52 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Ankyrin repeat Ankyrin repeat-containing domain 0.000258 0.000579 0.000000 0.000000 0.000000 0.000000 0.000339 0.000000 0.000000 0.000579 2 1 0 0 0 0 1 0 0 7740 1728 418 80 270 492 2948 1530 274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6407201 Thyroid 0.001339 747 transition G A G>A 1.000 3.111 A Ala GCC 0.403 T Thr ACC 0.361 124 12 12 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C55 0.00 58.02 Deleterious 0 II.67 192 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon3:c.G370A:p.A124T . . . . 0.13953489 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 86.0 . . . . . . . . . . 0.1895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.03 . . . . . . . . . . . . . IX.22 . ENST00000254835 I.95 I.95 . 0.030000 . . . . . . . . . . 0 0 0 0 0 . 0 0 0 0.0006 0.0003 0 0 0 0 0.0003 0 . . . . 1.081 1.081000 . . 0.030000 . . 9.999999999999999E-193 . . . . . . . . . 1.081 . . . . . . 1 1538 10 1/0 0,236,255 +. 9 43129649 G A - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129649 43129649 Chr9(GRCh37):g.43129649G>A 319-9 319-9 NM_001012419.2:c.319-9C>T p.? p.? 3 2 -9 3' 72.3891 2.15552 0.001267 0 75.1009 2.01764 0.001842 0 0.142442 Cryptic Acceptor Weakly Activated 43129640 2.15552 0.001267 72.3891 2.01764 0.001842 75.1009 transition C T C>T 0.000 -0.117 203 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.4113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +. 9 43129659 G T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129659 43129659 Chr9(GRCh37):g.43129659G>T 319-19 319-19 NM_001012419.2:c.319-19C>A p.? p.? 3 2 -19 3' 72.3891 2.15552 0.001267 0 72.3891 1.44982 0.000856 0 -0.21726 transversion C A C>A 0.047 0.448 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . 0.3006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 9 43129663 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129663 43129663 Chr9(GRCh37):g.43129663C>T 319-23 319-23 NM_001012419.2:c.319-23G>A p.? p.? 3 2 -23 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 0.000274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000559 0.000000 0.000000 0.000559 4 0 0 0 0 0 4 0 0 14574 4058 264 138 528 0 7158 1960 468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 27 Genomes transition G A G>A 0.000 -0.763 199 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.6621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 9 43129674 T G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129674 43129674 Chr9(GRCh37):g.43129674T>G 319-34 319-34 NM_001012419.2:c.319-34A>C p.? p.? 3 2 -34 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 transversion A C A>C 0.000 -0.279 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . 0.1391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43129677 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129677 43129677 Chr9(GRCh37):g.43129677C>T 319-37 319-37 NM_001012419.2:c.319-37G>A p.? p.? 3 2 -37 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 New Acceptor Site 43129675 6.73286 0.166964 79.906 transition G A G>A 0.000 -0.521 205 PASS . . . . . . . . . . . . . . . . 0.17391305 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.4144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43133304 T C - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution synonymous exon GRCh37 43133304 43133304 Chr9(GRCh37):g.43133304T>C 129 129 NM_001012419.2:c.129A>G p.Lys43= p.Lys43Lys 1 -75 5' 72.2046 7.37531 0.863557 13.9582 72.2046 7.37531 0.863557 13.813 0 Ankyrin repeat-containing domain transition A G A>G 0.000 -0.924 K Lys AAA 0.425 K Lys AAG 0.575 43 142 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon1:c.A129G:p.K43K . . . . 0.115384616 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.5111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-142 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201333660 9 43624850 C T - SPATA31A6 32006 SPATA31 subfamily A, member 6 NM_001145196.1 -1 4214 4032 NP_001138668.1 Q5VVP1 substitution synonymous exon GRCh37 43624850 43624850 Chr9(GRCh37):g.43624850C>T 3837 3837 NM_001145196.1:c.3837G>A p.Arg1279= p.Arg1279Arg 4 3529 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 rs201333660 yes no Frequency 1 C 0.000000 0 0.000175 0.000110 0.000032 0.000119 0.000124 0.000037 0.000258 0.000255 0.000180 0.000258 41 2 1 1 2 1 28 5 1 234474 18258 30904 8384 16120 27086 108538 19634 5550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 2 1 1 2 1 28 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3848590 Breast 0.000410 2442 transition G A G>A 0.000 0.609 R Arg AGG 0.207 R Arg AGA 0.205 1279 206 PASS . . . . . . . . . . . ENSG00000185775:ENST00000332857:exon4:c.G3837A:p.R1279R SPATA31A6:uc011lrb.2:exon4:c.G3837A:p.R1279R SPATA31A6:NM_001145196:exon4:c.G3837A:p.R1279R . . 0.1754386 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R1279|SPATA31A6|mRNA|CODING|NM_001145196|NM_001145196.ex.4) . . . . . . . -0.0202 -0.181 -0.020 n . . . . . 7.480e-04 . . . 0.0009 0.0007 0 0.0011 0.0007 0.0010 0 0 0.0003 0.0008 0 0.0009 0.0008 0.0012 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.221 @ . . . 0.16 0.28 182 ENSG00000185775 SPATA31A6 SPATA31A6 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.147 . . . HET . rs201333660 . . . . . . ID\x3dCOSM3848590\x3bOCCURENCE\x3d1(breast) . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 3.307e-05 0 0.0001 0.0003 0.0003 0.0002 3.692e-05 0 8.441e-05 0 0.0049 0 0 8.543e-05 0 . . 0.133 . . . . . . . . 1.0E-206 0.000 0.063 . 0.043 . . 0.141 . 0.072 . . . . rs71223786 rs71223786 rs201333660 1 1538 10 1/0 0,227,255 +. 9 43625791 G A - SPATA31A6 32006 SPATA31 subfamily A, member 6 NM_001145196.1 -1 4214 4032 NP_001138668.1 Q5VVP1 substitution missense exon GRCh37 43625791 43625791 Chr9(GRCh37):g.43625791G>A 2896 2896 NM_001145196.1:c.2896C>T p.Leu966Phe p.Leu966Phe 4 2588 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 40344 4072 7590 978 6042 5058 14836 568 1200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes COSM5428006|COSM5428006 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition C T C>T 0.000 -1.167 L Leu CTC 0.197 F Phe TTC 0.546 966 13 5 Northern white-cheeked gibbon 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.2 III.49 good 7.601E-1 0.2967 239 PASS . . . . . . . . . . . ENSG00000185775:ENST00000332857:exon4:c.C2896T:p.L966F SPATA31A6:uc011lrb.2:exon4:c.C2896T:p.L966F SPATA31A6:NM_001145196:exon4:c.C2896T:p.L966F . . 0.27142859 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 140.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L966F|SPATA31A6|mRNA|CODING|NM_001145196|NM_001145196.ex.4) . . . . . . . -0.8981 -1.208 -0.898 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.061 @ . . . . . . ENSG00000185775 SPATA31A6 SPATA31A6 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.059 . . . HET 0.34 . . . . . . . . . . . . . 3.1046 . ENST00000332857 I.23 -2.46 . 0.050000 Q5VVP1 . . . . . . . . . 0 2.479e-05 0 0 0 0 6.74e-05 0 0 . . . . . . . . . . 0.246 . -1.224 -1.224000 . . 0.050000 . . 1.0E-239 0.001 0.137 . 0.203 . . 0.040 . 0.253 -1.224 . . . . . . 1 1538 10 1/0 0,228,255 +. 9 43625849 C G - SPATA31A6 32006 SPATA31 subfamily A, member 6 NM_001145196.1 -1 4214 4032 NP_001138668.1 Q5VVP1 substitution missense exon GRCh37 43625849 43625849 Chr9(GRCh37):g.43625849C>G 2838 2838 NM_001145196.1:c.2838G>C p.Glu946Asp p.Glu946Asp 4 2530 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000097 0.000000 0.000000 0.000097 1 0 0 0 0 0 1 0 0 27092 2710 4440 598 4040 3774 10334 416 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 48 Exomes transversion G C G>C 0.000 -0.117 E Glu GAG 0.583 D Asp GAC 0.539 946 13 9 Cow 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.09 III.32 good 4.529E-2 0.02693 233 PASS . . . . . . . . . . . ENSG00000185775:ENST00000332857:exon4:c.G2838C:p.E946D SPATA31A6:uc011lrb.2:exon4:c.G2838C:p.E946D SPATA31A6:NM_001145196:exon4:c.G2838C:p.E946D . . 0.25233644 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E946D|SPATA31A6|mRNA|CODING|NM_001145196|NM_001145196.ex.4) . . . . . . . -0.9989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185775 SPATA31A6 SPATA31A6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.5 . . . . . . . . . . . . . 1.1754 . ENST00000332857 II.44 -0.709 . 0.380000 Q5VVP1 . . . . . . . . . 0 3.691e-05 0 0 0 0 9.677e-05 0 0 . . . . . . . . . . . . -0.150 -0.150000 . . 0.380000 . . 1.0000000000000001E-233 . . . . . . . . . -0.150 . . . . . . 1 1538 10 1/0 0,238,255 +. 9 43800989 C T - CNTNAP3B 32035 Contactin associated protein-like 3B NM_001201380.2 1 6383 3867 NP_001188309.2 Q96NU0 substitution synonymous exon GRCh37 43800989 43800989 Chr9(GRCh37):g.43800989C>T 516 516 NM_001201380.2:c.516C>T p.Ile172= p.Ile172Ile 4 -23 5' 79.0462 8.65161 0.923968 3.49092 79.0462 8.65161 0.923968 2.88231 0 Coagulation factor 5/8 C-terminal type domain transition C T C>T 0.528 -1.893 I Ile ATC 0.481 I Ile ATT 0.356 172 236 PASS . . . . . . . . . . . . CNTNAP3B:uc004ada.2:exon4:c.C516T:p.I172I CNTNAP3B:NM_001201380:exon4:c.C516T:p.I172I . . 0.26666668 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.9001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.33 182 ENSG00000154529 CNTNAP3B CNTNAP3B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . IV.06 . ENST00000377561 II.54 -5.08 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.818 -1.818000 . . . . . 1.0E-236 . . . . . . . . . -1.818 . . rs4436169 rs4436169 rs4436169 rs4436169 1 1538 10 1/0 0,255,255 +. 9 43908492 C T - CNTNAP3B 32035 Contactin associated protein-like 3B NM_001201380.2 1 6383 3867 NP_001188309.2 Q96NU0 substitution synonymous exon GRCh37 43908492 43908492 Chr9(GRCh37):g.43908492C>T 3411 3411 NM_001201380.2:c.3411C>T p.Ala1137= p.Ala1137Ala 21 -32 5' 95.872 9.66448 0.996899 3.92933 95.872 9.66448 0.996899 3.85386 0 Laminin G, subdomain 2 Laminin G, subdomain 1 Laminin G domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3738 570 150 38 76 0 1430 1300 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 62 Genomes transition C T C>T 0.921 -1.005 A Ala GCC 0.403 A Ala GCT 0.263 1137 221 PASS . . . . . . . . . . . ENSG00000154529:ENST00000377564:exon21:c.C3411T:p.A1137A . CNTNAP3B:NM_001201380:exon21:c.C3411T:p.A1137A . . 0.2195122 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.4393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000154529 CNTNAP3B CNTNAP3B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 44991021 G A - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991021 44991021 Chr9(GRCh37):g.44991021G>A 294-62 294-62 NR_027421.1:n.294-62G>A p.? p.? 2 1 -62 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.19742 0 transition G A G>A 0.020 0.125 198 PASS . . . . . . . . . . . . . . . . 0.15686275 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.3435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 44991025 T C - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991025 44991025 Chr9(GRCh37):g.44991025T>C 294-58 294-58 NR_027421.1:n.294-58T>C p.? p.? 2 1 -58 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.043 0 transition T C T>C 0.016 0.125 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.4263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.77 0.31 182 ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs76196504 rs76196504 1 1538 10 1/0 0,255,255 +. 9 44991044 C G - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991044 44991044 Chr9(GRCh37):g.44991044C>G 294-39 294-39 NR_027421.1:n.294-39C>G p.? p.? 2 1 -39 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.53622 0 44991047 -20.2941 transversion C G C>G 0.004 -1.893 197 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.8282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.7 0.29 182 ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs76557206 rs76557206 1 1538 10 1/0 0,255,255 +. 9 44991066 A T - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991066 44991066 Chr9(GRCh37):g.44991066A>T 294-17 294-17 NR_027421.1:n.294-17A>T p.? p.? 2 1 -17 3' 82.7057 7.88334 0.967598 7.61998 82.7057 X.91 0.978318 XI.94 0.121483 44991066 -89.8529 transversion A T A>T 0.016 0.125 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.3592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 9 44991069 G A - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991069 44991069 Chr9(GRCh37):g.44991069G>A 294-14 294-14 NR_027421.1:n.294-14G>A p.? p.? 2 1 -14 3' 82.7057 7.88334 0.967598 7.61998 0 3.40141 0.969699 0 -0.52212 transition G A G>A 0.016 0.125 176 PASS . . . . . . . . . . . . . . . . 0.10714286 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.3571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 9 44991172 T C - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution exon GRCh37 44991172 44991172 Chr9(GRCh37):g.44991172T>C 383 383 NR_027421.1:n.383T>C 2 90 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 0.000076 0.000497 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000497 1 1 0 0 0 0 0 0 0 13106 2014 1932 230 1696 1762 4922 138 412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.020 0.044 233 PASS . . . . . . . . . . . ENSG00000154537:ENST00000377542:exon2:c.T168C:p.D56D . . . . 0.25454545 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M128T|FAM27C|Non-coding_transcript|NON_CODING|NR_027421|NR_027421.ex.2) . . . . . . . -0.3480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 7.63e-05 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 44991183 T C - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution exon GRCh37 44991183 44991183 Chr9(GRCh37):g.44991183T>C 394 394 NR_027421.1:n.394T>C 2 101 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 transition T C T>C 0.039 0.044 228 PASS . . . . . . . . . . . ENSG00000154537:ENST00000377542:exon2:c.T179C:p.F60S . . . . 0.24074075 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.370 . @ . . . . . 1 0.121 . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F132L|FAM27C|Non-coding_transcript|NON_CODING|NR_027421|NR_027421.ex.2) . . . . . . . -0.7453 -0.993 -0.745 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . D 0.974 0.682 . . 37 . 0.388 . . 0.387 . . . . 0.090 . . . . . . . . . . . . . . . 0.895 . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . 0.488 . HET 0 . . . . . . . . . . . . . . . ENST00000377542 . . . 0.000000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.056 0.056000 . . 0.000000 . . 1.0E-228 0.003 0.159 . 0.083 . . 0.153 . 0.223 0.056 . . . . . . 1 1538 10 1/0 0,255,255 +rs879966354 (chr9:45727239 C/G) 9 45727239 C G No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs370952259 (chr9:45727266 C/T) 9 45727266 C T No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs373781881 (chr9:45727267 G/T) 9 45727267 G T No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs375773067 (chr9:45727296 G/A) 9 45727296 G A No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs368024883 (chr9:45727310 G/C) 9 45727310 G C No Alamut gene - other known genes: FAM27D1 FAM27D1 +. (chr9:45727326 G/T) 9 45727326 G T No Alamut gene - other known genes: FAM27D1 FAM27D1 +. (chr9:45727329 T/C) 9 45727329 T C No Alamut gene - other known genes: FAM27D1 FAM27D1 +. (chr9:45727821 C/T) 9 45727821 C T No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs782523495 (chr9:45727827 C/T) 9 45727827 C T No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs201293336 (chr9:45727963 T/C) 9 45727963 T C No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs199519979 (chr9:45727974 T/C) 9 45727974 T C No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs10796744 9 45733796 T C - FAM27E2 32013 Family with sequence similarity 27, member E2 NR_103714.1 1 1767 0 substitution exon GRCh37 45733796 45733796 Chr9(GRCh37):g.45733796T>C 580 580 NR_103714.1:n.580T>C 1 rs10796744 yes no Frequency/1000G 2 0.000000 0 0.077476 0.124800 0.038900 0.019800 0.108300 0.080700 0.001540 0.002479 0.000764 0.000856 0.001868 0.000081 0.002184 0.001411 0.001065 0.002479 157 20 11 4 18 1 83 17 3 101978 8068 14394 4674 9638 12334 38006 12048 2816 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000053 0.000000 0.000000 1 0 0 0 0 0 1 0 0 15 2 0 0 0 0 11 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -2.054 128 PASS . . . . . 0.12 0.077 0.081 0.02 0.11 0.039 ENSG00000204807:ENST00000377529:exon1:c.T209C:p.M70T . . . . 0.5263158 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.6920 . . . . . . . . 4.914e-04 . . . 0 0 0 0 0 0 0 0 0 0.0001 0 0.0037 0 0 0 0 nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . 0.3343 . . . 0.18 0.14 182 ENSG00000204807 . . . dist\x3d5513\x3bdist\x3d407768 dist\x3d728506\x3bdist\x3d383147 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 rs10796744 . . . . . . . . . . . . . . ENST00000377529 . . . 1.000000 . . . . . . . . . . 0 0.0004 0.0006 0.0009 0.0001 0.0006 0.0003 0.0005 8.108e-05 0.0046 0.0069 0.0039 0 0.0138 0.0047 0.0081 0.0032 . . . . -2.094 -2.094000 . . 1.000000 . . 1.0E-128 . . . . . . . . . -2.094 . . . . . . 1 1538 10 1/0 0,255,255 +rs57600753 (chr9:46202324 C/T) 9 46202324 C T Not on a known gene +rs10907974 9 46687658 G T - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687658 46687658 Chr9(GRCh37):g.46687658G>T 102 102 NR_047527.1:n.102G>T 1 -457 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 Cryptic Acceptor Strongly Activated 46687663 0.047145 0.798839 0.56728 rs10907974 no no 0 0.000000 0 transversion G T G>T 0.307 0.367 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . 0.1985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.69 0.26 182 . KGFLP1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.49 rs10907974 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs10907974 rs10907974 rs10907974 rs10907974 1 1538 10 1/0 0,251,255 +. 9 46687715 C A - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687715 46687715 Chr9(GRCh37):g.46687715C>A 159 159 NR_047527.1:n.159C>A 1 -400 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 transversion C A C>A 0.004 -0.844 216 PASS . . . . . . . . . . . . . . . . 0.20338982 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.3196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . . KGFLP1 KGFLP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs7044437 9 46687740 T G - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687740 46687740 Chr9(GRCh37):g.46687740T>G 184 184 NR_047527.1:n.184T>G 1 -375 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs7044437 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.000 -2.619 255 PASS . . . . . . . . . . . . . . . . 0.56666666 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.7974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.74 0.35 182 . KGFLP1 KGFLP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs7044437 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7044437 rs7044437 rs7044437 rs7044437 1 1538 10 1/0 0,255,255 +rs3123357 9 46687900 C G - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687900 46687900 Chr9(GRCh37):g.46687900C>G 344 344 NR_047527.1:n.344C>G 1 -215 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs3123357 no no 0 0.000000 0 transversion C G C>G 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3773585 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 53.0 . . . . . . . . . . -0.1041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.63 0.27 182 . KGFLP1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs3123357 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3123357 rs3123357 rs3123357 rs3123357 1 1538 10 1/0 0,255,255 +rs7037882 9 46687929 C T - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687929 46687929 Chr9(GRCh37):g.46687929C>T 373 373 NR_047527.1:n.373C>T 1 -186 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs7037882 no no 0 0.000000 0 transition C T C>T 0.016 0.367 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . 0.0028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.17 182 . KGFLP1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs7037882 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs3206882 rs3206882 rs3206882 rs3206882 1 1538 10 1/0 0,255,255 +. 9 46688032 T C - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46688032 46688032 Chr9(GRCh37):g.46688032T>C 476 476 NR_047527.1:n.476T>C 1 -83 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 transition T C T>C 0.075 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 24.0 . . . . . . . . . . -0.1681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.73 0.32 182 . KGFLP1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7047882 rs7047882 rs7047882 rs7047882 1 1538 10 1/0 0,255,255 +. (chr9:47304105 A/T) 9 47304105 A T Not on a known gene +. (chr9:47314188 G/C) 9 47314188 G C Not on a known gene +. (chr9:47314195 C/A) 9 47314195 C A Not on a known gene +. 9 65503462 T A - SPATA31A7 32007 SPATA31 subfamily A, member 7 NM_015667.2 -1 4223 4044 NP_056482.2 Q8IWB4 substitution 3'UTR GRCh37 65503462 65503462 Chr9(GRCh37):g.65503462T>A *54 *54 NM_015667.2:c.*54A>T p.? p.? 4 616584 3790 3' 83.1675 X.43 0.89416 8.54356 83.1675 X.43 0.89416 8.54356 0 transversion A T A>T 0.287 0.932 225 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . 0.0447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.48 0.76 182 ENSG00000234734 SPATA31A5 . ENST00000355045:c.*54A>T uc004adx.4:c.*54A>T NM_001113541:c.*54A>T\x3bNM_015667:c.*54A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs79988357 rs79988357 1 1538 10 1/0 0,255,255 +. 9 65503786 G A - SPATA31A7 32007 SPATA31 subfamily A, member 7 NM_015667.2 -1 4223 4044 NP_056482.2 Q8IWB4 substitution synonymous exon GRCh37 65503786 65503786 Chr9(GRCh37):g.65503786G>A 3774 3774 NM_015667.2:c.3774C>T p.His1258= p.His1258His 4 616584 3466 3' 83.1675 X.43 0.89416 8.54356 83.1675 X.43 0.89416 8.54356 0 transition C T C>T 0.004 -0.602 H His CAC 0.587 H His CAT 0.413 1258 243 PASS . . . . . . . . . . . ENSG00000234734:ENST00000355045:exon4:c.C3774T:p.H1258H SPATA31A5:uc004adx.4:exon4:c.C3774T:p.H1258H . . . 0.28440368 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.3283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.3 182 ENSG00000234734 SPATA31A5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . rs2762364 rs2762364 rs2762364 rs2762364 1 1538 10 1/0 0,239,255 +. (chr9:65591386 T/C) 9 65591386 T C Not on a known gene +. (chr9:65603121 G/C) 9 65603121 G C Not on a known gene +. (chr9:65657147 C/T) 9 65657147 C T Not on a known gene +. (chr9:65657160 C/T) 9 65657160 C T Not on a known gene +rs28445511 (chr9:65657247 T/G) 9 65657247 T G Not on a known gene +rs28699396 (chr9:65657398 T/A) 9 65657398 T A Not on a known gene +. 9 66457096 CTGA C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 deletion upstream GRCh37 66457097 66457099 Chr9(GRCh37):g.66457097_66457099del -192 -190 NR_121647.1:n.-192_-190del p.? p.? 1 -257 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Weakly Activated 66457116 7.08322 0.129103 82.9845 9.37751 0.141249 82.9845 TGA 255 Pass . . . . . . . . . . . . . . . . 0.10344828 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 174 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . . . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,99 +rs200733760 9 66457106 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457106 66457106 Chr9(GRCh37):g.66457106C>T -183 -183 NR_121647.1:n.-183C>T p.? p.? 1 -250 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Weakly Activated 66457116 7.08322 0.129103 82.9845 6.72301 0.262596 86.2672 rs200733760 no no 0 0.000000 0 transition C T C>T 0.114 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.4224599 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 187.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . 0.52 0.48 182 ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200733760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200733760 rs200733760 1 1538 10 1/0 0,224,244 +. 9 66457108 G T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457108 66457108 Chr9(GRCh37):g.66457108G>T -181 -181 NR_121647.1:n.-181G>T p.? p.? 1 -248 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Strongly Activated 66457116 7.08322 0.129103 82.9845 7.34557 0.43004 87.8664 transversion G T G>T 0.122 0.125 188 PASS . . . . . . . . . . . . . . . . 0.12972973 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 185.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs113087405 9 66457112 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457112 66457112 Chr9(GRCh37):g.66457112G>A -177 -177 NR_121647.1:n.-177G>A p.? p.? 1 -244 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs113087405 no no 0 0.000000 0 transition G A G>A 0.130 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15025906 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 193.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . 0.52 0.47 182 ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113087405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs113087405 rs113087405 1 1538 10 1/0 0,202,255 +rs73447819 9 66457127 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457127 66457127 Chr9(GRCh37):g.66457127G>A -162 -162 NR_121647.1:n.-162G>A p.? p.? 1 -229 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs73447819 no no 0 0.000000 0 transition G A G>A 0.087 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.6243094 . . @ 113 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 181.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . 0.49 0.43 182 ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73447819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73447819 rs73447819 rs73447819 1 1538 10 1/0 0,232,231 +rs796446320 9 66457128 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457128 66457128 Chr9(GRCh37):g.66457128C>T -161 -161 NR_121647.1:n.-161C>T p.? p.? 1 -228 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs796446320 no no 0 0.000000 0 transition C T C>T 0.091 0.125 190 PASS . . . . . . . . . . . . . . . . 0.13440861 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 186.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs796580270 9 66457129 A G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457129 66457129 Chr9(GRCh37):g.66457129A>G -160 -160 NR_121647.1:n.-160A>G p.? p.? 1 -227 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs796580270 no no 0 0.000000 0 transition A G A>G 0.091 0.125 191 PASS . . . . . . . . . . . . . . . . 0.13829787 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 188.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs777378053 9 66457139 C A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457139 66457139 Chr9(GRCh37):g.66457139C>A -150 -150 NR_121647.1:n.-150C>A p.? p.? 1 -217 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs777378053 no no 0 0.000000 0 transversion C A C>A 0.118 0.125 198 PASS . . . . . . . . . . . . . . . . 0.15306123 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 196.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs777378053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs78939328 9 66457151 G C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457151 66457151 Chr9(GRCh37):g.66457151G>C -138 -138 NR_121647.1:n.-138G>C p.? p.? 1 -205 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs78939328 no no 0 0.000000 0 transversion G C G>C 0.193 0.125 113 PASS . . . . . . . . . . . . . . . . 0.26288658 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 194.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . @ . . . 0.61 0.48 182 ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78939328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . . . rs78939328 rs78939328 1 1538 16 1/0 0,228,255 +. 9 66457169 AGAG A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 deletion upstream GRCh37 66457171 66457173 Chr9(GRCh37):g.66457171_66457173del -118 -116 NR_121647.1:n.-118_-116del p.? p.? 1 -183 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs138400587 no no 0 0.000000 0 AGG 255 Pass . . . . . . . . . . . . . . . . 0.27979276 . . . 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 193 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . . . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138400587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138400587 rs138400587 1 1538 10 1.I 0,10,55 +. 9 66457173 GGA G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 deletion upstream GRCh37 66457184 66457185 Chr9(GRCh37):g.66457184_66457185del -105 -104 NR_121647.1:n.-105_-104del p.? p.? 1 -171 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 GA 255 Pass . . . . . . . . . . . . . . . . 0.27513227 . . . 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 189 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . . . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,56 +rs768833405 9 66457178 G C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457178 66457178 Chr9(GRCh37):g.66457178G>C -111 -111 NR_121647.1:n.-111G>C p.? p.? 1 -178 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs768833405 no no 0 0.000000 0 transversion G C G>C 0.094 -1.732 235 PASS . . . . . . . . . . . . . . . . 0.25128207 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 195.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . @ . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs768833405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +rs2874584 9 66457189 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457189 66457189 Chr9(GRCh37):g.66457189C>T -100 -100 NR_121647.1:n.-100C>T p.? p.? 1 -167 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs2874584 no no 0 0.000000 0 transition C T C>T 0.079 0.125 255 PASS . . . . . . . . . . . . . . . . 0.34065935 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 182.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . @ . . . 0.61 0.49 182 ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2874584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs2874584 rs2874584 1 1538 10 1/0 0,224,255 +. 9 66457192 TAGAGAGAG T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 deletion upstream GRCh37 66457204 66457211 Chr9(GRCh37):g.66457204_66457211del -85 -78 NR_121647.1:n.-85_-78del p.? p.? 1 -145 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 GAGAGAGA 255 Pass . . . . . . . . . . . . . . . . 0.36956522 . . . 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 184 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . . . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,43 +rs796214744 9 66457278 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457278 66457278 Chr9(GRCh37):g.66457278G>A -11 -11 NR_121647.1:n.-11G>A p.? p.? 1 -78 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 7.09607 0 rs796214744 no no 0 0.000000 0 transition G A G>A 0.020 -1.651 107 PASS . . . . . . . . . . . . . . . . 0.12839507 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 405.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . @ . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-107 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,174,255 +rs75999199 9 66457310 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution exon GRCh37 66457310 66457310 Chr9(GRCh37):g.66457310T>G 22 22 NR_121647.1:n.22T>G 1 -46 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 7.22066 0 rs75999199 no no 0 0.000000 0 transversion T G T>G 0.016 0.125 255 PASS . . . . . . . . . . . . . . . . 0.42405063 . . @ 201 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 474.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Ggt|C8G|LINC01410|Non-coding_transcript|NON_CODING|NR_121647|NR_121647.ex.1) . . . . . . . -0.0533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.45 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75999199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75999199 rs75999199 1 1538 10 1/0 0,184,205 +rs79959518 9 66457313 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution exon GRCh37 66457313 66457313 Chr9(GRCh37):g.66457313G>A 25 25 NR_121647.1:n.25G>A 1 -43 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.30978 0 rs79959518 no no 0 0.000000 0 transition G A G>A 0.020 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.598513 . . @ 322 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 538.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G9R|LINC01410|Non-coding_transcript|NON_CODING|NR_121647|NR_121647.ex.1) . . . . . . . -0.4942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.55 0.44 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79959518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79959518 rs79959518 1 1538 10 1/0 0,185,185 +rs77524857 9 66457317 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution exon GRCh37 66457317 66457317 Chr9(GRCh37):g.66457317C>T 29 29 NR_121647.1:n.29C>T 1 -39 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.03559 0 rs77524857 no no 0 0.000000 0 transition C T C>T 0.130 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36177474 . . @ 212 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 586.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A10V|LINC01410|Non-coding_transcript|NON_CODING|NR_121647|NR_121647.ex.1) . . . . . . . 0.0415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.48 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77524857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77524857 rs77524857 1 1538 10 1/0 0,171,201 +rs80001863 9 66457324 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution exon GRCh37 66457324 66457324 Chr9(GRCh37):g.66457324G>A 36 36 NR_121647.1:n.36G>A 1 -32 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.16838 0 rs80001863 no no 0 0.000000 0 transition G A G>A 0.177 0.125 255 PASS . . . . . . . . . . . . . . . . 0.40822786 . . @ 258 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 632.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A12|LINC01410|Non-coding_transcript|NON_CODING|NR_121647|NR_121647.ex.1) . . . . . . . 0.0789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.53 0.45 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80001863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80001863 rs80001863 1 1538 10 1/0 0,172,197 +rs199952614 9 66457374 A G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457374 66457374 Chr9(GRCh37):g.66457374A>G 67+19 67+19 NR_121647.1:n.67+19A>G p.? p.? 1 1 19 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 7.07076 0 Cryptic Acceptor Strongly Activated 66457379 1.84006 0.539516 2.83468 0.544515 79.9582 rs199952614 no no 0 0.000000 0 transition A G A>G 0.075 0.125 148 PASS . . . . . . . . . . . . . . . . 0.17041801 . . @ 106 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 622.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.49 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199952614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . rs199952614 rs199952614 1 1538 10 1/0 0,157,242 +rs796905018 9 66457384 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457384 66457384 Chr9(GRCh37):g.66457384G>A 67+29 67+29 NR_121647.1:n.67+29G>A p.? p.? 1 1 29 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.06219 0 rs796905018 no no 0 0.000000 0 transition G A G>A 0.059 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10906515 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 706.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,254 +rs1809739 9 66457388 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457388 66457388 Chr9(GRCh37):g.66457388T>G 67+33 67+33 NR_121647.1:n.67+33T>G p.? p.? 1 1 33 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 7.36157 0 rs1809739 no no 0 0.000000 0 transversion T G T>G 0.035 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.7226173 . . @ 508 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 703.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.3731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.42 0.5 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1809739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1809739 rs1809739 rs1809739 rs1809739 1 1538 10 1/0 0,177,172 +rs78461570 9 66457399 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457399 66457399 Chr9(GRCh37):g.66457399T>G 67+44 67+44 NR_121647.1:n.67+44T>G p.? p.? 1 1 44 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.78871 0 Cryptic Donor Strongly Activated 66457396 0.001663 57.6789 0.793015 0.006197 63.1922 rs78461570 no no 0 0.000000 0 transversion T G T>G 0.016 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.5618632 . . @ 386 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.3947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.43 0.51 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78461570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78461570 rs78461570 1 1538 10 1/0 0,178,186 +rs796154742 9 66457404 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457404 66457404 Chr9(GRCh37):g.66457404G>A 67+49 67+49 NR_121647.1:n.67+49G>A p.? p.? 1 1 49 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.39581 0 rs796154742 no no 0 0.000000 0 transition G A G>A 0.012 -1.489 192 PASS . . . . . . . . . . . . . . . . 0.13881402 . . @ 103 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 742.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.3770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,143,247 +rs79030992 9 66457440 A G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457440 66457440 Chr9(GRCh37):g.66457440A>G 67+85 67+85 NR_121647.1:n.67+85A>G p.? p.? 1 1 85 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs79030992 no no 0 0.000000 0 transition A G A>G 0.016 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.34191704 . . @ 239 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 699.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.42 0.38 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79030992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4077229 rs4077229 rs4077229 rs4077229 1 1538 10 1/0 0,165,216 +rs79122745 9 66457451 T C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457451 66457451 Chr9(GRCh37):g.66457451T>C 67+96 67+96 NR_121647.1:n.67+96T>C p.? p.? 1 1 96 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs79122745 no no 0 0.000000 0 transition T C T>C 0.004 -3.588 255 PASS . . . . . . . . . . . . . . . . 0.54626864 . . @ 366 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 670.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.9280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.44 0.53 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79122745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79122745 rs79122745 1 1538 10 1/0 0,182,197 +rs75525313 9 66457460 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457460 66457460 Chr9(GRCh37):g.66457460G>A 67+105 67+105 NR_121647.1:n.67+105G>A p.? p.? 1 1 105 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs75525313 no no 0 0.000000 0 transition G A G>A 0.012 0.125 224 PASS . . . . . . . . . . . . . . . . 0.2244898 . . @ 143 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 637.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.53 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75525313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs75525313 rs75525313 1 1538 10 1/0 0,158,238 +rs11262297 9 66457465 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457465 66457465 Chr9(GRCh37):g.66457465T>G 67+110 67+110 NR_121647.1:n.67+110T>G p.? p.? 1 1 110 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs11262297 no no 0 0.000000 0 transversion T G T>G 0.004 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.60314685 . . @ 345 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 572.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.53 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11262297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11262297 rs11262297 rs11262297 rs11262297 1 1538 10 1/0 0,193,201 +. 9 66457467 G GTGTGT - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 insertion intron GRCh37 66457468 66457469 Chr9(GRCh37):g.66457468_66457469insGTGTT 67+113 67+114 NR_121647.1:n.67+113_67+114insGTGTT p.? p.? 1 1 113 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Donor Strongly Activated 66457466 6,00E-06 46.4319 0.478633 0.003783 64.3379 GTGTT 255 Pass . . . . . . . . . . . . . . . . 0.1627907 . . . 91 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 559 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,79 +. 9 66457471 T TA - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 insertion intron GRCh37 66457471 66457472 Chr9(GRCh37):g.66457471_66457472insA 67+116 67+117 NR_121647.1:n.67+116_67+117insA p.? p.? 1 1 116 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs796528805 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . . . . . 0.21669628 . . . 122 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 563 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,66 +rs2002300 9 66457475 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457475 66457475 Chr9(GRCh37):g.66457475C>T 67+120 67+120 NR_121647.1:n.67+120C>T p.? p.? 1 1 120 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs2002300 yes no Frequency 1 0.000000 0 transition C T C>T 0.016 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.6900901 . . @ 383 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 555.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.37 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2002300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2002300 rs2002300 rs2002300 rs2002300 1 1538 10 1/0 0,197,199 +rs77629849 9 66457480 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457480 66457480 Chr9(GRCh37):g.66457480G>A 67+125 67+125 NR_121647.1:n.67+125G>A p.? p.? 1 1 125 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs77629849 no no 0 0.000000 0 transition G A G>A 0.028 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.46797153 . . @ 263 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 562.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.47 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77629849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77629849 rs77629849 1 1538 10 1/0 0,186,218 +rs113875913 9 66457498 G T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457498 66457498 Chr9(GRCh37):g.66457498G>T 67+143 67+143 NR_121647.1:n.67+143G>T p.? p.? 1 1 143 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Strongly Activated 66457515 3.03457 0.014517 70.4556 4.55355 0.047528 70.4556 rs113875913 no no 0 0.000000 0 transversion G T G>T 0.138 0.125 168 PASS . . . . . . . . . . . . . . . . 0.27209705 . . @ 157 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 577.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.45 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113875913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-168 . . . . . . . . . . . . . . rs113875913 rs113875913 1 1538 10 1/0 0,173,234 +. 9 66457511 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457511 66457511 Chr9(GRCh37):g.66457511T>G 67+156 67+156 NR_121647.1:n.67+156T>G p.? p.? 1 1 156 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 New Acceptor Site 66457512 3.80334 0.045633 70.7674 transversion T G T>G 0.106 -2.054 175 PASS . . . . . . . . . . . . . . . . 0.10291595 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 583.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,255 +rs74360065 9 66457535 T C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457535 66457535 Chr9(GRCh37):g.66457535T>C 67+180 67+180 NR_121647.1:n.67+180T>C p.? p.? 1 1 180 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs74360065 no no 0 0.000000 0 transition T C T>C 0.098 0.125 174 PASS . . . . . . . . . . . . . . . . 0.10141988 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 493.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.43 0.5 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs74360065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . rs74360065 rs74360065 1 1538 10 1/0 0,157,255 +rs79475537 9 66457562 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457562 66457562 Chr9(GRCh37):g.66457562C>T 67+207 67+207 NR_121647.1:n.67+207C>T p.? p.? 1 1 207 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs79475537 no no 0 0.000000 0 transition C T C>T 0.063 0.125 196 PASS . . . . . . . . . . . . . . . . 0.14874142 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 437.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0531 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.36 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs79475537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs36158570 rs36158570 rs36158570 rs36158570 1 1538 10 1/0 0,167,255 +rs78196222 9 66457585 G T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457585 66457585 Chr9(GRCh37):g.66457585G>T 67+230 67+230 NR_121647.1:n.67+230G>T p.? p.? 1 1 230 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Weakly Activated 66457596 8.89473 0.346285 81.9714 8.92835 0.832939 88.2811 rs78196222 no no 0 0.000000 0 transversion G T G>T 0.004 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.37965262 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 403.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.49 0.47 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78196222 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs78196222 rs78196222 1 1538 10 1/0 0,192,239 +rs10907850 9 66457588 T C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457588 66457588 Chr9(GRCh37):g.66457588T>C 67+233 67+233 NR_121647.1:n.67+233T>C p.? p.? 1 1 233 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs10907850 no no 0 0.000000 0 transition T C T>C 0.004 0.125 192 PASS . . . . . . . . . . . . . . . . 0.1392405 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 395.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.43 0.46 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs10907850 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.033 rs10907850 rs10907850 rs10907850 rs10907850 1 1538 10 1/0 0,170,255 +rs141224694 9 66457593 C A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457593 66457593 Chr9(GRCh37):g.66457593C>A 67+238 67+238 NR_121647.1:n.67+238C>A p.? p.? 1 1 238 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs141224694 no no 0 0.000000 0 transversion C A C>A 0.000 -1.651 146 PASS . . . . . . . . . . . . . . . . 0.22099447 . . @ 80 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 362.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.48 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141224694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . rs141224694 rs141224694 1 1538 10 1/0 0,189,255 +rs1809740 9 66457594 A G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457594 66457594 Chr9(GRCh37):g.66457594A>G 67+239 67+239 NR_121647.1:n.67+239A>G p.? p.? 1 1 239 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs1809740 yes no Frequency/1000G 2 0.000000 0 0.668530 0.700500 0.662600 0.617100 0.679900 0.674400 transition A G A>G 0.000 -1.651 255 PASS . . . . . 0.7 0.67 0.67 0.62 0.68 0.66 . . . . . 0.9027027 . . @ 334 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 370.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.3315 . . . 0.45 0.47 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1809740 0.174 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.17 rs1809740 rs1809740 rs1809740 rs1809740 1 1538 10 1/0 0,206,203 +rs78450472 9 66457595 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457595 66457595 Chr9(GRCh37):g.66457595G>A 67+240 67+240 NR_121647.1:n.67+240G>A p.? p.? 1 1 240 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 New Acceptor Site 66457597 1.58974 0.007264 65.1822 rs78450472 yes no Frequency/1000G 2 0.000000 0 0.063498 0.070300 0.075700 0.050600 0.060600 0.056200 transition G A G>A 0.000 0.125 178 PASS . . . . . 0.07 0.064 0.056 0.051 0.061 0.076 . . . . . 0.10840108 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 369.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.0635 . . . 0.48 0.57 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs78450472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78450472 rs78450472 1 1538 10 1/0 0,170,255 +rs55842063 9 66457605 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457605 66457605 Chr9(GRCh37):g.66457605C>T 67+250 67+250 NR_121647.1:n.67+250C>T p.? p.? 1 1 250 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs55842063 no no 0 0.000000 0 transition C T C>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.37333333 . . @ 140 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 375.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.62 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55842063 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs55842063 rs55842063 rs55842063 rs55842063 1 1538 10 1/0 0,195,247 +rs12380199 9 66457609 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457609 66457609 Chr9(GRCh37):g.66457609G>A 67+254 67+254 NR_121647.1:n.67+254G>A p.? p.? 1 1 254 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs12380199 no no 0 0.000000 0 transition G A G>A 0.004 0.125 175 PASS . . . . . . . . . . . . . . . . 0.10263158 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 380.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.57 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs12380199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs12380199 rs12380199 1 1538 10 1/0 0,169,255 +rs74362572 9 66457620 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457620 66457620 Chr9(GRCh37):g.66457620C>T 67+265 67+265 NR_121647.1:n.67+265C>T p.? p.? 1 1 265 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs74362572 no no 0 0.000000 0 transition C T C>T 0.024 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15183246 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 382.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.41 0.6 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74362572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs74362572 rs74362572 1 1538 10 1/0 0,173,255 +rs1809741 9 66457652 C A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457652 66457652 Chr9(GRCh37):g.66457652C>A 67+297 67+297 NR_121647.1:n.67+297C>A p.? p.? 1 1 297 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 New Acceptor Site 66457654 X.64 0.942477 86.5686 rs1809741 no no 0 0.000000 0 transversion C A C>A 0.004 -1.974 171 PASS . . . . . . . . . . . . . . . . 0.31666666 . . @ 95 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 300.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.59 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1809741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . . . rs1809741 rs1809741 1 1538 10 1/0 0,209,255 +rs78392104 9 66457664 T C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457664 66457664 Chr9(GRCh37):g.66457664T>C 67+309 67+309 NR_121647.1:n.67+309T>C p.? p.? 1 1 309 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs78392104 no no 0 0.000000 0 transition T C T>C 0.008 -1.651 247 PASS . . . . . . . . . . . . . . . . 0.29562044 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 274.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.53 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78392104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs78392104 rs78392104 1 1538 10 1/0 0,202,255 +. 9 66457691 A C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457691 66457691 Chr9(GRCh37):g.66457691A>C 67+336 67+336 NR_121647.1:n.67+336A>C p.? p.? 1 1 336 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 transversion A C A>C 0.016 -1.812 242 PASS . . . . . . . . . . . . . . . . 0.27826086 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 230.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.55 0.38 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111684071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . rs77169720 rs111684071 1 1538 10 1/0 0,208,255 +rs764347404 9 66499653 C T - PTGER4P2-CDK2AP2P2 44749 PTGER4P2-CDK2AP2P2 readthrough, transcribed pseudogene NR_024496.1 1 3705 0 substitution exon GRCh37 66499653 66499653 Chr9(GRCh37):g.66499653C>T 328 328 NR_024496.1:n.328C>T 2 25 3' 83.4914 9.20496 0.811129 6.20796 83.4914 9.20496 0.811129 5.85095 0 Cryptic Acceptor Strongly Activated 66499664 2.01757 0.000226 70.4144 2.71933 0.000888 74.5164 rs764347404 yes no Frequency 1 C 0.000000 0 0.002876 0.007595 0.003232 0.000342 0.003393 0.001351 0.001709 0.008161 0.002751 0.008161 582 112 76 3 43 34 164 137 13 202374 14746 23514 8772 12674 25170 95984 16788 4726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 582 112 76 3 43 34 164 137 13 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 0.044 177 PASS . . . . . . . . . . . . X97876:uc004aee.1:exon1:c.C463T:p.R155C . . . 0.10810811 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R110C|PTGER4P2-CDK2AP2P2|Non-coding_transcript|NON_CODING|NR_024496|NR_024496.ex.2) . . . . . . . -0.3106 . . . . . . . . 6.543e-03 . . . 0.0279 0.0125 0.0102 0.0147 0.0033 0.0161 0.0057 0.0039 0.0191 0.0044 0.0084 0.0080 0.0024 0.0022 0 0.0038 . nonsynonymous_SNV . . . . upstream exonic ncRNA_exonic . . . @ . . . 0.69 0.32 182 . X97876 PTGER4P2-CDK2AP2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs764347404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0094 0.0030 0.0032 0.0004 0.0035 0.0097 0.0018 0.0033 0.0014 0.0050 0.0022 0.0033 0 0.0025 0.0004 0.0013 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs112101439 rs112101439 1 1538 10 1/0 0,222,255 +rs2988203 (chr9:66513993 C/G) 9 66513993 C G No Alamut gene - other known genes: MYO5BP2 MYO5BP2 +rs62562634 (chr9:66960696 T/C) 9 66960696 T C Not on a known gene +. (chr9:66960786 T/C) 9 66960786 T C Not on a known gene +rs376475612 (chr9:66960789 G/A) 9 66960789 G A Not on a known gene +rs74435858 (chr9:66960890 T/C) 9 66960890 T C Not on a known gene +rs3004385 (chr9:66960913 T/C) 9 66960913 T C Not on a known gene +. 9 67291039 C T - AQP7P1 32048 Aquaporin 7 pseudogene 1 NR_002817.2 -1 3180 0 substitution upstream GRCh37 67291039 67291039 Chr9(GRCh37):g.67291039C>T -1547 -1547 NR_002817.2:n.-1547G>A p.? p.? 1 -1856 5' 74.2342 7.35828 0.95771 9.652 74.2342 7.35828 0.95771 9.652 0 0.000033 0.000000 0.000000 0.000000 0.000660 0.000000 0.000000 0.000000 0.000000 0.000660 1 0 0 0 1 0 0 0 0 30284 8446 826 300 1516 0 14772 3468 956 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 59 Genomes transition G A G>A 0.031 -0.682 194 PASS . . . . . . . . . . . . . . . . 0.14634146 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . UPSTREAM(MODIFIER||||AQP7P1|Non-coding_transcript|NON_CODING|NR_002817|) . . . . . . . -0.3050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.38 0.32 182 ENSG00000228522 . . . dist\x3d1547\x3bdist\x3d493905 dist\x3d1547\x3bdist\x3d488084 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.302e-05 0 0 0.0007 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs4603019 rs4603019 rs4603019 rs4603019 1 1538 10 1/0 0,255,255 +. 9 67793238 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793238 67793238 Chr9(GRCh37):g.67793238A>G 394 394 NR_027422.1:n.394T>C 2 101 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 transition T C T>C 0.236 -0.037 235 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.T179C:p.F60S . . . . 0.2631579 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F132L|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.7109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.000000 . . 0.000000 . . 1.0E-235 . . . . . . . . . 0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793240 G T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793240 67793240 Chr9(GRCh37):g.67793240G>T 392 392 NR_027422.1:n.392C>A 2 99 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36462 3396 5392 1000 5396 4398 15252 544 1084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 38 Exomes transversion C A C>A 0.236 -0.037 198 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.C177A:p.I59I . . . . 0.15789473 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S131Y|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.2099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM4007239\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793249 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793249 67793249 Chr9(GRCh37):g.67793249A>G 383 383 NR_027422.1:n.383T>C 2 90 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 transition T C T>C 0.236 -0.037 225 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.T168C:p.D56D . . . . 0.23255815 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M128T|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.2107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM4007240\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793251 C G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793251 67793251 Chr9(GRCh37):g.67793251C>G 381 381 NR_027422.1:n.381G>C 2 88 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 0.000055 0.000000 0.000183 0.000000 0.000000 0.000000 0.000000 0.001838 0.000000 0.001838 2 0 1 0 0 0 0 1 0 36468 3428 5470 1002 5348 4408 15204 544 1064 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 38 Exomes transversion G C G>C 0.236 -0.037 219 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.G166C:p.D56H . . . . 0.21276596 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K127N|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.7122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.27 182 ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.000000 . . . . . . . . . . 0 5.484e-05 0.0002 0 0 0.0018 0 0 0 . . . . . . . . . . . . 0.000 0.000000 . . 0.000000 . . 1.0E-219 . . . . . . . . . 0.000 . . rs1060720 rs1060720 rs1060720 rs1060720 1 1538 10 1/0 0,255,255 +. 9 67793269 G A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793269 67793269 Chr9(GRCh37):g.67793269G>A 363 363 NR_027422.1:n.363C>T 2 70 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.43661 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38524 3606 6222 1022 5740 4710 15528 564 1132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 39 Exomes transition C T C>T 0.220 -0.037 216 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.C148T:p.R50W . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S121|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.7272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.07 . . . . . . . ID\x3dCOSM4007241\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . ENST00000377484 . . . 0.010000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . 0.000 0.000000 . . 0.010000 . . 1.0E-216 . . . . . . . . . 0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793306 C A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793306 67793306 Chr9(GRCh37):g.67793306C>A 326 326 NR_027422.1:n.326G>T 2 33 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.1409 0 transversion G T G>T 0.028 0.125 177 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.G111T:p.K37N . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aTa|R109I|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.8114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.06 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.107 0.107000 . . 0.000000 . . 1.0E-177 . . . . . . . . . 0.107 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793311 T C - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793311 67793311 Chr9(GRCh37):g.67793311T>C 321 321 NR_027422.1:n.321A>G 2 28 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.51162 0 transition A G A>G 0.012 -1.651 255 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.A106G:p.N36D . . . . 0.34042552 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R107|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -1.5082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000377484 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.655 -1.655000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.655 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793315 G A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793315 67793315 Chr9(GRCh37):g.67793315G>A 317 317 NR_027422.1:n.317C>T 2 24 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.45582 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000063 1 0 0 0 0 0 1 0 0 40932 3784 7202 1072 6076 5076 15902 600 1220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 41 Exomes transition C T C>T 0.016 0.125 109 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.C102T:p.A34A . . . . 0.2 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P106L|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.3569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.5 0.22 182 ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.443e-05 0 0 0 0 6.289e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-109 . . . . . . . . . . . . . rs71265827 rs71265827 rs71265827 1 1538 10 1/0 0,255,255 +. 9 67793326 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793326 67793326 Chr9(GRCh37):g.67793326A>G 306 306 NR_027422.1:n.306T>C 2 13 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.969797 7.90172 0.000757546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44268 4170 8414 1140 6578 5464 16548 634 1320 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Exomes transition T C T>C 0.016 -1.651 244 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.T91C:p.Y31H . . . . 0.29268292 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S102|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -1.5040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . ID\x3dCOSM4007242\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . ENST00000377484 . . . 1.000000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -1.644 -1.644000 . . 1.000000 . . 1.0000000000000001E-244 . . . . . . . . . -1.644 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793327 C T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793327 67793327 Chr9(GRCh37):g.67793327C>T 305 305 NR_027422.1:n.305G>A 2 12 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.950309 7.64639 -0.00595599 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44218 4144 8416 1140 6578 5466 16530 628 1316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Exomes transition G A G>A 0.020 0.125 238 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.G90A:p.E30E . . . . 0.27272728 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S102N|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.4230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793352 C T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793352 67793352 Chr9(GRCh37):g.67793352C>T 294-14 294-14 NR_027422.1:n.294-14G>A p.? p.? 2 1 -14 3' 82.7057 7.88334 0.967598 7.61998 0 3.40141 0.969699 0 -0.52212 transition G A G>A 0.016 0.125 188 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793353 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793353 67793353 Chr9(GRCh37):g.67793353A>G 294-15 294-15 NR_027422.1:n.294-15T>C p.? p.? 2 1 -15 3' 82.7057 7.88334 0.967598 7.61998 82.7057 VIII.78 0.965032 5.83727 0.0272115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43662 4022 8340 1126 6456 5444 16350 624 1300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Exomes transition T C T>C 0.012 -1.651 250 PASS . . . . . . . . . . . . . . . . 0.31111112 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.7461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793355 T A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793355 67793355 Chr9(GRCh37):g.67793355T>A 294-17 294-17 NR_027422.1:n.294-17A>T p.? p.? 2 1 -17 3' 82.7057 7.88334 0.967598 7.61998 82.7057 X.91 0.978318 XI.94 0.121483 67793355 -89.8529 transversion A T A>T 0.016 0.044 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793358 G T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793358 67793358 Chr9(GRCh37):g.67793358G>T 294-20 294-20 NR_027422.1:n.294-20C>A p.? p.? 2 1 -20 3' 82.7057 7.88334 0.967598 7.61998 82.7057 VII.62 0.963879 7.06234 -0.00919397 67793355 -20.2941 0.000043 0.000235 0.000000 0.000000 0.000153 0.000000 0.000000 0.000000 0.000000 0.000235 2 1 0 0 1 0 0 0 0 46878 4260 8560 1170 6556 5520 17604 1798 1410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.016 0.125 220 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.75 0.22 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.27e-05 0 0 0.0002 0 0 0 0 0.0048 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs6606220 rs6606220 rs6606220 rs6606220 1 1538 10 1/0 0,255,255 +. 9 67793366 A T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793366 67793366 Chr9(GRCh37):g.67793366A>T 294-28 294-28 NR_027422.1:n.294-28T>A p.? p.? 2 1 -28 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.36357 0 67793367 -5.96791 0.000063 0.000234 0.000000 0.000000 0.000153 0.000000 0.000056 0.000000 0.000000 0.000234 3 1 0 0 1 0 1 0 0 47378 4278 8574 1174 6520 5516 17798 2082 1436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.016 0.044 224 PASS . . . . . . . . . . . . . . . . 0.22916667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.72 0.28 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.278e-05 0 0 0.0002 0 0 0 0 0.0039 0.0006 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs6606221 rs6606221 rs6606221 rs6606221 1 1538 10 1/0 0,255,255 +rs76557206 9 67793377 G C - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793377 67793377 Chr9(GRCh37):g.67793377G>C 294-39 294-39 NR_027422.1:n.294-39C>G p.? p.? 2 1 -39 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.53622 0 67793374 -20.2941 rs76557206 no no 0 G 0.000000 0 transversion C G C>G 0.004 -1.651 203 PASS . . . . . . . . . . . . . . . . 0.17021276 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.7653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.78 0.22 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76557206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs76557206 rs76557206 1 1538 10 1/0 0,255,255 +. 9 67793391 G A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793391 67793391 Chr9(GRCh37):g.67793391G>A 294-53 294-53 NR_027422.1:n.294-53C>T p.? p.? 2 1 -53 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 8.01981 0 0.005175 0.010830 0.000000 0.017241 0.000000 0.000000 0.008671 0.000000 0.004000 0.017241 29 6 0 1 0 0 21 0 1 5604 554 162 58 142 0 2422 2016 250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 6 0 1 0 0 21 0 1 0 0 0 0 0 0 0 0 0 RF 57 Genomes transition C T C>T 0.012 0.125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.77 0.23 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0108 0.0052 0 0.0172 0 0 0.0087 0.004 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . rs71265826 rs71265826 rs71265826 1 1538 10 1/0 0,255,255 +. 9 67793396 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793396 67793396 Chr9(GRCh37):g.67793396A>G 294-58 294-58 NR_027422.1:n.294-58T>C p.? p.? 2 1 -58 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.043 0 transition T C T>C 0.016 0.044 237 PASS . . . . . . . . . . . . . . . . 0.2682927 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.75 0.26 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs76196504 rs76196504 1 1538 10 1/0 0,255,255 +. 9 67793400 C T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793400 67793400 Chr9(GRCh37):g.67793400C>T 294-62 294-62 NR_027422.1:n.294-62G>A p.? p.? 2 1 -62 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.19742 0 transition G A G>A 0.024 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796290171 9 67793870 G T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793870 67793870 Chr9(GRCh37):g.67793870G>T 293+27 293+27 NR_027422.1:n.293+27C>A p.? p.? 1 1 27 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.916486 5.91199 0 rs796290171 no no 0 G 0.000000 0 transversion C A C>A 0.091 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796223990 9 67793889 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793889 67793889 Chr9(GRCh37):g.67793889A>G 293+8 293+8 NR_027422.1:n.293+8T>C p.? p.? 1 1 8 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.958067 7.04192 0.0151233 rs796223990 no no 0 A 0.000000 0 transition T C T>C 0.087 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.2719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793892 C A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution splice site GRCh37 67793892 67793892 Chr9(GRCh37):g.67793892C>A 293+5 293+5 NR_027422.1:n.293+5G>T p.? p.? 1 1 5 5' 83.6222 7.93332 0.916486 6.18659 71.2295 I.48 0.022246 0 -0.638446 Cryptic Acceptor Strongly Activated 67793879 0.000418 0.828093 0.004948 69.8413 transversion G T G>T 0.102 0.125 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.2590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796359152 9 67793908 C G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793908 67793908 Chr9(GRCh37):g.67793908C>G 282 282 NR_027422.1:n.282G>C 1 -12 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.916486 6.51417 0 rs796359152 no no 0 C 0.000000 0 transversion G C G>C 0.094 0.125 255 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon1:c.G67C:p.V23L . . . . 0.5 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgG/cgC|R94|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.1) . . . . . . . -0.8297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.460000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.107 0.107000 . . 0.460000 . . 1.0E-255 . . . . . . . . . 0.107 . . . . . . 1 1538 10 1/0 0,255,255 +rs796614575 9 67793922 C T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793922 67793922 Chr9(GRCh37):g.67793922C>T 268 268 NR_027422.1:n.268G>A 1 -26 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.916486 6.43115 0 rs796614575 no no 0 C 0.000000 0 transition G A G>A 0.087 0.125 255 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon1:c.G53A:p.R18K . . . . 0.3888889 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 18.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G90S|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.1) . . . . . . . -0.9386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.2 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.920000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.107 0.107000 . . 0.920000 . . 1.0E-255 . . . . . . . . . 0.107 . . . . . . 1 1538 10 1/0 0,255,255 +rs375326774 9 67793951 C A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793951 67793951 Chr9(GRCh37):g.67793951C>A 239 239 NR_027422.1:n.239G>T 1 -55 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.916486 5.76601 0 rs375326774 no no 0 C 0.000000 0 transversion G T G>T 0.008 0.125 255 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon1:c.G24T:p.T8T . . . . 0.4375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 16.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cTg|R80L|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.1) . . . . . . . -0.3990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375326774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375326774 rs375326774 1 1538 10 1/0 0,255,255 +. 9 67930627 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67930627 67930627 Chr9(GRCh37):g.67930627G>A 319-37 319-37 NM_032250.3:c.319-37G>A p.? p.? 3 2 -37 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 New Acceptor Site 67930629 6.73286 0.166964 79.906 transition G A G>A 0.000 -0.602 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.4282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67930641 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67930641 67930641 Chr9(GRCh37):g.67930641G>A 319-23 319-23 NM_032250.3:c.319-23G>A p.? p.? 3 2 -23 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 transition G A G>A 0.000 -1.328 221 PASS . . . . . . . . . . . . . . . . 0.22 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.6635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67930645 C A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67930645 67930645 Chr9(GRCh37):g.67930645C>A 319-19 319-19 NM_032250.3:c.319-19C>A p.? p.? 3 2 -19 3' 72.3891 2.15552 0.001267 0 72.3891 1.44982 0.000856 0 -0.21726 transversion C A C>A 0.000 -0.198 180 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.1011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67930655 C T - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67930655 67930655 Chr9(GRCh37):g.67930655C>T 319-9 319-9 NM_032250.3:c.319-9C>T p.? p.? 3 2 -9 3' 72.3891 2.15552 0.001267 0 75.1009 2.01764 0.001842 0 0.142442 Cryptic Acceptor Weakly Activated 67930664 2.15552 0.001267 72.3891 2.01764 0.001842 75.1009 transition C T C>T 0.000 -0.037 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.3232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67930715 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67930715 67930715 Chr9(GRCh37):g.67930715G>A 370 370 NM_032250.3:c.370G>A p.Ala124Thr p.Ala124Thr 3 52 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Ankyrin repeat Ankyrin repeat-containing domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11008 408 2640 230 2172 1778 3366 100 314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 58 Exomes COSM6371059 Thyroid 0.002677 747 transition G A G>A 0.976 2.707 A Ala GCC 0.403 T Thr ACC 0.361 124 12 12 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C55 0.00 58.02 Deleterious 0 II.67 good 4.628E-2 0.1576 223 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon3:c.G370A:p.A124T . . . . 0.22222222 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.356 . @ . . . . . 1 0.640 . . 81.0 . . . . . . . . . . -0.1095 -0.303 -0.110 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.250 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.061 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.558 . . 0.638 . . . 0.674 0.372 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.472 . . 0.410 . . . . . . 0 . . . . . . 0.257 . 0.369 . HET 0.03 . . . . . . . . . . . . . VII.16 . ENST00000377477 I.95 I.95 . 0.030000 Q5TYW2 . . . . . 0.419 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . 1.081 1.081000 . . 0.030000 . . 1.0E-223 1.000 0.715 . 0.095 0.007 . 0.702 . 0.279 1.081 0.676 . . . . . 1 1538 10 1/0 0,246,255 +. 9 67930741 C T - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution synonymous exon GRCh37 67930741 67930741 Chr9(GRCh37):g.67930741C>T 396 396 NM_032250.3:c.396C>T p.Tyr132= p.Tyr132Tyr 3 78 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Ankyrin repeat Ankyrin repeat-containing domain 0.000221 0.000000 0.000000 0.000000 0.000437 0.000000 0.000407 0.000000 0.000000 0.000437 3 0 0 0 1 0 2 0 0 13600 754 2748 244 2286 1650 4914 594 410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.031 -0.682 Y Tyr TAC 0.562 Y Tyr TAT 0.438 132 179 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon3:c.C396T:p.Y132Y . . . . 0.1125 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . -0.2753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.985e-05 0 0 0.0005 0 0 0 0 0 0.0008 0 0 0 0 0.0015 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs372309810 9 67930765 C T - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution synonymous exon GRCh37 67930765 67930765 Chr9(GRCh37):g.67930765C>T 420 420 NM_032250.3:c.420C>T p.Ala140= p.Ala140Ala 3 -73 5' 72.3493 7.98261 0.586567 II.43 72.3493 7.98261 0.586567 2.79637 0 Cryptic Acceptor Weakly Activated 67930774 3.53164 0.065027 68.6891 2.83026 0.093445 71.4009 Ankyrin repeat Ankyrin repeat-containing domain rs372309810 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14864 560 3392 276 2562 2016 5036 610 412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 59 Exomes transition C T C>T 0.063 -2.781 A Ala GCC 0.403 A Ala GCT 0.263 140 212 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon3:c.C420T:p.A140A . . . . 0.19178082 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.6227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372309810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs372309810 rs372309810 1 1538 10 1/0 0,248,255 +. 9 67930770 A G - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67930770 67930770 Chr9(GRCh37):g.67930770A>G 425 425 NM_032250.3:c.425A>G p.Tyr142Cys p.Tyr142Cys 3 -68 5' 72.3493 7.98261 0.586567 II.43 72.3493 7.98261 0.586567 3.35312 0 Cryptic Donor Strongly Activated 67930765 3.6e-05 48.0325 2.17887 0.020206 60.184 Ankyrin repeat Ankyrin repeat-containing domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16604 646 3696 312 2796 2230 5696 764 464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 56 Exomes transition A G A>G 0.000 -1.974 Y Tyr TAT 0.438 C Cys TGT 0.448 142 12 5 American pika -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 234.48 0.00 Tolerated 0.16 II.67 good 7.668E-1 0.6773 210 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon3:c.A425G:p.Y142C . . . . 0.18571429 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.159 . @ . . . . . 1 0.230 . . 70.0 . . . . . . . . . . -0.8314 -1.200 -0.831 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.039 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.141 0.005 . . 37 . 0.664 . . 0.570 . . . 0.246 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.764 . . 0.850 . . . . . . 0 . . . . . . 0.058 . 0.199 . HET 0.06 . . . . . . . . . . . . . 3.0796 . ENST00000377477 I.95 -3.91 . 0.150000 Q5TYW2 . . . . . 0.016 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -1.779 -1.779000 . . 0.150000 . . 1.0E-210 0.000 0.063 . 0.043 0.001 . 0.007 . 0.062 -1.779 -0.502 . . . . . 1 1538 10 1/0 0,249,255 +rs796379225 9 67934709 C G - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67934709 67934709 Chr9(GRCh37):g.67934709C>G 493-14 493-14 NM_032250.3:c.493-14C>G p.? p.? 4 3 -14 3' 85.5744 XI.09 0.972145 6.51783 83.1647 XI.04 0.971103 5.88283 -0.00768877 rs796379225 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36620 3936 5410 1024 4868 4670 15002 700 1010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 48 Exomes transversion C G C>G 0.000 -1.893 190 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.5594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs28553412 9 67934746 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution synonymous exon GRCh37 67934746 67934746 Chr9(GRCh37):g.67934746T>C 516 516 NM_032250.3:c.516T>C p.Phe172= p.Phe172Phe 4 24 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 7.07805 0 Ankyrin repeat Ankyrin repeat-containing domain rs28553412 no no 0 T 0.000000 0 COSM4163959 Thyroid 0.005355 747 transition T C T>C 0.362 1.174 F Phe TTT 0.454 F Phe TTC 0.546 172 180 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon4:c.T516C:p.F172F . . . . 0.115384616 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . 0.2170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.31 182 ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs28553412 . . . . . . ID\x3dCOSM4163959\x3bOCCURENCE\x3d4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . rs28553412 rs28553412 rs28553412 rs28553412 1 1538 10 1/0 0,255,255 +rs796212141 9 67934747 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67934747 67934747 Chr9(GRCh37):g.67934747G>A 517 517 NM_032250.3:c.517G>A p.Ala173Thr p.Ala173Thr 4 25 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 5.87672 0 Ankyrin repeat Ankyrin repeat-containing domain rs796212141 no no 0 G 0.000000 0 COSM4163960 Thyroid 0.005355 747 transition G A G>A 0.358 1.335 A Ala GCT 0.263 T Thr ACT 0.243 173 12 11 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 208.40 31.45 Deleterious 0 II.67 good 8.342E-2 0.1947 197 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon4:c.G517A:p.A173T . . . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 52.0 . . . . . . . . . . 0.1603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . ID\x3dCOSM4163960\x3bOCCURENCE\x3d4(thyroid) . . . . . VII.16 . ENST00000377477 I.95 I.95 . 0.000000 Q5TYW2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.081 1.081000 . . 0.000000 . . 1.0E-197 . . . . . . . . . 1.081 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67935881 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution synonymous exon GRCh37 67935881 67935881 Chr9(GRCh37):g.67935881T>C 606 606 NM_032250.3:c.606T>C p.Ala202= p.Ala202Ala 5 7 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.985908 2.75053 7.71041e-05 Ankyrin repeat Ankyrin repeat-containing domain 0.000161 0.000000 0.000000 0.000000 0.000000 0.000000 0.000342 0.000000 0.000000 0.000342 2 0 0 0 0 0 2 0 0 12398 4692 182 114 280 0 5848 954 328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 27 Genomes transition T C T>C 0.098 -0.602 A Ala GCT 0.263 A Ala GCC 0.403 202 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.T606C:p.A202A . . . . 0.375 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.5246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199709178 9 67935894 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67935894 67935894 Chr9(GRCh37):g.67935894G>A 619 619 NM_032250.3:c.619G>A p.Val207Ile p.Val207Ile 5 20 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.986758 2.1248 0.000364554 Ankyrin repeat Ankyrin repeat-containing domain rs199709178 yes no Frequency 1 G 0.000000 0 0.000169 0.000000 0.000000 0.000000 0.000000 0.000000 0.000352 0.000000 0.000000 0.000352 2 0 0 0 0 0 2 0 0 11806 4512 164 106 264 0 5688 780 292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 27 Genomes COSM2155398 Central nervous system 0.000416 2405 transition G A G>A 0.035 0.125 V Val GTA 0.114 I Ile ATA 0.163 207 12 2 Chimp 3 3 4 0 0 5.IX 5.II 84 111 29 C0 273.19 0.00 Tolerated 0.41 II.67 good 5.358E-1 0.4249 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.G619A:p.V207I . . . . 0.3846154 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 26.0 . . . . . . . . . . -0.8754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.28 182 ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.36 rs199709178 . . . . . . ID\x3dCOSM2155398\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . III.43 . ENST00000377477 I.64 0.693 . 0.460000 Q5TYW2 . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0004 0 . . . . -0.085 -0.085000 . . 0.460000 . . 1.0E-255 . . . . . . . . . -0.085 . . . . rs199709178 rs199709178 1 1538 10 1/0 0,255,255 +rs200427843 9 67935897 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67935897 67935897 Chr9(GRCh37):g.67935897T>C 622 622 NM_032250.3:c.622T>C p.Tyr208His p.Tyr208His 5 23 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.98568 2.91823 0 Ankyrin repeat Ankyrin repeat-containing domain rs200427843 yes no Frequency 1 T 0.000000 0 0.000054 0.000093 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000093 3 1 0 0 0 0 2 0 0 55712 10798 5428 1162 3094 6108 25262 2392 1468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.360 Y Tyr TAC 0.562 H His CAC 0.587 208 12 3 Frog 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 275.98 0.00 Tolerated 0.55 II.67 good 8.67E-1 0.6054 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.T622C:p.Y208H . . . . 0.37037036 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 27.0 . . . . . . . . . . -1.5788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.43 182 ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.57 rs200427843 . . . . . . . . . . . . II.92 . ENST00000377477 I.64 -1.59 . 0.530000 Q5TYW2 . . . . . . . . . 0.0002 2.275e-05 0 0 0 0 0 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . -1.055 -1.055000 . . 0.530000 . . 1.0E-255 . . . . . . . . . -1.055 . . . . rs200427843 rs200427843 1 1538 10 1/0 0,255,255 +. 9 67935954 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67935954 67935954 Chr9(GRCh37):g.67935954G>A 679 679 NM_032250.3:c.679G>A p.Ala227Thr p.Ala227Thr 5 -59 5' 87.5573 9.72159 0.994436 2.84572 87.5573 9.72159 0.994436 2.41877 0 Cryptic Acceptor Strongly Activated 67935961 1.55131 0.075012 77.5156 1.73001 0.085972 77.5156 Ankyrin repeat Ankyrin repeat-containing domain 0.000109 0.000106 0.000249 0.000000 0.000000 0.000000 0.000144 0.000000 0.000000 0.000249 5 1 1 0 0 0 3 0 0 45774 9422 4014 1016 2476 5118 20898 1662 1168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 A Ala GCT 0.263 T Thr ACT 0.243 227 12 2 Chimp 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 272.33 0.00 Tolerated 0.6 II.67 good 9.531E-1 0.519 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.G679A:p.A227T . . . . 0.4 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.048 . . 30.0 . . . . . . . . . . -1.6692 -1.777 -1.669 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.047 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.460 . . 0.277 . . . 0.127 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 . . . . . . 0.065 . 0.112 . HET 0.1 . . . . . . . . . . . . . III.82 . ENST00000377477 I.64 -3.29 . 0.610000 Q5TYW2 . . . . . 0.012 . . . 0 8.515e-05 0.0003 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.246 . -0.868 -0.868000 . . 0.610000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.083 . 0.002 -0.868 -2.712 . . . . . 1 1538 10 1/0 0,255,255 +. 9 67935957 C A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67935957 67935957 Chr9(GRCh37):g.67935957C>A 682 682 NM_032250.3:c.682C>A p.Gln228Lys p.Gln228Lys 5 -56 5' 87.5573 9.72159 0.994436 2.84572 87.5573 9.72159 0.994436 2.1492 0 Ankyrin repeat-containing domain 0.000022 0.000106 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000106 1 1 0 0 0 0 0 0 0 46100 9410 4138 1024 2524 5172 21014 1626 1192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.247 Q Gln CAA 0.256 K Lys AAA 0.425 228 12 4 Frog 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 243.92 0.00 Tolerated 1 II.67 good 9.695E-1 0.5542 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.C682A:p.Q228K . . . . 0.37931034 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.120 . . 29.0 . . . . . . . . . . -0.9644 -1.180 -0.964 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.047 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.436 . . 0.451 . . . 0.290 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.484 . . 0.483 . . . . . . 0 . . . . . . 0.008 . 0.064 . HET 0.16 . . . . . . . . . . . . . 0.6949 . ENST00000377477 I.64 -3.29 . 1.000000 Q5TYW2 . . . . . 0.030 . . . 0 0 0 0 0 0 0 0 0 0.0002 9.413e-05 0 0 0 0 0 0 . . 0.246 . -0.802 -0.802000 . . 1.000000 . . 1.0E-255 0.030 0.202 . 0.083 0.005 . 0.133 . 0.059 -0.802 -0.401 . . . . . 1 1538 10 1/0 0,255,255 +rs796585045 9 67938656 C G - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution stop gain exon GRCh37 67938656 67938656 Chr9(GRCh37):g.67938656C>G 791 791 NM_032250.3:c.791C>G p.Ser264* p.Ser264* 6 -3 5' 94.6711 X.63 0.998516 0 91.6164 10.0647 0.998457 0 -0.0324995 rs796585045 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29582 8456 796 280 1560 0 14236 3338 916 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 44 Genomes transversion C G C>G 0.197 0.125 S Ser TCA 0.148 * * TGA 0.489 264 186 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon6:c.C791G:p.S264X . . . . 0.12658228 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.771 . @ . . . . . 0 0.286 . . 79.0 . . . . . . . . . . -0.0801 -0.506 -0.080 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.077 . . . LowAF 0.01 . . . . . . . . . . . . . III.92 . ENST00000377477 I.32 0.361 . 0.300000 . 0.0001 0.054 . . . 0.028 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.246 . 0.139 0.139000 . . 0.300000 . . 1.0E-186 0.033 0.204 . 0.062 0.005 . 0.090 . 0.008 0.139 -0.655 . . . . . 1 1538 10 1/0 0,238,255 +rs200761515 9 67938664 A T - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67938664 67938664 Chr9(GRCh37):g.67938664A>T 793+6 793+6 NM_032250.3:c.793+6A>T p.? p.? 6 6 6 5' 94.6711 X.63 0.998516 0 100 X.83 0.998903 1.0993 0.0217395 rs200761515 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.248 0.044 113 PASS . . . . . . . . . . . . . . . . 0.16455697 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.0981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.18 182 ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs796241573 9 67938672 T G - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67938672 67938672 Chr9(GRCh37):g.67938672T>G 793+14 793+14 NM_032250.3:c.793+14T>G p.? p.? 6 6 14 5' 94.6711 X.63 0.998516 0 94.6711 X.63 0.998516 0 0 rs796241573 no no 0 T 0.000000 0 transversion T G T>G 0.000 -0.360 202 PASS . . . . . . . . . . . . . . . . 0.16455697 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.3040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs796462162 9 67938731 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67938731 67938731 Chr9(GRCh37):g.67938731T>C 793+73 793+73 NM_032250.3:c.793+73T>C p.? p.? 6 6 73 5' 94.6711 X.63 0.998516 0 94.6711 X.63 0.998516 0 0 Cryptic Donor Strongly Activated 67938731 5.46315 0.409176 79.0014 7.30445 0.82923 78.3054 rs796462162 no no 0 T 0.000000 0 transition T C T>C 0.020 0.044 215 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.3158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +rs796852218 9 67938749 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67938749 67938749 Chr9(GRCh37):g.67938749T>C 793+91 793+91 NM_032250.3:c.793+91T>C p.? p.? 6 6 91 5' 94.6711 X.63 0.998516 0 94.6711 X.63 0.998516 0 0 rs796852218 no no 0 T 0.000000 0 transition T C T>C 0.008 0.770 194 PASS . . . . . . . . . . . . . . . . 0.14583333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.1105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr9:67977473 T/G) 9 67977473 T G Not on a known gene +. (chr9:67977500 A/G) 9 67977500 A G Not on a known gene +rs368172308 9 68409494 T G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409494 68409494 Chr9(GRCh37):g.68409494T>G 772 772 XR_246700.1:n.772T>G 1 -781 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs368172308 no no 0 0.000000 0 transversion T G T>G 0.020 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.35897437 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.46 0.58 182 ENSG00000225411 AK308561 . . . dist\x3d439201\x3bdist\x3d5814 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs368172308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77169720 rs368172308 1 1538 10 1/0 0,255,255 +rs112354844 9 68409521 A G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409521 68409521 Chr9(GRCh37):g.68409521A>G 799 799 XR_246700.1:n.799A>G 1 -754 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Acceptor Strongly Activated 68409530 3.56306 0.066996 71.3216 4.13777 0.085349 71.4451 rs112354844 no no 0 0.000000 0 transition A G A>G 0.016 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.3655914 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.41 0.57 182 ENSG00000225411 AK308561 . . . dist\x3d439228\x3bdist\x3d5787 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs112354844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112354844 rs112354844 1 1538 10 1/0 0,252,255 +rs113576738 9 68409533 G T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409533 68409533 Chr9(GRCh37):g.68409533G>T 811 811 XR_246700.1:n.811G>T 1 -742 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs113576738 no no 0 0.000000 0 transversion G T G>T 0.012 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.34020618 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.4 0.51 182 ENSG00000225411 AK308561 . . . dist\x3d439240\x3bdist\x3d5775 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs113576738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113576738 rs113576738 1 1538 10 1/0 0,248,255 +rs111658015 9 68409539 C G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409539 68409539 Chr9(GRCh37):g.68409539C>G 817 817 XR_246700.1:n.817C>G 1 -736 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs111658015 no no 0 0.000000 0 transversion C G C>G 0.024 0.125 105 PASS . . . . . . . . . . . . . . . . 0.17204301 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.43 0.56 182 ENSG00000225411 AK308561 . . . dist\x3d439246\x3bdist\x3d5769 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs111658015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-105 . . . . . . . . . . . . . . rs111658015 rs111658015 1 1538 10 1/0 0,245,255 +rs112081340 9 68409565 G A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409565 68409565 Chr9(GRCh37):g.68409565G>A 843 843 XR_246700.1:n.843G>A 1 -710 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs112081340 no no 0 0.000000 0 transition G A G>A 0.055 0.125 180 PASS . . . . . . . . . . . . . . . . 0.11340206 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.44 0.52 182 ENSG00000225411 AK308561 . . . dist\x3d439272\x3bdist\x3d5743 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs112081340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs112081340 rs112081340 1 1538 10 1/0 0,229,255 +rs796801476 9 68409572 G A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409572 68409572 Chr9(GRCh37):g.68409572G>A 850 850 XR_246700.1:n.850G>A 1 -703 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796801476 no no 0 0.000000 0 transition G A G>A 0.016 -1.489 134 PASS . . . . . . . . . . . . . . . . 0.22 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439279\x3bdist\x3d5736 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-134 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs796425780 9 68409576 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409576 68409576 Chr9(GRCh37):g.68409576C>T 854 854 XR_246700.1:n.854C>T 1 -699 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796425780 no no 0 0.000000 0 transition C T C>T 0.008 0.125 177 PASS . . . . . . . . . . . . . . . . 0.10784314 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439283\x3bdist\x3d5732 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +rs199507432 9 68409580 G A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409580 68409580 Chr9(GRCh37):g.68409580G>A 858 858 XR_246700.1:n.858G>A 1 -695 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs199507432 no no 0 0.000000 0 transition G A G>A 0.004 0.125 253 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.43 0.52 182 ENSG00000225411 AK308561 . . . dist\x3d439287\x3bdist\x3d5728 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs199507432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . rs199507432 rs199507432 1 1538 10 1/0 0,248,255 +rs760310803 9 68409584 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409584 68409584 Chr9(GRCh37):g.68409584C>T 862 862 XR_246700.1:n.862C>T 1 -691 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Acceptor Strongly Activated 68409597 I.21 0.057366 70.1777 2.41398 0.197388 73.2933 rs760310803 no no 0 0.000000 0 transition C T C>T 0.004 -1.489 162 PASS . . . . . . . . . . . . . . . . 0.185567 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439291\x3bdist\x3d5724 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs760310803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-162 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs772773000 9 68409590 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409590 68409590 Chr9(GRCh37):g.68409590C>T 868 868 XR_246700.1:n.868C>T 1 -685 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs772773000 no no 0 0.000000 0 transition C T C>T 0.024 0.125 213 PASS . . . . . . . . . . . . . . . . 0.19417475 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 103.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439297\x3bdist\x3d5718 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs772773000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs763706265 9 68409592 G T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409592 68409592 Chr9(GRCh37):g.68409592G>T 870 870 XR_246700.1:n.870G>T 1 -683 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Acceptor Strongly Activated 68409597 I.21 0.057366 70.1777 2.64804 0.458522 76.6356 rs763706265 no no 0 0.000000 0 transversion G T G>T 0.024 0.125 171 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439299\x3bdist\x3d5716 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs74192497 9 68409600 C A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409600 68409600 Chr9(GRCh37):g.68409600C>A 878 878 XR_246700.1:n.878C>A 1 -675 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs74192497 no no 0 0.000000 0 transversion C A C>A 0.016 -1.732 245 PASS . . . . . . . . . . . . . . . . 0.29 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6531 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.48 0.57 182 ENSG00000225411 AK308561 . . . dist\x3d439307\x3bdist\x3d5708 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs74192497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . rs74192497 rs74192497 1 1538 10 1/0 0,243,255 +rs753340519 9 68409602 G C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409602 68409602 Chr9(GRCh37):g.68409602G>C 880 880 XR_246700.1:n.880G>C 1 -673 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs753340519 no no 0 0.000000 0 transversion G C G>C 0.020 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.41414142 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439309\x3bdist\x3d5706 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs753340519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs200340791 9 68409722 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409722 68409722 Chr9(GRCh37):g.68409722C>T 1000 1000 XR_246700.1:n.1000C>T 1 -553 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Acceptor Strongly Activated 68409725 0.000668 66.9596 0.0446811 0.000899 60.7829 rs200340791 no no 0 0.000000 0 transition C T C>T 0.039 0.125 221 PASS . . . . . . . . . . . . . . . . 0.2145749 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 247.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.59 0.63 182 ENSG00000225411 AK308561 . . . dist\x3d439429\x3bdist\x3d5586 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200340791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs200340791 rs200340791 1 1538 10 1/0 0,197,255 +rs80207175 9 68409731 A G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409731 68409731 Chr9(GRCh37):g.68409731A>G 1009 1009 XR_246700.1:n.1009A>G 1 -544 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs80207175 no no 0 0.000000 0 transition A G A>G 0.012 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.45041323 . . @ 109 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 242.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.59 0.68 182 ENSG00000225411 AK308561 . . . dist\x3d439438\x3bdist\x3d5577 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs80207175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80207175 rs80207175 1 1538 10 1/0 0,216,236 +rs796552013 9 68409742 T C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409742 68409742 Chr9(GRCh37):g.68409742T>C 1020 1020 XR_246700.1:n.1020T>C 1 -533 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796552013 no no 0 0.000000 0 transition T C T>C 0.004 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 80 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 248.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.58 0.66 182 ENSG00000225411 AK308561 . . . dist\x3d439449\x3bdist\x3d5566 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4077229 rs4077229 rs4077229 rs4077229 1 1538 10 1/0 0,206,250 +rs73649016 9 68409745 C G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409745 68409745 Chr9(GRCh37):g.68409745C>G 1023 1023 XR_246700.1:n.1023C>G 1 -530 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 New Donor Site 68409744 0.788513 0.045583 67.4494 rs73649016 yes no Frequency/1000G 2 0.000000 0 0.444688 0.450100 0.464200 0.435500 0.432400 0.438000 transversion C G C>G 0.004 -1.812 245 PASS . . . . . 0.45 0.44 0.44 0.44 0.43 0.46 . . . . . 0.62249 . . @ 155 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 249.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . 0.4447 . . . 0.56 0.57 182 ENSG00000225411 AK308561 . . . dist\x3d439452\x3bdist\x3d5563 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs73649016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . rs73649016 rs73649016 rs73649016 1 1538 10 1/0 0,226,223 +rs796472066 9 68409778 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409778 68409778 Chr9(GRCh37):g.68409778C>T 1056 1056 XR_246700.1:n.1056C>T 1 -497 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796472066 no no 0 0.000000 0 transition C T C>T 0.004 -1.489 186 PASS . . . . . . . . . . . . . . . . 0.12456747 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 289.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439485\x3bdist\x3d5530 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs202031579 9 68409783 A C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409783 68409783 Chr9(GRCh37):g.68409783A>C 1061 1061 XR_246700.1:n.1061A>C 1 -492 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs202031579 no no 0 0.000000 0 transversion A C A>C 0.012 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.58364314 . . @ 157 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 269.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.53 0.57 182 ENSG00000225411 AK308561 . . . dist\x3d439490\x3bdist\x3d5525 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs202031579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs202031579 rs202031579 1 1538 10 1/0 0,221,229 +rs79786341 9 68409789 G C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409789 68409789 Chr9(GRCh37):g.68409789G>C 1067 1067 XR_246700.1:n.1067G>C 1 -486 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs79786341 no no 0 0.000000 0 transversion G C G>C 0.031 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.7364341 . . @ 190 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 258.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.54 0.5 182 ENSG00000225411 AK308561 . . . dist\x3d439496\x3bdist\x3d5519 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs79786341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79786341 rs79786341 1 1538 10 1/0 0,229,228 +. 9 68409790 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409790 68409790 Chr9(GRCh37):g.68409790C>T 1068 1068 XR_246700.1:n.1068C>T 1 -485 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 transition C T C>T 0.039 0.125 175 PASS . . . . . . . . . . . . . . . . 0.10181818 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 275.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439497\x3bdist\x3d5518 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs796989686 9 68409808 T C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409808 68409808 Chr9(GRCh37):g.68409808T>C 1086 1086 XR_246700.1:n.1086T>C 1 -467 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796989686 no no 0 0.000000 0 transition T C T>C 0.142 0.125 139 PASS . . . . . . . . . . . . . . . . 0.18324608 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 191.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439515\x3bdist\x3d5500 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-139 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 9 68409818 C G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409818 68409818 Chr9(GRCh37):g.68409818C>G 1096 1096 XR_246700.1:n.1096C>G 1 -457 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Donor Strongly Activated 68409813 5.96188 0.210411 66.0711 9.04567 0.837405 78.7671 transversion C G C>G 0.213 0.125 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 209.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439525\x3bdist\x3d5490 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,195,255 +rs76880242 9 68409858 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409858 68409858 Chr9(GRCh37):g.68409858C>T 1136 1136 XR_246700.1:n.1136C>T 1 -417 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs76880242 no no 0 0.000000 0 transition C T C>T 0.217 0.125 252 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intergenic . . . @ . . . 0.54 0.33 182 ENSG00000225411 AK308561 . . . dist\x3d439565\x3bdist\x3d5450 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs76880242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . rs76880242 rs76880242 1 1538 10 1/0 0,231,255 +rs373421059 9 68409865 G A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409865 68409865 Chr9(GRCh37):g.68409865G>A 1143 1143 XR_246700.1:n.1143G>A 1 -410 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs373421059 no no 0 0.000000 0 transition G A G>A 0.146 0.125 238 PASS . . . . . . . . . . . . . . . . 0.26612905 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 124.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439572\x3bdist\x3d5443 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs373421059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . rs373421059 rs373421059 1 1538 10 1/0 0,233,255 +rs78838824 9 68409869 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409869 68409869 Chr9(GRCh37):g.68409869C>T 1147 1147 XR_246700.1:n.1147C>T 1 -406 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs78838824 no no 0 0.000000 0 transition C T C>T 0.094 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41463414 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 123.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intergenic . . . @ . . . 0.54 0.33 182 ENSG00000225411 AK308561 . . . dist\x3d439576\x3bdist\x3d5439 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs78838824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78838824 rs78838824 1 1538 10 1/0 0,250,255 +rs796254397 9 68409872 A C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409872 68409872 Chr9(GRCh37):g.68409872A>C 1150 1150 XR_246700.1:n.1150A>C 1 -403 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796254397 no no 0 0.000000 0 transversion A C A>C 0.059 0.125 250 PASS . . . . . . . . . . . . . . . . 0.30769232 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439579\x3bdist\x3d5436 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs146147878 9 68415354 G T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution downstream GRCh37 68415354 68415354 Chr9(GRCh37):g.68415354G>T *591 *591 XR_246700.1:n.*591G>T p.? p.? 2 3266 3' 80.1878 6.53351 0.694337 5.1764 80.1878 6.53351 0.694337 5.1764 0 Cryptic Acceptor Strongly Activated 68415363 2.43187 0.001283 67.2266 4.36763 0.01596 72.6794 rs146147878 yes no Frequency 1 0.000000 0 0.001072 0.000287 0.000533 0.001658 0.000609 0.000434 0.001283 0.006849 0.000000 0.006849 32 1 2 2 2 1 18 6 0 29858 3484 3750 1206 3282 2306 14032 876 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 1 2 2 2 1 18 6 0 0 0 0 0 0 0 0 0 0 RF 80 Exomes transversion G T G>T 0.201 0.205 178 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 92.0 . . . . . . . . . . 0.0204 . . . . . . . . 3.004e-03 . . . 0.0091 0.0103 0.0083 0.0135 0.0236 0.0094 0.0185 0.0185 0.0107 0.0121 0.0102 0.0069 0.0222 0.0114 0 0.0204 . . . . . . ncRNA_exonic downstream ncRNA_exonic . . . @ . . . 0.51 0.17 182 ENSG00000266017 BC080605 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs146147878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0.0005 0.0017 0.0006 0.0068 0.0013 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs146147878 rs146147878 1 1538 10 1/0 0,231,255 +rs146147878 9 68415354 G T - MIR4477A 41859 MicroRNA 4477a NR_039688.1 -1 81 0 substitution exon GRCh37 68415354 68415354 Chr9(GRCh37):g.68415354G>T 35 35 NR_039688.1:n.35C>A 1 rs146147878 yes no Frequency 1 0.000000 0 0.001072 0.000287 0.000533 0.001658 0.000609 0.000434 0.001283 0.006849 0.000000 0.006849 32 1 2 2 2 1 18 6 0 29858 3484 3750 1206 3282 2306 14032 876 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 1 2 2 2 1 18 6 0 0 0 0 0 0 0 0 0 0 RF 80 Exomes transversion C A C>A 0.201 0.205 178 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 92.0 . . . . . . . . . . 0.0204 . . . . . . . . 3.004e-03 . . . 0.0091 0.0103 0.0083 0.0135 0.0236 0.0094 0.0185 0.0185 0.0107 0.0121 0.0102 0.0069 0.0222 0.0114 0 0.0204 . . . . . . ncRNA_exonic downstream ncRNA_exonic . . . @ . . . 0.51 0.17 182 ENSG00000266017 BC080605 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs146147878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0.0005 0.0017 0.0006 0.0068 0.0013 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs146147878 rs146147878 1 1538 10 1/0 0,231,255 +rs146147878 9 68415354 G T - MIR4477B 41898 MicroRNA 4477b NR_039689.1 1 81 0 substitution exon GRCh37 68415354 68415354 Chr9(GRCh37):g.68415354G>T 47 47 NR_039689.1:n.47G>T 1 rs146147878 yes no Frequency 1 0.000000 0 0.001072 0.000287 0.000533 0.001658 0.000609 0.000434 0.001283 0.006849 0.000000 0.006849 32 1 2 2 2 1 18 6 0 29858 3484 3750 1206 3282 2306 14032 876 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 1 2 2 2 1 18 6 0 0 0 0 0 0 0 0 0 0 RF 80 Exomes transversion G T G>T 0.201 0.205 178 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 92.0 . . . . . . . . . . 0.0204 . . . . . . . . 3.004e-03 . . . 0.0091 0.0103 0.0083 0.0135 0.0236 0.0094 0.0185 0.0185 0.0107 0.0121 0.0102 0.0069 0.0222 0.0114 0 0.0204 . . . . . . ncRNA_exonic downstream ncRNA_exonic . . . @ . . . 0.51 0.17 182 ENSG00000266017 BC080605 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs146147878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0.0005 0.0017 0.0006 0.0068 0.0013 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs146147878 rs146147878 1 1538 10 1/0 0,231,255 +. 9 68427867 A T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68427867 68427867 Chr9(GRCh37):g.68427867A>T 1387 1387 NR_033907.2:n.1387T>A 9 28 3' 72.3983 I.32 0.001338 0 72.3983 I.32 0.001338 0 0 transversion T A T>A 1.000 2.869 187 PASS . . . . . . . . . . . . . . . . 0.12941177 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 85.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Agc|C463S|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.9) . . . . . . . 0.9586 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs80085886 9 68427876 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68427876 68427876 Chr9(GRCh37):g.68427876C>T 1378 1378 NR_033907.2:n.1378G>A 9 19 3' 72.3983 I.32 0.001338 0 72.3983 I.32 0.001108 0 -0.0572995 rs80085886 yes no Frequency 1 0.000000 0 transition G A G>A 1.000 3.514 195 PASS . . . . . . . . . . . . . . . . 0.20481928 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 83.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D460N|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.9) . . . . . . . 0.9369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.49 0.3 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80085886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs80085886 rs80085886 1 1538 10 1/0 0,245,255 +rs4568707 9 68427877 G A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68427877 68427877 Chr9(GRCh37):g.68427877G>A 1377 1377 NR_033907.2:n.1377C>T 9 18 3' 72.3983 I.32 0.001338 0 72.3983 I.32 0.001833 0 0.123318 rs4568707 yes no Frequency 1 0.000000 0 transition C T C>T 0.992 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.49382716 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A459|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.9) . . . . . . . 0.5459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.45 0.26 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4568707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4066495 rs4066495 rs4066495 rs4066495 1 1538 10 1/0 0,255,255 +rs879222145 9 68427892 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68427892 68427892 Chr9(GRCh37):g.68427892T>C 1362 1362 NR_033907.2:n.1362A>G 9 3 3' 72.3983 I.32 0.001338 0 72.3983 1.22627 0.000692 0 -0.222345 rs879222145 no no 0 0.000000 0 transition A G A>G 1.000 0.770 212 PASS . . . . . . . . . . . . . . . . 0.19178082 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R454|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.9) . . . . . . . 0.7222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs4006819 rs4006819 . . 1 1538 10 1/0 0,248,255 +rs74370697 9 68427905 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68427905 68427905 Chr9(GRCh37):g.68427905T>C 1360-11 1360-11 NR_033907.2:n.1360-11A>G p.? p.? 9 8 -11 3' 72.3983 I.32 0.001338 0 72.67 2.49874 0.002898 0 0.610649 Cryptic Acceptor Strongly Activated 68427894 I.32 0.001338 72.3983 2.49874 0.002898 72.67 rs74370697 no no 0 0.000000 0 transition A G A>G 0.071 -0.198 218 PASS . . . . . . . . . . . . . . . . 0.20967741 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.1137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.49 0.35 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74370697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . rs4006820 rs4006820 rs74370697 rs74370697 1 1538 10 1/0 0,255,255 +. 9 68427909 G T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68427909 68427909 Chr9(GRCh37):g.68427909G>T 1360-15 1360-15 NR_033907.2:n.1360-15C>A p.? p.? 9 8 -15 3' 72.3983 I.32 0.001338 0 72.3983 0.812416 0.0002 0 -0.436689 transversion C A C>A 0.039 -0.198 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.2219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2554495 rs2554495 . . 1 1538 10 1/0 0,251,255 +rs78642457 9 68427942 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68427942 68427942 Chr9(GRCh37):g.68427942T>C 1360-48 1360-48 NR_033907.2:n.1360-48A>G p.? p.? 9 8 -48 3' 72.3983 I.32 0.001338 0 72.3983 I.32 0.001338 0 0 68427942 -75.9813 rs78642457 yes no Frequency 1 0.000000 0 transition A G A>G 0.008 0.286 132 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.3801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.38 0.26 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78642457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-132 . . . . . . . . . . . . . . rs78642457 rs78642457 1 1538 10 1/0 0,255,255 +rs146972178 9 68430269 T A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430269 68430269 Chr9(GRCh37):g.68430269T>A 1158-8 1158-8 NR_033907.2:n.1158-8A>T p.? p.? 7 6 -8 3' 76.2123 7.28726 0.830359 2.45928 81.3919 8.14304 0.961409 4.14867 0.114407 Cryptic Acceptor Strongly Activated 68430261 7.28726 0.830359 76.2123 8.14304 0.961409 81.3919 rs146972178 no no 0 0.000000 0 transversion A T A>T 0.000 -0.521 249 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 310.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.1185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.57 0.42 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146972178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . rs77164210 rs146972178 1 1538 10 1/0 0,195,249 +rs139686748 9 68430310 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430310 68430310 Chr9(GRCh37):g.68430310C>T 1158-49 1158-49 NR_033907.2:n.1158-49G>A p.? p.? 7 6 -49 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.36387 0 rs139686748 no no 0 0.000000 0 transition G A G>A 0.000 0.367 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 351.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.0078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.43 0.41 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs139686748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs4122427 rs4122427 rs4122427 rs139686748 1 1538 10 1/0 0,173,255 +rs80235869 9 68430324 G A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430324 68430324 Chr9(GRCh37):g.68430324G>A 1158-63 1158-63 NR_033907.2:n.1158-63C>T p.? p.? 7 6 -63 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.79474 0 Cryptic Acceptor Strongly Activated 68430317 3.4e-05 63.5199 0.114003 9.5e-05 65.0306 rs80235869 no no 0 0.000000 0 transition C T C>T 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.19277108 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 332.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.4098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.32 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200373473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs11940164 rs11940164 rs11940164 rs11940164 1 1538 10 1/0 0,183,255 +rs75174046 9 68430325 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430325 68430325 Chr9(GRCh37):g.68430325T>C 1158-64 1158-64 NR_033907.2:n.1158-64A>G p.? p.? 7 6 -64 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.32365 0 rs75174046 no no 0 0.000000 0 transition A G A>G 0.000 -0.037 190 PASS . . . . . . . . . . . . . . . . 0.13529412 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 340.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.0736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.44 0.36 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs138372927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . rs75174046 rs138372927 1 1538 10 1/0 0,177,255 +rs4415994 9 68430338 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430338 68430338 Chr9(GRCh37):g.68430338C>T 1158-77 1158-77 NR_033907.2:n.1158-77G>A p.? p.? 7 6 -77 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.30708 0 rs4415994 no no 0 0.000000 0 transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.5063291 . . @ 160 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 316.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.3295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.41 0.38 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4415994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28629891 rs28629891 rs4415994 rs201250402 1 1538 10 1/0 0,213,234 +rs62543825 9 68438543 G C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68438543 68438543 Chr9(GRCh37):g.68438543G>C 1055+15 1055+15 NR_033907.2:n.1055+15C>G p.? p.? 5 5 15 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.859886 2.90699 0 New Acceptor Site 68438542 0.101818 0.003521 80.3734 rs62543825 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.5508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.49 0.23 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62543825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62543825 rs62543825 rs62543825 rs62543825 1 1538 10 1/0 0,255,255 +. 9 68438549 G A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68438549 68438549 Chr9(GRCh37):g.68438549G>A 1055+9 1055+9 NR_033907.2:n.1055+9C>T p.? p.? 5 5 9 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.859886 2.12796 0 transition C T C>T 0.307 -0.117 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.0221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs3087992 rs3087992 rs3087992 rs3087992 1 1538 10 1/0 0,255,255 +. 9 68438551 C G - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68438551 68438551 Chr9(GRCh37):g.68438551C>G 1055+7 1055+7 NR_033907.2:n.1055+7G>C p.? p.? 5 5 7 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.911985 1.64094 0.0201961 transversion G C G>C 0.614 -0.117 178 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . 0.0901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 68438552 A G - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68438552 68438552 Chr9(GRCh37):g.68438552A>G 1055+6 1055+6 NR_033907.2:n.1055+6T>C p.? p.? 5 5 6 5' 79.6441 7.80624 0.859886 II.58 73.8655 5.41579 0.584557 0.645881 -0.23299 transition T C T>C 0.858 1.093 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . 0.6985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs202077200 9 68438558 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438558 68438558 Chr9(GRCh37):g.68438558C>T 1055 1055 NR_033907.2:n.1055G>A 5 -1 5' 79.6441 7.80624 0.859886 II.58 67.508 1.92889 0.060695 0 -0.611566 rs202077200 no no 0 0.000000 0 transition G A G>A 1.000 1.335 214 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R352K|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.8850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.55 0.4 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202077200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs202077200 rs202077200 1 1538 10 1/0 0,255,255 +. 9 68438562 T A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438562 68438562 Chr9(GRCh37):g.68438562T>A 1051 1051 NR_033907.2:n.1051A>T 5 -5 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.844449 2.23899 -0.00598413 transversion A T A>T 1.000 1.174 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 48.0 . . STOP_GAINED(HIGH|NONSENSE|Aga/Tga|R351*|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.7271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 68438563 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438563 68438563 Chr9(GRCh37):g.68438563T>C 1050 1050 NR_033907.2:n.1050A>G 5 -6 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.806658 2.41171 -0.0206337 transition A G A>G 1.000 1.255 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q350|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.6105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 68438588 G T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438588 68438588 Chr9(GRCh37):g.68438588G>T 1025 1025 NR_033907.2:n.1025C>A 5 -31 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.859886 1.93068 0 Cryptic Donor Strongly Activated 68438591 0.000887 58.7333 3.84709 0.18668 68.6158 transversion C A C>A 0.984 3.192 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S342Y|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.7878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62543828 9 68438639 G T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438639 68438639 Chr9(GRCh37):g.68438639G>T 974 974 NR_033907.2:n.974C>A 5 45 3' 92.9953 11.0214 0.986563 IV.98 92.9953 11.0214 0.986563 5.02273 0 rs62543828 yes no Frequency 1 0.000000 0 transversion C A C>A 0.992 0.367 255 PASS . . . . . . . . . . . . . . . . 0.74509805 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cAt|P325H|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.1893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.5 0.49 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62543828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62543828 rs62543828 rs62543828 rs62543828 1 1538 10 1/0 0,255,255 +. 9 68438653 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438653 68438653 Chr9(GRCh37):g.68438653T>C 960 960 NR_033907.2:n.960A>G 5 31 3' 92.9953 11.0214 0.986563 IV.98 92.9953 11.0214 0.986563 4.98694 0 Cryptic Acceptor Weakly Activated 68438644 2.92465 0.011985 76.9456 3.10524 0.018813 77.072 transition A G A>G 1.000 2.627 221 PASS . . . . . . . . . . . . . . . . 0.21818182 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 55.0 . . STOP_LOST(HIGH|MISSENSE|tgA/tgG|*320W|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.5549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879221214 9 68438656 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438656 68438656 Chr9(GRCh37):g.68438656C>T 957 957 NR_033907.2:n.957G>A 5 28 3' 92.9953 11.0214 0.986563 IV.98 92.9953 11.0214 0.986563 V.42 0 rs879221214 no no 0 0.000000 0 transition G A G>A 1.000 1.820 191 PASS . . . . . . . . . . . . . . . . 0.13793103 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 58.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W319*|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.2090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs62555121 9 69002271 T A - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution exon GRCh37 69002271 69002271 Chr9(GRCh37):g.69002271T>A 51 51 NR_031629.1:n.51A>T 1 rs62555121 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1056 166 2 26 6 2 762 52 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 304 Exomes transversion A T A>T 0.000 -14.080 161 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccT|P17|MIR1299|Non-coding_transcript|NON_CODING|NR_031629|NR_031629.ex.1) . . . . . . . -0.1657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.59 0.26 182 ENSG00000239070 . MIR1299 . dist\x3d204058\x3bdist\x3d63275 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62555121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-161 . . . . . . . . . . . . rs62555121 rs62555121 rs62555121 rs62555121 1 1538 10 1/0 0,255,255 +rs773681988 9 69002283 A T - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution exon GRCh37 69002283 69002283 Chr9(GRCh37):g.69002283A>T 39 39 NR_031629.1:n.39T>A 1 rs773681988 yes no Frequency 1 0.000000 0 0.001000 0.008475 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.008475 1 1 0 0 0 0 0 0 0 1000 118 2 24 8 4 754 52 38 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 336 Exomes transversion T A T>A 0.000 -14.080 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaA|N13K|MIR1299|Non-coding_transcript|NON_CODING|NR_031629|NR_031629.ex.1) . . . . . . . -0.1680 . . . . . . . . 3.723e-04 . . . 0.0116 0.0027 0 0 0 0 0 . 0.0128 0.0039 0 0 0 0 . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000239070 . MIR1299 . dist\x3d204070\x3bdist\x3d63263 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs773681988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0085 0.001 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs200401671 9 69002295 G A - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution exon GRCh37 69002295 69002295 Chr9(GRCh37):g.69002295G>A 27 27 NR_031629.1:n.27C>T 1 rs200401671 yes no Frequency 1 0.000000 0 0.001976 0.008065 0.000000 0.000000 0.000000 0.000000 0.001340 0.000000 0.000000 0.008065 2 1 0 0 0 0 1 0 0 1012 124 6 24 8 6 746 54 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 467 Exomes transition C T C>T 0.000 -14.080 220 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y9|MIR1299|Non-coding_transcript|NON_CODING|NR_031629|NR_031629.ex.1) . . . . . . . -0.1647 . . . . . . . . 3.729e-04 . . . 0.0125 0.0026 0 0 0 0 0 0 0.0137 0.0039 0 0 0 0 0 0 . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.63 0.26 182 ENSG00000239070 . MIR1299 . dist\x3d204082\x3bdist\x3d63251 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200401671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0081 0.0020 0 0 0 0 0.0013 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs200401671 rs200401671 1 1538 10 1/0 0,252,255 +. 9 69002335 C T - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution upstream GRCh37 69002335 69002335 Chr9(GRCh37):g.69002335C>T -14 -14 NR_031629.1:n.-14G>A p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1020 156 6 30 6 2 730 46 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 528 Exomes transition G A G>A 0.000 -14.080 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . UPSTREAM(MODIFIER||||MIR1299|Non-coding_transcript|NON_CODING|NR_031629|) . . . . . . . -0.1697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . . . . . . MIR1299 . dist\x3d204122\x3bdist\x3d63211 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 9 69002336 T C - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution upstream GRCh37 69002336 69002336 Chr9(GRCh37):g.69002336T>C -15 -15 NR_031629.1:n.-15A>G p.? p.? 1 transition A G A>G 0.000 -14.080 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . UPSTREAM(MODIFIER||||MIR1299|Non-coding_transcript|NON_CODING|NR_031629|) . . . . . . . -0.1697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . . . . . . MIR1299 . dist\x3d204123\x3bdist\x3d63210 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs2482270 9 69200747 G T - FOXD4L6 31986 Forkhead box D4-like 6 NM_001085476.1 -1 2725 1254 NP_001078945.1 Q3SYB3 substitution missense exon GRCh37 69200747 69200747 Chr9(GRCh37):g.69200747G>T 866 866 NM_001085476.1:c.866C>A p.Ala289Asp p.Ala289Asp 1 rs2482270 yes no Frequency 1 G 0.000000 0 0.000515 0.000540 0.000553 0.000821 0.000130 0.000351 0.000612 0.000681 0.000539 0.000821 32 5 5 1 1 2 15 2 1 62190 9258 9036 1218 7676 5700 24510 2936 1856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 5 5 1 1 2 15 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426741 Haematopoietic and lymphoid tissue 0.000567 3530 transversion C A C>A 0.055 -0.360 A Ala GCC 0.403 D Asp GAC 0.539 289 8 1 -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 133.94 0.00 Tolerated 1 III.45 good 9.921E-1 0.08629 206 PASS . . . . . . . . . . . ENSG00000204793:ENST00000377473:exon1:c.C866A:p.A289D FOXD4L6:uc004afi.2:exon1:c.C866A:p.A289D FOXD4L6:NM_001085476:exon1:c.C866A:p.A289D . . 0.1754386 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 57.0 . . . . . . . . . . -1.8287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.35 182 ENSG00000204793 FOXD4L6 FOXD4L6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 rs2482270 . . . . . . . . . . . . 8.376 . ENST00000377473 I.79 0.526 . 1.000000 Q3SYB3 . . . . . . . . . 0 0.0002 0.0002 0.0009 0 0 0.0004 0 0.0004 0.0011 0.0012 0.0064 0 0.0010 0.0009 0.0011 0.0018 . . . . -0.251 -0.251000 . . 1.000000 . . 1.0E-206 . . . . . . . . . -0.251 . . rs2482270 rs2482270 rs2482270 rs2482270 1 1538 10 1/0 0,255,255 +. 9 69200872 C T - FOXD4L6 31986 Forkhead box D4-like 6 NM_001085476.1 -1 2725 1254 NP_001078945.1 Q3SYB3 substitution synonymous exon GRCh37 69200872 69200872 Chr9(GRCh37):g.69200872C>T 741 741 NM_001085476.1:c.741G>A p.Pro247= p.Pro247Pro 1 0.000728 0.000254 0.000320 0.000896 0.000125 0.000586 0.001285 0.000996 0.000000 0.001285 50 3 3 1 1 3 35 4 0 68696 11796 9366 1116 7984 5118 27234 4016 2066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 3 3 1 1 3 35 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 P Pro CCG 0.115 P Pro CCA 0.274 247 186 PASS . . . . . . . . . . . ENSG00000204793:ENST00000377473:exon1:c.G741A:p.P247P FOXD4L6:uc004afi.2:exon1:c.G741A:p.P247P FOXD4L6:NM_001085476:exon1:c.G741A:p.P247P . . 0.12765957 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204793 FOXD4L6 FOXD4L6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0 0 0 0.0001 0 0.0006 0.0004 0.0016 0.0013 0.0048 0.0006 0.0012 0.0026 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 69201291 T A - FOXD4L6 31986 Forkhead box D4-like 6 NM_001085476.1 -1 2725 1254 NP_001078945.1 Q3SYB3 substitution stop gain exon GRCh37 69201291 69201291 Chr9(GRCh37):g.69201291T>A 322 322 NM_001085476.1:c.322A>T p.Lys108* p.Lys108* 1 Transcription factor, fork head COSM5425206|COSM5425206 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000567 747|3530 transversion A T A>T 1.000 3.272 K Lys AAG 0.575 * * TAG 0.234 108 255 PASS . . . . . . . . . . . ENSG00000204793:ENST00000377473:exon1:c.A322T:p.K108X FOXD4L6:uc004afi.2:exon1:c.A322T:p.K108X FOXD4L6:NM_001085476:exon1:c.A322T:p.K108X . . 0.4774775 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 111.0 . . . . . . . . . . 0.5176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.38 0.37 182 ENSG00000204793 FOXD4L6 FOXD4L6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . VII.37 . ENST00000377473 2.II 2.II . 1.000000 . . . . . . . . . 2.II . . . . . . . . . . . . . . . . . . . . . 1.005 1.005000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 1.005 . . rs7034645 rs7034645 rs7034645 rs7034645 1 1538 10 1/0 0,255,255 +rs751362141 9 69201479 G T - FOXD4L6 31986 Forkhead box D4-like 6 NM_001085476.1 -1 2725 1254 NP_001078945.1 Q3SYB3 substitution missense exon GRCh37 69201479 69201479 Chr9(GRCh37):g.69201479G>T 134 134 NM_001085476.1:c.134C>A p.Ala45Glu p.Ala45Glu 1 COSM6381811 Thyroid 0.001339 747 transversion C A C>A 0.000 0.125 A Ala GCG 0.107 E Glu GAG 0.583 45 8 1 -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Tolerated 1 III.63 good 9.997E-1 0.001068 207 PASS . . . . . . . . . . . ENSG00000204793:ENST00000377473:exon1:c.C134A:p.A45E FOXD4L6:uc004afi.2:exon1:c.C134A:p.A45E FOXD4L6:NM_001085476:exon1:c.C134A:p.A45E . . 0.17857143 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 56.0 . . . . . . . . . . -1.9509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.22 182 ENSG00000204793 FOXD4L6 FOXD4L6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.86 . . . . . . . . . . . . . IV.94 . ENST00000377473 I.56 I.56 . 1.000000 Q3SYB3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.083 0.083000 . . 1.000000 . . 1.0E-207 . . . . . . . . . 0.083 . . rs2482277 rs2482277 rs2482277 rs2482277 1 1538 10 1/0 0,255,255 +. 9 69218548 G GT - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 duplication frameshift exon GRCh37 69218548 69218549 Chr9(GRCh37):g.69218549dup 777 777 NM_001085457.1:c.777dup p.Leu260Thrfs*12 p.Leu260Thrfs*12 11 13 3' 0 0.681481 0.880315 0 0 0.681481 0.855598 0 -0.0140387 rs758567877 yes no Frequency 1 0.000000 0 0.000265 0.000451 0.000401 0.000000 0.000492 0.000388 0.000105 0.000000 0.000000 0.000492 12 2 3 0 3 2 2 0 0 45222 4432 7478 1206 6096 5152 19072 584 1202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 2 3 0 3 2 2 0 0 0 0 0 0 0 0 0 0 0 RF 56 Exomes COSM1462691 Pancreas 0.001152 1736 A 255 Pass . . . . . . . . . . . . CBWD6:uc004afj.4:exon11:c.777dupA:p.L260fs CBWD6:NM_001085457:exon11:c.777dupA:p.L260fs . . 0.3529412 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 51 . . FRAME_SHIFT(HIGH||||CBWD6|mRNA|CODING|NM_001085457|NM_001085457.ex.11) . . . . . . . . . . . . . . . . 1.392e-04 . . . 0 0.0005 0 0 0 0 0 0.0096 0 0.0016 0 0 0 0 . 0.0102 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000204790 CBWD6 CBWD6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758567877 . . . . . . ID\x3dCOSM1462691\x3bOCCURENCE\x3d10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0.0004 0 0.0005 0 0.0001 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs56296569 rs56296569 rs56296569 1 1538 10 1.I 0,11,45 +rs113253640 9 69245883 C T - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 substitution intron GRCh37 69245883 69245883 Chr9(GRCh37):g.69245883C>T 528+58 528+58 NM_001085457.1:c.528+58G>A p.? p.? 6 6 58 5' 87.5573 9.72159 0.98226 0 87.5573 9.72159 0.98226 0 0 rs113253640 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.165 0.770 213 PASS . . . . . . . . . . . . . . . . 0.19607843 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||CBWD6|mRNA|CODING|NM_001085457|) . . . . . . . 0.0029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.31 182 ENSG00000204790 CBWD6 CBWD6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113253640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs3908661 rs3908661 rs3908661 rs113253640 1 1538 10 1/0 0,255,255 +. 9 69253272 T C - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 substitution intron GRCh37 69253272 69253272 Chr9(GRCh37):g.69253272T>C 430+2332 430+2332 NM_001085457.1:c.430+2332A>G p.? p.? 4 4 2332 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 transition A G A>G 0.638 0.125 239 PASS . . . . . . . . . . . ENSG00000196400:ENST00000354995:exon1:c.T428C:p.M143T . . . . 0.28 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.4622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.38 0.15 182 ENSG00000196400 CBWD6 CBWD6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000354995 0.109 0.109 . 0.100000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.156 0.156000 . . 0.100000 . . 1.0E-239 . . . . . . . . . 0.156 . . rs1756506 rs1756506 rs1756506 rs1756506 1 1538 10 1/0 0,255,255 +. 9 69255640 C A - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 substitution missense exon GRCh37 69255640 69255640 Chr9(GRCh37):g.69255640C>A 394 394 NM_001085457.1:c.394G>T p.Asp132Tyr p.Asp132Tyr 4 -37 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 Cryptic Acceptor Strongly Activated 69255627 0.0621854 0.003437 65.0409 1.30363 0.037721 70.6375 Cobalamin (vitamin B12) biosynthesis CobW-like COSM5428573 Haematopoietic and lymphoid tissue 0.000283 3530 transversion G T G>T 1.000 1.658 D Asp GAC 0.539 Y Tyr TAC 0.562 132 11 1 -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 173.88 0.00 Tolerated 1 III.46 good 1,00E+00 0.004725 183 PASS . . . . . . . . . . . . CBWD6:uc004afj.4:exon4:c.G394T:p.D132Y CBWD6:NM_001085457:exon4:c.G394T:p.D132Y . . 0.121212125 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 66.0 . . . . . . . . . . -1.3922 -1.107 -1.392 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.281 @ . . . 0.53 0.37 182 ENSG00000204790 CBWD6 CBWD6 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.191 0.007 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.224 . . . LowAF 1 . . . . . . . . . . . . . VI.23 . . II.36 II.36 . 1.000000 Q4V339 . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . 0.609 . 0.163 0.163000 . . 1.000000 . . 1.0E-183 1.000 0.715 . 0.587 . . 0.660 . 0.117 0.163 . . rs62548542 rs62548542 rs62548542 rs62548542 1 1538 10 1/0 0,246,255 +. 9 69262437 C T - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 substitution synonymous exon GRCh37 69262437 69262437 Chr9(GRCh37):g.69262437C>T 51 51 NM_001085457.1:c.51G>A p.Glu17= p.Glu17Glu 1 -104 5' 83.176 6.42642 0.975166 2.72131 83.176 6.42642 0.975166 2.72131 0 transition G A G>A 1.000 0.286 E Glu GAG 0.583 E Glu GAA 0.417 17 205 PASS . . . . . . . . . . . . . . . . 0.1734694 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . 1.0893 1.349 1.089 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.162 @ . . . 0.59 0.49 182 ENSG00000204790 CBWD6 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.256 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-205 0.999 0.424 . 0.450 . . 0.204 . 0.088 . . . rs2989625 rs2989625 rs2989625 rs2989625 1 1538 10 1/0 0,233,255 +rs199736626 9 69385873 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69385873 69385873 Chr9(GRCh37):g.69385873C>T 319-9 319-9 NM_001098805.1:c.319-9C>T p.? p.? 3 2 -9 3' 72.3891 2.15552 0.001267 0 75.1009 2.01764 0.001842 0 0.142442 Cryptic Acceptor Weakly Activated 69385882 2.15552 0.001267 72.3891 2.01764 0.001842 75.1009 rs199736626 yes no Frequency 1 C 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000035 0.000000 0.000000 0.000035 1 0 0 0 0 0 1 0 0 56678 3424 8796 1188 7138 3450 28938 2624 1120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 38 Exomes transition C T C>T 0.000 -0.279 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.5834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.21 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199736626 . . . . . . . . . . . . . . . . . . . . 0 0.022 . . . . . . . 0 1.764e-05 0 0 0 0 3.456e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs199736626 rs199736626 1 1538 10 1/0 0,255,255 +rs200615607 9 69385875 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69385875 69385875 Chr9(GRCh37):g.69385875C>T 319-7 319-7 NM_001098805.1:c.319-7C>T p.? p.? 3 2 -7 3' 72.3891 2.15552 0.001267 0 73.8997 2.84267 0.001839 0 0.263704 Cryptic Acceptor Strongly Activated 69385882 2.15552 0.001267 72.3891 2.84267 0.001839 73.8997 rs200615607 yes no Frequency 1 C 0.000000 0 0.007569 0.001390 0.031409 0.005902 0.006764 0.045091 0.001371 0.000000 0.013462 0.045091 521 10 259 7 51 124 49 0 21 68834 7196 8246 1186 7540 2750 35752 4604 1560 0.000145 0.000000 0.000243 0.000000 0.000265 0.000000 0.000168 0.000000 0.000000 5 0 1 0 1 0 3 0 0 511 10 257 7 49 124 43 0 21 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427666 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -0.682 224 PASS . . . . . . . . . . . . . . . . 0.22857143 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.3429 . . . . . . . . 9.517e-05 . . . 0 0.0002 0.0005 0 0 0.0003 0 0 0 0.0002 0.0006 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.22 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200615607 . . . . . . . . . . . . . . . . . . . . 0 0.02 . . . . . . . 0.0032 0.0099 0.0332 0.0068 0.0076 0 0.0017 0.0212 0.0451 0 0.0003 0 0 0.0018 0 0.0004 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs4929513 rs4929513 rs4929513 rs200615607 1 1538 10 1/0 0,255,255 +. 9 69385988 A G - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69385988 69385988 Chr9(GRCh37):g.69385988A>G 425 425 NM_001098805.1:c.425A>G p.Tyr142Cys p.Tyr142Cys 3 -68 5' 72.3493 7.98261 0.586567 3.09002 72.3493 7.98261 0.586567 3.47884 0 Cryptic Donor Strongly Activated 69385983 3.6e-05 48.0325 2.17887 0.020206 60.184 Ankyrin repeat Ankyrin repeat-containing domain 0.001765 0.000000 0.001919 0.000000 0.000000 0.010667 0.000857 0.000000 0.004065 0.010667 14 0 2 0 0 8 3 0 1 7934 1118 1042 144 814 750 3502 318 246 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 2 0 0 8 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.054 Y Tyr TAT 0.438 C Cys TGT 0.448 142 12 5 American pika -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 234.48 0.00 Tolerated 0.16 II.66 bad 1.03E-4 5.317E-5 207 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon3:c.A425G:p.Y142C ANKRD20A4:uc004afn.3:exon3:c.A425G:p.Y142C ANKRD20A4:NM_001098805:exon3:c.A425G:p.Y142C . . 0.18 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.155 . . 50.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y142C|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.3) . . . . . . . -1.6542 -1.829 -1.654 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.638 . . exonic exonic exonic . . 0.032 @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.070 0.003 . . 37 . 0.493 . . 0.346 . . . 0.246 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.883 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.279 . . . . . 0.063 . 0.101 . HET 0.02 . . . . . . . . . . . . . III.56 . ENST00000357336 II.26 -4.51 . 0.120000 Q4UJ75 . . . . . 0.016 . . . 0 0.0048 0.0021 0 0 0 0.0051 0.0088 0.0107 0 0.0002 0 0 0 0 0.0003 0 . . 0.246 . -1.819 -1.819000 . . 0.120000 . . 1.0E-207 0.000 0.063 . 0.016 0.001 . 0.005 . 0.003 -1.819 -1.813 . . . . . 1 1538 10 1/0 0,255,255 +. 9 69389860 G A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69389860 69389860 Chr9(GRCh37):g.69389860G>A 493-79 493-79 NM_001098805.1:c.493-79G>A p.? p.? 4 3 -79 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 6.48561 0 Cryptic Acceptor Strongly Activated 69389869 0.001185 0.975216 0.000636 62.2739 transition G A G>A 0.000 0.367 145 PASS . . . . . . . . . . . . . . . . 0.103896104 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.0568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 9 69389866 T C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69389866 69389866 Chr9(GRCh37):g.69389866T>C 493-73 493-73 NM_001098805.1:c.493-73T>C p.? p.? 4 3 -73 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 VI.31 0 0.005854 0.009516 0.007911 0.000000 0.011424 0.000000 0.003530 0.006706 0.004178 0.011424 140 57 5 0 13 0 44 18 3 23914 5990 632 286 1138 0 12466 2684 718 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 140 57 5 0 13 0 44 18 3 0 0 0 0 0 0 0 0 0 RF 53 Genomes transition T C T>C 0.000 -0.198 204 PASS . . . . . . . . . . . . . . . . 0.17073171 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.3939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0095 0.0059 0.0079 0 0.0114 0.0067 0.0035 0.0042 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs368570151 9 69389881 G T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69389881 69389881 Chr9(GRCh37):g.69389881G>T 493-58 493-58 NM_001098805.1:c.493-58G>T p.? p.? 4 3 -58 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 6.70561 0 Cryptic Acceptor Strongly Activated 69389887 0.002279 0.725569 0.078047 86.1722 rs368570151 no no 0 G 0.000000 0 transversion G T G>T 0.000 -0.924 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.3191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs368570151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs368570151 rs368570151 1 1538 10 1/0 0,234,255 +. 9 69389925 C G - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69389925 69389925 Chr9(GRCh37):g.69389925C>G 493-14 493-14 NM_001098805.1:c.493-14C>G p.? p.? 4 3 -14 3' 85.5744 XI.09 0.972145 6.51783 83.1647 XI.04 0.971103 5.88283 -0.00768877 transversion C G C>G 0.000 -1.812 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.2799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 9 69389950 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution synonymous exon GRCh37 69389950 69389950 Chr9(GRCh37):g.69389950C>T 504 504 NM_001098805.1:c.504C>T p.Thr168= p.Thr168Thr 4 12 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.9676 6.56166 -0.00155841 Ankyrin repeat Ankyrin repeat-containing domain transition C T C>T 0.524 -0.117 T Thr ACC 0.361 T Thr ACT 0.243 168 195 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon4:c.C504T:p.T168T ANKRD20A4:uc004afn.3:exon4:c.C504T:p.T168T ANKRD20A4:NM_001098805:exon4:c.C504T:p.T168T . . 0.14705883 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T168|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.4) . . . . . . . 0.1876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 9 69389962 T C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution synonymous exon GRCh37 69389962 69389962 Chr9(GRCh37):g.69389962T>C 516 516 NM_001098805.1:c.516T>C p.Phe172= p.Phe172Phe 4 24 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 7.07805 0 Ankyrin repeat Ankyrin repeat-containing domain transition T C T>C 0.406 0.286 F Phe TTT 0.454 F Phe TTC 0.546 172 191 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon4:c.T516C:p.F172F ANKRD20A4:uc004afn.3:exon4:c.T516C:p.F172F ANKRD20A4:NM_001098805:exon4:c.T516C:p.F172F . . 0.13793103 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F172|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.4) . . . . . . . 0.0194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.29 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs28553412 rs28553412 rs28553412 rs28553412 1 1538 10 1/0 0,253,255 +. 9 69389963 G A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69389963 69389963 Chr9(GRCh37):g.69389963G>A 517 517 NM_001098805.1:c.517G>A p.Ala173Thr p.Ala173Thr 4 25 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 5.87672 0 Ankyrin repeat Ankyrin repeat-containing domain transition G A G>A 0.374 1.577 A Ala GCT 0.263 T Thr ACT 0.243 173 12 11 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 208.40 31.45 Deleterious 0 II.66 bad 1.194E-5 2.111E-5 197 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon4:c.G517A:p.A173T ANKRD20A4:uc004afn.3:exon4:c.G517A:p.A173T ANKRD20A4:NM_001098805:exon4:c.G517A:p.A173T . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.463 . @ . . . . . 1 0.571 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A173T|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.4) . . . . . . . -0.1261 -0.295 -0.126 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.818 . . exonic exonic exonic . . 0.273 @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.559 0.034 . . 37 . 0.812 . . 0.755 . . . 0.933 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.612 . . 0 0 0 0 0 0 . 0.413 . . 0.331 . . . . . . 0 0.682 . . . . . 0.293 . 0.589 . HET 0.01 . . . . . . . . . . . . . VII.99 . ENST00000357336 II.26 II.26 . 0.000000 Q4UJ75 . . . . . 0.319 . . II.26 . . . . . . . . . . . . . . . . . . . 0.246 . 1.256 1.256000 . . 0.000000 . . 1.0E-197 0.993 0.376 . 0.043 0.086 . 0.623 . 0.280 1.256 0.697 . . . . . 1 1538 10 1/0 0,255,255 +. 9 69391098 T C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution synonymous exon GRCh37 69391098 69391098 Chr9(GRCh37):g.69391098T>C 606 606 NM_001098805.1:c.606T>C p.Ala202= p.Ala202Ala 5 7 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.985908 2.75053 7.71041e-05 Ankyrin repeat Ankyrin repeat-containing domain 0.000730 0.002097 0.000000 0.000000 0.000000 0.000000 0.000238 0.000321 0.000000 0.002097 19 15 0 0 0 0 3 1 0 26016 7152 674 216 1436 0 12628 3112 798 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 15 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 49 Genomes transition T C T>C 0.004 -2.942 A Ala GCT 0.263 A Ala GCC 0.403 202 244 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon5:c.T606C:p.A202A ANKRD20A4:uc004afn.3:exon5:c.T606C:p.A202A ANKRD20A4:NM_001098805:exon5:c.T606C:p.A202A . . 0.29411766 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 34.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A202|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.5) . . . . . . . -1.1144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0007 0 0 0 0.0003 0.0002 0 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796094018 9 69391111 G A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69391111 69391111 Chr9(GRCh37):g.69391111G>A 619 619 NM_001098805.1:c.619G>A p.Val207Ile p.Val207Ile 5 20 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.986758 2.1248 0.000364554 Ankyrin repeat Ankyrin repeat-containing domain rs796094018 no no 0 G 0.000000 0 0.001893 0.005743 0.001678 0.000000 0.000000 0.000000 0.000338 0.001068 0.001319 0.005743 45 36 1 0 0 0 4 3 1 23768 6268 596 208 1296 0 11832 2810 758 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 36 1 0 0 0 4 3 1 0 0 0 0 0 0 0 0 0 RF 50 Genomes COSM131405|COSM131405 Liver|Central nervous system 0.000422|0.000424 2371|2361 transition G A G>A 0.031 -0.279 V Val GTA 0.114 I Ile ATA 0.163 207 12 2 Chimp 3 3 4 0 0 5.IX 5.II 84 111 29 C0 273.19 0.00 Tolerated 0.41 II.66 bad 4.044E-3 0.0001772 255 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon5:c.G619A:p.V207I ANKRD20A4:uc004afn.3:exon5:c.G619A:p.V207I ANKRD20A4:NM_001098805:exon5:c.G619A:p.V207I . . 0.36842105 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.023 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V207I|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.5) . . . . . . . -1.4500 -1.515 -1.450 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.680 . . exonic exonic exonic . . 0.097 @ . . . 0.37 0.3 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.228 0.009 . . 37 . 0.481 . . 0.269 . . . 0.514 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.174 . . 0 0 0 0 0 0 . 0.189 . . 0.154 . . . . . . 0 0.090 . . . . . 0.099 . 0.152 . HET 0.36 . . . . . . . . . . . . . IV.07 . ENST00000357336 I.52 -0.966 . 0.460000 Q4UJ75 . . . . . 0.081 . . . . . . . . . . . . 0.0057 0.0019 0.0017 0 0 0.0011 0.0003 0.0013 . . 0.246 . -0.795 -0.795000 . . 0.460000 . . 1.0E-255 0.746 0.288 . 0.043 0.044 . 0.234 . 0.017 -0.795 -0.290 . . . . . 1 1538 10 1/0 0,255,255 +. 9 69391114 T C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69391114 69391114 Chr9(GRCh37):g.69391114T>C 622 622 NM_001098805.1:c.622T>C p.Tyr208His p.Tyr208His 5 23 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.98568 2.91823 0 Ankyrin repeat Ankyrin repeat-containing domain 0.002248 0.006425 0.003322 0.000000 0.000768 0.000000 0.000595 0.000730 0.001348 0.006425 53 40 2 0 1 0 7 2 1 23578 6226 602 206 1302 0 11760 2740 742 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 40 2 0 1 0 7 2 1 0 0 0 0 0 0 0 0 0 RF 49 Genomes transition T C T>C 0.000 -0.440 Y Tyr TAC 0.562 H His CAC 0.587 208 12 3 Frog 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 275.98 0.00 Tolerated 0.55 II.66 bad 6.862E-4 5.317E-5 255 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon5:c.T622C:p.Y208H ANKRD20A4:uc004afn.3:exon5:c.T622C:p.Y208H ANKRD20A4:NM_001098805:exon5:c.T622C:p.Y208H . . 0.39473686 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.024 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y208H|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.5) . . . . . . . -1.7418 -1.820 -1.742 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.643 . . exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.173 0.007 . . 37 . 0.401 . . 0.251 . . . 0.042 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.067 . . . . . 0.037 . 0.048 . HET 0.56 . . . . . . . . . . . . . 2.244 . ENST00000357336 I.52 0.174 . 0.550000 Q4UJ75 . . . . . 0.012 . . . . . . . . . . . . 0.0064 0.0022 0.0033 0 0.0008 0.0007 0.0006 0.0013 . . 0.246 . -1.743 -1.743000 . . 0.550000 . . 1.0E-255 0.001 0.137 . 0.016 0.001 . 0.140 . 0.000 -1.743 -1.882 . . . . . 1 1538 10 1/0 0,255,255 +rs199996482 9 69423558 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution synonymous exon GRCh37 69423558 69423558 Chr9(GRCh37):g.69423558C>T 1854 1854 NM_001098805.1:c.1854C>T p.Ser618= p.Ser618Ser 15 357 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs199996482 yes no Frequency 1 C 0.000000 0 0.007482 0.005503 0.000699 0.004587 0.000552 0.002410 0.008357 0.027954 0.003571 0.027954 809 64 10 14 6 21 385 299 10 108132 11630 14302 3052 10868 8714 46070 10696 2800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 809 64 10 14 6 21 385 299 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3718715|COSM3718715|COSM3718715|COSM3718715 Upper aerodigestive tract|Thyroid|Liver|Breast 0.001608|0.001339|0.001687|0.000819 1244|747|2371|2442 transition C T C>T 0.000 -2.054 S Ser AGC 0.243 S Ser AGT 0.149 618 219 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C1854T:p.S618S ANKRD20A4:uc004afn.3:exon15:c.C1854T:p.S618S ANKRD20A4:NM_001098805:exon15:c.C1854T:p.S618S . . 0.21014492 . . @ 29 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S618|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -0.6742 . . . . . . . . 7.751e-03 . . . 0.1235 0.1067 0.0729 0.0640 0.08 0.1138 0.0517 0.1165 0.1046 0.0540 0.0621 0.0476 0.0714 0.0323 0 0.1145 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.39 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199996482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0047 0.0081 0.0004 0.0042 0.0005 0.0333 0.0099 0.0038 0.0024 0.0063 0.0050 0.0062 0.0102 0.0007 0.0115 0.0033 0.0028 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs2633907 rs2633907 rs2633907 rs199996482 1 1538 10 1/0 0,222,255 +rs77404847 9 69423755 G C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423755 69423755 Chr9(GRCh37):g.69423755G>C 2051 2051 NM_001098805.1:c.2051G>C p.Ser684Thr p.Ser684Thr 15 554 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs77404847 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127620 6550 17286 5406 11296 11664 63084 9516 2818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 44 Exomes COSM4987850|COSM4987850|COSM4987850 Soft tissue|Liver|Haematopoietic and lymphoid tissue 0.001838|0.000844|0.000283 544|2371|3530 transversion G C G>C 0.197 -0.117 S Ser AGT 0.149 T Thr ACT 0.243 684 12 3 Frog 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 0.96 II.66 good 9.506E-1 0.0001277 218 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.G2051C:p.S684T ANKRD20A4:uc004afn.3:exon15:c.G2051C:p.S684T ANKRD20A4:NM_001098805:exon15:c.G2051C:p.S684T . . 0.20967741 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.030 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S684T|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.5863 -1.569 -1.586 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.133 @ . . . 0.4 0.38 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.479 0.208 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.058 . . 0.357 . . . 0.011 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.040 . . . . . 0.033 . 0.120 . HET 0.11 rs202189725 . . . . . . . . . . . . 2.0612 . ENST00000357336 II.26 -1.49E-4 . 0.360000 Q4UJ75 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.581 -0.581000 . . 0.360000 . . 1.0E-218 0.002 0.151 . 0.074 0.274 . 0.297 . 0.062 -0.581 -1.065 . . . rs77404847 rs202189725 1 1538 10 1/0 0,255,255 +rs200208176 9 69423770 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423770 69423770 Chr9(GRCh37):g.69423770C>T 2066 2066 NM_001098805.1:c.2066C>T p.Ser689Leu p.Ser689Leu 15 569 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 Cryptic Acceptor Strongly Activated 69423782 1.44376 0.008593 72.8598 1.56115 0.018836 76.1745 rs200208176 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 138784 6954 19224 6082 11898 13040 67812 10710 3064 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM4163983 Thyroid 0.001339 747 transition C T C>T 0.055 0.044 S Ser TCA 0.148 L Leu TTA 0.073 689 12 4 Platypus -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Tolerated 0.14 II.66 bad 2.871E-5 9.72E-5 200 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C2066T:p.S689L ANKRD20A4:uc004afn.3:exon15:c.C2066T:p.S689L ANKRD20A4:NM_001098805:exon15:c.C2066T:p.S689L . . 0.16071428 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.219 . @ . . . . . 1 0.213 . . 56.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S689L|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.1179 -1.203 -1.118 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.164 . . exonic exonic exonic . . 0.147 @ . . . 0.42 0.4 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.478 0.207 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.054 0.003 . . 37 . 0.162 . . 0.275 . . . 0.488 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.452 . . 0 0 0 0 0 0 . 0.178 . . 0.063 . . . . . . 0 0.564 . . . . . 0.142 . 0.275 . HET 0.01 rs200208176 . . . . . . ID\x3dCOSM4163983\x3bOCCURENCE\x3d1(thyroid) . . . . . 5.1523 . ENST00000357336 II.26 0.24 . 0.010000 Q4UJ75 . . . . . 0.121 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.081 -0.081000 . . 0.010000 . . 1.0E-200 0.398 0.259 . 0.043 0.947 . 0.248 . 0.277 -0.081 0.666 . . . rs200208176 rs200208176 1 1538 10 1/0 0,255,255 +rs75696372 9 69423792 A T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423792 69423792 Chr9(GRCh37):g.69423792A>T 2088 2088 NM_001098805.1:c.2088A>T p.Gln696His p.Gln696His 15 591 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs75696372 no no 0 A 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000000 0.000069 1 0 0 0 0 1 0 0 0 148004 7228 21530 6696 12558 14442 70816 11400 3334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 51 Exomes COSM5021593|COSM5021593 Liver|Bone 0.000422|0.001757 2371|569 transversion A T A>T 0.441 -0.924 Q Gln CAA 0.256 H His CAT 0.413 696 12 9 Tetraodon 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.01 II.66 good 8.424E-1 0.000574 230 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.A2088T:p.Q696H ANKRD20A4:uc004afn.3:exon15:c.A2088T:p.Q696H ANKRD20A4:NM_001098805:exon15:c.A2088T:p.Q696H . . 0.24528302 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.130 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caA/caT|Q696H|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.3028 -1.415 -1.303 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.241 . . exonic exonic exonic . . 0.042 @ . . . 0.35 0.42 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.882 0.256 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.109 0.004 . . 37 . 0.213 . . 0.351 . . . 0.581 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.683 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 0.912 . . . . . 0.118 . 0.347 . HET 0 rs75696372 . . . . . . . . . . . . IV.84 . ENST00000357336 II.26 -3.64 . 0.000000 Q4UJ75 . . . . . 0.182 . . . 0 6.757e-06 0 0 0 0 0 0 6.924e-05 . . . . . . . . . . 0.246 . -0.844 -0.844000 . . 0.000000 . . 1.0E-230 0.959 0.333 . 0.016 0.020 . 0.120 . 0.003 -0.844 -1.228 . . . rs75696372 rs75696372 1 1538 10 1/0 0,255,255 +rs773492536 9 69423796 A G - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423796 69423796 Chr9(GRCh37):g.69423796A>G 2092 2092 NM_001098805.1:c.2092A>G p.Asn698Asp p.Asn698Asp 15 595 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs773492536 yes no Frequency 1 G 0.000000 0 0.004713 0.000914 0.014268 0.000591 0.002638 0.023559 0.000801 0.000302 0.006273 0.023559 760 10 297 4 35 323 63 4 24 161268 10946 20816 6764 13268 13710 78690 13248 3826 0.004353 0.000914 0.013163 0.000296 0.002412 0.022611 0.000635 0.000151 0.005750 351 5 137 1 16 155 25 1 11 58 0 23 2 3 13 13 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4596460 Upper aerodigestive tract 0.002412 1244 transition A G A>G 0.709 -0.037 N Asn AAC 0.536 D Asp GAC 0.539 698 12 2 Dog 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Tolerated 1 II.66 good 9.366E-1 0.0002637 177 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.A2092G:p.N698D ANKRD20A4:uc004afn.3:exon15:c.A2092G:p.N698D ANKRD20A4:NM_001098805:exon15:c.A2092G:p.N698D . . 0.10909091 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.004 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N698D|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -2.0323 -1.913 -2.032 c . . . . . 5.999e-05 . . . 0 2.073e-05 0 0 0 4.285e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.103 . . exonic exonic exonic . . 0.087 @ . . . 0.36 0.45 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.523 0.211 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.018 . . 0.410 . . . 0.005 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.070 . 0.024 . LowAF 1 rs773492536 . . . . . . . . . . . . III.94 . ENST00000357336 II.26 -1.3 . 1.000000 Q4UJ75 . . . . . 0.033 . . . 0.0014 0.0052 0.0145 0.0003 0.0029 0.0002 0.0008 0.0071 0.0236 0 0.0009 0.0021 0.0118 0 0.0009 0.0012 0.0017 . . 0.246 . -0.480 -0.480000 . . 1.000000 . . 1.0E-177 1.000 0.715 . 0.016 0.010 . 0.442 . 0.004 -0.480 -1.818 . rs1828257 rs1828257 rs1828257 rs1828257 1 1538 10 1.I 0,0,0 +rs202130567 9 69423821 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423821 69423821 Chr9(GRCh37):g.69423821C>T 2117 2117 NM_001098805.1:c.2117C>T p.Thr706Ile p.Thr706Ile 15 620 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs202130567 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136402 6904 19020 5948 11812 13062 67384 9252 3020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Exomes transition C T C>T 0.016 -0.440 T Thr ACA 0.280 I Ile ATA 0.163 706 12 2 Chimp -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.34 II.66 good 9.239E-1 0.1294 206 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C2117T:p.T706I ANKRD20A4:uc004afn.3:exon15:c.C2117T:p.T706I ANKRD20A4:NM_001098805:exon15:c.C2117T:p.T706I . . 0.17741935 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.044 . @ . . . . . 1 0.021 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T706I|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.6871 -1.578 -1.687 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.162 . . exonic exonic exonic . . 0.120 @ . . . 0.39 0.37 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.512 0.210 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.026 . . 0.407 . . . 0.002 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.050 . . . . . 0.054 . 0.179 . HET 0.54 rs202130567 . . . . . . . . . . . . II.11 . ENST00000357336 II.26 -0.342 . 0.750000 Q4UJ75 . . . . . 0.095 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.304 -0.304000 . . 0.750000 . . 1.0E-206 1.000 0.715 . 0.016 0.004 . 0.315 . 0.012 -0.304 -2.007 . . . rs202130567 rs202130567 1 1538 10 1/0 0,254,255 +rs200306562 9 69423823 C A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423823 69423823 Chr9(GRCh37):g.69423823C>A 2119 2119 NM_001098805.1:c.2119C>A p.Gln707Lys p.Gln707Lys 15 622 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs200306562 no no 0 C 0.000000 0 COSM4163984 Thyroid 0.001339 747 transversion C A C>A 0.433 0.044 Q Gln CAG 0.744 K Lys AAG 0.575 707 12 2 Chimp 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 1 II.66 good 8.08E-1 0.0002853 198 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C2119A:p.Q707K ANKRD20A4:uc004afn.3:exon15:c.C2119A:p.Q707K ANKRD20A4:NM_001098805:exon15:c.C2119A:p.Q707K . . 0.15625 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.021 . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Aag|Q707K|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.6081 -1.493 -1.608 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.117 . . exonic exonic exonic . . 0.187 @ . . . 0.45 0.43 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.502 0.209 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.028 . . 0.427 . . . 0.002 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.259 . 0.266 . HET 1 rs200306562 . . . . . . ID\x3dCOSM4163984\x3bOCCURENCE\x3d1(thyroid) . . . . . VII.17 . ENST00000357336 II.26 0.968 . 1.000000 Q4UJ75 . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.289 -0.289000 . . 1.000000 . . 1.0E-198 1.000 0.715 . 0.074 0.030 . 0.475 . 0.090 -0.289 -0.930 . . . rs200306562 rs200306562 1 1538 10 1/0 0,250,255 +rs201501857 9 69423844 C G - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423844 69423844 Chr9(GRCh37):g.69423844C>G 2140 2140 NM_001098805.1:c.2140C>G p.Gln714Glu p.Gln714Glu 15 643 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 Cryptic Donor Strongly Activated 69423839 0.001283 56.1318 2.40618 0.04694 68.8277 rs201501857 no no 0 C 0.000000 0 COSM4609855 Haematopoietic and lymphoid tissue 0.000850 3530 transversion C G C>G 0.913 2.062 Q Gln CAA 0.256 E Glu GAA 0.417 714 12 8 Frog 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 353.86 0.00 Tolerated 0.16 II.66 bad 4.158E-5 7.584E-5 183 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C2140G:p.Q714E ANKRD20A4:uc004afn.3:exon15:c.C2140G:p.Q714E ANKRD20A4:NM_001098805:exon15:c.C2140G:p.Q714E . . 0.121212125 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.192 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q714E|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -0.0314 -0.209 -0.031 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.113 . . exonic exonic exonic . . 0.273 @ . . . 0.5 0.5 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.528 0.211 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.036 0.002 . . 37 . 0.216 . . 0.044 . . . 0.707 0.247 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.523 . . 0.538 . . . . . . 0 0.654 . . . . . 0.420 . 0.332 . LowAF 0.07 rs201501857 . . . . . . . . . . . . X.06 . ENST00000357336 II.26 II.26 . 0.030000 Q4UJ75 . . . . . 0.358 . . II.26 . . . . . . . . . . . . . . . . . . . 0.246 . 1.256 1.256000 . . 0.030000 . . 1.0E-183 1.000 0.715 . 0.074 0.098 . 0.418 . 0.277 1.256 0.666 . . . rs201501857 rs201501857 1 1538 10 1/0 0,246,255 +rs202042730 9 69423863 T A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423863 69423863 Chr9(GRCh37):g.69423863T>A 2159 2159 NM_001098805.1:c.2159T>A p.Val720Glu p.Val720Glu 15 662 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs202042730 no no 0 T 0.000000 0 COSM1191864|COSM1191864|COSM1191864|COSM1191864 Thyroid|Liver|Haematopoietic and lymphoid tissue|Central nervous system 0.005355|0.000422|0.000567|0.002965 747|2371|3530|2361 transversion T A T>A 0.575 1.739 V Val GTG 0.468 E Glu GAG 0.583 720 12 6 Chicken -3 -2 -4 0 0.92 5.IX 12.III 84 83 121 C0 353.86 0.00 Deleterious 0.02 II.66 bad 1.377E-5 0.0001772 185 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.T2159A:p.V720E ANKRD20A4:uc004afn.3:exon15:c.T2159A:p.V720E ANKRD20A4:NM_001098805:exon15:c.T2159A:p.V720E . . 0.125 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.385 . @ . . . . . 1 0.346 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gAg|V720E|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -0.1762 -0.335 -0.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.231 . . exonic exonic exonic . . 0.273 @ . . . 0.5 0.51 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.311 0.193 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.153 0.006 . . 37 . 0.294 . . 0.091 . . . 0.463 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.601 . . 0 0 0 0 0 0 . 0.629 . . 0.486 . . . . . . 0 0.912 . . . . . 0.297 . 0.373 . LowAF 0.17 rs202042730 . . . . . . . . . . . . 8.0702 . ENST00000357336 II.26 II.26 . 0.140000 Q4UJ75 . . . . . 0.284 . . II.26 . . . . . . . . . . . . . . . . . . . 0.246 . 1.033 1.033000 . . 0.140000 . . 1.0E-185 1.000 0.715 . 0.043 0.066 . 0.425 . 0.011 1.033 0.755 . . . rs202042730 rs202042730 1 1538 10 1/0 0,243,255 +rs879001092 (chr9:69432667 T/A) 9 69432667 T A Not on a known gene +rs878927560 (chr9:69432670 T/G) 9 69432670 T G Not on a known gene +rs200888394 (chr9:69432697 A/G) 9 69432697 A G Not on a known gene +rs202014097 (chr9:69432706 G/A) 9 69432706 G A Not on a known gene +rs199959869 (chr9:69432728 G/A) 9 69432728 G A Not on a known gene +. (chr9:69640049 T/C) 9 69640049 T C No Alamut gene - other known genes: AQP7P2 AQP7P2 +. (chr9:69718839 A/C) 9 69718839 A C Not on a known gene +. (chr9:69721340 G/A) 9 69721340 G A Not on a known gene +rs4247954 (chr9:69721452 A/G) 9 69721452 A G Not on a known gene +. (chr9:69721556 A/G) 9 69721556 A G Not on a known gene +. (chr9:69721646 A/G) 9 69721646 A G Not on a known gene +. (chr9:69777428 A/G) 9 69777428 A G Not on a known gene +. (chr9:70086876 A/C) 9 70086876 A C Not on a known gene +. (chr9:70144089 A/G) 9 70144089 A G Not on a known gene +. (chr9:70144139 T/G) 9 70144139 T G Not on a known gene +rs4114512 (chr9:70144165 G/A) 9 70144165 G A Not on a known gene +. (chr9:70144166 G/A) 9 70144166 G A Not on a known gene +rs368640590 (chr9:70144181 G/A) 9 70144181 G A Not on a known gene +. 9 70176817 G A - FOXD4L5 18522 Forkhead box D4-like 5 NM_001126334.1 -1 3109 1251 NP_001119806.1 Q5VV16 substitution synonymous exon GRCh37 70176817 70176817 Chr9(GRCh37):g.70176817G>A 1167 1167 NM_001126334.1:c.1167C>T p.Ser389= p.Ser389Ser 1 transition C T C>T 0.937 0.286 S Ser AGC 0.243 S Ser AGT 0.149 389 203 PASS . . . . . . . . . . . ENSG00000204779:ENST00000377420:exon1:c.C1167T:p.S389S FOXD4L5:uc010moc.3:exon1:c.C1167T:p.S389S FOXD4L5:NM_001126334:exon1:c.C1167T:p.S389S . . 0.1724138 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 29.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S389|FOXD4L5|mRNA|CODING|NM_001126334|NM_001126334.ex.1) . . . . . . . -0.0089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204779 FOXD4L5 FOXD4L5 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs202028497 (chr9:70182158 C/T) 9 70182158 C T Not on a known gene +rs3880885 (chr9:70194960 T/A) 9 70194960 T A Not on a known gene +rs3880886 (chr9:70195007 C/T) 9 70195007 C T Not on a known gene +rs62552651 (chr9:70206093 G/A) 9 70206093 G A Not on a known gene +. (chr9:70206152 AG/A) 9 70206152 AG A Not on a known gene +rs201972164 (chr9:70214675 C/T) 9 70214675 C T Not on a known gene +rs200316765 (chr9:70214680 C/T) 9 70214680 C T Not on a known gene +. (chr9:70214784 CTT/C) 9 70214784 CTT C Not on a known gene +rs199945716 (chr9:70214807 C/T) 9 70214807 C T Not on a known gene +rs2482146 (chr9:70214863 T/C) 9 70214863 T C Not on a known gene +. (chr9:70335036 A/C) 9 70335036 A C Not on a known gene +. (chr9:70335057 A/G) 9 70335057 A G Not on a known gene +. (chr9:70337624 A/C) 9 70337624 A C Not on a known gene +rs28718004 (chr9:70337642 A/C) 9 70337642 A C Not on a known gene +. (chr9:70394567 A/G) 9 70394567 A G Not on a known gene +rs4114513 (chr9:70394617 T/G) 9 70394617 T G Not on a known gene +. (chr9:70394643 G/A) 9 70394643 G A Not on a known gene +. (chr9:70394644 G/A) 9 70394644 G A Not on a known gene +rs12375893 (chr9:70394659 G/A) 9 70394659 G A Not on a known gene +rs9696837 (chr9:70394777 T/C) 9 70394777 T C Not on a known gene +. 9 70427733 G A - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution synonymous exon GRCh37 70427733 70427733 Chr9(GRCh37):g.70427733G>A 1167 1167 NM_199244.3:c.1167C>T p.Ser389= p.Ser389Ser 1 611085 transition C T C>T 0.260 1.174 S Ser AGC 0.243 S Ser AGT 0.149 389 230 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.C1167T:p.S389S FOXD4L2:uc004afx.1:exon1:c.C1167T:p.S389S FOXD4L4:NM_199244:exon1:c.C1167T:p.S389S . . 0.24 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . 0.0192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs10796795 9 70428061 C G - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution missense exon GRCh37 70428061 70428061 Chr9(GRCh37):g.70428061C>G 839 839 NM_199244.3:c.839G>C p.Gly280Ala p.Gly280Ala 1 611085 rs10796795 no no 0 C 0.000000 0 transversion G C G>C 0.000 0.044 G Gly GGG 0.250 A Ala GCG 0.107 280 12 2 Chimp 0 0 0 0.74 0 9 8.I 3 31 60 C0 204.94 0.00 Tolerated 0.68 II.65 255 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.G839C:p.G280A FOXD4L2:uc004afx.1:exon1:c.G839C:p.G280A FOXD4L4:NM_199244:exon1:c.G839C:p.G280A . . 0.5 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 36.0 . . . . . . . . . . -1.2793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.37 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 0.01 rs10796795 . . . . . . . . . . . . IV.52 . ENST00000377413 0.598 0.598 . 0.690000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.387 -0.387000 . . 0.690000 . . 1.0E-255 . . . . . . . . . -0.387 . . rs10796795 rs10796795 rs10796795 rs10796795 1 1538 10 1/0 0,255,255 +. 9 70428159 C T - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution synonymous exon GRCh37 70428159 70428159 Chr9(GRCh37):g.70428159C>T 741 741 NM_199244.3:c.741G>A p.Pro247= p.Pro247Pro 1 611085 transition G A G>A 0.992 0.528 P Pro CCG 0.115 P Pro CCA 0.274 247 197 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.G741A:p.P247P FOXD4L2:uc004afx.1:exon1:c.G741A:p.P247P FOXD4L4:NM_199244:exon1:c.G741A:p.P247P . . 0.15625 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.2651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 70428571 G C - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution missense exon GRCh37 70428571 70428571 Chr9(GRCh37):g.70428571G>C 329 329 NM_199244.3:c.329C>G p.Pro110Arg p.Pro110Arg 1 611085 Transcription factor, fork head transversion C G C>G 1.000 3.434 P Pro CCC 0.328 R Arg CGC 0.190 110 12 12 C. elegans -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C65 0.00 102.71 Deleterious 0 II.65 209 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.C329G:p.P110R FOXD4L2:uc004afx.1:exon1:c.C329G:p.P110R FOXD4L4:NM_199244:exon1:c.C329G:p.P110R . . 0.18390805 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . 0.2034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.29 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . VII.24 . ENST00000377413 0.598 0.598 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.655 0.655000 . . 0.000000 . . 1.0E-209 . . . . . . . . . 0.655 . . rs4929762 rs4929762 rs4929762 rs4929762 1 1538 10 1/0 0,240,255 +rs796602695 9 70428651 A G - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution synonymous exon GRCh37 70428651 70428651 Chr9(GRCh37):g.70428651A>G 249 249 NM_199244.3:c.249T>C p.Pro83= p.Pro83Pro 1 611085 rs796602695 no no 0 A 0.000000 0 transition T C T>C 0.433 -0.198 P Pro CCT 0.283 P Pro CCC 0.328 83 229 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.T249C:p.P83P FOXD4L2:uc004afx.1:exon1:c.T249C:p.P83P FOXD4L4:NM_199244:exon1:c.T249C:p.P83P . . 0.24324325 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.4487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.36 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs4929761 rs4929761 rs4929761 rs4929761 1 1538 10 1/0 0,255,255 +. 9 70428765 C T - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution synonymous exon GRCh37 70428765 70428765 Chr9(GRCh37):g.70428765C>T 135 135 NM_199244.3:c.135G>A p.Glu45= p.Glu45Glu 1 611085 transition G A G>A 0.496 0.932 E Glu GAG 0.583 E Glu GAA 0.417 45 227 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.G135A:p.E45E FOXD4L2:uc004afx.1:exon1:c.G135A:p.E45E FOXD4L4:NM_199244:exon1:c.G135A:p.E45E . . 0.23529412 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.3066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.27 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs3928179 rs3928179 rs3928179 rs3928179 1 1538 10 1/0 0,255,255 +. 9 70428893 G T - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution missense exon GRCh37 70428893 70428893 Chr9(GRCh37):g.70428893G>T 7 7 NM_199244.3:c.7C>A p.Leu3Met p.Leu3Met 1 611085 transversion C A C>A 0.984 -0.037 L Leu CTG 0.404 M Met ATG 1.000 3 12 10 C. elegans 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 244.82 0.00 Deleterious 0.05 II.88 222 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.C7A:p.L3M FOXD4L2:uc004afx.1:exon1:c.C7A:p.L3M FOXD4L4:NM_199244:exon1:c.C7A:p.L3M . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 45.0 . . . . . . . . . . -0.9596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.27 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.69 . ENST00000377413 0.598 0.598 . 0.010000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.387 -0.387000 . . 0.010000 . . 1.0E-222 . . . . . . . . . -0.387 . . rs2441583 rs2441583 rs2441583 rs2441583 1 1538 10 1/0 0,255,255 +. 9 70428929 T C - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution upstream GRCh37 70428929 70428929 Chr9(GRCh37):g.70428929T>C -30 -30 NM_199244.3:c.-30A>G p.? p.? 1 611085 transition A G A>G 0.102 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . . . . . . . . . -0.3058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 upstream . . . @ . . . 0.66 0.57 182 ENSG00000184659 FOXD4L2 FOXD4L4 ENST00000377413:c.-30A>G uc004afx.1:c.-30A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62550305 rs62550305 rs62550305 rs62550305 1 1538 10 1/0 0,255,255 +rs11263209 9 70432938 G A - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution stop gain exon GRCh37 70432938 70432938 Chr9(GRCh37):g.70432938G>A 922 922 NM_001024916.3:c.922C>T p.Arg308* p.Arg308* 12 -16 5' 87.3609 X.15 0.996078 5.19572 87.3609 X.15 0.996078 IV.02 0 Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal rs11263209 no no 0 G 0.000000 0 transition C T C>T 1.000 1.739 R Arg CGA 0.110 * * TGA 0.489 308 200 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 62.0 . . . . . . . . . . 0.5568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.48 0.63 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs11263209 . . . . . . . . . . . . 7.0452 . ENST00000489273 I.93 0.767 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.083 1.083000 . . 1.000000 . . 1.0E-200 . . . . . . . . . 1.083 . . rs11263209 rs11263209 rs2592638 rs11263209 1 1538 10 1/0 0,251,255 +. 9 70434189 T C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution missense exon GRCh37 70434189 70434189 Chr9(GRCh37):g.70434189T>C 796 796 NM_001024916.3:c.796A>G p.Ile266Val p.Ile266Val 11 -12 5' 71.7377 8.0427 0.504772 3.47914 71.7377 8.0427 0.504772 3.46027 0 New Donor Site 70434190 4.99721 0.233435 70.1044 Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal transition A G A>G 1.000 1.335 I Ile ATA 0.163 V Val GTA 0.114 266 12 11 Zebrafish 3 3 4 0 0 5.II 5.IX 111 84 29 C0 108.57 0.00 Tolerated 0.36 III.43 179 PASS . . . . . . . . . . . . . . . . 0.11214953 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 107.0 . . . . . . . . . . -0.3591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.07 . . . . . . . . . . . . . VII.45 . . I.89 I.89 . 0.380000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.866 0.866000 . . 0.380000 . . 1.0E-179 . . . . . . . . . 0.866 . . . . . . 1 1538 10 1/0 0,224,255 +. 9 70434222 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution missense exon GRCh37 70434222 70434222 Chr9(GRCh37):g.70434222C>T 763 763 NM_001024916.3:c.763G>A p.Val255Met p.Val255Met 11 22 3' 77.0626 3.27524 0.348203 2.52189 77.0626 3.27524 0.348203 1.98355 0 Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal transition G A G>A 0.945 0.609 V Val GTG 0.468 M Met ATG 1.000 255 12 8 Frog 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 107.78 0.00 Tolerated 0.1 III.43 233 PASS . . . . . . . . . . . . . . . . 0.25210086 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 119.0 . . . . . . . . . . -0.0819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.55 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . 6.1852 . . I.89 0.911 . 0.030000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.128 0.128000 . . 0.030000 . . 1.0000000000000001E-233 . . . . . . . . . 0.128 . . rs2445986 rs2445986 rs2445986 rs2445986 1 1538 10 1/0 0,232,255 +. 9 70434370 C A - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution stop gain exon GRCh37 70434370 70434370 Chr9(GRCh37):g.70434370C>A 718 718 NM_001024916.3:c.718G>T p.Glu240* p.Glu240* 10 -24 5' 83.4861 6.59747 0.610886 0 83.4861 6.59747 0.610886 0 0 Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal transversion G T G>T 1.000 3.434 E Glu GAA 0.417 * * TAA 0.277 240 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 44.0 . . . . . . . . . . 0.6692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.44 0.55 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.01 . . . . . . . . . . . . . IX.77 . ENST00000489273 I.89 I.89 . 0.190000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.047 1.047000 . . 0.190000 . . 1.0E-190 . . . . . . . . . 1.047 . . . . rs77876853 rs77876853 1 1538 10 1.I 0,0,0 +. 9 70446035 T G - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70446035 70446035 Chr9(GRCh37):g.70446035T>G 621-31 621-31 NM_001024916.3:c.621-31A>C p.? p.? 9 8 -31 3' 0 0.681481 0.880315 0 0 0.681481 0.880315 0 0 transversion A C A>C 0.323 -0.844 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.3694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 70465578 T G - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465578 70465578 Chr9(GRCh37):g.70465578T>G 575+1906 575+1906 NM_001024916.3:c.575+1906A>C p.? p.? 7 7 1906 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transversion A C A>C 0.016 0.932 198 PASS . . . . . . . . . . . . . . . . 0.15789473 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.0406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.36 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . rs12375938 rs12375938 rs12375938 rs12375938 1 1538 10 1/0 0,255,255 +. 9 70465584 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465584 70465584 Chr9(GRCh37):g.70465584C>T 575+1900 575+1900 NM_001024916.3:c.575+1900G>A p.? p.? 7 7 1900 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transition G A G>A 0.110 -0.198 199 PASS . . . . . . . . . . . . . . . . 0.26190478 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.0940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.33 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs3000521 rs3000521 rs3000521 rs3000521 1 1538 10 1/0 0,255,255 +. 9 70465589 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465589 70465589 Chr9(GRCh37):g.70465589C>T 575+1895 575+1895 NM_001024916.3:c.575+1895G>A p.? p.? 7 7 1895 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transition G A G>A 0.118 0.125 225 PASS . . . . . . . . . . . . . . . . 0.23255815 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.1763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.31 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . rs3000522 rs3000522 rs3000522 rs3000522 1 1538 10 1/0 0,255,255 +. 9 70465693 CTT C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 deletion intron GRCh37 70465694 70465695 Chr9(GRCh37):g.70465694_70465695del 575+1789 575+1790 NM_001024916.3:c.575+1789_575+1790del p.? p.? 7 7 1789 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 New Donor Site 70465696 2.336 0.108387 69.7943 AA 255 Pass . . . . . . . . . . . . . . . . 0.25 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71225120 rs71225120 rs71225120 1 1538 10 1.I 0,9,60 +. 9 70465716 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465716 70465716 Chr9(GRCh37):g.70465716C>T 575+1768 575+1768 NM_001024916.3:c.575+1768G>A p.? p.? 7 7 1768 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transition G A G>A 0.228 -0.279 240 PASS . . . . . . . . . . . . . . . . 0.2739726 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.9537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic UTR5 . . . @ . . . 0.43 0.6 182 ENSG00000147996 CBWD3 CBWD5 . . NM_001286835:c.-8523G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VI.66 . ENST00000489273 II.21 -2.67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.275 -0.275000 . . . . . 1.0E-240 . . . . . . . . . -0.275 . . rs12555584 rs12555584 rs12555584 rs12555584 1 1538 10 1/0 0,255,255 +. 9 70465772 T C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465772 70465772 Chr9(GRCh37):g.70465772T>C 575+1712 575+1712 NM_001024916.3:c.575+1712A>G p.? p.? 7 7 1712 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transition A G A>G 0.929 0.528 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.3897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic UTR5 . . . @ . . . 0.56 0.67 182 ENSG00000147996 CBWD3 CBWD5 . . NM_001286835:c.-8579A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.17 . . . . . . . . . . . . . V.74 . . II.21 II.21 . 0.250000 . . . . . . . . . II.21 . . . . . . . . . . . . . . . . . . . . . 1.027 1.027000 . . 0.250000 . . 1.0E-231 . . . . . . . . . 1.027 . . rs2482146 rs2482146 rs2482146 rs2482146 1 1538 10 1/0 0,255,255 +. 9 70473379 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70473379 70473379 Chr9(GRCh37):g.70473379C>T 528+58 528+58 NM_001024916.3:c.528+58G>A p.? p.? 6 6 58 5' 87.5573 9.72159 0.98226 0 87.5573 9.72159 0.98226 0 0 transition G A G>A 0.260 0.770 226 PASS . . . . . . . . . . . . . . . . 0.23404256 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.0432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.3 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . rs3908661 rs3908661 rs3908661 rs113253640 1 1538 10 1/0 0,255,255 +. 9 70475005 G C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70475005 70475005 Chr9(GRCh37):g.70475005G>C 490+14 490+14 NM_001024916.3:c.490+14C>G p.? p.? 5 5 14 5' 91.1822 11.0134 0.995432 0 91.1822 11.0134 0.995432 0 0 transversion C G C>G 0.000 -0.360 222 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.27 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs4518712 rs4518712 rs4518712 rs4518712 1 1538 10 1/0 0,255,255 +. 9 70475070 T C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution missense exon GRCh37 70475070 70475070 Chr9(GRCh37):g.70475070T>C 439 439 NM_001024916.3:c.439A>G p.Thr147Ala p.Thr147Ala 5 9 3' 93.0337 8.70211 0.723794 1.94254 93.0337 8.70211 0.748346 1.78407 0.0113071 Cobalamin (vitamin B12) biosynthesis CobW-like transition A G A>G 1.000 1.820 T Thr ACT 0.243 A Ala GCT 0.263 147 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 215.24 0.00 Tolerated 1 III.47 255 PASS . . . . . . . . . . . . . CBWD5:NM_001024916:exon5:c.A439G:p.T147A . . 0.33333334 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 33.0 . . . . . . . . . . -0.7093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.63 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . VII.99 . . II.41 II.41 . 1.000000 . . . . . . . . . II.41 . . . . . . . . . . . . . . . . . . . . . 0.355 0.355000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 0.355 . . rs4631513 rs4631513 rs4631513 rs4631513 1 1538 10 1/0 0,255,255 +rs2482178 9 70866145 A G - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70866145 70866145 Chr9(GRCh37):g.70866145A>G 430+2332 430+2332 NM_201453.3:c.430+2332A>G p.? p.? 4 4 611080 2332 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 rs2482178 no no 0 0.000000 0 transition A G A>G 0.669 0.205 255 PASS . . . . . . . . . . . ENSG00000228537:ENST00000417734:exon1:c.T428C:p.M143T . . . . 0.42424244 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.4336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.25 0.04 182 ENSG00000228537 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000417734 0.13 0.13 . 0.100000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.159 0.159000 . . 0.100000 . . 1.0E-255 . . . . . . . . . 0.159 . . rs1756506 rs1756506 rs1756506 rs1756506 1 1538 10 1/0 0,255,255 +rs200404980 9 70866335 C T - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70866335 70866335 Chr9(GRCh37):g.70866335C>T 430+2522 430+2522 NM_201453.3:c.430+2522C>T p.? p.? 4 4 611080 2522 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 rs200404980 no no 0 0.000000 0 0.000043 0.000142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000142 1 1 0 0 0 0 0 0 0 23362 7020 596 200 1274 0 11314 2252 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 23 Genomes transition C T C>T 0.102 0.205 249 PASS . . . . . . . . . . . ENSG00000228537:ENST00000417734:exon1:c.G238A:p.G80S . . . . 0.31034482 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.8313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.23 0.03 182 ENSG00000228537 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000417734 0.13 0.13 . 0.560000 . . . . . . . . . . . . . . . . . . . 0.0001 4.28e-05 0 0 0 0 0 0 . . . . 0.184 0.184000 . . 0.560000 . . 1.0E-249 . . . . . . . . . 0.184 . . rs1756507 rs1756507 rs1756507 rs1756507 1 1538 10 1/0 0,255,255 +rs11790792 9 70871944 G T - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70871944 70871944 Chr9(GRCh37):g.70871944G>T 490+48 490+48 NM_201453.3:c.490+48G>T p.? p.? 5 5 611080 48 5' 91.1822 11.0134 0.995432 0 91.1822 11.0134 0.995432 0 0 rs11790792 yes no Frequency/1000G 2 0.000000 0 0.141374 0.145200 0.130900 0.125000 0.146100 0.165700 transversion G T G>T 0.039 -2.297 111 PASS . . . . . 0.15 0.14 0.17 0.12 0.15 0.13 . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . -0.8578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1414 . . . 0.3 0.19 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs11790792 rs11790792 rs11790792 rs11790792 1 1538 255 1.I 0,0,255 +. 9 70873543 G A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70873543 70873543 Chr9(GRCh37):g.70873543G>A 528+58 528+58 NM_201453.3:c.528+58G>A p.? p.? 6 6 611080 58 5' 87.5573 9.72159 0.98226 0 87.5573 9.72159 0.98226 0 0 transition G A G>A 0.031 1.497 207 PASS . . . . . . . . . . . . . . . . 0.17910448 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . 0.1476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.3 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.73 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs3908661 rs3908661 rs3908661 rs113253640 1 1538 10 1/0 0,251,255 +rs200126793 9 70881158 A G - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution missense exon GRCh37 70881158 70881158 Chr9(GRCh37):g.70881158A>G 598 598 NM_201453.3:c.598A>G p.Ile200Val p.Ile200Val 8 611080 23 3' 85.0864 9.82364 0.971157 5.65979 85.0864 9.82364 0.971157 6.19013 0 CobW/HypB/UreG domain P-loop containing nucleoside triphosphate hydrolase rs200126793 no no 0 0.000000 0 COSM6378635 Thyroid 0.004016 747 transition A G A>G 0.984 0.448 I Ile ATT 0.356 V Val GTT 0.178 200 12 8 Baker's yeast 3 3 4 0 0 5.II 5.IX 111 84 29 C0 92.35 0.00 Tolerated 0.36 III.45 223 PASS . . . . . . . . . . . . . . . . 0.2244898 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.211 . @ . . . . . 1 0.323 . . 49.0 . . . . . . . . . . -0.3778 -0.270 -0.378 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.287 @ . . . 0.66 0.59 182 ENSG00000196873 CBWD3 CBWD3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . T 0.110 0.004 . . 37 . 0.268 . . 0.179 . . . 0.164 0.319 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.158 . . 0.240 . . . . . . 0 0.246 . . . . . 0.054 . 0.463 . HET 0.17 . . . . . . . . . . . . . II.46 . . III.61 II.44 . 0.180000 Q5JTY5 . . . . . 0.324 . . II.44 . . . . . . . . . . . . . . . . . . . 0.558 . 1.405 1.405000 . . 0.180000 . . 1.0E-223 1.000 0.715 . 0.456 0.981 . 0.318 . 0.332 1.405 1.062 . rs2482146 rs2482146 rs2482146 rs200126793 1 1538 10 1/0 0,255,255 +rs200932873 9 70881214 G A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution synonymous exon GRCh37 70881214 70881214 Chr9(GRCh37):g.70881214G>A 654 654 NM_201453.3:c.654G>A p.Thr218= p.Thr218Thr 8 611080 -9 5' 67.6062 3.23159 0.709382 0 67.6062 3.23159 0.709382 0 0 CobW/HypB/UreG domain P-loop containing nucleoside triphosphate hydrolase rs200932873 no no 0 0.000000 0 0.000100 0.000232 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 0.000232 2 1 0 0 0 0 1 0 0 20014 4306 546 184 1452 0 10496 2384 646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes COSM4007255 Urinary tract 0.001488 672 transition G A G>A 0.094 0.125 T Thr ACG 0.116 T Thr ACA 0.280 218 237 PASS . . . . . . . . . . . . . . . . 0.26436782 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . 0.0597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.6 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM4007255\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.993e-05 0 0 0 0 9.527e-05 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . rs12555584 rs12555584 rs12555584 rs12555584 1 1538 10 1/0 0,247,255 +. 9 70881341 G A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70881341 70881341 Chr9(GRCh37):g.70881341G>A 662+119 662+119 NM_201453.3:c.662+119G>A p.? p.? 8 8 611080 119 5' 67.6062 3.23159 0.709382 0 67.6062 3.23159 0.709382 0 0 0.000115 0.000436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000436 3 3 0 0 0 0 0 0 0 26038 6884 692 238 1552 0 13032 2848 792 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 25 Genomes transition G A G>A 0.000 -0.037 178 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 0.0431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.68 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs3000522 rs3000522 rs3000522 rs3000522 1 1538 10 1/0 0,240,255 +. 9 70889708 AT A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 deletion intron GRCh37 70889714 70889714 Chr9(GRCh37):g.70889714del 708-84 708-84 NM_201453.3:c.708-84del p.? p.? 10 9 611080 -84 3' 87.0175 8.16075 0.988317 1.77837 87.0175 8.16075 0.988317 1.77837 0 T 255 Pass . . . . . . . . . . . . . . . . 0.41379312 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,38 +. 9 70889877 AC A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 deletion intron GRCh37 70889878 70889878 Chr9(GRCh37):g.70889878del 764+24 764+24 NM_201453.3:c.764+24del p.? p.? 10 10 611080 24 5' 89.5197 9.78772 0.995794 0 89.5197 9.78772 0.995794 0 0 C 255 Pass . . . . . . . . . . . . . . . . 0.14473684 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,84 +. 9 70889938 C T - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70889938 70889938 Chr9(GRCh37):g.70889938C>T 764+84 764+84 NM_201453.3:c.764+84C>T p.? p.? 10 10 611080 84 5' 89.5197 9.78772 0.995794 0 89.5197 9.78772 0.995794 0 0 Cryptic Acceptor Strongly Activated 70889950 2.33766 0.000593 65.5163 3.01432 0.001061 68.831 transition C T C>T 0.000 -1.086 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.2037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.24 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs3124359 rs3124359 rs3124359 rs3124359 1 1538 10 1/0 0,255,255 +. 9 70901031 T C - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70901031 70901031 Chr9(GRCh37):g.70901031T>C 816+75 816+75 NM_201453.3:c.816+75T>C p.? p.? 11 11 611080 75 5' 82.8297 9.65432 0.964438 2.83051 82.8297 9.65432 0.964438 2.58288 0 0.000826 0.000000 0.000000 0.000000 0.000000 0.000000 0.001452 0.000000 0.003268 0.001452 8 0 0 0 0 0 7 0 1 9688 3094 176 104 296 0 4820 892 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 7 0 1 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition T C T>C 0.000 0.205 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.1430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0 0 0 0 0.0015 0.0033 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 70918001 C A - FOXD4L3 18523 Forkhead box D4-like 3 NM_199135.4 1 2218 1254 NP_954586.4 Q3SYB3 substitution missense exon GRCh37 70918001 70918001 Chr9(GRCh37):g.70918001C>A 134 134 NM_199135.4:c.134C>A p.Ala45Glu p.Ala45Glu 1 611086 0.000679 0.000454 0.001543 0.000000 0.003252 0.000000 0.000536 0.000338 0.001416 0.003252 16 3 1 0 4 0 6 1 1 23554 6610 648 204 1230 0 11194 2962 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 1 0 4 0 6 1 1 0 0 0 0 0 0 0 0 0 RF 26 Genomes COSM5956353|COSM5956353 Liver|Haematopoietic and lymphoid tissue 0.000422|0.000567 2371|3530 transversion C A C>A 0.000 -0.037 A Ala GCG 0.107 E Glu GAG 0.583 45 8 1 -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Tolerated 1 III.63 good 9.999E-1 0.001102 199 PASS . . . . . . . . . . . ENSG00000187559:ENST00000342833:exon1:c.C134A:p.A45E FOXD4L3:uc004agm.1:exon1:c.C134A:p.A45E FOXD4L3:NM_199135:exon1:c.C134A:p.A45E . . 0.15714286 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.061 . . 70.0 . . . . . . . . . . -1.8342 -1.783 -1.834 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.938 . . exonic exonic exonic . . 0.204 @ . . . 0.33 0.23 182 ENSG00000187559 FOXD4L3 FOXD4L3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.712 0.071 . . 37 . 0.741 . . 0.641 . . . 0.008 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.228 . 0.126 . HET 0.69 . . . . . . . . . . . . . VI.66 . ENST00000342833 II.45 I.25 . 1.000000 Q6VB84 . . . . . 0.003 . . . . . . . . . . . . 0.0005 0.0007 0.0015 0 0.0033 0.0003 0.0005 0.0014 . . 0.133 . -0.024 -0.024000 . . 1.000000 . . 1.0E-199 0.264 0.248 . 0.062 0.031 . 0.256 . 0.148 -0.024 0.051 . rs2482277 rs2482277 rs2482277 rs2482277 1 1538 10 1/0 0,246,255 +. 9 70918733 C A - FOXD4L3 18523 Forkhead box D4-like 3 NM_199135.4 1 2218 1254 NP_954586.4 Q3SYB3 substitution missense exon GRCh37 70918733 70918733 Chr9(GRCh37):g.70918733C>A 866 866 NM_199135.4:c.866C>A p.Ala289Asp p.Ala289Asp 1 611086 0.001392 0.007184 0.000612 0.000000 0.000112 0.000503 0.000136 0.000000 0.000000 0.007184 105 90 7 0 1 3 4 0 0 75440 12528 11446 1402 8954 5960 29360 3576 2214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105 90 7 0 1 3 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.189 0.609 A Ala GCC 0.403 D Asp GAC 0.539 289 8 1 -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 133.94 0.00 Tolerated 1 III.45 good 9.936E-1 0.0701 184 PASS . . . . . . . . . . . ENSG00000187559:ENST00000342833:exon1:c.C866A:p.A289D FOXD4L3:uc004agm.1:exon1:c.C866A:p.A289D FOXD4L3:NM_199135:exon1:c.C866A:p.A289D . . 0.12280702 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.068 . . 57.0 . . . . . . . . . . -1.5717 -1.533 -1.572 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.942 . . exonic exonic exonic . . 0.166 @ . . . 0.42 0.37 182 ENSG00000187559 FOXD4L3 FOXD4L3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.266 . . . . D 0.758 0.092 . . 37 . 0.751 . . 0.640 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.395 . 0.149 . LowAF 1 . . . . . . . . . . . . . IX.26 0.037415 ENST00000342833 III.42 0.598 . 1.000000 Q6VB84 . . . . . 0.036 . . . 0.0039 0.0007 0.0007 0 0.0001 0 0.0002 0 0.0005 0.0093 0.0028 0 0 0 0 8.469e-05 0 . . 0.133 . 0.035 0.035000 . . 1.000000 . . 9.999999999999999E-185 0.001 0.137 . 0.090 0.005 . 0.095 . 0.125 0.035 -0.224 . rs2482270 rs2482270 rs2482270 rs2482270 1 1538 10 1/0 0,252,255 +. 9 84544422 G A - SPATA31D4 38601 SPATA31 subfamily D, member 4 NM_001145197.1 1 4923 2754 NP_001138669.1 P0C874 substitution intron GRCh37 84544422 84544422 Chr9(GRCh37):g.84544422G>A 232+6 232+6 NM_001145197.1:c.232+6G>A p.? p.? 2 2 6 5' 82.2818 8.99306 0.490344 2.54355 81.9717 8.48854 0.465035 2.58455 -0.0371616 transition G A G>A 0.008 0.609 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||SPATA31D4|mRNA|CODING|NM_001145197|) . . . . . . . -0.2345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . . SPATA31D4 SPATA31D4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 84559494 G A - SPATA31D3 38603 SPATA31 subfamily D, member 3 NM_207416.2 1 4927 2754 NP_997299.2 P0C874 substitution intron GRCh37 84559494 84559494 Chr9(GRCh37):g.84559494G>A 232+6 232+6 NM_207416.2:c.232+6G>A p.? p.? 2 2 6 5' 82.2818 8.99306 0.490344 2.54355 81.9717 8.48854 0.465035 2.58455 -0.0371616 transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.58536583 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||SPATA31D3|mRNA|CODING|NM_207416|) . . . . . . . -0.3670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . . . . . AK097447 SPATA31D3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs146724128 9 86292683 C A - UBQLN1 12508 Ubiquilin 1 NM_013438.4 -1 4168 1770 NP_038466.2 Q9UMX0 substitution missense exon GRCh37 86292683 86292683 Chr9(GRCh37):g.86292683C>A 1064 1064 NM_013438.4:c.1064G>T p.Gly355Val p.Gly355Val 6 605046 -42 5' 80.9931 9.1223 0.827372 1.56335 80.9931 9.1223 0.827372 1.92355 0 Cryptic Acceptor Strongly Activated 86292678 2.93514 0.004429 73.6303 4.16066 0.192376 80.3264 rs146724128 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.000800 0.000000 0.000000 0.005000 0.007200 0.004981 0.001416 0.004997 0.005521 0.000000 0.000617 0.007844 0.002288 0.007276 0.007844 1380 34 172 56 0 19 993 59 47 277064 24016 34420 10144 18866 30782 126590 25786 6460 0.000058 0.000000 0.000058 0.000000 0.000000 0.000000 0.000079 0.000000 0.000619 8 0 1 0 0 0 5 0 2 1364 34 170 56 0 19 983 59 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4397 12928 69 9 78 0.00802326 0.00204267 0.00599723 0.00802326 0.00204267 0.00599723 61 transversion G T G>T 1.000 2.788 G Gly GGG 0.250 V Val GTG 0.468 355 12 10 Baker's yeast -3 -3 -6 0.74 0 9 5.IX 3 84 109 C15 87.31 69.84 Deleterious 0.01 III.38 good 6.583E-2 0.07147 255 PASS 0.002 0.0041 0.01 . 0.01 0.0008 0.0022 0.0072 . 0.005 . . . . . . 0.6785714 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.796 . @ . . . . . 1 0.861 . . 56.0 . . . 0.002 0.006 0.008 0.002 0.006 0.008 . 0.6689 0.690 0.669 c . . . . . 5.185e-03 . . . 0.0015 0.0047 0.0033 0 0.0026 0.0083 0.0071 0.0003 0.0014 0.0049 0.0030 0 0.0018 0.0084 0.0087 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.798 . . exonic exonic exonic . . 0.980 0.0022 . . . 0.34 0.3 182 ENSG00000135018 UBQLN1 UBQLN1 . . . 1.000 0.489 . 450 0.00692563 64976 439 0.00731837 59986 Uncertain_significance . 0 . 0.523 . . . . D 0.878 0.221 . . 37 . 0.858 . . 0.848 . . . 0.794 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.584 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.721 . . . . . 0.799 . 0.985 . HET 0.03 rs146724128 . . . . . . . 0.004120879120879121 0.0020325203252032522 0.011049723756906077 0.0 0.005277044854881266 15.993 0.002675 . 6.IV 6.IV . 0.310000 . . . Name\x3dnsv893512 0.005997 . 0.929 . . 6.IV 0.0011 0.0050 0.0050 0.0055 0 0.0022 0.0080 0.0071 0.0006 0.0020 0.0047 0.0048 0.0066 0 0.0029 0.0069 0.0082 . . 0.730 . 2.873 2.873000 . . 0.310000 . . 1.0E-255 1.000 0.715 . 0.361 0.068 . 0.632 . 0.490 2.873 0.871 0.01 . . rs146724128 rs146724128 1 1538 10 1/0 0,255,255 +rs140176368 9 90296694 G A - DAPK1 2674 Death-associated protein kinase 1 NM_001288729.1 1 5773 4293 NP_001275658.1 P53355 substitution intron GRCh37 90296694 90296694 Chr9(GRCh37):g.90296694G>A 2224+153 2224+153 NM_001288729.1:c.2224+153G>A p.? p.? 20 20 600831 153 5' 84.5905 9.78584 0.961217 VI.69 84.5905 9.78584 0.961217 VI.69 0 rs140176368 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008900 0.001400 0.004649 0.000272 0.001565 0.000760 0.000000 0.002377 0.005439 0.029678 0.008333 0.029678 612 4 33 4 0 34 295 210 32 131638 14720 21086 5264 11110 14302 54240 7076 3840 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000848 0.000521 4 0 0 0 0 0 0 3 1 604 4 33 4 0 34 295 204 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.117 255 PASS . 0.0032 . . 0.01 . 0.0022 0.0014 . 0.0089 0.001 . . . . . 0.6363636 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.0325 . . . . . . . . 1.639e-03 . . . 0 0.0043 0 0 0 0.0047 0.0192 0.0055 0 0.0048 0 0 0 0.0061 0 0.0055 . . . . . . intronic UTR3 intronic . . . 0.0022 . . . 0.21 0.1 182 ENSG00000196730 DAPK1 DAPK1 . uc004apf.1:c.*25G>A . . . . 365 0.00561746 64976 354 0.00590138 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140176368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0038 0.0015 0.0008 0 0.0329 0.0046 0.0056 0.0024 0.0002 0.0073 0.0036 0 0 0.0263 0.0075 0.0163 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs140176368 rs140176368 1 1538 10 1/0 0,255,255 +rs9410979 (chr9:90529584 C/T) 9 90529584 C T Not on a known gene +. 9 90533053 C T - SPATA31C1 27846 SPATA31 subfamily C, member 1 NM_001145124.1 1 3779 3567 NP_001138596.1 substitution missense exon GRCh37 90533053 90533053 Chr9(GRCh37):g.90533053C>T 148 148 NM_001145124.1:c.148C>T p.Arg50Cys p.Arg50Cys 1 -42 5' 94.6745 X.23 0.997863 5.64446 94.6745 X.23 0.997863 5.58854 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.008 0.125 R Arg CGT 0.082 C Cys TGT 0.448 50 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 252 PASS . . . . . . . . . . . . SPATA31C1:uc010mqi.3:exon1:c.C148T:p.R50C SPATA31C1:NM_001145124:exon1:c.C148T:p.R50C . . 0.3181818 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R50C|SPATA31C1|mRNA|CODING|NM_001145124|NM_001145124.ex.1) . . . . . . . -0.1261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.5 0.34 182 ENSG00000230246 SPATA31C1 SPATA31C1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . rs9410979 rs76280003 1 1538 10 1/0 0,255,255 +rs541228990 9 91991991 G C - SEMA4D 10732 Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D NM_006378.3 -1 4628 2589 NP_006369.3 Q92854 substitution downstream GRCh37 91991991 91991991 Chr9(GRCh37):g.91991991G>C *1628 *1628 NM_006378.3:c.*1628C>G p.? p.? 18 601866 2554 3' 89.7256 8.50039 0.863744 4.43547 89.7256 8.50039 0.863744 4.43547 0 transversion C G C>G 1.000 1.900 255 PASS . . . . . . . . . . . . . . . . 0.5263158 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . I.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . 0.0014 . . . . . . ENSG00000187764 SEMA4D SEMA4D ENST00000450295:c.*1628C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv29434 . . . . . IV.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs751136329 9 94867423 C T - SPTLC1 11277 Serine palmitoyltransferase, long chain base subunit 1 NM_001281303.1 -1 2825 1542 NP_001268232.1 substitution intron GRCh37 94867423 94867423 Chr9(GRCh37):g.94867423C>T 260+3599 260+3599 NM_001281303.1:c.260+3599G>A p.? p.? 3 3 605712 3599 5' 78.581 5.82854 0.792011 0 78.581 5.82854 0.792011 0 0 rs751136329 no no 0 C 0.000000 0 transition G A G>A 0.016 0.448 191 PASS . . . . . . . . . . . . . . . . 0.13793103 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.3221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000090054 SPTLC1 SPTLC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs751136329 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +rs200123001 9 94867445 G T - SPTLC1 11277 Serine palmitoyltransferase, long chain base subunit 1 NM_001281303.1 -1 2825 1542 NP_001268232.1 substitution intron GRCh37 94867445 94867445 Chr9(GRCh37):g.94867445G>T 260+3577 260+3577 NM_001281303.1:c.260+3577C>A p.? p.? 3 3 605712 3577 5' 78.581 5.82854 0.792011 0 78.581 5.82854 0.792011 0 0 rs200123001 yes no Frequency 1 G 0.000000 0 0.000099 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 0.000292 0.000000 0.000292 3 0 0 0 0 0 2 1 0 30276 8476 826 294 1616 0 14678 3420 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transversion C A C>A 0.000 -2.377 186 PASS . . . . . . . . . . . . . . . . 0.12643678 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.9417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.09 182 ENSG00000090054 SPTLC1 SPTLC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200123001 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831653 . . . . . . . . . . . . . . . 0 9.909e-05 0 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs200123001 rs200123001 1 1538 10 1/0 0,234,255 +rs201922457 9 96305496 T C - FAM120A 13247 Family with sequence similarity 120A NM_014612.4 1 5152 3357 NP_055427.2 Q9NZB2 substitution intron GRCh37 96305496 96305496 Chr9(GRCh37):g.96305496T>C 1910-8 1910-8 NM_014612.4:c.1910-8T>C p.? p.? 11 10 612265 -8 3' 86.9704 8.75986 0.981719 7.44383 85.4758 9.28485 0.978939 7.80643 0.0133048 rs201922457 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000546 0.000167 0.000467 0.000000 0.000053 0.000228 0.000870 0.000389 0.000465 0.000870 151 4 16 0 1 7 110 10 3 276518 23986 34290 10120 18848 30710 126412 25700 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 4 16 0 1 7 110 10 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 72 transition T C T>C 0.016 0.609 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5897436 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . 0.6255 . . . . . . . . 4.973e-04 . . . 0.0002 0.0005 0.0003 0 0.0008 0.0008 0 0.0003 0.0001 0.0004 0.0003 0 0.0006 0.0006 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.63 0.33 182 ENSG00000048828 FAM120A FAM120A . . . . . . 52 0.000800296 64976 51 0.000850198 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201922457 . . . . . . . . . . . . . . . . . . . . 0.0002 0.002 . 0.000384 . . . . III.84 0.0001 0.0005 0.0005 0 5.805e-05 0.0004 0.0008 0.0004 0.0002 0.0002 0.0008 0 0 0 0.0003 0.0013 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs201922457 rs201922457 1 1538 10 1/0 0,255,255 +. 9 102713470 C G - STX17 11432 Syntaxin 17 NM_017919.2 1 6908 909 NP_060389.2 P56962 substitution synonymous exon GRCh37 102713470 102713470 Chr9(GRCh37):g.102713470C>G 318 318 NM_017919.2:c.318C>G p.Leu106= p.Leu106Leu 4 604204 -98 5' 71.0227 IV.44 0.042297 0 71.0227 IV.44 0.042297 0 0 transversion C G C>G 0.984 -0.117 L Leu CTC 0.197 L Leu CTG 0.404 106 255 PASS . . . . . . . . . . . . . STX17:NM_017919:exon4:c.C318G:p.L106L . . 0.52112675 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctG|L106|STX17|mRNA|CODING|NM_017919|NM_017919.ex.4) . . . . . . . 1.0765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000136874 STX17 STX17 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs138931600 9 112141794 G A - PTPN3 9655 Protein tyrosine phosphatase, non-receptor type 3 NM_002829.3 -1 6716 2742 NP_002820.3 P26045 substitution 3'UTR GRCh37 112141794 112141794 Chr9(GRCh37):g.112141794G>A *42 *42 NM_002829.3:c.*42C>T p.? p.? 26 176877 120 3' 95.6592 9.61006 0.993192 8.64872 95.6592 9.61006 0.993192 8.64872 0 rs138931600 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000000 0.002000 0.000000 0.008900 0.010100 0.006606 0.001541 0.003227 0.015295 0.000000 0.002928 0.009965 0.004959 0.007273 0.015295 1828 37 111 155 0 90 1261 127 47 276724 24004 34396 10134 18842 30736 126542 25608 6462 0.000087 0.000000 0.000000 0.000197 0.000000 0.000000 0.000126 0.000234 0.000000 12 0 0 1 0 0 8 3 0 1804 37 111 153 0 90 1245 121 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4395 12900 95 11 106 0.0110465 0.0024966 0.00815008 0.0110465 0.0024966 0.00815008 61 transition C T C>T 0.000 0.125 255 PASS . 0.01 0.01 . 0.01 . 0.0036 0.01 . 0.0089 0.002 . . . . . 0.48076922 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 52.0 . . . 0.0025 0.0081 0.011 0.0025 0.0082 0.011 . 0.2764 . . . . . . . . 6.717e-03 . . . 0.0015 0.0063 0.0026 0 0.0037 0.0109 0.0154 0.0027 0.0014 0.0063 0.0026 0 0.0032 0.0102 0.0173 0.0028 . . . . . . UTR3 UTR3 UTR3 . . . 0.0036 . . . 0.69 0.53 182 ENSG00000070159 PTPN3 PTPN3 . . . . . . 517 0.00795678 64976 500 0.00833528 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138931600 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831685 0.008150 . . . . . 0.0013 0.0066 0.0032 0.0153 0 0.0046 0.0100 0.0075 0.0029 0.0020 0.0067 0.0048 0.0166 0 0.0074 0.0099 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138931600 rs138931600 1 1538 10 1/0 0,255,255 +rs146486489 9 112144686 T C - PTPN3 9655 Protein tyrosine phosphatase, non-receptor type 3 NM_002829.3 -1 6716 2742 NP_002820.3 P26045 substitution synonymous exon GRCh37 112144686 112144686 Chr9(GRCh37):g.112144686T>C 2424 2424 NM_002829.3:c.2424A>G p.Ala808= p.Ala808Ala 24 176877 42 3' 80.9277 VII.92 0.815582 9.18259 80.9277 VII.92 0.815582 9.26167 0 Protein-tyrosine phosphatase, receptor/non-receptor type Dual specificity phosphatase, catalytic domain Protein-tyrosine phosphatase, catalytic Protein-tyrosine phosphatase, non-receptor type-3, -4 rs146486489 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.002000 0.000000 0.008900 0.010100 0.006656 0.001540 0.003341 0.015268 0.000000 0.002924 0.010041 0.005002 0.007267 0.015268 1845 37 115 155 0 90 1272 129 47 277186 24032 34420 10152 18866 30780 126680 25788 6468 0.000079 0.000000 0.000000 0.000197 0.000000 0.000000 0.000111 0.000233 0.000000 11 0 0 1 0 0 7 3 0 1823 37 115 153 0 90 1258 123 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8504 4395 12899 96 11 107 0.0111628 0.0024966 0.00822697 0.0111628 0.0024966 0.00822697 185 transition A G A>G 0.016 -2.619 A Ala GCA 0.226 A Ala GCG 0.107 808 255 PASS . 0.01 0.01 . 0.01 . 0.0036 0.01 . 0.0089 0.002 . . . . . 0.45112783 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 133.0 . . . 0.0025 0.0082 0.011 0.0025 0.0082 0.011 . 0.1135 . . . . . . . . 6.748e-03 . . . 0.0015 0.0064 0.0026 0 0.0037 0.0109 0.0169 0.0027 0.0014 0.0063 0.0026 0 0.0032 0.0101 0.0173 0.0027 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.49 0.3 182 ENSG00000070159 PTPN3 PTPN3 . . . . . . 512 0.00787983 64976 495 0.00825192 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146486489 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831685 0.008227 . . . . . 0.0013 0.0066 0.0033 0.0152 0 0.0046 0.0100 0.0075 0.0029 0.0019 0.0068 0.0048 0.0166 0 0.0074 0.0101 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs146486489 rs146486489 1 1538 10 1/0 0,247,255 +rs763753688 9 112151519 T C - PTPN3 9655 Protein tyrosine phosphatase, non-receptor type 3 NM_002829.3 -1 6716 2742 NP_002820.3 P26045 substitution synonymous exon GRCh37 112151519 112151519 Chr9(GRCh37):g.112151519T>C 2247 2247 NM_002829.3:c.2247A>G p.Arg749= p.Arg749Arg 22 176877 -7 5' 91.0392 X.88 0.994824 6.14427 91.0392 X.88 0.994505 5.59417 -0.000106887 Protein-tyrosine phosphatase, receptor/non-receptor type Protein-tyrosine phosphatase, non-receptor type-3, -4 rs763753688 yes no Frequency 1 T 0.000000 0 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000063 7 0 0 0 0 0 7 0 0 246120 15302 33560 9844 17234 30754 111650 22292 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes transition A G A>G 1.000 0.609 R Arg CGA 0.110 R Arg CGG 0.207 749 255 PASS . . . . . . . . . . . . . . . . 0.53125 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . I.11 . . . . . . . . 1.579e-05 . . . 0 1.109e-05 0 0 0 2.384e-05 0 0 0 1.892e-05 0 0 0 3.691e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000070159 PTPN3 PTPN3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs763753688 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831685 . . . . . . 0 2.844e-05 0 0 0 0 6.27e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs536043648 9 112852824 G A - AKAP2 372 A kinase (PRKA) anchor protein 2 NM_001198656.1 1 7003 2886 NP_001185585.1 substitution intron GRCh37 112852824 112852824 Chr9(GRCh37):g.112852824G>A 156+41689 156+41689 NM_001198656.1:c.156+41689G>A p.? p.? 1 1 604582 41689 5' 82.5023 7.07454 0.860641 XII.72 82.5023 7.07454 0.860641 XII.72 0 New Acceptor Site 112852826 1.48502 0.000106 66.7306 rs536043648 yes no Frequency 1 G 0.000000 0 0.000355 0.000000 0.000000 0.009934 0.000000 0.000000 0.000533 0.000000 0.000000 0.009934 11 0 0 3 0 0 8 0 0 30966 8720 838 302 1620 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 3 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.4054054 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536043648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0.0099 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs536043648 9 112852824 G A - PALM2-AKAP2 33529 PALM2-AKAP2 readthrough NM_007203.4 1 7519 3312 NP_009134.1 substitution intron GRCh37 112852824 112852824 Chr9(GRCh37):g.112852824G>A 583-45583 583-45583 NM_007203.4:c.583-45583G>A p.? p.? 8 7 -45583 3' 88.5709 7.79875 0.930911 6.04007 88.5709 7.79875 0.930911 6.04007 0 New Acceptor Site 112852826 1.48502 0.000106 66.7306 rs536043648 yes no Frequency 1 G 0.000000 0 0.000355 0.000000 0.000000 0.009934 0.000000 0.000000 0.000533 0.000000 0.000000 0.009934 11 0 0 3 0 0 8 0 0 30966 8720 838 302 1620 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 3 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.4054054 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536043648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0.0099 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs142041184 9 115805169 C T - ZFP37 12863 ZFP37 zinc finger protein NM_001282515.1 -1 2951 1938 NP_001269444.1 substitution missense exon GRCh37 115805169 115805169 Chr9(GRCh37):g.115805169C>T 1774 1774 NM_001282515.1:c.1774G>A p.Glu592Lys p.Glu592Lys 4 602951 1380 3' 73.6718 6.50929 0.455571 1.95215 73.6718 6.50929 0.455571 1.95215 0 rs142041184 yes no Frequency 1 C 0.000000 0 0.000813 0.000125 0.000960 0.015871 0.000053 0.000000 0.000158 0.000000 0.001087 0.015871 225 3 33 161 1 0 20 0 7 276608 24014 34386 10144 18862 30754 126254 25754 6440 0.000007 0.000000 0.000000 0.000197 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 223 3 33 159 1 0 20 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4405 13000 5 1 6 0.000581395 0.000226963 0.000461326 0.000581395 0.000226963 0.000461326 154 COSM1104165 Endometrium 0.001524 656 transition G A G>A 0.866 1.416 E Glu GAA 0.417 K Lys AAA 0.425 592 12 10 Frog 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 138.34 8.XI Tolerated 0.14 III.32 197 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.701 . @ . . . . . 1 0.638 . . 52.0 . . . 0.0002 0.0005 0.0006 0.0002 0.0005 0.0006 . 0.0088 -0.037 0.009 c . . . . . . . . . 0.0003 0.0010 0.0008 0 0 0.0017 0.0042 0 0.0003 0.0008 0.0007 0 0 0.0012 0.0043 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.372 @ . . . 0.65 0.4 182 ENSG00000136866 ZFP37 ZFP37 . . . 0.003 0.102 . 16 0.000246245 64976 16 0.000266729 59986 Uncertain_significance . 0 . 0.452 . . . . T 0.095 0.004 . . 37 . 0.125 . . 0.037 . . . 0.136 0.275 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.764 . . 0.580 . . . . . . 0 0.225 . . . . . 0.513 . 0.547 . HET 0.11 rs142041184 . . . . . . ID\x3dCOSM1104165\x3bOCCURENCE\x3d1(endometrium) . . . . . XI.81 2.68E-4 . IV.25 III.34 . 0.130000 . . . . 0.000461 . 0.002 . . III.34 0.0002 0.0009 0.0010 0.0161 0 0 0.0002 0.0013 0 0 0.0001 0 0.0099 0.0006 0 0 0 . . 0.428 . 1.361 1.361000 . . 0.130000 . . 1.0E-197 0.000 0.063 . 0.750 0.996 . 0.102 . 0.362 1.361 0.871 0.0006 . . rs142041184 rs142041184 1 1538 10 1/0 0,255,255 +. 9 115805177 T G - ZFP37 12863 ZFP37 zinc finger protein NM_001282515.1 -1 2951 1938 NP_001269444.1 substitution missense exon GRCh37 115805177 115805177 Chr9(GRCh37):g.115805177T>G 1766 1766 NM_001282515.1:c.1766A>C p.Glu589Ala p.Glu589Ala 4 602951 1372 3' 73.6718 6.50929 0.455571 1.95215 73.6718 6.50929 0.455571 1.95215 0 Cryptic Donor Weakly Activated 115805175 5.12744 0.014698 69.3636 5.28372 0.023699 69.6702 transversion A C A>C 0.276 0.609 E Glu GAA 0.417 A Ala GCA 0.226 589 12 9 Dolphin -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 181.32 0.00 Tolerated 0.69 III.32 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.517 . @ . . . . . 1 0.506 . . 50.0 . . . . . . . . . . -0.3341 -0.245 -0.334 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.074 . . exonic exonic exonic . . 0.495 @ . . . . . . ENSG00000136866 ZFP37 ZFP37 . . . 0.002 0.094 . . . . . . . Uncertain_significance . 0 . 0.232 . . . . T 0.128 0.005 . . 37 . 0.059 . . 0.371 . . . 0.028 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.692 . . 0 0 0 0 0 0 . 0.371 . . 0.410 . . . . . . 0 0.241 . . . . . 0.299 . 0.318 . HET 0.14 . . . . . . . . . . . . . 8.1056 . . IV.25 IV.25 . 0.280000 . . . . . . 0.002 . . IV.25 . . . . . . . . . . . . . . . . . . . 0.428 . 2.142 2.142000 . . 0.280000 . . 1.0E-200 0.000 0.063 . 0.888 0.998 . 0.239 . 0.580 2.142 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs748596534 9 115805182 A T - ZFP37 12863 ZFP37 zinc finger protein NM_001282515.1 -1 2951 1938 NP_001269444.1 substitution synonymous exon GRCh37 115805182 115805182 Chr9(GRCh37):g.115805182A>T 1761 1761 NM_001282515.1:c.1761T>A p.Pro587= p.Pro587Pro 4 602951 1367 3' 73.6718 6.50929 0.455571 1.95215 73.6718 6.50929 0.455571 1.95215 0 rs748596534 yes no Frequency 1 A 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 0.000130 4 0 0 0 0 4 0 0 0 245610 15294 33538 9838 17246 30734 111250 22248 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes transversion T A T>A 0.268 -0.682 P Pro CCT 0.283 P Pro CCA 0.274 587 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.7759 . . . . . . . . 1.579e-05 . . . 0 2.208e-05 0 0 0 0 0 0.0001 0 1.886e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000136866 ZFP37 ZFP37 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748596534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.629e-05 0 0 0 0 0 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749361137 9 115805188 C T - ZFP37 12863 ZFP37 zinc finger protein NM_001282515.1 -1 2951 1938 NP_001269444.1 substitution synonymous exon GRCh37 115805188 115805188 Chr9(GRCh37):g.115805188C>T 1755 1755 NM_001282515.1:c.1755G>A p.Glu585= p.Glu585Glu 4 602951 1361 3' 73.6718 6.50929 0.455571 1.95215 73.6718 6.50929 0.455571 1.95215 0 rs749361137 yes no Frequency 1 C 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 0.000130 4 0 0 0 0 4 0 0 0 245550 15292 33534 9824 17248 30734 111224 22240 5454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 PASS 59 Exomes transition G A G>A 1.000 1.900 E Glu GAG 0.583 E Glu GAA 0.417 585 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . I.99 . . . . . . . . 1.579e-05 . . . 0 2.207e-05 0 0 0 0 0 0.0001 0 1.886e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000136866 ZFP37 ZFP37 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749361137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.53 0 1.629e-05 0 0 0 0 0 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 115872344 A C - FAM225B 21865 Family with sequence similarity 225, member B (non-protein coding) NR_024376.1 -1 5806 0 substitution exon GRCh37 115872344 115872344 Chr9(GRCh37):g.115872344A>C 465 465 NR_024376.1:n.465T>G 3 90 3' 90.2849 9.81126 0.926436 X.25 90.2849 9.81126 0.926436 X.25 0 transversion T G T>G 0.024 0.205 255 PASS . . . . . . . . . . . . . . . . 0.47826087 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.0202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000225684 FAM225B FAM225B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 115872356 T TCG - FAM225B 21865 Family with sequence similarity 225, member B (non-protein coding) NR_024376.1 -1 5806 0 insertion exon GRCh37 115872356 115872357 Chr9(GRCh37):g.115872356_115872357insCG 452 453 NR_024376.1:n.452_453insCG 3 77 3' 90.2849 9.81126 0.926436 X.25 90.2849 9.81126 0.926436 X.31 0 rs201905251 yes no Frequency/1000G 2 0.000000 0 CG 255 Pass 0.09 0.11 0.09 0.12 0.14 . . . . . . . . . . . 0.46666667 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 60 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . . . . . . . . ENSG00000225684 FAM225B FAM225B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201905251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs201905251 rs201905251 1 1538 10 1.I 0,12,33 +. 9 115876775 G GGC - FAM225A 27855 Family with sequence similarity 225, member A (non-protein coding) XR_242589.1 1 5985 0 insertion exon GRCh37 115876776 115876777 Chr9(GRCh37):g.115876776_115876777insCG 635 636 XR_242589.1:n.635_636insCG 2 77 3' 90.2849 9.81126 0.926436 X.25 90.2849 9.81126 0.926436 X.31 0 rs201606800 yes no Frequency/1000G 2 0.000000 0 CG 255 Pass 0.08 0.13 0.11 0.17 0.16 . . . . . . . . . . . 0.40384614 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 52 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . . . . . . . . ENSG00000231528 FAM225A FAM225A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201606800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.17 . . rs201606800 rs201606800 1 1538 10 1.I 0,12,39 +. 9 115876789 T G - FAM225A 27855 Family with sequence similarity 225, member A (non-protein coding) XR_242589.1 1 5985 0 substitution exon GRCh37 115876789 115876789 Chr9(GRCh37):g.115876789T>G 648 648 XR_242589.1:n.648T>G 2 90 3' 90.2849 9.81126 0.926436 X.25 90.2849 9.81126 0.926436 X.25 0 transversion T G T>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.4347826 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.2928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000231528 FAM225A FAM225A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs80016484 9 117086295 T C - ORM1 8498 Orosomucoid 1 NM_000607.2 1 839 606 NP_000598.2 P02763 substitution splice site GRCh37 117086295 117086295 Chr9(GRCh37):g.117086295T>C 258-3 258-3 NM_000607.2:c.258-3T>C p.? p.? 3 2 138600 -3 3' 79.0403 8.52772 0.937513 5.25314 85.217 8.43579 0.908624 5.63178 0.012184 rs80016484 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000076 0.000042 0.000000 0.000000 0.000000 0.000000 0.000158 0.000000 0.000000 0.000158 21 1 0 0 0 0 20 0 0 277212 24022 34420 10152 18862 30782 126714 25792 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 0 0 0 0 20 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -1.651 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.4609929 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 141.0 . . INTRON(MODIFIER||||ORM1|mRNA|CODING|NM_000607|) . . . . . . . 1.0324 . . . . . . . . 1.184e-04 . . . 0 0.0001 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.21 0.31 182 ENSG00000229314 ORM1 ORM1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80016484 . . . . . . . . . . . . . . . . . . . . 0 0.052 . . . . . . . 6.534e-05 8.121e-05 0 0 0 0 0.0002 0 0 0 3.231e-05 0 0 0 0 6.665e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80016484 rs80016484 1 1538 10 1/0 0,245,255 +rs72616627 9 122004546 A G - BRINP1 2687 Bone morphogenetic protein/retinoic acid inducible neural-specific 1 NM_014618.2 -1 3196 2286 NP_055433.2 O60477 substitution intron GRCh37 122004546 122004546 Chr9(GRCh37):g.122004546A>G 410-52 410-52 NM_014618.2:c.410-52T>C p.? p.? 4 3 602865 -52 3' 92.6706 9.82566 0.962746 XI.07 92.6706 9.82566 0.962746 XI.94 0 rs72616627 yes no Frequency 1 A 0.000000 0 0.000010 0.000000 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000207 0.000034 2 0 1 0 0 0 0 0 1 209668 13244 29600 8344 15482 26002 92364 19810 4822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 40 Exomes transition T C T>C 0.000 -0.682 111 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||BRINP1|mRNA|CODING|NM_014618|) . . . . . . . 0.1541 . . . . . . . . 7.546e-04 . . . 0 0.0001 0 0 0 0.0002 0 0.0004 0 0.0001 0 0 0 0.0002 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.31 182 ENSG00000078725 DBC1 BRINP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs72616627 . 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7434 . . . . . . 0 9.539e-06 3.378e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . rs72616627 rs72616627 rs72616627 1 1538 10 1.I 60,1,0 +rs138402441 9 125424451 C T - OR1L1 8213 Olfactory receptor, family 1, subfamily L, member 1 NM_001005236.3 1 933 933 NP_001005236.3 substitution missense exon GRCh37 125424451 125424451 Chr9(GRCh37):g.125424451C>T 457 457 NM_001005236.3:c.457C>T p.His153Tyr p.His153Tyr 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs138402441 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.001133 0.000416 0.000552 0.000197 0.000000 0.000097 0.002108 0.000039 0.001856 0.002108 314 10 19 2 0 3 267 1 12 277118 24038 34420 10152 18866 30782 126678 25716 6466 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 312 10 19 2 0 1 267 1 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8589 4405 12994 11 1 12 0.00127907 0.000226963 0.000922651 0.00127907 0.000226963 0.000922651 339 transition C T C>T 0.000 -0.117 H His CAT 0.413 Y Tyr TAT 0.438 153 4 3 Cow 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C35 24.VIII 83.33 Tolerated 0.13 III.73 bad 8.463E-3 0.0005559 255 PASS . 0.0009 0.01 . . . 0.0004 0.0029 . . . . OR1L1:uc022bmz.1:exon1:c.C457T:p.H153Y OR1L1:NM_001005236:exon1:c.C457T:p.H153Y . . 0.45925927 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.109 . . 135.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H153Y|OR1L1|mRNA|CODING|NM_001005236|NM_001005236.ex.1) 0.0002 0.0009 0.0013 0.0002 0.0009 0.0013 . -1.3232 -1.382 -1.323 c . . . . . 1.460e-03 . . . 0.0004 0.0011 0.0009 0 0 0.0020 0 0.0002 0.0004 0.0014 0.0009 0 0 0.0025 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.001 . . exonic exonic exonic . . 0.067 0.0004 . . . 0.21 0.22 182 ENSG00000173679 OR1L1 OR1L1 . . . 0.860 0.252 . 77 0.00118505 64976 75 0.00125029 59986 Uncertain_significance . 0 . . . . . . T 0.021 0.001 . . 37 . 0.001 . . 0.320 . . . 0.357 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.587 . . 0 0 0 0 0 0 . 0.090 . . 0.179 . . . . . . 0 0.108 . . . . . 0.383 . 0.243 . HET 0.46 rs138402441 . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 IX.13 2.68E-4 . III.26 -2.12 . 1.000000 Q8NH94 . . . 0.000923 . 0.057 . . . 0.0003 0.0012 0.0006 0.0002 0 4.5e-05 0.0023 0.0016 9.746e-05 0.0006 0.0007 0 0 0 0 0.0010 0.0031 . . 0.133 . -0.452 -0.452000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.036 . 0.110 -0.452 -0.058 0.01 . . rs138402441 rs138402441 1 1538 10 1/0 0,244,255 +. 9 127990127 C T - RABEPK 16896 Rab9 effector protein with kelch motifs NM_005833.3 1 1628 1119 NP_005824.2 Q7Z6M1 substitution intron GRCh37 127990127 127990127 Chr9(GRCh37):g.127990127C>T 527-62 527-62 NM_005833.3:c.527-62C>T p.? p.? 6 5 605962 -62 3' 85.9601 7.19953 0.875425 6.14501 85.9601 7.19953 0.875425 6.19291 0 transition C T C>T 0.000 -1.570 238 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.2355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000136933 RABEPK RABEPK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 129097606 C T - MVB12B 23368 Multivesicular body subunit 12B NM_033446.2 1 4824 960 NP_258257.1 Q9H7P6 substitution intron GRCh37 129097606 129097606 Chr9(GRCh37):g.129097606C>T 82-5181 82-5181 NM_033446.2:c.82-5181C>T p.? p.? 2 1 -5181 3' 81.3105 8.38891 0.844163 8.36378 81.3105 8.38891 0.844163 8.36378 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 141516 6494 23846 8084 10122 22590 51200 15446 3734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 90 Exomes transition C T C>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 0.5389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . . . . ENSG00000196814 MVB12B MVB12B . uc011lzy.2:c.-45C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.066e-06 0 0 0 0 1.953e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs145434007 9 129184108 T C - MVB12B 23368 Multivesicular body subunit 12B NM_033446.2 1 4824 960 NP_258257.1 Q9H7P6 substitution intron GRCh37 129184108 129184108 Chr9(GRCh37):g.129184108T>C 663-25 663-25 NM_033446.2:c.663-25T>C p.? p.? 7 6 -25 3' 89.9544 10.1552 0.981503 13.81 89.9544 10.1552 0.981503 13.5977 0 rs145434007 yes no Frequency/1000G 2 T 0.000000 0 0.002995 0.000000 0.001000 0.000000 0.008000 0.008600 0.005962 0.001331 0.003313 0.000591 0.000000 0.001462 0.008659 0.012372 0.006188 0.012372 1652 32 114 6 0 45 1096 319 40 277068 24034 34414 10150 18870 30774 126578 25784 6464 0.000094 0.000000 0.000000 0.000000 0.000000 0.000130 0.000142 0.000155 0.000000 13 0 0 0 0 2 9 2 0 1626 32 114 6 0 41 1078 315 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8512 4394 12906 88 12 100 0.0102326 0.00272356 0.00768876 0.0102326 0.00272356 0.00768876 131 transition T C T>C 0.465 0.125 255 PASS . 0.01 0.01 . 0.01 . 0.003 0.0086 . 0.008 0.001 . . . . . 0.4817073 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 164.0 . . INTRON(MODIFIER||||MVB12B|mRNA|CODING|NM_033446|) 0.0027 0.0077 0.01 0.0027 0.0077 0.01 . 0.6482 . . . . . . . . 5.777e-03 . . . 0.0015 0.0051 0.0031 0 0.0132 0.0079 0.0084 0.0013 0.0015 0.0052 0.0031 0 0.0122 0.0073 0.0072 0.0013 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.4 0.26 182 ENSG00000196814 MVB12B MVB12B . . . . . . 459 0.00706415 64976 444 0.00740173 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145434007 . . . . . . . . . . . . . . . . . . . . . . . 0.007689 . . . . . 0.0014 0.0058 0.0033 0.0006 0 0.0124 0.0085 0.0049 0.0015 0.0013 0.0070 0.0036 0 0 0.0123 0.0098 0.0132 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145434007 rs145434007 1 1538 10 1/0 0,236,253 +. 9 130533517 C T - SH2D3C 16884 SH2 domain containing 3C NM_170600.2 -1 3154 2583 NP_733745.1 Q8N5H7 substitution intron GRCh37 130533517 130533517 Chr9(GRCh37):g.130533517C>T 515+2752 515+2752 NM_170600.2:c.515+2752G>A p.? p.? 2 2 604722 2752 5' 89.6127 X.54 0.983224 X.77 89.6127 X.54 0.983224 X.77 0 rs1056883512 yes no Frequency 1 C 0.000000 0 0.000035 0.000000 0.000085 0.000000 0.000000 0.000000 0.000044 0.000055 0.000000 0.000085 6 0 2 0 0 0 3 1 0 170818 15446 23430 8154 10858 22210 67772 18318 4630 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 2 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.4716981 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . I.96 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000095370 SH2D3C SH2D3C ENST00000373277:c.-9G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.574e-05 8.853e-05 0 0 6.743e-05 3.788e-05 0 0 0 3.236e-05 0 0 0 0 6.679e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs527820256 9 130996365 C T - DNM1 2972 Dynamin 1 NM_001288739.1 1 3245 2595 NP_001275668.1 Q05193 substitution synonymous exon GRCh37 130996365 130996365 Chr9(GRCh37):g.130996365C>T 1401 1401 NM_001288739.1:c.1401C>T p.Arg467= p.Arg467Arg 11 602377 -22 5' 89.8591 9.60237 0.98169 22.8916 89.8591 9.60237 0.98169 22.1568 0 Cryptic Donor Strongly Activated 130996363 55.9081 3.16681 0.063286 68.0404 rs527820256 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000041 0.000000 0.000000 0.000000 0.000497 0.000042 0.000000 0.000000 0.000000 0.000497 7 0 0 0 6 1 0 0 0 171194 9232 26546 8238 12082 23684 71352 15876 4184 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 43 Exomes COSM5796164 Breast 0.000408 2453 transition C T C>T 0.063 -1.732 R Arg CGC 0.190 R Arg CGT 0.082 467 255 PASS . . . . . . 0.0002 . . . 0.001 . . UNKNOWN . . 0.5762712 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.4488 . . . . . . . . 4.071e-05 . . . 0 0.0002 0 0.0024 0 0 0 0.0002 0 0.0002 0 0.0018 0 0 0 0.0002 synonymous_SNV synonymous_SNV unknown . . . exonic exonic exonic . . . 0.0002 . . . . . . ENSG00000106976 DNM1 DNM1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs527820256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.089e-05 0 0 0.0005 0 0 0 4.222e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749058250 9 131029890 C G - GOLGA2 4425 Golgin A2 NM_004486.4 -1 4260 3009 NP_004477.3 Q08379 substitution intron GRCh37 131029890 131029890 Chr9(GRCh37):g.131029890C>G 421-94 421-94 NM_004486.4:c.421-94G>C p.? p.? 6 5 602580 -94 3' 78.357 9.17024 0.96842 7.28355 78.357 9.17024 0.96842 7.28355 0 rs749058250 no no 0 C 0.000000 0 transversion G C G>C 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.4950495 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . INTRON(MODIFIER||||GOLGA2|mRNA|CODING|NM_004486|) . . . . . . . 0.1838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167110 GOLGA2 GOLGA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749058250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 131775223 C T - SH3GLB2 10834 SH3-domain GRB2-like endophilin B2 NM_001287045.1 -1 2306 1215 NP_001273974.1 substitution intron GRCh37 131775223 131775223 Chr9(GRCh37):g.131775223C>T 573+64 573+64 NM_001287045.1:c.573+64G>A p.? p.? 6 6 609288 64 5' 79.968 7.76791 0.906369 1.88237 79.968 7.76791 0.906369 2.00597 0 New Acceptor Site 131775221 6.40258 0.025765 68.3774 rs984837345 yes no Frequency 1 C 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000617 0.000000 0.000067 0.000000 0.000000 0.000617 2 0 0 0 1 0 1 0 0 30968 8728 838 302 1622 0 15004 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.4512195 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.0062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148341 SH3GLB2 SH3GLB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.458e-05 0 0 0.0006 0 6.665e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 131776267 T G - SH3GLB2 10834 SH3-domain GRB2-like endophilin B2 NM_001287045.1 -1 2306 1215 NP_001273974.1 substitution intron GRCh37 131776267 131776267 Chr9(GRCh37):g.131776267T>G 561+423 561+423 NM_001287045.1:c.561+423A>C p.? p.? 5 5 609288 423 5' 80.6985 10.154 0.970471 14.8142 80.6985 10.154 0.970471 14.8142 0 transversion A C A>C 0.000 -0.682 201 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . 0.2419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148341 SH3GLB2 SH3GLB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 9 131776268 T G - SH3GLB2 10834 SH3-domain GRB2-like endophilin B2 NM_001287045.1 -1 2306 1215 NP_001273974.1 substitution intron GRCh37 131776268 131776268 Chr9(GRCh37):g.131776268T>G 561+422 561+422 NM_001287045.1:c.561+422A>C p.? p.? 5 5 609288 422 5' 80.6985 10.154 0.970471 14.8142 80.6985 10.154 0.970471 14.8142 0 transversion A C A>C 0.000 -0.279 191 PASS . . . . . . . . . . . . . . . . 0.13793103 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . 0.3271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148341 SH3GLB2 SH3GLB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 9 131776269 T G - SH3GLB2 10834 SH3-domain GRB2-like endophilin B2 NM_001287045.1 -1 2306 1215 NP_001273974.1 substitution intron GRCh37 131776269 131776269 Chr9(GRCh37):g.131776269T>G 561+421 561+421 NM_001287045.1:c.561+421A>C p.? p.? 5 5 609288 421 5' 80.6985 10.154 0.970471 14.8142 80.6985 10.154 0.970471 14.8142 0 transversion A C A>C 0.000 0.286 189 PASS . . . . . . . . . . . . . . . . 0.13402061 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . 0.5289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148341 SH3GLB2 SH3GLB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs757954196 9 131825934 G C - MIGA2 23621 Mitoguardin 2 NM_001329990.1 1 3725 1782 NP_001316919.1 Q7L4E1 substitution intron GRCh37 131825934 131825934 Chr9(GRCh37):g.131825934G>C 1170+24 1170+24 NM_001329990.1:c.1170+24G>C p.? p.? 11 11 616774 24 5' 71.5878 6.28293 0.822572 6.31218 71.5878 6.28293 0.822572 6.25645 0 transversion G C G>C 0.000 -0.440 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||FAM73B|mRNA|CODING|NM_032809|) . . . . . . . -0.3929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148343 FAM73B FAM73B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 9 132632117 T G - MIR6855 50061 MicroRNA 6855 NR_106914.1 1 67 0 substitution downstream GRCh37 132632117 132632117 Chr9(GRCh37):g.132632117T>G *167 *167 NR_106914.1:n.*167T>G p.? p.? 1 transversion T G T>G 1.000 4.322 221 PASS . . . . . . . . . . . . . . . . 0.21621622 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.642 . @ . . . . . 1 0.588 . . 74.0 . . . . . . . . . . 0.3134 0.393 0.313 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.192 . . exonic exonic exonic . . 0.620 @ . . . . . . ENSG00000136878 USP20 USP20 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.469 0.024 . . 37 . 0.248 . . 0.048 . . . 0.426 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.519 . . 0 0 0 0 0 0 . 0.362 . . 0.435 . . . . . . 1 0.654 . . . . . 0.641 . 0.816 . HET 0 . . . . . . . . . . . . . 14.0445 . . IV.84 IV.84 . 0.010000 Q9Y2K6 . . . . . 0.606 . . IV.84 . . . . . . . . . . . . . . . . . . . 0.495 . 2.165 2.165000 . . 0.010000 . . 1.0E-221 1.000 0.715 . 0.308 0.898 . 0.821 . 0.807 2.165 0.970 . . . . . 1 1538 10 1.I 0,0,0 +. 9 132632117 T G - USP20 12619 Ubiquitin specific peptidase 20 NM_001008563.4 1 4442 2745 NP_001008563.2 Q9Y2K6 substitution missense exon GRCh37 132632117 132632117 Chr9(GRCh37):g.132632117T>G 1559 1559 NM_001008563.4:c.1559T>G p.Ile520Ser p.Ile520Ser 14 615143 -7 5' 69.8529 8.66587 0.53331 4.66408 69.8529 8.66587 0.417459 4.71549 -0.07241 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transversion T G T>G 1.000 4.322 I Ile ATC 0.481 S Ser AGC 0.243 520 13 9 Zebrafish -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 353.86 0.00 Deleterious 0.05 III.51 221 PASS . . . . . . . . . . . . . . . . 0.21621622 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.642 . @ . . . . . 1 0.588 . . 74.0 . . . . . . . . . . 0.3134 0.393 0.313 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.192 . . exonic exonic exonic . . 0.620 @ . . . . . . ENSG00000136878 USP20 USP20 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.469 0.024 . . 37 . 0.248 . . 0.048 . . . 0.426 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.519 . . 0 0 0 0 0 0 . 0.362 . . 0.435 . . . . . . 1 0.654 . . . . . 0.641 . 0.816 . HET 0 . . . . . . . . . . . . . 14.0445 . . IV.84 IV.84 . 0.010000 Q9Y2K6 . . . . . 0.606 . . IV.84 . . . . . . . . . . . . . . . . . . . 0.495 . 2.165 2.165000 . . 0.010000 . . 1.0E-221 1.000 0.715 . 0.308 0.898 . 0.821 . 0.807 2.165 0.970 . . . . . 1 1538 10 1.I 0,0,0 +rs201778541 (chr9:133069672 A/G) 9 133069672 A G Not on a known gene +rs199553506 (chr9:133069705 C/T) 9 133069705 C T Not on a known gene +rs187454751 (chr9:133069775 C/T) 9 133069775 C T Not on a known gene +rs72768590 9 134072817 C G - NUP214 8064 Nucleoporin 214kDa NM_005085.3 1 7600 6273 NP_005076.3 P35658 substitution synonymous exon GRCh37 134072817 134072817 Chr9(GRCh37):g.134072817C>G 3936 3936 NM_005085.3:c.3936C>G p.Thr1312= p.Thr1312Thr 29 114350 215 3' 90.3038 8.53101 0.988197 XI.19 90.3038 8.53101 0.988197 XI.19 0 rs72768590 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.002342 0.001082 0.000901 0.000099 0.000000 0.001527 0.004131 0.000271 0.002167 0.004131 649 26 31 1 0 47 523 7 14 277104 24024 34420 10144 18864 30782 126616 25792 6462 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 647 26 31 1 0 47 521 7 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4399 12964 35 7 42 0.00406977 0.00158874 0.00322928 0.00406977 0.00158874 0.00322928 144 transversion C G C>G 0.000 -2.861 T Thr ACC 0.361 T Thr ACG 0.116 1312 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.001 0.001 . . NUP214:NM_005085:exon29:c.C3936G:p.T1312T . . 0.5487805 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 164.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acG|T1312|NUP214|mRNA|CODING|NM_005085|NM_005085.ex.29) 0.0016 0.0032 0.0041 0.0016 0.0032 0.0041 . -0.0649 . . . . . . . . 2.470e-03 . . . 0.0013 0.0020 0.0008 0 0.0003 0.0032 0 0.0016 0.0012 0.0024 0.0008 0 0.0002 0.0039 0 0.0016 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.42 0.28 182 ENSG00000126883 NUP214 NUP214 . . . . . . 211 0.00324735 64976 209 0.00348415 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72768590 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.003229 . . . . . 0.0011 0.0023 0.0009 0.0001 0 0.0002 0.0042 0.0022 0.0015 0.0010 0.0023 0.0012 0 0 0.0009 0.0038 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0041 . rs72768590 rs72768590 rs72768590 1 1538 10 1/0 0,243,255 +rs745663838 9 134346233 A C - PRRC2B 28121 Proline-rich coiled-coil 2B NM_013318.3 1 11062 6690 NP_037450.2 Q5JSZ5 substitution missense exon GRCh37 134346233 134346233 Chr9(GRCh37):g.134346233A>C 1970 1970 NM_013318.3:c.1970A>C p.Gln657Pro p.Gln657Pro 13 59 3' 83.4471 IX.87 0.829927 8.21317 83.4471 IX.87 0.829927 8.40598 0 transversion A C A>C 1.000 2.950 Q Gln CAG 0.744 P Pro CCG 0.115 657 11 7 Dog -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C15 57.03 65.86 Deleterious 0.03 III.73 bad 2.858E-4 0.005919 203 PASS . . . . . . . . . . . . . PRRC2B:NM_013318:exon13:c.A1970C:p.Q657P . . 0.17073171 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.286 . @ . . . . . 1 0.614 . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cCg|Q657P|PRRC2B|mRNA|CODING|NM_013318|NM_013318.ex.13) . . . . . . . -0.0524 0.151 -0.052 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.129 . . exonic exonic exonic . . 0.952 @ . . . . . . ENSG00000130723 PRRC2B PRRC2B . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.263 . . . . T 0.305 0.012 . . 37 . 0.125 . . 0.119 . . . 0.456 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.131 . . 0.104 . . . . . . 0 0.308 . . . . . 0.496 . 0.603 . HET 0.06 . . . . . . . . . . . . . 11.514 . . V.91 V.91 . 0.300000 Q5JSZ5 . . . . . 0.582 . . V.91 . . . . . . . . . . . . . . . . . . . 0.522 . 2.269 2.269000 . . 0.300000 . . 1.0E-203 1.000 0.715 . 0.303 0.997 . 0.605 . 0.960 2.269 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs200177146 9 135522185 A G - DDX31 16715 DEAD-box helicase 31 NM_022779.8 -1 4577 2556 NP_073616.6 Q9H8H2 substitution intron GRCh37 135522185 135522185 Chr9(GRCh37):g.135522185A>G 1518+25 1518+25 NM_022779.8:c.1518+25T>C p.? p.? 12 12 616533 25 5' 79.9214 6.03361 0.75359 2.86365 79.9214 6.03361 0.75359 3.14774 0 rs200177146 yes no Frequency 1 A 0.000000 0 0.000471 0.000000 0.000000 0.002272 0.000000 0.000000 0.000733 0.000505 0.000310 0.002272 130 0 0 23 0 0 92 13 2 275876 24020 34394 10122 18868 30764 125490 25762 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 128 0 0 23 0 0 90 13 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4406 12999 7 0 7 0.000813953 0 0.000538213 0.000813953 0 0.000538213 68 transition T C T>C 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.4189189 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.3190 . . . . . . . . 4.186e-04 . . . 0 0.0004 0 0 0 0.0009 0 0 0 0.0004 0 0 0.0006 0.0007 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.26 0.22 182 ENSG00000125485 DDX31 DDX31 . . . . . . 40 0.000615612 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200177146 . . . . . . . . . . . . . . . . . . . . . . . 0.000538 . . . . . 0 0.0004 0 0.0023 0 0.0005 0.0006 0.0002 0 0 0.0009 0 0 0 0.0006 0.0016 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs200177146 rs200177146 1 1538 10 1/0 0,255,255 +rs186926106 9 135523711 T C - DDX31 16715 DEAD-box helicase 31 NM_022779.8 -1 4577 2556 NP_073616.6 Q9H8H2 substitution intron GRCh37 135523711 135523711 Chr9(GRCh37):g.135523711T>C 1176-29 1176-29 NM_022779.8:c.1176-29A>G p.? p.? 11 10 616533 -29 3' 83.8909 7.38495 0.512526 V.99 83.8909 7.38495 0.512526 5.31395 0 135523711 -70.6016 rs186926106 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.001758 0.000546 0.001439 0.001738 0.000000 0.000000 0.002693 0.001757 0.002568 0.002693 472 13 47 17 0 0 334 45 16 268486 23822 32670 9782 18026 28318 124022 25616 6230 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 470 13 47 17 0 0 332 45 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4404 12974 30 2 32 0.00348837 0.000453926 0.0024604 0.00348837 0.000453926 0.0024604 47 transition A G A>G 0.000 -3.023 255 PASS . 0.0009 . . 0.0026 . 0.0006 0.0014 . 0.002 . . . . . . 0.45238096 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0005 0.0025 0.0035 0.0005 0.0025 0.0035 . -0.1148 . . . . . . . . 1.760e-03 . . . 0.0004 0.0015 0.0012 0 0.0013 0.0026 0.0028 0 0.0003 0.0017 0.0013 0 0.0021 0.0027 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.3 0.31 182 ENSG00000125485 DDX31 DDX31 . . . . . . 154 0.00237011 64976 151 0.00251725 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186926106 . . . . . . . . . . . . . . . . . . . . . . . 0.002460 . . . . . 0.0005 0.0017 0.0014 0.0018 0 0.0019 0.0026 0.0029 0 0.0007 0.0019 0.0036 0 0 0.0011 0.0031 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0035 . . rs186926106 rs186926106 1 1538 10 1/0 0,255,255 +rs62576761 9 135895156 A T - SNORD141A 51406 Small nucleolar RNA, C/D box 141A NR_132980.1 -1 105 0 substitution downstream GRCh37 135895156 135895156 Chr9(GRCh37):g.135895156A>T *661 *661 NR_132980.1:n.*661T>A p.? p.? 1 rs62576761 no no 0 A 0.000000 0 0.008148 0.003904 0.027439 0.027778 0.000000 0.000000 0.010708 0.005305 0.009302 0.027778 223 30 18 7 0 0 144 16 8 27370 7684 656 252 1454 0 13448 3016 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 30 18 7 0 0 144 16 8 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion T A T>A 1.000 2.062 213 PASS . . . . . . . . . . . . . . . . 0.19642857 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 56.0 . . . . . . . . . . 1.1666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.55 0.4 182 ENSG00000196205 . . . dist\x3d28072\x3bdist\x3d10906 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62576761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0039 0.0081 0.0274 0.0278 0 0.0053 0.0107 0.0093 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs62576761 rs62576761 rs62576761 rs148740450 1 1538 10 1/0 0,255,255 +rs62576762 9 135895217 T G - SNORD141A 51406 Small nucleolar RNA, C/D box 141A NR_132980.1 -1 105 0 substitution downstream GRCh37 135895217 135895217 Chr9(GRCh37):g.135895217T>G *600 *600 NR_132980.1:n.*600A>C p.? p.? 1 rs62576762 no no 0 T 0.000000 0 0.007825 0.006965 0.024038 0.009709 0.005822 0.000000 0.007667 0.008820 0.005000 0.024038 204 52 15 2 8 0 97 26 4 26070 7466 624 206 1374 0 12652 2948 800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 204 52 15 2 8 0 97 26 4 0 0 0 0 0 0 0 0 0 RF 46 Genomes transversion A C A>C 0.992 0.125 217 PASS . . . . . . . . . . . . . . . . 0.20754717 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . 0.9212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.61 0.4 182 ENSG00000196205 . . . dist\x3d28133\x3bdist\x3d10845 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62576762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0070 0.0078 0.0240 0.0097 0.0058 0.0088 0.0077 0.005 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs62576762 rs62576762 rs62576762 rs375354028 1 1538 10 1/0 0,255,255 +rs62576763 9 135895245 G A - SNORD141A 51406 Small nucleolar RNA, C/D box 141A NR_132980.1 -1 105 0 substitution downstream GRCh37 135895245 135895245 Chr9(GRCh37):g.135895245G>A *572 *572 NR_132980.1:n.*572C>T p.? p.? 1 rs62576763 no no 0 G 0.000000 0 0.001526 0.001815 0.012270 0.000000 0.002075 0.000000 0.000698 0.001926 0.001202 0.012270 41 14 8 0 3 0 9 6 1 26868 7712 652 210 1446 0 12900 3116 832 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 14 8 0 3 0 9 6 1 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 1.000 4.402 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 56.0 . . . . . . . . . . I.92 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.65 0.48 182 ENSG00000196205 . . . dist\x3d28161\x3bdist\x3d10817 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62576763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.53 . . . . . . . . . 0.0018 0.0015 0.0123 0 0.0021 0.0019 0.0007 0.0012 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs62576763 rs62576763 rs62576763 rs62576763 1 1538 10 1/0 0,255,255 +rs35767802 9 136419629 G A - ADAMTSL2 14631 ADAMTS-like 2 NM_014694.3 1 3726 2856 NP_055509.2 Q86TH1 substitution missense exon GRCh37 136419629 136419629 Chr9(GRCh37):g.136419629G>A 1090 1090 NM_014694.3:c.1090G>A p.Val364Ile p.Val364Ile 10 612277 151 3' 86.3878 XI.67 0.995124 13.642 86.3878 XI.67 0.995124 13.642 0 rs35767802 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.440 V Val GTC 0.240 I Ile ATC 0.481 364 11 4 Opossum 3 3 4 0 0 5.IX 5.II 84 111 29 C0 235.27 0.00 Tolerated 0.62 IV.32 good 9.835E-1 0.004019 255 PASS . . . . . . . . . . . . . . . . 0.41428572 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.123 . . 70.0 . . . . . . . . . . -1.2570 -1.308 -1.257 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.618 . . exonic exonic exonic . . 0.030 @ . . . 0.45 0.41 182 ENSG00000197859 ADAMTSL2 ADAMTSL2 . . . 0.999 0.386 . . . . . . . Uncertain_significance . 0 . 0.156 . . . . T 0.429 0.020 . . 37 . 0.356 . . 0.154 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 1 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.127 . . . . . 0.554 . 0.072 . HET 0.52 rs35767802 0.152 0.145 . . . . . . . . . . XII.44 . . IV.72 -4.69 . 0.200000 Q86TH1 . . . . . 0.139 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.684 -0.684000 . . 0.200000 . . 1.0E-255 0.003 0.159 . 0.135 0.483 . 0.176 . 0.087 -0.684 -1.874 0.15 rs35767802 rs35767802 rs35767802 rs201141885 1 1538 10 1/0 0,255,255 +rs1064975 9 136434598 A G - ADAMTSL2 14631 ADAMTS-like 2 NM_014694.3 1 3726 2856 NP_055509.2 Q86TH1 substitution synonymous exon GRCh37 136434598 136434598 Chr9(GRCh37):g.136434598A>G 2313 2313 NM_014694.3:c.2313A>G p.Val771= p.Val771Val 16 612277 69 3' 80.8719 X.04 0.884761 15.2392 80.8719 X.04 0.884761 15.5329 0 Cryptic Donor Strongly Activated 136434598 0.000321 52.8169 3.07142 0.0148 64.953 Thrombospondin, type 1 repeat rs1064975 yes no Frequency 1 A 0.000000 0 COSM4371879 Lung 0.000419 2389 transition A G A>G 0.984 -0.198 V Val GTA 0.114 V Val GTG 0.468 771 255 PASS . . . . . . . . . . . . . . . . 0.44055945 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 143.0 . . . . . . . . . . 0.9281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.31 182 ENSG00000197859 ADAMTSL2 ADAMTSL2 . . . . . . 38225 0.588294 64976 35982 0.59984 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1064975 0.707 0.710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.71 rs1064975 rs1064975 rs1064975 rs1064975 1 1538 10 1/0 0,241,255 +. 9 136648611 A G - VAV2 12658 Vav 2 guanine nucleotide exchange factor NM_001134398.1 -1 4851 2637 NP_001127870.1 P52735 substitution intron GRCh37 136648611 136648611 Chr9(GRCh37):g.136648611A>G 1723+14 1723+14 NM_001134398.1:c.1723+14T>C p.? p.? 19 19 600428 14 5' 70.4593 7.67679 0.864075 10.0549 70.4593 7.67679 0.864075 X.34 0 0.000035 0.000000 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 0.000071 1 0 0 0 0 0 1 0 0 28888 7764 822 292 1604 0 14056 3414 936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition T C T>C 0.000 -0.360 184 PASS . . . . . . . . . . . . . . . . 0.12162162 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 74.0 . . . . . . . . . . 0.2968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000160293 VAV2 VAV2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.462e-05 0 0 0 0 7.114e-05 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs116715381 9 137593098 C T - COL5A1 2209 Collagen type V alpha 1 chain NM_000093.4 1 8440 5517 NP_000084.3 P20908 substitution synonymous exon GRCh37 137593098 137593098 Chr9(GRCh37):g.137593098C>T 573 573 NM_000093.4:c.573C>T p.Leu191= p.Leu191Leu 4 120215 -82 5' 86.8044 8.70331 0.993239 XI.39 86.8044 8.70331 0.993239 XI.39 0 Cryptic Acceptor Weakly Activated 137593107 5.85999 0.208203 78.4643 5.83511 0.344353 81.1761 Laminin G domain Concanavalin A-like lectin/glucanases superfamily rs116715381 yes no Frequency/1000G 2 C benign,likely_benign 0.000000 0 0.002596 0.005300 0.000000 0.003000 0.001000 0.002900 0.001941 0.007966 0.002180 0.002667 0.004031 0.000618 0.000990 0.000039 0.003565 0.007966 537 191 75 27 76 19 125 1 23 276596 23978 34402 10124 18852 30766 126270 25752 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 537 191 75 27 76 19 125 1 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4371 12962 9 35 44 0.00104651 0.00794371 0.00338305 0.00104651 0.00794371 0.00338305 136 RCV000124478.5|RCV000463013.1|RCV000246811.1|RCV000278708.1 germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Benign|Likely benign|Likely benign 2|1|1|1 not specified|Ehlers-Danlos syndrome, classic type|Thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome, type 7A COSM5008466 Large intestine 0.000416 2401 transition C T C>T 0.969 -0.037 L Leu CTC 0.197 L Leu CTT 0.129 191 255 PASS 0.01 0.0037 0.0028 0.0035 . 0.0053 0.0026 0.0029 0.003 0.001 . ENSG00000130635:ENST00000371817:exon4:c.C573T:p.L191L . . . . 0.4814815 . . germline 26 . . 1.2.2016 0 0 0 0 1 0 1 1 1 1 0 0 . . . . . . . . Benign//\%//\@Likely//\@benign//\%//\@Likely//\@benign Benign|Likely_benign|Likely_benign RCV000124478.5|RCV000246811.1|RCV000278708.1 . MedGen|MedGen:Orphanet|MedGen CN169374|CN118826:ORPHA91387|CN071434 2 . . . 54.0 . . . 0.0079 0.0034 0.001 0.0079 0.0034 0.001 . 0.0866 . . . . . . . . 1.903e-03 . . . 0.0086 0.0023 0.0021 0.0046 0 0.0014 0.0043 0.0005 0.0082 0.0020 0.0021 0.0052 0.0002 0.0011 0.0044 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.36 0.35 182 ENSG00000130635 COL5A1 COL5A1 . . . . . . 84 0.00129279 64976 71 0.00118361 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116715381 0.011 0.007 . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000124478.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000124478.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . 0.003383 . . . . . 0.0089 0.0019 0.0022 0.0026 0.0043 4.493e-05 0.0010 0.0040 0.0006 0.0064 0.0024 0.0012 0.0033 0.0012 0 0.0008 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs116715381 rs116715381 1 1538 10 1/0 0,255,255 +rs3827852 9 137688800 A G - COL5A1 2209 Collagen type V alpha 1 chain NM_000093.4 1 8440 5517 NP_000084.3 P20908 substitution intron GRCh37 137688800 137688800 Chr9(GRCh37):g.137688800A>G 2898+53 2898+53 NM_000093.4:c.2898+53A>G p.? p.? 36 36 120215 53 5' 78.4708 7.52484 0.919264 8.06761 78.4708 7.52484 0.919264 7.74344 0 rs3827852 yes no Frequency/1000G 2 0.000000 0 0.699281 0.866100 0.602200 0.827400 0.550700 0.547600 transition A G A>G 0.000 0.044 111 PASS . . . . . 0.87 0.7 0.55 0.83 0.55 0.6 . . . . . 0.29761904 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . -0.1513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3007 . . . 0.1 0.28 182 ENSG00000130635 COL5A1 COL5A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3827852 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs3827852 rs3827852 rs3827852 rs3827852 1 1538 10 1.I 108,1,0 +. 9 137742538 GA G - MIR3689A 38904 MicroRNA 3689a NR_037460.1 -1 78 0 deletion downstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del *115 *115 NR_037460.1:n.*115del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689B 38924 MicroRNA 3689b NR_037469.1 -1 148 0 deletion upstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del -421 -421 NR_037469.1:n.-421del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689C 41816 MicroRNA 3689c NR_039691.1 -1 71 0 deletion downstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del *142 *142 NR_039691.1:n.*142del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689D1 41621 MicroRNA 3689d-1 NR_039693.1 -1 74 0 deletion upstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del -339 -339 NR_039693.1:n.-339del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689D2 41846 MicroRNA 3689d-2 NR_039694.1 -1 80 0 deletion upstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del -337 -337 NR_039694.1:n.-337del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689E 41887 MicroRNA 3689e NR_039695.1 -1 71 0 deletion downstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del *142 *142 NR_039695.1:n.*142del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689F 41702 MicroRNA 3689f NR_039696.1 -1 66 0 deletion downstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del *49 *49 NR_039696.1:n.*49del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +rs148368571 9 137742541 A G - MIR3689A 38904 MicroRNA 3689a NR_037460.1 -1 78 0 substitution downstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G *113 *113 NR_037460.1:n.*113T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689B 38924 MicroRNA 3689b NR_037469.1 -1 148 0 substitution upstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G -423 -423 NR_037469.1:n.-423T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689C 41816 MicroRNA 3689c NR_039691.1 -1 71 0 substitution downstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G *140 *140 NR_039691.1:n.*140T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689D1 41621 MicroRNA 3689d-1 NR_039693.1 -1 74 0 substitution upstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G -341 -341 NR_039693.1:n.-341T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689D2 41846 MicroRNA 3689d-2 NR_039694.1 -1 80 0 substitution upstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G -339 -339 NR_039694.1:n.-339T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689E 41887 MicroRNA 3689e NR_039695.1 -1 71 0 substitution downstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G *140 *140 NR_039695.1:n.*140T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689F 41702 MicroRNA 3689f NR_039696.1 -1 66 0 substitution downstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G *47 *47 NR_039696.1:n.*47T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs118149996 9 137742545 C T - MIR3689A 38904 MicroRNA 3689a NR_037460.1 -1 78 0 substitution downstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T *109 *109 NR_037460.1:n.*109G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689B 38924 MicroRNA 3689b NR_037469.1 -1 148 0 substitution upstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T -427 -427 NR_037469.1:n.-427G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689C 41816 MicroRNA 3689c NR_039691.1 -1 71 0 substitution downstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T *136 *136 NR_039691.1:n.*136G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689D1 41621 MicroRNA 3689d-1 NR_039693.1 -1 74 0 substitution upstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T -345 -345 NR_039693.1:n.-345G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689D2 41846 MicroRNA 3689d-2 NR_039694.1 -1 80 0 substitution upstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T -343 -343 NR_039694.1:n.-343G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689E 41887 MicroRNA 3689e NR_039695.1 -1 71 0 substitution downstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T *136 *136 NR_039695.1:n.*136G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689F 41702 MicroRNA 3689f NR_039696.1 -1 66 0 substitution downstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T *43 *43 NR_039696.1:n.*43G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs117542222 9 138393914 G C - MRPS2 14495 Mitochondrial ribosomal protein S2 NM_016034.4 1 1511 891 NP_057118.1 Q9Y399 substitution intron GRCh37 138393914 138393914 Chr9(GRCh37):g.138393914G>C 299+95 299+95 NM_016034.4:c.299+95G>C p.? p.? 3 3 611971 95 5' 89.9194 X.02 0.956905 X.52 89.9194 X.02 0.956905 X.52 0 Cryptic Acceptor Strongly Activated 138393921 4.46339 0.345411 9.98874 0.659722 82.4791 rs117542222 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001131 0.000344 0.001193 0.000000 0.000000 0.000000 0.001734 0.000859 0.002037 0.001734 35 3 1 0 0 0 26 3 2 30956 8724 838 302 1622 0 14994 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 3 1 0 0 0 26 3 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G C G>C 0.000 0.286 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.53061223 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 49.0 . . . . . . . . . . 0.8010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic splicing intronic . . . 0.0006 . . . 0.47 0.2 182 ENSG00000122140 MRPS2 MRPS2 . . . . . . 44 0.000677173 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs117542222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0.0012 0 0 0.0009 0.0017 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs117542222 rs117542222 1 1538 10 1/0 0,255,255 +rs117497154 9 138591319 C G - SOHLH1 27845 Spermatogenesis and oogenesis specific basic helix-loop-helix 1 NM_001101677.1 -1 1415 1164 NP_001095147.1 substitution 5'UTR GRCh37 138591319 138591319 Chr9(GRCh37):g.138591319C>G -6 -6 NM_001101677.1:c.-6G>C p.? p.? 1 610224 -71 5' 78.4828 5.85038 0.133946 7.52366 78.4828 5.85038 0.133946 VII.33 0 rs117497154 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.001288 0.000171 0.000468 0.000000 0.000000 0.001447 0.001708 0.002627 0.001586 0.002627 348 4 16 0 0 44 209 65 10 270144 23440 34162 10022 18710 30398 122368 24740 6304 0.000015 0.000000 0.000000 0.000000 0.000000 0.000132 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 344 4 16 0 0 40 209 65 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4392 12971 9 0 9 0.00104797 0 0.000693374 0.00104797 0 0.000693374 36 transversion G C G>C 0.000 -0.844 255 PASS . 0.0023 0.0028 . 0.01 . 0.0012 0.0014 . 0.005 . . . . . . 0.52272725 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . . . 0.0007 0.001 . 0.0007 0.001 . 0.4308 . . . . . . . . 1.440e-03 . . . 0 0.0012 0.0002 0 0.0028 0.0017 0.0017 0.0018 0 0.0017 0.0001 0 0.0035 0.0023 0.0017 0.0018 . . . . . . UTR5 UTR5 UTR5 . . . 0.0012 . . . 0.5 0.55 182 ENSG00000165643 SOHLH1 SOHLH1 . . . . . . 43 0.000661783 64976 38 0.000633481 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117497154 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000693 . . . . . 0.0001 0.0013 0.0005 0 0 0.0025 0.0017 0.0017 0.0014 0.0002 0.0014 0 0 0 0.0032 0.0019 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs117497154 rs117497154 1 1538 10 1/0 0,255,255 +rs200447810 9 138591332 C A - SOHLH1 27845 Spermatogenesis and oogenesis specific basic helix-loop-helix 1 NM_001101677.1 -1 1415 1164 NP_001095147.1 substitution 5'UTR GRCh37 138591332 138591332 Chr9(GRCh37):g.138591332C>A -19 -19 NM_001101677.1:c.-19G>T p.? p.? 1 610224 -84 5' 78.4828 5.85038 0.133946 7.52366 78.4828 5.85038 0.133946 7.52366 0 Cryptic Acceptor Strongly Activated 138591323 7.60388 0.014531 71.347 9.68728 0.172808 76.7823 rs200447810 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.001295 0.000176 0.000474 0.000000 0.000000 0.001485 0.001722 0.002598 0.001622 0.002598 341 4 16 0 0 44 205 62 10 263416 22724 33736 9878 18380 29632 119038 23862 6166 0.000015 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 337 4 16 0 0 40 205 62 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8578 4386 12964 10 0 10 0.00116442 0 0.000770772 0.00116442 0 0.000770772 30 transversion G T G>T 0.000 -1.167 255 PASS . 0.0023 0.0028 . 0.01 . 0.0012 0.0014 . 0.005 . . . . . . 0.47368422 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . . . 0.0008 0.0012 . 0.0008 0.0012 . 0.2821 . . . . . . . . 1.405e-03 . . . 0 0.0013 0.0002 0 0.0029 0.0017 0.0019 0.0019 0 0.0017 0.0001 0 0.0035 0.0023 0.0019 0.0019 . . . . . . UTR5 UTR5 UTR5 . . . 0.0012 . . . 0.59 0.58 182 ENSG00000165643 SOHLH1 SOHLH1 . . . . . . 41 0.000631002 64976 36 0.00060014 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200447810 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000771 . . . . . 0.0001 0.0013 0.0005 0 0 0.0025 0.0017 0.0017 0.0015 0.0002 0.0014 0 0 0 0.0032 0.0019 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs200447810 rs200447810 1 1538 10 1/0 0,255,255 +. 9 138941807 C T - NACC2 23846 NACC family member 2, BEN and BTB (POZ) domain containing NM_144653.4 -1 6899 1764 NP_653254.1 Q96BF6 substitution synonymous exon GRCh37 138941807 138941807 Chr9(GRCh37):g.138941807C>T 561 561 NM_144653.4:c.561G>A p.Leu187= p.Leu187Leu 2 615786 -326 5' 82.2852 10.521 0.890621 XI.87 82.2852 10.521 0.890621 XI.87 0 transition G A G>A 0.976 0.044 L Leu CTG 0.404 L Leu CTA 0.070 187 255 PASS . . . . . . . . . . . . NACC2:uc004cgv.4:exon2:c.G561A:p.L187L NACC2:NM_144653:exon2:c.G561A:p.L187L . . 0.39473686 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L187|NACC2|mRNA|CODING|NM_144653|NM_144653.ex.2) . . . . . . . 1.1177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000148411 NACC2 NACC2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs76978793 9 139235370 C T - GPSM1 17858 G-protein signaling modulator 1 NM_001145638.2 1 3633 2028 NP_001139110.2 Q86YR5 substitution missense exon GRCh37 139235370 139235370 Chr9(GRCh37):g.139235370C>T 1127 1127 NM_001145638.2:c.1127C>T p.Ala376Val p.Ala376Val 9 609491 44 3' 74.8577 7.05544 0.894071 11.1007 74.8577 7.05544 0.894071 X.78 0 Cryptic Acceptor Strongly Activated 139235375 1.20682 3,00E-05 62.886 2.43062 9.6e-05 66.4316 rs76978793 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.002094 0.000495 0.001415 0.002612 0.000000 0.000120 0.003733 0.000963 0.002117 0.003733 436 9 40 23 0 3 331 19 11 208214 18172 28274 8806 14426 24940 88676 19724 5196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 436 9 40 23 0 3 331 19 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8410 4261 12671 22 3 25 0.00260911 0.000703565 0.00196912 0.00260911 0.000703565 0.00196912 11 transition C T C>T 0.039 1.739 A Ala GCG 0.107 V Val GTG 0.468 376 12 6 Chicken 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.24 III.36 255 PASS . . . . . . 0.0012 0.0014 . 0.005 . . . . . . 0.3773585 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.302 . @ . . . . . 1 0.611 . . 53.0 . . . 0.0007 0.002 0.0026 0.0007 0.002 0.0026 . -0.3875 -0.387 -0.388 c . . . . . 1.942e-03 . . . 0 0.0032 0.0038 0 0 0.0072 0.0109 0.0001 0 0.0048 0.0041 0 0.0081 0.0107 0.0125 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.779 . . exonic exonic exonic . . 0.442 0.0012 . . . 0.23 0.37 182 ENSG00000160360 GPSM1 GPSM1 . . . 1.000 0.747 . 154 0.00237011 64976 149 0.00248391 59986 Uncertain_significance . 0 . 0.432 . . . . . . . . . 37 . 0.599 . . 0.568 . . . 0.510 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.550 . . 0 0 0 0 0 0 . 0.402 . . 0.244 . . . . . . 0 0.208 . . . . . 0.349 . 0.634 . HET 0.05 . . . . . . . . . . . . . VIII.69 8.37E-4 . III.91 III.91 . 0.230000 . . . . 0.001969 . 0.287 . . III.91 0.0005 0.0020 0.0014 0.0025 0 0.0010 0.0036 0.0026 0.0001 0.0005 0.0025 0.0024 0.0066 0 0.0006 0.0045 0 . . 0.450 . 2.028 2.028000 . . 0.230000 . . 1.0E-255 0.721 0.286 . 0.222 0.433 . 0.453 . 0.348 2.028 0.871 0.0026 . . rs76978793 rs76978793 1 1538 10 1/0 0,255,255 +rs76185667 9 139243143 C T - GPSM1 17858 G-protein signaling modulator 1 NM_001145638.2 1 3633 2028 NP_001139110.2 Q86YR5 substitution intron GRCh37 139243143 139243143 Chr9(GRCh37):g.139243143C>T 1208-6 1208-6 NM_001145638.2:c.1208-6C>T p.? p.? 10 9 609491 -6 3' 87.8381 9.99903 0.859153 7.57789 89.9413 X.98 0.88695 7.89668 0.0297929 Cryptic Acceptor Weakly Activated 139243149 9.99903 0.859153 87.8381 X.98 0.88695 89.9413 rs76185667 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.002174 0.000471 0.001349 0.002504 0.000000 0.000066 0.003740 0.001045 0.002684 0.003740 590 11 46 25 0 2 463 26 17 271392 23338 34110 9986 18700 30270 123784 24870 6334 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 588 11 46 25 0 2 461 26 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4378 12942 26 4 30 0.00302678 0.000912825 0.00231267 0.00302678 0.000912825 0.00231267 35 transition C T C>T 0.110 0.367 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0012 0.0014 . 0.005 . . . . . . 0.4918033 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . 0.0009 0.0023 0.003 0.0009 0.0023 0.003 . 0.7715 . . . . . . . . 2.300e-03 . . . 0.0003 0.0022 0.0018 0 0.0009 0.0040 0.0040 7.601e-05 0.0003 0.0028 0.0019 0 0.0020 0.0045 0.0083 7.638e-05 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.31 0.39 182 ENSG00000160360 GPSM1 GPSM1 . . . . . . 145 0.00223159 64976 139 0.00231721 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0.002313 . . . . . 0.0005 0.0021 0.0013 0.0024 0 0.0011 0.0036 0.0032 6.607e-05 0.0005 0.0025 0.0024 0.0066 0 0.0006 0.0045 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.003 . . rs76185667 rs76185667 1 1538 10 1/0 0,255,255 +rs61731233 9 139286443 G A - SNAPC4 11137 Small nuclear RNA activating complex polypeptide 4 NM_003086.3 -1 4658 4410 NP_003077.2 Q5SXM2 substitution missense exon GRCh37 139286443 139286443 Chr9(GRCh37):g.139286443G>A 926 926 NM_003086.3:c.926C>T p.Ala309Val p.Ala309Val 9 602777 -50 5' 82.9658 8.05386 0.92998 9.87655 82.9658 8.05386 0.92998 9.46719 0 SANT/Myb domain Myb-like domain Homeodomain-like rs61731233 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.001992 0.000334 0.001366 0.003157 0.000106 0.000130 0.003359 0.000571 0.002334 0.003359 545 8 47 32 2 4 424 13 15 273576 23974 34410 10136 18858 30782 126212 22776 6428 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 543 8 47 32 2 4 422 13 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4404 12977 25 2 27 0.00290765 0.000453926 0.00207628 0.00290765 0.000453926 0.00207628 68 transition C T C>T 0.764 5.048 A Ala GCG 0.107 V Val GTG 0.468 309 12 10 Zebrafish 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 244.41 35.60 Tolerated 0.05 II.76 255 PASS . 0.0014 0.0028 . 0.0026 . 0.001 0.0014 . 0.004 . ENSG00000165684:ENST00000298532:exon9:c.C926T:p.A309V SNAPC4:uc004chh.3:exon9:c.C926T:p.A309V SNAPC4:NM_003086:exon9:c.C926T:p.A309V . . 0.3962264 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.750 . @ . . . . . 1 0.974 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A309V|SNAPC4|mRNA|CODING|NM_003086|NM_003086.ex.9) 0.0005 0.0021 0.0029 0.0005 0.0021 0.0029 . 0.2772 0.247 0.277 c . . . . . 2.076e-03 . . . 9.752e-05 0.0017 0.0014 0 0.0008 0.0032 0.0028 0.0001 0.0001 0.0020 0.0014 0.0001 0.0006 0.0034 0.0058 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.883 0.0010 . . . 0.24 0.32 182 ENSG00000165684 SNAPC4 SNAPC4 . . . 1.000 0.747 . 111 0.00170832 64976 106 0.00176708 59986 Uncertain_significance . 0 . 0.486 . . . . D 0.547 0.033 . . 37 . 0.385 . . 0.505 . . . 0.096 0.452 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.655 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.313 . . . . . 0.920 . 0.349 . HET 0.02 rs61731233 . . . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 18.8043 5.35E-4 ENST00000298532 V.69 V.69 . 0.000000 Q5SXM2 . . . 0.002076 . 0.556 . . V.69 0.0003 0.0020 0.0013 0.0031 0.0001 0.0006 0.0033 0.0028 0.0001 0.0003 0.0022 0.0024 0.0066 0 0.0003 0.0039 0 . . 0.522 . 2.681 2.681000 . . 0.000000 . . 1.0E-255 0.990 0.367 . 0.114 0.029 . 0.637 . 0.713 2.681 0.917 0.0029 . . rs61731233 rs61731233 1 1538 10 1/0 0,255,255 +rs117487093 9 139752023 A T - MAMDC4 24083 MAM domain containing 4 NM_206920.2 1 3660 3414 NP_996803.2 substitution missense exon GRCh37 139752023 139752023 Chr9(GRCh37):g.139752023A>T 2311 2311 NM_206920.2:c.2311A>T p.Thr771Ser p.Thr771Ser 18 617208 -16 5' 84.5009 IX.03 0.976817 XI.67 84.5009 IX.03 0.976817 XI.23 0 MAM domain rs117487093 yes no Frequency/1000G 2 A 0.000000 0 0.001198 0.000000 0.002000 0.000000 0.003000 0.001400 0.004214 0.000968 0.002501 0.000695 0.000053 0.001950 0.006319 0.005918 0.006067 0.006319 1160 23 86 7 1 60 793 151 39 275250 23764 34388 10076 18806 30768 125504 25516 6428 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000078 0.000000 5 0 0 0 0 0 4 1 0 1150 23 86 7 1 60 785 149 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4398 12934 58 4 62 0.00674889 0.000908678 0.0047707 0.00674889 0.000908678 0.0047707 35 transversion A T A>T 0.992 1.739 T Thr ACT 0.243 S Ser TCT 0.185 771 10 10 Chicken 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C55 0.00 57.75 Deleterious 0 III.51 bad 5.383E-3 2.327E-5 255 PASS . 0.0009 . . 0.0026 . 0.0012 0.0014 . 0.003 0.002 . . MAMDC4:NM_206920:exon18:c.A2311T:p.T771S . . 0.42372882 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.458 . @ . . . . . 1 0.485 . . 118.0 . . . 0.0009 0.0048 0.0067 0.0009 0.0048 0.0067 . 0.1300 0.060 0.130 c . . . . . 3.903e-03 . . . 0.0010 0.0034 0.0015 0 0.0045 0.0056 0.0044 0.0017 0.0011 0.0037 0.0014 0 0.0055 0.0055 0.0043 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.469 0.0012 . . . 0.46 0.28 182 ENSG00000177943 MAMDC4 MAMDC4 . . . 1.000 0.747 . 325 0.00500185 64976 319 0.00531791 59986 Uncertain_significance . 0 . 0.523 . . . . D 0.617 0.045 . . 37 . 0.044 . . 0.202 . . . 0.618 0.274 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.626 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 4 0.291 . . . . . 0.351 . 0.439 . HET 0.12 rs117487093 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 9.0088 8.03E-4 . 4.IX 4.IX . 0.610000 . . . . 0.004771 . 0.248 . . 4.IX 0.0010 0.0042 0.0025 0.0007 5.817e-05 0.0061 0.0064 0.0053 0.0020 0.0009 0.0040 0.0012 0 0 0.0049 0.0058 0.0102 . . 0.495 . 1.622 1.622000 . . 0.610000 . . 1.0E-255 0.997 0.399 . 0.277 0.985 . 0.432 . 0.649 1.622 1.062 0.0067 . . rs117487093 rs117487093 1 1538 10 1/0 0,248,255 +. 9 139839919 T TG - C8G 1354 Complement component 8, gamma polypeptide NM_000606.2 1 877 609 NP_000597.2 P07360 duplication intron GRCh37 139839927 139839928 Chr9(GRCh37):g.139839927dup 138+17 138+17 NM_000606.2:c.138+17dup p.? p.? 1 1 120930 17 5' 72.4389 6.68312 0.842291 9.43955 72.4389 6.68312 0.842291 8.66021 0 rs752385888 yes no Frequency 1 0.000000 0 0.003195 0.006100 0.002000 0.000000 0.003000 0.004300 0.002571 0.007869 0.001403 0.002865 0.001782 0.003715 0.002034 0.000720 0.002044 0.007869 488 135 35 24 23 87 160 14 10 189806 17156 24946 8376 12910 23418 78674 19434 4892 0.000021 0.000000 0.000000 0.000000 0.000000 0.000171 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 484 135 35 24 23 83 160 14 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8008 4050 12058 68 58 126 0.00842001 0.0141188 0.0103414 0.00842001 0.0141188 0.0103414 10 G 255 Pass . . . . . . . . . . . . . . . . 0.3508772 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 114 . . . . . . 0.014 0.01 0.0084 . . . . . . . . . . . . . . 0.0069 0.0032 0 0.0015 0 0.0022 0.0095 0.0039 0.0068 0.0027 0 0 0 0.0013 0.0061 0.0039 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000176919 C8G C8G . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374027600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0077 0.0024 0.0014 0.0027 0.0018 0.0007 0.0021 0.0023 0.0037 0.0081 0.0035 0.0025 0.0068 0.0019 0.0009 0.0017 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,45 +. 9 139839919 T TG - FBXW5 13613 F-box and WD repeat domain containing 5 NM_018998.3 -1 2380 1701 NP_061871.1 Q969U6 duplication upstream GRCh37 139839919 139839920 Chr9(GRCh37):g.139839920dup -898 -898 NM_018998.3:c.-898dup p.? p.? 1 609072 -874 5' 84.0719 8.94615 0.964922 14.3847 84.0719 8.94615 0.964922 14.3847 0 rs752385888 yes no Frequency 1 0.000000 0 0.003195 0.006100 0.002000 0.000000 0.003000 0.004300 0.002571 0.007869 0.001403 0.002865 0.001782 0.003715 0.002034 0.000720 0.002044 0.007869 488 135 35 24 23 87 160 14 10 189806 17156 24946 8376 12910 23418 78674 19434 4892 0.000021 0.000000 0.000000 0.000000 0.000000 0.000171 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 484 135 35 24 23 83 160 14 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8008 4050 12058 68 58 126 0.00842001 0.0141188 0.0103414 0.00842001 0.0141188 0.0103414 10 C 255 Pass . . . . . . . . . . . . . . . . 0.3508772 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 114 . . . . . . 0.014 0.01 0.0084 . . . . . . . . . . . . . . 0.0069 0.0032 0 0.0015 0 0.0022 0.0095 0.0039 0.0068 0.0027 0 0 0 0.0013 0.0061 0.0039 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000176919 C8G C8G . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374027600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0077 0.0024 0.0014 0.0027 0.0018 0.0007 0.0021 0.0023 0.0037 0.0081 0.0035 0.0025 0.0068 0.0019 0.0009 0.0017 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,45 +. 9 139903352 G GC - ABCA2 32 ATP-binding cassette, sub-family A (ABC1), member 2 NM_212533.2 -1 8146 7401 NP_997698.1 duplication intron GRCh37 139903352 139903353 Chr9(GRCh37):g.139903353dup 7021-33 7021-33 NM_212533.2:c.7021-33dup p.? p.? 47 46 600047 -32 3' 83.5822 X.65 0.978998 8.73921 83.5822 X.65 0.978998 9.64107 0 rs59031144 yes no Frequency/1000G 2 0.000000 0 0.679113 0.588500 0.759700 0.817500 0.675000 0.543200 2489 1573 4062 5296 2038 7334 0.319717 0.435613 0.356441 0.680283 0.564387 0.643559 22 G 255 Pass 0.57 0.66 0.56 0.81 0.66 0.59 0.68 0.54 0.82 0.68 0.76 . . . . . 0.7236842 . . . 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 76 . . . . . . 0.56 0.64 0.68 . . . . . . . . . . . . . . 0.5615 0.6520 0.4749 0.7920 0.5881 0.6657 0.7033 0.7507 0.5589 0.6577 0.4751 0.7954 0.6144 0.6633 0.7052 0.7508 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000107331 ABCA2 ABCA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs397761371 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.81 . . rs59031144 rs59031144 1 1538 10 1.I 0,10,14 +rs117073885 9 139982664 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139982664 139982664 Chr9(GRCh37):g.139982664A>G 328+29 328+29 NM_016219.4:c.328+29A>G p.? p.? 2 2 604346 29 5' 71.4948 7.22101 0.765617 0 71.4948 7.22101 0.765617 0.662449 0 New Donor Site 139982663 5.42351 0.472073 67.9094 rs117073885 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.002000 0.000000 0.001000 0.001400 0.000812 0.000166 0.000552 0.003349 0.000000 0.000682 0.001066 0.000078 0.001546 0.003349 225 4 19 34 0 21 135 2 10 277218 24038 34420 10152 18868 30782 126698 25792 6468 0.000014 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 221 4 19 34 0 17 135 2 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4406 12997 9 0 9 0.00104651 0 0.000691988 0.00104651 0 0.000691988 146 transition A G A>G 0.000 -1.167 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0008 0.0014 . 0.001 0.002 . . . . . 0.44444445 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . 0.0007 0.001 . 0.0007 0.001 . 1.0549 . . . . . . . . 6.787e-04 . . . 9.632e-05 0.0008 0.0005 0 0.0003 0.0012 0.0014 0.0006 0 0.0006 0.0004 0 0.0002 0.0009 0.0014 0.0006 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.48 0.42 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . 44 0.000677173 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs117073885 . . . . . . . . . . . . . . . . . . . . . . . 0.000692 . . . . . 6.534e-05 0.0008 0.0005 0.0034 0 8.969e-05 0.0011 0.0016 0.0007 0.0003 0.0007 0.0012 0.0033 0 0 0.0010 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs117073885 rs117073885 1 1538 10 1/0 0,255,255 +rs117073885 9 139982664 A G - MAN1B1-AS1 48715 MAN1B1 antisense RNA 1 (head to head) NR_027447.1 -1 1872 0 substitution upstream GRCh37 139982664 139982664 Chr9(GRCh37):g.139982664A>G -1395 -1395 NR_027447.1:n.-1395T>C p.? p.? 1 rs117073885 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.002000 0.000000 0.001000 0.001400 0.000812 0.000166 0.000552 0.003349 0.000000 0.000682 0.001066 0.000078 0.001546 0.003349 225 4 19 34 0 21 135 2 10 277218 24038 34420 10152 18868 30782 126698 25792 6468 0.000014 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 221 4 19 34 0 17 135 2 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4406 12997 9 0 9 0.00104651 0 0.000691988 0.00104651 0 0.000691988 146 transition T C T>C 0.000 -1.167 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0008 0.0014 . 0.001 0.002 . . . . . 0.44444445 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . 0.0007 0.001 . 0.0007 0.001 . 1.0549 . . . . . . . . 6.787e-04 . . . 9.632e-05 0.0008 0.0005 0 0.0003 0.0012 0.0014 0.0006 0 0.0006 0.0004 0 0.0002 0.0009 0.0014 0.0006 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.48 0.42 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . 44 0.000677173 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs117073885 . . . . . . . . . . . . . . . . . . . . . . . 0.000692 . . . . . 6.534e-05 0.0008 0.0005 0.0034 0 8.969e-05 0.0011 0.0016 0.0007 0.0003 0.0007 0.0012 0.0033 0 0 0.0010 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs117073885 rs117073885 1 1538 10 1/0 0,255,255 +rs199642259 9 139996468 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996468 139996468 Chr9(GRCh37):g.139996468T>C 1254+344 1254+344 NM_016219.4:c.1254+344T>C p.? p.? 8 8 604346 344 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs199642259 yes no Frequency 1 0.000000 0 0.000427 0.001660 0.000134 0.000000 0.000100 0.000195 0.000153 0.002896 0.000259 0.002896 58 19 3 0 1 4 8 22 1 135778 11446 22432 7550 9964 20504 52418 7596 3868 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 19 3 0 1 4 8 22 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.094 0.448 208 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.T1301C:p.M434T . . . 0.19659443 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 646.0 . . . . . . . . . . -0.0548 . . . . . . . . 1.704e-03 . . . 0 0.0021 0.0060 0 0.03 0.0028 0 0.0014 0 0.0032 0.0071 0 0.0145 0.0028 0 0.0014 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.5 0.18 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs199642259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.066e-05 4.546e-05 0 0 0.0002 2.389e-05 0 0.0002 0.0031 0.0025 0.0046 0 0.0011 0.0132 0.0007 0.0018 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs199642259 rs199642259 1 1538 14 1/0 0,155,236 +rs758394970 9 139996494 C G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996494 139996494 Chr9(GRCh37):g.139996494C>G 1254+370 1254+370 NM_016219.4:c.1254+370C>G p.? p.? 8 8 604346 370 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs758394970 yes no Frequency 1 0.000000 0 0.000158 0.000756 0.000151 0.000000 0.000120 0.000217 0.000072 0.000102 0.000261 0.000756 21 7 3 0 1 4 4 1 1 132830 9260 19844 7520 8330 18398 55820 9822 3836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 7 3 0 1 4 4 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.331 -2.377 192 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1327G:p.L443V . . . 0.13828239 . . @ 95 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . . . . . . . . . -0.5485 . . . . . . . . 1.299e-03 . . . 0.0061 0.0016 0 0 0.0198 0.0021 0 0.0003 0.0089 0.0019 0 0 0.0062 0.0021 0 0.0003 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs758394970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 8.333e-05 0.0001 0 0.0001 0.0001 0 0 0.0002 0.0010 0.0005 0.0014 0 0 0 0.0003 0.0012 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,255 +rs767492543 9 139996497 T G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996497 139996497 Chr9(GRCh37):g.139996497T>G 1254+373 1254+373 NM_016219.4:c.1254+373T>G p.? p.? 8 8 604346 373 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 New Donor Site 139996496 2.73736 0.115205 62.7735 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28934 7782 786 292 1492 0 14244 3396 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 54 Genomes transversion T G T>G 0.189 -0.360 180 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.T1330G:p.L444V . . . 0.11353712 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . . . . . . . . . -0.2303 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,144,255 +. 9 139996502 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996502 139996502 Chr9(GRCh37):g.139996502C>T 1254+378 1254+378 NM_016219.4:c.1254+378C>T p.? p.? 8 8 604346 378 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 0.000073 1 0 0 0 0 0 1 0 0 27786 7498 756 290 1414 0 13678 3252 898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition C T C>T 0.000 -1.651 179 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1335T:p.H445H . . . 0.11035422 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 734.0 . . . . . . . . . . -0.5727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.599e-05 0 0 0 0 7.311e-05 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,141,255 +. 9 139996503 A T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996503 139996503 Chr9(GRCh37):g.139996503A>T 1254+379 1254+379 NM_016219.4:c.1254+379A>T p.? p.? 8 8 604346 379 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139996517 7.02416 0.035075 81.9917 7.89285 0.144115 87.3922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11992 3392 208 224 370 0 6796 724 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 132 Genomes transversion A T A>T 0.000 -1.086 191 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.A1336T:p.T446S . . . 0.13655172 . . @ 99 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 725.0 . . . . . . . . . . -0.5572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,144,252 +. 9 139996533 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996533 139996533 Chr9(GRCh37):g.139996533T>C 1254+409 1254+409 NM_016219.4:c.1254+409T>C p.? p.? 8 8 604346 409 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 transition T C T>C 0.976 0.851 197 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.T1366C:p.C456R . . . 0.1573604 . . @ 124 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 788.0 . . . . . . . . . . -0.1257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,254 +. 9 139996540 T TTCAC - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 insertion intron GRCh37 139996540 139996541 Chr9(GRCh37):g.139996540_139996541insTCAC 1254+416 1254+417 NM_016219.4:c.1254+416_1254+417insTCAC p.? p.? 8 8 604346 416 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs779923335 yes no Frequency 1 0.000000 0 TCAC 255 Pass . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.1373_1374insTCAC:p.M458fs . . . 0.18688118 . . . 151 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 808 . . . . . . . . . . . . . . . . . . . 1.131e-04 . . . 0.0020 0.0001 0 0 0 0 0 0 0.0029 0.0001 0 0 0 0 0 0 . frameshift_insertion . . . . intronic exonic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779923335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,73 +. 9 139996541 G A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996541 139996541 Chr9(GRCh37):g.139996541G>A 1254+417 1254+417 NM_016219.4:c.1254+417G>A p.? p.? 8 8 604346 417 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 transition G A G>A 0.984 0.367 188 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.G1374A:p.M458I . . . 0.13630731 . . @ 110 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 807.0 . . . . . . . . . . 0.0326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,139,248 +rs113202004 9 139996552 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996552 139996552 Chr9(GRCh37):g.139996552C>T 1254+428 1254+428 NM_016219.4:c.1254+428C>T p.? p.? 8 8 604346 428 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139996551 6.50875 0.348926 81.9917 7.79255 0.60127 81.9917 rs113202004 yes no Frequency 1 0.000000 0 0.000215 0.000795 0.000042 0.000000 0.000091 0.000000 0.000141 0.001216 0.000455 0.001216 33 9 1 0 1 0 9 11 2 153688 11322 23750 8322 10972 22246 63638 9044 4394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 9 1 0 1 0 9 11 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.764 0.044 141 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1385T:p.A462V . . . 0.13796791 . . @ 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 935.0 . . . . . . . . . . 0.2344 . . . . . . . . 3.846e-03 . . . 0.0302 0.0054 0.0303 0 0.0294 0.0065 0 0 0.0445 0.0048 0.0364 0 0.0039 0.0063 0 0 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.49 0.21 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs113202004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.77e-05 0 0 0.0001 0 7.675e-05 0 0 0.0018 0.0013 0.0020 0 0 0.0057 0.0004 0.0030 . . . . . . . . . . . 1.0E-141 . . . . . . . . . . . . . rs73569521 rs113202004 rs113202004 1 1538 10 1/0 0,136,238 +rs200324609 9 139996589 G A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996589 139996589 Chr9(GRCh37):g.139996589G>A 1254+465 1254+465 NM_016219.4:c.1254+465G>A p.? p.? 8 8 604346 465 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs200324609 no no 0 0.000000 0 0.000035 0.000106 0.000000 0.000000 0.000000 0.000000 0.000070 0.000000 0.000000 0.000106 5 1 0 0 0 0 4 0 0 142376 9414 23114 8046 10480 21818 57122 8322 4060 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.008 -0.279 199 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.G1422A:p.R474R . . . 0.16125955 . . @ 169 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1048.0 . . . . . . . . . . 0.1179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.45 0.21 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200324609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 0.0003 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . rs200324609 rs200324609 1 1538 10 1/0 0,130,219 +rs564595892 9 139996590 C A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996590 139996590 Chr9(GRCh37):g.139996590C>A 1254+466 1254+466 NM_016219.4:c.1254+466C>A p.? p.? 8 8 604346 466 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000043 0.000070 0.000000 0.000000 0.000000 0.000044 0.000075 0.000000 0.000000 0.000075 7 1 0 0 0 1 5 0 0 162804 14246 24474 8386 11354 22538 66630 10456 4720 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.008 0.044 145 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1423A:p.R475S . . . 0.111919925 . . @ 123 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1099.0 . . . . . . . . . . 0.2086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . 0.0072 . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.489e-05 0 0 0 0 1.904e-05 0 4.437e-05 0.0001 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,125,255 +rs757586878 9 139996604 C G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996604 139996604 Chr9(GRCh37):g.139996604C>G 1254+480 1254+480 NM_016219.4:c.1254+480C>G p.? p.? 8 8 604346 480 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs757586878 yes no Frequency 1 0.000000 0 0.001131 0.001585 0.001949 0.000165 0.001010 0.001475 0.000747 0.001014 0.002914 0.001949 98 6 25 1 4 21 28 6 7 86664 3786 12824 6054 3962 14236 37484 5916 2402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 98 6 25 1 4 21 28 6 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -3.830 213 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1437G:p.C479W . . . 0.19901478 . . @ 202 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1015.0 . . . . . . . . . . -0.5988 . . . . . . . . 6.740e-04 . . . 0.004 0.0012 0.0093 0 0.0070 0.0019 0 0 0.0066 0.0011 0.0112 0 0.0016 0.0017 0 0 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs757586878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0012 0.0020 0.0002 0.0011 0.0002 0.0008 0.0033 0.0015 0.0012 0.0009 0 0 0 0.0088 0.0003 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,136,237 +rs77700193 9 139996668 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996668 139996668 Chr9(GRCh37):g.139996668T>C 1254+544 1254+544 NM_016219.4:c.1254+544T>C p.? p.? 8 8 604346 544 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs77700193 yes no Frequency 1 0.000000 0 0.000155 0.000169 0.000329 0.000000 0.000424 0.000095 0.000086 0.000230 0.000000 0.000424 22 2 7 0 4 2 5 2 0 142274 11832 21254 7908 9438 20966 58100 8698 4078 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 2 7 0 4 2 5 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.441 -3.184 170 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.T1501C:p.C501R . . . 0.10352423 . . @ 94 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 908.0 . . . . . . . . . . -0.5314 . . . . . . . . 1.151e-04 . . . 0 6.973e-05 0 0 0.0052 0 0 0 0 0.0001 0 0 0.0012 0 0 0 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.6 0.17 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs77700193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.123e-05 0.0003 0 0.0002 0 0 0 9.539e-05 0.0004 0.0006 0.0021 0 0.0019 0.0010 0.0005 0 . . . . . . . . . . . 1.0E-170 . . . . . . . . . . . . . . rs77700193 rs77700193 1 1538 10 1/0 0,131,235 +rs77466688 9 139996685 G T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996685 139996685 Chr9(GRCh37):g.139996685G>T 1254+561 1254+561 NM_016219.4:c.1254+561G>T p.? p.? 8 8 604346 561 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs77466688 no no 0 0.000000 0 0.000228 0.000538 0.000538 0.000000 0.000147 0.000051 0.000121 0.000613 0.000000 0.000613 28 5 10 0 1 1 6 5 0 122936 9290 18600 7458 6824 19506 49546 8150 3562 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 5 10 0 1 1 6 5 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.646 -2.216 194 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.G1518T:p.W506C . . . 0.1425641 . . @ 139 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 975.0 . . . . . . . . . . -0.2835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.52 0.19 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs77466688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.162e-05 0.0005 0 0 0 0 0 5.127e-05 0.0011 0.0013 0.0032 0 0.0013 0.0033 0.0010 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs77466688 rs77466688 1 1538 10 1/0 0,131,216 +. 9 139996691 ACATT A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139996695 139996698 Chr9(GRCh37):g.139996695_139996698del 1254+571 1254+574 NM_016219.4:c.1254+571_1254+574del p.? p.? 8 8 604346 571 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs869310887 no no 0 0.000000 0 0.000043 0.000000 0.000090 0.000000 0.000000 0.000000 0.000018 0.000351 0.000000 0.000351 6 0 2 0 0 0 1 3 0 139322 10758 22120 7890 9298 21460 55244 8546 4006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes TCAT 255 Pass . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.1525_2028del:p.H509fs . . . 0.16684842 . . . 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . intronic exonic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.036e-06 4.591e-05 0 0 0 0 0 0 0 0.0003 0.0029 0 0 0.0018 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,78 +rs62584505 9 139996698 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996698 139996698 Chr9(GRCh37):g.139996698T>C 1254+574 1254+574 NM_016219.4:c.1254+574T>C p.? p.? 8 8 604346 574 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs62584505 yes no Frequency 1 0.000000 0 0.000910 0.005902 0.001812 0.000737 0.000204 0.000832 0.000633 0.000308 0.000000 0.005902 47 7 16 2 1 6 14 1 0 51666 1186 8828 2712 4896 7210 22124 3244 1466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 7 16 2 1 6 14 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.819 1.577 233 PASS . . . . . . . . . . . . . . . . 0.25745857 . . @ 233 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 905.0 . . . . . . . . . . 0.2393 . . . . . . . . 9.452e-04 . . . 0.0043 0.0004 0 0 0 0.0004 0 0 0.0055 0.0004 0 0 0 0.0005 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.27 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs62584505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0006 0.0018 0.0008 0.0002 0 0.0001 0 0.0008 0.0134 0.0027 0 0 0 0.0014 0.0024 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs62584505 rs62584505 rs62584505 rs62584505 1 1538 10 1/0 0,146,219 +. 9 139996768 T TAA - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 insertion intron GRCh37 139996769 139996770 Chr9(GRCh37):g.139996769_139996770insAA 1254+645 1254+646 NM_016219.4:c.1254+645_1254+646insAA p.? p.? 8 8 604346 645 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 AA 255 Pass . . . . . . . . . . . . . . . . 0.19083156 . . . 179 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,72 +rs11145992 9 139996778 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996778 139996778 Chr9(GRCh37):g.139996778C>T 1254+654 1254+654 NM_016219.4:c.1254+654C>T p.? p.? 8 8 604346 654 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs11145992 no no 0 0.000000 0 0.005417 0.023810 0.000000 0.000000 0.004762 0.000000 0.001515 0.019324 0.004348 0.023810 44 25 0 0 1 0 9 8 1 8122 1050 102 174 210 0 5942 414 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 25 0 0 1 0 9 8 1 0 0 0 0 0 0 0 0 0 RF 170 Genomes transition C T C>T 0.937 0.528 186 PASS . . . . . . . . . . . . . . . . 0.1369248 . . @ 122 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 891.0 . . . . . . . . . . -0.4293 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.26 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs11145992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0238 0.0054 0 0 0.0048 0.0193 0.0015 0.0043 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . rs11145992 rs11145992 rs11145992 rs11145992 1 1538 13 1/0 0,140,252 +rs11145993 9 139996790 C A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996790 139996790 Chr9(GRCh37):g.139996790C>A 1254+666 1254+666 NM_016219.4:c.1254+666C>A p.? p.? 8 8 604346 666 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs11145993 no no 0 0.000000 0 0.001698 0.003890 0.000000 0.000000 0.000000 0.000000 0.000478 0.007261 0.002451 0.007261 23 11 0 0 0 0 4 7 1 13548 2828 250 208 514 0 8376 964 408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 11 0 0 0 0 4 7 1 0 0 0 0 0 0 0 0 0 RF 99 Genomes transversion C A C>A 0.732 0.286 171 PASS . . . . . . . . . . . . . . . . 0.100217864 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 918.0 . . . . . . . . . . -0.0534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.27 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs11145993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0039 0.0017 0 0 0 0.0073 0.0005 0.0025 . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . rs11145993 rs11145993 rs11145993 rs11145993 1 1538 10 1/0 0,130,255 +. 9 139997101 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997101 139997101 Chr9(GRCh37):g.139997101C>T 1254+977 1254+977 NM_016219.4:c.1254+977C>T p.? p.? 8 8 604346 977 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Donor Strongly Activated 139997099 59.1043 III.71 0.027372 71.1743 rs972554973 no no 0 0.000000 0 transition C T C>T 0.835 0.286 167 PASS . . . . . . . . . . . . . . . . 0.11784141 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 908.0 . . . . . . . . . . -0.3698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-167 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,133,244 +. 9 139997126 A T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997126 139997126 Chr9(GRCh37):g.139997126A>T 1254+1002 1254+1002 NM_016219.4:c.1254+1002A>T p.? p.? 8 8 604346 1002 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139997142 6.59941 0.339933 79.1194 8.42218 0.59525 79.1194 transversion A T A>T 0.016 -0.360 194 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 160 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1120.0 . . . . . . . . . . -0.1089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,125,213 +rs62584552 9 139997132 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997132 139997132 Chr9(GRCh37):g.139997132A>G 1254+1008 1254+1008 NM_016219.4:c.1254+1008A>G p.? p.? 8 8 604346 1008 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs62584552 no no 0 0.000000 0 0.001624 0.016216 0.000000 0.000000 0.000000 0.000000 0.000374 0.006494 0.000000 0.016216 11 6 0 0 0 0 2 3 0 6772 370 116 174 132 0 5352 462 166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 6 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 244 Genomes transition A G A>G 0.031 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.3719165 . . @ 392 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1054.0 . . . . . . . . . . -0.4018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.29 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62584552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0162 0.0016 0 0 0 0.0065 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62584552 rs62584552 rs62584552 rs62584552 1 1538 10 1/0 0,148,183 +. 9 139997133 CTG C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997135 139997136 Chr9(GRCh37):g.139997135_139997136del 1254+1011 1254+1012 NM_016219.4:c.1254+1011_1254+1012del p.? p.? 8 8 604346 1011 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs72101160 yes no Frequency/1000G 2 0.000000 0 0.000599 0.001500 0.001000 0.000000 0.000000 0.000000 0.000114 0.000148 0.000000 0.000000 0.000000 0.000000 0.000000 0.000351 0.001179 0.000351 3 1 0 0 0 0 0 1 1 26402 6766 676 282 1262 0 13718 2850 848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 RF 64 Genomes GT 255 Pass . . . . . 0.0015 0.0006 . . . 0.001 . . . . . 0.12032086 . . . 135 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 1122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs72101160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0 0.0004 0 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72101160 rs72101160 rs72101160 1 1538 10 1.I 0,5,92 +rs201348497 9 139997142 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997142 139997142 Chr9(GRCh37):g.139997142A>G 1254+1018 1254+1018 NM_016219.4:c.1254+1018A>G p.? p.? 8 8 604346 1018 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Weakly Activated 139997142 6.59941 0.339933 79.1194 VI.75 0.691137 83.0302 rs201348497 yes no Frequency 1 0.000000 0 0.001029 0.002865 0.009434 0.000000 0.006757 0.000000 0.000396 0.000000 0.006024 0.009434 7 2 1 0 1 0 2 0 1 6800 698 106 152 148 0 5054 476 166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 1 0 1 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 248 Genomes transition A G A>G 0.016 -2.054 248 PASS . . . . . . . . . . . . . . . . 0.29816514 . . @ 325 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1090.0 . . . . . . . . . . -0.5672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.3 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs201348497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0010 0.0094 0 0.0068 0 0.0004 0.0060 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . rs201348497 rs201348497 1 1538 10 1/0 0,141,191 +rs62584553 9 139997144 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997144 139997144 Chr9(GRCh37):g.139997144A>G 1254+1020 1254+1020 NM_016219.4:c.1254+1020A>G p.? p.? 8 8 604346 1020 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs62584553 no no 0 0.000000 0 0.000892 0.007874 0.000000 0.000000 0.008065 0.000000 0.000546 0.000000 0.000000 0.008065 6 2 0 0 1 0 3 0 0 6724 254 86 176 124 0 5498 426 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 1 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 257 Genomes transition A G A>G 0.016 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.43140638 . . @ 500 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1159.0 . . . . . . . . . . -0.4302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.3 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62584553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0009 0 0 0.0081 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62584553 rs62584553 rs62584553 rs62584553 1 1538 10 1/0 0,148,173 +. 9 139997147 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997147 139997147 Chr9(GRCh37):g.139997147C>T 1254+1023 1254+1023 NM_016219.4:c.1254+1023C>T p.? p.? 8 8 604346 1023 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Donor Strongly Activated 139997145 77.2407 4.94431 0.45272 77.3044 transition C T C>T 0.024 -0.440 175 PASS . . . . . . . . . . . . . . . . 0.11128776 . . @ 140 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1258.0 . . . . . . . . . . -0.0387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 13 1/0 0,118,241 +rs35757228 9 139997157 C G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997157 139997157 Chr9(GRCh37):g.139997157C>G 1254+1033 1254+1033 NM_016219.4:c.1254+1033C>G p.? p.? 8 8 604346 1033 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs35757228 no no 0 0.000000 0 0.004489 0.037267 0.045455 0.000000 0.000000 0.000000 0.001291 0.013089 0.000000 0.045455 26 12 3 0 0 0 6 5 0 5792 322 66 144 94 0 4646 382 138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 12 3 0 0 0 6 5 0 0 0 0 0 0 0 0 0 0 RF 313 Genomes transversion C G C>G 0.315 -2.054 220 PASS . . . . . . . . . . . . . . . . 0.36027876 . . @ 517 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1435.0 . . . . . . . . . . -0.5289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.29 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs35757228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0373 0.0045 0.0455 0 0 0.0131 0.0013 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs35757228 rs35757228 rs35757228 rs35757228 1 1538 10 1/0 0,138,170 +. 9 139997160 T G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997160 139997160 Chr9(GRCh37):g.139997160T>G 1254+1036 1254+1036 NM_016219.4:c.1254+1036T>G p.? p.? 8 8 604346 1036 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 New Donor Site 139997159 2.73736 0.115205 62.7735 transversion T G T>G 0.283 -0.763 175 PASS . . . . . . . . . . . . . . . . 0.10176125 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1533.0 . . . . . . . . . . -0.1712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,108,234 +. 9 139997167 CATTCATG C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997168 139997174 Chr9(GRCh37):g.139997168_139997174del 1254+1044 1254+1050 NM_016219.4:c.1254+1044_1254+1050del p.? p.? 8 8 604346 1044 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 ATTCATG 255 Pass . . . . . . . . . . . . . . . . 0.27226463 . . . 428 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 1572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,57 +rs112103306 9 139997209 C A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997209 139997209 Chr9(GRCh37):g.139997209C>A 1254+1085 1254+1085 NM_016219.4:c.1254+1085C>A p.? p.? 8 8 604346 1085 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs112103306 no no 0 0.000000 0 0.001433 0.007788 0.000000 0.005263 0.008621 0.000000 0.000588 0.001220 0.000000 0.008621 13 5 0 1 2 0 4 1 0 9072 642 156 190 232 0 6798 820 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 5 0 1 2 0 4 1 0 0 0 0 0 0 0 0 0 0 RF 299 Genomes transversion C A C>A 0.000 0.125 167 PASS . . . . . . . . . . . . . . . . 0.14989817 . . @ 368 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 2455.0 . . . . . . . . . . -0.1035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.29 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs112103306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0078 0.0014 0 0.0053 0.0086 0.0012 0.0006 0 . . . . . . . . . . . 1.0E-167 . . . . . . . . . . . . . . rs112103306 rs112103306 1 1538 10 1/0 0,94,183 +. 9 139997212 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997212 139997212 Chr9(GRCh37):g.139997212A>G 1254+1088 1254+1088 NM_016219.4:c.1254+1088A>G p.? p.? 8 8 604346 1088 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9594 898 190 182 230 0 6856 918 320 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 283 Genomes transition A G A>G 0.000 -1.974 159 PASS . . . . . . . . . . . . . . . . 0.115137614 . . @ 251 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 2180.0 . . . . . . . . . . -0.4800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,95,208 +. 9 139997213 C CTG - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 insertion intron GRCh37 139997214 139997215 Chr9(GRCh37):g.139997214_139997215insGT 1254+1090 1254+1091 NM_016219.4:c.1254+1090_1254+1091insGT p.? p.? 8 8 604346 1090 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs866925107 no no 0 0.000000 0 0.000724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000328 0.006329 0.000000 0.006329 6 0 0 0 0 0 2 4 0 8284 704 142 188 306 0 6094 632 218 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 2 4 0 0 0 0 0 0 0 0 0 0 RF 327 Genomes GT 255 Pass . . . . . . . . . . . . . . . . 0.14471544 . . . 356 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0 0 0 0.0063 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs66976915 rs66976915 rs66976915 1 1538 10 1.I 0,6,84 +rs750296036 9 139997344 G A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997344 139997344 Chr9(GRCh37):g.139997344G>A 1254+1220 1254+1220 NM_016219.4:c.1254+1220G>A p.? p.? 8 8 604346 1220 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs750296036 no no 0 0.000000 0 0.000746 0.001786 0.000000 0.000000 0.000000 0.000000 0.000605 0.000797 0.000000 0.001786 10 4 0 0 0 0 5 1 0 13396 2240 308 190 696 0 8268 1254 440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 4 0 0 0 0 5 1 0 0 0 0 0 0 0 0 0 0 RF 148 Genomes transition G A G>A 0.126 -0.763 192 PASS . . . . . . . . . . . . . . . . 0.14516129 . . @ 243 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1674.0 . . . . . . . . . . -0.1854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs750296036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0007 0 0 0 0.0008 0.0006 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,109,217 +. 9 139997351 TCAG T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997352 139997354 Chr9(GRCh37):g.139997352_139997354del 1254+1228 1254+1230 NM_016219.4:c.1254+1228_1254+1230del p.? p.? 8 8 604346 1228 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000337 0.000466 0.000000 0.000000 0.000000 0.000000 0.000321 0.000000 0.001374 0.000466 8 3 0 0 0 0 4 0 1 23716 6442 562 230 1180 0 12456 2118 728 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 3 0 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 RF 81 Genomes CAG 255 Pass . . . . . . . . . . . . . . . . 0.123934425 . . . 189 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 1525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0003 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,91 +. 9 139997360 TTACAC T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997361 139997365 Chr9(GRCh37):g.139997361_139997365del 1254+1237 1254+1241 NM_016219.4:c.1254+1237_1254+1241del p.? p.? 8 8 604346 1237 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24702 6966 626 214 1278 0 12438 2400 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 75 Genomes TACAC 255 Pass . . . . . . . . . . . . . . . . 0.47501582 . . . 751 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 1581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,32 +. 9 139997402 T G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997402 139997402 Chr9(GRCh37):g.139997402T>G 1254+1278 1254+1278 NM_016219.4:c.1254+1278T>G p.? p.? 8 8 604346 1278 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 transversion T G T>G 0.961 -0.117 198 PASS . . . . . . . . . . . . . . . . 0.15167683 . . @ 199 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1312.0 . . . . . . . . . . 0.0283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,120,219 +rs550035288 9 139997415 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997415 139997415 Chr9(GRCh37):g.139997415C>T 1254+1291 1254+1291 NM_016219.4:c.1254+1291C>T p.? p.? 8 8 604346 1291 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs550035288 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.000000 0.002900 0.000235 0.000888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002874 0.000888 3 2 0 0 0 0 0 0 1 12766 2252 222 240 726 0 8004 974 348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 135 Genomes transition C T C>T 0.031 0.125 202 PASS . . . . . . 0.0006 0.0029 . . 0.001 . . . . . 0.1612628 . . @ 189 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1172.0 . . . . . . . . . . -0.6052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs550035288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0002 0 0 0 0 0 0.0029 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,126,218 +rs201278795 9 139997687 G C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997687 139997687 Chr9(GRCh37):g.139997687G>C 1254+1563 1254+1563 NM_016219.4:c.1254+1563G>C p.? p.? 8 8 604346 1563 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139997696 6.09035 0.275048 84.6513 6.89263 0.483117 87.3922 rs201278795 yes no Frequency 1 0.000000 0 0.002272 0.007331 0.000000 0.000000 0.000000 0.000000 0.001151 0.006173 0.000000 0.007331 21 10 0 0 0 0 7 4 0 9242 1364 166 138 596 0 6082 648 248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 10 0 0 0 0 7 4 0 0 0 0 0 0 0 0 0 0 RF 143 Genomes transversion G C G>C 0.157 -1.409 228 PASS . . . . . . . . . . . . . . . . 0.24404761 . . @ 164 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 672.0 . . . . . . . . . . -0.2599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.3 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs201278795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0073 0.0023 0 0 0 0.0062 0.0012 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . rs201278795 rs201278795 1 1538 10 1/0 0,158,239 +. 9 139997706 C CGGT - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 duplication intron GRCh37 139997710 139997711 Chr9(GRCh37):g.139997708_139997710dup 1254+1584 1254+1586 NM_016219.4:c.1254+1584_1254+1586dup p.? p.? 8 8 604346 1586 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16672 3524 364 242 878 0 9776 1372 516 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 77 Genomes GTG 255 Pass . . . . . . . . . . . . . . . . 0.20221607 . . . 146 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,69 +. 9 139997716 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997716 139997716 Chr9(GRCh37):g.139997716C>T 1254+1592 1254+1592 NM_016219.4:c.1254+1592C>T p.? p.? 8 8 604346 1592 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs956438953 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14552 2574 300 268 750 0 9110 1092 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 95 Genomes transition C T C>T 0.992 1.013 192 PASS . . . . . . . . . . . . . . . . 0.13868614 . . @ 95 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 685.0 . . . . . . . . . . 0.1383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . 20 0.000307806 64976 20 0.000333411 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,147,252 +. 9 139997717 A T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997717 139997717 Chr9(GRCh37):g.139997717A>T 1254+1593 1254+1593 NM_016219.4:c.1254+1593A>T p.? p.? 8 8 604346 1593 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139997731 7.08689 0.087811 81.9917 7.95558 0.294222 87.3922 rs989251332 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12072 1888 260 240 660 0 7840 842 342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 115 Genomes transversion A T A>T 0.992 0.851 198 PASS . . . . . . . . . . . . . . . . 0.15277778 . . @ 110 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 720.0 . . . . . . . . . . 0.1666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . 24 0.000369367 64976 24 0.000400093 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,255 +. 9 139997720 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997720 139997720 Chr9(GRCh37):g.139997720T>C 1254+1596 1254+1596 NM_016219.4:c.1254+1596T>C p.? p.? 8 8 604346 1596 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 transition T C T>C 0.976 0.205 212 PASS . . . . . . . . . . . . . . . . 0.1874106 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 699.0 . . . . . . . . . . 0.1757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,151,246 +. 9 139997750 ATT A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997751 139997752 Chr9(GRCh37):g.139997751_139997752del 1254+1627 1254+1628 NM_016219.4:c.1254+1627_1254+1628del p.? p.? 8 8 604346 1627 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs34635386 no no 0 0.000000 0 TT 255 Pass . . . . . . . . . . . . . . . . 0.33171913 . . . 274 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34635386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72469431 . . 1 1538 10 1.I 0,11,48 +rs74649125 9 139997791 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997791 139997791 Chr9(GRCh37):g.139997791T>C 1254+1667 1254+1667 NM_016219.4:c.1254+1667T>C p.? p.? 8 8 604346 1667 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs74649125 yes no Frequency/1000G 2 0.000000 0 0.001198 0.002300 0.002000 0.001000 0.000000 0.000000 0.000765 0.010730 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.010730 5 5 0 0 0 0 0 0 0 6532 466 108 134 246 0 4958 462 158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 240 Genomes transition T C T>C 0.024 0.125 255 PASS . . . . . 0.0023 0.0012 . 0.001 . 0.002 . . . . . 0.372 . . @ 279 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 750.0 . . . . . . . . . . -0.3048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.58 0.21 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74649125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0107 0.0008 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74649125 rs74649125 1 1538 10 1/0 0,167,220 +rs769002081 9 140318088 C T - EXD3 26023 Exonuclease 3'-5' domain containing 3 NM_017820.4 -1 2883 2631 NP_060290.3 Q8N9H8 substitution upstream GRCh37 140318088 140318088 Chr9(GRCh37):g.140318088C>T -570 -570 NM_017820.4:c.-570G>A p.? p.? 1 -523 5' 89.8591 9.60237 0.96283 16.1481 89.8591 9.60237 0.96283 16.1481 0 rs769002081 yes no Frequency 1 C 0.000000 0 0.000201 0.000000 0.000061 0.000561 0.000000 0.000000 0.000332 0.000224 0.000000 0.000561 24 0 1 4 0 0 17 2 0 119486 10338 16276 7124 4592 17710 51204 8916 3326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 0 1 4 0 0 17 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.472 0.044 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.461 . @ . . . . . 1 0.295 . . 48.0 . . . . . . . . . . -0.5635 -0.691 -0.564 c . . . . . 1.225e-04 . . . 0 0 0 0 0 0 0 0 0 0.0001 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000188747 NOXA1 NOXA1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.358 . . . . D 0.861 0.189 . . 37 . 0.388 . . 0.486 . . . 0.552 0.330 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.571 . . 0.485 . . . . . . 0 0.342 . . . . . 0.072 . 0.323 . HET 0 rs769002081 . . . . . . . . . . . . III.31 0.0 . IV.31 0.185 . 0.000000 . . . . . . 0.210 . . . 0 0.0002 6.446e-05 0.0006 0 0.0003 0.0003 0 0 0 0.0002 0 0 0 0 0.0003 0 . . 0.088 . -0.267 -0.267000 . . 0.000000 . . 1.0E-255 0.009 0.180 . 0.132 0.051 . 0.202 . 0.123 -0.267 0.849 . . . . . 1 1538 10 1/0 0,255,255 +rs769002081 9 140318088 C T - NOXA1 10668 NADPH oxidase activator 1 NM_006647.1 1 1633 1452 NP_006638.1 substitution missense exon GRCh37 140318088 140318088 Chr9(GRCh37):g.140318088C>T 107 107 NM_006647.1:c.107C>T p.Pro36Leu p.Pro36Leu 1 611255 -71 5' 80.8983 8.18959 0.609806 14.2614 80.8983 8.18959 0.609806 14.1117 0 Cryptic Acceptor Weakly Activated 140318098 4.21518 0.23004 71.185 4.33864 0.278437 74.4677 rs769002081 yes no Frequency 1 C 0.000000 0 0.000201 0.000000 0.000061 0.000561 0.000000 0.000000 0.000332 0.000224 0.000000 0.000561 24 0 1 4 0 0 17 2 0 119486 10338 16276 7124 4592 17710 51204 8916 3326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 0 1 4 0 0 17 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.472 0.044 P Pro CCG 0.115 L Leu CTG 0.404 36 12 9 Frog -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0.03 3.VII bad 6.567E-3 0.02726 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.461 . @ . . . . . 1 0.295 . . 48.0 . . . . . . . . . . -0.5635 -0.691 -0.564 c . . . . . 1.225e-04 . . . 0 0 0 0 0 0 0 0 0 0.0001 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000188747 NOXA1 NOXA1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.358 . . . . D 0.861 0.189 . . 37 . 0.388 . . 0.486 . . . 0.552 0.330 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.571 . . 0.485 . . . . . . 0 0.342 . . . . . 0.072 . 0.323 . HET 0 rs769002081 . . . . . . . . . . . . III.31 0.0 . IV.31 0.185 . 0.000000 . . . . . . 0.210 . . . 0 0.0002 6.446e-05 0.0006 0 0.0003 0.0003 0 0 0 0.0002 0 0 0 0 0.0003 0 . . 0.088 . -0.267 -0.267000 . . 0.000000 . . 1.0E-255 0.009 0.180 . 0.132 0.051 . 0.202 . 0.123 -0.267 0.849 . . . . . 1 1538 10 1/0 0,255,255 +rs41302689 9 140605372 C T - EHMT1 24650 Euchromatic histone lysine methyltransferase 1 NM_024757.4 1 5108 3897 NP_079033.4 Q9H9B1 substitution intron GRCh37 140605372 140605372 Chr9(GRCh37):g.140605372C>T 22-47 22-47 NM_024757.4:c.22-47C>T p.? p.? 2 1 607001 -47 3' 93.0817 12.1636 0.977693 VIII.03 93.0817 12.1636 0.977693 VIII.15 0 rs41302689 yes no Frequency/1000G 2 C 0.000000 0 0.003195 0.000000 0.000000 0.001000 0.014900 0.000000 0.006759 0.002980 0.003686 0.003231 0.000224 0.002134 0.012282 0.002093 0.008077 0.012282 1325 52 95 28 3 50 1015 41 41 196038 17450 25770 8666 13412 23432 82642 19590 5076 0.000041 0.000000 0.000078 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 4 0 1 0 0 0 3 0 0 1317 52 93 28 3 50 1009 41 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7034 3117 10151 88 11 99 0.0123561 0.00351662 0.00965854 0.0123561 0.00351662 0.00965854 8 transition C T C>T 0.000 -0.360 255 PASS . 0.01 . 0.0017 0.01 . 0.0032 . 0.001 0.015 . . . . . . 0.4563107 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.0035 0.0097 0.012 0.0035 0.0097 0.012 . -0.3060 . . . . . . . . 4.960e-03 . . . 0.0040 0.0071 0.0044 0 0.0038 0.0129 0.0174 0.0018 0.0034 0.0066 0.0041 0 0.0036 0.0121 0.0158 0.0018 . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.34 0.08 182 ENSG00000181090 EHMT1 EHMT1 . . . . . . 591 0.00909567 64976 575 0.00958557 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41302689 . . . . . . . . . . . . . . . . . . . . . . . 0.009659 . . . . . 0.0024 0.0066 0.0036 0.0032 0.0003 0.0019 0.0123 0.0073 0.0021 0.0036 0.0077 0.0048 0.0033 0 0.0032 0.0121 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 rs41302689 rs41302689 rs41302689 rs41302689 1 1538 10 1/0 0,255,255 +. 9 141069129 G A - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069129 141069129 Chr9(GRCh37):g.141069129G>A 828 828 NR_027156.1:n.828G>A 2 -196 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.85146 0 transition G A G>A 0.055 0.205 226 PASS . . . . . . . . . . . . . . . . 0.23529412 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R276|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.2700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . . . . ENSG00000159247 TUBBP5 TUBBP5 . uc010ncq.3:c.-13G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201567226 9 141069139 C A - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069139 141069139 Chr9(GRCh37):g.141069139C>A 838 838 NR_027156.1:n.838C>A 2 -186 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.85146 0 rs201567226 yes no Frequency 1 0.000000 0 transversion C A C>A 0.004 -1.167 209 PASS . . . . . . . . . . . . . . . . 0.29268292 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H280N|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.6821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . 0.28 0.06 182 ENSG00000159247 TUBBP5 TUBBP5 . uc010ncq.3:c.-3C>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201567226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs201567226 rs201567226 1 1538 10 1/0 0,255,255 +. 9 141069147 A T - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069147 141069147 Chr9(GRCh37):g.141069147A>T 846 846 NR_027156.1:n.846A>T 2 -178 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.85146 0 transversion A T A>T 0.031 0.125 233 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.A6T:p.E2D . . . 0.25641027 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 39.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E282D|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.3482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 141069224 G T - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069224 141069224 Chr9(GRCh37):g.141069224G>T 923 923 NR_027156.1:n.923G>T 2 -101 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.85146 0 transversion G T G>T 0.024 0.205 176 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.G83T:p.W28L . . . 0.10638298 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tTg|W308L|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.2130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs77616863 9 141069245 G C - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069245 141069245 Chr9(GRCh37):g.141069245G>C 944 944 NR_027156.1:n.944G>C 2 -80 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.81029 0 rs77616863 no no 0 0.000000 0 transversion G C G>C 0.043 -1.167 255 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.G104C:p.S35T . . . 0.36585367 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aCc|S315T|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.6792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.05 182 ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200723736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77616863 rs200723736 1 1538 10 1/0 0,255,255 +rs377477518 9 141069266 G A - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069266 141069266 Chr9(GRCh37):g.141069266G>A 965 965 NR_027156.1:n.965G>A 2 -59 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 7.16254 0 rs377477518 yes no Frequency 1 0.000000 0 0.000139 0.000000 0.000042 0.000248 0.000101 0.000266 0.000100 0.000000 0.000831 0.000266 18 0 1 2 1 6 5 0 3 129638 6222 23746 8062 9920 22534 50088 5456 3610 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 0 1 2 1 6 5 0 3 0 0 0 0 0 0 0 0 0 RF 71 Exomes transition G A G>A 0.043 -1.167 242 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.G125A:p.R42K . . . 0.2857143 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R322K|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.6552 . . . . . . . . 3.890e-04 . . . 0 0.0006 0 0 0 0.0006 0 0.0007 0 0.0006 0 0 0 0.0008 0 0.0007 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377477518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 4.211e-05 0.0002 0.0001 0 9.982e-05 0.0008 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . rs377477518 rs377477518 1 1538 10 1/0 0,255,255 +rs191924691 9 141069289 T C - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069289 141069289 Chr9(GRCh37):g.141069289T>C 988 988 NR_027156.1:n.988T>C 2 -36 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 7.30702 0 rs191924691 yes no Frequency 1 0.000000 0 0.001735 0.015199 0.000166 0.000122 0.000174 0.000404 0.000792 0.002295 0.001136 0.015199 267 176 4 1 2 9 50 20 5 153934 11580 24120 8174 11520 22280 63142 8716 4402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 267 176 4 1 2 9 50 20 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -1.247 241 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.T148C:p.F50L . . . 0.2857143 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Ctc|F330L|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.6802 . . . . . . . . 1.468e-03 . . . 0.0035 0.0021 0.0052 0 0 0.0027 0 0.0016 0 0.0017 0 0 0 0.0023 0 0.0016 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.1 182 ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191924691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 4.268e-05 0.0001 0.0001 0.0002 0.0003 0.0011 0.0004 0.0325 0.0094 0.0043 0 0.0006 0.0065 0.0027 0.0012 . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . rs76123159 rs191924691 1 1538 10 1/0 0,255,255 +. (chr9:141111399 A/T) 9 141111399 A T Not on a known gene +rs200438923 10 95196 G A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95196 95196 Chr10(GRCh37):g.95196G>A -18 -18 NM_177987.2:c.-18C>T p.? p.? 1 616768 -75 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.50308 0 rs200438923 yes no Frequency 1 G 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000025 0.000000 0.000000 0.000025 2 0 0 0 0 0 2 0 0 188862 10592 27790 8786 13236 25404 80678 17904 4472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 54 Exomes transition C T C>T 0.016 0.205 207 PASS . . . . . . . . . . . . . . . . 0.17948718 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.4331 . . . . . . . . 7.986e-06 . . . 0 3.17e-05 0 0 0 6.823e-05 0 0 0 3.224e-05 0 0 0 7.281e-05 0 0 . . . . . . UTR5 upstream upstream . . . @ . . . 0.51 0.33 182 ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.059e-05 0 0 0 0 2.479e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs200438923 rs200438923 1 1538 10 1/0 0,244,255 +rs116058315 10 95197 A G - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95197 95197 Chr10(GRCh37):g.95197A>G -19 -19 NM_177987.2:c.-19T>C p.? p.? 1 616768 -76 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.78878 0 rs116058315 yes no Frequency/1000G 2 A 0.000000 0 0.002001 0.001009 0.002616 0.004622 0.000069 0.001194 0.002387 0.000861 0.004682 0.004622 431 19 73 41 1 30 224 18 25 215348 18832 27908 8870 14522 25122 93850 20904 5340 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000021 0.000000 0.000000 1 0 0 0 0 0 1 0 0 429 19 73 41 1 30 222 18 25 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.016 0.448 207 PASS . . . . . . . . . . . . . . . . 0.17721519 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.7345 . . . . . . . . 1.294e-03 . . . 0.0037 0.0034 0.0041 0.0022 0.0087 0.0039 0 0.0025 0.0037 0.0033 0.0034 0.0043 0.0029 0.0036 0.0045 0.0025 . . . . . . UTR5 upstream upstream . . . @ . . . 0.44 0.31 182 ENSG00000173876 TUBB8 TUBB8 . . . . . . 94 0.00144669 64976 90 0.00150035 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0018 0.0026 0.0044 7.74e-05 0.0007 0.0020 0.0048 0.0012 0.0009 0.0029 0.0037 0.01 0 0.0015 0.0045 0.0042 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs116058315 rs116058315 1 1538 10 1/0 0,243,255 +rs558290342 10 95212 T C - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95212 95212 Chr10(GRCh37):g.95212T>C -34 -34 NM_177987.2:c.-34A>G p.? p.? 1 616768 -91 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs558290342 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.000800 0.004100 0.000000 0.004000 0.002900 0.001788 0.000544 0.002174 0.004208 0.000143 0.001221 0.002231 0.000730 0.003792 0.004208 371 10 59 37 2 30 198 15 20 207472 18386 27140 8792 13974 24580 88764 20562 5274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 371 10 59 37 2 30 198 15 20 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.086 218 PASS . . . . . 0.0008 0.0022 0.0029 . 0.004 0.0041 . . . . . 0.20779221 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 77.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.6728 . . . . . . . . 4.841e-04 . . . 0.0003 0.0011 0.0005 0 0 0.0017 0 0.0008 0 0.0007 0.0006 0 0.0007 0.0008 0 0.0008 . . . . . . UTR5 upstream upstream . . . 0.0022 . . . . . . ENSG00000173876 TUBB8 TUBB8 ENST00000309812:c.-34A>G . . . . . 93 0.0014313 64976 90 0.00150035 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0016 0.0021 0.0040 0.0002 0.0005 0.0018 0.0037 0.0012 0.0006 0.0029 0.0036 0.0099 0 0.0021 0.0045 0.0041 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 10 95215 G A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95215 95215 Chr10(GRCh37):g.95215G>A -37 -37 NM_177987.2:c.-37C>T p.? p.? 1 616768 -94 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 175864 9646 26254 8560 12256 24506 73196 17150 4296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 54 Exomes transition C T C>T 0.000 1.013 176 PASS . . . . . . . . . . . . . . . . 0.10465116 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 86.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 ENST00000309812:c.-37C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +. 10 95232 G T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95232 95232 Chr10(GRCh37):g.95232G>T -54 -54 NM_177987.2:c.-54C>A p.? p.? 1 616768 -111 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transversion C A C>A 0.000 -1.328 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.5422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 ENST00000309812:c.-54C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs186208482 10 95237 G T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95237 95237 Chr10(GRCh37):g.95237G>T -59 -59 NM_177987.2:c.-59C>A p.? p.? 1 616768 -116 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs186208482 no no 0 G 0.000000 0 0.000033 0.000116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000116 1 1 0 0 0 0 0 0 0 30468 8612 820 302 1590 0 14792 3384 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion C A C>A 0.024 0.770 237 PASS . . . . . . . . . . . . . . . . 0.2658228 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . @ . . . 0.57 0.4 182 ENSG00000173876 TUBB8 TUBB8 ENST00000309812:c.-59C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.282e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.022 . . rs186208482 rs186208482 1 1538 10 1/0 0,251,255 +. 10 95244 C T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95244 95244 Chr10(GRCh37):g.95244C>T -66 -66 NM_177987.2:c.-66G>A p.? p.? 1 616768 -123 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transition G A G>A 0.307 -0.117 196 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 80.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs797032475 10 95247 G A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95247 95247 Chr10(GRCh37):g.95247G>A -69 -69 NM_177987.2:c.-69C>T p.? p.? 1 616768 -126 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 Cryptic Donor Strongly Activated 95249 58.8118 IV.63 0.005432 70.511 rs797032475 no no 0 G 0.000000 0 transition C T C>T 0.425 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14084508 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 71.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.4519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs797035342 10 95249 C A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95249 95249 Chr10(GRCh37):g.95249C>A -71 -71 NM_177987.2:c.-71G>T p.? p.? 1 616768 -128 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs797035342 no no 0 C 0.000000 0 transversion G T G>T 0.551 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs797027426 10 95254 G A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95254 95254 Chr10(GRCh37):g.95254G>A -76 -76 NM_177987.2:c.-76C>T p.? p.? 1 616768 -133 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs797027426 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30520 8624 828 302 1596 0 14836 3372 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition C T C>T 0.787 1.093 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.4019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . 0.022 . . . . 1 1538 10 1/0 0,242,255 +rs797030319 10 95258 A C - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95258 95258 Chr10(GRCh37):g.95258A>C -80 -80 NM_177987.2:c.-80T>G p.? p.? 1 616768 -137 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs797030319 no no 0 A 0.000000 0 transversion T G T>G 0.780 0.851 178 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,240,255 +rs797043957 10 95263 T G - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95263 95263 Chr10(GRCh37):g.95263T>G -85 -85 NM_177987.2:c.-85A>C p.? p.? 1 616768 -142 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs797043957 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30468 8598 830 302 1592 0 14794 3388 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes transversion A C A>C 0.346 -1.409 239 PASS . . . . . . . . . . . . . . . . 0.27272728 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 77.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.7583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 10 95269 G T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95269 95269 Chr10(GRCh37):g.95269G>T -91 -91 NM_177987.2:c.-91C>A p.? p.? 1 616768 -148 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transversion C A C>A 0.409 1.093 206 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 10 95273 C T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95273 95273 Chr10(GRCh37):g.95273C>T -95 -95 NM_177987.2:c.-95G>A p.? p.? 1 616768 -152 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transition G A G>A 0.504 1.093 112 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-112 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 10 95274 G T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95274 95274 Chr10(GRCh37):g.95274G>T -96 -96 NM_177987.2:c.-96C>A p.? p.? 1 616768 -153 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transversion C A C>A 0.512 -0.117 197 PASS . . . . . . . . . . . . . . . . 0.15277778 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs74113794 10 95289 C A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95289 95289 Chr10(GRCh37):g.95289C>A -111 -111 NM_177987.2:c.-111G>T p.? p.? 1 616768 -168 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs74113794 no no 0 T 0.000000 0 0.000297 0.000816 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000816 9 7 0 0 0 0 2 0 0 30314 8580 824 302 1592 0 14824 3234 958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 7 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion G T G>T 0.598 -1.651 241 PASS . . . . . . . . . . . . . . . . 0.27868852 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 61.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.8514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . 0.6 0.4 182 ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0003 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . rs74113794 rs74113794 rs74113794 1 1538 10 1/0 0,255,255 +. 10 332385 AAG A - DIP2C 29150 DIP2 disco-interacting protein 2 homolog C (Drosophila) NM_014974.2 -1 7896 4671 NP_055789.1 Q9Y2E4 deletion intron GRCh37 332386 332387 Chr10(GRCh37):g.332386_332387del 4045-100 4045-99 NM_014974.2:c.4045-100_4045-99del p.? p.? 34 33 611380 -99 3' 71.8721 9.0645 0.908939 6.95935 71.8721 9.0645 0.908939 6.95935 0 Cryptic Acceptor Weakly Activated 332388 VII.67 0.062637 81.0172 7.87798 0.32228 81.0172 rs540060840 yes no Frequency/1000G 2 0.000000 0 0.007987 0.000800 0.022500 0.000000 0.006000 0.015900 0.006811 0.002635 0.005967 0.000000 0.000000 0.000000 0.009924 0.006014 0.013238 0.009924 211 23 5 0 0 0 149 21 13 30980 8730 838 302 1622 0 15014 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 211 23 5 0 0 0 149 21 13 0 0 0 0 0 0 0 0 0 PASS 42 Genomes CT 255 Pass . . . . . 0.0008 0.008 0.016 . 0.006 0.022 . . . . . 0.65625 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000151240 DIP2C DIP2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35865276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0068 0.0060 0 0 0.0060 0.0099 0.0132 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,18 +rs147132395 10 1088647 C G - IDI1 5387 Isopentenyl-diphosphate delta isomerase 1 NM_004508.3 -1 2986 855 NP_004499.2 substitution missense exon GRCh37 1088647 1088647 Chr10(GRCh37):g.1088647C>G 462 462 NM_004508.3:c.462G>C p.Glu154Asp p.Glu154Asp 4 604055 56 3' 91.2413 8.12059 0.95947 5.74184 91.2413 8.12059 0.95947 6.36713 0 Isopentenyl-diphosphate delta-isomerase, type 1 NUDIX hydrolase domain NUDIX hydrolase domain-like rs147132395 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000115 0.000083 0.000203 0.000000 0.000000 0.000000 0.000181 0.000000 0.000000 0.000203 32 2 7 0 0 0 23 0 0 277246 24036 34420 10152 18870 30782 126730 25790 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 2 7 0 0 0 23 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 102 transversion G C G>C 1.000 0.528 E Glu GAG 0.583 D Asp GAC 0.539 154 13 10 Zebrafish 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 114.13 0.00 Tolerated 0.38 3.X 255 PASS . . . . . 0.0008 0.0002 . . . . . . IDI1:NM_004508:exon4:c.G462C:p.E154D . . 0.5813953 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.163 . @ . . . . . 1 0.080 . . 43.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.7685 -0.749 -0.769 c . . . . . 9.471e-05 . . . 9.628e-05 0.0001 8.646e-05 0 0 0.0002 0 0 0.0001 0.0001 8.916e-05 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.105 . . exonic exonic exonic . . 0.107 0.0002 . . . 0.3 0.14 182 ENSG00000067064 IDI1 IDI1 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.165 0.006 . . 37 . 0.064 . . 0.379 . . . 0.410 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.491 . . 0 0 0 0 0 0 . 0.202 . . 0.223 . . . . . . 4 0.248 . . . . . 0.144 . 0.291 . HET 0.11 rs147132395 . . . . . . . . . . . . 5.1804 0.0 . 4.V -0.691 . 0.420000 Q13907-2 . . . 0.000077 . 0.417 . . . 6.534e-05 0.0001 0.0002 0 0 0 0.0002 0 0 0.0001 6.457e-05 0 0 0 0 6.662e-05 0 . . 0.522 . -0.079 -0.079000 . . 0.420000 . . 1.0E-255 1.000 0.715 . 0.151 0.037 . 0.282 . 0.131 -0.079 -0.379 0.0001 . . rs147132395 rs147132395 1 1538 10 1/0 0,255,255 +rs147132395 10 1088647 C G - IDI2-AS1 30885 IDI2 antisense RNA 1 NR_027709.1 1 1305 0 substitution intron GRCh37 1088647 1088647 Chr10(GRCh37):g.1088647C>G 633-822 633-822 NR_027709.1:n.633-822C>G p.? p.? 5 4 615391 -822 3' 61.7765 2.93706 0.008619 0 61.7765 2.93706 0.008619 0 0 rs147132395 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000115 0.000083 0.000203 0.000000 0.000000 0.000000 0.000181 0.000000 0.000000 0.000203 32 2 7 0 0 0 23 0 0 277246 24036 34420 10152 18870 30782 126730 25790 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 2 7 0 0 0 23 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 102 transversion C G C>G 1.000 0.528 255 PASS . . . . . 0.0008 0.0002 . . . . . . IDI1:NM_004508:exon4:c.G462C:p.E154D . . 0.5813953 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.163 . @ . . . . . 1 0.080 . . 43.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.7685 -0.749 -0.769 c . . . . . 9.471e-05 . . . 9.628e-05 0.0001 8.646e-05 0 0 0.0002 0 0 0.0001 0.0001 8.916e-05 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.105 . . exonic exonic exonic . . 0.107 0.0002 . . . 0.3 0.14 182 ENSG00000067064 IDI1 IDI1 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.165 0.006 . . 37 . 0.064 . . 0.379 . . . 0.410 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.491 . . 0 0 0 0 0 0 . 0.202 . . 0.223 . . . . . . 4 0.248 . . . . . 0.144 . 0.291 . HET 0.11 rs147132395 . . . . . . . . . . . . 5.1804 0.0 . 4.V -0.691 . 0.420000 Q13907-2 . . . 0.000077 . 0.417 . . . 6.534e-05 0.0001 0.0002 0 0 0 0.0002 0 0 0.0001 6.457e-05 0 0 0 0 6.662e-05 0 . . 0.522 . -0.079 -0.079000 . . 0.420000 . . 1.0E-255 1.000 0.715 . 0.151 0.037 . 0.282 . 0.131 -0.079 -0.379 0.0001 . . rs147132395 rs147132395 1 1538 10 1/0 0,255,255 +. 10 4877825 TTTTG T - AKR1E2 23437 Aldo-keto reductase family 1, member E2 NM_001040177.2 1 1643 963 NP_001035267.1 Q96JD6 deletion intron GRCh37 4877829 4877832 Chr10(GRCh37):g.4877829_4877832del 325-38 325-35 NM_001040177.2:c.325-38_325-35del p.? p.? 4 3 617451 -35 3' 83.8865 8.41044 0.967117 XI.51 83.8865 8.41044 0.967117 X.65 0 rs558981280 no no 0 0.000000 0 7936 4221 12157 318 43 361 0.0385268 0.0100844 0.0288385 0.0385268 0.0100844 0.0288385 34 GTTT 255 Pass . . . . . . . . . . . . . . . . 0.39583334 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . 0.01 0.029 0.039 0.01 0.029 0.038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000165568 AKR1E2 AKR1E2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558981280 . . . . . . . . . . . . . . . . . . . . . . . 0.028994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.039 . . . . 1 1538 10 1.I 0,12,40 +rs75589167 10 4877834 G T - AKR1E2 23437 Aldo-keto reductase family 1, member E2 NM_001040177.2 1 1643 963 NP_001035267.1 Q96JD6 substitution intron GRCh37 4877834 4877834 Chr10(GRCh37):g.4877834G>T 325-33 325-33 NM_001040177.2:c.325-33G>T p.? p.? 4 3 617451 -33 3' 83.8865 8.41044 0.967117 XI.51 83.8865 8.41044 0.967117 11.1567 0 rs75589167 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.005300 0.000000 0.000000 0.000000 0.000000 0.000553 0.001230 0.000190 0.000208 0.001619 0.000104 0.000597 0.000167 0.000498 0.001619 141 29 6 2 25 3 69 4 3 254798 23568 31648 9636 15442 28960 115496 24020 6028 0.000016 0.000000 0.000000 0.000000 0.000259 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 137 29 6 2 21 3 69 4 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 -1.732 255 PASS . . . . . 0.0053 0.0014 . . . . . . . . . 0.47826087 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.7937 . . . . . . . . 6.178e-04 . . . 0.0014 0.0006 0.0002 0.0019 0.0003 0.0005 0.0017 0.0001 0.0012 0.0006 0.0002 0.0027 0.0002 0.0004 0.0017 0.0001 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.17 0.08 182 ENSG00000165568 AKR1E2 AKR1E2 . . . . . . 15 0.000230854 64976 1 1.66706e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75589167 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0006 0.0002 0.0002 0.0017 0.0002 0.0007 0.0006 0.0001 0.0013 0.0004 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs75589167 rs75589167 1 1538 10 1/0 0,255,255 +rs199597549 10 5034002 A T - AKR1C2 385 Aldo-keto reductase family 1, member C2 NM_001354.5 -1 3606 972 NP_001345.1 P52895 substitution intron GRCh37 5034002 5034002 Chr10(GRCh37):g.5034002A>T 929+21 929+21 NM_001354.5:c.929+21T>A p.? p.? 10 10 600450 21 5' 83.257 6.69345 0.809496 1.88107 83.257 6.69345 0.809496 1.74279 0 rs199597549 yes no Frequency/1000G 2 0.000000 0 0.004901 0.008057 0.002236 0.006239 0.001240 0.002058 0.007204 0.001214 0.003846 0.008057 299 69 17 7 9 10 173 7 7 61008 8564 7604 1122 7258 4860 24016 5764 1820 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 299 69 17 7 9 10 173 7 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 -5.121 254 PASS 0.2 0.15 0.13 0.09 0.18 . . . . . . . . . . . 0.32142857 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -1.2030 . . . . . . . . 1.288e-03 . . . 0 0.0024 0 0 0 0.0036 0 0 0 0 0 0 0 0 . 0 . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.19 182 ENSG00000151632 . AKR1C2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0030 0.0018 0.0064 0.0009 0.0007 0.0050 0.0042 0.0021 0.0141 0.0094 0.0072 0.0056 0.0033 0.0017 0.0110 0.0032 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.2 rs5001363 rs5001363 rs5001363 rs199597549 1 1538 10 1/0 0,255,255 +rs34515072 10 5041580 C T - AKR1C2 385 Aldo-keto reductase family 1, member C2 NM_001354.5 -1 3606 972 NP_001345.1 P52895 substitution intron GRCh37 5041580 5041580 Chr10(GRCh37):g.5041580C>T 370-111 370-111 NM_001354.5:c.370-111G>A p.? p.? 6 5 600450 -111 3' 85.5206 5.16096 0.368241 4.98544 85.5206 5.16096 0.368241 4.98544 0 rs34515072 no no 0 T 0.000000 0 0.001083 0.001410 0.001279 0.003497 0.000621 0.000000 0.001006 0.000302 0.002188 0.003497 31 11 1 1 1 0 14 1 2 28612 7800 782 286 1610 0 13910 3310 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 11 1 1 1 0 14 1 2 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition G A G>A 0.000 -1.328 212 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.4351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.2 182 ENSG00000151632 . AKR1C2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0011 0.0013 0.0035 0.0006 0.0003 0.0010 0.0022 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs34515072 rs34515072 rs34515072 rs34515072 1 1538 10 1/0 0,245,255 +rs116968256 10 6538964 C T - PRKCQ 9410 Protein kinase C theta NM_001323265.1 -1 3340 2121 NP_001310194.1 Q04759 substitution intron GRCh37 6538964 6538964 Chr10(GRCh37):g.6538964C>T 660+33 660+33 NM_001323265.1:c.660+33G>A p.? p.? 7 7 600448 33 5' 86.8199 10.1256 0.989412 4.38646 86.8199 10.1256 0.989412 4.25411 0 Cryptic Donor Strongly Activated 6538967 0.000799 59.1399 0.623344 0.012632 63.5023 rs116968256 yes no Frequency/1000G 2 0.000000 0 0.002596 0.000000 0.007200 0.000000 0.004000 0.002900 0.004881 0.000793 0.001050 0.016637 0.000159 0.012665 0.005135 0.002369 0.004355 0.016637 1341 19 36 168 3 384 642 61 28 274722 23962 34290 10098 18836 30320 125036 25750 6430 0.000051 0.000000 0.000000 0.000396 0.000000 0.000330 0.000000 0.000000 0.000000 7 0 0 2 0 5 0 0 0 1327 19 36 164 3 374 642 61 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8547 4404 12951 53 2 55 0.00616279 0.000453926 0.00422882 0.00616279 0.000453926 0.00422882 134 transition G A G>A 0.000 -0.602 255 PASS . 0.0027 0.01 . 0.01 . 0.0026 0.0029 . 0.004 0.0072 . . . . . 0.51898736 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . 0.0005 0.0042 0.0062 0.0005 0.0042 0.0062 . -0.2480 . . . . . . . . 5.549e-03 . . . 0.0008 0.0059 0.0013 0.0002 0.0016 0.0064 0.0042 0.0138 0.0007 0.0057 0.0013 0.0003 0.0015 0.0063 0.0014 0.0138 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.35 0.23 182 ENSG00000065675 PRKCQ PRKCQ . . . . . . 233 0.00358594 64976 220 0.00366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116968256 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004229 . . . . . 0.0007 0.0051 0.0011 0.0164 0.0002 0.0025 0.0052 0.0046 0.0127 0.0009 0.0032 0 0.0232 0 0.0014 0.0050 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs116968256 rs116968256 1 1538 10 1/0 0,255,255 +rs36056263 10 7621875 T G - ITIH5 21449 Inter-alpha-trypsin inhibitor heavy chain family, member 5 NM_001001851.2 -1 3132 2109 NP_001001851.1 substitution missense exon GRCh37 7621875 7621875 Chr10(GRCh37):g.7621875T>G 1261 1261 NM_001001851.2:c.1261A>C p.Asn421His p.Asn421His 9 609783 153 3' 88.7023 9.73839 0.799788 6.41996 88.7023 9.73839 0.799788 6.41996 0 von Willebrand factor, type A rs36056263 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000000 0.001000 0.000000 0.011900 0.005800 0.005847 0.001040 0.001685 0.005615 0.000000 0.001234 0.010014 0.004808 0.007733 0.010014 1621 25 58 57 0 38 1269 124 50 277232 24032 34420 10152 18870 30782 126718 25792 6466 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000126 0.000000 0.000000 8 0 0 0 0 0 8 0 0 1605 25 58 57 0 38 1253 124 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8515 4402 12917 85 4 89 0.00988372 0.000907853 0.006843 0.00988372 0.000907853 0.006843 131 transversion A C A>C 1.000 2.142 N Asn AAC 0.536 H His CAC 0.587 421 12 7 Platypus 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 82.67 41.99 Tolerated 0.1 III.34 bad 5.508E-3 0.06292 252 PASS . 0.01 0.01 . 0.01 . 0.0034 0.0058 . 0.012 0.001 . . . . . 0.312 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.321 . @ . . . . . 1 0.704 . . 125.0 . . . 0.0009 0.0068 0.0099 0.0009 0.0068 0.0099 . 0.2096 0.255 0.210 c . . . . . 5.896e-03 . . . 0.0011 0.0052 0.0018 0 0.0050 0.0094 0.0070 0.0012 0.0011 0.0053 0.0019 0 0.0050 0.0087 0.0043 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.835 . . exonic exonic exonic . . 0.640 0.0034 . . . 0.36 0.5 182 ENSG00000123243 ITIH5 ITIH5 . . . 0.999 0.373 . 393 0.00604839 64976 376 0.00626813 59986 Uncertain_significance . 0 . 0.559 . . . . . . . . . 37 . 0.757 . . 0.727 . . . . 0.239 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.431 . . 0 0 0 0 0 0 . 0.537 . . 0.485 . . . . . . 0 0.309 . . . . . 0.360 . 0.114 . HET 0.05 rs36056263 . . . . . . . 0.005952380952380952 0.0 0.0055248618784530384 0.0 0.014511873350923483 9.1641 8.03E-4 . IV.92 IV.92 . 0.050000 . . . . 0.006843 . 0.505 . . IV.92 0.0012 0.0055 0.0017 0.0058 0 0.0049 0.0094 0.0064 0.0012 0.0008 0.0083 0 0 0 0.0040 0.0147 0.0153 . . 0.609 . 1.848 1.848000 . . 0.050000 . . 1.0000000000000001E-252 1.000 0.715 . 0.604 0.964 . 0.424 . 0.762 1.848 0.938 0.01 rs36056263 rs36056263 rs36056263 rs36056263 1 1538 10 1/0 0,238,255 +rs12413124 10 7627805 C A - ITIH5 21449 Inter-alpha-trypsin inhibitor heavy chain family, member 5 NM_001001851.2 -1 3132 2109 NP_001001851.1 substitution intron GRCh37 7627805 7627805 Chr10(GRCh37):g.7627805C>A 1108+59 1108+59 NM_001001851.2:c.1108+59G>T p.? p.? 8 8 609783 59 5' 79.775 8.26664 0.878144 2.50912 79.775 8.26664 0.878144 2.47931 0 rs12413124 yes no Frequency/1000G 2 0.000000 0 0.003501 0.002795 0.011194 0.000000 0.014793 0.000000 0.002419 0.005764 0.011050 0.014793 41 8 3 0 5 0 17 4 4 11712 2862 268 160 338 0 7028 694 362 0.024390 0.000000 0.000000 0.000000 0.000000 0.000000 0.058824 0.000000 0.000000 1 0 0 0 0 0 1 0 0 39 8 3 0 5 0 15 4 4 0 0 0 0 0 0 0 0 0 RF 93 Genomes transversion G T G>T 0.047 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.47 182 ENSG00000123243 ITIH5 ITIH5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12413124 0.141 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0035 0.0112 0 0.0148 0.0058 0.0024 0.0110 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs12413124 rs12413124 rs12413124 rs12413124 1 1538 10 1/0 0,255,255 +rs62640925 10 13653615 G A - PRPF18 17351 PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) NM_003675.3 1 1705 1029 NP_003666.1 Q99633 substitution missense exon GRCh37 13653615 13653615 Chr10(GRCh37):g.13653615G>A 511 511 NM_003675.3:c.511G>A p.Ala171Thr p.Ala171Thr 6 604993 1 3' 98.4473 IX.09 0.983994 8.54182 94.5364 8.85195 0.975486 8.14285 -0.0421269 rs62640925 yes no Frequency/1000G 2 G 0.000000 0 0.006789 0.000800 0.011200 0.000000 0.015900 0.008600 0.008943 0.001583 0.010258 0.016578 0.000000 0.011275 0.010050 0.008617 0.011975 0.016578 2473 38 351 168 0 346 1271 222 77 276542 24004 34218 10134 18838 30688 126466 25764 6430 0.000159 0.000000 0.000175 0.000197 0.000000 0.000261 0.000206 0.000000 0.000311 22 0 3 1 0 4 13 0 1 2429 38 345 166 0 338 1245 222 75 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4399 12904 95 7 102 0.0110465 0.00158874 0.00784253 0.0110465 0.00158874 0.00784253 110 transition G A G>A 1.000 1.900 A Ala GCG 0.107 T Thr ACG 0.116 171 13 10 Tetraodon 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 97.88 0.00 Tolerated 0.84 III.15 good 2.803E-1 0.2759 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.0068 0.0086 . 0.016 0.011 . PRPF18:uc001imp.3:exon6:c.G511A:p.A171T PRPF18:NM_003675:exon6:c.G511A:p.A171T . . 0.45652175 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.233 . @ . . . . . 1 0.157 . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A171T|PRPF18|mRNA|CODING|NM_003675|NM_003675.ex.6) 0.0016 0.0078 0.011 0.0016 0.0078 0.011 . -0.3474 -0.273 -0.347 c . . . . . 8.216e-03 . . . 0.0020 0.0086 0.0078 0 0.0100 0.0102 0.0098 0.0115 0.0022 0.0083 0.0075 0 0.0091 0.0096 0.0115 0.0114 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.305 0.0068 . . . 0.33 0.25 182 . PRPF18 PRPF18 . . . 1.000 0.402 . 660 0.0101576 64976 627 0.0104524 59986 Uncertain_significance . 0 . 0.491 . . . . . . . . . 37 . 0.372 . . 0.175 . . . 0.389 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.069 . . 0 0 0 0 0 0 . 0.135 . . 0.104 . . . . . . 0 0.067 . . . . . 0.436 . 0.107 . HET 0.37 rs62640925 . 0.014 . . . . . 0.005494505494505495 0.0020325203252032522 0.011049723756906077 0.0 0.009234828496042216 X.31 0.001873 . 5.V II.66 . . Q99633 0.0010 0.142 . 0.007843 . 0.511 . . II.66 0.0018 0.0090 0.0104 0.0167 0 0.0087 0.0097 0.0115 0.0113 0.0011 0.0082 0.0060 0.0132 0 0.0080 0.0129 0.0144 . . 0.609 . 0.294 0.294000 . . . . . 1.0E-255 1.000 0.715 . 0.169 0.790 . 0.645 . 0.201 0.294 0.917 0.011 rs62640925 rs62640925 rs62640925 rs62640925 1 1538 10 1/0 0,255,255 +rs3837313 10 16737166 G A - RSU1 10464 Ras suppressor protein 1 NM_012425.3 -1 3755 834 NP_036557.1 Q15404 substitution intron GRCh37 16737166 16737166 Chr10(GRCh37):g.16737166G>A 599-12 599-12 NM_012425.3:c.599-12C>T p.? p.? 8 7 179555 -12 3' 82.8051 XII.92 0.990324 XI.38 86.0921 XII.92 0.992004 XI.66 0.0220911 rs3837313 yes no Frequency/1000G 2 A 0.000000 0 0.451677 0.540100 0.359900 0.476200 0.412500 0.433700 transition C T C>T 0.000 0.125 255 PASS . . . . . 0.54 0.45 0.43 0.48 0.41 0.36 . . . . . 0.78571427 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . 0.2387 . . . . . . . . . . . . 0.4386 0.3795 0.3834 0.4061 0.3114 0.3853 0.3792 0.3371 0.4409 0.3777 0.3842 0.4040 0.3326 0.3814 0.3829 0.3364 . . . . . . intronic intronic intronic . . . 0.4517 . . . 0.32 0.38 182 ENSG00000148484 RSU1 RSU1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs3837313 0.033 0.029 . . . . . . . . . . . . . . . . . . 0 0 . . . . . . II.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs3837313 . 1 1538 10 1/0 0,255,255 +rs2796835 10 16943371 G C - CUBN 2548 Cubilin (intrinsic factor-cobalamin receptor) NM_001081.3 -1 11933 10872 NP_001072.2 O60494 substitution missense exon GRCh37 16943371 16943371 Chr10(GRCh37):g.16943371G>C 8150 8150 NM_001081.3:c.8150C>G p.Ser2717Trp p.Ser2717Trp 52 602997 -35 5' 73.8017 7.93713 0.945084 4.48116 73.8017 7.93713 0.945084 3.94066 0 CUB rs2796835 yes no Frequency/HapMap/1000G 3 C benign 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999993 0.999917 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 277202 24036 34418 10152 18870 30782 126682 25794 6468 277204 24038 34418 10152 18870 30782 126682 25794 6468 0.999986 0.999834 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 138600 12017 17209 5076 9435 15391 63341 12897 3234 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 1 1 8600 4405 13005 0 0.000226963 7.68876e-05 1 0.999773 0.999923 139 RCV000383109.1 germline clinical testing Benign 1 Megaloblastic anemia transversion C G C>G 1.000 3.918 S Ser TCG 0.056 W Trp TGG 1.000 2717 10 1 -4 -3 -6 I.42 0.13 9.II 5.IV 32 170 177 C0 176.58 0.00 Tolerated 1 III.96 good 9.999E-1 7.352E-5 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. ENSG00000107611:ENST00000377833:exon52:c.C8150G:p.S2717W . CUBN:NM_001081:exon52:c.C8150G:p.S2717W . . 1.0 . . germline 82 . . 1.2.2016 1 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.365 . Benign Benign RCV000383109.1 Megaloblastic_anemia Human_Phenotype_Ontology:MedGen HP:0001889:CN001708 1 0.135 . . 82.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S2717W|CUBN|mRNA|CODING|NM_001081|NM_001081.ex.52) 1. 1. 1. 1. 1. 1. . -0.9781 -0.579 -0.978 c . . . . . 1.000 . . . 0.9998 1.0000 1 1 1 1 1 1 0.9998 1.0000 1 1 1 1 1 1 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.087 . . exonic exonic exonic . . 0.893 0.0000 . . . 0.63 0.47 182 ENSG00000107611 CUBN CUBN . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.422 . . . . . . . . . 37 . 0.000 . . 0.477 . . . 0.000 0.411 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 1 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.870 . 0.097 . HOM 1 rs2796835 1.000 1.000 . . . . . 1.0 1.0 1.0 1.0 1.0 17.3136 0.999732 ENST00000377833 V.72 V.72 . 1.000000 O60494 . . . 0.999923 . 0.002 . . V.72 0.9999 1.0000 1 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . 0.283 . 1.564 1.564000 . . 1.000000 . . 1.0E-111 1.000 0.715 . 0.167 0.605 . 0.641 . 0.169 1.564 0.005 1. rs2796835 rs2796835 rs2796835 rs2796835 1 1538 255 1.I 0,0,255 +rs369156076 10 17275747 C T - VIM 12692 Vimentin NM_003380.4 1 2189 1401 NP_003371.2 P08670 substitution intron GRCh37 17275747 17275747 Chr10(GRCh37):g.17275747C>T 721-22 721-22 NM_003380.4:c.721-22C>T p.? p.? 5 4 193060 -22 3' 98.469 13.0726 0.992592 13.1964 98.469 13.0726 0.992592 14.0435 0 rs369156076 yes no Frequency 1 C 0.000000 0 0.000115 0.000083 0.000058 0.000000 0.000000 0.000000 0.000221 0.000000 0.000000 0.000221 32 2 2 0 0 0 28 0 0 277238 24040 34418 10152 18870 30782 126718 25794 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 2 2 0 0 0 28 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 67 transition C T C>T 0.189 2.142 255 PASS . . . . . . . . . . . . . . . . 0.5132743 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . I.45 . . . . . . . . 9.471e-05 . . . 0 4.409e-05 8.651e-05 0.0002 0 4.748e-05 0 0 0 9.417e-05 8.919e-05 0 0 0.0002 0 0 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.46 0.37 182 ENSG00000234961 VIM VIM . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369156076 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . IV.74 6.534e-05 0.0001 5.956e-05 0 0 0 0.0002 0 0 0.0001 6.455e-05 0 0 0 0 6.663e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs369156076 . 1 1538 10 1/0 0,255,255 +rs368516333 10 22022383 A G - MLLT10 16063 "Myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10" NM_001195626.1 1 4854 3207 NP_001182555.1 P55197 substitution intron GRCh37 22022383 22022383 Chr10(GRCh37):g.22022383A>G 2408-50 2408-50 NM_001195626.1:c.2408-50A>G p.? p.? 18 17 602409 -50 3' 87.2224 9.04876 0.908733 V.33 87.2224 9.04876 0.908733 5.53295 0 New Acceptor Site 22022384 5.34416 0.005648 66.5437 22022383 -68.6283 rs368516333 yes no Frequency 1 A 0.000000 0 0.000476 0.000064 0.000000 0.000409 0.000000 0.000000 0.000783 0.000656 0.000000 0.000783 50 1 0 1 0 0 39 9 0 105032 15680 6894 2446 8316 5510 49798 13726 2662 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 1 0 1 0 0 39 9 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8365 4304 12669 3 0 3 0.000358509 0 0.000236742 0.000358509 0 0.000236742 29 transition A G A>G 0.055 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . 0.0002 0.0004 . 0.0002 0.0004 . 0.2859 . . . . . . . . 2.292e-04 . . . 0 0.0007 0 0 0 0.0013 0 0 0 0.0003 0 0 0.0013 0.0004 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.14 182 ENSG00000078403 MLLT10 MLLT10 . . . . . . 8 0.000123122 64976 8 0.000133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368516333 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv894947 0.000237 . . . . . 0.0001 0.0006 0 0.0005 0 0.0008 0.0009 0 0 0 0.0002 0 0 0 0.0003 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs368516333 . 1 1538 10 1/0 0,255,255 +. 10 22649630 A G - SPAG6 11215 Sperm associated antigen 6 NM_012443.3 1 2619 1530 NP_036575.1 O75602 substitution intron GRCh37 22649630 22649630 Chr10(GRCh37):g.22649630A>G 122-4152 122-4152 NM_012443.3:c.122-4152A>G p.? p.? 3 2 605730 -4152 3' 77.8288 6.15722 0.345141 3.93166 77.8288 6.15722 0.345141 3.93166 0 Cryptic Donor Strongly Activated 22649630 0.000796 56.721 3.91468 0.204849 68.857 transition A G A>G 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.54347825 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.0483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000077327 SPAG6 SPAG6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs35575696 10 26463052 C A - MYO3A 7601 Myosin IIIA NM_017433.4 1 5784 4851 NP_059129.3 Q8NEV4 substitution missense exon GRCh37 26463052 26463052 Chr10(GRCh37):g.26463052C>A 3859 3859 NM_017433.4:c.3859C>A p.Pro1287Thr p.Pro1287Thr 30 606808 -435 5' 89.8263 9.80181 0.994354 2.1398 89.8263 9.80181 0.994354 2.1398 0 rs35575696 yes no Frequency/1000G 2 C benign 0.000000 0 0.003994 0.000000 0.007200 0.000000 0.012900 0.000000 0.009366 0.001583 0.002383 0.016568 0.000106 0.014100 0.010820 0.017177 0.008981 0.017177 2594 38 82 168 2 434 1369 443 58 276960 24002 34414 10140 18856 30780 126520 25790 6458 0.000144 0.000000 0.000000 0.000000 0.000000 0.000585 0.000142 0.000155 0.000000 20 0 0 0 0 9 9 2 0 2554 38 82 168 2 416 1351 439 58 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4398 12903 95 8 103 0.0110465 0.00181571 0.00791942 0.0110465 0.00181571 0.00791942 63 RCV000039037.2 germline clinical testing Benign 1 not specified transversion C A C>A 0.575 0.205 P Pro CCT 0.283 T Thr ACT 0.243 1287 11 8 Chicken -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 228.50 5.VII Tolerated 0.16 III.74 good 3.182E-2 0.006178 255 PASS . 0.01 . . 0.02 . 0.004 . . 0.013 0.0072 ENSG00000095777:ENST00000265944:exon30:c.C3859A:p.P1287T MYO3A:uc001isn.2:exon30:c.C3859A:p.P1287T MYO3A:NM_017433:exon30:c.C3859A:p.P1287T . . 0.41666666 . . germline 20 . . 1.2.2016 0 1 0 0 1 0 1 0 1 1 0 0 . . . . . . 0.148 . Benign Benign RCV000039037.2 not_specified MedGen CN169374 1 0.009 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1287T|MYO3A|mRNA|CODING|NM_017433|NM_017433.ex.30) 0.0018 0.0079 0.011 0.0018 0.0079 0.011 . -0.8230 -0.822 -0.823 c . . . . . 9.913e-03 . . . 0.0017 0.0090 0.0029 0 0.0203 0.0105 0.0099 0.0147 0.0016 0.0099 0.0026 0.0001 0.0204 0.0114 0.0144 0.0146 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.759 . . exonic exonic exonic . . 0.239 0.0040 . . . 0.17 0.13 182 ENSG00000095777 MYO3A MYO3A . . . 0.000 0.029 . 563 0.00866474 64976 543 0.00905211 59986 Benign . 0 . 0.115 . . . . . . . . . 37 . 0.444 . . 0.557 . . . 0.281 0.341 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.258 . . 0 0 0 0 1 0 . 0.163 . . 0.093 . . . . . . 0 0.277 . . . . . 0.396 . 0.012 . HET 0.07 rs35575696 . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000039037.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000039037.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000039037.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . 0.005494505494505495 0.0 0.0 0.0 0.0158311345646438 IX.11 0.00214 ENST00000265944 V.33 I.79 . 0.160000 Q8NEV4 . . Name\x3dnsv894975 0.007919 . 0.224 . . . 0.0014 0.0094 0.0024 0.0167 0.0001 0.0174 0.0107 0.0073 0.0141 0.0019 0.0089 0.0036 0.0132 0 0.0160 0.0118 0.0183 . . 0.283 . 0.672 0.672000 . . 0.160000 . . 1.0E-255 0.162 0.236 . 0.498 0.992 . 0.215 . 0.490 0.672 -0.058 0.02 rs35575696 rs35575696 rs35575696 rs35575696 1 1538 10 1/0 0,255,255 +rs200232575 10 26856004 G T - APBB1IP 17379 Amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein NM_019043.3 1 2637 2001 NP_061916.3 Q7Z5R6 substitution missense exon GRCh37 26856004 26856004 Chr10(GRCh37):g.26856004G>T 1588 1588 NM_019043.3:c.1588G>T p.Gly530Cys p.Gly530Cys 15 609036 115 3' 81.2858 7.518 0.054915 6.38307 81.2858 7.518 0.054915 6.38307 0 Cryptic Acceptor Strongly Activated 26856003 0.260603 0.000161 73.3035 0.551076 0.000479 73.3035 rs200232575 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000800 0.000000 0.000000 0.008000 0.001400 0.004745 0.000966 0.001276 0.001131 0.000000 0.003294 0.008023 0.003107 0.005337 0.008023 546 11 16 6 0 56 415 26 16 115064 11392 12536 5306 5738 17002 51724 8368 2998 0.000070 0.000000 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 0.000000 4 0 0 0 0 0 4 0 0 538 11 16 6 0 56 407 26 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4641 2176 6817 27 2 29 0.00578406 0.000918274 0.00423605 0.00578406 0.000918274 0.00423605 4 COSM1739701 Haematopoietic and lymphoid tissue 0.000283 3530 transversion G T G>T 0.000 -2.297 G Gly GGC 0.342 C Cys TGC 0.552 530 12 6 Cow -3 -3 -6 0.74 II.75 9 5.V 3 55 159 C0 209.54 46.44 Tolerated 0.07 III.66 good 5.476E-1 0.0858 233 PASS . . . . . 0.0008 0.002 0.0014 . 0.008 . ENSG00000077420:ENST00000376236:exon15:c.G1588T:p.G530C APBB1IP:uc001iss.3:exon15:c.G1588T:p.G530C APBB1IP:NM_019043:exon15:c.G1588T:p.G530C . . 0.2631579 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.122 . . 19.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Tgc|G530C|APBB1IP|mRNA|CODING|NM_019043|NM_019043.ex.15) 0.0009 0.0042 0.0058 0.0009 0.0042 0.0058 . -1.8232 -1.964 -1.823 c . . . . . 3.379e-03 . . . 0.0021 0.0068 0.0022 0 0.0192 0.0112 0.0061 0.0053 0.0023 0.0066 0.0023 0 0.0084 0.0098 0 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.004 0.0020 . . . 0.44 0.43 182 ENSG00000077420 APBB1IP APBB1IP . . . 1.000 0.747 . 304 0.00467865 64976 294 0.00490114 59986 Likely_benign . 0 . 0.065 . . . . . . . . . 37 . 0.141 . . 0.281 . . . 0.263 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.301 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.176 . . . . . 0.079 . 0.179 . HET 0.1 rs200232575 . . . . . . ID\x3dCOSM1739701\x3bOCCURENCE\x3d1(haematopoietic_and_lymphoid_tissue) . . . . . 3.704 9.67E-4 . IV.94 -9.89 . 0.100000 Q7Z5R6 . . . 0.004236 . 0.083 . . . 0.0006 0.0045 0.0013 0.0012 0 0.0034 0.0073 0.0057 0.0033 0.0011 0.0056 0.0013 0 0 0.0026 0.0099 0.0045 . . 0.924 . -1.746 -1.746000 . . 0.100000 . . 1.0000000000000001E-233 0.000 0.063 . 0.043 0.009 . 0.004 . 0.006 -1.746 -0.035 0.0058 . . rs200232575 rs200232575 1 1538 10 1/0 0,255,255 +rs142646098 10 27688101 G A - PTCHD3 24776 Patched domain containing 3 NM_001034842.3 -1 2528 2304 NP_001030014.2 Q3KNS1 substitution stop gain exon GRCh37 27688101 27688101 Chr10(GRCh37):g.27688101G>A 1426 1426 NM_001034842.3:c.1426C>T p.Arg476* p.Arg476* 4 611791 69 3' 100 13.3689 0.998531 16.4494 100 13.3689 0.998531 16.1886 0 Patched Sterol-sensing domain rs142646098 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.006000 0.001400 0.005170 0.001261 0.000903 0.001482 0.000000 0.001788 0.009240 0.003892 0.004429 0.009240 1402 30 31 15 0 55 1159 84 28 271192 23794 34344 10120 18834 30762 125434 21582 6322 0.000081 0.000000 0.000000 0.000000 0.000000 0.000000 0.000159 0.000093 0.000000 11 0 0 0 0 0 10 1 0 1380 30 31 15 0 55 1139 82 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4401 12927 74 5 79 0.00860465 0.00113482 0.00607412 0.00860465 0.00113482 0.00607412 73 CM134375 Autism spectrum disorder 23352160 DM? transition C T C>T 0.000 -0.198 R Arg CGA 0.110 * * TGA 0.489 476 255 PASS . 0.0027 0.0028 . 0.01 . 0.0018 0.0014 . 0.006 0.002 ENSG00000182077:ENST00000438700:exon4:c.C1426T:p.R476X PTCHD3:uc001itu.2:exon4:c.C1426T:p.R476X PTCHD3:NM_001034842:exon4:c.C1426T:p.R476X . . 0.6 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.952 . @ . . . . . 0 0.265 . . 55.0 . . STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R476*|PTCHD3|mRNA|CODING|NM_001034842|NM_001034842.ex.4) 0.0011 0.0061 0.0086 0.0011 0.0061 0.0086 . -0.1183 -0.522 -0.118 c . . . . . 5.935e-03 . . . 0.0014 0.0039 0.0010 0 0.0053 0.0065 0.0014 0.0018 0.0014 0.0060 0.0011 0 0.0048 0.0101 0.0014 0.0019 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.077 0.0018 . . . 0.18 0.23 182 ENSG00000182077 PTCHD3 PTCHD3 . . . 0.000 0.052 . 472 0.00726422 64976 463 0.00771847 59986 Uncertain_significance . 0 . 0.024 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.019 . . . HET . . . . . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 I.43 0.001605 ENST00000438700 III.84 -1.69 . 0.750000 . . . . 0.006074 . 0.071 . . . 0.0014 0.0052 0.0009 0.0015 0 0.0040 0.0094 0.0043 0.0018 0.0009 0.0048 0.0012 0 0 0.0030 0.0082 0.0054 . . 0.133 . -0.208 -0.208000 . . 0.750000 . . 1.0E-255 0.000 0.063 . 0.062 0.000 . 0.260 . 0.096 -0.208 -1.067 0.01 . . rs142646098 rs142646098 1 1538 10 1/0 0,255,255 +rs760757191 10 27817242 A G - RAB18 14244 RAB18, member RAS oncogene family NM_001256410.1 1 5090 708 NP_001243339.1 substitution intron GRCh37 27817242 27817242 Chr10(GRCh37):g.27817242A>G 186+1424 186+1424 NM_001256410.1:c.186+1424A>G p.? p.? 3 3 602207 1424 5' 81.5823 8.90513 0.984658 0 81.5823 8.90513 0.984658 0 0 Cryptic Acceptor Strongly Activated 27817242 1.32456 0.01186 75.4312 3.63554 0.055309 79.3421 rs760757191 yes no Frequency 1 A 0.000000 0 0.000171 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.002009 0.000179 0.002009 38 0 0 0 0 0 8 29 1 222720 20278 30556 9248 16620 26360 99640 14432 5586 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 0 0 0 0 0 8 29 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . 0.0026 . . . . . . . . 1.638e-04 . . . 0 0.0002 0 0 0.0042 0 0 0 0 0.0004 0 0 0.0036 0.0002 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000099246 RAB18 RAB18 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs760757191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0021 4.725e-05 0 0 0 0.0004 0 0 0 0.0017 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs147999424 10 28438930 G A - MPP7 26542 Membrane protein, palmitoylated 7 NM_001318170.1 -1 5140 1731 NP_001305099.1 Q5T2T1 substitution missense exon GRCh37 28438930 28438930 Chr10(GRCh37):g.28438930G>A 215 215 NM_001318170.1:c.215C>T p.Ala72Val p.Ala72Val 4 610973 -20 5' 84.3303 9.11473 0.992562 5.09959 84.3303 9.11473 0.992562 4.52301 0 rs147999424 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.001612 0.000083 0.000263 0.000494 0.000000 0.000130 0.001457 0.008590 0.003425 0.008590 445 2 9 5 0 4 184 219 22 275978 24006 34164 10126 18798 30694 126272 25494 6424 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000078 0.000000 2 0 0 0 0 0 1 1 0 441 2 9 5 0 4 182 217 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4403 12999 4 3 7 0.000465116 0.00068089 0.000538213 0.000465116 0.00068089 0.000538213 68 transition C T C>T 0.945 4.241 A Ala GCG 0.107 V Val GTG 0.468 72 13 10 Zebrafish 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 254.01 0.00 Tolerated 0.19 III.33 255 PASS . 0.0014 . . 0.004 . 0.0008 . . 0.004 . . . MPP7:NM_173496:exon6:c.C215T:p.A72V . . 0.41237113 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.902 . @ . . . . . 1 0.978 . . 97.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A72V|MPP7|mRNA|CODING|NM_173496|NM_173496.ex.6) 0.0007 0.0005 0.0005 0.0007 0.0005 0.0005 . 0.6763 0.593 0.676 c . . . . . 1.681e-03 . . . 0.0002 0.0009 0.0002 0 0.0075 0.0011 0 0.0001 0.0002 0.0015 0.0002 0 0.0083 0.0019 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.137 . . exonic exonic exonic . . 0.828 0.0008 . . . 0.46 0.55 182 ENSG00000150054 MPP7 MPP7 . . . 0.999 0.378 . 116 0.00178527 64976 112 0.0018671 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.502 0.027 . . 37 . 0.435 . . 0.381 . . . 0.838 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.611 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.784 . . . . . 0.950 . 0.635 . HET 0 rs147999424 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 19.4932 8.03E-4 . V.54 V.54 . 0.060000 Q5T2T1 . . . 0.000538 . 0.683 . . V.54 6.547e-05 0.0016 0.0003 0.0005 0 0.0085 0.0014 0.0037 0.0001 0.0001 0.0019 0 0 0 0.0092 0.0015 0.0020 . . 0.428 . 2.609 2.609000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.277 0.981 . 0.746 . 0.416 2.609 0.917 0.004 . . rs147999424 rs147999424 1 1538 10 1/0 0,253,255 +rs757300194 10 29779789 C T - SVIL 11480 Supervillin NM_021738.2 -1 8297 6645 NP_068506.2 O95425 substitution missense exon GRCh37 29779789 29779789 Chr10(GRCh37):g.29779789C>T 4179 4179 NM_021738.2:c.4179G>A p.Met1393Ile p.Met1393Ile 22 604126 -14 5' 74.2342 7.35828 0.949748 6.66849 74.2342 7.35828 0.949748 6.20531 0 rs757300194 yes no Frequency 1 C 0.000000 0 0.000053 0.000000 0.000060 0.000215 0.000000 0.000215 0.000033 0.000000 0.000000 0.000215 14 0 2 2 0 6 4 0 0 264172 23634 33072 9290 18550 27916 120918 24654 6138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 2 2 0 6 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3358725|COSM3358725|COSM3358725 Liver|Kidney|Endometrium 0.000422|0.000578|0.001524 2371|1729|656 transition G A G>A 1.000 3.353 M Met ATG 1.000 I Ile ATA 0.163 1393 12 9 Tetraodon 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.06 III.29 bad 5.007E-4 0.0001113 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.105 . . 100.0 . . . . . . . . . . -0.4823 -0.409 -0.482 c . . . . . 3.189e-03 . . . 0.0008 0.0036 0.0003 0 0.0005 0.0022 0.0043 0.0140 0.0009 0.0033 0.0003 0.0004 0.0025 0.0018 0.0060 0.0141 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.108 . . exonic exonic exonic . . 0.334 @ . . . . . . ENSG00000197321 SVIL SVIL . . . 0.986 0.310 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.779 . . 0.726 . . . 0.323 0.480 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.198 . . 0.158 . . . . . . 1 0.263 . . . . . 0.487 . 0.544 . LowAF 0.13 rs757300194 . . . . . . ID\x3dCOSM3358725\x3bOCCURENCE\x3d1(kidney) . . . . . XI.88 . . III.88 II.98 . 0.150000 . . . . . . 0.704 . . II.98 0 5.131e-05 6.2e-05 0.0002 0 0 1.883e-05 0 0.0002 0 6.598e-05 0 0 0 0 0.0001 0 . . 0.609 . 0.848 0.848000 . . 0.150000 . . 1.0E-183 1.000 0.715 . 0.888 1.000 . 0.670 . 0.333 0.848 0.871 . . . . . 1 1538 10 1/0 0,228,255 +rs11813359 10 30318345 C T - JCAD 29283 Junctional cadherin 5 associated NM_001350022.1 -1 9472 4080 NP_001336951.1 Q9P266 substitution synonymous exon GRCh37 30318345 30318345 Chr10(GRCh37):g.30318345C>T 732 732 NM_001350022.1:c.732G>A p.Thr244= p.Thr244Thr 4 614398 451 3' 92.7048 X.39 0.96956 XII.02 92.7048 X.39 0.96956 XII.02 0 rs11813359 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.003994 0.002300 0.001000 0.000000 0.013900 0.002900 0.009367 0.003042 0.005026 0.009953 0.000000 0.005458 0.014975 0.004497 0.010530 0.014975 2596 73 173 101 0 168 1897 116 68 277144 23998 34420 10148 18864 30782 126680 25794 6458 0.000152 0.000000 0.000058 0.000000 0.000000 0.000325 0.000237 0.000000 0.000000 21 0 1 0 0 5 15 0 0 2554 73 171 101 0 158 1867 116 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8169 3910 12079 113 12 125 0.013644 0.00305966 0.0102425 0.013644 0.00305966 0.0102425 138 transition G A G>A 0.008 -0.198 T Thr ACG 0.116 T Thr ACA 0.280 244 255 PASS 0.002 0.01 0.0028 . 0.01 0.0023 0.004 0.0029 . 0.014 0.001 ENSG00000165757:ENST00000375377:exon3:c.G732A:p.T244T . KIAA1462:NM_020848:exon3:c.G732A:p.T244T . . 0.5405405 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 111.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T244|KIAA1462|mRNA|CODING|NM_020848|NM_020848.ex.3) 0.0031 0.01 0.014 0.0031 0.01 0.014 . -0.0371 . . . . . . . . 9.926e-03 . . . 0.0034 0.0081 0.0039 0 0.0034 0.0130 0.0028 0.0056 0.0032 0.0096 0.0035 0 0.0041 0.0153 0.0058 0.0055 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0040 . . . 0.31 0.48 182 ENSG00000165757 KIAA1462 KIAA1462 . . . . . . 813 0.0125123 64976 793 0.0132198 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11813359 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010243 . . . . . 0.0028 0.0096 0.0050 0.0095 0 0.0044 0.0155 0.0100 0.0055 0.0034 0.0076 0.0048 0.0233 0 0.0052 0.0109 0.0133 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 rs11813359 rs11813359 rs11813359 rs11813359 1 1538 10 1/0 0,255,255 +. 10 31652262 G C - ZEB1 11642 Zinc finger E-box binding homeobox 1 NM_001174096.1 1 5991 3378 NP_001167567.1 substitution intron GRCh37 31652262 31652262 Chr10(GRCh37):g.31652262G>C 58+44041 58+44041 NM_001174096.1:c.58+44041G>C p.? p.? 1 1 189909 44041 5' 86.4167 XI.33 0.991926 16.0144 86.4167 XI.33 0.991926 16.0144 0 transversion G C G>C 0.339 0.044 196 PASS . . . . . . . . . . . . . . . . 0.14893617 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . -0.1449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000196960 ZEB1 ZEB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs61841293 (chr10:38897584 G/A) 10 38897584 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs61841294 (chr10:38897601 G/A) 10 38897601 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs74406779 (chr10:38897619 C/T) 10 38897619 C T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs77778770 (chr10:38897626 T/A) 10 38897626 T A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs796838130 (chr10:38897632 G/A) 10 38897632 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs77695953 (chr10:38897635 G/A) 10 38897635 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs184522060 (chr10:38897640 G/A) 10 38897640 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs796537308 (chr10:38897671 C/T) 10 38897671 C T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs796611642 (chr10:38897673 A/G) 10 38897673 A G No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs796861239 (chr10:38897674 G/T) 10 38897674 G T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs373096694 (chr10:38897692 C/T) 10 38897692 C T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs112170342 (chr10:38897697 C/T) 10 38897697 C T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs4272729 (chr10:38934217 G/A) 10 38934217 G A Not on a known gene +rs4253994 (chr10:38934239 A/T) 10 38934239 A T Not on a known gene +. (chr10:38938435 C/G) 10 38938435 C G Not on a known gene +rs199747655 (chr10:38938438 T/A) 10 38938438 T A Not on a known gene +rs2208484 (chr10:38938452 A/G) 10 38938452 A G Not on a known gene +rs4070337 (chr10:38938479 C/A) 10 38938479 C A Not on a known gene +rs201520351 (chr10:38938510 T/C) 10 38938510 T C Not on a known gene +rs199987369 (chr10:38938522 G/A) 10 38938522 G A Not on a known gene +rs201101738 (chr10:38938541 C/G) 10 38938541 C G Not on a known gene +rs4436477 (chr10:38939503 A/G) 10 38939503 A G Not on a known gene +rs4474366 (chr10:38939542 T/C) 10 38939542 T C Not on a known gene +rs201133963 10 38990144 G A - ACTR3BP5 38682 ACTR3B pseudogene 5 NR_045000.1 1 1646 0 substitution exon GRCh37 38990144 38990144 Chr10(GRCh37):g.38990144G>A 418 418 NR_045000.1:n.418G>A 1 rs201133963 no no 0 G 0.000000 0 transition G A G>A 1.000 3.111 231 PASS . . . . . . . . . . . . . . . . 0.24657534 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D140N|ACTR3BP5|Non-coding_transcript|NON_CODING|NR_045000|NR_045000.ex.1) . . . . . . . 0.0555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.46 0.02 182 ENSG00000227264 ACTR3BP5 ACTR3BP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201133963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs4059699 rs4059699 rs4059699 rs201133963 1 1538 10 1/0 0,251,255 +. 10 38990214 G A - ACTR3BP5 38682 ACTR3B pseudogene 5 NR_045000.1 1 1646 0 substitution exon GRCh37 38990214 38990214 Chr10(GRCh37):g.38990214G>A 488 488 NR_045000.1:n.488G>A 1 transition G A G>A 1.000 2.304 202 PASS . . . . . . . . . . . . . . . . 0.16455697 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C163Y|ACTR3BP5|Non-coding_transcript|NON_CODING|NR_045000|NR_045000.ex.1) . . . . . . . 0.0664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.48 0.01 182 ENSG00000227264 ACTR3BP5 ACTR3BP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs4068729 rs4068729 rs4068729 rs4068729 1 1538 10 1/0 0,241,255 +. (chr10:42681215 GT/G) 10 42681215 GT G Not on a known gene +rs3128239 10 44103923 G C - ZNF485 23440 Zinc finger protein 485 NM_001318140.1 1 2072 1326 NP_001305069.1 Q8NCK3 substitution intron GRCh37 44103923 44103923 Chr10(GRCh37):g.44103923G>C 25-139 25-139 NM_001318140.1:c.25-139G>C p.? p.? 3 2 -139 3' 93.4477 6.94984 0.833516 6.15852 93.4477 6.94984 0.833516 6.15852 0 Cryptic Acceptor Strongly Activated 44103926 1.8e-05 60.2635 2.21533 0.076759 71.0855 rs3128239 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30979 8729 838 302 1622 0 15012 3494 982 30980 8730 838 302 1622 0 15012 3494 982 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15489 4364 419 151 811 0 7506 1747 491 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 47 Genomes transversion G C G>C 0.000 -0.360 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 71 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . INTRON(MODIFIER||||ZNF485|mRNA|CODING|NM_145312|) . . . . . . . -0.3376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.18 0.06 182 ENSG00000198298 ZNF485 ZNF485 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs3128239 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs3128239 rs3128239 rs3128239 rs3128239 1 1538 255 1.I 0,0,255 +rs181419001 10 45466936 T C - RASSF4 20793 Ras association (RalGDS/AF-6) domain family member 4 NM_032023.3 1 2495 966 NP_114412.2 Q9H2L5 substitution intron GRCh37 45466936 45466936 Chr10(GRCh37):g.45466936T>C 63-285 63-285 NM_032023.3:c.63-285T>C p.? p.? 3 2 610559 -285 3' 88.0611 14.7494 0.996734 XII.95 88.0611 14.7494 0.996734 XII.95 0 Cryptic Acceptor Weakly Activated 45466939 1.46159 0.09353 70.862 2.48856 0.067697 77.0387 rs181419001 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.002849 0.000265 0.000934 0.002635 0.000000 0.000000 0.004993 0.006218 0.004480 0.006218 467 4 23 22 0 0 332 65 21 163898 15108 24622 8348 11586 22598 66494 10454 4688 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000060 0.000191 0.000000 3 0 0 0 0 0 2 1 0 461 4 23 22 0 0 328 63 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.924 255 PASS . 0.0032 . . 0.01 . 0.0014 . . 0.007 . . . . . . 0.46153846 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.2622 . . . . . . . . 1.518e-03 . . . 0.0015 0.0015 0 0 0 0.0045 0 0 0 0.0017 0 0 0.0068 0.0039 0 0 . . . . . . intronic UTR5 intronic . . . 0.0014 . . . 0.37 0.15 182 ENSG00000107551 RASSF4 RASSF4 . uc001jbp.3:c.-130T>C . . . . 144 0.0022162 64976 137 0.00228387 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs181419001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0023 0.0010 0.0027 0 0.0060 0.0039 0.0035 0 0.0003 0.0053 0 0 0 0.0066 0.0087 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs181419001 rs181419001 1 1538 10 1/0 0,254,255 +rs184722204 10 45799953 A T - OR13A1 14772 Olfactory receptor, family 13, subfamily A, member 1 NM_001004297.2 -1 2078 987 NP_001004297.2 Q8NGR1 substitution intron GRCh37 45799953 45799953 Chr10(GRCh37):g.45799953A>T -83 -83 NM_001004297.2:c.-12-71T>A p.? p.? 4 3 -71 3' 82.9113 9.08691 0.986856 10.1098 82.9113 9.08691 0.986856 X.87 0 New Acceptor Site 45799951 4.68356 0.110244 77.9092 45799954 -5.96791 rs184722204 yes no Frequency/1000G 2 A 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.002002 0.000344 0.000000 0.000000 0.000000 0.000000 0.002332 0.005441 0.005092 0.005441 62 3 0 0 0 0 35 19 5 30970 8728 838 302 1620 0 15008 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 3 0 0 0 0 35 19 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T A T>A 0.000 0.044 255 PASS . 0.0027 . . 0.01 . 0.001 . . 0.005 . . . . . . 0.4 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||OR13A1|mRNA|CODING|NM_001004297|) . . . . . . . 0.1106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.26 0.37 182 ENSG00000256574 OR13A1 OR13A1 . . . . . . 128 0.00196996 64976 123 0.00205048 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . . . . . . . . . . 0.0003 0.0020 0 0 0 0.0054 0.0023 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs184722204 rs184722204 1 1538 10 1/0 0,255,255 +rs200609257 (chr10:46174375 G/A) 10 46174375 G A No Alamut gene - other known genes: CTGLF10P CTGLF10P +rs61855788 10 46194360 A G - FAM21FP 45011 Family with sequence similarity 21, member F, pseudogene XR_247515.1 -1 1596 0 substitution downstream GRCh37 46194360 46194360 Chr10(GRCh37):g.46194360A>G *7188 *7188 XR_247515.1:n.*7188T>C p.? p.? 13 7651 3' 89.871 XI.72 0.952271 9.84796 89.871 XI.72 0.952271 9.84796 0 rs61855788 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000000 0.002000 0.001000 0.000000 0.001400 0.000849 0.004016 0.000000 0.000000 0.000000 0.000000 0.000781 0.000000 0.000000 0.004016 3 2 0 0 0 0 1 0 0 3534 498 170 34 92 0 1280 1282 178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 73 Genomes transition T C T>C 1.000 2.385 214 PASS . . . . . . 0.0008 0.0014 0.001 . 0.002 . . . . . 0.19565217 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 138.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic downstream intergenic . . . 0.0008 . . . . . . ENSG00000230869 DQ577099 . . . dist\x3d26099\x3bdist\x3d28288 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs61855788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0008 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs61855788 rs61855788 rs61855788 rs61855788 1 1538 10 1/0 0,221,255 +rs781789106 10 46321555 G C - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution missense exon GRCh37 46321555 46321555 Chr10(GRCh37):g.46321555G>C 1869 1869 NM_001276343.2:c.1869C>G p.Asp623Glu p.Asp623Glu 8 1284 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 0.000315 0.000000 0.000604 0.000000 0.000825 0.000000 0.000184 0.000873 0.000832 0.000873 13 0 4 0 4 0 3 1 1 41244 7270 6622 792 4848 3078 16286 1146 1202 0.000048 0.000000 0.000000 0.000000 0.000413 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 9 0 4 0 2 0 1 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4417469 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C G C>G 1.000 0.690 D Asp GAC 0.539 E Glu GAG 0.583 623 13 10 C. elegans 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 223.67 0.00 Tolerated 0.24 III.13 217 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.C1800G:p.D600E . . . . 0.20454545 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.387 . @ . . . . . 1 0.246 . . 88.0 . . . . . . . . . . -0.8196 -1.079 -0.820 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . . @ . . . 0.47 0.44 182 ENSG00000188234 AGAP4 AGAP4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.410 . . . . T 0.199 0.007 . . 37 . 0.396 . . 0.496 . . . 0.368 0.325 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.558 . . 0 0 0 0 0 0 . 0.764 . . 0.916 . . . . . . 0 0.353 . . . . . 0.116 . 0.260 . HET 0.1 . . . . . . . . . . . . . IV.74 . . . . . 0.020000 . . . . . . 0.253 . . . 0 0.0003 0.0006 0 0.0007 0 0 0.0011 0 0 0.0004 0 0 0.0017 0.0013 0.0005 0 . . 0.558 . -1.657 -1.657000 . . 0.020000 . . 1.0E-217 1.000 0.715 . 0.198 0.810 . 0.207 . 0.247 -1.657 -0.230 . rs61850063 rs61850063 rs61850063 rs61850063 1 1538 10 1/0 0,241,255 +. 10 46321582 C A - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution missense exon GRCh37 46321582 46321582 Chr10(GRCh37):g.46321582C>A 1842 1842 NM_001276343.2:c.1842G>T p.Glu614Asp p.Glu614Asp 8 1257 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 0.000182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000402 0.000000 0.000000 0.000402 3 0 0 0 0 0 3 0 0 16460 5566 534 136 812 0 7454 1502 456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 26 Genomes transversion G T G>T 1.000 1.497 E Glu GAG 0.583 D Asp GAT 0.461 614 13 8 Zebrafish 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 263.50 XI.33 Tolerated 0.51 III.13 183 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.G1773T:p.E591D . . . . 0.12087912 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.297 . @ . . . . . 1 0.075 . . 91.0 . . . . . . . . . . -0.8034 -0.903 -0.803 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.610 . . exonic exonic exonic . . . @ . . . . . . ENSG00000188234 AGAP4 AGAP4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.278 0.011 . . 37 . 0.389 . . 0.438 . . . 0.011 0.348 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.468 . . 0 0 0 0 0 0 . 0.615 . . 0.807 . . . . . . 0 0.111 . . . . . 0.180 . 0.174 . LowAF 0.37 . . . . . . . . . . . . . V.89 . . . . . 0.460000 . . . . . . 0.270 . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0004 0 . . 0.558 . 0.107 0.107000 . . 0.460000 . . 1.0E-183 1.000 0.715 . 0.134 0.967 . 0.240 . 0.016 0.107 0.537 . . . . . 1 1538 10 1/0 0,232,255 +rs4043106 10 46321912 T A - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution synonymous exon GRCh37 46321912 46321912 Chr10(GRCh37):g.46321912T>A 1512 1512 NM_001276343.2:c.1512A>T p.Gly504= p.Gly504Gly 8 927 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 New Donor Site 46321914 7.90757 0.830159 71.3518 rs4043106 yes no Frequency 1 T 0.000000 0 0.000259 0.000116 0.000000 0.000000 0.000323 0.001428 0.000308 0.000000 0.000000 0.001428 15 1 0 0 2 5 7 0 0 57854 8650 10362 1194 6192 3502 22742 3550 1662 0.000069 0.000000 0.000000 0.000000 0.000323 0.000571 0.000000 0.000000 0.000000 2 0 0 0 1 1 0 0 0 11 1 0 0 0 3 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.988 -2.539 G Gly GGA 0.246 G Gly GGT 0.162 504 255 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.A1443T:p.G481G . . . . 0.55 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.8373 . . . . . . . . 3.283e-03 . . . 0 0.0222 . 0 . 0 0 1 0 0.0833 . . . 0 . 1 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.34 182 ENSG00000188234 AGAP4 AGAP4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0.0004 0 0.0003 0 0.0014 0.0002 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3881612 rs3881612 rs3881612 rs199639703 1 1538 10 1/0 0,255,255 +rs201624816 10 46322125 G T - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution synonymous exon GRCh37 46322125 46322125 Chr10(GRCh37):g.46322125G>T 1299 1299 NM_001276343.2:c.1299C>A p.Ala433= p.Ala433Ala 8 714 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 rs201624816 yes no Frequency/1000G 2 G 0.000000 0 0.000064 0.000000 0.000095 0.000000 0.000000 0.000000 0.000125 0.000000 0.000000 0.000125 4 0 1 0 0 0 3 0 0 62046 10458 10526 1176 6738 3472 23946 3910 1820 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000084 0.000000 0.000000 1 0 0 0 0 0 1 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.992 -0.360 A Ala GCC 0.403 A Ala GCA 0.226 433 244 PASS 0.04 0.07 0.08 0.1 0.05 . . . . . . ENSG00000188234:ENST00000448048:exon7:c.C1230A:p.A410A . . . . 0.29411766 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.4716 . . . . . . . . 3.264e-03 . . . . 0 . . . . . . . 0 . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.25 182 ENSG00000188234 AGAP4 AGAP4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201624816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.774e-05 0.0001 0 0 0 0.0002 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . 0.1 . rs71245233 rs71245233 rs201624816 1 1538 10 1/0 0,255,255 +. 10 46322589 C T - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution missense exon GRCh37 46322589 46322589 Chr10(GRCh37):g.46322589C>T 835 835 NM_001276343.2:c.835G>A p.Gly279Ser p.Gly279Ser 8 250 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 0.000610 0.001571 0.001751 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001751 14 4 10 0 0 0 0 0 0 22968 2546 5712 514 3104 1848 7958 614 672 0.000087 0.000786 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 12 2 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 2.950 G Gly GGC 0.342 S Ser AGC 0.243 279 13 12 C. elegans 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 206.04 29.56 Deleterious 0 III.36 176 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.G766A:p.G256S . . . . 0.10526316 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.283 . @ . . . . . 1 0.197 . . 152.0 . . . . . . . . . . -0.5687 -0.718 -0.569 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.599 . . exonic exonic exonic . . . @ . . . . . . ENSG00000188234 AGAP4 AGAP4 . . . 0.000 0.070 . . . . . . . Uncertain_significance . 0 . 0.559 . . . . T 0.188 0.007 . . 37 . 0.558 . . 0.540 . . . 0.646 0.461 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.734 . . 0 0 0 0 0 0 . 0.899 . . 0.754 . . . . . . 0 0.501 . . . . . 0.178 . 0.249 . LowAF 0.02 . . . . . . . . . . . . . 5.844 . . . . . 0.010000 . . . . . . 0.284 . . . 0.0017 0.0006 0.0018 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.558 . 0.064 0.064000 . . 0.010000 . . 1.0E-176 1.000 0.715 . 0.259 0.784 . 0.657 . 0.246 0.064 0.542 . . . . . 1 1538 10 1/0 0,208,255 +rs782252245 10 46322682 T C - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution missense exon GRCh37 46322682 46322682 Chr10(GRCh37):g.46322682T>C 742 742 NM_001276343.2:c.742A>G p.Met248Val p.Met248Val 8 157 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 Cryptic Donor Strongly Activated 46322687 0.002179 55.2117 3.15872 0.024839 67.3633 rs782252245 no no 0 T 0.000000 0 0.003174 0.016717 0.001333 0.000000 0.002016 0.006803 0.000451 0.000000 0.004274 0.016717 24 11 3 0 2 6 1 0 1 7562 658 2250 122 992 882 2218 206 234 0.000264 0.000000 0.000000 0.000000 0.000000 0.002268 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 22 11 3 0 2 4 1 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 1.000 2.385 M Met ATG 1.000 V Val GTG 0.468 248 13 2 Chimp 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 257.76 0.00 Tolerated 0.06 III.36 184 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.A673G:p.M225V . . . . 0.12244898 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.015 . . 98.0 . . . . . . . . . . -0.9148 -0.958 -0.915 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.449 . . exonic exonic exonic . . . @ . . . 0.46 0.4 182 ENSG00000188234 AGAP4 AGAP4 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . T 0.043 0.002 . . 37 . 0.306 . . 0.097 . . . 0.065 0.212 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.307 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.257 . . . . . 0.112 . 0.210 . LowAF 0.03 rs782252245 . . . . . . . . . . . . IV.78 . . . . . 0.230000 . . . . . . 0.251 . . . 0.0173 0.0033 0.0013 0 0.0020 0 0.0005 0.0044 0.0068 0 0 0 . . 0 0 0 . . 0.558 . 0.056 0.056000 . . 0.230000 . . 9.999999999999999E-185 1.000 0.715 . 0.152 0.626 . 0.482 . 0.248 0.056 0.615 . rs61855788 rs61855788 rs61855788 rs61855788 1 1538 10 1/0 0,229,255 +. 10 46326887 GA G - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 deletion intron GRCh37 46326888 46326888 Chr10(GRCh37):g.46326888del 498-11 498-11 NM_001276343.2:c.498-11del p.? p.? 6 5 -11 3' 86.7372 IX.61 0.95434 7.82107 86.7372 9.62505 0.935161 7.1019 0.00658769 T 255 Pass . . . . . . . . . . . . . . . . 0.43589744 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000188234 AGAP4 AGAP4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,36 +. (chr10:46568147 T/C) 10 46568147 T C Not on a known gene +rs774935856 (chr10:46673494 C/G) 10 46673494 C G No Alamut gene - other known genes: FRMPDP2 FRMPDP2 +rs61855614 (chr10:46729923 A/G) 10 46729923 A G No Alamut gene - other known genes: CTGLF8P CTGLF8P +. 10 46898090 A T - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46898090 46898090 Chr10(GRCh37):g.46898090A>T 2841 2841 NR_027632.1:n.2841T>A 7 1081 3' 0 0 0 0 0 0 0 0 0 transversion T A T>A 0.000 0.367 204 PASS . . . . . . . . . . . . . . . . 0.17142858 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R150S|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . -0.0058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000165874 . FAM35BP . dist\x3d129744\x3bdist\x3d16497 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 10 46898472 A G - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46898472 46898472 Chr10(GRCh37):g.46898472A>G 2459 2459 NR_027632.1:n.2459T>C 7 699 3' 0 0 0 0 0 0 0 0 0 transition T C T>C 0.055 -0.037 233 PASS . . . . . . . . . . . . . . . . 0.25925925 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T278A|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . 0.0645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000165874 . FAM35BP . dist\x3d130126\x3bdist\x3d16115 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 46898623 C T - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46898623 46898623 Chr10(GRCh37):g.46898623C>T 2308 2308 NR_027632.1:n.2308G>A 7 548 3' 0 0 0 0 0 0 0 0 0 transition G A G>A 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 34.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S328L|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . 0.1767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000165874 . FAM35BP . dist\x3d130277\x3bdist\x3d15964 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 46898856 GT G - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 deletion exon GRCh37 46898857 46898857 Chr10(GRCh37):g.46898857del 2074 2074 NR_027632.1:n.2074del 7 314 3' 0 0 0 0 0 0 0 0 0 A 255 Pass . . . . . . . . . . . . . . . . 0.9444444 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 18 . . FRAME_SHIFT(HIGH||||FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . . . . . . . . ENSG00000165874 . FAM35BP . dist\x3d130511\x3bdist\x3d15730 . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,126,255 +rs4925982 10 46899162 T G - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46899162 46899162 Chr10(GRCh37):g.46899162T>G 1769 1769 NR_027632.1:n.1769A>C 7 9 3' 0 0 0 0 0 0 0 0 0 rs4925982 no no 0 T 0.000000 0 transversion A C A>C 0.921 1.981 242 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 17.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Gac|Y508D|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . 0.8504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.72 0.63 182 ENSG00000165874 . FAM35BP . dist\x3d130816\x3bdist\x3d15425 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs4925982 rs4925982 rs4925982 rs4925982 1 1538 10 1/0 0,255,255 +rs576121314 10 46918609 G A - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46918609 46918609 Chr10(GRCh37):g.46918609G>A 1379 1379 NR_027632.1:n.1379C>T 4 57 3' 0 0 0 0 0 0 0 0 0 rs576121314 yes no Frequency/1000G 2 G 0.002796 A 14 0.002796 0.010600 0.000000 0.000000 0.000000 0.000000 0.001350 0.011109 0.000842 0.000000 0.000000 0.000229 0.000049 0.000000 0.000367 0.011109 139 123 11 0 0 2 2 0 1 102978 11072 13058 3164 9134 8730 40730 14366 2724 0.000136 0.001264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 7 7 0 0 0 0 0 0 0 125 109 11 0 0 2 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.609 218 PASS . . . . . 0.011 0.0028 . . . . . FAM35BP:uc010qfo.2:exon3:c.G39A:p.A13A . . . 0.21212122 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 33.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A638T|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.4) . . . . . . . 0.6451 . . . . . . . . 4.413e-04 . . . 0.0146 0.0021 0 0 0 0 0 0 0.0201 0.0029 0 0 0 0 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0028 . . . 0.49 0.34 182 ENSG00000165874 FAM35BP FAM35BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0114 0.0010 0.0008 0 0 0 0 0.0005 0.0002 0.0108 0.0031 0.0027 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs75955378 rs75955378 1 1538 10 1/0 0,255,255 +rs140015219 10 46999209 G A - GPRIN2 23730 G protein regulated inducer of neurite outgrowth 2 NM_014696.4 1 6898 1377 NP_055511.2 O60269 substitution missense exon GRCh37 46999209 46999209 Chr10(GRCh37):g.46999209G>A 329 329 NM_014696.4:c.329G>A p.Arg110Gln p.Arg110Gln 3 611240 335 3' 93.2095 XII.27 0.993568 17.5372 93.2095 XII.27 0.993568 17.5372 0 New Acceptor Site 46999211 X.55 0.694303 86.6935 rs140015219 yes no Frequency/1000G 2 G 0.000000 0 0.003732 0.000973 0.001811 0.000501 0.000106 0.001341 0.005373 0.007742 0.004260 0.007742 1012 23 62 5 2 41 660 192 27 271178 23630 34230 9980 18794 30580 122826 24800 6338 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1012 23 62 5 2 41 660 192 27 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8549 4399 12948 35 3 38 0.00407735 0.000681508 0.00292623 0.00407735 0.000681508 0.00292623 29 transition G A G>A 0.024 0.205 R Arg CGG 0.207 Q Gln CAG 0.744 110 12 7 Dog 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.37 III.14 236 PASS . 0.01 0.02 . 0.01 . . . . . . . . GPRIN2:NM_014696:exon3:c.G329A:p.R110Q . . 0.26050422 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 238.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R110Q|GPRIN2|mRNA|CODING|NM_014696|NM_014696.ex.3) 0.0007 0.0029 0.0041 0.0007 0.0029 0.0041 . -0.9191 -0.881 -0.919 c . . . . . 5.553e-03 . . . 0.0012 0.0043 0.0021 0 0.0110 0.0065 0.0074 0.0020 0.0010 0.0055 0.0020 0.0001 0.0101 0.0081 0.0118 0.0020 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.200 @ . . . 0.26 0.43 182 ENSG00000204175 GPRIN2 GPRIN2 . . . 1.000 0.747 . 22 0.000338587 64976 20 0.000333411 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.258 . . . HET 0.4 rs140015219 . 0.022 . . . . . 0.007326007326007326 0.0 0.016574585635359115 0.0 0.013192612137203167 VII.37 0.001072 . 5.XI I.18 . 0.580000 O60269 . . . 0.002926 . . . . . 0.0007 0.0037 0.0017 0.0005 0.0001 0.0078 0.0054 0.0043 0.0013 0.0014 0.0041 0.0048 0 0 0.0075 0.0054 0.0041 . . 0.522 . 0.131 0.131000 . . 0.580000 . . 1.0E-236 0.000 0.063 . 0.289 . . 0.112 . 0.490 0.131 . 0.02 . . rs140015219 rs140015219 1 1538 10 1/0 0,203,255 +rs61842808 (chr10:47192426 A/G) 10 47192426 A G No Alamut gene - other known genes: AGAP10 AGAP10 +rs200285110 (chr10:47213368 T/C) 10 47213368 T C No Alamut gene - other known genes: AGAP10 AGAP10 +. 10 47239225 C T - BMS1P2 23650 BMS1 pseudogene 2 NR_072978.1 -1 4704 0 substitution intron GRCh37 47239225 47239225 Chr10(GRCh37):g.47239225C>T 524+68 524+68 NR_072978.1:n.524+68G>A p.? p.? 4 4 68 5' 91.4889 X.58 0.994113 7.09697 91.4889 X.58 0.994113 7.45673 0 transition G A G>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5135135 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||BMS1P6|Non-coding_transcript|NON_CODING|NR_024495.2|) . . . . . . . -0.4426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . BMS1P6 BMS1P6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 47239225 C T - BMS1P6 23654 BMS1 pseudogene 6 NR_024495.2 -1 4704 0 substitution intron GRCh37 47239225 47239225 Chr10(GRCh37):g.47239225C>T 524+68 524+68 NR_024495.2:n.524+68G>A p.? p.? 4 4 68 5' 91.4889 X.58 0.994113 7.09697 91.4889 X.58 0.994113 7.45673 0 transition G A G>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5135135 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||BMS1P6|Non-coding_transcript|NON_CODING|NR_024495.2|) . . . . . . . -0.4426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . BMS1P6 BMS1P6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 47380551 A G - FAM35DP 34038 Family with sequence similarity 35, member D, pseudogene NR_027634.1 1 3294 0 substitution exon GRCh37 47380551 47380551 Chr10(GRCh37):g.47380551A>G 832 832 NR_027634.1:n.832A>G 1 -699 5' 81.6581 8.48112 0.907988 0 81.6581 8.48112 0.907988 0 0 0.000150 0.000000 0.000000 0.000000 0.000734 0.000000 0.000240 0.000000 0.000000 0.000734 4 0 0 0 1 0 3 0 0 26668 7856 718 214 1362 0 12492 3230 796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 26 Genomes transition A G A>G 0.102 -0.037 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T278A|FAM35DP|Non-coding_transcript|NON_CODING|NR_027634|NR_027634.ex.1) . . . . . . . 0.0995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000189014 . FAM35DP . dist\x3d107120\x3bdist\x3d16108 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0.0007 0 0.0002 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 47752608 C T - ANXA8L1 23334 Annexin A8-like 1 NM_001098845.2 1 2100 984 NP_001092315.2 Q5VT79 substitution intron GRCh37 47752608 47752608 Chr10(GRCh37):g.47752608C>T 207+109 207+109 NM_001098845.2:c.207+109C>T p.? p.? 3 3 109 5' 91.977 0 0 0 91.977 0 0 0 0 Cryptic Donor Weakly Activated 47752606 58.1985 0.392614 0.105725 63.3834 0.000032 0.000241 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000241 1 1 0 0 0 0 0 0 0 31624 4148 7576 800 2040 3406 12138 486 1030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transition C T C>T 0.000 -1.570 255 PASS . . . . . . . . . . . . ANXA8L2:uc009xnh.1:exon3:c.C316T:p.Q106X . . . 0.5 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . -0.2821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . intronic exonic intronic . . . @ . . . 0.35 0.38 182 . ANXA8L2 ANXA8L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 3.162e-05 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3879567 rs3879567 rs3879567 rs3879567 1 1538 10 1/0 0,255,255 +. (chr10:47769740 C/CA) 10 47769740 C CA Not on a known gene +rs61842952 (chr10:47769742 T/C) 10 47769742 T C Not on a known gene +rs2338327 (chr10:47910971 T/C) 10 47910971 T C Not on a known gene +. (chr10:48190125 G/A) 10 48190125 G A Not on a known gene +. 10 48215982 A G - AGAP9 23463 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 NM_001190810.1 1 2387 1977 NP_001177739.1 substitution synonymous exon GRCh37 48215982 48215982 Chr10(GRCh37):g.48215982A>G 147 147 NM_001190810.1:c.147A>G p.Val49= p.Val49Val 1 -77 5' 94.6745 X.23 0.998485 9.41157 94.6745 X.23 0.998485 9.68031 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.008 0.044 V Val GTA 0.114 V Val GTG 0.468 49 203 PASS . . . . . . . . . . . . AGAP9:uc009xnl.2:exon1:c.A147G:p.V49V AGAP9:NM_001190810:exon1:c.A147G:p.V49V . . 0.17073171 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V49|AGAP9|mRNA|CODING|NM_001190810.2|NM_001190810.2.ex.1) . . . . . . . -0.7839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.27 182 ENSG00000198035 AGAP9 AGAP9 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . III.63 . ENST00000432490 1.II 0.00828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.028 0.028000 . . . . . 1.0E-203 . . . . . . . . . 0.028 . . rs17357361 rs17357361 rs17357361 rs17357361 1 1538 10 1/0 0,255,255 +. 10 48216061 A G - AGAP9 23463 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 NM_001190810.1 1 2387 1977 NP_001177739.1 substitution splice site GRCh37 48216061 48216061 Chr10(GRCh37):g.48216061A>G 223+3 223+3 NM_001190810.1:c.223+3A>G p.? p.? 1 1 3 5' 94.6745 X.23 0.998485 9.41157 90.3122 9.15773 0.991813 7.82909 -0.0605374 transition A G A>G 0.709 -0.521 207 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||AGAP9|mRNA|CODING|NM_001190810.2|) . . . . . . . 0.1398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.25 182 ENSG00000198035 AGAP9 AGAP9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs188982343 rs188982343 1 1538 10 1/0 0,255,255 +. 10 48236926 T C - AGAP9 23463 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 NM_001190810.1 1 2387 1977 NP_001177739.1 substitution missense exon GRCh37 48236926 48236926 Chr10(GRCh37):g.48236926T>C 1693 1693 NM_001190810.1:c.1693T>C p.Trp565Arg p.Trp565Arg 8 1108 3' 85.2526 X.57 0.95832 9.25671 85.2526 X.57 0.95832 9.25671 0 Cryptic Donor Strongly Activated 48236927 0.007711 64.5877 1.31536 0.013096 64.1846 Arf GTPase activating protein transition T C T>C 1.000 1.658 W Trp TGG 1.000 R Arg CGG 0.207 565 12 2 Macaque -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 353.86 0.00 Tolerated 1 III.32 good 9.906E-1 0.03157 239 PASS . . . . . . . . . . . . AGAP9:uc009xnl.2:exon8:c.T1693C:p.W565R AGAP9:NM_001190810:exon8:c.T1693C:p.W565R . . 0.27102804 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W565R|AGAP9|mRNA|CODING|NM_001190810.2|NM_001190810.2.ex.8) . . . . . . . -1.5858 -1.477 -1.586 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.41 182 ENSG00000198035 AGAP9 AGAP9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.974 0.687 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.047 . . . HET 1 . . . . . . . . . . . . . II.05 . . . . . 1.000000 D3YTF3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.093 0.093000 . . 1.000000 . . 1.0E-239 1.000 0.715 . 0.043 . . 0.336 . 0.002 0.093 . . rs1047435 rs1047435 rs1047435 rs1047435 1 1538 10 1/0 0,240,255 +. (chr10:48277790 C/G) 10 48277790 C G Not on a known gene +. (chr10:48278068 C/CA) 10 48278068 C CA Not on a known gene +. (chr10:48278070 T/C) 10 48278070 T C Not on a known gene +. 10 48860393 C G - FRMPD2B 16843 FERM and PDZ domain containing 2B, pseudogene NR_033172.1 -1 1947 0 substitution intron GRCh37 48860393 48860393 Chr10(GRCh37):g.48860393C>G 476+43 476+43 NR_033172.1:n.476+43G>C p.? p.? 2 2 43 5' 81.491 7.22671 0.79781 II.19 81.491 7.22671 0.79781 2.28774 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion G C G>C 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||FRMPD2B|Non-coding_transcript|NON_CODING|NR_033172|) . . . . . . . -0.2858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000197704 FRMPD2P1 FRMPD2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr10:49087840 A/T) 10 49087840 A T Not on a known gene +. (chr10:49088222 A/G) 10 49088222 A G Not on a known gene +. (chr10:49088373 C/T) 10 49088373 C T Not on a known gene +. (chr10:49088606 GT/G) 10 49088606 GT G Not on a known gene +. (chr10:49088912 T/G) 10 49088912 T G Not on a known gene +rs374631622 10 50953568 G A - OGDHL 25590 Oxoglutarate dehydrogenase-like NM_001347819.1 -1 3652 3033 NP_001334748.1 Q9ULD0 substitution intron GRCh37 50953568 50953568 Chr10(GRCh37):g.50953568G>A 1477-26 1477-26 NM_001347819.1:c.1477-26C>T p.? p.? 12 11 617513 -26 3' 83.6461 X.44 0.950675 VII.12 83.6461 X.44 0.950675 7.49805 0 50953565 -13.8503 rs374631622 yes no Frequency 1 G 0.000000 0 0.000291 0.000000 0.000000 0.000000 0.000000 0.000000 0.000619 0.000081 0.000000 0.000619 80 0 0 0 0 0 78 2 0 275220 24030 34404 10106 18864 30740 126054 24578 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 0 0 0 0 0 78 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 51 transition C T C>T 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . 0.1994 . . . . . . . . 3.236e-04 . . . 0 0.0003 0 0 0 0.0005 0 0 0 0.0003 0 0 0.0003 0.0006 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.18 182 ENSG00000197444 OGDHL OGDHL . . . . . . 18 0.000277025 64976 18 0.00030007 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374631622 . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0 0.0003 0 0 0 9.486e-05 0.0006 0 0 0 0.0002 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 . . rs374631622 . 1 1538 10 1/0 0,250,255 +rs138163999 10 51093134 C G - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51093134 51093134 Chr10(GRCh37):g.51093134C>G 1830+115 1830+115 NM_003631.2:c.1830+115G>C p.? p.? 8 8 603501 115 5' 90.1244 8.02288 0.969954 0 90.1244 8.02288 0.969954 0 0 rs138163999 yes no Frequency/1000G 2 C 0.000000 0 0.012580 0.034000 0.010200 0.004000 0.001000 0.004300 0.007249 0.023831 0.000000 0.000000 0.003722 0.000000 0.000467 0.000287 0.003061 0.023831 224 207 0 0 6 0 7 1 3 30900 8686 834 302 1612 0 14996 3490 980 0.008929 0.009662 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 220 203 0 0 6 0 7 1 3 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion G C G>C 0.008 -1.247 255 PASS 0.05 0.01 0.01 0.0017 . 0.034 0.013 0.0043 0.004 0.001 0.01 . . . . . 0.4117647 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . -0.6596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0126 . . . 0.31 0.23 182 ENSG00000227345 PARG PARG . . . . . . 154 0.00237011 64976 96 0.00160037 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0238 0.0072 0 0 0.0037 0.0003 0.0005 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.05 . . rs138163999 rs138163999 1 1538 10 1/0 0,255,255 +. 10 51226309 T C - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51226309 51226309 Chr10(GRCh37):g.51226309T>C 1456-95594 1456-95594 NM_003631.2:c.1456-95594A>G p.? p.? 5 4 603501 -95594 3' 81.3569 X.15 0.715355 3.56555 81.3569 X.15 0.715355 3.56555 0 Cryptic Donor Strongly Activated 51226314 0.002179 55.2117 3.15872 0.024839 67.3633 0.000780 0.000000 0.001104 0.000000 0.000000 0.001715 0.000000 0.004545 0.000000 0.004545 4 0 1 0 0 2 0 1 0 5130 340 906 90 346 1166 1894 220 168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424181 Haematopoietic and lymphoid tissue 0.001133 3530 transition A G A>G 1.000 2.385 246 PASS . . . . . . . . . . . . . . . . 0.29357797 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.9797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . @ . . . 0.36 0.33 182 ENSG00000174194 AGAP8 PARG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.58 . . . . . 0.230000 . . . . . . . . . . 0 0.0006 0.0011 0 0 0 0 0 0.0017 0 0.0041 0 . 0 0.0089 0 0 . . . . 0.000 0.000000 . . 0.230000 . . 1.0E-246 . . . . . . . . . 0.000 . . rs61855788 rs61855788 rs61855788 rs61855788 1 1538 10 1/0 0,240,255 +. 10 51227102 C T - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51227102 51227102 Chr10(GRCh37):g.51227102C>T 1456-96387 1456-96387 NM_003631.2:c.1456-96387G>A p.? p.? 5 4 603501 -96387 3' 81.3569 X.15 0.715355 3.56555 81.3569 X.15 0.715355 3.56555 0 New Acceptor Site 51227100 4.74271 0.013392 77.4818 0.002191 0.001921 0.002194 0.003636 0.001814 0.001342 0.002869 0.000000 0.003311 0.003636 44 3 10 2 6 5 16 0 2 20084 1562 4558 550 3308 3726 5576 200 604 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 3 10 2 6 5 16 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4418012 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.992 -0.117 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . 0.3578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . @ . . . 0.4 0.33 182 ENSG00000174194 AGAP8 PARG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.5861 0.65 . . . . . . . 0.0019 0.0022 0.0022 0.0037 0.0018 0 0.0028 0.0033 0.0013 0 0.0057 0 0 0 . 0.0067 0 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs3926203 rs3926203 rs3926203 rs3926203 1 1538 10 1/0 0,255,255 +. 10 51246201 C T - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51246201 51246201 Chr10(GRCh37):g.51246201C>T 1456-115486 1456-115486 NM_003631.2:c.1456-115486G>A p.? p.? 5 4 603501 -115486 3' 81.3569 X.15 0.715355 3.56555 81.3569 X.15 0.715355 3.56555 0 New Acceptor Site 51246199 5.02175 0.005493 75.5934 0.000165 0.000000 0.000000 0.000000 0.000000 0.000368 0.000308 0.000000 0.000000 0.000368 6 0 0 0 0 2 4 0 0 36424 4276 5640 870 5684 5428 12990 486 1050 0.500000 0.000000 0.000000 0.000000 0.000000 0.500000 0.500000 0.000000 0.000000 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 82 Exomes transition G A G>A 0.992 1.093 211 PASS . . . . . . . . . . . . . . . . 0.1904762 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.5665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . @ . . . 0.35 0.26 182 ENSG00000174194 AGAP8 PARG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.17 . . . . . . . . . . . . . VI.26 . ENST00000425119 I.38 I.38 . 0.090000 . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 0.0004 . . . . . . . . . . . . 1.090 1.090000 . . 0.090000 . . 1.0E-211 . . . . . . . . . 1.090 . . . . rs77235195 rs77235195 1 1538 10 1/0 0,255,255 +. 10 51246318 A G - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51246318 51246318 Chr10(GRCh37):g.51246318A>G 1455+115409 1455+115409 NM_003631.2:c.1455+115409T>C p.? p.? 4 4 603501 115409 5' 80.9586 8.53199 0.958882 7.14296 80.9586 8.53199 0.958882 7.14296 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1408 354 52 8 36 0 508 400 50 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 104 Genomes transition T C T>C 0.236 0.044 218 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -1.0599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . @ . . . . . . ENSG00000174194 AGAP8 PARG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.11 . . . . . . . . . . . . . III.72 . ENST00000425119 I.38 0.143 . 0.130000 . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . 0.036 0.036000 . . 0.130000 . . 1.0E-218 . . . . . . . . . 0.036 . . . . . . 1 1538 10 1/0 0,255,255 +. (chr10:51363169 T/C) 10 51363169 T C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363169 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363169 51363169 Chr10(GRCh37):g.51363169T>C 213-1259 213-1259 NR_029388.2:n.213-1259A>G p.? p.? 2 1 -1259 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000462 0.000000 0.001989 0.000000 0.000000 0.001170 0.000000 0.000000 0.001767 0.001989 21 0 8 0 0 11 0 0 2 45424 976 4022 2100 4106 9404 17352 6332 1132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 0 8 0 0 11 0 0 2 0 0 0 0 0 0 0 0 0 RF 42 Exomes transition A G A>G 0.472 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 153.0 . . . . . . . . . . 0.4863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.65 0.56 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0020 0 0 0 0 0.0018 0.0012 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11510886 rs11510886 rs11510886 rs11510886 1 1538 10 1/0 0,234,250 +. (chr10:51363227 A/G) 10 51363227 A G Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363227 A G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363227 51363227 Chr10(GRCh37):g.51363227A>G 213-1317 213-1317 NR_029388.2:n.213-1317T>C p.? p.? 2 1 -1317 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000476 0.000000 0.001493 0.000000 0.000227 0.001275 0.000000 0.000000 0.001147 0.001493 15 0 6 0 1 7 0 0 1 31486 1110 4020 1142 4408 5490 12380 2064 872 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 6 0 1 7 0 0 1 0 0 0 0 0 0 0 0 0 RF 52 Exomes transition T C T>C 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.47196263 . . @ 101 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 214.0 . . . . . . . . . . -0.0981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.56 0.46 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0015 0 0.0002 0 0 0.0011 0.0013 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11516609 rs11516609 rs11516609 rs11516609 1 1538 10 1/0 0,222,238 +. (chr10:51363249 A/G) 10 51363249 A G Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363249 A G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363249 51363249 Chr10(GRCh37):g.51363249A>G 213-1339 213-1339 NR_029388.2:n.213-1339T>C p.? p.? 2 1 -1339 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000444 0.000000 0.001694 0.000000 0.000000 0.000996 0.000086 0.000000 0.000000 0.001694 13 0 7 0 0 5 1 0 0 29280 1146 4132 1036 4484 5018 11592 1026 846 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 7 0 0 5 1 0 0 0 0 0 0 0 0 0 0 0 RF 53 Exomes transition T C T>C 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.47706422 . . @ 104 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 218.0 . . . . . . . . . . -0.1107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.57 0.41 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0.0017 0 0 0 8.627e-05 0 0.0010 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11510885 rs11510885 rs11510885 rs11510885 1 1538 10 1/0 0,223,241 +. (chr10:51363294 T/C) 10 51363294 T C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363294 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363294 51363294 Chr10(GRCh37):g.51363294T>C 213-1384 213-1384 NR_029388.2:n.213-1384A>G p.? p.? 2 1 -1384 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24732 1044 3530 734 4198 4262 9786 420 758 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 51 Exomes transition A G A>G 1.000 1.658 255 PASS . . . . . . . . . . . . . . . . 0.4826389 . . @ 139 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 288.0 . . . . . . . . . . 0.9637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.64 0.57 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.66 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4641415 rs4641415 rs4641415 rs4641415 1 1538 10 1/0 0,211,227 +. (chr10:51363304 G/A) 10 51363304 G A Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363304 G A - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363304 51363304 Chr10(GRCh37):g.51363304G>A 213-1394 213-1394 NR_029388.2:n.213-1394C>T p.? p.? 2 1 -1394 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000217 0.000000 0.000000 0.000000 0.000000 0.001221 0.000000 0.000000 0.000000 0.001221 5 0 0 0 0 5 0 0 0 23022 984 3212 670 3970 4094 9000 384 708 0.200000 0.000000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes transition C T C>T 0.709 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.4733096 . . @ 133 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 281.0 . . . . . . . . . . 0.2201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.62 0.47 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0 0 0.0012 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4400754 rs4400754 rs4400754 rs4400754 1 1538 10 1/0 0,212,231 +. (chr10:51363348 G/C) 10 51363348 G C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363348 G C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363348 51363348 Chr10(GRCh37):g.51363348G>C 213-1438 213-1438 NR_029388.2:n.213-1438C>G p.? p.? 2 1 -1438 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23546 1064 3140 664 4186 4110 9312 336 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes transversion C G C>G 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.45692885 . . @ 122 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 267.0 . . . . . . . . . . 0.3552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.55 0.35 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4400753 rs4400753 rs4400753 rs4400753 1 1538 10 1/0 0,215,242 +. (chr10:51363391 G/C) 10 51363391 G C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363391 G C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363391 51363391 Chr10(GRCh37):g.51363391G>C 213-1481 213-1481 NR_029388.2:n.213-1481C>G p.? p.? 2 1 -1481 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000041 0.000000 0.000000 0.000000 0.000000 0.000241 0.000000 0.000000 0.000000 0.000241 1 0 0 0 0 1 0 0 0 24490 1080 3110 716 4380 4152 9968 348 736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Exomes COSM3931071 Urinary tract 0.001488 672 transversion C G C>G 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.46320346 . . @ 107 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 231.0 . . . . . . . . . . 0.2277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.62 0.4 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3931071\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . 2.I 0 4.083e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4400752 rs4400752 rs4400752 rs4400752 1 1538 10 1/0 0,223,252 +. 10 51363403 C T - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution synonymous exon GRCh37 51363403 51363403 Chr10(GRCh37):g.51363403C>T 669 669 NM_003631.2:c.669G>A p.Thr223= p.Thr223Thr 3 603501 385 3' 82.1118 X.53 0.98414 6.15117 82.1118 X.53 0.98414 6.15117 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23950 1080 2916 700 4330 4022 9848 342 712 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM3931072 Urinary tract 0.001488 672 transition G A G>A 0.008 -0.279 T Thr ACG 0.116 T Thr ACA 0.280 223 255 PASS . . . . . . . . . . . . . . . . 0.5023474 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 213.0 . . . . . . . . . . 0.1918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.65 0.44 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3931072\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4508161 rs4508161 rs4508161 rs4508161 1 1538 10 1/0 0,230,253 +. 10 51363403 C T - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363403 51363403 Chr10(GRCh37):g.51363403C>T 213-1493 213-1493 NR_029388.2:n.213-1493G>A p.? p.? 2 1 -1493 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23950 1080 2916 700 4330 4022 9848 342 712 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM3931072 Urinary tract 0.001488 672 transition G A G>A 0.008 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.5023474 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 213.0 . . . . . . . . . . 0.1918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.65 0.44 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3931072\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4508161 rs4508161 rs4508161 rs4508161 1 1538 10 1/0 0,230,253 +. 10 51363491 T C - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution missense exon GRCh37 51363491 51363491 Chr10(GRCh37):g.51363491T>C 581 581 NM_003631.2:c.581A>G p.Asp194Gly p.Asp194Gly 3 603501 297 3' 82.1118 X.53 0.98414 6.15117 82.1118 X.53 0.98414 6.15117 0 New Donor Site 51363492 0.738575 0.209607 68.6486 transition A G A>G 1.000 1.255 D Asp GAT 0.461 G Gly GGT 0.162 194 14 8 Cow -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.37 III.51 unknown 0.0 0.0 217 PASS . . . . . . . . . . . . . . . . 0.20526315 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.211 . @ . . . . . 0 0.183 . . 190.0 . . . . . . . . . . I.67 0.299 1.247 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.409 @ . . . . . . ENSG00000225784 PARG PARG . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.263 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 6 . . . . . . 0.102 . 0.435 . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.269 . . III.66 . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-217 0.980 0.350 . 0.424 0.999 . 0.278 . 0.163 . 0.991 . . . . . 1 1538 10 1/0 0,208,255 +. 10 51363491 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363491 51363491 Chr10(GRCh37):g.51363491T>C 213-1581 213-1581 NR_029388.2:n.213-1581A>G p.? p.? 2 1 -1581 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 New Donor Site 51363492 0.738575 0.209607 68.6486 transition A G A>G 1.000 1.255 217 PASS . . . . . . . . . . . . . . . . 0.20526315 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.211 . @ . . . . . 0 0.183 . . 190.0 . . . . . . . . . . I.67 0.299 1.247 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.409 @ . . . . . . ENSG00000225784 PARG PARG . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.263 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 6 . . . . . . 0.102 . 0.435 . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.269 . . III.66 . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-217 0.980 0.350 . 0.424 0.999 . 0.278 . 0.163 . 0.991 . . . . . 1 1538 10 1/0 0,208,255 +. (chr10:51363659 A/G) 10 51363659 A G Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363659 A G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363659 51363659 Chr10(GRCh37):g.51363659A>G 213-1749 213-1749 NR_029388.2:n.213-1749T>C p.? p.? 2 1 -1749 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 COSM5021665 Bone 0.001757 569 transition T C T>C 0.654 1.577 255 PASS . . . . . . . . . . . . . . . . 0.5307692 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 130.0 . . . . . . . . . . 0.9306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.72 0.56 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4412715 rs4412715 rs4412715 rs4412715 1 1538 10 1/0 0,255,255 +. (chr10:51364707 G/T) 10 51364707 G T Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51364707 G T - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51364707 51364707 Chr10(GRCh37):g.51364707G>T 213-2797 213-2797 NR_029388.2:n.213-2797C>A p.? p.? 2 1 -2797 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM5428576 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 1.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.41025642 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 39.0 . . . . . . . . . . 0.5369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.58 0.4 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4362101 rs4362101 rs4362101 rs4362101 1 1538 10 1/0 0,255,255 +. (chr10:51364733 C/T) 10 51364733 C T Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51364733 C T - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51364733 51364733 Chr10(GRCh37):g.51364733C>T 213-2823 213-2823 NR_029388.2:n.213-2823G>A p.? p.? 2 1 -2823 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM5428577 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.992 1.255 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 36.0 . . . . . . . . . . 1.0833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.73 0.59 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4362100 rs4362100 rs4362100 rs4362100 1 1538 10 1/0 0,255,255 +. (chr10:51364758 T/C) 10 51364758 T C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51364758 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51364758 51364758 Chr10(GRCh37):g.51364758T>C 213-2848 213-2848 NR_029388.2:n.213-2848A>G p.? p.? 2 1 -2848 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM5428064 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 1.000 1.013 255 PASS . . . . . . . . . . . . . PARG:NM_003631:exon2:c.A231G:p.K77K . . 0.3888889 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 36.0 . . . . . . . . . . 0.8924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.71 0.51 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.86 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4542358 rs4542358 rs4542358 rs4542358 1 1538 10 1/0 0,255,255 +. 10 51364775 T TA - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 duplication splice site GRCh37 51364775 51364776 Chr10(GRCh37):g.51364776dup 218-5 218-5 NM_003631.2:c.218-5dup p.? p.? 2 1 603501 -4 3' 86.5899 6.06309 0.982649 2.91719 87.2784 7.51228 0.993878 3.88959 0.0861319 rs200352820 yes no Frequency/1000G 2 0.000000 0 T 255 Pass 0.95 0.97 0.95 0.98 0.98 . . . . . . . . . . . 0.36363637 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200352820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.98 . . rs200352820 rs200352820 1 1538 10 1.I 0,11,44 +. 10 51364775 T TA - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 duplication intron GRCh37 51364775 51364776 Chr10(GRCh37):g.51364776dup 213-2866 213-2866 NR_029388.2:n.213-2866dup p.? p.? 2 1 -2865 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 rs200352820 yes no Frequency/1000G 2 0.000000 0 T 255 Pass 0.95 0.97 0.95 0.98 0.98 . . . . . . . . . . . 0.36363637 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200352820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.98 . . rs200352820 rs200352820 1 1538 10 1.I 0,11,44 +. 10 51364805 C A - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51364805 51364805 Chr10(GRCh37):g.51364805C>A 218-34 218-34 NM_003631.2:c.218-34G>T p.? p.? 2 1 603501 -34 3' 86.5899 6.06309 0.982649 2.91719 86.5899 6.06309 0.982649 3.1376 0 Cryptic Acceptor Strongly Activated 51364800 4.29719 0.038159 85.341 VII.94 0.657766 89.0928 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G T G>T 0.008 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . 0.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.14 182 . LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4457707 rs4457707 rs4457707 rs4457707 1 1538 10 1/0 0,0,0 +. 10 51364805 C A - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51364805 51364805 Chr10(GRCh37):g.51364805C>A 213-2895 213-2895 NR_029388.2:n.213-2895G>T p.? p.? 2 1 -2895 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 Cryptic Acceptor Strongly Activated 51364800 4.29719 0.038159 85.341 VII.94 0.657766 89.0928 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G T G>T 0.008 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . 0.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.14 182 . LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4457707 rs4457707 rs4457707 rs4457707 1 1538 10 1/0 0,0,0 +. (chr10:51370889 T/C) 10 51370889 T C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51370889 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51370889 51370889 Chr10(GRCh37):g.51370889T>C 212+244 212+244 NR_029388.2:n.212+244A>G p.? p.? 1 1 244 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.79578 0 0.000121 0.000476 0.000000 0.000000 0.000142 0.000144 0.000095 0.000000 0.000000 0.000476 10 4 0 0 1 2 3 0 0 82378 8400 7380 2960 7024 13894 31734 8804 2182 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 1 0 0 0 0 0 1 0 0 8 4 0 0 1 2 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424468 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.921 -0.279 228 PASS . . . . . . . . . . . . . . . . 0.2345679 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 324.0 . . . . . . . . . . I.88 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.46 0.44 182 . PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 0.0001 0 0.0001 0.0005 0.0002 0 0 0.0013 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61848833 rs61848833 rs61848833 rs61848833 1 1538 10 1/0 0,188,255 +. 10 51370889 T C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution upstream GRCh37 51370889 51370889 Chr10(GRCh37):g.51370889T>C -652 -652 NM_001290117.1:c.-652T>C p.? p.? 1 -758 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 0.000121 0.000476 0.000000 0.000000 0.000142 0.000144 0.000095 0.000000 0.000000 0.000476 10 4 0 0 1 2 3 0 0 82378 8400 7380 2960 7024 13894 31734 8804 2182 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 1 0 0 0 0 0 1 0 0 8 4 0 0 1 2 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424468 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.921 -0.279 228 PASS . . . . . . . . . . . . . . . . 0.2345679 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 324.0 . . . . . . . . . . I.88 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.46 0.44 182 . PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 0.0001 0 0.0001 0.0005 0.0002 0 0 0.0013 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61848833 rs61848833 rs61848833 rs61848833 1 1538 10 1/0 0,188,255 +. 10 51371103 GC G - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 deletion 5'UTR GRCh37 51371104 51371104 Chr10(GRCh37):g.51371104del -34 -34 NM_003631.2:c.-34del p.? p.? 1 603501 -251 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 G 255 Pass . . . . . . . . . . . . . . . . 0.25827813 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67076457 rs67076457 rs67076457 1 1538 10 1.I 0,9,59 +. 10 51371103 GC G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 deletion intron GRCh37 51371104 51371104 Chr10(GRCh37):g.51371104del 212+29 212+29 NR_029388.2:n.212+29del p.? p.? 1 1 29 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.74609 0 G 255 Pass . . . . . . . . . . . . . . . . 0.25827813 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67076457 rs67076457 rs67076457 1 1538 10 1.I 0,9,59 +. 10 51371103 GC G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 deletion upstream GRCh37 51371107 51371107 Chr10(GRCh37):g.51371107del -434 -434 NM_001290117.1:c.-434del p.? p.? 1 -540 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 C 255 Pass . . . . . . . . . . . . . . . . 0.25827813 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67076457 rs67076457 rs67076457 1 1538 10 1.I 0,9,59 +. 10 51371122 AT A - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 deletion 5'UTR GRCh37 51371123 51371123 Chr10(GRCh37):g.51371123del -53 -53 NM_003631.2:c.-53del p.? p.? 1 603501 -270 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 A 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67809162 rs67809162 rs67809162 1 1538 10 1.I 0,11,48 +. 10 51371122 AT A - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 deletion intron GRCh37 51371123 51371123 Chr10(GRCh37):g.51371123del 212+10 212+10 NR_029388.2:n.212+10del p.? p.? 1 1 10 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 7.75556 0 A 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67809162 rs67809162 rs67809162 1 1538 10 1.I 0,11,48 +. 10 51371122 AT A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 deletion upstream GRCh37 51371125 51371125 Chr10(GRCh37):g.51371125del -416 -416 NM_001290117.1:c.-416del p.? p.? 1 -522 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 T 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67809162 rs67809162 rs67809162 1 1538 10 1.I 0,11,48 +. 10 51371131 A AC - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 duplication 5'UTR GRCh37 51371131 51371132 Chr10(GRCh37):g.51371132dup -62 -62 NM_003631.2:c.-62dup p.? p.? 1 603501 -278 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 New Donor Site 51371132 5.01732 0.942015 80.857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1456 352 24 12 76 0 730 214 48 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 103 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.3255814 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing splicing ncRNA_splicing . . . . . . . . . . ENSG00000244393\x3bENSG00000244393 PARG PARGP1 ENST00000399508:exon1:c.168+2->G uc009xoj.3:exon1:c.47+2->G NR_029388:exon1:c.212+2->G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +. 10 51371131 A AC - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 duplication splice site GRCh37 51371131 51371132 Chr10(GRCh37):g.51371132dup 212+1 212+1 NR_029388.2:n.212+1dup p.? p.? 1 1 1 5' 90.1244 8.02288 0.975766 6.79578 0 0 0 0 -1 New Donor Site 51371132 5.01732 0.942015 80.857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1456 352 24 12 76 0 730 214 48 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 103 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.3255814 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing splicing ncRNA_splicing . . . . . . . . . . ENSG00000244393\x3bENSG00000244393 PARG PARGP1 ENST00000399508:exon1:c.168+2->G uc009xoj.3:exon1:c.47+2->G NR_029388:exon1:c.212+2->G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +. 10 51371131 A AC - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 duplication upstream GRCh37 51371133 51371134 Chr10(GRCh37):g.51371133dup -408 -408 NM_001290117.1:c.-408dup p.? p.? 1 -513 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1456 352 24 12 76 0 730 214 48 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 103 Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.3255814 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing splicing ncRNA_splicing . . . . . . . . . . ENSG00000244393\x3bENSG00000244393 PARG PARGP1 ENST00000399508:exon1:c.168+2->G uc009xoj.3:exon1:c.47+2->G NR_029388:exon1:c.212+2->G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +. 10 51371153 G C - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution 5'UTR GRCh37 51371153 51371153 Chr10(GRCh37):g.51371153G>C -83 -83 NM_003631.2:c.-83C>G p.? p.? 1 603501 -300 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1994 478 46 14 84 0 888 422 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 82 Genomes transversion C G C>G 0.630 0.205 255 PASS . . . . . . . . . . . . PARG:uc009xoj.3:exon1:c.C27G:p.D9E . . . 0.3275862 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . I.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.62 0.42 182 ENSG00000244393 PARG PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61848834 rs61848834 rs61848834 rs61848834 1 1538 10 1/0 0,240,255 +. 10 51371153 G C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution exon GRCh37 51371153 51371153 Chr10(GRCh37):g.51371153G>C 192 192 NR_029388.2:n.192C>G 1 -21 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.1032 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1994 478 46 14 84 0 888 422 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 82 Genomes transversion C G C>G 0.630 0.205 255 PASS . . . . . . . . . . . . PARG:uc009xoj.3:exon1:c.C27G:p.D9E . . . 0.3275862 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . I.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.62 0.42 182 ENSG00000244393 PARG PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61848834 rs61848834 rs61848834 rs61848834 1 1538 10 1/0 0,240,255 +. 10 51371153 G C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution upstream GRCh37 51371153 51371153 Chr10(GRCh37):g.51371153G>C -388 -388 NM_001290117.1:c.-388G>C p.? p.? 1 -494 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1994 478 46 14 84 0 888 422 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 82 Genomes transversion G C G>C 0.630 0.205 255 PASS . . . . . . . . . . . . PARG:uc009xoj.3:exon1:c.C27G:p.D9E . . . 0.3275862 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . I.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.62 0.42 182 ENSG00000244393 PARG PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61848834 rs61848834 rs61848834 rs61848834 1 1538 10 1/0 0,240,255 +. 10 51371565 A G - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution upstream GRCh37 51371565 51371565 Chr10(GRCh37):g.51371565A>G -495 -495 NM_003631.2:c.-495T>C p.? p.? 1 603501 -712 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000175 0.000000 0.000000 0.000175 1 0 0 0 0 0 1 0 0 13828 172 1224 354 460 2344 5706 3228 340 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 51 Exomes transition T C T>C 0.913 0.125 211 PASS . . . . . . . . . . . . . . . . 0.21097046 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 237.0 . . . . . . . . . . -0.7590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.73 0.63 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.15 . . . . . . . . . . . . . III.01 . . II.62 I.44 . 0.650000 . . . . . . . . . . 0 7.232e-05 0 0 0 0 0.0002 0 0 . . . . . . . . . . . . 0.247 0.247000 . . 0.650000 . . 1.0E-211 . . . . . . . . . 0.247 . . rs4935253 rs4935253 rs4935253 rs4935253 1 1538 10 1/0 0,200,255 +. 10 51371565 A G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution upstream GRCh37 51371565 51371565 Chr10(GRCh37):g.51371565A>G -221 -221 NR_029388.2:n.-221T>C p.? p.? 1 -433 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.79578 0 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000175 0.000000 0.000000 0.000175 1 0 0 0 0 0 1 0 0 13828 172 1224 354 460 2344 5706 3228 340 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 51 Exomes transition T C T>C 0.913 0.125 211 PASS . . . . . . . . . . . . . . . . 0.21097046 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 237.0 . . . . . . . . . . -0.7590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.73 0.63 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.15 . . . . . . . . . . . . . III.01 . . II.62 I.44 . 0.650000 . . . . . . . . . . 0 7.232e-05 0 0 0 0 0.0002 0 0 . . . . . . . . . . . . 0.247 0.247000 . . 0.650000 . . 1.0E-211 . . . . . . . . . 0.247 . . rs4935253 rs4935253 rs4935253 rs4935253 1 1538 10 1/0 0,200,255 +. (chr10:51371565 A/G) 10 51371565 A G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51371581 G T - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution upstream GRCh37 51371581 51371581 Chr10(GRCh37):g.51371581G>T -511 -511 NM_003631.2:c.-511C>A p.? p.? 1 603501 -728 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 0.000054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000119 0.000000 0.000000 0.000119 1 0 0 0 0 0 1 0 0 18358 258 1480 536 628 2912 8372 3724 448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.984 2.304 202 PASS . . . . . . . . . . . . . . . . 0.16479401 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 267.0 . . . . . . . . . . -0.2399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.62 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.13 . . . . . . . . . . . . . IX.15 . . II.62 1.VII . 0.200000 . . . . . . . . . . 0 5.794e-05 0 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . 0.441 0.441000 . . 0.200000 . . 1.0E-202 . . . . . . . . . 0.441 . . rs61847112 rs61847112 rs61847112 rs61847112 1 1538 10 1/0 0,190,255 +. 10 51371581 G T - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution upstream GRCh37 51371581 51371581 Chr10(GRCh37):g.51371581G>T -237 -237 NR_029388.2:n.-237C>A p.? p.? 1 -449 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.79578 0 0.000054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000119 0.000000 0.000000 0.000119 1 0 0 0 0 0 1 0 0 18358 258 1480 536 628 2912 8372 3724 448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.984 2.304 202 PASS . . . . . . . . . . . . . . . . 0.16479401 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 267.0 . . . . . . . . . . -0.2399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.62 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.13 . . . . . . . . . . . . . IX.15 . . II.62 1.VII . 0.200000 . . . . . . . . . . 0 5.794e-05 0 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . 0.441 0.441000 . . 0.200000 . . 1.0E-202 . . . . . . . . . 0.441 . . rs61847112 rs61847112 rs61847112 rs61847112 1 1538 10 1/0 0,190,255 +. (chr10:51371581 G/T) 10 51371581 G T Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +rs782610237 10 51371608 G A - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution upstream GRCh37 51371608 51371608 Chr10(GRCh37):g.51371608G>A -538 -538 NM_003631.2:c.-538C>T p.? p.? 1 603501 -755 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 rs782610237 yes no Frequency 1 G 0.000000 0 0.000048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000099 0.000000 0.000000 0.000099 1 0 0 0 0 0 1 0 0 20848 374 1530 636 648 3054 10070 4006 530 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.992 2.062 183 PASS . . . . . . . . . . . . . . . . 0.118705034 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 278.0 . . . . . . . . . . 0.1944 . . . . . . . . 3.542e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.67 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.04 rs782610237 . . . . . . ID\x3dCOSM3675786\x3bOCCURENCE\x3d1(urinary_tract) . . . . . XII.25 . . II.62 II.62 . 0.300000 . . . . . . . . . II.62 0 5.39e-05 0 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . 1.467 1.467000 . . 0.300000 . . 1.0E-183 . . . . . . . . . 1.467 . . rs4935252 rs4935252 rs4935252 rs4935252 1 1538 10 1/0 0,184,255 +rs782610237 10 51371608 G A - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution upstream GRCh37 51371608 51371608 Chr10(GRCh37):g.51371608G>A -264 -264 NR_029388.2:n.-264C>T p.? p.? 1 -476 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.79578 0 rs782610237 yes no Frequency 1 G 0.000000 0 0.000048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000099 0.000000 0.000000 0.000099 1 0 0 0 0 0 1 0 0 20848 374 1530 636 648 3054 10070 4006 530 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.992 2.062 183 PASS . . . . . . . . . . . . . . . . 0.118705034 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 278.0 . . . . . . . . . . 0.1944 . . . . . . . . 3.542e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.67 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.04 rs782610237 . . . . . . ID\x3dCOSM3675786\x3bOCCURENCE\x3d1(urinary_tract) . . . . . XII.25 . . II.62 II.62 . 0.300000 . . . . . . . . . II.62 0 5.39e-05 0 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . 1.467 1.467000 . . 0.300000 . . 1.0E-183 . . . . . . . . . 1.467 . . rs4935252 rs4935252 rs4935252 rs4935252 1 1538 10 1/0 0,184,255 +rs782610237 (chr10:51371608 G/A) 10 51371608 G A Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51381403 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51381403 51381403 Chr10(GRCh37):g.51381403G>A 166-36 166-36 NM_001290117.1:c.166-36G>A p.? p.? 3 2 -36 3' 88.9719 X.82 0.980737 7.10226 88.9719 X.82 0.980737 6.85115 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.000 -0.117 206 PASS . . . . . . . . . . . . . . . . 0.17777778 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.1486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.3 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . rs71197680 rs71197680 rs71197680 1 1538 10 1/0 0,255,255 +. (chr10:51381453 T/C) 10 51381453 T C Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. (chr10:51381481 C/T) 10 51381481 C T Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. (chr10:51381519 A/G) 10 51381519 A G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51381730 CT C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 deletion intron GRCh37 51381733 51381733 Chr10(GRCh37):g.51381733del 260-29 260-29 NM_001290117.1:c.260-29del p.? p.? 4 3 -29 3' 86.1023 4.73281 0.475972 0 86.1023 4.73281 0.475972 0 0 T 255 Pass . . . . . . . . . . . . . . . . 0.53125 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,27 +. 10 51381747 G T - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51381747 51381747 Chr10(GRCh37):g.51381747G>T 260-15 260-15 NM_001290117.1:c.260-15G>T p.? p.? 4 3 -15 3' 86.1023 4.73281 0.475972 0 86.1023 5.71553 0.68308 0 0.214256 Cryptic Acceptor Strongly Activated 51381762 4.73281 0.475972 86.1023 5.71553 0.68308 86.1023 transversion G T G>T 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.4680851 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.0116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.34 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849496 rs61849496 rs61849496 rs61849496 1 1538 10 1/0 0,255,255 +. (chr10:51381775 T/G) 10 51381775 T G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. (chr10:51381836 A/G) 10 51381836 A G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51384373 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51384373 51384373 Chr10(GRCh37):g.51384373A>G 403+16 403+16 NM_001290117.1:c.403+16A>G p.? p.? 5 5 16 5' 86.9112 X.85 0.995119 0 86.9112 X.85 0.995119 0 0 transition A G A>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.65957445 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.0021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.3 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849527 rs61849527 rs61849527 rs61849527 1 1538 10 1/0 0,255,255 +. 10 51384388 G GTTAAC - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 insertion intron GRCh37 51384392 51384393 Chr10(GRCh37):g.51384392_51384393insCTTAA 403+35 403+36 NM_001290117.1:c.403+35_403+36insCTTAA p.? p.? 5 5 35 5' 86.9112 X.85 0.995119 0 86.9112 X.85 0.995119 0 0 Cryptic Acceptor Strongly Activated 51384395 0.430085 0.000448 67.0095 2.21921 0.001685 78.0879 CTTAA 255 Pass . . . . . . . . . . . . . . . . 0.5952381 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +. (chr10:51387654 T/G) 10 51387654 T G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51388204 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51388204 51388204 Chr10(GRCh37):g.51388204G>A 514+441 514+441 NM_001290117.1:c.514+441G>A p.? p.? 6 6 441 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 transition G A G>A 0.783 0.448 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.1790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . 0.39 0.14 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4962281 rs4962281 rs4962281 rs4962281 1 1538 10 1/0 0,255,255 +. 10 51388212 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51388212 51388212 Chr10(GRCh37):g.51388212A>G 514+449 514+449 NM_001290117.1:c.514+449A>G p.? p.? 6 6 449 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 Cryptic Acceptor Strongly Activated 51388221 3.64594 0.065303 74.1706 5.52722 0.096253 74.4263 transition A G A>G 0.799 0.205 255 PASS . . . . . . . . . . . . . . . . 0.46875 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.2921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . 0.41 0.17 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4962282 rs4962282 rs4962282 rs4962282 1 1538 10 1/0 0,255,255 +. 10 51388267 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51388267 51388267 Chr10(GRCh37):g.51388267A>G 514+504 514+504 NM_001290117.1:c.514+504A>G p.? p.? 6 6 504 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 transition A G A>G 0.008 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . 0.36 0.15 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4962283 rs4962283 rs4962283 rs4962283 1 1538 10 1/0 0,255,255 +. 10 51388287 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51388287 51388287 Chr10(GRCh37):g.51388287G>A 514+524 514+524 NM_001290117.1:c.514+524G>A p.? p.? 6 6 524 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 transition G A G>A 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.4840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . 0.33 0.19 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4962284 rs4962284 rs4962284 rs4962284 1 1538 10 1/0 0,255,255 +rs41274660 10 51549533 T G - MSMB 7372 Microseminoprotein, beta- NM_002443.3 1 494 345 NP_002434.1 P08118 substitution upstream GRCh37 51549533 51549533 Chr10(GRCh37):g.51549533T>G -52 -52 NM_002443.3:c.-52T>G p.? p.? 1 157145 -55 5' 81.1016 8.60125 0.940053 2.71467 81.1016 8.60125 0.940053 3.14074 0 rs41274660 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000000 0.002000 0.000000 0.011900 0.004300 0.007134 0.002290 0.004773 0.029801 0.000000 0.000000 0.011062 0.004007 0.008147 0.029801 221 20 4 9 0 0 166 14 8 30978 8734 838 302 1622 0 15006 3494 982 0.004525 0.000000 0.000000 0.111111 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 219 20 4 7 0 0 166 14 8 0 0 0 0 0 0 0 0 0 PASS 45 Genomes 7050 3127 10177 114 9 123 0.0159129 0.0028699 0.0119417 0.0159129 0.0028699 0.0119417 142 transversion T G T>G 0.000 -1.328 255 PASS . 0.0046 0.01 . 0.01 . 0.0034 0.0043 . 0.012 0.002 . . . . . 0.5591398 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . 0.0029 0.012 0.016 0.0029 0.012 0.016 . -0.1155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . 0.0034 . . . 0.45 0.59 182 ENSG00000138294 . TIMM23B ENST00000358559:c.-52T>G . . . . . 736 0.0113273 64976 719 0.0119861 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41274660 . . . . . . . . . . . . . . . . . . . . . . . 0.011942 . . . . . . . . . . . . . . 0.0023 0.0071 0.0048 0.0298 0 0.0040 0.0111 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.016 rs41274660 rs41274660 rs41274660 rs41274660 1 1538 10 1/0 0,255,255 +rs41274660 10 51549533 T G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51549533 51549533 Chr10(GRCh37):g.51549533T>G 514+161770 514+161770 NM_001290117.1:c.514+161770T>G p.? p.? 6 6 161770 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 rs41274660 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000000 0.002000 0.000000 0.011900 0.004300 0.007134 0.002290 0.004773 0.029801 0.000000 0.000000 0.011062 0.004007 0.008147 0.029801 221 20 4 9 0 0 166 14 8 30978 8734 838 302 1622 0 15006 3494 982 0.004525 0.000000 0.000000 0.111111 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 219 20 4 7 0 0 166 14 8 0 0 0 0 0 0 0 0 0 PASS 45 Genomes 7050 3127 10177 114 9 123 0.0159129 0.0028699 0.0119417 0.0159129 0.0028699 0.0119417 142 transversion T G T>G 0.000 -1.328 255 PASS . 0.0046 0.01 . 0.01 . 0.0034 0.0043 . 0.012 0.002 . . . . . 0.5591398 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . 0.0029 0.012 0.016 0.0029 0.012 0.016 . -0.1155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . 0.0034 . . . 0.45 0.59 182 ENSG00000138294 . TIMM23B ENST00000358559:c.-52T>G . . . . . 736 0.0113273 64976 719 0.0119861 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41274660 . . . . . . . . . . . . . . . . . . . . . . . 0.011942 . . . . . . . . . . . . . . 0.0023 0.0071 0.0048 0.0298 0 0.0040 0.0111 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.016 rs41274660 rs41274660 rs41274660 rs41274660 1 1538 10 1/0 0,255,255 +. 10 51610357 T TTTAAG - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 insertion intron GRCh37 51610357 51610358 Chr10(GRCh37):g.51610357_51610358insTTAAG 403+35 403+36 NM_006327.3:c.403+35_403+36insCTTAA p.? p.? 5 5 605034 35 5' 86.9112 X.85 0.995119 0 86.9112 X.85 0.995119 0 0 Cryptic Acceptor Strongly Activated 51610355 0.430085 0.000448 67.0095 2.21921 0.001685 78.0879 rs371357578 no no 0 0.000000 0 CTTAA 255 Pass . . . . . . . . . . . . . . . . 0.4878049 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,31 +. 10 51610357 T TTTAAG - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 insertion intron GRCh37 51610361 51610362 Chr10(GRCh37):g.51610361_51610362insGTTAA 515-122411 515-122410 NM_001290117.1:c.515-122411_515-122410insGTTAA p.? p.? 7 6 -122410 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 New Acceptor Site 51610363 7.02122 0.768117 80.5928 rs371357578 no no 0 0.000000 0 GTTAA 255 Pass . . . . . . . . . . . . . . . . 0.4878049 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,31 +rs61849527 10 51610377 T C - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution intron GRCh37 51610377 51610377 Chr10(GRCh37):g.51610377T>C 403+16 403+16 NM_006327.3:c.403+16A>G p.? p.? 5 5 605034 16 5' 86.9112 X.85 0.995119 0 86.9112 X.85 0.995119 0 0 rs61849527 no no 0 T 0.000000 0 transition A G A>G 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.0358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.4 182 ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849527 rs61849527 rs61849527 rs61849527 1 1538 10 1/0 0,255,255 +rs61849527 10 51610377 T C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51610377 51610377 Chr10(GRCh37):g.51610377T>C 515-122395 515-122395 NM_001290117.1:c.515-122395T>C p.? p.? 7 6 -122395 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs61849527 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.0358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.4 182 ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849527 rs61849527 rs61849527 rs61849527 1 1538 10 1/0 0,255,255 +rs61849495 10 51613231 T C - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution synonymous exon GRCh37 51613231 51613231 Chr10(GRCh37):g.51613231T>C 246 246 NM_006327.3:c.246A>G p.Gly82= p.Gly82Gly 3 605034 -14 5' 95.6376 X.36 0.994306 3.04306 95.6376 X.36 0.994306 2.32467 0 Cryptic Acceptor Strongly Activated 51613217 4.12043 0.008734 80.0802 4.82753 0.016496 80.2981 Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24 Mitochondrial inner membrane translocase complex, subunit Tim23 rs61849495 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 1.000 0.367 G Gly GGA 0.246 G Gly GGG 0.250 82 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.A246G:p.G82G . . 0.46478873 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 71.0 . . . . . . . . . . 1.1577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.71 0.46 182 ENSG00000138297 TIMM23 TIMM23 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849495 rs61849495 rs61849495 rs61849495 1 1538 10 1/0 0,255,255 +rs61849495 10 51613231 T C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51613231 51613231 Chr10(GRCh37):g.51613231T>C 515-119541 515-119541 NM_001290117.1:c.515-119541T>C p.? p.? 7 6 -119541 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs61849495 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 0.367 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.A246G:p.G82G . . 0.46478873 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 71.0 . . . . . . . . . . 1.1577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.71 0.46 182 ENSG00000138297 TIMM23 TIMM23 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849495 rs61849495 rs61849495 rs61849495 1 1538 10 1/0 0,255,255 +rs61849494 10 51613269 G A - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution missense exon GRCh37 51613269 51613269 Chr10(GRCh37):g.51613269G>A 208 208 NM_006327.3:c.208C>T p.Arg70Trp p.Arg70Trp 3 605034 43 3' 88.9719 X.82 0.984727 6.98928 88.9719 X.82 0.984727 6.61767 0 Mitochondrial inner membrane translocase complex, subunit Tim23 rs61849494 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.992 1.497 R Arg CGG 0.207 W Trp TGG 1.000 70 12 11 Fruitfly -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C35 26.00 95.78 Deleterious 0 III.19 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.C208T:p.R70W . . 0.45833334 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.0039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.72 0.47 182 ENSG00000138297 TIMM23 TIMM23 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . XII.23 . . IV.61 III.67 . 0.020000 . . . . . . . . . III.67 . . . . . . . . . . . . . . . . . . . . . 1.243 1.243000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 1.243 . . rs61849494 rs61849494 rs61849494 rs61849494 1 1538 10 1/0 0,255,255 +rs61849494 10 51613269 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51613269 51613269 Chr10(GRCh37):g.51613269G>A 515-119503 515-119503 NM_001290117.1:c.515-119503G>A p.? p.? 7 6 -119503 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 New Acceptor Site 51613271 4.82591 0.032969 75.573 rs61849494 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.992 1.497 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.C208T:p.R70W . . 0.45833334 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.0039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.72 0.47 182 ENSG00000138297 TIMM23 TIMM23 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . XII.23 . . IV.61 III.67 . 0.020000 . . . . . . . . . III.67 . . . . . . . . . . . . . . . . . . . . . 1.243 1.243000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 1.243 . . rs61849494 rs61849494 rs61849494 rs61849494 1 1538 10 1/0 0,255,255 +rs61849493 10 51613297 A G - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution synonymous exon GRCh37 51613297 51613297 Chr10(GRCh37):g.51613297A>G 180 180 NM_006327.3:c.180T>C p.Phe60= p.Phe60Phe 3 605034 15 3' 88.9719 X.82 0.984727 6.98928 88.9719 X.82 0.980737 7.47386 -0.00135063 Mitochondrial inner membrane translocase complex, subunit Tim23 rs61849493 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 0.932 F Phe TTT 0.454 F Phe TTC 0.546 60 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.T180C:p.F60F . . 0.46551725 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 58.0 . . . . . . . . . . I.67 0.063 1.327 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.387 @ . . . 0.71 0.47 182 ENSG00000138297 TIMM23 TIMM23 . . . 0.000 0.035 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.312 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.47 . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-255 1.000 0.715 . 0.750 . . 0.341 . 0.335 . . . rs61849493 rs61849493 rs61849493 rs61849493 1 1538 10 1/0 0,255,255 +rs61849493 10 51613297 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51613297 51613297 Chr10(GRCh37):g.51613297A>G 515-119475 515-119475 NM_001290117.1:c.515-119475A>G p.? p.? 7 6 -119475 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs61849493 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 1.000 0.932 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.T180C:p.F60F . . 0.46551725 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 58.0 . . . . . . . . . . I.67 0.063 1.327 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.387 @ . . . 0.71 0.47 182 ENSG00000138297 TIMM23 TIMM23 . . . 0.000 0.035 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.312 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.47 . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-255 1.000 0.715 . 0.750 . . 0.341 . 0.335 . . . rs61849493 rs61849493 rs61849493 rs61849493 1 1538 10 1/0 0,255,255 +. 10 51613347 C T - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution intron GRCh37 51613347 51613347 Chr10(GRCh37):g.51613347C>T 166-36 166-36 NM_006327.3:c.166-36G>A p.? p.? 3 2 605034 -36 3' 88.9719 X.82 0.984727 6.98928 88.9719 X.82 0.984727 6.73818 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.000 -0.037 216 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.1794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.26 182 ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . rs71197680 rs71197680 rs71197680 1 1538 10 1/0 0,255,255 +. 10 51613347 C T - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51613347 51613347 Chr10(GRCh37):g.51613347C>T 515-119425 515-119425 NM_001290117.1:c.515-119425C>T p.? p.? 7 6 -119425 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.000 -0.037 216 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.1794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.26 182 ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . rs71197680 rs71197680 rs71197680 1 1538 10 1/0 0,255,255 +rs4457707 10 51629952 G T - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51629952 51629952 Chr10(GRCh37):g.51629952G>T 515-102820 515-102820 NM_001290117.1:c.515-102820G>T p.? p.? 7 6 -102820 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 Cryptic Acceptor Strongly Activated 51629957 4.29719 0.038159 85.341 VII.94 0.657766 89.0928 rs4457707 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G T G>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.0851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.49 0.16 182 ENSG00000214982 AK294819 TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4457707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4457707 rs4457707 rs4457707 rs4457707 1 1538 10 1/0 0,255,255 +rs4542358 10 51629999 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51629999 51629999 Chr10(GRCh37):g.51629999A>G 515-102773 515-102773 NM_001290117.1:c.515-102773A>G p.? p.? 7 6 -102773 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs4542358 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 1.000 1.658 253 PASS . . . . . . . . . . . . PARG:uc009xop.2:exon2:c.A231G:p.K77K . . . 0.32352942 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . I.64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . 0.67 0.45 182 ENSG00000214982 PARG TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4542358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.93 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs4542358 rs4542358 rs4542358 rs4542358 1 1538 10 1/0 0,255,255 +rs4362100 10 51630024 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51630024 51630024 Chr10(GRCh37):g.51630024G>A 515-102748 515-102748 NM_001290117.1:c.515-102748G>A p.? p.? 7 6 -102748 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs4362100 no no 0 G 0.000000 0 transition G A G>A 1.000 1.335 255 PASS . . . . . . . . . . . . PARG:uc009xop.2:exon2:c.G256A:p.E86K . . . 0.35135135 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 1.1088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . 0.77 0.57 182 ENSG00000214982 PARG TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs4362100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4362100 rs4362100 rs4362100 rs4362100 1 1538 10 1/0 0,255,255 +rs4362101 10 51630050 C A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51630050 51630050 Chr10(GRCh37):g.51630050C>A 515-102722 515-102722 NM_001290117.1:c.515-102722C>A p.? p.? 7 6 -102722 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs4362101 no no 0 C 0.000000 0 transversion C A C>A 1.000 0.609 255 PASS . . . . . . . . . . . . PARG:uc009xop.2:exon2:c.C282A:p.D94E . . . 0.36842105 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.8013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . 0.53 0.36 182 ENSG00000214982 PARG TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs4362101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4362101 rs4362101 rs4362101 rs4362101 1 1538 10 1/0 0,255,255 +. 10 51631266 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51631266 51631266 Chr10(GRCh37):g.51631266A>G 515-101506 515-101506 NM_001290117.1:c.515-101506A>G p.? p.? 7 6 -101506 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 New Donor Site 51631265 0.738575 0.209607 68.6486 0.002336 0.000411 0.001809 0.000000 0.005956 0.004308 0.001456 0.001730 0.000000 0.005956 96 2 12 0 39 19 23 1 0 41102 4864 6634 1118 6548 4410 15798 578 1152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 96 2 12 0 39 19 23 1 0 0 0 0 0 0 0 0 0 0 PASS 51 Exomes transition A G A>G 0.976 0.770 223 PASS . . . . . . . . . . . . PARG:uc009xop.2:exon3:c.A581G:p.D194G . . . 0.22289157 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . I.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . . . . ENSG00000214982 PARG TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.35 0.0004 0.0023 0.0018 0 0.0060 0.0017 0.0015 0 0.0043 . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +rs2305303 10 51855450 T G - WASHC2A 23416 WASH complex subunit 2A NM_001005751.2 1 4708 4026 NP_001005751.1 Q641Q2 substitution synonymous exon GRCh37 51855450 51855450 Chr10(GRCh37):g.51855450T>G 1332 1332 NM_001005751.2:c.1332T>G p.Gly444= p.Gly444Gly 15 -89 5' 89.8263 9.80181 0.994451 XI.22 89.8263 9.80181 0.994451 XI.22 0 rs2305303 no no 0 T 0.000000 0 0.000936 0.001724 0.000649 0.000000 0.002243 0.001051 0.000946 0.000213 0.001250 0.002243 63 8 5 0 10 9 27 2 2 67278 4640 7704 2386 4458 8564 28532 9394 1600 0.000119 0.000000 0.000000 0.000000 0.000000 0.000934 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 55 8 5 0 10 1 27 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3675806 Haematopoietic and lymphoid tissue 0.000283 3530 transversion T G T>G 0.000 -0.763 G Gly GGT 0.162 G Gly GGG 0.250 444 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 8.0 . . . . . . . . . . 0.0548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.44 182 ENSG00000099290 . FAM21A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0004 0 0.0012 0 0 0.0007 0.0011 0.0065 0.0091 0.0152 0 0.0305 0.0048 0.0095 0.0081 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2305303 rs2305303 rs2305303 rs2305303 1 1538 255 1.I 0,0,255 +rs3867224 10 51952509 C A - ASAH2 18860 N-acylsphingosine amidohydrolase 2 NM_019893.3 -1 4797 2343 NP_063946.2 Q9NR71 substitution intron GRCh37 51952509 51952509 Chr10(GRCh37):g.51952509C>A 2005-37 2005-37 NM_019893.3:c.2005-37G>T p.? p.? 18 17 611202 -37 3' 98.0914 7.80838 0.91852 2.25758 98.0914 7.80838 0.91852 II.44 0 Cryptic Acceptor Strongly Activated 51952500 0.0332406 0.000288 63.6102 0.813738 0.003905 69.063 rs3867224 yes no Frequency/1000G 2 C 0.000000 0 0.007576 0.007576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.007576 1 1 0 0 0 0 0 0 0 132 132 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 118 Genomes transversion G T G>T 0.000 0.125 111 PASS 0.44 0.8 0.88 0.94 0.9 . . . . . . . . . . . 1.0 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.0981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.19 182 ENSG00000188611 ASAH2 ASAH2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs199967962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0076 0.0076 . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.94 rs3867224 rs3867224 rs3867224 rs199967962 1 1538 255 1.I 0,0,255 +rs569779735 10 51974489 T C - ASAH2 18860 N-acylsphingosine amidohydrolase 2 NM_019893.3 -1 4797 2343 NP_063946.2 Q9NR71 substitution intron GRCh37 51974489 51974489 Chr10(GRCh37):g.51974489T>C 1140+14 1140+14 NM_019893.3:c.1140+14A>G p.? p.? 8 8 611202 14 5' 77.9039 6.58677 0.745439 0 77.9039 6.58677 0.745439 0 0 rs569779735 yes no Frequency/1000G 2 C 0.049321 C 247 0.049321 0.003000 0.035800 0.067500 0.097400 0.060500 0.000487 0.001129 0.000000 0.000639 0.000596 0.000000 0.000329 0.001136 0.000588 0.001136 42 18 0 2 6 0 9 6 1 86254 15946 7340 3130 10066 15448 27338 5284 1702 0.000093 0.000000 0.000000 0.000639 0.000000 0.000000 0.000073 0.000757 0.000000 4 0 0 1 0 0 1 2 0 34 18 0 0 6 0 7 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.682 111 PASS . . . . . 0.003 0.049 0.06 0.068 0.097 0.036 . . . . . 1.0 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . 0.0031 . . . . . . . . 1.521e-03 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0493 . . . 0.44 0.24 182 ENSG00000188611 ASAH2 ASAH2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs569779735 0.326 0.362 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0.0007 0 0.0008 0.0001 0 0 0.0038 0.0037 0 0 0.0090 0.0036 0.0024 0.0054 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.33 rs993868 rs993868 rs993868 rs993868 1 1538 255 1.I 0,0,255 +rs41283690 10 60154213 G A - TFAM 11741 Transcription factor A, mitochondrial NM_003201.2 1 5302 741 NP_003192.1 Q00059 substitution intron GRCh37 60154213 60154213 Chr10(GRCh37):g.60154213G>A 594+39 594+39 NM_003201.2:c.594+39G>A p.? p.? 6 6 600438 39 5' 80.4469 7.97184 0.958589 2.45281 80.4469 7.97184 0.958589 2.01282 0 rs41283690 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.004100 0.000000 0.012900 0.002900 0.007461 0.002413 0.004823 0.000296 0.000689 0.004711 0.012490 0.001861 0.008199 0.012490 2068 58 166 3 13 145 1582 48 53 277170 24034 34418 10150 18868 30782 126662 25792 6464 0.000065 0.000000 0.000000 0.000000 0.000000 0.000065 0.000126 0.000000 0.000000 9 0 0 0 0 1 8 0 0 2050 58 166 3 13 143 1566 48 53 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8498 4396 12894 102 10 112 0.0118605 0.00226963 0.00861141 0.0118605 0.00226963 0.00861141 74 transition G A G>A 0.000 1.174 255 PASS . 0.01 0.01 . 0.02 . 0.0038 0.0029 . 0.013 0.0041 UNKNOWN . . . . 0.4893617 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . 0.0023 0.0086 0.012 0.0023 0.0086 0.012 . -0.3556 . . . . . . . . 7.782e-03 . . . 0.0028 0.0069 0.0040 0.0005 0.0021 0.0110 0.0042 0.0045 0.0021 0.0074 0.0038 0.0009 0.0023 0.0116 0.0014 0.0045 unknown . . . . . exonic intronic intronic . . . 0.0038 . . . 0.46 0.22 182 ENSG00000108064 TFAM TFAM . . . . . . 687 0.0105731 64976 668 0.0111359 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41283690 0.011 0.051 . . . . . 0.00641025641025641 0.0 0.0055248618784530384 0.0 0.0158311345646438 V.16 0.002408 ENST00000395377 IV.44 III.32 . . . . . . 0.008611 . . . . III.32 0.0025 0.0076 0.0049 0.0003 0.0008 0.0018 0.0127 0.0078 0.0047 0.0022 0.0066 0.0036 0 0 0.0020 0.0110 0.0102 . . . . 0.844 0.844000 . . . . . 1.0E-255 . . . . . . . . . 0.844 . 0.02 rs41283690 rs41283690 rs41283690 rs41283690 1 1538 10 1/0 0,255,255 +. 10 61083691 G GATGG - FAM13C 19371 Family with sequence similarity 13 member C NM_198215.3 -1 3375 1758 NP_937858.2 Q8NE31 insertion intron GRCh37 61083690 61083691 Chr10(GRCh37):g.61083690_61083691insGATG 443+57 443+58 NM_198215.3:c.443+57_443+58insCATC p.? p.? 4 4 57 5' 79.4718 7.92601 0.939304 3.27816 79.4718 7.92601 0.939304 3.55866 0 CATC 255 Pass . . . . . . . . . . . . . . . . 0.3617021 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000148541 FAM13C FAM13C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,44 +rs139092048 10 61819543 C A - ANK3 494 Ankyrin 3 NM_020987.4 -1 17128 13134 NP_066267.2 Q12955 substitution intron GRCh37 61819543 61819543 Chr10(GRCh37):g.61819543C>A 12596-355 12596-355 NM_020987.4:c.12596-355G>T p.? p.? 41 40 600465 -355 3' 88.7909 6.50782 0.830149 1.45892 88.7909 6.50782 0.830149 1.45892 0 rs139092048 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.004038 0.001415 0.001976 0.011335 0.000000 0.000000 0.006488 0.002521 0.002476 0.011335 1118 34 68 115 0 0 820 65 16 276858 24034 34406 10146 18862 30778 126386 25784 6462 0.000014 0.000000 0.000000 0.000197 0.000000 0.000000 0.000016 0.000000 0.000000 2 0 0 1 0 0 1 0 0 1114 34 68 113 0 0 818 65 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4398 12938 60 8 68 0.00697674 0.00181571 0.00522836 0.00697674 0.00181571 0.00522836 152 transversion G T G>T 1.000 3.595 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . . . . . 0.59183675 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.268 . @ . . . . . 1 0.612 . . 98.0 . . . 0.0018 0.0052 0.007 0.0018 0.0052 0.007 . 0.3977 0.502 0.398 c . . . . . 3.844e-03 . . . 0.0013 0.0032 0.0013 0 0.0021 0.0060 0.0028 0 0.0012 0.0037 0.0013 0 0.0021 0.0064 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.570 . . exonic exonic exonic . . 0.910 0.0010 . . . 0.46 0.34 182 ENSG00000151150 ANK3 ANK3 . . . 0.974 0.295 . 311 0.00478638 64976 306 0.00510119 59986 Uncertain_significance . 0 . . . . . . T 0.395 0.018 . . 37 . 0.607 . . 0.592 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.377 . . 0 0 0 0 1 0 . 0.715 . . 0.699 . . . . . . 1 0.310 . . . . . 0.974 . 0.535 . HET 1 rs139092048 . . . . . . . 0.0018315018315018315 0.0 0.0027624309392265192 0.0 0.00395778364116095 19.9961 0.001873 . V.77 V.77 . 1.000000 . . . . 0.005228 . 0.795 . . V.77 0.0013 0.0040 0.0020 0.0116 0 0.0025 0.0065 0.0026 0 0.0016 0.0040 0.0012 0.0033 0 0.0026 0.0065 0.0020 . . 0.609 . 2.744 2.744000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.513 . 0.490 2.744 0.871 0.007 . . rs139092048 rs139092048 1 1538 10 1/0 0,255,255 +rs187759746 10 61941283 C T - ANK3 494 Ankyrin 3 NM_020987.4 -1 17128 13134 NP_066267.2 Q12955 substitution intron GRCh37 61941283 61941283 Chr10(GRCh37):g.61941283C>T 2086-98 2086-98 NM_020987.4:c.2086-98G>A p.? p.? 18 17 600465 -98 3' 85.5497 9.20381 0.824737 7.82719 85.5497 9.20381 0.824737 7.82719 0 rs187759746 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.003327 0.001147 0.001196 0.000000 0.000000 0.000000 0.005133 0.002576 0.006110 0.005133 103 10 1 0 0 0 77 9 6 30958 8722 836 302 1620 0 15002 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 10 1 0 0 0 77 9 6 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 1.255 235 PASS . 0.0018 0.01 . 0.0013 . 0.001 0.0043 . 0.002 . . . . . . 0.2647059 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.3600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.43 0.49 182 ENSG00000151150 ANK3 ANK3 . . . . . . 156 0.00240089 64976 151 0.00251725 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187759746 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1003254 . . . . . III.62 . . . . . . . . . 0.0011 0.0033 0.0012 0 0 0.0026 0.0051 0.0061 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.01 . . rs187759746 rs187759746 1 1538 10 1/0 0,255,255 +rs146631014 10 64574206 C G - EGR2 3239 Early growth response 2 NM_000399.4 -1 2993 1431 NP_000390.2 P11161 substitution missense exon GRCh37 64574206 64574206 Chr10(GRCh37):g.64574206C>G 192 192 NM_000399.4:c.192G>C p.Met64Ile p.Met64Ile 2 129010 23 3' 83.6919 12.0411 0.950175 16.8454 83.6919 12.0411 0.950175 16.6004 0 rs146631014 yes no Frequency/1000G 2 C uncertain_significance,likely_benign 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000397 0.000125 0.000000 0.000000 0.000000 0.000000 0.000718 0.000465 0.000618 0.000718 110 3 0 0 0 0 91 12 4 277146 24006 34420 10150 18868 30782 126664 25788 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 3 0 0 0 0 91 12 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 94 RCV000235956.1|RCV000388138.1 germline|germline clinical testing|clinical testing VUS|Likely benign 1|1 not specified|Charcot-Marie-Tooth, Type 1 transversion G C G>C 1.000 3.030 M Met ATG 1.000 I Ile ATC 0.481 64 12 8 Frog 2 1 2 0 0 5.VII 5.II 105 111 10 C0 254.01 0.00 Tolerated 0.41 3.00 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5268817 . . germline 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.381 . Uncertain//\@significance//\%//\@Likely//\@benign Uncertain_significance|Likely_benign RCV000235956.1|RCV000388138.1 . MedGen|MedGen CN169374|CN239158 1 0.614 . . 93.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.0158 0.156 0.016 c . . . . . 5.761e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 0.0006 0 0 0.0005 0.0010 0.0029 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.532 0.0002 . . . 0.37 0.53 182 ENSG00000122877 EGR2 EGR2 . . . 1.000 0.747 . 19 0.000292416 64976 18 0.00030007 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.179 0.007 . . 37 . 0.165 . . 0.032 . . . 0.389 0.460 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.277 . . 0 0 0 0 0 0 . 0.286 . . 0.227 . . . . . . 0 0.524 . . . . . 0.677 . 0.413 . HET 0.01 rs146631014 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 14.5735 0.0 . V.41 IV.45 . 0.020000 . . . Name\x3dnsv895570 0.000231 . 0.355 . . IV.45 0 0.0004 0 0 0 0.0004 0.0008 0.0005 0 0.0003 0.0003 0 0 0 0.0006 0.0001 0.0010 . . 0.401 . 2.523 2.523000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.325 . 0.490 2.523 0.871 0.0013 . . rs146631014 rs146631014 1 1538 10 1/0 0,255,255 +rs143793213 10 64574224 G A - EGR2 3239 Early growth response 2 NM_000399.4 -1 2993 1431 NP_000390.2 P11161 substitution synonymous exon GRCh37 64574224 64574224 Chr10(GRCh37):g.64574224G>A 174 174 NM_000399.4:c.174C>T p.Gly58= p.Gly58Gly 2 129010 5 3' 83.6919 12.0411 0.950175 16.8454 83.6919 12.0411 0.949044 16.4989 -0.000396769 Cryptic Donor Strongly Activated 64574226 70.3683 6.56339 0.744375 75.6797 rs143793213 yes no Frequency/1000G 2 G uncertain_significance,likely_benign 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000397 0.000125 0.000000 0.000000 0.000000 0.000000 0.000719 0.000466 0.000619 0.000719 110 3 0 0 0 0 91 12 4 277090 24000 34420 10152 18868 30782 126652 25750 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 3 0 0 0 0 91 12 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 79 RCV000235368.1|RCV000296104.1 germline|germline clinical testing|clinical testing VUS|Likely benign 1|1 not specified|Charcot-Marie-Tooth, Type 1 transition C T C>T 1.000 1.093 G Gly GGC 0.342 G Gly GGT 0.162 58 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.55813956 . . germline 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 1 0 0 . . . . . . . . Uncertain//\@significance//\%//\@Likely//\@benign Uncertain_significance|Likely_benign RCV000235368.1|RCV000296104.1 . MedGen|MedGen CN169374|CN239158 2 . . . 86.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.67 . . . . . . . . 5.761e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 0.0006 0 0 0.0005 0.0010 0.0029 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.36 0.49 182 ENSG00000122877 EGR2 EGR2 . . . . . . 19 0.000292416 64976 18 0.00030007 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143793213 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv895570 0.000231 . . . . IV.45 0 0.0004 0 0 0 0.0004 0.0008 0.0005 0 0.0003 0.0003 0 0 0 0.0006 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs143793213 rs143793213 1 1538 10 1/0 0,255,255 +rs140677396 10 70332355 C G - TET1 29484 Tet oncogene 1 NM_030625.2 1 9584 6411 NP_085128.2 Q8NFU7 substitution missense exon GRCh37 70332355 70332355 Chr10(GRCh37):g.70332355C>G 260 260 NM_030625.2:c.260C>G p.Thr87Ser p.Thr87Ser 2 607790 382 3' 89.6501 8.16405 0.92768 8.18207 89.6501 8.16405 0.92768 8.18207 0 New Donor Site 70332354 0.98406 0.018482 66.4674 rs140677396 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001418 0.000125 0.000029 0.000197 0.000000 0.000000 0.002612 0.001667 0.002012 0.002612 393 3 1 2 0 0 331 43 13 277210 24036 34420 10152 18868 30780 126702 25790 6462 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000310 2 0 0 0 0 0 1 0 1 389 3 1 2 0 0 329 43 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4405 12992 13 1 14 0.00151163 0.000226963 0.00107643 0.00151163 0.000226963 0.00107643 65 transversion C G C>G 0.543 0.609 T Thr ACT 0.243 S Ser AGT 0.149 87 12 7 Megabat 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.15 III.47 unknown 0.0 0.0 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . ENSG00000138336:ENST00000373644:exon2:c.C260G:p.T87S TET1:uc001jok.4:exon2:c.C260G:p.T87S TET1:NM_030625:exon2:c.C260G:p.T87S . . 0.4893617 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.366 . @ . . . . . 1 0.402 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aGt|T87S|TET1|mRNA|CODING|NM_030625|NM_030625.ex.2) 0.0002 0.0011 0.0015 0.0002 0.0011 0.0015 . -0.4687 -0.376 -0.469 c . . . . . 1.405e-03 . . . 0.0002 0.0009 0 0 0.0008 0.0017 0 0 0.0002 0.0013 0 0 0.0014 0.0023 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.080 . . exonic exonic exonic . . 0.353 0.0006 . . . 0.35 0.35 182 ENSG00000138336 TET1 TET1 . . . 0.334 0.195 . 67 0.00103115 64976 64 0.00106692 59986 Uncertain_significance . 0 . 0.275 . . . . T 0.226 0.008 . . 37 . 0.069 . . 0.304 . . . 0.203 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.330 . . 0 0 0 0 0 0 . 0.252 . . 0.227 . . . . . . 0 0.564 . . . . . 0.333 . 0.261 . HET 0.11 rs140677396 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 VIII.89 2.68E-4 ENST00000373644 V.24 III.16 . 0.090000 Q8NFU7 . . . 0.001076 . 0.199 . . III.16 0.0002 0.0013 2.978e-05 0.0002 0 0.0017 0.0024 0.0013 0 0 0.0026 0 0 0 0.0014 0.0045 0.0061 . . 0.090 . 0.405 0.405000 . . 0.090000 . . 1.0E-255 0.196 0.240 . 0.339 0.227 . 0.210 . 0.144 0.405 -0.022 0.0026 . . rs140677396 rs140677396 1 1538 10 1/0 0,255,255 +rs28723026 10 71391724 G T - C10orf35 23519 Chromosome 10 open reading frame 35 NM_145306.2 1 1076 366 NP_660349.1 Q96D05 substitution intron GRCh37 71391724 71391724 Chr10(GRCh37):g.71391724G>T 96+129 96+129 NM_145306.2:c.96+129G>T p.? p.? 3 3 129 5' 89.9194 X.02 0.995812 XI.07 89.9194 X.02 0.995812 XI.07 0 New Donor Site 71391722 8.90513 0.957337 81.5823 rs28723026 yes no Frequency/1000G 2 G 0.000000 0 transversion G T G>T 0.000 0.044 212 PASS . . . . . . . . . . . . . . . . 0.19512194 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||C10orf35|mRNA|CODING|NM_145306|) . . . . . . . -0.0963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.21 0.19 182 ENSG00000171224 C10orf35 C10orf35 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28723026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs28723026 rs28723026 rs28723026 rs28723026 1 1538 10 1/0 0,255,255 +rs886047109 10 72358536 A G - PRF1 9360 Perforin 1 NM_001083116.2 -1 2547 1668 NP_001076585.1 P14222 substitution missense exon GRCh37 72358536 72358536 Chr10(GRCh37):g.72358536A>G 941 941 NM_001083116.2:c.941T>C p.Leu314Pro p.Leu314Pro 3 170280 402 3' 84.1721 8.84666 0.97943 X.62 84.1721 8.84666 0.97943 X.62 0 Membrane attack complex component/perforin (MACPF) domain rs886047109 no no 0 A uncertain_significance 0.000000 0 RCV000395073.1 germline clinical testing VUS 1 Familial hemophagocytic lymphohistiocytosis transition T C T>C 1.000 1.820 L Leu CTG 0.404 P Pro CCG 0.115 314 12 10 Zebrafish -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 234.77 45.31 Deleterious 0 II.93 255 PASS . . . . . . . . . . . . . . . . 0.43983403 . . germline 106 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.766 . Uncertain//\@significance Uncertain_significance RCV000395073.1 Familial_hemophagocytic_lymphohistiocytosis MedGen:SNOMED_CT C0272199:398250003 1 0.950 . . 241.0 . . . . . . . . . . 0.6477 0.582 0.648 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.948 . . exonic exonic exonic . . 0.584 @ . . . . . . ENSG00000180644 PRF1 PRF1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.315 . . . . D 0.927 0.366 . . 37 . 0.964 . . 0.956 . . . 0.913 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.840 . . 0 0 0 0 0 0 . 0.657 . . 0.605 . . . . . . 0 0.912 . . . . . 0.257 . 0.911 . HET 0 . . . . . . . . . . . . . VII.64 . . V.83 IV.69 . 0.010000 P14222 . . Name\x3desv32737 . . 0.420 . . IV.69 . . . . . . . . . . . . . . . . . . . 0.283 . 1.017 1.017000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.384 0.448 . 0.506 . 0.881 1.017 1.062 . . . . . 1 1538 10 1/0 0,217,244 +. 10 73052421 G GA - UNC5B 12568 Unc-5 netrin receptor B NM_170744.4 1 6890 2838 NP_734465.2 Q8IZJ1 duplication intron GRCh37 73052424 73052425 Chr10(GRCh37):g.73052424dup 1772+113 1772+113 NM_170744.4:c.1772+113dup p.? p.? 11 11 607870 113 5' 74.1084 7.21055 0.802082 3.14656 74.1084 7.21055 0.802082 3.14656 0 rs544743935 yes no Frequency/1000G 2 0.000000 0 0.002396 0.000800 0.002000 0.000000 0.008000 0.001400 0.006070 0.003436 0.002387 0.000000 0.000000 0.000000 0.009132 0.003723 0.006110 0.009132 188 30 2 0 0 0 137 13 6 30970 8732 838 302 1622 0 15002 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 188 30 2 0 0 0 137 13 6 0 0 0 0 0 0 0 0 0 PASS 43 Genomes A 255 Pass . . . . . 0.0008 0.0024 0.0014 . 0.008 0.002 . . . . . 0.5652174 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000107731 UNC5B UNC5B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs544743935 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv895712 . . . . . . . . . . . . . . . 0.0034 0.0061 0.0024 0 0 0.0037 0.0091 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,25 +. 10 74098244 A G - DNAJB12 14891 DnaJ (Hsp40) homolog, subfamily B, member 12 NM_001002762.2 -1 4360 1230 NP_001002762.2 substitution intron GRCh37 74098244 74098244 Chr10(GRCh37):g.74098244A>G 826-175 826-175 NM_001002762.2:c.826-175T>C p.? p.? 6 5 608376 -175 3' 89.7757 X.25 0.972053 5.25249 89.7757 X.25 0.972053 5.25249 0 transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.4375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . 0.2316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148719 DNAJB12 DNAJB12 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv895721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 75434362 C T - AGAP5 23467 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 NM_001144000.1 -1 2426 2061 NP_001137472.1 substitution missense exon GRCh37 75434362 75434362 Chr10(GRCh37):g.75434362C>T 2056 2056 NM_001144000.1:c.2056G>A p.Val686Met p.Val686Met 8 1471 3' 88.0254 X.65 0.97795 9.65261 88.0254 X.65 0.97795 9.65261 0 0.000049 0.000146 0.000087 0.000000 0.000000 0.000000 0.000031 0.000000 0.000000 0.000146 4 2 1 0 0 0 1 0 0 80954 13660 11526 1488 9102 6056 32454 4266 2402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6374553 Thyroid 0.004016 747 transition G A G>A 0.988 0.367 V Val GTG 0.468 M Met ATG 1.000 686 13 4 Orangutan 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 234.99 0.00 Deleterious 0.01 III.57 bad 9.403E-4 0.0009759 182 PASS . . . . . . . . . . . . . AGAP5:NM_001144000:exon8:c.G2056A:p.V686M . . 0.11827957 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.190 . @ . . . . . 1 0.401 . . 93.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V686M|AGAP5|mRNA|CODING|NM_001144000|NM_001144000.ex.8) . . . . . . . -0.4762 -0.695 -0.476 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.571 . . exonic exonic exonic . . . @ . . . 0.44 0.31 182 ENSG00000172650 AGAP5 AGAP5 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.452 . . . . T 0.131 0.005 . . 37 . 0.442 . . 0.313 . . . 0.170 0.194 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.657 . . 0.708 . . . . . . 0 0.491 . . . . . 0.180 . 0.095 . LowAF 0 . . . . . . . . . . . . . V.89 . . . . . 0.000000 A6NIR3 . . . . . 0.047 . . . 0 3.899e-05 9.325e-05 0 0 0 5.389e-05 0 0 0.0002 6.743e-05 0 0 0 0 0 0 . . 0.558 . 0.107 0.107000 . . 0.000000 . . 1.0E-182 1.000 0.715 . 0.140 0.144 . 0.039 . 0.022 0.107 -0.653 . rs61842805 rs61842805 rs61842805 rs61842805 1 1538 10 1/0 0,231,255 +rs148177038 10 75883487 C A - AP3M1 569 Adaptor related protein complex 3 mu 1 subunit NM_001320263.1 -1 5431 1257 NP_001307192.1 Q9Y2T2 substitution 3'UTR GRCh37 75883487 75883487 Chr10(GRCh37):g.75883487C>A *81 *81 NM_001320263.1:c.*81G>T p.? p.? 11 610366 182 3' 96.2757 7.88713 0.873833 6.65436 96.2757 7.88713 0.873833 6.65436 0 New Donor Site 75883489 3.77557 0.163044 70.7126 rs148177038 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.002487 0.000115 0.000000 0.000000 0.000000 0.000000 0.002999 0.008877 0.000000 0.008877 77 1 0 0 0 0 45 31 0 30964 8730 838 302 1616 0 15006 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 1 0 0 0 0 45 31 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 1.000 2.304 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . . . . . 0.42222223 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . . . . . . . . . I.87 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0010 . . . 0.67 0.7 182 ENSG00000185009 AP3M1 AP3M1 . . . . . . 165 0.0025394 64976 160 0.00266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148177038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.43 . . . . . . . . . 0.0001 0.0025 0 0 0 0.0089 0.0030 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs148177038 rs148177038 1 1538 10 1/0 0,255,255 +rs141935235 10 76788410 G A - KAT6B 17582 Lysine acetyltransferase 6B NM_012330.3 1 8499 6222 NP_036462.2 Q8WYB5 substitution synonymous exon GRCh37 76788410 76788410 Chr10(GRCh37):g.76788410G>A 3828 3828 NM_012330.3:c.3828G>A p.Pro1276= p.Pro1276Pro 18 605880 164 3' 73.4616 3.52272 0.308361 7.27336 73.4616 3.52272 0.308361 7.27336 0 rs141935235 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000209 0.000083 0.000058 0.000000 0.000000 0.000032 0.000410 0.000039 0.000000 0.000410 58 2 2 0 0 1 52 1 0 277052 24028 34418 10152 18862 30782 126682 25664 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 2 2 0 0 1 52 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 79 transition G A G>A 0.016 -2.942 P Pro CCG 0.115 P Pro CCA 0.274 1276 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.3902439 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . -0.3175 . . . . . . . . 2.210e-04 . . . 9.639e-05 0.0002 0 0 0 0.0003 0 0 0.0001 0.0002 0 0 0 0.0004 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.56 0.17 182 ENSG00000156650 KAT6B KAT6B . . . . . . 15 0.000230854 64976 14 0.000233388 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141935235 . . . . . . . . . . . . . . . . . . . . . . . 0.000308 . . . . . 0.0001 0.0002 5.956e-05 0 0 4.51e-05 0.0004 0 3.249e-05 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs141935235 rs141935235 1 1538 10 1/0 0,255,255 +. 10 81466096 C T - NUTM2B 23445 NUT family member 2B NM_001278495.1 1 3292 2637 NP_001265424.1 A6NNL0 substitution synonymous exon GRCh37 81466096 81466096 Chr10(GRCh37):g.81466096C>T 681 681 NM_001278495.1:c.681C>T p.Ala227= p.Ala227Ala 2 299 3' 85.5424 XI.12 0.986584 15.4613 85.5424 XI.12 0.986584 15.4613 0 transition C T C>T 0.016 -0.117 A Ala GCC 0.403 A Ala GCT 0.263 227 193 PASS . . . . . . . . . . . . . NUTM2B:NM_001278495:exon2:c.C681T:p.A227A . . 0.14285715 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.2284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . . . . ENSG00000188199 . NUTM2B . dist\x3d17446\x3bdist\x3d56235 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 10 81466096 C T - NUTM2B-AS1 51204 NUTM2B antisense RNA 1 NR_120611.1 -1 4455 0 substitution downstream GRCh37 81466096 81466096 Chr10(GRCh37):g.81466096C>T *56232 *56232 NR_120611.1:n.*56232G>A p.? p.? 6 59985 3' 98.5911 7.24159 0.942295 4.45869 98.5911 7.24159 0.942295 4.45869 0 transition G A G>A 0.016 -0.117 193 PASS . . . . . . . . . . . . . NUTM2B:NM_001278495:exon2:c.C681T:p.A227A . . 0.14285715 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.2284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . . . . ENSG00000188199 . NUTM2B . dist\x3d17446\x3bdist\x3d56235 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 10 81472714 G C - NUTM2B 23445 NUT family member 2B NM_001278495.1 1 3292 2637 NP_001265424.1 A6NNL0 substitution downstream GRCh37 81472714 81472714 Chr10(GRCh37):g.81472714G>C *473 *473 NM_001278495.1:c.*473G>C p.? p.? 7 1259 3' 83.1298 XI.75 0.962092 XI.34 83.1298 XI.75 0.962092 XI.34 0 Cryptic Acceptor Strongly Activated 81472724 0.376 0.006303 65.1219 1.40778 0.041414 67.7728 0.001606 0.010160 0.000000 0.000000 0.000000 0.001174 0.001198 0.000000 0.000000 0.010160 33 19 0 0 0 2 12 0 0 20544 1870 2360 282 1192 1704 10014 2408 714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 19 0 0 0 2 12 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.440 251 PASS . . . . . . . . . . . . . . . . 0.32 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.4310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.72 0.73 182 ENSG00000226381 . NUTM2B-AS1 . dist\x3d24064\x3bdist\x3d49617 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0052 0.0011 0 0 0 0 0.0015 0 0.0012 0.0124 0.0022 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs75069128 rs75069128 1 1538 10 1/0 0,255,255 +. 10 81472714 G C - NUTM2B-AS1 51204 NUTM2B antisense RNA 1 NR_120611.1 -1 4455 0 substitution downstream GRCh37 81472714 81472714 Chr10(GRCh37):g.81472714G>C *49614 *49614 NR_120611.1:n.*49614C>G p.? p.? 6 53367 3' 98.5911 7.24159 0.942295 4.45869 98.5911 7.24159 0.942295 4.45869 0 0.001606 0.010160 0.000000 0.000000 0.000000 0.001174 0.001198 0.000000 0.000000 0.010160 33 19 0 0 0 2 12 0 0 20544 1870 2360 282 1192 1704 10014 2408 714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 19 0 0 0 2 12 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.440 251 PASS . . . . . . . . . . . . . . . . 0.32 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.4310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.72 0.73 182 ENSG00000226381 . NUTM2B-AS1 . dist\x3d24064\x3bdist\x3d49617 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0052 0.0011 0 0 0 0 0.0015 0 0.0012 0.0124 0.0022 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs75069128 rs75069128 1 1538 10 1/0 0,255,255 +rs434960 10 81609718 G C - NUTM2E 23448 NUT family member 2E NM_001355263.1 1 3292 2637 NP_001342192.1 B1AL46 substitution missense exon GRCh37 81609718 81609718 Chr10(GRCh37):g.81609718G>C 1993 1993 NM_001355263.1:c.1993G>C p.Glu665Gln p.Glu665Gln 7 142 3' 83.1298 XI.75 0.962092 X.73 83.1298 XI.75 0.962092 X.73 0 Cryptic Acceptor Strongly Activated 81609722 0.000575 1.78178 0.000733 62.7703 rs434960 yes no Frequency 1 C 0.000000 0 0.005411 0.011569 0.006721 0.000182 0.001014 0.005952 0.006420 0.000650 0.005640 0.011569 733 145 87 1 15 109 350 9 17 135466 12534 12944 5506 14794 18314 54514 13846 3014 0.004798 0.009734 0.006489 0.000000 0.000811 0.005897 0.005577 0.000433 0.004645 325 61 42 0 6 54 152 3 7 83 23 3 1 3 1 46 3 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -2.297 E Glu GAA 0.417 Q Gln CAA 0.256 665 11 1 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Tolerated 0.59 III.40 197 PASS . . . . . . . . . . . ENSG00000228570:ENST00000429984:exon7:c.G1993C:p.E665Q . . . . 0.15384616 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.003 . @ . . . . . 3 0.001 . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.8085 -2.025 -1.809 c . . . . . 1.060e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV . . 0.110 . . exonic intergenic intergenic . . 0.077 @ . . . 0.36 0.33 182 ENSG00000228570 . . . dist\x3d22360\x3bdist\x3d54936 dist\x3d22360\x3bdist\x3d54936 0.000 0.044 . . . . . . . . . 0 . 0.012 . . . . T 0.251 0.010 . . 37 . 0.039 . . 0.342 . . . . 0.090 . . . . . . . . . . . . . . . 0.028 . . . . . . 0 . . . . . . . . . . . . . 0.064 . . . . . 0.095 . 0.022 . HET 0.63 rs763070196 0.065 0.043 . . . . . . . . . . 4.1172 . ENST00000429984 0.844 -1.69 . 1.000000 . . . Name\x3dnsv895801 . . 0.001 . . . 0.0141 0.0054 0.0066 0 0.0010 0.0005 0.0063 0.0058 0.0060 0.0063 0.0058 0.01 0.0089 0.0017 0.0018 0.0071 0.0049 . . 0.246 . -2.382 -2.382000 . . 1.000000 . . 1.0E-197 0.000 0.063 . 0.016 0.023 . 0.018 . 0.001 -2.382 -0.518 0.065 rs434960 rs434960 rs434960 rs434960 1 1538 10 1/0 0,255,255 +. (chr10:81993459 TC/T) 10 81993459 TC T Not on a known gene +rs2819913 (chr10:81993495 C/A) 10 81993495 C A Not on a known gene +rs747419266 10 82111611 G A - DYDC1 23460 DPY30 domain containing 1 NM_001269053.1 -1 641 534 NP_001255982.1 Q8WWB3 substitution intron GRCh37 82111611 82111611 Chr10(GRCh37):g.82111611G>A 249+46 249+46 NM_001269053.1:c.249+46C>T p.? p.? 3 3 615154 46 5' 90.6189 10.0684 0.978939 5.47029 90.6189 10.0684 0.978939 5.41856 0 Cryptic Acceptor Strongly Activated 82111602 0.628789 0.000444 65.2929 0.689165 0.001157 68.0047 rs747419266 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000032 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000032 2 0 1 0 0 0 1 0 0 235374 14848 31034 9258 16566 28548 108120 21800 5200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 53 Exomes transition C T C>T 0.000 1.255 255 PASS . . . . . . . . . . . . . . . . 0.5194805 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.3956 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0 0 2.383e-05 0 0 0 9.464e-06 0 0 0 1.846e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747419266 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831923 . . . . . 3.VIII 0 8.497e-06 3.222e-05 0 0 0 9.249e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs747419266 10 82111611 G A - DYDC2 23468 DPY30 domain containing 2 NM_001270042.1 1 1736 576 NP_001256971.1 substitution intron GRCh37 82111611 82111611 Chr10(GRCh37):g.82111611G>A 33+7040 33+7040 NM_001270042.1:c.33+7040G>A p.? p.? 1 1 7040 5' 78.1641 8.59132 0.984956 4.43428 78.1641 8.59132 0.984956 4.43428 0 Cryptic Donor Strongly Activated 82111607 3.54629 0.168328 71.2105 3.768 0.836311 81.2911 rs747419266 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000032 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000032 2 0 1 0 0 0 1 0 0 235374 14848 31034 9258 16566 28548 108120 21800 5200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 53 Exomes transition G A G>A 0.000 1.255 255 PASS . . . . . . . . . . . . . . . . 0.5194805 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.3956 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0 0 2.383e-05 0 0 0 9.464e-06 0 0 0 1.846e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747419266 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831923 . . . . . 3.VIII 0 8.497e-06 3.222e-05 0 0 0 9.249e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs45529531 10 88451649 A G - LDB3 15710 LIM domain binding 3 NM_001171610.1 1 5436 2199 NP_001165081.1 substitution splice site GRCh37 88451649 88451649 Chr10(GRCh37):g.88451649A>G 894-4 894-4 NM_001171610.1:c.894-4A>G p.? p.? 7 6 605906 -4 3' 90.5427 7.63592 0.949651 6.44886 90.5427 8.36457 0.942188 7.79178 0.0291886 rs45529531 yes no Frequency/1000G 2 A uncertain_significance,benign,likely_benign 0.000000 0 0.006190 0.015100 0.000000 0.000000 0.007000 0.005800 0.002537 0.006328 0.005114 0.003153 0.000000 0.000032 0.002346 0.000271 0.005877 0.006328 703 152 176 32 0 1 297 7 38 277098 24020 34416 10150 18868 30782 126606 25790 6466 0.000036 0.000000 0.000058 0.000000 0.000000 0.000000 0.000047 0.000000 0.000309 5 0 1 0 0 0 3 0 1 693 152 174 32 0 1 291 7 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4376 12943 33 30 63 0.00383721 0.0068089 0.00484392 0.00383721 0.0068089 0.00484392 115 RCV000030120.1|RCV000405139.1|RCV000393351.1|RCV000288174.1|RCV000154455.5|RCV000347861.1 germline|germline|germline|germline|germline|germline|germline|germline|germline curation|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Likely benign|Conflicting interpretations of pathogenicity|VUS|VUS|Benign|VUS 1|1|1|1|2|1 Cardiomyopathy|Myofibrillar myopathy, ZASP-related|Myofibrillar Myopathy, Dominant|Dilated Cardiomyopathy, Dominant|not specified|Left ventricular noncompaction cardiomyopathy transition A G A>G 0.677 1.013 255 PASS 0.01 0.01 0.01 . 0.01 0.015 0.0062 0.0058 . 0.007 . . . . . . 0.4890511 . . germline 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Likely//\@benign//\%//\@Benign//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance Likely_benign|Benign|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000030120.1|RCV000154455.4|RCV000288174.1|RCV000347861.1|RCV000393351.1|RCV000405139.1 . MedGen:Orphanet:SNOMED_CT|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:OMIM:Orphanet C0878544:ORPHA167848:85898001|CN169374|CN239310|HP:0011664:CN167392|CN239446|C1836155:609452:ORPHA98912 2 . . . 137.0 . . . 0.0068 0.0048 0.0038 0.0068 0.0048 0.0038 . 0.5907 . . . . . . . . 2.328e-03 . . . 0.0076 0.0029 0.0042 0 0 0.0032 0.0070 0 0.0077 0.0023 0.0043 0 0.0002 0.0022 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0062 . . . 0.39 0.4 182 ENSG00000122367 LDB3 LDB3 . . . . . . 155 0.0023855 64976 124 0.00206715 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45529531 0.022 0.014 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNACC\x3dRCV000030120.1 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000030120.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0878544:85898001 CLINSIG\x3dprobable-non-pathogenic|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000030120.1|RCV000154455.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0878544:85898001|CN169374 CLINSIG\x3dprobable-non-pathogenic|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts\x3bCLNACC\x3dRCV000030120.1|RCV000154455.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0878544:85898001|CN169374 . . . . . . . . . . . . . . 0.0001 0 . 0.004844 . . . . . 0.0068 0.0025 0.0051 0.0031 0 0.0003 0.0023 0.0064 3.249e-05 0.0055 0.0030 0.0048 0.0033 0 0 0.0025 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs45529531 rs45529531 rs45529531 . 1 1538 10 1/0 0,245,255 +rs190063080 10 88769294 C T - AGAP11 29421 Ankyrin repeat and GTPase domain Arf GTPase activating protein 11 NM_133447.1 1 3155 1653 NP_597704.1 Q8TF27 substitution missense exon GRCh37 88769294 88769294 Chr10(GRCh37):g.88769294C>T 1285 1285 NM_133447.1:c.1285C>T p.Arg429Trp p.Arg429Trp 12 1183 3' 81.7812 8.64076 0.928954 5.33915 81.7812 8.64076 0.928954 5.33915 0 rs190063080 yes no Frequency/1000G 2 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000487 0.000544 0.001278 0.000000 0.000000 0.000227 0.000553 0.000000 0.000155 0.001278 135 13 44 0 0 7 70 0 1 277050 23896 34416 10152 18870 30782 126678 25792 6464 0.000014 0.000000 0.000116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 131 13 40 0 0 7 70 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4401 12994 7 1 8 0.000813953 0.000227169 0.00061529 0.000813953 0.000227169 0.00061529 168 transition C T C>T 1.000 0.851 R Arg CGG 0.207 W Trp TGG 1.000 429 -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 255 PASS . 0.0014 0.01 . . . . . . . . . . AGAP11:NM_133447:exon12:c.C1285T:p.R429W . . 0.5104895 . . @ 73 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R429W|AGAP11|mRNA|CODING|NM_133447|NM_133447.ex.12) 0.0002 0.0006 0.0008 0.0002 0.0006 0.0008 . -0.3655 . . . . . . . . 3.947e-04 . . . 0.0008 0.0004 0.0009 0 0 0.0005 0.0014 6.061e-05 0.0009 0.0004 0.0007 0 0 0.0004 0.0014 6.096e-05 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . 0.0000 . . . 0.52 0.28 182 . AGAP11 AGAP11 . . . . . . 18 0.000277025 64976 18 0.00030007 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190063080 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . . 0.0007 0.0005 0.0013 0 0 0 0.0006 0.0002 0.0002 0.0003 0.0003 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190063080 rs190063080 1 1538 10 1/0 0,247,255 +rs765608992 10 88769638 C T - AGAP11 29421 Ankyrin repeat and GTPase domain Arf GTPase activating protein 11 NM_133447.1 1 3155 1653 NP_597704.1 Q8TF27 substitution synonymous exon GRCh37 88769638 88769638 Chr10(GRCh37):g.88769638C>T 1629 1629 NM_133447.1:c.1629C>T p.Tyr543= p.Tyr543Tyr 12 1527 3' 81.7812 8.64076 0.928954 5.33915 81.7812 8.64076 0.928954 5.33915 0 rs765608992 yes no Frequency 1 C 0.000000 0 0.000026 0.000000 0.000090 0.000000 0.000000 0.000000 0.000030 0.000000 0.000000 0.000090 4 0 2 0 0 0 2 0 0 152380 9730 22320 4642 13598 16936 67022 14712 3420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 84 Exomes transition C T C>T 1.000 1.658 Y Tyr TAC 0.562 Y Tyr TAT 0.438 543 177 PASS . . . . . . . . . . . . . AGAP11:NM_133447:exon12:c.C1629T:p.Y543Y . . 0.10769231 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y543|AGAP11|mRNA|CODING|NM_133447|NM_133447.ex.12) . . . . . . . -0.0931 . . . . . . . . 1.640e-05 . . . 0 7.329e-05 0 0 0 0.0001 0 0 0 9.517e-05 0 0 0 0.0002 0 0 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.5 0.32 182 . AGAP11 AGAP11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs765608992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.625e-05 8.961e-05 0 0 0 2.984e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs74757729 rs74757729 1 1538 10 1/0 0,216,255 +. 10 88912087 C T - FAM35A 28773 Family with sequence similarity 35 member A NM_001330112.1 1 3660 2715 NP_001317041.1 substitution missense exon GRCh37 88912087 88912087 Chr10(GRCh37):g.88912087C>T 976 976 NM_001330112.1:c.976C>T p.His326Tyr p.His326Tyr 3 -550 5' 90.6189 10.0684 0.915259 0 90.6189 10.0684 0.915259 0 0 Cryptic Acceptor Weakly Activated 88912106 3.03045 0.010097 65.2033 3.13477 0.015366 65.2033 transition C T C>T 0.000 -0.198 H His CAC 0.587 Y Tyr TAC 0.562 326 12 8 Dog 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 238.69 56.13 Tolerated 0.16 III.15 182 PASS . . . . . . . . . . . . FAM35A:uc001kei.4:exon3:c.C976T:p.H326Y FAM35A:NM_019054:exon3:c.C976T:p.H326Y . . 0.11764706 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.138 . . 85.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H326Y|FAM35A|mRNA|CODING|NM_019054|NM_019054.ex.3) . . . . . . . -0.8072 -0.853 -0.807 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.237 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000122376 FAM35A FAM35A . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . 0.080 . . . . T 0.053 0.003 . . 37 . 0.232 . . 0.321 . . . 0.440 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.112 . . 0.080 . . . . . . 0 0.033 . . . . . 0.077 . 0.101 . LowAF 0.61 . . . . . . . . . . . . . III.17 . . 4.IX 1.I . 0.210000 Q86V20 . . . . . 0.060 . . . . . . . . . . . . . . . . . . . . . . 0.924 . 0.056 0.056000 . . 0.210000 . . 1.0E-182 0.000 0.063 . 0.321 0.323 . 0.079 . 0.324 0.056 0.871 . . . . . 1 1538 10 1/0 0,235,255 +rs781686464 10 88988048 C T - NUTM2A 23438 NUT family member 2A NM_001099338.1 1 3290 2637 NP_001092808.1 Q8IVF1 substitution synonymous exon GRCh37 88988048 88988048 Chr10(GRCh37):g.88988048C>T 411 411 NM_001099338.1:c.411C>T p.Thr137= p.Thr137Thr 2 29 3' 85.5424 XI.12 0.986129 15.705 85.5424 XI.12 0.986129 15.8147 0 rs781686464 yes no Frequency 1 0.000000 0 0.000174 0.000196 0.000061 0.000000 0.000226 0.000345 0.000138 0.000250 0.000342 0.000345 43 4 2 0 4 10 15 6 2 247712 20370 32564 9466 17720 29012 108774 23962 5844 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 4 2 0 4 10 15 6 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.924 T Thr ACC 0.361 T Thr ACT 0.243 137 190 PASS . . . . . . . . . . . . NUTM2A:uc001kek.3:exon2:c.C411T:p.T137T NUTM2A:NM_001099338:exon2:c.C411T:p.T137T . . 0.13636364 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T137|NUTM2A|mRNA|CODING|NM_001099338|NM_001099338.ex.2) . . . . . . . -0.5591 . . . . . . . . 1.388e-04 . . . 0.0006 0.0004 0.0003 0.0014 0 0.0002 0 0.0005 0.0008 0.0003 0.0003 0.0007 0 0.0001 0 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.3 182 ENSG00000184923 NUTM2A NUTM2A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781686464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.457e-05 0.0001 3.147e-05 0 0.0002 0 6.285e-05 0.0004 0.0003 0.0004 0.0007 0.0013 0 0 0.0018 0.0007 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs3871230 rs3871230 rs3871230 rs3871230 1 1538 10 1/0 0,255,255 +. 10 88988318 C T - NUTM2A 23438 NUT family member 2A NM_001099338.1 1 3290 2637 NP_001092808.1 Q8IVF1 substitution synonymous exon GRCh37 88988318 88988318 Chr10(GRCh37):g.88988318C>T 681 681 NM_001099338.1:c.681C>T p.Ala227= p.Ala227Ala 2 299 3' 85.5424 XI.12 0.986129 15.705 85.5424 XI.12 0.986129 15.705 0 0.000034 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 29250 8664 790 220 1622 0 13582 3476 896 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.000 -0.279 A Ala GCC 0.403 A Ala GCT 0.263 227 195 PASS . . . . . . . . . . . . NUTM2A:uc001kek.3:exon2:c.C681T:p.A227A NUTM2A:NM_001099338:exon2:c.C681T:p.A227A . . 0.14814815 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A227|NUTM2A|mRNA|CODING|NM_001099338|NM_001099338.ex.2) . . . . . . . -0.7939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184923 NUTM2A NUTM2A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.99 . ENST00000451286 I.29 -1.08 . . . . . . . . . . . . . . . . . . . . . 0.0001 3.419e-05 0 0 0 0 0 0 . . . . -0.265 -0.265000 . . . . . 9.999999999999999E-196 . . . . . . . . . -0.265 . . . . . . 1 1538 10 1/0 0,255,255 +rs752295330 10 89120266 C T - NUTM2D 23447 NUT family member 2D NM_001009610.1 1 5543 1674 NP_001009610.1 substitution synonymous exon GRCh37 89120266 89120266 Chr10(GRCh37):g.89120266C>T 195 195 NM_001009610.1:c.195C>T p.Thr65= p.Thr65Thr 2 29 3' 85.5424 XI.12 0.986129 15.705 85.5424 XI.12 0.986129 15.8147 0 rs752295330 yes no Frequency 1 C 0.000000 0 0.000067 0.000000 0.000000 0.000000 0.000936 0.000000 0.000106 0.000000 0.000000 0.000936 3 0 0 0 1 0 2 0 0 44484 4498 6196 1592 1068 6850 18880 4220 1180 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000106 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.008 -0.037 T Thr ACC 0.361 T Thr ACT 0.243 65 228 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T247|NUTM2D|Non-coding_transcript|NON_CODING|NR_075100|NR_075100.ex.2) . . . . . . . -0.2656 . . . . . . . . 6.420e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.19 0.23 182 ENSG00000214562 NUTM2D NUTM2D . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs752295330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.375e-05 0 0 0.0010 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs3871230 rs3871230 rs3871230 rs3871230 1 1538 10 1/0 0,255,255 +rs200273392 10 91505721 G A - KIF20B 7212 Kinesin family member 20B NM_001284259.1 1 6450 5463 NP_001271188.1 Q96Q89 substitution splice site GRCh37 91505721 91505721 Chr10(GRCh37):g.91505721G>A 4096+5 4096+5 NM_001284259.1:c.4096+5G>A p.? p.? 23 23 605498 5 5' 84.792 6.22623 0.818588 0 72.6405 1.98685 0.083479 0 -0.574074 rs200273392 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000148 0.000000 0.000000 0.000592 0.000000 0.000000 0.000269 0.000000 0.000155 0.000592 41 0 0 6 0 0 34 0 1 276686 24026 34390 10134 18816 30756 126394 25710 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 0 0 6 0 0 34 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 89 transition G A G>A 0.984 3.434 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.47727272 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.68 . . . . . . . . 1.421e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 8.599e-05 0 0 0 0.0002 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.32 0.29 182 ENSG00000138182 KIF20B KIF20B . . . . . . 11 0.000169293 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200273392 . . . . . . . . . . . . . . . . . . . . 0.9997 0.942 . 0.000231 . . . . V.31 0 0.0001 0 0.0006 0 0 0.0002 0 0 0 0.0003 0 0 0 0 0.0006 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200273392 rs200273392 1 1538 10 1/0 0,255,255 +rs368507225 10 93668174 C G - FGFBP3 23428 Fibroblast growth factor binding protein 3 NM_152429.4 -1 2564 777 NP_689642.3 Q8TAT2 substitution missense exon GRCh37 93668174 93668174 Chr10(GRCh37):g.93668174C>G 553 553 NM_152429.4:c.553G>C p.Ala185Pro p.Ala185Pro 2 631 3' 84.2402 14.0143 0.972312 9.91898 84.2402 14.0143 0.972312 9.91898 0 Cryptic Acceptor Strongly Activated 93668176 0.962491 0.000296 70.2213 1.13333 0.000962 70.2213 FGF binding 1 transversion G C G>C 0.000 0.609 A Ala GCT 0.263 P Pro CCT 0.283 185 10 6 Armadillo -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Deleterious 0.04 III.76 bad 3.564E-3 0.004704 255 PASS . . . . . . . . . . . ENSG00000174721:ENST00000311575:exon2:c.G553C:p.A185P . FGFBP3:NM_152429:exon2:c.G553C:p.A185P . . 0.3888889 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.397 . @ . . . . . 1 0.124 . . 108.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A185P|FGFBP3|mRNA|CODING|NM_152429|NM_152429.ex.2) . . . . . . . -0.4924 -0.711 -0.492 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.147 . . exonic exonic exonic . . 0.206 @ . . . 0.4 0.43 182 ENSG00000174721 FGFBP3 FGFBP3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.530 0.031 . . 37 . 0.180 . . 0.155 . . . 0.404 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.123 . . 0 0 0 0 0 0 . 0.588 . . 0.562 . . . . . . 0 0.285 . . . . . 0.214 . 0.298 . HET 0.11 . . . . . . . . . . . . . VI.43 . ENST00000311575 III.18 I.28 . 0.220000 Q8TAT2 . . . . . 0.101 . . . . . . . . . . . . . . . . . . . . . . 0.062 . 0.201 0.201000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.062 0.009 . 0.160 . 0.120 0.201 -0.032 . . . . . 1 1538 10 1/0 0,250,255 +rs72817264 10 95073040 G A - MYOF 3656 Myoferlin NM_013451.3 -1 6843 6186 NP_038479.1 Q9NZM1 substitution intron GRCh37 95073040 95073040 Chr10(GRCh37):g.95073040G>A 5699-73 5699-73 NM_013451.3:c.5699-73C>T p.? p.? 51 50 604603 -73 3' 80.6286 9.14905 0.877584 8.77667 80.6286 9.14905 0.877584 9.42839 0 rs72817264 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.005000 0.000000 0.003778 0.000229 0.000000 0.000000 0.000000 0.000000 0.005529 0.007732 0.005092 0.007732 117 2 0 0 0 0 83 27 5 30970 8724 838 302 1620 0 15012 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 2 0 0 0 0 83 27 5 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition C T C>T 0.150 0.448 255 PASS . . . . . . 0.0014 . . 0.005 0.002 . . . . . 0.48214287 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . 0.2068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.36 0.28 182 ENSG00000138119 MYOF MYOF . . . . . . 176 0.00270869 64976 169 0.00281732 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72817264 . 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0038 0 0 0 0.0077 0.0055 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72817264 rs72817264 rs72817264 1 1538 10 1/0 0,255,255 +rs185504138 10 95380244 G A - PDE6C 8787 Phosphodiesterase 6C, cGMP-specific, cone, alpha prime NM_006204.3 1 2970 2577 NP_006195.3 P51160 substitution intron GRCh37 95380244 95380244 Chr10(GRCh37):g.95380244G>A 481-145 481-145 NM_006204.3:c.481-145G>A p.? p.? 2 1 600827 -145 3' 87.0661 X.29 0.650479 7.79355 87.0661 X.29 0.650479 7.79355 0 Cryptic Donor Strongly Activated 95380240 0.008219 56.0766 0.485619 0.031101 66.1573 rs185504138 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000800 0.000000 0.000000 0.003000 0.000000 0.004360 0.000458 0.001196 0.003311 0.000000 0.000000 0.007599 0.003721 0.002041 0.007599 135 4 1 1 0 0 114 13 2 30964 8732 836 302 1618 0 15002 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 135 4 1 1 0 0 114 13 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.044 255 PASS . 0.0009 . . 0.0026 0.0008 0.0008 . . 0.003 . . . . . . 0.36734694 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . INTRON(MODIFIER||||PDE6C|mRNA|CODING|NM_006204|) . . . . . . . 0.0800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.23 0.37 182 ENSG00000095464 PDE6C PDE6C . . . . . . 249 0.00383218 64976 245 0.00408429 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185504138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0044 0.0012 0.0033 0 0.0037 0.0076 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs185504138 rs185504138 1 1538 10 1/0 0,255,255 +rs375505576 10 95653988 C T - SLC35G1 26607 Solute carrier family 35, member G1 NM_001134658.1 1 2403 1098 NP_001128130.1 Q2M3R5 substitution intron GRCh37 95653988 95653988 Chr10(GRCh37):g.95653988C>T 178+20 178+20 NM_001134658.1:c.178+20C>T p.? p.? 1 1 617167 20 5' 86.6769 9.89081 0.987177 13.876 86.6769 9.89081 0.987177 13.7406 0 rs375505576 yes no Frequency 1 C 0.000000 0 0.000807 0.000423 0.001608 0.000000 0.000000 0.000000 0.001267 0.000000 0.000000 0.001608 33 4 4 0 0 0 25 0 0 40884 9446 2488 688 1990 1088 19734 4270 1180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 4 4 0 0 0 25 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7868 3964 11832 8 0 8 0.00101574 0 0.000675676 0.00101574 0 0.000675676 5 transition C T C>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5652174 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . 0.0007 0.001 . 0.0007 0.001 . 1.0059 . . . . . . . . 2.299e-04 . . . 0 0.0005 0.0116 0 0 0 0 0 0 0.0006 0.0122 0 0 0 . 0 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.2 0.33 182 ENSG00000176273 BC036382 SLC35G1 . . . . . . 18 0.000277025 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375505576 . . . . . . . . . . . . . . . . . . . . . . . 0.000676 . . . . . 0 0.0010 0.0024 0 0 0 0.0012 0 0 0.0005 0.0008 0 0 0 0 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.001 . . rs375505576 . 1 1538 10 1/0 0,255,255 +rs140289143 10 96121505 T C - NOC3L 24034 NOC3-like DNA replication regulator NM_022451.10 -1 3492 2403 NP_071896.8 Q8WTT2 substitution missense exon GRCh37 96121505 96121505 Chr10(GRCh37):g.96121505T>C 134 134 NM_022451.10:c.134A>G p.Glu45Gly p.Glu45Gly 2 610769 -84 5' 87.6072 8.55395 0.969345 2.72754 87.6072 8.55395 0.969345 2.72754 0 Nucleolar complex-associated protein 3 rs140289143 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.008103 0.002330 0.003864 0.004236 0.000000 0.001170 0.013917 0.006515 0.007271 0.013917 2246 56 133 43 0 36 1763 168 47 277184 24032 34420 10150 18868 30782 126680 25788 6464 0.000094 0.000000 0.000058 0.000000 0.000000 0.000000 0.000189 0.000000 0.000000 13 0 1 0 0 0 12 0 0 2220 56 131 43 0 36 1739 168 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8475 4394 12869 125 12 137 0.0145349 0.00272356 0.0105336 0.0145349 0.00272356 0.0105336 269 transition A G A>G 1.000 4.483 E Glu GAA 0.417 G Gly GGA 0.246 45 13 10 Baker's yeast -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 157.03 29.89 Tolerated 0.07 II.92 255 PASS . 0.0018 . . 0.01 . 0.0014 . . 0.007 . . NOC3L:uc001kjq.1:exon2:c.A134G:p.E45G NOC3L:NM_022451:exon2:c.A134G:p.E45G . . 0.48214287 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.834 . @ . . . . . 1 0.988 . . 56.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E45G|NOC3L|mRNA|CODING|NM_022451|NM_022451.ex.2) 0.0027 0.011 0.015 0.0027 0.011 0.015 . 0.5618 0.591 0.562 c . . . . . 7.900e-03 . . . 0.0026 0.0070 0.0038 0 0.0055 0.0123 0.0042 0.0013 0.0028 0.0074 0.0035 0 0.0047 0.0123 0.0029 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.127 . . exonic exonic exonic . . 0.685 0.0014 . . . 0.39 0.45 182 ENSG00000173145 NOC3L NOC3L . . . 1.000 0.747 . 741 0.0114042 64976 734 0.0122362 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.176 . . 0.040 . . . 0.562 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.399 . . 0 0 0 0 0 0 . 0.764 . . 0.807 . . . . . . 0 0.599 . . . . . 0.699 . 0.342 . HET 0.01 rs140289143 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 14.8677 0.002408 . 5.IX 5.IX . 0.030000 Q8WTT2 . . Name\x3dnsv831946 0.010534 . 0.613 . . 5.IX 0.0024 0.0080 0.0039 0.0042 0 0.0065 0.0137 0.0073 0.0012 0.0023 0.0092 0.0036 0.0066 0 0.0066 0.0154 0.0071 . . 0.490 . 1.916 1.916000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.490 1.000 . 0.825 . 0.807 1.916 0.991 0.015 . . rs140289143 rs140289143 1 1538 10 1/0 0,255,255 +rs77195353 10 97137021 G A - SORBS1 14565 Sorbin and SH3 domain containing 1 NM_001034954.1 -1 7210 3879 NP_001030126.1 Q9BX66 substitution intron GRCh37 97137021 97137021 Chr10(GRCh37):g.97137021G>A 1654-1208 1654-1208 NM_001034954.1:c.1654-1208C>T p.? p.? 17 16 605264 -1208 3' 67.7194 4.1621 0.528049 0 67.7194 4.1621 0.528049 0 0 rs77195353 yes no Frequency/1000G 2 G 0.000000 0 0.006589 0.000800 0.002000 0.000000 0.022900 0.010100 0.009460 0.002290 0.011933 0.016556 0.000000 0.000000 0.014794 0.008300 0.007128 0.016556 293 20 10 5 0 0 222 29 7 30974 8734 838 302 1618 0 15006 3494 982 0.010239 0.000000 0.000000 0.000000 0.000000 0.000000 0.013514 0.000000 0.000000 3 0 0 0 0 0 3 0 0 287 20 10 5 0 0 216 29 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.609 255 PASS 0.0041 0.01 0.01 . 0.01 0.0008 0.0066 0.01 . 0.023 0.002 . . . . . 0.41509435 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.2254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0066 . . . 0.27 0.26 182 ENSG00000095637 SORBS1 SORBS1 . . . . . . 1149 0.0176835 64976 1116 0.0186043 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77195353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.V . . . . . . . . . 0.0023 0.0095 0.0119 0.0166 0 0.0083 0.0148 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs77195353 rs77195353 1 1538 10 1/0 0,255,255 +. 10 99213455 C T - ZDHHC16 20714 Zinc finger, DHHC-type containing 16 NM_032327.3 1 1841 1134 NP_115703.2 Q969W1 substitution intron GRCh37 99213455 99213455 Chr10(GRCh37):g.99213455C>T 690+35 690+35 NM_032327.3:c.690+35C>T p.? p.? 6 6 616750 35 5' 86.8044 8.70331 0.979158 I.04 86.8044 8.70331 0.979158 1.41059 0 Cryptic Acceptor Strongly Activated 99213473 0.000134 66.8871 0.029852 0.000156 66.8871 transition C T C>T 0.000 1.335 255 PASS . . . . . . . . . . . . . . . . 0.5205479 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.6654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000171307 ZDHHC16 ZDHHC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +rs780026074 10 101610499 A G - ABCC2 53 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392.4 1 5446 4638 NP_000383.1 Q92887 substitution missense exon GRCh37 101610499 101610499 Chr10(GRCh37):g.101610499A>G 4454 4454 NM_000392.4:c.4454A>G p.His1485Arg p.His1485Arg 31 601107 -55 5' 83.5016 9.09532 0.945114 X.23 83.5016 9.09532 0.945114 X.06 0 Cryptic Acceptor Strongly Activated 101610508 2.01995 0.009971 68.1958 2.53111 0.013694 68.1958 ABC transporter-like Multi drug resistance-associated protein ATPase, AAA+ type, core rs780026074 yes no Frequency 1 A uncertain_significance 0.000000 0 0.000047 0.000042 0.000000 0.000000 0.000000 0.000000 0.000087 0.000000 0.000155 0.000087 13 1 0 0 0 0 11 0 1 277234 24034 34420 10152 18870 30782 126714 25794 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 0 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000266434.1 germline clinical testing VUS 1 Dubin-Johnson syndrome transition A G A>G 1.000 3.192 H His CAC 0.587 R Arg CGC 0.190 1485 12 6 Zebrafish 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 231.68 28.37 Tolerated 0.07 III.13 255 PASS . . . . . . . . . . . ENSG00000023839:ENST00000370449:exon31:c.A4454G:p.H1485R ABCC2:uc001kqf.2:exon31:c.A4454G:p.H1485R ABCC2:NM_000392:exon31:c.A4454G:p.H1485R . . 0.4385965 . . germline 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.499 . Uncertain//\@significance Uncertain_significance RCV000266434.1 Dubin-Johnson_syndrome MedGen:OMIM:Orphanet:SNOMED_CT C0022350:237500:ORPHA234:44553005 1 0.502 . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H1485R|ABCC2|mRNA|CODING|NM_000392|NM_000392.ex.31) . . . . . . . -0.0659 0.133 -0.066 c . . . . . 1.578e-05 . . . 0 2.204e-05 0 0 0 4.746e-05 0 0 0 9.415e-06 0 0 0 1.84e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.770 . . exonic exonic exonic . . 0.655 @ . . . . . . ENSG00000023839 ABCC2 ABCC2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.368 . . . . D 0.548 0.033 . . 37 . 0.610 . . 0.637 . . . 0.103 0.337 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.267 . . 0.275 . . . . . . 0 0.555 . . . . . 0.696 . 0.195 . HET 0.01 rs780026074 . . . . . . . . . . . . 14.8293 . ENST00000370449 IV.98 IV.98 . 0.010000 Q92887 . . . . . 0.460 . . IV.98 0 3.655e-05 0 0 0 0 7.162e-05 0.0002 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . 0.197 . 2.090 2.090000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.407 0.995 . 0.709 . 0.885 2.090 1.058 . . . . . 1 1538 10 1/0 0,252,255 +rs372003127 10 101639989 C T - DNMBP 30373 Dynamin binding protein NM_015221.3 -1 6440 4734 NP_056036.1 Q6XZF7 substitution missense exon GRCh37 101639989 101639989 Chr10(GRCh37):g.101639989C>T 4127 4127 NM_015221.3:c.4127G>A p.Arg1376His p.Arg1376His 16 611282 130 3' 84.6508 9.71778 0.899785 9.63838 84.6508 9.71778 0.899785 9.63838 0 rs372003127 yes no Frequency 1 C 0.000000 0 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 0.000047 6 0 0 0 0 0 6 0 0 277158 24030 34418 10152 18868 30778 126664 25780 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 70 transition G A G>A 0.992 5.048 R Arg CGC 0.190 H His CAC 0.587 1376 12 10 Zebrafish 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 244.41 0.00 Deleterious 0.04 III.32 255 PASS . . . . . . . . . . . . . DNMBP:NM_015221:exon16:c.G4127A:p.R1376H . . 0.41584158 . . @ 42 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.956 . @ . . . . . 1 1.000 . . 101.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1376H|DNMBP|mRNA|CODING|NM_015221|NM_015221.ex.16) . 0.0001 0.0001 . 0.0001 0.0001 . 0.6969 0.667 0.697 c . . . . . 2.368e-05 . . . 0 1.106e-05 0 0 0 2.385e-05 0 0 0 2.832e-05 0 0 0 5.539e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.786 @ . . . 0.34 0.4 182 ENSG00000107554 DNMBP DNMBP . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.421 . . . . D 0.749 0.087 . . 37 . 0.632 . . 0.641 . . . 0.691 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.682 . . . . . 0.852 . 0.703 . HET 0 rs372003127 . . . . . . . . . . . . 16.7312 0.0 . V.42 V.42 . 0.070000 . . . Name\x3dnsv831960 0.000077 . 0.771 . . V.42 0 2.031e-05 0 0 0 0 4.477e-05 0 0 0 3.23e-05 0 0 0 0 6.669e-05 0 . . 0.522 . 2.551 2.551000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.277 0.596 . 0.615 . 0.450 2.551 0.868 0.0001 . . rs372003127 . 1 1538 10 1/0 0,255,255 +rs764609123 10 102766476 G A - LZTS2 29381 Leucine zipper, putative tumor suppressor 2 NM_001318099.1 1 2782 2010 NP_001305028.1 Q9BRK4 substitution missense exon GRCh37 102766476 102766476 Chr10(GRCh37):g.102766476G>A 1561 1561 NM_001318099.1:c.1561G>A p.Glu521Lys p.Glu521Lys 5 610454 235 3' 79.5733 XI.29 0.88818 14.9478 79.5733 XI.29 0.88818 14.9478 0 rs764609123 yes no Frequency 1 G 0.000000 0 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 0.000095 11 0 0 0 0 0 11 0 0 258302 22548 32876 9412 18262 29650 115498 24032 6024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.992 4.160 E Glu GAG 0.583 K Lys AAG 0.575 521 12 9 Zebrafish 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 135.14 34.45 Deleterious 0.05 3.VI 255 PASS . . . . . . . . . . . . . LZTS2:NM_032429:exon5:c.G1561A:p.E521K . . 0.42553192 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.980 . . 47.0 . . . . . . . . . . 0.4517 0.461 0.452 c . . . . . 3.167e-05 . . . 0 6.553e-05 0 0 0 0.0001 0 0 0 4.154e-05 0 0 0 7.692e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.512 . . exonic exonic exonic . . 0.572 @ . . . . . . ENSG00000107816 LZTS2 LZTS2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.348 . . . . T 0.442 0.021 . . 37 . 0.552 . . 0.508 . . . 0.743 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . 0.518 . . 0.585 . . . . . . 1 0.546 . . . . . 0.676 . 0.533 . HET 0.01 rs764609123 . . . . . . . . . . . . 14.5681 . . V.56 IV.64 . 0.300000 Q9BRK4 . . . . . 0.751 . . IV.64 0 3.958e-05 0 0 0 0 8.955e-05 0 0 0 6.464e-05 0 0 0 0 0.0001 0 . . 0.924 . 1.304 1.304000 . . 0.300000 . . 1.0E-255 1.000 0.715 . 0.381 0.735 . 0.631 . 0.162 1.304 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs764609123 10 102766476 G A - PDZD7 26257 PDZ domain containing 7 NM_001195263.1 -1 4136 3102 NP_001182192.1 substitution downstream GRCh37 102766476 102766476 Chr10(GRCh37):g.102766476G>A *1748 *1748 NM_001195263.1:c.*1748C>T p.? p.? 17 612971 2132 3' 72.3057 8.05734 0.870466 VII.12 72.3057 8.05734 0.870466 VII.12 0 rs764609123 yes no Frequency 1 G 0.000000 0 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 0.000095 11 0 0 0 0 0 11 0 0 258302 22548 32876 9412 18262 29650 115498 24032 6024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 4.160 255 PASS . . . . . . . . . . . . . LZTS2:NM_032429:exon5:c.G1561A:p.E521K . . 0.42553192 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.980 . . 47.0 . . . . . . . . . . 0.4517 0.461 0.452 c . . . . . 3.167e-05 . . . 0 6.553e-05 0 0 0 0.0001 0 0 0 4.154e-05 0 0 0 7.692e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.512 . . exonic exonic exonic . . 0.572 @ . . . . . . ENSG00000107816 LZTS2 LZTS2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.348 . . . . T 0.442 0.021 . . 37 . 0.552 . . 0.508 . . . 0.743 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . 0.518 . . 0.585 . . . . . . 1 0.546 . . . . . 0.676 . 0.533 . HET 0.01 rs764609123 . . . . . . . . . . . . 14.5681 . . V.56 IV.64 . 0.300000 Q9BRK4 . . . . . 0.751 . . IV.64 0 3.958e-05 0 0 0 0 8.955e-05 0 0 0 6.464e-05 0 0 0 0 0.0001 0 . . 0.924 . 1.304 1.304000 . . 0.300000 . . 1.0E-255 1.000 0.715 . 0.381 0.735 . 0.631 . 0.162 1.304 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs564150396 10 102770315 A G - PDZD7 26257 PDZ domain containing 7 NM_001195263.1 -1 4136 3102 NP_001182192.1 substitution synonymous exon GRCh37 102770315 102770315 Chr10(GRCh37):g.102770315A>G 2331 2331 NM_001195263.1:c.2331T>C p.Arg777= p.Arg777Arg 15 612971 -287 5' 91.5096 8.83039 0.995433 7.93504 91.5096 8.83039 0.995433 7.93504 0 rs564150396 yes no Frequency 1 G 0.000000 0 0.000167 0.000069 0.000257 0.000000 0.000000 0.000145 0.000251 0.000000 0.000000 0.000257 25 1 6 0 0 3 15 0 0 149476 14556 23360 7452 11392 20682 59722 7986 4326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 1 6 0 0 3 15 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.024 -0.844 R Arg CGT 0.082 R Arg CGC 0.190 777 222 PASS . . . . . . . . . . . . PDZD7:uc021pxc.1:exon15:c.T2331C:p.R777R PDZD7:NM_001195263:exon15:c.T2331C:p.R777R . . 0.21904762 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.6770 . . . . . . . . 6.431e-04 . . . 0 0.0004 0 0 0 0 0 0.0007 0 0.0005 0 0 0 0 0 0.0007 . synonymous_SNV synonymous_SNV . . . UTR3 exonic exonic . . . @ . . . . . . ENSG00000186862 PDZD7 PDZD7 ENST00000474125:c.*2278T>C . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs564150396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0.0003 0 0 0 8.838e-05 0 0.0001 0.0001 0.0004 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +rs7923674 10 104235808 G T - MFSD13A 26196 Major facilitator superfamily domain containing 13A NM_024789.3 1 2834 1554 NP_079065.2 Q14CX5 substitution 3'UTR GRCh37 104235808 104235808 Chr10(GRCh37):g.104235808G>T *67 *67 NM_024789.3:c.*67G>T p.? p.? 10 330 3' 83.3797 XI.95 0.967874 10.0263 83.3797 XI.95 0.967874 10.0263 0 rs7923674 yes no Frequency/1000G 2 0.000000 0 0.369609 0.240500 0.411000 0.437500 0.374800 0.451000 0.000896 0.000527 0.000000 0.000000 0.000000 0.000000 0.000932 0.004847 0.000000 0.004847 21 4 0 0 0 0 11 6 0 23436 7594 478 262 1404 0 11808 1238 652 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion G T G>T 0.268 0.044 255 PASS . . . . . 0.24 0.37 0.45 0.44 0.37 0.41 . . . . . 0.7777778 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 9.0 . . . . . . . . . . -0.4632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.3696 . . . 0.4 0.67 182 ENSG00000138111 TMEM180 MFSD13A . . NM_024789:c.*67G>T . . . 639 0.0098344 64976 493 0.00821858 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7923674 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv895970 . . . . . . . . . . . . . . . 0.0005 0.0009 0 0 0 0.0048 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs7923674 . 1 1538 10 1/0 0,255,255 +rs74400964 10 111877234 A G - ADD3 245 Adducin 3 NM_001320591.1 1 4382 2121 NP_001307520.1 Q9UEY8 substitution intron GRCh37 111877234 111877234 Chr10(GRCh37):g.111877234A>G 567+54 567+54 NM_001320591.1:c.567+54A>G p.? p.? 6 6 601568 54 5' 59.7068 0 0.037326 0 59.7068 0 0.037326 0 0 rs74400964 yes no Frequency/1000G 2 0.000000 0 0.003594 0.003000 0.001000 0.000000 0.008000 0.007200 0.005945 0.001031 0.010740 0.003311 0.000000 0.000000 0.006805 0.015777 0.008163 0.015777 184 9 9 1 0 0 102 55 8 30948 8730 838 302 1622 0 14990 3486 980 0.010870 0.000000 0.111111 0.000000 0.000000 0.000000 0.000000 0.018182 0.000000 2 0 1 0 0 0 0 1 0 180 9 7 1 0 0 102 53 8 0 0 0 0 0 0 0 0 0 PASS 38 Genomes 3159 1381 4540 23 3 26 0.00722816 0.00216763 0.00569426 0.00722816 0.00216763 0.00569426 79 transition A G A>G 0.000 1.497 255 PASS 0.002 0.0037 0.01 . 0.01 0.003 0.0036 0.0072 . 0.008 0.001 . . . . . 0.4117647 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0022 0.0057 0.0072 0.0022 0.0057 0.0072 . 0.5839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.69 0.22 182 ENSG00000148700 ADD3 ADD3 . . . . . . 485 0.00746429 64976 467 0.00778515 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74400964 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7211 0.005694 . . . . III.94 . . . . . . . . . 0.0010 0.0059 0.0107 0.0033 0 0.0158 0.0068 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs74400964 rs74400964 1 1538 10 1/0 0,255,255 +rs55796896 10 114057872 T C - MIR6715A 49996 MicroRNA 6715a NR_106771.1 1 79 0 substitution upstream GRCh37 114057872 114057872 Chr10(GRCh37):g.114057872T>C -1498 -1498 NR_106771.1:n.-1498T>C p.? p.? 1 rs55796896 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.006000 0.002900 0.002121 0.000791 0.001772 0.000591 0.000000 0.000682 0.003592 0.000388 0.002474 0.003592 588 19 61 6 0 21 455 10 16 277194 24030 34420 10148 18868 30782 126688 25790 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 586 19 61 6 0 21 453 10 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4400 12961 39 6 45 0.00453488 0.00136178 0.00345994 0.00453488 0.00136178 0.00345994 149 transition T C T>C 0.142 -1.651 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0029 . 0.006 . ENSG00000119913:ENST00000369422:exon7:c.T717C:p.D239D TECTB:uc001kzr.1:exon7:c.T717C:p.D239D TECTB:NM_058222:exon7:c.T717C:p.D239D . . 0.4122807 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . 0.0014 0.0035 0.0045 0.0014 0.0035 0.0045 . 0.6218 . . . . . . . . 1.981e-03 . . . 0.0010 0.0022 0.0016 0 0.0008 0.0038 0.0014 0.0005 0.0011 0.0018 0.0015 0 0.0005 0.0028 0.0014 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.33 0.13 182 ENSG00000119913 TECTB TECTB . . . . . . 187 0.00287799 64976 179 0.00298403 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs55796896 . . . . . . . . . . . . . . . . . . . . . . . 0.003460 . . . . . 0.0009 0.0022 0.0018 0.0006 0 0.0004 0.0036 0.0026 0.0007 0.0006 0.0019 0.0012 0 0 0 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0045 rs55796896 rs55796896 rs55796896 rs55796896 1 1538 10 1/0 0,246,255 +rs55796896 10 114057872 T C - MIR6715B 50249 MicroRNA 6715b NR_106772.1 -1 77 0 substitution downstream GRCh37 114057872 114057872 Chr10(GRCh37):g.114057872T>C *1498 *1498 NR_106772.1:n.*1498A>G p.? p.? 1 rs55796896 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.006000 0.002900 0.002121 0.000791 0.001772 0.000591 0.000000 0.000682 0.003592 0.000388 0.002474 0.003592 588 19 61 6 0 21 455 10 16 277194 24030 34420 10148 18868 30782 126688 25790 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 586 19 61 6 0 21 453 10 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4400 12961 39 6 45 0.00453488 0.00136178 0.00345994 0.00453488 0.00136178 0.00345994 149 transition A G A>G 0.142 -1.651 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0029 . 0.006 . ENSG00000119913:ENST00000369422:exon7:c.T717C:p.D239D TECTB:uc001kzr.1:exon7:c.T717C:p.D239D TECTB:NM_058222:exon7:c.T717C:p.D239D . . 0.4122807 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . 0.0014 0.0035 0.0045 0.0014 0.0035 0.0045 . 0.6218 . . . . . . . . 1.981e-03 . . . 0.0010 0.0022 0.0016 0 0.0008 0.0038 0.0014 0.0005 0.0011 0.0018 0.0015 0 0.0005 0.0028 0.0014 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.33 0.13 182 ENSG00000119913 TECTB TECTB . . . . . . 187 0.00287799 64976 179 0.00298403 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs55796896 . . . . . . . . . . . . . . . . . . . . . . . 0.003460 . . . . . 0.0009 0.0022 0.0018 0.0006 0 0.0004 0.0036 0.0026 0.0007 0.0006 0.0019 0.0012 0 0 0 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0045 rs55796896 rs55796896 rs55796896 rs55796896 1 1538 10 1/0 0,246,255 +rs55796896 10 114057872 T C - TECTB 11721 Tectorin beta NM_058222.2 1 2792 990 NP_478129.1 Q96PL2 substitution synonymous exon GRCh37 114057872 114057872 Chr10(GRCh37):g.114057872T>C 717 717 NM_058222.2:c.717T>C p.Asp239= p.Asp239Asp 7 602653 46 3' 75.3908 6.24126 0.785392 8.00726 75.3908 6.24126 0.785392 8.32781 0 Zona pellucida sperm-binding protein rs55796896 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.006000 0.002900 0.002121 0.000791 0.001772 0.000591 0.000000 0.000682 0.003592 0.000388 0.002474 0.003592 588 19 61 6 0 21 455 10 16 277194 24030 34420 10148 18868 30782 126688 25790 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 586 19 61 6 0 21 453 10 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4400 12961 39 6 45 0.00453488 0.00136178 0.00345994 0.00453488 0.00136178 0.00345994 149 transition T C T>C 0.142 -1.651 D Asp GAT 0.461 D Asp GAC 0.539 239 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0029 . 0.006 . ENSG00000119913:ENST00000369422:exon7:c.T717C:p.D239D TECTB:uc001kzr.1:exon7:c.T717C:p.D239D TECTB:NM_058222:exon7:c.T717C:p.D239D . . 0.4122807 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . 0.0014 0.0035 0.0045 0.0014 0.0035 0.0045 . 0.6218 . . . . . . . . 1.981e-03 . . . 0.0010 0.0022 0.0016 0 0.0008 0.0038 0.0014 0.0005 0.0011 0.0018 0.0015 0 0.0005 0.0028 0.0014 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.33 0.13 182 ENSG00000119913 TECTB TECTB . . . . . . 187 0.00287799 64976 179 0.00298403 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs55796896 . . . . . . . . . . . . . . . . . . . . . . . 0.003460 . . . . . 0.0009 0.0022 0.0018 0.0006 0 0.0004 0.0036 0.0026 0.0007 0.0006 0.0019 0.0012 0 0 0 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0045 rs55796896 rs55796896 rs55796896 rs55796896 1 1538 10 1/0 0,246,255 +. 10 115485541 C A - CASP7 1508 Caspase 7 NM_001267057.1 1 2622 1167 NP_001253986.1 substitution intron GRCh37 115485541 115485541 Chr10(GRCh37):g.115485541C>A 807+245 807+245 NM_001267057.1:c.807+245C>A p.? p.? 5 5 601761 245 5' 81.8287 6.98734 0.856403 0 81.8287 6.98734 0.856403 0 0 transversion C A C>A 0.441 0.528 252 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000165806 CASP7 CASP7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 115950812 G C - TDRD1 11712 Tudor domain containing 1 NM_198795.1 1 4510 3570 NP_942090.1 substitution intron GRCh37 115950812 115950812 Chr10(GRCh37):g.115950812G>C 384+34 384+34 NM_198795.1:c.384+34G>C p.? p.? 3 3 605796 34 5' 78.5672 8.54212 0.950217 0 78.5672 8.54212 0.950217 0 0 Cryptic Acceptor Strongly Activated 115950819 1.73836 0.00071 68.5957 3.39628 0.003325 72.1529 transversion G C G>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.53333336 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||TDRD1|mRNA|CODING|NM_198795|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000095627 TDRD1 TDRD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs369534363 10 117971143 C G - GFRA1 4243 GDNF family receptor alpha 1 NM_001348097.1 -1 9600 1398 NP_001335026.1 P56159 substitution missense exon GRCh37 117971143 117971143 Chr10(GRCh37):g.117971143C>G 433 433 NM_001348097.1:c.433G>C p.Val145Leu p.Val145Leu 5 601496 -1 5' 99.6933 X.84 0.997678 2.32649 86.3823 X.52 0.992933 0 -0.0540667 rs369534363 yes no Frequency 1 C 0.000000 0 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 0.000111 8 0 0 0 0 0 8 0 0 179484 16298 24770 8530 11854 22808 71952 18482 4790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4233 2006 6239 1 0 1 0.000236183 0 0.000160256 0.000236183 0 0.000160256 85 transversion G C G>C 1.000 1.981 V Val GTG 0.468 L Leu CTG 0.404 145 12 7 Dog 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 262.60 16.18 Tolerated 0.33 III.53 255 PASS . . . . . . . . . . . . GFRA1:uc001lcj.3:exon5:c.G433C:p.V145L GFRA1:NM_005264:exon5:c.G433C:p.V145L . . 0.4878049 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.347 . @ . . . . . 1 0.441 . . 41.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.0341 0.172 -0.034 c . . . . . 1.095e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 6.632e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.293 . . exonic exonic exonic . . 0.640 @ . . . 0.22 0.37 182 ENSG00000151892 GFRA1 GFRA1 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.357 0.015 . . 37 . 0.398 . . 0.207 . . . 0.281 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.154 . . 0.139 . . . . . . 2 . . . . . . 0.400 . 0.408 . HET 0.36 rs369534363 . . . . . . . . . . . . IX.04 0.0 ENST00000439649 V.82 IV.92 . . P56159 0.9737 0.714 . 0.000160 . 0.369 . . IV.92 0 4.713e-05 0 0 0 0 0.0001 0 0 0 3.23e-05 0 0 0 0 6.666e-05 0 . . 0.133 . 2.748 2.748000 . . . . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.420 . 0.490 2.748 0.871 0.0002 . . rs369534363 . 1 1538 10 1/0 0,255,255 +rs3010502 10 118380511 A G - PNLIPRP2 9157 Pancreatic lipase-related protein 2 NR_103727.1 1 1480 0 substitution intron GRCh37 118380511 118380511 Chr10(GRCh37):g.118380511A>G 26+21 26+21 NR_103727.1:n.26+21A>G p.? p.? 1 1 604423 21 5' 91.1822 11.0134 0.995469 8.05115 91.1822 11.0134 0.995469 8.83385 0 Cryptic Acceptor Strongly Activated 118380516 0.854647 0.000625 2.13841 0.000635 73.204 rs3010502 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999960 0.999957 1.000000 1.000000 0.999773 0.999922 0.999974 1.000000 1.000000 1.000000 251188 23185 29750 8184 17620 25632 117431 23604 5782 251198 23186 29750 8184 17624 25634 117434 23604 5782 0.999920 0.999914 1.000000 1.000000 0.999546 0.999844 0.999949 1.000000 1.000000 125589 11592 14875 4092 8808 12815 58714 11802 2891 10 1 0 0 4 2 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 1 1 8278 3919 12197 0 0.000255102 8.19807e-05 1 0.999745 0.999918 31 transition A G A>G 0.000 -0.521 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . 1. 1. 1. 1. 1. 1. . . . . . . . . . . 1.000 . . . 0.9998 1.0000 1 0.9998 1 1.0000 1 1 0.9997 0.9999 1 0.9997 1 1.0000 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.28 0.29 182 ENSG00000165862 PNLIPRP2 PNLIPRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . 0.999918 . . . . . 0.9999 1.0000 1 1 0.9998 1 1.0000 1 0.9999 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs3010502 rs3010502 rs3010502 rs3010502 1 1538 255 1.I 0,0,255 +rs142496257 10 123792509 A T - TACC2 11523 Transforming, acidic coiled-coil containing protein 2 NM_206862.3 1 9696 8847 NP_996744.3 O95359 substitution intron GRCh37 123792509 123792509 Chr10(GRCh37):g.123792509A>T 33+10980 33+10980 NM_206862.3:c.33+10980A>T p.? p.? 2 2 605302 10980 5' 85.557 8.56441 0.888827 8.63373 85.557 8.56441 0.888827 8.63373 0 rs142496257 yes no Frequency/1000G 2 0.000000 0 0.000079 0.000000 0.000000 0.000000 0.000000 0.000000 0.000076 0.000319 0.000000 0.000319 2 0 0 0 0 0 1 1 0 25166 5560 700 284 1386 0 13244 3134 858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 52 Genomes transversion A T A>T 0.000 0.367 251 PASS 0.01 0.12 0.13 0.12 0.18 . . . . . . . . . . . 0.31578946 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.1 182 ENSG00000138162 TACC2 TACC2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142496257 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832009 . . . . . . . . . . . . . . . 0 7.947e-05 0 0 0 0.0003 7.551e-05 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . 0.18 . . rs142496257 rs142496257 1 1538 10 1/0 0,255,255 +rs61753073 10 123845115 G A - TACC2 11523 Transforming, acidic coiled-coil containing protein 2 NM_206862.3 1 9696 8847 NP_996744.3 O95359 substitution missense exon GRCh37 123845115 123845115 Chr10(GRCh37):g.123845115G>A 3100 3100 NM_206862.3:c.3100G>A p.Glu1034Lys p.Glu1034Lys 4 605302 -2360 5' 76.822 8.17044 0.764444 7.74994 76.822 8.17044 0.764444 7.74994 0 rs61753073 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.003078 0.000632 0.001540 0.015919 0.000000 0.000877 0.004358 0.000582 0.004653 0.015919 849 15 53 161 0 27 548 15 30 275852 23728 34412 10114 18844 30778 125738 25790 6448 0.000007 0.000000 0.000000 0.000198 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 847 15 53 159 0 27 548 15 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4403 12952 51 3 54 0.00593023 0.00068089 0.00415193 0.00593023 0.00068089 0.00415193 37 COSM228139|COSM228139 Skin|Large intestine 0.000812|0.000443 1232|2257 transition G A G>A 0.575 1.820 E Glu GAG 0.583 K Lys AAG 0.575 1034 12 7 Dog 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Deleterious 0 III.81 255 PASS . 0.0009 . . 0.0026 . 0.0012 0.0014 . 0.005 . . . . . . 0.33333334 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.289 . @ . . . . . 1 0.959 . . 117.0 . . . 0.0007 0.0042 0.0059 0.0007 0.0042 0.0059 . -0.2397 -0.286 -0.240 c . . . . . 3.191e-03 . . . 0.0006 0.0033 0.0015 0 0.0003 0.0062 0.0028 0.0008 0.0006 0.0031 0.0015 0 0.0005 0.0054 0.0029 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.048 . . exonic exonic exonic . . 0.500 0.0012 . . . 0.5 0.44 182 ENSG00000138162 TACC2 TACC2 . . . 1.000 0.747 . 244 0.00375523 64976 238 0.00396759 59986 Uncertain_significance . 0 . 0.372 . . . . T 0.127 0.005 . . 37 . 0.037 . . 0.244 . . . 0.440 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.214 . . 0 0 0 0 0 0 . 0.467 . . 0.374 . . . . . . 1 0.912 . . . . . 0.395 . 0.628 . HET 0 rs61753073 . 0.058 . . . . ID\x3dCOSM228139\x3bOCCURENCE\x3d1(skin) 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IX.49 8.03E-4 . V.25 IV.28 . 0.030000 . . . . 0.004152 . 0.201 . . IV.28 0.0004 0.0032 0.0016 0.0161 0 0.0006 0.0045 0.0051 0.0009 0.0010 0.0021 0 0.0099 0 0.0006 0.0033 0.0020 . . 0.372 . 1.098 1.098000 . . 0.030000 . . 1.0E-255 0.003 0.159 . 0.259 0.018 . 0.283 . 0.658 1.098 0.917 0.0059 rs61753073 rs61753073 rs61753073 rs61753073 1 1538 10 1/0 0,239,255 +rs141757453 10 124342118 C T - DMBT1 2926 Deleted in malignant brain tumors 1 NM_007329.2 1 7686 7242 NP_015568.2 Q9UGM3 substitution missense exon GRCh37 124342118 124342118 Chr10(GRCh37):g.124342118C>T 1069 1069 NM_007329.2:c.1069C>T p.Pro357Ser p.Pro357Ser 13 601969 3 3' 84.4429 11.0685 0.953467 7.73274 84.4429 11.282 0.950918 VII.31 0.00553877 Speract/scavenger receptor-related rs141757453 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -0.198 P Pro CCT 0.283 S Ser TCT 0.185 357 11 3 Grenn anole -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.7 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.4659091 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.066 . . 88.0 . . . . . . . . . . -1.4768 -1.510 -1.477 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.267 . . exonic exonic exonic . . 0.063 @ . . . 0.42 0.38 182 ENSG00000187908 DMBT1 DMBT1 . . . 0.000 0.050 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.119 0.005 . . 37 . 0.094 . . 0.331 . . . 0.033 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.181 . . 0 0 0 0 0 0 . 0.090 . . 0.080 . . . . . . 1 0.032 . . . . . 0.017 . 0.036 . HET 0.59 rs141757453 . . . . . . . . . . . . 1.1471 . . 3.VI -2.35 . 0.430000 . . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.314 -0.314000 . . 0.430000 . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.020 . 0.006 -0.314 -2.628 . rs2277240 rs2277240 rs2277240 rs141757453 1 1538 10 1/0 0,255,255 +rs144450471 10 124354821 C T - DMBT1 2926 Deleted in malignant brain tumors 1 NM_007329.2 1 7686 7242 NP_015568.2 Q9UGM3 substitution missense exon GRCh37 124354821 124354821 Chr10(GRCh37):g.124354821C>T 2566 2566 NM_007329.2:c.2566C>T p.Pro856Ser p.Pro856Ser 23 601969 3 3' 84.4429 11.0685 0.953467 7.73274 84.4429 11.282 0.950918 VII.31 0.00553877 Speract/scavenger receptor-related rs144450471 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.000 -2.700 P Pro CCT 0.283 S Ser TCT 0.185 856 11 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Not scored 0.0 0.0 good 9.706E-1 0.627 255 PASS . . . . . . . . . . . . . . . . 0.3783784 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.078 . . 74.0 . . . . . . . . . . -2.4737 -2.532 -2.474 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.267 . . exonic exonic exonic . . 0.015 @ . . . 0.46 0.47 182 ENSG00000187908 DMBT1 DMBT1 . . . 0.193 0.180 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.127 0.005 . . 37 . 0.093 . . 0.306 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.167 . . 0.179 . . . . . . 0 0.026 . . . . . 0.189 . 0.024 . HET 0.75 rs144450471 . . . . . . . . . . . . 6.0494 . . III.42 -6.85 . 0.660000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.693 -2.693000 . . 0.660000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.001 . 0.000 -2.693 -2.429 . rs2277240 rs2277240 rs2277240 rs144450471 1 1538 10 1/0 0,255,255 +rs76203768 10 126683151 C T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683151 126683151 Chr10(GRCh37):g.126683151C>T 2287 2287 NM_022802.2:c.2287G>A p.Val763Met p.Val763Met 5 602619 102 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.28141 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs76203768 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000027 3 0 0 0 0 0 3 0 0 246106 15304 33582 9850 17248 30782 111558 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 80 Exomes COSM1603119|COSM1603119|COSM1603119|COSM1603119|COSM1603119 Thyroid|Liver|Large intestine|Central nervous system|Bone 0.001339|0.000844|0.002505|0.002495|0.001757 747|2371|2395|2405|569 transition G A G>A 1.000 5.613 V Val GTG 0.468 M Met ATG 1.000 763 13 9 Zebrafish 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 252.82 0.00 Deleterious 0.03 III.35 good 1.068E-2 0.006679 255 PASS . . . . . . . . . . . . . . . . 0.39112905 . . @ 97 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.867 . . 248.0 . . . . . . . . . . 0.4531 0.509 0.453 c . . . . . 1.579e-05 . . . . . . . . . . . 0 1.883e-05 0 0 0 3.68e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.809 . . exonic exonic exonic . . 0.786 @ . . . 0.4 0.32 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.839 0.158 . . 37 . 0.834 . . 0.854 . . . 0.622 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.615 . . 0.512 . . . . . . 0 0.564 . . . . . 0.938 . 0.850 . HET 0 rs76203768 . . . . . . . . . . . . 19.2243 . . V.42 V.42 . 0.000000 . . . . . . 0.473 . . V.42 0 1.219e-05 0 0 0 0 2.689e-05 0 0 . . . . . . . . . . 0.854 . 2.539 2.539000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.555 . 0.173 2.539 0.871 . . . rs76203768 rs76203768 1 1538 10 1/0 0,212,242 +rs78653489 10 126683152 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126683152 126683152 Chr10(GRCh37):g.126683152G>A 2286 2286 NM_022802.2:c.2286C>T p.Gly762= p.Gly762Gly 5 602619 101 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.28141 0 Cryptic Donor Strongly Activated 126683154 54.0176 2.34173 0.039164 66.5966 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs78653489 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246112 15304 33582 9850 17248 30782 111564 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 80 Exomes COSM3790575|COSM3790575|COSM3790575 Urinary tract|Liver|Large intestine 0.001488|0.000422|0.000835 672|2371|2395 transition C T C>T 1.000 1.981 G Gly GGC 0.342 G Gly GGT 0.162 762 215 PASS . . . . . . . . . . . . . . . . 0.199187 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . . . . . . . . . . 7.893e-06 . . . 0 1.102e-05 0 0 0 2.373e-05 0 0 0 9.416e-06 0 0 0 1.84e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.3 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78653489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.42 0 4.063e-06 0 0 0 0 8.963e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . rs78653489 rs78653489 1 1538 10 1/0 0,196,255 +rs75420260 10 126683162 C T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683162 126683162 Chr10(GRCh37):g.126683162C>T 2276 2276 NM_022802.2:c.2276G>A p.Arg759Gln p.Arg759Gln 5 602619 91 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.28141 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs75420260 no no 0 C 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246148 15304 33582 9850 17248 30782 111600 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 80 Exomes COSM3746205|COSM3746205|COSM3746205 Thyroid|Liver|Large intestine 0.001339|0.000422|0.002505 747|2371|2395 transition G A G>A 1.000 5.613 R Arg CGG 0.207 Q Gln CAG 0.744 759 13 9 Zebrafish 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 257.76 0.00 Tolerated 0.06 III.35 bad 4.911E-3 0.000132 255 PASS . . . . . . . . . . . . . . . . 0.38671875 . . @ 99 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.837 . @ . . . . . 1 0.972 . . 256.0 . . . . . . . . . . 0.3426 0.473 0.343 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.799 . . exonic exonic exonic . . 0.786 @ . . . 0.4 0.34 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.760 0.093 . . 37 . 0.737 . . 0.772 . . . 0.124 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.633 . . 0 0 0 0 0 0 . 0.566 . . 0.460 . . . . . . 0 0.453 . . . . . 0.938 . 0.893 . HET 0.01 rs75420260 . . . . . . . . . . . . 19.2243 . . V.42 V.42 . 0.070000 . . . . . . 0.566 . . V.42 0 4.063e-06 0 0 0 0 8.961e-06 0 0 . . . . . . . . . . 0.854 . 2.539 2.539000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.604 0.989 . 0.814 . 0.490 2.539 0.871 . . . rs75420260 rs75420260 1 1538 10 1/0 0,211,243 +rs78681531 10 126683190 C A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683190 126683190 Chr10(GRCh37):g.126683190C>A 2248 2248 NM_022802.2:c.2248G>T p.Asp750Tyr p.Asp750Tyr 5 602619 63 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 8.32461 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs78681531 no no 0 C 0.000000 0 COSM4144437|COSM4144437 Thyroid|Large intestine 0.001339|0.000418 747|2395 transversion G T G>T 1.000 5.613 D Asp GAC 0.539 Y Tyr TAC 0.562 750 13 12 Baker's yeast -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C15 213.16 137.89 Deleterious 0 III.35 bad 1.005E-4 9.06E-5 255 PASS . . . . . . . . . . . . . . . . 0.4063927 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.937 . @ . . . . . 1 0.700 . . 219.0 . . . . . . . . . . 1.0078 0.921 1.008 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.832 . . exonic exonic exonic . . 0.786 @ . . . 0.38 0.37 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.961 0.571 . . 37 . 0.942 . . 0.959 . . . 0.937 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.979 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.912 . . . . . 0.938 . 0.996 . HET 0 rs78681531 . . . . . . . . . . . . 19.2243 . . V.42 V.42 . 0.000000 . . . . . . 0.593 . . V.42 . . . . . . . . . . . . . . . . . . . 0.854 . 2.539 2.539000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.814 . 0.490 2.539 0.871 . . . rs78681531 rs78681531 1 1538 10 1/0 0,220,254 +rs74341800 10 126683197 T C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683197 126683197 Chr10(GRCh37):g.126683197T>C 2241 2241 NM_022802.2:c.2241A>G p.Ile747Met p.Ile747Met 5 602619 56 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.88181 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs74341800 no no 0 T 0.000000 0 COSM4144439 Thyroid 0.002677 747 transition A G A>G 0.992 -0.037 I Ile ATA 0.163 M Met ATG 1.000 747 13 10 C. elegans 2 1 2 0 0 5.II 5.VII 111 105 10 C0 234.77 8.IX Deleterious 0.02 III.35 bad 3.785E-3 0.0001014 255 PASS . . . . . . . . . . . . . . . . 0.33802816 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.604 . @ . . . . . 1 0.560 . . 213.0 . . . . . . . . . . -0.6054 -0.618 -0.605 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.819 . . exonic exonic exonic . . 0.051 @ . . . 0.33 0.31 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.559 . . . . D 0.712 0.071 . . 37 . 0.820 . . 0.753 . . . 0.390 0.443 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.495 . . 0 0 0 0 0 0 . 0.224 . . 0.442 . . . . . . 0 0.477 . . . . . 0.596 . 0.707 . HET 0.01 rs74341800 . . . . . . . . . . . . 13.3089 . . V.57 -2.99 . 0.020000 . . . . . . 0.211 . . . . . . . . . . . . . . . . . . . . . . 0.854 . -0.530 -0.530000 . . 0.020000 . . 1.0E-255 0.016 0.191 . 0.888 1.000 . 0.034 . 0.807 -0.530 0.991 . . . rs74341800 rs74341800 1 1538 10 1/0 0,215,255 +. 10 126683218 C T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126683218 126683218 Chr10(GRCh37):g.126683218C>T 2220 2220 NM_022802.2:c.2220G>A p.Lys740= p.Lys740Lys 5 602619 35 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.46624 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs958612432 no no 0 C 0.000000 0 COSM4144441|COSM4144441 Thyroid|Large intestine 0.001339|0.000418 747|2395 transition G A G>A 1.000 1.093 K Lys AAG 0.575 K Lys AAA 0.425 740 245 PASS . . . . . . . . . . . . . . . . 0.28773585 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 212.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +rs751118813 10 126683219 T G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683219 126683219 Chr10(GRCh37):g.126683219T>G 2219 2219 NM_022802.2:c.2219A>C p.Lys740Thr p.Lys740Thr 5 602619 34 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.65724 0 Cryptic Acceptor Strongly Activated 126683203 1.89516 0.000743 76.8549 5.12037 0.003177 76.8549 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs751118813 yes no Frequency 1 T 0.000000 0 COSM4144443|COSM4144443 Thyroid|Large intestine 0.002677|0.000418 747|2395 transversion A C A>C 1.000 4.644 K Lys AAG 0.575 T Thr ACG 0.116 740 13 11 Fruitfly -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 64.93 37.98 Deleterious 0.02 III.35 bad 5.667E-5 0.0001109 246 PASS . . . . . . . . . . . . . . . . 0.29353234 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.853 . @ . . . . . 1 0.895 . . 201.0 . . . . . . . . . . 0.7118 0.718 0.712 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.815 . . exonic exonic exonic . . 0.840 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.873 0.210 . . 37 . 0.865 . . 0.878 . . . 0.404 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.881 . . 0 0 0 0 0 0 . 0.689 . . 0.807 . . . . . . 0 0.721 . . . . . 0.775 . 0.814 . HET 0.01 . . . . . . . . . . . . . 15.7306 . . V.57 V.57 . 0.000000 . . . . . . 0.588 . . V.57 . . . . . . . . . . . . . . . . . . . 0.854 . 2.117 2.117000 . . 0.000000 . . 1.0E-246 1.000 0.715 . 0.888 1.000 . 0.830 . 0.807 2.117 0.991 . . . . . 1 1538 10 1/0 0,214,255 +rs879137309 10 126683225 C G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683225 126683225 Chr10(GRCh37):g.126683225C>G 2213 2213 NM_022802.2:c.2213G>C p.Arg738Pro p.Arg738Pro 5 602619 28 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 8.57628 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs879137309 no no 0 C 0.000000 0 COSM1603121|COSM1603121 Liver|Central nervous system 0.000422|0.002079 2371|2405 transversion G C G>C 1.000 5.694 R Arg CGA 0.110 P Pro CCA 0.274 738 13 12 C. elegans -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C15 101.88 79.54 Deleterious 0.03 III.35 bad 2.066E-6 6.652E-5 170 PASS . . . . . . . . . . . . . . . . 0.22488038 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.953 . @ . . . . . 1 0.911 . . 209.0 . . . . . . . . . . 0.8887 0.850 0.889 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.817 . . exonic exonic exonic . . 0.840 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.935 0.407 . . 37 . 0.930 . . 0.941 . . . 0.917 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.932 . . 0 0 0 0 0 0 . 0.577 . . 0.736 . . . . . . 0 0.518 . . . . . 0.953 . 0.996 . HET 0 . . . . . . . . . . . . . 19.5469 . . V.57 V.57 . 0.000000 . . . . . . 0.600 . . V.57 . . . . . . . . . . . . . . . . . . . 0.854 . 2.619 2.619000 . . 0.000000 . . 1.0E-170 1.000 0.715 . 0.888 1.000 . 0.814 . 0.173 2.619 0.871 . . . . . 1 1538 10 1/0 0,210,255 +rs76390727 10 126686574 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686574 126686574 Chr10(GRCh37):g.126686574G>A 2144 2144 NM_022802.2:c.2144C>T p.Ala715Val p.Ala715Val 4 602619 -42 5' 76.5756 8.10875 0.970055 XI.81 76.5756 8.10875 0.970055 XI.85 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs76390727 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000102 0.000116 0.000000 0.000009 0.000000 0.000000 0.000116 4 0 0 1 2 0 1 0 0 244290 15132 33540 9818 17190 30762 110452 21952 5444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 1 2 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes transition C T C>T 0.992 5.371 A Ala GCG 0.107 V Val GTG 0.468 715 13 10 Zebrafish 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 199.60 30.40 Deleterious 0.03 III.35 good 6.476E-2 0.003796 137 PASS . . . . . . . . . . . . . . . . 0.11188811 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.817 . @ . . . . . 1 0.869 . . 143.0 . . . . . . . . . . 0.3695 0.444 0.370 c . . . . . 1.580e-05 . . . . . . . . . . . 0 1.932e-05 0 0.0001 0 1.87e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.802 . . exonic exonic exonic . . 0.593 @ . . . 0.38 0.38 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.856 0.181 . . 37 . 0.758 . . 0.831 . . . 0.050 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.650 . . 0 0 0 0 0 0 . 0.715 . . 0.599 . . . . . . 0 0.349 . . . . . 0.893 . 0.821 . LowAF 0.06 rs76390727 . . . . . . . . . . . . 18.0719 . . IV.73 IV.73 . 0.010000 . . . . . . 0.639 . . IV.73 0 1.637e-05 0 0.0001 0.0001 0 9.054e-06 0 0 . . . . . . . . . . 0.997 . 2.329 2.329000 . . 0.010000 . . 1.0E-137 1.000 0.715 . 0.262 0.960 . 0.973 . 0.551 2.329 0.917 . . . rs76390727 rs76390727 1 1538 10 1/0 0,214,255 +. 10 126686659 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686659 126686659 Chr10(GRCh37):g.126686659G>A 2059 2059 NM_022802.2:c.2059C>T p.Arg687Trp p.Arg687Trp 4 602619 81 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.0968 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs945665113 no no 0 G 0.000000 0 COSM5620595|COSM5620595 Large intestine|Haematopoietic and lymphoid tissue 0.000418|0.000278 2395|3598 transition C T C>T 1.000 3.595 R Arg CGG 0.207 W Trp TGG 1.000 687 13 13 Baker's yeast -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C65 0.00 101.29 Deleterious 0 III.35 bad 7.18E-5 6.652E-5 196 PASS . . . . . . . . . . . . . . . . 0.14778325 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.957 . @ . . . . . 1 0.988 . . 203.0 . . . . . . . . . . 0.7630 0.669 0.763 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.862 . . exonic exonic exonic . . 0.593 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.920 0.341 . . 37 . 0.947 . . 0.961 . . . 0.954 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.955 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.599 . . . . . 0.893 . 0.997 . LowAF 0 . . . . . . . . . . . . . 18.0719 . . IV.73 IV.73 . 0.000000 . . . . . . 0.421 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 2.329 2.329000 . . 0.000000 . . 1.0E-196 1.000 0.715 . 0.587 1.000 . 0.481 . 0.169 2.329 0.917 . . . . . 1 1538 10 1/0 0,200,255 +rs77909283 10 126686665 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686665 126686665 Chr10(GRCh37):g.126686665G>T 2053 2053 NM_022802.2:c.2053C>A p.Leu685Met p.Leu685Met 4 602619 75 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.0895 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs77909283 no no 0 G 0.000000 0 transversion C A C>A 1.000 3.676 L Leu CTG 0.404 M Met ATG 1.000 685 13 13 Baker's yeast 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 0.00 14.30 Deleterious 0 III.35 bad 4.641E-3 5.033E-5 196 PASS . . . . . . . . . . . . . . . . 0.14925373 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.644 . @ . . . . . 1 0.681 . . 201.0 . . . . . . . . . . 0.6876 0.647 0.688 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.828 . . exonic exonic exonic . . 0.593 @ . . . 0.27 0.33 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.753 0.089 . . 37 . 0.893 . . 0.897 . . . 0.333 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.414 . . 0 0 0 0 0 0 . 0.764 . . 0.774 . . . . . . 0 0.430 . . . . . 0.893 . 0.860 . LowAF 0.03 rs77909283 . . . . . . . . . . . . 18.0719 . . IV.73 IV.73 . 0.080000 . . . . . . 0.507 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 2.329 2.329000 . . 0.080000 . . 1.0E-196 1.000 0.715 . 0.587 0.997 . 0.717 . 0.551 2.329 0.917 . . . rs77909283 rs77909283 1 1538 10 1/0 0,201,255 +. 10 126686666 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686666 126686666 Chr10(GRCh37):g.126686666G>A 2052 2052 NM_022802.2:c.2052C>T p.Asn684= p.Asn684Asn 4 602619 74 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.0352 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs904214855 no no 0 A 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 242660 14966 33354 9736 17088 30422 109932 21758 5404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes COSM5763751 Large intestine 0.000418 2395 transition C T C>T 1.000 0.609 N Asn AAC 0.536 N Asn AAT 0.464 684 196 PASS . . . . . . . . . . . . . . . . 0.14903846 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 208.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.242e-06 0 0 0 0 1.819e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,199,255 +rs76229685 10 126686672 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686672 126686672 Chr10(GRCh37):g.126686672G>A 2046 2046 NM_022802.2:c.2046C>T p.Ile682= p.Ile682Ile 4 602619 68 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 XII.44 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs76229685 yes no Frequency 1 G 0.000000 0 0.000017 0.000000 0.000000 0.000000 0.000059 0.000000 0.000027 0.000000 0.000000 0.000059 4 0 0 0 1 0 3 0 0 242062 14902 33280 9710 17068 30330 109694 21688 5390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition C T C>T 0.992 0.286 I Ile ATC 0.481 I Ile ATT 0.356 682 209 PASS . . . . . . . . . . . . . . . . 0.18137255 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . . . . . . . . . . . . . . . . . . 2.370e-05 . . . 0 1.326e-05 0 0.0002 0 0 0 0 0 3.371e-05 0 0.0002 0 4.24e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.28 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76229685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.652e-05 0 0 5.859e-05 0 2.735e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs76229685 rs76229685 1 1538 10 1/0 0,203,255 +rs796159102 10 126686680 A C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686680 126686680 Chr10(GRCh37):g.126686680A>C 2038 2038 NM_022802.2:c.2038T>G p.Cys680Gly p.Cys680Gly 4 602619 60 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.2115 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs796159102 no no 0 A 0.000000 0 COSM5763753 Large intestine 0.000835 2395 transversion T G T>G 1.000 4.402 C Cys TGC 0.552 G Gly GGC 0.342 680 13 11 Fruitfly -3 -3 -6 II.75 0.74 5.V 9 55 3 159 C0 159.42 0.00 Tolerated 0.34 III.35 good 2.484E-2 0.001371 205 PASS . . . . . . . . . . . . . . . . 0.17204301 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.364 . @ . . . . . 1 0.340 . . 186.0 . . . . . . . . . . -0.0332 0.178 -0.033 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.781 . . exonic exonic exonic . . 0.593 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.799 0.118 . . 37 . 0.550 . . 0.746 . . . 0.014 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.991 . . 0 0 0 0 0 0 . 0.427 . . 0.539 . . . . . . 0 0.282 . . . . . 0.673 . 0.925 . HET 0.14 . . . . . . . . . . . . . 14.522 . . IV.73 IV.73 . 0.140000 . . . . . . 0.589 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 1.888 1.888000 . . 0.140000 . . 1.0E-205 1.000 0.715 . 0.416 0.970 . 0.924 . 0.866 1.888 1.062 . . . . . 1 1538 10 1/0 0,206,255 +rs796931776 10 126686687 A G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686687 126686687 Chr10(GRCh37):g.126686687A>G 2031 2031 NM_022802.2:c.2031T>C p.Ser677= p.Ser677Ser 4 602619 53 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.3844 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs796931776 no no 0 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 241586 14848 33232 9692 17014 30296 109482 21662 5360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 55 Exomes COSM5763851 Large intestine 0.000418 2395 transition T C T>C 0.992 -0.037 S Ser TCT 0.185 S Ser TCC 0.220 677 255 PASS . . . . . . . . . . . . . . . . 0.34408602 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.139e-06 0 0 0 0 0 0 3.301e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs772014667 10 126686690 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686690 126686690 Chr10(GRCh37):g.126686690G>A 2028 2028 NM_022802.2:c.2028C>T p.Asp676= p.Asp676Asp 4 602619 50 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 XII.23 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs772014667 yes no Frequency 1 G 0.000000 0 transition C T C>T 1.000 0.528 D Asp GAC 0.539 D Asp GAT 0.461 676 202 PASS . . . . . . . . . . . . . . . . 0.1641791 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 201.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs796720401 10 126686692 C T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686692 126686692 Chr10(GRCh37):g.126686692C>T 2026 2026 NM_022802.2:c.2026G>A p.Asp676Asn p.Asp676Asn 4 602619 48 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.2307 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs796720401 no no 0 C 0.000000 0 transition G A G>A 1.000 5.371 D Asp GAC 0.539 N Asn AAC 0.536 676 13 12 C. elegans 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 44.60 XI.33 Deleterious 0.01 III.35 bad 1.055E-3 9.06E-5 199 PASS . . . . . . . . . . . . . . . . 0.15609756 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.865 . @ . . . . . 1 0.943 . . 205.0 . . . . . . . . . . 0.4709 0.425 0.471 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.860 . . exonic exonic exonic . . 0.593 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.912 0.310 . . 37 . 0.927 . . 0.943 . . . 0.755 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.808 . . 0 0 0 0 0 0 . 0.629 . . 0.627 . . . . . . 0 0.512 . . . . . 0.893 . 0.452 . HET 0 . . . . . . . . . . . . . 18.0719 . . IV.73 IV.73 . 0.000000 . . . . . . 0.524 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 2.329 2.329000 . . 0.000000 . . 1.0E-199 1.000 0.715 . 0.111 0.942 . 0.812 . 0.362 2.329 0.871 . . . . . 1 1538 10 1/0 0,200,255 +rs113916026 10 126686693 C G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686693 126686693 Chr10(GRCh37):g.126686693C>G 2025 2025 NM_022802.2:c.2025G>C p.Ala675= p.Ala675Ala 4 602619 47 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.2412 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs113916026 yes no Frequency 1 C 0.000000 0 COSM5763830|COSM5763830 Lung|Large intestine 0.000419|0.000835 2388|2395 transversion G C G>C 0.063 -1.893 A Ala GCG 0.107 A Ala GCC 0.403 675 255 PASS . . . . . . . . . . . . . . . . 0.3219512 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 205.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.28 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113916026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113916026 rs113916026 1 1538 10 1/0 0,217,255 +rs79189060 10 126686714 A G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686714 126686714 Chr10(GRCh37):g.126686714A>G 2004 2004 NM_022802.2:c.2004T>C p.Ser668= p.Ser668Ser 4 602619 26 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.298 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs79189060 yes no Frequency 1 A 0.000000 0 0.000013 0.000000 0.000000 0.000000 0.000180 0.000000 0.000000 0.000000 0.000000 0.000180 3 0 0 0 3 0 0 0 0 236684 14406 32500 9544 16682 29598 107412 21242 5300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 54 Exomes COSM5763755 Large intestine 0.000835 2395 transition T C T>C 0.000 -3.749 S Ser TCT 0.185 S Ser TCC 0.220 668 243 PASS . . . . . . . . . . . . . . . . 0.28108108 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 185.0 . . . . . . . . . . . . . . . . . . . 2.370e-05 . . . 0 4.609e-05 0 0.0006 0 0 0 0 0 3.928e-05 0 0.0005 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.28 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79189060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.268e-05 0 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs79189060 rs79189060 1 1538 10 1/0 0,218,255 +rs75044667 10 126686724 T C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686724 126686724 Chr10(GRCh37):g.126686724T>C 1994 1994 NM_022802.2:c.1994A>G p.Asn665Ser p.Asn665Ser 4 602619 16 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.972926 13.1281 -0.000918055 New Acceptor Site 126686723 3.08602 0.008379 75.7074 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs75044667 no no 0 T 0.000000 0 transition A G A>G 1.000 4.402 N Asn AAC 0.536 S Ser AGC 0.243 665 13 12 Baker's yeast 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 68.35 31.73 Deleterious 0.03 III.35 good 3.092E-2 0.001651 179 PASS . . . . . . . . . . . . . . . . 0.111801244 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.559 . @ . . . . . 1 0.729 . . 161.0 . . . . . . . . . . 0.3923 0.368 0.392 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.871 . . exonic exonic exonic . . 0.593 @ . . . 0.28 0.33 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.872 0.209 . . 37 . 0.917 . . 0.932 . . . 0.409 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.800 . . 0 0 0 0 0 0 . 0.470 . . 0.522 . . . . . . 0 0.574 . . . . . 0.673 . 0.535 . LowAF 0 rs75044667 . . . . . . . . . . . . 14.522 . . IV.73 IV.73 . 0.010000 . . . . . . 0.513 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 1.888 1.888000 . . 0.010000 . . 1.0E-179 1.000 0.715 . 0.562 1.000 . 0.828 . 0.580 1.888 0.991 . . . rs75044667 rs75044667 1 1538 10 1/0 0,207,255 +rs796847592 10 126686726 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution stop gain exon GRCh37 126686726 126686726 Chr10(GRCh37):g.126686726G>T 1992 1992 NM_022802.2:c.1992C>A p.Cys664* p.Cys664* 4 602619 14 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.97918 13.3294 0.00121872 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs796847592 no no 0 G 0.000000 0 transversion C A C>A 1.000 1.416 C Cys TGC 0.552 * * TGA 0.489 664 177 PASS . . . . . . . . . . . . . . . . 0.10714286 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.982 . @ . . . . . 0 0.666 . . 168.0 . . . . . . . . . . 0.6333 0.447 0.633 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.429 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.358 . . . LowAF 0 . . . . . . . . . . . . . 9.1239 . . IV.73 III.81 . 1.000000 . . . . . . 0.408 . . III.81 . . . . . . . . . . . . . . . . . . . 0.522 . 2.329 2.329000 . . 1.000000 . . 1.0E-177 1.000 0.715 . 0.587 0.998 . 0.498 . 0.551 2.329 0.917 . . . . . 1 1538 10 1/0 0,205,255 +rs764494778 10 126686732 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686732 126686732 Chr10(GRCh37):g.126686732G>A 1986 1986 NM_022802.2:c.1986C>T p.Ala662= p.Ala662Ala 4 602619 8 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.97052 XII.59 -0.0017401 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs764494778 yes no Frequency 1 A 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000035 0.000010 0.000000 0.000000 0.000035 2 0 0 0 0 1 1 0 0 226374 13596 31006 9326 16004 28482 102566 20308 5086 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 54 Exomes transition C T C>T 0.732 -0.682 A Ala GCC 0.403 A Ala GCT 0.263 662 217 PASS . . . . . . . . . . . . . . . . 0.20382166 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 157.0 . . . . . . . . . . . . . . . . . . . 7.907e-06 . . . 0 0 0 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs764494778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.835e-06 0 0 0 0 9.75e-06 0 3.511e-05 . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs3198936 10 126691631 T A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126691631 126691631 Chr10(GRCh37):g.126691631T>A 1876 1876 NM_022802.2:c.1876A>T p.Thr626Ser p.Thr626Ser 3 602619 43 3' 86.0965 X.37 0.851523 14.2378 86.0965 X.37 0.851523 14.095 0 Cryptic Acceptor Strongly Activated 126691620 4.71765 0.621306 78.6814 8.20854 0.862671 85.0681 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs3198936 no no 0 T 0.000000 0 COSM4144453|COSM4144453 Thyroid|Liver 0.001339|0.000844 747|2371 transversion A T A>T 1.000 2.223 T Thr ACC 0.361 S Ser TCC 0.220 626 13 10 Zebrafish 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 127.27 56.93 Tolerated 0.18 III.35 good 8.834E-1 0.4403 255 PASS . . . . . . . . . . . . . . . . 0.52071005 . . @ 88 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.220 . . 169.0 . . . . . . . . . . -0.3275 -0.175 -0.327 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.426 @ . . . 0.36 0.32 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.634 0.048 . . 37 . 0.787 . . 0.741 . . . 0.271 0.471 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.652 . . 0 0 0 0 0 0 . 0.200 . . 0.263 . . . . . . 0 0.416 . . . . . 0.479 . 0.642 . HET 0.03 rs3198936 . . . . . . . . . . . . XI.63 . . IV.94 III.79 . 0.020000 . . . . . . 0.480 . . III.79 . . . . . . . . . . . . . . . . . . . 0.854 . 0.824 0.824000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.634 . 0.567 0.824 0.991 . rs3198936 rs3198936 rs3198936 rs3198936 1 1538 10 1/0 0,238,252 +rs75794788 10 126691634 T A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126691634 126691634 Chr10(GRCh37):g.126691634T>A 1873 1873 NM_022802.2:c.1873A>T p.Ile625Phe p.Ile625Phe 3 602619 40 3' 86.0965 X.37 0.851523 14.2378 86.0965 X.37 0.851523 13.7524 0 Cryptic Acceptor Strongly Activated 126691620 4.71765 0.621306 78.6814 VI.75 0.803968 84.0819 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs75794788 no no 0 T 0.000000 0 COSM4144455 Thyroid 0.001339 747 transversion A T A>T 1.000 3.192 I Ile ATC 0.481 F Phe TTC 0.546 625 13 12 C. elegans 0 0 -1 0 0 5.II 5.II 111 132 21 C0 89.28 21.28 Deleterious 0.01 III.35 bad 4.649E-3 0.0001946 255 PASS . . . . . . . . . . . . . . . . 0.5329341 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.815 . @ . . . . . 1 0.443 . . 167.0 . . . . . . . . . . 0.3183 0.307 0.318 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.537 . . exonic exonic exonic . . 0.426 @ . . . 0.37 0.32 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.710 0.070 . . 37 . 0.616 . . 0.627 . . . 0.257 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.724 . . 0 0 0 0 0 0 . 0.554 . . 0.666 . . . . . . 0 0.654 . . . . . 0.479 . 0.849 . HET 0.01 rs75794788 . . . . . . . . . . . . XI.63 . . IV.94 III.79 . 0.000000 . . . . . . 0.630 . . III.79 . . . . . . . . . . . . . . . . . . . 0.854 . 0.824 0.824000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.874 . 0.567 0.824 0.991 . . . rs75794788 rs75794788 1 1538 10 1/0 0,240,253 +rs3198935 10 126691660 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126691660 126691660 Chr10(GRCh37):g.126691660G>A 1847 1847 NM_022802.2:c.1847C>T p.Ala616Val p.Ala616Val 3 602619 14 3' 86.0965 X.37 0.851523 14.2378 86.0965 X.37 0.874888 14.2659 0.00914636 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs3198935 no no 0 G 0.000000 0 transition C T C>T 1.000 5.694 A Ala GCC 0.403 V Val GTC 0.240 616 13 12 C. elegans 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 65.28 0.00 Tolerated 0.18 III.35 bad 4.661E-6 1.216E-5 255 PASS . . . . . . . . . . . . . . . . 0.489011 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.748 . @ . . . . . 1 0.958 . . 182.0 . . . . . . . . . . 0.4575 0.368 0.457 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.529 . . exonic exonic exonic . . 0.582 @ . . . 0.42 0.26 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.591 0.040 . . 37 . 0.601 . . 0.588 . . . 0.419 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.723 . . 0 0 0 0 0 0 . 0.689 . . 0.668 . . . . . . 0 0.654 . . . . . 0.889 . 0.923 . HET 0.01 rs3198935 . . . . . . . . . . . . 17.9557 . . IV.68 IV.68 . 0.180000 . . . . . . 0.862 . . IV.68 . . . . . . . . . . . . . . . . . . . 0.442 . 2.317 2.317000 . . 0.180000 . . 1.0E-255 1.000 0.715 . 0.220 0.639 . 0.997 . 0.536 2.317 0.917 . . . rs3198935 rs3198935 1 1538 10 1/0 0,234,255 +rs202167377 10 126691994 G C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126691994 126691994 Chr10(GRCh37):g.126691994G>C 1746 1746 NM_022802.2:c.1746C>G p.Arg582= p.Arg582Arg 2 602619 68 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.2908 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs202167377 yes no Frequency 1 G 0.000000 0 COSM5763527 Large intestine 0.000418 2395 transversion C G C>G 0.976 -0.117 R Arg CGC 0.190 R Arg CGG 0.207 582 208 PASS . . . . . . . . . . . . . . . . 0.2905983 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.25 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs797005903 10 126691997 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126691997 126691997 Chr10(GRCh37):g.126691997G>T 1743 1743 NM_022802.2:c.1743C>A p.Gly581= p.Gly581Gly 2 602619 65 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 17.0037 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs797005903 no no 0 G 0.000000 0 COSM5763496 Large intestine 0.000418 2395 transversion C A C>A 0.976 0.125 G Gly GGC 0.342 G Gly GGA 0.246 581 249 PASS . . . . . . . . . . . . . . . . 0.30357143 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs3198923 10 126692000 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126692000 126692000 Chr10(GRCh37):g.126692000G>A 1740 1740 NM_022802.2:c.1740C>T p.Asp580= p.Asp580Asp 2 602619 62 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.7021 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs3198923 yes no Frequency 1 G 0.000000 0 0.000045 0.000000 0.000040 0.000000 0.000119 0.000113 0.000035 0.000040 0.000000 0.000119 11 0 1 0 2 3 4 1 0 245706 22592 25206 8304 16764 26550 115706 24944 5640 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 2 3 4 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5763644 Large intestine 0.000418 2395 transition C T C>T 0.976 -0.198 D Asp GAC 0.539 D Asp GAT 0.461 580 247 PASS . . . . . . . . . . . . . . . . 0.29565218 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . . . . . . . . . . . . . . . . 5.564e-05 . . . 0 4.747e-05 0 0.0002 0 2.647e-05 0 0.0001 0 5.886e-05 0 0 0 7.695e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.25 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3198923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.655e-05 0 0 0.0001 4.661e-05 3.971e-05 0 0.0001 0 3.236e-05 0.0012 0 0 0 0 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs3198923 rs3198923 1 1538 10 1/0 0,239,255 +rs201964242 10 126692009 C A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126692009 126692009 Chr10(GRCh37):g.126692009C>A 1731 1731 NM_022802.2:c.1731G>T p.Ala577= p.Ala577Ala 2 602619 53 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.2367 0 rs201964242 yes no Frequency/1000G 2 C 0.000000 0 COSM5763529 Large intestine 0.000418 2395 transversion G T G>T 0.898 -0.440 A Ala GCG 0.107 A Ala GCT 0.263 577 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.36 0.29 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +rs3198920 10 126692017 G C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692017 126692017 Chr10(GRCh37):g.126692017G>C 1723 1723 NM_022802.2:c.1723C>G p.Leu575Val p.Leu575Val 2 602619 45 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 17.2105 0 rs3198920 no no 0 G 0.000000 0 transversion C G C>G 1.000 1.739 L Leu CTG 0.404 V Val GTG 0.468 575 13 11 C. elegans 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 245.67 XI.33 Deleterious 0.02 III.35 bad 3.067E-5 5.033E-5 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.514 . @ . . . . . 1 0.278 . . 102.0 . . . . . . . . . . 0.1972 0.091 0.197 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.546 . . exonic exonic exonic . . 0.242 @ . . . 0.33 0.29 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.477 . . . . D 0.634 0.048 . . 37 . 0.627 . . 0.599 . . . 0.311 0.537 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.595 . . 0 0 0 0 0 0 . 0.689 . . 0.708 . . . . . . 0 0.461 . . . . . 0.355 . 0.764 . LowAF 0.03 rs3198920 . . . . . . . . . . . . 9.074 . . IV.72 I.83 . 0.060000 . . . . . . 0.577 . . . . . . . . . . . . . . . . . . . . . . 0.817 . 0.176 0.176000 . . 0.060000 . . 1.0E-182 1.000 0.715 . 0.697 1.000 . 0.569 . 0.158 0.176 0.917 . . . rs3198920 rs3198920 1 1538 10 1/0 0,227,255 +rs796256730 10 126692019 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692019 126692019 Chr10(GRCh37):g.126692019G>A 1721 1721 NM_022802.2:c.1721C>T p.Pro574Leu p.Pro574Leu 2 602619 43 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 17.0048 0 rs796256730 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 216160 13750 25186 8092 15274 27458 100304 21444 4652 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Exomes COSM5620577 Haematopoietic and lymphoid tissue 0.000556 3598 transition C T C>T 1.000 4.160 P Pro CCC 0.328 L Leu CTC 0.197 574 13 12 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 208.63 94.04 Deleterious 0 III.35 bad 2.391E-5 0.0001268 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.700 . . 104.0 . . . . . . . . . . 0.3966 0.311 0.397 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.573 . . exonic exonic exonic . . 0.429 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.858 0.185 . . 37 . 0.680 . . 0.722 . . . 0.627 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.984 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.682 . . . . . 0.721 . 0.832 . LowAF 0 . . . . . . . . . . . . . 15.1285 . . IV.72 III.81 . 0.000000 . . . . . . 0.782 . . III.81 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.817 . 1.107 1.107000 . . 0.000000 . . 1.0E-181 1.000 0.715 . 0.888 1.000 . 0.997 . 0.551 1.107 0.917 . . . . . 1 1538 10 1/0 0,226,255 +. 10 126692022 CG C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 deletion frameshift exon GRCh37 126692023 126692023 Chr10(GRCh37):g.126692023del 1717 1717 NM_022802.2:c.1717del p.Arg573Alafs*19 p.Arg573Alafs*19 2 602619 39 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 15.2842 0 C 255 Pass . . . . . . . . . . . . . . . . 0.10185185 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,99 +rs796388243 10 126692029 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692029 126692029 Chr10(GRCh37):g.126692029G>T 1711 1711 NM_022802.2:c.1711C>A p.His571Asn p.His571Asn 2 602619 33 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.9136 0 rs796388243 no no 0 G 0.000000 0 transversion C A C>A 1.000 5.694 H His CAC 0.587 N Asn AAC 0.536 571 13 9 Zebrafish 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 231.11 17.80 Tolerated 0.16 III.35 good 9.082E-2 0.04342 175 PASS . . . . . . . . . . . . . . . . 0.10377359 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.680 . @ . . . . . 1 0.351 . . 106.0 . . . . . . . . . . 0.3163 0.376 0.316 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.837 . . exonic exonic exonic . . 0.591 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.481 . . . . D 0.701 0.067 . . 37 . 0.834 . . 0.854 . . . 0.597 0.548 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.783 . . 0 0 0 0 0 0 . 0.495 . . 0.527 . . . . . . 0 0.564 . . . . . 0.892 . 0.574 . LowAF 0 . . . . . . . . . . . . . 18.0503 . . IV.72 IV.72 . 0.030000 . . . . . . 0.821 . . IV.72 . . . . . . . . . . . . . . . . . . . 0.817 . 2.350 2.350000 . . 0.030000 . . 1.0E-175 1.000 0.715 . 0.888 1.000 . 0.838 . 0.551 2.350 0.917 . . . . . 1 1538 10 1/0 0,224,255 +. 10 126692035 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692035 126692035 Chr10(GRCh37):g.126692035G>T 1705 1705 NM_022802.2:c.1705C>A p.Pro569Thr p.Pro569Thr 2 602619 27 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 17.093 0 transversion C A C>A 1.000 3.757 P Pro CCC 0.328 T Thr ACC 0.361 569 13 12 Baker's yeast -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 208.63 30.46 Deleterious 0 III.35 bad 2.687E-4 0.0001268 177 PASS . . . . . . . . . . . . . . . . 0.106796116 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.713 . @ . . . . . 1 0.858 . . 103.0 . . . . . . . . . . 0.6278 0.644 0.628 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.864 . . exonic exonic exonic . . 0.591 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.504 . . . . D 0.853 0.176 . . 37 . 0.892 . . 0.908 . . . 0.627 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.898 . . 0 0 0 0 0 0 . 0.600 . . 0.548 . . . . . . 0 0.784 . . . . . 0.892 . 0.817 . LowAF 0 . . . . . . . . . . . . . 18.0503 . . IV.72 IV.72 . 0.000000 . . . . . . 0.780 . . IV.72 . . . . . . . . . . . . . . . . . . . 0.817 . 2.350 2.350000 . . 0.000000 . . 1.0E-177 1.000 0.715 . 0.888 1.000 . 0.985 . 0.551 2.350 0.917 . . . . . 1 1538 10 1/0 0,226,255 +rs368195398 10 126692037 C A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692037 126692037 Chr10(GRCh37):g.126692037C>A 1703 1703 NM_022802.2:c.1703G>T p.Gly568Val p.Gly568Val 2 602619 25 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.8808 0 rs368195398 yes no Frequency 1 C 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 207400 13504 23316 7584 14718 25942 96738 21150 4448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 46 Exomes 8340 4293 12633 0 1 1 0 0.000232883 7.91515e-05 0 0.000232883 7.91515e-05 17 transversion G T G>T 1.000 3.757 G Gly GGC 0.342 V Val GTC 0.240 568 13 10 C. elegans -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 224.61 50.17 Deleterious 0.02 III.35 bad 1.431E-5 7.356E-5 176 PASS . . . . . . . . . . . . . . . . 0.10576923 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.871 . @ . . . . . 1 0.722 . . 104.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . 0.5024 0.519 0.502 c . . . . . 7.973e-06 . . . 0 1.259e-05 0 0 0 2.779e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.871 . . exonic exonic exonic . . 0.591 @ . . . 0.32 0.31 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.871 0.206 . . 37 . 0.884 . . 0.892 . . . 0.627 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.938 . . 0 0 0 0 0 0 . 0.596 . . 0.514 . . . . . . 0 0.912 . . . . . 0.892 . 0.918 . LowAF 0 rs368195398 . . . . . . . . . . . . 18.0503 . . IV.72 IV.72 . 0.080000 . . . . 0.000079 . 0.623 . . IV.72 0 4.822e-06 0 0 0 0 1.034e-05 0 0 . . . . . . . . . . 0.817 . 2.350 2.350000 . . 0.080000 . . 1.0E-176 1.000 0.715 . 0.888 1.000 . 0.625 . 0.362 2.350 0.871 0.0002 . . rs368195398 . 1 1538 10 1/0 0,225,255 +rs797010536 10 126692039 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692039 126692039 Chr10(GRCh37):g.126692039G>T 1701 1701 NM_022802.2:c.1701C>A p.Asn567Lys p.Asn567Lys 2 602619 23 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.5902 0 rs797010536 no no 0 G 0.000000 0 transversion C A C>A 1.000 1.013 N Asn AAC 0.536 K Lys AAA 0.425 567 13 10 C. elegans 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C0 241.96 0.00 Tolerated 0.45 III.35 bad 3.433E-5 7.368E-5 178 PASS . . . . . . . . . . . . . . . . 0.10891089 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.653 . @ . . . . . 1 0.451 . . 101.0 . . . . . . . . . . -0.0464 0.008 -0.046 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.852 . . exonic exonic exonic . . 0.320 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.504 . . . . D 0.866 0.197 . . 37 . 0.815 . . 0.791 . . . 0.212 0.508 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.777 . . 0 0 0 0 0 0 . 0.504 . . 0.473 . . . . . . 0 0.531 . . . . . 0.173 . 0.574 . LowAF 0 . . . . . . . . . . . . . 5.756 . . IV.72 II.83 . 0.000000 . . . . . . 0.476 . . II.83 . . . . . . . . . . . . . . . . . . . 0.817 . 0.513 0.513000 . . 0.000000 . . 1.0E-178 1.000 0.715 . 0.888 1.000 . 0.363 . 0.551 0.513 0.917 . . . . . 1 1538 10 1/0 0,227,255 +rs149203505 10 127585074 G A - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution upstream GRCh37 127585074 127585074 Chr10(GRCh37):g.127585074G>A -138 -138 NM_001350939.1:c.-138G>A p.? p.? 1 611640 -151 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 New Acceptor Site 127585076 6.28948 0.5597 70.0602 rs149203505 no no 0 0.000000 0 transition G A G>A 0.882 1.577 174 PASS . . . . . . . . . . . . . . . . 0.10080645 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 496.0 . . UPSTREAM(MODIFIER||||FANK1|mRNA|CODING|NM_145235|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.57 0.53 182 . . FANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs149203505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs34407292 rs34407292 rs149203505 rs149203505 1 1538 10 1/0 0,157,255 +rs75232355 10 127585091 G A - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution upstream GRCh37 127585091 127585091 Chr10(GRCh37):g.127585091G>A -121 -121 NM_001350939.1:c.-121G>A p.? p.? 1 611640 -134 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 rs75232355 no no 0 0.000000 0 transition G A G>A 0.992 1.577 255 PASS . . . . . . . . . . . . . . . . 0.42028984 . . @ 203 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 483.0 . . UPSTREAM(MODIFIER||||FANK1|mRNA|CODING|NM_145235|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.58 0.54 182 . . FANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75232355 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . II.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 . . rs75232355 rs75232355 1 1538 10 1/0 0,187,218 +rs79612842 10 127585113 C T - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585113 127585113 Chr10(GRCh37):g.127585113C>T -99 -99 NM_001350939.1:c.-99C>T p.? p.? 1 611640 -112 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 rs79612842 no no 0 0.000000 0 transition C T C>T 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.385567 . . @ 187 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 485.0 . . START_GAINED(LOW||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.56 0.43 182 ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-99C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79612842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79612842 rs79612842 1 1538 10 1/0 0,183,217 +rs145676025 10 127585141 C G - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585141 127585141 Chr10(GRCh37):g.127585141C>G -71 -71 NM_001350939.1:c.-71C>G p.? p.? 1 611640 -84 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 Cryptic Donor Strongly Activated 127585136 0.001897 49.6727 0.6632 0.022883 62.3686 rs145676025 yes no Frequency 1 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30978 8730 838 302 1622 0 15016 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 131 Genomes transversion C G C>G 0.016 -1.812 174 PASS . . . . . . . . . . . . . . . . 0.100790516 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 506.0 . . UTR_5_PRIME(MODIFIER||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.55 0.5 182 ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-71C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs145676025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.228e-05 0 0 0 0 6.66e-05 0 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs34712261 rs34712261 rs145676025 rs145676025 1 1538 10 1/0 0,156,255 +rs796226578 10 127585142 G C - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585142 127585142 Chr10(GRCh37):g.127585142G>C -70 -70 NM_001350939.1:c.-70G>C p.? p.? 1 611640 -83 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 rs796226578 no no 0 0.000000 0 transversion G C G>C 0.646 1.739 187 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 504.0 . . UTR_5_PRIME(MODIFIER||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-70G>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,159,255 +rs142833172 10 127585195 C G - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585195 127585195 Chr10(GRCh37):g.127585195C>G -17 -17 NM_001350939.1:c.-17C>G p.? p.? 1 611640 -30 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.59817 0 rs142833172 no no 0 0.000000 0 transversion C G C>G 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.38658148 . . @ 121 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 313.0 . . UTR_5_PRIME(MODIFIER||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.59 0.6 182 ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-17C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142833172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs142833172 rs142833172 1 1538 10 1/0 0,204,249 +rs139618022 10 127585210 C T - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585210 127585210 Chr10(GRCh37):g.127585210C>T -2 -2 NM_001350939.1:c.-2C>T p.? p.? 1 611640 -15 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.48614 0 rs139618022 yes no Frequency 1 0.000000 0 transition C T C>T 0.732 -0.117 202 PASS . . . . . . . . . . . . . . . . 0.16356878 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 269.0 . . UTR_5_PRIME(MODIFIER||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.57 0.55 182 ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-2C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139618022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs139618022 rs139618022 1 1538 10 1/0 0,189,255 +rs5013589 10 127585237 C G - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution intron GRCh37 127585237 127585237 Chr10(GRCh37):g.127585237C>G 13+13 13+13 NM_001350939.1:c.13+13C>G p.? p.? 1 1 611640 13 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.91495 0 rs5013589 yes no Frequency 1 0.000000 0 transversion C G C>G 0.063 -0.037 218 PASS . . . . . . . . . . . . . . . . 0.43404254 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 235.0 . . INTRON(MODIFIER||||FANK1|mRNA|CODING|NM_145235|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.27 182 ENSG00000203780 FANK1 FANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs5013589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs5013589 rs5013589 1 1538 10 1/0 0,229,255 +rs78002531 10 127585268 G A - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution intron GRCh37 127585268 127585268 Chr10(GRCh37):g.127585268G>A 13+44 13+44 NM_001350939.1:c.13+44G>A p.? p.? 1 1 611640 44 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.58944 0 rs78002531 yes no Frequency 1 0.000000 0 0.000065 0.000094 0.000000 0.000000 0.000000 0.000868 0.000032 0.000000 0.000643 0.000868 4 1 0 0 0 1 1 0 1 61754 10602 1922 726 2704 1152 31740 11352 1556 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.602 184 PASS . . . . . . . . . . . . . . . . 0.12182741 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . INTRON(MODIFIER||||FANK1|mRNA|CODING|NM_145235|) . . . . . . . . . . . . . . . . 1.062e-04 . . . 0.0016 0.0003 0 0 0 0 0 0.0009 0.0015 0.0003 0 0 0 0 0 0.0009 . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.31 182 ENSG00000203780 FANK1 FANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs78002531 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0 0 0 0 5.979e-05 0.0017 0.0009 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . rs35668814 rs35668814 rs78002531 rs78002531 1 1538 10 1/0 0,199,255 +. 10 127705925 G GA - ADAM12 190 ADAM metallopeptidase domain 12 NM_003474.5 -1 8037 2730 NP_003465.3 O43184 duplication intron GRCh37 127705925 127705926 Chr10(GRCh37):g.127705926dup 2670-18 2670-18 NM_003474.5:c.2670-18dup p.? p.? 23 22 602714 -17 3' 86.9746 X.74 0.850505 9.29238 86.9746 X.74 0.850505 8.51177 0 rs541574979 yes no Frequency 1 0.000000 0 0.000799 0.001500 0.001000 0.000000 0.001000 0.000000 0.002964 0.000671 0.001011 0.005996 0.000985 0.000793 0.003842 0.005530 0.004821 0.005996 511 11 21 47 11 16 280 104 21 172392 16390 20770 7838 11168 20186 72876 18808 4356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 511 11 21 47 11 16 280 104 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8074 4184 12258 92 22 114 0.0112662 0.00523062 0.00921435 0.0112662 0.00523062 0.00921435 72 T 255 Pass . . . . . . . . . . . . . . . . 0.32692307 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 52 . . . . . . 0.0052 0.0091 0.011 . . . . . . . . . . . . . . 0 0.0028 0 0.0007 0.0146 0.0047 0.0043 0.0013 0 0.0023 0 0.0016 0.0146 0.0034 0.0067 0.0013 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000148848 ADAM12 ADAM12 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs541574979 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv324e1 . . . . . . 0.0011 0.0028 0.0011 0.0061 0.0012 0.0054 0.0034 0.0032 0.0008 0.0002 0.0039 0 0.0034 0 0.0060 0.0058 0.0110 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +rs139123090 10 128147738 G A - C10orf90 26563 Chromosome 10 open reading frame 90 NM_001350921.1 -1 3288 2391 NP_001337850.1 substitution missense exon GRCh37 128147738 128147738 Chr10(GRCh37):g.128147738G>A 2059 2059 NM_001350921.1:c.2059C>T p.Arg687Trp p.Arg687Trp 7 617735 49 3' 85.0021 8.15766 0.986955 5.1384 85.0021 8.15766 0.986955 4.43344 0 rs139123090 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.003338 0.000666 0.000784 0.000591 0.000053 0.000715 0.004350 0.011183 0.002165 0.011183 925 16 27 6 1 22 551 288 14 277148 24032 34420 10150 18870 30782 126674 25754 6466 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 923 16 27 6 1 22 549 288 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4403 12970 33 3 36 0.00383721 0.00068089 0.00276795 0.00383721 0.00068089 0.00276795 157 COSM3768987|COSM3768987 Pancreas|Large intestine 0.001138|0.000448 1758|2231 transition C T C>T 0.976 0.932 R Arg CGG 0.207 W Trp TGG 1.000 687 12 11 Chicken -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 241.31 94.79 Deleterious 0 III.86 255 PASS . 0.0018 . . 0.01 . 0.001 0.0014 . 0.004 . . . C10orf90:NM_001004298:exon6:c.C1768T:p.R590W . . 0.50476193 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.950 . @ . . . . . 1 0.988 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R590W|C10orf90|mRNA|CODING|NM_001004298|NM_001004298.ex.6) 0.0007 0.0028 0.0038 0.0007 0.0028 0.0038 . 0.5182 0.457 0.518 c . . . . . 3.362e-03 . . . 0.0007 0.0023 0.0008 0.0002 0.0105 0.0032 0.0028 0.0008 0.0008 0.0034 0.0008 0.0001 0.0106 0.0047 0.0043 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.679 . . exonic exonic exonic . . 0.469 0.0010 . . . 0.23 0.53 182 ENSG00000154493 C10orf90 C10orf90 . . . 1.000 0.747 . 206 0.0031704 64976 201 0.00335078 59986 Uncertain_significance . 0 . 0.399 . . . . . . . . . 37 . 0.707 . . 0.759 . . . 0.851 0.389 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.954 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.426 . 0.920 . HET 0 rs139123090 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 X.33 5.35E-4 . 5.I 4.IX . 0.000000 . . . Name\x3desv2677894 0.002768 . 0.285 . . 4.IX 0.0006 0.0033 0.0008 0.0006 5.798e-05 0.0108 0.0045 0.0022 0.0007 0.0008 0.0036 0.0012 0 0 0.0137 0.0035 0.0020 . . 0.133 . 1.289 1.289000 . . 0.000000 . . 1.0E-255 0.996 0.391 . 0.461 0.993 . 0.456 . 0.713 1.289 0.917 0.01 . . rs139123090 rs139123090 1 1538 10 1/0 0,255,255 +rs138888836 10 129905906 C A - MKI67 7107 Antigen identified by monoclonal antibody Ki-67 NM_002417.4 -1 12497 9771 NP_002408.3 P46013 substitution missense exon GRCh37 129905906 129905906 Chr10(GRCh37):g.129905906C>A 4198 4198 NM_002417.4:c.4198G>T p.Val1400Leu p.Val1400Leu 13 176741 1782 3' 99.4088 9.78298 0.954012 8.01767 99.4088 9.78298 0.954012 8.01767 0 K167R rs138888836 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000800 0.000000 0.000000 0.004000 0.004300 0.002825 0.000707 0.002237 0.000000 0.000000 0.000032 0.004856 0.002094 0.002939 0.004856 783 17 77 0 0 1 615 54 19 277150 24030 34416 10152 18870 30782 126646 25790 6464 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 776 16 77 0 0 1 611 52 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8562 4404 12966 38 2 40 0.0044186 0.000453926 0.0030755 0.0044186 0.000453926 0.0030755 263 transversion G T G>T 0.000 -0.360 V Val GTA 0.114 L Leu TTA 0.073 1400 6 4 Cow 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 30.92 0.00 Tolerated 0.43 III.64 good 2.642E-1 0.00114 255 PASS . 0.0027 0.01 . 0.0026 0.0008 0.0016 0.0043 . 0.004 . . . . . . 0.47674417 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.160 . @ . . . . . 1 0.073 . . 172.0 . . . 0.0005 0.0031 0.0044 0.0005 0.0031 0.0044 . -1.0937 -1.247 -1.094 c . . . . . 2.589e-03 . . . 0.0004 0.0025 0.0021 0 0.0013 0.0046 0.0056 0 0.0004 0.0024 0.0020 0 0.0020 0.0040 0.0058 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.042 . . exonic exonic exonic . . 0.111 0.0016 . . . 0.33 0.21 182 ENSG00000148773 MKI67 MKI67 . . . 0.642 0.221 . 294 0.00452475 64976 287 0.00478445 59986 Uncertain_significance . 0 . . . . . . T 0.076 0.003 . . 37 . 0.047 . . 0.368 . . . 0.288 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.216 . . 0 0 0 0 0 0 . 0.537 . . 0.543 . . . . . . 0 0.148 . . . . . 0.103 . 0.124 . HET 0.1 rs138888836 . . . . . . . 0.0027472527472527475 0.0 0.011049723756906077 0.0 0.002638522427440633 4.301 2.68E-4 . III.63 -0.57 . 0.410000 . . . . 0.003076 . 0.143 . . . 0.0004 0.0026 0.0022 0 0 0.0022 0.0045 0.0033 3.249e-05 0.0013 0.0042 0.0036 0 0 0.0011 0.0075 0.0010 . . 0.730 . 0.018 0.018000 . . 0.410000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.003 . 0.055 0.018 -0.523 0.01 . . rs138888836 rs138888836 1 1538 10 1/0 0,237,255 +. 10 134726111 TCTCTCT T - CFAP46 25247 Cilia and flagella associated protein 46 NM_001200049.2 -1 8278 8148 NP_001186978.2 Q8IYW2 delins intron GRCh37 134726111 134726117 Chr10(GRCh37):g.134726111_134726117delinsT 2499+42 2499+48 NM_001200049.2:c.2499+42_2499+48delinsA p.? p.? 19 19 42 5' 68.1351 6.42714 0.390068 7.47761 68.1351 6.42714 0.390068 7.30203 0 A GAGAGAG 255 Pass . . . . . . . . . . . . . . . . 0.4520548 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 73 . . INTRON(MODIFIER||||CFAP46|mRNA|CODING|NM_001200049|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000171811 TTC40 CFAP46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +. 10 135105973 CCGTGT C - TUBGCP2 18599 Tubulin, gamma complex associated protein 2 NM_001256617.1 -1 4302 2793 NP_001243546.1 delins intron GRCh37 135105973 135105978 Chr10(GRCh37):g.135105973_135105978delinsC 1298+25 1298+30 NM_001256617.1:c.1298+25_1298+30delinsG p.? p.? 9 9 617817 25 5' 84.9006 9.46092 0.962897 8.38512 84.9006 9.46092 0.962897 9.02045 0 G CACGGA 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000130640 TUBGCP2 TUBGCP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,48 +. 10 135169081 G A - FUOM 24733 Fucose mutarotase NM_001098483.2 -1 699 465 NP_001091953.1 A2VDF0 substitution intron GRCh37 135169081 135169081 Chr10(GRCh37):g.135169081G>A 399-141 399-141 NM_001098483.2:c.399-141C>T p.? p.? 6 5 617725 -141 3' 87.7378 6.61372 0.980231 5.00007 87.7378 6.61372 0.980231 5.00007 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30926 8720 836 302 1622 0 14972 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148803 FUOM FUOM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.234e-05 0 0 0 0 6.679e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796149674 10 135472959 G T - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution exon GRCh37 135472959 135472959 Chr10(GRCh37):g.135472959G>T 324 324 ENST00000438421.1:n.324C>A 4 3 3' 0 6.36541 0.983425 6.23991 0 5.99189 0.980352 5.81396 -0.0309025 rs796149674 no no 0 0.000000 0 transversion C A C>A 0.992 0.286 255 PASS . . . . . . . . . . . . . . . . 0.53504676 . . @ 229 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 428.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32660\x3bdist\x3d7599 dist\x3d32660\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,208 +rs796735936 10 135472960 C G - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution exon GRCh37 135472960 135472960 Chr10(GRCh37):g.135472960C>G 323 323 ENST00000438421.1:n.323G>C 4 2 3' 0 6.36541 0.983425 6.23991 0 6.85792 0.988216 7.08601 0.0411226 rs796735936 no no 0 0.000000 0 transversion G C G>C 1.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.54004574 . . @ 236 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 437.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.62 0.25 182 ENSG00000230468 . . . dist\x3d32661\x3bdist\x3d7598 dist\x3d32661\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,206 +rs183898919 10 135472967 A G - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135472967 135472967 Chr10(GRCh37):g.135472967A>G 322-6 322-6 ENST00000438421.1:n.322-6T>C p.? p.? 4 3 -6 3' 0 6.36541 0.983425 6.23991 0 5.79573 0.98074 5.52788 -0.0461135 rs183898919 no no 0 0.000000 0 transition T C T>C 0.961 0.690 255 PASS . . . . . . . . . . . . . . . . 0.5486111 . . @ 237 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 432.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.4 0.21 182 ENSG00000230468 . . . dist\x3d32668\x3bdist\x3d7591 dist\x3d32668\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs183898919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs183898919 rs183898919 1 1538 10 1/0 0,198,208 +. 10 135472982 GACTAGGCAAGGG G - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 deletion intron GRCh37 135472979 135472990 Chr10(GRCh37):g.135472979_135472990del 322-29 322-18 ENST00000438421.1:n.322-29_322-18del p.? p.? 4 3 -18 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 3.68165 0 TGCCTAGTCCCT 255 Pass . . . . . . . . . . . . . . . . 0.34311512 . . . 152 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 443 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . . . . . . . . ENSG00000230468 . . . dist\x3d32684\x3bdist\x3d7564 dist\x3d32684\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 10 135472983 A AGAAAAT - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 insertion intron GRCh37 135472983 135472984 Chr10(GRCh37):g.135472983_135472984insGAAAAT 322-23 322-22 ENST00000438421.1:n.322-23_322-22insATTTTC p.? p.? 4 3 -22 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 7.09182 0 Cryptic Acceptor Strongly Activated 135472972 4.37667 0.738434 7.77832 0.966199 75.6219 ATTTTC 255 Pass . . . . . . . . . . . . . . . . 0.14955357 . . . 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 448 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . . . . . . . . ENSG00000230468 . . . dist\x3d32684\x3bdist\x3d7575 dist\x3d32684\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,83 +. 10 135472988 G A - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135472988 135472988 Chr10(GRCh37):g.135472988G>A 322-27 322-27 ENST00000438421.1:n.322-27C>T p.? p.? 4 3 -27 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.24556 0 transition C T C>T 0.362 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.34013605 . . @ 150 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 441.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32689\x3bdist\x3d7570 dist\x3d32689\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,200,230 +. 10 135473007 CCCA C - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 deletion intron GRCh37 135473008 135473010 Chr10(GRCh37):g.135473008_135473010del 322-49 322-47 ENST00000438421.1:n.322-49_322-47del p.? p.? 4 3 -47 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 5.21883 0 Cryptic Donor Strongly Activated 135473015 0.013353 62.6322 5.26343 0.228266 75.025 rs758357501 no no 0 0.000000 0 0.005945 0.006103 0.011945 0.000000 0.019784 0.000000 0.003747 0.010449 0.002667 0.019784 147 42 7 0 22 0 47 27 2 24726 6882 586 268 1112 0 12544 2584 750 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 147 42 7 0 22 0 47 27 2 0 0 0 0 0 0 0 0 0 RF 54 Genomes TGG 255 Pass . . . . . . . . . . . . . . . . 0.1292517 . . . 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 441 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . . . . . . . . ENSG00000230468 . . . dist\x3d32709\x3bdist\x3d7548 dist\x3d32709\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs758357501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0061 0.0059 0.0119 0 0.0198 0.0104 0.0037 0.0027 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370923129 . 1 1538 10 1.I 0,5,89 +rs796466759 10 135473020 C T - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473020 135473020 Chr10(GRCh37):g.135473020C>T 322-59 322-59 ENST00000438421.1:n.322-59G>A p.? p.? 4 3 -59 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.20711 0 rs796466759 no no 0 0.000000 0 transition G A G>A 0.071 0.367 251 PASS . . . . . . . . . . . . . . . . 0.30715936 . . @ 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 433.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32721\x3bdist\x3d7538 dist\x3d32721\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,244 +rs796571847 10 135473026 T C - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473026 135473026 Chr10(GRCh37):g.135473026T>C 322-65 322-65 ENST00000438421.1:n.322-65A>G p.? p.? 4 3 -65 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.36397 0 rs796571847 no no 0 0.000000 0 transition A G A>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.32853717 . . @ 137 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 417.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32727\x3bdist\x3d7532 dist\x3d32727\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,244 +rs370541096 10 135473048 T C - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473048 135473048 Chr10(GRCh37):g.135473048T>C 322-87 322-87 ENST00000438421.1:n.322-87A>G p.? p.? 4 3 -87 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.23991 0 New Donor Site 135473049 3.89415 0.169623 64.2655 rs370541096 no no 0 0.000000 0 0.000410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000699 0.000300 0.001080 0.000699 12 0 0 0 0 0 10 1 1 29252 8160 806 298 1408 0 14316 3338 926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 0 0 0 10 1 1 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition A G A>G 0.291 0.367 255 PASS . . . . . . . . . . . . . . . . 0.43026707 . . @ 145 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 337.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.39 0.33 182 ENSG00000230468 . . . dist\x3d32749\x3bdist\x3d7510 dist\x3d32749\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs370541096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0.0003 0.0007 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112747904 rs112747904 1 1538 10 1/0 0,207,254 +rs374532556 10 135473049 G A - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473049 135473049 Chr10(GRCh37):g.135473049G>A 322-88 322-88 ENST00000438421.1:n.322-88C>T p.? p.? 4 3 -88 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.23991 0 rs374532556 no no 0 0.000000 0 transition C T C>T 0.323 0.367 248 PASS . . . . . . . . . . . . . . . . 0.2969697 . . @ 98 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 330.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32750\x3bdist\x3d7509 dist\x3d32750\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs374532556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . rs374532556 . 1 1538 10 1/0 0,194,255 +. 10 135473056 C A - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473056 135473056 Chr10(GRCh37):g.135473056C>A 322-95 322-95 ENST00000438421.1:n.322-95G>T p.? p.? 4 3 -95 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.23991 0 transversion G T G>T 0.260 1.335 176 PASS . . . . . . . . . . . . . . . . 0.105610564 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 303.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.37 0.26 182 ENSG00000230468 . . . dist\x3d32757\x3bdist\x3d7502 dist\x3d32757\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs112556087 rs112556087 1 1538 10 1/0 0,179,255 +rs182056352 10 135473082 C A - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473082 135473082 Chr10(GRCh37):g.135473082C>A 322-121 322-121 ENST00000438421.1:n.322-121G>T p.? p.? 4 3 -121 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.23991 0 rs182056352 no no 0 0.000000 0 transversion G T G>T 0.630 0.367 234 PASS . . . . . . . . . . . . . . . . 0.25373134 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 201.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.4 0.25 182 ENSG00000230468 . . . dist\x3d32783\x3bdist\x3d7476 dist\x3d32783\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs182056352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . rs182056352 rs182056352 1 1538 10 1/0 0,212,255 +. (chr10:135477976 C/G) 10 135477976 C G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +rs76669738 (chr10:135477988 C/T) 10 135477988 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135477992 C/T) 10 135477992 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +rs79316253 (chr10:135477994 C/T) 10 135477994 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135477998 G/C) 10 135477998 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478004 C/T) 10 135478004 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478013 C/G) 10 135478013 C G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478015 C/T) 10 135478015 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478016 G/A) 10 135478016 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478045 C/T) 10 135478045 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478046 G/A) 10 135478046 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +rs112864343 (chr10:135478049 G/A) 10 135478049 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478050 C/T) 10 135478050 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478052 C/T) 10 135478052 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478061 C/T) 10 135478061 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478062 G/C) 10 135478062 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478063 C/T) 10 135478063 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478067 C/T) 10 135478067 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478076 G/A) 10 135478076 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478084 C/T) 10 135478084 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478085 G/A) 10 135478085 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478088 C/A) 10 135478088 C A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478117 G/A) 10 135478117 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478121 G/T) 10 135478121 G T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478132 C/T) 10 135478132 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478133 G/A) 10 135478133 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478429 C/G) 10 135478429 C G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478432 G/C) 10 135478432 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478447 G/C) 10 135478447 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478475 G/A) 10 135478475 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478481 G/A) 10 135478481 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478499 G/A) 10 135478499 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478506 C/T) 10 135478506 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478543 C/T) 10 135478543 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478553 C/T) 10 135478553 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478559 G/A) 10 135478559 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478707 C/T) 10 135478707 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478709 G/C) 10 135478709 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478759 C/T) 10 135478759 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478787 C/T) 10 135478787 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478788 G/A) 10 135478788 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478794 C/T) 10 135478794 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478818 G/A) 10 135478818 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478828 G/T) 10 135478828 G T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478833 G/A) 10 135478833 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478850 G/T) 10 135478850 G T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478856 C/T) 10 135478856 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479548 G/A) 10 135479548 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479554 G/T) 10 135479554 G T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479565 G/A) 10 135479565 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479580 C/A) 10 135479580 C A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479582 G/A) 10 135479582 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479625 C/A) 10 135479625 C A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479626 G/A) 10 135479626 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479627 C/T) 10 135479627 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480649 A/C) 10 135480649 A C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480679 A/G) 10 135480679 A G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480708 A/G) 10 135480708 A G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480712 C/T) 10 135480712 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480718 C/A) 10 135480718 C A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480737 C/T) 10 135480737 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480772 C/T) 10 135480772 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480780 G/A) 10 135480780 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480792 C/T) 10 135480792 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480793 G/A) 10 135480793 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480822 C/T) 10 135480822 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480831 G/A) 10 135480831 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480872 G/A) 10 135480872 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480890 G/A) 10 135480890 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480929 C/A) 10 135480929 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +rs201126909 (chr10:135480937 C/A) 10 135480937 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481112 G/C) 10 135481112 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481126 G/A) 10 135481126 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481137 C/T) 10 135481137 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481165 G/T) 10 135481165 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481194 C/T) 10 135481194 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481206 C/T) 10 135481206 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481209 G/A) 10 135481209 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481217 C/T) 10 135481217 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481228 G/A) 10 135481228 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481247 C/T) 10 135481247 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481276 G/A) 10 135481276 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481286 C/G) 10 135481286 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481289 C/T) 10 135481289 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481298 C/T) 10 135481298 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481302 C/T) 10 135481302 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481304 C/T) 10 135481304 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481308 G/C) 10 135481308 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481325 C/T) 10 135481325 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481356 G/A) 10 135481356 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481359 G/A) 10 135481359 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481362 C/T) 10 135481362 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481371 C/T) 10 135481371 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481378 G/A) 10 135481378 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481380 C/T) 10 135481380 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481381 G/A) 10 135481381 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481386 G/A) 10 135481386 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481398 C/A) 10 135481398 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481404 G/A) 10 135481404 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481426 C/T) 10 135481426 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481427 G/A) 10 135481427 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481436 C/T) 10 135481436 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481442 C/T) 10 135481442 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481739 C/G) 10 135481739 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481742 G/C) 10 135481742 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481757 G/C) 10 135481757 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481759 G/A) 10 135481759 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481777 C/A) 10 135481777 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481791 G/A) 10 135481791 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481809 G/A) 10 135481809 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481816 C/T) 10 135481816 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481853 C/T) 10 135481853 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481863 C/T) 10 135481863 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481869 G/A) 10 135481869 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482069 C/T) 10 135482069 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482086 A/G) 10 135482086 A G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482098 G/A) 10 135482098 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482128 G/A) 10 135482128 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482138 G/T) 10 135482138 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482166 C/T) 10 135482166 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482864 G/T) 10 135482864 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482875 G/A) 10 135482875 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482890 C/A) 10 135482890 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482892 G/A) 10 135482892 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482936 G/A) 10 135482936 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482937 C/T) 10 135482937 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482971 T/C) 10 135482971 T C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135483959 A/C) 10 135483959 A C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135483989 A/G) 10 135483989 A G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484011 G/A) 10 135484011 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484018 A/G) 10 135484018 A G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484022 C/T) 10 135484022 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484028 C/A) 10 135484028 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484047 C/T) 10 135484047 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484082 C/T) 10 135484082 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484083 G/A) 10 135484083 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484090 G/A) 10 135484090 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484102 C/T) 10 135484102 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484103 G/A) 10 135484103 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484115 C/T) 10 135484115 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484132 C/T) 10 135484132 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484140 C/T) 10 135484140 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484141 G/A) 10 135484141 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484181 C/T) 10 135484181 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484200 G/A) 10 135484200 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484203 G/A) 10 135484203 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484239 C/A) 10 135484239 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +rs201140691 (chr10:135484339 G/A) 10 135484339 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484416 G/T) 10 135484416 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484422 G/C) 10 135484422 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484426 C/A) 10 135484426 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484447 C/T) 10 135484447 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484452 T/C) 10 135484452 T C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484453 G/A) 10 135484453 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484475 G/T) 10 135484475 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484531 G/T) 10 135484531 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484557 C/T) 10 135484557 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484558 G/A) 10 135484558 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484596 C/G) 10 135484596 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484608 C/T) 10 135484608 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484612 C/T) 10 135484612 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484614 C/T) 10 135484614 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484618 G/C) 10 135484618 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484635 C/T) 10 135484635 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484638 C/T) 10 135484638 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484665 C/T) 10 135484665 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484666 G/A) 10 135484666 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484669 G/A) 10 135484669 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484670 C/T) 10 135484670 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484672 C/T) 10 135484672 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484681 C/T) 10 135484681 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484687 C/T) 10 135484687 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484690 C/T) 10 135484690 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484691 G/A) 10 135484691 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484696 G/A) 10 135484696 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484708 C/A) 10 135484708 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484713 C/T) 10 135484713 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484751 C/A) 10 135484751 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484752 C/T) 10 135484752 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484753 G/A) 10 135484753 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485049 C/G) 10 135485049 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485052 G/C) 10 135485052 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485067 G/C) 10 135485067 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485094 C/T) 10 135485094 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485101 G/A) 10 135485101 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485118 C/T) 10 135485118 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485124 C/A) 10 135485124 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485126 C/T) 10 135485126 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485163 C/T) 10 135485163 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485164 G/C) 10 135485164 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485176 C/A) 10 135485176 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485179 G/A) 10 135485179 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485197 C/G) 10 135485197 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485379 C/T) 10 135485379 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485387 C/T) 10 135485387 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485396 A/G) 10 135485396 A G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485403 A/C) 10 135485403 A C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485408 G/A) 10 135485408 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485438 G/A) 10 135485438 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485445 C/A) 10 135485445 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485453 G/A) 10 135485453 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485470 G/T) 10 135485470 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485476 C/T) 10 135485476 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485477 G/A) 10 135485477 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486167 G/A) 10 135486167 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486173 G/T) 10 135486173 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486184 G/A) 10 135486184 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486199 C/A) 10 135486199 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486201 G/A) 10 135486201 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486245 G/A) 10 135486245 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486246 C/T) 10 135486246 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135487268 A/C) 10 135487268 A C No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487298 A/G) 10 135487298 A G No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487309 C/T) 10 135487309 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487320 G/A) 10 135487320 G A No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487327 A/G) 10 135487327 A G No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487331 C/T) 10 135487331 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487356 C/T) 10 135487356 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +rs375552909 (chr10:135487391 C/T) 10 135487391 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +rs369508442 (chr10:135487424 C/T) 10 135487424 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487441 C/T) 10 135487441 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487450 G/A) 10 135487450 G A No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487469 T/C) 10 135487469 T C No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487491 G/A) 10 135487491 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs796112917 (chr10:135487509 G/A) 10 135487509 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs375663717 (chr10:135487808 G/A) 10 135487808 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487813 C/T) 10 135487813 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487822 C/T) 10 135487822 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487836 C/T) 10 135487836 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs797010396 (chr10:135487847 G/A) 10 135487847 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487864 C/T) 10 135487864 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487867 G/A) 10 135487867 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487872 G/T) 10 135487872 G T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs372458688 (chr10:135487905 C/G) 10 135487905 C G No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487916 G/A) 10 135487916 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs796797441 (chr10:135487917 C/T) 10 135487917 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487923 C/T) 10 135487923 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487927 G/C) 10 135487927 G C No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487944 C/T) 10 135487944 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487978 G/A) 10 135487978 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487979 C/T) 10 135487979 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487981 C/T) 10 135487981 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487990 C/T) 10 135487990 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488000 G/A) 10 135488000 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488013 C/T) 10 135488013 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488017 C/A) 10 135488017 C A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488018 G/T) 10 135488018 G T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488045 C/T) 10 135488045 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488055 C/T) 10 135488055 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488061 C/T) 10 135488061 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488358 C/G) 10 135488358 C G No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488361 G/C) 10 135488361 G C No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488376 G/C) 10 135488376 G C No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488378 G/A) 10 135488378 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488409 C/T) 10 135488409 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488410 G/A) 10 135488410 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488435 C/T) 10 135488435 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488454 C/T) 10 135488454 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs112663446 (chr10:135488472 C/T) 10 135488472 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488482 C/T) 10 135488482 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488488 G/A) 10 135488488 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488489 C/A) 10 135488489 C A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488519 C/T) 10 135488519 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488688 C/T) 10 135488688 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488716 C/T) 10 135488716 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488717 G/A) 10 135488717 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488778 G/T) 10 135488778 G T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488786 G/A) 10 135488786 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489477 G/A) 10 135489477 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489483 G/T) 10 135489483 G T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489494 G/A) 10 135489494 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489500 G/A) 10 135489500 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489509 C/A) 10 135489509 C A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489511 G/A) 10 135489511 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489555 G/A) 10 135489555 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489556 C/T) 10 135489556 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489590 T/C) 10 135489590 T C No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135490624 C/T) 10 135490624 C T No Alamut gene - other known genes: DUX4L13, DUX4L14 DUX4L13 +rs368219871 (chr10:135490655 C/T) 10 135490655 C T No Alamut gene - other known genes: DUX4L13, DUX4L14 DUX4L13 +rs376559432 (chr10:135490665 C/T) 10 135490665 C T No Alamut gene - other known genes: DUX4L13, DUX4L14 DUX4L13 +rs756255131 (chr10:135491045 C/T) 10 135491045 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs779906704 (chr10:135491107 G/A) 10 135491107 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs372607348 (chr10:135491163 C/T) 10 135491163 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs770961925 (chr10:135491243 C/T) 10 135491243 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs767689959 (chr10:135491273 C/T) 10 135491273 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs796500163 (chr10:135491299 G/A) 10 135491299 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs796602017 (chr10:135491312 C/T) 10 135491312 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs762702201 (chr10:135491313 G/A) 10 135491313 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491321 C/T) 10 135491321 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491344 C/T) 10 135491344 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491345 G/A) 10 135491345 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs766382157 (chr10:135491354 C/T) 10 135491354 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491709 G/A) 10 135491709 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs745884001 (chr10:135491726 C/T) 10 135491726 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs772209462 (chr10:135491734 C/T) 10 135491734 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491749 G/T) 10 135491749 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs775558768 (chr10:135491771 C/T) 10 135491771 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491781 C/T) 10 135491781 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491787 G/A) 10 135491787 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491987 C/T) 10 135491987 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492016 G/A) 10 135492016 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492049 G/T) 10 135492049 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492084 C/T) 10 135492084 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492085 G/A) 10 135492085 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492776 G/A) 10 135492776 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492782 G/T) 10 135492782 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492793 G/A) 10 135492793 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492808 C/A) 10 135492808 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492810 G/A) 10 135492810 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492854 G/A) 10 135492854 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492855 C/T) 10 135492855 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493804 T/G) 10 135493804 T G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs201800023 (chr10:135493877 A/C) 10 135493877 A C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493907 A/G) 10 135493907 A G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493929 G/A) 10 135493929 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493936 A/G) 10 135493936 A G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493940 C/T) 10 135493940 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs199955597 (chr10:135493946 C/A) 10 135493946 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494000 C/T) 10 135494000 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494008 G/A) 10 135494008 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494014 G/A) 10 135494014 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494021 G/A) 10 135494021 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494033 C/T) 10 135494033 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200792906 (chr10:135494059 G/A) 10 135494059 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200475510 (chr10:135494157 C/A) 10 135494157 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs199991370 (chr10:135494165 C/A) 10 135494165 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200609721 (chr10:135494252 C/A) 10 135494252 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200202091 (chr10:135494257 G/A) 10 135494257 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494340 G/C) 10 135494340 G C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494354 G/A) 10 135494354 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494393 G/T) 10 135494393 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494422 C/T) 10 135494422 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494445 C/T) 10 135494445 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494455 C/T) 10 135494455 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494475 C/T) 10 135494475 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494476 G/A) 10 135494476 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494504 G/A) 10 135494504 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494514 C/G) 10 135494514 C G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494517 C/T) 10 135494517 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494525 G/A) 10 135494525 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494526 C/T) 10 135494526 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494530 C/T) 10 135494530 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494532 C/T) 10 135494532 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494536 G/C) 10 135494536 G C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494554 G/A) 10 135494554 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494557 G/A) 10 135494557 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494584 G/A) 10 135494584 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494587 G/A) 10 135494587 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494588 C/T) 10 135494588 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494590 C/T) 10 135494590 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494599 C/T) 10 135494599 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494605 C/T) 10 135494605 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494609 G/A) 10 135494609 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494614 G/A) 10 135494614 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494623 G/A) 10 135494623 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494626 C/A) 10 135494626 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494632 G/A) 10 135494632 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494654 C/T) 10 135494654 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494655 G/A) 10 135494655 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494664 C/T) 10 135494664 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494670 C/T) 10 135494670 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494967 C/G) 10 135494967 C G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494970 G/C) 10 135494970 G C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs201616598 (chr10:135494985 G/C) 10 135494985 G C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495037 G/A) 10 135495037 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495044 C/T) 10 135495044 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495054 C/T) 10 135495054 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495061 C/A) 10 135495061 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200867431 (chr10:135495064 G/A) 10 135495064 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495070 G/T) 10 135495070 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495081 C/T) 10 135495081 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495083 G/T) 10 135495083 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495092 G/A) 10 135495092 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495097 G/A) 10 135495097 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200443906 (chr10:135495297 C/T) 10 135495297 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200364111 (chr10:135495326 G/A) 10 135495326 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495384 G/A) 10 135495384 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495394 C/T) 10 135495394 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135496092 G/T) 10 135496092 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs202083120 (chr10:135496118 C/A) 10 135496118 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs201639011 (chr10:135497176 A/C) 10 135497176 A C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497206 A/G) 10 135497206 A G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497235 A/G) 10 135497235 A G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497239 C/T) 10 135497239 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs199890429 (chr10:135497245 C/A) 10 135497245 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497264 C/T) 10 135497264 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497284 C/T) 10 135497284 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs187336431 (chr10:135497299 C/T) 10 135497299 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497307 G/A) 10 135497307 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497319 C/T) 10 135497319 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs192063109 (chr10:135497320 G/A) 10 135497320 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs183675791 (chr10:135497332 C/T) 10 135497332 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497350 G/A) 10 135497350 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497357 C/T) 10 135497357 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs111976845 (chr10:135497358 G/A) 10 135497358 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497377 T/C) 10 135497377 T C No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs186261149 (chr10:135497398 C/T) 10 135497398 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497417 G/A) 10 135497417 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497456 C/A) 10 135497456 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs190679214 (chr10:135497464 C/A) 10 135497464 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497619 G/A) 10 135497619 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs182705550 (chr10:135497639 G/C) 10 135497639 G C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497643 C/A) 10 135497643 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497653 G/A) 10 135497653 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497664 C/T) 10 135497664 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497669 T/C) 10 135497669 T C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497670 G/A) 10 135497670 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497744 C/T) 10 135497744 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497748 G/T) 10 135497748 G T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497774 C/T) 10 135497774 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497775 G/A) 10 135497775 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs188771625 (chr10:135497813 C/G) 10 135497813 C G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497816 C/T) 10 135497816 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs200789780 (chr10:135497825 C/T) 10 135497825 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497829 C/T) 10 135497829 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497831 C/T) 10 135497831 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs201903847 (chr10:135497835 G/C) 10 135497835 G C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497855 C/T) 10 135497855 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs112638242 (chr10:135497886 G/A) 10 135497886 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497887 C/T) 10 135497887 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs113010147 (chr10:135497898 C/T) 10 135497898 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497908 G/A) 10 135497908 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497912 C/T) 10 135497912 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497918 C/T) 10 135497918 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497922 G/A) 10 135497922 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs112561965 (chr10:135497925 C/A) 10 135497925 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs180817465 (chr10:135497969 C/T) 10 135497969 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497970 G/A) 10 135497970 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498266 C/G) 10 135498266 C G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498269 G/C) 10 135498269 G C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498284 G/C) 10 135498284 G C No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs182833990 (chr10:135498318 G/A) 10 135498318 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498343 C/T) 10 135498343 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs113084860 (chr10:135498380 C/T) 10 135498380 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498390 C/T) 10 135498390 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498588 C/A) 10 135498588 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs184444133 (chr10:135498596 C/T) 10 135498596 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498604 C/A) 10 135498604 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs199800255 (chr10:135498613 A/G) 10 135498613 A G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498624 C/T) 10 135498624 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498625 G/A) 10 135498625 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498686 G/T) 10 135498686 G T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498694 G/A) 10 135498694 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135515806 G/T) 10 135515806 G T Not on a known gene +. (chr10:135515820 C/G) 10 135515820 C G Not on a known gene +. (chr10:135515944 C/T) 10 135515944 C T Not on a known gene +rs879164280 (chr11:87422 T/C) 11 87422 T C Not on a known gene +rs12278773 11 294523 C T - PGGHG 26210 Protein-glucosylgalactosylhydroxylysine glucosidase NM_025092.4 1 3268 2214 NP_079368.3 Q32M88 substitution intron GRCh37 294523 294523 Chr11(GRCh37):g.294523C>T 2021-33 2021-33 NM_025092.4:c.2021-33C>T p.? p.? 14 13 617032 -33 3' 90.0488 XII.15 0.949883 12.1449 90.0488 XII.15 0.949883 12.0226 0 Cryptic Acceptor Weakly Activated 294537 7.23583 0.468165 79.5413 7.90285 0.451469 82.3142 rs12278773 yes no Frequency/1000G 2 T 0.000000 0 0.004306 0.005854 0.003585 0.004741 0.002245 0.010707 0.003140 0.005236 0.004147 0.010707 633 66 67 26 27 152 222 59 14 147012 11274 18690 5484 12026 14196 70698 11268 3376 0.000041 0.000177 0.000000 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 3 1 0 0 0 0 2 0 0 627 64 67 26 27 152 218 59 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.279 255 PASS 0.33 0.33 0.35 0.28 0.35 . . . . . . . . . . . 0.41269842 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.2033 . . . . . . . . 6.198e-03 . . . 0.0071 0.0031 0.0002 0.0021 0.0008 0.0026 0 0.0050 0.0077 0.0027 0.0001 0.0018 0.0012 0.0021 0 0.0051 . . . . . . intronic intronic intronic . . . @ . . . 0.1 0.1 182 ENSG00000142102 ATHL1 ATHL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs12278773 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0045 0.0036 0.0048 0.0023 0.0069 0.0033 0.0051 0.0107 0.0103 0.0028 0.0020 0 0.0018 0.0009 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.35 rs12278773 rs12278773 rs12278773 rs12278773 1 1538 10 1/0 0,255,255 +rs12273516 11 294537 G A - PGGHG 26210 Protein-glucosylgalactosylhydroxylysine glucosidase NM_025092.4 1 3268 2214 NP_079368.3 Q32M88 substitution intron GRCh37 294537 294537 Chr11(GRCh37):g.294537G>A 2021-19 2021-19 NM_025092.4:c.2021-19G>A p.? p.? 14 13 617032 -19 3' 90.0488 XII.15 0.949883 12.1449 90.0488 13.2593 0.957389 13.9111 0.011877 rs12273516 yes no Frequency/1000G 2 A 0.000000 0 0.001270 0.000999 0.000899 0.001969 0.000574 0.003983 0.000813 0.002119 0.001543 0.003983 194 11 18 12 7 57 61 23 5 152760 11008 20028 6094 12200 14312 75022 10856 3240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 194 11 18 12 7 57 61 23 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.360 249 PASS 0.21 0.2 0.21 0.16 0.23 . . . . . . . . . . . 0.30508474 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.0078 . . . . . . . . 3.001e-03 . . . 0.0052 0.0021 8.851e-05 0.0011 0.0004 0.0015 0 0.0047 0.0058 0.0018 0 0.0012 0.0010 0.0011 0 0.0048 . . . . . . intronic intronic intronic . . . @ . . . 0.1 0.14 182 ENSG00000142102 ATHL1 ATHL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs12273516 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0013 0.0009 0.0020 0.0006 0.0020 0.0008 0.0017 0.0040 0.0013 0.0009 0 0 0 0.0032 0.0003 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.23 rs12273516 rs12273516 rs12273516 rs12273516 1 1538 10 1/0 0,255,255 +rs9667990 (chr11:314207 C/G) 11 314207 C G Transcript NM_003641.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) IFITM1 +rs114282733 11 373419 C A - B4GALNT4 26315 Beta-1,4-N-acetyl-galactosaminyl transferase 4 NM_178537.4 1 3454 3120 NP_848632.2 Q76KP1 substitution intron GRCh37 373419 373419 Chr11(GRCh37):g.373419C>A 637-30 637-30 NM_178537.4:c.637-30C>A p.? p.? 7 6 -30 3' 79.6902 8.76829 0.927129 XI.23 79.6902 8.76829 0.927129 XI.62 0 rs114282733 yes no Frequency/1000G 2 0.000000 0 transversion C A C>A 0.008 1.739 213 PASS . . . . . . . . . . . . . . . . 0.19607843 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||B4GALNT4|mRNA|CODING|NM_178537|) . . . . . . . 0.2736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.24 182 ENSG00000182272 B4GALNT4 B4GALNT4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114282733 0.076 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.076 . . rs114282733 rs114282733 1 1538 10 1/0 0,255,255 +rs149366587 11 421046 C G - ANO9 20679 Anoctamin 9 NM_001012302.2 -1 2875 2349 NP_001012302.2 A1A5B4 substitution splice site GRCh37 421046 421046 Chr11(GRCh37):g.421046C>G 1393-4 1393-4 NM_001012302.2:c.1393-4G>C p.? p.? 17 16 -4 3' 74.9195 IX.38 0.694738 XII.32 74.9195 9.00796 0.784571 XI.34 0.0163555 rs149366587 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.000800 0.010200 0.000000 0.009900 0.007200 0.008223 0.001775 0.005183 0.004758 0.000053 0.021585 0.009549 0.003342 0.007839 0.021585 2244 42 177 47 1 656 1186 85 50 272880 23664 34150 9878 18782 30392 124204 25432 6378 0.000154 0.000000 0.000000 0.000202 0.000000 0.000790 0.000081 0.000079 0.000627 21 0 0 1 0 12 5 1 2 2202 42 177 45 1 632 1176 83 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8516 4393 12909 70 9 79 0.00815281 0.00204453 0.00608254 0.00815281 0.00204453 0.00608254 24 transversion G C G>C 0.000 -0.924 255 PASS . 0.0046 0.0028 . 0.01 0.0008 0.0052 0.0072 . 0.0099 0.01 . . . . . 0.52380955 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . 0.002 0.0061 0.0082 0.002 0.0061 0.0082 . 0.5345 . . . . . . . . 8.329e-03 . . . 0.0023 0.0104 0.0045 0.0002 0.0019 0.0109 0.0158 0.0242 0.0022 0.0089 0.0043 0.0001 0.0025 0.0085 0.0206 0.0242 . . . . . . intronic intronic intronic . . . 0.0052 . . . 0.3 0.28 182 ENSG00000185101 ANO9 ANO9 . . . . . . 615 0.00946503 64976 589 0.00981896 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149366587 . . . . . . . . . . . . . . . . . . . . 0 0.008 . 0.006083 . . . . . 0.0019 0.0086 0.0051 0.0049 5.826e-05 0.0031 0.0098 0.0083 0.0216 0.0016 0.0053 0.0095 0 0 0.0052 0.0080 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149366587 rs149366587 1 1538 10 1/0 0,255,255 +rs199751579 11 556048 G A - LMNTD2 28561 Lamin tail domain containing 2 NM_173573.2 -1 2098 1905 NP_775844.2 Q8IXW0 substitution missense exon GRCh37 556048 556048 Chr11(GRCh37):g.556048G>A 1325 1325 NM_173573.2:c.1325C>T p.Pro442Leu p.Pro442Leu 11 -53 5' 76.9822 5.43728 0.097307 XI.61 76.9822 5.43728 0.097307 XI.54 0 Intermediate filament, C-terminal rs199751579 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.004316 0.001426 0.003013 0.004323 0.000081 0.001843 0.006369 0.004670 0.003382 0.006369 909 24 86 37 1 48 626 70 17 210634 16834 28544 8558 12352 26044 98288 14988 5026 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000398 2 0 0 0 0 0 1 0 1 905 24 86 37 1 48 624 70 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7053 3294 10347 37 4 41 0.00521862 0.00121286 0.00394686 0.00521862 0.00121286 0.00394686 11 transition C T C>T 0.000 -0.844 P Pro CCC 0.328 L Leu CTC 0.197 442 12 4 Olive baboon -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 231.39 52.42 Tolerated 0.27 III.44 good 5.368E-1 0.4722 255 PASS . 0.01 0.0028 0.01 0.01 . 0.0004 . . 0.002 . ENSG00000185522:ENST00000329451:exon11:c.C1325T:p.P442L C11orf35:uc001lpx.3:exon11:c.C1325T:p.P442L LMNTD2:NM_173573:exon11:c.C1325T:p.P442L . . 0.5 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.127 . . 36.0 . . . 0.0012 0.0039 0.0052 0.0012 0.0039 0.0052 . -1.6487 -1.753 -1.649 c . . . . . 3.975e-03 . . . 0.0015 0.0047 0.0033 0.0002 0.0044 0.0079 0.0020 0.0019 0.0015 0.0044 0.0031 0.0001 0.0042 0.0066 0.0056 0.0019 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.983 . . exonic exonic exonic . . 0.017 0.0004 . . . 0.16 0.52 182 ENSG00000185522 C11orf35 LMNTD2 . . . 1.000 0.747 . 389 0.00598683 64976 386 0.00643483 59986 Uncertain_significance . 0 . 0.051 . . . . D 0.793 0.114 . . 37 . 0.899 . . 0.833 . . . 0.112 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 1 0.086 . . . . . 0.002 . 0.086 . HET 0.18 rs199751579 . . . . . . . 0.005494505494505495 0.0 0.0027624309392265192 0.008741258741258742 0.0079155672823219 0.2779 0.001072 ENST00000329451 4.VI -6.43 . 0.160000 Q8IXW0 . . . 0.003947 . 0.043 . . . 0.0013 0.0043 0.0031 0.0045 9.316e-05 0.0042 0.0064 0.0030 0.0018 0.0015 0.0044 0.0012 0 0 0.0064 0.0063 0.0051 . . 0.495 . -1.625 -1.625000 . . 0.160000 . . 1.0E-255 0.002 0.151 . 0.016 0.002 . 0.046 . 0.045 -1.625 -0.481 0.01 . . rs199751579 rs199751579 1 1538 10 1/0 0,255,255 +rs199751579 11 556048 G A - LRRC56 25430 Leucine rich repeat containing 56 NM_198075.3 1 2774 1629 NP_932341.1 Q8IYG6 substitution downstream GRCh37 556048 556048 Chr11(GRCh37):g.556048G>A *1772 *1772 NM_198075.3:c.*1772G>A p.? p.? 14 2086 3' 83.6695 9.57281 0.956704 9.0988 83.6695 9.57281 0.956704 9.0988 0 rs199751579 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.004316 0.001426 0.003013 0.004323 0.000081 0.001843 0.006369 0.004670 0.003382 0.006369 909 24 86 37 1 48 626 70 17 210634 16834 28544 8558 12352 26044 98288 14988 5026 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000398 2 0 0 0 0 0 1 0 1 905 24 86 37 1 48 624 70 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7053 3294 10347 37 4 41 0.00521862 0.00121286 0.00394686 0.00521862 0.00121286 0.00394686 11 transition G A G>A 0.000 -0.844 255 PASS . 0.01 0.0028 0.01 0.01 . 0.0004 . . 0.002 . ENSG00000185522:ENST00000329451:exon11:c.C1325T:p.P442L C11orf35:uc001lpx.3:exon11:c.C1325T:p.P442L LMNTD2:NM_173573:exon11:c.C1325T:p.P442L . . 0.5 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.127 . . 36.0 . . . 0.0012 0.0039 0.0052 0.0012 0.0039 0.0052 . -1.6487 -1.753 -1.649 c . . . . . 3.975e-03 . . . 0.0015 0.0047 0.0033 0.0002 0.0044 0.0079 0.0020 0.0019 0.0015 0.0044 0.0031 0.0001 0.0042 0.0066 0.0056 0.0019 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.983 . . exonic exonic exonic . . 0.017 0.0004 . . . 0.16 0.52 182 ENSG00000185522 C11orf35 LMNTD2 . . . 1.000 0.747 . 389 0.00598683 64976 386 0.00643483 59986 Uncertain_significance . 0 . 0.051 . . . . D 0.793 0.114 . . 37 . 0.899 . . 0.833 . . . 0.112 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 1 0.086 . . . . . 0.002 . 0.086 . HET 0.18 rs199751579 . . . . . . . 0.005494505494505495 0.0 0.0027624309392265192 0.008741258741258742 0.0079155672823219 0.2779 0.001072 ENST00000329451 4.VI -6.43 . 0.160000 Q8IXW0 . . . 0.003947 . 0.043 . . . 0.0013 0.0043 0.0031 0.0045 9.316e-05 0.0042 0.0064 0.0030 0.0018 0.0015 0.0044 0.0012 0 0 0.0064 0.0063 0.0051 . . 0.495 . -1.625 -1.625000 . . 0.160000 . . 1.0E-255 0.002 0.151 . 0.016 0.002 . 0.046 . 0.045 -1.625 -0.481 0.01 . . rs199751579 rs199751579 1 1538 10 1/0 0,255,255 +rs200922487 11 560710 A G - LMNTD2 28561 Lamin tail domain containing 2 NM_173573.2 -1 2098 1905 NP_775844.2 Q8IXW0 substitution missense exon GRCh37 560710 560710 Chr11(GRCh37):g.560710A>G 7 7 NM_173573.2:c.7T>C p.Trp3Arg p.Trp3Arg 1 -28 5' 77.9039 6.58677 0.863904 8.36611 77.9039 6.58677 0.863904 VIII.14 0 rs200922487 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000800 0.002000 0.000000 0.008000 0.001400 0.008587 0.002096 0.005283 0.031291 0.000000 0.004853 0.010763 0.005853 0.007410 0.031291 880 21 64 189 0 70 439 76 21 102484 10020 12114 6040 3282 14424 40786 12984 2834 0.000234 0.000000 0.000000 0.001656 0.000000 0.000000 0.000196 0.000308 0.000706 12 0 0 5 0 0 4 2 1 856 21 64 179 0 70 431 72 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7044 3474 10518 34 6 40 0.00480362 0.00172414 0.0037886 0.00480362 0.00172414 0.0037886 4 transition T C T>C 0.000 -1.247 W Trp TGG 1.000 R Arg CGG 0.207 3 12 2 Chimp -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 275.49 21.IV Tolerated 0.06 III.43 bad 6.783E-5 0.0103 255 PASS . . . . . 0.0008 0.0024 0.0014 . 0.008 0.002 ENSG00000185522:ENST00000329451:exon1:c.T7C:p.W3R C11orf35:uc001lpx.3:exon1:c.T7C:p.W3R LMNTD2:NM_173573:exon1:c.T7C:p.W3R . . 0.5217391 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.045 . . 69.0 . . . 0.0017 0.0038 0.0048 0.0017 0.0038 0.0048 . -1.6832 -1.799 -1.683 c . . . . . 3.908e-03 . . . 0.0050 0.0190 0.0426 0 0 0.0434 0.0179 0.0089 0.0059 0.0189 0.0357 0 0 0.0470 0.0192 0.0089 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.022 0.0024 . . . 0.38 0.34 182 ENSG00000185522 C11orf35 LMNTD2 . . . 1.000 0.747 . 778 0.0119737 64976 766 0.0127696 59986 Likely_benign . 0 . 0.015 . . . . . . . . . 37 . 0.288 . . 0.167 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.912 . . . . . 0.039 . 0.200 . HET 0 rs200922487 . . . . . . . . . . . . II.52 0.001336 ENST00000329451 II.84 -5.68 . 0.000000 Q8IXW0 . . . 0.003789 . 0.057 . . . 0.0030 0.0092 0.0049 0.0312 0 0.0053 0.0112 0.0086 0.0049 0.0020 0.0071 0.0108 0.0331 0 0.0075 0.0101 0.0051 . . 0.001 . -1.245 -1.245000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.010 . 0.016 -1.245 -0.062 0.0048 . . rs200922487 rs200922487 1 1538 10 1/0 0,255,255 +rs200922487 11 560710 A G - RASSF7 1166 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 NM_003475.3 1 1537 1122 NP_003466.1 Q02833 substitution upstream GRCh37 560710 560710 Chr11(GRCh37):g.560710A>G -775 -775 NM_003475.3:c.-775A>G p.? p.? 1 143023 -768 5' 90.6189 10.0684 0.989032 9.38701 90.6189 10.0684 0.989032 9.38701 0 rs200922487 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000800 0.002000 0.000000 0.008000 0.001400 0.008587 0.002096 0.005283 0.031291 0.000000 0.004853 0.010763 0.005853 0.007410 0.031291 880 21 64 189 0 70 439 76 21 102484 10020 12114 6040 3282 14424 40786 12984 2834 0.000234 0.000000 0.000000 0.001656 0.000000 0.000000 0.000196 0.000308 0.000706 12 0 0 5 0 0 4 2 1 856 21 64 179 0 70 431 72 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7044 3474 10518 34 6 40 0.00480362 0.00172414 0.0037886 0.00480362 0.00172414 0.0037886 4 transition A G A>G 0.000 -1.247 255 PASS . . . . . 0.0008 0.0024 0.0014 . 0.008 0.002 ENSG00000185522:ENST00000329451:exon1:c.T7C:p.W3R C11orf35:uc001lpx.3:exon1:c.T7C:p.W3R LMNTD2:NM_173573:exon1:c.T7C:p.W3R . . 0.5217391 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.045 . . 69.0 . . . 0.0017 0.0038 0.0048 0.0017 0.0038 0.0048 . -1.6832 -1.799 -1.683 c . . . . . 3.908e-03 . . . 0.0050 0.0190 0.0426 0 0 0.0434 0.0179 0.0089 0.0059 0.0189 0.0357 0 0 0.0470 0.0192 0.0089 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.022 0.0024 . . . 0.38 0.34 182 ENSG00000185522 C11orf35 LMNTD2 . . . 1.000 0.747 . 778 0.0119737 64976 766 0.0127696 59986 Likely_benign . 0 . 0.015 . . . . . . . . . 37 . 0.288 . . 0.167 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.912 . . . . . 0.039 . 0.200 . HET 0 rs200922487 . . . . . . . . . . . . II.52 0.001336 ENST00000329451 II.84 -5.68 . 0.000000 Q8IXW0 . . . 0.003789 . 0.057 . . . 0.0030 0.0092 0.0049 0.0312 0 0.0053 0.0112 0.0086 0.0049 0.0020 0.0071 0.0108 0.0331 0 0.0075 0.0101 0.0051 . . 0.001 . -1.245 -1.245000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.010 . 0.016 -1.245 -0.062 0.0048 . . rs200922487 rs200922487 1 1538 10 1/0 0,255,255 +rs144876874 11 884002 A G - CHID1 28474 Chitinase domain containing 1 NM_001142676.1 -1 3399 1257 NP_001136148.1 substitution intron GRCh37 884002 884002 Chr11(GRCh37):g.884002A>G 878+66 878+66 NM_001142676.1:c.878+66T>C p.? p.? 10 10 615692 66 5' 70.4593 7.67679 0.845453 8.91466 70.4593 7.67679 0.845453 8.80052 0 rs144876874 yes no Frequency/1000G 2 A 0.000000 0 0.003594 0.000000 0.001000 0.000000 0.009900 0.010100 0.007342 0.002063 0.008353 0.003311 0.000000 0.000000 0.012229 0.002862 0.008180 0.012229 227 18 7 1 0 0 183 10 8 30918 8724 838 302 1618 0 14964 3494 978 0.008811 0.000000 0.000000 0.000000 0.000000 0.000000 0.010929 0.000000 0.000000 2 0 0 0 0 0 2 0 0 223 18 7 1 0 0 179 10 8 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition T C T>C 0.000 -0.602 255 PASS . 0.0037 0.01 . 0.01 . 0.0036 0.01 . 0.0099 0.001 . . . . . 0.4852941 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.0729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.28 0.02 182 ENSG00000177830 CHID1 CHID1 . . . . . . 489 0.00752586 64976 471 0.00785183 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144876874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0073 0.0084 0.0033 0 0.0029 0.0122 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144876874 rs144876874 1 1538 10 1/0 0,255,255 +. 11 903860 T G - CHID1 28474 Chitinase domain containing 1 NM_001142676.1 -1 3399 1257 NP_001136148.1 substitution intron GRCh37 903860 903860 Chr11(GRCh37):g.903860T>G 112-82 112-82 NM_001142676.1:c.112-82A>C p.? p.? 3 2 615692 -82 3' 89.178 6.70853 0.966226 10.0801 89.178 6.70853 0.966226 10.212 0 903860 -69.5829 0.000041 0.000137 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000137 1 1 0 0 0 0 0 0 0 24688 7318 554 250 1464 0 12278 2094 730 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transversion A C A>C 0.244 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.7470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177830 CHID1 CHID1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.051e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs115593063 11 1016581 T C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016581 1016581 Chr11(GRCh37):g.1016581T>C 6220 6220 NM_005961.2:c.6220A>G p.Thr2074Ala p.Thr2074Ala 31 158374 -820 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs115593063 yes no Frequency 1 T 0.000000 0 0.000102 0.000000 0.000000 0.000000 0.000000 0.004902 0.000000 0.000000 0.000000 0.004902 1 0 0 0 0 1 0 0 0 9834 520 344 434 34 204 7838 278 182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4145020 Thyroid 0.001339 747 transition A G A>G 0.000 -1.005 T Thr ACC 0.361 A Ala GCC 0.403 2074 11 2 Rat 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.53 IV.32 unknown 0.0 0.0 244 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.A6220G:p.T2074A MUC6:uc001lsw.2:exon31:c.A6220G:p.T2074A MUC6:NM_005961:exon31:c.A6220G:p.T2074A . . 0.30627307 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.069 . . 271.0 . . . . . . . . . . -1.9033 -1.943 -1.903 c . . . . . 1.833e-04 . . . 0.0035 0.0020 0 0.0064 0 0.0012 0 0.0066 0 0.0013 0 0.0045 0 0.0008 0 0.0067 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.204 . . exonic exonic exonic . . 0.031 @ . . . 0.37 0.43 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . . . . . . T 0.052 0.003 . . 37 . 0.050 . . 0.387 . . . 0.017 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.318 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.121 . . . . . 0.133 . 0.019 . HET 0.22 rs115593063 . . . . . . . . . . . . IV.93 0.025557 ENST00000421673 II.46 -4.6 . 0.590000 Q6W4X9 . . . . . 0.041 . . . 0 0.0002 0 0 0 0 0 0 0.0049 0 0 0 0 0 0 0 0 . . 0.056 . -1.148 -1.148000 . . 0.590000 . . 1.0000000000000001E-244 0.000 0.063 . 0.016 0.000 . 0.006 . 0.006 -1.148 -1.458 . . . rs115593063 rs115593063 1 1538 10 1/0 0,200,233 +. 11 1016593 C T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016593 1016593 Chr11(GRCh37):g.1016593C>T 6208 6208 NM_005961.2:c.6208G>A p.Gly2070Arg p.Gly2070Arg 31 158374 -832 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 Cryptic Donor Strongly Activated 1016596 0.009184 59.1778 1.81361 0.047939 63.5402 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 244046 15272 33292 9822 17248 30718 110128 22132 5434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 445 Exomes COSM4554414 Skin 0.000812 1232 transition G A G>A 0.000 -0.117 G Gly GGG 0.250 R Arg AGG 0.207 2070 11 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 122 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G6208A:p.G2070R MUC6:uc001lsw.2:exon31:c.G6208A:p.G2070R MUC6:NM_005961:exon31:c.G6208A:p.G2070R . . 0.101809956 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.393 . @ . . . . . 1 0.516 . . 442.0 . . . . . . . . . . -1.1393 -1.239 -1.139 c . . . . . 7.926e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.193 . . exonic exonic exonic . . 0.122 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.088 0.004 . . 37 . 0.154 . . 0.378 . . . 0.488 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.307 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 2 0.784 . . . . . 0.186 . 0.049 . LowAF 0.01 . . . . . . . . . . . . . V.75 . ENST00000421673 II.46 -0.289 . 0.550000 Q6W4X9 . . . . . 0.110 . . . 0 4.098e-06 0 0 0 0 0 0 3.255e-05 . . . . . . . . . . 0.056 . -0.043 -0.043000 . . 0.550000 . . 1.0E-122 0.000 0.063 . 0.016 0.001 . 0.082 . 0.046 -0.043 0.791 . . . . . 1 1538 10 1/0 0,164,255 +rs148590913 11 1016604 A G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016604 1016604 Chr11(GRCh37):g.1016604A>G 6197 6197 NM_005961.2:c.6197T>C p.Val2066Ala p.Val2066Ala 31 158374 -843 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs148590913 yes no Frequency 1 A 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000167 0.000022 0.000000 0.000000 0.000167 2 0 0 0 0 1 1 0 0 83786 5506 11990 3292 3468 5982 46492 5306 1750 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145026|COSM4145026|COSM4145026 Upper aerodigestive tract|Thyroid|Large intestine 0.012058|0.001339|0.000450 1244|747|2220 transition T C T>C 0.000 -3.346 V Val GTG 0.468 A Ala GCG 0.107 2066 11 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 150 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T6197C:p.V2066A MUC6:uc001lsw.2:exon31:c.T6197C:p.V2066A MUC6:NM_005961:exon31:c.T6197C:p.V2066A . . 0.15068494 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.010 . . 438.0 . . . . . . . . . . -2.3451 -2.395 -2.345 c . . . . . 9.673e-04 . . . 0.0011 0.0016 0.0010 0.0009 0.0005 0.0018 0 0.0029 0.0008 0.0014 0.0009 0.0008 0.0003 0.0015 0 0.0029 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.178 . . exonic exonic exonic . . 0.043 @ . . . 0.43 0.42 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.045 . . 0.160 . . . 0.094 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.047 . . . . . 0.211 . 0.012 . HET 0.65 rs148590913 . . . . . . . . . . . . VI.76 . ENST00000421673 I.77 -3.55 . 1.000000 Q6W4X9 . . . . . 0.015 . . . 0 1.28e-05 0 0 0 0 0 0 0.0002 0 0.0002 0 0 0 0 0.0002 0 . . 0.000 . -3.678 -3.678000 . . 1.000000 . . 1.0E-150 0.000 0.063 . 0.016 0.000 . 0.028 . 0.001 -3.678 -1.613 . . . rs148590913 rs148590913 1 1538 10 1/0 0,169,248 +rs147913342 11 1016605 C G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016605 1016605 Chr11(GRCh37):g.1016605C>G 6196 6196 NM_005961.2:c.6196G>C p.Val2066Leu p.Val2066Leu 31 158374 -844 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 Cryptic Acceptor Strongly Activated 1016594 4,00E-06 1.14121 1.9e-05 64.6357 rs147913342 yes no Frequency/1000G 2 C 0.000000 0 0.000057 0.000000 0.000000 0.000000 0.000446 0.000223 0.000051 0.000000 0.000000 0.000446 4 0 0 0 1 1 2 0 0 69590 4058 10980 2896 2244 4484 39208 4126 1594 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3931184|COSM3931184 Urinary tract|Upper aerodigestive tract 0.001488|0.012058 672|1244 transversion G C G>C 0.000 -0.682 V Val GTG 0.468 L Leu CTG 0.404 2066 11 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.82 IV.32 unknown 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G6196C:p.V2066L MUC6:uc001lsw.2:exon31:c.G6196C:p.V2066L MUC6:NM_005961:exon31:c.G6196C:p.V2066L . . 0.10526316 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.032 . . 456.0 . . . . . . . . . . -1.4187 -1.525 -1.419 c . . . . . 8.324e-04 . . . 0.0007 0.0017 0.0013 0.0015 0 0.0017 0 0.0037 0.0008 0.0015 0.0012 0.0011 0 0.0015 0 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.179 . . exonic exonic exonic . . 0.043 @ . . . 0.39 0.42 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.062 . . 0.346 . . . 0.281 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 0 0 . 0.167 . . 0.121 . . . . . . 2 0.163 . . . . . 0.005 . 0.036 . LowAF 0.49 rs147913342 . . . . . . . . . . . . 0.4927 . ENST00000421673 I.77 -3.55 . 0.260000 Q6W4X9 . . . . . 0.080 . . . 0 1.567e-05 0 0 0 0 0 0 0.0002 0 0.0005 0 0 0.0238 0 0.0004 0 . . 0.000 . -0.860 -0.860000 . . 0.260000 . . 1.0E-176 0.000 0.063 . 0.016 0.000 . 0.056 . 0.090 -0.860 -0.615 . . . rs147913342 rs147913342 1 1538 10 1/0 0,161,255 +rs749819621 11 1016833 G T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016833 1016833 Chr11(GRCh37):g.1016833G>T 5968 5968 NM_005961.2:c.5968C>A p.Gln1990Lys p.Gln1990Lys 31 158374 -1072 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs749819621 yes no Frequency 1 G 0.000000 0 0.000146 0.001225 0.000059 0.000000 0.000056 0.000000 0.000075 0.000165 0.000000 0.001225 38 22 2 0 1 0 9 4 0 261144 17952 33920 10116 17754 30782 120384 24298 5938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 22 2 0 1 0 9 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4183365 Large intestine 0.000450 2220 transversion C A C>A 0.000 -1.005 Q Gln CAG 0.744 K Lys AAG 0.575 1990 11 2 Mouse 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 0.82 IV.32 unknown 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5968A:p.Q1990K MUC6:uc001lsw.2:exon31:c.C5968A:p.Q1990K MUC6:NM_005961:exon31:c.C5968A:p.Q1990K . . 0.10494403 . . @ 225 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.058 . . 2144.0 . . . . . . . . . . -1.7047 -1.753 -1.705 c . . . . . 6.531e-03 . . . 0.0054 0.0060 0.0137 0.0041 0.0060 0.0057 0.0070 0.0025 0.0061 0.0070 0.0140 0.0055 0.0059 0.0074 0.0072 0.0026 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.196 . . exonic exonic exonic . . 0.033 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.072 . . 0.361 . . . 0.082 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.410 . . . . . 0.235 . 0.052 . LowAF 0.02 rs71472140 . . . . . . . . . . . . VI.73 0.00321 ENST00000421673 II.97 -4.45 . 0.230000 Q6W4X9 . . . . . 0.048 . . . 0 0 0 0 0 0 0 0 0 0.0083 0.0026 0.0058 0 0.0020 0.0020 0.0010 0 . . 0.820 . -0.632 -0.632000 . . 0.230000 . . 1.0E-176 0.000 0.063 . 0.043 0.001 . 0.029 . 0.010 -0.632 0.015 . rs10751676 . . . 1 1538 10 1/0 0,94,205 +rs75538227 11 1017036 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017036 1017036 Chr11(GRCh37):g.1017036G>A 5765 5765 NM_005961.2:c.5765C>T p.Thr1922Ile p.Thr1922Ile 31 158374 -1275 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs75538227 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57596 2100 8478 3186 1236 6124 29202 5852 1418 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3794 Exomes COSM4145046|COSM4145046|COSM4145046 Upper aerodigestive tract|Thyroid|Large intestine 0.016077|0.004016|0.000901 1244|747|2220 transition C T C>T 0.000 0.367 T Thr ACT 0.243 I Ile ATT 0.356 1922 11 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 193 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5765T:p.T1922I MUC6:uc001lsw.2:exon31:c.C5765T:p.T1922I MUC6:NM_005961:exon31:c.C5765T:p.T1922I . . 0.14114833 . . @ 177 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.307 . @ . . . . . 1 0.495 . . 1254.0 . . . . . . . . . . -1.0979 -1.178 -1.098 c . . . . . 3.953e-05 . . . 0 2.008e-05 0 0 0 4.303e-05 0 0 0 1.635e-05 0 0 0 3.102e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.255 . . exonic exonic exonic . . 0.116 @ . . . 0.39 0.45 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.301 0.012 . . 37 . 0.142 . . 0.264 . . . 0.404 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.316 . . 0 0 0 0 0 0 . 0.230 . . 0.218 . . . . . . 2 0.632 . . . . . 0.066 . 0.078 . LowAF 0.03 rs75538227 0.217 0.174 . . . . . . . . . . III.73 . ENST00000421673 3.II -0.441 . 0.090000 Q6W4X9 . . . . . 0.105 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.553 . -0.211 -0.211000 . . 0.090000 . . 1.0E-193 0.000 0.063 . 0.043 0.039 . 0.088 . 0.324 -0.211 -0.607 0.22 . . rs75538227 rs75538227 1 1538 10 1/0 0,120,224 +rs75482640 11 1017041 G T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution stop gain exon GRCh37 1017041 1017041 Chr11(GRCh37):g.1017041G>T 5760 5760 NM_005961.2:c.5760C>A p.Tyr1920* p.Tyr1920* 31 158374 -1280 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs75482640 yes no Frequency 1 G 0.000000 0 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000171 0.000000 0.000171 1 0 0 0 0 0 0 1 0 60088 8468 4466 1992 5022 4354 28442 5852 1492 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3931190|COSM3931190|COSM3931190 Urinary tract|Upper aerodigestive tract|Thyroid 0.002976|0.016077|0.004016 672|1244|747 transversion C A C>A 0.000 -1.086 Y Tyr TAC 0.562 * * TAA 0.277 1920 225 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5760A:p.Y1920X MUC6:uc001lsw.2:exon31:c.C5760A:p.Y1920X MUC6:NM_005961:exon31:c.C5760A:p.Y1920X . . 0.22485207 . . @ 266 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.940 . @ . . . . . 0 0.176 . . 1183.0 . . . . . . . . . . -0.7139 -1.163 -0.714 c . . . . . 1.845e-04 . . . 0 0.0002 0 0.0004 0.0009 0.0004 0 0 0 0.0002 0 0.0002 0.0006 0.0002 0.0028 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.020 @ . . . 0.39 0.45 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.050 . . . HET 0.28 rs75482640 . . . . . . . . . . . . II.68 . ENST00000421673 3.II -6.04 . 1.000000 . . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 0 4.475e-05 0 0 0 0.0005 0 0 . . 0.553 . -1.057 -1.057000 . . 1.000000 . . 1.0E-225 0.000 0.063 . 0.043 0.020 . 0.004 . 0.107 -1.057 -1.479 . . . rs75482640 rs75482640 1 1538 10 1/0 0,131,204 +rs80049949 11 1017042 T G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017042 1017042 Chr11(GRCh37):g.1017042T>G 5759 5759 NM_005961.2:c.5759A>C p.Tyr1920Ser p.Tyr1920Ser 31 158374 -1281 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs80049949 yes no Frequency 1 T 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000183 0.000000 0.000183 1 0 0 0 0 0 0 1 0 54598 7490 4070 1834 4730 4068 25570 5474 1362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3931192|COSM3931192|COSM3931192 Urinary tract|Upper aerodigestive tract|Thyroid 0.008929|0.016077|0.004016 672|1244|747 transversion A C A>C 0.000 0.205 Y Tyr TAC 0.562 S Ser TCC 0.220 1920 11 1 -2 -2 -3 0.2 I.42 6.II 9.II 136 32 144 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 234 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.A5759C:p.Y1920S MUC6:uc001lsw.2:exon31:c.A5759C:p.Y1920S MUC6:NM_005961:exon31:c.A5759C:p.Y1920S . . 0.25413403 . . @ 292 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.038 . . 1149.0 . . . . . . . . . . -1.5437 -1.459 -1.544 c . . . . . 1.845e-04 . . . 0 0.0003 0 0.0004 0.0010 0.0004 0 0 0 0.0002 0 0.0003 0.0006 0.0002 0.0029 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.150 . . exonic exonic exonic . . 0.193 @ . . . 0.4 0.49 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.355 0.015 . . 37 . 0.028 . . 0.420 . . . 0.001 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.056 . 0.055 . HET 0.75 rs80049949 . . . . . . . . . . . . II.84 . ENST00000421673 3.II 1.VI . 0.620000 Q6W4X9 . . . . . 0.009 . . . 0 0 0 0 0 0 0 0 0 0 4.971e-05 0 0 0 0.0005 0 0 . . 0.553 . 0.128 0.128000 . . 0.620000 . . 1.0E-234 0.000 0.063 . 0.043 0.002 . 0.062 . 0.105 0.128 -0.532 . . . rs80049949 rs80049949 1 1538 10 1/0 0,135,204 +rs74990443 11 1017088 A C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017088 1017088 Chr11(GRCh37):g.1017088A>C 5713 5713 NM_005961.2:c.5713T>G p.Ser1905Ala p.Ser1905Ala 31 158374 -1327 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs74990443 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 225800 12284 30944 9252 13616 28794 104218 21812 4880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 944 Exomes COSM4145052|COSM4145052 Upper aerodigestive tract|Thyroid 0.003215|0.006693 1244|747 transversion T G T>G 0.000 -2.297 S Ser TCC 0.220 A Ala GCC 0.403 1905 11 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.06 IV.32 unknown 0.0 0.0 195 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T5713G:p.S1905A MUC6:uc001lsw.2:exon31:c.T5713G:p.S1905A MUC6:NM_005961:exon31:c.T5713G:p.S1905A . . 0.14520098 . . @ 177 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.049 . . 1219.0 . . . . . . . . . . -2.0533 -2.089 -2.053 c . . . . . 2.689e-03 . . . 0.0077 0.0034 0.0017 0.0055 0.0008 0.0036 0.0028 0.0015 0.0054 0.0013 0.0015 0.0024 0.0005 0.0006 0.0014 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.020 @ . . . 0.42 0.42 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . . . . . . T 0.093 0.004 . . 37 . 0.027 . . 0.232 . . . 0.003 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.227 . . 0.301 . . . . . . 2 0.051 . . . . . 0.015 . 0.011 . LowAF 0.03 rs74990443 . . . . . . . . . . . . 1.0607 . ENST00000421673 3.I -6.01 . 0.810000 Q6W4X9 . . . . . 0.030 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.553 . -2.137 -2.137000 . . 0.810000 . . 9.999999999999999E-196 0.000 0.063 . 0.016 0.001 . 0.003 . 0.002 -2.137 -1.158 . . . rs74990443 rs74990443 1 1538 10 1/0 0,122,227 +rs77815355 11 1017556 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017556 1017556 Chr11(GRCh37):g.1017556G>A 5245 5245 NM_005961.2:c.5245C>T p.Leu1749= p.Leu1749Leu 31 158374 1215 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs77815355 yes no Frequency 1 0.000000 0 0.000267 0.001354 0.000090 0.000000 0.000000 0.000000 0.000283 0.000408 0.000180 0.001354 67 21 3 0 0 0 33 9 1 250990 15510 33392 10048 17206 30742 116454 22072 5566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 21 3 0 0 0 33 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4183425 Large intestine 0.001351 2220 transition C T C>T 0.000 1.577 L Leu CTA 0.070 L Leu TTA 0.073 1749 222 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5245T:p.L1749L MUC6:uc001lsw.2:exon31:c.C5245T:p.L1749L MUC6:NM_005961:exon31:c.C5245T:p.L1749L . . 0.21646623 . . @ 234 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1081.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|L1749|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.8204 . . . . . . . . 5.725e-04 . . . 0.0004 0.0004 0.0003 0.0005 0.0005 0.0005 0.0030 0.0001 0.0005 0.0005 0.0002 0.0005 0.0005 0.0006 0.0045 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.47 182 ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77815355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0559 0.0093 0.0349 0 0 0.18 0.0053 0.0067 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs77815355 rs77815355 1 1538 10 1/0 0,134,209 +rs796934918 11 1017573 G C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017573 1017573 Chr11(GRCh37):g.1017573G>C 5228 5228 NM_005961.2:c.5228C>G p.Ala1743Gly p.Ala1743Gly 31 158374 1198 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs796934918 no no 0 0.000000 0 0.000159 0.000716 0.000059 0.000000 0.000000 0.000000 0.000151 0.000310 0.000175 0.000716 41 13 2 0 0 0 18 7 1 257730 18150 33684 10098 17610 30764 119140 22562 5722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 13 2 0 0 0 18 7 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4590918|COSM4590918 Upper aerodigestive tract|Large intestine 0.007235|0.000450 1244|2220 transversion C G C>G 0.000 0.286 A Ala GCC 0.403 G Gly GGC 0.342 1743 11 3 Macaque 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.65 III.81 unknown 0.0 0.0 197 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5228G:p.A1743G MUC6:uc001lsw.2:exon31:c.C5228G:p.A1743G MUC6:NM_005961:exon31:c.C5228G:p.A1743G . . 0.15075922 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.041 . . 922.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A1743G|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -0.6293 -0.877 -0.629 c . . . . . . . . . 0 6.809e-05 0 0.0002 0 0.0001 0 0 0 9.669e-05 0 0.0003 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.134 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.238 . . 0.213 . . . 0.360 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.117 . . 0 0 0 0 0 0 . 0.541 . . 0.553 . . . . . . 0 0.433 . . . . . 0.187 . 0.061 . HET 0.25 . . . . . . . . . . . . . 6.0227 . ENST00000421673 2.I 0.0305 . 0.580000 Q6W4X9 . . . . . 0.109 . . . 0 0 0 0 0 0 0 0 0 0.0045 0.0035 0.0120 0 0 0.0208 0.0024 0.0039 . . 0.000 . 0.013 0.013000 . . 0.580000 . . 1.0E-197 0.000 0.063 . 0.043 0.001 . 0.143 . 0.283 0.013 -0.083 . . . . . 1 1538 10 1/0 0,135,236 +rs76886285 11 1017581 A G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017581 1017581 Chr11(GRCh37):g.1017581A>G 5220 5220 NM_005961.2:c.5220T>C p.Phe1740= p.Phe1740Phe 31 158374 1190 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs76886285 yes no Frequency 1 0.000000 0 0.000130 0.001080 0.000066 0.000000 0.000000 0.000000 0.000068 0.000150 0.000000 0.001080 19 11 1 0 0 0 5 2 0 146440 10188 15098 4546 11782 14502 73808 13376 3140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 11 1 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145080|COSM4145080 Thyroid|Stomach 0.001339|0.001138 747|879 transition T C T>C 0.000 0.448 F Phe TTT 0.454 F Phe TTC 0.546 1740 213 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T5220C:p.F1740F MUC6:uc001lsw.2:exon31:c.T5220C:p.F1740F MUC6:NM_005961:exon31:c.T5220C:p.F1740F . . 0.1911589 . . @ 160 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 837.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F1740|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.6918 . . . . . . . . 9.927e-03 . . . 0.0108 0.0155 0.0079 0.0025 0.0020 0.0089 0.0233 0.0499 0.0114 0.0137 0.0081 0.0032 0.0022 0.0074 0.0262 0.0502 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.49 182 ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76886285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.197e-06 0 0 0 0 0 0 0 0.0151 0.0024 0.0147 0 0 0.0132 0.0008 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs76886285 rs76886285 1 1538 10 1/0 0,143,230 +rs200995870 11 1017591 C G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017591 1017591 Chr11(GRCh37):g.1017591C>G 5210 5210 NM_005961.2:c.5210G>C p.Arg1737Pro p.Arg1737Pro 31 158374 1180 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs200995870 yes no Frequency 1 0.000000 0 0.000135 0.000626 0.000000 0.000000 0.000000 0.000216 0.000113 0.000121 0.000285 0.000626 22 6 0 0 0 4 9 2 1 163412 9584 20622 6602 8344 18494 79778 16478 3510 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 4 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145082|COSM4145082|COSM4145082 Upper aerodigestive tract|Thyroid|Large intestine 0.004823|0.004016|0.001802 1244|747|2220 transversion G C G>C 0.000 -4.314 R Arg CGA 0.110 P Pro CCA 0.274 1737 11 1 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 197 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G5210C:p.R1737P MUC6:uc001lsw.2:exon31:c.G5210C:p.R1737P MUC6:NM_005961:exon31:c.G5210C:p.R1737P . . 0.27004218 . . @ 192 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.020 . . 711.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R1737P|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -2.9907 -3.052 -2.991 c . . . . . 2.127e-04 . . . 0.0003 0.0003 0.0002 0 0.0004 0.0002 0 0.0005 0.0002 0.0002 0.0003 0.0002 0.0002 0.0002 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.036 @ . . . 0.47 0.46 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.054 . . 0.223 . . . 0.010 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.165 . . 0.040 . . . . . . 0 0.243 . . . . . 0.011 . 0.055 . HET 0.26 rs200995870 . . . . . . . . . . . . 0.8772 . ENST00000421673 2.VII -4.14 . 0.310000 Q6W4X9 . . . . . 0.020 . . . 0.0001 4.502e-05 0 0 0 0 2.709e-05 0 0.0002 0.0038 0.0019 0 0 0 0.0179 0.0012 0.0058 . . 0.002 . -5.372 -5.372000 . . 0.310000 . . 1.0E-197 0.000 0.063 . 0.016 0.000 . 0.007 . 0.001 -5.372 -3.706 . . . . . 1 1538 14 1/0 0,160,225 +rs773903463 11 1017592 G C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017592 1017592 Chr11(GRCh37):g.1017592G>C 5209 5209 NM_005961.2:c.5209C>G p.Arg1737Gly p.Arg1737Gly 31 158374 1179 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs773903463 yes no Frequency 1 0.000000 0 0.001011 0.002494 0.000000 0.000000 0.000000 0.000000 0.000775 0.011905 0.000000 0.011905 8 2 0 0 0 0 5 1 0 7916 802 86 256 56 0 6454 84 178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 2 0 0 0 0 5 1 0 0 0 0 0 0 0 0 0 0 RF 569 Genomes COSM4596681|COSM4596681|COSM4596681 Upper aerodigestive tract|Large intestine|Central nervous system 0.003215|0.000450|0.000420 1244|2220|2383 transversion C G C>G 0.000 0.448 R Arg CGA 0.110 G Gly GGA 0.246 1737 11 1 -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 158 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5209G:p.R1737G MUC6:uc001lsw.2:exon31:c.C5209G:p.R1737G MUC6:NM_005961:exon31:c.C5209G:p.R1737G . . 0.16503496 . . @ 118 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.186 . @ . . . . . 1 0.037 . . 715.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R1737G|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -1.0403 -1.079 -1.040 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.187 . . exonic exonic exonic . . 0.259 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.092 . . 0.279 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.063 . . 0 0 0 0 0 0 . 0.275 . . 0.205 . . . . . . 0 0.299 . . . . . 0.182 . 0.032 . HET 0.36 . . . . . . . . . . . . . V.33 . ENST00000421673 2.VII 2.VII . 0.360000 Q6W4X9 . . . . . 0.125 . . 2.VII . . . . . . . . . 0.0025 0.0010 0 0 0 0.0119 0.0008 0 . . 0.002 . 1.477 1.477000 . . 0.360000 . . 1.0E-158 0.000 0.063 . 0.016 0.001 . 0.167 . 0.093 1.477 0.868 . . . . . 1 1538 14 1/0 0,150,244 +rs111641154 11 1017595 A C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017595 1017595 Chr11(GRCh37):g.1017595A>C 5206 5206 NM_005961.2:c.5206T>G p.Ser1736Ala p.Ser1736Ala 31 158374 1176 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs111641154 yes no Frequency 1 0.000000 0 0.000013 0.000138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000138 3 2 0 0 0 0 0 1 0 239676 14502 30936 9684 16110 29492 112342 21360 5250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3734109|COSM3734109|COSM3734109 Thyroid|Pancreas|Large intestine 0.002677|0.000576|0.000450 747|1736|2220 transversion T G T>G 0.000 -3.023 S Ser TCC 0.220 A Ala GCC 0.403 1736 11 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.06 IV.32 unknown 0.0 0.0 186 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T5206G:p.S1736A MUC6:uc001lsw.2:exon31:c.T5206G:p.S1736A MUC6:NM_005961:exon31:c.T5206G:p.S1736A . . 0.12573965 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.033 . . 676.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S1736A|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -2.1893 -2.259 -2.189 c . . . . . 3.852e-04 . . . 0.0003 0.0004 0.0002 0.0015 0.0008 0.0004 0 0.0003 0.0002 0.0004 0.0002 0.0012 0.0005 0.0003 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.204 . . exonic exonic exonic . . 0.036 @ . . . 0.52 0.48 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.044 . . 0.115 . . . 0.017 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.209 . . 0.212 . . . . . . 0 0.035 . . . . . 0.002 . 0.016 . LowAF 0.02 rs111641154 . . . . . . . . . . . . 0.2856 0.004597 ENST00000421673 2.VII -4.14 . 0.900000 Q6W4X9 . . . . . 0.022 . . . 0 0 0 0 0 0 0 0 0 0.0051 0.0004 0 0 0 0.0135 0 0 . . 0.002 . -3.541 -3.541000 . . 0.900000 . . 1.0E-186 0.000 0.063 . 0.016 0.000 . 0.002 . 0.003 -3.541 -2.132 . . . rs111641154 rs111641154 1 1538 10 1/0 0,146,255 +rs201198887 11 1017597 T G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017597 1017597 Chr11(GRCh37):g.1017597T>G 5204 5204 NM_005961.2:c.5204A>C p.Gln1735Pro p.Gln1735Pro 31 158374 1174 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs201198887 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000176 0.000000 1 0 0 0 0 0 0 0 1 254856 16712 33622 10084 17376 30764 118298 22334 5666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4596516|COSM4596516 Upper aerodigestive tract|Large intestine 0.003215|0.000450 1244|2220 transversion A C A>C 0.000 -0.602 Q Gln CAA 0.256 P Pro CCA 0.274 1735 11 3 Mouse -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 200 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.A5204C:p.Q1735P MUC6:uc001lsw.2:exon31:c.A5204C:p.Q1735P MUC6:NM_005961:exon31:c.A5204C:p.Q1735P . . 0.15873016 . . @ 110 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.062 . @ . . . . . 1 0.031 . . 693.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cCa|Q1735P|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -0.7551 -1.083 -0.755 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.208 . . exonic exonic exonic . . 0.036 @ . . . 0.5 0.5 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.301 . . 0.155 . . . 0.498 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.592 . . 0.610 . . . . . . 0 0.144 . . . . . 0.434 . 0.078 . HET 0.22 rs201198887 . . . . . . . . . . . . X.57 . ENST00000421673 2.VII -4.14 . 0.340000 Q6W4X9 . . . . . 0.073 . . . 0 0 0 0 0 0 0 0 0 0 0.0001 0 0 0 0 0 0.0051 . . 0.002 . -1.292 -1.292000 . . 0.340000 . . 1.0E-200 0.000 0.063 . 0.095 0.007 . 0.044 . 0.273 -1.292 0.846 . . . rs201198887 rs201198887 1 1538 10 1/0 0,148,245 +rs202206004 11 1017623 C G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017623 1017623 Chr11(GRCh37):g.1017623C>G 5178 5178 NM_005961.2:c.5178G>C p.Met1726Ile p.Met1726Ile 31 158374 1148 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 Cryptic Acceptor Strongly Activated 1017618 0.000832 65.6815 0.348854 0.005517 68.6272 rs202206004 yes no Frequency/1000G 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 207078 13434 26188 7236 16084 24398 96376 18960 4402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 761 Exomes COSM5765226 Large intestine 0.000450 2220 transversion G C G>C 0.000 -0.924 M Met ATG 1.000 I Ile ATC 0.481 1726 11 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.28 IV.32 unknown 0.0 0.0 177 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G5178C:p.M1726I MUC6:uc001lsw.2:exon31:c.G5178C:p.M1726I MUC6:NM_005961:exon31:c.G5178C:p.M1726I . . 0.14354838 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.048 . . 620.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M1726I|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -1.7835 -1.831 -1.783 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.165 . . exonic exonic exonic . . 0.072 0.0004 . . . 0.49 0.47 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.052 . . 0.443 . . . 0.027 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.069 . . 0 0 0 0 0 0 . 0.209 . . 0.234 . . . . . . 0 0.119 . . . . . 0.385 . 0.034 . LowAF 0.25 . . . . . . . . . . . . . IX.19 . ENST00000421673 0.956 -1.91 . 0.410000 Q6W4X9 . . . . . 0.029 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.003 . -0.792 -0.792000 . . 0.410000 . . 1.0E-177 0.000 0.063 . 0.043 0.005 . 0.028 . 0.058 -0.792 0.356 . . . . . 1 1538 10 1/0 0,152,252 +rs796974437 11 1017639 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017639 1017639 Chr11(GRCh37):g.1017639G>A 5162 5162 NM_005961.2:c.5162C>T p.Thr1721Ile p.Thr1721Ile 31 158374 1132 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 0.000126 0.000436 0.000030 0.000000 0.000173 0.000000 0.000085 0.000399 0.000352 0.000436 32 7 1 0 3 0 10 9 2 254402 16044 33670 10102 17356 30780 118222 22554 5674 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 7 1 0 3 0 10 9 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.135 T Thr ACA 0.280 I Ile ATA 0.163 1721 11 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.06 IV.32 unknown 0.0 0.0 173 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5162T:p.T1721I MUC6:uc001lsw.2:exon31:c.C5162T:p.T1721I MUC6:NM_005961:exon31:c.C5162T:p.T1721I . . 0.10486891 . . @ 84 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.061 . . 801.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T1721I|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -1.5404 -1.704 -1.540 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.241 . . exonic exonic exonic . . 0.088 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.197 . . 0.335 . . . 0.592 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 0.506 . . . . . 0.003 . 0.030 . LowAF 0 . . . . . . . . . . . . . 0.3669 . ENST00000421673 0.628 -1.26 . 0.170000 Q6W4X9 . . . . . 0.035 . . . 0 0 0 0 0 0 0 0 0 0.0094 0.0039 0.0109 0 0.0278 0.0346 0.0015 0.0101 . . 0.000 . -1.877 -1.877000 . . 0.170000 . . 1.0E-173 0.000 0.063 . 0.074 0.002 . 0.017 . 0.043 -1.877 -0.093 . . . . . 1 1538 10 1/0 0,137,251 +rs111294390 11 1017679 A G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017679 1017679 Chr11(GRCh37):g.1017679A>G 5122 5122 NM_005961.2:c.5122T>C p.Ser1708Pro p.Ser1708Pro 31 158374 1092 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs111294390 yes no Frequency 1 G 0.000000 0 0.000069 0.000329 0.000000 0.000000 0.000120 0.000000 0.000043 0.000180 0.000185 0.000329 17 5 0 0 2 0 5 4 1 247334 15200 31682 10070 16734 29910 116130 22216 5392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 5 0 0 2 0 5 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4591856|COSM4591856 Upper aerodigestive tract|Large intestine 0.017685|0.001351 1244|2220 transition T C T>C 0.000 -3.911 S Ser TCA 0.148 P Pro CCA 0.274 1708 11 2 Rat -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.37 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T5122C:p.S1708P MUC6:uc001lsw.2:exon31:c.T5122C:p.S1708P MUC6:NM_005961:exon31:c.T5122C:p.S1708P . . 0.34843907 . . @ 346 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.046 . . 993.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Cca|S1708P|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -1.9938 -2.080 -1.994 c . . . . . 1.028e-04 . . . 0.0003 0.0001 0 0 0 0.0002 0 6.098e-05 0.0002 7.727e-05 0 0 0 9.4e-05 0 6.131e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.243 . . exonic exonic exonic . . 0.044 @ . . . 0.48 0.49 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.070 . . 0.138 . . . 0.018 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.082 . . . . . 0.005 . 0.031 . HET 0.13 rs111294390 . . . . . . . . . . . . 0.4744 0.003214 ENST00000421673 I.74 -3.47 . 0.280000 Q6W4X9 . . . . . 0.014 . . . 0 4.16e-06 0 0 0 0 9.101e-06 0 0 0.0275 0.0023 0 0 0.1 0.1111 0.0006 0.0070 . . 0.000 . -4.140 -4.140000 . . 0.280000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.024 . 0.002 -4.140 -2.448 . . . rs111294390 rs111294390 1 1538 10 1/0 0,149,188 +rs112886536 11 1017684 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017684 1017684 Chr11(GRCh37):g.1017684G>A 5117 5117 NM_005961.2:c.5117C>T p.Ala1706Val p.Ala1706Val 31 158374 1087 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs112886536 yes no Frequency 1 A 0.000000 0 0.000064 0.000327 0.000000 0.000000 0.000118 0.000000 0.000051 0.000090 0.000185 0.000327 16 5 0 0 2 0 6 2 1 248150 15298 31674 10076 16944 29770 116714 22274 5400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 5 0 0 2 0 6 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8559 4350 12909 13 52 65 0.00151657 0.0118128 0.00501002 0.00151657 0.0118128 0.00501002 677 COSM5446646 Large intestine 0.001351 2220 transition C T C>T 0.000 0.205 A Ala GCC 0.403 V Val GTC 0.240 1706 11 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.05 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5117T:p.A1706V MUC6:uc001lsw.2:exon31:c.C5117T:p.A1706V MUC6:NM_005961:exon31:c.C5117T:p.A1706V . . 0.3491062 . . @ 332 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.069 . @ . . . . . 1 0.021 . . 951.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A1706V|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) 0.012 0.005 0.0015 0.012 0.005 0.0015 . -1.5395 -1.618 -1.539 c . . . . . 1.107e-04 . . . 0.0003 0.0001 0 0 0 0.0002 0 6.097e-05 0.0002 8.657e-05 0 0 0 0.0001 0 6.13e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.196 . . exonic exonic exonic . . 0.057 @ . . . 0.41 0.51 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.059 . . 0.304 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.098 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 0 0.039 . . . . . 0.082 . 0.006 . HET 0.07 rs112886536 . . . . . . . . . . . . III.45 0.013651 ENST00000421673 I.69 -2.64 . 0.220000 Q6W4X9 . . . 0.005010 . 0.108 . . . 0 4.147e-06 0 0 0 0 9.055e-06 0 0 0.0260 0.0021 0 0 0.125 0.0625 0.0008 0.0068 . . 0.000 . -0.637 -0.637000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.016 . 0.019 -0.637 -1.351 0.012 . . rs112886536 rs112886536 1 1538 10 1/0 0,150,187 +rs757015117 11 1017721 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017721 1017721 Chr11(GRCh37):g.1017721G>A 5080 5080 NM_005961.2:c.5080C>T p.Leu1694= p.Leu1694Leu 31 158374 1050 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs757015117 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 274424 23116 34270 10146 18754 30774 125456 25552 6356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5656054 Haematopoietic and lymphoid tissue 0.000275 3634 transition C T C>T 0.012 1.093 L Leu CTA 0.070 L Leu TTA 0.073 1694 160 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5080T:p.L1694L MUC6:uc001lsw.2:exon31:c.C5080T:p.L1694L MUC6:NM_005961:exon31:c.C5080T:p.L1694L . . 0.10214656 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1351.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|L1694|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.7674 . . . . . . . . 8.696e-05 . . . 0 3.326e-05 0 0 0 7.132e-05 0 0 0 6.626e-05 0 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs757015117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,114,232 +rs376067175 11 1017755 C T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017755 1017755 Chr11(GRCh37):g.1017755C>T 5046 5046 NM_005961.2:c.5046G>A p.Leu1682= p.Leu1682Leu 31 158374 1016 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs376067175 yes no Frequency 1 C 0.000000 0 0.000283 0.000609 0.000033 0.000000 0.000061 0.000000 0.000392 0.000354 0.000763 0.000609 69 11 1 0 1 0 44 8 4 243782 18064 30422 9778 16452 28986 112222 22614 5244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 11 1 0 1 0 44 8 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5459567|COSM5459567 Large intestine|Central nervous system 0.000901|0.000420 2220|2383 transition G A G>A 0.000 -1.247 L Leu CTG 0.404 L Leu CTA 0.070 1682 106 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G5046A:p.L1682L MUC6:uc001lsw.2:exon31:c.G5046A:p.L1682L MUC6:NM_005961:exon31:c.G5046A:p.L1682L . . 0.12409928 . . @ 155 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1249.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L1682|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.3069 . . . . . . . . 3.635e-04 . . . 0.0004 0.0004 0.0003 0.0007 0.0003 0.0005 0 0.0002 0.0001 0.0001 0.0003 0.0003 0.0002 9.213e-05 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs751152042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0030 0.0052 0.0057 0 0.0018 0.0147 0.0056 0.0135 . . . . . . . . . . . 1.0E-106 . . . . . . . . . . . . . . . . 1 1538 13 1/0 0,125,225 +rs79198757 11 1017757 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017757 1017757 Chr11(GRCh37):g.1017757G>A 5044 5044 NM_005961.2:c.5044C>T p.Leu1682= p.Leu1682Leu 31 158374 1014 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs79198757 yes no Frequency 1 G 0.000000 0 0.000178 0.000548 0.000029 0.000000 0.000000 0.000000 0.000206 0.000292 0.000503 0.000548 47 11 1 0 0 0 25 7 3 264594 20088 33904 10124 18212 30782 121508 24010 5966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 11 1 0 0 0 25 7 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 L Leu CTG 0.404 L Leu TTG 0.127 1682 106 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5044T:p.L1682L MUC6:uc001lsw.2:exon31:c.C5044T:p.L1682L MUC6:NM_005961:exon31:c.C5044T:p.L1682L . . 0.11499611 . . @ 148 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1287.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1682|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.7331 . . . . . . . . 1.581e-04 . . . 9.942e-05 0.0001 0 0 0 0.0002 0 0.0001 0.0001 7.557e-05 0 0 0 9.202e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.46 182 ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs755230268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0023 0.0026 0.0030 0 0 0.0041 0.0025 0.0062 . . . . . . . . . . . 1.0E-106 . . . . . . . . . . . . . . rs79198757 rs79198757 1 1538 10 1/0 0,122,235 +rs75684592 11 1017782 C T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017782 1017782 Chr11(GRCh37):g.1017782C>T 5019 5019 NM_005961.2:c.5019G>A p.Leu1673= p.Leu1673Leu 31 158374 989 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs75684592 yes no Frequency 1 C 0.000000 0 0.000091 0.000336 0.000030 0.000000 0.000000 0.000000 0.000100 0.000083 0.000335 0.000336 24 7 1 0 0 0 12 2 2 263758 20826 33692 10012 18174 30692 120432 23966 5964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 1 0 0 0 12 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.167 L Leu CTG 0.404 L Leu CTA 0.070 1673 180 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G5019A:p.L1673L MUC6:uc001lsw.2:exon31:c.G5019A:p.L1673L MUC6:NM_005961:exon31:c.G5019A:p.L1673L . . 0.112436116 . . @ 132 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1174.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L1673|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.4283 . . . . . . . . . . . . 0 0.0002 0 0 0.0016 0.0001 0.0014 6.061e-05 0 0.0001 0 0 0.0014 1.84e-05 0.0014 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.48 182 ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75684592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0012 0.0012 0.0024 0 0 0.0011 0.0011 0.0036 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75684592 rs75684592 1 1538 10 1/0 0,121,237 +rs757263289 11 1017786 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017786 1017786 Chr11(GRCh37):g.1017786G>A 5015 5015 NM_005961.2:c.5015C>T p.Thr1672Met p.Thr1672Met 31 158374 985 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 Cryptic Acceptor Strongly Activated 1017773 1.1124 8,00E-06 65.152 2.35335 3.3e-05 68.2676 rs757263289 yes no Frequency 1 G 0.000000 0 0.000085 0.000308 0.000029 0.000000 0.000000 0.000000 0.000088 0.000080 0.000322 0.000308 23 7 1 0 0 0 11 2 2 271902 22724 34184 10134 18632 30728 124332 24948 6220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 1 0 0 0 11 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM2107878 Large intestine 0.000450 2220 transition C T C>T 0.000 0.125 T Thr ACG 0.116 M Met ATG 1.000 1672 11 5 Cat -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0.05 III.73 unknown 0.0 0.0 178 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5015T:p.T1672M MUC6:uc001lsw.2:exon31:c.C5015T:p.T1672M MUC6:NM_005961:exon31:c.C5015T:p.T1672M . . 0.10858586 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.300 . @ . . . . . 1 0.259 . . 1188.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1672M|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -0.5037 -0.753 -0.504 c . . . . . 1.818e-04 . . . 9.952e-05 0.0002 8.648e-05 0 0 0.0002 0 0.0006 0.0001 0.0001 8.917e-05 0 0 1.84e-05 0 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.148 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.183 0.007 . . 37 . 0.199 . . 0.159 . . . 0.631 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.622 . . 0.435 . . . . . . 0 0.682 . . . . . 0.091 . 0.244 . LowAF 0.02 rs757263289 . . . . . . . . . . . . 4.0209 . ENST00000421673 I.31 0.271 . 0.230000 Q6W4X9 . . . . . 0.164 . . . 0 0 0 0 0 0 0 0 0 0.0009 0.0009 0.0016 0 0 0.0008 0.0009 0.0027 . . 0.000 . 0.091 0.091000 . . 0.230000 . . 1.0E-178 0.000 0.063 . 0.062 0.001 . 0.088 . 0.306 0.091 -0.021 . . . . . 1 1538 10 1/0 0,120,241 +rs147211853 11 1078456 C T - MUC2 7512 Mucin 2, oligomeric mucus/gel-forming ENST00000441003.2 1 8637 8454 NP_002448.3 substitution missense exon GRCh37 1078456 1078456 Chr11(GRCh37):g.1078456C>T 664 664 ENST00000441003.2:c.664C>T p.Arg222Cys p.Arg222Cys 6 158370 1 3' 76.0676 9.94225 0.633333 XII.52 75.5819 10.0646 0.702464 XII.61 0.0383569 Uncharacterised domain, cysteine-rich rs147211853 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.001000 0.000000 0.007000 0.007200 0.004246 0.000918 0.003957 0.009941 0.000000 0.002703 0.006255 0.000928 0.003546 0.009941 1118 21 133 98 0 82 740 22 22 263314 22882 33610 9858 18396 30336 118314 23714 6204 0.000015 0.000000 0.000060 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 2 0 1 0 0 0 1 0 0 1114 21 131 98 0 82 738 22 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8288 4043 12331 50 11 61 0.00599664 0.00271337 0.00492253 0.00599664 0.00271337 0.00492253 20 transition C T C>T 0.992 2.465 R Arg CGC 0.190 C Cys TGC 0.552 222 11 8 Horse -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 98.78 131.79 Deleterious 0 IV.32 255 PASS . 0.0032 0.01 . 0.01 . 0.0026 0.0072 . 0.007 0.001 . MUC2:uc001lsx.1:exon6:c.C664T:p.R222C MUC2:NM_002457:exon6:c.C664T:p.R222C . . 0.5141243 . . @ 91 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 177.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R222C|MUC2|mRNA|CODING|NM_002457|NM_002457.ex.6) 0.0027 0.0049 0.006 0.0027 0.0049 0.006 . 0.4383 . . . . . . . . 4.202e-03 . . . 0.0015 0.0056 0.0037 0 0.0008 0.0098 0.0020 0.0023 0.0014 0.0050 0.0033 0 0.0010 0.0079 0.0021 0.0023 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.16 0.28 182 ENSG00000198788 MUC2 MUC2 . . . . . . 208 0.00320118 64976 195 0.00325076 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 rs147211853 . 0.007 . . . . . 0.003205128205128205 0.0 0.008287292817679558 0.0 0.005277044854881266 15.6219 0.002377 . 3.VII 3.VII . . E7EUV1 . . . 0.004923 . . . . 3.VII 0.0008 0.0043 0.0040 0.0098 0 0.0007 0.0062 0.0036 0.0027 0.0010 0.0039 0.0036 0.0133 0 0.0020 0.0063 0.0031 . . . . 1.908 1.908000 . . . . . 1.0E-255 . . . . . . . . . 1.908 . 0.01 . . rs147211853 rs147211853 1 1538 10 1/0 0,239,255 +rs371736174 (chr11:1212789 G/A) 11 1212789 G A Not on a known gene +rs796230823 (chr11:1212803 G/A) 11 1212803 G A Not on a known gene +rs77015916 (chr11:1212813 C/A) 11 1212813 C A Not on a known gene +rs111218897 (chr11:1212825 C/T) 11 1212825 C T Not on a known gene +rs137895563 (chr11:1212846 T/C) 11 1212846 T C Not on a known gene +rs796069032 (chr11:1212864 C/T) 11 1212864 C T Not on a known gene +rs75826663 (chr11:1212871 T/C) 11 1212871 T C Not on a known gene +rs796683904 (chr11:1212878 C/G) 11 1212878 C G Not on a known gene +rs200292517 (chr11:1212902 C/G) 11 1212902 C G Not on a known gene +rs75313475 (chr11:1212909 C/A) 11 1212909 C A Not on a known gene +rs77782040 (chr11:1212921 C/T) 11 1212921 C T Not on a known gene +rs201069081 (chr11:1212942 T/C) 11 1212942 T C Not on a known gene +rs76103892 (chr11:1212966 C/T) 11 1212966 C T Not on a known gene +rs148720899 (chr11:1212967 T/C) 11 1212967 T C Not on a known gene +rs74742636 (chr11:1213017 C/T) 11 1213017 C T Not on a known gene +rs765843853 (chr11:1213143 T/C) 11 1213143 T C Not on a known gene +rs77643550 (chr11:1213159 C/A) 11 1213159 C A Not on a known gene +rs760913090 (chr11:1213274 A/C) 11 1213274 A C Not on a known gene +rs74888789 (chr11:1213539 C/T) 11 1213539 C T Not on a known gene +rs76792834 (chr11:1213554 C/T) 11 1213554 C T Not on a known gene +rs781251312 11 1252116 G A - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution intron GRCh37 1252116 1252116 Chr11(GRCh37):g.1252116G>A 1471-50 1471-50 NM_002458.2:c.1471-50G>A p.? p.? 13 12 600770 -50 3' 84.0528 XI.86 0.98456 XII.29 84.0528 XI.86 0.98456 XII.03 0 rs781251312 no no 0 G 0.000000 0 0.000017 0.000000 0.000040 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000040 3 0 1 0 0 0 2 0 0 180358 16378 25288 8492 12116 23012 71448 18796 4828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -2.135 255 PASS . . . . . . . . . . . . . . . . 0.5194805 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . INTRON(MODIFIER||||MUC5B|mRNA|CODING|NM_002458|) . . . . . . . 0.2981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000117983 MUC5B MUC5B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781251312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.338e-05 4.09e-05 0 0 0 1.771e-05 0 0 0 3.236e-05 0 0 0 0 6.678e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 11 1252181 G C - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1252181 1252181 Chr11(GRCh37):g.1252181G>C 1486 1486 NM_002458.2:c.1486G>C p.Ala496Pro p.Ala496Pro 13 600770 16 3' 84.0528 XI.86 0.98456 XII.29 84.0528 XI.86 0.985693 12.834 0.000383589 von Willebrand factor, type D domain transversion G C G>C 0.937 0.367 A Ala GCG 0.107 P Pro CCG 0.115 496 8 6 Cow -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 226.12 0.00 Deleterious 0.03 III.50 bad 4.641E-4 0.01247 255 PASS . . . . . . . . . . . . . MUC5B:NM_002458:exon13:c.G1486C:p.A496P . . 0.5304348 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.130 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Ccg|A496P|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.13) . . . . . . . -0.5635 -0.559 -0.563 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.570 . . exonic exonic exonic . . 0.326 @ . . . . . . ENSG00000117983 MUC5B MUC5B . . . 0.087 0.160 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.749 0.087 . . 37 . 0.355 . . 0.348 . . . 0.321 0.228 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.338 . . 0.357 . . . . . . 0 0.267 . . . . . 0.023 . 0.466 . HET . . . . . . . . . . . . . . I.54 . . III.93 II.89 . 0.000000 . . . . . . 0.124 . . II.89 . . . . . . . . . . . . . . . . . . . 0.052 . 1.726 1.726000 . . 0.000000 . . 1.0E-255 0.277 0.249 . 0.234 0.035 . 0.160 . 0.379 1.726 -0.048 . . . . . 1 1538 10 1/0 0,254,255 +rs201605309 11 1252215 C T - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1252215 1252215 Chr11(GRCh37):g.1252215C>T 1520 1520 NM_002458.2:c.1520C>T p.Thr507Met p.Thr507Met 13 600770 -21 5' 89.8263 9.80181 0.964099 XI.37 89.8263 9.80181 0.964099 XI.19 0 Cryptic Acceptor Strongly Activated 1252220 5.55754 0.113508 73.2817 6.55883 0.157585 76.8273 von Willebrand factor, type D domain rs201605309 yes no Frequency 1 C 0.000000 0 0.000768 0.000096 0.000830 0.000212 0.000000 0.000985 0.001082 0.000315 0.000684 0.001082 190 2 27 2 0 27 121 7 4 247402 20894 32516 9438 17208 27420 111838 22240 5848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 190 2 27 2 0 27 121 7 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8262 3934 12196 8 0 8 0.000967352 0 0.000655523 0.000967352 0 0.000655523 15 transition C T C>T 0.992 1.981 T Thr ACG 0.116 M Met ATG 1.000 507 8 6 Horse -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 215.31 64.73 Deleterious 0 III.50 bad 1.022E-4 9.091E-5 255 PASS . . . . . . . . . . . . . MUC5B:NM_002458:exon13:c.C1520T:p.T507M . . 0.47008547 . . @ 55 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.465 . @ . . . . . 1 0.287 . . 117.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T507M|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.13) . 0.0007 0.001 . 0.0007 0.001 . 0.4579 0.367 0.458 c . . . . . 7.423e-04 . . . 0.0005 0.0014 0.0013 0 0 0.0023 0 0.0008 0.0003 0.0015 0.0014 0 0 0.0023 0.0041 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.599 . . exonic exonic exonic . . 0.445 @ . . . 0.14 0.54 182 ENSG00000117983 MUC5B MUC5B . . . 0.750 0.233 . 23 0.000353977 64976 23 0.000383423 59986 Uncertain_significance . 0 . . . . . . D 0.851 0.174 . . 37 . 0.723 . . 0.641 . . . 0.513 0.257 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.839 . . 0 0 0 0 0 0 . 0.899 . . 0.745 . . . . . . 0 0.654 . . . . . 0.585 . 0.444 . HET . rs201605309 . . . . . . . . . . . . 13.1051 0.0 . III.93 III.93 . 0.000000 . . . . 0.000656 . 0.443 . . III.93 0.0002 0.0008 0.0008 0.0002 0 0.0003 0.0012 0.0008 0.0010 0 0.0004 0.0012 0 0 0.0003 0.0006 0 . . 0.208 . 1.726 1.726000 . . 0.000000 . . 1.0E-255 0.611 0.276 . 0.292 0.919 . 0.527 . 0.313 1.726 0.868 0.001 . . rs201605309 rs201605309 1 1538 10 1/0 0,252,255 +rs114904991 11 1255108 T C - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution intron GRCh37 1255108 1255108 Chr11(GRCh37):g.1255108T>C 2377+30 2377+30 NM_002458.2:c.2377+30T>C p.? p.? 19 19 600770 30 5' 100 X.83 0.998638 15.0801 100 X.83 0.998638 14.9793 0 rs114904991 yes no Frequency/1000G 2 T 0.000000 0 0.000296 0.000394 0.000116 0.000000 0.001127 0.000290 0.000264 0.000000 0.000791 0.001127 58 7 3 0 15 7 22 0 4 196214 17760 25956 8638 13314 24110 83232 18148 5056 0.000010 0.000000 0.000000 0.000000 0.000150 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 56 7 3 0 13 7 22 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.008 -1.812 202 PASS 0.05 0.06 0.06 0.06 0.06 . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||MUC5B|mRNA|CODING|NM_002458|) . . . . . . . -0.3238 . . . . . . . . . . . . 0 0.0002 0.0005 0.0015 0 7.607e-05 0 0.0001 0 9.63e-05 0.0005 0 0 6.676e-05 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.15 0.33 182 ENSG00000117983 MUC5B MUC5B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114904991 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0003 0.0001 0 0.0010 0 0.0003 0.0010 0.0003 0.0005 0.0003 0 0 0.0019 0 6.931e-05 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . 0.06 . . rs114904991 rs114904991 1 1538 10 1/0 0,255,255 +rs56257795 11 1263021 G T - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution synonymous exon GRCh37 1263021 1263021 Chr11(GRCh37):g.1263021G>T 4911 4911 NM_002458.2:c.4911G>T p.Pro1637= p.Pro1637Pro 31 600770 941 3' 85.9367 X.72 0.970418 13.5756 85.9367 X.72 0.970418 13.5756 0 Cryptic Acceptor Strongly Activated 1263033 0.001368 66.4686 0.934537 0.01413 72.4646 rs56257795 yes no Frequency/1000G 2 G 0.000000 0 0.005990 0.000000 0.022500 0.000000 0.007000 0.001400 0.008475 0.001570 0.002543 0.004995 0.000000 0.019025 0.008707 0.016829 0.007707 0.019025 2315 37 87 50 0 582 1081 429 49 273148 23566 34214 10010 18764 30592 124152 25492 6358 0.000095 0.000000 0.000000 0.000200 0.000000 0.000392 0.000064 0.000157 0.000000 13 0 0 1 0 6 4 2 0 2289 37 87 48 0 570 1073 425 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8230 4046 12276 68 6 74 0.00819475 0.00148075 0.0059919 0.00819475 0.00148075 0.0059919 29 transversion G T G>T 0.000 -2.458 P Pro CCG 0.115 P Pro CCT 0.283 1637 255 PASS . 0.0018 0.0028 . 0.004 . 0.006 0.0014 . 0.007 0.022 . MUC5B:uc001lta.3:exon31:c.G4911T:p.P1637P MUC5B:NM_002458:exon31:c.G4911T:p.P1637P . . 0.5182482 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 137.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccT|P1637|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.31) 0.0015 0.006 0.0082 0.0015 0.006 0.0082 . 0.0191 . . . . . . . . 8.629e-03 . . . 0.0023 0.0096 0.0021 0 0.0205 0.0091 0.0063 0.0212 0.0022 0.0091 0.0018 0 0.0187 0.0082 0.0078 0.0212 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0060 . . . 0.36 0.24 182 ENSG00000117983 MUC5B MUC5B . . . . . . 564 0.00868013 64976 534 0.00890208 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56257795 . 0.080 . . . . . . . . . . . . . . . . . . . . . 0.005992 . . . . . 0.0015 0.0086 0.0025 0.0052 0 0.0168 0.0087 0.0067 0.0190 0.0016 0.0071 0.0036 0 0 0.0169 0.0088 0.0134 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0082 rs56257795 rs56257795 rs56257795 rs56257795 1 1538 10 1/0 0,249,255 +rs199752800 11 1265627 C T - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1265627 1265627 Chr11(GRCh37):g.1265627C>T 7517 7517 NM_002458.2:c.7517C>T p.Thr2506Ile p.Thr2506Ile 31 600770 3547 3' 85.9367 X.72 0.970418 13.5756 85.9367 X.72 0.970418 13.5756 0 rs199752800 yes no Frequency 1 C 0.000000 0 0.000273 0.000422 0.000339 0.000000 0.000521 0.000000 0.000329 0.000101 0.000187 0.000521 60 8 10 0 8 0 31 2 1 219416 18960 29460 8446 15350 27996 94110 19738 5356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 8 10 0 8 0 31 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.770 T Thr ACC 0.361 I Ile ATC 0.481 2506 8 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 215 PASS . . . . . . . . . . . . MUC5B:uc001lta.3:exon31:c.C7517T:p.T2506I MUC5B:NM_002458:exon31:c.C7517T:p.T2506I . . 0.2 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.067 . . 90.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T2506I|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.31) . . . . . . . -0.7263 -0.868 -0.726 c . . . . . 7.479e-05 . . . 0 0.0002 0.0007 0 0 0.0003 0 0 0 0.0002 0.0007 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.206 @ . . . 0.25 0.14 182 ENSG00000117983 MUC5B MUC5B . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.106 0.004 . . 37 . 0.307 . . 0.341 . . . 0.694 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.399 . . 0 0 0 0 0 0 . 0.292 . . 0.305 . . . . . . 0 0.564 . . . . . 0.308 . 0.013 . HET . rs199752800 . . . . . . . . . . . . VIII.85 . . II.24 I.29 . 0.000000 . . . . . . 0.123 . . . 0 0.0001 0.0003 0 0 0 0.0002 0.0002 0 0.0010 0.0013 0.0013 0 0.0062 0.0006 0.0014 0 . . 0.246 . 1.240 1.240000 . . 0.000000 . . 1.0E-215 0.000 0.063 . 0.016 0.000 . 0.023 . 0.102 1.240 0.021 . rs4963055 rs4963055 rs4963055 rs199752800 1 1538 10 1/0 0,240,255 +rs200110372 11 1265872 G A - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1265872 1265872 Chr11(GRCh37):g.1265872G>A 7762 7762 NM_002458.2:c.7762G>A p.Gly2588Arg p.Gly2588Arg 31 600770 3792 3' 85.9367 X.72 0.970418 13.5756 85.9367 X.72 0.970418 13.5756 0 New Acceptor Site 1265874 III.38 0.003683 66.9799 rs200110372 yes no Frequency 1 G 0.000000 0 0.001408 0.003243 0.000730 0.000398 0.001170 0.002320 0.001186 0.001137 0.001583 0.003243 383 76 25 4 22 71 147 28 10 272022 23434 34246 10054 18800 30602 123934 24636 6316 0.000015 0.000000 0.000000 0.000000 0.000000 0.000131 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 379 76 25 4 22 67 147 28 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.377 G Gly GGG 0.250 R Arg AGG 0.207 2588 8 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.22 IV.32 unknown 0.0 0.0 200 PASS . . . . . . . . . . . . MUC5B:uc001lta.3:exon31:c.G7762A:p.G2588R MUC5B:NM_002458:exon31:c.G7762A:p.G2588R . . 0.16091955 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.030 . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G2588R|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.31) . . . . . . . -1.5949 -1.792 -1.595 c . . . . . 1.285e-03 . . . 0.0034 0.0015 0.0003 0.0014 0.0005 0.0006 0.0014 0.0038 0.0032 0.0013 0.0003 0.0014 0.0005 0.0005 0.0044 0.0037 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.248 . . exonic exonic exonic . . 0.023 @ . . . 0.28 0.17 182 ENSG00000117983 MUC5B MUC5B . . . 0.014 0.125 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.122 . . 0.077 . . . 0.112 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.245 . . 0 0 0 0 0 0 . 0.156 . . 0.040 . . . . . . 0 0.654 . . . . . 0.030 . 0.159 . HET . rs200110372 . . . . . . . . . . . . I.97 . ENST00000537836 II.81 -5.62 . 0.240000 . . . . . . 0.026 . . . 0.0024 0.0010 0.0007 0.0003 0.0012 0.0002 0.0007 0.0006 0.0023 0.0047 0.0049 0.0025 0.0034 0.0013 0.0073 0.0050 0.0078 . . 0.246 . -3.443 -3.443000 . . 0.000000 . . 1.0E-200 0.000 0.063 . 0.016 0.002 . 0.001 . 0.118 -3.443 0.917 . . . rs200110372 rs200110372 1 1538 10 1/0 0,238,255 +rs2860626 11 1270487 C T - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1270487 1270487 Chr11(GRCh37):g.1270487C>T 12377 12377 NM_002458.2:c.12377C>T p.Thr4126Met p.Thr4126Met 31 600770 -2487 5' 86.7234 X.83 0.984167 8.13404 86.7234 X.83 0.984167 8.13404 0 rs2860626 yes no Frequency 1 C 0.000000 0 0.001070 0.000086 0.000995 0.000727 0.000106 0.000889 0.001453 0.001152 0.001778 0.001453 286 2 34 7 2 27 175 28 11 267234 23316 34164 9634 18820 30372 120428 24314 6186 0.000007 0.000000 0.000000 0.000000 0.000000 0.000066 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 284 2 34 7 2 25 175 28 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.037 T Thr ACG 0.116 M Met ATG 1.000 4126 8 6 Cow -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 79.02 63.95 Deleterious 0.01 III.51 bad 1.953E-3 0.002046 198 PASS . . . . . . . . . . . . MUC5B:uc001lta.3:exon31:c.C12377T:p.T4126M MUC5B:NM_002458:exon31:c.C12377T:p.T4126M . . 0.15517241 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.099 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T4126M|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.31) . . . . . . . -0.8844 -1.068 -0.884 c . . . . . 8.628e-03 . . . 0.0024 0.0060 0.0014 0 0.0212 0.0086 0.0095 0.0037 0.0025 0.0084 0.0015 0 0.0275 0.0112 0.0194 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.237 . . exonic exonic exonic . . 0.118 @ . . . 0.38 0.24 182 ENSG00000117983 MUC5B MUC5B . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.167 . . 0.105 . . . 0.203 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . 0.647 . . 0.532 . . . . . . 0 0.682 . . . . . 0.010 . 0.100 . HET . rs2860626 . . . . . . . . . . . . 0.8229 0.0 . II.99 -0.396 . 0.000000 . . . . . . 0.049 . . . 6.784e-05 0.0011 0.0010 0.0007 0.0001 0.0013 0.0015 0.0019 0.0009 0.0001 0.0007 0.0025 0 0 0.0003 0.0011 0.0011 . . 0.133 . -0.364 -0.364000 . . 0.000000 . . 1.0E-198 0.000 0.063 . 0.095 0.004 . 0.073 . 0.069 -0.364 0.827 . . . rs2860626 rs2860626 1 1538 10 1/0 0,255,255 +rs138363822 11 1606147 A G - KRTAP5-1 23596 Keratin associated protein 5-1 NM_001005922.1 -1 942 837 NP_001005922.1 Q6L8H4 substitution synonymous exon GRCh37 1606147 1606147 Chr11(GRCh37):g.1606147A>G 333 333 NM_001005922.1:c.333T>C p.Ser111= p.Ser111Ser 1 148022 rs138363822 yes no Frequency/1000G 2 A 0.000000 0 0.444289 0.529500 0.470300 0.329400 0.456300 0.394800 0.001629 0.001089 0.001561 0.002430 0.001042 0.002285 0.001591 0.001535 0.001550 0.002430 337 15 41 20 15 59 150 30 7 206824 13772 26258 8232 14394 25820 94284 19548 4516 0.000184 0.000290 0.000000 0.000243 0.000000 0.000077 0.000233 0.000307 0.000443 19 2 0 1 0 1 11 3 1 299 11 41 18 15 57 128 24 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145573|COSM4145573 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition T C T>C 0.346 0.125 S Ser TCT 0.185 S Ser TCC 0.220 111 111 PASS 0.3 0.28 0.32 0.21 0.3 0.53 0.44 0.39 0.33 0.46 0.47 ENSG00000205869:ENST00000382171:exon1:c.T333C:p.S111S KRTAP5-1:uc001ltu.1:exon1:c.T333C:p.S111S KRTAP5-1:NM_001005922:exon1:c.T333C:p.S111S . . 0.6363636 . . @ 7 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.1842 . . . . . . . . . . . . 0.0223 0.0153 0.0050 0.0061 0.0612 0.0209 0.0485 0.0037 0.0211 0.0113 0.0048 0.0038 0.0423 0.0129 0.0385 0.0037 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.4443 . . . 0.22 0.12 182 ENSG00000205869 KRTAP5-1 KRTAP5-1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs138363822 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv968n71 . . . . . . 0.0011 0.0016 0.0016 0.0024 0.0011 0.0015 0.0016 0.0014 0.0023 0.0008 0.0014 0 0 0 0.0031 0.0009 0.0060 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.32 . . rs138363822 rs138363822 1 1538 10 1/0 0,0,0 +rs4752771 11 1651643 C T - KRTAP5-5 23601 Keratin associated protein 5-5 NM_001001480.2 1 1128 714 NP_001001480.2 Q701N2 substitution synonymous exon GRCh37 1651643 1651643 Chr11(GRCh37):g.1651643C>T 573 573 NM_001001480.2:c.573C>T p.Pro191= p.Pro191Pro 1 Keratin, high sulphur B2 protein rs4752771 yes no Frequency/1000G 2 C 0.000000 0 0.001222 0.000903 0.000146 0.000997 0.001665 0.000609 0.001997 0.000242 0.000546 0.001997 185 15 3 4 22 8 127 4 2 151330 16618 20530 4014 13212 13130 63602 16560 3664 0.000119 0.000000 0.000000 0.000000 0.000000 0.000000 0.000283 0.000000 0.000000 9 0 0 0 0 0 9 0 0 166 15 3 4 22 8 108 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM428756|COSM428756|COSM428756|COSM428756|COSM428756|COSM428756|COSM428756|COSM428756 Thyroid|Prostate|Oesophagus|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system|Breast|Biliary tract 0.001339|0.001134|0.000712|0.000450|0.000566|0.001679|0.003276|0.002732 747|1764|1405|2220|3531|2383|2442|366 transition C T C>T 0.969 1.416 P Pro CCC 0.328 P Pro CCT 0.283 191 255 PASS 0.31 0.31 0.3 0.3 0.32 . . . . . . ENSG00000185940:ENST00000399676:exon1:c.C573T:p.P191P KRTAP5-5:uc001lty.3:exon1:c.C573T:p.P191P KRTAP5-5:NM_001001480:exon1:c.C573T:p.P191P . . 0.4452555 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 137.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P191|KRTAP5-5|mRNA|CODING|NM_001001480|NM_001001480.ex.1) . . . . . . . 0.0365 . . . . . . . . 5.276e-03 . . . 0 0.0005 0.0004 0.0011 0 0 0 0.0018 0 0.0005 0.0004 0.0020 0 0 0 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.16 182 ENSG00000185940 KRTAP5-5 KRTAP5-5 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4752771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0010 0.0002 0.0005 0.0017 0.0002 0.0015 0 0.0006 0.0013 0.0024 0 0.0072 0.0013 0.0003 0.0038 0.0023 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 rs28636372 rs28636372 rs4752771 rs4752771 1 1538 10 1/0 0,255,255 +. 11 2324607 T G - C11orf21 13231 Chromosome 11 open reading frame 21 NM_001142946.2 -1 2899 537 NP_001136418.1 substitution upstream GRCh37 2324607 2324607 Chr11(GRCh37):g.2324607T>G -1516 -1516 NM_001142946.2:c.-1516A>C p.? p.? 1 611033 -1622 5' 86.8044 8.70331 0.733888 8.88124 86.8044 8.70331 0.733888 8.88124 0 0.001046 0.001134 0.000855 0.000000 0.000000 0.000000 0.000742 0.004570 0.001119 0.004570 33 8 1 0 0 0 13 10 1 31558 7056 1170 482 1666 580 17522 2188 894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 8 1 0 0 0 13 10 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.521 206 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 1.0120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000064201 TSPAN32 TSPAN32 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0012 0.0014 0.0018 0 0 0.0046 0.0011 0.0014 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 11 2324607 T G - TSPAN32 13410 Tetraspanin 32 NM_139022.2 1 1376 963 NP_620591.3 Q96QS1 substitution intron GRCh37 2324607 2324607 Chr11(GRCh37):g.2324607T>G 181+419 181+419 NM_139022.2:c.181+419T>G p.? p.? 2 2 603853 419 5' 87.9846 9.65245 0.996112 7.01935 87.9846 9.65245 0.996112 7.01935 0 0.001046 0.001134 0.000855 0.000000 0.000000 0.000000 0.000742 0.004570 0.001119 0.004570 33 8 1 0 0 0 13 10 1 31558 7056 1170 482 1666 580 17522 2188 894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 8 1 0 0 0 13 10 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -0.521 206 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 1.0120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000064201 TSPAN32 TSPAN32 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0012 0.0014 0.0018 0 0 0.0046 0.0011 0.0014 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs78184020 11 3122912 G A - OSBPL5 16392 Oxysterol binding protein-like 5 NM_020896.3 -1 3887 2640 NP_065947.1 Q9H0X9 substitution synonymous exon GRCh37 3122912 3122912 Chr11(GRCh37):g.3122912G>A 1443 1443 NM_020896.3:c.1443C>T p.Pro481= p.Pro481Pro 13 606733 18 3' 80.7658 8.18422 0.447443 8.92802 80.7658 8.18422 0.541898 8.83514 0.0703665 Oxysterol-binding protein rs78184020 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.003305 0.001416 0.001686 0.000197 0.000583 0.003476 0.004969 0.001922 0.003871 0.004969 914 34 58 2 11 107 628 49 25 276538 24008 34404 10146 18860 30780 126388 25494 6458 0.000043 0.000000 0.000000 0.000000 0.000000 0.000130 0.000032 0.000000 0.000619 6 0 0 0 0 2 2 0 2 902 34 58 2 11 103 624 49 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8552 4397 12949 44 7 51 0.00511866 0.00158946 0.00392308 0.00511866 0.00158946 0.00392308 55 transition C T C>T 0.969 -0.360 P Pro CCC 0.328 P Pro CCT 0.283 481 255 PASS . 0.0018 . . 0.01 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.45360824 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . . 0.0016 0.0039 0.0051 0.0016 0.0039 0.0051 . 0.5159 . . . . . . . . 3.283e-03 . . . 0.0013 0.0033 0.0023 0.0005 0.0021 0.0047 0.0043 0.0030 0.0012 0.0032 0.0022 0.0006 0.0020 0.0043 0.0029 0.0031 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.31 0.47 182 ENSG00000021762 OSBPL5 OSBPL5 . . . . . . 250 0.00384757 64976 243 0.00405095 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78184020 . . . . . . . . . . . . . . . . . . . . . . . 0.003923 . . . . . 0.0015 0.0033 0.0017 0.0002 0.0006 0.0017 0.0050 0.0040 0.0035 0.0013 0.0031 0.0012 0 0.0006 0.0032 0.0045 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs78184020 rs78184020 1 1538 10 1/0 0,255,255 +rs200223449 11 3431630 C T - TSSC2 12384 Tumor suppressing subtransferable candidate 2 pseudogene NR_024248.1 1 1477 0 substitution downstream GRCh37 3431630 3431630 Chr11(GRCh37):g.3431630C>T *1252 *1252 NR_024248.1:n.*1252C>T p.? p.? 11 608999 1715 3' 99.1532 11.475 0.990206 14.6872 99.1532 11.475 0.990206 14.6872 0 rs200223449 no no 0 0.000000 0 0.001510 0.001110 0.001276 0.007246 0.000000 0.000000 0.002196 0.000000 0.001071 0.007246 44 9 1 2 0 0 31 0 1 29146 8108 784 276 1522 0 14116 3406 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 9 1 2 0 0 31 0 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition C T C>T 0.315 0.044 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . DOWNSTREAM(MODIFIER||||TSSC2|Non-coding_transcript|NON_CODING|NR_024248|) . . . . . . . -0.2476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.24 0.23 182 ENSG00000166492 . . . dist\x3d1252\x3bdist\x3d206832 dist\x3d1252\x3bdist\x3d97580 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200223449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0015 0.0013 0.0072 0 0 0.0022 0.0011 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs200223449 rs200223449 1 1538 10 1/0 0,243,255 +rs111587674 11 3431671 C T - TSSC2 12384 Tumor suppressing subtransferable candidate 2 pseudogene NR_024248.1 1 1477 0 substitution downstream GRCh37 3431671 3431671 Chr11(GRCh37):g.3431671C>T *1293 *1293 NR_024248.1:n.*1293C>T p.? p.? 11 608999 1756 3' 99.1532 11.475 0.990206 14.6872 99.1532 11.475 0.990206 14.6872 0 Cryptic Acceptor Strongly Activated 3431690 1.757 0.000728 61.9027 2.03111 0.001101 61.9027 rs111587674 yes no Frequency 1 0.000000 0 0.000604 0.000480 0.002500 0.000000 0.000000 0.000000 0.000762 0.000000 0.001064 0.002500 18 4 2 0 0 0 11 0 1 29824 8328 800 284 1582 0 14434 3456 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 4 2 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition C T C>T 0.031 0.044 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . DOWNSTREAM(MODIFIER||||TSSC2|Non-coding_transcript|NON_CODING|NR_024248|) . . . . . . . -0.0639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.31 0.24 182 ENSG00000166492 . . . dist\x3d1293\x3bdist\x3d206791 dist\x3d1293\x3bdist\x3d97539 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111587674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0.0025 0 0 0 0.0008 0.0011 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs111587674 rs111587674 1 1538 10 1/0 0,246,255 +rs146829053 11 4870138 G A - OR51S1 15204 Olfactory receptor, family 51, subfamily S, member 1 NM_001004758.1 -1 972 972 NP_001004758.1 Q8NGJ8 substitution missense exon GRCh37 4870138 4870138 Chr11(GRCh37):g.4870138G>A 301 301 NM_001004758.1:c.301C>T p.Pro101Ser p.Pro101Ser 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily Olfactory receptor rs146829053 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001002 0.000375 0.001105 0.000692 0.000000 0.000000 0.001672 0.000000 0.001858 0.001672 277 9 38 7 0 0 211 0 12 276536 24016 34400 10116 18858 30760 126164 25764 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 277 9 38 7 0 0 211 0 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4400 12982 14 2 16 0.00162866 0.000454339 0.00123096 0.00162866 0.000454339 0.00123096 103 transition C T C>T 0.417 0.205 P Pro CCT 0.283 S Ser TCT 0.185 101 10 8 Little brown bat -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 209.54 0.00 Tolerated 0.18 IV.32 good 1.07E-1 0.001924 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . ENSG00000176922:ENST00000322101:exon1:c.C301T:p.P101S OR51S1:uc010qyo.2:exon1:c.C301T:p.P101S OR51S1:NM_001004758:exon1:c.C301T:p.P101S . . 0.5603448 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.055 . @ . . . . . 1 0.082 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P101S|OR51S1|mRNA|CODING|NM_001004758|NM_001004758.ex.1) 0.0005 0.0012 0.0016 0.0005 0.0012 0.0016 . -1.0548 -0.957 -1.055 c . . . . . 9.471e-04 . . . 0.0004 0.0011 0.0011 0 0 0.0019 0.0014 0 0.0004 0.0009 0.0012 0 0 0.0015 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.091 0.0004 . . . 0.14 0.1 182 ENSG00000176922 OR51S1 OR51S1 . . . 0.000 0.029 . 141 0.00217003 64976 139 0.00231721 59986 Uncertain_significance . 0 . 0.268 . . . . T 0.034 0.002 . . 37 . 0.082 . . 0.254 . . . 0.030 0.380 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.112 . . 0.112 . . . . . . 0 0.010 . . . . . 0.011 . 0.114 . HET 0.92 rs146829053 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 0.8411 5.35E-4 ENST00000322101 IV.65 -1.18 . 1.000000 Q8NGJ8 . . . 0.001231 . 0.039 . . . 0.0003 0.0010 0.0011 0.0007 0 0 0.0017 0.0022 0 0.0006 0.0009 0 0 0 0 0.0015 0 . . 0.212 . 0.120 0.120000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.448 0.187 . 0.085 . 0.551 0.120 0.069 0.0016 . . rs146829053 rs146829053 1 1538 10 1/0 0,255,255 +rs113743709 11 5013424 T G - MMP26 14249 Matrix metallopeptidase 26 NM_021801.4 1 994 786 NP_068573.2 Q9NRE1 substitution intron GRCh37 5013424 5013424 Chr11(GRCh37):g.5013424T>G 758-20 758-20 NM_021801.4:c.758-20T>G p.? p.? 6 5 605470 -20 3' 86.3878 XI.62 0.9951 9.61108 86.3878 X.63 0.994943 9.31677 -0.0223559 rs113743709 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000800 0.000000 0.000000 0.002000 0.001400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 130214 8336 24416 4392 14694 15708 50370 9630 2668 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 120 Exomes transversion T G T>G 0.000 0.044 176 PASS . . . . . 0.0008 0.0008 0.0014 . 0.002 . . . . . . 0.10638298 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||MMP26|mRNA|CODING|NM_021801|) . . . . . . . -0.2381 . . . . . . . . 6.746e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.25 0.04 182 ENSG00000167346 MMP26 MMP26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs113743709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs113743709 rs113743709 1 1538 10 1/0 0,255,255 +rs143181883 11 5153175 T C - OR52A5 19580 Olfactory receptor, family 52, subfamily A, member 5 NM_001005160.2 -1 951 951 NP_001005160.1 Q9H2C5 substitution missense exon GRCh37 5153175 5153175 Chr11(GRCh37):g.5153175T>C 698 698 NM_001005160.2:c.698A>G p.Gln233Arg p.Gln233Arg 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs143181883 yes no Frequency 1 T 0.000000 0 0.000722 0.000000 0.000116 0.000000 0.000000 0.000000 0.001392 0.000659 0.000464 0.001392 200 0 4 0 0 0 176 17 3 276888 24028 34412 10140 18866 30780 126406 25792 6464 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 196 0 4 0 0 0 172 17 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4402 12988 10 0 10 0.00116333 0 0.000769349 0.00116333 0 0.000769349 90 transition A G A>G 0.992 2.304 Q Gln CAG 0.744 R Arg CGG 0.207 233 10 9 Armadillo 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 29.27 42.81 Deleterious 0.02 IV.32 bad 6.096E-3 0.0002051 255 PASS . . . . . . . . . . . ENSG00000171944:ENST00000307388:exon1:c.A698G:p.Q233R OR52A5:uc010qyx.2:exon1:c.A698G:p.Q233R OR52A5:NM_001005160:exon1:c.A698G:p.Q233R . . 0.530303 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.312 . @ . . . . . 1 0.401 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q233R|OR52A5|mRNA|CODING|NM_001005160|NM_001005160.ex.1) . 0.0008 0.0012 . 0.0008 0.0012 . -0.3703 -0.325 -0.370 c . . . . . 8.208e-04 . . . 0 0.0007 0.0002 0 0.0003 0.0014 0 0 0 0.0007 0.0002 0 0.0003 0.0013 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.001 . . exonic exonic exonic . . 0.685 @ . . . 0.42 0.64 182 ENSG00000171944 OR52A5 OR52A5 . . . 1.0 0.983 . 27 0.000415538 64976 27 0.000450105 59986 Uncertain_significance . 0 . 0.308 . . . . T 0.064 0.003 . . 37 . 0.002 . . 0.260 . . . 0.510 0.281 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.156 . . 0.257 . . . . . . 0 0.632 . . . . . 0.628 . 0.270 . HET 0 rs143181883 . . . . . . . . . . . . 13.8388 0.0 ENST00000307388 5.IX 5.IX . 0.000000 Q9H2C5 . . . 0.000769 . 0.230 . . 5.IX 0 0.0007 0.0001 0 0 0.0008 0.0013 0.0005 0 0 0.0010 0 0 0 0 0.0020 0 . . 0.133 . 2.132 2.132000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.562 0.018 . 0.223 . 0.807 2.132 -0.013 0.0012 . . rs143181883 rs143181883 1 1538 10 1/0 0,255,255 +rs5009539 11 5269583 G A - HBG1 4831 Hemoglobin subunit gamma 1 NM_000559.2 -1 584 444 NP_000550.2 P69891 substitution 3'UTR GRCh37 5269583 5269583 Chr11(GRCh37):g.5269583G>A *6 *6 NM_000559.2:c.*6C>T p.? p.? 3 142200 135 3' 83.9751 9.94972 0.975946 IX.28 83.9751 9.94972 0.975946 IX.28 0 rs5009539 yes no Frequency/1000G 2 G 0.000000 0 0.477436 0.497000 0.473400 0.473200 0.458300 0.479800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 232078 14582 31600 9030 16378 28740 105290 21332 5126 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 137 Exomes transition C T C>T 0.000 -1.974 255 PASS . . . . . 0.5 0.48 0.48 0.47 0.46 0.47 . . . . . 0.50442475 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.4775 . . . . . . . . . . . . 0 0.0003 0 0 0 0.0005 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.4774 . . . 0.57 0.8 182 ENSG00000213934 . HBG1 ENST00000330597:c.*6C>T uc001mah.1:c.*6C>T\x3buc001mai.1:c.*6C>T NM_000559:c.*6C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs5009539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76701119 rs76701119 1 1538 10 1/0 0,252,255 +. 11 5269584 T G - HBG1 4831 Hemoglobin subunit gamma 1 NM_000559.2 -1 584 444 NP_000550.2 P69891 substitution 3'UTR GRCh37 5269584 5269584 Chr11(GRCh37):g.5269584T>G *5 *5 NM_000559.2:c.*5A>C p.? p.? 3 142200 134 3' 83.9751 9.94972 0.975946 IX.28 83.9751 9.94972 0.975946 IX.28 0 Cryptic Acceptor Strongly Activated 5269568 2.70978 0.01113 73.4763 IV.06 0.043808 73.4763 rs1065686 yes no Frequency/1000G 2 G 0.000000 0 0.718450 0.719400 0.697300 0.799600 0.668000 0.701700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 232944 14494 31742 9096 16486 28916 105624 21442 5144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 137 Exomes transversion A C A>C 0.000 -0.521 255 PASS . . . . . 0.72 0.72 0.7 0.8 0.67 0.7 . . . . . 0.5132743 . . . 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 113.0 . . . . . . . . . . -0.1560 . . . . . . . . 7.948e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.58 0.76 182 ENSG00000213934 . HBG1 ENST00000330597:c.*5A>C uc001mah.1:c.*5A>C\x3buc001mai.1:c.*5A>C NM_000559:c.*5A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1065686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs1065686 rs1065686 1 1538 10 1/0 0,253,255 +rs61893083 11 5269585 G A - HBG1 4831 Hemoglobin subunit gamma 1 NM_000559.2 -1 584 444 NP_000550.2 P69891 substitution 3'UTR GRCh37 5269585 5269585 Chr11(GRCh37):g.5269585G>A *4 *4 NM_000559.2:c.*4C>T p.? p.? 3 142200 133 3' 83.9751 9.94972 0.975946 IX.28 83.9751 9.94972 0.975946 IX.28 0 Cryptic Acceptor Strongly Activated 5269568 2.70978 0.01113 73.4763 3.22159 0.03068 73.4763 rs61893083 yes no Frequency/1000G 2 G 0.000000 0 0.718450 0.719400 0.697300 0.799600 0.668000 0.701700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11018 440 1042 362 190 1174 5544 2086 180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 2900 Exomes transition C T C>T 0.000 -0.279 255 PASS . . . . . 0.72 0.72 0.7 0.8 0.67 0.7 . . . . . 0.49565217 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 115.0 . . . . . . . . . . -1.0225 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.2815 . . . 0.6 0.76 182 ENSG00000213934 . HBG1 ENST00000330597:c.*4C>T uc001mah.1:c.*4C>T\x3buc001mai.1:c.*4C>T NM_000559:c.*4C>T . . . 38613 0.594266 64976 36113 0.602024 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs61893083 . . . . . . . . . . . . IV.23 . ENST00000380256 2.V 0.488 . 0.000000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -0.340 -0.340000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -0.340 . . rs61893083 rs61893083 rs61893083 rs61893083 1 1538 10 1/0 0,251,255 +rs62755960 11 5269586 A G - HBG1 4831 Hemoglobin subunit gamma 1 NM_000559.2 -1 584 444 NP_000550.2 P69891 substitution 3'UTR GRCh37 5269586 5269586 Chr11(GRCh37):g.5269586A>G *3 *3 NM_000559.2:c.*3T>C p.? p.? 3 142200 132 3' 83.9751 9.94972 0.975946 IX.28 83.9751 9.94972 0.975946 IX.28 0 rs62755960 yes no Frequency/1000G 2 G 0.000000 0 0.718450 0.719400 0.697300 0.799600 0.668000 0.701700 transition T C T>C 0.000 -1.570 255 PASS . . . . . 0.72 0.72 0.7 0.8 0.67 0.7 . . . . . 0.49107143 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . -1.0313 . . . . . . . . 3.180e-05 . . . 0 1.13e-05 0 0 0 2.447e-05 0 0 0 9.641e-06 0 0 0 1.889e-05 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.2815 . . . 0.49 0.77 182 ENSG00000213934 . HBG1 ENST00000330597:c.*3T>C uc001mah.1:c.*3T>C\x3buc001mai.1:c.*3T>C NM_000559:c.*3T>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs62755960 . . . . . . . . . . . . II.68 . ENST00000380256 II.59 -4.15 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.175 -1.175000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -1.175 . . rs62755960 rs62755960 rs62755960 rs62755960 1 1538 10 1/0 0,252,255 +rs145231699 11 5364030 T C - OR51B5 19599 Olfactory receptor, family 51, subfamily B, member 5 NM_001005567.1 -1 939 939 NP_001005567.1 Q9H339 substitution missense exon GRCh37 5364030 5364030 Chr11(GRCh37):g.5364030T>C 725 725 NM_001005567.1:c.725A>G p.His242Arg p.His242Arg 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) Olfactory receptor GPCR, rhodopsin-like superfamily rs145231699 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.003717 0.000292 0.000670 0.008547 0.000000 0.000000 0.004971 0.009924 0.004503 0.009924 1025 7 23 86 0 0 625 255 29 275728 24010 34320 10062 18848 30620 125732 25696 6440 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 1021 7 23 86 0 0 621 255 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8572 4401 12973 22 1 23 0.00255993 0.000227169 0.00176978 0.00255993 0.000227169 0.00176978 115 transition A G A>G 1.000 4.483 H His CAT 0.413 R Arg CGT 0.082 242 11 11 Platypus 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C25 0.00 28.82 Deleterious 0 III.73 bad 1.627E-5 9.497E-5 255 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0014 . 0.006 . ENSG00000242180:ENST00000300773:exon1:c.A725G:p.H242R . OR51B5:NM_001005567:exon5:c.A725G:p.H242R . . 0.47435898 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.655 . @ . . . . . 1 0.851 . . 78.0 . . . 0.0002 0.0018 0.0026 0.0002 0.0018 0.0026 . 0.7473 0.655 0.747 c . . . . . 3.378e-03 . . . 9.686e-05 0.0026 0.0007 0 0.0110 0.0043 0.0042 0 0.0001 0.0030 0.0007 0 0.0091 0.0044 0.0072 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.003 . . exonic exonic exonic . . 0.603 0.0014 . . . 0.31 0.33 182 ENSG00000242180 OR51B5 OR51B5 . . . 1.000 0.747 . 225 0.00346282 64976 218 0.00363418 59986 Uncertain_significance . 0 . 0.422 . . . . T 0.192 0.007 . . 37 . 0.006 . . 0.537 . . . 0.996 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.960 . . 0 0 0 0 0 0 . 0.541 . . 0.595 . . . . . . 1 0.614 . . . . . 0.596 . 0.931 . HET 0.01 rs145231699 . . . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 13.3051 2.68E-4 ENST00000300773 IV.77 IV.77 . 0.000000 Q9H339 . . . 0.001770 . 0.829 . . IV.77 6.542e-05 0.0033 0.0007 0.0085 0 0.0098 0.0041 0.0038 0 0.0007 0.0072 0 0.0099 0 0.0109 0.0113 0.0081 . . 0.133 . 2.019 2.019000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.750 0.972 . 0.625 . 0.759 2.019 0.991 0.01 . . rs145231699 rs145231699 1 1538 10 1/0 0,255,255 +rs369178118 11 6584902 C T - DNHD1 26532 Dynein heavy chain domain 1 NM_144666.2 1 14865 14262 NP_653267.2 Q96M86 substitution intron GRCh37 6584902 6584902 Chr11(GRCh37):g.6584902C>T 9853-21 9853-21 NM_144666.2:c.9853-21C>T p.? p.? 31 30 617277 -21 3' 85.3906 6.08434 0.632436 3.94907 85.3906 6.08434 0.581953 4.32319 -0.0266077 rs369178118 yes no Frequency 1 C 0.000000 0 0.000465 0.000123 0.000162 0.000000 0.000000 0.000221 0.000943 0.000000 0.000633 0.000943 81 2 4 0 0 5 67 0 3 174346 16296 24684 8348 11814 22624 71070 14770 4740 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 81 2 4 0 0 5 67 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3180 1384 4564 2 0 2 0.000628536 0 0.00043802 0.000628536 0 0.00043802 108 transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.53521127 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . INTRON(MODIFIER||||DNHD1|mRNA|CODING|NM_144666|) . 0.0004 0.0006 . 0.0004 0.0006 . 0.5255 . . . . . . . . 4.152e-04 . . . 0 0.0005 0 0 0 0.0010 0 0.0003 0 0.0002 0 0 0 0.0002 0 0.0003 . . . . . . intronic UTR3 intronic . . . @ . . . 0.35 0.2 182 ENSG00000179532 DNHD1 DNHD1 . uc001mdx.1:c.*75C>T . . . . 41 0.000631002 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369178118 . . . . . . . . . . . . . . . . . . . . . . . 0.000438 . . . . . 0.0001 0.0005 0.0001 0 0 0 0.0010 0.0005 0.0002 0.0001 0.0004 0.0012 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs369178118 rs369178118 1 1538 10 1/0 0,246,255 +rs150797879 11 6891682 C T - OR10A2 8161 Olfactory receptor, family 10, subfamily A, member 2 NM_001004460.1 1 912 912 NP_001004460.1 Q9H208 substitution missense exon GRCh37 6891682 6891682 Chr11(GRCh37):g.6891682C>T 697 697 NM_001004460.1:c.697C>T p.Leu233Phe p.Leu233Phe 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs150797879 yes no Frequency 1 0.000000 0 0.000599 0.000250 0.000000 0.000000 0.000000 0.001234 0.000931 0.000000 0.000619 0.001234 166 6 0 0 0 38 118 0 4 277224 24038 34420 10152 18870 30782 126708 25790 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 164 6 0 0 0 38 116 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4399 12983 8 3 11 0.000931099 0.000681508 0.000846545 0.000931099 0.000681508 0.000846545 232 transition C T C>T 0.827 0.286 L Leu CTT 0.129 F Phe TTT 0.454 233 10 8 Armadillo 1 0 0 0 0 4.IX 5.II 111 132 22 C0 30.92 21.28 Deleterious 0.04 IV.32 good 5.07E-2 0.0006517 255 PASS . . . . . . . . . . . ENSG00000170790:ENST00000307322:exon1:c.C697T:p.L233F OR10A2:uc001meu.1:exon1:c.C697T:p.L233F OR10A2:NM_001004460:exon1:c.C697T:p.L233F . . 0.3490566 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.602 . @ . . . . . 1 0.939 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L233F|OR10A2|mRNA|CODING|NM_001004460|NM_001004460.ex.1) 0.0007 0.0008 0.0009 0.0007 0.0008 0.0009 . -0.0570 -0.154 -0.057 c . . . . . 5.840e-04 . . . 0.0004 0.0006 0 0 0 0.0008 0 0.0011 0.0004 0.0006 0 0 0 0.0007 0 0.0011 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.392 . . exonic exonic exonic . . 0.362 @ . . . 0.25 0.18 182 ENSG00000170790 OR10A2 OR10A2 . . . 0.000 0.038 . 47 0.000723344 64976 47 0.000783516 59986 Uncertain_significance . 0 . 0.523 . . . . T 0.248 0.009 . . 37 . 0.429 . . 0.265 . . . 0.336 0.270 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.529 . . 0 0 0 0 0 0 . 0.484 . . 0.561 . . . . . . 0 0.632 . . . . . 0.267 . 0.344 . HET 0.02 rs150797879 . . . . . . . . . . . . VII.85 8.03E-4 ENST00000307322 IV.18 III.25 . 0.010000 Q9H208 . . . 0.000847 . 0.179 . . III.25 0.0003 0.0006 0 0 0 0 0.0010 0.0007 0.0012 0.0001 0.0004 0 0 0 0 0.0007 0 . . 0.246 . 1.102 1.102000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.325 0.823 . 0.061 . 0.143 1.102 -0.823 0.0009 . . rs150797879 rs150797879 1 1538 10 1/0 0,246,255 +. 11 8970115 T TA - TMEM9B 1168 TMEM9 domain family, member B NM_020644.2 -1 2176 597 NP_065695.1 Q9NQ34 duplication intron GRCh37 8970115 8970116 Chr11(GRCh37):g.8970116dup 442-94 442-94 NM_020644.2:c.442-94dup p.? p.? 5 4 -93 3' 79.4898 6.63988 0.473648 7.84929 79.4898 6.63988 0.473648 7.84929 0 rs538569146 yes no Frequency 1 0.000000 0 0.005557 0.001261 0.002387 0.000000 0.000000 0.000000 0.008402 0.007155 0.008180 0.008402 172 11 2 0 0 0 126 25 8 30950 8722 838 302 1620 0 14996 3494 978 0.011628 0.000000 0.000000 0.000000 0.000000 0.000000 0.015873 0.000000 0.000000 2 0 0 0 0 0 2 0 0 168 11 2 0 0 0 122 25 8 0 0 0 0 0 0 0 0 0 PASS 42 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.45614034 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000175348 TMEM9B TMEM9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs538569146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0056 0.0024 0 0 0.0072 0.0084 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +rs367801509 11 9608440 A T - WEE1 12761 WEE1 homolog (S. pombe) NM_003390.3 1 3359 1941 NP_003381.1 P30291 substitution intron GRCh37 9608440 9608440 Chr11(GRCh37):g.9608440A>T 1787+37 1787+37 NM_003390.3:c.1787+37A>T p.? p.? 10 10 193525 37 5' 87.5573 9.72159 0.982188 4.83174 87.5573 9.72159 0.982188 5.01176 0 rs367801509 yes no Frequency 1 A 0.000000 0 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000068 7 0 0 0 0 0 7 0 0 222874 21998 24130 7198 15982 22014 102690 23642 5220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8559 4354 12913 1 0 1 0.000116822 0 7.74353e-05 0.000116822 0 7.74353e-05 16 transversion A T A>T 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.4375 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.2585 . . . . . . . . 2.377e-05 . . . 0 4.278e-05 0 0 0 9.282e-05 0 0 0 3.769e-05 0 0 0 7.593e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.1 182 ENSG00000166483 WEE1 WEE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367801509 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 3.126e-05 0 0 0 0 6.841e-05 0 0 0 3.233e-05 0 0 0 0 6.673e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs367801509 rs367801509 1 1538 10 1/0 0,255,255 +rs551096082 11 16812214 C T - PLEKHA7 27049 Pleckstrin homology domain containing A7 NM_001329630.1 -1 5532 3816 NP_001316559.1 substitution intron GRCh37 16812214 16812214 Chr11(GRCh37):g.16812214C>T 3052+131 3052+131 NM_001329630.1:c.3052+131G>A p.? p.? 21 21 612686 131 5' 91.9265 X.44 0.997149 X.26 91.9265 X.44 0.997149 X.26 0 rs551096082 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002783 0.000230 0.000000 0.000000 0.000000 0.000000 0.004009 0.005438 0.005102 0.005438 86 2 0 0 0 0 60 19 5 30906 8704 838 302 1620 0 14968 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 2 0 0 0 0 60 19 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.7777778 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . INTRON(MODIFIER||||PLEKHA7|mRNA|CODING|NM_175058|) . . . . . . . 0.0069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000166689 PLEKHA7 PLEKHA7 . . . . . . 73 0.00112349 64976 72 0.00120028 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs551096082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0028 0 0 0 0.0054 0.0040 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs567187477 11 17533664 C T - USH1C 12597 USH1 protein network component harmonin NM_153676.3 -1 3246 2700 NP_710142.1 substitution intron GRCh37 17533664 17533664 Chr11(GRCh37):g.17533664C>T 1261-63 1261-63 NM_153676.3:c.1261-63G>A p.? p.? 16 15 605242 -63 3' 72.9636 3.02016 0.018605 0 72.9636 3.02016 0.018605 0 0 rs567187477 yes no Frequency/1000G 2 C 0.000200 T 1 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001744 0.000229 0.000000 0.000000 0.000617 0.000000 0.003134 0.000000 0.004073 0.003134 54 2 0 0 1 0 47 0 4 30964 8730 838 302 1622 0 14996 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 2 0 0 1 0 47 0 4 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 1.000 2.465 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.65217394 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 1.1234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000006611 USH1C USH1C . . . . . . 35 0.00053866 64976 34 0.000566799 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs567187477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.98 . . . . . . . . . 0.0002 0.0017 0 0 0.0006 0 0.0031 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs56271762 11 17659907 G C - OTOG 8516 Otogelin NM_001277269.1 1 8778 8778 NP_001264198.1 Q6ZRI0 substitution intron GRCh37 17659907 17659907 Chr11(GRCh37):g.17659907G>C 7832-91 7832-91 NM_001277269.1:c.7832-91G>C p.? p.? 47 46 604487 -91 3' 79.7869 XII.26 0.960972 15.4307 79.7869 XII.26 0.960972 15.4307 0 rs56271762 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000000 0.000000 0.001000 0.011900 0.007200 0.007891 0.002638 0.013189 0.046358 0.000617 0.000000 0.011822 0.001718 0.012220 0.046358 244 23 11 14 1 0 177 6 12 30922 8720 834 302 1620 0 14972 3492 982 0.016393 0.000000 0.000000 0.000000 0.000000 0.000000 0.016949 0.000000 0.083333 4 0 0 0 0 0 3 0 1 236 23 11 14 1 0 171 6 10 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G C G>C 0.000 0.205 255 PASS . 0.0046 0.01 . 0.01 . 0.0036 0.0072 0.001 0.012 . . . . . . 0.4090909 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . . . . . . . . 0.0095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.42 0.41 182 ENSG00000188162 OTOG OTOG . . . . . . 898 0.0138205 64976 878 0.0146367 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56271762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0079 0.0132 0.0464 0.0006 0.0017 0.0118 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs56271762 rs56271762 rs56271762 rs56271762 1 1538 10 1/0 0,246,255 +rs151115079 11 18655741 T C - SPTY2D1 26818 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) NM_194285.2 -1 5734 2058 NP_919261.2 Q68D10 substitution splice site GRCh37 18655741 18655741 Chr11(GRCh37):g.18655741T>C 60+4 60+4 NM_194285.2:c.60+4A>G p.? p.? 1 1 4 5' 91.0858 X.17 0.997227 X.03 81.0051 9.39397 0.94233 VIII.34 -0.101603 New Acceptor Site 18655740 5.84041 0.062586 68.2735 rs151115079 yes no Frequency/1000G 2 T 0.000000 0 0.002396 0.000800 0.001000 0.000000 0.006000 0.005800 0.004118 0.001206 0.004648 0.004731 0.000106 0.003963 0.005719 0.000853 0.005262 0.005719 1141 29 160 48 2 122 724 22 34 277096 24038 34420 10146 18870 30782 126586 25792 6462 0.000036 0.000000 0.000058 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 5 0 1 0 0 0 4 0 0 1131 29 158 48 2 122 716 22 34 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4390 12932 44 8 52 0.00512462 0.00181901 0.00400493 0.00512462 0.00181901 0.00400493 186 transition A G A>G 1.000 2.707 255 PASS . 0.0032 0.01 . 0.01 0.0008 0.0024 0.0058 . 0.006 0.001 . . . . . 0.448 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 125.0 . . INTRON(MODIFIER||||SPTY2D1|mRNA|CODING|NM_194285|) 0.0018 0.004 0.0051 0.0018 0.004 0.0051 . II.30 . . . . . . . . 4.301e-03 . . . 0.0014 0.0051 0.0054 0 0.0013 0.0073 0.0084 0.0041 0.0015 0.0044 0.0054 0 0.0014 0.0057 0.0058 0.0041 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.48 0.53 182 ENSG00000179119 SPTY2D1 SPTY2D1 . . . . . . 352 0.00541738 64976 340 0.00566799 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151115079 . . . . . . . . . . . . . . . . . . . . 0.9998 0.888 . 0.004005 . . . . V.61 0.0016 0.0043 0.0045 0.0049 5.798e-05 0.0008 0.0058 0.0060 0.0040 0.0006 0.0030 0.0107 0 0.0006 0.0011 0.0049 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151115079 rs151115079 1 1538 10 1/0 0,245,255 +rs56234898 11 18765648 A G - PTPN5 9657 Protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) NM_006906.1 -1 3135 1698 NP_008837.1 P54829 substitution missense exon GRCh37 18765648 18765648 Chr11(GRCh37):g.18765648A>G 196 196 NM_006906.1:c.196T>C p.Ser66Pro p.Ser66Pro 4 176879 -96 5' 86.4701 9.67503 0.996643 X.54 86.4701 9.67503 0.996643 X.54 0 Protein-tyrosine phosphatase, receptor type R/non-receptor type 5 rs56234898 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.000000 0.000000 0.000000 0.009900 0.010100 0.008018 0.002138 0.002463 0.001591 0.000000 0.002753 0.012992 0.011769 0.006119 0.012992 2186 51 83 16 0 84 1611 302 39 272630 23852 33696 10056 18482 30514 123996 25660 6374 0.000125 0.000000 0.000000 0.000000 0.000000 0.000066 0.000226 0.000156 0.000000 17 0 0 0 0 1 14 2 0 2152 51 83 16 0 82 1583 298 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8475 4384 12859 111 14 125 0.012928 0.00318327 0.00962723 0.012928 0.00318327 0.00962723 109 CM162372 Post burn hypertrophic scarring, decreased severity, association with 26872063 DP COSM4792999|COSM4792999 Liver|Bone 0.000844|0.001757 2371|569 transition T C T>C 0.677 -0.117 S Ser TCA 0.148 P Pro CCA 0.274 66 12 6 Zebrafish -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.2 III.37 bad 2.348E-5 0.0001282 255 PASS . 0.01 0.01 . 0.01 . 0.0034 0.01 . 0.0099 . . . . . . 0.55172414 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.309 . @ . . . . . 1 0.391 . . 87.0 . . . 0.0032 0.0096 0.013 0.0032 0.0096 0.013 . -0.5901 -0.492 -0.590 c . . . . . 7.300e-03 . . . 0.0024 0.0063 0.0016 0 0.0095 0.0107 0.0056 0.0024 0.0024 0.0070 0.0014 0 0.0100 0.0108 0.0101 0.0024 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.057 . . exonic exonic exonic . . 0.098 0.0034 . . . 0.31 0.34 182 ENSG00000110786 PTPN5 PTPN5 . . . 0.002 0.094 . 754 0.0116043 64976 737 0.0122862 59986 Likely_benign . 0 . 0.144 . . . . . . . . . 37 . 0.023 . . 0.396 . . . 0.170 0.251 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.270 . . 0 0 0 0 1 0 . 0.067 . . 0.040 . . . . . . 0 0.155 . . . . . 0.004 . 0.101 . HET 0.11 rs56234898 . . . . . . . 0.005952380952380952 0.0 0.011049723756906077 0.0 0.011873350923482849 0.4364 0.00321 . IV.66 -0.957 . 0.060000 . . . . 0.009627 . 0.316 . . . 0.0020 0.0078 0.0025 0.0016 0 0.0118 0.0128 0.0048 0.0028 0.0023 0.0095 0.0024 0 0 0.0117 0.0145 0.0133 . . 0.609 . -0.033 -0.033000 . . 0.060000 . . 1.0E-255 0.988 0.363 . 0.697 0.722 . 0.273 . 0.627 -0.033 0.591 0.013 rs56234898 rs56234898 rs56234898 rs56234898 1 1538 10 1/0 0,255,255 +rs747887493 11 20409574 G A - PRMT3 30163 Protein arginine methyltransferase 3 NM_005788.3 1 2733 1596 NP_005779.1 O60678 substitution missense exon GRCh37 20409574 20409574 Chr11(GRCh37):g.20409574G>A 38 38 NM_005788.3:c.38G>A p.Gly13Asp p.Gly13Asp 2 603190 10 3' 75.0292 VII.11 0.796487 5.41762 75.0292 VII.11 0.806051 5.75378 0.00400258 rs747887493 yes no Frequency 1 G 0.000000 0 0.000029 0.000042 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 0.000056 8 1 0 0 0 0 7 0 0 276094 23896 34380 10134 18844 30778 125958 25668 6436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.984 0.205 G Gly GGC 0.342 D Asp GAC 0.539 13 11 3 Dog -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 353.86 0.00 Tolerated 0.62 III.48 good 8.242E-1 0.6342 255 PASS . . . . . . . . . . . ENSG00000185238:ENST00000331079:exon2:c.G38A:p.G13D PRMT3:uc001mqb.3:exon2:c.G38A:p.G13D PRMT3:NM_005788:exon2:c.G38A:p.G13D . . 0.5443038 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.551 . @ . . . . . 1 0.540 . . 237.0 . . . . . . . . . . -0.3417 -0.190 -0.342 c . . . . . 1.579e-05 . . . 0 2.269e-05 0 0 0 4.943e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.258 . . exonic exonic exonic . . 0.208 @ . . . . . . ENSG00000185238 PRMT3 PRMT3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.167 0.006 . . 37 . 0.158 . . 0.080 . . . 0.065 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.125 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 6 0.538 . . . . . 0.208 . 0.266 . HET 0.05 rs747887493 . . . . . . . . . . . . VI.05 . . V.68 I.32 . 0.020000 O60678 . . . . . 0.248 . . . 6.589e-05 2.448e-05 0 0 0 0 4.506e-05 0 0 0 6.462e-05 0 0 0 0 0.0001 0 . . 0.091 . 0.720 0.720000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.385 0.165 . 0.384 . 0.713 0.720 0.917 . . . . . 1 1538 10 1/0 0,224,236 +rs61879341 11 22214877 A G - ANO5 27337 Anoctamin 5 NM_213599.2 1 6661 2742 NP_998764.1 Q75V66 substitution 5'UTR GRCh37 22214877 22214877 Chr11(GRCh37):g.22214877A>G -162 -162 NM_213599.2:c.-162A>G p.? p.? 1 608662 -202 5' 84.2838 9.45172 0.889994 8.59004 84.2838 9.45172 0.889994 8.59004 0 rs61879341 yes no Frequency/1000G 2 A uncertain_significance,not_provided 0.000000 0 RCV000128764.1|RCV000359816.1|RCV000298067.1 unknown|germline|germline not provided|clinical testing|clinical testing Not provided|VUS|VUS 0|1|1 not provided|Miyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive transition A G A>G 0.000 -0.521 250 PASS . . . . . . . . . . . . . . . . 0.30769232 . . germline 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . not//\@provided//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance not_provided|Uncertain_significance|Uncertain_significance RCV000128764.1|RCV000298067.1|RCV000359816.1 . MedGen|MedGen|MedGen CN221809|CN239352|CN230453 2 . . . 65.0 . . . . . . . . . . 0.1578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.44 0.44 182 ENSG00000171714 ANO5 ANO5 ENST00000324559:c.-162A>G . . . . . 2549 0.0392299 64976 1965 0.0327576 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61879341 0.011 0.007 . CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000128764.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000128764.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000128764.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.011 rs61879341 rs61879341 rs61879341 . 1 1538 10 1/0 0,255,255 +. 11 22214877 A AAGGAGGAGGGGAATGAGGAGGAGG - ANO5 27337 Anoctamin 5 NM_213599.2 1 6661 2742 NP_998764.1 Q75V66 insertion 5'UTR GRCh37 22214883 22214884 Chr11(GRCh37):g.22214883_22214884insAGGGGAATGAGGAGGAGGAGGAGG -156 -155 NM_213599.2:c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG p.? p.? 1 608662 -195 5' 84.2838 9.45172 0.889994 8.59004 84.2838 9.45172 0.889994 8.59004 0 rs139514865 yes no Frequency/1000G 2 0.000000 0 0.781350 0.934900 0.806700 0.582300 0.791300 0.727700 RCV000337912.1|RCV000408082.1 germline|germline clinical testing|clinical testing Benign|Benign 1|1 Miyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive AGGGGAATGAGGAGGAGGAGGAGG 255 Pass . . . . . . . . . . . . . . . . 0.2 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Benign|Benign RCV000337912.1|RCV000408082.1 . MedGen|MedGen CN230453|CN239352 2 . . . 60 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000171714 ANO5 ANO5 ENST00000324559:c.-162_-161insAGGAGGAGGGGAATGAGGAGGAGG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139514865 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs139514865 rs139514865 1 1538 10 1.I 0,8,70 +. 11 22387136 T C - SLC17A6 16703 Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 NM_020346.2 1 3925 1749 NP_065079.1 Q9P2U8 substitution synonymous exon GRCh37 22387136 22387136 Chr11(GRCh37):g.22387136T>C 792 792 NM_020346.2:c.792T>C p.Ser264= p.Ser264Ser 7 607563 44 3' 88.589 7.53585 0.625965 3.93321 88.589 7.53585 0.625965 4.24367 0 Major facilitator superfamily Major facilitator superfamily domain transition T C T>C 0.992 -0.037 S Ser TCT 0.185 S Ser TCC 0.220 264 255 PASS . . . . . . . . . . . ENSG00000091664:ENST00000263160:exon7:c.T792C:p.S264S SLC17A6:uc001mqk.3:exon7:c.T792C:p.S264S SLC17A6:NM_020346:exon7:c.T792C:p.S264S . . 0.4765625 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S264|SLC17A6|mRNA|CODING|NM_020346|NM_020346.ex.7) . . . . . . . I.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000091664 SLC17A6 SLC17A6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs2447997 (chr11:27390089 T/C) 11 27390089 T C Transcript NM_018490.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) LGR4 +rs201333718 11 31561287 T C - ELP4 1171 Elongator acetyltransferase complex subunit 4 NM_001288726.1 1 2760 1608 NP_001275655.1 substitution missense exon GRCh37 31561287 31561287 Chr11(GRCh37):g.31561287T>C 338 338 NM_001288726.1:c.338T>C p.Leu113Ser p.Leu113Ser 3 606985 -44 5' 72.656 8.72697 0.616197 0 72.656 8.72697 0.616197 0 0 rs201333718 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.000000 0.016400 0.000000 0.003000 0.001400 0.004646 0.000708 0.002098 0.003057 0.000000 0.015625 0.004915 0.001668 0.003598 0.015625 1282 17 71 31 0 475 622 43 23 275928 23998 33836 10142 18834 30400 126548 25778 6392 0.000043 0.000000 0.000000 0.000000 0.000000 0.000197 0.000047 0.000000 0.000000 6 0 0 0 0 3 3 0 0 1270 17 71 31 0 469 616 43 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8125 3635 11760 33 1 34 0.00404511 0.000275028 0.00288282 0.00404511 0.000275028 0.00288282 165 transition T C T>C 1.000 2.950 L Leu TTG 0.127 S Ser TCG 0.056 113 12 7 Tetraodon -3 -2 -4 0 I.42 4.IX 9.II 111 32 145 C0 235.27 53.41 Deleterious 0.01 3.XI 255 PASS . 0.0009 . . 0.0026 . 0.004 0.0014 . 0.003 0.016 . . . . . 0.375 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.503 . @ . . . . . 1 0.776 . . 32.0 . . . 0.0003 0.0029 0.004 0.0003 0.0029 0.004 . 0.3807 0.372 0.381 c . . . . . 4.938e-03 . . . 0.0005 0.0055 0.0020 0 0.0013 0.0049 0.0028 0.0153 0.0005 0.0049 0.0021 0 0.0017 0.0041 0.0029 0.0153 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.517 . . exonic exonic exonic . . 0.485 0.0040 . . . 0.45 0.39 182 ENSG00000109911 ELP4 ELP4 . . . 0.177 0.178 . 192 0.00295494 64976 172 0.00286734 59986 Uncertain_significance . 0 . 0.477 . . . . . . . . . 37 . 0.591 . . 0.626 . . . 0.670 0.468 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.745 . . 0 0 0 0 0 0 . 0.478 . . 0.532 . . . . . . 0 0.784 . . . . . 0.459 . 0.874 . HET 0 rs201333718 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 X.49 3.41E-4 . V.32 IV.19 . 0.010000 . . . . 0.002883 . 0.519 . . IV.19 0.0006 0.0047 0.0021 0.0028 0 0.0015 0.0048 0.0033 0.0156 0.0009 0.0038 0.0024 0.0099 0 0.0026 0.0061 0.0051 . . 0.609 . 0.961 0.961000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.544 1.000 . 0.589 . 0.635 0.961 0.991 0.004 . . rs201333718 rs201333718 1 1538 10 1/0 0,255,255 +rs75979055 11 33053036 A G - DEPDC7 29899 DEP domain containing 7 NM_001077242.1 1 1755 1536 NP_001070710.1 Q96QD5 substitution missense exon GRCh37 33053036 33053036 Chr11(GRCh37):g.33053036A>G 895 895 NM_001077242.1:c.895A>G p.Lys299Glu p.Lys299Glu 5 612294 -100 5' 95.872 9.66448 0.996526 1.76237 95.872 9.66448 0.996526 1.76237 0 rs75979055 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.002000 0.001400 0.002396 0.000833 0.002063 0.000296 0.000000 0.000162 0.004152 0.000931 0.002322 0.004152 664 20 71 3 0 5 526 24 15 277172 24016 34420 10150 18868 30782 126684 25792 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 664 20 71 3 0 5 526 24 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8178 3721 11899 22 3 25 0.00268293 0.000805585 0.00209661 0.00268293 0.000805585 0.00209661 112 transition A G A>G 1.000 3.030 K Lys AAA 0.425 E Glu GAA 0.417 299 14 13 Tetraodon 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C15 26.00 44.00 Deleterious 0.01 III.57 bad 7.294E-5 8.66E-5 255 PASS . 0.0009 . . 0.0026 . 0.0008 0.0014 . 0.002 0.001 . . . . . 0.4871795 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.829 . @ . . . . . 1 0.979 . . 39.0 . . . 0.0008 0.0021 0.0027 0.0008 0.0021 0.0027 . 0.8008 0.784 0.801 c . . . . . 2.261e-03 . . . 0.0007 0.0020 0.0019 0 0.0008 0.0035 0.0014 0.0002 0.0007 0.0021 0.0019 0 0.0006 0.0034 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.672 . . exonic exonic exonic . . 0.846 0.0008 . . . 0.43 0.36 182 ENSG00000121690 DEPDC7 DEPDC7 . . . 1.000 0.423 . 187 0.00287799 64976 183 0.00305071 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.721 0.074 . . 37 . 0.775 . . 0.785 . . . 0.823 0.520 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.621 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.912 . . . . . 0.418 . 0.807 . HET 0 rs75979055 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 10.163 0.001318 . V.59 V.59 . 0.080000 . . . . 0.002097 . 0.908 . . V.59 0.0007 0.0024 0.0021 0.0002 0 0.0010 0.0042 0.0024 0.0002 0.0010 0.0024 0 0.0033 0 0.0006 0.0039 0.0020 . . 0.428 . 2.132 2.132000 . . 0.080000 . . 1.0E-255 1.000 0.715 . 0.888 0.964 . 0.910 . 0.960 2.132 1.062 0.0027 . . rs75979055 rs75979055 1 1538 10 1/0 0,255,255 +. 11 33612726 ATGGTT A - KIAA1549L 24836 KIAA1549-like NM_012194.2 1 11622 5550 NP_036326.2 Q6ZVL6 deletion intron GRCh37 33612727 33612731 Chr11(GRCh37):g.33612727_33612731del 3676-56 3676-52 NM_012194.2:c.3676-56_3676-52del p.? p.? 11 10 612297 -52 3' 90.205 9.75525 0.971155 9.44847 90.205 9.75525 0.971155 9.14431 0 rs536138898 yes no Frequency/1000G 2 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.004132 0.001946 0.003580 0.003311 0.000000 0.000000 0.006728 0.001146 0.002037 0.006728 128 17 3 1 0 0 101 4 2 30980 8734 838 302 1622 0 15012 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128 17 3 1 0 0 101 4 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes TGGTT 255 Pass . . . . . . 0.0012 0.0029 . 0.004 . . . . . . 0.5882353 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 51 . . INTRON(MODIFIER||||KIAA1549L|mRNA|CODING|NM_012194|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000110427 KIAA1549L KIAA1549L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536138898 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0041 0.0036 0.0033 0 0.0011 0.0067 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1.I 0,12,23 +rs138681708 11 35454165 A G - PAMR1 24554 Peptidase domain containing associated with muscle regeneration 1 NM_015430.3 -1 3190 2214 NP_056245.2 substitution synonymous exon GRCh37 35454165 35454165 Chr11(GRCh37):g.35454165A>G 1953 1953 NM_015430.3:c.1953T>C p.His651= p.His651His 12 276 3' 80.3723 9.36846 0.940688 7.52087 80.3723 9.36846 0.940688 7.52087 0 Peptidase S1/S6, chymotrypsin/Hap rs138681708 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008000 0.001400 0.005376 0.001000 0.001047 0.002566 0.000000 0.000456 0.008600 0.009869 0.007273 0.009869 1487 24 36 26 0 14 1086 254 47 276580 23998 34386 10132 18862 30730 126274 25736 6462 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 1481 24 36 26 0 14 1082 252 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4402 12927 71 2 73 0.00825966 0.000454133 0.00561538 0.00825966 0.000454133 0.00561538 80 transition T C T>C 0.992 0.125 H His CAT 0.413 H His CAC 0.587 651 255 PASS . 0.0018 0.0028 . 0.004 . 0.0018 0.0014 . 0.008 . . . . . . 0.5590062 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 161.0 . . . 0.0005 0.0056 0.0083 0.0005 0.0056 0.0083 . 0.9891 . . . . . . . . 5.848e-03 . . . 0.0013 0.0041 0.0011 0 0.0114 0.0068 0.0057 0.0005 0.0011 0.0054 0.0011 0 0.0110 0.0087 0.0029 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.19 0.28 182 ENSG00000149090 PAMR1 PAMR1 . . . . . . 402 0.0061869 64976 393 0.00655153 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138681708 . . . . . . . . . . . . . . . . . . . . . . . 0.005615 . . . . . 0.0010 0.0052 0.0010 0.0025 0 0.0101 0.0083 0.0075 0.0005 0.0010 0.0066 0.0012 0.0033 0 0.0083 0.0105 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0083 . . rs138681708 rs138681708 1 1538 10 1/0 0,239,245 +rs138242314 11 45955752 T C - PHF21A 24156 PHD finger protein 21A NM_001352025.1 -1 7462 2046 NP_001338954.1 substitution missense exon GRCh37 45955752 45955752 Chr11(GRCh37):g.45955752T>C 1813 1813 NM_001352025.1:c.1813A>G p.Ile605Val p.Ile605Val 19 608325 25 3' 84.2017 8.77997 0.825505 9.67715 84.2017 8.77997 0.825505 9.94092 0 Cryptic Acceptor Strongly Activated 45955737 5.95696 0.002803 76.531 6.99168 0.004894 76.531 rs138242314 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001461 0.000541 0.000320 0.000099 0.000000 0.000650 0.002616 0.000865 0.000930 0.002616 404 13 11 1 0 20 331 22 6 276616 24028 34404 10136 18868 30778 126508 25440 6454 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 400 13 11 1 0 20 327 22 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4401 12980 19 3 22 0.00220982 0.000681199 0.00169205 0.00220982 0.000681199 0.00169205 98 transition A G A>G 1.000 3.434 I Ile ATC 0.481 V Val GTC 0.240 605 12 11 Tetraodon 3 3 4 0 0 5.II 5.IX 111 84 29 C0 28.68 0.00 Tolerated 0.28 III.78 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 . . . . . 0.4047619 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.416 . @ . . . . . 1 0.423 . . 84.0 . . . 0.0007 0.0017 0.0022 0.0007 0.0017 0.0022 . 0.2508 0.387 0.251 c . . . . . 1.768e-03 . . . 0.0009 0.0013 0.0003 0 0.0008 0.0021 0 0.0007 0.0010 0.0017 0.0004 0 0.0006 0.0028 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.571 . . exonic exonic exonic . . 0.914 0.0006 . . . 0.64 0.52 182 ENSG00000135365 PHF21A PHF21A . . . 1.000 0.747 . 120 0.00184684 64976 117 0.00195046 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.340 0.014 . . 37 . 0.524 . . 0.496 . . . 0.235 0.537 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.358 . . 0.450 . . . . . . 0 0.272 . . . . . 0.809 . 0.485 . HET 0.2 rs138242314 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 16.098 5.35E-4 . V.78 V.78 . 0.220000 . . . . 0.001692 . 0.726 . . V.78 0.0006 0.0014 0.0003 0.0001 0 0.0009 0.0026 0.0009 0.0006 0.0005 0.0016 0 0 0 0.0006 0.0028 0.0010 . . 0.854 . 2.210 2.210000 . . 0.220000 . . 1.0E-255 1.000 0.715 . 0.697 0.995 . 0.713 . 0.807 2.210 0.991 0.0026 . . rs138242314 rs138242314 1 1538 10 1/0 0,255,255 +rs185310252 11 46400099 C T - DGKZ 2857 Diacylglycerol kinase, zeta 104kDa NM_001105540.1 1 4086 3354 NP_001099010.1 Q13574 substitution intron GRCh37 46400099 46400099 Chr11(GRCh37):g.46400099C>T 2982+49 2982+49 NM_001105540.1:c.2982+49C>T p.? p.? 28 28 601441 49 5' 71.1864 VII.39 0.856389 8.75301 71.1864 VII.39 0.856389 8.60704 0 rs185310252 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.001554 0.000587 0.001368 0.000000 0.000000 0.001823 0.002311 0.000389 0.001712 0.002311 428 14 47 0 0 56 290 10 11 275396 23854 34362 10086 18800 30714 125464 25690 6426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 428 14 47 0 0 56 290 10 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4394 12970 22 4 26 0.00255873 0.000909504 0.00200062 0.00255873 0.000909504 0.00200062 42 transition C T C>T 0.000 -0.037 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.001 0.001 . DGKZ:uc010rgq.2:exon26:c.C2413T:p.L805L . . . 0.58870965 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . 0.0009 0.002 0.0026 0.0009 0.002 0.0026 . 1.0889 . . . . . . . . 1.554e-03 . . . 0.0011 0.0017 0.0013 0 0.0003 0.0021 0 0.0022 0.0013 0.0017 0.0014 0 0.0005 0.0021 0 0.0022 . synonymous_SNV . . . . intronic exonic intronic . . . 0.0004 . . . 0.37 0.05 182 ENSG00000149091 DGKZ DGKZ . . . . . . 96 0.00147747 64976 94 0.00156703 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs185310252 . . . . . . . . . . . . . . . . . . . . . . . 0.002001 . . . . . 0.0007 0.0015 0.0013 0 0 0.0003 0.0022 0.0020 0.0018 0.0003 0.0019 0.0036 0 0 0.0009 0.0033 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs185310252 rs185310252 1 1538 10 1/0 0,255,255 +rs11570107 11 47356558 T C - MYBPC3 7551 Myosin binding protein C, cardiac NM_000256.3 -1 4217 3825 NP_000247.2 Q14896 substitution intron GRCh37 47356558 47356558 Chr11(GRCh37):g.47356558T>C 2905+35 2905+35 NM_000256.3:c.2905+35A>G p.? p.? 27 27 600958 35 5' 69.2378 7.55301 0.926597 8.59212 69.2378 7.55301 0.926597 8.74162 0 Cryptic Acceptor Weakly Activated 47356545 5.31235 0.180512 77.7155 5.61476 0.207579 77.8084 rs11570107 yes no Frequency/HapMap/1000G 3 T 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.002202 0.000796 0.002145 0.000000 0.000000 0.001874 0.003577 0.000469 0.001700 0.003577 343 14 37 0 0 24 253 9 6 155744 17586 17246 3456 11184 12810 70736 19196 3530 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 343 14 37 0 0 24 253 9 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8238 3903 12141 18 3 21 0.00218023 0.000768049 0.00172669 0.00218023 0.000768049 0.00172669 18 transition A G A>G 0.000 0.367 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.4181818 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . 0.0008 0.0017 0.0022 0.0008 0.0017 0.0022 . 0.2256 . . . . . . . . 1.787e-03 . . . 0.0018 0.0027 0.0022 0 0.0006 0.0040 0 0.0018 0.0018 0.0029 0.0024 0 0.0008 0.0042 0.0028 0.0018 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.41 0.23 182 ENSG00000134571 MYBPC3 MYBPC3 . . . . . . 109 0.00167754 64976 104 0.00173374 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 10 . . . . . . . . . . HET . rs11570107 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.001727 . . . . . 0.0014 0.0023 0.0020 0 0 0.0003 0.0037 0.0024 0.0019 0.0002 0.0019 0.0060 0 0 0.0011 0.0031 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs11570107 rs11570107 rs11570107 rs11570107 1 1538 10 1/0 0,248,255 +rs78476140 (chr11:47640349 G/A) 11 47640349 G A Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs77215521 (chr11:47640350 G/A) 11 47640350 G A Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs76999459 (chr11:47640355 C/T) 11 47640355 C T Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs76315325 (chr11:47640367 T/A) 11 47640367 T A Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs73465610 (chr11:47640398 T/C) 11 47640398 T C Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs76666113 (chr11:47647265 A/G) 11 47647265 A G Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +. (chr11:47647285 C/G) 11 47647285 C G Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs72909899 (chr11:47663996 C/T) 11 47663996 C T Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +. (chr11:49854989 C/T) 11 49854989 C T Not on a known gene +rs74825677 11 56143256 A G - OR8U1 19611 Olfactory receptor, family 8, subfamily U, member 1 NM_001005204.1 1 930 930 NP_001005204.1 Q8NH10 substitution missense exon GRCh37 56143256 56143256 Chr11(GRCh37):g.56143256A>G 157 157 NM_001005204.1:c.157A>G p.Thr53Ala p.Thr53Ala 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs74825677 yes no Frequency 1 A 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000041 0.000000 0.000000 0.000041 3 0 0 0 0 0 3 0 0 171242 8136 25022 8524 11226 24166 72792 17380 3996 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 290 Exomes COSM4601028 Upper aerodigestive tract 0.001608 1244 transition A G A>G 0.000 -0.924 T Thr ACA 0.280 A Ala GCA 0.226 53 10 2 Chimp 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 130.02 0.00 Tolerated 1 IV.32 good 5.704E-1 0.1427 222 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.A157G:p.T53A OR8U8:uc001nit.2:exon1:c.A157G:p.T53A OR8U1:NM_001005204:exon1:c.A157G:p.T53A . . 0.2195122 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.019 . . 82.0 . . . . . . . . . . -2.0603 -2.029 -2.060 c . . . . . 2.389e-05 . . . . . . . . . . . 0 5.424e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.018 @ . . . 0.16 0.13 182 ENSG00000172199 OR8U8 . . . . 0.009 0.117 . . . . . . . Uncertain_significance . 0 . 0.094 . . . . T 0.059 0.003 . . 37 . 0.005 . . 0.467 . . . 0.016 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.302 . . . . . 0.067 . 0.236 . HET 0.13 rs74825677 . . . . . . . . . . . . III.04 . ENST00000302270 V.78 -6.39 . 0.110000 Q8NH10 . . . . . 0.067 . . . 0 1.752e-05 0 0 0 0 4.121e-05 0 0 . . . . . . . . . . 0.133 . -0.777 -0.777000 . . 0.110000 . . 1.0E-222 0.000 0.063 . 0.095 0.006 . 0.077 . 0.017 -0.777 -1.594 . . . rs74825677 rs74825677 1 1538 10 1/0 0,246,255 +rs74825677 11 56143256 A G - OR8U8 27538 Olfactory receptor, family 8, subfamily U, member 8 NM_001013356.1 1 960 960 NP_001013374.1 P0C7N1 substitution missense exon GRCh37 56143256 56143256 Chr11(GRCh37):g.56143256A>G 157 157 NM_001013356.1:c.157A>G p.Thr53Ala p.Thr53Ala 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs74825677 yes no Frequency 1 A 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000041 0.000000 0.000000 0.000041 3 0 0 0 0 0 3 0 0 171242 8136 25022 8524 11226 24166 72792 17380 3996 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 290 Exomes COSM4601028 Upper aerodigestive tract 0.001608 1244 transition A G A>G 0.000 -0.924 T Thr ACA 0.280 A Ala GCA 0.226 53 7 3 Gorilla 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 215.31 8.IX Tolerated 0.08 IV.32 bad 9.12E-5 0.0001286 222 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.A157G:p.T53A OR8U8:uc001nit.2:exon1:c.A157G:p.T53A OR8U1:NM_001005204:exon1:c.A157G:p.T53A . . 0.2195122 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.019 . . 82.0 . . . . . . . . . . -2.0603 -2.029 -2.060 c . . . . . 2.389e-05 . . . . . . . . . . . 0 5.424e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.018 @ . . . 0.16 0.13 182 ENSG00000172199 OR8U8 . . . . 0.009 0.117 . . . . . . . Uncertain_significance . 0 . 0.094 . . . . T 0.059 0.003 . . 37 . 0.005 . . 0.467 . . . 0.016 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.302 . . . . . 0.067 . 0.236 . HET 0.13 rs74825677 . . . . . . . . . . . . III.04 . ENST00000302270 V.78 -6.39 . 0.110000 Q8NH10 . . . . . 0.067 . . . 0 1.752e-05 0 0 0 0 4.121e-05 0 0 . . . . . . . . . . 0.133 . -0.777 -0.777000 . . 0.110000 . . 1.0E-222 0.000 0.063 . 0.095 0.006 . 0.077 . 0.017 -0.777 -1.594 . . . rs74825677 rs74825677 1 1538 10 1/0 0,246,255 +rs74825677 (chr11:56143256 A/G) 11 56143256 A G Transcript NM_001013357.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) OR8U9 +rs75727721 11 56143260 G A - OR8U1 19611 Olfactory receptor, family 8, subfamily U, member 1 NM_001005204.1 1 930 930 NP_001005204.1 Q8NH10 substitution missense exon GRCh37 56143260 56143260 Chr11(GRCh37):g.56143260G>A 161 161 NM_001005204.1:c.161G>A p.Ser54Asn p.Ser54Asn 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs75727721 no no 0 G 0.000000 0 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000011 0.000049 0.000000 0.000049 2 0 0 0 0 0 1 1 0 201724 16726 26654 8734 13060 23986 87040 20574 4950 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145832|COSM4145832 Upper aerodigestive tract|Thyroid 0.001608|0.001339 1244|747 transition G A G>A 0.000 -0.198 S Ser AGT 0.149 N Asn AAT 0.464 54 10 2 Chimp 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 124.29 IV.86 Tolerated 0.06 IV.32 bad 4.348E-3 0.005988 223 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.G161A:p.S54N OR8U8:uc001nit.2:exon1:c.G161A:p.S54N OR8U1:NM_001005204:exon1:c.G161A:p.S54N . . 0.22222222 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.066 . . 81.0 . . . . . . . . . . -1.5003 -1.460 -1.500 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.135 @ . . . 0.15 0.05 182 ENSG00000172199 OR8U8 . . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.049 0.002 . . 37 . 0.005 . . 0.472 . . . 0.137 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.090 . . 0.139 . . . . . . 0 0.457 . . . . . 0.298 . 0.336 . HET 0 rs75727721 . . . . . . . . . . . . 8.099 . ENST00000302270 V.78 0.0477 . 0.030000 Q8NH10 . . . . . 0.073 . . . 0 5.823e-06 0 0 0 5.832e-05 0 0 0 0 3.335e-05 0 0 0 0 6.98e-05 0 . . 0.133 . 0.291 0.291000 . . 0.030000 . . 1.0E-223 0.000 0.063 . 0.163 0.038 . 0.047 . 0.068 0.291 -0.401 . . . rs75727721 rs75727721 1 1538 10 1/0 0,246,255 +rs75727721 11 56143260 G A - OR8U8 27538 Olfactory receptor, family 8, subfamily U, member 8 NM_001013356.1 1 960 960 NP_001013374.1 P0C7N1 substitution missense exon GRCh37 56143260 56143260 Chr11(GRCh37):g.56143260G>A 161 161 NM_001013356.1:c.161G>A p.Ser54Asn p.Ser54Asn 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs75727721 no no 0 G 0.000000 0 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000011 0.000049 0.000000 0.000049 2 0 0 0 0 0 1 1 0 201724 16726 26654 8734 13060 23986 87040 20574 4950 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145832|COSM4145832 Upper aerodigestive tract|Thyroid 0.001608|0.001339 1244|747 transition G A G>A 0.000 -0.198 S Ser AGT 0.149 N Asn AAT 0.464 54 7 3 Gorilla 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 242.22 17.80 Tolerated 0.32 IV.32 bad 6.756E-4 0.001533 223 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.G161A:p.S54N OR8U8:uc001nit.2:exon1:c.G161A:p.S54N OR8U1:NM_001005204:exon1:c.G161A:p.S54N . . 0.22222222 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.066 . . 81.0 . . . . . . . . . . -1.5003 -1.460 -1.500 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.135 @ . . . 0.15 0.05 182 ENSG00000172199 OR8U8 . . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.049 0.002 . . 37 . 0.005 . . 0.472 . . . 0.137 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.090 . . 0.139 . . . . . . 0 0.457 . . . . . 0.298 . 0.336 . HET 0 rs75727721 . . . . . . . . . . . . 8.099 . ENST00000302270 V.78 0.0477 . 0.030000 Q8NH10 . . . . . 0.073 . . . 0 5.823e-06 0 0 0 5.832e-05 0 0 0 0 3.335e-05 0 0 0 0 6.98e-05 0 . . 0.133 . 0.291 0.291000 . . 0.030000 . . 1.0E-223 0.000 0.063 . 0.163 0.038 . 0.047 . 0.068 0.291 -0.401 . . . rs75727721 rs75727721 1 1538 10 1/0 0,246,255 +rs75727721 (chr11:56143260 G/A) 11 56143260 G A Transcript NM_001013357.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) OR8U9 +rs199607712 11 56143261 T A - OR8U1 19611 Olfactory receptor, family 8, subfamily U, member 1 NM_001005204.1 1 930 930 NP_001005204.1 Q8NH10 substitution missense exon GRCh37 56143261 56143261 Chr11(GRCh37):g.56143261T>A 162 162 NM_001005204.1:c.162T>A p.Ser54Arg p.Ser54Arg 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs199607712 no no 0 T 0.000000 0 COSM4145833|COSM4145833|COSM4145833 Upper aerodigestive tract|Thyroid|Large intestine 0.001608|0.001339|0.000448 1244|747|2231 transversion T A T>A 0.000 -0.360 S Ser AGT 0.149 R Arg AGA 0.205 54 10 2 Chimp -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 124.29 0.00 Tolerated 1 IV.32 good 9.913E-1 0.005988 220 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.T162A:p.S54R OR8U8:uc001nit.2:exon1:c.T162A:p.S54R OR8U1:NM_001005204:exon1:c.T162A:p.S54R . . 0.21518987 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.001 . . 79.0 . . . . . . . . . . -2.0891 -1.967 -2.089 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.050 @ . . . 0.14 0.1 182 ENSG00000172199 OR8U8 . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.015 0.001 . . 37 . 0.002 . . 0.455 . . . 0.010 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.002 . 0.437 . HET 1 rs199607712 . . . . . . . . . . . . 0.2744 . ENST00000302270 V.78 -3.07 . 1.000000 Q8NH10 . . . . . 0.058 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.105 -0.105000 . . 1.000000 . . 1.0E-220 0.000 0.063 . 0.172 0.109 . 0.056 . 0.037 -0.105 -0.503 . . . rs199607712 rs199607712 1 1538 10 1/0 0,247,255 +rs199607712 11 56143261 T A - OR8U8 27538 Olfactory receptor, family 8, subfamily U, member 8 NM_001013356.1 1 960 960 NP_001013374.1 P0C7N1 substitution missense exon GRCh37 56143261 56143261 Chr11(GRCh37):g.56143261T>A 162 162 NM_001013356.1:c.162T>A p.Ser54Arg p.Ser54Arg 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs199607712 no no 0 T 0.000000 0 COSM4145833|COSM4145833|COSM4145833 Upper aerodigestive tract|Thyroid|Large intestine 0.001608|0.001339|0.000448 1244|747|2231 transversion T A T>A 0.000 -0.360 S Ser AGT 0.149 R Arg AGA 0.205 54 7 3 Gorilla -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 242.22 0.00 Tolerated 1 IV.32 good 9.844E-1 0.001533 220 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.T162A:p.S54R OR8U8:uc001nit.2:exon1:c.T162A:p.S54R OR8U1:NM_001005204:exon1:c.T162A:p.S54R . . 0.21518987 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.001 . . 79.0 . . . . . . . . . . -2.0891 -1.967 -2.089 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.050 @ . . . 0.14 0.1 182 ENSG00000172199 OR8U8 . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.015 0.001 . . 37 . 0.002 . . 0.455 . . . 0.010 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.002 . 0.437 . HET 1 rs199607712 . . . . . . . . . . . . 0.2744 . ENST00000302270 V.78 -3.07 . 1.000000 Q8NH10 . . . . . 0.058 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.105 -0.105000 . . 1.000000 . . 1.0E-220 0.000 0.063 . 0.172 0.109 . 0.056 . 0.037 -0.105 -0.503 . . . rs199607712 rs199607712 1 1538 10 1/0 0,247,255 +rs199607712 (chr11:56143261 T/A) 11 56143261 T A Transcript NM_001013357.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) OR8U9 +rs2852415 11 56344377 A G - OR5M10 15290 Olfactory receptor, family 5, subfamily M, member 10 NM_001004741.1 -1 948 948 NP_001004741.1 Q6IEU7 substitution missense exon GRCh37 56344377 56344377 Chr11(GRCh37):g.56344377A>G 821 821 NM_001004741.1:c.821T>C p.Ile274Thr p.Ile274Thr 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs2852415 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000787 0.000625 0.000262 0.000099 0.000053 0.000552 0.001216 0.000659 0.000619 0.001216 218 15 9 1 1 17 154 17 4 277128 23984 34416 10152 18866 30774 126690 25786 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 218 15 9 1 1 17 154 17 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 1.658 I Ile ATT 0.356 T Thr ACT 0.243 274 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 249 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . ENSG00000254834:ENST00000526812:exon1:c.T821C:p.I274T OR5M10:uc001niz.1:exon1:c.T821C:p.I274T OR5M10:NM_001004741:exon1:c.T821C:p.I274T . . 0.30645162 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.087 . @ . . . . . 1 0.093 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I274T|OR5M10|mRNA|CODING|NM_001004741|NM_001004741.ex.1) . . . . . . . -1.0480 -1.036 -1.048 c . . . . . 9.527e-04 . . . 0.0008 0.0008 0.0003 0 0.0011 0.0010 0.0014 0.0007 0.0008 0.0009 0.0002 0.0001 0.0009 0.0012 0.0014 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.411 . . exonic exonic exonic . . 0.342 0.0004 . . . 0.27 0.34 182 ENSG00000254834 OR5M10 OR5M10 . . . 0.000 0.035 . 46 0.000707954 64976 44 0.000733504 59986 Uncertain_significance . 0 . . . . . . T 0.188 0.007 . . 37 . 0.268 . . 0.217 . . . 0.235 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.574 . . 0 0 0 0 0 0 . 0.179 . . 0.214 . . . . . . 0 0.301 . . . . . 0.356 . 0.218 . HET . rs2852415 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 9.0962 0.0 ENST00000526812 4.II 3.VI . 0.140000 Q6IEU7 . . . . . 0.126 . . 3.VI 0.0007 0.0008 0.0002 0.0001 5.798e-05 0.0007 0.0012 0.0005 0.0006 0.0006 0.0009 0.0012 0 0 0.0003 0.0013 0.0010 . . 0.133 . 0.744 0.744000 . . 0.140000 . . 1.0E-249 0.000 0.063 . 0.016 0.276 . 0.201 . 0.044 0.744 0.083 0.0013 rs2852415 rs2852415 rs2852415 rs2852415 1 1538 10 1/0 0,255,255 +rs77393388 11 56467759 C A - OR9G1 15319 Olfactory receptor, family 9, subfamily G, member 1 NM_001005213.1 1 918 918 NP_001005213.1 Q8NH87 substitution upstream GRCh37 56467759 56467759 Chr11(GRCh37):g.56467759C>A -105 -105 NM_001005213.1:c.-105C>A p.? p.? 1 rs77393388 yes no Frequency/1000G 2 C 0.000000 0 transversion C A C>A 0.000 0.448 224 PASS . . . . . . . . . . . . . . . . 0.2264151 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . 0.0556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . 0.0008 . . . 0.38 0.19 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77393388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs77393388 rs77393388 1 1538 10 1/0 0,255,255 +rs77393388 11 56467759 C A - OR9G9 31940 Olfactory receptor, family 9, subfamily G, member 9 NM_001013358.2 1 918 918 NP_001013376.2 P0C7N8 substitution upstream GRCh37 56467759 56467759 Chr11(GRCh37):g.56467759C>A -105 -105 NM_001013358.2:c.-105C>A p.? p.? 1 rs77393388 yes no Frequency/1000G 2 C 0.000000 0 transversion C A C>A 0.000 0.448 224 PASS . . . . . . . . . . . . . . . . 0.2264151 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . 0.0556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . 0.0008 . . . 0.38 0.19 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77393388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs77393388 rs77393388 1 1538 10 1/0 0,255,255 +rs79740513 11 56467760 G A - OR9G1 15319 Olfactory receptor, family 9, subfamily G, member 1 NM_001005213.1 1 918 918 NP_001005213.1 Q8NH87 substitution upstream GRCh37 56467760 56467760 Chr11(GRCh37):g.56467760G>A -104 -104 NM_001005213.1:c.-104G>A p.? p.? 1 rs79740513 yes no Frequency/1000G 2 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000617 0.000000 0.000000 0.000000 0.000000 0.000617 1 0 0 0 1 0 0 0 0 30044 8716 814 258 1622 0 14210 3490 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transition G A G>A 0.000 0.205 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . 0.1034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . 0.0002 . . . 0.42 0.24 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79740513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.328e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs79740513 rs79740513 1 1538 10 1/0 0,255,255 +rs79740513 11 56467760 G A - OR9G9 31940 Olfactory receptor, family 9, subfamily G, member 9 NM_001013358.2 1 918 918 NP_001013376.2 P0C7N8 substitution upstream GRCh37 56467760 56467760 Chr11(GRCh37):g.56467760G>A -104 -104 NM_001013358.2:c.-104G>A p.? p.? 1 rs79740513 yes no Frequency/1000G 2 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000617 0.000000 0.000000 0.000000 0.000000 0.000617 1 0 0 0 1 0 0 0 0 30044 8716 814 258 1622 0 14210 3490 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transition G A G>A 0.000 0.205 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . 0.1034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . 0.0002 . . . 0.42 0.24 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79740513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.328e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs79740513 rs79740513 1 1538 10 1/0 0,255,255 +rs76620500 11 56467761 A G - OR9G1 15319 Olfactory receptor, family 9, subfamily G, member 1 NM_001005213.1 1 918 918 NP_001005213.1 Q8NH87 substitution upstream GRCh37 56467761 56467761 Chr11(GRCh37):g.56467761A>G -103 -103 NM_001005213.1:c.-103A>G p.? p.? 1 rs76620500 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.763 215 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . . . . . . . . . -0.1417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . @ . . . 0.38 0.27 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76620500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . rs76620500 rs76620500 1 1538 10 1/0 0,255,255 +rs76620500 11 56467761 A G - OR9G9 31940 Olfactory receptor, family 9, subfamily G, member 9 NM_001013358.2 1 918 918 NP_001013376.2 P0C7N8 substitution upstream GRCh37 56467761 56467761 Chr11(GRCh37):g.56467761A>G -103 -103 NM_001013358.2:c.-103A>G p.? p.? 1 rs76620500 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.763 215 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . . . . . . . . . -0.1417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . @ . . . 0.38 0.27 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76620500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . rs76620500 rs76620500 1 1538 10 1/0 0,255,255 +rs75599799 11 56467763 A T - OR9G1 15319 Olfactory receptor, family 9, subfamily G, member 1 NM_001005213.1 1 918 918 NP_001005213.1 Q8NH87 substitution upstream GRCh37 56467763 56467763 Chr11(GRCh37):g.56467763A>T -101 -101 NM_001005213.1:c.-101A>T p.? p.? 1 rs75599799 no no 0 T 0.000000 0 transversion A T A>T 0.000 -2.619 216 PASS . . . . . . . . . . . . . . . . 0.20338982 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 59.0 . . . . . . . . . . -0.5134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . @ . . . 0.4 0.26 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75599799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs75599799 rs75599799 1 1538 10 1/0 0,255,255 +rs75599799 11 56467763 A T - OR9G9 31940 Olfactory receptor, family 9, subfamily G, member 9 NM_001013358.2 1 918 918 NP_001013376.2 P0C7N8 substitution upstream GRCh37 56467763 56467763 Chr11(GRCh37):g.56467763A>T -101 -101 NM_001013358.2:c.-101A>T p.? p.? 1 rs75599799 no no 0 T 0.000000 0 transversion A T A>T 0.000 -2.619 216 PASS . . . . . . . . . . . . . . . . 0.20338982 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 59.0 . . . . . . . . . . -0.5134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . @ . . . 0.4 0.26 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75599799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs75599799 rs75599799 1 1538 10 1/0 0,255,255 +rs145067883 11 60636698 G A - ZP1 13187 Zona pellucida glycoprotein 1 (sperm receptor) NM_207341.3 1 1972 1917 NP_997224.2 P60852 substitution missense exon GRCh37 60636698 60636698 Chr11(GRCh37):g.60636698G>A 277 277 NM_207341.3:c.277G>A p.Val93Ile p.Val93Ile 2 195000 -42 5' 84.5939 VIII.53 0.69482 7.77499 84.5939 VIII.53 0.69482 7.87877 0 rs145067883 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.003100 0.000000 0.003000 0.000000 0.006220 0.001124 0.000930 0.007785 0.000053 0.005913 0.007445 0.015936 0.007580 0.015936 1724 27 32 79 1 182 943 411 49 277158 24022 34420 10148 18866 30780 126668 25790 6464 0.000051 0.000000 0.000000 0.000197 0.000000 0.000065 0.000032 0.000233 0.000000 7 0 0 1 0 1 2 3 0 1710 27 32 77 1 180 939 405 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4401 12944 55 5 60 0.00639684 0.00113482 0.00461396 0.00639684 0.00113482 0.00461396 53 transition G A G>A 0.213 0.205 V Val GTC 0.240 I Ile ATC 0.481 93 12 7 Mouse 3 3 4 0 0 5.IX 5.II 84 111 29 C0 256.10 0.00 Tolerated 0.57 3.IV 255 PASS . 0.0014 . . 0.004 . 0.0012 . . 0.003 0.0031 ENSG00000149506:ENST00000278853:exon2:c.G277A:p.V93I ZP1:uc001nqd.3:exon2:c.G277A:p.V93I ZP1:NM_207341:exon2:c.G277A:p.V93I . . 0.38709676 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.303 . @ . . . . . 1 0.828 . . 93.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V93I|ZP1|mRNA|CODING|NM_207341|NM_207341.ex.2) 0.0011 0.0046 0.0064 0.0011 0.0046 0.0064 . -0.4914 -0.477 -0.491 c . . . . . 6.093e-03 . . . 0.0010 0.0044 0.0010 0 0.0116 0.0059 0.0070 0.0051 0.0010 0.0058 0.0011 0 0.0132 0.0077 0.0072 0.0051 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.263 0.0012 . . . 0.27 0.32 182 ENSG00000149506 ZP1 ZP1 . . . 0.952 0.279 . 378 0.00581753 64976 372 0.00620145 59986 Uncertain_significance . 0 . 0.361 . . . . . . . . . 37 . 0.167 . . 0.174 . . . 0.225 0.182 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.156 . . 0 0 0 0 0 0 . 0.239 . . 0.158 . . . . . . 0 0.326 . . . . . 0.089 . 0.228 . HET 0.23 rs145067883 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 III.81 0.001605 ENST00000278853 4.VIII II.13 . 0.040000 P60852 . . Name\x3dnsv897598 0.004614 . 0.168 . . II.13 0.0011 0.0061 0.0009 0.0075 5.798e-05 0.0158 0.0073 0.0064 0.0059 0.0011 0.0069 0.0024 0.0166 0 0.0166 0.0084 0.0143 . . 0.133 . 0.922 0.922000 . . 0.040000 . . 1.0E-255 0.271 0.248 . 0.244 0.242 . 0.221 . 0.334 0.922 0.917 0.0064 . . rs145067883 rs145067883 1 1538 10 1/0 0,255,255 +rs200123055 11 61643674 C T - FADS3 3576 Fatty acid desaturase 3 NM_021727.4 -1 1793 1338 NP_068373.1 Q9Y5Q0 substitution intron GRCh37 61643674 61643674 Chr11(GRCh37):g.61643674C>T 1081-12 1081-12 NM_021727.4:c.1081-12G>A p.? p.? 10 9 606150 -12 3' 72.7675 6.02102 0.06756 5.96583 0 1.10736 0.064365 1.73958 -0.621125 New Acceptor Site 61643672 4.90981 0.148754 72.5162 rs200123055 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 202878 11418 29034 9008 14332 27512 88820 18046 4708 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 91 Exomes transition G A G>A 0.000 -1.005 255 PASS 0.002 0.0005 . . . 0.0008 0.0002 . . . . . . . . . 0.5 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . 0.1073 . . . . . . . . 1.589e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.39 0.17 182 ENSG00000221968 FADS3 FADS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200123055 . . . . . . . . . . . . . . . . . . . . 0.9946 0.938 . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs200123055 rs200123055 1 1538 10 1/0 0,255,255 +rs777594256 11 61735080 G T - FTH1 3976 Ferritin, heavy polypeptide 1 NM_002032.2 -1 1229 552 NP_002023.2 P02794 substitution 5'UTR GRCh37 61735080 61735080 Chr11(GRCh37):g.61735080G>T -183 -183 NM_002032.2:c.-183C>A p.? p.? 1 134770 -297 5' 81.0413 8.27203 0.981023 XII.93 81.0413 8.27203 0.981023 XII.93 0 rs777594256 yes no Frequency 1 G 0.000000 0 0.000934 0.000076 0.000086 0.000265 0.000090 0.000047 0.002175 0.000764 0.000000 0.002175 135 1 2 2 1 1 122 6 0 144574 13122 23342 7540 11050 21398 56086 7850 4186 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 135 1 2 2 1 1 122 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 1.000 1.174 255 PASS . . . . . . . . . . . . . . . . 0.33519554 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . -0.0340 . . . . . . . . 7.245e-03 . . . 0.0208 0.0088 0.0114 0 . 0.0124 0 0.0075 0.0213 0.0087 0.0116 0.0078 . 0.0118 0 0.0075 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000167996 FTH1 FTH1 . uc001nsu.3:c.-183C>A NM_002032:c.-183C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs777594256 0.011 0.007 . . . . . . . . . . II.95 . ENST00000406545 IV.85 III.67 . 1.000000 . . . Name\x3dnsv897617 . . . . . III.67 0 0.0011 4.412e-05 0.0003 0.0001 0.0004 0.0028 0 4.673e-05 0.0001 0.0003 0.0015 0 0 0.0014 7.35e-05 0 . . . . 2.366 2.366000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 2.366 . 0.011 . . . . 1 1538 10 1/0 0,223,255 +. 11 62383715 GA G - B3GAT3 923 Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) NM_012200.3 -1 1641 1008 NP_036332.2 O94766 deletion intron GRCh37 62383716 62383716 Chr11(GRCh37):g.62383716del 909+262 909+262 NM_012200.3:c.909+262del p.? p.? 4 4 606374 262 5' 86.0205 10.169 0.990824 8.22936 86.0205 10.169 0.990824 8.22936 0 rs35002433 yes no Frequency 1 A 0.000000 0 0.003277 0.003367 0.003604 0.003361 0.000894 0.002647 0.003905 0.001939 0.005796 0.003905 213 39 32 4 7 13 102 5 11 64990 11582 8878 1190 7832 4912 26120 2578 1898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 1 0 3 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.1625 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 80 . . . . . . . . . . . . . . . . . . . 1.838e-03 . . . 0 0.0278 0 0 . 0.0435 . 0.0625 0 0.0256 0 0 . 0.0417 . 0.0625 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000149541 B3GAT3 B3GAT3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35002433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0097 0.0050 0.0039 0.0044 0.0010 0.0024 0.0070 0.0078 0.0026 0.0003 0.0006 0 0 0.0006 0.0019 0.0006 0.0027 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35002433 rs35002433 rs35002433 rs35002433 1 1538 10 1.I 0,6,79 +. 11 62383715 GA G - ROM1 10254 Retinal outer segment membrane protein 1 NM_000327.3 1 1878 1056 NP_000318.1 Q03395 deletion downstream GRCh37 62383730 62383730 Chr11(GRCh37):g.62383730del *1419 *1419 NM_000327.3:c.*1419del p.? p.? 3 180721 1638 3' 86.7835 XI.22 0.981928 14.2901 86.7835 XI.22 0.981928 14.2901 0 rs35002433 yes no Frequency 1 A 0.000000 0 0.003277 0.003367 0.003604 0.003361 0.000894 0.002647 0.003905 0.001939 0.005796 0.003905 213 39 32 4 7 13 102 5 11 64990 11582 8878 1190 7832 4912 26120 2578 1898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 1 0 3 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.1625 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 80 . . . . . . . . . . . . . . . . . . . 1.838e-03 . . . 0 0.0278 0 0 . 0.0435 . 0.0625 0 0.0256 0 0 . 0.0417 . 0.0625 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000149541 B3GAT3 B3GAT3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35002433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0097 0.0050 0.0039 0.0044 0.0010 0.0024 0.0070 0.0078 0.0026 0.0003 0.0006 0 0 0.0006 0.0019 0.0006 0.0027 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35002433 rs35002433 rs35002433 rs35002433 1 1538 10 1.I 0,6,79 +rs60001928 11 62444856 T G - UBXN1 18402 UBX domain protein 1 NM_015853.4 -1 1353 939 NP_056937.2 substitution intron GRCh37 62444856 62444856 Chr11(GRCh37):g.62444856T>G 651+134 651+134 NM_015853.4:c.651+134A>C p.? p.? 7 7 616378 134 5' 71.8032 9.04236 0.918695 8.32113 71.8032 9.04236 0.918695 8.32113 0 Cryptic Acceptor Strongly Activated 62444837 3.05019 0.015797 70.3554 III.31 0.022811 70.3554 rs60001928 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000618 0.000000 0.000000 0.000000 0.000000 0.000618 1 0 0 0 1 0 0 0 0 30932 8716 838 302 1618 0 14986 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion A C A>C 0.630 0.286 255 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.6896552 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.8088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . 0.0002 . . . 0.37 0.28 182 ENSG00000162191 UBXN1 UBXN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs60001928 . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . II.15 . . . . . . . . . 0 3.233e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs60001928 rs60001928 rs60001928 rs60001928 1 1538 10 1/0 0,255,255 +rs191835830 11 62473231 G C - BSCL2 15832 BSCL2, seipin lipid droplet biogenesis associated NM_001122955.3 -1 2006 1389 NP_001116427.1 substitution intron GRCh37 62473231 62473231 Chr11(GRCh37):g.62473231G>C 88-142 88-142 NM_001122955.3:c.88-142C>G p.? p.? 2 1 606158 -142 3' 90.6037 XII.58 0.982814 13.0047 90.6037 XII.58 0.982814 13.0047 0 rs191835830 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.005000 0.008600 0.007272 0.000000 0.000000 0.000000 0.000000 0.000000 0.009011 0.020893 0.017347 0.020893 225 0 0 0 0 0 135 73 17 30942 8728 838 302 1618 0 14982 3494 980 0.017778 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.013699 0.000000 4 0 0 0 0 0 3 1 0 217 0 0 0 0 0 129 71 17 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C G C>G 0.024 2.465 255 PASS . 0.0027 0.01 . 0.01 . 0.0022 0.0086 . 0.005 . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . I.48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0022 . . . 0.32 0.29 182 . HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 . . . . . . 222 0.00341665 64976 212 0.00353416 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191835830 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv897623 . . . . . III.95 . . . . . . . . . 0 0.0073 0 0 0 0.0209 0.0090 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs191835830 rs191835830 1 1538 10 1/0 0,255,255 +rs191835830 11 62473231 G C - GNG3 4405 Guanine nucleotide binding protein (G protein), gamma 3 NM_012202.4 1 951 228 NP_036334.1 P63215 substitution upstream GRCh37 62473231 62473231 Chr11(GRCh37):g.62473231G>C -2158 -2158 NM_012202.4:c.-2158G>C p.? p.? 1 608941 -2157 5' 100 X.83 0.998409 X.47 100 X.83 0.998409 X.47 0 rs191835830 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.005000 0.008600 0.007272 0.000000 0.000000 0.000000 0.000000 0.000000 0.009011 0.020893 0.017347 0.020893 225 0 0 0 0 0 135 73 17 30942 8728 838 302 1618 0 14982 3494 980 0.017778 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.013699 0.000000 4 0 0 0 0 0 3 1 0 217 0 0 0 0 0 129 71 17 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion G C G>C 0.024 2.465 255 PASS . 0.0027 0.01 . 0.01 . 0.0022 0.0086 . 0.005 . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . I.48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0022 . . . 0.32 0.29 182 . HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 . . . . . . 222 0.00341665 64976 212 0.00353416 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191835830 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv897623 . . . . . III.95 . . . . . . . . . 0 0.0073 0 0 0 0.0209 0.0090 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs191835830 rs191835830 1 1538 10 1/0 0,255,255 +rs191835830 11 62473231 G C - HNRNPUL2-BSCL2 49189 HNRNPUL2-BSCL2 readthrough NR_037946.1 -1 4014 0 substitution intron GRCh37 62473231 62473231 Chr11(GRCh37):g.62473231G>C 2608-142 2608-142 NR_037946.1:n.2608-142C>G p.? p.? 15 14 -142 3' 90.6037 XII.58 0.982814 13.0047 90.6037 XII.58 0.982814 13.0047 0 rs191835830 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.005000 0.008600 0.007272 0.000000 0.000000 0.000000 0.000000 0.000000 0.009011 0.020893 0.017347 0.020893 225 0 0 0 0 0 135 73 17 30942 8728 838 302 1618 0 14982 3494 980 0.017778 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.013699 0.000000 4 0 0 0 0 0 3 1 0 217 0 0 0 0 0 129 71 17 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C G C>G 0.024 2.465 255 PASS . 0.0027 0.01 . 0.01 . 0.0022 0.0086 . 0.005 . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . I.48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0022 . . . 0.32 0.29 182 . HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 . . . . . . 222 0.00341665 64976 212 0.00353416 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191835830 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv897623 . . . . . III.95 . . . . . . . . . 0 0.0073 0 0 0 0.0209 0.0090 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs191835830 rs191835830 1 1538 10 1/0 0,255,255 +rs748700444 (chr11:63129891 C/T) 11 63129891 C T Not on a known gene +. 11 63330196 T C - HRASLS2 17824 HRAS-like suppressor 2 NM_017878.1 -1 742 489 NP_060348.1 Q9NWW9 substitution intron GRCh37 63330196 63330196 Chr11(GRCh37):g.63330196T>C 9+592 9+592 NM_017878.1:c.9+592A>G p.? p.? 1 1 613866 592 5' 87.3609 X.15 0.995182 IV.95 87.3609 X.15 0.995182 IV.95 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30962 8724 838 302 1620 0 15006 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.3970588 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||HRASLS2|mRNA|CODING|NM_017878|) . . . . . . . -0.3204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000133328 HRASLS2 HRASLS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.23e-05 0 0 0 0 6.664e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 11 63672589 T G - MARK2 3332 MAP/microtubule affinity-regulating kinase 2 NM_001039469.2 1 4729 2367 NP_001034558.2 Q7KZI7 substitution intron GRCh37 63672589 63672589 Chr11(GRCh37):g.63672589T>G 1934+74 1934+74 NM_001039469.2:c.1934+74T>G p.? p.? 16 16 600526 74 5' 94.2214 9.88355 0.997739 9.53785 94.2214 9.88355 0.997739 9.64436 0 0.000454 0.000270 0.000000 0.000000 0.000000 0.000000 0.000302 0.002449 0.000000 0.002449 12 2 0 0 0 0 4 6 0 26426 7414 644 276 1592 0 13264 2450 786 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 2 0 0 0 0 4 6 0 0 0 0 0 0 0 0 0 0 RF 49 Genomes transversion T G T>G 0.197 0.205 238 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.0729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000072518 MARK2 MARK2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0005 0 0 0 0.0024 0.0003 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs148317844 11 63766544 C G - MACROD1 29598 MACRO domain containing 1 NM_014067.3 -1 1257 978 NP_054786.2 Q9BQ69 substitution intron GRCh37 63766544 63766544 Chr11(GRCh37):g.63766544C>G 892-36 892-36 NM_014067.3:c.892-36G>C p.? p.? 9 8 610400 -36 3' 0 0 0.027476 0 0 0 0.027476 0 0 rs148317844 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.001733 0.000541 0.001909 0.000412 0.000000 0.000219 0.003032 0.000318 0.001847 0.003032 338 10 52 3 0 5 254 5 9 195078 18486 27246 7284 14876 22840 83772 15700 4874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 338 10 52 3 0 5 254 5 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8037 4129 12166 27 3 30 0.00334821 0.000726041 0.00245982 0.00334821 0.000726041 0.00245982 11 transversion G C G>C 0.000 0.205 255 PASS 0.01 0.0037 0.0028 . 0.004 . 0.0008 . . 0.004 . . . . . . 0.5339806 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.0007 0.0025 0.0033 0.0007 0.0025 0.0033 . 0.6731 . . . . . . . . 1.308e-03 . . . 0.0006 0.0022 0.0014 0 0 0.0042 0 0.0003 0.0006 0.0021 0.0011 0 0 0.0034 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.34 0.37 182 . MACROD1 MACROD1 . . . . . . 95 0.00146208 64976 91 0.00151702 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs148317844 . . . . . . . . . . . . . . . . . . . . . . . 0.002460 . . . . . 0.0003 0.0018 0.0019 0.0003 0 0.0004 0.0032 0.0021 0.0002 0.0008 0.0014 0.0012 0.0033 0 0 0.0021 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs148317844 rs148317844 1 1538 10 1/0 0,255,255 +rs148317844 11 63766544 C G - OTUB1 23077 OTU domain, ubiquitin aldehyde binding 1 NM_017670.2 1 2294 816 NP_060140.2 Q96FW1 substitution downstream GRCh37 63766544 63766544 Chr11(GRCh37):g.63766544C>G *1526 *1526 NM_017670.2:c.*1526C>G p.? p.? 7 608337 1724 3' 78.1178 5.58465 0.170022 5.68936 78.1178 5.58465 0.170022 5.68936 0 rs148317844 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.001733 0.000541 0.001909 0.000412 0.000000 0.000219 0.003032 0.000318 0.001847 0.003032 338 10 52 3 0 5 254 5 9 195078 18486 27246 7284 14876 22840 83772 15700 4874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 338 10 52 3 0 5 254 5 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8037 4129 12166 27 3 30 0.00334821 0.000726041 0.00245982 0.00334821 0.000726041 0.00245982 11 transversion C G C>G 0.000 0.205 255 PASS 0.01 0.0037 0.0028 . 0.004 . 0.0008 . . 0.004 . . . . . . 0.5339806 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.0007 0.0025 0.0033 0.0007 0.0025 0.0033 . 0.6731 . . . . . . . . 1.308e-03 . . . 0.0006 0.0022 0.0014 0 0 0.0042 0 0.0003 0.0006 0.0021 0.0011 0 0 0.0034 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.34 0.37 182 . MACROD1 MACROD1 . . . . . . 95 0.00146208 64976 91 0.00151702 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs148317844 . . . . . . . . . . . . . . . . . . . . . . . 0.002460 . . . . . 0.0003 0.0018 0.0019 0.0003 0 0.0004 0.0032 0.0021 0.0002 0.0008 0.0014 0.0012 0.0033 0 0 0.0021 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs148317844 rs148317844 1 1538 10 1/0 0,255,255 +rs141444103 11 63996767 G A - DNAJC4 5271 DnaJ (Hsp40) homolog, subfamily C, member 4 NM_001307980.1 1 1341 750 NP_001294909.1 substitution upstream GRCh37 63996767 63996767 Chr11(GRCh37):g.63996767G>A -1560 -1560 NM_001307980.1:c.-1560G>A p.? p.? 1 604189 -1646 5' 83.6687 X.37 0.980982 14.0601 83.6687 X.37 0.980982 14.0601 0 rs141444103 yes no Frequency 1 G 0.000000 0 0.000118 0.000000 0.000000 0.000620 0.000000 0.000275 0.000122 0.000086 0.000000 0.000620 30 0 0 6 0 8 14 2 0 254446 21806 32250 9678 17510 29084 114934 23150 6034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 6 0 8 14 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4394 12985 1 0 1 0.000116387 0 7.7006e-05 0.000116387 0 7.7006e-05 40 transition G A G>A 1.000 5.290 255 PASS . . . . . . . . . . . . . . . . 0.46226415 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.751 . @ . . . . . 1 0.982 . . 106.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.5678 0.539 0.568 c . . . . . 7.118e-05 . . . 0 0.0002 0 0 0 0.0002 0 0.0003 0 0.0001 0 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.338 . . exonic exonic exonic . . 0.475 @ . . . 0.63 0.33 182 ENSG00000149761 NUDT22 NUDT22 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.372 0.016 . . 37 . 0.477 . . 0.484 . . . 0.761 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.399 . . 0 0 0 0 0 0 . 0.899 . . 0.667 . . . . . . 0 0.421 . . . . . 0.773 . 0.687 . HET 0.13 rs141444103 . . . . . . . . . . . . 15.7082 0.0 . IV.13 IV.13 . 0.070000 . . . . 0.000077 . 0.724 . . IV.13 0 0.0001 0 0.0004 0 0.0001 0.0001 0 0.0003 0 0.0001 0 0.0066 0 0 0.0001 0 . . 0.854 . 2.298 2.298000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.297 0.985 . 0.924 . 0.713 2.298 0.917 0.0001 . . rs141444103 rs141444103 1 1538 10 1/0 0,253,255 +rs141444103 11 63996767 G A - NUDT22 28189 Nudix (nucleoside diphosphate linked moiety X)-type motif 22 NM_001128612.2 1 996 912 NP_001122084.1 Q9BRQ3 substitution missense exon GRCh37 63996767 63996767 Chr11(GRCh37):g.63996767G>A 628 628 NM_001128612.2:c.628G>A p.Ala210Thr p.Ala210Thr 4 49 3' 78.9966 8.40597 0.87535 13.171 78.9966 8.40597 0.87535 XII.59 0 rs141444103 yes no Frequency 1 G 0.000000 0 0.000118 0.000000 0.000000 0.000620 0.000000 0.000275 0.000122 0.000086 0.000000 0.000620 30 0 0 6 0 8 14 2 0 254446 21806 32250 9678 17510 29084 114934 23150 6034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 6 0 8 14 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4394 12985 1 0 1 0.000116387 0 7.7006e-05 0.000116387 0 7.7006e-05 40 transition G A G>A 1.000 5.290 A Ala GCC 0.403 T Thr ACC 0.361 210 12 12 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C55 0.00 58.02 Deleterious 0 III.49 255 PASS . . . . . . . . . . . . . . . . 0.46226415 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.751 . @ . . . . . 1 0.982 . . 106.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.5678 0.539 0.568 c . . . . . 7.118e-05 . . . 0 0.0002 0 0 0 0.0002 0 0.0003 0 0.0001 0 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.338 . . exonic exonic exonic . . 0.475 @ . . . 0.63 0.33 182 ENSG00000149761 NUDT22 NUDT22 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.372 0.016 . . 37 . 0.477 . . 0.484 . . . 0.761 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.399 . . 0 0 0 0 0 0 . 0.899 . . 0.667 . . . . . . 0 0.421 . . . . . 0.773 . 0.687 . HET 0.13 rs141444103 . . . . . . . . . . . . 15.7082 0.0 . IV.13 IV.13 . 0.070000 . . . . 0.000077 . 0.724 . . IV.13 0 0.0001 0 0.0004 0 0.0001 0.0001 0 0.0003 0 0.0001 0 0.0066 0 0 0.0001 0 . . 0.854 . 2.298 2.298000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.297 0.985 . 0.924 . 0.713 2.298 0.917 0.0001 . . rs141444103 rs141444103 1 1538 10 1/0 0,253,255 +. 11 65113554 G GC - DPF2 9964 D4, zinc and double PHD fingers family 2 NM_006268.4 1 2530 1176 NP_006259.1 Q92785 duplication intron GRCh37 65113555 65113556 Chr11(GRCh37):g.65113555dup 904+26 904+26 NM_006268.4:c.904+26dup p.? p.? 8 8 601671 26 5' 71.8032 9.04236 0.847247 7.82877 71.8032 9.04236 0.847247 VIII.16 0 rs757092533 yes no Frequency 1 0.000000 0 0.001474 0.000042 0.000175 0.000990 0.000000 0.001400 0.002175 0.002294 0.002175 0.002294 407 1 6 10 0 43 274 59 14 276208 24018 34380 10098 18864 30722 125964 25724 6438 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 403 1 6 10 0 41 272 59 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8235 4263 12498 17 1 18 0.00206011 0.000234522 0.00143816 0.00206011 0.000234522 0.00143816 77 C 255 Pass . . . . . . . . . . . . . . . . 0.3611111 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36 . . INTRON(MODIFIER||||DPF2|mRNA|CODING|NM_006268|) 0.0002 0.0014 0.0021 0.0002 0.0014 0.0021 . . . . . . . . . . 1.389e-03 . . . 9.843e-05 0.0012 8.649e-05 0 0.0029 0.0016 0 0.0013 0.0002 0.0014 8.919e-05 0 0.0021 0.0019 0.0015 0.0014 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000133884 DPF2 DPF2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs757092533 . . . . . . . . . . . . . . . . . . . . . . . 0.001438 . . . . . 6.537e-05 0.0014 0.0002 0.0010 0 0.0022 0.0020 0.0016 0.0014 0 0.0022 0 0 0 0.0026 0.0036 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0021 . . . . 1 1538 10 1.I 0,11,44 +rs189188520 11 65384225 T C - PCNX3 18760 Pecanex homolog 3 (Drosophila) NM_032223.3 1 6566 6105 NP_115599.2 Q9H6A9 substitution intron GRCh37 65384225 65384225 Chr11(GRCh37):g.65384225T>C 154-70 154-70 NM_032223.3:c.154-70T>C p.? p.? 2 1 617657 -70 3' 91.6713 X.74 0.949843 7.78113 91.6713 X.74 0.949843 7.53134 0 rs189188520 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.005000 0.002900 0.003974 0.000574 0.002392 0.000000 0.000000 0.000000 0.005868 0.006010 0.007128 0.006010 123 5 2 0 0 0 88 21 7 30950 8718 836 302 1622 0 14996 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123 5 2 0 0 0 88 21 7 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition T C T>C 0.000 -1.005 255 PASS . 0.0014 . . 0.004 . 0.0018 0.0029 . 0.005 0.002 . . . . . 0.47058824 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . 0.8991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.34 0.23 182 ENSG00000197136 PCNXL3 PCNXL3 . . . . . . 228 0.00350899 64976 219 0.00365085 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189188520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0040 0.0024 0 0 0.0060 0.0059 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs189188520 rs189188520 1 1538 10 1/0 0,255,255 +. 11 65409144 A C - SIPA1 10885 Signal-induced proliferation-associated 1 NM_006747.3 1 3501 3129 NP_006738.3 Q96FS4 substitution intron GRCh37 65409144 65409144 Chr11(GRCh37):g.65409144A>C 679+73 679+73 NM_006747.3:c.679+73A>C p.? p.? 2 2 602180 73 5' 90.3122 9.15773 0.991914 9.45127 90.3122 9.15773 0.991914 IX.42 0 transversion A C A>C 0.055 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.48333332 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . 0.9625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000213445 SIPA1 SIPA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs371319164 11 65630546 A G - MUS81 29814 MUS81 structure-specific endonuclease subunit NM_001350283.1 1 2403 1659 NP_001337212.1 substitution missense exon GRCh37 65630546 65630546 Chr11(GRCh37):g.65630546A>G 616 616 NM_001350283.1:c.616A>G p.Thr206Ala p.Thr206Ala 7 606591 11 3' 85.4313 IX.02 0.924885 9.91678 85.4313 IX.02 0.928154 9.71651 0.00117816 rs371319164 yes no Frequency 1 A 0.000000 0 0.000047 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000039 0.000000 0.000095 13 0 0 0 0 0 12 1 0 277020 24008 34414 10152 18868 30782 126588 25748 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 0 0 0 0 12 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4402 12993 1 0 1 0.000116387 0 7.69586e-05 0.000116387 0 7.69586e-05 49 transition A G A>G 1.000 1.497 T Thr ACC 0.361 A Ala GCC 0.403 206 12 10 Baker's yeast 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . MUS81:uc001ofv.4:exon7:c.A616G:p.T206A MUS81:NM_025128:exon7:c.A616G:p.T206A . . 0.47692308 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.536 . @ . . . . . 1 0.734 . . 65.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.2921 0.182 0.292 c . . . . . 2.368e-05 . . . 0 3.344e-05 0 0 0 7.253e-05 0 0 0 1.896e-05 0 0 0 3.712e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.403 @ . . . 0.35 0.25 182 ENSG00000172732 MUS81 MUS81 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.435 0.021 . . 37 . 0.577 . . 0.557 . . . 0.904 0.444 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.789 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 2 0.912 . . . . . 0.336 . 0.548 . HET 0.01 rs371319164 . . . . . . . . . . . . VIII.95 0.0 . IV.78 III.61 . 0.120000 Q96NY9 . . . 0.000077 . 0.443 . . III.61 0 4.875e-05 0 0 0 4.493e-05 9.852e-05 0 0 0 3.238e-05 0 0 0 0 6.693e-05 0 . . 0.854 . 0.803 0.803000 . . 0.120000 . . 1.0E-255 0.997 0.399 . 0.175 0.601 . 0.469 . 0.960 0.803 1.062 0.0001 . . rs371319164 rs371319164 1 1538 10 1/0 0,255,255 +rs201696075 11 66103880 G A - BRMS1 17262 Breast cancer metastasis suppressor 1 NM_001024957.1 -1 1355 873 NP_001020128.1 substitution downstream GRCh37 66103880 66103880 Chr11(GRCh37):g.66103880G>A *1259 *1259 NM_001024957.1:c.*1259C>T p.? p.? 10 606259 1399 3' 88.2325 XI.53 0.977005 8.72183 88.2325 XI.53 0.977005 8.72183 0 rs201696075 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.002475 0.000216 0.001419 0.019134 0.000000 0.000942 0.002275 0.003819 0.003357 0.019134 663 5 48 190 0 28 278 93 21 267906 23150 33822 9930 18494 29710 122192 24352 6256 0.000060 0.000000 0.000118 0.001007 0.000000 0.000067 0.000000 0.000000 0.000000 8 0 2 5 0 1 0 0 0 647 5 44 180 0 26 278 93 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4392 12959 23 2 25 0.00267753 0.000455166 0.00192545 0.00267753 0.000455166 0.00192545 18 transition C T C>T 1.000 2.304 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.37974682 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . . 0.0005 0.0019 0.0027 0.0005 0.0019 0.0027 . II.38 . . . . . . . . 2.282e-03 . . . 0.0003 0.0027 0.0012 0 0.0058 0.0045 0.0037 0.0011 0.0003 0.0028 0.0013 0 0.0055 0.0042 0.0060 0.0011 . . . . . . ncRNA_exonic UTR5 UTR5 . . . 0.0006 . . . 0.73 0.68 182 ENSG00000254756 RIN1 RIN1 . . NM_004292:c.-7C>T . . . 114 0.00175449 64976 112 0.0018671 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201696075 . . . . . . . . . . . . . . . . . . . . . . . 0.001925 . . . . 3.VII 0.0002 0.0025 0.0014 0.0190 0 0.0036 0.0023 0.0036 0.0009 0.0002 0.0021 0.0036 0.0232 0 0.0052 0.0021 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs201696075 rs201696075 1 1538 10 1/0 0,255,255 +rs201696075 11 66103880 G A - RIN1 18749 Ras and Rab interactor 1 NM_004292.2 -1 2684 2352 NP_004283.2 Q13671 substitution 5'UTR GRCh37 66103880 66103880 Chr11(GRCh37):g.66103880G>A -7 -7 NM_004292.2:c.-7C>T p.? p.? 1 605965 -93 5' 77.6817 4.24218 0.687302 2.54224 77.6817 4.24218 0.687302 2.54224 0 rs201696075 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.002475 0.000216 0.001419 0.019134 0.000000 0.000942 0.002275 0.003819 0.003357 0.019134 663 5 48 190 0 28 278 93 21 267906 23150 33822 9930 18494 29710 122192 24352 6256 0.000060 0.000000 0.000118 0.001007 0.000000 0.000067 0.000000 0.000000 0.000000 8 0 2 5 0 1 0 0 0 647 5 44 180 0 26 278 93 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4392 12959 23 2 25 0.00267753 0.000455166 0.00192545 0.00267753 0.000455166 0.00192545 18 transition C T C>T 1.000 2.304 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.37974682 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . . 0.0005 0.0019 0.0027 0.0005 0.0019 0.0027 . II.38 . . . . . . . . 2.282e-03 . . . 0.0003 0.0027 0.0012 0 0.0058 0.0045 0.0037 0.0011 0.0003 0.0028 0.0013 0 0.0055 0.0042 0.0060 0.0011 . . . . . . ncRNA_exonic UTR5 UTR5 . . . 0.0006 . . . 0.73 0.68 182 ENSG00000254756 RIN1 RIN1 . . NM_004292:c.-7C>T . . . 114 0.00175449 64976 112 0.0018671 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201696075 . . . . . . . . . . . . . . . . . . . . . . . 0.001925 . . . . 3.VII 0.0002 0.0025 0.0014 0.0190 0 0.0036 0.0023 0.0036 0.0009 0.0002 0.0021 0.0036 0.0232 0 0.0052 0.0021 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs201696075 rs201696075 1 1538 10 1/0 0,255,255 +rs377284465 11 66239788 T A - PELI3 30010 Pellino E3 ubiquitin protein ligase family member 3 NM_145065.2 1 2744 1410 NP_659502.2 Q8N2H9 substitution intron GRCh37 66239788 66239788 Chr11(GRCh37):g.66239788T>A 355-52 355-52 NM_145065.2:c.355-52T>A p.? p.? 5 4 609827 -52 3' 89.1686 9.94177 0.948259 8.83971 89.1686 9.94177 0.948259 8.63221 0 rs377284465 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.001455 0.000000 0.000000 0.000000 0.000000 0.000000 0.001670 0.005158 0.002049 0.005158 45 0 0 0 0 0 25 18 2 30920 8724 838 302 1618 0 14972 3490 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 0 0 0 0 0 25 18 2 0 0 0 0 0 0 0 0 0 PASS 39 Genomes 3969 1746 5715 3 0 3 0.000755287 0 0.000524659 0.000755287 0 0.000524659 30 transversion T A T>A 0.000 -0.279 255 PASS . . . . . . 0.0004 . . 0.001 0.001 . . . . . 0.5677966 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.1194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.41 0.2 182 ENSG00000174516 PELI3 PELI3 . . . . . . 38 0.000584831 64976 36 0.00060014 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs377284465 . . . . . . . . . . . . . . . . . . . . . . . 0.000525 . . . . . . . . . . . . . . 0 0.0015 0 0 0 0.0052 0.0017 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs377284465 rs377284465 1 1538 10 1/0 0,252,255 +rs148080813 11 66332390 T C - ACTN3 165 Actinin, alpha 3 (gene/pseudogene) NM_001258371.2 1 3087 2835 NP_001245300.2 substitution downstream GRCh37 66332390 66332390 Chr11(GRCh37):g.66332390T>C *1726 *1726 NM_001258371.2:c.*1726T>C p.? p.? 21 102574 1885 3' 83.8822 8.44019 0.981263 XI.93 83.8822 8.44019 0.981263 XI.93 0 rs148080813 yes no Frequency 1 T uncertain_significance 0.000000 0 0.000174 0.000125 0.000000 0.000000 0.000000 0.000164 0.000319 0.000000 0.000000 0.000319 48 3 0 0 0 5 40 0 0 275072 24020 34280 9940 18864 30406 125524 25622 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 3 0 0 0 5 40 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4399 12986 3 1 4 0.000349243 0.000227273 0.000307929 0.000349243 0.000227273 0.000307929 149 RCV000372587.1 germline clinical testing VUS 1 not specified transition T C T>C 1.000 3.757 255 PASS . . . . . . . . . . . ENSG00000174080:ENST00000310325:exon9:c.A1133G:p.N378S CTSF:uc001oip.3:exon9:c.A1133G:p.N378S CTSF:NM_003793:exon9:c.A1133G:p.N378S . . 0.55 . . germline 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.524 . Uncertain//\@significance Uncertain_significance RCV000372587.1 not_specified MedGen CN169374 1 0.882 . . 80.0 . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . 0.1881 0.285 0.188 c . . . . . 2.368e-04 . . . 0.0002 0.0002 0 0 0 0.0003 0 0.0003 0.0002 0.0003 0 0 0 0.0004 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.864 . . exonic exonic exonic . . 0.555 @ . . . 0.47 0.53 182 ENSG00000174080 CTSF CTSF . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.763 0.094 . . 37 . 0.790 . . 0.757 . . . 0.162 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.420 . . 0.483 . . . . . . 3 0.290 . . . . . 0.534 . 0.120 . HET 0.14 rs148080813 . . . . . . . . . . . . 12.1886 2.68E-4 ENST00000310325 IV.56 IV.56 . 0.470000 Q9UBX1 . . . 0.000308 . 0.697 . . IV.56 0.0001 0.0002 0 0 0 0 0.0003 0 0.0002 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . 2.054 2.054000 . . 0.470000 . . 1.0E-255 1.000 0.715 . 0.474 0.977 . 0.654 . 0.580 2.054 0.991 0.0003 . . rs148080813 rs148080813 1 1538 10 1/0 0,255,255 +rs148080813 11 66332390 T C - CTSF 2531 Cathepsin F NM_003793.3 -1 2014 1455 NP_003784.2 Q9UBX1 substitution missense exon GRCh37 66332390 66332390 Chr11(GRCh37):g.66332390T>C 1133 1133 NM_003793.3:c.1133A>G p.Asn378Ser p.Asn378Ser 9 603539 -33 5' 74.2342 7.35828 0.908087 XI.01 74.2342 7.35828 0.908087 XI.25 0 Peptidase C1A, papain C-terminal rs148080813 yes no Frequency 1 T uncertain_significance 0.000000 0 0.000174 0.000125 0.000000 0.000000 0.000000 0.000164 0.000319 0.000000 0.000000 0.000319 48 3 0 0 0 5 40 0 0 275072 24020 34280 9940 18864 30406 125524 25622 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 3 0 0 0 5 40 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4399 12986 3 1 4 0.000349243 0.000227273 0.000307929 0.000349243 0.000227273 0.000307929 149 RCV000372587.1 germline clinical testing VUS 1 not specified transition A G A>G 1.000 3.757 N Asn AAT 0.464 S Ser AGT 0.149 378 11 8 C. elegans 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 221.07 0.00 Tolerated 0.33 III.23 good 1.267E-1 0.0126 255 PASS . . . . . . . . . . . ENSG00000174080:ENST00000310325:exon9:c.A1133G:p.N378S CTSF:uc001oip.3:exon9:c.A1133G:p.N378S CTSF:NM_003793:exon9:c.A1133G:p.N378S . . 0.55 . . germline 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.524 . Uncertain//\@significance Uncertain_significance RCV000372587.1 not_specified MedGen CN169374 1 0.882 . . 80.0 . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . 0.1881 0.285 0.188 c . . . . . 2.368e-04 . . . 0.0002 0.0002 0 0 0 0.0003 0 0.0003 0.0002 0.0003 0 0 0 0.0004 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.864 . . exonic exonic exonic . . 0.555 @ . . . 0.47 0.53 182 ENSG00000174080 CTSF CTSF . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.763 0.094 . . 37 . 0.790 . . 0.757 . . . 0.162 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.420 . . 0.483 . . . . . . 3 0.290 . . . . . 0.534 . 0.120 . HET 0.14 rs148080813 . . . . . . . . . . . . 12.1886 2.68E-4 ENST00000310325 IV.56 IV.56 . 0.470000 Q9UBX1 . . . 0.000308 . 0.697 . . IV.56 0.0001 0.0002 0 0 0 0 0.0003 0 0.0002 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . 2.054 2.054000 . . 0.470000 . . 1.0E-255 1.000 0.715 . 0.474 0.977 . 0.654 . 0.580 2.054 0.991 0.0003 . . rs148080813 rs148080813 1 1538 10 1/0 0,255,255 +. 11 66391415 CCTT C - RBM14 14219 RNA binding motif protein 14 NM_006328.3 1 5415 2010 NP_006319.1 Q96PK6 deletion intron GRCh37 66391421 66391423 Chr11(GRCh37):g.66391421_66391423del 338-264 338-262 NM_006328.3:c.338-264_338-262del p.? p.? 2 1 612409 -262 3' 82.2147 VI.56 0.878468 X.23 82.2147 VI.56 0.878468 X.23 0 rs761515226 yes no Frequency 1 0.000000 0 0.000240 0.001441 0.000040 0.000000 0.000000 0.000841 0.000000 0.000000 0.000000 0.001441 42 22 1 0 0 19 0 0 0 174912 15270 24710 8406 11772 22598 67230 20158 4768 0.000011 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 40 22 1 0 0 17 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TCT 255 Pass . . . . . . . . . . . ENSG00000239306:ENST00000409372:exon2:c.382_384del:p.128_128del . . . . 0.53846157 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 65 . . . . . . . . . . . . . . . . . . . 1.910e-04 . . . 0.0011 0.0004 0 0 0 0 0 0.0007 0 0.0004 0 0 0 0 0 0.0007 nonframeshift_deletion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000239306 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs761515226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0002 4.189e-05 0 0 0 0 0 0.0008 0.0013 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,27 +. 11 66391415 CCTT C - RBM14-RBM4 38840 RBM14-RBM4 readthrough NM_001198845.1 1 1614 1020 NP_001185774.1 deletion intron GRCh37 66391421 66391423 Chr11(GRCh37):g.66391421_66391423del 337+6893 337+6895 NM_001198845.1:c.337+6893_337+6895del p.? p.? 1 1 6893 5' 81.9786 X.32 0.917025 15.8049 81.9786 X.32 0.917025 15.8049 0 rs761515226 yes no Frequency 1 0.000000 0 0.000240 0.001441 0.000040 0.000000 0.000000 0.000841 0.000000 0.000000 0.000000 0.001441 42 22 1 0 0 19 0 0 0 174912 15270 24710 8406 11772 22598 67230 20158 4768 0.000011 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 40 22 1 0 0 17 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TCT 255 Pass . . . . . . . . . . . ENSG00000239306:ENST00000409372:exon2:c.382_384del:p.128_128del . . . . 0.53846157 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 65 . . . . . . . . . . . . . . . . . . . 1.910e-04 . . . 0.0011 0.0004 0 0 0 0 0 0.0007 0 0.0004 0 0 0 0 0 0.0007 nonframeshift_deletion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000239306 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs761515226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0002 4.189e-05 0 0 0 0 0 0.0008 0.0013 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,27 +rs200571152 11 66393177 C T - RBM14 14219 RNA binding motif protein 14 NM_006328.3 1 5415 2010 NP_006319.1 Q96PK6 substitution intron GRCh37 66393177 66393177 Chr11(GRCh37):g.66393177C>T 1802+28 1802+28 NM_006328.3:c.1802+28C>T p.? p.? 2 2 612409 28 5' 71.4965 8.55816 0.875726 9.66105 71.4965 8.55816 0.875726 9.20969 0 rs200571152 yes no Frequency 1 C 0.000000 0 0.000559 0.000044 0.000000 0.000000 0.000000 0.000000 0.000728 0.002806 0.000562 0.002806 127 1 0 0 0 0 77 46 3 227296 22756 29060 6228 17802 23896 105826 16394 5334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127 1 0 0 0 0 77 46 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8142 4102 12244 2 0 2 0.00024558 0 0.000163319 0.00024558 0 0.000163319 14 transition C T C>T 1.000 3.030 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.28 . . . . . . . . 5.891e-04 . . . 0 0.0005 0 0 0.0041 0.0007 0.0022 0 0.0002 0.0007 0 0 0.0043 0.0008 0.0047 0 . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.37 182 . . . . . . . . . 27 0.000415538 64976 27 0.000450105 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200571152 . . . . . . . . . . . . . . . . . . . . . . . 0.000163 . . . . V.22 7.132e-05 0.0005 0 0 0 0.0025 0.0007 0.0005 0 0 0.0010 0 0 0 0.0040 0.0010 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs200571152 rs200571152 1 1538 10 1/0 0,255,255 +rs200571152 11 66393177 C T - RBM14-RBM4 38840 RBM14-RBM4 readthrough NM_001198845.1 1 1614 1020 NP_001185774.1 substitution intron GRCh37 66393177 66393177 Chr11(GRCh37):g.66393177C>T 337+8649 337+8649 NM_001198845.1:c.337+8649C>T p.? p.? 1 1 8649 5' 81.9786 X.32 0.917025 15.8049 81.9786 X.32 0.917025 15.8049 0 rs200571152 yes no Frequency 1 C 0.000000 0 0.000559 0.000044 0.000000 0.000000 0.000000 0.000000 0.000728 0.002806 0.000562 0.002806 127 1 0 0 0 0 77 46 3 227296 22756 29060 6228 17802 23896 105826 16394 5334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127 1 0 0 0 0 77 46 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8142 4102 12244 2 0 2 0.00024558 0 0.000163319 0.00024558 0 0.000163319 14 transition C T C>T 1.000 3.030 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.28 . . . . . . . . 5.891e-04 . . . 0 0.0005 0 0 0.0041 0.0007 0.0022 0 0.0002 0.0007 0 0 0.0043 0.0008 0.0047 0 . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.37 182 . . . . . . . . . 27 0.000415538 64976 27 0.000450105 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200571152 . . . . . . . . . . . . . . . . . . . . . . . 0.000163 . . . . V.22 7.132e-05 0.0005 0 0 0 0.0025 0.0007 0.0005 0 0 0.0010 0 0 0 0.0040 0.0010 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs200571152 rs200571152 1 1538 10 1/0 0,255,255 +. 11 67219068 C CAGCTGTGG - CABP4 1386 Calcium binding protein 4 NM_145200.3 1 4020 828 NP_660201.1 P57796 duplication upstream GRCh37 67219076 67219077 Chr11(GRCh37):g.67219069_67219076dup -3826 -3819 NM_145200.3:c.-3826_-3819dup p.? p.? 1 608965 -4184 5' 84.7989 6.06132 0.653261 8.18709 84.7989 6.06132 0.653261 8.18709 0 rs745593287 yes no Frequency 1 0.000000 0 0.001042 0.000083 0.000174 0.000592 0.000000 0.001007 0.001133 0.003601 0.001240 0.003601 288 2 6 6 0 31 143 92 8 276426 23984 34414 10138 18862 30778 126252 25548 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 286 2 6 6 0 29 143 92 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8246 4264 12510 8 0 8 0.000969227 0 0.00063908 0.000969227 0 0.00063908 52 AGCTGTGG 255 Pass . . . . . . . . . . . ENSG00000175514:ENST00000312457:exon1:c.1127_1128insCCACAGCT:p.L376fs GPR152:uc001olm.3:exon1:c.1127_1128insCCACAGCT:p.L376fs GPR152:NM_206997:exon1:c.1127_1128insCCACAGCT:p.L376fs . . 0.3131313 . . . 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 198 . . . . 0.0006 0.001 . 0.0006 0.001 . . . . . . . . . . 1.074e-03 . . . 9.739e-05 0.0008 8.679e-05 0 0.0039 0.0010 0.0042 0.0009 0.0001 0.0010 8.938e-05 0 0.0039 0.0011 0.0058 0.0009 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175514 GPR152 GPR152 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs745593287 . . . . . . . . . . . . . . . . . . . . . . . 0.000639 . . . . . 0.0001 0.0010 0.0002 0.0006 0 0.0034 0.0011 0.0011 0.0010 0 0.0014 0 0 0 0.0052 0.0015 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.001 . . . . 1 1538 10 1.I 0,11,50 +. 11 67219068 C CAGCTGTGG - GPR152 23622 G protein-coupled receptor 152 NM_206997.1 -1 1429 1413 NP_996880.1 Q8TDT2 duplication frameshift exon GRCh37 67219068 67219069 Chr11(GRCh37):g.67219069_67219076dup 1120 1127 NM_206997.1:c.1120_1127dup p.Asn377Hisfs*3 p.Asn377Hisfs*3 1 rs745593287 yes no Frequency 1 0.000000 0 0.001042 0.000083 0.000174 0.000592 0.000000 0.001007 0.001133 0.003601 0.001240 0.003601 288 2 6 6 0 31 143 92 8 276426 23984 34414 10138 18862 30778 126252 25548 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 286 2 6 6 0 29 143 92 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8246 4264 12510 8 0 8 0.000969227 0 0.00063908 0.000969227 0 0.00063908 52 CCACAGCT 255 Pass . . . . . . . . . . . ENSG00000175514:ENST00000312457:exon1:c.1127_1128insCCACAGCT:p.L376fs GPR152:uc001olm.3:exon1:c.1127_1128insCCACAGCT:p.L376fs GPR152:NM_206997:exon1:c.1127_1128insCCACAGCT:p.L376fs . . 0.3131313 . . . 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 198 . . . . 0.0006 0.001 . 0.0006 0.001 . . . . . . . . . . 1.074e-03 . . . 9.739e-05 0.0008 8.679e-05 0 0.0039 0.0010 0.0042 0.0009 0.0001 0.0010 8.938e-05 0 0.0039 0.0011 0.0058 0.0009 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175514 GPR152 GPR152 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs745593287 . . . . . . . . . . . . . . . . . . . . . . . 0.000639 . . . . . 0.0001 0.0010 0.0002 0.0006 0 0.0034 0.0011 0.0011 0.0010 0 0.0014 0 0 0 0.0052 0.0015 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.001 . . . . 1 1538 10 1.I 0,11,50 +. 11 67400419 C T - TBX10 11593 T-box 10 NM_005995.4 -1 1548 1158 NP_005986.2 O75333 substitution synonymous exon GRCh37 67400419 67400419 Chr11(GRCh37):g.67400419C>T 705 705 NM_005995.4:c.705G>A p.Arg235= p.Arg235Arg 5 604648 -1 5' 76.2896 5.36998 0.442569 5.22141 64.1535 1.309 0.004139 2.12814 -0.635321 Transcription factor, T-box transition G A G>A 1.000 5.048 R Arg AGG 0.207 R Arg AGA 0.205 235 255 PASS . . . . . . . . . . . ENSG00000167800:ENST00000335385:exon5:c.G705A:p.R235R TBX10:uc001omp.3:exon5:c.G705A:p.R235R TBX10:NM_005995:exon5:c.G705A:p.R235R . . 0.51744187 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167800 TBX10 TBX10 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.992 . . . . . . 4.V . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,245 +. 11 67412204 C CAC - ACY3 24104 Aspartoacylase (aminocyclase) 3 NM_080658.1 -1 1300 960 NP_542389.1 Q96HD9 duplication intron GRCh37 67412203 67412204 Chr11(GRCh37):g.67412204_67412205dup 744+26 744+27 NM_080658.1:c.744+26_744+27dup p.? p.? 7 7 614413 27 5' 85.464 6.99123 0.889162 6.11083 85.464 6.99123 0.889162 6.31557 0 New Donor Site 67412202 0.425381 0.003743 68.9725 rs773003452 no no 0 0.000000 0 0.595647 0.489400 0.606300 0.615100 0.644100 0.684400 0.496285 0.381937 0.485306 0.486016 0.512447 0.481301 0.534974 0.486282 0.513695 0.534974 67323 5561 9512 2989 5064 8108 28788 5388 1913 135654 14560 19600 6150 9882 16846 53812 11080 3724 0.095198 0.105495 0.029694 0.043252 0.099575 0.018521 0.146733 0.081047 0.118153 6457 768 291 133 492 156 3948 449 220 30872 1099 5479 1754 2689 4683 12362 1973 833 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3882 2644 6526 3866 1306 5172 0.498967 0.330633 0.442127 0.498967 0.330633 0.442127 22 TG 255 Pass . . . . . . . . . . . . . . . . 0.7647059 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . INTRON(MODIFIER||||ACY3|mRNA|CODING|NM_080658|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000132744 ACY3 ACY3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,12 +rs367850547 (chr11:67490651 A/G) 11 67490651 A G Not on a known gene +rs775339882 (chr11:67490658 G/A) 11 67490658 G A Not on a known gene +. (chr11:67490698 C/G) 11 67490698 C G Not on a known gene +. (chr11:67490699 T/A) 11 67490699 T A Not on a known gene +rs771745534 11 68527719 C A - CPT1A 2328 Carnitine palmitoyltransferase 1A NM_001876.3 -1 5253 2322 NP_001867.2 P50416 substitution missense exon GRCh37 68527719 68527719 Chr11(GRCh37):g.68527719C>A 2116 2116 NM_001876.3:c.2116G>T p.Val706Leu p.Val706Leu 17 600528 -27 5' 86.7234 X.83 0.993197 13.1899 86.7234 X.83 0.993197 XII.94 0 Acyltransferase ChoActase/COT/CPT transversion G T G>T 0.992 3.999 V Val GTG 0.468 L Leu TTG 0.127 706 13 8 Zebrafish 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.2 III.45 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.4848485 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.470 . @ . . . . . 1 0.284 . . 33.0 . . . . . . . . . . -0.1689 -0.014 -0.169 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.881 . . exonic exonic exonic . . 0.608 @ . . . . . . ENSG00000110090 CPT1A CPT1A . . . 0.999 0.370 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.598 0.041 . . 37 . 0.826 . . 0.760 . . . 0.192 0.520 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.391 . . 0 0 0 0 0 0 . 0.156 . . 0.234 . . . . . . 0 0.110 . . . . . 0.657 . 0.340 . HET 0.47 . . . . . . . . . . . . . 14.2969 . . IV.79 IV.79 . 0.550000 . . . . . . 0.604 . . IV.79 . . . . . . . . . . . . . . . . . . . 0.609 . 2.653 2.653000 . . 0.550000 . . 1.0E-255 0.983 0.354 . 0.212 0.958 . 0.463 . 0.432 2.653 0.871 . . . . . 1 1538 10 1/0 0,255,255 +. 11 70002184 TAT T - ANO1 21625 Anoctamin 1, calcium activated chloride channel NM_018043.5 1 4807 2961 NP_060513.5 Q5XXA6 deletion intron GRCh37 70002185 70002186 Chr11(GRCh37):g.70002185_70002186del 1503+91 1503+92 NM_018043.5:c.1503+91_1503+92del p.? p.? 15 15 610108 91 5' 64.1828 3.1876 0.368307 0 64.1828 3.1876 0.368307 0 0 rs368393737 yes no Frequency 1 0.000000 0 0.000081 0.000137 0.000000 0.000000 0.000000 0.000000 0.000083 0.000000 0.000000 0.000137 2 1 0 0 0 0 1 0 0 24646 7292 626 268 1046 0 12056 2620 738 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 55 Genomes AT 255 Pass . . . . . . . . . . . . . . . . 0.47916666 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000131620 ANO1 ANO1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,32 +rs7950441 11 71184678 A C - MIR6754 50203 MicroRNA 6754 NR_106812.1 1 66 0 substitution downstream GRCh37 71184678 71184678 Chr11(GRCh37):g.71184678A>C *64 *64 NR_106812.1:n.*64A>C p.? p.? 1 rs7950441 yes no Frequency/HapMap/1000G 3 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999989 0.999958 1.000000 1.000000 1.000000 0.999968 0.999992 1.000000 1.000000 1.000000 276371 23957 34406 10120 18828 30761 126079 25778 6442 276374 23958 34406 10120 18828 30762 126080 25778 6442 0.999978 0.999916 1.000000 1.000000 1.000000 0.999935 0.999984 1.000000 1.000000 138184 11978 17203 5060 9414 15380 63039 12889 3221 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4146261|COSM4146261 Upper aerodigestive tract|Thyroid 0.018489|0.001339 1244|747 transversion A C A>C 0.992 0.044 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . NADSYN1:uc001oqn.3:exon8:c.A612C:p.Q204H NADSYN1:NM_018161:exon8:c.A612C:p.Q204H . . 1.0 . . @ 175 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.004 . . 175.0 . . . . . . . . . . -1.5092 -1.236 -1.509 c . . . . . 1.000 . . . 1 1.0000 1 1 1 1 1 0.9999 1 1.0000 1 1 1 1 1 0.9999 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.192 0.0000 . . . 0.36 0.1 182 ENSG00000172890 NADSYN1 NADSYN1 . . . 0.314 0.193 . . . . . . . Benign . 0 . 0.843 . . . . . . . . . 37 . 0.000 . . 0.421 . . . 0.000 0.182 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.087 . 0.447 . HOM 1 rs7950441 1.000 1.000 . . . . . 1.0 1.0 1.0 1.0 1.0 III.35 . ENST00000319023 IV.99 1.V . 1.000000 Q6IA69 . . . . . 0.198 . . . 1 1.0000 1 1 1 1 1.0000 1 1.0000 0.9999 1.0000 1 1 1 1 1 1 . . 0.730 . -0.053 -0.053000 . . 1.000000 . . 1.0E-111 0.838 0.300 . 0.418 0.998 . 0.096 . 0.057 -0.053 0.005 1. rs7950441 rs7950441 rs7950441 rs7950441 1 1538 255 1.I 0,0,255 +rs7950441 11 71184678 A C - NADSYN1 29832 NAD synthetase 1 NM_018161.4 1 2433 2121 NP_060631.2 Q6IA69 substitution missense exon GRCh37 71184678 71184678 Chr11(GRCh37):g.71184678A>C 612 612 NM_018161.4:c.612A>C p.Gln204His p.Gln204His 8 608285 -55 5' 84.5939 VIII.53 0.946414 IX.12 84.5939 VIII.53 0.946414 10.0902 0 Cryptic Acceptor Strongly Activated 71184692 1,00E-06 0.712612 5,00E-06 60.4267 Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase Glutamine-dependent NAD(+) synthetase rs7950441 yes no Frequency/HapMap/1000G 3 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999989 0.999958 1.000000 1.000000 1.000000 0.999968 0.999992 1.000000 1.000000 1.000000 276371 23957 34406 10120 18828 30761 126079 25778 6442 276374 23958 34406 10120 18828 30762 126080 25778 6442 0.999978 0.999916 1.000000 1.000000 1.000000 0.999935 0.999984 1.000000 1.000000 138184 11978 17203 5060 9414 15380 63039 12889 3221 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4146261|COSM4146261 Upper aerodigestive tract|Thyroid 0.018489|0.001339 1244|747 transversion A C A>C 0.992 0.044 Q Gln CAA 0.256 H His CAC 0.587 204 13 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 100.90 0.00 Tolerated 1 III.47 good 9.985E-1 0.008862 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . NADSYN1:uc001oqn.3:exon8:c.A612C:p.Q204H NADSYN1:NM_018161:exon8:c.A612C:p.Q204H . . 1.0 . . @ 175 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.004 . . 175.0 . . . . . . . . . . -1.5092 -1.236 -1.509 c . . . . . 1.000 . . . 1 1.0000 1 1 1 1 1 0.9999 1 1.0000 1 1 1 1 1 0.9999 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.192 0.0000 . . . 0.36 0.1 182 ENSG00000172890 NADSYN1 NADSYN1 . . . 0.314 0.193 . . . . . . . Benign . 0 . 0.843 . . . . . . . . . 37 . 0.000 . . 0.421 . . . 0.000 0.182 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.087 . 0.447 . HOM 1 rs7950441 1.000 1.000 . . . . . 1.0 1.0 1.0 1.0 1.0 III.35 . ENST00000319023 IV.99 1.V . 1.000000 Q6IA69 . . . . . 0.198 . . . 1 1.0000 1 1 1 1 1.0000 1 1.0000 0.9999 1.0000 1 1 1 1 1 1 . . 0.730 . -0.053 -0.053000 . . 1.000000 . . 1.0E-111 0.838 0.300 . 0.418 0.998 . 0.096 . 0.057 -0.053 0.005 1. rs7950441 rs7950441 rs7950441 rs7950441 1 1538 255 1.I 0,0,255 +rs200157238 11 73499081 C G - MRPL48 16653 Mitochondrial ribosomal protein L48 NM_001318499.1 1 1103 762 NP_001305428.1 substitution intron GRCh37 73499081 73499081 Chr11(GRCh37):g.73499081C>G 21+44 21+44 NM_001318499.1:c.21+44C>G p.? p.? 1 1 611853 44 5' 81.9786 X.32 0.900836 8.35617 81.9786 X.32 0.900836 8.99287 0 rs200157238 yes no Frequency/1000G 2 C 0.000000 0 0.036142 0.010600 0.065400 0.014900 0.057700 0.043200 0.000008 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000000 0.000067 2 0 0 0 0 2 0 0 0 239276 14904 32392 9562 17012 29954 108350 21828 5274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 56 Exomes 8097 3972 12069 205 42 247 0.0246928 0.0104634 0.0200552 0.0246928 0.0104634 0.0200552 25 transversion C G C>G 0.008 0.044 211 PASS . . . . . 0.011 0.036 0.043 0.015 0.058 0.065 . . . . . 0.15231788 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . INTRON(MODIFIER||||MRPL48|mRNA|CODING|NM_016055|) 0.011 0.02 0.025 0.011 0.02 0.025 . 0.3721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0361 . . . 0.4 0.39 182 ENSG00000175581 MRPL48 MRPL48 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200157238 . . . . . . . . . . . . . . . . . . . . . . . 0.020055 . . . . . 0 8.359e-06 0 0 0 0 0 0 6.677e-05 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.025 . . rs200157238 rs200157238 1 1538 10 1/0 0,237,255 +rs572204787 11 73499106 G C - MRPL48 16653 Mitochondrial ribosomal protein L48 NM_001318499.1 1 1103 762 NP_001305428.1 substitution intron GRCh37 73499106 73499106 Chr11(GRCh37):g.73499106G>C 21+69 21+69 NM_001318499.1:c.21+69G>C p.? p.? 1 1 611853 69 5' 81.9786 X.32 0.900836 8.35617 81.9786 X.32 0.900836 VIII.38 0 rs572204787 no no 0 G 0.000000 0 transversion G C G>C 0.000 0.286 249 PASS . . . . . . . . . . . . . . . . 0.3028169 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . INTRON(MODIFIER||||MRPL48|mRNA|CODING|NM_016055|) . . . . . . . 0.8981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000175581 MRPL48 MRPL48 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs572204787 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,229,255 +rs770072205 11 73499116 C A - MRPL48 16653 Mitochondrial ribosomal protein L48 NM_001318499.1 1 1103 762 NP_001305428.1 substitution intron GRCh37 73499116 73499116 Chr11(GRCh37):g.73499116C>A 21+79 21+79 NM_001318499.1:c.21+79C>A p.? p.? 1 1 611853 79 5' 81.9786 X.32 0.900836 8.35617 81.9786 X.32 0.900836 8.77014 0 rs770072205 no no 0 C 0.000000 0 transversion C A C>A 0.000 -0.037 231 PASS . . . . . . . . . . . . . . . . 0.24475524 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . INTRON(MODIFIER||||MRPL48|mRNA|CODING|NM_016055|) . . . . . . . 0.8573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000175581 MRPL48 MRPL48 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs770072205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs773367700 11 73499123 G A - MRPL48 16653 Mitochondrial ribosomal protein L48 NM_001318499.1 1 1103 762 NP_001305428.1 substitution intron GRCh37 73499123 73499123 Chr11(GRCh37):g.73499123G>A 21+86 21+86 NM_001318499.1:c.21+86G>A p.? p.? 1 1 611853 86 5' 81.9786 X.32 0.900836 8.35617 81.9786 X.32 0.900836 8.35617 0 rs773367700 no no 0 G 0.000000 0 transition G A G>A 0.000 0.690 221 PASS . . . . . . . . . . . . . . . . 0.21582733 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||MRPL48|mRNA|CODING|NM_016055|) . . . . . . . 0.8924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000175581 MRPL48 MRPL48 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773367700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs577905843 11 75897705 T C - WNT11 12776 Wingless-type MMTV integration site family, member 11 NM_004626.2 -1 1927 1065 NP_004617.2 O96014 substitution 3'UTR GRCh37 75897705 75897705 Chr11(GRCh37):g.75897705T>C *404 *404 NM_004626.2:c.*404A>G p.? p.? 5 603699 579 3' 69.5909 7.01215 0.656828 9.12305 69.5909 7.01215 0.656828 9.12305 0 rs577905843 yes no Frequency/1000G 2 T 0.000599 C 3 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.000097 0.000115 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000133 3 1 0 0 0 0 2 0 0 30918 8716 838 302 1618 0 14990 3478 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transition A G A>G 0.000 -0.763 247 PASS . . . . . . 0.0006 . . 0.002 0.001 . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . UTR_3_PRIME(MODIFIER||||WNT11|mRNA|CODING|NM_004626|NM_004626.ex.5) . . . . . . . -0.0319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0006 . . . . . . ENSG00000085741 WNT11 WNT11 ENST00000322563:c.*404A>G . NM_004626:c.*404A>G . . . 37 0.000569441 64976 34 0.000566799 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs577905843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 9.703e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs35409987 11 76062335 G A - THAP12 9440 THAP domain containing 12 NM_004705.3 -1 3323 2286 NP_004696.2 O43422 substitution missense exon GRCh37 76062335 76062335 Chr11(GRCh37):g.76062335G>A 1859 1859 NM_004705.3:c.1859C>T p.Ser620Leu p.Ser620Leu 5 607374 1504 3' 92.6373 VIII.13 0.883106 X.01 92.6373 VIII.13 0.883106 X.01 0 Ribonuclease H-like domain rs35409987 yes no Frequency/1000G 2 G 0.000000 0 0.026557 0.058200 0.014300 0.016900 0.005000 0.028800 0.000721 0.001519 0.002065 0.001095 0.000921 0.000495 0.000384 0.000083 0.000344 0.002065 180 32 61 9 16 13 45 2 2 249574 21072 29536 8216 17374 26266 117098 24200 5812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 180 32 61 9 16 13 45 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5414444|COSM5414444|COSM5414444 Thyroid|Stomach|Haematopoietic and lymphoid tissue 0.001339|0.001161|0.000850 747|861|3530 transition C T C>T 0.220 2.062 S Ser TCG 0.056 L Leu TTG 0.127 620 -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 183 PASS . . . . . 0.058 0.027 0.029 0.017 0.005 0.014 ENSG00000137492:ENST00000260045:exon5:c.C1859T:p.S620L . PRKRIR:NM_004705:exon5:c.C1859T:p.S620L . . 0.11956522 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.290 . @ . . . . . 1 0.473 . . 92.0 . . . . . . . . . . -0.0526 0.108 -0.053 c . . . . . 1.895e-04 . . . 0.0003 0.0002 0 0 0 9.99e-05 0 0.0008 0.0001 0.0001 0 0.0001 0 7.65e-05 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.252 . . exonic exonic exonic . . 0.756 0.0266 . . . 0.67 0.51 182 ENSG00000137492 PRKRIR PRKRIR . . . 0.028 0.139 . . . . . . . Uncertain_significance . 0 . 0.372 . . . . . . . . . 37 . 0.200 . . 0.106 . . . 0.404 0.229 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.425 . . 0 0 0 0 0 0 . 0.272 . . 0.139 . . . . . . 0 0.421 . . . . . 0.718 . 0.491 . LowAF 0.02 rs35409987 . . . . . . . . . . . . 15.0947 . . V.33 V.33 . 0.350000 O43422 . . Name\x3dnsv521451 . . 0.409 . . V.33 0.0004 0.0007 0.0021 0.0011 0.0008 4.799e-05 0.0004 0.0004 0.0005 0.0038 0.0013 0.0013 0 0.0022 0.0003 0.0003 0 . . 0.924 . 2.713 2.713000 . . 0.350000 . . 1.0E-183 0.185 0.239 . 0.146 0.979 . 0.461 . 0.211 2.713 0.917 . rs35409987 rs35409987 rs35409987 rs35409987 1 1538 10 1/0 0,231,255 +rs4304809 (chr11:76370792 A/G) 11 76370792 A G Transcript NM_005512.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) LRRC32 +rs141925215 11 76726103 A G - ACER3 16066 Alkaline ceramidase 3 NM_018367.6 1 7378 804 NP_060837.3 Q9NUN7 substitution missense exon GRCh37 76726103 76726103 Chr11(GRCh37):g.76726103A>G 541 541 NM_018367.6:c.541A>G p.Ile181Val p.Ile181Val 8 617036 44 3' 86.0921 XII.52 0.972064 5.27216 86.0921 XII.52 0.972064 V.83 0 Ceramidase rs141925215 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.003100 0.000000 0.000000 0.001400 0.000578 0.000000 0.000117 0.000099 0.000000 0.002413 0.000561 0.000310 0.000310 0.002413 160 0 4 1 0 74 71 8 2 276688 24016 34202 10144 18846 30662 126594 25774 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 158 0 4 1 0 72 71 8 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4399 12980 3 1 4 0.000349487 0.000227273 0.000308071 0.000349487 0.000227273 0.000308071 83 transition A G A>G 0.354 -1.812 I Ile ATA 0.163 V Val GTA 0.114 181 12 5 Platypus 3 3 4 0 0 5.II 5.IX 111 84 29 C0 235.27 0.00 Tolerated 1 III.44 255 PASS . 0.0009 0.01 . . . 0.0008 0.0014 . . 0.0031 . . . . . 0.40816328 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.033 . . 49.0 . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . -1.5233 -1.554 -1.523 c . . . . . 6.788e-04 . . . 9.783e-05 0.0008 0.0003 0 0 0.0006 0 0.0026 0.0001 0.0007 0.0003 0 0 0.0004 0 0.0026 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . 0.002 0.0008 . . . 0.42 0.54 182 ENSG00000078124 ACER3 ACER3 . . . 1.000 0.747 . 13 0.000200074 64976 9 0.000150035 59986 Uncertain_significance . 0 . 0.197 . . . . T 0.062 0.003 . . 37 . 0.079 . . 0.174 . . . 0.094 0.192 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.079 . 0.256 . HET 1 . . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 III.77 2.68E-4 . V.47 -10.9 . 0.690000 . . . . 0.000308 . 0.054 . . . 0 0.0006 0.0001 0 0 0.0002 0.0005 0.0004 0.0024 0 0.0005 0 0.0033 0 0.0009 0.0009 0 . . 0.609 . -2.889 -2.889000 . . 0.690000 . . 1.0E-255 0.081 0.222 . 0.653 0.970 . 0.091 . 0.251 -2.889 0.090 0.01 . . rs141925215 rs141925215 1 1538 10 1/0 0,255,255 +. 11 76922116 GTTGGGGGTC G - MYO7A 7606 Myosin VIIA NM_000260.3 1 7465 6648 NP_000251.3 Q13402 deletion intron GRCh37 76922121 76922129 Chr11(GRCh37):g.76922121_76922129del 6052-76 6052-68 NM_000260.3:c.6052-76_6052-68del p.? p.? 45 44 276903 -68 3' 89.966 X.88 0.472698 XI.06 89.966 X.88 0.472698 11.1234 0 New Donor Site 76922119 0.873523 0.007977 67.8061 GGGTCTTGG 255 Pass . . . . . . . . . . . . . . . . 0.4680851 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000137474 MYO7A MYO7A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,33 +rs183478463 11 76996300 C T - GDPD4 24849 Glycerophosphodiester phosphodiesterase domain containing 4 NM_182833.2 -1 2597 1563 NP_878253.1 substitution intron GRCh37 76996300 76996300 Chr11(GRCh37):g.76996300C>T -118 -118 NM_182833.2:c.-50-68G>A p.? p.? 3 2 -68 3' 93.8377 X.06 0.985355 5.27388 93.8377 X.06 0.985355 5.29392 0 Cryptic Donor Strongly Activated 76996303 0.001827 61.1764 1.97533 0.030456 65.5387 rs183478463 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.001000 0.004000 0.000000 0.000000 0.001840 0.000000 0.000000 0.013245 0.005556 0.000000 0.000932 0.008014 0.002037 0.013245 57 0 0 4 9 0 14 28 2 30982 8732 838 302 1620 0 15014 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 0 0 4 9 0 14 28 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.360 255 PASS . 0.0018 . 0.01 0.0013 . 0.001 . 0.004 . 0.001 . . . . . 0.37142858 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||GDPD4|mRNA|CODING|NM_182833|) . . . . . . . 0.0643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.31 0.37 182 ENSG00000178795 GDPD4 GDPD4 . . . . . . 58 0.000892637 64976 53 0.000883539 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183478463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0018 0 0.0132 0.0056 0.0080 0.0009 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs183478463 rs183478463 1 1538 10 1/0 0,255,255 +. 11 85347086 T G - TMEM126B 30883 Transmembrane protein 126B NM_018480.5 1 1039 693 NP_060950.3 Q8IUX1 substitution splice site GRCh37 85347086 85347086 Chr11(GRCh37):g.85347086T>G 510-4 510-4 NM_018480.5:c.510-4T>G p.? p.? 5 4 615533 -4 3' 93.8233 12.1717 0.99909 10.0801 93.8233 X.86 0.998985 9.19588 -0.0332574 New Donor Site 85347085 1.1736 0.093243 64.6652 transversion T G T>G 1.000 1.335 255 PASS . . . . . . . . . . . . . . . . 0.71153843 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . I.80 . . . . . . . . 7.896e-06 . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 intronic . . . @ . . . . . . ENSG00000171204 TMEM126B TMEM126B ENST00000534341:c.*260T>G uc001paq.3:c.*260T>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.04 . . . . . . IV.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr11:89577934 A/G) 11 89577934 A G No Alamut gene - other known genes: TRIM53B TRIM53B +. (chr11:89577995 T/C) 11 89577995 T C No Alamut gene - other known genes: TRIM53B TRIM53B +. 11 89648197 A T - TRIM49D1 43973 Tripartite motif containing 49D1 NM_001206627.1 -1 1474 1359 NP_001193556.1 C9J1S8 substitution missense exon GRCh37 89648197 89648197 Chr11(GRCh37):g.89648197A>T 621 621 NM_001206627.1:c.621T>A p.Asp207Glu p.Asp207Glu 3 114 3' 86.7821 7.45431 0.880494 4.47765 86.7821 7.45431 0.880494 4.47765 0 transversion T A T>A 0.000 -2.458 D Asp GAT 0.461 E Glu GAA 0.417 207 11 5 Wallaby 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 II.98 111 PASS . . . . . . . . . . . . TRIM49D2P:uc009yvu.3:exon4:c.T621A:p.D207E . . . 1.0 . . @ 72 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.037 . . 72.0 . . . . . . . . . . -0.5787 -0.275 -0.579 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.024 @ . . . . . . ENSG00000223417 TRIM49D2P . . . . 0.002 0.095 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.313 0.012 . . 37 . . . . . . . . 0.160 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.104 . . . . . . 0 . . . . . . 0.013 . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . . . . . . 1.0E-111 0.000 0.063 . 0.016 0.001 . 0.002 . 0.001 . -0.217 . . . . . 1 1538 255 1.I 0,0,255 +. 11 89648197 A T - TRIM49D2 37217 Tripartite motif containing 49D2 NM_001105522.1 -1 1651 1359 NP_001098992.1 C9J1S8 substitution missense exon GRCh37 89648197 89648197 Chr11(GRCh37):g.89648197A>T 621 621 NM_001105522.1:c.621T>A p.Asp207Glu p.Asp207Glu 4 114 3' 86.7821 7.45431 0.880494 4.47765 86.7821 7.45431 0.880494 4.47765 0 transversion T A T>A 0.000 -2.458 D Asp GAT 0.461 E Glu GAA 0.417 207 11 5 White-tuffed-ear marmoset 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 III.13 111 PASS . . . . . . . . . . . . TRIM49D2P:uc009yvu.3:exon4:c.T621A:p.D207E . . . 1.0 . . @ 72 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.037 . . 72.0 . . . . . . . . . . -0.5787 -0.275 -0.579 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.024 @ . . . . . . ENSG00000223417 TRIM49D2P . . . . 0.002 0.095 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.313 0.012 . . 37 . . . . . . . . 0.160 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.104 . . . . . . 0 . . . . . . 0.013 . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . . . . . . 1.0E-111 0.000 0.063 . 0.016 0.001 . 0.002 . 0.001 . -0.217 . . . . . 1 1538 255 1.I 0,0,255 +rs200275703 (chr11:89662611 T/A) 11 89662611 T A Not on a known gene +rs111729232 11 89732852 G T - TRIM53AP 19025 Tripartite motif containing 53A, pseudogene NR_028346.1 -1 1730 0 substitution exon GRCh37 89732852 89732852 Chr11(GRCh37):g.89732852G>T 249 249 NR_028346.1:n.249C>A 2 58 3' 89.3218 11.1639 0.971304 7.56069 89.3218 11.1639 0.971304 7.76912 0 rs111729232 no no 0 G 0.000000 0 0.000378 0.000000 0.000000 0.000000 0.001752 0.000000 0.000362 0.000000 0.000000 0.001752 7 0 0 0 5 0 2 0 0 18506 2988 3414 332 2854 2712 5528 214 464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Exomes transversion C A C>A 0.961 -0.360 255 PASS . . . . . . . . . . . . TRIM53AP:uc010rtz.2:exon2:c.C54A:p.C18X . . . 0.41489363 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 94.0 . . STOP_GAINED(HIGH|NONSENSE|tgC/tgA|C83*|TRIM53AP|Non-coding_transcript|NON_CODING|NR_028346.2|NR_028346.2.ex.2) . . . . . . . -0.2454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.73 0.21 182 ENSG00000225581 TRIM53AP TRIM53AP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs111729232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0.0018 0 0.0004 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111729232 rs111729232 1 1538 10 1/0 0,255,255 +rs560569294 11 89820338 T G - UBTFL1 14533 Upstream binding transcription factor, RNA polymerase I-like 1 NM_001143975.1 1 1182 1182 NP_001137447.1 P0CB47 substitution downstream GRCh37 89820338 89820338 Chr11(GRCh37):g.89820338T>G *39 *39 NM_001143975.1:c.*39T>G p.? p.? 1 613696 rs560569294 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000211 0.000089 0.000412 0.000000 0.000563 0.000000 0.000230 0.000000 0.000000 0.000563 11 1 2 0 3 0 5 0 0 52038 11266 4860 998 5330 4156 21742 2214 1472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 2 0 3 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -1.570 255 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.44186047 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . DOWNSTREAM(MODIFIER||||UBTFL1|mRNA|CODING|NM_001143975|) . . . . . . . -0.5369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . 0.0004 . . . . . . ENSG00000255009 UBTFL1 UBTFL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs560569294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0.0005 0 0.0007 0 8.786e-05 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs112825199 11 92615751 T C - FAT3 23112 FAT tumor suppressor homolog 3 (Drosophila) NM_001008781.2 1 19048 13674 NP_001008781.2 substitution intron GRCh37 92615751 92615751 Chr11(GRCh37):g.92615751T>C 12282-153 12282-153 NM_001008781.2:c.12282-153T>C p.? p.? 23 22 612483 -153 3' 82.9881 9.99935 0.859647 3.31328 82.9881 9.99935 0.859647 3.31328 0 rs112825199 yes no Frequency/1000G 2 T 0.000000 0 0.295327 0.344200 0.287300 0.302600 0.281300 0.223300 transition T C T>C 0.000 -0.279 111 PASS . . . . . 0.34 0.3 0.22 0.3 0.28 0.29 . . . . . 0.42857143 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||FAT3|mRNA|CODING|NM_001008781|) . . . . . . . -0.5356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2953 . . . 0.31 0.41 182 ENSG00000165323 FAT3 FAT3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112825199 0.087 0.065 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv898173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.087 . . rs112825199 rs112825199 1 1538 10 1/0 100,2,0 +rs762859697 11 94278628 C A - FUT4 4015 Fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) NM_002033.3 1 6048 1593 NP_002024.1 P22083 substitution missense exon GRCh37 94278628 94278628 Chr11(GRCh37):g.94278628C>A 1329 1329 NM_002033.3:c.1329C>A p.Asp443Glu p.Asp443Glu 1 104230 Glycosyl transferase, family 10 rs762859697 yes no Frequency 1 C 0.000000 0 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000087 0.000000 0.000155 0.000087 12 0 0 0 0 0 11 0 1 276400 23982 34410 10120 18844 30758 126116 25720 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.646 0.770 D Asp GAC 0.539 E Glu GAA 0.417 443 11 6 Dog 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 249.02 0.00 Tolerated 0.19 III.72 good 1.29E-1 0.3387 255 PASS . . . . . . . . . . . ENSG00000196371:ENST00000358752:exon1:c.C1329A:p.D443E FUT4:uc001pez.3:exon1:c.C1329A:p.D443E FUT4:NM_002033:exon1:c.C1329A:p.D443E . . 0.47692308 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.274 . @ . . . . . 1 0.343 . . 195.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D443E|FUT4|mRNA|CODING|NM_002033|NM_002033.ex.1) . . . . . . . -0.4695 -0.609 -0.470 c . . . . . 6.316e-05 . . . 0 5.595e-05 0 0 0 0.0001 0 0 0 3.789e-05 0 0 0 7.397e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000196371 FUT4 FUT4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.125 . . . . T 0.324 0.013 . . 37 . 0.249 . . 0.168 . . . 0.361 0.231 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.307 . . 0 0 0 0 0 0 . 0.407 . . 0.450 . . . . . . 0 0.348 . . . . . 0.181 . 0.213 . HET 0.36 rs762859697 . . . . . . . . . . . . V.21 . ENST00000358752 IV.93 -0.719 . 0.030000 P22083 . . Name\x3desv2671948 . . 0.229 . . . 0 4.074e-05 0 0 0 0 8.999e-05 0 0 0 6.464e-05 0 0 0 0 6.669e-05 0.0010 . . 0.872 . -0.343 -0.343000 . . 0.030000 . . 1.0E-255 0.001 0.137 . 0.117 0.735 . 0.109 . 0.151 -0.343 0.008 . . . . . 1 1538 10 1/0 0,230,251 +. (chr11:94699507 A/AG) 11 94699507 A AG Not on a known gene +. 11 94800902 G GC - SRSF8 16988 Serine/arginine-rich splicing factor 8 NR_103726.1 1 3876 0 duplication exon GRCh37 94800903 94800904 Chr11(GRCh37):g.94800903dup 863 863 NR_103726.1:n.863dup 1 603269 -443 5' 62.3256 0 0.009021 0 62.3256 0 0.009021 0 0 Cryptic Acceptor Strongly Activated 94800917 6.87149 0.218997 81.2313 8.50106 0.478307 81.2313 rs5793709 yes no Frequency/1000G 2 0.000000 0 0.999800 1.000000 1.000000 0.999000 1.000000 1.000000 0.999993 0.999958 0.999971 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 277132 24009 34419 10146 18864 30782 126666 25788 6458 277134 24010 34420 10146 18864 30782 126666 25788 6458 0.999986 0.999917 0.999942 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 138565 12004 17209 5073 9432 15391 63333 12894 3229 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 4 4 8012 3916 11928 0 0.00102041 0.000335233 1 0.99898 0.999665 42 C 255 Pass 0.99 1. 0.99 1. 1. 1. 1. 1. 1. 1. 1. UNKNOWN . UNKNOWN . . 0.9748744 . . . 194 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 199 . . . 1. 1. 1. 1. 1. 1. . . . . . . . . . . 1.00 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 unknown . unknown . . . exonic\x3bsplicing splicing exonic . . . . . . . . . . ENSG00000271885\x3bENSG00000180771 SRSF8 SRSF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs5793709 0.065 0.043 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv898188 0.999832 . . . . . 1 1.0000 1.0000 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11410745 rs5793709 rs5793709 1 1538 255 1.I 0,0,255 +rs116872934 11 103153758 G C - DYNC2H1 2962 Dynein cytoplasmic 2 heavy chain 1 NM_001080463.1 1 13699 12945 NP_001073932.1 substitution missense exon GRCh37 103153758 103153758 Chr11(GRCh37):g.103153758G>C 10855 10855 NM_001080463.1:c.10855G>C p.Asp3619His p.Asp3619His 74 603297 22 3' 86.1268 4.35204 0.504307 2.40591 86.1268 4.35204 0.504307 2.0283 0 Dynein heavy chain domain rs116872934 yes no Frequency/1000G 2 G benign,likely_benign 0.000000 0 0.005192 0.000000 0.000000 0.000000 0.007000 0.027400 0.007464 0.001606 0.029942 0.005578 0.000000 0.002497 0.006418 0.001323 0.006194 0.029942 2025 38 984 56 0 74 800 34 39 271298 23664 32864 10040 18468 29634 124642 25690 6296 0.000155 0.000000 0.001156 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 21 0 19 0 0 0 2 0 0 1983 38 946 56 0 74 796 34 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8068 3647 11715 60 5 65 0.00738189 0.00136911 0.00551783 0.00738189 0.00136911 0.00551783 66 RCV000321176.2|RCV000204292.3|RCV000390967.1 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Conflicting interpretations of pathogenicity|Likely benign 2|1|1 not specified|Jeune thoracic dystrophy|Short Rib Polydactyly Syndrome transversion G C G>C 1.000 3.918 D Asp GAT 0.461 H His CAT 0.413 3619 28 24 Western painted turtle 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 147.78 13.17 Deleterious 0.04 III.58 good 1.727E-1 0.1989 255 PASS . 0.01 0.03 . 0.01 . 0.0052 0.027 . 0.007 . . . . . . 0.33333334 . . germline 7 . . 1.2.2016 0 0 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.457 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign//\%//\@Likely//\@benign other|Benign|Likely_benign RCV000204292.2|RCV000321176.1|RCV000390967.1 Jeune_thoracic_dystrophy|not_specified|Short_Rib_Polydactyly_Syndrome MedGen:SNOMED_CT|MedGen|MedGen C0265275:75049004|CN169374|C0036996 1 0.661 . . 21.0 . . . 0.0014 0.0055 0.0074 0.0014 0.0055 0.0074 . 0.2587 0.402 0.259 c . . . . . 6.796e-03 . . . 0.0018 0.0078 0.0320 0 0.0006 0.0067 0.0077 0.0019 0.0016 0.0075 0.0319 0 0.0010 0.0071 0.0048 0.0019 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.085 . . exonic exonic exonic . . 0.793 0.0052 . . . 0.48 0.43 182 ENSG00000187240 DYNC2H1 DYNC2H1 . . . 0.916 0.265 . 320 0.0049249 64976 294 0.00490114 59986 Likely_benign . 0 . 0.011 . . . . . . . . . 37 . 0.066 . . 0.099 . . . 0.351 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.456 . . 0 0 0 0 0 0 . 0.436 . . 0.520 . . . . . . 0 0.419 . . . . . 0.892 . 0.747 . HET 0.03 rs116872934 0.011 0.007 . . . . . 0.007326007326007326 0.0 0.03038674033149171 0.0 0.006596306068601583 18.0381 0.001687 . V.44 V.44 . 0.050000 . . . . 0.005518 . 0.718 . . V.44 0.0015 0.0079 0.0301 0.0058 0 0.0014 0.0065 0.0062 0.0025 0.0017 0.0043 0.0239 0 0 0.0006 0.0059 0.0061 . . 0.609 . 2.551 2.551000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.736 . 0.613 2.551 0.917 0.03 . . rs116872934 rs116872934 1 1538 10 1/0 0,255,255 +rs201418928 11 106888667 T G - GUCY1A2 4684 Guanylate cyclase 1, soluble, alpha 2 NM_001256424.1 -1 16219 2292 NP_001243353.1 substitution missense exon GRCh37 106888667 106888667 Chr11(GRCh37):g.106888667T>G 115 115 NM_001256424.1:c.115A>C p.Ser39Arg p.Ser39Arg 1 601244 -189 5' 76.8168 9.10332 0.929727 14.5202 76.8168 9.10332 0.929727 14.5202 0 rs201418928 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.001320 0.000332 0.000434 0.000000 0.000000 0.000062 0.002338 0.000662 0.000892 0.002338 216 5 6 0 0 1 187 14 3 163696 15046 13836 5508 8604 16226 79978 21134 3364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 216 5 6 0 0 1 187 14 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8282 4245 12527 18 1 19 0.00216867 0.000235516 0.00151443 0.00216867 0.000235516 0.00151443 7 transversion A C A>C 1.000 1.093 S Ser AGC 0.243 R Arg CGC 0.190 39 11 6 Frog -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . 0.0004 0.0014 . 0.001 . . . . . . 0.6041667 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.361 . @ . . . . . 1 0.218 . . 48.0 . . . 0.0002 0.0015 0.0022 0.0002 0.0015 0.0022 . -0.5052 -0.486 -0.505 c . . . . . 1.220e-03 . . . 0.0006 0.0018 0.0009 0 0 0.0035 0 0 0.0007 0.0021 0.0009 0 0.0008 0.0034 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.860 . . exonic exonic exonic . . 0.268 0.0004 . . . 0.28 0.35 182 ENSG00000152402 GUCY1A2 GUCY1A2 . . . 1.000 0.517 . 60 0.000923418 64976 58 0.000966892 59986 Uncertain_significance . 0 . . . . . . D 0.990 0.867 . . 37 . 0.783 . . 0.722 . . . 0.225 0.378 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.174 . . 0 0 0 0 0 0 . 0.312 . . 0.324 . . . . . . 0 0.166 . . . . . 0.271 . 0.547 . HET 0.2 rs201418928 . . . . . . . . . . . . VII.03 2.77E-4 . III.34 II.19 . 0.110000 . . . . 0.001514 . 0.193 . . II.19 0.0003 0.0012 0.0004 0 0 0.0007 0.0022 0.0008 6.163e-05 0.0004 0.0017 0.0015 0 0 0.0004 0.0031 0.0011 . . 0.319 . 0.360 0.360000 . . 0.110000 . . 1.0E-255 1.000 0.715 . 0.300 0.999 . 0.217 . 0.309 0.360 0.970 0.0022 . . rs201418928 rs201418928 1 1538 10 1/0 0,255,255 +. 11 111395601 T C - C11orf88 25061 Chromosome 11 open reading frame 88 NM_207430.2 1 795 591 NP_997313.2 substitution intron GRCh37 111395601 111395601 Chr11(GRCh37):g.111395601T>C 340-7 340-7 NM_207430.2:c.340-7T>C p.? p.? 4 3 -7 3' 89.0656 X.49 0.995856 11.929 89.0656 11.0124 0.994027 XII.89 0.00768498 transition T C T>C 0.008 0.528 255 PASS . . . . . . . . . . . . . . . . 0.5833333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000254980 C11orf88 C11orf88 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 11 111853106 G GC - DIXDC1 23695 DIX domain containing 1 NM_001037954.3 1 5963 2052 NP_001033043.1 Q155Q3 duplication frameshift exon NG_033127.1 60242 60243 NG_033127.1:g.60242dup 815 815 NM_001037954.3:c.815dup p.Gly273Trpfs*44 p.Gly273Trpfs*44 7 610493 46 3' 88.5427 9.96207 0.995549 8.14724 88.5427 9.96207 0.995549 7.64304 0 rs11455434 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999989 1.000000 1.000000 1.000000 0.999894 1.000000 0.999992 1.000000 1.000000 1.000000 277059 23998 34402 10150 18864 30776 126633 25784 6452 277062 23998 34402 10150 18866 30776 126634 25784 6452 0.999978 1.000000 1.000000 1.000000 0.999788 1.000000 0.999984 1.000000 1.000000 138528 11999 17201 5075 9431 15388 63316 12892 3226 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 1 1 7840 3553 11393 0 0.000281373 8.77655e-05 1 0.999719 0.999912 43 C 255 Pass . . . . . 1. 1. 1. 1. 1. 1. . . UNKNOWN . . 1.0 . . . 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 48 . . . . . . 1. 1. 1. . . . . . . . . . . 1.00 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . unknown . . . splicing splicing exonic . . . . . . . . . . ENSG00000150764 DIXDC1 DIXDC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11455434 0.022 0.022 . . . . . . . . . . . . . . . . . . . . Name\x3desv2745077 . . . . . . 1 1.0000 1 1 0.9999 1 1.0000 1 1 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs11455434 rs11455434 1 1538 255 1.I 0,0,255 +rs142447171 11 113144387 C A - NCAM1 7656 Neural cell adhesion molecule 1 NM_181351.4 1 5992 2577 NP_851996.2 P13591 substitution intron NG_032036.1 317419 317419 NG_032036.1:g.317419C>A 2457-1602 2457-1602 NM_181351.4:c.2457-1602C>A p.? p.? 20 19 116930 -1602 3' 91.083 X.05 0.970977 9.70709 91.083 X.05 0.970977 9.70709 0 New Acceptor Site 317421 6.83589 0.329858 82.5284 rs142447171 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000800 0.003100 0.000000 0.004000 0.001400 0.003562 0.000872 0.000448 0.000000 0.001128 0.008352 0.003792 0.010348 0.001744 0.010348 571 13 11 0 13 188 247 91 8 160324 14904 24536 8340 11520 22510 65132 8794 4588 0.000062 0.000000 0.000000 0.000000 0.000000 0.000355 0.000000 0.000227 0.000000 5 0 0 0 0 4 0 1 0 561 13 11 0 13 180 247 89 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 1.000 255 PASS 0.002 0.0027 0.0028 . 0.01 0.0008 0.0018 0.0014 . 0.004 0.0031 . NCAM1:uc001pnt.3:exon1:c.C78A:p.P26P . . . 0.46464646 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . . . . . . . . . . 3.840e-03 . . . 0.0018 0.0056 0.0111 0 0 0.0006 0.0077 0.0081 0.0040 0.0062 0.0141 0 0 0.0008 0.0086 0.0081 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0018 . . . 0.64 0.55 182 ENSG00000227487 NCAM1 NCAM1-AS1 . . . . . . 270 0.00415538 64976 261 0.00435102 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.16 0.0010 0.0035 0.0005 0 0.0013 0.01 0.0036 0.0019 0.0084 0.0008 0.0037 0 0 0 0.0109 0.0045 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs142447171 rs142447171 1 1538 10 1/0 0,254,255 +rs142447171 11 113144387 C A - NCAM1-AS1 48675 NCAM1 antisense RNA1 NR_034101.1 -1 713 0 substitution exon GRCh37 113144387 113144387 Chr11(GRCh37):g.113144387C>A 237 237 NR_034101.1:n.237G>T 1 -42 5' 77.6593 3.77335 0.131316 0.703182 77.6593 3.77335 0.131316 0.793011 0 rs142447171 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000800 0.003100 0.000000 0.004000 0.001400 0.003562 0.000872 0.000448 0.000000 0.001128 0.008352 0.003792 0.010348 0.001744 0.010348 571 13 11 0 13 188 247 91 8 160324 14904 24536 8340 11520 22510 65132 8794 4588 0.000062 0.000000 0.000000 0.000000 0.000000 0.000355 0.000000 0.000227 0.000000 5 0 0 0 0 4 0 1 0 561 13 11 0 13 180 247 89 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 1.000 1.093 255 PASS 0.002 0.0027 0.0028 . 0.01 0.0008 0.0018 0.0014 . 0.004 0.0031 . NCAM1:uc001pnt.3:exon1:c.C78A:p.P26P . . . 0.46464646 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . . . . . . . . . . 3.840e-03 . . . 0.0018 0.0056 0.0111 0 0 0.0006 0.0077 0.0081 0.0040 0.0062 0.0141 0 0 0.0008 0.0086 0.0081 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0018 . . . 0.64 0.55 182 ENSG00000227487 NCAM1 NCAM1-AS1 . . . . . . 270 0.00415538 64976 261 0.00435102 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.16 0.0010 0.0035 0.0005 0 0.0013 0.01 0.0036 0.0019 0.0084 0.0008 0.0037 0 0 0 0.0109 0.0045 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs142447171 rs142447171 1 1538 10 1/0 0,254,255 +rs367567317 11 113568076 C T - TMPRSS5 14908 Transmembrane protease, serine 5 NM_030770.3 -1 2237 1374 NP_110397.2 Q9H3S3 substitution stop gain exon GRCh37 113568076 113568076 Chr11(GRCh37):g.113568076C>T 393 393 NM_030770.3:c.393G>A p.Trp131* p.Trp131* 5 606751 65 3' 78.911 5.16181 0.070432 2.39143 78.911 5.16181 0.070432 2.63891 0 rs367567317 yes no Frequency 1 C 0.000000 0 0.000130 0.000000 0.000058 0.000000 0.000000 0.000000 0.000253 0.000000 0.000310 0.000253 36 0 2 0 0 0 32 0 2 276810 24014 34416 10148 18868 30780 126338 25792 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 0 2 0 0 0 32 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8447 4082 12529 3 0 3 0.00035503 0 0.000239387 0.00035503 0 0.000239387 50 transition G A G>A 1.000 4.564 W Trp TGG 1.000 * * TGA 0.489 131 255 PASS . . . . . . . . . . . . . . . . 0.43589744 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.975 . @ . . . . . 0 0.741 . . 39.0 . . . . 0.0002 0.0004 . 0.0002 0.0004 . 0.7757 0.629 0.776 c . . . . . 1.674e-04 . . . 0 0.0002 8.67e-05 0 0 0.0003 0 0 0 0.0001 8.935e-05 0 0 0.0002 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.750 @ . . . 0.69 0.62 182 ENSG00000166682 TMPRSS5 TMPRSS5 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.790 . . . HET 0.13 rs367567317 . . . . . . . . . . . . 15.8909 0.0 . V.31 V.31 . 1.000000 . . . . 0.000239 . 0.605 . . V.31 0 0.0001 5.956e-05 0 0 0 0.0003 0.0004 0 0 0.0001 0 0 0 0 0.0003 0 . . 0.372 . 2.467 2.467000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.418 0.997 . 0.637 . 0.362 2.467 0.871 0.0004 . . rs367567317 rs367567317 1 1538 10 1/0 0,255,255 +rs45570432 11 113678765 T C - USP28 12625 Ubiquitin specific peptidase 28 NM_001346252.1 -1 4854 3420 NP_001333181.1 substitution missense exon GRCh37 113678765 113678765 Chr11(GRCh37):g.113678765T>C 2398 2398 NM_001346252.1:c.2398A>G p.Thr800Ala p.Thr800Ala 19 610748 -93 5' 68.9897 6.61826 0.585975 3.79331 68.9897 6.61826 0.585975 3.79331 0 rs45570432 yes no Frequency/1000G 2 T 0.000000 0 0.002796 0.000800 0.003100 0.000000 0.008000 0.002900 0.007016 0.001377 0.004812 0.001095 0.000000 0.002486 0.011240 0.015350 0.008556 0.015350 696 20 59 3 0 22 485 82 25 99206 14522 12260 2740 9422 8848 43150 5342 2922 0.000081 0.000000 0.000163 0.000000 0.000000 0.000000 0.000139 0.000000 0.000000 4 0 1 0 0 0 3 0 0 688 20 57 3 0 22 479 82 25 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.331 -0.037 T Thr ACT 0.243 A Ala GCT 0.263 800 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.86 IV.32 255 PASS 0.002 0.0037 0.0028 . 0.01 0.0008 0.0028 0.0029 . 0.008 0.0031 UNKNOWN . . . . 0.5409836 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.5844 . . . . . . . . 3.581e-03 . . . 0.0018 0.0100 0.0085 0 0.1304 0.0093 0 0.0172 0.0049 0.0183 0.0115 0 0.1379 0.0160 0 0.0180 unknown . . . . . exonic intronic intronic . . . 0.0028 . . . 0.38 0.17 182 ENSG00000048028 USP28 USP28 . . . . . . 869 0.0133742 64976 856 0.01427 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45570432 . . . . . . . 0.003663003663003663 0.0020325203252032522 0.0027624309392265192 0.0 0.0079155672823219 5.159 . ENST00000538224 V.35 1.I . . . . . Name\x3dnsv832273 . . . . . . 0.0012 0.0068 0.0052 0.0012 0 0.0152 0.0119 0.0067 0.0025 0.0015 0.0074 0 0 0 0.0155 0.0100 0.0122 . . . . 0.019 0.019000 . . . . . 1.0E-255 . . . . . . . . . 0.019 . 0.01 rs45570432 rs45570432 rs45570432 rs45570432 1 1538 10 1/0 0,255,255 +rs3088357 11 114121292 C T - ZBTB16 12930 Zinc finger and BTB domain containing 16 NM_001018011.2 1 8405 2022 NP_001018011.1 Q05516 substitution 3'UTR GRCh37 114121292 114121292 Chr11(GRCh37):g.114121292C>T *15 *15 NM_001018011.2:c.*15C>T p.? p.? 7 176797 245 3' 80.07 XII.83 0.939454 14.5702 80.07 XII.83 0.939454 14.5702 0 rs3088357 yes no Frequency/1000G 2 C 0.000000 0 0.004992 0.000800 0.001000 0.000000 0.012900 0.014400 0.007025 0.001934 0.003576 0.006431 0.000106 0.002502 0.010723 0.009101 0.006884 0.010723 1933 46 123 65 2 77 1343 233 44 275150 23790 34398 10108 18844 30772 125244 25602 6392 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000112 0.000000 0.000000 7 0 0 0 0 0 7 0 0 1919 46 123 65 2 77 1329 233 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8503 4389 12892 89 13 102 0.0103585 0.0029532 0.00784978 0.0103585 0.0029532 0.00784978 30 transition C T C>T 0.000 -0.440 213 PASS . 0.01 0.02 . 0.01 0.0008 0.005 0.014 . 0.013 0.001 . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . 0.003 0.0078 0.01 0.003 0.0078 0.01 . . . . . . . . . . 6.829e-03 . . . 0.0024 0.0057 0.0026 0 0.0079 0.0092 0.0144 0.0024 0.0026 0.0064 0.0025 0 0.0079 0.0098 0.0147 0.0024 . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0050 . . . 0.31 0.66 182 ENSG00000256947 ZBTB16 ZBTB16 . . . . . . 613 0.00943425 64976 588 0.00980229 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3088357 . . . . . . . . . . . . . . . . . . . . . . . 0.007850 . . . . . 0.0020 0.0070 0.0036 0.0064 0.0001 0.0089 0.0108 0.0061 0.0025 0.0017 0.0072 0.0036 0.0066 0 0.0102 0.0104 0.0117 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.02 rs3088357 rs3088357 rs3088357 rs3088357 1 1538 10 1/0 0,255,255 +. (chr11:117007411 G/A) 11 117007411 G A Not on a known gene +rs2170320 11 117056607 A G - SIDT2 24272 SID1 transmembrane family, member 2 NM_001040455.1 1 3919 2499 NP_001035545.1 Q8NBJ9 substitution intron GRCh37 117056607 117056607 Chr11(GRCh37):g.117056607A>G 869-239 869-239 NM_001040455.1:c.869-239A>G p.? p.? 9 8 617551 -239 3' 78.727 9.18147 0.7623 8.83099 78.727 9.18147 0.7623 8.83099 0 rs2170320 no no 0 G 0.000000 0 0.001078 0.001905 0.000000 0.000000 0.000000 0.000000 0.000727 0.001661 0.000000 0.001905 11 7 0 0 0 0 3 1 0 10204 3674 242 94 1186 0 4126 602 280 0.090909 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 7 5 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 100 Genomes transition A G A>G 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.61538464 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 13.0 . . INTRON(MODIFIER||||SIDT2|mRNA|CODING|NM_001040455|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.13 182 ENSG00000149577 SIDT2 SIDT2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2170320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0011 0 0 0 0.0017 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2170320 rs2170320 rs2170320 rs2170320 1 1538 10 1/0 0,255,255 +rs2170319 11 117056609 A G - SIDT2 24272 SID1 transmembrane family, member 2 NM_001040455.1 1 3919 2499 NP_001035545.1 Q8NBJ9 substitution intron GRCh37 117056609 117056609 Chr11(GRCh37):g.117056609A>G 869-237 869-237 NM_001040455.1:c.869-237A>G p.? p.? 9 8 617551 -237 3' 78.727 9.18147 0.7623 8.83099 78.727 9.18147 0.7623 8.83099 0 rs2170319 no no 0 G 0.000000 0 0.007409 0.022139 0.013298 0.000000 0.000000 0.000000 0.000262 0.001695 0.004425 0.022139 117 106 5 0 0 0 2 2 2 15792 4788 376 164 1210 0 7622 1180 452 0.076923 0.066038 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 9 7 1 0 0 0 0 0 1 37 7 0 0 0 0 27 0 3 0 0 0 0 0 0 0 0 0 PASS 54 Genomes transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.5714286 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . INTRON(MODIFIER||||SIDT2|mRNA|CODING|NM_001040455|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.13 182 ENSG00000149577 SIDT2 SIDT2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2170319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0221 0.0074 0.0133 0 0 0.0017 0.0003 0.0044 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs2170319 rs2170319 1 1538 10 1/0 0,255,255 +rs373961831 11 117078486 A G - PCSK7 8748 Proprotein convertase subtilisin/kexin type 7 NM_004716.3 -1 3915 2358 NP_004707.2 Q16549 substitution intron GRCh37 117078486 117078486 Chr11(GRCh37):g.117078486A>G 1786+200 1786+200 NM_004716.3:c.1786+200T>C p.? p.? 14 14 604872 200 5' 82.5954 11.1124 0.984324 8.26924 82.5954 11.1124 0.984324 8.26924 0 rs373961831 yes no Frequency 1 A 0.000000 0 0.009124 0.001510 0.004280 0.022637 0.000192 0.011457 0.010743 0.012308 0.008874 0.022637 1537 23 101 183 2 234 733 220 41 168462 15234 23598 8084 10396 20424 68232 17874 4620 0.000071 0.000000 0.000085 0.000000 0.000000 0.000294 0.000059 0.000000 0.000000 6 0 1 0 0 3 2 0 0 1525 23 99 183 2 228 729 220 41 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.016 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.3561644 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . . . . . . . . . . 4.545e-03 . . . 0.0043 0.0135 0 0 0.0263 0.0171 0.0244 0.0130 0 0.0138 0 0 0.0263 0.0201 0.0268 0.0131 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000160613 PCSK7 PCSK7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs373961831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0091 0.0043 0.0221 0.0002 0.0120 0.0103 0.0073 0.0115 0.0015 0.0091 0.0037 0.0374 0 0.0136 0.0125 0.0150 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs373961831 rs373961831 1 1538 10 1/0 0,232,255 +rs373961831 11 117078486 A G - TAGLN 11553 Transgelin NM_001001522.2 1 4260 606 NP_001001522.1 Q01995 substitution downstream GRCh37 117078486 117078486 Chr11(GRCh37):g.117078486A>G *3411 *3411 NM_001001522.2:c.*3411A>G p.? p.? 5 600818 3556 3' 84.7828 11.0804 0.96159 9.71786 84.7828 11.0804 0.96159 9.71786 0 New Donor Site 117078485 0.367444 0.016443 60.346 rs373961831 yes no Frequency 1 A 0.000000 0 0.009124 0.001510 0.004280 0.022637 0.000192 0.011457 0.010743 0.012308 0.008874 0.022637 1537 23 101 183 2 234 733 220 41 168462 15234 23598 8084 10396 20424 68232 17874 4620 0.000071 0.000000 0.000085 0.000000 0.000000 0.000294 0.000059 0.000000 0.000000 6 0 1 0 0 3 2 0 0 1525 23 99 183 2 228 729 220 41 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.016 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.3561644 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . . . . . . . . . . 4.545e-03 . . . 0.0043 0.0135 0 0 0.0263 0.0171 0.0244 0.0130 0 0.0138 0 0 0.0263 0.0201 0.0268 0.0131 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000160613 PCSK7 PCSK7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs373961831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0091 0.0043 0.0221 0.0002 0.0120 0.0103 0.0073 0.0115 0.0015 0.0091 0.0037 0.0374 0 0.0136 0.0125 0.0150 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs373961831 rs373961831 1 1538 10 1/0 0,232,255 +rs117095102 11 118399289 G A - KMT2A 7132 Lysine (K)-specific methyltransferase 2A NM_001197104.1 1 16594 11919 NP_001184033.1 substitution downstream GRCh37 118399289 118399289 Chr11(GRCh37):g.118399289G>A *6402 *6402 NM_001197104.1:c.*6402G>A p.? p.? 36 159555 6678 3' 87.334 VIII.71 0.804094 8.99409 87.334 VIII.71 0.804094 8.99409 0 rs117095102 yes no Frequency/1000G 2 G 0.000000 0 0.005391 0.000800 0.005100 0.000000 0.016900 0.005800 0.009642 0.001759 0.002516 0.004603 0.000000 0.006101 0.013550 0.017453 0.010543 0.017453 2159 40 60 26 0 119 1456 406 52 223922 22740 23848 5648 16536 19504 107452 23262 4932 0.000125 0.000000 0.000000 0.000000 0.000000 0.000103 0.000112 0.000516 0.000406 14 0 0 0 0 1 6 6 1 2131 40 60 26 0 117 1444 394 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8480 4389 12869 110 11 121 0.0128056 0.0025 0.00931486 0.0128056 0.0025 0.00931486 54 transition G A G>A 0.000 -0.037 255 PASS 0.002 0.01 0.01 . 0.02 0.0008 0.0054 0.0058 . 0.017 0.0051 . . . . . 0.5068493 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . 0.0025 0.0093 0.013 0.0025 0.0093 0.013 . . . . . . . . . . 9.898e-03 . . . 0.0017 0.0081 0.0022 0 0.0205 0.0117 0.0066 0.0068 0.0015 0.0100 0.0022 0 0.0186 0.0142 0.0051 0.0069 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0054 . . . 0.43 0.11 182 ENSG00000255435 TTC36 LOC101929089 . . . . . . 694 0.0106809 64976 667 0.0111193 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1319n71 0.009315 . . . . . 0.0016 0.0097 0.0026 0.0045 0 0.0174 0.0137 0.0104 0.0061 0.0019 0.0091 0.0012 0.0066 0 0.0178 0.0126 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs117095102 rs117095102 1 1538 10 1/0 0,255,255 +rs117095102 11 118399289 G A - TTC36 33708 Tetratricopeptide repeat domain 36 NM_001080441.1 1 679 570 NP_001073910.1 A6NLP5 substitution intron GRCh37 118399289 118399289 Chr11(GRCh37):g.118399289G>A 119-29 119-29 NM_001080441.1:c.119-29G>A p.? p.? 2 1 -29 3' 79.0656 6.43897 0.745701 7.32951 79.0656 6.43897 0.745701 7.22238 0 rs117095102 yes no Frequency/1000G 2 G 0.000000 0 0.005391 0.000800 0.005100 0.000000 0.016900 0.005800 0.009642 0.001759 0.002516 0.004603 0.000000 0.006101 0.013550 0.017453 0.010543 0.017453 2159 40 60 26 0 119 1456 406 52 223922 22740 23848 5648 16536 19504 107452 23262 4932 0.000125 0.000000 0.000000 0.000000 0.000000 0.000103 0.000112 0.000516 0.000406 14 0 0 0 0 1 6 6 1 2131 40 60 26 0 117 1444 394 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8480 4389 12869 110 11 121 0.0128056 0.0025 0.00931486 0.0128056 0.0025 0.00931486 54 transition G A G>A 0.000 -0.037 255 PASS 0.002 0.01 0.01 . 0.02 0.0008 0.0054 0.0058 . 0.017 0.0051 . . . . . 0.5068493 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . 0.0025 0.0093 0.013 0.0025 0.0093 0.013 . . . . . . . . . . 9.898e-03 . . . 0.0017 0.0081 0.0022 0 0.0205 0.0117 0.0066 0.0068 0.0015 0.0100 0.0022 0 0.0186 0.0142 0.0051 0.0069 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0054 . . . 0.43 0.11 182 ENSG00000255435 TTC36 LOC101929089 . . . . . . 694 0.0106809 64976 667 0.0111193 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1319n71 0.009315 . . . . . 0.0016 0.0097 0.0026 0.0045 0 0.0174 0.0137 0.0104 0.0061 0.0019 0.0091 0.0012 0.0066 0 0.0178 0.0126 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs117095102 rs117095102 1 1538 10 1/0 0,255,255 +rs6589671 11 118529078 G C - PHLDB1 23697 Pleckstrin homology-like domain, family B, member 1 NM_001144758.2 1 5479 4134 NP_001138230.1 Q86UU1 substitution downstream GRCh37 118529078 118529078 Chr11(GRCh37):g.118529078G>C *1545 *1545 NM_001144758.2:c.*1545G>C p.? p.? 23 612834 1686 3' 88.0945 9.62813 0.888314 13.5741 88.0945 9.62813 0.888314 13.5741 0 rs6589671 yes no Frequency/HapMap/1000G 3 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999981 1.000000 1.000000 1.000000 1.000000 1.000000 0.999959 1.000000 1.000000 1.000000 266353 22770 33670 9910 18414 29200 121935 24186 6268 266358 22770 33670 9910 18414 29200 121940 24186 6268 0.999962 1.000000 1.000000 1.000000 1.000000 1.000000 0.999918 1.000000 1.000000 133174 11385 16835 4955 9207 14600 60965 12093 3134 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4590675 Upper aerodigestive tract 0.018489 1244 transversion G C G>C 0.000 -2.135 111 PASS 1. 1. 1. 0.99 1. 1. 1. 1. 1. 1. 1. . . UNKNOWN . . 1.0 . . @ 32 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 32.0 . . . . . . . . . . -1.9060 . . . . . . . . 1.000 . . . 0.9999 1.0000 0.9999 0.9998 1 1.0000 1 1 0.9999 0.9999 0.9999 0.9999 1 1.0000 1 1 nonsynonymous_SNV nonsynonymous_SNV unknown . . . exonic exonic exonic . . . 0.0000 . . . 0.23 0.42 182 ENSG00000118094 TREH TREH . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM 1 . 0.989 0.993 . . . . . 0.9986263736263736 1.0 1.0 0.9947552447552448 1.0 II.62 . . V.26 -9.7 . 0.270000 . . . . . . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . -1.997 -1.997000 . . 0.270000 . . 1.0E-111 . . . . . . . . . -1.997 . 1. rs6589671 rs6589671 rs6589671 rs6589671 1 1538 255 1.I 0,0,255 +rs6589671 (chr11:118529078 G/C) 11 118529078 G C Transcript NM_007180.2: Miscalled variant? (Assembly: NG_023321.1) TREH +rs150696870 11 122526821 G C - UBASH3B 29884 Ubiquitin associated and SH3 domain containing B NM_032873.4 1 6903 1950 NP_116262.2 Q8TF42 substitution missense exon GRCh37 122526821 122526821 Chr11(GRCh37):g.122526821G>C 64 64 NM_032873.4:c.64G>C p.Val22Leu p.Val22Leu 1 609201 -98 5' 77.7282 9.92994 0.956919 10.1857 77.7282 9.92994 0.956919 10.1857 0 rs150696870 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.002594 0.000439 0.000276 0.000107 0.000000 0.000570 0.004435 0.004344 0.003112 0.004435 639 9 9 1 0 16 485 101 18 246312 20516 32550 9372 17416 28072 109354 23248 5784 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000086 0.000000 3 0 0 0 0 0 2 1 0 631 9 9 1 0 16 479 99 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8548 4377 12925 36 3 39 0.00419385 0.000684932 0.00300833 0.00419385 0.000684932 0.00300833 25 transversion G C G>C 1.000 1.174 V Val GTC 0.240 L Leu CTC 0.197 22 16 7 Dolphin 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.07 IV.32 unknown 0.0 0.0 255 PASS . 0.0018 . . 0.01 . 0.001 0.0014 . 0.004 . ENSG00000154127:ENST00000284273:exon1:c.G64C:p.V22L UBASH3B:uc001pyi.4:exon1:c.G64C:p.V22L UBASH3B:NM_032873:exon1:c.G64C:p.V22L . . 0.5 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.336 . @ . . . . . 1 0.261 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ctc|V22L|UBASH3B|mRNA|CODING|NM_032873|NM_032873.ex.1) 0.0007 0.003 0.0042 0.0007 0.003 0.0042 . -0.1858 -0.080 -0.186 c . . . . . 2.446e-03 . . . 0.0009 0.0029 0.0002 0 0.0074 0.0054 0.0029 0.0008 0.0007 0.0044 0.0002 0 0.0081 0.0081 0.0032 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.213 . . exonic exonic exonic . . 0.382 0.0010 . . . 0.22 0.49 182 ENSG00000154127 UBASH3B UBASH3B . . . 1.000 0.747 . 164 0.00252401 64976 159 0.00265062 59986 Uncertain_significance . 0 . 0.406 . . . . D 0.645 0.051 . . 37 . 0.084 . . 0.237 . . . 0.246 0.387 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.360 . . 0.372 . . . . . . 0 0.254 . . . . . 0.281 . 0.390 . HET 0.02 rs150696870 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 VII.36 5.39E-4 ENST00000284273 IV.35 III.43 . 0.360000 Q8TF42 . . . 0.003008 . 0.416 . . III.43 0.0003 0.0024 0.0003 0.0001 0 0.0043 0.0042 0.0027 0.0006 0.0006 0.0039 0.0012 0 0 0.0049 0.0061 0.0051 . . 0.477 . 0.799 0.799000 . . 0.360000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.418 . 0.337 0.799 0.809 0.01 . . rs150696870 rs150696870 1 1538 10 1/0 0,255,255 +rs199646713 11 124266726 G A - OR8B3 8472 Olfactory receptor, family 8, subfamily B, member 3 NM_001005467.1 -1 942 942 NP_001005467.1 Q8NGG8 substitution synonymous exon GRCh37 124266726 124266726 Chr11(GRCh37):g.124266726G>A 522 522 NM_001005467.1:c.522C>T p.Ile174= p.Ile174Ile 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs199646713 yes no Frequency 1 G 0.000000 0 0.001137 0.000869 0.001833 0.002135 0.000387 0.003989 0.000557 0.000444 0.001005 0.003989 292 20 57 19 7 106 66 11 6 256928 23020 31094 8900 18096 26572 118512 24764 5970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 292 20 57 19 7 106 66 11 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6358688 Prostate 0.000567 1764 transition C T C>T 0.992 1.013 I Ile ATC 0.481 I Ile ATT 0.356 174 194 PASS . . . . . . . . . . . ENSG00000196661:ENST00000354597:exon1:c.C522T:p.I174I OR8B3:uc010saj.2:exon1:c.C522T:p.I174I OR8B3:NM_001005467:exon1:c.C522T:p.I174I . . 0.1438849 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I174|OR8B3|mRNA|CODING|NM_001005467|NM_001005467.ex.1) . . . . . . . . . . . . . . . . 2.955e-03 . . . 0.0026 0.0027 0.0006 0 0 0.0012 0.0047 0.0098 0.0027 0.0023 0.0006 0 0 0.0009 0.0048 0.0098 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.18 0.19 182 ENSG00000196661 OR8B3 OR8B3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199646713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.58 0.0011 0.0013 0.0019 0.0022 0.0004 0.0005 0.0006 0.0012 0.0040 0.0005 0.0002 0 0 0 0 6.868e-05 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs55989857 rs55989857 rs55989857 rs199646713 1 1538 10 1/0 0,216,255 +rs112614178 11 124266758 G A - OR8B3 8472 Olfactory receptor, family 8, subfamily B, member 3 NM_001005467.1 -1 942 942 NP_001005467.1 Q8NGG8 substitution missense exon GRCh37 124266758 124266758 Chr11(GRCh37):g.124266758G>A 490 490 NM_001005467.1:c.490C>T p.Leu164Phe p.Leu164Phe 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs112614178 yes no Frequency 1 G 0.000000 0 0.001107 0.001115 0.000720 0.002951 0.000057 0.002967 0.000897 0.000794 0.000520 0.002967 272 24 22 26 1 77 100 19 3 245750 21528 30574 8812 17698 25950 111492 23932 5764 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 272 24 22 26 1 77 100 19 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.898 0.448 L Leu CTT 0.129 F Phe TTT 0.454 164 11 11 Elephant 1 0 0 0 0 4.IX 5.II 111 132 22 C15 0.00 21.82 Deleterious 0 IV.32 bad 3.075E-3 8.665E-5 203 PASS . . . . . . . . . . . ENSG00000196661:ENST00000354597:exon1:c.C490T:p.L164F OR8B3:uc010saj.2:exon1:c.C490T:p.L164F OR8B3:NM_001005467:exon1:c.C490T:p.L164F . . 0.16770187 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.649 . @ . . . . . 1 0.724 . . 161.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L164F|OR8B3|mRNA|CODING|NM_001005467|NM_001005467.ex.1) . . . . . . . -0.5845 -0.485 -0.585 c . . . . . 7.733e-03 . . . 0.0152 0.0086 0.0011 0.0010 0.0003 0.0055 0.0128 0.0216 0.0167 0.0071 0.0012 0.0012 0.0002 0.0038 0.0094 0.0218 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.386 @ . . . 0.25 0.19 182 ENSG00000196661 OR8B3 OR8B3 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . . . . . . 37 . 0.001 . . 0.021 . . . 0.096 0.304 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.649 . . 0 0 0 0 0 0 . 0.235 . . 0.319 . . . . . . 0 0.440 . . . . . 0.114 . 0.185 . HET 0.08 rs112614178 . . . . . . . . . . . . IV.79 0.004283 ENST00000354597 III.46 III.46 . 0.360000 Q8NGG8 . . . . . 0.174 . . III.46 0.0017 0.0012 0.0007 0.0030 6.18e-05 0.0009 0.0010 0.0006 0.0030 0.0001 0.0002 0 0 0 0.0003 0.0003 0 . . 0.133 . 2.225 2.225000 . . 0.360000 . . 1.0E-203 0.000 0.063 . 0.256 0.007 . 0.104 . 0.122 2.225 -0.672 . rs55687708 rs55687708 rs55687708 rs112614178 1 1538 10 1/0 0,212,255 +. 11 124750448 GGAGT G - ROBO3 13433 Roundabout, axon guidance receptor, homolog 3 (Drosophila) NM_022370.3 1 4554 4161 NP_071765.2 Q96MS0 deletion frameshift exon GRCh37 124750448 124750451 Chr11(GRCh37):g.124750448_124750451del 4093 4096 NM_022370.3:c.4093_4096del p.Arg1365Valfs*53 p.Arg1365Valfs*53 27 608630 -54 5' 81.8459 7.81339 0.905701 8.0846 81.8459 7.81339 0.905701 7.22003 0 CGGA 255 Pass . . . . . . . . . . . . . ROBO3:NM_022370:exon27:c.4094_4097del:p.R1365fs . . 0.7468355 . . . 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 79 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000154134 ROBO3 ROBO3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . 13.1363 . . 5.VII IV.15 . 0.000000 Q96MS0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,13 +rs200255001 11 124750455 G A - ROBO3 13433 Roundabout, axon guidance receptor, homolog 3 (Drosophila) NM_022370.3 1 4554 4161 NP_071765.2 Q96MS0 substitution missense exon GRCh37 124750455 124750455 Chr11(GRCh37):g.124750455G>A 4100 4100 NM_022370.3:c.4100G>A p.Arg1367Gln p.Arg1367Gln 27 608630 -50 5' 81.8459 7.81339 0.905701 8.0846 81.8459 7.81339 0.905701 7.73471 0 rs200255001 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 0.000000 0.000000 0.000000 0.000100 0.000000 0.000000 0.000100 7 0 0 0 0 0 7 0 0 179156 16148 25228 8554 12224 23250 70128 18748 4876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM307110|COSM307110|COSM307110|COSM307110 Thyroid|Pancreas|Large intestine|Central nervous system 0.001339|0.000576|0.000901|0.000424 747|1736|2220|2361 transition G A G>A 0.835 -0.602 R Arg CGG 0.207 Q Gln CAG 0.744 1367 10 7 Opossum 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 117.51 XII.36 Tolerated 0.22 IV.32 good 6.207E-1 0.1402 142 PASS . . . . . . 0.0002 . . . 0.001 . . ROBO3:NM_022370:exon27:c.G4100A:p.R1367Q . . 0.10294118 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.402 . @ . . . . . 1 0.538 . . 68.0 . . . . . . . . . . -0.8753 -0.864 -0.875 c . . . . . 1.053e-04 . . . 0 4.858e-05 0 0 0 0.0001 0 0 0 6.121e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.636 . . exonic exonic exonic . . . 0.0002 . . . 0.1 0.26 182 ENSG00000154134 ROBO3 ROBO3 . . . 1.000 0.517 . 149 0.00229315 64976 146 0.0024339 59986 Uncertain_significance . 0 . 0.030 . . . . D 0.492 0.026 . . 37 . 0.439 . . 0.142 . . . 0.315 0.244 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.513 . . 0 0 0 0 0 0 . 0.112 . . 0.013 . . . . . . 2 0.395 . . . . . 0.075 . 0.101 . LowAF 0.36 rs200255001 . . . . . . . . . . . . 3.585 0.012034 . . . . 0.330000 Q96MS0 . . . . . 0.290 . . . 0 2.011e-05 0 0 0 0 5.411e-05 0 0 0 0.0001 0 0 0 0 0.0003 0 . . 0.609 . -0.000 -0.000000 . . 0.330000 . . 1.0E-142 0.678 0.282 . 0.376 0.962 . 0.075 . 0.277 -0.000 0.000 . . . rs200255001 rs200255001 1 1538 10 1/0 0,244,255 +rs374791792 11 124951275 C G - SLC37A2 20644 Solute carrier family 37 (glycerol-3-phosphate transporter), member 2 NM_198277.2 1 4196 1518 NP_938018.1 substitution intron GRCh37 124951275 124951275 Chr11(GRCh37):g.124951275C>G 695-42 695-42 NM_198277.2:c.695-42C>G p.? p.? 8 7 -42 3' 89.6117 6.51802 0.975972 7.39947 89.6117 6.51802 0.975972 7.79856 0 0.000373 0.000803 0.000279 0.000382 0.000186 0.000129 0.000228 0.001109 0.000562 0.001109 88 17 8 3 3 3 25 26 3 235772 21172 28642 7862 16160 23340 109806 23448 5342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 88 17 8 3 3 3 25 26 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.167 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . . . . . . . . . . 7.896e-06 . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.31 182 ENSG00000134955 SLC37A2 SLC37A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527157 . . . . . . 0.0001 9.04e-05 0.0002 0.0001 0.0001 9.631e-05 4.109e-05 0 0.0001 0.0021 0.0027 0.0046 0.0078 0.0007 0.0089 0.0017 0.0038 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 11 128857882 AAG A - ARHGAP32 17399 Rho GTPase activating protein 32 NM_001142685.1 -1 10111 6264 NP_001136157.1 A7KAX9 deletion intron GRCh37 128857882 128857883 Chr11(GRCh37):g.128857882_128857883del 1256+35 1256+36 NM_001142685.1:c.1256+35_1256+36del p.? p.? 12 12 608541 35 5' 73.2986 6.53406 0.846322 0 73.2986 6.53406 0.846322 0 0 TA 255 Pass . . . . . . . . . . . . . . . . 0.9142857 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000134909 ARHGAP32 ARHGAP32 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,4 +rs144832184 11 133714321 C T - SPATA19 30614 Spermatogenesis associated 19 NM_001291992.1 -1 793 504 NP_001278921.1 Q7Z5L4 substitution intron GRCh37 133714321 133714321 Chr11(GRCh37):g.133714321C>T 267+83 267+83 NM_001291992.1:c.267+83G>A p.? p.? 3 3 609805 83 5' 76.2827 5.1791 0.723479 5.39144 76.2827 5.1791 0.723479 5.39144 0 rs144832184 yes no Frequency/1000G 2 C 0.000000 0 0.003195 0.000800 0.009200 0.000000 0.006000 0.000000 0.004916 0.000802 0.002387 0.009934 0.000000 0.000000 0.008218 0.003150 0.006122 0.009934 152 7 2 3 0 0 123 11 6 30922 8724 838 302 1618 0 14968 3492 980 0.026316 0.142857 0.000000 0.333333 0.000000 0.000000 0.008130 0.090909 0.000000 4 1 0 1 0 0 1 1 0 144 5 2 1 0 0 121 9 6 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 0.125 255 PASS 0.002 0.0023 . . 0.01 0.0008 0.0032 . . 0.006 0.0092 . . . . . 0.46666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.23 0.25 182 ENSG00000166118 SPATA19 SPATA19 . . . . . . 379 0.00583292 64976 363 0.00605141 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144832184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0049 0.0024 0.0099 0 0.0032 0.0082 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144832184 rs144832184 1 1538 10 1/0 0,255,255 +rs189065592 11 133715197 G A - SPATA19 30614 Spermatogenesis associated 19 NM_001291992.1 -1 793 504 NP_001278921.1 Q7Z5L4 substitution intron GRCh37 133715197 133715197 Chr11(GRCh37):g.133715197G>A 78+67 78+67 NM_001291992.1:c.78+67C>T p.? p.? 1 1 609805 67 5' 81.1791 9.86249 0.993498 3.61115 81.1791 9.86249 0.993498 3.47127 0 Cryptic Acceptor Strongly Activated 133715184 5.37303 0.451066 71.1619 5.65796 0.680504 74.2775 rs189065592 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000800 0.009200 0.000000 0.006000 0.000000 0.004943 0.000802 0.002392 0.009934 0.000000 0.000000 0.008269 0.003152 0.006110 0.009934 153 7 2 3 0 0 124 11 6 30950 8728 836 302 1616 0 14996 3490 982 0.026144 0.142857 0.000000 0.333333 0.000000 0.000000 0.008065 0.090909 0.000000 4 1 0 1 0 0 1 1 0 145 5 2 1 0 0 122 9 6 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition C T C>T 0.000 0.205 255 PASS 0.002 0.0023 . . 0.01 0.0008 0.0032 . . 0.006 0.0092 . . . . . 0.37037036 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.3 0.34 182 ENSG00000166118 SPATA19 SPATA19 . . . . . . 378 0.00581753 64976 362 0.00603474 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189065592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0049 0.0024 0.0099 0 0.0032 0.0083 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189065592 rs189065592 1 1538 10 1/0 0,255,255 +rs144648369 11 134104770 C T - VPS26B 28119 VPS26 retromer complex component B NM_052875.4 1 3731 1011 NP_443107.1 Q4G0F5 substitution intron GRCh37 134104770 134104770 Chr11(GRCh37):g.134104770C>T 224-21 224-21 NM_052875.4:c.224-21C>T p.? p.? 2 1 610027 -21 3' 83.8647 8.30509 0.942327 2.70585 83.8647 8.30509 0.888803 2.76273 -0.0189333 134104773 -13.8503 rs144648369 yes no Frequency/1000G 2 0.000000 0 0.009784 0.000800 0.040900 0.000000 0.005000 0.004300 0.008855 0.000458 0.003590 0.010336 0.000266 0.032215 0.008045 0.005236 0.010975 0.032215 2425 11 122 102 5 976 1005 134 70 273842 24004 33984 9868 18798 30296 124922 25592 6378 0.000234 0.000000 0.000000 0.000203 0.000000 0.001320 0.000176 0.000000 0.000000 32 0 0 1 0 20 11 0 0 2361 11 122 100 5 936 983 134 70 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8539 4397 12936 55 5 60 0.00639981 0.00113585 0.00461681 0.00639981 0.00113585 0.00461681 66 transition C T C>T 0.031 1.013 255 PASS . 0.0032 0.01 . 0.01 0.0008 0.0098 0.0043 . 0.005 0.041 . . . . . 0.50961536 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||VPS26B|mRNA|CODING|NM_052875|) 0.0011 0.0046 0.0064 0.0011 0.0046 0.0064 . . . . . . . . . . 9.645e-03 . . . 0.0007 0.0109 0.0043 0 0.0037 0.0082 0.0173 0.0373 0.0006 0.0104 0.0041 0 0.0051 0.0083 0.0178 0.0373 . . . . . . intronic intronic intronic . . . 0.0098 . . . 0.33 0.16 182 ENSG00000151502 VPS26B VPS26B . . . . . . 410 0.00631002 64976 361 0.00601807 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144648369 . . . . . . . . . . . . . . . . . . . . . . . 0.004617 . . . . . 0.0006 0.0093 0.0035 0.0102 0.0003 0.0051 0.0080 0.0122 0.0322 0.0002 0.0052 0.0072 0.0132 0 0.0063 0.0082 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144648369 rs144648369 1 1538 10 1/0 0,255,255 +rs138604285 11 134217300 C T - GLB1L2 25129 Galactosidase, beta 1-like 2 NM_138342.3 1 3155 1911 NP_612351.2 Q8IW92 substitution synonymous exon GRCh37 134217300 134217300 Chr11(GRCh37):g.134217300C>T 531 531 NM_138342.3:c.531C>T p.His177= p.His177His 5 -28 5' 71.7343 7.09191 0.939246 4.46109 71.7343 7.09191 0.939246 IV.08 0 Cryptic Acceptor Strongly Activated 134217312 2.61807 0.198509 77.8811 3.71821 0.25884 81.1957 Glycoside hydrolase, family 35 Glycoside hydrolase, family 42, N-terminal rs138604285 yes no Frequency/1000G 2 C 0.000000 0 0.007987 0.000000 0.034800 0.000000 0.004000 0.002900 0.006392 0.000582 0.002876 0.002365 0.000053 0.026606 0.004774 0.006902 0.004947 0.026606 1772 14 99 24 1 819 605 178 32 277236 24038 34420 10150 18870 30782 126718 25790 6468 0.000115 0.000000 0.000058 0.000000 0.000000 0.000780 0.000032 0.000000 0.000309 16 0 1 0 0 12 2 0 1 1740 14 97 24 1 795 601 178 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8558 4401 12959 36 1 37 0.00418897 0.000227169 0.00284703 0.00418897 0.000227169 0.00284703 209 transition C T C>T 0.244 -0.924 H His CAC 0.587 H His CAT 0.413 177 255 PASS . 0.0014 0.0028 . 0.0026 . 0.008 0.0029 . 0.004 0.035 . GLB1L2:uc001qhp.3:exon5:c.C531T:p.H177H GLB1L2:NM_138342:exon5:c.C531T:p.H177H . . 0.4375 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H177|GLB1L2|mRNA|CODING|NM_138342|NM_138342.ex.5) 0.0002 0.0028 0.0042 0.0002 0.0028 0.0042 . -0.1252 . . . . . . . . 6.866e-03 . . . 0.0007 0.0074 0.0016 0.0002 0.0089 0.0039 0.0028 0.0270 0.0007 0.0073 0.0017 0 0.0077 0.0046 0.0043 0.0271 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0080 . . . 0.21 0.35 182 ENSG00000149328 GLB1L2 GLB1L2 . . . . . . 290 0.00446319 64976 250 0.00416764 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138604285 . 0.007 . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 3.1143 2.68E-4 ENST00000525089 V.93 -2.41 . . . . . . 0.002847 . . . . . 0.0005 0.0067 0.0028 0.0024 5.798e-05 0.0067 0.0048 0.0040 0.0266 0.0008 0.0040 0.0048 0 0 0.0083 0.0049 0.0102 . . . . 0.087 0.087000 . . . . . 1.0E-255 . . . . . . . . . 0.087 . 0.0042 . . rs138604285 rs138604285 1 1538 10 1/0 0,255,255 +. (chr12:87224 C/A) 12 87224 C A Not on a known gene +rs781784246 (chr12:87591 A/G) 12 87591 A G Not on a known gene +rs879955483 (chr12:88250 T/C) 12 88250 T C Not on a known gene +rs879966530 (chr12:88260 G/C) 12 88260 G C Not on a known gene +. (chr12:92311 C/A) 12 92311 C A No Alamut gene - other known genes: DDX11L11 DDX11L11 +rs4018425 12 148465 T C - FAM138D 33583 Family with sequence similarity 138, member D NR_026823.1 -1 1128 0 substitution exon GRCh37 148465 148465 Chr12(GRCh37):g.148465T>C 609 609 NR_026823.1:n.609A>G 3 45 3' 91.5957 8.80881 0.992702 3.53744 91.5957 8.80881 0.992702 3.85807 0 Cryptic Donor Strongly Activated 148465 0.007333 60.0203 5.39742 0.282452 72.1564 rs4018425 no no 0 0.000000 0 0.000977 0.002321 0.000000 0.000000 0.000000 0.000000 0.000802 0.000000 0.000000 0.002321 25 15 0 0 0 0 10 0 0 25578 6464 766 260 1448 0 12474 3340 826 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 15 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 RF 55 Genomes transition A G A>G 0.000 -1.167 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . 0.44 0.4 182 ENSG00000206114 FAM138D . . . dist\x3d57202\x3bdist\x3d27584 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs4018425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0010 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4018425 rs4018425 rs4018425 rs4018425 1 1538 10 1/0 0,249,255 +. 12 148477 G A - FAM138D 33583 Family with sequence similarity 138, member D NR_026823.1 -1 1128 0 substitution exon GRCh37 148477 148477 Chr12(GRCh37):g.148477G>A 597 597 NR_026823.1:n.597C>T 3 33 3' 91.5957 8.80881 0.992702 3.53744 91.5957 8.80881 0.992702 3.22655 0 0.000748 0.001563 0.002639 0.000000 0.000000 0.000000 0.000565 0.000000 0.000000 0.002639 19 10 2 0 0 0 7 0 0 25388 6400 758 272 1440 0 12380 3310 828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 10 2 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition C T C>T 0.000 -0.037 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 66.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000206114 FAM138D . . . dist\x3d57214\x3bdist\x3d27572 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0007 0.0026 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs2650190 12 176120 C G - IQSEC3 29193 IQ motif and Sec7 domain 3 NM_001170738.1 1 6976 3549 NP_001164209.1 Q9UPP2 substitution missense exon GRCh37 176120 176120 Chr12(GRCh37):g.176120C>G 72 72 NM_001170738.1:c.72C>G p.Asn24Lys p.Asn24Lys 1 612118 -483 5' 64.6342 III.37 0.093629 6.52926 64.6342 III.37 0.093629 6.52926 0 rs2650190 yes no Frequency/1000G 2 C 0.000000 0 0.001834 0.001375 0.001117 0.001047 0.000662 0.001610 0.001997 0.005878 0.001785 0.005878 256 16 25 8 7 33 108 52 7 139572 11634 22382 7642 10580 20494 54072 8846 3922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 256 16 25 8 7 33 108 52 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 1.000 3.111 N Asn AAC 0.536 K Lys AAG 0.575 24 14 6 Frog 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C0 353.86 0.00 Tolerated 0.32 II.89 unknown 0.0 0.0 191 PASS 0.07 0.05 0.05 0.03 0.04 . . . . . . . IQSEC3:uc001qhw.2:exon1:c.C72G:p.N24K IQSEC3:NM_001170738:exon1:c.C72G:p.N24K . . 0.13636364 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.740 . @ . . . . . 1 0.728 . . 154.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N24K|IQSEC3|mRNA|CODING|NM_001170738|NM_001170738.ex.1) . . . . . . . 0.1043 0.092 0.104 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.315 @ . . . 0.39 0.5 182 ENSG00000120645 IQSEC3 IQSEC3 . . . 0.998 0.367 . . . . . . . Uncertain_significance . 0 . 0.012 . . . . D 0.934 0.400 . . 37 . 0.066 . . 0.026 . . . 0.482 0.437 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.512 . . . . . 0.414 . 0.191 . LowAF 0.01 . . . . . . . . 0.04624542124542125 0.06707317073170732 0.052486187845303865 0.03146853146853147 0.040897097625329816 10.0887 . . III.68 II.77 . 0.010000 . . . . . . 0.138 . . II.77 0.0014 0.0013 0.0010 0.0011 0.0007 0.0002 0.0016 0.0016 0.0016 0.0014 0.0043 0.0058 0 0.0007 0.0217 0.0035 0.0026 . . 0.080 . 0.732 0.732000 . . 0.010000 . . 1.0E-191 1.000 0.715 . 0.888 1.000 . 0.301 . 0.309 0.732 0.853 0.07 rs2650190 rs2650190 rs2650190 rs2650190 1 1538 10 1/0 0,210,255 +rs762802210 12 330742 T G - SLC6A13 11046 Solute carrier family 6 (neurotransmitter transporter), member 13 NM_016615.4 -1 2226 1809 NP_057699.2 Q9NSD5 substitution intron GRCh37 330742 330742 Chr12(GRCh37):g.330742T>G 1516-30 1516-30 NM_016615.4:c.1516-30A>C p.? p.? 14 13 615097 -30 3' 83.5183 XI.57 0.986345 13.8876 83.5183 XI.57 0.986345 14.1337 0 330742 -61.238 rs762802210 yes no Frequency 1 T 0.000000 0 0.000975 0.000490 0.002723 0.001653 0.001182 0.001117 0.000776 0.000619 0.001166 0.002723 161 9 39 5 14 14 65 11 4 165086 18386 14320 3024 11848 12532 83760 17784 3432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 161 9 39 5 14 14 65 11 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.205 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . 0.3390 . . . . . . . . 5.634e-04 . . . 0.0002 0.0003 0.0006 0 0 0.0002 0 0.0002 0.0001 0.0004 0.0006 0 0.0014 0.0005 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000010379 SLC6A13 SLC6A13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs762802210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.17 0.0006 0.0011 0.0027 0.0018 0.0014 0.0007 0.0009 0.0015 0.0011 0.0003 0.0003 0.0031 0 0 0.0004 0.0002 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs147679992 12 344274 C T - SLC6A13 11046 Solute carrier family 6 (neurotransmitter transporter), member 13 NM_016615.4 -1 2226 1809 NP_057699.2 Q9NSD5 substitution synonymous exon GRCh37 344274 344274 Chr12(GRCh37):g.344274C>T 813 813 NM_016615.4:c.813G>A p.Thr271= p.Thr271Thr 7 615097 -19 5' 94.6711 X.63 0.998483 6.55743 94.6711 X.63 0.998483 6.43299 0 Cryptic Donor Strongly Activated 344273 0.003695 57.672 1.43942 0.014897 66.6328 Sodium rs147679992 yes no Frequency/1000G 2 C 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246234 15304 33580 9848 17248 30782 111688 22300 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes COSM3460317 Skin 0.000812 1232 transition G A G>A 0.008 -3.507 T Thr ACG 0.116 T Thr ACA 0.280 271 255 PASS . . . . . . . . . . . . . . . . 0.3875 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . -0.2147 . . . . . . . . 7.892e-06 . . . 0 1.102e-05 0 0 0 2.374e-05 0 0 0 9.416e-06 0 0 0 1.84e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.16 0.18 182 ENSG00000010379 SLC6A13 SLC6A13 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147679992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.061e-06 0 0 0 0 8.954e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 2062323 T TAGC - DCP1B 24451 Decapping mRNA 1B NM_152640.4 -1 2116 1854 NP_689853.3 Q8IZD4 insertion in-frame exon GRCh37 2062323 2062324 Chr12(GRCh37):g.2062323_2062324insAGC 782 783 NM_152640.4:c.782_783insGCT p.Gln261_Glu262insLeu p.Gln261_Glu262insLeu 7 609843 131 3' 94.8022 8.03778 0.990357 7.84688 94.8022 8.03778 0.990357 7.84688 0 GCT 255 Pass . . . . . . . . . . . . . DCP1B:NM_152640:exon7:c.782_783insGCT:p.Q261delinsQL . . 0.6847826 . . . 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 92 . . STOP_GAINED(HIGH||caa/cGCTaa|Q261R*|DCP1B|mRNA|CODING|NM_152640|NM_152640.ex.7) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000151065 DCP1B DCP1B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,16 +rs41276732 12 6061593 G A - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6061593 6061593 Chr12(GRCh37):g.6061593G>A 8079 8079 NM_000552.4:c.8079C>T p.Cys2693= p.Cys2693Cys 49 613160 -37 5' 71.4862 6.05228 0.557535 3.01513 71.4862 6.05228 0.557535 2.62368 0 von Willebrand factor rs41276732 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001270 0.000583 0.000000 0.000000 0.000000 0.000000 0.002565 0.000271 0.000928 0.002565 352 14 0 0 0 0 325 7 6 277182 24030 34418 10146 18870 30780 126686 25786 6466 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 350 14 0 0 0 0 323 7 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4404 12980 24 2 26 0.0027907 0.000453926 0.00199908 0.0027907 0.000453926 0.00199908 142 transition C T C>T 1.000 0.609 C Cys TGC 0.552 C Cys TGT 0.448 2693 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . ENSG00000110799:ENST00000261405:exon49:c.C8079T:p.C2693C VWF:uc001qnn.1:exon49:c.C8079T:p.C2693C VWF:NM_000552:exon49:c.C8079T:p.C2693C . . 0.5084746 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 59.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C2693|VWF|mRNA|CODING|NM_000552|NM_000552.ex.49) 0.0005 0.002 0.0028 0.0005 0.002 0.0028 . 0.9618 . . . . . . . . 1.555e-03 . . . 0.0004 0.0011 0 0 0.0003 0.0023 0.0014 0 0.0003 0.0014 0 0 0.0002 0.0027 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.26 0.34 182 ENSG00000110799 VWF VWF . . . . . . 92 0.00141591 64976 91 0.00151702 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41276732 . . . . . . . . . . . . . . . . . . . . . . . 0.001999 . . . . . 0.0003 0.0013 0 0 0 0.0002 0.0027 0.0011 0 0.0010 0.0013 0 0 0 0.0009 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 rs41276732 rs41276732 rs41276732 rs41276732 1 1538 10 1/0 0,255,255 +rs79275181 12 6127535 T G - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6127535 6127535 Chr12(GRCh37):g.6127535T>G 5049 5049 NM_000552.4:c.5049A>C p.Ala1683= p.Ala1683Ala 28 613160 -5 5' 75.5367 6.72735 0.397206 7.53521 75.5367 6.72735 0.308454 7.29171 -0.0744802 von Willebrand factor rs79275181 yes no Frequency 1 T uncertain_significance 0.000000 0 RCV000307103.1|RCV000291213.1 germline|germline clinical testing|clinical testing VUS|VUS 1|1 not specified|von Willebrand disorder COSM293279|COSM293279|COSM293279|COSM293279|COSM293279|COSM293279 Urinary tract|Thyroid|Liver|Large intestine|Central nervous system|Breast 0.007440|0.001339|0.000422|0.000826|0.000832|0.000803 672|747|2371|2421|2405|2490 transversion A C A>C 0.000 0.205 A Ala GCA 0.226 A Ala GCC 0.403 1683 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon28:c.A5049C:p.A1683A VWF:uc001qnn.1:exon28:c.A5049C:p.A1683A VWF:NM_000552:exon28:c.A5049C:p.A1683A . . 0.34 . . germline 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . Uncertain//\@significance//\%//\@Uncertain//\@significance Uncertain_significance|Uncertain_significance RCV000291213.1|RCV000307103.1 von_Willebrand_disorder|not_specified MedGen:Orphanet:SNOMED_CT|MedGen C0042974:ORPHA903:128105004|CN169374 2 . . . 50.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcA/gcC|A1683|VWF|mRNA|CODING|NM_000552|NM_000552.ex.28) . . . . . . . 0.0732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.23 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200368994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79275181 rs200368994 1 1538 10 1/0 0,255,255 +rs201825372 12 6127640 A G - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6127640 6127640 Chr12(GRCh37):g.6127640A>G 4944 4944 NM_000552.4:c.4944T>C p.Pro1648= p.Pro1648Pro 28 613160 -110 5' 75.5367 6.72735 0.397206 7.53521 75.5367 6.72735 0.397206 7.53521 0 von Willebrand factor, type A von Willebrand factor rs201825372 yes no Frequency 1 G uncertain_significance 0.000000 0 RCV000397804.1 germline clinical testing VUS 1 not specified COSM1177929|COSM1177929|COSM1177929|COSM1177929|COSM1177929 Urinary tract|Liver|Endometrium|Central nervous system|Breast 0.001488|0.000422|0.001524|0.000416|0.000803 672|2371|656|2405|2490 transition T C T>C 1.000 0.690 P Pro CCT 0.283 P Pro CCC 0.328 1648 182 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon28:c.T4944C:p.P1648P VWF:uc001qnn.1:exon28:c.T4944C:p.P1648P VWF:NM_000552:exon28:c.T4944C:p.P1648P . . 0.11764706 . . germline 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000397804.1 not_specified MedGen CN169374 2 . . . 85.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P1648|VWF|mRNA|CODING|NM_000552|NM_000552.ex.28) . . . . . . . I.65 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.27 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201825372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs201825372 rs201825372 1 1538 10 1/0 0,235,255 +. 12 6131973 A G - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6131973 6131973 Chr12(GRCh37):g.6131973A>G 3471 3471 NM_000552.4:c.3471T>C p.Cys1157= p.Cys1157Cys 26 613160 -68 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 13.9315 0 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor transition T C T>C 1.000 1.900 C Cys TGT 0.448 C Cys TGC 0.552 1157 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.T3471C:p.C1157C VWF:uc001qnn.1:exon26:c.T3471C:p.C1157C VWF:NM_000552:exon26:c.T3471C:p.C1157C . . 0.44827586 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C1157|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . 1.0338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.56 0.46 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs5748550 rs5748550 rs5748550 rs5748550 1 1538 10 1/0 0,247,255 +. 12 6131979 G A - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6131979 6131979 Chr12(GRCh37):g.6131979G>A 3465 3465 NM_000552.4:c.3465C>T p.Val1155= p.Val1155Val 26 613160 -74 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 13.4971 0 Cryptic Acceptor Strongly Activated 6131980 2.33216 0.00048 65.8963 3.31251 0.002366 65.8963 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor transition C T C>T 1.000 2.627 V Val GTC 0.240 V Val GTT 0.178 1155 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.C3465T:p.V1155V VWF:uc001qnn.1:exon26:c.C3465T:p.V1155V VWF:NM_000552:exon26:c.C3465T:p.V1155V . . 0.42857143 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V1155|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . 1.1354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.45 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs5748551 rs5748551 rs5748551 rs5748551 1 1538 10 1/0 0,244,255 +. 12 6132006 A C - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution stop gain exon GRCh37 6132006 6132006 Chr12(GRCh37):g.6132006A>C 3438 3438 NM_000552.4:c.3438T>G p.Tyr1146* p.Tyr1146* 26 613160 59 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.46809 0 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor transversion T G T>G 0.882 -0.521 Y Tyr TAT 0.438 * * TAG 0.234 1146 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.T3438G:p.Y1146X VWF:uc001qnn.1:exon26:c.T3438G:p.Y1146X VWF:NM_000552:exon26:c.T3438G:p.Y1146X . . 0.44604316 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.958 . @ . . . . . 0 0.472 . . 139.0 . . STOP_GAINED(HIGH|NONSENSE|taT/taG|Y1146*|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . -0.1324 -0.428 -0.132 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.028 @ . . . . . . ENSG00000110799 VWF VWF . . . 0.894 0.259 . . . . . . . Likely_pathogenic . 0 . 0.401 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.881 . . . HET 0.01 . . . . . . . . . . . . . 17.6865 . ENST00000261405 IV.92 -4.93 . 1.000000 . . . . . . 0.410 . . . . . . . . . . . . . . . . . . . . . . 0.924 . -0.907 -0.907000 . . 1.000000 . . 1.0E-255 0.654 0.280 . 0.444 1.000 . 0.108 . 0.047 -0.907 1.062 . . rs71312074 . . 1 1538 10 1/0 0,240,255 +. 12 6132009 G T - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6132009 6132009 Chr12(GRCh37):g.6132009G>T 3435 3435 NM_000552.4:c.3435C>A p.Arg1145= p.Arg1145Arg 26 613160 56 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.0953 0 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor transversion C A C>A 0.984 -0.117 R Arg CGC 0.190 R Arg CGA 0.110 1145 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.C3435A:p.R1145R VWF:uc001qnn.1:exon26:c.C3435A:p.R1145R VWF:NM_000552:exon26:c.C3435A:p.R1145R . . 0.42068964 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 145.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R1145|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . 0.9647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 12 6132010 C T - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution missense exon GRCh37 6132010 6132010 Chr12(GRCh37):g.6132010C>T 3434 3434 NM_000552.4:c.3434G>A p.Arg1145His p.Arg1145His 26 613160 55 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 8.78783 0 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor 0.000020 0.000000 0.000095 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 1 0 1 0 0 0 0 0 0 50038 4950 10528 1256 7480 6090 17530 730 1474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes transition G A G>A 1.000 5.209 R Arg CGC 0.190 H His CAC 0.587 1145 12 12 Zebrafish 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C25 0.00 28.82 Deleterious 0 III.34 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.G3434A:p.R1145H VWF:uc001qnn.1:exon26:c.G3434A:p.R1145H VWF:NM_000552:exon26:c.G3434A:p.R1145H . . 0.44055945 . . @ 63 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.769 . @ . . . . . 1 0.996 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1145H|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . 0.3699 0.407 0.370 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.904 . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000110799 VWF VWF . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.447 . . . . D 0.956 0.529 . . 37 . 0.885 . . 0.867 . . . 0.035 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.214 . . . . . 0.875 . 0.707 . HET 0.4 . . . . . . . . . . . . . 17.471 . ENST00000261405 IV.92 IV.92 . 0.470000 P04275 . . . . . 0.965 . . IV.92 0 1.998e-05 9.498e-05 0 0 0 0 0 0 . . . . . . . . . . 0.924 . 2.440 2.440000 . . 0.470000 . . 1.0E-255 1.000 0.715 . 0.463 0.998 . 0.812 . 0.441 2.440 0.871 . . . . . 1 1538 10 1/0 0,239,255 +. 12 6132098 C A - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution intron GRCh37 6132098 6132098 Chr12(GRCh37):g.6132098C>A 3380-34 3380-34 NM_000552.4:c.3380-34G>T p.? p.? 26 25 613160 -34 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.29485 0 Cryptic Acceptor Strongly Activated 6132085 6.98537 0.032305 77.0626 7.24933 0.183457 82.6592 transversion G T G>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.37634408 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||VWF|mRNA|CODING|NM_000552|) . . . . . . . -0.1570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.35 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs56196603 rs56196603 rs56196603 rs56196603 1 1538 10 1/0 0,255,255 +rs141891222 12 6601619 G A - MRPL51 14044 Mitochondrial ribosomal protein L51 NM_016497.3 -1 677 387 NP_057581.2 Q4U2R6 substitution missense exon GRCh37 6601619 6601619 Chr12(GRCh37):g.6601619G>A 205 205 NM_016497.3:c.205C>T p.His69Tyr p.His69Tyr 3 611855 15 3' 79.383 8.21377 0.273331 4.57112 79.383 8.21377 0.37717 4.25908 0.126634 Ribosomal protein L51, mitochondrial rs141891222 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.009900 0.001400 0.006559 0.001471 0.001795 0.004130 0.000055 0.000000 0.008916 0.018892 0.005401 0.018892 1723 35 55 38 1 0 1082 479 33 262674 23800 30636 9202 18152 28066 121354 25354 6110 0.000107 0.000000 0.000000 0.000000 0.000000 0.000000 0.000148 0.000394 0.000000 14 0 0 0 0 0 9 5 0 1695 35 55 38 1 0 1064 469 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8527 4399 12926 73 7 80 0.00848837 0.00158874 0.00615101 0.00848837 0.00158874 0.00615101 186 transition C T C>T 1.000 6.097 H His CAC 0.587 Y Tyr TAC 0.562 69 11 11 C. elegans 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C65 0.00 83.33 Deleterious 0 3.XI bad 3.892E-4 9.497E-5 255 PASS . 0.0041 . . 0.01 . 0.0022 0.0014 . 0.0099 . ENSG00000111639:ENST00000229238:exon3:c.C205T:p.H69Y MRPL51:uc001qom.2:exon3:c.C205T:p.H69Y MRPL51:NM_016497:exon3:c.C205T:p.H69Y . . 0.4528302 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.905 . @ . . . . . 1 0.904 . . 53.0 . . . 0.0016 0.0062 0.0085 0.0016 0.0062 0.0085 . 0.9754 0.929 0.975 c . . . . . . . . . 0.0016 0.0044 0.0009 0 0.0160 0.0071 0.0058 0 0.0019 0.0056 0.0009 0 0.0175 0.0080 0.0060 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.872 0.0022 . . . 0.25 0.36 182 ENSG00000111639 MRPL51 MRPL51 . . . 1.0 0.983 . 441 0.00678712 64976 430 0.00716834 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.687 . . 0.777 . . . 0.806 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.856 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.784 . . . . . 0.943 . 0.766 . HET 0 rs141891222 . 0.007 . . . . . 0.004120879120879121 0.0 0.0 0.0 0.011873350923482849 19.3309 0.001338 ENST00000229238 V.66 V.66 . 0.000000 Q4U2R6 . . . 0.006151 . 0.690 . . V.66 0.0014 0.0063 0.0018 0.0042 0 0.0196 0.0084 0.0043 0 0.0016 0.0085 0.0024 0.0033 0.0006 0.0146 0.0123 0.0112 . . 0.401 . 2.672 2.672000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.587 0.979 . 0.979 . 0.652 2.672 0.917 0.01 . . rs141891222 rs141891222 1 1538 10 1/0 0,255,255 +rs141891222 12 6601619 G A - NCAPD2 24305 Non-SMC condensin I complex, subunit D2 NM_014865.3 1 4806 4206 NP_055680.3 Q15021 substitution upstream GRCh37 6601619 6601619 Chr12(GRCh37):g.6601619G>A -1725 -1725 NM_014865.3:c.-1725G>A p.? p.? 1 615638 -1702 5' 94.6711 X.63 0.995015 6.23733 94.6711 X.63 0.995015 6.23733 0 Cryptic Donor Strongly Activated 6601616 0.007829 60.4442 3.69186 0.28493 64.8065 rs141891222 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.009900 0.001400 0.006559 0.001471 0.001795 0.004130 0.000055 0.000000 0.008916 0.018892 0.005401 0.018892 1723 35 55 38 1 0 1082 479 33 262674 23800 30636 9202 18152 28066 121354 25354 6110 0.000107 0.000000 0.000000 0.000000 0.000000 0.000000 0.000148 0.000394 0.000000 14 0 0 0 0 0 9 5 0 1695 35 55 38 1 0 1064 469 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8527 4399 12926 73 7 80 0.00848837 0.00158874 0.00615101 0.00848837 0.00158874 0.00615101 186 transition G A G>A 1.000 6.097 255 PASS . 0.0041 . . 0.01 . 0.0022 0.0014 . 0.0099 . ENSG00000111639:ENST00000229238:exon3:c.C205T:p.H69Y MRPL51:uc001qom.2:exon3:c.C205T:p.H69Y MRPL51:NM_016497:exon3:c.C205T:p.H69Y . . 0.4528302 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.905 . @ . . . . . 1 0.904 . . 53.0 . . . 0.0016 0.0062 0.0085 0.0016 0.0062 0.0085 . 0.9754 0.929 0.975 c . . . . . . . . . 0.0016 0.0044 0.0009 0 0.0160 0.0071 0.0058 0 0.0019 0.0056 0.0009 0 0.0175 0.0080 0.0060 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.872 0.0022 . . . 0.25 0.36 182 ENSG00000111639 MRPL51 MRPL51 . . . 1.0 0.983 . 441 0.00678712 64976 430 0.00716834 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.687 . . 0.777 . . . 0.806 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.856 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.784 . . . . . 0.943 . 0.766 . HET 0 rs141891222 . 0.007 . . . . . 0.004120879120879121 0.0 0.0 0.0 0.011873350923482849 19.3309 0.001338 ENST00000229238 V.66 V.66 . 0.000000 Q4U2R6 . . . 0.006151 . 0.690 . . V.66 0.0014 0.0063 0.0018 0.0042 0 0.0196 0.0084 0.0043 0 0.0016 0.0085 0.0024 0.0033 0.0006 0.0146 0.0123 0.0112 . . 0.401 . 2.672 2.672000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.587 0.979 . 0.979 . 0.652 2.672 0.917 0.01 . . rs141891222 rs141891222 1 1538 10 1/0 0,255,255 +rs75202400 12 6624111 G A - NCAPD2 24305 Non-SMC condensin I complex, subunit D2 NM_014865.3 1 4806 4206 NP_055680.3 Q15021 substitution intron GRCh37 6624111 6624111 Chr12(GRCh37):g.6624111G>A 987+25 987+25 NM_014865.3:c.987+25G>A p.? p.? 9 9 615638 25 5' 74.7286 VI.16 0.649406 3.38835 74.7286 VI.16 0.649406 3.36828 0 rs75202400 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.002779 0.000000 0.000380 0.003877 0.000053 0.000000 0.003374 0.010535 0.002947 0.010535 767 0 13 39 1 0 425 270 19 275956 24026 34220 10060 18856 30758 125960 25628 6448 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000156 0.000000 6 0 0 0 0 0 4 2 0 755 0 13 39 1 0 417 266 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 73 transition G A G>A 0.000 -0.037 255 PASS . 0.0014 . . 0.004 . 0.0008 0.0014 . 0.003 . . . . . . 0.4923077 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . 0.0008 0.0012 . 0.0008 0.0012 . 0.0852 . . . . . . . . 2.550e-03 . . . 0 0.0016 0.0003 0 0.0092 0.0024 0.0042 0 0 0.0024 0.0004 0 0.0097 0.0035 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.44 0.14 182 ENSG00000010292 NCAPD2 NCAPD2 . . . . . . 115 0.00176988 64976 111 0.00185043 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs75202400 . . . . . . . . . . . . . . . . . . . . . . . 0.000769 . . . . . 0 0.0024 0.0004 0.0039 0 0.0105 0.0027 0.0022 0 0 0.0054 0.0012 0.0033 0.0006 0.0106 0.0080 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs75202400 rs75202400 1 1538 10 1/0 0,255,255 +rs142276680 12 6882538 C T - LAG3 6476 Lymphocyte-activation gene 3 NM_002286.5 1 1992 1578 NP_002277.4 P18627 substitution intron GRCh37 6882538 6882538 Chr12(GRCh37):g.6882538C>T 206+33 206+33 NM_002286.5:c.206+33C>T p.? p.? 2 2 153337 33 5' 84.0478 9.36876 0.991838 8.12251 84.0478 9.36876 0.991838 VII.07 0 Cryptic Acceptor Weakly Activated 6882547 0.465306 0.00062 70.7093 0.0145788 0.001768 73.4212 rs142276680 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.000000 0.004100 0.000000 0.004000 0.004300 0.006490 0.001422 0.002725 0.006482 0.000053 0.002017 0.009961 0.009398 0.008153 0.009961 1759 34 93 65 1 62 1227 225 52 271040 23902 34130 10028 18746 30732 123184 23940 6378 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000049 0.000167 0.000000 5 0 0 0 0 0 3 2 0 1749 34 93 65 1 62 1221 221 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8521 4402 12923 73 4 77 0.0084943 0.000907853 0.00592308 0.0084943 0.000907853 0.00592308 34 transition C T C>T 0.000 0.044 255 PASS . 0.0018 0.0028 . 0.004 . 0.0022 0.0043 . 0.004 0.0041 . . . . . 0.65217394 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . 0.0009 0.0059 0.0085 0.0009 0.0059 0.0085 . 0.6155 . . . . . . . . 6.276e-03 . . . 0.0015 0.0057 0.0023 0 0.0068 0.0096 0.0086 0.0022 0.0017 0.0061 0.0023 0 0.0079 0.0094 0.0058 0.0023 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.5 0.49 182 ENSG00000089692 LAG3 LAG3 . . . . . . 435 0.00669478 64976 424 0.00706832 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs142276680 . . . . . . . . . . . . . . . . . . . . . . . 0.005923 . . . . . 0.0014 0.0062 0.0027 0.0066 0 0.0093 0.0095 0.0078 0.0020 0.0015 0.0086 0.0036 0.0033 0.0006 0.0100 0.0135 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0085 . . rs142276680 rs142276680 1 1538 10 1/0 0,255,255 +. 12 6973157 A T - USP5 12628 Ubiquitin specific peptidase 5 (isopeptidase T) NM_001098536.1 1 3191 2577 NP_001092006.1 P45974 substitution intron GRCh37 6973157 6973157 Chr12(GRCh37):g.6973157A>T 2098+20 2098+20 NM_001098536.1:c.2098+20A>T p.? p.? 16 16 601447 20 5' 84.1408 9.87848 0.947517 X.92 84.1408 9.87848 0.947517 X.92 0 transversion A T A>T 0.000 -0.037 212 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.0935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000111667 USP5 USP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 12 7045908 GCAG G - ATN1 3033 Atrophin 1 NM_001007026.1 1 4351 3573 NP_001007027.1 delins in-frame exon GRCh37 7045908 7045911 Chr12(GRCh37):g.7045908_7045911delinsG 1478 1481 NM_001007026.1:c.1478_1481delinsG p.Gln493_Gln494delinsArg p.Gln493_Gln494delinsArg 5 607462 -814 5' 89.8591 9.60237 0.983781 11.1122 89.8591 9.60237 0.983781 11.1122 0 Atrophin-like G AGCA 255 Pass . . . . . . . . . . . . . . . . 0.2375 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 80 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000111676 ATN1 ATN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . III.62 . . 3.VII 0.246 . 0.370000 P54259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,62 +rs144280633 12 7045912 G A - ATN1 3033 Atrophin 1 NM_001007026.1 1 4351 3573 NP_001007027.1 substitution synonymous exon GRCh37 7045912 7045912 Chr12(GRCh37):g.7045912G>A 1482 1482 NM_001007026.1:c.1482G>A p.Gln494= p.Gln494Gln 5 607462 -813 5' 89.8591 9.60237 0.983781 11.1122 89.8591 9.60237 0.983781 11.1122 0 Atrophin-like rs144280633 yes no Frequency 1 G 0.000000 0 0.000050 0.000149 0.000287 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000287 11 2 9 0 0 0 0 0 0 221594 13392 31372 8452 16280 27444 98994 20790 4870 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 9 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 163 Exomes COSM3749229|COSM3749229|COSM3749229 Thyroid|Large intestine|Haematopoietic and lymphoid tissue 0.004016|0.000887|0.000283 747|2255|3530 transition G A G>A 0.528 -0.198 Q Gln CAG 0.744 Q Gln CAA 0.256 494 193 PASS . . . . . . . . . . . . . . . . 0.1125 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . I.50 . . . . . . . . 3.954e-03 . . . 0 4.518e-05 0.0003 0 0 0 0 0 0 3.772e-05 0.0003 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.4 182 ENSG00000111676 ATN1 ATN1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.964e-05 0.0003 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs144280633 rs144280633 1 1538 10 1/0 0,255,255 +rs61753202 12 7069836 T C - PTPN6 9658 Protein tyrosine phosphatase, non-receptor type 6 NM_080549.3 1 2389 1875 NP_536859.1 substitution missense exon GRCh37 7069836 7069836 Chr12(GRCh37):g.7069836T>C 1684 1684 NM_080549.3:c.1684T>C p.Ser562Pro p.Ser562Pro 15 176883 11 3' 82.5067 7.07253 0.804811 5.88867 82.5067 7.07253 0.854101 6.12008 0.0204147 Protein-tyrosine phosphatase, non-receptor type-6, -11 rs61753202 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.005000 0.000000 0.002519 0.000489 0.000323 0.011866 0.000000 0.000000 0.004421 0.000608 0.001863 0.011866 455 8 8 101 0 0 317 12 9 180624 16346 24792 8512 11866 22828 71696 19752 4832 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 455 8 8 101 0 0 317 12 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3165 1383 4548 17 1 18 0.00534255 0.000722543 0.00394218 0.00534255 0.000722543 0.00394218 78 transition T C T>C 0.000 -0.117 S Ser TCT 0.185 P Pro CCT 0.283 562 11 6 Cow -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Deleterious 0.05 IV.32 good 3.301E-2 0.1725 255 PASS . 0.0018 . . 0.01 . 0.0012 . . 0.005 0.001 ENSG00000111679:ENST00000456013:exon15:c.T1684C:p.S562P PTPN6:uc009zfl.1:exon15:c.T1684C:p.S562P PTPN6:NM_080549:exon15:c.T1684C:p.S562P . . 0.48076922 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.156 . @ . . . . . 1 0.257 . . 156.0 . . . 0.0007 0.0039 0.0053 0.0007 0.0039 0.0053 . -1.1637 -1.208 -1.164 c . . . . . 1.342e-03 . . . 0 0.0026 0 0 0 0.0061 0 0 0 0.0025 0 0 0.0038 0.0076 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.139 . . exonic exonic exonic . . 0.090 @ . . . 0.2 0.33 182 ENSG00000111679 PTPN6 PTPN6 . . . 1.000 0.747 . 248 0.00381679 64976 242 0.00403427 59986 Benign . 0 . . . . . . T 0.113 0.005 . . 37 . 0.048 . . 0.400 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 4 0.381 . . . . . 0.247 . 0.014 . HET 0.02 rs61753202 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 7.171 0.0 ENST00000456013 III.83 -1.22 . 0.340000 G3V0F8 . . . 0.003942 . 0.028 . . . 0.0004 0.0024 0.0003 0.0114 0 0.0006 0.0042 0.0013 0 0.0006 0.0033 0.0012 0.0232 0 0.0009 0.0054 0.0041 . . 0.351 . -0.253 -0.253000 . . 0.340000 . . 1.0E-255 0.000 0.063 . 0.108 0.002 . 0.168 . 0.391 -0.253 0.079 0.01 rs61753202 rs61753202 rs61753202 rs61753202 1 1538 10 1/0 0,239,255 +rs757270967 12 7947563 G C - NANOG 20857 Nanog homeobox NM_024865.3 1 2103 918 NP_079141.2 Q9H9S0 substitution missense exon GRCh37 7947563 7947563 Chr12(GRCh37):g.7947563G>C 790 790 NM_024865.3:c.790G>C p.Glu264Gln p.Glu264Gln 4 607937 289 3' 90.3313 X.76 0.971564 9.43487 90.3313 X.76 0.971564 9.43487 0 rs757270967 yes no Frequency 1 G 0.000000 0 0.000379 0.000344 0.000088 0.000430 0.000485 0.000293 0.000491 0.000214 0.000478 0.000491 61 6 2 2 7 5 35 2 2 161134 17458 22766 4654 14430 17072 71216 9350 4188 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 6 2 2 7 5 35 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427553|COSM5427553 Thyroid|Haematopoietic and lymphoid tissue 0.004016|0.000283 747|3530 transversion G C G>C 0.843 1.820 E Glu GAG 0.583 Q Gln CAG 0.744 264 12 11 Armadillo 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 29.27 0.00 Tolerated 0.29 III.14 213 PASS . . . . . . . . . . . . NANOG:uc009zfy.1:exon4:c.G790C:p.E264Q . . . 0.1954023 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.409 . @ . . . . . 1 0.463 . . 87.0 . . . . . . . . . . 0.0367 0.010 0.037 c . . . . . 1.389e-04 . . . 0 0.0005 0 0 0 0.0007 0 0.0008 0 0.0003 0 0 0 0.0004 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.928 . . exonic exonic exonic . . 0.481 @ . . . . . . ENSG00000111704 NANOG NANOG . . . 0.146 0.174 . . . . . . . Uncertain_significance . 0 . 0.257 . . . . D 0.594 0.040 . . 37 . 0.894 . . 0.835 . . . 0.708 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.396 . . 0.421 . . . . . . 0 0.357 . . . . . 0.546 . 0.206 . HET 0.09 rs757270967 . . . . . . . . . . . . XII.48 . . IV.17 IV.17 . 0.110000 Q9H9S0 . . . . . 0.374 . . IV.17 0 0.0002 9.098e-05 0.0002 0.0002 0 0.0002 0.0003 0.0003 0.0007 0.0014 0 0.0040 0.0028 0.0006 0.0019 0.0011 . . 0.924 . 2.044 2.044000 . . 0.110000 . . 1.0E-213 1.000 0.715 . 0.261 0.248 . 0.395 . 0.310 2.044 0.697 . rs11532316 rs11532316 rs6488763 rs11532316 1 1538 10 1/0 0,241,255 +. 12 8049330 G A - NANOGP1 23099 Nanog homeobox pseudogene 1 ENST00000607111.1 1 1786 0 substitution intron GRCh37 8049330 8049330 Chr12(GRCh37):g.8049330G>A 263+995 263+995 ENST00000607111.1:n.263+995G>A p.? p.? 1 1 995 5' 84.1408 9.87848 0.955012 3.79163 84.1408 9.87848 0.955012 3.79163 0 transition G A G>A 0.031 0.851 225 PASS . . . . . . . . . . . . . . . . 0.22950819 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 61.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . 0.26 0.09 182 ENSG00000255356 NANOGP1 . . . dist\x3d5538\x3bdist\x3d22494 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs74826360 rs74826360 1 1538 10 1/0 0,255,255 +. 12 8326972 G A - ZNF705A 32281 Zinc finger protein 705A NM_001004328.2 1 3438 903 NP_001004328.1 Q6ZN79 substitution stop gain exon GRCh37 8326972 8326972 Chr12(GRCh37):g.8326972G>A 63 63 NM_001004328.2:c.63G>A p.Trp21* p.Trp21* 2 51 3' 74.7801 5.83597 0.102441 1.28408 74.7801 5.83597 0.102441 1.54093 0 Cryptic Donor Strongly Activated 8326968 0.01306 58.375 4.21918 0.262943 68.4556 Krueppel-associated box COSM5428364|COSM5428364 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.563 1.900 W Trp TGG 1.000 * * TGA 0.489 21 217 PASS . . . . . . . . . . . . ZNF705A:uc001qud.1:exon2:c.G63A:p.W21X ZNF705A:NM_001004328:exon2:c.G63A:p.W21X . . 0.20689656 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.952 . @ . . . . . 0 0.661 . . 58.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W21*|ZNF705A|mRNA|CODING|NM_001004328|NM_001004328.ex.2) . . . . . . . 0.3004 0.009 0.300 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.224 @ . . . 0.24 0.19 182 ENSG00000196946 ZNF705A ZNF705A . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.364 . . . HET 0 . . . . . . . . . . . . . IX.58 . . I.57 I.57 . 1.000000 . . . . . . 0.195 . . . . . . . . . . . . . . . . . . . . . . 0.203 . 1.230 1.230000 . . 1.000000 . . 1.0E-217 1.000 0.715 . 0.244 0.441 . 0.554 . 0.288 1.230 0.562 . rs11235129 rs11235129 rs11235129 rs11235129 1 1538 10 1/0 0,255,255 +. 12 8327016 T C - ZNF705A 32281 Zinc finger protein 705A NM_001004328.2 1 3438 903 NP_001004328.1 Q6ZN79 substitution missense exon GRCh37 8327016 8327016 Chr12(GRCh37):g.8327016T>C 107 107 NM_001004328.2:c.107T>C p.Met36Thr p.Met36Thr 2 -33 5' 82.5954 11.1124 0.993225 5.67113 82.5954 11.1124 0.993225 VI.27 0 Cryptic Donor Strongly Activated 8327011 0.001837 62.5564 0.975176 0.00232 62.2532 Krueppel-associated box COSM6375263 Thyroid 0.002677 747 transition T C T>C 0.827 0.125 M Met ATG 1.000 T Thr ACG 0.116 36 11 11 Dolphin -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C65 0.00 81.04 Deleterious 0 III.47 bad 5.096E-5 7.949E-5 176 PASS . . . . . . . . . . . . ZNF705A:uc001qud.1:exon2:c.T107C:p.M36T ZNF705A:NM_001004328:exon2:c.T107C:p.M36T . . 0.10606061 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.020 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M36T|ZNF705A|mRNA|CODING|NM_001004328|NM_001004328.ex.2) . . . . . . . -0.3325 -0.518 -0.333 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.032 . . exonic exonic exonic . . 0.148 @ . . . . . . ENSG00000196946 ZNF705A ZNF705A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.033 0.002 . . 37 . 0.116 . . 0.147 . . . 0.780 0.203 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.860 . . 0 0 0 0 0 0 . 0.527 . . 0.588 . . . . . . 0 0.433 . . . . . 0.078 . 0.582 . LowAF 0 . . . . . . . . . . . . . 3.688 . . I.57 0.264 . 0.030000 Q6ZN79 . . . . . 0.212 . . . . . . . . . . . . . . . . . . . . . . 0.203 . 0.101 0.101000 . . 0.030000 . . 1.0E-176 1.000 0.715 . 0.182 0.854 . 0.276 . 0.108 0.101 0.615 . . . . . 1 1538 10 1/0 0,244,255 +rs769394294 12 8330033 A G - ZNF705A 32281 Zinc finger protein 705A NM_001004328.2 1 3438 903 NP_001004328.1 Q6ZN79 substitution missense exon GRCh37 8330033 8330033 Chr12(GRCh37):g.8330033A>G 757 757 NM_001004328.2:c.757A>G p.Lys253Glu p.Lys253Glu 5 439 3' 81.7547 6.07399 0.304312 4.65135 81.7547 6.07399 0.304312 4.65135 0 Zinc finger, C2H2 transition A G A>G 1.000 1.416 K Lys AAA 0.425 E Glu GAA 0.417 253 11 1 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 1 III.54 bad 8.693E-5 9.786E-5 181 PASS . . . . . . . . . . . ENSG00000196946:ENST00000359286:exon5:c.A757G:p.K253E ZNF705A:uc001qud.1:exon5:c.A757G:p.K253E ZNF705A:NM_001004328:exon5:c.A757G:p.K253E . . 0.115384616 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.001 . . 130.0 . . . . . . . . . . -1.6066 -1.573 -1.607 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.126 . . exonic exonic exonic . . 0.094 @ . . . . . . ENSG00000196946 ZNF705A ZNF705A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.073 0.003 . . 37 . 0.033 . . 0.431 . . . 0.011 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 0 0.010 . . . . . 0.063 . 0.064 . LowAF 1 . . . . . . . . . . . . . III.65 . ENST00000359286 I.17 -1.08 . . Q6ZN79 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.365 -0.365000 . . . . . 1.0E-181 0.132 0.232 . 0.043 0.170 . 0.355 . 0.022 -0.365 0.649 . . . . . 1 1538 10 1/0 0,216,255 +rs190462699 12 9016634 A T - A2ML1 23336 Alpha-2-macroglobulin-like 1 NM_144670.5 1 5272 4365 NP_653271.2 A8K2U0 substitution intron GRCh37 9016634 9016634 Chr12(GRCh37):g.9016634A>T 3717+30 3717+30 NM_144670.5:c.3717+30A>T p.? p.? 29 29 610627 30 5' 82.0699 7.82294 0.964965 5.74667 82.0699 7.82294 0.964965 5.95773 0 Cryptic Acceptor Strongly Activated 9016639 6.55998 0.820193 80.1978 IX.11 0.969609 86.6586 rs190462699 yes no Frequency/1000G 2 A 0.000000 0 0.001997 0.000800 0.003100 0.000000 0.004000 0.002900 0.003074 0.001099 0.001560 0.000000 0.000000 0.001730 0.005453 0.000508 0.002986 0.005453 834 26 53 0 0 52 671 13 19 271298 23654 33968 9916 18696 30056 123048 25598 6362 0.000037 0.000000 0.000059 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 5 0 1 0 0 0 4 0 0 824 26 51 0 0 52 663 13 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8210 3847 12057 42 5 47 0.00508968 0.00129803 0.00388301 0.00508968 0.00129803 0.00388301 21 transversion A T A>T 0.000 -0.117 255 PASS 0.002 0.0018 . . 0.004 0.0008 0.002 0.0029 . 0.004 0.0031 . . . . . 0.5714286 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0013 0.0039 0.0051 0.0013 0.0039 0.0051 . 0.0050 . . . . . . . . 2.834e-03 . . . 0.0011 0.0030 0.0016 0 0.0003 0.0049 0.0031 0.0017 0.0010 0.0028 0.0015 0 0.0002 0.0044 0.0016 0.0017 . . . . . . intronic intronic intronic . . . @ . . . 0.17 0.26 182 ENSG00000166535 A2ML1 A2ML1 . . . . . . 260 0.00400148 64976 250 0.00416764 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190462699 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2603013 0.003883 . . . . . 0.0010 0.0031 0.0015 0 0 0.0005 0.0055 0.0033 0.0017 0.0013 0.0029 0.0036 0 0 0.0006 0.0049 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0051 . . rs190462699 rs190462699 1 1538 10 1/0 0,255,255 +rs2432991 (chr12:9450462 G/A) 12 9450462 G A Not on a known gene +rs61917422 (chr12:9458254 G/T) 12 9458254 G T Not on a known gene +. (chr12:9459783 G/A) 12 9459783 G A Not on a known gene +rs200346295 (chr12:9459809 G/C) 12 9459809 G C Not on a known gene +. (chr12:9462681 T/TGCC) 12 9462681 T TGCC Not on a known gene +rs76145334 (chr12:9462682 A/G) 12 9462682 A G Not on a known gene +rs79999791 (chr12:9462683 A/T) 12 9462683 A T Not on a known gene +rs796175504 (chr12:9462685 A/T) 12 9462685 A T Not on a known gene +rs796735553 (chr12:9462686 C/T) 12 9462686 C T Not on a known gene +. (chr12:9464795 T/G) 12 9464795 T G Not on a known gene +. (chr12:9465257 G/C) 12 9465257 G C Not on a known gene +. (chr12:9465398 A/AGC) 12 9465398 A AGC Not on a known gene +. 12 9578777 C A - DDX12P 2737 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene NR_033399.1 -1 3909 0 substitution intron GRCh37 9578777 9578777 Chr12(GRCh37):g.9578777C>A 1678-61 1678-61 NR_033399.1:n.1678-61G>T p.? p.? 15 14 601151 -61 3' 95.0004 VII.66 0.980893 7.85646 95.0004 VII.66 0.980893 7.91869 0 Cryptic Acceptor Strongly Activated 9578770 IX.29 0.847986 80.5092 X.39 0.958471 85.2938 0.001685 0.002868 0.001319 0.003571 0.006861 0.000000 0.000974 0.000303 0.001136 0.006861 45 20 1 1 8 0 13 1 1 26714 6974 758 280 1166 0 13352 3304 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 20 1 1 8 0 13 1 1 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion G T G>T 0.000 -0.844 231 PASS . . . . . . . . . . . . . . . . 0.24742268 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . INTRON(MODIFIER||||DDX12P|Non-coding_transcript|NON_CODING|NR_033399|) . . . . . . . -0.5516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.2 0.14 182 ENSG00000214826 . DDX12P . dist\x3d6100\x3bdist\x3d6236 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0017 0.0013 0.0036 0.0069 0.0003 0.0010 0.0011 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs61917422 rs61917422 rs61917422 rs61917422 1 1538 10 1/0 0,241,255 +rs368360579 12 9580392 G T - DDX12P 2737 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene NR_033399.1 -1 3909 0 substitution intron GRCh37 9580392 9580392 Chr12(GRCh37):g.9580392G>T 1609+25 1609+25 NR_033399.1:n.1609+25C>A p.? p.? 13 13 601151 25 5' 94.6711 X.63 0.988684 5.51824 94.6711 X.63 0.988684 4.79801 0 rs368360579 no no 0 G 0.000000 0 0.005816 0.002251 0.008557 0.014599 0.000623 0.000000 0.009259 0.000000 0.010504 0.014599 174 19 7 4 1 0 133 0 10 29916 8442 818 274 1604 0 14364 3462 952 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 174 19 7 4 1 0 133 0 10 0 0 0 0 0 0 0 0 0 RF 36 Genomes transversion C A C>A 0.000 -1.489 181 PASS . . . . . . . . . . . . . . . . 0.11494253 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . INTRON(MODIFIER||||DDX12P|Non-coding_transcript|NON_CODING|NR_033399|) . . . . . . . -0.2982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.23 0.18 182 ENSG00000214826 . DDX12P . dist\x3d7715\x3bdist\x3d4621 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs368360579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0058 0.0086 0.0146 0.0006 0 0.0093 0.0105 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs79676368 rs368360579 1 1538 10 1/0 0,233,255 +rs202220933 12 11034812 G A - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution splice site GRCh37 11034812 11034812 Chr12(GRCh37):g.11034812G>A *18+4 *18+4 NM_001291315.1:c.*18+4C>T p.? p.? 5 5 168730 4 5' 83.8858 10.0302 0.960867 3.97861 84.4974 IX.89 0.95435 3.04693 -0.0188159 rs202220933 yes no Frequency 1 G 0.000000 0 0.003132 0.000962 0.001519 0.002516 0.007358 0.002099 0.002999 0.005917 0.004859 0.007358 860 23 52 25 138 64 376 151 31 274606 23900 34234 9936 18754 30488 125396 25518 6380 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000313 4 0 0 0 0 0 2 1 1 852 23 52 25 138 64 372 149 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.028 -1.005 220 PASS . . . . . . . . . . . . . . . . 0.21259843 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 254.0 . . . . . . . . . . -0.3589 . . . . . . . . 4.325e-03 . . . 0.0009 0.0037 0.0024 0.0119 0.0060 0.0038 0.0085 0.0027 0.0010 0.0043 0.0023 0.0101 0.0067 0.0045 0.0058 0.0028 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.57 0.16 182 ENSG00000231887 . PRH1-PRR4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . 0.0001 0.002 Name\x3ddgv475e1 . . . . . . 0.0007 0.0030 0.0015 0.0026 0.0073 0.0057 0.0027 0.0046 0.0021 0.0015 0.0044 0.0036 0 0.0081 0.0074 0.0050 0.0063 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.022 . . rs202220933 rs202220933 1 1538 10 1/0 0,196,255 +rs747861564 12 11214005 C T - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214005 11214005 Chr12(GRCh37):g.11214005C>T -14351 -14351 NM_001291315.1:c.-133-14218G>A p.? p.? 2 1 168730 -14218 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 rs747861564 yes no Frequency 1 0.000000 0 0.000502 0.000362 0.000383 0.000000 0.001002 0.000000 0.000204 0.002874 0.000502 0.002874 134 8 13 0 18 0 25 67 3 266680 22072 33964 10124 17960 30764 122498 23316 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 134 8 13 0 18 0 25 67 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4602801 Upper aerodigestive tract 0.000804 1244 transition G A G>A 0.008 0.205 181 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.G889A:p.V297M TAS2R46:uc001qzp.1:exon1:c.G889A:p.V297M TAS2R46:NM_176887:exon1:c.G889A:p.V297M . . 0.11494253 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.046 . . 87.0 . . . . . . . . . . -1.0562 -1.129 -1.056 c . . . . . 7.922e-06 . . . 0 1.112e-05 0 0 0.0003 0 0 0 0 9.484e-06 0 0 0.0002 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.225 @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.049 0.002 . . 37 . 0.258 . . 0.278 . . . 0.359 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.158 . . 0.268 . . . . . . 5 0.219 . . . . . 0.116 . 0.126 . LowAF 0.34 . . . . . . . . . . . . . IV.17 . ENST00000533467 II.54 I.59 . 0.200000 P59540 . . . . . 0.009 . . . 0 4.065e-06 2.98e-05 0 0 0 0 0 0 0.0012 0.0064 0.0299 0 0.0252 0.0624 0.0023 0.0059 . . 0.283 . 0.356 0.356000 . . 0.200000 . . 1.0E-181 0.000 0.063 . 0.083 0.003 . 0.015 . 0.077 0.356 -0.743 . . . . . 1 1538 10 1/0 0,233,255 +rs747861564 12 11214005 C T - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution missense exon GRCh37 11214005 11214005 Chr12(GRCh37):g.11214005C>T 889 889 NM_176887.2:c.889G>A p.Val297Met p.Val297Met 1 612774 Mammalian taste receptor rs747861564 yes no Frequency 1 0.000000 0 0.000502 0.000362 0.000383 0.000000 0.001002 0.000000 0.000204 0.002874 0.000502 0.002874 134 8 13 0 18 0 25 67 3 266680 22072 33964 10124 17960 30764 122498 23316 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 134 8 13 0 18 0 25 67 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4602801 Upper aerodigestive tract 0.000804 1244 transition G A G>A 0.008 0.205 V Val GTG 0.468 M Met ATG 1.000 297 1 1 1 0 0 5.IX 5.VII 84 105 21 181 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.G889A:p.V297M TAS2R46:uc001qzp.1:exon1:c.G889A:p.V297M TAS2R46:NM_176887:exon1:c.G889A:p.V297M . . 0.11494253 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.046 . . 87.0 . . . . . . . . . . -1.0562 -1.129 -1.056 c . . . . . 7.922e-06 . . . 0 1.112e-05 0 0 0.0003 0 0 0 0 9.484e-06 0 0 0.0002 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.225 @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.049 0.002 . . 37 . 0.258 . . 0.278 . . . 0.359 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.158 . . 0.268 . . . . . . 5 0.219 . . . . . 0.116 . 0.126 . LowAF 0.34 . . . . . . . . . . . . . IV.17 . ENST00000533467 II.54 I.59 . 0.200000 P59540 . . . . . 0.009 . . . 0 4.065e-06 2.98e-05 0 0 0 0 0 0 0.0012 0.0064 0.0299 0 0.0252 0.0624 0.0023 0.0059 . . 0.283 . 0.356 0.356000 . . 0.200000 . . 1.0E-181 0.000 0.063 . 0.083 0.003 . 0.015 . 0.077 0.356 -0.743 . . . . . 1 1538 10 1/0 0,233,255 +rs772092030 12 11214006 A T - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214006 11214006 Chr12(GRCh37):g.11214006A>T -14352 -14352 NM_001291315.1:c.-133-14219T>A p.? p.? 2 1 168730 -14219 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 Cryptic Donor Strongly Activated 11214006 V.07 0.009461 78.0039 5.85038 0.014796 78.4828 rs772092030 yes no Frequency 1 0.000000 0 0.000540 0.000409 0.000412 0.000000 0.001115 0.000000 0.000204 0.003088 0.000669 0.003088 144 9 14 0 20 0 25 72 4 266450 22006 33970 10126 17934 30760 122362 23314 5978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144 9 14 0 20 0 25 72 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4602838 Upper aerodigestive tract 0.000804 1244 transversion T A T>A 0.008 -0.682 185 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.T888A:p.H296Q TAS2R46:uc001qzp.1:exon1:c.T888A:p.H296Q TAS2R46:NM_176887:exon1:c.T888A:p.H296Q . . 0.125 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.057 . . 88.0 . . . . . . . . . . -1.9816 -1.962 -1.982 c . . . . . 7.922e-06 . . . 0 1.111e-05 0 0 0.0003 0 0 0 0 9.482e-06 0 0 0.0002 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.064 @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . 0.000 0.057 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.084 . . 0.265 . . . 0.013 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.047 . 0.019 . LowAF 1 . . . . . . . . . . . . . 2.669 . ENST00000533467 II.54 -2.26 . 1.000000 P59540 . . . . . 0.029 . . . 0 4.065e-06 2.98e-05 0 0 0 0 0 0 0.0013 0.0070 0.0319 0 0.0292 0.0674 0.0023 0.0080 . . 0.283 . -0.765 -0.765000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.016 . 0.000 -0.765 -1.868 . . . . . 1 1538 10 1/0 0,234,255 +rs772092030 12 11214006 A T - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution missense exon GRCh37 11214006 11214006 Chr12(GRCh37):g.11214006A>T 888 888 NM_176887.2:c.888T>A p.His296Gln p.His296Gln 1 612774 Mammalian taste receptor rs772092030 yes no Frequency 1 0.000000 0 0.000540 0.000409 0.000412 0.000000 0.001115 0.000000 0.000204 0.003088 0.000669 0.003088 144 9 14 0 20 0 25 72 4 266450 22006 33970 10126 17934 30760 122362 23314 5978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144 9 14 0 20 0 25 72 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4602838 Upper aerodigestive tract 0.000804 1244 transversion T A T>A 0.008 -0.682 H His CAT 0.413 Q Gln CAA 0.256 296 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 185 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.T888A:p.H296Q TAS2R46:uc001qzp.1:exon1:c.T888A:p.H296Q TAS2R46:NM_176887:exon1:c.T888A:p.H296Q . . 0.125 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.057 . . 88.0 . . . . . . . . . . -1.9816 -1.962 -1.982 c . . . . . 7.922e-06 . . . 0 1.111e-05 0 0 0.0003 0 0 0 0 9.482e-06 0 0 0.0002 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.064 @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . 0.000 0.057 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.084 . . 0.265 . . . 0.013 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.047 . 0.019 . LowAF 1 . . . . . . . . . . . . . 2.669 . ENST00000533467 II.54 -2.26 . 1.000000 P59540 . . . . . 0.029 . . . 0 4.065e-06 2.98e-05 0 0 0 0 0 0 0.0013 0.0070 0.0319 0 0.0292 0.0674 0.0023 0.0080 . . 0.283 . -0.765 -0.765000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.016 . 0.000 -0.765 -1.868 . . . . . 1 1538 10 1/0 0,234,255 +rs770054079 12 11214840 C A - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214840 11214840 Chr12(GRCh37):g.11214840C>A -15186 -15186 NM_001291315.1:c.-133-15053G>T p.? p.? 2 1 168730 -15053 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 rs770054079 yes no Frequency 1 0.000000 0 0.000015 0.000000 0.000029 0.000000 0.000000 0.000000 0.000016 0.000039 0.000000 0.000039 4 0 1 0 0 0 2 1 0 274338 23628 34180 10110 18656 30682 125094 25636 6352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5095454 Thymus 0.006579 152 transversion G T G>T 0.000 -0.360 190 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.G54T:p.V18V TAS2R46:uc001qzp.1:exon1:c.G54T:p.V18V TAS2R46:NM_176887:exon1:c.G54T:p.V18V . . 0.13513513 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.2789 . . . . . . . . 1.192e-04 . . . 0 5.673e-05 8.875e-05 0 0 4.871e-05 0 0.0001 0 5.786e-05 9.151e-05 0 0 5.624e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.226e-05 2.997e-05 0 0 0 1.806e-05 0 0 0 3.373e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . 0.043 . rs73268423 . . 1 1538 10 1/0 0,242,255 +rs770054079 12 11214840 C A - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution synonymous exon GRCh37 11214840 11214840 Chr12(GRCh37):g.11214840C>A 54 54 NM_176887.2:c.54G>T p.Val18= p.Val18Val 1 612774 Mammalian taste receptor rs770054079 yes no Frequency 1 0.000000 0 0.000015 0.000000 0.000029 0.000000 0.000000 0.000000 0.000016 0.000039 0.000000 0.000039 4 0 1 0 0 0 2 1 0 274338 23628 34180 10110 18656 30682 125094 25636 6352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5095454 Thymus 0.006579 152 transversion G T G>T 0.000 -0.360 V Val GTG 0.468 V Val GTT 0.178 18 190 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.G54T:p.V18V TAS2R46:uc001qzp.1:exon1:c.G54T:p.V18V TAS2R46:NM_176887:exon1:c.G54T:p.V18V . . 0.13513513 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.2789 . . . . . . . . 1.192e-04 . . . 0 5.673e-05 8.875e-05 0 0 4.871e-05 0 0.0001 0 5.786e-05 9.151e-05 0 0 5.624e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.226e-05 2.997e-05 0 0 0 1.806e-05 0 0 0 3.373e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . 0.043 . rs73268423 . . 1 1538 10 1/0 0,242,255 +rs201891491 12 11214857 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214857 11214857 Chr12(GRCh37):g.11214857T>C -15203 -15203 NM_001291315.1:c.-133-15070A>G p.? p.? 2 1 168730 -15070 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 New Acceptor Site 11214856 7.81325 0.898977 85.3393 rs201891491 yes no Frequency 1 0.000000 0 0.000098 0.000000 0.000090 0.000000 0.000111 0.000103 0.000133 0.000080 0.000000 0.000133 26 0 3 0 2 3 16 2 0 264704 23312 33254 9780 18076 29140 120088 24892 6162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 0 3 0 2 3 16 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1127571|COSM1127571 Thyroid|Prostate 0.001339|0.000567 747|1764 transition A G A>G 0.000 -2.942 199 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.A37G:p.I13V TAS2R46:uc001qzp.1:exon1:c.A37G:p.I13V TAS2R46:NM_176887:exon1:c.A37G:p.I13V . . 0.15789473 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.071 . . 76.0 . . . . . . . . . . -2.1736 -2.254 -2.174 c . . . . . 6.752e-03 . . . 0.0016 0.0044 0.0045 0.0044 0.0061 0.0040 0.0078 0.0067 0.0017 0.0046 0.0046 0.0053 0.0049 0.0043 0.0063 0.0067 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.030 @ . . . 0.29 0.15 182 ENSG00000226761 TAS2R46 TAS2R46 . . . 0.646 0.221 . . . . . . . Likely_benign . 0 . . . . . . T 0.018 0.001 . . 37 . 0.128 . . 0.174 . . . 0.090 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.026 . . 0.112 . . . . . . 5 0.010 . . . . . 0.065 . 0.012 . HET . . 0.120 0.109 . . . . . . . . . . 3.297 . ENST00000533467 II.39 -4.78 . 1.000000 P59540 . . . . . 0.003 . . . 0 0.0001 9.248e-05 0 0.0001 4.652e-05 0.0002 0 0.0001 0 3.383e-05 0 0 0 0.0003 0 0 . . 0.283 . -3.524 -3.524000 . . 1.000000 . . 1.0E-199 0.000 0.063 . 0.016 0.001 . 0.005 . 0.001 -3.524 -0.672 0.12 . . rs201891491 rs201891491 1 1538 10 1/0 0,243,255 +rs201891491 12 11214857 T C - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution missense exon GRCh37 11214857 11214857 Chr12(GRCh37):g.11214857T>C 37 37 NM_176887.2:c.37A>G p.Ile13Val p.Ile13Val 1 612774 Mammalian taste receptor rs201891491 yes no Frequency 1 0.000000 0 0.000098 0.000000 0.000090 0.000000 0.000111 0.000103 0.000133 0.000080 0.000000 0.000133 26 0 3 0 2 3 16 2 0 264704 23312 33254 9780 18076 29140 120088 24892 6162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 0 3 0 2 3 16 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1127571|COSM1127571 Thyroid|Prostate 0.001339|0.000567 747|1764 transition A G A>G 0.000 -2.942 I Ile ATA 0.163 V Val GTA 0.114 13 3 3 4 0 0 5.II 5.IX 111 84 29 199 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.A37G:p.I13V TAS2R46:uc001qzp.1:exon1:c.A37G:p.I13V TAS2R46:NM_176887:exon1:c.A37G:p.I13V . . 0.15789473 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.071 . . 76.0 . . . . . . . . . . -2.1736 -2.254 -2.174 c . . . . . 6.752e-03 . . . 0.0016 0.0044 0.0045 0.0044 0.0061 0.0040 0.0078 0.0067 0.0017 0.0046 0.0046 0.0053 0.0049 0.0043 0.0063 0.0067 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.030 @ . . . 0.29 0.15 182 ENSG00000226761 TAS2R46 TAS2R46 . . . 0.646 0.221 . . . . . . . Likely_benign . 0 . . . . . . T 0.018 0.001 . . 37 . 0.128 . . 0.174 . . . 0.090 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.026 . . 0.112 . . . . . . 5 0.010 . . . . . 0.065 . 0.012 . HET . . 0.120 0.109 . . . . . . . . . . 3.297 . ENST00000533467 II.39 -4.78 . 1.000000 P59540 . . . . . 0.003 . . . 0 0.0001 9.248e-05 0 0.0001 4.652e-05 0.0002 0 0.0001 0 3.383e-05 0 0 0 0.0003 0 0 . . 0.283 . -3.524 -3.524000 . . 1.000000 . . 1.0E-199 0.000 0.063 . 0.016 0.001 . 0.005 . 0.001 -3.524 -0.672 0.12 . . rs201891491 rs201891491 1 1538 10 1/0 0,243,255 +rs200226376 12 11214870 A T - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214870 11214870 Chr12(GRCh37):g.11214870A>T -15216 -15216 NM_001291315.1:c.-133-15083T>A p.? p.? 2 1 168730 -15083 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 rs200226376 yes no Frequency 1 0.000000 0 0.000308 0.000129 0.000277 0.000211 0.000281 0.000427 0.000357 0.000243 0.000165 0.000427 80 3 9 2 5 12 42 6 1 259542 23214 32524 9484 17814 28096 117680 24672 6058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 3 9 2 5 12 42 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1127570|COSM1127570 Skin|Prostate 0.000812|0.000567 1232|1764 transversion T A T>A 0.000 -1.328 198 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.T24A:p.I8I TAS2R46:uc001qzp.1:exon1:c.T24A:p.I8I TAS2R46:NM_176887:exon1:c.T24A:p.I8I . . 0.15384616 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.2790 . . . . . . . . 9.456e-03 . . . 0.0020 0.0071 0.0081 0.0062 0.0092 0.0072 0.01 0.0093 0.0021 0.0077 0.0083 0.0082 0.0080 0.0079 0.0084 0.0094 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.23 182 ENSG00000226761 TAS2R46 TAS2R46 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . 0.141 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0002 0.0004 0.0002 0.0004 0 6.739e-05 0 0 0 0.0003 6.983e-05 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . 0.14 . . rs200226376 rs200226376 1 1538 10 1/0 0,241,255 +rs200226376 12 11214870 A T - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution synonymous exon GRCh37 11214870 11214870 Chr12(GRCh37):g.11214870A>T 24 24 NM_176887.2:c.24T>A p.Ile8= p.Ile8Ile 1 612774 Mammalian taste receptor rs200226376 yes no Frequency 1 0.000000 0 0.000308 0.000129 0.000277 0.000211 0.000281 0.000427 0.000357 0.000243 0.000165 0.000427 80 3 9 2 5 12 42 6 1 259542 23214 32524 9484 17814 28096 117680 24672 6058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 3 9 2 5 12 42 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1127570|COSM1127570 Skin|Prostate 0.000812|0.000567 1232|1764 transversion T A T>A 0.000 -1.328 I Ile ATT 0.356 I Ile ATA 0.163 8 198 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.T24A:p.I8I TAS2R46:uc001qzp.1:exon1:c.T24A:p.I8I TAS2R46:NM_176887:exon1:c.T24A:p.I8I . . 0.15384616 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.2790 . . . . . . . . 9.456e-03 . . . 0.0020 0.0071 0.0081 0.0062 0.0092 0.0072 0.01 0.0093 0.0021 0.0077 0.0083 0.0082 0.0080 0.0079 0.0084 0.0094 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.23 182 ENSG00000226761 TAS2R46 TAS2R46 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . 0.141 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0002 0.0004 0.0002 0.0004 0 6.739e-05 0 0 0 0.0003 6.983e-05 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . 0.14 . . rs200226376 rs200226376 1 1538 10 1/0 0,241,255 +rs200393293 12 11285818 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11285818 11285818 Chr12(GRCh37):g.11285818T>C 38069 38069 NM_001291315.1:c.-134+38203A>G p.? p.? 1 1 168730 38203 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 rs200393293 no no 0 T 0.000000 0 0.000331 0.000146 0.000000 0.000000 0.002703 0.000000 0.000281 0.000000 0.001832 0.002703 7 1 0 0 2 0 3 0 1 21128 6866 466 270 740 0 10668 1572 546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 2 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 63 Genomes transition A G A>G 0.000 -0.763 216 PASS . . . . . . . . . . . . . . . . 0.20833333 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.4590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.35 0.37 182 ENSG00000256188 . PRH1-PRR4 ENST00000539585:c.*66A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0.0027 0 0.0003 0.0018 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs200393293 rs200393293 1 1538 10 1/0 0,255,255 +rs200393293 12 11285818 T C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution downstream GRCh37 11285818 11285818 Chr12(GRCh37):g.11285818T>C *66 *66 NM_001097643.1:c.*66A>G p.? p.? 1 613963 rs200393293 no no 0 T 0.000000 0 0.000331 0.000146 0.000000 0.000000 0.002703 0.000000 0.000281 0.000000 0.001832 0.002703 7 1 0 0 2 0 3 0 1 21128 6866 466 270 740 0 10668 1572 546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 2 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 63 Genomes transition A G A>G 0.000 -0.763 216 PASS . . . . . . . . . . . . . . . . 0.20833333 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.4590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.35 0.37 182 ENSG00000256188 . PRH1-PRR4 ENST00000539585:c.*66A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0.0027 0 0.0003 0.0018 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs200393293 rs200393293 1 1538 10 1/0 0,255,255 +rs201063531 12 11285824 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11285824 11285824 Chr12(GRCh37):g.11285824T>C 38063 38063 NM_001291315.1:c.-134+38197A>G p.? p.? 1 1 168730 38197 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 New Donor Site 11285825 5.87157 0.867395 76.9047 rs201063531 no no 0 T 0.000000 0 0.000284 0.000145 0.000000 0.000000 0.002732 0.000000 0.000188 0.000000 0.001767 0.002732 6 1 0 0 2 0 2 0 1 21120 6920 480 248 732 0 10634 1540 566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 2 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 63 Genomes transition A G A>G 0.000 -0.440 218 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.32 0.37 182 ENSG00000256188 . PRH1-PRR4 ENST00000539585:c.*60A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0.0027 0 0.0002 0.0018 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . 0.011 . . rs201063531 rs201063531 1 1538 10 1/0 0,255,255 +rs201063531 12 11285824 T C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution downstream GRCh37 11285824 11285824 Chr12(GRCh37):g.11285824T>C *60 *60 NM_001097643.1:c.*60A>G p.? p.? 1 613963 rs201063531 no no 0 T 0.000000 0 0.000284 0.000145 0.000000 0.000000 0.002732 0.000000 0.000188 0.000000 0.001767 0.002732 6 1 0 0 2 0 2 0 1 21120 6920 480 248 732 0 10634 1540 566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 2 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 63 Genomes transition A G A>G 0.000 -0.440 218 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.32 0.37 182 ENSG00000256188 . PRH1-PRR4 ENST00000539585:c.*60A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0.0027 0 0.0002 0.0018 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . 0.011 . . rs201063531 rs201063531 1 1538 10 1/0 0,255,255 +rs763370440 12 11286318 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286318 11286318 Chr12(GRCh37):g.11286318T>C 37569 37569 NM_001291315.1:c.-134+37703A>G p.? p.? 1 1 168730 37703 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 New Acceptor Site 11286317 2.47342 0.017173 73.9905 rs763370440 yes no Frequency 1 T 0.000000 0 0.000694 0.001275 0.000088 0.000099 0.000663 0.000000 0.000916 0.000780 0.001793 0.001275 185 28 3 1 12 0 111 19 11 266702 21956 34126 10118 18092 30778 121142 24356 6134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 185 28 3 1 12 0 111 19 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.732 194 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A526G:p.N176D TAS2R30:uc009zhs.1:exon1:c.A526G:p.N176D TAS2R30:NM_001097643:exon1:c.A526G:p.N176D . . 0.14606741 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.152 . . 89.0 . . . . . . . . . . -1.5420 -1.684 -1.542 c . . . . . 2.605e-04 . . . 9.862e-05 0.0001 0 0 0 0.0002 0 6.06e-05 0 9.438e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.026 @ . . . . . . ENSG00000256188 TAS2R30 TAS2R30 . . . 0.984 0.306 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.182 . . 0.288 . . . 0.315 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.393 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 5 0.088 . . . . . 0.016 . 0.075 . LowAF . . . . . . . . . . . . . . 1.141 . ENST00000539585 2.VI -5.19 . 0.460000 P59541 . . . . . 0.021 . . . 0 2.862e-05 0 0 0 0 6.353e-05 0 0 0.0042 0.0081 0.0054 0.0036 0.0142 0.0089 0.0095 0.0166 . . 0.056 . -1.604 -1.604000 . . 0.460000 . . 1.0E-194 0.000 0.063 . 0.016 0.002 . 0.001 . 0.110 -1.604 0.755 . . . . . 1 1538 10 1/0 0,236,255 +rs763370440 12 11286318 T C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286318 11286318 Chr12(GRCh37):g.11286318T>C 526 526 NM_001097643.1:c.526A>G p.Asn176Asp p.Asn176Asp 1 613963 Mammalian taste receptor rs763370440 yes no Frequency 1 T 0.000000 0 0.000694 0.001275 0.000088 0.000099 0.000663 0.000000 0.000916 0.000780 0.001793 0.001275 185 28 3 1 12 0 111 19 11 266702 21956 34126 10118 18092 30778 121142 24356 6134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 185 28 3 1 12 0 111 19 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.732 N Asn AAT 0.464 D Asp GAT 0.461 176 2 1 2 I.33 I.38 11.VI 13 56 54 23 194 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A526G:p.N176D TAS2R30:uc009zhs.1:exon1:c.A526G:p.N176D TAS2R30:NM_001097643:exon1:c.A526G:p.N176D . . 0.14606741 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.152 . . 89.0 . . . . . . . . . . -1.5420 -1.684 -1.542 c . . . . . 2.605e-04 . . . 9.862e-05 0.0001 0 0 0 0.0002 0 6.06e-05 0 9.438e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.026 @ . . . . . . ENSG00000256188 TAS2R30 TAS2R30 . . . 0.984 0.306 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.182 . . 0.288 . . . 0.315 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.393 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 5 0.088 . . . . . 0.016 . 0.075 . LowAF . . . . . . . . . . . . . . 1.141 . ENST00000539585 2.VI -5.19 . 0.460000 P59541 . . . . . 0.021 . . . 0 2.862e-05 0 0 0 0 6.353e-05 0 0 0.0042 0.0081 0.0054 0.0036 0.0142 0.0089 0.0095 0.0166 . . 0.056 . -1.604 -1.604000 . . 0.460000 . . 1.0E-194 0.000 0.063 . 0.016 0.002 . 0.001 . 0.110 -1.604 0.755 . . . . . 1 1538 10 1/0 0,236,255 +rs200095034 12 11286323 T A - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286323 11286323 Chr12(GRCh37):g.11286323T>A 37564 37564 NM_001291315.1:c.-134+37698A>T p.? p.? 1 1 168730 37698 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 Cryptic Donor Strongly Activated 11286329 0.353095 0.003479 58.2682 3.61069 0.046833 63.5971 rs200095034 yes no Frequency/1000G 2 T 0.000000 0 0.000418 0.000675 0.000029 0.000099 0.000385 0.000000 0.000583 0.000364 0.001294 0.000675 112 15 1 1 7 0 71 9 8 268220 22222 34200 10126 18192 30780 121772 24746 6182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 15 1 1 7 0 71 9 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.198 195 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A521T:p.H174L TAS2R30:uc009zhs.1:exon1:c.A521T:p.H174L TAS2R30:NM_001097643:exon1:c.A521T:p.H174L . . 0.14814815 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.026 . . 81.0 . . . . . . . . . . -1.9167 -1.833 -1.917 c . . . . . 2.526e-04 . . . 9.868e-05 9.95e-05 0 0 0 0.0002 0 6.06e-05 0 9.438e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.093 0.0002 . . . 0.27 0.17 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.311 0.193 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.121 0.005 . . 37 . 0.002 . . 0.436 . . . 0.000 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.071 . 0.112 . LowAF . . . . . . . . . . . . . . III.84 . ENST00000539585 2.VI -1.1 . 1.000000 P59541 . . . . . 0.003 . . . 0 3.269e-05 0 0 0 0 7.255e-05 0 0 0.0022 0.0044 0.0016 0.0036 0.0074 0.0036 0.0055 0.0112 . . 0.056 . -0.395 -0.395000 . . 1.000000 . . 9.999999999999999E-196 0.003 0.159 . 0.016 0.001 . 0.386 . 0.042 -0.395 -0.811 . . . . . 1 1538 10 1/0 0,240,255 +rs200095034 12 11286323 T A - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286323 11286323 Chr12(GRCh37):g.11286323T>A 521 521 NM_001097643.1:c.521A>T p.His174Leu p.His174Leu 1 613963 Mammalian taste receptor rs200095034 yes no Frequency/1000G 2 T 0.000000 0 0.000418 0.000675 0.000029 0.000099 0.000385 0.000000 0.000583 0.000364 0.001294 0.000675 112 15 1 1 7 0 71 9 8 268220 22222 34200 10126 18192 30780 121772 24746 6182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 15 1 1 7 0 71 9 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.198 H His CAT 0.413 L Leu CTT 0.129 174 -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 195 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A521T:p.H174L TAS2R30:uc009zhs.1:exon1:c.A521T:p.H174L TAS2R30:NM_001097643:exon1:c.A521T:p.H174L . . 0.14814815 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.026 . . 81.0 . . . . . . . . . . -1.9167 -1.833 -1.917 c . . . . . 2.526e-04 . . . 9.868e-05 9.95e-05 0 0 0 0.0002 0 6.06e-05 0 9.438e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.093 0.0002 . . . 0.27 0.17 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.311 0.193 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.121 0.005 . . 37 . 0.002 . . 0.436 . . . 0.000 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.071 . 0.112 . LowAF . . . . . . . . . . . . . . III.84 . ENST00000539585 2.VI -1.1 . 1.000000 P59541 . . . . . 0.003 . . . 0 3.269e-05 0 0 0 0 7.255e-05 0 0 0.0022 0.0044 0.0016 0.0036 0.0074 0.0036 0.0055 0.0112 . . 0.056 . -0.395 -0.395000 . . 1.000000 . . 9.999999999999999E-196 0.003 0.159 . 0.016 0.001 . 0.386 . 0.042 -0.395 -0.811 . . . . . 1 1538 10 1/0 0,240,255 +rs113026132 12 11286702 G C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286702 11286702 Chr12(GRCh37):g.11286702G>C 37185 37185 NM_001291315.1:c.-134+37319C>G p.? p.? 1 1 168730 37319 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 rs113026132 yes no Frequency 1 G 0.000000 0 0.000195 0.000348 0.000292 0.000000 0.000327 0.000000 0.000145 0.000278 0.000635 0.000348 53 8 10 0 6 0 18 7 4 272364 23008 34208 10136 18340 30776 124410 25182 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 8 10 0 6 0 18 7 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.016 0.609 203 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.C142G:p.L48V TAS2R30:uc009zhs.1:exon1:c.C142G:p.L48V TAS2R30:NM_001097643:exon1:c.C142G:p.L48V . . 0.16666667 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.664 . . 84.0 . . . . . . . . . . -0.0517 -0.290 -0.052 c . . . . . 6.335e-05 . . . 0 4.444e-05 0.0002 0 0 4.754e-05 0 0 0 4.74e-05 0.0002 0.0003 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.015 . . exonic exonic exonic . . 0.238 @ . . . 0.29 0.15 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.544 0.213 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.085 . . 0.088 . . . 0.867 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.449 . . 0.548 . . . . . . 5 0.413 . . . . . 0.155 . 0.398 . HET . . . . . . . . . . . . . . V.77 . ENST00000539585 II.69 I.78 . 0.050000 P59541 . . . . . 0.289 . . . 0 2.033e-05 8.94e-05 0 0 0 1.795e-05 0 0 0.0010 0.0018 0.0107 0 0.0055 0.0024 0.0012 0.0048 . . 0.283 . 0.461 0.461000 . . 0.050000 . . 1.0E-203 0.992 0.373 . 0.180 0.643 . 0.147 . 0.296 0.461 0.697 . . . rs113026132 rs113026132 1 1538 10 1/0 0,239,255 +rs113026132 12 11286702 G C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286702 11286702 Chr12(GRCh37):g.11286702G>C 142 142 NM_001097643.1:c.142C>G p.Leu48Val p.Leu48Val 1 613963 Mammalian taste receptor rs113026132 yes no Frequency 1 G 0.000000 0 0.000195 0.000348 0.000292 0.000000 0.000327 0.000000 0.000145 0.000278 0.000635 0.000348 53 8 10 0 6 0 18 7 4 272364 23008 34208 10136 18340 30776 124410 25182 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 8 10 0 6 0 18 7 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.016 0.609 L Leu CTC 0.197 V Val GTC 0.240 48 1 1 1 0 0 4.IX 5.IX 111 84 32 203 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.C142G:p.L48V TAS2R30:uc009zhs.1:exon1:c.C142G:p.L48V TAS2R30:NM_001097643:exon1:c.C142G:p.L48V . . 0.16666667 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.664 . . 84.0 . . . . . . . . . . -0.0517 -0.290 -0.052 c . . . . . 6.335e-05 . . . 0 4.444e-05 0.0002 0 0 4.754e-05 0 0 0 4.74e-05 0.0002 0.0003 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.015 . . exonic exonic exonic . . 0.238 @ . . . 0.29 0.15 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.544 0.213 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.085 . . 0.088 . . . 0.867 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.449 . . 0.548 . . . . . . 5 0.413 . . . . . 0.155 . 0.398 . HET . . . . . . . . . . . . . . V.77 . ENST00000539585 II.69 I.78 . 0.050000 P59541 . . . . . 0.289 . . . 0 2.033e-05 8.94e-05 0 0 0 1.795e-05 0 0 0.0010 0.0018 0.0107 0 0.0055 0.0024 0.0012 0.0048 . . 0.283 . 0.461 0.461000 . . 0.050000 . . 1.0E-203 0.992 0.373 . 0.180 0.643 . 0.147 . 0.296 0.461 0.697 . . . rs113026132 rs113026132 1 1538 10 1/0 0,239,255 +rs113799622 12 11286713 A G - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286713 11286713 Chr12(GRCh37):g.11286713A>G 37174 37174 NM_001291315.1:c.-134+37308T>C p.? p.? 1 1 168730 37308 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 rs113799622 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000265 0.000349 0.000263 0.000000 0.000437 0.000000 0.000274 0.000398 0.000477 0.000437 72 8 9 0 8 0 34 10 3 272102 22942 34210 10138 18310 30774 124300 25136 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 8 9 0 8 0 34 10 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.328 211 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000256188:ENST00000539585:exon1:c.T131C:p.V44A TAS2R30:uc009zhs.1:exon1:c.T131C:p.V44A TAS2R30:NM_001097643:exon1:c.T131C:p.V44A . . 0.1882353 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.059 . . 85.0 . . . . . . . . . . -1.9658 -1.985 -1.966 c . . . . . 2.376e-05 . . . 0.0001 2.221e-05 0 0 0 2.376e-05 0 0 0.0001 1.896e-05 0 0 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.374 . . exonic exonic exonic . . 0.028 0.0002 . . . 0.18 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.972 0.293 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.047 0.002 . . 37 . 0.077 . . 0.277 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 5 0.010 . . . . . 0.135 . 0.014 . HET . . . . . . . . . . . . . . IV.96 . ENST00000539585 II.48 -4.95 . 1.000000 P59541 . . . . . 0.005 . . . 6.543e-05 8.133e-06 0 0 0 0 8.973e-06 0 0 0.0009 0.0027 0.0136 0 0.0075 0.0035 0.0026 0.0037 . . 0.283 . -1.177 -1.177000 . . 1.000000 . . 1.0E-211 0.000 0.063 . 0.016 0.015 . 0.014 . 0.039 -1.177 -0.988 . . . rs113799622 rs113799622 1 1538 10 1/0 0,241,255 +rs113799622 12 11286713 A G - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286713 11286713 Chr12(GRCh37):g.11286713A>G 131 131 NM_001097643.1:c.131T>C p.Val44Ala p.Val44Ala 1 613963 Mammalian taste receptor rs113799622 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000265 0.000349 0.000263 0.000000 0.000437 0.000000 0.000274 0.000398 0.000477 0.000437 72 8 9 0 8 0 34 10 3 272102 22942 34210 10138 18310 30774 124300 25136 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 8 9 0 8 0 34 10 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.328 V Val GTT 0.178 A Ala GCT 0.263 44 0 0 -1 0 0 5.IX 8.I 84 31 64 211 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000256188:ENST00000539585:exon1:c.T131C:p.V44A TAS2R30:uc009zhs.1:exon1:c.T131C:p.V44A TAS2R30:NM_001097643:exon1:c.T131C:p.V44A . . 0.1882353 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.059 . . 85.0 . . . . . . . . . . -1.9658 -1.985 -1.966 c . . . . . 2.376e-05 . . . 0.0001 2.221e-05 0 0 0 2.376e-05 0 0 0.0001 1.896e-05 0 0 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.374 . . exonic exonic exonic . . 0.028 0.0002 . . . 0.18 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.972 0.293 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.047 0.002 . . 37 . 0.077 . . 0.277 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 5 0.010 . . . . . 0.135 . 0.014 . HET . . . . . . . . . . . . . . IV.96 . ENST00000539585 II.48 -4.95 . 1.000000 P59541 . . . . . 0.005 . . . 6.543e-05 8.133e-06 0 0 0 0 8.973e-06 0 0 0.0009 0.0027 0.0136 0 0.0075 0.0035 0.0026 0.0037 . . 0.283 . -1.177 -1.177000 . . 1.000000 . . 1.0E-211 0.000 0.063 . 0.016 0.015 . 0.014 . 0.039 -1.177 -0.988 . . . rs113799622 rs113799622 1 1538 10 1/0 0,241,255 +rs113282241 12 11286807 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286807 11286807 Chr12(GRCh37):g.11286807T>C 37080 37080 NM_001291315.1:c.-134+37214A>G p.? p.? 1 1 168730 37214 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 New Acceptor Site 11286806 7.81325 0.702177 85.3393 rs113282241 yes no Frequency 1 T 0.000000 0 0.000756 0.001722 0.000149 0.000000 0.001494 0.000000 0.000553 0.002306 0.001313 0.002306 201 38 5 0 27 0 67 56 8 265816 22072 33656 10006 18074 30446 121188 24280 6094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 201 38 5 0 27 0 67 56 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.167 246 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A37G:p.I13V TAS2R30:uc009zhs.1:exon1:c.A37G:p.I13V TAS2R30:NM_001097643:exon1:c.A37G:p.I13V . . 0.29545453 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.040 . . 88.0 . . . . . . . . . . -2.1845 -2.238 -2.184 c . . . . . 2.303e-04 . . . 0.0002 0.0001 0.0002 0 0.0003 0.0002 0 6.241e-05 0.0002 0.0001 0.0002 0.0003 0.0002 7.72e-05 0 6.277e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.017 @ . . . 0.19 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.790 0.240 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.116 . . 0.342 . . . 0.051 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 5 0.010 . . . . . 0.079 . 0.007 . HET . . . . . . . . . . . . . . III.14 . ENST00000539585 III.32 -6.48 . 0.990000 P59541 . . . . . 0.004 . . . 0 1.238e-05 0 0 0 4.536e-05 1.829e-05 0 0 0.0054 0.0084 0.0097 0 0.0288 0.0246 0.0055 0.0111 . . 0.283 . -0.746 -0.746000 . . 0.990000 . . 1.0E-246 0.000 0.063 . 0.016 0.002 . 0.004 . 0.001 -0.746 -0.672 . . . rs113282241 rs113282241 1 1538 10 1/0 0,250,255 +rs113282241 12 11286807 T C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286807 11286807 Chr12(GRCh37):g.11286807T>C 37 37 NM_001097643.1:c.37A>G p.Ile13Val p.Ile13Val 1 613963 Mammalian taste receptor rs113282241 yes no Frequency 1 T 0.000000 0 0.000756 0.001722 0.000149 0.000000 0.001494 0.000000 0.000553 0.002306 0.001313 0.002306 201 38 5 0 27 0 67 56 8 265816 22072 33656 10006 18074 30446 121188 24280 6094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 201 38 5 0 27 0 67 56 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.167 I Ile ATA 0.163 V Val GTA 0.114 13 3 3 4 0 0 5.II 5.IX 111 84 29 246 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A37G:p.I13V TAS2R30:uc009zhs.1:exon1:c.A37G:p.I13V TAS2R30:NM_001097643:exon1:c.A37G:p.I13V . . 0.29545453 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.040 . . 88.0 . . . . . . . . . . -2.1845 -2.238 -2.184 c . . . . . 2.303e-04 . . . 0.0002 0.0001 0.0002 0 0.0003 0.0002 0 6.241e-05 0.0002 0.0001 0.0002 0.0003 0.0002 7.72e-05 0 6.277e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.017 @ . . . 0.19 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.790 0.240 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.116 . . 0.342 . . . 0.051 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 5 0.010 . . . . . 0.079 . 0.007 . HET . . . . . . . . . . . . . . III.14 . ENST00000539585 III.32 -6.48 . 0.990000 P59541 . . . . . 0.004 . . . 0 1.238e-05 0 0 0 4.536e-05 1.829e-05 0 0 0.0054 0.0084 0.0097 0 0.0288 0.0246 0.0055 0.0111 . . 0.283 . -0.746 -0.746000 . . 0.990000 . . 1.0E-246 0.000 0.063 . 0.016 0.002 . 0.004 . 0.001 -0.746 -0.672 . . . rs113282241 rs113282241 1 1538 10 1/0 0,250,255 +rs111958076 12 11286820 A T - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286820 11286820 Chr12(GRCh37):g.11286820A>T 37067 37067 NM_001291315.1:c.-134+37201T>A p.? p.? 1 1 168730 37201 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 rs111958076 yes no Frequency 1 A 0.000000 0 0.000570 0.001321 0.000149 0.000000 0.001156 0.000000 0.000396 0.001743 0.000812 0.001743 152 30 5 0 21 0 48 43 5 266648 22702 33508 9926 18162 30182 121340 24668 6160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 152 30 5 0 21 0 48 43 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.528 243 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.T24A:p.I8I TAS2R30:uc009zhs.1:exon1:c.T24A:p.I8I TAS2R30:NM_001097643:exon1:c.T24A:p.I8I . . 0.2840909 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.0588 . . . . . . . . 5.008e-04 . . . 0 0.0002 0.0003 0 0.0003 0.0004 0 6.53e-05 0 0.0002 0.0003 0.0004 0.0002 0.0003 0 6.569e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.329e-05 0 0 5.857e-05 4.554e-05 5.542e-05 0 0 0.0039 0.0055 0.0083 0 0.0184 0.0155 0.0032 0.0061 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs111958076 rs111958076 1 1538 10 1/0 0,249,255 +rs111958076 12 11286820 A T - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution synonymous exon GRCh37 11286820 11286820 Chr12(GRCh37):g.11286820A>T 24 24 NM_001097643.1:c.24T>A p.Ile8= p.Ile8Ile 1 613963 Mammalian taste receptor rs111958076 yes no Frequency 1 A 0.000000 0 0.000570 0.001321 0.000149 0.000000 0.001156 0.000000 0.000396 0.001743 0.000812 0.001743 152 30 5 0 21 0 48 43 5 266648 22702 33508 9926 18162 30182 121340 24668 6160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 152 30 5 0 21 0 48 43 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.528 I Ile ATT 0.356 I Ile ATA 0.163 8 243 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.T24A:p.I8I TAS2R30:uc009zhs.1:exon1:c.T24A:p.I8I TAS2R30:NM_001097643:exon1:c.T24A:p.I8I . . 0.2840909 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.0588 . . . . . . . . 5.008e-04 . . . 0 0.0002 0.0003 0 0.0003 0.0004 0 6.53e-05 0 0.0002 0.0003 0.0004 0.0002 0.0003 0 6.569e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.329e-05 0 0 5.857e-05 4.554e-05 5.542e-05 0 0 0.0039 0.0055 0.0083 0 0.0184 0.0155 0.0032 0.0061 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs111958076 rs111958076 1 1538 10 1/0 0,249,255 +rs12811811 (chr12:11420501 G/A) 12 11420501 G A Not on a known gene +rs12368171 (chr12:11420517 C/T) 12 11420517 C T Not on a known gene +rs11054206 (chr12:11420778 C/T) 12 11420778 C T Not on a known gene +rs12369219 12 11461520 G C - PRB4 9340 Proline-rich protein BstNI subfamily 4 NM_002723.5 -1 918 744 NP_002714.2 substitution missense exon GRCh37 11461520 11461520 Chr12(GRCh37):g.11461520G>C 397 397 NM_002723.5:c.397C>G p.Arg133Gly p.Arg133Gly 3 180990 297 3' 82.3287 9.59953 0.91388 7.42226 82.3287 9.59953 0.91388 7.42226 0 rs12369219 yes no Frequency/1000G 2 C 0.000000 0 0.026557 0.031000 0.066500 0.007900 0.006000 0.018700 0.000051 0.000000 0.000042 0.000000 0.000000 0.000040 0.000019 0.000306 0.000000 0.000306 11 0 1 0 0 1 2 7 0 215116 14684 24032 8738 11862 24884 103312 22900 4704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 0 1 2 7 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4203499 Large intestine 0.000448 2231 transversion C G C>G 0.000 -1.732 R Arg CGT 0.082 G Gly GGT 0.162 133 5 1 -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 242.52 0.00 Tolerated 1 IV.32 217 PASS . . . . . 0.031 0.027 0.019 0.0079 0.006 0.067 . . PRB4:NM_002723:exon3:c.C397G:p.R133G . . 0.20454545 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.126 . @ . . . . . 1 0.016 . . 88.0 . . . . . . . . . . -1.9671 -1.978 -1.967 c . . . . . 7.963e-06 . . . 0 1.127e-05 0 0 0 2.438e-05 0 0 0 9.597e-06 0 0 0 1.878e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.037 . . exonic exonic exonic . . 0.074 0.0266 . . . 0.3 0.29 182 ENSG00000230657 PRB4 PRB4 . . . 0.000 0.035 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.008 . . 0.396 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.174 . . . . . 0.101 . 0.179 . HET 0.69 rs12369219 . . . . . . . . . . . . IV.33 . . 0.904 -1.81 . 0.660000 E9PAL0 . . . . . 0.007 . . . 0 1.003e-05 4.23e-05 0 0 0 0 0 4.019e-05 0 0.0006 0 0 0 0.0034 0.0003 0 . . 0.246 . -1.963 -1.963000 . . 0.660000 . . 1.0E-217 0.000 0.063 . 0.043 0.012 . 0.024 . 0.039 -1.963 -1.800 . rs12369219 rs12369219 rs12369219 rs12369219 1 1538 10 1/0 0,240,255 +rs12369220 12 11461521 G T - PRB4 9340 Proline-rich protein BstNI subfamily 4 NM_002723.5 -1 918 744 NP_002714.2 substitution missense exon GRCh37 11461521 11461521 Chr12(GRCh37):g.11461521G>T 396 396 NM_002723.5:c.396C>A p.His132Gln p.His132Gln 3 180990 296 3' 82.3287 9.59953 0.91388 7.42226 82.3287 9.59953 0.91388 7.42226 0 rs12369220 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.002000 0.000000 0.001000 0.000000 0.000220 0.000413 0.000492 0.000118 0.000290 0.000171 0.000113 0.000321 0.000467 0.000492 44 5 11 1 3 4 11 7 2 200050 12118 22338 8470 10342 23378 97334 21784 4286 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 5 11 1 3 4 11 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM225897 Skin 0.000812 1232 transversion C A C>A 0.000 -2.135 H His CAC 0.587 Q Gln CAA 0.256 132 5 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 227.83 0.00 Tolerated 1 IV.32 207 PASS . . . . . . 0.0006 . . 0.001 0.002 . . PRB4:NM_002723:exon3:c.C396A:p.H132Q . . 0.17857143 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.007 . . 84.0 . . . . . . . . . . -2.3337 -2.329 -2.334 c . . . . . . . . . 0 1.126e-05 0 0 0 2.435e-05 0 0 0 9.591e-06 0 0 0 1.876e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.074 0.0006 . . . 0.23 0.2 182 ENSG00000230657 PRB4 PRB4 . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.032 0.002 . . 37 . 0.007 . . 0.364 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.000 . 0.068 . HET 1 rs12369220 . . . . . . . . . . . . 0.0529 . . 0.904 -1.81 . 0.610000 E9PAL0 . . . . . 0.003 . . . 0.0003 0.0002 0.0005 0.0001 0.0003 0 7.549e-05 0.0003 0.0002 0.0011 0.0017 0.0043 0 0 0.0055 0.0009 0.0030 . . 0.246 . -2.393 -2.393000 . . 0.610000 . . 1.0E-207 0.000 0.063 . 0.043 0.015 . 0.013 . 0.044 -2.393 -1.796 . rs12369220 rs12369220 rs12369220 rs12369220 1 1538 10 1/0 0,240,255 +rs11054243 12 11461549 G C - PRB4 9340 Proline-rich protein BstNI subfamily 4 NM_002723.5 -1 918 744 NP_002714.2 substitution missense exon GRCh37 11461549 11461549 Chr12(GRCh37):g.11461549G>C 368 368 NM_002723.5:c.368C>G p.Pro123Arg p.Pro123Arg 3 180990 268 3' 82.3287 9.59953 0.91388 7.42226 82.3287 9.59953 0.91388 7.42226 0 rs11054243 yes no Frequency/1000G 2 G 0.000000 0 0.000106 0.000338 0.000179 0.000148 0.000000 0.000059 0.000064 0.000096 0.000312 0.000338 14 3 3 1 0 1 4 1 1 132642 8876 16758 6760 7232 16810 62558 10440 3208 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 3 3 1 0 1 4 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396 Upper aerodigestive tract|Thyroid|Prostate|Pancreas|Oesophagus|Liver|Haematopoietic and lymphoid tissue|Central nervous system|Breast 0.013930|0.006693|0.001134|0.001138|0.000712|0.000422|0.000850|0.002079|0.000815 1364|747|1764|1758|1405|2371|3530|2405|2453 transversion C G C>G 0.283 0.205 P Pro CCA 0.274 R Arg CGA 0.110 123 5 3 Olive baboon -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 244.67 0.00 Tolerated 1 IV.32 255 PASS 0.05 0.07 0.1 0.06 0.06 . . . . . . . . PRB4:NM_002723:exon3:c.C368G:p.P123R . . 0.42718446 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.000 . . 103.0 . . . . . . . . . . -1.2322 -1.343 -1.232 c . . . . . 3.645e-05 . . . 0.0003 8.128e-05 0 0 0 0.0001 0 0 0.0004 3.743e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.080 . . exonic exonic exonic . . 0.126 0.0046 . . . 0.23 0.18 182 ENSG00000230657 PRB4 PRB4 . . . 0.000 0.012 . 10161 0.156381 64976 9330 0.155536 59986 Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.003 . . 0.386 . . . . 0.198 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.435 . . 0 0 0 0 0 0 . 0.112 . . 0.063 . . . . . . 1 0.249 . . . . . 0.118 . 0.277 . HET 0.18 rs11054243 0.011 0.014 . . . . . 0.06547619047619048 0.054878048780487805 0.09944751381215469 0.05944055944055944 0.06068601583113457 IV.53 0.088283 . 0.796 -0.165 . 0.340000 E9PAL0 . . . . . 0.069 . . . 0.0006 7.601e-05 0.0001 0 0 0 3.598e-05 0.0004 5.949e-05 0 0.0004 0.0023 0.0082 0 0.0005 0.0003 0 . . 0.246 . -0.098 -0.098000 . . 0.340000 . . 1.0E-255 0.015 0.189 . 0.095 0.090 . 0.037 . 0.006 -0.098 0.142 0.1 rs11054243 rs11054243 rs11054243 rs11054243 1 1538 10 1/0 0,250,255 +rs555881001 12 11506471 T C - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution missense exon GRCh37 11506471 11506471 Chr12(GRCh37):g.11506471T>C 566 566 NM_005039.3:c.566A>G p.Lys189Arg p.Lys189Arg 3 180989 -464 5' 84.4974 IX.89 0.95435 3.54943 84.4974 IX.89 0.95435 3.54943 0 rs555881001 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.001500 0.013300 0.000000 0.002000 0.001400 0.002723 0.002615 0.003090 0.001784 0.001535 0.004099 0.002556 0.002040 0.006206 0.004099 315 30 47 6 18 57 125 18 14 115670 11474 15208 3364 11728 13906 48912 8822 2256 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 315 30 47 6 18 57 125 18 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.409 K Lys AAA 0.425 R Arg AGA 0.205 189 3 2 3 0.33 0.65 11.III 10.V 119 124 26 221 PASS . . . . . 0.0015 0.0036 0.0014 . 0.002 0.013 . PRB1:uc001qzw.1:exon4:c.A563G:p.K188R UNKNOWN . . 0.21818182 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.060 . @ . . . . . 1 0.021 . . 55.0 . . . . . . . . . . -0.5540 -0.258 -0.554 n . . . . . . . . . 0.0245 0.0330 0.0345 0.0118 0.0321 0.0388 0.0271 0.0363 0.0216 0.0314 0.0341 0.0096 0.0340 0.0359 0.0409 0.0364 . nonsynonymous_SNV unknown . . . intronic exonic exonic . . 0.065 0.0036 . . . . . . ENSG00000251655 PRB1 PRB1 . . . 0.001 0.075 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.079 . 0.031 . HET . rs555881001 . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 . . . 0.0016 0.0025 0.0029 0.0018 0.0015 0.0014 0.0024 0.0056 0.0041 0.0101 0.0095 0.0263 0 0.0026 0.0191 0.0064 0.0196 . . 0.004 . . . . . . . . 1.0E-221 0.000 0.063 . 0.016 0.004 . 0.075 . 0.027 . 0.062 . . . . . 1 1538 10 1/0 0,255,255 +rs755622101 12 11506486 G T - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution missense exon GRCh37 11506486 11506486 Chr12(GRCh37):g.11506486G>T 551 551 NM_005039.3:c.551C>A p.Pro184Gln p.Pro184Gln 3 180989 451 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs755622101 yes no Frequency 1 G 0.000000 0 0.000933 0.000504 0.002077 0.000975 0.000162 0.000798 0.000802 0.001042 0.001978 0.002077 119 6 36 4 2 13 42 11 5 127494 11902 17330 4104 12378 16298 52394 10560 2528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 6 36 4 2 13 42 11 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.862 0.367 P Pro CCA 0.274 Q Gln CAA 0.256 184 -1 -1 -3 0.39 0.89 8 10.V 32.5 85 76 214 PASS . . . . . . . . . . . . PRB1:uc001qzw.1:exon4:c.C548A:p.P183Q UNKNOWN . . 0.19767442 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.096 . @ . . . . . 1 0.042 . . 86.0 . . . . . . . . . . -0.3246 -0.224 -0.325 n . . . . . 2.108e-03 . . . 0.0022 0.0025 0.0010 0.0013 0.0005 0.0034 0.0029 0.0032 0.0010 0.0012 0.0010 0.0006 0.0012 0.0009 0 0.0031 . nonsynonymous_SNV unknown . . . intronic exonic exonic . . 0.130 @ . . . . . . ENSG00000251655 PRB1 PRB1 . . . 0.000 0.048 . 3598 0.0553743 64976 3590 0.0598473 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.027 . 0.103 . HET . rs755622101 . . . . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . 0.0002 0.0008 0.0019 0.0007 8.252e-05 0.0009 0.0008 0.0016 0.0008 0.0027 0.0044 0.0286 0.025 0.0038 0.0071 0.0018 0.0111 . . 0.004 . . . . . . . . 1.0E-214 0.000 0.063 . 0.016 0.024 . 0.009 . 0.002 . -1.574 . . . . . 1 1538 10 1/0 0,241,255 +rs113485215 12 11506533 T C - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution synonymous exon GRCh37 11506533 11506533 Chr12(GRCh37):g.11506533T>C 504 504 NM_005039.3:c.504A>G p.Gln168= p.Gln168Gln 3 180989 404 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs113485215 yes no Frequency 1 0.000000 0 0.000337 0.000661 0.000463 0.000000 0.000081 0.000274 0.000337 0.000378 0.000000 0.000661 38 8 7 0 1 4 15 3 0 112644 12106 15110 3864 12320 14600 44492 7928 2224 0.000036 0.000165 0.000000 0.000000 0.000000 0.000137 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 34 6 7 0 1 2 15 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.005 Q Gln CAA 0.256 Q Gln CAG 0.744 168 241 PASS . . . . . . . . . . . . PRB1:uc001qzw.1:exon4:c.A501G:p.Q167Q UNKNOWN . . 0.2777778 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.6665 . . . . . . . . 3.410e-04 . . . 0.0003 0.0005 0.0001 0 0 0.0005 0 0.0012 0.0003 0.0004 0.0002 0 0 0.0003 0 0.0011 . synonymous_SNV unknown . . . intronic exonic exonic . . . @ . . . 0.26 0.24 182 ENSG00000251655 PRB1 PRB1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs113485215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0.0003 0 8.508e-05 0 0.0002 0 0.0003 0.0029 0.0042 0.0224 0 0 0.0091 0.0053 0 . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . rs113485215 rs113485215 1 1538 10 1/0 0,255,255 +rs199764037 12 11506582 C T - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution missense exon GRCh37 11506582 11506582 Chr12(GRCh37):g.11506582C>T 455 455 NM_005039.3:c.455G>A p.Arg152Gln p.Arg152Gln 3 180989 355 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs199764037 yes no Frequency/1000G 2 C 0.000000 0 0.048722 0.040100 0.062400 0.028800 0.052700 0.069200 0.000039 0.000000 0.000000 0.000000 0.000241 0.000000 0.000043 0.000000 0.000000 0.000241 6 0 0 0 3 0 3 0 0 152950 11496 19610 5174 12454 19712 69408 12092 3004 0.333333 0.000000 0.000000 0.000000 0.333333 0.000000 0.333333 0.000000 0.000000 2 0 0 0 1 0 1 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 154 Exomes transition G A G>A 0.000 -0.360 R Arg CGA 0.110 Q Gln CAA 0.256 152 1 1 1 0.65 0.89 10.V 10.V 124 85 43 215 PASS . . . . . 0.04 0.049 0.069 0.029 0.053 0.062 . . UNKNOWN . . 0.1981982 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.091 . @ . . . . . 1 0.019 . . 111.0 . . . . . . . . . . -0.3145 -0.222 -0.315 n . . . . . 1.858e-05 . . . 0 3.008e-05 0 0.0004 0 0 0 0 0 2.476e-05 0 0.0003 0 0 0 0 . . unknown . . . intronic splicing exonic . . 0.087 0.0487 . . . 0.29 0.24 182 ENSG00000251655 PRB1 PRB1 . . . 0.000 0.052 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.182 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.333 . . . HET . rs199764037 . . . . . . . . . . . . . . . . . . . . . . . . . 0.032 . . . 0 3.923e-05 0 0 0.0002 0 4.322e-05 0 0 . . . . . . . . . . 0.004 . . . . . . . . 1.0E-215 0.001 0.137 . 0.043 0.013 . 0.207 . 0.051 . 0.057 . . . rs199764037 rs199764037 1 1538 10 1/0 0,230,255 +rs112485268 12 11506591 C T - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution missense exon GRCh37 11506591 11506591 Chr12(GRCh37):g.11506591C>T 446 446 NM_005039.3:c.446G>A p.Arg149Gln p.Arg149Gln 3 180989 346 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs112485268 yes no Frequency/1000G 2 C 0.000000 0 0.000891 0.000211 0.001312 0.000000 0.000154 0.002290 0.001025 0.000528 0.000000 0.002290 49 2 9 0 1 16 19 2 0 54988 9492 6862 1802 6512 6986 18542 3790 1002 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000108 0.000000 0.000000 1 0 0 0 0 0 1 0 0 47 2 9 0 1 16 17 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.167 R Arg CGA 0.110 Q Gln CAA 0.256 149 1 1 1 0.65 0.89 10.V 10.V 124 85 43 212 PASS 0.24 0.37 0.43 0.34 0.46 . . . . . . . PRB1:uc001qzw.1:exon3:c.G446A:p.R149Q UNKNOWN . . 0.19130434 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.077 . @ . . . . . 1 0.033 . . 115.0 . . . . . . . . . . -0.4914 -0.249 -0.491 n . . . . . 7.981e-03 . . . 0.0067 0.0131 0.0036 0.0051 0.0185 0.0141 0.0204 0.0286 0.0072 0.0112 0.0037 0.0023 0.0123 0.0109 0.0206 0.0286 . nonsynonymous_SNV unknown . . . intronic exonic exonic . . 0.071 @ . . . 0.34 0.32 182 ENSG00000251655 PRB1 PRB1 . . . 0.000 0.065 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.001 . 0.061 . HET . rs112485268 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0.0003 0.0008 0.0012 0 0.0002 0.0003 0.0008 0 0.0023 0 0.0018 0.0086 0 0 0.0037 0.0046 0 . . 0.004 . . . . . . . . 1.0E-212 0.000 0.063 . 0.016 0.049 . 0.023 . 0.052 . 0.057 0.46 . . rs112485268 rs112485268 1 1538 10 1/0 0,228,255 +rs372620668 12 11506647 T C - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution synonymous exon GRCh37 11506647 11506647 Chr12(GRCh37):g.11506647T>C 390 390 NM_005039.3:c.390A>G p.Gln130= p.Gln130Gln 3 180989 290 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs372620668 yes no Frequency 1 T 0.000000 0 0.000295 0.000580 0.000343 0.000000 0.000151 0.000000 0.000150 0.001088 0.001036 0.001088 54 9 8 0 2 0 12 19 4 182912 15522 23344 6644 13264 22686 80124 17468 3860 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000114 0.000000 1 0 0 0 0 0 0 1 0 52 9 8 0 2 0 12 17 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.079 -0.037 Q Gln CAA 0.256 Q Gln CAG 0.744 130 195 PASS . . . . . . . . . . . . PRB1:uc001qzw.1:exon3:c.A390G:p.Q130Q UNKNOWN . . 0.14619882 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 171.0 . . . . . . . . . . -0.4772 . . . . . . . . 2.052e-03 . . . 0.0011 0.0016 0.0010 0.0008 0.0003 0.0026 0.0017 0.0008 0.0011 0.0019 0.0009 0.0017 0.0011 0.0028 0 0.0008 . synonymous_SNV unknown . . . intronic exonic exonic . . . @ . . . . . . ENSG00000251655 PRB1 PRB1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs372620668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.41e-05 5.194e-05 0.0001 0 0.0002 0 3.939e-05 0 0 0.0022 0.0047 0.0185 0 0 0.0269 0.0023 0.0156 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs372620668 rs372620668 1 1538 10 1/0 0,207,255 +rs201144571 12 11546677 C T - PRB2 9338 Proline-rich protein BstNI subfamily 2 NM_006248.3 -1 1428 1251 NP_006239.3 P02812 substitution missense exon GRCh37 11546677 11546677 Chr12(GRCh37):g.11546677C>T 335 335 NM_006248.3:c.335G>A p.Arg112Gln p.Arg112Gln 3 168810 235 3' 96.7783 XI.18 0.986555 15.8135 96.7783 XI.18 0.986555 15.8135 0 Proline-rich region Molluscan rhodopsin C-terminal tail A.T hook-like rs201144571 yes no Frequency 1 C 0.000000 0 0.000202 0.000531 0.000075 0.000000 0.000067 0.000038 0.000286 0.000045 0.000202 0.000531 46 10 2 0 1 1 30 1 1 227600 18840 26798 8666 15018 26120 104854 22364 4940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 10 2 0 1 1 30 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8595 4403 12998 5 3 8 0.000581395 0.00068089 0.000615101 0.000581395 0.00068089 0.000615101 347 COSM4767709|COSM4767709|COSM4767709|COSM4767709|COSM4767709 Thyroid|Liver|Large intestine|Haematopoietic and lymphoid tissue|Biliary tract 0.002677|0.000422|0.000450|0.000283|0.002558 747|2371|2220|3530|391 transition G A G>A 0.016 -0.037 R Arg CGA 0.110 Q Gln CAA 0.256 112 11 2 Gorilla 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 244.67 0.00 Tolerated 0.14 II.76 good 1.148E-1 0.087 157 PASS . . . . . . . . . . . ENSG00000121335:ENST00000389362:exon3:c.G335A:p.R112Q PRB2:uc010shk.1:exon3:c.G335A:p.R112Q PRB2:NM_006248:exon3:c.G335A:p.R112Q . . 0.12184874 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.173 . @ . . . . . 1 0.060 . . 238.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R112Q|PRB2|mRNA|CODING|NM_006248|NM_006248.ex.3) 0.0007 0.0006 0.0006 0.0007 0.0006 0.0006 . -1.3578 -1.467 -1.358 c . . . . . 4.998e-04 . . . 0.0004 0.0004 0 0 0 0.0004 0.0015 0.0007 0.0005 0.0003 0 0.0001 0 0.0003 0.0015 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.038 . . exonic exonic exonic . . 0.078 @ . . . 0.33 0.28 182 ENSG00000121335 PRB2 PRB2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.019 . . 0.481 . . . 0.291 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.132 . . 0 0 0 0 0 0 . 0.278 . . 0.121 . . . . . . 0 . . . . . . 0.128 . 0.065 . LowAF 0.29 rs201144571 . . . . . . . . . . . . IV.65 0.00107 ENST00000389362 I.17 -1.67 . 0.460000 P02812 . . . 0.000615 . 0.002 . . . 0.0004 5.67e-05 7.586e-05 0 0 0 4.095e-05 0 3.828e-05 0.0009 0.0021 0 0 0.0010 0.0007 0.0036 0.0021 . . 0.246 . -0.353 -0.353000 . . 0.460000 . . 1.0E-157 0.007 0.175 . 0.095 0.108 . 0.216 . 0.238 -0.353 0.057 0.0007 . . rs76491584 rs201144571 1 1538 15 1/0 0,192,255 +rs563776867 12 11546749 T C - PRB2 9338 Proline-rich protein BstNI subfamily 2 NM_006248.3 -1 1428 1251 NP_006239.3 P02812 substitution missense exon GRCh37 11546749 11546749 Chr12(GRCh37):g.11546749T>C 263 263 NM_006248.3:c.263A>G p.Lys88Arg p.Lys88Arg 3 168810 163 3' 96.7783 XI.18 0.986555 15.8135 96.7783 XI.18 0.986555 15.8135 0 Proline-rich region Molluscan rhodopsin C-terminal tail A.T hook-like rs563776867 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000072 0.000050 0.000162 0.000000 0.000000 0.000210 0.000052 0.000000 0.000000 0.000210 18 1 5 0 0 6 6 0 0 250028 19992 30956 9318 17066 28590 114574 23908 5624 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 1 5 0 0 6 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4203574|COSM4203574|COSM4203574 Thyroid|Pancreas|Lung 0.002677|0.000576|0.000837 747|1736|2389 transition A G A>G 0.409 0.367 K Lys AAA 0.425 R Arg AGA 0.205 88 11 1 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 0.6 III.40 unknown 0.0 0.0 178 PASS . . . . . . 0.0004 . 0.002 . . ENSG00000121335:ENST00000389362:exon3:c.A263G:p.K88R PRB2:uc010shk.1:exon3:c.A263G:p.K88R PRB2:NM_006248:exon3:c.A263G:p.K88R . . 0.10958904 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.032 . . 146.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K88R|PRB2|mRNA|CODING|NM_006248|NM_006248.ex.3) . . . . . . . -0.9848 -1.128 -0.985 c . . . . . 1.195e-04 . . . 0 7.357e-05 0 0.0002 0 7.951e-05 0 0.0001 0 6.263e-05 0 0.0001 0 6.132e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.036 . . exonic exonic exonic . . 0.193 0.0004 . . . . . . ENSG00000121335 PRB2 PRB2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.018 . . 0.452 . . . 0.469 0.265 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.277 . . 0 0 0 0 0 0 . 0.442 . . 0.317 . . . . . . 0 . . . . . . 0.201 . 0.126 . LowAF 0.67 rs563776867 . . . . . . . . . . . . VI.26 . ENST00000389362 1.VI 1.VI . 0.610000 P02812 . . . . . 0.025 . . . 0 6.529e-05 0.0002 0 0 0 3.817e-05 0 0.0002 0.0002 0.0001 0 0 0 0 0.0002 0 . . 0.246 . 0.378 0.378000 . . 0.610000 . . 1.0E-178 0.001 0.137 . 0.016 0.141 . 0.048 . 0.272 0.378 0.062 . . . . . 1 1538 10 1/0 0,211,255 +rs75750739 12 12483030 C T - MANSC1 25505 MANSC domain containing 1 NM_018050.2 -1 2297 1296 NP_060520.2 Q9H8J5 substitution synonymous exon GRCh37 12483030 12483030 Chr12(GRCh37):g.12483030C>T 1227 1227 NM_018050.2:c.1227G>A p.Ser409= p.Ser409Ser 4 863 3' 80.5225 9.09755 0.607544 3.85554 80.5225 9.09755 0.607544 3.85554 0 rs75750739 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.005100 0.000000 0.005000 0.004300 0.006002 0.001416 0.003022 0.000690 0.000053 0.003314 0.009083 0.009268 0.004021 0.009268 1663 34 104 7 1 102 1150 239 26 277084 24016 34416 10146 18870 30778 126604 25788 6466 0.000029 0.000000 0.000000 0.000000 0.000000 0.000065 0.000047 0.000000 0.000000 4 0 0 0 0 1 3 0 0 1655 34 104 7 1 100 1144 239 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8514 4398 12912 86 8 94 0.01 0.00181571 0.00722743 0.01 0.00181571 0.00722743 86 transition G A G>A 0.000 -1.732 S Ser TCG 0.056 S Ser TCA 0.148 409 255 PASS . 0.0023 0.0028 . 0.01 . 0.0026 0.0043 . 0.005 0.0051 . . MANSC1:NM_018050:exon4:c.G1227A:p.S409S . . 0.5540541 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S409|MANSC1|mRNA|CODING|NM_018050|NM_018050.ex.4) 0.0018 0.0072 0.01 0.0018 0.0072 0.01 . -0.1723 . . . . . . . . 5.975e-03 . . . 0.0015 0.0049 0.0022 0.0002 0.0095 0.0075 0.0084 0.0029 0.0013 0.0057 0.0021 0.0001 0.0094 0.0084 0.0086 0.0029 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.2 0.3 182 ENSG00000111261 MANSC1 MANSC1 . . . . . . 403 0.00620229 64976 390 0.00650152 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75750739 . . . . . . . . . . . . . . . . . . . . . . . 0.007227 . . . . . 0.0012 0.0059 0.0030 0.0006 5.798e-05 0.0096 0.0090 0.0033 0.0033 0.0017 0.0066 0.0048 0.0033 0 0.0074 0.0100 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs75750739 rs75750739 1 1538 10 1/0 0,255,255 +rs77117939 12 13153388 G T - HEBP1 17176 Heme binding protein 1 NM_015987.4 -1 1209 570 NP_057071.2 Q9NRV9 substitution upstream GRCh37 13153388 13153388 Chr12(GRCh37):g.13153388G>T -340 -340 NM_015987.4:c.-340C>A p.? p.? 1 605826 -418 5' 83.8341 10.0781 0.987929 8.27506 83.8341 10.0781 0.987929 8.27506 0 rs77117939 no no 0 G 0.000000 0 transversion C A C>A 0.047 1.093 255 PASS . . . . . . . . . . . . . . . . 0.43421054 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 76.0 . . . . . . . . . . 0.7202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.48 182 . . HTR7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs77117939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77117939 rs77117939 1 1538 10 1/0 0,255,255 +rs77117939 12 13153388 G T - HTR7P1 30411 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 NR_002774.3 1 4389 0 substitution exon GRCh37 13153388 13153388 Chr12(GRCh37):g.13153388G>T 13 13 NR_002774.3:n.13G>T 1 rs77117939 no no 0 G 0.000000 0 transversion G T G>T 0.047 1.093 255 PASS . . . . . . . . . . . . . . . . 0.43421054 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 76.0 . . . . . . . . . . 0.7202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.48 182 . . HTR7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs77117939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77117939 rs77117939 1 1538 10 1/0 0,255,255 +rs5021038 12 13153397 G C - HEBP1 17176 Heme binding protein 1 NM_015987.4 -1 1209 570 NP_057071.2 Q9NRV9 substitution upstream GRCh37 13153397 13153397 Chr12(GRCh37):g.13153397G>C -349 -349 NM_015987.4:c.-349C>G p.? p.? 1 605826 -427 5' 83.8341 10.0781 0.987929 8.27506 83.8341 10.0781 0.987929 8.27506 0 rs5021038 yes no Frequency/1000G 2 G 0.000000 0 0.002959 0.000613 0.003300 0.000000 0.000707 0.000000 0.005460 0.000000 0.005128 0.005460 77 5 2 0 1 0 65 0 4 26024 8162 606 234 1414 0 11904 2924 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 5 2 0 1 0 65 0 4 0 0 0 0 0 0 0 0 0 PASS 46 Genomes transversion C G C>G 0.000 -0.521 222 PASS 0.04 0.2 0.27 0.13 0.32 . . . . . . . . . . . 0.22093023 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 86.0 . . . . . . . . . . 0.6101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.42 0.46 182 . . HTR7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs5021038 0.109 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0030 0.0033 0 0.0007 0 0.0055 0.0051 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . 0.32 rs5021038 rs5021038 rs5021038 rs5021038 1 1538 10 1/0 0,243,255 +rs5021038 12 13153397 G C - HTR7P1 30411 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 NR_002774.3 1 4389 0 substitution exon GRCh37 13153397 13153397 Chr12(GRCh37):g.13153397G>C 22 22 NR_002774.3:n.22G>C 1 rs5021038 yes no Frequency/1000G 2 G 0.000000 0 0.002959 0.000613 0.003300 0.000000 0.000707 0.000000 0.005460 0.000000 0.005128 0.005460 77 5 2 0 1 0 65 0 4 26024 8162 606 234 1414 0 11904 2924 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 5 2 0 1 0 65 0 4 0 0 0 0 0 0 0 0 0 PASS 46 Genomes transversion G C G>C 0.000 -0.521 222 PASS 0.04 0.2 0.27 0.13 0.32 . . . . . . . . . . . 0.22093023 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 86.0 . . . . . . . . . . 0.6101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.42 0.46 182 . . HTR7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs5021038 0.109 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0030 0.0033 0 0.0007 0 0.0055 0.0051 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . 0.32 rs5021038 rs5021038 rs5021038 rs5021038 1 1538 10 1/0 0,243,255 +rs71530944 12 14613631 A G - ATF7IP 20092 Activating transcription factor 7 interacting protein NM_181352.1 1 9019 3837 NP_851997.1 substitution synonymous exon GRCh37 14613631 14613631 Chr12(GRCh37):g.14613631A>G 2385 2385 NM_181352.1:c.2385A>G p.Val795= p.Val795Val 9 613644 203 3' 86.0307 9.02334 0.961614 5.24455 86.0307 9.02334 0.961614 5.24455 0 Cryptic Acceptor Strongly Activated 14613642 5.50595 0.291316 80.8777 6.69776 0.390389 80.8777 rs71530944 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.001574 0.000166 0.000668 0.000394 0.000053 0.000130 0.002710 0.001863 0.001392 0.002710 436 4 23 4 1 4 343 48 9 277030 24032 34408 10148 18860 30774 126576 25768 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 434 4 23 4 1 4 341 48 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4405 12980 25 1 26 0.00290698 0.000226963 0.00199908 0.00290698 0.000226963 0.00199908 126 transition A G A>G 0.992 0.044 V Val GTA 0.114 V Val GTG 0.468 795 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0029 . 0.001 . . . . . . 0.5106383 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 94.0 . . . 0.0002 0.002 0.0029 0.0002 0.002 0.0029 . I.25 . . . . . . . . 1.642e-03 . . . 0.0002 0.0011 0.0003 0 0.0018 0.0020 0.0014 0.0002 0.0001 0.0016 0.0003 0.0001 0.0018 0.0028 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.55 0.27 182 ENSG00000171681 ATF7IP ATF7IP . . . . . . 96 0.00147747 64976 93 0.00155036 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs71530944 . . . . . . . . . . . . . . . . . . . . . . . 0.001999 . . . . . 0.0001 0.0014 0.0007 0.0004 5.801e-05 0.0018 0.0025 0.0009 0.0001 0.0002 0.0026 0 0 0 0.0023 0.0045 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . rs71530944 rs71530944 rs71530944 1 1538 10 1/0 0,255,255 +rs147638471 12 14631338 C T - ATF7IP 20092 Activating transcription factor 7 interacting protein NM_181352.1 1 9019 3837 NP_851997.1 substitution missense exon GRCh37 14631338 14631338 Chr12(GRCh37):g.14631338C>T 3053 3053 NM_181352.1:c.3053C>T p.Pro1018Leu p.Pro1018Leu 12 613644 -69 5' 87.8485 8.76378 0.975606 4.20219 87.8485 8.76378 0.975606 3.93642 0 rs147638471 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000069 0.000083 0.000000 0.000000 0.000159 0.000032 0.000103 0.000000 0.000000 0.000159 19 2 0 0 3 1 13 0 0 276952 24022 34408 10146 18860 30782 126480 25794 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 2 0 0 3 1 13 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 178 transition C T C>T 0.913 1.013 P Pro CCG 0.115 L Leu CTG 0.404 1018 11 8 Cow -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 111.26 74.98 Deleterious 0.03 III.87 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.4489796 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.738 . @ . . . . . 1 0.957 . . 98.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.2889 0.262 0.289 c . . . . . 6.314e-05 . . . 0 4.41e-05 0 0 0 7.123e-05 0 6.061e-05 0 5.65e-05 0 0.0001 0 7.36e-05 0 6.096e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.211 . . exonic exonic exonic . . 0.434 0.0002 . . . 0.24 0.28 182 ENSG00000171681 ATF7IP ATF7IP . . . 0.016 0.128 . . . . . . . Uncertain_significance . 0 . 0.443 . . . . T 0.392 0.017 . . 37 . 0.323 . . 0.059 . . . 0.181 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.320 . . 0 0 0 0 0 0 . 0.899 . . 0.651 . . . . . . 0 0.721 . . . . . 0.108 . 0.452 . HET 0.01 rs147638471 . . . . . . . . . . . . IV.25 0.0 . V.82 III.85 . 0.010000 . . . . 0.000077 . 0.233 . . III.85 0 5.691e-05 0 0 0.0002 0 8.971e-05 0 3.249e-05 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.730 . 2.745 2.745000 . . 0.010000 . . 1.0E-255 0.177 0.238 . 0.562 0.965 . 0.207 . 0.490 2.745 0.598 0.0001 . . rs147638471 rs147638471 1 1538 10 1/0 0,255,255 +. 12 16055926 G GT - STRAP 30796 Serine/threonine kinase receptor associated protein NM_007178.3 1 1907 1053 NP_009109.3 Q9Y3F4 duplication 3'UTR GRCh37 16055927 16055928 Chr12(GRCh37):g.16055927dup *15 *15 NM_007178.3:c.*15dup p.? p.? 10 605986 77 3' 89.9124 8.56694 0.980153 7.42774 89.9124 8.56694 0.980153 7.34016 0 Cryptic Acceptor Strongly Activated 16055932 2.08571 0.000699 71.7167 5.07928 0.128161 78.0453 rs71042275 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999983 0.999955 0.999961 1.000000 1.000000 1.000000 0.999991 0.999945 1.000000 1.000000 235116 22305 25611 8936 15650 23568 115701 18017 5328 235120 22306 25612 8936 15650 23568 115702 18018 5328 0.999966 0.999910 0.999922 1.000000 1.000000 1.000000 0.999983 0.999889 1.000000 117556 11152 12805 4468 7825 11784 57850 9008 2664 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 3 3 8252 4261 12513 0 0.000703565 0.000239693 1 0.999296 0.99976 63 T 255 Pass 1. 1. 1. 0.99 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . UTR_3_PRIME(MODIFIER||||STRAP|mRNA|CODING|NM_007178|NM_007178.ex.10) . . . 1. 1. 1. . . . . . . . . . . 1.00 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000023734 STRAP STRAP . . NM_007178:c.*14_*15insT . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs71042275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1.0000 1 1 0.9999 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs71581962 rs71042275 rs71042275 1 1538 255 1.I 0,0,255 +. 12 22678528 G T - C2CD5 29062 C2 calcium-dependent domain containing 5 NM_001286175.1 -1 4635 3165 NP_001273104.1 substitution intron GRCh37 22678528 22678528 Chr12(GRCh37):g.22678528G>T 445+16 445+16 NM_001286175.1:c.445+16C>A p.? p.? 5 5 16 5' 75.895 9.06592 0.935484 0 75.895 9.06592 0.935484 0 0 transversion C A C>A 0.315 0.367 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.5630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000111731 C2CD5 C2CD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv482e1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs192384649 12 23689616 G A - SOX5 11201 SRY (sex determining region Y)-box 5 NM_006940.4 -1 4316 2292 NP_008871.3 P35711 substitution intron GRCh37 23689616 23689616 Chr12(GRCh37):g.23689616G>A 1772-13 1772-13 NM_006940.4:c.1772-13C>T p.? p.? 14 13 604975 -13 3' 86.9325 X.25 0.994285 9.41856 89.7577 11.428 0.996256 9.81112 0.0259639 Cryptic Acceptor Weakly Activated 23689603 X.25 0.994285 86.9325 11.428 0.996256 89.7577 rs192384649 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.001000 0.002900 0.001414 0.000250 0.000959 0.000494 0.000053 0.001527 0.002258 0.000039 0.002014 0.002258 391 6 33 5 1 47 285 1 13 276618 24018 34406 10124 18844 30780 126230 25760 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 389 6 33 5 1 47 283 1 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4405 12981 24 1 25 0.0027907 0.000226963 0.00192219 0.0027907 0.000226963 0.00192219 70 transition C T C>T 0.024 0.367 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0008 0.0029 . 0.001 0.001 . . . . . 0.47619048 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0002 0.0019 0.0028 0.0002 0.0019 0.0028 . 0.5431 . . . . . . . . 1.397e-03 . . . 0.0002 0.0013 0.0005 0.0002 0 0.0020 0 0.0017 0.0002 0.0013 0.0005 0.0001 0 0.0018 0 0.0017 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.62 0.44 182 ENSG00000134532 SOX5 SOX5 . . . . . . 96 0.00147747 64976 92 0.00153369 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192384649 . . . . . . . . . . . . . . . . . . . . . . . 0.001922 . . . . . 0.0001 0.0013 0.0010 0.0005 5.807e-05 4.491e-05 0.0020 0.0013 0.0015 0.0005 0.0024 0.0012 0 0 0 0.0041 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs192384649 rs192384649 1 1538 10 1/0 0,255,255 +rs144632372 12 24985659 C T - BCAT1 976 Branched chain amino-acid transaminase 1, cytosolic NM_001178093.1 -1 9268 1197 NP_001171564.1 substitution missense exon GRCh37 24985659 24985659 Chr12(GRCh37):g.24985659C>T 1078 1078 NM_001178093.1:c.1078G>A p.Glu360Lys p.Glu360Lys 9 113520 -3 5' 80.8311 VIII.29 0.951129 0.536137 83.5791 9.78232 0.985246 1.25578 0.0667975 Cryptic Donor Strongly Activated 24985657 VIII.29 0.951129 80.8311 9.78232 0.985246 83.5791 Branched-chain amino acid aminotransferase II rs144632372 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.002300 0.002000 0.000000 0.006000 0.001400 0.004238 0.000983 0.001391 0.003394 0.000000 0.003513 0.006544 0.003930 0.004479 0.006544 1128 23 45 33 0 101 798 100 28 266180 23406 32356 9722 18298 28752 121946 25448 6252 0.000015 0.000000 0.000000 0.000000 0.000000 0.000139 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 1124 23 45 33 0 97 798 100 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8217 3831 12048 55 3 58 0.00664894 0.000782473 0.00479101 0.00664894 0.000782473 0.00479101 111 transition G A G>A 0.000 -0.360 E Glu GAG 0.583 K Lys AAG 0.575 360 12 8 Baker's yeast 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 61.81 0.00 Tolerated 0.14 III.18 good 3.022E-1 0.001543 255 PASS 0.002 0.0032 0.0028 . 0.01 0.0023 0.0024 0.0014 . 0.006 0.002 . . . . . 0.4722222 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.268 . @ . . . . . 1 0.096 . . 36.0 . . . 0.0008 0.0048 0.0066 0.0008 0.0048 0.0066 . -1.1428 -1.077 -1.143 c . . . . . 3.971e-03 . . . 0.0011 0.0046 0.0017 0 0.0052 0.0072 0.0019 0.0032 0.0009 0.0049 0.0018 0 0.0041 0.0075 0.0039 0.0032 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.155 0.0024 . . . 0.25 0.07 182 ENSG00000060982 BCAT1 BCAT1 . . . 0.003 0.096 . 290 0.00446319 64976 278 0.00463441 59986 Likely_benign . 0 . 0.366 . . . . T 0.328 0.013 . . 37 . 0.031 . . 0.355 . . . 0.096 0.225 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.156 . . 0.208 . . . . . . 0 0.074 . . . . . 0.035 . 0.118 . HET 0.65 rs144632372 . . . . . . . 0.003205128205128205 0.0020325203252032522 0.0027624309392265192 0.0 0.006596306068601583 2.1322 9.56E-4 . 5.II 0.397 . 0.950000 . 0.0001 0.002 . 0.004791 . 0.147 . . . 0.0007 0.0042 0.0014 0.0034 0 0.0038 0.0065 0.0042 0.0035 0.0014 0.0045 0 0.0033 0 0.0049 0.0069 0.0061 . . 0.986 . 0.133 0.133000 . . 0.950000 . . 1.0E-255 0.053 0.213 . 0.219 0.964 . 0.203 . 0.140 0.133 -0.039 0.01 . . rs144632372 rs144632372 1 1538 10 1/0 0,255,255 +rs368031265 12 30873793 C T - CAPRIN2 21259 Caprin family member 2 NM_001002259.2 -1 4485 3384 NP_001002259.1 Q6IMN6 substitution synonymous exon GRCh37 30873793 30873793 Chr12(GRCh37):g.30873793C>T 2100 2100 NM_001002259.2:c.2100G>A p.Gln700= p.Gln700Gln 12 610375 -49 5' 79.4649 7.30369 0.934667 1.62203 79.4649 7.30369 0.934667 1.42847 0 Cytoplasmic activation/proliferation-associated protein-1 C term rs368031265 yes no Frequency 1 C 0.000000 0 0.000167 0.000065 0.000030 0.002337 0.000000 0.000000 0.000135 0.000000 0.000183 0.002337 41 1 1 23 0 0 15 0 1 245924 15302 33550 9840 17244 30782 111434 22298 5474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 1 1 23 0 0 15 0 1 0 0 0 0 0 0 0 0 0 PASS 65 Exomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 101 transition G A G>A 1.000 1.255 Q Gln CAG 0.744 Q Gln CAA 0.256 700 255 PASS . . . . . . . . . . . . . . . . 0.5416667 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 48.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.85 . . . . . . . . 1.184e-04 . . . 9.651e-05 9.937e-05 0 0 0 0.0002 0 0 0.0001 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.55 182 ENSG00000110888 CAPRIN2 CAPRIN2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs368031265 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832361 0.000154 . . . . IV.46 6.535e-05 0.0002 2.981e-05 0.0023 0 0 0.0001 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs368031265 rs368031265 1 1538 10 1/0 0,255,255 +rs2111769 12 31244809 T C - DDX11 2736 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NM_001257144.1 1 3800 2913 NP_001244073.1 Q96FC9 substitution splice site GRCh37 31244809 31244809 Chr12(GRCh37):g.31244809T>C 1242+4 1242+4 NM_001257144.1:c.1242+4T>C p.? p.? 10 10 601150 4 5' 85.464 6.99123 0.807032 12.0713 84.8523 9.73418 0.931139 14.5305 0.179656 Cryptic Donor Strongly Activated 31244805 6.99123 0.807032 85.464 9.73418 0.931139 84.8523 rs2111769 yes no Frequency 1 C uncertain_significance 0.000000 0 0.000007 0.000042 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000042 2 1 0 0 0 0 0 1 0 275518 23762 34360 10122 18830 30778 125772 25460 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes RCV000202837.1 unknown clinical testing VUS 1 not specified COSM3954644 Lung 0.000418 2391 transition T C T>C 0.008 -1.086 183 PASS . . . . . . . . . . . . . . . . 0.11949685 . . unknown 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000202837.1 not_specified MedGen CN169374 2 . . . 477.0 . . . . . . . . . . -0.3623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.05 182 ENSG00000013573 DDX11 DDX11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2111769 . . . . . . . . . . . . . . . . . . . . 0 0.006 . . . . . . . 0 4.082e-06 0 0 0 4.546e-05 0 0 0 0.0001 3.277e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs2111769 rs2111769 rs2111769 rs2111769 1 1538 10 1/0 0,161,255 +rs200316146 12 31247782 C G - DDX11 2736 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NM_001257144.1 1 3800 2913 NP_001244073.1 Q96FC9 substitution intron GRCh37 31247782 31247782 Chr12(GRCh37):g.31247782C>G 1482+26 1482+26 NM_001257144.1:c.1482+26C>G p.? p.? 14 14 601150 26 5' 72.4424 6.37633 0.736216 7.11345 72.4424 6.37633 0.736216 7.08024 0 rs200316146 yes no Frequency 1 C 0.000000 0 0.000040 0.000348 0.000000 0.000201 0.000000 0.000000 0.000008 0.000000 0.000000 0.000348 11 8 0 2 0 0 1 0 0 271942 22974 34052 9968 18654 30046 124378 25504 6366 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 8 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.651 185 PASS . . . . . . . . . . . . . . . . 0.124242425 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 330.0 . . . . . . . . . . -0.5395 . . . . . . . . 2.920e-04 . . . 0.0022 0.0004 0 0 0 0.0002 0 6.666e-05 0.0016 0.0002 0 0 0 5.867e-05 0 6.704e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.07 182 ENSG00000013573 DDX11 DDX11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200316146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 2.901e-05 0 0.0002 0 0 9.142e-06 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs200316146 rs200316146 1 1538 10 1/0 0,177,255 +rs2909389 12 31250985 G A - DDX11 2736 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NM_001257144.1 1 3800 2913 NP_001244073.1 Q96FC9 substitution intron GRCh37 31250985 31250985 Chr12(GRCh37):g.31250985G>A 1875+54 1875+54 NM_001257144.1:c.1875+54G>A p.? p.? 18 18 601150 54 5' 86.067 X.46 0.994854 8.66907 86.067 X.46 0.994854 8.39135 0 rs2909389 no no 0 G 0.000000 0 0.000134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000069 0.000948 0.000000 0.000948 4 0 0 0 0 0 1 3 0 29802 8484 802 300 1600 0 14512 3166 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.000 -1.893 192 PASS . . . . . . . . . . . . . . . . 0.13913043 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . . . . . . . -0.5182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.07 0.04 182 ENSG00000013573 DDX11 DDX11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2909389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0009 6.891e-05 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs2909389 rs2909389 rs2909389 rs2909389 1 1538 10 1/0 0,224,255 +rs61918669 12 31253544 G A - DDX11 2736 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NM_001257144.1 1 3800 2913 NP_001244073.1 Q96FC9 substitution intron GRCh37 31253544 31253544 Chr12(GRCh37):g.31253544G>A 1876-25 1876-25 NM_001257144.1:c.1876-25G>A p.? p.? 19 18 601150 -25 3' 85.7566 VII.43 0.965344 7.45728 85.7566 VII.43 0.965344 7.91031 0 rs61918669 yes no Frequency 1 G 0.000000 0 0.000348 0.000000 0.000085 0.000000 0.003026 0.000714 0.000101 0.000054 0.000000 0.003026 60 0 2 0 35 15 7 1 0 172580 16038 23520 8046 11566 21008 69146 18584 4672 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 0 2 0 35 15 7 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 200 PASS . . . . . . . . . . . . . . . . 0.15972222 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 288.0 . . . . . . . . . . -0.3182 . . . . . . . . 1.048e-03 . . . 0.0016 0.0023 0 0.0019 0 0.0013 0 0.0041 0.0020 0.0028 0 0 0 0.0017 0 0.0041 . . . . . . UTR3 intronic intronic . . . @ . . . 0.46 0.45 182 ENSG00000013573 DDX11 DDX11 ENST00000539049:c.*1027G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61918669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 8.814e-05 0 0.0027 6.6e-05 9.198e-05 0 0.0007 0 0.0003 0 0 0.0050 0 0.0001 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs61918669 rs61918669 rs61918669 rs61918669 1 1538 10 1/0 0,185,255 +rs79393011 12 32886672 A G - DNM1L 2973 Dynamin 1-like NM_001278464.1 1 4654 2250 NP_001265393.1 substitution synonymous exon GRCh37 32886672 32886672 Chr12(GRCh37):g.32886672A>G 1509 1509 NM_001278464.1:c.1509A>G p.Glu503= p.Glu503Glu 14 603850 24 3' 92.288 X.63 0.994408 8.15766 92.288 X.63 0.994408 8.19337 0 Dynamin central domain rs79393011 yes no Frequency/1000G 2 A benign,likely_benign 0.000000 0 0.005391 0.003000 0.004100 0.000000 0.016900 0.002900 0.008022 0.002413 0.007089 0.008768 0.000053 0.003281 0.011777 0.006825 0.009749 0.011777 2223 58 244 89 1 101 1491 176 63 277108 24034 34418 10150 18868 30782 126606 25788 6462 0.000115 0.000083 0.000058 0.000000 0.000000 0.000065 0.000158 0.000155 0.000310 16 1 1 0 0 1 10 2 1 2191 56 242 89 1 99 1471 172 61 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8507 4398 12905 93 8 101 0.010814 0.00181571 0.00776565 0.010814 0.00181571 0.00776565 209 RCV000124756.3|RCV000404939.1 germline|germline|germline clinical testing|clinical testing|clinical testing Benign|Likely benign 2|1 not specified|Lethal Encephalopathy transition A G A>G 0.937 0.609 E Glu GAA 0.417 E Glu GAG 0.583 503 255 PASS . 0.01 0.01 . 0.02 0.003 0.0054 0.0029 . 0.017 0.0041 . . . . . 0.36585367 . . germline 15 . . 1.2.2016 0 0 0 0 1 0 1 1 1 1 0 0 . . . . . . . . Benign//\%//\@Likely//\@benign Benign|Likely_benign RCV000124756.3|RCV000404939.1 not_specified|Lethal_Encephalopathy MedGen|MedGen CN169374|CN239368 2 . . . 41.0 . . . 0.0018 0.0078 0.011 0.0018 0.0078 0.011 . 0.9705 . . . . . . . . 7.719e-03 . . . 0.0020 0.0082 0.0064 0 0.0058 0.0132 0.0070 0.0041 0.0020 0.0075 0.0063 0 0.0067 0.0108 0.0072 0.0041 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0054 . . . 0.45 0.27 182 ENSG00000087470 DNM1L DNM1L . . . . . . 665 0.0102345 64976 638 0.0106358 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79393011 0.011 0.007 . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000124756.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000124756.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . 0.007766 . . . . . 0.0019 0.0078 0.0071 0.0084 5.798e-05 0.0065 0.0113 0.0099 0.0033 0.0033 0.0098 0.0060 0.0199 0 0.0089 0.0150 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs79393011 rs79393011 1 1538 10 1/0 0,255,255 +rs2405078 12 40875390 C A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution missense exon GRCh37 40875390 40875390 Chr12(GRCh37):g.40875390C>A 6935 6935 ENST00000454784.4:c.6935C>A p.Pro2312Gln p.Pro2312Gln 49 612170 2536 3' 86.6586 8.51688 0.838186 5.0457 86.6586 8.51688 0.838186 5.0457 0 rs2405078 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.402356 0.215600 0.620700 0.399800 0.414500 0.436600 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 8 0 4 0 0 24 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 1590 Exomes transversion C A C>A 0.000 -0.924 P Pro CCA 0.274 Q Gln CAA 0.256 2312 4 1 -1 -1 -3 0.39 0.89 8 10.V 32.5 85 76 C0 353.86 0.00 Not scored 0.0 0.0 210 PASS . . . . . 0.22 0.4 0.44 0.4 0.41 0.62 ENSG00000205592:ENST00000454784:exon49:c.C6935A:p.P2312Q . UNKNOWN . . 0.14367816 . . @ 25 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 174.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cAa|P2879Q|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4041 . . . . . . . . 1.176e-03 . . . 0 0 . . . 0 . . 0 0 . . . . . . nonsynonymous_SNV . unknown . . . exonic intergenic exonic . . . 0.4024 . . . 0.49 0.43 182 ENSG00000205592 . MUC19 . dist\x3d62355\x3bdist\x3d63462 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2405078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . . 0 0 . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . rs2405078 rs2405078 rs2405078 rs2405078 1 1538 10 1/0 0,233,255 +. 12 40879693 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879693 40879693 Chr12(GRCh37):g.40879693T>C *345 *345 ENST00000454784.4:c.*345T>C p.? p.? 49 612170 -5438 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.006433 0.015311 0.003623 0.000000 0.000000 0.000000 0.004628 0.001427 0.009868 0.015311 61 32 1 0 0 0 23 2 3 9482 2090 276 136 304 0 4970 1402 304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 32 1 0 0 0 23 2 3 0 0 0 0 0 0 0 0 0 RF 176 Genomes transition T C T>C 0.000 -0.198 172 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13243762 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 521.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N4313|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*345T>C dist\x3d66658\x3bdist\x3d59159 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0153 0.0064 0.0036 0 0 0.0014 0.0046 0.0099 . . . . . . . . . . . 1.0E-172 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,158,255 +. 12 40879910 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879910 40879910 Chr12(GRCh37):g.40879910A>G *562 *562 ENST00000454784.4:c.*562A>G p.? p.? 49 612170 -5221 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs933676860 yes no Frequency 1 A 0.000000 0 0.000958 0.003406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003406 15 15 0 0 0 0 0 0 0 15662 4404 252 272 580 0 8852 936 366 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 15 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 111 Genomes transition A G A>G 0.000 0.609 193 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14123377 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 616.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I4386V|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*562A>G dist\x3d66875\x3bdist\x3d58942 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0010 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,151,255 +. 12 40879913 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879913 40879913 Chr12(GRCh37):g.40879913A>G *565 *565 ENST00000454784.4:c.*565A>G p.? p.? 49 612170 -5218 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Acceptor Strongly Activated 40879919 0.010259 0.255684 0.012798 60.1917 0.000130 0.000465 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000465 2 2 0 0 0 0 0 0 0 15390 4300 258 274 564 0 8686 956 352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 116 Genomes transition A G A>G 0.000 -1.570 191 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13689482 . . @ 82 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 599.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S4387G|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*565A>G dist\x3d66878\x3bdist\x3d58939 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,152,255 +. 12 40879918 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879918 40879918 Chr12(GRCh37):g.40879918G>A *570 *570 ENST00000454784.4:c.*570G>A p.? p.? 49 612170 -5213 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40879919 0.500735 0.01313 68.3453 V.33 0.532179 77.3061 transition G A G>A 0.000 -1.489 192 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14840989 . . @ 84 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 566.0 . . SYNONYMOUS_STOP(LOW|SILENT|taG/taA|*4388|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*570G>A dist\x3d66883\x3bdist\x3d58934 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,156,255 +. 12 40879919 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879919 40879919 Chr12(GRCh37):g.40879919G>A *571 *571 ENST00000454784.4:c.*571G>A p.? p.? 49 612170 -5212 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 transition G A G>A 0.000 -0.360 200 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15904936 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 547.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G4389S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*571G>A dist\x3d66884\x3bdist\x3d58933 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,158,255 +rs77714081 12 40879936 T G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879936 40879936 Chr12(GRCh37):g.40879936T>G *588 *588 ENST00000454784.4:c.*588T>G p.? p.? 49 612170 -5195 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs77714081 no no 0 G 0.000000 0 0.000915 0.000923 0.020548 0.000000 0.004098 0.000000 0.000156 0.004717 0.000000 0.020548 9 2 3 0 1 0 1 2 0 9840 2168 146 232 244 0 6430 424 196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 3 0 1 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 190 Genomes transversion T G T>G 0.000 -3.346 228 PASS . . . . . . . . . . . . . UNKNOWN . . 0.23606557 . . @ 144 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 610.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgT/tgG|C4394W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.45 0.35 182 ENSG00000205592 . MUC19 ENST00000454784:c.*588T>G dist\x3d66901\x3bdist\x3d58916 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77714081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0009 0.0205 0 0.0041 0.0047 0.0002 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . rs77714081 rs77714081 1 1538 10 1/0 0,161,238 +rs78154920 12 40879937 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879937 40879937 Chr12(GRCh37):g.40879937A>G *589 *589 ENST00000454784.4:c.*589A>G p.? p.? 49 612170 -5194 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Acceptor Strongly Activated 40879945 0.000627 70.9025 0.0357628 0.001955 70.917 rs78154920 no no 0 A 0.000000 0 0.000613 0.000707 0.012500 0.000000 0.002924 0.000000 0.000000 0.004202 0.000000 0.012500 7 2 2 0 1 0 0 2 0 11412 2830 160 244 342 0 7130 476 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 2 0 1 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 164 Genomes transition A G A>G 0.000 -0.360 218 PASS . . . . . . . . . . . . . UNKNOWN . . 0.2076412 . . @ 125 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 602.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T4395A|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.47 0.36 182 ENSG00000205592 . MUC19 ENST00000454784:c.*589A>G dist\x3d66902\x3bdist\x3d58915 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78154920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0006 0.0125 0 0.0029 0.0042 0 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs78154920 rs78154920 1 1538 10 1/0 0,159,248 +rs370171939 12 40880427 G C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40880427 40880427 Chr12(GRCh37):g.40880427G>C *1079 *1079 ENST00000454784.4:c.*1079G>C p.? p.? 49 612170 -4704 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40880421 2.57415 0.097343 68.3867 3.09325 0.115663 67.6269 rs370171939 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5162 2508 84 28 292 0 1572 546 132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 354 Genomes transversion G C G>C 0.000 -0.117 174 PASS . . . . . . . . . . . . . UNKNOWN . . 0.10031847 . . @ 63 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 628.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S4558T|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1079G>C dist\x3d67392\x3bdist\x3d58425 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs370171939 0.076 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . 0.076 . . rs370171939 rs370171939 1 1538 10 1/0 0,147,255 +rs374475412 12 40880440 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40880440 40880440 Chr12(GRCh37):g.40880440A>G *1092 *1092 ENST00000454784.4:c.*1092A>G p.? p.? 49 612170 -4691 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs374475412 yes no Frequency/1000G 2 0.000000 0 0.469249 0.386500 0.546000 0.422600 0.508000 0.530300 0.001078 0.002618 0.006579 0.000000 0.000000 0.000000 0.000275 0.000000 0.000000 0.006579 8 6 1 0 0 0 1 0 0 7422 2292 152 104 310 0 3634 748 182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 6 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 251 Genomes transition A G A>G 0.000 -3.265 159 PASS . . . . . 0.39 0.47 0.53 0.42 0.51 0.55 . . UNKNOWN . . 0.11130137 . . @ 65 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 584.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K4562|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.4692 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1092A>G dist\x3d67405\x3bdist\x3d58412 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs374475412 0.098 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0011 0.0066 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . 0.098 . . rs374475412 rs374475412 1 1538 10 1/0 0,152,255 +rs377712357 12 40880446 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40880446 40880446 Chr12(GRCh37):g.40880446T>C *1098 *1098 ENST00000454784.4:c.*1098T>C p.? p.? 49 612170 -4685 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs377712357 yes no Frequency/1000G 2 0.000000 0 0.469249 0.386500 0.546000 0.422600 0.508000 0.530300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7214 2238 142 100 294 0 3562 704 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 264 Genomes transition T C T>C 0.000 -0.198 180 PASS . . . . . 0.39 0.47 0.53 0.42 0.51 0.55 . . UNKNOWN . . 0.112396695 . . @ 68 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 605.0 . . SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T4564|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.4692 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1098T>C dist\x3d67411\x3bdist\x3d58406 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs377712357 0.087 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . 0.087 . . rs377712357 rs377712357 1 1538 10 1/0 0,150,255 +rs112864659 12 40880465 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40880465 40880465 Chr12(GRCh37):g.40880465A>G *1117 *1117 ENST00000454784.4:c.*1117A>G p.? p.? 49 612170 -4666 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs112864659 no no 0 0.000000 0 0.001020 0.000498 0.000000 0.000000 0.000000 0.000000 0.001714 0.000000 0.000000 0.001714 7 1 0 0 0 0 6 0 0 6864 2010 140 100 256 0 3500 684 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 281 Genomes transition A G A>G 0.000 -2.700 190 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13420622 . . @ 82 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 611.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N4571D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.8194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.45 0.34 182 ENSG00000205592 . MUC19 ENST00000454784:c.*1117A>G dist\x3d67430\x3bdist\x3d58387 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112864659 0.087 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0010 0 0 0 0 0.0017 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . 0.087 . . rs112864659 rs112864659 1 1538 10 1/0 0,151,255 +rs77697327 12 40881029 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881029 40881029 Chr12(GRCh37):g.40881029A>G *1681 *1681 ENST00000454784.4:c.*1681A>G p.? p.? 49 612170 -4102 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs77697327 no no 0 0.000000 0 0.003847 0.004364 0.003704 0.000000 0.009412 0.000000 0.003539 0.002250 0.003953 0.009412 70 21 2 0 8 0 32 5 2 18194 4812 540 222 850 0 9042 2222 506 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 21 2 0 8 0 32 5 2 0 0 0 0 0 0 0 0 0 RF 91 Genomes transition A G A>G 0.000 -1.489 179 PASS . . . . . . . . . . . . . UNKNOWN . . 0.11155379 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 502.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N4759D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.36 0.35 182 ENSG00000205592 . MUC19 ENST00000454784:c.*1681A>G dist\x3d67994\x3bdist\x3d57823 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77697327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0038 0.0037 0 0.0094 0.0023 0.0035 0.0040 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs77697327 rs77697327 1 1538 10 1/0 0,157,255 +rs78175342 12 40881072 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881072 40881072 Chr12(GRCh37):g.40881072A>G *1724 *1724 ENST00000454784.4:c.*1724A>G p.? p.? 49 612170 -4059 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs78175342 no no 0 0.000000 0 0.006103 0.005659 0.001845 0.008850 0.013126 0.000000 0.006161 0.004575 0.007663 0.013126 112 28 1 2 11 0 56 10 4 18352 4948 542 226 838 0 9090 2186 522 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 28 1 2 11 0 56 10 4 0 0 0 0 0 0 0 0 0 RF 88 Genomes transition A G A>G 0.000 -0.440 187 PASS . . . . . . . . . . . . . UNKNOWN . . 0.12683824 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 544.0 . . STOP_LOST(HIGH|MISSENSE|tAg/tGg|*4773W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.38 0.31 182 ENSG00000205592 . MUC19 ENST00000454784:c.*1724A>G dist\x3d68037\x3bdist\x3d57780 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs78175342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0057 0.0061 0.0018 0.0088 0.0131 0.0046 0.0062 0.0077 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs78175342 rs78175342 1 1538 10 1/0 0,155,255 +rs78593021 12 40881086 G T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881086 40881086 Chr12(GRCh37):g.40881086G>T *1738 *1738 ENST00000454784.4:c.*1738G>T p.? p.? 49 612170 -4045 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Acceptor Strongly Activated 40881094 2.00855 0.244052 III.51 0.719962 rs78593021 no no 0 0.000000 0 0.003068 0.002156 0.001520 0.004167 0.004926 0.000000 0.003848 0.001344 0.003916 0.004926 76 15 1 1 6 0 46 4 3 24770 6958 658 240 1218 0 11954 2976 766 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 15 1 1 6 0 46 4 3 0 0 0 0 0 0 0 0 0 RF 65 Genomes transversion G T G>T 0.000 -1.086 179 PASS . . . . . . . . . . . . . UNKNOWN . . 0.110074624 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 536.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G4778C|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.45 0.31 182 ENSG00000205592 . MUC19 ENST00000454784:c.*1738G>T dist\x3d68051\x3bdist\x3d57766 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs78593021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0031 0.0015 0.0042 0.0049 0.0013 0.0038 0.0039 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs78593021 rs78593021 1 1538 10 1/0 0,155,255 +rs375208541 12 40881128 C A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881128 40881128 Chr12(GRCh37):g.40881128C>A *1780 *1780 ENST00000454784.4:c.*1780C>A p.? p.? 49 612170 -4003 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs375208541 no no 0 0.000000 0 0.003877 0.003987 0.002092 0.004065 0.002427 0.000000 0.004445 0.001779 0.005282 0.004445 73 20 1 1 2 0 42 4 3 18828 5016 478 246 824 0 9448 2248 568 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 73 20 1 1 2 0 42 4 3 0 0 0 0 0 0 0 0 0 RF 86 Genomes transversion C A C>A 0.000 -2.297 183 PASS . . . . . . . . . . . . . UNKNOWN . . 0.116071425 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 560.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Aac|H4792N|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1780C>A dist\x3d68093\x3bdist\x3d57724 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs375208541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0039 0.0021 0.0041 0.0024 0.0018 0.0044 0.0053 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs375208541 rs375208541 1 1538 10 1/0 0,155,255 +. 12 40881287 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881287 40881287 Chr12(GRCh37):g.40881287A>G *1939 *1939 ENST00000454784.4:c.*1939A>G p.? p.? 49 612170 -3844 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.001923 0.002037 0.001401 0.000000 0.003682 0.000000 0.002202 0.000000 0.001199 0.003682 53 16 1 0 5 0 30 0 1 27556 7854 714 294 1358 0 13626 2876 834 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 16 1 0 5 0 30 0 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition A G A>G 0.000 -0.682 198 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15384616 . . @ 92 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 598.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I4845V|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1939A>G dist\x3d68252\x3bdist\x3d57565 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0019 0.0014 0 0.0037 0 0.0022 0.0012 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,154,251 +. 12 40881342 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881342 40881342 Chr12(GRCh37):g.40881342C>G *1994 *1994 ENST00000454784.4:c.*1994C>G p.? p.? 49 612170 -3789 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22636 6350 628 274 1130 0 11228 2372 654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 71 Genomes transversion C G C>G 0.000 -0.602 178 PASS . . . . . . . . . . . . . UNKNOWN . . 0.10928962 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 549.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S4863W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.3981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1994C>G dist\x3d68307\x3bdist\x3d57510 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,154,255 +. 12 40882444 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882444 40882444 Chr12(GRCh37):g.40882444G>A *3096 *3096 ENST00000454784.4:c.*3096G>A p.? p.? 49 612170 -2687 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 transition G A G>A 0.000 -1.005 191 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13725491 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 255.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R5230|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3096G>A dist\x3d69409\x3bdist\x3d56408 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,189,255 +rs879525667 12 40882447 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882447 40882447 Chr12(GRCh37):g.40882447T>C *3099 *3099 ENST00000454784.4:c.*3099T>C p.? p.? 49 612170 -2684 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40882449 0.001715 63.4988 3.09325 0.013508 67.6269 rs879525667 no no 0 T 0.000000 0 0.001659 0.000852 0.003788 0.000000 0.004115 0.000000 0.000792 0.007477 0.000000 0.007477 18 3 1 0 2 0 4 8 0 10850 3522 264 154 486 0 5050 1070 304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 3 1 0 2 0 4 8 0 0 0 0 0 0 0 0 0 0 RF 97 Genomes transition T C T>C 0.000 -3.023 204 PASS . . . . . . . . . . . . . UNKNOWN . . 0.16901408 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 213.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D5231|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3099T>C dist\x3d69412\x3bdist\x3d56405 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0017 0.0038 0 0.0041 0.0075 0.0008 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,199,255 +. 12 40882449 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882449 40882449 Chr12(GRCh37):g.40882449G>A *3101 *3101 ENST00000454784.4:c.*3101G>A p.? p.? 49 612170 -2682 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.001318 0.000659 0.003425 0.000000 0.003165 0.000000 0.000634 0.006079 0.000000 0.006079 18 3 1 0 2 0 4 8 0 13656 4552 292 180 632 0 6308 1316 376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 3 1 0 2 0 4 8 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transition G A G>A 0.000 -0.763 199 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15625 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 224.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R5232K|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3101G>A dist\x3d69414\x3bdist\x3d56403 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0013 0.0034 0 0.0032 0.0061 0.0006 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs55798248 12 40882457 C A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882457 40882457 Chr12(GRCh37):g.40882457C>A *3109 *3109 ENST00000454784.4:c.*3109C>A p.? p.? 49 612170 -2674 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs55798248 no no 0 C 0.000000 0 0.003372 0.001561 0.009615 0.000000 0.004587 0.000000 0.002462 0.012311 0.000000 0.012311 33 5 2 0 2 0 11 13 0 9786 3204 208 132 436 0 4468 1056 282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 5 2 0 2 0 11 13 0 0 0 0 0 0 0 0 0 0 RF 109 Genomes transversion C A C>A 0.000 -1.409 216 PASS . . . . . . . . . . . . . UNKNOWN . . 0.20220588 . . @ 55 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 272.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Atc|L5235I|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.24 0.27 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3109C>A dist\x3d69422\x3bdist\x3d56395 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55798248 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0034 0.0096 0 0.0046 0.0123 0.0025 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.022 . . rs55798248 rs55798248 1 1538 10 1/0 0,192,255 +. 12 40882466 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882466 40882466 Chr12(GRCh37):g.40882466G>A *3118 *3118 ENST00000454784.4:c.*3118G>A p.? p.? 49 612170 -2665 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 transition G A G>A 0.000 -0.924 220 PASS . . . . . . . . . . . . . UNKNOWN . . 0.21160409 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 293.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G5238S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3118G>A dist\x3d69431\x3bdist\x3d56386 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,189,253 +rs373068239 12 40882513 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882513 40882513 Chr12(GRCh37):g.40882513C>G *3165 *3165 ENST00000454784.4:c.*3165C>G p.? p.? 49 612170 -2618 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs373068239 no no 0 G 0.000000 0 0.001857 0.002443 0.003030 0.000000 0.001639 0.000000 0.001402 0.003012 0.000000 0.003030 24 9 1 0 1 0 9 4 0 12922 3684 330 162 610 0 6420 1328 388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 9 1 0 1 0 9 4 0 0 0 0 0 0 0 0 0 0 RF 93 Genomes transversion C G C>G 0.000 -4.556 254 PASS . . . . . . . . . . . . . UNKNOWN . . 0.31746033 . . @ 100 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 315.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgC/tgG|C5253W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.3187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.2 0.28 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3165C>G dist\x3d69478\x3bdist\x3d56339 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373068239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0019 0.0030 0 0.0016 0.0030 0.0014 0 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . rs71203639 rs71203639 rs373068239 1 1538 10 1/0 0,196,241 +rs796784726 12 40882528 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882528 40882528 Chr12(GRCh37):g.40882528C>T *3180 *3180 ENST00000454784.4:c.*3180C>T p.? p.? 49 612170 -2603 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Weakly Activated 40882526 63.7013 1.06116 0.282934 66.7844 0.002201 0.002044 0.007194 0.000000 0.003472 0.000000 0.001887 0.003509 0.000000 0.007194 27 7 2 0 2 0 12 4 0 12268 3424 278 172 576 0 6360 1140 318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 7 2 0 2 0 12 4 0 0 0 0 0 0 0 0 0 0 RF 103 Genomes transition C T C>T 0.000 -0.037 242 PASS . . . . . . . . . . . . . UNKNOWN . . 0.3280255 . . @ 103 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 314.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S5258|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3180C>T dist\x3d69493\x3bdist\x3d56324 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0022 0.0072 0 0.0035 0.0035 0.0019 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,243 +rs571760866 12 40882529 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882529 40882529 Chr12(GRCh37):g.40882529A>G *3181 *3181 ENST00000454784.4:c.*3181A>G p.? p.? 49 612170 -2602 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs571760866 yes no Frequency/1000G 2 G 0.000998 C 5 0.002775 0.002853 0.008065 0.000000 0.004292 0.000000 0.002189 0.004970 0.000000 0.008065 29 8 2 0 2 0 12 5 0 10450 2804 248 160 466 0 5482 1006 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 8 2 0 2 0 12 5 0 0 0 0 0 0 0 0 0 0 RF 122 Genomes transition A G A>G 0.000 -3.184 255 PASS . . . . . . . . . . . . . UNKNOWN . . 0.34201956 . . @ 105 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 307.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N5259D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0010 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3181A>G dist\x3d69494\x3bdist\x3d56323 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0028 0.0081 0 0.0043 0.0050 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,199,241 +. 12 40882556 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882556 40882556 Chr12(GRCh37):g.40882556A>G *3208 *3208 ENST00000454784.4:c.*3208A>G p.? p.? 49 612170 -2575 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.001801 0.002057 0.011811 0.000000 0.001689 0.000000 0.001318 0.003012 0.000000 0.011811 26 9 3 0 1 0 10 3 0 14434 4376 254 226 592 0 7590 996 400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 9 3 0 1 0 10 3 0 0 0 0 0 0 0 0 0 0 RF 101 Genomes transition A G A>G 0.000 0.044 154 PASS . . . . . . . . . . . . . UNKNOWN . . 0.29177058 . . @ 117 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 401.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|S5268G|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3208A>G dist\x3d69521\x3bdist\x3d56296 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0018 0.0118 0 0.0017 0.0030 0.0013 0 . . . . . . . . . . . 1.0E-154 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,193,244 +. 12 40882585 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882585 40882585 Chr12(GRCh37):g.40882585G>A *3237 *3237 ENST00000454784.4:c.*3237G>A p.? p.? 49 612170 -2546 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40882586 0.003669 65.5973 III.22 0.321503 74.5581 0.000362 0.000842 0.000000 0.000000 0.001359 0.000000 0.000118 0.000000 0.000000 0.001359 6 4 0 0 1 0 1 0 0 16560 4750 310 230 736 0 8458 1620 456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 4 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 92 Genomes transition G A G>A 0.000 -5.444 184 PASS . . . . . . . . . . . . . UNKNOWN . . 0.22463769 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 414.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W5277*|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.0747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3237G>A dist\x3d69550\x3bdist\x3d56267 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0004 0 0 0.0014 0 0.0001 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +. 12 40882586 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882586 40882586 Chr12(GRCh37):g.40882586G>A *3238 *3238 ENST00000454784.4:c.*3238G>A p.? p.? 49 612170 -2545 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000961 0.001326 0.000000 0.000000 0.001730 0.000000 0.001012 0.000000 0.000000 0.001730 13 5 0 0 1 0 7 0 0 13534 3770 256 196 578 0 6920 1416 398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 5 0 0 1 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 112 Genomes transition G A G>A 0.000 -0.682 184 PASS . . . . . . . . . . . . . UNKNOWN . . 0.22166246 . . @ 88 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 397.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G5278S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3238G>A dist\x3d69551\x3bdist\x3d56266 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0010 0 0 0.0017 0 0.0010 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,181,255 +. 12 40882597 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882597 40882597 Chr12(GRCh37):g.40882597C>T *3249 *3249 ENST00000454784.4:c.*3249C>T p.? p.? 49 612170 -2534 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000279 0.000456 0.000000 0.000000 0.000963 0.000000 0.000000 0.000929 0.000000 0.000963 6 3 0 0 1 0 0 2 0 21514 6582 494 254 1038 0 10354 2154 638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 1 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 72 Genomes transition C T C>T 0.000 0.125 208 PASS . . . . . . . . . . . . . UNKNOWN . . 0.19148937 . . @ 81 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 423.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D5281|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3249C>T dist\x3d69562\x3bdist\x3d56255 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0.0010 0.0009 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,173,255 +. 12 40882615 G T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882615 40882615 Chr12(GRCh37):g.40882615G>T *3267 *3267 ENST00000454784.4:c.*3267G>T p.? p.? 49 612170 -2516 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000049 0.000160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000160 1 1 0 0 0 0 0 0 0 20212 6246 444 248 938 0 9838 1920 578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 75 Genomes transversion G T G>T 0.000 -4.395 189 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14836796 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 337.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W5287C|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3267G>T dist\x3d69580\x3bdist\x3d56237 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 4.948e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,179,255 +. 12 40882617 G C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882617 40882617 Chr12(GRCh37):g.40882617G>C *3269 *3269 ENST00000454784.4:c.*3269G>C p.? p.? 49 612170 -2514 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000044 0.000143 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000143 1 1 0 0 0 0 0 0 0 22844 6972 540 254 1118 0 10936 2330 694 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 66 Genomes transversion G C G>C 0.000 -0.360 191 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13714285 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 350.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gCt|G5288A|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3269G>C dist\x3d69582\x3bdist\x3d56235 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.378e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,176,255 +. 12 40882623 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882623 40882623 Chr12(GRCh37):g.40882623G>A *3275 *3275 ENST00000454784.4:c.*3275G>A p.? p.? 49 612170 -2508 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23100 7006 544 256 1126 0 11074 2392 702 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 65 Genomes transition G A G>A 0.016 0.367 183 PASS . . . . . . . . . . . . . UNKNOWN . . 0.119186044 . . @ 41 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 344.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R5290K|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3275G>A dist\x3d69588\x3bdist\x3d56229 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +. 12 40882630 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882630 40882630 Chr12(GRCh37):g.40882630T>C *3282 *3282 ENST00000454784.4:c.*3282T>C p.? p.? 49 612170 -2501 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000212 0.000484 0.000000 0.000000 0.000000 0.000000 0.000140 0.000000 0.000000 0.000484 3 2 0 0 0 0 1 0 0 14122 4130 370 206 576 0 7126 1340 374 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 102 Genomes transition T C T>C 0.000 -1.893 192 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15679443 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 287.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N5292|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.8373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3282T>C dist\x3d69595\x3bdist\x3d56222 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0 0 0 0 0.0001 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,187,255 +. 12 40882634 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882634 40882634 Chr12(GRCh37):g.40882634A>G *3286 *3286 ENST00000454784.4:c.*3286A>G p.? p.? 49 612170 -2497 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000045 0.000147 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000147 1 1 0 0 0 0 0 0 0 22170 6792 508 256 1042 0 10652 2256 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 65 Genomes transition A G A>G 0.000 -0.198 186 PASS . . . . . . . . . . . . . UNKNOWN . . 0.1260997 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 341.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I5294V|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3286A>G dist\x3d69599\x3bdist\x3d56218 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.511e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,176,255 +. 12 40882635 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882635 40882635 Chr12(GRCh37):g.40882635T>C *3287 *3287 ENST00000454784.4:c.*3287T>C p.? p.? 49 612170 -2496 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000136 0.000462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000462 2 2 0 0 0 0 0 0 0 14708 4328 362 216 604 0 7348 1454 396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 96 Genomes transition T C T>C 0.000 -1.893 195 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14569536 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 302.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I5294T|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3287T>C dist\x3d69600\x3bdist\x3d56217 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs201318123 12 40882766 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882766 40882766 Chr12(GRCh37):g.40882766G>A *3418 *3418 ENST00000454784.4:c.*3418G>A p.? p.? 49 612170 -2365 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs201318123 no no 0 T 0.000000 0 0.000958 0.002590 0.001742 0.000000 0.000000 0.000000 0.000202 0.000000 0.000000 0.002590 20 17 1 0 0 0 2 0 0 20880 6564 574 232 1036 0 9902 1970 602 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 17 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition G A G>A 0.000 -5.363 204 PASS . . . . . . . . . . . . . UNKNOWN . . 0.16987179 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 312.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D5338N|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.3297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.36 0.33 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3418G>A dist\x3d69731\x3bdist\x3d56086 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201318123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0010 0.0017 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs201318123 rs201318123 1 1538 10 1/0 0,183,255 +. 12 40882856 G T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882856 40882856 Chr12(GRCh37):g.40882856G>T *3508 *3508 ENST00000454784.4:c.*3508G>T p.? p.? 49 612170 -2275 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.004121 0.003411 0.008333 0.000000 0.002722 0.000000 0.003731 0.008310 0.003226 0.008333 88 22 5 0 3 0 38 18 2 21356 6450 600 232 1102 0 10186 2166 620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 88 22 5 0 3 0 38 18 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion G T G>T 0.000 -1.732 194 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14385965 . . @ 41 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 285.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G5368C|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3508G>T dist\x3d69821\x3bdist\x3d55996 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0041 0.0083 0 0.0027 0.0083 0.0037 0.0032 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,185,255 +rs61916093 12 40883195 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883195 40883195 Chr12(GRCh37):g.40883195C>G *3847 *3847 ENST00000454784.4:c.*3847C>G p.? p.? 49 612170 -1936 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs61916093 no no 0 C 0.000000 0 0.001024 0.001569 0.000000 0.000000 0.005495 0.000000 0.000616 0.002538 0.000000 0.005495 8 3 0 0 1 0 3 1 0 7814 1912 106 174 182 0 4872 394 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 3 0 0 1 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 161 Genomes transversion C G C>G 0.000 -5.041 238 PASS . . . . . . . . . . . . . UNKNOWN . . 0.26490065 . . @ 80 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 302.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Gac|H5481D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.3418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.25 0.29 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3847C>G dist\x3d70160\x3bdist\x3d55657 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61916093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0010 0 0 0.0055 0.0025 0.0006 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs61916093 rs61916093 rs61916093 rs61916093 1 1538 10 1/0 0,193,244 +rs61916094 12 40883200 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883200 40883200 Chr12(GRCh37):g.40883200C>T *3852 *3852 ENST00000454784.4:c.*3852C>T p.? p.? 49 612170 -1931 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs61916094 yes no Frequency/1000G 2 T 0.000000 0 transition C T C>T 0.000 -0.117 134 PASS . . . . . . . . . . . . . UNKNOWN . . 0.18987341 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 316.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N5482|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0008 . . . 0.26 0.26 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3852C>T dist\x3d70165\x3bdist\x3d55652 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61916094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-134 . . . . . . . . . . . . rs61916094 rs61916094 rs61916094 rs61916094 1 1538 10 1/0 0,190,255 +rs61916095 12 40883205 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883205 40883205 Chr12(GRCh37):g.40883205C>T *3857 *3857 ENST00000454784.4:c.*3857C>T p.? p.? 49 612170 -1926 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs61916095 no no 0 C 0.000000 0 transition C T C>T 0.000 -1.328 215 PASS . . . . . . . . . . . . . UNKNOWN . . 0.1969697 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 330.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T5484I|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.27 0.31 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3857C>T dist\x3d70170\x3bdist\x3d55647 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61916095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs61916095 rs61916095 rs61916095 rs61916095 1 1538 10 1/0 0,183,254 +rs61916096 12 40883208 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883208 40883208 Chr12(GRCh37):g.40883208T>C *3860 *3860 ENST00000454784.4:c.*3860T>C p.? p.? 49 612170 -1923 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs61916096 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.117 215 PASS . . . . . . . . . . . . . UNKNOWN . . 0.19879518 . . @ 66 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 332.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I5485T|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.29 0.35 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3860T>C dist\x3d70173\x3bdist\x3d55644 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61916096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs61916096 rs61916096 rs61916096 rs61916096 1 1538 10 1/0 0,183,255 +. 12 40883416 A T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883416 40883416 Chr12(GRCh37):g.40883416A>T *4068 *4068 ENST00000454784.4:c.*4068A>T p.? p.? 49 612170 -1715 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.003261 0.002115 0.008621 0.000000 0.005988 0.000000 0.003136 0.003145 0.011013 0.008621 51 10 3 0 4 0 24 5 5 15638 4728 348 196 668 0 7654 1590 454 0.019608 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.200000 0.000000 1 0 0 0 0 0 0 1 0 49 10 3 0 4 0 24 3 5 0 0 0 0 0 0 0 0 0 RF 69 Genomes transversion A T A>T 0.000 -3.104 217 PASS . . . . . . . . . . . . . UNKNOWN . . 0.20462047 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 303.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acT|T5554|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4068A>T dist\x3d70381\x3bdist\x3d55436 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0033 0.0086 0 0.0060 0.0031 0.0031 0.0110 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,189,255 +rs568304736 12 40883425 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883425 40883425 Chr12(GRCh37):g.40883425C>G *4077 *4077 ENST00000454784.4:c.*4077C>G p.? p.? 49 612170 -1706 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.001464 0.001346 0.004831 0.000000 0.001319 0.000000 0.001222 0.001667 0.004000 0.004831 25 7 2 0 1 0 10 3 2 17074 5200 414 218 758 0 8184 1800 500 0.040000 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 23 5 2 0 1 0 10 3 2 0 0 0 0 0 0 0 0 0 RF 60 Genomes transversion C G C>G 0.000 -3.104 199 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15636364 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 275.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgC/tgG|C5557W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.0619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0004 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4077C>G dist\x3d70390\x3bdist\x3d55427 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0015 0.0048 0 0.0013 0.0017 0.0012 0.004 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,188,255 +rs536727047 12 40883605 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883605 40883605 Chr12(GRCh37):g.40883605G>A *4257 *4257 ENST00000454784.4:c.*4257G>A p.? p.? 49 612170 -1526 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40883606 0.003669 65.5973 III.22 0.321503 74.5581 rs536727047 yes no Frequency/1000G 2 T 0.000000 0 0.037740 0.014400 0.112500 0.020800 0.031800 0.010100 transition G A G>A 0.000 -1.570 176 PASS . . . . . 0.014 0.038 0.01 0.021 0.032 0.11 . . UNKNOWN . . 0.105421685 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 0 . . . 332.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W5617*|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0377 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4257G>A dist\x3d70570\x3bdist\x3d55247 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs536727047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +rs80096670 12 40883606 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883606 40883606 Chr12(GRCh37):g.40883606G>A *4258 *4258 ENST00000454784.4:c.*4258G>A p.? p.? 49 612170 -1525 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs80096670 yes no Frequency/1000G 2 G 0.000000 0 0.037740 0.014400 0.112500 0.020800 0.031800 0.010100 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000162 0.000000 0.000000 0.000162 1 0 0 0 0 0 1 0 0 13902 5074 342 164 736 0 6184 1038 364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 83 Genomes transition G A G>A 0.000 -1.893 186 PASS . . . . . 0.014 0.038 0.01 0.021 0.032 0.11 . . UNKNOWN . . 0.14067279 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 327.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G5618S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0377 . . . 0.32 0.33 182 ENSG00000205592 . MUC19 ENST00000454784:c.*4258G>A dist\x3d70571\x3bdist\x3d55246 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs80096670 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.193e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.011 . . rs80096670 rs80096670 1 1538 10 1/0 0,179,255 +rs565283264 12 40883619 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883619 40883619 Chr12(GRCh37):g.40883619A>G *4271 *4271 ENST00000454784.4:c.*4271A>G p.? p.? 49 612170 -1512 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs565283264 yes no Frequency/1000G 2 A 0.000000 0 0.082268 0.044600 0.189200 0.053600 0.084500 0.041800 transition A G A>G 0.000 0.367 201 PASS . . . . . 0.045 0.082 0.042 0.054 0.085 0.19 . . UNKNOWN . . 0.16081871 . . @ 55 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 342.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N5622S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0823 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4271A>G dist\x3d70584\x3bdist\x3d55233 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs565283264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,178,255 +rs577573520 12 40883620 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883620 40883620 Chr12(GRCh37):g.40883620T>C *4272 *4272 ENST00000454784.4:c.*4272T>C p.? p.? 49 612170 -1511 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs577573520 yes no Frequency/1000G 2 A 0.082268 C 412 0.082268 0.044600 0.189200 0.053600 0.084500 0.041800 0.001182 0.001433 0.000000 0.000000 0.000000 0.000000 0.001168 0.000000 0.006667 0.001433 12 5 0 0 0 0 5 0 2 10152 3490 408 110 616 0 4282 946 300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 0 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 RF 117 Genomes transition T C T>C 0.000 0.205 199 PASS . . . . . 0.045 0.082 0.042 0.054 0.085 0.19 . . UNKNOWN . . 0.18789808 . . @ 59 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 314.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N5622|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0823 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4272T>C dist\x3d70585\x3bdist\x3d55232 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs577573520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0012 0 0 0 0 0.0012 0.0067 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,185,254 +. 12 40883625 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883625 40883625 Chr12(GRCh37):g.40883625T>C *4277 *4277 ENST00000454784.4:c.*4277T>C p.? p.? 49 612170 -1506 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs1009575443 no no 0 T 0.000000 0 0.000085 0.000000 0.000000 0.000000 0.000000 0.000000 0.000205 0.000000 0.000000 0.000205 1 0 0 0 0 0 1 0 0 11740 4302 428 118 710 0 4878 968 336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 104 Genomes transition T C T>C 0.000 -0.117 208 PASS . . . . . . . . . . . . . UNKNOWN . . 0.19498608 . . @ 70 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 359.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I5624T|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4277T>C dist\x3d70590\x3bdist\x3d55227 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.518e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,179,248 +rs367665459 12 40883629 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883629 40883629 Chr12(GRCh37):g.40883629C>T *4281 *4281 ENST00000454784.4:c.*4281C>T p.? p.? 49 612170 -1502 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs367665459 no no 0 T 0.000000 0 0.000130 0.000347 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000347 2 2 0 0 0 0 0 0 0 15432 5764 492 138 876 0 6546 1158 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 81 Genomes transition C T C>T 0.000 1.335 208 PASS . . . . . . . . . . . . . UNKNOWN . . 0.17783505 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 388.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I5625|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4281C>T dist\x3d70594\x3bdist\x3d55223 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367665459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs367665459 rs367665459 1 1538 10 1/0 0,174,249 +. 12 40884088 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884088 40884088 Chr12(GRCh37):g.40884088C>T *4740 *4740 ENST00000454784.4:c.*4740C>T p.? p.? 49 612170 -1043 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Weakly Activated 40884086 63.7013 1.06116 0.282934 66.7844 0.000377 0.000464 0.006667 0.000000 0.000000 0.000000 0.000171 0.000000 0.000000 0.006667 9 3 4 0 0 0 2 0 0 23868 6468 600 248 1226 0 11714 2874 738 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 3 4 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 58 Genomes transition C T C>T 0.000 -1.328 161 PASS . . . . . . . . . . . . . UNKNOWN . . 0.108597286 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 442.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S5778|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4740C>T dist\x3d71053\x3bdist\x3d54764 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0004 0.0067 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-161 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +. 12 40884089 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884089 40884089 Chr12(GRCh37):g.40884089A>G *4741 *4741 ENST00000454784.4:c.*4741A>G p.? p.? 49 612170 -1042 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000357 0.000433 0.006349 0.000000 0.000000 0.000000 0.000163 0.000000 0.000000 0.006349 9 3 4 0 0 0 2 0 0 25190 6930 630 256 1286 0 12244 3068 776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 3 4 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 55 Genomes transition A G A>G 0.000 -1.651 181 PASS . . . . . . . . . . . . . UNKNOWN . . 0.11529934 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 451.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N5779D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.8862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4741A>G dist\x3d71054\x3bdist\x3d54763 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0063 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,162,255 +. 12 40884116 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884116 40884116 Chr12(GRCh37):g.40884116A>G *4768 *4768 ENST00000454784.4:c.*4768A>G p.? p.? 49 612170 -1015 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000380 0.000370 0.009777 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 0.009777 11 3 7 0 0 0 1 0 0 28956 8098 716 286 1520 0 14074 3368 894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 3 7 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition A G A>G 0.000 0.205 181 PASS . . . . . . . . . . . . . UNKNOWN . . 0.11463415 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 410.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|S5788G|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4768A>G dist\x3d71081\x3bdist\x3d54736 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0098 0 0 0 7.105e-05 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,167,255 +. 12 40884121 C A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884121 40884121 Chr12(GRCh37):g.40884121C>A *4773 *4773 ENST00000454784.4:c.*4773C>A p.? p.? 49 612170 -1010 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs1051871280 yes no Frequency 1 C 0.000000 0 0.001084 0.000232 0.000000 0.007194 0.000000 0.000000 0.001587 0.001170 0.002183 0.007194 32 2 0 2 0 0 22 4 2 29516 8624 796 278 1620 0 13864 3418 916 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 2 0 2 0 0 22 4 2 0 0 0 0 0 0 0 0 0 RF 49 Genomes transversion C A C>A 0.000 -0.117 228 PASS . . . . . . . . . . . . . UNKNOWN . . 0.23627685 . . @ 99 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 419.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D5789E|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.3369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4773C>A dist\x3d71086\x3bdist\x3d54731 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0011 0 0.0072 0 0.0012 0.0016 0.0022 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,253 +. 12 40884136 T A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884136 40884136 Chr12(GRCh37):g.40884136T>A *4788 *4788 ENST00000454784.4:c.*4788T>A p.? p.? 49 612170 -995 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000501 0.000000 0.000000 0.003676 0.000000 0.000000 0.000773 0.000288 0.002123 0.003676 15 0 0 1 0 0 11 1 2 29938 8586 820 272 1610 0 14232 3476 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 1 0 0 11 1 2 0 0 0 0 0 0 0 0 0 RF 50 Genomes transversion T A T>A 0.000 -0.602 172 PASS . . . . . . . . . . . . . UNKNOWN . . 0.17150396 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 379.0 . . SYNONYMOUS_CODING(LOW|SILENT|acT/acA|T5794|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4788T>A dist\x3d71101\x3bdist\x3d54716 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0.0037 0 0.0003 0.0008 0.0021 . . . . . . . . . . . 1.0E-172 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,255 +. 12 40884137 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884137 40884137 Chr12(GRCh37):g.40884137A>G *4789 *4789 ENST00000454784.4:c.*4789A>G p.? p.? 49 612170 -994 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000488 0.000000 0.000000 0.003333 0.000000 0.000000 0.000741 0.000288 0.002045 0.003333 15 0 0 1 0 0 11 1 2 30750 8698 832 300 1618 0 14850 3474 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 1 0 0 11 1 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition A G A>G 0.000 0.044 206 PASS . . . . . . . . . . . . . UNKNOWN . . 0.17487685 . . @ 71 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 406.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I5795V|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4789A>G dist\x3d71102\x3bdist\x3d54715 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0.0033 0 0.0003 0.0007 0.0020 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,173,255 +. 12 40884296 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884296 40884296 Chr12(GRCh37):g.40884296A>G *4948 *4948 ENST00000454784.4:c.*4948A>G p.? p.? 49 612170 -835 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Acceptor Strongly Activated 40884304 0.020887 3.72085 0.044338 76.5404 0.005240 0.003450 0.011538 0.000000 0.004438 0.000000 0.007601 0.000000 0.002809 0.011538 69 17 3 0 3 0 45 0 1 13168 4928 260 156 676 0 5920 872 356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 17 3 0 3 0 45 0 1 0 0 0 0 0 0 0 0 0 RF 111 Genomes transition A G A>G 0.000 1.255 188 PASS . . . . . . . . . . . . . UNKNOWN . . 0.12987013 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 462.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|S5848G|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.1186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4948A>G dist\x3d71261\x3bdist\x3d54556 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0052 0.0115 0 0.0044 0 0.0076 0.0028 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +rs200694240 12 40884757 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884757 40884757 Chr12(GRCh37):g.40884757C>G *5409 *5409 ENST00000454784.4:c.*5409C>G p.? p.? 49 612170 -374 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs200694240 no no 0 C 0.000000 0 0.000386 0.000290 0.000000 0.000000 0.000000 0.000000 0.000556 0.000360 0.000000 0.000556 9 2 0 0 0 0 6 1 0 23288 6902 602 220 1272 0 10786 2776 730 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 64 Genomes transversion C G C>G 0.000 -0.360 207 PASS . . . . . . . . . . . . . UNKNOWN . . 0.17634855 . . @ 85 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 482.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N6001K|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.37 0.32 182 ENSG00000205592 . MUC19 ENST00000454784:c.*5409C>G dist\x3d71722\x3bdist\x3d54095 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200694240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0004 0 0 0 0.0004 0.0006 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs200694240 rs200694240 1 1538 10 1/0 0,165,255 +rs78354426 12 40884758 A T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884758 40884758 Chr12(GRCh37):g.40884758A>T *5410 *5410 ENST00000454784.4:c.*5410A>T p.? p.? 49 612170 -373 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs78354426 no no 0 A 0.000000 0 0.000572 0.000687 0.000000 0.000000 0.000000 0.000000 0.000703 0.000399 0.000000 0.000703 11 4 0 0 0 0 6 1 0 19242 5820 542 202 1012 0 8530 2506 630 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 4 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transversion A T A>T 0.000 -1.328 225 PASS . . . . . . . . . . . . . UNKNOWN . . 0.22633745 . . @ 110 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 486.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R6002W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.42 0.38 182 ENSG00000205592 . MUC19 ENST00000454784:c.*5410A>T dist\x3d71723\x3bdist\x3d54094 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78354426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0006 0 0 0 0.0004 0.0007 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . rs71449771 rs71449771 rs71449771 1 1538 10 1/0 0,169,241 +rs73112033 12 40907176 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution intron GRCh37 40907176 40907176 Chr12(GRCh37):g.40907176T>C *5782+22046 *5782+22046 ENST00000454784.4:c.*5782+22046T>C p.? p.? 49 49 612170 22046 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs73112033 yes no Frequency/1000G 2 T 0.000000 0 0.007489 0.014835 0.000000 0.000000 0.032967 0.000000 0.004112 0.031250 0.006579 0.032967 63 27 0 0 6 0 24 5 1 8412 1820 58 204 182 0 5836 160 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 27 0 0 6 0 24 5 1 0 0 0 0 0 0 0 0 0 RF 235 Genomes transition T C T>C 0.008 0.690 205 PASS . . . . . . . . . . . . . . . . 0.17307693 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||MUC19|mRNA|CODING|NM_173600|) . . . . . . . -0.1039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.37 0.29 182 ENSG00000205592 . MUC19 . dist\x3d94141\x3bdist\x3d31676 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73112033 0.098 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0148 0.0075 0 0 0.0330 0.0312 0.0041 0.0066 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . 0.098 . rs73112033 rs73112033 rs73112033 1 1538 10 1/0 0,231,255 +. 12 40907227 CCAGTTACTACTGGCCT C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 deletion intron GRCh37 40907228 40907243 Chr12(GRCh37):g.40907228_40907243del *5782+22098 *5782+22113 ENST00000454784.4:c.*5782+22098_*5782+22113del p.? p.? 49 49 612170 22098 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 CAGTTACTACTGGCCT 255 Pass . . . . . . . . . . . . . . . . 0.12371134 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 97 . . INTRON(MODIFIER||||MUC19|mRNA|CODING|NM_173600|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000205592 . MUC19 . dist\x3d94193\x3bdist\x3d31609 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,91 +. 12 40907245 T TAAA - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 insertion intron GRCh37 40907245 40907246 Chr12(GRCh37):g.40907245_40907246insAAA *5782+22115 *5782+22116 ENST00000454784.4:c.*5782+22115_*5782+22116insAAA p.? p.? 49 49 612170 22115 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 New Acceptor Site 40907247 4.1016 0.026923 70.8659 AAA 255 Pass . . . . . . . . . . . . . . . . 0.115384616 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 104 . . INTRON(MODIFIER||||MUC19|mRNA|CODING|NM_173600|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000205592 . MUC19 . dist\x3d94210\x3bdist\x3d31607 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,94 +. 12 42538281 G T - GXYLT1 27482 Glucoside xylosyltransferase 1 NM_173601.1 -1 7489 1323 NP_775872.1 Q4G148 substitution synonymous exon GRCh37 42538281 42538281 Chr12(GRCh37):g.42538281G>T 168 168 NM_173601.1:c.168C>A p.Ala56= p.Ala56Ala 1 613321 -54 5' 84.1959 X.66 0.961488 15.559 84.1959 X.66 0.961488 15.4093 0 rs991337229 no no 0 G 0.000000 0 COSM5764772 Large intestine 0.000450 2220 transversion C A C>A 0.323 -0.198 A Ala GCC 0.403 A Ala GCA 0.226 56 255 PASS . . . . . . . . . . . . . . . . 0.47619048 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . I.34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000151233 GXYLT1 GXYLT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 42538284 G A - GXYLT1 27482 Glucoside xylosyltransferase 1 NM_173601.1 -1 7489 1323 NP_775872.1 Q4G148 substitution synonymous exon GRCh37 42538284 42538284 Chr12(GRCh37):g.42538284G>A 165 165 NM_173601.1:c.165C>T p.Gly55= p.Gly55Gly 1 613321 -57 5' 84.1959 X.66 0.961488 15.559 84.1959 X.66 0.961488 15.1939 0 rs915847272 no no 0 G 0.000000 0 COSM5764748 Large intestine 0.000450 2220 transition C T C>T 0.850 -0.037 G Gly GGC 0.342 G Gly GGT 0.162 55 255 PASS . . . . . . . . . . . . . . . . 0.47619048 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . I.91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000151233 GXYLT1 GXYLT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 42538293 G T - GXYLT1 27482 Glucoside xylosyltransferase 1 NM_173601.1 -1 7489 1323 NP_775872.1 Q4G148 substitution synonymous exon GRCh37 42538293 42538293 Chr12(GRCh37):g.42538293G>T 156 156 NM_173601.1:c.156C>A p.Gly52= p.Gly52Gly 1 613321 -66 5' 84.1959 X.66 0.961488 15.559 84.1959 X.66 0.961488 15.1427 0 rs949684661 no no 0 G 0.000000 0 COSM5764824 Large intestine 0.000450 2220 transversion C A C>A 0.929 0.609 G Gly GGC 0.342 G Gly GGA 0.246 52 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . I.52 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000151233 GXYLT1 GXYLT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 42538294 C G - GXYLT1 27482 Glucoside xylosyltransferase 1 NM_173601.1 -1 7489 1323 NP_775872.1 Q4G148 substitution missense exon GRCh37 42538294 42538294 Chr12(GRCh37):g.42538294C>G 155 155 NM_173601.1:c.155G>C p.Gly52Ala p.Gly52Ala 1 613321 -67 5' 84.1959 X.66 0.961488 15.559 84.1959 X.66 0.961488 15.704 0 rs981140797 no no 0 C 0.000000 0 COSM5764750 Large intestine 0.000450 2220 transversion G C G>C 0.850 0.609 G Gly GGC 0.342 A Ala GCC 0.403 52 0 0 0 0.74 0 9 8.I 3 31 60 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.235 . @ . . . . . 1 0.245 . . 22.0 . . . . . . . . . . -0.6459 -0.531 -0.646 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.246 @ . . . . . . ENSG00000151233 GXYLT1 GXYLT1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.810 0.128 . . 37 . 0.367 . . 0.290 . . . 0.130 0.341 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.212 . . 0 0 0 0 0 0 . 0.186 . . 0.162 . . . . . . 0 0.167 . . . . . 0.180 . 0.359 . HET 0.02 . . . . . . . . . . . . . V.61 . . III.84 I.89 . 0.560000 . . . . . . 0.221 . . . . . . . . . . . . . . . . . . . . . . 0.040 . 0.246 0.246000 . . 0.560000 . . 1.0E-255 0.344 0.255 . 0.417 0.617 . 0.209 . 0.292 0.246 0.772 . . . . . 1 1538 10 1/0 0,255,255 +. 12 44200087 AGCCAGCGGCCCCG A - TWF1 9620 Twinfilin actin binding protein 1 NM_001242397.1 -1 3066 1074 NP_001229326.1 deletion 5'UTR GRCh37 44200088 44200100 Chr12(GRCh37):g.44200088_44200100del -52 -40 NM_001242397.1:c.-52_-40del p.? p.? 1 610932 -65 5' 81.6684 8.92197 0.917887 12.1585 81.6684 8.92197 0.917887 XII.99 0 rs528164053 yes no Frequency/1000G 2 0.000000 0 0.002596 0.003000 0.008200 0.000000 0.001000 0.000000 0.004862 0.001616 0.003482 0.001585 0.000000 0.003478 0.008280 0.002326 0.005875 0.008280 578 16 61 11 0 63 380 27 20 118888 9900 17520 6942 5506 18112 45894 11610 3404 0.000067 0.000000 0.000000 0.000000 0.000000 0.000000 0.000174 0.000000 0.000000 4 0 0 0 0 0 4 0 0 570 16 61 11 0 63 372 27 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5051 2249 7300 21 5 26 0.00414038 0.00221828 0.003549 0.00414038 0.00221828 0.003549 2 CGGGGCCGCTGGC 255 Pass . . . . . 0.003 0.0026 . . 0.001 0.0082 ENSG00000151239:ENST00000325127:exon1:c.51_63del:p.A17fs . . . . 0.32608697 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 46 . . . 0.0022 0.0037 0.0044 0.0022 0.0035 0.0041 . . . . . . . . . . 1.631e-03 . . . 0.0029 0.0042 0 0 0 0.0046 0.0088 0.0041 0.0032 0.0041 0 0 0 0.0050 0 0.0041 frameshift_deletion . . . . . exonic UTR5 UTR5 . . . . . . . . . . ENSG00000151239 TWF1 TWF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs528164053 . . . . . . . . . . . . . . . . . . . . . . . 0.003726 . . . . . 0.0016 0.0044 0.0034 0.0015 0 0.0024 0.0072 0.0062 0.0035 0.0016 0.0062 0.0061 0.0033 0 0.0021 0.0106 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0044 . . . . 1 1538 10 1.I 0,11,49 +rs146010731 12 49360194 A G - WNT10B 12775 Wingless-type MMTV integration site family, member 10B NM_003394.3 -1 2369 1170 NP_003385.2 O00744 substitution missense exon GRCh37 49360194 49360194 Chr12(GRCh37):g.49360194A>G 854 854 NM_003394.3:c.854T>C p.Ile285Thr p.Ile285Thr 5 601906 143 3' 76.1534 X.31 0.813476 11.0724 76.1534 X.31 0.813476 11.0724 0 Wnt rs146010731 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000626 0.000084 0.000378 0.000099 0.000106 0.001170 0.000881 0.000194 0.000465 0.001170 173 2 13 1 2 36 111 5 3 276324 23868 34414 10128 18844 30778 126052 25790 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 173 2 13 1 2 36 111 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 45 COSM5557102 Prostate 0.000549 1822 transition T C T>C 0.984 1.900 I Ile ATT 0.356 T Thr ACT 0.243 285 12 10 Zebrafish -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 234.99 43.70 Deleterious 0.01 III.58 bad 2.077E-3 0.001272 255 PASS . . . . . . 0.0004 0.0014 . 0.001 . ENSG00000169884:ENST00000301061:exon5:c.T854C:p.I285T WNT10B:uc001rss.3:exon5:c.T854C:p.I285T WNT10B:NM_003394:exon5:c.T854C:p.I285T . . 0.38513514 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.533 . @ . . . . . 1 0.825 . . 148.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I285T|WNT10B|mRNA|CODING|NM_003394|NM_003394.ex.5) . 0.0003 0.0005 . 0.0003 0.0005 . 0.5312 0.523 0.531 c . . . . . 7.498e-04 . . . 0 0.0009 0.0005 0 0.0003 0.0012 0 0.0013 0 0.0007 0.0005 0 0.0002 0.0008 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.773 . . exonic exonic exonic . . 0.528 0.0004 . . . 0.33 0.57 182 ENSG00000169884 WNT10B WNT10B . . . 1.000 0.448 . 24 0.000369367 64976 22 0.000366752 59986 Uncertain_significance . 0 . 0.537 . . . . D 0.853 0.177 . . 37 . 0.780 . . 0.801 . . . 0.755 0.810 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.456 . . 0.487 . . . . . . 0 0.721 . . . . . 0.287 . 0.538 . HET 0 rs146010731 . . . . . . . . . . . . 7.902 0.0 ENST00000301061 IV.43 IV.43 . 0.000000 O00744 . . Name\x3dnsv832404 0.000308 . 0.829 . . IV.43 6.6e-05 0.0007 0.0004 0.0001 0.0001 0.0001 0.0009 0.0005 0.0012 0.0001 0.0004 0 0 0 0.0006 0.0006 0 . . 0.417 . 2.010 2.010000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.750 0.914 . 0.711 . 0.916 2.010 1.062 0.0005 . . rs146010731 rs146010731 1 1538 10 1/0 0,235,255 +rs369975461 12 49392099 G A - DDN 24458 Dendrin NM_015086.1 -1 3744 2136 NP_055901.2 O94850 substitution missense exon GRCh37 49392099 49392099 Chr12(GRCh37):g.49392099G>A 560 560 NM_015086.1:c.560C>T p.Ser187Leu p.Ser187Leu 2 610588 351 3' 83.2118 8.01033 0.955239 9.01048 83.2118 8.01033 0.955239 9.01048 0 rs369975461 yes no Frequency 1 G 0.000000 0 0.000528 0.000111 0.000000 0.000251 0.000000 0.000000 0.001036 0.000594 0.000196 0.001036 108 2 0 2 0 0 93 10 1 204518 17992 26414 7966 14476 25996 89732 16844 5098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 2 0 2 0 0 93 10 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6238 2816 9054 2 0 2 0.000320513 0 0.000220848 0.000320513 0 0.000220848 5 transition C T C>T 1.000 1.255 S Ser TCG 0.056 L Leu TTG 0.127 187 12 5 Olive baboon -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 123.92 30.92 Deleterious 0.05 IV.32 good 2.478E-1 0.0499 255 PASS . . . . . . . . . . . ENSG00000181418:ENST00000421952:exon2:c.C560T:p.S187L DDN:uc001rsv.1:exon2:c.C560T:p.S187L DDN:NM_015086:exon2:c.C560T:p.S187L . . 0.42372882 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.537 . @ . . . . . 1 0.590 . . 59.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . -0.6347 -0.552 -0.635 c . . . . . 4.385e-04 . . . 0.0004 0.0005 0 0 0.0018 0.0011 0 0 0.0004 0.0009 0 0 0.0013 0.0016 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . 0.284 @ . . . 0.58 0.53 182 ENSG00000181418 DDN DDN . . . 1.000 0.747 . 20 0.000307806 64976 20 0.000333411 59986 Uncertain_significance . 0 . 0.196 . . . . D 0.628 0.047 . . 37 . 0.187 . . 0.139 . . . 0.170 0.224 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.516 . . 0 0 0 0 0 0 . 0.297 . . 0.195 . . . . . . 3 0.416 . . . . . 0.272 . 0.356 . HET 0.18 rs369975461 . . . . . . . . . . . . VII.74 0.0 ENST00000421952 3.III II.39 . 0.350000 O94850 . . . 0.000221 . 0.133 . . II.39 0.0001 0.0005 0 0.0003 0 0.0007 0.0010 0 0 0.0001 0.0007 0 0 0 0.0003 0.0013 0.0010 . . 0.552 . 0.952 0.952000 . . 0.350000 . . 1.0E-255 0.011 0.184 . 0.498 0.941 . 0.387 . 0.200 0.952 -0.186 0.0003 . . rs369975461 rs369975461 1 1538 10 1/0 0,255,255 +rs774600578 12 49444903 G A - KMT2D 7133 Lysine (K)-specific methyltransferase 2D NM_003482.3 -1 19419 16614 NP_003473.3 O14686 substitution missense exon GRCh37 49444903 49444903 Chr12(GRCh37):g.49444903G>A 2563 2563 NM_003482.3:c.2563C>T p.Leu855Phe p.Leu855Phe 10 602113 -235 5' 94.9812 11.083 0.997797 4.0404 94.9812 11.083 0.997797 4.0404 0 transition C T C>T 0.213 0.932 L Leu CTT 0.129 F Phe TTT 0.454 855 14 4 Macaque 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.2 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000167548:ENST00000301067:exon10:c.C2563T:p.L855F KMT2D:uc001rta.4:exon10:c.C2563T:p.L855F KMT2D:NM_003482:exon10:c.C2563T:p.L855F . . 0.51744187 . . @ 89 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.116 . . 172.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L855F|KMT2D|mRNA|CODING|NM_003482|NM_003482.ex.10) . . . . . . . -0.7180 -0.673 -0.718 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . 0.369 @ . . . . . . ENSG00000167548 KMT2D KMT2D . . . 0.998 0.365 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.880 0.224 . . 37 . 0.194 . . 0.079 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.181 . . 0 0 0 0 0 0 . 0.167 . . 0.158 . . . . . . 0 0.212 . . . . . 0.218 . 0.058 . HET . . . . . . . . . . . . . . VI.75 . ENST00000301067 III.31 III.31 . 0.000000 O14686 . . . . . 0.224 . . III.31 . . . . . . . . . . . . . . . . . . . 0.830 . 2.157 2.157000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.231 0.001 . 0.122 . 0.316 2.157 -0.287 . . . . . 1 1538 10 1/0 0,233,243 +. 12 49621797 G C - TUBA1C 20768 Tubulin, alpha 1c NM_001303114.1 1 1699 1560 NP_001290043.1 substitution missense exon GRCh37 49621797 49621797 Chr12(GRCh37):g.49621797G>C 61 61 NM_001303114.1:c.61G>C p.Glu21Gln p.Glu21Gln 1 -153 5' 94.6745 X.23 0.99825 4.78179 94.6745 X.23 0.99825 4.78179 0 Cryptic Acceptor Strongly Activated 49621804 6.44962 0.022936 62.1955 7.17691 0.108093 65.9386 rs936351588 no no 0 G 0.000000 0 0.000058 0.000000 0.000000 0.000000 0.000174 0.000000 0.000100 0.000114 0.000000 0.000174 9 0 0 0 2 0 6 1 0 154462 14562 24462 8164 11468 22444 60094 8798 4470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 0 2 0 6 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.488 0.528 E Glu GAA 0.417 Q Gln CAA 0.256 21 12 2 Dog 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . TUBA1C:uc010smh.1:exon1:c.G61C:p.E21Q TUBA1C:NM_001303114:exon1:c.G61C:p.E21Q . . 0.40350878 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.125 . @ . . . . . 1 0.378 . . 57.0 . . . . . . . . . . -0.5391 -0.474 -0.539 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.767 . . exonic exonic exonic . . 0.257 @ . . . . . . ENSG00000167553 TUBA1C TUBA1C . . . 0.998 0.367 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.571 0.036 . . 37 . 0.641 . . 0.622 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.073 . . 0 0 0 0 0 0 . 0.102 . . 0.188 . . . . . . 0 0.225 . . . . . 0.117 . 0.166 . HET . . . . . . . . . . . . . . IV.88 . ENST00000541364 III.96 2.IV . 0.080000 F5H5D3 . . . . . 0.305 . . 2.IV 0 5.669e-05 0 0 0.0002 0 0.0001 0 0 0 6.455e-05 0 0 0 0.0003 6.661e-05 0 . . 0.059 . 0.585 0.585000 . . 0.080000 . . 1.0E-255 0.968 0.339 . 0.394 0.043 . 0.272 . 0.181 0.585 0.630 . . . . . 1 1538 10 1/0 0,255,255 +rs117109315 12 50385930 A C - RACGAP1 9804 Rac GTPase activating protein 1 NM_001320006.1 -1 3239 1935 NP_001306935.1 substitution intron GRCh37 50385930 50385930 Chr12(GRCh37):g.50385930A>C 1615-14 1615-14 NM_001320006.1:c.1615-14T>G p.? p.? 16 15 604980 -14 3' 81.8139 7.11404 0.874586 3.92245 76.6313 7.36932 0.720293 3.40705 -0.0679599 rs117109315 yes no Frequency/1000G 2 A 0.000000 0 0.003994 0.000800 0.000000 0.000000 0.013900 0.007200 0.007897 0.001959 0.003619 0.009925 0.000106 0.003815 0.011741 0.009750 0.008854 0.011741 2180 47 123 100 2 117 1483 251 57 276044 23996 33984 10076 18834 30666 126306 25744 6438 0.000087 0.000000 0.000000 0.000000 0.000000 0.000196 0.000127 0.000078 0.000000 12 0 0 0 0 3 8 1 0 2156 47 123 100 2 111 1467 249 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8492 4395 12887 108 11 119 0.0125581 0.0024966 0.00914962 0.0125581 0.0024966 0.00914962 92 transversion T G T>G 0.024 0.044 255 PASS 0.002 0.01 0.01 . 0.02 0.0008 0.004 0.0072 . 0.014 . . . . . . 0.6304348 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . 0.0025 0.0092 0.013 0.0025 0.0091 0.013 . 0.6723 . . . . . . . . 7.941e-03 . . . 0.0027 0.0070 0.0029 0 0.0103 0.0110 0.0084 0.0040 0.0028 0.0077 0.0029 0 0.0098 0.0115 0.0072 0.0040 . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.47 0.13 182 ENSG00000161800 RACGAP1 RACGAP1 . . . . . . 708 0.0108963 64976 689 0.011486 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117109315 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.009150 . . . . . 0.0020 0.0080 0.0034 0.0102 0.0001 0.0093 0.0119 0.0093 0.0038 0.0018 0.0074 0.0107 0 0 0.0123 0.0103 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs117109315 rs117109315 1 1538 10 1/0 0,255,255 +rs772952491 12 50498378 C T - GPD1 4455 Glycerol-3-phosphate dehydrogenase 1 (soluble) NM_005276.3 1 3083 1050 NP_005267.2 P21695 substitution synonymous exon GRCh37 50498378 50498378 Chr12(GRCh37):g.50498378C>T 63 63 NM_005276.3:c.63C>T p.Ile21= p.Ile21Ile 2 138420 22 3' 79.3946 12.1894 0.775134 13.0619 79.3946 12.1894 0.775134 XII.93 0 Cryptic Acceptor Strongly Activated 50498395 0.332196 0.00012 63.7125 0.618506 0.000242 63.7125 Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal Glycerol-3-phosphate dehydrogenase, NAD-dependent, eukaryotic Glycerol-3-phosphate dehydrogenase, NAD-dependent rs772952491 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000033 0.000018 0.000000 0.000000 0.000033 3 0 0 0 0 1 2 0 0 245998 15294 33572 9838 17248 30768 111518 22284 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 66 Exomes COSM940301 Endometrium 0.001524 656 transition C T C>T 0.929 -0.360 I Ile ATC 0.481 I Ile ATT 0.356 21 255 PASS . . . . . . . . . . . ENSG00000167588:ENST00000547964:exon3:c.C107T:p.S36L . . . . 0.5425532 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . 0.7984 . . . . . . . . 1.579e-05 . . . 0 2.216e-05 0 0 0 4.783e-05 0 0 0 1.887e-05 0 0 0 3.69e-05 0 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167588 GPD1 GPD1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs772952491 . . . . . . ID\x3dCOSM940301\x3bOCCURENCE\x3d1(endometrium) . . . . . . . . . . . . . . . . . . . . . . 0 1.22e-05 0 0 0 0 1.793e-05 0 3.25e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 50535960 G C - CERS5 23749 Ceramide synthase 5 NM_147190.3 -1 2654 1179 NP_671723.1 Q8N5B7 substitution intron GRCh37 50535960 50535960 Chr12(GRCh37):g.50535960G>C 435-67 435-67 NM_147190.3:c.435-67C>G p.? p.? 4 3 615335 -67 3' 86.1009 9.30942 0.890717 5.13107 86.1009 9.30942 0.890717 5.20523 0 50535961 -10.1471 transversion C G C>G 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.53571427 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -0.1512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000272368 CERS5 CERS5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs182348615 12 51122308 G C - DIP2B 29284 DIP2 disco-interacting protein 2 homolog B (Drosophila) NM_173602.2 1 8715 4731 NP_775873.2 Q9P265 substitution intron GRCh37 51122308 51122308 Chr12(GRCh37):g.51122308G>C 3511-23 3511-23 NM_173602.2:c.3511-23G>C p.? p.? 30 29 611379 -23 3' 86.0348 9.91066 0.959557 XII.16 86.0348 9.91066 0.959557 13.1085 0 rs182348615 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.004000 0.000000 0.004047 0.000666 0.000379 0.000099 0.000000 0.002907 0.004897 0.013550 0.005139 0.013550 1116 16 13 1 0 89 616 348 33 275726 24016 34266 10092 18854 30614 125780 25682 6422 0.000036 0.000000 0.000000 0.000000 0.000000 0.000131 0.000016 0.000156 0.000000 5 0 0 0 0 2 1 2 0 1106 16 13 1 0 85 614 344 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4405 12974 31 1 32 0.00360465 0.000226963 0.0024604 0.00360465 0.000226963 0.0024604 98 transversion G C G>C 0.000 0.205 255 PASS . 0.0014 . . 0.004 . 0.001 . . 0.004 0.001 . . . . . 0.48214287 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||DIP2B|mRNA|CODING|NM_173602|) 0.0002 0.0025 0.0036 0.0002 0.0025 0.0036 . 0.9290 . . . . . . . . 4.460e-03 . . . 0.0006 0.0026 0 0 0.0108 0.0032 0.0029 0.0030 0.0003 0.0045 0 0 0.0103 0.0066 0.0059 0.0029 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.7 0.35 182 ENSG00000066084 DIP2B DIP2B . . . . . . 241 0.00370906 64976 236 0.00393425 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs182348615 . . . . . . . . . . . . . . . . . . . . . . . 0.002460 . . . . III.14 0.0006 0.0040 0.0004 0.0001 0 0.0137 0.0049 0.0050 0.0029 0.0008 0.0041 0 0 0 0.0126 0.0047 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs182348615 rs182348615 1 1538 10 1/0 0,255,255 +. 12 51386528 AAG A - SLC11A2 10908 Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 NM_001174125.1 -1 4156 1773 NP_001167596.1 deletion intron GRCh37 51386529 51386530 Chr12(GRCh37):g.51386529_51386530del 1284+63 1284+64 NM_001174125.1:c.1284+63_1284+64del p.? p.? 12 12 600523 63 5' 86.16 X.92 0.992866 6.45086 86.16 X.92 0.992866 6.45658 0 rs879020091 no no 0 0.000000 0 0.001418 0.000471 0.009259 0.012048 0.002513 0.000000 0.001009 0.006780 0.004329 0.012048 25 3 3 2 2 0 9 4 2 17628 6368 324 166 796 0 8922 590 462 0.320000 0.000000 0.333333 0.500000 0.000000 0.000000 0.333333 0.500000 0.500000 8 0 1 1 0 0 3 2 1 9 3 1 0 2 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 47 Genomes CT 255 Pass . . . . . . . . . . . . . . . . 0.4117647 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000110911 SLC11A2 SLC11A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv34039 . . . . . . . . . . . . . . . 0.0005 0.0014 0.0093 0.0120 0.0025 0.0068 0.0010 0.0043 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,23,255 +rs149264090 12 53566174 A T - CSAD 18966 Cysteine sulfinic acid decarboxylase NM_015989.4 -1 2695 1563 NP_057073.4 substitution missense exon GRCh37 53566174 53566174 Chr12(GRCh37):g.53566174A>T 381 381 NM_015989.4:c.381T>A p.His127Gln p.His127Gln 6 616569 -45 5' 68.8088 4.43656 0.262409 4.66469 68.8088 4.43656 0.262409 4.67791 0 New Acceptor Site 53566172 0.761892 0.001453 64.1844 Pyridoxal phosphate-dependent decarboxylase rs149264090 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.003000 0.005800 0.003164 0.000458 0.005840 0.005024 0.000000 0.001462 0.004001 0.001707 0.002783 0.005840 877 11 201 51 0 45 507 44 18 277190 24014 34420 10152 18868 30782 126706 25780 6468 0.000022 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 3 0 1 0 0 0 2 0 0 871 11 199 51 0 45 503 44 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4406 12975 31 0 31 0.00360465 0 0.00238352 0.00360465 0 0.00238352 95 transversion T A T>A 0.953 -0.198 H His CAT 0.413 Q Gln CAA 0.256 127 12 10 Zebrafish 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 209.02 I.62 Deleterious 0.04 III.53 good 1.813E-2 0.01745 255 PASS . 0.0009 . . 0.0026 . 0.0014 0.0058 . 0.003 . . . . . . 0.505618 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.513 . @ . . . . . 1 0.307 . . 89.0 . . . . 0.0024 0.0036 . 0.0024 0.0036 . -0.4768 -0.665 -0.477 c . . . . . 3.165e-03 . . . 0.0003 0.0032 0.0054 0 0.0016 0.0045 0.0028 0.0016 0.0003 0.0032 0.0054 0 0.0018 0.0043 0.0029 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.372 . . exonic exonic exonic . . 0.026 0.0014 . . . 0.35 0.27 182 ENSG00000139631 CSAD CSAD . . . 1.000 0.500 . 197 0.00303189 64976 190 0.00316741 59986 Likely_benign . 0 . 0.629 . . . . T 0.429 0.020 . . 37 . 0.451 . . 0.480 . . . 0.513 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.815 . . 0 0 0 0 0 0 . 0.715 . . 0.688 . . . . . . 0 0.682 . . . . . 0.783 . 0.877 . HET 0.01 rs149264090 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 15.8217 0.0 . 5.I -5.21 . 0.250000 . . . . 0.002384 . 0.224 . . . 0.0004 0.0033 0.0059 0.0050 0 0.0017 0.0042 0.0031 0.0015 0.0006 0.0018 0.0036 0.0066 0 0.0017 0.0025 0.0010 . . 0.609 . -0.906 -0.906000 . . 0.250000 . . 1.0E-255 0.197 0.241 . 0.270 0.967 . 0.123 . 0.061 -0.906 0.079 0.0036 . . rs149264090 rs149264090 1 1538 10 1/0 0,255,255 +rs190789570 12 54378834 T C - HOXC-AS3 43751 HOXC cluster antisense RNA 3 NR_047506.1 -1 368 0 substitution exon GRCh37 54378834 54378834 Chr12(GRCh37):g.54378834T>C 78 78 NR_047506.1:n.78A>G 2 34 3' 60.7371 1.54526 0.000185 0 60.7371 1.54526 0.000185 0 0 rs190789570 yes no Frequency/1000G 2 T 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.005000 0.004300 0.004953 0.000689 0.003580 0.006623 0.000000 0.000000 0.008365 0.003721 0.004090 0.008365 153 6 3 2 0 0 125 13 4 30888 8712 838 302 1620 0 14944 3494 978 0.013072 0.000000 0.000000 0.000000 0.000000 0.000000 0.016000 0.000000 0.000000 2 0 0 0 0 0 2 0 0 149 6 3 2 0 0 121 13 4 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition A G A>G 1.000 4.079 255 PASS . 0.0027 0.01 . 0.01 0.0008 0.0028 0.0043 . 0.005 0.0051 . . . . . 0.33333334 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . II.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . 0.0028 . . . 0.62 0.52 182 ENSG00000251151 HOXC10 HOXC-AS3 . . . . . . 307 0.00472482 64976 293 0.00488447 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190789570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.33 . . . . . . . . . 0.0007 0.0050 0.0036 0.0066 0 0.0037 0.0084 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190789570 rs190789570 1 1538 10 1/0 0,255,255 +rs190789570 12 54378834 T C - HOXC10 5122 Homeobox C10 NM_017409.3 1 1960 1029 NP_059105.2 Q9NYD6 substitution upstream GRCh37 54378834 54378834 Chr12(GRCh37):g.54378834T>C -210 -210 NM_017409.3:c.-210T>C p.? p.? 1 605560 -961 5' 94.6745 X.23 0.998904 14.3237 94.6745 X.23 0.998904 14.3237 0 rs190789570 yes no Frequency/1000G 2 T 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.005000 0.004300 0.004953 0.000689 0.003580 0.006623 0.000000 0.000000 0.008365 0.003721 0.004090 0.008365 153 6 3 2 0 0 125 13 4 30888 8712 838 302 1620 0 14944 3494 978 0.013072 0.000000 0.000000 0.000000 0.000000 0.000000 0.016000 0.000000 0.000000 2 0 0 0 0 0 2 0 0 149 6 3 2 0 0 121 13 4 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 1.000 4.079 255 PASS . 0.0027 0.01 . 0.01 0.0008 0.0028 0.0043 . 0.005 0.0051 . . . . . 0.33333334 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . II.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . 0.0028 . . . 0.62 0.52 182 ENSG00000251151 HOXC10 HOXC-AS3 . . . . . . 307 0.00472482 64976 293 0.00488447 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190789570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.33 . . . . . . . . . 0.0007 0.0050 0.0036 0.0066 0 0.0037 0.0084 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190789570 rs190789570 1 1538 10 1/0 0,255,255 +rs35784648 12 54394149 G A - HOXC-AS1 43749 HOXC cluster antisense RNA 1 XR_245986.1 -1 745 0 substitution upstream GRCh37 54394149 54394149 Chr12(GRCh37):g.54394149G>A -290 -290 XR_245986.1:n.-290C>T p.? p.? 1 -789 5' 64.1225 3.29971 0.073772 0.669549 64.1225 3.29971 0.073772 0.669549 0 rs35784648 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.005100 0.000000 0.001000 0.000000 0.003256 0.000584 0.000581 0.000888 0.000000 0.005003 0.004168 0.006359 0.002167 0.006359 901 14 20 9 0 154 527 163 14 276698 23960 34416 10140 18860 30782 126446 25634 6460 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000156 0.000000 4 0 0 0 0 0 2 2 0 893 14 20 9 0 154 523 159 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4402 12971 27 4 31 0.003141 0.000907853 0.00238425 0.003141 0.000907853 0.00238425 36 transition C T C>T 0.992 0.205 255 PASS . 0. . . . . 0.0012 . . 0.001 0.0051 . HOXC9:uc001seq.3:exon1:c.G177A:p.P59P HOXC9:NM_006897:exon1:c.G177A:p.P59P . . 0.4478261 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 230.0 . . . 0.0009 0.0024 0.0031 0.0009 0.0024 0.0031 . 2.0326 . . . . . . . . 3.276e-03 . . . 0.0010 0.0029 0.0007 0 0.0058 0.0036 0 0.0045 0.0008 0.0032 0.0006 0 0.0058 0.0039 0 0.0045 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.23 0.49 182 ENSG00000180806 HOXC9 HOXC9 . . . . . . 213 0.00327813 64976 208 0.00346748 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35784648 . . . . . . . . . . . . . . . . . . . . . . . 0.002384 . . . . II.13 0.0008 0.0032 0.0006 0.0009 0 0.0063 0.0040 0.0016 0.0050 0.0002 0.0035 0.0012 0 0 0.0066 0.0051 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0031 rs35784648 rs35784648 rs35784648 rs35784648 1 1538 10 1/0 0,222,251 +rs35784648 12 54394149 G A - HOXC9 5130 Homeobox C9 NM_006897.2 1 1516 783 NP_008828.1 P31274 substitution synonymous exon GRCh37 54394149 54394149 Chr12(GRCh37):g.54394149G>A 177 177 NM_006897.2:c.177G>A p.Pro59= p.Pro59Pro 1 142971 -362 5' 78.9497 9.09184 0.96285 13.5641 78.9497 9.09184 0.96285 13.5641 0 Hox9, N-terminal activation domain Homeobox protein Hox9 rs35784648 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.005100 0.000000 0.001000 0.000000 0.003256 0.000584 0.000581 0.000888 0.000000 0.005003 0.004168 0.006359 0.002167 0.006359 901 14 20 9 0 154 527 163 14 276698 23960 34416 10140 18860 30782 126446 25634 6460 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000156 0.000000 4 0 0 0 0 0 2 2 0 893 14 20 9 0 154 523 159 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4402 12971 27 4 31 0.003141 0.000907853 0.00238425 0.003141 0.000907853 0.00238425 36 transition G A G>A 0.992 0.205 P Pro CCG 0.115 P Pro CCA 0.274 59 255 PASS . 0. . . . . 0.0012 . . 0.001 0.0051 . HOXC9:uc001seq.3:exon1:c.G177A:p.P59P HOXC9:NM_006897:exon1:c.G177A:p.P59P . . 0.4478261 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 230.0 . . . 0.0009 0.0024 0.0031 0.0009 0.0024 0.0031 . 2.0326 . . . . . . . . 3.276e-03 . . . 0.0010 0.0029 0.0007 0 0.0058 0.0036 0 0.0045 0.0008 0.0032 0.0006 0 0.0058 0.0039 0 0.0045 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.23 0.49 182 ENSG00000180806 HOXC9 HOXC9 . . . . . . 213 0.00327813 64976 208 0.00346748 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35784648 . . . . . . . . . . . . . . . . . . . . . . . 0.002384 . . . . II.13 0.0008 0.0032 0.0006 0.0009 0 0.0063 0.0040 0.0016 0.0050 0.0002 0.0035 0.0012 0 0 0.0066 0.0051 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0031 rs35784648 rs35784648 rs35784648 rs35784648 1 1538 10 1/0 0,222,251 +rs34021536 (chr12:55805045 A/G) 12 55805045 A G No Alamut gene - other known genes: PHC1B PHC1B +rs201726730 (chr12:55807775 G/A) 12 55807775 G A No Alamut gene - other known genes: PHC1B PHC1B +. 12 56087036 A C - ITGA7 6143 Integrin, alpha 7 NM_001144996.1 -1 4136 3426 NP_001138468.1 substitution missense exon GRCh37 56087036 56087036 Chr12(GRCh37):g.56087036A>C 2613 2613 NM_001144996.1:c.2613T>G p.His871Gln p.His871Gln 20 600536 66 3' 94.386 XII.08 0.998494 13.1333 94.386 XII.08 0.998494 XII.81 0 New Acceptor Site 56087035 IV.42 0.228281 79.29 Integrin alpha-2 transversion T G T>G 0.520 -1.086 H His CAT 0.413 Q Gln CAG 0.744 871 13 8 Platypus 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 86.26 19.90 Tolerated 0.13 II.92 good 9.72E-2 0.03433 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . @ 6 . . 1.2.2016 0 1 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.433 . @ . . . . . 1 0.206 . . 49.0 . . . . . . . . . . -0.8583 -0.932 -0.858 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.018 @ . . . . . . ENSG00000135424 ITGA7 ITGA7 . . . 0.984 0.306 . . . . . . . Likely_benign . 0 . 0.486 . . . . T 0.479 0.025 . . 37 . 0.426 . . 0.470 . . . 0.547 0.270 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.503 . . 0 0 0 0 0 0 . 0.425 . . 0.516 . . . . . . 0 0.265 . . . . . 0.729 . 0.545 . LowAF 0.07 . . . . . . . . . . . . . 15.2204 . . IV.83 -6.32 . 0.400000 . . . . . . 0.164 . . . . . . . . . . . . . . . . . . . . . . 0.924 . -1.331 -1.331000 . . 0.400000 . . 9.999999999999999E-185 0.000 0.063 . 0.750 0.994 . 0.017 . 0.208 -1.331 -0.168 . . . . . 1 1538 10 1.I 0,0,0 +rs531753714 12 56211747 G C - ORMDL2 16037 ORM1-like 2 (S. cerevisiae) NM_014182.4 1 1334 462 NP_054901.1 Q53FV1 substitution upstream GRCh37 56211747 56211747 Chr12(GRCh37):g.56211747G>C -151 -151 NM_014182.4:c.-151G>C p.? p.? 1 610074 -150 5' 84.5905 9.78584 0.908294 6.91419 84.5905 9.78584 0.908294 6.91419 0 Cryptic Acceptor Strongly Activated 56211756 8.57224 0.832213 86.9746 X.28 0.940242 87.5076 rs531753714 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.006949 0.000115 0.000000 0.000000 0.000000 0.000000 0.009672 0.017755 0.007187 0.017755 215 1 0 0 0 0 145 62 7 30938 8720 836 302 1622 0 14992 3492 974 0.023256 0.000000 0.000000 0.000000 0.000000 0.000000 0.034483 0.000000 0.000000 5 0 0 0 0 0 5 0 0 205 1 0 0 0 0 135 62 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G C G>C 0.000 -1.167 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.48314607 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . . . . . . . . . 1.0766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5\x3bUTR3 intronic upstream . . . 0.0002 . . . . . . ENSG00000123353\x3bENSG00000257390 DNAJC14 . . . . . . . 99 0.00152364 64976 98 0.00163371 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531753714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0069 0 0 0 0.0178 0.0097 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs531753714 12 56211747 G C - SARNP 24432 SAP domain containing ribonucleoprotein NM_033082.3 -1 930 633 NP_149073.1 P82979 substitution upstream GRCh37 56211747 56211747 Chr12(GRCh37):g.56211747G>C -262 -262 NM_033082.3:c.-262C>G p.? p.? 1 610049 -298 5' 71.1933 IX.49 0.878352 VI.94 71.1933 IX.49 0.878352 VI.94 0 rs531753714 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.006949 0.000115 0.000000 0.000000 0.000000 0.000000 0.009672 0.017755 0.007187 0.017755 215 1 0 0 0 0 145 62 7 30938 8720 836 302 1622 0 14992 3492 974 0.023256 0.000000 0.000000 0.000000 0.000000 0.000000 0.034483 0.000000 0.000000 5 0 0 0 0 0 5 0 0 205 1 0 0 0 0 135 62 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C G C>G 0.000 -1.167 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.48314607 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . . . . . . . . . 1.0766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5\x3bUTR3 intronic upstream . . . 0.0002 . . . . . . ENSG00000123353\x3bENSG00000257390 DNAJC14 . . . . . . . 99 0.00152364 64976 98 0.00163371 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531753714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0069 0 0 0 0.0178 0.0097 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs56017157 12 56477541 C T - ERBB3 3431 V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) NM_001982.3 1 5757 4029 NP_001973.2 P21860 substitution missense exon GRCh37 56477541 56477541 Chr12(GRCh37):g.56477541C>T 89 89 NM_001982.3:c.89C>T p.Pro30Leu p.Pro30Leu 2 190151 7 3' 78.9067 8.27225 0.14232 XI.89 78.9067 8.27225 0.10661 X.59 -0.0836378 Tyrosine protein kinase, EGF/ERB/XmrK receptor rs56017157 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.002000 0.002900 0.002388 0.000083 0.000813 0.000099 0.000159 0.002631 0.002399 0.008299 0.004486 0.008299 662 2 28 1 3 81 304 214 29 277216 24030 34420 10152 18870 30782 126712 25786 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 660 2 28 1 3 81 304 212 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4405 12987 18 1 19 0.00209302 0.000226963 0.00146086 0.00209302 0.000226963 0.00146086 189 transition C T C>T 0.969 3.757 P Pro CCT 0.283 L Leu CTT 0.129 30 12 9 Cow -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 209.54 94.04 Deleterious 0.01 IV.32 bad 3.336E-4 0.00457 255 PASS . 0.0018 0.01 . 0.0026 . 0.001 0.0029 . 0.002 0.001 . . . . . 0.4574468 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.466 . @ . . . . . 1 0.130 . . 94.0 . . . 0.0002 0.0015 0.0021 0.0002 0.0015 0.0021 . -0.0050 0.103 -0.005 c . . . . . 2.155e-03 . . . 0.0003 0.0019 0.0007 0 0.0060 0.0023 0.0014 0.0026 0.0001 0.0020 0.0007 0 0.0065 0.0022 0.0014 0.0026 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.839 . . exonic exonic exonic . . 0.793 0.0010 . . . 0.5 0.62 182 ENSG00000065361 ERBB3 ERBB3 . . . 1.000 0.747 . 151 0.00232394 64976 146 0.0024339 59986 Uncertain_significance . 0 . 0.388 . . . . D 0.503 0.027 . . 37 . 0.708 . . 0.767 . . . 0.311 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.482 . . 0.469 . . . . . . 0 0.319 . . . . . 0.825 . 0.520 . HET 0.07 rs56017157 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 16.2954 0.0 . V.44 V.44 . 0.080000 . . . Name\x3dnsv832427 0.001461 . 0.315 . . V.44 6.534e-05 0.0023 0.0008 0.0001 0.0002 0.0082 0.0022 0.0040 0.0026 0.0001 0.0033 0 0 0 0.0092 0.0041 0.0072 . . 0.406 . 2.828 2.828000 . . 0.080000 . . 1.0E-255 0.042 0.209 . 0.697 0.930 . 0.482 . 0.490 2.828 0.871 0.01 rs56017157 rs56017157 rs56017157 rs56017157 1 1538 10 1/0 0,255,255 +rs55880327 12 56487657 G C - ERBB3 3431 V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) NM_001982.3 1 5757 4029 NP_001973.2 P21860 substitution synonymous exon GRCh37 56487657 56487657 Chr12(GRCh37):g.56487657G>C 1590 1590 NM_001982.3:c.1590G>C p.Val530= p.Val530Val 13 190151 -24 5' 58.9556 0.890482 0.078478 3.48968 58.9556 0.890482 0.078478 3.11389 0 Furin-like repeat Tyrosine protein kinase, EGF/ERB/XmrK receptor rs55880327 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.002000 0.002900 0.002238 0.000083 0.000697 0.000099 0.000053 0.002502 0.002164 0.008304 0.004177 0.008304 620 2 24 1 1 77 274 214 27 277070 24012 34416 10146 18868 30780 126612 25772 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 618 2 24 1 1 77 274 212 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4405 12990 15 1 16 0.00174419 0.000226963 0.0012302 0.00174419 0.000226963 0.0012302 81 transversion G C G>C 0.992 0.125 V Val GTG 0.468 V Val GTC 0.240 530 255 PASS . 0.0018 0.01 . 0.0026 . 0.001 0.0029 . 0.002 0.001 . . ERBB3:NM_001982:exon13:c.G1590C:p.V530V . . 0.5 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtC|V530|ERBB3|mRNA|CODING|NM_001982|NM_001982.ex.13) 0.0002 0.0012 0.0017 0.0002 0.0012 0.0017 . 1.0240 . . . . . . . . 2.028e-03 . . . 0.0002 0.0018 0.0006 0 0.0060 0.0022 0.0014 0.0025 0.0001 0.0019 0.0006 0 0.0064 0.0020 0.0014 0.0025 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.59 0.49 182 ENSG00000065361 ERBB3 ERBB3 . . . . . . 137 0.00210847 64976 132 0.00220051 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55880327 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832427 0.001230 . . . . . 6.534e-05 0.0021 0.0007 0.0001 5.798e-05 0.0082 0.0020 0.0036 0.0025 0.0001 0.0030 0 0 0 0.0092 0.0036 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs55880327 rs55880327 rs55880327 rs55880327 1 1538 10 1/0 0,242,249 +rs2066814 12 56742445 T C - STAT2 11363 Signal transducer and activator of transcription 2, 113kDa NM_005419.3 -1 4551 2556 NP_005410.1 P52630 substitution intron GRCh37 56742445 56742445 Chr12(GRCh37):g.56742445T>C 1630-38 1630-38 NM_005419.3:c.1630-38A>G p.? p.? 19 18 600556 -38 3' 83.644 9.88087 0.880649 X.83 83.644 9.88087 0.880649 X.44 0 rs2066814 yes no Frequency/HapMap/1000G 3 T 0.000000 0 0.001797 0.000000 0.004100 0.000000 0.004000 0.001400 0.005392 0.000874 0.002993 0.007585 0.000000 0.005003 0.008071 0.003026 0.006035 0.008071 1494 21 103 77 0 154 1022 78 39 277078 24014 34412 10152 18856 30780 126624 25778 6462 0.000072 0.000000 0.000174 0.000000 0.000000 0.000260 0.000047 0.000000 0.000000 10 0 3 0 0 4 3 0 0 1474 21 97 77 0 146 1016 78 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8537 4406 12943 63 0 63 0.00732558 0 0.00484392 0.00732558 0 0.00484392 81 transition A G A>G 0.000 -0.279 255 PASS . 0.0018 0.0028 . 0.004 . 0.0018 0.0014 . 0.004 0.0041 . . . . . 0.4814815 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . 0.0048 0.0073 . 0.0048 0.0073 . 0.0389 . . . . . . . . 5.343e-03 . . . 0.0005 0.0052 0.0033 0 0.0024 0.0079 0.0028 0.0048 0.0006 0.0049 0.0033 0 0.0032 0.0068 0.0043 0.0049 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.56 0.17 182 ENSG00000170581 STAT2 STAT2 . . . . . . 301 0.00463248 64976 292 0.0048678 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2066814 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv482992 0.004844 . . . . . 0.0008 0.0052 0.0029 0.0074 0 0.0031 0.0076 0.0055 0.0050 0.0010 0.0068 0.0072 0.0132 0 0.0026 0.0116 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0073 rs2066814 rs2066814 rs2066814 rs2066814 1 1538 10 1/0 0,245,255 +rs774081004 12 56826251 C T - TIMELESS 11813 Timeless homolog (Drosophila) NM_003920.3 -1 5138 3627 NP_003911.2 Q9UNS1 substitution missense exon GRCh37 56826251 56826251 Chr12(GRCh37):g.56826251C>T 589 589 NM_003920.3:c.589G>A p.Gly197Ser p.Gly197Ser 7 603887 58 3' 74.419 4.38495 0.071073 3.81352 74.419 4.38495 0.071073 3.59213 0 Timeless protein rs774081004 yes no Frequency 1 C 0.000000 0 0.000137 0.000000 0.000000 0.000000 0.000000 0.000065 0.000253 0.000116 0.000155 0.000253 38 0 0 0 0 2 32 3 1 277016 24028 34416 10146 18870 30782 126516 25790 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 0 0 0 0 2 32 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 1.000 5.774 G Gly GGC 0.342 S Ser AGC 0.243 197 11 10 C. elegans 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 126.46 46.70 Tolerated 0.07 II.84 good 3.426E-1 0.02273 255 PASS . . . . . . . . . . . . . TIMELESS:NM_003920:exon7:c.G589A:p.G197S . . 0.51428574 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.954 . @ . . . . . 1 0.963 . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G197S|TIMELESS|mRNA|CODING|NM_003920|NM_003920.ex.7) . . . . . . . 0.7557 0.740 0.756 c . . . . . 1.263e-04 . . . 0 8.82e-05 0 0 0 0.0001 0.0014 6.06e-05 0 0.0001 0 0 0.0002 0.0002 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.646 . . exonic exonic exonic . . 0.753 @ . . . . . . ENSG00000111602 TIMELESS TIMELESS . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.585 0.039 . . 37 . 0.764 . . 0.772 . . . 0.867 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.804 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.574 . . . . . 0.896 . 0.779 . HET 0.05 rs774081004 . . . . . . . . . . . . 18.1497 . . V.32 V.32 . 0.040000 . . . Name\x3dnsv482992 . . 0.912 . . V.32 0 0.0001 0 0 0 8.969e-05 0.0003 0.0002 6.497e-05 0 0.0001 0 0 0 0.0003 0.0002 0 . . 0.830 . 2.675 2.675000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.750 0.996 . 0.819 . 0.490 2.675 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs11171845 12 56826758 A G - TIMELESS 11813 Timeless homolog (Drosophila) NM_003920.3 -1 5138 3627 NP_003911.2 Q9UNS1 substitution intron GRCh37 56826758 56826758 Chr12(GRCh37):g.56826758A>G 531+52 531+52 NM_003920.3:c.531+52T>C p.? p.? 6 6 603887 52 5' 90.3122 9.15773 0.851234 7.04347 90.3122 9.15773 0.851234 7.11542 0 rs11171845 yes no Frequency/1000G 2 A 0.000000 0 0.009503 0.003848 0.005172 0.014019 0.000000 0.000000 0.007311 0.064286 0.025237 0.064286 210 27 3 3 0 0 80 81 16 22098 7016 580 214 1452 0 10942 1260 634 0.066667 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.148148 0.125000 14 0 0 0 0 0 0 12 2 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.8235294 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||TIMELESS|mRNA|CODING|NM_003920|) . . . . . . . -0.4434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.06 182 ENSG00000111602 TIMELESS TIMELESS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11171845 0.304 0.268 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv482992 . . . . . . . . . . . . . . . 0.0038 0.0095 0.0052 0.0140 0 0.0643 0.0073 0.0252 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 rs11171845 rs11171845 rs11171845 rs11171845 1 1538 10 1/0 0,255,255 +rs535153369 12 57032245 C T - ATP5B 830 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide NM_001686.3 -1 1843 1590 NP_001677.2 P06576 substitution intron GRCh37 57032245 57032245 Chr12(GRCh37):g.57032245C>T 1490-38 1490-38 NM_001686.3:c.1490-38G>A p.? p.? 10 9 102910 -38 3' 80.7658 X.24 0.706298 X.65 80.7658 X.24 0.706298 10.726 0 rs535153369 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000218 0.000066 0.000032 0.000000 0.000000 0.001388 0.000056 0.000000 0.000578 0.001388 51 1 1 0 0 40 6 0 3 233754 15074 31502 9512 16542 28812 108100 19024 5188 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 1 1 0 0 40 6 0 3 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition G A G>A 0.000 -2.619 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.5151515 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.4357 . . . . . . . . 2.052e-04 . . . 0 0.0003 0 0 0 0 0 0.0015 0 0.0002 0 0 0 1.846e-05 0 0.0015 . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000110955 ATP5B ATP5B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535153369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.634e-05 0.0002 3.174e-05 0 0 0 5.55e-05 0.0006 0.0014 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs56743414 12 57111939 T G - NACA 7629 Nascent polypeptide-associated complex alpha subunit NM_001113203.2 -1 3171 2778 NP_001106674.2 substitution intron GRCh37 57111939 57111939 Chr12(GRCh37):g.57111939T>G 1864+1382 1864+1382 NM_001113203.2:c.1864+1382A>C p.? p.? 4 4 601234 1382 5' 76.2121 VIII.38 0.921563 2.22888 76.2121 VIII.38 0.921563 2.22888 0 Cryptic Acceptor Strongly Activated 57111925 1.9e-05 64.0074 2.0854 6.7e-05 66.635 rs56743414 yes no Frequency/1000G 2 0.000000 0 0.001001 0.001006 0.002339 0.003817 0.003601 0.000447 0.000393 0.001514 0.002786 0.003817 44 6 5 3 7 1 9 11 2 43954 5962 2138 786 1944 2238 22902 7266 718 0.000364 0.000000 0.000935 0.000000 0.002058 0.000000 0.000175 0.000826 0.000000 8 0 1 0 2 0 2 3 0 28 6 3 3 3 1 5 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -3.104 255 PASS 0.1 0.16 0.26 0.2 0.13 . . . . . . ENSG00000196531:ENST00000454682:exon3:c.A3375C:p.A1125A . . . . 0.32894737 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . -0.7050 . . . . . . . . . . . . 0.0002 0.0004 0.0008 0 0.0009 0.0005 0 0.0004 0.0002 0.0003 0.0008 0 0.0005 0.0003 0 0.0004 synonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.29 0.17 182 ENSG00000196531 NACA NACA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56743414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0019 0.0027 0.0037 0.0011 0.0002 0 0.0004 0.0064 0.0080 0.0192 0.0312 0 0.0147 0.0057 0.0278 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 . rs56743414 rs56743414 rs56743414 1 1538 10 1/0 0,255,255 +rs58668145 12 57111948 G T - NACA 7629 Nascent polypeptide-associated complex alpha subunit NM_001113203.2 -1 3171 2778 NP_001106674.2 substitution intron GRCh37 57111948 57111948 Chr12(GRCh37):g.57111948G>T 1864+1373 1864+1373 NM_001113203.2:c.1864+1373C>A p.? p.? 4 4 601234 1373 5' 76.2121 VIII.38 0.921563 2.22888 76.2121 VIII.38 0.921563 2.22888 0 rs58668145 yes no Frequency/1000G 2 0.000000 0 0.496006 0.245100 0.680000 0.612100 0.501000 0.538900 0.000510 0.000000 0.001370 0.002604 0.013378 0.000000 0.000000 0.000187 0.000000 0.013378 11 0 1 1 8 0 0 1 0 21570 3300 730 384 598 724 10198 5358 278 0.181818 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 7 0 1 1 4 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 424 Exomes transversion C A C>A 0.504 0.448 187 PASS . . . . . 0.25 0.5 0.54 0.61 0.5 0.68 ENSG00000196531:ENST00000454682:exon3:c.C3366A:p.H1122Q . . . . 0.12765957 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.105 . @ . . . . . 2 0.084 . . 94.0 . . . . . . . . . . -0.9309 -0.996 -0.931 c . . . . . . . . . 0.0003 0.0007 0 0.0024 0 0.0010 0 0 0.0004 0.0006 0 0.0017 0 0.0008 0 0 nonsynonymous_SNV . . 0.411 . . exonic intronic intronic . . 0.247 0.4960 . . . 0.24 0.12 182 ENSG00000196531 NACA NACA . . . 0.799 0.241 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.270 . . 0.226 . . . . 0.305 . . . . . . . . . . . . . . . 0.016 . . . . . . 0 . . 0.067 . . 0.013 . . . . . . 0 0.010 . . . . . 0.387 . 0.005 . LowAF 0.56 rs58668145 . . . . . . . . . . . . IX.51 . ENST00000454682 II.85 1.IX . . E9PAV3 . . . . . 0.195 . . . 0 0.0005 0.0014 0.0026 0.0134 0.0002 0 0 0 . . . . . . . . . . 0.093 . 0.174 0.174000 . . . . . 1.0E-187 0.000 0.063 . 0.043 0.002 . 0.091 . 0.037 0.174 -0.041 . . rs58668145 rs58668145 rs58668145 1 1538 10 1/0 0,231,255 +. 12 57472588 C A - NEMP1 29001 Nuclear envelope integral membrane protein 1 NM_001130963.1 -1 5617 1335 NP_001124435.1 O14524 substitution upstream GRCh37 57472588 57472588 Chr12(GRCh37):g.57472588C>A -60 -60 NM_001130963.1:c.-60G>T p.? p.? 1 616496 -187 5' 71.4999 10.0514 0.891049 X.53 71.4999 10.0514 0.891049 X.53 0 transversion G T G>T 0.969 2.465 255 PASS . . . . . . . . . . . . . . . . 0.46478873 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 71.0 . . . . . . . . . . II.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000166881 TMEM194A NEMP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832428 . . . . . 4.IX . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs559211226 12 57940728 G T - DCTN2 2712 Dynactin subunit 2 NM_001348065.1 -1 2179 1341 NP_001334994.1 substitution upstream GRCh37 57940728 57940728 Chr12(GRCh37):g.57940728G>T -285 -285 NM_001348065.1:c.-285C>A p.? p.? 1 607376 -450 5' 90.3122 9.15773 0.994752 6.05621 90.3122 9.15773 0.994752 6.05621 0 rs559211226 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.006000 0.002900 0.009155 0.002189 0.007160 0.019868 0.000000 0.000000 0.010464 0.024411 0.010309 0.024411 282 19 6 6 0 0 156 85 10 30802 8680 838 302 1622 0 14908 3482 970 0.003546 0.000000 0.000000 0.000000 0.000000 0.000000 0.006410 0.000000 0.000000 1 0 0 0 0 0 1 0 0 280 19 6 6 0 0 154 85 10 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion C A C>A 0.921 0.932 255 PASS . . . . . 0.0008 0.0028 0.0029 . 0.006 0.0051 . . . . . 0.33333334 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . II.69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0028 . . . . . . ENSG00000175203 DCTN2 DCTN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs559211226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VII . . . . . . . . . 0.0022 0.0092 0.0072 0.0199 0 0.0244 0.0105 0.0103 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs192960012 12 57969558 C T - KIF5A 6323 Kinesin family member 5A NM_004984.3 1 5831 3099 NP_004975.2 Q12840 substitution intron GRCh37 57969558 57969558 Chr12(GRCh37):g.57969558C>T 2023+18 2023+18 NM_004984.3:c.2023+18C>T p.? p.? 17 17 602821 18 5' 81.3514 7.13226 0.924867 4.83424 81.3514 7.13226 0.924867 4.65448 0 rs192960012 yes no Frequency/1000G 2 C benign 0.000000 0 0.001997 0.000800 0.001000 0.000000 0.006000 0.002900 0.009237 0.001207 0.002092 0.003842 0.000000 0.001722 0.012697 0.027482 0.008045 0.027482 2559 29 72 39 0 53 1608 706 52 277038 24022 34414 10150 18868 30782 126648 25690 6464 0.000173 0.000000 0.000058 0.000000 0.000000 0.000065 0.000237 0.000545 0.000000 24 0 1 0 0 1 15 7 0 2511 29 70 39 0 51 1578 692 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8509 4399 12908 91 7 98 0.0105814 0.00158874 0.00753498 0.0105814 0.00158874 0.00753498 125 RCV000439493.1 germline clinical testing Benign 1 not specified transition C T C>T 0.016 1.013 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.002 0.0029 . 0.006 0.001 . . . . . 0.46835443 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||KIF5A|mRNA|CODING|NM_004984|) 0.0016 0.0075 0.011 0.0016 0.0075 0.011 . 0.2826 . . . . . . . . 9.771e-03 . . . 0.0013 0.0059 0.0020 0 0.0237 0.0090 0.0084 0.0014 0.0011 0.0098 0.0021 0 0.0257 0.0149 0.0086 0.0014 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.51 0.51 182 ENSG00000155980 KIF5A KIF5A . . . . . . 783 0.0120506 64976 773 0.0128863 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192960012 . . . . . . . . . . . . . . . . . . . . . . . 0.007535 . . . . 2.III 0.0010 0.0094 0.0020 0.0040 0 0.0280 0.0131 0.0078 0.0017 0.0015 0.0083 0.0048 0 0 0.0243 0.0098 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs192960012 rs192960012 1 1538 10 1/0 0,255,255 +rs189141503 12 57976829 T C - KIF5A 6323 Kinesin family member 5A NM_004984.3 1 5831 3099 NP_004975.2 Q12840 substitution intron GRCh37 57976829 57976829 Chr12(GRCh37):g.57976829T>C 3021-55 3021-55 NM_004984.3:c.3021-55T>C p.? p.? 28 27 602821 -55 3' 91.8586 9.21678 0.955444 3.32388 91.8586 9.21678 0.955444 2.78952 0 57976831 -24.7594 rs189141503 yes no Frequency/1000G 2 T 0.000000 0 0.004193 0.000800 0.010200 0.000000 0.008000 0.002900 0.009635 0.002410 0.007160 0.016556 0.000000 0.000000 0.011344 0.024628 0.010183 0.024628 298 21 6 5 0 0 170 86 10 30930 8712 838 302 1618 0 14986 3492 982 0.003356 0.000000 0.000000 0.000000 0.000000 0.000000 0.005882 0.000000 0.000000 1 0 0 0 0 0 1 0 0 296 21 6 5 0 0 168 86 10 0 0 0 0 0 0 0 0 0 PASS 40 Genomes 3137 1378 4515 45 6 51 0.014142 0.00433526 0.0111695 0.014142 0.00433526 0.0111695 35 transition T C T>C 0.000 -0.924 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.0042 0.0029 . 0.008 0.01 . . . . . 0.4262295 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . INTRON(MODIFIER||||KIF5A|mRNA|CODING|NM_004984|) 0.0043 0.011 0.014 0.0043 0.011 0.014 . -0.0055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.16 0.12 182 ENSG00000155980 KIF5A KIF5A . . . . . . 904 0.0139128 64976 883 0.0147201 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189141503 . . . . . . . . . . . . . . . . . . . . . . . 0.011170 . . . . . . . . . . . . . . 0.0024 0.0096 0.0072 0.0166 0 0.0246 0.0113 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 . . rs189141503 rs189141503 1 1538 10 1/0 0,255,255 +. 12 58145526 TCA T - CDK4 1773 Cyclin dependent kinase 4 NM_000075.3 -1 2002 912 NP_000066.1 P11802 deletion intron GRCh37 58145527 58145528 Chr12(GRCh37):g.58145527_58145528del -28 -27 NM_000075.3:c.-19-9_-19-8del p.? p.? 2 1 123829 -8 3' 79.3925 0 0.109778 0 0 0 0.181665 0 -0.17258 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243998 15118 33380 9808 17130 30660 110498 21962 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 129 Exomes 8253 4262 12515 1 0 1 0.000121153 0 7.98977e-05 0.000121153 0 7.98977e-05 30 TG 255 Pass . . . . . . . . . . . . . . . . 0.59322035 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 59 . . . . 0.0001 0.0001 . 0.0001 0.0001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . . . . . . . . ENSG00000135446 CDK4 CDK4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000080 . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . . . 1 1538 10 1.I 0,12,23 +rs760369242 12 58200246 G T - AVIL 14188 Advillin NM_006576.3 -1 2995 2460 NP_006567.3 O75366 substitution missense exon GRCh37 58200246 58200246 Chr12(GRCh37):g.58200246G>T 1568 1568 NM_006576.3:c.1568C>A p.Ser523Tyr p.Ser523Tyr 13 613397 77 3' 90.3358 XII.22 0.998698 11.1128 90.3358 XII.22 0.998698 X.54 0 Gelsolin rs760369242 yes no Frequency 1 G 0.000000 0 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000134 0.000000 0.000000 0.000134 17 0 0 0 0 0 17 0 0 277176 24032 34420 10146 18870 30782 126670 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 0 0 0 0 17 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM2156252 Central nervous system 0.000416 2405 transversion C A C>A 0.685 1.093 S Ser TCT 0.185 Y Tyr TAT 0.438 523 14 11 Fruitfly -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 254.01 4.V Tolerated 0.11 III.48 good 1.666E-1 0.08864 255 PASS . . . . . . . . . . . . . AVIL:NM_006576:exon13:c.C1568A:p.S523Y . . 0.44 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.168 . @ . . . . . 1 0.160 . . 75.0 . . . . . . . . . . -0.7829 -0.617 -0.783 c . . . . . 3.157e-05 . . . 0 2.208e-05 0 0 0 4.756e-05 0 0 0 9.418e-06 0 0 0 1.84e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.372 @ . . . 0.65 0.42 182 ENSG00000135407 AVIL AVIL . . . 0.261 0.188 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.037 0.002 . . 37 . 0.064 . . 0.256 . . . 0.130 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.026 . . 0.127 . . . . . . 1 0.010 . . . . . 0.469 . 0.652 . HET 1 rs760369242 . . . . . . ID\x3dCOSM2156252\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . 11.045 . . V.16 III.34 . 1.000000 . . . Name\x3dnsv470297 . . 0.223 . . III.34 0 2.843e-05 0 0 0 0 6.269e-05 0 0 0 0.0003 0 0 0 0 0.0007 0 . . 0.465 . 0.757 0.757000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.888 0.998 . 0.224 . 0.713 0.757 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs77928566 12 58217345 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217345 58217345 Chr12(GRCh37):g.58217345G>A *40 *40 NM_005730.3:c.*40C>T p.? p.? 8 608711 166 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs77928566 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 238350 14732 33178 9660 17020 30246 108358 19826 5330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 62 Exomes transition C T C>T 0.992 3.918 254 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . I.44 . . . . . . . . 7.927e-06 . . . . . . . . . . . 0 1.03e-05 0 0 0 1.982e-05 0 0 . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.63 0.6 182 ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*40C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77928566 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . V.26 0 4.196e-06 0 0 0 0 9.229e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs77928566 rs77928566 1 1538 10 1/0 0,241,255 +rs77928566 12 58217345 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217345 58217345 Chr12(GRCh37):g.58217345G>A *1047 *1047 NR_029847.1:n.*1047C>T p.? p.? 1 613057 rs77928566 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 238350 14732 33178 9660 17020 30246 108358 19826 5330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 62 Exomes transition C T C>T 0.992 3.918 254 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . I.44 . . . . . . . . 7.927e-06 . . . . . . . . . . . 0 1.03e-05 0 0 0 1.982e-05 0 0 . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.63 0.6 182 ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*40C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77928566 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . V.26 0 4.196e-06 0 0 0 0 9.229e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs77928566 rs77928566 1 1538 10 1/0 0,241,255 +rs76037237 12 58217356 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217356 58217356 Chr12(GRCh37):g.58217356G>T *29 *29 NM_005730.3:c.*29C>A p.? p.? 8 608711 155 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs76037237 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.228 1.497 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.64 0.61 182 ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*29C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76037237 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . 4.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs76037237 rs76037237 1 1538 10 1/0 0,235,255 +rs76037237 12 58217356 G T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217356 58217356 Chr12(GRCh37):g.58217356G>T *1036 *1036 NR_029847.1:n.*1036C>A p.? p.? 1 613057 rs76037237 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.228 1.497 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.64 0.61 182 ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*29C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76037237 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . 4.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs76037237 rs76037237 1 1538 10 1/0 0,235,255 +rs796480697 12 58217364 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217364 58217364 Chr12(GRCh37):g.58217364G>A *21 *21 NM_005730.3:c.*21C>T p.? p.? 8 608711 147 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs796480697 no no 0 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000033 0.000009 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 242842 15030 33436 9782 17164 30570 110148 21292 5420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 66 Exomes transition C T C>T 0.000 -0.844 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.095 . @ . . . . . 3 0.152 . . 124.0 . . . . . . . . . . -0.1798 -0.118 -0.180 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.021 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*21C>T 1.000 0.425 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.593 . . . HET 0.05 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.185 . . . 0 8.236e-06 0 0 0 0 9.079e-06 0 3.271e-05 . . . . . . . . . . 0.036 . . . . . . . . 1.0E-232 0.000 0.063 . 0.221 0.052 . 0.063 . 0.015 . -0.898 . . . . . 1 1538 10 1/0 0,230,255 +rs796480697 12 58217364 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217364 58217364 Chr12(GRCh37):g.58217364G>A *1028 *1028 NR_029847.1:n.*1028C>T p.? p.? 1 613057 rs796480697 no no 0 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000033 0.000009 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 242842 15030 33436 9782 17164 30570 110148 21292 5420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 66 Exomes transition C T C>T 0.000 -0.844 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.095 . @ . . . . . 3 0.152 . . 124.0 . . . . . . . . . . -0.1798 -0.118 -0.180 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.021 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*21C>T 1.000 0.425 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.593 . . . HET 0.05 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.185 . . . 0 8.236e-06 0 0 0 0 9.079e-06 0 3.271e-05 . . . . . . . . . . 0.036 . . . . . . . . 1.0E-232 0.000 0.063 . 0.221 0.052 . 0.063 . 0.015 . -0.898 . . . . . 1 1538 10 1/0 0,230,255 +rs758621065 12 58217366 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217366 58217366 Chr12(GRCh37):g.58217366C>T *19 *19 NM_005730.3:c.*19G>A p.? p.? 8 608711 145 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs758621065 yes no Frequency 1 C 0.000000 0 0.000051 0.000042 0.000000 0.000000 0.000000 0.000131 0.000072 0.000000 0.000000 0.000131 14 1 0 0 0 4 9 0 0 274298 23796 34298 10098 18808 30634 125298 24942 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 0 0 0 4 9 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.008 -0.521 228 PASS . . . . . . . . . . . . . . . . 0.23770492 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.131 . @ . . . . . 3 0.138 . . 122.0 . . . . . . . . . . 0.0620 -0.083 0.062 n . . . . . 5.549e-05 . . . 0 7.096e-05 0 0 0 7.589e-05 0 0.0002 0 5.065e-05 0 0 0 3.903e-05 0 0.0002 . . . . . . UTR3 UTR3 UTR3 . . 0.043 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*19G>A 0.996 0.347 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.395 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.153 . . . HET 1 rs758621065 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.090 . . . 0 4.931e-05 0 0 0 0 7.252e-05 0 0.0001 0.0001 6.463e-05 0 0 0 0 6.672e-05 0 . . 0.036 . . . . . . . . 1.0E-228 0.000 0.063 . 0.223 0.072 . 0.085 . 0.032 . -0.604 . . . . . 1 1538 10 1/0 0,229,255 +rs758621065 12 58217366 C T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217366 58217366 Chr12(GRCh37):g.58217366C>T *1026 *1026 NR_029847.1:n.*1026G>A p.? p.? 1 613057 rs758621065 yes no Frequency 1 C 0.000000 0 0.000051 0.000042 0.000000 0.000000 0.000000 0.000131 0.000072 0.000000 0.000000 0.000131 14 1 0 0 0 4 9 0 0 274298 23796 34298 10098 18808 30634 125298 24942 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 0 0 0 4 9 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.008 -0.521 228 PASS . . . . . . . . . . . . . . . . 0.23770492 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.131 . @ . . . . . 3 0.138 . . 122.0 . . . . . . . . . . 0.0620 -0.083 0.062 n . . . . . 5.549e-05 . . . 0 7.096e-05 0 0 0 7.589e-05 0 0.0002 0 5.065e-05 0 0 0 3.903e-05 0 0.0002 . . . . . . UTR3 UTR3 UTR3 . . 0.043 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*19G>A 0.996 0.347 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.395 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.153 . . . HET 1 rs758621065 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.090 . . . 0 4.931e-05 0 0 0 0 7.252e-05 0 0.0001 0.0001 6.463e-05 0 0 0 0 6.672e-05 0 . . 0.036 . . . . . . . . 1.0E-228 0.000 0.063 . 0.223 0.072 . 0.085 . 0.032 . -0.604 . . . . . 1 1538 10 1/0 0,229,255 +rs796202970 12 58217370 T G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217370 58217370 Chr12(GRCh37):g.58217370T>G *15 *15 NM_005730.3:c.*15A>C p.? p.? 8 608711 141 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Cryptic Acceptor Strongly Activated 58217367 2.47081 0.055566 67.5586 4.82335 0.71492 77.526 rs796202970 no no 0 T 0.000000 0 transversion A C A>C 0.976 -0.198 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.246 . @ . . . . . 3 0.081 . . 128.0 . . . . . . . . . . 0.7642 0.037 0.764 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.108 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*15A>C 0.984 0.306 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.007 . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.250 . . . . . . . . . . . . . . . . . . . . . . 0.036 . . . . . . . . 1.0E-232 0.899 0.312 . 0.307 0.343 . 0.051 . 0.231 . -0.013 . . . . . 1 1538 10 1/0 0,229,255 +rs796202970 12 58217370 T G - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217370 58217370 Chr12(GRCh37):g.58217370T>G *1022 *1022 NR_029847.1:n.*1022A>C p.? p.? 1 613057 rs796202970 no no 0 T 0.000000 0 transversion A C A>C 0.976 -0.198 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.246 . @ . . . . . 3 0.081 . . 128.0 . . . . . . . . . . 0.7642 0.037 0.764 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.108 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*15A>C 0.984 0.306 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.007 . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.250 . . . . . . . . . . . . . . . . . . . . . . 0.036 . . . . . . . . 1.0E-232 0.899 0.312 . 0.307 0.343 . 0.051 . 0.231 . -0.013 . . . . . 1 1538 10 1/0 0,229,255 +rs796514979 12 58217380 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217380 58217380 Chr12(GRCh37):g.58217380G>A *5 *5 NM_005730.3:c.*5C>T p.? p.? 8 608711 131 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Cryptic Acceptor Strongly Activated 58217367 2.47081 0.055566 67.5586 3.41286 0.169536 70.6742 rs796514979 no no 0 G 0.000000 0 transition C T C>T 0.055 0.286 200 PASS . . . . . . . . . . . . . . . . 0.16030534 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 131.0 . . . . . . . . . . 1.0201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*5C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796514979 12 58217380 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217380 58217380 Chr12(GRCh37):g.58217380G>A *1012 *1012 NR_029847.1:n.*1012C>T p.? p.? 1 613057 rs796514979 no no 0 G 0.000000 0 transition C T C>T 0.055 0.286 200 PASS . . . . . . . . . . . . . . . . 0.16030534 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 131.0 . . . . . . . . . . 1.0201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*5C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796646762 12 58217381 C A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217381 58217381 Chr12(GRCh37):g.58217381C>A *4 *4 NM_005730.3:c.*4G>T p.? p.? 8 608711 130 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Cryptic Acceptor Strongly Activated 58217367 2.47081 0.055566 67.5586 3.13351 0.102882 70.6742 rs796646762 no no 0 C 0.000000 0 transversion G T G>T 0.071 0.044 229 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.368 . @ . . . . . 3 0.163 . . 125.0 . . . . . . . . . . 0.7402 0.005 0.740 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.219 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*4G>T 0.986 0.310 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.028 . . . HET 0.08 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.036 . . . . . . . . 1.0E-229 0.000 0.063 . 0.552 0.712 . 0.126 . 0.148 . -0.677 . . . . . 1 1538 10 1/0 0,229,255 +rs796646762 12 58217381 C A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217381 58217381 Chr12(GRCh37):g.58217381C>A *1011 *1011 NR_029847.1:n.*1011G>T p.? p.? 1 613057 rs796646762 no no 0 C 0.000000 0 transversion G T G>T 0.071 0.044 229 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.368 . @ . . . . . 3 0.163 . . 125.0 . . . . . . . . . . 0.7402 0.005 0.740 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.219 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*4G>T 0.986 0.310 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.028 . . . HET 0.08 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.036 . . . . . . . . 1.0E-229 0.000 0.063 . 0.552 0.712 . 0.126 . 0.148 . -0.677 . . . . . 1 1538 10 1/0 0,229,255 +. 12 58217388 AG A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 deletion frameshift exon GRCh37 58217389 58217389 Chr12(GRCh37):g.58217389del 812 812 NM_005730.3:c.812del p.Pro271Leufs*52 p.Pro271Leufs*52 8 608711 122 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs796385100 no no 0 G 0.000000 0 C 255 Pass . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.812delC:p.P271fs . . 0.23134328 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,64 +. 12 58217388 AG A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 deletion downstream GRCh37 58217389 58217389 Chr12(GRCh37):g.58217389del *1003 *1003 NR_029847.1:n.*1003del p.? p.? 1 613057 rs796385100 no no 0 G 0.000000 0 C 255 Pass . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.812delC:p.P271fs . . 0.23134328 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,64 +rs745742336 12 58217396 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217396 58217396 Chr12(GRCh37):g.58217396G>A 805 805 NM_005730.3:c.805C>T p.Arg269Trp p.Arg269Trp 8 608711 115 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Cryptic Acceptor Strongly Activated 58217384 0.004834 62.5049 0.622397 0.007436 65.8195 rs745742336 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 245236 15208 33540 9824 17236 30740 111152 22074 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes transition C T C>T 1.000 2.223 R Arg CGG 0.207 W Trp TGG 1.000 269 11 1 -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 247.14 74.61 Deleterious 0.02 III.39 good 7.999E-2 0.1616 226 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C805T:p.R269W . . 0.22962964 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.954 . @ . . . . . 1 0.990 . . 135.0 . . . . . . . . . . 0.6811 0.651 0.681 c . . . . . 7.921e-06 . . . 0 1.148e-05 0 0 0 0 0 6.217e-05 0 9.804e-06 0 0 0 0 0 6.253e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.348 . . exonic exonic exonic . . 0.504 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.467 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.506 0.028 . . 37 . 0.559 . . 0.581 . . . 0.786 0.506 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.753 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 1 0.784 . . . . . 0.451 . 0.653 . HET 0.27 rs745742336 . . . . . . . . . . . . X.48 . . V.26 4.III . 0.000000 . . . Name\x3dnsv726 . . 0.724 . . 4.III 0 4.078e-06 0 0 0 0 0 0 3.253e-05 . . . . . . . . . . 0.854 . 2.729 2.729000 . . 0.000000 . . 1.0000000000000001E-226 1.000 0.715 . 0.888 0.999 . 0.276 . 0.713 2.729 -0.045 . . . . . 1 1538 10 1/0 0,224,255 +rs745742336 12 58217396 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217396 58217396 Chr12(GRCh37):g.58217396G>A *996 *996 NR_029847.1:n.*996C>T p.? p.? 1 613057 rs745742336 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 245236 15208 33540 9824 17236 30740 111152 22074 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes transition C T C>T 1.000 2.223 226 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C805T:p.R269W . . 0.22962964 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.954 . @ . . . . . 1 0.990 . . 135.0 . . . . . . . . . . 0.6811 0.651 0.681 c . . . . . 7.921e-06 . . . 0 1.148e-05 0 0 0 0 0 6.217e-05 0 9.804e-06 0 0 0 0 0 6.253e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.348 . . exonic exonic exonic . . 0.504 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.467 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.506 0.028 . . 37 . 0.559 . . 0.581 . . . 0.786 0.506 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.753 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 1 0.784 . . . . . 0.451 . 0.653 . HET 0.27 rs745742336 . . . . . . . . . . . . X.48 . . V.26 4.III . 0.000000 . . . Name\x3dnsv726 . . 0.724 . . 4.III 0 4.078e-06 0 0 0 0 0 0 3.253e-05 . . . . . . . . . . 0.854 . 2.729 2.729000 . . 0.000000 . . 1.0000000000000001E-226 1.000 0.715 . 0.888 0.999 . 0.276 . 0.713 2.729 -0.045 . . . . . 1 1538 10 1/0 0,224,255 +rs796238448 12 58217398 A T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217398 58217398 Chr12(GRCh37):g.58217398A>T 803 803 NM_005730.3:c.803T>A p.Leu268Gln p.Leu268Gln 8 608711 113 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs796238448 no no 0 A 0.000000 0 transversion T A T>A 1.000 2.707 L Leu CTG 0.404 Q Gln CAG 0.744 268 11 2 Frog -2 -2 -4 0 0.89 4.IX 10.V 111 85 113 C0 263.50 0.00 Tolerated 0.53 III.39 good 8.87E-1 0.414 224 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.T803A:p.L268Q . . 0.22627737 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.372 . @ . . . . . 1 0.274 . . 137.0 . . . . . . . . . . -0.1012 0.084 -0.101 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . 0.734 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.208 0.008 . . 37 . 0.301 . . 0.072 . . . 0.321 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.279 . . 0.297 . . . . . . 1 0.330 . . . . . 0.655 . 0.721 . HET 0.1 . . . . . . . . . . . . . 14.2626 . . V.26 V.26 . 0.610000 . . . Name\x3dnsv726 . . 0.527 . . V.26 . . . . . . . . . . . . . . . . . . . 0.854 . 2.202 2.202000 . . 0.610000 . . 1.0E-224 1.000 0.715 . 0.888 1.000 . 0.554 . 0.960 2.202 1.062 . . . . . 1 1538 10 1/0 0,224,255 +rs796238448 12 58217398 A T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217398 58217398 Chr12(GRCh37):g.58217398A>T *994 *994 NR_029847.1:n.*994T>A p.? p.? 1 613057 rs796238448 no no 0 A 0.000000 0 transversion T A T>A 1.000 2.707 224 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.T803A:p.L268Q . . 0.22627737 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.372 . @ . . . . . 1 0.274 . . 137.0 . . . . . . . . . . -0.1012 0.084 -0.101 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . 0.734 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.208 0.008 . . 37 . 0.301 . . 0.072 . . . 0.321 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.279 . . 0.297 . . . . . . 1 0.330 . . . . . 0.655 . 0.721 . HET 0.1 . . . . . . . . . . . . . 14.2626 . . V.26 V.26 . 0.610000 . . . Name\x3dnsv726 . . 0.527 . . V.26 . . . . . . . . . . . . . . . . . . . 0.854 . 2.202 2.202000 . . 0.610000 . . 1.0E-224 1.000 0.715 . 0.888 1.000 . 0.554 . 0.960 2.202 1.062 . . . . . 1 1538 10 1/0 0,224,255 +rs113750199 12 58217412 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217412 58217412 Chr12(GRCh37):g.58217412G>A 789 789 NM_005730.3:c.789C>T p.Thr263= p.Thr263Thr 8 608711 99 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Dullard phosphatase domain, eukaryotic rs113750199 no no 0 G 0.000000 0 transition C T C>T 1.000 1.820 T Thr ACC 0.361 T Thr ACT 0.243 263 210 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C789T:p.T263T . . 0.18461539 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . I.58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.27 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs113750199 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . IV.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs113750199 rs113750199 1 1538 10 1/0 0,222,255 +rs113750199 12 58217412 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217412 58217412 Chr12(GRCh37):g.58217412G>A *980 *980 NR_029847.1:n.*980C>T p.? p.? 1 613057 rs113750199 no no 0 G 0.000000 0 transition C T C>T 1.000 1.820 210 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C789T:p.T263T . . 0.18461539 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . I.58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.27 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs113750199 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . IV.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs113750199 rs113750199 1 1538 10 1/0 0,222,255 +rs768899988 12 58217421 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217421 58217421 Chr12(GRCh37):g.58217421G>A 780 780 NM_005730.3:c.780C>T p.Asp260= p.Asp260Asp 8 608711 90 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs768899988 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245770 15266 33572 9840 17238 30774 111410 22208 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 72 Exomes COSM5765676 Large intestine 0.000448 2231 transition C T C>T 1.000 0.851 D Asp GAC 0.539 D Asp GAT 0.461 260 184 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C780T:p.D260D . . 0.12230216 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . . . . . . . . . 1.1835 . . . . . . . . 7.910e-06 . . . . . . . . . . . 0 9.633e-06 0 0 0 0 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs768899988 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . 0 8.138e-06 0 0 0 0 1.795e-05 0 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs768899988 12 58217421 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217421 58217421 Chr12(GRCh37):g.58217421G>A *971 *971 NR_029847.1:n.*971C>T p.? p.? 1 613057 rs768899988 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245770 15266 33572 9840 17238 30774 111410 22208 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 72 Exomes COSM5765676 Large intestine 0.000448 2231 transition C T C>T 1.000 0.851 184 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C780T:p.D260D . . 0.12230216 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . . . . . . . . . 1.1835 . . . . . . . . 7.910e-06 . . . . . . . . . . . 0 9.633e-06 0 0 0 0 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs768899988 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . 0 8.138e-06 0 0 0 0 1.795e-05 0 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs797007497 12 58217422 T C - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217422 58217422 Chr12(GRCh37):g.58217422T>C 779 779 NM_005730.3:c.779A>G p.Asp260Gly p.Asp260Gly 8 608711 89 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs797007497 no no 0 T 0.000000 0 transition A G A>G 1.000 4.644 D Asp GAC 0.539 G Gly GGC 0.342 260 11 7 Frog -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 221.85 III.24 Tolerated 0.14 III.61 good 4.008E-2 0.01046 219 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.A779G:p.D260G . . 0.21167883 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.615 . @ . . . . . 1 0.909 . . 137.0 . . . . . . . . . . 0.9156 0.828 0.916 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.734 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.638 0.049 . . 37 . 0.671 . . 0.805 . . . 0.912 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.829 . . 0 0 0 0 0 0 . 0.451 . . 0.604 . . . . . . 1 0.721 . . . . . 0.655 . 0.931 . HET 0.01 . . . . . . . . . . . . . 14.2626 . . V.26 V.26 . 0.000000 . . . Name\x3dnsv726 . . 0.761 . . V.26 . . . . . . . . . . . . . . . . . . . 0.854 . 2.202 2.202000 . . 0.000000 . . 1.0E-219 1.000 0.715 . 0.377 0.991 . 0.871 . 0.807 2.202 0.991 . . . . . 1 1538 10 1/0 0,222,255 +rs797007497 12 58217422 T C - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217422 58217422 Chr12(GRCh37):g.58217422T>C *970 *970 NR_029847.1:n.*970A>G p.? p.? 1 613057 rs797007497 no no 0 T 0.000000 0 transition A G A>G 1.000 4.644 219 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.A779G:p.D260G . . 0.21167883 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.615 . @ . . . . . 1 0.909 . . 137.0 . . . . . . . . . . 0.9156 0.828 0.916 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.734 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.638 0.049 . . 37 . 0.671 . . 0.805 . . . 0.912 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.829 . . 0 0 0 0 0 0 . 0.451 . . 0.604 . . . . . . 1 0.721 . . . . . 0.655 . 0.931 . HET 0.01 . . . . . . . . . . . . . 14.2626 . . V.26 V.26 . 0.000000 . . . Name\x3dnsv726 . . 0.761 . . V.26 . . . . . . . . . . . . . . . . . . . 0.854 . 2.202 2.202000 . . 0.000000 . . 1.0E-219 1.000 0.715 . 0.377 0.991 . 0.871 . 0.807 2.202 0.991 . . . . . 1 1538 10 1/0 0,222,255 +rs762231419 12 58217433 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217433 58217433 Chr12(GRCh37):g.58217433G>A 768 768 NM_005730.3:c.768C>T p.Ser256= p.Ser256Ser 8 608711 78 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 X.02 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs762231419 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000149 0.000000 0.000174 0.000000 0.000000 0.000000 0.000000 0.000174 8 0 5 0 3 0 0 0 0 245780 15272 33566 9834 17246 30762 111420 22206 5474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 5 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes COSM1989984 Large intestine 0.000896 2231 transition C T C>T 0.362 -0.924 S Ser AGC 0.243 S Ser AGT 0.149 256 179 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C768T:p.S256S . . 0.11111111 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . 0.8657 . . . . . . . . 1.581e-05 . . . 0 2.249e-05 8.769e-05 0.0002 0 0 0 0 0 1.918e-05 9.043e-05 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs762231419 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . 0 3.255e-05 0.0001 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs762231419 12 58217433 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217433 58217433 Chr12(GRCh37):g.58217433G>A *959 *959 NR_029847.1:n.*959C>T p.? p.? 1 613057 rs762231419 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000149 0.000000 0.000174 0.000000 0.000000 0.000000 0.000000 0.000174 8 0 5 0 3 0 0 0 0 245780 15272 33566 9834 17246 30762 111420 22206 5474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 5 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes COSM1989984 Large intestine 0.000896 2231 transition C T C>T 0.362 -0.924 179 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C768T:p.S256S . . 0.11111111 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . 0.8657 . . . . . . . . 1.581e-05 . . . 0 2.249e-05 8.769e-05 0.0002 0 0 0 0 0 1.918e-05 9.043e-05 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs762231419 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . 0 3.255e-05 0.0001 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796243823 12 58217438 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217438 58217438 Chr12(GRCh37):g.58217438G>T 763 763 NM_005730.3:c.763C>A p.Leu255Met p.Leu255Met 8 608711 73 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 XI.83 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796243823 no no 0 G 0.000000 0 transversion C A C>A 0.961 0.125 L Leu CTG 0.404 M Met ATG 1.000 255 11 10 Baker's yeast 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 234.72 XII.95 Deleterious 0 III.39 bad 7.401E-3 8.665E-5 177 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C763A:p.L255M . . 0.10655738 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.575 . @ . . . . . 1 0.509 . . 122.0 . . . . . . . . . . -0.2226 -0.324 -0.223 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.042 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 0.996 0.345 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.577 0.037 . . 37 . 0.417 . . 0.405 . . . 0.699 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.444 . . 0 0 0 0 0 0 . 0.899 . . 0.782 . . . . . . 1 0.586 . . . . . 0.883 . 0.743 . LowAF 0.02 . . . . . . . . . . . . . 17.77 . . V.26 -3.68 . 0.010000 . . . Name\x3dnsv726 . . 0.549 . . . . . . . . . . . . . . . . . . . . . . 0.854 . -0.994 -0.994000 . . 0.010000 . . 1.0E-177 0.981 0.351 . 0.461 0.986 . 0.383 . 0.041 -0.994 -0.011 . . . . . 1 1538 10 1/0 0,218,255 +rs796243823 12 58217438 G T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217438 58217438 Chr12(GRCh37):g.58217438G>T *954 *954 NR_029847.1:n.*954C>A p.? p.? 1 613057 rs796243823 no no 0 G 0.000000 0 transversion C A C>A 0.961 0.125 177 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C763A:p.L255M . . 0.10655738 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.575 . @ . . . . . 1 0.509 . . 122.0 . . . . . . . . . . -0.2226 -0.324 -0.223 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.042 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 0.996 0.345 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.577 0.037 . . 37 . 0.417 . . 0.405 . . . 0.699 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.444 . . 0 0 0 0 0 0 . 0.899 . . 0.782 . . . . . . 1 0.586 . . . . . 0.883 . 0.743 . LowAF 0.02 . . . . . . . . . . . . . 17.77 . . V.26 -3.68 . 0.010000 . . . Name\x3dnsv726 . . 0.549 . . . . . . . . . . . . . . . . . . . . . . 0.854 . -0.994 -0.994000 . . 0.010000 . . 1.0E-177 0.981 0.351 . 0.461 0.986 . 0.383 . 0.041 -0.994 -0.011 . . . . . 1 1538 10 1/0 0,218,255 +rs200753070 12 58217439 C G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217439 58217439 Chr12(GRCh37):g.58217439C>G 762 762 NM_005730.3:c.762G>C p.Glu254Asp p.Glu254Asp 8 608711 72 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 X.25 0 NLI interacting factor Dullard phosphatase domain, eukaryotic transversion G C G>C 0.961 0.044 E Glu GAG 0.583 D Asp GAC 0.539 254 11 7 Frog 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 242.39 0.00 Tolerated 0.49 III.39 good 7.371E-1 0.02335 174 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.G762C:p.E254D . . 0.10169491 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.134 . . 118.0 . . . . . . . . . . -0.9892 -0.835 -0.989 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.182 0.0004 . . . 0.58 0.38 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 0.984 0.306 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.078 0.003 . . 37 . 0.058 . . 0.405 . . . 0.153 0.451 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.283 . . 0 0 0 0 0 0 . 0.119 . . 0.188 . . . . . . 1 0.039 . . . . . 0.365 . 0.285 . LowAF 1 . . . . . . . . . . . . . IX.49 . . V.26 0.884 . 1.000000 . . . Name\x3dnsv726 . . 0.270 . . . . . . . . . . . . . . . . . . . . . . 0.854 . 0.236 0.236000 . . 1.000000 . . 1.0E-174 0.005 0.169 . 0.483 0.993 . 0.037 . 0.171 0.236 0.871 . . . . . 1 1538 10 1/0 0,219,255 +rs200753070 12 58217439 C G - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217439 58217439 Chr12(GRCh37):g.58217439C>G *953 *953 NR_029847.1:n.*953G>C p.? p.? 1 613057 transversion G C G>C 0.961 0.044 174 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.G762C:p.E254D . . 0.10169491 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.134 . . 118.0 . . . . . . . . . . -0.9892 -0.835 -0.989 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.182 0.0004 . . . 0.58 0.38 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 0.984 0.306 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.078 0.003 . . 37 . 0.058 . . 0.405 . . . 0.153 0.451 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.283 . . 0 0 0 0 0 0 . 0.119 . . 0.188 . . . . . . 1 0.039 . . . . . 0.365 . 0.285 . LowAF 1 . . . . . . . . . . . . . IX.49 . . V.26 0.884 . 1.000000 . . . Name\x3dnsv726 . . 0.270 . . . . . . . . . . . . . . . . . . . . . . 0.854 . 0.236 0.236000 . . 1.000000 . . 1.0E-174 0.005 0.169 . 0.483 0.993 . 0.037 . 0.171 0.236 0.871 . . . . . 1 1538 10 1/0 0,219,255 +rs78662830 12 58217705 T G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217705 58217705 Chr12(GRCh37):g.58217705T>G 672 672 NM_005730.3:c.672A>C p.Ile224= p.Ile224Ile 7 608711 -19 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 9.0541 0 Cryptic Acceptor Strongly Activated 58217692 0.721434 6.7e-05 71.4246 I.99 0.000254 71.4246 NLI interacting factor Dullard phosphatase domain, eukaryotic rs78662830 no no 0 T 0.000000 0 COSM4147352|COSM4147352 Thyroid|Large intestine 0.001339|0.000448 747|2231 transversion A C A>C 1.000 1.577 I Ile ATA 0.163 I Ile ATC 0.481 224 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.A672C:p.I224I . . 0.37692308 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . I.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.46 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs78662830 . . . . . . ID\x3dCOSM4147352\x3bOCCURENCE\x3d1(thyroid) . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . III.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78662830 rs78662830 1 1538 10 1/0 0,237,255 +rs78662830 12 58217705 T G - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217705 58217705 Chr12(GRCh37):g.58217705T>G *687 *687 NR_029847.1:n.*687A>C p.? p.? 1 613057 rs78662830 no no 0 T 0.000000 0 COSM4147352|COSM4147352 Thyroid|Large intestine 0.001339|0.000448 747|2231 transversion A C A>C 1.000 1.577 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.A672C:p.I224I . . 0.37692308 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . I.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.46 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs78662830 . . . . . . ID\x3dCOSM4147352\x3bOCCURENCE\x3d1(thyroid) . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . III.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78662830 rs78662830 1 1538 10 1/0 0,237,255 +. 12 58217736 AGG A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 deletion frameshift exon GRCh37 58217737 58217738 Chr12(GRCh37):g.58217737_58217738del 639 640 NM_005730.3:c.639_640del p.Leu214Hisfs*24 p.Leu214Hisfs*24 7 608711 -51 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 7.09888 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs77145290 no no 0 0.000000 0 CC 255 Pass . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.639_640del:p.T213fs . . 0.24867725 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77145290 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77145290 rs77145290 1 1538 10 1.I 0,9,60 +. 12 58217736 AGG A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 deletion downstream GRCh37 58217737 58217738 Chr12(GRCh37):g.58217737_58217738del *654 *655 NR_029847.1:n.*654_*655del p.? p.? 1 613057 rs77145290 no no 0 0.000000 0 CC 255 Pass . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.639_640del:p.T213fs . . 0.24867725 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77145290 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77145290 rs77145290 1 1538 10 1.I 0,9,60 +rs192597051 12 58217738 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217738 58217738 Chr12(GRCh37):g.58217738G>A 639 639 NM_005730.3:c.639C>T p.Thr213= p.Thr213Thr 7 608711 -52 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.85626 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs192597051 yes no Frequency 1 G 0.000000 0 COSM5765519 Large intestine 0.000896 2231 transition C T C>T 1.000 0.770 T Thr ACC 0.361 T Thr ACT 0.243 213 254 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C639T:p.T213T . . 0.25 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . I.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.5 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs192597051 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs192597051 rs192597051 1 1538 10 1/0 0,237,255 +rs192597051 12 58217738 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217738 58217738 Chr12(GRCh37):g.58217738G>A *654 *654 NR_029847.1:n.*654C>T p.? p.? 1 613057 rs192597051 yes no Frequency 1 G 0.000000 0 COSM5765519 Large intestine 0.000896 2231 transition C T C>T 1.000 0.770 254 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C639T:p.T213T . . 0.25 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . I.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.5 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs192597051 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs192597051 rs192597051 1 1538 10 1/0 0,237,255 +rs74568739 12 58217741 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217741 58217741 Chr12(GRCh37):g.58217741C>T 636 636 NM_005730.3:c.636G>A p.Lys212= p.Lys212Lys 7 608711 -55 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 7.93659 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs74568739 no no 0 C 0.000000 0 transition G A G>A 1.000 1.013 K Lys AAG 0.575 K Lys AAA 0.425 212 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G636A:p.K212K . . 0.484375 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.279 . @ . . . . . 2 0.182 . . 192.0 . . . . . . . . . . -0.2398 -0.221 -0.240 c . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic\x3bsplicing exonic\x3bsplicing exonic . . 0.304 @ . . . 0.6 0.39 182 ENSG00000175215\x3bENSG00000175215 CTDSP2\x3bCTDSP2 CTDSP2 ENST00000548823:exon3:c.118-1G>A uc009zqg.3:exon3:c.118-1G>A . 0.999 0.397 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.293 . . . HET . rs74568739 . . . . . . . . . . . . 8.0053 . ENST00000548823 V.18 II.64 . . . . . Name\x3dnsv726 . . 0.271 . . II.64 . . . . . . . . . . . . . . . . . . . 0.522 . 0.364 0.364000 . . . . . 1.0E-255 0.860 0.304 . 0.529 0.998 . 0.109 . 0.134 0.364 0.021 . . . rs74568739 rs74568739 1 1538 10 1/0 0,227,241 +rs74568739 12 58217741 C T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217741 58217741 Chr12(GRCh37):g.58217741C>T *651 *651 NR_029847.1:n.*651G>A p.? p.? 1 613057 rs74568739 no no 0 C 0.000000 0 transition G A G>A 1.000 1.013 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G636A:p.K212K . . 0.484375 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.279 . @ . . . . . 2 0.182 . . 192.0 . . . . . . . . . . -0.2398 -0.221 -0.240 c . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic\x3bsplicing exonic\x3bsplicing exonic . . 0.304 @ . . . 0.6 0.39 182 ENSG00000175215\x3bENSG00000175215 CTDSP2\x3bCTDSP2 CTDSP2 ENST00000548823:exon3:c.118-1G>A uc009zqg.3:exon3:c.118-1G>A . 0.999 0.397 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.293 . . . HET . rs74568739 . . . . . . . . . . . . 8.0053 . ENST00000548823 V.18 II.64 . . . . . Name\x3dnsv726 . . 0.271 . . II.64 . . . . . . . . . . . . . . . . . . . 0.522 . 0.364 0.364000 . . . . . 1.0E-255 0.860 0.304 . 0.529 0.998 . 0.109 . 0.134 0.364 0.021 . . . rs74568739 rs74568739 1 1538 10 1/0 0,227,241 +rs79510860 12 58217744 T C - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217744 58217744 Chr12(GRCh37):g.58217744T>C 633 633 NM_005730.3:c.633A>G p.Arg211= p.Arg211Arg 7 608711 -58 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.85243 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs79510860 no no 0 C 0.000000 0 transition A G A>G 0.992 0.044 R Arg AGA 0.205 R Arg AGG 0.207 211 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.A633G:p.R211R . . 0.48205128 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 195.0 . . . . . . . . . . -0.2002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.43 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79510860 . . . . . . . . . . . . VI.15 . ENST00000550144 V.19 III.31 . . . . . Name\x3dnsv726 . . . . . III.31 . . . . . . . . . . . . . . . . . . . . . 0.328 0.328000 . . . . . 1.0E-255 . . . . . . . . . 0.328 . . . . rs79510860 rs79510860 1 1538 10 1/0 0,226,240 +rs79510860 12 58217744 T C - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217744 58217744 Chr12(GRCh37):g.58217744T>C *648 *648 NR_029847.1:n.*648A>G p.? p.? 1 613057 rs79510860 no no 0 C 0.000000 0 transition A G A>G 0.992 0.044 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.A633G:p.R211R . . 0.48205128 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 195.0 . . . . . . . . . . -0.2002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.43 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79510860 . . . . . . . . . . . . VI.15 . ENST00000550144 V.19 III.31 . . . . . Name\x3dnsv726 . . . . . III.31 . . . . . . . . . . . . . . . . . . . . . 0.328 0.328000 . . . . . 1.0E-255 . . . . . . . . . 0.328 . . . . rs79510860 rs79510860 1 1538 10 1/0 0,226,240 +rs796729342 12 58217762 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217762 58217762 Chr12(GRCh37):g.58217762G>A 615 615 NM_005730.3:c.615C>T p.Arg205= p.Arg205Arg 7 608711 -76 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.28166 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796729342 no no 0 G 0.000000 0 transition C T C>T 0.992 0.125 R Arg CGC 0.190 R Arg CGT 0.082 205 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C615T:p.R205R . . 0.49758455 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 207.0 . . . . . . . . . . -0.1676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . V.62 . ENST00000550144 V.56 II.56 . . . . . Name\x3dnsv726 . . . . . II.56 . . . . . . . . . . . . . . . . . . . . . 0.915 0.915000 . . . . . 1.0E-255 . . . . . . . . . 0.915 . . . . . . 1 1538 10 1/0 0,226,241 +rs796729342 12 58217762 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217762 58217762 Chr12(GRCh37):g.58217762G>A *630 *630 NR_029847.1:n.*630C>T p.? p.? 1 613057 rs796729342 no no 0 G 0.000000 0 transition C T C>T 0.992 0.125 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C615T:p.R205R . . 0.49758455 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 207.0 . . . . . . . . . . -0.1676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . V.62 . ENST00000550144 V.56 II.56 . . . . . Name\x3dnsv726 . . . . . II.56 . . . . . . . . . . . . . . . . . . . . . 0.915 0.915000 . . . . . 1.0E-255 . . . . . . . . . 0.915 . . . . . . 1 1538 10 1/0 0,226,241 +rs796989809 12 58217763 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217763 58217763 Chr12(GRCh37):g.58217763C>T 614 614 NM_005730.3:c.614G>A p.Arg205His p.Arg205His 7 608711 -77 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.20921 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796989809 no no 0 C 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30920 8712 838 302 1622 0 14970 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 1.000 3.192 R Arg CGC 0.190 H His CAC 0.587 205 11 9 C. elegans 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 241.31 I.62 Deleterious 0.01 III.39 good 3.141E-2 0.001376 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G614A:p.R205H . . 0.3546798 . . @ 72 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.916 . @ . . . . . 1 0.979 . . 203.0 . . . . . . . . . . 0.1933 0.200 0.193 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.176 . . exonic exonic exonic . . 0.421 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.667 0.057 . . 37 . 0.332 . . 0.155 . . . 0.748 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.774 . . 0 0 0 0 0 0 . 0.629 . . 0.541 . . . . . . 1 0.491 . . . . . 0.467 . 0.394 . HET 0.01 . . . . . . . . . . . . . 11.0053 . . V.56 III.75 . 0.000000 . . . Name\x3dnsv726 . . 0.594 . . III.75 . . . . . . . . . 0 3.234e-05 0 0 0 0 6.68e-05 0 . . 0.522 . 0.916 0.916000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.701 . 0.490 0.916 0.871 . . . . . 1 1538 10 1/0 0,217,253 +rs796989809 12 58217763 C T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217763 58217763 Chr12(GRCh37):g.58217763C>T *629 *629 NR_029847.1:n.*629G>A p.? p.? 1 613057 rs796989809 no no 0 C 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30920 8712 838 302 1622 0 14970 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 1.000 3.192 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G614A:p.R205H . . 0.3546798 . . @ 72 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.916 . @ . . . . . 1 0.979 . . 203.0 . . . . . . . . . . 0.1933 0.200 0.193 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.176 . . exonic exonic exonic . . 0.421 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.667 0.057 . . 37 . 0.332 . . 0.155 . . . 0.748 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.774 . . 0 0 0 0 0 0 . 0.629 . . 0.541 . . . . . . 1 0.491 . . . . . 0.467 . 0.394 . HET 0.01 . . . . . . . . . . . . . 11.0053 . . V.56 III.75 . 0.000000 . . . Name\x3dnsv726 . . 0.594 . . III.75 . . . . . . . . . 0 3.234e-05 0 0 0 0 6.68e-05 0 . . 0.522 . 0.916 0.916000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.701 . 0.490 0.916 0.871 . . . . . 1 1538 10 1/0 0,217,253 +rs796106620 12 58217770 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217770 58217770 Chr12(GRCh37):g.58217770G>T 607 607 NM_005730.3:c.607C>A p.Leu203Ile p.Leu203Ile 7 608711 -84 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.71597 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796106620 no no 0 G 0.000000 0 transversion C A C>A 1.000 4.160 L Leu CTC 0.197 I Ile ATC 0.481 203 11 10 Baker's yeast 2 2 2 0 0 4.IX 5.II 111 111 5 C0 234.72 IV.86 Deleterious 0 III.39 bad 9.979E-4 8.665E-5 122 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C607A:p.L203I . . 0.1770335 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.902 . @ . . . . . 1 0.739 . . 209.0 . . . . . . . . . . 0.6041 0.632 0.604 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.836 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.752 0.088 . . 37 . 0.843 . . 0.863 . . . 0.925 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.459 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.906 . 0.722 . HET 0 . . . . . . . . . . . . . 18.4399 . ENST00000550144 V.56 V.56 . 0.000000 . . . Name\x3dnsv726 . . 0.671 . . V.56 . . . . . . . . . . . . . . . . . . . 0.522 . 2.890 2.890000 . . 0.000000 . . 1.0E-122 1.000 0.715 . 0.888 1.000 . 0.692 . 0.713 2.890 0.917 . . . . . 1 1538 10 1/0 0,208,255 +rs796106620 12 58217770 G T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217770 58217770 Chr12(GRCh37):g.58217770G>T *622 *622 NR_029847.1:n.*622C>A p.? p.? 1 613057 rs796106620 no no 0 G 0.000000 0 transversion C A C>A 1.000 4.160 122 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C607A:p.L203I . . 0.1770335 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.902 . @ . . . . . 1 0.739 . . 209.0 . . . . . . . . . . 0.6041 0.632 0.604 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.836 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.752 0.088 . . 37 . 0.843 . . 0.863 . . . 0.925 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.459 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.906 . 0.722 . HET 0 . . . . . . . . . . . . . 18.4399 . ENST00000550144 V.56 V.56 . 0.000000 . . . Name\x3dnsv726 . . 0.671 . . V.56 . . . . . . . . . . . . . . . . . . . 0.522 . 2.890 2.890000 . . 0.000000 . . 1.0E-122 1.000 0.715 . 0.888 1.000 . 0.692 . 0.713 2.890 0.917 . . . . . 1 1538 10 1/0 0,208,255 +rs113792624 12 58217774 C A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217774 58217774 Chr12(GRCh37):g.58217774C>A 603 603 NM_005730.3:c.603G>T p.Lys201Asn p.Lys201Asn 7 608711 -88 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.71597 0 Cryptic Acceptor Strongly Activated 58217765 0.002216 1.44268 0.020516 67.7026 NLI interacting factor Dullard phosphatase domain, eukaryotic rs113792624 no no 0 C 0.000000 0 COSM5765533 Large intestine 0.000896 2231 transversion G T G>T 1.000 2.546 K Lys AAG 0.575 N Asn AAT 0.464 201 11 10 Baker's yeast 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 238.71 IV.86 Deleterious 0 III.39 bad 1.396E-3 9.786E-5 229 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G603T:p.K201N . . 0.24019608 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.955 . . 204.0 . . . . . . . . . . 1.0039 0.880 1.004 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.836 @ . . . 0.6 0.34 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.888 0.243 . . 37 . 0.833 . . 0.906 . . . 0.993 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.906 . 0.697 . HET 0 rs113792624 . . . . . . . . . . . . 18.4399 . . V.56 V.56 . 0.000000 . . . Name\x3dnsv726 . . 0.537 . . V.56 . . . . . . . . . . . . . . . . . . . 0.522 . 2.890 2.890000 . . 0.000000 . . 1.0E-229 1.000 0.715 . 0.888 1.000 . 0.438 . 0.490 2.890 0.871 . . . rs113792624 rs113792624 1 1538 10 1/0 0,208,255 +rs113792624 12 58217774 C A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217774 58217774 Chr12(GRCh37):g.58217774C>A *618 *618 NR_029847.1:n.*618G>T p.? p.? 1 613057 rs113792624 no no 0 C 0.000000 0 COSM5765533 Large intestine 0.000896 2231 transversion G T G>T 1.000 2.546 229 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G603T:p.K201N . . 0.24019608 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.955 . . 204.0 . . . . . . . . . . 1.0039 0.880 1.004 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.836 @ . . . 0.6 0.34 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.888 0.243 . . 37 . 0.833 . . 0.906 . . . 0.993 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.906 . 0.697 . HET 0 rs113792624 . . . . . . . . . . . . 18.4399 . . V.56 V.56 . 0.000000 . . . Name\x3dnsv726 . . 0.537 . . V.56 . . . . . . . . . . . . . . . . . . . 0.522 . 2.890 2.890000 . . 0.000000 . . 1.0E-229 1.000 0.715 . 0.888 1.000 . 0.438 . 0.490 2.890 0.871 . . . rs113792624 rs113792624 1 1538 10 1/0 0,208,255 +rs111421573 12 58217780 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217780 58217780 Chr12(GRCh37):g.58217780G>A 597 597 NM_005730.3:c.597C>T p.Tyr199= p.Tyr199Tyr 7 608711 93 3' 78.9264 6.96245 0.990222 X.41 78.9264 6.96245 0.990222 X.41 0 Cryptic Acceptor Strongly Activated 58217773 0.00324 69.8019 0.164598 0.008289 71.3126 NLI interacting factor Dullard phosphatase domain, eukaryotic rs111421573 yes no Frequency 1 G 0.000000 0 0.000028 0.000065 0.000000 0.000203 0.000058 0.000000 0.000027 0.000000 0.000000 0.000203 7 1 0 2 1 0 3 0 0 245894 15276 33566 9838 17246 30778 111434 22288 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 2 1 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transition C T C>T 0.992 -0.037 Y Tyr TAC 0.562 Y Tyr TAT 0.438 199 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C597T:p.Y199Y . . 0.4784689 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . -0.5667 . . . . . . . . 7.950e-06 . . . 0 1.116e-05 0 0.0002 0 0 0 0 0 9.502e-06 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.42 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs111421573 . . . . . . . . . . . . 19.7965 . ENST00000550144 V.56 -7.42 . . . . . Name\x3dnsv726 . . . . . . 6.546e-05 2.847e-05 0 0.0002 5.798e-05 0 2.692e-05 0 0 . . . . . . . . . . . . -1.229 -1.229000 . . . . . 1.0E-255 . . . . . . . . . -1.229 . . . . rs111421573 rs111421573 1 1538 10 1/0 0,225,243 +rs111421573 12 58217780 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217780 58217780 Chr12(GRCh37):g.58217780G>A *612 *612 NR_029847.1:n.*612C>T p.? p.? 1 613057 rs111421573 yes no Frequency 1 G 0.000000 0 0.000028 0.000065 0.000000 0.000203 0.000058 0.000000 0.000027 0.000000 0.000000 0.000203 7 1 0 2 1 0 3 0 0 245894 15276 33566 9838 17246 30778 111434 22288 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 2 1 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transition C T C>T 0.992 -0.037 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C597T:p.Y199Y . . 0.4784689 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . -0.5667 . . . . . . . . 7.950e-06 . . . 0 1.116e-05 0 0.0002 0 0 0 0 0 9.502e-06 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.42 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs111421573 . . . . . . . . . . . . 19.7965 . ENST00000550144 V.56 -7.42 . . . . . Name\x3dnsv726 . . . . . . 6.546e-05 2.847e-05 0 0.0002 5.798e-05 0 2.692e-05 0 0 . . . . . . . . . . . . -1.229 -1.229000 . . . . . 1.0E-255 . . . . . . . . . -1.229 . . . . rs111421573 rs111421573 1 1538 10 1/0 0,225,243 +rs113533986 12 58220784 A T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220784 58220784 Chr12(GRCh37):g.58220784A>T 349 349 NM_005730.3:c.349T>A p.Phe117Ile p.Phe117Ile 4 608711 -6 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992934 3.44866 0.000180035 NLI interacting factor Dullard phosphatase domain, eukaryotic rs113533986 no no 0 A 0.000000 0 transversion T A T>A 1.000 4.644 F Phe TTT 0.454 I Ile ATT 0.356 117 11 11 Baker's yeast 0 0 -1 0 0 5.II 5.II 132 111 21 C15 0.00 21.28 Deleterious 0 III.37 bad 6.711E-3 0.0003092 215 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.T349A:p.F117I CTDSP2:uc001sqm.3:exon4:c.T349A:p.F117I CTDSP2:NM_005730:exon4:c.T349A:p.F117I . . 0.1986755 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.797 . @ . . . . . 1 0.550 . . 151.0 . . . . . . . . . . 0.5351 0.501 0.535 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.174 . . exonic exonic exonic . . 0.640 @ . . . 0.75 0.52 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.569 0.036 . . 37 . 0.848 . . 0.890 . . . 0.895 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.877 . . 0 0 0 0 0 0 . 0.689 . . 0.695 . . . . . . 0 0.912 . . . . . 0.635 . 0.686 . HET 0 rs113533986 . . . . . . . . . . . . 13.9525 . ENST00000550144 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.812 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.830 . 2.193 2.193000 . . 0.000000 . . 1.0E-215 1.000 0.715 . 0.750 0.998 . 0.940 . 0.960 2.193 1.062 . . . rs113533986 rs113533986 1 1538 10 1/0 0,217,255 +rs757239164 12 58220801 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220801 58220801 Chr12(GRCh37):g.58220801G>T 332 332 NM_005730.3:c.332C>A p.Thr111Asn p.Thr111Asn 4 608711 -23 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 2.96712 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs757239164 yes no Frequency 1 G 0.000000 0 COSM5482778|COSM5482778 Lung|Large intestine 0.000419|0.000448 2388|2231 transversion C A C>A 1.000 5.613 T Thr ACC 0.361 N Asn AAC 0.536 111 11 11 Baker's yeast 0 0 0 0.71 I.33 8.VI 11.VI 61 56 65 C55 0.00 64.77 Deleterious 0 III.37 bad 2.204E-4 2.327E-5 181 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.C332A:p.T111N CTDSP2:uc001sqm.3:exon4:c.C332A:p.T111N CTDSP2:NM_005730:exon4:c.C332A:p.T111N . . 0.11515152 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.846 . @ . . . . . 1 0.644 . . 165.0 . . . . . . . . . . 1.1526 1.003 1.153 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.773 0.100 . . 37 . 0.837 . . 0.916 . . . 0.993 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.912 . . . . . 0.873 . 0.644 . LowAF 0 . . . . . . . . . . . . . 17.3988 . ENST00000398073 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.834 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.717 2.717000 . . 0.000000 . . 1.0E-181 1.000 0.715 . 0.888 0.998 . 0.984 . 0.713 2.717 0.917 . . . . . 1 1538 10 1/0 0,206,255 +rs78691025 12 58220809 G C - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58220809 58220809 Chr12(GRCh37):g.58220809G>C 324 324 NM_005730.3:c.324C>G p.Leu108= p.Leu108Leu 4 608711 -31 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 II.46 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs78691025 yes no Frequency 1 G 0.000000 0 transversion C G C>G 1.000 2.223 L Leu CTC 0.197 L Leu CTG 0.404 108 217 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.C324G:p.L108L CTDSP2:uc001sqm.3:exon4:c.C324G:p.L108L CTDSP2:NM_005730:exon4:c.C324G:p.L108L . . 0.55625 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 160.0 . . . . . . . . . . -0.1083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.74 0.45 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78691025 . . . . . . . . . . . . 10.0445 . ENST00000550144 IV.92 3.VI . . . . . Name\x3dnsv726 . . . . . 3.VI . . . . . . . . . . . . . . . . . . . . . 0.762 0.762000 . . . . . 1.0E-217 . . . . . . . . . 0.762 . . . . rs78691025 rs78691025 1 1538 10 1/0 0,249,251 +rs796375970 12 58220811 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220811 58220811 Chr12(GRCh37):g.58220811G>T 322 322 NM_005730.3:c.322C>A p.Leu108Ile p.Leu108Ile 4 608711 -33 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 3.46633 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796375970 no no 0 G 0.000000 0 COSM5021762|COSM5021762 Large intestine|Bone 0.000448|0.001757 2231|569 transversion C A C>A 1.000 1.093 L Leu CTC 0.197 I Ile ATC 0.481 108 11 11 Baker's yeast 2 2 2 0 0 4.IX 5.II 111 111 5 C0 0.00 IV.86 Deleterious 0 III.37 bad 9.979E-4 8.665E-5 211 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.C322A:p.L108I CTDSP2:uc001sqm.3:exon4:c.C322A:p.L108I CTDSP2:NM_005730:exon4:c.C322A:p.L108I . . 0.1875 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.757 . @ . . . . . 1 0.631 . . 160.0 . . . . . . . . . . 0.1882 0.092 0.188 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.178 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.439 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.749 0.087 . . 37 . 0.850 . . 0.854 . . . 0.966 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.446 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.784 . . . . . 0.427 . 0.744 . HET 0 . . . . . . . . . . . . . 10.305 . ENST00000550144 IV.92 0.817 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.510 . . . . . . . . . . . . . . . . . . . . . . 0.522 . 0.040 0.040000 . . 0.000000 . . 1.0E-211 0.998 0.411 . 0.888 0.997 . 0.222 . 0.219 0.040 -0.011 . . . . . 1 1538 10 1/0 0,214,255 +rs76940645 12 58220816 A G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220816 58220816 Chr12(GRCh37):g.58220816A>G 317 317 NM_005730.3:c.317T>C p.Ile106Thr p.Ile106Thr 4 608711 -38 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 3.63756 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs76940645 yes no Frequency 1 A 0.000000 0 0.000008 0.000065 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000065 2 1 0 0 0 1 0 0 0 245984 15294 33578 9848 17248 30782 111676 22082 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes transition T C T>C 1.000 4.644 I Ile ATT 0.356 T Thr ACT 0.243 106 11 10 C. elegans -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C65 IV.86 89.28 Deleterious 0.01 III.37 bad 1.397E-4 0.0001727 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.T317C:p.I106T CTDSP2:uc001sqm.3:exon4:c.T317C:p.I106T CTDSP2:NM_005730:exon4:c.T317C:p.I106T . . 0.6603774 . . @ 105 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.688 . @ . . . . . 1 0.905 . . 159.0 . . . . . . . . . . 0.7810 0.739 0.781 c . . . . . 7.981e-06 . . . 0 1.11e-05 0 0 0 0 0 6.06e-05 0 9.473e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.189 . . exonic exonic exonic . . 0.640 @ . . . 0.71 0.53 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.678 0.059 . . 37 . 0.486 . . 0.589 . . . 0.754 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.447 . . 0.548 . . . . . . 0 0.784 . . . . . 0.635 . 0.982 . HET 0 rs76940645 . . . . . . . . . . . . 13.9525 . ENST00000398073 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.811 . . IV.92 6.539e-05 8.131e-06 0 0 0 0 0 0 3.249e-05 . . . . . . . . . . 0.522 . 2.193 2.193000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.940 . 0.960 2.193 1.062 . . . rs76940645 rs76940645 1 1538 10 1/0 0,246,247 +. 12 58220819 A G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220819 58220819 Chr12(GRCh37):g.58220819A>G 314 314 NM_005730.3:c.314T>C p.Val105Ala p.Val105Ala 4 608711 -41 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 3.49649 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs1056200123 no no 0 A 0.000000 0 COSM5763651 Large intestine 0.000448 2231 transition T C T>C 1.000 4.644 V Val GTC 0.240 A Ala GCC 0.403 105 11 10 C. elegans 0 0 -1 0 0 5.IX 8.I 84 31 64 C25 28.68 65.28 Deleterious 0.01 III.37 bad 1.878E-4 0.0009717 188 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.T314C:p.V105A CTDSP2:uc001sqm.3:exon4:c.T314C:p.V105A CTDSP2:NM_005730:exon4:c.T314C:p.V105A . . 0.13095239 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.868 . @ . . . . . 1 0.945 . . 168.0 . . . . . . . . . . 0.8438 0.781 0.844 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.396 . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.692 0.064 . . 37 . 0.693 . . 0.790 . . . 0.855 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.723 . . 0 0 0 0 0 0 . 0.447 . . 0.548 . . . . . . 0 0.912 . . . . . 0.635 . 0.858 . LowAF 0 . . . . . . . . . . . . . 13.9525 . ENST00000398073 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.811 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.193 2.193000 . . 0.000000 . . 1.0E-188 1.000 0.715 . 0.888 1.000 . 0.940 . 0.960 2.193 1.062 . . . . . 1 1538 10 1/0 0,207,255 +rs111346934 12 58220823 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220823 58220823 Chr12(GRCh37):g.58220823C>T 310 310 NM_005730.3:c.310G>A p.Val104Met p.Val104Met 4 608711 -45 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 3.09586 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs111346934 no no 0 C 0.000000 0 transition G A G>A 1.000 2.950 V Val GTG 0.468 M Met ATG 1.000 104 11 7 Tetraodon 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 30.92 0.00 Tolerated 0.42 III.37 good 1.809E-1 0.01283 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.G310A:p.V104M CTDSP2:uc001sqm.3:exon4:c.G310A:p.V104M CTDSP2:NM_005730:exon4:c.G310A:p.V104M . . 0.6585366 . . @ 108 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.487 . @ . . . . . 1 0.471 . . 164.0 . . . . . . . . . . 0.2619 0.362 0.262 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.640 @ . . . 0.73 0.48 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.253 0.010 . . 37 . 0.226 . . 0.015 . . . 0.188 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.353 . . 0.398 . . . . . . 0 0.181 . . . . . 0.462 . 0.551 . HET 0.41 rs111346934 . . . . . . . . . . . . X.17 . ENST00000398073 IV.92 IV.92 . 0.200000 O14595 . . Name\x3dnsv726 . . 0.595 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.717 2.717000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.750 0.998 . 0.631 . 0.490 2.717 0.871 . . . rs111346934 rs111346934 1 1538 10 1/0 0,246,248 +rs747149135 12 58220831 C G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220831 58220831 Chr12(GRCh37):g.58220831C>G 302 302 NM_005730.3:c.302G>C p.Arg101Thr p.Arg101Thr 4 608711 50 3' 74.2179 5.83605 0.866996 2.73927 74.2179 5.83605 0.866996 3.38844 0 NLI interacting factor rs747149135 yes no Frequency 1 C 0.000000 0 COSM5021763|COSM5021763 Large intestine|Bone 0.000896|0.001757 2231|569 transversion G C G>C 1.000 3.192 R Arg AGG 0.207 T Thr ACG 0.116 101 11 7 Fruitfly -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C25 26.00 66.45 Deleterious 0.03 III.37 bad 1.222E-4 0.0002087 149 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.G302C:p.R101T CTDSP2:uc001sqm.3:exon4:c.G302C:p.R101T CTDSP2:NM_005730:exon4:c.G302C:p.R101T . . 0.17283951 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.836 . @ . . . . . 1 0.394 . . 162.0 . . . . . . . . . . 0.5691 0.568 0.569 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.176 . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.414 0.019 . . 37 . 0.344 . . 0.289 . . . 0.775 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.395 . . 0.450 . . . . . . 0 0.784 . . . . . 0.462 . 0.478 . HET 0 . . . . . . . . . . . . . X.17 . ENST00000398073 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.576 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.717 2.717000 . . 0.000000 . . 1.0E-149 1.000 0.715 . 0.888 1.000 . 0.534 . 0.490 2.717 0.871 . . . . . 1 1538 10 1/0 0,216,255 +rs74343811 12 58220841 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220841 58220841 Chr12(GRCh37):g.58220841C>T 292 292 NM_005730.3:c.292G>A p.Asp98Asn p.Asp98Asn 4 608711 40 3' 74.2179 5.83605 0.866996 2.73927 74.2179 5.83605 0.866996 2.66681 0 NLI interacting factor rs74343811 no no 0 C 0.000000 0 COSM4147353 Thyroid 0.001339 747 transition G A G>A 1.000 5.613 D Asp GAT 0.461 N Asn AAT 0.464 98 11 10 C. elegans 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 85.08 0.00 Tolerated 0.11 III.37 good 7.378E-1 0.0006087 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.G292A:p.D98N CTDSP2:uc001sqm.3:exon4:c.G292A:p.D98N CTDSP2:NM_005730:exon4:c.G292A:p.D98N . . 0.64102566 . . @ 100 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.865 . @ . . . . . 1 0.979 . . 156.0 . . . . . . . . . . 0.4692 0.512 0.469 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.640 @ . . . 0.71 0.48 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.368 0.016 . . 37 . 0.754 . . 0.758 . . . 0.665 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.799 . . 0 0 0 0 0 0 . 0.508 . . 0.560 . . . . . . 0 0.367 . . . . . 0.873 . 0.169 . HET 0.02 rs74343811 . . . . . . ID\x3dCOSM4147353\x3bOCCURENCE\x3d1(thyroid) . . . . . 17.3988 . ENST00000550144 IV.92 IV.92 . 0.200000 O14595 . . Name\x3dnsv726 . . 0.691 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.717 2.717000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.706 . 0.490 2.717 0.871 . . . rs74343811 rs74343811 1 1538 10 1/0 0,250,254 +rs75591888 12 58220844 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220844 58220844 Chr12(GRCh37):g.58220844C>T 289 289 NM_005730.3:c.289G>A p.Glu97Lys p.Glu97Lys 4 608711 37 3' 74.2179 5.83605 0.866996 2.73927 74.2179 5.83605 0.866996 2.68651 0 NLI interacting factor rs75591888 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 245866 15288 33578 9850 17248 30782 111630 22014 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes COSM4147354 Thyroid 0.002677 747 transition G A G>A 0.890 0.125 E Glu GAA 0.417 K Lys AAA 0.425 97 11 6 Armadillo 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 130.23 0.00 Tolerated 0.62 III.37 good 6.495E-1 0.3595 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.G289A:p.E97K CTDSP2:uc001sqm.3:exon4:c.G289A:p.E97K CTDSP2:NM_005730:exon4:c.G289A:p.E97K . . 0.6451613 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.368 . @ . . . . . 1 0.310 . . 155.0 . . . . . . . . . . -0.1999 -0.148 -0.200 c . . . . . 7.982e-06 . . . 0 1.11e-05 0 0 0 0 0 6.06e-05 0 9.474e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.162 . . exonic exonic exonic . . 0.237 @ . . . 0.66 0.46 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.422 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . T 0.196 0.007 . . 37 . 0.346 . . 0.055 . . . 0.153 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.059 . . . . . 0.363 . 0.417 . HET 0.7 rs75591888 . . . . . . ID\x3dCOSM4147354\x3bOCCURENCE\x3d2(thyroid) . . . . . IX.58 . ENST00000550144 IV.92 I.76 . 0.660000 O14595 . . Name\x3dnsv726 . . 0.324 . . . 0 4.067e-06 0 0 0 0 0 0 3.249e-05 . . . . . . . . . . 0.522 . 0.718 0.718000 . . 0.660000 . . 1.0E-255 0.102 0.226 . 0.888 0.991 . 0.235 . 0.146 0.718 -0.732 . . . rs75591888 rs75591888 1 1538 10 1/0 0,250,255 +rs76678169 12 58220872 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58220872 58220872 Chr12(GRCh37):g.58220872C>T 261 261 NM_005730.3:c.261G>A p.Gly87= p.Gly87Gly 4 608711 9 3' 74.2179 5.83605 0.866996 2.73927 74.2179 5.83605 0.866657 2.58559 -0.000130335 rs76678169 no no 0 C 0.000000 0 transition G A G>A 0.992 -0.037 G Gly GGG 0.250 G Gly GGA 0.246 87 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000551594:exon4:c.G287A:p.G96E CTDSP2:uc001sqm.3:exon4:c.G261A:p.G87G CTDSP2:NM_005730:exon4:c.G261A:p.G87G . . 0.41984734 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . -0.0460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.63 0.48 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76678169 . . . . . . . . . . . . 2.1684 . ENST00000550144 IV.92 1.0 . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.343 0.343000 . . . . . 1.0E-255 . . . . . . . . . 0.343 . . . . rs76678169 rs76678169 1 1538 10 1/0 0,244,255 +rs748943818 12 58240165 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58240165 58240165 Chr12(GRCh37):g.58240165G>A 54 54 NM_005730.3:c.54C>T p.Leu18= p.Leu18Leu 1 608711 -11 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 8.78766 0 Cryptic Donor Strongly Activated 58240171 0.006062 58.1699 1.03152 0.058976 63.9485 rs748943818 yes no Frequency 1 G 0.000000 0 transition C T C>T 1.000 1.416 L Leu CTC 0.197 L Leu CTT 0.129 18 212 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.C54T:p.L18L . . 0.1904762 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L18|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . II.77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs796439910 12 58240168 C G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58240168 58240168 Chr12(GRCh37):g.58240168C>G 51 51 NM_005730.3:c.51G>C p.Val17= p.Val17Val 1 608711 -14 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.77195 0 rs796439910 no no 0 C 0.000000 0 transversion G C G>C 1.000 1.335 V Val GTG 0.468 V Val GTC 0.240 17 220 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.G51C:p.V17V . . 0.21428572 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtC|V17|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . II.63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +rs112505351 12 58240177 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58240177 58240177 Chr12(GRCh37):g.58240177G>A 42 42 NM_005730.3:c.42C>T p.Asp14= p.Asp14Asp 1 608711 -23 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.34104 0 rs112505351 no no 0 G 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000000 0.000068 2 0 0 0 0 2 0 0 0 232822 13828 32786 9570 16806 29212 104338 21068 5214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Exomes transition C T C>T 1.000 1.174 D Asp GAC 0.539 D Asp GAT 0.461 14 229 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.C42T:p.D14D . . 0.24 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 125.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D14|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . II.50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.53 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112505351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.25 0 8.59e-06 0 0 0 0 0 0 6.847e-05 . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs112505351 rs112505351 1 1538 10 1/0 0,229,255 +rs796887934 12 58240188 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58240188 58240188 Chr12(GRCh37):g.58240188G>A 31 31 NM_005730.3:c.31C>T p.Arg11Trp p.Arg11Trp 1 608711 -34 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.16324 0 rs796887934 no no 0 G 0.000000 0 COSM5763476 Large intestine 0.000896 2231 transition C T C>T 1.000 2.707 R Arg CGG 0.207 W Trp TGG 1.000 11 11 5 Cat -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.02 III.39 good 3.478E-2 0.06003 235 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.C31T:p.R11W . . 0.25833333 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.897 . @ . . . . . 1 0.973 . . 120.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R11W|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . 0.1364 0.181 0.136 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.362 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.130 . . . . D 0.624 0.046 . . 37 . 0.136 . . 0.174 . . . 0.170 0.418 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.571 . . 0.447 . . . . . . 0 0.682 . . . . . 0.566 . 0.517 . HET 0.01 . . . . . . . . . . . . . 12.773 . . III.25 III.25 . 0.000000 . . . . . . 0.296 . . III.25 . . . . . . . . . . . . . . . . . . . 0.072 . 2.110 2.110000 . . 0.000000 . . 1.0E-235 1.000 0.715 . 0.888 0.999 . 0.503 . 0.551 2.110 0.573 . . . . . 1 1538 10 1/0 0,231,255 +rs758249968 12 58240189 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58240189 58240189 Chr12(GRCh37):g.58240189C>T 30 30 NM_005730.3:c.30G>A p.Ala10= p.Ala10Ala 1 608711 -35 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.32616 0 rs758249968 no no 0 C 0.000000 0 0.000004 0.000000 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000031 1 0 1 0 0 0 0 0 0 232562 13846 32752 9568 16802 29184 104216 21016 5178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Exomes COSM5763540 Large intestine 0.000896 2231 transition G A G>A 1.000 2.707 A Ala GCG 0.107 A Ala GCA 0.226 10 242 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.G30A:p.A10A . . 0.28125 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A10|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . II.70 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758249968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.25 0 4.3e-06 3.053e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +rs74554628 12 58240210 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58240210 58240210 Chr12(GRCh37):g.58240210G>T 9 9 NM_005730.3:c.9C>A p.His3Gln p.His3Gln 1 608711 -56 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.39234 0 rs74554628 no no 0 G 0.000000 0 COSM5021764|COSM5021764|COSM5021764 Upper aerodigestive tract|Large intestine|Bone 0.003215|0.001345|0.001757 1244|2231|569 transversion C A C>A 1.000 2.707 H His CAC 0.587 Q Gln CAA 0.256 3 11 5 Cat 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.57 III.39 good 8.732E-1 0.5438 253 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.C9A:p.H3Q . . 0.3140496 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.311 . @ . . . . . 1 0.306 . . 121.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H3Q|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . -0.0883 0.026 -0.088 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.162 . . exonic exonic exonic . . 0.362 @ . . . 0.54 0.49 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.304 . . . . T 0.382 0.017 . . 37 . 0.110 . . 0.207 . . . 0.404 0.333 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.138 . . 0 0 0 0 0 0 . 0.356 . . 0.300 . . . . . . 0 0.912 . . . . . 0.566 . 0.402 . HET 0.17 rs74554628 . . . . . . . . . . . . 12.773 . . III.25 III.25 . 0.200000 . . . . . . 0.467 . . III.25 . . . . . . . . . . . . . . . . . . . 0.072 . 2.110 2.110000 . . 0.200000 . . 1.0E-253 1.000 0.715 . 0.888 0.923 . 0.438 . 0.551 2.110 0.866 . . . rs74554628 rs74554628 1 1538 10 1/0 0,237,255 +. 12 62931847 TTGT T - MON2 29177 MON2 homolog, regulator of endosome-to-Golgi trafficking NM_015026.2 1 10379 5154 NP_055841.2 Q7Z3U7 deletion intron GRCh37 62931850 62931852 Chr12(GRCh37):g.62931850_62931852del 2119-26 2119-24 NM_015026.2:c.2119-26_2119-24del p.? p.? 17 16 616822 -24 3' 92.8718 9.38792 0.928744 8.14294 92.8718 9.38792 0.928744 7.16199 0 GTT 255 Pass . . . . . . . . . . . . . . . . 0.5555556 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000061987 MON2 MON2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,26 +. 12 70209121 TC T - RAB3IP 16508 RAB3A interacting protein NM_175623.3 1 9646 1431 NP_783322.1 Q96QF0 deletion intron GRCh37 70209121 70209121 Chr12(GRCh37):g.70209121del 1349-23 1349-23 NM_175623.3:c.1349-23del p.? p.? 11 10 608686 -23 3' 82.716 7.06879 0.972432 2.68311 82.716 7.06879 0.972432 2.89275 0 A 255 Pass . . . . . . . . . . . . . . . . 0.34146342 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . RAB3IP RAB3IP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +. 12 70272928 C CGGCGGGTG - MYRFL 26316 Myelin regulatory factor-like NM_182530.2 1 3123 2733 NP_872336.2 Q96LU7 insertion intron GRCh37 70272928 70272929 Chr12(GRCh37):g.70272928_70272929insGGCGGGTG 206-47 206-46 NM_182530.2:c.206-47_206-46insGGCGGGTG p.? p.? 4 3 -46 3' 88.0138 13.4142 0.990957 13.076 88.0138 13.4142 0.990957 XII.26 0 GGCGGGTG 255 Pass . . . . . . . . . . . . . . . . 0.3272727 . . . 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 110 . . INTRON(MODIFIER||||MYRFL|mRNA|CODING|NM_182530|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000166268 . MYRFL . dist\x3d55944\x3bdist\x3d47509 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +rs748081671 12 70272929 T C - MYRFL 26316 Myelin regulatory factor-like NM_182530.2 1 3123 2733 NP_872336.2 Q96LU7 substitution intron GRCh37 70272929 70272929 Chr12(GRCh37):g.70272929T>C 206-46 206-46 NM_182530.2:c.206-46T>C p.? p.? 4 3 -46 3' 88.0138 13.4142 0.990957 13.076 88.0138 13.4142 0.990957 13.1972 0 rs748081671 yes no Frequency 1 T 0.000000 0 0.000065 0.000229 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000229 2 2 0 0 0 0 0 0 0 30814 8724 834 298 1614 0 14876 3494 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.000 -3.911 255 PASS . . . . . . . . . . . . . . . . 0.33027524 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . INTRON(MODIFIER||||MYRFL|mRNA|CODING|NM_182530|) . . . . . . . -0.4503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000166268 . MYRFL . dist\x3d55945\x3bdist\x3d47508 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.491e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs867650962 12 70272930 C A - MYRFL 26316 Myelin regulatory factor-like NM_182530.2 1 3123 2733 NP_872336.2 Q96LU7 substitution intron GRCh37 70272930 70272930 Chr12(GRCh37):g.70272930C>A 206-45 206-45 NM_182530.2:c.206-45C>A p.? p.? 4 3 -45 3' 88.0138 13.4142 0.990957 13.076 88.0138 13.4142 0.990957 XII.27 0 rs867650962 no no 0 C 0.000000 0 transversion C A C>A 0.000 -0.037 254 PASS . . . . . . . . . . . . . . . . 0.31896552 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . INTRON(MODIFIER||||MYRFL|mRNA|CODING|NM_182530|) . . . . . . . 0.2909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000166268 . MYRFL . dist\x3d55946\x3bdist\x3d47507 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +rs201212163 12 72004884 G A - ZFC3H1 28328 Zinc finger, C3H1-type containing NM_144982.4 -1 7158 5970 NP_659419.3 O60293 substitution intron GRCh37 72004884 72004884 Chr12(GRCh37):g.72004884G>A 5730-7 5730-7 NM_144982.4:c.5730-7C>T p.? p.? 33 32 -7 3' 88.6008 X.89 0.996799 XI.75 88.6008 X.33 0.997494 11.0211 -0.00272281 rs201212163 no no 0 G 0.000000 0 0.006528 0.003854 0.008411 0.006178 0.014471 0.007404 0.004934 0.010718 0.005917 0.014471 879 47 92 30 105 109 340 140 16 134646 12194 10938 4856 7256 14722 68914 13062 2704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 5 4 1 0 2 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5896185 Skin 0.000812 1232 transition C T C>T 0.102 -0.117 229 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . INTRON(MODIFIER||||ZFC3H1|mRNA|CODING|NM_144982|) . . . . . . . 0.7822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . 0.57 0.47 182 ENSG00000133858 ZFC3H1 ZFC3H1 ENST00000552994:c.*678C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201212163 . . . . . . . . . . . . . . . . . . . . 0 0.006 Name\x3dnsv832451 . . . . . . 0.0047 0.0070 0.0086 0.0064 0.0168 0.0101 0.0053 0.0058 0.0074 0.0027 0.0031 0.0029 0 0.0009 0.0714 0.0026 0.0063 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs201212163 rs201212163 1 1538 10 1.I 0,0,0 +. 12 78594402 T A - NAV3 15998 Neuron navigator 3 NM_001024383.1 1 9826 7158 NP_001019554.1 Q8IVL0 substitution intron GRCh37 78594402 78594402 Chr12(GRCh37):g.78594402T>A 6834+31 6834+31 NM_001024383.1:c.6834+31T>A p.? p.? 38 38 611629 31 5' 72.656 8.72697 0.754559 0 72.656 8.72697 0.754559 0 0 transversion T A T>A 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . . . . . . . . . -0.5001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000067798 NAV3 NAV3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv297n67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 82152106 C G - PPFIA2 9246 Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NM_003625.4 -1 5654 3774 NP_003616.2 O75334 substitution intron GRCh37 82152106 82152106 Chr12(GRCh37):g.82152106C>G 70 70 NM_003625.4:c.-3+73G>C p.? p.? 2 2 603143 73 5' 67.9163 4.67305 0.398168 1.95525 67.9163 4.67305 0.398168 2.14689 0 Cryptic Acceptor Weakly Activated 82152098 8.91647 0.837287 75.9681 9.23075 0.952344 76.9732 transversion G C G>C 0.992 0.125 212 PASS . . . . . . . . . . . . . . . . 0.19298245 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . I.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000139220 PPFIA2 PPFIA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1466n71 . . . . . III.64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 12 82152117 C G - PPFIA2 9246 Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NM_003625.4 -1 5654 3774 NP_003616.2 O75334 substitution intron GRCh37 82152117 82152117 Chr12(GRCh37):g.82152117C>G 59 59 NM_003625.4:c.-3+62G>C p.? p.? 2 2 603143 62 5' 67.9163 4.67305 0.398168 1.95525 67.9163 4.67305 0.398168 1.97677 0 transversion G C G>C 0.677 0.044 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.8554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000139220 PPFIA2 PPFIA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1466n71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs61735395 12 95681533 A G - VEZT 18258 Vezatin, adherens junctions transmembrane protein NM_001352088.1 1 4631 2409 NP_001339017.1 substitution synonymous exon GRCh37 95681533 95681533 Chr12(GRCh37):g.95681533A>G 1491 1491 NM_001352088.1:c.1491A>G p.Lys497= p.Lys497Lys 10 94 3' 87.0218 8.15831 0.4746 2.52106 87.0218 8.15831 0.4746 2.52106 0 rs61735395 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.003000 0.005800 0.003646 0.001561 0.001957 0.001529 0.000000 0.000210 0.006523 0.001108 0.004955 0.006523 964 36 65 15 0 6 783 28 31 264370 23060 33222 9810 18152 28560 120034 25276 6256 0.000045 0.000087 0.000060 0.000000 0.000000 0.000000 0.000050 0.000000 0.000320 6 1 1 0 0 0 3 0 1 952 34 63 15 0 6 777 28 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8148 3748 11896 44 8 52 0.00537109 0.00212993 0.00435219 0.00537109 0.00212993 0.00435219 53 transition A G A>G 1.000 0.448 K Lys AAA 0.425 K Lys AAG 0.575 497 255 PASS . 0.0018 0.01 . 0.0026 . 0.0014 0.0058 . 0.003 . . . VEZT:NM_017599:exon9:c.A1422G:p.K474K . . 0.57894737 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 19.0 . . . 0.0021 0.0044 0.0054 0.0021 0.0044 0.0054 . I.36 . . . . . . . . 3.204e-03 . . . 0.0017 0.0049 0.0043 0 0.0012 0.0090 0.0026 9.878e-05 0.0014 0.0053 0.0042 0 0.0013 0.0097 0.0027 9.94e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.41 0.34 182 ENSG00000028203 VEZT VEZT . . . . . . 325 0.00500185 64976 318 0.00530124 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61735395 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7234 0.004352 . . . . . 0.0012 0.0036 0.0020 0.0016 0 0.0011 0.0066 0.0049 0.0002 0.0022 0.0038 0.0012 0 0 0.0009 0.0060 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61735395 rs61735395 rs61735395 rs61735395 1 1538 10 1/0 0,255,255 +. 12 98938907 G GTT - TMPO 11875 Thymopoietin NM_003276.2 1 3672 2085 NP_003267.1 P42166 duplication downstream GRCh37 98938925 98938926 Chr12(GRCh37):g.98938924_98938925dup *10804 *10805 NM_003276.2:c.*10804_*10805dup p.? p.? 4 188380 12325 3' 94.7172 XI.97 0.994966 IX.47 94.7172 XI.97 0.994966 IX.47 0 rs577612551 yes no Frequency/1000G 2 0.006106 TT 17 0.003395 0.004500 0.004100 0.000000 0.004000 0.004300 TT 255 Pass . . . . . 0.0045 0.0034 0.0043 . 0.004 0.0041 . . . . . 0.4 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000120802 TMPO TMPO . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs577612551 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +rs77210491 12 99145357 G A - ANKS1B 24600 Ankyrin repeat and sterile alpha motif domain containing 1B NM_001352186.1 -1 6040 3858 NP_001339115.1 substitution intron GRCh37 99145357 99145357 Chr12(GRCh37):g.99145357G>A 3580-57 3580-57 NM_001352186.1:c.3580-57C>T p.? p.? 26 25 607815 -57 3' 93.5893 XI.24 0.970828 9.921 93.5893 XI.24 0.970828 X.76 0 Cryptic Acceptor Weakly Activated 99145337 6.0659 0.777554 83.7261 6.71353 0.827356 83.7261 rs77210491 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000000 0.000000 0.000000 0.017900 0.008600 0.008463 0.002867 0.010740 0.009934 0.000000 0.000000 0.013863 0.002005 0.010204 0.013863 262 25 9 3 0 0 208 7 10 30958 8720 838 302 1622 0 15004 3492 980 0.007634 0.000000 0.000000 0.000000 0.000000 0.000000 0.009615 0.000000 0.000000 2 0 0 0 0 0 2 0 0 258 25 9 3 0 0 204 7 10 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.198 255 PASS . 0.01 0.02 . 0.02 . 0.0048 0.0086 . 0.018 . . . . . . 0.47727272 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.2753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.39 0.51 182 ENSG00000185046 ANKS1B ANKS1B . . . . . . 969 0.0149132 64976 946 0.0157703 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77210491 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832496 . . . . . . . . . . . . . . . 0.0029 0.0085 0.0107 0.0099 0 0.0020 0.0139 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs77210491 rs77210491 1 1538 10 1/0 0,255,255 +. 12 102124255 CAT C - CHPT1 17852 Choline phosphotransferase 1 NM_020244.2 1 1567 1221 NP_064629.2 Q8WUD6 deletion downstream GRCh37 102124256 102124257 Chr12(GRCh37):g.102124256_102124257del *1533 *1534 NM_020244.2:c.*1533_*1534del p.? p.? 9 616747 1578 3' 73.8613 5.703 0.209778 0 73.8613 5.703 0.209778 0 0 New Donor Site 102124255 3.86672 0.745895 71.8462 rs200174486 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003800 0.000000 0.001000 0.004000 0.008600 0.003304 0.003880 0.003414 0.010141 0.000275 0.000533 0.003807 0.001788 0.003604 0.010141 357 46 53 62 2 8 164 11 11 108042 11856 15526 6114 7262 15000 43080 6152 3052 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 357 46 53 62 2 8 164 11 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AT 255 Pass 0.01 0.01 0.01 0.0035 0.01 0.0038 0.0032 0.0086 0.001 0.004 . . . . . . 0.42307693 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . 2.488e-03 . . . 0.0057 0.0032 0 0 . 0.0093 0.0192 0.0008 0.0057 0.0032 0 0 . 0.0094 0.0192 0.0008 . . . . . . intronic intronic intronic . . . . . . . . . . . SYCP3 SYCP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200174486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0028 0.0035 0.0102 0.0002 0.0010 0.0029 0.0019 0.0005 0.0044 0.0047 0.0026 0.0099 0.0006 0.0025 0.0056 0.0073 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs200174486 rs200174486 1 1538 10 1.I 0,12,37 +. 12 102124255 CAT C - SYCP3 18130 Synaptonemal complex protein 3 NM_001177949.1 -1 1129 711 NP_001171420.1 Q8IZU3 deletion intron GRCh37 102124256 102124257 Chr12(GRCh37):g.102124256_102124257del 552+1089 552+1090 NM_001177949.1:c.552+1089_552+1090del p.? p.? 7 7 604759 1089 5' 79.6441 7.80624 0.755738 0 79.6441 7.80624 0.755738 0 0 rs200174486 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003800 0.000000 0.001000 0.004000 0.008600 0.003304 0.003880 0.003414 0.010141 0.000275 0.000533 0.003807 0.001788 0.003604 0.010141 357 46 53 62 2 8 164 11 11 108042 11856 15526 6114 7262 15000 43080 6152 3052 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 357 46 53 62 2 8 164 11 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AT 255 Pass 0.01 0.01 0.01 0.0035 0.01 0.0038 0.0032 0.0086 0.001 0.004 . . . . . . 0.42307693 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . 2.488e-03 . . . 0.0057 0.0032 0 0 . 0.0093 0.0192 0.0008 0.0057 0.0032 0 0 . 0.0094 0.0192 0.0008 . . . . . . intronic intronic intronic . . . . . . . . . . . SYCP3 SYCP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200174486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0028 0.0035 0.0102 0.0002 0.0010 0.0029 0.0019 0.0005 0.0044 0.0047 0.0026 0.0099 0.0006 0.0025 0.0056 0.0073 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs200174486 rs200174486 1 1538 10 1.I 0,12,37 +. 12 104714847 C CTT - TXNRD1 12437 Thioredoxin reductase 1 NM_001093771.2 1 3860 1950 NP_001087240.1 Q16881 duplication intron GRCh37 104714861 104714862 Chr12(GRCh37):g.104714860_104714861dup 990-9 990-8 NM_001093771.2:c.990-9_990-8dup p.? p.? 10 9 601112 -7 3' 90.3409 XI.59 0.991258 XI.93 90.3409 XI.59 0.991258 X.53 0 0.002913 0.001146 0.003301 0.002859 0.010906 0.003819 0.001864 0.001997 0.002292 0.010906 430 11 54 15 116 66 135 26 7 147616 9596 16358 5246 10636 17284 72420 13022 3054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 165 Exomes TT 255 Pass . . . . . . . . . . . . . . . . 0.36363637 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33 . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0 0.0004 0 7.562e-05 0 0.0009 0 0.0002 0 0 0 5.832e-05 0 0.0009 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000198431 TXNRD1 TXNRD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs775620705 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv899494 . . . . . . 0.0011 0.0029 0.0033 0.0029 0.0109 0.0020 0.0019 0.0023 0.0038 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,44 +rs35804663 12 105568101 G A - APPL2 18242 Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 NM_001251904.1 -1 3248 2013 NP_001238833.1 substitution synonymous exon GRCh37 105568101 105568101 Chr12(GRCh37):g.105568101G>A 2004 2004 NM_001251904.1:c.2004C>T p.Ser668= p.Ser668Ser 21 606231 126 3' 87.3965 8.67837 0.504545 8.25479 87.3965 8.67837 0.504545 8.25479 0 rs35804663 yes no Frequency/1000G 2 A 0.000000 0 0.000998 0.003000 0.000000 0.000000 0.000000 0.001400 0.000239 0.000791 0.000146 0.000000 0.000000 0.000033 0.000300 0.000078 0.000155 0.000791 66 19 5 0 0 1 38 2 1 276596 24018 34220 10144 18800 30702 126520 25756 6436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 66 19 5 0 0 1 38 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4405 13003 2 1 3 0.000232558 0.000226963 0.000230663 0.000232558 0.000226963 0.000230663 182 transition C T C>T 0.992 0.125 S Ser TCC 0.220 S Ser TCT 0.185 668 255 PASS . . . . . 0.003 0.001 0.0014 . . . . . . . . 0.35 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 40.0 . . . 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . I.92 . . . . . . . . 2.131e-04 . . . 0.0008 0.0003 8.67e-05 0 0 0.0004 0 0 0.0009 0.0002 8.941e-05 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.42 0.56 182 ENSG00000136044 APPL2 APPL2 . . . . . . 9 0.000138513 64976 4 6.66822e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35804663 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832506 0.000231 . . . . . 0.0009 0.0002 0.0001 0 0 8.984e-05 0.0003 0.0002 3.257e-05 0.0006 0.0003 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 rs35804663 rs35804663 rs35804663 rs35804663 1 1538 10 1/0 0,255,255 +. 12 107080626 TTTTTC T - RFX4 9985 Regulatory factor X, 4 (influences HLA class II expression) NM_001206691.1 1 3710 2235 NP_001193620.1 deletion intron GRCh37 107080628 107080632 Chr12(GRCh37):g.107080628_107080632del 405-34 405-30 NM_001206691.1:c.405-34_405-30del p.? p.? 6 5 603958 -30 3' 81.1899 7.16518 0.605365 9.16749 81.1899 7.16518 0.605365 8.11347 0 rs201342896 no no 0 0.000000 0 0.000015 0.000000 0.000039 0.000000 0.000000 0.000046 0.000011 0.000000 0.000000 0.000046 3 0 1 0 0 1 1 0 0 194054 12846 25788 6764 14514 21884 90584 17502 4172 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 78 Exomes 5582 2612 8194 2672 1652 4324 0.323722 0.38743 0.345423 0.323722 0.38743 0.345423 40 TTTCT 255 Pass . . . . . . . . . . . . . . . . 0.44 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25 . . . . . . 0.39 0.35 0.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC100287944 LOC100287944 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201342896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.546e-05 3.878e-05 0 0 0 1.104e-05 0 4.57e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201342896 rs201342896 1 1538 10 1.I 0,12,36 +rs149956241 12 109292482 C T - DAO 2671 D-amino-acid oxidase NM_001917.4 1 1596 1044 NP_001908.3 P14920 substitution synonymous exon GRCh37 109292482 109292482 Chr12(GRCh37):g.109292482C>T 723 723 NM_001917.4:c.723C>T p.Ile241= p.Ile241Ile 9 124050 28 3' 83.9897 9.43056 0.859196 8.12843 83.9897 9.43056 0.859196 7.57566 0 FAD dependent oxidoreductase rs149956241 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001447 0.000125 0.000145 0.000099 0.000000 0.000032 0.002723 0.001396 0.001546 0.002723 401 3 5 1 0 1 345 36 10 277220 24024 34420 10152 18870 30782 126712 25792 6468 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 3 0 0 0 0 0 3 0 0 395 3 5 1 0 1 339 36 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8589 4405 12994 11 1 12 0.00127907 0.000226963 0.000922651 0.00127907 0.000226963 0.000922651 115 transition C T C>T 1.000 0.851 I Ile ATC 0.481 I Ile ATT 0.356 241 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . DAO:NM_001917:exon9:c.C723T:p.I241I . . 0.52272725 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 88.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I241|DAO|mRNA|CODING|NM_001917|NM_001917.ex.9) 0.0002 0.0009 0.0013 0.0002 0.0009 0.0013 . 1.0729 . . . . . . . . 1.350e-03 . . . 9.626e-05 0.0010 8.649e-05 0 0.0005 0.0021 0.0028 6.06e-05 0.0001 0.0010 8.919e-05 0 0.0008 0.0018 0 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.25 0.56 182 ENSG00000110887 DAO DAO . . . . . . 69 0.00106193 64976 66 0.00110026 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149956241 . . . . . . . . . . . . . . . . . . . . . . . 0.000923 . . . . 2.VIII 0.0001 0.0013 0.0001 0.0001 0 0.0014 0.0024 0.0011 3.249e-05 0.0001 0.0030 0 0 0 0.0014 0.0055 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs149956241 rs149956241 1 1538 10 1/0 0,255,255 +. 12 109935819 T C - UBE3B 13478 Ubiquitin protein ligase E3B NM_130466.3 1 5744 3207 NP_569733.2 Q7Z3V4 substitution intron GRCh37 109935819 109935819 Chr12(GRCh37):g.109935819T>C 819+91 819+91 NM_130466.3:c.819+91T>C p.? p.? 10 10 608047 91 5' 91.1667 9.84565 0.998555 7.30102 91.1667 9.84565 0.998555 7.30102 0 transition T C T>C 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.42424244 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.6279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000151148 UBE3B UBE3B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs145460865 12 110230121 G A - TRPV4 18083 Transient receptor potential cation channel, subfamily V, member 4 NM_021625.4 -1 3239 2616 NP_067638.3 Q9HBA0 substitution intron GRCh37 110230121 110230121 Chr12(GRCh37):g.110230121G>A 1891+47 1891+47 NM_021625.4:c.1891+47C>T p.? p.? 12 12 605427 47 5' 89.8591 9.60237 0.994102 7.87518 89.8591 9.60237 0.994102 8.14265 0 rs145460865 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.002596 0.000800 0.003100 0.001000 0.005000 0.004300 0.005815 0.000894 0.002200 0.000299 0.000372 0.001897 0.008903 0.011255 0.004847 0.011255 1590 21 75 3 7 58 1111 284 31 273408 23492 34096 10032 18792 30576 124790 25234 6396 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000317 0.000625 14 0 0 0 0 0 8 4 2 1562 21 75 3 7 58 1095 276 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4404 12948 56 2 58 0.00651163 0.000453926 0.00445948 0.00651163 0.000453926 0.00445948 39 RCV000245491.1 germline clinical testing Likely benign 1 not specified transition C T C>T 0.000 -0.037 255 PASS . 0.0027 0.0028 0.0017 0.01 0.0008 0.0026 0.0043 0.001 0.005 0.0031 . . . . . 0.5362319 . . germline 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Likely//\@benign Likely_benign RCV000245491.1 not_specified MedGen CN169374 2 . . . 69.0 . . . 0.0005 0.0045 0.0065 0.0005 0.0045 0.0065 . 0.2082 . . . . . . . . 6.647e-03 . . . 0.0008 0.0036 0.0019 0.0007 0.0071 0.0054 0.0015 0.0020 0.0008 0.0071 0.0019 0.0005 0.0083 0.0116 0.0060 0.0020 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.48 0.35 182 ENSG00000111199 TRPV4 TRPV4 . . . . . . 333 0.00512497 64976 320 0.00533458 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145460865 . . . . . . . . . . . . . . . . . . . . . . . 0.004459 . . . . . 0.0007 0.0058 0.0021 0.0003 0.0003 0.0111 0.0091 0.0046 0.0019 0.0013 0.0057 0.0049 0 0.0006 0.0123 0.0074 0.0062 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145460865 rs145460865 1 1538 10 1/0 0,255,255 +. 12 112219700 A T - ALDH2 404 Aldehyde dehydrogenase 2 family (mitochondrial) NM_000690.3 1 2060 1554 NP_000681.2 P05091 substitution intron GRCh37 112219700 112219700 Chr12(GRCh37):g.112219700A>T 115-22 115-22 NM_000690.3:c.115-22A>T p.? p.? 2 1 100650 -22 3' 81.4558 XI.79 0.990339 XII.18 81.4558 XI.79 0.990339 XI.35 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245296 15208 33522 9826 17206 30616 111212 22242 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transversion A T A>T 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.58 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.4561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . ALDH2 ALDH2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.077e-06 0 0 0 0 8.992e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs181582263 12 112750817 T C - HECTD4 26611 HECT domain containing E3 ubiquitin protein ligase 4 NM_001109662.3 -1 15450 12855 NP_001103132.3 substitution splice site GRCh37 112750817 112750817 Chr12(GRCh37):g.112750817T>C 484+4 484+4 NM_001109662.3:c.484+4A>G p.? p.? 4 4 4 5' 82.2818 8.99306 0.825781 2.25353 72.2012 5.55692 0.785449 0 -0.184481 rs181582263 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.004000 0.005800 0.002594 0.000604 0.001709 0.000000 0.000000 0.001020 0.004016 0.007629 0.003053 0.007629 415 9 42 0 0 23 260 67 14 159998 14896 24578 8342 11532 22542 64740 8782 4586 0.000013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000031 0.000000 0.000000 1 0 0 0 0 0 1 0 0 413 9 42 0 0 23 258 67 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.079 0.448 255 PASS . 0.0041 0.01 . 0.01 . 0.0016 0.0058 . 0.004 . . . . . . 0.53846157 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||HECTD4|mRNA|CODING|NM_001109662|) . . . . . . . 1.1188 . . . . . . . . 1.059e-03 . . . 0 0.0010 0 0 . 0.0012 0 0.0011 0 0.0009 0 0 . 0.0007 0 0.0011 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.74 0.43 182 ENSG00000173064 HECTD4 HECTD4 . . . . . . 223 0.00343204 64976 215 0.00358417 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181582263 . . . . . . . . . . . . . . . . . . . . 0.5276 0.58 . . . . . . 4.VI 0.0008 0.0024 0.0017 0 0 0.0072 0.0039 0.0031 0.0010 0.0005 0.0033 0.0024 0 0 0.0083 0.0043 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs181582263 rs181582263 1 1538 10 1/0 0,255,255 +rs17851814 12 112846113 G A - RPL6 10362 Ribosomal protein L6 NM_000970.4 -1 965 867 NP_000961.2 Q02878 substitution synonymous exon GRCh37 112846113 112846113 Chr12(GRCh37):g.112846113G>A 267 267 NM_000970.4:c.267C>T p.Leu89= p.Leu89Leu 3 603703 30 3' 88.7162 9.84444 0.989929 10.852 88.7162 9.84444 0.989929 X.02 0 Cryptic Donor Strongly Activated 112846119 0.781369 0.026861 60.8611 3.86871 0.162618 66.6397 Ribosomal protein L6, N-terminal rs17851814 yes no Frequency 1 A 0.000000 0 0.000076 0.000000 0.000000 0.000000 0.000106 0.000000 0.000150 0.000000 0.000000 0.000150 21 0 0 0 2 0 19 0 0 277240 24034 34420 10152 18868 30780 126726 25794 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 0 0 0 2 0 19 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.283 0.044 L Leu CTC 0.197 L Leu CTT 0.129 89 253 PASS . . . . . . . . . . . . . . . . 0.32 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.9066 . . . . . . . . 9.471e-05 . . . 0 8.817e-05 0 0 0.0003 0.0002 0 0 0 0.0001 0 0.0001 0.0002 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.42 182 ENSG00000089009 RPL6 RPL6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17851814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.86 0 8.122e-05 0 0 0.0001 0 0.0002 0 0 0 3.228e-05 0 0 0 0 6.66e-05 0 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs17851814 rs17851814 rs17851814 rs17851814 1 1538 10 1/0 0,255,255 +rs41304351 12 112891203 G C - PTPN11 9644 Protein tyrosine phosphatase, non-receptor type 11 NM_001330437.1 1 6134 1794 NP_001317366.1 Q06124 substitution intron GRCh37 112891203 112891203 Chr12(GRCh37):g.112891203G>C 525+12 525+12 NM_001330437.1:c.525+12G>C p.? p.? 4 4 176876 12 5' 87.8485 8.76378 0.986942 V.34 87.8485 8.76378 0.986942 6.25739 0 rs41304351 yes no Frequency/1000G 2 G benign 0.000000 0 0.005990 0.000000 0.001000 0.000000 0.015900 0.018700 0.009836 0.002123 0.013543 0.005815 0.000053 0.002047 0.015396 0.002134 0.012531 0.015396 2725 51 466 59 1 63 1949 55 81 277050 24022 34410 10146 18862 30782 126590 25774 6464 0.000195 0.000000 0.000232 0.000000 0.000000 0.000065 0.000348 0.000000 0.000000 27 0 4 0 0 1 22 0 0 2671 51 458 59 1 61 1905 55 81 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8491 4395 12886 109 11 120 0.0126744 0.0024966 0.00922651 0.0126744 0.0024966 0.00922651 70 RCV000157027.1|RCV000037649.6 germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Benign 0|2 Noonan syndrome|not specified transversion G C G>C 0.000 -0.360 252 PASS . 0.01 0.02 . 0.01 . 0.006 0.019 . 0.016 0.001 . . . . . 0.32142857 . . germline 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign Benign|other|Benign RCV000033494.2|RCV000037649.5|RCV000157027.1 Rasopathy|not_specified|Noonan_syndrome MedGen:Orphanet|MedGen|MeSH:MedGen:Orphanet:SNOMED_CT CN166718:ORPHA98733|CN169374|D009634:C0028326:ORPHA648:205824006 2 . . . 28.0 . . . 0.0025 0.0092 0.013 0.0025 0.0092 0.013 . 0.0618 . . . . . . . . 9.660e-03 . . . 0.0019 0.0091 0.0116 0.0005 0.0016 0.0148 0.0098 0.0018 0.0015 0.0095 0.0116 0.0003 0.0026 0.0149 0.0086 0.0019 . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.42 0.27 182 ENSG00000179295 PTPN11 PTPN11 . . . . . . 906 0.0139436 64976 876 0.0146034 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41304351 0.011 0.007 CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dRasopathy|AllHighlyPenetrant\x3bCLNACC\x3dRCV000033494.2|RCV000037649.1 CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dRasopathy|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000033494.2|RCV000037649.1\x3bCLNDSDB\x3dMedGen|.\x3bCLNDSDBID\x3dCN166718|. CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dRasopathy|not_specified|Noonan's_syndrome\x3bCLNREVSTAT\x3dsingle|mult|single\x3bCLNACC\x3dRCV000033494.2|RCV000037649.3|RCV000157027.1\x3bCLNDSDB\x3dMedGen|MedGen|GeneReviews:MedGen:SNOMED_CT\x3bCLNDSDBID\x3dCN166718|CN169374|NBK1124:C0028326:205824006 CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dRasopathy|not_specified|Noonan's_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided\x3bCLNACC\x3dRCV000033494.2|RCV000037649.3|RCV000157027.1\x3bCLNDSDB\x3dMedGen|MedGen|GeneReviews:MedGen:SNOMED_CT\x3bCLNDSDBID\x3dCN166718|CN169374|NBK1124:C0028326:205824006 . . . . . . . . . . . . . . . . Name\x3dnsv889 0.009227 . . . . . 0.0017 0.0099 0.0134 0.0060 5.8e-05 0.0022 0.0155 0.0128 0.0020 0.0029 0.0090 0.0179 0 0 0.0017 0.0147 0.0112 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . 0.02 rs41304351 rs41304351 rs41304351 rs41304351 1 1538 10 1/0 0,255,255 +rs147338699 12 113612455 T C - DDX54 20084 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 NM_001111322.1 -1 4381 2649 NP_001104792.1 substitution missense exon GRCh37 113612455 113612455 Chr12(GRCh37):g.113612455T>C 1058 1058 NM_001111322.1:c.1058A>G p.Tyr353Cys p.Tyr353Cys 10 611665 -11 5' 86.8044 8.70331 0.993011 X.14 86.8044 8.70331 0.993011 10.885 0 Helicase, C-terminal rs147338699 yes no Frequency/1000G 2 T 0.000000 0 0.004593 0.000000 0.018400 0.000000 0.004000 0.001400 0.007216 0.001293 0.002558 0.000789 0.000053 0.022474 0.008430 0.002490 0.007437 0.022474 1995 31 88 8 1 691 1064 64 48 276486 23970 34404 10136 18848 30746 126222 25706 6454 0.000123 0.000000 0.000000 0.000000 0.000000 0.000781 0.000079 0.000000 0.000000 17 0 0 0 0 12 5 0 0 1961 31 88 8 1 667 1054 64 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4395 12935 60 11 71 0.00697674 0.0024966 0.00545902 0.00697674 0.0024966 0.00545902 50 transition A G A>G 1.000 2.304 Y Tyr TAC 0.562 C Cys TGC 0.552 353 11 9 Baker's yeast -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 248.74 0.00 Deleterious 0.01 3.VIII good 4.009E-2 0.01461 255 PASS . 0.0023 0.0028 . 0.01 . 0.0046 0.0014 . 0.004 0.018 . . . . . 0.5294118 . . @ 54 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.638 . @ . . . . . 1 0.861 . . 102.0 . . . 0.0025 0.0055 0.007 0.0025 0.0055 0.007 . 0.2042 0.184 0.204 c . . . . . 7.766e-03 . . . 0.0017 0.0085 0.0030 0 0.0038 0.0075 0.0116 0.0229 0.0019 0.0081 0.0030 0 0.0033 0.0075 0.0061 0.0229 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.326 0.0046 . . . 0.44 0.43 182 ENSG00000123064 DDX54 DDX54 . . . 1.000 0.747 . 374 0.00575597 64976 351 0.00585137 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.151 . . 0.012 . . . 0.766 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.952 . . 0 0 0 0 0 0 . 0.404 . . 0.461 . . . . . . 0 0.784 . . . . . 0.419 . 0.665 . HET 0 rs147338699 0.011 0.007 . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 10.1738 0.002408 . V.44 II.89 . 0.000000 . . . . 0.005459 . 0.429 . . II.89 0.0014 0.0074 0.0025 0.0007 0 0.0027 0.0081 0.0073 0.0225 0.0011 0.0061 0.0036 0.0033 0.0006 0.0014 0.0107 0.0082 . . 0.996 . 0.860 0.860000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.419 0.998 . 0.633 . 0.635 0.860 0.991 0.011 . . rs147338699 rs147338699 1 1538 10 1/0 0,255,255 +rs200189038 12 113796560 A G - PLBD2 27283 Phospholipase B domain containing 2 NM_173542.3 1 2832 1770 NP_775813.2 Q8NHP8 substitution missense exon GRCh37 113796560 113796560 Chr12(GRCh37):g.113796560A>G 155 155 NM_173542.3:c.155A>G p.Asp52Gly p.Asp52Gly 1 -136 5' 81.8924 9.08182 0.975053 9.99749 81.8924 9.08182 0.975053 9.99749 0 New Donor Site 113796559 4.69887 0.01339 67.8095 rs200189038 yes no Frequency/1000G 2 A 0.000000 0 0.004593 0.000000 0.014300 0.001000 0.007000 0.001400 0.004307 0.000551 0.000923 0.009499 0.000542 0.007968 0.006956 0.002220 0.006598 0.009499 224 5 2 11 1 20 148 28 9 52004 9074 2168 1158 1844 2510 21276 12610 1364 0.000077 0.000000 0.000000 0.000000 0.000000 0.000797 0.000094 0.000000 0.000000 2 0 0 0 0 1 1 0 0 220 5 2 11 1 18 146 28 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7268 3753 11021 22 1 23 0.00301783 0.000266383 0.00208258 0.00301783 0.000266383 0.00208258 5 transition A G A>G 0.000 -0.117 D Asp GAT 0.461 G Gly GGT 0.162 52 14 5 Macaque -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.45 3.XII good 6.717E-2 0.3311 255 PASS . . . . . . 0.0046 0.0014 0.001 0.007 0.014 . . . . . 0.53846157 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.129 . . 39.0 . . . 0.0003 0.0021 0.003 0.0003 0.0021 0.003 . -1.2546 -1.280 -1.255 c . . . . . 2.445e-03 . . . 0 0.0180 0 0 0 0.0270 0 0.0206 0 0.0166 0 0 0 0.0212 0 0.0206 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.115 0.0046 . . . 0.19 0.28 182 ENSG00000151176 PLBD2 PLBD2 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . 0.020 . . . . . . . . . 37 . 0.087 . . 0.261 . . . 0.101 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.170 . . . . . 0.175 . 0.043 . HET 0.63 rs200189038 . . . . . . . . . . . . 5.786 3.23E-4 . III.28 -0.459 . 0.400000 . . . . 0.002083 . 0.087 . . . 0 0.0039 0.0015 0.0093 0 0.0022 0.0049 0.0052 0.0080 0.0006 0.0046 0 0.0099 0.0006 0.0023 0.0078 0.0071 . . 0.872 . -0.089 -0.089000 . . 0.400000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.097 . 0.072 -0.089 -0.165 0.003 . . rs200189038 rs200189038 1 1538 10 1/0 0,255,255 +rs201888386 12 118471969 C A - RFC5 9973 Replication factor C subunit 5 NM_007370.6 1 2151 1023 NP_031396.1 P40937 substitution downstream GRCh37 118471969 118471969 Chr12(GRCh37):g.118471969C>A *2886 *2886 NM_007370.6:c.*2886C>A p.? p.? 11 600407 2983 3' 83.6237 8.88219 0.965966 10.1037 83.6237 8.88219 0.965966 10.1037 0 rs201888386 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.001174 0.000125 0.000697 0.002376 0.000053 0.001463 0.001250 0.002408 0.001240 0.002408 325 3 24 24 1 45 158 62 8 276738 24034 34412 10100 18866 30758 126364 25750 6454 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 323 3 24 24 1 43 158 62 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4406 12993 13 0 13 0.00151163 0 0.000999539 0.00151163 0 0.000999539 145 transversion C A C>A 0.000 -0.602 255 PASS . 0. . . . . 0.0002 0.0014 . . . . . . . . 0.5217391 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . . . 0.001 0.0015 . 0.001 0.0015 . 0.2507 . . . . . . . . 1.137e-03 . . . 9.626e-05 0.0012 0.0005 0.0002 0.0016 0.0015 0.0014 0.0016 0.0001 0.0012 0.0004 0.0001 0.0020 0.0014 0.0029 0.0016 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.51 0.7 182 ENSG00000176871 WSB2 WSB2 . . . . . . 75 0.00115427 64976 74 0.00123362 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201888386 . . . . . . . . . . . . . . . . . . . . . . . 0.001000 . . . . . 0 0.0012 0.0007 0.0023 5.798e-05 0.0024 0.0012 0.0013 0.0015 0.0003 0.0013 0.0012 0.0033 0 0.0023 0.0017 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0015 . . rs201888386 rs201888386 1 1538 10 1/0 0,255,255 +rs201888386 12 118471969 C A - WSB2 19222 WD repeat and SOCS box containing 2 NM_001278557.1 -1 2787 1266 NP_001265486.1 substitution 3'UTR GRCh37 118471969 118471969 Chr12(GRCh37):g.118471969C>A *32 *32 NM_001278557.1:c.*32G>T p.? p.? 9 195 3' 88.3938 12.1032 0.98251 7.47797 88.3938 12.1032 0.98251 7.47797 0 Cryptic Acceptor Weakly Activated 118471971 7.51778 0.89415 80.9083 8.51886 0.926513 80.9083 rs201888386 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.001174 0.000125 0.000697 0.002376 0.000053 0.001463 0.001250 0.002408 0.001240 0.002408 325 3 24 24 1 45 158 62 8 276738 24034 34412 10100 18866 30758 126364 25750 6454 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 323 3 24 24 1 43 158 62 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4406 12993 13 0 13 0.00151163 0 0.000999539 0.00151163 0 0.000999539 145 transversion G T G>T 0.000 -0.602 255 PASS . 0. . . . . 0.0002 0.0014 . . . . . . . . 0.5217391 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . . . 0.001 0.0015 . 0.001 0.0015 . 0.2507 . . . . . . . . 1.137e-03 . . . 9.626e-05 0.0012 0.0005 0.0002 0.0016 0.0015 0.0014 0.0016 0.0001 0.0012 0.0004 0.0001 0.0020 0.0014 0.0029 0.0016 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.51 0.7 182 ENSG00000176871 WSB2 WSB2 . . . . . . 75 0.00115427 64976 74 0.00123362 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201888386 . . . . . . . . . . . . . . . . . . . . . . . 0.001000 . . . . . 0 0.0012 0.0007 0.0023 5.798e-05 0.0024 0.0012 0.0013 0.0015 0.0003 0.0013 0.0012 0.0033 0 0.0023 0.0017 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0015 . . rs201888386 rs201888386 1 1538 10 1/0 0,255,255 +. 12 120126074 A AATG - CIT 1985 Citron rho-interacting serine/threonine kinase NM_001206999.1 -1 8708 6210 NP_001193928.1 insertion intron GRCh37 120126074 120126075 Chr12(GRCh37):g.120126074_120126075insATG 6187-15 6187-14 NM_001206999.1:c.6187-15_6187-14insCAT p.? p.? 48 47 605629 -14 3' 85.3667 X.37 0.981886 10.1824 85.3667 8.53317 0.967576 9.05112 -0.0668769 120126073 -20.2941 CAT 255 Pass . . . . . . . . . . . . . . . . 0.45652175 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000122966 CIT CIT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +rs202209787 12 123461522 G A - OGFOD2 25823 2-oxoglutarate and iron-dependent oxygenase domain containing 2 NM_001304833.1 1 1797 1053 NP_001291762.1 Q6N063 substitution splice site GRCh37 123461522 123461522 Chr12(GRCh37):g.123461522G>A 403+5 403+5 NM_001304833.1:c.403+5G>A p.? p.? 4 4 5 5' 81.6581 8.48112 0.859239 VIII.12 69.5066 2.56284 0.011267 6.69547 -0.611172 rs202209787 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001721 0.000376 0.000058 0.000000 0.000000 0.000780 0.001578 0.009221 0.001088 0.009221 475 9 2 0 0 24 199 234 7 275978 23912 34410 10118 18856 30776 126094 25376 6436 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 3 0 0 0 0 0 0 3 0 469 9 2 0 0 24 199 228 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8332 4045 12377 14 3 17 0.00167745 0.000741107 0.00137163 0.00167745 0.000741107 0.00137163 30 transition G A G>A 0.945 1.658 255 PASS . . . . . . 0.0004 . . 0.002 . . OGFOD2:uc010tak.1:exon3:c.G351A:p.E117E . . . 0.45945945 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . . 0.0007 0.0014 0.0017 0.0007 0.0014 0.0017 . I.03 . . . . . . . . 1.748e-03 . . . 0.0004 0.0012 0 0 0.0092 0.0012 0.0045 0.0009 0.0005 0.0018 0 0 0.0091 0.0020 0.0060 0.0009 . synonymous_SNV . . . . ncRNA_exonic exonic UTR5 . . . 0.0004 . . . 0.66 0.4 182 ENSG00000256028 OGFOD2 OGFOD2 . . NM_001304835:c.-1556G>A . . . 119 0.00183145 64976 117 0.00195046 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202209787 . . . . . . . . . . . . . . . . . . . . 0.9999 0.948 . 0.001372 . . . . 3.V 0.0003 0.0018 5.957e-05 0 0 0.0095 0.0017 0.0011 0.0008 0.0005 0.0015 0 0 0 0.0077 0.0009 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs202209787 rs202209787 1 1538 10 1/0 0,241,255 +rs368752398 12 123470940 C T - PITPNM2 21044 Phosphatidylinositol transfer protein, membrane-associated 2 NM_020845.2 -1 6736 4050 NP_065896.1 Q9BZ72 substitution intron GRCh37 123470940 123470940 Chr12(GRCh37):g.123470940C>T 3726+43 3726+43 NM_020845.2:c.3726+43G>A p.? p.? 25 24 608920 -43 3' 71.647 8.93905 0.198517 9.34623 71.647 8.93905 0.198517 9.44583 0 rs368752398 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.005300 0.000000 0.000000 0.001000 0.000000 0.002140 0.003648 0.000392 0.000000 0.000000 0.000765 0.001578 0.009919 0.001220 0.009919 411 64 10 0 0 18 126 187 6 192066 17544 25512 8032 13820 23540 79848 18852 4918 0.000021 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000212 0.000000 2 0 0 0 0 0 0 2 0 407 64 10 0 0 18 126 183 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8408 4249 12657 12 11 23 0.00142518 0.00258216 0.00181388 0.00142518 0.00258216 0.00181388 10 transition G A G>A 0.000 -0.360 255 PASS . . . . . 0.0053 0.0016 . . 0.001 . . . . . . 0.51502144 . . @ 120 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . 0.0026 0.0018 0.0014 0.0026 0.0018 0.0014 . 0.5016 . . . . . . . . 1.386e-03 . . . 0.0057 0.0024 0.0009 0 0.0556 0.0019 0 0.0013 0.0063 0.0032 0.0010 0 0.0262 0.0036 0 0.0013 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.29 0.23 182 ENSG00000090975 PITPNM2 PITPNM2 . . . . . . 117 0.00180066 64976 108 0.00180042 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs368752398 . . . . . . . . . . . . . . . . . . . . . . . 0.001814 . . . . . 0.0035 0.0021 0.0004 0 0 0.0104 0.0017 0.0013 0.0008 0.0038 0.0024 0 0 0 0.0077 0.0009 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs368752398 rs368752398 1 1538 10 1/0 0,223,236 +rs61955126 12 123892095 T C - KMT5A 29489 Lysine methyltransferase 5A NM_020382.4 1 2792 1059 NP_065115.3 substitution missense exon GRCh37 123892095 123892095 Chr12(GRCh37):g.123892095T>C 904 904 NM_020382.4:c.904T>C p.Cys302Arg p.Cys302Arg 8 607240 56 3' 84.5707 9.70354 0.976068 X.17 84.5707 9.70354 0.976068 X.68 0 SET domain Histone H4-K20 methyltransferase rs61955126 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.992 3.111 C Cys TGT 0.448 R Arg CGT 0.082 302 -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 198 PASS . . . . . . . . . . . . SETD8:uc001uew.3:exon8:c.T904C:p.C302R KMT5A:NM_020382:exon8:c.T904C:p.C302R . . 0.15413533 . . @ 41 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.452 . @ . . . . . 1 0.345 . . 266.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C302R|KMT5A|mRNA|CODING|NM_020382|NM_020382.ex.8) . . . . . . . -0.2259 0.034 -0.226 c . . . . . 7.892e-06 . . . 0 1.103e-05 0 0 0 2.375e-05 0 0 0 9.421e-06 0 0 0 1.841e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.802 . . exonic exonic exonic . . 0.693 @ . . . 0.52 0.56 182 ENSG00000183955 SETD8 KMT5A . . . 0.999 0.390 . . . . . . . Uncertain_significance . 0 . 0.381 . . . . D 0.653 0.053 . . 37 . 0.569 . . 0.582 . . . 0.009 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.644 . . 0 0 0 0 0 0 . 0.158 . . 0.210 . . . . . . 0 0.122 . . . . . 0.730 . 0.572 . HET 0.54 rs61955126 0.033 0.036 . . . . . . . . . . 15.2321 . . 5.XII 5.XII . 0.080000 . . . Name\x3dnsv899579 . . 0.704 . . 5.XII . . . . . . . . . . . . . . . . . . . 0.730 . 2.063 2.063000 . . 0.080000 . . 1.0E-198 1.000 0.715 . 0.562 0.998 . 0.723 . 0.762 2.063 0.991 0.033 rs61955126 rs61955126 rs61955126 rs61955126 1 1538 10 1/0 0,189,255 +rs61955127 12 123892186 T C - KMT5A 29489 Lysine methyltransferase 5A NM_020382.4 1 2792 1059 NP_065115.3 substitution missense exon GRCh37 123892186 123892186 Chr12(GRCh37):g.123892186T>C 995 995 NM_020382.4:c.995T>C p.Leu332Pro p.Leu332Pro 8 607240 147 3' 84.5707 9.70354 0.976068 X.17 84.5707 9.70354 0.976068 X.17 0 SET domain Histone H4-K20 methyltransferase rs61955127 no no 0 T 0.000000 0 COSM4146787|COSM4146787|COSM4146787 Thyroid|Large intestine|Bone 0.001339|0.000896|0.001757 747|2231|569 transition T C T>C 1.000 4.887 L Leu CTC 0.197 P Pro CCC 0.328 332 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 228 PASS . . . . . . . . . . . . SETD8:uc001uew.3:exon8:c.T995C:p.L332P KMT5A:NM_020382:exon8:c.T995C:p.L332P . . 0.23744293 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.783 . @ . . . . . 1 0.970 . . 219.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cCc|L332P|KMT5A|mRNA|CODING|NM_020382|NM_020382.ex.8) . . . . . . . 1.0389 0.912 1.039 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.886 . . exonic exonic exonic . . 0.693 @ . . . 0.49 0.53 182 ENSG00000183955 SETD8 KMT5A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.951 0.493 . . 37 . 0.969 . . 0.987 . . . 0.985 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.910 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.531 . . . . . 0.730 . 0.996 . HET 0.02 rs61955127 . . . . . . . . . . . . 15.2321 . . 5.XII 5.XII . 0.010000 . . . Name\x3dnsv899579 . . 0.892 . . 5.XII . . . . . . . . . . . . . . . . . . . 0.730 . 2.063 2.063000 . . 0.010000 . . 1.0E-228 1.000 0.715 . 0.604 0.997 . 0.886 . 0.762 2.063 0.991 . rs61955127 rs61955127 rs61955127 rs61955127 1 1538 10 1/0 0,205,255 +rs3741614 12 129298819 C T - SLC15A4 23090 Solute carrier family 15, member 4 NM_145648.3 -1 2789 1734 NP_663623.1 Q8N697 substitution intron GRCh37 129298819 129298819 Chr12(GRCh37):g.129298819C>T 842+501 842+501 NM_145648.3:c.842+501G>A p.? p.? 2 2 615806 501 5' 81.1326 VIII.68 0.993149 4.66808 81.1326 VIII.68 0.993149 4.66808 0 New Acceptor Site 129298817 2.38655 0.008657 73.4313 rs3741614 no no 0 T 0.000000 0 transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.5203252 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . INTRON(MODIFIER||||SLC15A4|mRNA|CODING|NM_145648|) . . . . . . . -0.3211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic intronic . . . @ . . . 0.2 0.22 182 ENSG00000139370 AK001057 SLC15A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3741614 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs3741614 rs3741614 rs3741614 rs3741614 1 1538 10 1/0 0,253,255 +rs140762080 12 129559228 G A - TMEM132D 29411 Transmembrane protein 132D NM_133448.2 -1 5777 3300 NP_597705.2 Q14C87 substitution missense exon GRCh37 129559228 129559228 Chr12(GRCh37):g.129559228G>A 2492 2492 NM_133448.2:c.2492C>T p.Ser831Leu p.Ser831Leu 9 611257 377 3' 88.2006 XI.02 0.996969 XI.51 88.2006 XI.02 0.996969 XI.51 0 Cryptic Acceptor Strongly Activated 129559223 II.04 0.008938 70.755 3.85981 0.017561 74.3006 rs140762080 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000000 0.003100 0.000000 0.006000 0.004300 0.007789 0.001665 0.005782 0.030831 0.000000 0.005880 0.009416 0.005894 0.012531 0.030831 2159 40 199 313 0 181 1193 152 81 277196 24024 34420 10152 18868 30782 126696 25790 6464 0.000087 0.000000 0.000000 0.000788 0.000000 0.000065 0.000111 0.000000 0.000000 12 0 0 4 0 1 7 0 0 2135 40 199 305 0 179 1179 152 81 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4396 12922 74 10 84 0.00860465 0.00226963 0.00645856 0.00860465 0.00226963 0.00645856 126 transition C T C>T 0.000 -0.682 S Ser TCG 0.056 L Leu TTG 0.127 831 19 3 Fugu -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Tolerated 1 II.90 good 9.994E-1 0.05884 255 PASS . 0.0023 0.0028 . 0.01 . 0.0024 0.0043 . 0.006 0.0031 . . TMEM132D:NM_133448:exon9:c.C2492T:p.S831L . . 0.5508982 . . @ 92 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.002 . . 167.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S831L|TMEM132D|mRNA|CODING|NM_133448|NM_133448.ex.9) 0.0023 0.0065 0.0086 0.0023 0.0065 0.0086 . -1.4878 -1.489 -1.488 c . . . . . 7.664e-03 . . . 0.0013 0.0084 0.0063 0 0.0079 0.0129 0.0168 0.0056 0.0014 0.0073 0.0061 0 0.0074 0.0100 0.0173 0.0056 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.098 . . exonic exonic exonic . . 0.067 0.0024 . . . 0.26 0.3 182 ENSG00000151952 TMEM132D TMEM132D . . . 0.000 0.035 . 542 0.00834154 64976 530 0.00883539 59986 Likely_benign . 0 . 0.024 . . . . . . . . . 37 . 0.024 . . 0.295 . . . 0.008 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.178 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.054 . . . . . 0.003 . 0.044 . HET 0.71 rs140762080 . . . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 0.365 0.00214 . 4.II -2.15 . . . . . . 0.006459 . 0.057 . . . 0.0012 0.0080 0.0059 0.0315 0 0.0054 0.0095 0.0139 0.0059 0.0024 0.0063 0.0024 0.0099 0 0.0089 0.0088 0.0051 . . 0.372 . -0.525 -0.525000 . . . . . 1.0E-255 0.000 0.063 . 0.016 0.133 . 0.139 . 0.039 -0.525 -1.251 0.01 . . rs140762080 rs140762080 1 1538 10 1/0 0,242,255 +. 12 131620708 G T - ADGRD1 19893 Adhesion G protein-coupled receptor D1 NM_198827.3 1 5386 2625 NP_942122.2 Q6QNK2 substitution missense exon GRCh37 131620708 131620708 Chr12(GRCh37):g.131620708G>T 2394 2394 NM_198827.3:c.2394G>T p.Gln798His p.Gln798His 22 613639 -1 5' 90.3087 9.21919 0.956239 17.0505 77.6937 3.73375 0.342832 7.14037 -0.458723 GPCR, family 2, secretin-like GPCR, family 2-like transversion G T G>T 1.000 0.851 Q Gln CAG 0.744 H His CAT 0.413 798 12 10 C. elegans 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 251.61 0.00 Deleterious 0.04 II.88 bad 1.5E-3 7.584E-5 255 PASS . . . . . . . . . . . . . ADGRD1:NM_198827:exon22:c.G2394T:p.Q798H . . 0.44047618 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.692 . @ . . . . . 1 0.771 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q798H|ADGRD1|mRNA|CODING|NM_198827|NM_198827.ex.22) . . . . . . . 0.5935 0.461 0.593 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.310 @ . . . . . . ENSG00000111452 GPR133 ADGRD1 . . . 0.000 0.065 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.778 . . 0.809 . . . 0.929 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.806 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.351 . 0.868 . HET 0 . . . . . . . . . . . . . 9.0033 . ENST00000335486 4.VI II.72 . 0.000000 . 0.9999 0.988 . . . . . . II.72 . . . . . . . . . . . . . . . . . . . 0.428 . 2.081 2.081000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.384 0.888 . 0.344 . 0.613 2.081 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs113699352 12 132269830 G A - SFSWAP 10790 Splicing factor, suppressor of white-apricot family NM_001261411.1 1 3405 3012 NP_001248340.1 substitution intron GRCh37 132269830 132269830 Chr12(GRCh37):g.132269830G>A 2564+57 2564+57 NM_001261411.1:c.2564+57G>A p.? p.? 15 15 601945 57 5' 72.4613 2.56719 0.203889 0 72.4613 2.56719 0.203889 0 0 rs113699352 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.602 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.2545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.27 182 ENSG00000061936 SFSWAP SFSWAP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs113699352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs113699352 rs113699352 1 1538 10 1.I 0,0,0 +rs74749868 12 132399004 C G - ULK1 12558 Unc-51-like kinase 1 (C. elegans) NM_003565.2 1 5222 3153 NP_003556.1 O75385 substitution missense exon GRCh37 132399004 132399004 Chr12(GRCh37):g.132399004C>G 1355 1355 NM_003565.2:c.1355C>G p.Thr452Ser p.Thr452Ser 16 603168 -19 5' 82.5954 11.1124 0.994091 XI.15 82.5954 11.1124 0.994091 12.0682 0 Serine/threonine-protein kinase, Ulk1/Ulk2 rs74749868 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.000000 0.001000 0.000000 0.019900 0.007200 0.008602 0.002010 0.005877 0.000299 0.000053 0.000683 0.014523 0.008687 0.008901 0.014523 2358 48 202 3 1 21 1803 223 57 274132 23884 34372 10048 18848 30760 124146 25670 6404 0.000146 0.000000 0.000058 0.000000 0.000000 0.000000 0.000258 0.000156 0.000312 20 0 1 0 0 0 16 2 1 2318 48 200 3 1 21 1771 219 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8484 4397 12881 114 7 121 0.0132589 0.00158946 0.00930626 0.0132589 0.00158946 0.00930626 55 transversion C G C>G 0.008 0.448 T Thr ACC 0.361 S Ser AGC 0.243 452 10 8 Cow 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 71.41 56.93 Tolerated 0.42 III.95 good 6.803E-1 0.2058 255 PASS . 0.01 0.01 . 0.03 . 0.0052 0.0072 . 0.02 0.001 ENSG00000177169:ENST00000321867:exon16:c.C1355G:p.T452S ULK1:uc001uje.3:exon16:c.C1355G:p.T452S ULK1:NM_003565:exon16:c.C1355G:p.T452S . . 0.46456692 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.046 . @ . . . . . 1 0.016 . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T452S|ULK1|mRNA|CODING|NM_003565|NM_003565.ex.16) 0.0016 0.0093 0.013 0.0016 0.0093 0.013 . -0.8884 -0.881 -0.888 c . . . . . 9.287e-03 . . . 0.0023 0.0076 0.0053 0 0.0104 0.0133 0.0091 0.0006 0.0021 0.0095 0.0052 0 0.0115 0.0154 0.0060 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.679 . . exonic exonic exonic . . 0.258 0.0052 . . . 0.47 0.38 182 ENSG00000177169 ULK1 ULK1 . . . 0.947 0.277 . 722 0.0111118 64976 697 0.0116194 59986 Benign . 0 . 0.135 . . . . . . . . . 37 . 0.241 . . 0.164 . . . 0.124 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.168 . . . . . 0.052 . 0.016 . HET 0.76 rs74749868 . . . . . . . 0.009615384615384616 0.0 0.0055248618784530384 0.0 0.025065963060686015 II.82 0.001606 ENST00000321867 V.25 2.VI . 0.820000 O75385 . . . 0.009306 . 0.226 . . 2.VI 0.0020 0.0086 0.0058 0.0003 5.805e-05 0.0085 0.0148 0.0081 0.0007 0.0019 0.0084 0.0084 0 0 0.0100 0.0125 0.0132 . . 0.730 . 1.178 1.178000 . . 0.820000 . . 1.0E-255 0.001 0.137 . 0.235 0.676 . 0.250 . 0.362 1.178 -0.058 0.03 . . rs74749868 rs74749868 1 1538 10 1/0 0,249,255 +rs116870851 12 132512070 G A - EP400 11958 E1A binding protein p400 NM_015409.4 1 12317 9372 NP_056224.3 substitution synonymous exon GRCh37 132512070 132512070 Chr12(GRCh37):g.132512070G>A 5103 5103 NM_015409.4:c.5103G>A p.Pro1701= p.Pro1701Pro 26 606265 -7 5' 94.2214 9.88355 0.998887 X.94 94.2214 9.88355 0.999033 X.24 4.87209e-05 rs116870851 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.010900 0.002900 0.006627 0.001335 0.001290 0.004033 0.000000 0.000660 0.007713 0.026454 0.006274 0.026454 1816 32 44 40 0 20 964 676 40 274032 23972 34100 9918 18810 30314 124988 25554 6376 0.000109 0.000000 0.000000 0.000000 0.000000 0.000066 0.000032 0.000939 0.000000 15 0 0 0 0 1 2 12 0 1786 32 44 40 0 18 960 652 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8547 4399 12946 53 7 60 0.00616279 0.00158874 0.00461326 0.00616279 0.00158874 0.00461326 42 transition G A G>A 0.000 -3.184 P Pro CCG 0.115 P Pro CCA 0.274 1701 255 PASS . 0.01 0.01 . 0.01 . 0.0026 0.0029 . 0.011 . . . EP400:NM_015409:exon26:c.G5103A:p.P1701P . . 0.41758242 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 91.0 . . . 0.0016 0.0046 0.0062 0.0016 0.0046 0.0062 . -0.1197 . . . . . . . . 6.568e-03 . . . 0.0011 0.0051 0.0012 0 0.0293 0.0071 0.0110 0.0008 0.0009 0.0064 0.0012 0 0.0280 0.0083 0.0097 0.0008 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.26 0.23 182 ENSG00000183495 EP400 EP400 . . . . . . 522 0.00803374 64976 509 0.00848531 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116870851 . . . . . . . . . . . . . . . . . . . . . . . 0.004613 . . . . . 0.0011 0.0066 0.0013 0.0041 0 0.0268 0.0078 0.0056 0.0007 0.0017 0.0070 0.0012 0.0033 0 0.0240 0.0071 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs116870851 rs116870851 1 1538 10 1/0 0,255,255 +. 12 132630819 C T - DDX51 20082 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 NM_175066.3 -1 4718 2001 NP_778236.2 Q8N8A6 substitution upstream GRCh37 132630819 132630819 Chr12(GRCh37):g.132630819C>T -1978 -1978 NM_175066.3:c.-1978G>A p.? p.? 1 -2282 5' 79.7784 8.06623 0.442 X.77 79.7784 8.06623 0.442 X.77 0 rs1052997943 yes no Frequency 1 C 0.000000 0 0.000041 0.000171 0.000000 0.000000 0.000000 0.000045 0.000067 0.000000 0.000000 0.000171 5 1 0 0 0 1 3 0 0 123202 5838 23624 7862 9846 22444 44794 5308 3486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition G A G>A 0.016 0.367 255 PASS . . . . . . . . . . . ENSG00000184967:ENST00000541954:exon3:c.C155T:p.A52V . . . . 0.45925927 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.116 . @ . . . . . 2 0.524 . . 135.0 . . . . . . . . . . -0.7184 -0.958 -0.718 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.154 @ . . . . . . ENSG00000184967 NOC4L NOC4L . . . 1.000 0.411 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.335 . . 0.287 . . . . 0.090 . . . . . . . . . . . . . . . 0.085 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . . . 0.064 . HET . . . . . . . . . . . . . . . . ENST00000541954 0.392 0.392 . 0.230000 . . . . . . 0.037 . . . 0.0002 4.058e-05 0 0 0 0 6.697e-05 0 4.456e-05 . . . . . . . . . . 0.283 . 0.431 0.431000 . . 0.230000 . . 1.0E-255 0.003 0.159 . 0.083 0.016 . 0.084 . 0.283 0.431 0.000 . . . . . 1 1538 10 1/0 0,242,255 +. 12 132630819 C T - NOC4L 28461 Nucleolar complex associated 4 homolog NM_024078.2 1 1685 1551 NP_076983.1 Q9BVI4 substitution intron GRCh37 132630819 132630819 Chr12(GRCh37):g.132630819C>T 345+609 345+609 NM_024078.2:c.345+609C>T p.? p.? 3 3 612819 609 5' 85.2503 8.22968 0.962954 5.51816 85.2503 8.22968 0.962954 5.51816 0 rs1052997943 yes no Frequency 1 C 0.000000 0 0.000041 0.000171 0.000000 0.000000 0.000000 0.000045 0.000067 0.000000 0.000000 0.000171 5 1 0 0 0 1 3 0 0 123202 5838 23624 7862 9846 22444 44794 5308 3486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition C T C>T 0.016 0.367 255 PASS . . . . . . . . . . . ENSG00000184967:ENST00000541954:exon3:c.C155T:p.A52V . . . . 0.45925927 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.116 . @ . . . . . 2 0.524 . . 135.0 . . . . . . . . . . -0.7184 -0.958 -0.718 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.154 @ . . . . . . ENSG00000184967 NOC4L NOC4L . . . 1.000 0.411 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.335 . . 0.287 . . . . 0.090 . . . . . . . . . . . . . . . 0.085 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . . . 0.064 . HET . . . . . . . . . . . . . . . . ENST00000541954 0.392 0.392 . 0.230000 . . . . . . 0.037 . . . 0.0002 4.058e-05 0 0 0 0 6.697e-05 0 4.456e-05 . . . . . . . . . . 0.283 . 0.431 0.431000 . . 0.230000 . . 1.0E-255 0.003 0.159 . 0.083 0.016 . 0.084 . 0.283 0.431 0.000 . . . . . 1 1538 10 1/0 0,242,255 +. 12 133201440 GAGGAGGCCA G - POLE 9177 DNA polymerase epsilon, catalytic subunit NM_006231.3 -1 8005 6861 NP_006222.2 Q07864 deletion intron GRCh37 133201441 133201449 Chr12(GRCh37):g.133201441_133201449del 6747+42 6748-45 NM_006231.3:c.6747+42_6748-45del p.? p.? 48 48 174762 42 5' 79.7784 8.06623 0.844804 8.37027 79.7784 8.06623 0.844804 8.40571 0 rs148604472 yes no Frequency/1000G 2 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 218404 13734 28704 8922 16168 29658 97038 19292 4888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 85 Exomes 7164 3696 10860 1090 568 1658 0.132057 0.133208 0.132449 0.132057 0.133208 0.132449 90 TGGCCTCCT 255 Pass 0.11 0.11 0.18 0.07 0.12 . . . . . . . . . . . 0.38613862 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 101 . . . 0.14 0.13 0.13 0.13 0.13 0.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177084 POLE POLE . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs148604472 . . . . . . . . . . . . . . . . . . . . . . . 0.134904 . . . . . 0 4.579e-06 0 0 0 0 1.031e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.18 . . rs148604472 rs148604472 1 1538 10 1.I 0,12,41 +rs200926632 12 133201452 G C - POLE 9177 DNA polymerase epsilon, catalytic subunit NM_006231.3 -1 8005 6861 NP_006222.2 Q07864 substitution intron GRCh37 133201452 133201452 Chr12(GRCh37):g.133201452G>C 6747+39 6747+39 NM_006231.3:c.6747+39C>G p.? p.? 48 48 174762 39 5' 79.7784 8.06623 0.844804 8.37027 79.7784 8.06623 0.844804 8.24435 0 rs200926632 yes no Frequency/1000G 2 G 0.000000 0 8545 4390 12935 55 16 71 0.00639535 0.00363141 0.00545902 0.00639535 0.00363141 0.00545902 86 transversion C G C>G 0.000 0.770 255 PASS 0.06 0.05 0.08 0.03 0.05 . . . . . . . . . . . 0.39 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . 0.0036 0.0055 0.0064 0.0036 0.0055 0.0064 . 0.0790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.13 182 ENSG00000177084 POLE POLE . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs200926632 . . . . . . . . . . . . . . . . . . . . . . . 0.005459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.08 . . rs200926632 rs200926632 1 1538 10 1/0 0,251,255 +rs199870613 12 133424785 G A - CHFR 20455 Checkpoint with forkhead and ring finger domains NM_001161344.1 -1 3281 1995 NP_001154816.1 Q96EP1 substitution intron GRCh37 133424785 133424785 Chr12(GRCh37):g.133424785G>A 1613-44 1613-44 NM_001161344.1:c.1613-44C>T p.? p.? 14 13 605209 -44 3' 83.0499 7.97253 0.842743 VIII.05 83.0499 7.97253 0.842743 8.74386 0 rs199870613 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.000000 0.001400 0.000047 0.000501 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000501 13 12 0 0 0 0 1 0 0 276558 23972 34348 10134 18852 30662 126376 25758 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 12 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4403 13003 0 3 3 0 0.00068089 0.000230663 0 0.00068089 0.000230663 59 transition C T C>T 0.000 -1.570 255 PASS . 0.0005 0.0028 . . 0.0008 0.0004 0.0014 . . . . . . . . 0.4642857 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . -1.0369 . . . . . . . . 6.314e-05 . . . 0.0006 8.513e-05 0 0 0 2.602e-05 0 0 0.0006 6.291e-05 0 0 0 2.046e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.54 0.2 182 ENSG00000072609 CHFR CHFR . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs199870613 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 III.77 8.03E-4 ENST00000541228 IV.23 -7.88 . 0.000000 . . . . 0.000231 . . . . . 0.0005 3.665e-05 0 0 0 0 8.98e-06 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . -1.660 -1.660000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -1.660 . 0.0028 . . rs199870613 rs199870613 1 1538 10 1/0 0,255,255 +rs4758930 12 133578159 A G - ZNF26 13053 Zinc finger protein 26 NM_001256279.1 1 3281 1701 NP_001243208.1 substitution intron GRCh37 133578159 133578159 Chr12(GRCh37):g.133578159A>G 34-60 34-60 NM_001256279.1:c.34-60A>G p.? p.? 2 1 194537 -60 3' 86.294 XII.54 0.970683 9.02414 86.294 XII.54 0.970683 9.04768 0 Cryptic Acceptor Weakly Activated 133578165 7.84257 0.428756 78.0503 8.1392 0.489624 78.0503 rs4758930 yes no Frequency/HapMap/1000G 3 A 0.000000 0 transition A G A>G 0.000 -3.426 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . -1.1752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.58 0.27 182 ENSG00000198393 ZNF26 ZNF26 . . . . . . 61777 0.950766 64976 57160 0.952889 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs4758930 0.783 0.797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.78 rs4758930 rs4758930 rs4758930 rs114128839 1 1538 255 1.I 0,0,255 +rs200216202 12 133618038 C T - ZNF84 13159 Zinc finger protein 84 NM_001127372.2 1 7048 2217 NP_001120844.1 P51523 substitution 5'UTR GRCh37 133618038 133618038 Chr12(GRCh37):g.133618038C>T -16 -16 NM_001127372.2:c.-16C>T p.? p.? 2 -31 5' 95.6376 X.36 0.991777 13.9136 95.6376 X.36 0.991777 13.5194 0 Cryptic Acceptor Weakly Activated 133618045 4.72456 0.050947 79.3111 4.91809 0.100192 80.8217 rs200216202 yes no Frequency/1000G 2 0.000000 0 transition C T C>T 0.000 -0.682 255 PASS 0.02 0.02 0.02 0.01 0.02 . . . . . . . . . . . 0.42222223 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . . . . . . . . . -0.2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.64 0.42 182 ENSG00000198040 ZNF84 ZNF84 . . . . . . 353 0.00543278 64976 347 0.00578468 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200216202 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs200216202 rs200216202 1 1538 10 1/0 0,255,255 +rs7314140 12 133625276 A T - ZNF84 13159 Zinc finger protein 84 NM_001127372.2 1 7048 2217 NP_001120844.1 P51523 substitution intron GRCh37 133625276 133625276 Chr12(GRCh37):g.133625276A>T 143-63 143-63 NM_001127372.2:c.143-63A>T p.? p.? 4 3 -63 3' 93.2269 X.75 0.883026 VII.14 93.2269 X.75 0.883026 7.57491 0 Cryptic Acceptor Strongly Activated 133625283 IV.99 0.517359 75.0502 4.69929 0.867234 80.0513 rs7314140 yes no Frequency/HapMap/1000G 3 A 0.000000 0 transversion A T A>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.9714286 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.2974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.58 0.24 182 ENSG00000198040 ZNF84 ZNF84 . . . . . . 23525 0.362057 64976 22007 0.366869 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs114433683 0.424 0.435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 rs7314140 rs7314140 rs7314140 rs114433683 1 1538 255 1.I 0,0,255 +rs2088683 12 133677349 G T - ZNF140 12925 Zinc finger protein 140 NM_003440.3 1 3315 1374 NP_003431.2 P52738 substitution intron GRCh37 133677349 133677349 Chr12(GRCh37):g.133677349G>T 233-4747 233-4747 NM_003440.3:c.233-4747G>T p.? p.? 5 4 604082 -4747 3' 84.4379 X.43 0.978682 8.00895 84.4379 X.43 0.978682 8.00895 0 New Donor Site 133677347 2.51876 0.119154 61.8621 rs2088683 yes no Frequency/HapMap 2 G 0.000000 0 transversion G T G>T 0.063 0.044 255 PASS . . . . . . . . . . . . . . . . 0.35 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.3583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.17 182 ENSG00000196387 ZNF140 ZNF140 . . . . . . 3021 0.0464941 64976 2987 0.049795 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2088683 0.033 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs2088683 rs2088683 rs2088683 rs2088683 1 1538 10 1/0 0,255,255 +rs2316162 12 133677542 T C - ZNF140 12925 Zinc finger protein 140 NM_003440.3 1 3315 1374 NP_003431.2 P52738 substitution intron GRCh37 133677542 133677542 Chr12(GRCh37):g.133677542T>C 233-4554 233-4554 NM_003440.3:c.233-4554T>C p.? p.? 5 4 604082 -4554 3' 84.4379 X.43 0.978682 8.00895 84.4379 X.43 0.978682 8.00895 0 rs2316162 yes no Frequency/1000G 2 T 0.000000 0 transition T C T>C 0.315 0.044 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.1160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.18 182 ENSG00000196387 ZNF140 ZNF140 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115557381 0.261 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs2316162 rs2316162 rs2316162 rs115557381 1 1538 10 1/0 0,255,255 +rs75800806 13 19447685 C A - ANKRD20A9P 42023 Ankyrin repeat domain 20 family, member A9, pseudogene NR_027995.1 -1 37567 0 substitution upstream GRCh37 19447685 19447685 Chr13(GRCh37):g.19447685C>A -1576 -1576 NR_027995.1:n.-1576G>T p.? p.? 1 rs75800806 yes no Frequency 1 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000133 2 0 0 0 0 0 2 0 0 30948 8730 838 302 1622 0 14986 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 50 Genomes transversion G T G>T 0.000 -0.763 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 37.0 . . UPSTREAM(MODIFIER||||ANKRD20A9P|Non-coding_transcript|NON_CODING|NR_027995|) . . . . . . . -0.3330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . 0.32 0.26 182 . . . dist\x3d1578\x3bdist\x3d6509 dist\x3d1576\x3bdist\x3d31894 dist\x3d1576\x3bdist\x3d31894 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75800806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.462e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs75800806 rs75800806 1 1538 10 1/0 0,255,255 +rs528635259 13 20000621 T C - TPTE2 17299 Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 NM_199254.2 -1 1965 1569 NP_954863.2 Q6XPS3 substitution missense exon GRCh37 20000621 20000621 Chr13(GRCh37):g.20000621T>C 1339 1339 NM_199254.2:c.1339A>G p.Asn447Asp p.Asn447Asp 19 606791 37 3' 77.5282 8.26246 0.90995 VI.15 77.5282 8.26246 0.90995 6.97152 0 Tensin phosphatase, C2 domain rs528635259 yes no Frequency 1 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 276662 23914 34370 10144 18848 30744 126498 25692 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6405889 Thyroid 0.002677 747 transition A G A>G 0.000 -3.669 N Asn AAT 0.464 D Asp GAT 0.461 447 12 4 Mouse 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 115.21 0.00 Tolerated 0.76 III.41 good 5.653E-1 0.207 213 PASS . . . . . . . . . . . . . . . . 0.19642857 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.011 . . 56.0 . . . . . . . . . . -2.0219 -2.116 -2.022 c . . . . . 3.947e-05 . . . 0.0003 5.53e-05 0 0 0 4.749e-05 0 0 0.0003 4.722e-05 0 0 0 3.682e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.848 . . exonic exonic exonic . . 0.036 @ . . . . . . ENSG00000132958 TPTE2 TPTE2 . . . 0.099 0.163 . . . . . . . Uncertain_significance . 0 . 0.086 . . . . T 0.453 0.022 . . 37 . 0.584 . . 0.298 . . . 0.016 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.219 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.050 . . . . . 0.023 . 0.059 . HET 0.64 rs528635259 0.076 0.072 . . . . . . . . . . I.65 . . 2.VI -4.12 . . . . . . . . 0.014 . . . 0 4.067e-06 0 0 0 0 0 0 3.253e-05 0 0 0 0 0 0 0 0 . . 0.246 . -3.854 -3.854000 . . . . . 1.0E-213 0.000 0.063 . 0.043 0.001 . 0.039 . 0.010 -3.854 -0.891 0.076 . . . . 1 1538 10 1/0 0,255,255 +rs78472618 13 20066994 T C - TPTE2 17299 Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 NM_199254.2 -1 1965 1569 NP_954863.2 Q6XPS3 substitution missense exon GRCh37 20066994 20066994 Chr13(GRCh37):g.20066994T>C 115 115 NM_199254.2:c.115A>G p.Lys39Glu p.Lys39Glu 4 606791 -5 5' 95.331 X.37 0.994309 0 95.331 X.37 0.993339 0.50601 -0.000325184 Cryptic Acceptor Strongly Activated 20066995 4.34367 0.006658 74.1352 5.25748 0.012211 74.1352 rs78472618 yes no Frequency 1 T 0.000000 0 0.004783 0.014778 0.011371 0.000916 0.013628 0.003883 0.000891 0.004912 0.004656 0.014778 1224 282 352 9 215 114 108 116 28 255886 19082 30956 9820 15776 29360 121264 23614 6014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1224 282 352 9 215 114 108 116 28 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM226286|COSM226286|COSM226286|COSM226286|COSM226286|COSM226286 Thyroid|Skin|Prostate|Pancreas|Liver|Large intestine 0.002677|0.000812|0.001134|0.000569|0.000422|0.000448 747|1232|1764|1758|2371|2231 transition A G A>G 0.000 -0.602 K Lys AAA 0.425 E Glu GAA 0.417 39 12 5 Mouse 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 149.23 0.00 Tolerated 0.95 III.41 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.3809524 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.016 . . 21.0 . . . . . . . . . . -1.4544 -1.569 -1.454 c . . . . . 7.025e-04 . . . 0.0036 0.0008 0.0005 0.0016 0 0.0004 0 0.0001 0.0010 0.0001 0.0002 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.951 . . exonic exonic exonic . . 0.081 @ . . . 0.16 0.09 182 ENSG00000132958 TPTE2 TPTE2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.115 0.005 . . 37 . 0.839 . . 0.697 . . . 0.024 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.073 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.282 . . . . . 0.103 . 0.182 . HET 0 rs78472618 . . . . . . . . . . . . IV.42 . . 1.III -1.53 . . . . . . . . 0.003 . . . 0.0134 0.0045 0.0114 0.0008 0.0134 0.0052 0.0007 0.0047 0.0039 0.0176 0.0072 0.0107 0.0038 0.0159 0.0028 0.0026 0.0046 . . 0.428 . -0.630 -0.630000 . . . . . 1.0E-255 0.000 0.063 . 0.016 0.004 . 0.021 . 0.016 -0.630 -0.526 . . . rs78472618 rs78472618 1 1538 10 1/0 0,255,255 +rs200516102 13 20279879 T C - PSPC1 20320 Paraspeckle component 1 NM_001042414.3 -1 2401 1572 NP_001035879.1 Q8WXF1 substitution missense exon GRCh37 20279879 20279879 Chr13(GRCh37):g.20279879T>C 1309 1309 NM_001042414.3:c.1309A>G p.Met437Val p.Met437Val 9 612408 -78 5' 71.0227 IV.44 0.236151 0 71.0227 IV.44 0.236151 0 0 New Donor Site 20279880 3.06578 0.044143 64.5067 rs200516102 yes no Frequency 1 T 0.000000 0 0.000572 0.002253 0.000327 0.000000 0.000319 0.000266 0.000564 0.000118 0.000960 0.002253 154 51 11 0 6 8 69 3 6 269136 22640 33618 9896 18804 30036 122416 25478 6248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 154 51 11 0 6 8 69 3 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1317936|COSM1317936|COSM1317936 Upper aerodigestive tract|Liver|Haematopoietic and lymphoid tissue 0.001606|0.000422|0.000283 1245|2371|3530 transition A G A>G 0.992 0.528 M Met ATG 1.000 V Val GTG 0.468 437 12 7 Chicken 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 257.76 0.00 Tolerated 0.6 III.47 237 PASS . . . . . . . . . . . ENSG00000121390:ENST00000338910:exon8:c.A1309G:p.M437V PSPC1:uc021rgx.1:exon9:c.A1309G:p.M437V PSPC1:NM_001042414:exon9:c.A1309G:p.M437V . . 0.26785713 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.141 . . 56.0 . . . . . . . . . . -0.4521 -0.271 -0.452 c . . . . . 4.099e-03 . . . 0.0093 0.0033 0.0022 0.0005 0.0008 0.0040 0 0.0004 0.0081 0.0021 0.0020 0 0.0005 0.0023 0.0015 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.133 . . exonic exonic exonic . . 0.334 @ . . . 0.42 0.42 182 ENSG00000121390 PSPC1 PSPC1 . . . 0.309 0.193 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.078 0.003 . . 37 . 0.085 . . 0.263 . . . 0.413 0.294 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.160 . . 0 0 0 0 0 0 . 0.151 . . 0.121 . . . . . . 2 0.101 . . . . . 0.354 . 0.379 . HET 0.33 rs200516102 . . . . . . . . . . . . 9.0578 . . V.29 II.98 . 0.570000 Q8WXF1 . . . . . 0.364 . . II.98 0.0020 0.0005 0.0003 0 0.0002 0.0001 0.0006 0.0009 0.0003 0.0027 0.0009 0 0 0.0012 0 0.0002 0.0010 . . 0.924 . 0.844 0.844000 . . 0.570000 . . 1.0E-237 1.000 0.715 . 0.888 0.998 . 0.281 . 0.425 0.844 -0.013 . . . rs200516102 rs200516102 1 1538 10 1/0 0,255,255 +rs185714432 13 20637071 A G - ZMYM2 12989 Zinc finger MYM-type containing 2 NM_001190964.2 1 10154 4134 NP_001177893.1 Q9UBW7 substitution synonymous exon GRCh37 20637071 20637071 Chr13(GRCh37):g.20637071A>G 2997 2997 NM_001190964.2:c.2997A>G p.Pro999= p.Pro999Pro 19 602221 -41 5' 67.9887 6.43132 0.759052 3.18538 67.9887 6.43132 0.759052 3.41565 0 New Donor Site 20637070 2.70583 0.09508 61.9655 rs185714432 yes no Frequency/1000G 2 A 0.000000 0 0.001198 0.000800 0.001000 0.000000 0.001000 0.004300 0.001205 0.000347 0.000486 0.000816 0.000000 0.000906 0.001940 0.000397 0.002902 0.001940 317 8 16 8 0 26 231 10 18 263150 23078 32890 9798 18174 28700 119096 25212 6202 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000322 1 0 0 0 0 0 0 0 1 315 8 16 8 0 26 231 10 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8185 3732 11917 23 0 23 0.00280214 0 0.0019263 0.00280214 0 0.0019263 89 COSM5019295 Soft tissue 0.001767 566 transition A G A>G 0.984 -0.279 P Pro CCA 0.274 P Pro CCG 0.115 999 255 PASS . 0.0014 0.01 . 0.0013 0.0008 0.0012 0.0043 . 0.001 0.001 . . . . . 0.44186047 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . 0.0019 0.0028 . 0.0019 0.0028 . I.77 . . . . . . . . 1.281e-03 . . . 0.0002 0.0023 0.0017 0 0.0016 0.0040 0.0024 0.0014 0.0002 0.0022 0.0018 0 0.0010 0.0037 0.0028 0.0014 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.42 0.17 182 ENSG00000121741 ZMYM2 ZMYM2 . . . . . . 80 0.00123122 64976 74 0.00123362 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185714432 . . . . . . . . . . . . . . . . . . . . . . . 0.001926 . . . . . 0.0003 0.0012 0.0004 0.0008 0 0.0004 0.0020 0.0033 0.0009 0.0005 0.0009 0.0024 0 0 0.0003 0.0013 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs185714432 rs185714432 1 1538 10 1/0 0,255,255 +rs542377365 13 25027623 T G - PARP4 271 Poly (ADP-ribose) polymerase family, member 4 NM_006437.3 -1 5469 5175 NP_006428.2 Q9UKK3 substitution intron GRCh37 25027623 25027623 Chr13(GRCh37):g.25027623T>G 2826+102 2826+102 NM_006437.3:c.2826+102A>C p.? p.? 23 23 607519 102 5' 86.8199 10.1256 0.989275 5.96394 86.8199 10.1256 0.989275 5.96394 0 rs542377365 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000518 0.000000 0.000000 0.000000 0.000000 0.000000 0.000935 0.000288 0.001018 0.000935 16 0 0 0 0 0 14 1 1 30892 8710 836 302 1618 0 14974 3470 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 0 0 0 0 14 1 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion A C A>C 0.000 -2.216 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.55172414 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||PARP4|mRNA|CODING|NM_006437|) . . . . . . . -0.6417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000205822 PARP4 PARP4 . . . . . . 7 0.000107732 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs542377365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0 0 0.0003 0.0009 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs9507413 13 25373634 A G - RNF17 10060 Ring finger protein 17 NM_031277.2 1 5108 4872 NP_112567.2 Q9BXT8 substitution missense exon GRCh37 25373634 25373634 Chr13(GRCh37):g.25373634A>G 1501 1501 NM_031277.2:c.1501A>G p.Ser501Gly p.Ser501Gly 12 605793 -89 5' 71.4086 5.84705 0.346028 0 71.4086 5.84705 0.346028 0 0 Cryptic Acceptor Strongly Activated 25373645 0.003403 4.90552 0.005115 72.7878 Maternal tudor protein rs9507413 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.001997 0.000800 0.001000 0.000000 0.005000 0.004300 0.004118 0.000749 0.001457 0.000493 0.000000 0.002051 0.006905 0.004269 0.003255 0.006905 1139 18 50 5 0 63 872 110 21 276562 24022 34308 10142 18862 30720 126286 25770 6452 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 1133 18 50 5 0 63 866 110 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8530 4398 12928 66 8 74 0.00767799 0.00181571 0.00569143 0.00767799 0.00181571 0.00569143 102 transition A G A>G 1.000 1.335 S Ser AGT 0.149 G Gly GGT 0.162 501 11 6 Cow 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 208.58 0.00 Tolerated 0.78 III.64 unknown 0.0 0.0 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.002 0.0043 . 0.005 0.001 . . . . . 0.5 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.313 . @ . . . . . 1 0.119 . . 40.0 . . . 0.0018 0.0057 0.0077 0.0018 0.0057 0.0077 . -0.4914 -0.306 -0.491 c . . . . . 4.388e-03 . . . 0.0010 0.0038 0.0022 0 0.0039 0.0063 0.0056 0.0017 0.0008 0.0041 0.0021 0 0.0039 0.0064 0.0029 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.263 . . exonic exonic exonic . . 0.336 0.0020 . . . 0.32 0.29 182 ENSG00000132972 RNF17 RNF17 . . . 0.000 0.052 . 427 0.00657166 64976 419 0.00698496 59986 Uncertain_significance . 0 . 0.357 . . . . T 0.168 0.006 . . 37 . 0.077 . . 0.144 . . . 0.413 0.255 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.103 . . 0 0 0 0 0 0 . 0.090 . . 0.104 . . . . . . 0 0.072 . . . . . 0.140 . 0.058 . HET 0.39 rs9507413 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0 0.0 0.0013192612137203166 5.1084 0.002408 . V.41 3.0 . 0.390000 . . . Name\x3dnsv899941 0.005691 . 0.261 . . 3 0.0007 0.0040 0.0014 0.0005 0 0.0042 0.0068 0.0022 0.0021 0.0008 0.0049 0.0036 0 0 0.0046 0.0077 0.0092 . . 0.133 . 1.066 1.066000 . . 0.390000 . . 1.0E-255 1.000 0.715 . 0.604 0.964 . 0.421 . 0.960 1.066 0.126 0.0077 rs9507413 rs9507413 rs9507413 rs9507413 1 1538 10 1/0 0,255,255 +rs137852783 13 28494501 G A - PDX1 6107 Pancreatic and duodenal homeobox 1 NM_000209.3 1 2573 852 NP_000200.1 P52945 substitution missense exon GRCh37 28494501 28494501 Chr13(GRCh37):g.28494501G>A 226 226 NM_000209.3:c.226G>A p.Asp76Asn p.Asp76Asn 1 600733 -181 5' 94.2214 9.88355 0.994166 9.82653 94.2214 9.88355 0.994166 9.82653 0 rs137852783 yes no Frequency/1000G 2 G not_provided,likely_benign,risk_factor 0.000000 0 0.001997 0.000000 0.005100 0.000000 0.003000 0.002900 0.002751 0.001134 0.002275 0.002660 0.000000 0.001814 0.004760 0.000498 0.002575 0.004760 468 17 56 22 0 41 311 9 12 170108 14992 24610 8272 11568 22598 65330 18078 4660 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 2 0 0 0 0 0 2 0 0 464 17 56 22 0 41 307 9 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6920 3441 10361 22 1 23 0.00316912 0.000290529 0.00221495 0.00316912 0.000290529 0.00221495 3 RCV000246150.2|RCV000030077.2|RCV000445407.1|RCV000009409.3 germline|germline|germline|unknown|germline clinical testing|clinical testing|clinical testing|research|literature only Conflicting interpretations of pathogenicity|Not provided|Likely benign|Risk factor 1|0|1|0 not specified|Maturity-onset diabetes of the young, type 4|Monogenic diabetes|Diabetes mellitus type 2 CM992901 Diabetes mellitus, type 2, association with 10545530 DP transition G A G>A 1.000 3.676 D Asp GAC 0.539 N Asn AAC 0.536 76 11 10 Tetraodon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 44.60 XI.33 Deleterious 0.02 III.78 bad 1.686E-3 0.0003603 255 PASS . . . . . . 0.002 0.0029 . 0.003 0.0051 ENSG00000139515:ENST00000381033:exon1:c.G226A:p.D76N PDX1:uc001urt.2:exon1:c.G226A:p.D76N PDX1:NM_000209:exon1:c.G226A:p.D76N . . 0.5 . . germline 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.648 . risk//\@factor//\%//\@not//\@provided//\%//\@Benign other|not_provided|Benign RCV000009409.3|RCV000030077.2|RCV000246150.1 . .|MedGen:OMIM|MedGen .|C1833382:606392|CN169374 1 0.905 . . 36.0 . . . 0.0003 0.0022 0.0032 0.0003 0.0022 0.0032 . 0.1181 0.172 0.118 c . . . . . 1.104e-03 . . . 0 0.0037 0 0 0 0.0052 0.0078 0.0033 0 0.0035 0 0 0 0.0045 0.0086 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.866 . . exonic exonic exonic . . 0.469 0.0020 . . . 0.39 0.42 182 ENSG00000139515 PDX1 PDX1 . . . 1.000 0.747 . 169 0.00260096 64976 159 0.00265062 59986 Benign . 0 . 0.407 . . . . D 0.877 0.218 . . 37 . 0.839 . . 0.815 . . . 0.474 0.453 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.399 . . 0 0 0 0 1 0 . 0.349 . . 0.313 . . . . . . 1 0.682 . . . . . 0.633 . 0.112 . HET 0.01 rs137852783 . . CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 . . . . . . 13.9232 3.53E-4 ENST00000381033 IV.96 4.IX . 0.210000 P52945 . . . 0.002215 . 0.856 . . 4.IX 0.0011 0.0028 0.0023 0.0026 0 0.0006 0.0050 0.0022 0.0018 0.0012 0.0025 0.0024 0.0033 0 0 0.0040 0.0041 . . 0.340 . 1.027 1.027000 . . 0.210000 . . 1.0E-255 1.000 0.715 . 0.371 0.438 . 0.717 . 0.594 1.027 0.917 0.0032 . . rs137852783 . 1 1538 10 1/0 0,255,255 +rs137852783 13 28494501 G A - PDX1-AS1 43698 PDX1 antisense RNA 1 NR_047484.1 -1 2002 0 substitution intron GRCh37 28494501 28494501 Chr13(GRCh37):g.28494501G>A 241+800 241+800 NR_047484.1:n.241+800C>T p.? p.? 1 1 800 5' 77.8901 8.0235 0.981335 XI.23 77.8901 8.0235 0.981335 XI.23 0 rs137852783 yes no Frequency/1000G 2 G not_provided,likely_benign,risk_factor 0.000000 0 0.001997 0.000000 0.005100 0.000000 0.003000 0.002900 0.002751 0.001134 0.002275 0.002660 0.000000 0.001814 0.004760 0.000498 0.002575 0.004760 468 17 56 22 0 41 311 9 12 170108 14992 24610 8272 11568 22598 65330 18078 4660 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 2 0 0 0 0 0 2 0 0 464 17 56 22 0 41 307 9 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6920 3441 10361 22 1 23 0.00316912 0.000290529 0.00221495 0.00316912 0.000290529 0.00221495 3 RCV000009409.3|RCV000246150.2|RCV000030077.2|RCV000445407.1 germline|germline|germline|germline|unknown literature only|clinical testing|clinical testing|clinical testing|research Risk factor|Conflicting interpretations of pathogenicity|Not provided|Likely benign 0|1|0|1 Diabetes mellitus type 2|not specified|Maturity-onset diabetes of the young, type 4|Monogenic diabetes transition C T C>T 1.000 3.676 255 PASS . . . . . . 0.002 0.0029 . 0.003 0.0051 ENSG00000139515:ENST00000381033:exon1:c.G226A:p.D76N PDX1:uc001urt.2:exon1:c.G226A:p.D76N PDX1:NM_000209:exon1:c.G226A:p.D76N . . 0.5 . . germline 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.648 . risk//\@factor//\%//\@not//\@provided//\%//\@Benign other|not_provided|Benign RCV000009409.3|RCV000030077.2|RCV000246150.1 . .|MedGen:OMIM|MedGen .|C1833382:606392|CN169374 1 0.905 . . 36.0 . . . 0.0003 0.0022 0.0032 0.0003 0.0022 0.0032 . 0.1181 0.172 0.118 c . . . . . 1.104e-03 . . . 0 0.0037 0 0 0 0.0052 0.0078 0.0033 0 0.0035 0 0 0 0.0045 0.0086 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.866 . . exonic exonic exonic . . 0.469 0.0020 . . . 0.39 0.42 182 ENSG00000139515 PDX1 PDX1 . . . 1.000 0.747 . 169 0.00260096 64976 159 0.00265062 59986 Benign . 0 . 0.407 . . . . D 0.877 0.218 . . 37 . 0.839 . . 0.815 . . . 0.474 0.453 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.399 . . 0 0 0 0 1 0 . 0.349 . . 0.313 . . . . . . 1 0.682 . . . . . 0.633 . 0.112 . HET 0.01 rs137852783 . . CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 . . . . . . 13.9232 3.53E-4 ENST00000381033 IV.96 4.IX . 0.210000 P52945 . . . 0.002215 . 0.856 . . 4.IX 0.0011 0.0028 0.0023 0.0026 0 0.0006 0.0050 0.0022 0.0018 0.0012 0.0025 0.0024 0.0033 0 0 0.0040 0.0041 . . 0.340 . 1.027 1.027000 . . 0.210000 . . 1.0E-255 1.000 0.715 . 0.371 0.438 . 0.717 . 0.594 1.027 0.917 0.0032 . . rs137852783 . 1 1538 10 1/0 0,255,255 +rs143491352 13 36871908 A T - CCDC169 34361 Coiled-coil domain containing 169 NM_001198908.1 -1 1021 726 NP_001185837.1 substitution 5'UTR GRCh37 36871908 36871908 Chr13(GRCh37):g.36871908A>T -52 -52 NM_001198908.1:c.-52T>A p.? p.? 1 -135 5' 80.4469 7.97184 0.984625 6.64827 80.4469 7.97184 0.984625 6.64827 0 New Acceptor Site 36871906 3.79934 0.039804 72.0603 rs143491352 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.000000 0.001000 0.000000 0.010900 0.007200 0.007204 0.002408 0.008353 0.003311 0.000000 0.000000 0.011665 0.003723 0.006122 0.011665 223 21 7 1 0 0 175 13 6 30956 8720 838 302 1622 0 15002 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 21 7 1 0 0 175 13 6 0 0 0 0 0 0 0 0 0 PASS 42 Genomes 3138 1382 4520 44 2 46 0.0138278 0.00144509 0.0100745 0.0138278 0.00144509 0.0100745 34 transversion T A T>A 0.000 -0.117 255 PASS . 0.01 0.01 . 0.01 . 0.0034 0.0072 . 0.011 0.001 . . . . . 0.54867256 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . 0.0014 0.01 0.014 0.0014 0.01 0.014 . 0.7966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.0034 . . . 0.5 0.48 182 . . . . . . . . . 723 0.0111272 64976 706 0.0117694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs143491352 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv899993 0.010074 . . . . . . . . . . . . . . 0.0024 0.0072 0.0084 0.0033 0 0.0037 0.0117 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 . . rs143491352 rs143491352 1 1538 10 1/0 0,255,255 +rs143491352 13 36871908 A T - CCDC169-SOHLH2 38866 CCDC169-SOHLH2 readthrough NM_001198910.1 -1 2650 1509 NP_001185839.1 substitution 5'UTR GRCh37 36871908 36871908 Chr13(GRCh37):g.36871908A>T -231 -231 NM_001198910.1:c.-231T>A p.? p.? 1 -135 5' 80.4469 7.97184 0.984625 6.64827 80.4469 7.97184 0.984625 6.64827 0 New Acceptor Site 36871906 3.79934 0.039804 72.0603 rs143491352 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.000000 0.001000 0.000000 0.010900 0.007200 0.007204 0.002408 0.008353 0.003311 0.000000 0.000000 0.011665 0.003723 0.006122 0.011665 223 21 7 1 0 0 175 13 6 30956 8720 838 302 1622 0 15002 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 21 7 1 0 0 175 13 6 0 0 0 0 0 0 0 0 0 PASS 42 Genomes 3138 1382 4520 44 2 46 0.0138278 0.00144509 0.0100745 0.0138278 0.00144509 0.0100745 34 transversion T A T>A 0.000 -0.117 255 PASS . 0.01 0.01 . 0.01 . 0.0034 0.0072 . 0.011 0.001 . . . . . 0.54867256 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . 0.0014 0.01 0.014 0.0014 0.01 0.014 . 0.7966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.0034 . . . 0.5 0.48 182 . . . . . . . . . 723 0.0111272 64976 706 0.0117694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs143491352 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv899993 0.010074 . . . . . . . . . . . . . . 0.0024 0.0072 0.0084 0.0033 0 0.0037 0.0117 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 . . rs143491352 rs143491352 1 1538 10 1/0 0,255,255 +rs143571375 13 39433637 C T - FREM2 25396 FRAS1 related extracellular matrix protein 2 NM_207361.5 1 16163 9510 NP_997244.4 Q5SZK8 substitution missense exon GRCh37 39433637 39433637 Chr13(GRCh37):g.39433637C>T 7429 7429 NM_207361.5:c.7429C>T p.Arg2477Trp p.Arg2477Trp 14 608945 -91 5' 89.8108 8.67858 0.957362 5.69153 89.8108 8.67858 0.957362 5.69153 0 Cryptic Acceptor Weakly Activated 39433646 3.25652 0.014076 69.5873 2.37693 0.034343 72.2992 rs143571375 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000939 0.000166 0.000203 0.000296 0.000000 0.000065 0.001591 0.001008 0.002633 0.001591 260 4 7 3 0 2 201 26 17 276786 24028 34410 10138 18860 30782 126326 25786 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 260 4 7 3 0 2 201 26 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 96 transition C T C>T 0.047 0.044 R Arg CGG 0.207 W Trp TGG 1.000 2477 14 12 Tetraodon -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . ENSG00000150893:ENST00000280481:exon14:c.C7429T:p.R2477W . FREM2:NM_207361:exon14:c.C7429T:p.R2477W . . 0.4909091 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.824 . @ . . . . . 1 0.933 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R2477W|FREM2|mRNA|CODING|NM_207361|NM_207361.ex.14) . 0.0008 0.0012 . 0.0008 0.0012 . -0.0037 -0.252 -0.004 c . . . . . 8.997e-04 . . . 0.0002 0.0007 8.66e-05 0 0.0005 0.0014 0 6.062e-05 0.0002 0.0007 8.93e-05 0 0.0009 0.0012 0.0014 6.097e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.241 . . exonic exonic exonic . . 0.084 0.0004 . . . 0.28 0.29 182 ENSG00000150893 FREM2 FREM2 . . . 0.003 0.099 . 69 0.00106193 64976 67 0.00111693 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.588 0.039 . . 37 . 0.558 . . 0.718 . . . 0.794 0.424 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.883 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.721 . . . . . 1.000 . 0.929 . HET 0 rs143571375 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 21.7857 0.0 ENST00000280481 VI.16 -1.42 . 0.000000 . . . . 0.000769 . 0.198 . . . 0.0001 0.0008 0.0002 0.0003 0 0.0010 0.0014 0.0018 6.497e-05 0.0002 0.0018 0 0 0 0.0011 0.0029 0.0071 . . 0.609 . -0.165 -0.165000 . . 0.000000 . . 1.0E-255 0.105 0.227 . 0.183 0.969 . 0.253 . 0.058 -0.165 -0.444 0.0026 . . rs143571375 rs143571375 1 1538 10 1/0 0,255,255 +rs45508796 13 40230035 G A - COG6 18621 Component of oligomeric golgi complex 6 NM_020751.2 1 3609 1974 NP_065802.1 Q9Y2V7 substitution intron GRCh37 40230035 40230035 Chr13(GRCh37):g.40230035G>A 153+19 153+19 NM_020751.2:c.153+19G>A p.? p.? 1 1 606977 19 5' 81.2188 9.23916 0.937736 15.1979 81.2188 9.23916 0.937736 14.5074 0 rs45508796 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.004288 0.000871 0.005319 0.000625 0.000116 0.002527 0.006763 0.001247 0.003080 0.006763 1052 18 170 6 2 72 738 28 18 245324 20670 31962 9602 17178 28496 109122 22450 5844 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1044 18 170 6 2 72 730 28 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8457 4339 12796 61 3 64 0.00716131 0.000690926 0.00497667 0.00716131 0.000690926 0.00497667 11 RCV000443205.1 germline clinical testing Likely benign 1 not specified transition G A G>A 0.008 1.255 255 PASS . 0.0023 . . 0.01 0.0008 0.0014 0.0029 . 0.004 . . . . . . 0.5 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0007 0.005 0.0072 0.0007 0.005 0.0072 . 1.1693 . . . . . . . . 3.920e-03 . . . 0.0011 0.0057 0.0060 0 0.0013 0.0090 0.0047 0.0031 0.0011 0.0053 0.0062 0 0.0008 0.0075 0.0050 0.0032 . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.19 0.36 182 ENSG00000133103 COG6 COG6 . . . . . . 253 0.00389375 64976 247 0.00411763 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45508796 . . . . . . . . . . . . . . . . . . . . . . . 0.004977 . . . . II.85 0.0008 0.0043 0.0053 0.0006 0.0001 0.0010 0.0068 0.0029 0.0025 0.0009 0.0039 0.0060 0 0 0.0026 0.0063 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs45508796 rs45508796 rs45508796 rs45508796 1 1538 10 1/0 0,255,255 +. 13 41240129 A C - FOXO1 3819 Forkhead box O1 NM_002015.3 -1 5738 1968 NP_002006.2 Q12778 substitution missense exon GRCh37 41240129 41240129 Chr13(GRCh37):g.41240129A>C 221 221 NM_002015.3:c.221T>G p.Leu74Arg p.Leu74Arg 1 136533 -410 5' 95.331 X.37 0.990087 XII.93 95.331 X.37 0.990087 XII.93 0 transversion T G T>G 1.000 1.416 L Leu CTG 0.404 R Arg CGG 0.207 74 16 11 C. elegans -2 -2 -4 0 0.65 4.IX 10.V 111 124 102 C0 353.86 0.00 Deleterious 0.01 III.48 bad 3.228E-6 0.0003794 207 PASS . . . . . . . . . . . ENSG00000150907:ENST00000379561:exon1:c.T221G:p.L74R . FOXO1:NM_002015:exon1:c.T221G:p.L74R . . 0.18181819 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.120 . @ . . . . . 1 0.386 . . 33.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L74R|FOXO1|mRNA|CODING|NM_002015|NM_002015.ex.1) . . . . . . . -0.1683 -0.360 -0.168 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.946 . . exonic exonic exonic . . 0.191 @ . . . . . . ENSG00000150907 FOXO1 FOXO1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.013 . . . . D 0.997 0.956 . . 37 . 0.960 . . 0.851 . . . 0.263 0.358 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.715 . . 0.832 . . . . . . 0 0.316 . . . . . 0.149 . 0.451 . HET 0 . . . . . . . . . . . . . V.92 . ENST00000379561 III.64 1.IV . 0.300000 Q12778 . . . . . 0.352 . . . . . . . . . . . . . . . . . . . . . . 0.401 . 0.035 0.035000 . . 0.300000 . . 1.0E-207 1.000 0.715 . 0.888 1.000 . 0.412 . 0.564 0.035 1.039 . . . . . 1 1538 10 1.I 0,0,0 +. 13 41932578 A C - NAA16 26164 N(alpha)-acetyltransferase 16, NatA auxiliary subunit NM_024561.4 1 4347 2595 NP_078837.3 Q6N069 substitution missense exon GRCh37 41932578 41932578 Chr13(GRCh37):g.41932578A>C 1226 1226 NM_024561.4:c.1226A>C p.Glu409Ala p.Glu409Ala 11 -32 5' 82.2129 8.37568 0.678978 0 82.2129 8.37568 0.678978 0.498349 0 Alpha-acetyltransferase 15, NatA Tetratricopeptide repeat Tetratricopeptide repeat-containing transversion A C A>C 1.000 4.322 E Glu GAA 0.417 A Ala GCA 0.226 409 12 12 Baker's yeast -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C65 0.00 106.71 Deleterious 0 3.IX bad 7.242E-5 7.558E-5 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.596 . @ . . . . . 1 0.549 . . 24.0 . . . . . . . . . . 0.6902 0.561 0.690 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.571 . . exonic exonic exonic . . 0.615 @ . . . . . . ENSG00000172766 NAA16 NAA16 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.414 . . . . D 0.664 0.056 . . 37 . 0.762 . . 0.821 . . . 0.936 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.868 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.682 . . . . . 0.661 . 0.894 . HET 0 . . . . . . . . . . . . . 14.3529 . . IV.82 IV.82 . 0.020000 . . . . . . 0.848 . . IV.82 . . . . . . . . . . . . . . . . . . . 0.465 . 1.788 1.788000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.653 1.000 . 0.908 . 0.893 1.788 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs138605281 13 46726923 C T - LCP1 6528 Lymphocyte cytosolic protein 1 (L-plastin) NM_002298.4 -1 3790 1884 NP_002289.2 P13796 substitution missense exon GRCh37 46726923 46726923 Chr13(GRCh37):g.46726923C>T 731 731 NM_002298.4:c.731G>A p.Arg244Lys p.Arg244Lys 7 153430 -9 5' 94.3644 X.71 0.997353 6.00256 94.3644 X.71 0.997353 6.0553 0 Cryptic Acceptor Strongly Activated 46726925 1.25639 0.00119 64.2311 1.84334 0.001353 64.2311 rs138605281 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000723 0.000042 0.000263 0.000296 0.000000 0.000847 0.001195 0.000272 0.000466 0.001195 200 1 9 3 0 26 151 7 3 276570 24028 34276 10124 18850 30708 126392 25752 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 200 1 9 3 0 26 151 7 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 80 transition G A G>A 1.000 3.757 R Arg AGA 0.205 K Lys AAA 0.425 244 12 8 Frog 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 170.63 0.00 Tolerated 1 II.98 good 8.981E-1 0.4048 249 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . LCP1:NM_002298:exon7:c.G731A:p.R244K . . 0.30612245 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.356 . @ . . . . . 1 0.373 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R244K|LCP1|mRNA|CODING|NM_002298|NM_002298.ex.7) . 0.0008 0.0012 . 0.0008 0.0012 . -0.2114 0.027 -0.211 c . . . . . 7.577e-04 . . . 9.641e-05 0.0008 0.0003 0 0.0005 0.0012 0.0014 0.0007 0.0001 0.0007 0.0004 0 0.0003 0.0011 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.952 . . exonic exonic exonic . . 0.789 0.0004 . . . 0.6 0.57 182 ENSG00000136167 LCP1 LCP1 . . . 1.000 0.747 . 42 0.000646393 64976 40 0.000666822 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.718 0.073 . . 37 . 0.880 . . 0.825 . . . 0.157 0.489 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.262 . . 0 0 0 0 0 0 . 0.112 . . 0.112 . . . . . . 0 0.282 . . . . . 0.899 . 0.365 . HET 0.09 rs138605281 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 18.2454 0.0 . V.43 V.43 . 1.000000 P13796 . . . 0.000769 . 0.494 . . V.43 6.539e-05 0.0007 0.0002 0.0003 0 0.0002 0.0012 0.0004 0.0008 0 0.0008 0.0012 0 0 0.0009 0.0013 0.0010 . . 0.406 . 2.546 2.546000 . . 1.000000 . . 1.0E-249 1.000 0.715 . 0.888 1.000 . 0.687 . 0.391 2.546 0.871 0.0013 . . rs138605281 rs138605281 1 1538 10 1/0 0,255,255 +rs575943247 13 46728860 T C - LCP1 6528 Lymphocyte cytosolic protein 1 (L-plastin) NM_002298.4 -1 3790 1884 NP_002289.2 P13796 substitution intron GRCh37 46728860 46728860 Chr13(GRCh37):g.46728860T>C 573+80 573+80 NM_002298.4:c.573+80A>G p.? p.? 6 6 153430 80 5' 89.8263 9.80181 0.996909 7.63395 89.8263 9.80181 0.996909 7.43581 0 Cryptic Acceptor Strongly Activated 46728850 0.01409 3.04831 0.045727 71.2816 rs575943247 yes no Frequency/1000G 2 T 0.000599 C 3 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002940 0.000573 0.002387 0.000000 0.000000 0.000000 0.003134 0.010029 0.002037 0.010029 91 5 2 0 0 0 47 35 2 30956 8728 838 302 1618 0 14998 3490 982 0.010989 0.000000 0.000000 0.000000 0.000000 0.000000 0.021277 0.000000 0.000000 1 0 0 0 0 0 1 0 0 89 5 2 0 0 0 45 35 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 0.851 255 PASS . . . . . . 0.0006 . . 0.003 . . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||LCP1|mRNA|CODING|NM_002298|) . . . . . . . 0.4727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . ENSG00000136167 LCP1 LCP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs575943247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.85 . . . . . . . . . 0.0006 0.0029 0.0024 0 0 0.0100 0.0031 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs545842697 13 46919799 G A - RUBCNL 20420 RUN and cysteine rich domain containing beclin 1 interacting protein like NM_001286761.2 -1 4218 1989 NP_001273690.1 Q9H714 substitution intron GRCh37 46919799 46919799 Chr13(GRCh37):g.46919799G>A 1632-64 1632-64 NM_001286761.2:c.1632-64C>T p.? p.? 13 12 -64 3' 83.5228 9.0392 0.740523 9.89434 83.5228 9.0392 0.740523 9.97192 0 46919796 -13.8503 rs545842697 yes no Frequency 1 G 0.000000 0 0.000291 0.000115 0.002387 0.000000 0.000000 0.000000 0.000267 0.000287 0.001022 0.002387 9 1 2 0 0 0 4 1 1 30938 8722 838 302 1620 0 14988 3490 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 2 0 0 0 4 1 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.47457626 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000241353 KIAA0226L KIAA0226L . . . . . . 84 0.00129279 64976 84 0.00140033 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs545842697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0024 0 0 0.0003 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs138866196 13 49761277 C A - FNDC3A 20296 Fibronectin type III domain containing 3A NM_001079673.1 1 6286 3597 NP_001073141.1 Q9Y2H6 substitution synonymous exon GRCh37 49761277 49761277 Chr13(GRCh37):g.49761277C>A 1776 1776 NM_001079673.1:c.1776C>A p.Gly592= p.Gly592Gly 16 615794 20 3' 76.3139 6.94778 0.964279 7.66572 76.3139 6.94778 0.952806 7.43682 -0.003966 Fibronectin, type III transversion C A C>A 1.000 1.093 G Gly GGC 0.342 G Gly GGA 0.246 592 255 PASS . . . . . . . . . . . . . . . . 0.6486486 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . I.63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.51 0.24 182 ENSG00000102531 FNDC3A FNDC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs202101950 13 49794777 C T - MLNR 4495 Motilin receptor NM_001507.1 1 1239 1239 NP_001498.1 O43193 substitution missense exon GRCh37 49794777 49794777 Chr13(GRCh37):g.49794777C>T 304 304 NM_001507.1:c.304C>T p.Arg102Trp p.Arg102Trp 1 602885 -598 5' 73.6002 9.73316 0.978306 11.465 73.6002 9.73316 0.978306 11.465 0 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs202101950 yes no Frequency 1 C 0.000000 0 0.000260 0.000000 0.000000 0.000407 0.000000 0.000000 0.000413 0.000533 0.000490 0.000533 68 0 0 4 0 0 48 13 3 261930 22670 33846 9832 18522 30242 116324 24376 6118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 0 0 4 0 0 48 13 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4400 12969 3 0 3 0.000349977 0 0.000231267 0.000349977 0 0.000231267 23 COSM6230053 Large intestine 0.000896 2231 transition C T C>T 1.000 0.770 R Arg CGG 0.207 W Trp TGG 1.000 102 11 8 Zebrafish -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 271.19 36.80 Tolerated 0.09 3.I good 3.807E-1 0.3082 255 PASS . . . . . . . . . . . . MLNR:uc010tgj.2:exon1:c.C304T:p.R102W MLNR:NM_001507:exon1:c.C304T:p.R102W . . 0.4318182 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.892 . @ . . . . . 1 0.963 . . 176.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R102W|MLNR|mRNA|CODING|NM_001507|NM_001507.ex.1) . 0.0002 0.0003 . 0.0002 0.0003 . 0.3335 0.220 0.333 c . . . . . 2.375e-04 . . . 0 0.0003 0 0 0 0.0006 0 0 0 0.0002 0 0 0.0002 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.726 . . exonic exonic exonic . . 0.271 @ . . . 0.34 0.37 182 ENSG00000102539 MLNR MLNR . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.379 . . . . D 0.932 0.391 . . 37 . 0.791 . . 0.677 . . . 0.663 0.247 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.769 . . 0 0 0 0 0 0 . 0.899 . . 0.736 . . . . . . 0 0.400 . . . . . 0.246 . 0.714 . HET 0.09 rs202101950 . . . . . . . . . . . . 7.137 0.0 . 4.XII II.23 . 0.170000 O43193 . . Name\x3dnsv832607 0.000231 . 0.341 . . II.23 0 0.0003 0 0.0004 0 0.0006 0.0004 0.0004 0 0 0.0002 0 0 0 0.0003 0.0003 0.0010 . . 0.340 . 0.151 0.151000 . . 0.170000 . . 1.0E-255 0.930 0.320 . 0.625 0.996 . 0.261 . 0.125 0.151 -0.123 0.0003 . . rs202101950 rs202101950 1 1538 10 1/0 0,232,255 +rs192170277 13 50020546 C T - SETDB2 20263 SET domain bifurcated 2 NM_031915.2 1 6220 2160 NP_114121.2 Q96T68 substitution intron GRCh37 50020546 50020546 Chr13(GRCh37):g.50020546C>T 1211 1211 NM_031915.2:c.-342+1553C>T p.? p.? 1 1 607865 1553 5' 94.6711 X.63 0.980587 1.75928 94.6711 X.63 0.980587 1.75928 0 rs192170277 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.002000 0.002900 0.001598 0.000534 0.001060 0.002033 0.000000 0.000089 0.002843 0.000671 0.002580 0.002843 261 8 26 17 0 2 189 7 12 163358 14986 24520 8362 11508 22410 66486 10434 4652 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 261 8 26 17 0 2 189 7 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.037 255 PASS 0.002 0.0009 0.0028 . . . 0.0008 0.0029 . 0.002 . . . . . . 0.4047619 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.2687 . . . . . . . . 9.372e-04 . . . 0 0.0008 0.0053 0 0 0.0024 0 0 0 0.0005 0.0069 0 0.0012 0.0010 0 0 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.35 0.25 182 . SETDB2 SETDB2 . . . . . . 148 0.00227776 64976 145 0.00241723 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192170277 . . . . . . . . . . . . . . . . . . . . 0 0.034 . . . . . . . 0.0005 0.0015 0.0010 0.0021 0 0.0007 0.0028 0.0025 8.925e-05 0.0006 0.0018 0.0024 0 0 0.0006 0.0029 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs192170277 rs192170277 1 1538 10 1/0 0,255,255 +rs773256911 13 50306827 A G - KPNA3 6396 Karyopherin alpha 3 (importin alpha 4) NM_002267.3 -1 4474 1566 NP_002258.2 O00505 substitution intron GRCh37 50306827 50306827 Chr13(GRCh37):g.50306827A>G 235-34 235-34 NM_002267.3:c.235-34T>C p.? p.? 5 4 601892 -34 3' 84.4022 6.87796 0.716684 4.99015 84.4022 6.87796 0.716684 5.09032 0 rs773256911 yes no Frequency 1 A 0.000000 0 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000187 0.000027 4 0 0 0 0 0 3 0 1 239718 15190 32464 9600 16836 28354 109706 22222 5346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 PASS 66 Exomes transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.7222222 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . INTRON(MODIFIER||||KPNA3|mRNA|CODING|NM_002267|) . . . . . . . 0.2418 . . . . . . . . 7.896e-06 . . . 0 1.113e-05 0 0 0 2.39e-05 0 0 0 9.491e-06 0 0 0 1.848e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000102753 KPNA3 KPNA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773256911 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1586n71 . . . . . . 0 1.669e-05 0 0 0 0 2.735e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199830506 13 52952690 C T - THSD1 17754 Thrombospondin, type I, domain containing 1 NM_018676.3 -1 3348 2559 NP_061146.1 Q9NS62 substitution missense exon GRCh37 52952690 52952690 Chr13(GRCh37):g.52952690C>T 1415 1415 NM_018676.3:c.1415G>A p.Ser472Asn p.Ser472Asn 5 616821 235 3' 93.9409 11.111 0.995424 11.0606 93.9409 11.111 0.995424 11.0606 0 rs199830506 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.005000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000000 0.000406 0.000000 0.000000 0.000000 0.000000 0.000406 7 0 0 0 7 0 0 0 0 246132 15296 33580 9846 17248 30778 111602 22298 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transition G A G>A 0.906 2.869 S Ser AGC 0.243 N Asn AAC 0.536 472 12 8 Tetraodon 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 220.50 0.00 Tolerated 0.41 II.88 good 6,00E-01 0.02371 255 PASS . 0.0014 . 0.01 . . 0.001 . 0.005 . . . . . . . 0.4074074 . . @ 66 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.150 . @ . . . . . 1 0.480 . . 162.0 . . . . . . . . . . -0.2713 -0.173 -0.271 c . . . . . 6.314e-05 . . . 0 5.517e-05 0 0.0009 0 0 0 0 0 3.77e-05 0 0.0005 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.207 . . exonic exonic exonic . . 0.719 0.0010 . . . 0.57 0.46 182 ENSG00000136114 THSD1 THSD1 . . . 1.000 0.436 . 5 7.69515e-05 64976 0 0 59986 Uncertain_significance . 0 . 0.426 . . . . T 0.286 0.011 . . 37 . 0.247 . . 0.223 . . . 0.326 0.371 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.217 . . 0.218 . . . . . . 0 0.177 . . . . . 0.410 . 0.243 . HET 0.25 rs199830506 . . . . . . . 0.0013736263736263737 0.0 0.0 0.005244755244755245 0.0 10.0215 . . 6.VI V.21 . 0.260000 . . . . . . 0.519 . . V.21 0 2.844e-05 0 0 0.0004 0 0 0 0 . . . . . . . . . . 0.310 . 1.566 1.566000 . . 0.260000 . . 1.0E-255 1.000 0.715 . 0.345 0.936 . 0.485 . 0.441 1.566 0.871 0.01 . . rs199830506 rs199830506 1 1538 10 1/0 0,235,255 +rs775151037 13 60548575 T C - DIAPH3 15480 Diaphanous-related formin 3 NM_001042517.1 -1 4802 3582 NP_001035982.1 Q9NSV4 substitution missense exon GRCh37 60548575 60548575 Chr13(GRCh37):g.60548575T>C 1561 1561 NM_001042517.1:c.1561A>G p.Thr521Ala p.Thr521Ala 15 614567 16 3' 86.2709 9.44792 0.963548 6.34292 86.2709 9.44792 0.966776 6.55316 0.00111671 rs775151037 yes no Frequency 1 T 0.000000 0 0.000058 0.000000 0.000466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000466 16 0 16 0 0 0 0 0 0 275018 23930 34358 10124 18790 30760 125610 25016 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 16 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.047 -0.440 T Thr ACC 0.361 A Ala GCC 0.403 521 12 3 Opossum 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.7 III.47 good 4.431E-1 0.2598 255 PASS . . . . . . . . . . . . . . . . 0.75 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.172 . @ . . . . . 1 0.157 . . 32.0 . . . . . . . . . . -0.4355 -0.396 -0.435 c . . . . . 3.996e-05 . . . 0 5.602e-05 0.0004 0 0 0 0 0 0 4.767e-05 0.0005 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.809 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000139734 DIAPH3 DIAPH3 . . . 0.990 0.320 . . . . . . . Uncertain_significance . 0 . 0.283 . . . . D 0.553 0.034 . . 37 . 0.739 . . 0.653 . . . 0.685 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.612 . . 0 0 0 0 0 0 . 0.520 . . 0.496 . . . . . . 0 0.240 . . . . . 0.106 . 0.026 . HOM 0.03 rs775151037 . . . . . . . . . . . . IV.93 . . 6.III -2.22 . 0.310000 . . . Name\x3dnsv900237 . . 0.299 . . . 0 6.143e-05 0.0004 0 0 0 0 0 0 0 3.244e-05 0.0012 0 0 0 0 0 . . 0.413 . -0.325 -0.325000 . . 0.310000 . . 1.0E-255 1.000 0.715 . 0.574 0.997 . 0.372 . 0.211 -0.325 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs41287036 13 77575072 C T - CLN5 2076 Ceroid-lipofuscinosis, neuronal 5 NM_006493.2 1 2800 1224 NP_006484.1 substitution missense exon GRCh37 77575072 77575072 Chr13(GRCh37):g.77575072C>T 1192 1192 NM_006493.2:c.1192C>T p.Pro398Ser p.Pro398Ser 4 608102 480 3' 86.8047 8.59701 0.715323 7.53747 86.8047 8.59701 0.715323 7.53747 0 rs41287036 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000097 0.000174 0.000000 0.000000 0.000000 0.000000 0.000180 0.000000 0.000000 0.000180 26 4 0 0 0 0 22 0 0 267926 22942 33736 9922 18576 29442 122212 24792 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 4 0 0 0 0 22 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7939 4182 12121 1 0 1 0.000125945 0 8.24946e-05 0.000125945 0 8.24946e-05 26 RCV000116753.2|RCV000319549.1 germline|germline|germline clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|VUS 1|1 not provided|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive transition C T C>T 1.000 5.774 P Pro CCT 0.283 S Ser TCT 0.185 398 12 11 Zebrafish -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 208.63 19.42 Deleterious 0 III.89 good 2.399E-1 0.002908 255 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000102805:ENST00000377453:exon4:c.C1192T:p.P398S CLN5:uc001vkc.3:exon4:c.C1192T:p.P398S CLN5:NM_006493:exon4:c.C1192T:p.P398S . . 0.4318182 . . germline 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.850 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Uncertain//\@significance other|Uncertain_significance RCV000116753.2|RCV000319549.1 . MedGen|MedGen CN221809|CN239251 1 0.969 . . 44.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.8424 0.808 0.842 c . . . . . 7.242e-05 . . . 0 8.361e-05 0 0 0 0.0002 0 0 0 4.941e-05 0 0 0 9.662e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.914 . . exonic exonic exonic . . 0.868 0.0002 . . . 0.36 0.34 182 ENSG00000102805 CLN5 CLN5 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.793 0.114 . . 37 . 0.952 . . 0.951 . . . 0.681 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.915 . . 0 0 0 0 1 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.962 . 0.896 . HET 0 rs41287036 . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000116753.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000116753.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000116753.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . 19.7422 0.0 . V.65 V.65 . 0.010000 O75503 . . . 0.000082 . 0.862 . . V.65 7.038e-05 8.863e-05 0 0 0 0 0.0002 0 0 0.0003 0.0002 0 0 0 0 0.0001 0 . . 0.924 . 2.666 2.666000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.423 0.924 . 0.817 . 0.362 2.666 0.824 0.0001 rs41287036 rs41287036 rs41287036 rs41287036 1 1538 10 1/0 0,255,255 +rs145663548 13 78192153 A G - SCEL 10573 Sciellin NM_144777.2 1 3226 2067 NP_659001.2 O95171 substitution missense exon GRCh37 78192153 78192153 Chr13(GRCh37):g.78192153A>G 1586 1586 NM_144777.2:c.1586A>G p.Asn529Ser p.Asn529Ser 27 604112 15 3' 85.0064 9.33329 0.134108 3.87935 85.0064 9.33329 0.179839 4.08307 0.113667 rs145663548 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004383 0.001166 0.002501 0.001480 0.000053 0.003282 0.006268 0.006206 0.004655 0.006268 1213 28 86 15 1 101 792 160 30 276744 24006 34386 10138 18860 30776 126352 25782 6444 0.000058 0.000000 0.000000 0.000000 0.000000 0.000065 0.000095 0.000078 0.000000 8 0 0 0 0 1 6 1 0 1197 28 86 15 1 99 780 158 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4400 12965 35 6 41 0.00406977 0.00136178 0.00315239 0.00406977 0.00136178 0.00315239 116 transition A G A>G 0.142 0.205 N Asn AAT 0.464 S Ser AGT 0.149 529 12 7 Dog 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.64 3.VII good 6.838E-1 0.4822 255 PASS . 0.0018 0.0028 . 0.004 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.5505618 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.144 . @ . . . . . 1 0.208 . . 89.0 . . . 0.0014 0.0032 0.0041 0.0014 0.0032 0.0041 . -0.4963 -0.536 -0.496 c . . . . . 4.530e-03 . . . 0.0009 0.0036 0.0010 0 0.0061 0.0052 0.0070 0.0035 0.0009 0.0043 0.0009 0 0.0065 0.0062 0.0043 0.0035 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.222 0.0014 . . . 0.25 0.27 182 ENSG00000136155 SCEL SCEL . . . 0.934 0.271 . 251 0.00386296 64976 244 0.00406762 59986 Likely_benign . 0 . 0.140 . . . . T 0.105 0.004 . . 37 . 0.234 . . 0.163 . . . 0.691 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.342 . . 0 0 0 0 0 0 . 0.367 . . 0.332 . . . . . . 0 0.574 . . . . . 0.263 . 0.013 . HET 0.05 rs145663548 . . . . . . . 0.0018315018315018315 0.0 0.0027624309392265192 0.0 0.00395778364116095 VII.31 0.001338 . V.35 I.54 . 0.630000 . . . . 0.003152 . 0.096 . . . 0.0010 0.0044 0.0025 0.0015 5.798e-05 0.0061 0.0063 0.0037 0.0033 0.0015 0.0045 0.0012 0 0 0.0072 0.0060 0.0102 . . 0.133 . 0.424 0.424000 . . 0.630000 . . 1.0E-255 0.037 0.206 . 0.625 0.876 . 0.308 . 0.960 0.424 0.126 0.0041 . . rs145663548 rs145663548 1 1538 10 1/0 0,255,255 +rs143392665 13 113516788 G A - ATP11A 13552 ATPase, class VI, type 11A NM_032189.3 1 8768 3576 NP_115565.3 substitution missense exon GRCh37 113516788 113516788 Chr13(GRCh37):g.113516788G>A 2890 2890 NM_032189.3:c.2890G>A p.Val964Met p.Val964Met 25 605868 35 3' 90.6792 9.28031 0.949841 13.2129 90.6792 9.28031 0.949841 13.0757 0 ATPase, P-type, phospholipid-translocating, flippase rs143392665 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.003800 0.001000 0.000000 0.000000 0.000000 0.000838 0.006081 0.000087 0.000000 0.000000 0.002470 0.000047 0.000000 0.000155 0.006081 232 146 3 0 0 76 6 0 1 276958 24008 34396 10142 18870 30764 126532 25782 6464 0.000014 0.000083 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 228 144 3 0 0 74 6 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4375 12974 1 31 32 0.000116279 0.00703586 0.0024604 0.000116279 0.00703586 0.0024604 138 transition G A G>A 0.386 0.851 V Val GTG 0.468 M Met ATG 1.000 964 14 8 Tetraodon 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 119.12 0.00 Tolerated 0.1 III.58 good 1.675E-1 0.2959 255 PASS 0.002 0.0005 . . . 0.0038 0.0012 . . . 0.001 . . . . . 0.6282051 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.246 . @ . . . . . 1 0.353 . . 78.0 . . . 0.007 0.0025 0.0001 0.007 0.0025 0.0001 . -0.2389 -0.207 -0.239 c . . . . . 8.445e-04 . . . 0.0061 0.0012 0 0 0 4.777e-05 0 0.0025 0.0059 0.0009 0 0 0 5.544e-05 0 0.0025 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.705 . . exonic exonic exonic . . 0.372 0.0012 . . . 0.4 0.14 182 ENSG00000068650 ATP11A ATP11A . . . 0.904 0.261 . 8 0.000123122 64976 2 3.33411e-05 59986 Uncertain_significance . 0 . 0.112 . . . . D 0.630 0.047 . . 37 . 0.487 . . 0.485 . . . 0.392 0.207 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.065 . . 0 0 0 0 0 0 . 0.354 . . 0.288 . . . . . . 0 0.306 . . . . . 0.134 . 0.341 . HET 0.09 rs143392665 0.011 0.007 . . . . . 4.578754578754579E-4 0.0020325203252032522 0.0 0.0 0.0 IV.67 0.006688 . V.21 III.34 . 0.100000 . . . . 0.002460 . 0.337 . . III.34 0.0067 0.0008 8.94e-05 0 0 0 4.483e-05 0.0002 0.0025 0.0050 0.0015 0 0 0 0 6.67e-05 0 . . 0.730 . 1.156 1.156000 . . 0.100000 . . 1.0E-255 0.978 0.348 . 0.213 0.932 . 0.395 . 0.713 1.156 -0.020 0.011 . . rs143392665 rs143392665 1 1538 10 1/0 0,255,255 +rs527880901 13 113748666 G A - MCF2L 14576 MCF.2 cell line derived transforming sequence like NM_001320815.1 1 6524 3447 NP_001307744.1 substitution intron GRCh37 113748666 113748666 Chr13(GRCh37):g.113748666G>A 3023-162 3023-162 NM_001320815.1:c.3023-162G>A p.? p.? 28 27 609499 -162 3' 84.0798 X.08 0.983751 6.87386 84.0798 X.08 0.983751 6.87386 0 rs527880901 yes no Frequency/1000G 2 G 0.000000 0 0.005192 0.000000 0.023500 0.000000 0.002000 0.001400 0.003714 0.001603 0.001193 0.026490 0.000000 0.000000 0.005268 0.002290 0.005092 0.026490 115 14 1 8 0 0 79 8 5 30966 8732 838 302 1622 0 14996 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 14 1 8 0 0 79 8 5 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.000 0.286 255 PASS . . . . . . 0.0052 0.0014 . 0.002 0.024 . . . . . 0.42857143 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . 0.3639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0052 . . . . . . ENSG00000126217 MCF2L MCF2L . . . . . . 315 0.00484794 64976 289 0.00481779 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs527880901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0037 0.0012 0.0265 0 0.0023 0.0053 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 13 114453604 C T - LINC00552 43692 Long intergenic non-protein coding RNA 552 NR_028064.1 -1 2579 0 substitution exon GRCh37 114453604 114453604 Chr13(GRCh37):g.114453604C>T 459 459 NR_028064.1:n.459G>A 1 rs899837305 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 90810 3172 17578 6370 5948 17486 32986 4662 2608 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 179 Exomes transition G A G>A 0.071 0.125 252 PASS . . . . . . . . . . . . LINC00552:uc010tkg.1:exon1:c.G416A:p.G139D . . . 0.2037037 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R153|LINC00552|Non-coding_transcript|NON_CODING|NR_028064|NR_028064.ex.1) . . . . . . . -0.3482 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_splicing exonic ncRNA_exonic . . . @ . . . . . . ENSG00000227208 LINC00552 LINC00552 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs60844968 13 114507742 G C - TMEM255B 28297 Transmembrane protein 255B NM_182614.3 1 1348 981 NP_872420.1 Q8WV15 substitution intron GRCh37 114507742 114507742 Chr13(GRCh37):g.114507742G>C 670-116 670-116 NM_182614.3:c.670-116G>C p.? p.? 8 7 -116 3' 84.1763 10.459 0.950016 8.70964 84.1763 10.459 0.950016 8.70964 0 rs60844968 yes no Frequency/1000G 2 G 0.000000 0 0.076078 0.087000 0.030700 0.001000 0.163000 0.102300 0.000283 0.000613 0.000000 0.000000 0.000000 0.000000 0.000151 0.000000 0.001111 0.000613 8 5 0 0 0 0 2 0 1 28288 8158 788 248 1620 0 13268 3306 900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 5 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 46 Genomes transversion G C G>C 0.063 1.416 255 PASS 0.09 0.09 0.1 0.0017 0.15 0.087 0.076 0.1 0.001 0.16 0.031 . . . . . 0.4827586 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||TMEM255B|mRNA|CODING|NM_182614|) . . . . . . . 0.2741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0761 . . . 0.08 0.19 182 ENSG00000184497 TMEM255B TMEM255B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs60844968 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0003 0 0 0 0 0.0002 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 . rs60844968 rs60844968 rs60844968 1 1538 10 1/0 0,255,255 +rs12856045 13 114507748 T C - TMEM255B 28297 Transmembrane protein 255B NM_182614.3 1 1348 981 NP_872420.1 Q8WV15 substitution intron GRCh37 114507748 114507748 Chr13(GRCh37):g.114507748T>C 670-110 670-110 NM_182614.3:c.670-110T>C p.? p.? 8 7 -110 3' 84.1763 10.459 0.950016 8.70964 84.1763 10.459 0.950016 8.70964 0 rs12856045 yes no Frequency/1000G 2 T 0.000000 0 0.079473 0.087000 0.040900 0.001000 0.168000 0.105200 0.000693 0.001004 0.000000 0.000000 0.000000 0.000000 0.000699 0.000633 0.000000 0.001004 19 8 0 0 0 0 9 2 0 27418 7972 766 246 1540 0 12878 3160 856 0.052632 0.000000 0.000000 0.000000 0.000000 0.000000 0.111111 0.000000 0.000000 1 0 0 0 0 0 1 0 0 17 8 0 0 0 0 7 2 0 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition T C T>C 0.008 -2.539 255 PASS 0.09 0.09 0.1 0.0017 0.16 0.087 0.08 0.11 0.001 0.17 0.041 . . . . . 0.5483871 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||TMEM255B|mRNA|CODING|NM_182614|) . . . . . . . -0.4034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0795 . . . 0.07 0.12 182 ENSG00000184497 TMEM255B TMEM255B . . . . . . 9303 0.143176 64976 8905 0.148451 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12856045 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0007 0 0 0 0.0006 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . rs12856045 rs12856045 rs12856045 1 1538 10 1/0 0,255,255 +rs141152619 14 19377795 T C - OR11H12 30738 Olfactory receptor, family 11, subfamily H, member 12 NM_001013354.1 1 981 981 NP_001013372.1 B2RN74 substitution missense exon GRCh37 19377795 19377795 Chr14(GRCh37):g.19377795T>C 202 202 NM_001013354.1:c.202T>C p.Trp68Arg p.Trp68Arg 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs141152619 yes no Frequency/1000G 2 C 0.000000 0 0.010383 0.019700 0.004100 0.007900 0.012900 0.001400 0.001200 0.003638 0.001154 0.000336 0.002122 0.000142 0.000755 0.002428 0.001435 0.003638 291 65 34 3 35 4 85 57 8 242506 17868 29454 8930 16492 28144 112570 23474 5574 0.000297 0.001231 0.000340 0.000000 0.001091 0.000071 0.000107 0.000170 0.000718 36 11 5 0 9 1 6 2 2 190 42 10 2 15 1 63 53 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.117 W Trp TGG 1.000 R Arg CGG 0.207 68 10 2 Orangutan -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 195.36 0.00 Tolerated 0.87 IV.32 good 6.29E-1 0.2676 211 PASS . . . . . 0.02 0.01 0.0014 0.0079 0.013 0.0041 ENSG00000257115:ENST00000550708:exon1:c.T202C:p.W68R OR11H12:uc010tkp.2:exon1:c.T202C:p.W68R OR11H12:NM_001013354:exon1:c.T202C:p.W68R . . 0.18987341 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.011 . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W68R|OR11H12|mRNA|CODING|NM_001013354|NM_001013354.ex.1) . . . . . . . -1.6833 -1.718 -1.683 c . . . . . 7.401e-05 . . . 0 1.227e-05 0 0 0 2.622e-05 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.091 0.0240 . . . 0.37 0.29 182 ENSG00000257115 OR11H12 OR11H12 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.031 . . . . . . . . . 37 . 0.005 . . 0.448 . . . 0.001 . . . . . 1 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.083 . . . . . 0.090 . 0.199 . HET 0.49 rs141152619 . . . . . . . . . . . . 4.0057 . ENST00000550708 0.585 -1.17 . 0.610000 B2RN74 . . . . . 0.004 . . . 0.0020 0.0005 0.0007 0.0002 0.0014 0.0002 0.0003 0.0010 0.0001 0.0075 0.0081 0.0211 0.0040 0.0114 0.0203 0.0048 0.0040 . . 0.133 . -0.321 -0.321000 . . 0.610000 . . 1.0E-211 0.000 0.063 . 0.137 0.022 . 0.011 . 0.005 -0.321 -1.861 . rs10222214 rs10222214 rs10222214 rs10222214 1 1538 10 1/0 0,244,255 +rs202226673 14 19378135 T A - OR11H12 30738 Olfactory receptor, family 11, subfamily H, member 12 NM_001013354.1 1 981 981 NP_001013372.1 B2RN74 substitution missense exon GRCh37 19378135 19378135 Chr14(GRCh37):g.19378135T>A 542 542 NM_001013354.1:c.542T>A p.Met181Lys p.Met181Lys 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs202226673 yes no Frequency 1 T 0.000000 0 0.001380 0.001222 0.000413 0.000000 0.000624 0.000000 0.000224 0.006844 0.005166 0.006844 146 18 5 0 6 0 10 93 14 105798 14726 12110 1938 9608 6560 44558 13588 2710 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146 18 5 0 6 0 10 93 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6019292 Skin 0.000812 1232 transversion T A T>A 0.142 1.013 M Met ATG 1.000 K Lys AAG 0.575 181 10 8 Cape rock hyrax -1 -1 -3 0 0.33 5.VII 11.III 105 119 95 C55 14.30 93.77 Deleterious 0 IV.32 bad 1.154E-5 0.0001649 174 PASS . . . . . . . . . . . ENSG00000257115:ENST00000550708:exon1:c.T542A:p.M181K OR11H12:uc010tkp.2:exon1:c.T542A:p.M181K OR11H12:NM_001013354:exon1:c.T542A:p.M181K . . 0.10144927 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.463 . @ . . . . . 1 0.153 . . 414.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aAg|M181K|OR11H12|mRNA|CODING|NM_001013354|NM_001013354.ex.1) . . . . . . . -0.4253 -0.589 -0.425 c . . . . . 1.104e-04 . . . 0 0.0008 0 0.0063 0 0.0005 0 0 0 0.0024 0 0.0153 0 0.0023 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.001 . . exonic exonic exonic . . 0.165 @ . . . 0.34 0.28 182 ENSG00000257115 OR11H12 OR11H12 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.244 . . . . T 0.079 0.003 . . 37 . 0.002 . . 0.362 . . . 0.346 . . . . . 1 0 0 0 0 0 0 0 0 0 0 0.761 . . 0 0 0 0 0 0 . 0.401 . . 0.415 . . . . . . 0 0.614 . . . . . 0.162 . 0.470 . LowAF 0.01 rs202226673 . . . . . . . . . . . . V.03 . ENST00000550708 0.585 0.585 . 0.010000 B2RN74 . . . . . 0.166 . . . 0 0.0001 0 0 0.0007 0 6.44e-05 0 0 0.0021 0.0049 0.0066 0 0 0.0343 0.0006 0.0168 . . 0.133 . 0.518 0.518000 . . 0.010000 . . 1.0E-174 0.015 0.189 . 0.311 0.920 . 0.410 . 0.255 0.518 0.615 . rs3000029 rs3000029 rs3000029 rs202226673 1 1538 10 1/0 0,165,255 +. (chr14:19412842 T/A) 14 19412842 T A Not on a known gene +. (chr14:19485946 C/G) 14 19485946 C G No Alamut gene - other known genes: NF1P4 NF1P4 +rs200084495 14 19553612 C T - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution missense exon GRCh37 19553612 19553612 Chr14(GRCh37):g.19553612C>T 196 196 NM_001005356.2:c.196C>T p.Arg66Cys p.Arg66Cys 1 608916 -326 5' 78.4708 8.54931 0.957079 8.73066 78.4708 8.54931 0.957079 8.73066 0 rs200084495 no no 0 C 0.000000 0 0.000055 0.000273 0.000029 0.000000 0.000054 0.000000 0.000024 0.000118 0.000159 0.000273 15 6 1 0 1 0 3 3 1 270780 21964 34144 10046 18624 30694 123670 25358 6280 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 6 1 0 1 0 3 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM2027900 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.024 -1.247 R Arg CGC 0.190 C Cys TGC 0.552 66 12 2 Orangutan -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 214 PASS . . . . . . . . . . . . POTEG:uc001vuz.1:exon1:c.C196T:p.R66C POTEG:NM_001005356:exon1:c.C196T:p.R66C . . 0.19642857 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.193 . @ . . . . . 1 0.028 . . 168.0 . . . . . . . . . . -1.7995 -1.859 -1.800 c . . . . . . . . . 0 2.281e-05 0 0 0.0003 2.479e-05 0 0 0 1.938e-05 0 0 0.0002 1.9e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.273 . . exonic exonic exonic . . . @ . . . 0.39 0.27 182 ENSG00000222036 POTEG POTEG . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.090 . . 0.202 . . . 0.112 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.234 . . . . . . . 0.236 . HET 0.1 rs200084495 . . . . . . . . . . . . . . ENST00000409832 . . . 0.070000 Q6S5H5 . . . . . 0.003 . . . 0 1.642e-05 0 0 0 0.0001 9.071e-06 0 0 0.0008 0.0004 0.0013 0 0.0007 0 0.0001 0.0012 . . 0.246 . -1.281 -1.281000 . . 0.070000 . . 1.0E-214 0.000 0.063 . 0.016 0.029 . 0.002 . 0.000 -1.281 -1.380 . rs28431315 rs28431315 rs28431315 rs200084495 1 1538 10 1/0 0,213,255 +rs201360940 14 19553653 C T - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution synonymous exon GRCh37 19553653 19553653 Chr14(GRCh37):g.19553653C>T 237 237 NM_001005356.2:c.237C>T p.Asn79= p.Asn79Asn 1 608916 -285 5' 78.4708 8.54931 0.957079 8.73066 78.4708 8.54931 0.957079 8.73066 0 rs201360940 yes no Frequency 1 C 0.000000 0 0.000253 0.000529 0.000097 0.000351 0.000058 0.000295 0.000223 0.000515 0.000000 0.000529 59 10 3 3 1 7 24 11 0 233656 18920 30774 8552 17362 23718 107426 21342 5562 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000074 0.000000 0.000000 4 0 0 0 0 0 4 0 0 51 10 3 3 1 7 16 11 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.682 N Asn AAC 0.536 N Asn AAT 0.464 79 194 PASS . . . . . . . . . . . . POTEG:uc001vuz.1:exon1:c.C237T:p.N79N POTEG:NM_001005356:exon1:c.C237T:p.N79N . . 0.14393939 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 132.0 . . . . . . . . . . -0.5590 . . . . . . . . 1.197e-04 . . . 0 0.0002 0.0001 0.0004 0.0003 0.0002 0 8.306e-05 0 0.0001 0.0001 0.0003 0.0002 0.0001 0 8.356e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.29 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201360940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 9.982e-05 0.0004 6.257e-05 0.0005 0.0002 0 0.0003 0.0015 0.0008 0 0 0 0.0007 0.0006 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs201360940 rs201360940 1 1538 10 1/0 0,218,255 +rs760320985 14 19558709 C T - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558709 19558709 Chr14(GRCh37):g.19558709C>T 522-8 522-8 NM_001005356.2:c.522-8C>T p.? p.? 2 1 608916 -8 3' 78.903 7.63058 0.895947 6.63934 80.7129 7.94346 0.883919 7.05348 0.0168387 rs760320985 yes no Frequency 1 C 0.000000 0 0.000065 0.000000 0.000161 0.000000 0.000124 0.000078 0.000064 0.000000 0.000000 0.000161 10 0 3 0 1 1 5 0 0 154780 9812 18642 6036 8080 12790 77702 18140 3578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 3 0 1 1 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.125 205 PASS . . . . . . . . . . . . . . . . 0.175 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.4070 . . . . . . . . 3.543e-05 . . . 0 6.203e-05 0.0003 0 0 0 0 0.0001 0 6.821e-05 0.0003 0 0 3.043e-05 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.12 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs760320985 . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . 0 6.207e-05 0.0002 0 0.0001 0 5.484e-05 0 7.819e-05 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . rs4440050 rs4440050 rs4440050 rs4440050 1 1538 10 1/0 0,255,255 +. 14 19558796 A G - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution missense exon GRCh37 19558796 19558796 Chr14(GRCh37):g.19558796A>G 601 601 NM_001005356.2:c.601A>G p.Ile201Val p.Ile201Val 2 608916 -36 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 3.04537 0 Ankyrin repeat Ankyrin repeat-containing domain 0.000555 0.001800 0.001453 0.000000 0.000480 0.002475 0.000071 0.000000 0.001222 0.002475 17 6 4 0 1 4 1 0 1 30618 3334 2752 1012 2082 1616 14116 4888 818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 6 4 0 1 4 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427818 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.016 -0.037 I Ile ATC 0.481 V Val GTC 0.240 201 12 1 3 3 4 0 0 5.II 5.IX 111 84 29 C0 258.55 0.00 Tolerated 1 II.96 good 8.733E-1 0.455 255 PASS . . . . . . . . . . . . POTEG:uc001vuz.1:exon2:c.A601G:p.I201V POTEG:NM_001005356:exon2:c.A601G:p.I201V . . 0.3846154 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.030 . . 91.0 . . . . . . . . . . -1.8437 -1.898 -1.844 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.639 . . exonic exonic exonic . . 0.041 @ . . . 0.2 0.31 182 ENSG00000222036 POTEG POTEG . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.008 . . . . T 0.091 0.004 . . 37 . 0.340 . . 0.419 . . . 0.039 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.048 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 2 0.010 . . . . . 0.152 . 0.052 . HET 1 . . . . . . . . . . . . . V.57 . ENST00000409832 I.87 -3.73 . 1.000000 Q6S5H5 . . . . . 0.018 . . . 0.0037 0.0007 0.0016 0 0.0006 0 0 0.0019 0.0025 0.0005 0.0002 0 0 0 0 0.0002 0 . . 0.133 . -0.754 -0.754000 . . 1.000000 . . 1.0E-255 0.236 0.245 . 0.043 0.001 . 0.105 . 0.003 -0.754 -1.589 . rs4525782 rs4525782 rs4525782 rs4525782 1 1538 10 1/0 0,254,255 +. 14 19558846 A C - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558846 19558846 Chr14(GRCh37):g.19558846A>C 636+15 636+15 NM_001005356.2:c.636+15A>C p.? p.? 2 2 608916 15 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.77652 0 0.000256 0.000514 0.000000 0.000000 0.000000 0.000000 0.000241 0.000000 0.000000 0.000514 2 1 0 0 0 0 1 0 0 7826 1946 210 96 388 0 4146 790 250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion A C A>C 0.000 0.205 195 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 102.0 . . . . . . . . . . -0.2136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +. 14 19558852 T A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558852 19558852 Chr14(GRCh37):g.19558852T>A 636+21 636+21 NM_001005356.2:c.636+21T>A p.? p.? 2 2 608916 21 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.58525 0 0.000264 0.000543 0.000000 0.000000 0.000000 0.000000 0.000248 0.000000 0.000000 0.000543 2 1 0 0 0 0 1 0 0 7562 1840 204 98 390 0 4036 752 242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 34 Genomes transversion T A T>A 0.000 0.448 197 PASS . . . . . . . . . . . . . . . . 0.1509434 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.0702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +rs748656804 14 19558861 A G - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558861 19558861 Chr14(GRCh37):g.19558861A>G 636+30 636+30 NM_001005356.2:c.636+30A>G p.? p.? 2 2 608916 30 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 3.08691 0 Cryptic Donor Strongly Activated 19558861 2.84724 0.027996 70.3663 7.07454 0.301322 82.5023 rs748656804 no no 0 A 0.000000 0 0.000295 0.000959 0.000328 0.000000 0.000000 0.000662 0.000097 0.000000 0.001355 0.000959 7 3 1 0 0 1 1 0 1 23754 3128 3046 628 2196 1510 10332 2176 738 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 1 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.4021739 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . . . . . . . -0.3790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.09 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs748656804 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0003 0.0004 0 0 0 0.0002 0 0.0007 0.0010 0.0004 0 0 0 0 0 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4508698 rs4508698 rs4508698 rs4508698 1 1538 10 1/0 0,255,255 +rs374721827 14 19558962 G A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558962 19558962 Chr14(GRCh37):g.19558962G>A 637-29 637-29 NM_001005356.2:c.637-29G>A p.? p.? 3 2 608916 -29 3' 78.709 4.30101 0.029015 1.14835 78.709 4.30101 0.029015 1.29043 0 rs374721827 yes no Frequency 1 G 0.000000 0 0.000122 0.000938 0.000081 0.000000 0.000208 0.000045 0.000076 0.000000 0.000000 0.000938 24 11 2 0 3 1 7 0 0 196152 11726 24628 8254 14444 22404 92484 17732 4480 0.083333 0.181818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 20 7 2 0 3 1 7 0 0 0 0 0 0 0 0 0 0 0 RF 71 Exomes 7526 3609 11135 0 7 7 0 0.00193584 0.000628253 0 0.00193584 0.000628253 58 transition G A G>A 0.008 0.448 241 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . 0.0019 0.0006 . 0.0019 0.0006 . . -0.1810 . . . . . . . . 2.780e-04 . . . 0.0019 0.0003 0 0.0007 0 0.0001 0 8.649e-05 0.0019 0.0002 0 0.0003 0 6.952e-05 0 8.697e-05 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs374721827 . . . . . . . . . . . . . . . . . . . . . . . 0.000628 . . . . . 0.0009 0.0001 8.121e-05 0 0.0002 0 7.569e-05 0 4.463e-05 . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . 0.0019 rs2040155 rs2040155 rs2040155 rs2040155 1 1538 10 1/0 0,255,255 +rs760841885 14 19559050 G A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution synonymous exon GRCh37 19559050 19559050 Chr14(GRCh37):g.19559050G>A 696 696 NM_001005356.2:c.696G>A p.Pro232= p.Pro232Pro 3 608916 60 3' 78.709 4.30101 0.029015 1.14835 78.709 4.30101 0.029015 0 0 Ankyrin repeat Ankyrin repeat-containing domain rs760841885 yes no Frequency 1 G 0.000000 0 0.000189 0.000478 0.000274 0.000000 0.000128 0.000527 0.000098 0.000000 0.000390 0.000527 41 8 7 0 2 12 10 0 2 216466 16728 25574 8434 15640 22770 102220 19974 5126 0.000046 0.000120 0.000078 0.000000 0.000000 0.000264 0.000000 0.000000 0.000000 5 1 1 0 0 3 0 0 0 31 6 5 0 2 6 10 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3980097|COSM3980097 Oesophagus|Haematopoietic and lymphoid tissue 0.000712|0.000283 1405|3530 transition G A G>A 0.465 -0.360 P Pro CCG 0.115 P Pro CCA 0.274 232 255 PASS . . . . . . . . . . . . POTEG:uc001vuz.1:exon3:c.G696A:p.P232P POTEG:NM_001005356:exon3:c.G696A:p.P232P . . 0.68421054 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 38.0 . . . . . . . . . . -0.1655 . . . . . . . . 5.755e-04 . . . 0.0008 0.0003 0.0001 0.0002 0 0.0001 0 0.0006 0.0006 0.0002 0.0001 0 0 6.791e-05 0 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.3 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs760841885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0.0002 0 6.89e-05 0 8.716e-05 0 0.0005 0.0004 0.0004 0.0018 0 0.0009 0 0.0002 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3931625 rs3931625 rs3931625 rs3931625 1 1538 10 1/0 0,255,255 +. 14 19578344 A C - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19578344 19578344 Chr14(GRCh37):g.19578344A>C 1409+3992 1409+3992 NM_001005356.2:c.1409+3992A>C p.? p.? 9 9 608916 3992 5' 100 X.83 0.999028 6.73022 100 X.83 0.999028 6.73022 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 12 0 0 0 0 24 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -0.037 231 PASS . . . . . . . . . . . ENSG00000222036:ENST00000547889:exon10:c.A1429C:p.N477H . . . . 0.24637681 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 69.0 . . . . . . . . . . -0.3111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 19578359 C T - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19578359 19578359 Chr14(GRCh37):g.19578359C>T 1409+4007 1409+4007 NM_001005356.2:c.1409+4007C>T p.? p.? 9 9 608916 4007 5' 100 X.83 0.999028 6.73022 100 X.83 0.999028 6.73022 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 18 2 0 0 0 40 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 847 Genomes transition C T C>T 0.000 -0.602 176 PASS . . . . . . . . . . . ENSG00000222036:ENST00000547889:exon10:c.C1444T:p.L482F . . . . 0.10526316 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 57.0 . . . . . . . . . . -0.4211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . 0 . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs879735083 14 19582995 G A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution synonymous exon GRCh37 19582995 19582995 Chr14(GRCh37):g.19582995G>A 1434 1434 NM_001005356.2:c.1434G>A p.Lys478= p.Lys478Lys 10 608916 25 3' 86.5899 5.40091 0.878524 4.17236 86.5899 5.40091 0.878524 4.32202 0 rs879735083 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 258 38 6 10 14 12 82 92 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 158 Exomes transition G A G>A 0.961 0.528 K Lys AAG 0.575 K Lys AAA 0.425 478 253 PASS . . . . . . . . . . . ENSG00000222036:ENST00000409832:exon10:c.G1434A:p.K478K POTEG:uc001vuz.1:exon10:c.G1434A:p.K478K POTEG:NM_001005356:exon10:c.G1434A:p.K478K . . 0.32258064 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 31.0 . . . . . . . . . . 0.4219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.69 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs2845178 rs2845178 rs2845178 rs2845178 1 1538 10 1/0 0,255,255 +rs201363560 14 19585414 G A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution downstream GRCh37 19585414 19585414 Chr14(GRCh37):g.19585414G>A *819 *819 NM_001005356.2:c.*819G>A p.? p.? 11 608916 818 3' 80.198 4.93135 0.960317 3.69646 80.198 4.93135 0.960317 3.69646 0 rs201363560 yes no Frequency 1 A 0.000000 0 0.005817 0.013635 0.001441 0.000000 0.009420 0.000000 0.002718 0.002675 0.001096 0.013635 166 103 1 0 13 0 39 9 1 28538 7554 694 286 1380 0 14348 3364 912 0.006024 0.000000 0.000000 0.000000 0.076923 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 164 103 1 0 11 0 39 9 1 0 0 0 0 0 0 0 0 0 RF 59 Genomes transition G A G>A 1.000 3.272 205 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 348.0 . . . . . . . . . . 0.1187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream downstream . . . @ . . . 0.54 0.7 182 ENSG00000222036 POTEG POTEG ENST00000409832:c.*819G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201363560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0136 0.0058 0.0014 0 0.0094 0.0027 0.0027 0.0011 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . rs2261632 rs2261632 rs2261632 rs201363560 1 1538 10 1/0 0,179,255 +. 14 19671576 C T - BMS1P17 49162 BMS1 pseudogene 17 NR_073460.1 -1 725 0 substitution intron GRCh37 19671576 19671576 Chr14(GRCh37):g.19671576C>T 412-471 412-471 NR_073460.1:n.412-471G>A p.? p.? 3 2 -471 3' 86.6928 10.1238 0.952536 3.79262 86.6928 10.1238 0.952536 3.79262 0 Cryptic Acceptor Weakly Activated 19671557 0.012982 70.8971 0.833783 0.013435 70.8971 0.001817 0.000473 0.000000 0.000000 0.000000 0.000000 0.002430 0.002553 0.002725 0.002553 38 2 0 0 0 0 27 7 2 20916 4230 682 224 1192 0 11112 2742 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 2 0 0 0 0 27 7 2 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition G A G>A 1.000 2.546 208 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0018 0 0 0 0.0026 0.0024 0.0027 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 19671576 C T - BMS1P18 19436 BMS1 pseudogene 18 NR_073459.1 -1 725 0 substitution intron GRCh37 19671576 19671576 Chr14(GRCh37):g.19671576C>T 412-471 412-471 NR_073459.1:n.412-471G>A p.? p.? 3 2 -471 3' 86.6928 10.1238 0.952536 3.79262 86.6928 10.1238 0.952536 3.79262 0 Cryptic Acceptor Weakly Activated 19671557 0.012982 70.8971 0.833783 0.013435 70.8971 0.001817 0.000473 0.000000 0.000000 0.000000 0.000000 0.002430 0.002553 0.002725 0.002553 38 2 0 0 0 0 27 7 2 20916 4230 682 224 1192 0 11112 2742 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 2 0 0 0 0 27 7 2 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition G A G>A 1.000 2.546 208 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0018 0 0 0 0.0026 0.0024 0.0027 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 19671576 C T - DUXAP10 32189 Double homeobox A pseudogene 10 NR_110526.1 1 2398 0 substitution intron GRCh37 19671576 19671576 Chr14(GRCh37):g.19671576C>T 741-9019 741-9019 NR_110526.1:n.741-9019C>T p.? p.? 7 6 -9019 3' 95.4391 9.54342 0.96426 6.22016 95.4391 9.54342 0.96426 6.22016 0 Cryptic Acceptor Strongly Activated 19671581 0.533887 0.002235 70.3219 1.53983 0.007596 73.8675 0.001817 0.000473 0.000000 0.000000 0.000000 0.000000 0.002430 0.002553 0.002725 0.002553 38 2 0 0 0 0 27 7 2 20916 4230 682 224 1192 0 11112 2742 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 2 0 0 0 0 27 7 2 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition C T C>T 1.000 2.546 208 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0018 0 0 0 0.0026 0.0024 0.0027 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr14:19742803 G/C) 14 19742803 G C Not on a known gene +rs878946107 (chr14:19807395 C/A) 14 19807395 C A Not on a known gene +rs879324480 (chr14:19903788 G/A) 14 19903788 G A Not on a known gene +. (chr14:19903867 C/T) 14 19903867 C T Not on a known gene +rs78285901 14 19988242 A C - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution 3'UTR GRCh37 19988242 19988242 Chr14(GRCh37):g.19988242A>C *799 *799 NM_001145442.1:c.*799T>G p.? p.? 11 798 3' 80.198 4.93135 0.960317 3.69646 80.198 4.93135 0.960317 3.69646 0 Cryptic Acceptor Strongly Activated 19988242 0.101375 1.17054 0.630839 rs78285901 yes no Frequency 1 0.000000 0 transversion T G T>G 1.000 0.205 182 PASS . . . . . . . . . . . . . . . . 0.11682243 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 428.0 . . UTR_3_PRIME(MODIFIER||||POTEM|mRNA|CODING|NM_001145442|NM_001145442.ex.11) . . . . . . . -0.4599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.58 0.75 182 ENSG00000187537 POTEM POTEM ENST00000551509:c.*799T>G uc001vwc.3:c.*799T>G NM_001145442:c.*799T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs2465690 rs2465690 rs2465690 rs2465690 1 1538 10 1/0 0,165,255 +. 14 19988666 G A - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution 3'UTR GRCh37 19988666 19988666 Chr14(GRCh37):g.19988666G>A *375 *375 NM_001145442.1:c.*375C>T p.? p.? 11 374 3' 80.198 4.93135 0.960317 3.69646 80.198 4.93135 0.960317 3.69646 0 transition C T C>T 1.000 3.111 179 PASS . . . . . . . . . . . . . . . . 0.110552765 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 199.0 . . UTR_3_PRIME(MODIFIER||||POTEM|mRNA|CODING|NM_001145442|NM_001145442.ex.11) . . . . . . . 0.2751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000187537 POTEM POTEM ENST00000551509:c.*375C>T uc001vwc.3:c.*375C>T NM_001145442:c.*375C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,255 +. 14 19995277 G A - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 19995277 19995277 Chr14(GRCh37):g.19995277G>A 1409+4008 1409+4008 NM_001145442.1:c.1409+4008C>T p.? p.? 9 9 4008 5' 100 X.83 0.999028 6.73022 100 X.83 0.999028 6.73022 0 transition C T C>T 0.000 -0.117 216 PASS . . . . . . . . . . . ENSG00000187537:ENST00000547848:exon10:c.C1444T:p.L482F . . . . 0.20833333 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . INTRON(MODIFIER||||POTEM|mRNA|CODING|NM_001145442|) . . . . . . . -0.8402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.13 . . . . . . . . . . . . . III.12 . ENST00000344684 0.761 -0.336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.127 -0.127000 . . . . . 1.0E-216 . . . . . . . . . -0.127 . . . . . . 1 1538 10 1/0 0,255,255 +rs201096243 14 19999393 G C - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution missense exon GRCh37 19999393 19999393 Chr14(GRCh37):g.19999393G>C 1301 1301 NM_001145442.1:c.1301C>G p.Pro434Arg p.Pro434Arg 9 59 3' 78.9179 6.67872 0.275223 IV.36 78.9179 6.67872 0.275223 V.12 0 rs201096243 yes no Frequency 1 G 0.000000 0 0.003763 0.001986 0.005435 0.000000 0.011634 0.004808 0.002035 0.000000 0.004854 0.011634 127 14 24 0 46 17 22 0 4 33752 7050 4416 702 3954 3536 10810 2460 824 0.000415 0.000000 0.000000 0.000000 0.002023 0.000566 0.000370 0.000000 0.000000 7 0 0 0 4 1 2 0 0 113 14 24 0 38 15 18 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.732 P Pro CCT 0.283 R Arg CGT 0.082 434 12 1 -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Tolerated 0.66 II.76 bad 1.784E-5 0.3341 188 PASS . . . . . . . . . . . . POTEM:uc001vwc.3:exon9:c.C1301G:p.P434R POTEM:NM_001145442:exon9:c.C1301G:p.P434R . . 0.13207547 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.093 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cGt|P434R|POTEM|mRNA|CODING|NM_001145442|NM_001145442.ex.9) . . . . . . . -1.4901 -1.616 -1.490 c . . . . . 4.623e-04 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.058 @ . . . 0.49 0.72 182 ENSG00000187537 POTEM POTEM . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.139 . . 0.243 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.501 . . . . . 0.082 . 0.144 . LowAF 0.03 rs201096243 . . . . . . . . . . . . III.18 . . I.29 -2.58 . . A6NI47 . . . . . 0.007 . . . 0.0014 0.0043 0.0057 0 0.0121 0 0.0018 0.0052 0.0048 0.0024 0.0025 0 0 0.0090 0 0.0023 0.0041 . . 0.133 . -1.781 -1.781000 . . . . . 1.0E-188 0.000 0.063 . 0.016 0.000 . 0.020 . 0.085 -1.781 -0.802 . . . rs201096243 rs201096243 1 1538 10 1/0 0,255,255 +. 14 20014802 T C - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20014802 20014802 Chr14(GRCh37):g.20014802T>C 636+30 636+30 NM_001145442.1:c.636+30A>G p.? p.? 2 2 30 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 3.08691 0 Cryptic Donor Strongly Activated 20014802 2.84724 0.027996 70.3663 7.07454 0.301322 82.5023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5860215 . . @ 109 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . -0.3995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.3 182 ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4508698 rs4508698 rs4508698 rs4508698 1 1538 10 1/0 0,240,251 +. 14 20014811 A T - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20014811 20014811 Chr14(GRCh37):g.20014811A>T 636+21 636+21 NM_001145442.1:c.636+21T>A p.? p.? 2 2 21 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.58525 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T A T>A 0.000 0.932 224 PASS . . . . . . . . . . . . . . . . 0.22564103 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 195.0 . . . . . . . . . . -0.1409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +. 14 20014817 T G - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20014817 20014817 Chr14(GRCh37):g.20014817T>G 636+15 636+15 NM_001145442.1:c.636+15A>C p.? p.? 2 2 15 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.77652 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A C A>C 0.000 -0.360 219 PASS . . . . . . . . . . . . . . . . 0.21105528 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 199.0 . . . . . . . . . . -0.3030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +. 14 20014867 T C - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution missense exon GRCh37 20014867 20014867 Chr14(GRCh37):g.20014867T>C 601 601 NM_001145442.1:c.601A>G p.Ile201Val p.Ile201Val 2 -36 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 3.04537 0 Ankyrin repeat Ankyrin repeat-containing domain transition A G A>G 0.992 0.448 I Ile ATC 0.481 V Val GTC 0.240 201 12 2 Orangutan 3 3 4 0 0 5.II 5.IX 111 84 29 C0 157.03 0.00 Tolerated 1 II.67 good 7.807E-1 0.508 255 PASS . . . . . . . . . . . . POTEM:uc001vwc.3:exon2:c.A601G:p.I201V POTEM:NM_001145442:exon2:c.A601G:p.I201V . . 0.5 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.008 . . 164.0 . . . . . . . . . . -1.4947 -1.512 -1.495 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.639 . . exonic exonic exonic . . 0.055 @ . . . 0.39 0.41 182 ENSG00000187537 POTEM POTEM . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.008 . . . . T 0.111 0.004 . . 37 . 0.326 . . 0.139 . . . 0.037 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.043 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 1 0.010 . . . . . 0.065 . 0.132 . HET 1 . . . . . . . . . . . . . III.48 . . 1.IV -2.79 . . A6NI47 . . . . . 0.169 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.298 -0.298000 . . . . . 1.0E-255 0.927 0.319 . 0.016 0.001 . 0.185 . 0.001 -0.298 -1.640 . rs4525782 rs4525782 rs4525782 rs4525782 1 1538 10 1/0 0,240,255 +. 14 20014954 G A - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20014954 20014954 Chr14(GRCh37):g.20014954G>A 522-8 522-8 NM_001145442.1:c.522-8C>T p.? p.? 2 1 -8 3' 78.903 7.63058 0.895947 5.96953 80.7129 7.94346 0.883919 6.38367 0.0168387 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.56969696 . . @ 94 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 165.0 . . . . . . . . . . -0.4188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.26 182 ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4440050 rs4440050 rs4440050 rs4440050 1 1538 10 1/0 0,245,255 +. 14 20015018 C T - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20015018 20015018 Chr14(GRCh37):g.20015018C>T 522-72 522-72 NM_001145442.1:c.522-72G>A p.? p.? 2 1 -72 3' 78.903 7.63058 0.895947 5.96953 78.903 7.63058 0.895947 6.11351 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 7399 Genomes transition G A G>A 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.54330707 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . -0.6043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.3 182 ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4561744 rs4561744 rs4561744 rs4561744 1 1538 10 1/0 0,255,255 +rs1590546 14 20181348 A G - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181348 20181348 Chr14(GRCh37):g.20181348A>G 728 728 NM_001197287.1:c.728T>C p.Met243Thr p.Met243Thr 2 754 3' 0 0 0 0 0 0 0 0 0 rs1590546 yes no Frequency 1 A 0.000000 0 0.001298 0.002851 0.002361 0.000000 0.000710 0.001753 0.000522 0.001778 0.003166 0.002851 238 49 52 0 10 36 41 35 15 183408 17186 22026 6666 14076 20538 78498 19680 4738 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000025 0.000000 0.000000 1 0 0 0 0 0 1 0 0 236 49 52 0 10 36 39 35 15 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.031 1.093 M Met ATG 1.000 T Thr ACG 0.116 243 10 8 Giant panda -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C35 20.52 69.84 Deleterious 0.02 IV.32 186 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.T728C:p.M243T OR11H2:NM_001197287:exon2:c.T728C:p.M243T . . 0.12698413 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.033 . . 63.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M243T|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . -0.0182 -0.165 -0.018 n . . . . . 9.258e-04 . . . 0.0033 0.0016 0.0104 0 0.0014 0.0006 0.0036 0.0011 0.0043 0.0016 0.0108 0 0.0015 0.0006 0.0045 0.0011 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.204 @ . . . 0.49 0.3 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.408 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.226 . 0.455 . LowAF 0 rs1590546 . . . . . . . . . . . . . . . . . . . . . . . . . 0.085 . . . 0.0029 0.0013 0.0024 0 0.0006 0.0021 0.0006 0.0039 0.0018 0.0028 0.0011 0.0013 0 0.0013 0 0.0004 0 . . 0.009 . . . . . . . . 1.0E-186 0.000 0.063 . 0.043 0.118 . 0.242 . 0.294 . 0.385 . rs1590546 rs1590546 rs1590546 rs1590546 1 1538 10 1/0 0,248,255 +rs11625510 14 20181373 G T - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181373 20181373 Chr14(GRCh37):g.20181373G>T 703 703 NM_001197287.1:c.703C>A p.Leu235Ile p.Leu235Ile 2 729 3' 0 0 0 0 0 0 0 0 0 rs11625510 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.003800 0.005100 0.000000 0.000000 0.001400 0.002142 0.009274 0.001066 0.000138 0.000267 0.003982 0.000626 0.003757 0.001214 0.009274 425 166 25 1 4 90 54 79 6 198392 17900 23454 7228 14978 22600 86260 21028 4944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 425 166 25 1 4 90 54 79 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.016 -0.037 L Leu CTT 0.129 I Ile ATT 0.356 235 10 9 Giant panda 2 2 2 0 0 4.IX 5.II 111 111 5 C0 0.00 IV.86 Deleterious 0 IV.32 184 PASS . . . . . 0.0038 0.0022 0.0014 . . 0.0051 . OR11H2:uc021rno.1:exon2:c.C703A:p.L235I OR11H2:NM_001197287:exon2:c.C703A:p.L235I . . 0.12222222 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.073 . @ . . . . . 1 0.039 . . 90.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Att|L235I|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.2037 -0.127 0.204 n . . . . . 2.114e-03 . . . 0.0181 0.0049 0.0016 0.0004 0.0059 0.0023 0.0073 0.0079 0.0176 0.0043 0.0018 0.0004 0.0061 0.0016 0.0082 0.0080 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.204 0.0022 . . . 0.46 0.29 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.640 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.078 . 0.288 . LowAF 0.01 rs11625510 . . . . . . . . . . . . . . . . . . . . . . . . . 0.069 . . . 0.0087 0.0020 0.0010 0.0001 0.0002 0.0044 0.0007 0.0007 0.0040 0.0100 0.0032 0.0027 0 0.0007 0.0003 0.0002 0.0035 . . 0.009 . . . . . . . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.068 . 0.085 . 0.024 . -0.355 . rs11625510 rs11625510 rs11625510 rs11625510 1 1538 10 1/0 0,232,255 +rs11628941 14 20181423 C T - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181423 20181423 Chr14(GRCh37):g.20181423C>T 653 653 NM_001197287.1:c.653G>A p.Ser218Asn p.Ser218Asn 2 679 3' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 20181414 0.001074 0.279203 0.000753 65.8857 rs11628941 yes no Frequency 1 C 0.000000 0 0.000034 0.000142 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000190 0.000142 8 2 0 0 0 0 5 0 1 235264 14094 31326 9428 16976 30068 106356 21758 5258 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 2 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 71 Exomes transition G A G>A 0.079 0.125 S Ser AGC 0.243 N Asn AAC 0.536 218 10 10 Giant panda 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C45 0.00 46.24 Deleterious 0 IV.32 180 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.G653A:p.S218N OR11H2:NM_001197287:exon2:c.G653A:p.S218N . . 0.11333334 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.098 . @ . . . . . 1 0.038 . . 150.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S218N|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.3180 -0.106 0.318 n . . . . . 8.868e-05 . . . 0.0003 9.157e-05 0 0 0 6.282e-05 0 0.0002 0.0003 0.0001 0 0 0 0.0002 0 0.0002 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.204 @ . . . 0.44 0.31 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.307 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.078 . 0.278 . LowAF 0.46 rs11628941 . . . . . . . . . . . . . . . . . . . . . . . . . 0.040 . . . 0.0001 3.4e-05 0 0 0 0 4.701e-05 0.0002 0 . . . . . . . . . . 0.009 . . . . . . . . 1.0E-180 0.000 0.063 . 0.074 0.185 . 0.066 . 0.282 . 0.642 . rs11628941 rs11628941 rs11628941 rs11628941 1 1538 10 1/0 0,210,255 +rs200825460 14 20181762 T G - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181762 20181762 Chr14(GRCh37):g.20181762T>G 314 314 NM_001197287.1:c.314A>C p.Lys105Thr p.Lys105Thr 2 340 3' 0 0 0 0 0 0 0 0 0 rs200825460 yes no Frequency 1 T 0.000000 0 0.004675 0.007185 0.002297 0.007224 0.001886 0.004557 0.005214 0.004872 0.003228 0.007224 419 90 27 14 17 32 187 44 8 89626 12526 11752 1938 9016 7022 35862 9032 2478 0.000022 0.000000 0.000170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 417 90 25 14 17 32 187 44 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.031 2.627 K Lys AAA 0.425 T Thr ACA 0.280 105 10 9 Giant panda -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 120.53 IX.71 Deleterious 0.03 IV.32 181 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.A314C:p.K105T OR11H2:NM_001197287:exon2:c.A314C:p.K105T . . 0.11627907 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.067 . @ . . . . . 1 0.045 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aCa|K105T|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.0660 -0.148 0.066 n . . . . . 1.748e-03 . . . 0.0316 0.0139 0.0051 0 0.0172 0.0109 0.04 0.01 0.0312 0.0150 0.0062 0 0.0098 0.0121 0 0.0101 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.193 @ . . . 0.4 0.33 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.415 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.207 . 0.489 . LowAF 0.01 rs200825460 . . . . . . . . . . . . . . . . . . . . . . . . . 0.165 . . . 0.0075 0.0045 0.0022 0.0071 0.0018 0.0055 0.0052 0.0035 0.0046 0.0069 0.0053 0.0043 0.0085 0.0025 0.0036 0.0052 0.0026 . . 0.009 . . . . . . . . 1.0E-181 0.513 0.268 . 0.043 0.180 . 0.472 . 0.287 . 0.728 . rs2815978 rs2815978 rs2815978 rs200825460 1 1538 10 1/0 0,234,255 +rs201517204 14 20181807 G A - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181807 20181807 Chr14(GRCh37):g.20181807G>A 269 269 NM_001197287.1:c.269C>T p.Ser90Phe p.Ser90Phe 2 295 3' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Weakly Activated 20181798 7.86772 0.911627 86.9652 7.58861 0.949341 89.6771 rs201517204 yes no Frequency 1 0.000000 0 0.001418 0.002229 0.001654 0.000000 0.000675 0.002728 0.000901 0.002171 0.001220 0.002728 127 28 21 0 6 19 32 18 3 89554 12560 12700 2196 8886 6964 35498 8290 2460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127 28 21 0 6 19 32 18 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.134 0.205 S Ser TCT 0.185 F Phe TTT 0.454 90 10 10 Giant panda -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C65 0.00 154.81 Deleterious 0 IV.32 176 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.C269T:p.S90F OR11H2:NM_001197287:exon2:c.C269T:p.S90F . . 0.10606061 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.055 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S90F|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.3754 -0.095 0.375 n . . . . . 2.520e-04 . . . 0.0053 0.0024 0.0046 0 0 0.0018 0 0 0.0041 0.0012 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.193 @ . . . 0.47 0.31 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.728 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.302 . 0.577 . LowAF 0.02 rs201517204 . . . . . . . . . . . . . . . . . . . . . . . . . 0.139 . . . 0.0015 0.0010 0.0013 0 0.0006 0.0011 0.0006 0.0006 0.0027 0.0029 0.0026 0.0082 0 0.0011 0.0043 0.0017 0.0030 . . 0.009 . . . . . . . . 1.0E-176 0.109 0.228 . 0.043 0.062 . 0.461 . 0.014 . 0.671 . rs2508162 rs2508162 rs2508162 rs201517204 1 1538 10 1/0 0,244,255 +rs767716308 14 20181810 A G - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181810 20181810 Chr14(GRCh37):g.20181810A>G 266 266 NM_001197287.1:c.266T>C p.Val89Ala p.Val89Ala 2 292 3' 0 0 0 0 0 0 0 0 0 rs767716308 yes no Frequency 1 0.000000 0 0.000176 0.001024 0.000077 0.000000 0.000000 0.000000 0.000028 0.000000 0.000398 0.001024 16 13 1 0 0 0 1 0 1 90766 12698 12980 2224 8946 6980 35920 8504 2514 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 13 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.291 0.528 V Val GTC 0.240 A Ala GCC 0.403 89 10 10 Giant panda 0 0 -1 0 0 5.IX 8.I 84 31 64 C65 0.00 65.28 Deleterious 0 IV.32 183 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.T266C:p.V89A OR11H2:NM_001197287:exon2:c.T266C:p.V89A . . 0.121212125 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.016 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gCc|V89A|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.2853 -0.111 0.285 n . . . . . 4.487e-05 . . . 0.0013 0.0005 0 0.0043 0 0 0 0 0.0020 0.0006 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.193 @ . . . 0.49 0.36 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.082 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.056 . 0.433 . LowAF 0.02 rs767716308 . . . . . . . . . . . . . . . . . . . . . . . . . 0.033 . . . 0.0010 0.0001 8.104e-05 0 0 0 0 0.0005 0 0.0011 0.0004 0 0 0 0 0.0001 0 . . 0.009 . . . . . . . . 1.0E-183 0.000 0.063 . 0.062 0.043 . 0.216 . 0.294 . -0.080 . rs61969156 rs61969156 rs61969156 rs61969156 1 1538 10 1/0 0,246,255 +rs759418864 14 20181888 A G - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181888 20181888 Chr14(GRCh37):g.20181888A>G 188 188 NM_001197287.1:c.188T>C p.Val63Ala p.Val63Ala 2 214 3' 0 0 0 0 0 0 0 0 0 rs759418864 yes no Frequency 1 0.000000 0 0.000255 0.000393 0.000311 0.000000 0.000157 0.000324 0.000267 0.000086 0.000000 0.000393 42 7 8 0 2 5 19 1 0 164632 17830 25724 6226 12700 15428 71064 11568 4092 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 7 8 0 2 5 19 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.417 -0.440 V Val GTC 0.240 A Ala GCC 0.403 63 10 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 65.28 0.00 Tolerated 1 IV.32 203 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.T188C:p.V63A OR11H2:NM_001197287:exon2:c.T188C:p.V63A . . 0.1724138 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.012 . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gCc|V63A|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . -0.3068 -0.198 -0.307 n . . . . . 1.607e-04 . . . 0.0002 4.681e-05 0 0 0 5.191e-05 0 0 0 2.049e-05 0 0 0 4.091e-05 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.193 @ . . . 0.51 0.3 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.158 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.036 . 0.176 . HET 1 rs759418864 . . . . . . . . . . . . . . . . . . . . . . . . . 0.006 . . . 0.0003 0.0002 0.0003 0 0.0002 9.872e-05 0.0002 0 0.0003 0.0007 0.0006 0.002 0 0 0 0.0006 0 . . 0.009 . . . . . . . . 1.0E-203 0.000 0.063 . 0.043 0.001 . 0.175 . 0.102 . -0.377 . . . rs71235604 rs71235604 1 1538 10 1/0 0,255,255 +rs61976670 14 20228227 G A - OR4H12P 19433 Olfactory receptor family 4 subfamily H member 12 pseudogene ENST00000556269.1 1 907 0 substitution exon GRCh37 20228227 20228227 Chr14(GRCh37):g.20228227G>A 201 201 ENST00000556269.1:n.201G>A 1 rs61976670 no no 0 G 0.000000 0 0.000067 0.000122 0.000000 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000122 2 1 0 0 0 0 1 0 0 29708 8210 808 296 1530 0 14514 3386 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition G A G>A 0.858 0.125 175 PASS . . . . . . . . . . . . . . . . 0.10285714 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 175.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.48 0.31 182 ENSG00000176312 . . . dist\x3d11699\x3bdist\x3d20255 dist\x3d11699\x3bdist\x3d20255 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs61976670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.732e-05 0 0 0 0 6.89e-05 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs61976670 rs61976670 rs61976670 rs61976670 1 1538 10 1/0 0,202,255 +rs61976671 14 20228250 C A - OR4H12P 19433 Olfactory receptor family 4 subfamily H member 12 pseudogene ENST00000556269.1 1 907 0 substitution exon GRCh37 20228250 20228250 Chr14(GRCh37):g.20228250C>A 224 224 ENST00000556269.1:n.224C>A 1 rs61976671 no no 0 C 0.000000 0 0.001122 0.001673 0.001319 0.000000 0.002046 0.000000 0.000786 0.000911 0.001068 0.002046 32 13 1 0 3 0 11 3 1 28512 7772 758 292 1466 0 13996 3292 936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 13 1 0 3 0 11 3 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transversion C A C>A 0.913 1.013 202 PASS . . . . . . . . . . . . . . . . 0.16477273 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 176.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.8176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.43 0.42 182 ENSG00000176312 . . . dist\x3d11722\x3bdist\x3d20232 dist\x3d11722\x3bdist\x3d20232 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.2 rs61976671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.65 . . . . . . . . . 0.0017 0.0011 0.0013 0 0.0020 0.0009 0.0008 0.0011 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs61976671 rs61976671 rs61976671 rs61976671 1 1538 10 1/0 0,207,255 +rs201578209 14 20228483 C G - OR4H12P 19433 Olfactory receptor family 4 subfamily H member 12 pseudogene ENST00000556269.1 1 907 0 substitution exon GRCh37 20228483 20228483 Chr14(GRCh37):g.20228483C>G 457 457 ENST00000556269.1:n.457C>G 1 rs201578209 yes no Frequency 1 C 0.000000 0 0.000377 0.000119 0.001289 0.000000 0.000000 0.000000 0.000576 0.000000 0.001059 0.001289 11 1 1 0 0 0 8 0 1 29166 8384 776 280 1516 0 13898 3368 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 1 0 0 0 8 0 1 0 0 0 0 0 0 0 0 0 RF 56 Genomes transversion C G C>G 0.000 0.205 195 PASS . . . . . . . . . . . . . . . . 0.14691943 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 211.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.3121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.39 0.35 182 ENSG00000176312 . . . dist\x3d11955\x3bdist\x3d19999 dist\x3d11955\x3bdist\x3d19999 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.15 rs201578209 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0004 0.0013 0 0 0 0.0006 0.0011 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs77756995 rs201578209 1 1538 10 1/0 0,199,255 +. 14 21553032 A C - ARHGEF40 25516 Rho guanine nucleotide exchange factor (GEF) 40 NM_018071.4 1 5937 4560 NP_060541.3 Q8TER5 substitution missense exon GRCh37 21553032 21553032 Chr14(GRCh37):g.21553032A>C 3910 3910 NM_018071.4:c.3910A>C p.Lys1304Gln p.Lys1304Gln 18 610018 -51 5' 83.5791 9.78232 0.969513 4.55633 83.5791 9.78232 0.969513 4.23762 0 Pleckstrin homology domain transversion A C A>C 1.000 2.950 K Lys AAG 0.575 Q Gln CAG 0.744 1304 12 11 Zebrafish 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 26.00 38.19 Deleterious 0.03 II.87 186 PASS . . . . . . . . . . . . . . . . 0.12765957 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.819 . @ . . . . . 1 0.766 . . 47.0 . . . . . . . . . . 0.4809 0.536 0.481 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.028 . . exonic exonic exonic . . 0.782 @ . . . . . . ENSG00000165801 ARHGEF40 ARHGEF40 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . T 0.385 0.017 . . 37 . 0.101 . . 0.345 . . . 0.444 0.335 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 0 0.265 . . . . . 0.601 . 0.610 . LowAF 0.01 . . . . . . . . . . . . . 13.3898 . . V.41 V.41 . 0.260000 . . . . . . 0.483 . . V.41 . . . . . . . . . . . . . . . . . . . 0.522 . 2.048 2.048000 . . 0.260000 . . 1.0E-186 1.000 0.715 . 0.625 0.821 . 0.790 . 0.866 2.048 1.062 . . . . . 1 1538 10 1.I 0,0,0 +rs61744173 14 21896192 G A - CHD8 20153 Chromodomain helicase DNA binding protein 8 NM_001170629.1 -1 8230 7746 NP_001164100.1 Q9HCK8 substitution synonymous exon GRCh37 21896192 21896192 Chr14(GRCh37):g.21896192G>A 1437 1437 NM_001170629.1:c.1437C>T p.Asn479= p.Asn479Asn 3 610528 -165 5' 83.5016 9.09532 0.991741 6.93812 83.5016 9.09532 0.991741 6.93812 0 rs61744173 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.007000 0.004300 0.009022 0.002081 0.002005 0.001872 0.000000 0.005685 0.012996 0.019077 0.007583 0.019077 2501 50 69 19 0 175 1647 492 49 277220 24022 34416 10150 18866 30782 126732 25790 6462 0.000180 0.000000 0.000000 0.000000 0.000000 0.000325 0.000205 0.000465 0.000310 25 0 0 0 0 5 13 6 1 2451 50 69 19 0 165 1621 480 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8251 4058 12309 99 8 107 0.0118563 0.00196754 0.00861791 0.0118563 0.00196754 0.00861791 142 transition C T C>T 1.000 1.900 N Asn AAC 0.536 N Asn AAT 0.464 479 255 PASS . 0.01 0.01 . 0.01 . 0.0022 0.0043 . 0.007 0.001 . . . . . 0.43589744 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . . 0.002 0.0086 0.012 0.002 0.0086 0.012 . I.96 . . . . . . . . 8.693e-03 . . . 0.0020 0.0071 0.0018 0 0.0163 0.0101 0.0071 0.0062 0.0021 0.0082 0.0019 0 0.0169 0.0111 0.0116 0.0062 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0022 . . . 0.45 0.26 182 ENSG00000100888 CHD8 CHD8 . . . . . . 785 0.0120814 64976 774 0.012903 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61744173 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.008618 . . . . III.57 0.0018 0.0089 0.0020 0.0019 0 0.0192 0.0129 0.0073 0.0057 0.0025 0.0097 0.0012 0 0 0.0183 0.0136 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs61744173 rs61744173 1 1538 10 1/0 0,250,255 +rs141218414 14 21945836 A G - RAB2B 20246 RAB2B, member RAS oncogene family NM_032846.3 -1 2928 651 NP_116235.2 Q8WUD1 substitution upstream GRCh37 21945836 21945836 Chr14(GRCh37):g.21945836A>G -805 -805 NM_032846.3:c.-805T>C p.? p.? 1 607466 -851 5' 81.5254 8.66175 0.948405 9.66492 81.5254 8.66175 0.948405 9.66492 0 rs141218414 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.001000 0.000000 0.008000 0.000000 0.008108 0.000688 0.001193 0.000000 0.000000 0.000000 0.009603 0.026045 0.009165 0.026045 251 6 1 0 0 0 144 91 9 30956 8724 838 302 1620 0 14996 3494 982 0.015936 0.000000 0.000000 0.000000 0.000000 0.000000 0.006944 0.032967 0.000000 4 0 0 0 0 0 1 3 0 243 6 1 0 0 0 142 85 9 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition T C T>C 0.000 -1.247 255 PASS . 0.0037 . . 0.01 . 0.0018 . . 0.008 0.001 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.9007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.17 0.19 182 ENSG00000092203 TOX4 TOX4 . . . . . . 190 0.00292416 64976 181 0.00301737 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141218414 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2422459 . . . . . . . . . . . . . . . 0.0007 0.0081 0.0012 0 0 0.0260 0.0096 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs141218414 rs141218414 1 1538 10 1/0 0,255,255 +rs141218414 14 21945836 A G - TOX4 20161 TOX high mobility group box family member 4 NM_014828.3 1 4526 1866 NP_055643.1 O94842 substitution intron GRCh37 21945836 21945836 Chr14(GRCh37):g.21945836A>G 75+113 75+113 NM_014828.3:c.75+113A>G p.? p.? 2 2 614032 113 5' 86.8044 8.70331 0.984098 10.1846 86.8044 8.70331 0.984098 10.1846 0 rs141218414 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.001000 0.000000 0.008000 0.000000 0.008108 0.000688 0.001193 0.000000 0.000000 0.000000 0.009603 0.026045 0.009165 0.026045 251 6 1 0 0 0 144 91 9 30956 8724 838 302 1620 0 14996 3494 982 0.015936 0.000000 0.000000 0.000000 0.000000 0.000000 0.006944 0.032967 0.000000 4 0 0 0 0 0 1 3 0 243 6 1 0 0 0 142 85 9 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition A G A>G 0.000 -1.247 255 PASS . 0.0037 . . 0.01 . 0.0018 . . 0.008 0.001 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.9007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.17 0.19 182 ENSG00000092203 TOX4 TOX4 . . . . . . 190 0.00292416 64976 181 0.00301737 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141218414 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2422459 . . . . . . . . . . . . . . . 0.0007 0.0081 0.0012 0 0 0.0260 0.0096 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs141218414 rs141218414 1 1538 10 1/0 0,255,255 +rs118145417 14 22038895 A G - OR10G3 8171 Olfactory receptor, family 10, subfamily G, member 3 NM_001005465.1 -1 942 942 NP_001005465.1 Q8NGC4 substitution upstream GRCh37 22038895 22038895 Chr14(GRCh37):g.22038895A>G -20 -20 NM_001005465.1:c.-20T>C p.? p.? 1 rs118145417 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.000000 0.003100 0.000000 0.005000 0.000000 0.004021 0.000923 0.001016 0.000185 0.000000 0.002720 0.006591 0.003568 0.005036 0.006591 854 21 27 1 0 51 682 47 25 212386 22752 26584 5412 17274 18748 103480 13172 4964 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 852 21 27 1 0 51 680 47 25 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8512 4352 12864 58 0 58 0.00676779 0 0.00448847 0.00676779 0 0.00448847 28 transition T C T>C 0.913 0.044 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.005 0.0031 . . . . . 0.52380955 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . UPSTREAM(MODIFIER||||OR10G3|mRNA|CODING|NM_001005465|) . 0.0045 0.0068 . 0.0045 0.0068 . 0.1179 . . . . . . . . 4.109e-03 . . . 0.0007 0.0034 0.0005 0 0.0037 0.0055 0.0035 0.0024 0.0006 0.0044 0.0005 0 0.0038 0.0068 0.0068 0.0023 . . . . . . upstream upstream upstream . . . 0.0016 . . . 0.38 0.19 182 ENSG00000169208 OR10G3 OR10G3 . . . . . . 296 0.00455553 64976 288 0.00480112 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs118145417 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2422459 0.004488 . . . . . 0.0008 0.0041 0.0010 0.0002 0 0.0038 0.0068 0.0053 0.0027 0.0011 0.0035 0.0024 0 0 0.0029 0.0055 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs118145417 rs118145417 1 1538 10 1/0 0,255,255 +. (chr14:22293554 G/GC) 14 22293554 G GC Not on a known gene +rs142953305 (chr14:22908077 C/T) 14 22908077 C T Not on a known gene +. (chr14:22975756 G/GCACACACACA) 14 22975756 G GCACACACACA Not on a known gene +. (chr14:22978451 G/GC) 14 22978451 G GC Not on a known gene +. (chr14:22999179 T/TC) 14 22999179 T TC Not on a known gene +. (chr14:23002265 GC/G) 14 23002265 GC G Not on a known gene +rs139766694 14 23465542 T A - C14orf93 20162 Chromosome 14 open reading frame 93 NM_001130706.2 -1 2244 1617 NP_001124178.1 Q9H972 substitution intron GRCh37 23465542 23465542 Chr14(GRCh37):g.23465542T>A 598-65 598-65 NM_001130706.2:c.598-65A>T p.? p.? 4 3 -65 3' 83.5794 6.35084 0.976625 5.21636 83.5794 6.35084 0.976625 5.49508 0 Cryptic Acceptor Strongly Activated 23465527 0.397358 0.000983 74.7683 0.896214 0.007655 74.7683 rs139766694 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.000000 0.002000 0.000000 0.014900 0.004300 0.007327 0.001259 0.004773 0.006623 0.000000 0.000000 0.010662 0.010876 0.012220 0.010876 227 11 4 2 0 0 160 38 12 30980 8736 838 302 1622 0 15006 3494 982 0.004405 0.000000 0.000000 0.000000 0.000000 0.000000 0.006250 0.000000 0.000000 1 0 0 0 0 0 1 0 0 225 11 4 2 0 0 158 38 12 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion A T A>T 0.008 0.125 255 PASS . 0.01 0.0028 . 0.01 . 0.004 0.0043 . 0.015 0.002 . . . . . 0.38709676 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . 0.1758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0040 . . . 0.45 0.17 182 ENSG00000258457 C14orf93 C14orf93 . . . . . . 663 0.0102038 64976 643 0.0107192 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139766694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0073 0.0048 0.0066 0 0.0109 0.0107 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs139766694 rs139766694 1 1538 10 1/0 0,255,255 +rs4144360 (chr14:23504238 G/A) 14 23504238 G A Transcript NM_002797.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PSMB5 +. 14 23548783 A AGACCGT - ACIN1 17066 Apoptotic chromatin condensation inducer 1 NM_014977.3 -1 4938 4026 NP_055792.1 Q9UKV3 insertion in-frame exon GRCh37 23548783 23548784 Chr14(GRCh37):g.23548783_23548784insGACCGT 1934 1935 NM_014977.3:c.1934_1935insACGGTC p.Arg646_Ser647dup p.Arg646_Ser647dup 6 604562 -28 5' 83.1949 8.39958 0.977237 8.09306 83.1949 8.39958 0.977237 8.90602 0 ACGGTC 255 Pass . . . . . . . . . . . . . . . . 0.44444445 . . . 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000100813 ACIN1 ACIN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +rs2231802 14 23829365 G A - EFS 16898 Embryonal Fyn-associated substrate NM_005864.3 -1 3120 1686 NP_005855.1 O43281 substitution synonymous exon GRCh37 23829365 23829365 Chr14(GRCh37):g.23829365G>A 423 423 NM_005864.3:c.423C>T p.Pro141= p.Pro141Pro 3 609906 -16 5' 87.5642 8.40856 0.871978 6.56833 87.5642 8.40856 0.871978 6.11721 0 rs2231802 yes no Frequency/1000G 2 G 0.000000 0 0.003395 0.000800 0.002000 0.000000 0.011900 0.002900 0.006700 0.001373 0.004736 0.001773 0.000106 0.007439 0.009149 0.007949 0.007423 0.009149 1857 33 163 18 2 229 1159 205 48 277178 24028 34416 10150 18868 30782 126680 25788 6466 0.000058 0.000000 0.000058 0.000000 0.000000 0.000065 0.000095 0.000000 0.000000 8 0 1 0 0 1 6 0 0 1841 33 161 18 2 227 1147 205 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4400 12931 69 6 75 0.00802326 0.00136178 0.00576657 0.00802326 0.00136178 0.00576657 77 transition C T C>T 0.087 -0.360 P Pro CCC 0.328 P Pro CCT 0.283 141 255 PASS 0.002 0.0041 . . 0.01 0.0008 0.0034 0.0029 . 0.012 0.002 . . . . . 0.49253732 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 134.0 . . . 0.0014 0.0058 0.008 0.0014 0.0058 0.008 . 0.5035 . . . . . . . . 6.811e-03 . . . 0.0015 0.0063 0.0045 0.0002 0.0055 0.0085 0.0098 0.0070 0.0015 0.0066 0.0044 0.0001 0.0060 0.0087 0.0130 0.0069 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0034 . . . 0.25 0.4 182 ENSG00000100842 EFS EFS . . . . . . 481 0.00740273 64976 465 0.00775181 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2231802 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv901493 0.005767 . . . . . 0.0014 0.0068 0.0048 0.0018 5.798e-05 0.0077 0.0092 0.0071 0.0074 0.0013 0.0061 0.0036 0 0.0006 0.0095 0.0088 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2231802 rs2231802 rs2231802 rs2231802 1 1538 10 1/0 0,247,255 +rs62621251 14 24662296 T C - TM9SF1 11864 Transmembrane 9 superfamily member 1 NM_006405.6 -1 2501 1821 NP_006396.2 O15321 substitution missense exon GRCh37 24662296 24662296 Chr14(GRCh37):g.24662296T>C 525 525 NM_006405.6:c.525A>G p.Ile175Met p.Ile175Met 3 180 3' 87.0458 9.30774 0.996411 7.59707 87.0458 9.30774 0.996411 7.59707 0 Nonaspanin (TM9SF) rs62621251 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.000000 0.000000 0.000000 0.012900 0.008600 0.007586 0.002123 0.004561 0.002364 0.000000 0.002501 0.010480 0.014888 0.012682 0.014888 2103 51 157 24 0 77 1328 384 82 277218 24020 34420 10152 18868 30782 126718 25792 6466 0.000079 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000465 0.000309 11 0 0 0 0 0 4 6 1 2081 51 157 24 0 77 1320 372 80 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8513 4397 12910 87 9 96 0.0101163 0.00204267 0.00738121 0.0101163 0.00204267 0.00738121 100 transition A G A>G 1.000 3.353 I Ile ATA 0.163 M Met ATG 1.000 175 12 11 Baker's yeast 2 1 2 0 0 5.II 5.VII 111 105 10 C0 28.68 0.00 Deleterious 0.01 III.47 255 PASS . 0.01 0.01 . 0.01 . 0.0038 0.0086 . 0.013 . . . . . . 0.45185184 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.592 . @ . . . . . 1 0.699 . . 135.0 . . . 0.002 0.0074 0.01 0.002 0.0074 0.01 . 0.2785 0.332 0.278 c . . . . . 8.058e-03 . . . 0.0022 0.0071 0.0056 0 0.0200 0.0100 0.0056 0.0032 0.0022 0.0080 0.0055 0 0.0160 0.0111 0.0086 0.0032 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.542 . . exonic exonic exonic . . 0.446 0.0038 . . . 0.49 0.29 182 . TM9SF1 TM9SF1 . . . 1.000 0.747 . 685 0.0105424 64976 667 0.0111193 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.536 . . 0.615 . . . 0.793 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.516 . . 0.595 . . . . . . 0 0.481 . . . . . 0.353 . 0.485 . HET 0.04 rs62621251 0.011 0.007 . . . . . 0.005036630036630037 0.0 0.008287292817679558 0.0 0.010554089709762533 9.0359 0.002943 . 5.I III.94 . 0.010000 . . . Name\x3dnsv1220 0.007381 . 0.494 . . III.94 0.0021 0.0076 0.0045 0.0024 0 0.0150 0.0106 0.0119 0.0025 0.0022 0.0075 0.0072 0 0 0.0143 0.0093 0.0173 . . 0.730 . 2.137 2.137000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.501 . 0.580 2.137 -0.013 0.011 rs62621251 rs62621251 rs62621251 rs62621251 1 1538 10 1/0 0,248,255 +rs139893717 14 24775287 G A - CIDEB 1977 Cell death-inducing DFFA-like effector b NM_001318807.1 -1 2385 660 NP_001305736.1 Q9UHD4 substitution synonymous exon GRCh37 24775287 24775287 Chr14(GRCh37):g.24775287G>A 393 393 NM_001318807.1:c.393C>T p.Ile131= p.Ile131Ile 7 604441 57 3' 0 1.82339 0.037777 I.13 0 1.82339 0.037777 0 0 rs139893717 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.002000 0.007200 0.004459 0.001707 0.002179 0.012313 0.000159 0.000942 0.007010 0.001551 0.005415 0.012313 1236 41 75 125 3 29 888 40 35 277172 24022 34418 10152 18870 30782 126670 25794 6464 0.000058 0.000000 0.000000 0.000394 0.000000 0.000065 0.000079 0.000000 0.000000 8 0 0 2 0 1 5 0 0 1220 41 75 121 3 27 878 40 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4397 12925 72 9 81 0.00837209 0.00204267 0.00622789 0.00837209 0.00204267 0.00622789 176 transition C T C>T 0.992 0.044 I Ile ATC 0.481 I Ile ATT 0.356 131 255 PASS . 0.0032 0.01 . 0.004 . 0.0016 0.0072 . 0.002 0.001 . . CIDEB:NM_014430:exon6:c.C393T:p.I131I . . 0.61702126 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 47.0 . . . 0.002 0.0062 0.0084 0.002 0.0062 0.0084 . 0.9505 . . . . . . . . 4.704e-03 . . . 0.0019 0.0044 0.0025 0.0004 0.0008 0.0077 0.0070 0.0008 0.0021 0.0045 0.0024 0.0003 0.0014 0.0075 0.0087 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.61 0.34 182 ENSG00000136305 CIDEB CIDEB . . . . . . 343 0.00527887 64976 335 0.00558464 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139893717 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006228 . . . . . 0.0019 0.0045 0.0022 0.0123 0.0002 0.0016 0.0070 0.0051 0.0009 0.0014 0.0041 0 0.0132 0 0.0011 0.0067 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139893717 rs139893717 1 1538 10 1/0 0,255,255 +rs139893717 14 24775287 G A - NOP9 19826 NOP9 nucleolar protein NM_174913.2 1 6043 1911 NP_777573.1 Q86U38 substitution 3'UTR GRCh37 24775287 24775287 Chr14(GRCh37):g.24775287G>A *986 *986 NM_174913.2:c.*986G>A p.? p.? 10 1144 3' 91.2065 8.87168 0.946046 VI.22 91.2065 8.87168 0.946046 VI.22 0 rs139893717 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.002000 0.007200 0.004459 0.001707 0.002179 0.012313 0.000159 0.000942 0.007010 0.001551 0.005415 0.012313 1236 41 75 125 3 29 888 40 35 277172 24022 34418 10152 18870 30782 126670 25794 6464 0.000058 0.000000 0.000000 0.000394 0.000000 0.000065 0.000079 0.000000 0.000000 8 0 0 2 0 1 5 0 0 1220 41 75 121 3 27 878 40 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4397 12925 72 9 81 0.00837209 0.00204267 0.00622789 0.00837209 0.00204267 0.00622789 176 transition G A G>A 0.992 0.044 255 PASS . 0.0032 0.01 . 0.004 . 0.0016 0.0072 . 0.002 0.001 . . CIDEB:NM_014430:exon6:c.C393T:p.I131I . . 0.61702126 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 47.0 . . . 0.002 0.0062 0.0084 0.002 0.0062 0.0084 . 0.9505 . . . . . . . . 4.704e-03 . . . 0.0019 0.0044 0.0025 0.0004 0.0008 0.0077 0.0070 0.0008 0.0021 0.0045 0.0024 0.0003 0.0014 0.0075 0.0087 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.61 0.34 182 ENSG00000136305 CIDEB CIDEB . . . . . . 343 0.00527887 64976 335 0.00558464 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139893717 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006228 . . . . . 0.0019 0.0045 0.0022 0.0123 0.0002 0.0016 0.0070 0.0051 0.0009 0.0014 0.0041 0 0.0132 0 0.0011 0.0067 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139893717 rs139893717 1 1538 10 1/0 0,255,255 +rs747354146 14 24806875 T G - RIPK3 10021 Receptor-interacting serine-threonine kinase 3 NM_006871.3 -1 1921 1557 NP_006862.2 Q9Y572 substitution intron GRCh37 24806875 24806875 Chr14(GRCh37):g.24806875T>G 900+26 900+26 NM_006871.3:c.900+26A>C p.? p.? 7 7 605817 26 5' 86.4167 XI.33 0.992836 XI.55 86.4167 XI.33 0.992836 XI.17 0 transversion A C A>C 0.008 1.013 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 82 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . 0.4322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000129465 RIPK3 RIPK3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.II . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs759141485 14 32031305 A G - NUBPL 20278 Nucleotide binding protein-like NM_025152.2 1 3059 960 NP_079428.2 Q8TB37 substitution missense exon GRCh37 32031305 32031305 Chr14(GRCh37):g.32031305A>G 140 140 NM_025152.2:c.140A>G p.Gln47Arg p.Gln47Arg 2 613621 32 3' 82.1034 3.89457 0.935235 7.45417 82.1034 3.89457 0.935235 7.98769 0 rs759141485 yes no Frequency 1 A uncertain_significance 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000819 0.000000 0.000819 21 0 0 0 0 0 0 21 0 271336 23490 34172 10060 18416 30336 122818 25656 6388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 0 0 0 0 0 0 21 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000197999.1 germline clinical testing VUS 1 not specified transition A G A>G 1.000 3.595 Q Gln CAA 0.256 R Arg CGA 0.110 47 13 8 C. elegans 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 196.80 5.VII Tolerated 0.45 3.VIII good 5.683E-1 0.6511 255 PASS . . . . . . . . . . . . NUBPL:uc001wrk.4:exon2:c.A140G:p.Q47R NUBPL:NM_025152:exon2:c.A140G:p.Q47R . . 0.4651163 . . germline 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.223 . Uncertain//\@significance Uncertain_significance RCV000197999.1 not_specified MedGen CN169374 1 0.612 . . 43.0 . . . . . . . . . . -0.0169 0.212 -0.017 c . . . . . 5.594e-05 . . . 0 3.205e-05 0 0 0.0006 0 0 0 0 8.758e-05 0 0 0.0012 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.914 @ . . . . . . ENSG00000151413 NUBPL NUBPL . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.335 . . . . T 0.095 0.004 . . 37 . 0.343 . . 0.105 . . . 0.413 0.341 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.336 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.682 . . . . . 0.615 . 0.302 . HET 0.37 rs759141485 . . . . . . . . . . . . 13.6378 . . V.78 V.78 . 0.170000 Q8TB37 . . . . . 0.486 . . V.78 0 4.992e-05 0 0 0 0.0005 0 0 0 0 0.0003 0 0 0 0.0026 0 0 . . 0.218 . 2.200 2.200000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.750 0.981 . 0.766 . 0.881 2.200 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs117806037 (chr14:32487775 C/G) 14 32487775 C G Not on a known gene +rs72669608 (chr14:34561605 C/T) 14 34561605 C T Not on a known gene +. 14 34993859 A ATGTGTGTGTG - EAPP 19312 E2F-associated phosphoprotein NM_018453.3 -1 1348 858 NP_060923.2 Q56P03 insertion intron GRCh37 34993859 34993860 Chr14(GRCh37):g.34993859_34993860insTGTGTGTGTG 581+43 581+44 NM_018453.3:c.581+43_581+44insCACACACACA p.? p.? 5 5 609486 43 5' 82.2818 8.99306 0.940982 2.26355 82.2818 8.99306 0.940982 1.26376 0 0.252196 0.235200 0.304700 0.188500 0.309100 0.220500 CACACACACA 255 Pass . . . . . 0.24 0.25 0.22 0.19 0.31 0.3 . . . . . 0.42857143 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 35 . . INTRON(MODIFIER||||EAPP|mRNA|CODING|NM_018453|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000129518 EAPP EAPP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111420332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111420332 rs111420332 1 1538 10 1.I 0,12,37 +rs61981524 14 34993863 A G - EAPP 19312 E2F-associated phosphoprotein NM_018453.3 -1 1348 858 NP_060923.2 Q56P03 substitution intron GRCh37 34993863 34993863 Chr14(GRCh37):g.34993863A>G 581+40 581+40 NM_018453.3:c.581+40T>C p.? p.? 5 5 609486 40 5' 82.2818 8.99306 0.940982 2.26355 82.2818 8.99306 0.940982 2.14588 0 rs61981524 yes no Frequency/1000G 2 A 0.000000 0 0.486022 0.453100 0.521500 0.434500 0.543700 0.489900 transition T C T>C 0.000 -0.763 255 PASS 0.39 0.37 0.33 0.24 0.46 0.45 0.49 0.49 0.43 0.54 0.52 . . . . . 0.51428574 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||EAPP|mRNA|CODING|NM_018453|) . . . . . . . -0.5880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4860 . . . 0.16 0.11 182 ENSG00000129518 EAPP EAPP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61981524 0.141 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs61981524 rs61981524 rs61981524 rs61981524 1 1538 10 1/0 0,255,255 +. 14 34993863 A ATGTGTGTGTGTGTG - EAPP 19312 E2F-associated phosphoprotein NM_018453.3 -1 1348 858 NP_060923.2 Q56P03 duplication intron GRCh37 34993863 34993864 Chr14(GRCh37):g.34993864_34993877dup 581+26 581+39 NM_018453.3:c.581+26_581+39dup p.? p.? 5 5 609486 39 5' 82.2818 8.99306 0.940982 2.26355 82.2818 8.99306 0.940982 1.90221 0 rs71121205 yes no Frequency 1 0.000000 0 0.271765 0.098300 0.314900 0.411700 0.260400 0.354500 CACACACACACACA 255 Pass . . . . . 0.098 0.27 0.35 0.41 0.26 0.31 . . . . . 0.29166666 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . INTRON(MODIFIER||||EAPP|mRNA|CODING|NM_018453|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000129518 EAPP EAPP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367795110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,54 +rs77411712 (chr14:36400962 C/T) 14 36400962 C T Not on a known gene +rs140584714 14 50088085 G T - MGAT2 7045 Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase NM_002408.3 1 2711 1344 NP_002399.1 Q10469 substitution missense exon GRCh37 50088085 50088085 Chr14(GRCh37):g.50088085G>T 99 99 NM_002408.3:c.99G>T p.Lys33Asn p.Lys33Asn 1 602616 rs140584714 yes no Frequency/1000G 2 G benign 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.003000 0.000000 0.001523 0.000343 0.001488 0.000802 0.000053 0.001435 0.002310 0.000117 0.002524 0.002310 412 8 51 8 1 44 281 3 16 270500 23326 34274 9978 18704 30652 121656 25572 6338 0.000015 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 408 8 51 8 1 42 279 3 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4402 12983 17 2 19 0.0019772 0.000454133 0.00146131 0.0019772 0.000454133 0.00146131 18 RCV000202676.1 unknown clinical testing Benign 1 not specified transversion G T G>T 1.000 2.223 K Lys AAG 0.575 N Asn AAT 0.464 33 11 9 Tetraodon 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 144.23 IV.86 Tolerated 0.53 III.32 good 1.332E-1 0.07047 255 PASS . 0.0005 . . 0.0013 . 0.0008 . . 0.003 0.001 ENSG00000168282:ENST00000305386:exon1:c.G99T:p.K33N MGAT2:uc001wwr.3:exon1:c.G99T:p.K33N MGAT2:NM_002408:exon1:c.G99T:p.K33N . . 0.47619048 . . unknown 40 . . 1.2.2016 0 0 0 0 0 0 1 0 0 0 0 0 . . . . . . 0.470 . Benign Benign RCV000202676.1 not_specified MedGen CN169374 1 0.640 . . 84.0 . . . 0.0005 0.0015 0.002 0.0005 0.0015 0.002 . 0.2442 0.294 0.244 c . . . . . 1.551e-03 . . . 0.0002 0.0019 0.0009 0 0 0.0032 0.0032 0.0014 0.0003 0.0015 0.0009 0.0001 0 0.0022 0.0046 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.898 . . exonic exonic exonic . . 0.464 0.0008 . . . 0.3 0.53 182 ENSG00000168282 MGAT2 MGAT2 . . . 1.000 0.747 . 122 0.00187762 64976 118 0.00196713 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.958 0.545 . . 37 . 0.823 . . 0.809 . . . 0.592 0.442 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.541 . . 0.441 . . . . . . 2 0.912 . . . . . 0.371 . 0.313 . HET 0 rs140584714 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 IX.56 2.68E-4 . V.88 4.VI . 0.050000 Q10469 . . Name\x3desv28926 0.001461 . 0.440 . . 4.VI 0.0001 0.0016 0.0015 0.0008 5.854e-05 0.0001 0.0023 0.0030 0.0014 0.0007 0.0012 0 0 0 0 0.0021 0 . . 0.072 . 0.844 0.844000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.750 0.999 . 0.440 . 0.713 0.844 0.917 0.002 . . rs140584714 rs140584714 1 1538 10 1/0 0,255,255 +rs140584714 14 50088085 G T - RPL36AL 10346 Ribosomal protein L36a-like NM_001001.4 -1 577 321 NP_000992.1 Q969Q0 substitution upstream GRCh37 50088085 50088085 Chr14(GRCh37):g.50088085G>T -842 -842 NM_001001.4:c.-842C>A p.? p.? 1 180469 -806 5' 81.1791 9.86249 0.992112 7.72602 81.1791 9.86249 0.992112 7.72602 0 rs140584714 yes no Frequency/1000G 2 G benign 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.003000 0.000000 0.001523 0.000343 0.001488 0.000802 0.000053 0.001435 0.002310 0.000117 0.002524 0.002310 412 8 51 8 1 44 281 3 16 270500 23326 34274 9978 18704 30652 121656 25572 6338 0.000015 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 408 8 51 8 1 42 279 3 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4402 12983 17 2 19 0.0019772 0.000454133 0.00146131 0.0019772 0.000454133 0.00146131 18 RCV000202676.1 unknown clinical testing Benign 1 not specified transversion C A C>A 1.000 2.223 255 PASS . 0.0005 . . 0.0013 . 0.0008 . . 0.003 0.001 ENSG00000168282:ENST00000305386:exon1:c.G99T:p.K33N MGAT2:uc001wwr.3:exon1:c.G99T:p.K33N MGAT2:NM_002408:exon1:c.G99T:p.K33N . . 0.47619048 . . unknown 40 . . 1.2.2016 0 0 0 0 0 0 1 0 0 0 0 0 . . . . . . 0.470 . Benign Benign RCV000202676.1 not_specified MedGen CN169374 1 0.640 . . 84.0 . . . 0.0005 0.0015 0.002 0.0005 0.0015 0.002 . 0.2442 0.294 0.244 c . . . . . 1.551e-03 . . . 0.0002 0.0019 0.0009 0 0 0.0032 0.0032 0.0014 0.0003 0.0015 0.0009 0.0001 0 0.0022 0.0046 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.898 . . exonic exonic exonic . . 0.464 0.0008 . . . 0.3 0.53 182 ENSG00000168282 MGAT2 MGAT2 . . . 1.000 0.747 . 122 0.00187762 64976 118 0.00196713 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.958 0.545 . . 37 . 0.823 . . 0.809 . . . 0.592 0.442 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.541 . . 0.441 . . . . . . 2 0.912 . . . . . 0.371 . 0.313 . HET 0 rs140584714 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 IX.56 2.68E-4 . V.88 4.VI . 0.050000 Q10469 . . Name\x3desv28926 0.001461 . 0.440 . . 4.VI 0.0001 0.0016 0.0015 0.0008 5.854e-05 0.0001 0.0023 0.0030 0.0014 0.0007 0.0012 0 0 0 0 0.0021 0 . . 0.072 . 0.844 0.844000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.750 0.999 . 0.440 . 0.713 0.844 0.917 0.002 . . rs140584714 rs140584714 1 1538 10 1/0 0,255,255 +rs140551199 14 50915566 C G - MAP4K5 6867 Mitogen-activated protein kinase kinase kinase kinase 5 NM_198794.2 -1 4435 2541 NP_942089.1 Q9Y4K4 substitution intron GRCh37 50915566 50915566 Chr14(GRCh37):g.50915566C>G 1016-16 1016-16 NM_198794.2:c.1016-16G>C p.? p.? 15 14 604923 -16 3' 86.133 8.49608 0.614541 5.40553 86.133 9.16183 0.82897 6.20881 0.142428 Cryptic Acceptor Weakly Activated 50915550 8.49608 0.614541 86.133 9.16183 0.82897 86.133 rs140551199 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.002000 0.005800 0.002664 0.000113 0.000858 0.029492 0.000000 0.000000 0.002546 0.000000 0.004002 0.029492 509 2 19 259 0 0 210 0 19 191096 17768 22146 8782 12860 20814 82484 21494 4748 0.000042 0.000000 0.000000 0.000683 0.000000 0.000000 0.000024 0.000000 0.000000 4 0 0 3 0 0 1 0 0 501 2 19 253 0 0 208 0 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8111 3648 11759 35 0 35 0.00429659 0 0.00296761 0.00429659 0 0.00296761 62 transversion G C G>C 0.173 0.205 255 PASS . 0.0014 0.01 . 0.0013 . 0.0012 0.0058 . 0.002 . . MAP4K5:uc001wyc.1:exon1:c.G22C:p.V8L . . . 0.5 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . 0.003 0.0043 . 0.003 0.0043 . 0.6055 . . . . . . . . 1.658e-03 . . . 0.0003 0.0048 0.0053 0 0 0.0098 0.0081 0 0.0004 0.0044 0.0051 0 0.0005 0.0109 0.0095 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . 0.0012 . . . 0.74 0.21 182 ENSG00000259113 MAP4K5 MAP4K5 . . . . . . 129 0.00198535 64976 123 0.00205048 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140551199 . . . . . . . . . . . . . . . . . . . . . . . 0.002968 . . . . . 0.0002 0.0029 0.0009 0.0290 0 0 0.0026 0.0050 0 0 0.0016 0 0.0430 0 0 0.0024 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs140551199 rs140551199 1 1538 10 1/0 0,255,255 +. 14 51713995 A ATCT - TMX1 15487 Thioredoxin-related transmembrane protein 1 NM_030755.4 1 4104 843 NP_110382.3 Q9H3N1 insertion intron GRCh37 51713996 51713997 Chr14(GRCh37):g.51713996_51713997insCTT 443+58 443+59 NM_030755.4:c.443+58_443+59insCTT p.? p.? 4 4 610527 58 5' 74.3427 7.96403 0.921696 0 74.3427 7.96403 0.921696 0 0 Cryptic Acceptor Strongly Activated 51714010 1.91685 0.000386 77.7974 3.88179 0.006004 77.7974 CTT 255 Pass . . . . . . . . . . . . . . . . 0.5217391 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . INTRON(MODIFIER||||TMX1|mRNA|CODING|NM_030755|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000139921 TMX1 TMX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,28 +rs371444265 14 52187089 A G - FRMD6 19839 FERM domain containing 6 NM_001267046.1 1 4852 1869 NP_001253975.1 Q96NE9 substitution synonymous exon GRCh37 52187089 52187089 Chr14(GRCh37):g.52187089A>G 1341 1341 NM_001267046.1:c.1341A>G p.Glu447= p.Glu447Glu 11 614555 -20 5' 73.1574 4.86721 0.539224 3.26928 73.1574 4.86721 0.539224 3.14141 0 rs371444265 yes no Frequency 1 A 0.000000 0 0.000026 0.000000 0.000000 0.000000 0.000000 0.000000 0.000040 0.000078 0.000000 0.000078 7 0 0 0 0 0 5 2 0 273514 23550 34394 10082 18816 30762 123730 25764 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4402 12999 1 0 1 0.000116306 0 7.69231e-05 0.000116306 0 7.69231e-05 29 transition A G A>G 0.362 -0.924 E Glu GAA 0.417 E Glu GAG 0.583 447 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.6957 . . . . . . . . 7.894e-06 . . . 0 1.158e-05 0 0 0 2.547e-05 0 0 0 9.701e-06 0 0 0 1.901e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.22 182 ENSG00000139926 FRMD6 FRMD6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371444265 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv901946 0.000077 . . . . . 0 2.474e-05 0 0 0 4.49e-05 4.599e-05 0 0 0 3.229e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs371444265 rs371444265 1 1538 10 1/0 0,250,255 +. 14 55848635 T C - ATG14 19962 Autophagy related 14 NM_014924.4 -1 4743 1479 NP_055739.2 Q6ZNE5 substitution intron GRCh37 55848635 55848635 Chr14(GRCh37):g.55848635T>C 877+45 877+45 NM_014924.4:c.877+45A>G p.? p.? 6 6 613515 45 5' 81.7977 7.53822 0.846293 0 81.7977 7.53822 0.846293 0 0 New Donor Site 55848636 2.37999 0.016752 65.7386 transition A G A>G 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . INTRON(MODIFIER||||ATG14|mRNA|CODING|NM_014924|) . . . . . . . -0.4290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000126775 ATG14 ATG14 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 59978366 A ATT - CCDC175 19847 Coiled-coil domain containing 175 NM_001164399.1 -1 2610 2382 NP_001157871.1 insertion intron GRCh37 59978366 59978367 Chr14(GRCh37):g.59978366_59978367insTT 2142+111 2142+112 NM_001164399.1:c.2142+111_2142+112insAA p.? p.? 18 18 111 5' 95.331 X.37 0.995648 0 95.331 X.37 0.995648 0 0 AA 255 Pass . . . . . . . . . . . . . . . . 0.9130435 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . INTRON(MODIFIER||||CCDC175|mRNA|CODING|NM_001164399|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000258782 CCDC175 CCDC175 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,4 +. 14 60932583 ACACACAC A - C14orf39 19849 Chromosome 14 open reading frame 39 NM_174978.2 -1 2763 1764 NP_777638.2 Q8N1H7 deletion intron GRCh37 60932583 60932589 Chr14(GRCh37):g.60932583_60932589del 972+108 972+114 NM_174978.2:c.972+108_972+114del p.? p.? 11 11 617307 108 5' 89.9194 X.02 0.961113 3.51669 89.9194 X.02 0.961113 3.51669 0 GTGTGTG 255 Pass . . . . . . . . . . . . . . . . 0.9411765 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . INTRON(MODIFIER||||C14orf39|mRNA|CODING|NM_174978|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000179008 C14orf39 C14orf39 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,2,3 +. 14 61191030 C A - SIX4 10890 SIX homeobox 4 NM_017420.4 -1 6275 2346 NP_059116.3 Q9UIU6 substitution upstream GRCh37 61191030 61191030 Chr14(GRCh37):g.61191030C>A -238 -238 NM_017420.4:c.-238G>T p.? p.? 1 606342 -1101 5' 89.5524 9.59704 0.99597 13.0013 89.5524 9.59704 0.99597 13.0013 0 New Donor Site 61191032 IV.85 0.18901 70.2698 rs927701002 yes no Frequency 1 C 0.000000 0 0.000162 0.000000 0.000000 0.006623 0.000000 0.000000 0.000134 0.000000 0.001020 0.006623 5 0 0 2 0 0 2 0 1 30834 8688 834 302 1614 0 14922 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 2 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 35 Genomes transversion G T G>T 1.000 2.627 255 PASS . . . . . . . . . . . . . . . . 0.5046729 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . UPSTREAM(MODIFIER||||SIX4|mRNA|CODING|NM_017420|) . . . . . . . II.57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 upstream . . . @ . . . . . . ENSG00000100625 SIX4 SIX4 ENST00000556952:c.-54G>T uc010app.1:c.-54G>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv902001 . . . . . 4.IV . . . . . . . . . 0 0.0002 0 0.0066 0 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066289 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066289 64066289 Chr14(GRCh37):g.64066289A>G 372 372 NM_001008726.2:c.372T>C p.Asn124= p.Asn124Asn 4 403 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs995642969 no no 0 A 0.000000 0 0.000033 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000118 1 1 0 0 0 0 0 0 0 30366 8510 818 302 1548 0 14784 3436 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.992 1.174 N Asn AAT 0.464 N Asn AAC 0.536 124 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . 1.1173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . II.77 . . . . . . . . . 0.0001 3.293e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066302 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066302 64066302 Chr14(GRCh37):g.64066302C>T 359 359 NM_001008726.2:c.359G>A p.Ser120Asn p.Ser120Asn 4 390 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs1049802936 no no 0 C 0.000000 0 0.000133 0.000236 0.000000 0.000000 0.000000 0.000000 0.000136 0.000000 0.000000 0.000236 4 2 0 0 0 0 2 0 0 30140 8470 812 298 1524 0 14664 3406 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition G A G>A 1.000 3.918 S Ser AGT 0.149 N Asn AAT 0.464 120 12 11 Baker's yeast 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 111.67 39.34 Tolerated 0.06 II.86 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.755 . @ . . . . . 1 0.723 . . 43.0 . . . . . . . . . . 0.8256 0.801 0.826 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.697 . . exonic exonic exonic . . 0.857 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.678 0.059 . . 37 . 0.819 . . 0.829 . . . 0.855 0.504 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.561 . . 0 0 0 0 0 0 . 0.899 . . 0.739 . . . . . . 0 0.599 . . . . . 0.976 . 0.424 . HET 0 . . . . . . . . . . . . . 20.0377 . . V.62 V.62 . 0.010000 Q96FK6 . . Name\x3ddgv137n21 . . 0.812 . . V.62 . . . . . . . . . 0.0002 0.0001 0 0 0 0 0.0001 0 . . 0.730 . 2.822 2.822000 . . 0.010000 . . 1.0E-200 1.000 0.715 . 0.587 0.999 . 0.649 . 0.490 2.822 0.871 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066303 T G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066303 64066303 Chr14(GRCh37):g.64066303T>G 358 358 NM_001008726.2:c.358A>C p.Ser120Arg p.Ser120Arg 4 389 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs889833191 no no 0 T 0.000000 0 0.000166 0.000236 0.000000 0.000000 0.000000 0.000000 0.000205 0.000000 0.000000 0.000236 5 2 0 0 0 0 3 0 0 30124 8470 808 298 1524 0 14656 3404 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion A C A>C 1.000 2.142 S Ser AGT 0.149 R Arg CGT 0.082 120 12 11 Baker's yeast -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C15 111.67 90.15 Deleterious 0.03 II.86 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.730 . @ . . . . . 1 0.891 . . 42.0 . . . . . . . . . . 0.7303 0.702 0.730 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.698 . . exonic exonic exonic . . 0.857 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.448 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.733 0.079 . . 37 . 0.807 . . 0.830 . . . 0.855 0.520 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.712 . . 0 0 0 0 0 0 . 0.899 . . 0.739 . . . . . . 0 0.682 . . . . . 0.812 . 0.978 . HET 0 . . . . . . . . . . . . . 16.1323 . . V.62 V.62 . 0.020000 Q96FK6 . . Name\x3ddgv137n21 . . 0.742 . . V.62 . . . . . . . . . 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.730 . 2.277 2.277000 . . 0.020000 . . 1.0E-202 1.000 0.715 . 0.574 0.998 . 0.579 . 0.807 2.277 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs201238690 14 64066326 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066326 64066326 Chr14(GRCh37):g.64066326C>T 335 335 NM_001008726.2:c.335G>A p.Gly112Asp p.Gly112Asp 4 366 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs201238690 yes no Frequency 1 C 0.000000 0 0.000073 0.000254 0.000000 0.000000 0.000214 0.000000 0.000063 0.000078 0.000000 0.000254 20 6 0 0 4 0 8 2 0 275580 23602 34336 10134 18734 30764 125994 25604 6412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 6 0 0 4 0 8 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 5.774 G Gly GGT 0.162 D Asp GAT 0.461 112 12 8 Frog -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 104.18 22.66 Tolerated 0.37 II.86 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.423 . @ . . . . . 1 0.922 . . 60.0 . . . . . . . . . . 0.6673 0.717 0.667 c . . . . . 7.893e-06 . . . 0 1.107e-05 0 0 0 2.384e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.714 . . exonic exonic exonic . . 0.857 @ . . . 0.59 0.35 182 ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.529 0.030 . . 37 . 0.746 . . 0.744 . . . 0.319 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.108 . . 0 0 0 0 0 0 . 0.764 . . 0.686 . . . . . . 0 0.614 . . . . . 0.976 . 0.572 . HET 0.01 rs201238690 . . . . . . . . . . . . 20.0377 . . V.62 V.62 . 0.130000 Q96FK6 . . Name\x3ddgv137n21 . . 0.930 . . V.62 0 4.066e-06 0 0 0 0 8.967e-06 0 0 0.0007 0.0006 0 0 0.0027 0.0006 0.0005 0 . . 0.730 . 2.822 2.822000 . . 0.130000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.766 . 0.490 2.822 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs766626787 14 64066328 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066328 64066328 Chr14(GRCh37):g.64066328C>T 333 333 NM_001008726.2:c.333G>A p.Lys111= p.Lys111Lys 4 364 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs766626787 yes no Frequency 1 C 0.000000 0 0.000777 0.000843 0.000000 0.000000 0.004021 0.000000 0.000554 0.000601 0.000000 0.004021 23 7 0 0 6 0 8 2 0 29590 8304 778 296 1492 0 14450 3330 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 0 0 6 0 8 2 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition G A G>A 1.000 1.739 K Lys AAG 0.575 K Lys AAA 0.425 111 251 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . I.47 . . . . . . . . 7.893e-06 . . . 0 1.107e-05 0 0 0 0 0.0014 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs766626787 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . V.62 . . . . . . . . . 0.0008 0.0008 0 0 0.0040 0.0006 0.0006 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066340 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066340 64066340 Chr14(GRCh37):g.64066340A>G 321 321 NM_001008726.2:c.321T>C p.Val107= p.Val107Val 4 352 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs901783679 no no 0 A 0.000000 0 0.001311 0.001556 0.001295 0.000000 0.004642 0.000000 0.000965 0.001196 0.000000 0.004642 39 13 1 0 7 0 14 4 0 29740 8356 772 294 1508 0 14512 3344 954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 13 1 0 7 0 14 4 0 0 0 0 0 0 0 0 0 0 RF 52 Genomes transition T C T>C 0.063 -1.005 V Val GTT 0.178 V Val GTC 0.240 107 252 PASS . . . . . . . . . . . . . . . . 0.31343284 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . 0.6019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0.0016 0.0013 0.0013 0 0.0046 0.0012 0.0010 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066352 T A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066352 64066352 Chr14(GRCh37):g.64066352T>A 309 309 NM_001008726.2:c.309A>T p.Arg103Ser p.Arg103Ser 4 340 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 Cryptic Acceptor Strongly Activated 64066336 2.4e-05 63.9783 0.843465 7.6e-05 63.9783 WD40 repeat WD40-repeat-containing domain rs1009886361 no no 0 T 0.000000 0 0.001884 0.002036 0.000000 0.000000 0.007324 0.000000 0.001516 0.001793 0.000000 0.007324 56 17 0 0 11 0 22 6 0 29728 8350 774 296 1502 0 14508 3346 952 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 17 0 0 11 0 22 6 0 0 0 0 0 0 0 0 0 0 RF 53 Genomes COSM5346712 Urinary tract 0.001488 672 transversion A T A>T 0.000 -0.198 R Arg AGA 0.205 S Ser AGT 0.149 103 12 2 Chimp -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 151.32 0.00 Tolerated 0.95 II.86 255 PASS . . . . . . . . . . . . . . . . 0.32394367 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.049 . . 71.0 . . . . . . . . . . -1.5243 -1.338 -1.524 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.639 . . exonic exonic exonic . . 0.169 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 0.915 0.264 . . . . . . . Uncertain_significance . 0 . 0.238 . . . . T 0.170 0.006 . . 37 . 0.191 . . 0.321 . . . 0.004 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.050 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.033 . . . . . 0.044 . 0.409 . HET 0.87 . . . . . . . . . . . . . II.63 . . V.63 0.646 . 1.000000 Q96FK6 . . Name\x3ddgv137n21 . . 0.070 . . . . . . . . . . . . 0.0020 0.0019 0 0 0.0073 0.0018 0.0015 0 . . 0.730 . 0.162 0.162000 . . 1.000000 . . 1.0E-255 0.004 0.165 . 0.458 0.035 . 0.163 . 0.108 0.162 -0.897 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066363 G A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution stop gain exon GRCh37 64066363 64066363 Chr14(GRCh37):g.64066363G>A 298 298 NM_001008726.2:c.298C>T p.Arg100* p.Arg100* 4 329 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs944955056 no no 0 G 0.000000 0 0.002055 0.002319 0.002667 0.000000 0.008075 0.000000 0.001393 0.002200 0.000000 0.008075 60 19 2 0 12 0 20 7 0 29192 8192 750 294 1486 0 14354 3182 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 19 2 0 12 0 20 7 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition C T C>T 1.000 3.030 R Arg CGA 0.110 * * TGA 0.489 100 255 PASS . . . . . . . . . . . . . . . . 0.35820895 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.959 . @ . . . . . 0 0.771 . . 67.0 . . . . . . . . . . 0.5640 0.402 0.564 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.596 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.638 . . . HET 1 . . . . . . . . . . . . . 14.0058 . . V.63 IV.74 . 1.000000 . . . Name\x3ddgv137n21 . . 0.908 . . IV.74 . . . . . . . . . 0.0023 0.0021 0.0027 0 0.0081 0.0022 0.0014 0 . . 0.730 . 1.517 1.517000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.406 0.665 . 0.931 . 0.206 1.517 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066367 A T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066367 64066367 Chr14(GRCh37):g.64066367A>T 294 294 NM_001008726.2:c.294T>A p.Asp98Glu p.Asp98Glu 4 325 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs968117645 no no 0 A 0.000000 0 0.002087 0.002194 0.002653 0.000000 0.007383 0.000000 0.001531 0.002509 0.000000 0.007383 61 18 2 0 11 0 22 8 0 29234 8206 754 294 1490 0 14368 3188 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 18 2 0 11 0 22 8 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transversion T A T>A 0.992 0.448 D Asp GAT 0.461 E Glu GAA 0.417 98 12 12 Baker's yeast 2 2 2 I.38 0.92 13 12.III 54 83 45 C35 0.00 44.60 Deleterious 0 II.86 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.530 . . 72.0 . . . . . . . . . . 0.0095 -0.116 0.010 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.682 . . exonic exonic exonic . . 0.108 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 0.923 0.267 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.697 . . 0.676 . . . 0.895 0.503 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.705 . . 0 0 0 0 0 0 . 0.559 . . 0.521 . . . . . . 0 0.912 . . . . . 0.157 . 0.663 . HET 0 . . . . . . . . . . . . . 5.441 . . V.63 -0.665 . 0.030000 Q96FK6 . . Name\x3ddgv137n21 . . 0.585 . . . . . . . . . . . . 0.0022 0.0021 0.0027 0 0.0074 0.0025 0.0015 0 . . 0.730 . -0.054 -0.054000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.512 0.856 . 0.376 . 0.263 -0.054 0.090 . . . . . 1 1538 10 1/0 0,255,255 +rs752646441 14 64066373 G A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066373 64066373 Chr14(GRCh37):g.64066373G>A 288 288 NM_001008726.2:c.288C>T p.Cys96= p.Cys96Cys 4 319 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs752646441 yes no Frequency 1 A 0.000000 0 0.000254 0.000936 0.000087 0.000000 0.000694 0.000000 0.000183 0.000353 0.000000 0.000936 70 22 3 0 13 0 23 9 0 275274 23502 34310 10140 18732 30780 125924 25482 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 22 3 0 13 0 23 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5764246 Large intestine 0.000448 2231 transition C T C>T 0.992 0.044 C Cys TGC 0.552 C Cys TGT 0.448 96 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . 1.1458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . III.24 0 4.064e-06 2.98e-05 0 0 0 0 0 0 0.0027 0.0024 0.0027 0 0.0087 0.0028 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs117229690 14 64066379 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066379 64066379 Chr14(GRCh37):g.64066379C>T 282 282 NM_001008726.2:c.282G>A p.Val94= p.Val94Val 4 313 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs117229690 yes no Frequency 1 C 0.000000 0 0.000349 0.001404 0.000233 0.000000 0.000694 0.000000 0.000230 0.000393 0.000468 0.001404 96 33 8 0 13 0 29 10 3 275306 23512 34320 10144 18732 30782 125936 25470 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 96 33 8 0 13 0 29 10 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8600 4402 13002 0 4 4 0 0.000907853 0.00030755 0 0.000907853 0.00030755 51 COSM5764303 Large intestine 0.000448 2231 transition G A G>A 0.386 -1.247 V Val GTG 0.468 V Val GTA 0.114 94 235 PASS . . . . . . . . . . . . . . . . 0.32857144 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . . 0.0009 0.0003 . 0.0009 0.0003 . . 0.1739 . . . . . . . . 9.471e-05 . . . 0.0004 0.0001 0.0003 0 0 7.138e-05 0 0 0.0004 9.438e-05 0.0004 0 0 3.687e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.24 182 ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117229690 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 0.000308 . . . . . 0.0003 6.501e-05 0.0002 0 0 0 1.792e-05 0.0004 0 0.0034 0.0027 0.0013 0 0.0087 0.0031 0.0019 0.0011 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.0009 . . rs117229690 rs117229690 1 1538 10 1/0 0,255,255 +. 14 64066394 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066394 64066394 Chr14(GRCh37):g.64066394A>G 267 267 NM_001008726.2:c.267T>C p.Cys89= p.Cys89Cys 4 298 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs959084766 no no 0 A 0.000000 0 0.003052 0.003175 0.005376 0.000000 0.008086 0.000000 0.002299 0.004104 0.001071 0.008086 89 26 4 0 12 0 33 13 1 29164 8188 744 292 1484 0 14354 3168 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 89 26 4 0 12 0 33 13 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition T C T>C 0.976 -0.037 C Cys TGT 0.448 C Cys TGC 0.552 89 255 PASS . . . . . . . . . . . . . . . . 0.33802816 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . I.40 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0.0032 0.0031 0.0054 0 0.0081 0.0041 0.0023 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066395 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066395 64066395 Chr14(GRCh37):g.64066395C>T 266 266 NM_001008726.2:c.266G>A p.Cys89Tyr p.Cys89Tyr 4 297 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs992348595 no no 0 C 0.000000 0 0.002951 0.003176 0.005405 0.000000 0.007442 0.000000 0.002091 0.004428 0.001071 0.007442 86 26 4 0 11 0 30 14 1 29142 8186 740 292 1478 0 14350 3162 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 26 4 0 11 0 30 14 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes COSM5764373 Large intestine 0.000448 2231 transition G A G>A 1.000 3.918 C Cys TGT 0.448 Y Tyr TAT 0.438 89 12 6 Frog -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 155.16 83.67 Deleterious 0.03 II.86 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.566 . @ . . . . . 1 0.722 . . 69.0 . . . . . . . . . . 0.7595 0.758 0.759 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.606 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.724 . . 0.733 . . . 0.776 0.465 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.783 . . 0 0 0 0 0 0 . 0.615 . . 0.604 . . . . . . 0 0.599 . . . . . 0.976 . 0.615 . HET 0.01 . . . . . . . . . . . . . 20.0572 . . V.63 V.63 . 0.020000 Q96FK6 . . Name\x3ddgv137n21 . . 0.701 . . V.63 . . . . . . . . . 0.0032 0.0030 0.0054 0 0.0074 0.0044 0.0021 0.0011 . . 0.730 . 2.826 2.826000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.476 0.993 . 0.665 . 0.490 2.826 0.871 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066398 G C - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066398 64066398 Chr14(GRCh37):g.64066398G>C 263 263 NM_001008726.2:c.263C>G p.Ala88Gly p.Ala88Gly 4 294 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs918064794 no no 0 G 0.000000 0 0.002918 0.003174 0.004054 0.000000 0.007422 0.000000 0.002232 0.003488 0.002137 0.007422 85 26 3 0 11 0 32 11 2 29134 8192 740 292 1482 0 14338 3154 936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 26 3 0 11 0 32 11 2 0 0 0 0 0 0 0 0 0 RF 54 Genomes COSM5764223 Large intestine 0.000448 2231 transversion C G C>G 1.000 2.950 A Ala GCA 0.226 G Gly GGA 0.246 88 12 9 Baker's yeast 0 0 0 0 0.74 8.I 9 31 3 60 C0 103.39 0.00 Tolerated 0.4 II.86 255 PASS . . . . . . . . . . . . . . . . 0.33802816 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.280 . @ . . . . . 1 0.519 . . 71.0 . . . . . . . . . . -0.1364 0.095 -0.136 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.512 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . . . . . . 37 . 0.356 . . 0.212 . . . 0.357 0.447 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.146 . . 0 0 0 0 0 0 . 0.197 . . 0.198 . . . . . . 0 0.181 . . . . . 0.976 . 0.444 . HET 0.25 . . . . . . . . . . . . . 20.0572 . . V.63 V.63 . 0.790000 Q96FK6 . . Name\x3ddgv137n21 . . 0.642 . . V.63 . . . . . . . . . 0.0032 0.0029 0.0041 0 0.0074 0.0035 0.0022 0.0021 . . 0.730 . 2.826 2.826000 . . 0.790000 . . 1.0E-255 1.000 0.715 . 0.486 0.988 . 0.544 . 0.713 2.826 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066402 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066402 64066402 Chr14(GRCh37):g.64066402A>G 259 259 NM_001008726.2:c.259T>C p.Ser87Pro p.Ser87Pro 4 290 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs940317302 no no 0 A 0.000000 0 0.002439 0.002446 0.004054 0.000000 0.008054 0.000000 0.001745 0.003175 0.001073 0.008054 71 20 3 0 12 0 25 10 1 29108 8178 740 292 1490 0 14326 3150 932 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 20 3 0 12 0 25 10 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition T C T>C 1.000 4.806 S Ser TCA 0.148 P Pro CCA 0.274 87 12 11 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 123.47 0.00 Tolerated 0.09 II.86 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.756 . @ . . . . . 1 0.966 . . 72.0 . . . . . . . . . . 0.9601 0.875 0.960 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.726 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.888 . . 0.924 . . . 0.976 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.641 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.614 . . . . . 0.813 . 0.986 . HET 0 . . . . . . . . . . . . . 16.1485 . . V.63 V.63 . 0.000000 Q96FK6 . . Name\x3ddgv137n21 . . 0.899 . . V.63 . . . . . . . . . 0.0024 0.0024 0.0041 0 0.0081 0.0032 0.0017 0.0011 . . 0.730 . 2.281 2.281000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.483 0.970 . 0.735 . 0.960 2.281 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs200323309 14 64066424 T C - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066424 64066424 Chr14(GRCh37):g.64066424T>C 237 237 NM_001008726.2:c.237A>G p.Ala79= p.Ala79Ala 4 268 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 Cryptic Acceptor Weakly Activated 64066409 4.73473 0.008871 75.2405 4.89506 0.016369 75.2405 WD40 repeat WD40-repeat-containing domain rs200323309 no no 0 T 0.000000 0 0.001668 0.001936 0.002681 0.000000 0.004011 0.000000 0.001040 0.003111 0.000000 0.004011 49 16 2 0 6 0 15 10 0 29372 8264 746 292 1496 0 14426 3214 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 16 2 0 6 0 15 10 0 0 0 0 0 0 0 0 0 0 RF 53 Genomes COSM5764347|COSM5764347 Liver|Large intestine 0.001265|0.000448 2371|2231 transition A G A>G 0.976 -0.198 A Ala GCA 0.226 A Ala GCG 0.107 79 252 PASS . . . . . . . . . . . . . . . . 0.31506848 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 1.0528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.31 182 ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200323309 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0.0019 0.0017 0.0027 0 0.0040 0.0031 0.0010 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . 0.011 . . rs200323309 rs200323309 1 1538 10 1/0 0,255,255 +rs75569502 14 64066431 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066431 64066431 Chr14(GRCh37):g.64066431C>T 230 230 NM_001008726.2:c.230G>A p.Arg77Lys p.Arg77Lys 4 261 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs75569502 no no 0 C 0.000000 0 0.001599 0.002174 0.002681 0.000000 0.004667 0.000000 0.000694 0.002800 0.001064 0.004667 47 18 2 0 7 0 10 9 1 29390 8280 746 292 1500 0 14418 3214 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 18 2 0 7 0 10 9 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes COSM5764199|COSM5764199 Liver|Large intestine 0.001265|0.000448 2371|2231 transition G A G>A 0.000 -0.521 R Arg AGA 0.205 K Lys AAA 0.425 77 12 6 Fruitfly 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 160.73 0.00 Tolerated 0.96 II.86 250 PASS . . . . . . . . . . . . . . . . 0.30882353 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.108 . . 68.0 . . . . . . . . . . -1.4293 -1.338 -1.429 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.592 . . exonic exonic exonic . . 0.032 @ . . . 0.57 0.28 182 ENSG00000140006 WDR89 WDR89 . . . 0.992 0.325 . . . . . . . Uncertain_significance . 0 . 0.128 . . . . T 0.192 0.007 . . 37 . 0.276 . . 0.381 . . . 0.131 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.033 . . . . . 0.357 . 0.320 . HET 1 rs75569502 0.011 0.007 . . . . . . . . . . 9.1087 . . V.63 -4.53 . 1.000000 Q96FK6 . . Name\x3ddgv137n21 . . 0.121 . . . . . . . . . . . . 0.0022 0.0016 0.0027 0 0.0047 0.0028 0.0007 0.0011 . . 0.730 . -0.628 -0.628000 . . 1.000000 . . 1.0E-250 0.002 0.151 . 0.230 0.984 . 0.160 . 0.003 -0.628 -0.275 0.011 . . rs75569502 rs75569502 1 1538 10 1/0 0,255,255 +rs779248521 14 64066451 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066451 64066451 Chr14(GRCh37):g.64066451A>G 210 210 NM_001008726.2:c.210T>C p.Pro70= p.Pro70Pro 4 241 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs779248521 yes no Frequency 1 A 0.000000 0 0.000120 0.000296 0.000029 0.000000 0.000107 0.000325 0.000048 0.000273 0.000000 0.000325 33 7 1 0 2 10 6 7 0 275980 23672 34364 10142 18764 30782 126212 25616 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 7 1 0 2 10 6 7 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5346214|COSM5346214 Urinary tract|Liver 0.001488|0.000422 672|2371 transition T C T>C 0.976 -0.037 P Pro CCT 0.283 P Pro CCC 0.328 70 251 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . I.90 . . . . . . . . 4.736e-05 . . . 0 6.638e-05 0 0 0 0 0 0.0004 0 5.666e-05 0 0 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779248521 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . 0 4.062e-05 0 0 0 0 0 0 0.0003 0.0008 0.0008 0.0013 0 0.0013 0.0021 0.0004 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs74383752 14 64066453 G A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066453 64066453 Chr14(GRCh37):g.64066453G>A 208 208 NM_001008726.2:c.208C>T p.Pro70Ser p.Pro70Ser 4 239 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs74383752 no no 0 G 0.000000 0 0.000637 0.000715 0.001276 0.000000 0.001318 0.000000 0.000206 0.002101 0.000000 0.002101 19 6 1 0 2 0 3 7 0 29846 8388 784 294 1518 0 14578 3332 952 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 6 1 0 2 0 3 7 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes COSM5346522 Urinary tract 0.001488 672 transition C T C>T 0.953 1.900 P Pro CCT 0.283 S Ser TCT 0.185 70 12 9 Fruitfly -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 93.73 34.34 Tolerated 0.15 II.86 242 PASS . . . . . . . . . . . . . . . . 0.28125 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.389 . . 64.0 . . . . . . . . . . -0.0853 0.115 -0.085 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.577 . . exonic exonic exonic . . 0.861 @ . . . 0.62 0.36 182 ENSG00000140006 WDR89 WDR89 . . . 1.000 0.424 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.242 0.009 . . 37 . 0.320 . . 0.201 . . . 0.051 0.467 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.351 . . 0.340 . . . . . . 0 0.416 . . . . . 0.862 . 0.228 . HET 0.18 rs74383752 . . . . . . . . . . . . 16.9959 . . V.63 V.63 . 0.750000 Q96FK6 . . Name\x3ddgv137n21 . . 0.579 . . V.63 . . . . . . . . . 0.0007 0.0006 0.0013 0 0.0013 0.0021 0.0002 0 . . 0.465 . 2.826 2.826000 . . 0.750000 . . 1.0E-242 0.988 0.363 . 0.315 0.666 . 0.449 . 0.713 2.826 0.917 . . . rs74383752 rs74383752 1 1538 10 1/0 0,255,255 +rs200681506 14 64066471 G A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution stop gain exon GRCh37 64066471 64066471 Chr14(GRCh37):g.64066471G>A 190 190 NM_001008726.2:c.190C>T p.Arg64* p.Arg64* 4 221 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs200681506 yes no Frequency 1 G 0.000000 0 0.000022 0.000084 0.000000 0.000000 0.000000 0.000065 0.000000 0.000078 0.000000 0.000084 6 2 0 0 0 2 0 2 0 276262 23770 34380 10140 18802 30780 126276 25686 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 2.869 R Arg CGA 0.110 * * TGA 0.489 64 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.846 . . 44.0 . . . . . . . . . . 0.9093 0.758 0.909 c . . . . . 1.579e-05 . . . 0 2.217e-05 0 0 0 0 0 0.0001 0 1.891e-05 0 0 0 0 0 0.0001 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.584 @ . . . 0.62 0.37 182 ENSG00000140006 WDR89 WDR89 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . 0.441 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.841 . . . LowAF 1 rs200681506 . . . . . . . . . . . . 16.5263 . . V.63 IV.69 . 0.480000 . . . Name\x3ddgv137n21 . . 0.616 . . IV.69 0 8.128e-06 0 0 0 0 0 0 6.498e-05 0.0002 0.0001 0 0 0 0.0006 0 0 . . 0.730 . 2.826 2.826000 . . 0.480000 . . 1.0E-190 1.000 0.715 . 0.170 0.122 . 0.482 . 0.093 2.826 -0.665 . . . rs200681506 rs200681506 1 1538 10 1/0 0,255,255 +rs774708081 14 64066472 T G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066472 64066472 Chr14(GRCh37):g.64066472T>G 189 189 NM_001008726.2:c.189A>C p.Leu63= p.Leu63Leu 4 220 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs774708081 yes no Frequency 1 T 0.000000 0 0.000099 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000588 0.000000 0.000588 3 1 0 0 0 0 0 2 0 30254 8510 804 298 1556 0 14722 3404 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion A C A>C 0.835 0.044 L Leu CTA 0.070 L Leu CTC 0.197 63 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . 0.9221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0.0001 9.916e-05 0 0 0 0.0006 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066484 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066484 64066484 Chr14(GRCh37):g.64066484C>T 177 177 NM_001008726.2:c.177G>A p.Arg59= p.Arg59Arg 4 208 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs1040237509 no no 0 C 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000292 0.000000 0.000292 1 0 0 0 0 0 0 1 0 30382 8542 808 300 1564 0 14786 3422 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.220 -1.328 R Arg AGG 0.207 R Arg AGA 0.205 59 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.6929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0 3.291e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs376507352 14 64518339 G A - SYNE2 17084 Spectrin repeat containing, nuclear envelope 2 NM_182914.2 1 21877 20724 NP_878918.2 substitution missense exon GRCh37 64518339 64518339 Chr14(GRCh37):g.64518339G>A 7708 7708 NM_182914.2:c.7708G>A p.Glu2570Lys p.Glu2570Lys 48 608442 65 3' 88.3814 8.05477 0.989863 4.10049 88.3814 8.05477 0.989863 3.96105 0 rs376507352 yes no Frequency 1 G 0.000000 0 0.000217 0.000083 0.000087 0.000000 0.000000 0.000000 0.000419 0.000039 0.000155 0.000419 60 2 3 0 0 0 53 1 1 276742 23988 34350 10144 18846 30772 126426 25770 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 2 3 0 0 0 53 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8146 3600 11746 6 0 6 0.000736016 0 0.000510551 0.000736016 0 0.000510551 47 transition G A G>A 1.000 2.465 E Glu GAG 0.583 K Lys AAG 0.575 2570 12 5 Chicken 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.05 III.32 good 2.122E-2 0.0002265 255 PASS . . . . . . . . . . . . . . . . 0.5686275 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.544 . @ . . . . . 1 0.748 . . 51.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . 0.1169 0.166 0.117 c . . . . . 2.317e-04 . . . 0.0001 0.0002 0 0 0 0.0005 0 0 0.0001 0.0002 0 0 0.0002 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.573 . . exonic exonic exonic . . 0.658 @ . . . 0.81 0.53 182 ENSG00000054654 SYNE2 SYNE2 . . . 0.998 0.370 . 8 0.000123122 64976 8 0.000133364 59986 Uncertain_significance . 0 . 0.447 . . . . D 0.617 0.045 . . 37 . 0.465 . . 0.321 . . . 0.651 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.420 . . 0 0 0 0 0 0 . 0.512 . . 0.477 . . . . . . 1 0.247 . . . . . 0.718 . 0.488 . HET 0.53 rs376507352 . . . . . . . . . . . . 15.0924 0.0 . 5.IX IV.99 . 0.600000 . . . . 0.000511 . 0.634 . . IV.99 6.556e-05 0.0002 8.952e-05 0 0 4.487e-05 0.0004 0.0002 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.730 . 1.455 1.455000 . . 0.600000 . . 1.0E-255 1.000 0.715 . 0.294 0.524 . 0.620 . 0.188 1.455 -0.030 0.0007 . . rs376507352 rs376507352 1 1538 10 1/0 0,255,255 +rs149186357 14 65252552 G A - MIR7855 50244 MicroRNA 7855 NR_107009.1 -1 61 0 substitution upstream GRCh37 65252552 65252552 Chr14(GRCh37):g.65252552G>A -148 -148 NR_107009.1:n.-148C>T p.? p.? 1 rs149186357 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001768 0.000083 0.000029 0.001773 0.000000 0.000000 0.002480 0.005350 0.002631 0.005350 490 2 1 18 0 0 314 138 17 277100 24002 34414 10152 18868 30782 126628 25792 6462 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000310 4 0 0 0 0 0 2 1 1 482 2 1 18 0 0 310 136 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4406 12992 14 0 14 0.00162791 0 0.00107643 0.00162791 0 0.00107643 195 transition C T C>T 1.000 0.851 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.44247788 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.498 . @ . . . . . 1 0.773 . . 113.0 . . . . 0.0011 0.0016 . 0.0011 0.0016 . -0.3450 -0.226 -0.345 c . . . . . 1.989e-03 . . . 9.632e-05 0.0011 0 0 0.0060 0.0018 0.0028 0 0.0001 0.0019 0 0 0.0051 0.0030 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.491 . . exonic exonic exonic . . 0.334 0.0006 . . . 0.47 0.36 182 ENSG00000070182 SPTB SPTB . . . 0.654 0.222 . 80 0.00123122 64976 77 0.00128363 59986 Benign . 0 . 0.366 . . . . T 0.258 0.010 . . 37 . 0.288 . . 0.370 . . . 0.281 0.341 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.182 . . 0.227 . . . . . . 0 0.586 . . . . . 0.063 . 0.756 . HET 0.02 rs149186357 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 III.57 0.0 . IV.94 II.98 . 0.010000 . . . Name\x3desv2748779 0.001076 . 0.222 . . II.98 6.535e-05 0.0017 2.978e-05 0.0018 0 0.0053 0.0023 0.0024 0 0.0001 0.0025 0 0 0 0.0054 0.0035 0.0041 . . 0.372 . 2.451 2.451000 . . 0.010000 . . 1.0E-255 0.034 0.205 . 0.888 0.994 . 0.306 . 0.645 2.451 -0.045 0.004 . . rs149186357 rs149186357 1 1538 10 1/0 0,254,255 +rs149186357 14 65252552 G A - SPTB 11274 Spectrin beta, erythrocytic NM_001024858.3 -1 10296 6987 NP_001020029.1 substitution missense exon GRCh37 65252552 65252552 Chr14(GRCh37):g.65252552G>A 3679 3679 NM_001024858.3:c.3679C>T p.Pro1227Ser p.Pro1227Ser 16 182870 -86 5' 71.0434 7.04051 0.921284 7.66472 71.0434 7.04051 0.921284 7.66472 0 Spectrin repeat Spectrin/alpha-actinin Spectrin, beta subunit rs149186357 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001768 0.000083 0.000029 0.001773 0.000000 0.000000 0.002480 0.005350 0.002631 0.005350 490 2 1 18 0 0 314 138 17 277100 24002 34414 10152 18868 30782 126628 25792 6462 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000310 4 0 0 0 0 0 2 1 1 482 2 1 18 0 0 310 136 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4406 12992 14 0 14 0.00162791 0 0.00107643 0.00162791 0 0.00107643 195 CM971416 Spherocytosis 9207476 DM transition C T C>T 1.000 0.851 P Pro CCT 0.283 S Ser TCT 0.185 1227 12 7 Dog -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 85.32 49.72 Tolerated 0.32 III.66 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.44247788 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.498 . @ . . . . . 1 0.773 . . 113.0 . . . . 0.0011 0.0016 . 0.0011 0.0016 . -0.3450 -0.226 -0.345 c . . . . . 1.989e-03 . . . 9.632e-05 0.0011 0 0 0.0060 0.0018 0.0028 0 0.0001 0.0019 0 0 0.0051 0.0030 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.491 . . exonic exonic exonic . . 0.334 0.0006 . . . 0.47 0.36 182 ENSG00000070182 SPTB SPTB . . . 0.654 0.222 . 80 0.00123122 64976 77 0.00128363 59986 Benign . 0 . 0.366 . . . . T 0.258 0.010 . . 37 . 0.288 . . 0.370 . . . 0.281 0.341 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.182 . . 0.227 . . . . . . 0 0.586 . . . . . 0.063 . 0.756 . HET 0.02 rs149186357 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 III.57 0.0 . IV.94 II.98 . 0.010000 . . . Name\x3desv2748779 0.001076 . 0.222 . . II.98 6.535e-05 0.0017 2.978e-05 0.0018 0 0.0053 0.0023 0.0024 0 0.0001 0.0025 0 0 0 0.0054 0.0035 0.0041 . . 0.372 . 2.451 2.451000 . . 0.010000 . . 1.0E-255 0.034 0.205 . 0.888 0.994 . 0.306 . 0.645 2.451 -0.045 0.004 . . rs149186357 rs149186357 1 1538 10 1/0 0,254,255 +rs563162195 14 65470859 A G - CHURC1-FNTB 42960 CHURC1-FNTB readthrough NM_001202559.1 1 2894 1497 NP_001189488.1 substitution intron GRCh37 65470859 65470859 Chr14(GRCh37):g.65470859A>G 328-108 328-108 NM_001202559.1:c.328-108A>G p.? p.? 4 3 -108 3' 83.8712 7.75785 0.8704 5.76911 83.8712 7.75785 0.8704 5.76911 0 rs563162195 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002131 0.000115 0.000000 0.000000 0.000000 0.000000 0.003397 0.002862 0.004082 0.003397 66 1 0 0 0 0 51 10 4 30978 8730 838 302 1620 0 15014 3494 980 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.019608 0.000000 0.000000 1 0 0 0 0 0 1 0 0 64 1 0 0 0 0 49 10 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -0.279 229 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.24193548 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . 0.1012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 65 0.00100037 64976 64 0.00106692 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs563162195 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2748779 . . . . . . . . . . . . . . . 0.0001 0.0021 0 0 0 0.0029 0.0034 0.0041 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs563162195 14 65470859 A G - FNTB 3785 Farnesyltransferase, CAAX box, beta NM_002028.3 1 2819 1314 NP_002019.1 P49356 substitution intron GRCh37 65470859 65470859 Chr14(GRCh37):g.65470859A>G 145-108 145-108 NM_002028.3:c.145-108A>G p.? p.? 2 1 134636 -108 3' 83.8712 7.75785 0.8704 5.76911 83.8712 7.75785 0.8704 5.76911 0 rs563162195 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002131 0.000115 0.000000 0.000000 0.000000 0.000000 0.003397 0.002862 0.004082 0.003397 66 1 0 0 0 0 51 10 4 30978 8730 838 302 1620 0 15014 3494 980 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.019608 0.000000 0.000000 1 0 0 0 0 0 1 0 0 64 1 0 0 0 0 49 10 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -0.279 229 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.24193548 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . 0.1012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 65 0.00100037 64976 64 0.00106692 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs563162195 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2748779 . . . . . . . . . . . . . . . 0.0001 0.0021 0 0 0 0.0029 0.0034 0.0041 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs563162195 14 65470859 A G - MAX 6913 MYC associated factor X NM_002382.4 -1 2040 483 NP_002373.3 P61244 substitution downstream GRCh37 65470859 65470859 Chr14(GRCh37):g.65470859A>G *72335 *72335 NM_002382.4:c.*72335T>C p.? p.? 5 154950 72523 3' 77.288 7.81083 0.926467 6.36397 77.288 7.81083 0.926467 6.36397 0 Cryptic Donor Strongly Activated 65470863 5.52661 0.083831 72.1684 VI.83 0.226763 71.5568 rs563162195 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002131 0.000115 0.000000 0.000000 0.000000 0.000000 0.003397 0.002862 0.004082 0.003397 66 1 0 0 0 0 51 10 4 30978 8730 838 302 1620 0 15014 3494 980 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.019608 0.000000 0.000000 1 0 0 0 0 0 1 0 0 64 1 0 0 0 0 49 10 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition T C T>C 0.000 -0.279 229 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.24193548 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . 0.1012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 65 0.00100037 64976 64 0.00106692 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs563162195 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2748779 . . . . . . . . . . . . . . . 0.0001 0.0021 0 0 0 0.0029 0.0034 0.0041 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs540237947 14 68045562 G A - PLEKHH1 17733 Pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 NM_020715.2 1 6540 4095 NP_065766.1 Q9ULM0 substitution intron GRCh37 68045562 68045562 Chr14(GRCh37):g.68045562G>A 2849+214 2849+214 NM_020715.2:c.2849+214G>A p.? p.? 20 20 214 5' 95.6376 X.36 0.995241 X.55 95.6376 X.36 0.995241 X.55 0 New Acceptor Site 68045564 8.38031 0.635722 77.6741 rs540237947 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000452 0.000229 0.001193 0.003311 0.000000 0.000000 0.000667 0.000000 0.000000 0.003311 14 2 1 1 0 0 10 0 0 30956 8726 838 302 1620 0 14998 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 2 1 1 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 0.367 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.46268657 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . INTRON(MODIFIER||||PLEKHH1|mRNA|CODING|NM_020715|) . . . . . . . 0.3452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000054690 PLEKHH1 PLEKHH1 . . . . . . 16 0.000246245 64976 15 0.000250058 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs540237947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0005 0.0012 0.0033 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs66798921 14 68191112 T G - RDH12 19977 Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) NM_152443.2 1 1878 951 NP_689656.2 Q96NR8 substitution intron GRCh37 68191112 68191112 Chr14(GRCh37):g.68191112T>G 69-78 69-78 NM_152443.2:c.69-78T>G p.? p.? 4 3 608830 -78 3' 78.2683 8.63951 0.930361 6.50217 78.2683 8.63951 0.930361 6.55983 0 rs66798921 no no 0 T 0.000000 0 transversion T G T>G 0.000 -2.135 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||RDH12|mRNA|CODING|NM_152443|) . . . . . . . -0.9580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.35 182 ENSG00000139988 RDH12 RDH12 . . . . . . 67 0.00103115 64976 4 6.66822e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs66798921 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.011 . . rs66798921 rs66798921 1 1538 10 1/0 0,255,255 +rs149668062 14 71570256 A G - PCNX1 19740 Pecanex homolog 1 (Drosophila) NM_014982.2 1 12919 7026 NP_055797.2 Q96RV3 substitution missense exon GRCh37 71570256 71570256 Chr14(GRCh37):g.71570256A>G 5965 5965 NM_014982.2:c.5965A>G p.Ile1989Val p.Ile1989Val 32 617655 -131 5' 89.8591 9.60237 0.989521 5.72214 89.8591 9.60237 0.989521 5.72214 0 Pecanex rs149668062 yes no Frequency 1 A 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 0.000111 14 0 0 0 0 0 14 0 0 277154 24026 34418 10148 18866 30782 126652 25794 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 150 transition A G A>G 1.000 4.967 I Ile ATT 0.356 V Val GTT 0.178 1989 12 10 Fruitfly 3 3 4 0 0 5.II 5.IX 111 84 29 C0 234.99 0.00 Tolerated 0.33 III.25 good 2.658E-1 0.00132 255 PASS . . . . . . . . . . . . . . . . 0.54761904 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.779 . @ . . . . . 1 0.955 . . 84.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.6472 0.669 0.647 c . . . . . 3.946e-05 . . . 0 3.306e-05 0 0 0 7.119e-05 0 0 0 3.766e-05 0 0 0 7.36e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.772 @ . . . 0.46 0.37 182 ENSG00000100731 PCNX PCNX . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.515 0.029 . . 37 . 0.520 . . 0.550 . . . 0.480 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.657 . . 0.790 . . . . . . 0 0.339 . . . . . 0.771 . 0.667 . HET 0.02 rs149668062 . . . . . . . . . . . . 15.693 0.0 . V.38 V.38 . 0.200000 . . . . 0.000154 . 0.688 . . V.38 0 4.874e-05 0 0 0 0 0.0001 0 0 0 6.459e-05 0 0 0 0 0.0001 0 . . 0.830 . 2.160 2.160000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.682 . 0.866 2.160 1.062 0.0002 . . rs149668062 rs149668062 1 1538 10 1/0 0,255,255 +rs138234941 14 72040381 G A - SIPA1L1 20284 Signal induced proliferation associated 1 like 1 NM_001354285.1 1 8034 5415 NP_001341214.1 O43166 substitution intron GRCh37 72040381 72040381 Chr14(GRCh37):g.72040381G>A -14209 -14209 NM_001354285.1:c.-302-13907G>A p.? p.? 5 4 617504 -13907 3' 87.5738 11.1873 0.994738 VII.16 87.5738 11.1873 0.994738 VII.16 0 rs138234941 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.011200 0.000000 0.008000 0.000000 0.005765 0.001073 0.002318 0.001918 0.000000 0.012060 0.008048 0.002728 0.003481 0.012060 925 16 57 16 0 272 524 24 16 160440 14914 24586 8344 11536 22554 65112 8798 4596 0.000037 0.000000 0.000000 0.000000 0.000000 0.000177 0.000031 0.000000 0.000000 3 0 0 0 0 2 1 0 0 919 16 57 16 0 268 522 24 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.286 255 PASS . 0.0027 . . 0.01 . 0.0038 . . 0.008 0.011 . SIPA1L1:uc001xmr.1:exon4:c.G192A:p.E64E . . . 0.5531915 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.0636 . . . . . . . . 8.666e-03 . . . 0 0.0109 0 0 0 0.0067 0.0152 0.0139 0 0.0107 0 0 0 0.0033 0.0169 0.0140 . synonymous_SNV . . . . intronic exonic intronic . . . 0.0038 . . . 0.42 0.4 182 ENSG00000197555 SIPA1L1 SIPA1L1 . . . . . . 357 0.00549434 64976 338 0.00563465 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138234941 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0059 0.0022 0.0019 0 0.0030 0.0079 0.0025 0.0121 0.0009 0.0051 0.0060 0.0033 0 0.0023 0.0085 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138234941 rs138234941 1 1538 10 1/0 0,255,255 +rs201194571 14 73730639 C T - PAPLN 19262 Papilin, proteoglycan-like sulfated glycoprotein NM_173462.3 1 5834 3756 NP_775733.3 substitution intron GRCh37 73730639 73730639 Chr14(GRCh37):g.73730639C>T 2780+149 2780+149 NM_173462.3:c.2780+149C>T p.? p.? 19 19 617785 149 5' 85.557 8.56441 0.810821 9.40308 85.557 8.56441 0.810821 9.40308 0 Cryptic Acceptor Weakly Activated 73730650 X.13 0.908045 80.253 X.79 0.952586 84.3549 rs201194571 no no 0 T 0.000000 0 0.001343 0.000539 0.002667 0.000000 0.019264 0.000000 0.000322 0.000926 0.000000 0.019264 35 4 2 0 22 0 4 3 0 26056 7422 750 246 1142 0 12426 3238 832 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 34 Genomes transition C T C>T 0.000 -3.426 243 PASS . . . . . . . . . . . . . . . . 0.28 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||PAPLN|mRNA|CODING|NM_173462|) . . . . . . . -0.7758 . . . . . . . . . . . . 0 0.0007 0.0069 0.0429 . 0.0007 0 0.0001 0 0.0007 0.0078 0.0299 . 0.0004 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.2 182 ENSG00000100767 PAPLN PAPLN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201194571 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . 0.0005 0.0013 0.0027 0 0.0193 0.0009 0.0003 0 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs201194571 rs201194571 1 1538 10 1/0 0,255,255 +. 14 74449980 CCT C - ENTPD5 3367 Ectonucleoside triphosphate diphosphohydrolase 5 NM_001249.3 -1 5296 1287 NP_001240.1 O75356 deletion intron GRCh37 74449981 74449982 Chr14(GRCh37):g.74449981_74449982del 298-118 298-117 NM_001249.3:c.298-118_298-117del p.? p.? 6 5 603162 -117 3' 85.3453 7.04853 0.426077 2.38516 85.3453 7.04853 0.426077 2.38516 0 New Donor Site 74449983 2.94954 0.396635 71.6602 rs71907518 yes no Frequency/1000G 2 0.000000 0 0.006190 0.000000 0.003100 0.000000 0.022900 0.007200 0.009854 0.002864 0.004773 0.006623 0.000000 0.000000 0.016607 0.004585 0.009165 0.016607 305 25 4 2 0 0 249 16 9 30952 8728 838 302 1618 0 14994 3490 982 0.006557 0.000000 0.000000 0.000000 0.000000 0.000000 0.008032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 301 25 4 2 0 0 245 16 9 0 0 0 0 0 0 0 0 0 PASS 40 Genomes AG 255 Pass . 0.01 0.01 . 0.02 . 0.0062 0.0072 . 0.023 0.0031 . . . . . 0.38235295 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . INTRON(MODIFIER||||ENTPD5|mRNA|CODING|NM_001249|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000187097 ENTPD5 ENTPD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs398057243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0099 0.0048 0.0066 0 0.0046 0.0166 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs71907518 rs71907518 1 1538 10 1.I 0,12,42 +rs45516495 14 74756117 C T - ABCD4 68 ATP binding cassette subfamily D member 4 NM_005050.3 -1 3157 1821 NP_005041.1 O14678 substitution intron GRCh37 74756117 74756117 Chr14(GRCh37):g.74756117C>T 1456+69 1456+69 NM_005050.3:c.1456+69G>A p.? p.? 14 14 603214 69 5' 89.8591 9.60237 0.968546 3.35918 89.8591 9.60237 0.968546 3.10157 0 rs45516495 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.000000 0.002000 0.000000 0.007000 0.002900 0.002489 0.000803 0.001193 0.000000 0.000000 0.000000 0.004470 0.000287 0.001020 0.004470 77 7 1 0 0 0 67 1 1 30940 8722 838 302 1620 0 14988 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 7 1 0 0 0 67 1 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.008 0.125 255 PASS . . . . . . . . . . . . . . . . 0.47727272 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.0431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0024 . . . 0.17 0.05 182 ENSG00000258559 ABCD4 ABCD4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45516495 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv902096 . . . . . . . . . . . . . . . 0.0008 0.0025 0.0012 0 0 0.0003 0.0045 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs45516495 rs45516495 rs45516495 rs45516495 1 1538 10 1/0 0,255,255 +rs61989361 14 77273653 G T - ANGEL1 19961 Angel homolog 1 (Drosophila) NM_015305.3 -1 4111 2013 NP_056120.2 Q9UNK9 substitution intron GRCh37 77273653 77273653 Chr14(GRCh37):g.77273653G>T 946+123 946+123 NM_015305.3:c.946+123C>A p.? p.? 4 4 123 5' 69.4997 5.68445 0.152599 2.02589 69.4997 5.68445 0.152599 2.02589 0 rs61989361 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.003100 0.000000 0.017900 0.005800 0.007522 0.003320 0.007160 0.013245 0.000000 0.000000 0.011196 0.004871 0.009165 0.013245 233 29 6 4 0 0 168 17 9 30976 8736 838 302 1622 0 15006 3490 982 0.012876 0.034483 0.000000 0.000000 0.000000 0.000000 0.011905 0.000000 0.000000 3 1 0 0 0 0 2 0 0 227 27 6 4 0 0 164 17 9 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion C A C>A 0.000 0.125 255 PASS 0.01 0.02 0.02 0.01 0.02 . 0.005 0.0058 . 0.018 0.0031 . . . . . 0.4642857 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||ANGEL1|mRNA|CODING|NM_015305|) . . . . . . . 0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0050 . . . 0.52 0.05 182 ENSG00000013523 ANGEL1 ANGEL1 . . . . . . 874 0.0134511 64976 849 0.0141533 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61989361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0075 0.0072 0.0132 0 0.0049 0.0112 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs61989361 rs61989361 rs61989361 rs61989361 1 1538 10 1/0 0,255,255 +. 14 77493897 G C - IRF2BPL 14282 Interferon regulatory factor 2 binding protein-like NM_024496.3 -1 4157 2391 NP_078772.1 Q9H1B7 substitution missense exon GRCh37 77493897 77493897 Chr14(GRCh37):g.77493897G>C 239 239 NM_024496.3:c.239C>G p.Thr80Arg p.Thr80Arg 1 611720 "Interferon regulatory factor 2-binding protein 1 & 2, zinc finger" transversion C G C>G 0.992 2.627 T Thr ACA 0.280 R Arg AGA 0.205 80 11 6 Cow -1 -1 -2 0.71 0.65 8.VI 10.V 61 124 71 C0 353.86 0.00 Tolerated 0.08 IV.32 good 9.314E-2 0.2047 255 PASS . . . . . . . . . . . ENSG00000119669:ENST00000238647:exon1:c.C239G:p.T80R IRF2BPL:uc001xsy.4:exon1:c.C239G:p.T80R IRF2BPL:NM_024496:exon1:c.C239G:p.T80R . . 0.5625 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.182 . @ . . . . . 1 0.207 . . 32.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T80R|IRF2BPL|mRNA|CODING|NM_024496|NM_024496.ex.1) . . . . . . . -0.0227 0.047 -0.023 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.402 . . exonic exonic exonic . . 0.395 @ . . . . . . ENSG00000119669 IRF2BPL IRF2BPL . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.238 . . . . D 0.785 0.108 . . 37 . 0.230 . . 0.065 . . . 0.225 0.299 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.112 . . 0 0 0 0 0 0 . 0.548 . . 0.428 . . . . . . 0 0.280 . . . . . 0.603 . 0.385 . HET 0.17 . . . . . . . . . . . . . 13.4212 . ENST00000238647 III.54 III.54 . 0.560000 Q9H1B7 . . Name\x3dnsv902103 . . 0.339 . . III.54 . . . . . . . . . . . . . . . . . . . 0.034 . 1.977 1.977000 . . 0.560000 . . 1.0E-255 0.997 0.399 . 0.471 0.993 . 0.525 . 0.304 1.977 0.493 . . . . . 1 1538 10 1/0 0,255,255 +rs200148812 14 77901758 G A - VIPAS39 20347 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog NM_001193314.1 -1 2969 1482 NP_001180243.1 Q9H9C1 substitution intron GRCh37 77901758 77901758 Chr14(GRCh37):g.77901758G>A 913-22 913-22 NM_001193314.1:c.913-22C>T p.? p.? 14 13 613401 -22 3' 81.7651 6.82565 0.131983 8.46567 81.7651 6.82565 0.131983 8.20658 0 77901757 -6.59893 rs200148812 no no 0 G 0.000000 0 0.001161 0.000704 0.006608 0.003937 0.000687 0.000000 0.000511 0.012821 0.000000 0.012821 26 5 3 1 1 0 6 10 0 22386 7104 454 254 1456 0 11732 780 606 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 0 1 2 2 0 0 0 0 0 0 0 0 0 PASS 35 Genomes transition C T C>T 0.000 -0.279 216 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.0966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.18 182 ENSG00000151445 VIPAS39 VIPAS39 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200148812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0012 0.0066 0.0039 0.0007 0.0128 0.0005 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs200148812 rs200148812 1 1538 10 1.I 0,0,0 +. 14 81676360 C CTA - GTF2A1 4646 General transcription factor IIA, 1, 19/37kDa NM_015859.3 -1 6336 1131 NP_056943.1 P52655 insertion intron GRCh37 81676360 81676361 Chr14(GRCh37):g.81676360_81676361insTA 133-5913 133-5912 NM_015859.3:c.133-5913_133-5912insTA p.? p.? 3 2 600520 -5912 3' 77.5276 7.60956 0.98001 3.88079 77.5276 7.60956 0.98001 3.88079 0 TA 255 Pass . . . . . . . . . . . . . . . . 0.94736844 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 19 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000165417 GTF2A1 GTF2A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,128,255 +rs201778582 14 81676361 A C - GTF2A1 4646 General transcription factor IIA, 1, 19/37kDa NM_015859.3 -1 6336 1131 NP_056943.1 P52655 substitution intron GRCh37 81676361 81676361 Chr14(GRCh37):g.81676361A>C 133-5913 133-5913 NM_015859.3:c.133-5913T>G p.? p.? 3 2 600520 -5913 3' 77.5276 7.60956 0.98001 3.88079 77.5276 7.60956 0.98001 3.88079 0 transversion T G T>G 0.039 1.658 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . 0.3043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.25 182 ENSG00000165417 GTF2A1 GTF2A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 14 81676370 CTTTATCATACAGAATGGTCCCACAAGAAATA C - GTF2A1 4646 General transcription factor IIA, 1, 19/37kDa NM_015859.3 -1 6336 1131 NP_056943.1 P52655 deletion intron GRCh37 81676371 81676401 Chr14(GRCh37):g.81676371_81676401del 133-5953 133-5923 NM_015859.3:c.133-5953_133-5923del p.? p.? 3 2 600520 -5923 3' 77.5276 7.60956 0.98001 3.88079 77.5276 7.60956 0.98001 3.88079 0 Cryptic Acceptor Strongly Activated 81676369 1.41041 0.000908 70.2559 6.03716 0.30082 81.3374 TATTTCTTGTGGGACCATTCTGTATGATAAA 255 Pass . . . . . . . . . . . . . . . . 0.94736844 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 19 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000165417 GTF2A1 GTF2A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,128,255 +. 14 81676402 T G - GTF2A1 4646 General transcription factor IIA, 1, 19/37kDa NM_015859.3 -1 6336 1131 NP_056943.1 P52655 substitution intron GRCh37 81676402 81676402 Chr14(GRCh37):g.81676402T>G 133-5954 133-5954 NM_015859.3:c.133-5954A>C p.? p.? 3 2 600520 -5954 3' 77.5276 7.60956 0.98001 3.88079 77.5276 7.60956 0.98001 3.88079 0 transversion A C A>C 0.012 0.367 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.0934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000165417 GTF2A1 GTF2A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs149777495 14 88962793 G A - PTPN21 9651 Protein tyrosine phosphatase, non-receptor type 21 NM_007039.3 -1 6215 3525 NP_008970.2 Q16825 substitution missense exon GRCh37 88962793 88962793 Chr14(GRCh37):g.88962793G>A 896 896 NM_007039.3:c.896C>T p.Ala299Val p.Ala299Val 10 603271 -37 5' 78.4708 7.52484 0.949875 2.53636 78.4708 7.52484 0.949875 I.59 0 FERM, C-terminal PH-like domain FERM domain Protein-tyrosine phosphatase, non-receptor type-14, -21 rs149777495 yes no Frequency 1 G 0.000000 0 0.000123 0.000000 0.000000 0.000000 0.000000 0.000000 0.000245 0.000116 0.000000 0.000245 34 0 0 0 0 0 31 3 0 277004 24034 34402 10148 18866 30774 126552 25770 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 0 0 0 0 0 31 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 123 transition C T C>T 0.992 4.483 A Ala GCG 0.107 V Val GTG 0.468 299 11 9 Chicken 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 bad 8.12E-6 2.111E-5 255 PASS . . . . . . . . . . . . . PTPN21:NM_007039:exon10:c.C896T:p.A299V . . 0.5263158 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.677 . @ . . . . . 1 0.972 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A299V|PTPN21|mRNA|CODING|NM_007039|NM_007039.ex.10) . 0.0003 0.0005 . 0.0003 0.0005 . 0.6598 0.609 0.660 c . . . . . 1.421e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 6.593e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.830 . . exonic exonic exonic . . 0.555 @ . . . 0.43 0.44 182 ENSG00000070778 PTPN21 PTPN21 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.791 0.112 . . 37 . 0.884 . . 0.883 . . . 0.769 0.448 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.340 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.220 . . . . . 0.870 . 0.804 . HET 0.52 rs149777495 . . . . . . . . . . . . 17.3076 0.0 . IV.56 IV.56 . 0.130000 Q16825 . . Name\x3dnsv456391 0.000308 . 0.827 . . IV.56 0 0.0001 0 0 0 4.489e-05 0.0003 0 0 0 0.0002 0 0 0 0.0006 0.0002 0 . . 0.830 . 2.242 2.242000 . . 0.130000 . . 1.0E-255 1.000 0.715 . 0.544 0.996 . 0.915 . 0.713 2.242 0.917 0.0005 . . rs149777495 rs149777495 1 1538 10 1/0 0,255,255 +rs117705365 14 91068403 G A - TTC7B 19858 Tetratricopeptide repeat domain 7B NM_001010854.1 -1 3434 2532 NP_001010854.1 Q86TV6 substitution intron GRCh37 91068403 91068403 Chr14(GRCh37):g.91068403G>A 1967-8433 1967-8433 NM_001010854.1:c.1967-8433C>T p.? p.? 18 17 -8433 3' 75.5091 4.77558 0.391224 3.98067 75.5091 4.77558 0.391224 3.98067 0 rs117705365 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.001840 0.000573 0.001193 0.000000 0.000000 0.000000 0.003265 0.000000 0.002037 0.003265 57 5 1 0 0 0 49 0 2 30974 8730 838 302 1620 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 5 1 0 0 0 49 0 2 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.028 0.044 255 PASS . 0.0018 0.01 . 0.0026 . 0.001 0.0043 . 0.002 . . . . . . 0.39534885 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||TTC7B|mRNA|CODING|NM_001010854|) . . . . . . . 0.0943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . 0.0010 . . . 0.56 0.64 182 ENSG00000165914 TTC7B TTC7B ENST00000555005:c.*77C>T . . . . . 181 0.00278564 64976 176 0.00293402 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117705365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0018 0.0012 0 0 0 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117705365 rs117705365 1 1538 10 1/0 0,255,255 +rs374046666 14 91805815 G A - CCDC88C 19967 Coiled-coil domain containing 88C NM_001080414.3 -1 7543 6087 NP_001073883.2 Q9P219 substitution intron GRCh37 91805815 91805815 Chr14(GRCh37):g.91805815G>A 625-9 625-9 NM_001080414.3:c.625-9C>T p.? p.? 8 7 611204 -9 3' 73.273 8.08651 0.71697 7.08858 75.9848 8.83835 0.795809 7.62674 0.0799819 Cryptic Acceptor Strongly Activated 91805806 8.08651 0.71697 73.273 8.83835 0.795809 75.9848 rs374046666 yes no Frequency 1 G 0.000000 0 0.000039 0.000000 0.000000 0.000000 0.000060 0.000000 0.000077 0.000000 0.000000 0.000077 9 0 0 0 1 0 8 0 0 232660 14388 32666 9308 16802 29264 104436 20554 5242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 0 1 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes 8490 4236 12726 4 0 4 0.000470921 0 0.000314218 0.000470921 0 0.000314218 41 transition C T C>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.48076922 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||CCDC88C|mRNA|CODING|NM_001080414|) . 0.0003 0.0005 . 0.0003 0.0005 . 0.1781 . . . . . . . . 4.766e-05 . . . 0 8.609e-05 0 0 0 0.0002 0 0 0 6.189e-05 0 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.1 182 ENSG00000015133 CCDC88C CCDC88C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374046666 . . . . . . . . . . . . . . . . . . . . 0 0 Name\x3dnsv817642 0.000314 . . . . . 0 3.868e-05 0 0 5.952e-05 0 7.66e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs374046666 rs374046666 1 1538 10 1/0 0,255,255 +. 14 93282872 T TCTTCGCTTCGCTTCG - GOLGA5 4428 Golgin A5 NM_005113.3 1 2969 2196 NP_005104.3 Q8TBA6 duplication intron GRCh37 93282891 93282892 Chr14(GRCh37):g.93282877_93282891dup 1491+111 1491+125 NM_005113.3:c.1491+111_1491+125dup p.? p.? 7 7 606918 125 5' 94.6711 X.63 0.993062 7.96998 94.6711 X.63 0.993062 7.96998 0 0.006693 0.001048 0.001217 0.000000 0.001267 0.000000 0.006838 0.022793 0.012448 0.022793 204 9 1 0 2 0 101 79 12 30480 8584 822 296 1578 0 14770 3466 964 0.004902 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.012658 0.000000 1 0 0 0 0 0 0 1 0 55 55 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes GCTTCGCTTCGCTTC 255 Pass . . . . . . . . . . . . . . . . 0.3 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 40 . . INTRON(MODIFIER||||GOLGA5|mRNA|CODING|NM_005113|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000066455 GOLGA5 GOLGA5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522417 . . . . . . . . . . . . . . . 0.0010 0.0067 0.0012 0 0.0013 0.0228 0.0068 0.0124 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,52 +rs148334181 14 95109890 T A - SERPINA13P 30909 Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene NR_015340.1 1 1718 0 substitution exon GRCh37 95109890 95109890 Chr14(GRCh37):g.95109890T>A 927 927 NR_015340.1:n.927T>A 3 85 3' 80.4717 9.55417 0.924331 9.68258 80.4717 9.55417 0.924331 9.68258 0 New Acceptor Site 95109892 0.977692 0.00029 62.2031 rs148334181 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000399 0.000084 0.000437 0.000099 0.000000 0.000000 0.000667 0.000062 0.000472 0.000667 106 2 15 1 0 0 84 1 3 265818 23700 34322 10108 18662 30734 125874 16056 6362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 2 15 1 0 0 84 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 80 transversion T A T>A 0.969 0.286 255 PASS . . . . . . 0.0004 0.0014 . 0.001 . . SERPINA13P:uc001ydt.3:exon3:c.T839A:p.M280K . . . 0.4957265 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 117.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caT/caA|H309Q|SERPINA13P|Non-coding_transcript|NON_CODING|NR_015340|NR_015340.ex.3) . 0.0004 0.0006 . 0.0004 0.0006 . 0.1974 . . . . . . . . 3.675e-04 . . . 0.0002 0.0004 0.0004 0 0 0.0007 0 0 0.0002 0.0004 0.0003 0 0.0002 0.0006 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0004 . . . 0.38 0.26 182 ENSG00000187483 SERPINA13P SERPINA13P . . . . . . 31 0.000477099 64976 29 0.000483446 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs148334181 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 0.0001 0.0004 0.0004 0.0001 0 7.959e-05 0.0007 0.0006 0 0 0.0002 0.0012 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs148334181 rs148334181 1 1538 10 1/0 0,252,255 +rs201777442 14 96671255 C A - BDKRB2 1030 Bradykinin receptor B2 NM_000623.3 1 4197 1176 NP_000614.1 P30411 substitution 5'UTR GRCh37 96671255 96671255 Chr14(GRCh37):g.96671255C>A -76 -76 NM_000623.3:c.-76C>A p.? p.? 1 113503 -42 5' 85.2503 8.22968 0.847089 9.93908 85.2503 8.22968 0.847089 10.0324 0 rs201777442 yes no Frequency/1000G 2 C 0.000000 0 0.000924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000444 0.007404 0.003064 0.007404 48 0 0 0 0 0 11 32 5 51954 9752 4802 1284 2322 3040 24800 4322 1632 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000463 0.000000 1 0 0 0 0 0 0 1 0 46 0 0 0 0 0 11 30 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -0.037 255 PASS . . . . . . . . . . . . BDKRB2:uc010avl.2:exon1:c.C99A:p.T33T . . . 0.55737704 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . UTR_5_PRIME(MODIFIER||||BDKRB2|mRNA|CODING|NM_000623|NM_000623.ex.1) . . . . . . . 0.7388 . . . . . . . . 1.425e-04 . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . UTR5 exonic UTR5 . . . 0.0004 . . . 0.53 0.64 182 . BDKRB2 BDKRB2 . . NM_000623:c.-32190C>A . . . 41 0.000631002 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201777442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0.0097 0 0.0015 0 0 0.0013 0 0 0 0.0069 0.0007 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201777442 rs201777442 1 1538 10 1/0 0,255,255 +rs140482892 14 96730262 C G - BDKRB1 1029 Bradykinin receptor B1 NM_000710.3 1 1301 1062 NP_000701.2 P46663 substitution synonymous exon GRCh37 96730262 96730262 Chr14(GRCh37):g.96730262C>G 243 243 NM_000710.3:c.243C>G p.Ala81= p.Ala81Ala 3 600337 253 3' 93.7876 XI.71 0.969302 XII.86 93.7876 XI.71 0.969302 XII.86 0 Cryptic Acceptor Strongly Activated 96730261 II.65 0.000658 64.7656 3.23057 0.000729 64.7656 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs140482892 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.001919 0.000208 0.000145 0.001084 0.000000 0.001884 0.002857 0.003063 0.001856 0.003063 532 5 5 11 0 58 362 79 12 277226 24038 34420 10152 18868 30778 126714 25792 6464 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 524 5 5 11 0 58 354 79 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4405 12992 13 1 14 0.00151163 0.000226963 0.00107643 0.00151163 0.000226963 0.00107643 80 transversion C G C>G 0.110 -1.570 A Ala GCC 0.403 A Ala GCG 0.107 81 255 PASS . . . . . . 0.0004 . . . 0.002 . . BDKRB1:NM_000710:exon3:c.C243G:p.A81A . . 0.44444445 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcG|A81|BDKRB1|mRNA|CODING|NM_000710|NM_000710.ex.3) 0.0002 0.0011 0.0015 0.0002 0.0011 0.0015 . -0.0357 . . . . . . . . 2.099e-03 . . . 0.0004 0.0016 0 0 0.0032 0.0024 0.0014 0.0019 0.0004 0.0019 0 0 0.0032 0.0026 0 0.0020 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.39 0.41 182 ENSG00000100739 BDKRB1 BDKRB1 . . . . . . 69 0.00106193 64976 67 0.00111693 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140482892 . . . . . . . . . . . . . . . . . . . . . . . 0.001076 . . . . . 0.0002 0.0017 0.0001 0.0010 0 0.0031 0.0024 0.0013 0.0019 0.0002 0.0034 0 0.0033 0 0.0026 0.0059 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0015 . . rs140482892 rs140482892 1 1538 10 1/0 0,245,255 +rs117507139 14 96798840 C T - ATG2B 20187 Autophagy related 2B NM_018036.6 -1 13215 6237 NP_060506.5 Q96BY7 substitution missense exon GRCh37 96798840 96798840 Chr14(GRCh37):g.96798840C>T 1360 1360 NM_018036.6:c.1360G>A p.Val454Met p.Val454Met 9 616226 -3 5' 71.2639 3.85536 0.326252 0 74.0119 5.39115 0.672374 0 0.499272 Cryptic Donor Strongly Activated 96798838 3.85536 0.326252 71.2639 5.39115 0.672374 74.0119 rs117507139 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.006000 0.001400 0.005954 0.000626 0.001030 0.010521 0.000000 0.001060 0.008186 0.015026 0.005807 0.015026 1630 15 35 103 0 32 1025 383 37 273764 23954 33992 9790 18780 30178 125208 25490 6372 0.000073 0.000000 0.000000 0.000204 0.000000 0.000000 0.000096 0.000235 0.000000 10 0 0 1 0 0 6 3 0 1610 15 35 101 0 32 1013 377 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8103 3599 11702 51 5 56 0.0062546 0.00138735 0.00476271 0.0062546 0.00138735 0.00476271 131 COSM3690272 Large intestine 0.000448 2231 transition G A G>A 1.000 1.981 V Val GTG 0.468 M Met ATG 1.000 454 13 7 Chicken 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.21 IV.32 255 PASS . 0.0041 0.0028 . 0.01 . 0.0016 0.0014 . 0.006 0.001 ENSG00000066739:ENST00000359933:exon9:c.G1360A:p.V454M ATG2B:uc001yfi.3:exon9:c.G1360A:p.V454M ATG2B:NM_018036:exon9:c.G1360A:p.V454M . . 0.45454547 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.616 . @ . . . . . 1 0.357 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V454M|ATG2B|mRNA|CODING|NM_018036|NM_018036.ex.9) 0.0014 0.0048 0.0063 0.0014 0.0048 0.0063 . -0.1115 0.095 -0.112 c . . . . . 6.378e-03 . . . 0.0007 0.0042 0.0011 0 0.0147 0.0065 0.0029 0.0013 0.0007 0.0061 0.0012 0 0.0138 0.0094 0.0029 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.110 . . exonic exonic exonic . . 0.702 0.0016 . . . 0.72 0.32 182 ENSG00000066739 ATG2B ATG2B . . . 0.999 0.384 . 431 0.00663322 64976 423 0.00705165 59986 Uncertain_significance . 0 . 0.041 . . . . . . . . . 37 . 0.069 . . 0.128 . . . 0.274 0.353 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.261 . . 0.208 . . . . . . 0 0.228 . . . . . 0.439 . 0.453 . HET 0.23 rs117507139 . . . . . . ID\x3dCOSM3690272\x3bOCCURENCE\x3d1(large_intestine) 0.004120879120879121 0.0 0.0027624309392265192 0.0 0.010554089709762533 X.54 0.001032 ENST00000359933 6.VI V.15 . 0.220000 Q96BY7 0.0024 0.09 . 0.004763 . 0.694 . . V.15 0.0008 0.0058 0.0011 0.0106 0 0.0150 0.0080 0.0050 0.0011 0.0003 0.0069 0 0.0066 0 0.0155 0.0097 0.0102 . . 0.465 . 1.514 1.514000 . . 0.220000 . . 1.0E-255 1.000 0.715 . 0.587 1.000 . 0.594 . 0.490 1.514 0.871 0.01 . . rs117507139 rs117507139 1 1538 10 1/0 0,255,255 +rs147149937 14 101302678 G T - MEG3 14575 Maternally expressed 3 (non-protein coding) NR_046473.1 1 9689 0 substitution intron GRCh37 101302678 101302678 Chr14(GRCh37):g.101302678G>T 1183+41 1183+41 NR_046473.1:n.1183+41G>T p.? p.? 5 5 605636 41 5' 83.6222 7.93332 0.970423 0.945125 83.6222 7.93332 0.970423 0.883757 0 rs147149937 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000800 0.000000 0.000000 0.004000 0.000000 0.004095 0.001214 0.002224 0.000000 0.000089 0.000093 0.007406 0.006853 0.003709 0.007406 662 18 52 0 1 2 501 71 17 161648 14828 23386 8252 11174 21412 67652 10360 4584 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 3 0 0 0 0 0 3 0 0 656 18 52 0 1 2 495 71 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 -1.570 255 PASS . 0.0014 . . 0.004 0.0008 0.001 . . 0.004 . . . . . . 0.47524753 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . -0.3158 . . . . . . . . 1.996e-03 . . . 0 0.0012 0 0 0 0.0039 0.0076 0 0 0.0013 0 0 0.0032 0.0034 0.0118 0 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0010 . . . 0.14 0.2 182 . MEG3 MEG3 . . . . . . 228 0.00350899 64976 223 0.00371753 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147149937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0031 0.0022 0 0 0.0060 0.0057 0.0017 9.341e-05 0.0013 0.0082 0.0036 0 0.0006 0.0086 0.0133 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs147149937 rs147149937 1 1538 10 1/0 0,255,255 +rs148718670 14 103574815 G A - EXOC3L4 20120 Exocyst complex component 3-like 4 NM_001077594.1 1 2581 2169 NP_001071062.1 Q17RC7 substitution missense exon GRCh37 103574815 103574815 Chr14(GRCh37):g.103574815G>A 1937 1937 NM_001077594.1:c.1937G>A p.Arg646Gln p.Arg646Gln 10 -40 5' 85.464 6.99123 0.991182 7.57709 85.464 6.99123 0.991182 7.19931 0 Exocyst complex component Sec6 rs148718670 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.004000 0.002900 0.003737 0.000583 0.001454 0.005722 0.000053 0.002566 0.004954 0.006940 0.004186 0.006940 1035 14 50 58 1 79 627 179 27 276992 24002 34398 10136 18858 30782 126574 25792 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 1033 14 50 58 1 77 627 179 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8568 4403 12971 32 3 35 0.00372093 0.00068089 0.00269107 0.00372093 0.00068089 0.00269107 184 transition G A G>A 0.000 -0.037 R Arg CGG 0.207 Q Gln CAG 0.744 646 11 6 Dog 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 165.62 0.00 Tolerated 0.48 II.60 good 9.738E-1 0.5035 255 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0029 . 0.004 0.001 ENSG00000205436:ENST00000380069:exon10:c.G1937A:p.R646Q EXOC3L4:uc001ymk.3:exon10:c.G1937A:p.R646Q EXOC3L4:NM_001077594:exon10:c.G1937A:p.R646Q . . 0.49122807 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.309 . @ . . . . . 1 0.473 . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R646Q|EXOC3L4|mRNA|CODING|NM_001077594|NM_001077594.ex.10) 0.0007 0.0027 0.0037 0.0007 0.0027 0.0037 . -0.4722 -0.633 -0.472 c . . . . . 3.607e-03 . . . 0.0004 0.0035 0.0015 0.0002 0.0066 0.0052 0.0014 0.0027 0.0006 0.0035 0.0014 0.0001 0.0067 0.0048 0.0014 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.132 0.0014 . . . 0.32 0.49 182 ENSG00000205436 EXOC3L4 EXOC3L4 . . . 1.000 0.747 . 228 0.00350899 64976 221 0.00368419 59986 Likely_benign . 0 . 0.105 . . . . T 0.471 0.024 . . 37 . 0.042 . . 0.335 . . . 0.622 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.483 . . 0.343 . . . . . . 0 0.129 . . . . . 0.195 . 0.270 . HET 0.3 rs148718670 . . . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 6.1688 2.68E-4 ENST00000380069 IV.14 -0.0279 . 0.080000 Q17RC7 . . . 0.002691 . 0.097 . . . 0.0006 0.0037 0.0014 0.0056 5.798e-05 0.0070 0.0047 0.0042 0.0026 0.0006 0.0044 0.0036 0.0099 0 0.0066 0.0066 0.0041 . . 0.351 . 0.067 0.067000 . . 0.080000 . . 1.0E-255 0.000 0.063 . 0.385 0.658 . 0.052 . 0.530 0.067 0.069 0.01 . . rs148718670 rs148718670 1 1538 10 1/0 0,254,255 +rs183794482 14 104482300 A C - TDRD9 20122 Tudor domain containing 9 NM_153046.2 1 4764 4149 NP_694591.2 Q8NDG6 substitution intron GRCh37 104482300 104482300 Chr14(GRCh37):g.104482300A>C 2224-18 2224-18 NM_153046.2:c.2224-18A>C p.? p.? 22 21 -18 3' 96.299 X.69 0.948333 7.69042 96.299 X.52 0.969443 9.18773 0.0193899 rs183794482 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002874 0.000594 0.002506 0.002947 0.000000 0.000378 0.004892 0.001698 0.003413 0.004892 586 11 66 26 0 9 419 37 18 203924 18524 26334 8824 13748 23784 85648 21788 5274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 586 11 66 26 0 9 419 37 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4399 12948 35 5 40 0.00407735 0.00113533 0.00307977 0.00407735 0.00113533 0.00307977 44 transversion A C A>C 0.000 0.448 255 PASS . 0.0027 0.01 . 0.01 . 0.0016 0.0043 . 0.005 . . . . . . 0.7619048 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . INTRON(MODIFIER||||TDRD9|mRNA|CODING|NM_153046|) 0.0011 0.0031 0.0041 0.0011 0.0031 0.0041 . 0.1534 . . . . . . . . 2.187e-03 . . . 0.0012 0.0050 0.0129 0 0.01 0.0091 0 0.0004 0.0016 0.0041 0.0167 0 0.0016 0.0091 0 0.0004 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.17 0.24 182 ENSG00000156414 TDRD9 TDRD9 . . . . . . 200 0.00307806 64976 192 0.00320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs183794482 . . . . . . . . . . . . . . . . . . . . . . . 0.003080 . . . . . 0.0007 0.0028 0.0025 0.0028 0 0.0019 0.0048 0.0028 0.0004 0.0005 0.0032 0.0036 0.0066 0 0.0009 0.0055 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs183794482 rs183794482 1 1538 10 1/0 0,255,255 +rs117488690 14 104624316 G A - KIF26A 20226 Kinesin family member 26A NM_015656.1 1 6757 5649 NP_056471.1 Q9ULI4 substitution intron GRCh37 104624316 104624316 Chr14(GRCh37):g.104624316G>A 923+37 923+37 NM_015656.1:c.923+37G>A p.? p.? 4 4 613231 37 5' 89.5197 9.78772 0.998919 XII.81 89.5197 9.78772 0.998919 XII.33 0 rs117488690 yes no Frequency/1000G 2 G 0.000000 0 0.005791 0.003000 0.004100 0.000000 0.013900 0.010100 0.009593 0.003582 0.010297 0.013615 0.000094 0.008374 0.013646 0.004314 0.011236 0.013646 1456 63 154 29 1 90 1000 83 36 151776 17590 14956 2130 10626 10748 73284 19238 3204 0.000250 0.000114 0.000401 0.000000 0.000000 0.000372 0.000355 0.000000 0.000000 19 1 3 0 0 2 13 0 0 1418 61 148 29 1 86 974 83 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8049 3673 11722 95 15 110 0.011665 0.00406725 0.00929682 0.011665 0.00406725 0.00929682 10 transition G A G>A 0.000 -1.893 255 PASS . 0.01 0.01 . 0.01 0.003 0.0058 0.01 . 0.014 0.0041 . . . . . 0.36363637 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||KIF26A|mRNA|CODING|NM_015656|) 0.0041 0.0093 0.012 0.0041 0.0093 0.012 . 0.2497 . . . . . . . . 9.436e-03 . . . 0.0034 0.0117 0.0136 0 0.0038 0.0168 0.0164 0.0074 0.0036 0.0106 0.0135 0 0.0042 0.0139 0.0119 0.0075 . . . . . . intronic intronic intronic . . . 0.0058 . . . 0.22 0.42 182 ENSG00000066735 KIF26A KIF26A . . . . . . 738 0.011358 64976 710 0.0118361 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117488690 . . . . . . . . . . . . . . . . . . . . . . . 0.009297 . . . . . 0.0033 0.0097 0.0104 0.0148 0 0.0046 0.0135 0.0103 0.0084 0.0039 0.0091 0.0084 0.0066 0.0006 0.0032 0.0143 0.0133 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs117488690 rs117488690 1 1538 10 1/0 0,255,255 +rs138014749 14 105054273 G A - C14orf180 33795 Chromosome 14 open reading frame 180 NM_001286399.1 1 1839 534 NP_001273328.1 substitution intron GRCh37 105054273 105054273 Chr14(GRCh37):g.105054273G>A 241+58 241+58 NM_001286399.1:c.241+58G>A p.? p.? 3 3 58 5' 72.8352 4.80041 0.789524 6.55334 72.8352 4.80041 0.789524 6.56693 0 rs138014749 yes no Frequency/1000G 2 G 0.000000 0 0.003395 0.000000 0.002000 0.000000 0.010900 0.005800 0.004855 0.002643 0.003580 0.000000 0.000617 0.000000 0.007017 0.004582 0.002041 0.007017 150 23 3 0 1 0 105 16 2 30898 8702 838 302 1620 0 14964 3492 980 0.006667 0.000000 0.000000 0.000000 0.000000 0.000000 0.009524 0.000000 0.000000 1 0 0 0 0 0 1 0 0 148 23 3 0 1 0 103 16 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.008 0.205 255 PASS . 0.0046 0.01 . 0.01 . 0.0034 0.0058 . 0.011 0.002 . . . . . 0.46 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.2596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0034 . . . 0.2 0.41 182 . C14orf180 C14orf180 . . . . . . 421 0.00647932 64976 404 0.0067349 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs138014749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0049 0.0036 0 0.0006 0.0046 0.0070 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs138014749 rs138014749 1 1538 10 1/0 0,255,255 +rs779751726 14 105359421 C T - CEP170B 20362 Centrosomal protein 170B NM_001112726.2 1 6705 4665 NP_001106197.1 substitution synonymous exon GRCh37 105359421 105359421 Chr14(GRCh37):g.105359421C>T 3987 3987 NM_001112726.2:c.3987C>T p.Ser1329= p.Ser1329Ser 14 -52 5' 86.8044 8.70331 0.911659 13.7702 86.8044 8.70331 0.911659 13.9105 0 transition C T C>T 0.756 -0.682 S Ser TCC 0.220 S Ser TCT 0.185 1329 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . 0.8516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000099814 CEP170B CEP170B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 105412384 T A - AHNAK2 20125 AHNAK nucleoprotein 2 NM_138420.3 -1 18320 17388 NP_612429.2 Q8IVF2 substitution missense exon GRCh37 105412384 105412384 Chr14(GRCh37):g.105412384T>A 9404 9404 NM_138420.3:c.9404A>T p.Asp3135Val p.Asp3135Val 7 608570 8753 3' 89.0379 XI.41 0.940398 13.2033 89.0379 XI.41 0.940398 13.2033 0 Cryptic Acceptor Strongly Activated 105412385 II.05 0.000133 64.1052 2.63992 0.001021 64.1052 transversion A T A>T 0.102 0.770 D Asp GAT 0.461 V Val GTT 0.178 3135 12 2 Olive baboon -3 -3 -6 I.38 0 13 5.IX 54 84 152 C0 353.86 0.00 Deleterious 0.01 IV.32 255 PASS . . . . . . . . . . . ENSG00000185567:ENST00000333244:exon7:c.A9404T:p.D3135V . AHNAK2:NM_138420:exon7:c.A9404T:p.D3135V . . 0.47605634 . . @ 169 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.173 . . 355.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D3135V|AHNAK2|mRNA|CODING|NM_138420|NM_138420.ex.7) . . . . . . . -0.4167 -0.667 -0.417 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.020 . . exonic exonic exonic . . 0.210 @ . . . . . . ENSG00000185567 AHNAK2 AHNAK2 . . . 0.000 0.059 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.072 . . 0.176 . . . 0.674 0.264 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.659 . . 0 0 0 0 0 0 . 0.475 . . 0.449 . . . . . . 0 0.614 . . . . . 0.137 . 0.181 . HET 0.03 . . . . . . . . . . . . . 5.0406 . ENST00000333244 II.53 I.35 . 0.080000 Q8IVF2 . . . . . 0.243 . . . . . . . . . . . . . . . . . . . . . . 0.924 . 0.112 0.112000 . . 0.080000 . . 1.0E-255 0.001 0.137 . 0.062 0.143 . 0.282 . 0.321 0.112 0.899 . . . . . 1 1538 10 1/0 0,203,223 +rs144282233 14 105916565 C T - MTA1 7410 Metastasis associated 1 NM_004689.3 1 2845 2148 NP_004680.2 Q13330 substitution intron GRCh37 105916565 105916565 Chr14(GRCh37):g.105916565C>T 369-33 369-33 NM_004689.3:c.369-33C>T p.? p.? 6 5 603526 -33 3' 94.2422 XII.97 0.984655 12.1415 94.2422 XII.97 0.984655 XII.27 0 Cryptic Acceptor Strongly Activated 105916576 7.63289 0.442367 81.6046 8.48404 0.618016 85.416 rs144282233 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.001000 0.000000 0.006000 0.007200 0.003873 0.000292 0.015098 0.018038 0.000000 0.000749 0.002411 0.000350 0.004037 0.018038 1070 7 519 182 0 23 304 9 26 276284 23962 34376 10090 18848 30726 126114 25728 6440 0.000043 0.000000 0.000233 0.000198 0.000000 0.000000 0.000016 0.000000 0.000000 6 0 4 1 0 0 1 0 0 1058 7 511 180 0 23 302 9 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4402 12975 27 4 31 0.00313953 0.000907853 0.00238352 0.00313953 0.000907853 0.00238352 48 transition C T C>T 0.000 -0.682 255 PASS . 0.0018 0.0028 . 0.004 . 0.0024 0.0072 . 0.006 0.001 . . . . . 0.43650794 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . 0.0009 0.0024 0.0031 0.0009 0.0024 0.0031 . 0.6449 . . . . . . . . 3.578e-03 . . . 0.0004 0.0046 0.0186 0 0.0005 0.0043 0.0014 0.0007 0.0004 0.0038 0.0190 0 0.0003 0.0032 0 0.0007 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.42 0.12 182 ENSG00000182979 MTA1 MTA1 . . . . . . 106 0.00163137 64976 94 0.00156703 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.002384 . . . . . 0.0003 0.0041 0.0152 0.0181 0 0.0003 0.0024 0.0042 0.0007 0.0003 0.0018 0.0119 0.0167 0 0.0009 0.0022 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs144282233 rs144282233 1 1538 10 1/0 0,247,255 +rs587687865 14 106110141 G A - IGHG2 5526 Immunoglobulin heavy constant gamma 2 (G2m marker) ENST00000390545.2 -1 1132 981 ENSP00000374987 P01859 substitution synonymous exon GRCh37 106110141 106110141 Chr14(GRCh37):g.106110141G>A 477 477 ENST00000390545.2:c.477C>T p.Asp159= p.Asp159Asp 3 147110 146 3' 81.1326 6.68205 0.89377 11.0782 81.1326 6.68205 0.89377 11.0782 0 Immunoglobulin C1-set CD80-like, immunoglobulin C2-set Immunoglobulin-like rs587687865 yes no Frequency/1000G 2 0.000200 A 1 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000186 0.000208 0.000291 0.000000 0.000106 0.000033 0.000161 0.000504 0.000000 0.000504 51 5 10 0 2 1 20 13 0 274452 23994 34406 10144 18858 30766 124064 25784 6436 0.000007 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 49 3 10 0 2 1 20 13 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.521 D Asp GAC 0.539 D Asp GAT 0.461 159 218 PASS . . . . . . 0.0002 0.0014 . . . ENSG00000211893:ENST00000390545:exon3:c.C477T:p.D159D . . . . 0.20895523 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 134.0 . . . . . . . . . . -0.4745 . . . . . . . . 1.592e-04 . . . 0.0001 0.0002 0.0002 0 0.0008 0.0002 0 0 0.0001 0.0001 0.0002 0 0.0005 0.0002 0 0 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0002 . . . . . . ENSG00000211893 abParts . . . dist\x3d3572\x3bdist\x3d25773 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0.0003 0 0.0001 0.0005 0.0002 0 3.25e-05 0.0001 0.0002 0 0 0 0.0006 0.0002 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +rs768058032 14 106110177 G C - IGHG2 5526 Immunoglobulin heavy constant gamma 2 (G2m marker) ENST00000390545.2 -1 1132 981 ENSP00000374987 P01859 substitution missense exon GRCh37 106110177 106110177 Chr14(GRCh37):g.106110177G>C 441 441 ENST00000390545.2:c.441C>G p.His147Gln p.His147Gln 3 147110 110 3' 81.1326 6.68205 0.89377 11.0782 81.1326 6.68205 0.89377 11.0782 0 Immunoglobulin C1-set CD80-like, immunoglobulin C2-set Immunoglobulin-like rs768058032 yes no Frequency 1 0.000000 0 0.000168 0.000792 0.000523 0.000394 0.000053 0.000000 0.000016 0.000000 0.000311 0.000792 46 19 18 4 1 0 2 0 2 274310 23992 34404 10144 18862 30766 123930 25784 6428 0.000007 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 44 17 18 4 1 0 2 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 H His CAC 0.587 Q Gln CAG 0.744 147 27 3 Armadillo 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.54 II.43 255 PASS . . . . . . . . . . . ENSG00000211893:ENST00000390545:exon3:c.C441G:p.H147Q . . . . 0.33333334 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 177.0 . . . . . . . . . . -0.4467 . . . . . . . . 1.674e-04 . . . 0.0007 0.0002 0.0010 0 0 7.121e-05 0 0 0.0007 0.0002 0.0010 0 0 3.681e-05 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211893 abParts . . . dist\x3d3608\x3bdist\x3d25737 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0001 0.0005 0.0004 0 0 1.835e-05 0 0 0.0011 0.0005 0.0012 0 0.0006 0 0 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs762769132 14 106110255 G C - IGHG2 5526 Immunoglobulin heavy constant gamma 2 (G2m marker) ENST00000390545.2 -1 1132 981 ENSP00000374987 P01859 substitution synonymous exon GRCh37 106110255 106110255 Chr14(GRCh37):g.106110255G>C 363 363 ENST00000390545.2:c.363C>G p.Leu121= p.Leu121Leu 3 147110 32 3' 81.1326 6.68205 0.89377 11.0782 81.1326 6.68205 0.89377 11.1859 0 Immunoglobulin-like rs762769132 yes no Frequency 1 0.000000 0 0.000204 0.000000 0.000116 0.001183 0.000159 0.000098 0.000250 0.000039 0.000311 0.001183 56 0 4 12 3 3 31 1 2 274266 23992 34406 10144 18860 30764 123890 25780 6430 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 54 0 4 12 3 3 29 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.992 1.497 L Leu CTC 0.197 L Leu CTG 0.404 121 255 PASS . . . . . . . . . . . ENSG00000211893:ENST00000390545:exon3:c.C363G:p.L121L . . . . 0.452459 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 305.0 . . . . . . . . . . 0.8648 . . . . . . . . 2.393e-04 . . . 0 0.0002 8.649e-05 0 0 0.0005 0 6.065e-05 0 0.0002 8.919e-05 0.0001 0 0.0003 0 6.1e-05 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211893 abParts . . . dist\x3d3686\x3bdist\x3d25659 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.16 0 0.0002 0.0001 0.0012 0.0002 4.487e-05 0.0003 0.0004 9.752e-05 0 6.476e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,222 +rs777509204 14 106207899 G C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution downstream GRCh37 106207899 106207899 Chr14(GRCh37):g.106207899G>C *27675 *27675 ENST00000619212.1:c.*27675C>G p.? p.? 8 147100 27998 3' 90.0212 10.337 0.964131 XI.88 90.0212 10.337 0.964131 XI.88 0 rs777509204 yes no Frequency 1 0.000000 0 0.000267 0.000169 0.000029 0.000200 0.000000 0.000032 0.000473 0.000196 0.000319 0.000473 72 4 1 2 0 1 57 5 2 269796 23628 34326 10008 18856 30778 120406 25528 6266 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 4 1 2 0 1 57 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -2.135 189 PASS . . . . . . . . . . . . IGHG1:uc001yse.3:exon5:c.C502G:p.Q168E . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 75.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1413 . . . . . . . . 2.563e-04 . . . 0.0002 0.0002 0.0002 0 0.0003 0.0004 0 6.061e-05 0.0001 0.0002 0.0002 0 0.0003 0.0003 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.3 0.29 182 ENSG00000211896 IGHG1 . . . dist\x3d68755\x3bdist\x3d116394 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.576e-05 8.246e-05 0 0 0 4.485e-05 0.0001 0.0004 3.249e-05 0.0004 0.0019 0.0013 0.0083 0 0.0012 0.0035 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs1063434 rs1063434 rs1063434 rs1063434 1 1538 10 1/0 0,241,255 +rs587765230 14 106236722 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106236722 106236722 Chr14(GRCh37):g.106236722C>T 725-48 725-48 ENST00000619212.1:c.725-48G>A p.? p.? 6 5 147100 -48 3' 90.6451 X.04 0.869402 15.117 90.6451 X.04 0.869402 15.284 0 rs587765230 yes no Frequency/1000G 2 0.002196 T 11 0.002196 0.002300 0.000000 0.007900 0.000000 0.000000 0.000358 0.000510 0.000806 0.000109 0.000137 0.000186 0.000111 0.001278 0.000399 0.001278 83 9 22 1 2 5 12 30 2 231958 17636 27304 9174 14572 26894 107888 23478 5012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 9 22 1 2 5 12 30 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.125 187 PASS . . . . . 0.0023 0.0022 . 0.0079 . . . . . . . 0.23692308 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 325.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4071 . . . . . . . . 7.985e-06 . . . . . . . . . . . 0 9.506e-06 0 0.0001 0 0 0 0 . . . . . . intronic ncRNA_intronic intergenic . . . 0.0022 . . . . . . ENSG00000211897 . . . . dist\x3d97578\x3bdist\x3d87571 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.424e-05 0.0002 0.0007 0 0.0001 0 7.086e-05 0 0.0002 0.0019 0.0029 0.0103 0.0050 0 0.0184 0.0005 0.0041 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,192,255 +rs775538648 14 106236834 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106236834 106236834 Chr14(GRCh37):g.106236834C>T 725-160 725-160 ENST00000619212.1:c.725-160G>A p.? p.? 6 5 147100 -160 3' 90.6451 X.04 0.869402 15.117 90.6451 X.04 0.869402 15.117 0 rs775538648 yes no Frequency 1 0.000000 0 0.000501 0.000163 0.000278 0.001297 0.000056 0.000110 0.000763 0.000340 0.000584 0.001297 118 3 8 11 1 3 81 8 3 235688 18454 28732 8480 17902 27210 106224 23550 5136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 118 3 8 11 1 3 81 8 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.008 -0.279 189 PASS . . . . . . . . . . . UNKNOWN . . . . 0.13268608 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 309.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3631 . . . . . . . . 3.922e-04 . . . 0.0004 0.0003 8.679e-05 0.0002 0.0003 0.0005 0 0.0001 0.0005 0.0002 8.949e-05 0.0001 0.0002 0.0001 0 0.0001 unknown . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211897 abParts . . . dist\x3d97690\x3bdist\x3d87459 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.184e-05 0.0005 0.0003 0.0013 6.015e-05 4.637e-05 0.0008 0.0007 0.0001 0.0004 0.0005 0 0 0 0.0035 0.0001 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,180,255 +rs782626508 14 106320669 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106320669 106320669 Chr14(GRCh37):g.106320669C>T 430+8739 430+8739 ENST00000619212.1:c.430+8739G>A p.? p.? 4 4 147100 8739 5' 94.6711 X.63 0.998716 10.0161 94.6711 X.63 0.998716 10.0161 0 rs782626508 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000117 0.000033 0.000000 0.000000 0.000000 0.000117 3 0 0 0 2 1 0 0 0 241770 14962 33400 9670 17148 30700 108350 22124 5416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 87 Exomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . ENSG00000211899:ENST00000390559:exon4:c.G1141A:p.A381T . . . . 0.53125 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 192.0 . . . . . . . . . . 0.3939 . . . . . . . . 8.007e-06 . . . 0 1.155e-05 0 0.0002 0 0 0 0 0 9.83e-06 0 0.0001 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211899 abParts . . . dist\x3d181525\x3bdist\x3d3624 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.241e-05 0 0 0.0001 0 0 0 3.257e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs782626508 14 106320669 C T - IGHM 5541 Immunoglobulin heavy constant mu ENST00000390559.2 -1 1461 1362 ENSP00000375001 substitution missense exon GRCh37 106320669 106320669 Chr14(GRCh37):g.106320669C>T 1141 1141 ENST00000390559.2:c.1141G>A p.Ala381Thr p.Ala381Thr 4 147020 174 3' 89.4591 9.45311 0.984518 XI.19 89.4591 9.45311 0.984518 XI.19 0 Immunoglobulin C1-set Immunoglobulin Immunoglobulin-like rs782626508 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000117 0.000033 0.000000 0.000000 0.000000 0.000117 3 0 0 0 2 1 0 0 0 241770 14962 33400 9670 17148 30700 108350 22124 5416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 87 Exomes transition G A G>A 0.000 -0.360 A Ala GCC 0.403 T Thr ACC 0.361 381 18 10 Platypus 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 251.13 0.00 Tolerated 0.34 3.III good 4.273E-1 0.2953 255 PASS . . . . . . . . . . . ENSG00000211899:ENST00000390559:exon4:c.G1141A:p.A381T . . . . 0.53125 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 192.0 . . . . . . . . . . 0.3939 . . . . . . . . 8.007e-06 . . . 0 1.155e-05 0 0.0002 0 0 0 0 0 9.83e-06 0 0.0001 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211899 abParts . . . dist\x3d181525\x3bdist\x3d3624 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.241e-05 0 0 0.0001 0 0 0 3.257e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs2338628 14 106329451 G A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution synonymous exon GRCh37 106329451 106329451 Chr14(GRCh37):g.106329451G>A 387 387 ENST00000619212.1:c.387C>T p.Tyr129= p.Tyr129Tyr 4 147100 15 3' 0 0 0 0 0 0 0 0 0 rs2338628 yes no Frequency 1 0.000000 0 0.001092 0.000558 0.001688 0.004828 0.000771 0.000335 0.001210 0.000078 0.000811 0.004828 290 13 55 45 14 10 146 2 5 265624 23298 32582 9320 18164 29888 120664 25542 6166 0.000075 0.000086 0.000184 0.000000 0.000220 0.000067 0.000050 0.000000 0.000000 10 1 3 0 2 1 3 0 0 269 11 49 45 9 8 140 2 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.044 Y Tyr TAC 0.562 Y Tyr TAT 0.438 129 255 PASS . . . . . . . . . . . ENSG00000211900:ENST00000390560:exon1:c.C18T:p.Y6Y . . . . 0.96428573 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . . . . . . . . . -0.0411 . . . . . . . . . . . . 0.0116 0.0453 0.0731 0.0502 0.0408 0.0787 0.0208 0.0274 0.0132 0.0428 0.0795 0.0469 0.0325 0.0621 0.0263 0.0279 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.25 0.41 182 ENSG00000211900 abParts . . . dist\x3d2867\x3bdist\x3d54387 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0012 0.0016 0.0050 0.0008 9.065e-05 0.0013 0.0010 0.0003 0 0.0004 0.0051 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2338628 rs2338628 rs2338628 rs2338628 1 1538 255 1.I 0,0,255 +rs2338627 14 106329452 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution missense exon GRCh37 106329452 106329452 Chr14(GRCh37):g.106329452T>C 386 386 ENST00000619212.1:c.386A>G p.Tyr129Cys p.Tyr129Cys 4 147100 14 3' 0 0 0 0 0 0 0 0 0 rs2338627 yes no Frequency 1 0.000000 0 0.001082 0.000000 0.026316 0.000000 0.000000 0.000000 0.003745 0.000000 0.000000 0.026316 4 0 2 0 0 0 2 0 0 3698 2780 76 14 120 0 534 128 46 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 375 Genomes transition A G A>G 0.000 0.044 Y Tyr TAC 0.562 C Cys TGC 0.552 129 28 5 Amazon molly -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 353.86 0.00 Tolerated 0.16 II.53 255 PASS . . . . . . . . . . . ENSG00000211900:ENST00000390560:exon1:c.A17G:p.Y6C . . . . 0.9634146 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . . . . . . . . . -0.0408 . . . . . . . . . . . . 0.0094 0.0234 0.0243 0.0220 0.0333 0.0435 0.0238 0.0097 0.0108 0.0214 0.0268 0.0215 0.0208 0.0317 0.0312 0.0099 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.26 0.4 182 ENSG00000211900 abParts . . . dist\x3d2868\x3bdist\x3d54386 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 0.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0.0263 0 0 0 0.0037 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2338627 rs2338627 rs2338627 rs2338627 1 1538 255 1.I 0,0,255 +rs2338626 14 106329453 A C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution missense exon GRCh37 106329453 106329453 Chr14(GRCh37):g.106329453A>C 385 385 ENST00000619212.1:c.385T>G p.Tyr129Asp p.Tyr129Asp 4 147100 13 3' 0 0 0 0 0 0 0 0 0 rs2338626 yes no Frequency/HapMap/1000G 3 0.000000 0 0.637780 0.394900 0.794500 0.705400 0.686900 0.710400 0.000360 0.000000 0.004926 0.000000 0.000000 0.000000 0.000473 0.000000 0.000000 0.004926 11 0 4 0 0 0 7 0 0 30576 8618 812 298 1598 0 14798 3480 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion T G T>G 0.008 0.044 Y Tyr TAC 0.562 D Asp GAC 0.539 129 28 5 Amazon molly -2 -3 -6 0.2 I.38 6.II 13 136 54 160 C0 353.86 0.00 Tolerated 0.17 II.53 255 PASS . . . . . 0.39 0.64 0.71 0.71 0.69 0.79 ENSG00000211900:ENST00000390560:exon1:c.T16G:p.Y6D . . . . 0.962963 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . . . . . . . . -0.0381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.3622 . . . 0.22 0.38 182 ENSG00000211900 abParts . . . dist\x3d2869\x3bdist\x3d54385 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 0.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0.0049 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2338626 rs2338626 rs2338626 rs2338626 1 1538 255 1.I 0,0,255 +rs797023012 14 106354497 T G - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106354497 106354497 Chr14(GRCh37):g.106354497T>G 373-25032 373-25032 ENST00000619212.1:c.373-25032A>C p.? p.? 4 3 147100 -25032 3' 0 0 0 0 0 0 0 0 0 rs797023012 no no 0 0.000000 0 transversion A C A>C 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.38650307 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 163.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211912 abParts . . . dist\x3d27913\x3bdist\x3d29341 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs797032357 14 106354498 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106354498 106354498 Chr14(GRCh37):g.106354498C>T 373-25033 373-25033 ENST00000619212.1:c.373-25033G>A p.? p.? 4 3 147100 -25033 3' 0 0 0 0 0 0 0 0 0 rs797032357 no no 0 0.000000 0 transition G A G>A 0.000 -3.023 255 PASS . . . . . . . . . . . . . . . . 0.38509318 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 161.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211912 abParts . . . dist\x3d27914\x3bdist\x3d29340 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs537034100 14 106354499 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106354499 106354499 Chr14(GRCh37):g.106354499T>C 373-25034 373-25034 ENST00000619212.1:c.373-25034A>G p.? p.? 4 3 147100 -25034 3' 0 0 0 0 0 0 0 0 0 rs537034100 yes no Frequency/1000G 2 0.000000 0 0.022564 0.053700 0.015300 0.007900 0.005000 0.020200 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000069 1 0 0 0 0 0 1 0 0 30038 8642 646 284 1602 0 14438 3488 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition A G A>G 0.000 -0.198 255 PASS . . . . . 0.054 0.023 0.02 0.0079 0.005 0.015 . . . . . 0.38607594 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 158.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic intergenic . . . 0.0226 . . . . . . ENSG00000211912 abParts . . . dist\x3d27915\x3bdist\x3d29339 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs537034100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.329e-05 0 0 0 0 6.926e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +rs368549782 14 106385222 G A - FAM30A 19955 Family with sequence similarity 30, member A NR_026800.2 1 9613 0 substitution intron GRCh37 106385222 106385222 Chr14(GRCh37):g.106385222G>A 839+546 839+546 NR_026800.2:n.839+546G>A p.? p.? 1 1 616623 546 5' 76.7393 6.18234 0.202396 5.52157 76.7393 6.18234 0.202396 5.52157 0 rs368549782 no no 0 0.000000 0 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000143 0.000000 0.000000 0.000143 2 0 0 0 0 0 2 0 0 29508 8472 750 260 1606 0 14022 3478 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition G A G>A 0.008 -0.521 250 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||KIAA0125|Non-coding_transcript|NON_CODING|NR_026800|) . . . . . . . -0.5254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226777 abParts KIAA0125 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368549782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.778e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs368549782 rs368549782 1 1538 10 1/0 0,255,255 +rs368549782 14 106385222 G A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106385222 106385222 Chr14(GRCh37):g.106385222G>A 373-55757 373-55757 ENST00000619212.1:c.373-55757C>T p.? p.? 4 3 147100 -55757 3' 0 0 0 0 0 0 0 0 0 rs368549782 no no 0 0.000000 0 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000143 0.000000 0.000000 0.000143 2 0 0 0 0 0 2 0 0 29508 8472 750 260 1606 0 14022 3478 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition C T C>T 0.008 -0.521 250 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||KIAA0125|Non-coding_transcript|NON_CODING|NR_026800|) . . . . . . . -0.5254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226777 abParts KIAA0125 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368549782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.778e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs368549782 rs368549782 1 1538 10 1/0 0,255,255 +rs782631800 14 106452763 C A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452763 106452763 Chr14(GRCh37):g.106452763C>A 372+65616 372+65616 ENST00000619212.1:c.372+65616G>T p.? p.? 3 3 147100 65616 5' 0 0 0 0 0 0 0 0 0 New Donor Site 106452765 1.22927 0.072779 61.409 rs782631800 yes no Frequency 1 0.000000 0 0.000328 0.004154 0.000088 0.000000 0.000000 0.000000 0.000008 0.000039 0.000158 0.004154 88 82 3 0 0 0 1 1 1 268352 19740 34212 10036 18660 30772 123146 25452 6334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 88 82 3 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.480 0.609 182 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.G259T:p.V87F . . . . 0.11643836 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 292.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.1743 . . . . . . . . 1.599e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211934 abParts . . . dist\x3d14405\x3bdist\x3d291506 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.05 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0182 0.0035 0.0045 0 0 0.0003 6.989e-05 0.0011 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,181,255 +rs1061866 14 106452764 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452764 106452764 Chr14(GRCh37):g.106452764C>T 372+65615 372+65615 ENST00000619212.1:c.372+65615G>A p.? p.? 3 3 147100 65615 5' 0 0 0 0 0 0 0 0 0 rs1061866 yes no Frequency 1 0.000000 0 0.000462 0.005868 0.000058 0.000000 0.000000 0.000000 0.000024 0.000039 0.000316 0.005868 124 116 2 0 0 0 3 1 2 268398 19768 34204 10036 18668 30772 123162 25452 6336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 124 116 2 0 0 0 3 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.378 -0.521 183 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.G258A:p.R86R . . . . 0.11971831 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 284.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3133 . . . . . . . . 6.398e-05 . . . 0.0008 8.916e-05 0 0 0 0 0 0 0.0010 7.604e-05 0 0 0 0 0 0 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.19 0.29 182 ENSG00000211934 abParts . . . dist\x3d14406\x3bdist\x3d291505 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 8.638e-05 0 0 0 0 1.837e-05 0.0002 0 0.0216 0.0041 0.0030 0 0 0.0003 6.988e-05 0.0011 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . 0.011 rs1061866 rs1061866 rs1061866 rs1061866 1 1538 10 1/0 0,183,255 +rs781881303 14 106452781 G T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452781 106452781 Chr14(GRCh37):g.106452781G>T 372+65598 372+65598 ENST00000619212.1:c.372+65598C>A p.? p.? 3 3 147100 65598 5' 0 0 0 0 0 0 0 0 0 0.000403 0.005065 0.000088 0.000000 0.000054 0.000000 0.000016 0.000079 0.000158 0.005065 108 99 3 0 1 0 2 2 1 268008 19546 34190 10048 18642 30772 123066 25418 6326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 99 3 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.360 178 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.C241A:p.Q81K . . . . 0.10784314 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 306.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211934 abParts . . . dist\x3d14423\x3bdist\x3d291488 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0230 0.0043 0.0047 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,179,255 +rs782539815 14 106452782 T G - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452782 106452782 Chr14(GRCh37):g.106452782T>G 372+65597 372+65597 ENST00000619212.1:c.372+65597A>C p.? p.? 3 3 147100 65597 5' 0 0 0 0 0 0 0 0 0 0.004427 0.023369 0.004644 0.000000 0.000711 0.000000 0.000141 0.000643 0.001136 0.023369 110 101 3 0 1 0 2 2 1 24846 4322 646 292 1406 0 14188 3112 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 101 3 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 51 Genomes transversion A C A>C 0.000 -1.732 175 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.A240C:p.A80A . . . . 0.10197368 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 304.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211934 abParts . . . dist\x3d14424\x3bdist\x3d291487 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0234 0.0044 0.0046 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,178,255 +rs529388279 14 106452789 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452789 106452789 Chr14(GRCh37):g.106452789T>C 372+65590 372+65590 ENST00000619212.1:c.372+65590A>G p.? p.? 3 3 147100 65590 5' 0 0 0 0 0 0 0 0 0 rs529388279 yes no Frequency/1000G 2 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000433 0.005443 0.000117 0.000000 0.000054 0.000000 0.000016 0.000079 0.000158 0.005443 116 106 4 0 1 0 2 2 1 267862 19476 34188 10054 18630 30774 123012 25406 6322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 114 104 4 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.279 176 PASS . . . . . 0.0023 0.0006 . . . . ENSG00000211934:ENST00000390594:exon2:c.A233G:p.N78S . . . . 0.104377106 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 297.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2843 . . . . . . . . 3.200e-05 . . . 0.0003 3.342e-05 0 0 0 0 0 0 0.0004 2.85e-05 0 0 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0006 . . . . . . ENSG00000211934 abParts . . . dist\x3d14431\x3bdist\x3d291480 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 8.226e-06 0 0 0 0 0 0 0 0.0245 0.0046 0.0062 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +rs186314384 14 106452793 T G - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452793 106452793 Chr14(GRCh37):g.106452793T>G 372+65586 372+65586 ENST00000619212.1:c.372+65586A>C p.? p.? 3 3 147100 65586 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 106452778 0.000139 67.2755 1.26034 0.001401 67.2755 rs186314384 yes no Frequency/1000G 2 0.000000 0 0.000444 0.005586 0.000117 0.000000 0.000054 0.000000 0.000016 0.000079 0.000158 0.005586 119 109 4 0 1 0 2 2 1 267940 19512 34182 10054 18632 30774 123052 25410 6324 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 109 4 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.286 175 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.A229C:p.T77P . . . . 0.103559874 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 309.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0507 . . . . . . . . 1.601e-05 . . . 0.0001 2.228e-05 8.655e-05 0 0 0 0 0 0.0001 1.9e-05 8.925e-05 0 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0006 . . . 0.22 0.25 182 ENSG00000211934 abParts . . . dist\x3d14435\x3bdist\x3d291476 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0255 0.0048 0.0063 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,178,255 +rs567161886 14 106452796 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452796 106452796 Chr14(GRCh37):g.106452796C>T 372+65583 372+65583 ENST00000619212.1:c.372+65583G>A p.? p.? 3 3 147100 65583 5' 0 0 0 0 0 0 0 0 0 rs567161886 yes no Frequency/1000G 2 0.000399 T 2 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000414 0.005202 0.000117 0.000000 0.000054 0.000000 0.000016 0.000079 0.000158 0.005202 111 101 4 0 1 0 2 2 1 267816 19416 34192 10054 18628 30774 123020 25410 6322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 101 4 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.570 176 PASS . . . . . 0.0015 0.0004 . . . . ENSG00000211934:ENST00000390594:exon2:c.G226A:p.G76S . . . . 0.10443038 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 316.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4912 . . . . . . . . 2.401e-05 . . . 0.0002 3.341e-05 0 0 0 2.385e-05 0 0 0.0002 2.85e-05 0 0 0 1.847e-05 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0004 . . . . . . ENSG00000211934 abParts . . . dist\x3d14438\x3bdist\x3d291473 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.564e-05 4.112e-06 0 0 0 0 0 0 0 0.0239 0.0045 0.0063 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,255 +rs575101293 14 106452804 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452804 106452804 Chr14(GRCh37):g.106452804T>C 372+65575 372+65575 ENST00000619212.1:c.372+65575A>G p.? p.? 3 3 147100 65575 5' 0 0 0 0 0 0 0 0 0 rs575101293 yes no Frequency/1000G 2 0.000399 C 2 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000399 0.004824 0.000117 0.000199 0.000000 0.000000 0.000032 0.000118 0.000000 0.004824 107 94 4 2 0 0 4 3 0 268002 19484 34196 10056 18630 30776 123104 25434 6322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 107 94 4 2 0 0 4 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.150 0.770 178 PASS . . . . . 0.0008 0.0004 . . 0.001 . ENSG00000211934:ENST00000390594:exon2:c.A218G:p.N73S . . . . 0.107744105 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 297.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0497 . . . . . . . . 6.404e-05 . . . 0.0001 8.909e-05 8.655e-05 0 0 0.0001 0 0 0.0001 7.599e-05 8.925e-05 0 0 0.0001 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0004 . . . . . . ENSG00000211934 abParts . . . dist\x3d14446\x3bdist\x3d291465 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.645e-05 0 0.0002 0 0 1.837e-05 0 0 0.0221 0.0041 0.0062 0 0 0.0010 0.0001 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +rs539430423 14 106452805 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452805 106452805 Chr14(GRCh37):g.106452805T>C 372+65574 372+65574 ENST00000619212.1:c.372+65574A>G p.? p.? 3 3 147100 65574 5' 0 0 0 0 0 0 0 0 0 rs539430423 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000385 0.004692 0.000117 0.000099 0.000000 0.000000 0.000041 0.000079 0.000000 0.004692 103 91 4 1 0 0 5 2 0 267844 19396 34196 10052 18612 30776 123056 25440 6316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 91 4 1 0 0 5 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.512 0.448 178 PASS . . . . . . 0.0004 . . 0.002 . ENSG00000211934:ENST00000390594:exon2:c.A217G:p.N73D . . . . 0.10958904 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 292.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3289 . . . . . . . . 8.004e-05 . . . 0 0.0001 8.655e-05 0 0 0.0002 0 0 0 8.549e-05 8.925e-05 0 0 0.0001 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0004 . . . . . . ENSG00000211934 abParts . . . dist\x3d14447\x3bdist\x3d291464 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.056e-05 2.98e-05 0.0001 0 0 2.756e-05 0 0 0.0219 0.0040 0.0047 0 0 0.0006 0.0001 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,181,255 +rs4042977 14 106691818 G T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106691818 106691818 Chr14(GRCh37):g.106691818G>T -23785 -23785 ENST00000619212.1:c.-23785C>A p.? p.? 1 147100 -23831 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 rs4042977 yes no Frequency 1 T 0.000000 0 0.000101 0.000000 0.000030 0.000000 0.000162 0.000402 0.000074 0.000040 0.000161 0.000402 27 0 1 0 3 12 9 1 1 268206 23804 33606 9882 18518 29844 121116 25212 6224 0.000007 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 25 0 1 0 3 10 9 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -3.588 182 PASS . . . . . . . . . . . ENSG00000211947:ENST00000390607:exon2:c.C206A:p.S69Y . . . . 0.11764706 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 187.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0384 . . . . . . . . 5.060e-03 . . . 0.0011 0.0052 0.0036 0.0089 0.0026 0.0055 0.0014 0.0076 0.0012 0.0046 0.0036 0.0069 0.0020 0.0044 0.0029 0.0077 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.19 0.29 182 ENSG00000211947 abParts . . . dist\x3d253460\x3bdist\x3d52451 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 rs4042977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.214e-05 3.047e-05 0 5.899e-05 0 6.538e-05 0.0002 0.0004 0 0.0002 0 0 0.0013 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs4042977 rs4042977 rs4042977 rs4042977 1 1538 10 1/0 0,201,255 +rs80323191 14 106780761 C G - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106780761 106780761 Chr14(GRCh37):g.106780761C>G -112728 -112728 ENST00000619212.1:c.-112728G>C p.? p.? 1 147100 -112774 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 rs80323191 yes no Frequency/1000G 2 C 0.000000 0 0.037141 0.006800 0.020400 0.000000 0.104400 0.074900 transversion G C G>C 0.000 -1.489 255 PASS . . . . . 0.0068 0.037 0.075 . 0.1 0.02 ENSG00000211952:ENST00000390612:exon2:c.G103C:p.D35H . . . . 0.5090909 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 165.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0371 . . . 0.11 0.12 182 ENSG00000211952 abParts . . . dist\x3d35795\x3bdist\x3d157684 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80323191 rs80323191 1 1538 10 1/0 0,245,255 +rs76796134 14 106780762 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106780762 106780762 Chr14(GRCh37):g.106780762C>T -112729 -112729 ENST00000619212.1:c.-112729G>A p.? p.? 1 147100 -112775 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 rs76796134 yes no Frequency/1000G 2 C 0.000000 0 0.037141 0.006800 0.020400 0.000000 0.104400 0.074900 0.000012 0.000000 0.000000 0.000000 0.000000 0.000034 0.000017 0.000000 0.000000 0.000034 3 0 0 0 0 1 2 0 0 259894 22616 32998 9822 18388 29640 117808 22558 6064 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.005 255 PASS . . . . . 0.0068 0.037 0.075 . 0.1 0.02 ENSG00000211952:ENST00000390612:exon2:c.G102A:p.S34S . . . . 0.5 . . @ 80 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 160.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4835 . . . . . . . . 9.932e-06 . . . 0 1.365e-05 0 0 0 3.18e-05 0 0 . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0371 . . . 0.14 0.14 182 ENSG00000211952 abParts . . . dist\x3d35796\x3bdist\x3d157683 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.615e-06 0 0 0 0 9.574e-06 0 3.374e-05 0 3.606e-05 0 0 0 0 7.487e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76796134 rs76796134 1 1538 10 1/0 0,246,255 +rs774758130 14 106791044 G A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106791044 106791044 Chr14(GRCh37):g.106791044G>A -123011 -123011 ENST00000619212.1:c.-123011C>T p.? p.? 1 147100 -123057 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 Cryptic Acceptor Strongly Activated 106791044 1.33617 8.9e-05 62.2048 1.56771 0.000141 61.719 rs774758130 yes no Frequency 1 0.000000 0 0.000026 0.000000 0.000000 0.000000 0.000054 0.000000 0.000040 0.000039 0.000000 0.000054 7 0 0 0 1 0 5 1 0 273030 23726 34262 10016 18616 30698 123680 25634 6398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 1 0 5 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 0.044 185 PASS . . . . . . . . . . . ENSG00000211953:ENST00000390613:exon2:c.C312T:p.S104S . . . . 0.123595506 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2531 . . . . . . . . 1.036e-04 . . . 0 5.583e-05 8.679e-05 0.0002 0 4.777e-05 0 6.086e-05 0 3.807e-05 8.945e-05 0.0001 0 1.848e-05 0 6.121e-05 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211953 abParts . . . dist\x3d46078\x3bdist\x3d147401 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.649e-05 0 0 0 0 3.675e-05 0 0 0 9.852e-05 0 0 0.0006 0.0003 6.742e-05 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs529206613 14 106791048 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106791048 106791048 Chr14(GRCh37):g.106791048T>C -123015 -123015 ENST00000619212.1:c.-123015A>G p.? p.? 1 147100 -123061 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 rs529206613 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000040 0.000042 0.000000 0.000100 0.000107 0.000033 0.000040 0.000039 0.000000 0.000107 11 1 0 1 2 1 5 1 0 273072 23708 34260 10024 18616 30704 123696 25664 6400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 0 1 2 1 5 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.976 -0.360 190 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000211953:ENST00000390613:exon2:c.A308G:p.N103S . . . . 0.13483146 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4226 . . . . . . . . 1.354e-04 . . . 0.0001 0.0001 8.679e-05 0.0002 0 0.0001 0 6.085e-05 0.0001 5.71e-05 8.945e-05 0.0001 0 3.696e-05 0 6.12e-05 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0002 . . . . . . ENSG00000211953 abParts . . . dist\x3d46082\x3bdist\x3d147397 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.586e-05 3.297e-05 0 0.0001 5.86e-05 0 3.674e-05 0 3.257e-05 0 9.854e-05 0 0 0.0006 0.0003 6.742e-05 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +rs751077281 14 106791056 C A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106791056 106791056 Chr14(GRCh37):g.106791056C>A -123023 -123023 ENST00000619212.1:c.-123023G>T p.? p.? 1 147100 -123069 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 Cryptic Acceptor Strongly Activated 106791044 1.33617 8.9e-05 62.2048 2.74713 0.000489 68.2008 rs751077281 yes no Frequency 1 0.000000 0 0.000051 0.000212 0.000029 0.000000 0.000054 0.000033 0.000032 0.000039 0.000156 0.000212 14 5 1 0 1 1 4 1 1 272910 23550 34230 10032 18612 30698 123692 25700 6396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 5 1 0 1 1 4 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.992 0.125 189 PASS . . . . . . . . . . . ENSG00000211953:ENST00000390613:exon2:c.G300T:p.L100L . . . . 0.13402061 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5271 . . . . . . . . 6.293e-04 . . . 0.0051 0.0007 0.0007 0.0002 0 0.0001 0.0014 6.083e-05 0.0054 0.0006 0.0007 0.0001 0 7.393e-05 0 6.118e-05 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211953 abParts . . . dist\x3d46090\x3bdist\x3d147389 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.949e-05 2.993e-05 0 5.86e-05 0 2.756e-05 0.0002 3.258e-05 0 6.574e-05 0 0 0 0.0003 6.739e-05 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +. (chr14:106877816 AACT/A) 14 106877816 AACT A Not on a known gene +rs587600484 (chr14:106877822 T/C) 14 106877822 T C Not on a known gene +rs35005563 (chr14:106994009 G/T) 14 106994009 G T Not on a known gene +rs201179349 (chr14:106994010 C/T) 14 106994010 C T Not on a known gene +rs78367943 (chr14:106994011 T/C) 14 106994011 T C Not on a known gene +rs537009076 (chr14:106994181 T/C) 14 106994181 T C Not on a known gene +rs558607802 (chr14:106994182 A/G) 14 106994182 A G Not on a known gene +. (chr14:106994188 A/T) 14 106994188 A T Not on a known gene +. (chr14:106994195 AAATC/A) 14 106994195 AAATC A Not on a known gene +rs185275212 (chr14:106994209 T/C) 14 106994209 T C Not on a known gene +. (chr14:107049046 CTCAA/C) 14 107049046 CTCAA C Not on a known gene +rs782235534 (chr14:107049072 C/T) 14 107049072 C T Not on a known gene +. (chr14:107082881 T/TTAG) 14 107082881 T TTAG Not on a known gene +rs369382892 (chr14:107082882 G/A) 14 107082882 G A Not on a known gene +rs58653509 (chr14:107083602 C/T) 14 107083602 C T Not on a known gene +rs782227308 (chr14:107095452 A/T) 14 107095452 A T Not on a known gene +rs200817138 (chr14:107131305 A/T) 14 107131305 A T Not on a known gene +rs4931851 (chr15:20219371 T/C) 15 20219371 T C Not on a known gene +. (chr15:20317664 G/A) 15 20317664 G A Not on a known gene +. (chr15:20317687 C/T) 15 20317687 C T Not on a known gene +rs199759895 15 20657756 A G - HERC2P3 4871 Hect domain and RLD 2 pseudogene 3 XR_253333.1 -1 5077 0 substitution intron GRCh37 20657756 20657756 Chr15(GRCh37):g.20657756A>G 1396+848 1396+848 XR_253333.1:n.1396+848T>C p.? p.? 9 9 848 5' 82.9985 9.27414 0.985634 0.637595 82.9985 9.27414 0.985634 0.637595 0 rs199759895 yes no Frequency/1000G 2 0.000000 0 0.018171 0.051400 0.004100 0.003000 0.004000 0.017300 0.000075 0.000663 0.000030 0.000000 0.000000 0.000000 0.000033 0.000000 0.000160 0.000663 20 14 1 0 0 0 4 0 1 266628 21130 32976 9994 18610 30126 122438 25114 6240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 14 1 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4249238 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 1.000 2.788 190 PASS . . . . . 0.051 0.018 0.017 0.003 0.004 0.0041 . . . . . 0.13636364 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L703|HERC2P3|Non-coding_transcript|NON_CODING|NR_036432|NR_036432.ex.15) . . . . . . . 0.6716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0182 . . . 0.66 0.54 182 ENSG00000180229 HERC2P3 HERC2P3 . . . . . . 8 0.000123122 64976 0 0 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199759895 0.033 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 0 0 0 0 0 0 0 0 0 0.0020 0.0007 0.0013 0 0 0 0.0003 0.0011 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . 0.033 rs430500 rs430500 rs430500 rs199759895 1 1538 10 1/0 0,255,255 +rs748658535 15 20658646 G C - HERC2P3 4871 Hect domain and RLD 2 pseudogene 3 XR_253333.1 -1 5077 0 substitution exon GRCh37 20658646 20658646 Chr15(GRCh37):g.20658646G>C 1354 1354 XR_253333.1:n.1354C>G 9 -43 5' 82.9985 9.27414 0.985634 0.637595 82.9985 9.27414 0.985634 0 0 rs748658535 yes no Frequency 1 0.000000 0 0.006750 0.014911 0.014154 0.011156 0.002680 0.009061 0.003180 0.000375 0.008097 0.014911 350 111 89 11 19 38 69 1 12 51852 7444 6288 986 7090 4194 21700 2668 1482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 350 111 89 11 19 38 69 1 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5956311 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C G C>G 1.000 2.223 188 PASS . . . . . . . . . . . . . . . . 0.13084112 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R670G|HERC2P3|Non-coding_transcript|NON_CODING|NR_036432|NR_036432.ex.14) . . . . . . . 1.0118 . . . . . . . . 4.951e-05 . . . 0.0098 0.0014 0 0 0 0 0 0 0.0167 0.0055 0 0 0 0 . 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000180229 HERC2P3 HERC2P3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs748658535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 0.0227 0.0085 0.0150 0.0131 0.0029 0.0013 0.0046 0.0118 0.0091 0.0087 0.0028 0.0025 0 0.0010 0 0.0009 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 15 20658666 G A - HERC2P3 4871 Hect domain and RLD 2 pseudogene 3 XR_253333.1 -1 5077 0 substitution exon GRCh37 20658666 20658666 Chr15(GRCh37):g.20658666G>A 1334 1334 XR_253333.1:n.1334C>T 9 -63 5' 82.9985 9.27414 0.985634 0.637595 82.9985 9.27414 0.985634 0 0 Cryptic Acceptor Weakly Activated 20658652 2.99912 0.390873 78.1273 3.79393 0.39503 80.9001 0.004018 0.008994 0.008341 0.005814 0.001255 0.005505 0.001776 0.000379 0.005184 0.008994 243 74 69 7 10 28 45 1 9 60472 8228 8272 1204 7970 5086 25334 2642 1736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243 74 69 7 10 28 45 1 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 3.918 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A663V|HERC2P3|Non-coding_transcript|NON_CODING|NR_036432|NR_036432.ex.14) . . . . . . . 1.0083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000180229 HERC2P3 HERC2P3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 0.0125 0.0047 0.0084 0.0066 0.0013 0.0011 0.0023 0.0071 0.0055 0.0057 0.0021 0.0079 0 0.0010 0 0.0007 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 15 20658754 C G - HERC2P3 4871 Hect domain and RLD 2 pseudogene 3 XR_253333.1 -1 5077 0 substitution exon GRCh37 20658754 20658754 Chr15(GRCh37):g.20658754C>G 1246 1246 XR_253333.1:n.1246G>C 9 2 3' 85.0781 5.45203 0.421055 0 85.0781 5.39187 0.508039 0 0.0651841 0.000515 0.002317 0.000368 0.000000 0.000452 0.000000 0.000210 0.000000 0.000000 0.002317 40 25 4 0 4 0 7 0 0 77718 10790 10860 1506 8852 6026 33268 4266 2150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 25 4 0 4 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 1.000 3.918 177 PASS . . . . . . . . . . . . . . . . 0.10638298 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 141.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E634Q|HERC2P3|Non-coding_transcript|NON_CODING|NR_036432|NR_036432.ex.14) . . . . . . . I.70 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000180229 HERC2P3 HERC2P3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 0 7.021e-05 0.0002 0 0.0001 0 4.427e-05 0 0 0.0044 0.0017 0.0046 0 0.0023 0 0.0006 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +rs2930402 15 20741729 T C - GOLGA6L6 37225 Golgin A6 family-like 6 NM_001145004.1 -1 4091 2253 NP_001138476.1 A8MZA4 substitution missense exon GRCh37 20741729 20741729 Chr15(GRCh37):g.20741729T>C 673 673 NM_001145004.1:c.673A>G p.Lys225Glu p.Lys225Glu 7 35 3' 67.5204 6.73699 0.62253 5.34337 67.5204 6.73699 0.62253 5.72725 0 Tropomyosin rs2930402 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.992 0.205 K Lys AAA 0.425 E Glu GAA 0.417 225 5 2 Chimp 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 56.87 0.00 Tolerated 1 III.36 223 PASS . . . . . . . . . . . ENSG00000215405:ENST00000427390:exon7:c.A673G:p.K225E GOLGA6L6:uc001ytk.2:exon7:c.A673G:p.K225E UNKNOWN . . 0.225 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 40.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K213E|GOLGA6L6|mRNA|CODING|NM_001145004|NM_001145004.ex.8) . . . . . . . -1.7113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.39 0.37 182 ENSG00000215405 GOLGA6L6 GOLGA6L6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.59 rs2930402 . . . . . . ID\x3dCOSM3932026\x3bOCCURENCE\x3d2(urinary_tract) . . . . . . . ENST00000427390 0.109 -0.218 . 1.000000 A8MZA4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.377 -1.377000 . . 1.000000 . . 1.0E-223 . . . . . . . . . -1.377 . . rs2930402 rs2930402 rs2930402 rs201329257 1 1538 10 1/0 0,255,255 +. 15 20769563 A G - GOLGA8CP 32375 Golgin A8 family, member C, pseudogene NR_027411.1 1 5282 0 substitution exon GRCh37 20769563 20769563 Chr15(GRCh37):g.20769563A>G 193 193 NR_027411.1:n.193A>G 2 21 3' 86.7764 9.42963 0.915264 7.16232 86.7764 9.42963 0.915264 7.24086 0 Cryptic Acceptor Weakly Activated 20769583 1.66287 0.002949 78.7432 1.74538 0.003232 78.7432 transition A G A>G 0.016 -0.037 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K65E|GOLGA8CP|Non-coding_transcript|NON_CODING|NR_027411|NR_027411.ex.2) . . . . . . . -0.2821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . . . . ENSG00000181984 GOLGA8CP GOLGA8CP . uc010tzc.1:c.-3649A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 21042575 C T - POTEB 33734 POTE ankyrin domain family, member B NM_001277304.1 -1 1687 1635 NP_001264233.1 H3BUK9 substitution missense exon GRCh37 21042575 21042575 Chr15(GRCh37):g.21042575C>T 1420 1420 NM_001277304.1:c.1420G>A p.Glu474Lys p.Glu474Lys 10 608912 -3 5' 74.3789 7.63011 0.39027 0 77.1269 7.63523 0.433593 0 0.0495418 Cryptic Donor Weakly Activated 21042573 7.63011 0.39027 74.3789 7.63523 0.433593 77.1269 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.941 0.932 E Glu GAG 0.583 K Lys AAG 0.575 474 11 4 Hoffmann's two-fingered sloth 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.23 II.92 255 PASS . . . . . . . . . . . ENSG00000230031:ENST00000454856:exon10:c.G1420A:p.E474K POTEB:uc031qqz.1:exon10:c.G1420A:p.E474K . . . 0.41666666 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.491 . @ . . . . . 1 0.275 . . 24.0 . . . . . . . . . . 0.4792 -0.080 0.479 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.200 @ . . . 0.43 0.68 182 ENSG00000230031 POTEB . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.206 0.008 . . 37 . . . . . . . . 0.663 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.187 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.231 . . . . . 0.177 . 0.348 . HET 0.75 . . . . . . . . . . . . . . . . . . . . . 0.0001 0.008 . . . 0.259 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-255 0.999 0.424 . 0.128 0.785 . 0.300 . 0.039 . 0.567 . . . rs79163811 rs138824591 1 1538 10 1/0 0,255,255 +. 15 21042575 C T - POTEB2 48327 POTE ankyrin domain family, member B2 NM_001277303.1 -1 1687 1635 NP_001264232.1 H3BUK9 substitution missense exon GRCh37 21042575 21042575 Chr15(GRCh37):g.21042575C>T 1420 1420 NM_001277303.1:c.1420G>A p.Glu474Lys p.Glu474Lys 10 -3 5' 74.3789 7.63011 0.39027 0 77.1269 7.63523 0.433593 0 0.0495418 Cryptic Donor Weakly Activated 21042573 7.63011 0.39027 74.3789 7.63523 0.433593 77.1269 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.941 0.932 E Glu GAG 0.583 K Lys AAG 0.575 474 11 4 Hoffmann's two-fingered sloth 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.12 II.92 255 PASS . . . . . . . . . . . ENSG00000230031:ENST00000454856:exon10:c.G1420A:p.E474K POTEB:uc031qqz.1:exon10:c.G1420A:p.E474K . . . 0.41666666 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.491 . @ . . . . . 1 0.275 . . 24.0 . . . . . . . . . . 0.4792 -0.080 0.479 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.200 @ . . . 0.43 0.68 182 ENSG00000230031 POTEB . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.206 0.008 . . 37 . . . . . . . . 0.663 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.187 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.231 . . . . . 0.177 . 0.348 . HET 0.75 . . . . . . . . . . . . . . . . . . . . . 0.0001 0.008 . . . 0.259 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-255 0.999 0.424 . 0.128 0.785 . 0.300 . 0.039 . 0.567 . . . rs79163811 rs138824591 1 1538 10 1/0 0,255,255 +. 15 21066837 T A - POTEB 33734 POTE ankyrin domain family, member B NM_001277304.1 -1 1687 1635 NP_001264233.1 H3BUK9 substitution intron GRCh37 21066837 21066837 Chr15(GRCh37):g.21066837T>A 411-19 411-19 NM_001277304.1:c.411-19A>T p.? p.? 2 1 608912 -19 3' 80.7129 7.94346 0.892323 7.45466 80.7129 X.91 0.938044 IX.47 0.131454 Cryptic Acceptor Weakly Activated 21066818 7.94346 0.892323 80.7129 X.91 0.938044 80.7129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion A T A>T 0.016 0.690 250 PASS . . . . . . . . . . . . . . . . 0.30476192 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.2031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.31 182 ENSG00000230031 POTEB . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . rs4088568 . rs4088568 rs4088568 1 1538 10 1/0 0,244,255 +. 15 21066837 T A - POTEB2 48327 POTE ankyrin domain family, member B2 NM_001277303.1 -1 1687 1635 NP_001264232.1 H3BUK9 substitution intron GRCh37 21066837 21066837 Chr15(GRCh37):g.21066837T>A 411-19 411-19 NM_001277303.1:c.411-19A>T p.? p.? 2 1 -19 3' 80.7129 7.94346 0.892323 7.45466 80.7129 X.91 0.938044 IX.47 0.131454 Cryptic Acceptor Weakly Activated 21066818 7.94346 0.892323 80.7129 X.91 0.938044 80.7129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion A T A>T 0.016 0.690 250 PASS . . . . . . . . . . . . . . . . 0.30476192 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.2031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.31 182 ENSG00000230031 POTEB . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . rs4088568 . rs4088568 rs4088568 1 1538 10 1/0 0,244,255 +rs2605913 15 21071484 C T - POTEB 33734 POTE ankyrin domain family, member B NM_001277304.1 -1 1687 1635 NP_001264233.1 H3BUK9 substitution missense exon GRCh37 21071484 21071484 Chr15(GRCh37):g.21071484C>T 127 127 NM_001277304.1:c.127G>A p.Val43Met p.Val43Met 1 608912 -284 5' 78.4708 8.54931 0.916974 9.63902 78.4708 8.54931 0.916974 9.63902 0 rs2605913 no no 0 C 0.000000 0 0.005455 0.002636 0.002646 0.005952 0.013734 0.008528 0.006620 0.000728 0.009153 0.013734 131 7 16 2 32 19 45 2 8 24016 2656 6048 336 2330 2228 6798 2746 874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 7 16 2 32 19 45 2 8 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.047 0.125 V Val GTG 0.468 M Met ATG 1.000 43 11 5 Western lowland gorilla 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.14 II.99 176 PASS . . . . . . . . . . . . POTEB:uc031qqz.1:exon1:c.G127A:p.V43M . . . 0.104395606 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.345 . @ . . . . . 1 0.539 . . 182.0 . . . . . . . . . . -0.3611 -0.220 -0.361 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . @ . . . . . . ENSG00000230031 POTEB . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.402 0.018 . . 37 . . . . . . . . 0.361 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.276 . . . . . . . 0.171 . LowAF 0.11 rs140776964 . . . . . . . . . . . . . . . . . . . . . . . . . 0.027 . . . 0.0041 0.0073 0.0028 0.0068 0.0149 0.0088 0.0090 0.0134 0.0085 0 0 0 0 0 0 0 0 . . 0.133 . . . . . . . . 1.0E-176 0.005 0.169 . 0.138 . . 0.238 . 0.253 . . . . rs2605913 . . 1 1538 10 1/0 0,201,255 +rs2605913 15 21071484 C T - POTEB2 48327 POTE ankyrin domain family, member B2 NM_001277303.1 -1 1687 1635 NP_001264232.1 H3BUK9 substitution missense exon GRCh37 21071484 21071484 Chr15(GRCh37):g.21071484C>T 127 127 NM_001277303.1:c.127G>A p.Val43Met p.Val43Met 1 -284 5' 78.4708 8.54931 0.916974 9.63902 78.4708 8.54931 0.916974 9.63902 0 rs2605913 no no 0 C 0.000000 0 0.005455 0.002636 0.002646 0.005952 0.013734 0.008528 0.006620 0.000728 0.009153 0.013734 131 7 16 2 32 19 45 2 8 24016 2656 6048 336 2330 2228 6798 2746 874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 7 16 2 32 19 45 2 8 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.047 0.125 V Val GTG 0.468 M Met ATG 1.000 43 11 5 Western lowland gorilla 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0 IV.32 176 PASS . . . . . . . . . . . . POTEB:uc031qqz.1:exon1:c.G127A:p.V43M . . . 0.104395606 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.345 . @ . . . . . 1 0.539 . . 182.0 . . . . . . . . . . -0.3611 -0.220 -0.361 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . @ . . . . . . ENSG00000230031 POTEB . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.402 0.018 . . 37 . . . . . . . . 0.361 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.276 . . . . . . . 0.171 . LowAF 0.11 rs140776964 . . . . . . . . . . . . . . . . . . . . . . . . . 0.027 . . . 0.0041 0.0073 0.0028 0.0068 0.0149 0.0088 0.0090 0.0134 0.0085 0 0 0 0 0 0 0 0 . . 0.133 . . . . . . . . 1.0E-176 0.005 0.169 . 0.138 . . 0.238 . 0.253 . . . . rs2605913 . . 1 1538 10 1/0 0,201,255 +rs879110531 (chr15:21137110 A/C) 15 21137110 A C Not on a known gene +rs879037190 (chr15:21137122 T/C) 15 21137122 T C Not on a known gene +rs878917197 (chr15:21137131 A/G) 15 21137131 A G Not on a known gene +rs3900059 15 21187194 C G - LINC01193 28003 Long intergenic non-protein coding RNA 1193 NR_040094.1 1 3402 0 substitution exon GRCh37 21187194 21187194 Chr15(GRCh37):g.21187194C>G 602 602 NR_040094.1:n.602C>G 4 43 3' 84.2431 6.59077 0.477998 0 84.2431 6.59077 0.477998 0 0 rs3900059 no no 0 0.000000 0 0.004411 0.000000 0.002193 0.000000 0.004425 0.010490 0.002646 0.000000 0.000000 0.010490 14 0 1 0 1 9 3 0 0 3174 30 456 72 226 858 1134 264 134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 1 0 1 9 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.205 0.205 255 PASS . . . . . . . . . . . . . . . . 0.4347826 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 23.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tGc|S201C|LINC01193|Non-coding_transcript|NON_CODING|NR_040094|NR_040094.ex.4) . . . . . . . -0.2529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000258710 CT60 LINC01193 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0044 0.0022 0 0.0045 0 0.0011 0 0.0105 0 0.0043 0 0 0 0 0.0087 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3900059 rs3900059 rs3900059 rs3900059 1 1538 10 1/0 0,255,255 +. 15 21226095 T C - LINC01193 28003 Long intergenic non-protein coding RNA 1193 NR_040094.1 1 3402 0 substitution downstream GRCh37 21226095 21226095 Chr15(GRCh37):g.21226095T>C *27462 *27462 NR_040094.1:n.*27462T>C p.? p.? 5 30147 3' 73.836 V.75 0.120946 4.00954 73.836 V.75 0.120946 4.00954 0 transition T C T>C 0.161 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.6296296 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.57 0.23 182 ENSG00000259698 . . . dist\x3d27462\x3bdist\x3d100115 dist\x3d27462\x3bdist\x3d706419 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4931851 rs4931851 rs4931851 rs4931851 1 1538 10 1/0 0,255,255 +. (chr15:21236688 C/T) 15 21236688 C T Not on a known gene +. (chr15:21286279 C/G) 15 21286279 C G Not on a known gene +. (chr15:21286298 G/A) 15 21286298 G A Not on a known gene +rs202073419 (chr15:21369596 G/A) 15 21369596 G A Not on a known gene +rs200063810 (chr15:21369644 C/T) 15 21369644 C T Not on a known gene +. (chr15:21369657 C/T) 15 21369657 C T Not on a known gene +rs4984040 15 22016562 T A - CXADRP2 33973 Coxsackie virus and adenovirus receptor pseudogene 2 NR_024387.1 -1 2476 0 substitution exon GRCh37 22016562 22016562 Chr15(GRCh37):g.22016562T>A 317 317 NR_024387.1:n.317A>T 1 rs4984040 yes no Frequency 1 A 0.000000 0 0.000106 0.001038 0.000000 0.000896 0.000092 0.000000 0.000101 0.000000 0.000000 0.001038 18 4 0 5 1 0 8 0 0 169548 3852 25878 5582 10888 22434 79326 17550 4038 0.000071 0.001038 0.000000 0.000358 0.000000 0.000000 0.000076 0.000000 0.000000 6 2 0 1 0 0 3 0 0 6 0 0 3 1 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.992 0.609 187 PASS . . . . . . . . . . . . CXADRP2:uc010tzk.1:exon1:c.A155T:p.N52I . . . 0.12941177 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 85.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aTt|N106I|CXADRP2|Non-coding_transcript|NON_CODING|NR_024387|NR_024387.ex.1) . . . . . . . -0.6853 . . . . . . . . 1.198e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.43 0.17 182 ENSG00000258712 CXADRP2 CXADRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs143210112 0.554 0.601 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0001 0 0.0009 9.99e-05 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . 0.55 . rs4984040 rs4984040 rs143210112 1 1538 10 1.I 0,0,0 +rs150931609 (chr15:22073156 T/C) 15 22073156 T C Not on a known gene +rs2458862 (chr15:22082620 C/T) 15 22082620 C T Not on a known gene +rs8040506 (chr15:22082624 A/G) 15 22082624 A G Not on a known gene +rs8040519 (chr15:22082645 A/G) 15 22082645 A G Not on a known gene +rs4429251 (chr15:22082652 G/T) 15 22082652 G T Not on a known gene +rs6599743 (chr15:22082680 G/A) 15 22082680 G A Not on a known gene +. (chr15:22082683 G/C) 15 22082683 G C Not on a known gene +. (chr15:22156884 C/T) 15 22156884 C T Not on a known gene +. (chr15:22198421 C/G) 15 22198421 C G Not on a known gene +rs141755137 (chr15:22280848 C/G) 15 22280848 C G Not on a known gene +. (chr15:22289613 G/A) 15 22289613 G A Not on a known gene +rs71221838 15 22705330 T C - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution exon GRCh37 22705330 22705330 Chr15(GRCh37):g.22705330T>C 2294 2294 NR_027407.1:n.2294A>G 18 171 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 9.07338 0 New Acceptor Site 22705329 5.31793 0.301563 77.5339 rs71221838 yes no Frequency 1 T 0.000000 0 0.002680 0.000525 0.001666 0.000205 0.000159 0.004548 0.004001 0.000467 0.000277 0.004548 414 9 26 1 2 83 287 5 1 154466 17134 15608 4876 12544 18250 71734 10712 3608 0.001424 0.000117 0.000897 0.000000 0.000159 0.002301 0.002230 0.000000 0.000000 110 1 7 0 1 21 80 0 0 194 7 12 1 0 41 127 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.198 187 PASS . . . . . . . . . . . . . . . . 0.12790698 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K765R|GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|NR_027407.ex.18) . . . . . . . -0.4667 . . . . . . . . 3.033e-03 . . . 0.0012 0.0031 0.0013 0.0005 0 0.0037 0.0075 0.0052 0.0013 0.0035 0.0014 0.0004 0 0.0046 0.0074 0.0053 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.6 0.34 182 ENSG00000185182 GOLGA8DP GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs777387588 . . . . . . . . . . . . II.58 . . 0.798 -0.801 . 0.000000 F8WBT8 . . . . . . . . . 0.0007 0.0030 0.0017 0.0002 0.0002 0.0005 0.0044 0 0.0045 0.0004 0.0013 0.0013 0 0 0.0003 0.0023 0.0012 . . . . -0.264 -0.264000 . . 0.000000 . . 1.0E-187 . . . . . . . . . -0.264 . . rs62001513 rs62001513 rs62001513 rs112416247 1 1538 10 1/0 0,235,255 +. 15 22705680 G A - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution exon GRCh37 22705680 22705680 Chr15(GRCh37):g.22705680G>A 2029 2029 NR_027407.1:n.2029C>T 17 59 3' 83.1784 8.86152 0.7312 6.50969 83.1784 8.86152 0.7312 5.98182 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 618 208 20 4 0 0 254 112 20 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.079 -0.440 242 PASS . . . . . . . . . . . . . . . . 0.2784091 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 176.0 . . STOP_GAINED(HIGH|NONSENSE|Cag/Tag|Q677*|GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|NR_027407.ex.17) . . . . . . . -0.5403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000185182 GOLGA8DP GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . rs79267301 rs79267301 1 1538 10 1/0 0,218,255 +rs71243127 15 22707317 C T - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution intron GRCh37 22707317 22707317 Chr15(GRCh37):g.22707317C>T 1601-39 1601-39 NR_027407.1:n.1601-39G>A p.? p.? 13 12 -39 3' 77.054 7.99064 0.910228 X.42 77.054 7.99064 0.910228 IX.06 0 rs71243127 no no 0 C 0.000000 0 0.005166 0.001442 0.001340 0.009804 0.000000 0.000000 0.008965 0.002116 0.010922 0.009804 141 12 1 2 0 0 110 7 9 27294 8324 746 204 1618 0 12270 3308 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 141 12 1 2 0 0 110 7 9 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition G A G>A 0.000 0.286 197 PASS . . . . . . . . . . . . . . . . 0.15044248 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 226.0 . . INTRON(MODIFIER||||GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|) . . . . . . . -0.3035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000185182 abParts GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0052 0.0013 0.0098 0 0.0021 0.0090 0.0109 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . rs71243127 rs71243127 rs71243127 1 1538 10 1/0 0,196,255 +rs879998967 15 22712707 C T - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution intron GRCh37 22712707 22712707 Chr15(GRCh37):g.22712707C>T 433+122 433+122 NR_027407.1:n.433+122G>A p.? p.? 4 4 122 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.82154 0 rs879998967 no no 0 C 0.000000 0 0.000898 0.001550 0.000000 0.000000 0.000000 0.000000 0.000794 0.000000 0.004132 0.001550 6 3 0 0 0 0 2 0 1 6682 1936 264 48 70 0 2518 1604 242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition G A G>A 0.693 -0.037 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|) . . . . . . . -0.0932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000185182 abParts GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0009 0 0 0 0 0.0008 0.0041 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs4499203 rs4499203 rs4499203 rs4499203 1 1538 10 1/0 0,255,255 +rs2004047 15 22712917 G A - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution intron GRCh37 22712917 22712917 Chr15(GRCh37):g.22712917G>A 353-8 353-8 NR_027407.1:n.353-8C>T p.? p.? 4 3 -8 3' 72.9796 6.15874 0.205554 5.08816 74.7894 7.09835 0.214209 6.80977 0.073157 Cryptic Acceptor Weakly Activated 22712909 6.15874 0.205554 72.9796 7.09835 0.214209 74.7894 rs2004047 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 0 0 0 0 0 20 58 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 616 Genomes transition C T C>T 1.000 2.223 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . INTRON(MODIFIER||||GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|) . . . . . . . 0.4460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000185182 abParts GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 0 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs17137813 rs17137813 rs2004047 rs17137813 1 1538 10 1/0 0,213,255 +. 15 22739773 G A - GOLGA6L1 37444 Golgin A6 family-like 1 NM_001001413.3 1 3822 2007 NP_001001413.3 substitution missense exon GRCh37 22739773 22739773 Chr15(GRCh37):g.22739773G>A 523 523 NM_001001413.3:c.523G>A p.Gly175Arg p.Gly175Arg 5 51 3' 91.2922 8.96788 0.899956 8.10236 91.2922 8.96788 0.899956 7.85599 0 transition G A G>A 0.906 0.044 G Gly GGA 0.246 R Arg AGA 0.205 175 7 4 Macaque -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 235.38 39.51 Tolerated 0.5 II.90 bad 8.973E-5 0.6086 179 PASS . . . . . . . . . . . . GOLGA6L1:uc010tzx.1:exon5:c.G523A:p.G175R . . . 0.11111111 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.169 . @ . . . . . 1 0.278 . . 90.0 . . . . . . . . . . -0.5699 -0.780 -0.570 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000197414 GOLGA6L1 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.182 . . 0.314 . . . 0.618 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.249 . LowAF 0.19 . . . . . . . . . . . . . . . . . . . 0.550000 . . . . . . 0.129 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.149 0.149000 . . 0.550000 . . 1.0E-179 0.074 0.220 . 0.043 0.073 . 0.304 . 0.269 0.149 0.589 . . . . . 1 1538 10 1/0 0,232,255 +. 15 23261355 A C - GOLGA8IP 26660 Golgin A8 family, member I, pseudogene NR_024074.1 1 1899 0 substitution exon GRCh37 23261355 23261355 Chr15(GRCh37):g.23261355A>C 1134 1134 NR_024074.1:n.1134A>C 10 -40 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.93941 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60934 5480 11114 1532 7622 6612 26018 880 1676 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 156 Exomes transversion A C A>C 0.969 -0.198 204 PASS . . . . . . . . . . . ENSG00000153666:ENST00000450802:exon11:c.A835C:p.K279Q GOLGA8I:uc001yvh.1:exon10:c.A592C:p.K198Q . . . 0.17073171 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 82.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R378S|GOLGA8IP|Non-coding_transcript|NON_CODING|NR_024074|NR_024074.ex.10) . . . . . . . -0.9079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.29 0.23 182 ENSG00000153666 GOLGA8I GOLGA8IP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.08 . . . . . . . . . . . . . II.01 . ENST00000450802 0.83 -0.209 . 0.110000 Q8NA68 . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -0.051 -0.051000 . . 0.110000 . . 1.0E-204 . . . . . . . . . -0.051 . . . . . . 1 1538 10 1/0 0,241,255 +. 15 23261364 A T - GOLGA8IP 26660 Golgin A8 family, member I, pseudogene NR_024074.1 1 1899 0 substitution exon GRCh37 23261364 23261364 Chr15(GRCh37):g.23261364A>T 1143 1143 NR_024074.1:n.1143A>T 10 -31 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.69252 0 transversion A T A>T 0.984 -0.602 190 PASS . . . . . . . . . . . ENSG00000153666:ENST00000450802:exon11:c.A844T:p.R282W GOLGA8I:uc001yvh.1:exon10:c.A601T:p.R201W . . . 0.13483146 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R381S|GOLGA8IP|Non-coding_transcript|NON_CODING|NR_024074|NR_024074.ex.10) . . . . . . . -1.1276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.31 182 ENSG00000153666 GOLGA8I GOLGA8IP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.03 . . . . . . . . . . . . . V.67 . ENST00000450802 0.83 -1.66 . 0.020000 Q8NA68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.828 -0.828000 . . 0.020000 . . 1.0E-190 . . . . . . . . . -0.828 . . . . rs78373466 rs78373466 1 1538 10 1/0 0,234,255 +rs763191144 15 23263584 C A - GOLGA8IP 26660 Golgin A8 family, member I, pseudogene NR_024074.1 1 1899 0 substitution downstream GRCh37 23263584 23263584 Chr15(GRCh37):g.23263584C>A *841 *841 NR_024074.1:n.*841C>A p.? p.? 12 1310 3' 89.4439 8.02486 0.951885 10.925 89.4439 8.02486 0.951885 10.925 0 rs763191144 yes no Frequency 1 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000070 0.000000 0.000000 0.000070 8 0 0 0 0 0 8 0 0 245268 21430 31574 9664 17010 27654 114560 17404 5972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.992 1.497 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 66.0 . . DOWNSTREAM(MODIFIER||||GOLGA8IP|Non-coding_transcript|NON_CODING|NR_024074|) . . . . . . . 0.1509 . . . . . . . . 5.606e-05 . . . 0 0.0001 0 0 0 0.0003 0 0 0 5.282e-05 0 0 0 0.0001 0 0 . . . . . . intronic downstream downstream . . . @ . . . . . . ENSG00000153666 . GOLGA8IP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs763191144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.264e-05 0 0 0 0 7.024e-05 0 0 0 3.243e-05 0 0 0 0 6.712e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 23264202 T TC - GOLGA8IP 26660 Golgin A8 family, member I, pseudogene NR_024074.1 1 1899 0 duplication downstream GRCh37 23264207 23264208 Chr15(GRCh37):g.23264207dup *1464 *1464 NR_024074.1:n.*1464dup p.? p.? 12 1933 3' 89.4439 8.02486 0.951885 10.925 89.4439 8.02486 0.951885 10.925 0 rs758703615 no no 0 0.000000 0 0.005303 0.013578 0.005410 0.001590 0.002668 0.007486 0.002769 0.001054 0.007331 0.013578 360 147 56 2 20 43 73 4 15 67884 10826 10352 1258 7496 5744 26368 3794 2046 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000152 0.000000 0.000000 2 0 0 0 0 0 2 0 0 356 147 56 2 20 43 69 4 15 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.18947369 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 95 . . DOWNSTREAM(MODIFIER||||GOLGA8IP|Non-coding_transcript|NON_CODING|NR_024074|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intergenic . . . . . . . . . . ENSG00000153666 JB175342\x3bDQ572979 . . . dist\x3d1459\x3bdist\x3d18063 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758703615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0179 0.0061 0.0057 0.0018 0.0031 0.0047 0.0036 0.0088 0.0075 0.0102 0.0037 0.0016 0 0 0.0003 0.0014 0.0044 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs5811602 rs5811602 1 1538 10 1.I 0,7,72 +. 15 23310083 G C - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23310083 23310083 Chr15(GRCh37):g.23310083G>C 3790 3790 NR_002824.3:n.3790C>G 24 65 3' 85.6412 8.75571 0.963013 X.03 85.6412 8.75571 0.963013 X.43 0 New Donor Site 23310084 3.99481 0.132128 78.1021 transversion C G C>G 1.000 3.918 220 PASS . . . . . . . . . . . . . . . . 0.21621622 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Gtc|L1264V|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.24) . . . . . . . 1.1638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000140181 . HERC2P2 . dist\x3d45136\x3bdist\x3d1792 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs4966390 15 23318617 A G - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23318617 23318617 Chr15(GRCh37):g.23318617A>G 2498 2498 NR_002824.3:n.2498T>C 17 -94 5' 71.0434 7.04051 0.873797 3.89408 71.0434 7.04051 0.873797 3.89408 0 rs4966390 yes no Frequency 1 A 0.000000 0 0.000134 0.000343 0.000032 0.000000 0.000000 0.000115 0.000164 0.000069 0.000361 0.000343 31 6 1 0 0 3 18 1 2 231764 17502 31416 8590 18254 26196 109752 14520 5534 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 6 1 0 0 3 18 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.780 -1.651 206 PASS . . . . . . . . . . . . HERC2P2:uc001yvr.2:exon15:c.T2007C:p.P669P . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L833P|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.17) . . . . . . . 0.3413 . . . . . . . . 3.470e-05 . . . 0 6.037e-05 0 0 0 4.572e-05 0 0.0002 0 4.907e-05 0 0 0 3.262e-05 0 0.0002 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.67 0.51 182 ENSG00000140181 HERC2P2 HERC2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200914013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.413e-05 0 0 0 0 1.025e-05 0.0002 0.0001 0.0010 0.0011 0.0015 0 0 0.0003 0.0014 0.0013 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs4966390 rs4966390 rs4966390 rs200914013 1 1538 10 1/0 0,255,255 +rs4966389 15 23318623 C T - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23318623 23318623 Chr15(GRCh37):g.23318623C>T 2492 2492 NR_002824.3:n.2492G>A 17 89 3' 75.7865 IV.81 0.445027 0 75.7865 IV.81 0.445027 0 0 rs4966389 yes no Frequency 1 C 0.000000 0 0.000080 0.000164 0.000000 0.000000 0.000000 0.000037 0.000124 0.000067 0.000000 0.000164 19 3 0 0 0 1 14 1 0 237562 18272 31850 8762 18404 26930 112784 14876 5684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 3 0 0 0 1 14 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.480 -2.054 230 PASS . . . . . . . . . . . . HERC2P2:uc001yvr.2:exon15:c.G2001A:p.T667T . . . 0.25 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R831Q|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.17) . . . . . . . 0.1372 . . . . . . . . 1.731e-05 . . . 0 1.747e-05 0 0 0 0 0 8.859e-05 0 1.417e-05 0 0 0 0 0 8.9e-05 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.64 0.36 182 ENSG00000140181 HERC2P2 HERC2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202028660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.705e-06 0 0 0 0 0 0 3.713e-05 0.0005 0.0007 0 0 0 0.0003 0.0011 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs4966389 rs4966389 rs4966389 rs202028660 1 1538 10 1/0 0,255,255 +rs393808 15 23318668 G A - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23318668 23318668 Chr15(GRCh37):g.23318668G>A 2447 2447 NR_002824.3:n.2447C>T 17 44 3' 75.7865 IV.81 0.445027 0 75.7865 IV.81 0.445027 0 0 Cryptic Acceptor Strongly Activated 23318648 3.44406 0.559005 81.4893 3.87129 0.624931 81.4893 rs393808 yes no Frequency/1000G 2 A 0.000000 0 0.039736 0.077900 0.056200 0.006000 0.018900 0.023100 0.000106 0.000256 0.000093 0.000111 0.000000 0.000000 0.000120 0.000196 0.000000 0.000256 26 5 3 1 0 0 14 3 0 244888 19560 32206 8992 18452 27784 116780 15272 5842 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 5 3 1 0 0 14 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.732 -0.037 255 PASS . . . . . 0.078 0.04 0.023 0.006 0.019 0.056 . HERC2P2:uc001yvr.2:exon15:c.C1956T:p.A652A . . . 0.43333334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P816L|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.17) . . . . . . . 0.4897 . . . . . . . . 1.855e-04 . . . 0.0004 5.054e-05 9.379e-05 0 0 0 0 0 0.0003 3.126e-05 9.658e-05 0 0 0 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.68 0.45 182 ENSG00000140181 HERC2P2 HERC2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199970962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.563e-06 3.173e-05 0 0 0 0 0 0 0.0008 0.0010 0.0029 0.0039 0 0.0010 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs393808 rs393808 rs393808 rs199970962 1 1538 10 1/0 0,255,255 +rs567524280 15 23330017 G T - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23330017 23330017 Chr15(GRCh37):g.23330017G>T 1552 1552 NR_002824.3:n.1552C>A 11 -60 5' 91.6164 10.0647 0.997746 0 91.6164 10.0647 0.997746 0 0 rs567524280 yes no Frequency/1000G 2 G 0.001997 T 10 0.001997 0.006800 0.000000 0.001000 0.000000 0.000000 0.000064 0.000754 0.000000 0.000000 0.000111 0.000000 0.000000 0.000000 0.000000 0.000754 5 4 0 0 1 0 0 0 0 77908 5306 10708 1522 8998 5968 35944 7262 2200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 1.000 4.322 205 PASS . . . . . 0.0068 0.002 . 0.001 . . . HERC2P2:uc001yvr.2:exon9:c.C1061A:p.S354Y . . . 0.1764706 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 34.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Att|L518I|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.11) . . . . . . . 0.3306 . . . . . . . . 3.725e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0020 . . . . . . ENSG00000140181 HERC2P2 HERC2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 rs567524280 . . . . . . . . . . . . XI.15 . ENST00000422607 II.35 II.35 . 0.040000 E7EMG2 . . . . . . . . II.35 0 1.673e-05 0 0 0.0001 0 0 0 0 0.0017 0.0002 0 0 0 0 0 0 . . . . 1.313 1.313000 . . 0.040000 . . 1.0E-205 . . . . . . . . . 1.313 . . . . . . 1 1538 10 1/0 0,255,255 +. 15 23437962 A T - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution exon GRCh37 23437962 23437962 Chr15(GRCh37):g.23437962A>T 426 426 NR_033350.1:n.426A>T 4 -8 5' 82.032 8.84552 0.984054 6.38831 82.032 8.84552 0.984054 6.28561 0 Cryptic Acceptor Strongly Activated 23437975 0.000121 63.3811 0.70769 0.002093 69.1897 0.000045 0.000251 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000251 1 1 0 0 0 0 0 0 0 22082 3986 666 200 1462 0 11752 3276 740 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion A T A>T 1.000 1.739 195 PASS . . . . . . . . . . . . . . . . 0.14893617 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . . . . . . . . . 0.1983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . . . . ENSG00000175676 GOLGA8EP GOLGA8EP . uc001yvu.3:c.-2648A>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.529e-05 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs600532 15 23439394 G A - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution intron GRCh37 23439394 23439394 Chr15(GRCh37):g.23439394G>A 878+37 878+37 NR_033350.1:n.878+37G>A p.? p.? 6 6 37 5' 79.9214 6.03361 0.522429 4.41359 79.9214 6.03361 0.522429 3.98762 0 rs600532 no no 0 G 0.000000 0 0.000386 0.000243 0.000000 0.000000 0.000000 0.000000 0.000677 0.000000 0.000000 0.000677 11 2 0 0 0 0 9 0 0 28494 8238 780 218 1594 0 13298 3478 888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition G A G>A 0.000 0.125 213 PASS . . . . . . . . . . . . . . . . 0.19384615 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 325.0 . . . . . . . . . . -0.5513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000175676 GOLGA8EP GOLGA8EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs600532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs600532 rs600532 . . 1 1538 10 1/0 0,184,255 +rs201826349 15 23443505 C T - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution exon GRCh37 23443505 23443505 Chr15(GRCh37):g.23443505C>T 1606 1606 NR_033350.1:n.1606C>T 13 6 3' 77.054 7.99064 0.926121 X.95 77.054 7.99064 0.910228 10.1756 -0.00572027 rs201826349 yes no Frequency/1000G 2 C 0.000000 0 0.009784 0.022700 0.008200 0.003000 0.003000 0.007200 0.001918 0.001579 0.001931 0.006757 0.002874 0.001299 0.001769 0.000375 0.002341 0.006757 438 19 59 59 51 35 196 6 13 228322 12032 30550 8732 17748 26948 110772 15986 5554 0.000692 0.000332 0.000786 0.003207 0.000676 0.000668 0.000596 0.000000 0.001080 79 2 12 14 6 9 33 0 3 280 15 35 31 39 17 130 6 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1477947 Central nervous system 0.000424 2361 transition C T C>T 0.000 0.125 222 PASS . . . . . 0.023 0.0098 0.0072 0.003 0.003 0.0082 . GOLGA8EP:uc001yvu.3:exon13:c.C591T:p.R197R . . . 0.22033899 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 59.0 . . . . . . . . . . -0.4040 . . . . . . . . 1.120e-03 . . . 0 0.0006 0.0003 0 0 0.0010 0 0.0005 0 0.0004 0.0003 0 0 0.0006 0 0.0005 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0098 . . . 0.59 0.1 182 ENSG00000175676 GOLGA8EP GOLGA8EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201826349 . . . . . . ID\x3dCOSM1477947\x3bOCCURENCE\x3d1(breast) . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0016 0.0018 0.0062 0.0031 0 0.0013 0.0023 0.0013 0.0033 0.0047 0.0061 0.0242 0.0007 0.0020 0.0060 0.0026 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . rs71243128 rs71243128 rs201826349 1 1538 10 1/0 0,255,255 +rs77860555 15 23443548 C T - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution exon GRCh37 23443548 23443548 Chr15(GRCh37):g.23443548C>T 1649 1649 NR_033350.1:n.1649C>T 13 -28 5' 83.8893 X.72 0.713715 6.96286 83.8893 X.72 0.713715 6.26884 0 rs77860555 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.002300 0.003100 0.000000 0.001000 0.002900 0.000179 0.000484 0.000068 0.000000 0.000000 0.000000 0.000217 0.000548 0.000188 0.000548 39 5 2 0 0 0 23 8 1 217384 10332 29558 8532 17142 25790 106122 14586 5322 0.000037 0.000194 0.000068 0.000000 0.000000 0.000000 0.000019 0.000137 0.000000 4 1 1 0 0 0 1 1 0 31 3 0 0 0 0 21 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.953 0.367 186 PASS . . . . . 0.0023 0.0018 0.0029 . 0.001 0.0031 . GOLGA8EP:uc001yvu.3:exon13:c.C634T:p.L212L . . . 0.12820514 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 39.0 . . . . . . . . . . 0.1758 . . . . . . . . 1.611e-04 . . . 0 1.693e-05 0 0 0 3.536e-05 0 0 0 1.366e-05 0 0 0 2.557e-05 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.63 0.14 182 ENSG00000175676 GOLGA8EP GOLGA8EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs199944377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 5.02e-05 6.894e-05 0 0 0.0002 4.17e-05 0 0 0.0012 0.0016 0 0 0 0.0021 0.0019 0.0015 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71243129 rs71243129 rs199944377 1 1538 10 1/0 0,255,255 +rs200230621 15 23444085 G A - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution exon GRCh37 23444085 23444085 Chr15(GRCh37):g.23444085G>A 1755 1755 NR_033350.1:n.1755G>A 14 -14 5' 81.0413 8.27203 0.900361 7.41626 81.0413 8.27203 0.900361 7.42357 0 rs200230621 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.005000 0.000000 0.001359 0.000281 0.000935 0.011150 0.000000 0.000781 0.001113 0.003344 0.002646 0.011150 136 4 11 19 0 5 45 45 7 100094 14260 11762 1704 9418 6406 40440 13458 2646 0.000020 0.000000 0.000000 0.001174 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 134 4 11 17 0 5 45 45 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 0.609 192 PASS . . . . . . 0.0014 . . 0.005 0.002 . GOLGA8EP:uc001yvu.3:exon14:c.G740A:p.S247N . . . 0.13945578 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 294.0 . . . . . . . . . . 0.1277 . . . . . . . . 2.456e-03 . . . 0 0.0022 0 0 0.0312 0.0030 0 0.0026 0 0.0016 0 0 0.0278 0 . 0.0027 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0014 . . . 0.46 0.14 182 ENSG00000175676 GOLGA8EP GOLGA8EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0.05 rs200230621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0013 0.0010 0.0116 0 0.0029 0.0011 0.0012 0.0008 0.0003 0.0014 0 0.0082 0 0.0047 0.0012 0.0054 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs200230621 rs200230621 1 1538 10 1/0 0,183,255 +. (chr15:23570723 C/T) 15 23570723 C T Not on a known gene +. (chr15:23571274 A/T) 15 23571274 A T Not on a known gene +. (chr15:23574067 T/C) 15 23574067 T C Not on a known gene +. (chr15:23575924 C/T) 15 23575924 C T Not on a known gene +. (chr15:23579156 C/T) 15 23579156 C T Not on a known gene +rs543206777 15 23602871 G A - GOLGA8S 44409 Golgin A8 family member S NM_001355465.1 1 5572 1239 NP_001342394.1 substitution intron GRCh37 23602871 23602871 Chr15(GRCh37):g.23602871G>A -502 -502 NM_001355465.1:c.-607+105G>A p.? p.? 4 4 105 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.82154 0 rs543206777 yes no Frequency/1000G 2 G 0.000000 0 0.013179 0.001500 0.048100 0.000000 0.012900 0.005800 0.007546 0.002478 0.003836 0.007937 0.000627 0.000000 0.007858 0.021891 0.009050 0.021891 216 20 3 2 1 0 107 75 8 28626 8070 782 252 1596 0 13616 3426 884 0.027778 0.000000 0.000000 0.000000 0.000000 0.000000 0.018692 0.053333 0.000000 6 0 0 0 0 0 2 4 0 204 20 3 2 1 0 103 67 8 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition G A G>A 0.409 -0.117 220 PASS . . . . . 0.0015 0.013 0.0058 . 0.013 0.048 . . . . . 0.21621622 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||GOLGA8S|Non-coding_transcript|NON_CODING|NR_038843|) . . . . . . . -0.1736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0132 . . . . . . ENSG00000261739 GOLGA8S GOLGA8S . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs543206777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0075 0.0038 0.0079 0.0006 0.0219 0.0079 0.0090 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs368498592 15 23605924 C A - GOLGA8S 44409 Golgin A8 family member S NM_001355465.1 1 5572 1239 NP_001342394.1 substitution missense exon GRCh37 23605924 23605924 Chr15(GRCh37):g.23605924C>A 197 197 NM_001355465.1:c.197C>A p.Thr66Lys p.Thr66Lys 10 -39 5' 81.5823 8.90513 0.917225 7.12385 81.5823 8.90513 0.917225 6.31622 0 rs368498592 yes no Frequency 1 0.000000 0 0.000483 0.001009 0.000379 0.000402 0.000904 0.000364 0.000364 0.000632 0.000315 0.001009 131 23 13 4 17 11 45 16 2 271200 22806 34264 9954 18796 30180 123546 25304 6350 0.000059 0.000175 0.000000 0.000201 0.000000 0.000133 0.000032 0.000079 0.000000 8 2 0 1 0 2 2 1 0 115 19 13 2 17 7 41 14 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.898 -1.893 T Thr ACG 0.116 K Lys AAG 0.575 66 12 1 -1 -1 -1 0.71 0.33 8.VI 11.III 61 119 78 C0 246.10 0.00 Tolerated 0.25 3.I 181 PASS . . . . . . . . . . . ENSG00000261739:ENST00000562295:exon11:c.C836A:p.T279K . . . . 0.116883114 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.119 . @ . . . . . 1 0.084 . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R404S|GOLGA8S|Non-coding_transcript|NON_CODING|NR_038843|NR_038843.ex.10) . . . . . . . -0.4558 -0.221 -0.456 n . . . . . 7.737e-04 . . . 0.0011 0.0006 8.732e-05 0.0009 0.0011 0.0005 0 0.0006 0.0010 0.0006 9.003e-05 0.0008 0.0009 0.0005 0 0.0006 nonsynonymous_SNV . . 0.205 . . exonic ncRNA_exonic ncRNA_exonic . . 0.109 @ . . . 0.48 0.34 182 ENSG00000261739 GOLGA8S GOLGA8S . . . 0.000 0.029 . 33 0.00050788 64976 30 0.000500117 59986 . . 0 . . . . . . T 0.004 0.001 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 . . . . . . 0 . . . . . . . . . . . . 0 0.192 . . . . . 0.032 . 0.106 . LowAF 0.5 rs368498592 . . . . . . . . . . . . . . . . . . . . . . . . . 0.007 . . . 0.0006 0.0004 0.0003 0.0004 0.0009 0.0005 0.0003 0.0002 0.0004 0.0018 0.0012 0.0025 0 0.0013 0.0015 0.0008 0.0011 . . 0.133 . . . . . . . . 1.0E-181 0.998 0.411 . 0.043 0.039 . 0.286 . 0.095 . -1.692 . rs619006 rs619006 rs619006 rs368498592 1 1538 10 1/0 0,239,255 +rs762882142 15 23608273 G A - GOLGA8S 44409 Golgin A8 family member S NM_001355465.1 1 5572 1239 NP_001342394.1 substitution intron GRCh37 23608273 23608273 Chr15(GRCh37):g.23608273G>A 541-39 541-39 NM_001355465.1:c.541-39G>A p.? p.? 13 12 -39 3' 77.054 7.99064 0.910228 X.42 77.054 7.99064 0.910228 IX.06 0 rs762882142 yes no Frequency 1 0.000000 0 0.001388 0.000803 0.001496 0.003682 0.000000 0.000340 0.002128 0.000243 0.003626 0.003682 104 10 17 5 0 2 61 1 8 74904 12460 11360 1358 8854 5888 28668 4110 2206 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104 10 17 5 0 2 61 1 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.528 207 PASS . . . . . . . . . . . . . . . . 0.17721519 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 158.0 . . INTRON(MODIFIER||||GOLGA8S|Non-coding_transcript|NON_CODING|NR_038843|) . . . . . . . -0.2139 . . . . . . . . 1.976e-04 . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.15 182 ENSG00000261739 GOLGA8S GOLGA8S . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762882142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0012 0.0034 0 0 0.0003 0.0021 0.0003 0.0013 0.0029 0.0053 0.0054 0 0.0003 0.0048 0.0063 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . rs71243127 rs71243127 rs71243127 1 1538 10 1/0 0,213,255 +. 15 23610121 G C - GOLGA8S 44409 Golgin A8 family member S NM_001355465.1 1 5572 1239 NP_001342394.1 substitution missense exon GRCh37 23610121 23610121 Chr15(GRCh37):g.23610121G>C 1079 1079 NM_001355465.1:c.1079G>C p.Ser360Thr p.Ser360Thr 18 16 3' 71.0765 XI.88 0.905549 9.57235 71.0765 XI.88 0.923578 9.57354 0.00663649 0.000183 0.000156 0.000172 0.000000 0.000000 0.000000 0.000292 0.000000 0.000416 0.000292 15 2 2 0 0 0 10 0 1 82010 12790 11602 1596 9168 6130 34192 4126 2406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 2 2 0 0 0 10 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.016 0.044 S Ser AGC 0.243 T Thr ACC 0.361 360 12 8 Zebrafish 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 217.19 X.95 Tolerated 0.09 3.I 185 PASS . . . . . . . . . . . ENSG00000261739:ENST00000562295:exon19:c.G1718C:p.S573T . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.150 . @ . . . . . 1 0.050 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A702P|GOLGA8S|Non-coding_transcript|NON_CODING|NR_038843|NR_038843.ex.18) . . . . . . . 0.0485 -0.159 0.048 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.248 . . exonic ncRNA_exonic ncRNA_exonic . . 0.179 @ . . . 0.3 0.11 182 ENSG00000261739 GOLGA8S GOLGA8S . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.035 0.002 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.481 . . . . . . 0 . . . . . . . . . . . . 0 0.367 . . . . . 0.143 . 0.067 . LowAF 0.08 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.189 . . . 0 3.622e-05 0.0002 0 0 0 0 0 0 0.0003 0.0005 0 0 0 0 0.0008 0.0012 . . 0.246 . . . . . . . . 1.0E-185 0.994 0.380 . 0.043 0.722 . 0.240 . 0.077 . 0.671 . . . rs79535266 rs79535266 1 1538 10 1/0 0,242,255 +rs190025566 15 23685017 C G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685017 23685017 Chr15(GRCh37):g.23685017C>G 2605 2605 NM_001304388.1:c.2605G>C p.Ala869Pro p.Ala869Pro 8 1813 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs190025566 no no 0 0.000000 0 0.000063 0.000000 0.000084 0.000000 0.000092 0.000000 0.000079 0.000187 0.000000 0.000187 10 0 2 0 1 0 5 2 0 157698 14134 23918 8214 10824 22300 63172 10700 4436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 2 0 1 0 5 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.004 0.528 A Ala GCA 0.226 P Pro CCA 0.274 869 12 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Tolerated 0.06 III.18 183 PASS . . . . . . . . . . . . LOC283685:uc021sfx.1:exon1:c.G177C:p.G59G GOLGA6L2:NM_001304388:exon8:c.G2605C:p.A869P . . 0.12 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.129 . @ . . . . . 1 0.031 . . 50.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Cca|A869P|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.7104 -0.936 -0.710 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV synonymous_SNV nonsynonymous_SNV 0.558 . . exonic exonic exonic . . 0.159 @ . . . 0.25 0.66 182 ENSG00000174450 LOC283685 GOLGA6L2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.409 . . 0.332 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.170 . . . . . . . 0.068 . LowAF . rs190025566 . . . . . . . . . . . . . . ENST00000345070 0.476 0.476 . 0.270000 . . . . . . 0.043 . . . 0 4.587e-05 4.306e-05 0 0 0.0001 7.938e-05 0 0 0 0.0001 0.0014 0 0.0008 0.0003 7.823e-05 0 . . 0.133 . 0.501 0.501000 . . 0.270000 . . 1.0E-183 0.000 0.063 . 0.043 0.005 . 0.155 . 0.048 0.501 -0.653 . . . rs190025566 rs190025566 1 1538 10 1/0 0,255,255 +. 15 23685899 G A - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685899 23685899 Chr15(GRCh37):g.23685899G>A 1723 1723 NM_001304388.1:c.1723C>T p.Pro575Ser p.Pro575Ser 8 931 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 transition C T C>T 0.000 -14.080 P Pro CCA 0.274 S Ser TCA 0.148 575 12 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.09 III.33 179 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.C1723T:p.P575S . GOLGA6L2:NM_001304388:exon8:c.C1723T:p.P575S . . 0.11111111 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.232 . @ . . . . . 1 0.175 . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P575S|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3886 -0.110 -0.389 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.851 . . exonic upstream\x3bdownstream exonic . . . @ . . . 0.29 0.48 182 ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.272 0.010 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.131 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.097 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-179 0.000 0.063 . 0.074 0.065 . 0.049 . 0.016 . 0.557 . . . . . 1 1538 10 1/0 0,255,255 +rs796828035 15 23685904 A G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685904 23685904 Chr15(GRCh37):g.23685904A>G 1718 1718 NM_001304388.1:c.1718T>C p.Val573Ala p.Val573Ala 8 926 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs796828035 no no 0 0.000000 0 transition T C T>C 0.000 -14.080 V Val GTG 0.468 A Ala GCG 0.107 573 12 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.73 III.33 196 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.T1718C:p.V573A . GOLGA6L2:NM_001304388:exon8:c.T1718C:p.V573A . . 0.1521739 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.208 . @ . . . . . 1 0.097 . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V573A|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4023 -0.113 -0.402 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.857 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.399 0.018 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.088 . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-196 0.000 0.063 . 0.090 0.115 . 0.001 . 0.015 . 0.642 . . . . . 1 1538 10 1/0 0,255,255 +rs371459990 15 23685913 G C - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685913 23685913 Chr15(GRCh37):g.23685913G>C 1709 1709 NM_001304388.1:c.1709C>G p.Ala570Gly p.Ala570Gly 8 917 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs371459990 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 75362 3116 9812 5682 2604 14830 31182 6128 2008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 597 Exomes transversion C G C>G 0.000 -14.080 A Ala GCA 0.226 G Gly GGA 0.246 570 12 1 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.12 III.33 213 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.C1709G:p.A570G . GOLGA6L2:NM_001304388:exon8:c.C1709G:p.A570G . . 0.19642857 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.096 . @ . . . . . 1 0.064 . . 56.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gGa|A570G|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4094 -0.115 -0.409 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.839 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.366 0.016 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.123 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.065 . HET . rs371459990 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . . . . . . . . 1.0E-213 0.000 0.063 . 0.171 0.060 . 0.047 . 0.271 . 0.557 0.011 . . rs371459990 rs371459990 1 1538 10 1/0 0,255,255 +rs377626801 15 23685922 C T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685922 23685922 Chr15(GRCh37):g.23685922C>T 1700 1700 NM_001304388.1:c.1700G>A p.Gly567Glu p.Gly567Glu 8 908 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs377626801 no no 0 0.000000 0 transition G A G>A 0.000 -14.080 G Gly GGA 0.246 E Glu GAA 0.417 567 12 6 Zebrafish -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Deleterious 0.04 III.33 212 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.G1700A:p.G567E . GOLGA6L2:NM_001304388:exon8:c.G1700A:p.G567E . . 0.19298245 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.283 . @ . . . . . 1 0.075 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G567E|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3359 -0.102 -0.336 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.888 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.337 0.014 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.091 . HET . rs377626801 . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-212 0.077 0.221 . 0.117 0.019 . 0.218 . 0.036 . -0.677 . . . rs377626801 rs377626801 1 1538 10 1/0 0,255,255 +rs139434817 15 23685943 C T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685943 23685943 Chr15(GRCh37):g.23685943C>T 1679 1679 NM_001304388.1:c.1679G>A p.Gly560Glu p.Gly560Glu 8 887 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs139434817 yes no Frequency 1 0.000000 0 0.001116 0.000801 0.000065 0.000611 0.000110 0.000191 0.000922 0.010593 0.000392 0.010593 105 9 1 2 1 2 34 55 1 94106 11236 15432 3272 9064 10482 36880 5192 2548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105 9 1 2 1 2 34 55 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -14.080 G Gly GGA 0.246 E Glu GAA 0.417 560 12 2 Tetraodon -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 0.46 III.33 183 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.G1679A:p.G560E . GOLGA6L2:NM_001304388:exon8:c.G1679A:p.G560E . . 0.11940298 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.290 . @ . . . . . 1 0.076 . . 67.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G560E|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3353 -0.100 -0.335 n . . . . . 3.195e-03 . . . 0.0054 0.0138 0 0.0141 0.0714 0.0131 0.0556 0.0181 0.0123 0.0223 0 0.05 0.0417 0.0290 0.0455 0.0182 nonsynonymous_SNV . nonsynonymous_SNV 0.870 . . exonic upstream\x3bdownstream exonic . . . @ . . . 0.28 0.46 182 ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.026 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.092 . LowAF . rs139434817 . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . 0.0008 0.0013 6.644e-05 0.0007 0.0001 0.0142 0.0012 0.0005 0.0002 0.0008 0.0003 0 0 0 0 0.0002 0 . . 0.133 . . . . . . . . 1.0E-183 0.000 0.063 . 0.083 0.082 . 0.010 . 0.036 . 0.537 . . . rs201775197 rs201775197 1 1538 10 1/0 0,245,255 +rs765296034 15 23685946 A G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685946 23685946 Chr15(GRCh37):g.23685946A>G 1676 1676 NM_001304388.1:c.1676T>C p.Val559Ala p.Val559Ala 8 884 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs765296034 yes no Frequency 1 0.000000 0 0.000729 0.000656 0.000000 0.000240 0.000000 0.000000 0.000506 0.007695 0.000367 0.007695 74 7 0 1 0 0 20 45 1 101458 10668 16796 4174 9110 12602 39538 5848 2722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 74 7 0 1 0 0 20 45 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -14.080 V Val GTG 0.468 A Ala GCG 0.107 559 12 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.13 III.33 195 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.T1676C:p.V559A . GOLGA6L2:NM_001304388:exon8:c.T1676C:p.V559A . . 0.14754099 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.208 . @ . . . . . 1 0.093 . . 61.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V559A|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4213 -0.116 -0.421 n . . . . . 3.178e-03 . . . 0.0042 0.0094 0 0.0167 0.1 0.0098 0.0286 0.0090 0.0089 0.0128 0 0.0263 0.0556 0.0183 0.0227 0.0091 nonsynonymous_SNV . nonsynonymous_SNV 0.850 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.245 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.115 . LowAF . rs765296034 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0.0005 0.0008 0 0.0003 0 0.0095 0.0006 0.0004 0 0.0009 0.0003 0 0 0 0 0.0001 0 . . 0.133 . . . . . . . . 9.999999999999999E-196 0.000 0.063 . 0.043 0.050 . 0.001 . 0.042 . -0.230 . . . . . 1 1538 10 1/0 0,252,255 +rs758363163 15 23685952 G T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685952 23685952 Chr15(GRCh37):g.23685952G>T 1670 1670 NM_001304388.1:c.1670C>A p.Ala557Glu p.Ala557Glu 8 878 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs758363163 yes no Frequency 1 0.000000 0 0.000162 0.000310 0.000000 0.000000 0.000000 0.000000 0.000142 0.001150 0.000000 0.001150 20 3 0 0 0 0 7 10 0 123192 9690 19284 6692 8322 17760 49412 8698 3334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 3 0 0 0 0 7 10 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -14.080 A Ala GCA 0.226 E Glu GAA 0.417 557 12 8 Frog -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 232.67 0.00 Tolerated 0.19 III.16 198 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.C1670A:p.A557E . GOLGA6L2:NM_001304388:exon8:c.C1670A:p.A557E . . 0.15492958 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.252 . @ . . . . . 1 0.025 . . 71.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gAa|A557E|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3895 -0.116 -0.390 n . . . . . 1.194e-03 . . . 0 0.0021 0 0.0039 0 0.0016 0.0079 0.0028 0 0.0027 0 0.0065 0 0.0026 0.0114 0.0028 nonsynonymous_SNV . nonsynonymous_SNV 0.862 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.335 0.014 . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.120 . HET . rs758363163 . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . 0 0.0001 0 0 0 0.0013 7.123e-05 0 0 0.0008 0.0005 0 0 0 0 0.0005 0 . . 0.133 . . . . . . . . 1.0E-198 0.000 0.063 . 0.062 0.035 . 0.005 . 0.273 . -0.664 . . . . . 1 1538 10 1/0 0,246,255 +rs777884739 15 23685955 T C - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685955 23685955 Chr15(GRCh37):g.23685955T>C 1667 1667 NM_001304388.1:c.1667A>G p.Glu556Gly p.Glu556Gly 8 875 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs777884739 yes no Frequency 1 0.000000 0 0.000048 0.000087 0.000000 0.000000 0.000000 0.000047 0.000034 0.000294 0.000000 0.000294 7 1 0 0 0 1 2 3 0 145978 11484 23030 7692 10454 21094 58012 10206 4006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 1 2 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -14.080 E Glu GAA 0.417 G Gly GGA 0.246 556 12 1 -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 243.06 24.28 Deleterious 0.04 III.16 204 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.A1667G:p.E556G . GOLGA6L2:NM_001304388:exon8:c.A1667G:p.E556G . . 0.171875 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.108 . @ . . . . . 1 0.099 . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E556G|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4035 -0.118 -0.403 n . . . . . 9.746e-04 . . . 0 0.0017 0 0.0036 0 0.0013 0.0067 0.0022 0 0.0021 0 0.0057 0 0.0021 0.0096 0.0022 nonsynonymous_SNV . nonsynonymous_SNV 0.849 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.395 0.018 . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.501 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.157 . HET . rs777884739 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0 3.88e-05 0 0 0 0.0003 2.037e-05 0 4.741e-05 0.0002 0.0001 0 0 0 0 0.0001 0 . . 0.133 . . . . . . . . 1.0E-204 0.000 0.063 . 0.062 0.017 . 0.041 . 0.273 . -0.281 . . . . . 1 1538 10 1/0 0,252,255 +rs764109163 15 23686038 C G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution synonymous exon GRCh37 23686038 23686038 Chr15(GRCh37):g.23686038C>G 1584 1584 NM_001304388.1:c.1584G>C p.Gly528= p.Gly528Gly 8 792 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs764109163 yes no Frequency 1 0.000000 0 0.000065 0.000334 0.000000 0.000000 0.000000 0.000000 0.000045 0.000209 0.000000 0.000334 11 5 0 0 0 0 3 3 0 168734 14972 24604 8500 11572 22724 67366 14384 4612 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 5 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 0.528 G Gly GGG 0.250 G Gly GGC 0.342 528 179 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.G1548C:p.G516G GOLGA6L2:NM_001304388:exon8:c.G1584C:p.G528G . . 0.11320755 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggC|G528|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3363 . . . . . . . . 9.754e-04 . . . 0.0014 0.0013 0.0033 0 0 0.0021 0 0.0006 0.0022 0.0012 0.0049 0 0 0.0020 0 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs764109163 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.266e-05 0 0 0 0.0003 1.873e-05 0 0 0.0004 0.0002 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,254,255 +. 15 23686088 TCTC T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 deletion in-frame exon GRCh37 23686089 23686091 Chr15(GRCh37):g.23686089_23686091del 1531 1533 NM_001304388.1:c.1531_1533del p.Glu511del p.Glu511del 8 739 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs779250776 yes no Frequency 1 0.000000 0 0.000100 0.000859 0.000042 0.000000 0.000000 0.000044 0.000032 0.000000 0.000235 0.000859 16 11 1 0 0 1 2 0 1 159786 12800 24010 8446 10870 22526 63106 13778 4250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 11 1 0 0 1 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes GAG 255 Pass . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.1495_1497del:p.499_499del GOLGA6L2:NM_001304388:exon8:c.1531_1533del:p.511_511del . . 0.16666667 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 66 . . CODON_DELETION(MODERATE||gag/-|E511-|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . . . . . . . . . . 6.681e-05 . . . 0 5.928e-05 0 0 0 0.0001 0 0 0 7.679e-05 0 0 0 0.0003 0 0 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779250776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 4.286e-05 4.249e-05 0 0 0 0 0 4.439e-05 0.0012 0.0005 0 0 0 0 0.0002 0.0018 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,78 +rs68177477 15 23686113 C G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686113 23686113 Chr15(GRCh37):g.23686113C>G 1509 1509 NM_001304388.1:c.1509G>C p.Gln503His p.Gln503His 8 717 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs68177477 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.002000 0.000000 0.000000 0.001400 0.000229 0.000336 0.000000 0.000000 0.000000 0.001154 0.000048 0.000000 0.000710 0.001154 36 4 0 0 0 26 3 0 3 156886 11896 24004 8404 10818 22526 62206 12808 4224 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 4 0 0 0 26 3 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.012 -0.844 Q Gln CAG 0.744 H His CAC 0.587 503 12 3 Mouse 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Tolerated 0.09 III.37 201 PASS . . . . . . 0.0006 0.0014 . . 0.002 . GOLGA6L2:uc021sfy.1:exon8:c.G1473C:p.Q491H GOLGA6L2:NM_001304388:exon8:c.G1509C:p.Q503H . . 0.16176471 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.232 . @ . . . . . 1 0.182 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q503H|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -1.2099 -1.376 -1.210 c . . . . . 4.077e-04 . . . 0 0.0007 0 0 0 0.0002 0 0.0013 0 0.0009 0 0 0 0.0003 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.862 . . exonic exonic exonic . . . 0.0006 . . . 0.21 0.53 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.278 0.011 . . 37 . 0.293 . . 0.168 . . . 0.346 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.102 . . 0.013 . . . . . . 0 0.390 . . . . . . . 0.253 . HET 0.01 rs140882803 0.022 0.014 . . . . . . . . . . . . . . . . 0.100000 Q8N9W4 . . . . . 0.009 . . . 0 0.0002 0 0 0 0 0 0.0003 0.0012 0.0008 0.0005 0 0 0 0 0.0003 0.0038 . . 0.133 . -0.914 -0.914000 . . 0.100000 . . 1.0E-201 0.002 0.151 . 0.062 0.012 . 0.297 . 0.272 -0.914 -0.653 0.022 . rs68177477 rs68177477 rs68177477 1 1538 10 1/0 0,248,255 +rs190888297 15 23686143 C T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution synonymous exon GRCh37 23686143 23686143 Chr15(GRCh37):g.23686143C>T 1479 1479 NM_001304388.1:c.1479G>A p.Leu493= p.Leu493Leu 8 687 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs190888297 yes no Frequency 1 0.000000 0 0.000111 0.000303 0.000000 0.000000 0.000267 0.000044 0.000124 0.000000 0.000454 0.000303 18 4 0 0 3 1 8 0 2 162278 13194 24438 8424 11240 22618 64518 13442 4404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 4 0 0 3 1 8 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.020 -0.440 L Leu CTG 0.404 L Leu CTA 0.070 493 189 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.G1443A:p.L481L GOLGA6L2:NM_001304388:exon8:c.G1479A:p.L493L . . 0.13432837 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L493|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4008 . . . . . . . . 3.562e-05 . . . 0 6.729e-05 0 0 0 0 0 0.0001 0 8.797e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs190888297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.246e-06 0 0 0 0 0 0 4.421e-05 0.0006 0.0007 0 0 0.0026 0 0.0007 0.0028 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +rs76062343 15 23686157 G C - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686157 23686157 Chr15(GRCh37):g.23686157G>C 1465 1465 NM_001304388.1:c.1465C>G p.Gln489Glu p.Gln489Glu 8 673 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs76062343 no no 0 0.000000 0 0.000154 0.000287 0.000000 0.000000 0.000441 0.000000 0.000225 0.000178 0.000000 0.000441 22 3 0 0 4 0 13 2 0 142936 10438 21988 8128 9064 20588 57686 11242 3802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 3 0 0 4 0 13 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.051 0.528 Q Gln CAG 0.744 E Glu GAG 0.583 489 12 8 Zebrafish 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 353.86 0.00 Tolerated 0.3 III.32 197 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.C1429G:p.Q477E GOLGA6L2:NM_001304388:exon8:c.C1465G:p.Q489E . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.003 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Gag|Q489E|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -1.2640 -1.405 -1.264 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.859 . . exonic exonic exonic . . . @ . . . 0.28 0.64 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.195 0.007 . . 37 . 0.187 . . 0.320 . . . 0.041 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.059 . . 0 0 0 0 0 0 . 0.244 . . 0.285 . . . . . . 0 0.010 . . . . . . . 0.207 . HET 0.98 rs199834625 0.065 0.072 . . . . . . . . . . . . . . . . 1.000000 Q8N9W4 . . . . . 0.008 . . . 0 1.604e-05 0 0 0 0.0001 2.086e-05 0 0 0.0006 0.0011 0 0 0.0054 0.0006 0.0012 0 . . 0.133 . 0.482 0.482000 . . 1.000000 . . 1.0E-197 0.003 0.159 . 0.016 0.015 . 0.128 . 0.005 0.482 -0.230 0.065 . . rs76062343 rs76062343 1 1538 10 1/0 0,255,255 +rs75486959 15 23686162 T A - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686162 23686162 Chr15(GRCh37):g.23686162T>A 1460 1460 NM_001304388.1:c.1460A>T p.Glu487Val p.Glu487Val 8 668 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 New Donor Site 23686164 5.27991 0.411921 80.1385 rs75486959 no no 0 0.000000 0 0.000052 0.000000 0.000000 0.000000 0.000093 0.000000 0.000096 0.000083 0.000000 0.000096 8 0 0 0 1 0 6 1 0 155338 12474 23234 8350 10752 21524 62700 12090 4214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 1 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.020 0.448 E Glu GAG 0.583 V Val GTG 0.468 487 12 1 -3 -2 -4 0.92 0 12.III 5.IX 83 84 121 C0 353.86 0.00 Deleterious 0.02 III.32 202 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.A1424T:p.E475V GOLGA6L2:NM_001304388:exon8:c.A1460T:p.E487V . . 0.16666667 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.188 . @ . . . . . 1 0.008 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gTg|E487V|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -1.0229 -1.217 -1.023 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.864 . . exonic exonic exonic . . . @ . . . 0.33 0.67 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.141 0.005 . . 37 . 0.283 . . 0.157 . . . 0.033 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.334 . . 0.322 . . . . . . 0 0.117 . . . . . . . 0.210 . HET 0.39 rs75486959 . . . . . . . . . . . . . . . . . . 0.390000 Q8N9W4 . . . . . 0.007 . . . 0 1.504e-05 0 0 0 0.0001 1.946e-05 0 0 0 0.0003 0 0 0.0010 0 0.0004 0 . . 0.133 . 0.402 0.402000 . . 0.390000 . . 1.0E-202 0.000 0.063 . 0.016 0.003 . 0.001 . 0.043 0.402 -0.599 . . . rs75486959 rs75486959 1 1538 10 1/0 0,255,255 +rs74565846 15 23686163 C T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686163 23686163 Chr15(GRCh37):g.23686163C>T 1459 1459 NM_001304388.1:c.1459G>A p.Glu487Lys p.Glu487Lys 8 667 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs74565846 yes no Frequency 1 0.000000 0 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000082 0.000000 0.000095 7 0 0 0 0 0 6 1 0 156300 12790 23326 8342 10720 21548 63152 12186 4236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.012 -0.844 E Glu GAG 0.583 K Lys AAG 0.575 487 12 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.14 III.32 210 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.G1423A:p.E475K GOLGA6L2:NM_001304388:exon8:c.G1459A:p.E487K . . 0.1875 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.189 . @ . . . . . 1 0.009 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E487K|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -1.3757 -1.531 -1.376 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.863 . . exonic exonic exonic . . . @ . . . 0.28 0.62 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.234 0.009 . . 37 . 0.186 . . 0.237 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.249 . . 0.230 . . . . . . 0 0.395 . . . . . . . 0.186 . HET 0.83 rs74565846 . . . . . . . . . . . . . . . . . . 0.900000 Q8N9W4 . . . . . 0.003 . . . 0 1.506e-05 0 0 0 0.0001 1.95e-05 0 0 0 0.0002 0 0 0 0 0.0004 0 . . 0.133 . -0.891 -0.891000 . . 0.900000 . . 1.0E-210 0.000 0.063 . 0.016 0.002 . 0.007 . 0.002 -0.891 -0.281 . . . rs74565846 rs74565846 1 1538 10 1/0 0,255,255 +rs78380007 15 23686185 A C - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686185 23686185 Chr15(GRCh37):g.23686185A>C 1437 1437 NM_001304388.1:c.1437T>G p.Asn479Lys p.Asn479Lys 8 645 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs78380007 no no 0 0.000000 0 0.000798 0.002786 0.000279 0.000285 0.000193 0.000112 0.001200 0.000527 0.001001 0.002786 88 18 5 2 1 2 52 5 3 110266 6462 17926 7012 5180 17864 43330 9496 2996 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 88 18 5 2 1 2 52 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.287 -0.440 N Asn AAT 0.464 K Lys AAG 0.575 479 12 1 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C0 226.93 34.45 Tolerated 0.13 III.16 200 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.T1401G:p.N467K GOLGA6L2:NM_001304388:exon8:c.T1437G:p.N479K . . 0.1627907 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.003 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N479K|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.9430 -1.182 -0.943 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.857 . . exonic exonic exonic . . . @ . . . 0.26 0.62 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.199 0.007 . . 37 . 0.267 . . 0.151 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . 0.419 . . 0.492 . . . . . . 0 0.010 . . . . . . . 0.048 . HET 0.7 rs568841014 0.033 0.058 . . . . . . . . . . . . . . . . 1.000000 Q8N9W4 . . . . . 0.003 . . . 0 6.221e-05 0.0002 0.0001 0 0 0 0 0.0001 0.0051 0.0059 0.0035 0.0066 0.0016 0.0022 0.0084 0.0068 . . 0.133 . -0.437 -0.437000 . . 1.000000 . . 1.0E-200 0.000 0.063 . 0.043 0.004 . 0.008 . 0.003 -0.437 0.642 0.033 . . rs78380007 rs78380007 1 1538 10 1/0 0,255,255 +rs369364757 15 26806343 G A - GABRB3 4083 Gamma-aminobutyric acid (GABA) A receptor, beta 3 NM_000814.5 -1 5783 1422 NP_000805.1 P28472 substitution intron GRCh37 26806343 26806343 Chr15(GRCh37):g.26806343G>A 836-20 836-20 NM_000814.5:c.836-20C>T p.? p.? 8 7 137192 -20 3' 92.7048 11.437 0.984718 13.1016 92.7048 XI.35 0.982101 XII.92 0.0127089 rs369364757 yes no Frequency 1 G likely_benign 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000045 0.000000 0.000000 0.000045 5 0 0 0 0 0 5 0 0 243982 15270 33564 9844 17220 30762 111016 20848 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 134 Exomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 126 RCV000418138.1 germline clinical testing Likely benign 1 not specified transition C T C>T 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.61290324 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.4421 . . . . . . . . 3.946e-05 . . . 0 5.538e-05 0 0 0 0.0001 0 0 0 2.834e-05 0 0 0 5.532e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.21 182 ENSG00000166206 GABRB3 GABRB3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369364757 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 2.049e-05 0 0 0 0 4.504e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs369364757 rs369364757 1 1538 10 1/0 0,255,255 +. (chr15:28595689 C/T) 15 28595689 C T Not on a known gene +rs2442394 (chr15:28598414 A/G) 15 28598414 A G Not on a known gene +rs767352247 (chr15:28599774 C/T) 15 28599774 C T Not on a known gene +rs775062337 (chr15:28600186 G/T) 15 28600186 G T Not on a known gene +. 15 28626697 G T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28626697 28626697 Chr15(GRCh37):g.28626697G>T 345+16 345+16 NM_001350920.1:c.345+16G>T p.? p.? 4 4 16 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.09936 0 transversion G T G>T 0.827 -0.198 179 PASS . . . . . . . . . . . . . . . . 0.11023622 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . -0.0740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 ncRNA_intronic . . . @ . . . . . . ENSG00000153684 GOLGA8G . . uc031qrc.1:c.-2623G>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +. 15 28626785 C T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28626785 28626785 Chr15(GRCh37):g.28626785C>T 345+104 345+104 NM_001350920.1:c.345+104C>T p.? p.? 4 4 104 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.82154 0 Cryptic Donor Strongly Activated 28626783 64.1147 II.91 0.549957 74.2187 transition C T C>T 0.000 -0.521 209 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.2483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 ncRNA_intronic . . . @ . . . . . . ENSG00000153684 GOLGA8G . . uc031qrc.1:c.-2535C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 28627918 T C - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28627918 28627918 Chr15(GRCh37):g.28627918T>C 432+23 432+23 NM_001350920.1:c.432+23T>C p.? p.? 6 6 23 5' 92.583 10.0326 0.994998 XII.63 92.583 10.0326 0.994998 XII.12 0 transition T C T>C 0.000 -2.135 255 PASS . . . . . . . . . . . . . . . . 0.37572256 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 173.0 . . . . . . . . . . -0.8442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.34 0.34 182 ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62001509 rs62001509 rs599965 rs599965 1 1538 10 1/0 0,226,255 +. 15 28628105 C A - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28628105 28628105 Chr15(GRCh37):g.28628105C>A 517+37 517+37 NM_001350920.1:c.517+37C>A p.? p.? 7 7 37 5' 79.9214 6.03361 0.522429 4.11234 79.9214 6.03361 0.522429 3.98762 0 transversion C A C>A 0.016 1.900 255 PASS . . . . . . . . . . . . . . . . 0.37226278 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 137.0 . . . . . . . . . . -0.2256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.38 0.15 182 ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs600532 rs600532 rs600532 rs600532 1 1538 10 1/0 0,238,255 +rs760805694 15 28629590 G A - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution synonymous exon GRCh37 28629590 28629590 Chr15(GRCh37):g.28629590G>A 819 819 NM_001350920.1:c.819G>A p.Ser273= p.Ser273Ser 10 -7 5' 87.2541 7.65636 0.824856 5.30554 87.2541 7.65636 0.932586 5.05919 0.0435349 rs760805694 yes no Frequency 1 G 0.000000 0 0.000142 0.000221 0.000112 0.000000 0.000072 0.000091 0.000248 0.000000 0.000816 0.000248 9 2 2 0 1 1 2 0 1 63272 9064 17808 1026 13892 10962 8068 1226 1226 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000248 0.000000 0.000000 1 0 0 0 0 0 1 0 0 7 2 2 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.063 -2.781 S Ser TCG 0.056 S Ser TCA 0.148 273 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 85.0 . . . . . . . . . . -0.6727 . . . . . . . . 9.759e-05 . . . 0.0004 0.0004 0 0.0004 0 0.0018 0 0 0 8.347e-05 0 0.0003 0 0 0 0 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.43 0.35 182 ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 0.0001 0 7.356e-05 0 0.0003 0.0008 9.122e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs79059912 rs79059912 1 1538 10 1/0 0,234,255 +rs564926438 15 28632800 T G - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution missense exon GRCh37 28632800 28632800 Chr15(GRCh37):g.28632800T>G 1368 1368 NM_001350920.1:c.1368T>G p.Ile456Met p.Ile456Met 15 -40 5' 81.0413 8.27203 0.900361 5.49834 81.0413 8.27203 0.900361 6.05729 0 rs564926438 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.003000 0.003100 0.000000 0.001000 0.000000 0.001954 0.004274 0.001618 0.000406 0.000584 0.005161 0.001559 0.000273 0.002548 0.005161 525 86 55 4 11 152 194 7 16 268674 20122 33990 9858 18832 29454 124462 25676 6280 0.000134 0.000398 0.000177 0.000000 0.000000 0.000543 0.000032 0.000000 0.000318 18 4 3 0 0 8 2 0 1 489 78 49 4 11 136 190 7 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.008 -0.360 I Ile ATT 0.356 M Met ATG 1.000 456 12 1 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Tolerated 0.17 III.17 231 PASS . . . . . 0.003 0.0016 . . 0.001 0.0031 . . . . . 0.24719101 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.000 . @ . . . . . 1 0.003 . . 89.0 . . . . . . . . . . -0.5893 -0.246 -0.589 n . . . . . 3.044e-03 . . . 0.0025 0.0038 0.0012 0.0002 0.0005 0.0018 0.0045 0.0139 0.0025 0.0032 0.0008 0.0001 0.0005 0.0015 0.0045 0.0139 nonsynonymous_SNV nonsynonymous_SNV . 0.899 . . exonic exonic ncRNA_exonic . . 0.116 0.0016 . . . . . . ENSG00000153684 . . . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . 0.007 . . . . . . 0 . . 0.260 . . 0.080 . . . . . . 0 0.026 . . . . . 0.026 . 0.163 . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . 0.0021 0.0014 0.0014 0.0003 0.0005 4.499e-05 0.0009 0.0011 0.0052 0.0080 0.0063 0.0086 0.0035 0.0019 0.0017 0.0067 0.0106 . . 0.133 . . . . . . . . 1.0E-231 0.000 0.063 . 0.090 0.012 . 0.032 . 0.010 . -0.547 . . . . . 1 1538 10 1/0 0,243,255 +rs527642451 15 28632803 T G - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution synonymous exon GRCh37 28632803 28632803 Chr15(GRCh37):g.28632803T>G 1371 1371 NM_001350920.1:c.1371T>G p.Pro457= p.Pro457Pro 15 -37 5' 81.0413 8.27203 0.900361 5.49834 81.0413 8.27203 0.900361 6.56823 0 rs527642451 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.003000 0.014300 0.000000 0.002000 0.000000 0.002033 0.004506 0.001648 0.000507 0.000584 0.005355 0.001608 0.000273 0.003022 0.005355 546 91 56 5 11 157 200 7 19 268546 20196 33982 9860 18828 29318 124392 25682 6288 0.000149 0.000594 0.000177 0.000000 0.000000 0.000546 0.000032 0.000000 0.000318 20 6 3 0 0 8 2 0 1 506 79 50 5 11 141 196 7 17 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.197 0.125 P Pro CCT 0.283 P Pro CCG 0.115 457 240 PASS . . . . . 0.003 0.004 . . 0.002 0.014 . . . . . 0.27631578 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 76.0 . . . . . . . . . . -0.4297 . . . . . . . . 3.051e-03 . . . 0.0027 0.0039 0.0011 0.0002 0.0005 0.0017 0.0045 0.0140 0.0027 0.0033 0.0008 0.0001 0.0005 0.0015 0.0046 0.0140 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . 0.0040 . . . . . . ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0015 0.0015 0.0004 0.0005 4.499e-05 0.0009 0.0015 0.0054 0.0081 0.0064 0.0085 0.0035 0.0019 0.0017 0.0068 0.0116 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs546581357 15 28632806 C T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution synonymous exon GRCh37 28632806 28632806 Chr15(GRCh37):g.28632806C>T 1374 1374 NM_001350920.1:c.1374C>T p.Ser458= p.Ser458Ser 15 -34 5' 81.0413 8.27203 0.900361 5.49834 81.0413 8.27203 0.900361 4.60236 0 rs546581357 yes no Frequency/1000G 2 C 0.000000 0 0.004393 0.003000 0.015300 0.000000 0.003000 0.000000 0.002191 0.004591 0.001678 0.000506 0.000637 0.006093 0.001742 0.000234 0.003182 0.006093 589 94 57 5 12 178 217 6 20 268884 20474 33960 9874 18830 29216 124558 25686 6286 0.000156 0.000586 0.000177 0.000000 0.000000 0.000548 0.000048 0.000000 0.000318 21 6 3 0 0 8 3 0 1 547 82 51 5 12 162 211 6 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.843 0.609 S Ser AGC 0.243 S Ser AGT 0.149 458 227 PASS . . . . . 0.003 0.0044 . . 0.003 0.015 . . . . . 0.23404256 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 94.0 . . . . . . . . . . -0.2896 . . . . . . . . 3.010e-03 . . . 0.0026 0.0038 0.0011 0.0002 0.0005 0.0017 0.0044 0.0139 0.0026 0.0032 0.0008 0.0001 0.0005 0.0014 0.0045 0.0139 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . 0.0044 . . . . . . ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0017 0.0015 0.0004 0.0005 4.498e-05 0.0010 0.0017 0.0061 0.0080 0.0065 0.0085 0.0035 0.0019 0.0014 0.0071 0.0117 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs566731488 15 28632807 A G - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution missense exon GRCh37 28632807 28632807 Chr15(GRCh37):g.28632807A>G 1375 1375 NM_001350920.1:c.1375A>G p.Ile459Val p.Ile459Val 15 -33 5' 81.0413 8.27203 0.900361 5.49834 81.0413 8.27203 0.900361 5.VI 0 Cryptic Acceptor Strongly Activated 28632806 II.49 0.021973 65.1092 3.40795 0.049369 65.1092 rs566731488 yes no Frequency/1000G 2 A 0.000000 0 0.004393 0.003000 0.015300 0.000000 0.003000 0.000000 0.002312 0.004536 0.001740 0.000608 0.000637 0.006811 0.001807 0.000234 0.003501 0.006811 621 93 59 6 12 198 225 6 22 268638 20504 33904 9872 18828 29070 124504 25672 6284 0.000164 0.000585 0.000177 0.000000 0.000000 0.000550 0.000048 0.000000 0.000637 22 6 3 0 0 8 3 0 2 577 81 53 6 12 182 219 6 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.874 0.044 I Ile ATC 0.481 V Val GTC 0.240 459 12 8 Zebrafish 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Tolerated 0.4 III.17 231 PASS . . . . . 0.003 0.0044 . . 0.003 0.015 . . . . . 0.24731183 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.002 . @ . . . . . 1 0.011 . . 93.0 . . . . . . . . . . -0.5011 -0.226 -0.501 n . . . . . 3.026e-03 . . . 0.0026 0.0038 0.0011 0.0002 0.0005 0.0017 0.0044 0.0140 0.0026 0.0032 0.0008 0.0001 0.0005 0.0014 0.0045 0.0140 nonsynonymous_SNV nonsynonymous_SNV . 0.252 . . exonic exonic ncRNA_exonic . . 0.088 0.0044 . . . . . . ENSG00000153684 . . . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . 0.060 . . . . . . 0 . . 0.267 . . 0.184 . . . . . . 0 0.010 . . . . . 0.161 . 0.056 . HET 0.7 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.066 . . . 0.0026 0.0018 0.0016 0.0005 0.0005 4.5e-05 0.0011 0.0022 0.0068 0.0079 0.0064 0.0086 0.0035 0.0019 0.0014 0.0070 0.0106 . . 0.133 . . . . . . . . 1.0E-231 0.991 0.370 . 0.074 0.426 . 0.379 . 0.018 . 0.649 . . . . . 1 1538 10 1/0 0,242,255 +. 15 28633208 G A - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28633208 28633208 Chr15(GRCh37):g.28633208G>A 1408-206 1408-206 NM_001350920.1:c.1408-206G>A p.? p.? 16 15 -206 3' 88.2295 6.11336 0.742443 1.65182 88.2295 6.11336 0.742443 1.65182 0 New Acceptor Site 28633210 I.11 0.087321 67.0228 transition G A G>A 0.000 -0.198 188 PASS . . . . . . . . . . . . . . . . 0.13114753 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.4180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.3 182 ENSG00000153684 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs78486584 rs78486584 1 1538 10 1/0 0,250,255 +. 15 28633845 C T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution synonymous exon GRCh37 28633845 28633845 Chr15(GRCh37):g.28633845C>T 1668 1668 NM_001350920.1:c.1668C>T p.His556= p.His556His 18 59 3' 83.1784 8.86152 0.7312 6.50969 83.1784 8.86152 0.7312 5.98182 0 transition C T C>T 0.520 0.286 H His CAC 0.587 H His CAT 0.413 556 224 PASS . . . . . . . . . . . . . . . . 0.22380953 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 210.0 . . . . . . . . . . -0.1560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.37 0.26 182 ENSG00000153684 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs79267301 rs79267301 1 1538 10 1/0 0,206,255 +. 15 28634007 G A - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28634007 28634007 Chr15(GRCh37):g.28634007G>A 1763-18 1763-18 NM_001350920.1:c.1763-18G>A p.? p.? 19 18 -18 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.05 0.916582 9.03739 0.0033701 transition G A G>A 0.000 -0.602 244 PASS . . . . . . . . . . . . . . . . 0.28787878 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . -0.4821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.4 0.26 182 ENSG00000153684 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs2930391 rs2930391 rs2930391 rs2930391 1 1538 10 1/0 0,231,255 +. 15 28634070 G T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution missense exon GRCh37 28634070 28634070 Chr15(GRCh37):g.28634070G>T 1808 1808 NM_001350920.1:c.1808G>T p.Gly603Val p.Gly603Val 19 46 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 8.65776 0 transversion G T G>T 0.000 -0.279 G Gly GGA 0.246 V Val GTA 0.114 603 12 9 Tetraodon -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 232.49 50.17 Deleterious 0.01 III.17 255 PASS . . . . . . . . . . . . . . . . 0.49659863 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.364 . @ . . . . . 1 0.308 . . 147.0 . . . . . . . . . . -0.3700 -0.221 -0.370 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.247 . . exonic exonic ncRNA_exonic . . 0.109 @ . . . 0.35 0.26 182 ENSG00000153684 GOLGA8G . . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . 0.940 . . . . . . 0 . . 0.899 . . 0.971 . . . . . . 0 0.506 . . . . . . . 0.129 . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-255 0.221 0.243 . 0.124 0.009 . 0.270 . 0.252 . 0.562 . rs2120416 rs2120416 rs2120416 rs2120416 1 1538 10 1/0 0,244,255 +. 15 28634235 G C - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution 3'UTR GRCh37 28634235 28634235 Chr15(GRCh37):g.28634235G>C *26 *26 NM_001350920.1:c.*26G>C p.? p.? 19 211 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 9.07338 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 -3.265 255 PASS . . . . . . . . . . . . . . . . 0.41538462 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -1.1358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . @ . . . 0.62 0.66 182 ENSG00000153684 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2587271 rs2587271 rs2587271 rs2587271 1 1538 10 1/0 0,255,255 +. 15 28767693 C G - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution 3'UTR GRCh37 28767693 28767693 Chr15(GRCh37):g.28767693C>G *26 *26 NM_001350919.1:c.*26G>C p.? p.? 19 211 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 9.07338 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.028 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.4915254 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.8500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . @ . . . 0.64 0.71 182 ENSG00000183629 GOLGA8G . ENST00000329523:c.*26G>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2587271 rs2587271 rs2587271 rs2587271 1 1538 10 1/0 0,255,255 +. 15 28767858 C A - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution missense exon GRCh37 28767858 28767858 Chr15(GRCh37):g.28767858C>A 1808 1808 NM_001350919.1:c.1808G>T p.Gly603Val p.Gly603Val 19 46 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 8.65776 0 COSM5424726 Haematopoietic and lymphoid tissue 0.000850 3530 transversion G T G>T 0.000 -0.117 G Gly GGA 0.246 V Val GTA 0.114 603 12 9 Tetraodon -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 232.49 50.17 Deleterious 0.01 III.17 255 PASS . . . . . . . . . . . . . . . . 0.44827586 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.457 . @ . . . . . 1 0.291 . . 145.0 . . . . . . . . . . -0.3238 -0.221 -0.324 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.247 . . exonic exonic ncRNA_exonic . . 0.123 @ . . . 0.41 0.29 182 ENSG00000183629 GOLGA8G . . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.010 0.001 . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . 0.940 . . . . . . 0 . . 0.899 . . 0.971 . . . . . . 0 0.506 . . . . . 0.062 . 0.150 . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.028 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-255 0.001 0.137 . 0.090 0.008 . 0.232 . 0.247 . 0.542 . rs2120416 rs2120416 rs2120416 rs2120416 1 1538 10 1/0 0,238,255 +. 15 28767921 C T - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution intron GRCh37 28767921 28767921 Chr15(GRCh37):g.28767921C>T 1763-18 1763-18 NM_001350919.1:c.1763-18G>A p.? p.? 19 18 -18 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.05 0.916582 9.03739 0.0033701 transition G A G>A 0.000 -0.279 234 PASS . . . . . . . . . . . . . . . . 0.25373134 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . -0.5040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.37 0.24 182 ENSG00000183629 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . rs2930391 rs2930391 rs2930391 rs2930391 1 1538 10 1/0 0,228,255 +. 15 28768083 G A - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution synonymous exon GRCh37 28768083 28768083 Chr15(GRCh37):g.28768083G>A 1668 1668 NM_001350919.1:c.1668C>T p.His556= p.His556His 18 59 3' 83.1784 8.86152 0.7312 6.50969 83.1784 8.86152 0.7312 5.98182 0 transition C T C>T 0.228 -0.037 H His CAC 0.587 H His CAT 0.413 556 229 PASS . . . . . . . . . . . . . . . . 0.24056605 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 212.0 . . . . . . . . . . -0.1611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.39 0.24 182 ENSG00000183629 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs79267301 rs79267301 1 1538 10 1/0 0,206,255 +. 15 28773822 G T - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution intron GRCh37 28773822 28773822 Chr15(GRCh37):g.28773822G>T 517+37 517+37 NM_001350919.1:c.517+37C>A p.? p.? 7 7 37 5' 79.9214 6.03361 0.522429 4.11234 79.9214 6.03361 0.522429 3.98762 0 transversion C A C>A 0.000 1.820 255 PASS . . . . . . . . . . . . . . . . 0.4047619 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.2924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.24 182 ENSG00000183629 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs600532 rs600532 rs600532 rs600532 1 1538 10 1/0 0,243,255 +. 15 28774009 A G - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution intron GRCh37 28774009 28774009 Chr15(GRCh37):g.28774009A>G 432+23 432+23 NM_001350919.1:c.432+23T>C p.? p.? 6 6 23 5' 92.583 10.0326 0.994998 XII.63 92.583 10.0326 0.994998 XII.12 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.39263803 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . -0.5062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.41 0.29 182 ENSG00000183629 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62001509 rs62001509 rs599965 rs599965 1 1538 10 1/0 0,233,255 +rs879442636 15 28775142 G A - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution intron GRCh37 28775142 28775142 Chr15(GRCh37):g.28775142G>A 345+104 345+104 NM_001350919.1:c.345+104C>T p.? p.? 4 4 104 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.82154 0 Cryptic Donor Strongly Activated 28775144 64.1147 II.91 0.549957 74.2187 rs879442636 no no 0 G 0.000000 0 0.006684 0.002215 0.007958 0.004717 0.000000 0.000000 0.011081 0.003383 0.008333 0.011081 183 18 6 1 0 0 140 11 7 27378 8128 754 212 1558 0 12634 3252 840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 183 18 6 1 0 0 140 11 7 0 0 0 0 0 0 0 0 0 RF 28 Genomes transition C T C>T 0.008 -0.198 191 PASS . . . . . . . . . . . . . . . . 0.13793103 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.3246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 ncRNA_intronic . . . @ . . . . . . ENSG00000183629 GOLGA8G . . uc031qrd.1:c.-2535C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0067 0.0080 0.0047 0 0.0034 0.0111 0.0083 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. (chr15:28802151 G/A) 15 28802151 G A Not on a known gene +. (chr15:28803504 T/C) 15 28803504 T C Not on a known gene +. (chr15:28804001 A/G) 15 28804001 A G Not on a known gene +. (chr15:28806233 G/A) 15 28806233 G A Not on a known gene +. (chr15:28877893 G/A) 15 28877893 G A Not on a known gene +. (chr15:28878763 G/C) 15 28878763 G C Not on a known gene +. (chr15:28882717 C/A) 15 28882717 C A Not on a known gene +. (chr15:28887591 A/G) 15 28887591 A G Not on a known gene +. (chr15:28894114 G/A) 15 28894114 G A Not on a known gene +. (chr15:28894120 T/C) 15 28894120 T C Not on a known gene +. 15 28951271 T G - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution missense exon GRCh37 28951271 28951271 Chr15(GRCh37):g.28951271T>G 865 865 NM_001282468.1:c.865A>C p.Asn289His p.Asn289His 11 -10 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.79983 0 Cryptic Acceptor Strongly Activated 28951265 3.06603 2.6e-05 60.3761 3.73076 0.000255 64.1599 0.001333 0.002220 0.000740 0.000000 0.002396 0.000000 0.001086 0.002349 0.001147 0.002396 76 24 4 0 9 0 28 9 2 56994 10812 5402 1066 3756 4590 25792 3832 1744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 24 4 0 9 0 28 9 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426325 Haematopoietic and lymphoid tissue 0.001133 3530 transversion A C A>C 0.370 1.174 N Asn AAC 0.536 H His CAC 0.587 289 16 6 White-tuffed-ear marmoset 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 262.18 0.00 Tolerated 0.07 II.99 219 PASS . . . . . . . . . . . . . GOLGA8M:NM_001282468:exon11:c.A865C:p.N289H . . 0.21176471 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.088 . . 85.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N289H|GOLGA8M|mRNA|CODING|NM_001282468|NM_001282468.ex.11) . . . . . . . -0.6483 -0.853 -0.648 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.255 . . exonic downstream exonic . . 0.177 @ . . . 0.43 0.34 182 ENSG00000188626 DQ593032 GOLGA8M . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . 0.213 . . 0.262 . . . 0.618 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.636 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.337 . . . . . 0.086 . 0.100 . HET 0.08 . . . . . . . . . . . . . III.95 . ENST00000340249 0.798 0.798 . 0.060000 . . . . . . 0.147 . . . 0 3.203e-05 0 0 0 0 0 0.0010 0 0.0032 0.0029 0.0059 0 0.0076 0.0027 0.0023 0.0013 . . 0.246 . 0.605 0.605000 . . 0.060000 . . 1.0E-219 0.000 0.063 . 0.134 0.199 . 0.202 . 0.276 0.605 0.732 . . rs71401065 rs71401065 rs71401065 1 1538 10 1/0 0,243,255 +rs3091298 15 28951301 T G - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution missense exon GRCh37 28951301 28951301 Chr15(GRCh37):g.28951301T>G 835 835 NM_001282468.1:c.835A>C p.Lys279Gln p.Lys279Gln 11 -40 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.93941 0 0.003992 0.001548 0.001813 0.000840 0.000000 0.000000 0.002269 0.044678 0.008206 0.044678 242 18 12 1 0 0 60 136 15 60616 11628 6618 1190 4762 5106 26440 3044 1828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242 18 12 1 0 0 60 136 15 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5419621|COSM5419621|COSM5419621 Thyroid|Liver|Haematopoietic and lymphoid tissue 0.001339|0.000422|0.000283 747|2371|3530 transversion A C A>C 0.807 -0.360 K Lys AAG 0.575 Q Gln CAG 0.744 279 16 4 Macaque 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 61.81 0.00 Tolerated 0.16 II.98 176 PASS . . . . . . . . . . . . . GOLGA8M:NM_001282468:exon11:c.A835C:p.K279Q . . 0.10526316 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.115 . . 76.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K279Q|GOLGA8M|mRNA|CODING|NM_001282468|NM_001282468.ex.11) . . . . . . . -0.7196 -0.916 -0.720 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.213 . . exonic downstream exonic . . 0.118 @ . . . 0.45 0.38 182 ENSG00000188626 DQ593032 GOLGA8M . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.164 . . 0.290 . . . 0.424 0.194 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.187 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.361 . . . . . 0.040 . 0.217 . LowAF 0.03 . . . . . . . . . . . . . II.98 . ENST00000340249 0.798 -0.373 . 0.090000 . . . . . . 0.080 . . . 0 2.776e-05 0.0002 0 0 0 0 0 0 0.0023 0.0098 0.0165 0.0053 0 0.0555 0.0053 0.0208 . . 0.246 . -0.113 -0.113000 . . 0.090000 . . 1.0E-176 0.016 0.191 . 0.043 0.091 . 0.196 . 0.002 -0.113 -0.414 . . . rs67450559 rs67450559 1 1538 10 1/0 0,238,255 +. 15 28951364 A G - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution intron GRCh37 28951364 28951364 Chr15(GRCh37):g.28951364A>G 787-15 787-15 NM_001282468.1:c.787-15T>C p.? p.? 11 10 -15 3' 78.7591 8.25823 0.534386 VII.76 78.7591 8.35085 0.470069 7.54138 -0.0363804 0.000564 0.000790 0.000000 0.000000 0.001100 0.000169 0.000613 0.000781 0.000455 0.001100 41 10 0 0 8 1 18 3 1 72708 12654 10078 1392 7272 5908 29364 3842 2198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 10 0 0 8 1 18 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.521 209 PASS . . . . . . . . . . . . . . . . 0.18309858 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . INTRON(MODIFIER||||GOLGA8M|mRNA|CODING|NM_001282468|) . . . . . . . -0.6932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intronic . . . @ . . . . . . ENSG00000188626 DQ593032 GOLGA8M . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.519e-05 0 0 0.0002 0 5.883e-05 0 0.0002 0.0013 0.0014 0 0 0.0045 0.0009 0.0014 0.0012 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs408492 15 28953448 T A - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution intron GRCh37 28953448 28953448 Chr15(GRCh37):g.28953448T>A 348+73 348+73 NM_001282468.1:c.348+73A>T p.? p.? 5 5 73 5' 67.0945 2.34492 0.031213 0 67.0945 2.34492 0.031213 0 0 rs408492 yes no Frequency 1 T 0.000000 0 0.000097 0.000000 0.000000 0.000000 0.000000 0.000000 0.000134 0.000286 0.000000 0.000286 3 0 0 0 0 0 2 1 0 30928 8718 838 302 1616 0 14980 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transversion A T A>T 0.008 0.609 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||GOLGA8M|mRNA|CODING|NM_001282468|) . . . . . . . -0.1445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream\x3bdownstream intronic . . . @ . . . 0.67 0.49 182 ENSG00000188626 DQ582939\x3bDQ588687 GOLGA8M ENST00000340249:c.-24A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.7e-05 0 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs408492 rs408492 rs408492 rs408492 1 1538 10 1.I 0,0,0 +rs374694351 15 28953545 T C - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution synonymous exon GRCh37 28953545 28953545 Chr15(GRCh37):g.28953545T>C 324 324 NM_001282468.1:c.324A>G p.Lys108= p.Lys108Lys 5 15 3' 79.5333 11.1638 0.973755 11.1576 79.5333 11.1638 0.977983 11.0238 0.00144732 rs374694351 no no 0 T 0.000000 0 0.001409 0.005185 0.000884 0.000367 0.002773 0.000000 0.000892 0.002006 0.000518 0.005185 200 73 18 2 33 0 55 17 2 141908 14080 20372 5456 11902 16076 61686 8474 3862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 200 73 18 2 33 0 55 17 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.236 -0.117 K Lys AAA 0.425 K Lys AAG 0.575 108 199 PASS . . . . . . . . . . . ENSG00000188626:ENST00000563027:exon5:c.A324G:p.K108K . GOLGA8M:NM_001282468:exon5:c.A324G:p.K108K . . 0.15873016 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K108|GOLGA8M|mRNA|CODING|NM_001282468|NM_001282468.ex.5) . . . . . . . 0.0239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic ncRNA_exonic exonic . . . @ . . . 0.68 0.62 182 ENSG00000188626 DQ582939 GOLGA8M . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374694351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.287e-06 0 0 0 0 1.946e-05 0 0 0.0124 0.0094 0.0350 0.0128 0.0367 0.0060 0.0052 0.0030 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs4300622 rs4300622 rs4300622 rs374694351 1 1538 10 1/0 0,251,255 +. 15 29053520 C T - PDCD6IPP2 49873 PDCD6IP pseudogene 2 NR_037599.1 1 2100 0 substitution exon GRCh37 29053520 29053520 Chr15(GRCh37):g.29053520C>T 800 800 NR_037599.1:n.800C>T 7 -44 5' 87.2541 7.65636 0.980145 V.23 87.2541 7.65636 0.980145 5.77173 0 transition C T C>T 1.000 3.918 217 PASS . . . . . . . . . . . . . . . . 0.20502092 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 239.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A267V|PDCD6IPP2|Non-coding_transcript|NON_CODING|NR_037599|NR_037599.ex.7) . . . . . . . 1.1822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.44 182 ENSG00000261377 LOC646278 PDCD6IPP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs2289028 rs2289028 rs2289028 rs2289028 1 1538 10 1/0 0,198,255 +. 15 29086745 T C - PDCD6IPP2 49873 PDCD6IP pseudogene 2 NR_037599.1 1 2100 0 substitution intron GRCh37 29086745 29086745 Chr15(GRCh37):g.29086745T>C 1560+2777 1560+2777 NR_037599.1:n.1560+2777T>C p.? p.? 12 12 2777 5' 81.8287 6.98734 0.898907 3.1061 81.8287 6.98734 0.898907 3.1061 0 0.000802 0.000742 0.000000 0.000000 0.002805 0.000000 0.000787 0.000618 0.000000 0.002805 23 6 0 0 4 0 11 2 0 28684 8086 764 282 1426 0 13972 3236 918 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 6 0 0 4 0 11 2 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.740 0.367 253 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.1423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.44 0.19 182 ENSG00000261377 LOC646278 PDCD6IPP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0008 0 0 0.0028 0.0006 0.0008 0 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs4351114 rs4351114 rs4351114 rs4351114 1 1538 10 1/0 0,255,255 +rs146641926 15 29346682 G A - APBA2 579 Amyloid beta precursor protein binding family A member 2 NM_001353788.1 1 3941 2250 NP_001340717.1 Q99767 substitution missense exon GRCh37 29346682 29346682 Chr15(GRCh37):g.29346682G>A 595 595 NM_001353788.1:c.595G>A p.Glu199Lys p.Glu199Lys 4 602712 -357 5' 84.5905 9.78584 0.947122 XII.44 84.5905 9.78584 0.947122 XII.44 0 rs146641926 yes no Frequency 1 G 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000045 0.000000 0.000000 0.000045 5 0 0 0 0 0 5 0 0 245300 15196 33544 9810 17204 30742 111110 22226 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 97 Exomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 41 COSM1372279 Large intestine 0.000448 2231 transition G A G>A 0.000 -3.346 E Glu GAG 0.583 K Lys AAG 0.575 199 12 2 Chimp 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 233.15 36.47 Tolerated 0.3 III.40 255 PASS . . . . . . . . . . . . . . . . 0.48235294 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.015 . . 170.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -2.1613 -2.265 -2.161 c . . . . . 2.368e-05 . . . 0 1.133e-05 0 0 0 2.454e-05 0 0 0 1.931e-05 0 0 0 3.769e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.425 . . exonic exonic exonic . . 0.005 @ . . . 0.18 0.31 182 ENSG00000034053 APBA2 APBA2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.033 . . . . T 0.123 0.005 . . 37 . 0.185 . . 0.147 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.174 . . 0.127 . . . . . . 0 0.242 . . . . . 0.118 . 0.460 . HET 0.85 rs146641926 . . . . . . ID\x3dCOSM1372279\x3bOCCURENCE\x3d1(large_intestine) . . . . . 4.638 0.0 . IV.77 -9.54 . 0.340000 . . . . 0.000077 . 0.090 . . . 0 2.038e-05 0 0 0 0 4.5e-05 0 0 . . . . . . . . . . 0.609 . -4.582 -4.582000 . . 0.340000 . . 1.0E-255 0.000 0.063 . 0.016 0.327 . 0.070 . 0.001 -4.582 -0.775 0.0001 . . rs146641926 rs146641926 1 1538 10 1/0 0,235,255 +. 15 30012646 T C - TJP1 11827 Tight junction protein 1 NM_001301025.2 -1 7899 5586 NP_001287954.2 substitution synonymous exon GRCh37 30012646 30012646 Chr15(GRCh37):g.30012646T>C 2958 2958 NM_001301025.2:c.2958A>G p.Gln986= p.Gln986Gln 20 601009 -85 5' 94.2214 9.88355 0.998941 6.05418 94.2214 9.88355 0.998941 6.05418 0 transition A G A>G 0.913 -0.360 Q Gln CAA 0.256 Q Gln CAG 0.744 986 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 1.0845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000104067 TJP1 TJP1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62016979 15 30375254 C T - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution 5'UTR GRCh37 30375254 30375254 Chr15(GRCh37):g.30375254C>T -2 -2 NM_001282472.1:c.-2C>T p.? p.? 1 -50 5' 82.2129 8.37568 0.962674 8.53965 82.2129 8.37568 0.962674 8.13028 0 Cryptic Acceptor Strongly Activated 30375263 3.021 0.0068 71.8306 3.14875 0.014238 74.5425 rs62016979 no no 0 0.000000 0 0.007583 0.000000 0.008475 0.000000 0.000000 0.009050 0.006173 0.000000 0.000000 0.009050 17 0 8 0 0 8 1 0 0 2242 14 944 6 150 884 162 10 72 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 8 0 0 8 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.984 -0.440 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . UTR_5_PRIME(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|NM_001282472.ex.1) . . . . . . . 0.0230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream UTR5 . . . @ . . . . . . ENSG00000179938 AK310526 GOLGA8J ENST00000341650:c.-4604C>T . NM_001282472:c.-2C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62016979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0076 0.0085 0 0 0 0.0063 0 0.0090 0 0 . . . . 0 . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs62016979 rs62016979 rs62016979 rs62016979 1 1538 10 1/0 0,245,255 +. 15 30375530 G C - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30375530 30375530 Chr15(GRCh37):g.30375530G>C 48+227 48+227 NM_001282472.1:c.48+227G>C p.? p.? 1 1 227 5' 82.2129 8.37568 0.962674 8.53965 82.2129 8.37568 0.962674 8.53965 0 transversion G C G>C 0.000 -0.117 238 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.4056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream intronic . . . @ . . . . . . ENSG00000179938 AK310526 GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs2648178 rs2648178 rs2648178 rs2648178 1 1538 10 1/0 0,255,255 +rs752901007 15 30377020 C T - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution missense exon GRCh37 30377020 30377020 Chr15(GRCh37):g.30377020C>T 95 95 NM_001282472.1:c.95C>T p.Ala32Val p.Ala32Val 2 47 3' 84.6732 X.99 0.973201 VII.11 84.6732 X.99 0.973201 VII.11 0 rs752901007 yes no Frequency 1 0.000000 0 0.000075 0.000000 0.000052 0.000000 0.000000 0.000065 0.000130 0.000000 0.000000 0.000130 9 0 1 0 0 1 7 0 0 119448 4646 19182 5578 10192 15428 53728 7312 3382 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 1 0 0 0 0 0 1 0 0 7 0 1 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.005 A Ala GCG 0.107 V Val GTG 0.468 32 15 7 Coelacanth 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0.02 3.V 229 PASS . . . . . . . . . . . ENSG00000179938:ENST00000567927:exon2:c.C95T:p.A32V AK310526:uc001zcu.2:exon2:c.C56T:p.A19V GOLGA8J:NM_001282472:exon2:c.C95T:p.A32V . . 0.24324325 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.020 . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A32V|GOLGA8J|mRNA|CODING|NM_001282472|NM_001282472.ex.2) . . . . . . . -0.5235 -0.236 -0.524 n . . . . . 2.308e-05 . . . 0 0.0003 0 0 0 0 0 0.0005 0 0.0003 0 0 0 0 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.096 . . exonic exonic exonic . . 0.057 @ . . . . . . ENSG00000179938 AK310526 GOLGA8J . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . . . . . . . . 0.370 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.385 . . 0 0 0 0 0 0 . 0.131 . . 0.112 . . . . . . 0 0.264 . . . . . 0.065 . 0.030 . HET 0.21 rs752901007 . . . . . . . . . . . . . . . . . . . . . . . . . 0.013 . . . 0 7.776e-05 5.377e-05 0 0 0 0.0001 0 6.482e-05 0 6.034e-05 0 0 0 0 0.0001 0 . . 0.246 . . . . . . . . 1.0E-229 0.007 0.175 . 0.095 0.933 . 0.069 . 0.085 . -0.011 . rs4042440 rs4042440 rs4042440 rs4042440 1 1538 10 1/0 0,255,255 +. 15 30377910 G A - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30377910 30377910 Chr15(GRCh37):g.30377910G>A 169-76 169-76 NM_001282472.1:c.169-76G>A p.? p.? 3 2 -76 3' 78.357 7.75642 0.8783 5.35195 78.357 7.75642 0.8783 5.11285 0 transition G A G>A 0.008 0.205 199 PASS . . . . . . . . . . . . . . . . 0.1557377 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.1524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000179938 AK310526 GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +. 15 30381517 A C - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution missense exon GRCh37 30381517 30381517 Chr15(GRCh37):g.30381517A>C 865 865 NM_001282472.1:c.865A>C p.Asn289His p.Asn289His 11 -10 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.79983 0 Cryptic Acceptor Strongly Activated 30381523 3.06603 2.6e-05 60.3761 3.73076 0.000255 64.1599 transversion A C A>C 0.937 1.497 N Asn AAC 0.536 H His CAC 0.587 289 15 6 White-tuffed-ear marmoset 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 262.18 0.00 Tolerated 0.08 II.98 179 PASS . . . . . . . . . . . . . GOLGA8J:NM_001282472:exon11:c.A865C:p.N289H . . 0.11235955 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.033 . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N289H|GOLGA8J|mRNA|CODING|NM_001282472|NM_001282472.ex.11) . . . . . . . -0.5636 -0.759 -0.564 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.255 . . exonic downstream exonic . . 0.218 @ . . . 0.46 0.34 182 ENSG00000179938 DQ595055 GOLGA8J . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.050 0.002 . . 37 . 0.215 . . 0.212 . . . 0.798 0.210 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.636 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.323 . . . . . 0.141 . 0.069 . LowAF 0.17 . . . . . . . . . . . . . 5.1172 . ENST00000341650 I.48 I.48 . 0.170000 . . . . . . 0.229 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.944 0.944000 . . 0.170000 . . 1.0E-179 0.001 0.137 . 0.043 0.150 . 0.301 . 0.315 0.944 1.035 . . . rs76015620 rs76015620 1 1538 10 1/0 0,232,255 +rs765346782 15 30381552 G C - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30381552 30381552 Chr15(GRCh37):g.30381552G>C 874+26 874+26 NM_001282472.1:c.874+26G>C p.? p.? 11 11 26 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.10039 0 Cryptic Acceptor Strongly Activated 30381555 57.9031 0.61473 0.001175 68.7252 transversion G C G>C 0.213 0.205 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.2526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intronic . . . @ . . . 0.42 0.33 182 ENSG00000179938 DQ595055 GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs77412813 rs77412813 1 1538 10 1/0 0,234,255 +. 15 30384426 A G - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30384426 30384426 Chr15(GRCh37):g.30384426A>G 1368+90 1368+90 NM_001282472.1:c.1368+90A>G p.? p.? 15 15 90 5' 81.0413 8.27203 0.900361 7.63627 81.0413 8.27203 0.900361 7.63627 0 0.000197 0.000139 0.000000 0.000000 0.000000 0.000000 0.000253 0.000000 0.001229 0.000253 5 1 0 0 0 0 3 0 1 25402 7180 700 212 1392 0 11838 3266 814 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition A G A>G 0.000 0.932 181 PASS . . . . . . . . . . . . . . . . 0.116071425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 112.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.2080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000179938 . GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0002 0 0 0 0 0.0003 0.0012 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 15 30384435 G A - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30384435 30384435 Chr15(GRCh37):g.30384435G>A 1368+99 1368+99 NM_001282472.1:c.1368+99G>A p.? p.? 15 15 99 5' 81.0413 8.27203 0.900361 7.63627 81.0413 8.27203 0.900361 7.63627 0 0.000038 0.000136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 1 1 0 0 0 0 0 0 0 26228 7354 720 214 1442 0 12344 3324 830 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 30 Genomes transition G A G>A 0.000 -0.279 175 PASS . . . . . . . . . . . . . . . . 0.10280374 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.3467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000179938 . GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.813e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 15 30385056 C T - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30385056 30385056 Chr15(GRCh37):g.30385056C>T 1470-38 1470-38 NM_001282472.1:c.1470-38C>T p.? p.? 17 16 -38 3' 85.6012 X.38 0.910969 9.97037 85.6012 X.38 0.910969 X.38 0 30385059 -13.8503 0.000761 0.005473 0.000106 0.000000 0.001170 0.000000 0.000427 0.000543 0.000752 0.005473 163 89 3 0 17 0 43 7 4 214222 16262 28196 9068 14526 27258 100702 12888 5322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 163 89 3 0 17 0 43 7 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.489 201 PASS . . . . . . . . . . . . . . . . 0.1627907 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.6774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream\x3bdownstream intronic . . . @ . . . 0.71 0.34 182 ENSG00000221250 . GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 1.058e-05 3.635e-05 0 0 0 0 0 0 0.0134 0.0064 0.0029 0 0.0140 0.0022 0.0034 0.0050 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . rs4093557 rs4093557 rs4093557 rs4093557 1 1538 10 1/0 0,238,255 +. 15 30427974 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution intron GRCh37 30427974 30427974 Chr15(GRCh37):g.30427974C>T 48+575 48+575 NM_001355469.1:c.48+575C>T p.? p.? 1 1 575 5' 82.2129 8.37568 0.962674 8.53965 82.2129 8.37568 0.962674 8.53965 0 0.005662 0.017777 0.001618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.017777 112 111 1 0 0 0 0 0 0 19782 6244 618 178 926 0 8284 2928 604 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 111 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 28 Genomes transition C T C>T 0.323 1.174 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . . . . . . . . . -0.5535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . 0.4 0.28 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VI.87 . ENST00000453651 I.48 I.48 . 0.000000 . . . . . . . . . . . . . . . . . . . 0.0178 0.0057 0.0016 0 0 0 0 0 . . . . 1.138 1.138000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 1.138 . . . . rs75400858 rs75400858 1 1538 10 1/0 0,255,255 +. 15 30430008 G A - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution intron GRCh37 30430008 30430008 Chr15(GRCh37):g.30430008G>A 169-76 169-76 NM_001355469.1:c.169-76G>A p.? p.? 3 2 -76 3' 78.357 7.75642 0.8783 5.35195 78.357 7.75642 0.8783 5.11285 0 transition G A G>A 0.008 0.205 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . INTRON(MODIFIER||||GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|) . . . . . . . -0.1445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.25 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +. 15 30430340 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution stop gain exon GRCh37 30430340 30430340 Chr15(GRCh37):g.30430340C>T 244 244 NM_001355469.1:c.244C>T p.Arg82* p.Arg82* 4 16 3' 72.9796 6.50556 0.311358 5.77352 72.9796 6.50556 0.170977 5.32977 -0.150289 transition C T C>T 1.000 2.546 R Arg CGA 0.110 * * TGA 0.489 82 191 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon4:c.C244T:p.R82X . . . . 0.13829787 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.963 . @ . . . . . 1 0.586 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T121M|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.4) . . . . . . . 0.5715 -0.074 0.572 n . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . . exonic exonic ncRNA_exonic . . 0.218 @ . . . 0.36 0.35 182 ENSG00000261247 GOLGA8T GOLGA8T . . . 0.000 0.052 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.208 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.423 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-191 1.000 0.715 . 0.122 0.988 . 0.624 . 0.283 . 0.871 . . rs71222217 rs71222217 rs71222217 1 1538 10 1/0 0,232,255 +. 15 30430362 G C - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution missense exon GRCh37 30430362 30430362 Chr15(GRCh37):g.30430362G>C 266 266 NM_001355469.1:c.266G>C p.Arg89Thr p.Arg89Thr 4 38 3' 72.9796 6.50556 0.311358 5.77352 72.9796 6.50556 0.311358 6.57224 0 Cryptic Acceptor Strongly Activated 30430371 0.007227 IV.62 0.034025 70.8452 transversion G C G>C 1.000 2.546 R Arg AGG 0.207 T Thr ACG 0.116 89 12 2 Olive baboon -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 353.86 0.00 Tolerated 0.48 3.VIII 202 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon4:c.G266C:p.R89T . . . . 0.16483517 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.033 . @ . . . . . 1 0.049 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K128N|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.4) . . . . . . . 0.4531 -0.096 0.453 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.210 . . exonic exonic ncRNA_exonic . . 0.218 @ . . . 0.38 0.38 182 ENSG00000261247 GOLGA8T GOLGA8T . . . 0.000 0.052 . . . . . . . . . 0 . . . . . . T 0.056 0.003 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.431 . . . . . . 0 . . 0.212 . . 0.212 . . . . . . 0 0.189 . . . . . 0.208 . 0.137 . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.501 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-202 1.000 0.715 . 0.074 0.852 . 0.713 . 0.287 . 0.917 . rs2338464 rs2338464 rs2338464 rs2338464 1 1538 10 1/0 0,236,255 +rs372039906 15 30433513 A G - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution intron GRCh37 30433513 30433513 Chr15(GRCh37):g.30433513A>G 787-28 787-28 NM_001355469.1:c.787-28A>G p.? p.? 11 10 -28 3' 78.7591 8.25823 0.534386 7.64704 78.7591 8.25823 0.534386 7.72207 0 New Acceptor Site 30433514 8.08638 0.94299 84.689 rs372039906 no no 0 A 0.000000 0 0.000103 0.001242 0.000000 0.000000 0.000122 0.000000 0.000065 0.000000 0.000183 0.001242 23 13 0 0 2 0 7 0 1 222556 10464 31666 9114 16406 26546 107128 15754 5478 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 21 13 0 0 2 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.216 207 PASS . . . . . . . . . . . . . . . . 0.1780822 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . INTRON(MODIFIER||||GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|) . . . . . . . -0.7687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.36 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372039906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1,00E-05 0 0 0 0 2.106e-05 0 0 0.0031 0.0009 0 0 0.0015 0 0.0004 0.0013 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs2554154 rs2554154 rs2554154 rs2554154 1 1538 10 1/0 0,247,255 +rs376503372 15 30433526 T C - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution intron GRCh37 30433526 30433526 Chr15(GRCh37):g.30433526T>C 787-15 787-15 NM_001355469.1:c.787-15T>C p.? p.? 11 10 -15 3' 78.7591 8.25823 0.534386 7.64704 78.7591 8.35085 0.470069 7.27082 -0.0363804 rs376503372 no no 0 T 0.000000 0 0.000126 0.001299 0.000000 0.000000 0.000063 0.000039 0.000097 0.000000 0.000373 0.001299 27 13 0 0 1 1 10 0 2 214222 10010 30888 8922 15908 25644 103070 14424 5356 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 25 13 0 0 1 1 8 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.598 0.205 195 PASS . . . . . . . . . . . . . . . . 0.14666666 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . INTRON(MODIFIER||||GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|) . . . . . . . -0.2938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.39 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs376503372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.087e-05 0 0 0 0 3.3e-05 0 3.9e-05 0.0031 0.0010 0 0 0.0007 0 0.0006 0.0026 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs75197077 rs376503372 1 1538 10 1/0 0,243,255 +. 15 30437388 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution missense exon GRCh37 30437388 30437388 Chr15(GRCh37):g.30437388C>T 1598 1598 NM_001355469.1:c.1598C>T p.Ala533Val p.Ala533Val 18 34 3' 83.1784 8.86152 0.7312 5.72828 83.1784 8.86152 0.7312 5.58863 0 Cryptic Acceptor Strongly Activated 30437398 3.35865 0.022359 77.2108 5.03514 0.038202 80.4935 0.000188 0.000000 0.000097 0.000000 0.000551 0.000739 0.000000 0.000000 0.000000 0.000739 9 0 1 0 4 4 0 0 0 47804 4002 10332 1192 7262 5412 17566 640 1398 0.111111 0.000000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 7 0 1 0 4 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 85 Exomes transition C T C>T 0.976 -0.763 A Ala GCG 0.107 V Val GTG 0.468 533 12 2 Chimp 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 244.41 35.60 Tolerated 0.12 3.VI 183 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon18:c.C1598T:p.A533V GOLGA8T:uc021sha.1:exon16:c.C1391T:p.A464V . . . 0.11904762 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.061 . @ . . . . . 2 0.164 . . 84.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C516|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.16) . . . . . . . -0.4521 -0.244 -0.452 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.070 . . exonic exonic ncRNA_exonic . . 0.052 @ . . . . . . ENSG00000261247 GOLGA8T GOLGA8T . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.004 0.001 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.223 . . . . . . 0 . . . . . . . . . . . . 0 0.199 . . . . . 0.069 . 0.163 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.170 . . . 0 0.0002 9.679e-05 0 0.0006 0 0 0 0.0007 . . . . . . . . . . 0.246 . . . . . . . . 1.0E-183 0.990 0.367 . 0.016 0.006 . 0.179 . 0.000 . -1.284 . . . . . 1 1538 10 1/0 0,235,255 +. 15 30437426 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution synonymous exon GRCh37 30437426 30437426 Chr15(GRCh37):g.30437426C>T 1636 1636 NM_001355469.1:c.1636C>T p.Leu546= p.Leu546Leu 18 72 3' 83.1784 8.86152 0.7312 5.72828 83.1784 8.86152 0.7312 5.42524 0 0.000260 0.000230 0.000000 0.000000 0.000115 0.000894 0.000323 0.000000 0.000468 0.000894 18 2 0 0 1 5 9 0 1 69278 8706 11150 1350 8716 5594 27826 3798 2138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 2 0 0 1 5 9 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.016 0.609 L Leu CTG 0.404 L Leu TTG 0.127 546 181 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon18:c.C1636T:p.L546L GOLGA8T:uc021sha.1:exon16:c.C1429T:p.L477L . . . 0.114503816 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 131.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P529L|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.16) . . . . . . . -0.0891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.2 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0.0001 0 0.0004 0.0007 0.0009 0.0005 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs75914915 rs75914915 1 1538 10 1/0 0,216,255 +. 15 30437495 G A - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution missense exon GRCh37 30437495 30437495 Chr15(GRCh37):g.30437495G>A 1705 1705 NM_001355469.1:c.1705G>A p.Ala569Thr p.Ala569Thr 18 -16 5' 84.0719 8.94615 0.986827 12.254 84.0719 8.94615 0.986827 XI.27 0 0.000672 0.001782 0.000000 0.000000 0.000475 0.000000 0.000881 0.000000 0.001472 0.001782 44 14 0 0 4 0 23 0 3 65474 7856 10674 1270 8414 5598 26094 3530 2038 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 1 0 0 0 0 0 1 0 0 42 14 0 0 4 0 21 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.669 1.497 A Ala GCA 0.226 T Thr ACA 0.280 569 12 7 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 166.33 0.00 Tolerated 0.29 3.VI 185 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon18:c.G1705A:p.A569T GOLGA8T:uc021sha.1:exon16:c.G1498A:p.A500T . . . 0.124223605 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.345 . @ . . . . . 1 0.596 . . 161.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tAc|C552Y|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.16) . . . . . . . -0.0970 -0.190 -0.097 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.243 . . exonic exonic ncRNA_exonic . . 0.218 @ . . . . . . ENSG00000261247 GOLGA8T GOLGA8T . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.108 0.004 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.637 . . . . . . 0 . . . . . . . . . . . . 0 0.586 . . . . . 0.346 . 0.086 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.107 . . . 0 0.0001 0 0 0.0004 0 0.0002 0 0 0.0041 0.0021 0 0 0.0009 0 0.0021 0.0047 . . 0.246 . . . . . . . . 1.0E-185 0.001 0.137 . 0.137 0.008 . 0.224 . 0.291 . -0.044 . . . . . 1 1538 10 1/0 0,208,255 +. 15 30437500 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution synonymous exon GRCh37 30437500 30437500 Chr15(GRCh37):g.30437500C>T 1710 1710 NM_001355469.1:c.1710C>T p.Asp570= p.Asp570Asp 18 -11 5' 84.0719 8.94615 0.986827 12.254 84.0719 8.94615 0.986827 XI.48 0 0.000658 0.001666 0.000093 0.000791 0.000238 0.000000 0.000843 0.000000 0.001965 0.001666 43 13 1 1 2 0 22 0 4 65398 7802 10698 1264 8406 5602 26086 3504 2036 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 1 0 0 0 0 0 1 0 0 41 13 1 1 2 0 20 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.602 D Asp GAC 0.539 D Asp GAT 0.461 570 185 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon18:c.C1710T:p.D570D GOLGA8T:uc021sha.1:exon16:c.C1503T:p.D501D . . . 0.124223605 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 161.0 . . STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q554*|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.16) . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 9.921e-05 0 0.0003 0 0.0001 0 0 0.0039 0.0021 0 0.0071 0 0 0.0021 0.0063 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +. 15 30437549 A AG - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 duplication intron GRCh37 30437554 30437555 Chr15(GRCh37):g.30437554dup 1721-41 1721-41 NM_001355469.1:c.1721-41dup p.? p.? 19 18 -40 3' 71.0765 XI.88 0.937275 9.90852 71.0765 XI.88 0.937275 9.34697 0 rs537461443 no no 0 0.000000 0 0.001263 0.003543 0.000379 0.001653 0.001319 0.001690 0.001086 0.000000 0.001015 0.003543 80 24 4 2 11 9 28 0 2 63352 6774 10550 1210 8340 5326 25790 3392 1970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 24 4 2 11 9 28 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.17518248 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 137 . . INTRON(MODIFIER||||GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs537461443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0010 0.0003 0.0019 0.0014 0 0.0006 0.0015 0.0017 0.0050 0.0020 0.0015 0 0.0008 0 0.0019 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,76 +. 15 30696185 A G - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30696185 30696185 Chr15(GRCh37):g.30696185A>G 1720+19 1720+19 NM_001282484.1:c.1720+19T>C p.? p.? 18 18 19 5' 84.0719 8.94615 0.986827 XII.96 84.0719 8.94615 0.986827 XII.03 0 0.007712 0.003086 0.000000 0.000000 1.000000 0.333333 0.000000 0.000000 0.000000 1.000000 6 2 0 0 2 2 0 0 0 778 648 90 0 2 6 22 0 10 0.007712 0.003086 0.000000 0.000000 1.000000 0.333333 0.000000 0.000000 0.000000 3 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.008 -1.651 188 PASS . . . . . . . . . . . . . . . . 0.13084112 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . -0.6630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000186399 . GOLGA8R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0077 0 . 1 . 0 0 0.3333 . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs112937122 rs112937122 1 1538 10 1/0 0,226,255 +rs4079045 15 30696575 C T - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30696575 30696575 Chr15(GRCh37):g.30696575C>T 1467-23 1467-23 NM_001282484.1:c.1467-23G>A p.? p.? 17 16 -23 3' 85.6012 X.38 0.88557 9.96242 85.6012 X.38 0.88557 X.78 0 rs4079045 yes no Frequency 1 0.000000 0 0.002999 0.002322 0.012681 0.000000 0.000000 0.002513 0.001678 0.000000 0.000000 0.012681 18 7 7 0 0 1 3 0 0 6002 3014 552 78 44 398 1788 22 106 0.000333 0.000000 0.003623 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 16 7 5 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.693 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.8 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . -0.2918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000221723 . GOLGA8R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374212816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0030 0.0128 0 0 0 0.0017 0 0.0025 0.0034 0.0032 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4079045 rs4079045 rs4079045 rs374212816 1 1538 10 1/0 0,255,255 +. 15 30697220 T C - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30697220 30697220 Chr15(GRCh37):g.30697220T>C 1365+90 1365+90 NM_001282484.1:c.1365+90A>G p.? p.? 15 15 90 5' 81.0413 8.27203 0.900361 7.48013 81.0413 8.27203 0.900361 7.48013 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1022 828 18 2 18 0 102 42 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 110 Genomes transition A G A>G 0.063 -0.198 200 PASS . . . . . . . . . . . . . . . . 0.16071428 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . -0.5121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000186399 . GOLGA8R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs4102151 rs4102151 rs4102151 rs112987997 1 1538 10 1/0 0,255,255 +. 15 30703424 G A - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30703424 30703424 Chr15(GRCh37):g.30703424G>A 229-22 229-22 NM_001282484.1:c.229-22C>T p.? p.? 4 3 -22 3' 72.9796 6.50556 0.311358 5.57737 72.9796 6.50556 0.311358 5.29356 0 0.000419 0.000000 0.000000 0.000000 0.000000 0.001259 0.000000 0.000000 0.000000 0.001259 1 0 0 0 0 1 0 0 0 2388 14 1252 2 110 794 110 2 104 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 1.000 1.981 204 PASS . . . . . . . . . . . . . . . . 0.17021276 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 94.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . 0.4703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic intronic . . . @ . . . . . . ENSG00000186399 FLJ00278 GOLGA8R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0 0 0 0.0013 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs4283193 rs4283193 rs4283193 rs4283193 1 1538 10 1/0 0,235,255 +. 15 30706231 C T - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30706231 30706231 Chr15(GRCh37):g.30706231C>T 48+87 48+87 NM_001282484.1:c.48+87G>A p.? p.? 1 1 87 5' 82.2129 8.37568 0.962674 8.14638 82.2129 8.37568 0.962674 8.14638 0 Cryptic Acceptor Strongly Activated 30706228 0.001286 69.0112 1.06801 0.058895 69.8659 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 8 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4000 Genomes transition G A G>A 0.016 0.609 221 PASS . . . . . . . . . . . . . . . . 0.22 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . -0.2841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000186399 . GOLGA8R . dist\x3d2569\x3bdist\x3d140754 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs78483950 rs78483950 1 1538 10 1/0 0,255,255 +rs76938950 15 30848536 G A - GOLGA8Q 44408 Golgin A8 family member Q NM_001355476.1 1 1899 1899 NP_001342405.1 F8WBI6 substitution intron GRCh37 30848536 30848536 Chr15(GRCh37):g.30848536G>A 396+11 396+11 NM_001355476.1:c.396+11G>A p.? p.? 6 6 11 5' 92.583 10.0326 0.994998 13.1478 92.583 10.0326 0.994998 12.0648 0 rs76938950 no no 0 G 0.000000 0 0.002093 0.000252 0.006112 0.001786 0.003734 0.009253 0.000438 0.000271 0.001344 0.009253 97 2 35 1 22 26 8 1 2 46352 7932 5726 560 5892 2810 18250 3694 1488 0.000129 0.000000 0.000000 0.000000 0.001018 0.000000 0.000000 0.000000 0.000000 3 0 0 0 3 0 0 0 0 91 2 35 1 16 26 8 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.016 -0.360 229 PASS . . . . . . . . . . . . . . . . 0.24074075 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 162.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic intergenic . . . @ . . . 0.52 0.28 182 ENSG00000178115 FLJ00278 . . . dist\x3d142073\x3bdist\x3d16222 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs76938950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0047 0.0070 0.0029 0.0041 0.0041 0.0014 0.0031 0.0093 0 0.0002 0 0 0.0027 0 0 0 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs76938950 rs76938950 1 1538 10 1/0 0,218,255 +. 15 30853291 A G - GOLGA8Q 44408 Golgin A8 family member Q NM_001355476.1 1 1899 1899 NP_001342405.1 F8WBI6 substitution missense exon GRCh37 30853291 30853291 Chr15(GRCh37):g.30853291A>G 1322 1322 NM_001355476.1:c.1322A>G p.Gln441Arg p.Gln441Arg 15 46 3' 76.921 8.29815 0.91017 9.36929 76.921 8.29815 0.91017 9.63296 0 0.009054 0.029412 0.027027 0.000000 0.000000 0.000000 0.005780 0.004525 0.047619 0.029412 9 1 2 0 0 0 2 2 2 994 34 74 14 28 14 346 442 42 0.002012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004525 0.000000 1 0 0 0 0 0 0 1 0 7 1 2 0 0 0 2 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.142 0.044 Q Gln CAG 0.744 R Arg CGG 0.207 441 12 2 Chimp 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 246.14 0.00 Tolerated 0.64 III.25 187 PASS . . . . . . . . . . . ENSG00000178115:ENST00000562783:exon15:c.A1322G:p.Q441R . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.002 . @ . . . . . 3 0.004 . . 62.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5724 -0.260 -0.572 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.210 . . exonic upstream\x3bdownstream intergenic . . 0.077 @ . . . 0.23 0.12 182 ENSG00000178115 . . . . dist\x3d146828\x3bdist\x3d11467 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 . . . . . . 0 . . . . . . . . . . . . . 0.021 . . . . . 0.109 . 0.195 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.015 . . . . 0 0 . . . 0 0 0 0.0294 0.0094 0.0370 0 0 0.0045 0.0058 0.05 . . 0.246 . . . . . . . . 1.0E-187 0.000 0.063 . 0.043 0.014 . 0.042 . 0.002 . -0.531 . rs1294124 rs1294124 rs295712 rs113064986 1 1538 10 1/0 0,249,255 +. 15 30854036 C G - GOLGA8Q 44408 Golgin A8 family member Q NM_001355476.1 1 1899 1899 NP_001342405.1 F8WBI6 substitution intron GRCh37 30854036 30854036 Chr15(GRCh37):g.30854036C>G 1469+24 1469+24 NM_001355476.1:c.1469+24C>G p.? p.? 16 16 24 5' 70.4593 7.67679 0.862374 8.09257 70.4593 7.67679 0.862374 8.38288 0 transversion C G C>G 0.016 0.528 179 PASS . . . . . . . . . . . . . . . . 0.1119403 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 134.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream\x3bdownstream intergenic . . . @ . . . . . . ENSG00000221593 . . . . dist\x3d147573\x3bdist\x3d10722 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +. 15 30854544 C G - GOLGA8Q 44408 Golgin A8 family member Q NM_001355476.1 1 1899 1899 NP_001342405.1 F8WBI6 substitution missense exon GRCh37 30854544 30854544 Chr15(GRCh37):g.30854544C>G 1739 1739 NM_001355476.1:c.1739C>G p.Thr580Ser p.Thr580Ser 19 16 3' 71.0765 X.84 0.941776 VIII.95 71.0765 X.84 0.924405 8.39832 -0.00614831 Cryptic Donor Strongly Activated 30854539 5.56535 0.097358 74.1084 8.70331 0.976433 86.8044 0.001573 0.010840 0.000416 0.000000 0.002191 0.000882 0.000871 0.000000 0.000000 0.010840 18 8 1 0 5 1 3 0 0 11440 738 2404 112 2282 1134 3444 956 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 8 1 0 5 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.283 -0.360 T Thr ACC 0.361 S Ser AGC 0.243 580 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 1 III.18 178 PASS . . . . . . . . . . . ENSG00000178115:ENST00000562783:exon19:c.C1739G:p.T580S . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.013 . @ . . . . . 3 0.039 . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4362 -0.237 -0.436 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.190 . . exonic downstream intergenic . . 0.181 @ . . . . . . ENSG00000178115 . . . . dist\x3d148081\x3bdist\x3d10214 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . 0 . . . . . . . . . . . . . 0.010 . . . . . 0.124 . 0.003 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . 0.0192 0.0015 0.0005 0 0.0019 0 0.0022 0 0.0009 0.0095 0.0017 0 0 0.0028 0 0.0004 0 . . 0.246 . . . . . . . . 1.0E-178 0.867 0.305 . 0.108 0.192 . 0.151 . 0.075 . -0.041 . rs62016495 rs62016495 rs62016495 rs62016495 1 1538 10 1/0 0,253,255 +. 15 30900208 T C - GOLGA8H 37443 Golgin A8 family, member H NM_001282490.1 1 5261 1899 NP_001269419.1 P0CJ92 substitution intron GRCh37 30900208 30900208 Chr15(GRCh37):g.30900208T>C 310-25 310-25 NM_001282490.1:c.310-25T>C p.? p.? 5 4 -25 3' 79.5333 11.1638 0.973755 11.1594 79.5333 11.1638 0.973755 XI.57 0 30900210 -24.7594 0.000053 0.000071 0.000000 0.000000 0.000000 0.000383 0.000024 0.000000 0.000000 0.000383 5 1 0 0 0 3 1 0 0 94220 14060 12160 2304 9220 7834 41412 4550 2680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.807 0.125 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||GOLGA8H|mRNA|CODING|NM_001282490|) . . . . . . . 0.0878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intronic . . . @ . . . 0.5 0.32 182 ENSG00000270016 . GOLGA8H . dist\x3d1139\x3bdist\x3d5928 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.231e-05 0 0 0 0 3.697e-05 0 0.0004 0.0001 3.331e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs4042398 rs4042398 rs4042398 rs4042398 1 1538 10 1/0 0,247,255 +. 15 30905497 G A - GOLGA8H 37443 Golgin A8 family, member H NM_001282490.1 1 5261 1899 NP_001269419.1 P0CJ92 substitution intron GRCh37 30905497 30905497 Chr15(GRCh37):g.30905497G>A 1368+99 1368+99 NM_001282490.1:c.1368+99G>A p.? p.? 15 15 99 5' 81.0413 8.27203 0.900361 7.63627 81.0413 8.27203 0.900361 7.63627 0 transition G A G>A 0.291 0.125 210 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||GOLGA8H|mRNA|CODING|NM_001282490|) . . . . . . . -0.2933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream intronic . . . @ . . . . . . ENSG00000261794 JB175342 GOLGA8H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 15 30906543 A AG - GOLGA8H 37443 Golgin A8 family, member H NM_001282490.1 1 5261 1899 NP_001269419.1 P0CJ92 duplication intron GRCh37 30906548 30906549 Chr15(GRCh37):g.30906548dup 1724-41 1724-41 NM_001282490.1:c.1724-41dup p.? p.? 19 18 -40 3' 71.0765 XI.88 0.905549 9.57235 71.0765 XI.88 0.905549 9.0108 0 0.000114 0.000000 0.000000 0.000000 0.000000 0.001155 0.000064 0.000000 0.000000 0.001155 9 0 0 0 0 7 2 0 0 78670 13058 11480 1456 8994 6060 31226 4062 2334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 0 0 7 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.13636364 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 88 . . INTRON(MODIFIER||||GOLGA8H|mRNA|CODING|NM_001282490|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intronic . . . . . . . . . . ENSG00000261794 JB175342 GOLGA8H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0001 0 0.0012 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,87 +. 15 32449874 CTG C - CHRNA7 1960 Cholinergic receptor, nicotinic, alpha 7 (neuronal) NM_001190455.2 1 3433 1596 NP_001177384.1 deletion frameshift exon GRCh37 32449875 32449876 Chr15(GRCh37):g.32449875_32449876del 584 585 NM_001190455.2:c.584_585del p.Leu195Glnfs*41 p.Leu195Glnfs*41 6 118511 67 3' 76.1903 6.17035 0.716554 4.24287 76.1903 6.17035 0.716554 4.83147 0 Neurotransmitter-gated ion-channel ligand-binding Neurotransmitter-gated ion-channel rs67158670 yes no Frequency 1 0.000000 0 0.000033 0.000000 0.000078 0.000000 0.000132 0.000000 0.000026 0.000000 0.000000 0.000132 6 0 2 0 2 0 2 0 0 181212 10490 25766 6634 15174 24118 77026 18098 3906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 2 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Exomes 4303 2221 6524 19 3 22 0.00439611 0.00134892 0.00336083 0.00439611 0.00134892 0.00336083 13 COSM5002498|COSM5002498 Pancreas|Large intestine 0.000569|0.000448 1758|2231 TG 255 Pass . . . . . . . . . . . . . . . . 0.16129032 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 93 . . . 0.0016 0.0048 0.0064 0.0013 0.0034 0.0044 . . . . . . . . . . 6.606e-05 . . . 0 5.432e-05 0.0001 0 0 8.389e-05 0 0 0 3.138e-05 0.0001 0 0 3.275e-05 0 0 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175344 CHRNA7 CHRNA7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374603734 . . . . . . . . . . . . . . . . . . . . . . . 0.004751 . . . . . 0 3.311e-05 7.762e-05 0 0.0001 0 2.597e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0064 . rs67158670 rs67158670 rs374603734 1 1538 10 1.I 0,6,79 +. 15 32451755 G GTGT - CHRNA7 1960 Cholinergic receptor, nicotinic, alpha 7 (neuronal) NM_001190455.2 1 3433 1596 NP_001177384.1 duplication intron GRCh37 32451759 32451760 Chr15(GRCh37):g.32451757_32451759dup 881-13 881-11 NM_001190455.2:c.881-13_881-11dup p.? p.? 8 7 118511 -10 3' 87.7968 X.99 0.933165 5.75852 87.7968 X.39 0.921564 8.26028 -0.011456 rs368526087 yes no Frequency 1 0.000000 0 0.000871 0.000481 0.003240 0.000518 0.001716 0.000354 0.000250 0.000000 0.000964 0.003240 74 6 41 1 14 2 8 0 2 84932 12476 12654 1932 8158 5642 31962 10034 2074 0.000047 0.000000 0.000000 0.000000 0.000245 0.000000 0.000063 0.000000 0.000000 2 0 0 0 1 0 1 0 0 70 6 41 1 12 2 6 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4652 2622 7274 22 12 34 0.00470689 0.00455581 0.00465244 0.00470689 0.00455581 0.00465244 7 GTT 255 Pass . . . . . . . . . . . . . . . . 0.25 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 84 . . . 0.0039 0.0049 0.0054 0.0046 0.0047 0.0047 . . . . . . . . . . 4.989e-04 . . . 0.0013 0.0023 0.0291 0.0056 0 0 0 0 0.0009 0.0042 0.0365 0.0120 0 0 0 0 . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000175344 DKFZp434L187 CHRNA7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368526087 . . . . . . . . . . . . . . . . . . . . . . . 0.004859 . . . . . 0.0007 0.0010 0.0033 0.0006 0.0016 0 0.0003 0.0012 0.0004 0.0002 0.0003 0.0022 0 0.0028 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0054 . rs57851846 rs57851846 rs57851846 1 1538 10 1.I 0,9,60 +. 15 32686256 T C - GOLGA8K 38652 Golgin A8 family, member K NM_001282493.1 -1 5188 1893 NP_001269422.1 substitution intron GRCh37 32686256 32686256 Chr15(GRCh37):g.32686256T>C 1365+90 1365+90 NM_001282493.1:c.1365+90A>G p.? p.? 15 15 90 5' 81.0413 8.27203 0.900361 7.26011 81.0413 8.27203 0.900361 7.26011 0 transition A G A>G 0.016 1.093 187 PASS . . . . . . . . . . . . . . . . 0.12790698 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||GOLGA8K|mRNA|CODING|NM_001282493|) . . . . . . . -0.0924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000249931 . GOLGA8K . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs112987997 rs112987997 1 1538 10 1/0 0,235,255 +. 15 32691512 A G - GOLGA8K 38652 Golgin A8 family, member K NM_001282493.1 -1 5188 1893 NP_001269422.1 substitution intron GRCh37 32691512 32691512 Chr15(GRCh37):g.32691512A>G 310-25 310-25 NM_001282493.1:c.310-25T>C p.? p.? 5 4 -25 3' 79.5333 11.1638 0.973755 X.83 79.5333 11.1638 0.973755 XI.46 0 32691510 -24.7594 transition T C T>C 0.024 1.013 252 PASS . . . . . . . . . . . . . . . . 0.31182796 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||GOLGA8K|mRNA|CODING|NM_001282493|) . . . . . . . 0.0189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.4 0.21 182 ENSG00000215304 ULK4P3 GOLGA8K . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs4042398 rs4042398 rs4042398 rs4042398 1 1538 10 1/0 0,248,255 +. 15 32737467 G C - GOLGA8O 44406 Golgin A8 family, member O NM_001277308.1 -1 5189 1899 NP_001264237.1 A6NCC3 substitution missense exon GRCh37 32737467 32737467 Chr15(GRCh37):g.32737467G>C 1739 1739 NM_001277308.1:c.1739C>G p.Thr580Ser p.Thr580Ser 19 16 3' 71.0765 X.84 0.941776 8.51357 71.0765 X.84 0.924405 8.51238 -0.00614831 Cryptic Donor Strongly Activated 32737472 5.56535 0.097358 74.1084 8.70331 0.976433 86.8044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.535 -0.037 T Thr ACC 0.361 S Ser AGC 0.243 580 15 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 1 II.99 238 PASS . . . . . . . . . . . ENSG00000206127:ENST00000509311:exon19:c.C1739G:p.T580S GOLGA8O:uc031qrg.1:exon19:c.C1739G:p.T580S GOLGA8O:NM_001277308:exon19:c.C1739G:p.T580S . . 0.26744187 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.057 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T580S|GOLGA8O|mRNA|CODING|NM_001277308|NM_001277308.ex.19) . . . . . . . -1.0306 -1.139 -1.031 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.228 @ . . . 0.35 0.27 182 ENSG00000206127 GOLGA8O GOLGA8O . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.073 . . 0.393 . . . 0.000 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.187 . 0.026 . HET 1 . . . . . . . . . . . . . 6.012 . ENST00000509311 I.63 I.63 . 1.000000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.281 0.281000 . . 1.000000 . . 1.0E-238 0.923 0.318 . 0.140 0.606 . 0.088 . 0.007 0.281 0.005 . rs62016495 rs62016495 rs62016495 rs62016495 1 1538 10 1/0 0,247,255 +rs879380608 15 32741004 A C - GOLGA8O 44406 Golgin A8 family, member O NM_001277308.1 -1 5189 1899 NP_001264237.1 A6NCC3 substitution missense exon GRCh37 32741004 32741004 Chr15(GRCh37):g.32741004A>C 970 970 NM_001277308.1:c.970T>G p.Ser324Ala p.Ser324Ala 12 96 3' 83.4217 8.54287 0.933794 7.27205 83.4217 8.54287 0.933794 7.27205 0 rs879380608 no no 0 A 0.000000 0 transversion T G T>G 0.976 0.044 S Ser TCC 0.220 A Ala GCC 0.403 324 15 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 1 II.99 255 PASS . . . . . . . . . . . . . GOLGA8O:NM_001277308:exon12:c.T970G:p.S324A . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.027 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S324A|GOLGA8O|mRNA|CODING|NM_001277308|NM_001277308.ex.12) . . . . . . . -1.2984 -1.335 -1.298 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.167 @ . . . 0.43 0.36 182 ENSG00000206127 GOLGA8O GOLGA8O . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.958 0.548 . . 37 . 0.038 . . 0.428 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.263 . 0.026 . HET 1 . . . . . . . . . . . . . VII.43 . . I.63 0.608 . 1.000000 . . . . . . 0.015 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.112 -0.112000 . . 1.000000 . . 1.0E-255 0.788 0.293 . 0.062 0.012 . 0.294 . 0.091 -0.112 0.005 . rs28447107 rs28447107 rs28447107 rs28447107 1 1538 10 1/0 0,255,255 +. 15 32741043 G C - GOLGA8O 44406 Golgin A8 family, member O NM_001277308.1 -1 5189 1899 NP_001264237.1 A6NCC3 substitution missense exon GRCh37 32741043 32741043 Chr15(GRCh37):g.32741043G>C 931 931 NM_001277308.1:c.931C>G p.Leu311Val p.Leu311Val 12 57 3' 83.4217 8.54287 0.933794 7.27205 83.4217 8.54287 0.933794 VII.53 0 New Donor Site 32741044 V.85 0.37179 77.3078 transversion C G C>G 0.472 1.900 L Leu CTG 0.404 V Val GTG 0.468 311 15 13 Coelacanth 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Deleterious 0 II.99 217 PASS . . . . . . . . . . . . . GOLGA8O:NM_001277308:exon12:c.C931G:p.L311V . . 0.20754717 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.388 . @ . . . . . 1 0.723 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L311V|GOLGA8O|mRNA|CODING|NM_001277308|NM_001277308.ex.12) . . . . . . . -0.2451 -0.434 -0.245 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.382 . . exonic exonic exonic . . 0.228 @ . . . . . . ENSG00000206127 GOLGA8O GOLGA8O . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.932 0.390 . . 37 . 0.506 . . 0.435 . . . 0.842 0.247 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.403 . . . . . 0.372 . 0.241 . HET 0 . . . . . . . . . . . . . IX.23 . . I.63 I.63 . 0.000000 . . . . . . 0.330 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 1.250 1.250000 . . 0.000000 . . 1.0E-217 0.993 0.376 . 0.062 0.007 . 0.429 . 0.290 1.250 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 15 32888677 T C - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32888677 32888677 Chr15(GRCh37):g.32888677T>C 229-43 229-43 NM_001282494.1:c.229-43T>C p.? p.? 4 3 -43 3' 72.9796 6.50556 0.311358 5.57737 72.9796 6.50556 0.311358 5.90236 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 0 12 0 2 28 0 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.472 -0.117 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . -0.3707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.47 0.36 182 ENSG00000232653 AK310041 GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . . 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2648139 rs2648139 rs2648139 rs2648139 1 1538 10 1/0 0,234,255 +. 15 32888698 C T - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32888698 32888698 Chr15(GRCh37):g.32888698C>T 229-22 229-22 NM_001282494.1:c.229-22C>T p.? p.? 4 3 -22 3' 72.9796 6.50556 0.311358 5.57737 72.9796 6.50556 0.311358 5.29356 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 0 14 0 4 26 0 0 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1704 Exomes transition C T C>T 0.992 1.820 200 PASS . . . . . . . . . . . . . . . . 0.16091955 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . 0.3717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.44 0.3 182 ENSG00000232653 AK310041 GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . . 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs4283193 rs4283193 rs4283193 rs4283193 1 1538 10 1/0 0,237,255 +. 15 32891972 G C - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution missense exon GRCh37 32891972 32891972 Chr15(GRCh37):g.32891972G>C 835 835 NM_001282494.1:c.835G>C p.Glu279Gln p.Glu279Gln 11 -40 5' 81.5823 8.90513 0.917225 7.80481 81.5823 8.90513 0.917225 7.93941 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.929 -0.037 E Glu GAG 0.583 Q Gln CAG 0.744 279 15 11 Coelacanth 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 240.48 0.00 Tolerated 0.15 II.99 176 PASS . . . . . . . . . . . . LOC643699:uc010ubv.2:exon1:c.G16C:p.E6Q GOLGA8N:NM_001282494:exon11:c.G835C:p.E279Q . . 0.104166664 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.046 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E279Q|GOLGA8N|mRNA|CODING|NM_001282494|NM_001282494.ex.11) . . . . . . . -0.8797 -1.071 -0.880 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.276 . . exonic exonic exonic . . 0.090 @ . . . 0.45 0.31 182 ENSG00000232653 LOC643699 GOLGA8N . . . 0.076 0.157 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.244 . . 0.325 . . . 0.604 0.270 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.336 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.491 . . . . . 0.042 . 0.137 . LowAF 0.02 . . . . . . . ID\x3dCOSM1600045\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . II.12 . . 0.593 -1.19 . 0.050000 . . . . . . 0.269 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.202 -0.202000 . . 0.050000 . . 1.0E-176 0.999 0.424 . 0.062 0.282 . 0.393 . 0.007 -0.202 0.693 . . . rs67450559 rs67450559 1 1538 10 1/0 0,255,255 +. 15 32892444 C G - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution missense exon GRCh37 32892444 32892444 Chr15(GRCh37):g.32892444C>G 931 931 NM_001282494.1:c.931C>G p.Leu311Val p.Leu311Val 12 57 3' 83.4217 8.54287 0.933794 7.27205 83.4217 8.54287 0.933794 VII.53 0 New Donor Site 32892443 V.85 0.37179 77.3078 transversion C G C>G 0.480 1.255 L Leu CTG 0.404 V Val GTG 0.468 311 15 12 Coelacanth 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Deleterious 0 II.99 242 PASS . . . . . . . . . . . . LOC643699:uc010ubv.2:exon2:c.C112G:p.L38V GOLGA8N:NM_001282494:exon12:c.C931G:p.L311V . . 0.2857143 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.386 . @ . . . . . 1 0.640 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L311V|GOLGA8N|mRNA|CODING|NM_001282494|NM_001282494.ex.12) . . . . . . . -0.5498 -0.756 -0.550 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.382 . . exonic exonic exonic . . 0.168 @ . . . . . . ENSG00000232653 LOC643699 GOLGA8N . . . 0.187 0.180 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.358 . . 0.342 . . . 0.842 0.233 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.405 . . . . . 0.241 . 0.149 . HET 0.01 . . . . . . . . . . . . . 7.0502 . . 0.633 0.633 . 0.000000 . . . . . . 0.219 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.606 0.606000 . . 0.000000 . . 1.0E-242 0.929 0.320 . 0.135 0.031 . 0.345 . 0.275 0.606 0.642 . . . . . 1 1538 10 1/0 0,255,255 +. 15 32892483 T G - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution missense exon GRCh37 32892483 32892483 Chr15(GRCh37):g.32892483T>G 970 970 NM_001282494.1:c.970T>G p.Ser324Ala p.Ser324Ala 12 96 3' 83.4217 8.54287 0.933794 7.27205 83.4217 8.54287 0.933794 7.27205 0 transversion T G T>G 0.504 -1.409 S Ser TCC 0.220 A Ala GCC 0.403 324 15 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 1 II.99 255 PASS . . . . . . . . . . . . LOC643699:uc010ubv.2:exon2:c.T151G:p.S51A GOLGA8N:NM_001282494:exon12:c.T970G:p.S324A . . 0.61904764 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.008 . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S324A|GOLGA8N|mRNA|CODING|NM_001282494|NM_001282494.ex.12) . . . . . . . -1.1769 -1.349 -1.177 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.096 @ . . . 0.42 0.45 182 ENSG00000232653 LOC643699 GOLGA8N . . . 0.247 0.186 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.047 . . 0.461 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.188 . 0.031 . HET 1 . . . . . . . . . . . . . 6.0411 . . 0.633 -0.998 . 1.000000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -1.649 -1.649000 . . 1.000000 . . 1.0E-255 0.995 0.385 . 0.108 0.017 . 0.343 . 0.050 -1.649 -0.960 . rs28447107 rs28447107 rs28447107 rs28447107 1 1538 10 1/0 0,255,255 +. 15 32894301 C T - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32894301 32894301 Chr15(GRCh37):g.32894301C>T 1276+12 1276+12 NM_001282494.1:c.1276+12C>T p.? p.? 14 14 12 5' 83.8893 X.72 0.713715 6.73406 83.8893 X.72 0.713715 6.25429 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.008 -0.360 191 PASS . . . . . . . . . . . . . . . . 0.13709678 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . -0.4194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intronic . . . @ . . . 0.59 0.14 182 ENSG00000232653 DQ572979 GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs62002972 rs62002972 rs798090 rs62002972 1 1538 10 1/0 0,221,255 +. 15 32894824 T TC - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 duplication intron GRCh37 32894829 32894830 Chr15(GRCh37):g.32894829dup 1368+17 1368+17 NM_001282494.1:c.1368+17dup p.? p.? 15 15 17 5' 81.0413 8.27203 0.900361 7.26011 81.0413 8.27203 0.900361 7.59523 0 0.000619 0.000000 0.000000 0.000000 0.000000 0.000000 0.001706 0.000000 0.000000 0.001706 2 0 0 0 0 0 2 0 0 3230 466 116 36 96 0 1172 1222 122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 70 Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.2254902 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 102 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . . . . . . . . ENSG00000232653 . GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0 0.0017 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs5811602 rs5811602 rs5811602 1 1538 10 1.I 0,8,65 +rs112987997 15 32894902 A G - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32894902 32894902 Chr15(GRCh37):g.32894902A>G 1368+90 1368+90 NM_001282494.1:c.1368+90A>G p.? p.? 15 15 90 5' 81.0413 8.27203 0.900361 7.26011 81.0413 8.27203 0.900361 7.26011 0 rs112987997 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182 56 0 4 4 0 98 8 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 431 Genomes transition A G A>G 0.000 -0.360 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . -0.5753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . 0.28 0.06 182 ENSG00000232653 . GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112987997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs4102151 rs4102151 rs4102151 rs112987997 1 1538 10 1/0 0,220,255 +rs199840818 15 32895511 C G - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32895511 32895511 Chr15(GRCh37):g.32895511C>G 1469+24 1469+24 NM_001282494.1:c.1469+24C>G p.? p.? 16 16 24 5' 70.4593 7.67679 0.862374 8.09257 70.4593 7.67679 0.862374 8.38288 0 rs199840818 yes no Frequency 1 0.000000 0 0.004623 0.001566 0.015363 0.000000 0.000000 0.000000 0.006841 0.003284 0.005734 0.015363 131 13 11 0 0 0 91 11 5 28334 8300 716 220 1574 0 13302 3350 872 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 13 11 0 0 0 91 11 5 0 0 0 0 0 0 0 0 0 RF 32 Genomes transversion C G C>G 0.000 0.286 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 165.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . -0.4067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intronic . . . @ . . . 0.69 0.3 182 ENSG00000221405 . GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199840818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0046 0.0154 0 0 0.0033 0.0068 0.0057 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs199840818 rs199840818 1 1538 10 1/0 0,208,255 +rs183464547 15 33952400 C T - RYR3 10485 Ryanodine receptor 3 NM_001036.4 1 15574 14613 NP_001027.3 Q15413 substitution synonymous exon GRCh37 33952400 33952400 Chr15(GRCh37):g.33952400C>T 4398 4398 NM_001036.4:c.4398C>T p.Asn1466= p.Asn1466Asn 34 180903 3 3' 71.2148 6.39792 0.203597 8.21058 71.2148 5.96459 0.147881 7.88594 -0.113796 Cryptic Acceptor Weakly Activated 33952417 0.727516 0.002699 71.0928 0.787492 0.006192 71.0928 B30.2/SPRY domain rs183464547 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000088 0.000061 0.000162 0.000000 0.000000 0.000000 0.000137 0.000000 0.000205 0.000162 16 1 4 0 0 0 10 0 1 182480 16430 24746 8526 11868 22748 73044 20236 4882 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 1 4 0 0 0 10 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8101 4046 12147 1 0 1 0.000123426 0 8.23181e-05 0.000123426 0 8.23181e-05 35 COSM5962348|COSM5962348 Large intestine|Breast 0.000418|0.000408 2391|2453 transition C T C>T 0.646 -0.521 N Asn AAC 0.536 N Asn AAT 0.464 1466 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.47674417 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.3653 . . . . . . . . 4.233e-05 . . . 0 5.121e-05 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.25 0.26 182 ENSG00000198838 RYR3 RYR3 . . . . . . 14 0.000215464 64976 13 0.000216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183464547 . . . . . . . . . . . . . . . . . . . . . . . 0.000082 . . . . . 0 9.24e-05 0.0002 0 0 0 0.0002 0 0 0.0001 6.457e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs183464547 rs183464547 1 1538 10 1/0 0,234,253 +rs2258704 15 34675050 C T - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 substitution missense exon GRCh37 34675050 34675050 Chr15(GRCh37):g.34675050C>T 1055 1055 NM_181077.3:c.1055G>A p.Arg352Gln p.Arg352Gln 11 616180 -53 5' 77.0459 6.28946 0.054854 7.71968 77.0459 6.28946 0.054854 7.56215 0 rs2258704 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM6385676 Thyroid 0.001339 747 transition G A G>A 0.000 -1.328 R Arg CGG 0.207 Q Gln CAG 0.744 352 12 8 Zebrafish 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.65 0.00 Tolerated 0.17 III.23 good 8.764E-1 0.001752 255 PASS . . . . . . . . . . . . . GOLGA8A:NM_181077:exon11:c.G1055A:p.R352Q . . 0.64102566 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.039 . . 39.0 . . . . . . . . . . -1.9460 -1.940 -1.946 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.103 @ . . . 0.47 0.24 182 ENSG00000175265 GOLGA8A GOLGA8A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.056 . . 0.336 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.126 . . 0.013 . . . . . . 0 0.056 . . . . . 0.146 . 0.052 . HET 1 rs2258704 . . . . . . . . . . . . V.01 . . 0.514 -0.793 . 1.000000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -1.309 -1.309000 . . 1.000000 . . 1.0E-255 0.007 0.175 . 0.043 0.027 . 0.133 . 0.023 -1.309 -1.906 . rs2258704 rs2258704 rs2258704 rs139649912 1 1538 10 1/0 0,255,255 +rs2258704 15 34675050 C T - MIR1233-1 33929 MicroRNA 1233-1 NR_036050.1 -1 82 0 substitution upstream GRCh37 34675050 34675050 Chr15(GRCh37):g.34675050C>T -699 -699 NR_036050.1:n.-699G>A p.? p.? 1 rs2258704 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM6385676 Thyroid 0.001339 747 transition G A G>A 0.000 -1.328 255 PASS . . . . . . . . . . . . . GOLGA8A:NM_181077:exon11:c.G1055A:p.R352Q . . 0.64102566 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.039 . . 39.0 . . . . . . . . . . -1.9460 -1.940 -1.946 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.103 @ . . . 0.47 0.24 182 ENSG00000175265 GOLGA8A GOLGA8A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.056 . . 0.336 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.126 . . 0.013 . . . . . . 0 0.056 . . . . . 0.146 . 0.052 . HET 1 rs2258704 . . . . . . . . . . . . V.01 . . 0.514 -0.793 . 1.000000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -1.309 -1.309000 . . 1.000000 . . 1.0E-255 0.007 0.175 . 0.043 0.027 . 0.133 . 0.023 -1.309 -1.906 . rs2258704 rs2258704 rs2258704 rs139649912 1 1538 10 1/0 0,255,255 +rs2258704 15 34675050 C T - MIR1233-2 38277 MicroRNA 1233-2 NR_036261.1 -1 82 0 substitution upstream GRCh37 34675050 34675050 Chr15(GRCh37):g.34675050C>T -699 -699 NR_036261.1:n.-699G>A p.? p.? 1 rs2258704 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM6385676 Thyroid 0.001339 747 transition G A G>A 0.000 -1.328 255 PASS . . . . . . . . . . . . . GOLGA8A:NM_181077:exon11:c.G1055A:p.R352Q . . 0.64102566 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.039 . . 39.0 . . . . . . . . . . -1.9460 -1.940 -1.946 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.103 @ . . . 0.47 0.24 182 ENSG00000175265 GOLGA8A GOLGA8A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.056 . . 0.336 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.126 . . 0.013 . . . . . . 0 0.056 . . . . . 0.146 . 0.052 . HET 1 rs2258704 . . . . . . . . . . . . V.01 . . 0.514 -0.793 . 1.000000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -1.309 -1.309000 . . 1.000000 . . 1.0E-255 0.007 0.175 . 0.043 0.027 . 0.133 . 0.023 -1.309 -1.906 . rs2258704 rs2258704 rs2258704 rs139649912 1 1538 10 1/0 0,255,255 +. 15 34677275 C T - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 substitution missense exon GRCh37 34677275 34677275 Chr15(GRCh37):g.34677275C>T 541 541 NM_181077.3:c.541G>A p.Ala181Thr p.Ala181Thr 7 616180 -27 5' 83.6222 7.93332 0.957195 5.13707 83.6222 7.93332 0.957195 4.79254 0 0.001109 0.000000 0.001768 0.000000 0.001279 0.002664 0.000118 0.000000 0.004373 0.002664 24 0 6 0 5 9 1 0 3 21642 1064 3394 446 3908 3378 8454 312 686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 0 6 0 5 9 1 0 3 0 0 0 0 0 0 0 0 0 RF 42 Exomes COSM5821603 Liver 0.001265 2371 transition G A G>A 0.000 -0.682 A Ala GCC 0.403 T Thr ACC 0.361 181 12 3 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 1 III.33 bad 1.194E-5 2.111E-5 255 PASS . . . . . . . . . . . . . GOLGA8A:NM_181077:exon7:c.G541A:p.A181T . . 0.3846154 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.030 . . 78.0 . . . . . . . . . . -1.3436 -1.486 -1.344 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.100 . . exonic exonic exonic . . 0.104 @ . . . . . . ENSG00000175265 GOLGA8A GOLGA8A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.054 . . 0.401 . . . 0.289 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.318 . . 0.240 . . . . . . 0 0.049 . . . . . . . 0.127 . HET 0.54 . . . . . . . . . . . . . . . . 0.379 -0.758 . 1.000000 . . . . . . 0.004 . . . 0 0.0011 0.0018 0 0.0013 0 0.0001 0.0044 0.0027 . . . . . . . . . . 0.558 . -0.704 -0.704000 . . 1.000000 . . 1.0E-255 0.216 0.243 . 0.062 0.042 . 0.164 . 0.247 -0.704 0.057 . . . . . 1 1538 10 1/0 0,255,255 +rs9959 15 34680037 C T - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 substitution synonymous exon GRCh37 34680037 34680037 Chr15(GRCh37):g.34680037C>T 165 165 NM_181077.3:c.165G>A p.Glu55= p.Glu55Glu 2 616180 -4 5' 71.0537 7.38896 0.415428 7.86705 71.0537 7.38896 0.752704 8.58396 0.270625 New Acceptor Site 34680035 3.53038 0.002731 68.5245 rs9959 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM5428337 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.008 -1.086 E Glu GAG 0.583 E Glu GAA 0.417 55 255 PASS . . . . . . . . . . . . GOLGA8A:uc001zii.3:exon2:c.G165A:p.E55E GOLGA8A:NM_181077:exon2:c.G165A:p.E55E . . 0.6964286 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 56.0 . . . . . . . . . . -0.5061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.71 0.59 182 ENSG00000175265 GOLGA8A GOLGA8A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9959 rs9959 rs9959 rs141305972 1 1538 10 1/0 0,255,255 +. 15 34681761 G T - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 substitution intron GRCh37 34681761 34681761 Chr15(GRCh37):g.34681761G>T 48+84 48+84 NM_181077.3:c.48+84C>A p.? p.? 1 1 616180 84 5' 82.523 9.06409 0.978786 7.24418 82.523 9.06409 0.978786 7.24418 0 transversion C A C>A 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.5934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000175265 GOLGA8A GOLGA8A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 34681791 CGTCG C - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 deletion intron GRCh37 34681792 34681795 Chr15(GRCh37):g.34681792_34681795del 48+50 48+53 NM_181077.3:c.48+50_48+53del p.? p.? 1 1 616180 50 5' 82.523 9.06409 0.978786 7.24418 82.523 9.06409 0.978786 7.69695 0 CGAC 255 Pass . . . . . . . . . . . . . . . . 0.40350878 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000175265 GOLGA8A GOLGA8A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,39 +rs138276220 15 34821271 C T - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution missense exon GRCh37 34821271 34821271 Chr15(GRCh37):g.34821271C>T 1055 1055 NM_001023567.4:c.1055G>A p.Arg352Gln p.Arg352Gln 11 609619 -53 5' 77.0459 6.28946 0.054854 7.71968 77.0459 6.28946 0.054854 7.56215 0 rs138276220 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.992 0.528 R Arg CGG 0.207 Q Gln CAG 0.744 352 12 8 Zebrafish 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.65 0.00 Tolerated 0.17 III.23 good 8.532E-1 0.001761 255 PASS . . . . . . . . . . . . . GOLGA8B:NM_001023567:exon11:c.G1055A:p.R352Q . . 0.54761904 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.165 . . 42.0 . . . . . . . . . . -1.9074 -1.814 -1.907 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.157 @ . . . 0.44 0.31 182 ENSG00000215252 GOLGA8B GOLGA8B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.394 0.017 . . 37 . 0.060 . . 0.385 . . . 0.001 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.026 . . . . . 0.107 . 0.049 . HET 1 rs138276220 . . . . . . . . . . . . IV.63 . . I.41 0.433 . 1.000000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.159 0.159000 . . 1.000000 . . 1.0E-255 0.911 0.315 . 0.016 0.175 . 0.160 . 0.015 0.159 0.006 . rs2258704 rs2258704 rs2258704 rs138276220 1 1538 10 1/0 0,255,255 +. 15 34822329 C G - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution intron GRCh37 34822329 34822329 Chr15(GRCh37):g.34822329C>G 654+54 654+54 NM_001023567.4:c.654+54G>C p.? p.? 9 8 609619 -54 3' 78.1151 VI.92 0.749076 7.38538 78.1151 VI.92 0.749076 7.27693 0 transversion G C G>C 0.008 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.47058824 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 102.0 . . . . . . . . . . 0.0264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.38 182 . GOLGA8B GOLGA8B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3816947 rs3816947 rs3816947 rs3816947 1 1538 10 1/0 0,255,255 +rs765375876 15 34824195 T C - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution synonymous exon GRCh37 34824195 34824195 Chr15(GRCh37):g.34824195T>C 291 291 NM_001023567.4:c.291A>G p.Gln97= p.Gln97Gln 4 609619 6 3' 79.5333 9.59466 0.948188 9.86484 79.5333 9.59466 0.944981 9.75543 -0.00112741 rs765375876 yes no Frequency 1 T 0.000000 0 0.000721 0.000190 0.001418 0.000000 0.000000 0.000000 0.001035 0.001063 0.000000 0.001418 37 2 15 0 0 0 18 2 0 51324 10506 10576 1568 3462 4536 17392 1882 1402 0.000156 0.000000 0.000189 0.000000 0.000000 0.000000 0.000230 0.001063 0.000000 4 0 1 0 0 0 2 1 0 29 2 13 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.732 -1.005 Q Gln CAA 0.256 Q Gln CAG 0.744 97 255 PASS . . . . . . . . . . . . GOLGA8B:uc001ziq.3:exon4:c.A291G:p.Q97Q GOLGA8B:NM_001023567:exon4:c.A291G:p.Q97Q . . 0.36585367 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 41.0 . . . . . . . . . . 0.1361 . . . . . . . . 2.804e-04 . . . 0 0.0011 0.0192 0 0 0 0 0 0 0.0063 0.0227 0 0 0 0.5 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.2 182 ENSG00000215252 GOLGA8B GOLGA8B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs765375876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0006 0.0014 0 0 0.0023 0.0007 0 0 0.0002 0.0011 0.0029 0 0 0 0.0032 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62017540 rs62017540 rs1137066 rs1137066 1 1538 10 1/0 0,255,255 +rs150525716 15 34826258 C T - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution synonymous exon GRCh37 34826258 34826258 Chr15(GRCh37):g.34826258C>T 165 165 NM_001023567.4:c.165G>A p.Glu55= p.Glu55Glu 2 609619 -4 5' 71.0537 7.38896 0.415428 7.86705 71.0537 7.38896 0.752704 8.58396 0.270625 New Acceptor Site 34826256 3.53038 0.002731 68.5245 rs150525716 no no 0 C 0.000000 0 transition G A G>A 0.390 1.174 E Glu GAG 0.583 E Glu GAA 0.417 55 255 PASS . . . . . . . . . . . . GOLGA8B:uc001ziq.3:exon2:c.G165A:p.E55E GOLGA8B:NM_001023567:exon2:c.G165A:p.E55E . . 0.68421054 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . 0.1629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.3 182 ENSG00000215252 GOLGA8B GOLGA8B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150525716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9959 rs9959 rs9959 rs150525716 1 1538 10 1/0 0,255,255 +. 15 34827982 G T - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution intron GRCh37 34827982 34827982 Chr15(GRCh37):g.34827982G>T 48+84 48+84 NM_001023567.4:c.48+84C>A p.? p.? 1 1 609619 84 5' 82.523 9.06409 0.978786 7.24418 82.523 9.06409 0.978786 7.24418 0 transversion C A C>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.36585367 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.1954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . GOLGA8B GOLGA8B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 34828012 CGTCG C - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 deletion intron GRCh37 34828013 34828016 Chr15(GRCh37):g.34828013_34828016del 48+50 48+53 NM_001023567.4:c.48+50_48+53del p.? p.? 1 1 609619 50 5' 82.523 9.06409 0.978786 7.24418 82.523 9.06409 0.978786 7.69695 0 CGAC 255 Pass . . . . . . . . . . . . . . . . 0.33962265 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . GOLGA8B GOLGA8B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +rs370495874 15 40033977 T C - FSIP1 21674 Fibrous sheath interacting protein 1 NM_001324338.1 -1 2716 1746 NP_001311267.1 Q8NA03 substitution intron GRCh37 40033977 40033977 Chr15(GRCh37):g.40033977T>C 655+29 655+29 NM_001324338.1:c.655+29A>G p.? p.? 6 6 615795 29 5' 77.3681 7.84418 0.863633 0.825222 77.3681 7.84418 0.863633 0.969956 0 Cryptic Acceptor Weakly Activated 40033966 2.64725 0.000939 73.3374 2.80993 0.001114 73.4085 rs370495874 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001403 0.000518 0.000555 0.000000 0.000000 0.000035 0.002099 0.003359 0.000981 0.003359 364 12 18 0 0 1 248 79 6 259354 23164 32440 9664 17848 28428 118174 23518 6118 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000085 0.000000 2 0 0 0 0 0 1 1 0 360 12 18 0 0 1 246 77 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4401 12976 19 3 22 0.00221084 0.000681199 0.00169257 0.00221084 0.000681199 0.00169257 59 transition A G A>G 0.000 0.125 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.6216216 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||FSIP1|mRNA|CODING|NM_152597|) 0.0007 0.0017 0.0022 0.0007 0.0017 0.0022 . 0.2695 . . . . . . . . 1.398e-03 . . . 0.0006 0.0012 0.0008 0 0.0035 0.0019 0 8.063e-05 0.0004 0.0018 0.0008 0 0.0038 0.0028 0 8.105e-05 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.27 0.25 182 ENSG00000150667 FSIP1 FSIP1 . . . . . . 122 0.00187762 64976 120 0.00200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370495874 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832978 0.001693 . . . . . 0.0004 0.0014 0.0006 0 0 0.0034 0.0021 0.0012 3.518e-05 0.0007 0.0015 0 0 0 0.0029 0.0021 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0022 . . rs370495874 rs370495874 1 1538 10 1/0 0,255,255 +. 15 40645347 T TGA - PHGR1 37226 Proline/histidine/glycine-rich 1 NM_001145643.1 1 436 249 NP_001139115.1 C9JFL3 insertion intron GRCh37 40645348 40645349 Chr15(GRCh37):g.40645348_40645349insAG -111 -110 NM_001145643.1:c.-26-85_-26-84insAG p.? p.? 2 1 -84 3' 84.859 3.17268 0.601196 0 84.859 3.17268 0.601196 0 0 Cryptic Donor Strongly Activated 40645345 0.002345 53.37 2.61809 0.003628 64.1553 AG 255 Pass . . . . . . . . . . . . . . . . 0.4375 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . INTRON(MODIFIER||||PHGR1|mRNA|CODING|NM_001145643|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000233041 PHGR1 PHGR1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,36 +rs185769166 15 40681990 C G - KNSTRN 30767 Kinetochore-localized astrin/SPAG5 binding protein NM_033286.3 1 1757 951 NP_150628.3 Q9Y448 substitution intron GRCh37 40681990 40681990 Chr15(GRCh37):g.40681990C>G 592-47 592-47 NM_033286.3:c.592-47C>G p.? p.? 6 5 614718 -47 3' 76.5354 9.12785 0.713215 5.62218 76.5354 9.12785 0.713215 5.41759 0 New Donor Site 40681989 0.173929 0.027879 62.6753 rs185769166 yes no Frequency/1000G 2 C 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000743 0.000000 0.000000 0.000000 0.000000 0.000743 14 0 0 0 14 0 0 0 0 276430 23986 34386 10118 18850 30758 126154 25734 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 1.013 255 PASS . . . . . . . . . . . . . . . . 0.52747256 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . 0.1633 . . . . . . . . 5.578e-05 . . . 0 3.338e-05 0 0.0005 0 0 0 0 0 4.75e-05 0 0.0006 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.39 0.08 182 ENSG00000128944 KNSTRN KNSTRN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185769166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.V 0 5.296e-05 0 0 0.0008 0 0 0 0 0 3.228e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201510924 15 41625167 C T - NUSAP1 18538 Nucleolar and spindle associated protein 1 NM_016359.4 1 2454 1326 NP_057443.2 Q9BXS6 substitution synonymous exon GRCh37 41625167 41625167 Chr15(GRCh37):g.41625167C>T 12 12 NM_016359.4:c.12C>T p.Pro4= p.Pro4Pro 1 612818 -82 5' 74.9285 7.86086 0.745655 4.93754 74.9285 7.86086 0.745655 4.93754 0 Cryptic Acceptor Weakly Activated 41625177 1.12296 0.039406 76.6921 0.694417 0.047099 79.9748 rs201510924 yes no Frequency/1000G 2 C 0.000000 0 0.003594 0.000000 0.008200 0.000000 0.004000 0.008600 0.003624 0.001121 0.001508 0.007852 0.000054 0.003167 0.004844 0.004162 0.004088 0.007852 983 26 51 78 1 95 600 106 26 271282 23188 33826 9934 18648 29994 123864 25468 6360 0.000037 0.000000 0.000059 0.000000 0.000000 0.000000 0.000048 0.000079 0.000000 5 0 1 0 0 0 3 1 0 973 26 49 78 1 95 594 104 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8223 3809 12032 35 5 40 0.00423831 0.00131096 0.00331345 0.00423831 0.00131096 0.00331345 34 transition C T C>T 0.961 0.125 P Pro CCC 0.328 P Pro CCT 0.283 4 255 PASS . 0.0023 0.01 . 0.004 . 0.0036 0.0086 . 0.004 0.0082 . . . . . 0.4789916 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . 0.0013 0.0033 0.0042 0.0013 0.0033 0.0042 . II.78 . . . . . . . . 3.538e-03 . . . 0.0014 0.0043 0.0022 0 0.0056 0.0061 0.0041 0.0038 0.0013 0.0049 0.0022 0 0.0052 0.0070 0.0021 0.0039 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.59 0.61 182 ENSG00000137804 NUSAP1 NUSAP1 . . . . . . 266 0.00409382 64976 248 0.0041343 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201510924 . . . . . . . . . . . . . . . . . . . . . . . 0.003313 . . . . . 0.0008 0.0036 0.0015 0.0077 5.872e-05 0.0039 0.0048 0.0043 0.0032 0.0016 0.0039 0.0036 0.0132 0 0.0060 0.0051 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs201510924 rs201510924 1 1538 10 1/0 0,249,255 +rs201510924 15 41625167 C T - OIP5 20300 Opa interacting protein 5 NM_007280.1 -1 1236 690 NP_009211.1 O43482 substitution upstream GRCh37 41625167 41625167 Chr15(GRCh37):g.41625167C>T -408 -408 NM_007280.1:c.-408G>A p.? p.? 1 606020 -730 5' 74.5874 8.28108 0.936234 7.43039 74.5874 8.28108 0.936234 7.43039 0 rs201510924 yes no Frequency/1000G 2 C 0.000000 0 0.003594 0.000000 0.008200 0.000000 0.004000 0.008600 0.003624 0.001121 0.001508 0.007852 0.000054 0.003167 0.004844 0.004162 0.004088 0.007852 983 26 51 78 1 95 600 106 26 271282 23188 33826 9934 18648 29994 123864 25468 6360 0.000037 0.000000 0.000059 0.000000 0.000000 0.000000 0.000048 0.000079 0.000000 5 0 1 0 0 0 3 1 0 973 26 49 78 1 95 594 104 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8223 3809 12032 35 5 40 0.00423831 0.00131096 0.00331345 0.00423831 0.00131096 0.00331345 34 transition G A G>A 0.961 0.125 255 PASS . 0.0023 0.01 . 0.004 . 0.0036 0.0086 . 0.004 0.0082 . . . . . 0.4789916 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . 0.0013 0.0033 0.0042 0.0013 0.0033 0.0042 . II.78 . . . . . . . . 3.538e-03 . . . 0.0014 0.0043 0.0022 0 0.0056 0.0061 0.0041 0.0038 0.0013 0.0049 0.0022 0 0.0052 0.0070 0.0021 0.0039 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.59 0.61 182 ENSG00000137804 NUSAP1 NUSAP1 . . . . . . 266 0.00409382 64976 248 0.0041343 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201510924 . . . . . . . . . . . . . . . . . . . . . . . 0.003313 . . . . . 0.0008 0.0036 0.0015 0.0077 5.872e-05 0.0039 0.0048 0.0043 0.0032 0.0016 0.0039 0.0036 0.0132 0 0.0060 0.0051 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs201510924 rs201510924 1 1538 10 1/0 0,249,255 +rs139383475 15 41680739 T A - NDUFAF1 18828 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 NM_016013.3 -1 1477 984 NP_057097.2 Q9Y375 substitution intron GRCh37 41680739 41680739 Chr15(GRCh37):g.41680739T>A 760-19 760-19 NM_016013.3:c.760-19A>T p.? p.? 4 3 606934 -19 3' 93.3381 9.87625 0.9693 2.62474 93.3381 X.77 0.976911 3.70557 0.0357424 rs139383475 yes no Frequency/1000G 2 T benign 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.001147 0.000501 0.000582 0.007805 0.000000 0.000033 0.001545 0.000233 0.000620 0.007805 317 12 20 79 0 1 195 6 4 276482 23956 34392 10122 18844 30716 126244 25760 6448 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 315 12 18 79 0 1 195 6 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4402 12982 20 4 24 0.00232558 0.000907853 0.0018453 0.00232558 0.000907853 0.0018453 44 RCV000127117.1 germline clinical testing Benign 1 not specified transversion A T A>T 0.008 0.528 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0006 0.0014 . 0.002 . . . . . . 0.6969697 . . germline 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000127117.1 not_specified MedGen CN169374 2 . . . 33.0 . . . 0.0009 0.0018 0.0023 0.0009 0.0018 0.0023 . 0.8697 . . . . . . . . 9.945e-04 . . . 0.0007 0.0010 0.0004 0 0 0.0019 0 0 0.0007 0.0009 0.0004 0 0.0002 0.0016 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.61 0.47 182 ENSG00000137806 NDUFAF1 NDUFAF1 . . . . . . 79 0.00121583 64976 76 0.00126696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139383475 . . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000127117.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000127117.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . 0.001845 . . . . IV.33 0.0005 0.0012 0.0006 0.0076 0 0.0002 0.0016 0.0007 3.256e-05 0.0006 0.0009 0.0012 0.0132 0 0.0006 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs139383475 rs139383475 1 1538 10 1/0 0,255,255 +rs186056056 15 41688648 G C - NDUFAF1 18828 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 NM_016013.3 -1 1477 984 NP_057097.2 Q9Y375 substitution intron GRCh37 41688648 41688648 Chr15(GRCh37):g.41688648G>C 573+37 573+37 NM_016013.3:c.573+37C>G p.? p.? 2 2 606934 37 5' 80.6519 8.09891 0.940532 7.15655 80.6519 8.09891 0.940532 7.20155 0 rs186056056 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.009200 0.000000 0.003000 0.002900 0.002942 0.000751 0.000757 0.007799 0.000266 0.004037 0.003461 0.004211 0.002479 0.007799 813 18 26 79 5 124 437 108 16 276362 23968 34358 10130 18832 30714 126260 25646 6454 0.000036 0.000000 0.000058 0.000000 0.000000 0.000000 0.000048 0.000078 0.000000 5 0 1 0 0 0 3 1 0 803 18 24 79 5 124 431 106 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4401 12976 25 5 30 0.00290698 0.00113482 0.00230663 0.00290698 0.00113482 0.00230663 37 transversion C G C>G 0.000 0.125 255 PASS . 0.0018 0.0028 . 0.004 . 0.0028 0.0029 . 0.003 0.0092 . . . . . 0.5802469 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . 0.0011 0.0023 0.0029 0.0011 0.0023 0.0029 . -0.0314 . . . . . . . . 2.921e-03 . . . 0.0010 0.0026 0.0008 0.0002 0.0039 0.0030 0.0014 0.0043 0.0009 0.0030 0.0007 0.0003 0.0041 0.0037 0 0.0043 . . . . . . intronic intronic intronic . . . 0.0028 . . . 0.64 0.13 182 ENSG00000137806 NDUFAF1 NDUFAF1 . . . . . . 190 0.00292416 64976 176 0.00293402 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186056056 . . . . . . . . . . . . . . . . . . . . . . . 0.002307 . . . . . 0.0007 0.0029 0.0007 0.0076 0.0003 0.0039 0.0034 0.0026 0.0040 0.0008 0.0030 0.0012 0.0132 0 0.0060 0.0039 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs186056056 rs186056056 1 1538 10 1/0 0,255,255 +. 15 41763474 T A - RTF1 28996 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) NM_015138.4 1 5021 2133 NP_055953.3 substitution missense exon GRCh37 41763474 41763474 Chr15(GRCh37):g.41763474T>A 1130 1130 NM_015138.4:c.1130T>A p.Phe377Tyr p.Phe377Tyr 8 611633 -74 5' 71.083 3.35219 0.200672 0 71.083 3.35219 0.200672 0 0 Plus-3 Plus-3 domain, subgroup transversion T A T>A 1.000 5.209 F Phe TTC 0.546 Y Tyr TAC 0.562 377 13 10 C. elegans 3 3 4 0 0.2 5.II 6.II 132 136 22 C0 253.20 4.V Tolerated 0.43 III.15 good 2.064E-1 0.4817 255 PASS . . . . . . . . . . . ENSG00000137815:ENST00000389629:exon8:c.T1130A:p.F377Y RTF1:uc001zny.3:exon8:c.T1130A:p.F377Y RTF1:NM_015138:exon8:c.T1130A:p.F377Y . . 0.5555556 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.914 . @ . . . . . 1 0.771 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tAc|F377Y|RTF1|mRNA|CODING|NM_015138|NM_015138.ex.8) . . . . . . . 0.5430 0.598 0.543 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.975 @ . . . . . . ENSG00000137815 RTF1 RTF1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.289 0.011 . . 37 . 0.738 . . 0.682 . . . 0.507 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.529 . . 0 0 0 0 0 0 . 0.416 . . 0.655 . . . . . . 0 0.632 . . . . . 0.842 . 0.685 . HET 0 . . . . . . . . . . . . . 16.5446 . ENST00000389629 6.II 6.II . 0.920000 Q92541 . . . . . 0.897 . . 6.II . . . . . . . . . . . . . . . . . . . 0.730 . 2.311 2.311000 . . 0.920000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.886 . 0.807 2.311 0.991 . . . . . 1 1538 10 1/0 0,255,255 +. 15 41771141 CT C - RTF1 28996 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) NM_015138.4 1 5021 2133 NP_055953.3 deletion intron GRCh37 41771159 41771159 Chr15(GRCh37):g.41771159del 1819-142 1819-142 NM_015138.4:c.1819-142del p.? p.? 16 15 611633 -142 3' 87.8716 8.23937 0.837539 6.64481 87.8716 8.23937 0.837539 6.64481 0 rs529564086 yes no Frequency/1000G 2 T 0.000000 0 0.284744 0.262500 0.239300 0.333300 0.305200 0.291100 0.005970 0.004105 0.036313 0.004854 0.000735 0.000000 0.004672 0.053030 0.011905 0.053030 116 26 13 1 1 0 48 21 6 19432 6334 358 206 1360 0 10274 396 504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 28 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 51 Genomes T 255 Pass . . . . . 0.26 0.28 0.29 0.33 0.31 0.24 . . . . . 0.4 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 30 . . INTRON(MODIFIER||||RTF1|mRNA|CODING|NM_015138|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000137815 RTF1 RTF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs529564086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0041 0.0060 0.0363 0.0049 0.0007 0.0530 0.0047 0.0119 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +rs61757104 15 41795054 C T - ITPKA 6178 Inositol-trisphosphate 3-kinase A NM_002220.2 1 1849 1386 NP_002211.1 P23677 substitution synonymous exon GRCh37 41795054 41795054 Chr15(GRCh37):g.41795054C>T 1179 1179 NM_002220.2:c.1179C>T p.His393= p.His393His 6 147521 -4 5' 91.1667 9.84565 0.998377 XII.94 91.1667 9.84565 0.998183 XII.13 -6.47718e-05 Inositol polyphosphate kinase rs61757104 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.019400 0.000000 0.003000 0.002900 0.004107 0.000774 0.000731 0.007499 0.000053 0.013889 0.003609 0.004256 0.003157 0.013889 1114 18 25 75 1 424 445 106 20 271276 23250 34218 10002 18736 30528 123298 24908 6336 0.000081 0.000000 0.000058 0.000000 0.000000 0.000459 0.000032 0.000080 0.000000 11 0 1 0 0 7 2 1 0 1092 18 23 75 1 410 441 104 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8559 4395 12954 25 5 30 0.0029124 0.00113636 0.00231054 0.0029124 0.00113636 0.00231054 18 COSM1317799 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.913 -0.360 H His CAC 0.587 H His CAT 0.413 393 253 PASS . 0.0018 0.0028 . 0.004 . 0.0048 0.0029 . 0.003 0.019 ENSG00000137825:ENST00000260386:exon6:c.C1179T:p.H393H ITPKA:uc001znz.3:exon6:c.C1179T:p.H393H ITPKA:NM_002220:exon6:c.C1179T:p.H393H . . 0.31707317 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . 0.0011 0.0023 0.0029 0.0011 0.0023 0.0029 . I.78 . . . . . . . . 4.149e-03 . . . 0.0013 0.0052 0.0009 0 0.0057 0.0037 0.0035 0.0155 0.0013 0.0054 0.0009 0 0.0054 0.0044 0.0038 0.0154 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0048 . . . 0.49 0.47 182 ENSG00000137825 ITPKA ITPKA . . . . . . 197 0.00303189 64976 173 0.00288401 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs61757104 . . . . . . ID\x3dCOSM1317799\x3bOCCURENCE\x3d1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . 0.002311 . . . . . 0.0008 0.0042 0.0007 0.0073 5.843e-05 0.0040 0.0035 0.0032 0.0139 0.0008 0.0032 0.0012 0.0132 0 0.0060 0.0041 0.0031 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.004 rs61757104 rs61757104 rs61757104 rs61757104 1 1538 10 1/0 0,254,255 +rs61757104 15 41795054 C T - LTK 6721 Leukocyte receptor tyrosine kinase NM_002344.5 -1 3127 2595 NP_002335.2 P29376 substitution downstream GRCh37 41795054 41795054 Chr15(GRCh37):g.41795054C>T *1140 *1140 NM_002344.5:c.*1140G>A p.? p.? 20 151520 1389 3' 91.863 9.99952 0.96643 X.39 91.863 9.99952 0.96643 X.39 0 rs61757104 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.019400 0.000000 0.003000 0.002900 0.004107 0.000774 0.000731 0.007499 0.000053 0.013889 0.003609 0.004256 0.003157 0.013889 1114 18 25 75 1 424 445 106 20 271276 23250 34218 10002 18736 30528 123298 24908 6336 0.000081 0.000000 0.000058 0.000000 0.000000 0.000459 0.000032 0.000080 0.000000 11 0 1 0 0 7 2 1 0 1092 18 23 75 1 410 441 104 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8559 4395 12954 25 5 30 0.0029124 0.00113636 0.00231054 0.0029124 0.00113636 0.00231054 18 COSM1317799 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.913 -0.360 253 PASS . 0.0018 0.0028 . 0.004 . 0.0048 0.0029 . 0.003 0.019 ENSG00000137825:ENST00000260386:exon6:c.C1179T:p.H393H ITPKA:uc001znz.3:exon6:c.C1179T:p.H393H ITPKA:NM_002220:exon6:c.C1179T:p.H393H . . 0.31707317 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . 0.0011 0.0023 0.0029 0.0011 0.0023 0.0029 . I.78 . . . . . . . . 4.149e-03 . . . 0.0013 0.0052 0.0009 0 0.0057 0.0037 0.0035 0.0155 0.0013 0.0054 0.0009 0 0.0054 0.0044 0.0038 0.0154 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0048 . . . 0.49 0.47 182 ENSG00000137825 ITPKA ITPKA . . . . . . 197 0.00303189 64976 173 0.00288401 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs61757104 . . . . . . ID\x3dCOSM1317799\x3bOCCURENCE\x3d1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . 0.002311 . . . . . 0.0008 0.0042 0.0007 0.0073 5.843e-05 0.0040 0.0035 0.0032 0.0139 0.0008 0.0032 0.0012 0.0132 0 0.0060 0.0041 0.0031 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.004 rs61757104 rs61757104 rs61757104 rs61757104 1 1538 10 1/0 0,254,255 +. 15 41796685 CG C - ITPKA 6178 Inositol-trisphosphate 3-kinase A NM_002220.2 1 1849 1386 NP_002211.1 P23677 deletion downstream GRCh37 41796688 41796688 Chr15(GRCh37):g.41796688del *1324 *1324 NM_002220.2:c.*1324del p.? p.? 7 147521 1528 3' 73.2621 5.13563 0.045015 0 73.2621 5.13563 0.045015 0 0 Cryptic Acceptor Strongly Activated 41796692 6.29415 0.12584 76.9885 6.68884 0.40789 79.6917 rs369649743 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.020400 0.000000 0.003000 0.002900 0.004446 0.000833 0.001048 0.008073 0.000000 0.015989 0.003723 0.004250 0.003260 0.015989 1226 20 36 81 0 491 468 109 21 275746 23996 34364 10034 18846 30708 125708 25648 6442 0.000080 0.000083 0.000058 0.000000 0.000000 0.000326 0.000048 0.000078 0.000000 11 1 1 0 0 5 3 1 0 1204 18 34 81 0 481 462 107 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8204 4254 12458 50 10 60 0.00605767 0.00234522 0.0047931 0.00605767 0.00234522 0.0047931 61 G 255 Pass . . . . . . 0.005 0.0029 . 0.003 0.02 . . . . . 0.5964912 . . . 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 114 . . . 0.0023 0.0048 0.0061 0.0023 0.0048 0.0061 . . . . . . . . . . . . . . 0.0011 0.0049 0.0009 0 0.0039 0.0034 0.0028 0.0159 0.0010 0.0049 0.0008 0 0.0041 0.0040 0.0029 0.0159 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000062524 LTK LTK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs369649743 . . . . . . . . . . . . . . . . . . . . . . . 0.004792 . . . . . 0.0008 0.0046 0.0010 0.0080 0 0.0040 0.0037 0.0033 0.0160 0.0009 0.0032 0.0012 0.01 0 0.0060 0.0042 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0061 . . rs369649743 rs369649743 1 1538 10 1.I 0,12,22 +. 15 41796685 CG C - LTK 6721 Leukocyte receptor tyrosine kinase NM_002344.5 -1 3127 2595 NP_002335.2 P29376 deletion intron GRCh37 41796686 41796686 Chr15(GRCh37):g.41796686del 2255+18 2255+18 NM_002344.5:c.2255+18del p.? p.? 18 18 151520 18 5' 69.9338 5.83957 0.327873 2.81277 69.9338 5.83957 0.327873 1.98309 0 rs369649743 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.020400 0.000000 0.003000 0.002900 0.004446 0.000833 0.001048 0.008073 0.000000 0.015989 0.003723 0.004250 0.003260 0.015989 1226 20 36 81 0 491 468 109 21 275746 23996 34364 10034 18846 30708 125708 25648 6442 0.000080 0.000083 0.000058 0.000000 0.000000 0.000326 0.000048 0.000078 0.000000 11 1 1 0 0 5 3 1 0 1204 18 34 81 0 481 462 107 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8204 4254 12458 50 10 60 0.00605767 0.00234522 0.0047931 0.00605767 0.00234522 0.0047931 61 C 255 Pass . . . . . . 0.005 0.0029 . 0.003 0.02 . . . . . 0.5964912 . . . 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 114 . . . 0.0023 0.0048 0.0061 0.0023 0.0048 0.0061 . . . . . . . . . . . . . . 0.0011 0.0049 0.0009 0 0.0039 0.0034 0.0028 0.0159 0.0010 0.0049 0.0008 0 0.0041 0.0040 0.0029 0.0159 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000062524 LTK LTK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs369649743 . . . . . . . . . . . . . . . . . . . . . . . 0.004792 . . . . . 0.0008 0.0046 0.0010 0.0080 0 0.0040 0.0037 0.0033 0.0160 0.0009 0.0032 0.0012 0.01 0 0.0060 0.0042 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0061 . . rs369649743 rs369649743 1 1538 10 1.I 0,12,22 +rs140601396 15 41812416 G A - RPAP1 24567 RNA polymerase II associated protein 1 NM_015540.3 -1 4683 4182 NP_056355.2 Q9BWH6 substitution intron GRCh37 41812416 41812416 Chr15(GRCh37):g.41812416G>A 3795+173 3795+173 NM_015540.3:c.3795+173C>T p.? p.? 22 22 611475 173 5' 76.822 8.17044 0.897275 8.62598 76.822 8.17044 0.897275 8.62598 0 rs140601396 yes no Frequency/1000G 2 G 0.000000 0 0.004393 0.000000 0.009200 0.006900 0.002000 0.005800 0.004504 0.000720 0.003013 0.022388 0.007808 0.005983 0.003821 0.006726 0.005793 0.022388 415 10 39 51 74 46 146 33 16 92150 13888 12944 2278 9478 7688 38206 4906 2762 0.000022 0.000000 0.000155 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 413 10 37 51 74 46 146 33 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.031 0.690 255 PASS . 0.0032 0.01 0.01 0.0026 . 0.0044 0.0058 0.0069 0.002 0.0092 . . . . . 0.37142858 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||RPAP1|mRNA|CODING|NM_015540|) . . . . . . . -0.2497 . . . . . . . . 1.247e-03 . . . 0 0.0280 0.0556 0 0 0.0505 0.1667 0 0 0.0369 0.0556 0 0 0.1 0.25 0 . . . . . . UTR3 intronic intronic . . . 0.0044 . . . 0.42 0.4 182 ENSG00000103932 RPAP1 RPAP1 ENST00000562303:c.*20C>T . . . . . 183 0.00281642 64976 161 0.00268396 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140601396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0048 0.0027 0.0223 0.0085 0.0078 0.0034 0.0073 0.0060 0.0009 0.0038 0.0072 0.0232 0.0043 0.0063 0.0044 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs140601396 rs140601396 1 1538 10 1/0 0,255,255 +rs190512390 15 41815388 A G - RPAP1 24567 RNA polymerase II associated protein 1 NM_015540.3 -1 4683 4182 NP_056355.2 Q9BWH6 substitution intron GRCh37 41815388 41815388 Chr15(GRCh37):g.41815388A>G 2546+55 2546+55 NM_015540.3:c.2546+55T>C p.? p.? 18 18 611475 55 5' 85.6983 7.76066 0.997078 8.68269 85.6983 7.76066 0.997078 8.72289 0 rs190512390 yes no Frequency/1000G 2 A 0.000000 0 0.003994 0.000000 0.009200 0.005000 0.002000 0.005800 0.003787 0.000919 0.005967 0.023179 0.003699 0.000000 0.004413 0.006315 0.003055 0.023179 117 8 5 7 6 0 66 22 3 30892 8708 838 302 1622 0 14956 3484 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 8 5 7 6 0 66 22 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.024 -0.279 255 PASS . 0.0027 0.01 0.0035 0.0026 . 0.004 0.0058 0.005 0.002 0.0092 . . . . . 0.5740741 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||RPAP1|mRNA|CODING|NM_015540|) . . . . . . . 0.2504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.36 0.13 182 ENSG00000103932 RPAP1 RPAP1 . . . . . . 178 0.00273947 64976 158 0.00263395 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190512390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0038 0.0060 0.0232 0.0037 0.0063 0.0044 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190512390 rs190512390 1 1538 10 1/0 0,255,255 +rs151048339 15 41827875 C T - RPAP1 24567 RNA polymerase II associated protein 1 NM_015540.3 -1 4683 4182 NP_056355.2 Q9BWH6 substitution intron GRCh37 41827875 41827875 Chr15(GRCh37):g.41827875C>T 421-45 421-45 NM_015540.3:c.421-45G>A p.? p.? 5 4 611475 -45 3' 92.7374 XI.25 0.98396 X.09 92.7374 XI.25 0.98396 IX.44 0 Cryptic Donor Strongly Activated 41827878 0.008525 67.7854 III.07 0.085103 72.1478 rs151048339 yes no Frequency/1000G 2 C 0.000000 0 0.004393 0.000000 0.009200 0.006900 0.002000 0.005800 0.004111 0.000803 0.002012 0.016441 0.007338 0.004588 0.003797 0.003923 0.005224 0.016441 1057 19 60 141 132 121 455 98 31 257134 23648 29814 8576 17988 26374 119822 24978 5934 0.000047 0.000000 0.000067 0.000233 0.000000 0.000000 0.000067 0.000000 0.000000 6 0 1 1 0 0 4 0 0 1045 19 58 139 132 121 447 98 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4400 12973 27 6 33 0.00313953 0.00136178 0.00253729 0.00313953 0.00136178 0.00253729 50 transition G A G>A 0.000 -1.812 255 PASS . 0.0032 0.01 0.01 0.0026 . 0.0044 0.0058 0.0069 0.002 0.0092 . . . . . 0.3968254 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||RPAP1|mRNA|CODING|NM_015540|) 0.0014 0.0025 0.0031 0.0014 0.0025 0.0031 . 0.1843 . . . . . . . . 3.845e-03 . . . 0.0009 0.0035 0.0015 0.0055 0.0037 0.0040 0.0043 0.0046 0.0008 0.0038 0.0013 0.0064 0.0039 0.0043 0.0015 0.0046 . . . . . . intronic intronic intronic . . . 0.0044 . . . 0.4 0.22 182 ENSG00000103932 RPAP1 RPAP1 . . . . . . 182 0.00280103 64976 160 0.00266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151048339 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv904112 0.002537 . . . . . 0.0007 0.0042 0.0019 0.0162 0.0076 0.0035 0.0037 0.0057 0.0046 0.0009 0.0038 0.0060 0.0232 0.0043 0.0063 0.0044 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151048339 rs151048339 1 1538 10 1/0 0,255,255 +rs142505884 15 41829267 A C - RPAP1 24567 RNA polymerase II associated protein 1 NM_015540.3 -1 4683 4182 NP_056355.2 Q9BWH6 substitution missense exon GRCh37 41829267 41829267 Chr15(GRCh37):g.41829267A>C 57 57 NM_015540.3:c.57T>G p.Ser19Arg p.Ser19Arg 2 611475 -125 5' 74.2807 8.34018 0.618599 IV.76 74.2807 8.34018 0.618599 IV.76 0 rs142505884 yes no Frequency/1000G 2 A 0.000000 0 0.004393 0.000000 0.009200 0.006900 0.002000 0.005800 0.004086 0.000791 0.001917 0.015964 0.007209 0.004386 0.003801 0.003917 0.004949 0.015964 1132 19 66 162 136 135 481 101 32 277012 24010 34420 10148 18864 30778 126538 25788 6466 0.000036 0.000000 0.000058 0.000197 0.000000 0.000000 0.000047 0.000000 0.000000 5 0 1 1 0 0 3 0 0 1122 19 64 160 136 135 475 101 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4400 12973 27 6 33 0.00313953 0.00136178 0.00253729 0.00313953 0.00136178 0.00253729 79 transversion T G T>G 0.992 0.125 S Ser AGT 0.149 R Arg AGG 0.207 19 12 5 Dog -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Tolerated 0.57 II.98 255 PASS . 0.0032 0.01 0.01 0.0026 . 0.0044 0.0058 0.0069 0.002 0.0092 . RPAP1:uc001zod.3:exon2:c.T57G:p.S19R RPAP1:NM_015540:exon2:c.T57G:p.S19R . . 0.44444445 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.239 . @ . . . . . 1 0.462 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S19R|RPAP1|mRNA|CODING|NM_015540|NM_015540.ex.2) 0.0014 0.0025 0.0031 0.0014 0.0025 0.0031 . -0.5895 -0.412 -0.589 c . . . . . 3.859e-03 . . . 0.0010 0.0035 0.0015 0.0055 0.0037 0.0041 0.0042 0.0042 0.0009 0.0038 0.0013 0.0064 0.0039 0.0044 0.0014 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.835 . . exonic exonic exonic . . 0.188 0.0044 . . . 0.25 0.26 182 ENSG00000103932 RPAP1 RPAP1 . . . 0.999 0.396 . 183 0.00281642 64976 161 0.00268396 59986 Likely_benign . 0 . 0.299 . . . . D 0.541 0.032 . . 37 . 0.492 . . 0.521 . . . 0.597 0.293 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.350 . . 0 0 0 0 0 0 . 0.112 . . 0.063 . . . . . . 0 0.198 . . . . . 0.196 . 0.524 . HET 0.14 rs142505884 . . . . . . . 0.003205128205128205 0.0 0.0055248618784530384 0.005244755244755245 0.002638522427440633 6.1875 0.001338 ENST00000304330 IV.95 0.983 . 0.000000 Q9BWH6 . . Name\x3dnsv904112 0.002537 . 0.382 . . . 0.0007 0.0041 0.0018 0.0157 0.0075 0.0035 0.0037 0.0053 0.0044 0.0009 0.0038 0.0060 0.0232 0.0043 0.0063 0.0044 0.0031 . . 0.609 . 0.056 0.056000 . . 0.000000 . . 1.0E-255 0.993 0.376 . 0.604 0.957 . 0.198 . 0.256 0.056 -0.168 0.01 . . rs142505884 rs142505884 1 1538 10 1/0 0,255,255 +rs61757238 15 42059352 T C - MGA 14010 MAX gene associated NM_001164273.1 1 12042 9198 NP_001157745.1 substitution synonymous exon GRCh37 42059352 42059352 Chr15(GRCh37):g.42059352T>C 9072 9072 NM_001164273.1:c.9072T>C p.Val3024= p.Val3024Val 24 616061 1151 3' 95.6592 X.52 0.968288 9.49307 95.6592 X.52 0.968288 9.49307 0 rs61757238 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001808 0.000792 0.002615 0.007685 0.000000 0.000032 0.002346 0.000116 0.002014 0.007685 501 19 90 78 0 1 297 3 13 277090 24004 34420 10150 18870 30780 126620 25790 6456 0.000014 0.000000 0.000116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 497 19 86 78 0 1 297 3 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8271 3891 12162 27 5 32 0.0032538 0.00128337 0.00262424 0.0032538 0.00128337 0.00262424 119 transition T C T>C 1.000 3.353 V Val GTT 0.178 V Val GTC 0.240 3024 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.42 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0013 0.0026 0.0033 0.0013 0.0026 0.0033 . I.95 . . . . . . . . 1.623e-03 . . . 0.0011 0.0019 0.0029 0 0 0.0029 0 0 0.0012 0.0015 0.0028 0 0 0.0022 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.64 0.34 182 ENSG00000174197 MGA MGA . . . . . . 122 0.00187762 64976 121 0.00201714 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61757238 . . . . . . . . . . . . . . . . . . . . . . . 0.002624 . . . . V.44 0.0008 0.0019 0.0026 0.0075 0 0.0001 0.0024 0.0024 3.249e-05 0.0008 0.0012 0.0024 0.0132 0 0 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0033 rs61757238 rs61757238 rs61757238 rs61757238 1 1538 10 1/0 0,255,255 +rs143368521 15 42116733 G A - MAPKBP1 29536 Mitogen-activated protein kinase binding protein 1 NM_001128608.1 1 7250 4545 NP_001122080.1 O60336 substitution missense exon GRCh37 42116733 42116733 Chr15(GRCh37):g.42116733G>A 4283 4283 NM_001128608.1:c.4283G>A p.Gly1428Asp p.Gly1428Asp 31 616786 -35 5' 72.5147 VI.94 0.593453 X.49 72.5147 VI.94 0.593453 10.893 0 rs143368521 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001797 0.000632 0.002486 0.007587 0.000000 0.000035 0.002363 0.000092 0.001821 0.007587 460 14 82 74 0 1 276 2 11 256000 22168 32988 9754 18022 28424 116822 21782 6040 0.000016 0.000000 0.000121 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 456 14 78 74 0 1 276 2 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4394 12964 28 4 32 0.00325657 0.000909504 0.0024623 0.00325657 0.000909504 0.0024623 34 transition G A G>A 0.945 0.367 G Gly GGC 0.342 D Asp GAC 0.539 1428 12 4 Dog -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 272.33 0.00 Tolerated 0.64 II.88 good 9.727E-1 0.1518 255 PASS . 0.0009 . . 0.0026 . 0.0002 . . 0.001 . . . . . . 0.44247788 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.026 . @ . . . . . 1 0.100 . . 113.0 . . . 0.0009 0.0025 0.0033 0.0009 0.0025 0.0033 . -0.9844 -0.914 -0.984 c . . . . . 1.451e-03 . . . 0.0011 0.0030 0.0056 0 0 0.0051 0 0 0.0011 0.0026 0.0057 0 0 0.0042 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.342 . . exonic exonic exonic . . 0.183 0.0002 . . . 0.58 0.51 182 ENSG00000137802 MAPKBP1 MAPKBP1 . . . 0.044 0.146 . 110 0.00169293 64976 109 0.00181709 59986 Likely_benign . 0 . 0.272 . . . . T 0.091 0.004 . . 37 . 0.171 . . 0.217 . . . 0.292 0.243 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.166 . . 0 0 0 0 0 0 . 0.135 . . 0.104 . . . . . . 0 0.045 . . . . . 0.104 . 0.251 . HET 0 rs143368521 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IV.67 8.05E-4 . 5.V 0.893 . 0.780000 . . . . 0.002462 . 0.358 . . . 0.0005 0.0019 0.0025 0.0074 0 0.0001 0.0025 0.0022 3.518e-05 0.0008 0.0012 0.0024 0.0132 0 0 0.0016 0 . . 0.974 . 0.508 0.508000 . . 0.780000 . . 1.0E-255 1.000 0.715 . 0.043 0.032 . 0.379 . 0.202 0.508 0.917 0.0033 . . rs143368521 rs143368521 1 1538 10 1/0 0,250,255 +rs371238537 15 42158442 G T - MIR4310 38383 MicroRNA 4310 NR_036195.1 -1 57 0 substitution downstream GRCh37 42158442 42158442 Chr15(GRCh37):g.42158442G>T *251 *251 NR_036195.1:n.*251C>A p.? p.? 1 rs371238537 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000280 0.000087 0.000068 0.000116 0.000000 0.000000 0.000524 0.000129 0.000171 0.000524 71 2 2 1 0 0 62 3 1 253942 23022 29420 8590 17812 27702 118336 23222 5838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 2 2 1 0 0 62 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8382 4123 12505 2 1 3 0.00023855 0.000242483 0.000239846 0.00023855 0.000242483 0.000239846 25 transversion C A C>A 0.000 0.286 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.41379312 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . 0.5400 . . . . . . . . 2.878e-04 . . . 0 0.0003 0 0 0 0.0006 0 0 0 0.0004 0 0 0 0.0007 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.45 0.32 182 ENSG00000137877 SPTBN5 SPTBN5 . . . . . . 23 0.000353977 64976 22 0.000366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs371238537 . . . . . . . . . . . . . . . . . . . . . . . 0.000240 . . . . . 0.0001 0.0003 3.499e-05 0.0001 0 0.0002 0.0005 0.0002 0 0 0.0002 0.0012 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs371238537 rs371238537 1 1538 10 1/0 0,255,255 +rs371238537 15 42158442 G T - SPTBN5 15680 Spectrin, beta, non-erythrocytic 5 NM_016642.3 -1 11723 11025 NP_057726.4 Q9NRC6 substitution intron GRCh37 42158442 42158442 Chr15(GRCh37):g.42158442G>T 6631-15 6631-15 NM_016642.3:c.6631-15C>A p.? p.? 38 37 605916 -15 3' 86.1379 13.2911 0.97211 XI.55 86.1379 12.1749 0.950448 10.369 -0.0354224 rs371238537 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000280 0.000087 0.000068 0.000116 0.000000 0.000000 0.000524 0.000129 0.000171 0.000524 71 2 2 1 0 0 62 3 1 253942 23022 29420 8590 17812 27702 118336 23222 5838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 2 2 1 0 0 62 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8382 4123 12505 2 1 3 0.00023855 0.000242483 0.000239846 0.00023855 0.000242483 0.000239846 25 transversion C A C>A 0.000 0.286 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.41379312 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . 0.5400 . . . . . . . . 2.878e-04 . . . 0 0.0003 0 0 0 0.0006 0 0 0 0.0004 0 0 0 0.0007 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.45 0.32 182 ENSG00000137877 SPTBN5 SPTBN5 . . . . . . 23 0.000353977 64976 22 0.000366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs371238537 . . . . . . . . . . . . . . . . . . . . . . . 0.000240 . . . . . 0.0001 0.0003 3.499e-05 0.0001 0 0.0002 0.0005 0.0002 0 0 0.0002 0.0012 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs371238537 rs371238537 1 1538 10 1/0 0,255,255 +. 15 42523341 T TC - TMEM87A 24522 Transmembrane protein 87A NM_015497.4 -1 3110 1668 NP_056312.2 Q8NBN3 duplication intron GRCh37 42523341 42523342 Chr15(GRCh37):g.42523342dup 1131+48 1131+48 NM_015497.4:c.1131+48dup p.? p.? 12 12 48 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 42523339 0.591301 0.018002 78.0292 1.60689 0.070755 77.4482 rs56119841 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999975 0.999821 0.999919 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 244266 22300 24570 9112 15898 23786 117800 25242 5558 244272 22304 24572 9112 15898 23786 117800 25242 5558 0.999951 0.999641 0.999837 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 122130 11148 12284 4556 7949 11893 58900 12621 2779 6 4 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes G 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42 . . . . . . . . . . . . . . . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000103978 TMEM87A TMEM87A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397725100 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832985 . . . . . . 0.9998 1.0000 0.9999 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs56119841 rs56119841 1 1538 255 1.I 0,0,255 +rs200292967 15 42727713 G A - ZNF106 12886 Zinc finger protein 106 NM_022473.2 -1 10881 5652 NP_071918.1 Q9H2Y7 substitution missense exon GRCh37 42727713 42727713 Chr15(GRCh37):g.42727713G>A 4681 4681 NM_022473.2:c.4681C>T p.Arg1561Trp p.Arg1561Trp 11 4 3' 73.3697 5.59756 0.199638 0 73.3697 5.59756 0.186427 0 -0.0220583 WD40 repeat WD40-repeat-containing domain rs200292967 yes no Frequency 1 G 0.000000 0 0.000054 0.000000 0.000000 0.000788 0.000000 0.000000 0.000047 0.000039 0.000000 0.000788 15 0 0 8 0 0 6 1 0 277196 24032 34418 10150 18866 30782 126698 25784 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 8 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 0.851 R Arg CGG 0.207 W Trp TGG 1.000 1561 16 11 Frog -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.01 3.II 253 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.928 . @ . . . . . 1 0.988 . . 34.0 . . . . . . . . . . 0.4982 0.387 0.498 c . . . . . 4.736e-05 . . . 0 4.409e-05 0 0 0 9.498e-05 0 0 0 5.651e-05 0 0 0.0002 9.204e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.601 . . exonic exonic exonic . . 0.340 @ . . . 0.57 0.19 182 ENSG00000103994 ZNF106 ZNF106 . . . 0.833 0.247 . . . . . . . Uncertain_significance . 0 . 0.434 . . . . D 0.762 0.094 . . 37 . 0.743 . . 0.786 . . . 0.631 0.495 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.774 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.654 . . . . . 0.562 . 0.597 . HET 0 rs200292967 . . . . . . . . . . . . XII.96 . . V.13 3.IV . 0.010000 . . . . . . 0.802 . . 3.IV 0 5.686e-05 0 0.0008 0 4.485e-05 4.477e-05 0 0 0 3.23e-05 0 0 0 0 6.665e-05 0 . . 0.730 . 1.330 1.330000 . . 0.010000 . . 1.0E-253 0.996 0.391 . 0.750 0.972 . 0.424 . 0.713 1.330 -0.045 . . . rs200292967 rs200292967 1 1538 10 1/0 0,255,255 +rs139449869 15 43483228 A G - CCNDBP1 1587 Cyclin D-type binding-protein 1 NM_012142.4 1 3650 1083 NP_036274.3 O95273 substitution synonymous exon GRCh37 43483228 43483228 Chr15(GRCh37):g.43483228A>G 567 567 NM_012142.4:c.567A>G p.Glu189= p.Glu189Glu 7 607089 -13 5' 90.6189 10.0684 0.875341 5.32926 90.6189 10.0684 0.875341 5.29097 0 rs139449869 yes no Frequency 1 A 0.000000 0 0.000444 0.000125 0.000116 0.000788 0.000000 0.000195 0.000688 0.000504 0.000310 0.000788 123 3 4 8 0 6 87 13 2 276966 24002 34408 10148 18868 30770 126522 25788 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123 3 4 8 0 6 87 13 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 4 0 4 0.000465224 0 0.000307598 0.000465224 0 0.000307598 109 transition A G A>G 1.000 1.093 E Glu GAA 0.417 E Glu GAG 0.583 189 255 PASS . . . . . . . . . . . . . CCNDBP1:NM_012142:exon7:c.A567G:p.E189E . . 0.60273975 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . I.00 . . . . . . . . 5.288e-04 . . . 9.764e-05 0.0005 0 0 0.0008 0.0010 0 0.0002 0.0001 0.0005 0 0 0.0008 0.0008 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.48 182 ENSG00000166946 CCNDBP1 CCNDBP1 . . . . . . 24 0.000369367 64976 24 0.000400093 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139449869 . . . . . . . . . . . . . . . . . . . . . . . 0.000308 . . . . 3.IX 0.0001 0.0005 0.0001 0.0008 0 0.0005 0.0007 0.0004 0.0002 0.0001 0.0004 0 0 0 0.0003 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs139449869 rs139449869 1 1538 10 1/0 0,255,255 +rs146833656 15 43569097 C T - TGM7 30790 Transglutaminase 7 NM_052955.2 -1 2312 2133 NP_443187.1 Q96PF1 substitution missense exon GRCh37 43569097 43569097 Chr15(GRCh37):g.43569097C>T 1936 1936 NM_052955.2:c.1936G>A p.Glu646Lys p.Glu646Lys 12 606776 -38 5' 75.8485 8.56881 0.986262 8.79313 75.8485 8.56881 0.986262 8.95248 0 Transglutaminase, C-terminal rs146833656 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000800 0.001000 0.000000 0.004000 0.008600 0.008092 0.002372 0.004620 0.013601 0.000053 0.005166 0.011218 0.009154 0.011142 0.013601 2242 57 159 138 1 159 1420 236 72 277064 24028 34412 10146 18870 30780 126586 25780 6462 0.000079 0.000000 0.000058 0.000197 0.000000 0.000000 0.000126 0.000000 0.000310 11 0 1 1 0 0 8 0 1 2220 57 157 136 1 159 1404 236 70 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8494 4389 12883 104 15 119 0.0120958 0.00340599 0.00915244 0.0120958 0.00340599 0.00915244 97 transition G A G>A 1.000 4.402 E Glu GAA 0.417 K Lys AAA 0.425 646 12 10 Fruitfly 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 225.19 34.45 Deleterious 0.02 3.XII good 2.193E-2 0.0002291 255 PASS 0.002 0.0032 0.01 . 0.004 0.0008 0.0024 0.0086 . 0.004 0.001 ENSG00000159495:ENST00000452443:exon12:c.G1936A:p.E646K TGM7:uc001zrf.1:exon12:c.G1936A:p.E646K TGM7:NM_052955:exon12:c.G1936A:p.E646K . . 0.45714286 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.926 . @ . . . . . 1 0.987 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E646K|TGM7|mRNA|CODING|NM_052955|NM_052955.ex.12) 0.0034 0.0092 0.012 0.0034 0.0092 0.012 . 0.7271 0.655 0.727 c . . . . . 8.050e-03 . . . 0.0023 0.0077 0.0046 0.0002 0.0126 0.0115 0.0127 0.0050 0.0021 0.0076 0.0046 0 0.0114 0.0106 0.0087 0.0050 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.696 0.0024 . . . 0.4 0.48 182 ENSG00000159495 TGM7 TGM7 . . . 1.000 0.747 . 623 0.00958816 64976 611 0.0101857 59986 Uncertain_significance . 0 . 0.352 . . . . . . . . . 37 . 0.543 . . 0.672 . . . 0.917 0.441 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.692 . . 0 0 0 0 0 0 . 0.670 . . 0.630 . . . . . . 0 0.721 . . . . . 0.806 . 0.390 . HET 0 rs146833656 . . . . . . . 0.003205128205128205 0.0020325203252032522 0.008287292817679558 0.0 0.00395778364116095 16.0633 0.00321 ENST00000452443 V.13 V.13 . 0.010000 Q96PF1 . . . 0.009152 . 0.799 . . V.13 0.0022 0.0081 0.0047 0.0137 5.798e-05 0.0093 0.0111 0.0111 0.0052 0.0028 0.0082 0.0024 0.0099 0 0.0083 0.0124 0.0112 . . 0.083 . 2.375 2.375000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.360 0.984 . 0.542 . 0.329 2.375 0.871 0.012 . . rs146833656 rs146833656 1 1538 10 1/0 0,255,255 +rs187859523 15 43713967 C A - TP53BP1 11999 Tumor protein p53 binding protein 1 NM_001141980.1 -1 6216 5934 NP_001135452.1 substitution intron GRCh37 43713967 43713967 Chr15(GRCh37):g.43713967C>A 4100+86 4100+86 NM_001141980.1:c.4100+86G>T p.? p.? 19 19 605230 86 5' 64.6273 2.02512 0.181825 0.730031 64.6273 2.02512 0.181825 0.730031 0 rs187859523 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000800 0.000000 0.000000 0.003000 0.000000 0.004379 0.001329 0.001685 0.002541 0.000000 0.002065 0.006333 0.007474 0.005451 0.007474 1011 31 48 15 0 42 681 165 29 230888 23324 28492 5904 17896 20340 107534 22078 5320 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 2 0 0 0 0 0 2 0 0 1007 31 48 15 0 42 677 165 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.992 0.932 242 PASS 0.002 0.0018 . . 0.004 0.0008 0.0008 . . 0.003 . . . . . . 0.2857143 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . I.99 . . . . . . . . 4.522e-03 . . . 0.0018 0.0047 0.0023 0 0.0101 0.0068 0.0073 0.0024 0.0014 0.0048 0.0024 0 0.0094 0.0064 0.0057 0.0024 . . . . . . UTR3 intronic intronic . . . 0.0008 . . . 0.64 0.34 182 ENSG00000067369 TP53BP1 TP53BP1 ENST00000467474:c.*25G>T . . . . . 358 0.00550973 64976 354 0.00590138 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187859523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.18 0.0011 0.0043 0.0017 0.0027 0 0.0076 0.0063 0.0055 0.0021 0.0017 0.0046 0.0012 0 0 0.0066 0.0066 0.0051 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . 0.004 . . rs187859523 rs187859523 1 1538 10 1/0 0,255,255 +rs145659671 15 43818115 G A - MAP1A 6835 Microtubule-associated protein 1A NM_002373.5 1 10275 8412 NP_002364.5 substitution missense exon GRCh37 43818115 43818115 Chr15(GRCh37):g.43818115G>A 4444 4444 NM_002373.5:c.4444G>A p.Asp1482Asn p.Asp1482Asn 4 600178 -3592 5' 87.864 10.0774 0.99377 8.34209 87.864 10.0774 0.99377 8.34209 0 rs145659671 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000800 0.001000 0.000000 0.003000 0.008600 0.009289 0.002595 0.005209 0.014752 0.000053 0.005207 0.013415 0.009274 0.013027 0.014752 2567 62 179 149 1 160 1693 239 84 276352 23892 34362 10100 18850 30728 126200 25772 6448 0.000094 0.000000 0.000058 0.000198 0.000000 0.000000 0.000158 0.000000 0.000310 13 0 1 1 0 0 10 0 1 2541 62 177 147 1 160 1673 239 82 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8086 3740 11826 124 14 138 0.0151035 0.00372936 0.0115346 0.0151035 0.00372936 0.0115346 92 COSM328351|COSM328351 Prostate|Pancreas 0.000567|0.000569 1764|1758 transition G A G>A 0.008 0.770 D Asp GAC 0.539 N Asn AAC 0.536 1482 10 8 Little brown bat 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 213.16 22.75 Deleterious 0 IV.32 bad 1.747E-3 0.0001552 255 PASS 0.002 0.0032 0.01 . 0.004 0.0008 0.0022 0.0086 . 0.003 0.001 . MAP1A:uc001zrt.3:exon4:c.G4444A:p.D1482N MAP1A:NM_002373:exon4:c.G4444A:p.D1482N . . 0.44444445 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.424 . @ . . . . . 1 0.378 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1482N|MAP1A|mRNA|CODING|NM_002373|NM_002373.ex.4) 0.0037 0.011 0.015 0.0037 0.011 0.015 . 0.0999 -0.098 0.100 c . . . . . 9.398e-03 . . . 0.0029 0.0091 0.0052 0.0002 0.0124 0.0140 0.0158 0.0051 0.0026 0.0089 0.0052 0 0.0113 0.0127 0.0087 0.0051 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.235 . . exonic exonic exonic . . 0.446 0.0022 . . . 0.26 0.35 182 ENSG00000166963 MAP1A MAP1A . . . 1.000 0.747 . 584 0.00898793 64976 573 0.00955223 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.329 . . 0.127 . . . 0.790 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.305 . . 0 0 0 0 0 0 . 0.670 . . 0.797 . . . . . . 0 0.599 . . . . . 0.586 . 0.001 . HET 0.05 rs145659671 . . . . . . ID\x3dCOSM328351\x3bOCCURENCE\x3d1(pancreas) 0.003205128205128205 0.0020325203252032522 0.008287292817679558 0.0 0.00395778364116095 13.1289 0.003585 . III.94 III.94 . 0.050000 P78559 . . . 0.011535 . 0.178 . . III.94 0.0024 0.0093 0.0053 0.0148 5.804e-05 0.0095 0.0134 0.0128 0.0052 0.0029 0.0090 0.0024 0.0133 0 0.0080 0.0137 0.0143 . . 0.395 . 2.166 2.166000 . . 0.050000 . . 1.0E-255 0.036 0.206 . 0.204 0.399 . 0.322 . 0.713 2.166 0.917 0.015 . . rs145659671 rs145659671 1 1538 10 1/0 0,255,255 +rs1802997 15 43868596 C T - PPIP5K1 29023 Diphosphoinositol pentakisphosphate kinase 1 NM_001130858.2 -1 5718 4302 NP_001124330.1 Q6PFW1 substitution synonymous exon GRCh37 43868596 43868596 Chr15(GRCh37):g.43868596C>T 1929 1929 NM_001130858.2:c.1929G>A p.Ala643= p.Ala643Ala 18 610979 -28 5' 85.0987 7.19963 0.727244 4.51359 85.0987 7.19963 0.727244 4.23473 0 Histidine phosphatase superfamily, clade-2 rs1802997 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.102 -0.602 A Ala GCG 0.107 A Ala GCA 0.226 643 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . 0.8453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.32 182 ENSG00000168781 PPIP5K1 PPIP5K1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs148398780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs1802997 rs1802997 rs1802997 rs148398780 1 1538 255 1.I 0,0,255 +rs781166222 (chr15:43968161 C/T) 15 43968161 C T Not on a known gene +rs2258957 (chr15:43973324 T/C) 15 43973324 T C Not on a known gene +rs190227684 15 44890420 A G - SPG11 11226 Spastic paraplegia 11 (autosomal recessive) NM_025137.3 -1 7788 7332 NP_079413.3 Q96JI7 substitution intron GRCh37 44890420 44890420 Chr15(GRCh37):g.44890420A>G 4001+43 4001+43 NM_025137.3:c.4001+43T>C p.? p.? 23 23 610844 43 5' 76.896 6.36285 0.78069 0 76.896 6.36285 0.78069 0 0 rs190227684 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.003502 0.001085 0.001398 0.001680 0.000000 0.000488 0.005282 0.006849 0.003117 0.006849 965 26 48 17 0 15 664 175 20 275554 23972 34332 10118 18748 30712 125706 25550 6416 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 961 26 48 17 0 15 660 175 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8539 4386 12925 51 8 59 0.00593714 0.00182066 0.00454405 0.00593714 0.00182066 0.00454405 86 transition T C T>C 0.000 0.205 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0004 . . 0.001 . . . . . . 0.4516129 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . 0.0018 0.0045 0.0059 0.0018 0.0045 0.0059 . 0.2756 . . . . . . . . 3.402e-03 . . . 0.0016 0.0032 0.0008 0 0.0090 0.0052 0.0057 0.0006 0.0013 0.0032 0.0008 0 0.0081 0.0046 0.0044 0.0006 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.6 0.09 182 ENSG00000104133 SPG11 SPG11 . . . . . . 255 0.00392453 64976 253 0.00421765 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190227684 . . . . . . . . . . . . . . . . . . . . . . . 0.004544 . . . . . 0.0010 0.0035 0.0014 0.0017 0 0.0070 0.0053 0.0029 0.0005 0.0013 0.0037 0.0012 0 0 0.0057 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0059 . . rs190227684 rs190227684 1 1538 10 1/0 0,255,255 +rs80338868 15 44949354 C T - SPG11 11226 Spastic paraplegia 11 (autosomal recessive) NM_025137.3 -1 7788 7332 NP_079413.3 Q96JI7 substitution missense exon GRCh37 44949354 44949354 Chr15(GRCh37):g.44949354C>T 808 808 NM_025137.3:c.808G>A p.Val270Ile p.Val270Ile 4 610844 -62 5' 89.8263 9.80181 0.99619 2.42092 89.8263 9.80181 0.99619 2.09307 0 rs80338868 yes no Frequency/1000G 2 C benign,likely_benign 0.000000 0 0.003195 0.007600 0.000000 0.000000 0.005000 0.001400 0.006195 0.008616 0.004300 0.004925 0.000000 0.000715 0.008329 0.007135 0.007892 0.008616 1717 207 148 50 0 22 1055 184 51 277160 24024 34418 10152 18870 30782 126664 25788 6462 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 1707 207 148 50 0 22 1045 184 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8507 4353 12860 89 43 132 0.0103537 0.00978162 0.0101601 0.0103537 0.00978162 0.0101601 86 RCV000439715.1|RCV000034267.3 germline|not provided|germline clinical testing|curation|clinical testing Likely benign|Benign 1|1 not specified|Spastic paraplegia 11, autosomal recessive CM151894 Amyotrophic lateral sclerosis 25588603 DM? transition G A G>A 0.992 3.837 V Val GTT 0.178 I Ile ATT 0.356 270 13 10 Chicken 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 III.79 unknown 0.0 0.0 255 PASS 0.01 0.0037 . . 0.01 0.0076 0.0032 0.0014 . 0.005 . . . . . . 0.46938777 . . germline 46 . . 1.2.2016 0 1 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.534 . Benign Benign RCV000034267.2 . MedGen:OMIM:Orphanet C1858479:604360:ORPHA2822 1 0.821 . . 98.0 . . . 0.0098 0.01 0.01 0.0098 0.01 0.01 . 0.2430 0.177 0.243 c . . . . . 6.022e-03 . . . 0.0095 0.0064 0.0063 0 0.0097 0.0084 0.0099 0.0009 0.0088 0.0056 0.0063 0 0.0085 0.0069 0.0073 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.890 0.0032 . . . 0.61 0.34 182 ENSG00000104133 SPG11 SPG11 . . . 1.000 0.747 . 387 0.00595605 64976 371 0.00618478 59986 Likely_benign . 0 . 0.432 . . . . . . . . . 37 . 0.443 . . 0.570 . . . 0.758 0.350 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 1 0 . 0.609 . . 0.558 . . . . . . 0 0.457 . . . . . 0.879 . 0.208 . HET 0.07 rs80338868 . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dSpastic_paraplegia_11\x2c_autosomal_recessive\x3bCLNACC\x3dRCV000034267.2 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dSpastic_paraplegia_11\x2c_autosomal_recessive\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000034267.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM\x3bCLNDSDBID\x3dNBK1210:C1858479:604360 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dSpastic_paraplegia_11\x2c_autosomal_recessive\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000034267.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM\x3bCLNDSDBID\x3dNBK1210:C1858479:604360 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dSpastic_paraplegia_11\x2c_autosomal_recessive\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000034267.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM\x3bCLNDSDBID\x3dNBK1210:C1858479:604360 . 0.003663003663003663 0.008130081300813009 0.0 0.0 0.005277044854881266 17.6254 0.009363 . V.71 V.71 . 0.070000 . . . . 0.010160 . 0.271 . . V.71 0.0089 0.0060 0.0043 0.0049 0 0.0073 0.0083 0.0086 0.0007 0.0081 0.0074 0.0036 0.0066 0 0.0060 0.0086 0.0041 . . 0.986 . 2.703 2.703000 . . 0.070000 . . 1.0E-255 0.416 0.261 . 0.253 0.549 . 0.307 . 0.445 2.703 0.871 0.01 . . rs80338868 . 1 1538 10 1/0 0,255,255 +rs200998617 15 45403512 C A - DUOX2 13273 Dual oxidase 2 NM_014080.4 -1 6346 4647 NP_054799.4 Q9NRD8 substitution intron GRCh37 45403512 45403512 Chr15(GRCh37):g.45403512C>A 716-37 716-37 NM_014080.4:c.716-37G>T p.? p.? 7 6 606759 -37 3' 67.4266 4.90032 0.007223 0 67.4266 4.90032 0.007223 0 0 rs200998617 yes no Frequency/1000G 2 C 0.000000 0 0.000477 0.000231 0.000264 0.000000 0.000553 0.000000 0.000696 0.000432 0.001261 0.000696 38 3 3 0 5 0 22 2 3 79628 12992 11378 1506 9034 6106 31604 4628 2380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 3 3 0 5 0 22 2 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -0.198 222 PASS 0.11 0.05 0.04 0.03 0.02 . . . . . . . . . . . 0.21794872 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . 0.6967 . . . . . . . . 9.050e-05 . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.48 182 ENSG00000140279 DUOX2 DUOX2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200998617 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0.0004 0.0008 0.0002 0.0007 0 0.0004 0.0009 0 0 0.0013 0.0003 0.0013 0.0022 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . 0.11 . . rs200998617 rs200998617 1 1538 10 1/0 0,218,255 +rs11855665 15 49517458 A G - GALK2 4119 Galactokinase 2 NM_002044.3 1 3330 1377 NP_002035.1 Q01415 substitution intron GRCh37 49517458 49517458 Chr15(GRCh37):g.49517458A>G 266+7948 266+7948 NM_002044.3:c.266+7948A>G p.? p.? 3 3 137028 7948 5' 69.2843 VIII.19 0.919565 1.57779 69.2843 VIII.19 0.919565 1.57779 0 rs11855665 yes no Frequency/1000G 2 A 0.000000 0 0.002995 0.001500 0.001000 0.000000 0.009900 0.002900 0.005796 0.002472 0.004293 0.001226 0.000000 0.000758 0.010975 0.003307 0.009185 0.010975 892 36 105 10 0 17 654 29 41 153898 14564 24456 8156 11462 22436 59592 8768 4464 0.000078 0.000000 0.000000 0.000000 0.000000 0.000000 0.000201 0.000000 0.000000 6 0 0 0 0 0 6 0 0 880 36 105 10 0 17 642 29 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.382 0.044 255 PASS 0.002 0.0023 . . 0.01 0.0015 0.003 0.0029 . 0.0099 0.001 . . . . . 0.5 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.0708 . . . . . . . . 2.433e-03 . . . 0.0052 0.0021 0 0 . 0.0046 0.0085 0.0011 0.0052 0.0021 0 0 . 0.0046 0.0085 0.0011 . . . . . . UTR3 intronic intronic . . . 0.0030 . . . 0.48 0.35 182 ENSG00000156958 GALK2 GALK2 . . . . . . 569 0.00875708 64976 554 0.00923549 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11855665 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0058 0.0041 0.0013 0 0.0042 0.0116 0.0109 0.0008 0.0026 0.0057 0.0108 0 0 0.0020 0.0090 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs11855665 rs11855665 rs11855665 rs11855665 1 1538 10 1/0 0,255,255 +rs139977930 15 52100604 C T - TMOD2 11872 Tropomodulin 2 (neuronal) NM_014548.3 1 9186 1056 NP_055363.1 Q9NZR1 substitution intron GRCh37 52100604 52100604 Chr15(GRCh37):g.52100604C>T 1022-13 1022-13 NM_014548.3:c.1022-13C>T p.? p.? 10 9 602928 -13 3' 80.0245 8.70314 0.889866 X.48 82.8976 VIII.13 0.93582 X.14 0.0245145 Cryptic Acceptor Weakly Activated 52100617 8.70314 0.889866 80.0245 VIII.13 0.93582 82.8976 rs139977930 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.003000 0.008600 0.003515 0.001129 0.003577 0.000893 0.000000 0.000034 0.005827 0.001750 0.004419 0.005827 961 27 119 9 0 1 732 45 28 273386 23906 33264 10074 18728 29740 125628 25710 6336 0.000015 0.000000 0.000060 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 2 0 1 0 0 0 1 0 0 957 27 117 9 0 1 730 45 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8537 4381 12918 49 9 58 0.00570696 0.00205011 0.00446979 0.00570696 0.00205011 0.00446979 141 transition C T C>T 0.000 0.044 255 PASS . 0.01 0.02 . 0.004 . 0.0018 0.0086 . 0.003 . . . . . . 0.48 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0021 0.0045 0.0057 0.0021 0.0045 0.0057 . 0.6184 . . . . . . . . 3.394e-03 . . . 0.0016 0.0030 0.0044 0 0.0018 0.0048 0.0014 0 0.0015 0.0034 0.0044 0 0.0017 0.0051 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.44 0.4 182 ENSG00000128872 TMOD2 TMOD2 . . . . . . 350 0.0053866 64976 341 0.00568466 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139977930 . . . . . . . . . . . . . . . . . . . . . . . 0.004470 . . . . . 0.0012 0.0035 0.0035 0.0009 0 0.0016 0.0058 0.0049 3.362e-05 0.0010 0.0038 0.0072 0 0 0.0026 0.0061 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs139977930 rs139977930 1 1538 10 1/0 0,255,255 +rs113958096 15 58306348 G A - ALDH1A2 15472 Aldehyde dehydrogenase 1 family, member A2 NM_003888.3 -1 3603 1557 NP_003879.2 O94788 substitution intron GRCh37 58306348 58306348 Chr15(GRCh37):g.58306348G>A 222+27 222+27 NM_003888.3:c.222+27C>T p.? p.? 2 2 603687 27 5' 89.5197 9.78772 0.998589 3.12973 89.5197 9.78772 0.998589 2.88383 0 rs113958096 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008900 0.000000 0.003143 0.000874 0.000989 0.000691 0.000106 0.001495 0.005557 0.001474 0.003097 0.005557 870 21 34 7 2 46 702 38 20 276764 24022 34394 10134 18866 30778 126334 25778 6458 0.000036 0.000000 0.000000 0.000000 0.000000 0.000065 0.000047 0.000000 0.000310 5 0 0 0 0 1 3 0 1 860 21 34 7 2 44 696 38 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4375 12915 44 9 53 0.00512582 0.00205292 0.00408698 0.00512582 0.00205292 0.00408698 70 transition C T C>T 0.000 1.981 255 PASS . 0.0027 . . 0.01 . 0.0018 . . 0.0089 . . . . . . 0.38709676 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . 0.0021 0.0041 0.0051 0.0021 0.0041 0.0051 . 0.3986 . . . . . . . . 3.402e-03 . . . 0.0011 0.0034 0.0010 0.0002 0.0024 0.0061 0 0.0013 0.0010 0.0032 0.0010 0.0001 0.0017 0.0052 0.0014 0.0013 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.66 0.44 182 ENSG00000128918 ALDH1A2 ALDH1A2 . . . . . . 283 0.00435545 64976 274 0.00456773 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113958096 . . . . . . . . . . . . . . . . . . . . . . . 0.004087 . . . . 2.III 0.0009 0.0031 0.0010 0.0007 0.0001 0.0014 0.0054 0.0035 0.0015 0.0008 0.0036 0.0024 0 0 0.0020 0.0064 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs113958096 rs113958096 1 1538 10 1/0 0,255,255 +rs117519179 15 59179344 C T - SLTM 20709 SAFB like transcription modulator NM_024755.3 -1 4170 3105 NP_079031.2 Q9NWH9 substitution intron GRCh37 59179344 59179344 Chr15(GRCh37):g.59179344C>T 2691-26 2691-26 NM_024755.3:c.2691-26G>A p.? p.? 19 18 -26 3' 89.0677 9.80633 0.901832 8.69925 89.0677 9.80633 0.901832 8.90718 0 rs117519179 yes no Frequency/1000G 2 C 0.000000 0 0.004992 0.000000 0.014300 0.001000 0.006000 0.005800 0.004415 0.000167 0.002648 0.015245 0.000053 0.016950 0.003255 0.000156 0.005425 0.016950 1221 4 91 154 1 521 411 4 35 276532 24022 34366 10102 18860 30738 126284 25708 6452 0.000101 0.000000 0.000116 0.000198 0.000000 0.000455 0.000063 0.000000 0.000000 14 0 2 1 0 7 4 0 0 1193 4 87 152 1 507 403 4 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4383 12933 34 1 35 0.00396086 0.000228102 0.00269895 0.00396086 0.000228102 0.00269895 68 transition G A G>A 0.000 -1.247 255 PASS . 0.0041 0.01 0.0017 0.01 . 0.005 0.0058 0.001 0.006 0.014 . . . . . 0.4375 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . 0.0002 0.0027 0.004 0.0002 0.0027 0.004 . -0.0283 . . . . . . . . 4.855e-03 . . . 9.641e-05 0.0062 0.0042 0.0002 0 0.0053 0.0140 0.0171 0.0001 0.0052 0.0043 0.0003 0 0.0040 0.0115 0.0172 . . . . . . intronic intronic intronic . . . 0.0050 . . . 0.47 0.05 182 . SLTM SLTM . . . . . . 218 0.00335508 64976 193 0.00321742 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117519179 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.002699 . . . . . 0.0003 0.0047 0.0026 0.0153 5.801e-05 0.0001 0.0033 0.0057 0.0169 0 0.0018 0.0048 0.0132 0 0.0003 0.0029 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117519179 rs117519179 1 1538 10 1/0 0,255,255 +rs147579391 15 59430501 G T - MYO1E 7599 Myosin IE NM_004998.3 -1 5110 3327 NP_004989.2 Q12965 substitution missense exon GRCh37 59430501 59430501 Chr15(GRCh37):g.59430501G>T 3146 3146 NM_004998.3:c.3146C>A p.Pro1049His p.Pro1049His 27 601479 66 3' 84.9548 XII.96 0.978213 XI.41 84.9548 XII.96 0.978213 12.0487 0 rs147579391 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.008200 0.000000 0.001000 0.000000 0.002125 0.000250 0.001511 0.005813 0.000000 0.007732 0.001713 0.000000 0.002629 0.007732 589 6 52 59 0 238 217 0 17 277190 24022 34418 10150 18868 30780 126694 25792 6466 0.000043 0.000000 0.000116 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 6 0 2 0 0 4 0 0 0 577 6 48 59 0 230 217 0 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4381 12946 17 1 18 0.00198089 0.000228206 0.00138846 0.00198089 0.000228206 0.00138846 119 transversion C A C>A 1.000 6.259 P Pro CCC 0.328 H His CAC 0.587 1049 11 9 Tetraodon -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 208.64 74.33 Deleterious 0 IV.32 255 PASS . . . . . . 0.0018 . . 0.001 0.0082 . MYO1E:uc002aga.4:exon27:c.C3146A:p.P1049H MYO1E:NM_004998:exon27:c.C3146A:p.P1049H . . 0.41379312 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.900 . @ . . . . . 1 0.593 . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P1049H|MYO1E|mRNA|CODING|NM_004998|NM_004998.ex.27) 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . 0.4462 0.582 0.446 c . . . . . 2.344e-03 . . . 9.628e-05 0.0029 0.0021 0 0 0.0024 0.0084 0.008 0.0001 0.0025 0.0021 0 0 0.0020 0.0058 0.0080 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.629 . . exonic exonic exonic . . 0.917 0.0018 . . . 0.55 0.49 182 ENSG00000157483 MYO1E MYO1E . . . 1.0 0.983 . 128 0.00196996 64976 119 0.0019838 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.728 0.077 . . 37 . 0.407 . . 0.350 . . . 0.781 0.810 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.806 . . 0 0 0 0 0 0 . 0.279 . . 0.272 . . . . . . 0 0.912 . . . . . 0.976 . 0.643 . HET 0 rs147579391 . . . . . . . . . . . . 20.0435 2.68E-4 ENST00000288235 V.79 V.79 . 0.000000 Q12965 . . . 0.001388 . 0.919 . . V.79 0.0003 0.0023 0.0015 0.0058 0 0 0.0018 0.0031 0.0077 0.0002 0.0008 0.0024 0.0066 0 0 0.0013 0 . . 0.996 . 2.731 2.731000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.697 1.000 . 0.991 . 0.713 2.731 0.917 0.002 . . rs147579391 rs147579391 1 1538 10 1/0 0,255,255 +rs141565214 15 59519746 T C - MYO1E 7599 Myosin IE NM_004998.3 -1 5110 3327 NP_004989.2 Q12965 substitution missense exon GRCh37 59519746 59519746 Chr15(GRCh37):g.59519746T>C 554 554 NM_004998.3:c.554A>G p.Asp185Gly p.Asp185Gly 7 601479 44 3' 92.8522 8.46877 0.749819 3.98821 92.8522 8.46877 0.749819 3.67585 0 New Donor Site 59519747 1.16048 0.088989 68.1455 Myosin head, motor domain rs141565214 yes no Frequency/1000G 2 T 0.000000 0 0.001997 0.000000 0.009200 0.000000 0.001000 0.000000 0.002103 0.000291 0.000988 0.005713 0.000000 0.007959 0.001784 0.000000 0.002011 0.007959 583 7 34 58 0 245 226 0 13 277216 24032 34420 10152 18870 30782 126706 25788 6466 0.000043 0.000000 0.000000 0.000000 0.000000 0.000325 0.000000 0.000000 0.000309 6 0 0 0 0 5 0 0 1 571 7 34 58 0 235 226 0 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4380 12945 15 0 15 0.00174825 0 0.00115741 0.00174825 0 0.00115741 117 CM156537 Nephrotic syndrome, steroid resistant 25349199 DM transition A G A>G 1.000 5.209 D Asp GAT 0.461 G Gly GGT 0.162 185 11 10 Tetraodon -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 168.08 51.67 Tolerated 0.2 III.97 255 PASS . . . . . . 0.002 . . 0.001 0.0092 . MYO1E:uc002aga.4:exon7:c.A554G:p.D185G MYO1E:NM_004998:exon7:c.A554G:p.D185G . . 0.49315068 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.664 . @ . . . . . 1 0.798 . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D185G|MYO1E|mRNA|CODING|NM_004998|NM_004998.ex.7) . 0.0012 0.0017 . 0.0012 0.0017 . 0.5396 0.612 0.540 c . . . . . 2.407e-03 . . . 9.626e-05 0.0030 0.0004 0 0.0003 0.0025 0.0070 0.0091 0.0001 0.0027 0.0004 0 0.0002 0.0022 0.0058 0.0091 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.870 . . exonic exonic exonic . . 0.975 0.0020 . . . 0.42 0.58 182 ENSG00000157483 MYO1E MYO1E . . . 1.000 0.747 . 78 0.00120044 64976 68 0.0011336 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.721 0.074 . . 37 . 0.871 . . 0.843 . . . 0.331 0.810 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.842 . . 0 0 0 0 0 0 . 0.456 . . 0.487 . . . . . . 0 0.133 . . . . . 0.842 . 0.809 . HET 0.08 rs141565214 . . . . . . . . . . . . 16.5446 0.0 ENST00000288235 6.II 6.II . 0.490000 Q12965 . . . 0.001157 . 0.834 . . 6.II 0.0003 0.0022 0.0010 0.0057 0 0 0.0018 0.0024 0.0080 0.0003 0.0011 0.0024 0.0066 0 0 0.0019 0 . . 0.854 . 2.311 2.311000 . . 0.490000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.886 . 0.807 2.311 0.991 0.0017 . . rs141565214 rs141565214 1 1538 10 1/0 0,255,255 +rs190769225 15 62160069 C A - VPS13C 23594 Vacuolar protein sorting 13 homolog C (S. cerevisiae) NM_020821.2 -1 13421 11262 NP_065872.1 Q709C8 substitution intron GRCh37 62160069 62160069 Chr15(GRCh37):g.62160069C>A 10863+789 10863+789 NM_020821.2:c.10863+789G>T p.? p.? 81 81 608879 789 5' 84.7938 8.39491 0.984796 3.20795 84.7938 8.39491 0.984796 3.20795 0 rs190769225 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.003000 0.000000 0.000000 0.002000 0.002900 0.000937 0.002979 0.000000 0.000000 0.000000 0.000000 0.000067 0.000286 0.001018 0.002979 29 26 0 0 0 0 1 1 1 30942 8728 836 302 1616 0 14986 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 26 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 PASS 39 Genomes 3168 1381 4549 0 3 3 0 0.00216763 0.000659051 0 0.00216763 0.000659051 92 transversion G T G>T 0.992 0.448 255 PASS 0.002 0.0014 0.0028 . 0.0013 0.003 0.0016 0.0029 . 0.002 . . . . . . 0.6296296 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . 0.0022 0.0007 . 0.0022 0.0007 . . 0.8263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0016 . . . 0.62 0.77 182 ENSG00000129003 VPS13C VPS13C . . . . . . 15 0.000230854 64976 7 0.000116694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190769225 . . . . . . . . . . . . . . . . . . . . . . . 0.000659 . . . . . . . . . . . . . . 0.0030 0.0009 0 0 0 0.0003 6.673e-05 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs190769225 rs190769225 1 1538 10 1/0 0,255,255 +rs182064535 15 63620274 C T - CA12 1371 Carbonic anhydrase XII NM_001218.4 -1 4209 1065 NP_001209.1 O43570 substitution intron GRCh37 63620274 63620274 Chr15(GRCh37):g.63620274C>T 907+23 907+23 NM_001218.4:c.907+23G>A p.? p.? 9 9 603263 23 5' 76.7375 7.43136 0.897528 2.88201 76.7375 7.43136 0.897528 3.0103 0 rs182064535 yes no Frequency/1000G 2 C 0.000000 0 0.004393 0.000800 0.011200 0.004000 0.003000 0.004300 0.003773 0.000542 0.001482 0.002366 0.004505 0.016025 0.002357 0.002380 0.002942 0.016025 1044 13 51 24 85 493 298 61 19 276692 23996 34406 10142 18870 30764 126430 25626 6458 0.000072 0.000000 0.000000 0.000000 0.000106 0.000520 0.000000 0.000000 0.000310 10 0 0 0 1 8 0 0 1 1024 13 51 24 83 477 298 61 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4404 12983 21 2 23 0.00244186 0.000453926 0.00176841 0.00244186 0.000453926 0.00176841 58 transition G A G>A 0.000 -1.651 255 PASS 0.002 0.0041 0.01 0.01 0.0026 0.0008 0.0044 0.0043 0.004 0.003 0.011 . . . . . 0.46666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . 0.0005 0.0018 0.0024 0.0005 0.0018 0.0024 . -0.1146 . . . . . . . . 4.254e-03 . . . 0.0009 0.0046 0.0014 0.0036 0.0018 0.0026 0.0014 0.0155 0.0008 0.0046 0.0013 0.0051 0.0021 0.0029 0 0.0155 . . . . . . intronic intronic intronic . . . 0.0044 . . . 0.48 0.3 182 ENSG00000074410 CA12 CA12 . . . . . . 161 0.00247784 64976 140 0.00233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs182064535 . . . . . . . . . . . . . . . . . . . . . . . 0.001768 . . . . . 0.0007 0.0041 0.0015 0.0024 0.0046 0.0023 0.0024 0.0029 0.0160 0.0003 0.0016 0.0012 0 0.0031 0.0032 0.0017 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs182064535 rs182064535 1 1538 10 1/0 0,255,255 +. 15 63988310 A T - HERC1 4867 Hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 NM_003922.3 -1 15197 14586 NP_003913.3 Q15751 substitution intron GRCh37 63988310 63988310 Chr15(GRCh37):g.63988310A>T 5121+13 5121+13 NM_003922.3:c.5121+13T>A p.? p.? 27 27 605109 13 5' 89.9194 X.02 0.962758 3.77285 89.9194 X.02 0.962758 3.17967 0 transversion T A T>A 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.5588235 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||HERC1|mRNA|CODING|NM_003922|) . . . . . . . 0.5835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000259589 HERC1 HERC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs750477205 15 66787577 T G - MIR4512 41701 MicroRNA 4512 NR_039737.1 -1 77 0 substitution downstream GRCh37 66787577 66787577 Chr15(GRCh37):g.66787577T>G *1719 *1719 NR_039737.1:n.*1719A>C p.? p.? 1 transversion A C A>C 0.000 -0.279 231 PASS . . . . . . . . . . . . . . . . 0.24691358 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . 0.0309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000174446 SNAPC5 SNAPC5 ENST00000568875:c.*19A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs750477205 15 66787577 T G - SNAPC5 15484 Small nuclear RNA activating complex polypeptide 5 NM_001329615.1 -1 1349 297 NP_001316544.1 O75971 substitution intron GRCh37 66787577 66787577 Chr15(GRCh37):g.66787577T>G 180+91 180+91 NM_001329615.1:c.180+91A>C p.? p.? 2 2 605979 91 5' 78.5517 6.15857 0.959236 1.13503 78.5517 6.15857 0.959236 1.13503 0 Cryptic Acceptor Strongly Activated 66787568 I.56 0.002136 64.8202 1.90851 0.020915 67.8167 transversion A C A>C 0.000 -0.279 231 PASS . . . . . . . . . . . . . . . . 0.24691358 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . 0.0309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000174446 SNAPC5 SNAPC5 ENST00000568875:c.*19A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 15 66787579 T G - MIR4512 41701 MicroRNA 4512 NR_039737.1 -1 77 0 substitution downstream GRCh37 66787579 66787579 Chr15(GRCh37):g.66787579T>G *1717 *1717 NR_039737.1:n.*1717A>C p.? p.? 1 transversion A C A>C 0.000 0.690 195 PASS . . . . . . . . . . . . . . . . 0.14666666 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.2723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000174446 SNAPC5 SNAPC5 ENST00000568875:c.*17A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 15 66787579 T G - SNAPC5 15484 Small nuclear RNA activating complex polypeptide 5 NM_001329615.1 -1 1349 297 NP_001316544.1 O75971 substitution intron GRCh37 66787579 66787579 Chr15(GRCh37):g.66787579T>G 180+89 180+89 NM_001329615.1:c.180+89A>C p.? p.? 2 2 605979 89 5' 78.5517 6.15857 0.959236 1.13503 78.5517 6.15857 0.959236 1.13503 0 Cryptic Acceptor Strongly Activated 66787568 I.56 0.002136 64.8202 2.43952 0.016328 67.2836 transversion A C A>C 0.000 0.690 195 PASS . . . . . . . . . . . . . . . . 0.14666666 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.2723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000174446 SNAPC5 SNAPC5 ENST00000568875:c.*17A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs146831581 15 70371515 T G - MIR629 32885 MicroRNA 629 NR_030714.1 -1 97 0 substitution downstream GRCh37 70371515 70371515 Chr15(GRCh37):g.70371515T>G *196 *196 NR_030714.1:n.*196A>C p.? p.? 1 rs146831581 yes no Frequency/1000G 2 T 0.000000 0 0.005990 0.000000 0.015300 0.000000 0.011900 0.004300 0.004830 0.000804 0.005967 0.019868 0.000000 0.000000 0.008040 0.001433 0.006122 0.019868 149 7 5 6 0 0 120 5 6 30850 8702 838 302 1614 0 14926 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 149 7 5 6 0 0 120 5 6 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transversion A C A>C 0.000 -0.198 255 PASS . 0.01 0.01 . 0.02 . 0.006 0.0043 . 0.012 0.015 . . . . . 0.7096774 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.6317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.17 0.19 182 ENSG00000140332 TLE3 TLE3 . . . . . . 580 0.00892637 64976 550 0.00916881 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs146831581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0048 0.0060 0.0199 0 0.0014 0.0080 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs146831581 rs146831581 1 1538 10 1/0 0,255,255 +rs146831581 15 70371515 T G - TLE3 11839 Transducin-like enhancer of split 3 NM_005078.3 -1 5745 2319 NP_005069.2 Q04726 substitution intron GRCh37 70371515 70371515 Chr15(GRCh37):g.70371515T>G 235-3018 235-3018 NM_005078.3:c.235-3018A>C p.? p.? 5 4 600190 -3018 3' 87.2636 X.37 0.949655 8.77627 87.2636 X.37 0.949655 8.77627 0 Cryptic Acceptor Strongly Activated 70371501 0.011675 0.363013 0.052714 67.4151 rs146831581 yes no Frequency/1000G 2 T 0.000000 0 0.005990 0.000000 0.015300 0.000000 0.011900 0.004300 0.004830 0.000804 0.005967 0.019868 0.000000 0.000000 0.008040 0.001433 0.006122 0.019868 149 7 5 6 0 0 120 5 6 30850 8702 838 302 1614 0 14926 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 149 7 5 6 0 0 120 5 6 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transversion A C A>C 0.000 -0.198 255 PASS . 0.01 0.01 . 0.02 . 0.006 0.0043 . 0.012 0.015 . . . . . 0.7096774 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.6317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.17 0.19 182 ENSG00000140332 TLE3 TLE3 . . . . . . 580 0.00892637 64976 550 0.00916881 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs146831581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0048 0.0060 0.0199 0 0.0014 0.0080 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs146831581 rs146831581 1 1538 10 1/0 0,255,255 +rs537372298 15 71839679 G A - THSD4 25835 Thrombospondin, type I, domain containing 4 NM_024817.2 1 9145 3057 NP_079093.2 Q6ZMP0 substitution intron GRCh37 71839679 71839679 Chr15(GRCh37):g.71839679G>A 1153-113190 1153-113190 NM_024817.2:c.1153-113190G>A p.? p.? 7 6 614476 -113190 3' 91.5616 XII.34 0.983048 XII.94 91.5616 XII.34 0.983048 XII.94 0 Cryptic Acceptor Strongly Activated 71839692 0.004089 0.628346 0.002068 63.7903 rs537372298 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.003584 0.001146 0.000000 0.000000 0.000000 0.000000 0.005531 0.003148 0.007128 0.005531 111 10 0 0 0 0 83 11 7 30970 8726 838 302 1622 0 15006 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 10 0 0 0 0 83 11 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 1.000 3.353 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.3409091 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . I.76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.0002 . . . . . . ENSG00000187720 THSD4 THSD4 ENST00000357769:c.-70G>A . NM_001286429:c.-70G>A . . . 3406 0.0524194 64976 3405 0.0567632 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs537372298 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv904334 . . . . . 4.VIII . . . . . . . . . 0.0011 0.0036 0 0 0 0.0031 0.0055 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781381893 (chr15:72932342 A/G) 15 72932342 A G Not on a known gene +rs62015899 (chr15:72934368 C/G) 15 72934368 C G Not on a known gene +rs201808410 15 72953667 G A - GOLGA6B 32205 Golgin A6 family, member B NM_018652.4 1 3178 2082 NP_061122.4 A6NDN3 substitution synonymous exon GRCh37 72953667 72953667 Chr15(GRCh37):g.72953667G>A 627 627 NM_018652.4:c.627G>A p.Ala209= p.Ala209Ala 8 -25 5' 90.6189 10.0684 0.983268 13.6579 90.6189 10.0684 0.983268 13.6007 0 rs201808410 yes no Frequency 1 G 0.000000 0 0.005309 0.001954 0.002423 0.000600 0.000053 0.000423 0.008798 0.006896 0.005814 0.008798 1438 45 83 6 1 13 1085 168 37 270858 23032 34256 10002 18802 30718 123322 24362 6364 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1436 45 83 6 1 13 1083 168 37 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 5152 2906 8058 44 8 52 0.00846805 0.00274537 0.00641184 0.00846805 0.00274537 0.00641184 55 transition G A G>A 0.646 -2.539 A Ala GCG 0.107 A Ala GCA 0.226 209 234 PASS . . . . . . . . . . . ENSG00000215186:ENST00000421285:exon8:c.G627A:p.A209A GOLGA6B:uc010uks.1:exon8:c.G627A:p.A209A GOLGA6B:NM_018652:exon8:c.G627A:p.A209A . . 0.2556391 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 133.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A209|GOLGA6B|mRNA|CODING|NM_018652|NM_018652.ex.8) 0.0027 0.0064 0.0085 0.0027 0.0064 0.0085 . -0.8615 . . . . . . . . 8.115e-03 . . . 0.0026 0.0072 0.0033 0.0006 0.0096 0.0128 0.0044 0.0008 0.0027 0.0073 0.0032 0.0004 0.0094 0.0118 0.0059 0.0007 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.37 182 ENSG00000215186 GOLGA6B GOLGA6B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201808410 . . . . . . . . . . . . . . . . . . . . . . . 0.006412 . . . . . 0.0013 0.0050 0.0023 0.0006 5.821e-05 0.0066 0.0086 0.0052 0.0004 0.0030 0.0074 0.0072 0 0 0.0086 0.0106 0.0092 . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.0085 . . rs201808410 rs201808410 1 1538 10 1/0 0,228,255 +rs539541365 15 72957437 C G - GOLGA6B 32205 Golgin A6 family, member B NM_018652.4 1 3178 2082 NP_061122.4 A6NDN3 substitution intron GRCh37 72957437 72957437 Chr15(GRCh37):g.72957437C>G 1593+61 1593+61 NM_018652.4:c.1593+61C>G p.? p.? 14 14 61 5' 80.6382 9.43568 0.942942 X.79 80.6382 9.43568 0.942942 X.86 0 rs539541365 yes no Frequency/1000G 2 C 0.000000 0 0.044329 0.021200 0.064400 0.041700 0.065600 0.033100 0.003506 0.003237 0.001404 0.006897 0.002415 0.000000 0.003600 0.004325 0.003409 0.006897 94 22 1 2 3 0 50 13 3 26814 6796 712 290 1242 0 13888 3006 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 94 22 1 2 3 0 50 13 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion C G C>G 0.165 1.255 192 PASS . . . . . 0.021 0.044 0.033 0.042 0.066 0.064 . . . . . 0.14035088 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . INTRON(MODIFIER||||GOLGA6B|mRNA|CODING|NM_018652|) . . . . . . . -0.2895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0443 . . . 0.29 0.12 182 ENSG00000215186 GOLGA6B GOLGA6B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs539541365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0035 0.0014 0.0069 0.0024 0.0043 0.0036 0.0034 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs2740414 rs2740414 rs2740414 rs2740414 1 1538 10 1/0 0,224,255 +rs192808708 15 73635662 C A - HCN4 16882 Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 NM_005477.2 -1 7228 3612 NP_005468.1 Q9Y3Q4 substitution intron GRCh37 73635662 73635662 Chr15(GRCh37):g.73635662C>A 1209+64 1209+64 NM_005477.2:c.1209+64G>T p.? p.? 2 2 605206 64 5' 96.9453 11.0785 0.997818 9.90775 96.9453 11.0785 0.997818 9.93523 0 rs192808708 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008000 0.002900 0.003328 0.000688 0.000000 0.003311 0.000000 0.000000 0.005337 0.003721 0.003061 0.005337 103 6 0 1 0 0 80 13 3 30948 8722 838 302 1622 0 14990 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 6 0 1 0 0 80 13 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 0.000 0.609 255 PASS . 0.0023 0.01 . 0.004 . 0.002 0.0029 . 0.008 . . . . . . 0.5289256 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . INTRON(MODIFIER||||HCN4|mRNA|CODING|NM_005477|) . . . . . . . 0.1254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.41 0.25 182 ENSG00000138622 HCN4 HCN4 . . . . . . 195 0.00300111 64976 185 0.00308405 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192808708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0033 0 0.0033 0 0.0037 0.0053 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs192808708 rs192808708 1 1538 10 1/0 0,248,254 +. 15 74370139 A G - GOLGA6A 13567 Golgin A6 family, member A NM_001038640.2 -1 3176 2082 NP_001033729.2 Q9NYA3 substitution intron GRCh37 74370139 74370139 Chr15(GRCh37):g.74370139A>G 286-45 286-45 NM_001038640.2:c.286-45T>C p.? p.? 4 3 610288 -45 3' 79.5333 9.30898 0.909948 9.28097 79.5333 9.30898 0.909948 9.24665 0 0.000148 0.000804 0.000000 0.000000 0.000000 0.000000 0.000098 0.000000 0.000000 0.000804 3 2 0 0 0 0 1 0 0 20338 2488 1500 240 1352 714 10176 3164 704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.360 203 PASS . . . . . . . . . . . . . . . . 0.16853933 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||GOLGA6A|mRNA|CODING|NM_001038640|) . . . . . . . -0.2881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000159289 GOLGA6A GOLGA6A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 0.0002 0 0 0 0 0 0 0 0.0004 0.0001 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs4335750 rs4335750 rs4335750 rs4335750 1 1538 10 1/0 0,238,255 +rs771081660 (chr15:74387552 G/C) 15 74387552 G C Not on a known gene +. (chr15:74389578 T/C) 15 74389578 T C Not on a known gene +rs183039083 15 74421025 C T - ISLR2 29286 Immunoglobulin superfamily containing leucine-rich repeat 2 NM_001130138.1 1 4261 2238 NP_001123610.1 Q6UXK2 substitution upstream GRCh37 74421025 74421025 Chr15(GRCh37):g.74421025C>T -1778 -1778 NM_001130138.1:c.-1778C>T p.? p.? 1 614179 -1592 5' 76.0828 5.87573 0.820886 1.37612 76.0828 5.87573 0.820886 1.37612 0 rs183039083 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.015100 0.000000 0.000000 0.000000 0.001400 0.002782 0.014718 0.001028 0.001820 0.000000 0.000000 0.002648 0.001024 0.001543 0.014718 439 215 25 15 0 0 168 9 7 157824 14608 24328 8244 11442 22432 63442 8790 4538 0.000051 0.000548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 4 0 0 0 0 0 0 0 431 207 25 15 0 0 168 9 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.044 255 PASS 0.02 0.01 0.0028 . . 0.015 0.0042 0.0014 . . . ENSG00000248540:ENST00000563727:exon1:c.G53A:p.R18K . . . . 0.42553192 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.8051 . . . . . . . . 1.019e-03 . . . 0.0210 0.0008 0 0 . 0.0014 0 0 0.0204 0.0007 0 0 . 0.0015 0 0 nonsynonymous_SNV . . . . . exonic intronic ncRNA_intronic . . . 0.0042 . . . 0.17 0.51 182 ENSG00000248540 LOC283731 LOC283731 . . . . . . 114 0.00175449 64976 93 0.00155036 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183039083 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0144 0.0019 0.0011 0.0018 0 0.0008 0.0024 0.0008 0 0.0149 0.0062 0 0.0033 0 0.0014 0.0035 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs183039083 rs183039083 1 1538 10 1/0 0,255,255 +. 15 74659644 T G - CYP11A1 2590 Cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781.2 -1 1931 1566 NP_000772.2 P05108 substitution intron GRCh37 74659644 74659644 Chr15(GRCh37):g.74659644T>G 269+14 269+14 NM_000781.2:c.269+14A>C p.? p.? 1 1 118485 14 5' 94.2214 9.88355 0.998299 8.72904 94.2214 9.88355 0.998299 9.08196 0 transversion A C A>C 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.5327869 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.3414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000140459 CYP11A1 CYP11A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +rs112365833 (chr15:75524822 G/A) 15 75524822 G A Not on a known gene +. 15 75554758 G A - GOLGA6C 32206 Golgin A6 family, member C NM_001164404.1 1 5379 2082 NP_001157876.1 A6NDK9 substitution synonymous exon GRCh37 75554758 75554758 Chr15(GRCh37):g.75554758G>A 210 210 NM_001164404.1:c.210G>A p.Gln70= p.Gln70Gln 3 6 3' 74.7894 7.09835 0.144973 5.56391 74.7894 7.09835 0.099336 5.73282 -0.104932 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.984 0.448 Q Gln CAG 0.744 Q Gln CAA 0.256 70 190 PASS . . . . . . . . . . . ENSG00000167195:ENST00000300576:exon3:c.G210A:p.Q70Q GOLGA6C:uc002azs.2:exon3:c.G210A:p.Q70Q GOLGA6C:NM_001164404:exon3:c.G210A:p.Q70Q . . 0.1369863 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q70|GOLGA6C|mRNA|CODING|NM_001164404|NM_001164404.ex.3) . . . . . . . -0.2937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167195 GOLGA6C GOLGA6C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 15 75559279 C T - GOLGA6C 32206 Golgin A6 family, member C NM_001164404.1 1 5379 2082 NP_001157876.1 A6NDK9 substitution synonymous exon GRCh37 75559279 75559279 Chr15(GRCh37):g.75559279C>T 1405 1405 NM_001164404.1:c.1405C>T p.Leu469= p.Leu469Leu 12 -21 5' 75.4126 4.40925 0.310374 8.27118 75.4126 4.40925 0.310374 VII.81 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 1.000 1.577 L Leu CTG 0.404 L Leu TTG 0.127 469 188 PASS . . . . . . . . . . . ENSG00000167195:ENST00000300576:exon12:c.C1405T:p.L469L GOLGA6C:uc002azs.2:exon12:c.C1405T:p.L469L GOLGA6C:NM_001164404:exon12:c.C1405T:p.L469L . . 0.13114753 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L469|GOLGA6C|mRNA|CODING|NM_001164404|NM_001164404.ex.12) . . . . . . . 0.0114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.33 182 ENSG00000167195 GOLGA6C GOLGA6C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs62005667 rs62005667 rs62005667 rs62005667 1 1538 10 1/0 0,250,255 +rs777600977 15 75561321 T G - GOLGA6C 32206 Golgin A6 family, member C NM_001164404.1 1 5379 2082 NP_001157876.1 A6NDK9 substitution intron GRCh37 75561321 75561321 Chr15(GRCh37):g.75561321T>G 1593+92 1593+92 NM_001164404.1:c.1593+92T>G p.? p.? 14 14 92 5' 80.6382 9.43568 0.942942 X.25 80.6382 9.43568 0.942942 X.25 0 rs777600977 no no 0 0.000000 0 0.009130 0.028098 0.004178 0.012000 0.002072 0.000000 0.001882 0.001620 0.000000 0.028098 226 190 3 3 3 0 22 5 0 24754 6762 718 250 1448 0 11690 3086 800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 226 190 3 3 3 0 22 5 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transversion T G T>G 0.236 -0.763 197 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . INTRON(MODIFIER||||GOLGA6C|mRNA|CODING|NM_001164404|) . . . . . . . -0.5913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167195 GOLGA6C GOLGA6C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs777600977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0281 0.0091 0.0042 0.012 0.0021 0.0016 0.0019 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +rs754579570 15 75579039 G A - GOLGA6D 32204 Golgin A6 family, member D NM_001145224.1 1 3449 2082 NP_001138696.1 P0CG33 substitution synonymous exon GRCh37 75579039 75579039 Chr15(GRCh37):g.75579039G>A 210 210 NM_001145224.1:c.210G>A p.Gln70= p.Gln70Gln 3 6 3' 74.7894 7.09835 0.144973 5.56391 74.7894 7.09835 0.099336 5.73282 -0.104932 rs754579570 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 1.000 1.255 Q Gln CAG 0.744 Q Gln CAA 0.256 70 199 PASS . . . . . . . . . . . ENSG00000140478:ENST00000434739:exon3:c.G210A:p.Q70Q GOLGA6D:uc010uma.2:exon3:c.G210A:p.Q70Q GOLGA6D:NM_001145224:exon3:c.G210A:p.Q70Q . . 0.15853658 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q70|GOLGA6D|mRNA|CODING|NM_001145224|NM_001145224.ex.3) . . . . . . . 0.3880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140478 GOLGA6D GOLGA6D . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754579570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 15 75583167 G T - GOLGA6D 32204 Golgin A6 family, member D NM_001145224.1 1 3449 2082 NP_001138696.1 P0CG33 substitution synonymous exon GRCh37 75583167 75583167 Chr15(GRCh37):g.75583167G>T 1293 1293 NM_001145224.1:c.1293G>T p.Ala431= p.Ala431Ala 11 -64 5' 77.0459 6.28946 0.056153 9.40968 77.0459 6.28946 0.056153 9.02631 0 Cryptic Acceptor Strongly Activated 75583177 4.41816 0.151396 79.3169 5.IX 0.449344 82.9743 transversion G T G>T 0.961 -1.005 A Ala GCG 0.107 A Ala GCT 0.263 431 221 PASS . . . . . . . . . . . ENSG00000140478:ENST00000434739:exon11:c.G1293T:p.A431A GOLGA6D:uc010uma.2:exon11:c.G1293T:p.A431A GOLGA6D:NM_001145224:exon11:c.G1293T:p.A431A . . 0.2195122 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcT|A431|GOLGA6D|mRNA|CODING|NM_001145224|NM_001145224.ex.11) . . . . . . . -0.5851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.39 182 ENSG00000140478 GOLGA6D GOLGA6D . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . rs71411078 rs71411078 rs71411078 1 1538 10 1/0 0,255,255 +rs62029712 15 75651040 T C - MAN2C1 6827 Mannosidase, alpha, class 2C, member 1 NM_001256494.1 -1 3332 3174 NP_001243423.1 substitution splice site GRCh37 75651040 75651040 Chr15(GRCh37):g.75651040T>C 2297+5 2297+5 NM_001256494.1:c.2297+5A>G p.? p.? 19 19 154580 5 5' 63.4351 5.26684 0.091378 5.27289 75.5866 8.47241 0.97578 6.35641 III.29 Cryptic Donor Strongly Activated 75651045 5.26684 0.091378 63.4351 8.47241 0.97578 75.5866 rs62029712 yes no Frequency/1000G 2 T 0.000000 0 0.000045 0.000133 0.000000 0.000000 0.000093 0.000041 0.000032 0.000097 0.000000 0.000133 9 2 0 0 1 1 3 2 0 202062 15044 23300 8500 10784 24478 94908 20546 4502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 0 1 1 3 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3956924|COSM3956924|COSM3956924 Lung|Large intestine|Haematopoietic and lymphoid tissue 0.000419|0.000448|0.000567 2389|2231|3530 transition A G A>G 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . 0.4703 . . . . . . . . 2.289e-04 . . . 0.0001 0.0002 0 0.0002 0 0.0003 0 6.3e-05 0.0001 0.0002 0 0.0001 0.0002 0.0003 0 6.339e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.14 182 ENSG00000140400 MAN2C1 MAN2C1 . . . . . . 1920 0.0295494 64976 1920 0.0320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs62029712 . . . . . . . . . . . . . . . . . . . . 0.0002 0.012 . . . . . . . 8.905e-05 4.29e-05 0 0 9.531e-05 0.0001 3.407e-05 0 4.085e-05 0.0003 6.417e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62029712 rs62029712 rs62029712 rs62029712 1 1538 10 1/0 0,249,255 +rs774975147 15 75971112 C T - CSPG4 2466 Chondroitin sulfate proteoglycan 4 NM_001897.4 -1 8290 6969 NP_001888.2 Q6UVK1 substitution intron GRCh37 75971112 75971112 Chr15(GRCh37):g.75971112C>T 4951-885 4951-885 NM_001897.4:c.4951-885G>A p.? p.? 9 8 601172 -885 3' 76.794 10.649 0.952127 IX.81 76.794 10.649 0.952127 IX.81 0 rs774975147 yes no Frequency 1 C 0.000000 0 0.000427 0.000000 0.000041 0.003061 0.000000 0.000000 0.000632 0.000114 0.000223 0.003061 66 0 1 25 0 0 38 1 1 154480 14562 24444 8166 11470 22444 60114 8802 4478 0.000013 0.000000 0.000000 0.000245 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 64 0 1 23 0 0 38 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.367 255 PASS . . . . . . . . . . . ENSG00000203392:ENST00000435356:exon1:c.C272T:p.S91F . . . . 0.41095892 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . INTRON(MODIFIER||||CSPG4|mRNA|CODING|NM_001897|) . . . . . . . -0.5855 . . . . . . . . 4.390e-04 . . . 0 0.0006 0 0 . 0.0022 0 0 0 0.0006 0 0 . 0.0022 0 0 nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000203392 CSPG4 CSPG4 . . . . . . 13 0.000200074 64976 13 0.000216717 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs774975147 . . . . . . . . . . . . IV.77 . ENST00000435356 I.97 1.III . 0.000000 . . . . . . . . . . 0 0.0004 4.236e-05 0.0029 0 0 0.0007 0.0003 0 0 0.0004 0 0.0066 0 0.0003 0.0005 0 . . . . 0.403 0.403000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.403 . . . . . . 1 1538 10 1/0 0,255,255 +rs751712417 15 76054552 A G - MIR4313 38310 MicroRNA 4313 NR_036198.1 -1 101 0 substitution downstream GRCh37 76054552 76054552 Chr15(GRCh37):g.76054552A>G *4 *4 NR_036198.1:n.*4T>C p.? p.? 1 rs751712417 yes no Frequency 1 0.000000 0 0.000423 0.000569 0.001096 0.000000 0.000000 0.000000 0.000417 0.000000 0.000945 0.001096 15 5 1 0 0 0 8 0 1 35478 8788 912 444 1610 84 19180 3402 1058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 5 1 0 0 0 8 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -1.167 181 PASS . . . . . . . . . . . . . . . . 0.11578947 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . DOWNSTREAM(MODIFIER||||MIR4313|Non-coding_transcript|NON_CODING|NR_036198|) . . . . . . . -0.6621 . . . . . . . . 2.440e-03 . . . 0.0123 0.0085 0.0122 0 0 0.0081 0 0 0 0 0 0 0 0 . 0 . . . . . . ncRNA_exonic downstream downstream . . . @ . . . . . . ENSG00000261043 MIR4313 MIR4313 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs751712417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0009 0 0 0 0 0.0008 0.0091 0 0.0006 0.0003 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +. 15 77234101 C CT - RCN2 9935 Reticulocalbin 2, EF-hand calcium binding domain NM_001271837.1 1 2267 1008 NP_001258766.1 duplication intron GRCh37 77234114 77234115 Chr15(GRCh37):g.77234114dup 501+83 501+83 NM_001271837.1:c.501+83dup p.? p.? 4 4 602584 83 5' 76.9374 5.19762 0.425506 0 76.9374 5.19762 0.425506 0 0 rs368257080 yes no Frequency 1 0.000000 0 0.007640 0.003588 0.021645 0.004310 0.002554 0.000000 0.003805 0.072402 0.021798 0.072402 196 29 10 1 4 0 51 85 16 25654 8082 462 232 1566 0 13404 1174 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 196 29 10 1 4 0 51 85 16 0 0 0 0 0 0 0 0 0 RF 44 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.64 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000117906 RCN2 RCN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368257080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0076 0.0216 0.0043 0.0026 0.0724 0.0038 0.0218 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,19 +rs141227274 15 77329409 C T - PSTPIP1 9580 Proline-serine-threonine phosphatase interacting protein 1 NM_001321137.1 1 1855 1446 NP_001308066.1 substitution synonymous exon GRCh37 77329409 77329409 Chr15(GRCh37):g.77329409C>T 1338 1338 NM_001321137.1:c.1338C>T p.Ser446= p.Ser446Ser 16 606347 24 3' 76.0487 4.50136 0.34837 7.48342 76.0487 4.50136 0.34837 7.31926 0 rs141227274 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.001678 0.000502 0.000291 0.000991 0.000318 0.000617 0.002206 0.004589 0.001713 0.004589 462 12 10 10 6 19 276 118 11 275294 23914 34406 10094 18854 30776 125112 25716 6422 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 460 12 8 10 6 19 276 118 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8322 4026 12348 16 2 18 0.00191893 0.000496524 0.0014556 0.00191893 0.000496524 0.0014556 84 RCV000329781.1 germline clinical testing Likely benign 1 Pyogenic arthritis, pyoderma gangrenosum and acne transition C T C>T 0.031 -1.247 S Ser TCC 0.220 S Ser TCT 0.185 446 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0004 . . 0.001 . . . PSTPIP1:NM_003978:exon15:c.C1143T:p.S381S . . 0.49006623 . . germline 74 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Likely//\@benign Likely_benign RCV000329781.1 . MedGen:OMIM:Orphanet C1858361:604416:ORPHA69126 2 . . . 151.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S381|PSTPIP1|mRNA|CODING|NM_003978|NM_003978.ex.15) 0.0005 0.0015 0.0019 0.0005 0.0015 0.0019 . 0.0919 . . . . . . . . 1.380e-03 . . . 0.0002 0.0012 8.688e-05 0.0004 0.0053 0.0017 0.0015 0.0004 0.0002 0.0012 8.945e-05 0.0003 0.0051 0.0015 0.0015 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.45 0.47 182 ENSG00000140368 PSTPIP1 PSTPIP1 . . . . . . 75 0.00115427 64976 73 0.00121695 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141227274 . . . . . . . . . . . . . . . . . . . . . . . 0.001456 . . . . . 0.0004 0.0014 0.0003 0.0010 0.0003 0.0047 0.0017 0.0007 0.0006 0.0007 0.0036 0 0 0 0.0040 0.0056 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs141227274 rs141227274 1 1538 10 1/0 0,240,255 +rs376678630 (chr15:78213892 C/T) 15 78213892 C T Not on a known gene +rs368507265 (chr15:78213910 T/A) 15 78213910 T A Not on a known gene +rs141194056 15 79603760 G A - TMED3 28889 Transmembrane p24 trafficking protein 3 NM_007364.3 1 1475 654 NP_031390.1 Q9Y3Q3 substitution splice site GRCh37 79603760 79603760 Chr15(GRCh37):g.79603760G>A 168+1 168+1 NM_007364.3:c.168+1G>A p.? p.? 1 1 1 5' 90.6189 10.0684 0.993216 13.1074 0 0 0 0 -1 rs141194056 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.003372 0.000586 0.000923 0.005066 0.000000 0.000726 0.004627 0.007995 0.004784 0.007995 872 13 31 49 0 21 537 192 29 258602 22188 33602 9672 18082 28926 116056 24014 6062 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 2 0 0 0 0 0 2 0 0 868 13 31 49 0 21 533 192 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4387 12929 38 3 41 0.0044289 0.000683371 0.00316114 0.0044289 0.000683371 0.00316114 20 transition G A G>A 1.000 4.725 255 PASS . 0.0009 . . 0.0026 . 0.0002 . . 0.001 . . . . . . 0.43243244 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.796 . @ . . . . . 0 0.655 . . 74.0 . . . 0.0007 0.0032 0.0044 0.0007 0.0032 0.0044 . 1.1578 0.991 1.158 c . . . . . 2.891e-03 . . . 0.0003 0.0040 0.0011 0 0.0142 0.0068 0.0044 0.0010 0.0004 0.0035 0.0010 0 0.0114 0.0052 0.0050 0.0010 . . . . . . splicing splicing splicing . . 0.593 0.0002 . . . 0.35 0.44 182 ENSG00000166557 TMED3 TMED3 . . . 1.0 0.983 . 207 0.00318579 64976 206 0.00343413 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . 0.730 . . . HET . rs141194056 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 15.2404 5.35E-4 . IV.73 IV.73 . . . 1.0000 0.94 . 0.003161 . 0.749 . . IV.73 0.0004 0.0032 0.0009 0.0048 0 0.0078 0.0045 0.0037 0.0007 0.0009 0.0045 0.0012 0.0132 0 0.0092 0.0057 0.0102 . . 0.018 . 2.442 2.442000 . . . . . 1.0E-255 1.000 0.715 . 0.562 0.934 . 0.934 . 0.605 2.442 0.917 0.0044 . . rs141194056 rs141194056 1 1538 10 1/0 0,255,255 +. 15 82593434 C A - ADAMTS7P1 49407 ADAMTS7 pseudogene 1 NR_045529.1 1 5032 0 substitution exon GRCh37 82593434 82593434 Chr15(GRCh37):g.82593434C>A 504 504 NR_045529.1:n.504C>A 3 -71 5' 83.7411 9.54919 0.989737 5.88299 83.7411 9.54919 0.989737 5.31132 0 transversion C A C>A 0.992 2.385 255 PASS . . . . . . . . . . . . . . . . 0.5809524 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 105.0 . . STOP_GAINED(HIGH|NONSENSE|taC/taA|Y168*|ADAMTS7P1|Non-coding_transcript|NON_CODING|NR_045529|NR_045529.ex.3) . . . . . . . 0.7873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.5 182 ENSG00000259785 LOC390660 ADAMTS7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62617855 rs62617855 rs62617855 rs62617855 1 1538 10 1/0 0,255,255 +. 15 82608638 C T - ADAMTS7P1 49407 ADAMTS7 pseudogene 1 NR_045529.1 1 5032 0 substitution intron GRCh37 82608638 82608638 Chr15(GRCh37):g.82608638C>T 1127-68 1127-68 NR_045529.1:n.1127-68C>T p.? p.? 9 8 -68 3' 72.4038 7.75404 0.439663 5.75314 72.4038 7.75404 0.439663 5.743 0 transition C T C>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.46938777 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . INTRON(MODIFIER||||ADAMTS7P1|Non-coding_transcript|NON_CODING|NR_045529|) . . . . . . . -0.3496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.47 182 ENSG00000259785 LOC390660 ADAMTS7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34017158 rs34017158 rs34017158 rs34017158 1 1538 10 1/0 0,255,255 +. (chr15:82636686 G/A) 15 82636686 G A Not on a known gene +. (chr15:82638130 G/A) 15 82638130 G A Not on a known gene +. (chr15:82641553 T/C) 15 82641553 T C Not on a known gene +. 15 82722301 G A - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution missense exon GRCh37 82722301 82722301 Chr15(GRCh37):g.82722301G>A 17 17 NM_198181.3:c.17G>A p.Arg6His p.Arg6His 1 -68 5' 82.2129 8.37568 0.951569 VIII.65 82.2129 8.37568 0.951569 8.18155 0 transition G A G>A 0.000 -0.521 R Arg CGC 0.190 H His CAC 0.587 6 12 2 Chimp 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.54 III.39 255 PASS . . . . . . . . . . . ENSG00000197978:ENST00000300515:exon1:c.G17A:p.R6H GOLGA6L9:uc010blt.3:exon1:c.G17A:p.R6H GOLGA6L9:NM_198181:exon1:c.G17A:p.R6H . . 0.71428573 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 7.0 . . . . . . . . . . -1.0161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000197978 GOLGA6L9 GOLGA6L9 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . . . ENST00000300515 0.311 -0.622 . 0.300000 A6NEM1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.520 -0.520000 . . 0.300000 . . 1.0E-255 . . . . . . . . . -0.520 . . . . . . 1 1538 10 1/0 0,255,255 +rs62011155 15 82724657 G T - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution intron GRCh37 82724657 82724657 Chr15(GRCh37):g.82724657G>T 205-116 205-116 NM_198181.3:c.205-116G>T p.? p.? 3 2 -116 3' 73.7117 0 0.000793 0 73.7117 0 0.000793 0 0 rs62011155 no no 0 G 0.000000 0 transversion G T G>T 0.055 0.205 255 PASS . . . . . . . . . . . . . . . . 0.43396226 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.3572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . . GOLGA6L9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62011155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62011155 rs62011155 rs62011155 rs62011155 1 1538 10 1/0 0,255,255 +. 15 82724986 T C - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution intron GRCh37 82724986 82724986 Chr15(GRCh37):g.82724986T>C 265-32 265-32 NM_198181.3:c.265-32T>C p.? p.? 4 3 -32 3' 72.9796 6.75121 0.161505 4.54975 72.9796 6.75121 0.161505 4.76492 0 transition T C T>C 0.016 -1.732 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . -0.7553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . . GOLGA6L9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs76059359 rs76059359 1 1538 255 1.I 0,0,255 +rs62011761 15 82725760 C T - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution splice site GRCh37 82725760 82725760 Chr15(GRCh37):g.82725760C>T 346-3 346-3 NM_198181.3:c.346-3C>T p.? p.? 5 4 -3 3' 88.2666 8.39509 0.953233 X.61 82.0898 7.83346 0.966023 7.63917 -0.0411535 Cryptic Donor Strongly Activated 82725758 74.0731 6.85751 0.742712 76.8306 rs62011761 no no 0 C 0.000000 0 transition C T C>T 0.008 0.367 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.1971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . . GOLGA6L9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62011761 . . . . . . . . . . . . . . . . . . . . 0.0014 0.128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62011761 rs62011761 rs62011761 rs62011761 1 1538 10 1/0 0,255,255 +. (chr15:82726569 A/G) 15 82726569 A G Transcript NM_198181.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) GOLGA6L9 +. 15 82727059 C T - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution intron GRCh37 82727059 82727059 Chr15(GRCh37):g.82727059C>T 1003-10 1003-10 NM_198181.3:c.1003-10C>T p.? p.? 7 6 -10 3' 89.4439 8.02486 0.952497 XI.78 92.7265 7.57588 0.961206 X.92 -0.00336813 transition C T C>T 0.370 -0.521 233 PASS . . . . . . . . . . . . . . . . 0.2580645 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.2430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000237550 GOLGA6L9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs3984797 rs3887964 rs3984797 rs3984797 1 1538 10 1/0 0,255,255 +. 15 82728232 G T - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution missense exon GRCh37 82728232 82728232 Chr15(GRCh37):g.82728232G>T 1129 1129 NM_198181.3:c.1129G>T p.Val377Phe p.Val377Phe 8 -38 5' 84.0719 8.94615 0.982269 8.40807 84.0719 8.94615 0.982269 8.29632 0 Cryptic Acceptor Strongly Activated 82728242 0.000732 1.55627 0.014135 72.7099 transversion G T G>T 0.008 -1.489 V Val GTC 0.240 F Phe TTC 0.546 377 12 2 Chimp 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Tolerated 0.44 III.22 255 PASS . . . . . . . . . . . ENSG00000197978:ENST00000300515:exon8:c.G1129T:p.V377F GOLGA6L9:uc010blt.3:exon8:c.G1129T:p.V377F . . . 0.37037036 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 27.0 . . . . . . . . . . -1.1800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000197978 GOLGA6L9 GOLGA6L9 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.29 . . . . . . . . . . . . . . . ENST00000300515 . . . 0.020000 A6NEM1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.505 -1.505000 . . 0.020000 . . 1.0E-255 . . . . . . . . . -1.505 . . rs4454928 rs4454928 rs4454928 rs4454928 1 1538 10 1/0 0,255,255 +. (chr15:82754666 C/T) 15 82754666 C T Not on a known gene +. (chr15:82754722 C/T) 15 82754722 C T Not on a known gene +. (chr15:82754781 C/T) 15 82754781 C T Not on a known gene +rs879952152 (chr15:82754949 A/G) 15 82754949 A G Not on a known gene +rs879962675 (chr15:82754984 C/T) 15 82754984 C T Not on a known gene +. (chr15:82755131 G/A) 15 82755131 G A Not on a known gene +. (chr15:82755176 C/T) 15 82755176 C T Not on a known gene +. (chr15:82755281 C/A) 15 82755281 C A Not on a known gene +. (chr15:82755482 A/G) 15 82755482 A G Not on a known gene +. (chr15:82755694 C/T) 15 82755694 C T Not on a known gene +. (chr15:82755904 G/A) 15 82755904 G A Not on a known gene +rs62011816 (chr15:82766893 G/A) 15 82766893 G A Not on a known gene +rs62011829 (chr15:82769516 C/G) 15 82769516 C G Not on a known gene +. (chr15:82806577 A/G) 15 82806577 A G Transcript NR_111962.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) GOLGA6L17P +. 15 82809382 G A - GOLGA6L17P 49414 Golgin A6 family-like 17, pseudogene NR_111962.1 1 1895 0 substitution exon GRCh37 82809382 82809382 Chr15(GRCh37):g.82809382G>A 1595 1595 NR_111962.1:n.1595G>A 7 -10 5' 80.8983 8.18959 0.80755 3.66207 80.8983 8.18959 0.80755 3.97916 0 transition G A G>A 0.063 -1.328 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.3685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000186322 LOC161527 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs3877061 . rs3877061 rs3877061 1 1538 10 1/0 0,255,255 +rs1651959 15 82822408 C G - RPS17 10397 Ribosomal protein S17 NM_001021.5 -1 595 408 NP_001012.1 P08708 substitution intron GRCh37 82822408 82822408 Chr15(GRCh37):g.82822408C>G 327+306 327+306 NM_001021.5:c.327+306G>C p.? p.? 4 4 180472 306 5' 87.3609 X.15 0.993726 7.44777 87.3609 X.15 0.993726 7.44777 0 rs1651959 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.440 111 PASS . . . . . . . . . . . ENSG00000184779:ENST00000560826:exon5:c.G370C:p.A124P . . . . 1.0 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.2296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.38 0.7 182 ENSG00000184779 AK097432 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HOM . rs1651959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs1651959 rs1651959 rs1651959 rs148810247 1 1538 255 1.I 0,0,255 +rs6991 15 82823390 A G - RPS17 10397 Ribosomal protein S17 NM_001021.5 -1 595 408 NP_001012.1 P08708 substitution synonymous exon GRCh37 82823390 82823390 Chr15(GRCh37):g.82823390A>G 159 159 NM_001021.5:c.159T>C p.Tyr53= p.Tyr53Tyr 3 180472 4 3' 78.3585 6.92111 0.798713 7.79659 78.3585 6.92111 0.782798 8.05875 -0.00664194 Ribosomal protein S17e rs6991 yes no Frequency 1 uncertain_significance,pathogenic 0.000000 0 transition T C T>C 1.000 3.514 Y Tyr TAT 0.438 Y Tyr TAC 0.562 53 111 PASS . . . . . . . . . . . . RPS17L:uc002bhr.1:exon3:c.T159C:p.Y53Y RPS17:NM_001021:exon3:c.T159C:p.Y53Y . . 1.0 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ Pathogenic RCV000087020.3 Diamond-Blackfan_anemia_4 MedGen:OMIM C2675860:612527 1 . . . 15.0 . . . . . . . . . . 0.8527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.56 0.69 182 ENSG00000184779 RPS17L RPS17 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 1 . . . 0 0 0 0 1 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . rs6991 . . . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dDiamond-Blackfan_anemia_4\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000087020.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dNBK7047:C2675860:612527:ORPHA124 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dDiamond-Blackfan_anemia_4\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000087020.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dNBK7047:C2675860:612527:ORPHA124 . . . . . . . . . . . . . . . . . . . . . . 2.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs6991 rs6991 rs6991 rs142262304 1 1538 255 1.I 0,0,255 +rs919417 15 82823423 G A - RPS17 10397 Ribosomal protein S17 NM_001021.5 -1 595 408 NP_001012.1 P08708 substitution intron GRCh37 82823423 82823423 Chr15(GRCh37):g.82823423G>A 156-30 156-30 NM_001021.5:c.156-30C>T p.? p.? 3 2 180472 -30 3' 78.3585 6.92111 0.798713 7.79659 78.3585 6.92111 0.798713 7.58633 0 rs919417 yes no Frequency 1 0.000000 0 transition C T C>T 0.504 0.528 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.0703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.23 182 ENSG00000184779 AK097432 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs919417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs919417 rs919417 rs919417 rs151257277 1 1538 255 1.I 0,0,255 +rs1318545 15 82823466 C G - RPS17 10397 Ribosomal protein S17 NM_001021.5 -1 595 408 NP_001012.1 P08708 substitution intron GRCh37 82823466 82823466 Chr15(GRCh37):g.82823466C>G 156-73 156-73 NM_001021.5:c.156-73G>C p.? p.? 3 2 180472 -73 3' 78.3585 6.92111 0.798713 7.79659 78.3585 6.92111 0.798713 VII.66 0 Cryptic Acceptor Weakly Activated 82823452 2.20203 0.001065 64.8652 2.06098 0.001789 67.2749 rs1318545 yes no Frequency 1 0.000000 0 transversion G C G>C 0.079 -0.440 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . -0.5094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.28 182 ENSG00000184779 AK097432 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1318545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs1318545 rs1318545 rs1318545 rs1318545 1 1538 255 1.I 0,0,255 +. (chr15:82905964 C/T) 15 82905964 C T Not on a known gene +. 15 82934070 A G - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution intron GRCh37 82934070 82934070 Chr15(GRCh37):g.82934070A>G 1315-71 1315-71 NM_001322400.1:c.1315-71T>C p.? p.? 7 6 -71 3' 89.4439 8.02486 0.952497 XI.78 89.4439 8.02486 0.952497 XI.15 0 0.002967 0.000000 0.000000 0.000000 0.000000 0.000000 0.005348 0.000000 0.000000 0.005348 2 0 0 0 0 0 2 0 0 674 22 66 2 130 0 374 62 18 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 120 Genomes transition T C T>C 0.827 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK097432 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0030 0 0 0 0 0.0053 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2019390 rs2019390 rs78831219 rs78831219 1 1538 10 1/0 0,255,255 +. 15 82937259 G A - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution missense exon GRCh37 82937259 82937259 Chr15(GRCh37):g.82937259G>A 176 176 NM_001322400.1:c.176C>T p.Thr59Ile p.Thr59Ile 2 -29 5' 79.968 7.76791 0.455738 7.26669 79.968 7.76791 0.455738 6.85251 0 transition C T C>T 0.035 0.125 T Thr ACT 0.243 I Ile ATT 0.356 59 12 7 Chicken -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 242.23 0.00 Tolerated 0.16 III.32 255 PASS . . . . . . . . . . . ENSG00000215749:ENST00000559949:exon2:c.C176T:p.T59I AK302092:uc010unx.1:exon2:c.C140T:p.T47I . . . 0.36842105 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.5677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK302092 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 . . . . . . . . . . . . . . . ENST00000426571 . . . 0.000000 E7ES67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.159 0.159000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.159 . . . . . . 1 1538 10 1/0 0,255,255 +. 15 82937262 G A - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution missense exon GRCh37 82937262 82937262 Chr15(GRCh37):g.82937262G>A 173 173 NM_001322400.1:c.173C>T p.Ala58Val p.Ala58Val 2 -32 5' 79.968 7.76791 0.455738 7.26669 79.968 7.76791 0.455738 6.99786 0 transition C T C>T 0.020 0.125 A Ala GCC 0.403 V Val GTC 0.240 58 12 3 Cat 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 215.31 41.79 Tolerated 0.12 III.15 255 PASS . . . . . . . . . . . ENSG00000215749:ENST00000559949:exon2:c.C173T:p.A58V AK302092:uc010unx.1:exon2:c.C137T:p.A46V . . . 0.42105263 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -1.0380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK302092 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . . . ENST00000426571 . . . 0.060000 E7ES67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.159 0.159000 . . 0.060000 . . 1.0E-255 . . . . . . . . . 0.159 . . rs2277571 rs2277571 rs2277571 rs2277571 1 1538 10 1/0 0,255,255 +. 15 82937263 C A - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution missense exon GRCh37 82937263 82937263 Chr15(GRCh37):g.82937263C>A 172 172 NM_001322400.1:c.172G>T p.Ala58Ser p.Ala58Ser 2 -33 5' 79.968 7.76791 0.455738 7.26669 79.968 7.76791 0.455738 6.91068 0 transversion G T G>T 0.012 -1.247 A Ala GCC 0.403 S Ser TCC 0.220 58 12 3 Cat 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 215.31 IX.71 Tolerated 0.24 III.15 255 PASS . . . . . . . . . . . ENSG00000215749:ENST00000559949:exon2:c.G172T:p.A58S AK302092:uc010unx.1:exon2:c.G136T:p.A46S . . . 0.45 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -1.5083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK302092 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 . . . . . . . . . . . . . . . ENST00000426571 . . . 0.220000 E7ES67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.268 -1.268000 . . 0.220000 . . 1.0E-255 . . . . . . . . . -1.268 . . rs2277570 rs2277570 rs2277570 rs2277570 1 1538 10 1/0 0,255,255 +. 15 82939044 T C - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution synonymous exon GRCh37 82939044 82939044 Chr15(GRCh37):g.82939044T>C 54 54 NM_001322400.1:c.54A>G p.Gln18= p.Gln18Gln 1 -31 5' 82.2129 8.37568 0.951569 8.54294 82.2129 8.37568 0.951569 VIII.95 0 transition A G A>G 0.969 -0.198 Q Gln CAA 0.256 Q Gln CAG 0.744 18 227 PASS . . . . . . . . . . . ENSG00000215749:ENST00000559949:exon1:c.A54G:p.Q18Q AK302092:uc010unx.1:exon1:c.A18G:p.Q6Q . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.2117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK302092 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 82970362 G C - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution downstream GRCh37 82970362 82970362 Chr15(GRCh37):g.82970362G>C *117 *117 NR_033579.1:n.*117C>G p.? p.? 12 1664 3' 85.132 XII.91 0.988207 X.48 85.132 XII.91 0.988207 X.48 0 transversion C G C>G 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.7627119 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.4954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.6 0.34 182 ENSG00000259328 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs320838 rs320838 rs320838 rs320838 1 1538 10 1/0 0,255,255 +. 15 82970362 G C - GOLGA2P10 26229 Golgin A2 pseudogene 10 NR_033936.3 1 3343 0 substitution intron GRCh37 82970362 82970362 Chr15(GRCh37):g.82970362G>C 523+19 523+19 NR_033936.3:n.523+19G>C p.? p.? 2 2 19 5' 95.6376 X.36 0.995788 14.5161 95.6376 X.36 0.995788 14.4837 0 transversion G C G>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.7627119 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.4954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.6 0.34 182 ENSG00000259328 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs320838 rs320838 rs320838 rs320838 1 1538 10 1/0 0,255,255 +. 15 82972985 C T - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82972985 82972985 Chr15(GRCh37):g.82972985C>T 5221 5221 NR_033579.1:n.5221G>A 10 -2 5' 80.8983 8.18959 0.765782 4.38403 89.8591 9.60237 0.973725 6.61534 0.18494 Cryptic Donor Strongly Activated 82972984 8.18959 0.765782 80.8983 9.60237 0.973725 89.8591 transition G A G>A 0.024 -0.440 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.4707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.57 0.34 182 ENSG00000205275 CSPG4P8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62011816 rs62011816 rs62011816 rs62011816 1 1538 255 1.I 0,0,255 +. 15 82972985 C T - GOLGA2P10 26229 Golgin A2 pseudogene 10 NR_033936.3 1 3343 0 substitution intron GRCh37 82972985 82972985 Chr15(GRCh37):g.82972985C>T 1003+726 1003+726 NR_033936.3:n.1003+726C>T p.? p.? 6 6 726 5' 84.1959 X.66 0.975908 X.86 84.1959 X.66 0.975908 X.86 0 Cryptic Acceptor Strongly Activated 82972994 3.05234 0.014305 71.1029 3.17396 0.025304 73.8148 transition C T C>T 0.024 -0.440 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.4707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.57 0.34 182 ENSG00000205275 CSPG4P8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62011816 rs62011816 rs62011816 rs62011816 1 1538 255 1.I 0,0,255 +rs573667 15 82983971 C T - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82983971 82983971 Chr15(GRCh37):g.82983971C>T 2457 2457 NR_033579.1:n.2457G>A 1 -1047 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 Cryptic Donor Strongly Activated 82983975 4.28887 0.021704 73.9912 8.94615 0.944519 84.0719 rs573667 no no 0 C 0.000000 0 transition G A G>A 0.606 0.367 216 PASS . . . . . . . . . . . . . . . . 0.203125 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.3580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs573667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs573667 rs573667 rs573667 rs573667 1 1538 10 1/0 0,255,255 +. 15 82984181 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984181 82984181 Chr15(GRCh37):g.82984181G>A 2247 2247 NR_033579.1:n.2247C>T 1 -1257 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition C T C>T 0.000 -0.198 206 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.58 0.34 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs74426973 rs74426973 1 1538 10 1/0 0,255,255 +. 15 82984393 T C - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984393 82984393 Chr15(GRCh37):g.82984393T>C 2035 2035 NR_033579.1:n.2035A>G 1 -1469 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition A G A>G 0.008 -0.440 222 PASS . . . . . . . . . . . . . . . . 0.21989529 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 191.0 . . . . . . . . . . -0.3322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.54 0.42 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs76773663 rs76773663 1 1538 10 1/0 0,209,255 +. 15 82984592 C T - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984592 82984592 Chr15(GRCh37):g.82984592C>T 1836 1836 NR_033579.1:n.1836G>A 1 -1668 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition G A G>A 0.465 0.932 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.1610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . rs1727688 rs1727688 rs1727688 rs1727688 1 1538 10 1/0 0,238,255 +. 15 82984594 G T - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984594 82984594 Chr15(GRCh37):g.82984594G>T 1834 1834 NR_033579.1:n.1834C>A 1 -1670 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transversion C A C>A 0.386 0.286 198 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.1352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.56 0.34 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . rs71408849 rs71408849 rs71408849 1 1538 10 1/0 0,242,255 +. 15 82984699 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984699 82984699 Chr15(GRCh37):g.82984699G>A 1729 1729 NR_033579.1:n.1729C>T 1 -1775 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 Cryptic Acceptor Weakly Activated 82984693 3.75161 0.002739 68.2575 3.72749 0.003578 70.3607 transition C T C>T 0.150 0.690 181 PASS . . . . . . . . . . . . . . . . 0.11494253 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.1644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs76620244 rs76620244 1 1538 10 1/0 0,233,255 +rs62011801 15 82984891 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984891 82984891 Chr15(GRCh37):g.82984891G>A 1537 1537 NR_033579.1:n.1537C>T 1 -1967 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 rs62011801 no no 0 G 0.000000 0 transition C T C>T 0.559 0.044 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.5296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62011801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2563903 rs2563903 rs2563903 rs2563903 1 1538 10 1/0 0,255,255 +. 15 82984926 T C - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984926 82984926 Chr15(GRCh37):g.82984926T>C 1502 1502 NR_033579.1:n.1502A>G 1 -2002 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition A G A>G 0.102 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.55813956 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 0.0787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.53 0.39 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs469447 rs469447 rs469447 rs469447 1 1538 10 1/0 0,255,255 +. 15 82985094 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82985094 82985094 Chr15(GRCh37):g.82985094G>A 1334 1334 NR_033579.1:n.1334C>T 1 -2170 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition C T C>T 0.008 0.125 226 PASS . . . . . . . . . . . . . . . . 0.23333333 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.2860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.57 0.36 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . rs4248242 rs4248242 rs4248242 rs4248242 1 1538 10 1/0 0,255,255 +. 15 82985153 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82985153 82985153 Chr15(GRCh37):g.82985153G>A 1275 1275 NR_033579.1:n.1275C>T 1 -2229 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition C T C>T 0.000 -0.682 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.2715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs4779026 rs4779026 rs4779026 rs4779026 1 1538 10 1/0 0,255,255 +. 15 82985209 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82985209 82985209 Chr15(GRCh37):g.82985209G>A 1219 1219 NR_033579.1:n.1219C>T 1 -2285 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition C T C>T 0.992 -0.117 190 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.56 0.38 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs468815 rs468815 rs468815 rs468815 1 1538 10 1/0 0,255,255 +. (chr15:83013031 A/G) 15 83013031 A G Not on a known gene +. (chr15:83015341 C/T) 15 83015341 C T Not on a known gene +rs748684363 (chr15:83016263 G/A) 15 83016263 G A Not on a known gene +rs756728826 (chr15:83016264 C/A) 15 83016264 C A Not on a known gene +. (chr15:83018045 T/C) 15 83018045 T C Not on a known gene +. (chr15:83098842 C/T) 15 83098842 C T Not on a known gene +. (chr15:83101182 G/T) 15 83101182 G T Not on a known gene +. (chr15:83101511 T/C) 15 83101511 T C Not on a known gene +. (chr15:83101702 G/A) 15 83101702 G A Not on a known gene +. (chr15:83102285 C/T) 15 83102285 C T Not on a known gene +. (chr15:83102991 G/A) 15 83102991 G A Not on a known gene +. (chr15:83102992 T/C) 15 83102992 T C Not on a known gene +. (chr15:83103094 A/G) 15 83103094 A G Not on a known gene +. (chr15:83103584 C/T) 15 83103584 C T Not on a known gene +. (chr15:83104757 G/T) 15 83104757 G T Not on a known gene +. (chr15:83131252 C/T) 15 83131252 C T Not on a known gene +. (chr15:83131308 C/T) 15 83131308 C T Not on a known gene +. (chr15:83131367 C/T) 15 83131367 C T Not on a known gene +. (chr15:83131535 A/G) 15 83131535 A G Not on a known gene +. (chr15:83131570 C/T) 15 83131570 C T Not on a known gene +. (chr15:83131717 G/A) 15 83131717 G A Not on a known gene +. (chr15:83131762 C/T) 15 83131762 C T Not on a known gene +. (chr15:83131867 C/A) 15 83131867 C A Not on a known gene +. (chr15:83132068 A/G) 15 83132068 A G Not on a known gene +. (chr15:83132280 C/T) 15 83132280 C T Not on a known gene +. (chr15:83132490 G/A) 15 83132490 G A Not on a known gene +. (chr15:83143477 G/A) 15 83143477 G A Not on a known gene +. (chr15:83146100 C/G) 15 83146100 C G Not on a known gene +. (chr15:83190428 C/T) 15 83190428 C T Not on a known gene +. (chr15:83191153 A/G) 15 83191153 A G Not on a known gene +. (chr15:83194838 G/T) 15 83194838 G T Not on a known gene +. (chr15:83206751 C/G) 15 83206751 C G Not on a known gene +. (chr15:83207733 A/G) 15 83207733 A G Not on a known gene +. (chr15:83207766 G/A) 15 83207766 G A Not on a known gene +. (chr15:83207809 C/G) 15 83207809 C G Not on a known gene +rs151111553 15 84773393 G A - EFTUD1P1 31739 Elongation factor Tu GTP binding domain containing 1 pseudogene 1 NR_036652.1 1 1167 0 substitution intron GRCh37 84773393 84773393 Chr15(GRCh37):g.84773393G>A 527+2477 527+2477 NR_036652.1:n.527+2477G>A p.? p.? 5 5 2477 5' 82.5885 9.42864 0.928886 6.16118 82.5885 9.42864 0.928886 6.16118 0 Cryptic Acceptor Strongly Activated 84773400 0.131394 5.14886 0.136731 71.5017 rs151111553 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.001000 0.000000 0.008900 0.002900 0.004845 0.001031 0.005967 0.000000 0.000000 0.000000 0.007334 0.006873 0.002037 0.007334 150 9 5 0 0 0 110 24 2 30958 8726 838 302 1620 0 14998 3492 982 0.013333 0.000000 0.000000 0.000000 0.000000 0.000000 0.018182 0.000000 0.000000 2 0 0 0 0 0 2 0 0 146 9 5 0 0 0 106 24 2 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition G A G>A 1.000 5.209 255 PASS . 0.0046 0.0028 . 0.01 0.0008 0.0026 0.0029 . 0.0089 0.001 . . . . . 0.45 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||EFTUD1P1|Non-coding_transcript|NON_CODING|NR_036652|) . . . . . . . I.97 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . 0.0026 . . . 0.71 0.58 182 ENSG00000259404 EFTUD1P1 EFTUD1P1 . . . . . . 256 0.00393992 64976 243 0.00405095 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151111553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.89 . . . . . . . . . 0.0010 0.0048 0.0060 0 0 0.0069 0.0073 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151111553 rs151111553 1 1538 10 1/0 0,255,255 +. 15 84870926 C T - GOLGA2P7 49516 Golgin A2 pseudogene 7 NR_027001.1 -1 3356 0 substitution intron GRCh37 84870926 84870926 Chr15(GRCh37):g.84870926C>T 995+696 995+696 NR_027001.1:n.995+696G>A p.? p.? 6 6 696 5' 84.1959 X.66 0.975908 X.88 84.1959 X.66 0.975908 X.88 0 transition G A G>A 0.354 0.125 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.1785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.62 0.35 182 ENSG00000225151 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs76131597 rs76131597 1 1538 10 1/0 0,250,255 +. 15 84870940 T C - GOLGA2P7 49516 Golgin A2 pseudogene 7 NR_027001.1 -1 3356 0 substitution intron GRCh37 84870940 84870940 Chr15(GRCh37):g.84870940T>C 995+682 995+682 NR_027001.1:n.995+682A>G p.? p.? 6 6 682 5' 84.1959 X.66 0.975908 X.88 84.1959 X.66 0.975908 X.88 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.346 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.1783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.3 182 ENSG00000225151 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76661747 rs76661747 1 1538 10 1/0 0,255,255 +. 15 84906279 A T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution intron GRCh37 84906279 84906279 Chr15(GRCh37):g.84906279A>T 85-59 85-59 NM_001267536.2:c.85-59A>T p.? p.? 2 1 -59 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.56677 0 New Donor Site 84906277 3.20328 0.281612 73.0988 transversion A T A>T 0.098 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16867469 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||GOLGA6L4|mRNA|CODING|NM_001267536|) . . . . . . . -0.2681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 15 84906374 C T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution missense exon GRCh37 84906374 84906374 Chr15(GRCh37):g.84906374C>T 121 121 NM_001267536.2:c.121C>T p.Pro41Ser p.Pro41Ser 2 37 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.17977 0 transition C T C>T 0.012 0.125 P Pro CCA 0.274 S Ser TCA 0.148 41 12 6 Frog -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.61 II.98 193 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon2:c.C121T:p.P41S GOLGA6L4:NM_001267536:exon2:c.C121T:p.P41S . . 0.14285715 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.155 . @ . . . . . 1 0.170 . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P41S|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.2) . . . . . . . -0.8223 -1.066 -0.822 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.139 . . 0.356 . . . 0.549 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.921 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.614 . . . . . . . 0.160 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.390000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.107 0.107000 . . 0.390000 . . 1.0E-193 0.002 0.151 . 0.062 0.529 . 0.210 . 0.267 0.107 0.542 . rs1267670 rs1267670 rs1267670 rs1267670 1 1538 10 1/0 0,245,255 +. 15 84906425 G T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution missense exon GRCh37 84906425 84906425 Chr15(GRCh37):g.84906425G>T 172 172 NM_001267536.2:c.172G>T p.Ala58Ser p.Ala58Ser 2 -33 5' 79.968 7.76791 0.455738 7.76816 79.968 7.76791 0.455738 7.41215 0 transversion G T G>T 0.035 0.125 A Ala GCC 0.403 S Ser TCC 0.220 58 12 5 Fugu 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Tolerated 0.37 II.98 208 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon2:c.G172T:p.A58S GOLGA6L4:NM_001267536:exon2:c.G172T:p.A58S . . 0.18181819 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.132 . @ . . . . . 1 0.268 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A58S|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.2) . . . . . . . -0.8283 -1.083 -0.828 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.081 . . exonic exonic exonic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.095 . . 0.339 . . . 0.419 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.471 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.398 . . . . . . . 0.039 . HET 0.03 . . . . . . . . . . . . . . . . . . . 0.080000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.107 0.107000 . . 0.080000 . . 9.999999999999999E-209 0.154 0.235 . 0.095 0.458 . 0.058 . 0.025 0.107 -0.628 . . . . . 1 1538 10 1/0 0,255,255 +. 15 84906426 C T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution missense exon GRCh37 84906426 84906426 Chr15(GRCh37):g.84906426C>T 173 173 NM_001267536.2:c.173C>T p.Ala58Val p.Ala58Val 2 -32 5' 79.968 7.76791 0.455738 7.76816 79.968 7.76791 0.455738 7.49933 0 transition C T C>T 0.039 0.125 A Ala GCC 0.403 V Val GTC 0.240 58 12 5 Fugu 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.2 II.98 214 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon2:c.C173T:p.A58V GOLGA6L4:NM_001267536:exon2:c.C173T:p.A58V . . 0.2 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.473 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A58V|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.2) . . . . . . . -0.7325 -0.985 -0.732 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.117 . . exonic exonic exonic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.152 . . 0.282 . . . 0.708 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.477 . . . . . . . 0.037 . HET 0.02 . . . . . . . . . . . . . . . . . . . 0.020000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.107 0.107000 . . 0.020000 . . 1.0E-214 0.136 0.232 . 0.100 0.453 . 0.382 . 0.267 0.107 0.542 . . . . . 1 1538 10 1/0 0,255,255 +. 15 84906429 C T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution missense exon GRCh37 84906429 84906429 Chr15(GRCh37):g.84906429C>T 176 176 NM_001267536.2:c.176C>T p.Thr59Ile p.Thr59Ile 2 -29 5' 79.968 7.76791 0.455738 7.76816 79.968 7.76791 0.455738 7.35398 0 transition C T C>T 0.043 0.125 T Thr ACT 0.243 I Ile ATT 0.356 59 12 3 Macaque -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.17 II.98 219 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon2:c.C176T:p.T59I GOLGA6L4:NM_001267536:exon2:c.C176T:p.T59I . . 0.21428572 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.463 . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T59I|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.2) . . . . . . . -0.7260 -0.979 -0.726 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.178 . . exonic exonic exonic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.191 . . 0.265 . . . 0.606 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.800 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.393 . . . . . . . 0.174 . HET 0.02 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.107 0.107000 . . 0.000000 . . 1.0E-219 0.006 0.172 . 0.114 0.463 . 0.382 . 0.267 0.107 0.542 . . . . . 1 1538 10 1/0 0,255,255 +. 15 84907061 G A - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution intron GRCh37 84907061 84907061 Chr15(GRCh37):g.84907061G>A 205-19 205-19 NM_001267536.2:c.205-19G>A p.? p.? 3 2 -19 3' 84.5337 9.46271 0.847172 8.91466 84.5337 9.16302 0.887905 8.72936 0.00547014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 7691 Exomes transition G A G>A 0.016 0.125 182 PASS . . . . . . . . . . . . . . . . 0.116161615 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 198.0 . . INTRON(MODIFIER||||GOLGA6L4|mRNA|CODING|NM_001267536|) . . . . . . . -0.4348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,255 +. 15 84907103 G A - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution synonymous exon GRCh37 84907103 84907103 Chr15(GRCh37):g.84907103G>A 228 228 NM_001267536.2:c.228G>A p.Glu76= p.Glu76Glu 3 24 3' 84.5337 9.46271 0.847172 8.91466 84.5337 9.46271 0.847172 8.83401 0 transition G A G>A 0.004 -1.651 E Glu GAG 0.583 E Glu GAA 0.417 76 204 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon3:c.G228A:p.E76E GOLGA6L4:NM_001267536:exon3:c.G228A:p.E76E . . 0.16860466 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 172.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E76|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.3) . . . . . . . -0.7628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.26 182 ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs78810229 rs111971670 1 1538 10 1/0 0,209,255 +. (chr15:84958830 T/C) 15 84958830 T C No Alamut gene - other known genes: CSPG4P5 CSPG4P5 +. (chr15:84959136 G/A) 15 84959136 G A No Alamut gene - other known genes: CSPG4P5 CSPG4P5 +. (chr15:84959181 C/T) 15 84959181 C T No Alamut gene - other known genes: CSPG4P5 CSPG4P5 +. (chr15:84962608 G/A) 15 84962608 G A No Alamut gene - other known genes: CSPG4P5 CSPG4P5 +. 15 85057500 C T - GOLGA6L5P 30472 Golgin A6 family-like 5, pseudogene NR_003246.2 -1 7309 0 substitution exon GRCh37 85057500 85057500 Chr15(GRCh37):g.85057500C>T 290 290 NR_003246.2:n.290G>A 3 24 3' 84.5337 9.46271 0.847172 8.91466 84.5337 9.46271 0.847172 8.83401 0 transition G A G>A 0.000 0.448 195 PASS . . . . . . . . . . . . . . . . 0.14563107 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 206.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R97K|GOLGA6L5P|Non-coding_transcript|NON_CODING|NR_003246|NR_003246.ex.3) . . . . . . . -0.3044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.62 0.36 182 . GOLGA6L5 GOLGA6L5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs78810229 rs111971670 1 1538 10 1/0 0,199,255 +. 15 85058229 G A - GOLGA6L5P 30472 Golgin A6 family-like 5, pseudogene NR_003246.2 -1 7309 0 substitution exon GRCh37 85058229 85058229 Chr15(GRCh37):g.85058229G>A 183 183 NR_003246.2:n.183C>T 2 37 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.17977 0 transition C T C>T 0.004 0.528 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F61|GOLGA6L5P|Non-coding_transcript|NON_CODING|NR_003246|NR_003246.ex.2) . . . . . . . -0.2271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.31 182 . GOLGA6L5 GOLGA6L5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs1267670 rs1267670 rs1267670 rs1267670 1 1538 10 1/0 0,255,255 +. 15 85058324 T A - GOLGA6L5P 30472 Golgin A6 family-like 5, pseudogene NR_003246.2 -1 7309 0 substitution intron GRCh37 85058324 85058324 Chr15(GRCh37):g.85058324T>A 147-59 147-59 NR_003246.2:n.147-59A>T p.? p.? 2 1 -59 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.56677 0 New Donor Site 85058326 3.20328 0.281612 73.0988 transversion A T A>T 0.024 0.125 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||GOLGA6L5P|Non-coding_transcript|NON_CODING|NR_003246|) . . . . . . . -0.3847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . GOLGA6L5 GOLGA6L5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17215940 15 85448921 A G - SLC28A1 11001 Solute carrier family 28 member 1 NM_001287762.1 1 2653 1950 NP_001274691.1 O00337 substitution intron GRCh37 85448921 85448921 Chr15(GRCh37):g.85448921A>G 717+38 717+38 NM_001287762.1:c.717+38A>G p.? p.? 7 7 606207 38 5' 80.9586 8.53199 0.986771 7.56503 80.9586 8.53199 0.986771 8.20059 0 rs17215940 yes no Frequency/1000G 2 A 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.008900 0.002900 0.004396 0.000680 0.004023 0.018191 0.000000 0.001217 0.005497 0.003953 0.006589 0.018191 1201 16 137 183 0 37 686 100 42 273186 23514 34050 10060 18700 30398 124790 25300 6374 0.000059 0.000000 0.000000 0.000795 0.000000 0.000000 0.000032 0.000079 0.000314 8 0 0 4 0 0 2 1 1 1185 16 137 175 0 37 682 98 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4405 12962 41 1 42 0.00476855 0.000226963 0.00322978 0.00476855 0.000226963 0.00322978 45 transition A G A>G 0.000 0.448 255 PASS . 0.0027 0.0028 . 0.01 . 0.0022 0.0029 . 0.0089 . . . . . . 0.45 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . 0.0002 0.0032 0.0048 0.0002 0.0032 0.0048 . -0.1276 . . . . . . . . 4.215e-03 . . . 0.0005 0.0044 0.0044 0 0.0055 0.0069 0.0059 0.0016 0.0006 0.0044 0.0043 0 0.0052 0.0063 0.0094 0.0016 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.11 0.27 182 ENSG00000156222 SLC28A1 SLC28A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17215940 . . . . . . . . . . . . . . . . . . . . . . . 0.003230 . . . . . 0.0007 0.0043 0.0039 0.0182 0 0.0041 0.0051 0.0072 0.0012 0.0007 0.0050 0.0072 0.0166 0 0.0032 0.0082 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs17215940 rs17215940 rs17215940 rs17215940 1 1538 10 1/0 0,255,255 +. (chr15:85737720 C/T) 15 85737720 C T Not on a known gene +. (chr15:85737776 C/T) 15 85737776 C T Not on a known gene +. (chr15:85737835 C/T) 15 85737835 C T Not on a known gene +. (chr15:85738038 C/T) 15 85738038 C T Not on a known gene +rs2259324 (chr15:85738039 A/G) 15 85738039 A G Not on a known gene +. (chr15:85738230 C/T) 15 85738230 C T Not on a known gene +. (chr15:85738335 C/A) 15 85738335 C A Not on a known gene +. (chr15:85738337 G/A) 15 85738337 G A Not on a known gene +. (chr15:85738344 C/G) 15 85738344 C G Not on a known gene +. (chr15:85738536 A/G) 15 85738536 A G Not on a known gene +. (chr15:85738871 C/T) 15 85738871 C T Not on a known gene +. (chr15:85738958 G/A) 15 85738958 G A Not on a known gene +rs225232 (chr15:85752579 A/C) 15 85752579 A C Not on a known gene +. 15 85785392 A T - GOLGA6L3 37441 Golgin A6 family-like 3 NM_001310153.1 1 1672 1593 NP_001297082.1 substitution intron GRCh37 85785392 85785392 Chr15(GRCh37):g.85785392A>T 85-59 85-59 NM_001310153.1:c.85-59A>T p.? p.? 2 1 -59 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.56677 0 New Donor Site 85785390 3.20328 0.281612 73.0988 0.000461 0.000978 0.004054 0.000000 0.001346 0.000000 0.000000 0.000000 0.000000 0.004054 13 8 3 0 2 0 0 0 0 28202 8176 740 222 1486 0 13350 3360 868 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 8 3 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion A T A>T 0.000 -14.080 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . INTRON(MODIFIER||||GOLGA6L3|mRNA|CODING|NM_001310153|) . . . . . . . -0.2392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000188388 GOLGA6L4 GOLGA6L3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0005 0.0041 0 0.0013 0 0 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 15 85786216 G A - GOLGA6L3 37441 Golgin A6 family-like 3 NM_001310153.1 1 1672 1593 NP_001297082.1 substitution synonymous exon GRCh37 85786216 85786216 Chr15(GRCh37):g.85786216G>A 228 228 NM_001310153.1:c.228G>A p.Glu76= p.Glu76Glu 3 24 3' 84.5337 9.46271 0.847172 8.68576 84.5337 9.46271 0.847172 8.60511 0 0.000311 0.005352 0.000251 0.000185 0.000000 0.000000 0.000318 0.000000 0.000000 0.005352 24 7 2 1 0 0 14 0 0 77248 1308 7962 5392 670 8598 44026 6782 2510 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 2 1 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -14.080 E Glu GAG 0.583 E Glu GAA 0.417 76 205 PASS . . . . . . . . . . . . GOLGA6L4:uc010upj.1:exon3:c.G192A:p.E64E GOLGA6L3:NM_001310153:exon3:c.G228A:p.E76E . . 0.17391305 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E76|GOLGA6L3|mRNA|CODING|NM_001310153|NM_001310153.ex.3) . . . . . . . -0.3404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.59 0.42 182 ENSG00000188388 GOLGA6L4 GOLGA6L3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0128 0.0025 0.0104 0.0081 0 0 0.0022 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs78810229 rs78810229 1 1538 10 1/0 0,255,255 +. 15 86768264 C CTT - AGBL1 26504 ATP/GTP binding protein-like 1 NM_152336.3 1 3716 3339 NP_689549.3 duplication intron GRCh37 86768279 86768280 Chr15(GRCh37):g.86768278_86768279dup 526+96 526+97 NM_152336.3:c.526+96_526+97dup p.? p.? 6 6 615496 97 5' 73.1712 5.34377 0.964609 1.65074 73.1712 5.34377 0.964609 1.65074 0 0.001547 0.000402 0.008511 0.004065 0.000669 0.000000 0.001372 0.007563 0.003058 0.008511 37 3 4 1 1 0 17 9 2 23916 7468 470 246 1494 0 12394 1190 654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.19178082 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 73 . . INTRON(MODIFIER||||AGBL1|mRNA|CODING|NM_152336|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000166748 AGBL1 AGBL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0015 0.0085 0.0041 0.0007 0.0076 0.0014 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,72 +rs149477284 15 86790997 G A - AGBL1 26504 ATP/GTP binding protein-like 1 NM_152336.3 1 3716 3339 NP_689549.3 substitution missense exon GRCh37 86790997 86790997 Chr15(GRCh37):g.86790997G>A 622 622 NM_152336.3:c.622G>A p.Val208Met p.Val208Met 7 615496 96 3' 89.3131 11.1799 0.980453 16.8248 89.3131 11.1799 0.980453 16.8248 0 Armadillo-type fold rs149477284 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.000000 0.000000 0.011900 0.002900 0.006208 0.002248 0.003400 0.004440 0.000053 0.001235 0.010799 0.002406 0.005731 0.010799 1718 54 117 45 1 38 1364 62 37 276722 24018 34408 10136 18852 30768 126312 25772 6456 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 6 0 0 0 0 0 6 0 0 1706 54 117 45 1 38 1352 62 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8421 4312 12733 103 12 115 0.0120835 0.00277521 0.00895081 0.0120835 0.00277521 0.00895081 38 transition G A G>A 0.921 0.770 V Val GTG 0.468 M Met ATG 1.000 208 12 6 Zebrafish 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.07 III.33 255 PASS . 0.0046 0.0028 . 0.01 . 0.0028 0.0029 . 0.012 . . AGBL1:uc002blz.1:exon6:c.G484A:p.V162M AGBL1:NM_152336:exon6:c.G484A:p.V162M . . 0.5585586 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.113 . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V162M|AGBL1|mRNA|CODING|NM_152336|NM_152336.ex.6) 0.0028 0.009 0.012 0.0028 0.009 0.012 . -0.9711 -0.999 -0.971 c . . . . . 6.137e-03 . . . 0.0027 0.0058 0.0031 0 0.0011 0.0102 0.0059 0.0013 0.0027 0.0058 0.0029 0 0.0018 0.0096 0.0029 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.338 . . exonic exonic exonic . . 0.244 0.0028 . . . 0.29 0.5 182 ENSG00000166748 AGBL1 AGBL1 . . . 1.000 0.747 . 388 0.00597144 64976 374 0.00623479 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.102 . . 0.256 . . . 0.159 0.205 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.127 . . 0 0 0 0 0 0 . 0.392 . . 0.208 . . . . . . 0 0.033 . . . . . 0.136 . 0.077 . HET 0.84 rs149477284 0.022 0.014 . . . . . 0.004578754578754579 0.0 0.0027624309392265192 0.0 0.011873350923482849 5.0261 0.002466 . V.16 I.86 . 0.970000 Q96MI9 . . . 0.008951 . 0.200 . . . 0.0022 0.0061 0.0034 0.0044 5.803e-05 0.0021 0.0107 0.0049 0.0012 0.0024 0.0074 0.0024 0.0066 0 0.0046 0.0119 0.0102 . . 0.133 . 0.575 0.575000 . . 0.970000 . . 1.0E-255 0.108 0.227 . 0.100 0.004 . 0.241 . 0.211 0.575 0.069 0.022 . . rs149477284 rs149477284 1 1538 10 1/0 0,255,255 +. 15 89015823 GACA G - MRPS11 14050 Mitochondrial ribosomal protein S11 NM_022839.4 1 3638 585 NP_073750.2 P82912 deletion intron GRCh37 89015825 89015827 Chr15(GRCh37):g.89015825_89015827del 183-33 183-31 NM_022839.4:c.183-33_183-31del p.? p.? 3 2 611977 -31 3' 87.8432 VII.73 0.224145 4.88801 87.8432 VII.73 0.224145 5.64162 0 rs147841351 yes no Frequency/1000G 2 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.004625 0.001067 0.002291 0.001219 0.000000 0.002881 0.005672 0.012306 0.006063 0.012306 1239 25 77 12 0 85 687 315 38 267864 23424 33606 9844 18502 29506 121116 25598 6268 0.000060 0.000000 0.000000 0.000000 0.000000 0.000068 0.000050 0.000313 0.000000 8 0 0 0 0 1 3 4 0 1223 25 77 12 0 83 681 307 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8172 4247 12419 82 13 95 0.00993458 0.00305164 0.0075915 0.00993458 0.00305164 0.0075915 19 CAA 255 Pass . . . . . . 0.0012 0.0029 . 0.004 . . . . . . 0.4054054 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . 0.0031 0.0074 0.0097 0.0031 0.0076 0.0099 . . . . . . . . . . 4.287e-03 . . . 0.0013 0.0046 0.0020 0 0.0152 0.0062 0.0050 0.0033 0.0012 0.0049 0.0020 0 0.0139 0.0059 0.0087 0.0033 . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000173867 MRPS11 MRPS11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147841351 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833085 0.007430 . . . . . 0.0010 0.0046 0.0023 0.0012 0 0.0124 0.0057 0.0061 0.0029 0.0013 0.0047 0.0036 0.0033 0 0.0114 0.0056 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0097 . . rs147841351 rs147841351 1 1538 10 1.I 0,12,39 +rs11633157 15 89398939 C T - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution synonymous exon GRCh37 89398939 89398939 Chr15(GRCh37):g.89398939C>T 3123 3123 NM_013227.3:c.3123C>T p.Thr1041= p.Thr1041Thr 12 155760 857 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs11633157 yes no Frequency/1000G 2 T 0.000000 0 0.070288 0.206500 0.046000 0.001000 0.012900 0.028800 transition C T C>T 0.000 -1.086 T Thr ACC 0.361 T Thr ACT 0.243 1041 255 PASS . . . . . 0.21 0.07 0.029 0.001 0.013 0.046 . . . . . 0.5168539 . . @ 46 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . -0.0957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0703 . . . 0.23 0.35 182 ENSG00000157766 ACAN ACAN . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11633157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11633157 rs11633157 rs11633157 rs11633157 1 1538 10 1/0 0,255,255 +rs77709198 15 89399053 C T - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution synonymous exon GRCh37 89399053 89399053 Chr15(GRCh37):g.89399053C>T 3237 3237 NM_013227.3:c.3237C>T p.Thr1079= p.Thr1079Thr 12 155760 971 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs77709198 yes no Frequency/1000G 2 T 0.000000 0 0.092652 0.155100 0.083800 0.053600 0.080500 0.060500 0.000658 0.001188 0.000169 0.000000 0.000130 0.000559 0.000825 0.010256 0.000000 0.010256 32 4 2 0 1 3 14 8 0 48666 3366 11862 1230 7668 5366 16978 780 1416 0.156250 0.250000 0.000000 0.000000 0.000000 0.000000 0.142857 0.250000 0.000000 5 1 0 0 0 0 2 2 0 22 2 2 0 1 3 10 4 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes COSM4128541 Thyroid 0.001339 747 transition C T C>T 0.000 -1.247 T Thr ACC 0.361 T Thr ACT 0.243 1079 255 PASS . . . . . 0.16 0.093 0.06 0.054 0.081 0.084 . . . . . 0.4651163 . . @ 20 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.1819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0927 . . . 0.19 0.34 182 ENSG00000157766 ACAN ACAN . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77709198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0007 0.0002 0 0.0001 0.0103 0.0008 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77709198 rs77709198 1 1538 10 1/0 0,255,255 +rs113457214 15 89399510 G A - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution missense exon GRCh37 89399510 89399510 Chr15(GRCh37):g.89399510G>A 3694 3694 NM_013227.3:c.3694G>A p.Ala1232Thr p.Ala1232Thr 12 155760 1428 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs113457214 yes no Frequency 1 0.000000 0 0.000158 0.002628 0.000137 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002628 5 4 1 0 0 0 0 0 0 31648 1522 7300 818 4608 3058 12766 632 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 150 Exomes transition G A G>A 0.000 -2.135 A Ala GCT 0.263 T Thr ACT 0.243 1232 8 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 195 PASS . . . . . . . . . . . . . . . . 0.14678898 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.078 . . 109.0 . . . . . . . . . . -2.5318 -2.537 -2.532 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.940 . . exonic exonic exonic . . 0.019 @ . . . 0.42 0.33 182 ENSG00000157766 ACAN ACAN . . . 0.867 0.253 . . . . . . . Uncertain_significance . 0 . 0.135 . . . . D 0.791 0.112 . . 37 . 0.716 . . 0.667 . . . 0.024 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.128 . . . . . 0.028 . 0.020 . LowAF 0.1 rs113457214 . . . . . . . . . . . . I.07 . . 3.IX -6.11 . 0.370000 . . . . . . 0.012 . . . 0.0026 0.0002 0.0001 0 0 0 0 0 0 . . . . . . . . . . 0.283 . -1.070 -1.070000 . . 0.370000 . . 9.999999999999999E-196 0.000 0.063 . 0.090 0.001 . 0.038 . 0.000 -1.070 -0.488 . . . rs199903498 rs199903498 1 1538 10 1/0 0,226,255 +rs202231802 15 89399852 G A - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution missense exon GRCh37 89399852 89399852 Chr15(GRCh37):g.89399852G>A 4036 4036 NM_013227.3:c.4036G>A p.Ala1346Thr p.Ala1346Thr 12 155760 1770 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs202231802 yes no Frequency 1 0.000000 0 COSM6431293 Thyroid 0.001339 747 transition G A G>A 0.000 -0.844 A Ala GCT 0.263 T Thr ACT 0.243 1346 8 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.21 IV.32 unknown 0.0 0.0 172 PASS . . . . . . . . . . . . . . . . 0.11610487 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.065 . . 267.0 . . . . . . . . . . -1.5462 -1.627 -1.546 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.944 . . exonic exonic exonic . . 0.066 @ . . . 0.21 0.27 182 ENSG00000157766 ACAN ACAN . . . 0.012 0.123 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.648 0.051 . . 37 . 0.895 . . 0.764 . . . 0.691 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.063 . . 0 0 0 0 0 0 . 0.135 . . 0.188 . . . . . . 0 0.100 . . . . . 0.165 . 0.012 . LowAF 0.32 rs202231802 . . . . . . . . . . . . V.54 0.167598 . III.45 -2.19 . 0.250000 . . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -0.670 -0.670000 . . 0.250000 . . 1.0E-172 0.000 0.063 . 0.179 0.315 . 0.008 . 0.021 -0.670 -1.558 . . . rs202231802 rs202231802 1 1538 10 1/0 0,185,255 +rs200156631 15 89399909 G A - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution missense exon GRCh37 89399909 89399909 Chr15(GRCh37):g.89399909G>A 4093 4093 NM_013227.3:c.4093G>A p.Ala1365Thr p.Ala1365Thr 12 155760 1827 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs200156631 yes no Frequency 1 0.000000 0 0.000007 0.000150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000150 1 1 0 0 0 0 0 0 0 136204 6646 25194 4990 13988 16928 57690 7520 3248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 46 Exomes transition G A G>A 0.000 -0.521 A Ala GCT 0.263 T Thr ACT 0.243 1365 8 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.21 IV.32 unknown 0.0 0.0 213 PASS . . . . . . . . . . . . . . . . 0.19379845 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.078 . . 258.0 . . . . . . . . . . -1.6143 -1.658 -1.614 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.944 . . exonic exonic exonic . . 0.100 @ . . . 0.3 0.3 182 ENSG00000157766 ACAN ACAN . . . 0.006 0.111 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.700 0.067 . . 37 . 0.879 . . 0.732 . . . 0.603 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.064 . . 0 0 0 0 0 0 . 0.156 . . 0.188 . . . . . . 0 0.143 . . . . . 0.140 . 0.022 . HET 0.41 rs200156631 . . . . . . . . . . . . 5.0974 0.021053 . III.54 -0.897 . 0.440000 . . . . . . 0.012 . . . 0.0002 7.342e-06 0 0 0 0 0 0 0 . . . . . . . . . . 0.283 . -0.204 -0.204000 . . 0.440000 . . 1.0E-213 0.000 0.063 . 0.142 0.003 . 0.020 . 0.001 -0.204 -1.771 . . . rs200156631 rs200156631 1 1538 10 1/0 0,194,255 +rs78573781 15 90168736 C T - TICRR 28704 TOPBP1-interacting checkpoint and replication regulator NM_152259.3 1 6670 5733 NP_689472.3 Q7Z2Z1 substitution missense exon GRCh37 90168736 90168736 Chr15(GRCh37):g.90168736C>T 5195 5195 NM_152259.3:c.5195C>T p.Thr1732Met p.Thr1732Met 20 613298 -282 5' 86.7234 X.83 0.99023 4.84316 86.7234 X.83 0.99023 4.84316 0 rs78573781 yes no Frequency/1000G 2 C 0.000000 0 0.007388 0.025700 0.000000 0.000000 0.002000 0.001400 0.001856 0.016867 0.001337 0.000000 0.000000 0.000065 0.000403 0.000039 0.001392 0.016867 514 405 46 0 0 2 51 1 9 276966 24012 34416 10142 18870 30782 126590 25690 6464 0.000014 0.000167 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 510 401 46 0 0 2 51 1 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4306 12896 8 94 102 0.000930449 0.0213636 0.00784736 0.000930449 0.0213636 0.00784736 58 transition C T C>T 0.000 0.125 T Thr ACG 0.116 M Met ATG 1.000 1732 12 6 Dog -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Tolerated 0.05 III.91 good 4.704E-1 0.4484 255 PASS 0.04 0.01 0.0028 . 0.004 0.026 0.0074 0.0014 . 0.002 . . . . . . 0.41221374 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.086 . . 131.0 . . . 0.021 0.0078 0.0009 0.021 0.0078 0.0009 . -1.3798 -1.388 -1.380 c . . . . . 1.942e-03 . . . 0.0198 0.0026 0.0010 0 0 0.0005 0.0014 6.061e-05 0.0203 0.0020 0.0010 0 0 0.0003 0 6.096e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.113 . . exonic exonic exonic . . 0.142 0.0074 . . . 0.44 0.21 182 ENSG00000140534 TICRR TICRR . . . 0.538 0.212 . 51 0.000784905 64976 14 0.000233388 59986 Likely_benign . 0 . 0.059 . . . . . . . . . 37 . 0.018 . . 0.394 . . . 0.543 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.305 . . 0 0 0 0 0 0 . 0.200 . . 0.145 . . . . . . 1 0.256 . . . . . 0.177 . 0.430 . HET 0.05 rs78573781 0.033 0.022 . . . . . 0.011904761904761904 0.044715447154471545 0.0027624309392265192 0.0 0.00395778364116095 V.14 0.020332 ENST00000268138 5.III 0.171 . 0.190000 Q7Z2Z1 . . . 0.007847 . 0.205 . . . 0.0166 0.0014 0.0013 0 0 4.505e-05 0.0004 0.0011 6.497e-05 0.0173 0.0052 0.0012 0 0 0 0.0003 0.0031 . . 0.522 . -0.142 -0.142000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.016 0.072 . 0.158 . 0.003 -0.142 0.008 0.04 . . rs78573781 rs78573781 1 1538 10 1/0 0,242,255 +. 15 90294296 G GCGGGGCTCGGCA - MESP1 29658 Mesoderm posterior 1 homolog (mouse) NM_018670.3 -1 1162 807 NP_061140.1 Q9BRJ9 insertion in-frame exon GRCh37 90294296 90294297 Chr15(GRCh37):g.90294296_90294297insCGGGGCTCGGCA 166 167 NM_018670.3:c.166_167insTGCCGAGCCCCG p.Pro55_Ala56insValProSerPro p.Pro55_Ala56insValProSerPro 1 608689 -557 5' 81.2102 6.09615 0.965227 XI.66 81.2102 6.09615 0.965227 XI.66 0 Cryptic Acceptor Strongly Activated 90294287 0.001751 69.3562 1.01345 0.003194 69.3562 rs3841586 yes no Frequency 1 0.000000 0 0.000233 0.000455 0.000000 0.000000 0.000000 0.001433 0.000184 0.000000 0.001309 0.001433 7 2 0 0 0 1 3 0 1 30042 4392 1802 316 2910 698 16314 2846 764 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 0 1 3 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3275 1077 4352 677 385 1062 0.171306 0.263338 0.196158 0.171306 0.263338 0.196158 2 TGCCGAGCCCCG 255 Pass . . . . . . . . . . . ENSG00000166823:ENST00000300057:exon1:c.166_167insTGCCGAGCCCCG:p.A56delinsVPSPA MESP1:uc002bol.3:exon1:c.166_167insTGCCGAGCCCCG:p.A56delinsVPSPA MESP1:NM_018670:exon1:c.166_167insTGCCGAGCCCCG:p.A56delinsVPSPA . . 0.26190478 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 42 . . CODON_INSERTION(MODERATE||-/TGCCGAGCCCCG|-56CRAP|MESP1|mRNA|CODING|NM_018670|NM_018670.ex.1) 0.27 0.2 0.17 0.26 0.2 0.17 . . . . . . . . . . 2.050e-04 . . . 0 0.0024 0 0 0 0.0010 0 0.0194 0 0.0014 0 0 0 0 0 0.0196 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000166823 MESP1 MESP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3841586 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv2434n71 0.195773 . . . . . 0 0.0002 0 0 0 0 0.0001 0 0.0014 0.0005 0.0003 0 0 0 0 0.0002 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.27 . . . . 1 1538 10 1.I 0,9,58 +rs143245843 15 90342752 C G - ANPEP 500 Alanyl (membrane) aminopeptidase NM_001150.2 -1 3650 2904 NP_001141.2 P15144 substitution missense exon GRCh37 90342752 90342752 Chr15(GRCh37):g.90342752C>G 1858 1858 NM_001150.2:c.1858G>C p.Val620Leu p.Val620Leu 13 151530 39 3' 78.5006 9.31307 0.891433 9.713 78.5006 9.31307 0.891433 9.86941 0 rs143245843 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.001757 0.000416 0.000552 0.000493 0.000000 0.000260 0.003394 0.000465 0.000464 0.003394 487 10 19 5 0 8 430 12 3 277200 24030 34418 10152 18870 30782 126694 25788 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 487 10 19 5 0 8 430 12 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4398 12968 28 2 30 0.00325657 0.000454545 0.00230805 0.00325657 0.000454545 0.00230805 147 transversion G C G>C 0.984 -0.117 V Val GTC 0.240 L Leu CTC 0.197 620 18 7 C. elegans 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.34 II.92 good 4.777E-1 0.009758 255 PASS . 0.0023 . . 0.01 . 0.0008 . . 0.004 . ENSG00000166825:ENST00000300060:exon13:c.G1858C:p.V620L ANPEP:uc002bop.4:exon13:c.G1858C:p.V620L ANPEP:NM_001150:exon13:c.G1858C:p.V620L . . 0.55737704 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.164 . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ctc|V620L|ANPEP|mRNA|CODING|NM_001150|NM_001150.ex.13) 0.0005 0.0023 0.0033 0.0005 0.0023 0.0033 . -0.7959 -0.715 -0.796 c . . . . . 1.776e-03 . . . 0.0004 0.0017 0.0005 0 0.0003 0.0033 0 0.0003 0.0003 0.0016 0.0004 0 0.0006 0.0028 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.494 . . exonic exonic exonic . . 0.090 0.0008 . . . 0.38 0.46 182 ENSG00000166825 ANPEP ANPEP . . . 1.000 0.747 . 152 0.00233933 64976 148 0.00246724 59986 Uncertain_significance . 0 . 0.136 . . . . T 0.160 0.006 . . 37 . 0.192 . . 0.307 . . . 0.236 0.309 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.119 . . 0.205 . . . . . . 0 0.051 . . . . . 0.194 . 0.211 . HET 0.83 rs143245843 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 6.1474 5.35E-4 ENST00000300060 V.15 -1.21 . 0.560000 P15144 . . Name\x3ddgv2434n71 0.002308 . 0.305 . . . 0.0004 0.0018 0.0006 0.0005 0 0.0005 0.0035 0.0004 0.0003 0.0005 0.0016 0 0 0 0 0.0029 0.0010 . . 0.730 . -0.088 -0.088000 . . 0.560000 . . 1.0E-255 0.805 0.295 . 0.250 0.719 . 0.118 . 0.185 -0.088 -1.152 0.01 . . rs143245843 rs143245843 1 1538 10 1/0 0,255,255 +rs61761864 15 90764702 C T - SEMA4B 10730 Semaphorin 4B NM_001324031.1 1 3722 2673 NP_001310960.1 substitution synonymous exon GRCh37 90764702 90764702 Chr15(GRCh37):g.90764702C>T 858 858 NM_001324031.1:c.858C>T p.Asn286= p.Asn286Asn 7 617029 -11 5' 78.1606 5.72798 0.198938 9.36638 78.1606 5.72798 0.198938 8.99794 0 Cryptic Acceptor Strongly Activated 90764713 3.74862 0.000258 62.9649 4.46336 0.000814 67.0669 rs61761864 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.000000 0.013300 0.000000 0.007000 0.008600 0.008324 0.001735 0.002902 0.011741 0.000000 0.017707 0.011236 0.001534 0.006700 0.017707 2046 37 88 111 0 492 1241 37 40 245800 21328 30328 9454 16364 27786 110448 24122 5970 0.000163 0.000000 0.000000 0.000000 0.000000 0.000864 0.000109 0.000000 0.000670 20 0 0 0 0 12 6 0 2 2006 37 88 111 0 468 1229 37 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8233 3984 12217 87 6 93 0.0104567 0.00150376 0.00755483 0.0104567 0.00150376 0.00755483 27 transition C T C>T 1.000 1.255 N Asn AAC 0.536 N Asn AAT 0.464 286 255 PASS . 0.0037 0.0028 . 0.01 . 0.0052 0.0086 . 0.007 0.013 . . . . . 0.49056605 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 106.0 . . . 0.0015 0.0076 0.011 0.0015 0.0076 0.011 . II.95 . . . . . . . . 7.587e-03 . . . 0.0034 0.0161 0.0087 0.0005 0.0017 0.0178 0.0061 0.0255 0.0030 0.0163 0.0090 0 0.0031 0.0187 0.0035 0.0254 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0052 . . . 0.46 0.4 182 ENSG00000185033 SEMA4B SEMA4B . . . . . . 474 0.007295 64976 448 0.00746841 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61761864 . . . . . . . . . . . . . . . . . . . . . . . 0.007555 . . . . III.54 0.0020 0.0086 0.0029 0.0118 0 0.0015 0.0112 0.0064 0.0177 0.0014 0.0066 0.0024 0.0099 0 0.0017 0.0115 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs61761864 rs61761864 rs61761864 rs61761864 1 1538 10 1/0 0,254,255 +rs138639808 15 90766777 G A - SEMA4B 10730 Semaphorin 4B NM_001324031.1 1 3722 2673 NP_001310960.1 substitution intron GRCh37 90766777 90766777 Chr15(GRCh37):g.90766777G>A 1021-14 1021-14 NM_001324031.1:c.1021-14G>A p.? p.? 9 8 617029 -14 3' 86.9898 11.1638 0.985719 6.47479 86.9898 X.11 0.98343 7.54492 -0.0208596 rs138639808 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000649 0.000218 0.000169 0.000000 0.000000 0.000084 0.001245 0.000171 0.000545 0.001245 155 5 5 0 0 2 136 4 3 238856 22910 29518 6658 17954 23736 109196 23380 5504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 155 5 5 0 0 2 136 4 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8436 4226 12662 8 0 8 0.000947418 0 0.000631413 0.000947418 0 0.000631413 18 transition G A G>A 0.000 -0.198 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0004 0.0014 . 0.001 . . . . . . 0.41666666 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . 0.0133 . . . . . . . . 6.956e-04 . . . 0.0001 0.0006 0.0002 0 0 0.0011 0 0.0001 0.0002 0.0008 0.0002 0 0.0002 0.0014 0 0.0001 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.3 0.14 182 ENSG00000185033 SEMA4B SEMA4B . . . . . . 42 0.000646393 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138639808 . . . . . . . . . . . . . . . . . . . . . . . 0.000631 . . . . . 0.0003 0.0007 0.0002 0 0 0.0002 0.0013 0.0007 8.426e-05 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs138639808 rs138639808 1 1538 10 1/0 0,255,255 +rs200690226 15 91292772 A G - BLM 1058 Bloom syndrome, RecQ helicase-like NM_000057.3 1 4555 4254 NP_000048.1 P54132 substitution missense exon GRCh37 91292772 91292772 Chr15(GRCh37):g.91292772A>G 274 274 NM_000057.3:c.274A>G p.Asn92Asp p.Asn92Asp 3 604610 176 3' 88.8265 9.65032 0.813871 3.67552 88.8265 9.65032 0.813871 3.67552 0 rs200690226 yes no Frequency/1000G 2 A uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000126 0.000000 0.000116 0.000000 0.000000 0.000000 0.000229 0.000000 0.000309 0.000229 35 0 4 0 0 0 29 0 2 277104 24024 34412 10150 18858 30780 126630 25782 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 0 4 0 0 0 29 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4396 12990 2 0 2 0.000232666 0 0.000153941 0.000232666 0 0.000153941 70 RCV000462198.1|RCV000203080.2 germline|germline|unknown clinical testing|clinical testing|clinical testing VUS|VUS 1|2 Bloom syndrome|not specified transition A G A>G 0.000 0.690 N Asn AAT 0.464 D Asp GAT 0.461 92 12 4 Dog 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Tolerated 0.38 II.97 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.4827586 . . germline 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.058 . Uncertain//\@significance Uncertain_significance RCV000203080.2 not_specified MedGen CN169374 1 0.432 . . 58.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.7847 -0.804 -0.785 c . . . . . 1.421e-04 . . . 0 0.0002 8.66e-05 0 0 0.0003 0 0 0 0.0001 8.925e-05 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.502 . . exonic exonic exonic . . 0.359 0.0002 . . . 0.63 0.52 182 ENSG00000197299 BLM BLM . . . 1.000 0.441 . . . . . . . Uncertain_significance . 0 . 0.095 . . . . T 0.377 0.016 . . 37 . 0.346 . . 0.276 . . . 0.562 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.274 . . 0.225 . . . . . . 0 0.242 . . . . . 0.406 . 0.041 . HET 0.64 rs200690226 . . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000115300.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009 CLINSIG\x3dunknown\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000115300.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009 . . . . . . IX.29 0.0 ENST00000355112 V.64 III.22 . 0.620000 . . . . 0.000154 . 0.171 . . III.22 0 0.0001 8.935e-05 0 0 0 0.0003 0.0004 0 0 6.457e-05 0.0012 0 0 0 6.66e-05 0 . . 0.730 . 0.357 0.357000 . . 0.620000 . . 1.0E-255 0.001 0.137 . 0.174 0.029 . 0.303 . 0.243 0.357 0.075 0.0002 . . rs200690226 rs200690226 1 1538 10 1/0 0,255,255 +rs146013879 15 91310214 A G - BLM 1058 Bloom syndrome, RecQ helicase-like NM_000057.3 1 4555 4254 NP_000048.1 P54132 substitution synonymous exon GRCh37 91310214 91310214 Chr15(GRCh37):g.91310214A>G 2268 2268 NM_000057.3:c.2268A>G p.Lys756= p.Lys756Lys 10 604610 -40 5' 79.6441 7.80624 0.93931 0 79.6441 7.80624 0.93931 0 0 DNA/RNA helicase, DEAD/DEAH box type, N-terminal DEAD-like helicase DNA helicase, ATP-dependent, RecQ type rs146013879 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.005100 0.000000 0.003000 0.001400 0.001746 0.000333 0.000817 0.004640 0.000053 0.002681 0.002421 0.000039 0.001550 0.004640 482 8 28 47 1 81 306 1 10 276028 24000 34290 10130 18796 30212 126370 25778 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 482 8 28 47 1 81 306 1 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4393 12942 15 1 16 0.00175152 0.000227583 0.00123476 0.00175152 0.000227583 0.00123476 56 RCV000226761.3|RCV000123846.3 germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|Conflicting interpretations of pathogenicity 1|1 Bloom syndrome|not specified COSM5019285 Soft tissue 0.001748 572 transition A G A>G 0.992 0.205 K Lys AAA 0.425 K Lys AAG 0.575 756 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0018 0.0014 . 0.003 0.0051 . . . . . 0.6315789 . . germline 12 . . 1.2.2016 0 0 0 0 1 0 1 1 0 0 0 0 . . . . . . . . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity other|other RCV000123846.3|RCV000226761.2 not_specified|Bloom_syndrome MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0005859:210900:ORPHA125:4434006 2 . . . 19.0 . . . 0.0002 0.0012 0.0018 0.0002 0.0012 0.0018 . 1.0954 . . . . . . . . 1.958e-03 . . . 9.96e-05 0.0020 0.0012 0.0002 0 0.0027 0.0057 0.0028 0.0001 0.0019 0.0012 0.0001 0 0.0025 0.0014 0.0028 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.68 0.5 182 ENSG00000197299 BLM BLM . . . . . . 157 0.00241628 64976 148 0.00246724 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146013879 . . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000123846.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000123846.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009 . . . . . . . . . . . . . . . . . 0.001235 . . . . . 0.0003 0.0019 0.0008 0.0048 5.823e-05 4.487e-05 0.0026 0.0018 0.0027 0.0005 0.0008 0 0 0 0 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs146013879 rs146013879 1 1538 10 1/0 0,255,255 +rs150925934 15 91423337 C T - FURIN 8568 Furin (paired basic amino acid cleaving enzyme) NM_001289823.1 1 4191 2385 NP_001276752.1 P09958 substitution missense exon GRCh37 91423337 91423337 Chr15(GRCh37):g.91423337C>T 1390 1390 NM_001289823.1:c.1390C>T p.Arg464Trp p.Arg464Trp 13 136950 14 3' 79.7977 8.0187 0.556945 11.1362 79.7977 8.0187 0.542697 X.92 -0.00852747 rs150925934 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.002000 0.003000 0.001400 0.000745 0.000084 0.000439 0.000000 0.000851 0.000267 0.001290 0.000000 0.000478 0.001290 201 2 15 0 16 8 157 0 3 269634 23786 34134 9666 18812 30018 121672 25266 6280 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 201 2 15 0 16 8 157 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4394 12978 12 0 12 0.001396 0 0.000923788 0.001396 0 0.000923788 40 transition C T C>T 1.000 2.788 R Arg CGG 0.207 W Trp TGG 1.000 464 12 9 C. elegans -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C15 81.64 71.01 Deleterious 0.01 III.50 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0012 0.0014 0.002 0.003 . ENSG00000140564:ENST00000268171:exon13:c.C1390T:p.R464W FURIN:uc002bpu.1:exon13:c.C1390T:p.R464W . . . 0.4463668 . . @ 129 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.891 . @ . . . . . 1 0.884 . . 289.0 . . . . 0.0009 0.0014 . 0.0009 0.0014 . 0.1093 0.087 0.109 c . . . . . 8.695e-04 . . . 0 0.0007 0.0004 0.0011 0 0.0013 0 6.735e-05 0 0.0008 0.0005 0.0009 0 0.0014 0 6.775e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.636 . . exonic exonic exonic . . 0.417 0.0012 . . . 0.38 0.33 182 ENSG00000140564 FURIN FURIN . . . 1.000 0.747 . 65 0.00100037 64976 59 0.000983563 59986 Uncertain_significance . 0 . 0.447 . . . . D 0.710 0.070 . . 37 . 0.539 . . 0.612 . . . 0.681 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.758 . . 0 0 0 0 0 0 . 0.600 . . 0.405 . . . . . . 0 0.546 . . . . . 0.654 . 0.640 . HET 0.02 rs150925934 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 14.2533 0.0 ENST00000268171 IV.65 III.72 . 0.010000 P09958 . . . 0.000924 . 0.495 . . III.72 6.641e-05 0.0008 0.0004 0 0.0008 0 0.0013 0.0006 0.0003 0.0001 0.0006 0.0012 0 0.0012 0 0.0009 0 . . 0.730 . 1.163 1.163000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.502 0.998 . 0.504 . 0.329 1.163 0.871 0.0028 . . rs150925934 rs150925934 1 1538 10 1/0 0,213,248 +rs144093014 15 93498721 T C - CHD2 1917 Chromodomain helicase DNA binding protein 2 NM_001271.3 1 9364 5487 NP_001262.3 O14647 substitution synonymous exon GRCh37 93498721 93498721 Chr15(GRCh37):g.93498721T>C 1788 1788 NM_001271.3:c.1788T>C p.Tyr596= p.Tyr596Tyr 15 602119 -22 5' 85.1573 6.63725 0.989987 0 85.1573 6.63725 0.989987 0 0 SNF2-related DEAD-like helicase rs144093014 yes no Frequency/1000G 2 T benign 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.006000 0.010100 0.005720 0.001367 0.004273 0.002590 0.000059 0.000076 0.006540 0.018326 0.005314 0.018326 1458 30 123 25 1 2 785 461 31 254878 21950 28788 9654 17026 26446 120024 25156 5834 0.000102 0.000000 0.000139 0.000000 0.000000 0.000000 0.000083 0.000398 0.000343 13 0 2 0 0 0 5 5 1 1432 30 119 25 1 2 775 451 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8538 4387 12925 58 5 63 0.00674732 0.00113843 0.00485063 0.00674732 0.00113843 0.00485063 51 RCV000248249.2|RCV000227352.2 germline|germline|germline clinical testing|clinical testing|clinical testing Benign|Benign 2|1 not specified|Epileptic encephalopathy, childhood-onset transition T C T>C 1.000 0.448 Y Tyr TAT 0.438 Y Tyr TAC 0.562 596 255 PASS . 0.0046 0.02 . 0.01 . 0.0026 0.01 . 0.006 . . . CHD2:NM_001271:exon15:c.T1788C:p.Y596Y . . 0.33333334 . . germline 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Benign//\%//\@Benign Benign|Benign RCV000227352.1|RCV000248249.1 . MedGen:OMIM|MedGen C3809278:615369|CN169374 2 . . . 39.0 . . SYNONYMOUS_CODING(LOW|SILENT|taT/taC|Y596|CHD2|mRNA|CODING|NM_001271|NM_001271.ex.15) 0.0011 0.0049 0.0067 0.0011 0.0049 0.0067 . 1.1242 . . . . . . . . 5.401e-03 . . . 0.0016 0.0049 0.0040 0.0002 0.0220 0.0071 0.0066 6.919e-05 0.0013 0.0061 0.0039 0.0001 0.0215 0.0083 0.0070 6.96e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.5 0.21 182 ENSG00000173575 CHD2 CHD2 . . . . . . 472 0.00726422 64976 459 0.00765179 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144093014 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004851 . . . . . 0.0012 0.0057 0.0044 0.0027 6.49e-05 0.0183 0.0066 0.0047 7.563e-05 0.0016 0.0058 0.0012 0 0 0.0186 0.0061 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs144093014 rs144093014 1 1538 10 1/0 0,255,255 +rs200156126 15 100340072 G C - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340072 100340072 Chr15(GRCh37):g.100340072G>C 855 855 NR_003260.1:n.855C>G 4 -236 5' 72.0444 8.68156 0.754993 13.2286 72.0444 8.68156 0.754993 13.2286 0 rs200156126 yes no Frequency 1 0.000000 0 0.002898 0.013657 0.000656 0.001159 0.000314 0.002797 0.002673 0.001585 0.001634 0.013657 525 185 17 9 4 65 220 18 7 181150 13546 25910 7762 12752 23240 82298 11358 4284 0.000088 0.000886 0.000000 0.000000 0.000000 0.000172 0.000000 0.000000 0.000000 8 6 0 0 0 2 0 0 0 509 173 17 9 4 61 220 18 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.984 -2.297 217 PASS . . . . . . . . . . . . . . . . 0.20289855 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 207.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgC/tgG|C285W|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.6077 . . . . . . . . . . . . 0.0120 0.0031 0.0007 0.0007 0.0004 0.0020 0.0022 0.0050 0.0101 0.0021 0.0006 0.0007 0.0004 0.0010 0.0020 0.0049 . . . . . . ncRNA_exonic upstream\x3bdownstream ncRNA_exonic . . . @ . . . 0.25 0.26 182 ENSG00000182397 . DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.44 rs200156126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0127 0.0021 0.0006 0.0012 0.0003 0.0005 0.0019 0.0011 0.0028 0.0154 0.0097 0.0036 0 0.0009 0.0064 0.0094 0.0050 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs200156126 rs200156126 1 1538 10 1/0 0,204,255 +rs200645530 15 100340097 C T - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340097 100340097 Chr15(GRCh37):g.100340097C>T 830 830 NR_003260.1:n.830G>A 4 -261 5' 72.0444 8.68156 0.754993 13.2286 72.0444 8.68156 0.754993 13.2286 0 Cryptic Donor Strongly Activated 100340096 0.451563 0.037418 62.6288 3.11989 0.455021 71.5895 rs200645530 yes no Frequency 1 0.000000 0 0.000294 0.000509 0.000062 0.003579 0.000228 0.000111 0.000145 0.000000 0.000182 0.003579 67 10 2 32 4 3 15 0 1 228000 19648 32110 8940 17540 26986 103122 14150 5504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 10 2 32 4 3 15 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.992 -0.198 184 PASS . . . . . . . . . . . . . . . . 0.12162162 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 222.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R277H|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.1656 . . . . . . . . 2.502e-03 . . . 0.0021 0.0022 0.0007 0.0013 0.0007 0.0037 0 0.0010 0.0019 0.0021 0.0007 0.0013 0.0005 0.0031 0 0.0010 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.23 0.25 182 ENSG00000182397 DQ595494 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs200645530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0003 6.378e-05 0.0035 0.0002 0 9.924e-05 0.0002 0.0001 0.0007 0.0005 0 0.0070 0 0 0.0005 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . rs200645530 rs200645530 1 1538 10 1/0 0,194,255 +. 15 100340122 GAGA G - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 deletion exon GRCh37 100340123 100340125 Chr15(GRCh37):g.100340123_100340125del 802 804 NR_003260.1:n.802_804del 4 -287 5' 72.0444 8.68156 0.754993 13.2286 72.0444 8.68156 0.754993 13.2286 0 rs368425453 yes no Frequency 1 0.000000 0 0.001913 0.005349 0.000818 0.000589 0.001069 0.000252 0.002433 0.001497 0.001851 0.005349 344 88 23 4 16 6 185 14 8 179834 16452 28122 6790 14972 23784 76038 9354 4322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 343 87 23 4 16 6 185 14 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes TCT 255 Pass . . . . . . . . . . . . DNM1P46:uc010bow.3:exon4:c.430_432del:p.144_144del . . . 0.15350877 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 228 . . CODON_DELETION(MODERATE||tct/-|S268-|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) 0.13 0.18 0.2 . . . . . . . . . . . . . . . . . 0.0452 0.0543 0.0353 0.0491 0.0905 0.0771 0.0568 0.0200 0.0471 0.0603 0.0356 0.0494 0.0847 0.0815 0.0530 0.0199 . nonframeshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368425453 . . . . . . . . . . . . . . . . . . . . . . . 0.176188 . . . . . 0.0045 0.0014 0.0008 0.0006 0.0010 0.0005 0.0020 0.0011 0.0003 0.0070 0.0058 0.0033 0 0.0017 0.0050 0.0061 0.0070 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 . . rs368425453 rs368425453 1 1538 10 1.I 0,6,81 +rs200691929 15 100340175 T A - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340175 100340175 Chr15(GRCh37):g.100340175T>A 752 752 NR_003260.1:n.752A>T 4 285 3' 79.9923 8.80835 0.466919 11.1478 79.9923 8.80835 0.466919 11.1478 0 rs200691929 yes no Frequency 1 0.000000 0 transversion A T A>T 0.929 1.093 216 PASS . . . . . . . . . . . . . . . . 0.20111732 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 179.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gTa|E251V|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.4418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.26 0.27 182 ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200691929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs200691929 rs200691929 1 1538 10 1/0 0,211,255 +rs113166086 15 100340178 C T - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340178 100340178 Chr15(GRCh37):g.100340178C>T 749 749 NR_003260.1:n.749G>A 4 282 3' 79.9923 8.80835 0.466919 11.1478 79.9923 8.80835 0.466919 11.1478 0 rs113166086 no no 0 0.000000 0 0.003568 0.036934 0.002751 0.000000 0.001174 0.000540 0.000362 0.000172 0.001961 0.036934 358 279 41 0 9 6 17 1 5 100340 7554 14906 3828 7666 11116 46908 5812 2550 0.000578 0.006884 0.000134 0.000000 0.000000 0.000000 0.000043 0.000000 0.000784 29 26 1 0 0 0 1 0 1 156 110 5 1 1 12 23 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.929 0.286 113 PASS . . . . . . . . . . . . . . . . 0.23952095 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 167.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R250Q|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.4513 . . . . . . . . . . . . 0.0271 0.0031 0.0025 0 0 0.0003 0 0.0008 0.0273 0.0023 0.0026 0.0005 0 7.284e-05 0.0052 0.0008 . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.18 0.19 182 ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0340 0.0027 0.0027 0 0.0011 0.0002 0.0004 0.0019 0.0005 0.0420 0.0099 0.0051 0 0.0014 0 0.0002 0.0024 . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +rs200037202 15 100340179 G C - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340179 100340179 Chr15(GRCh37):g.100340179G>C 748 748 NR_003260.1:n.748C>G 4 281 3' 79.9923 8.80835 0.466919 11.1478 79.9923 8.80835 0.466919 11.1478 0 rs200037202 yes no Frequency 1 0.000000 0 0.008945 0.040067 0.004348 0.000000 0.000000 0.000000 0.000143 0.000000 0.002128 0.040067 123 119 2 0 0 0 1 0 1 13750 2970 460 170 856 0 7010 1814 470 0.048780 0.050420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 6 6 0 0 0 0 0 0 0 110 107 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 76 Genomes transversion C G C>G 0.953 1.577 226 PASS . . . . . . . . . . . . . . . . 0.25882354 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 170.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R250G|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.5080 . . . . . . . . . . . . 0.0148 0.0013 0.0013 0 0 0.0001 0 0.0003 0.0145 0.0009 0.0013 0 0 5.834e-05 0.0024 0.0003 . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.2 0.17 182 ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs200037202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0401 0.0089 0.0043 0 0 0 0.0001 0.0021 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . rs200037202 rs200037202 1 1538 10 1/0 0,221,255 +rs202053487 15 100340217 T C - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340217 100340217 Chr15(GRCh37):g.100340217T>C 710 710 NR_003260.1:n.710A>G 4 243 3' 79.9923 8.80835 0.466919 11.1478 79.9923 8.80835 0.466919 11.1478 0 rs202053487 yes no Frequency 1 0.000000 0 0.000423 0.001205 0.000292 0.000109 0.000000 0.000297 0.000478 0.000522 0.000000 0.001205 94 19 9 1 0 8 50 7 0 222336 15766 30816 9166 16322 26902 104572 13414 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 94 19 9 1 0 8 50 7 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.433 -0.037 179 PASS . . . . . . . . . . . . DNM1P46:uc010bow.3:exon3:c.A403G:p.R135G . . . 0.11111111 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 144.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q237R|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.2672 . . . . . . . . 5.172e-05 . . . 0 7.594e-05 0.0001 0 0 0.0001 0 0 0 6.235e-05 0.0001 0 0 9.135e-05 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.23 182 ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs202053487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0004 0.0002 0 0 0.0006 0.0004 0 0.0003 0.0009 0.0009 0.0046 0.0042 0 0.0004 0.0008 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs202053487 rs202053487 1 1538 10 1/0 0,211,255 +rs2603227 15 100348531 T G - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution upstream GRCh37 100348531 100348531 Chr15(GRCh37):g.100348531T>G -1399 -1399 NR_003260.1:n.-1399A>C p.? p.? 1 -1531 5' 71.6826 7.06725 0.303648 8.04941 71.6826 7.06725 0.303648 8.04941 0 rs2603227 yes no Frequency/1000G 2 0.000000 0 0.001043 0.004161 0.000556 0.000000 0.001698 0.000815 0.001060 0.000435 0.001461 0.004161 96 19 9 0 10 12 40 2 4 92036 4566 16194 5590 5890 14728 37730 4600 2738 0.000152 0.000000 0.000124 0.000000 0.000340 0.000679 0.000000 0.000000 0.000000 7 0 1 0 1 5 0 0 0 82 19 7 0 8 2 40 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.004 -1.005 111 PASS 0.12 0.08 0.08 0.07 0.07 . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 6.0 . . UPSTREAM(MODIFIER||||DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|) . . . . . . . -0.6343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intergenic . . . @ . . . 0.22 0.2 182 ENSG00000259363 DJ031154 . . . dist\x3d1399\x3bdist\x3d163112 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs183563600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0003 0.0003 0 0.0006 0 6.451e-05 0.0004 0.0008 0.0082 0.0059 0.0085 0 0.0118 0.0012 0.0056 0.0065 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.12 rs2603227 rs2603227 rs2603227 rs183563600 1 1538 255 1.I 0,0,255 +rs2603226 15 100348533 G C - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution upstream GRCh37 100348533 100348533 Chr15(GRCh37):g.100348533G>C -1401 -1401 NR_003260.1:n.-1401C>G p.? p.? 1 -1533 5' 71.6826 7.06725 0.303648 8.04941 71.6826 7.06725 0.303648 8.04941 0 rs2603226 yes no Frequency/1000G 2 0.000000 0 0.001107 0.004694 0.000498 0.000000 0.002244 0.001025 0.001017 0.000435 0.001476 0.004694 101 21 8 0 13 15 38 2 4 91236 4474 16072 5566 5794 14640 37382 4598 2710 0.000241 0.000447 0.000124 0.000000 0.000345 0.000956 0.000054 0.000000 0.000000 11 1 1 0 1 7 1 0 0 79 19 6 0 11 1 36 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.005 111 PASS 0.13 0.08 0.08 0.07 0.06 . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 6.0 . . UPSTREAM(MODIFIER||||DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|) . . . . . . . -0.6412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intergenic . . . @ . . . 0.16 0.24 182 ENSG00000259363 DJ031154 . . . dist\x3d1401\x3bdist\x3d163110 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2603226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0004 0.0003 0 0.0006 0 6.511e-05 0.0004 0.0010 0.0084 0.0059 0.0064 0 0.0166 0.0012 0.0054 0.0067 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.13 rs2603226 rs2603226 rs2603226 rs188658537 1 1538 255 1.I 0,0,255 +rs200920459 15 101601343 G A - LRRK1 18608 Leucine rich repeat kinase 1 NM_024652.5 1 10449 6048 NP_078928.3 Q38SD2 substitution intron GRCh37 101601343 101601343 Chr15(GRCh37):g.101601343G>A 4680-33 4680-33 NM_024652.5:c.4680-33G>A p.? p.? 30 29 610986 -33 3' 87.9949 8.67379 0.610602 5.69471 87.9949 8.67379 0.610602 5.67277 0 New Acceptor Site 101601345 2.79526 0.054206 79.0082 rs200920459 yes no Frequency 1 G 0.000000 0 0.000152 0.000084 0.000266 0.000000 0.000106 0.000034 0.000212 0.000000 0.000159 0.000266 41 2 9 0 2 1 26 0 1 269472 23800 33850 9564 18792 29772 122398 25002 6294 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 2 9 0 2 1 26 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8374 4138 12512 4 0 4 0.000477441 0 0.000319591 0.000477441 0 0.000319591 58 transition G A G>A 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.40449437 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||LRRK1|mRNA|CODING|NM_024652|) . 0.0003 0.0005 . 0.0003 0.0005 . -0.3309 . . . . . . . . 1.594e-04 . . . 0.0001 0.0002 0.0002 0.0002 0 0.0003 0 0 0.0001 0.0001 0.0002 0.0003 0 0.0002 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.37 0.27 182 ENSG00000259755 LRRK1 LRRK1 . . . . . . 5 7.69515e-05 64976 5 8.33528e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200920459 . . . . . . . . . . . . . . . . . . . . . . . 0.000320 . . . . . 0.0001 0.0002 0.0003 0 0.0001 0 0.0002 0 3.359e-05 0 0.0001 0 0 0 0 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs200920459 rs200920459 1 1538 10 1/0 0,255,255 +rs117481449 15 101775770 C T - CHSY1 17198 Chondroitin sulfate synthase 1 NM_014918.4 -1 4550 2409 NP_055733.2 Q86X52 substitution synonymous exon GRCh37 101775770 101775770 Chr15(GRCh37):g.101775770C>T 333 333 NM_014918.4:c.333G>A p.Lys111= p.Lys111Lys 2 608183 13 3' 90.3996 5.99612 0.741385 3.39182 90.3996 5.99612 0.693883 III.54 -0.0213573 Fringe-like rs117481449 yes no Frequency/1000G 2 C 0.000000 0 0.008187 0.000000 0.003100 0.000000 0.005000 0.047600 0.008978 0.000835 0.053081 0.001380 0.000000 0.002438 0.003784 0.000565 0.005137 0.053081 2459 20 1826 14 0 75 478 13 33 273878 23966 34400 10146 18840 30768 126322 23012 6424 0.000431 0.000000 0.003256 0.000000 0.000000 0.000195 0.000000 0.000000 0.000000 59 0 56 0 0 3 0 0 0 2341 20 1714 14 0 69 478 13 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8554 4400 12954 46 6 52 0.00534884 0.00136178 0.00399815 0.00534884 0.00136178 0.00399815 63 COSM6195058 Breast 0.000408 2453 transition G A G>A 1.000 1.013 K Lys AAG 0.575 K Lys AAA 0.425 111 255 PASS . 0.01 0.03 . 0.01 . 0.0082 0.048 . 0.005 0.0031 ENSG00000131873:ENST00000254190:exon2:c.G333A:p.K111K CHSY1:uc021sxt.1:exon2:c.G333A:p.K111K CHSY1:NM_014918:exon2:c.G333A:p.K111K . . 0.37142858 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K111|CHSY1|mRNA|CODING|NM_014918|NM_014918.ex.2) 0.0014 0.004 0.0053 0.0014 0.004 0.0053 . I.27 . . . . . . . . 7.458e-03 . . . 0.0009 0.0096 0.0557 0 0.0008 0.0039 0.0014 0.0025 0.0005 0.0082 0.0562 0 0.0008 0.0034 0 0.0026 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0082 . . . 0.32 0.25 182 ENSG00000131873 CHSY1 CHSY1 . . . . . . 182 0.00280103 64976 141 0.00235055 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117481449 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . 0.003998 . . . . V.21 0.0006 0.0097 0.0535 0.0013 0 0.0005 0.0039 0.0057 0.0024 0.0013 0.0030 0.0370 0.0033 0 0.0009 0.0029 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . rs117481449 rs117481449 1 1538 10 1/0 0,255,255 +rs200632191 (chr15:102292708 T/C) 15 102292708 T C Not on a known gene +rs752893197 (chr15:102292723 A/C) 15 102292723 A C Not on a known gene +rs746421537 (chr15:102292726 G/A) 15 102292726 G A Not on a known gene +rs202055108 (chr15:102293002 G/C) 15 102293002 G C Not on a known gene +rs201286101 (chr15:102293038 C/G) 15 102293038 C G Not on a known gene +rs201195005 (chr15:102293102 A/C) 15 102293102 A C Not on a known gene +rs2943081 (chr15:102293253 T/G) 15 102293253 T G Not on a known gene +. (chr15:102293266 T/C) 15 102293266 T C Not on a known gene +rs200475579 (chr15:102293924 C/A) 15 102293924 C A Not on a known gene +rs201315134 (chr15:102294439 G/T) 15 102294439 G T Not on a known gene +rs201999854 (chr15:102295130 G/A) 15 102295130 G A Not on a known gene +. (chr15:102295171 AGCT/A) 15 102295171 AGCT A Not on a known gene +. (chr15:102295697 AGCT/A) 15 102295697 AGCT A Not on a known gene +. (chr15:102295802 C/G) 15 102295802 C G Not on a known gene +rs199633252 (chr15:102296272 C/A) 15 102296272 C A Not on a known gene +. (chr15:102296517 G/A) 15 102296517 G A Not on a known gene +rs202073613 (chr15:102298279 C/A) 15 102298279 C A Not on a known gene +rs77472710 (chr15:102298506 A/G) 15 102298506 A G Not on a known gene +rs74648399 (chr15:102298528 T/C) 15 102298528 T C Not on a known gene +rs201471263 (chr15:102298601 A/C) 15 102298601 A C Not on a known gene +rs201598659 (chr15:102298718 G/C) 15 102298718 G C Not on a known gene +. (chr15:102298763 T/C) 15 102298763 T C Not on a known gene +. (chr15:102298785 A/C) 15 102298785 A C Not on a known gene +. (chr15:102298792 G/C) 15 102298792 G C Not on a known gene +rs200935451 (chr15:102298912 C/T) 15 102298912 C T Not on a known gene +rs74475076 (chr15:102298934 G/T) 15 102298934 G T Not on a known gene +rs530751 (chr15:102298942 C/G) 15 102298942 C G Not on a known gene +rs199874910 (chr15:102299099 G/C) 15 102299099 G C Not on a known gene +rs201166317 (chr15:102299366 G/C) 15 102299366 G C Not on a known gene +. (chr15:102299397 A/G) 15 102299397 A G Not on a known gene +rs768463706 (chr15:102300064 C/T) 15 102300064 C T Not on a known gene +rs202145896 (chr15:102300756 G/C) 15 102300756 G C Not on a known gene +rs201384893 (chr15:102301378 G/C) 15 102301378 G C Not on a known gene +. (chr15:102301414 C/G) 15 102301414 C G Not on a known gene +rs200671492 (chr15:102301789 C/T) 15 102301789 C T Not on a known gene +. (chr15:102302872 G/C) 15 102302872 G C Not on a known gene +. (chr15:102302892 G/A) 15 102302892 G A Not on a known gene +rs199758609 (chr15:102303180 C/A) 15 102303180 C A Not on a known gene +rs201320552 (chr15:102303526 A/G) 15 102303526 A G Not on a known gene +rs377573891 (chr15:102303750 A/T) 15 102303750 A T Not on a known gene +rs370132054 (chr15:102303753 C/A) 15 102303753 C A Not on a known gene +rs879038227 (chr15:102304631 C/T) 15 102304631 C T Not on a known gene +rs137881065 (chr15:102304638 C/T) 15 102304638 C T Not on a known gene +. (chr15:102304643 G/C) 15 102304643 G C Not on a known gene +rs573929742 (chr15:102313267 C/T) 15 102313267 C T Not on a known gene +rs775307138 15 102500754 C A - MIR1302-10 38233 MicroRNA 1302-10 NR_036267.1 1 138 0 substitution exon GRCh37 102500754 102500754 Chr15(GRCh37):g.102500754C>A 93 93 NR_036267.1:n.93C>A 1 rs775307138 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 11.0 . . . . . . . . . . -0.5762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . 0.59 0.15 182 ENSG00000259553 WASH3P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs775307138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4248191 rs4248191 rs4248191 rs4248191 1 1538 10 1/0 0,255,255 +rs775307138 15 102500754 C A - WASH3P 24362 WAS protein family homolog 3 pseudogene NR_003659.2 1 2554 0 substitution upstream GRCh37 102500754 102500754 Chr15(GRCh37):g.102500754C>A -262 -262 NR_003659.2:n.-262C>A p.? p.? 1 -1091 5' 90.6189 10.0684 0.959757 14.5285 90.6189 10.0684 0.959757 14.5285 0 rs775307138 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 11.0 . . . . . . . . . . -0.5762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . 0.59 0.15 182 ENSG00000259553 WASH3P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs775307138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4248191 rs4248191 rs4248191 rs4248191 1 1538 10 1/0 0,255,255 +rs878873154 15 102512161 T C - MIR6859-3 50248 MicroRNA 6859-3 NR_107063.1 1 68 0 substitution upstream GRCh37 102512161 102512161 Chr15(GRCh37):g.102512161T>C -1566 -1566 NR_107063.1:n.-1566T>C p.? p.? 1 rs878873154 no no 0 T 0.000000 0 0.000327 0.000000 0.004202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004202 1 0 1 0 0 0 0 0 0 3062 178 238 48 458 0 1216 794 130 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition T C T>C 0.028 0.609 243 PASS . . . . . . . . . . . . WASH3P:uc031qum.1:exon1:c.T97C:p.C33R . . . 0.29032257 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.7253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.5 0.17 182 ENSG00000185596 WASH3P WASH3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000354296 0.719 0.719 . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0042 0 0 0 0 0 . . . . 0.570 0.570000 . . . . . 1.0E-243 . . . . . . . . . 0.570 . . rs11266755 rs11266755 rs11266755 rs11266755 1 1538 10 1/0 0,255,255 +rs878873154 15 102512161 T C - WASH3P 24362 WAS protein family homolog 3 pseudogene NR_003659.2 1 2554 0 substitution intron GRCh37 102512161 102512161 Chr15(GRCh37):g.102512161T>C 984-638 984-638 NR_003659.2:n.984-638T>C p.? p.? 3 2 -638 3' 0 2.49904 0.72244 0 0 2.49904 0.72244 0 0 rs878873154 no no 0 T 0.000000 0 0.000327 0.000000 0.004202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004202 1 0 1 0 0 0 0 0 0 3062 178 238 48 458 0 1216 794 130 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition T C T>C 0.028 0.609 243 PASS . . . . . . . . . . . . WASH3P:uc031qum.1:exon1:c.T97C:p.C33R . . . 0.29032257 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.7253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.5 0.17 182 ENSG00000185596 WASH3P WASH3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000354296 0.719 0.719 . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0042 0 0 0 0 0 . . . . 0.570 0.570000 . . . . . 1.0E-243 . . . . . . . . . 0.570 . . rs11266755 rs11266755 rs11266755 rs11266755 1 1538 10 1/0 0,255,255 +rs28455646 15 102517678 C G - DDX11L9 37109 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 NR_034090.1 -1 1652 0 substitution exon GRCh37 102517678 102517678 Chr15(GRCh37):g.102517678C>G 735 735 NR_034090.1:n.735G>C 3 272 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 rs28455646 yes no Frequency/1000G 2 0.000000 0 0.000041 0.000000 0.000000 0.000189 0.000000 0.000000 0.000087 0.000000 0.000000 0.000189 4 0 0 1 0 0 3 0 0 97438 1418 22760 5286 13572 11690 34654 5608 2450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transversion G C G>C 0.016 -0.037 255 PASS 0.04 0.02 0.01 0.0035 0.02 . . . . . . . DDX11L9:uc010utv.1:exon3:c.G255C:p.Q85H . . . 0.39772728 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . -0.3936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.71 0.23 182 ENSG00000248472 DDX11L9 DDX11L9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs28455646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.105e-05 0 0.0002 0 0 8.657e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 rs28455646 rs28455646 rs28455646 rs183939985 1 1538 10 1/0 0,251,255 +rs28455646 15 102517678 C G - WASH3P 24362 WAS protein family homolog 3 pseudogene NR_003659.2 1 2554 0 substitution downstream GRCh37 102517678 102517678 Chr15(GRCh37):g.102517678C>G *870 *870 NR_003659.2:n.*870C>G p.? p.? 11 1343 3' 93.5871 8.33551 0.970926 9.19921 93.5871 8.33551 0.970926 9.19921 0 rs28455646 yes no Frequency/1000G 2 0.000000 0 0.000041 0.000000 0.000000 0.000189 0.000000 0.000000 0.000087 0.000000 0.000000 0.000189 4 0 0 1 0 0 3 0 0 97438 1418 22760 5286 13572 11690 34654 5608 2450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transversion C G C>G 0.016 -0.037 255 PASS 0.04 0.02 0.01 0.0035 0.02 . . . . . . . DDX11L9:uc010utv.1:exon3:c.G255C:p.Q85H . . . 0.39772728 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . -0.3936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.71 0.23 182 ENSG00000248472 DDX11L9 DDX11L9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs28455646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.105e-05 0 0.0002 0 0 8.657e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 rs28455646 rs28455646 rs28455646 rs183939985 1 1538 10 1/0 0,251,255 +. 15 102518972 C G - DDX11L9 37109 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 NR_034090.1 -1 1652 0 substitution exon GRCh37 102518972 102518972 Chr15(GRCh37):g.102518972C>G 325 325 NR_034090.1:n.325G>C 1 -30 5' 78.9497 9.09184 0.971166 4.42046 78.9497 9.09184 0.971166 4.38247 0 transversion G C G>C 0.992 -0.117 255 PASS . . . . . . . . . . . . DDX11L9:uc010utv.1:exon1:c.G9C:p.E3D . . . 0.7222222 . . @ 117 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 162.0 . . . . . . . . . . -0.3311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.74 0.29 182 ENSG00000248472 DDX11L9 DDX11L9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . IV.38 . ENST00000515173 0.848 -1.27 . . B7ZGX9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.365 -0.365000 . . . . . 1.0E-255 . . . . . . . . . -0.365 . . rs3871692 rs3871692 rs3871692 rs3871692 1 1538 10 1/0 0,242,239 +rs200079147 16 66940 G A - MIR6859-4 50840 MicroRNA 6859-4 NR_128720.1 -1 68 0 substitution downstream GRCh37 66940 66940 Chr16(GRCh37):g.66940G>A *112 *112 NR_128720.1:n.*112C>T p.? p.? 1 rs200079147 yes no Frequency 1 G 0.000000 0 0.001797 0.002238 0.000590 0.001749 0.000338 0.000806 0.002368 0.003077 0.001692 0.003077 396 35 18 14 6 21 225 68 9 220402 15638 30524 8004 17762 26044 95008 22102 5320 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 396 35 18 14 6 21 225 68 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.044 175 PASS . . . . . . . . . . . ENSG00000234769:ENST00000326592:exon5:c.C696T:p.S232S WASH1:uc002cfg.1:exon5:c.C696T:p.S232S . . . 0.10309278 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . . . . . . . . . 0.5750 . . . . . . . . 2.507e-03 . . . 0.0029 0.0042 0.0020 0.0006 0.0075 0.0066 0.008 0.0027 0.0026 0.0042 0.0017 0.0011 0.0077 0.0061 0.0072 0.0027 synonymous_SNV synonymous_SNV . . . . exonic exonic downstream . . . @ . . . 0.37 0.48 182 ENSG00000234769 WASH1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200079147 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0014 0.0006 0.0015 0.0003 0.0028 0.0018 0.0016 0.0008 0.0038 0.0045 0 0.0084 0.0006 0.0046 0.0057 0.0023 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs200079147 rs200079147 1 1538 10 1/0 0,228,255 +rs201686602 16 67086 A G - MIR6859-4 50840 MicroRNA 6859-4 NR_128720.1 -1 68 0 substitution exon GRCh37 67086 67086 Chr16(GRCh37):g.67086A>G 34 34 NR_128720.1:n.34T>C 1 rs201686602 yes no Frequency 1 A 0.000000 0 0.006375 0.003295 0.004705 0.014669 0.000169 0.009042 0.008361 0.004291 0.004854 0.014669 932 47 105 70 2 151 467 71 19 146194 14266 22316 4772 11824 16700 55856 16546 3914 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 1 0 0 0 0 0 1 0 0 930 47 105 70 2 151 465 71 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.378 -0.037 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 126.0 . . . . . . . . . . -0.1993 . . . . . . . . 7.127e-03 . . . 0.0086 0.0284 0.0291 0 0 0.0297 0.0204 0.0390 0.0069 0.0303 0.0203 0 0.0198 0.0342 0.0185 0.0392 . . . . . . UTR3 intronic ncRNA_exonic . . . @ . . . 0.65 0.55 182 ENSG00000234769 WASH1 . ENST00000495251:c.*584T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201686602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0066 0.0046 0.0146 9.796e-05 0.0041 0.0089 0.0053 0.0090 0.0047 0.0056 0.0064 0.0157 0.0006 0.0049 0.0068 0.0033 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs201686602 rs201686602 1 1538 10 1/0 0,217,255 +. 16 203950 G GGGCC - HBZ 4835 Hemoglobin, zeta NM_005332.2 1 589 429 NP_005323.1 P02008 insertion frameshift exon GRCh37 203951 203952 Chr16(GRCh37):g.203951_203952insGCCG 156 157 NM_005332.2:c.156_157insGCCG p.Ser53Alafs*125 p.Ser53Alafs*125 2 142310 61 3' 77.8172 6.88875 0.484402 6.63635 77.8172 6.88875 0.484402 5.42728 0 Cryptic Acceptor Weakly Activated 203961 3.68918 0.023737 64.6008 4.57366 0.005153 67.1456 Haemoglobin, alpha Haemoglobin, zeta Haemoglobin, pi Globin, subset GCCG 255 Pass . . . . . . . . . . . ENSG00000130656:ENST00000252951:exon2:c.155_156insGGCC:p.G52fs HBZ:uc002cft.1:exon2:c.155_156insGGCC:p.G52fs HBZ:NM_005332:exon2:c.155_156insGGCC:p.G52fs . . 0.1880734 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 218 . . FRAME_SHIFT(HIGH||||HBZ|mRNA|CODING|NM_005332|NM_005332.ex.2) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000130656 HBZ HBZ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,73 +. 16 214540 G GGGCC - HBM 4826 Hemoglobin, mu NM_001003938.3 1 510 426 NP_001003938.1 Q6B0K9 insertion upstream GRCh37 214541 214542 Chr16(GRCh37):g.214541_214542insGCCG -1456 -1455 NM_001003938.3:c.-1456_-1455insGCCG p.? p.? 1 609639 -1547 5' 80.0369 VII.76 0.31402 7.93171 80.0369 VII.76 0.31402 7.93171 0 Cryptic Acceptor Weakly Activated 214551 3.68918 0.023737 64.6008 4.57366 0.005153 67.1456 GCCG 255 Pass . . . . . . . . . . . . . . . . 0.18518518 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 216 . . UPSTREAM(MODIFIER||||HBM|mRNA|CODING|NM_001003938|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . . . . . . . . ENSG00000206178 . . . dist\x3d10036\x3bdist\x3d1433 dist\x3d10036\x3bdist\x3d1433 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,73 +. 16 214540 G GGGCC - HBZP1 4836 Hemoglobin subunit zeta pseudogene 1 ENST00000354915.3 1 429 0 insertion exon GRCh37 214541 214542 Chr16(GRCh37):g.214541_214542insGCCG 156 157 ENST00000354915.3:n.156_157insGCCG 2 61 3' 77.8172 6.88875 0.484402 6.63635 77.8172 6.88875 0.484402 5.42728 0 Cryptic Acceptor Weakly Activated 214551 3.68918 0.023737 64.6008 4.57366 0.005153 67.1456 GCCG 255 Pass . . . . . . . . . . . . . . . . 0.18518518 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 216 . . UPSTREAM(MODIFIER||||HBM|mRNA|CODING|NM_001003938|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . . . . . . . . ENSG00000206178 . . . dist\x3d10036\x3bdist\x3d1433 dist\x3d10036\x3bdist\x3d1433 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,73 +rs141494605 16 216593 T C - HBM 4826 Hemoglobin, mu NM_001003938.3 1 510 426 NP_001003938.1 Q6B0K9 substitution synonymous exon GRCh37 216593 216593 Chr16(GRCh37):g.216593T>C 312 312 NM_001003938.3:c.312T>C p.Cys104= p.Cys104Cys 3 609639 15 3' 83.612 XI.69 0.840803 13.3159 83.612 XI.69 0.810393 13.5011 -0.0120559 Globin, subset rs141494605 yes no Frequency/1000G 2 T 0.000000 0 0.004393 0.000000 0.002000 0.000000 0.011900 0.011500 0.008309 0.001130 0.011933 0.038865 0.000053 0.003104 0.009566 0.003004 0.013023 0.038865 2291 27 410 393 1 95 1204 77 84 275728 23904 34358 10112 18802 30608 125864 25630 6450 0.000123 0.000000 0.000116 0.001187 0.000000 0.000065 0.000127 0.000000 0.000000 17 0 2 6 0 1 8 0 0 2257 27 406 381 1 93 1188 77 84 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8510 4401 12911 90 5 95 0.0104651 0.00113482 0.00730432 0.0104651 0.00113482 0.00730432 59 COSM4128809 Thyroid 0.002677 747 transition T C T>C 0.142 0.367 C Cys TGT 0.448 C Cys TGC 0.552 104 255 PASS . 0.0037 0.01 . 0.01 . 0.0044 0.011 . 0.012 0.002 ENSG00000206177:ENST00000356815:exon3:c.T312C:p.C104C HBM:uc002cfu.1:exon3:c.T312C:p.C104C HBM:NM_001003938:exon3:c.T312C:p.C104C . . 0.48453608 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C104|HBM|mRNA|CODING|NM_001003938|NM_001003938.ex.3) 0.0011 0.0073 0.011 0.0011 0.0073 0.011 . 0.9261 . . . . . . . . 8.486e-03 . . . 0.0013 0.0098 0.0106 0 0.0041 0.0159 0.0095 0.0033 0.0014 0.0095 0.0106 0 0.0037 0.0145 0.0068 0.0034 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0044 . . . 0.28 0.57 182 ENSG00000206177 HBM HBM . . . . . . 1441 0.0221774 64976 1419 0.0236555 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141494605 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.007304 . . . . . 0.0011 0.0087 0.0120 0.0394 5.819e-05 0.0030 0.0099 0.0139 0.0031 0.0011 0.0049 0.0095 0.0199 0 0.0029 0.0073 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141494605 rs141494605 1 1538 10 1/0 0,255,255 +rs141494605 16 216593 T C - HBZP1 4836 Hemoglobin subunit zeta pseudogene 1 ENST00000354915.3 1 429 0 substitution downstream GRCh37 216593 216593 Chr16(GRCh37):g.216593T>C *1438 *1438 ENST00000354915.3:n.*1438T>C p.? p.? 3 1567 3' 70.1573 7.12429 0.477091 XI.27 70.1573 7.12429 0.477091 XI.27 0 rs141494605 yes no Frequency/1000G 2 T 0.000000 0 0.004393 0.000000 0.002000 0.000000 0.011900 0.011500 0.008309 0.001130 0.011933 0.038865 0.000053 0.003104 0.009566 0.003004 0.013023 0.038865 2291 27 410 393 1 95 1204 77 84 275728 23904 34358 10112 18802 30608 125864 25630 6450 0.000123 0.000000 0.000116 0.001187 0.000000 0.000065 0.000127 0.000000 0.000000 17 0 2 6 0 1 8 0 0 2257 27 406 381 1 93 1188 77 84 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8510 4401 12911 90 5 95 0.0104651 0.00113482 0.00730432 0.0104651 0.00113482 0.00730432 59 COSM4128809 Thyroid 0.002677 747 transition T C T>C 0.142 0.367 255 PASS . 0.0037 0.01 . 0.01 . 0.0044 0.011 . 0.012 0.002 ENSG00000206177:ENST00000356815:exon3:c.T312C:p.C104C HBM:uc002cfu.1:exon3:c.T312C:p.C104C HBM:NM_001003938:exon3:c.T312C:p.C104C . . 0.48453608 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C104|HBM|mRNA|CODING|NM_001003938|NM_001003938.ex.3) 0.0011 0.0073 0.011 0.0011 0.0073 0.011 . 0.9261 . . . . . . . . 8.486e-03 . . . 0.0013 0.0098 0.0106 0 0.0041 0.0159 0.0095 0.0033 0.0014 0.0095 0.0106 0 0.0037 0.0145 0.0068 0.0034 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0044 . . . 0.28 0.57 182 ENSG00000206177 HBM HBM . . . . . . 1441 0.0221774 64976 1419 0.0236555 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141494605 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.007304 . . . . . 0.0011 0.0087 0.0120 0.0394 5.819e-05 0.0030 0.0099 0.0139 0.0031 0.0011 0.0049 0.0095 0.0199 0 0.0029 0.0073 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141494605 rs141494605 1 1538 10 1/0 0,255,255 +. 16 324935 T G - RGS11 9993 Regulator of G-protein signaling 11 NM_183337.2 -1 2404 1404 NP_899180.1 O94810 substitution intron GRCh37 324935 324935 Chr16(GRCh37):g.324935T>G 318+41 318+41 NM_183337.2:c.318+41A>C p.? p.? 4 4 603895 41 5' 85.0987 7.19963 0.857516 XII.79 85.0987 7.19963 0.857516 XII.41 0 Cryptic Acceptor Strongly Activated 324919 2.78762 0.087194 69.8102 5.19025 0.251519 69.8102 0.002728 0.000912 0.009782 0.003377 0.003040 0.003357 0.001684 0.000694 0.001532 0.009782 356 12 132 19 28 60 90 10 5 130478 13160 13494 5626 9210 17872 53450 14402 3264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 356 12 132 19 28 60 90 10 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.087 0.851 175 PASS . . . . . . . . . . . ENSG00000076344:ENST00000431291:exon3:c.A115C:p.T39P . . . . 0.10344828 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.6720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000076344 . RGS11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.79 . ENST00000431291 0.412 0.412 . 0.000000 . . . . . . . . . . 0.0012 0.0032 0.0102 0.0035 0.0037 0.0003 0.0021 0.0020 0.0034 0.0007 0.0007 0 0 0 0.0031 0.0005 0 . . . . 0.377 0.377000 . . 0.000000 . . 1.0E-175 . . . . . . . . . 0.377 . . . . . . 1 1538 10 1.I 0,0,0 +. 16 335450 T G - AXIN1 903 Axin 1 NM_003502.3 -1 3660 2589 NP_003493.1 O15169 substitution downstream GRCh37 335450 335450 Chr16(GRCh37):g.335450T>G *2672 *2672 NM_003502.3:c.*2672A>C p.? p.? 11 603816 2799 3' 81.4899 X.74 0.9318 XI.77 81.4899 X.74 0.9318 XI.77 0 transversion A C A>C 0.000 -3.346 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.1922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000185615 . PDIA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 16 335450 T G - PDIA2 14180 Protein disulfide isomerase family A member 2 NM_006849.3 1 1713 1578 NP_006840.2 Q13087 substitution intron GRCh37 335450 335450 Chr16(GRCh37):g.335450T>G 921+13 921+13 NM_006849.3:c.921+13T>G p.? p.? 6 6 608012 13 5' 71.8032 9.04236 0.496207 X.39 71.8032 9.04236 0.496207 11.1635 0 transversion T G T>G 0.000 -3.346 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.1922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000185615 . PDIA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 16 538711 C CTTT - RAB11FIP3 17224 RAB11 family interacting protein 3 (class II) NM_014700.3 1 4252 2271 NP_055515.1 O75154 duplication intron GRCh37 538726 538727 Chr16(GRCh37):g.538724_538726dup 1116-127 1116-125 NM_014700.3:c.1116-127_1116-125dup p.? p.? 5 4 608738 -124 3' 97.3622 XI.08 0.992247 XI.14 97.3622 XI.08 0.992247 XI.14 0 0.001931 0.000713 0.001667 0.000000 0.001361 0.000000 0.001012 0.012794 0.002801 0.012794 48 5 1 0 2 0 13 25 2 24856 7016 600 262 1470 0 12840 1954 714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 191 70 8 3 2 0 50 50 8 0 0 0 0 0 0 0 0 0 RF 46 Genomes TTT 255 Pass . . . . . . . . . . . . . . . . 0.6571429 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000090565 RAB11FIP3 RAB11FIP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3079539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0019 0.0017 0 0.0014 0.0128 0.0010 0.0028 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,18 +rs573366705 16 599580 C G - CAPN15 11182 Calpain 15 NM_005632.2 1 4744 3261 NP_005623.1 O75808 substitution intron GRCh37 599580 599580 Chr16(GRCh37):g.599580C>G 1843-35 1843-35 NM_005632.2:c.1843-35C>G p.? p.? 7 6 603267 -35 3' 81.9728 7.91912 0.92441 5.31021 81.9728 7.91912 0.92441 5.36165 0 0.001568 0.004843 0.005731 0.000000 0.010369 0.000676 0.001144 0.000000 0.004016 0.010369 67 4 20 0 9 7 23 0 4 42718 826 3490 3284 868 10360 20112 2782 996 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 4 20 0 9 7 23 0 4 0 0 0 0 0 0 0 0 0 RF 157 Exomes transversion C G C>G 0.000 0.286 238 PASS . . . . . . . . . . . . . . . . 0.27272728 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||CAPN15|mRNA|CODING|NM_005632|) . . . . . . . 0.6700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000261691 SOLH CAPN15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0016 0.0057 0 0.0104 0 0.0011 0.0040 0.0007 . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs377083511 16 599584 C G - CAPN15 11182 Calpain 15 NM_005632.2 1 4744 3261 NP_005623.1 O75808 substitution intron GRCh37 599584 599584 Chr16(GRCh37):g.599584C>G 1843-31 1843-31 NM_005632.2:c.1843-31C>G p.? p.? 7 6 603267 -31 3' 81.9728 7.91912 0.92441 5.31021 81.9728 7.91912 0.92441 5.44578 0 0.001118 0.001669 0.003880 0.000267 0.002075 0.000707 0.000790 0.001631 0.000727 0.003880 63 6 16 1 4 8 21 6 1 56348 3594 4124 3750 1928 11314 26584 3678 1376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 6 16 1 4 8 21 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.086 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||CAPN15|mRNA|CODING|NM_005632|) . . . . . . . 0.1735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000261691 SOLH CAPN15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0010 0.0040 0.0003 0.0038 0.0003 0.0007 0.0009 0.0007 0.0012 0.0015 0 0 0 0.0086 0.0012 0 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs58615599 16 1257092 C T - CACNA1H 1395 Calcium channel, voltage-dependent, T type, alpha 1H subunit NM_021098.2 1 8088 7062 NP_066921.2 O95180 substitution synonymous exon GRCh37 1257092 1257092 Chr16(GRCh37):g.1257092C>T 2881 2881 NM_021098.2:c.2881C>T p.Leu961= p.Leu961Leu 13 607904 -27 5' 72.5078 6.12739 0.772638 X.28 72.5078 6.12739 0.772638 9.57876 0 Ion transport rs58615599 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.008900 0.005800 0.005041 0.001424 0.002827 0.000826 0.000000 0.001444 0.008721 0.003112 0.005751 0.008721 1273 31 91 8 0 40 994 74 35 252528 21772 32188 9682 17346 27700 113978 23776 6086 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000053 0.000000 0.000000 3 0 0 0 0 0 3 0 0 1267 31 91 8 0 40 988 74 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8377 4242 12619 67 10 77 0.00793463 0.00235183 0.0060649 0.00793463 0.00235183 0.0060649 61 transition C T C>T 1.000 2.304 L Leu CTG 0.404 L Leu TTG 0.127 961 255 PASS . 0.01 0.01 . 0.01 . 0.0026 0.0058 . 0.0089 . . . . . . 0.44927537 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . . 0.0024 0.0061 0.0079 0.0024 0.0061 0.0079 . I.58 . . . . . . . . 4.575e-03 . . . 0.0021 0.0073 0.0049 0 0.0056 0.0122 0.0030 0.0026 0.0023 0.0079 0.0051 0 0.0050 0.0129 0.0098 0.0026 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.22 0.29 182 ENSG00000196557 CACNA1H CACNA1H . . . . . . 455 0.00700259 64976 443 0.00738506 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs58615599 . . . . . . . . . . . . . . . . . . . . . . . 0.006065 . . . . . 0.0013 0.0048 0.0028 0.0007 0 0.0033 0.0082 0.0053 0.0014 0.0016 0.0070 0.0024 0.0033 0 0.0020 0.0123 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs58615599 rs58615599 rs58615599 rs58615599 1 1538 10 1/0 0,239,255 +. 16 1279171 T TC - TPSB2 14120 Tryptase beta 2 (gene/pseudogene) NM_024164.5 -1 1165 828 NP_077078.5 P20231 duplication intron NG_032951.1 6013 6014 NG_032951.1:g.6013dup 499+19 499+19 NM_024164.5:c.499+19dup p.? p.? 4 4 191081 19 5' 76.7393 6.18234 0.481621 7.849 76.7393 6.18234 0.481621 7.73503 0 rs372459129 yes no Frequency 1 0.000000 0 0.008999 0.007997 0.007907 0.001425 0.049580 0.021601 0.005003 0.000422 0.008457 0.049580 271 25 43 1 59 68 66 1 8 30114 3126 5438 702 1190 3148 13192 2372 946 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 271 25 43 1 59 68 66 1 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 2078 574 2652 32 2 34 0.0151659 0.00347222 0.0126582 0.0151659 0.00347222 0.0126582 2 G 255 Pass . . . . . . . . . . . . . . . . 0.2536232 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 138 . . . 0.0035 0.013 0.015 0.0035 0.013 0.015 . . . . . . . . . . 2.667e-04 . . . 0 0 0 . 0 0 0 0 0 0 0 . 0 0 . 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000197253 TPSB2 TPSB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372459129 . . . . . . . . . . . . . . . . . . . . . . . 0.012696 . . . . . 0.0088 0.0097 0.0080 0.0015 0.0497 0.0005 0.0054 0.0094 0.0216 0.0025 0.0019 0 0 0 0 0.0025 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.015 . rs71145405 rs71145405 rs71145405 1 1538 10 1.I 0,9,60 +. 16 1292316 A G - TPSAB1 12019 Tryptase alpha/beta 1 NM_003294.3 1 1194 828 NP_003285.2 P20231 substitution 3'UTR GRCh37 1292316 1292316 Chr16(GRCh37):g.1292316A>G *75 *75 NM_003294.3:c.*75A>G p.? p.? 6 191080 240 3' 86.5904 8.83161 0.930986 6.63645 86.5904 8.83161 0.930986 6.63645 0 transition A G A>G 0.000 0.044 235 PASS . . . . . . . . . . . . . . . . 0.27631578 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 304.0 . . UTR_3_PRIME(MODIFIER||||TPSAB1|mRNA|CODING|NM_003294|NM_003294.ex.6) . . . . . . . 0.2699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000172236 TPSAB1 TPSAB1 . . NM_003294:c.*75A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs146882667 16 1365781 G A - UBE2I 12485 Ubiquitin-conjugating enzyme E2I NM_003345.4 1 2860 477 NP_003336.1 P63279 substitution intron GRCh37 1365781 1365781 Chr16(GRCh37):g.1365781G>A 223+54 223+54 NM_003345.4:c.223+54G>A p.? p.? 4 4 601661 54 5' 87.0783 8.62318 0.973076 6.36233 87.0783 8.62318 0.973076 6.13151 0 rs146882667 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.001000 0.004300 0.001878 0.000375 0.000930 0.000000 0.000000 0.000715 0.003152 0.001794 0.001859 0.003152 520 9 32 0 0 22 399 46 12 276880 23994 34420 10140 18864 30782 126582 25644 6454 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 518 9 32 0 0 22 397 46 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3175 1383 4558 7 1 8 0.00219987 0.000722543 0.00175208 0.00219987 0.000722543 0.00175208 58 transition G A G>A 0.000 -1.570 255 PASS . 0.0014 0.01 . 0.0013 . 0.0008 0.0043 . 0.001 . . . . . . 0.6 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . 0.0007 0.0018 0.0022 0.0007 0.0018 0.0022 . -0.2569 . . . . . . . . 2.021e-03 . . . 0.0004 0.0015 0.0008 0 0.0018 0.0025 0.0028 0.0006 0.0003 0.0020 0.0007 0 0.0021 0.0032 0.0029 0.0006 . . . . . . intronic UTR3 intronic . . . 0.0008 . . . 0.33 0.18 182 ENSG00000103275 UBE2I UBE2I . uc002cle.2:c.*46G>A . . . . 130 0.00200074 64976 126 0.00210049 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146882667 . . . . . . . . . . . . . . . . . . . . . . . 0.001752 . . . . . 0.0005 0.0019 0.0010 0 0 0.0019 0.0033 0.0020 0.0007 0.0002 0.0014 0 0 0 0.0011 0.0024 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs146882667 rs146882667 1 1538 10 1/0 0,255,255 +. 16 1578329 CACGT C - IFT140 29077 Intraflagellar transport 140 homolog (Chlamydomonas) NM_014714.3 -1 5268 4389 NP_055529.2 Q96RY7 deletion intron GRCh37 1578330 1578333 Chr16(GRCh37):g.1578330_1578333del 2400-1536 2400-1533 NM_014714.3:c.2400-1536_2400-1533del p.? p.? 20 19 614620 -1533 3' 76.481 7.56643 0.561953 X.27 76.481 7.56643 0.561953 X.27 0 rs200018284 yes no Frequency/1000G 2 0.000000 0 0.004496 0.001863 0.009852 0.000000 0.023166 0.000000 0.004697 0.000000 0.006329 0.023166 133 15 8 0 36 0 68 0 6 29582 8052 812 288 1554 0 14476 3452 948 0.030075 0.000000 0.000000 0.000000 0.055556 0.000000 0.014706 0.000000 0.166667 4 0 0 0 2 0 1 0 1 119 14 7 0 28 0 66 0 4 0 0 0 0 0 0 0 0 0 RF 44 Genomes ACGT 255 Pass 0.01 0.08 0.15 0.12 0.06 . . . . . . . . . . . 0.4057971 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000187535 IFT140 IFT140 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200018284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0045 0.0099 0 0.0232 0 0.0047 0.0063 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 . . rs200018284 rs200018284 1 1538 10 1.I 0,12,39 +. 16 1578329 CACGT C - TMEM204 14158 Transmembrane protein 204 NM_001256541.1 1 1633 681 NP_001243470.1 Q9BSN7 deletion upstream GRCh37 1578330 1578333 Chr16(GRCh37):g.1578330_1578333del -810 -807 NM_001256541.1:c.-810_-807del p.? p.? 1 611002 -465 5' 86.7234 X.83 0.988653 13.9136 86.7234 X.83 0.988653 13.9136 0 rs200018284 yes no Frequency/1000G 2 0.000000 0 0.004496 0.001863 0.009852 0.000000 0.023166 0.000000 0.004697 0.000000 0.006329 0.023166 133 15 8 0 36 0 68 0 6 29582 8052 812 288 1554 0 14476 3452 948 0.030075 0.000000 0.000000 0.000000 0.055556 0.000000 0.014706 0.000000 0.166667 4 0 0 0 2 0 1 0 1 119 14 7 0 28 0 66 0 4 0 0 0 0 0 0 0 0 0 RF 44 Genomes ACGT 255 Pass 0.01 0.08 0.15 0.12 0.06 . . . . . . . . . . . 0.4057971 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000187535 IFT140 IFT140 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200018284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0045 0.0099 0 0.0232 0 0.0047 0.0063 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 . . rs200018284 rs200018284 1 1538 10 1.I 0,12,39 +rs139103048 16 1825605 C T - EME2 27289 Essential meiotic structure-specific endonuclease subunit 2 NM_001257370.1 1 1140 1140 NP_001244299.1 A4GXA9 substitution synonymous exon GRCh37 1825605 1825605 Chr16(GRCh37):g.1825605C>T 699 699 NM_001257370.1:c.699C>T p.Asp233= p.Asp233Asp 6 610886 36 3' 84.5394 8.07093 0.963922 X.43 84.5394 8.07093 0.963922 X.23 0 rs139103048 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.001000 0.000000 0.003000 0.011500 0.003288 0.000626 0.004185 0.020553 0.000000 0.001917 0.003616 0.000116 0.003720 0.020553 909 15 144 208 0 59 456 3 24 276438 23950 34412 10120 18858 30774 126094 25778 6452 0.000036 0.000000 0.000058 0.000395 0.000000 0.000065 0.000016 0.000000 0.000000 5 0 1 2 0 1 1 0 0 899 15 142 204 0 57 454 3 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8553 4390 12943 41 4 45 0.00477077 0.000910332 0.00346474 0.00477077 0.000910332 0.00346474 47 transition C T C>T 0.000 -2.619 D Asp GAC 0.539 D Asp GAT 0.461 233 255 PASS . 0.0018 0.01 . 0.0013 . 0.0024 0.011 . 0.003 0.001 . . EME2:NM_001257370:exon6:c.C699T:p.D233D . . 0.43438914 . . @ 96 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 221.0 . . . 0.0009 0.0035 0.0048 0.0009 0.0035 0.0048 . 0.6200 . . . . . . . . 3.277e-03 . . . 0.0006 0.0039 0.0043 0 0 0.0065 0.0014 0.0017 0.0006 0.0032 0.0043 0 0 0.0048 0.0014 0.0016 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.28 0.35 182 ENSG00000197774 EME2 EME2 . . . . . . 159 0.00244706 64976 147 0.00245057 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs139103048 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.003465 . . . . . 0.0009 0.0035 0.0041 0.0205 0 4.487e-05 0.0037 0.0040 0.0019 0.0002 0.0019 0.0060 0.0232 0 0.0006 0.0027 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139103048 rs139103048 1 1538 10 1/0 0,220,245 +rs139103048 16 1825605 C T - SPSB3 30629 SplA/ryanodine receptor domain and SOCS box containing 3 NM_001324081.1 -1 1496 1068 NP_001311010.1 Q6PJ21 substitution downstream GRCh37 1825605 1825605 Chr16(GRCh37):g.1825605C>T *1493 *1493 NM_001324081.1:c.*1493G>A p.? p.? 7 611659 1840 3' 85.9048 10.351 0.864999 X.67 85.9048 10.351 0.864999 X.67 0 rs139103048 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.001000 0.000000 0.003000 0.011500 0.003288 0.000626 0.004185 0.020553 0.000000 0.001917 0.003616 0.000116 0.003720 0.020553 909 15 144 208 0 59 456 3 24 276438 23950 34412 10120 18858 30774 126094 25778 6452 0.000036 0.000000 0.000058 0.000395 0.000000 0.000065 0.000016 0.000000 0.000000 5 0 1 2 0 1 1 0 0 899 15 142 204 0 57 454 3 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8553 4390 12943 41 4 45 0.00477077 0.000910332 0.00346474 0.00477077 0.000910332 0.00346474 47 transition G A G>A 0.000 -2.619 255 PASS . 0.0018 0.01 . 0.0013 . 0.0024 0.011 . 0.003 0.001 . . EME2:NM_001257370:exon6:c.C699T:p.D233D . . 0.43438914 . . @ 96 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 221.0 . . . 0.0009 0.0035 0.0048 0.0009 0.0035 0.0048 . 0.6200 . . . . . . . . 3.277e-03 . . . 0.0006 0.0039 0.0043 0 0 0.0065 0.0014 0.0017 0.0006 0.0032 0.0043 0 0 0.0048 0.0014 0.0016 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.28 0.35 182 ENSG00000197774 EME2 EME2 . . . . . . 159 0.00244706 64976 147 0.00245057 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs139103048 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.003465 . . . . . 0.0009 0.0035 0.0041 0.0205 0 4.487e-05 0.0037 0.0040 0.0019 0.0002 0.0019 0.0060 0.0232 0 0.0006 0.0027 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139103048 rs139103048 1 1538 10 1/0 0,220,245 +rs187219682 16 2025103 A G - TBL3 11587 Transducin (beta)-like 3 NM_006453.2 1 2594 2427 NP_006444.2 Q12788 substitution splice site GRCh37 2025103 2025103 Chr16(GRCh37):g.2025103A>G 635+4 635+4 NM_006453.2:c.635+4A>G p.? p.? 7 7 605915 4 5' 84.3389 7.1624 0.851969 9.27202 74.2583 6.32183 0.268326 7.23011 -0.307312 rs187219682 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000800 0.000000 0.000000 0.007000 0.005800 0.001869 0.000459 0.004098 0.000099 0.000000 0.000000 0.002606 0.000443 0.003413 0.004098 515 11 141 1 0 0 329 11 22 275618 23960 34406 10134 18860 30774 126224 24814 6446 0.000022 0.000000 0.000174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 0 3 0 0 0 0 0 0 509 11 135 1 0 0 329 11 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4389 12966 23 5 28 0.00267442 0.00113792 0.00215484 0.00267442 0.00113792 0.00215484 39 transition A G A>G 0.654 0.367 255 PASS . 0.0023 0.0028 . 0.01 0.0008 0.0024 0.0058 . 0.007 . . . . . . 0.4899329 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . 0.0011 0.0022 0.0027 0.0011 0.0022 0.0027 . I.64 . . . . . . . . 2.069e-03 . . . 0.0007 0.0024 0.0046 0 0 0.0038 0.0029 0 0.0008 0.0021 0.0046 0 0.0002 0.0030 0.0014 0 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.33 0.17 182 ENSG00000183751 TBL3 TBL3 . . . . . . 131 0.00201613 64976 119 0.0019838 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs187219682 . . . . . . . . . . . . . . . . . . . . 0.0946 0.352 . 0.002155 . . . . 2.VI 0.0005 0.0019 0.0040 0.0001 0 0.0005 0.0027 0.0037 0 0.0003 0.0015 0.0095 0 0 0.0003 0.0021 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187219682 rs187219682 1 1538 10 1/0 0,241,255 +rs756987474 16 2035982 G A - GFER 4236 Growth factor, augmenter of liver regeneration NM_005262.2 1 2409 618 NP_005253.3 P55789 substitution missense exon GRCh37 2035982 2035982 Chr16(GRCh37):g.2035982G>A 571 571 NM_005262.2:c.571G>A p.Val191Met p.Val191Met 3 600924 116 3' 84.3288 9.99254 0.896296 15.5565 84.3288 9.99254 0.896296 15.5565 0 Erv1/Alr rs756987474 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245824 15272 33580 9842 17240 30780 111508 22120 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 159 Exomes COSM5850356 Thyroid 0.007576 132 transition G A G>A 0.992 3.353 V Val GTG 0.468 M Met ATG 1.000 191 12 11 C. elegans 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 86.96 0.00 Deleterious 0.04 III.35 bad 1.062E-3 0.001228 255 PASS . . . . . . . . . . . . . GFER:NM_005262:exon3:c.G571A:p.V191M . . 0.45535713 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.589 . @ . . . . . 1 0.871 . . 112.0 . . . . . . . . . . 0.4447 0.326 0.445 c . . . . . 1.580e-05 . . . . . . . . . . . 0 9.419e-06 0 0 0 1.84e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.574 . . exonic exonic exonic . . 0.386 @ . . . . . . ENSG00000127554 GFER GFER . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.673 0.058 . . 37 . 0.739 . . 0.792 . . . 0.803 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.558 . . 0 0 0 0 0 0 . 0.715 . . 0.668 . . . . . . 0 0.357 . . . . . 0.579 . 0.663 . HET 0.04 rs756987474 . . . . . . . . . . . . 13.005 . ENST00000248114 IV.43 III.46 . 0.040000 . . . . . . 0.563 . . III.46 0 4.068e-06 0 0 0 0 8.968e-06 0 0 . . . . . . . . . . 0.854 . 0.958 0.958000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.653 0.803 . 0.783 . 0.449 0.958 0.917 . . . . . 1 1538 10 1/0 0,252,255 +rs79357051 16 2103830 T C - TSC2 12363 Tuberous sclerosis 2 NM_000548.4 1 5734 5424 NP_000539.2 P49815 substitution intron GRCh37 2103830 2103830 Chr16(GRCh37):g.2103830T>C 336+377 336+377 NM_000548.4:c.336+377T>C p.? p.? 4 4 191092 377 5' 94.9812 11.083 0.995169 13.9193 94.9812 11.083 0.995169 13.9193 0 rs79357051 yes no Frequency/1000G 2 not_provided 0.000000 0 0.004193 0.000000 0.002000 0.000000 0.013900 0.007200 0.006587 0.001579 0.005702 0.003625 0.000000 0.007255 0.010179 0.001264 0.009715 0.010179 1006 23 139 29 0 162 599 11 43 152714 14562 24376 8000 11470 22328 58848 8704 4426 0.000039 0.000000 0.000000 0.000000 0.000000 0.000000 0.000068 0.000230 0.000000 3 0 0 0 0 0 2 1 0 1000 23 139 29 0 162 595 9 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000119933.1 germline reference population Not provided 0 not specified transition T C T>C 0.000 -0.360 255 PASS . 0.01 0.01 . 0.01 . 0.0042 0.0072 . 0.014 0.002 . TSC2:uc010uvu.1:exon4:c.T713C:p.L238P . . . 0.45217392 . . germline 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . not//\@provided not_provided RCV000119933.1 not_specified MedGen CN169374 2 . . . 115.0 . . . . . . . . . . 0.0110 . . . . . . . . 3.994e-03 . . . 0.0057 0.0089 0.0125 0 0 0.0063 0 0.0100 0.0057 0.0088 0.0125 0 0 0.0064 0 0.0100 . nonsynonymous_SNV . . . . intronic exonic intronic . . . 0.0042 . . . 0.56 0.15 182 ENSG00000103197 TSC2 TSC2 . . . . . . 523 0.00804913 64976 504 0.00840196 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79357051 0.011 0.007 . . CLINSIG\x3duntested\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000119933.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3duntested\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000119933.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0070 0.0057 0.0036 0 0.0017 0.0108 0.0113 0.0073 0.0015 0.0049 0.0048 0.0033 0 0.0006 0.0084 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs79357051 rs79357051 1 1538 10 1/0 0,254,255 +rs565323545 16 4164830 G C - ADCY9 240 Adenylate cyclase 9 NM_001116.3 -1 7727 4062 NP_001107.2 O60503 substitution missense exon GRCh37 4164830 4164830 Chr16(GRCh37):g.4164830G>C 614 614 NM_001116.3:c.614C>G p.Ser205Cys p.Ser205Cys 2 603302 657 3' 88.711 X.44 0.739625 X.73 88.711 X.44 0.739625 X.73 0 rs565323545 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000036 4 0 0 0 0 0 4 0 0 245868 15272 33574 9840 17240 30776 111420 22264 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes transversion C G C>G 0.992 0.528 S Ser TCC 0.220 C Cys TGC 0.552 205 14 5 Cat -1 -1 -2 I.42 II.75 9.II 5.V 32 55 112 C0 353.86 0.00 Tolerated 0.16 IV.32 unknown 0.0 0.0 255 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000162104:ENST00000294016:exon2:c.C614G:p.S205C ADCY9:uc002cvx.3:exon2:c.C614G:p.S205C ADCY9:NM_001116:exon2:c.C614G:p.S205C . . 0.43069306 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.280 . . 202.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tGc|S205C|ADCY9|mRNA|CODING|NM_001116|NM_001116.ex.2) . . . . . . . -0.2475 -0.195 -0.247 c . . . . . 7.894e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.286 . . exonic exonic exonic . . 0.272 0.0002 . . . . . . ENSG00000162104 ADCY9 ADCY9 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.113 . . . . T 0.221 0.008 . . 37 . 0.229 . . 0.207 . . . 0.498 0.270 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.333 . . 0.328 . . . . . . 0 0.223 . . . . . 0.159 . 0.495 . HET 0.05 rs565323545 . . . . . . . . . . . . V.69 . ENST00000294016 V.41 II.25 . 0.050000 O60503 . . . . . 0.639 . . II.25 0 1.627e-05 0 0 0 0 3.59e-05 0 0 . . . . . . . . . . 0.994 . 0.646 0.646000 . . 0.050000 . . 1.0E-255 0.979 0.349 . 0.604 0.989 . 0.310 . 0.713 0.646 0.069 . . . . . 1 1538 10 1/0 0,224,252 +rs535358909 16 4562308 C T - CDIP1 13234 Cell death-inducing p53 target 1 NM_001199054.1 -1 2774 627 NP_001185983.1 Q9H305 substitution 3'UTR GRCh37 4562308 4562308 Chr16(GRCh37):g.4562308C>T *265 *265 NM_001199054.1:c.*265G>A p.? p.? 6 610503 377 3' 83.0702 11.0418 0.686648 X.47 83.0702 11.0418 0.686648 X.47 0 New Acceptor Site 4562306 6.56783 0.116033 75.7052 rs535358909 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30956 8724 838 300 1622 0 15000 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.039 0.044 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.36507937 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . . . . . . . . . 0.2799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . . . . ENSG00000089486 CDIP1 CDIP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535358909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.23e-05 0 0 0 0 6.667e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs535358909 16 4562308 C T - HMOX2 5014 Heme oxygenase 2 NM_001286267.1 1 1852 1113 NP_001273196.1 substitution downstream GRCh37 4562308 4562308 Chr16(GRCh37):g.4562308C>T *2551 *2551 NM_001286267.1:c.*2551C>T p.? p.? 7 141251 2679 3' 76.844 VI.01 0.783254 5.77964 76.844 VI.01 0.783254 5.77964 0 rs535358909 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30956 8724 838 300 1622 0 15000 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.039 0.044 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.36507937 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . . . . . . . . . 0.2799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . . . . ENSG00000089486 CDIP1 CDIP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535358909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.23e-05 0 0 0 0 6.667e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs35239167 16 4803043 C T - ZNF500 23716 Zinc finger protein 500 NM_021646.3 -1 5728 1443 NP_067678.1 O60304 substitution synonymous exon GRCh37 4803043 4803043 Chr16(GRCh37):g.4803043C>T 777 777 NM_021646.3:c.777G>A p.Leu259= p.Leu259Leu 6 17 3' 92.4556 10.0178 0.974977 7.99578 92.4556 10.0178 0.971208 VII.45 -0.00128858 rs35239167 yes no Frequency/1000G 2 C 0.000000 0 0.003594 0.000800 0.007200 0.000000 0.008900 0.001400 0.006269 0.001811 0.001749 0.000923 0.000000 0.004959 0.009688 0.006958 0.006947 0.009688 1295 42 42 4 0 83 997 94 33 206588 23192 24020 4332 17138 16738 102908 13510 4750 0.000087 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 0.000148 0.000421 9 0 0 0 0 0 7 1 1 1277 42 42 4 0 83 983 92 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8504 4372 12876 74 8 82 0.00862672 0.00182648 0.00632814 0.00862672 0.00182648 0.00632814 42 transition G A G>A 0.000 -1.974 L Leu TTG 0.127 L Leu TTA 0.073 259 255 PASS . 0.0032 . . 0.01 0.0008 0.0036 0.0014 . 0.0089 0.0072 . . . . . 0.5060241 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . . 0.0018 0.0063 0.0086 0.0018 0.0063 0.0086 . -0.2410 . . . . . . . . 6.093e-03 . . . 0.0016 0.0058 0.0011 0 0.0066 0.0091 0.0034 0.0056 0.0017 0.0060 0.0011 0 0.0064 0.0088 0 0.0057 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.29 0.3 182 ENSG00000103199 ZNF500 ZNF500 . . . . . . 545 0.00838771 64976 527 0.00878538 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35239167 . . . . . . . . . . . . . . . . . . . . . . . 0.006328 . . . . . 0.0018 0.0063 0.0016 0.0010 0 0.0071 0.0097 0.0064 0.0050 0.0018 0.0063 0.0060 0 0 0.0066 0.0094 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs35239167 rs35239167 rs35239167 rs35239167 1 1538 10 1/0 0,255,255 +rs139297283 16 4828042 G C - SEPT12 26348 Septin 12 NM_144605.4 -1 1524 1077 NP_653206.2 Q8IYM1 substitution intron GRCh37 4828042 4828042 Chr16(GRCh37):g.4828042G>C 876-43 876-43 NM_144605.4:c.876-43C>G p.? p.? 10 9 611562 -43 3' 75.5229 7.27731 0.302289 5.91284 75.5229 7.27731 0.302289 5.49077 0 rs139297283 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000800 0.000000 0.001000 0.010900 0.015900 0.009262 0.001642 0.006709 0.034359 0.000107 0.002911 0.010337 0.017968 0.013129 0.034359 2540 39 229 346 2 89 1292 459 84 274234 23754 34134 10070 18768 30572 124992 25546 6398 0.000139 0.000000 0.000000 0.000993 0.000000 0.000131 0.000128 0.000313 0.000000 19 0 0 5 0 2 8 4 0 2502 39 229 336 2 85 1276 451 84 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8501 4388 12889 99 4 103 0.0115116 0.000910747 0.00792796 0.0115116 0.000910747 0.00792796 46 transversion C G C>G 0.000 -0.360 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.0048 0.016 0.001 0.011 . . . . . . 0.54545456 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . 0.0009 0.0079 0.011 0.0009 0.0079 0.011 . 0.2032 . . . . . . . . 9.639e-03 . . . 0.0019 0.0091 0.0065 0.0004 0.0167 0.0143 0.0143 0.0035 0.0024 0.0107 0.0065 0 0.0195 0.0156 0.0115 0.0035 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.23 0.24 182 ENSG00000140623 SEPT12 SEPT12 . . . . . . 611 0.00940347 64976 587 0.00978562 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139297283 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.007928 . . . . . 0.0020 0.0095 0.0067 0.0344 0.0001 0.0179 0.0105 0.0135 0.0029 0.0010 0.0075 0.0060 0.0331 0 0.0183 0.0088 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139297283 rs139297283 1 1538 10 1/0 0,242,255 +rs144847645 16 5046357 C T - SEC14L5 29032 SEC14-like 5 (S. cerevisiae) NM_014692.1 1 6456 2091 NP_055507.1 O43304 substitution synonymous exon GRCh37 5046357 5046357 Chr16(GRCh37):g.5046357C>T 676 676 NM_014692.1:c.676C>T p.Leu226= p.Leu226Leu 7 9 3' 78.8947 7.53369 0.97705 6.51319 78.8947 7.53369 0.977271 6.30516 7.5397e-05 rs144847645 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.000000 0.001000 0.000000 0.011900 0.011500 0.008373 0.001533 0.006146 0.027624 0.000000 0.002602 0.011485 0.007574 0.010753 0.027624 1600 26 156 239 0 60 912 153 54 191086 16960 25384 8652 12402 23056 79408 20202 5022 0.000188 0.000000 0.000079 0.000925 0.000000 0.000173 0.000227 0.000099 0.000398 18 0 1 4 0 2 9 1 1 1564 26 154 231 0 56 894 151 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8077 3908 11985 93 6 99 0.0113831 0.00153296 0.00819265 0.0113831 0.00153296 0.00819265 22 transition C T C>T 0.984 -0.037 L Leu CTG 0.404 L Leu TTG 0.127 226 255 PASS . 0.0041 0.01 . 0.01 . 0.0042 0.011 . 0.012 0.001 ENSG00000103184:ENST00000251170:exon7:c.C676T:p.L226L SEC14L5:uc002cye.2:exon7:c.C676T:p.L226L SEC14L5:NM_014692:exon7:c.C676T:p.L226L . . 0.42 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 100.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L226|SEC14L5|mRNA|CODING|NM_014692|NM_014692.ex.7) 0.0015 0.0082 0.011 0.0015 0.0082 0.011 . 0.8375 . . . . . . . . 5.443e-03 . . . 0.0014 0.0117 0.0158 0 0.0303 0.0223 0.0051 0.0028 0.0019 0.0136 0.0182 0 0.0132 0.0317 0.0066 0.0028 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0042 . . . 0.11 0.29 182 ENSG00000103184 SEC14L5 SEC14L5 . . . . . . 660 0.0101576 64976 638 0.0106358 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144847645 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.008193 . . . . . 0.0011 0.0086 0.0062 0.0278 0 0.0074 0.0118 0.0116 0.0026 0.0020 0.0070 0.0048 0.0232 0 0.0083 0.0101 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs144847645 rs144847645 1 1538 10 1/0 0,255,255 +rs573391690 16 5078268 C G - NAGPA 17378 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase NM_016256.3 -1 2209 1548 NP_057340.2 Q9UK23 substitution intron GRCh37 5078268 5078268 Chr16(GRCh37):g.5078268C>G 921-82 921-82 NM_016256.3:c.921-82G>C p.? p.? 6 5 607985 -82 3' 79.9735 6.95478 0.614249 XI.28 79.9735 6.95478 0.614249 XI.17 0 rs573391690 yes no Frequency/1000G 2 C 0.000399 G 2 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000035 0.000000 0.000000 0.000000 0.000000 0.000000 0.000091 0.000000 0.000000 0.000091 6 0 0 0 0 0 6 0 0 171130 15576 24642 8306 11690 22592 65900 17748 4676 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.117 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.5132743 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . INTRON(MODIFIER||||NAGPA|mRNA|CODING|NM_016256|) . . . . . . . -0.1353 . . . . . . . . 4.564e-05 . . . 0 7.005e-05 0 0 0 0.0002 0 0 0 8.214e-05 0 0 0 0.0003 0 0 . . . . . . ncRNA_intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000267072 NAGPA NAGPA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs573391690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.56e-05 0 0 0 0 9.794e-05 0 0 0 3.259e-05 0 0 0 0 6.736e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 7629766 C T - RBFOX1 18222 RNA binding protein, fox-1 homolog (C. elegans) 1 NM_001308117.1 1 1684 1278 NP_001295046.1 substitution intron GRCh37 7629766 7629766 Chr16(GRCh37):g.7629766C>T 400-13 400-13 NM_001308117.1:c.400-13C>T p.? p.? 6 5 605104 -13 3' 85.0232 8.62726 0.978632 X.34 87.2224 8.57717 0.989403 X.49 0.0103553 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245424 15286 33554 9812 17224 30772 111050 22262 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition C T C>T 0.717 1.255 255 PASS . . . . . . . . . . . . . . . . 0.5263158 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . I.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000078328 RBFOX1 RBFOX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.86 0 8.149e-06 0 0 0 0 1.801e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs764698987 16 10851750 C T - NUBP1 8041 Nucleotide binding protein 1 NM_002484.3 1 1287 963 NP_002475.2 P53384 substitution stop gain exon GRCh37 10851750 10851750 Chr16(GRCh37):g.10851750C>T 472 472 NM_002484.3:c.472C>T p.Arg158* p.Arg158* 7 600280 21 3' 87.0458 9.1792 0.988049 7.47492 87.0458 9.1792 0.988049 7.06916 0 CobQ/CobB/MinD/ParA nucleotide binding domain ATPase MipZ/NubP2/Cfd1 AAA+ ATPase domain P-loop containing nucleoside triphosphate hydrolase rs764698987 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246198 15304 33582 9844 17248 30782 111670 22286 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 67 Exomes transition C T C>T 0.843 1.900 R Arg CGA 0.110 * * TGA 0.489 158 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.985 . @ . . . . . 0 0.886 . . 92.0 . . . . . . . . . . 0.8924 0.730 0.892 c . . . . . 7.892e-06 . . . 0 1.103e-05 0 0 0 2.376e-05 0 0 0 9.419e-06 0 0 0 1.841e-05 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.672 @ . . . . . . ENSG00000103274 NUBP1 NUBP1 . . . 0.959 0.284 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.759 . . . LowAF 0.52 rs764698987 . . . . . . . . . . . . 15.5632 . . 5.IV 5.IV . 0.380000 . . . Name\x3dnsv833140 . . 0.520 . . 5.IV 0 4.062e-06 0 0 0 0 8.955e-06 0 0 . . . . . . . . . . 0.924 . 2.339 2.339000 . . 0.380000 . . 1.0E-188 0.996 0.391 . 0.494 0.993 . 0.521 . 0.362 2.339 0.871 . . . . . 1 1538 10 1/0 0,232,255 +rs72650683 16 11038558 G T - CLEC16A 29013 C-type lectin domain family 16, member A NM_015226.2 1 6891 3162 NP_056041.1 Q2KHT3 substitution 5'UTR GRCh37 11038558 11038558 Chr16(GRCh37):g.11038558G>T -17 -17 NM_015226.2:c.-17G>T p.? p.? 1 611303 -97 5' 83.5016 9.09532 0.987792 12.064 83.5016 9.09532 0.987792 12.064 0 rs72650683 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.003944 0.000678 0.001230 0.000429 0.000000 0.000072 0.005198 0.014809 0.003130 0.014809 949 14 40 4 0 2 547 324 18 240644 20664 32520 9328 17472 27806 105226 21878 5750 0.000050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000038 0.000366 0.000000 6 0 0 0 0 0 2 4 0 937 14 40 4 0 2 543 316 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8070 3799 11869 28 1 29 0.00345764 0.000263158 0.00243738 0.00345764 0.000263158 0.00243738 10 transversion G T G>T 0.000 0.125 255 PASS . . . . . . 0.001 0.0014 . 0.004 . . . . . . 0.43055555 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . 0.0003 0.0024 0.0035 0.0003 0.0024 0.0035 . 0.9438 . . . . . . . . 3.537e-03 . . . 0.0003 0.0036 0.0017 0 0.0304 0.0059 0.0062 9.414e-05 0.0006 0.0059 0.0015 0 0.0309 0.0095 0.0099 9.443e-05 . . . . . . UTR5 UTR5 UTR5 . . . 0.0010 . . . 0.59 0.5 182 ENSG00000038532 CLEC16A CLEC16A . . . . . . 259 0.00398609 64976 254 0.00423432 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72650683 . . . . . . . . . . . . . . . . . . . . . . . 0.002437 . . . . . 0.0008 0.0040 0.0012 0.0004 0 0.0149 0.0054 0.0031 7.193e-05 0.0006 0.0038 0.0012 0 0 0.0143 0.0039 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0035 . rs72650683 rs72650683 rs72650683 1 1538 10 1/0 0,255,255 +rs79803820 (chr16:11537347 A/G) 16 11537347 A G Not on a known gene +rs773679663 16 11643256 G A - LITAF 16841 Lipopolysaccharide-induced TNF factor NM_001136472.1 -1 2471 486 NP_001129944.1 Q99732 substitution 3'UTR GRCh37 11643256 11643256 Chr16(GRCh37):g.11643256G>A *237 *237 NM_001136472.1:c.*237C>T p.? p.? 4 603795 346 3' 88.6065 13.532 0.993686 13.7573 88.6065 13.532 0.993686 13.7573 0 rs773679663 yes no Frequency 1 G 0.000000 0 0.000030 0.000000 0.000000 0.000000 0.000347 0.000000 0.000015 0.000000 0.000000 0.000347 5 0 0 0 4 0 1 0 0 165862 14994 24588 8358 11542 22554 68764 10378 4684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.47826087 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 69.0 . . . . . . . . . . 0.0323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000189067 LITAF LITAF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773679663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.224e-05 0 0 0.0003 0 0 0 0 0 6.455e-05 0 0 0.0006 0 6.662e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs373445989 16 11647456 C T - LITAF 16841 Lipopolysaccharide-induced TNF factor NM_001136472.1 -1 2471 486 NP_001129944.1 Q99732 substitution missense exon GRCh37 11647456 11647456 Chr16(GRCh37):g.11647456C>T 310 310 NM_001136472.1:c.310G>A p.Val104Met p.Val104Met 3 603795 -68 5' 83.6222 7.93332 0.979426 7.99866 83.6222 7.93332 0.979426 7.66996 0 LPS-induced tumor necrosis factor alpha factor rs373445989 yes no Frequency 1 C 0.000000 0 0.000040 0.000167 0.000029 0.000000 0.000000 0.000000 0.000040 0.000000 0.000155 0.000167 11 4 1 0 0 0 5 0 1 276984 24020 34416 10146 18870 30776 126524 25768 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 4 1 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4393 12993 0 1 1 0 0.000227583 7.69586e-05 0 0.000227583 7.69586e-05 76 transition G A G>A 0.984 0.851 V Val GTG 0.468 M Met ATG 1.000 104 12 10 Chicken 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 69.84 20.52 Deleterious 0.03 III.40 good 1.128E-2 0.01227 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.769 . @ . . . . . 1 0.906 . . 130.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . 0.0840 0.075 0.084 c . . . . . 2.368e-05 . . . 0 3.318e-05 0 0 0 7.144e-05 0 0 0 9.456e-06 0 0 0 1.843e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.885 . . exonic exonic exonic . . 0.379 @ . . . 0.35 0.47 182 ENSG00000189067 LITAF LITAF . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . 0.392 . . . . D 0.818 0.135 . . 37 . 0.895 . . 0.855 . . . 0.453 0.810 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.429 . . 0 0 0 0 0 0 . 0.899 . . 0.697 . . . . . . 0 0.682 . . . . . 0.168 . 0.481 . HET 0.01 rs373445989 . . . . . . . . . . . . V.63 . . V.39 3.IV . 0.250000 . . . . 0.000077 . 0.345 . . 3.IV 0.0002 4.065e-05 2.978e-05 0 0 0 4.484e-05 0.0002 0 0.0001 3.23e-05 0 0 0 0 0 0 . . 0.730 . 0.627 0.627000 . . 0.250000 . . 1.0E-255 0.995 0.385 . 0.653 0.992 . 0.491 . 0.490 0.627 0.871 0.0002 . . rs373445989 rs373445989 1 1538 10 1/0 0,240,255 +. 16 12021615 G C - NPIPB2 37451 Nuclear pore complex interacting protein family, member B2 NM_001355514.1 -1 1412 672 NP_001342443.1 substitution missense exon GRCh37 12021615 12021615 Chr16(GRCh37):g.12021615G>C 287 287 NM_001355514.1:c.287C>G p.Ser96Cys p.Ser96Cys 9 122 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 0.001734 0.002386 0.003252 0.000000 0.012256 0.001439 0.000244 0.000618 0.001096 0.012256 380 44 90 0 166 40 25 9 6 219170 18438 27678 9252 13544 27796 102436 14554 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 380 44 90 0 166 40 25 9 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -14.080 S Ser TCT 0.185 C Cys TGT 0.448 96 5 3 Western lowland gorilla -1 -1 -2 I.42 II.75 9.II 5.V 32 55 112 C0 353.86 0.00 Deleterious 0 IV.32 177 PASS . . . . . . . . . . . . . . . . 0.106529206 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.153 . @ . . . . . 3 0.100 . . 291.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3470 -0.507 -0.347 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.565 . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000234719 . . . dist\x3d11096\x3bdist\x3d37349 dist\x3d11096\x3bdist\x3d37349 0.000 0.012 . . . . . . . . . 0 . . . . . . D 0.674 0.058 . . 37 . 0.608 . . 0.736 . . . . . . . . . . . . . . . . . . . . 0.543 . . . . . . 0 . . . . . . . . . . . . . 0.395 . . . . . . . 0.137 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.021 . . . 0.0019 0.0017 0.0033 0 0.0126 0.0003 0.0002 0.0013 0.0014 0.0031 0.0019 0.0029 0 0.0087 0.0019 0.0006 0 . . 0.558 . . . . . 0.000000 . . 1.0E-177 0.291 0.250 . 0.248 . . 0.144 . 0.193 . . . . . . . 1 1538 10 1/0 0,181,255 +. 16 12023215 T C - NPIPB2 37451 Nuclear pore complex interacting protein family, member B2 NM_001355514.1 -1 1412 672 NP_001342443.1 substitution intron GRCh37 12023215 12023215 Chr16(GRCh37):g.12023215T>C 129+27 129+27 NM_001355514.1:c.129+27A>G p.? p.? 7 7 27 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.70519 0 0.000039 0.000000 0.000259 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000259 1 0 1 0 0 0 0 0 0 25754 2900 3856 644 3632 3568 10092 340 722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 59 Exomes transition A G A>G 0.154 0.044 204 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 159.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . 0.66 0.4 182 ENSG00000234719 . . . dist\x3d12696\x3bdist\x3d35749 dist\x3d12696\x3bdist\x3d35749 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.883e-05 0.0003 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs113663049 rs113663049 1 1538 10 1/0 0,212,255 +rs77940121 16 12297160 T C - SNX29 30542 Sorting nexin 29 NM_032167.4 1 8175 2442 NP_115543.3 Q8TEQ0 substitution intron GRCh37 12297160 12297160 Chr16(GRCh37):g.12297160T>C 1678+3620 1678+3620 NM_032167.4:c.1678+3620T>C p.? p.? 14 14 3620 5' 90.3122 9.15773 0.97306 VIII.33 90.3122 9.15773 0.97306 VIII.33 0 rs77940121 yes no Frequency 1 C 0.000000 0 0.004071 0.001177 0.006494 0.017241 0.004505 0.000000 0.005695 0.020362 0.000000 0.020362 33 5 1 1 2 0 15 9 0 8106 4248 154 58 444 0 2634 442 126 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 5 1 1 2 0 15 9 0 0 0 0 0 0 0 0 0 0 RF 186 Genomes transition T C T>C 0.205 -1.328 238 PASS . . . . . . . . . . . . . . . . 0.27645788 . . @ 128 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 463.0 . . INTRON(MODIFIER||||SNX29|mRNA|CODING|NM_032167|) . . . . . . . -0.7453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.27 182 ENSG00000048471 SNX29 SNX29 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77940121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0041 0.0065 0.0172 0.0045 0.0204 0.0057 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . rs77940121 rs77940121 1 1538 10 1/0 0,177,243 +rs76017374 16 12297195 G A - SNX29 30542 Sorting nexin 29 NM_032167.4 1 8175 2442 NP_115543.3 Q8TEQ0 substitution intron GRCh37 12297195 12297195 Chr16(GRCh37):g.12297195G>A 1678+3655 1678+3655 NM_032167.4:c.1678+3655G>A p.? p.? 14 14 3655 5' 90.3122 9.15773 0.97306 VIII.33 90.3122 9.15773 0.97306 VIII.33 0 rs76017374 no no 0 G 0.000000 0 0.007559 0.001799 0.042373 0.035714 0.003086 0.000000 0.013714 0.034759 0.019231 0.042373 54 8 5 1 1 0 24 13 2 7144 4446 118 28 324 0 1750 374 104 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 8 5 1 1 0 24 13 2 0 0 0 0 0 0 0 0 0 RF 263 Genomes transition G A G>A 0.000 -1.328 235 PASS . . . . . . . . . . . . . . . . 0.2552504 . . @ 158 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 619.0 . . INTRON(MODIFIER||||SNX29|mRNA|CODING|NM_032167|) . . . . . . . -0.7109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.3 182 ENSG00000048471 SNX29 SNX29 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76017374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0076 0.0424 0.0357 0.0031 0.0348 0.0137 0.0192 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs76017374 rs76017374 1 1538 10 1/0 0,161,217 +rs7188380 16 12297247 A G - SNX29 30542 Sorting nexin 29 NM_032167.4 1 8175 2442 NP_115543.3 Q8TEQ0 substitution intron GRCh37 12297247 12297247 Chr16(GRCh37):g.12297247A>G 1678+3707 1678+3707 NM_032167.4:c.1678+3707A>G p.? p.? 14 14 3707 5' 90.3122 9.15773 0.97306 VIII.33 90.3122 9.15773 0.97306 VIII.33 0 rs7188380 no no 0 A 0.000000 0 transition A G A>G 0.657 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.48595506 . . @ 346 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 712.0 . . INTRON(MODIFIER||||SNX29|mRNA|CODING|NM_032167|) . . . . . . . -0.8221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.32 182 ENSG00000048471 SNX29 SNX29 . . . . . . 30364 0.467311 64976 28256 0.471043 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7188380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62038338 rs7188380 rs7188380 rs7188380 1 1538 10 1/0 0,174,193 +rs113935526 16 14339497 T C - MKL2 29819 MKL/myocardin-like 2 NM_001308142.1 1 8815 3300 NP_001295071.1 substitution missense exon GRCh37 14339497 14339497 Chr16(GRCh37):g.14339497T>C 1192 1192 NM_001308142.1:c.1192T>C p.Ser398Pro p.Ser398Pro 11 609463 -21 5' 77.3061 V.33 0.33306 2.47099 77.3061 V.33 0.33306 2.73414 0 rs113935526 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.002300 0.000000 0.000000 0.002000 0.001400 0.004577 0.000625 0.005592 0.005366 0.000000 0.000331 0.006810 0.003377 0.006992 0.006810 1261 15 190 54 0 10 860 87 45 275486 23996 33976 10064 18792 30166 126290 25766 6436 0.000058 0.000000 0.000059 0.000000 0.000000 0.000000 0.000063 0.000155 0.000311 8 0 1 0 0 0 4 2 1 1245 15 188 54 0 10 852 83 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4391 12933 58 3 61 0.00674419 0.000682749 0.00469447 0.00674419 0.000682749 0.00469447 151 transition T C T>C 0.992 0.528 S Ser TCT 0.185 P Pro CCT 0.283 398 12 10 Frog -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 99.44 0.00 Tolerated 0.15 III.70 255 PASS 0.0041 0.0009 . . . 0.0023 0.0012 0.0014 . 0.002 . . . . . . 0.6122449 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.358 . @ . . . . . 1 0.581 . . 49.0 . . . 0.0007 0.0047 0.0067 0.0007 0.0047 0.0067 . -0.5372 -0.329 -0.537 c . . . . . 4.791e-03 . . . 0.0009 0.0043 0.0093 0 0.0021 0.0060 0.0056 0.0002 0.0008 0.0048 0.0095 0 0.0021 0.0069 0.0058 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.290 0.0012 . . . 0.38 0.25 182 ENSG00000186260 MKL2 MKL2 . . . 1.000 0.434 . 307 0.00472482 64976 301 0.00501784 59986 Benign . 0 . 0.559 . . . . T 0.211 0.008 . . 37 . 0.204 . . 0.038 . . . 0.235 0.504 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 0 0 . 0.147 . . 0.133 . . . . . . 0 0.323 . . . . . 0.336 . 0.250 . HET 0.08 rs113935526 . . . . . . . 9.157509157509158E-4 0.0040650406504065045 0.0 0.0 0.0 VIII.76 5.35E-4 . V.88 II.47 . 0.570000 . . . . 0.004694 . 0.500 . . II.47 0.0006 0.0047 0.0056 0.0052 0 0.0035 0.0070 0.0077 0.0003 0.0007 0.0033 0.0060 0.0099 0 0.0023 0.0052 0.0031 . . 0.310 . 0.483 0.483000 . . 0.570000 . . 1.0E-255 1.000 0.715 . 0.750 0.998 . 0.297 . 0.807 0.483 0.991 0.0067 . . rs113935526 rs113935526 1 1538 10 1/0 0,255,255 +rs201173374 16 14820094 A G - NPIPA3 41978 Nuclear pore complex interacting protein family, member A3 NM_001277323.1 1 1098 1053 NP_001264252.1 F8WFD2 substitution missense exon GRCh37 14820094 14820094 Chr16(GRCh37):g.14820094A>G 997 997 NM_001277323.1:c.997A>G p.Lys333Glu p.Lys333Glu 8 355 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 rs201173374 yes no Frequency 1 0.000000 0 0.006649 0.003132 0.022059 0.000000 0.000000 0.000000 0.025641 0.000000 0.000000 0.025641 10 3 3 0 0 0 4 0 0 1504 958 136 20 46 166 156 0 22 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 3 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -14.080 K Lys AAG 0.575 E Glu GAG 0.583 333 1 1 1 0.33 0.92 11.III 12.III 119 83 56 255 PASS . . . . . . . . . . . . LOC642778:uc002dcr.4:exon8:c.A997G:p.K333E . . . 0.42857143 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.034 . . 14.0 . . . . . . . . . . -0.4017 -0.449 -0.402 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . . @ . . . 0.39 0.31 182 ENSG00000224712 LOC642778 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.679 0.060 . . 37 . 0.174 . . 0.212 . . . 0.004 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.062 . HET 1 rs201173374 . . . . . . . . . . . . . . . . . . 0.000000 F8WFD2 . . . . . 0.007 . . . 0.0044 0.0082 0.0221 0 0 . 0.0270 0 0 0 0 . . 0 . 0 0 . . 0.428 . . . . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.090 . . 0.031 . 0.017 . . . rs1059222 rs1059222 rs1059222 rs1059222 1 1538 10 1/0 0,0,0 +. 16 14860401 G A - NPIPA2 41979 Nuclear pore complex interacting protein family, member A2 NM_001277324.1 1 1088 1053 NP_001264253.1 F8WFD2 substitution downstream GRCh37 14860401 14860401 Chr16(GRCh37):g.14860401G>A *1131 *1131 NM_001277324.1:c.*1131G>A p.? p.? 8 1542 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 Cryptic Donor Strongly Activated 14860398 0.006768 65.3785 4.19614 0.061518 69.7409 0.001719 0.002551 0.007937 0.021277 0.000000 0.000000 0.000885 0.000000 0.000000 0.021277 15 8 1 2 0 0 4 0 0 8724 3136 126 94 374 0 4520 266 208 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 8 1 2 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition G A G>A 0.000 -0.602 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . . . . . . . . . -0.3388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000255037 . . . dist\x3d1086\x3bdist\x3d55888 dist\x3d1086\x3bdist\x3d55888 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0017 0.0079 0.0213 0 0 0.0009 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201084206 16 15045628 T C - NPIPA1 7909 Nuclear pore complex interacting protein family member A1 NM_006985.3 1 1088 1053 NP_008916.2 Q9UND3 substitution missense exon GRCh37 15045628 15045628 Chr16(GRCh37):g.15045628T>C 799 799 NM_006985.3:c.799T>C p.Ser267Pro p.Ser267Pro 8 606406 157 3' 90.4337 XI.63 0.961149 7.07535 90.4337 XI.63 0.961149 7.07535 0 rs201084206 yes no Frequency 1 0.000000 0 0.000395 0.000564 0.000280 0.000104 0.000646 0.000365 0.000377 0.000209 0.001254 0.000646 90 12 8 1 8 9 42 3 7 227806 21266 28596 9622 12380 24654 111326 14382 5580 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 90 12 8 1 8 9 42 3 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.031 -1.651 S Ser TCC 0.220 P Pro CCC 0.328 267 4 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.35 IV.32 178 PASS . . . . . . . . . . . ENSG00000183426:ENST00000328085:exon8:c.T799C:p.S267P NPIP:uc002dcy.4:exon8:c.T799C:p.S267P NPIPA1:NM_006985:exon8:c.T799C:p.S267P . . 0.10843374 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.002 . . 166.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S267P|NPIPA1|mRNA|CODING|NM_006985|NM_006985.ex.8) . . . . . . . -2.1425 -2.150 -2.142 c . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.250 . . exonic exonic exonic . . . @ . . . 0.42 0.35 182 ENSG00000183426 NPIP NPIPA1 . . . 0.000 0.050 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.050 0.002 . . 37 . 0.043 . . 0.190 . . . 0.002 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.163 . LowAF 1 rs201084206 . . . . . . . . . . . . . . . . . . 1.000000 Q9UND3 . . . . . 0.002 . . . 7.33e-05 0.0002 0.0003 0.0001 0.0007 0 0.0002 0.0008 0.0004 0.0014 0.0017 0.0014 0 0 0.0011 0.0021 0.0039 . . 0.558 . -1.660 -1.660000 . . 1.000000 . . 1.0E-178 0.000 0.063 . 0.016 . . 0.030 . 0.019 -1.660 . . rs16953331 rs16953331 rs16953331 rs16953331 1 1538 10 1/0 0,205,255 +rs71232880 16 15069202 T C - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 substitution intron GRCh37 15069202 15069202 Chr16(GRCh37):g.15069202T>C 21+125 21+125 NM_015027.3:c.21+125T>C p.? p.? 1 1 614244 125 5' 79.0255 6.15955 0.731091 9.72577 79.0255 6.15955 0.731091 9.72577 0 rs71232880 no no 0 0.000000 0 0.001199 0.000955 0.004065 0.000000 0.002886 0.000000 0.000914 0.001813 0.001109 0.004065 35 8 3 0 4 0 13 6 1 29190 8374 738 264 1386 0 14216 3310 902 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 8 3 0 4 0 13 6 1 0 0 0 0 0 0 0 0 0 RF 71 Genomes transition T C T>C 0.000 -0.763 191 PASS . . . . . . . . . . . . . . . . 0.13812155 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 181.0 . . . . . . . . . . 0.8142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.22 182 ENSG00000179889 PDXDC1 PDXDC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs71232880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0012 0.0041 0 0.0029 0.0018 0.0009 0.0011 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . rs71232880 rs71232880 rs71232880 1 1538 10 1/0 0,204,255 +rs879123988 16 15198328 A T - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 substitution downstream GRCh37 15198328 15198328 Chr16(GRCh37):g.15198328A>T *68196 *68196 NM_015027.3:c.*68196A>T p.? p.? 23 614244 68456 3' 83.1473 10.421 0.977239 2.57789 83.1473 10.421 0.977239 2.57789 0 rs879123988 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 124538 16430 15022 3688 11170 14340 54280 6492 3116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.079 0.044 184 PASS . . . . . . . . . . . . . . . . 0.12096774 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.8005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188599 PDXDC1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000534799 . . . 0.030000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . 0.064 0.064000 . . 0.030000 . . 9.999999999999999E-185 . . . . . . . . . 0.064 . . . . . . 1 1538 10 1/0 0,219,255 +. 16 15198329 CTCG C - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 deletion downstream GRCh37 15198330 15198332 Chr16(GRCh37):g.15198330_15198332del *68198 *68200 NM_015027.3:c.*68198_*68200del p.? p.? 23 614244 68458 3' 83.1473 10.421 0.977239 2.57789 83.1473 10.421 0.977239 2.57789 0 rs879049345 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123332 10526 19704 4908 11228 17046 51586 5196 3138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 148 Exomes TCG 255 Pass . . . . . . . . . . . . . . . . 0.12096774 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . . . . . . . . ENSG00000188599 PDXDC1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,92 +. 16 15198400 C CG - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 duplication downstream GRCh37 15198402 15198403 Chr16(GRCh37):g.15198402dup *68270 *68270 NM_015027.3:c.*68270dup p.? p.? 23 614244 68530 3' 83.1473 10.421 0.977239 2.57789 83.1473 10.421 0.977239 2.57789 0 rs372111052 yes no Frequency 1 0.000000 0 0.000063 0.000096 0.000121 0.000214 0.000000 0.000000 0.000051 0.000000 0.000331 0.000214 16 2 4 2 0 0 6 0 2 252852 20852 33174 9358 17952 30060 118324 17096 6036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 4 2 0 0 6 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.10738255 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 149 . . . . . . . . . . . . . . . . . . . 7.510e-04 . . . 0.0001 0.0007 0.0005 0 0.0008 0.0012 0 0.0004 0.0001 0.0007 0.0005 0 0.0008 0.0010 0 0.0004 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . . . . . . . . ENSG00000188599 FLJ00285 PKD1P6 . uc002ddh.2:c.*228_*229insC . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs372111052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 7.153e-05 0.0001 0.0002 0 0 5.77e-05 0.0004 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,97 +rs62039524 16 15198524 T C - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 substitution downstream GRCh37 15198524 15198524 Chr16(GRCh37):g.15198524T>C *68392 *68392 NM_015027.3:c.*68392T>C p.? p.? 23 614244 68652 3' 83.1473 10.421 0.977239 2.57789 83.1473 10.421 0.977239 2.57789 0 rs62039524 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000008 1 0 0 0 0 0 1 0 0 262494 22820 34312 9994 18646 30740 123618 16064 6300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.047 0.125 174 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.10135135 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 148.0 . . . . . . . . . . -0.8017 . . . . . . . . 1.623e-05 . . . 0 1.192e-05 0 0 0 2.63e-05 0 0 0 9.868e-06 0 0 0 1.932e-05 0 0 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . 0.0004 . . . 0.24 0.19 182 ENSG00000188599 FLJ00285 PKD1P6 . uc002ddh.2:c.*105A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . rs62039524 . . . . . . . . . . . . . . ENST00000534799 0.131 0.131 . 0.830000 F8WBI2 . . . . . . . . . 0 4.316e-06 0 0 0 0 9.201e-06 0 0 0 0 0 0 0 0 0 0 . . . . 0.148 0.148000 . . 0.830000 . . 1.0E-174 . . . . . . . . . 0.148 . . rs62039524 rs62039524 rs62039524 rs62039524 1 1538 10 1/0 0,209,255 +. 16 15471939 C G - NPIPA5 41980 Nuclear pore complex interacting protein family member A5 NM_001277325.1 -1 1088 1053 NP_001264254.1 E9PKD4 substitution intron GRCh37 15471939 15471939 Chr16(GRCh37):g.15471939C>G 63+150 63+150 NM_001277325.1:c.63+150G>C p.? p.? 1 1 150 5' 71.4086 5.84705 0.275879 0 71.4086 5.84705 0.275879 0 0 0.000581 0.001627 0.000000 0.000000 0.000000 0.000000 0.000077 0.000589 0.000000 0.001627 16 13 0 0 0 0 1 2 0 27546 7988 782 224 1252 0 13036 3394 870 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 13 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transversion G C G>C 0.606 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . INTRON(MODIFIER||||NPIPA5|mRNA|CODING|NM_001277325|) . . . . . . . -0.0157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.13 182 ENSG00000183793 LOC100288332 NPIPA5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0006 0 0 0 0.0006 7.671e-05 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs62038527 rs62038527 rs62038527 rs62038527 1 1538 10 1/0 0,255,255 +rs144938295 16 15967469 C T - FOPNL 26435 FGFR1OP N-terminal like NM_001304499.1 -1 2382 597 NP_001291428.1 substitution synonymous exon GRCh37 15967469 15967469 Chr16(GRCh37):g.15967469C>T 399 399 NM_001304499.1:c.399G>A p.Gly133= p.Gly133Gly 5 617149 16 3' 81.2234 IX.41 0.778773 4.51596 81.2234 IX.41 0.856099 4.74332 0.0330974 rs144938295 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.002607 0.000208 0.000582 0.006116 0.000000 0.000000 0.004031 0.003996 0.003408 0.006116 721 5 20 62 0 0 509 103 22 276614 24020 34360 10138 18858 30742 126264 25776 6456 0.000043 0.000000 0.000000 0.000197 0.000000 0.000000 0.000063 0.000078 0.000000 6 0 0 1 0 0 4 1 0 709 5 20 60 0 0 501 101 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4393 12970 23 1 24 0.00267442 0.000227583 0.00184701 0.00267442 0.000227583 0.00184701 62 transition G A G>A 0.984 -0.279 G Gly GGG 0.250 G Gly GGA 0.246 133 255 PASS 0.002 0.0023 . . 0.01 . 0.0004 . . 0.002 . ENSG00000133393:ENST00000573087:exon3:c.G242A:p.G81E FOPNL:uc002dec.1:exon4:c.G327A:p.G109G . . . 0.6756757 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 37.0 . . . 0.0002 0.0018 0.0027 0.0002 0.0018 0.0027 . 0.7315 . . . . . . . . 2.628e-03 . . . 0.0003 0.0023 0.0009 0 0.0039 0.0043 0 0 0.0003 0.0022 0.0009 0 0.0045 0.0035 0 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.28 0.35 182 ENSG00000133393 FOPNL FOPNL . . . . . . 142 0.00218542 64976 140 0.00233388 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs144938295 . . . . . . . . . . . . . . . . . . . . . . . 0.001847 . . . . . 0.0003 0.0024 0.0005 0.0060 0 0.0041 0.0036 0.0031 0 0.0001 0.0043 0.0036 0.0099 0 0.0034 0.0072 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144938295 rs144938295 1 1538 10 1/0 0,255,255 +. 16 16219596 G GAA - ABCC1 51 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996.3 1 6564 4596 NP_004987.2 P33527 duplication intron GRCh37 16219603 16219604 Chr16(GRCh37):g.16219602_16219603dup 3718-65 3718-64 NM_004996.3:c.3718-65_3718-64dup p.? p.? 26 25 158343 -63 3' 88.2608 9.99871 0.951786 X.74 88.2608 9.99871 0.951786 X.41 0 rs113369901 yes no Frequency/1000G 2 0.222444 AA 1114 0.222444 0.042400 0.283200 0.390900 0.264400 0.174400 AA 255 Pass . . . . . 0.042 0.22 0.17 0.39 0.26 0.28 . . . . . 0.8245614 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 57 . . INTRON(MODIFIER||||ABCC1|mRNA|CODING|NM_004996|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000103222 ABCC1 ABCC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs113369901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113369901 rs113369901 1 1538 10 1.I 0,7,8 +rs397851 16 16360410 A T - NOMO3 25242 NODAL modulator 3 NM_001004067.3 1 4316 3669 NP_001004067.1 P69849 substitution intron GRCh37 16360410 16360410 Chr16(GRCh37):g.16360410A>T 1807-491 1807-491 NM_001004067.3:c.1807-491A>T p.? p.? 16 15 609159 -491 3' 82.7115 8.89958 0.805941 6.63151 82.7115 8.89958 0.805941 6.63151 0 Cryptic Acceptor Strongly Activated 16360420 6.03164 0.082619 83.4508 8.58753 0.486455 89.2986 rs397851 yes no Frequency 1 0.000000 0 0.000197 0.000611 0.000437 0.000000 0.000000 0.000077 0.000136 0.000000 0.000323 0.000611 20 5 7 0 0 1 6 0 1 101728 8178 16022 5450 6056 12922 44160 5848 3092 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 5 7 0 0 1 6 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.279 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||NOMO3|mRNA|CODING|NM_001004067|) . . . . . . . -0.3223 . . . . . . . . 1.347e-04 . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.17 182 ENSG00000103226 NOMO3 NOMO3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374519165 0.370 0.428 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0002 0.0005 0 0 0 0.0002 0.0004 7.739e-05 0.0004 9.682e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.37 rs397851 rs397851 rs397851 rs374519165 1 1538 255 1.I 0,0,255 +. 16 16388513 T C - NOMO3 25242 NODAL modulator 3 NM_001004067.3 1 4316 3669 NP_001004067.1 P69849 substitution 3'UTR GRCh37 16388513 16388513 Chr16(GRCh37):g.16388513T>C *357 *357 NM_001004067.3:c.*357T>C p.? p.? 31 609159 489 3' 83.3775 XI.86 0.981382 14.7859 83.3775 XI.86 0.981382 14.7859 0 transition T C T>C 0.000 -0.037 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.089 . @ . . . . . 2 0.040 . . 228.0 . . UTR_3_PRIME(MODIFIER||||NOMO3|mRNA|CODING|NM_001004067|NM_001004067.ex.31) . . . . . . . -1.4813 -1.523 -1.481 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.039 . . exonic exonic UTR3 . . 0.195 @ . . . 0.59 0.72 182 ENSG00000103226 NOMO3 NOMO3 . . NM_001004067:c.*357T>C 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.107 0.004 . . 37 . 0.020 . . 0.469 . . . . 0.090 . . . . . . . . . . . . . . . 0.063 . . . . . . 0 . . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.197 . 0.137 . LowAF 0 . . . . . . . . . . . . . VI.08 . . III.21 1.I . 1.000000 F5H826 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.269 -0.269000 . . 1.000000 . . 1.0E-176 0.000 0.063 . 0.043 0.015 . 0.062 . 0.126 -0.269 0.002 . rs1062375 rs1062375 rs1062375 rs1062375 1 1538 10 1/0 0,191,255 +. 16 16420869 G T - PKD1P1 30065 Polycystic kidney disease 1 (autosomal dominant) pseudogene 1 NR_036447.1 1 6295 0 substitution splice site GRCh37 16420869 16420869 Chr16(GRCh37):g.16420869G>T 3322+3 3322+3 NR_036447.1:n.3322+3G>T p.? p.? 16 16 3 5' 67.1376 6.45937 0.693227 XII.73 61.6243 0.0769731 0.278228 8.23719 -0.556283 transversion G T G>T 0.858 1.497 203 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.6073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000244257 PKD1P1 PKD1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.XI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 16 16422789 C T - PKD1P1 30065 Polycystic kidney disease 1 (autosomal dominant) pseudogene 1 NR_036447.1 1 6295 0 substitution intron GRCh37 16422789 16422789 Chr16(GRCh37):g.16422789C>T 3943-56 3943-56 NR_036447.1:n.3943-56C>T p.? p.? 19 18 -56 3' 87.6609 XII.77 0.994527 XI.12 87.6609 XII.77 0.994527 XI.81 0 16422792 -13.8503 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 202 14 14 0 2 0 28 134 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 463 Genomes transition C T C>T 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.4901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic downstream ncRNA_intronic . . . @ . . . . . . ENSG00000244257 PKD1P1 PKD1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71242399 rs71242399 rs71242399 1 1538 10 1/0 0,255,255 +. (chr16:16468939 C/T) 16 16468939 C T Not on a known gene +. 16 18412102 G A - NPIPA7 41982 Nuclear pore complex interacting protein family, member A7 NM_001282507.1 -1 1159 1110 NP_001269436.1 P0DM63 substitution missense exon GRCh37 18412102 18412102 Chr16(GRCh37):g.18412102G>A 833 833 NM_001282507.1:c.833C>T p.Ala278Val p.Ala278Val 8 191 3' 90.4337 XI.63 0.961149 7.07535 90.4337 XI.63 0.961149 7.07535 0 transition C T C>T 0.000 -14.080 A Ala GCG 0.107 V Val GTG 0.468 278 4 3 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 58.02 43.12 Tolerated 0.09 III.97 177 PASS . . . . . . . . . . . . . . . . 0.10747664 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.309 . @ . . . . . 1 0.138 . . 214.0 . . . . . . . . . . -0.4798 -0.638 -0.480 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.407 . . exonic exonic exonic . . . @ . . . . . . ENSG00000214940 NPIP . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.995 0.934 . . 37 . 0.366 . . 0.449 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 0.170 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.078 . . . . . . . 0.157 . LowAF 0.57 . . . . . . . . . . . . . . . . . . . 0.410000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . 0.410000 . . 1.0E-177 0.005 0.169 . 0.016 . . 0.164 . 0.247 . . . . . . . 1 1538 10 1/0 0,194,255 +. 16 18412102 G A - NPIPA8 41983 Nuclear pore complex interacting protein family member A8 NM_001282511.1 -1 1159 1110 NP_001269440.1 P0DM63 substitution missense exon GRCh37 18412102 18412102 Chr16(GRCh37):g.18412102G>A 833 833 NM_001282511.1:c.833C>T p.Ala278Val p.Ala278Val 8 191 3' 90.4337 XI.63 0.961149 7.07535 90.4337 XI.63 0.961149 7.07535 0 transition C T C>T 0.000 -14.080 A Ala GCG 0.107 V Val GTG 0.468 278 4 2 Chimp 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 177 PASS . . . . . . . . . . . . . . . . 0.10747664 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.309 . @ . . . . . 1 0.138 . . 214.0 . . . . . . . . . . -0.4798 -0.638 -0.480 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.407 . . exonic exonic exonic . . . @ . . . . . . ENSG00000214940 NPIP . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.995 0.934 . . 37 . 0.366 . . 0.449 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 0.170 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.078 . . . . . . . 0.157 . LowAF 0.57 . . . . . . . . . . . . . . . . . . . 0.410000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . 0.410000 . . 1.0E-177 0.005 0.169 . 0.016 . . 0.164 . 0.247 . . . . . . . 1 1538 10 1/0 0,194,255 +. 16 18430682 G A - NPIPA8 41983 Nuclear pore complex interacting protein family member A8 NM_001282511.1 -1 1159 1110 NP_001269440.1 P0DM63 substitution upstream GRCh37 18430682 18430682 Chr16(GRCh37):g.18430682G>A -4163 -4163 NM_001282511.1:c.-4163C>T p.? p.? 1 -4226 5' 71.4086 5.84705 0.275879 0 71.4086 5.84705 0.275879 0 0 transition C T C>T 0.000 0.528 186 PASS . . . . . . . . . . . . . . . . 0.12765957 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . . . . . . . . . -0.1650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . @ . . . . . . ENSG00000205746 . . . . dist\x3d4163\x3bdist\x3d5908 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 18431253 G A - NPIPA8 41983 Nuclear pore complex interacting protein family member A8 NM_001282511.1 -1 1159 1110 NP_001269440.1 P0DM63 substitution upstream GRCh37 18431253 18431253 Chr16(GRCh37):g.18431253G>A -4734 -4734 NM_001282511.1:c.-4734C>T p.? p.? 1 -4797 5' 71.4086 5.84705 0.275879 0 71.4086 5.84705 0.275879 0 0 0.000164 0.000000 0.000414 0.000000 0.000000 0.000000 0.000188 0.000000 0.000753 0.000414 7 0 3 0 0 0 3 0 1 42674 4138 7250 1070 6612 4900 15942 1434 1328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 3 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 0.044 189 PASS . . . . . . . . . . . . AK310228:uc010bvu.2:exon5:c.C999T:p.H333H . . . 0.13513513 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 37.0 . . . . . . . . . . 0.3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000205746 AK310228 . . . dist\x3d4734\x3bdist\x3d5337 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0004 0 0 0 0.0002 0.0009 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr16:18452255 G/A) 16 18452255 G A Not on a known gene +. (chr16:18471378 T/C) 16 18471378 T C Not on a known gene +. (chr16:18473294 G/A) 16 18473294 G A Not on a known gene +. (chr16:18473640 G/A) 16 18473640 G A Not on a known gene +. (chr16:18480131 G/T) 16 18480131 G T Not on a known gene +rs781679891 16 18532038 G A - NOMO2 22652 NODAL modulator 2 NM_001004060.1 -1 3922 3804 NP_001004060.1 Q5JPE7 substitution intron GRCh37 18532038 18532038 Chr16(GRCh37):g.18532038G>A 2274-37 2274-37 NM_001004060.1:c.2274-37C>T p.? p.? 20 19 609158 -37 3' 81.1951 6.18396 0.910346 1.15457 81.1951 6.18396 0.910346 1.19944 0 rs781679891 yes no Frequency 1 0.000000 0 0.001400 0.001024 0.000604 0.005145 0.000614 0.000507 0.001178 0.006311 0.000393 0.006311 126 14 9 11 6 4 38 43 1 89986 13668 14890 2138 9776 7892 32266 6814 2542 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 126 14 9 11 6 4 38 43 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 0.851 181 PASS . . . . . . . . . . . . . . . . 0.11494253 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . 0.2186 . . . . . . . . 7.735e-04 . . . 0.0021 0.0063 0.0067 0 0.0556 0.0087 0 0.0044 0 0.0043 0 0 0.0455 0.0141 0 0.0045 . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.41 182 ENSG00000185164 NOMO2 NOMO2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781679891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.18 0.0009 0.0015 0.0006 0.0052 0.0004 0.0110 0.0011 0.0006 0.0005 0.0011 0.0013 0.0014 0.0047 0.0022 0.0009 0.0013 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs3752413 rs3752413 rs3752413 rs3752413 1 1538 10 1/0 0,233,255 +rs115520782 16 19125800 C T - ITPRIPL2 27257 Inositol 1,4,5-triphosphate receptor interacting protein-like 2 NM_001034841.3 1 7699 1608 NP_001030013.1 Q3MIP1 substitution missense exon GRCh37 19125800 19125800 Chr16(GRCh37):g.19125800C>T 17 17 NM_001034841.3:c.17C>T p.Thr6Ile p.Thr6Ile 1 rs115520782 yes no Frequency/1000G 2 C 0.000000 0 0.002995 0.000000 0.000000 0.000000 0.010900 0.005800 0.003127 0.000840 0.003050 0.000000 0.000000 0.000000 0.005922 0.001834 0.003137 0.005922 284 12 34 0 0 0 210 20 8 90818 14294 11146 1564 8710 6184 35462 10908 2550 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 1 0 0 0 0 0 1 0 0 282 12 34 0 0 0 208 20 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7802 3978 11780 36 4 40 0.00459301 0.00100452 0.00338409 0.00459301 0.00100452 0.00338409 11 COSM1197033|COSM1197033 Lung|Large intestine 0.000419|0.000448 2388|2231 transition C T C>T 1.000 2.062 T Thr ACC 0.361 I Ile ATC 0.481 6 11 8 Dog -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0 IV.32 bad 1.145E-5 2.327E-5 255 PASS 0.0041 0.01 0.01 . 0.01 . 0.003 0.0058 . 0.011 . ENSG00000205730:ENST00000381440:exon1:c.C17T:p.T6I ITPRIPL2:uc002dfu.4:exon1:c.C17T:p.T6I ITPRIPL2:NM_001034841:exon1:c.C17T:p.T6I . . 0.43820226 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.682 . @ . . . . . 1 0.779 . . 89.0 . . . 0.001 0.0034 0.0046 0.001 0.0034 0.0046 . 0.1936 0.175 0.194 c . . . . . 1.038e-03 . . . 0.0019 0.0068 0.0278 0 0 0.0097 0 0 0.0021 0.0056 0.02 0 0 0.0086 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.358 0.0030 . . . 0.42 0.46 182 ENSG00000205730 ITPRIPL2 ITPRIPL2 . . . 1.000 0.747 . 331 0.00509419 64976 316 0.0052679 59986 Uncertain_significance . 0 . 0.452 . . . . . . . . . 37 . 0.126 . . 0.206 . . . 0.246 0.327 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.291 . . 0 0 0 0 0 0 . 0.609 . . 0.507 . . . . . . 1 0.632 . . . . . 0.496 . 0.299 . HET . rs115520782 . . . . . . . 0.005952380952380952 0.0040650406504065045 0.008287292817679558 0.0 0.010554089709762533 XI.82 9.05E-4 ENST00000381440 III.21 III.21 . 0.000000 Q3MIP1 . . . 0.003384 . 0.390 . . III.21 0.0005 0.0029 0.0032 0 0 0.0012 0.0060 0.0019 0 0.0010 0.0036 0.0012 0 0 0.0032 0.0058 0.0051 . . 0.319 . 1.812 1.812000 . . 0.000000 . . 1.0E-255 0.997 0.399 . 0.377 1.000 . 0.561 . 0.307 1.812 0.871 0.01 . . rs115520782 rs115520782 1 1538 10 1/0 0,255,255 +rs146958511 16 19883991 C T - GPRC5B 13308 G protein-coupled receptor, class C, group 5, member B NM_001304771.1 -1 3174 1605 NP_001291700.1 substitution synonymous exon GRCh37 19883991 19883991 Chr16(GRCh37):g.19883991C>T 570 570 NM_001304771.1:c.570G>A p.Val190= p.Val190Val 2 605948 178 3' 82.201 X.44 0.966619 9.20616 82.201 X.44 0.966619 9.20616 0 rs146958511 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.002455 0.000791 0.000959 0.000000 0.000000 0.000845 0.004226 0.001980 0.002476 0.004226 680 19 33 0 0 26 535 51 16 277040 24010 34416 10150 18864 30782 126602 25754 6462 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 678 19 33 0 0 26 533 51 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4387 12953 34 7 41 0.00395349 0.00159308 0.0031553 0.00395349 0.00159308 0.0031553 42 transition G A G>A 1.000 1.497 V Val GTG 0.468 V Val GTA 0.114 190 255 PASS . 0.0009 . . 0.0026 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.41584158 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . 0.0016 0.0032 0.004 0.0016 0.0032 0.004 . I.39 . . . . . . . . 2.825e-03 . . . 0.0009 0.0025 0.0008 0 0.0029 0.0042 0.0057 0.0009 0.0008 0.0027 0.0007 0 0.0018 0.0045 0.0044 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.4 0.31 182 ENSG00000167191 GPRC5B GPRC5B . . . . . . 211 0.00324735 64976 206 0.00343413 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146958511 . . . . . . . . . . . . . . . . . . . . . . . 0.003155 . . . . 5.VIII 0.0007 0.0025 0.0010 0 0 0.0020 0.0043 0.0026 0.0008 0.0010 0.0025 0.0012 0 0 0.0020 0.0038 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs146958511 rs146958511 1 1538 10 1/0 0,252,255 +rs62035041 16 20476995 G A - ACSM2A 32017 Acyl-CoA synthetase medium-chain family member 2A NM_001308172.1 1 2954 1734 NP_001295101.1 Q08AH3 substitution missense exon GRCh37 20476995 20476995 Chr16(GRCh37):g.20476995G>A 334 334 NM_001308172.1:c.334G>A p.Val112Met p.Val112Met 3 614358 -55 5' 80.0438 8.07704 0.704438 5.46416 80.0438 8.07704 0.704438 5.73754 0 Cryptic Acceptor Weakly Activated 20476993 I.21 0.002086 66.7317 1.95722 0.002723 66.7317 rs62035041 yes no Frequency 1 G 0.000000 0 0.002227 0.010222 0.000910 0.000304 0.000053 0.004679 0.001052 0.002192 0.002538 0.010222 598 227 31 3 1 136 130 54 16 268522 22206 34068 9862 18752 29064 123630 24636 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 598 227 31 3 1 136 130 54 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424760|COSM5424760|COSM5424760 Thyroid|Liver|Haematopoietic and lymphoid tissue 0.002677|0.000844|0.001133 747|2371|3530 transition G A G>A 0.953 0.367 V Val GTG 0.468 M Met ATG 1.000 112 12 10 Cow 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 247.90 III.24 Tolerated 0.06 III.39 249 PASS . . . . . . . . . . . . . . . . 0.3018868 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.482 . @ . . . . . 1 0.914 . . 159.0 . . . . . . . . . . -0.2667 -0.246 -0.267 c . . . . . 2.723e-03 . . . 0.0027 0.0027 0.0010 0.0002 0.0013 0.0008 0.0029 0.0098 0.0027 0.0022 0.0008 0.0001 0.0024 0.0005 0.0044 0.0098 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.402 . . exonic exonic exonic . . 0.228 @ . . . 0.48 0.43 182 ENSG00000183747 ACSM2A ACSM2A . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.245 . . . . T 0.111 0.004 . . 37 . 0.257 . . 0.301 . . . 0.134 0.351 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.486 . . 0 0 0 0 0 0 . 0.532 . . 0.520 . . . . . . 0 0.141 . . . . . 0.090 . 0.295 . HET 0.16 rs62035041 . . . . . . . . . . . . III.68 . . III.76 I.63 . 0.730000 . . . . . . 0.252 . . . 0.0069 0.0017 0.0009 0.0003 0 0.0009 0.0009 0.0030 0.0047 0.0163 0.0068 0.0012 0 0.0006 0.0102 0.0025 0 . . 0.133 . 0.661 0.661000 . . 0.730000 . . 1.0E-249 0.362 0.256 . 0.422 0.856 . 0.228 . 0.413 0.661 0.069 . rs62035041 rs62035041 rs62035041 rs62035041 1 1538 10 1/0 0,226,255 +rs139236064 16 20557791 T C - ACSM2B 30931 Acyl-CoA synthetase medium-chain family member 2B NM_182617.3 -1 2444 1734 NP_872423.3 Q68CK6 substitution synonymous exon GRCh37 20557791 20557791 Chr16(GRCh37):g.20557791T>C 1104 1104 NM_182617.3:c.1104A>G p.Leu368= p.Leu368Leu 10 614359 6 3' 90.0793 XII.79 0.986027 12.1046 90.0793 XII.79 0.9865 XII.17 0.000159901 AMP-dependent synthetase/ligase rs139236064 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.009100 0.000000 0.000000 0.000000 0.001400 0.000999 0.007476 0.000456 0.000140 0.000908 0.000584 0.000175 0.000000 0.000724 0.007476 242 175 13 1 16 13 20 0 4 242314 23408 28500 7118 17628 22262 114056 23814 5528 0.000008 0.000085 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 240 173 13 1 16 13 20 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5428275 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -2.054 L Leu TTA 0.073 L Leu TTG 0.127 368 202 PASS 0.12 0.07 0.03 0.08 0.05 0.0091 0.0026 0.0014 . . . . . . . . 0.16438356 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.5781 . . . . . . . . 9.794e-04 . . . 0.0083 0.0013 0.0005 0.0005 0 0.0002 0.0016 0.0004 0.0079 0.0010 0.0005 0.0011 0 0.0002 0.0016 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.21 0.2 182 ENSG00000066813 ACSM2B ACSM2B . . . . . . 18 0.000277025 64976 10 0.000166706 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139236064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0069 0.0008 0.0004 0.0001 0.0009 0 0.0002 0.0007 0.0006 0.0085 0.0026 0.0012 0 0.0012 0 6.666e-05 0.0010 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . 0.12 . . rs79385757 rs139236064 1 1538 10 1/0 0,245,255 +. (chr16:20618412 T/TC) 16 20618412 T TC Not on a known gene +. (chr16:21415540 C/A) 16 21415540 C A No Alamut gene - other known genes: NPIPL3 NPIPL3 +. (chr16:21426391 C/A) 16 21426391 C A No Alamut gene - other known genes: NPIPL3 NPIPL3 +. 16 21666577 A G - METTL9 24586 Methyltransferase like 9 NM_016025.4 1 3256 957 NP_057109.3 Q9H1A3 substitution missense exon GRCh37 21666577 21666577 Chr16(GRCh37):g.21666577A>G 781 781 NM_016025.4:c.781A>G p.Ile261Val p.Ile261Val 5 609388 30 3' 76.8566 3.18171 0.384028 2.32615 76.8566 3.18171 0.384028 2.48537 0 DREV methyltransferase transition A G A>G 1.000 1.900 I Ile ATT 0.356 V Val GTT 0.178 261 12 5 Dog 3 3 4 0 0 5.II 5.IX 111 84 29 C0 263.90 0.00 Tolerated 0.52 III.29 255 PASS . . . . . . . . . . . . . . . . 0.39473686 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.174 . . 38.0 . . . . . . . . . . -0.4011 -0.115 -0.401 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000197006 METTL9 METTL9 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.486 . . . . T 0.006 0.001 . . 37 . 0.120 . . 0.201 . . . 0.009 0.277 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.036 . . . . . 0.176 . 0.202 . HET 0.92 . . . . . . . . . . . . . V.37 . . 6.VII IV.92 . 0.570000 . . . . . . 0.407 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.924 . 2.330 2.330000 . . 0.570000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.326 . 0.960 2.330 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs200565691 (chr16:21906878 G/A) 16 21906878 G A Not on a known gene +. (chr16:21916222 G/A) 16 21916222 G A Not on a known gene +rs145806753 16 22149688 T C - VWA3A 27088 Von Willebrand factor A domain containing 3A NM_173615.4 1 4604 3555 NP_775886.3 A6NCI4 substitution missense exon GRCh37 22149688 22149688 Chr16(GRCh37):g.22149688T>C 2147 2147 NM_173615.4:c.2147T>C p.Phe716Ser p.Phe716Ser 22 8 3' 74.539 6.83331 0.119925 6.66909 74.539 6.83331 0.179721 6.83225 0.166204 rs145806753 yes no Frequency/1000G 2 T 0.000000 0 0.002995 0.000800 0.002000 0.000000 0.008900 0.004300 0.007340 0.002978 0.007938 0.003439 0.000000 0.002507 0.011254 0.004348 0.009224 0.011254 1758 62 237 32 0 67 1203 103 54 239496 20820 29858 9304 16346 26728 106896 23690 5854 0.000125 0.000000 0.000134 0.000000 0.000000 0.000000 0.000206 0.000084 0.000342 15 0 2 0 0 0 11 1 1 1728 62 233 32 0 67 1181 101 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8256 4012 12268 96 8 104 0.0114943 0.00199005 0.00840608 0.0114943 0.00199005 0.00840608 33 transition T C T>C 0.717 1.577 F Phe TTC 0.546 S Ser TCC 0.220 716 12 7 Chicken -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 169.72 34.34 Tolerated 0.21 III.35 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.003 0.0043 . 0.0089 0.002 . . VWA3A:NM_173615:exon22:c.T2147C:p.F716S . . 0.5744681 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.550 . @ . . . . . 1 0.657 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F716S|VWA3A|mRNA|CODING|NM_173615|NM_173615.ex.22) 0.002 0.0084 0.011 0.002 0.0084 0.011 . -0.0267 0.099 -0.027 c . . . . . 6.031e-03 . . . 0.0029 0.0134 0.0184 0 0.0141 0.0220 0.0074 0.0042 0.0020 0.0132 0.0205 0 0.0088 0.0216 0.0125 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.437 . . exonic exonic exonic . . 0.488 0.0030 . . . 0.59 0.56 182 ENSG00000175267 VWA3A VWA3A . . . 0.000 0.072 . 774 0.0119121 64976 760 0.0126696 59986 Uncertain_significance . 0 . 0.052 . . . . . . . . . 37 . 0.110 . . 0.136 . . . 0.339 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.711 . . 0 0 0 0 0 0 . 0.297 . . 0.275 . . . . . . 0 0.654 . . . . . 0.344 . 0.524 . HET 0.01 rs145806753 . . . . . . . 0.004120879120879121 0.0 0.011049723756906077 0.0 0.006596306068601583 VIII.05 0.002087 . V.31 IV.21 . 0.120000 . . . . 0.008406 . 0.340 . . IV.21 0.0032 0.0074 0.0078 0.0036 0 0.0045 0.0113 0.0096 0.0025 0.0026 0.0072 0.0132 0 0 0.0034 0.0112 0.0072 . . 0.185 . 2.139 2.139000 . . 0.120000 . . 1.0E-255 0.952 0.329 . 0.394 0.988 . 0.519 . 0.807 2.139 0.991 0.011 . . rs145806753 rs145806753 1 1538 10 1/0 0,255,255 +rs62047207 (chr16:22198157 T/C) 16 22198157 T C Not on a known gene +. 16 22543704 G A - NPIPB5 37233 Nuclear pore complex interacting protein family, member B5 NM_001135865.1 1 3817 3402 NP_001129337.1 A8MRT5 substitution intron GRCh37 22543704 22543704 Chr16(GRCh37):g.22543704G>A 642+118 642+118 NM_001135865.1:c.642+118G>A p.? p.? 6 6 118 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.000 -0.117 184 PASS . . . . . . . . . . . . . . . . 0.121212125 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.105 . @ . . . . . 2 0.108 . . 165.0 . . INTRON(MODIFIER||||NPIPB5|mRNA|CODING|NM_001135865|) . . . . . . . -0.3259 -0.218 -0.326 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . 0.099 @ . . . 0.47 0.27 182 ENSG00000243716 LOC100132247 NPIPB5 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 9.999999999999999E-185 0.066 0.217 . 0.145 . . 0.329 . 0.269 . . . rs256387 rs256387 rs256387 rs256387 1 1538 10 1/0 0,206,255 +rs45624036 16 23635370 C T - PALB2 26144 Partner and localizer of BRCA2 NM_024675.3 -1 4058 3561 NP_078951.2 Q86YC2 substitution missense exon GRCh37 23635370 23635370 Chr16(GRCh37):g.23635370C>T 2794 2794 NM_024675.3:c.2794G>A p.Val932Met p.Val932Met 8 610355 -41 5' 89.8263 9.80181 0.997418 5.05995 89.8263 9.80181 0.997418 4.82968 0 Cryptic Donor Strongly Activated 23635369 1.29679 0.008635 63.8882 2.60254 0.168158 72.849 WD40-repeat-containing domain rs45624036 yes no Frequency/1000G 2 C benign 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.005208 0.001295 0.001832 0.004245 0.000000 0.001041 0.006440 0.016599 0.004650 0.016599 1441 31 63 43 0 32 814 428 30 276692 23944 34386 10130 18852 30744 126400 25784 6452 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000155 0.000000 4 0 0 0 0 0 2 2 0 1433 31 63 43 0 32 810 424 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4389 12938 51 5 56 0.00593023 0.00113792 0.00430968 0.00593023 0.00113792 0.00430968 104 RCV000114559.10|RCV000121760.4|RCV000514905.1|RCV000116090.7|RCV000114560.1 germline|germline|germline|germline|germline|germline|germline|germline|germline|germline|germline|germline|germline literature only|clinical testing|clinical testing|case-control|reference population|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|literature only Conflicting interpretations of pathogenicity|Benign|Likely benign|Conflicting interpretations of pathogenicity|Benign 1|2|1|1|0 Familial cancer of breast|not specified|not provided|Hereditary cancer-predisposing syndrome|Pancreatic cancer 3 CM112100 Breast cancer 21409391 DM? transition G A G>A 1.000 1.981 V Val GTG 0.468 M Met ATG 1.000 932 12 8 Chicken 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 30.92 0.00 Tolerated 0.22 II.82 bad 8.462E-4 0.001111 255 PASS . 0.0009 . . 0.0026 . 0.001 . . 0.005 . ENSG00000083093:ENST00000261584:exon8:c.G2794A:p.V932M PALB2:uc002dlx.1:exon8:c.G2794A:p.V932M PALB2:NM_024675:exon8:c.G2794A:p.V932M . . 0.45901638 . . germline 28 . . 1.2.2016 0 1 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.765 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign other|Benign|other|Benign RCV000114559.9|RCV000114560.1|RCV000116090.6|RCV000121760.2 Familial_cancer_of_breast|Pancreatic_cancer_3|Hereditary_cancer-predisposing_syndrome|not_specified MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:SNOMED_CT|MedGen C0346153:114480:ORPHA227535:254843006|C3150547:613348|C0027672:699346009|CN169374 1 0.918 . . 61.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V932M|PALB2|mRNA|CODING|NM_024675|NM_024675.ex.8) 0.0011 0.0043 0.0059 0.0011 0.0043 0.0059 . 0.4825 0.478 0.483 c . . . . . 5.904e-03 . . . 0.0013 0.0041 0.0020 0 0.0175 0.0056 0.0101 0.0012 0.0015 0.0061 0.0019 0 0.0183 0.0087 0.0073 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.622 0.0010 . . . 0.68 0.48 182 ENSG00000083093 PALB2 PALB2 . . . 0.218 0.183 . 332 0.00510958 64976 327 0.00545127 59986 Likely_benign . 0 . 0.421 . . . . . . . . . 37 . 0.367 . . 0.520 . . . 0.735 0.336 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.433 . . 0 0 0 0 1 0 . 0.899 . . 0.797 . . . . . . 0 0.315 . . . . . 0.408 . 0.566 . HET 0.14 rs45624036 . . . CLINSIG\x3dother|non-pathogenic|other|untested\x3bCLNDBN\x3dFamilial_cancer_of_breast|Pancreatic_cancer_3|Neoplastic_Syndromes\x2c_Hereditary|not_specified\x3bCLNREVSTAT\x3dmult|single|mult|not\x3bCLNACC\x3dRCV000114559.3|RCV000114560.1|RCV000116090.2|RCV000121760.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen|.\x3bCLNDSDBID\x3dNBK1247:C0346153:114480:254843006|C3150547:613348:ORPHA1333|C0027672|. CLINSIG\x3dnon-pathogenic|non-pathogenic|other|untested\x3bCLNDBN\x3dFamilial_cancer_of_breast|Pancreatic_cancer_3|Hereditary_cancer-predisposing_syndrome|not_specified\x3bCLNREVSTAT\x3dmult|single|mult|not\x3bCLNACC\x3dRCV000114559.4|RCV000114560.1|RCV000116090.4|RCV000121760.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1247:C0346153:114480:254843006|C3150547:613348:ORPHA1333|C0027672:699346009|CN169374 CLINSIG\x3dnon-pathogenic|non-pathogenic|untested\x3bCLNDBN\x3dFamilial_cancer_of_breast|Pancreatic_cancer_3|not_specified\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_provided\x3bCLNACC\x3dRCV000114559.5|RCV000114560.1|RCV000121760.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen\x3bCLNDSDBID\x3dNBK1247:C0346153:114480:254843006|C3150547:613348:ORPHA1333|CN169374 . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IX.58 0.00107 ENST00000261584 V.81 IV.85 . 0.290000 Q86YC2 . . . 0.004310 . 0.409 . . IV.85 0.0014 0.0052 0.0018 0.0042 0 0.0169 0.0066 0.0044 0.0010 0.0011 0.0049 0.0012 0.0066 0 0.0149 0.0055 0.0061 . . 0.924 . 1.445 1.445000 . . 0.290000 . . 1.0E-255 0.967 0.338 . 0.419 0.943 . 0.432 . 0.150 1.445 0.008 0.0059 rs45624036 rs45624036 rs45624036 . 1 1538 10 1/0 0,255,255 +rs26761 16 23712661 C T - ERN2 16942 Endoplasmic reticulum to nucleus signaling 2 NM_033266.3 -1 3621 2781 NP_150296.4 Q76MJ5 substitution intron GRCh37 23712661 23712661 Chr16(GRCh37):g.23712661C>T 1204-226 1204-226 NM_033266.3:c.1204-226G>A p.? p.? 12 11 604034 -226 3' 81.8167 4.22966 0.091468 0 81.8167 4.22966 0.091468 0 0 rs26761 yes no Frequency/1000G 2 T 0.000000 0 0.996006 1.000000 0.979600 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 0.998982 1.000000 30977 8730 838 302 1622 0 15010 3494 981 30978 8730 838 302 1622 0 15010 3494 982 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.499490 15488 4365 419 151 811 0 7505 1747 490 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -2.216 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 0.98 . . . . . 1.0 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.5934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.23 0.34 182 ENSG00000134398 ERN2 ERN2 . . . . . . 64957 0.999708 64976 59985 0.999983 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs26761 0.978 0.986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1 0.9990 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs26761 rs26761 rs26761 rs26761 1 1538 255 1.I 0,0,255 +rs149360617 16 24800822 A G - TNRC6A 11969 Trinucleotide repeat containing 6A NM_014494.3 1 8480 5889 NP_055309.2 Q8NDV7 substitution missense exon GRCh37 24800822 24800822 Chr16(GRCh37):g.24800822A>G 859 859 NM_014494.3:c.859A>G p.Thr287Ala p.Thr287Ala 6 610739 270 3' 78.9924 VII.39 0.973261 VIII.72 78.9924 VII.39 0.973261 VIII.72 0 Cryptic Acceptor Strongly Activated 24800821 0.94651 0.000337 60.788 1.47778 0.000592 60.788 rs149360617 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000577 0.000125 0.000494 0.000000 0.000000 0.000130 0.001018 0.000155 0.000464 0.001018 160 3 17 0 0 4 129 4 3 277194 24030 34420 10146 18870 30782 126688 25792 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 160 3 17 0 0 4 129 4 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4394 12988 6 0 6 0.000697674 0 0.000461752 0.000697674 0 0.000461752 90 transition A G A>G 0.992 0.286 T Thr ACT 0.243 A Ala GCT 0.263 287 12 7 Dog 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.29 IV.32 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . . TNRC6A:NM_014494:exon6:c.A859G:p.T287A . . 0.4945055 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.240 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T287A|TNRC6A|mRNA|CODING|NM_014494|NM_014494.ex.6) . 0.0005 0.0007 . 0.0005 0.0007 . -0.4771 -0.305 -0.477 c . . . . . 4.972e-04 . . . 9.664e-05 0.0005 0.0005 0 0 0.0008 0 0.0002 0 0.0005 0.0005 0 0 0.0007 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.203 0.0004 . . . 0.68 0.65 182 ENSG00000090905 TNRC6A TNRC6A . . . 0.936 0.272 . 21 0.000323196 64976 19 0.000316741 59986 Uncertain_significance . 0 . 0.178 . . . . T 0.058 0.003 . . 37 . 0.073 . . 0.278 . . . 0.145 0.222 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.293 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.518 . . . . . 0.172 . 0.081 . HET 0.07 rs149360617 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 V.39 0.0 . V.94 I.23 . 0.160000 . . . . 0.000462 . 0.404 . . . 0.0001 0.0006 0.0005 0 0 8.969e-05 0.0010 0.0005 0.0001 0.0001 0.0008 0 0 0 0.0006 0.0014 0 . . 0.730 . 0.144 0.144000 . . 0.160000 . . 1.0E-255 0.998 0.411 . 0.888 0.999 . 0.244 . 0.960 0.144 1.062 0.0026 . . rs149360617 rs149360617 1 1538 10 1/0 0,255,255 +. 16 28355630 A G - NPIPB6 37454 Nuclear pore complex interacting protein family, member B6 NM_001282524.1 -1 1406 1278 NP_001269453.1 E9PJ23 substitution intron GRCh37 28355630 28355630 Chr16(GRCh37):g.28355630A>G 696+239 696+239 NM_001282524.1:c.696+239T>C p.? p.? 6 6 239 5' 86.9112 X.85 0.995579 2.09861 86.9112 X.85 0.995579 2.09861 0 Cryptic Acceptor Weakly Activated 28355627 I.99 0.021557 71.5337 3.05369 0.012781 77.7104 transition T C T>C 0.122 0.125 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||NPIPB6|mRNA|CODING|NM_001282524|) . . . . . . . -0.3442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198156 NPIPL1 NPIPB6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs40830 rs40830 rs40830 rs40830 1 1538 10 1/0 0,255,255 +. 16 28360209 G A - NPIPB6 37454 Nuclear pore complex interacting protein family, member B6 NM_001282524.1 -1 1406 1278 NP_001269453.1 E9PJ23 substitution missense exon GRCh37 28360209 28360209 Chr16(GRCh37):g.28360209G>A 545 545 NM_001282524.1:c.545C>T p.Thr182Met p.Thr182Met 4 -55 5' 73.3142 5.95993 0.744538 0 73.3142 5.95993 0.744538 0 0 0.003182 0.000000 0.005330 0.000000 0.000000 0.004005 0.003205 0.000000 0.000000 0.005330 13 0 5 0 0 6 2 0 0 4086 288 938 24 404 1498 624 178 132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 5 0 0 6 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.020 0.125 T Thr ACG 0.116 M Met ATG 1.000 182 6 3 Macaque -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0.03 IV.32 182 PASS . . . . . . . . . . . . . NPIPB6:NM_001282524:exon4:c.C545T:p.T182M . . 0.11643836 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.440 . @ . . . . . 1 0.636 . . 146.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T182M|NPIPB6|mRNA|CODING|NM_001282524|NM_001282524.ex.4) . . . . . . . -0.5268 -0.876 -0.527 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.577 . . exonic exonic exonic . . . @ . . . . . . ENSG00000198156 NPIPL1 NPIPB6 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.093 0.004 . . 37 . 0.634 . . 0.513 . . . 0.440 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.635 . . 0 0 0 0 0 0 . 0.899 . . 0.742 . . . . . . 0 0.371 . . . . . . . 0.207 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.040000 . . . . . . 0.006 . . . 0 0.0039 0.0055 0 0 0 0.0056 0 0.0040 0 0 0 0 0 0 0 0 . . 0.558 . 0.159 0.159000 . . 0.040000 . . 1.0E-182 0.000 0.063 . 0.043 0.006 . 0.014 . 0.011 0.159 -1.242 . . . . . 1 1538 10 1/0 0,211,255 +. 16 28368589 G T - NPIPB6 37454 Nuclear pore complex interacting protein family, member B6 NM_001282524.1 -1 1406 1278 NP_001269453.1 E9PJ23 substitution intron GRCh37 28368589 28368589 Chr16(GRCh37):g.28368589G>T 121-4207 121-4207 NM_001282524.1:c.121-4207C>A p.? p.? 2 1 -4207 3' 93.468 7.11356 0.860184 6.74895 93.468 7.11356 0.860184 6.74895 0 transversion C A C>A 0.587 0.125 176 PASS . . . . . . . . . . . . . . . . 0.10638298 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||NPIPB6|mRNA|CODING|NM_001282524|) . . . . . . . -0.0428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000198156 NPIPL1 NPIPB6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2106634 rs2106634 rs2106634 rs2106634 1 1538 10 1/0 0,255,255 +. 16 28391771 C T - EIF3CL 26347 Eukaryotic translation initiation factor 3 subunit C-like NM_001099661.2 -1 3095 2745 NP_001093131.1 B5ME19 substitution intron GRCh37 28391771 28391771 Chr16(GRCh37):g.28391771C>T 2411+18 2411+18 NM_001099661.2:c.2411+18G>A p.? p.? 18 18 18 5' 84.1408 9.87848 0.942715 X.96 84.1408 9.87848 0.942715 X.95 0 transition G A G>A 0.000 -0.037 214 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . 0.1999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000205609 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,201,255 +. 16 28468267 G GT - NPIPL1 33832 Nuclear pore complex interacting protein-like 1 ENST00000452313.1 -1 1406 1245 ENSP00000405348 duplication frameshift exon GRCh37 28468267 28468268 Chr16(GRCh37):g.28468268dup 722 722 ENST00000452313.1:c.722dup p.Asn241Lysfs*18 p.Asn241Lysfs*18 7 80 3' 90.4337 XI.63 0.960909 6.91559 90.4337 XI.63 0.960909 6.91559 0 rs530867152 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000981 0.000982 0.000503 0.000446 0.000000 0.000000 0.001747 0.000384 0.000914 0.001747 176 15 11 3 0 0 139 4 4 179378 15278 21878 6732 15966 25196 79544 10408 4376 0.000468 0.000524 0.000366 0.000297 0.000000 0.000000 0.000830 0.000000 0.000000 42 4 4 1 0 0 33 0 0 92 7 3 1 0 0 73 4 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes A 255 Pass . . . . . . 0.0006 0.0014 . 0.002 . ENSG00000233232:ENST00000452313:exon7:c.722dupA:p.N241fs NPIPL1:uc010vct.2:exon8:c.767dupA:p.N256fs . . . 0.3469388 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 147 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . 3.521e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 frameshift_insertion frameshift_insertion . . . . exonic exonic intergenic . . . . . . . . . . ENSG00000233232 NPIPL1 . . . dist\x3d30492\x3bdist\x3d9707 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . rs530867152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0007 0.0005 0.0005 0 0 0.0013 0.0003 0 0.0006 0.0027 0 0 0 0.0015 0.0047 0.0043 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 16 28474049 G A - NPIPL1 33832 Nuclear pore complex interacting protein-like 1 ENST00000452313.1 -1 1406 1245 ENSP00000405348 substitution missense exon GRCh37 28474049 28474049 Chr16(GRCh37):g.28474049G>A 491 491 ENST00000452313.1:c.491C>T p.Thr164Met p.Thr164Met 4 -55 5' 73.3142 5.95993 0.744538 0 73.3142 5.95993 0.744538 0 0 0.001341 0.062500 0.001116 0.000000 0.000000 0.000698 0.005747 0.000000 0.000000 0.062500 5 1 2 0 0 1 1 0 0 3728 16 1792 6 112 1432 174 4 192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 107 Exomes transition C T C>T 0.083 0.044 T Thr ACG 0.116 M Met ATG 1.000 164 5 3 Gorilla -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C15 37.56 63.95 Tolerated 0.06 III.72 bad 5.479E-4 0.0003844 175 PASS . . . . . . . . . . . ENSG00000233232:ENST00000452313:exon4:c.C491T:p.T164M . . . . 0.102564104 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.227 . @ . . . . . 3 0.582 . . 156.0 . . DOWNSTREAM(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|) . . . . . . . -0.3020 -0.578 -0.302 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.577 . . exonic exonic intergenic . . . @ . . . . . . ENSG00000233232 NPIPL1 . . . dist\x3d36274\x3bdist\x3d3925 0.000 0.035 . . . . . . . . . 0 . . . . . . T 0.183 0.007 . . 37 . 0.632 . . 0.515 . . . . 0.090 . . . . . . . . . . . . . . . 0.634 . . . . . . 0 . . 0.899 . . 0.742 . . . . . . 0 0.375 . . . . . . . 0.231 . LowAF 0 . . . . . . . . . . . . . . . ENST00000452313 . . . 0.040000 E7ERT9 . . . . . 0.077 . . . 0.0625 0.0013 0.0011 0 0 0 0.0057 0 0.0007 . . . . . . . . . . 0.558 . 0.064 0.064000 . . 0.040000 . . 1.0E-175 0.579 0.273 . 0.183 0.087 . 0.049 . 0.166 0.064 0.060 . . . . . 1 1538 10 1/0 0,207,255 +. 16 28478174 A G - CLN3 2074 Ceroid-lipofuscinosis, neuronal 3 NM_000086.2 -1 1877 1317 NP_000077.1 Q13286 substitution downstream GRCh37 28478174 28478174 Chr16(GRCh37):g.28478174A>G *10663 *10663 NM_000086.2:c.*10663T>C p.? p.? 15 607042 10783 3' 81.9561 X.45 0.979028 13.506 81.9561 X.45 0.979028 13.506 0 Cryptic Acceptor Weakly Activated 28478171 3.75898 0.08352 77.3183 III.92 0.072022 83.495 0.000202 0.000287 0.000000 0.000000 0.001229 0.000000 0.000000 0.000000 0.000000 0.001229 2 1 0 0 1 0 0 0 0 9894 3486 272 114 814 50 4402 472 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -2.135 199 PASS . . . . . . . . . . . ENSG00000233232:ENST00000452313:exon2:c.T116C:p.V39A NPIPL1:uc010vct.2:exon3:c.T161C:p.V54A . . . 0.1590909 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.005 . @ . . . . . 2 0.008 . . 44.0 . . UTR_3_PRIME(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|NM_001286109.ex.14) . . . . . . . -1.7350 -1.833 -1.735 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.460 . . exonic exonic UTR3 . . . @ . . . . . . ENSG00000233232 NPIPL1 CLN3 . . NM_001286109:c.*102T>C 0.001 0.076 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . 0.191 . . 0.168 . . . . 0.090 . . . . . . . . . . . . . . . 0.023 . . . . . . 0 . . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.226 . HET 1 . . . . . . . . . . . . . . . ENST00000452313 . . . 0.360000 E7ERT9 . . . . . 0.019 . . . 0 0.0025 0 0 0.0139 0 0 0 0 0.0003 0.0001 0 0 0 0 0 0 . . 0.428 . -2.179 -2.179000 . . 0.360000 . . 1.0E-199 0.324 0.253 . 0.157 0.052 . 0.035 . 0.005 -2.179 -2.431 . rs1064931 rs1064931 rs1064931 rs1064931 1 1538 10 1/0 0,255,255 +. 16 28478174 A G - NPIPL1 33832 Nuclear pore complex interacting protein-like 1 ENST00000452313.1 -1 1406 1245 ENSP00000405348 substitution missense exon GRCh37 28478174 28478174 Chr16(GRCh37):g.28478174A>G 116 116 ENST00000452313.1:c.116T>C p.Val39Ala p.Val39Ala 2 50 3' 93.468 7.11356 0.860184 6.74895 93.468 7.11356 0.860184 VII.81 0 Cryptic Acceptor Weakly Activated 28478171 3.75898 0.08352 77.3183 III.92 0.072022 83.495 0.000202 0.000287 0.000000 0.000000 0.001229 0.000000 0.000000 0.000000 0.000000 0.001229 2 1 0 0 1 0 0 0 0 9894 3486 272 114 814 50 4402 472 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -2.135 V Val GTA 0.114 A Ala GCA 0.226 39 5 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 199 PASS . . . . . . . . . . . ENSG00000233232:ENST00000452313:exon2:c.T116C:p.V39A NPIPL1:uc010vct.2:exon3:c.T161C:p.V54A . . . 0.1590909 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.005 . @ . . . . . 2 0.008 . . 44.0 . . UTR_3_PRIME(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|NM_001286109.ex.14) . . . . . . . -1.7350 -1.833 -1.735 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.460 . . exonic exonic UTR3 . . . @ . . . . . . ENSG00000233232 NPIPL1 CLN3 . . NM_001286109:c.*102T>C 0.001 0.076 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . 0.191 . . 0.168 . . . . 0.090 . . . . . . . . . . . . . . . 0.023 . . . . . . 0 . . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.226 . HET 1 . . . . . . . . . . . . . . . ENST00000452313 . . . 0.360000 E7ERT9 . . . . . 0.019 . . . 0 0.0025 0 0 0.0139 0 0 0 0 0.0003 0.0001 0 0 0 0 0 0 . . 0.428 . -2.179 -2.179000 . . 0.360000 . . 1.0E-199 0.324 0.253 . 0.157 0.052 . 0.035 . 0.005 -2.179 -2.431 . rs1064931 rs1064931 rs1064931 rs1064931 1 1538 10 1/0 0,255,255 +. 16 28482457 G T - CLN3 2074 Ceroid-lipofuscinosis, neuronal 3 NM_000086.2 -1 1877 1317 NP_000077.1 Q13286 substitution downstream GRCh37 28482457 28482457 Chr16(GRCh37):g.28482457G>T *6380 *6380 NM_000086.2:c.*6380C>A p.? p.? 15 607042 6500 3' 81.9561 X.45 0.979028 13.506 81.9561 X.45 0.979028 13.506 0 transversion C A C>A 0.000 -14.080 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.083 . @ . . . . . 2 0.139 . . 42.0 . . INTRON(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|) . . . . . . . -0.3722 -0.229 -0.372 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . CLN3 . . . 0.000 0.060 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.029 . . . . . . . . 1.0E-182 0.483 0.266 . . . . 0.173 . . . . . rs2106634 rs2106634 rs2106634 rs2106634 1 1538 10 1/0 0,255,255 +. 16 28482457 G T - NPIPL1 33832 Nuclear pore complex interacting protein-like 1 ENST00000452313.1 -1 1406 1245 ENSP00000405348 substitution upstream GRCh37 28482457 28482457 Chr16(GRCh37):g.28482457G>T -698 -698 ENST00000452313.1:c.-698C>A p.? p.? 1 -764 5' 74.1084 7.21055 0.8816 5.86875 74.1084 7.21055 0.8816 5.86875 0 transversion C A C>A 0.000 -14.080 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.083 . @ . . . . . 2 0.139 . . 42.0 . . INTRON(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|) . . . . . . . -0.3722 -0.229 -0.372 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . CLN3 . . . 0.000 0.060 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.029 . . . . . . . . 1.0E-182 0.483 0.266 . . . . 0.173 . . . . . rs2106634 rs2106634 rs2106634 rs2106634 1 1538 10 1/0 0,255,255 +. 16 28663631 C T - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution missense exon GRCh37 28663631 28663631 Chr16(GRCh37):g.28663631C>T 545 545 NM_001310136.1:c.545C>T p.Thr182Met p.Thr182Met 4 -55 5' 73.3142 5.95993 0.744538 0 73.3142 5.95993 0.744538 0 0 0.000332 0.000226 0.000332 0.000000 0.000142 0.000000 0.000621 0.000000 0.000000 0.000621 15 1 3 0 1 0 10 0 0 45162 4424 9024 1068 7050 5700 16096 444 1356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 1 3 0 1 0 10 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.028 -0.037 T Thr ACG 0.116 M Met ATG 1.000 182 5 4 Macaque -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C15 64.77 81.04 Deleterious 0.01 III.78 203 PASS . . . . . . . . . . . . NPIPL1:uc002dqq.2:exon3:c.C308T:p.T103M NPIPB8:NM_001310136:exon4:c.C545T:p.T182M . . 0.16783217 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.448 . @ . . . . . 1 0.571 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T182M|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.4) . . . . . . . -0.6793 -0.936 -0.679 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.577 . . exonic exonic exonic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.325 0.013 . . 37 . 0.528 . . 0.500 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.704 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.388 . . . . . . . 0.100 . HET 0 . . . . . . . . . . . . . . . . . . . 0.040000 . . . . . . 0.015 . . . 0.0002 0.0003 0.0003 0 0.0001 0 0.0007 0 0 0 0 0 0 0 0 0 0 . . 0.558 . 0.000 0.000000 . . 0.040000 . . 1.0E-203 0.000 0.063 . 0.148 . . 0.020 . 0.236 0.000 . . . . . . 1 1538 10 1/0 0,217,255 +. 16 28668228 T C - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution intron GRCh37 28668228 28668228 Chr16(GRCh37):g.28668228T>C 696+239 696+239 NM_001310136.1:c.696+239T>C p.? p.? 6 6 239 5' 86.9112 X.85 0.995579 2.09861 86.9112 X.85 0.995579 2.09861 0 Cryptic Acceptor Weakly Activated 28668231 I.99 0.021557 71.5337 3.05369 0.012781 77.7104 transition T C T>C 0.000 0.528 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||NPIPB8|mRNA|CODING|NM_001310136|) . . . . . . . -0.3044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 ENST00000526428:c.*32T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs40830 rs40830 rs40830 rs40830 1 1538 10 1/0 0,253,255 +. 16 28669359 C T - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution missense exon GRCh37 28669359 28669359 Chr16(GRCh37):g.28669359C>T 707 707 NM_001310136.1:c.707C>T p.Ala236Val p.Ala236Val 7 11 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.965292 7.32235 0.00152044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.063 -0.037 A Ala GCG 0.107 V Val GTG 0.468 236 5 2 Western lowland gorilla 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 110.77 0.00 Tolerated 1 III.78 181 PASS . . . . . . . . . . . ENSG00000255524:ENST00000529716:exon7:c.C707T:p.A236V . NPIPB8:NM_001310136:exon7:c.C707T:p.A236V . . 0.11612903 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.112 . . 155.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A236V|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.7) . . . . . . . -0.9205 -1.138 -0.920 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.414 . . exonic intronic exonic . . . @ . . . 0.27 0.2 182 ENSG00000255524 NPIPL1 NPIPB8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.093 0.004 . . 37 . 0.300 . . 0.378 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.443 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.241 . . . . . . . 0.310 . LowAF . . . . . . . . . . . . . . . . . . . . 0.120000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.000 0.000000 . . 0.120000 . . 1.0E-181 0.000 0.063 . 0.016 . . 0.037 . 0.004 0.000 . . rs465903 rs465903 rs465903 rs465903 1 1538 10 1/0 0,209,255 +. 16 28669635 C T - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution missense exon GRCh37 28669635 28669635 Chr16(GRCh37):g.28669635C>T 983 983 NM_001310136.1:c.983C>T p.Pro328Leu p.Pro328Leu 7 287 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition C T C>T 0.000 -14.080 P Pro CCG 0.115 L Leu CTG 0.404 328 5 5 White-tuffed-ear marmoset -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C65 0.00 97.78 Deleterious 0 III.78 214 PASS . . . . . . . . . . . ENSG00000255524:ENST00000529716:exon7:c.C983T:p.P328L . NPIPB8:NM_001310136:exon7:c.C983T:p.P328L . . 0.19685039 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.530 . @ . . . . . 1 0.319 . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P328L|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.7) . . . . . . . -0.1374 -0.281 -0.137 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.202 . . exonic intronic exonic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.474 0.024 . . 37 . 0.480 . . 0.450 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.877 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.784 . . . . . . . 0.318 . HET . . . . . . . . . . . . . . . . . . . . 0.010000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.010000 . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 16 28669698 C T - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution missense exon GRCh37 28669698 28669698 Chr16(GRCh37):g.28669698C>T 1046 1046 NM_001310136.1:c.1046C>T p.Pro349Leu p.Pro349Leu 7 350 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition C T C>T 0.000 -14.080 P Pro CCG 0.115 L Leu CTG 0.404 349 5 4 Macaque -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 109.62 25.13 Tolerated 0.35 III.78 185 PASS . . . . . . . . . . . ENSG00000255524:ENST00000529716:exon7:c.C1046T:p.P349L . NPIPB8:NM_001310136:exon7:c.C1046T:p.P349L . . 0.123893805 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.333 . . 113.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P349L|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.7) . . . . . . . -0.1726 -0.303 -0.173 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.593 . . exonic intronic exonic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.592 0.040 . . 37 . 0.527 . . 0.499 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.925 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.784 . . . . . . . 0.312 . LowAF . . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.000000 . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 16 28669699 G A - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution synonymous exon GRCh37 28669699 28669699 Chr16(GRCh37):g.28669699G>A 1047 1047 NM_001310136.1:c.1047G>A p.Pro349= p.Pro349Pro 7 351 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition G A G>A 0.000 -14.080 P Pro CCG 0.115 P Pro CCA 0.274 349 255 PASS . . . . . . . . . . . ENSG00000255524:ENST00000529716:exon7:c.G1047A:p.P349P . NPIPB8:NM_001310136:exon7:c.G1047A:p.P349P . . 0.35135135 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 111.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P349|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.7) . . . . . . . -0.2961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intronic exonic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs671311 rs671311 rs671311 rs671311 1 1538 10 1/0 0,243,255 +. 16 28746182 G A - EIF3C 3279 Eukaryotic translation initiation factor 3, subunit C NM_001037808.2 1 3140 2742 NP_001032897.1 Q99613 substitution intron GRCh37 28746182 28746182 Chr16(GRCh37):g.28746182G>A 2408+18 2408+18 NM_001037808.2:c.2408+18G>A p.? p.? 18 18 603916 18 5' 84.1408 9.87848 0.942715 X.96 84.1408 9.87848 0.942715 X.95 0 transition G A G>A 0.024 0.851 215 PASS . . . . . . . . . . . . . . . . 0.19806764 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 207.0 . . . . . . . . . . -0.0361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000261419 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +. 16 28773621 T C - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution missense exon GRCh37 28773621 28773621 Chr16(GRCh37):g.28773621T>C 170 170 NM_001287250.1:c.170T>C p.Val57Ala p.Val57Ala 2 50 3' 93.468 7.11356 0.860184 6.74895 93.468 7.11356 0.860184 VII.81 0 Cryptic Acceptor Weakly Activated 28773624 3.75898 0.08352 77.3183 III.92 0.072022 83.495 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 0 2 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -14.080 V Val GTA 0.114 A Ala GCA 0.226 57 5 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 228.86 0.00 Tolerated 1 IV.32 219 PASS . . . . . . . . . . . ENSG00000196993:ENST00000550983:exon3:c.T161C:p.V54A . . . . 0.21276596 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.003 . . 47.0 . . . . . . . . . . -1.0204 -1.031 -1.020 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . . @ . . . 0.51 0.39 182 ENSG00000196993 NPIPL1 NPIPB9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.375 0.016 . . 37 . 0.198 . . 0.212 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 0.010 . . . . . . . 0.199 . HET 1 . . . . . . . . . . . . . . . ENST00000550983 . . . 0.300000 . . . . . . 0.005 . . . . . . . . . . . . . 0 . . 0 0 0 . . . 0.246 . . . . . 0.300000 . . 1.0E-219 0.000 0.063 . 0.016 . . 0.006 . 0.001 . . . rs1064931 rs1064931 rs1064931 rs1064931 1 1538 10 1/0 0,255,255 +. 16 28777756 C T - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution missense exon GRCh37 28777756 28777756 Chr16(GRCh37):g.28777756C>T 545 545 NM_001287250.1:c.545C>T p.Thr182Met p.Thr182Met 4 -55 5' 73.3142 5.95993 0.744538 0 73.3142 5.95993 0.744538 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1016 0 476 10 58 276 132 10 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 275 Exomes transition C T C>T 0.028 0.125 T Thr ACG 0.116 M Met ATG 1.000 182 5 4 Western lowland gorilla -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 215.09 64.73 Deleterious 0 IV.32 179 PASS . . . . . . . . . . . . . . . . 0.112 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.273 . @ . . . . . 1 0.596 . . 125.0 . . . . . . . . . . -0.5771 -0.905 -0.577 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.577 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196993 NPIPL1 NPIPB9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.972 0.665 . . 37 . 0.587 . . 0.476 . . . 0.456 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.635 . . 0 0 0 0 0 0 . 0.899 . . 0.739 . . . . . . 0 0.386 . . . . . . . 0.054 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.050000 . . . . . . 0.005 . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.558 . 0.149 0.149000 . . 0.050000 . . 1.0E-179 0.001 0.137 . 0.090 0.009 . 0.015 . 0.021 0.149 -1.380 . . . . . 1 1538 10 1/0 0,218,255 +. 16 28782353 T C - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution intron GRCh37 28782353 28782353 Chr16(GRCh37):g.28782353T>C 696+239 696+239 NM_001287250.1:c.696+239T>C p.? p.? 6 6 239 5' 86.9112 X.85 0.995579 2.09861 86.9112 X.85 0.995579 2.09861 0 Cryptic Acceptor Weakly Activated 28782356 I.99 0.021557 71.5337 3.05369 0.012781 77.7104 transition T C T>C 0.114 0.125 196 PASS . . . . . . . . . . . . . . . . 0.1521739 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.3580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.34 182 ENSG00000196993 NPIPL1 NPIPB9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs40830 rs40830 rs40830 rs40830 1 1538 10 1/0 0,255,255 +. 16 28783484 C T - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution missense exon GRCh37 28783484 28783484 Chr16(GRCh37):g.28783484C>T 707 707 NM_001287250.1:c.707C>T p.Ala236Val p.Ala236Val 7 11 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.965292 7.32235 0.00152044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -1.328 A Ala GCG 0.107 V Val GTG 0.468 236 5 4 Western lowland gorilla 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 65.28 0.00 Tolerated 0.42 IV.32 176 PASS . . . . . . . . . . . . . . . . 0.104575165 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.111 . . 153.0 . . . . . . . . . . -1.4397 -1.624 -1.440 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . . @ . . . 0.28 0.36 182 ENSG00000196993 NPIPL1 NPIPB9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.928 0.370 . . 37 . 0.191 . . 0.083 . . . 0.358 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.481 . . 0 0 0 0 0 0 . 0.432 . . 0.312 . . . . . . 0 0.253 . . . . . . . 0.234 . LowAF 0.2 . . . . . . . . . . . . . . . . . . . 0.140000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.371 -1.371000 . . 0.140000 . . 1.0E-176 0.001 0.137 . 0.062 0.004 . 0.035 . 0.030 -1.371 -1.380 . rs465903 rs465903 rs465903 rs465903 1 1538 10 1/0 0,208,255 +. 16 28783760 C T - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution missense exon GRCh37 28783760 28783760 Chr16(GRCh37):g.28783760C>T 983 983 NM_001287250.1:c.983C>T p.Pro328Leu p.Pro328Leu 7 287 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition C T C>T 0.000 -14.080 P Pro CCG 0.115 L Leu CTG 0.404 328 5 5 Western lowland gorilla -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C65 0.00 97.78 Deleterious 0 IV.32 196 PASS . . . . . . . . . . . . . . . . 0.1484375 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.532 . @ . . . . . 1 0.335 . . 128.0 . . . . . . . . . . 0.0958 -0.115 0.096 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.502 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196993 NPIPL1 NPIPB9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.999 0.978 . . 37 . 0.575 . . 0.431 . . . 0.668 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.904 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.784 . . . . . . . 0.284 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.010000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.010000 . . 1.0E-196 0.003 0.159 . 0.043 . . 0.157 . 0.242 . . . . . . . 1 1538 10 1/0 0,220,255 +. 16 28783824 G A - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution synonymous exon GRCh37 28783824 28783824 Chr16(GRCh37):g.28783824G>A 1047 1047 NM_001287250.1:c.1047G>A p.Pro349= p.Pro349Pro 7 351 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition G A G>A 0.000 -14.080 P Pro CCG 0.115 P Pro CCA 0.274 349 252 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.3004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.32 182 ENSG00000196993 NPIPL1 NPIPB9 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs671311 rs671311 rs671311 rs671311 1 1538 10 1/0 0,251,255 +rs370538925 (chr16:29049063 C/G) 16 29049063 C G Not on a known gene +. (chr16:29057684 C/T) 16 29057684 C T Not on a known gene +. (chr16:29057701 G/A) 16 29057701 G A Not on a known gene +. (chr16:29062014 G/C) 16 29062014 G C Not on a known gene +rs200075919 (chr16:29063417 C/T) 16 29063417 C T Not on a known gene +. (chr16:29063466 T/TA) 16 29063466 T TA Not on a known gene +rs796341971 16 29394758 G T - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution missense exon GRCh37 29394758 29394758 Chr16(GRCh37):g.29394758G>T 1495 1495 NM_001310137.1:c.1495C>A p.Pro499Thr p.Pro499Thr 7 853 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 rs796341971 no no 0 G 0.000000 0 0.009681 0.084746 0.012479 0.004950 0.022099 0.008637 0.002641 0.003759 0.005882 0.084746 60 10 15 2 16 9 6 1 1 6198 118 1202 404 724 1042 2272 266 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 10 15 2 16 9 6 1 1 0 0 0 0 0 0 0 0 0 PASS 1394 Exomes transversion C A C>A 0.000 -14.080 P Pro CCT 0.283 T Thr ACT 0.243 499 5 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000254206:ENST00000524087:exon8:c.C1495A:p.P499T . NPIPB11:NM_001310137:exon7:c.C1495A:p.P499T . . 0.91752577 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.371 . @ . . . . . 1 0.533 . . 97.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P499T|NPIPB11|mRNA|CODING|NM_001310137|NM_001310137.ex.7) . . . . . . . -0.1860 -0.311 -0.186 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.174 . . exonic ncRNA_intronic exonic . . . @ . . . . . . ENSG00000254206 AF072097 NPIPB11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.323 0.013 . . 37 . 0.226 . . 0.332 . . . 0.534 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.505 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.410 . . . . . . . 0.065 . HOM . . . . . . . . . . . . . . . . ENST00000524087 . . . 0.000000 . . . . . . 0.009 . . . 0.0847 0.0097 0.0125 0.0050 0.0221 0.0038 0.0026 0.0059 0.0086 . . . . . . . . . . 0.246 . . . . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.090 . . 0.185 . 0.269 . . . . . . . 1 1538 10 1/0 0,253,250 +rs758595719 16 29395195 C T - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution missense exon GRCh37 29395195 29395195 Chr16(GRCh37):g.29395195C>T 1058 1058 NM_001310137.1:c.1058G>A p.Arg353His p.Arg353His 7 416 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 rs758595719 yes no Frequency 1 C 0.000000 0 0.000081 0.000149 0.000054 0.000000 0.000000 0.000000 0.000130 0.000182 0.000000 0.000182 8 1 1 0 0 0 5 1 0 99218 6706 18634 3812 9046 14276 38526 5498 2720 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 0 0 0 5 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -14.080 R Arg CGT 0.082 H His CAT 0.413 353 5 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000254206:ENST00000524087:exon8:c.G1058A:p.R353H . NPIPB11:NM_001310137:exon7:c.G1058A:p.R353H . . 0.11042945 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.467 . @ . . . . . 1 0.844 . . 163.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R353H|NPIPB11|mRNA|CODING|NM_001310137|NM_001310137.ex.7) . . . . . . . -0.5846 -0.696 -0.585 c . . . . . 1.613e-05 . . . . . . . . . . . 0 0 0 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.199 . . exonic ncRNA_exonic exonic . . . @ . . . . . . ENSG00000254206 AF072097 NPIPB11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.483 0.025 . . 37 . 0.113 . . 0.307 . . . 0.181 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.206 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.269 . . . . . . . 0.006 . LowAF . rs758595719 . . . . . . . . . . . . . . ENST00000524087 . . . 0.070000 . . . . . . 0.007 . . . 0 5.582e-05 5.495e-05 0 0 0 0.0001 0 0 0.0006 0.0003 0 0 0 0.0005 0.0002 0 . . 0.924 . . . . . 0.070000 . . 1.0E-179 0.002 0.151 . 0.062 0.005 . 0.174 . 0.266 . 0.057 . rs16951419 rs16951419 . . 1 1538 10 1/0 0,206,255 +. 16 29396853 C T - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution intron GRCh37 29396853 29396853 Chr16(GRCh37):g.29396853C>T 642+118 642+118 NM_001310137.1:c.642+118G>A p.? p.? 6 6 118 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.004 -0.360 178 PASS . . . . . . . . . . . . . . . . 0.108571425 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.107 . @ . . . . . 2 0.060 . . 175.0 . . INTRON(MODIFIER||||NPIPB11|mRNA|CODING|NM_001310137|) . . . . . . . -0.0905 -0.180 -0.091 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . 0.098 @ . . . . . . ENSG00000198106 NPIPL1 NPIPB11 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.062 . . . . . . . . . . . . . . . . . . . . . . 0.047 . . . . . . . . 1.0E-178 0.494 0.267 . 0.170 0.123 . 0.289 . 0.269 . 0.143 . rs256387 rs256387 rs256387 rs256387 1 1538 10 1/0 0,203,255 +. 16 29397089 T C - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution intron GRCh37 29397089 29397089 Chr16(GRCh37):g.29397089T>C 606+27 606+27 NM_001310137.1:c.606+27A>G p.? p.? 5 5 27 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.70519 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.000 -0.521 209 PASS . . . . . . . . . . . . . . . . 0.18292683 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 164.0 . . INTRON(MODIFIER||||NPIPB11|mRNA|CODING|NM_001310137|) . . . . . . . -0.3850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000198106 NPIPL1 NPIPB11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs113663049 rs113663049 1 1538 10 1/0 0,212,255 +. 16 29397147 C T - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution missense exon GRCh37 29397147 29397147 Chr16(GRCh37):g.29397147C>T 575 575 NM_001310137.1:c.575G>A p.Arg192Gln p.Arg192Gln 5 30 3' 75.8135 5.81957 0.057516 1.30576 75.8135 5.81957 0.057516 0 0 transition G A G>A 0.000 -1.812 R Arg CGG 0.207 Q Gln CAG 0.744 192 5 3 Sumatran orangutan 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.31 0.00 Tolerated 0.12 IV.32 204 PASS . . . . . . . . . . . ENSG00000254206:ENST00000524087:exon6:c.G575A:p.R192Q . NPIPB11:NM_001310137:exon5:c.G575A:p.R192Q . . 0.16935484 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.275 . @ . . . . . 1 0.249 . . 124.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R192Q|NPIPB11|mRNA|CODING|NM_001310137|NM_001310137.ex.5) . . . . . . . -1.4153 -1.642 -1.415 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.460 . . exonic intronic exonic . . 0.093 @ . . . . . . ENSG00000254206 NPIPL1 NPIPB11 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.257 . . 0.206 . . . 0.404 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.350 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.327 . . . . . . . 0.048 . HET 0.17 . . . . . . . . . . . . . . . ENST00000524087 0.551 -1.1 . 0.230000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.924 . -1.961 -1.961000 . . 0.230000 . . 1.0E-204 0.000 0.063 . 0.016 0.004 . 0.015 . 0.004 -1.961 -1.297 . rs256385 rs256385 rs256385 rs256385 1 1538 10 1/0 0,223,255 +. 16 29442670 C A - SMG1P6 49863 SMG1P6, nonsense mediated mRNA decay associated PI3K related kinasepseudogene 6 NR_135312.1 -1 3132 0 substitution exon GRCh37 29442670 29442670 Chr16(GRCh37):g.29442670C>A 2135 2135 NR_135312.1:n.2135G>T 15 -71 5' 82.5385 VI.58 0.988414 0 82.5385 VI.58 0.988414 0 0 0.000046 0.000000 0.000187 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000187 1 0 1 0 0 0 0 0 0 21698 1860 5358 370 4248 3144 5900 244 574 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Exomes transversion G T G>T 0.953 0.286 255 PASS . . . . . . . . . . . . AK096982:uc021tfy.1:exon9:c.G1039T:p.A347S . . . 0.8 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 10.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000254634 AK096982 . . . dist\x3d27547\x3bdist\x3d17996 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.609e-05 0.0002 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 29455641 T C - SMG1P6 49863 SMG1P6, nonsense mediated mRNA decay associated PI3K related kinasepseudogene 6 NR_135312.1 -1 3132 0 substitution intron GRCh37 29455641 29455641 Chr16(GRCh37):g.29455641T>C 327+78 327+78 NR_135312.1:n.327+78A>G p.? p.? 2 2 78 5' 96.9453 11.0785 0.998391 3.41541 96.9453 11.0785 0.998391 3.36634 0 New Donor Site 29455642 6.69345 0.989804 83.257 transition A G A>G 0.323 0.770 255 PASS . . . . . . . . . . . . . . . . 0.4347826 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . . . . . LOC440354 . . . dist\x3d40518\x3bdist\x3d5025 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3916368 rs3916368 rs3916368 rs3916368 1 1538 10 1/0 0,255,255 +rs772856845 16 29496768 G A - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution synonymous exon GRCh37 29496768 29496768 Chr16(GRCh37):g.29496768G>A 1029 1029 NM_001355401.1:c.1029C>T p.Pro343= p.Pro343Pro 8 387 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 0.000081 0.000083 0.000000 0.000000 0.000225 0.000000 0.000103 0.000000 0.000000 0.000225 6 1 0 0 2 0 3 0 0 74452 12082 10882 1414 8900 6032 29060 3870 2212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 2 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.031 0.044 P Pro CCC 0.328 P Pro CCT 0.283 343 193 PASS . . . . . . . . . . . . . . . . 0.14214464 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 401.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000169203 LOC440354 . . . dist\x3d17869\x3bdist\x3d42161 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.06e-05 0 0 0.0003 0 5.71e-05 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +. 16 29498397 C T - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution intron GRCh37 29498397 29498397 Chr16(GRCh37):g.29498397C>T 642+118 642+118 NM_001355401.1:c.642+118G>A p.? p.? 7 7 118 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.000 -0.360 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.080 . @ . . . . . 3 0.026 . . 49.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1249 -0.186 -0.125 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . 0.094 @ . . . 0.49 0.33 182 ENSG00000198106 LOC440354 . . . dist\x3d19498\x3bdist\x3d40532 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . . . . . . . . . . . . . . . 0.031 . . . . . . . . 9.999999999999999E-185 0.560 0.272 . 0.128 0.136 . 0.286 . 0.247 . 0.057 . rs256387 rs256387 rs256387 rs256387 1 1538 10 1/0 0,255,255 +. 16 29498633 T C - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution intron GRCh37 29498633 29498633 Chr16(GRCh37):g.29498633T>C 606+27 606+27 NM_001355401.1:c.606+27A>G p.? p.? 6 6 27 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.70519 0 0.002970 0.000000 0.019608 0.000000 0.000000 0.000000 0.003356 0.000000 0.000000 0.019608 3 0 2 0 0 0 1 0 0 1010 36 102 8 4 0 298 526 36 0.333333 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 103 Genomes transition A G A>G 0.000 -0.521 225 PASS . . . . . . . . . . . . . . . . 0.22916667 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.48 0.37 182 ENSG00000198106 LOC440354 . . . dist\x3d19734\x3bdist\x3d40296 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0030 0.0196 0 0 0 0.0034 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs113663049 rs113663049 1 1538 10 1/0 0,222,255 +. 16 29498642 A G - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution intron GRCh37 29498642 29498642 Chr16(GRCh37):g.29498642A>G 606+18 606+18 NM_001355401.1:c.606+18T>C p.? p.? 6 6 18 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.63221 0 Cryptic Acceptor Weakly Activated 29498637 5.85635 0.712674 83.3645 6.33715 0.765819 79.8189 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 872 30 90 10 2 0 254 456 30 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 113 Genomes transition T C T>C 0.000 -2.054 181 PASS . . . . . . . . . . . . . . . . 0.11564626 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 147.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.45 0.33 182 ENSG00000198106 LOC440354 . . . dist\x3d19743\x3bdist\x3d40287 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs256386 rs256386 rs256386 rs256386 1 1538 10 1/0 0,211,255 +. 16 29498691 C T - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution missense exon GRCh37 29498691 29498691 Chr16(GRCh37):g.29498691C>T 575 575 NM_001355401.1:c.575G>A p.Arg192Gln p.Arg192Gln 6 30 3' 75.8135 5.81957 0.057516 1.30576 75.8135 5.81957 0.057516 0 0 transition G A G>A 0.000 -0.602 R Arg CGG 0.207 Q Gln CAG 0.744 192 3 2 Sumatran orangutan 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.31 0.00 Deleterious 0 IV.32 226 PASS . . . . . . . . . . . . NPIPL3:uc021tgb.1:exon5:c.G575A:p.R192Q . . . 0.23140496 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.309 . @ . . . . . 3 0.496 . . 121.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9228 -1.159 -0.923 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.460 . . exonic exonic intergenic . . 0.094 @ . . . 0.41 0.7 182 ENSG00000169203 NPIPL3 . . . dist\x3d19792\x3bdist\x3d40238 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.005 0.001 . . 37 . 0.258 . . 0.252 . . . . 0.090 . . . . . . . . . . . . . . . 0.322 . . . . . . 0 . . . . . . . . . . . . . 0.266 . . . . . . . 0.204 . HET 0 . . . . . . . . . . . . . . . . 0.532 -1.06 . 0.350000 . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.637 -0.637000 . . 0.350000 . . 1.0000000000000001E-226 0.000 0.063 . 0.062 0.366 . 0.028 . 0.019 -0.637 0.057 . rs256385 rs256385 rs256385 rs256385 1 1538 10 1/0 0,230,255 +. 16 29502920 C A - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution missense exon GRCh37 29502920 29502920 Chr16(GRCh37):g.29502920C>A 413 413 NM_001355401.1:c.413G>T p.Gly138Val p.Gly138Val 5 64 3' 73.4942 4.79688 0.196168 4.75205 73.4942 4.79688 0.196168 4.56513 0 Cryptic Acceptor Strongly Activated 29502911 3,00E-06 64.0144 0.606036 2.8e-05 69.4672 transversion G T G>T 0.000 -1.247 G Gly GGC 0.342 V Val GTC 0.240 138 3 2 Sumatran orangutan -3 -3 -6 0.74 0 9 5.IX 3 84 109 C15 93.77 78.01 Deleterious 0.02 IV.32 191 PASS . . . . . . . . . . . ENSG00000169203:ENST00000550665:exon5:c.G413T:p.G138V NPIPL3:uc021tgb.1:exon4:c.G413T:p.G138V . . . 0.13636364 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.082 . @ . . . . . 3 0.162 . . 176.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9423 -1.206 -0.942 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.515 . . exonic exonic intergenic . . 0.093 @ . . . 0.39 0.62 182 ENSG00000169203 NPIPL3 . . . dist\x3d24021\x3bdist\x3d36009 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.319 . . 0.235 . . . . 0.090 . . . . . . . . . . . . . . . 0.861 . . . . . . 0 . . . . . . . . . . . . . 0.193 . . . . . . . 0.640 . LowAF . . . . . . . . . . . . . . . . ENST00000550665 0.551 -1.1 . 0.210000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -1.266 -1.266000 . . 0.210000 . . 1.0E-191 0.000 0.063 . 0.090 0.033 . 0.069 . 0.252 -1.266 0.057 . rs698063 rs698063 rs698063 rs698063 1 1538 10 1/0 0,205,255 +. 16 29559975 C T - SMG1P2 49859 SMG1P2, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 2 XR_001733754.1 -1 4620 0 substitution exon GRCh37 29559975 29559975 Chr16(GRCh37):g.29559975C>T 1996 1996 XR_001733754.1:n.1996G>A 12 109 3' 89.3066 11.0173 0.974591 9.72696 89.3066 11.0173 0.974591 9.72696 0 transition G A G>A 1.000 4.079 255 PASS . . . . . . . . . . . . . . . . 0.5483871 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 31.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D427N|SMG1P2|Non-coding_transcript|NON_CODING|NR_002473|NR_002473.ex.10) . . . . . . . 1.0031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.69 0.49 182 ENSG00000205534 LOC440354 SMG1P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71270118 rs71270118 rs71270118 1 1538 10 1/0 0,255,255 +. 16 29816381 C G - KIF22 6391 Kinesin family member 22 NM_007317.2 1 2120 1998 NP_015556.1 Q14807 substitution intron GRCh37 29816381 29816381 Chr16(GRCh37):g.29816381C>G 1890+34 1890+34 NM_007317.2:c.1890+34C>G p.? p.? 12 12 603213 34 5' 71.8945 6.37419 0.861993 XI.82 71.8945 6.37419 0.861993 XI.83 0 transversion C G C>G 0.000 -1.812 179 PASS . . . . . . . . . . . . . . . . 0.11235955 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 1.0253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000079616 KIF22 KIF22 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 16 29816381 C G - MAZ 6914 MYC-associated zinc finger protein (purine-binding transcription factor) NM_001042539.2 1 2776 1482 NP_001036004.1 substitution upstream GRCh37 29816381 29816381 Chr16(GRCh37):g.29816381C>G -1642 -1642 NM_001042539.2:c.-1642C>G p.? p.? 1 600999 -1834 5' 95.6376 X.36 0.995528 16.3061 95.6376 X.36 0.995528 16.3061 0 transversion C G C>G 0.000 -1.812 179 PASS . . . . . . . . . . . . . . . . 0.11235955 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 1.0253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000079616 KIF22 KIF22 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 16 30078943 C G - ALDOA 414 Aldolase, fructose-bisphosphate A NM_001243177.1 1 1733 1257 NP_001230106.1 substitution synonymous exon GRCh37 30078943 30078943 Chr16(GRCh37):g.30078943C>G 447 447 NM_001243177.1:c.447C>G p.Pro149= p.Pro149Pro 4 103850 -40 5' 94.6745 X.23 0.997794 8.348 94.6745 X.23 0.997794 8.68111 0 Fructose-bisphosphate aldolase, class-I transversion C G C>G 0.984 0.528 P Pro CCC 0.328 P Pro CCG 0.115 149 255 PASS . . . . . . . . . . . . . . . . 0.4631579 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . 1.0013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000149925 ALDOA ALDOA . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 30234740 G C - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution synonymous exon GRCh37 30234740 30234740 Chr16(GRCh37):g.30234740G>C 3027 3027 NM_001321892.1:c.3027C>G p.Ala1009= p.Ala1009Ala 9 2385 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 Cryptic Acceptor Strongly Activated 30234741 4.84252 0.048024 77.5739 5.79968 0.067346 77.5739 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 2 0 0 0 0 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.008 -2.135 A Ala GCC 0.403 A Ala GCG 0.107 1009 185 PASS . . . . . . . . . . . . . . . . 0.123931624 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 234.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P1022R|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.7) . . . . . . . -0.8312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.25 182 ENSG00000198064 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs1053313 rs1053313 rs1053313 rs1053313 1 1538 10 1/0 0,192,255 +rs200827905 16 30236738 G A - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution synonymous exon GRCh37 30236738 30236738 Chr16(GRCh37):g.30236738G>A 1029 1029 NM_001321892.1:c.1029C>T p.Pro343= p.Pro343Pro 9 387 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 rs200827905 yes no Frequency 1 G 0.000000 0 0.001585 0.000000 0.000000 0.000000 0.000000 0.000000 0.006494 0.000000 0.017857 0.006494 2 0 0 0 0 0 1 0 1 1262 270 98 4 70 0 154 610 56 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 118 Genomes transition C T C>T 0.000 -14.080 P Pro CCC 0.328 P Pro CCT 0.283 343 188 PASS . . . . . . . . . . . . . . . . 0.13138686 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 137.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P356L|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.7) . . . . . . . -0.3524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.38 0.24 182 ENSG00000198064 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200827905 . . . . . . ID\x3dCOSM1318597\x3bOCCURENCE\x3d1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0016 0 0 0 0 0.0065 0.0179 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs200827905 rs200827905 1 1538 10 1/0 0,215,255 +. 16 30236852 A G - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution synonymous exon GRCh37 30236852 30236852 Chr16(GRCh37):g.30236852A>G 915 915 NM_001321892.1:c.915T>C p.Pro305= p.Pro305Pro 9 273 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 0.000394 0.000000 0.000426 0.000000 0.000965 0.000242 0.000492 0.000000 0.000000 0.000965 6 0 1 0 2 1 2 0 0 15222 1682 2348 344 2072 4128 4068 138 442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 2 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 101 Exomes transition T C T>C 0.000 -14.080 P Pro CCT 0.283 P Pro CCC 0.328 305 199 PASS . . . . . . . . . . . . . . . . 0.15517241 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L318P|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.7) . . . . . . . -0.3141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.4 0.26 182 ENSG00000198064 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0.0004 0 0.0010 0 0.0005 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs28465269 rs28465269 rs28465269 rs28465269 1 1538 10 1/0 0,255,255 +. 16 30238290 C T - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution intron GRCh37 30238290 30238290 Chr16(GRCh37):g.30238290C>T 642+195 642+195 NM_001321892.1:c.642+195G>A p.? p.? 8 8 195 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.000 -1.409 194 PASS . . . . . . . . . . . . . . . . 0.14457831 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||LOC613037|Non-coding_transcript|NON_CODING|NR_002555|) . . . . . . . -0.5875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000183604 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +. 16 30238367 C T - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution intron GRCh37 30238367 30238367 Chr16(GRCh37):g.30238367C>T 642+118 642+118 NM_001321892.1:c.642+118G>A p.? p.? 8 8 118 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.004 -0.279 191 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.083 . @ . . . . . 2 0.029 . . 153.0 . . INTRON(MODIFIER||||LOC613037|Non-coding_transcript|NON_CODING|NR_002555|) . . . . . . . -0.1180 -0.185 -0.118 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . 0.094 @ . . . 0.5 0.29 182 ENSG00000183604 LOC613037 LOC613037 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.065 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-191 0.608 0.276 . 0.141 . . 0.297 . 0.269 . . . rs256387 rs256387 rs256387 rs256387 1 1538 10 1/0 0,211,255 +. 16 30238603 T C - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution intron GRCh37 30238603 30238603 Chr16(GRCh37):g.30238603T>C 606+27 606+27 NM_001321892.1:c.606+27A>G p.? p.? 7 7 27 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.70519 0 transition A G A>G 0.000 0.044 210 PASS . . . . . . . . . . . . . . . . 0.18579236 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 183.0 . . INTRON(MODIFIER||||LOC613037|Non-coding_transcript|NON_CODING|NR_002555|) . . . . . . . -0.4519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.45 182 ENSG00000183604 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs113663049 rs113663049 1 1538 10 1/0 0,208,255 +. 16 30238661 C T - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution missense exon GRCh37 30238661 30238661 Chr16(GRCh37):g.30238661C>T 575 575 NM_001321892.1:c.575G>A p.Arg192Gln p.Arg192Gln 7 30 3' 75.8135 5.81957 0.057516 1.30576 75.8135 5.81957 0.057516 0 0 transition G A G>A 0.000 -1.005 R Arg CGG 0.207 Q Gln CAG 0.744 192 4 3 Sumatran orangutan 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.31 0.00 Deleterious 0 IV.32 183 PASS . . . . . . . . . . . ENSG00000198064:ENST00000520915:exon6:c.G575A:p.R192Q . . . . 0.11888112 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.138 . @ . . . . . 1 0.466 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G205S|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.5) . . . . . . . -0.8707 -1.157 -0.871 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.460 . . exonic exonic ncRNA_exonic . . 0.077 @ . . . 0.55 0.67 182 ENSG00000198064 LOC613037 LOC613037 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.149 0.006 . . 37 . 0.303 . . 0.240 . . . . . . . . . . . . . . . . . . . . 0.299 . . . . . . 0 . . 0.485 . . 0.475 . . . . . . 0 0.162 . . . . . 0.026 . 0.118 . LowAF 0.01 . . . . . . . . . . . . . I.16 . . 0.845 -1.69 . 0.360000 A6NJU9 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.135 -1.135000 . . 0.360000 . . 1.0E-183 0.000 0.063 . 0.043 . . 0.023 . 0.032 -1.135 . . rs256385 rs256385 rs256385 rs256385 1 1538 10 1/0 0,213,255 +. 16 30242893 C A - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution missense exon GRCh37 30242893 30242893 Chr16(GRCh37):g.30242893C>A 413 413 NM_001321892.1:c.413G>T p.Gly138Val p.Gly138Val 6 64 3' 73.4942 4.79688 0.196168 4.75205 73.4942 4.79688 0.196168 4.56513 0 Cryptic Acceptor Strongly Activated 30242884 3,00E-06 64.0144 0.606036 2.8e-05 69.4672 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 6 0 0 4 0 4 28 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 614 Genomes transversion G T G>T 0.000 -1.247 G Gly GGC 0.342 V Val GTC 0.240 138 4 3 Sumatran orangutan -3 -3 -6 0.74 0 9 5.IX 3 84 109 C15 93.77 78.01 Deleterious 0.02 IV.32 205 PASS . . . . . . . . . . . ENSG00000198064:ENST00000520915:exon5:c.G413T:p.G138V . . . . 0.17156863 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.094 . @ . . . . . 1 0.156 . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A151S|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.4) . . . . . . . -0.6785 -1.019 -0.678 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.515 . . exonic exonic ncRNA_exonic . . 0.094 @ . . . 0.7 0.63 182 ENSG00000198064 LOC613037 LOC613037 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.126 0.005 . . 37 . 0.563 . . 0.562 . . . . . . . . . . . . . . . . . . . . 0.779 . . . . . . 0 . . 0.689 . . 0.764 . . . . . . 0 0.206 . . . . . . . 0.088 . HET 0.29 . . . . . . . . . . . . . . . ENST00000520915 0.532 -1.06 . 0.190000 A6NJU9 . . . . . 0.006 . . . . . . . . . . . . 0 0 . . 0 0 0 . . . 0.558 . -1.298 -1.298000 . . 0.190000 . . 1.0E-205 0.000 0.063 . 0.114 . . 0.077 . 0.251 -1.298 . . rs698063 rs698063 rs698063 rs698063 1 1538 10 1/0 0,202,255 +. 16 30246885 C A - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution missense exon GRCh37 30246885 30246885 Chr16(GRCh37):g.30246885C>A 136 136 NM_001321892.1:c.136G>T p.Ala46Ser p.Ala46Ser 4 16 3' 93.468 7.11356 0.883348 6.29501 93.468 7.11356 0.868477 6.38959 -0.0056116 transversion G T G>T 0.000 -0.279 A Ala GCT 0.263 S Ser TCT 0.185 46 4 2 Chimp 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Deleterious 0 IV.32 200 PASS . . . . . . . . . . . . . . . . 0.15841584 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.149 . @ . . . . . 1 0.136 . . 101.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W58C|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.2) . . . . . . . -1.4995 -1.651 -1.499 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.453 . . exonic exonic ncRNA_exonic . . 0.093 @ . . . . . . ENSG00000198064 LOC613037 LOC613037 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.116 0.005 . . 37 . 0.258 . . 0.193 . . . . . . . . . . . . . . . . . . . . 0.219 . . . . . . 0 . . 0.259 . . 0.212 . . . . . . 0 0.446 . . . . . . . 0.146 . HET 0 . . . . . . . . . . . . . . . ENST00000520915 0.551 -1.1 . 0.160000 A6NJU9 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.280 -0.280000 . . 0.160000 . . 1.0E-200 0.002 0.151 . 0.043 0.021 . 0.048 . 0.037 -0.280 0.057 . . . . . 1 1538 10 1/0 0,231,255 +. 16 30295315 TC T - SMG1P5 49862 SMG1P5, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 5 NR_002453.5 -1 2367 0 deletion downstream GRCh37 30295316 30295316 Chr16(GRCh37):g.30295316del *1023 *1023 NR_002453.5:n.*1023del p.? p.? 13 1463 3' 99.5701 11.422 0.993986 11.712 99.5701 11.422 0.993986 11.712 0 0.000634 0.000475 0.001211 0.000000 0.000000 0.000000 0.000273 0.002774 0.001062 0.002774 19 4 1 0 0 0 4 9 1 29964 8418 826 300 1588 0 14646 3244 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 4 1 0 0 0 4 9 1 0 0 0 0 0 0 0 0 0 RF 53 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.4375 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000183604 LOC595101 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0.0012 0 0 0.0028 0.0003 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,36 +. 16 30297410 T C - SMG1P5 49862 SMG1P5, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 5 NR_002453.5 -1 2367 0 substitution intron GRCh37 30297410 30297410 Chr16(GRCh37):g.30297410T>C 1927+78 1927+78 NR_002453.5:n.1927+78A>G p.? p.? 12 12 78 5' 96.9453 11.0785 0.998391 3.41541 96.9453 11.0785 0.998391 3.36634 0 New Donor Site 30297411 6.69345 0.989804 83.257 transition A G A>G 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.34285715 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . -0.1235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.39 0.28 182 ENSG00000183604 LOC595101 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3916368 rs3916368 rs3916368 rs3916368 1 1538 10 1/0 0,255,255 +. 16 30299998 C T - SMG1P5 49862 SMG1P5, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 5 NR_002453.5 -1 2367 0 substitution exon GRCh37 30299998 30299998 Chr16(GRCh37):g.30299998C>T 1709 1709 NR_002453.5:n.1709G>A 11 109 3' 89.3066 11.0173 0.974591 9.72696 89.3066 11.0173 0.974591 9.72696 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 1.000 3.918 255 PASS . . . . . . . . . . . . . . . . 0.5652174 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 46.0 . . . . . . . . . . 1.0083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.69 0.5 182 ENSG00000183604 LOC595101 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71270118 rs71270118 rs71270118 1 1538 10 1/0 0,255,255 +. 16 31089158 A C - ZNF646 29004 Zinc finger protein 646 NM_014699.3 1 6208 5499 NP_055514.3 substitution missense exon GRCh37 31089158 31089158 Chr16(GRCh37):g.31089158A>C 1513 1513 NM_014699.3:c.1513A>C p.Met505Leu p.Met505Leu 2 1592 3' 77.1222 X.26 0.94624 XI.07 77.1222 X.26 0.94624 XI.07 0 Zinc finger, C2H2 Zinc finger, C2H2-like transversion A C A>C 0.961 1.658 M Met ATG 1.000 L Leu CTG 0.404 505 6 6 Little brown bat 2 2 3 0 0 5.VII 4.IX 105 111 15 C0 0.00 14.30 Deleterious 0 IV.32 bad 2.116E-3 7.949E-5 176 PASS . . . . . . . . . . . . . ZNF646:NM_014699:exon2:c.A1513C:p.M505L . . 0.10569106 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.348 . . 123.0 . . . . . . . . . . -0.0501 0.136 -0.050 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.267 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000167395 ZNF646 ZNF646 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.182 0.007 . . 37 . 0.165 . . 0.139 . . . 0.045 0.267 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.318 . . 0 0 0 0 0 0 . 0.335 . . 0.312 . . . . . . 0 0.327 . . . . . 0.695 . 0.614 . LowAF 0.16 . . . . . . . . . . . . . 14.8075 . . V.63 V.63 . 0.220000 O15015-2 . . . . . 0.506 . . V.63 . . . . . . . . . . . . . . . . . . . 0.522 . 2.142 2.142000 . . 0.220000 . . 1.0E-176 0.455 0.264 . 0.604 0.998 . 0.312 . 0.960 2.142 1.062 . . . . . 1 1538 10 1.I 0,0,0 +rs147914949 16 31155064 C T - PRSS36 26906 Protease, serine, 36 NM_173502.4 -1 2839 2568 NP_775773.2 Q5K4E3 substitution missense exon GRCh37 31155064 31155064 Chr16(GRCh37):g.31155064C>T 815 815 NM_173502.4:c.815G>A p.Arg272His p.Arg272His 7 610560 95 3' 76.3902 3.60545 0.310362 2.80321 76.3902 3.60545 0.310362 2.80321 0 Peptidase S1/S6, chymotrypsin/Hap Peptidase S1A, polyserase-2 rs147914949 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000158 0.000000 0.000000 0.000158 20 0 0 0 0 0 20 0 0 277158 24016 34420 10150 18866 30782 126664 25792 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 0 0 0 20 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4394 12993 1 0 1 0.000116279 0 7.69586e-05 0.000116279 0 7.69586e-05 55 transition G A G>A 0.638 0.528 R Arg CGC 0.190 H His CAC 0.587 272 12 12 Fruitfly 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C25 0.00 28.82 Deleterious 0 III.43 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5113636 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.928 . @ . . . . . 1 1.000 . . 176.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.0786 0.060 0.079 c . . . . . 8.682e-05 . . . 0 9.941e-05 0 0 0 0.0002 0 0 0 6.593e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.895 . . exonic exonic exonic . . 0.354 0.0002 . . . 0.36 0.49 182 ENSG00000178226 PRSS36 PRSS36 . . . 1.000 0.473 . 5 7.69515e-05 64976 4 6.66822e-05 59986 Uncertain_significance . 0 . . . . . . D 0.809 0.127 . . 37 . 0.881 . . 0.816 . . . 0.234 0.288 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.639 . . 0 0 0 0 0 0 . 0.899 . . 0.759 . . . . . . 0 0.546 . . . . . 0.389 . 0.528 . HET 0.01 rs147914949 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 IX.93 0.0 . V.14 III.17 . 0.030000 . . . . 0.000077 . 0.161 . . III.17 0 7.31e-05 0 0 0 0 0.0002 0 0 0 6.467e-05 0 0 0 0 0.0001 0 . . 0.331 . 2.401 2.401000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.604 0.850 . 0.126 . 0.490 2.401 0.033 0.0013 . . rs147914949 rs147914949 1 1538 10 1/0 0,238,255 +rs768149995 16 31503416 G A - C16orf58 25848 Chromosome 16 open reading frame 58 NM_022744.3 -1 2813 1407 NP_073581.2 Q96GQ5 substitution intron GRCh37 31503416 31503416 Chr16(GRCh37):g.31503416G>A 1232-9 1232-9 NM_022744.3:c.1232-9C>T p.? p.? 12 11 -9 3' 73.8213 6.82357 0.691833 5.85324 76.5331 6.85564 0.719442 6.22683 0.0271145 Cryptic Acceptor Weakly Activated 31503407 6.82357 0.691833 73.8213 6.85564 0.719442 76.5331 rs768149995 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000102 0.000000 0.000033 0.000000 0.000000 0.000000 0.000102 2 0 0 1 0 1 0 0 0 245902 15252 33552 9844 17230 30766 111506 22280 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition C T C>T 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.51724136 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.3082 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0 0 0 0 6.093e-05 0 9.471e-06 0 0 0 0 0 6.127e-05 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000140688 C16orf58 C16orf58 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs768149995 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.133e-06 0 0.0001 0 0 0 0 3.25e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs768149995 16 31503416 G A - SLC5A2 11037 Solute carrier family 5 (sodium/glucose cotransporter), member 2 NM_003041.3 1 2273 2019 NP_003032.1 P31639 substitution downstream GRCh37 31503416 31503416 Chr16(GRCh37):g.31503416G>A *1560 *1560 NM_003041.3:c.*1560G>A p.? p.? 14 182381 1787 3' 83.5829 6.06345 0.788653 IV.69 83.5829 6.06345 0.788653 IV.69 0 New Acceptor Site 31503418 0.557334 0.234775 69.8646 rs768149995 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000102 0.000000 0.000033 0.000000 0.000000 0.000000 0.000102 2 0 0 1 0 1 0 0 0 245902 15252 33552 9844 17230 30766 111506 22280 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition G A G>A 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.51724136 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.3082 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0 0 0 0 6.093e-05 0 9.471e-06 0 0 0 0 0 6.127e-05 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000140688 C16orf58 C16orf58 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs768149995 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.133e-06 0 0.0001 0 0 0 0 3.25e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs75838055 (chr16:32399522 A/G) 16 32399522 A G Not on a known gene +rs370683157 (chr16:32487123 T/C) 16 32487123 T C Not on a known gene +. 16 32687050 G A - TP53TG3 30759 TP53 target 3 NM_016212.4 -1 1431 375 NP_057296.1 substitution intron GRCh37 32687050 32687050 Chr16(GRCh37):g.32687050G>A 362+7 362+7 NM_016212.4:c.362+7C>T p.? p.? 1 1 617482 7 5' 81.9786 X.32 0.94557 7.57344 81.9786 X.32 0.860996 6.63248 -0.0298141 Cryptic Acceptor Weakly Activated 32687042 0.185671 72.4814 0.245972 0.201908 74.2912 transition C T C>T 0.134 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000260974 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 32687050 G A - TP53TG3B 37202 TP53 target 3B NM_001099687.3 -1 1431 375 NP_001093157.1 substitution intron GRCh37 32687050 32687050 Chr16(GRCh37):g.32687050G>A 362+7 362+7 NM_001099687.3:c.362+7C>T p.? p.? 1 1 7 5' 81.9786 X.32 0.94557 7.57344 81.9786 X.32 0.860996 6.63248 -0.0298141 Cryptic Acceptor Weakly Activated 32687042 0.185671 72.4814 0.245972 0.201908 74.2912 transition C T C>T 0.134 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000260974 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 32687050 G A - TP53TG3C 42962 TP53 target 3C NM_001205259.2 -1 869 375 NP_001192188.1 substitution intron GRCh37 32687050 32687050 Chr16(GRCh37):g.32687050G>A 362+7 362+7 NM_001205259.2:c.362+7C>T p.? p.? 1 1 7 5' 81.9786 X.32 0.94557 7.57344 81.9786 X.32 0.860996 6.63248 -0.0298141 Cryptic Acceptor Weakly Activated 32687042 0.185671 72.4814 0.245972 0.201908 74.2912 transition C T C>T 0.134 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000260974 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 32687050 G A - TP53TG3F 51817 TP53 target 3 family member F NM_001330066.1 -1 1411 375 NP_001316995.1 substitution intron GRCh37 32687050 32687050 Chr16(GRCh37):g.32687050G>A 362+7 362+7 NM_001330066.1:c.362+7C>T p.? p.? 1 1 7 5' 81.9786 X.32 0.94557 7.57344 81.9786 X.32 0.860996 6.63248 -0.0298141 Cryptic Acceptor Weakly Activated 32687042 0.185671 72.4814 0.245972 0.201908 74.2912 transition C T C>T 0.134 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000260974 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr16:32758892 A/G) 16 32758892 A G Not on a known gene +. (chr16:32758968 A/G) 16 32758968 A G Not on a known gene +. (chr16:32758994 G/A) 16 32758994 G A Not on a known gene +. (chr16:32759026 A/G) 16 32759026 A G Not on a known gene +. (chr16:32759050 G/T) 16 32759050 G T Not on a known gene +rs188338999 (chr16:32928769 T/C) 16 32928769 T C Not on a known gene +rs62046810 (chr16:32938713 G/A) 16 32938713 G A Not on a known gene +. (chr16:32939061 A/G) 16 32939061 A G Not on a known gene +rs796361457 (chr16:33021084 T/C) 16 33021084 T C Not on a known gene +. (chr16:33021241 G/C) 16 33021241 G C Not on a known gene +. (chr16:33134000 C/A) 16 33134000 C A Not on a known gene +. (chr16:33134024 T/C) 16 33134024 T C Not on a known gene +. (chr16:33134056 C/T) 16 33134056 C T Not on a known gene +. (chr16:33134082 T/C) 16 33134082 T C Not on a known gene +. (chr16:33134158 T/C) 16 33134158 T C Not on a known gene +. (chr16:33410693 A/G) 16 33410693 A G Not on a known gene +rs4247491 (chr16:33534128 G/C) 16 33534128 G C Not on a known gene +rs4247492 (chr16:33534161 T/C) 16 33534161 T C Not on a known gene +. (chr16:33534194 C/CA) 16 33534194 C CA Not on a known gene +rs146867572 (chr16:33534198 C/A) 16 33534198 C A Not on a known gene +rs75274563 (chr16:33534205 T/C) 16 33534205 T C Not on a known gene +rs111304289 (chr16:33534209 T/A) 16 33534209 T A Not on a known gene +rs74015084 (chr16:33534212 C/T) 16 33534212 C T Not on a known gene +. (chr16:33728555 T/C) 16 33728555 T C Not on a known gene +. (chr16:33728903 C/T) 16 33728903 C T Not on a known gene +rs75018044 (chr16:33953884 T/G) 16 33953884 T G Not on a known gene +rs62026837 (chr16:33953964 G/A) 16 33953964 G A Not on a known gene +. 16 33961109 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961109 33961109 Chr16(GRCh37):g.33961109A>G 1395 1395 NR_038368.1:n.1395T>C 1 rs968299173 no no 0 A 0.000000 0 transition T C T>C 0.039 0.125 215 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1332C:p.N444N . . . 0.2 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N465|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 33961132 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961132 33961132 Chr16(GRCh37):g.33961132C>T 1372 1372 NR_038368.1:n.1372G>A 1 rs1033064640 no no 0 C 0.000000 0 0.000013 0.000138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000138 2 2 0 0 0 0 0 0 0 153796 14492 24452 8158 11458 22442 59552 8788 4454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -1.489 196 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1309A:p.A437T . . . 0.15068494 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A458T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0.0002 8.122e-06 0 0 0 0 0 0 0 0.0001 3.26e-05 0 0 0 0 0 0 . . . . -1.495 -1.495000 . . . . . 1.0E-196 . . . . . . . . . -1.495 . . . . . . 1 1538 10 1/0 0,244,255 +rs80040038 16 33961138 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961138 33961138 Chr16(GRCh37):g.33961138A>C 1366 1366 NR_038368.1:n.1366T>G 1 rs80040038 no no 0 A 0.000000 0 transversion T G T>G 0.000 -1.732 213 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1303G:p.L435V . . . 0.19480519 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Gtg|L456V|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.4040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.41 0.16 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80040038 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.839 -1.839000 . . . . . 1.0E-213 . . . . . . . . . -1.839 . . . . rs80040038 rs80040038 1 1538 10 1/0 0,246,255 +rs62028806 16 33961159 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961159 33961159 Chr16(GRCh37):g.33961159A>G 1345 1345 NR_038368.1:n.1345T>C 1 rs62028806 yes no Frequency 1 A 0.000000 0 0.000013 0.000140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000140 2 2 0 0 0 0 0 0 0 153172 14242 24438 8148 11428 22442 59358 8684 4432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.570 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1282C:p.S428P . . . 0.4074074 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 81.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S449P|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3077 . . . . . . . . 6.484e-05 . . . 0.0053 9.398e-05 0 0 0 0 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.35 0.17 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028806 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0002 6.649e-05 0 0 0 0 0 0 . . . . -1.555 -1.555000 . . . . . 1.0E-255 . . . . . . . . . -1.555 . . rs62028806 rs62028806 rs62028806 rs62028806 1 1538 10 1/0 0,255,255 +rs74349926 16 33961169 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961169 33961169 Chr16(GRCh37):g.33961169A>G 1335 1335 NR_038368.1:n.1335T>C 1 rs74349926 yes no Frequency 1 G 0.000000 0 0.000020 0.000149 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000149 3 2 0 0 0 0 1 0 0 151334 13464 24378 8138 11298 22440 58762 8460 4394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -2.135 232 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1272C:p.G424G . . . 0.24657534 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G445|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6040 . . . . . . . . 6.392e-05 . . . 0.0053 9.393e-05 0 0 0 0 0 0 . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.13 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74349926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 0.0001 0 0 0 0 7.124e-05 0 . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . rs74349926 rs74349926 1 1538 10 1/0 0,254,255 +rs72806338 16 33961201 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961201 33961201 Chr16(GRCh37):g.33961201A>C 1303 1303 NR_038368.1:n.1303T>G 1 rs72806338 yes no Frequency/1000G 2 A 0.000000 0 transversion T G T>G 0.008 -1.328 206 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1240G:p.S414A . . . 0.17567568 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 74.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Gca|S435A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.13 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72806338 . . . . . . . . . . . . . . ENST00000539813 0.514 -1.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.304 -1.304000 . . . . . 1.0E-206 . . . . . . . . . -1.304 . . . rs72806338 rs72806338 rs72806338 1 1538 10 1/0 0,246,255 +rs62028809 16 33961254 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961254 33961254 Chr16(GRCh37):g.33961254G>T 1250 1250 NR_038368.1:n.1250C>A 1 rs62028809 no no 0 G 0.000000 0 transversion C A C>A 0.012 -0.682 182 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1187A:p.P396H . . . 0.11811024 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P417H|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.0492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.31 0.2 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62028809 . . . . . . . . . . . . . . ENST00000539813 0.356 -0.711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.702 -0.702000 . . . . . 1.0E-182 . . . . . . . . . -0.702 . . rs62028809 rs62028809 rs62028809 rs62028809 1 1538 10 1/0 0,217,255 +rs62028810 16 33961265 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961265 33961265 Chr16(GRCh37):g.33961265A>G 1239 1239 NR_038368.1:n.1239T>C 1 rs62028810 yes no Frequency 1 G 0.000000 0 0.000015 0.000000 0.000000 0.000000 0.000101 0.000000 0.000020 0.000000 0.000000 0.000101 2 0 0 0 1 0 1 0 0 130142 6432 23694 8054 9896 22332 50762 5334 3638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.012 -2.700 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1176C:p.G392G . . . 0.37762237 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G413|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8149 . . . . . . . . 3.720e-03 . . . 0.0104 0.0005 0 0 0.5 0.0008 0 0 0.0053 0.0003 0 0 0.5 0.0004 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.31 0.2 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0003 0 0 0.0135 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62028810 rs62028810 rs62028810 rs62028810 1 1538 10 1/0 0,232,255 +. 16 33961270 CTG C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 deletion exon GRCh37 33961271 33961272 Chr16(GRCh37):g.33961271_33961272del 1232 1233 NR_038368.1:n.1232_1233del 1 rs151190439 no no 0 0.000000 0 CA 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.1169_1170del:p.T390fs . . . 0.23703703 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 135 . . FRAME_SHIFT(HIGH||||LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151190439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs151190439 rs151190439 1 1538 10 1.I 0,9,63 +rs371701506 16 33961323 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961323 33961323 Chr16(GRCh37):g.33961323G>C 1181 1181 NR_038368.1:n.1181C>G 1 rs371701506 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.039 0.367 101 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1118G:p.P373R . . . 0.10273973 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 292.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P394R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs371701506 . . . . . . . . . . . . . . ENST00000539813 0.337 0.337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.409 0.409000 . . . . . 1.0E-101 . . . . . . . . . 0.409 . . . . rs371701506 rs371701506 1 1538 10 1/0 0,185,255 +. 16 33961324 G GC - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 duplication exon GRCh37 33961324 33961325 Chr16(GRCh37):g.33961325dup 1179 1179 NR_038368.1:n.1179dup 1 rs75001436 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.1116dupG:p.P373fs . . . 0.45117846 . . . 134 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 297 . . FRAME_SHIFT(HIGH||||LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75001436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75001436 rs75001436 1 1538 10 1.I 0,12,35 +rs62028811 16 33961334 T C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961334 33961334 Chr16(GRCh37):g.33961334T>C 1170 1170 NR_038368.1:n.1170A>G 1 rs62028811 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A1107G:p.L369L . . . 0.50763357 . . @ 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 262.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L390|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.3 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028811 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62028811 rs62028811 rs62028811 rs62028811 1 1538 10 1/0 0,215,224 +. 16 33961346 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961346 33961346 Chr16(GRCh37):g.33961346G>C 1158 1158 NR_038368.1:n.1158C>G 1 transversion C G C>G 0.000 0.125 182 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1095G:p.A365A . . . 0.11666667 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcG|A386|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.1912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +. 16 33961349 T G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961349 33961349 Chr16(GRCh37):g.33961349T>G 1155 1155 NR_038368.1:n.1155A>C 1 transversion A C A>C 0.000 -0.279 183 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A1092C:p.A364A . . . 0.11931818 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcA/gcC|A385|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +. 16 33961351 C CGGCCG - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 insertion exon GRCh37 33961351 33961352 Chr16(GRCh37):g.33961351_33961352insGGCCG 1152 1153 NR_038368.1:n.1152_1153insCGGCC 1 CGGCC 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.1089_1090insCGGCC:p.A364fs . . . 0.11731844 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 179 . . FRAME_SHIFT(HIGH||||LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,93 +. 16 33961355 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961355 33961355 Chr16(GRCh37):g.33961355A>G 1149 1149 NR_038368.1:n.1149T>C 1 transition T C T>C 0.000 -0.198 182 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1086C:p.A362A . . . 0.11797753 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A383|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +. 16 33961366 T TGCGC - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 insertion exon GRCh37 33961366 33961367 Chr16(GRCh37):g.33961366_33961367insGCGC 1137 1138 NR_038368.1:n.1137_1138insGCGC 1 GCGC 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.1074_1075insGCGC:p.T359fs . . . 0.109947644 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 191 . . FRAME_SHIFT(HIGH||||LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,96 +. 16 33961375 T C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961375 33961375 Chr16(GRCh37):g.33961375T>C 1129 1129 NR_038368.1:n.1129A>G 1 transition A G A>G 0.000 -0.279 181 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A1066G:p.T356A . . . 0.1160221 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 181.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|T377A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . III.98 . ENST00000539813 0.705 -1.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.230 -0.230000 . . . . . 1.0E-181 . . . . . . . . . -0.230 . . . . . . 1 1538 10 1/0 0,202,255 +rs77172352 16 33961379 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961379 33961379 Chr16(GRCh37):g.33961379G>C 1125 1125 NR_038368.1:n.1125C>G 1 rs77172352 yes no Frequency 1 G 0.000000 0 0.000243 0.000000 0.000084 0.000000 0.002967 0.000000 0.000018 0.000000 0.000000 0.002967 34 0 2 0 31 0 1 0 0 140004 9346 23930 8122 10448 22336 55866 6032 3924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 0 2 0 31 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -2.054 184 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1062G:p.D354E . . . 0.1491228 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 342.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D375E|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3396 . . . . . . . . 1.079e-04 . . . . . . . . . . . 0 9.434e-05 0 0.0074 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.22 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77172352 . . . . . . . . . . . . 2.0158 . ENST00000539813 0.705 -1.41 . . . . . . . . . . . . 0 0.0002 8.472e-05 0 0.0027 0 2.167e-05 0 0 0 0.0003 0 0 0.0065 0 0 0 . . . . -2.026 -2.026000 . . . . . 9.999999999999999E-185 . . . . . . . . . -2.026 . . . . rs77172352 rs77172352 1 1538 10 1/0 0,178,255 +rs76955817 16 33961382 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961382 33961382 Chr16(GRCh37):g.33961382C>T 1122 1122 NR_038368.1:n.1122G>A 1 rs76955817 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16700 4202 324 276 778 0 9898 772 450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 232 Genomes transition G A G>A 0.000 -2.700 194 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1059A:p.P353P . . . 0.14492753 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 345.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P374|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.29 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76955817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs76955817 rs76955817 1 1538 10 1/0 0,176,255 +rs766968812 16 33961393 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961393 33961393 Chr16(GRCh37):g.33961393C>T 1111 1111 NR_038368.1:n.1111G>A 1 rs766968812 yes no Frequency 1 C 0.000000 0 0.000057 0.000000 0.000000 0.000000 0.000000 0.000273 0.000022 0.000000 0.000000 0.000273 7 0 0 0 0 6 1 0 0 122860 5926 23266 7706 9728 21972 45684 5088 3490 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes transition G A G>A 0.004 0.125 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1048A:p.G350S . . . 0.3286517 . . @ 117 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 356.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G371S|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8227 . . . . . . . . 2.487e-04 . . . 0 0.0003 0 0 . 0 0 0.0004 0 0.0003 0 0 . 0 0 0.0004 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs766968812 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 5.698e-05 0 0 0 0 2.189e-05 0 0.0003 . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0E-255 . . . . . . . . . 0.119 . . rs11541261 rs11541261 . . 1 1538 10 1/0 0,199,247 +rs199599611 16 33961395 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961395 33961395 Chr16(GRCh37):g.33961395G>C 1109 1109 NR_038368.1:n.1109C>G 1 rs199599611 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -1.732 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1046G:p.A349G . . . 0.45405406 . . @ 168 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 370.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gGg|A370G|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.35 0.3 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199599611 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.702 -1.702000 . . . . . 1.0E-255 . . . . . . . . . -1.702 . . . . rs199599611 rs199599611 1 1538 10 1/0 0,208,233 +rs200479697 16 33961402 T C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961402 33961402 Chr16(GRCh37):g.33961402T>C 1102 1102 NR_038368.1:n.1102A>G 1 rs200479697 no no 0 T 0.000000 0 transition A G A>G 0.004 0.125 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A1039G:p.S347G . . . 0.4870317 . . @ 169 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 347.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S368G|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.31 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200479697 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.103 0.103000 . . . . . 1.0E-255 . . . . . . . . . 0.103 . . . . rs200479697 rs200479697 1 1538 10 1/0 0,214,233 +rs767040695 16 33961408 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961408 33961408 Chr16(GRCh37):g.33961408C>T 1096 1096 NR_038368.1:n.1096G>A 1 rs767040695 no no 0 C 0.000000 0 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1033A:p.A345T . . . 0.45762712 . . @ 162 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 354.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A366T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs767040695 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0E-255 . . . . . . . . . 0.119 . . . . . . 1 1538 10 1/0 0,211,236 +rs749895601 16 33961428 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961428 33961428 Chr16(GRCh37):g.33961428C>G 1076 1076 NR_038368.1:n.1076G>C 1 rs749895601 no no 0 C 0.000000 0 0.000072 0.000132 0.001412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001412 2 1 1 0 0 0 0 0 0 27652 7604 708 298 1346 0 13824 2998 874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 127 Genomes transversion G C G>C 0.004 0.125 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1013C:p.R338T . . . 0.32994923 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 394.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aCg|R359T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749895601 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.233e-05 0.0014 0 0 0 0 0 . . . . 0.119 0.119000 . . . . . 1.0E-255 . . . . . . . . . 0.119 . . . . . . 1 1538 10 1/0 0,189,250 +rs796823411 16 33961431 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961431 33961431 Chr16(GRCh37):g.33961431A>C 1073 1073 NR_038368.1:n.1073T>G 1 rs796823411 no no 0 A 0.000000 0 transversion T G T>G 0.000 -1.812 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1010G:p.L337R . . . 0.34048256 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 373.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cGc|L358R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.4329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.869 -1.869000 . . . . . 1.0E-255 . . . . . . . . . -1.869 . . . . . . 1 1538 10 1/0 0,193,252 +rs755768985 16 33961432 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961432 33961432 Chr16(GRCh37):g.33961432G>C 1072 1072 NR_038368.1:n.1072C>G 1 rs755768985 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 0.125 254 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1009G:p.L337V . . . 0.3172589 . . @ 125 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 394.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Gtc|L358V|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755768985 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0000000000000001E-254 . . . . . . . . . 0.119 . . . . . . 1 1538 10 1/0 0,188,253 +rs779516654 16 33961436 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961436 33961436 Chr16(GRCh37):g.33961436C>T 1068 1068 NR_038368.1:n.1068G>A 1 rs779516654 no no 0 C 0.000000 0 transition G A G>A 0.000 -1.489 246 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1005A:p.L335L . . . 0.29107982 . . @ 124 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 426.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L356|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779516654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,254 +rs749721852 16 33961437 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961437 33961437 Chr16(GRCh37):g.33961437A>C 1067 1067 NR_038368.1:n.1067T>G 1 rs749721852 no no 0 A 0.000000 0 transversion T G T>G 0.004 0.125 253 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1004G:p.L335R . . . 0.31358024 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 405.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L356R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749721852 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.103 0.103000 . . . . . 1.0E-253 . . . . . . . . . 0.103 . . . . . . 1 1538 10 1/0 0,186,251 +rs755265192 16 33961439 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961439 33961439 Chr16(GRCh37):g.33961439C>T 1065 1065 NR_038368.1:n.1065G>A 1 rs755265192 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30658 8560 830 302 1616 0 14922 3454 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 107 Genomes transition G A G>A 0.012 0.125 246 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1002A:p.S334S . . . 0.2897196 . . @ 124 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 428.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S355|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.3872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755265192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,251 +rs74375516 16 33961444 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961444 33961444 Chr16(GRCh37):g.33961444G>A 1060 1060 NR_038368.1:n.1060C>T 1 rs74375516 yes no Frequency 1 G 0.000000 0 0.000110 0.000000 0.000043 0.000000 0.001217 0.000000 0.000000 0.000000 0.000280 0.001217 14 0 1 0 12 0 0 0 1 127276 6124 23388 7940 9864 22402 48754 5230 3574 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 1 0 12 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 60 Exomes transition C T C>T 0.012 0.044 199 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C997T:p.R333W . . . 0.15704387 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 433.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R354W|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8002 . . . . . . . . 4.006e-04 . . . 0 0.0002 0 0 0 0 0 0.0003 0 0.0002 0 0 0 0 0 0.0003 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.39 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74375516 0.033 0.029 . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 0.0001 4.276e-05 0 0.0012 0 0 0.0003 0 . . . . . . . . . . . . 0.064 0.064000 . . . . . 1.0E-199 . . . . . . . . . 0.064 . 0.033 . . rs74375516 rs74375516 1 1538 10 1/0 0,168,252 +rs77612534 16 33961448 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961448 33961448 Chr16(GRCh37):g.33961448C>T 1056 1056 NR_038368.1:n.1056G>A 1 rs77612534 no no 0 C 0.000000 0 transition G A G>A 0.008 0.125 207 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G993A:p.R331R . . . 0.17763157 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 456.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R352|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.1127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77612534 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . 0.022 . . rs77612534 rs77612534 1 1538 10 1/0 0,167,244 +rs77704900 16 33961464 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961464 33961464 Chr16(GRCh37):g.33961464C>T 1040 1040 NR_038368.1:n.1040G>A 1 rs77704900 yes no Frequency 1 C 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 127778 6126 23560 7962 9840 22424 49080 5196 3590 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 54 Exomes transition G A G>A 0.000 0.125 207 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G977A:p.R326H . . . 0.17763157 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 456.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R347H|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7948 . . . . . . . . 5.012e-05 . . . 0 8.475e-05 0 0 0 0.0003 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.34 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77704900 0.011 0.014 . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 7.826e-06 0 0 0 0 2.037e-05 0 0 . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0E-207 . . . . . . . . . 0.119 . 0.011 . . rs77704900 rs77704900 1 1538 10 1/0 0,167,249 +rs137972467 16 33961471 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961471 33961471 Chr16(GRCh37):g.33961471C>G 1033 1033 NR_038368.1:n.1033G>C 1 rs137972467 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.004 0.448 148 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G970C:p.V324L . . . 0.19318181 . . @ 85 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 440.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V345L|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.34 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.029 . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.445 0.445000 . . . . . 1.0E-148 . . . . . . . . . 0.445 . 0.022 . . . . 1 1538 10 1/0 0,175,245 +rs75351386 16 33961475 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961475 33961475 Chr16(GRCh37):g.33961475G>A 1029 1029 NR_038368.1:n.1029C>T 1 rs75351386 yes no Frequency/1000G 2 G 0.000000 0 0.000022 0.000000 0.000092 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000092 3 0 2 0 0 0 1 0 0 135300 12434 21656 6740 10336 18462 54634 7134 3904 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.020 0.448 203 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C966T:p.N322N . . . 0.17873304 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 442.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N343|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . 0.0632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0014 . . . 0.33 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75351386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.985e-06 4.75e-05 0 0 0 0 0 0 0 8.333e-05 0.0017 0 0 0 8.331e-05 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs75351386 rs75351386 1 1538 10 1/0 0,169,251 +rs77649457 16 33961570 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961570 33961570 Chr16(GRCh37):g.33961570G>C 934 934 NR_038368.1:n.934C>G 1 rs77649457 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -1.086 216 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C871G:p.R291G . . . 0.22340426 . . @ 105 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 470.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R312G|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.1867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.34 0.1 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77649457 . . . . . . . . . . . . . . ENST00000539813 0.113 -0.226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.114 -1.114000 . . . . . 1.0E-216 . . . . . . . . . -1.114 . . . . rs77649457 rs77649457 1 1538 10 1/0 0,171,245 +rs77295773 16 33961572 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961572 33961572 Chr16(GRCh37):g.33961572G>A 932 932 NR_038368.1:n.932C>T 1 rs77295773 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.000 0.205 217 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C869T:p.P290L . . . 0.20305677 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 458.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P311L|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.11 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77295773 . . . . . . . . . . . . . . ENST00000539813 0.113 0.113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.183 0.183000 . . . . . 1.0E-217 . . . . . . . . . 0.183 . . . . rs77295773 rs77295773 1 1538 10 1/0 0,170,250 +rs111958693 16 33961581 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961581 33961581 Chr16(GRCh37):g.33961581G>A 923 923 NR_038368.1:n.923C>T 1 rs111958693 yes no Frequency 1 G 0.000000 0 0.000071 0.000163 0.000000 0.000140 0.000000 0.000000 0.000068 0.000412 0.000000 0.000412 10 2 0 1 0 0 4 3 0 141132 12246 21940 7124 10312 19796 58408 7280 4026 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 1 0 0 3 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.004 -1.167 114 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C860T:p.T287M . . . 0.29054055 . . @ 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 444.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T308M|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.1627 . . . . . . . . 3.118e-03 . . . 0 0.0072 0 0 0 0.0085 0 0.0076 0 0.0079 0 0 0 0.0110 0 0.0076 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.34 0.1 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111958693 . . . . . . . . . . . . . . ENST00000539813 0.113 -0.226 . . . . . . . . . . . . 0 5.92e-05 0 0.0001 0 0.0006 6.405e-05 0 0 0.0003 0.0001 0 0 0 0 8.645e-05 0 . . . . -1.200 -1.200000 . . . . . 1.0E-114 . . . . . . . . . -1.200 . . . . rs111958693 rs111958693 1 1538 10 1/0 0,198,233 +rs77800732 16 33961606 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961606 33961606 Chr16(GRCh37):g.33961606C>T 898 898 NR_038368.1:n.898G>A 1 rs77800732 no no 0 T 0.000000 0 transition G A G>A 0.000 -2.781 229 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G835A:p.E279K . . . 0.23809524 . . @ 110 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 462.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E300K|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.6628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.31 0.13 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77800732 . . . . . . . . . . . . . . ENST00000539813 0.113 -0.226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.816 -2.816000 . . . . . 1.0E-229 . . . . . . . . . -2.816 . . . . rs77800732 rs77800732 1 1538 10 1/0 0,173,244 +rs375929052 16 33961634 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961634 33961634 Chr16(GRCh37):g.33961634G>A 870 870 NR_038368.1:n.870C>T 1 rs375929052 yes no Frequency 1 G 0.000000 0 0.000031 0.000342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000342 5 5 0 0 0 0 0 0 0 162446 14606 24518 8290 11500 22654 67390 8872 4616 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.167 228 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C807T:p.H269H . . . 0.23696682 . . @ 100 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 422.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H290|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4395 . . . . . . . . 2.133e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375929052 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.011 . . rs375929052 rs375929052 1 1538 10 1/0 0,177,251 +rs76218310 16 33961684 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961684 33961684 Chr16(GRCh37):g.33961684G>T 820 820 NR_038368.1:n.820C>A 1 rs76218310 no no 0 G 0.000000 0 transversion C A C>A 0.000 0.125 237 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C757A:p.P253T . . . 0.26347306 . . @ 88 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 334.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P274T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.16 182 . LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76218310 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0E-237 . . . . . . . . . 0.119 . . . . rs76218310 rs76218310 1 1538 10 1/0 0,190,255 +rs79605728 16 33961691 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961691 33961691 Chr16(GRCh37):g.33961691G>A 813 813 NR_038368.1:n.813C>T 1 rs79605728 yes no Frequency 1 G 0.000000 0 0.002828 0.007594 0.003551 0.000364 0.002078 0.002307 0.002416 0.002532 0.001050 0.007594 505 110 87 3 27 54 194 25 5 178564 14486 24498 8232 12992 23410 80310 9872 4764 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 505 110 87 3 27 54 194 25 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 0.125 244 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C750T:p.P250P . . . 0.28431374 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 306.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P271|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.1969 . . . . . . . . 8.455e-03 . . . 0.0117 0.0113 0.0301 0.0091 0.0083 0.0098 0.0089 0.0085 0.0152 0.0117 0.0307 0.0095 0.0082 0.0111 0.0044 0.0084 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.13 182 . LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79605728 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0054 0.0026 0.0034 0.0004 0.0017 0.0033 0.0024 0.0010 0.0023 0.0101 0.0043 0.0074 0 0.0049 0.0009 0.0023 0.0011 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . 0.011 . . rs79605728 rs79605728 1 1538 10 1/0 0,196,255 +rs76477119 16 33961898 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961898 33961898 Chr16(GRCh37):g.33961898C>T 606 606 NR_038368.1:n.606G>A 1 rs76477119 no no 0 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 0.000089 2 0 0 0 0 2 0 0 0 122726 5938 23518 7826 9844 22378 44490 5252 3480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Exomes transition G A G>A 0.000 0.609 231 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G543A:p.G181G . . . 0.24752475 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G202|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.0843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.18 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76477119 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.63e-05 0 0 0 0 0 0 8.937e-05 . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . 0.043 . . rs76477119 rs76477119 1 1538 10 1/0 0,239,255 +. 16 33961932 T TGGC - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 duplication exon GRCh37 33961932 33961933 Chr16(GRCh37):g.33961933_33961935dup 569 571 NR_038368.1:n.569_571dup 1 GCC 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.508_509insGCC:p.H170delinsRH . . . 0.14184397 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 141 . . CODON_INSERTION(MODERATE||-/GCC|-191A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,85 +rs80061605 16 33961952 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961952 33961952 Chr16(GRCh37):g.33961952G>T 552 552 NR_038368.1:n.552C>A 1 rs80061605 no no 0 0.000000 0 transversion C A C>A 0.000 -0.440 217 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C489A:p.T163T . . . 0.20408164 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acA|T184|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.15 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80061605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs80061605 rs80061605 1 1538 10 1/0 0,219,255 +rs77505384 16 33961982 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961982 33961982 Chr16(GRCh37):g.33961982G>T 522 522 NR_038368.1:n.522C>A 1 rs77505384 yes no Frequency/1000G 2 0.000000 0 transversion C A C>A 0.000 -1.247 245 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C459A:p.R153R . . . 0.2893082 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R174|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0026 . . . 0.23 0.18 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77505384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . rs77505384 rs77505384 1 1538 10 1/0 0,223,255 +. 16 33962014 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962014 33962014 Chr16(GRCh37):g.33962014A>G 490 490 NR_038368.1:n.490T>C 1 0.000361 0.001923 0.000043 0.000000 0.000302 0.000046 0.000296 0.001927 0.000546 0.001927 47 14 1 0 3 1 15 11 2 130038 7280 23226 7796 9930 21788 50650 5708 3660 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 14 1 0 3 1 15 11 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -2.216 179 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T427C:p.C143R . . . 0.11042945 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 163.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C164R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.4390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . 0 8.463e-06 0 0 0 0 0 0 4.59e-05 0.0072 0.0039 0.0039 0 0.0099 0.0159 0.0019 0.0065 . . . . -2.269 -2.269000 . . . . . 1.0E-179 . . . . . . . . . -2.269 . . . . . . 1 1538 10 1/0 0,206,255 +rs118113598 16 33962058 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962058 33962058 Chr16(GRCh37):g.33962058G>A 446 446 NR_038368.1:n.446C>T 1 rs118113598 yes no Frequency 1 0.000000 0 0.000399 0.002270 0.000507 0.000000 0.000471 0.000105 0.000343 0.000000 0.000649 0.002270 44 11 10 0 4 2 15 0 2 110296 4846 19732 6538 8494 19104 43794 4704 3084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 11 10 0 4 2 15 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.086 205 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C383T:p.A128V . . . 0.17105263 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 152.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A149V|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2854 . . . . . . . . 5.478e-04 . . . 0 0.0001 0 0 . 0.0006 0 0 0 0.0001 0 0 . 0.0007 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.15 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs118113598 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . 0 0.0002 0.0003 0 0.0004 0 0.0001 0.0003 0.0001 0.0092 0.0030 0.0370 0 0.0056 0 0.0015 0.0051 . . . . -1.077 -1.077000 . . . . . 1.0E-205 . . . . . . . . . -1.077 . . . . rs118113598 rs118113598 1 1538 10 1/0 0,215,255 +rs72797471 16 33962078 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962078 33962078 Chr16(GRCh37):g.33962078C>T 426 426 NR_038368.1:n.426G>A 1 rs72797471 yes no Frequency/1000G 2 0.000000 0 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000075 0.000000 0.000000 0.000075 1 0 0 0 0 0 1 0 0 26170 6598 736 290 1218 0 13320 3160 848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 79 Genomes transition G A G>A 0.024 0.448 240 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G363A:p.P121P . . . 0.27419356 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P142|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72797471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.821e-05 0 0 0 0 7.508e-05 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . rs72797471 rs72797471 rs72797471 1 1538 10 1/0 0,233,255 +. 16 33962098 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962098 33962098 Chr16(GRCh37):g.33962098G>A 406 406 NR_038368.1:n.406C>T 1 rs1015016952 no no 0 0.000000 0 0.001346 0.002360 0.000250 0.000224 0.001503 0.000205 0.001740 0.004735 0.001875 0.004735 127 18 4 1 11 3 65 20 5 94332 7628 16032 4462 7320 14644 37356 4224 2666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127 18 4 1 11 3 65 20 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.004 0.448 191 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C343T:p.R115C . . . 0.1368421 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 95.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R136C|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . 0 0.0002 0.0002 0.0002 0.0003 0 0.0001 0 0.0002 0.0033 0.0072 0.0034 0 0.0193 0.0197 0.0076 0.0126 . . . . 0.445 0.445000 . . . . . 1.0E-191 . . . . . . . . . 0.445 . . . . . . 1 1538 10 1/0 0,232,255 +rs78458740 16 33962100 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962100 33962100 Chr16(GRCh37):g.33962100A>C 404 404 NR_038368.1:n.404T>G 1 rs78458740 yes no Frequency/1000G 2 0.000000 0 0.000209 0.000374 0.009091 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.009091 2 1 1 0 0 0 0 0 0 9586 2674 110 226 108 0 6164 136 168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 183 Genomes transversion T G T>G 0.000 -2.135 147 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T341G:p.L114R . . . 0.40449437 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cGc|L135R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.22 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78458740 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0002 0.0091 0 0 0 0 0 . . . . -2.112 -2.112000 . . . . . 1.0E-147 . . . . . . . . . -2.112 . . . . rs78458740 rs78458740 1 1538 10 1/0 0,255,255 +rs368849695 16 33962111 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962111 33962111 Chr16(GRCh37):g.33962111G>A 393 393 NR_038368.1:n.393C>T 1 rs368849695 no no 0 0.000000 0 0.000044 0.000093 0.000057 0.000000 0.000000 0.000000 0.000044 0.000148 0.000000 0.000148 5 1 1 0 0 0 2 1 0 112424 10718 17452 4686 8822 15246 45508 6738 3254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 1 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.763 237 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C330T:p.L110L . . . 0.2658228 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L131|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368849695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.879e-05 6.011e-05 0 0 0.0003 6.53e-05 0 0 0.0001 3.285e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs368849695 rs368849695 1 1538 10 1/0 0,251,255 +rs371518521 16 33962121 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962121 33962121 Chr16(GRCh37):g.33962121G>C 383 383 NR_038368.1:n.383C>G 1 rs371518521 no no 0 0.000000 0 0.000095 0.000000 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000135 1 0 0 0 0 0 1 0 0 10580 1766 200 244 296 0 7414 430 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 152 Genomes transversion C G C>G 0.000 -0.440 231 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C320G:p.A107G . . . 0.24561404 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A128G|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371518521 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . . . . . . . . . . 0 9.452e-05 0 0 0 0 0.0001 0 . . . . -0.461 -0.461000 . . . . . 1.0E-231 . . . . . . . . . -0.461 . . . . rs371518521 rs371518521 1 1538 10 1/0 0,234,255 +rs373343127 16 33962129 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962129 33962129 Chr16(GRCh37):g.33962129C>G 375 375 NR_038368.1:n.375G>C 1 rs373343127 no no 0 0.000000 0 0.001389 0.005241 0.000000 0.000000 0.000000 0.000000 0.000772 0.004149 0.000000 0.005241 12 5 0 0 0 0 5 2 0 8638 954 146 236 128 0 6476 482 216 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 0 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 RF 181 Genomes transversion G C G>C 0.000 -0.440 200 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G312C:p.M104I . . . 0.16091955 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M125I|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.9057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373343127 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . . . . . . . . . . 0.0052 0.0014 0 0 0 0.0041 0.0008 0 . . . . -0.461 -0.461000 . . . . . 1.0E-200 . . . . . . . . . -0.461 . . . . rs373343127 rs373343127 1 1538 10 1/0 0,237,255 +rs79151072 16 33962130 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962130 33962130 Chr16(GRCh37):g.33962130A>G 374 374 NR_038368.1:n.374T>C 1 rs79151072 yes no Frequency/1000G 2 0.000000 0 0.001306 0.007886 0.000000 0.000000 0.000000 0.000000 0.000483 0.008929 0.000000 0.008929 10 5 0 0 0 0 3 2 0 7656 634 84 238 102 0 6214 224 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 5 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 RF 204 Genomes transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T311C:p.M104T . . . 0.60714287 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M125T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79151072 0.228 0.225 . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0013 0 0 0 0.0089 0.0005 0 . . . . -1.118 -1.118000 . . . . . 1.0E-255 . . . . . . . . . -1.118 . 0.23 . . rs79151072 rs79151072 1 1538 10 1/0 0,255,255 +rs116070160 16 33962150 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962150 33962150 Chr16(GRCh37):g.33962150G>T 354 354 NR_038368.1:n.354C>A 1 rs116070160 yes no Frequency/1000G 2 0.000000 0 0.000564 0.010827 0.000093 0.000141 0.000602 0.000049 0.000288 0.001808 0.000000 0.010827 64 33 2 1 5 1 13 9 0 113444 3048 21436 7106 8308 20244 45106 4978 3218 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 33 2 1 5 1 13 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.012 0.448 242 PASS 0.11 0.12 0.14 0.11 0.12 . . . . . . . LINC00273:uc021thl.1:exon1:c.C291A:p.H97Q . . . 0.28037384 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H118Q|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.23 0.18 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116070160 . 0.007 . . . . . 0.11675824175824176 0.10975609756097561 0.1408839779005525 0.10664335664335664 0.11741424802110818 . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . 0 9.37e-06 0 0 0 0 0 0 4.94e-05 0.1435 0.0094 0.0303 0.0042 0.2778 0.18 0.0022 0 . . . . 0.445 0.445000 . . . . . 1.0E-242 . . . . . . . . . 0.445 . 0.14 . . rs116070160 rs116070160 1 1538 10 1/0 0,238,255 +rs555596057 16 33962209 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962209 33962209 Chr16(GRCh37):g.33962209C>T 295 295 NR_038368.1:n.295G>A 1 rs555596057 yes no Frequency 1 0.000000 0 0.000569 0.011726 0.000043 0.000129 0.000428 0.000046 0.000083 0.000972 0.000289 0.011726 70 53 1 1 4 1 4 5 1 123084 4520 23108 7760 9352 21720 48024 5144 3456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 53 1 1 4 1 4 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.086 233 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G232A:p.G78R . . . 0.251497 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 167.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G99R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2490 . . . . . . . . 7.794e-05 . . . 0 0.0001 0 0 . 0 0 0.0001 0 0.0001 0 0 . 0 0 0.0001 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs555596057 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . 0 1.722e-05 0 0 0 0 2.39e-05 0 4.604e-05 0.2172 0.0098 0.0161 0.0039 0.2857 0.4167 0.0005 0.0066 . . . . -1.079 -1.079000 . . . . . 1.0000000000000001E-233 . . . . . . . . . -1.079 . . . . . . 1 1538 10 1/0 0,217,255 +rs79163818 16 33962219 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962219 33962219 Chr16(GRCh37):g.33962219A>G 285 285 NR_038368.1:n.285T>C 1 rs79163818 no no 0 0.000000 0 transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T222C:p.R74R . . . 0.39411765 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgT/cgC|R95|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79163818 0.239 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 . . rs79163818 rs79163818 1 1538 10 1/0 0,228,255 +rs79996437 16 33962223 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962223 33962223 Chr16(GRCh37):g.33962223C>G 281 281 NR_038368.1:n.281G>C 1 rs79996437 yes no Frequency/1000G 2 0.000000 0 0.009720 0.218487 0.014706 0.003906 0.285714 0.000000 0.000640 0.416667 0.006494 0.416667 68 52 1 1 4 0 4 5 1 6996 238 68 256 14 0 6254 12 154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 52 1 1 4 0 4 5 1 0 0 0 0 0 0 0 0 0 RF 423 Genomes transversion G C G>C 0.000 -1.328 255 PASS 0.11 0.12 0.1 0.11 0.13 . . . . . . . LINC00273:uc021thl.1:exon1:c.G218C:p.G73A . . . 0.7663044 . . @ 141 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 184.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G94A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.2 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79996437 . . . . . . . 0.1163003663003663 0.11178861788617886 0.10497237569060773 0.11363636363636363 0.1266490765171504 . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . . . . . . . . . . 0.2185 0.0097 0.0147 0.0039 0.2857 0.4167 0.0006 0.0065 . . . . -1.357 -1.357000 . . . . . 1.0E-255 . . . . . . . . . -1.357 . 0.13 . . rs79996437 rs79996437 1 1538 10 1/0 0,234,229 +rs77325341 16 33962224 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962224 33962224 Chr16(GRCh37):g.33962224C>T 280 280 NR_038368.1:n.280G>A 1 rs77325341 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000046 0.000000 0.000000 0.000000 0.000046 1 0 0 0 0 1 0 0 0 147768 13082 23974 7848 10994 21872 57022 8658 4318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 0.448 246 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G217A:p.G73R . . . 0.29142857 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 175.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G94R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7709 . . . . . . . . 1.497e-04 . . . 0 0.0002 0 0 . 0 0 0.0003 0 0.0002 0 0 . 0 0 0.0003 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77325341 . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . 0 8.556e-06 0 0 0 0 0 0 4.572e-05 0 0 0 0 0 0 0 0 . . . . 0.445 0.445000 . . . . . 1.0E-246 . . . . . . . . . 0.445 . . . . rs77325341 rs77325341 1 1538 10 1/0 0,219,255 +rs115692071 16 33962236 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962236 33962236 Chr16(GRCh37):g.33962236G>T 268 268 NR_038368.1:n.268C>A 1 rs115692071 yes no Frequency/1000G 2 0.000000 0 0.001141 0.034483 0.000000 0.000000 0.000000 0.000000 0.000158 0.055556 0.000000 0.055556 8 6 0 0 0 0 1 1 0 7014 174 66 260 16 0 6326 18 154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 6 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 450 Genomes transversion C A C>A 0.004 -2.135 186 PASS 0.05 0.03 0.01 0.02 0.04 . . . . . . . LINC00273:uc021thl.1:exon1:c.C205A:p.R69R . . . 0.12676056 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 213.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cgg/Agg|R90|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.16 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs115692071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0345 0.0011 0 0 0 0.0556 0.0002 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.05 . . rs115692071 rs115692071 1 1538 10 1/0 0,196,255 +rs77360233 16 33962244 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962244 33962244 Chr16(GRCh37):g.33962244G>A 260 260 NR_038368.1:n.260C>T 1 rs77360233 no no 0 0.000000 0 0.006749 0.205607 0.000000 0.000000 0.000000 0.000000 0.000160 0.333333 0.000000 0.333333 47 44 0 0 0 0 1 2 0 6964 214 66 256 6 0 6264 6 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 44 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 PASS 471 Genomes transition C T C>T 0.008 0.448 223 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C197T:p.A66V . . . 0.22058824 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A87V|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77360233 . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . 0.2056 0.0067 0 0 0 0.3333 0.0002 0 . . . . 0.445 0.445000 . . . . . 1.0E-223 . . . . . . . . . 0.445 . . . . rs77360233 rs77360233 1 1538 10 1/0 0,207,255 +rs74848779 16 33962246 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962246 33962246 Chr16(GRCh37):g.33962246A>G 258 258 NR_038368.1:n.258T>C 1 rs74848779 no no 0 0.000000 0 0.007056 0.205607 0.000000 0.000000 0.000000 0.000000 0.000321 0.375000 0.000000 0.375000 49 44 0 0 0 0 2 3 0 6944 214 66 258 6 0 6240 8 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 44 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 478 Genomes transition T C T>C 0.004 -1.732 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T195C:p.A65A . . . 0.7586207 . . @ 154 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 203.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A86|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74848779 0.337 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2056 0.0071 0 0 0 0.375 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.34 . . rs74848779 rs74848779 1 1538 10 1/0 0,230,225 +rs77557381 16 33962252 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962252 33962252 Chr16(GRCh37):g.33962252C>T 252 252 NR_038368.1:n.252G>A 1 rs77557381 yes no Frequency 1 0.000000 0 transition G A G>A 0.004 0.448 227 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G189A:p.T63T . . . 0.23414634 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 205.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T84|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.3363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77557381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs77557381 rs77557381 1 1538 10 1/0 0,207,255 +rs77668435 16 33962253 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962253 33962253 Chr16(GRCh37):g.33962253G>A 251 251 NR_038368.1:n.251C>T 1 rs77668435 yes no Frequency/1000G 2 0.000000 0 0.000017 0.000000 0.000000 0.000000 0.000000 0.000045 0.000023 0.000000 0.000000 0.000045 2 0 0 0 0 1 1 0 0 119176 4996 23344 7688 9566 22124 42874 5192 3392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 46 Exomes transition C T C>T 0.004 -1.086 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C188T:p.T63M . . . 0.35784313 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T84M|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.18 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77668435 0.380 0.406 . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . 0 1.678e-05 0 0 0 0 2.332e-05 0 4.52e-05 . . . . . . . . . . . . -1.094 -1.094000 . . . . . 1.0E-255 . . . . . . . . . -1.094 . 0.38 . . rs77668435 rs77668435 1 1538 10 1/0 0,218,255 +rs796987541 16 33962254 T C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962254 33962254 Chr16(GRCh37):g.33962254T>C 250 250 NR_038368.1:n.250A>G 1 rs796987541 no no 0 0.000000 0 0.001312 0.041667 0.000000 0.000000 0.000000 0.000000 0.000161 0.333333 0.000000 0.333333 9 6 0 0 0 0 1 2 0 6860 144 66 256 6 0 6230 6 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 6 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 499 Genomes transition A G A>G 0.004 0.367 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A187G:p.T63A . . . 0.4331551 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 187.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|T84A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . 0.0417 0.0013 0 0 0 0.3333 0.0002 0 . . . . 0.374 0.374000 . . . . . 1.0E-255 . . . . . . . . . 0.374 . . . . . . 1 1538 10 1/0 0,228,255 +rs74828231 16 33962255 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962255 33962255 Chr16(GRCh37):g.33962255G>T 249 249 NR_038368.1:n.249C>A 1 rs74828231 no no 0 0.000000 0 0.000433 0.004587 0.000000 0.000000 0.000000 0.000000 0.000161 0.125000 0.000000 0.125000 3 1 0 0 0 0 1 1 0 6928 218 64 254 6 0 6226 8 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 494 Genomes transversion C A C>A 0.004 0.448 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C186A:p.C62X . . . 0.37931034 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 203.0 . . STOP_GAINED(HIGH|NONSENSE|tgC/tgA|C83*|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.21 0.19 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74828231 . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0004 0 0 0 0.125 0.0002 0 . . . . 0.445 0.445000 . . . . . 1.0E-255 . . . . . . . . . 0.445 . . . . rs74828231 rs74828231 1 1538 10 1/0 0,221,255 +rs79594372 16 33962277 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962277 33962277 Chr16(GRCh37):g.33962277G>C 227 227 NR_038368.1:n.227C>G 1 rs79594372 yes no Frequency/1000G 2 0.000000 0 0.000405 0.008449 0.000043 0.000000 0.000105 0.000000 0.000041 0.000578 0.000000 0.008449 51 44 1 0 1 0 2 3 0 125838 5208 23392 7954 9556 22054 48966 5186 3522 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 44 1 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.117 255 PASS 0.29 0.33 0.34 0.38 0.33 . . . . . . . LINC00273:uc021thl.1:exon1:c.C164G:p.T55R . . . 0.37438422 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 203.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T76R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.15 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79594372 . . . . . . . 0.3347069597069597 0.2865853658536585 0.3397790055248619 0.3776223776223776 0.3311345646437995 IV.49 . ENST00000539813 0.694 -0.429 . . . . . . . . . . . . 0 8.404e-06 4.287e-05 0 0 0 0 0 0 0.2037 0.0073 0 0 0.125 0.375 0.0003 0 . . . . -0.100 -0.100000 . . . . . 1.0E-255 . . . . . . . . . -0.100 . 0.38 . . rs79594372 rs79594372 1 1538 10 1/0 0,221,255 +rs78406896 16 33962280 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962280 33962280 Chr16(GRCh37):g.33962280C>T 224 224 NR_038368.1:n.224G>A 1 rs78406896 yes no Frequency 1 0.000000 0 0.000020 0.000219 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000219 3 3 0 0 0 0 0 0 0 149732 13678 24154 7984 11152 22078 57674 8666 4346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G161A:p.R54Q . . . 0.33846155 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 195.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R75Q|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3209 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.13 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78406896 . . . . . . . . . . . . 4.0464 . ENST00000539813 0.694 -1.39 . . . . . . . . . . . . 0.0002 8.413e-06 0 0 0 0 0 0 0 0.0002 6.48e-05 0 0 0 0 0 0 . . . . -0.711 -0.711000 . . . . . 1.0E-255 . . . . . . . . . -0.711 . . . . rs78406896 rs78406896 1 1538 10 1/0 0,219,255 +rs78159351 16 33962281 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962281 33962281 Chr16(GRCh37):g.33962281G>A 223 223 NR_038368.1:n.223C>T 1 rs78159351 no no 0 0.000000 0 transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C160T:p.R54X . . . 0.35643566 . . @ 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 202.0 . . STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R75*|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.29 0.19 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78159351 . . . . . . . . . . . . III.35 . ENST00000539813 0.694 -0.681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.152 -0.152000 . . . . . 1.0E-255 . . . . . . . . . -0.152 . . . . rs78159351 rs78159351 1 1538 10 1/0 0,219,255 +rs78404565 16 33962291 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962291 33962291 Chr16(GRCh37):g.33962291G>A 213 213 NR_038368.1:n.213C>T 1 rs78404565 no no 0 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000053 0.000000 0.000000 0.000053 3 0 0 0 0 0 3 0 0 147592 12930 24024 7958 10934 22030 56826 8590 4300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.570 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C150T:p.R50R . . . 0.39712918 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R71|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.29 0.17 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78404565 0.424 0.435 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.688e-05 0 0 0 0 4.69e-05 0 0 0 3.434e-05 0 0 0 0 7.05e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs78404565 rs78404565 1 1538 10 1/0 0,221,255 +rs72797474 16 33962298 T G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962298 33962298 Chr16(GRCh37):g.33962298T>G 206 206 NR_038368.1:n.206A>C 1 rs72797474 yes no Frequency/1000G 2 0.000000 0 0.000281 0.005993 0.000000 0.000000 0.000000 0.000000 0.000041 0.000580 0.000000 0.005993 35 30 0 0 0 0 2 3 0 124562 5006 23208 7872 9444 21960 48404 5174 3494 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 30 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A C A>C 0.000 -2.458 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A143C:p.N48T . . . 0.8118812 . . @ 164 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 202.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N69T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.4273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.22 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs72797474 0.446 0.457 . . . . . . . . . . II.46 . ENST00000539813 0.971 -1.94 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.1630 0.0053 0 0 0 0.375 0.0003 0 . . . . -2.670 -2.670000 . . . . . 1.0E-255 . . . . . . . . . -2.670 . 0.45 . rs72797474 rs72797474 rs72797474 1 1538 10 1/0 0,233,229 +rs75485770 16 33962320 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962320 33962320 Chr16(GRCh37):g.33962320G>T 184 184 NR_038368.1:n.184C>A 1 rs75485770 yes no Frequency/1000G 2 0.000000 0 0.000132 0.002209 0.000000 0.000000 0.000221 0.000000 0.000043 0.000394 0.000000 0.002209 16 10 0 0 2 0 2 2 0 120920 4526 22794 7606 9064 21538 46926 5072 3394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 10 0 0 2 0 2 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.004 0.851 253 PASS 0.21 0.27 0.29 0.33 0.25 . . . . . . . LINC00273:uc021thl.1:exon1:c.C121A:p.P41T . . . 0.31491712 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 181.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccg/Acg|P62T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.23 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75485770 . . . . . . . 0.2673992673992674 0.20934959349593496 0.292817679558011 0.32867132867132864 0.24670184696569922 V.88 . ENST00000539813 0.971 0.971 . . . . . . . . . . . . 0 8.735e-06 0 0 0.0001 0 0 0 0 0.0694 0.0023 0 0 0.125 0.3333 0.0003 0 . . . . 0.896 0.896000 . . . . . 1.0E-253 . . . . . . . . . 0.896 . 0.33 . . rs75485770 rs75485770 1 1538 10 1/0 0,222,255 +rs76410790 16 33962327 T A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962327 33962327 Chr16(GRCh37):g.33962327T>A 177 177 NR_038368.1:n.177A>T 1 rs76410790 yes no Frequency/1000G 2 0.000000 0 0.002326 0.068493 0.000000 0.000000 0.125000 0.000000 0.000320 0.375000 0.000000 0.375000 16 10 0 0 1 0 2 3 0 6880 146 66 258 8 0 6242 8 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 10 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 531 Genomes transversion A T A>T 0.000 -0.198 255 PASS 0.2 0.25 0.27 0.31 0.22 . . . . . . . LINC00273:uc021thl.1:exon1:c.A114T:p.E38D . . . 0.3625 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 160.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E59D|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.19 0.2 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76410790 . . . . . . . 0.24862637362637363 0.2032520325203252 0.27071823204419887 0.30594405594405594 0.22427440633245382 III.69 . ENST00000539813 0.787 -0.924 . . . . . . . . . . . . . . . . . . . . . 0.0685 0.0023 0 0 0.125 0.375 0.0003 0 . . . . -0.232 -0.232000 . . . . . 1.0E-255 . . . . . . . . . -0.232 . 0.31 . . rs76410790 rs76410790 1 1538 10 1/0 0,232,255 +rs72797475 16 33962329 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962329 33962329 Chr16(GRCh37):g.33962329C>G 175 175 NR_038368.1:n.175G>C 1 rs72797475 yes no Frequency/1000G 2 0.000000 0 0.002589 0.072464 0.000000 0.000000 0.125000 0.000000 0.000354 0.300000 0.000000 0.300000 16 10 0 0 1 0 2 3 0 6180 138 50 214 8 0 5648 10 112 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 10 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 598 Genomes transversion G C G>C 0.000 -1.974 255 PASS 0.21 0.25 0.27 0.32 0.23 . . . . . . . LINC00273:uc021thl.1:exon1:c.G112C:p.E38Q . . . 0.8032787 . . @ 147 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 183.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E59Q|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.5114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.21 0.19 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs72797475 0.152 0.145 . . . . . 0.25457875457875456 0.2073170731707317 0.26795580110497236 0.3181818181818182 0.23087071240105542 . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . 0.0725 0.0026 0 0 0.125 0.3 0.0004 0 . . . . -2.044 -2.044000 . . . . . 1.0E-255 . . . . . . . . . -2.044 . 0.32 . rs72797475 rs72797475 rs72797475 1 1538 10 1/0 0,245,241 +rs79019195 16 33962334 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962334 33962334 Chr16(GRCh37):g.33962334G>C 170 170 NR_038368.1:n.170C>G 1 rs79019195 yes no Frequency 1 0.000000 0 0.002322 0.068493 0.000000 0.000000 0.125000 0.000000 0.000320 0.300000 0.000000 0.300000 16 10 0 0 1 0 2 3 0 6892 146 66 258 8 0 6250 10 154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 10 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 534 Genomes transversion C G C>G 0.004 0.367 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C107G:p.T36S . . . 0.35882354 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 170.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aGt|T57S|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.23 0.16 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79019195 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . 0.0685 0.0023 0 0 0.125 0.3 0.0003 0 . . . . 0.430 0.430000 . . . . . 1.0E-255 . . . . . . . . . 0.430 . . . . rs79019195 rs79019195 1 1538 10 1/0 0,228,255 +rs76793526 16 33962351 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962351 33962351 Chr16(GRCh37):g.33962351G>T 153 153 NR_038368.1:n.153C>A 1 rs76793526 yes no Frequency/1000G 2 0.000000 0 0.002184 0.061644 0.000000 0.000000 0.125000 0.000000 0.000321 0.375000 0.000000 0.375000 15 9 0 0 1 0 2 3 0 6868 146 66 258 8 0 6230 8 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 9 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 527 Genomes transversion C A C>A 0.000 0.528 255 PASS 0.21 0.24 0.23 0.29 0.22 . . . . . . . LINC00273:uc021thl.1:exon1:c.C90A:p.D30E . . . 0.32330826 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 133.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D51E|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76793526 . . . . . . . 0.2367216117216117 0.2073170731707317 0.23204419889502761 0.291958041958042 0.21635883905013192 . . ENST00000539813 0.497 0.497 . . . . . . . . . . . . . . . . . . . . . 0.0616 0.0022 0 0 0.125 0.375 0.0003 0 . . . . 0.571 0.571000 . . . . . 1.0E-255 . . . . . . . . . 0.571 . 0.29 . . rs76793526 rs76793526 1 1538 10 1/0 0,235,255 +rs74329268 16 33962354 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962354 33962354 Chr16(GRCh37):g.33962354C>T 150 150 NR_038368.1:n.150G>A 1 rs74329268 no no 0 0.000000 0 0.000194 0.003538 0.000113 0.000000 0.000162 0.000000 0.000059 0.000827 0.000000 0.003538 17 9 2 0 1 0 2 3 0 87490 2544 17734 5364 6188 15776 33778 3626 2480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 9 2 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.004 -0.440 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G87A:p.P29P . . . 0.36842105 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P50|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.14 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74329268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.48e-05 0.0001 0 0 0 0 0 0 0.0608 0.0022 0 0 0.125 0.3 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74329268 rs74329268 1 1538 10 1/0 0,239,255 +rs117243562 16 33962360 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962360 33962360 Chr16(GRCh37):g.33962360G>A 144 144 NR_038368.1:n.144C>T 1 rs117243562 no no 0 0.000000 0 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000043 0.000000 0.000000 0.000043 1 0 0 0 0 0 1 0 0 69758 2034 16070 4464 5404 13358 23164 3214 2050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 31 Exomes transition C T C>T 0.047 0.367 174 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C81T:p.G27G . . . 0.10185185 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G48|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.0974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.3 0.14 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs117243562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.434e-05 0 0 0 0 4.317e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . rs117243562 rs117243562 1 1538 10 1/0 0,223,255 +rs76527999 16 33962365 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962365 33962365 Chr16(GRCh37):g.33962365C>T 139 139 NR_038368.1:n.139G>A 1 rs76527999 no no 0 0.000000 0 0.001977 0.050725 0.000000 0.000000 0.125000 0.000000 0.000335 0.375000 0.000000 0.375000 13 7 0 0 1 0 2 3 0 6574 138 64 246 8 0 5970 8 140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 7 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 517 Genomes transition G A G>A 0.031 0.528 254 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G76A:p.G26S . . . 0.31958762 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 97.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G47S|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.26 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76527999 . . . . . . . . . . . . . . ENST00000539813 0.497 0.497 . . . . . . . . . . . . . . . . . . . . . 0.0507 0.0020 0 0 0.125 0.375 0.0003 0 . . . . 0.571 0.571000 . . . . . 1.0000000000000001E-254 . . . . . . . . . 0.571 . . . . rs76527999 rs76527999 1 1538 10 1/0 0,249,255 +rs77075854 16 33962369 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962369 33962369 Chr16(GRCh37):g.33962369C>T 135 135 NR_038368.1:n.135G>A 1 rs77075854 no no 0 0.000000 0 transition G A G>A 0.000 -2.458 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G72A:p.W24X . . . 0.6111111 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 90.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W45*|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.5677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.22 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77075854 0.087 0.087 . . . . . . . . . . . . ENST00000539813 0.497 -0.98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.494 -2.494000 . . . . . 1.0E-255 . . . . . . . . . -2.494 . 0.087 . . rs77075854 rs77075854 1 1538 10 1/0 0,255,255 +rs79504536 16 33962375 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962375 33962375 Chr16(GRCh37):g.33962375C>G 129 129 NR_038368.1:n.129G>C 1 rs79504536 no no 0 0.000000 0 transversion G C G>C 0.004 -0.440 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G66C:p.G22G . . . 0.58441556 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggC|G43|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79504536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79504536 rs79504536 1 1538 10 1/0 0,255,255 +rs79457451 16 33962376 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962376 33962376 Chr16(GRCh37):g.33962376C>G 128 128 NR_038368.1:n.128G>C 1 rs79457451 no no 0 0.000000 0 transversion G C G>C 0.004 0.528 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G65C:p.G22A . . . 0.58666664 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 75.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G43A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.27 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79457451 . . . . . . . . . . . . . . ENST00000539813 0.497 0.497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.571 0.571000 . . . . . 1.0E-255 . . . . . . . . . 0.571 . . . . rs79457451 rs79457451 1 1538 10 1/0 0,255,255 +rs796254279 16 33962387 C A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962387 33962387 Chr16(GRCh37):g.33962387C>A 117 117 NR_038368.1:n.117G>T 1 rs796254279 no no 0 0.000000 0 0.000514 0.001196 0.000000 0.000000 0.020000 0.000000 0.000160 0.007143 0.000000 0.020000 4 1 0 0 1 0 1 1 0 7778 836 74 252 50 0 6258 140 168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 449 Genomes transversion G T G>T 0.000 0.528 200 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G54T:p.G18G . . . 0.16129032 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggT|G39|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0005 0 0 0.02 0.0071 0.0002 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +rs796359885 16 33962389 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962389 33962389 Chr16(GRCh37):g.33962389C>T 115 115 NR_038368.1:n.115G>A 1 rs796359885 no no 0 0.000000 0 0.000524 0.001235 0.000000 0.000000 0.021739 0.000000 0.000162 0.009434 0.000000 0.021739 4 1 0 0 1 0 1 1 0 7632 810 82 254 46 0 6180 106 154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 445 Genomes transition G A G>A 0.000 -0.440 199 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G52A:p.G18R . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 63.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G39R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000539813 0.497 -0.994 . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0005 0 0 0.0217 0.0094 0.0002 0 . . . . -0.543 -0.543000 . . . . . 1.0E-199 . . . . . . . . . -0.543 . . . . . . 1 1538 10 1/0 0,252,255 +rs75367546 16 33962416 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962416 33962416 Chr16(GRCh37):g.33962416G>A 88 88 NR_038368.1:n.88C>T 1 rs75367546 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71920 1810 17162 4262 5436 13722 24102 3184 2242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 31 Exomes transition C T C>T 0.000 -1.974 199 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C25T:p.R9W . . . 0.6041667 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R30W|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.5247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.12 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75367546 0.022 0.022 . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -2.075 -2.075000 . . . . . 1.0E-199 . . . . . . . . . -2.075 . 0.022 . . rs75367546 rs75367546 1 1538 10 1/0 0,255,255 +rs77435361 16 33962422 C A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962422 33962422 Chr16(GRCh37):g.33962422C>A 82 82 NR_038368.1:n.82G>T 1 rs77435361 no no 0 0.000000 0 transversion G T G>T 0.059 0.367 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G19T:p.A7S . . . 0.5 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Tcg|A28S|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.3 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77435361 0.043 0.036 . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.419 0.419000 . . . . . 1.0E-255 . . . . . . . . . 0.419 . 0.043 . . rs77435361 rs77435361 1 1538 10 1/0 0,255,255 +rs62028812 16 33962435 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962435 33962435 Chr16(GRCh37):g.33962435G>A 69 69 NR_038368.1:n.69C>T 1 rs62028812 yes no Frequency 1 0.000000 0 transition C T C>T 0.031 0.367 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C6T:p.G2G . . . 0.44444445 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G23|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.3424 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.17 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028812 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs62028812 rs62028812 rs62028812 rs62028812 1 1538 10 1/0 0,255,255 +rs62028813 16 33962455 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962455 33962455 Chr16(GRCh37):g.33962455C>T 49 49 NR_038368.1:n.49G>A 1 rs62028813 yes no Frequency/1000G 2 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000152 0.000000 0.000000 0.000000 0.000000 0.000152 1 0 0 0 1 0 0 0 0 93454 10052 16708 3672 6562 12118 35564 5854 2924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.016 0.367 255 PASS . . . . . . . . . . . . . . . . 0.34210527 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V17I|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.3514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.0028 . . . 0.45 0.39 182 ENSG00000256642 LINC00273 LINC00273 . uc021thl.1:c.-15G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028813 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.545e-05 0 0 0.0002 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs62028813 rs62028813 rs62028813 rs62028813 1 1538 10 1/0 0,255,255 +. (chr16:33965539 G/GC) 16 33965539 G GC Not on a known gene +rs113793966 (chr16:33965554 A/G) 16 33965554 A G Not on a known gene +rs796535388 (chr16:33965561 T/C) 16 33965561 T C Not on a known gene +rs76771321 (chr16:33965591 A/C) 16 33965591 A C Not on a known gene +rs79737540 (chr16:33965593 T/C) 16 33965593 T C Not on a known gene +rs75700822 (chr16:33965626 A/G) 16 33965626 A G Not on a known gene +rs142227859 (chr16:33965643 G/C) 16 33965643 G C Not on a known gene +rs796581242 (chr16:33965646 G/A) 16 33965646 G A Not on a known gene +rs796628966 (chr16:33965647 T/G) 16 33965647 T G Not on a known gene +rs796254696 (chr16:33965652 T/C) 16 33965652 T C Not on a known gene +. (chr16:33965655 C/CG) 16 33965655 C CG Not on a known gene +rs200434350 (chr16:33965673 C/T) 16 33965673 C T Not on a known gene +rs201354069 (chr16:33965677 T/C) 16 33965677 T C Not on a known gene +. (chr16:33965682 A/AC) 16 33965682 A AC Not on a known gene +rs796202555 (chr16:33965689 A/G) 16 33965689 A G Not on a known gene +rs144283627 16 46534637 A T - ANKRD26P1 32955 Ankyrin repeat domain 26 pseudogene 1 NR_026556.1 -1 6123 0 substitution exon GRCh37 46534637 46534637 Chr16(GRCh37):g.46534637A>T 1782 1782 NR_026556.1:n.1782T>A 11 165 3' 85.5912 7.84554 0.989224 4.66902 85.5912 7.84554 0.989224 4.66902 0 rs144283627 yes no Frequency/1000G 2 0.000000 0 0.006390 0.000000 0.005100 0.000000 0.015900 0.015900 0.007310 0.001963 0.004038 0.007455 0.000125 0.004464 0.010350 0.012237 0.006849 0.012237 824 25 45 42 1 54 543 93 21 112728 12736 11144 5634 7986 12098 52464 7600 3066 0.000053 0.000000 0.000000 0.000000 0.000000 0.000000 0.000076 0.000263 0.000000 3 0 0 0 0 0 2 1 0 818 25 45 42 1 54 539 91 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.795 -0.521 255 PASS . 0.01 0.02 . 0.01 . 0.0064 0.016 . 0.016 0.0051 . ANKRD26P1:uc002eeb.3:exon11:c.T327A:p.D109E . . . 0.5531915 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaA|D594E|ANKRD26P1|Non-coding_transcript|NON_CODING|NR_026556|NR_026556.ex.11) . . . . . . . -1.1242 . . . . . . . . 3.635e-03 . . . 0.0040 0.0082 0.0127 0 0 0.0124 0.0278 0.0056 0.0056 0.0074 0.0179 0 0.25 0.0102 0.0370 0.0056 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0064 . . . 0.49 0.39 182 ENSG00000261239 ANKRD26P1 ANKRD26P1 . . . . . . 704 0.0108348 64976 672 0.0112026 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144283627 . . . . . . . 0.007326007326007326 0.0 0.019337016574585635 0.0 0.011873350923482849 VI.24 . ENST00000329373 I.94 -1.81 . 1.000000 Q68DM0 . . . . . . . . . 0.0012 0.0073 0.0039 0.0073 0 0.0136 0.0105 0.0053 0.0045 0.0023 0.0073 0.0060 0.0099 0.0006 0.0106 0.01 0.0102 . . . . -0.550 -0.550000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.550 . 0.02 . . rs144283627 rs144283627 1 1538 10 1/0 0,255,255 +rs4624170 16 50261735 C T - PAPD5 30758 PAP associated domain containing 5 NM_001040284.2 1 8114 2097 NP_001035374.2 substitution intron GRCh37 50261735 50261735 Chr16(GRCh37):g.50261735C>T 1756-15 1756-15 NM_001040284.2:c.1756-15C>T p.? p.? 12 11 605540 -15 3' 71.4124 4.04214 0.158003 1.90569 71.4124 4.84542 0.163632 3.1154 0.0781178 Cryptic Acceptor Weakly Activated 50261750 4.04214 0.158003 71.4124 4.84542 0.163632 71.4124 rs4624170 yes no Frequency/1000G 2 C 0.000000 0 0.999601 0.998500 1.000000 1.000000 1.000000 1.000000 0.999982 0.999833 0.999971 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 276651 24014 34401 10144 18866 30772 126212 25786 6456 276656 24018 34402 10144 18866 30772 126212 25786 6456 0.999964 0.999667 0.999942 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 138323 12005 17200 5072 9433 15386 63106 12893 3228 5 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 1 1 8220 3761 11981 0 0.000265816 8.34585e-05 1 0.999734 0.999917 69 transition C T C>T 0.000 -0.198 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . 1. 1. 1. 1. 1. 1. . 0.3902 . . . . . . . . 1.000 . . . 0.9997 1.0000 1 1 1 1 1 1 0.9998 1.0000 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.5 0.29 182 ENSG00000121274 PAPD5 PAPD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs4624170 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . 0.999917 . . . . . 0.9998 1.0000 1.0000 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs4624170 rs4624170 rs4624170 rs4624170 1 1538 255 1.I 0,0,255 +. 16 55361764 G C - IRX6 14675 Iroquois homeobox 6 NM_024335.2 1 2329 1341 NP_077311.2 P78412 substitution missense exon GRCh37 55361764 55361764 Chr16(GRCh37):g.55361764G>C 680 680 NM_024335.2:c.680G>C p.Gly227Ala p.Gly227Ala 4 606196 -42 5' 71.4965 8.55816 0.786031 5.20866 71.4965 8.55816 0.786031 5.17447 0 transversion G C G>C 0.000 1.013 G Gly GGA 0.246 A Ala GCA 0.226 227 13 9 Opossum 0 0 0 0.74 0 9 8.I 3 31 60 C0 353.86 0.00 Tolerated 0.13 III.45 bad 7.876E-4 0.001002 255 PASS . . . . . . . . . . . ENSG00000159387:ENST00000290552:exon4:c.G680C:p.G227A . IRX6:NM_024335:exon4:c.G680C:p.G227A . . 0.41666666 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.063 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gCa|G227A|IRX6|mRNA|CODING|NM_024335|NM_024335.ex.4) . . . . . . . -1.1095 -1.043 -1.109 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.898 . . exonic exonic exonic . . 0.388 @ . . . . . . ENSG00000159387 IRX6 IRX6 . . . 0.957 0.282 . . . . . . . Uncertain_significance . 0 . 0.275 . . . . D 0.521 0.029 . . 37 . 0.726 . . 0.583 . . . 0.419 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.076 . . . . . 0.325 . 0.098 . HET 0.12 . . . . . . . . . . . . . 8.569 . ENST00000290552 V.43 III.48 . 0.370000 P78412 . . Name\x3dnsv833239 . . 0.258 . . III.48 . . . . . . . . . . . . . . . . . . . 0.340 . 0.668 0.668000 . . 0.370000 . . 1.0E-255 0.000 0.063 . 0.090 0.365 . 0.237 . 0.219 0.668 0.868 . . . . . 1 1538 10 1/0 0,255,255 +. 16 55728025 G C - SLC6A2 11048 Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 NM_001172504.1 1 2858 1887 NP_001165975.1 substitution missense exon GRCh37 55728025 55728025 Chr16(GRCh37):g.55728025G>C 1022 1022 NM_001172504.1:c.1022G>C p.Arg341Thr p.Arg341Thr 6 163970 -1 5' 94.6711 X.63 0.991955 2.09437 81.36 7.44718 0.873547 0 -0.189421 Sodium 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246198 15296 33580 9850 17248 30782 111658 22300 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 114 Exomes transversion G C G>C 1.000 5.694 R Arg AGG 0.207 T Thr ACG 0.116 341 11 9 Frog -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 241.65 30.75 Deleterious 0.02 III.98 bad 1.374E-4 0.0002155 255 PASS . . . . . . . . . . . . . . . . 0.42592594 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.802 . @ . . . . . 1 0.409 . . 54.0 . . . . . . . . . . 0.8566 0.781 0.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.762 . . exonic exonic exonic . . 0.627 @ . . . . . . ENSG00000103546 SLC6A2 SLC6A2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.891 . . 0.918 . . . 0.882 0.810 . . . . 0 1 0 0 0 0 0 1 1 0 0 0.819 . . 0 0 0 0 0 0 . 0.604 . . 0.637 . . . . . . 0 0.518 . . . . . 0.880 . 0.925 . HET 0 . . . . . . . . . . . . . 17.6378 . . IV.87 IV.87 . 0.010000 . 0.9999 0.95 . . . 0.854 . . IV.87 0 4.062e-06 0 0 0 0 8.956e-06 0 0 . . . . . . . . . . 0.133 . 2.267 2.267000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.697 0.990 . 0.987 . 0.713 2.267 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs556836182 16 55736320 G A - SLC6A2 11048 Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 NM_001172504.1 1 2858 1887 NP_001165975.1 substitution intron GRCh37 55736320 55736320 Chr16(GRCh37):g.55736320G>A 1830+474 1830+474 NM_001172504.1:c.1830+474G>A p.? p.? 13 13 163970 474 5' 85.557 8.56441 0.875069 XI.67 85.557 8.56441 0.875069 XI.67 0 rs556836182 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.001000 0.001000 0.000000 0.000000 0.000388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000534 0.000859 0.001025 0.000859 12 0 0 0 0 0 8 3 1 30940 8730 838 300 1620 0 14984 3492 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 0 0 0 8 3 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -1.812 255 PASS . . . . . . 0.0004 . 0.001 . 0.001 . . . . . 0.55454546 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . . . . . . . . -0.2948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . . . . ENSG00000103546 SLC6A2 SLC6A2 . . . . . . 12 0.000184684 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs556836182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0.0009 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 55807255 C T - CES1P1 18546 Carboxylesterase 1 pseudogene 1 NR_003276.2 1 2259 0 substitution intron GRCh37 55807255 55807255 Chr16(GRCh37):g.55807255C>T 737-61 737-61 NR_003276.2:n.737-61C>T p.? p.? 6 5 -61 3' 81.9539 9.0957 0.700294 8.43908 81.9539 9.0957 0.700294 8.63652 0 Cryptic Donor Strongly Activated 55807253 75.5025 9.35354 0.988995 78.5965 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000304 0.001176 0.000304 2 0 0 0 0 0 0 1 1 27860 8334 726 258 1224 0 13178 3290 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 PASS 34 Genomes transition C T C>T 0.000 -1.328 188 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . INTRON(MODIFIER||||CES1P1|Non-coding_transcript|NON_CODING|NR_003276|) . . . . . . . -0.6366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000228695 CES1P1 CES1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.179e-05 0 0 0 0.0003 0 0.0012 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs553046509 16 55807295 T A - CES1P1 18546 Carboxylesterase 1 pseudogene 1 NR_003276.2 1 2259 0 substitution intron GRCh37 55807295 55807295 Chr16(GRCh37):g.55807295T>A 737-21 737-21 NR_003276.2:n.737-21T>A p.? p.? 6 5 -21 3' 81.9539 9.0957 0.700294 8.43908 81.9539 9.0957 0.755237 7.86345 0.0261523 rs553046509 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000281 0.000119 0.000291 0.000342 0.000000 0.001091 0.000186 0.000059 0.000248 0.001091 45 2 6 2 0 21 12 1 1 160156 16834 20608 5842 12104 19254 64504 16976 4034 0.000100 0.000000 0.000194 0.000000 0.000000 0.000623 0.000000 0.000000 0.000000 8 0 2 0 0 6 0 0 0 29 2 2 2 0 9 12 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.125 255 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.3478261 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 115.0 . . INTRON(MODIFIER||||CES1P1|Non-coding_transcript|NON_CODING|NR_003276|) . . . . . . . 0.1757 . . . . . . . . 3.737e-04 . . . 0.0003 0.0009 0 0 0 0.0006 0 0.0022 0.0005 0.0009 0 0 0 0.0004 0 0.0022 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0004 . . . 0.35 0.28 182 ENSG00000228695 CES1P1 CES1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs553046509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0003 0.0004 0 7.254e-05 0.0002 0.0003 0.0011 0.0001 3.786e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76050868 rs76050868 1 1538 10 1/0 0,240,255 +rs4784587 16 55854473 T C - CES1 1863 Carboxylesterase 1 NM_001025195.1 -1 2013 1707 NP_001020366.1 substitution intron GRCh37 55854473 55854473 Chr16(GRCh37):g.55854473T>C 694-82 694-82 NM_001025195.1:c.694-82A>G p.? p.? 6 5 114835 -82 3' 81.9539 9.0957 0.700294 8.1087 81.9539 9.0957 0.700294 8.27375 0 Cryptic Donor Strongly Activated 55854473 0.006266 53.6163 0.464375 0.05554 65.7524 rs4784587 no no 0 0.000000 0 0.003284 0.001980 0.002793 0.000000 0.000638 0.000000 0.004719 0.002437 0.003686 0.004719 85 15 2 0 1 0 57 7 3 25882 7576 716 258 1568 0 12078 2872 814 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 15 2 0 1 0 57 7 3 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition A G A>G 0.000 -1.086 199 PASS . . . . . . . . . . . . . . . . 0.1570248 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . -0.5050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.31 182 ENSG00000198848 CES1 CES1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0033 0.0028 0 0.0006 0.0024 0.0047 0.0037 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . 0.033 rs4784587 rs4784587 rs4784587 rs4784587 1 1538 10 1/0 0,224,255 +rs750516217 16 56536655 G A - BBS2 967 Bardet-Biedl syndrome 2 NM_031885.3 -1 2814 2166 NP_114091.3 Q9BXC9 substitution synonymous exon GRCh37 56536655 56536655 Chr16(GRCh37):g.56536655G>A 870 870 NM_031885.3:c.870C>T p.Ala290= p.Ala290Ala 8 606151 66 3' 93.1348 9.10877 0.988246 VIII.63 93.1348 9.10877 0.988246 8.41789 0 Cryptic Acceptor Strongly Activated 56536644 0.697808 0.007993 64.2014 0.895913 0.01455 68.3033 WD40-repeat-containing domain Bardet-Biedl syndrome 2 protein rs750516217 yes no Frequency 1 G 0.000000 0 0.000069 0.000000 0.000029 0.000000 0.000583 0.000000 0.000055 0.000000 0.000000 0.000583 19 0 1 0 11 0 7 0 0 277156 24036 34418 10144 18866 30778 126660 25790 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 1 0 11 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 0.125 A Ala GCC 0.403 A Ala GCT 0.263 290 255 PASS . . . . . . . . . . . . . BBS2:NM_031885:exon8:c.C870T:p.A290A . . 0.3918919 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A290|BBS2|mRNA|CODING|NM_031885|NM_031885.ex.8) . . . . . . . I.64 . . . . . . . . 7.103e-05 . . . 0 5.517e-05 8.658e-05 0.0002 0 7.13e-05 0 0 0 5.651e-05 8.925e-05 0.0004 0 3.68e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125124 BBS2 BBS2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs750516217 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833243 . . . . . III.57 0 6.905e-05 2.978e-05 0 0.0005 0 6.269e-05 0 0 0 6.459e-05 0 0 0.0012 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr16:57847634 A/ATGCAGGTG) 16 57847634 A ATGCAGGTG Not on a known gene +rs2098739 (chr16:57847635 C/G) 16 57847635 C G Not on a known gene +. (chr16:57847635 C/CGCAGGGGG) 16 57847635 C CGCAGGGGG Not on a known gene +rs188862189 16 58320130 C A - PRSS54 26336 Protease, serine, 54 NM_001080492.1 -1 1810 1188 NP_001073961.1 Q6PEW0 substitution intron GRCh37 58320130 58320130 Chr16(GRCh37):g.58320130C>A 264-31 264-31 NM_001080492.1:c.264-31G>T p.? p.? 5 4 -31 3' 91.2689 XII.77 0.97061 5.13668 91.2689 XII.77 0.97061 5.34131 0 Cryptic Acceptor Strongly Activated 58320120 5.59882 0.124632 76.3071 7.92358 0.64278 79.6217 rs188862189 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.000677 0.000083 0.000349 0.000000 0.000000 0.000392 0.001200 0.000117 0.001088 0.001200 186 2 12 0 0 12 150 3 7 274944 24036 34338 10034 18868 30604 124968 25662 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 2 12 0 0 12 150 3 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4395 12990 5 1 6 0.000581395 0.00022748 0.000461681 0.000581395 0.00022748 0.000461681 96 transversion G T G>T 0.000 0.044 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0029 . 0.001 . . . . . . 0.33333334 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . 0.0002 0.0005 0.0006 0.0002 0.0005 0.0006 . 0.0798 . . . . . . . . 8.210e-04 . . . 0.0002 0.0006 0.0004 0 0.0003 0.0010 0.0014 0.0004 0.0002 0.0008 0.0004 0 0.0005 0.0013 0 0.0004 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.21 0.07 182 ENSG00000103023 PRSS54 PRSS54 . . . . . . 40 0.000615612 64976 37 0.000616811 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs188862189 . . . . . . . . . . . . . . . . . . . . . . . 0.000462 . . . . . 6.534e-05 0.0006 0.0004 0 0 0.0001 0.0011 0.0007 0.0004 0.0001 0.0010 0 0 0 0 0.0017 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs188862189 rs188862189 1 1538 10 1/0 0,255,255 +rs369419200 16 58616794 G A - CNOT1 7877 CCR4-NOT transcription complex, subunit 1 NM_016284.4 -1 8476 7131 NP_057368.3 A5YKK6 substitution missense exon GRCh37 58616794 58616794 Chr16(GRCh37):g.58616794G>A 947 947 NM_016284.4:c.947C>T p.Pro316Leu p.Pro316Leu 10 604917 14 3' 92.6162 5.70164 0.836693 2.18435 92.6162 5.70164 0.87545 2.10197 0.0154405 Cryptic Acceptor Weakly Activated 58616787 4.0541 0.00719 75.5862 4.38897 0.011503 77.0968 rs369419200 yes no Frequency 1 G 0.000000 0 0.000083 0.000042 0.000145 0.000000 0.000000 0.000033 0.000118 0.000039 0.000000 0.000145 23 1 5 0 0 1 15 1 0 276910 24020 34366 10130 18848 30734 126586 25766 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 5 0 0 1 15 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4396 12995 1 0 1 0.000116279 0 7.69468e-05 0.000116279 0 7.69468e-05 107 COSM3510662|COSM3510662 Skin|Haematopoietic and lymphoid tissue 0.000812|0.000796 1232|3770 transition C T C>T 1.000 6.259 P Pro CCG 0.115 L Leu CTG 0.404 316 13 10 Fruitfly -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 209.54 94.04 Deleterious 0.01 3.XII 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.682 . @ . . . . . 1 0.655 . . 52.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.5413 0.649 0.541 c . . . . . 7.103e-05 . . . 9.677e-05 8.83e-05 8.655e-05 0 0 0.0001 0 0 0.0001 7.539e-05 8.924e-05 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.945 @ . . . 0.69 0.24 182 ENSG00000125107 CNOT1 CNOT1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.619 0.045 . . 37 . 0.495 . . 0.220 . . . 0.331 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.777 . . 0 0 0 0 0 0 . 0.899 . . 0.818 . . . . . . 0 0.632 . . . . . 0.984 . 0.897 . HET 0.01 rs369419200 . . . . . . . . . . . . 20.2422 0.0 . V.88 V.88 . . . . . . 0.000077 . 0.756 . . V.88 6.539e-05 8.538e-05 0.0001 0 0 4.49e-05 0.0001 0 3.254e-05 0 6.46e-05 0 0 0 0 0.0001 0 . . 0.730 . 2.788 2.788000 . . . . . 1.0E-255 1.000 0.715 . 0.697 0.992 . 0.980 . 0.551 2.788 0.917 0.0001 . . rs369419200 rs369419200 1 1538 10 1/0 0,255,255 +rs12933313 16 58757568 G A - GOT2 4433 Glutamic-oxaloacetic transaminase 2, mitochondrial NM_002080.3 -1 2462 1293 NP_002071.2 P00505 substitution intron GRCh37 58757568 58757568 Chr16(GRCh37):g.58757568G>A 246+82 246+82 NM_002080.3:c.246+82C>T p.? p.? 2 2 138150 82 5' 89.5524 9.59704 0.990789 5.76725 89.5524 9.59704 0.990789 5.75756 0 rs12933313 yes no Frequency/1000G 2 G 0.000000 0 0.003994 0.001500 0.003100 0.000000 0.010900 0.005800 0.008041 0.004467 0.005967 0.000000 0.000000 0.000000 0.012397 0.002864 0.009184 0.012397 249 39 5 0 0 0 186 10 9 30966 8730 838 302 1620 0 15004 3492 980 0.004016 0.025641 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 247 37 5 0 0 0 186 10 9 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.000 -1.732 255 PASS 0.002 0.01 0.01 . 0.01 0.0015 0.004 0.0058 . 0.011 0.0031 . . . . . 0.37313432 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.1960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.15 0.09 182 ENSG00000125166 GOT2 GOT2 . . . . . . 749 0.0115273 64976 730 0.0121695 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12933313 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0045 0.0080 0.0060 0 0 0.0029 0.0124 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs12933313 rs12933313 rs12933313 rs12933313 1 1538 10 1/0 0,255,255 +rs539699954 16 66785343 G A - DYNC1LI2 2966 Dynein, cytoplasmic 1, light intermediate chain 2 NM_006141.2 -1 4336 1479 NP_006132.1 O43237 substitution intron GRCh37 66785343 66785343 Chr16(GRCh37):g.66785343G>A 107+45 107+45 NM_006141.2:c.107+45C>T p.? p.? 1 1 611406 45 5' 81.8011 7.61415 0.871508 XII.54 81.8011 7.61415 0.871508 XII.19 0 rs539699954 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000055 0.000000 0.000000 0.000055 5 0 0 0 0 0 5 0 0 201640 8968 27514 8412 12764 27424 91558 20638 4362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Exomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.3602941 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . I.02 . . . . . . . . 1.637e-05 . . . 0 2.808e-05 0 0 0 6.489e-05 0 0 0 2.278e-05 0 0 0 4.512e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000135720 DYNC1LI2 DYNC1LI2 . . . . . . 6 9.23418e-05 64976 5 8.33528e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs539699954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.48e-05 0 0 0 0 5.461e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs201102355 16 67218391 C T - EXOC3L1 27540 Exocyst complex component 3-like 1 NM_178516.3 -1 2497 2241 NP_848611.2 Q86VI1 substitution missense exon GRCh37 67218391 67218391 Chr16(GRCh37):g.67218391C>T 2147 2147 NM_178516.3:c.2147G>A p.Arg716His p.Arg716His 14 614117 117 3' 78.7228 8.44538 0.382708 7.59255 78.7228 8.44538 0.382708 7.59255 0 Exocyst complex component Sec6 rs201102355 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.007000 0.000000 0.005179 0.001312 0.001731 0.001715 0.000098 0.004714 0.009276 0.002091 0.003506 0.009276 765 16 40 13 1 100 562 18 15 147720 12192 23102 7580 10160 21212 60588 8608 4278 0.000054 0.000000 0.000000 0.000000 0.000000 0.000189 0.000066 0.000000 0.000000 4 0 0 0 0 2 2 0 0 757 16 40 13 1 96 558 18 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5726 2854 8580 34 6 40 0.00590278 0.0020979 0.00464037 0.00590278 0.0020979 0.00464037 4 transition G A G>A 0.961 2.304 R Arg CGC 0.190 H His CAC 0.587 716 11 8 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 140.59 0.00 Tolerated 0.18 II.76 good 4.136E-1 0.1661 255 PASS 0.01 0.0027 . . 0.004 . 0.0018 . . 0.007 0.002 ENSG00000179044:ENST00000314586:exon14:c.G2147A:p.R716H . EXOC3L1:NM_178516:exon14:c.G2147A:p.R716H . . 0.46774194 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.473 . @ . . . . . 1 0.396 . . 62.0 . . . 0.0021 0.0046 0.0059 0.0021 0.0046 0.0059 . 0.3789 0.274 0.379 c . . . . . 2.890e-03 . . . 0.0023 0.0065 0.0083 0 0 0.0073 0 0.0066 0 0.0061 0.0093 0 0 0.0064 0 0.0066 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.528 0.0018 . . . 0.45 0.43 182 ENSG00000179044 EXOC3L1 EXOC3L1 . . . 1.000 0.747 . 340 0.0052327 64976 331 0.00551795 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.187 . . 0.004 . . . 0.844 0.438 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.899 . . 0.797 . . . . . . 0 0.270 . . . . . 0.485 . 0.576 . HET 0.14 rs201102355 . . . . . . . 0.0027472527472527475 0.006097560975609756 0.0 0.0 0.00395778364116095 XI.27 0.001399 ENST00000314586 V.44 IV.43 . 0.300000 Q86VI1 . . . 0.004640 . 0.296 . . IV.43 0.0011 0.0054 0.0017 0.0018 0.0001 0.0021 0.0099 0.0036 0.0047 0.0014 0.0044 0.0024 0 0 0.0020 0.0074 0.0031 . . 0.062 . 2.543 2.543000 . . 0.300000 . . 1.0E-255 0.384 0.258 . 0.143 0.300 . 0.246 . 0.490 2.543 0.871 0.01 . . rs201102355 rs201102355 1 1538 10 1/0 0,255,255 +rs201102355 16 67218391 C T - KIAA0895L 34408 KIAA0895-like NM_001040715.1 -1 3400 1416 NP_001035805.1 Q68EN5 substitution upstream GRCh37 67218391 67218391 Chr16(GRCh37):g.67218391C>T -1283 -1283 NM_001040715.1:c.-1283G>A p.? p.? 1 -1227 5' 86.7716 9.81343 0.982175 3.84678 86.7716 9.81343 0.982175 3.84678 0 rs201102355 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.007000 0.000000 0.005179 0.001312 0.001731 0.001715 0.000098 0.004714 0.009276 0.002091 0.003506 0.009276 765 16 40 13 1 100 562 18 15 147720 12192 23102 7580 10160 21212 60588 8608 4278 0.000054 0.000000 0.000000 0.000000 0.000000 0.000189 0.000066 0.000000 0.000000 4 0 0 0 0 2 2 0 0 757 16 40 13 1 96 558 18 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5726 2854 8580 34 6 40 0.00590278 0.0020979 0.00464037 0.00590278 0.0020979 0.00464037 4 transition G A G>A 0.961 2.304 255 PASS 0.01 0.0027 . . 0.004 . 0.0018 . . 0.007 0.002 ENSG00000179044:ENST00000314586:exon14:c.G2147A:p.R716H . EXOC3L1:NM_178516:exon14:c.G2147A:p.R716H . . 0.46774194 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.473 . @ . . . . . 1 0.396 . . 62.0 . . . 0.0021 0.0046 0.0059 0.0021 0.0046 0.0059 . 0.3789 0.274 0.379 c . . . . . 2.890e-03 . . . 0.0023 0.0065 0.0083 0 0 0.0073 0 0.0066 0 0.0061 0.0093 0 0 0.0064 0 0.0066 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.528 0.0018 . . . 0.45 0.43 182 ENSG00000179044 EXOC3L1 EXOC3L1 . . . 1.000 0.747 . 340 0.0052327 64976 331 0.00551795 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.187 . . 0.004 . . . 0.844 0.438 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.899 . . 0.797 . . . . . . 0 0.270 . . . . . 0.485 . 0.576 . HET 0.14 rs201102355 . . . . . . . 0.0027472527472527475 0.006097560975609756 0.0 0.0 0.00395778364116095 XI.27 0.001399 ENST00000314586 V.44 IV.43 . 0.300000 Q86VI1 . . . 0.004640 . 0.296 . . IV.43 0.0011 0.0054 0.0017 0.0018 0.0001 0.0021 0.0099 0.0036 0.0047 0.0014 0.0044 0.0024 0 0 0.0020 0.0074 0.0031 . . 0.062 . 2.543 2.543000 . . 0.300000 . . 1.0E-255 0.384 0.258 . 0.143 0.300 . 0.246 . 0.490 2.543 0.871 0.01 . . rs201102355 rs201102355 1 1538 10 1/0 0,255,255 +rs770664121 16 67267764 C G - FHOD1 17905 Formin homology 2 domain containing 1 NM_001318202.1 -1 3932 3573 NP_001305131.1 substitution synonymous exon GRCh37 67267764 67267764 Chr16(GRCh37):g.67267764C>G 1920 1920 NM_001318202.1:c.1920G>C p.Val640= p.Val640Val 15 606881 -205 5' 87.5418 8.88433 0.996542 8.72165 87.5418 8.88433 0.996542 8.72165 0 rs770664121 yes no Frequency 1 C 0.000000 0 0.000105 0.000000 0.000000 0.000000 0.000000 0.000000 0.000224 0.000000 0.000160 0.000224 28 0 0 0 0 0 27 0 1 266106 22630 33510 9848 18302 29940 120774 24840 6262 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 0 0 0 0 0 27 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -1.732 V Val GTG 0.468 V Val GTC 0.240 640 255 PASS . . . . . . . . . . . ENSG00000135723:ENST00000258201:exon13:c.G1842C:p.V614V . FHOD1:NM_013241:exon13:c.G1842C:p.V614V . . 0.34615386 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . 0.0216 . . . . . . . . 1.265e-04 . . . 0 7.412e-05 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000135723 FHOD1 FHOD1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs770664121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0.0002 0 0 9.756e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 68373608 T G - PRMT7 25557 Protein arginine methyltransferase 7 NM_001351143.1 1 3194 2142 NP_001338072.1 substitution intron GRCh37 68373608 68373608 Chr16(GRCh37):g.68373608T>G 747-83 747-83 NM_001351143.1:c.747-83T>G p.? p.? 9 8 610087 -83 3' 81.8182 4.95845 0.280229 2.78732 81.8182 4.95845 0.280229 2.78732 0 rs920984798 no no 0 T 0.000000 0 transversion T G T>G 0.016 0.851 255 PASS . . . . . . . . . . . . . . . . 0.57575756 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.3377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132600 PRMT7 PRMT7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs372375423 16 68373764 C T - PRMT7 25557 Protein arginine methyltransferase 7 NM_001351143.1 1 3194 2142 NP_001338072.1 substitution stop gain exon GRCh37 68373764 68373764 Chr16(GRCh37):g.68373764C>T 820 820 NM_001351143.1:c.820C>T p.Arg274* p.Arg274* 9 610087 74 3' 81.8182 4.95845 0.280229 2.78732 81.8182 4.95845 0.280229 2.56769 0 rs372375423 yes no Frequency 1 C 0.000000 0 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000054 0.000000 0.000182 0.000054 7 0 0 0 0 0 6 0 1 246270 15304 33582 9850 17248 30782 111718 22300 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 6 0 1 0 0 0 0 0 0 0 0 0 PASS 67 Exomes 8599 4396 12995 1 0 1 0.000116279 0 7.69468e-05 0.000116279 0 7.69468e-05 88 transition C T C>T 0.126 0.770 R Arg CGA 0.110 * * TGA 0.489 274 255 PASS . . . . . . . . . . . . . . . . 0.47959185 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.976 . @ . . . . . 0 0.787 . . 98.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.7359 0.567 0.736 c . . . . . 3.157e-05 . . . 0 3.306e-05 0 0 0 7.119e-05 0 0 0 1.883e-05 0 0 0 3.68e-05 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.638 @ . . . 0.54 0.4 182 ENSG00000132600 PRMT7 PRMT7 . . . 0.999 0.398 . . . . . . . Uncertain_significance . 0 . 0.177 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.296 . . . HET 0.78 rs372375423 . . . . . . . . . . . . 8.0569 . . V.91 IV.91 . 0.660000 . . . . 0.000077 . 0.245 . . IV.91 0 2.842e-05 0 0 0 0 5.371e-05 0.0002 0 . . . . . . . . . . 0.730 . 2.799 2.799000 . . 0.660000 . . 1.0E-255 0.137 0.232 . 0.507 0.992 . 0.419 . 0.490 2.799 -0.058 0.0001 . . rs372375423 rs372375423 1 1538 10 1/0 0,255,255 +rs368087822 16 68598634 T C - ZFP90 23329 ZFP90 zinc finger protein NM_001305203.1 1 4651 1911 NP_001292132.1 Q8TF47 substitution 3'UTR GRCh37 68598634 68598634 Chr16(GRCh37):g.68598634T>C *33 *33 NM_001305203.1:c.*33T>C p.? p.? 5 609451 1688 3' 86.7509 7.39284 0.903301 5.67899 86.7509 7.39284 0.903301 5.67899 0 rs368087822 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.000000 0.006100 0.000000 0.000000 0.000000 0.001330 0.000130 0.000392 0.000000 0.000000 0.008552 0.000898 0.000182 0.001937 0.008552 308 3 10 0 0 181 100 4 10 231572 23128 25498 6562 16760 21164 111312 21986 5162 0.000026 0.000000 0.000000 0.000000 0.000000 0.000284 0.000000 0.000000 0.000000 3 0 0 0 0 3 0 0 0 302 3 10 0 0 175 100 4 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8239 3802 12041 7 0 7 0.000848896 0 0.000581009 0.000848896 0 0.000581009 33 transition T C T>C 0.000 0.286 255 PASS . . . . . . 0.0012 . . . 0.0061 . . . . . 0.52 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 25.0 . . . . 0.0006 0.0008 . 0.0006 0.0008 . -0.2617 . . . . . . . . 1.567e-03 . . . 0 0.0022 0.0009 0 0.0003 0.0011 0.0036 0.0106 0 0.0020 0.0009 0 0.0005 0.0009 0.0019 0.0106 . . . . . . UTR3 UTR3 UTR3 . . . 0.0012 . . . 0.51 0.57 182 ENSG00000184939 ZFP90 ZFP90 . . . . . . 43 0.000661783 64976 37 0.000616811 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 rs368087822 . . . . . . . . . . . . VI.86 0.0 ENST00000327567 V.33 3.IV . 0.010000 . . . Name\x3dnsv457515 0.000581 . . . . 3.IV 0 0.0014 0.0004 0 0 0.0002 0.0009 0.0014 0.0086 0.0003 0.0006 0 0 0 0 0.0009 0.0041 . . . . 0.419 0.419000 . . 0.010000 . . 1.0E-255 . . . . . . . . . 0.419 . 0.0008 . . rs368087822 rs368087822 1 1538 10 1/0 0,255,255 +rs117666466 16 69149310 G A - HAS3 4820 Hyaluronan synthase 3 NM_005329.2 1 4220 1662 NP_005320.2 O00219 substitution 3'UTR GRCh37 69149310 69149310 Chr16(GRCh37):g.69149310G>A *141 *141 NM_005329.2:c.*141G>A p.? p.? 4 602428 1065 3' 88.812 X.73 0.952264 10.1402 88.812 X.73 0.952264 10.1402 0 rs117666466 yes no Frequency/1000G 2 G 0.000000 0 0.005192 0.000000 0.016400 0.000000 0.008900 0.001400 0.008723 0.002062 0.008373 0.003311 0.001233 0.000000 0.011941 0.015169 0.010183 0.015169 270 18 7 1 2 0 179 53 10 30954 8728 836 302 1622 0 14990 3494 982 0.011111 0.000000 0.000000 0.000000 0.000000 0.000000 0.011173 0.018868 0.000000 3 0 0 0 0 0 2 1 0 264 18 7 1 2 0 175 51 10 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.913 0.286 255 PASS . 0.01 . . 0.01 . 0.0052 0.0014 . 0.0089 0.016 . . . . . 0.5208333 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . . . . . . . . . 1.0567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0052 . . . 0.51 0.71 182 ENSG00000103044 HAS3 HAS3 . . . . . . 742 0.0114196 64976 716 0.0119361 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117666466 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv906819 . . . . . . . . . . . . . . . 0.0021 0.0087 0.0084 0.0033 0.0012 0.0152 0.0119 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs117666466 rs117666466 1 1538 10 1/0 0,255,255 +. 16 69994884 C T - CLEC18A 30388 C-type lectin domain family 18, member A NM_001136214.2 1 2215 1341 NP_001129686.1 A5D8T8 substitution intron GRCh37 69994884 69994884 Chr16(GRCh37):g.69994884C>T 984+30 984+30 NM_001136214.2:c.984+30C>T p.? p.? 9 9 616571 30 5' 77.6128 5.48956 0.463904 6.80358 77.6128 5.48956 0.463904 6.61947 0 transition C T C>T 0.000 -0.037 205 PASS . . . . . . . . . . . . CLEC18A:uc010vlp.2:exon8:c.C1014T:p.T338T . . . 0.175 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.3344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.51 0.35 182 ENSG00000157322 CLEC18A CLEC18A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . rs4887765 rs4887765 rs4887765 rs4887765 1 1538 10 1/0 0,255,255 +rs62054261 16 69995583 T C - CLEC18A 30388 C-type lectin domain family 18, member A NM_001136214.2 1 2215 1341 NP_001129686.1 A5D8T8 substitution missense exon GRCh37 69995583 69995583 Chr16(GRCh37):g.69995583T>C 1079 1079 NM_001136214.2:c.1079T>C p.Ile360Thr p.Ile360Thr 10 616571 -36 5' 82.5954 11.1124 0.990075 16.2408 82.5954 11.1124 0.990075 16.5949 0 C-type lectin rs62054261 yes no Frequency 1 0.000000 0 COSM5424693 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.976 0.609 I Ile ATT 0.356 T Thr ACT 0.243 360 12 2 Gorilla -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 1 III.83 255 PASS . . . . . . . . . . . . . . . . 0.5272727 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.012 . . 55.0 . . . . . . . . . . -0.8600 -0.710 -0.860 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . 0.247 @ . . . 0.42 0.44 182 ENSG00000157322 CLEC18A CLEC18A . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . 0.353 . . . . T 0.041 0.002 . . 37 . 0.078 . . 0.333 . . . 0.004 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.121 . 0.026 . HET 0.28 rs62054261 . . . . . . . . . . . . IV.68 . . 1.IX 1.IX . . A5D8T8 . . . . . 0.093 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.369 0.369000 . . . . . 1.0E-255 0.987 0.361 . 0.289 0.943 . 0.469 . 0.105 0.369 -0.075 . rs62054261 rs62054261 rs62054261 rs62054261 1 1538 10 1/0 0,255,255 +. 16 69995663 A G - CLEC18A 30388 C-type lectin domain family 18, member A NM_001136214.2 1 2215 1341 NP_001129686.1 A5D8T8 substitution intron GRCh37 69995663 69995663 Chr16(GRCh37):g.69995663A>G 1114+45 1114+45 NM_001136214.2:c.1114+45A>G p.? p.? 10 10 616571 45 5' 82.5954 11.1124 0.990075 16.2408 82.5954 11.1124 0.990075 16.4034 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition A G A>G 0.000 0.125 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.1903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000157322 . CLEC18A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 70217792 C T - CLEC18C 28538 C-type lectin domain family 18, member C NM_173619.3 1 1822 1341 NP_775890.2 Q8NCF0 substitution intron GRCh37 70217792 70217792 Chr16(GRCh37):g.70217792C>T 984+30 984+30 NM_173619.3:c.984+30C>T p.? p.? 8 8 616573 30 5' 77.6128 5.48956 0.463904 6.80358 77.6128 5.48956 0.463904 6.61947 0 transition C T C>T 0.000 -0.117 191 PASS . . . . . . . . . . . . . . . . 0.13953489 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||CLEC18C|mRNA|CODING|NM_173619|) . . . . . . . 0.0277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.39 182 ENSG00000157335 CLEC18C CLEC18C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs4887765 rs4887765 rs4887765 rs4887765 1 1538 10 1/0 0,255,255 +. 16 70218491 T C - CLEC18C 28538 C-type lectin domain family 18, member C NM_173619.3 1 1822 1341 NP_775890.2 Q8NCF0 substitution missense exon GRCh37 70218491 70218491 Chr16(GRCh37):g.70218491T>C 1079 1079 NM_173619.3:c.1079T>C p.Ile360Thr p.Ile360Thr 9 616573 -36 5' 82.5954 11.1124 0.990075 16.2408 82.5954 11.1124 0.990075 16.5949 0 C-type lectin COSM5427760 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.913 1.577 I Ile ATT 0.356 T Thr ACT 0.243 360 12 2 Gorilla -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 1 III.83 255 PASS . . . . . . . . . . . . . CLEC18C:NM_173619:exon9:c.T1079C:p.I360T . . 0.35185185 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.003 . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I360T|CLEC18C|mRNA|CODING|NM_173619|NM_173619.ex.9) . . . . . . . -0.9371 -0.738 -0.937 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.171 . . exonic exonic exonic . . 0.540 @ . . . 0.56 0.47 182 ENSG00000157335 CLEC18C CLEC18C . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.353 . . . . T 0.165 0.006 . . 37 . 0.058 . . 0.228 . . . 0.011 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.356 . 0.022 . HET 1 . . . . . . . . . . . . . 9.0945 . . IV.49 IV.49 . 0.590000 . . . . . . 0.172 . . IV.49 . . . . . . . . . . . . . . . . . . . 0.246 . 1.020 1.020000 . . 0.590000 . . 1.0E-255 0.994 0.380 . 0.307 0.966 . 0.506 . 0.129 1.020 -0.026 . rs62054261 rs62054261 rs62054261 rs62054261 1 1538 10 1/0 0,255,255 +. 16 70219504 G A - CLEC18C 28538 C-type lectin domain family 18, member C NM_173619.3 1 1822 1341 NP_775890.2 Q8NCF0 substitution intron GRCh37 70219504 70219504 Chr16(GRCh37):g.70219504G>A 1212-284 1212-284 NM_173619.3:c.1212-284G>A p.? p.? 11 10 616573 -284 3' 77.7184 3.40527 0.270985 6.58314 77.7184 3.40527 0.270985 6.58314 0 Cryptic Donor Strongly Activated 70219501 2.59004 0.132503 67.5339 7.47864 0.821592 71.8962 0.002578 0.026061 0.000306 0.000000 0.001455 0.000541 0.000290 0.007620 0.001229 0.026061 128 86 3 0 7 3 6 21 2 49656 3300 9790 1168 4810 5544 20660 2756 1628 0.000362 0.004848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000726 0.000000 9 8 0 0 0 0 0 1 0 110 70 3 0 7 3 6 19 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.924 213 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||CLEC18C|mRNA|CODING|NM_173619|) . . . . . . . -0.3691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000157335 CLEC18C CLEC18C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0280 0.0026 0.0003 0 0.0015 0.0075 0.0004 0.0015 0.0005 0.0066 0.0024 0 0 0 0.0077 0 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs144804052 16 70605531 G A - SF3B3 10770 Splicing factor 3b, subunit 3, 130kDa NM_012426.4 1 9720 3654 NP_036558.3 Q15393 substitution intron GRCh37 70605531 70605531 Chr16(GRCh37):g.70605531G>A 3514-45 3514-45 NM_012426.4:c.3514-45G>A p.? p.? 26 25 605592 -45 3' 75.4366 7.99307 0.822618 8.75241 75.4366 7.99307 0.822618 8.25596 0 New Acceptor Site 70605533 7.46943 0.740714 83.6048 rs144804052 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.008000 0.005800 0.008449 0.002356 0.007220 0.023878 0.000000 0.000073 0.011890 0.008866 0.009388 0.023878 2143 55 202 199 0 2 1415 216 54 253626 23348 27978 8334 17564 27280 119008 24362 5752 0.000134 0.000000 0.000000 0.000960 0.000000 0.000000 0.000151 0.000246 0.000348 17 0 0 4 0 0 9 3 1 2109 55 202 191 0 2 1397 210 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8499 4382 12881 101 14 115 0.0117442 0.00318471 0.00884888 0.0117442 0.00318471 0.00884888 26 transition G A G>A 0.008 0.448 255 PASS . 0.0032 0.01 . 0.01 . 0.0024 0.0058 . 0.008 . . . . . . 0.41428572 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||SF3B3|mRNA|CODING|NM_012426|) 0.0032 0.0088 0.012 0.0032 0.0088 0.012 . 0.4243 . . . . . . . . 7.933e-03 . . . 0.0018 0.0073 0.0067 0 0.0069 0.0125 0.0103 0 0.0018 0.0076 0.0064 0 0.0072 0.0121 0.0120 0 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.48 0.26 182 ENSG00000189091 SF3B3 SF3B3 . . . . . . 667 0.0102653 64976 655 0.0109192 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144804052 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7285 0.008849 . . . . . 0.0026 0.0084 0.0073 0.0237 0 0.0086 0.0116 0.0098 7.331e-05 0.0019 0.0090 0.0060 0.0298 0 0.0103 0.0136 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs144804052 rs144804052 1 1538 10 1/0 0,255,255 +rs146617185 16 70815838 G A - VAC14 25507 Vac14, PIKFYVE complex component NM_018052.4 -1 3114 2349 NP_060522.3 Q08AM6 substitution synonymous exon GRCh37 70815838 70815838 Chr16(GRCh37):g.70815838G>A 880 880 NM_018052.4:c.880C>T p.Leu294= p.Leu294Leu 8 604632 -67 5' 58.9091 0.444027 0.011695 1.46739 58.9091 0.444027 0.011695 1.07295 0 Armadillo-type fold rs146617185 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.003000 0.004300 0.002397 0.000666 0.001656 0.003645 0.000053 0.000585 0.003231 0.003840 0.004180 0.003840 664 16 57 37 1 18 409 99 27 277068 24020 34420 10150 18868 30782 126584 25784 6460 0.000036 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000078 0.000619 5 0 0 0 0 1 1 1 2 654 16 57 37 1 16 407 97 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8572 4394 12966 28 2 30 0.00325581 0.000454959 0.0023084 0.00325581 0.000454959 0.0023084 51 transition C T C>T 1.000 2.304 L Leu CTG 0.404 L Leu TTG 0.127 294 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0014 0.0043 . 0.003 0.001 ENSG00000103043:ENST00000261776:exon8:c.C880T:p.L294L . VAC14:NM_018052:exon8:c.C880T:p.L294L . . 0.41379312 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L294|VAC14|mRNA|CODING|NM_018052|NM_018052.ex.8) 0.0005 0.0023 0.0033 0.0005 0.0023 0.0033 . I.82 . . . . . . . . 2.447e-03 . . . 0.0004 0.0024 0.0017 0 0.0047 0.0039 0 0.0005 0.0003 0.0024 0.0018 0 0.0046 0.0035 0 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.52 0.37 182 ENSG00000103043 VAC14 VAC14 . . . . . . 152 0.00233933 64976 145 0.00241723 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146617185 . . . . . . . . . . . . . . . . . . . . . . . 0.002308 . . . . 2.V 0.0004 0.0024 0.0017 0.0038 5.798e-05 0.0039 0.0032 0.0044 0.0006 0.0011 0.0024 0 0 0 0.0034 0.0033 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0033 . . rs146617185 rs146617185 1 1538 10 1/0 0,255,255 +rs12051004 16 70883943 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70883943 70883943 Chr16(GRCh37):g.70883943G>A 12652-93 12652-93 NM_001270974.2:c.12652-93C>T p.? p.? 75 74 610812 -93 3' 83.8372 XI.96 0.975435 XI.65 83.8372 XI.96 0.975435 XI.65 0 Cryptic Acceptor Weakly Activated 70883936 6.65577 0.559128 81.1882 6.99361 0.671785 82.6988 70883940 -13.8503 rs12051004 no no 0 G 0.000000 0 transition C T C>T 0.701 0.367 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.3749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.37 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12051004 0.185 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . 0.18 rs12051004 rs12051004 rs12051004 rs12051004 1 1538 10 1/0 0,255,255 +rs1798314 16 70884524 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70884524 70884524 Chr16(GRCh37):g.70884524C>G 12478 12478 NM_001270974.2:c.12478G>C p.Glu4160Gln p.Glu4160Gln 74 610812 35 3' 83.0709 9.62018 0.622574 3.62193 83.0709 9.62018 0.622574 4.00191 0 rs1798314 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.992 3.111 E Glu GAA 0.417 Q Gln CAA 0.256 4160 12 7 Zebrafish 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Tolerated 0.11 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon74:c.G12478C:p.E4160Q HYDIN:uc031qwy.1:exon74:c.G12478C:p.E4160Q HYDIN:NM_001270974:exon74:c.G12478C:p.E4160Q . . 0.4 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.667 . @ . . . . . 1 0.820 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E4160Q|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.74) . . . . . . . 0.5524 0.545 0.552 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.557 @ . . . 0.49 0.53 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.336 . . . . T 0.333 0.014 . . 37 . 0.067 . . 0.543 . . . 0.589 0.271 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.542 . . 0 0 0 0 0 0 . 0.596 . . 0.685 . . . . . . 0 0.457 . . . . . 0.808 . 0.176 . HET 0 rs1798314 0.500 0.500 . . . . . . . . . . 16.0878 . . V.56 IV.57 . 0.480000 F8WD23 . . . . . 0.476 . . IV.57 . . . . . . . . . . . . . . . . . . . 0.223 . 2.615 2.615000 . . 0.480000 . . 1.0E-255 0.996 0.391 . 0.653 0.970 . 0.530 . 0.490 2.615 -0.064 0.5 rs1798314 rs1798314 rs1798314 rs1798314 1 1538 10 1/0 0,255,255 +rs2502698 16 70889147 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70889147 70889147 Chr16(GRCh37):g.70889147A>G 12327 12327 NM_001270974.2:c.12327T>C p.Ile4109= p.Ile4109Ile 73 610812 32 3' 91.4229 8.30564 0.947239 4.14051 91.4229 8.30564 0.947239 4.72575 0 rs2502698 no no 0 G 0.000000 0 0.000034 0.000000 0.000091 0.000000 0.000055 0.000033 0.000024 0.000000 0.000161 0.000091 9 0 3 0 1 1 3 0 1 264080 16788 32846 9754 18134 30520 124212 25610 6216 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 3 0 1 1 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 1.000 0.851 I Ile ATT 0.356 I Ile ATC 0.481 4109 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon73:c.T12327C:p.I4109I HYDIN:uc031qwy.1:exon73:c.T12327C:p.I4109I HYDIN:NM_001270974:exon73:c.T12327C:p.I4109I . . 0.47826087 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I4109|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.73) . . . . . . . 1.1668 . . . . . . . . 1.635e-05 . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.6 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2502698 0.576 0.551 . . . . . . . . . . . . . . . . . . . . . . . . . . III.42 0 2.949e-05 9.355e-05 0 6.009e-05 0 9.102e-06 0.0002 3.277e-05 0 7.489e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.58 rs2502698 rs2502698 rs2502698 rs149306644 1 1538 10 1/0 0,245,255 +rs1774416 16 70891640 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70891640 70891640 Chr16(GRCh37):g.70891640T>C 12263 12263 NM_001270974.2:c.12263A>G p.Lys4088Arg p.Lys4088Arg 72 610812 -33 5' 82.3421 8.92377 0.988546 5.1278 82.3421 8.92377 0.988546 5.03179 0 New Acceptor Site 70891639 XI.03 0.956853 84.1748 rs1774416 yes no Frequency/HapMap 2 T 0.000000 0 transition A G A>G 0.890 0.609 K Lys AAG 0.575 R Arg AGG 0.207 4088 12 5 Dog 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 1 III.39 220 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon72:c.A12263G:p.K4088R HYDIN:uc031qwy.1:exon72:c.A12263G:p.K4088R HYDIN:NM_001270974:exon72:c.A12263G:p.K4088R . . 0.21238938 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.343 . @ . . . . . 1 0.177 . . 113.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K4088R|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.72) . . . . . . . -0.5626 -0.372 -0.563 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.194 @ . . . 0.41 0.57 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.219 . . . . T 0.276 0.011 . . 37 . 0.004 . . 0.507 . . . 0.188 0.206 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.119 . . 0.104 . . . . . . 0 0.025 . . . . . 0.007 . 0.030 . HET 0.83 rs1774416 0.250 0.181 . . . . . . . . . . 0.5952 . . V.86 1.IX . 0.670000 F8WD23 . . . . . 0.256 . . . . . . . . . . . . . . . . . . . . . . 0.083 . 1.051 1.051000 . . 0.670000 . . 1.0E-220 0.931 0.321 . 0.697 0.081 . 0.412 . 0.762 1.051 -0.013 0.25 rs1774416 rs1774416 rs1774416 rs148896798 1 1538 10 1/0 0,231,255 +rs1774417 16 70891778 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution splice site GRCh37 70891778 70891778 Chr16(GRCh37):g.70891778C>G 12130-5 12130-5 NM_001270974.2:c.12130-5G>C p.? p.? 72 71 610812 -5 3' 74.7685 6.40131 0.796602 7.23659 77.6343 7.77297 0.955143 9.69603 0.150543 Cryptic Acceptor Strongly Activated 70891773 6.40131 0.796602 74.7685 7.77297 0.955143 77.6343 rs1774417 no no 0 G 0.000000 0 0.000015 0.000169 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000169 4 4 0 0 0 0 0 0 0 275820 23704 34334 10122 18782 30664 126052 25728 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.016 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5168539 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.4808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.3 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774417 0.500 0.500 . . . . . . . . . . . . . . . . . . 0 0.008 . . . . . . . 0 0 0 0 0 0 0 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774417 rs1774417 rs1774417 rs143462331 1 1538 10 1/0 0,255,255 +rs11075798 16 70894024 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70894024 70894024 Chr16(GRCh37):g.70894024C>T 12076 12076 NM_001270974.2:c.12076G>A p.Ala4026Thr p.Ala4026Thr 71 610812 -54 5' 86.7716 9.81343 0.996592 4.61618 86.7716 9.81343 0.996592 4.73002 0 Cryptic Acceptor Strongly Activated 70894005 5.70729 0.426782 79.253 VI.29 0.511749 79.253 rs11075798 yes no Frequency/HapMap 2 C 0.000000 0 0.000067 0.000129 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000129 2 1 0 0 0 0 1 0 0 29644 7748 820 282 1622 0 14708 3494 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition G A G>A 0.969 1.093 A Ala GCA 0.226 T Thr ACA 0.280 4026 12 7 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Deleterious 0 III.53 233 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon71:c.G12076A:p.A4026T HYDIN:uc031qwy.1:exon71:c.G12076A:p.A4026T HYDIN:NM_001270974:exon71:c.G12076A:p.A4026T . . 0.25454545 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.573 . @ . . . . . 1 0.187 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A4026T|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.71) . . . . . . . -0.2419 -0.119 -0.242 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.279 @ . . . 0.58 0.64 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . 0.326 . . . . T 0.456 0.023 . . 37 . 0.011 . . 0.617 . . . 0.459 0.290 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.285 . . 0.301 . . . . . . 0 0.024 . . . . . 0.311 . 0.261 . HET 0.37 rs11075798 0.207 0.159 . . . . . . . . . . VIII.87 . . V.51 II.34 . 0.480000 F8WD23 . . . . . 0.308 . . II.34 . . . . . . . . . 0.0001 6.747e-05 0 0 0 0 6.799e-05 0 . . 0.083 . 1.329 1.329000 . . 0.480000 . . 1.0000000000000001E-233 0.843 0.301 . 0.502 0.841 . 0.308 . 0.490 1.329 0.033 0.21 rs11075798 rs11075798 rs11075798 rs11075798 1 1538 10 1/0 0,255,255 +rs1539302 16 70894087 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70894087 70894087 Chr16(GRCh37):g.70894087T>C 12013 12013 NM_001270974.2:c.12013A>G p.Thr4005Ala p.Thr4005Ala 71 610812 23 3' 76.9805 6.00848 0.109219 5.88718 76.9805 6.00848 0.109219 6.02107 0 New Acceptor Site 70894086 2.33503 0.001721 69.0607 rs1539302 yes no Frequency 1 T 0.000000 0 0.000248 0.001139 0.000127 0.000103 0.000056 0.000000 0.000132 0.000608 0.000501 0.001139 65 25 4 1 1 0 16 15 3 261596 21942 31552 9688 17798 28854 121098 24678 5986 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 65 25 4 1 1 0 16 15 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.984 3.434 T Thr ACC 0.361 A Ala GCC 0.403 4005 12 8 Zebrafish 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0 III.39 251 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon71:c.A12013G:p.T4005A HYDIN:uc031qwy.1:exon71:c.A12013G:p.T4005A HYDIN:NM_001270974:exon71:c.A12013G:p.T4005A . . 0.31034482 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.712 . @ . . . . . 1 0.908 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T4005A|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.71) . . . . . . . 0.7160 0.666 0.716 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.817 @ . . . 0.55 0.57 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.336 . . . . D 0.656 0.054 . . 37 . 0.143 . . 0.007 . . . 0.917 0.372 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.758 . . 0 0 0 0 0 0 . 0.764 . . 0.797 . . . . . . 0 0.393 . . . . . 0.732 . 0.584 . HET 0.11 rs1539302 0.370 0.406 . . . . . . . . . . 15.2594 . . V.51 V.51 . 0.120000 F8WD23 . . . . . 0.581 . . V.51 0 8.475e-06 3.236e-05 0 0 0 9.226e-06 0 0 0.0035 0.0025 0.0046 0.0039 0.0007 0.0058 0.0012 0.0038 . . 0.083 . 2.095 2.095000 . . 0.120000 . . 1.0E-251 1.000 0.715 . 0.517 0.678 . 0.724 . 0.807 2.095 0.991 0.37 rs1539302 rs1539302 rs1539302 rs149857179 1 1538 10 1/0 0,255,255 +rs1418287 16 70894123 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70894123 70894123 Chr16(GRCh37):g.70894123A>G 11991-14 11991-14 NM_001270974.2:c.11991-14T>C p.? p.? 71 70 610812 -14 3' 76.9805 6.00848 0.109219 5.88718 74.2077 6.37774 0.083326 5.89967 -0.0705464 rs1418287 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5102041 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.37 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1418287 0.489 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.49 rs1418287 rs1418287 rs1418287 rs118164668 1 1538 10 1/0 0,255,255 +. 16 70896015 GA G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 deletion frameshift exon GRCh37 70896016 70896016 Chr16(GRCh37):g.70896016del 11712 11712 NM_001270974.2:c.11712del p.Gln3905Argfs*5 p.Gln3905Argfs*5 69 610812 -66 5' 73.6208 5.90023 0.585954 0 73.6208 5.90023 0.585954 0 0 rs11337008 yes no Frequency/1000G 2 A 0.000000 0 T 255 Pass . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon69:c.11712delT:p.I3904fs HYDIN:uc031qwy.1:exon69:c.11712delT:p.I3904fs HYDIN:NM_001270974:exon69:c.11712delT:p.I3904fs . . 0.45454547 . . . 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 132 . . FRAME_SHIFT(HIGH||||HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.69) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs565285670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11337008 rs11337008 rs11337008 rs11337008 1 1538 10 1.I 0,12,34 +rs1626593 16 70896033 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70896033 70896033 Chr16(GRCh37):g.70896033C>T 11695 11695 NM_001270974.2:c.11695G>A p.Val3899Met p.Val3899Met 69 610812 -83 5' 73.6208 5.90023 0.585954 0 73.6208 5.90023 0.585954 0 0 rs1626593 yes no Frequency/HapMap 2 C 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 0.000065 2 0 0 0 0 2 0 0 0 245252 15240 33504 9818 17164 30686 111174 22218 5448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition G A G>A 0.882 1.335 V Val GTG 0.468 M Met ATG 1.000 3899 12 5 Dog 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0.01 III.39 230 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon69:c.G11695A:p.V3899M HYDIN:uc031qwy.1:exon69:c.G11695A:p.V3899M HYDIN:NM_001270974:exon69:c.G11695A:p.V3899M . . 0.24409449 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.570 . @ . . . . . 1 0.843 . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V3899M|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.69) . . . . . . . 0.3197 0.215 0.320 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.433 @ . . . 0.54 0.61 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.167 . . . . T 0.476 0.024 . . 37 . 0.046 . . 0.135 . . . 0.710 0.263 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.490 . . 0 0 0 0 0 0 . 0.764 . . 0.719 . . . . . . 0 0.632 . . . . . 0.131 . 0.525 . HET 0.01 rs1626593 0.217 0.167 . . . . . . . . . . IV.17 . . V.97 III.84 . 0.010000 F8WD23 . . . . . 0.257 . . III.84 0 8.155e-06 0 0 0 0 0 0 6.518e-05 . . . . . . . . . . 0.455 . 1.541 1.541000 . . 0.010000 . . 1.0E-230 0.975 0.345 . 0.202 0.004 . 0.407 . 0.490 1.541 0.033 0.22 rs1626593 rs1626593 rs1626593 rs1626593 1 1538 10 1/0 0,230,255 +rs1798324 16 70896975 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70896975 70896975 Chr16(GRCh37):g.70896975C>T 11569+13 11569+13 NM_001270974.2:c.11569+13G>A p.? p.? 68 68 610812 13 5' 87.5418 8.88433 0.987302 3.58121 87.5418 8.88433 0.987302 3.07628 0 rs1798324 no no 0 T 0.000000 0 transition G A G>A 0.000 -2.216 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.3256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.63 0.36 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798324 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798324 rs1798324 rs1798324 rs144572080 1 1538 10 1/0 0,255,255 +rs1798325 16 70897039 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70897039 70897039 Chr16(GRCh37):g.70897039C>G 11518 11518 NM_001270974.2:c.11518G>C p.Val3840Leu p.Val3840Leu 68 610812 47 3' 84.7239 7.89768 0.890353 2.81682 84.7239 7.89768 0.890353 II.82 0 rs1798325 no no 0 C 0.000000 0 transversion G C G>C 0.000 -1.005 V Val GTC 0.240 L Leu CTC 0.197 3840 12 3 Dog 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.57 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon68:c.G11518C:p.V3840L HYDIN:uc031qwy.1:exon68:c.G11518C:p.V3840L HYDIN:NM_001270974:exon68:c.G11518C:p.V3840L . . 0.44186047 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.222 . @ . . . . . 1 0.124 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ctc|V3840L|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.68) . . . . . . . -1.4283 -1.448 -1.428 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.020 @ . . . 0.57 0.61 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.073 . . . . T 0.234 0.009 . . 37 . 0.007 . . 0.483 . . . 0.188 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.147 . . 0.223 . . . . . . 0 0.119 . . . . . 0.350 . 0.260 . HET 0 rs1798325 0.500 0.500 . . . . . . . . . . 8.987 . . V.36 -6.0 . 0.660000 F8WD23 . . . . . 0.074 . . . . . . . . . . . . . . . . . . . . . . 0.348 . -0.633 -0.633000 . . 0.660000 . . 1.0E-255 0.001 0.137 . 0.523 0.991 . 0.066 . 0.062 -0.633 0.008 0.5 rs1798325 rs1798325 rs1798325 rs148443835 1 1538 10 1/0 0,255,255 +rs2001936 16 70900048 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70900048 70900048 Chr16(GRCh37):g.70900048A>G 11471+24 11471+24 NM_001270974.2:c.11471+24T>C p.? p.? 67 67 610812 24 5' 70.4128 6.51426 0.590017 0 70.4128 6.51426 0.590017 0 0 rs2001936 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.000 1.255 255 PASS . . . . . . . . . . . . . . . . 0.5308642 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.1102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.58 0.49 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2001936 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . II.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs2001936 rs2001936 rs2001936 rs143115517 1 1538 10 1/0 0,255,255 +rs1798413 16 70902559 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70902559 70902559 Chr16(GRCh37):g.70902559C>T 11224 11224 NM_001270974.2:c.11224G>A p.Val3742Ile p.Val3742Ile 66 610812 -87 5' 87.5573 9.72159 0.992731 X.16 87.5573 9.72159 0.992731 X.16 0 rs1798413 no no 0 C 0.000000 0 transition G A G>A 1.000 1.335 V Val GTC 0.240 I Ile ATC 0.481 3742 12 8 Zebrafish 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon66:c.G11224A:p.V3742I HYDIN:uc031qwy.1:exon66:c.G11224A:p.V3742I HYDIN:NM_001270974:exon66:c.G11224A:p.V3742I . . 0.44186047 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.628 . @ . . . . . 1 0.468 . . 129.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V3742I|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.66) . . . . . . . -0.1107 -0.057 -0.111 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.255 @ . . . 0.45 0.27 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.414 . . . . . . . Uncertain_significance . 0 . 0.299 . . . . T 0.399 0.018 . . 37 . 0.013 . . 0.635 . . . 0.447 0.278 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.181 . . 0 0 0 0 0 0 . 0.347 . . 0.277 . . . . . . 0 0.381 . . . . . 0.364 . 0.054 . HET 0.17 rs1798413 0.500 0.500 . . . . . . . . . . IX.11 . . 5.III 2.II . 0.170000 F8WD23 . . . . . 0.413 . . 2.II . . . . . . . . . . . . . . . . . . . 0.083 . 0.529 0.529000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.498 0.996 . 0.346 . 0.362 0.529 0.871 0.5 rs1798413 rs1798413 rs1798413 rs1798413 1 1538 10 1/0 0,242,255 +rs1774504 16 70902568 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70902568 70902568 Chr16(GRCh37):g.70902568C>T 11215 11215 NM_001270974.2:c.11215G>A p.Ala3739Thr p.Ala3739Thr 66 610812 -96 5' 87.5573 9.72159 0.992731 X.16 87.5573 9.72159 0.992731 X.16 0 rs1774504 no no 0 C 0.000000 0 transition G A G>A 0.945 1.174 A Ala GCA 0.226 T Thr ACA 0.280 3739 12 4 Chicken 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.3 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon66:c.G11215A:p.A3739T HYDIN:uc031qwy.1:exon66:c.G11215A:p.A3739T HYDIN:NM_001270974:exon66:c.G11215A:p.A3739T . . 0.47142857 . . @ 66 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.574 . @ . . . . . 1 0.499 . . 140.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A3739T|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.66) . . . . . . . -0.5030 -0.462 -0.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.338 @ . . . 0.47 0.31 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.422 . . . . . . . Uncertain_significance . 0 . 0.195 . . . . T 0.239 0.009 . . 37 . 0.013 . . 0.550 . . . 0.552 0.194 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.274 . . 0.244 . . . . . . 0 0.084 . . . . . 0.239 . 0.089 . HET 0.15 rs1774504 0.500 0.500 . . . . . . . . . . 7.0187 . . 5.III 3.II . 0.540000 F8WD23 . . . . . 0.200 . . 3.II . . . . . . . . . . . . . . . . . . . 0.083 . 0.490 0.490000 . . 0.540000 . . 1.0E-255 0.018 0.193 . 0.587 0.999 . 0.204 . 0.362 0.490 0.871 0.5 rs1774504 rs1774504 rs1774504 rs1774504 1 1538 10 1/0 0,242,255 +rs2502690 16 70902683 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70902683 70902683 Chr16(GRCh37):g.70902683G>A 11100 11100 NM_001270974.2:c.11100C>T p.His3700= p.His3700His 66 610812 9 3' 0 1.62524 0.887946 0 0 1.62524 0.865886 0 -0.0124219 rs2502690 yes no Frequency 1 G 0.000000 0 0.000098 0.001042 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001042 27 25 2 0 0 0 0 0 0 276216 23982 34334 10132 18810 30678 126126 25732 6422 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 25 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.690 H His CAC 0.587 H His CAT 0.413 3700 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon66:c.C11100T:p.H3700H HYDIN:uc031qwy.1:exon66:c.C11100T:p.H3700H HYDIN:NM_001270974:exon66:c.C11100T:p.H3700H . . 0.47328246 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H3700|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.66) . . . . . . . 1.1222 . . . . . . . . 6.388e-05 . . . 0.0007 8.409e-05 0 0 0 0 0 0 0.0009 7.232e-05 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.31 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2502690 0.457 0.464 . . . . . . . . . . . . . . . . . . . . . . . . . . II.55 0.0012 8.155e-05 5.971e-05 0 0 0 0 0 0 0.0008 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs2502690 rs2502690 rs2502690 rs117238714 1 1538 10 1/0 0,250,255 +. 16 70905912 CA C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 deletion intron GRCh37 70905913 70905913 Chr16(GRCh37):g.70905913del 11091+27 11091+27 NM_001270974.2:c.11091+27del p.? p.? 65 65 610812 27 5' 87.8485 8.76378 0.995082 5.98478 87.8485 8.76378 0.995082 5.91653 0 Cryptic Acceptor Weakly Activated 70905900 4.34811 0.15834 66.6207 4.62402 0.331011 66.6207 rs67973650 no no 0 A 0.000000 0 T 255 Pass . . . . . . . . . . . . . . . . 0.49107143 . . . 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140651943 0.174 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.17 . rs67973650 rs67973650 rs140651943 1 1538 10 1.I 0,12,31 +rs1774311 16 70908239 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70908239 70908239 Chr16(GRCh37):g.70908239G>A 10917 10917 NM_001270974.2:c.10917C>T p.Ile3639= p.Ile3639Ile 64 610812 -32 5' 80.2281 6.70762 0.280558 0 80.2281 6.70762 0.280558 0 0 rs1774311 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.000 -2.861 I Ile ATC 0.481 I Ile ATT 0.356 3639 224 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon64:c.C10917T:p.I3639I HYDIN:uc031qwy.1:exon64:c.C10917T:p.I3639I HYDIN:NM_001270974:exon64:c.C10917T:p.I3639I . . 0.22857143 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 35.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I3639|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.64) . . . . . . . -0.5884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.41 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774311 0.315 0.246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . 0.32 rs1774311 rs1774311 rs1774311 rs146091852 1 1538 10 1/0 0,255,255 +rs1354549 16 70908684 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70908684 70908684 Chr16(GRCh37):g.70908684T>C 10660+36 10660+36 NM_001270974.2:c.10660+36A>G p.? p.? 63 63 610812 36 5' 99.6933 X.84 0.998453 11.1858 99.6933 X.84 0.998453 XI.02 0 rs1354549 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.57009345 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.1163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.54 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1354549 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1354549 rs1354549 rs1354549 rs1354549 1 1538 10 1/0 0,255,255 +rs1354550 16 70908736 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70908736 70908736 Chr16(GRCh37):g.70908736A>G 10644 10644 NM_001270974.2:c.10644T>C p.Asn3548= p.Asn3548Asn 63 610812 -17 5' 99.6933 X.84 0.998453 11.1858 99.6933 X.84 0.998453 XI.91 0 rs1354550 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.984 0.448 N Asn AAT 0.464 N Asn AAC 0.536 3548 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon63:c.T10644C:p.N3548N HYDIN:uc031qwy.1:exon63:c.T10644C:p.N3548N HYDIN:NM_001270974:exon63:c.T10644C:p.N3548N . . 0.5344828 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N3548|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.63) . . . . . . . 0.8623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.42 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1354550 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . II.69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1354550 rs1354550 rs1354550 rs1354550 1 1538 10 1/0 0,255,255 +rs1774323 16 70913386 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70913386 70913386 Chr16(GRCh37):g.70913386G>A 10371 10371 NM_001270974.2:c.10371C>T p.Thr3457= p.Thr3457Thr 62 610812 4 3' 81.3577 9.56491 0.981982 X.29 81.3577 9.56491 0.982672 X.23 0.00023422 rs1774323 no no 0 G 0.000000 0 transition C T C>T 0.000 0.125 T Thr ACC 0.361 T Thr ACT 0.243 3457 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon62:c.C10371T:p.T3457T HYDIN:uc031qwy.1:exon62:c.C10371T:p.T3457T HYDIN:NM_001270974:exon62:c.C10371T:p.T3457T . . 0.44041452 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 193.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T3457|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.62) . . . . . . . 0.3988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.36 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774323 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774323 rs1774323 rs1774323 rs117309677 1 1538 10 1/0 0,226,251 +rs1774325 16 70913501 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70913501 70913501 Chr16(GRCh37):g.70913501T>C 10367+7 10367+7 NM_001270974.2:c.10367+7A>G p.? p.? 61 61 610812 7 5' 71.1898 7.87896 0.935293 6.41578 71.1898 7.87896 0.936232 6.53232 0.000334654 rs1774325 no no 0 C 0.000000 0 transition A G A>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.45945945 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.63 0.51 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774325 0.500 0.500 . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774325 rs1774325 rs1774325 rs139648851 1 1538 10 1/0 0,223,246 +rs7190934 16 70916816 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70916816 70916816 Chr16(GRCh37):g.70916816G>A 9980-18 9980-18 NM_001270974.2:c.9980-18C>T p.? p.? 60 59 610812 -18 3' 79.6089 8.07607 0.8913 7.17662 79.6089 8.00627 0.855762 7.23854 -0.0161714 rs7190934 no no 0 G 0.000000 0 transition C T C>T 0.102 1.416 204 PASS . . . . . . . . . . . . . . . . 0.16911764 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.3800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.45 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7190934 0.293 0.341 . . . . . . . . . . . . . . . . . . . . . . . . . . II.43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . 0.29 rs7190934 rs7190934 rs7190934 rs7190934 1 1538 10 1/0 0,219,255 +rs1798435 16 70916819 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70916819 70916819 Chr16(GRCh37):g.70916819C>T 9980-21 9980-21 NM_001270974.2:c.9980-21G>A p.? p.? 60 59 610812 -21 3' 79.6089 8.07607 0.8913 7.17662 79.6089 8.07607 0.884462 6.54534 -0.00255731 rs1798435 yes no Frequency/HapMap 2 T 0.000000 0 transition G A G>A 0.000 -2.619 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.5537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.4 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798435 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798435 rs1798435 rs1798435 rs1798435 1 1538 10 1/0 0,254,255 +rs1774329 16 70916849 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70916849 70916849 Chr16(GRCh37):g.70916849A>G 9980-51 9980-51 NM_001270974.2:c.9980-51T>C p.? p.? 60 59 610812 -51 3' 79.6089 8.07607 0.8913 7.17662 79.6089 8.07607 0.8913 6.71139 0 rs1774329 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.000 -2.539 255 PASS . . . . . . . . . . . . . . . . 0.5233645 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.6931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.43 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774329 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774329 rs1774329 rs1774329 rs1774329 1 1538 10 1/0 0,255,255 +rs1774331 16 70917855 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70917855 70917855 Chr16(GRCh37):g.70917855A>G 9947 9947 NM_001270974.2:c.9947T>C p.Leu3316Pro p.Leu3316Pro 59 610812 -33 5' 71.8032 9.04236 0.82493 5.30642 71.8032 9.04236 0.82493 5.32282 0 rs1774331 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.976 1.174 L Leu CTT 0.129 P Pro CCT 0.283 3316 12 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon59:c.T9947C:p.L3316P HYDIN:uc031qwy.1:exon59:c.T9947C:p.L3316P HYDIN:NM_001270974:exon59:c.T9947C:p.L3316P . . 0.45876288 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.001 . . 194.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L3316P|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.59) . . . . . . . -1.0146 -0.755 -1.015 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.452 @ . . . 0.64 0.45 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.328 . . . . T 0.342 0.014 . . 37 . 0.003 . . 0.359 . . . 0.000 0.422 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.271 . 0.059 . HET 0.35 rs1774331 0.500 0.500 . . . . . . . . . . VII.32 . . 5.I III.98 . 1.000000 F8WD23 . . . . . 0.123 . . III.98 . . . . . . . . . . . . . . . . . . . 0.498 . 1.123 1.123000 . . 1.000000 . . 1.0E-255 0.999 0.424 . 0.276 0.869 . 0.477 . 0.222 1.123 -0.597 0.5 rs1774331 rs1774331 rs1774331 rs138915898 1 1538 10 1/0 0,226,243 +rs1798440 16 70917931 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70917931 70917931 Chr16(GRCh37):g.70917931C>G 9871 9871 NM_001270974.2:c.9871G>C p.Ala3291Pro p.Ala3291Pro 59 610812 97 3' 89.1802 X.43 0.958713 13.1756 89.1802 X.43 0.958713 13.1756 0 rs1798440 yes no Frequency 1 G 0.000000 0 transversion G C G>C 0.969 2.142 A Ala GCC 0.403 P Pro CCC 0.328 3291 12 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon59:c.G9871C:p.A3291P HYDIN:uc031qwy.1:exon59:c.G9871C:p.A3291P HYDIN:NM_001270974:exon59:c.G9871C:p.A3291P . . 0.472103 . . @ 110 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.304 . @ . . . . . 1 0.029 . . 233.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A3291P|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.59) . . . . . . . -0.7135 -0.436 -0.713 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.663 @ . . . 0.66 0.5 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.328 . . . . D 0.529 0.030 . . 37 . 0.005 . . 0.646 . . . 0.001 0.218 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 0 0.010 . . . . . 0.729 . 0.103 . HET 0.3 rs1798440 0.500 0.500 . . . . . . . . . . 15.2207 . . 5.I 5.I . 0.410000 F8WD23 . . . . . 0.078 . . 5.I . . . . . . . . . . . . . . . . . . . 0.348 . 1.122 1.122000 . . 0.410000 . . 1.0E-255 1.000 0.715 . 0.458 0.060 . 0.404 . 0.221 1.122 0.028 0.5 rs1798440 rs1798440 rs1798440 rs142251979 1 1538 10 1/0 0,222,244 +rs1774423 16 70926334 G C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70926334 70926334 Chr16(GRCh37):g.70926334G>C 9347 9347 NM_001270974.2:c.9347C>G p.Thr3116Arg p.Thr3116Arg 56 610812 -71 5' 94.6711 X.63 0.992583 6.99452 94.6711 X.63 0.992583 6.78301 0 rs1774423 yes no Frequency/HapMap 2 G 0.000000 0 transversion C G C>G 0.961 2.223 T Thr ACA 0.280 R Arg AGA 0.205 3116 12 7 Zebrafish -1 -1 -2 0.71 0.65 8.VI 10.V 61 124 71 C0 353.86 0.00 Deleterious 0.01 III.39 220 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon56:c.C9347G:p.T3116R HYDIN:uc031qwy.1:exon56:c.C9347G:p.T3116R HYDIN:NM_001270974:exon56:c.C9347G:p.T3116R . . 0.21428572 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.671 . @ . . . . . 1 0.372 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T3116R|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.56) . . . . . . . 0.0948 0.117 0.095 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.625 @ . . . 0.53 0.37 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.140 . . . . D 0.695 0.065 . . 37 . 0.019 . . 0.640 . . . 0.805 0.325 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.663 . . 0 0 0 0 0 0 . 0.399 . . 0.405 . . . . . . 0 0.654 . . . . . 0.453 . 0.621 . HET 0.78 rs1774423 0.315 0.254 . . . . . . . . . . X.74 . . IV.86 IV.86 . 0.540000 F8WD23 . . . . . 0.520 . . IV.86 . . . . . . . . . . . . . . . . . . . 0.331 . 2.248 2.248000 . . 0.540000 . . 1.0E-220 0.990 0.367 . 0.322 0.604 . 0.404 . 0.613 2.248 0.917 0.32 rs1774423 rs1774423 rs1774423 rs142759816 1 1538 10 1/0 0,226,255 +rs1798454 16 70926445 A T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70926445 70926445 Chr16(GRCh37):g.70926445A>T 9249-13 9249-13 NM_001270974.2:c.9249-13T>A p.? p.? 56 55 610812 -13 3' 91.3568 10.564 0.986968 7.52037 88.2978 8.94156 0.96437 5.22119 -0.0699886 rs1798454 no no 0 A 0.000000 0 0.000296 0.000404 0.000124 0.000106 0.000112 0.000104 0.000444 0.000162 0.000167 0.000444 77 9 4 1 2 3 53 4 1 260392 22288 32172 9460 17782 28784 119264 24666 5976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 9 4 1 2 3 53 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.087 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.55932206 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.3964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.28 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798454 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.505e-05 0.0001 0 6.058e-05 0.0001 1.847e-05 0 0.0001 0.0012 0.0026 0 0.0045 0.0008 0.0003 0.0046 0.0013 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798454 rs1798454 rs1798454 rs117197810 1 1538 10 1/0 0,255,255 +rs1774433 16 70928314 G C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70928314 70928314 Chr16(GRCh37):g.70928314G>C 9248+38 9248+38 NM_001270974.2:c.9248+38C>G p.? p.? 55 55 610812 38 5' 87.304 VIII.64 0.907768 3.86778 87.304 VIII.64 0.907768 4.00459 0 rs1774433 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 0.286 225 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.39 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774433 0.217 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . 0.22 rs1774433 rs1774433 rs75018720 rs75018720 1 1538 10 1/0 0,219,255 +rs1774439 16 70930002 G T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70930002 70930002 Chr16(GRCh37):g.70930002G>T 9049-19 9049-19 NM_001270974.2:c.9049-19C>A p.? p.? 54 53 610812 -19 3' 89.1947 XI.73 0.980102 9.41574 89.1947 10.1311 0.976473 8.40471 -0.0478252 Cryptic Acceptor Strongly Activated 70930003 1.72357 0.066715 80.1127 2.20411 0.074605 80.1127 rs1774439 yes no Frequency 1 T 0.000000 0 transversion C A C>A 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.52380955 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.0117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.35 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774439 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774439 rs1774439 rs1774439 rs146865292 1 1538 10 1/0 0,255,255 +rs2502696 16 70934994 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70934994 70934994 Chr16(GRCh37):g.70934994C>T 8961 8961 NM_001270974.2:c.8961G>A p.Gly2987= p.Gly2987Gly 53 610812 -88 5' 87.5642 8.40856 0.77825 4.24363 87.5642 8.40856 0.77825 4.24363 0 PapD-like rs2502696 yes no Frequency/HapMap 2 C 0.000000 0 transition G A G>A 0.024 -1.005 G Gly GGG 0.250 G Gly GGA 0.246 2987 214 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon53:c.G8961A:p.G2987G HYDIN:uc031qwy.1:exon53:c.G8961A:p.G2987G HYDIN:NM_001270974:exon53:c.G8961A:p.G2987G . . 0.19607843 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 153.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G2987|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.53) . . . . . . . 0.0249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.24 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2502696 0.152 0.123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . 0.15 rs2502696 rs2502696 rs2502696 rs2502696 1 1538 10 1/0 0,216,255 +rs1774449 16 70942688 A C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70942688 70942688 Chr16(GRCh37):g.70942688A>C 8081 8081 NM_001270974.2:c.8081T>G p.Ile2694Ser p.Ile2694Ser 48 610812 77 3' 81.0546 5.009 0.141893 2.19338 81.0546 5.009 0.141893 2.25818 0 rs1774449 no no 0 G 0.000000 0 transversion T G T>G 0.000 -0.037 I Ile ATT 0.356 S Ser AGT 0.149 2694 12 1 -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 353.86 0.00 Tolerated 0.52 III.53 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon48:c.T8081G:p.I2694S HYDIN:uc031qwy.1:exon48:c.T8081G:p.I2694S HYDIN:NM_001270974:exon48:c.T8081G:p.I2694S . . 0.5546219 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.019 . . 119.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aGt|I2694S|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.48) . . . . . . . -1.4802 -1.405 -1.480 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.194 @ . . . 0.39 0.31 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.411 . . . . . . . Uncertain_significance . 0 . 0.138 . . . . T 0.147 0.006 . . 37 . 0.004 . . 0.429 . . . 0.009 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.027 . . . . . 0.016 . 0.019 . HET 0.01 rs1774449 0.500 0.500 . . . . . . . . . . 1.1031 . . V.49 1.VIII . 0.830000 F8WD23 . . . . . 0.094 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.033 0.033000 . . 0.830000 . . 1.0E-255 0.034 0.205 . 0.142 0.002 . 0.263 . 0.033 0.033 -0.597 0.5 rs1774449 rs1774449 rs1774449 rs147775902 1 1538 10 1/0 0,255,255 +rs1774395 16 70954513 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954513 70954513 Chr16(GRCh37):g.70954513T>C 7766 7766 NM_001270974.2:c.7766A>G p.Lys2589Arg p.Lys2589Arg 46 610812 -20 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 9.21273 0 rs1774395 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 -1.651 K Lys AAG 0.575 R Arg AGG 0.207 2589 12 7 Zebrafish 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 0.17 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.A7766G:p.K2589R HYDIN:uc031qwy.1:exon46:c.A7766G:p.K2589R HYDIN:NM_001270974:exon46:c.A7766G:p.K2589R . . 0.43243244 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.082 . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K2589R|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -1.7107 -1.785 -1.711 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.005 @ . . . 0.38 0.4 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.136 . . . . T 0.370 0.016 . . 37 . 0.007 . . 0.474 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.080 . . . . . 0.998 . 0.035 . HET 0.71 rs1774395 0.500 0.500 . . . . . . . . . . 20.8756 . . V.89 -9.55 . 0.600000 F8WD23 . . . . . 0.048 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -1.765 -1.765000 . . 0.600000 . . 1.0E-255 0.065 0.217 . 0.172 0.410 . 0.035 . 0.027 -1.765 -0.243 0.5 rs1774395 rs1774395 rs1774395 rs1774395 1 1538 10 1/0 0,250,255 +rs8044001 16 70954571 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954571 70954571 Chr16(GRCh37):g.70954571C>T 7708 7708 NM_001270974.2:c.7708G>A p.Asp2570Asn p.Asp2570Asn 46 610812 -78 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 9.26483 0 Cryptic Acceptor Strongly Activated 70954562 0.020649 5.23315 0.009949 75.7118 rs8044001 yes no Frequency 1 T 0.000000 0 transition G A G>A 0.283 0.851 D Asp GAC 0.539 N Asn AAC 0.536 2570 12 2 Chicken 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.G7708A:p.D2570N HYDIN:uc031qwy.1:exon46:c.G7708A:p.D2570N HYDIN:NM_001270974:exon46:c.G7708A:p.D2570N . . 0.38235295 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.204 . @ . . . . . 1 0.025 . . 136.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2570N|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -1.0222 -0.783 -1.022 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.397 @ . . . 0.46 0.34 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.221 . . . . T 0.195 0.007 . . 37 . 0.003 . . 0.420 . . . 0.003 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.024 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.069 . . . . . 0.061 . 0.014 . HET 0.2 rs8044001 . . . . . . . . . . . . 3.1686 . . V.89 III.56 . 0.510000 F8WD23 . . . . . 0.141 . . III.56 . . . . . . . . . . . . . . . . . . . 0.283 . 0.485 0.485000 . . 0.510000 . . 1.0E-255 0.763 0.290 . 0.292 0.015 . 0.336 . 0.240 0.485 -0.328 . rs8044001 rs8044001 rs8044001 rs8044001 1 1538 10 1/0 0,238,255 +rs8045289 16 70954572 T A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70954572 70954572 Chr16(GRCh37):g.70954572T>A 7707 7707 NM_001270974.2:c.7707A>T p.Leu2569= p.Leu2569Leu 46 610812 -79 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 9.49385 0 Cryptic Acceptor Strongly Activated 70954562 0.020649 5.26604 0.235209 81.9895 rs8045289 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.213 -0.521 L Leu CTA 0.070 L Leu CTT 0.129 2569 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.A7707T:p.L2569L HYDIN:uc031qwy.1:exon46:c.A7707T:p.L2569L HYDIN:NM_001270974:exon46:c.A7707T:p.L2569L . . 0.38059703 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 134.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctA/ctT|L2569|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . 0.3652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.34 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs8045289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs8045289 rs8045289 rs8045289 rs8045289 1 1538 10 1/0 0,239,255 +rs8044142 16 70954606 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954606 70954606 Chr16(GRCh37):g.70954606C>T 7673 7673 NM_001270974.2:c.7673G>A p.Gly2558Glu p.Gly2558Glu 46 610812 -113 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 IX.06 0 rs8044142 yes no Frequency/HapMap 2 C 0.000000 0 transition G A G>A 0.992 1.174 G Gly GGG 0.250 E Glu GAG 0.583 2558 12 2 Northern white-cheeked gibbon -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 0.87 III.53 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.G7673A:p.G2558E HYDIN:uc031qwy.1:exon46:c.G7673A:p.G2558E HYDIN:NM_001270974:exon46:c.G7673A:p.G2558E . . 0.38655463 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.315 . . 119.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G2558E|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -0.3051 -0.302 -0.305 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.441 @ . . . 0.39 0.31 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.147 . . . . T 0.422 0.020 . . 37 . 0.017 . . 0.597 . . . 0.597 0.285 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.249 . . 0 0 0 0 0 0 . 0.715 . . 0.679 . . . . . . 0 0.030 . . . . . 0.583 . 0.644 . HET 0 rs8044142 0.500 0.500 . . . . . . . . . . 13.0706 . . V.89 3.IX . 1.000000 F8WD23 . . . . . 0.286 . . 3.IX . . . . . . . . . . . . . . . . . . . 0.083 . 0.801 0.801000 . . 1.000000 . . 1.0E-255 0.900 0.312 . 0.223 0.958 . 0.391 . 0.159 0.801 0.871 0.5 rs8044142 rs8044142 rs8044142 rs74249268 1 1538 10 1/0 0,244,255 +rs1798528 16 70954691 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954691 70954691 Chr16(GRCh37):g.70954691T>C 7588 7588 NM_001270974.2:c.7588A>G p.Lys2530Glu p.Lys2530Glu 46 610812 -198 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 IX.06 0 rs1798528 no no 0 T 0.000000 0 transition A G A>G 0.992 0.448 K Lys AAG 0.575 E Glu GAG 0.583 2530 12 6 Zebrafish 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Deleterious 0.02 III.39 226 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.A7588G:p.K2530E HYDIN:uc031qwy.1:exon46:c.A7588G:p.K2530E HYDIN:NM_001270974:exon46:c.A7588G:p.K2530E . . 0.23188406 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.347 . @ . . . . . 1 0.563 . . 69.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K2530E|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -0.1105 -0.018 -0.111 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.400 @ . . . 0.45 0.4 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.363 0.015 . . 37 . 0.011 . . 0.731 . . . 0.488 0.211 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.373 . . 0 0 0 0 0 0 . 0.458 . . 0.413 . . . . . . 0 0.094 . . . . . 0.502 . 0.313 . HET 0.17 rs1798528 0.152 0.130 . . . . . . . . . . XI.78 . . V.89 III.58 . 0.600000 F8WD23 . . . . . 0.378 . . III.58 . . . . . . . . . . . . . . . . . . . 0.083 . 0.445 0.445000 . . 0.600000 . . 1.0000000000000001E-226 1.000 0.715 . 0.625 1.000 . 0.370 . 0.807 0.445 0.991 0.15 rs1798528 rs1798528 rs1798528 rs1798528 1 1538 10 1/0 0,253,255 +. 16 70954703 GGCGCTCCTTCTCCGT G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 deletion in-frame exon GRCh37 70954704 70954718 Chr16(GRCh37):g.70954704_70954718del 7561 7575 NM_001270974.2:c.7561_7575del p.Thr2521_Arg2525del p.Thr2521_Arg2525del 46 610812 -211 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 IX.06 0 rs67115747 yes no Frequency/1000G 2 0.000000 0 ACGGAGAAGGAGCGC 255 Pass . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.7561_7575del:p.2521_2525del HYDIN:uc031qwy.1:exon46:c.7561_7575del:p.2521_2525del HYDIN:NM_001270974:exon46:c.7561_7575del:p.2521_2525del . . 0.3857143 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 70 . . CODON_DELETION(MODERATE||acggagaaggagcgc/-|TEKER2521-|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375727122 0.163 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs67115747 rs67115747 1 1538 10 1.I 0,12,41 +rs1798529 16 70954774 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954774 70954774 Chr16(GRCh37):g.70954774A>G 7505 7505 NM_001270974.2:c.7505T>C p.Leu2502Ser p.Leu2502Ser 46 610812 -281 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 IX.06 0 Cryptic Donor Strongly Activated 70954772 2.89397 0.020538 66.6896 5.01476 0.033428 70.8177 rs1798529 yes no Frequency/1000G 2 G 0.000000 0 transition T C T>C 0.551 2.465 L Leu TTG 0.127 S Ser TCG 0.056 2502 12 1 -3 -2 -4 0 I.42 4.IX 9.II 111 32 145 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.T7505C:p.L2502S HYDIN:uc031qwy.1:exon46:c.T7505C:p.L2502S HYDIN:NM_001270974:exon46:c.T7505C:p.L2502S . . 0.5232558 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.105 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tCg|L2502S|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -0.8708 -0.641 -0.871 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.947 @ . . . 0.47 0.45 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.085 . . . . T 0.296 0.012 . . 37 . 0.005 . . 0.339 . . . 0.001 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.025 . . . . . 0.594 . 0.048 . HET 0 rs1798529 0.500 0.493 . . . . . . . . . . 13.2697 . . V.89 V.89 . 1.000000 F8WD23 . . . . . 0.051 . . V.89 . . . . . . . . . . . . . . . . . . . 0.083 . 1.514 1.514000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.074 0.061 . 0.665 . 0.222 1.514 0.024 0.5 rs1798529 rs1798529 rs1798529 rs1798529 1 1538 10 1/0 0,255,255 +rs1798530 16 70954809 C A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70954809 70954809 Chr16(GRCh37):g.70954809C>A 7470 7470 NM_001270974.2:c.7470G>T p.Ala2490= p.Ala2490Ala 46 610812 312 3' 80.1914 X.73 0.942928 X.22 80.1914 X.73 0.942928 X.22 0 rs1798530 yes no Frequency/1000G 2 C 0.000000 0 transversion G T G>T 0.000 -0.037 A Ala GCG 0.107 A Ala GCT 0.263 2490 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.G7470T:p.A2490A HYDIN:uc031qwy.1:exon46:c.G7470T:p.A2490A HYDIN:NM_001270974:exon46:c.G7470T:p.A2490A . . 0.425 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 120.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcT|A2490|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . 0.3321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.31 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798530 0.424 0.449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 rs1798530 rs1798530 rs1798530 rs1798530 1 1538 10 1/0 0,247,255 +rs1798532 16 70954945 T A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954945 70954945 Chr16(GRCh37):g.70954945T>A 7334 7334 NM_001270974.2:c.7334A>T p.Asn2445Ile p.Asn2445Ile 46 610812 176 3' 80.1914 X.73 0.942928 X.22 80.1914 X.73 0.942928 X.22 0 rs1798532 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 1.093 N Asn AAC 0.536 I Ile ATC 0.481 2445 12 1 -2 -3 -6 I.33 0 11.VI 5.II 56 111 149 C0 353.86 0.00 Tolerated 0.87 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.A7334T:p.N2445I HYDIN:uc031qwy.1:exon46:c.A7334T:p.N2445I HYDIN:NM_001270974:exon46:c.A7334T:p.N2445I . . 0.46721312 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.198 . @ . . . . . 1 0.053 . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aTc|N2445I|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -1.0284 -0.909 -1.028 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.947 @ . . . 0.52 0.42 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . T 0.265 0.010 . . 37 . 0.007 . . 0.477 . . . 0.019 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.136 . . . . . 0.214 . 0.039 . HET 0 rs1798532 0.500 0.500 . . . . . . . . . . VI.18 . . V.89 V.89 . 0.190000 F8WD23 . . . . . 0.016 . . V.89 . . . . . . . . . . . . . . . . . . . 0.283 . 1.057 1.057000 . . 0.190000 . . 1.0E-255 0.013 0.187 . 0.083 0.005 . 0.449 . 0.267 1.057 0.127 0.5 rs1798532 rs1798532 rs1798532 rs1798532 1 1538 10 1/0 0,251,255 +rs1798396 16 70967558 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70967558 70967558 Chr16(GRCh37):g.70967558G>A 7158+2297 7158+2297 NM_001270974.2:c.7158+2297C>T p.? p.? 45 45 610812 2297 5' 81.9751 8.87834 0.879322 9.19044 81.9751 8.87834 0.879322 9.19044 0 rs1798396 no no 0 G 0.000000 0 0.001221 0.000000 0.001220 0.011029 0.000000 0.000000 0.002007 0.000000 0.004211 0.011029 37 0 1 3 0 0 29 0 4 30300 8700 820 272 1620 0 14446 3492 950 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 0 1 3 0 0 29 0 4 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition C T C>T 0.008 0.448 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.2932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.16 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798396 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0012 0.0012 0.0110 0 0 0.0020 0.0042 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798396 rs1798396 rs1798396 rs144029019 1 1538 10 1/0 0,255,255 +rs1774371 16 70967634 T A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70967634 70967634 Chr16(GRCh37):g.70967634T>A 7158+2221 7158+2221 NM_001270974.2:c.7158+2221A>T p.? p.? 45 45 610812 2221 5' 81.9751 8.87834 0.879322 9.19044 81.9751 8.87834 0.879322 9.19044 0 Cryptic Acceptor Strongly Activated 70967629 1.91916 0.006248 63.4563 4.39774 0.210086 70.1524 rs1774371 no no 0 T 0.000000 0 transversion A T A>T 0.016 0.367 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.2927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.31 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774371 0.489 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.49 rs1774371 rs1774371 rs1774371 rs1774371 1 1538 10 1/0 0,255,255 +rs1774360 16 70972620 G C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70972620 70972620 Chr16(GRCh37):g.70972620G>C 6892 6892 NM_001270974.2:c.6892C>G p.Arg2298Gly p.Arg2298Gly 44 610812 39 3' 84.9803 XI.88 0.974465 XII.52 84.9803 XI.88 0.974465 XII.46 0 P-loop containing nucleoside triphosphate hydrolase rs1774360 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.984 3.111 R Arg CGT 0.082 G Gly GGT 0.162 2298 12 7 Frog -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0 III.53 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon44:c.C6892G:p.R2298G HYDIN:uc031qwy.1:exon44:c.C6892G:p.R2298G HYDIN:NM_001270974:exon44:c.C6892G:p.R2298G . . 0.41964287 . . @ 94 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.818 . @ . . . . . 1 0.984 . . 224.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R2298G|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.44) . . . . . . . 0.6291 0.650 0.629 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.849 @ . . . 0.21 0.34 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.336 . . . . D 0.617 0.045 . . 37 . 0.038 . . 0.590 . . . 0.758 0.378 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.662 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.512 . . . . . 0.940 . 0.680 . HET 0.4 rs1774360 0.489 0.493 . . . . . . . . . . 19.2678 . . 5.VI 5.VI . 0.020000 F8WD23 . . . . . 0.638 . . 5.VI . . . . . . . . . . . . . . . . . . . 0.185 . 2.660 2.660000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.512 0.978 . 0.621 . 0.713 2.660 0.917 0.49 rs1774360 rs1774360 rs1774360 rs1774360 1 1538 10 1/0 0,220,251 +rs1616432 16 70972701 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70972701 70972701 Chr16(GRCh37):g.70972701T>C 6854-43 6854-43 NM_001270974.2:c.6854-43A>G p.? p.? 44 43 610812 -43 3' 84.9803 XI.88 0.974465 XII.52 84.9803 XI.88 0.974465 13.1928 0 70972701 -83.5508 rs1616432 yes no Frequency 1 C 0.000000 0 0.001104 0.007478 0.001578 0.000000 0.000000 0.000628 0.000352 0.000000 0.000940 0.007478 301 178 54 0 0 19 44 0 6 272748 23802 34220 9930 18754 30242 124858 24556 6386 0.000015 0.000000 0.000058 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 2 0 1 0 0 0 1 0 0 297 178 52 0 0 19 42 0 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -2.539 255 PASS . . . . . . . . . . . . . . . . 0.44927537 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.4922 . . . . . . . . 3.028e-04 . . . 0.0016 0.0003 0.0004 0 0 9.717e-05 0.0015 6.338e-05 0.0012 0.0001 0.0002 0 0 1.888e-05 0 6.375e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.45 182 ENSG00000157423 HYDIN HYDIN . . . . . . 1011 0.0155596 64976 1004 0.0167372 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1616432 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0007 0.0016 0 0 0 0.0003 0.0007 0.0006 0.0128 0.0041 0.0024 0 0 0 0.0008 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1616432 rs1616432 rs1616432 rs1616432 1 1538 10 1/0 0,246,255 +rs2258307 16 70975667 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70975667 70975667 Chr16(GRCh37):g.70975667T>C 6725 6725 NM_001270974.2:c.6725A>G p.Gln2242Arg p.Gln2242Arg 43 610812 56 3' 84.8713 X.72 0.954333 X.72 84.8713 X.72 0.954333 X.99 0 Cryptic Acceptor Strongly Activated 70975655 0.001111 3.40739 0.001468 70.0426 P-loop containing nucleoside triphosphate hydrolase rs2258307 yes no Frequency 1 C 0.000000 0 0.002065 0.001815 0.003842 0.001334 0.006557 0.002220 0.001548 0.000080 0.003175 0.006557 496 38 100 12 94 56 177 2 17 240170 20934 26028 8998 14336 25220 114362 24938 5354 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 496 38 100 12 94 56 177 2 17 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.323 0.609 Q Gln CAG 0.744 R Arg CGG 0.207 2242 12 1 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon43:c.A6725G:p.Q2242R HYDIN:uc031qwy.1:exon43:c.A6725G:p.Q2242R HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R . . 0.46560848 . . @ 88 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.002 . . 189.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q2242R|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.43) . . . . . . . -2.0233 -1.836 -2.023 c . . . . . 7.977e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.248 . . exonic exonic exonic . . 0.276 @ . . . 0.47 0.4 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.311 . . . . T 0.067 0.003 . . 37 . 0.039 . . 0.419 . . . 0.001 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.289 . 0.003 . HET 0.58 rs2258307 0.489 0.493 . . . . . . . . . . VII.12 . . V.32 2.III . 1.000000 F8WD23 . . . . . 0.019 . . 2.III 0.0026 0.0023 0.0039 0.0014 0.0073 4.613e-05 0.0017 0.0038 0.0022 0.0005 0.0003 0.0013 0 0 0.0003 0.0002 0 . . 0.223 . 0.074 0.074000 . . 1.000000 . . 1.0E-255 0.004 0.165 . 0.108 0.124 . 0.230 . 0.028 0.074 -1.875 0.49 rs2258307 rs2258307 rs2258307 rs117379722 1 1538 10 1/0 0,231,255 +rs148438433 16 70977969 A C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70977969 70977969 Chr16(GRCh37):g.70977969A>C 6532-117 6532-117 NM_001270974.2:c.6532-117T>G p.? p.? 42 41 610812 -117 3' 76.8651 8.20109 0.939216 8.27468 76.8651 8.20109 0.939216 8.27468 0 rs148438433 yes no Frequency/1000G 2 A 0.000000 0 0.003594 0.000000 0.000000 0.000000 0.008900 0.013000 0.009655 0.002176 0.008373 0.029801 0.000000 0.000000 0.014661 0.010029 0.009165 0.029801 299 19 7 9 0 0 220 35 9 30968 8730 836 302 1622 0 15006 3490 982 0.006689 0.000000 0.000000 0.000000 0.000000 0.000000 0.009091 0.000000 0.000000 2 0 0 0 0 0 2 0 0 295 19 7 9 0 0 216 35 9 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion T G T>G 0.000 -0.360 255 PASS . 0.0041 0.01 . 0.01 . 0.0036 0.013 . 0.0089 . . . . . . 0.52427185 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.19 0.15 182 ENSG00000157423 HYDIN HYDIN . . . . . . 772 0.0118813 64976 754 0.0125696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148438433 0.011 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0097 0.0084 0.0298 0 0.0100 0.0147 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs148438433 rs148438433 1 1538 10 1/0 0,255,255 +rs2458386 16 70986480 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70986480 70986480 Chr16(GRCh37):g.70986480G>A 6375 6375 NM_001270974.2:c.6375C>T p.Thr2125= p.Thr2125Thr 41 610812 59 3' 77.1579 8.926 0.96995 6.37807 77.1579 8.926 0.96995 6.15452 0 P-loop containing nucleoside triphosphate hydrolase rs2458386 no no 0 G 0.000000 0 transition C T C>T 0.961 0.286 T Thr ACC 0.361 T Thr ACT 0.243 2125 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon41:c.C6375T:p.T2125T HYDIN:uc031qwy.1:exon41:c.C6375T:p.T2125T HYDIN:NM_001270974:exon41:c.C6375T:p.T2125T . . 0.4526316 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 95.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T2125|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.41) . . . . . . . 0.8210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.35 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2458386 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs2458386 rs2458386 rs2458386 rs115852469 1 1538 10 1/0 0,255,255 +rs1798337 16 70989299 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70989299 70989299 Chr16(GRCh37):g.70989299C>T 6295 6295 NM_001270974.2:c.6295G>A p.Val2099Met p.Val2099Met 40 610812 -22 5' 86.16 9.44859 0.971875 5.41019 86.16 9.44859 0.971875 5.54703 0 P-loop containing nucleoside triphosphate hydrolase rs1798337 yes no Frequency/HapMap/1000G 3 T 0.000000 0 transition G A G>A 0.732 0.367 V Val GTG 0.468 M Met ATG 1.000 2099 12 1 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.47 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon40:c.G6295A:p.V2099M HYDIN:uc031qwy.1:exon40:c.G6295A:p.V2099M HYDIN:NM_001270974:exon40:c.G6295A:p.V2099M . . 0.4526316 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.313 . @ . . . . . 1 0.017 . . 95.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2099M|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.40) . . . . . . . -1.0550 -0.810 -1.055 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.225 . . exonic exonic exonic . . 0.387 @ . . . 0.5 0.38 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.120 . . . . T 0.175 0.007 . . 37 . 0.041 . . 0.255 . . . 0.002 0.201 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.043 . . . . . 0.036 . 0.088 . HET 0.15 rs1798337 0.500 0.500 . . . . . . . . . . 2.1895 . . IV.66 III.47 . 0.670000 F8WD23 . . . . . 0.169 . . III.47 . . . . . . . . . . . . . . . . . . . 0.223 . 0.737 0.737000 . . 0.670000 . . 1.0E-255 0.964 0.336 . 0.345 0.914 . 0.236 . 0.195 0.737 -0.328 0.5 rs1798337 rs1798337 rs1798337 rs115844546 1 1538 10 1/0 0,255,255 +rs1774541 16 70989335 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70989335 70989335 Chr16(GRCh37):g.70989335G>A 6259 6259 NM_001270974.2:c.6259C>T p.Arg2087Cys p.Arg2087Cys 40 610812 -58 5' 86.16 9.44859 0.971875 5.41019 86.16 9.44859 0.971875 5.42562 0 P-loop containing nucleoside triphosphate hydrolase rs1774541 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000029 0.000000 0.000000 0.000099 0.000318 0.000000 0.000008 0.000000 0.000000 0.000318 8 0 0 1 6 0 1 0 0 276814 24016 34414 10142 18846 30774 126378 25786 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 1 6 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 2.627 R Arg CGT 0.082 C Cys TGT 0.448 2087 12 9 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 III.39 255 PASS . . . . . . 0.0004 . 0.002 . . ENSG00000157423:ENST00000393567:exon40:c.C6259T:p.R2087C HYDIN:uc031qwy.1:exon40:c.C6259T:p.R2087C HYDIN:NM_001270974:exon40:c.C6259T:p.R2087C . . 0.45967743 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.937 . @ . . . . . 1 0.996 . . 124.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R2087C|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.40) . . . . . . . 0.5314 0.452 0.531 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.425 . . exonic exonic exonic . . 0.577 0.0004 . . . 0.52 0.38 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.323 . . . . D 0.729 0.078 . . 37 . 0.616 . . 0.653 . . . 0.798 0.495 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.874 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.784 . . . . . 0.556 . 0.739 . HET 0 rs1774541 0.500 0.500 . . . . . . . . . . XII.09 . . IV.66 IV.66 . 0.020000 F8WD23 . . . . . 0.330 . . IV.66 0 1.627e-05 0 0 0.0002 0 0 0 0 0 0.0001 0 0.0033 0.0012 0 6.661e-05 0 . . 0.393 . 2.286 2.286000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.393 0.996 . 0.479 . 0.551 2.286 0.917 0.5 rs1774541 rs1774541 rs1774541 rs116739010 1 1538 10 1/0 0,248,255 +rs1798348 16 70993775 C A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70993775 70993775 Chr16(GRCh37):g.70993775C>A 5969-52 5969-52 NM_001270974.2:c.5969-52G>T p.? p.? 39 38 610812 -52 3' 87.6921 8.14237 0.156156 6.71819 87.6921 8.14237 0.156156 6.43837 0 Cryptic Acceptor Strongly Activated 70993766 II.74 0.010259 71.8373 5.74242 0.126501 77.29 rs1798348 yes no Frequency/HapMap 2 C 0.000000 0 transversion G T G>T 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.48333332 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.2120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.23 0.25 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798348 0.098 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs1798348 rs1798348 rs1798348 rs1798348 1 1538 10 1/0 0,255,255 +rs1512631 16 70998603 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70998603 70998603 Chr16(GRCh37):g.70998603T>C 5788+28 5788+28 NM_001270974.2:c.5788+28A>G p.? p.? 37 37 610812 28 5' 81.491 7.22671 0.975749 IV.74 81.491 7.22671 0.975749 4.41023 0 rs1512631 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41830066 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.46 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1512631 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1512631 rs1512631 rs1512631 rs146920901 1 1538 10 1/0 0,232,251 +rs1512633 16 71004695 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71004695 71004695 Chr16(GRCh37):g.71004695G>A 5380-33 5380-33 NM_001270974.2:c.5380-33C>T p.? p.? 36 35 610812 -33 3' 94.2749 9.11849 0.977978 7.75258 94.2749 9.11849 0.977978 7.53139 0 Cryptic Acceptor Weakly Activated 71004690 0.179152 57.0513 1.74397 2,00E-06 60.5969 71004692 -13.8503 rs1512633 yes no Frequency 1 A 0.000000 0 0.000163 0.000926 0.000446 0.000000 0.000000 0.000034 0.000033 0.000000 0.000316 0.000926 44 22 15 0 0 1 4 0 2 269982 23756 33622 9802 18658 29654 122718 25440 6332 0.000007 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 42 22 13 0 0 1 4 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.40350878 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.4392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.21 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1512633 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0.0005 0 0 0 1.857e-05 0.0002 3.372e-05 0.0017 0.0006 0 0 0 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1512633 rs1512633 rs1512633 rs115824489 1 1538 10 1/0 0,255,255 +rs783762 16 71007809 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71007809 71007809 Chr16(GRCh37):g.71007809C>T 5152 5152 NM_001270974.2:c.5152G>A p.Val1718Met p.Val1718Met 34 610812 -78 5' 87.5418 8.88433 0.992642 5.24386 87.5418 8.88433 0.992642 5.50081 0 rs783762 yes no Frequency/HapMap 2 C 0.000000 0 transition G A G>A 0.984 1.093 V Val GTG 0.468 M Met ATG 1.000 1718 12 7 Zebrafish 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0.04 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon34:c.G5152A:p.V1718M HYDIN:uc031qwy.1:exon34:c.G5152A:p.V1718M HYDIN:NM_001270974:exon34:c.G5152A:p.V1718M . . 0.45038167 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.629 . @ . . . . . 1 0.646 . . 131.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1718M|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.34) . . . . . . . -0.0900 -0.055 -0.090 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.235 @ . . . 0.42 0.28 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.446 . . . . . . . Uncertain_significance . 0 . 0.171 . . . . T 0.338 0.014 . . 37 . 0.374 . . 0.494 . . . 0.384 0.251 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.326 . . 0.276 . . . . . . 0 0.413 . . . . . 0.304 . 0.297 . HET 0.01 rs783762 0.141 0.109 . . . . . . . . . . VIII.39 . . IV.82 I.73 . 0.020000 F8WD23 . . . . . 0.426 . . . . . . . . . . . . . . . . . . . . . . 0.348 . 0.553 0.553000 . . 0.020000 . . 1.0E-255 0.783 0.293 . 0.452 0.989 . 0.310 . 0.490 0.553 0.871 0.14 rs783762 rs783762 rs783762 rs200219660 1 1538 10 1/0 0,244,255 +rs1774293 16 71008169 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71008169 71008169 Chr16(GRCh37):g.71008169T>C 4944 4944 NM_001270974.2:c.4944A>G p.Leu1648= p.Leu1648Leu 33 610812 35 3' 90.1127 9.18386 0.881 8.46649 90.1127 9.18386 0.881 9.09821 0 rs1774293 no no 0 C 0.000000 0 transition A G A>G 0.992 0.286 L Leu CTA 0.070 L Leu CTG 0.404 1648 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon33:c.A4944G:p.L1648L HYDIN:uc031qwy.1:exon33:c.A4944G:p.L1648L HYDIN:NM_001270974:exon33:c.A4944G:p.L1648L . . 0.53846157 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L1648|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.33) . . . . . . . 0.9351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.33 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774293 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774293 rs1774293 rs1774293 rs115159786 1 1538 10 1/0 0,255,255 +rs1798537 16 71015482 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71015482 71015482 Chr16(GRCh37):g.71015482G>A 4333-11 4333-11 NM_001270974.2:c.4333-11C>T p.? p.? 29 28 610812 -11 3' 81.7195 7.30594 0.801227 2.90064 85.8214 8.07606 0.8824 3.27395 0.0856384 Cryptic Acceptor Strongly Activated 71015471 7.30594 0.801227 81.7195 8.07606 0.8824 85.8214 rs1798537 no no 0 G 0.000000 0 transition C T C>T 0.024 0.528 255 PASS . . . . . . . . . . . . . . . . 0.59574467 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.7800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.44 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798537 0.500 0.500 . . . . . . . . . . . . . . . . . . 0.0004 0.062 . . . . . . II.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798537 rs1798537 rs1798537 rs114876278 1 1538 10 1/0 0,255,255 +rs1774516 16 71025245 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71025245 71025245 Chr16(GRCh37):g.71025245C>T 3840 3840 NM_001270974.2:c.3840G>A p.Thr1280= p.Thr1280Thr 25 610812 -25 5' 68.5262 3.68127 0.289625 0 68.5262 3.68127 0.289625 0 0 rs1774516 yes no Frequency 1 C 0.000000 0 0.000073 0.000173 0.000029 0.000000 0.000107 0.000000 0.000096 0.000040 0.000000 0.000173 20 4 1 0 2 0 12 1 0 273692 23156 34310 10122 18622 30776 125090 25246 6370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 4 1 0 2 0 12 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.732 T Thr ACG 0.116 T Thr ACA 0.280 1280 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon25:c.G3840A:p.T1280T HYDIN:uc031qwy.1:exon25:c.G3840A:p.T1280T HYDIN:NM_001270974:exon25:c.G3840A:p.T1280T . . 0.4878049 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1280|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.25) . . . . . . . -0.1850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.12 0.24 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774516 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.851e-05 0 0 0 4.552e-05 5.388e-05 0 0 0.0005 0.0005 0.0013 0 0.0014 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774516 rs1774516 rs1774516 rs116894611 1 1538 10 1/0 0,255,255 +rs783748 16 71025325 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71025325 71025325 Chr16(GRCh37):g.71025325A>G 3786-26 3786-26 NM_001270974.2:c.3786-26T>C p.? p.? 25 24 610812 -26 3' 75.1323 5.54425 0.821885 6.08892 75.1323 5.54425 0.821885 6.00286 0 rs783748 yes no Frequency/HapMap 2 A 0.000000 0 0.000184 0.001856 0.000175 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.001856 51 44 6 0 0 0 0 1 0 276706 23708 34378 10148 18866 30778 126656 25728 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 44 6 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.772 1.577 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.6983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.26 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs783748 0.120 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . II.88 0.0015 0.0001 0.0002 0 0 0 0 0 0 0.0026 0.0007 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs783748 rs783748 rs783748 rs139397140 1 1538 10 1/0 0,255,255 +rs1798502 16 71025776 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71025776 71025776 Chr16(GRCh37):g.71025776T>C 3785+197 3785+197 NM_001270974.2:c.3785+197A>G p.? p.? 24 24 610812 197 5' 83.7359 8.06524 0.95353 0 83.7359 8.06524 0.95353 0 0 rs1798502 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.016 0.932 255 PASS . . . . . . . . . . . . . . . . 0.5494506 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.2920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.41 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798502 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798502 rs1798502 rs1798502 rs144695325 1 1538 10 1/0 0,255,255 +rs1774514 16 71025948 T A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71025948 71025948 Chr16(GRCh37):g.71025948T>A 3785+25 3785+25 NM_001270974.2:c.3785+25A>T p.? p.? 24 24 610812 25 5' 83.7359 8.06524 0.95353 0 83.7359 8.06524 0.95353 0 0 rs1774514 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.4027778 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.0633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.1 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774514 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774514 rs1774514 rs1774514 rs146094483 1 1538 10 1/0 0,255,255 +rs1774513 16 71026076 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71026076 71026076 Chr16(GRCh37):g.71026076C>G 3682 3682 NM_001270974.2:c.3682G>C p.Val1228Leu p.Val1228Leu 24 610812 38 3' 77.0336 8.79984 0.783498 5.01628 77.0336 8.79984 0.783498 5.20663 0 Cryptic Acceptor Strongly Activated 71026067 0.198107 0.097085 6.23741 0.391555 75.6842 rs1774513 no no 0 G 0.000000 0 transversion G C G>C 0.000 -0.924 V Val GTG 0.468 L Leu CTG 0.404 1228 12 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . . HYDIN:uc031qwy.1:exon24:c.G3682C:p.V1228L HYDIN:NM_001270974:exon24:c.G3682C:p.V1228L . . 0.50961536 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.006 . . 104.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V1228L|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.24) . . . . . . . -1.6193 -1.588 -1.619 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.043 @ . . . 0.14 0.22 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.127 . . . . T 0.178 0.007 . . 37 . 0.010 . . 0.448 . . . 0.006 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.022 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.021 . . . . . 0.063 . 0.026 . HET 0 rs1774513 0.500 0.500 . . . . . . . . . . III.54 . . 5.VII -3.55 . 0.730000 F8WD23 . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.185 . -0.468 -0.468000 . . 0.730000 . . 1.0E-255 0.000 0.063 . 0.095 0.198 . 0.047 . 0.101 -0.468 -1.260 0.5 rs1774513 rs1774513 rs1774513 rs117974257 1 1538 10 1/0 0,255,255 +rs6416709 16 71054178 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71054178 71054178 Chr16(GRCh37):g.71054178T>C 3229 3229 NM_001270974.2:c.3229A>G p.Ile1077Val p.Ile1077Val 22 610812 43 3' 94.3025 11.078 0.993089 XI.74 94.3025 11.078 0.993089 12.0785 0 rs6416709 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000036 0.000000 0.000149 0.000000 0.000000 0.000033 0.000032 0.000000 0.000000 0.000149 10 0 5 0 0 1 4 0 0 275056 23940 33650 10124 18558 30582 126040 25774 6388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 5 0 0 1 4 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.583 -0.037 I Ile ATA 0.163 V Val GTA 0.114 1077 12 4 Mouse 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Tolerated 0.11 III.37 212 PASS . . . . . . 0.0004 0.0029 . . . . HYDIN:uc031qwy.1:exon22:c.A3229G:p.I1077V HYDIN:NM_001270974:exon22:c.A3229G:p.I1077V . . 0.19444445 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.130 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I1077V|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.22) . . . . . . . -0.9816 -0.966 -0.982 c . . . . . 1.117e-04 . . . 0 0.0001 8.697e-05 0 0 0.0002 0 0.0002 0 5.722e-05 8.965e-05 0 0 3.704e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.063 . . exonic exonic exonic . . 0.153 0.0004 . . . 0.53 0.6 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.405 . 942 0.0144977 64976 942 0.0157037 59986 Uncertain_significance . 0 . 0.089 . . . . T 0.081 0.004 . . 37 . 0.064 . . 0.330 . . . 0.769 0.205 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.160 . . 0 0 0 0 0 0 . 0.090 . . 0.104 . . . . . . 0 0.176 . . . . . 0.022 . 0.223 . HET 0.11 rs6416709 0.500 0.500 . . . . . . . . . . I.03 . . IV.61 0.358 . 0.470000 F8WD23 . . . . . 0.138 . . . 0 4.096e-05 0.0002 0 0 0 3.602e-05 0 3.27e-05 0 0 0 0 0 0 0 0 . . 0.214 . 0.228 0.228000 . . 0.470000 . . 1.0E-212 0.005 0.169 . 0.536 0.142 . 0.090 . 0.211 0.228 -0.013 0.5 rs6416709 rs6416709 rs6416709 rs117718337 1 1538 10 1/0 0,255,255 +rs1022220 16 71061495 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71061495 71061495 Chr16(GRCh37):g.71061495A>G 3042+10 3042+10 NM_001270974.2:c.3042+10T>C p.? p.? 20 20 610812 10 5' 85.7138 9.16003 0.995964 2.54456 85.7138 9.16003 0.995964 2.29415 0 rs1022220 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245500 15282 33466 9834 17166 30712 111286 22294 5460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 62 Exomes transition T C T>C 0.000 -1.651 255 PASS . . . . . . . . . . . . HYDIN:uc021tkq.2:exon20:c.T3052C:p.X1018Q HYDIN:NM_017558:exon20:c.T3052C:p.X1018Q . . 0.6039604 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.243 . @ . . . . . 0 0.026 . . 101.0 . . . . . . . . . . -0.9495 -1.145 -0.949 c . . . . . . . . . . . . . . . . . . . . . . . . . stoploss stoploss stoploss . . . exonic exonic exonic . . 0.012 @ . . . 0.46 0.35 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.027 . . . HET 0.58 rs1022220 0.500 0.500 . . . . . . . . . . 1.689 . . IV.85 -7.48 . . . . . . . . 0.006 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.014 . -1.083 -1.083000 . . . . . 1.0E-255 0.000 0.063 . 0.368 0.002 . 0.023 . 0.080 -1.083 -2.985 0.5 rs1022220 rs1022220 rs1022220 rs1022220 1 1538 10 1/0 0,255,255 +rs7188044 16 71095956 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71095956 71095956 Chr16(GRCh37):g.71095956C>G 2376+116 2376+116 NM_001270974.2:c.2376+116G>C p.? p.? 17 17 610812 116 5' 77.6696 6.28579 0.568772 I.74 77.6696 6.28579 0.568772 I.74 0 rs7188044 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.38709676 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.1133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.22 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7188044 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs7188044 rs7188044 rs7188044 rs7188044 1 1538 10 1/0 0,255,255 +rs7189449 16 71095987 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71095987 71095987 Chr16(GRCh37):g.71095987T>C 2376+85 2376+85 NM_001270974.2:c.2376+85A>G p.? p.? 17 17 610812 85 5' 77.6696 6.28579 0.568772 I.74 77.6696 6.28579 0.568772 I.74 0 rs7189449 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.3939394 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.1652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.25 0.33 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7189449 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs7189449 rs7189449 rs7189449 rs7189449 1 1538 10 1/0 0,248,255 +rs3817211 16 71098649 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71098649 71098649 Chr16(GRCh37):g.71098649T>C 2170 2170 NM_001270974.2:c.2170A>G p.Asn724Asp p.Asn724Asp 16 610812 -42 5' 95.6376 X.36 0.995743 6.95794 95.6376 X.36 0.995743 7.43287 0 rs3817211 yes no Frequency 1 T 0.000000 0 transition A G A>G 1.000 3.353 N Asn AAT 0.464 D Asp GAT 0.461 724 12 9 Zebrafish 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Deleterious 0 III.37 255 PASS . . . . . . . . . . . . . . . . 0.48965517 . . @ 71 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.786 . @ . . . . . 1 0.792 . . 145.0 . . . . . . . . . . 0.7308 0.657 0.731 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.092 . . exonic exonic exonic . . 0.610 @ . . . 0.61 0.51 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.345 . . . . D 0.770 0.099 . . 37 . 0.375 . . 0.404 . . . 0.902 0.388 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.788 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.601 . 0.540 . HET 0 rs3817211 0.500 0.500 . . . . . . . . . . 13.3886 . . 4.VIII 4.VIII . 0.000000 . . . . . . 0.442 . . 4.VIII . . . . . . . . . . . . . . . . . . . 0.209 . 1.801 1.801000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.687 . 0.391 1.801 0.991 0.5 rs3817211 rs3817211 rs3817211 rs117626004 1 1538 10 1/0 0,243,255 +rs1108875 16 71100594 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71100594 71100594 Chr16(GRCh37):g.71100594G>A 2075+599 2075+599 NM_001270974.2:c.2075+599C>T p.? p.? 15 15 610812 599 5' 72.1081 7.75781 0.790909 7.35089 72.1081 7.75781 0.790909 7.35089 0 Cryptic Acceptor Strongly Activated 71100582 2.96316 0.00093 73.6896 3.18467 0.001681 77.0043 rs1108875 yes no Frequency 1 A 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30928 8708 836 302 1622 0 14988 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.41379312 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.1637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 intronic . . . @ . . . 0.55 0.58 182 ENSG00000157423 HYDIN HYDIN . uc002ezw.4:c.*547C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1108875 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.233e-05 0 0 0 0 6.672e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1108875 rs1108875 rs1108875 rs1108875 1 1538 10 1/0 0,255,255 +rs10744982 16 71101200 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71101200 71101200 Chr16(GRCh37):g.71101200T>C 2068 2068 NM_001270974.2:c.2068A>G p.Thr690Ala p.Thr690Ala 15 610812 -8 5' 72.1081 7.75781 0.790909 7.35089 72.1081 7.75781 0.790909 7.33047 0 rs10744982 yes no Frequency 1 T 0.000000 0 0.000867 0.003755 0.000737 0.000000 0.001186 0.000328 0.000613 0.000351 0.000939 0.003755 238 89 25 0 22 10 77 9 6 274490 23704 33912 10094 18552 30510 125652 25674 6392 0.000007 0.000000 0.000000 0.000000 0.000108 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 236 89 25 0 20 10 77 9 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4844499|COSM4844499 Cervix|Bone 0.003040|0.001757 329|569 transition A G A>G 1.000 3.434 T Thr ACA 0.280 A Ala GCA 0.226 690 12 7 Frog 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0.05 III.37 255 PASS . . . . . . . . . . . . . . . . 0.37894738 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.756 . @ . . . . . 1 0.582 . . 95.0 . . . . . . . . . . 0.3697 0.395 0.370 c . . . . . 3.079e-04 . . . 0.0008 0.0003 0 0.0004 0 0.0002 0 0.0002 0.0007 0.0002 0 0.0001 0 9.289e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.658 @ . . . 0.48 0.51 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.336 . . . . T 0.399 0.018 . . 37 . 0.251 . . 0.170 . . . 0.488 0.375 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . 0.647 . . 0.640 . . . . . . 0 0.443 . . . . . 0.622 . 0.524 . HET 0.09 rs10744982 0.500 0.500 . . . . . . . . . . 13.7486 . . IV.99 IV.99 . 0.500000 . . . . . . 0.515 . . IV.99 0.0017 0.0005 0.0008 0 0.0009 0 0.0003 0.0006 0.0003 0.0074 0.0041 0 0 0.0037 0.0026 0.0030 0.0031 . . 0.348 . 1.891 1.891000 . . 0.500000 . . 1.0E-255 1.000 0.715 . 0.750 0.995 . 0.520 . 0.600 1.891 0.991 0.5 rs10744982 rs10744982 rs10744982 rs10744982 1 1538 10 1/0 0,253,255 +rs10735134 16 71101270 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71101270 71101270 Chr16(GRCh37):g.71101270C>T 1998 1998 NM_001270974.2:c.1998G>A p.Val666= p.Val666Val 15 610812 24 3' 99.602 13.1525 0.995672 15.973 99.602 13.1525 0.995672 15.4733 0 rs10735134 yes no Frequency 1 T 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000033 0.000009 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 243456 15188 32752 9760 16906 30306 110882 22232 5430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 49 Exomes transition G A G>A 0.992 0.609 V Val GTG 0.468 V Val GTA 0.114 666 255 PASS . . . . . . . . . . . . . . . . 0.3898305 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . -0.2957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.5 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10735134 0.500 0.500 . . . . . . . . . . VIII.37 . ENST00000542890 IV.99 II.94 . . . . . . . . . . . II.94 0 8.215e-06 0 0 0 0 9.019e-06 0 3.3e-05 . . . . . . . . . . . . 0.543 0.543000 . . . . . 1.0E-255 . . . . . . . . . 0.543 . 0.5 rs10735134 rs10735134 rs10735134 rs10735134 1 1538 10 1/0 0,245,255 +rs1398391 16 71103269 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71103269 71103269 Chr16(GRCh37):g.71103269T>C 1875 1875 NM_001270974.2:c.1875A>G p.Pro625= p.Pro625Pro 14 610812 -100 5' 73.5622 5.20384 0.782866 2.71577 73.5622 5.20384 0.782866 2.71577 0 rs1398391 yes no Frequency 1 C 0.000000 0 0.000116 0.001113 0.000000 0.000000 0.000323 0.000000 0.000000 0.000000 0.000000 0.001113 32 26 0 0 6 0 0 0 0 275828 23368 34404 10132 18554 30770 126356 25788 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 26 0 0 6 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.781 P Pro CCA 0.274 P Pro CCG 0.115 625 255 PASS . . . . . . . . . . . . . . . . 0.5507246 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -2.1038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.67 182 ENSG00000157423 HYDIN HYDIN . . . . . . 935 0.0143899 64976 935 0.015587 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1398391 0.500 0.500 . . . . . . . . . . V.48 . ENST00000542890 IV.98 -9.95 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0032 0.0011 0 0 0.0043 0 0 0 . . . . -3.298 -3.298000 . . . . . 1.0E-255 . . . . . . . . . -3.298 . 0.5 rs1398391 rs1398391 rs1398391 rs1398391 1 1538 10 1/0 0,255,255 +rs1398392 16 71103419 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71103419 71103419 Chr16(GRCh37):g.71103419T>C 1739-14 1739-14 NM_001270974.2:c.1739-14A>G p.? p.? 14 13 610812 -14 3' 99.1721 9.44944 0.94061 9.62247 99.1721 10.024 0.944972 XI.82 0.0218151 rs1398392 yes no Frequency 1 T 0.000000 0 0.000272 0.002527 0.000000 0.000000 0.000877 0.000000 0.000000 0.000000 0.000000 0.002527 74 58 0 0 16 0 0 0 0 271634 22948 34072 9992 18254 30420 124096 25506 6346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 74 58 0 0 16 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.024 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4680851 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.3326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.42 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1398392 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0073 0.0025 0 0 0.0122 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1398392 rs1398392 rs1398392 rs113025057 1 1538 10 1/0 0,255,255 +rs1877467 16 71109768 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71109768 71109768 Chr16(GRCh37):g.71109768G>A 1738+4020 1738+4020 NM_001270974.2:c.1738+4020C>T p.? p.? 13 13 610812 4020 5' 82.9985 9.27414 0.964856 2.64501 82.9985 9.27414 0.964856 2.64501 0 rs1877467 no no 0 A 0.000000 0 transition C T C>T 0.016 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.4489796 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.5917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.27 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1877467 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1877467 rs1877467 rs1877467 rs145016618 1 1538 10 1/0 0,255,255 +rs2036978 16 71109904 C A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71109904 71109904 Chr16(GRCh37):g.71109904C>A 1738+3884 1738+3884 NM_001270974.2:c.1738+3884G>T p.? p.? 13 13 610812 3884 5' 82.9985 9.27414 0.964856 2.64501 82.9985 9.27414 0.964856 2.64501 0 Cryptic Acceptor Strongly Activated 71109891 5.45618 0.617316 79.4259 7.96066 0.901357 84.8989 rs2036978 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.319 0.205 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.1546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.33 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2036978 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs2036978 rs2036978 rs2036978 rs146791531 1 1538 10 1/0 0,255,255 +rs1512612 16 71113780 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71113780 71113780 Chr16(GRCh37):g.71113780C>T 1738+8 1738+8 NM_001270974.2:c.1738+8G>A p.? p.? 13 13 610812 8 5' 82.9985 9.27414 0.964856 2.64501 82.9985 9.27414 0.980491 3.08626 0.0054015 Cryptic Acceptor Strongly Activated 71113761 4.08815 0.022028 70.774 4.57259 0.026238 70.774 rs1512612 yes no Frequency 1 T 0.000000 0 COSM5021895 Bone 0.001757 569 transition G A G>A 0.000 -1.005 235 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.1623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.33 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1512612 0.500 0.500 . . . . . . . . . . . . . . . . . . 0 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.5 rs1512612 rs1512612 rs1512612 rs116927290 1 1538 10 1/0 0,255,255 +rs62040318 16 71122408 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71122408 71122408 Chr16(GRCh37):g.71122408C>T 1466 1466 NM_001270974.2:c.1466G>A p.Gly489Asp p.Gly489Asp 12 610812 20 3' 87.0211 8.17572 0.80581 5.20733 87.0211 8.17572 0.852303 5.53014 0.0192324 rs62040318 yes no Frequency 1 C 0.000000 0 COSM3957787|COSM3957787|COSM3957787 Thyroid|Lung|Bone 0.002677|0.000402|0.001757 747|2487|569 transition G A G>A 1.000 3.999 G Gly GGC 0.342 D Asp GAC 0.539 489 12 10 Zebrafish -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 353.86 0.00 Deleterious 0 III.37 255 PASS . . . . . . . . . . . . . . . . 0.42424244 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.679 . @ . . . . . 1 0.823 . . 66.0 . . . . . . . . . . 0.6123 0.511 0.612 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.110 . . exonic exonic exonic . . 0.722 @ . . . 0.63 0.7 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.332 . . . . D 0.612 0.044 . . 37 . 0.531 . . 0.592 . . . 0.801 0.513 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.908 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.614 . . . . . 0.905 . 0.938 . HET 0 rs62040318 0.380 0.333 . . . . . . . . . . 18.4325 . . V.22 V.22 . 0.060000 . . . . . . 0.593 . . V.22 . . . . . . . . . . . . . . . . . . . 0.185 . 2.467 2.467000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.490 1.000 . 0.663 . 0.379 2.467 0.871 0.38 rs62040318 rs62040318 rs62040318 rs144011854 1 1538 10 1/0 0,255,255 +rs4315334 16 71127850 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71127850 71127850 Chr16(GRCh37):g.71127850A>G 1328-12 1328-12 NM_001270974.2:c.1328-12T>C p.? p.? 11 10 610812 -12 3' 86.9006 7.23076 0.929634 4.47143 83.5859 6.64578 0.890476 3.45045 -0.0537221 rs4315334 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.102 2.627 255 PASS . . . . . . . . . . . . . . . . 0.475 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.6907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.7 0.71 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4315334 0.500 0.500 . . . . . . . . . . . . . . . . . . 0.0408 0.348 . . . . . . IV.95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs4315334 rs4315334 rs4315334 rs4315334 1 1538 10 1/0 0,255,255 +rs929311 16 71163579 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71163579 71163579 Chr16(GRCh37):g.71163579C>T 1191 1191 NM_001270974.2:c.1191G>A p.Lys397= p.Lys397Lys 9 610812 -37 5' 81.348 8.04975 0.942364 2.12762 81.348 8.04975 0.942364 1.77676 0 rs929311 yes no Frequency 1 C 0.000000 0 0.000169 0.000345 0.000181 0.000209 0.000166 0.000138 0.000131 0.000080 0.000651 0.000345 45 8 6 2 3 4 16 2 4 266660 23194 33106 9562 18126 29056 122424 25050 6142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 8 6 2 3 4 16 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4129297|COSM4129297|COSM4129297|COSM4129297|COSM4129297 Thyroid|Lung|Liver|Large intestine|Haematopoietic and lymphoid tissue 0.001339|0.002815|0.002531|0.001793|0.000283 747|2487|2371|2231|3530 transition G A G>A 0.992 2.385 K Lys AAG 0.575 K Lys AAA 0.425 397 255 PASS . . . . . . . . . . . . . . . . 0.64912283 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . 1.1734 . . . . . . . . 9.866e-04 . . . 0.0002 0.0007 8.85e-05 0 0 0.0005 0 0.0026 0.0002 0.0006 9.124e-05 0.0003 0 0.0003 0 0.0026 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.59 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs929311 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I 0 0.0001 0.0002 0.0002 5.982e-05 9.24e-05 8.283e-05 0.0002 0.0001 0.0010 0.0007 0 0 0.0014 0 0.0005 0.0033 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs929311 rs929311 rs929311 rs78804306 1 1538 10 1/0 0,255,255 +rs929312 16 71163606 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71163606 71163606 Chr16(GRCh37):g.71163606C>T 1164 1164 NM_001270974.2:c.1164G>A p.Gln388= p.Gln388Gln 9 610812 -64 5' 81.348 8.04975 0.942364 2.12762 81.348 8.04975 0.942364 1.56774 0 rs929312 yes no Frequency 1 C 0.000000 0 COSM4129303|COSM4129303|COSM4129303 Thyroid|Large intestine|Breast 0.001339|0.003586|0.000408 747|2231|2453 transition G A G>A 0.969 0.367 Q Gln CAG 0.744 Q Gln CAA 0.256 388 255 PASS . . . . . . . . . . . . . . . . 0.3469388 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . 0.9546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.59 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs929312 0.413 0.420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.41 rs929312 rs929312 rs929312 rs79679861 1 1538 10 1/0 0,255,255 +rs2040830 16 71167220 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71167220 71167220 Chr16(GRCh37):g.71167220C>G 1044-3494 1044-3494 NM_001270974.2:c.1044-3494G>C p.? p.? 9 8 610812 -3494 3' 86.9718 9.85646 0.981331 7.78412 86.9718 9.85646 0.981331 7.78412 0 Cryptic Acceptor Strongly Activated 71167214 0.826594 0.005193 71.9346 1.94993 0.066007 75.7184 rs2040830 no no 0 G 0.000000 0 transversion G C G>C 0.016 1.981 255 PASS . . . . . . . . . . . . . . . . 0.40298507 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . 0.2348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.24 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2040830 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . II.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs2040830 rs2040830 rs2040830 rs151250224 1 1538 10 1/0 0,255,255 +. 16 71687002 CTT C - PHLPP2 29149 PH domain and leucine rich repeat protein phosphatase 2 NM_015020.3 -1 8317 3972 NP_055835.2 Q6ZVD8 deletion intron GRCh37 71687003 71687004 Chr16(GRCh37):g.71687003_71687004del 2586-80 2586-79 NM_015020.3:c.2586-80_2586-79del p.? p.? 18 17 611066 -79 3' 92.858 XI.73 0.95971 XII.42 92.858 XI.73 0.95971 XII.42 0 rs778573619 no no 0 0.000000 0 0.004990 0.000484 0.010274 0.000000 0.004992 0.000000 0.005819 0.058065 0.010593 0.058065 93 3 3 0 6 0 58 18 5 18638 6198 292 196 1202 0 9968 310 472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 1 1 0 0 0 34 12 3 0 0 0 0 0 0 0 0 0 RF 47 Genomes AA 255 Pass . . . . . . . . . . . . . . . . 0.5522388 . . . 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000040199 PHLPP2 PHLPP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs778573619 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7285 . . . . . . . . . . . . . . . 0.0005 0.0050 0.0103 0 0.0050 0.0581 0.0058 0.0106 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,26 +rs372741847 16 71782386 G A - AP1G1 555 Adaptor-related protein complex 1, gamma 1 subunit NM_001030007.1 -1 6850 2478 NP_001025178.1 substitution intron GRCh37 71782386 71782386 Chr16(GRCh37):g.71782386G>A 1507-105 1507-105 NM_001030007.1:c.1507-105C>T p.? p.? 17 16 603533 -105 3' 84.8299 XI.05 0.997688 13.5242 84.8299 XI.05 0.997688 13.5242 0 rs372741847 yes no Frequency 1 G 0.000000 0 0.000356 0.000229 0.001193 0.009934 0.000000 0.000000 0.000334 0.000000 0.000000 0.009934 11 2 1 3 0 0 5 0 0 30936 8730 838 302 1616 0 14984 3492 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 1 3 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition C T C>T 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.1351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000166747 AP1G1 AP1G1 . . . . . . 15 0.000230854 64976 15 0.000250058 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372741847 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7285 . . . . . . . . . . . . . . . 0.0002 0.0004 0.0012 0.0099 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372741847 rs372741847 1 1538 10 1/0 0,255,255 +rs375133590 16 72042579 G A - DHODH 2867 Dihydroorotate dehydrogenase (quinone) NM_001361.4 1 2427 1188 NP_001352.2 Q02127 substitution upstream GRCh37 72042579 72042579 Chr16(GRCh37):g.72042579G>A -85 -85 NM_001361.4:c.-85G>A p.? p.? 1 126064 -106 5' 83.1949 8.39958 0.983203 8.90851 83.1949 8.39958 0.983203 8.90851 0 rs375133590 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.006196 0.000916 0.002387 0.006623 0.000000 0.000000 0.009323 0.009159 0.008147 0.009323 192 8 2 2 0 0 140 32 8 30986 8732 838 302 1622 0 15016 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 192 8 2 2 0 0 140 32 8 0 0 0 0 0 0 0 0 0 PASS 45 Genomes 3164 1380 4544 18 4 22 0.00565682 0.00289017 0.00481822 0.00565682 0.00289017 0.00481822 28 transition G A G>A 0.039 2.304 255 PASS . . . . . . 0.0012 0.0014 . 0.005 . . . . . . 0.5441176 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . UPSTREAM(MODIFIER||||DHODH|mRNA|CODING|NM_001361|) 0.0029 0.0048 0.0057 0.0029 0.0048 0.0057 . 0.7389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.0012 . . . 0.39 0.45 182 ENSG00000102967 DHODH DHODH ENST00000572887:c.-85G>A . . . . . 293 0.00450936 64976 287 0.00478445 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375133590 . 0.065 . . . . . . . . . . . . . . . . . . . . . 0.004818 . . . . III.71 . . . . . . . . . 0.0009 0.0062 0.0024 0.0066 0 0.0092 0.0093 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0057 . . rs375133590 rs375133590 1 1538 10 1/0 0,255,255 +. 16 72097070 A G - HPR 5156 Haptoglobin-related protein NM_020995.3 1 1242 1047 NP_066275.3 P00739 substitution upstream GRCh37 72097070 72097070 Chr16(GRCh37):g.72097070A>G -85 -85 NM_020995.3:c.-85A>G p.? p.? 1 140210 -90 5' 82.5023 7.07454 0.940163 4.80119 82.5023 7.07454 0.940163 4.80119 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30930 8716 836 302 1602 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition A G A>G 0.425 -0.037 189 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . . . . . . . . . 0.0711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . . HPR HPR . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs147899609 16 72110637 C A - HPR 5156 Haptoglobin-related protein NM_020995.3 1 1242 1047 NP_066275.3 P00739 substitution missense exon GRCh37 72110637 72110637 Chr16(GRCh37):g.72110637C>A 704 704 NM_020995.3:c.704C>A p.Thr235Asn p.Thr235Asn 5 140210 436 3' 80.3069 8.44715 0.721507 VII.45 80.3069 8.44715 0.721507 VII.45 0 Peptidase S1/S6, chymotrypsin/Hap Haptoglobin rs147899609 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.006320 0.001790 0.002499 0.004732 0.000000 0.000130 0.009922 0.010816 0.005418 0.010816 1751 43 86 48 0 4 1256 279 35 277070 24016 34418 10144 18868 30780 126590 25794 6460 0.000108 0.000000 0.000058 0.000000 0.000000 0.000065 0.000142 0.000310 0.000000 15 0 1 0 0 1 9 4 0 1721 43 84 48 0 2 1238 271 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8305 4164 12469 77 8 85 0.00918635 0.00191755 0.00677075 0.00918635 0.00191755 0.00677075 144 transversion C A C>A 0.102 3.918 T Thr ACT 0.243 N Asn AAT 0.464 235 11 10 Opossum 0 0 0 0.71 I.33 8.VI 11.VI 61 56 65 C15 58.02 64.58 Deleterious 0.02 III.46 bad 3.995E-4 0.01177 255 PASS . 0.0027 . . 0.01 . 0.0014 . . 0.007 . . HPR:uc002fby.3:exon5:c.C704A:p.T235N HPR:NM_020995:exon5:c.C704A:p.T235N . . 0.5 . . @ 86 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.475 . @ . . . . . 1 0.352 . . 172.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|T235N|HPR|mRNA|CODING|NM_020995|NM_020995.ex.5) 0.0019 0.0068 0.0092 0.0019 0.0068 0.0092 . -0.0938 -0.357 -0.094 c . . . . . 5.782e-03 . . . 0.0019 0.0048 0.0020 0 0.0079 0.0084 0.0085 0 0.0019 0.0053 0.0019 0 0.0092 0.0083 0.0101 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.886 . . exonic exonic exonic . . 0.292 0.0014 . . . 0.43 0.28 182 ENSG00000261701 HPR HPR . . . 1.000 0.480 . 470 0.00723344 64976 463 0.00771847 59986 Uncertain_significance . 0 . 0.629 . . . . D 0.681 0.060 . . 37 . 0.893 . . 0.821 . . . 0.557 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.456 . . 0 0 0 0 0 0 . 0.715 . . 0.732 . . . . . . 0 0.614 . . . . . 0.518 . 0.249 . HET 0.01 rs147899609 . 0.065 . . . . . 0.0027472527472527475 0.0 0.0 0.0 0.0079155672823219 XI.01 0.001716 . 2.V 2.V . 0.010000 P00739 . . . 0.006771 . 0.248 . . 2.V 0.0022 0.0061 0.0024 0.0046 0 0.0107 0.0096 0.0047 0.0001 0.0011 0.0080 0.0048 0.0099 0 0.0114 0.0122 0.0092 . . 0.283 . 1.386 1.386000 . . 0.010000 . . 1.0E-255 0.079 0.221 . 0.172 0.274 . 0.550 . 0.290 1.386 0.871 0.01 . . rs147899609 rs147899609 1 1538 10 1/0 0,232,241 +. (chr16:74366430 A/G) 16 74366430 A G Not on a known gene +. (chr16:74366435 A/G) 16 74366435 A G Not on a known gene +. (chr16:74366440 A/G) 16 74366440 A G Not on a known gene +. 16 74425490 A C - NPIPB15 34409 Nuclear pore complex interacting protein family, member B15 NM_001306094.1 1 1389 1332 NP_001293023.1 A6NHN6 substitution missense exon GRCh37 74425490 74425490 Chr16(GRCh37):g.74425490A>C 844 844 NM_001306094.1:c.844A>C p.Ile282Leu p.Ile282Leu 7 202 3' 90.4337 XI.63 0.960909 7.70782 90.4337 XI.63 0.960909 7.70782 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245880 15288 33570 9850 17238 30778 111386 22294 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 359 Exomes transversion A C A>C 0.000 -14.080 I Ile ATC 0.481 L Leu CTC 0.197 282 5 2 Chimp 2 2 2 0 0 5.II 4.IX 111 111 5 C0 245.67 0.00 Tolerated 0.8 IV.32 182 PASS . . . . . . . . . . . ENSG00000196436:ENST00000429990:exon7:c.A844C:p.I282L NPIPL2:uc010vmt.1:exon6:c.A661C:p.I221L NPIPB15:NM_001306094:exon7:c.A844C:p.I282L . . 0.11636364 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.027 . . 275.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|I282L|NPIPB15|mRNA|CODING|NM_001306094|NM_001306094.ex.7) . . . . . . . -1.0288 -0.917 -1.029 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196436 NPIPL2 NPIPB15 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.353 0.015 . . 37 . 0.081 . . 0.376 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.090 . . 0.133 . . . . . . 0 0.010 . . . . . . . 0.345 . LowAF 0.94 . . . . . . . . . . . . . . . . . . . 1.000000 A6NHN6 . . . . . 0.009 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.428 . . . . . 1.000000 . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs773880033 16 74425492 C G - NPIPB15 34409 Nuclear pore complex interacting protein family, member B15 NM_001306094.1 1 1389 1332 NP_001293023.1 A6NHN6 substitution missense exon GRCh37 74425492 74425492 Chr16(GRCh37):g.74425492C>G 846 846 NM_001306094.1:c.846C>G p.Ile282Met p.Ile282Met 7 204 3' 90.4337 XI.63 0.960909 7.70782 90.4337 XI.63 0.960909 7.70782 0 rs773880033 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 245894 15298 33572 9850 17240 30778 111384 22296 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 359 Exomes transversion C G C>G 0.000 -14.080 I Ile ATC 0.481 M Met ATG 1.000 282 5 2 Chimp 2 1 2 0 0 5.II 5.VII 111 105 10 C0 245.67 8.IX Tolerated 0.12 IV.32 178 PASS . . . . . . . . . . . ENSG00000196436:ENST00000429990:exon7:c.C846G:p.I282M NPIPL2:uc010vmt.1:exon6:c.C663G:p.I221M NPIPB15:NM_001306094:exon7:c.C846G:p.I282M . . 0.108474575 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.304 . @ . . . . . 1 0.388 . . 295.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atC/atG|I282M|NPIPB15|mRNA|CODING|NM_001306094|NM_001306094.ex.7) . . . . . . . -0.2557 -0.353 -0.256 c . . . . . 7.900e-06 . . . 0 1.11e-05 0 0 0 0 0 6.062e-05 0 9.471e-06 0 0 0 0 0 6.097e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196436 NPIPL2 NPIPB15 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.220 0.008 . . 37 . 0.329 . . 0.173 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.435 . . 0.482 . . . . . . 0 0.506 . . . . . . . 0.369 . LowAF 0.13 rs773880033 . . . . . . . . . . . . . . . . . . 0.050000 A6NHN6 . . . . . 0.008 . . . 0 4.067e-06 0 0 0 0 0 0 3.249e-05 . . . . . . . . . . 0.558 . . . . . 0.050000 . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +rs771881108 16 74425498 G C - NPIPB15 34409 Nuclear pore complex interacting protein family, member B15 NM_001306094.1 1 1389 1332 NP_001293023.1 A6NHN6 substitution missense exon GRCh37 74425498 74425498 Chr16(GRCh37):g.74425498G>C 852 852 NM_001306094.1:c.852G>C p.Glu284Asp p.Glu284Asp 7 210 3' 90.4337 XI.63 0.960909 7.70782 90.4337 XI.63 0.960909 7.70782 0 transversion G C G>C 0.000 -14.080 E Glu GAG 0.583 D Asp GAC 0.539 284 5 2 Western lowland gorilla 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 174.65 0.00 Tolerated 0.56 III.86 175 PASS . . . . . . . . . . . ENSG00000196436:ENST00000429990:exon7:c.G852C:p.E284D NPIPL2:uc010vmt.1:exon6:c.G669C:p.E223D NPIPB15:NM_001306094:exon7:c.G852C:p.E284D . . 0.10273973 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.597 . . 292.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E284D|NPIPB15|mRNA|CODING|NM_001306094|NM_001306094.ex.7) . . . . . . . -0.1177 -0.270 -0.118 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196436 NPIPL2 NPIPB15 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.166 0.006 . . 37 . 0.407 . . 0.235 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.429 . . 0 0 0 0 0 0 . 0.425 . . 0.448 . . . . . . 0 0.473 . . . . . . . 0.260 . LowAF 0.04 . . . . . . . . . . . . . . . . . . . 0.110000 A6NHN6 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . 0.110000 . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +rs200596363 16 74446735 T C - CLEC18B 33849 C-type lectin domain family 18, member B NM_001011880.2 -1 1943 1368 NP_001011880.2 Q6UXF7 substitution synonymous exon GRCh37 74446735 74446735 Chr16(GRCh37):g.74446735T>C 720 720 NM_001011880.2:c.720A>G p.Gly240= p.Gly240Gly 6 616572 44 3' 78.9886 8.46368 0.555923 10.0929 78.9886 8.46368 0.555923 9.77298 0 Cryptic Acceptor Strongly Activated 74446720 1.90075 9.4e-05 70.5452 3.03884 0.000124 70.5452 Epidermal growth factor-like, type 3 Epidermal growth factor-like rs200596363 yes no Frequency 1 0.000000 0 0.007894 0.001646 0.003298 0.013161 0.000053 0.007025 0.010890 0.010058 0.008179 0.013161 2152 39 113 131 1 215 1349 252 52 272606 23700 34264 9954 18796 30606 123874 25054 6358 0.000103 0.000000 0.000058 0.000402 0.000000 0.000196 0.000113 0.000080 0.000000 14 0 1 2 0 3 7 1 0 2124 39 111 127 1 209 1335 250 52 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8503 4389 12892 49 5 54 0.00572965 0.00113792 0.00417117 0.00572965 0.00113792 0.00417117 40 transition A G A>G 0.976 -0.279 G Gly GGA 0.246 G Gly GGG 0.250 240 213 PASS . . . . . . . . . . . ENSG00000140839:ENST00000339953:exon6:c.A720G:p.G240G . CLEC18B:NM_001011880:exon6:c.A720G:p.G240G . . 0.1918736 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 443.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggG|G240|CLEC18B|mRNA|CODING|NM_001011880|NM_001011880.ex.6) 0.0011 0.0042 0.0057 0.0011 0.0042 0.0057 . 0.1480 . . . . . . . . 9.547e-03 . . . 0.0017 0.0087 0.0029 0.0004 0.0159 0.0126 0.0048 0.0090 0.0018 0.0100 0.0028 0 0.0150 0.0141 0.0064 0.0089 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.32 182 ENSG00000140839 CLEC18B CLEC18B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200596363 . . . . . . . . . . . . . . . . . . . . . . . 0.004171 . . . . . 0.0016 0.0081 0.0034 0.0127 5.823e-05 0.0100 0.0111 0.0089 0.0070 0.0017 0.0066 0 0.0280 0 0.0104 0.0094 0.0041 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.0057 . . rs200596363 rs200596363 1 1538 10 1/0 0,170,246 +rs369010440 16 75575269 C T - TMEM231 37234 Transmembrane protein 231 NM_001077416.2 -1 3002 1110 NP_001070884.2 substitution missense exon GRCh37 75575269 75575269 Chr16(GRCh37):g.75575269C>T 908 908 NM_001077416.2:c.908G>A p.Arg303Gln p.Arg303Gln 5 614949 -22 5' 0 0 0 0 0 0 0 0 0 Transmembrane protein 231 rs369010440 yes no Frequency 1 C 0.000000 0 0.000091 0.000084 0.000000 0.000000 0.000053 0.000000 0.000167 0.000039 0.000000 0.000167 25 2 0 0 1 0 21 1 0 274936 23860 33624 10128 18692 30388 126096 25764 6384 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 23 2 0 0 1 0 19 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8339 3914 12253 1 0 1 0.000119904 0 8.1606e-05 0.000119904 0 8.1606e-05 68 transition G A G>A 0.992 2.627 R Arg CGA 0.110 Q Gln CAA 0.256 303 12 10 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 111.26 16.48 Tolerated 0.16 III.36 255 PASS . . . . . . . . . . . . . . . . 0.4473684 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.781 . @ . . . . . 1 0.998 . . 38.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.4321 0.410 0.432 c . . . . . 1.120e-04 . . . 0 9.004e-05 0 0.0002 0 0.0002 0 0 0 7.66e-05 0 0.0001 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.631 . . exonic exonic exonic . . 0.526 @ . . . 0.29 0.5 182 ENSG00000205084 TMEM231 TMEM231 . . . 0.741 0.232 . 7 0.000107732 64976 7 0.000116694 59986 Uncertain_significance . 0 . 0.368 . . . . T 0.463 0.023 . . 37 . 0.700 . . 0.692 . . . 0.745 0.520 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.433 . . 0 0 0 0 0 0 . 0.715 . . 0.628 . . . . . . 0 0.416 . . . . . 0.450 . 0.462 . HET 0.1 rs369010440 . . . . . . . . . . . . X.51 0.0 . IV.42 IV.42 . 0.180000 . . . . 0.000082 . 0.472 . . IV.42 0 7.786e-05 0 0 5.858e-05 4.49e-05 0.0002 0 0 0.0002 0.0002 0 0 0 0 0.0003 0 . . 0.495 . 2.166 2.166000 . . 0.180000 . . 1.0E-255 0.569 0.273 . 0.222 0.812 . 0.318 . 0.052 2.166 0.871 0.0001 . . rs369010440 rs369010440 1 1538 10 1/0 0,255,255 +rs200952997 16 77468558 G C - ADAMTS18 17110 ADAM metallopeptidase with thrombospondin type 1 motif 18 NM_199355.3 -1 5913 3666 NP_955387.1 Q8TE60 substitution missense exon GRCh37 77468558 77468558 Chr16(GRCh37):g.77468558G>C 35 35 NM_199355.3:c.35C>G p.Pro12Arg p.Pro12Arg 1 607512 -56 5' 90.0253 0 0 0 90.0253 0 0 0 0 rs200952997 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.001797 0.000000 0.004100 0.000000 0.005000 0.000000 0.007130 0.001853 0.001596 0.012900 0.000167 0.001937 0.010260 0.017241 0.007593 0.017241 835 18 27 91 1 34 493 145 26 117114 9712 16916 7054 5994 17552 48052 8410 3424 0.000137 0.000000 0.000000 0.000284 0.000000 0.000000 0.000208 0.000238 0.000584 8 0 0 1 0 0 5 1 1 819 18 27 89 1 34 483 143 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000440708.1 germline clinical testing Likely benign 1 not provided transversion C G C>G 0.016 1.013 P Pro CCG 0.115 R Arg CGG 0.207 12 12 7 Fruitfly -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Tolerated 0.37 III.45 255 PASS . . . . . . 0.0018 . . 0.005 0.0041 . ADAMTS18:uc002ffc.4:exon1:c.C35G:p.P12R ADAMTS18:NM_199355:exon1:c.C35G:p.P12R . . 0.35135135 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.058 . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P12R|ADAMTS18|mRNA|CODING|NM_199355|NM_199355.ex.1) . . . . . . . -1.0440 -0.975 -1.044 c . . . . . 2.154e-03 . . . 0 0.0038 0 0 . 0.0116 0 0.0012 0 0.0037 0 0 . 0.0118 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.583 . . exonic exonic exonic . . 0.342 0.0018 . . . 0.41 0.49 182 ENSG00000140873 ADAMTS18 ADAMTS18 . . . 1.000 0.747 . 308 0.00474021 64976 300 0.00500117 59986 Uncertain_significance . 0 . 0.079 . . . . . . . . . 37 . 0.319 . . 0.117 . . . 0.112 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.057 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.413 . 0.208 . HET 0.84 rs200952997 . . . . . . . . . . . . 10.0617 0.0 . 4.III 3.VI . 0.920000 Q8TE60 . . Name\x3dnsv906957 . . 0.178 . . 3.VI 0 0.0063 0.0016 0.0129 0.0002 0.0184 0.0089 0.0053 0.0019 0.0021 0.0093 0.0013 0.0132 0 0.0156 0.0132 0.0133 . . 0.088 . 0.665 0.665000 . . 0.920000 . . 1.0E-255 0.057 0.215 . 0.327 0.198 . 0.339 . 0.140 0.665 -0.588 . . . rs200952997 rs200952997 1 1538 10 1/0 0,255,255 +. 16 77822856 T G - VAT1L 29315 Vesicle amine transport 1-like NM_020927.2 1 3791 1260 NP_065978.1 Q9HCJ6 substitution intron GRCh37 77822856 77822856 Chr16(GRCh37):g.77822856T>G 233+44 233+44 NM_020927.2:c.233+44T>G p.? p.? 1 1 44 5' 53.6508 0 0.000938 0 53.6508 0 0.000938 0 0 transversion T G T>G 0.488 0.770 201 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||VAT1L|mRNA|CODING|NM_020927|) . . . . . . . I.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000171724 VAT1L VAT1L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv457543 . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs755606193 16 84056413 A G - SLC38A8 32434 Solute carrier family 38, member 8 NM_001080442.2 -1 1425 1308 NP_001073911.1 A6NNN8 substitution synonymous exon GRCh37 84056413 84056413 Chr16(GRCh37):g.84056413A>G 772 772 NM_001080442.2:c.772T>C p.Leu258= p.Leu258Leu 6 615585 -34 5' 86.0205 10.169 0.996261 8.03247 86.0205 10.169 0.996261 8.50733 0 Amino acid transporter, transmembrane rs755606193 yes no Frequency 1 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245906 15264 33562 9838 17230 30776 111474 22278 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition T C T>C 0.992 -0.037 L Leu TTG 0.127 L Leu CTG 0.404 258 255 PASS . . . . . . . . . . . . SLC38A8:uc002fhg.1:exon6:c.T772C:p.L258L SLC38A8:NM_001080442:exon6:c.T772C:p.L258L . . 0.5 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L258|SLC38A8|mRNA|CODING|NM_001080442|NM_001080442.ex.6) . . . . . . . 0.8414 . . . . . . . . 7.893e-06 . . . 0 1.119e-05 0 0 0 2.417e-05 0 0 0 9.506e-06 0 0 0 1.856e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000166558 SLC38A8 SLC38A8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755606193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.067e-06 0 0 0 0 8.971e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 84063320 A ATGGAAG - SLC38A8 32434 Solute carrier family 38, member 8 NM_001080442.2 -1 1425 1308 NP_001073911.1 A6NNN8 insertion intron GRCh37 84063320 84063321 Chr16(GRCh37):g.84063320_84063321insTGGAAG 633-165 633-164 NM_001080442.2:c.633-165_633-164insCTTCCA p.? p.? 5 4 615585 -164 3' 90.0147 X.86 0.966985 9.90263 90.0147 X.86 0.966985 9.90263 0 CTTCCA 255 Pass . . . . . . . . . . . . . . . . 0.42857143 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56 . . INTRON(MODIFIER||||SLC38A8|mRNA|CODING|NM_001080442|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000166558 SLC38A8 SLC38A8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,37 +rs139599059 16 84438519 C G - ATP2C2 29103 ATPase, Ca++ transporting, type 2C, member 2 NM_001286527.2 1 3476 2928 NP_001273456.2 substitution intron GRCh37 84438519 84438519 Chr16(GRCh37):g.84438519C>G 211-215 211-215 NM_001286527.2:c.211-215C>G p.? p.? 3 2 613082 -215 3' 89.093 12.302 0.980022 X.72 89.093 12.302 0.980022 X.72 0 rs139599059 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.006000 0.001400 0.002706 0.000396 0.001380 0.005253 0.000000 0.004058 0.001783 0.013889 0.004530 0.013889 439 6 34 44 0 92 118 124 21 162206 15160 24644 8376 11600 22674 66188 8928 4636 0.000049 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000448 0.000431 4 0 0 0 0 1 0 2 1 431 6 34 44 0 90 118 120 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.279 255 PASS . 0.0023 0.0028 . 0.01 . 0.0018 0.0014 . 0.006 0.002 . ATP2C2:uc002fhy.3:exon1:c.C47G:p.S16C . . . 0.34210527 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . -0.1420 . . . . . . . . 2.081e-03 . . . 0 0.0041 0 0 0.05 0.0034 0.0197 0.0046 0 0.0042 0 0 0.05 0.0027 0.0254 0.0047 . nonsynonymous_SNV . . . . intronic exonic intronic . . . 0.0018 . . . 0.43 0.37 182 ENSG00000064270 ATP2C2 ATP2C2 . . . . . . 172 0.00264713 64976 163 0.0027173 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs139599059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0027 0.0013 0.0054 0 0.0140 0.0017 0.0041 0.0041 0.0003 0.0029 0.0024 0 0 0.0137 0.0021 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs139599059 rs139599059 1 1538 10 1/0 0,255,255 +. 16 88066625 G A - BANP 13450 BTG3 associated nuclear protein NM_001173543.1 1 2438 1560 NP_001167014.1 Q8N9N5 substitution intron GRCh37 88066625 88066625 Chr16(GRCh37):g.88066625G>A 1040-90 1040-90 NM_001173543.1:c.1040-90G>A p.? p.? 9 8 611564 -90 3' 82.877 9.95093 0.792321 XII.28 82.877 9.95093 0.792321 XII.28 0 rs957658613 yes no Frequency 1 G 0.000000 0 0.000258 0.000229 0.000000 0.000000 0.000000 0.000000 0.000400 0.000000 0.000000 0.000400 8 2 0 0 0 0 6 0 0 30954 8722 838 302 1622 0 14994 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 2 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.35416666 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172530 BANP BANP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs76389306 16 88500957 C T - ZNF469 23216 Zinc finger protein 469 NM_001127464.2 1 13203 11778 NP_001120936.2 Q96JG9 substitution missense exon GRCh37 88500957 88500957 Chr16(GRCh37):g.88500957C>T 6995 6995 NM_001127464.2:c.6995C>T p.Pro2332Leu p.Pro2332Leu 2 612078 3816 3' 0 0 0.000199 0 0 0 0.000199 0 0 rs76389306 yes no Frequency/1000G 2 C uncertain_significance,likely_benign 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.001932 0.000633 0.002706 0.001538 0.000000 0.000789 0.002996 0.000594 0.002731 0.002996 342 10 67 13 0 18 210 11 13 176994 15794 24762 8450 11800 22814 70096 18518 4760 0.000011 0.000000 0.000081 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 340 10 65 13 0 18 210 11 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000428390.1|RCV000384522.1 germline|germline clinical testing|clinical testing Likely benign|VUS 1|1 not specified|Corneal fragility keratoglobus, blue sclerae AND joint hypermobility transition C T C>T 0.000 0.125 P Pro CCG 0.115 L Leu CTG 0.404 2332 12 8 Chicken -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0.03 III.26 255 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0029 . 0.005 . . ZNF469:uc002fku.2:exon2:c.C6995T:p.P2332L ZNF469:NM_001127464:exon2:c.C6995T:p.P2332L . . 0.47115386 . . germline 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 1 0 0 . . . . . . 0.054 . Uncertain//\@significance Uncertain_significance RCV000384522.1 . MedGen:OMIM:SNOMED_CT C0268344:229200:31798004 1 0.014 . . 104.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P2332L|ZNF469|mRNA|CODING|NM_001127464|NM_001127464.ex.2) . . . . . . . -1.1934 -1.208 -1.193 c . . . . . 9.302e-04 . . . 0 0.0017 0.0029 0 0 0.0033 0 0.0009 0 0.0014 0.0037 0 0 0.0029 0 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.164 0.0014 . . . 0.17 0.37 182 ENSG00000225614 ZNF469 ZNF469 . . . 0.099 0.163 . 121 0.00186223 64976 115 0.00191711 59986 Likely_benign . 0 . . . . . . D 0.977 0.710 . . 37 . 0.189 . . 0.191 . . . 0.145 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.205 . . 0.133 . . . . . . 0 0.912 . . . . . 0.070 . 0.134 . HET 0 rs76389306 . . . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 III.03 0.001445 ENST00000437464 3.IX 0.555 . 0.010000 Q96JG9 . . . . . 0.151 . . . 0.0008 0.0019 0.0026 0.0016 0 0.0005 0.0029 0.0032 0.0008 0.0005 0.0021 0.0048 0 0 0.0011 0.0034 0.0010 . . 0.450 . 0.764 0.764000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.062 0.010 . 0.137 . 0.129 0.764 0.598 0.01 . . rs76389306 rs76389306 1 1538 10 1/0 0,255,255 +. 16 88599699 CCTCTGG C - ZFPM1 19762 Zinc finger protein, multitype 1 NM_153813.2 1 3241 3021 NP_722520.2 Q8IX07 deletion in-frame exon GRCh37 88599701 88599706 Chr16(GRCh37):g.88599701_88599706del 1335 1340 NM_153813.2:c.1335_1340del p.Leu446_Ala447del p.Leu446_Ala447del 10 601950 146 3' 84.5852 XI.58 0.577154 9.18451 84.5852 XI.58 0.577154 9.18451 0 rs149145771 yes no Frequency/1000G 2 0.000000 0 0.001202 0.000000 0.000000 0.000000 0.000000 0.005051 0.000000 0.000000 0.000000 0.005051 1 0 0 0 0 1 0 0 0 832 488 86 2 36 198 14 0 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 1564 Exomes TCTGGC 255 Pass 0.9 0.97 0.97 0.98 1. . . . . . . ENSG00000179588:ENST00000319555:exon10:c.1334_1339del:p.445_447del ZFPM1:uc002fkv.3:exon10:c.1334_1339del:p.445_447del ZFPM1:NM_153813:exon10:c.1334_1339del:p.445_447del . . 0.96428573 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 28 . . CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cctctggcc/ccc|PLA445P|ZFPM1|mRNA|CODING|NM_153813|NM_153813.ex.10) 0.87 0.95 1. . . . . . . . . . . . . . 1.368e-03 . . . 0 0 0 . . 0 . 0 0 0 0 0 . 0 . 0 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000179588 ZFPM1 ZFPM1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs149145771 . . . . . . . . . . . . . . . . . . . . . . . 0.951118 . . . . . 0 0.0012 0 0 0 . 0 0 0.0051 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs149145771 rs149145771 1 1538 255 1.I 0,0,255 +rs13306294 16 88712731 C T - CYBA 2577 Cytochrome b-245, alpha polypeptide NM_000101.3 -1 723 588 NP_000092.2 P13498 substitution intron GRCh37 88712731 88712731 Chr16(GRCh37):g.88712731C>T 288-126 288-126 NM_000101.3:c.288-126G>A p.? p.? 5 4 608508 -126 3' 81.476 8.17081 0.94209 XI.88 81.476 8.17081 0.94209 XI.88 0 rs13306294 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.000245 0.000278 0.000000 0.000000 0.000719 0.000000 0.000237 0.000000 0.000000 0.000719 5 2 0 0 1 0 2 0 0 20408 7184 532 178 1390 0 8428 2088 608 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transition G A G>A 0.000 -1.167 248 PASS 0.09 0.2 0.23 0.18 0.28 . . . . . . . . . . . 0.30107528 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||CYBA|mRNA|CODING|NM_000101|) . . . . . . . 0.2612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . @ . . . 0.38 0.27 182 ENSG00000051523 CYBA CYBA . uc010chx.2:c.*428G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs13306294 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0 0 0.0007 0 0.0002 0 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.28 rs13306294 rs13306294 rs13306294 rs13306294 1 1538 10 1/0 0,248,255 +rs12926425 16 88712733 C T - CYBA 2577 Cytochrome b-245, alpha polypeptide NM_000101.3 -1 723 588 NP_000092.2 P13498 substitution intron GRCh37 88712733 88712733 Chr16(GRCh37):g.88712733C>T 288-128 288-128 NM_000101.3:c.288-128G>A p.? p.? 5 4 608508 -128 3' 81.476 8.17081 0.94209 XI.88 81.476 8.17081 0.94209 XI.88 0 rs12926425 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.000 0.448 229 PASS . . . . . . . . . . . . . . . . 0.23958333 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . INTRON(MODIFIER||||CYBA|mRNA|CODING|NM_000101|) . . . . . . . 0.5035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . @ . . . 0.32 0.26 182 ENSG00000051523 CYBA CYBA . uc010chx.2:c.*426G>A . . . . 17458 0.268684 64976 16509 0.275214 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12926425 0.217 0.210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . 0.22 rs12926425 rs12926425 rs12926425 rs12926425 1 1538 10 1/0 0,241,255 +rs568280615 16 88798310 G T - PIEZO1 28993 Piezo type mechanosensitive ion channel component 1 NM_001142864.3 -1 8089 7566 NP_001136336.2 Q92508 substitution missense exon GRCh37 88798310 88798310 Chr16(GRCh37):g.88798310G>T 3000 3000 NM_001142864.3:c.3000C>A p.Phe1000Leu p.Phe1000Leu 22 611184 9 3' 80.6605 XI.86 0.988144 17.5884 80.6605 XI.86 0.98388 17.221 -0.00143839 rs568280615 yes no Frequency/1000G 2 G 0.000200 A 1 0.000278 0.000154 0.000000 0.000000 0.000000 0.000132 0.000613 0.000057 0.000000 0.000613 47 2 0 0 0 3 41 1 0 169214 13000 24632 8434 11280 22780 66916 17594 4578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 2 0 0 0 3 41 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 1.000 3.353 F Phe TTC 0.546 L Leu TTA 0.073 1000 12 9 Zebrafish 1 0 0 0 0 5.II 4.IX 132 111 22 C0 245.76 IV.86 Tolerated 0.37 II.97 255 PASS . . . . . . . . . . . ENSG00000103335:ENST00000301015:exon22:c.C3000A:p.F1000L . PIEZO1:NM_001142864:exon22:c.C3000A:p.F1000L . . 0.7083333 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.602 . @ . . . . . 1 0.826 . . 48.0 . . . . . . . . . . 0.0797 0.127 0.080 c . . . . . 1.485e-04 . . . 0 0.0003 0 0 0 0.0006 0 0.0001 0 0.0001 0 0 0 0.0003 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.717 . . exonic exonic exonic . . 0.492 0.0002 . . . . . . ENSG00000103335 PIEZO1 PIEZO1 . . . 1.000 0.747 . 149 0.00229315 64976 149 0.00248391 59986 Uncertain_significance . 0 . 0.537 . . . . D 0.951 0.500 . . 37 . 0.599 . . 0.578 . . . 0.410 0.451 . . . . 0 1 0 0 0 0 0 1 0 0 0 0.632 . . 0 0 0 0 0 0 . 0.715 . . 0.774 . . . . . . 1 0.087 . . . . . 0.836 . 0.621 . HET 1 rs568280615 . . . . . . . . . . . . 16.4295 . ENST00000451779 IV.23 IV.23 . 0.430000 Q92508 . . . . . 0.462 . . IV.23 0.0003 0.0003 0 0 0 6.658e-05 0.0007 0 0.0001 0 0.0002 0 0 0 0 0.0004 0 . . 0.522 . 2.227 2.227000 . . 0.430000 . . 1.0E-255 1.000 0.715 . 0.625 1.000 . 0.257 . 0.193 2.227 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 16 88803151 C G - PIEZO1 28993 Piezo type mechanosensitive ion channel component 1 NM_001142864.3 -1 8089 7566 NP_001136336.2 Q92508 substitution splice site GRCh37 88803151 88803151 Chr16(GRCh37):g.88803151C>G 1196-4 1196-4 NM_001142864.3:c.1196-4G>C p.? p.? 11 10 611184 -4 3' 76.3328 10.0839 0.458952 9.40118 76.3328 9.74713 0.454416 8.58856 -0.0144261 rs946453254 no no 0 C 0.000000 0 0.000097 0.000000 0.000000 0.000000 0.000000 0.000047 0.000188 0.000241 0.000000 0.000241 15 0 0 0 0 1 12 2 0 154450 15488 22390 7698 10916 21424 63870 8302 4362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 0 0 1 12 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.4893617 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.0884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000224888 AK294743 LOC100289580 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 9.716e-05 0 0 0 0.0004 0.0002 0 4.668e-05 0 9.697e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs35146933 16 89262419 G A - CDH15 1754 Cadherin 15, type 1, M-cadherin (myotubule) NM_004933.2 1 2859 2445 NP_004924.1 P55291 substitution downstream GRCh37 89262419 89262419 Chr16(GRCh37):g.89262419G>A *856 *856 NM_004933.2:c.*856G>A p.? p.? 14 114019 1150 3' 77.911 8.78564 0.961716 6.39067 77.911 8.78564 0.961716 6.39067 0 rs35146933 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.000000 0.000000 0.010900 0.001400 0.004149 0.000883 0.001742 0.000000 0.000000 0.000000 0.007971 0.008524 0.004587 0.008524 595 13 40 0 0 0 461 62 19 143410 14730 22962 6464 11372 18634 57832 7274 4142 0.000042 0.000000 0.000087 0.000000 0.000000 0.000000 0.000035 0.000275 0.000000 3 0 1 0 0 0 1 1 0 589 13 38 0 0 0 459 60 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.551 1.335 255 PASS . 0.0027 . . 0.01 0.0008 0.0026 0.0014 . 0.011 . ENSG00000259803:ENST00000562855:exon10:c.C1659T:p.P553P SLC22A31:uc021tmr.1:exon8:c.C1005T:p.P335P SLC22A31:NM_001242757:exon8:c.C1005T:p.P335P . . 0.5416667 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.5873 . . . . . . . . 1.102e-03 . . . 0 0.0015 0 0 0 0.0038 0 0 0 0.0005 0 0 0 0.0023 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.35 0.36 182 ENSG00000259803 SLC22A31 SLC22A31 . . . . . . 380 0.00584831 64976 368 0.00613476 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35146933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0035 0.0017 0 0 0.0071 0.0072 0.0032 0 0.0006 0.0065 0.0024 0 0 0.0100 0.0101 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs35146933 rs35146933 rs35146933 rs35146933 1 1538 10 1/0 0,255,255 +rs35146933 16 89262419 G A - SLC22A31 27091 Solute carrier family 22, member 31 NM_001242757.1 -1 1860 1017 NP_001229686.1 substitution synonymous exon GRCh37 89262419 89262419 Chr16(GRCh37):g.89262419G>A 1005 1005 NM_001242757.1:c.1005C>T p.Pro335= p.Pro335Pro 8 295 3' 84.795 7.34308 0.842134 9.78707 84.795 7.34308 0.842134 9.78707 0 rs35146933 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.000000 0.000000 0.010900 0.001400 0.004149 0.000883 0.001742 0.000000 0.000000 0.000000 0.007971 0.008524 0.004587 0.008524 595 13 40 0 0 0 461 62 19 143410 14730 22962 6464 11372 18634 57832 7274 4142 0.000042 0.000000 0.000087 0.000000 0.000000 0.000000 0.000035 0.000275 0.000000 3 0 1 0 0 0 1 1 0 589 13 38 0 0 0 459 60 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.551 1.335 P Pro CCC 0.328 P Pro CCT 0.283 335 255 PASS . 0.0027 . . 0.01 0.0008 0.0026 0.0014 . 0.011 . ENSG00000259803:ENST00000562855:exon10:c.C1659T:p.P553P SLC22A31:uc021tmr.1:exon8:c.C1005T:p.P335P SLC22A31:NM_001242757:exon8:c.C1005T:p.P335P . . 0.5416667 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.5873 . . . . . . . . 1.102e-03 . . . 0 0.0015 0 0 0 0.0038 0 0 0 0.0005 0 0 0 0.0023 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.35 0.36 182 ENSG00000259803 SLC22A31 SLC22A31 . . . . . . 380 0.00584831 64976 368 0.00613476 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35146933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0035 0.0017 0 0 0.0071 0.0072 0.0032 0 0.0006 0.0065 0.0024 0 0 0.0100 0.0101 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs35146933 rs35146933 rs35146933 rs35146933 1 1538 10 1/0 0,255,255 +rs75637955 16 89287614 A T - ZNF778 26479 Zinc finger protein 778 NM_001201407.1 1 3608 2274 NP_001188336.1 substitution intron GRCh37 89287614 89287614 Chr16(GRCh37):g.89287614A>T 25+54 25+54 NM_001201407.1:c.25+54A>T p.? p.? 2 2 54 5' 90.7791 XI.65 0.997729 9.74597 90.7791 XI.65 0.997729 9.78967 0 Cryptic Acceptor Strongly Activated 89287628 2.78368 0.056262 7.06397 0.176475 81.2059 rs75637955 no no 0 A 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30760 8636 838 298 1596 0 14922 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion A T A>T 0.071 -0.440 247 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.4822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.05 182 ENSG00000170100 ZNF778 ZNF778 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75637955 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.251e-05 0 0 0 0 6.702e-05 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . 0.011 . . rs75637955 rs75637955 1 1538 10 1/0 0,255,255 +rs34607200 (chr16:89299575 A/T) 16 89299575 A T Not on a known gene +rs62068543 (chr16:89299598 A/T) 16 89299598 A T Not on a known gene +rs878864180 16 89334847 G A - ANKRD11 21316 Ankyrin repeat domain 11 NM_001256182.1 -1 9381 7992 NP_001243111.1 Q6UB99 substitution 3'UTR GRCh37 89334847 89334847 Chr16(GRCh37):g.89334847G>A *39 *39 NM_001256182.1:c.*39C>T p.? p.? 14 611192 225 3' 81.5189 XI.85 0.807738 19.271 81.5189 XI.85 0.807738 19.271 0 Cryptic Acceptor Strongly Activated 89334836 0.171754 0.012402 69.3054 1.33591 0.025979 73.4073 rs878864180 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 99602 5820 22478 5108 9872 15224 33558 4622 2920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 65 Exomes transition C T C>T 0.000 -0.360 210 PASS . . . . . . . . . . . ENSG00000268218:ENST00000602042:exon1:c.G329A:p.R110H . . . . 0.18446602 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.0974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic UTR3 . . . @ . . . 0.51 0.74 182 ENSG00000268218 AX747440 ANKRD11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . rs3747472 rs3747472 rs3747472 rs3747472 1 1538 10 1/0 0,233,255 +rs763364497 16 89784469 C T - VPS9D1 13526 VPS9 domain containing 1 NM_004913.2 -1 2749 1896 NP_004904.2 Q9Y2B5 substitution intron GRCh37 89784469 89784469 Chr16(GRCh37):g.89784469C>T 175+966 175+966 NM_004913.2:c.175+966G>A p.? p.? 2 2 966 5' 83.8893 X.72 0.994331 8.45916 83.8893 X.72 0.994331 8.45916 0 rs763364497 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 129024 6188 23720 8048 9916 22206 50094 5246 3606 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 93 Exomes transition G A G>A 0.543 1.577 180 PASS . . . . . . . . . . . . . . . . 0.11363637 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 176.0 . . . . . . . . . . -0.1568 . . . . . . . . 1.199e-03 . . . 0 0.0020 0 0 0 0.0003 0 0.0031 0 0.0022 0 0 0 0.0004 0 0.0031 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000261373 LOC100128881 VPS9D1-AS1 . uc002foo.1:c.*29C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs763364497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +rs763364497 16 89784469 C T - VPS9D1-AS1 48915 VPS9D1 antisense RNA 1 NR_036480.1 1 1753 0 substitution exon GRCh37 89784469 89784469 Chr16(GRCh37):g.89784469C>T 1649 1649 NR_036480.1:n.1649C>T 4 718 3' 80.7367 5.43644 0.544542 IV.94 80.7367 5.43644 0.544542 IV.94 0 rs763364497 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 129024 6188 23720 8048 9916 22206 50094 5246 3606 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 93 Exomes transition C T C>T 0.543 1.577 180 PASS . . . . . . . . . . . . . . . . 0.11363637 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 176.0 . . . . . . . . . . -0.1568 . . . . . . . . 1.199e-03 . . . 0 0.0020 0 0 0 0.0003 0 0.0031 0 0.0022 0 0 0 0.0004 0 0.0031 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000261373 LOC100128881 VPS9D1-AS1 . uc002foo.1:c.*29C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs763364497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +. 16 89784471 CT C - VPS9D1 13526 VPS9 domain containing 1 NM_004913.2 -1 2749 1896 NP_004904.2 Q9Y2B5 deletion intron GRCh37 89784472 89784472 Chr16(GRCh37):g.89784472del 175+963 175+963 NM_004913.2:c.175+963del p.? p.? 2 2 963 5' 83.8893 X.72 0.994331 8.45916 83.8893 X.72 0.994331 8.45916 0 rs752637979 yes no Frequency 1 T 0.000000 0 0.000032 0.000281 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000281 5 4 1 0 0 0 0 0 0 158342 14242 24444 8344 11454 22190 64854 8264 4550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.1329114 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 158 . . . . . . . . . . . . . . . . . . . 1.905e-03 . . . 0.0093 0.0027 0 0 0 0.0006 0 0.0034 0.0174 0.0029 0 0 0 0.0007 0 0.0034 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . . . . . . . . ENSG00000261373 LOC100128881 VPS9D1-AS1 . uc002foo.1:c.*32delT . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 3.125e-05 4.236e-05 0 0 0 0 0 0 0.0001 3.295e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,88 +. 16 89784471 CT C - VPS9D1-AS1 48915 VPS9D1 antisense RNA 1 NR_036480.1 1 1753 0 deletion exon GRCh37 89784472 89784472 Chr16(GRCh37):g.89784472del 1652 1652 NR_036480.1:n.1652del 4 721 3' 80.7367 5.43644 0.544542 IV.94 80.7367 5.43644 0.544542 IV.94 0 rs752637979 yes no Frequency 1 T 0.000000 0 0.000032 0.000281 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000281 5 4 1 0 0 0 0 0 0 158342 14242 24444 8344 11454 22190 64854 8264 4550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.1329114 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 158 . . . . . . . . . . . . . . . . . . . 1.905e-03 . . . 0.0093 0.0027 0 0 0 0.0006 0 0.0034 0.0174 0.0029 0 0 0 0.0007 0 0.0034 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . . . . . . . . ENSG00000261373 LOC100128881 VPS9D1-AS1 . uc002foo.1:c.*32delT . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 3.125e-05 4.236e-05 0 0 0 0 0 0 0.0001 3.295e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,88 +rs555019210 16 89882887 G A - FANCA 3582 Fanconi anemia complementation group A NM_000135.3 -1 5463 4368 NP_000126.2 O15360 substitution intron GRCh37 89882887 89882887 Chr16(GRCh37):g.89882887G>A 79+58 79+58 NM_000135.3:c.79+58C>T p.? p.? 1 1 607139 58 5' 76.8306 6.85751 0.808456 9.99778 76.8306 6.85751 0.808456 10.1402 0 rs555019210 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.003100 0.000000 0.001000 0.002900 0.002833 0.000213 0.000598 0.000000 0.000000 0.006624 0.003220 0.005366 0.000754 0.006624 254 2 7 0 0 86 119 38 2 89654 9370 11710 5086 3806 12984 36962 7082 2654 0.000022 0.000000 0.000000 0.000000 0.000000 0.000154 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 252 2 7 0 0 84 119 38 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.008 -0.279 255 PASS . . . . . . 0.0012 0.0029 . 0.001 0.0031 ENSG00000187741:ENST00000567943:exon1:c.C137T:p.P46L . . . . 0.36 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . I.34 . . . . . . . . 2.225e-03 . . . 0 0.0122 0 0 . 0.0017 0 0.0148 0 0.0121 0 0 . 0.0017 0 0.0148 nonsynonymous_SNV . . . . . exonic intronic intronic . . . 0.0012 . . . . . . ENSG00000187741 FANCA FANCA . . . . . . 114 0.00175449 64976 106 0.00176708 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs555019210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0031 0.0006 0 0 0.0056 0.0030 0.0012 0.0066 0.0002 0.0023 0 0 0 0.0051 0.0035 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs76646627 16 90095558 C T - GAS8 4166 Growth arrest-specific 8 NM_001481.2 1 3185 1437 NP_001472.1 O95995 substitution intron GRCh37 90095558 90095558 Chr16(GRCh37):g.90095558C>T 90+1428 90+1428 NM_001481.2:c.90+1428C>T p.? p.? 2 2 605178 1428 5' 89.8591 9.60237 0.981371 X.02 89.8591 9.60237 0.981371 X.02 0 rs76646627 yes no Frequency 1 C 0.000000 0 0.000056 0.000545 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000198 0.000545 11 10 0 0 0 0 0 0 1 197772 18332 25228 8744 12250 24002 84656 19498 5062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 10 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258 Thyroid|Salivary gland|Oesophagus|Lung|Liver|Large intestine|Haematopoietic and lymphoid tissue|Cervix|Central nervous system 0.001339|0.012658|0.002135|0.000419|0.000844|0.001345|0.000283|0.006079|0.000416 747|79|1405|2388|2371|2231|3530|329|2405 transition C T C>T 0.000 -0.360 177 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.G193A:p.G65S C16orf3:uc002fqk.1:exon1:c.G193A:p.G65S . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 122.0 . . . . . . . . . . -1.2537 . . . . . . . . . . . . 0.0019 0.0002 0 0 0 0 0 0 0.0020 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.2 0.06 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . LowAF . rs76646627 . . . . . . . . . . . . II.36 0.005099 ENST00000408886 1.II -1.14 . . O95177 . . . . . . . . . 0.0007 4.755e-05 0 0 0 0 0 0.0002 0 0.0004 0.0001 0 0 0 0 0 0 . . . . -0.326 -0.326000 . . . . . 1.0E-177 . . . . . . . . . -0.326 . . . . rs76646627 rs76646627 1 1538 10 1/0 0,218,255 +rs76646627 16 90095558 C T - GAS8-AS1 1197 GAS8 antisense RNA 1 NR_122031.1 -1 994 0 substitution exon GRCh37 90095558 90095558 Chr16(GRCh37):g.90095558C>T 752 752 NR_122031.1:n.752G>A 1 605179 rs76646627 yes no Frequency 1 C 0.000000 0 0.000056 0.000545 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000198 0.000545 11 10 0 0 0 0 0 0 1 197772 18332 25228 8744 12250 24002 84656 19498 5062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 10 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258 Thyroid|Salivary gland|Oesophagus|Lung|Liver|Large intestine|Haematopoietic and lymphoid tissue|Cervix|Central nervous system 0.001339|0.012658|0.002135|0.000419|0.000844|0.001345|0.000283|0.006079|0.000416 747|79|1405|2388|2371|2231|3530|329|2405 transition G A G>A 0.000 -0.360 177 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.G193A:p.G65S C16orf3:uc002fqk.1:exon1:c.G193A:p.G65S . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 122.0 . . . . . . . . . . -1.2537 . . . . . . . . . . . . 0.0019 0.0002 0 0 0 0 0 0 0.0020 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.2 0.06 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . LowAF . rs76646627 . . . . . . . . . . . . II.36 0.005099 ENST00000408886 1.II -1.14 . . O95177 . . . . . . . . . 0.0007 4.755e-05 0 0 0 0 0 0.0002 0 0.0004 0.0001 0 0 0 0 0 0 . . . . -0.326 -0.326000 . . . . . 1.0E-177 . . . . . . . . . -0.326 . . . . rs76646627 rs76646627 1 1538 10 1/0 0,218,255 +rs77382359 16 90095573 C T - GAS8 4166 Growth arrest-specific 8 NM_001481.2 1 3185 1437 NP_001472.1 O95995 substitution intron GRCh37 90095573 90095573 Chr16(GRCh37):g.90095573C>T 90+1443 90+1443 NM_001481.2:c.90+1443C>T p.? p.? 2 2 605178 1443 5' 89.8591 9.60237 0.981371 X.02 89.8591 9.60237 0.981371 X.02 0 rs77382359 yes no Frequency 1 C 0.000000 0 0.000257 0.000162 0.000203 0.000000 0.001390 0.000734 0.000072 0.000000 0.000408 0.001390 50 3 5 0 17 17 6 0 2 194470 18540 24672 8372 12234 23154 83776 18820 4902 0.000010 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 48 3 5 0 17 15 6 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431 Upper aerodigestive tract|Thyroid|Skin|Oesophagus|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system 0.004823|0.004016|0.000812|0.000712|0.000896|0.000283|0.000832 1244|747|1232|1405|2231|3530|2405 transition C T C>T 0.012 -0.037 213 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.G178A:p.V60I C16orf3:uc002fqk.1:exon1:c.G178A:p.V60I . . . 0.1954023 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . -1.0059 . . . . . . . . 1.879e-04 . . . 0.0005 0.0005 0 0.0021 0 0.0001 0 0.0011 0.0006 0.0005 0 0.0042 0 6.29e-05 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.04 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs77382359 0.011 0.007 . . . . . . . . . . . 0.03807 ENST00000408886 . . . . O95177 . . . . . . . . . 0.0002 0.0003 0.0002 0 0.0015 0 7.148e-05 0.0002 0.0007 0.0001 0.0001 0 0 0.0006 0 7.232e-05 0.0011 . . . . 0.000 0.000000 . . . . . 1.0E-213 . . . . . . . . . 0.000 . 0.011 . . rs77382359 rs77382359 1 1538 10 1/0 0,240,255 +rs77382359 16 90095573 C T - GAS8-AS1 1197 GAS8 antisense RNA 1 NR_122031.1 -1 994 0 substitution exon GRCh37 90095573 90095573 Chr16(GRCh37):g.90095573C>T 737 737 NR_122031.1:n.737G>A 1 605179 rs77382359 yes no Frequency 1 C 0.000000 0 0.000257 0.000162 0.000203 0.000000 0.001390 0.000734 0.000072 0.000000 0.000408 0.001390 50 3 5 0 17 17 6 0 2 194470 18540 24672 8372 12234 23154 83776 18820 4902 0.000010 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 48 3 5 0 17 15 6 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431 Upper aerodigestive tract|Thyroid|Skin|Oesophagus|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system 0.004823|0.004016|0.000812|0.000712|0.000896|0.000283|0.000832 1244|747|1232|1405|2231|3530|2405 transition G A G>A 0.012 -0.037 213 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.G178A:p.V60I C16orf3:uc002fqk.1:exon1:c.G178A:p.V60I . . . 0.1954023 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . -1.0059 . . . . . . . . 1.879e-04 . . . 0.0005 0.0005 0 0.0021 0 0.0001 0 0.0011 0.0006 0.0005 0 0.0042 0 6.29e-05 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.04 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs77382359 0.011 0.007 . . . . . . . . . . . 0.03807 ENST00000408886 . . . . O95177 . . . . . . . . . 0.0002 0.0003 0.0002 0 0.0015 0 7.148e-05 0.0002 0.0007 0.0001 0.0001 0 0 0.0006 0 7.232e-05 0.0011 . . . . 0.000 0.000000 . . . . . 1.0E-213 . . . . . . . . . 0.000 . 0.011 . . rs77382359 rs77382359 1 1538 10 1/0 0,240,255 +rs62640380 16 90095582 T C - GAS8 4166 Growth arrest-specific 8 NM_001481.2 1 3185 1437 NP_001472.1 O95995 substitution intron GRCh37 90095582 90095582 Chr16(GRCh37):g.90095582T>C 90+1452 90+1452 NM_001481.2:c.90+1452T>C p.? p.? 2 2 605178 1452 5' 89.8591 9.60237 0.981371 X.02 89.8591 9.60237 0.981371 X.02 0 rs62640380 no no 0 0.000000 0 0.000297 0.000119 0.000333 0.000000 0.000999 0.000662 0.000196 0.000055 0.000419 0.000999 56 2 8 0 12 15 16 1 2 188382 16862 24060 8176 12018 22648 81818 18026 4774 0.000011 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 54 2 8 0 12 13 16 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430 Upper aerodigestive tract|Thyroid|Skin|Salivary gland|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.004823|0.008032|0.000812|0.012658|0.001793|0.000578|0.000283 1244|747|1232|79|2231|1729|3530 transition T C T>C 0.031 -0.037 255 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.A169G:p.S57G C16orf3:uc002fqk.1:exon1:c.A169G:p.S57G . . . 0.325 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 80.0 . . . . . . . . . . -0.9980 . . . . . . . . . . . . 0.0003 0.0005 0.0020 0.0011 0 0.0002 0 0.0010 0.0003 0.0005 0.0021 0.0016 0 0.0002 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.05 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs62640380 0.022 0.022 . . . . . . . . . . . 0.099678 ENST00000408886 . . . . O95177 . . . . . . . . . 0.0001 0.0003 0.0003 0 0.0011 6.844e-05 0.0002 0.0003 0.0007 0.0001 0.0002 0 0 0 0 0.0002 0.0011 . . . . 0.000 0.000000 . . . . . 1.0E-255 . . . . . . . . . 0.000 . 0.022 . . rs62640380 rs62640380 1 1538 10 1/0 0,255,255 +rs62640380 16 90095582 T C - GAS8-AS1 1197 GAS8 antisense RNA 1 NR_122031.1 -1 994 0 substitution exon GRCh37 90095582 90095582 Chr16(GRCh37):g.90095582T>C 728 728 NR_122031.1:n.728A>G 1 605179 rs62640380 no no 0 0.000000 0 0.000297 0.000119 0.000333 0.000000 0.000999 0.000662 0.000196 0.000055 0.000419 0.000999 56 2 8 0 12 15 16 1 2 188382 16862 24060 8176 12018 22648 81818 18026 4774 0.000011 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 54 2 8 0 12 13 16 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430 Upper aerodigestive tract|Thyroid|Skin|Salivary gland|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.004823|0.008032|0.000812|0.012658|0.001793|0.000578|0.000283 1244|747|1232|79|2231|1729|3530 transition A G A>G 0.031 -0.037 255 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.A169G:p.S57G C16orf3:uc002fqk.1:exon1:c.A169G:p.S57G . . . 0.325 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 80.0 . . . . . . . . . . -0.9980 . . . . . . . . . . . . 0.0003 0.0005 0.0020 0.0011 0 0.0002 0 0.0010 0.0003 0.0005 0.0021 0.0016 0 0.0002 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.05 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs62640380 0.022 0.022 . . . . . . . . . . . 0.099678 ENST00000408886 . . . . O95177 . . . . . . . . . 0.0001 0.0003 0.0003 0 0.0011 6.844e-05 0.0002 0.0003 0.0007 0.0001 0.0002 0 0 0 0 0.0002 0.0011 . . . . 0.000 0.000000 . . . . . 1.0E-255 . . . . . . . . . 0.000 . 0.022 . . rs62640380 rs62640380 1 1538 10 1/0 0,255,255 +. (chr16:90160346 A/C) 16 90160346 A C Not on a known gene +. (chr16:90160355 C/T) 16 90160355 C T Not on a known gene +. (chr16:90160361 C/G) 16 90160361 C G Not on a known gene +. (chr16:90160372 C/A) 16 90160372 C A Not on a known gene +rs200589860 (chr16:90160400 C/T) 16 90160400 C T Not on a known gene +rs201142204 (chr16:90160405 G/C) 16 90160405 G C Not on a known gene +rs200989144 (chr16:90160413 C/T) 16 90160413 C T Not on a known gene +rs201867141 (chr16:90160421 T/C) 16 90160421 T C Not on a known gene +rs8080389 17 1371818 C T - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1371818 1371818 Chr17(GRCh37):g.1371818C>T 2611-28 2611-28 NM_001080779.1:c.2611-28G>A p.? p.? 26 25 606538 -28 3' 82.4791 9.58045 0.91818 IX.28 82.4791 9.58045 0.91818 X.39 0 rs8080389 yes no Frequency/1000G 2 T 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999960 0.999958 1.000000 1.000000 0.999469 1.000000 1.000000 1.000000 1.000000 1.000000 275911 23915 34396 10126 18832 30770 125936 25504 6432 275922 23916 34396 10126 18842 30770 125936 25504 6432 0.999920 0.999916 1.000000 1.000000 0.998939 1.000000 1.000000 1.000000 1.000000 137950 11957 17198 5063 9411 15385 62968 12752 3216 11 1 0 0 10 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -3.184 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . 0.2880 . . . . . . . . 1.000 . . . 1 1.0000 1 0.9998 1 1 1 1 1 1.0000 1 0.9996 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.32 0.23 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs8080389 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 0.9994 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs8080389 rs8080389 rs8080389 rs8080389 1 1538 255 1.I 0,0,255 +rs397776021 17 1372653 C T - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372653 1372653 Chr17(GRCh37):g.1372653C>T 2610+172 2610+172 NM_001080779.1:c.2610+172G>A p.? p.? 25 25 606538 172 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs397776021 yes no Frequency 1 C 0.000000 0 0.000080 0.000140 0.000000 0.000000 0.000000 0.000000 0.000087 0.000000 0.000000 0.000140 2 1 0 0 0 0 1 0 0 25130 7154 732 242 1262 0 11524 3390 826 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 55 Genomes transition G A G>A 0.000 0.125 211 PASS . . . . . . . . . . . . . . . . 0.1884058 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.0502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.2 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs397776021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.959e-05 0 0 0 0 8.678e-05 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs45612536 rs45612536 . . 1 1538 10 1/0 0,250,255 +rs397821329 17 1372654 T C - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372654 1372654 Chr17(GRCh37):g.1372654T>C 2610+171 2610+171 NM_001080779.1:c.2610+171A>G p.? p.? 25 25 606538 171 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs397821329 yes no Frequency 1 T 0.000000 0 0.000121 0.000282 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 0.000282 3 2 0 0 0 0 1 0 0 24882 7102 722 244 1266 0 11334 3390 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Genomes transition A G A>G 0.000 -1.167 216 PASS . . . . . . . . . . . . . . . . 0.20289855 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.18 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs397821329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0001 0 0 0 0 8.823e-05 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs45469100 rs45469100 . . 1 1538 10 1/0 0,251,255 +rs45603038 17 1372665 G C - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372665 1372665 Chr17(GRCh37):g.1372665G>C 2610+160 2610+160 NM_001080779.1:c.2610+160C>G p.? p.? 25 25 606538 160 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs45603038 yes no Frequency 1 G 0.000000 0 0.000088 0.000159 0.000000 0.000000 0.000000 0.000000 0.000097 0.000000 0.000000 0.000159 2 1 0 0 0 0 1 0 0 22732 6290 686 230 1174 0 10320 3272 760 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 62 Genomes transversion C G C>G 0.000 -1.086 221 PASS . . . . . . . . . . . . . . . . 0.21875 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.22 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45603038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 8.798e-05 0 0 0 0 9.69e-05 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs45603038 rs45603038 rs45603038 rs45603038 1 1538 10 1/0 0,255,255 +rs79776316 17 1372666 A G - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372666 1372666 Chr17(GRCh37):g.1372666A>G 2610+159 2610+159 NM_001080779.1:c.2610+159T>C p.? p.? 25 25 606538 159 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs79776316 yes no Frequency 1 A 0.000000 0 0.000088 0.000160 0.000000 0.000000 0.000000 0.000000 0.000097 0.000000 0.000000 0.000160 2 1 0 0 0 0 1 0 0 22754 6244 674 226 1152 0 10334 3336 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 62 Genomes transition T C T>C 0.000 -1.974 217 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.4352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.2 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79776316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 8.79e-05 0 0 0 0 9.677e-05 0 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs79776316 rs79776316 1 1538 10 1/0 0,252,255 +rs79563127 17 1372672 C A - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372672 1372672 Chr17(GRCh37):g.1372672C>A 2610+153 2610+153 NM_001080779.1:c.2610+153G>T p.? p.? 25 25 606538 153 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs79563127 no no 0 C 0.000000 0 0.000098 0.000163 0.000000 0.000000 0.000000 0.000000 0.000114 0.000000 0.000000 0.000163 2 1 0 0 0 0 1 0 0 20444 6150 620 212 1066 0 8752 2968 676 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 68 Genomes transversion G T G>T 0.000 0.286 213 PASS . . . . . . . . . . . . . . . . 0.19402985 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . 0.0742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.19 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79563127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.783e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs79563127 rs79563127 1 1538 10 1/0 0,251,255 +rs79752500 17 1372674 A G - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372674 1372674 Chr17(GRCh37):g.1372674A>G 2610+151 2610+151 NM_001080779.1:c.2610+151T>C p.? p.? 25 25 606538 151 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs79752500 no no 0 A 0.000000 0 0.000098 0.000170 0.000000 0.000000 0.000000 0.000000 0.000112 0.000000 0.000000 0.000170 2 1 0 0 0 0 1 0 0 20338 5872 618 214 1098 0 8914 2938 684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 70 Genomes transition T C T>C 0.000 -1.974 220 PASS . . . . . . . . . . . . . . . . 0.21538462 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.4804 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.18 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79752500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.834e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs79752500 rs79752500 1 1538 10 1/0 0,254,255 +rs74369015 17 1372675 G C - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372675 1372675 Chr17(GRCh37):g.1372675G>C 2610+150 2610+150 NM_001080779.1:c.2610+150C>G p.? p.? 25 25 606538 150 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs74369015 no no 0 G 0.000000 0 0.000097 0.000160 0.000000 0.000000 0.000000 0.000000 0.000112 0.000000 0.000000 0.000160 2 1 0 0 0 0 1 0 0 20668 6266 620 212 1090 0 8914 2882 684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Genomes transversion C G C>G 0.000 0.286 215 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . 0.0742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.36 0.21 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74369015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.677e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . rs74369015 rs74369015 1 1538 10 1/0 0,255,255 +rs45621132 17 1372691 T C - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372691 1372691 Chr17(GRCh37):g.1372691T>C 2610+134 2610+134 NM_001080779.1:c.2610+134A>G p.? p.? 25 25 606538 134 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs45621132 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.44578314 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . . . . . . . . . -0.4776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.18 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45621132 0.065 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 rs45621132 rs45621132 rs45621132 rs45621132 1 1538 10 1/0 0,255,255 +rs140207094 17 2297571 G A - MNT 7188 MAX binding protein NM_020310.2 -1 4842 1749 NP_064706.1 Q99583 substitution intron GRCh37 2297571 2297571 Chr17(GRCh37):g.2297571G>A 695+28 695+28 NM_020310.2:c.695+28C>T p.? p.? 3 3 603039 28 5' 85.464 6.99123 0.934924 0 85.464 6.99123 0.934924 0 0 rs140207094 yes no Frequency/1000G 2 A 0.000000 0 transition C T C>T 0.000 -2.942 205 PASS 0.43 0.29 0.25 0.3 0.22 . . . . . . . . . . . 0.17391305 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||MNT|mRNA|CODING|NM_020310|) . . . . . . . 0.2002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.25 0.34 182 ENSG00000070444 MNT MNT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140207094 0.076 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . 0.43 . . rs140207094 rs140207094 1 1538 10 1/0 0,255,255 +. 17 2297571 G GCA - MNT 7188 MAX binding protein NM_020310.2 -1 4842 1749 NP_064706.1 Q99583 duplication intron GRCh37 2297571 2297572 Chr17(GRCh37):g.2297572_2297573dup 695+26 695+27 NM_020310.2:c.695+26_695+27dup p.? p.? 3 3 603039 27 5' 85.464 6.99123 0.934924 0 85.464 6.99123 0.934924 0 0 rs539682697 yes no Frequency/1000G 2 0.249401 CA 1249 0.249401 0.254900 0.218800 0.311500 0.175000 0.299700 TG 255 Pass . . . . . 0.25 0.25 0.3 0.31 0.17 0.22 . . . . . 0.4918033 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61 . . INTRON(MODIFIER||||MNT|mRNA|CODING|NM_020310|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000070444 MNT MNT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35367394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,31 +. 17 2597729 GGACA G - CLUH 29094 Clustered mitochondria (cluA/CLU1) homolog NM_015229.3 -1 5224 3930 NP_056044.3 O75153 deletion intron GRCh37 2597730 2597733 Chr17(GRCh37):g.2597730_2597733del 2820+41 2820+44 NM_015229.3:c.2820+41_2820+44del p.? p.? 17 17 616184 41 5' 79.7784 8.06623 0.835743 8.90948 79.7784 8.06623 0.835743 8.60068 0 GTCC 255 Pass . . . . . . . . . . . . . . . . 0.3392857 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000132361 CLUH CLUH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +. 17 2597729 GGACA G - MIR6776 50193 MicroRNA 6776 NR_106834.1 -1 59 0 deletion upstream GRCh37 2597730 2597733 Chr17(GRCh37):g.2597730_2597733del -1520 -1517 NR_106834.1:n.-1520_-1517del p.? p.? 1 GTCC 255 Pass . . . . . . . . . . . . . . . . 0.3392857 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000132361 CLUH CLUH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +rs200048826 17 3182005 C T - OR3A2 8283 Olfactory receptor, family 3, subfamily A, member 2 NM_002551.3 -1 1085 966 NP_002542.3 P47893 substitution synonymous exon GRCh37 3182005 3182005 Chr17(GRCh37):g.3182005C>T 225 225 NM_002551.3:c.225G>A p.Leu75= p.Leu75Leu 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs200048826 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.001000 0.001000 0.000000 0.000000 0.000275 0.000461 0.000102 0.000000 0.000793 0.000224 0.000274 0.000062 0.000275 0.000793 38 7 2 0 9 3 15 1 1 138046 15186 19576 3830 11354 13406 54822 16236 3636 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 7 2 0 9 3 15 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.063 -1.893 L Leu CTG 0.404 L Leu CTA 0.070 75 255 PASS 0.14 0.11 0.06 0.09 0.12 . 0.0004 . 0.001 . 0.001 ENSG00000221882:ENST00000408891:exon1:c.G225A:p.L75L OR3A2:uc002fvg.3:exon1:c.G225A:p.L75L OR3A2:NM_002551:exon1:c.G225A:p.L75L . . 0.39641944 . . @ 155 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 391.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L75|OR3A2|mRNA|CODING|NM_002551|NM_002551.ex.1) . . . . . . . -0.1734 . . . . . . . . 1.956e-04 . . . 0.0021 0.0012 0 0.0015 0 0.0012 0 0.0012 0.0033 0.0010 0 0.0023 0 0.0003 0 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.17 0.15 182 ENSG00000221882 OR3A2 OR3A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200048826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0003 0.0001 0 0.0008 7.82e-05 0.0003 0.0004 0.0002 0.0002 0.0002 0 0 0.0007 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs12451522 rs12451522 rs12451522 rs12451522 1 1538 10 1/0 0,194,230 +rs539537335 17 3664602 C T - ITGAE 6147 "Integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)" NM_002208.4 -1 3861 3540 NP_002199.3 P38570 substitution intron GRCh37 3664602 3664602 Chr17(GRCh37):g.3664602C>T 433+95 433+95 NM_002208.4:c.433+95G>A p.? p.? 5 5 604682 95 5' 82.3421 8.92377 0.987583 6.28592 82.3421 8.92377 0.987583 6.28592 0 rs539537335 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000969 0.000687 0.003580 0.000000 0.000000 0.000000 0.001400 0.000000 0.000000 0.003580 30 6 3 0 0 0 21 0 0 30964 8730 838 302 1622 0 14998 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 6 3 0 0 0 21 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 -0.037 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.34567901 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . INTRON(MODIFIER||||ITGAE|mRNA|CODING|NM_002208|) . . . . . . . -0.1346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000083457 ITGAE ITGAE . . . . . . 60 0.000923418 64976 58 0.000966892 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs539537335 . 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0010 0.0036 0 0 0 0.0014 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199594337 17 3765531 C T - CAMKK1 1469 Calcium/calmodulin-dependent protein kinase kinase 1, alpha NM_172207.2 -1 2458 1563 NP_757344.2 substitution downstream GRCh37 3765531 3765531 Chr17(GRCh37):g.3765531C>T *3667 *3667 NM_172207.2:c.*3667G>A p.? p.? 16 611411 3775 3' 84.2337 X.15 0.967139 13.0525 84.2337 X.15 0.967139 13.0525 0 rs199594337 yes no Frequency 1 C 0.000000 0 0.000551 0.000048 0.000000 0.000000 0.000000 0.000000 0.000275 0.004591 0.000174 0.004591 131 1 0 0 0 0 29 100 1 237822 20898 31284 9418 16760 26638 105282 21782 5760 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 1 0 0 0 0 29 100 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.984 1.174 255 PASS . . . . . . . . . . . . . . . . 0.43220338 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.429 . @ . . . . . 1 0.879 . . 118.0 . . . . . . . . . . 0.3292 0.335 0.329 c . . . . . 3.016e-04 . . . 0 0.0003 0 0 0.0087 0.0005 0 0 0 0.0005 0 0 0.0098 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.712 . . exonic exonic exonic . . 0.459 @ . . . 0.36 0.35 182 ENSG00000004660 CAMKK1 CAMKK1 . . . 0.001 0.082 . 30 0.000461709 64976 30 0.000500117 59986 Uncertain_significance . 0 . 0.395 . . . . D 0.716 0.072 . . 37 . 0.665 . . 0.664 . . . 0.735 0.259 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.125 . . 0 0 0 0 0 0 . 0.481 . . 0.405 . . . . . . 1 0.586 . . . . . 0.284 . 0.210 . HET 0.02 rs199594337 . . . . . . . . . . . . VII.59 . . 4.III 4.III . 0.030000 Q8N5S9 . . . . . 0.309 . . 4.III 0 0.0005 0 0 0 0.0040 0.0003 0.0002 0 0.0001 0.0010 0 0 0 0.0074 0.0003 0 . . 0.567 . 2.551 2.551000 . . 0.030000 . . 1.0E-255 0.990 0.367 . 0.604 0.995 . 0.464 . 0.434 2.551 0.598 . . . rs199594337 rs199594337 1 1538 10 1/0 0,247,255 +. 17 4439727 T G - SPNS2 26992 Spinster homolog 2 (Drosophila) NM_001124758.2 1 3444 1650 NP_001118230.1 Q8IVW8 substitution intron GRCh37 4439727 4439727 Chr17(GRCh37):g.4439727T>G 1607+6 1607+6 NM_001124758.2:c.1607+6T>G p.? p.? 11 11 612584 6 5' 71.5327 7.394 0.904238 XI.21 66.5139 2.18848 0.089751 7.98975 -0.558308 transversion T G T>G 1.000 2.869 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . 2.1526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000183018 SPNS2 SPNS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.876 . . . . . . IV.82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs780187458 17 4448020 T G - MYBBP1A 7546 MYB binding protein (P160) 1a NM_001105538.1 -1 4105 3999 NP_001099008.1 substitution intron GRCh37 4448020 4448020 Chr17(GRCh37):g.4448020T>G 2481+26 2481+26 NM_001105538.1:c.2481+26A>C p.? p.? 18 18 604885 26 5' 80.8983 8.18959 0.96977 14.0502 80.8983 8.18959 0.96977 14.483 0 rs780187458 yes no Frequency 1 T 0.000000 0 0.000175 0.000237 0.000000 0.000000 0.000000 0.000000 0.000345 0.000183 0.000000 0.000345 22 3 0 0 0 0 17 2 0 125520 12680 19392 4602 10824 14266 49334 10950 3472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 3 0 0 0 0 17 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.521 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.1549 . . . . . . . . 1.100e-04 . . . 0.0008 0.0001 0 0 0 0 0 0 0.0009 0.0001 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132382 MYBBP1A MYBBP1A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs780187458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0002 0.0004 0 0 0.0005 0.0003 0 0 0 0 0.0003 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs188072571 17 4721572 G A - PLD2 9068 Phospholipase D2 NM_002663.4 1 3496 2802 NP_002654.3 O14939 substitution intron GRCh37 4721572 4721572 Chr17(GRCh37):g.4721572G>A 1921-20 1921-20 NM_002663.4:c.1921-20G>A p.? p.? 19 18 602384 -20 3' 81.3838 7.71572 0.838608 7.83197 81.3838 7.63815 0.837967 7.37075 -0.00360584 rs188072571 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.002000 0.002900 0.002739 0.000666 0.000729 0.000501 0.000053 0.000884 0.003758 0.007249 0.003424 0.007249 755 16 25 5 1 27 473 186 22 275694 24028 34306 9976 18866 30554 125880 25658 6426 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 751 16 25 5 1 27 469 186 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4406 12982 24 0 24 0.0027907 0 0.0018453 0.0027907 0 0.0018453 64 transition G A G>A 0.008 -0.602 255 PASS . 0.0014 0.0028 . 0.0026 . 0.001 0.0029 . 0.002 0.001 . . . . . 0.40944883 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . 0.0018 0.0028 . 0.0018 0.0028 . -0.0358 . . . . . . . . 2.826e-03 . . . 0.0006 0.0026 0.0009 0 0.0074 0.0041 0.0043 0.0009 0.0004 0.0026 0.0008 0 0.0079 0.0036 0.0015 0.0009 . . . . . . UTR3 UTR3 intronic . . . 0.0010 . . . 0.5 0.57 182 ENSG00000129219 PLD2 PLD2 ENST00000575246:c.*1739G>A uc010vsj.2:c.*165G>A . . . . 235 0.00361672 64976 230 0.00383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188072571 . . . . . . . . . . . . . . . . . . . . . . . 0.001845 . . . . . 0.0004 0.0026 0.0007 0.0005 5.798e-05 0.0070 0.0036 0.0033 0.0009 0.0011 0.0041 0.0024 0 0 0.0089 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs188072571 rs188072571 1 1538 10 1/0 0,242,255 +rs189789565 17 5012509 C T - ZNF232 13026 Zinc finger protein 232 NM_014519.3 -1 1877 1335 NP_055334.2 substitution intron GRCh37 5012509 5012509 Chr17(GRCh37):g.5012509C>T 499-162 499-162 NM_014519.3:c.499-162G>A p.? p.? 3 2 616463 -162 3' 83.5212 8.0264 0.77727 2.77172 83.5212 8.0264 0.77727 2.77172 0 rs189789565 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001336 0.000000 0.000082 0.000000 0.000000 0.000453 0.001322 0.007497 0.002315 0.007497 257 0 2 0 0 9 115 120 11 192296 19648 24508 5522 14998 19888 86974 16006 4752 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 257 0 2 0 0 9 115 120 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.189 0.770 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.537037 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||ZNF232|mRNA|CODING|NM_014519|) . . . . . . . 0.6660 . . . . . . . . 1.248e-03 . . . 0 0.0015 0.0003 0 0.0083 0.0016 0 0.0006 0 0.0021 0.0003 0 0.0098 0.0020 0.0032 0.0006 . . . . . . UTR3 UTR3 intronic . . . 0.0002 . . . 0.62 0.64 182 ENSG00000167840 ZNF232 ZNF232 . . . . . . 89 0.00136974 64976 88 0.00146701 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189789565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 8.45e-05 0 0 0.0070 0.0010 0.0021 0.0005 0 0.0025 0 0 0 0.0092 0.0027 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs189789565 rs189789565 1 1538 10 1/0 0,255,255 +. 17 5334804 T TA - C1QBP 1243 Complement component 1, q subcomponent binding protein NM_001212.3 -1 1163 849 NP_001203.1 Q07021 duplication downstream GRCh37 5334804 5334805 Chr17(GRCh37):g.5334805dup *1530 *1530 NM_001212.3:c.*1530dup p.? p.? 6 601269 1680 3' 96.5052 8.01383 0.956116 8.01955 96.5052 8.01383 0.956116 8.01955 0 T 255 Pass . . . . . . . . . . . . . . . . 0.1594203 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intronic . . . . . . . . . . ENSG00000263272 AK098491 RPAIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,80 +. 17 5334804 T TA - RPAIN 28641 RPA interacting protein NM_001160243.1 1 2654 696 NP_001153715.1 duplication downstream GRCh37 5334820 5334821 Chr17(GRCh37):g.5334820dup *3223 *3223 NM_001160243.1:c.*3223dup p.? p.? 6 617299 3430 3' 87.1491 7.61401 0.973165 0 87.1491 7.61401 0.973165 0 0 A 255 Pass . . . . . . . . . . . . . . . . 0.1594203 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intronic . . . . . . . . . . ENSG00000263272 AK098491 RPAIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,80 +rs146505967 17 5445271 C T - NLRP1 14374 NLR family, pyrin domain containing 1 NM_033004.3 -1 5613 4422 NP_127497.1 Q9C000 substitution missense exon GRCh37 5445271 5445271 Chr17(GRCh37):g.5445271C>T 2605 2605 NM_033004.3:c.2605G>A p.Glu869Lys p.Glu869Lys 6 606636 77 3' 89.6639 XI.16 0.961601 8.18993 89.6639 XI.16 0.961601 7.40431 0 Leucine-rich repeat, ribonuclease inhibitor subtype rs146505967 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001578 0.000166 0.000029 0.000000 0.000000 0.000552 0.001533 0.008072 0.002011 0.008072 437 4 1 0 0 17 194 208 13 276984 24030 34418 10142 18870 30772 126518 25768 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 437 4 1 0 0 17 194 208 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4404 12994 10 2 12 0.00116279 0.000453926 0.000922651 0.00116279 0.000453926 0.000922651 79 transition G A G>A 0.000 -0.198 E Glu GAG 0.583 K Lys AAG 0.575 869 10 7 Little brown bat 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 233.89 34.45 Tolerated 0.08 III.40 good 2.059E-1 0.04557 255 PASS . 0.0009 . . 0.0026 . 0.0002 . . 0.001 . . . . . . 0.47916666 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.150 . @ . . . . . 1 0.088 . . 96.0 . . . 0.0005 0.0009 0.0012 0.0005 0.0009 0.0012 . -1.3700 -1.508 -1.370 c . . . . . 1.563e-03 . . . 9.737e-05 0.0010 0 0 0.0069 0.0012 0 0.0006 0.0001 0.0015 0 0 0.0084 0.0017 0.0015 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.082 0.0002 . . . 0.3 0.34 182 ENSG00000091592 NLRP1 NLRP1 . . . 1.000 0.489 . 88 0.00135435 64976 87 0.00145034 59986 Benign . 0 . 0.154 . . . . T 0.333 0.014 . . 37 . 0.443 . . 0.299 . . . 0.708 0.090 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.491 . . 0 0 0 0 0 0 . 0.380 . . 0.145 . . . . . . 0 0.321 . . . . . 0.121 . 0.235 . HET 0.03 rs146505967 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 4.705 8.03E-4 . II.13 -1.49 . 0.150000 . . . Name\x3dnsv907625 0.000923 . 0.113 . . . 0.0002 0.0014 2.978e-05 0 0 0.0079 0.0012 0.0016 0.0006 0.0001 0.0030 0 0 0 0.0095 0.0037 0.0041 . . 0.730 . -0.261 -0.261000 . . 0.150000 . . 1.0E-255 0.148 0.234 . 0.130 0.298 . 0.197 . 0.018 -0.261 0.666 0.0026 . . rs146505967 rs146505967 1 1538 10 1/0 0,255,255 +rs72836242 17 6690572 T C - FBXO39 28565 F-box protein 39 NM_153230.2 1 1667 1329 NP_694962.1 Q8N4B4 substitution intron GRCh37 6690572 6690572 Chr17(GRCh37):g.6690572T>C 1201-47 1201-47 NM_153230.2:c.1201-47T>C p.? p.? 4 3 609106 -47 3' 83.8248 5.69077 0.798043 5.99651 83.8248 5.69077 0.798043 5.80531 0 Cryptic Donor Strongly Activated 6690574 0.285424 0.003028 59.0641 1.97888 0.01851 63.1922 rs72836242 yes no Frequency/1000G 2 T 0.000000 0 0.332867 0.242800 0.325200 0.579400 0.219700 0.321300 transition T C T>C 0.126 -0.037 255 PASS . . . . . 0.24 0.33 0.32 0.58 0.22 0.33 . . . . . 0.43333334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||FBXO39|mRNA|CODING|NM_153230|) . . . . . . . -0.2026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3329 . . . 0.25 0.31 182 ENSG00000177294 FBXO39 FBXO39 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72836242 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72836242 rs72836242 rs72836242 1 1538 10 1/0 0,255,255 +rs199754411 17 7225034 C T - NEURL4 34410 Neuralized homolog 4 (Drosophila) NM_032442.2 -1 5187 4689 NP_115818.2 Q96JN8 substitution missense exon GRCh37 7225034 7225034 Chr17(GRCh37):g.7225034C>T 2944 2944 NM_032442.2:c.2944G>A p.Glu982Lys p.Glu982Lys 18 615865 73 3' 83.8372 XI.06 0.986884 XII.67 83.8372 XI.06 0.986884 XII.13 0 NEUZ rs199754411 yes no Frequency 1 C 0.000000 0 0.000716 0.000209 0.000029 0.001184 0.000000 0.000000 0.001124 0.001249 0.000931 0.001249 198 5 1 12 0 0 142 32 6 276526 23972 34408 10134 18864 30776 126308 25616 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 198 5 1 12 0 0 142 32 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8318 4012 12330 12 0 12 0.00144058 0 0.00097229 0.00144058 0 0.00097229 42 COSM4394386 Skin 0.000812 1232 transition G A G>A 1.000 2.788 E Glu GAG 0.583 K Lys AAG 0.575 982 11 8 Tetraodon 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C15 44.60 56.87 Deleterious 0.04 III.60 bad 3.78E-4 0.0003834 255 PASS . . . . . . . . . . . . . . . . 0.51492536 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.411 . @ . . . . . 1 0.886 . . 134.0 . . . . 0.001 0.0014 . 0.001 0.0014 . -0.0011 0.151 -0.001 c . . . . . 7.337e-04 . . . 0.0002 0.0006 0 0 0.0016 0.0011 0 0 0.0002 0.0007 0 0 0.0012 0.0012 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . 0.551 @ . . . 0.38 0.19 182 ENSG00000215041 NEURL4 NEURL4 . . . 0.995 0.336 . 31 0.000477099 64976 31 0.000516787 59986 Uncertain_significance . 0 . 0.425 . . . . T 0.074 0.003 . . 37 . 0.275 . . 0.175 . . . 0.327 0.317 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.126 . . 0.104 . . . . . . 0 0.169 . . . . . 0.373 . 0.393 . HET 0.13 rs199754411 . . . . . . . . . . . . IX.39 3.0E-4 . V.52 IV.54 . 0.390000 . . . . 0.000972 . 0.559 . . IV.54 0.0001 0.0006 2.979e-05 0.0012 0 0.0010 0.0010 0.0009 0 0.0003 0.0015 0 0 0 0.0029 0.0022 0.0010 . . 0.730 . 2.757 2.757000 . . 0.390000 . . 1.0E-255 1.000 0.715 . 0.308 0.454 . 0.510 . 0.490 2.757 0.871 0.0014 . . rs199754411 rs199754411 1 1538 10 1/0 0,247,255 +rs369868893 17 7340720 C T - FGF11 3667 Fibroblast growth factor 11 NM_004112.3 1 3058 678 NP_004103.1 Q92914 substitution upstream GRCh37 7340720 7340720 Chr17(GRCh37):g.7340720C>T -2220 -2220 NM_004112.3:c.-2220C>T p.? p.? 1 601514 -2413 5' 86.6769 9.89081 0.983906 15.0113 86.6769 9.89081 0.983906 15.0113 0 rs369868893 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.004000 0.001400 0.003235 0.000574 0.000429 0.000257 0.000000 0.000378 0.004560 0.008983 0.003709 0.008983 570 8 10 2 0 8 346 180 16 176200 13932 23298 7792 9792 21150 75884 20038 4314 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000299 0.000000 6 0 0 0 0 0 3 3 0 558 8 10 2 0 8 340 174 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8236 4004 12240 40 2 42 0.00483325 0.000499251 0.00341964 0.00483325 0.000499251 0.00341964 7 transition C T C>T 0.142 0.770 255 PASS . . . . . 0.0008 0.0012 0.0014 . 0.004 . . . TMEM102:NM_178518:exon3:c.C1422T:p.A474A . . 0.5102041 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . . 0.0005 0.0034 0.0048 0.0005 0.0034 0.0048 . I.42 . . . . . . . . 2.636e-03 . . . 0.0009 0.0036 0.0007 0 0.0209 0.0069 0 0.0004 0.0005 0.0051 0.0003 0 0.0215 0.0093 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.21 0.36 182 ENSG00000181284 TMEM102 TMEM102 . . . . . . 236 0.00363211 64976 230 0.00383423 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369868893 . . . . . . . . . . . . . . . . . . . . . . . 0.003420 . . . . . 0.0006 0.0034 0.0004 0.0003 0 0.0092 0.0049 0.0042 0.0004 0.0006 0.0027 0 0 0 0.0078 0.0032 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0048 . . rs369868893 rs369868893 1 1538 10 1/0 0,255,255 +rs369868893 17 7340720 C T - TMEM102 26722 Transmembrane protein 102 NM_001320444.1 1 2099 1527 NP_001307373.1 Q8N9M5 substitution synonymous exon GRCh37 7340720 7340720 Chr17(GRCh37):g.7340720C>T 1422 1422 NM_001320444.1:c.1422C>T p.Ala474= p.Ala474Ala 2 613936 1208 3' 88.3095 12.048 0.99811 X.08 88.3095 12.048 0.99811 X.08 0 rs369868893 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.004000 0.001400 0.003235 0.000574 0.000429 0.000257 0.000000 0.000378 0.004560 0.008983 0.003709 0.008983 570 8 10 2 0 8 346 180 16 176200 13932 23298 7792 9792 21150 75884 20038 4314 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000299 0.000000 6 0 0 0 0 0 3 3 0 558 8 10 2 0 8 340 174 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8236 4004 12240 40 2 42 0.00483325 0.000499251 0.00341964 0.00483325 0.000499251 0.00341964 7 transition C T C>T 0.142 0.770 A Ala GCC 0.403 A Ala GCT 0.263 474 255 PASS . . . . . 0.0008 0.0012 0.0014 . 0.004 . . . TMEM102:NM_178518:exon3:c.C1422T:p.A474A . . 0.5102041 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . . 0.0005 0.0034 0.0048 0.0005 0.0034 0.0048 . I.42 . . . . . . . . 2.636e-03 . . . 0.0009 0.0036 0.0007 0 0.0209 0.0069 0 0.0004 0.0005 0.0051 0.0003 0 0.0215 0.0093 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.21 0.36 182 ENSG00000181284 TMEM102 TMEM102 . . . . . . 236 0.00363211 64976 230 0.00383423 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369868893 . . . . . . . . . . . . . . . . . . . . . . . 0.003420 . . . . . 0.0006 0.0034 0.0004 0.0003 0 0.0092 0.0049 0.0042 0.0004 0.0006 0.0027 0 0 0 0.0078 0.0032 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0048 . . rs369868893 rs369868893 1 1538 10 1/0 0,255,255 +rs199996601 17 7386114 A G - POLR2A 9187 Polymerase (RNA) II (DNA directed) polypeptide A, 220kDa NM_000937.4 1 6738 5913 NP_000928.1 P24928 substitution upstream GRCh37 7386114 7386114 Chr17(GRCh37):g.7386114A>G -1970 -1970 NM_000937.4:c.-1970A>G p.? p.? 1 180660 -2063 5' 85.7103 8.69415 0.992262 XII.38 85.7103 8.69415 0.992262 XII.38 0 rs199996601 yes no Frequency 1 A 0.000000 0 0.000060 0.000000 0.000031 0.000100 0.000000 0.000000 0.000115 0.000000 0.000000 0.000115 16 0 1 1 0 0 14 0 0 267216 23536 32474 10032 17668 30110 121932 25172 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 1 1 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.992 0.528 203 PASS . . . . . . . . . . . ENSG00000259224:ENST00000412468:exon2:c.A811G:p.S271G SLC35G6:uc010cmj.1:exon2:c.A811G:p.S271G SLC35G6:NM_001102614:exon2:c.A811G:p.S271G . . 0.16867469 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.051 . . 83.0 . . . . . . . . . . -0.7480 -0.668 -0.748 c . . . . . 5.501e-03 . . . 0.0028 0.0040 0.0039 0.0029 0.0017 0.0049 0.0043 0.0032 0.0023 0.0035 0.0037 0.0050 0.0019 0.0038 0.0015 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.333 @ . . . 0.21 0.53 182 ENSG00000259224 SLC35G6 SLC35G6 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.643 0.050 . . 37 . 0.343 . . 0.245 . . . 0.440 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.055 . . . . . 0.115 . 0.281 . HET 0.65 rs199996601 . . . . . . . . . . . . 4.559 . ENST00000412468 4.VI II.97 . 0.390000 P0C7Q6 . . . . . 0.291 . . II.97 0 6.34e-05 3.159e-05 0.0001 0 0 0.0001 0 0 0 3.267e-05 0 0 0 0 6.733e-05 0 . . 0.391 . 0.560 0.560000 . . 0.390000 . . 1.0E-203 0.777 0.292 . 0.335 0.989 . 0.278 . 0.209 0.560 0.717 . . . rs199996601 rs199996601 1 1538 10 1/0 0,240,255 +rs199996601 17 7386114 A G - SLC35G6 31351 Solute carrier family 35, member G6 NM_001102614.1 1 1195 1017 NP_001096084.1 P0C7Q6 substitution missense exon GRCh37 7386114 7386114 Chr17(GRCh37):g.7386114A>G 811 811 NM_001102614.1:c.811A>G p.Ser271Gly p.Ser271Gly 2 808 3' 91.2718 9.32952 0.956223 XI.42 91.2718 9.32952 0.956223 XI.42 0 Drug/metabolite transporter rs199996601 yes no Frequency 1 A 0.000000 0 0.000060 0.000000 0.000031 0.000100 0.000000 0.000000 0.000115 0.000000 0.000000 0.000115 16 0 1 1 0 0 14 0 0 267216 23536 32474 10032 17668 30110 121932 25172 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 1 1 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.992 0.528 S Ser AGC 0.243 G Gly GGC 0.342 271 12 9 Platypus 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 252.56 0.00 Tolerated 0.1 III.33 203 PASS . . . . . . . . . . . ENSG00000259224:ENST00000412468:exon2:c.A811G:p.S271G SLC35G6:uc010cmj.1:exon2:c.A811G:p.S271G SLC35G6:NM_001102614:exon2:c.A811G:p.S271G . . 0.16867469 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.051 . . 83.0 . . . . . . . . . . -0.7480 -0.668 -0.748 c . . . . . 5.501e-03 . . . 0.0028 0.0040 0.0039 0.0029 0.0017 0.0049 0.0043 0.0032 0.0023 0.0035 0.0037 0.0050 0.0019 0.0038 0.0015 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.333 @ . . . 0.21 0.53 182 ENSG00000259224 SLC35G6 SLC35G6 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.643 0.050 . . 37 . 0.343 . . 0.245 . . . 0.440 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.055 . . . . . 0.115 . 0.281 . HET 0.65 rs199996601 . . . . . . . . . . . . 4.559 . ENST00000412468 4.VI II.97 . 0.390000 P0C7Q6 . . . . . 0.291 . . II.97 0 6.34e-05 3.159e-05 0.0001 0 0 0.0001 0 0 0 3.267e-05 0 0 0 0 6.733e-05 0 . . 0.391 . 0.560 0.560000 . . 0.390000 . . 1.0E-203 0.777 0.292 . 0.335 0.989 . 0.278 . 0.209 0.560 0.717 . . . rs199996601 rs199996601 1 1538 10 1/0 0,240,255 +rs199996601 17 7386114 A G - ZBTB4 23847 Zinc finger and BTB domain containing 4 NM_020899.3 -1 5942 3042 NP_065950.2 Q9P1Z0 substitution intron GRCh37 7386114 7386114 Chr17(GRCh37):g.7386114A>G 1128 1128 NM_020899.3:c.-81+1209T>C p.? p.? 1 1 612308 1209 5' 69.5462 6.41542 0.439919 7.15159 69.5462 6.41542 0.439919 7.15159 0 rs199996601 yes no Frequency 1 A 0.000000 0 0.000060 0.000000 0.000031 0.000100 0.000000 0.000000 0.000115 0.000000 0.000000 0.000115 16 0 1 1 0 0 14 0 0 267216 23536 32474 10032 17668 30110 121932 25172 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 1 1 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.992 0.528 203 PASS . . . . . . . . . . . ENSG00000259224:ENST00000412468:exon2:c.A811G:p.S271G SLC35G6:uc010cmj.1:exon2:c.A811G:p.S271G SLC35G6:NM_001102614:exon2:c.A811G:p.S271G . . 0.16867469 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.051 . . 83.0 . . . . . . . . . . -0.7480 -0.668 -0.748 c . . . . . 5.501e-03 . . . 0.0028 0.0040 0.0039 0.0029 0.0017 0.0049 0.0043 0.0032 0.0023 0.0035 0.0037 0.0050 0.0019 0.0038 0.0015 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.333 @ . . . 0.21 0.53 182 ENSG00000259224 SLC35G6 SLC35G6 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.643 0.050 . . 37 . 0.343 . . 0.245 . . . 0.440 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.055 . . . . . 0.115 . 0.281 . HET 0.65 rs199996601 . . . . . . . . . . . . 4.559 . ENST00000412468 4.VI II.97 . 0.390000 P0C7Q6 . . . . . 0.291 . . II.97 0 6.34e-05 3.159e-05 0.0001 0 0 0.0001 0 0 0 3.267e-05 0 0 0 0 6.733e-05 0 . . 0.391 . 0.560 0.560000 . . 0.390000 . . 1.0E-203 0.777 0.292 . 0.335 0.989 . 0.278 . 0.209 0.560 0.717 . . . rs199996601 rs199996601 1 1538 10 1/0 0,240,255 +rs200592951 17 7559022 A C - ATP1B2 805 ATPase, Na+/K+ transporting, beta 2 polypeptide NM_001678.4 1 3378 873 NP_001669.3 P14415 substitution intron GRCh37 7559022 7559022 Chr17(GRCh37):g.7559022A>C 709-27 709-27 NM_001678.4:c.709-27A>C p.? p.? 7 6 182331 -27 3' 81.1347 6.62631 0.753843 12.081 81.1347 6.62631 0.753843 12.1703 0 rs200592951 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001419 0.000292 0.001249 0.000691 0.000000 0.000032 0.002474 0.000505 0.001394 0.002474 393 7 43 7 0 1 313 13 9 276894 23992 34414 10134 18862 30772 126518 25744 6458 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 389 7 43 7 0 1 309 13 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8574 4404 12978 26 2 28 0.00302326 0.000453926 0.00215285 0.00302326 0.000453926 0.00215285 56 transversion A C A>C 0.000 -0.279 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.53571427 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 140.0 . . . 0.0005 0.0022 0.003 0.0005 0.0022 0.003 . 0.3793 . . . . . . . . 1.318e-03 . . . 0.0003 0.0014 0.0007 0 0.0003 0.0028 0 0 0.0003 0.0011 0.0007 0 0.0002 0.0020 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.26 0.37 182 ENSG00000129244 ATP1B2 ATP1B2 . . . . . . 121 0.00186223 64976 120 0.00200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200592951 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv457659 0.002153 . . . . . 0.0003 0.0014 0.0012 0.0007 0 0.0005 0.0025 0.0013 3.25e-05 0.0002 0.0013 0.0024 0 0 0.0003 0.0022 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.003 . . rs200592951 rs200592951 1 1538 10 1/0 0,247,255 +rs201995447 17 7943326 G A - ALOX15B 434 Arachidonate 15-lipoxygenase, type B NM_001141.2 1 2716 2031 NP_001132.2 O15296 substitution intron GRCh37 7943326 7943326 Chr17(GRCh37):g.7943326G>A 449+25 449+25 NM_001141.2:c.449+25G>A p.? p.? 3 3 603697 25 5' 69.5686 4.09438 0.273718 3.35498 69.5686 4.09438 0.273718 3.01979 0 rs201995447 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000800 0.001000 0.000000 0.002000 0.002900 0.002363 0.000419 0.000939 0.010331 0.000000 0.002210 0.002996 0.002038 0.001728 0.010331 644 10 32 101 0 67 371 52 11 272514 23838 34080 9776 18802 30318 123818 25518 6364 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 640 10 32 101 0 67 367 52 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4403 12984 19 3 22 0.0022093 0.00068089 0.00169153 0.0022093 0.00068089 0.00169153 29 transition G A G>A 0.008 2.304 255 PASS . 0.0005 0.0028 . . 0.0008 0.0012 0.0029 . 0.002 0.001 . . . . . 0.43333334 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . 0.0007 0.0017 0.0022 0.0007 0.0017 0.0022 . 0.4405 . . . . . . . . 2.376e-03 . . . 0.0007 0.0028 0.0010 0 0.0016 0.0046 0 0.0023 0.0007 0.0023 0.0010 0 0.0020 0.0033 0 0.0023 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.27 0.45 182 ENSG00000179593 ALOX15B ALOX15B . . . . . . 81 0.00124661 64976 75 0.00125029 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201995447 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833352 0.001692 . . . . III.48 0.0003 0.0025 0.0009 0.0102 0 0.0020 0.0031 0.0013 0.0022 0.0006 0.0017 0.0012 0.0132 0 0.0020 0.0021 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs201995447 rs201995447 1 1538 10 1/0 0,255,255 +. 17 7983741 T C - ALOX12B 430 Arachidonate 12-lipoxygenase, 12R type NM_001139.2 -1 2502 2106 NP_001130.1 O75342 substitution intron GRCh37 7983741 7983741 Chr17(GRCh37):g.7983741T>C 651-85 651-85 NM_001139.2:c.651-85A>G p.? p.? 6 5 603741 -85 3' 77.2399 5.26293 0.853123 IV.29 77.2399 5.26293 0.853123 IV.29 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 240592 14732 33178 9716 16984 30624 107852 22120 5386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 62 Exomes transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . ENSG00000214999:ENST00000399413:exon2:c.T422C:p.L141S . . . . 0.59090906 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . INTRON(MODIFIER||||ALOX12B|mRNA|CODING|NM_001139|) . . . . . . . -0.6860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intronic . . . @ . . . . . . ENSG00000214999 BC046191 ALOX12B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VI.64 . ENST00000399413 IV.14 -2.43 . 0.000000 . . . . . . . . . . 0 4.156e-06 0 0 0 0 9.272e-06 0 0 . . . . . . . . . . . . -0.281 -0.281000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -0.281 . . . . . . 1 1538 10 1/0 0,255,255 +. 17 8725214 A AG - PIK3R6 27101 Phosphoinositide-3-kinase regulatory subunit 6 NM_001010855.2 -1 3041 2265 NP_001010855.1 Q5UE93 duplication frameshift exon NG_033091.1 50781 50782 NG_033091.1:g.50781dup 1828 1828 NM_001010855.2:c.1828dup p.Leu610Profs*22 p.Leu610Profs*22 17 611462 40 3' 81.5472 8.64845 0.981878 XI.08 81.5472 8.64845 0.981878 9.77757 0 rs56322041 yes no Frequency/1000G 2 0.000000 0 0.999601 1.000000 1.000000 1.000000 0.998000 1.000000 0.999967 1.000000 0.999968 1.000000 0.999942 1.000000 0.999964 0.999956 0.999829 1.000000 245830 21306 31507 9500 17113 27042 110688 22813 5861 245838 21306 31508 9500 17114 27042 110692 22814 5862 0.999935 1.000000 0.999937 1.000000 0.999883 1.000000 0.999928 0.999912 0.999659 122911 10653 15753 4750 8556 13521 55342 11406 2930 8 0 1 0 1 0 4 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7 7 14 7959 3797 11756 0.000878735 0.00184017 0.00118946 0.999121 0.99816 0.998811 33 C 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . PIK3R6:uc002glq.1:exon18:c.1825dupC:p.L609fs UNKNOWN . . 0.96511626 . . . 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 86 . . . . . . 1. 1. 1. . . . . . . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1 1 1 0.9998 1.0000 1 1 1 1.0000 1 1 . frameshift_insertion unknown . . . splicing exonic exonic . . . . . . . . . . ENSG00000174083 PIK3R6 PIK3R6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397775164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1.0000 1 0.9999 0.9999 1.0000 0.9998 1 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs56322041 rs56322041 1 1538 255 1.I 0,0,255 +rs201000246 17 9546560 T C - CFAP52 16053 Cilia and flagella associated protein 52 NM_145054.4 1 2193 1863 NP_659491.4 Q8N1V2 substitution 3'UTR GRCh37 9546560 9546560 Chr17(GRCh37):g.9546560T>C *45 *45 NM_145054.4:c.*45T>C p.? p.? 14 609804 221 3' 98.1858 XI.05 0.997137 10.1212 98.1858 XI.05 0.997137 10.1212 0 rs201000246 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000467 0.000047 0.000000 0.000000 0.001635 0.000597 0.000568 0.000130 0.000434 0.001635 97 1 0 0 23 9 59 3 2 207592 21314 19578 6106 14064 15070 103856 22994 4610 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 97 1 0 0 23 9 59 3 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 86 transition T C T>C 0.000 -2.216 255 PASS . 0.0005 . 0.0017 . . 0.0002 . 0.001 . . . . . . . 0.4651163 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.4268 . . . . . . . . 4.978e-04 . . . 0 0.0002 0 0.0005 0 0.0002 0 0.0004 0 0.0006 0 0.0010 0.0002 0.0008 0 0.0004 . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0002 . . . 0.42 0.69 182 ENSG00000265349 WDR16 CFAP52 . . . . . . 7 0.000107732 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201000246 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0 0.0005 0 0 0.0014 0.0002 0.0006 0.0006 0.0006 0.0001 0.0004 0 0 0.0037 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs201000246 rs201000246 1 1538 10 1/0 0,255,255 +rs764930248 17 9613333 C T - USP43 20072 Ubiquitin specific peptidase 43 NM_153210.4 1 4165 3372 NP_694942.3 Q70EL4 substitution missense exon GRCh37 9613333 9613333 Chr17(GRCh37):g.9613333C>T 2072 2072 NM_153210.4:c.2072C>T p.Pro691Leu p.Pro691Leu 13 61 3' 75.9035 1.37911 0.000686 0 75.9035 1.37911 0.000686 0 0 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs764930248 yes no Frequency 1 C 0.000000 0 0.000024 0.000000 0.000035 0.000000 0.000000 0.000000 0.000043 0.000000 0.000000 0.000043 6 0 1 0 0 0 5 0 0 249634 21608 28436 9456 15192 26704 117188 25422 5628 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 1.013 P Pro CCG 0.115 L Leu CTG 0.404 691 12 7 Zebrafish -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 138.74 50.17 Tolerated 0.09 II.90 255 PASS . . . . . . . . . . . . . . . . 0.42696628 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.222 . @ . . . . . 1 0.117 . . 89.0 . . . . . . . . . . -0.6952 -0.664 -0.695 c . . . . . 1.598e-05 . . . 0 2.297e-05 8.672e-05 0 0 2.419e-05 0 0 0 1.95e-05 8.941e-05 0 0 1.866e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . 0.371 @ . . . . . . ENSG00000154914 USP43 USP43 . . . 0.001 0.077 . . . . . . . Uncertain_significance . 0 . 0.222 . . . . T 0.199 0.007 . . 37 . 0.227 . . 0.144 . . . 0.299 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.765 . . 0 0 0 0 0 0 . 0.206 . . 0.173 . . . . . . 0 0.164 . . . . . 0.474 . 0.434 . HET 0.06 rs764930248 . . . . . . . . . . . . 11.1279 . ENST00000285199 V.51 III.33 . 0.270000 . . . Name\x3dnsv833358 . . 0.130 . . III.33 0 1.372e-05 3.623e-05 0 0 0 1.957e-05 0 0 0 9.691e-05 0 0 0 0 0.0002 0 . . 0.310 . 1.399 1.399000 . . 0.270000 . . 1.0E-255 0.000 0.063 . 0.124 0.155 . 0.092 . 0.445 1.399 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs74781025 17 9923310 G C - GAS7 4169 Growth arrest-specific 7 NM_201433.1 -1 8211 1431 NP_958839.1 O60861 substitution intron GRCh37 9923310 9923310 Chr17(GRCh37):g.9923310G>C 184-96 184-96 NM_201433.1:c.184-96C>G p.? p.? 2 1 603127 -96 3' 87.5076 X.41 0.989098 9.35703 87.5076 X.41 0.989098 9.35703 0 New Donor Site 9923311 V.05 0.120819 62.5823 rs74781025 yes no Frequency/1000G 2 G 0.000000 0 0.038538 0.000000 0.035800 0.152800 0.000000 0.005800 0.009138 0.001375 0.005967 0.000000 0.151852 0.000000 0.000733 0.000572 0.007128 0.151852 283 12 5 0 246 0 11 2 7 30968 8726 838 302 1620 0 15006 3494 982 0.049470 0.000000 0.000000 0.000000 0.056911 0.000000 0.000000 0.000000 0.000000 14 0 0 0 14 0 0 0 0 255 12 5 0 218 0 11 2 7 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion C G C>G 0.000 0.609 255 PASS . 0.04 0.0028 0.15 . . 0.038 0.0058 0.15 . 0.036 . . . . . 0.4814815 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . 0.0912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . 0.0385 . . . 0.5 0.48 182 ENSG00000007237 GAS7 GAS7 . uc010vvd.1:c.-57C>G . . . . 230 0.00353977 64976 37 0.000616811 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74781025 0.033 0.022 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv38n68 . . . . . . . . . . . . . . . 0.0014 0.0091 0.0060 0 0.1519 0.0006 0.0007 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 . . rs74781025 rs74781025 1 1538 10 1/0 0,255,255 +rs2520178 17 10595388 A G - SCO1 10603 SCO1 cytochrome c oxidase assembly protein NM_004589.3 -1 1754 906 NP_004580.1 O75880 substitution intron GRCh37 10595388 10595388 Chr17(GRCh37):g.10595388A>G 563-107 563-107 NM_004589.3:c.563-107T>C p.? p.? 4 3 603644 -107 3' 81.0469 7.01103 0.8061 4.05121 81.0469 7.01103 0.8061 4.05121 0 rs2520178 yes no Frequency/1000G 2 G 0.000000 0 0.998802 1.000000 0.994900 1.000000 1.000000 0.998600 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30977 8732 838 302 1620 0 15011 3494 980 30978 8732 838 302 1620 0 15012 3494 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15488 4366 419 151 810 0 7505 1747 490 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition T C T>C 0.000 -0.117 111 PASS 0.96 0.99 1. 0.99 1. 1. 1. 1. 1. 1. 0.99 . . . . . 1.0 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||SCO1|mRNA|CODING|NM_004589|) . . . . . . . -0.0408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.22 0.11 182 ENSG00000133028 SCO1 SCO1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2520178 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs2520178 rs2520178 rs2520178 rs2520178 1 1538 255 1.I 0,0,255 +rs111358990 17 12659790 C T - MYOCD 16067 Myocardin NM_001146312.2 1 8565 2961 NP_001139784.1 substitution synonymous exon GRCh37 12659790 12659790 Chr17(GRCh37):g.12659790C>T 2118 2118 NM_001146312.2:c.2118C>T p.His706= p.His706His 11 606127 60 3' 92.9052 12.0417 0.967613 X.97 92.9052 12.0417 0.967613 9.92381 0 rs111358990 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.004100 0.000000 0.007000 0.001400 0.004565 0.000421 0.001129 0.001982 0.000000 0.004469 0.007383 0.006245 0.002625 0.007383 839 7 28 17 0 102 545 127 13 183774 16610 24802 8576 11858 22822 73818 20336 4952 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000108 0.000197 0.000000 6 0 0 0 0 0 4 2 0 827 7 28 17 0 102 537 123 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3168 1382 4550 14 2 16 0.00439975 0.00144509 0.00350416 0.00439975 0.00144509 0.00350416 52 transition C T C>T 0.205 0.448 H His CAC 0.587 H His CAT 0.413 706 255 PASS . 0.0037 0.0028 . 0.01 . 0.0024 0.0014 . 0.007 0.0041 . . MYOCD:NM_001146312:exon11:c.C2118T:p.H706H . . 0.54285717 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . . 0.0014 0.0035 0.0044 0.0014 0.0035 0.0044 . 0.2677 . . . . . . . . 4.254e-03 . . . 0.0008 0.0046 0.0023 0 0.0135 0.0059 0.0051 0.0044 0.0011 0.0043 0 0 0.0069 0.0050 0 0.0044 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.36 0.31 182 . MYOCD MYOCD . . . . . . 350 0.0053866 64976 338 0.00563465 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs111358990 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3desv34095 0.003504 . . . . . 0.0004 0.0043 0.0011 0.0021 0 0.0057 0.0067 0.0020 0.0045 0.0005 0.0061 0.0012 0 0 0.0087 0.0100 0.0052 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs111358990 rs111358990 1 1538 10 1/0 0,255,255 +rs111687632 17 12855909 A G - ARHGAP44 29096 Rho GTPase activating protein 44 NM_014859.5 1 4257 2457 NP_055674.4 Q17R89 substitution intron GRCh37 12855909 12855909 Chr17(GRCh37):g.12855909A>G 1136+11 1136+11 NM_014859.5:c.1136+11A>G p.? p.? 13 13 617716 11 5' 91.0858 X.17 0.993675 6.47257 91.0858 X.17 0.993675 7.01399 0 rs111687632 yes no Frequency/1000G 2 A 0.000000 0 0.004593 0.000000 0.003100 0.000000 0.009900 0.014400 0.009024 0.001892 0.024769 0.001148 0.000157 0.004414 0.009622 0.007154 0.008911 0.024769 1733 33 633 10 2 102 766 142 45 192034 17442 25556 8708 12718 23106 79606 19848 5050 0.000229 0.000000 0.001096 0.000000 0.000000 0.000087 0.000126 0.000000 0.000792 22 0 14 0 0 1 5 0 2 1689 33 605 10 2 100 756 142 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8138 3763 11901 68 11 79 0.00828662 0.00291468 0.00659432 0.00828662 0.00291468 0.00659432 48 transition A G A>G 0.000 -2.619 255 PASS . 0.01 0.02 . 0.01 . 0.0046 0.014 . 0.0099 0.0031 . . . . . 0.3846154 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||ARHGAP44|mRNA|CODING|NM_014859|) 0.0029 0.0066 0.0083 0.0029 0.0066 0.0083 . -0.4682 . . . . . . . . 5.316e-03 . . . 0.0031 0.0091 0.0518 0 0.0482 0.0114 0.0142 0.0044 0.0036 0.0085 0.0581 0 0.0119 0.0103 0.0153 0.0044 . . . . . . intronic intronic intronic . . . 0.0046 . . . 0.26 0.36 182 ENSG00000006740 ARHGAP44 ARHGAP44 . . . . . . 407 0.00626385 64976 384 0.00640149 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111687632 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833372 0.006594 . . . . . 0.0011 0.0091 0.0248 0.0012 0.0002 0.0071 0.0088 0.0088 0.0044 0.0026 0.0089 0.0227 0 0 0.0074 0.0132 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs111687632 rs111687632 1 1538 10 1/0 0,255,255 +rs141406384 17 13927814 A T - CDRT15P1 33168 CMT1A duplicated region transcript 15 pseudogene 1 NR_003261.1 1 1101 0 substitution upstream GRCh37 13927814 13927814 Chr17(GRCh37):g.13927814A>T -1 -1 NR_003261.1:n.-1A>T p.? p.? 1 rs141406384 yes no Frequency/1000G 2 0.000000 0 0.000556 0.000521 0.000000 0.000000 0.000921 0.000000 0.000300 0.001326 0.002353 0.001326 15 4 0 0 1 0 4 4 2 26988 7682 780 260 1086 0 13314 3016 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 4 0 0 1 0 4 4 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion A T A>T 0.020 0.044 237 PASS 0.08 0.1 0.07 0.13 0.1 . . . . . . . . . . . 0.2777778 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 18.0 . . . . . . . . . . -0.3866 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream upstream . . . @ . . . 0.47 0.09 182 ENSG00000236088 CDRT15P1 CDRT15P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141406384 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0 0 0.0009 0.0013 0.0003 0.0024 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.13 . . rs141406384 rs141406384 1 1538 10 1/0 0,255,255 +rs62052315 17 13928134 C A - CDRT15P1 33168 CMT1A duplicated region transcript 15 pseudogene 1 NR_003261.1 1 1101 0 substitution exon GRCh37 13928134 13928134 Chr17(GRCh37):g.13928134C>A 320 320 NR_003261.1:n.320C>A 1 rs62052315 yes no Frequency 1 0.000000 0 0.007138 0.017246 0.009409 0.000000 0.017979 0.000000 0.002414 0.001233 0.003597 0.017979 186 120 7 0 21 0 31 4 3 26058 6958 744 266 1168 0 12844 3244 834 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 120 7 0 21 0 31 4 3 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion C A C>A 0.000 -0.844 208 PASS . . . . . . . . . . . . . . . . 0.17948718 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 156.0 . . . . . . . . . . -0.6478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.05 0.06 182 . CDRT15P1 CDRT15P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62052315 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0172 0.0071 0.0094 0 0.0180 0.0012 0.0024 0.0036 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.022 rs62052315 rs62052315 rs62052315 rs199505478 1 1538 10 1/0 0,214,255 +rs879420889 17 13928790 G C - CDRT15P1 33168 CMT1A duplicated region transcript 15 pseudogene 1 NR_003261.1 1 1101 0 substitution exon GRCh37 13928790 13928790 Chr17(GRCh37):g.13928790G>C 976 976 NR_003261.1:n.976G>C 1 rs879420889 no no 0 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.000000 0.000000 0.000500 0.003049 0.000000 0.003049 10 0 0 0 0 0 4 6 0 16700 4726 544 144 824 0 7998 1968 496 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 4 6 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transversion G C G>C 0.059 0.286 216 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . . . . . . . . . -0.3183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.24 0.11 182 ENSG00000141028 CDRT15P1 CDRT15P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0.0030 0.0005 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs62052128 rs62052128 rs62052128 rs62052128 1 1538 10 1/0 0,255,255 +rs746945941 17 15522426 G A - CDRT1 14379 CMT1A duplicated region transcript 1 NM_006382.3 -1 2763 2259 NP_006373.2 O95170 substitution missense exon GRCh37 15522426 15522426 Chr17(GRCh37):g.15522426G>A 401 401 NM_006382.3:c.401C>T p.Ala134Val p.Ala134Val 1 604596 -105 5' 82.0699 7.82294 0.983155 6.92788 82.0699 7.82294 0.983155 6.92788 0 Cryptic Donor Strongly Activated 15522428 75.6263 6.37814 0.760556 83.1794 rs746945941 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000060 0.000000 0.000000 0.000032 0.000009 0.000000 0.000000 0.000060 4 0 2 0 0 1 1 0 0 245942 15292 33582 9850 17248 30782 111408 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 68 Exomes transition C T C>T 0.961 2.142 A Ala GCG 0.107 V Val GTG 0.468 134 12 7 Frog 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0.02 II.94 255 PASS . . . . . . . . . . . ENSG00000241322:ENST00000395906:exon1:c.C401T:p.A134V CDRT1:uc002gov.4:exon1:c.C401T:p.A134V . . . 0.4011976 . . @ 67 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.951 . . 167.0 . . . . . . . . . . 0.4029 0.311 0.403 c . . . . . 7.893e-06 . . . 0 1.106e-05 0 0 0 2.379e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.227 . . exonic exonic exonic . . 0.423 @ . . . . . . ENSG00000241322 CDRT1 CDRT1 . . . 0.004 0.103 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.269 0.010 . . 37 . 0.441 . . 0.324 . . . 0.440 0.333 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.899 . . 0.782 . . . . . . 0 0.443 . . . . . 0.569 . 0.414 . HET 0.03 rs746945941 . . . . . . . . . . . . XII.34 . . IV.77 III.77 . 0.090000 O95170 . . Name\x3dnsv457695 . . 0.387 . . III.77 0 1.626e-05 5.956e-05 0 0 0 8.976e-06 0 3.249e-05 . . . . . . . . . . 0.133 . 2.363 2.363000 . . 0.090000 . . 1.0E-255 0.998 0.411 . 0.507 0.726 . 0.506 . 0.602 2.363 0.069 . . . . . 1 1538 10 1/0 0,230,255 +rs113830160 17 15641449 A G - TBC1D26 28745 TBC1 domain family, member 26 NM_178571.4 1 1869 753 NP_848666.2 Q86UD7 substitution intron GRCh37 15641449 15641449 Chr17(GRCh37):g.15641449A>G 279+58 279+58 NM_178571.4:c.279+58A>G p.? p.? 6 6 58 5' 81.6684 8.92197 0.871676 5.97771 81.6684 8.92197 0.871676 V.67 0 rs113830160 no no 0 G 0.000000 0 0.004001 0.004752 0.013393 0.000000 0.017958 0.000000 0.002392 0.001982 0.006083 0.017958 103 33 9 0 19 0 31 6 5 25744 6944 672 260 1058 0 12960 3028 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 33 9 0 19 0 31 6 5 0 0 0 0 0 0 0 0 0 RF 55 Genomes transition A G A>G 0.000 -2.216 184 PASS . . . . . . . . . . . . . . . . 0.12162162 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||TBC1D26|mRNA|CODING|NM_178571|) . . . . . . . -0.7328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.71 182 ENSG00000233002 TBC1D26 TBC1D26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs113830160 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0040 0.0134 0 0.0180 0.0020 0.0024 0.0061 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.043 . . rs113830160 rs113830160 1 1538 10 1/0 0,211,255 +. 17 15641457 T C - TBC1D26 28745 TBC1 domain family, member 26 NM_178571.4 1 1869 753 NP_848666.2 Q86UD7 substitution intron GRCh37 15641457 15641457 Chr17(GRCh37):g.15641457T>C 279+66 279+66 NM_178571.4:c.279+66T>C p.? p.? 6 6 66 5' 81.6684 8.92197 0.871676 5.97771 81.6684 8.92197 0.871676 6.30426 0 rs999495817 no no 0 T 0.000000 0 0.006069 0.006860 0.019118 0.000000 0.027833 0.000000 0.003965 0.003014 0.007407 0.027833 152 46 13 0 28 0 50 9 6 25046 6706 680 248 1006 0 12610 2986 810 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 152 46 13 0 28 0 50 9 6 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition T C T>C 0.000 -1.086 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . INTRON(MODIFIER||||TBC1D26|mRNA|CODING|NM_178571|) . . . . . . . -0.4823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000233002 TBC1D26 TBC1D26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0069 0.0061 0.0191 0 0.0278 0.0030 0.0040 0.0074 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +. 17 15641459 G T - TBC1D26 28745 TBC1 domain family, member 26 NM_178571.4 1 1869 753 NP_848666.2 Q86UD7 substitution intron GRCh37 15641459 15641459 Chr17(GRCh37):g.15641459G>T 279+68 279+68 NM_178571.4:c.279+68G>T p.? p.? 6 6 68 5' 81.6684 8.92197 0.871676 5.97771 81.6684 8.92197 0.871676 5.86566 0 rs1035975249 no no 0 G 0.000000 0 0.006237 0.007465 0.020468 0.000000 0.026217 0.000000 0.004007 0.002978 0.007246 0.026217 161 52 14 0 28 0 52 9 6 25812 6966 684 266 1068 0 12978 3022 828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 161 52 14 0 28 0 52 9 6 0 0 0 0 0 0 0 0 0 RF 55 Genomes transversion G T G>T 0.000 0.448 181 PASS . . . . . . . . . . . . . . . . 0.11486486 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||TBC1D26|mRNA|CODING|NM_178571|) . . . . . . . -0.1371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000233002 TBC1D26 TBC1D26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0075 0.0062 0.0205 0 0.0262 0.0030 0.0040 0.0072 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +rs112677849 17 15641462 A G - TBC1D26 28745 TBC1 domain family, member 26 NM_178571.4 1 1869 753 NP_848666.2 Q86UD7 substitution intron GRCh37 15641462 15641462 Chr17(GRCh37):g.15641462A>G 279+71 279+71 NM_178571.4:c.279+71A>G p.? p.? 6 6 71 5' 81.6684 8.92197 0.871676 5.97771 81.6684 8.92197 0.871676 6.32343 0 rs112677849 no no 0 A 0.000000 0 0.007328 0.009292 0.022124 0.000000 0.030273 0.000000 0.004684 0.003365 0.007481 0.030273 184 63 15 0 31 0 59 10 6 25108 6780 678 256 1024 0 12596 2972 802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 184 63 15 0 31 0 59 10 6 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition A G A>G 0.000 -0.763 172 PASS . . . . . . . . . . . . . . . . 0.12837838 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||TBC1D26|mRNA|CODING|NM_178571|) . . . . . . . -0.3616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.4 0.64 182 ENSG00000233002 TBC1D26 TBC1D26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112677849 0.065 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0093 0.0073 0.0221 0 0.0303 0.0034 0.0047 0.0075 . . . . . . . . . . . 1.0E-172 . . . . . . . . . . . 0.065 . . rs112677849 rs112677849 1 1538 10 1/0 0,212,255 +rs200311165 17 16068464 G A - NCOR1 7672 Nuclear receptor corepressor 1 NM_006311.3 -1 9794 7323 NP_006302.2 O75376 substitution synonymous exon GRCh37 16068464 16068464 Chr17(GRCh37):g.16068464G>A 447 447 NM_006311.3:c.447C>T p.Phe149= p.Phe149Phe 5 600849 12 3' 86.5451 7.01513 0.91886 7.01302 86.5451 7.01513 0.90545 6.72855 -0.00486472 rs200311165 yes no Frequency 1 G 0.000000 0 0.000550 0.000800 0.000715 0.000507 0.001204 0.000571 0.000385 0.000398 0.000835 0.001204 144 18 22 5 21 16 47 10 5 261630 22504 30778 9862 17448 28018 121930 25102 5988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144 18 22 5 21 16 47 10 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4129611|COSM4129611|COSM4129611 Upper aerodigestive tract|Thyroid|Large intestine 0.000733|0.001339|0.000444 1364|747|2251 transition C T C>T 1.000 1.013 F Phe TTC 0.546 F Phe TTT 0.454 149 237 PASS . . . . . . . . . . . . . . . . 0.27027026 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . I.07 . . . . . . . . 3.157e-05 . . . 9.773e-05 4.427e-05 0 0.0002 0 4.773e-05 0 0 0 1.89e-05 0 0.0001 0 1.848e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.65 0.46 182 ENSG00000141027 NCOR1 NCOR1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200311165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.96 0.0003 0.0003 0.0006 0.0004 0.0006 4.523e-05 0.0001 0.0008 0.0006 0.0017 0.0026 0.0041 0.0034 0.0098 0.0030 0.0023 0.0012 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . rs1998943 rs1998943 rs1998943 rs1998943 1 1538 10 1/0 0,255,255 +rs748446677 17 16346857 A T - LRRC75A 32403 Leucine rich repeat containing 75A NM_001113567.2 -1 2819 1035 NP_001107039.1 Q8NAA5 substitution 3'UTR GRCh37 16346857 16346857 Chr17(GRCh37):g.16346857A>T *45 *45 NM_001113567.2:c.*45T>A p.? p.? 4 589 3' 90.2297 X.85 0.987759 XII.05 90.2297 X.85 0.987759 XII.05 0 rs748446677 yes no Frequency 1 A 0.000000 0 0.000109 0.000067 0.000000 0.000000 0.000000 0.000000 0.000244 0.000000 0.000000 0.000244 13 1 0 0 0 0 12 0 0 119166 15014 16040 3114 10398 10834 49140 11424 3202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 0 0 0 0 12 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 30.0 . . . . . . . . . . 0.3808 . . . . . . . . 3.298e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic UTR3 ncRNA_intronic . . . @ . . . . . . ENSG00000175061 FAM211A LRRC75A-AS1 . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748446677 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2715702 . . . . . . 0.0002 0.0001 0 0 0 0 0.0003 0 0 0 6.459e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs748446677 17 16346857 A T - LRRC75A-AS1 28619 LRRC75A antisense RNA 1 NR_027162.1 1 1391 0 substitution downstream GRCh37 16346857 16346857 Chr17(GRCh37):g.16346857A>T *1515 *1515 NR_027162.1:n.*1515A>T p.? p.? 5 2176 3' 0 4.21841 0.96183 1.79634 0 4.21841 0.96183 1.79634 0 Cryptic Acceptor Strongly Activated 16346872 4.43124 0.00127 72.4078 5.69521 0.00295 72.4078 rs748446677 yes no Frequency 1 A 0.000000 0 0.000109 0.000067 0.000000 0.000000 0.000000 0.000000 0.000244 0.000000 0.000000 0.000244 13 1 0 0 0 0 12 0 0 119166 15014 16040 3114 10398 10834 49140 11424 3202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 0 0 0 0 12 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 30.0 . . . . . . . . . . 0.3808 . . . . . . . . 3.298e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic UTR3 ncRNA_intronic . . . @ . . . . . . ENSG00000175061 FAM211A LRRC75A-AS1 . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748446677 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2715702 . . . . . . 0.0002 0.0001 0 0 0 0 0.0003 0 0 0 6.459e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879191911 17 16624049 T C - CCDC144A 29072 Coiled-coil domain containing 144A NM_014695.2 1 5830 4284 NP_055510.1 A2RUR9 substitution intron GRCh37 16624049 16624049 Chr17(GRCh37):g.16624049T>C 1891+77 1891+77 NM_014695.2:c.1891+77T>C p.? p.? 8 8 77 5' 84.2838 9.45172 0.966865 0 84.2838 9.45172 0.966865 0 0 rs879191911 no no 0 T 0.000000 0 0.000200 0.000239 0.000000 0.000000 0.000000 0.000000 0.000205 0.000294 0.000000 0.000294 6 2 0 0 0 0 3 1 0 30004 8364 816 294 1502 0 14654 3406 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition T C T>C 0.024 1.174 224 PASS . . . . . . . . . . . . . . . . 0.22916667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . 0.0673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.4 0.33 182 . USP32P1 CCDC144A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.II . . . . . . . . . 0.0002 0.0002 0 0 0 0.0003 0.0002 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs2649257 rs2649257 rs2649257 rs2649257 1 1538 10 1.I 0,0,0 +rs150874158 17 17715911 G T - MIR33B 32791 MicroRNA 33b NR_030361.1 -1 96 0 substitution downstream GRCh37 17715911 17715911 Chr17(GRCh37):g.17715911G>T *1239 *1239 NR_030361.1:n.*1239C>A p.? p.? 1 613486 rs150874158 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.003439 0.000897 0.001076 0.000110 0.000000 0.001474 0.003589 0.015318 0.003532 0.015318 740 17 32 1 0 38 327 306 19 215208 18956 29750 9072 15176 25786 91112 19976 5380 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000300 0.000000 3 0 0 0 0 0 0 3 0 734 17 32 1 0 38 327 300 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4369 12900 17 1 18 0.00198877 0.000228833 0.0013934 0.00198877 0.000228833 0.0013934 38 transversion C A C>A 0.213 1.497 255 PASS . 0.0032 0.01 . 0.01 . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5925926 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . I.38 . . . . . . . . 2.433e-03 . . . 0.0012 0.0035 0.0026 0 0.0304 0.0050 0.0037 0.0021 0.0010 0.0047 0.0023 0 0.0321 0.0076 0.0051 0.0021 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.51 0.42 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . 252 0.00387836 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150874158 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.001393 . . . . II.15 0.0008 0.0032 0.0010 0.0001 0 0.0148 0.0034 0.0032 0.0015 0.0010 0.0048 0.0024 0 0 0.0177 0.0047 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150874158 rs150874158 1 1538 10 1/0 0,255,255 +rs150874158 17 17715911 G T - MIR6777 50173 MicroRNA 6777 NR_106835.1 -1 66 0 substitution downstream GRCh37 17715911 17715911 Chr17(GRCh37):g.17715911G>T *883 *883 NR_106835.1:n.*883C>A p.? p.? 1 rs150874158 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.003439 0.000897 0.001076 0.000110 0.000000 0.001474 0.003589 0.015318 0.003532 0.015318 740 17 32 1 0 38 327 306 19 215208 18956 29750 9072 15176 25786 91112 19976 5380 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000300 0.000000 3 0 0 0 0 0 0 3 0 734 17 32 1 0 38 327 300 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4369 12900 17 1 18 0.00198877 0.000228833 0.0013934 0.00198877 0.000228833 0.0013934 38 transversion C A C>A 0.213 1.497 255 PASS . 0.0032 0.01 . 0.01 . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5925926 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . I.38 . . . . . . . . 2.433e-03 . . . 0.0012 0.0035 0.0026 0 0.0304 0.0050 0.0037 0.0021 0.0010 0.0047 0.0023 0 0.0321 0.0076 0.0051 0.0021 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.51 0.42 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . 252 0.00387836 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150874158 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.001393 . . . . II.15 0.0008 0.0032 0.0010 0.0001 0 0.0148 0.0034 0.0032 0.0015 0.0010 0.0048 0.0024 0 0 0.0177 0.0047 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150874158 rs150874158 1 1538 10 1/0 0,255,255 +rs150874158 17 17715911 G T - RAI1 9834 Retinoic acid induced 1 NM_030665.3 1 7662 5721 NP_109590.3 Q7Z5J4 substitution downstream GRCh37 17715911 17715911 Chr17(GRCh37):g.17715911G>T *2616 *2616 NM_030665.3:c.*2616G>T p.? p.? 6 607642 2628 3' 82.9046 7.71907 0.467181 2.53449 82.9046 7.71907 0.467181 2.53449 0 New Donor Site 17715909 6.46173 0.734581 79.6854 rs150874158 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.003439 0.000897 0.001076 0.000110 0.000000 0.001474 0.003589 0.015318 0.003532 0.015318 740 17 32 1 0 38 327 306 19 215208 18956 29750 9072 15176 25786 91112 19976 5380 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000300 0.000000 3 0 0 0 0 0 0 3 0 734 17 32 1 0 38 327 300 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4369 12900 17 1 18 0.00198877 0.000228833 0.0013934 0.00198877 0.000228833 0.0013934 38 transversion G T G>T 0.213 1.497 255 PASS . 0.0032 0.01 . 0.01 . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5925926 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . I.38 . . . . . . . . 2.433e-03 . . . 0.0012 0.0035 0.0026 0 0.0304 0.0050 0.0037 0.0021 0.0010 0.0047 0.0023 0 0.0321 0.0076 0.0051 0.0021 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.51 0.42 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . 252 0.00387836 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150874158 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.001393 . . . . II.15 0.0008 0.0032 0.0010 0.0001 0 0.0148 0.0034 0.0032 0.0015 0.0010 0.0048 0.0024 0 0 0.0177 0.0047 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150874158 rs150874158 1 1538 10 1/0 0,255,255 +rs150874158 17 17715911 G T - SREBF1 11289 Sterol regulatory element binding transcription factor 1 NM_001005291.2 -1 5001 3534 NP_001005291.1 substitution 3'UTR GRCh37 17715911 17715911 Chr17(GRCh37):g.17715911G>T *25 *25 NM_001005291.2:c.*25C>A p.? p.? 20 184756 255 3' 79.8245 7.82354 0.262657 9.63157 79.8245 7.82354 0.262657 9.63157 0 rs150874158 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.003439 0.000897 0.001076 0.000110 0.000000 0.001474 0.003589 0.015318 0.003532 0.015318 740 17 32 1 0 38 327 306 19 215208 18956 29750 9072 15176 25786 91112 19976 5380 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000300 0.000000 3 0 0 0 0 0 0 3 0 734 17 32 1 0 38 327 300 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4369 12900 17 1 18 0.00198877 0.000228833 0.0013934 0.00198877 0.000228833 0.0013934 38 transversion C A C>A 0.213 1.497 255 PASS . 0.0032 0.01 . 0.01 . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5925926 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . I.38 . . . . . . . . 2.433e-03 . . . 0.0012 0.0035 0.0026 0 0.0304 0.0050 0.0037 0.0021 0.0010 0.0047 0.0023 0 0.0321 0.0076 0.0051 0.0021 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.51 0.42 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . 252 0.00387836 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150874158 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.001393 . . . . II.15 0.0008 0.0032 0.0010 0.0001 0 0.0148 0.0034 0.0032 0.0015 0.0010 0.0048 0.0024 0 0 0.0177 0.0047 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150874158 rs150874158 1 1538 10 1/0 0,255,255 +rs7501788 17 17719503 G T - SREBF1 11289 Sterol regulatory element binding transcription factor 1 NM_001005291.2 -1 5001 3534 NP_001005291.1 substitution intron GRCh37 17719503 17719503 Chr17(GRCh37):g.17719503G>T 2304+18 2304+18 NM_001005291.2:c.2304+18C>A p.? p.? 12 12 184756 18 5' 74.2807 8.34018 0.922903 11.0773 74.2807 8.34018 0.922903 10.942 0 rs7501788 yes no Frequency/1000G 2 G 0.000000 0 0.573882 0.559000 0.550100 0.593300 0.587500 0.587900 transversion C A C>A 0.000 -1.328 255 PASS . . . . . 0.56 0.57 0.59 0.59 0.59 0.55 . . . . . 0.8888889 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 9.0 . . . . . . . . . . 0.0368 . . . . . . . . 8.060e-03 . . . 0 0.0286 0 . . 0.0333 0 0.0312 0 0.0854 0 0 . 0.1429 0 0.0312 . . . . . . intronic intronic intronic . . . 0.4261 . . . 0.37 0.06 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs7501788 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs7501788 rs7501788 rs7501788 rs7501788 1 1538 10 1/0 0,255,255 +rs775239369 17 17722635 G A - SREBF1 11289 Sterol regulatory element binding transcription factor 1 NM_001005291.2 -1 5001 3534 NP_001005291.1 substitution missense exon GRCh37 17722635 17722635 Chr17(GRCh37):g.17722635G>A 935 935 NM_001005291.2:c.935C>T p.Pro312Leu p.Pro312Leu 5 184756 -2 5' 76.6428 7.84954 0.534686 6.60469 77.0459 6.28946 0.251094 5.41452 -0.241292 rs775239369 yes no Frequency 1 G 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000033 0.000018 0.000000 0.000000 0.000033 3 0 0 0 0 1 2 0 0 243900 15214 33548 9792 17238 30768 109950 21940 5450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes transition C T C>T 1.000 1.900 P Pro CCG 0.115 L Leu CTG 0.404 312 12 4 Frog -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 134.70 55.05 Tolerated 0.21 II.95 good 6.261E-1 0.6075 255 PASS . . . . . . . . . . . . . . . . 0.43661973 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.338 . @ . . . . . 1 0.139 . . 142.0 . . . . . . . . . . -0.1862 -0.113 -0.186 c . . . . . 2.368e-05 . . . 0 2.224e-05 0 0 0 2.4e-05 0 6.078e-05 0 1.885e-05 0 0 0 1.84e-05 0 6.112e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.670 . . exonic exonic exonic . . 0.408 @ . . . . . . ENSG00000072310 SREBF1 SREBF1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.805 0.124 . . 37 . 0.657 . . 0.640 . . . 0.203 0.487 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.805 . . 0 0 0 0 0 0 . 0.378 . . 0.279 . . . . . . 0 0.512 . . . . . 0.421 . 0.261 . HET 0.26 rs775239369 . . . . . . . . . . . . X.19 . . IV.74 III.65 . 0.070000 . 0.0008 0.178 . . . 0.504 . . III.65 0 1.23e-05 0 0 0 0 1.819e-05 0 3.25e-05 . . . . . . . . . . 0.854 . 0.669 0.669000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.374 0.140 . 0.504 . 0.180 0.669 0.038 . . . . . 1 1538 10 1/0 0,242,255 +. 17 18047672 C CC - MYO15A 7594 Myosin XVA NM_016239.3 1 11863 10593 NP_057323.3 Q9UKN7 duplication intron GRCh37 18047673 18047674 Chr17(GRCh37):g.18047673dup 6178-138 6178-138 NM_016239.3:c.6178-138dup p.? p.? 29 28 602666 -137 3' 74.133 9.32103 0.859867 X.55 74.133 9.32103 0.859867 X.55 0 Cryptic Acceptor Strongly Activated 18047672 2.58143 0.001158 72.3797 3.45496 0.013428 72.3797 rs11421905 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999935 1.000000 1.000000 1.000000 0.998762 0.000000 1.000000 1.000000 1.000000 1.000000 30918 8726 838 302 1614 0 14970 3490 978 30920 8726 838 302 1616 0 14970 3490 978 0.499968 0.500000 0.500000 0.500000 0.499380 0.000000 0.500000 0.500000 0.500000 15458 4363 419 151 806 0 7485 1745 489 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.92 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25 . . INTRON(MODIFIER||||MYO15A|mRNA|CODING|NM_016239|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000091536 MYO15A MYO15A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67891868 . . 1 1538 10 1.I 0,3,4 +rs202127880 17 18167400 G A - MIEF2 17920 Mitochondrial elongation factor 2 NM_148886.1 1 2441 1398 NP_683684.2 substitution synonymous exon GRCh37 18167400 18167400 Chr17(GRCh37):g.18167400G>A 720 720 NM_148886.1:c.720G>A p.Gln240= p.Gln240Gln 4 615498 377 3' 85.0021 X.84 0.956693 6.52959 85.0021 X.84 0.956693 6.52959 0 rs202127880 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.003100 0.000000 0.008000 0.002900 0.005181 0.000892 0.001587 0.001408 0.000144 0.006009 0.006502 0.017569 0.006045 0.017569 1014 16 43 12 2 153 563 194 31 195720 17944 27102 8520 13932 25460 86592 11042 5128 0.000082 0.000111 0.000000 0.000000 0.000000 0.000236 0.000046 0.000362 0.000000 8 1 0 0 0 3 2 2 0 998 14 43 12 2 147 559 190 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8403 4287 12690 33 3 36 0.00391181 0.000699301 0.00282885 0.00391181 0.000699301 0.00282885 8 transition G A G>A 0.992 0.125 Q Gln CAG 0.744 Q Gln CAA 0.256 240 255 PASS 0.0041 0.0041 0.01 . 0.01 . 0.0026 0.0029 . 0.008 0.0031 ENSG00000177427:ENST00000395704:exon4:c.G613A:p.A205T SMCR7:uc002gsu.3:exon4:c.G613A:p.A205T MIEF2:NM_001144900:exon4:c.G613A:p.A205T . . 0.43243244 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.129 . . 74.0 . . . 0.0007 0.0028 0.0039 0.0007 0.0028 0.0039 . -0.4681 -0.384 -0.468 c . . . . . 4.394e-03 . . . 0.0012 0.0077 0.0042 0 0.0227 0.0087 0.0194 0.0093 0.0015 0.0084 0.0034 0 0.0245 0.0090 0.0287 0.0095 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.360 . . exonic exonic exonic . . 0.372 0.0026 . . . 0.22 0.24 182 ENSG00000177427 SMCR7 MIEF2 . . . 0.983 0.305 . 414 0.00637158 64976 400 0.00666822 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.185 . . 0.174 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.247 . . 0.208 . . . . . . 0 0.912 . . . . . 0.032 . . . HET 0 rs202127880 . 0.014 . . . . . 0.004120879120879121 0.0040650406504065045 0.0055248618784530384 0.0 0.006596306068601583 I.33 8.3E-4 ENST00000395704 V.32 III.34 . 0.000000 Q96C03-2 . . . 0.002829 . 0.389 . . III.34 0.0010 0.0047 0.0016 0.0015 0.0002 0.0169 0.0057 0.0048 0.0060 0.0008 0.0077 0.0024 0 0 0.0189 0.0101 0.0112 . . 0.450 . 0.633 0.633000 . . 0.000000 . . 1.0E-255 0.998 0.411 . 0.436 0.883 . 0.274 . 0.594 0.633 0.917 0.01 . . rs202127880 rs202127880 1 1538 10 1/0 0,255,255 +rs564721386 17 18325729 C T - KRT17P5 50723 Keratin 17 pseudogene 5 NR_001443.1 1 3153 0 substitution exon GRCh37 18325729 18325729 Chr17(GRCh37):g.18325729C>T 235 235 NR_001443.1:n.235C>T 1 rs564721386 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.002300 0.001000 0.000000 0.000000 0.000000 0.000430 0.002871 0.000170 0.000000 0.000000 0.000103 0.000024 0.000000 0.000329 0.002871 45 39 3 0 0 1 1 0 1 104568 13586 17622 3204 10114 9674 42092 5236 3040 0.000019 0.000147 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 43 37 3 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.198 196 PASS . . . . . 0.0023 0.0008 . . . 0.001 . LOC339240:uc002gtv.3:exon1:c.C147T:p.T49T . . . 0.15068494 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R79W|KRT17P5|Non-coding_transcript|NON_CODING|NR_001443|NR_001443.ex.1) . . . . . . . -0.5186 . . . . . . . . 7.806e-05 . . . 0.0135 0.0024 0 0 . 0 0 0 . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0008 . . . 0.49 0.22 182 ENSG00000205266 LOC339240 KRT17P5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs564721386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0003 0.0002 0 0 0 3.575e-05 0.0005 0.0001 0.0024 0.0007 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs7221579 rs7221579 rs7221579 rs7221579 1 1538 10 1/0 0,244,255 +. (chr17:18335183 GC/G) 17 18335183 GC G Not on a known gene +. 17 18396219 C CA - LGALS9C 33874 Lectin, galactoside-binding, soluble, 9C NM_001040078.2 1 1719 1071 NP_001035167.2 Q6DKI2 insertion intron GRCh37 18396219 18396220 Chr17(GRCh37):g.18396219_18396220insA 924+46 924+47 NM_001040078.2:c.924+46_924+47insA p.? p.? 10 10 46 5' 81.9389 X.11 0.995331 9.06988 81.9389 X.11 0.995331 9.97053 0 New Acceptor Site 18396221 3.21709 0.130108 75.5774 A 255 Pass . . . . . . . . . . . . . . . . 0.41618496 . . . 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . INTRON(MODIFIER||||LGALS9C|mRNA|CODING|NM_001040078|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000171916 LGALS9C LGALS9C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,38 +rs199985037 17 18454769 C T - CCDC144B 26704 Coiled-coil domain containing 144B (pseudogene) NR_036647.1 -1 8696 0 substitution intron GRCh37 18454769 18454769 Chr17(GRCh37):g.18454769C>T 4265+51 4265+51 NR_036647.1:n.4265+51G>A p.? p.? 15 15 51 5' 84.0391 5.60955 0.606711 0 84.0391 5.60955 0.606711 0 0 Cryptic Donor Strongly Activated 18454772 0.478633 0.003786 64.3379 3.95337 0.067761 68.7003 rs199985037 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24464 7814 710 224 1600 0 10830 2542 744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 31 Genomes transition G A G>A 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 13.0 . . INTRON(MODIFIER||||CCDC144B|Non-coding_transcript|NON_CODING|NR_036647|) . . . . . . . -0.1963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.18 0.17 182 . . CCDC144B . dist\x3d9535\x3bdist\x3d51833 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199985037 0.087 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs4003809 rs4003809 rs4003809 rs199985037 1 1538 10 1/0 0,255,255 +. 17 18541852 A AGATGGTG - TBC1D28 26858 TBC1 domain family, member 28 NM_001039397.2 -1 1978 633 NP_001034486.2 Q2M2D7 insertion intron GRCh37 18541852 18541853 Chr17(GRCh37):g.18541852_18541853insGATGGTG 279+81 279+82 NM_001039397.2:c.279+81_279+82insCACCATC p.? p.? 7 7 81 5' 81.6684 8.92197 0.871676 7.35023 81.6684 8.92197 0.871676 7.18364 0 Cryptic Acceptor Strongly Activated 18541842 3.54273 0.014186 73.6093 3.77498 0.309236 78.8965 CACCATC 255 Pass . . . . . . . . . . . . . . . . 0.28723404 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 94 . . INTRON(MODIFIER||||TBC1D28|mRNA|CODING|NM_001039397|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000189375 TBC1D28 TBC1D28 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,54 +. 17 18541853 CCCACC C - TBC1D28 26858 TBC1 domain family, member 28 NM_001039397.2 -1 1978 633 NP_001034486.2 Q2M2D7 deletion intron GRCh37 18541853 18541857 Chr17(GRCh37):g.18541853_18541857del 279+77 279+81 NM_001039397.2:c.279+77_279+81del p.? p.? 7 7 77 5' 81.6684 8.92197 0.871676 7.35023 81.6684 8.92197 0.871676 7.30757 0 Cryptic Acceptor Strongly Activated 18541842 3.54273 0.014186 73.6093 5.90629 0.609687 76.433 rs796418289 no no 0 0.000000 0 0.583506 0.693782 0.657248 0.350746 0.939451 0.000000 0.485898 0.559689 0.550538 0.939451 17483 5936 535 94 1505 0 6960 1941 512 29962 8556 814 268 1602 0 14324 3468 930 0.310530 0.349899 0.338318 0.180851 0.469103 0.000000 0.251724 0.283874 0.283203 5429 2077 181 17 706 0 1752 551 145 6625 1782 173 60 93 0 3456 839 222 0 0 0 0 0 0 0 0 0 PASS 39 Genomes GTGGG 255 Pass . . . . . . . . . . . . . . . . 0.28421053 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 95 . . INTRON(MODIFIER||||TBC1D28|mRNA|CODING|NM_001039397|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000189375 TBC1D28 TBC1D28 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,55 +. 17 18544272 T TA - TBC1D28 26858 TBC1 domain family, member 28 NM_001039397.2 -1 1978 633 NP_001034486.2 Q2M2D7 duplication intron GRCh37 18544272 18544273 Chr17(GRCh37):g.18544273dup 158+62 158+62 NM_001039397.2:c.158+62dup p.? p.? 5 5 62 5' 75.895 9.06592 0.977409 4.71567 75.895 9.06592 0.977409 4.40384 0 Cryptic Acceptor Weakly Activated 18544270 5.73162 0.886768 84.0413 6.95631 0.905534 89.0845 rs374282374 no no 0 0.000000 0 0.001111 0.000000 0.005102 0.000000 0.000000 0.000000 0.001239 0.000873 0.006536 0.005102 11 0 1 0 0 0 7 1 2 9900 2334 196 128 142 0 5648 1146 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 0 0 7 1 2 0 0 0 0 0 0 0 0 0 RF 33 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.53571427 . . . 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . INTRON(MODIFIER||||TBC1D28|mRNA|CODING|NM_001039397|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000189375 TBC1D28 TBC1D28 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374282374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0.0051 0 0 0.0009 0.0012 0.0065 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs5819539 rs5819539 rs5819539 1 1538 10 1.I 0,12,27 +rs199551168 17 18653021 T C - FBXW10 1211 F-box and WD repeat domain containing 10 NM_001267585.1 1 3442 3159 NP_001254514.1 Q5XX13 substitution intron GRCh37 18653021 18653021 Chr17(GRCh37):g.18653021T>C 671-14 671-14 NM_001267585.1:c.671-14T>C p.? p.? 3 2 611679 -14 3' 75.454 7.56004 0.720158 4.99524 72.6812 7.36754 0.735995 4.58452 -0.013407 rs199551168 yes no Frequency 1 0.000000 0 0.000398 0.002209 0.000591 0.000101 0.001114 0.000035 0.000139 0.000162 0.000162 0.002209 103 42 19 1 18 1 17 4 1 258972 19014 32148 9892 16160 28964 121958 24656 6180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 42 19 1 18 1 17 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.882 0.367 210 PASS . . . . . . . . . . . . . . . . 0.185567 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . 0.4975 . . . . . . . . 4.128e-03 . . . 0.0109 0.0030 0.0021 0.0078 0.0005 0.0017 0.0015 0.0017 0.0094 0.0023 0.0020 0.0056 0.0013 0.0012 0.0015 0.0017 . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.29 182 ENSG00000171931 FBXW10 FBXW10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199551168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0002 0.0006 0.0001 0.0007 4.683e-05 6.483e-05 0.0002 3.453e-05 0.0045 0.0019 0.0013 0 0.0053 0.0009 0.0007 0 . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . rs71231312 rs71231312 rs199551168 1 1538 10 1/0 0,234,255 +rs1026261 17 18682163 T C - FBXW10 1211 F-box and WD repeat domain containing 10 NM_001267585.1 1 3442 3159 NP_001254514.1 Q5XX13 substitution missense exon GRCh37 18682163 18682163 Chr17(GRCh37):g.18682163T>C 2711 2711 NM_001267585.1:c.2711T>C p.Val904Ala p.Val904Ala 14 611679 376 3' 77.0028 3.74384 0.009771 0 77.0028 3.74384 0.009771 0 0 rs1026261 yes no Frequency 1 T 0.000000 0 0.001303 0.014010 0.000352 0.000000 0.000547 0.000000 0.000185 0.000315 0.000477 0.014010 352 296 12 0 10 0 23 8 3 270132 21128 34066 10110 18280 30694 124188 25382 6284 0.000030 0.000284 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 3 1 0 0 0 0 0 0 344 290 10 0 10 0 23 8 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8600 4405 13005 0 1 1 0 0.000226963 7.68876e-05 0 0.000226963 7.68876e-05 102 COSM5428318|COSM5428318|COSM5428318|COSM5428318 Stomach|Liver|Large intestine|Haematopoietic and lymphoid tissue 0.001161|0.000422|0.000448|0.000567 861|2371|2231|3530 transition T C T>C 0.000 1.093 V Val GTC 0.240 A Ala GCC 0.403 904 11 5 Platypus 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Deleterious 0 III.54 208 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.487 . @ . . . . . 1 0.423 . . 252.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.1184 -0.211 -0.118 c . . . . . 1.500e-04 . . . 0.0010 0.0001 0 0 0 2.409e-05 0 0 0.0007 5.7e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.770 . . exonic exonic exonic . . 0.405 @ . . . 0.42 0.33 182 ENSG00000171931 FBXW10 FBXW10 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.131 . . . . D 0.653 0.053 . . 37 . 0.736 . . 0.663 . . . 0.688 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.444 . . 0 0 0 0 0 0 . 0.443 . . 0.437 . . . . . . 1 0.446 . . . . . 0.157 . 0.172 . HET 0.08 rs199779085 0.011 0.007 . . . . . . . . . . V.77 2.68E-4 . III.62 III.62 . 0.060000 . . . . 0.000077 . 0.221 . . III.62 0.0060 0.0004 0.0003 0 5.858e-05 0 8.996e-06 0.0006 0 0.0338 0.0098 0.0027 0 0.0075 0.0026 0.0017 0 . . 0.185 . 1.477 1.477000 . . 0.060000 . . 9.999999999999999E-209 0.570 0.273 . 0.354 0.096 . 0.568 . 0.292 1.477 0.991 0.011 rs1026261 rs1026261 rs1026261 rs1026261 1 1538 10 1/0 0,193,255 +. 17 20354747 C CCG - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 insertion intron GRCh37 20354747 20354748 Chr17(GRCh37):g.20354747_20354748insCG 921+46 921+47 NM_001042685.1:c.921+46_921+47insCG p.? p.? 10 10 46 5' 81.9389 X.11 0.995331 9.10207 81.9389 X.11 0.995331 9.75416 0 CG 255 Pass . . . . . . . . . . . . . . . . 1.0 . . . 125 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 125 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs143754684 17 20355233 C T - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20355233 20355233 Chr17(GRCh37):g.20355233C>T 670-37 670-37 NM_001042685.1:c.670-37G>A p.? p.? 9 8 -37 3' 80.5733 9.59713 0.439069 8.85995 80.5733 9.59713 0.439069 8.75926 0 rs143754684 yes no Frequency/1000G 2 0.000000 0 0.000298 0.000976 0.000366 0.000000 0.000821 0.000595 0.000021 0.000000 0.000394 0.000976 68 21 11 0 15 17 2 0 2 227976 21524 30034 7850 18276 28570 96112 20532 5078 0.000079 0.000093 0.000133 0.000000 0.000109 0.000280 0.000000 0.000000 0.000394 9 1 2 0 1 4 0 0 1 50 19 7 0 13 9 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 111 PASS 0.02 0.07 0.08 0.04 0.1 . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . 0.2081 . . . . . . . . 1.205e-04 . . . 0.0001 0.0001 0 0.0002 0 3.8e-05 0.0044 0.0001 0.0002 7.363e-05 0 0.0003 0 2.624e-05 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.36 0.23 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs143754684 0.130 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0003 0.0003 0 0.0007 0 2.365e-05 0.0005 0.0006 0.0012 0.0005 0.0014 0 0.0019 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.13 rs1809522 rs1809522 rs1809522 rs143754684 1 1538 255 1.I 0,0,255 +rs559276260 17 20355271 T G - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20355271 20355271 Chr17(GRCh37):g.20355271T>G 670-75 670-75 NM_001042685.1:c.670-75A>C p.? p.? 9 8 -75 3' 80.5733 9.59713 0.439069 8.85995 80.5733 9.59713 0.439069 8.85658 0 rs559276260 yes no Frequency/1000G 2 0.000000 0 0.042732 0.006800 0.031700 0.012900 0.113300 0.067700 0.003215 0.005034 0.005698 0.000000 0.008598 0.000000 0.001623 0.001070 0.002653 0.008598 81 41 4 0 13 0 18 3 2 25198 8144 702 194 1512 0 11088 2804 754 0.049383 0.048780 0.000000 0.000000 0.000000 0.000000 0.111111 0.000000 0.000000 4 2 0 0 0 0 2 0 0 73 37 4 0 13 0 14 3 2 0 0 0 0 0 0 0 0 0 RF 35 Genomes transversion A C A>C 0.000 -1.328 111 PASS . . . . . 0.0068 0.043 0.068 0.013 0.11 0.032 . . . . . 1.0 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . -0.1662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0427 . . . 0.5 0.2 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs559276260 0.098 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0050 0.0032 0.0057 0 0.0086 0.0011 0.0016 0.0027 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.098 rs9709036 rs9709036 rs9709036 rs9709036 1 1538 255 1.I 0,0,255 +rs770415411 17 20356415 C T - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20356415 20356415 Chr17(GRCh37):g.20356415C>T 577-35 577-35 NM_001042685.1:c.577-35G>A p.? p.? 7 6 -35 3' 94.8022 X.53 0.978474 X.35 94.8022 X.53 0.978474 X.88 0 rs770415411 yes no Frequency 1 C 0.000000 0 0.000046 0.000086 0.000152 0.000314 0.000000 0.000000 0.000022 0.000000 0.000000 0.000314 10 2 4 2 0 0 2 0 0 216250 23214 26378 6362 18016 25928 91442 20120 4790 0.000009 0.000000 0.000076 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 8 2 2 2 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.031 1.739 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . 0.1929 . . . . . . . . 1.226e-04 . . . 0 2.725e-05 0.0001 0 0 3.177e-05 0 0 0 2.344e-05 0.0001 0 0 2.448e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.39 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs770415411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.V 0.0001 4.151e-05 0.0001 0.0003 0 0 1.224e-05 0 0 0 8.502e-05 0.0016 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1872344 rs1872344 rs1872344 rs1872344 1 1538 10 1/0 0,255,255 +. 17 20356998 G A - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20356998 20356998 Chr17(GRCh37):g.20356998G>A 541-78 541-78 NM_001042685.1:c.541-78C>T p.? p.? 6 5 -78 3' 77.9908 6.47665 0.802973 5.21829 77.9908 6.47665 0.802973 5.07504 0 0.000483 0.000000 0.000000 0.000000 0.000000 0.000000 0.001195 0.000000 0.000000 0.001195 2 0 0 0 0 0 2 0 0 4144 1380 90 30 556 0 1674 280 134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition C T C>T 0.004 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.7019231 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . -0.2164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.36 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0 0 0 0.0012 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62076328 rs62076328 rs62076328 rs62076328 1 1538 10 1/0 0,255,255 +. 17 20357029 G A - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20357029 20357029 Chr17(GRCh37):g.20357029G>A 541-109 541-109 NM_001042685.1:c.541-109C>T p.? p.? 6 5 -109 3' 77.9908 6.47665 0.802973 5.21829 77.9908 6.47665 0.802973 5.21829 0 0.000140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000340 0.000000 0.000000 0.000340 1 0 0 0 0 0 1 0 0 7138 1994 178 42 894 0 2938 858 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition C T C>T 0.035 0.932 255 PASS . . . . . . . . . . . . . . . . 0.6857143 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . -0.0415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.39 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62076327 rs62076327 rs62076327 rs62076327 1 1538 10 1/0 0,255,255 +rs611248 17 20407244 T C - KRT16P3 37808 Keratin 16 pseudogene 3 NR_029393.1 -1 1956 0 substitution exon GRCh37 20407244 20407244 Chr17(GRCh37):g.20407244T>C 568 568 NR_029393.1:n.568A>G 1 -41 5' 85.2503 8.22968 0.945036 6.41632 85.2503 8.22968 0.945036 6.87064 0 Cryptic Acceptor Weakly Activated 20407227 1.79379 0.103477 73.5139 1.86753 0.106846 73.5139 rs611248 no no 0 T 0.000000 0 0.000764 0.001573 0.000000 0.000000 0.000000 0.000000 0.000660 0.000000 0.000000 0.001573 22 13 0 0 0 0 9 0 0 28778 8262 804 278 1542 0 13634 3344 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 13 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 RF 51 Genomes transition A G A>G 1.000 3.353 181 PASS . . . . . . . . . . . . . . . . 0.116883114 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T190A|KRT16P3|Non-coding_transcript|NON_CODING|NR_029393|NR_029393.ex.1) . . . . . . . 0.9189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.34 182 ENSG00000214822 KRT16P3 KRT16P3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs611248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.33 . . . . . . . . . 0.0016 0.0008 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs611248 rs611248 rs611248 rs611248 1 1538 10 1/0 0,239,255 +. (chr17:20415845 TG/T) 17 20415845 TG T Not on a known gene +rs68151103 17 21202123 A G - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202123 21202123 Chr17(GRCh37):g.21202123A>G 117-67 117-67 NM_145109.2:c.117-67A>G p.? p.? 3 2 602315 -67 3' 89.9203 9.94767 0.990096 XII.96 89.9203 9.94767 0.990096 XII.34 0 21202123 -61.9118 rs68151103 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000800 0.000000 0.001000 0.001000 0.000000 transition A G A>G 0.000 -0.037 220 PASS . . . . . 0.0008 0.0006 . 0.001 0.001 . . . . . . 0.21259843 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . 0.0439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.27 0.05 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs68151103 0.174 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.17 . rs68151103 rs68151103 rs68151103 1 1538 10 1/0 0,225,255 +rs77343934 17 21202310 G A - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202310 21202310 Chr17(GRCh37):g.21202310G>A 165+72 165+72 NM_145109.2:c.165+72G>A p.? p.? 3 3 602315 72 5' 68.5159 4.83534 0.527396 6.92808 68.5159 4.83534 0.527396 6.65676 0 rs77343934 yes no Frequency 1 G 0.000000 0 transition G A G>A 0.031 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.3668639 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . 0.1348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.25 0.06 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77343934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77343934 rs77343934 1 1538 10 1/0 0,230,255 +rs75476957 17 21202311 C T - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202311 21202311 Chr17(GRCh37):g.21202311C>T 165+73 165+73 NM_145109.2:c.165+73C>T p.? p.? 3 3 602315 73 5' 68.5159 4.83534 0.527396 6.92808 68.5159 4.83534 0.527396 6.64401 0 rs75476957 no no 0 C 0.000000 0 transition C T C>T 0.047 0.367 255 PASS . . . . . . . . . . . . . . . . 0.3493976 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . 0.2393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.17 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75476957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75476957 rs75476957 1 1538 10 1/0 0,229,255 +rs78463537 17 21202316 T C - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202316 21202316 Chr17(GRCh37):g.21202316T>C 165+78 165+78 NM_145109.2:c.165+78T>C p.? p.? 3 3 602315 78 5' 68.5159 4.83534 0.527396 6.92808 68.5159 4.83534 0.527396 7.18011 0 rs78463537 no no 0 C 0.000000 0 transition T C T>C 0.000 -4.799 255 PASS . . . . . . . . . . . . . . . . 0.5350877 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . . . . . . . . . -1.3120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.06 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78463537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78463537 rs78463537 1 1538 10 1/0 0,255,255 +rs77591777 17 21202318 G T - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202318 21202318 Chr17(GRCh37):g.21202318G>T 165+80 165+80 NM_145109.2:c.165+80G>T p.? p.? 3 3 602315 80 5' 68.5159 4.83534 0.527396 6.92808 68.5159 4.83534 0.527396 6.82681 0 rs77591777 yes no Frequency 1 G 0.000000 0 transversion G T G>T 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.3469388 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . . . . . . . -0.1462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.11 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77591777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77591777 rs77591777 1 1538 10 1/0 0,235,255 +rs35769673 17 21204316 G A - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21204316 21204316 Chr17(GRCh37):g.21204316G>A 399+11 399+11 NM_145109.2:c.399+11G>A p.? p.? 5 5 602315 11 5' 81.7977 8.41759 0.983817 8.43177 81.7977 8.41759 0.983817 8.05448 0 rs35769673 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.198 195 PASS . . . . . . . . . . . . . . . . 0.14624506 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 253.0 . . . . . . . . . . -0.1880 . . . . . . . . . . . . 0 6.967e-05 0 0 0 0 0 0.0004 0 6.406e-05 0 0 0 0 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.6 0.18 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs35769673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . rs35769673 rs35769673 rs35769673 rs35769673 1 1538 10 1/0 0,190,255 +rs67280439 17 21206360 A G - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21206360 21206360 Chr17(GRCh37):g.21206360A>G 517-135 517-135 NM_145109.2:c.517-135A>G p.? p.? 7 6 602315 -135 3' 69.1115 8.35604 0.434273 9.63059 69.1115 8.35604 0.434273 9.63059 0 New Donor Site 21206359 4.74439 0.172392 78.2933 rs67280439 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transition A G A>G 0.000 -0.440 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.45333335 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 150.0 . . . . . . . . . . 0.0540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.46 0.15 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs67280439 0.413 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.41 . rs67280439 rs67280439 rs67280439 1 1538 10 1/0 0,236,253 +rs72838545 17 21206372 G C - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21206372 21206372 Chr17(GRCh37):g.21206372G>C 517-123 517-123 NM_145109.2:c.517-123G>C p.? p.? 7 6 602315 -123 3' 69.1115 8.35604 0.434273 9.63059 69.1115 8.35604 0.434273 9.63059 0 rs72838545 yes no Frequency/1000G 2 C 0.000000 0 transversion G C G>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.45348838 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . -0.1226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.53 0.15 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72838545 0.413 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.41 . rs72838545 rs72838545 rs72838545 1 1538 10 1/0 0,231,251 +rs72838547 17 21206385 C T - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21206385 21206385 Chr17(GRCh37):g.21206385C>T 517-110 517-110 NM_145109.2:c.517-110C>T p.? p.? 7 6 602315 -110 3' 69.1115 8.35604 0.434273 9.63059 69.1115 8.35604 0.434273 9.63059 0 rs72838547 yes no Frequency/1000G 2 C 0.000000 0 0.008586 0.029500 0.001000 0.000000 0.003000 0.000000 transition C T C>T 0.000 -0.279 255 PASS . . . . . 0.029 0.0086 . . 0.003 0.001 . . . . . 0.43548387 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . 0.2021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0086 . . . 0.55 0.16 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72838547 0.402 0.384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 . rs72838547 rs72838547 rs72838547 1 1538 10 1/0 0,228,253 +rs1657685 17 21217397 A G - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21217397 21217397 Chr17(GRCh37):g.21217397A>G 961-62 961-62 NM_145109.2:c.961-62A>G p.? p.? 12 11 602315 -62 3' 85.6288 X.93 0.437099 14.1022 85.6288 X.93 0.437099 14.3578 0 rs1657685 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.000000 0.013300 0.000000 0.000000 0.000000 transition A G A>G 0.000 -2.216 255 PASS . . . . . . 0.0026 . . . 0.013 . . . . . 0.49122807 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 171.0 . . . . . . . . . . 0.1216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.35 0.22 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1657685 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1657685 rs1657685 rs1657685 rs1657685 1 1538 10 1/0 0,235,253 +rs1622401 17 21217400 G A - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21217400 21217400 Chr17(GRCh37):g.21217400G>A 961-59 961-59 NM_145109.2:c.961-59G>A p.? p.? 12 11 602315 -59 3' 85.6288 X.93 0.437099 14.1022 85.6288 X.93 0.437099 13.9858 0 rs1622401 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.013300 0.000000 0.000000 0.000000 transition G A G>A 0.000 -0.440 255 PASS . . . . . . 0.0026 . . . 0.013 . . . . . 0.3710692 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . . . . . . . . . 0.3395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.33 0.15 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1622401 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1622401 rs1622401 rs1622401 rs1622401 1 1538 10 1/0 0,233,255 +rs77515828 17 21320012 C T - KCNJ12 6258 Potassium inwardly-rectifying channel, subfamily J, member 12 NM_021012.4 1 5230 1302 NP_066292.2 Q14500 substitution 3'UTR GRCh37 21320012 21320012 Chr17(GRCh37):g.21320012C>T *56 *56 NM_021012.4:c.*56C>T p.? p.? 3 602323 1414 3' 89.8222 10.191 0.816308 XI.47 89.8222 10.191 0.816308 XI.47 0 rs77515828 yes no Frequency/1000G 2 C 0.000000 0 transition C T C>T 0.181 2.788 249 PASS . . . . . . . . . . . . . . . . 0.3018018 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . 1.1637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.52 0.69 182 ENSG00000184185 KCNJ12 . . . NM_021012:c.*56C>T\x3bNM_001194958:c.*56C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . rs77515828 rs77515828 1 1538 10 1/0 0,211,255 +rs77515828 17 21320012 C T - KCNJ18 39080 Potassium inwardly-rectifying channel, subfamily J, member 18 NM_001194958.2 1 2198 1302 NP_001181887.2 Q14500 substitution 3'UTR GRCh37 21320012 21320012 Chr17(GRCh37):g.21320012C>T *56 *56 NM_001194958.2:c.*56C>T p.? p.? 3 613236 1414 3' 89.8222 10.191 0.816308 11.1038 89.8222 10.191 0.816308 11.1038 0 rs77515828 yes no Frequency/1000G 2 C 0.000000 0 transition C T C>T 0.181 2.788 249 PASS . . . . . . . . . . . . . . . . 0.3018018 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . 1.1637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.52 0.69 182 ENSG00000184185 KCNJ12 . . . NM_021012:c.*56C>T\x3bNM_001194958:c.*56C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . rs77515828 rs77515828 1 1538 10 1/0 0,211,255 +rs9325914 (chr17:21536065 A/G) 17 21536065 A G Not on a known gene +rs9325915 (chr17:21536106 T/C) 17 21536106 T C Not on a known gene +rs9909512 (chr17:21544414 G/T) 17 21544414 G T Not on a known gene +. (chr17:21544420 A/G) 17 21544420 A G Not on a known gene +rs9285742 (chr17:21544462 G/A) 17 21544462 G A Not on a known gene +rs9285743 (chr17:21544470 A/G) 17 21544470 A G Not on a known gene +rs77287876 (chr17:21544493 C/T) 17 21544493 C T Not on a known gene +rs80038701 (chr17:21544512 G/C) 17 21544512 G C Not on a known gene +rs4267373 17 25944235 A G - KSR1 6465 Kinase suppressor of ras 1 NM_014238.1 1 4491 2289 NP_055053.1 substitution intron GRCh37 25944235 25944235 Chr17(GRCh37):g.25944235A>G 2149-86 2149-86 NM_014238.1:c.2149-86A>G p.? p.? 21 20 601132 -86 3' 0 4.45459 0.266876 6.02582 0 4.45459 0.266876 6.02582 0 25944235 -63.2059 rs4267373 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30925 8705 838 302 1616 0 14990 3494 980 30926 8706 838 302 1616 0 14990 3494 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15462 4352 419 151 808 0 7495 1747 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -1.086 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||KSR1|mRNA|CODING|NM_014238|) . . . . . . . -0.3404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.21 0.13 182 ENSG00000141068 KSR1 KSR1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs4267373 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs4267373 rs4267373 rs4267373 rs4267373 1 1538 255 1.I 0,0,255 +. 17 26699367 G GC - VTN 12724 Vitronectin NM_000638.3 -1 1678 1437 NP_000629.3 P04004 duplication upstream GRCh37 26699367 26699368 Chr17(GRCh37):g.26699368dup -2144 -2144 NM_000638.3:c.-2144dup p.? p.? 1 193190 -2207 5' 71.7377 8.0427 0.913603 6.47863 71.7377 8.0427 0.913603 6.47863 0 rs11437594 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999976 0.999902 1.000000 1.000000 1.000000 1.000000 0.999960 1.000000 1.000000 1.000000 126527 10221 20822 6958 7190 19696 49542 8368 3730 126530 10222 20822 6958 7190 19696 49544 8368 3730 0.999953 0.999804 1.000000 1.000000 1.000000 1.000000 0.999919 1.000000 1.000000 63262 5110 10411 3479 3595 9848 24770 4184 1865 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 19 14 33 4457 2410 6867 0.00424486 0.00577558 0.00478261 0.995755 0.994224 0.995217 3 G 255 Pass 1. 0.99 1. 0.97 1. 1. 1. 1. 1. 1. 1. ENSG00000004139:ENST00000457710:exon1:c.215dupC:p.A72fs SARM1:uc010crl.1:exon2:c.312_313insC:p.L104fs SARM1:NM_015077:exon2:c.314dupC:p.A105fs . . 0.9722222 . . . 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 72 . . . 1. 1. 1. 0.99 1. 1. . . . . . . . . . . 1.000 . . . 1 1 1 1 . 1 1 1 1 1 1 1 1 1 1 1 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000004139 SARM1 SARM1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.043 0.036 . . . . ID\x3dCOSM976864\x3bOCCURENCE\x3d1(endometrium) . . . . . . . . . . . . . . . Name\x3dnsv519388 0.998547 . . . . . 1 1.0000 1 1 1 1 0.9999 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs34421136 rs11437594 rs11437594 1 1538 255 1.I 0,0,255 +rs71373646 (chr17:26708302 G/T) 17 26708302 G T Not on a known gene +rs11658194 (chr17:26708550 T/C) 17 26708550 T C Not on a known gene +. 17 27071305 C G - NEK8 13387 NIMA (never in mitosis gene a)- related kinase 8 NM_178170.2 1 2858 2079 NP_835464.1 Q86SG6 substitution downstream GRCh37 27071305 27071305 Chr17(GRCh37):g.27071305C>G *2300 *2300 NM_178170.2:c.*2300C>G p.? p.? 15 609799 2329 3' 77.8949 6.36228 0.527562 4.62453 77.8949 6.36228 0.527562 4.62453 0 0.000452 0.000000 0.000000 0.000302 0.000000 0.000189 0.000467 0.002694 0.000000 0.002694 20 0 0 1 0 2 10 7 0 44256 2026 1910 3314 1566 10598 21394 2598 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 1 0 2 10 7 0 0 0 0 0 0 0 0 0 0 RF 152 Exomes transversion C G C>G 0.000 0.125 237 PASS . . . . . . . . . . . . . . . . 0.27272728 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . I.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000076604 TRAF4 TRAF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0.0003 0 0.0027 0.0005 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 17 27071305 C G - TRAF4 12034 TNF receptor-associated factor 4 NM_004295.3 1 2902 1413 NP_004286.2 Q9BUZ4 substitution intron GRCh37 27071305 27071305 Chr17(GRCh37):g.27071305C>G 143+32 143+32 NM_004295.3:c.143+32C>G p.? p.? 1 1 602464 32 5' 67.4408 4.87078 0.356354 8.57192 67.4408 4.87078 0.356354 9.00933 0 0.000452 0.000000 0.000000 0.000302 0.000000 0.000189 0.000467 0.002694 0.000000 0.002694 20 0 0 1 0 2 10 7 0 44256 2026 1910 3314 1566 10598 21394 2598 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 1 0 2 10 7 0 0 0 0 0 0 0 0 0 0 RF 152 Exomes transversion C G C>G 0.000 0.125 237 PASS . . . . . . . . . . . . . . . . 0.27272728 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . I.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000076604 TRAF4 TRAF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0.0003 0 0.0027 0.0005 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 17 27071310 C G - NEK8 13387 NIMA (never in mitosis gene a)- related kinase 8 NM_178170.2 1 2858 2079 NP_835464.1 Q86SG6 substitution downstream GRCh37 27071310 27071310 Chr17(GRCh37):g.27071310C>G *2305 *2305 NM_178170.2:c.*2305C>G p.? p.? 15 609799 2334 3' 77.8949 6.36228 0.527562 4.62453 77.8949 6.36228 0.527562 4.62453 0 0.001238 0.000000 0.001058 0.000893 0.001253 0.001861 0.001025 0.001913 0.001163 0.001913 55 0 2 3 2 20 22 5 1 44428 1908 1890 3358 1596 10748 21454 2614 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 0 2 3 2 20 22 5 1 0 0 0 0 0 0 0 0 0 RF 144 Exomes transversion C G C>G 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.9345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000076604 TRAF4 TRAF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0012 0.0011 0.0009 0.0013 0.0019 0.0010 0.0012 0.0019 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +. 17 27071310 C G - TRAF4 12034 TNF receptor-associated factor 4 NM_004295.3 1 2902 1413 NP_004286.2 Q9BUZ4 substitution intron GRCh37 27071310 27071310 Chr17(GRCh37):g.27071310C>G 143+37 143+37 NM_004295.3:c.143+37C>G p.? p.? 1 1 602464 37 5' 67.4408 4.87078 0.356354 8.57192 67.4408 4.87078 0.356354 9.36682 0 0.001238 0.000000 0.001058 0.000893 0.001253 0.001861 0.001025 0.001913 0.001163 0.001913 55 0 2 3 2 20 22 5 1 44428 1908 1890 3358 1596 10748 21454 2614 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 0 2 3 2 20 22 5 1 0 0 0 0 0 0 0 0 0 RF 144 Exomes transversion C G C>G 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.9345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000076604 TRAF4 TRAF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0012 0.0011 0.0009 0.0013 0.0019 0.0010 0.0012 0.0019 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +rs200444762 17 27085971 C T - FAM222B 25563 Family with sequence similarity 222, member B NM_001288631.1 -1 4350 1695 NP_001275560.1 substitution missense exon GRCh37 27085971 27085971 Chr17(GRCh37):g.27085971C>T 1012 1012 NM_001288631.1:c.1012G>A p.Ala338Thr p.Ala338Thr 4 924 3' 88.1236 13.0367 0.995224 13.7339 88.1236 13.0367 0.995224 13.7339 0 rs200444762 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000637 0.000044 0.000000 0.000000 0.000000 0.000000 0.000714 0.003266 0.000319 0.003266 170 1 0 0 0 0 87 80 2 266792 22674 33424 9864 18428 29786 121852 24492 6272 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 170 1 0 0 0 0 87 80 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8382 4086 12468 2 0 2 0.00023855 0 0.000160385 0.00023855 0 0.000160385 33 transition G A G>A 0.992 1.013 A Ala GCG 0.107 T Thr ACG 0.116 338 12 10 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 86.21 VIII.93 Tolerated 0.25 III.66 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.5068493 . . @ 148 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.103 . @ . . . . . 1 0.342 . . 292.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.8566 -0.854 -0.857 c . . . . . 7.595e-04 . . . 0.0001 0.0003 0 0 0.0031 0.0003 0 0 0.0002 0.0011 0 0 0.0046 0.0015 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.180 0.0002 . . . 0.43 0.59 182 ENSG00000173065 FAM222B FAM222B . . . 0.966 0.288 . 27 0.000415538 64976 26 0.000433434 59986 Uncertain_significance . 0 . 0.309 . . . . T 0.103 0.004 . . 37 . 0.231 . . 0.089 . . . 0.562 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.245 . . 0 0 0 0 0 0 . 0.119 . . 0.063 . . . . . . 0 0.123 . . . . . 0.322 . 0.238 . HET 0.69 rs200444762 . . . . . . . . . . . . VIII.04 . . 3.IX 0.847 . 0.460000 Q8WU58 . . . 0.000160 . 0.366 . . . 7.166e-05 0.0006 0 0 0 0.0035 0.0007 0.0004 0 0 0.0005 0 0 0 0.0020 0.0007 0 . . 0.522 . 0.238 0.238000 . . 0.460000 . . 1.0E-255 0.997 0.399 . 0.512 0.477 . 0.321 . 0.362 0.238 0.871 0.0002 . . rs200444762 rs200444762 1 1538 10 1/0 0,212,226 +rs372035273 17 27903489 C T - GIT1 4272 G protein-coupled receptor kinase interacting ArfGAP 1 NM_001085454.1 -1 3760 2313 NP_001078923.1 substitution intron GRCh37 27903489 27903489 Chr17(GRCh37):g.27903489C>T 1408-21 1408-21 NM_001085454.1:c.1408-21G>A p.? p.? 15 14 608434 -21 3' 76.3285 6.55123 0.487489 5.00693 76.3285 6.55123 0.446169 4.57733 -0.0282536 rs372035273 yes no Frequency 1 C 0.000000 0 0.000210 0.000000 0.000087 0.000000 0.000000 0.000000 0.000412 0.000000 0.000465 0.000412 58 0 3 0 0 0 52 0 3 276354 23964 34404 10082 18866 30770 126090 25722 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 0 3 0 0 0 52 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 50 transition G A G>A 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.3957219 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . 0.5672 . . . . . . . . 1.737e-04 . . . 0 0.0002 8.663e-05 0 0 0.0004 0 0 0 0.0002 8.921e-05 0 0 0.0003 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.65 0.12 182 ENSG00000264031 GIT1 GIT1 . . . . . . 14 0.000215464 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs372035273 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . II.21 0 0.0002 8.938e-05 0 0 0 0.0004 0.0004 0 0 0.0002 0 0 0 0 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs372035273 rs372035273 1 1538 10 1/0 0,226,255 +rs148682566 17 29325919 G A - RNF135 21158 Ring finger protein 135 NM_032322.3 1 2153 1299 NP_115698.3 Q8IUD6 substitution missense exon GRCh37 29325919 29325919 Chr17(GRCh37):g.29325919G>A 1009 1009 NM_032322.3:c.1009G>A p.Asp337Asn p.Asp337Asn 5 611358 240 3' 88.0151 9.15944 0.99429 10.975 88.0151 9.15944 0.99429 10.975 0 SPla/RYanodine receptor SPRY Butyrophylin-like B30.2/SPRY domain SPla/RYanodine receptor subgroup rs148682566 yes no Frequency 1 G 0.000000 0 0.000192 0.000000 0.000000 0.000000 0.000000 0.000065 0.000381 0.000000 0.000466 0.000381 53 0 0 0 0 2 48 0 3 275658 24012 34282 9950 18858 30670 125830 25622 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 0 0 0 0 2 48 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4406 12997 9 0 9 0.00104651 0 0.000691988 0.00104651 0 0.000691988 49 transition G A G>A 0.000 -0.279 D Asp GAC 0.539 N Asn AAC 0.536 337 10 6 Cow 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 226.57 0.00 Tolerated 0.5 III.55 good 8.037E-1 0.0008818 255 PASS . . . . . . . . . . . ENSG00000181481:ENST00000328381:exon5:c.G1009A:p.D337N RNF135:uc002hfz.3:exon5:c.G1009A:p.D337N RNF135:NM_032322:exon5:c.G1009A:p.D337N . . 0.37333333 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.179 . . 150.0 . . . . 0.0007 0.001 . 0.0007 0.001 . -0.8381 -0.874 -0.838 c . . . . . 1.658e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 0.0002 0 0 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.683 . . exonic exonic exonic . . 0.048 @ . . . 0.61 0.47 182 ENSG00000181481 RNF135 RNF135 . . . 0.000 0.065 . 18 0.000277025 64976 18 0.00030007 59986 Uncertain_significance . 0 . 0.105 . . . . T 0.387 0.017 . . 37 . 0.499 . . 0.420 . . . 0.240 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.256 . . 0.239 . . . . . . 0 0.107 . . . . . 0.493 . 0.002 . HET 0.57 rs148682566 . . . . . . . . . . . . XI.95 0.0 . V.21 -3.19 . 0.110000 Q8IUD6 . . . 0.000692 . 0.044 . . . 0 0.0002 0 0 0 0 0.0004 0.0006 6.521e-05 0 0.0001 0 0 0 0 0.0003 0 . . 0.730 . -0.323 -0.323000 . . 0.110000 . . 1.0E-255 0.000 0.063 . 0.266 0.083 . 0.177 . 0.164 -0.323 -0.199 0.001 . . rs148682566 rs148682566 1 1538 10 1/0 0,232,255 +rs556662564 (chr17:30433782 G/A) 17 30433782 G A Not on a known gene +rs3841494 17 31266438 A G - TMEM98 24529 Transmembrane protein 98 NM_001033504.1 1 1719 681 NP_001028676.1 Q9Y2Y6 substitution intron GRCh37 31266438 31266438 Chr17(GRCh37):g.31266438A>G 414-57 414-57 NM_001033504.1:c.414-57A>G p.? p.? 6 5 615949 -57 3' 81.2814 7.59834 0.426221 VI.81 81.2814 7.59834 0.426221 6.48902 0 rs3841494 no no 0 A 0.000000 0 0.000074 0.000124 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 0.000124 2 1 0 0 0 0 1 0 0 26954 8050 712 282 1596 0 12928 2602 784 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition A G A>G 0.000 -0.279 193 PASS . . . . . . . . . . . . . . . . 0.14150943 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.1806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.16 182 ENSG00000006042 TMEM98 TMEM98 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs3841494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.42e-05 0 0 0 0 7.735e-05 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs28367276 rs28367276 rs28367276 rs28367276 1 1538 10 1/0 0,227,255 +rs75467031 17 33329814 G A - LIG3 6600 Ligase III, DNA, ATP-dependent NM_013975.3 1 3722 3030 NP_039269.2 P49916 substitution intron GRCh37 33329814 33329814 Chr17(GRCh37):g.33329814G>A 2796+6 2796+6 NM_013975.3:c.2796+6G>A p.? p.? 19 19 600940 6 5' 90.3122 9.15773 0.983833 7.30626 90.0021 8.68007 0.971975 7.52388 -0.0225488 rs75467031 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.002000 0.004300 0.001839 0.000377 0.000640 0.003485 0.000000 0.001614 0.002890 0.000895 0.001841 0.003485 477 9 21 28 0 43 343 22 11 259376 23866 32792 8034 18790 26650 118684 24584 5976 0.000008 0.000000 0.000000 0.000000 0.000000 0.000075 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 475 9 21 28 0 41 343 22 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4404 12979 25 2 27 0.00290698 0.000453926 0.00207596 0.00290698 0.000453926 0.00207596 59 transition G A G>A 0.000 -1.005 255 PASS . 0.0014 . . 0.004 . 0.0012 0.0043 . 0.002 0.001 . . . . . 0.50769234 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . 0.0005 0.0021 0.0029 0.0005 0.0021 0.0029 . 0.2809 . . . . . . . . 2.290e-03 . . . 0.0007 0.0015 0.0007 0 0 0.0023 0.0016 0.0018 0.0007 0.0025 0.0006 0 0.0002 0.0040 0.0032 0.0017 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.38 0.1 182 ENSG00000005156 LIG3 LIG3 . . . . . . 130 0.00200074 64976 124 0.00206715 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75467031 . . . . . . . . . . . . . . . . . . . . 0.0005 0.06 Name\x3dnsv2035 0.002076 . . . . . 0.0005 0.0019 0.0006 0.0036 0 0.0009 0.0030 0.0014 0.0016 0.0001 0.0015 0.0012 0 0 0.0009 0.0024 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs75467031 rs75467031 1 1538 10 1/0 0,255,255 +rs62062408 17 33478187 A G - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478187 33478187 Chr17(GRCh37):g.33478187A>G 381+945 381+945 NM_173167.3:c.381+945A>G p.? p.? 3 3 611220 945 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs62062408 yes no Frequency 1 0.000000 0 0.000059 0.000000 0.000000 0.000000 0.000000 0.000298 0.000045 0.000166 0.000000 0.000298 3 0 0 0 0 1 1 1 0 51078 9384 3160 2942 2332 3358 22298 6040 1564 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.406 0.044 255 PASS . . . . . . . . . . . . . . . . 0.99335545 . . @ 299 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . 0.1736 . . . . . . . . 1.238e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.18 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62062408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0004 0.0001 0 0.0003 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62062408 rs62062408 rs62062408 rs62062408 1 1538 255 1.I 0,0,255 +rs12165042 17 33478216 T C - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478216 33478216 Chr17(GRCh37):g.33478216T>C 381+974 381+974 NM_173167.3:c.381+974T>C p.? p.? 3 3 611220 974 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs12165042 no no 0 0.000000 0 transition T C T>C 0.406 0.044 255 PASS . . . . . . . . . . . . . . . . 0.776435 . . @ 257 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 331.0 . . . . . . . . . . 0.1463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.22 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs12165042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs12165042 rs12165042 rs12165042 rs12165042 1 1538 10 1/0 0,212,208 +rs28625679 17 33478229 A T - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478229 33478229 Chr17(GRCh37):g.33478229A>T 381+987 381+987 NM_173167.3:c.381+987A>T p.? p.? 3 3 611220 987 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 Cryptic Acceptor Strongly Activated 33478247 2.90372 0.001394 73.0362 3.22535 0.002032 73.0362 rs28625679 yes no Frequency 1 0.000000 0 0.001285 0.002778 0.001512 0.000358 0.004688 0.001888 0.001212 0.000348 0.001359 0.004688 27 2 4 1 3 6 9 1 1 21014 720 2646 2794 640 3178 7426 2874 736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 2 4 1 3 6 9 1 1 0 0 0 0 0 0 0 0 0 RF 81 Exomes transversion A T A>T 0.390 0.044 255 PASS . . . . . . . . . . . . . . . . 0.9932886 . . @ 296 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 298.0 . . . . . . . . . . 0.1290 . . . . . . . . 5.068e-04 . . . 0.0026 0.0028 0.0089 0 0 0.0013 0 0.0046 0 0.0031 0.0106 0 0 0.0022 0 0.0046 . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.19 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs28625679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0013 0.0015 0.0004 0.0047 0.0003 0.0012 0.0014 0.0019 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28625679 rs28625679 rs28625679 rs28625679 1 1538 255 1.I 0,0,255 +rs62062409 17 33478303 A C - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478303 33478303 Chr17(GRCh37):g.33478303A>C 381+1061 381+1061 NM_173167.3:c.381+1061A>C p.? p.? 3 3 611220 1061 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs62062409 no no 0 0.000000 0 transversion A C A>C 0.083 -2.297 255 PASS . . . . . . . . . . . . . . . . 0.9897959 . . @ 194 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 196.0 . . . . . . . . . . -0.5703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.21 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62062409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62062409 rs62062409 rs62062409 rs62062409 1 1538 255 1.I 0,0,255 +rs62062410 17 33478323 T C - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478323 33478323 Chr17(GRCh37):g.33478323T>C 381+1081 381+1081 NM_173167.3:c.381+1081T>C p.? p.? 3 3 611220 1081 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs62062410 no no 0 0.000000 0 transition T C T>C 0.028 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.994012 . . @ 166 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . -0.5380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.24 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62062410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62062410 rs62062410 rs62062410 rs62062410 1 1538 255 1.I 0,0,255 +rs62062411 17 33478344 T G - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478344 33478344 Chr17(GRCh37):g.33478344T>G 381+1102 381+1102 NM_173167.3:c.381+1102T>G p.? p.? 3 3 611220 1102 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs62062411 no no 0 0.000000 0 transversion T G T>G 0.134 0.044 255 PASS . . . . . . . . . . . . . . . . 0.986014 . . @ 141 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . . . . . . . . . -0.1052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.19 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62062411 . . . . . . ID\x3dCOSN138707\x3bOCCURENCE\x3d1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62062411 rs62062411 rs62062411 rs62062411 1 1538 255 1.I 0,0,255 +rs306818 (chr17:34494927 G/T) 17 34494927 G T Not on a known gene +. (chr17:34497919 A/G) 17 34497919 A G Not on a known gene +. (chr17:34581670 C/G) 17 34581670 C G Not on a known gene +rs764528080 (chr17:34581889 C/T) 17 34581889 C T Not on a known gene +. (chr17:34582971 G/T) 17 34582971 G T Not on a known gene +. (chr17:34584171 C/G) 17 34584171 C G Not on a known gene +. 17 34746704 C G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution synonymous exon GRCh37 34746704 34746704 Chr17(GRCh37):g.34746704C>G 1380 1380 NM_001291462.1:c.1380G>C p.Thr460= p.Thr460Thr 14 610810 299 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.38 0 transversion G C G>C 0.024 0.125 T Thr ACG 0.116 T Thr ACC 0.361 460 198 PASS . . . . . . . . . . . . . . . . 0.15343915 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 189.0 . . . . . . . . . . -0.1934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . . TBC1D3H . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . rs3895688 rs3895688 rs3895688 rs3895688 1 1538 10 1/0 0,204,255 +. 17 34747987 G T - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution missense exon GRCh37 34747987 34747987 Chr17(GRCh37):g.34747987G>T 1060 1060 NM_001291462.1:c.1060C>A p.Gln354Lys p.Gln354Lys 13 610810 -22 5' 79.7784 8.06623 0.849096 2.72092 79.7784 8.06623 0.849096 II.21 0 transversion C A C>A 0.039 0.205 Q Gln CAG 0.744 K Lys AAG 0.575 354 12 3 Baker's yeast 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 146.45 0.00 Tolerated 1 II.54 255 PASS . . . . . . . . . . . . . . . . 0.45652175 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.014 . . 138.0 . . . . . . . . . . -1.2688 -1.413 -1.269 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.094 @ . . . . . . ENSG00000242384 TBC1D3H . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.409 . . . . D 0.918 0.334 . . 37 . 0.060 . . 0.283 . . . . 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.588 . . 0.500 . . . . . . 1 . . . . . . . . 0.016 . HET 1 . . . . . . . . . . . . . . . . 0.53 -1.06 . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.587 -0.587000 . . 1.000000 . . 1.0E-255 0.005 0.169 . 0.043 0.088 . 0.178 . 0.271 -0.587 -0.617 . rs306818 rs306818 rs306818 rs306818 1 1538 10 1/0 0,244,255 +. 17 34749438 C G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution intron GRCh37 34749438 34749438 Chr17(GRCh37):g.34749438C>G 762+64 762+64 NM_001291462.1:c.762+64G>C p.? p.? 10 10 610810 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.000 -0.682 182 PASS . . . . . . . . . . . . . . . . 0.116 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 250.0 . . . . . . . . . . -0.3978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,188,255 +. 17 34749494 A G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution intron GRCh37 34749494 34749494 Chr17(GRCh37):g.34749494A>G 762+8 762+8 NM_001291462.1:c.762+8T>C p.? p.? 10 10 610810 8 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.996238 X.87 0.000177428 transition T C T>C 0.268 -0.602 177 PASS . . . . . . . . . . . . . . . . 0.10574018 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 331.0 . . . . . . . . . . -0.4217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs4795246 rs4795246 rs4795246 rs4795246 1 1538 10 1/0 0,175,255 +. 17 34750317 G A - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution synonymous exon GRCh37 34750317 34750317 Chr17(GRCh37):g.34750317G>A 660 660 NM_001291462.1:c.660C>T p.Ser220= p.Ser220Ser 9 610810 -8 5' 90.7326 X.06 0.995433 XI.07 90.7326 X.06 0.995433 XI.39 0 transition C T C>T 1.000 0.851 S Ser TCC 0.220 S Ser TCT 0.185 220 188 PASS . . . . . . . . . . . . . . . . 0.13207547 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.2354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242384 TBC1D3H . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . rs4794769 . . 1 1538 10 1/0 0,255,255 +. 17 34750980 A G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution synonymous exon GRCh37 34750980 34750980 Chr17(GRCh37):g.34750980A>G 540 540 NM_001291462.1:c.540T>C p.Tyr180= p.Tyr180Tyr 8 610810 -7 5' 86.7234 X.83 0.995484 VIII.55 86.7234 X.83 0.995337 9.19037 -4.92223e-05 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 4 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.984 1.013 Y Tyr TAT 0.438 Y Tyr TAC 0.562 180 214 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . -0.0077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242384 TBC1D3H . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs306820 rs306820 rs306820 rs306820 1 1538 10 1/0 0,202,255 +. 17 34753219 C G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution intron GRCh37 34753219 34753219 Chr17(GRCh37):g.34753219C>G 279+42 279+42 NM_001291462.1:c.279+42G>C p.? p.? 5 5 610810 42 5' 81.9786 X.32 0.864349 7.1292 81.9786 X.32 0.864349 6.85519 0 transversion G C G>C 0.433 0.044 178 PASS . . . . . . . . . . . . . . . . 0.10810811 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . -0.1025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,192,255 +. 17 34799038 G T - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution missense exon GRCh37 34799038 34799038 Chr17(GRCh37):g.34799038G>T 1060 1060 NM_001001417.6:c.1060C>A p.Gln354Lys p.Gln354Lys 13 610144 -22 5' 79.7784 8.06623 0.849096 2.72092 79.7784 8.06623 0.849096 II.21 0 COSM5427097|COSM5427097 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transversion C A C>A 0.677 0.367 Q Gln CAG 0.744 K Lys AAG 0.575 354 12 3 Baker's yeast 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 146.45 0.00 Tolerated 1 II.55 255 PASS . . . . . . . . . . . . . . . . 0.47959185 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 98.0 . . . . . . . . . . -1.1398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161583 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.119 0.119000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 0.119 . . rs306818 rs306818 rs306818 rs306818 1 1538 10 1/0 0,255,255 +. 17 34799113 C G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution missense exon GRCh37 34799113 34799113 Chr17(GRCh37):g.34799113C>G 985 985 NM_001001417.6:c.985G>C p.Val329Leu p.Val329Leu 13 610144 57 3' 70.103 8.45718 0.917051 7.81349 70.103 8.45718 0.917051 7.46025 0 Cryptic Acceptor Strongly Activated 34799096 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.189 -0.198 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.43 II.83 177 PASS . . . . . . . . . . . . . . . . 0.10752688 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.008 . . 93.0 . . . . . . . . . . -1.9129 -1.984 -1.913 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161583 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.043 0.002 . . 37 . 0.109 . . 0.258 . . . 0.404 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 . . . . . . . . 0.208 . LowAF 0.62 . . . . . . . . . . . . . . . . . . . 0.710000 . . . . . . 0.038 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.727 -1.727000 . . 0.710000 . . 1.0E-177 0.000 0.063 . 0.016 0.002 . 0.102 . 0.017 -1.727 0.542 . . . . . 1 1538 10 1/0 0,230,255 +. 17 34800489 C G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution intron GRCh37 34800489 34800489 Chr17(GRCh37):g.34800489C>G 762+64 762+64 NM_001001417.6:c.762+64G>C p.? p.? 10 10 610144 64 5' 95.6376 X.36 0.995708 X.11 95.6376 X.36 0.995708 X.83 0 transversion G C G>C 0.039 0.125 214 PASS . . . . . . . . . . . . . . . . 0.1957672 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 189.0 . . . . . . . . . . -0.3848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,207,255 +. 17 34800545 A G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution intron GRCh37 34800545 34800545 Chr17(GRCh37):g.34800545A>G 762+8 762+8 NM_001001417.6:c.762+8T>C p.? p.? 10 10 610144 8 5' 95.6376 X.36 0.995708 X.11 95.6376 X.36 0.996238 X.15 0.000177428 transition T C T>C 0.665 0.125 169 PASS . . . . . . . . . . . . . . . . 0.109540634 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 283.0 . . . . . . . . . . -0.4384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-169 . . . . . . . . . . . . rs4795246 rs4795246 rs4795246 rs4795246 1 1538 10 1/0 0,182,255 +. 17 34801418 C T - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution missense exon GRCh37 34801418 34801418 Chr17(GRCh37):g.34801418C>T 610 610 NM_001001417.6:c.610G>A p.Glu204Lys p.Glu204Lys 9 610144 -58 5' 90.7326 X.06 0.995433 XI.07 90.7326 X.06 0.995433 XI.42 0 transition G A G>A 1.000 3.111 E Glu GAG 0.583 K Lys AAG 0.575 204 12 10 Baker's yeast 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 228.11 36.47 Deleterious 0.03 II.57 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.561 . @ . . . . . 1 0.718 . . 55.0 . . . . . . . . . . -0.0402 -0.364 -0.040 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161583 . . . . . 0.007 0.113 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . T 0.040 0.002 . . 37 . 0.336 . . 0.171 . . . 0.911 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.539 . . 0.525 . . . . . . 0 . . . . . . 0.181 . 0.491 . LowAF 0 . . . . . . . . . . . . . V.51 . . . . . 0.000000 . . . . . . 0.288 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.000000 . . 1.0E-177 1.000 0.715 . 0.134 0.732 . 0.662 . 0.269 0.119 0.542 . . . . . 1 1538 10 1/0 0,252,255 +rs306820 17 34802031 A G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution synonymous exon GRCh37 34802031 34802031 Chr17(GRCh37):g.34802031A>G 540 540 NM_001001417.6:c.540T>C p.Tyr180= p.Tyr180Tyr 8 610144 -7 5' 86.7234 X.83 0.995484 VIII.55 86.7234 X.83 0.995337 9.19037 -4.92223e-05 rs306820 yes no Frequency 1 0.000000 0 transition T C T>C 0.992 0.851 Y Tyr TAT 0.438 Y Tyr TAC 0.562 180 192 PASS . . . . . . . . . . . . . . . . 0.13962264 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 265.0 . . . . . . . . . . -0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161583 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs306820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs306820 rs306820 rs306820 rs306820 1 1538 10 1/0 0,188,255 +. 17 34803312 A G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution intron GRCh37 34803312 34803312 Chr17(GRCh37):g.34803312A>G 497+10 497+10 NM_001001417.6:c.497+10T>C p.? p.? 7 7 610144 10 5' 82.0854 7.47029 0.992416 6.30485 82.0854 7.47029 0.992416 6.25454 0 0.001623 0.001603 0.000704 0.000000 0.000158 0.000300 0.003233 0.015464 0.003650 0.015464 55 13 5 0 1 1 23 9 3 33884 8108 7104 492 6332 3330 7114 582 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 13 5 0 1 1 23 9 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4000109 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.409 -1.812 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.7570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.26 182 . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0 0 0 0.0003 0.0014 0.0003 0.0033 0.0076 0.0182 0 0.0014 0.0263 0.0166 0.0152 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs3875011 rs3875011 rs3875011 rs3875011 1 1538 255 1.I 0,0,255 +. 17 36285513 A G - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001123391.3:c.-1-31A>G p.? p.? 2 1 607741 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001001418.6:c.-1-31A>G p.? p.? 2 1 610806 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001291465.1:c.-1-31A>G p.? p.? 2 1 610807 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001291466.1:c.-1-31A>G p.? p.? 2 1 610808 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001123392.3:c.-1-31A>G p.? p.? 2 1 610811 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001291463.1:c.-1-31A>G p.? p.? 2 1 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001291459.1:c.-1-31A>G p.? p.? 2 1 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36287246 A G - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001123391.3:c.198+59A>G p.? p.? 4 4 607741 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001001418.6:c.198+59A>G p.? p.? 4 4 610806 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001291465.1:c.198+59A>G p.? p.? 4 4 610807 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001291466.1:c.198+59A>G p.? p.? 4 4 610808 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001123392.3:c.198+59A>G p.? p.? 4 4 610811 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001291463.1:c.198+59A>G p.? p.? 4 4 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001291459.1:c.198+59A>G p.? p.? 4 4 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001123391.3:c.198+86A>G p.? p.? 4 4 607741 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001001418.6:c.198+86A>G p.? p.? 4 4 610806 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001291465.1:c.198+86A>G p.? p.? 4 4 610807 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001291466.1:c.198+86A>G p.? p.? 4 4 610808 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001123392.3:c.198+86A>G p.? p.? 4 4 610811 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001291463.1:c.198+86A>G p.? p.? 4 4 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001291459.1:c.198+86A>G p.? p.? 4 4 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36291578 G C - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001123391.3:c.762+64G>C p.? p.? 10 10 607741 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001001418.6:c.762+64G>C p.? p.? 10 10 610806 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001291465.1:c.762+64G>C p.? p.? 10 10 610807 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001291466.1:c.762+64G>C p.? p.? 10 10 610808 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001123392.3:c.762+64G>C p.? p.? 10 10 610811 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001291463.1:c.762+64G>C p.? p.? 10 10 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001291459.1:c.762+64G>C p.? p.? 10 10 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36292954 G C - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001123391.3:c.985G>C p.Val329Leu p.Val329Leu 13 607741 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001001418.6:c.985G>C p.Val329Leu p.Val329Leu 13 610806 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001291465.1:c.985G>C p.Val329Leu p.Val329Leu 13 610807 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 259.64 IV.86 Tolerated 0.68 II.71 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001291466.1:c.985G>C p.Val329Leu p.Val329Leu 13 610808 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001123392.3:c.985G>C p.Val329Leu p.Val329Leu 13 610811 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001291463.1:c.985G>C p.Val329Leu p.Val329Leu 13 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001291459.1:c.985G>C p.Val329Leu p.Val329Leu 13 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +rs774525602 17 36294111 G A - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001123391.3:c.1161G>A p.Arg387= p.Arg387Arg 14 607741 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001001418.6:c.1161G>A p.Arg387= p.Arg387Arg 14 610806 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001291465.1:c.1161G>A p.Arg387= p.Arg387Arg 14 610807 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001291466.1:c.1161G>A p.Arg387= p.Arg387Arg 14 610808 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001123392.3:c.1161G>A p.Arg387= p.Arg387Arg 14 610811 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001291463.1:c.1161G>A p.Arg387= p.Arg387Arg 14 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001291459.1:c.1161G>A p.Arg387= p.Arg387Arg 14 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +. (chr17:36335368 A/C) 17 36335368 A C Not on a known gene +. (chr17:36338296 C/G) 17 36338296 C G Transcript NM_032258.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TBC1D3F +. 17 36338296 C G - TBC1D3K 51245 TBC1 domain family, member 3K NM_001291464.1 -1 2065 1650 NP_001278393.1 A0A087X1G2 substitution synonymous exon GRCh37 36338296 36338296 Chr17(GRCh37):g.36338296C>G 1380 1380 NM_001291464.1:c.1380G>C p.Thr460= p.Thr460Thr 14 299 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.38 0 COSM3680343 Haematopoietic and lymphoid tissue 0.000283 3530 transversion G C G>C 0.039 0.125 T Thr ACG 0.116 T Thr ACC 0.361 460 195 PASS . . . . . . . . . . . . . . . . 0.14622642 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 212.0 . . . . . . . . . . -0.2280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.74 182 ENSG00000197681 TBC1D3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . rs3895688 rs3895688 rs3895688 rs3895688 1 1538 10 1/0 0,198,255 +. (chr17:36338515 C/T) 17 36338515 C T Transcript NM_032258.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) TBC1D3F +. 17 36338515 C T - TBC1D3K 51245 TBC1 domain family, member 3K NM_001291464.1 -1 2065 1650 NP_001278393.1 A0A087X1G2 substitution synonymous exon GRCh37 36338515 36338515 Chr17(GRCh37):g.36338515C>T 1161 1161 NM_001291464.1:c.1161G>A p.Arg387= p.Arg387Arg 14 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.102 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12631579 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 285.0 . . . . . . . . . . -0.1931 -0.174 -0.193 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.138 @ . . . 0.55 0.76 182 ENSG00000197681 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.146 . . 0.030 . 0.258 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,183,255 +rs751395292 (chr17:36339588 G/C) 17 36339588 G C Transcript NM_032258.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) TBC1D3F +rs751395292 17 36339588 G C - TBC1D3K 51245 TBC1 domain family, member 3K NM_001291464.1 -1 2065 1650 NP_001278393.1 A0A087X1G2 substitution missense exon GRCh37 36339588 36339588 Chr17(GRCh37):g.36339588G>C 1069 1069 NM_001291464.1:c.1069C>G p.Leu357Val p.Leu357Val 13 -13 5' 79.7784 8.06623 0.849096 II.21 79.7784 8.06623 0.849096 2.71456 0 rs751395292 yes no Frequency 1 0.000000 0 0.000123 0.000000 0.000039 0.000000 0.000000 0.000871 0.000044 0.000000 0.000000 0.000871 20 0 1 0 0 16 3 0 0 163190 17416 25888 5490 13296 18372 68778 9554 4396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 1 0 0 16 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 1.000 1.981 L Leu CTG 0.404 V Val GTG 0.468 357 12 6 Zebrafish 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 180.25 0.00 Tolerated 0.97 II.54 182 PASS . . . . . . . . . . . . . . . . 0.116883114 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.474 . . 154.0 . . . . . . . . . . -0.2310 -0.498 -0.231 c . . . . . 9.397e-05 . . . 0 0.0001 0 0 0 0 0 0.0006 0 0.0001 0 0 0 0 0 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.138 @ . . . 0.49 0.73 182 ENSG00000197681 TBC1D3 . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.206 . . . . T 0.215 0.008 . . 37 . 0.363 . . 0.061 . . . 0.603 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.899 . . 0.764 . . . . . . 0 . . . . . . . . 0.052 . LowAF 0.11 rs751395292 . . . . . . . . . . . . . . . 0.109 0.109 . 0.120000 . . . . . . 0.291 . . . 0 0.0001 3.986e-05 0 0 0 5.34e-05 0 0.0009 0 0 0 0 0 0 0 0 . . 0.558 . 0.181 0.181000 . . 0.120000 . . 1.0E-182 0.042 0.209 . 0.124 0.082 . 0.363 . 0.277 0.181 0.060 . rs62073819 rs62073819 rs62073819 rs62073819 1 1538 10 1/0 0,209,255 +. 17 36341048 C G - TBC1D3F 18257 TBC1 domain family, member 3F NM_032258.4 -1 2079 1650 NP_115634.3 Q8IZP1 substitution intron GRCh37 36341048 36341048 Chr17(GRCh37):g.36341048C>G 762+64 762+64 NM_032258.4:c.762+64G>C p.? p.? 10 10 610809 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.331 0.205 198 PASS . . . . . . . . . . . . . . . . 0.15492958 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 213.0 . . . . . . . . . . -0.3230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.34 182 . TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,198,255 +. 17 36341048 C G - TBC1D3K 51245 TBC1 domain family, member 3K NM_001291464.1 -1 2065 1650 NP_001278393.1 A0A087X1G2 substitution intron GRCh37 36341048 36341048 Chr17(GRCh37):g.36341048C>G 762+64 762+64 NM_001291464.1:c.762+64G>C p.? p.? 10 10 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.331 0.205 198 PASS . . . . . . . . . . . . . . . . 0.15492958 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 213.0 . . . . . . . . . . -0.3230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.34 182 . TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,198,255 +. (chr17:36398140 TCTCA/T) 17 36398140 TCTCA T Not on a known gene +rs71384243 17 36734707 A G - SRCIN1 29506 SRC kinase signaling inhibitor 1 NM_025248.2 -1 7050 3552 NP_079524.2 substitution intron GRCh37 36734707 36734707 Chr17(GRCh37):g.36734707A>G 324+36 324+36 NM_025248.2:c.324+36T>C p.? p.? 2 2 610786 36 5' 95.6376 X.36 0.988469 16.7104 95.6376 X.36 0.988469 16.8664 0 rs71384243 yes no Frequency 1 A 0.000000 0 0.000046 0.000000 0.000259 0.000000 0.000000 0.000000 0.000029 0.000000 0.000000 0.000259 10 0 7 0 0 0 3 0 0 218532 19944 26994 6272 16466 20680 101786 21406 4984 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 7 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.23404256 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||SRCIN1|mRNA|CODING|NM_025248|) . . . . . . . 0.2085 . . . . . . . . . . . . 0 0.0036 0.0625 0 0 0.0020 0 0 0 0.0045 0.0882 0 0 0.0026 0.1 0 . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.55 182 ENSG00000017373 SRCIN1 SRCIN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs71384243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.79e-05 0.0002 0 0 0 3.45e-05 0 0 0 3.262e-05 0.0012 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71384243 rs71384243 rs71384243 1 1538 10 1/0 0,255,255 +rs200827941 17 36958425 G T - CWC25 25989 CWC25 spliceosome-associated protein homolog NM_017748.4 -1 3103 1278 NP_060218.1 Q9NXE8 substitution missense exon GRCh37 36958425 36958425 Chr17(GRCh37):g.36958425G>T 1198 1198 NM_017748.4:c.1198C>A p.Leu400Met p.Leu400Met 10 35 3' 81.1784 9.40339 0.95875 IX.25 81.1784 9.40339 0.95875 10.0811 0 rs200827941 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000610 0.000083 0.000262 0.000197 0.000000 0.000585 0.000932 0.000543 0.000929 0.000932 169 2 9 2 0 18 118 14 6 277074 24018 34368 10148 18868 30764 126674 25776 6458 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 167 2 9 2 0 16 118 14 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8236 3800 12036 6 0 6 0.000727979 0 0.000498256 0.000727979 0 0.000498256 59 transversion C A C>A 0.984 0.528 L Leu CTG 0.404 M Met ATG 1.000 400 13 8 Zebrafish 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 353.86 0.00 Deleterious 0.04 3.II 255 PASS . . . . . . 0.0002 0.0014 . . . . . CWC25:NM_017748:exon10:c.C1198A:p.L400M . . 0.4923077 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.709 . @ . . . . . 1 0.751 . . 65.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . 0.4041 0.359 0.404 c . . . . . 6.402e-04 . . . 0 0.0005 0.0003 0 0.0003 0.0007 0 0.0004 0 0.0006 0.0004 0 0.0011 0.0009 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.329 0.0002 . . . 0.41 0.39 182 ENSG00000108296 CWC25 CWC25 . . . 0.879 0.255 . 34 0.00052327 64976 33 0.000550128 59986 Uncertain_significance . 0 . 0.439 . . . . T 0.199 0.007 . . 37 . 0.587 . . 0.602 . . . 0.681 0.473 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.764 . . 0.666 . . . . . . 0 . . . . . . 0.073 . 0.550 . HET 0.04 rs200827941 . . . . . . . . . . . . III.44 0.0 . 5.V II.93 . 0.010000 . . . . 0.000498 . 0.505 . . II.93 6.542e-05 0.0006 0.0003 0.0002 0 0.0005 0.0009 0.0011 0.0006 0.0001 0.0006 0 0 0 0.0006 0.0011 0 . . 0.730 . 1.363 1.363000 . . 0.010000 . . 1.0E-255 0.995 0.385 . 0.750 0.936 . 0.301 . 0.713 1.363 0.069 0.0007 . . rs200827941 rs200827941 1 1538 10 1/0 0,255,255 +rs549906574 17 36982086 T C - CWC25 25989 CWC25 spliceosome-associated protein homolog NM_017748.4 -1 3103 1278 NP_060218.1 Q9NXE8 substitution upstream GRCh37 36982086 36982086 Chr17(GRCh37):g.36982086T>C -650 -650 NM_017748.4:c.-650A>G p.? p.? 1 -668 5' 87.1266 10.0978 0.929998 XI.86 87.1266 10.0978 0.929998 XI.86 0 rs549906574 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.002300 0.005100 0.000000 0.009900 0.002900 0.008813 0.002063 0.003580 0.016556 0.000000 0.000000 0.013616 0.008883 0.010101 0.016556 276 18 3 5 0 0 209 31 10 31316 8724 838 302 1622 0 15350 3490 990 0.000192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000391 0.000000 0.000000 3 0 0 0 0 0 3 0 0 270 18 3 5 0 0 203 31 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 0.367 255 PASS . . . . . 0.0023 0.004 0.0029 . 0.0099 0.0051 . . . . . 0.47619048 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . . . . . . . . . 0.9716 . . . . . . . . 3.350e-03 . . . 0 0 . 0 . . . . . 0 . . . . . . . . . . . . upstream upstream upstream . . . 0.0040 . . . . . . . . . . . . . . . 652 0.0100345 64976 632 0.0105358 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs549906574 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 . 0 0 . 0.0021 0.0089 0.0036 0.0166 0 0.0089 0.0139 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs549906574 17 36982086 T C - MIR4727 41709 MicroRNA 4727 NR_039880.1 1 55 0 substitution upstream GRCh37 36982086 36982086 Chr17(GRCh37):g.36982086T>C -5 -5 NR_039880.1:n.-5T>C p.? p.? 1 rs549906574 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.002300 0.005100 0.000000 0.009900 0.002900 0.008813 0.002063 0.003580 0.016556 0.000000 0.000000 0.013616 0.008883 0.010101 0.016556 276 18 3 5 0 0 209 31 10 31316 8724 838 302 1622 0 15350 3490 990 0.000192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000391 0.000000 0.000000 3 0 0 0 0 0 3 0 0 270 18 3 5 0 0 203 31 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 0.367 255 PASS . . . . . 0.0023 0.004 0.0029 . 0.0099 0.0051 . . . . . 0.47619048 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . . . . . . . . . 0.9716 . . . . . . . . 3.350e-03 . . . 0 0 . 0 . . . . . 0 . . . . . . . . . . . . upstream upstream upstream . . . 0.0040 . . . . . . . . . . . . . . . 652 0.0100345 64976 632 0.0105358 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs549906574 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 . 0 0 . 0.0021 0.0089 0.0036 0.0166 0 0.0089 0.0139 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs185471109 17 37253051 A G - PLXDC1 20945 Plexin domain containing 1 NM_020405.4 -1 6252 1503 NP_065138.2 Q8IUK5 substitution intron GRCh37 37253051 37253051 Chr17(GRCh37):g.37253051A>G 811+9056 811+9056 NM_020405.4:c.811+9056T>C p.? p.? 7 7 606826 9056 5' 95.6376 X.36 0.996084 XII.48 95.6376 X.36 0.996084 XII.48 0 rs185471109 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.001500 0.003100 0.000000 0.008900 0.004300 0.005715 0.000687 0.004773 0.003311 0.000000 0.000000 0.010196 0.002577 0.004090 0.010196 177 6 4 1 0 0 153 9 4 30970 8734 838 302 1620 0 15006 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 177 6 4 1 0 0 153 9 4 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition T C T>C 0.000 -0.117 255 PASS 0.002 0.0032 0.01 . 0.004 0.0015 0.0034 0.0043 . 0.0089 0.0031 . . . . . 0.45238096 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||PLXDC1|mRNA|CODING|NM_020405|) . . . . . . . 0.0206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0034 . . . 0.33 0.18 182 ENSG00000263818 . PLXDC1 . . . . . . 521 0.00801835 64976 504 0.00840196 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185471109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0057 0.0048 0.0033 0 0.0026 0.0102 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs185471109 rs185471109 1 1538 10 1/0 0,255,255 +. 17 37296243 T G - PLXDC1 20945 Plexin domain containing 1 NM_020405.4 -1 6252 1503 NP_065138.2 Q8IUK5 substitution intron GRCh37 37296243 37296243 Chr17(GRCh37):g.37296243T>G 77-158 77-158 NM_020405.4:c.77-158A>C p.? p.? 2 1 606826 -158 3' 86.371 XI.69 0.994677 XI.86 86.371 XI.69 0.994677 XI.86 0 transversion A C A>C 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.5263158 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . INTRON(MODIFIER||||PLXDC1|mRNA|CODING|NM_020405|) . . . . . . . 0.2457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000161381 PLXDC1 PLXDC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149927735 17 38938736 G A - KRT27 30841 Keratin 27 NM_181537.3 -1 1612 1380 NP_853515.2 Q7Z3Y8 substitution missense exon GRCh37 38938736 38938736 Chr17(GRCh37):g.38938736G>A 10 10 NM_181537.3:c.10C>T p.Arg4Cys p.Arg4Cys 1 616676 -435 5' 94.6711 X.63 0.998184 3.80149 94.6711 X.63 0.998184 3.80149 0 rs149927735 yes no Frequency 1 G 0.000000 0 0.000093 0.000000 0.000000 0.001114 0.000000 0.000000 0.000091 0.000048 0.000194 0.001114 19 0 0 9 0 0 8 1 1 204488 18886 26708 8080 13744 23158 87746 21008 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 0 9 0 0 8 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4396 12982 2 0 2 0.000232883 0 0.000154036 0.000232883 0 0.000154036 29 transition C T C>T 0.094 0.609 R Arg CGC 0.190 C Cys TGC 0.552 4 11 10 Dog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C55 26.00 177.62 Deleterious 0 III.67 bad 4.911E-5 0.0002231 255 PASS . . . . . . . . . . . ENSG00000171446:ENST00000301656:exon1:c.C10T:p.R4C KRT27:uc002hvg.3:exon1:c.C10T:p.R4C KRT27:NM_181537:exon1:c.C10T:p.R4C . . 0.5730337 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.539 . @ . . . . . 1 0.785 . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R4C|KRT27|mRNA|CODING|NM_181537|NM_181537.ex.1) . 0.0002 0.0002 . 0.0002 0.0002 . -0.0678 0.005 -0.068 c . . . . . 7.979e-05 . . . 0 0.0002 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.842 . . exonic exonic exonic . . 0.382 @ . . . 0.16 0.27 182 ENSG00000171446 KRT27 KRT27 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.410 . . . . D 0.822 0.139 . . 37 . 0.810 . . 0.812 . . . 0.631 0.331 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.679 . . 0 0 0 0 0 0 . 0.226 . . 0.210 . . . . . . 0 0.574 . . . . . 0.104 . 0.376 . HET 0.02 rs149927735 . . . . . . . . . . . . IV.18 0.0 ENST00000301656 V.59 III.43 . 0.070000 Q7Z3Y8 . . . 0.000154 . 0.289 . . III.43 0 0.0001 0 0.0012 0 5.709e-05 9.622e-05 0.0002 0 0 3.23e-05 0 0 0 0 6.668e-05 0 . . 0.185 . 1.431 1.431000 . . 0.070000 . . 1.0E-255 0.067 0.218 . 0.318 0.878 . 0.200 . 0.713 1.431 -0.045 0.0002 . . rs149927735 rs149927735 1 1538 10 1/0 0,255,255 +rs201760882 17 39021257 A T - KRT12 6414 Keratin 12 NM_000223.3 -1 1992 1485 NP_000214.1 Q99456 substitution intron GRCh37 39021257 39021257 Chr17(GRCh37):g.39021257A>T 651-43 651-43 NM_000223.3:c.651-43T>A p.? p.? 3 2 601687 -43 3' 87.7713 8.82766 0.960477 12.0948 87.7713 8.82766 0.960477 XI.06 0 New Acceptor Site 39021255 4.93742 0.009496 74.4776 39021258 -5.96791 rs201760882 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001778 0.000250 0.000494 0.000394 0.000000 0.000162 0.003283 0.001439 0.001239 0.003283 492 6 17 4 0 5 415 37 8 276780 24014 34410 10152 18848 30778 126400 25720 6458 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 486 6 17 4 0 5 411 35 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4405 12980 25 1 26 0.00290698 0.000226963 0.00199908 0.00290698 0.000226963 0.00199908 31 transversion T A T>A 0.000 -0.602 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.51648355 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . INTRON(MODIFIER||||KRT12|mRNA|CODING|NM_000223|) 0.0002 0.002 0.0029 0.0002 0.002 0.0029 . 0.0920 . . . . . . . . 1.657e-03 . . . 0.0003 0.0013 0.0005 0 0.0008 0.0025 0.0014 0.0001 0.0002 0.0014 0.0005 0 0.0008 0.0024 0 0.0001 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.3 0.31 182 ENSG00000187242 KRT12 KRT12 . . . . . . 88 0.00135435 64976 86 0.00143367 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.001999 . . . . . 0.0002 0.0015 0.0004 0.0004 0 0.0013 0.0029 0.0009 0.0002 0.0003 0.0036 0.0024 0 0 0.0020 0.0065 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . . rs201760882 rs201760882 1 1538 10 1/0 0,255,255 +. 17 39324229 T TGCAGCAGGTGGTCAG - KRTAP4-3 18908 Keratin associated protein 4-3 NM_033187.1 -1 942 588 NP_149443.1 Q9BYR4 insertion in-frame exon GRCh37 39324229 39324230 Chr17(GRCh37):g.39324229_39324230insGCAGCAGGTGGTCAG 195 196 NM_033187.1:c.195_196insCTGACCACCTGCTGC p.Cys65_Arg66insLeuThrThrCysCys p.Cys65_Arg66insLeuThrThrCysCys 1 Keratin, high sulphur B2 rs747800907 no no 0 0.000000 0 4927 1746 6673 951 169 1120 0.16179 0.0882507 0.143719 0.16179 0.0882507 0.143719 4 COSM5445846|COSM1383099|COSM1383099|COSM1383099|COSM1383099 Thyroid|Stomach|Lung|Large intestine|Central nervous system 0.002677|0.002323|0.000418|0.002252|0.001259 747|861|2394|2220|2383 CTGACCACCTGCTGC 255 Pass . . . . . . . . . . . ENSG00000196156:ENST00000391356:exon1:c.195_196insCTGACCACCTGCTGC:p.R66delinsLTTCCR KRTAP4-3:uc010cxl.3:exon1:c.195_196insCTGACCACCTGCTGC:p.R66delinsLTTCCR KRTAP4-3:NM_033187:exon1:c.195_196insCTGACCACCTGCTGC:p.R66delinsLTTCCR . . 0.2451613 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 155 . . STOP_GAINED(HIGH||tgc/tgCTGACCACCTGCTGCc|C65C*PPAA|KRTAP4-3|mRNA|CODING|NM_033187|NM_033187.ex.1) 0.067 0.13 0.16 0.068 0.13 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000196156 KRTAP4-3 KRTAP4-3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747800907 . . . . . . ID\x3dCOSM1383099\x3bOCCURENCE\x3d11(large_intestine) . . . . . . . . . . . . . . . . 0.132381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . . . 1 1538 10 1.I 0,9,61 +rs2320230 17 39340852 G A - KRTAP4-1 18907 Keratin associated protein 4-1 NM_033060.2 -1 739 384 NP_149049.1 substitution intron GRCh37 39340852 39340852 Chr17(GRCh37):g.39340852G>A 239+16 239+16 NM_033060.2:c.239+16C>T p.? p.? 1 1 16 5' 36.4581 0 4.9e-05 0 36.4581 0 4.9e-05 0 0 rs2320230 yes no Frequency/1000G 2 G 0.000000 0 0.583267 0.585500 0.647200 0.553600 0.570600 0.550400 0.002174 0.001856 0.001487 0.001806 0.001408 0.002654 0.002638 0.001672 0.000693 0.002654 536 38 47 16 25 74 294 38 4 246500 20470 31602 8858 17754 27878 111440 22728 5770 0.001923 0.001759 0.001392 0.001806 0.001127 0.002583 0.002261 0.001320 0.000693 237 18 22 8 10 36 126 15 2 62 2 3 0 5 2 42 8 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.843 -0.198 255 PASS 0.68 0.72 0.79 0.76 0.7 0.59 0.58 0.55 0.55 0.57 0.65 ENSG00000198443:ENST00000398472:exon1:c.C255T:p.R85R . . . . 0.7848101 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||KRTAP4-1|mRNA|CODING|NM_033060|) . . . . . . . 0.8233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic intronic . . . 0.4167 . . . 0.13 0.2 182 ENSG00000198443 KRTAP4-1 KRTAP4-1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2320230 0.011 0.029 . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . 0.0031 0.0025 0.0015 0.0019 0.0015 0.0020 0.0030 0.0008 0.0027 0 3.36e-05 0 0 0 0 6.941e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.79 rs2320230 rs2320230 rs2320230 rs2320230 1 1538 10 1/0 0,255,255 +. 17 39346424 TGTG T - KRTAP9-1 18912 Keratin associated protein 9-1 NM_001190460.1 1 753 753 NP_001177389.1 A8MXZ3 deletion in-frame exon GRCh37 39346426 39346428 Chr17(GRCh37):g.39346426_39346428del 288 290 NM_001190460.1:c.288_290del p.Gly97del p.Gly97del 1 rs376633756 yes no Frequency 1 0.000000 0 0.000005 0.000000 0.000000 0.000145 0.000000 0.000000 0.000000 0.000000 0.000000 0.000145 1 0 0 1 0 0 0 0 0 214156 19714 23620 6906 14646 25978 97290 21026 4976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes TGG 255 Pass . . . . . . . . . . . . KRTAP9-1:uc021txf.1:exon1:c.287_289del:p.96_97del KRTAP9-1:NM_001190460:exon1:c.287_289del:p.96_97del . . 0.10650887 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 169 . . CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||tgtggc/tgc|CG96C|KRTAP9-1|mRNA|CODING|NM_001190460|NM_001190460.ex.1) . . . . . . . . . . . . . . . . 1.106e-04 . . . 0 8.762e-05 0 0.0003 0.0005 0.0001 0 0 0 4.668e-05 0 0 0.0003 6.16e-05 0 0 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000240542 KRTAP9-1 KRTAP9-1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs376633756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.448e-06 0 0.0002 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs376633756 rs376633756 1 1538 10 1.I 0,4,97 +rs753993964 17 39346432 A G - KRTAP9-1 18912 Keratin associated protein 9-1 NM_001190460.1 1 753 753 NP_001177389.1 A8MXZ3 substitution synonymous exon GRCh37 39346432 39346432 Chr17(GRCh37):g.39346432A>G 294 294 NM_001190460.1:c.294A>G p.Gln98= p.Gln98Gln 1 rs753993964 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000000 0.000212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000212 1 0 0 1 0 0 0 0 0 149626 9552 19544 4720 11370 20922 65046 15150 3322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 231 Exomes transition A G A>G 0.134 -0.037 Q Gln CAA 0.256 Q Gln CAG 0.744 98 181 PASS . . . . . . . . . . . ENSG00000240542:ENST00000398470:exon1:c.A294G:p.Q98Q KRTAP9-1:uc021txf.1:exon1:c.A294G:p.Q98Q KRTAP9-1:NM_001190460:exon1:c.A294G:p.Q98Q . . 0.115606934 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 173.0 . . SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q98|KRTAP9-1|mRNA|CODING|NM_001190460|NM_001190460.ex.1) . . . . . . . 0.1603 . . . . . . . . 1.106e-04 . . . 0 0.0001 0 0.0004 0.0006 0.0002 0 0 0 7.088e-05 0 0 0.0005 9.3e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000240542 KRTAP9-1 KRTAP9-1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs753993964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.683e-06 0 0.0002 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +rs71371478 17 39383027 G T - KRTAP9-2 16926 Keratin associated protein 9-2 NM_031961.2 1 1005 525 NP_114167.2 Q9BYQ4 substitution missense exon GRCh37 39383027 39383027 Chr17(GRCh37):g.39383027G>T 121 121 NM_031961.2:c.121G>T p.Ala41Ser p.Ala41Ser 1 Keratin, high sulphur B2 protein rs71371478 yes no Frequency 1 0.000000 0 0.002804 0.001056 0.001563 0.000102 0.000769 0.000279 0.000408 0.025843 0.000522 0.025843 706 23 46 1 13 8 48 564 3 251746 21774 29434 9758 16904 28664 117646 21824 5742 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 706 23 46 1 13 8 48 564 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM221831|COSM221831|COSM221831|COSM221831|COSM221831|COSM221831|COSM221831 Thyroid|Skin|Prostate|Pancreas|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.001339|0.000812|0.000567|0.000576|0.000448|0.000578|0.000567 747|1232|1764|1736|2231|1729|3530 transversion G T G>T 0.945 -0.117 A Ala GCC 0.403 S Ser TCC 0.220 41 8 1 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 221.66 0.00 Tolerated 1 III.50 good 9.981E-1 0.004671 209 PASS . . . . . . . . . . . . KRTAP9-2:uc002hwf.3:exon1:c.G121T:p.A41S KRTAP9-2:NM_031961:exon1:c.G121T:p.A41S . . 0.18181819 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.002 . . 110.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A41S|KRTAP9-2|mRNA|CODING|NM_031961|NM_031961.ex.1) . . . . . . . -2.6381 -2.553 -2.638 c . . . . . 1.721e-03 . . . 0.0019 0.0013 0.0008 0.0020 0.0011 0.0015 0 0.0007 0.0009 0.0005 0.0006 0.0011 0.0006 0.0003 0 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.054 @ . . . 0.16 0.16 182 ENSG00000239886 KRTAP9-2 KRTAP9-2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.040 0.002 . . 37 . 0.003 . . 0.392 . . . 0.010 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.138 . 0.117 . HET 0.99 . . . . . . . . . . . . . 5.0512 2.68E-4 . II.86 -2.81 . 1.000000 Q9BYQ4 . . . . . 0.037 . . . 0.0003 0.0028 0.0015 0 0.0003 0.0287 0.0002 0.0002 0.0003 0.0025 0.0030 0.0035 0.0041 0.0070 0.0036 0.0028 0.0028 . . 0.133 . -1.243 -1.243000 . . 1.000000 . . 1.0E-209 0.000 0.063 . 0.185 0.962 . 0.008 . 0.000 -1.243 -1.709 . . rs71371478 rs71371478 rs71371478 1 1538 10 1/0 0,230,255 +rs71371479 17 39383041 C T - KRTAP9-2 16926 Keratin associated protein 9-2 NM_031961.2 1 1005 525 NP_114167.2 Q9BYQ4 substitution synonymous exon GRCh37 39383041 39383041 Chr17(GRCh37):g.39383041C>T 135 135 NM_031961.2:c.135C>T p.Ser45= p.Ser45Ser 1 Keratin, high sulphur B2 protein rs71371479 yes no Frequency 1 0.000000 0 0.001242 0.000266 0.000066 0.000000 0.000114 0.000034 0.000116 0.013040 0.000503 0.013040 322 6 2 0 2 1 14 294 3 259220 22532 30436 9904 17580 29300 120962 22546 5960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 322 6 2 0 2 1 14 294 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1128713|COSM1128713 Prostate|Large intestine 0.000567|0.000896 1764|2231 transition C T C>T 0.992 1.658 S Ser TCC 0.220 S Ser TCT 0.185 45 191 PASS . . . . . . . . . . . . KRTAP9-2:uc002hwf.3:exon1:c.C135T:p.S45S KRTAP9-2:NM_031961:exon1:c.C135T:p.S45S . . 0.13725491 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 102.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S45|KRTAP9-2|mRNA|CODING|NM_031961|NM_031961.ex.1) . . . . . . . 1.0330 . . . . . . . . 5.133e-04 . . . 0.0007 0.0004 8.803e-05 0.0005 0.0003 0.0004 0 0.0002 0.0001 8.657e-05 0 0.0003 0.0002 3.779e-05 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.09 0.19 182 ENSG00000239886 KRTAP9-2 KRTAP9-2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . ID\x3dCOSM1128713\x3bOCCURENCE\x3d1(prostate) . . . . . . . . . . . . . . . . . . . . . II.85 0 0.0013 3.354e-05 0 0 0.0146 1.841e-05 0.0002 3.413e-05 0.0008 0.0011 0.0016 0 0.0016 0.0015 0.0010 0.0025 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . rs71371479 rs71371479 rs71371479 1 1538 10 1/0 0,229,255 +rs756192956 17 39383377 C A - KRTAP9-2 16926 Keratin associated protein 9-2 NM_031961.2 1 1005 525 NP_114167.2 Q9BYQ4 substitution synonymous exon GRCh37 39383377 39383377 Chr17(GRCh37):g.39383377C>A 471 471 NM_031961.2:c.471C>A p.Thr157= p.Thr157Thr 1 Nematoda metallothionein, family 6 Keratin, high sulphur B2 protein rs756192956 yes no Frequency 1 0.000000 0 0.000052 0.000044 0.000029 0.000403 0.000000 0.000000 0.000049 0.000079 0.000000 0.000403 14 1 1 4 0 0 6 2 0 270498 22762 34306 9924 18726 30728 122406 25332 6314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 1 4 0 0 6 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 1.000 1.658 T Thr ACC 0.361 T Thr ACA 0.280 157 204 PASS . . . . . . . . . . . . KRTAP9-2:uc002hwf.3:exon1:c.C471A:p.T157T KRTAP9-2:NM_031961:exon1:c.C471A:p.T157T . . 0.17037037 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 135.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acA|T157|KRTAP9-2|mRNA|CODING|NM_031961|NM_031961.ex.1) . . . . . . . 0.5458 . . . . . . . . 1.899e-04 . . . 0 0.0002 0.0003 0 0.0003 0.0003 0.0016 6.534e-05 0 0.0001 0.0002 0 0.0002 0.0002 0.0016 6.564e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.17 0.18 182 ENSG00000239886 KRTAP9-2 KRTAP9-2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.IV 0 4.154e-05 2.987e-05 0.0004 0 4.57e-05 3.701e-05 0 0 0.0001 0.0001 0 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs71383391 rs71383391 1 1538 10 1/0 0,220,255 +rs748536050 17 39383403 C A - KRTAP9-2 16926 Keratin associated protein 9-2 NM_031961.2 1 1005 525 NP_114167.2 Q9BYQ4 substitution missense exon GRCh37 39383403 39383403 Chr17(GRCh37):g.39383403C>A 497 497 NM_031961.2:c.497C>A p.Ser166Tyr p.Ser166Tyr 1 Nematoda metallothionein, family 6 Keratin, high sulphur B2 protein rs748536050 yes no Frequency 1 0.000000 0 0.000221 0.000503 0.000060 0.000313 0.000709 0.000728 0.000059 0.000000 0.000000 0.000728 58 11 2 3 13 22 7 0 0 262680 21880 33584 9590 18332 30224 118072 24890 6108 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 11 2 3 13 22 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6419616 Thyroid 0.001339 747 transversion C A C>A 0.441 1.013 S Ser TCC 0.220 Y Tyr TAC 0.562 166 8 6 Platypus -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 353.86 0.00 Deleterious 0 III.50 bad 9.173E-5 9.72E-5 223 PASS . . . . . . . . . . . . KRTAP9-2:uc002hwf.3:exon1:c.C497A:p.S166Y KRTAP9-2:NM_031961:exon1:c.C497A:p.S166Y . . 0.22137405 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.320 . @ . . . . . 1 0.326 . . 131.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S166Y|KRTAP9-2|mRNA|CODING|NM_031961|NM_031961.ex.1) . . . . . . . -0.0352 -0.229 -0.035 c . . . . . 4.201e-04 . . . 0.0019 0.0006 0.0003 0.0012 0.0004 0.0002 0 0.0010 0.0019 0.0004 0.0001 0.0005 0.0002 0.0001 0.0020 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.301 @ . . . 0.15 0.25 182 ENSG00000239886 KRTAP9-2 KRTAP9-2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.080 0.003 . . 37 . 0.058 . . 0.212 . . . 0.666 0.200 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.670 . . 0 0 0 0 0 0 . 0.550 . . 0.497 . . . . . . 0 0.465 . . . . . 0.488 . 0.469 . HET 0.04 . . . . . . . . . . . . . XI.33 . . II.61 II.61 . 0.050000 Q9BYQ4 . . . . . 0.123 . . II.61 0.0006 0.0002 6.104e-05 0.0003 0.0007 0 5.756e-05 0 0.0007 0.0002 0.0002 0 0 0.0013 0 7.23e-05 0 . . 0.133 . 1.766 1.766000 . . 0.050000 . . 1.0E-223 0.001 0.137 . 0.254 0.609 . 0.240 . 0.118 1.766 -0.064 . . . rs68104410 rs68104410 1 1538 10 1/0 0,226,255 +rs531947823 17 39394687 C G - KRTAP9-8 17231 Keratin associated protein 9-8 NM_031963.2 1 987 480 NP_114169.2 Q9BYQ0 substitution synonymous exon GRCh37 39394687 39394687 Chr17(GRCh37):g.39394687C>G 384 384 NM_031963.2:c.384C>G p.Pro128= p.Pro128Pro 1 Nematoda metallothionein, family 6 Keratin, high sulphur B2 protein rs531947823 yes no Frequency/1000G 2 0.000000 0 0.004992 0.017400 0.001000 0.000000 0.000000 0.001400 0.002042 0.020815 0.000785 0.000099 0.000691 0.000292 0.000470 0.000194 0.000938 0.020815 557 437 27 1 13 9 59 5 6 272774 20994 34380 10114 18824 30774 125568 25726 6394 0.000535 0.006764 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000313 73 71 0 0 0 0 1 0 1 411 295 27 1 13 9 57 5 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.984 0.125 P Pro CCC 0.328 P Pro CCG 0.115 128 193 PASS . . . . . 0.017 0.005 0.0014 . . 0.001 ENSG00000187272:ENST00000254072:exon1:c.C384G:p.P128P KRTAP9-8:uc002hwh.4:exon1:c.C384G:p.P128P KRTAP9-8:NM_031963:exon1:c.C384G:p.P128P . . 0.14285715 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . 0.3885 . . . . . . . . 2.227e-03 . . . 0.0232 0.0029 0.0010 0.0007 0 0.0006 0.0028 0.0004 0.0227 0.0021 0.0010 0.0004 0.0002 0.0004 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0050 . . . 0.32 0.1 182 ENSG00000187272 KRTAP9-8 KRTAP9-8 . . . . . . 34 0.00052327 64976 13 0.000216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs531947823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0223 0.0017 0.0008 0.0001 0.0006 0.0002 0.0004 0.0009 0.0003 0.0177 0.0048 0 0 0.0013 0 0.0007 0.0011 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs74803655 rs74803655 1 1538 10 1/0 0,230,255 +. (chr17:39427727 T/A) 17 39427727 T A Not on a known gene +. 17 39507147 CT C - KRT33A 6450 Keratin 33A, type I NM_004138.3 -1 1287 1215 NP_004129.2 O76009 deletion upstream GRCh37 39507148 39507148 Chr17(GRCh37):g.39507148del -129 -129 NM_004138.3:c.-129del p.? p.? 1 602761 -477 5' 90.3122 9.15773 0.990058 6.86576 90.3122 9.15773 0.990058 6.86576 0 rs878868064 no no 0 T 0.000000 0 0.008682 0.008612 0.010000 0.018182 0.009202 0.000000 0.008494 0.005396 0.013514 0.018182 180 52 4 4 12 0 94 6 8 20732 6038 400 220 1304 0 11066 1112 592 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 47 Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.24074075 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 54 . . UPSTREAM(MODIFIER||||KRT33A|mRNA|CODING|NM_004138|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . . . . . . . . ENSG00000006059 KRT33A KRT33A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0086 0.0087 0.01 0.0182 0.0092 0.0054 0.0085 0.0135 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,62 +rs117706286 17 39593638 G C - KRT38 6456 Keratin 38 NM_006771.3 -1 2837 1371 NP_006762.3 O76015 substitution 3'UTR GRCh37 39593638 39593638 Chr17(GRCh37):g.39593638G>C *26 *26 NM_006771.3:c.*26C>G p.? p.? 7 604542 156 3' 90.3894 XI.77 0.950436 14.9872 90.3894 XI.77 0.950436 14.9872 0 New Donor Site 39593639 9.08182 0.89205 81.8924 rs117706286 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000800 0.001000 0.000000 0.005000 0.000000 0.002208 0.000417 0.001203 0.000000 0.000000 0.002997 0.003292 0.000968 0.001615 0.003292 435 8 21 0 0 55 322 22 7 196970 19174 17458 5568 11554 18352 97804 22726 4334 0.000030 0.000000 0.000000 0.000000 0.000000 0.000218 0.000000 0.000088 0.000000 3 0 0 0 0 2 0 1 0 429 8 21 0 0 51 322 20 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4404 12977 27 2 29 0.00313953 0.000453926 0.00222974 0.00313953 0.000453926 0.00222974 20 transversion C G C>G 0.000 -0.117 255 PASS 0.002 0.0018 . . 0.004 0.0008 0.0014 . . 0.005 0.001 . . . . . 0.5365854 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . UTR_3_PRIME(MODIFIER||||KRT38|mRNA|CODING|NM_006771|NM_006771.ex.7) 0.0005 0.0022 0.0031 0.0005 0.0022 0.0031 . -0.2593 . . . . . . . . 1.997e-03 . . . 0.0006 0.0023 0.0011 0 0.0010 0.0030 0.0020 0.0042 0.0004 0.0021 0.0011 0 0.0010 0.0027 0 0.0042 . . . . . . UTR3 UTR3 UTR3 . . . 0.0014 . . . 0.44 0.72 182 ENSG00000171360 KRT38 KRT38 ENST00000246646:c.*26C>G uc002hwq.1:c.*26C>G NM_006771:c.*26C>G . . . 112 0.00172371 64976 105 0.00175041 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117706286 . . . . . . . . . . . . . . . . . . . . . . . 0.002230 . . . . . 0.0004 0.0020 0.0012 0 0 0.0009 0.0029 0.0012 0.0030 0.0005 0.0032 0.0012 0 0 0.0011 0.0057 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs117706286 rs117706286 1 1538 10 1/0 0,255,255 +rs140333312 17 40010572 G A - KLHL11 19008 Kelch-like family member 11 NM_018143.2 -1 7410 2127 NP_060613.1 Q9NVR0 substitution missense exon GRCh37 40010572 40010572 Chr17(GRCh37):g.40010572G>A 1547 1547 NM_018143.2:c.1547C>T p.Thr516Ile p.Thr516Ile 2 1002 3' 89.7214 XI.87 0.98941 5.99754 89.7214 XI.87 0.98941 5.99754 0 rs140333312 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000800 0.002000 0.000000 0.007000 0.000000 0.004921 0.000375 0.000174 0.003550 0.000000 0.000877 0.004443 0.026367 0.006652 0.026367 1363 9 6 36 0 27 562 680 43 276966 24030 34412 10140 18870 30776 126484 25790 6464 0.000094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000853 0.000309 13 0 0 0 0 0 1 11 1 1337 9 6 36 0 27 560 658 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4406 12973 33 0 33 0.00383721 0 0.00253729 0.00383721 0 0.00253729 78 transition C T C>T 0.984 1.335 T Thr ACT 0.243 I Ile ATT 0.356 516 12 8 Cow -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C15 74.82 89.28 Deleterious 0.01 IV.32 255 PASS 0.002 0.0037 . . 0.01 0.0008 0.002 . . 0.007 0.002 ENSG00000178502:ENST00000319121:exon2:c.C1547T:p.T516I KLHL11:uc002hyf.1:exon2:c.C1547T:p.T516I KLHL11:NM_018143:exon2:c.C1547T:p.T516I . . 0.51724136 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.410 . @ . . . . . 1 0.592 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T516I|KLHL11|mRNA|CODING|NM_018143|NM_018143.ex.2) . 0.0025 0.0038 . 0.0025 0.0038 . -0.1636 0.050 -0.164 c . . . . . 5.122e-03 . . . 0.0004 0.0035 0.0003 0 0.0331 0.0039 0.0070 0.0010 0.0002 0.0051 0.0002 0 0.0302 0.0058 0.0115 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.682 . . exonic exonic exonic . . 0.488 0.0020 . . . 0.56 0.32 182 ENSG00000178502 KLHL11 KLHL11 . . . 0.100 0.164 . 347 0.00534043 64976 337 0.00561798 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.347 . . 0.483 . . . 0.170 0.349 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.176 . . 0.139 . . . . . . 0 0.299 . . . . . 0.255 . 0.109 . HET 0.11 . 0.011 0.007 . . . . . 0.003663003663003663 0.0020325203252032522 0.0 0.0 0.009234828496042216 VII.86 0.0 . V.26 IV.21 . 0.000000 Q9NVR0 . . . 0.002537 . 0.450 . . IV.21 0.0005 0.0046 0.0002 0.0036 0 0.0255 0.0041 0.0049 0.0009 0.0002 0.0077 0 0.0033 0 0.0321 0.0073 0.0163 . . 0.310 . 2.606 2.606000 . . 0.000000 . . 1.0E-255 0.987 0.361 . 0.888 0.991 . 0.416 . 0.416 2.606 -0.044 0.011 . . rs140333312 rs140333312 1 1538 10 1/0 0,255,255 +rs117342079 17 40128938 G A - CNP 2158 2',3'-cyclic nucleotide 3' phosphodiesterase NM_033133.4 1 5222 1266 NP_149124.3 P09543 substitution 3'UTR GRCh37 40128938 40128938 Chr17(GRCh37):g.40128938G>A *2996 *2996 NM_033133.4:c.*2996G>A p.? p.? 4 123830 3446 3' 84.2591 XII.04 0.982909 13.8208 84.2591 XII.04 0.982909 13.8208 0 rs117342079 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.003100 0.000000 0.010900 0.001400 0.004332 0.001263 0.001193 0.006623 0.000617 0.000000 0.007604 0.000573 0.003055 0.007604 134 11 1 2 1 0 114 2 3 30936 8710 838 302 1622 0 14992 3490 982 0.007463 0.000000 0.000000 0.000000 0.000000 0.000000 0.008772 0.000000 0.000000 1 0 0 0 0 0 1 0 0 132 11 1 2 1 0 112 2 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.205 255 PASS . 0.01 0.0028 . 0.01 . 0.003 0.0014 . 0.011 0.0031 . . . . . 0.5405405 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0030 . . . 0.42 0.28 182 ENSG00000173786 CNP CNP ENST00000393892:c.*2996G>A . NM_033133:c.*2996G>A . . . 407 0.00626385 64976 392 0.00653486 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0043 0.0012 0.0066 0.0006 0.0006 0.0076 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117342079 rs117342079 1 1538 10 1/0 0,255,255 +rs117342079 17 40128938 G A - DNAJC7 12392 DnaJ (Hsp40) homolog, subfamily C, member 7 NM_003315.3 -1 2078 1485 NP_003306.3 Q99615 substitution intron GRCh37 40128938 40128938 Chr17(GRCh37):g.40128938G>A 1448-150 1448-150 NM_003315.3:c.1448-150C>T p.? p.? 14 13 601964 -150 3' 91.903 12.664 0.969591 9.72809 91.903 12.664 0.969591 9.72809 0 Cryptic Acceptor Strongly Activated 40128927 3.33362 2.8e-05 57.4173 3.88855 4.6e-05 61.5192 rs117342079 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.003100 0.000000 0.010900 0.001400 0.004332 0.001263 0.001193 0.006623 0.000617 0.000000 0.007604 0.000573 0.003055 0.007604 134 11 1 2 1 0 114 2 3 30936 8710 838 302 1622 0 14992 3490 982 0.007463 0.000000 0.000000 0.000000 0.000000 0.000000 0.008772 0.000000 0.000000 1 0 0 0 0 0 1 0 0 132 11 1 2 1 0 112 2 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.205 255 PASS . 0.01 0.0028 . 0.01 . 0.003 0.0014 . 0.011 0.0031 . . . . . 0.5405405 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0030 . . . 0.42 0.28 182 ENSG00000173786 CNP CNP ENST00000393892:c.*2996G>A . NM_033133:c.*2996G>A . . . 407 0.00626385 64976 392 0.00653486 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0043 0.0012 0.0066 0.0006 0.0006 0.0076 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117342079 rs117342079 1 1538 10 1/0 0,255,255 +rs139876577 17 40253974 A G - DHX58 29517 DEXH (Asp-Glu-X-His) box polypeptide 58 NM_024119.2 -1 2617 2037 NP_077024.2 Q96C10 substitution intron GRCh37 40253974 40253974 Chr17(GRCh37):g.40253974A>G 1852-10 1852-10 NM_024119.2:c.1852-10T>C p.? p.? 14 13 608588 -10 3' 88.8839 XII.19 0.973909 13.081 85.6012 XII.87 0.945639 XII.45 -0.039909 rs139876577 yes no Frequency/1000G 2 A 0.000000 0 0.003594 0.000800 0.003100 0.000000 0.007000 0.010100 0.005211 0.001736 0.005731 0.003343 0.000057 0.001841 0.008493 0.000412 0.007406 0.008493 1327 39 182 32 1 54 964 10 45 254670 22468 31758 9572 17684 29328 113510 24274 6076 0.000079 0.000000 0.000063 0.000209 0.000000 0.000000 0.000141 0.000000 0.000000 10 0 1 1 0 0 8 0 0 1307 39 180 30 1 54 948 10 45 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8529 4397 12926 71 7 78 0.00825581 0.00158946 0.00599815 0.00825581 0.00158946 0.00599815 20 COSM5021944 Bone 0.001757 569 transition T C T>C 0.000 0.286 255 PASS . 0.0037 0.01 . 0.01 0.0008 0.0036 0.01 . 0.007 0.0031 . . . . . 0.47260273 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . INTRON(MODIFIER||||DHX58|mRNA|CODING|NM_024119|) 0.0016 0.006 0.0083 0.0016 0.006 0.0083 . 1.1587 . . . . . . . . 5.038e-03 . . . 0.0016 0.0071 0.0086 0 0.0004 0.0118 0.0146 0.0024 0.0018 0.0068 0.0087 0 0.0005 0.0108 0.0143 0.0023 . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.36 0.5 182 ENSG00000108771 DHX58 DHX58 . . . . . . 481 0.00740273 64976 463 0.00771847 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139876577 . . . . . . . . . . . . . . . . . . . . 0.0004 0.006 . 0.005998 . . . . . 0.0016 0.0052 0.0057 0.0035 0 0.0005 0.0084 0.0077 0.0018 0.0019 0.0053 0.0060 0 0.0006 0 0.0091 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs139876577 rs139876577 1 1538 10 1/0 0,242,255 +rs62001916 17 40838024 C T - CNTNAP1 8011 Contactin associated protein 1 NM_003632.2 1 5454 4155 NP_003623.1 P78357 substitution synonymous exon GRCh37 40838024 40838024 Chr17(GRCh37):g.40838024C>T 765 765 NM_003632.2:c.765C>T p.Gly255= p.Gly255Gly 6 602346 50 3' 78.741 8.84844 0.863853 10.0891 78.741 8.84844 0.863853 9.81077 0 Cryptic Donor Strongly Activated 40838022 58.3222 2.57415 0.031734 68.3867 Laminin G, subdomain 2 Laminin G, subdomain 1 Laminin G domain rs62001916 yes no Frequency/1000G 2 C 0.000000 0 0.004593 0.000800 0.003100 0.000000 0.008900 0.014400 0.005891 0.002081 0.008890 0.000591 0.000053 0.001819 0.009038 0.000465 0.008815 0.009038 1633 50 306 6 1 56 1145 12 57 277200 24032 34420 10152 18870 30782 126692 25786 6466 0.000101 0.000000 0.000058 0.000000 0.000000 0.000130 0.000158 0.000000 0.000309 14 0 1 0 0 2 10 0 1 1605 50 304 6 1 52 1125 12 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4398 12926 72 8 80 0.00837209 0.00181571 0.00615101 0.00837209 0.00181571 0.00615101 152 transition C T C>T 0.000 -4.153 G Gly GGC 0.342 G Gly GGT 0.162 255 255 PASS . 0.01 0.02 . 0.01 0.0008 0.0046 0.014 . 0.0089 0.0031 . CNTNAP1:uc002iay.3:exon6:c.C765T:p.G255G CNTNAP1:NM_003632:exon6:c.C765T:p.G255G . . 0.57425743 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . 0.0018 0.0062 0.0084 0.0018 0.0062 0.0084 . 0.0940 . . . . . . . . 5.714e-03 . . . 0.0013 0.0062 0.0093 0 0.0003 0.0097 0.0070 0.0018 0.0015 0.0057 0.0094 0 0.0005 0.0082 0.0072 0.0017 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.3 0.3 182 ENSG00000108797 CNTNAP1 CNTNAP1 . . . . . . 550 0.00846466 64976 527 0.00878538 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62001916 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006151 . . . . . 0.0017 0.0060 0.0089 0.0006 0 0.0005 0.0091 0.0086 0.0018 0.0027 0.0054 0.0095 0 0.0006 0 0.0083 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs62001916 rs62001916 rs62001916 rs62001916 1 1538 10 1/0 0,255,255 +. 17 40840512 G C - CNTNAP1 8011 Contactin associated protein 1 NM_003632.2 1 5454 4155 NP_003623.1 P78357 substitution missense exon GRCh37 40840512 40840512 Chr17(GRCh37):g.40840512G>C 1339 1339 NM_003632.2:c.1339G>C p.Val447Leu p.Val447Leu 9 602346 33 3' 89.8469 7.47468 0.912791 8.59354 89.8469 7.47468 0.912791 8.72027 0 Cryptic Acceptor Strongly Activated 40840530 3.45244 0.025102 84.9926 4.10295 0.038201 84.9926 Laminin G, subdomain 2 Laminin G, subdomain 1 Laminin G domain transversion G C G>C 1.000 5.855 V Val GTG 0.468 L Leu CTG 0.404 447 11 11 Frog 1 1 1 0 0 5.IX 4.IX 84 111 32 C25 0.00 30.92 Deleterious 0 IV.32 bad 1.843E-4 0.0001772 255 PASS . . . . . . . . . . . . CNTNAP1:uc002iay.3:exon9:c.G1339C:p.V447L CNTNAP1:NM_003632:exon9:c.G1339C:p.V447L . . 0.4755245 . . @ 68 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.639 . @ . . . . . 1 0.904 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V447L|CNTNAP1|mRNA|CODING|NM_003632|NM_003632.ex.9) . . . . . . . 0.7234 0.762 0.723 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.855 . . exonic exonic exonic . . 0.930 @ . . . . . . ENSG00000108797 CNTNAP1 CNTNAP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.718 0.073 . . 37 . 0.884 . . 0.875 . . . 0.640 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.535 . . 0 0 0 0 0 0 . 0.461 . . 0.517 . . . . . . 0 0.524 . . . . . 0.979 . 0.777 . HET 0.02 . . . . . . . . . . . . . 20.1152 . ENST00000264638 V.83 V.83 . 0.100000 P78357 . . . . . 0.981 . . V.83 . . . . . . . . . . . . . . . . . . . 0.522 . 2.750 2.750000 . . 0.100000 . . 1.0E-255 1.000 0.715 . 0.697 1.000 . 0.932 . 0.713 2.750 0.917 . . . . . 1 1538 10 1/0 0,244,255 +rs375005390 17 41168485 C G - VAT1 16919 Vesicle amine transport protein 1 homolog (T. californica) NM_006373.3 -1 2758 1182 NP_006364.2 Q99536 substitution missense exon GRCh37 41168485 41168485 Chr17(GRCh37):g.41168485C>G 937 937 NM_006373.3:c.937G>C p.Ala313Pro p.Ala313Pro 5 604631 81 3' 89.1279 IX.76 0.942988 6.62149 89.1279 IX.76 0.942988 6.62149 0 Cryptic Acceptor Strongly Activated 41168476 0.118882 4.02719 0.371322 76.1316 Alcohol dehydrogenase, C-terminal Polyketide synthase, enoylreductase rs375005390 yes no Frequency 1 C 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245824 15276 33570 9838 17248 30780 111382 22250 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 76 Exomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 49 transversion G C G>C 0.992 3.757 A Ala GCT 0.263 P Pro CCT 0.283 313 11 9 Frog -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 112.98 I.62 Tolerated 0.18 III.41 bad 5.864E-3 0.2786 255 PASS . . . . . . . . . . . . . VAT1:NM_006373:exon5:c.G937C:p.A313P . . 0.6615385 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.264 . @ . . . . . 1 0.147 . . 65.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.2244 0.023 -0.224 c . . . . . 7.893e-06 . . . 0 1.108e-05 0 0 0 2.389e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.421 . . exonic exonic exonic . . 0.849 @ . . . 0.58 0.39 182 ENSG00000108828 VAT1 VAT1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.228 0.009 . . 37 . 0.271 . . 0.131 . . . 0.090 0.548 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.184 . . 0.208 . . . . . . 1 0.010 . . . . . 0.955 . 0.709 . HET 1 rs375005390 . . . . . . . . . . . . 19.5989 0.0 . 5.VI 5.VI . 0.730000 . . . . 0.000077 . 0.644 . . 5.VI 0 8.136e-06 0 0 0 0 1.796e-05 0 0 . . . . . . . . . . 0.854 . 2.639 2.639000 . . 0.730000 . . 1.0E-255 1.000 0.715 . 0.490 0.997 . 0.622 . 0.490 2.639 0.871 0.0001 . . rs375005390 rs375005390 1 1538 10 1/0 0,255,255 +rs12944458 17 41180772 C G - RND2 18315 Rho family GTPase 2 NM_005440.4 1 4152 684 NP_005431.1 P52198 substitution 3'UTR GRCh37 41180772 41180772 Chr17(GRCh37):g.41180772C>G *75 *75 NM_005440.4:c.*75C>G p.? p.? 5 601555 324 3' 93.0163 XII.73 0.98441 13.6303 93.0163 XII.73 0.98441 13.6303 0 rs12944458 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.002752 0.000344 0.002392 0.003333 0.000000 0.000000 0.004948 0.001145 0.001022 0.004948 85 3 2 1 0 0 74 4 1 30892 8716 836 300 1614 0 14956 3492 978 0.011765 0.000000 0.000000 0.000000 0.000000 0.000000 0.013514 0.000000 0.000000 1 0 0 0 0 0 1 0 0 55 1 2 1 0 0 46 4 1 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transversion C G C>G 0.583 0.044 255 PASS . . . . . . . . . . . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . UTR_3_PRIME(MODIFIER||||RND2|mRNA|CODING|NM_005440|NM_005440.ex.5) . . . . . . . 0.4544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.3423 . . . 0.54 0.77 182 ENSG00000108830 RND2 RND2 . uc002icn.3:c.*75C>G NM_005440:c.*75C>G . . . 120 0.00184684 64976 118 0.00196713 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12944458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0028 0.0024 0.0033 0 0.0011 0.0049 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs1056067 (chr17:43590582 A/G) 17 43590582 A G Not on a known gene +. (chr17:43591830 G/A) 17 43591830 G A Not on a known gene +. (chr17:43595823 G/A) 17 43595823 G A Not on a known gene +rs201412437 (chr17:43625081 A/G) 17 43625081 A G Not on a known gene +rs3893632 (chr17:43626315 G/A) 17 43626315 G A Not on a known gene +rs200849412 (chr17:43626397 G/C) 17 43626397 G C Not on a known gene +rs2461077 (chr17:43626572 A/G) 17 43626572 A G Not on a known gene +rs3894937 (chr17:43626739 G/A) 17 43626739 G A Not on a known gene +rs201044491 (chr17:43626768 G/C) 17 43626768 G C Not on a known gene +rs192899097 17 43906533 G A - CRHR1 2357 Corticotropin releasing hormone receptor 1 NM_001145146.1 1 2664 1335 NP_001138618.1 P34998 substitution intron GRCh37 43906533 43906533 Chr17(GRCh37):g.43906533G>A 328-48 328-48 NM_001145146.1:c.328-48G>A p.? p.? 5 4 122561 -48 3' 84.376 9.90175 0.952206 7.65154 84.376 9.90175 0.952206 7.46936 0 rs192899097 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000483 0.000093 0.000032 0.000000 0.000000 0.000144 0.000922 0.000261 0.000840 0.000922 119 2 1 0 0 4 101 6 5 246228 21440 31612 9474 17460 27700 109558 23030 5954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 2 1 0 0 4 101 6 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8481 4262 12743 9 0 9 0.00106007 0 0.000705772 0.00106007 0 0.000705772 41 transition G A G>A 0.024 1.739 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.3478261 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . 0.0007 0.0011 . 0.0007 0.0011 . -0.0655 . . . . . . . . 4.450e-04 . . . 0.0001 0.0004 0 0 0 0.0009 0 0.0002 0.0002 0.0004 0 0 0 0.0007 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.3 0.36 182 ENSG00000120088 CRHR1 . . . . . . . 15 0.000230854 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000706 . . . . . 0.0002 0.0005 3.249e-05 0 0 0.0002 0.0009 0.0006 0.0001 0 0.0006 0 0 0 0.0009 0.0010 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs192899097 rs192899097 1 1538 10 1/0 0,250,255 +rs192899097 17 43906533 G A - LINC02210-CRHR1 51483 LINC02210-CRHR1 readthrough NM_001303016.1 1 2522 858 NP_001289945.1 substitution intron GRCh37 43906533 43906533 Chr17(GRCh37):g.43906533G>A 25-48 25-48 NM_001303016.1:c.25-48G>A p.? p.? 6 5 -48 3' 84.376 9.90175 0.952206 7.65154 84.376 9.90175 0.952206 7.46936 0 rs192899097 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000483 0.000093 0.000032 0.000000 0.000000 0.000144 0.000922 0.000261 0.000840 0.000922 119 2 1 0 0 4 101 6 5 246228 21440 31612 9474 17460 27700 109558 23030 5954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 2 1 0 0 4 101 6 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8481 4262 12743 9 0 9 0.00106007 0 0.000705772 0.00106007 0 0.000705772 41 transition G A G>A 0.024 1.739 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.3478261 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . 0.0007 0.0011 . 0.0007 0.0011 . -0.0655 . . . . . . . . 4.450e-04 . . . 0.0001 0.0004 0 0 0 0.0009 0 0.0002 0.0002 0.0004 0 0 0 0.0007 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.3 0.36 182 ENSG00000120088 CRHR1 . . . . . . . 15 0.000230854 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000706 . . . . . 0.0002 0.0005 3.249e-05 0 0 0.0002 0.0009 0.0006 0.0001 0 0.0006 0 0 0 0.0009 0.0010 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs192899097 rs192899097 1 1538 10 1/0 0,250,255 +rs62073179 17 44372999 C T - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44372999 44372999 Chr17(GRCh37):g.44372999C>T *43867 *43867 NM_001039083.4:c.*43867G>A p.? p.? 4 44142 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Acceptor Strongly Activated 44372980 1.86265 0.002787 71.8582 2.11644 0.003196 71.8582 rs62073179 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5406 4086 548 58 308 30 266 22 88 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4590905|COSM4590905|COSM4590905 Upper aerodigestive tract|Thyroid|Haematopoietic and lymphoid tissue 0.010450|0.001339|0.000567 1244|747|3530 transition G A G>A 0.000 -0.037 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C500T:p.T167I . . 1.0 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.068 . . 25.0 . . . . . . . . . . -1.2821 -1.350 -1.282 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.123 @ . . . 0.3 0.29 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.118 0.005 . . 37 . 0.327 . . 0.180 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.112 . . 0.040 . . . . . . 2 0.129 . . . . . 0.051 . 0.052 . HOM 0.01 rs62073179 . . . . . . . . . . . . II.31 . . 2.I -0.258 . 0.560000 A6NMS7 . . . . . 0.030 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 0 0 . . 0.428 . 0.010 0.010000 . . 0.560000 . . 1.0E-111 0.000 0.063 . 0.043 0.006 . 0.069 . 0.086 0.010 -0.316 . rs2461355 rs2461355 rs2461355 rs201781690 1 1538 255 1.I 0,0,255 +rs62073179 17 44372999 C T - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44372999 44372999 Chr17(GRCh37):g.44372999C>T 500 500 NM_014834.4:c.500C>T p.Thr167Ile p.Thr167Ile 1 616555 -2110 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 rs62073179 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5406 4086 548 58 308 30 266 22 88 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4590905|COSM4590905|COSM4590905 Upper aerodigestive tract|Thyroid|Haematopoietic and lymphoid tissue 0.010450|0.001339|0.000567 1244|747|3530 transition C T C>T 0.000 -0.037 T Thr ACA 0.280 I Ile ATA 0.163 167 9 3 Cow -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.11 IV.32 unknown 0.0 0.0 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C500T:p.T167I . . 1.0 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.068 . . 25.0 . . . . . . . . . . -1.2821 -1.350 -1.282 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.123 @ . . . 0.3 0.29 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.118 0.005 . . 37 . 0.327 . . 0.180 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.112 . . 0.040 . . . . . . 2 0.129 . . . . . 0.051 . 0.052 . HOM 0.01 rs62073179 . . . . . . . . . . . . II.31 . . 2.I -0.258 . 0.560000 A6NMS7 . . . . . 0.030 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 0 0 . . 0.428 . 0.010 0.010000 . . 0.560000 . . 1.0E-111 0.000 0.063 . 0.043 0.006 . 0.069 . 0.086 0.010 -0.316 . rs2461355 rs2461355 rs2461355 rs201781690 1 1538 255 1.I 0,0,255 +. 17 44373343 G A - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373343 44373343 Chr17(GRCh37):g.44373343G>A *43523 *43523 NM_001039083.4:c.*43523C>T p.? p.? 4 43798 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM6387789 Thyroid 0.002677 747 transition C T C>T 0.000 -0.279 187 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.G844A:p.V282I . . 0.12903225 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.305 . . 62.0 . . . . . . . . . . -0.8926 -1.090 -0.893 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.589 . . exonic exonic exonic . . 0.082 @ . . . 0.33 0.26 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.081 0.004 . . 37 . 0.414 . . 0.295 . . . 0.446 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.386 . . 0.432 . . . . . . 2 0.160 . . . . . 0.012 . 0.020 . LowAF 0.18 . . . . . . . . . . . . . 0.886 . . II.19 -1.49 . 0.300000 A6NMS7 . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.269 -0.269000 . . 0.300000 . . 1.0E-187 0.000 0.063 . 0.062 0.001 . 0.070 . 0.291 -0.269 0.373 . rs3744455 rs3744455 rs3744455 rs3744455 1 1538 10 1/0 0,249,255 +. 17 44373343 G A - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373343 44373343 Chr17(GRCh37):g.44373343G>A 844 844 NM_014834.4:c.844G>A p.Val282Ile p.Val282Ile 1 616555 -1766 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Strongly Activated 44373356 V.42 0.339518 7.61702 0.301648 81.4049 COSM6387789 Thyroid 0.002677 747 transition G A G>A 0.000 -0.279 V Val GTT 0.178 I Ile ATT 0.356 282 9 5 Elephant 3 3 4 0 0 5.IX 5.II 84 111 29 C0 266.51 0.00 Tolerated 0.68 III.36 good 7.803E-1 0.4773 187 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.G844A:p.V282I . . 0.12903225 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.305 . . 62.0 . . . . . . . . . . -0.8926 -1.090 -0.893 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.589 . . exonic exonic exonic . . 0.082 @ . . . 0.33 0.26 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.081 0.004 . . 37 . 0.414 . . 0.295 . . . 0.446 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.386 . . 0.432 . . . . . . 2 0.160 . . . . . 0.012 . 0.020 . LowAF 0.18 . . . . . . . . . . . . . 0.886 . . II.19 -1.49 . 0.300000 A6NMS7 . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.269 -0.269000 . . 0.300000 . . 1.0E-187 0.000 0.063 . 0.062 0.001 . 0.070 . 0.291 -0.269 0.373 . rs3744455 rs3744455 rs3744455 rs3744455 1 1538 10 1/0 0,249,255 +rs62066514 17 44373433 C G - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373433 44373433 Chr17(GRCh37):g.44373433C>G *43433 *43433 NM_001039083.4:c.*43433G>C p.? p.? 4 43708 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 rs62066514 yes no Frequency 1 0.000000 0 COSM328398|COSM328398 Thyroid|Pancreas 0.002677|0.000576 747|1736 transversion G C G>C 0.000 -0.117 208 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C934G:p.P312A . . 0.18032786 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.025 . . 61.0 . . . . . . . . . . -1.1391 -1.229 -1.139 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.623 . . exonic exonic exonic . . 0.114 @ . . . 0.35 0.31 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.227 0.009 . . 37 . 0.446 . . 0.366 . . . 0.540 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.161 . . . . . 0.262 . 0.234 . HET 0.02 rs62066514 . . . . . . ID\x3dCOSM328398\x3bOCCURENCE\x3d1(pancreas) . . . . . VII.05 . . I.97 -0.475 . 0.040000 A6NMS7 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.037 -0.037000 . . 0.040000 . . 9.999999999999999E-209 0.000 0.063 . 0.114 0.008 . 0.048 . 0.278 -0.037 0.493 . rs62066514 rs62066514 rs62066514 rs62066514 1 1538 10 1/0 0,255,255 +rs62066514 17 44373433 C G - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373433 44373433 Chr17(GRCh37):g.44373433C>G 934 934 NM_014834.4:c.934C>G p.Pro312Ala p.Pro312Ala 1 616555 -1676 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 rs62066514 yes no Frequency 1 0.000000 0 COSM328398|COSM328398 Thyroid|Pancreas 0.002677|0.000576 747|1736 transversion C G C>G 0.000 -0.117 P Pro CCT 0.283 A Ala GCT 0.263 312 9 6 Elephant -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 70.56 0.00 Tolerated 0.91 III.35 good 4.694E-1 0.161 208 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C934G:p.P312A . . 0.18032786 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.025 . . 61.0 . . . . . . . . . . -1.1391 -1.229 -1.139 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.623 . . exonic exonic exonic . . 0.114 @ . . . 0.35 0.31 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.227 0.009 . . 37 . 0.446 . . 0.366 . . . 0.540 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.161 . . . . . 0.262 . 0.234 . HET 0.02 rs62066514 . . . . . . ID\x3dCOSM328398\x3bOCCURENCE\x3d1(pancreas) . . . . . VII.05 . . I.97 -0.475 . 0.040000 A6NMS7 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.037 -0.037000 . . 0.040000 . . 9.999999999999999E-209 0.000 0.063 . 0.114 0.008 . 0.048 . 0.278 -0.037 0.493 . rs62066514 rs62066514 rs62066514 rs62066514 1 1538 10 1/0 0,255,255 +. 17 44373462 C T - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373462 44373462 Chr17(GRCh37):g.44373462C>T *43404 *43404 NM_001039083.4:c.*43404G>A p.? p.? 4 43679 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328399|COSM328399 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transition G A G>A 0.024 0.125 227 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C963T:p.A321A . . 0.23529412 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.2292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.3 182 ENSG00000176681 LRRC37A LRRC37A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM328399\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs3894937 rs3894937 rs3894937 rs3894937 1 1538 10 1/0 0,255,255 +. 17 44373462 C T - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution synonymous exon GRCh37 44373462 44373462 Chr17(GRCh37):g.44373462C>T 963 963 NM_014834.4:c.963C>T p.Ala321= p.Ala321Ala 1 616555 -1647 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM328399|COSM328399 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transition C T C>T 0.024 0.125 A Ala GCC 0.403 A Ala GCT 0.263 321 227 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C963T:p.A321A . . 0.23529412 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.2292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.3 182 ENSG00000176681 LRRC37A LRRC37A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM328399\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs3894937 rs3894937 rs3894937 rs3894937 1 1538 10 1/0 0,255,255 +rs200361205 17 44373716 C A - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373716 44373716 Chr17(GRCh37):g.44373716C>A *43150 *43150 NM_001039083.4:c.*43150G>T p.? p.? 4 43425 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Donor Strongly Activated 44373722 0.028758 65.3785 1.19806 0.301898 70.3973 rs200361205 no no 0 0.000000 0 transversion G T G>T 0.000 -2.297 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1217A:p.A406D . . 0.4 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.054 . . 15.0 . . . . . . . . . . -1.8480 -1.894 -1.848 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.585 . . exonic exonic exonic . . 0.043 @ . . . 0.33 0.3 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.162 . . 0.076 . . . 0.002 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.154 . . 0.063 . . . . . . 2 0.044 . . . . . 0.014 . 0.208 . HET 0.1 . . . . . . . . . . . . . 1.0026 . . I.79 -3.58 . 0.660000 A6NMS7 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -2.310 -2.310000 . . 0.660000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.016 . 0.036 -2.310 -0.872 . rs17857225 rs17857225 rs17857225 rs17857225 1 1538 10 1/0 0,255,255 +rs200361205 17 44373716 C A - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373716 44373716 Chr17(GRCh37):g.44373716C>A 1217 1217 NM_014834.4:c.1217C>A p.Ala406Asp p.Ala406Asp 1 616555 -1393 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Strongly Activated 44373716 5.13748 0.01559 67.6119 6.37984 0.073574 69.4595 rs200361205 no no 0 0.000000 0 transversion C A C>A 0.000 -2.297 A Ala GCT 0.263 D Asp GAT 0.461 406 9 1 -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 210.88 0.00 Tolerated 0.84 III.35 good 7.982E-1 0.586 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1217A:p.A406D . . 0.4 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.054 . . 15.0 . . . . . . . . . . -1.8480 -1.894 -1.848 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.585 . . exonic exonic exonic . . 0.043 @ . . . 0.33 0.3 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.162 . . 0.076 . . . 0.002 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.154 . . 0.063 . . . . . . 2 0.044 . . . . . 0.014 . 0.208 . HET 0.1 . . . . . . . . . . . . . 1.0026 . . I.79 -3.58 . 0.660000 A6NMS7 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -2.310 -2.310000 . . 0.660000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.016 . 0.036 -2.310 -0.872 . rs17857225 rs17857225 rs17857225 rs17857225 1 1538 10 1/0 0,255,255 +. 17 44373804 C G - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373804 44373804 Chr17(GRCh37):g.44373804C>G *43062 *43062 NM_001039083.4:c.*43062G>C p.? p.? 4 43337 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Acceptor Strongly Activated 44373795 0.004769 64.8245 1.16712 0.0256 67.5654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328400|COSM328400 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transversion G C G>C 0.000 -2.297 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1305G:p.H435Q . . 0.45714286 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.052 . . 35.0 . . . . . . . . . . -1.7390 -1.841 -1.739 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.595 . . exonic exonic exonic . . 0.045 @ . . . 0.33 0.34 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.257 0.010 . . 37 . 0.245 . . 0.115 . . . 0.042 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.098 . . . . . 0.000 . 0.002 . HET 0.54 . . . . . . . ID\x3dCOSM328400\x3bOCCURENCE\x3d1(pancreas) . . . . . 0.0878 . . I.71 -3.41 . 0.590000 A6NMS7 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.388 -2.388000 . . 0.590000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.010 . 0.001 -2.388 -0.744 . rs3868164 rs3868164 rs3868164 rs3868164 1 1538 10 1/0 0,255,255 +. 17 44373804 C G - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373804 44373804 Chr17(GRCh37):g.44373804C>G 1305 1305 NM_014834.4:c.1305C>G p.His435Gln p.His435Gln 1 616555 -1305 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328400|COSM328400 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transversion C G C>G 0.000 -2.297 H His CAC 0.587 Q Gln CAG 0.744 435 9 2 Chimp 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 251.61 0.00 Tolerated 0.69 III.36 good 9.343E-1 0.6162 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1305G:p.H435Q . . 0.45714286 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.052 . . 35.0 . . . . . . . . . . -1.7390 -1.841 -1.739 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.595 . . exonic exonic exonic . . 0.045 @ . . . 0.33 0.34 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.257 0.010 . . 37 . 0.245 . . 0.115 . . . 0.042 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.098 . . . . . 0.000 . 0.002 . HET 0.54 . . . . . . . ID\x3dCOSM328400\x3bOCCURENCE\x3d1(pancreas) . . . . . 0.0878 . . I.71 -3.41 . 0.590000 A6NMS7 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.388 -2.388000 . . 0.590000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.010 . 0.001 -2.388 -0.744 . rs3868164 rs3868164 rs3868164 rs3868164 1 1538 10 1/0 0,255,255 +. 17 44373844 G A - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373844 44373844 Chr17(GRCh37):g.44373844G>A *43022 *43022 NM_001039083.4:c.*43022C>T p.? p.? 4 43297 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328401|COSM328401|COSM328401 Pancreas|Haematopoietic and lymphoid tissue|Central nervous system 0.000576|0.000567|0.000420 1736|3530|2383 transition C T C>T 0.000 0.851 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.G1345A:p.V449I . . 0.46153846 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.408 . . 39.0 . . . . . . . . . . -0.8471 -1.022 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.181 @ . . . 0.39 0.32 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.147 0.006 . . 37 . 0.456 . . 0.338 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.414 . . 0.214 . . . . . . 2 0.138 . . . . . 0.116 . 0.051 . HET 0.15 . . . . . . . . . . . . . IV.82 . . I.88 0.866 . 0.170000 A6NMS7 . . . . . 0.043 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.424 0.424000 . . 0.170000 . . 1.0E-255 0.000 0.063 . 0.083 0.002 . 0.088 . 0.291 0.424 -0.045 . rs3893633 rs3893633 rs3893633 rs3893633 1 1538 10 1/0 0,255,255 +. 17 44373844 G A - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373844 44373844 Chr17(GRCh37):g.44373844G>A 1345 1345 NM_014834.4:c.1345G>A p.Val449Ile p.Val449Ile 1 616555 -1265 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328401|COSM328401|COSM328401 Pancreas|Haematopoietic and lymphoid tissue|Central nervous system 0.000576|0.000567|0.000420 1736|3530|2383 transition G A G>A 0.000 0.851 V Val GTA 0.114 I Ile ATA 0.163 449 9 4 Elephant 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.2 III.63 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.G1345A:p.V449I . . 0.46153846 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.408 . . 39.0 . . . . . . . . . . -0.8471 -1.022 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.181 @ . . . 0.39 0.32 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.147 0.006 . . 37 . 0.456 . . 0.338 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.414 . . 0.214 . . . . . . 2 0.138 . . . . . 0.116 . 0.051 . HET 0.15 . . . . . . . . . . . . . IV.82 . . I.88 0.866 . 0.170000 A6NMS7 . . . . . 0.043 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.424 0.424000 . . 0.170000 . . 1.0E-255 0.000 0.063 . 0.083 0.002 . 0.088 . 0.291 0.424 -0.045 . rs3893633 rs3893633 rs3893633 rs3893633 1 1538 10 1/0 0,255,255 +. 17 44373886 C T - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373886 44373886 Chr17(GRCh37):g.44373886C>T *42980 *42980 NM_001039083.4:c.*42980G>A p.? p.? 4 43255 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328402|COSM328402|COSM328402 Thyroid|Pancreas|Central nervous system 0.001339|0.000576|0.000420 747|1736|2383 transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1387T:p.P463S . . 0.43589744 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.114 . . 39.0 . . . . . . . . . . -0.7125 -1.030 -0.712 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.626 . . exonic exonic exonic . . 0.046 @ . . . 0.32 0.34 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.260 0.010 . . 37 . 0.603 . . 0.530 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.681 . . 0 0 0 0 0 0 . 0.574 . . 0.593 . . . . . . 2 0.078 . . . . . 0.101 . 0.045 . HET 0.68 . . . . . . . . . . . . . IV.21 . . I.68 -3.37 . 0.120000 A6NMS7 . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.510 -0.510000 . . 0.120000 . . 1.0E-255 0.000 0.063 . 0.074 0.001 . 0.062 . 0.093 -0.510 -0.058 . rs3893632 rs3893632 rs3893632 rs3893632 1 1538 10 1/0 0,255,255 +. 17 44373886 C T - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373886 44373886 Chr17(GRCh37):g.44373886C>T 1387 1387 NM_014834.4:c.1387C>T p.Pro463Ser p.Pro463Ser 1 616555 -1223 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Weakly Activated 44373890 5.25858 0.759476 84.4675 6.57071 0.786252 84.4675 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328402|COSM328402|COSM328402 Thyroid|Pancreas|Central nervous system 0.001339|0.000576|0.000420 747|1736|2383 transition C T C>T 0.000 -0.360 P Pro CCA 0.274 S Ser TCA 0.148 463 9 6 Elephant -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 244.82 0.00 Tolerated 0.71 III.36 good 5.116E-1 0.2878 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1387T:p.P463S . . 0.43589744 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.114 . . 39.0 . . . . . . . . . . -0.7125 -1.030 -0.712 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.626 . . exonic exonic exonic . . 0.046 @ . . . 0.32 0.34 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.260 0.010 . . 37 . 0.603 . . 0.530 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.681 . . 0 0 0 0 0 0 . 0.574 . . 0.593 . . . . . . 2 0.078 . . . . . 0.101 . 0.045 . HET 0.68 . . . . . . . . . . . . . IV.21 . . I.68 -3.37 . 0.120000 A6NMS7 . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.510 -0.510000 . . 0.120000 . . 1.0E-255 0.000 0.063 . 0.074 0.001 . 0.062 . 0.093 -0.510 -0.058 . rs3893632 rs3893632 rs3893632 rs3893632 1 1538 10 1/0 0,255,255 +. 17 44375120 T C - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44375120 44375120 Chr17(GRCh37):g.44375120T>C *41746 *41746 NM_001039083.4:c.*41746A>G p.? p.? 4 42021 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Donor Strongly Activated 44375120 0.081417 70.8022 5.88335 0.834908 82.9382 0.001748 0.004386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004386 2 2 0 0 0 0 0 0 0 1144 456 38 10 2 0 396 216 26 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 125 Genomes transition A G A>G 0.000 -0.198 211 PASS . . . . . . . . . . . . . . . . 0.1891892 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.3161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.3 182 . LRRC37A LRRC37A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0017 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs2531767 rs2531767 rs2531767 rs2531767 1 1538 10 1/0 0,230,255 +. 17 44375120 T C - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution intron GRCh37 44375120 44375120 Chr17(GRCh37):g.44375120T>C 2609+12 2609+12 NM_014834.4:c.2609+12T>C p.? p.? 1 1 616555 12 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 5.07554 0 0.001748 0.004386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004386 2 2 0 0 0 0 0 0 0 1144 456 38 10 2 0 396 216 26 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 125 Genomes transition T C T>C 0.000 -0.198 211 PASS . . . . . . . . . . . . . . . . 0.1891892 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.3161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.3 182 . LRRC37A LRRC37A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0017 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs2531767 rs2531767 rs2531767 rs2531767 1 1538 10 1/0 0,230,255 +rs748643542 17 44408066 C A - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44408066 44408066 Chr17(GRCh37):g.44408066C>A *226656 *226656 NM_001113738.1:c.*226656G>T p.? p.? 4 226931 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 rs748643542 yes no Frequency 1 C 0.000000 0 0.000408 0.000319 0.000501 0.000000 0.000539 0.001363 0.000000 0.000000 0.002242 0.001363 33 3 8 0 6 12 0 0 4 80808 9390 15974 2788 11132 8802 25668 5270 1784 0.000272 0.000213 0.000250 0.000000 0.000359 0.000909 0.000000 0.000000 0.002242 11 1 2 0 2 4 0 0 2 11 1 4 0 2 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.953 0.528 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon9:c.C3423A:p.F1141L . . 1.0 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.397 . @ . . . . . 1 0.367 . . 43.0 . . . . . . . . . . -0.4510 -0.504 -0.451 c . . . . . 2.864e-04 . . . 0 0.0015 0.0013 0.0010 0 0 0 0.0053 0 0.0018 0.0013 0.0029 0 0 0 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.212 @ . . . 0.21 0.18 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.439 0.021 . . 37 . 0.366 . . 0.157 . . . 0.543 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.326 . . 0.324 . . . . . . 3 0.289 . . . . . 0.140 . 0.551 . HOM 0.06 rs748643542 . . . . . . . . . . . . 5.1079 . . II.38 I.39 . 0.170000 . . . . . . 0.287 . . . 0.0003 0.0004 0.0005 0 0.0006 0 0 0.0023 0.0014 0.0005 0.0003 0 0 0 0 0 0 . . 0.558 . 0.558 0.558000 . . 0.170000 . . 1.0E-111 0.067 0.218 . 0.200 0.643 . 0.160 . 0.102 0.558 0.018 . rs1863115 rs1863115 rs1863115 rs1863115 1 1538 255 1.I 0,0,255 +rs748643542 17 44408066 C A - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44408066 44408066 Chr17(GRCh37):g.44408066C>A *8800 *8800 NM_001039083.4:c.*8800G>T p.? p.? 4 9075 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 rs748643542 yes no Frequency 1 C 0.000000 0 0.000408 0.000319 0.000501 0.000000 0.000539 0.001363 0.000000 0.000000 0.002242 0.001363 33 3 8 0 6 12 0 0 4 80808 9390 15974 2788 11132 8802 25668 5270 1784 0.000272 0.000213 0.000250 0.000000 0.000359 0.000909 0.000000 0.000000 0.002242 11 1 2 0 2 4 0 0 2 11 1 4 0 2 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.953 0.528 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon9:c.C3423A:p.F1141L . . 1.0 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.397 . @ . . . . . 1 0.367 . . 43.0 . . . . . . . . . . -0.4510 -0.504 -0.451 c . . . . . 2.864e-04 . . . 0 0.0015 0.0013 0.0010 0 0 0 0.0053 0 0.0018 0.0013 0.0029 0 0 0 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.212 @ . . . 0.21 0.18 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.439 0.021 . . 37 . 0.366 . . 0.157 . . . 0.543 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.326 . . 0.324 . . . . . . 3 0.289 . . . . . 0.140 . 0.551 . HOM 0.06 rs748643542 . . . . . . . . . . . . 5.1079 . . II.38 I.39 . 0.170000 . . . . . . 0.287 . . . 0.0003 0.0004 0.0005 0 0.0006 0 0 0.0023 0.0014 0.0005 0.0003 0 0 0 0 0 0 . . 0.558 . 0.558 0.558000 . . 0.170000 . . 1.0E-111 0.067 0.218 . 0.200 0.643 . 0.160 . 0.102 0.558 0.018 . rs1863115 rs1863115 rs1863115 rs1863115 1 1538 255 1.I 0,0,255 +rs748643542 17 44408066 C A - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44408066 44408066 Chr17(GRCh37):g.44408066C>A 3423 3423 NM_014834.4:c.3423C>A p.Phe1141Leu p.Phe1141Leu 9 616555 251 3' 91.9858 8.06439 0.983737 8.01324 91.9858 8.06439 0.983737 8.01324 0 rs748643542 yes no Frequency 1 C 0.000000 0 0.000408 0.000319 0.000501 0.000000 0.000539 0.001363 0.000000 0.000000 0.002242 0.001363 33 3 8 0 6 12 0 0 4 80808 9390 15974 2788 11132 8802 25668 5270 1784 0.000272 0.000213 0.000250 0.000000 0.000359 0.000909 0.000000 0.000000 0.002242 11 1 2 0 2 4 0 0 2 11 1 4 0 2 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.953 0.528 F Phe TTC 0.546 L Leu TTA 0.073 1141 9 6 Cow 1 0 0 0 0 5.II 4.IX 132 111 22 C0 255.29 0.00 Tolerated 0.49 III.36 good 5.608E-1 0.1815 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon9:c.C3423A:p.F1141L . . 1.0 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.397 . @ . . . . . 1 0.367 . . 43.0 . . . . . . . . . . -0.4510 -0.504 -0.451 c . . . . . 2.864e-04 . . . 0 0.0015 0.0013 0.0010 0 0 0 0.0053 0 0.0018 0.0013 0.0029 0 0 0 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.212 @ . . . 0.21 0.18 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.439 0.021 . . 37 . 0.366 . . 0.157 . . . 0.543 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.326 . . 0.324 . . . . . . 3 0.289 . . . . . 0.140 . 0.551 . HOM 0.06 rs748643542 . . . . . . . . . . . . 5.1079 . . II.38 I.39 . 0.170000 . . . . . . 0.287 . . . 0.0003 0.0004 0.0005 0 0.0006 0 0 0.0023 0.0014 0.0005 0.0003 0 0 0 0 0 0 . . 0.558 . 0.558 0.558000 . . 0.170000 . . 1.0E-111 0.067 0.218 . 0.200 0.643 . 0.160 . 0.102 0.558 0.018 . rs1863115 rs1863115 rs1863115 rs1863115 1 1538 255 1.I 0,0,255 +rs273532 17 44408776 T C - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44408776 44408776 Chr17(GRCh37):g.44408776T>C *225946 *225946 NM_001113738.1:c.*225946A>G p.? p.? 4 226221 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 New Acceptor Site 44408775 2.55337 0.000232 69.0365 rs273532 yes no Frequency/1000G 2 0.000000 0 0.001222 0.000674 0.002479 0.000787 0.001675 0.001769 0.000669 0.001111 0.001019 0.002479 169 12 54 3 26 21 33 17 3 138332 17804 21784 3812 15520 11870 49300 15298 2944 0.000578 0.000112 0.001194 0.000525 0.000515 0.001179 0.000325 0.000784 0.000000 40 1 13 1 4 7 8 6 0 89 10 28 1 18 7 17 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3958454|COSM3958454 Upper aerodigestive tract|Lung 0.004823|0.000419 1244|2388 transition A G A>G 0.000 -1.167 111 PASS 0.0041 0.03 0.05 0.01 0.05 . . . . . . . . LRRC37A:NM_014834:exon9:c.T4133C:p.L1378P . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.079 . . 13.0 . . . . . . . . . . -1.8854 -1.896 -1.885 c . . . . . 3.425e-03 . . . 0.0007 0.0013 0.0022 0.0013 0 0.0009 0 0.0021 0.0007 0.0010 0.0021 0.0018 0 0.0003 0 0.0021 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.560 . . exonic exonic exonic . . 0.054 @ . ENSG00000264070.1 Esophagus_Muscularis 0.16 0.19 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.169 0.006 . . 37 . 0.023 . . 0.135 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.175 . . . . . 0.273 . 0.043 . HOM 0.7 rs273532 . . . . . . . 0.028846153846153848 0.0040650406504065045 0.052486187845303865 0.008741258741258742 0.048812664907651716 VII.92 9.98E-4 . 2.I -2.82 . 0.950000 . . . . . . 0.004 . . . 0.0005 0.0012 0.0024 0.0008 0.0018 0.0012 0.0005 0.0008 0.0018 0.0010 0.0015 0.0043 0 0 0.0005 0.0024 0.0023 . . 0.133 . -1.201 -1.201000 . . 0.950000 . . 1.0E-111 0.000 0.063 . 0.016 0.003 . 0.034 . 0.024 -1.201 0.033 0.05 rs273532 rs273532 rs273532 rs191224928 1 1538 255 1.I 0,0,255 +rs273532 17 44408776 T C - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44408776 44408776 Chr17(GRCh37):g.44408776T>C *8090 *8090 NM_001039083.4:c.*8090A>G p.? p.? 4 8365 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 New Acceptor Site 44408775 2.55337 0.000232 69.0365 rs273532 yes no Frequency/1000G 2 0.000000 0 0.001222 0.000674 0.002479 0.000787 0.001675 0.001769 0.000669 0.001111 0.001019 0.002479 169 12 54 3 26 21 33 17 3 138332 17804 21784 3812 15520 11870 49300 15298 2944 0.000578 0.000112 0.001194 0.000525 0.000515 0.001179 0.000325 0.000784 0.000000 40 1 13 1 4 7 8 6 0 89 10 28 1 18 7 17 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3958454|COSM3958454 Upper aerodigestive tract|Lung 0.004823|0.000419 1244|2388 transition A G A>G 0.000 -1.167 111 PASS 0.0041 0.03 0.05 0.01 0.05 . . . . . . . . LRRC37A:NM_014834:exon9:c.T4133C:p.L1378P . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.079 . . 13.0 . . . . . . . . . . -1.8854 -1.896 -1.885 c . . . . . 3.425e-03 . . . 0.0007 0.0013 0.0022 0.0013 0 0.0009 0 0.0021 0.0007 0.0010 0.0021 0.0018 0 0.0003 0 0.0021 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.560 . . exonic exonic exonic . . 0.054 @ . ENSG00000264070.1 Esophagus_Muscularis 0.16 0.19 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.169 0.006 . . 37 . 0.023 . . 0.135 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.175 . . . . . 0.273 . 0.043 . HOM 0.7 rs273532 . . . . . . . 0.028846153846153848 0.0040650406504065045 0.052486187845303865 0.008741258741258742 0.048812664907651716 VII.92 9.98E-4 . 2.I -2.82 . 0.950000 . . . . . . 0.004 . . . 0.0005 0.0012 0.0024 0.0008 0.0018 0.0012 0.0005 0.0008 0.0018 0.0010 0.0015 0.0043 0 0 0.0005 0.0024 0.0023 . . 0.133 . -1.201 -1.201000 . . 0.950000 . . 1.0E-111 0.000 0.063 . 0.016 0.003 . 0.034 . 0.024 -1.201 0.033 0.05 rs273532 rs273532 rs273532 rs191224928 1 1538 255 1.I 0,0,255 +rs273532 17 44408776 T C - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44408776 44408776 Chr17(GRCh37):g.44408776T>C 4133 4133 NM_014834.4:c.4133T>C p.Leu1378Pro p.Leu1378Pro 9 616555 -572 5' 87.5642 8.40856 0.983411 6.66939 87.5642 8.40856 0.983411 6.66939 0 rs273532 yes no Frequency/1000G 2 0.000000 0 0.001222 0.000674 0.002479 0.000787 0.001675 0.001769 0.000669 0.001111 0.001019 0.002479 169 12 54 3 26 21 33 17 3 138332 17804 21784 3812 15520 11870 49300 15298 2944 0.000578 0.000112 0.001194 0.000525 0.000515 0.001179 0.000325 0.000784 0.000000 40 1 13 1 4 7 8 6 0 89 10 28 1 18 7 17 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3958454|COSM3958454 Upper aerodigestive tract|Lung 0.004823|0.000419 1244|2388 transition T C T>C 0.000 -1.167 L Leu CTT 0.129 P Pro CCT 0.283 1378 9 4 Cow -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 250.69 0.00 Deleterious 0.05 III.36 good 8.416E-1 0.4459 111 PASS 0.0041 0.03 0.05 0.01 0.05 . . . . . . . . LRRC37A:NM_014834:exon9:c.T4133C:p.L1378P . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.079 . . 13.0 . . . . . . . . . . -1.8854 -1.896 -1.885 c . . . . . 3.425e-03 . . . 0.0007 0.0013 0.0022 0.0013 0 0.0009 0 0.0021 0.0007 0.0010 0.0021 0.0018 0 0.0003 0 0.0021 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.560 . . exonic exonic exonic . . 0.054 @ . ENSG00000264070.1 Esophagus_Muscularis 0.16 0.19 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.169 0.006 . . 37 . 0.023 . . 0.135 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.175 . . . . . 0.273 . 0.043 . HOM 0.7 rs273532 . . . . . . . 0.028846153846153848 0.0040650406504065045 0.052486187845303865 0.008741258741258742 0.048812664907651716 VII.92 9.98E-4 . 2.I -2.82 . 0.950000 . . . . . . 0.004 . . . 0.0005 0.0012 0.0024 0.0008 0.0018 0.0012 0.0005 0.0008 0.0018 0.0010 0.0015 0.0043 0 0 0.0005 0.0024 0.0023 . . 0.133 . -1.201 -1.201000 . . 0.950000 . . 1.0E-111 0.000 0.063 . 0.016 0.003 . 0.034 . 0.024 -1.201 0.033 0.05 rs273532 rs273532 rs273532 rs191224928 1 1538 255 1.I 0,0,255 +. 17 44590578 C T - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44590578 44590578 Chr17(GRCh37):g.44590578C>T *44144 *44144 NM_001113738.1:c.*44144G>A p.? p.? 4 44419 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Acceptor Strongly Activated 44590559 1.86265 0.002787 71.8582 2.11644 0.003196 71.8582 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42312 5596 7620 566 6582 2336 12054 6638 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 64 Exomes COSM6365189 Thyroid 0.002677 747 transition G A G>A 0.000 -0.198 111 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C500T:p.T167I . . 1.0 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.055 . . 10.0 . . . . . . . . . . -1.2597 -1.356 -1.260 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.099 @ . . . 0.33 0.29 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.153 0.006 . . 37 . 0.339 . . 0.156 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.124 . . . . . 0.040 . 0.074 . HOM 0.01 . . . . . . . . . . . . . II.47 . ENST00000333412 I.51 -0.925 . 0.260000 A6NM11 . . . . . 0.027 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.177 -0.177000 . . 0.260000 . . 1.0E-111 0.000 0.063 . 0.083 0.040 . 0.085 . 0.275 -0.177 0.330 . rs62073179 rs62073179 rs62073179 rs62073179 1 1538 255 1.I 0,0,255 +. 17 44590578 C T - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44590578 44590578 Chr17(GRCh37):g.44590578C>T 500 500 NM_001006607.2:c.500C>T p.Thr167Ile p.Thr167Ile 1 616556 -2110 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42312 5596 7620 566 6582 2336 12054 6638 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 64 Exomes COSM6365189 Thyroid 0.002677 747 transition C T C>T 0.000 -0.198 T Thr ACA 0.280 I Ile ATA 0.163 167 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 111 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C500T:p.T167I . . 1.0 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.055 . . 10.0 . . . . . . . . . . -1.2597 -1.356 -1.260 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.099 @ . . . 0.33 0.29 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.153 0.006 . . 37 . 0.339 . . 0.156 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.124 . . . . . 0.040 . 0.074 . HOM 0.01 . . . . . . . . . . . . . II.47 . ENST00000333412 I.51 -0.925 . 0.260000 A6NM11 . . . . . 0.027 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.177 -0.177000 . . 0.260000 . . 1.0E-111 0.000 0.063 . 0.083 0.040 . 0.085 . 0.275 -0.177 0.330 . rs62073179 rs62073179 rs62073179 rs62073179 1 1538 255 1.I 0,0,255 +. 17 44590922 G A - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44590922 44590922 Chr17(GRCh37):g.44590922G>A *43800 *43800 NM_001113738.1:c.*43800C>T p.? p.? 4 44075 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM5426740|COSM5426740 Thyroid|Haematopoietic and lymphoid tissue 0.002677|0.000283 747|3530 transition C T C>T 0.000 -0.682 225 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.G844A:p.V282I . . 0.23076923 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.105 . . 39.0 . . . . . . . . . . -1.2499 -1.382 -1.250 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.589 . . exonic exonic exonic . . 0.052 @ . . . 0.35 0.36 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.256 0.010 . . 37 . 0.359 . . 0.243 . . . 0.446 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.245 . . 0.256 . . . . . . 2 0.156 . . . . . 0.003 . 0.019 . HET 0.19 . . . . . . . . . . . . . 0.3243 . ENST00000333412 II.34 -2.94 . 0.290000 A6NM11 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.599 -0.599000 . . 0.290000 . . 1.0E-225 0.000 0.063 . 0.074 0.000 . 0.034 . 0.291 -0.599 -0.301 . rs3744455 rs3744455 rs3744455 rs3744455 1 1538 10 1/0 0,255,255 +. 17 44590922 G A - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44590922 44590922 Chr17(GRCh37):g.44590922G>A 844 844 NM_001006607.2:c.844G>A p.Val282Ile p.Val282Ile 1 616556 -1766 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Strongly Activated 44590935 V.42 0.339518 7.61702 0.301648 81.4049 COSM5426740|COSM5426740 Thyroid|Haematopoietic and lymphoid tissue 0.002677|0.000283 747|3530 transition G A G>A 0.000 -0.682 V Val GTT 0.178 I Ile ATT 0.356 282 3 3 4 0 0 5.IX 5.II 84 111 29 225 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.G844A:p.V282I . . 0.23076923 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.105 . . 39.0 . . . . . . . . . . -1.2499 -1.382 -1.250 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.589 . . exonic exonic exonic . . 0.052 @ . . . 0.35 0.36 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.256 0.010 . . 37 . 0.359 . . 0.243 . . . 0.446 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.245 . . 0.256 . . . . . . 2 0.156 . . . . . 0.003 . 0.019 . HET 0.19 . . . . . . . . . . . . . 0.3243 . ENST00000333412 II.34 -2.94 . 0.290000 A6NM11 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.599 -0.599000 . . 0.290000 . . 1.0E-225 0.000 0.063 . 0.074 0.000 . 0.034 . 0.291 -0.599 -0.301 . rs3744455 rs3744455 rs3744455 rs3744455 1 1538 10 1/0 0,255,255 +. 17 44591012 C G - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591012 44591012 Chr17(GRCh37):g.44591012C>G *43710 *43710 NM_001113738.1:c.*43710G>C p.? p.? 4 43985 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328404|COSM328404 Thyroid|Pancreas 0.005355|0.000576 747|1736 transversion G C G>C 0.000 -0.924 197 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C934G:p.P312A . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.027 . . 52.0 . . . . . . . . . . -1.2374 -1.355 -1.237 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.625 . . exonic exonic exonic . . 0.032 @ . . . 0.33 0.31 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.353 0.015 . . 37 . 0.426 . . 0.338 . . . 0.540 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.170 . . 0.149 . . . . . . 2 0.148 . . . . . 0.238 . 0.118 . HET 0.02 . . . . . . . ID\x3dCOSM328404\x3bOCCURENCE\x3d1(pancreas) . . . . . 7.0013 . ENST00000333412 II.28 -4.55 . 0.020000 A6NM11 . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.944 -0.944000 . . 0.020000 . . 1.0E-197 0.000 0.063 . 0.043 0.005 . 0.080 . 0.293 -0.944 -0.275 . rs62066514 rs62066514 rs62066514 rs62066514 1 1538 10 1/0 0,255,255 +. 17 44591012 C G - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44591012 44591012 Chr17(GRCh37):g.44591012C>G 934 934 NM_001006607.2:c.934C>G p.Pro312Ala p.Pro312Ala 1 616556 -1676 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM328404|COSM328404 Thyroid|Pancreas 0.005355|0.000576 747|1736 transversion C G C>G 0.000 -0.924 P Pro CCT 0.283 A Ala GCT 0.263 312 -1 -1 -1 0.39 0 8 8.I 32.5 31 27 197 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C934G:p.P312A . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.027 . . 52.0 . . . . . . . . . . -1.2374 -1.355 -1.237 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.625 . . exonic exonic exonic . . 0.032 @ . . . 0.33 0.31 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.353 0.015 . . 37 . 0.426 . . 0.338 . . . 0.540 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.170 . . 0.149 . . . . . . 2 0.148 . . . . . 0.238 . 0.118 . HET 0.02 . . . . . . . ID\x3dCOSM328404\x3bOCCURENCE\x3d1(pancreas) . . . . . 7.0013 . ENST00000333412 II.28 -4.55 . 0.020000 A6NM11 . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.944 -0.944000 . . 0.020000 . . 1.0E-197 0.000 0.063 . 0.043 0.005 . 0.080 . 0.293 -0.944 -0.275 . rs62066514 rs62066514 rs62066514 rs62066514 1 1538 10 1/0 0,255,255 +. 17 44591041 C T - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591041 44591041 Chr17(GRCh37):g.44591041C>T *43681 *43681 NM_001113738.1:c.*43681G>A p.? p.? 4 43956 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328405 Pancreas 0.000576 1736 transition G A G>A 0.000 -0.440 217 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C963T:p.A321A . . 0.20833333 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.3009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.32 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM328405\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs3894937 rs3894937 rs3894937 rs3894937 1 1538 10 1/0 0,255,255 +. 17 44591041 C T - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution synonymous exon GRCh37 44591041 44591041 Chr17(GRCh37):g.44591041C>T 963 963 NM_001006607.2:c.963C>T p.Ala321= p.Ala321Ala 1 616556 -1647 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM328405 Pancreas 0.000576 1736 transition C T C>T 0.000 -0.440 A Ala GCC 0.403 A Ala GCT 0.263 321 217 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C963T:p.A321A . . 0.20833333 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.3009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.32 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM328405\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs3894937 rs3894937 rs3894937 rs3894937 1 1538 10 1/0 0,255,255 +. 17 44591383 C G - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591383 44591383 Chr17(GRCh37):g.44591383C>G *43339 *43339 NM_001113738.1:c.*43339G>C p.? p.? 4 43614 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Acceptor Strongly Activated 44591374 0.004769 64.8245 1.16712 0.0256 67.5654 COSM4415842 Haematopoietic and lymphoid tissue 0.001133 3530 transversion G C G>C 0.000 -2.781 236 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C1305G:p.H435Q . . 0.26923078 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.072 . . 26.0 . . . . . . . . . . -1.7741 -1.874 -1.774 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.596 . . exonic exonic exonic . . 0.020 @ . . . 0.38 0.36 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.016 0.127 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.085 0.004 . . 37 . 0.238 . . 0.163 . . . 0.042 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.098 . . . . . 0.022 . 0.002 . HET 0.64 . . . . . . . . . . . . . I.79 . ENST00000333412 3.0 -6.01 . 0.630000 A6NM11 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.485 -2.485000 . . 0.630000 . . 1.0E-236 0.000 0.063 . 0.016 0.000 . 0.009 . 0.000 -2.485 -0.836 . rs3868164 rs3868164 rs3868164 rs3868164 1 1538 10 1/0 0,255,255 +. 17 44591383 C G - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44591383 44591383 Chr17(GRCh37):g.44591383C>G 1305 1305 NM_001006607.2:c.1305C>G p.His435Gln p.His435Gln 1 616556 -1305 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM4415842 Haematopoietic and lymphoid tissue 0.001133 3530 transversion C G C>G 0.000 -2.781 H His CAC 0.587 Q Gln CAG 0.744 435 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 236 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C1305G:p.H435Q . . 0.26923078 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.072 . . 26.0 . . . . . . . . . . -1.7741 -1.874 -1.774 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.596 . . exonic exonic exonic . . 0.020 @ . . . 0.38 0.36 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.016 0.127 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.085 0.004 . . 37 . 0.238 . . 0.163 . . . 0.042 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.098 . . . . . 0.022 . 0.002 . HET 0.64 . . . . . . . . . . . . . I.79 . ENST00000333412 3.0 -6.01 . 0.630000 A6NM11 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.485 -2.485000 . . 0.630000 . . 1.0E-236 0.000 0.063 . 0.016 0.000 . 0.009 . 0.000 -2.485 -0.836 . rs3868164 rs3868164 rs3868164 rs3868164 1 1538 10 1/0 0,255,255 +. 17 44591423 G A - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591423 44591423 Chr17(GRCh37):g.44591423G>A *43299 *43299 NM_001113738.1:c.*43299C>T p.? p.? 4 43574 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328406|COSM328406 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transition C T C>T 0.000 0.528 243 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.G1345A:p.V449I . . 0.29166666 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.353 . . 24.0 . . . . . . . . . . -0.8272 -0.951 -0.827 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.210 @ . . . 0.38 0.38 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.256 0.010 . . 37 . 0.495 . . 0.420 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.318 . . 0.322 . . . . . . 2 0.137 . . . . . 0.190 . 0.039 . HET 0.13 . . . . . . . ID\x3dCOSM328406\x3bOCCURENCE\x3d1(pancreas) . . . . . 6.0762 . ENST00000333412 II.51 I.35 . 0.160000 A6NM11 . . . . . 0.044 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 1.508 1.508000 . . 0.160000 . . 1.0E-243 0.000 0.063 . 0.016 0.002 . 0.024 . 0.118 1.508 -0.062 . rs3893633 rs3893633 rs3893633 rs3893633 1 1538 10 1/0 0,255,255 +. 17 44591423 G A - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44591423 44591423 Chr17(GRCh37):g.44591423G>A 1345 1345 NM_001006607.2:c.1345G>A p.Val449Ile p.Val449Ile 1 616556 -1265 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM328406|COSM328406 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transition G A G>A 0.000 0.528 V Val GTA 0.114 I Ile ATA 0.163 449 3 3 4 0 0 5.IX 5.II 84 111 29 243 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.G1345A:p.V449I . . 0.29166666 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.353 . . 24.0 . . . . . . . . . . -0.8272 -0.951 -0.827 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.210 @ . . . 0.38 0.38 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.256 0.010 . . 37 . 0.495 . . 0.420 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.318 . . 0.322 . . . . . . 2 0.137 . . . . . 0.190 . 0.039 . HET 0.13 . . . . . . . ID\x3dCOSM328406\x3bOCCURENCE\x3d1(pancreas) . . . . . 6.0762 . ENST00000333412 II.51 I.35 . 0.160000 A6NM11 . . . . . 0.044 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 1.508 1.508000 . . 0.160000 . . 1.0E-243 0.000 0.063 . 0.016 0.002 . 0.024 . 0.118 1.508 -0.062 . rs3893633 rs3893633 rs3893633 rs3893633 1 1538 10 1/0 0,255,255 +. 17 44591465 C T - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591465 44591465 Chr17(GRCh37):g.44591465C>T *43257 *43257 NM_001113738.1:c.*43257G>A p.? p.? 4 43532 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328407|COSM328407 Thyroid|Pancreas 0.002677|0.000576 747|1736 transition G A G>A 0.000 -0.360 250 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C1387T:p.P463S . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.126 . . 22.0 . . . . . . . . . . -0.7449 -1.064 -0.745 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.026 @ . . . 0.37 0.35 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.342 0.014 . . 37 . 0.601 . . 0.561 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.681 . . 0 0 0 0 0 0 . 0.622 . . 0.584 . . . . . . 2 0.079 . . . . . 0.203 . 0.098 . HET 0.71 . . . . . . . ID\x3dCOSM328407\x3bOCCURENCE\x3d1(pancreas) . . . . . VI.53 . ENST00000333412 II.57 -5.15 . 0.100000 A6NM11 . . . . . 0.033 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.865 -0.865000 . . 0.100000 . . 1.0E-250 0.000 0.063 . 0.043 0.007 . 0.039 . 0.110 -0.865 0.853 . rs3893632 rs3893632 rs3893632 rs3893632 1 1538 10 1/0 0,255,255 +. 17 44591465 C T - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44591465 44591465 Chr17(GRCh37):g.44591465C>T 1387 1387 NM_001006607.2:c.1387C>T p.Pro463Ser p.Pro463Ser 1 616556 -1223 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Weakly Activated 44591469 5.25858 0.759476 84.4675 6.57071 0.786252 84.4675 COSM328407|COSM328407 Thyroid|Pancreas 0.002677|0.000576 747|1736 transition C T C>T 0.000 -0.360 P Pro CCA 0.274 S Ser TCA 0.148 463 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 250 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C1387T:p.P463S . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.126 . . 22.0 . . . . . . . . . . -0.7449 -1.064 -0.745 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.026 @ . . . 0.37 0.35 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.342 0.014 . . 37 . 0.601 . . 0.561 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.681 . . 0 0 0 0 0 0 . 0.622 . . 0.584 . . . . . . 2 0.079 . . . . . 0.203 . 0.098 . HET 0.71 . . . . . . . ID\x3dCOSM328407\x3bOCCURENCE\x3d1(pancreas) . . . . . VI.53 . ENST00000333412 II.57 -5.15 . 0.100000 A6NM11 . . . . . 0.033 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.865 -0.865000 . . 0.100000 . . 1.0E-250 0.000 0.063 . 0.043 0.007 . 0.039 . 0.110 -0.865 0.853 . rs3893632 rs3893632 rs3893632 rs3893632 1 1538 10 1/0 0,255,255 +rs201430768 17 44592289 A G - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44592289 44592289 Chr17(GRCh37):g.44592289A>G *42433 *42433 NM_001113738.1:c.*42433T>C p.? p.? 4 42708 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 rs201430768 yes no Frequency 1 0.000000 0 0.000093 0.000274 0.000000 0.000000 0.000000 0.000421 0.000113 0.000000 0.000000 0.000421 5 2 0 0 0 1 2 0 0 53600 7290 7592 656 8042 2378 17722 8660 1260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.A2211G:p.P737P . . 0.54545456 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.4984 . . . . . . . . 3.062e-04 . . . 0 0.0003 0 0 0 0 0 0.0057 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.32 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.236e-05 0 0 0 0 0.0002 0 0.0004 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62073222 rs62073222 rs62073222 rs201430768 1 1538 10 1/0 0,255,255 +rs201430768 17 44592289 A G - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution synonymous exon GRCh37 44592289 44592289 Chr17(GRCh37):g.44592289A>G 2211 2211 NM_001006607.2:c.2211A>G p.Pro737= p.Pro737Pro 1 616556 -399 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 rs201430768 yes no Frequency 1 0.000000 0 0.000093 0.000274 0.000000 0.000000 0.000000 0.000421 0.000113 0.000000 0.000000 0.000421 5 2 0 0 0 1 2 0 0 53600 7290 7592 656 8042 2378 17722 8660 1260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.602 P Pro CCA 0.274 P Pro CCG 0.115 737 255 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.A2211G:p.P737P . . 0.54545456 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.4984 . . . . . . . . 3.062e-04 . . . 0 0.0003 0 0 0 0 0 0.0057 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.32 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.236e-05 0 0 0 0 0.0002 0 0.0004 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62073222 rs62073222 rs62073222 rs201430768 1 1538 10 1/0 0,255,255 +. 17 44592699 T C - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44592699 44592699 Chr17(GRCh37):g.44592699T>C *42023 *42023 NM_001113738.1:c.*42023A>G p.? p.? 4 42298 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Donor Strongly Activated 44592699 0.081417 70.8022 5.88335 0.834908 82.9382 0.000097 0.001389 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001389 1 1 0 0 0 0 0 0 0 10320 720 2100 120 3012 680 2516 874 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.117 203 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . -0.2199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.34 182 ENSG00000238083 LRRC37A2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0001 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs2531767 rs2531767 rs2531767 rs2531767 1 1538 10 1/0 0,240,255 +. 17 44592699 T C - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution intron GRCh37 44592699 44592699 Chr17(GRCh37):g.44592699T>C 2609+12 2609+12 NM_001006607.2:c.2609+12T>C p.? p.? 1 1 616556 12 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 5.07554 0 0.000097 0.001389 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001389 1 1 0 0 0 0 0 0 0 10320 720 2100 120 3012 680 2516 874 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -0.117 203 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . -0.2199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.34 182 ENSG00000238083 LRRC37A2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0001 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs2531767 rs2531767 rs2531767 rs2531767 1 1538 10 1/0 0,240,255 +. 17 44627148 T C - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44627148 44627148 Chr17(GRCh37):g.44627148T>C *7574 *7574 NM_001113738.1:c.*7574A>G p.? p.? 4 7849 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 transition A G A>G 0.803 -0.117 184 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon9:c.T4643C:p.I1548T . . 0.12328767 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.033 . . 73.0 . . . . . . . . . . -1.8344 -1.718 -1.834 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.164 @ . . . 0.28 0.19 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.042 . . 0.385 . . . 0.001 0.468 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.021 . 0.020 . LowAF 1 . . . . . . . . . . . . . I.45 . ENST00000333412 3.II 0.556 . 1.000000 . . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.120 0.120000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.043 0.451 . 0.071 . 0.082 0.120 -1.718 . rs2432822 rs2432822 rs2432822 rs2432822 1 1538 10 1/0 0,242,255 +. 17 44627148 T C - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44627148 44627148 Chr17(GRCh37):g.44627148T>C 4643 4643 NM_001006607.2:c.4643T>C p.Ile1548Thr p.Ile1548Thr 9 616556 -62 5' 87.5642 8.40856 0.983411 6.66939 87.5642 8.40856 0.983411 6.93943 0 transition T C T>C 0.803 -0.117 I Ile ATT 0.356 T Thr ACT 0.243 1548 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 184 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon9:c.T4643C:p.I1548T . . 0.12328767 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.033 . . 73.0 . . . . . . . . . . -1.8344 -1.718 -1.834 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.164 @ . . . 0.28 0.19 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.042 . . 0.385 . . . 0.001 0.468 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.021 . 0.020 . LowAF 1 . . . . . . . . . . . . . I.45 . ENST00000333412 3.II 0.556 . 1.000000 . . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.120 0.120000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.043 0.451 . 0.071 . 0.082 0.120 -1.718 . rs2432822 rs2432822 rs2432822 rs2432822 1 1538 10 1/0 0,242,255 +rs77532061 17 45214390 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214390 45214390 Chr17(GRCh37):g.45214390G>C 1931+128 1931+128 NM_001114091.3:c.1931+128C>G p.? p.? 14 14 116946 128 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Donor Strongly Activated 45214393 0.055947 69.4549 3.52916 0.590076 74.975 rs77532061 no no 0 G 0.000000 0 transversion C G C>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.79746836 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.8096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.32 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs77532061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77532061 rs77532061 1 1538 10 1/0 0,254,247 +rs78002830 17 45214392 C G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214392 45214392 Chr17(GRCh37):g.45214392C>G 1931+126 1931+126 NM_001114091.3:c.1931+126G>C p.? p.? 14 14 116946 126 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs78002830 no no 0 C 0.000000 0 transversion G C G>C 0.008 1.577 255 PASS . . . . . . . . . . . . . . . . 0.7848101 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 1.1088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.38 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs78002830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78002830 rs78002830 1 1538 10 1/0 0,254,247 +rs79972073 17 45214398 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214398 45214398 Chr17(GRCh37):g.45214398T>G 1931+120 1931+120 NM_001114091.3:c.1931+120A>C p.? p.? 14 14 116946 120 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs79972073 no no 0 T 0.000000 0 transversion A C A>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.7790698 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . 0.4275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.34 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79972073 0.620 0.630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.62 . . rs79972073 rs79972073 1 1538 10 1/0 0,251,244 +rs187747232 17 45214416 A T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214416 45214416 Chr17(GRCh37):g.45214416A>T 1931+102 1931+102 NM_001114091.3:c.1931+102T>A p.? p.? 14 14 116946 102 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs187747232 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30942 8736 832 302 1620 0 14978 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 41 Genomes transversion T A T>A 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.6753247 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.4307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.35 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187747232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs187747232 rs187747232 1 1538 10 1/0 0,255,255 +rs796708696 17 45214417 A T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214417 45214417 Chr17(GRCh37):g.45214417A>T 1931+101 1931+101 NM_001114091.3:c.1931+101T>A p.? p.? 14 14 116946 101 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs796708696 no no 0 A 0.000000 0 transversion T A T>A 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.6756757 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 0.8501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796848625 17 45214418 G T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214418 45214418 Chr17(GRCh37):g.45214418G>T 1931+100 1931+100 NM_001114091.3:c.1931+100C>A p.? p.? 14 14 116946 100 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs796848625 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.6933333 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.8463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796503929 17 45214420 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214420 45214420 Chr17(GRCh37):g.45214420A>C 1931+98 1931+98 NM_001114091.3:c.1931+98T>G p.? p.? 14 14 116946 98 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Donor Strongly Activated 45214423 0.003225 64.7893 1.22984 0.026252 70.3025 rs796503929 no no 0 A 0.000000 0 transversion T G T>G 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.6875 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . 0.9886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,254 +rs78332669 17 45214430 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214430 45214430 Chr17(GRCh37):g.45214430A>G 1931+88 1931+88 NM_001114091.3:c.1931+88T>C p.? p.? 14 14 116946 88 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs78332669 no no 0 A 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30980 8734 838 302 1622 0 15010 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition T C T>C 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.76635516 . . @ 82 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . 1.0011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.33 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs78332669 0.446 0.399 . . . . . . . . . . . . . . . . . . . . . . . . . . II.33 . . . . . . . . . 0 3.228e-05 0 0 0 0 6.662e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.45 . . rs78332669 rs78332669 1 1538 10 1/0 0,248,241 +rs74648663 17 45214434 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214434 45214434 Chr17(GRCh37):g.45214434T>C 1931+84 1931+84 NM_001114091.3:c.1931+84A>G p.? p.? 14 14 116946 84 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs74648663 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.7657658 . . @ 85 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . 0.7128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.35 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74648663 0.533 0.507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.53 . . rs74648663 rs74648663 1 1538 10 1/0 0,244,237 +rs76499169 17 45214453 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214453 45214453 Chr17(GRCh37):g.45214453A>C 1931+65 1931+65 NM_001114091.3:c.1931+65T>G p.? p.? 14 14 116946 65 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Donor Strongly Activated 45214453 0.000483 63.6694 3.13001 0.395257 76.2844 rs76499169 no no 0 A 0.000000 0 transversion T G T>G 0.197 2.385 255 PASS . . . . . . . . . . . . . . . . 0.8141026 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . I.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.61 0.5 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76499169 0.467 0.457 . . . . . . . . . . . . . . . . . . . . . . . . . . IV.66 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 . . rs76499169 rs76499169 1 1538 10 1/0 0,234,229 +rs79881964 17 45214465 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214465 45214465 Chr17(GRCh37):g.45214465T>C 1931+53 1931+53 NM_001114091.3:c.1931+53A>G p.? p.? 14 14 116946 53 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs79881964 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.80128205 . . @ 125 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . 0.9978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.29 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79881964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79881964 rs79881964 1 1538 10 1/0 0,236,230 +rs76285115 17 45214466 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214466 45214466 Chr17(GRCh37):g.45214466A>G 1931+52 1931+52 NM_001114091.3:c.1931+52T>C p.? p.? 14 14 116946 52 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs76285115 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30964 8730 836 302 1622 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 41 Genomes transition T C T>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.8136646 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 161.0 . . . . . . . . . . 0.8314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.27 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76285115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76285115 rs76285115 1 1538 10 1/0 0,236,231 +rs146006352 17 45214473 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214473 45214473 Chr17(GRCh37):g.45214473A>G 1931+45 1931+45 NM_001114091.3:c.1931+45T>C p.? p.? 14 14 116946 45 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Donor Strongly Activated 45214472 4.73641 0.257916 68.3109 V.97 0.54442 67.9077 rs146006352 no no 0 A 0.000000 0 transition T C T>C 0.000 1.497 255 PASS . . . . . . . . . . . . . . . . 0.8181818 . . @ 144 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . I.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.67 0.55 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs146006352 0.380 0.384 . . . . . . . . . . . . . . . . . . . . . . . . . . IV.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.38 . . rs146006352 rs146006352 1 1538 10 1/0 0,231,226 +rs372605318 17 45214482 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214482 45214482 Chr17(GRCh37):g.45214482A>C 1931+36 1931+36 NM_001114091.3:c.1931+36T>G p.? p.? 14 14 116946 36 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs372605318 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.79891306 . . @ 147 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 184.0 . . . . . . . . . . 1.1499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372605318 0.283 0.254 . . . . . . . . . . . . . . . . . . . . . . . . . . II.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.28 . . rs372605318 rs372605318 1 1538 10 1/0 0,231,226 +rs144880397 17 45214486 C G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214486 45214486 Chr17(GRCh37):g.45214486C>G 1931+32 1931+32 NM_001114091.3:c.1931+32G>C p.? p.? 14 14 116946 32 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs144880397 yes no Frequency/1000G 2 C 0.000000 0 transversion G C G>C 0.740 1.335 255 PASS . . . . . . . . . . . . . . . . 0.81005585 . . @ 145 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . I.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.66 0.5 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs144880397 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . III.64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs144880397 rs144880397 1 1538 10 1/0 0,233,228 +rs147721623 17 45214488 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214488 45214488 Chr17(GRCh37):g.45214488A>G 1931+30 1931+30 NM_001114091.3:c.1931+30T>C p.? p.? 14 14 116946 30 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs147721623 no no 0 A 0.000000 0 transition T C T>C 0.551 0.286 255 PASS . . . . . . . . . . . . . . . . 0.79444444 . . @ 143 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . I.49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.61 0.45 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs147721623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs147721623 rs147721623 1 1538 10 1/0 0,232,227 +rs796299832 17 45214501 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214501 45214501 Chr17(GRCh37):g.45214501A>G 1931+17 1931+17 NM_001114091.3:c.1931+17T>C p.? p.? 14 14 116946 17 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs796299832 no no 0 A 0.000000 0 transition T C T>C 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.79041916 . . @ 132 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . 1.0282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,231 +rs112530322 17 45214510 C G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214510 45214510 Chr17(GRCh37):g.45214510C>G 1931+8 1931+8 NM_001114091.3:c.1931+8G>C p.? p.? 14 14 116946 8 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.993098 0 0.00321776 rs112530322 yes no Frequency 1 C 0.000000 0 COSM5453162|COSM5453162 Liver|Large intestine 0.000844|0.000414 2371|2418 transversion G C G>C 0.709 0.125 255 PASS . . . . . . . . . . . . . . . . 0.86530614 . . @ 212 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 245.0 . . . . . . . . . . I.26 . . . . . . . . 1.579e-05 . . . 0 1.257e-05 0 0 0 2.698e-05 0 0 0 1.084e-05 0 0 0 2.135e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.65 0.46 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs112530322 0.087 0.080 . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 . . rs112530322 rs112530322 1 1538 10 1/0 0,216,212 +rs62075617 17 45214523 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214523 45214523 Chr17(GRCh37):g.45214523A>C 1926 1926 NM_001114091.3:c.1926T>G p.Asn642Lys p.Asn642Lys 14 116946 -6 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983952 0 0.000118273 Tetratricopeptide TPR1 Tetratricopeptide TPR2 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075617 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 239854 14964 32064 9776 16916 29778 110428 20664 5264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 46 Exomes COSM4130184|COSM4130184|COSM4130184 Thyroid|Liver|Large intestine 0.004016|0.000422|0.000414 747|2371|2418 transversion T G T>G 1.000 2.223 N Asn AAT 0.464 K Lys AAG 0.575 642 13 12 Baker's yeast 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C0 85.11 21.98 Tolerated 0.15 3.00 255 PASS . . . . . . . . . . . . . . . . 0.8784314 . . @ 224 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.613 . @ . . . . . 1 0.825 . . 255.0 . . . . . . . . . . 0.4300 0.433 0.430 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.592 . . exonic exonic exonic . . 0.630 @ . . . 0.64 0.6 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.633 0.048 . . 37 . 0.659 . . 0.693 . . . 0.834 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.782 . . 0 0 0 0 0 0 . 0.485 . . 0.491 . . . . . . 0 0.384 . . . . . 0.437 . 0.515 . HOM 0 rs62075617 0.087 0.087 . . . . . . . . . . 10.485 . . V.98 IV.88 . 0.030000 . . . . . . 0.742 . . IV.88 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.547 . 1.054 1.054000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.697 1.000 . 0.493 . 0.252 1.054 1.062 0.087 rs62075617 rs62075617 rs62075617 rs62075617 1 1538 10 1/0 0,216,212 +rs62075619 17 45214544 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45214544 45214544 Chr17(GRCh37):g.45214544T>C 1905 1905 NM_001114091.3:c.1905A>G p.Arg635= p.Arg635Arg 14 116946 -27 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Acceptor Strongly Activated 45214544 3.17235 0.001642 65.8564 4.18829 0.007134 69.7673 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075619 no no 0 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000184 0.000000 1 0 0 0 0 0 0 0 1 244702 15286 33376 9844 17232 30664 111292 21566 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 64 Exomes COSM306935|COSM306935|COSM306935|COSM306935 Thyroid|Liver|Large intestine|Central nervous system 0.008032|0.000844|0.000827|0.000416 747|2371|2418|2405 transition A G A>G 1.000 2.062 R Arg AGA 0.205 R Arg AGG 0.207 635 255 PASS . . . . . . . . . . . . . . . . 0.9014599 . . @ 247 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 274.0 . . . . . . . . . . II.43 . . . . . . . . 3.157e-05 . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.67 0.55 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62075619 0.011 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . V.81 0 4.087e-06 0 0 0 0 0 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs62075619 rs62075619 rs62075619 rs62075619 1 1538 10 1/0 0,215,212 +rs796969472 17 45214648 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214648 45214648 Chr17(GRCh37):g.45214648G>C 1801 1801 NM_001114091.3:c.1801C>G p.Gln601Glu p.Gln601Glu 14 116946 79 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 8.23496 0 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs796969472 no no 0 G 0.000000 0 COSM4130196|COSM4130196 Thyroid|Haematopoietic and lymphoid tissue 0.002677|0.000283 747|3533 transversion C G C>G 1.000 3.757 Q Gln CAA 0.256 E Glu GAA 0.417 601 13 13 Baker's yeast 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C25 0.00 29.27 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.91150445 . . @ 103 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.511 . @ . . . . . 1 0.597 . . 113.0 . . . . . . . . . . 0.6200 0.630 0.620 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . 0.615 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.500 0.027 . . 37 . 0.618 . . 0.680 . . . 0.782 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.566 . . 0 0 0 0 0 0 . 0.533 . . 0.505 . . . . . . 0 0.912 . . . . . 0.630 . 0.807 . HOM 0 . . . . . . . . . . . . . 13.8791 . . V.81 IV.82 . 0.000000 . . . . . . 0.882 . . IV.82 . . . . . . . . . . . . . . . . . . . 0.820 . 1.429 1.429000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.697 0.999 . 0.895 . 0.200 1.429 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs796265930 17 45214651 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214651 45214651 Chr17(GRCh37):g.45214651T>G 1798 1798 NM_001114091.3:c.1798A>C p.Ile600Leu p.Ile600Leu 14 116946 76 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 7.77281 0 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs796265930 no no 0 T 0.000000 0 COSM4130198|COSM4130198 Thyroid|Haematopoietic and lymphoid tissue 0.002677|0.000283 747|3533 transversion A C A>C 1.000 4.483 I Ile ATC 0.481 L Leu CTC 0.197 600 13 11 C. elegans 2 2 2 0 0 5.II 4.IX 111 111 5 C0 89.28 IV.86 Tolerated 0.09 3.00 255 PASS . . . . . . . . . . . . . . . . 0.90909094 . . @ 100 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.510 . @ . . . . . 1 0.438 . . 110.0 . . . . . . . . . . 0.0113 0.222 0.011 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.924 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.302 0.012 . . 37 . 0.332 . . 0.240 . . . 0.155 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.302 . . 0.317 . . . . . . 0 0.574 . . . . . 0.645 . 0.713 . HOM 0.03 . . . . . . . . . . . . . 14.1085 . . V.81 V.81 . 0.090000 . . . . . . 0.795 . . V.81 . . . . . . . . . . . . . . . . . . . 0.820 . 2.228 2.228000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.641 . 0.209 2.228 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs775321736 17 45214654 C T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214654 45214654 Chr17(GRCh37):g.45214654C>T 1795 1795 NM_001114091.3:c.1795G>A p.Ala599Thr p.Ala599Thr 14 116946 73 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 7.67826 0 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs775321736 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245146 15286 33334 9838 17190 30696 111254 22094 5454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 83 Exomes COSM4130200|COSM4130200 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3533 transition G A G>A 1.000 5.451 A Ala GCT 0.263 T Thr ACT 0.243 599 13 13 Baker's yeast 0 0 0 0 0.71 8.I 8.VI 31 61 58 C55 0.00 58.02 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.9108911 . . @ 92 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.942 . @ . . . . . 1 0.993 . . 101.0 . . . . . . . . . . 0.9640 0.903 0.964 c . . . . . 7.103e-05 . . . 9.696e-05 2.211e-05 0 0 0 2.381e-05 0 0 0 1.887e-05 0 0 0.0002 1.843e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.556 . . exonic exonic exonic . . 0.924 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.859 0.186 . . 37 . 0.933 . . 0.948 . . . 0.980 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.694 . . 0 0 0 0 0 0 . 0.629 . . 0.649 . . . . . . 0 0.912 . . . . . 0.878 . 0.874 . HOM 0 rs775321736 . . . . . . . . . . . . 17.5633 . . V.81 V.81 . 0.000000 . . . . . . 0.897 . . V.81 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.820 . 2.761 2.761000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.717 . 0.154 2.761 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs62075620 17 45214669 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214669 45214669 Chr17(GRCh37):g.45214669T>G 1780 1780 NM_001114091.3:c.1780A>C p.Lys594Gln p.Lys594Gln 14 116946 58 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 7.94134 0 Cryptic Acceptor Strongly Activated 45214657 4.95335 0.368216 86.1205 5.32015 0.616048 89.0371 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075620 no no 0 T 0.000000 0 COSM4130202|COSM4130202 Thyroid|Liver 0.001339|0.000422 747|2371 transversion A C A>C 1.000 4.644 K Lys AAA 0.425 Q Gln CAA 0.256 594 13 12 Baker's yeast 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 56.87 XII.95 Deleterious 0.04 3.00 255 PASS . . . . . . . . . . . . . . . . 0.89285713 . . @ 75 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.853 . @ . . . . . 1 0.703 . . 84.0 . . . . . . . . . . 0.7107 0.716 0.711 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.924 @ . . . 0.64 0.57 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.516 0.029 . . 37 . 0.740 . . 0.761 . . . 0.698 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.667 . . 0 0 0 0 0 0 . 0.764 . . 0.641 . . . . . . 0 0.912 . . . . . 0.645 . 0.789 . HOM 0 rs62075620 . . . . . . . . . . . . 14.1085 . . V.81 V.81 . 0.040000 . . . . . . 0.911 . . V.81 . . . . . . . . . . . . . . . . . . . 0.820 . 2.228 2.228000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.725 . 0.209 2.228 0.991 . rs62075620 rs62075620 rs62075620 rs62075620 1 1538 10 1/0 0,255,255 +rs62075621 17 45214673 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45214673 45214673 Chr17(GRCh37):g.45214673T>C 1776 1776 NM_001114091.3:c.1776A>G p.Ala592= p.Ala592Ala 14 116946 54 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 8.25962 0 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075621 no no 0 T 0.000000 0 COSM6263359 Liver 0.001265 2371 transition A G A>G 1.000 0.528 A Ala GCA 0.226 A Ala GCG 0.107 592 255 PASS . . . . . . . . . . . . . . . . 0.8674699 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . . . . . . . . . II.98 . . . . . . . . 7.893e-06 . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.56 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62075621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62075621 rs62075621 rs62075621 rs62075621 1 1538 10 1/0 0,255,255 +rs62075623 17 45214699 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214699 45214699 Chr17(GRCh37):g.45214699T>C 1750 1750 NM_001114091.3:c.1750A>G p.Ser584Gly p.Ser584Gly 14 116946 28 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 VIII.06 0 Cryptic Donor Strongly Activated 45214699 8.1e-05 48.9869 1.25725 0.004113 61.123 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075623 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242856 15120 32584 9832 17068 30216 110862 21824 5350 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 60 Exomes COSM4130206|COSM4130206 Thyroid|Liver 0.005355|0.000844 747|2371 transition A G A>G 1.000 4.644 S Ser AGT 0.149 G Gly GGT 0.162 584 13 13 Baker's yeast 0 0 -1 I.42 0.74 9.II 9 32 3 56 C55 0.00 55.27 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.7692308 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.592 . @ . . . . . 1 0.907 . . 52.0 . . . . . . . . . . 0.6664 0.676 0.666 c . . . . . 1.579e-05 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.924 @ . . . 0.64 0.56 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.535 0.031 . . 37 . 0.565 . . 0.687 . . . 0.980 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.528 . . 0.486 . . . . . . 0 0.599 . . . . . 0.645 . 0.773 . HOM 0 rs62075623 . . . . . . . . . . . . 14.1085 . . V.81 V.81 . 0.010000 . . . . . . 0.891 . . V.81 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.820 . 2.228 2.228000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.725 . 0.209 2.228 0.991 . rs62075623 rs62075623 rs62075623 rs62075623 1 1538 10 1/0 0,255,255 +rs62075659 17 45216210 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45216210 45216210 Chr17(GRCh37):g.45216210A>G 1617 1617 NM_001114091.3:c.1617T>C p.Val539= p.Val539Val 13 116946 48 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.988501 9.17428 0 Tetratricopeptide repeat-containing domain rs62075659 yes no Frequency 1 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 239226 14782 32024 9708 16680 29946 109134 21650 5302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 53 Exomes COSM287917|COSM287917 Liver|Large intestine 0.001687|0.001241 2371|2418 transition T C T>C 0.874 -0.763 V Val GTT 0.178 V Val GTC 0.240 539 255 PASS . . . . . . . . . . . . . . . . 0.86764705 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . I.34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.51 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62075659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.18e-06 0 0 0 0 0 0 3.339e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2311270 rs2311270 rs62075659 rs62075659 1 1538 10 1/0 0,255,255 +rs62077260 17 45216216 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45216216 45216216 Chr17(GRCh37):g.45216216A>G 1611 1611 NM_001114091.3:c.1611T>C p.Tyr537= p.Tyr537Tyr 13 116946 42 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.988501 8.62946 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62077260 no no 0 A 0.000000 0 0.000007 0.000000 0.000030 0.000000 0.000054 0.000000 0.000000 0.000000 0.000000 0.000054 2 0 1 0 1 0 0 0 0 272978 23738 33114 10046 18644 30140 125366 25596 6334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM287919|COSM287919|COSM287919 Upper aerodigestive tract|Liver|Large intestine 0.000804|0.001265|0.000827 1244|2371|2418 transition T C T>C 0.992 0.448 Y Tyr TAT 0.438 Y Tyr TAC 0.562 537 255 PASS . . . . . . . . . . . . . . . . 0.86153847 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . I.90 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.55 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62077260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.132e-06 3.098e-05 0 0 0 0 0 0 0 3.229e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62077260 rs62077260 rs62077260 rs62077260 1 1538 10 1/0 0,255,255 +rs76715333 17 45216231 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45216231 45216231 Chr17(GRCh37):g.45216231T>C 1596 1596 NM_001114091.3:c.1596A>G p.Arg532= p.Arg532Arg 13 116946 27 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.988501 8.38841 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs76715333 no no 0 T 0.000000 0 COSM5453164 Large intestine 0.000414 2418 transition A G A>G 0.992 0.367 R Arg AGA 0.205 R Arg AGG 0.207 532 255 PASS . . . . . . . . . . . . . . . . 0.7704918 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . I.99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.54 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76715333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76715333 rs76715333 1 1538 10 1/0 0,255,255 +rs201607934 17 45216247 A T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45216247 45216247 Chr17(GRCh37):g.45216247A>T 1580 1580 NM_001114091.3:c.1580T>A p.Ile527Lys p.Ile527Lys 13 116946 11 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.992463 8.47546 0.00133603 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs201607934 no no 0 A 0.000000 0 COSM6265173 Liver 0.000422 2371 transversion T A T>A 1.000 4.160 I Ile ATA 0.163 K Lys AAA 0.425 527 13 10 C. elegans -3 -3 -5 0 0.33 5.II 11.III 111 119 102 C15 57.46 83.02 Deleterious 0.01 3.00 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.652 . @ . . . . . 1 0.249 . . 45.0 . . . . . . . . . . 0.4341 0.512 0.434 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.747 . . exonic exonic exonic . . 0.722 @ . . . 0.6 0.58 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . D 0.680 0.060 . . 37 . 0.698 . . 0.718 . . . 0.400 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.600 . . 0 0 0 0 0 0 . 0.442 . . 0.412 . . . . . . 0 0.424 . . . . . 0.582 . 0.756 . HET 0 rs201607934 . . . . . . . . . . . . 13.0557 . . V.22 V.22 . 0.130000 . . . . . . 0.641 . . V.22 . . . . . . . . . . . . . . . . . . . 0.553 . 1.972 1.972000 . . 0.130000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.927 . 0.854 1.972 1.062 . . . rs201607934 rs201607934 1 1538 10 1/0 0,255,255 +rs199927167 17 45216248 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45216248 45216248 Chr17(GRCh37):g.45216248T>G 1579 1579 NM_001114091.3:c.1579A>C p.Ile527Leu p.Ile527Leu 13 116946 10 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.987753 8.37192 -0.000252234 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs199927167 no no 0 T 0.000000 0 COSM6263361 Liver 0.000422 2371 transversion A C A>C 1.000 1.013 I Ile ATA 0.163 L Leu CTA 0.070 527 13 10 C. elegans 2 2 2 0 0 5.II 4.IX 111 111 5 C0 57.46 0.00 Tolerated 0.16 3.00 255 PASS . . . . . . . . . . . . . . . . 0.5777778 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.333 . @ . . . . . 1 0.273 . . 45.0 . . . . . . . . . . -0.3585 -0.172 -0.358 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.736 . . exonic exonic exonic . . 0.478 @ . . . 0.6 0.6 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . T 0.292 0.011 . . 37 . 0.552 . . 0.429 . . . 0.263 0.508 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.166 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.157 . . . . . 0.219 . 0.542 . HET 0.06 rs199927167 . . . . . . . . . . . . VI.63 . . V.22 IV.15 . 0.480000 . . . . . . 0.349 . . IV.15 . . . . . . . . . . . . . . . . . . . 0.553 . 0.839 0.839000 . . 0.480000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.376 . 0.567 0.839 0.991 . rs4071888 rs4071888 rs199927167 rs199927167 1 1538 10 1/0 0,255,255 +rs79201963 17 45219239 C T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219239 45219239 Chr17(GRCh37):g.45219239C>T 1549 1549 NM_001114091.3:c.1549G>A p.Glu517Lys p.Glu517Lys 12 116946 -21 5' 87.864 10.0774 0.991576 1.99166 87.864 10.0774 0.991576 1.51578 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs79201963 no no 0 C 0.000000 0 COSM436752|COSM436752|COSM436752|COSM436752 Thyroid|Liver|Large intestine|Breast 0.001339|0.000422|0.000827|0.000402 747|2371|2418|2490 transition G A G>A 1.000 5.774 E Glu GAA 0.417 K Lys AAA 0.425 517 13 13 Baker's yeast 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C55 0.00 56.87 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.6603774 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.939 . @ . . . . . 1 0.992 . . 53.0 . . . . . . . . . . 0.9670 0.936 0.967 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.751 . . exonic exonic exonic . . 0.955 @ . . . 0.37 0.52 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.755 0.090 . . 37 . 0.875 . . 0.888 . . . 0.758 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.706 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.912 . . . . . 0.885 . 0.913 . HET 0 rs79201963 . . . . . . . . . . . . 17.8151 . . V.92 V.92 . 0.000000 . . . . . . 0.888 . . V.92 . . . . . . . . . . . . . . . . . . . 0.547 . 2.810 2.810000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.848 . 0.490 2.810 0.871 . . . rs79201963 rs79201963 1 1538 10 1/0 0,255,255 +rs80029043 17 45219241 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219241 45219241 Chr17(GRCh37):g.45219241A>C 1547 1547 NM_001114091.3:c.1547T>G p.Phe516Cys p.Phe516Cys 12 116946 -23 5' 87.864 10.0774 0.991576 1.99166 87.864 10.0774 0.991576 2.32159 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs80029043 no no 0 A 0.000000 0 COSM349353|COSM349353|COSM349353|COSM349353 Lung|Liver|Large intestine|Cervix 0.000418|0.000844|0.000827|0.003040 2390|2371|2418|329 transversion T G T>G 1.000 3.111 F Phe TTT 0.454 C Cys TGT 0.448 516 13 12 Baker's yeast -2 -2 -4 0 II.75 5.II 5.V 132 55 205 C55 21.61 191.71 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.6545454 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.395 . @ . . . . . 1 0.348 . . 55.0 . . . . . . . . . . 0.5448 0.612 0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.746 . . exonic exonic exonic . . 0.955 @ . . . 0.4 0.53 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.640 0.049 . . 37 . 0.743 . . 0.786 . . . 0.618 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.880 . . 0 0 0 0 0 0 . 0.476 . . 0.400 . . . . . . 0 0.357 . . . . . 0.659 . 0.872 . HET 0.01 rs80029043 . . . . . . . . . . . . 14.3156 . . V.92 V.92 . 0.060000 . . . . . . 0.835 . . V.92 . . . . . . . . . . . . . . . . . . . 0.547 . 2.267 2.267000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.774 . 0.266 2.267 1.062 . . . rs80029043 rs80029043 1 1538 10 1/0 0,255,255 +rs79415072 17 45219255 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45219255 45219255 Chr17(GRCh37):g.45219255A>G 1533 1533 NM_001114091.3:c.1533T>C p.Ile511= p.Ile511Ile 12 116946 -37 5' 87.864 10.0774 0.991576 1.99166 87.864 10.0774 0.991576 2.67989 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs79415072 no no 0 A 0.000000 0 COSM292500|COSM292500 Liver|Large intestine 0.000844|0.000414 2371|2418 transition T C T>C 1.000 0.609 I Ile ATT 0.356 I Ile ATC 0.481 511 255 PASS . . . . . . . . . . . . . . . . 0.7037037 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . I.69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.51 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79415072 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . rs79415072 rs79415072 1 1538 10 1/0 0,255,255 +rs796538886 17 45219329 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219329 45219329 Chr17(GRCh37):g.45219329A>C 1459 1459 NM_001114091.3:c.1459T>G p.Cys487Gly p.Cys487Gly 12 116946 63 3' 86.146 7.48905 0.825246 4.47221 86.146 7.48905 0.825246 4.59684 0 rs796538886 no no 0 A 0.000000 0 transversion T G T>G 1.000 4.725 C Cys TGC 0.552 G Gly GGC 0.342 487 13 11 Fruitfly -3 -3 -6 II.75 0.74 5.V 9 55 3 159 C0 236.02 29.38 Tolerated 0.25 3.00 255 PASS . . . . . . . . . . . . . . . . 0.3783784 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.684 . @ . . . . . 1 0.400 . . 37.0 . . . . . . . . . . 0.8384 0.842 0.838 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.726 . . exonic exonic exonic . . 0.955 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.709 0.070 . . 37 . 0.812 . . 0.832 . . . 0.694 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.984 . . 0 0 0 0 0 0 . 0.764 . . 0.692 . . . . . . 0 0.546 . . . . . 0.659 . 0.973 . HET 0.02 . . . . . . . . . . . . . 14.3156 . . V.92 V.92 . 0.010000 . . . . . . 0.877 . . V.92 . . . . . . . . . . . . . . . . . . . 0.820 . 2.267 2.267000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.945 . 0.960 2.267 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs62077261 17 45219332 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219332 45219332 Chr17(GRCh37):g.45219332T>G 1456 1456 NM_001114091.3:c.1456A>C p.Asn486His p.Asn486His 12 116946 60 3' 86.146 7.48905 0.825246 4.47221 86.146 7.48905 0.825246 4.44676 0 rs62077261 yes no Frequency 1 T 0.000000 0 0.000173 0.000086 0.000538 0.000000 0.000455 0.000034 0.000098 0.000159 0.000325 0.000538 46 2 17 0 8 1 12 4 2 265262 23164 31588 9732 17564 29344 122610 25106 6154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 2 17 0 8 1 12 4 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4130226 Thyroid 0.009371 747 transversion A C A>C 1.000 4.725 N Asn AAC 0.536 H His CAC 0.587 486 13 12 Baker's yeast 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 45.75 24.VIII Deleterious 0.02 3.00 242 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.348 . @ . . . . . 1 0.771 . . 35.0 . . . . . . . . . . 0.7111 0.742 0.711 c . . . . . 1.429e-03 . . . 0.0013 0.0009 0.0003 0.0005 0 0.0007 0 0.0020 0.0014 0.0009 0.0003 0.0010 0 0.0006 0 0.0020 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.737 . . exonic exonic exonic . . 0.955 @ . . . 0.38 0.59 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.507 0.028 . . 37 . 0.795 . . 0.806 . . . 0.424 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.295 . . 0 0 0 0 0 0 . 0.689 . . 0.605 . . . . . . 0 0.501 . . . . . 0.659 . 0.662 . HET 0.07 rs62077261 . . . . . . . . . . . . 14.3157 . . V.92 V.92 . 0.050000 . . . . . . 0.830 . . V.92 0.0001 0.0002 0.0006 0 0.0005 0.0002 0.0001 0.0004 3.408e-05 0 0 0 0 0 0 0 0 . . 0.547 . 2.267 2.267000 . . 0.050000 . . 1.0E-242 1.000 0.715 . 0.888 0.999 . 0.871 . 0.807 2.267 0.991 . rs62077261 rs62077261 rs62077261 rs62077261 1 1538 10 1/0 0,255,255 +rs796673584 17 45219336 T A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45219336 45219336 Chr17(GRCh37):g.45219336T>A 1452 1452 NM_001114091.3:c.1452A>T p.Ser484= p.Ser484Ser 12 116946 56 3' 86.146 7.48905 0.825246 4.47221 86.146 7.48905 0.825246 4.18703 0 rs796673584 no no 0 T 0.000000 0 COSM5021949 Bone 0.001757 569 transversion A T A>T 0.142 -1.570 S Ser TCA 0.148 S Ser TCT 0.185 484 228 PASS . . . . . . . . . . . . . . . . 0.24242425 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . 0.6637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs79929872 17 45219646 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219646 45219646 Chr17(GRCh37):g.45219646A>C 1345 1345 NM_001114091.3:c.1345T>G p.Ser449Ala p.Ser449Ala 11 116946 -52 5' 79.9438 6.84237 0.414393 0 79.9438 6.84237 0.414393 0 0 rs79929872 no no 0 A 0.000000 0 COSM4130228 Thyroid 0.001339 747 transversion T G T>G 0.992 0.125 S Ser TCC 0.220 A Ala GCC 0.403 449 13 8 C. elegans 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 222.42 0.00 Tolerated 0.35 3.I 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.197 . . 25.0 . . . . . . . . . . -0.8596 -0.675 -0.860 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.667 . . exonic exonic exonic . . 0.171 @ . . . 0.56 0.44 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.327 . . . . T 0.148 0.006 . . 37 . 0.358 . . 0.338 . . . 0.225 0.323 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.051 . . . . . 0.032 . 0.560 . HET 0.65 rs79929872 . . . . . . . . . . . . I.96 . . V.58 0.683 . 1.000000 . . . . . . 0.415 . . . . . . . . . . . . . . . . . . . . . . 0.988 . -0.177 -0.177000 . . 1.000000 . . 1.0000000000000001E-227 1.000 0.715 . 0.574 0.998 . 0.312 . 0.102 -0.177 0.079 . . . rs79929872 rs79929872 1 1538 10 1/0 0,255,255 +rs74547959 17 45219746 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45219746 45219746 Chr17(GRCh37):g.45219746T>G 1245 1245 NM_001114091.3:c.1245A>C p.Thr415= p.Thr415Thr 11 116946 57 3' 92.3205 IX.94 0.944771 5.49721 92.3205 IX.94 0.944771 5.49748 0 rs74547959 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 179536 11122 25618 8626 12916 24734 73200 18982 4338 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM4130238|COSM4130238 Thyroid|Liver 0.001339|0.000422 747|2371 transversion A C A>C 0.992 -0.037 T Thr ACA 0.280 T Thr ACC 0.361 415 209 PASS . . . . . . . . . . . . . . . . 0.18604651 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 2.1862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.56 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74612656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs74547959 rs74547959 1 1538 10 1/0 0,255,255 +rs74727415 17 45219750 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219750 45219750 Chr17(GRCh37):g.45219750T>C 1241 1241 NM_001114091.3:c.1241A>G p.Lys414Arg p.Lys414Arg 11 116946 53 3' 92.3205 IX.94 0.944771 5.49721 92.3205 IX.94 0.944771 5.66117 0 rs74727415 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 179344 11148 25540 8620 12914 24682 73154 18962 4324 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 46 Exomes COSM4130240|COSM4130240 Thyroid|Liver 0.001339|0.000422 747|2371 transition A G A>G 1.000 4.402 K Lys AAA 0.425 R Arg AGA 0.205 414 13 10 Fruitfly 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 238.76 13.90 Tolerated 0.15 3.I 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.508 . @ . . . . . 1 0.910 . . 45.0 . . . . . . . . . . 0.5165 0.565 0.516 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.708 . . exonic exonic exonic . . 0.789 @ . . . 0.63 0.59 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.638 0.049 . . 37 . 0.691 . . 0.691 . . . 0.397 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.561 . . 0.488 . . . . . . 0 0.272 . . . . . 0.604 . 0.736 . HET 0.11 rs74727415 . . . . . . . . . . . . 13.4428 . . V.43 V.43 . 0.200000 . . . . . . 0.617 . . V.43 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.988 . 2.074 2.074000 . . 0.200000 . . 1.0E-198 1.000 0.715 . 0.888 1.000 . 0.869 . 0.635 2.074 0.991 . . . rs74727415 rs74727415 1 1538 10 1/0 0,255,255 +rs1064545 17 45221251 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221251 45221251 Chr17(GRCh37):g.45221251T>C 1186 1186 NM_001114091.3:c.1186A>G p.Lys396Glu p.Lys396Glu 10 116946 -3 5' 87.3006 8.82915 0.978094 3.96241 84.5526 8.87846 0.958192 3.41242 -0.0154136 rs1064545 no no 0 T 0.000000 0 COSM4130244|COSM4130244 Thyroid|Liver 0.001339|0.000844 747|2371 transition A G A>G 1.000 4.483 K Lys AAG 0.575 E Glu GAG 0.583 396 13 9 C. elegans 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 0.4 3.I 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.680 . @ . . . . . 1 0.901 . . 25.0 . . . . . . . . . . 0.5706 0.593 0.571 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.714 . . exonic exonic exonic . . 0.846 @ . . . 0.62 0.65 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.723 0.075 . . 37 . 0.784 . . 0.755 . . . 0.421 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.715 . . 0.617 . . . . . . 0 0.195 . . . . . 0.619 . 0.855 . HET 0.01 rs1064545 . . . . . . . . . . . . 13.7041 . . V.59 V.59 . 0.630000 . 0.2480 0.454 . . . 0.949 . . V.59 . . . . . . . . . . . . . . . . . . . 0.988 . 2.129 2.129000 . . 0.630000 . . 1.0000000000000001E-227 1.000 0.715 . 0.888 1.000 . 0.869 . 0.807 2.129 0.991 . rs1064545 rs1064545 rs1064545 rs1064545 1 1538 10 1/0 0,255,255 +rs1141701 17 45221273 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221273 45221273 Chr17(GRCh37):g.45221273A>C 1164 1164 NM_001114091.3:c.1164T>G p.Phe388Leu p.Phe388Leu 10 116946 -25 5' 87.3006 8.82915 0.978094 3.96241 87.3006 8.82915 0.978094 5.1398 0 rs1141701 no no 0 A 0.000000 0 COSM4130246|COSM4130246|COSM4130246 Thyroid|Liver|Large intestine 0.004016|0.000422|0.000414 747|2371|2418 transversion T G T>G 0.992 -0.037 F Phe TTT 0.454 L Leu TTG 0.127 388 13 9 Fruitfly 1 0 0 0 0 5.II 4.IX 132 111 22 C0 353.86 0.00 Tolerated 1 3.I 255 PASS . . . . . . . . . . . . . . . . 0.76842105 . . @ 73 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.775 . @ . . . . . 1 0.788 . . 95.0 . . . . . . . . . . -0.0112 -0.045 -0.011 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.712 . . exonic exonic exonic . . 0.103 @ . . . 0.51 0.49 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.729 0.078 . . 37 . 0.657 . . 0.623 . . . 0.488 0.530 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.716 . . 0 0 0 0 0 0 . 0.512 . . 0.473 . . . . . . 0 0.395 . . . . . 0.402 . 0.840 . HOM 0 rs1141701 . . . . . . . . . . . . IX.29 . . V.59 -0.796 . 0.220000 . . . . . . 0.715 . . . . . . . . . . . . . . . . . . . . . . 0.988 . -0.182 -0.182000 . . 0.220000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.291 . 0.263 -0.182 0.090 . rs1141701 rs1141701 rs1141701 rs1141701 1 1538 10 1/0 0,255,252 +rs77440865 17 45221286 C T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221286 45221286 Chr17(GRCh37):g.45221286C>T 1151 1151 NM_001114091.3:c.1151G>A p.Ser384Asn p.Ser384Asn 10 116946 -38 5' 87.3006 8.82915 0.978094 3.96241 87.3006 8.82915 0.978094 4.02773 0 Cryptic Acceptor Weakly Activated 45221267 1.23935 0.013237 70.1401 1.73576 0.014514 70.1401 rs77440865 yes no Frequency 1 C 0.000000 0 0.000813 0.000050 0.002699 0.000685 0.000543 0.002146 0.000452 0.000408 0.000200 0.002699 185 1 61 6 7 49 50 10 1 227484 20192 22600 8760 12892 22834 110674 24534 4998 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 185 1 61 6 7 49 50 10 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM304850|COSM304850|COSM304850 Thyroid|Prostate|Large intestine 0.002677|0.000567|0.000414 747|1764|2418 transition G A G>A 1.000 5.451 S Ser AGT 0.149 N Asn AAT 0.464 384 13 10 C. elegans 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.07 3.I 255 PASS . . . . . . . . . . . . . . . . 0.75609756 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.922 . @ . . . . . 1 0.756 . . 82.0 . . . . . . . . . . 0.7841 0.779 0.784 c . . . . . 4.578e-04 . . . 0.0003 0.0003 0.0004 0.0005 0.0003 0.0002 0 0.0004 0.0003 0.0003 0.0005 0.0004 0.0003 0.0003 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.820 . . exonic exonic exonic . . 0.846 @ . . . 0.58 0.56 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.777 0.102 . . 37 . 0.895 . . 0.902 . . . 0.728 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . 0.715 . . 0.617 . . . . . . 0 0.912 . . . . . 0.864 . 0.513 . HOM 0 rs77440865 . . . . . . . . . . . . 17.0697 . . V.59 V.59 . 0.030000 . . . . . . 0.950 . . V.59 8.699e-05 0.0009 0.0028 0.0007 0.0006 0.0003 0.0005 0.0002 0.0021 0 9.778e-05 0 0 0 0.0009 0 0 . . 0.988 . 2.635 2.635000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.822 . 0.490 2.635 0.871 . . . rs77440865 rs77440865 1 1538 10 1/0 0,255,255 +rs76836956 17 45221303 G A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45221303 45221303 Chr17(GRCh37):g.45221303G>A 1134 1134 NM_001114091.3:c.1134C>T p.Asn378= p.Asn378Asn 10 116946 46 3' 86.0437 7.22637 0.895153 5.01943 86.0437 7.22637 0.895153 4.53814 0 rs76836956 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000843 0.000100 0.002735 0.000923 0.000316 0.002353 0.000492 0.000328 0.000000 0.002735 190 2 61 8 4 53 54 8 0 225298 20048 22306 8670 12660 22526 109712 24416 4960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 190 2 61 8 4 53 54 8 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4130250|COSM4130250 Thyroid|Thymus 0.002677|0.006579 747|152 transition C T C>T 0.953 -0.360 N Asn AAC 0.536 N Asn AAT 0.464 378 255 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.81395346 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . 0.8902 . . . . . . . . 2.368e-04 . . . 0.0002 0.0001 8.983e-05 0 0.0003 7.411e-05 0 0.0001 0.0002 0.0001 9.251e-05 0 0.0002 9.517e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.54 0.48 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76836956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.812e-05 0.0010 0.0028 0.0010 0.0004 0.0002 0.0006 0 0.0024 0.0001 0.0001 0 0 0 0.0009 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1064548 rs1064548 rs76836956 rs76836956 1 1538 10 1/0 0,255,255 +rs79454290 17 45221317 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221317 45221317 Chr17(GRCh37):g.45221317T>C 1120 1120 NM_001114091.3:c.1120A>G p.Thr374Ala p.Thr374Ala 10 116946 32 3' 86.0437 7.22637 0.895153 5.01943 86.0437 7.22637 0.895153 5.63661 0 rs79454290 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 203166 11372 24286 9032 11322 24496 96970 21444 4244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM2155332 Central nervous system 0.000416 2405 transition A G A>G 1.000 0.609 T Thr ACA 0.280 A Ala GCA 0.226 374 13 5 Dog 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.54 3.I 255 PASS . . . . . . . . . . . . . . . . 0.84810126 . . @ 67 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.070 . . 79.0 . . . . . . . . . . -1.0511 -0.805 -1.051 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.658 . . exonic exonic exonic . . 0.310 @ . . . 0.62 0.52 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.497 . . . . T 0.177 0.007 . . 37 . 0.293 . . 0.207 . . . 0.014 0.248 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.027 . . . . . 0.239 . 0.472 . HOM 0.47 rs79454290 . . . . . . . . . . . . 7.0206 . . V.29 II.71 . 0.660000 . . . . . . 0.513 . . II.71 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.988 . 0.397 0.397000 . . 0.660000 . . 1.0E-255 1.000 0.715 . 0.463 0.988 . 0.498 . 0.100 0.397 0.079 . . . rs79454290 rs79454290 1 1538 10 1/0 0,255,255 +rs77739281 17 45221318 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221318 45221318 Chr17(GRCh37):g.45221318A>C 1119 1119 NM_001114091.3:c.1119T>G p.Ile373Met p.Ile373Met 10 116946 31 3' 86.0437 7.22637 0.895153 5.01943 86.0437 7.22637 0.895153 6.23286 0 rs77739281 yes no Frequency 1 A 0.000000 0 0.001249 0.000101 0.004168 0.001654 0.000588 0.003257 0.000680 0.000453 0.001657 0.004168 274 2 88 14 7 71 73 11 8 219408 19750 21114 8464 11898 21800 107296 24258 4828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 274 2 88 14 7 71 73 11 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM2155296|COSM2155296|COSM2155296|COSM2155296 Thyroid|Liver|Central nervous system|Bone 0.001339|0.000422|0.000416|0.001757 747|2371|2405|569 transversion T G T>G 0.992 0.205 I Ile ATT 0.356 M Met ATG 1.000 373 13 8 Zebrafish 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Deleterious 0.05 3.I 255 PASS . . . . . . . . . . . . . . . . 0.85714287 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.220 . @ . . . . . 1 0.141 . . 84.0 . . . . . . . . . . -0.3985 -0.269 -0.399 c . . . . . 3.789e-04 . . . 0.0002 0.0002 0.0003 0 0.0003 0.0002 0 6.569e-05 0.0002 0.0002 0.0003 0 0.0002 0.0002 0 6.607e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.659 . . exonic exonic exonic . . 0.216 @ . . . 0.58 0.46 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.240 0.009 . . 37 . 0.413 . . 0.224 . . . 0.094 0.508 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 0 0 . 0.198 . . 0.145 . . . . . . 0 0.341 . . . . . 0.059 . 0.622 . HOM 0.13 rs77739281 . . . . . . . . . . . . 3.0877 . . V.29 I.45 . 0.120000 . . . . . . 0.567 . . . 0.0002 0.0014 0.0043 0.0017 0.0007 0.0004 0.0008 0.0021 0.0033 0 6.515e-05 0 0 0 0.0006 0 0 . . 0.988 . 0.556 0.556000 . . 0.120000 . . 1.0E-255 1.000 0.715 . 0.461 0.987 . 0.393 . 0.057 0.556 -0.598 . . . rs77739281 rs77739281 1 1538 10 1/0 0,255,253 +rs200834582 17 45229253 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45229253 45229253 Chr17(GRCh37):g.45229253T>G 1007 1007 NM_001114091.3:c.1007A>C p.Lys336Thr p.Lys336Thr 9 116946 50 3' 65.6713 2.11303 0.027872 0 65.6713 2.11303 0.027872 0 0 Cryptic Donor Strongly Activated 45229253 0.014255 67.5011 1.46272 0.033258 66.3261 rs200834582 no no 0 T 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 0.000190 0.000034 2 0 0 0 0 1 0 0 1 241478 15164 31558 9820 17018 29330 111058 22264 5266 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 RF 58 Exomes COSM6264105|COSM6264105 Liver|Large intestine 0.000422|0.000414 2371|2418 transversion A C A>C 1.000 3.837 K Lys AAG 0.575 T Thr ACG 0.116 336 13 10 Baker's yeast -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 353.86 0.00 Deleterious 0.04 3.I 255 PASS . . . . . . . . . . . . . . . . 0.64705884 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.594 . @ . . . . . 1 0.780 . . 68.0 . . . . . . . . . . 0.2890 0.407 0.289 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.692 . . exonic exonic exonic . . 0.817 @ . . . 0.38 0.55 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.479 0.025 . . 37 . 0.572 . . 0.556 . . . 0.562 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.489 . . 0.465 . . . . . . 0 0.546 . . . . . 0.615 . 0.837 . HET 0.15 rs200834582 . . . . . . . . . . . . 13.6227 . . V.51 V.51 . 0.320000 . . . . . . 0.745 . . V.51 0 8.282e-06 0 0 0 0 0 0.0002 3.409e-05 . . . . . . . . . . 0.730 . 2.110 2.110000 . . 0.320000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.764 . 0.624 2.110 0.991 . . . rs200834582 rs200834582 1 1538 10 1/0 0,255,255 +rs201804958 17 45229254 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45229254 45229254 Chr17(GRCh37):g.45229254T>G 1006 1006 NM_001114091.3:c.1006A>C p.Lys336Gln p.Lys336Gln 9 116946 49 3' 65.6713 2.11303 0.027872 0 65.6713 2.11303 0.027872 0 0 Cryptic Acceptor Weakly Activated 45229236 7.18993 0.882068 86.5054 8.61246 0.937881 86.5054 rs201804958 no no 0 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000190 0.000000 1 0 0 0 0 0 0 0 1 241578 15182 31568 9816 17040 29344 111088 22264 5276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 58 Exomes transversion A C A>C 1.000 3.837 K Lys AAG 0.575 Q Gln CAG 0.744 336 13 10 Baker's yeast 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 353.86 0.00 Tolerated 0.08 3.I 255 PASS . . . . . . . . . . . . . . . . 0.6376812 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.382 . @ . . . . . 1 0.366 . . 69.0 . . . . . . . . . . 0.2073 0.337 0.207 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.689 . . exonic exonic exonic . . 0.817 @ . . . 0.38 0.55 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.445 0.022 . . 37 . 0.572 . . 0.556 . . . 0.339 0.537 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.489 . . 0.465 . . . . . . 0 0.512 . . . . . 0.615 . 0.791 . HET 0.24 rs201804958 . . . . . . . . . . . . 13.6227 . . V.51 V.51 . 0.320000 . . . . . . 0.693 . . V.51 0 4.139e-06 0 0 0 0 0 0.0002 0 . . . . . . . . . . 0.730 . 2.110 2.110000 . . 0.320000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.686 . 0.624 2.110 0.991 . . . rs201804958 rs201804958 1 1538 10 1/0 0,255,255 +rs111414808 17 45229261 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45229261 45229261 Chr17(GRCh37):g.45229261A>G 999 999 NM_001114091.3:c.999T>C p.Thr333= p.Thr333Thr 9 116946 42 3' 65.6713 2.11303 0.027872 0 65.6713 2.11303 0.027872 0 0 rs111414808 yes no Frequency 1 A 0.000000 0 0.000040 0.000000 0.000000 0.000000 0.000000 0.000171 0.000032 0.000000 0.000320 0.000171 11 0 0 0 0 5 4 0 2 272356 23924 32338 10114 18642 29268 126058 25758 6254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 5 4 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4130252|COSM4130252 Thyroid|Liver 0.001339|0.000844 747|2371 transition T C T>C 1.000 0.932 T Thr ACT 0.243 T Thr ACC 0.361 333 255 PASS . . . . . . . . . . . . . . . . 0.6197183 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . I.54 . . . . . . . . 3.157e-05 . . . 0 4.419e-05 0 0 0 7.132e-05 0 6.106e-05 0 1.887e-05 0 0 0 1.842e-05 0 6.141e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.5 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111414808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.43 0 4.143e-05 0 0 0 0 2.701e-05 0.0004 0.0002 0 3.229e-05 0 0 0 0 6.663e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111414808 rs111414808 1 1538 10 1/0 0,255,255 +rs62077263 17 45234298 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234298 45234298 Chr17(GRCh37):g.45234298G>C 823 823 NM_001114091.3:c.823C>G p.Leu275Val p.Leu275Val 7 116946 -20 5' 99.6933 X.84 0.99854 1.07431 99.6933 X.84 0.99854 0.480636 0 rs62077263 no no 0 G 0.000000 0 0.000025 0.000000 0.000000 0.000000 0.000000 0.000067 0.000009 0.000091 0.000185 0.000091 6 0 0 0 0 2 1 2 1 243148 15206 33022 9700 17154 29926 110656 22074 5410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 2 1 2 1 0 0 0 0 0 0 0 0 0 RF 53 Exomes COSM4130254|COSM4130254|COSM4130254 Thyroid|Liver|Large intestine 0.004016|0.001265|0.000414 747|2371|2418 transversion C G C>G 1.000 5.129 L Leu CTT 0.129 V Val GTT 0.178 275 13 8 Zebrafish 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.69 3.I 255 PASS . . . . . . . . . . . . . . . . 0.65384614 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.363 . @ . . . . . 1 0.586 . . 78.0 . . . . . . . . . . 0.3692 0.458 0.369 c . . . . . 2.368e-05 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.864 @ . . . 0.6 0.67 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.499 0.027 . . 37 . 0.693 . . 0.629 . . . 0.543 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.689 . . 0.660 . . . . . . 0 0.363 . . . . . 0.867 . 0.737 . HET 0.07 rs62077263 . . . . . . . . . . . . 17.2083 . . V.64 V.64 . 0.510000 . . . . . . 0.769 . . V.64 0 2.468e-05 0 0 0 9.06e-05 9.037e-06 0.0002 6.683e-05 . . . . . . . . . . 0.000 . 2.665 2.665000 . . 0.510000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.631 . 0.613 2.665 0.917 . rs62077263 rs62077263 rs62077263 rs62077263 1 1538 10 1/0 0,255,255 +rs113206140 17 45234331 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234331 45234331 Chr17(GRCh37):g.45234331T>G 790 790 NM_001114091.3:c.790A>C p.Thr264Pro p.Thr264Pro 7 116946 -53 5' 99.6933 X.84 0.99854 1.07431 99.6933 X.84 0.99854 1.29825 0 rs113206140 no no 0 T 0.000000 0 COSM4130256|COSM4130256|COSM4130256 Thyroid|Stomach|Large intestine 0.001339|0.001161|0.000414 747|861|2418 transversion A C A>C 1.000 4.241 T Thr ACT 0.243 P Pro CCT 0.283 264 13 8 C. elegans -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Deleterious 0.05 3.I 228 PASS . . . . . . . . . . . . . . . . 0.23655914 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.370 . @ . . . . . 1 0.363 . . 93.0 . . . . . . . . . . -0.0479 0.184 -0.048 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.864 @ . . . 0.62 0.68 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.441 0.021 . . 37 . 0.440 . . 0.473 . . . 0.046 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . 0.360 . . 0.316 . . . . . . 0 0.276 . . . . . 0.626 . 0.787 . HET 0.04 rs113206140 . . . . . . . . . . . . 13.8182 . . V.64 V.64 . 0.310000 . . . . . . 0.811 . . V.64 . . . . . . . . . . . . . . . . . . . 0.820 . 2.153 2.153000 . . 0.310000 . . 1.0E-228 1.000 0.715 . 0.888 1.000 . 0.804 . 0.635 2.153 0.991 . . . rs113206140 rs113206140 1 1538 10 1/0 0,241,255 +rs3208659 17 45234343 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234343 45234343 Chr17(GRCh37):g.45234343T>G 778 778 NM_001114091.3:c.778A>C p.Asn260His p.Asn260His 7 116946 -65 5' 99.6933 X.84 0.99854 1.07431 99.6933 X.84 0.99854 1.53521 0 rs3208659 no no 0 T 0.000000 0 COSM4130258|COSM4130258|COSM4130258 Upper aerodigestive tract|Thyroid|Liver 0.000804|0.001339|0.001687 1244|747|2371 transversion A C A>C 1.000 4.241 N Asn AAT 0.464 H His CAT 0.413 260 13 8 Zebrafish 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 353.86 0.00 Tolerated 0.26 3.I 255 PASS . . . . . . . . . . . . . . . . 0.93203884 . . @ 96 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.539 . @ . . . . . 1 0.455 . . 103.0 . . . . . . . . . . 0.3776 0.484 0.378 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.672 . . exonic exonic exonic . . 0.864 @ . . . 0.61 0.68 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.559 . . . . D 0.591 0.040 . . 37 . 0.566 . . 0.584 . . . 0.552 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.227 . . 0 0 0 0 0 0 . 0.516 . . 0.470 . . . . . . 0 0.416 . . . . . 0.626 . 0.637 . HOM 0.07 rs3208659 . . . . . . . . . . . . 13.8182 . . V.64 V.64 . 0.180000 . . . . . . 0.811 . . V.64 . . . . . . . . . . . . . . . . . . . 0.820 . 2.153 2.153000 . . 0.180000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.804 . 0.635 2.153 0.991 . rs3208659 rs3208659 rs3208659 rs3208659 1 1538 10 1/0 0,247,244 +rs75241171 17 45234434 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45234434 45234434 Chr17(GRCh37):g.45234434A>G 687 687 NM_001114091.3:c.687T>C p.Asp229= p.Asp229Asp 7 116946 57 3' 96.9875 7.74155 0.740611 0 96.9875 7.74155 0.740611 0 0 rs75241171 no no 0 A 0.000000 0 COSM4130268 Thyroid 0.001339 747 transition T C T>C 1.000 1.174 D Asp GAT 0.461 D Asp GAC 0.539 229 255 PASS . . . . . . . . . . . . . . . . 0.875 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . I.30 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.64 0.64 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs75241171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75241171 rs75241171 1 1538 10 1/0 0,255,255 +rs77095606 17 45234477 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234477 45234477 Chr17(GRCh37):g.45234477A>C 644 644 NM_001114091.3:c.644T>G p.Leu215Trp p.Leu215Trp 7 116946 14 3' 96.9875 7.74155 0.740611 0 96.9875 7.74155 0.69877 0 -0.0188317 rs77095606 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30976 8734 838 302 1620 0 15006 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes COSM4130270|COSM4130270|COSM4130270|COSM4130270 Thyroid|Lung|Liver|Bone 0.002677|0.000418|0.000844|0.001757 747|2390|2371|569 transversion T G T>G 1.000 4.322 L Leu TTG 0.127 W Trp TGG 1.000 215 13 7 Zebrafish -2 -2 -4 0 0.13 4.IX 5.IV 111 170 61 C0 353.86 0.00 Deleterious 0.03 III.38 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.514 . @ . . . . . 1 0.209 . . 34.0 . . . . . . . . . . 0.5016 0.601 0.502 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.679 . . exonic exonic exonic . . 0.927 @ . . . 0.61 0.65 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.376 . . . . D 0.511 0.028 . . 37 . 0.672 . . 0.716 . . . 0.552 0.548 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.334 . . 0 0 0 0 0 0 . 0.689 . . 0.627 . . . . . . 0 0.365 . . . . . 0.648 . 0.907 . HET 0.03 rs77095606 . . . . . . . . . . . . 14.1506 . . V.82 V.82 . 0.020000 . . . . . . 0.869 . . V.82 . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.547 . 2.227 2.227000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.912 . 0.911 2.227 1.062 . . . rs77095606 rs77095606 1 1538 10 1/0 0,255,255 +rs78043820 17 45234481 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234481 45234481 Chr17(GRCh37):g.45234481T>C 640 640 NM_001114091.3:c.640A>G p.Arg214Gly p.Arg214Gly 7 116946 10 3' 96.9875 7.74155 0.740611 0 96.9875 7.74155 0.794951 0 0.0244573 Cryptic Acceptor Strongly Activated 45234468 0.000176 2.53116 0.000366 63.388 rs78043820 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30978 8736 838 302 1622 0 15008 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes COSM4130272|COSM4130272|COSM4130272 Thyroid|Liver|Bone 0.001339|0.000422|0.001757 747|2371|569 transition A G A>G 1.000 2.788 R Arg AGA 0.205 G Gly GGA 0.246 214 13 8 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Tolerated 0.17 III.38 235 PASS . . . . . . . . . . . . . . . . 0.2647059 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.789 . . 34.0 . . . . . . . . . . -0.0764 0.154 -0.076 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.668 . . exonic exonic exonic . . 0.927 @ . . . 0.58 0.68 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.551 0.033 . . 37 . 0.493 . . 0.476 . . . 0.409 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.297 . . 0.267 . . . . . . 0 0.098 . . . . . 0.648 . 0.968 . HET 0.3 rs78043820 . . . . . . . . . . . . 14.1506 . . V.82 V.82 . 0.450000 . . . . . . 0.654 . . V.82 . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.547 . 2.227 2.227000 . . 0.450000 . . 1.0E-235 1.000 0.715 . 0.888 1.000 . 0.698 . 0.757 2.227 0.991 . . . rs78043820 rs78043820 1 1538 10 1/0 0,255,255 +rs75204938 17 45234486 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution stop gain exon GRCh37 45234486 45234486 Chr17(GRCh37):g.45234486A>C 635 635 NM_001114091.3:c.635T>G p.Leu212* p.Leu212* 7 116946 5 3' 96.9875 7.74155 0.740611 0 96.9875 7.74155 0.771398 0 0.0138566 rs75204938 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30980 8736 838 302 1620 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes COSM4130274|COSM4130274|COSM4130274 Thyroid|Liver|Large intestine 0.001339|0.000422|0.000414 747|2371|2418 transversion T G T>G 1.000 2.707 L Leu TTA 0.073 * * TGA 0.489 212 226 PASS . . . . . . . . . . . . . . . . 0.23529412 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.974 . @ . . . . . 0 0.468 . . 34.0 . . . . . . . . . . 0.9651 0.852 0.965 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.927 @ . . . 0.59 0.66 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.504 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.648 . . . HET 0.12 rs75204938 . . . . . . . . . . . . 14.1506 . . V.82 V.82 . 0.710000 . . . . . . 0.744 . . V.82 . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.547 . 2.227 2.227000 . . 0.710000 . . 1.0000000000000001E-226 1.000 0.715 . 0.888 1.000 . 0.747 . 0.911 2.227 1.062 . . . rs75204938 rs75204938 1 1538 10 1/0 0,255,255 +rs149474782 17 45234685 G A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234685 45234685 Chr17(GRCh37):g.45234685G>A 541 541 NM_001114091.3:c.541C>T p.Pro181Ser p.Pro181Ser 6 116946 66 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.4961 0 rs149474782 no no 0 G 0.000000 0 COSM5453096 Large intestine 0.000414 2418 transition C T C>T 1.000 3.192 P Pro CCC 0.328 S Ser TCC 0.220 181 13 7 Frog -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.57 III.53 233 PASS . . . . . . . . . . . . . . . . 0.25714287 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.193 . @ . . . . . 1 0.173 . . 35.0 . . . . . . . . . . -0.1750 0.056 -0.175 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.667 . . exonic exonic exonic . . 0.775 @ . . . 0.65 0.56 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.165 0.006 . . 37 . 0.495 . . 0.459 . . . 0.082 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.024 . . 0 0 0 0 0 0 . 0.102 . . 0.093 . . . . . . 0 0.042 . . . . . 0.850 . 0.570 . HET 0.48 rs149474782 0.043 0.036 . . . . . . . . . . 16.6644 . . V.39 V.39 . 0.740000 . . . . . . 0.520 . . V.39 . . . . . . . . . . . . . . . . . . . 0.547 . 2.538 2.538000 . . 0.740000 . . 1.0000000000000001E-233 1.000 0.715 . 0.604 0.998 . 0.614 . 0.665 2.538 0.917 0.043 . . rs149474782 rs149474782 1 1538 10 1/0 0,255,255 +rs140171160 17 45234689 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45234689 45234689 Chr17(GRCh37):g.45234689A>G 537 537 NM_001114091.3:c.537T>C p.Cys179= p.Cys179Cys 6 116946 62 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.5039 0 rs140171160 no no 0 A 0.000000 0 COSM5453098|COSM5453098 Liver|Large intestine 0.000422|0.000414 2371|2418 transition T C T>C 1.000 2.627 C Cys TGT 0.448 C Cys TGC 0.552 179 235 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . II.42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.64 0.57 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140171160 0.043 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . IV.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.043 rs1058520 rs1058520 rs140171160 rs140171160 1 1538 10 1/0 0,255,255 +rs147617501 17 45234702 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234702 45234702 Chr17(GRCh37):g.45234702T>C 524 524 NM_001114091.3:c.524A>G p.Asn175Ser p.Asn175Ser 6 116946 49 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.2876 0 rs147617501 no no 0 T 0.000000 0 COSM5763793 Large intestine 0.000414 2418 transition A G A>G 1.000 3.999 N Asn AAC 0.536 S Ser AGC 0.243 175 13 8 Zebrafish 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.54 III.53 255 PASS . . . . . . . . . . . . . . . . 0.45614034 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.170 . @ . . . . . 1 0.215 . . 57.0 . . . . . . . . . . -0.2165 0.019 -0.216 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.685 . . exonic exonic exonic . . 0.775 @ . . . 0.64 0.56 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.236 0.009 . . 37 . 0.470 . . 0.420 . . . 0.440 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.112 . . 0.158 . . . . . . 0 0.143 . . . . . 0.600 . 0.396 . HET 0.3 rs147617501 0.315 0.268 . . . . . . . . . . 13.3763 . . V.39 V.39 . 0.760000 . . . . . . 0.592 . . V.39 . . . . . . . . . . . . . . . . . . . 0.547 . 2.053 2.053000 . . 0.760000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.657 . 0.757 2.053 0.991 0.32 rs1058509 rs1058509 rs147617501 rs147617501 1 1538 10 1/0 0,255,255 +rs143453365 17 45234706 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234706 45234706 Chr17(GRCh37):g.45234706G>C 520 520 NM_001114091.3:c.520C>G p.Gln174Glu p.Gln174Glu 6 116946 45 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.4385 0 New Acceptor Site 45234705 5.52865 0.0941 74.6552 rs143453365 no no 0 G 0.000000 0 COSM4188746|COSM4188746 Large intestine|Kidney 0.000414|0.000524 2418|1909 transversion C G C>G 1.000 4.806 Q Gln CAG 0.744 E Glu GAG 0.583 174 13 8 Zebrafish 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 353.86 0.00 Tolerated 0.77 III.53 255 PASS . . . . . . . . . . . . . . . . 0.4642857 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.102 . @ . . . . . 1 0.183 . . 56.0 . . . . . . . . . . -0.1243 0.130 -0.124 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.659 . . exonic exonic exonic . . 0.775 @ . . . 0.64 0.55 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.283 0.011 . . 37 . 0.421 . . 0.384 . . . 0.430 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.035 . . 0 0 0 0 0 0 . 0.154 . . 0.127 . . . . . . 0 0.128 . . . . . 0.850 . 0.568 . HET 0.7 rs143453365 0.457 0.406 . . . . . . . . . . 16.6644 . . V.39 V.39 . 1.000000 . . . . . . 0.786 . . V.39 . . . . . . . . . . . . . . . . . . . 0.988 . 2.538 2.538000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.922 . 0.665 2.538 0.917 0.46 rs1058505 rs1058505 rs143453365 rs143453365 1 1538 10 1/0 0,255,255 +rs142987740 17 45234709 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45234709 45234709 Chr17(GRCh37):g.45234709A>G 517 517 NM_001114091.3:c.517T>C p.Leu173= p.Leu173Leu 6 116946 42 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.9862 0 rs142987740 no no 0 A 0.000000 0 COSM5453100 Large intestine 0.000827 2418 transition T C T>C 0.992 0.205 L Leu TTA 0.073 L Leu CTA 0.070 173 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . II.65 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.63 0.48 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142987740 0.457 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . II.66 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs1058499 rs1058499 rs142987740 rs142987740 1 1538 10 1/0 0,255,255 +rs139751753 17 45234713 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45234713 45234713 Chr17(GRCh37):g.45234713T>G 513 513 NM_001114091.3:c.513A>C p.Thr171= p.Thr171Thr 6 116946 38 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.4475 0 Cryptic Acceptor Weakly Activated 45234703 7.38479 0.92219 85.2751 8.193 0.971606 85.6499 rs139751753 yes no Frequency 1 T 0.000000 0 COSM5453102 Large intestine 0.000414 2418 transversion A C A>C 1.000 0.286 T Thr ACA 0.280 T Thr ACC 0.361 171 255 PASS . . . . . . . . . . . . . . . . 0.37096775 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . II.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.65 0.55 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.457 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . III.15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs1058494 rs1058494 . . 1 1538 10 1/0 0,255,255 +rs202182614 17 45234720 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234720 45234720 Chr17(GRCh37):g.45234720T>C 506 506 NM_001114091.3:c.506A>G p.Lys169Arg p.Lys169Arg 6 116946 31 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.4836 0 rs202182614 no no 0 T 0.000000 0 COSM5453104 Large intestine 0.000414 2418 transition A G A>G 1.000 2.546 K Lys AAA 0.425 R Arg AGA 0.205 169 13 7 Frog 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 0.39 III.38 255 PASS . . . . . . . . . . . . . . . . 0.3939394 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.528 . . 66.0 . . . . . . . . . . -0.3099 -0.043 -0.310 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.683 . . exonic exonic exonic . . 0.775 @ . . . 0.66 0.54 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.163 0.006 . . 37 . 0.396 . . 0.359 . . . 0.031 0.451 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.150 . . 0 0 0 0 0 0 . 0.131 . . 0.112 . . . . . . 0 0.269 . . . . . 0.600 . 0.437 . HET 0.27 rs202182614 . . . . . . . . . . . . 13.3763 . . V.39 V.39 . 0.540000 . . . . . . 0.455 . . V.39 . . . . . . . . . . . . . . . . . . . 0.547 . 2.053 2.053000 . . 0.540000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.583 . 0.757 2.053 0.991 . . . rs202182614 rs202182614 1 1538 10 1/0 0,255,255 +rs199899451 17 45234721 T A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution stop gain exon GRCh37 45234721 45234721 Chr17(GRCh37):g.45234721T>A 505 505 NM_001114091.3:c.505A>T p.Lys169* p.Lys169* 6 116946 30 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 XII.32 0 rs199899451 no no 0 T 0.000000 0 COSM5453106 Large intestine 0.000414 2418 transversion A T A>T 1.000 3.999 K Lys AAA 0.425 * * TAA 0.277 169 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.966 . @ . . . . . 0 0.730 . . 64.0 . . . . . . . . . . 0.8897 0.772 0.890 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.775 @ . . . 0.65 0.54 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.600 . . . HET 0.02 rs199899451 . . . . . . . . . . . . 13.3763 . . V.39 V.39 . 1.000000 . . . . . . 0.718 . . V.39 . . . . . . . . . . . . . . . . . . . 0.547 . 2.053 2.053000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.767 . 0.757 2.053 0.991 . . . rs199899451 rs199899451 1 1538 10 1/0 0,255,255 +rs62077268 17 45249365 C T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45249365 45249365 Chr17(GRCh37):g.45249365C>T 169 169 NM_001114091.3:c.169G>A p.Ala57Thr p.Ala57Thr 3 116946 66 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 rs62077268 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 237284 14796 31352 9676 16770 28970 108648 21836 5236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Exomes COSM4268108|COSM4268108 Liver|Large intestine 0.001687|0.000414 2371|2418 transition G A G>A 1.000 5.532 A Ala GCA 0.226 T Thr ACA 0.280 57 13 10 Baker's yeast 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Deleterious 0.03 3.I 255 PASS . . . . . . . . . . . . . . . . 0.54347825 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.839 . @ . . . . . 1 0.965 . . 46.0 . . . . . . . . . . 0.6815 0.723 0.682 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.869 . . exonic exonic exonic . . 0.883 @ . . . 0.53 0.44 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.787 0.109 . . 37 . 0.884 . . 0.888 . . . 0.738 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.522 . . 0 0 0 0 0 0 . 0.581 . . 0.545 . . . . . . 1 0.330 . . . . . 0.870 . 0.901 . HET 0.13 rs62077268 . . . . . . . . . . . . 17.2887 . . V.69 V.69 . 0.050000 . . . . . . 0.920 . . V.69 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.820 . 2.691 2.691000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.864 . 0.403 2.691 0.871 . rs1058176 rs1058176 rs62077268 rs62077268 1 1538 10 1/0 0,255,255 +rs62077269 17 45249372 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45249372 45249372 Chr17(GRCh37):g.45249372T>G 162 162 NM_001114091.3:c.162A>C p.Ala54= p.Ala54Ala 3 116946 59 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 rs62077269 yes no Frequency 1 T 0.000000 0 0.000113 0.000044 0.000032 0.000000 0.000000 0.000036 0.000169 0.000210 0.000166 0.000210 29 1 1 0 0 1 20 5 1 257502 22940 30888 9744 17696 27888 118490 23842 6014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 1 1 0 0 1 20 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4130300|COSM4130300 Thyroid|Liver 0.002677|0.001687 747|2371 transversion A C A>C 0.976 -0.198 A Ala GCA 0.226 A Ala GCC 0.403 54 255 PASS . . . . . . . . . . . . . . . . 0.5294118 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . I.98 . . . . . . . . 8.841e-04 . . . 0.0007 0.0005 0.0006 0.0004 0.0003 0.0006 0 0.0003 0.0005 0.0005 0.0005 0.0005 0.0002 0.0006 0 0.0003 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.36 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62077269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.029e-05 0.0001 3.325e-05 0 0 0.0002 0.0002 0.0002 3.586e-05 0 6.551e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1058163 rs1058163 rs62077269 rs62077269 1 1538 10 1/0 0,255,255 +rs62077270 17 45249391 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45249391 45249391 Chr17(GRCh37):g.45249391T>G 143 143 NM_001114091.3:c.143A>C p.Tyr48Ser p.Tyr48Ser 3 116946 40 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 Cryptic Acceptor Strongly Activated 45249379 4.78819 0.510253 85.8728 6.94595 0.817249 88.6834 rs62077270 no no 0 T 0.000000 0 COSM4130302|COSM4130302 Thyroid|Liver 0.002677|0.000844 747|2371 transversion A C A>C 1.000 4.483 Y Tyr TAT 0.438 S Ser TCT 0.185 48 13 9 Fruitfly -2 -2 -3 0.2 I.42 6.II 9.II 136 32 144 C0 353.86 0.00 Deleterious 0.02 3.I 255 PASS . . . . . . . . . . . . . . . . 0.4716981 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.921 . @ . . . . . 1 0.518 . . 53.0 . . . . . . . . . . 0.7830 0.772 0.783 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.754 . . exonic exonic exonic . . 0.883 @ . . . 0.48 0.39 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.821 0.138 . . 37 . 0.836 . . 0.848 . . . 0.655 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.764 . . 0.682 . . . . . . 1 0.912 . . . . . 0.630 . 0.964 . HET 0 rs62077270 . . . . . . . . . . . . 13.8831 . . V.69 V.69 . 0.060000 . . . . . . 0.931 . . V.69 . . . . . . . . . . . . . . . . . . . 0.820 . 2.173 2.173000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.886 . 0.635 2.173 0.991 . rs62077270 rs62077270 rs62077270 rs62077270 1 1538 10 1/0 0,255,255 +rs62077271 17 45249399 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45249399 45249399 Chr17(GRCh37):g.45249399T>C 135 135 NM_001114091.3:c.135A>G p.Ala45= p.Ala45Ala 3 116946 32 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 rs62077271 yes no Frequency 1 T 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000039 0.000010 0.000000 0.000000 0.000039 2 0 0 0 0 1 1 0 0 218020 13572 27480 9256 15476 25678 100458 21270 4830 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Exomes COSM4130304|COSM4130304 Thyroid|Liver 0.001339|0.000844 747|2371 transition A G A>G 0.992 0.044 A Ala GCA 0.226 A Ala GCG 0.107 45 255 PASS . . . . . . . . . . . . . . . . 0.4716981 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . I.88 . . . . . . . . 1.579e-05 . . . 0 1.548e-05 0 0 0 0 0 7.769e-05 0 1.446e-05 0 0 0 0 0 7.814e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.35 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62077271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VI 0 9.173e-06 0 0 0 0 9.954e-06 0 3.894e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62077271 rs62077271 rs62077271 rs62077271 1 1538 10 1/0 0,255,255 +rs62077272 17 45249408 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45249408 45249408 Chr17(GRCh37):g.45249408A>G 126 126 NM_001114091.3:c.126T>C p.Phe42= p.Phe42Phe 3 116946 23 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 rs62077272 no no 0 A 0.000000 0 COSM4130306|COSM4130306 Thyroid|Liver 0.002677|0.001265 747|2371 transition T C T>C 1.000 2.950 F Phe TTT 0.454 F Phe TTC 0.546 42 255 PASS . . . . . . . . . . . . . . . . 0.4528302 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . I.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.37 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62077272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62077272 rs62077272 rs62077272 rs62077272 1 1538 10 1/0 0,255,255 +. 17 45266510 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution splice site GRCh37 45266510 45266510 Chr17(GRCh37):g.45266510A>G 27+2 27+2 NM_001114091.3:c.27+2T>C p.? p.? 1 1 116946 2 5' 82.5885 9.42864 0.955616 8.59626 79.4535 0 0 0 -0.67932 transition T C T>C 1.000 3.514 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.732 . @ . . . . . 0 0.544 . . 92.0 . . . . . . . . . . 1.0441 0.876 1.044 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing splicing splicing . . 0.630 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . 0.550 . . . LowAF . . . . . . . . . . . . . . XII.94 . . IV.88 IV.88 . . . 0.9927 0.592 . . . 0.703 . . IV.88 . . . . . . . . . . . . . . . . . . . 0.024 . 2.052 2.052000 . . . . . 1.0E-188 1.000 0.715 . 0.653 0.986 . 0.733 . 0.879 2.052 1.062 . . . . . 1 1538 10 1/0 0,232,255 +rs62077279 17 45266522 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45266522 45266522 Chr17(GRCh37):g.45266522T>C 17 17 NM_001114091.3:c.17A>G p.Glu6Gly p.Glu6Gly 1 116946 -11 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.37129 0 rs62077279 no no 0 T 0.000000 0 COSM4130312|COSM4130312|COSM4130312 Upper aerodigestive tract|Thyroid|Bone 0.000804|0.002677|0.001757 1244|747|569 transition A G A>G 1.000 3.434 E Glu GAA 0.417 G Gly GGA 0.246 6 13 9 Fruitfly -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Deleterious 0.03 III.38 255 PASS . . . . . . . . . . . . . . . . 0.7966507 . . @ 333 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.740 . @ . . . . . 1 0.970 . . 418.0 . . . . . . . . . . 0.3855 0.409 0.386 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.725 . . exonic exonic exonic . . 0.589 @ . . . 0.62 0.44 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.254 . . . . D 0.882 0.229 . . 37 . 0.696 . . 0.673 . . . 0.469 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.669 . . 0 0 0 0 0 0 . 0.899 . . 0.719 . . . . . . 0 0.682 . . . . . 0.533 . 0.696 . HOM 0.01 rs62077279 . . . . . . . . . . . . 12.1792 . . IV.71 IV.71 . 0.310000 . . . . . . 0.539 . . IV.71 . . . . . . . . . . . . . . . . . . . 0.547 . 1.987 1.987000 . . 0.310000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.571 . 0.600 1.987 0.991 . rs62077279 rs62077279 rs62077279 rs62077279 1 1538 10 1/0 0,192,186 +rs62077280 17 45266535 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45266535 45266535 Chr17(GRCh37):g.45266535T>C 4 4 NM_001114091.3:c.4A>G p.Thr2Ala p.Thr2Ala 1 116946 -24 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 VIII.79 0 rs62077280 no no 0 T 0.000000 0 COSM4130314|COSM4130314|COSM4130314 Thyroid|Liver|Bone 0.002677|0.000844|0.001757 747|2371|569 transition A G A>G 1.000 2.062 T Thr ACG 0.116 A Ala GCG 0.107 2 13 9 Baker's yeast 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.4 3.I 255 PASS . . . . . . . . . . . . . . . . 0.846293 . . @ 468 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.688 . @ . . . . . 1 0.665 . . 553.0 . . . . . . . . . . 0.0394 0.076 0.039 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.704 . . exonic exonic exonic . . 0.416 @ . . . 0.62 0.4 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.406 . . . . D 0.798 0.118 . . 37 . 0.644 . . 0.595 . . . 0.263 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.088 . . 0 0 0 0 0 0 . 0.615 . . 0.708 . . . . . . 0 0.477 . . . . . 0.333 . 0.400 . HOM 0 rs62077280 . . . . . . . . . . . . VIII.87 . . IV.78 III.71 . 0.400000 . . . . . . 0.552 . . III.71 . . . . . . . . . . . . . . . . . . . 0.547 . 0.861 0.861000 . . 0.400000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.576 . 0.600 0.861 0.991 . rs62077280 rs62077280 rs62077280 rs62077280 1 1538 10 1/0 0,178,173 +rs62077281 17 45266571 T A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266571 45266571 Chr17(GRCh37):g.45266571T>A -33 -33 NM_001114091.3:c.-33A>T p.? p.? 1 116946 -60 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.443 0 Cryptic Acceptor Strongly Activated 45266560 0.001193 4.00707 0.021424 77.1701 rs62077281 no no 0 T 0.000000 0 transversion A T A>T 1.000 1.577 255 PASS . . . . . . . . . . . . . . . . 0.6688 . . @ 418 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 625.0 . . . . . . . . . . III.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.6 0.44 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62077281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62077281 rs62077281 rs62077281 rs62077281 1 1538 10 1/0 0,182,180 +. 17 45266575 G GCACCC - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 insertion 5'UTR GRCh37 45266575 45266576 Chr17(GRCh37):g.45266575_45266576insCACCC -38 -37 NM_001114091.3:c.-38_-37insGGGTG p.? p.? 1 116946 -64 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 7.84056 0 rs780673219 yes no Frequency 1 0.000000 0 GGGTG 255 Pass . . . . . . . . . . . . . . . . 0.8166227 . . . 619 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,9 +rs79580708 17 45266583 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266583 45266583 Chr17(GRCh37):g.45266583T>C -45 -45 NM_001114091.3:c.-45A>G p.? p.? 1 116946 -72 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.79917 0 rs79580708 yes no Frequency 1 T 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000000 0.000046 0.000000 0.000000 0.000046 5 0 0 0 0 0 5 0 0 242676 14714 33478 9742 17132 30708 109554 21954 5394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes transition A G A>G 1.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.9070465 . . @ 605 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 667.0 . . . . . . . . . . II.79 . . . . . . . . 2.369e-05 . . . 0 3.464e-05 0 0 0 7.568e-05 0 0 0 9.714e-06 0 0 0 1.899e-05 0 0 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.6 0.4 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79580708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.06e-05 0 0 0 0 4.564e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79580708 rs79580708 1 1538 10 1/0 0,178,175 +rs74720779 17 45266584 G A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266584 45266584 Chr17(GRCh37):g.45266584G>A -46 -46 NM_001114091.3:c.-46C>T p.? p.? 1 116946 -73 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.39938 0 rs74720779 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 242486 14686 33476 9732 17132 30714 109434 21920 5392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes transition C T C>T 1.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.84237725 . . @ 326 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 387.0 . . . . . . . . . . 3.1232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.59 0.44 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74720779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.79 0 8.248e-06 0 0 0 0 1.828e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74720779 rs74720779 1 1538 10 1/0 0,210,206 +rs73319515 17 45266610 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266610 45266610 Chr17(GRCh37):g.45266610T>G -72 -72 NM_001114091.3:c.-72A>C p.? p.? 1 116946 -99 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 rs73319515 no no 0 G 0.000000 0 transversion A C A>C 1.000 1.335 255 PASS . . . . . . . . . . . . . . . . 0.9452381 . . @ 794 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 840.0 . . . . . . . . . . 3.0572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.63 0.48 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs73319515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73319515 rs73319515 rs73319515 1 1538 10 1/0 0,174,171 +rs78501339 17 45266622 C G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266622 45266622 Chr17(GRCh37):g.45266622C>G -84 -84 NM_001114091.3:c.-84G>C p.? p.? 1 116946 -111 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 rs78501339 no no 0 C 0.000000 0 transversion G C G>C 1.000 2.304 255 PASS . . . . . . . . . . . . . . . . 0.9348659 . . @ 732 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 783.0 . . . . . . . . . . 3.1189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.61 0.5 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs78501339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78501339 rs78501339 1 1538 10 1/0 0,181,179 +rs143786623 17 45266623 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266623 45266623 Chr17(GRCh37):g.45266623T>G -85 -85 NM_001114091.3:c.-85A>C p.? p.? 1 116946 -112 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 rs143786623 no no 0 T 0.000000 0 transversion A C A>C 1.000 3.111 255 PASS . . . . . . . . . . . . . . . . 0.94095474 . . @ 749 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 796.0 . . . . . . . . . . III.00 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.63 0.51 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs143786623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs143786623 rs143786623 1 1538 10 1/0 0,178,176 +rs796155589 17 45266631 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266631 45266631 Chr17(GRCh37):g.45266631G>C -93 -93 NM_001114091.3:c.-93C>G p.? p.? 1 116946 -120 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 Cryptic Donor Strongly Activated 45266634 0.001725 58.12 0.625673 0.0175 63.6401 rs796155589 no no 0 G 0.000000 0 transversion C G C>G 1.000 1.900 255 PASS . . . . . . . . . . . . . . . . 0.94050634 . . @ 743 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 790.0 . . . . . . . . . . 3.0924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 ENST00000066544:c.-93C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VIII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72823442 . . 1 1538 10 1/0 0,179,177 +rs796409283 17 45266632 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266632 45266632 Chr17(GRCh37):g.45266632A>G -94 -94 NM_001114091.3:c.-94T>C p.? p.? 1 116946 -121 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 rs796409283 no no 0 A 0.000000 0 transition T C T>C 1.000 3.111 255 PASS . . . . . . . . . . . . . . . . 0.9353562 . . @ 709 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 758.0 . . . . . . . . . . III.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 ENST00000066544:c.-94T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72823444 . . 1 1538 10 1/0 0,186,184 +. 17 45669428 T TAAA - NPEPPS 7900 Aminopeptidase puromycin sensitive NM_006310.3 1 4339 2760 NP_006301.3 P55786 duplication intron GRCh37 45669437 45669438 Chr17(GRCh37):g.45669435_45669437dup 1365+9 1365+11 NM_006310.3:c.1365+9_1365+11dup p.? p.? 11 11 606793 11 5' 82.2129 8.37568 0.961338 2.15979 82.2129 8.37568 0.961338 1.60924 0 0.000681 0.004660 0.000374 0.000000 0.000315 0.000042 0.000357 0.000251 0.000182 0.004660 160 98 10 0 5 1 39 6 1 235048 21030 26710 8738 15876 24030 109238 23920 5506 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM980461|COSM980461|COSM980461 Skin|Haematopoietic and lymphoid tissue|Endometrium 0.000812|0.000283|0.001524 1232|3530|656 AAA 255 Pass . . . . . . . . . . . . . . . . 0.39655173 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . INTRON(MODIFIER||||NPEPPS|mRNA|CODING|NM_006310|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing splicing splicing . . . . . . . . . . ENSG00000141279 NPEPPS NPEPPS . . NM_006310:exon11:c.1365+2->AAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs59875832 . . . . . . ID\x3dCOSM980461\x3bOCCURENCE\x3d1(endometrium) . . . . . . . . . . . . . . . . . . . . . . 0 4.808e-06 0 0 0 0 0 0 4.161e-05 0.0131 0.0059 0.0141 0 0.0038 0.0019 0.0029 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs59875832 rs59875832 1 1538 10 1.I 0,12,40 +rs111230318 17 45669444 A G - NPEPPS 7900 Aminopeptidase puromycin sensitive NM_006310.3 1 4339 2760 NP_006301.3 P55786 substitution intron GRCh37 45669444 45669444 Chr17(GRCh37):g.45669444A>G 1365+18 1365+18 NM_006310.3:c.1365+18A>G p.? p.? 11 11 606793 18 5' 82.2129 8.37568 0.961338 2.15979 82.2129 8.37568 0.961338 2.26773 0 rs111230318 yes no Frequency 1 A 0.000000 0 0.000267 0.001146 0.000804 0.000111 0.000253 0.000041 0.000101 0.000083 0.000000 0.001146 62 22 21 1 4 1 11 2 0 232328 19202 26104 9036 15782 24346 108416 23972 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 22 21 1 4 1 11 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 0.367 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||NPEPPS|mRNA|CODING|NM_006310|) . . . . . . . 0.3335 . . . . . . . . 9.303e-04 . . . 0.0013 0.0012 0.0072 0.0007 0.0011 0.0003 0 0.0007 0.0012 0.0010 0.0073 0.0008 0.0006 0.0003 0 0.0007 . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.14 182 ENSG00000141279 NPEPPS NPEPPS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111230318 0.283 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . 2.IV 7.99e-05 0.0001 0.0007 0.0001 0.0001 0 3.154e-05 0 4.107e-05 0.0031 0.0013 0.0028 0 0.0016 0.0006 0.0006 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . 0.28 . . rs111230318 rs111230318 1 1538 10 1.I 0,0,0 +. 17 46627641 GCT G - HOXB-AS1 43744 HOXB cluster antisense RNA 1 XR_243624.1 1 1455 0 deletion intron GRCh37 46627643 46627644 Chr17(GRCh37):g.46627643_46627644del 1310-59 1310-58 XR_243624.1:n.1310-59_1310-58del p.? p.? 4 3 -58 3' 88.3494 X.24 0.983965 X.68 88.3494 X.24 0.983965 X.94 0 rs776869808 yes no Frequency 1 0.000000 0 0.000905 0.000574 0.000000 0.000000 0.000000 0.000000 0.001468 0.000287 0.000000 0.001468 28 5 0 0 0 0 22 1 0 30926 8714 838 302 1620 0 14984 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 5 0 0 0 0 22 1 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes TC 255 Pass . . . . . . . . . . . . . . . . 0.44186047 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . HOXB-AS1 HOXB-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776869808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0009 0 0 0 0.0003 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +. 17 46627641 GCT G - HOXB3 5114 Homeobox B3 NM_002146.4 -1 3618 1296 NP_002137.4 P14651 deletion 3'UTR GRCh37 46627642 46627643 Chr17(GRCh37):g.46627642_46627643del *53 *54 NM_002146.4:c.*53_*54del p.? p.? 4 142966 901 3' 72.4509 5.65735 0.020281 7.52791 72.4509 5.65735 0.020281 7.52791 0 rs776869808 yes no Frequency 1 0.000000 0 0.000905 0.000574 0.000000 0.000000 0.000000 0.000000 0.001468 0.000287 0.000000 0.001468 28 5 0 0 0 0 22 1 0 30926 8714 838 302 1620 0 14984 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 5 0 0 0 0 22 1 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes AG 255 Pass . . . . . . . . . . . . . . . . 0.44186047 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . HOXB-AS1 HOXB-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776869808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0009 0 0 0 0.0003 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +rs746864099 17 46627645 C A - HOXB-AS1 43744 HOXB cluster antisense RNA 1 XR_243624.1 1 1455 0 substitution intron GRCh37 46627645 46627645 Chr17(GRCh37):g.46627645C>A 1310-57 1310-57 XR_243624.1:n.1310-57C>A p.? p.? 4 3 -57 3' 88.3494 X.24 0.983965 X.68 88.3494 X.24 0.983965 X.72 0 46627648 -20.2941 rs746864099 yes no Frequency 1 C 0.000000 0 0.001155 0.000503 0.000758 0.000000 0.000000 0.000000 0.002151 0.000081 0.001094 0.002151 316 12 26 0 0 0 269 2 7 273538 23866 34296 10040 18820 30510 125040 24570 6396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 316 12 26 0 0 0 269 2 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.087 0.932 255 PASS . . . . . . . . . . . . . . . . 0.425 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.6959 . . . . . . . . 1.011e-03 . . . 0.0002 0.0010 0.0006 0 0 0.0019 0 0 0.0002 0.0009 0.0006 0 0 0.0016 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . HOXB-AS1 HOXB-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs746864099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.58 0.0005 0.0012 0.0008 0 0 4.744e-05 0.0022 0.0013 0 0.0006 0.0009 0 0 0 0.0003 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs746864099 17 46627645 C A - HOXB3 5114 Homeobox B3 NM_002146.4 -1 3618 1296 NP_002137.4 P14651 substitution 3'UTR GRCh37 46627645 46627645 Chr17(GRCh37):g.46627645C>A *51 *51 NM_002146.4:c.*51G>T p.? p.? 4 142966 899 3' 72.4509 5.65735 0.020281 7.52791 72.4509 5.65735 0.020281 7.52791 0 rs746864099 yes no Frequency 1 C 0.000000 0 0.001155 0.000503 0.000758 0.000000 0.000000 0.000000 0.002151 0.000081 0.001094 0.002151 316 12 26 0 0 0 269 2 7 273538 23866 34296 10040 18820 30510 125040 24570 6396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 316 12 26 0 0 0 269 2 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.087 0.932 255 PASS . . . . . . . . . . . . . . . . 0.425 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.6959 . . . . . . . . 1.011e-03 . . . 0.0002 0.0010 0.0006 0 0 0.0019 0 0 0.0002 0.0009 0.0006 0 0 0.0016 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . HOXB-AS1 HOXB-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs746864099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.58 0.0005 0.0012 0.0008 0 0 4.744e-05 0.0022 0.0013 0 0.0006 0.0009 0 0 0 0.0003 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs36010904 17 47677953 A G - SPOP 11254 Speckle-type POZ protein NM_003563.3 -1 3038 1125 NP_003554.1 O43791 substitution intron GRCh37 47677953 47677953 Chr17(GRCh37):g.47677953A>G 981-69 981-69 NM_003563.3:c.981-69T>C p.? p.? 11 10 602650 -69 3' 74.4599 6.73425 0.771868 6.96033 74.4599 6.73425 0.771868 6.97368 0 rs36010904 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.008000 0.007200 0.004003 0.000917 0.007160 0.026490 0.000000 0.000000 0.006461 0.000000 0.005092 0.026490 124 8 6 8 0 0 97 0 5 30976 8728 838 302 1620 0 15012 3494 982 0.008065 0.000000 0.000000 0.000000 0.000000 0.000000 0.010309 0.000000 0.000000 1 0 0 0 0 0 1 0 0 122 8 6 8 0 0 95 0 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.000 -0.924 255 PASS . 0.0037 0.01 . 0.01 . 0.0026 0.0072 . 0.008 . . . . . . 0.4857143 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.0429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.52 0.17 182 ENSG00000121067 SPOP SPOP . . . . . . 581 0.00894176 64976 568 0.00946888 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs36010904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0040 0.0072 0.0265 0 0 0.0065 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs36010904 rs36010904 rs36010904 rs36010904 1 1538 10 1/0 0,255,255 +rs147270335 17 47782618 C T - SLC35B1 20798 Solute carrier family 35, member B1 NM_005827.2 -1 1611 1080 NP_005818.2 substitution synonymous exon GRCh37 47782618 47782618 Chr17(GRCh37):g.47782618C>T 507 507 NM_005827.2:c.507G>A p.Leu169= p.Leu169Leu 5 610790 26 3' 85.4758 9.48033 0.992293 11.028 85.4758 9.48033 0.992293 X.91 0 UAA transporter Drug/metabolite transporter rs147270335 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.002000 0.000000 0.003000 0.001400 0.002965 0.000374 0.000610 0.000000 0.000000 0.004158 0.003813 0.005854 0.004640 0.005854 822 9 21 0 0 128 483 151 30 277202 24040 34416 10152 18870 30782 126682 25794 6466 0.000014 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 818 9 21 0 0 124 483 151 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4403 12969 34 3 37 0.00395349 0.00068089 0.00284484 0.00395349 0.00068089 0.00284484 73 transition G A G>A 1.000 3.434 L Leu TTG 0.127 L Leu TTA 0.073 169 255 PASS 0.002 0.0018 0.0028 . 0.0026 0.0008 0.0014 0.0014 . 0.003 0.002 . . . . . 0.51111114 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . 0.0007 0.0028 0.004 0.0007 0.0028 0.004 . I.04 . . . . . . . . 3.283e-03 . . . 0.0004 0.0029 0.0004 0 0.0053 0.0038 0.0042 0.0044 0.0003 0.0032 0.0004 0 0.0052 0.0042 0.0058 0.0043 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.63 0.34 182 ENSG00000121073 SLC35B1 SLC35B1 . . . . . . 219 0.00337048 64976 212 0.00353416 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147270335 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv525469 0.002845 . . . . V.84 0.0005 0.0030 0.0006 0 0 0.0056 0.0039 0.0044 0.0042 0.0002 0.0027 0 0 0 0.0074 0.0033 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs147270335 rs147270335 1 1538 10 1/0 0,255,255 +rs141893882 17 48158680 A G - ITGA3 6139 Integrin subunit alpha 3 NM_002204.3 1 5035 3156 NP_002195.1 P26006 substitution missense exon GRCh37 48158680 48158680 Chr17(GRCh37):g.48158680A>G 2827 2827 NM_002204.3:c.2827A>G p.Arg943Gly p.Arg943Gly 23 605025 7 3' 79.81 7.92137 0.595063 9.72701 79.81 7.92137 0.681008 9.60891 0.0481434 rs141893882 yes no Frequency/1000G 2 A 0.000000 0 0.001997 0.000000 0.004100 0.000000 0.006000 0.000000 0.007036 0.001398 0.002497 0.004039 0.000000 0.005595 0.011253 0.007421 0.006057 0.011253 1652 29 76 38 0 147 1162 165 35 234786 20744 30438 9408 16654 26272 103258 22234 5778 0.000119 0.000000 0.000000 0.000000 0.000000 0.000381 0.000136 0.000090 0.000346 14 0 0 0 0 5 7 1 1 1624 29 76 38 0 137 1148 163 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8510 4396 12906 90 8 98 0.0104651 0.00181653 0.00753614 0.0104651 0.00181653 0.00753614 61 transition A G A>G 0.906 0.609 R Arg AGA 0.205 G Gly GGA 0.246 943 12 6 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 247.14 0.00 Tolerated 0.18 II.82 255 PASS . 0.0023 . . 0.01 . 0.002 . . 0.006 0.0041 . . ITGA3:NM_002204:exon23:c.A2827G:p.R943G . . 0.55172414 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.433 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R943G|ITGA3|mRNA|CODING|NM_002204|NM_002204.ex.23) 0.0018 0.0075 0.011 0.0018 0.0075 0.011 . -0.1747 -0.073 -0.175 c . . . . . 5.921e-03 . . . 0.0015 0.0112 0.0051 0 0.0269 0.0175 0.0033 0.0079 0.0019 0.0140 0.0043 0 0.0260 0.0250 0.0052 0.0080 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.596 . . exonic exonic exonic . . 0.753 0.0020 . . . 0.32 0.32 182 ENSG00000005884 ITGA3 ITGA3 . . . 1.000 0.454 . 564 0.00868013 64976 554 0.00923549 59986 Uncertain_significance . 0 . 0.153 . . . . . . . . . 37 . 0.422 . . 0.402 . . . 0.404 0.230 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.146 . . 0 0 0 0 0 0 . 0.326 . . 0.266 . . . . . . 0 0.267 . . . . . 0.473 . 0.150 . HET 0.17 rs141893882 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 11.1135 0.002409 . V.32 V.32 . 0.410000 . . . . 0.007536 . 0.295 . . V.32 0.0010 0.0070 0.0025 0.0042 0 0.0078 0.0112 0.0050 0.0056 0.0019 0.0072 0.0024 0 0 0.0054 0.0117 0.0112 . . 0.609 . 2.150 2.150000 . . 0.410000 . . 1.0E-255 0.396 0.259 . 0.507 0.996 . 0.245 . 0.267 2.150 1.062 0.011 . . rs141893882 rs141893882 1 1538 10 1/0 0,255,255 +rs77651559 17 48614385 G A - EPN3 18235 Epsin 3 NM_017957.2 1 3927 1899 NP_060427.2 Q9H201 substitution synonymous exon GRCh37 48614385 48614385 Chr17(GRCh37):g.48614385G>A 468 468 NM_017957.2:c.468G>A p.Leu156= p.Leu156Leu 2 607264 -95 5' 73.8017 7.93713 0.831186 10.1695 73.8017 7.93713 0.831186 10.1695 0 rs77651559 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.011900 0.000000 0.004679 0.000760 0.002214 0.003171 0.000000 0.000455 0.007461 0.007032 0.005135 0.007461 1284 18 76 32 0 14 932 179 33 274428 23692 34326 10090 18782 30740 124916 25456 6426 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000157 0.000000 5 0 0 0 0 0 3 2 0 1274 18 76 32 0 14 926 175 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4400 12931 69 6 75 0.00802326 0.00136178 0.00576657 0.00802326 0.00136178 0.00576657 29 COSM6030802 Large intestine 0.000448 2231 transition G A G>A 0.992 1.658 L Leu CTG 0.404 L Leu CTA 0.070 156 255 PASS . 0.01 . . 0.01 . 0.0024 . . 0.012 . . . EPN3:NM_017957:exon2:c.G468A:p.L156L . . 0.49438202 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L156|EPN3|mRNA|CODING|NM_017957|NM_017957.ex.2) 0.0014 0.0058 0.008 0.0014 0.0058 0.008 . I.81 . . . . . . . . 4.405e-03 . . . 0.0005 0.0041 0.0016 0 0.0072 0.0074 0.0062 0.0006 0.0005 0.0042 0.0016 0 0.0077 0.0067 0.0062 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.31 0.5 182 ENSG00000049283 EPN3 EPN3 . . . . . . 342 0.00526348 64976 330 0.00550128 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77651559 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.005767 . . . . III.36 0.0005 0.0046 0.0022 0.0032 0 0.0074 0.0075 0.0042 0.0005 0.0011 0.0049 0.0048 0.0033 0 0.0046 0.0075 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs77651559 rs77651559 1 1538 10 1/0 0,255,255 +rs554146522 17 55038098 G A - COIL 2184 Coilin NM_004645.2 -1 2634 1731 NP_004636.1 P38432 substitution intron GRCh37 55038098 55038098 Chr17(GRCh37):g.55038098G>A 245+38 245+38 NM_004645.2:c.245+38C>T p.? p.? 1 1 600272 38 5' 79.0738 9.09964 0.819681 10.1189 79.0738 9.09964 0.819681 9.86319 0 Cryptic Donor Strongly Activated 55038100 56.4141 4.69887 0.015431 67.8095 rs554146522 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.003000 0.000000 0.000000 0.000233 0.000000 0.000000 0.000000 0.002607 0.000000 0.000044 0.000000 0.000345 0.002607 25 0 0 0 22 0 2 0 1 107336 12622 13154 3764 8440 12820 45664 7976 2896 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 0 0 22 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.047 -0.279 255 PASS . . . . . . 0.0006 . 0.003 . . . . . . . 0.5 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . INTRON(MODIFIER||||COIL|mRNA|CODING|NM_004645|) . . . . . . . 0.0836 . . . . . . . . 4.232e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . UTR5 intronic intronic . . . 0.0006 . . . . . . ENSG00000121058 COIL COIL ENST00000573008:c.-9287C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs554146522 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv32884 . . . . . . 0 0.0003 0 0 0.0028 0 6.439e-05 0 0 0 0.0001 0 0 0.0019 0 0 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs116924898 17 55752389 G A - MSI2 18585 Musashi RNA binding protein 2 NM_138962.3 1 6332 987 NP_620412.1 Q96DH6 substitution missense exon GRCh37 55752389 55752389 Chr17(GRCh37):g.55752389G>A 847 847 NM_138962.3:c.847G>A p.Ala283Thr p.Ala283Thr 12 607897 57 3' 83.7768 IX.13 0.854573 6.21513 83.7768 IX.13 0.854573 5.92398 0 rs116924898 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000800 0.001000 0.000000 0.009900 0.004300 0.008794 0.002174 0.003312 0.000791 0.000000 0.003217 0.014369 0.011249 0.008995 0.014369 2427 52 114 8 0 99 1806 290 58 275992 23918 34416 10120 18844 30778 125688 25780 6448 0.000188 0.000000 0.000000 0.000000 0.000000 0.000065 0.000366 0.000155 0.000000 26 0 0 0 0 1 23 2 0 2375 52 114 8 0 97 1760 286 58 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8500 4399 12899 94 7 101 0.0109379 0.00158874 0.00776923 0.0109379 0.00158874 0.00776923 55 transition G A G>A 1.000 5.129 A Ala GCC 0.403 T Thr ACC 0.361 283 12 9 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.1 III.82 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.003 0.0043 . 0.0099 0.001 . . MSI2:NM_138962:exon12:c.G847A:p.A283T . . 0.505618 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.707 . @ . . . . . 1 0.966 . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A283T|MSI2|mRNA|CODING|NM_138962|NM_138962.ex.12) 0.0016 0.0078 0.011 0.0016 0.0078 0.011 . 0.6277 0.606 0.628 c . . . . . 9.765e-03 . . . 0.0027 0.0065 0.0050 0 0.0113 0.0096 0.0071 0.0031 0.0025 0.0099 0.0048 0 0.0129 0.0154 0.0044 0.0031 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.856 . . exonic exonic exonic . . 0.538 0.0030 . . . 0.27 0.24 182 ENSG00000153944 MSI2 MSI2 . . . 1.000 0.747 . 720 0.011081 64976 705 0.0117527 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.861 . . 0.848 . . . 0.440 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.358 . . 0 0 0 0 0 0 . 0.899 . . 0.715 . . . . . . 0 0.555 . . . . . 0.866 . 0.620 . HET 0.02 rs116924898 0.011 0.007 . . . . . 0.005494505494505495 0.0020325203252032522 0.0055248618784530384 0.0 0.011873350923482849 17.1487 0.001605 . IV.48 IV.48 . 0.530000 . . . . 0.007769 . 0.986 . . IV.48 0.0023 0.0088 0.0032 0.0007 0 0.0113 0.0146 0.0093 0.0032 0.0019 0.0084 0.0060 0.0033 0 0.0106 0.0128 0.0071 . . 0.830 . 2.038 2.038000 . . 0.530000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.973 . 0.416 2.038 0.917 0.011 . . rs116924898 rs116924898 1 1538 10 1/0 0,255,255 +rs149078703 17 56429483 G T - RNF43 18505 Ring finger protein 43 NM_001305544.1 -1 5543 2352 NP_001292473.1 Q68DV7 substitution downstream GRCh37 56429483 56429483 Chr17(GRCh37):g.56429483G>T *2821 *2821 NM_001305544.1:c.*2821C>A p.? p.? 10 612482 2865 3' 84.9229 7.81793 0.800707 XI.42 84.9229 7.81793 0.800707 XI.42 0 Cryptic Donor Strongly Activated 56429482 3.27269 0.015553 57.9167 5.74298 0.084861 66.8309 rs149078703 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002072 0.000584 0.000756 0.001182 0.000000 0.001105 0.003435 0.001554 0.002013 0.003435 574 14 26 12 0 34 435 40 13 277032 23992 34402 10148 18870 30780 126634 25748 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 574 14 26 12 0 34 435 40 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4403 12978 25 3 28 0.00290698 0.00068089 0.00215285 0.00290698 0.00068089 0.00215285 46 transversion C A C>A 1.000 4.160 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . SUPT4H1:uc002iwe.2:exon1:c.C14A:p.T5K SUPT4H1:NM_003168:exon1:c.C14A:p.T5K . . 0.465 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.528 . . 200.0 . . . 0.0007 0.0022 0.0029 0.0007 0.0022 0.0029 . 0.5766 0.543 0.577 c . . . . . 1.871e-03 . . . 0.0008 0.0016 0.0006 0 0.0016 0.0026 0 0.0010 0.0007 0.0019 0.0006 0 0.0012 0.0030 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.672 0.0002 . . . 0.53 0.55 182 ENSG00000213246 SUPT4H1 SUPT4H1 . . . 1.0 0.983 . 151 0.00232394 64976 150 0.00250058 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.580 0.038 . . 37 . 0.657 . . 0.662 . . . 0.583 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.764 . . 0.551 . . . . . . 3 0.564 . . . . . 0.629 . 0.814 . HET 0.02 rs149078703 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 13.856 8.03E-4 ENST00000225504 5.IV 5.IV . 0.170000 P63272 . . . 0.002153 . 0.614 . . 5.IV 0.0007 0.0020 0.0007 0.0012 0 0.0015 0.0034 0.0020 0.0011 0.0003 0.0024 0.0012 0 0 0.0017 0.0041 0.0020 . . 0.072 . 2.330 2.330000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.444 0.950 . 0.800 . 0.713 2.330 0.917 0.0029 . . rs149078703 rs149078703 1 1538 10 1/0 0,230,255 +rs149078703 17 56429483 G T - SUPT4H1 11467 SPT4 homolog, DSIF elongation factor subunit NM_003168.2 -1 1528 354 NP_003159.1 P63272 substitution missense exon GRCh37 56429483 56429483 Chr17(GRCh37):g.56429483G>T 14 14 NM_003168.2:c.14C>A p.Thr5Lys p.Thr5Lys 1 603555 -56 5' 67.1324 0.866497 0.02901 5.09302 67.1324 0.866497 0.02901 4.79404 0 Cryptic Donor Strongly Activated 56429482 3.27269 0.015553 57.9167 5.74298 0.084861 66.8309 Transcription initiation Spt4 rs149078703 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002072 0.000584 0.000756 0.001182 0.000000 0.001105 0.003435 0.001554 0.002013 0.003435 574 14 26 12 0 34 435 40 13 277032 23992 34402 10148 18870 30780 126634 25748 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 574 14 26 12 0 34 435 40 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4403 12978 25 3 28 0.00290698 0.00068089 0.00215285 0.00290698 0.00068089 0.00215285 46 transversion C A C>A 1.000 4.160 T Thr ACG 0.116 K Lys AAG 0.575 5 12 8 Tetraodon -1 -1 -1 0.71 0.33 8.VI 11.III 61 119 78 C0 353.86 0.00 Tolerated 0.05 III.59 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . SUPT4H1:uc002iwe.2:exon1:c.C14A:p.T5K SUPT4H1:NM_003168:exon1:c.C14A:p.T5K . . 0.465 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.528 . . 200.0 . . . 0.0007 0.0022 0.0029 0.0007 0.0022 0.0029 . 0.5766 0.543 0.577 c . . . . . 1.871e-03 . . . 0.0008 0.0016 0.0006 0 0.0016 0.0026 0 0.0010 0.0007 0.0019 0.0006 0 0.0012 0.0030 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.672 0.0002 . . . 0.53 0.55 182 ENSG00000213246 SUPT4H1 SUPT4H1 . . . 1.0 0.983 . 151 0.00232394 64976 150 0.00250058 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.580 0.038 . . 37 . 0.657 . . 0.662 . . . 0.583 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.764 . . 0.551 . . . . . . 3 0.564 . . . . . 0.629 . 0.814 . HET 0.02 rs149078703 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 13.856 8.03E-4 ENST00000225504 5.IV 5.IV . 0.170000 P63272 . . . 0.002153 . 0.614 . . 5.IV 0.0007 0.0020 0.0007 0.0012 0 0.0015 0.0034 0.0020 0.0011 0.0003 0.0024 0.0012 0 0 0.0017 0.0041 0.0020 . . 0.072 . 2.330 2.330000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.444 0.950 . 0.800 . 0.713 2.330 0.917 0.0029 . . rs149078703 rs149078703 1 1538 10 1/0 0,230,255 +rs149078703 17 56429483 G T - TSPOAP1-AS1 44148 TSPOAP1 antisense RNA 1 NR_038410.1 1 2483 0 substitution exon GRCh37 56429483 56429483 Chr17(GRCh37):g.56429483G>T 878 878 NR_038410.1:n.878G>T 5 124 3' 81.6061 10.0974 0.83144 X.53 81.6061 10.0974 0.83144 X.53 0 Cryptic Acceptor Strongly Activated 56429491 7.35402 0.73981 76.4242 7.74365 0.902559 81.4296 rs149078703 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002072 0.000584 0.000756 0.001182 0.000000 0.001105 0.003435 0.001554 0.002013 0.003435 574 14 26 12 0 34 435 40 13 277032 23992 34402 10148 18870 30780 126634 25748 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 574 14 26 12 0 34 435 40 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4403 12978 25 3 28 0.00290698 0.00068089 0.00215285 0.00290698 0.00068089 0.00215285 46 transversion G T G>T 1.000 4.160 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . SUPT4H1:uc002iwe.2:exon1:c.C14A:p.T5K SUPT4H1:NM_003168:exon1:c.C14A:p.T5K . . 0.465 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.528 . . 200.0 . . . 0.0007 0.0022 0.0029 0.0007 0.0022 0.0029 . 0.5766 0.543 0.577 c . . . . . 1.871e-03 . . . 0.0008 0.0016 0.0006 0 0.0016 0.0026 0 0.0010 0.0007 0.0019 0.0006 0 0.0012 0.0030 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.672 0.0002 . . . 0.53 0.55 182 ENSG00000213246 SUPT4H1 SUPT4H1 . . . 1.0 0.983 . 151 0.00232394 64976 150 0.00250058 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.580 0.038 . . 37 . 0.657 . . 0.662 . . . 0.583 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.764 . . 0.551 . . . . . . 3 0.564 . . . . . 0.629 . 0.814 . HET 0.02 rs149078703 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 13.856 8.03E-4 ENST00000225504 5.IV 5.IV . 0.170000 P63272 . . . 0.002153 . 0.614 . . 5.IV 0.0007 0.0020 0.0007 0.0012 0 0.0015 0.0034 0.0020 0.0011 0.0003 0.0024 0.0012 0 0 0.0017 0.0041 0.0020 . . 0.072 . 2.330 2.330000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.444 0.950 . 0.800 . 0.713 2.330 0.917 0.0029 . . rs149078703 rs149078703 1 1538 10 1/0 0,230,255 +rs143957022 17 56432201 G A - RNF43 18505 Ring finger protein 43 NM_001305544.1 -1 5543 2352 NP_001292473.1 Q68DV7 substitution 3'UTR GRCh37 56432201 56432201 Chr17(GRCh37):g.56432201G>A *103 *103 NM_001305544.1:c.*103C>T p.? p.? 10 612482 147 3' 84.9229 7.81793 0.800707 XI.42 84.9229 7.81793 0.800707 XI.42 0 rs143957022 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002325 0.000344 0.001193 0.000000 0.000000 0.000000 0.003998 0.001718 0.002037 0.003998 72 3 1 0 0 0 60 6 2 30972 8730 838 302 1622 0 15006 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 3 1 0 0 0 60 6 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.921 1.013 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.42528737 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . . . . . . . . . 1.0489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0002 . . . 0.61 0.68 182 ENSG00000265148 RNF43 RNF43 . . . . . . 160 0.00246245 64976 159 0.00265062 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143957022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . 0.0003 0.0023 0.0012 0 0 0.0017 0.0040 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs143957022 rs143957022 1 1538 10 1/0 0,255,255 +rs143957022 17 56432201 G A - TSPOAP1-AS1 44148 TSPOAP1 antisense RNA 1 NR_038410.1 1 2483 0 substitution downstream GRCh37 56432201 56432201 Chr17(GRCh37):g.56432201G>A *1113 *1113 NR_038410.1:n.*1113G>A p.? p.? 5 2842 3' 81.6061 10.0974 0.83144 X.53 81.6061 10.0974 0.83144 X.53 0 rs143957022 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002325 0.000344 0.001193 0.000000 0.000000 0.000000 0.003998 0.001718 0.002037 0.003998 72 3 1 0 0 0 60 6 2 30972 8730 838 302 1622 0 15006 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 3 1 0 0 0 60 6 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.921 1.013 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.42528737 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . . . . . . . . . 1.0489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0002 . . . 0.61 0.68 182 ENSG00000265148 RNF43 RNF43 . . . . . . 160 0.00246245 64976 159 0.00265062 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143957022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . 0.0003 0.0023 0.0012 0 0 0.0017 0.0040 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs143957022 rs143957022 1 1538 10 1/0 0,255,255 +rs73990682 17 58288540 G A - USP32 19143 Ubiquitin specific peptidase 32 NM_032582.3 -1 7026 4815 NP_115971.2 Q8NFA0 substitution intron GRCh37 58288540 58288540 Chr17(GRCh37):g.58288540G>A 2319-61 2319-61 NM_032582.3:c.2319-61C>T p.? p.? 21 20 607740 -61 3' 78.5457 X.65 0.606481 4.87875 78.5457 X.65 0.606481 5.30685 0 rs73990682 no no 0 G 0.000000 0 0.006976 0.000115 0.004866 0.045802 0.000000 0.000000 0.013097 0.000000 0.006424 0.045802 210 1 4 12 0 0 187 0 6 30102 8716 822 262 1622 0 14278 3468 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 210 1 4 12 0 0 187 0 6 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition C T C>T 0.000 0.367 235 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||USP32|mRNA|CODING|NM_032582|) . . . . . . . 0.3348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.64 0.33 182 ENSG00000170832 USP32 USP32 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73990682 . 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833504 . . . . . . . . . . . . . . . 0.0001 0.0070 0.0049 0.0458 0 0 0.0131 0.0064 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . rs73990682 rs73990682 rs202201596 1 1538 10 1/0 0,255,255 +rs571048538 17 58292024 C T - USP32 19143 Ubiquitin specific peptidase 32 NM_032582.3 -1 7026 4815 NP_115971.2 Q8NFA0 substitution missense exon GRCh37 58292024 58292024 Chr17(GRCh37):g.58292024C>T 1979 1979 NM_032582.3:c.1979G>A p.Arg660His p.Arg660His 17 607740 -44 5' 91.6164 10.0647 0.988708 2.75569 91.6164 10.0647 0.988708 II.06 0 rs571048538 yes no Frequency/1000G 2 C 0.000599 T 3 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000251 0.000878 0.000447 0.000312 0.000000 0.000371 0.000129 0.000000 0.000318 0.000878 68 21 15 3 0 11 16 0 2 271014 23908 33520 9602 18744 29686 123818 25440 6296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 21 15 3 0 11 16 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 6.016 R Arg CGC 0.190 H His CAC 0.587 660 12 11 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 241.31 I.62 Deleterious 0 IV.32 bad 1.473E-3 0.0001143 182 PASS . . . . . 0.0023 0.0006 . . . . . . USP32:NM_032582:exon17:c.G1979A:p.R660H . . 0.118644066 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.900 . @ . . . . . 1 0.998 . . 59.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R660H|USP32|mRNA|CODING|NM_032582|NM_032582.ex.17) . . . . . . . 0.5474 0.614 0.547 c . . . . . 1.974e-04 . . . 0.0010 0.0003 8.708e-05 0 0 0.0001 0 0.0004 0.0009 0.0002 8.978e-05 0 0 7.492e-05 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.665 . . exonic exonic exonic . . 0.775 0.0006 . . . 0.72 0.35 182 ENSG00000170832 USP32 USP32 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.578 0.038 . . 37 . 0.455 . . 0.483 . . . 0.444 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.571 . . 0 0 0 0 0 0 . 0.505 . . 0.413 . . . . . . 0 0.632 . . . . . 0.935 . 0.787 . LowAF . rs571048538 . . . . . . . . . . . . 19.155 . ENST00000300896 V.39 V.39 . 0.090000 Q8NFA0 . . Name\x3dnsv833504 . . 0.891 . . V.39 0.0008 0.0002 0.0004 0.0003 0 0 0.0001 0.0004 0.0004 0.0010 0.0004 0.0012 0 0 0 0.0001 0 . . 0.924 . 2.539 2.539000 . . 0.090000 . . 1.0E-182 1.000 0.715 . 0.697 0.996 . 0.845 . 0.345 2.539 0.871 . rs62069141 rs62069141 rs62069141 rs62069141 1 1538 10 1/0 0,250,255 +rs752809769 17 58968989 C T - BCAS3 14347 BCAS3, microtubule associated cell migration factor NM_001353144.1 1 3735 2877 NP_001340073.1 substitution intron GRCh37 58968989 58968989 Chr17(GRCh37):g.58968989C>T 738+1857 738+1857 NM_001353144.1:c.738+1857C>T p.? p.? 10 10 607470 1857 5' 94.3644 X.71 0.998843 4.49477 94.3644 X.71 0.998843 4.49477 0 rs752809769 yes no Frequency 1 C 0.000000 0 0.002584 0.000115 0.000000 0.000000 0.000000 0.000000 0.004603 0.001145 0.006122 0.004603 80 1 0 0 0 0 69 4 6 30954 8732 836 302 1620 0 14990 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 1 0 0 0 0 69 4 6 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.37931034 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.1099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000141376 BCAS3 BCAS3 . . . . . . 31 0.000477099 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0026 0 0 0 0.0011 0.0046 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs76100965 17 60342294 A C - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution exon GRCh37 60342294 60342294 Chr17(GRCh37):g.60342294A>C 1835 1835 NR_027486.1:n.1835T>G 14 696 3' 92.0424 X.92 0.970987 XI.72 92.0424 X.92 0.970987 XI.72 0 rs76100965 yes no Frequency/1000G 2 0.000000 0 0.256589 0.189900 0.291400 0.258900 0.290300 0.282400 0.000558 0.000000 0.000000 0.000000 0.004399 0.000000 0.000576 0.000000 0.002193 0.004399 16 0 0 0 6 0 8 0 2 28672 8012 798 282 1364 0 13896 3408 912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 0 0 6 0 8 0 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion T G T>G 0.071 0.125 192 PASS . . . . . 0.19 0.26 0.28 0.26 0.29 0.29 . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L612W|TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|NR_027486.ex.14) . . . . . . . -0.3287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . 0.2566 . . . 0.61 0.3 182 ENSG00000188755 . TBC1D3P2 . dist\x3d50837\x3bdist\x3d3212 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs556248643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0.0044 0 0.0006 0.0022 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs76100965 rs76100965 1 1538 10 1/0 0,255,255 +rs777074851 17 60348311 C T - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60348311 60348311 Chr17(GRCh37):g.60348311C>T 556+20 556+20 NR_027486.1:n.556+20G>A p.? p.? 7 7 20 5' 77.8557 7.09785 0.956669 4.76344 77.8557 7.09785 0.956669 4.16278 0 rs777074851 yes no Frequency 1 0.000000 0 0.000114 0.000088 0.000058 0.000000 0.000054 0.000000 0.000089 0.000557 0.000158 0.000557 31 2 2 0 1 0 11 14 1 271914 22668 34346 10048 18624 30778 123980 25140 6330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 2 2 0 1 0 11 14 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 1.013 182 PASS . . . . . . . . . . . . TBC1D3P2:uc002izq.2:exon7:c.G464A:p.R155K . . . 0.11737089 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 213.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.0958 . . . . . . . . 8.017e-06 . . . 0 1.139e-05 8.663e-05 0 0 0 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.42 0.13 182 ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.51 rs777074851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.17e-05 5.961e-05 0 0 0.0006 0 0 0 0.0002 0.0006 0 0 0.0007 0.0003 0.0008 0.0011 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs2108964 rs2108964 rs2108964 rs2108964 1 1538 10 1/0 0,195,255 +. 17 60348340 C G - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution exon GRCh37 60348340 60348340 Chr17(GRCh37):g.60348340C>G 547 547 NR_027486.1:n.547G>C 7 -10 5' 77.8557 7.09785 0.956669 4.76344 77.8557 7.09785 0.956669 5.21352 0 0.000291 0.000582 0.000030 0.000000 0.000439 0.000000 0.000310 0.000576 0.000644 0.000582 78 13 1 0 8 0 38 14 4 268210 22354 33794 9986 18240 30608 122698 24316 6214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 78 13 1 0 8 0 38 14 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.992 -0.682 209 PASS . . . . . . . . . . . . TBC1D3P2:uc002izq.2:exon7:c.G435C:p.M145I . . . 0.1826923 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 208.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Cga|G183R|TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|NR_027486.ex.7) . . . . . . . -1.2784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . II.76 . ENST00000339120 . . . 1.000000 F8WD16 . . . . . . . . . 0 4.147e-05 0 0 0 0.0005 0 0 0 0.0017 0.0025 0.0014 0 0.0066 0.0012 0.0029 0.0049 . . . . -0.000 -0.000000 . . 1.000000 . . 1.0E-209 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,202,255 +rs756758704 17 60348343 C G - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution exon GRCh37 60348343 60348343 Chr17(GRCh37):g.60348343C>G 544 544 NR_027486.1:n.544G>C 7 -13 5' 77.8557 7.09785 0.956669 4.76344 77.8557 7.09785 0.956669 5.0385 0 Cryptic Acceptor Strongly Activated 60348345 3,00E-06 67.7694 0.0810803 8,00E-06 67.7694 rs756758704 yes no Frequency 1 0.000000 0 0.000388 0.000719 0.000089 0.000000 0.000549 0.000000 0.000392 0.000907 0.000805 0.000907 104 16 3 0 10 0 48 22 5 267786 22268 33752 9988 18216 30600 122504 24246 6212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104 16 3 0 10 0 48 22 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 1.000 0.448 208 PASS . . . . . . . . . . . . TBC1D3P2:uc002izq.2:exon7:c.G432C:p.Q144H . . . 0.17840375 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 213.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D182H|TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|NR_027486.ex.7) . . . . . . . -0.9359 . . . . . . . . 2.381e-05 . . . 0 2.308e-05 8.681e-05 0 0 2.518e-05 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 rs756758704 . . . . . . . . . . . . II.52 . ENST00000339120 . . . 0.070000 F8WD16 . . . . . . . . . 0 7.884e-05 6.053e-05 0 0 0.0008 0 0 0 0.0021 0.0032 0.0014 0 0.0083 0.0016 0.0037 0.0062 . . . . -0.000 -0.000000 . . 0.070000 . . 9.999999999999999E-209 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,200,255 +rs746516122 17 60349920 G C - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349920 60349920 Chr17(GRCh37):g.60349920G>C 271-49 271-49 NR_027486.1:n.271-49C>G p.? p.? 4 3 -49 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 4.24552 0 transversion C G C>G 0.000 -14.080 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.4333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 60349921 G A - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349921 60349921 Chr17(GRCh37):g.60349921G>A 271-50 271-50 NR_027486.1:n.271-50C>T p.? p.? 4 3 -50 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 4.25295 0 Cryptic Acceptor Strongly Activated 60349912 0.916547 0.040946 74.565 2.68565 0.07897 77.2768 transition C T C>T 0.000 -14.080 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.4000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 60349922 C T - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349922 60349922 Chr17(GRCh37):g.60349922C>T 271-51 271-51 NR_027486.1:n.271-51G>A p.? p.? 4 3 -51 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 3.94566 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20706 6408 450 216 1030 0 10032 2028 542 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transition G A G>A 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.11363637 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.3848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 60349967 T A - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349967 60349967 Chr17(GRCh37):g.60349967T>A 271-96 271-96 NR_027486.1:n.271-96A>T p.? p.? 4 3 -96 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 4.18111 0 0.003562 0.001018 0.006667 0.008929 0.002915 0.000000 0.004913 0.004489 0.004373 0.008929 87 8 4 2 4 0 53 13 3 24424 7858 600 224 1372 0 10788 2896 686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 8 4 2 4 0 53 13 3 0 0 0 0 0 0 0 0 0 RF 34 Genomes transversion A T A>T 0.000 -14.080 201 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.3661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0036 0.0067 0.0089 0.0029 0.0045 0.0049 0.0044 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . rs36098924 . . 1 1538 10 1/0 0,255,255 +. 17 60349984 G A - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349984 60349984 Chr17(GRCh37):g.60349984G>A 271-113 271-113 NR_027486.1:n.271-113C>T p.? p.? 4 3 -113 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 4.18111 0 0.004670 0.004614 0.005190 0.005435 0.012846 0.000000 0.004109 0.003719 0.004762 0.012846 102 30 3 1 13 0 41 11 3 21842 6502 578 184 1012 0 9978 2958 630 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102 30 3 1 13 0 41 11 3 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition C T C>T 0.000 -14.080 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.3289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.12 182 ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0047 0.0052 0.0054 0.0128 0.0037 0.0041 0.0048 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs79847388 rs79847388 1 1538 10 1/0 0,255,255 +rs374435300 17 61895518 C T - DDX42 18676 DEAD (Asp-Glu-Ala-Asp) box helicase 42 NM_007372.3 1 4011 2817 NP_031398.2 Q86XP3 substitution synonymous exon GRCh37 61895518 61895518 Chr17(GRCh37):g.61895518C>T 2577 2577 NM_007372.3:c.2577C>T p.His859= p.His859His 19 613369 465 3' 91.1267 11.0925 0.96443 XI.74 91.1267 11.0925 0.96443 XI.74 0 rs374435300 yes no Frequency 1 C 0.000000 0 0.000191 0.000000 0.000000 0.000000 0.000000 0.000032 0.000379 0.000078 0.000310 0.000379 53 0 0 0 0 1 48 2 2 276844 24012 34416 10144 18870 30780 126530 25630 6462 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 51 0 0 0 0 1 46 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 84 transition C T C>T 0.992 0.125 H His CAC 0.587 H His CAT 0.413 859 255 PASS . . . . . . . . . . . . . . . . 0.46120688 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 232.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.6647 . . . . . . . . 1.105e-04 . . . 0 0.0001 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.31 182 ENSG00000198231 DDX42 DDX42 . . . . . . 8 0.000123122 64976 8 0.000133364 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs374435300 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0002 0 0 0 9.033e-05 0.0004 0.0004 3.249e-05 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs374435300 rs374435300 1 1538 10 1/0 0,223,254 +rs374435300 17 61895518 C T - FTSJ3 17136 FtsJ homolog 3 (E. coli) NM_017647.3 -1 3559 2544 NP_060117.3 Q8IY81 substitution downstream GRCh37 61895518 61895518 Chr17(GRCh37):g.61895518C>T *1644 *1644 NM_017647.3:c.*1644G>A p.? p.? 21 1837 3' 74.4759 9.71011 0.976662 6.40792 74.4759 9.71011 0.976662 6.40792 0 rs374435300 yes no Frequency 1 C 0.000000 0 0.000191 0.000000 0.000000 0.000000 0.000000 0.000032 0.000379 0.000078 0.000310 0.000379 53 0 0 0 0 1 48 2 2 276844 24012 34416 10144 18870 30780 126530 25630 6462 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 51 0 0 0 0 1 46 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 84 transition G A G>A 0.992 0.125 255 PASS . . . . . . . . . . . . . . . . 0.46120688 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 232.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.6647 . . . . . . . . 1.105e-04 . . . 0 0.0001 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.31 182 ENSG00000198231 DDX42 DDX42 . . . . . . 8 0.000123122 64976 8 0.000133364 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs374435300 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0002 0 0 0 9.033e-05 0.0004 0.0004 3.249e-05 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs374435300 rs374435300 1 1538 10 1/0 0,223,254 +. 17 62891165 T C - LRRC37A3 32427 Leucine rich repeat containing 37 member A3 NM_199340.4 -1 6047 4905 NP_955372.2 O60309 substitution synonymous exon GRCh37 62891165 62891165 Chr17(GRCh37):g.62891165T>C 2211 2211 NM_199340.4:c.2211A>G p.Pro737= p.Pro737Pro 4 616557 -399 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 0.000557 0.003887 0.000058 0.000100 0.000000 0.000130 0.000359 0.001117 0.000800 0.003887 147 63 2 1 0 4 44 28 5 264146 16206 34308 10020 18802 30782 122714 25064 6250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 147 63 2 1 0 4 44 28 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.008 -0.279 P Pro CCA 0.274 P Pro CCG 0.115 737 175 PASS . . . . . . . . . . . . . LRRC37A3:NM_199340:exon4:c.A2211G:p.P737P . . 0.10344828 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.4051 . . . . . . . . 1.628e-05 . . . 0 2.322e-05 0 0 0 0 0 0.0001 0 1.962e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.42 182 ENSG00000176809 LRRC37A3 LRRC37A3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs750628842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.663e-05 0 0 0 0 0 0 0.0001 0.0132 0.0060 0.0027 0.0039 0 0.0101 0.0034 0.0062 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs62073222 rs62073222 rs62073222 rs62073222 1 1538 10 1/0 0,250,255 +. (chr17:62923815 G/GA) 17 62923815 G GA Not on a known gene +rs56300655 17 64735042 C T - PRKCA 9393 Protein kinase C, alpha NM_002737.2 1 8770 2019 NP_002728.1 P17252 substitution intron GRCh37 64735042 64735042 Chr17(GRCh37):g.64735042C>T 1322+69 1322+69 NM_002737.2:c.1322+69C>T p.? p.? 11 11 176960 69 5' 73.7552 6.95697 0.953704 2.36191 73.7552 6.95697 0.953704 2.24754 0 rs56300655 yes no Frequency 1 C 0.000000 0 0.000285 0.000743 0.000000 0.000000 0.000000 0.000000 0.000148 0.000000 0.000000 0.000743 8 6 0 0 0 0 2 0 0 28044 8074 822 286 1548 0 13548 2912 854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 6 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 51 Genomes transition C T C>T 0.000 -2.135 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||PRKCA|mRNA|CODING|NM_002737|) . . . . . . . -0.6690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.28 182 ENSG00000154229 PRKCA PRKCA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs56300655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0003 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs56300655 rs56300655 rs56300655 rs56300655 1 1538 10 1/0 0,245,255 +rs201370981 17 66265215 G C - ARSG 24102 Arylsulfatase G NM_001267727.1 1 2599 1578 NP_001254656.1 Q96EG1 substitution upstream GRCh37 66265215 66265215 Chr17(GRCh37):g.66265215G>C -23046 -23046 NM_001267727.1:c.-23046G>C p.? p.? 1 610008 -22495 5' 81.2188 9.23916 0.966518 15.4417 81.2188 9.23916 0.966518 15.4417 0 Cryptic Acceptor Strongly Activated 66265229 0.002355 69.9814 0.538071 0.003263 72.3911 rs201370981 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000349 0.000217 0.000243 0.000000 0.000273 0.000205 0.000558 0.000000 0.000000 0.000558 86 5 7 0 5 5 64 0 0 246382 23082 28754 7490 18290 24340 114738 23962 5726 0.000016 0.000000 0.000070 0.000000 0.000109 0.000000 0.000000 0.000000 0.000000 2 0 1 0 1 0 0 0 0 82 5 5 0 3 5 64 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 0.770 200 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.1590909 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.5472 . . . . . . . . 3.168e-04 . . . 0.0001 0.0004 9.098e-05 0.0009 0 0.0005 0 0.0004 0.0001 0.0003 9.388e-05 0.0006 0 0.0004 0 0.0004 . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . 0.44 0.66 182 ENSG00000108932 SLC16A6 SLC16A6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201370981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0002 0 0.0003 0 0.0006 0 0.0002 0.0003 0.0004 0.0012 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs62072156 rs62072156 rs62072156 rs201370981 1 1538 10 1/0 0,237,255 +rs201370981 17 66265215 G C - SLC16A6 10927 Solute carrier family 16, member 6 (monocarboxylic acid transporter 7) NM_004694.4 -1 3828 1572 NP_004685.2 O15403 substitution 3'UTR GRCh37 66265215 66265215 Chr17(GRCh37):g.66265215G>C *22 *22 NM_004694.4:c.*22C>G p.? p.? 6 603880 273 3' 90.4308 8.49056 0.934574 7.35417 90.4308 8.49056 0.934574 7.35417 0 Cryptic Acceptor Strongly Activated 66265215 4.39047 0.015427 73.8787 6.14827 0.321333 79.6372 rs201370981 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000349 0.000217 0.000243 0.000000 0.000273 0.000205 0.000558 0.000000 0.000000 0.000558 86 5 7 0 5 5 64 0 0 246382 23082 28754 7490 18290 24340 114738 23962 5726 0.000016 0.000000 0.000070 0.000000 0.000109 0.000000 0.000000 0.000000 0.000000 2 0 1 0 1 0 0 0 0 82 5 5 0 3 5 64 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 0.770 200 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.1590909 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.5472 . . . . . . . . 3.168e-04 . . . 0.0001 0.0004 9.098e-05 0.0009 0 0.0005 0 0.0004 0.0001 0.0003 9.388e-05 0.0006 0 0.0004 0 0.0004 . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . 0.44 0.66 182 ENSG00000108932 SLC16A6 SLC16A6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201370981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0002 0 0.0003 0 0.0006 0 0.0002 0.0003 0.0004 0.0012 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs62072156 rs62072156 rs62072156 rs201370981 1 1538 10 1/0 0,237,255 +rs74909356 17 71248777 T C - CPSF4L 33632 Cleavage and polyadenylation specific factor 4-like NM_001129885.1 -1 647 540 NP_001123357.1 A6NMK7 substitution synonymous exon GRCh37 71248777 71248777 Chr17(GRCh37):g.71248777T>C 489 489 NM_001129885.1:c.489A>G p.Gln163= p.Gln163Gln 5 -9 5' 74.8217 9.13691 0.941665 3.64765 74.8217 9.13691 0.941665 3.15135 0 Zinc finger, CCCH-type rs74909356 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.007000 0.001400 0.002206 0.000306 0.001049 0.000703 0.000000 0.000131 0.004088 0.002580 0.002474 0.004088 402 5 26 6 0 3 298 52 12 182216 16324 24790 8536 11848 22820 72896 20152 4850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 402 5 26 6 0 3 298 52 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3172 1384 4556 10 0 10 0.00314268 0 0.0021901 0.00314268 0 0.0021901 118 transition A G A>G 0.992 -0.037 Q Gln CAA 0.256 Q Gln CAG 0.744 163 255 PASS . 0.0023 0.0028 . 0.01 . 0.0016 0.0014 . 0.007 . . CPSF4L:uc010dfk.1:exon5:c.A489G:p.Q163Q CPSF4L:NM_001129885:exon5:c.A489G:p.Q163Q . . 0.3529412 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . 0.0022 0.0031 . 0.0022 0.0031 . 0.4724 . . . . . . . . 1.968e-03 . . . 0 0.0018 0.0025 0 0.0294 0.0039 0.0053 0 0 0.0012 0 0 0.0031 0.0031 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.35 0.36 182 ENSG00000187959 CPSF4L CPSF4L . . . . . . 144 0.0022162 64976 136 0.0022672 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . rs74909356 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.002190 . . . . . 0.0004 0.0021 0.0010 0.0007 0 0.0025 0.0039 0.0023 0.0001 0.0002 0.0028 0.0012 0 0 0.0029 0.0048 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs74909356 rs74909356 1 1538 10 1/0 0,255,255 +rs117687984 17 71468356 A G - SDK2 19308 Sidekick homolog 2 (chicken) NM_001144952.1 -1 10722 6519 NP_001138424.1 Q58EX2 substitution missense exon GRCh37 71468356 71468356 Chr17(GRCh37):g.71468356A>G 226 226 NM_001144952.1:c.226T>C p.Tyr76His p.Tyr76His 3 607217 2 3' 74.7597 10.183 0.955101 XII.91 74.7597 9.62089 0.914374 XI.09 -0.0326131 Immunoglobulin Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs117687984 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.001500 0.000000 0.000000 0.008900 0.008600 0.007428 0.001775 0.006257 0.002578 0.000000 0.000044 0.014094 0.004171 0.007435 0.014094 1352 29 155 22 0 1 1025 84 36 182024 16336 24772 8534 11860 22814 72728 20138 4842 0.000110 0.000122 0.000000 0.000000 0.000000 0.000000 0.000220 0.000099 0.000000 10 1 0 0 0 0 8 1 0 1332 27 155 22 0 1 1009 82 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3142 1384 4526 40 0 40 0.0125707 0 0.0087604 0.0125707 0 0.0087604 30 transition T C T>C 1.000 4.644 Y Tyr TAC 0.562 H His CAC 0.587 76 13 6 Chicken 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 255 PASS 0.002 0.01 0.01 . 0.01 0.0015 0.0034 0.0086 . 0.0089 . . SDK2:uc010dfm.3:exon3:c.T226C:p.Y76H SDK2:NM_001144952:exon3:c.T226C:p.Y76H . . 0.51111114 . . @ 92 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.752 . @ . . . . . 1 0.869 . . 180.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y76H|SDK2|mRNA|CODING|NM_001144952|NM_001144952.ex.3) . 0.0088 0.013 . 0.0088 0.013 . 0.5351 0.508 0.535 c . . . . . 5.323e-03 . . . 0.0019 0.0060 0.0098 0 0.0278 0.0127 0.0105 0 0.0013 0.0033 0.0136 0 0.0031 0.0086 0.0112 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.213 . . exonic exonic exonic . . 0.577 0.0034 . . . 0.55 0.32 182 ENSG00000069188 SDK2 SDK2 . . . 1.000 0.401 . 637 0.00980362 64976 620 0.0103357 59986 Uncertain_significance . 0 . 0.523 . . . . . . . . . 37 . 0.302 . . 0.078 . . . 0.608 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.519 . . 0 0 0 0 0 0 . 0.449 . . 0.536 . . . . . . 0 0.306 . . . . . 0.640 . 0.818 . HET 0 rs117687984 0.022 0.014 . . . . . 0.005494505494505495 0.0020325203252032522 0.011049723756906077 0.0 0.009234828496042216 14.0285 0.0 . IV.66 IV.66 . . Q58EX2 0.0729 0.4 . 0.008760 . 0.849 . . IV.66 0.0020 0.0070 0.0061 0.0027 0 0.0040 0.0134 0.0070 4.383e-05 0.0016 0.0097 0.0107 0 0 0.0052 0.0167 0.0092 . . 0.372 . 1.860 1.860000 . . . . . 1.0E-255 1.000 0.715 . 0.373 0.959 . 0.913 . 0.882 1.860 1.062 0.022 . . rs117687984 rs117687984 1 1538 10 1/0 0,235,252 +. 17 72346777 C T - KIF19 26735 Kinesin family member 19 NM_153209.3 1 3643 2997 NP_694941.2 Q2TAC6 substitution intron GRCh37 72346777 72346777 Chr17(GRCh37):g.72346777C>T 1388+63 1388+63 NM_153209.3:c.1388+63C>T p.? p.? 11 11 63 5' 85.2607 9.14401 0.997363 12.0023 85.2607 9.14401 0.997363 XI.99 0 rs886980142 yes no Frequency 1 C 0.000000 0 0.000323 0.000000 0.000000 0.000000 0.000000 0.000000 0.000601 0.000000 0.001022 0.000601 10 0 0 0 0 0 9 0 1 30950 8730 838 302 1622 0 14986 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 9 0 1 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.3918919 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||KIF19|mRNA|CODING|NM_153209|) . . . . . . . -0.0359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196169 KIF19 KIF19 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0 0.0006 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs763846707 17 72436711 G A - GPRC5C 13309 G protein-coupled receptor, family C, group 5, member C NM_022036.2 1 2373 1461 NP_071319.2 substitution missense exon GRCh37 72436711 72436711 Chr17(GRCh37):g.72436711G>A 931 931 NM_022036.2:c.931G>A p.Gly311Ser p.Gly311Ser 2 605949 -256 5' 85.557 8.56441 0.876558 5.63237 85.557 8.56441 0.876558 5.63237 0 New Acceptor Site 72436713 5.31783 0.248846 80.3947 GPCR, family 3, C-terminal rs763846707 yes no Frequency 1 G 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000155 0.000016 3 0 0 0 0 0 2 0 1 277096 24022 34418 10144 18870 30782 126612 25780 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1385767 Large intestine 0.000448 2231 transition G A G>A 1.000 5.936 G Gly GGC 0.342 S Ser AGC 0.243 311 14 14 Tetraodon 0 0 -1 0.74 I.42 9 9.II 3 32 56 C55 0.00 55.27 Deleterious 0 III.64 good 2.746E-2 7.356E-5 255 PASS . . . . . . . . . . . . . . . . 0.49342105 . . @ 75 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.619 . @ . . . . . 1 0.894 . . 152.0 . . . . . . . . . . 0.7745 0.703 0.775 c . . . . . 7.893e-06 . . . . . . . . . . . 0 9.423e-06 0 0 0 1.841e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.880 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000170412 GPRC5C GPRC5C . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.846 0.168 . . 37 . 0.937 . . 0.934 . . . 0.833 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.752 . . 0 0 0 0 0 0 . 0.899 . . 0.818 . . . . . . 0 0.332 . . . . . 0.914 . 0.854 . HET 0 rs763846707 . . . . . . . . . . . . 18.6707 . . V.63 V.63 . 0.090000 . . . . . . 0.939 . . V.63 0 8.124e-06 0 0 0 0 1.791e-05 0 0 0 3.235e-05 0 0 0 0 0 0.0010 . . 0.830 . 2.659 2.659000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.471 0.982 . 0.860 . 0.713 2.659 0.917 . . . . . 1 1538 10 1/0 0,241,255 +rs4319809 17 72889676 G C - FADS6 30459 Fatty acid desaturase domain family, member 6 NM_178128.3 -1 2052 1053 NP_835229.2 substitution synonymous exon GRCh37 72889676 72889676 Chr17(GRCh37):g.72889676G>C 18 18 NM_178128.3:c.18C>G p.Pro6= p.Pro6Pro 1 -173 5' 90.6189 10.0684 0.972858 18.6958 90.6189 10.0684 0.972858 18.6958 0 rs4319809 yes no Frequency/1000G 2 0.000000 0 COSM1385861|COSM1385861|COSM1385861|COSM1385861 Thyroid|Haematopoietic and lymphoid tissue|Central nervous system|Breast 0.002677|0.000278|0.002118|0.000408 747|3598|2361|2453 transversion C G C>G 0.024 0.286 P Pro CCC 0.328 P Pro CCG 0.115 6 254 PASS 0.37 0.41 0.44 0.42 0.43 . . . . . . ENSG00000172782:ENST00000310226:exon1:c.C18G:p.P6P FADS6:uc002jmd.1:exon1:c.C18G:p.P6P FADS6:NM_178128:exon1:c.C18G:p.P6P . . 0.31782946 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 258.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccG|P6|FADS6|mRNA|CODING|NM_178128|NM_178128.ex.1) . . . . . . . 0.7471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.31 182 ENSG00000172782 FADS6 FADS6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4319809 0.076 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.44 rs4319809 rs4319809 rs4319809 rs4319809 1 1538 10 1/0 0,205,255 +rs564998315 17 73222843 T C - NUP85 8734 Nucleoporin 85kDa NM_024844.4 1 2363 1971 NP_079120.1 Q9BW27 substitution intron GRCh37 73222843 73222843 Chr17(GRCh37):g.73222843T>C 1094+591 1094+591 NM_024844.4:c.1094+591T>C p.? p.? 11 11 170285 591 5' 84.5905 9.78584 0.948773 2.79531 84.5905 9.78584 0.948773 2.79531 0 rs564998315 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000025 0.000000 0.000044 0.000000 0.000000 0.000000 0.000023 0.000000 0.000294 0.000044 3 0 1 0 0 0 1 0 1 119918 5810 22782 7728 9550 21818 43760 5068 3402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 43 Exomes transition T C T>C 0.000 0.044 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.0188 . . . . . . . . 1.971e-04 . . . 0 0.0001 0 0 . 0.0004 0 0 0 0.0001 0 0 . 0.0004 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000125450 NUP85 NUP85 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs564998315 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv908758 . . . . . . 0 2.502e-05 4.389e-05 0 0 0 2.285e-05 0.0003 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200570062 17 73258570 C T - GGA3 17079 Golgi-associated, gamma adaptin ear containing, ARF binding protein 3 NM_138619.3 -1 3919 2172 NP_619525.1 Q9NZ52 substitution upstream GRCh37 73258570 73258570 Chr17(GRCh37):g.73258570C>T -902 -902 NM_138619.3:c.-902G>A p.? p.? 1 606006 -942 5' 70.4593 7.67679 0.86107 9.20514 70.4593 7.67679 0.86107 9.20514 0 rs200570062 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.002000 0.005800 0.001952 0.000500 0.001164 0.001992 0.000000 0.001594 0.003018 0.001126 0.001395 0.003018 539 12 40 20 0 49 380 29 9 276140 23996 34364 10038 18864 30742 125924 25762 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 539 12 40 20 0 49 380 29 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4404 12984 20 2 22 0.00232558 0.000453926 0.00169153 0.00232558 0.000453926 0.00169153 124 RCV000420408.1 germline clinical testing Likely benign 1 not specified transition G A G>A 0.000 -0.521 255 PASS . 0.0018 0.01 . 0.0026 . 0.0012 0.0058 . 0.002 . . . . . . 0.48251748 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.126 . @ . . . . . 2 0.104 . . 143.0 . . . 0.0005 0.0017 0.0023 0.0005 0.0017 0.0023 . 1.0238 5.058 1.024 n . . . . . 1.737e-03 . . . 0.0005 0.0019 0.0009 0 0.0008 0.0031 0.0028 0.0015 0.0003 0.0016 0.0009 0 0.0008 0.0023 0.0015 0.0015 nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.031 0.0012 . . . 0.34 0.31 182 ENSG00000125445 MRPS7 MRPS7 . . . 1.000 0.747 . 81 0.00124661 64976 75 0.00125029 59986 . . 0 . . . . . . T 0.019 0.001 . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . 0.001 . 0.069 . HET . rs200570062 . . . . . . . . . . . . . . . . . . . . 0.0001 0.042 . 0.001692 . 0.120 . . . 0.0005 0.0018 0.0012 0.0020 0 0.0010 0.0027 0.0009 0.0016 0.0005 0.0032 0.0012 0.0033 0 0.0020 0.0054 0.0041 . . 0.401 . . . . . . . . 1.0E-255 0.000 0.063 . 0.120 0.054 . 0.007 . 0.009 . -0.261 0.01 . . rs200570062 rs200570062 1 1538 10 1/0 0,247,255 +rs200570062 17 73258570 C T - MRPS7 14499 Mitochondrial ribosomal protein S7 NM_015971.3 1 1415 729 NP_057055.2 Q9Y2R9 substitution intron GRCh37 73258570 73258570 Chr17(GRCh37):g.73258570C>T 84-8 84-8 NM_015971.3:c.84-8C>T p.? p.? 2 1 611974 -8 3' 81.8493 9.85113 0.986653 7.32334 83.6592 9.84496 0.98647 7.63928 0.00709984 rs200570062 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.002000 0.005800 0.001952 0.000500 0.001164 0.001992 0.000000 0.001594 0.003018 0.001126 0.001395 0.003018 539 12 40 20 0 49 380 29 9 276140 23996 34364 10038 18864 30742 125924 25762 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 539 12 40 20 0 49 380 29 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4404 12984 20 2 22 0.00232558 0.000453926 0.00169153 0.00232558 0.000453926 0.00169153 124 RCV000420408.1 germline clinical testing Likely benign 1 not specified transition C T C>T 0.000 -0.521 255 PASS . 0.0018 0.01 . 0.0026 . 0.0012 0.0058 . 0.002 . . . . . . 0.48251748 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.126 . @ . . . . . 2 0.104 . . 143.0 . . . 0.0005 0.0017 0.0023 0.0005 0.0017 0.0023 . 1.0238 5.058 1.024 n . . . . . 1.737e-03 . . . 0.0005 0.0019 0.0009 0 0.0008 0.0031 0.0028 0.0015 0.0003 0.0016 0.0009 0 0.0008 0.0023 0.0015 0.0015 nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.031 0.0012 . . . 0.34 0.31 182 ENSG00000125445 MRPS7 MRPS7 . . . 1.000 0.747 . 81 0.00124661 64976 75 0.00125029 59986 . . 0 . . . . . . T 0.019 0.001 . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . 0.001 . 0.069 . HET . rs200570062 . . . . . . . . . . . . . . . . . . . . 0.0001 0.042 . 0.001692 . 0.120 . . . 0.0005 0.0018 0.0012 0.0020 0 0.0010 0.0027 0.0009 0.0016 0.0005 0.0032 0.0012 0.0033 0 0.0020 0.0054 0.0041 . . 0.401 . . . . . . . . 1.0E-255 0.000 0.063 . 0.120 0.054 . 0.007 . 0.009 . -0.261 0.01 . . rs200570062 rs200570062 1 1538 10 1/0 0,247,255 +. 17 73567202 T G - LLGL2 6629 Lethal giant larvae homolog 2 (Drosophila) NM_001031803.1 1 3548 3063 NP_001026973.1 Q6P1M3 substitution intron GRCh37 73567202 73567202 Chr17(GRCh37):g.73567202T>G 2176+21 2176+21 NM_001031803.1:c.2176+21T>G p.? p.? 17 17 21 5' 74.2807 8.34018 0.936766 X.43 74.2807 8.34018 0.936766 11.0305 0 transversion T G T>G 0.000 -0.360 209 PASS . . . . . . . . . . . . . . . . 0.18604651 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 0.6877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000073350 LLGL2 LLGL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs936054 17 73601755 G A - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 substitution intron GRCh37 73601755 73601755 Chr17(GRCh37):g.73601755G>A 3900+53 3900+53 NR_003587.2:n.3900+53G>A p.? p.? 18 18 53 5' 85.2503 8.22968 0.905226 5.14169 85.2503 8.22968 0.905226 5.1251 0 rs936054 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30925 8729 838 302 1622 0 14968 3486 980 30926 8730 838 302 1622 0 14968 3486 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15462 4364 419 151 811 0 7484 1743 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.000 -1.409 111 PASS 1. 1. 0.99 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||MYO15B|mRNA|CODING|NM_001309242|) . . . . . . . -0.0665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.24 0.27 182 ENSG00000266714 MYO15B MYO15B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs936054 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs936054 rs936054 rs936054 rs936054 1 1538 255 1.I 0,0,255 +. 17 73612642 A AT - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 duplication exon GRCh37 73612643 73612644 Chr17(GRCh37):g.73612643dup 6032 6032 NR_003587.2:n.6032dup 37 39 3' 81.62 VIII.04 0.499437 6.65133 81.62 VIII.04 0.499437 7.33726 0 rs11439064 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999982 0.999933 1.000000 1.000000 0.999913 1.000000 0.999985 1.000000 1.000000 1.000000 165829 14941 24584 8360 11541 22554 68747 10408 4694 165832 14942 24584 8360 11542 22554 68748 10408 4694 0.999964 0.999866 1.000000 1.000000 0.999827 1.000000 0.999971 1.000000 1.000000 82913 7470 12292 4180 5770 11277 34373 5204 2347 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes T 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . MYO15B:uc002jor.1:exon14:c.2dupT:p.M1fs UNKNOWN . . 1.0 . . . 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 127 . . FRAME_SHIFT(HIGH||||MYO15B|mRNA|CODING|NM_001309242|NM_001309242.ex.38) . . . . . . . . . . . . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . frameshift_insertion unknown . . . intergenic exonic exonic . . . . . . . . . . . MYO15B MYO15B dist\x3d3454\x3bdist\x3d10292 . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11439064 0.065 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 0.9999 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11439064 rs11439064 rs11439064 1 1538 255 1.I 0,0,255 +rs55841054 17 73619953 C G - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 substitution intron GRCh37 73619953 73619953 Chr17(GRCh37):g.73619953C>G 7907+19 7907+19 NR_003587.2:n.7907+19C>G p.? p.? 52 52 19 5' 70.3577 8.55869 0.738915 6.0823 70.3577 8.55869 0.738915 6.26376 0 Cryptic Donor Strongly Activated 73619948 0.005356 63.9468 7.84954 0.300369 76.6428 rs55841054 yes no Frequency/1000G 2 G 0.000000 0 0.962660 0.872900 0.993900 1.000000 0.996000 0.987000 transversion C G C>G 0.000 0.125 111 PASS . . . . . 0.87 0.96 0.99 1. 1. 0.99 . . . . . 0.9907407 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . 0.2207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intronic intronic . . . 0.0373 . . . 0.29 0.4 182 . MYO15B MYO15B dist\x3d10765\x3bdist\x3d2981 . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs55841054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs55841054 rs55841054 rs55841054 rs55841054 1 1538 255 1.I 0,0,255 +rs55894182 17 73619954 T G - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 substitution intron GRCh37 73619954 73619954 Chr17(GRCh37):g.73619954T>G 7907+20 7907+20 NR_003587.2:n.7907+20T>G p.? p.? 52 52 20 5' 70.3577 8.55869 0.738915 6.0823 70.3577 8.55869 0.738915 5.95459 0 rs55894182 yes no Frequency/1000G 2 G 0.000000 0 0.962660 0.872900 0.993900 1.000000 0.996000 0.987000 0.000031 0.000337 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000337 5 5 0 0 0 0 0 0 0 162996 14840 24574 8348 11536 22552 67530 8996 4620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.117 111 PASS . . . . . 0.87 0.96 0.99 1. 1. 0.99 . . . . . 0.9907407 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . 0.1230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intronic intronic . . . 0.0373 . . . 0.28 0.26 182 . MYO15B MYO15B dist\x3d10766\x3bdist\x3d2980 . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs55894182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 7.568e-06 0 0 0 0 0 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs55894182 rs55894182 rs55894182 rs55894182 1 1538 255 1.I 0,0,255 +. 17 73619955 TCTG T - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 deletion intron GRCh37 73619956 73619958 Chr17(GRCh37):g.73619956_73619958del 7907+22 7907+24 NR_003587.2:n.7907+22_7907+24del p.? p.? 52 52 22 5' 70.3577 8.55869 0.738915 6.0823 70.3577 8.55869 0.738915 6.25891 0 rs10578377 yes no Frequency/1000G 2 0.000000 0 0.962859 0.872900 0.993900 1.000000 0.996000 0.988500 0.000031 0.000337 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000337 5 5 0 0 0 0 0 0 0 162994 14836 24576 8348 11536 22552 67532 8994 4620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes CTG 255 Pass 0.88 0.97 0.98 1. 1. 0.87 0.96 0.99 1. 1. 0.99 . . . . . 0.9908257 . . . 108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intronic intronic . . . . . . . . . . . MYO15B MYO15B dist\x3d10768\x3bdist\x3d2976 . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs10578377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 7.568e-06 0 0 0 0 0 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs10578377 rs10578377 1 1538 255 1.I 0,0,255 +rs373179528 17 73926022 C T - FBF1 24674 Fas (TNFRSF6) binding factor 1 NM_001319193.1 -1 4679 3447 NP_001306122.1 substitution intron GRCh37 73926022 73926022 Chr17(GRCh37):g.73926022C>T 279+56 279+56 NM_001319193.1:c.279+56G>A p.? p.? 6 6 616807 56 5' 94.6745 X.23 0.997987 8.47011 94.6745 X.23 0.997987 8.33901 0 rs373179528 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.000550 0.000115 0.000000 0.000000 0.000000 0.000000 0.000601 0.001720 0.001022 0.001720 17 1 0 0 0 0 9 6 1 30918 8720 838 302 1620 0 14972 3488 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 1 0 0 0 0 9 6 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes 3179 1384 4563 3 0 3 0.000942803 0 0.00065703 0.000942803 0 0.00065703 16 transition G A G>A 0.000 0.125 255 PASS . . . . . . 0.0008 . . 0.004 . . . . . . 0.42857143 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . INTRON(MODIFIER||||FBF1|mRNA|CODING|NM_001080542|) . 0.0007 0.0009 . 0.0007 0.0009 . -0.0271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.3 0.31 182 ENSG00000188878 FBF1 FBF1 . . . . . . 27 0.000415538 64976 23 0.000383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373179528 . . . . . . . . . . . . . . . . . . . . . . . 0.000657 . . . . . . . . . . . . . . 0.0001 0.0005 0 0 0 0.0017 0.0006 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs373179528 rs373179528 1 1538 10 1/0 0,255,255 +. 17 74536166 G A - PRCD 32528 Progressive rod-cone degeneration NM_001077620.2 1 1994 165 NP_001071088.1 Q00LT1 substitution 5'UTR GRCh37 74536166 74536166 Chr17(GRCh37):g.74536166G>A -58 -58 NM_001077620.2:c.-58G>A p.? p.? 1 610598 -132 5' 67.7768 4.26781 0.450002 9.18721 67.7768 4.26781 0.450002 9.18721 0 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3490566 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . I.89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000214140 PRCD PRCD ENST00000592014:c.-58G>A uc002jrx.2:c.-58G>A NM_001077620:c.-58G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv908831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs143320926 17 75205547 G T - SEC14L1 10698 SEC14-like 1 (S. cerevisiae) NM_001039573.2 1 3017 2160 NP_001034662.2 substitution missense exon GRCh37 75205547 75205547 Chr17(GRCh37):g.75205547G>T 1600 1600 NM_001039573.2:c.1600G>T p.Ala534Ser p.Ala534Ser 14 601504 -12 5' 86.16 X.92 0.998975 13.3833 86.16 X.92 0.998975 13.4021 0 GOLD rs143320926 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.005000 0.000000 0.004061 0.000625 0.001017 0.002365 0.000000 0.010205 0.004979 0.003398 0.002940 0.010205 1124 15 35 24 0 314 630 87 19 276770 24004 34402 10146 18856 30770 126528 25602 6462 0.000072 0.000000 0.000000 0.000000 0.000000 0.000325 0.000047 0.000156 0.000000 10 0 0 0 0 5 3 2 0 1104 15 35 24 0 304 624 83 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8555 4406 12961 45 0 45 0.00523256 0 0.00345994 0.00523256 0 0.00345994 68 transversion G T G>T 0.992 3.676 A Ala GCC 0.403 S Ser TCC 0.220 534 15 11 Tetraodon 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 256.17 0.00 Tolerated 0.4 III.58 good 7.519E-1 0.4335 255 PASS . 0.0027 0.0028 . 0.01 . 0.0014 . . 0.005 0.002 . . . . . 0.4532374 . . @ 63 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.364 . @ . . . . . 1 0.164 . . 139.0 . . . . 0.0035 0.0052 . 0.0035 0.0052 . -0.1607 0.017 -0.161 c . . . . . 4.546e-03 . . . 0.0004 0.0039 0.0011 0 0.0027 0.0037 0.0057 0.0101 0.0005 0.0049 0.0011 0 0.0031 0.0058 0.0029 0.0101 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.392 . . exonic exonic exonic . . 0.806 0.0014 . . . 0.48 0.45 182 ENSG00000129657 SEC14L1 SEC14L1 . . . 1.000 0.747 . 231 0.00355516 64976 224 0.0037342 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.242 . . 0.079 . . . 0.763 0.537 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.156 . . 0 0 0 0 0 0 . 0.194 . . 0.179 . . . . . . 0 0.067 . . . . . 0.597 . 0.440 . HET 0.43 rs143320926 . . . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 13.3184 0.0 . V.48 V.48 . 0.860000 . . . . 0.003460 . 0.523 . . V.48 0.0005 0.0042 0.0010 0.0023 0 0.0034 0.0050 0.0027 0.0102 0.0009 0.0032 0 0.0033 0 0.0034 0.0049 0.0041 . . 0.854 . 2.553 2.553000 . . 0.860000 . . 1.0E-255 1.000 0.715 . 0.238 0.983 . 0.718 . 0.665 2.553 0.917 0.01 . . rs143320926 rs143320926 1 1538 10 1/0 0,243,255 +rs72899753 17 76354469 C T - SOCS3 19391 Suppressor of cytokine signaling 3 NM_003955.4 -1 2737 678 NP_003946.3 O14543 substitution 3'UTR GRCh37 76354469 76354469 Chr17(GRCh37):g.76354469C>T *30 *30 NM_003955.4:c.*30G>A p.? p.? 2 604176 796 3' 81.8153 X.62 0.947551 XII.75 81.8153 X.62 0.947551 XII.75 0 rs72899753 yes no Frequency/1000G 2 C 0.000000 0 0.003195 0.001500 0.002000 0.000000 0.011900 0.000000 0.007597 0.002021 0.000931 0.002079 0.000000 0.002081 0.011161 0.018721 0.007161 0.018721 2093 48 32 21 0 64 1402 480 46 275502 23752 34380 10100 18832 30756 125618 25640 6424 0.000123 0.000000 0.000000 0.000000 0.000000 0.000000 0.000191 0.000312 0.000311 17 0 0 0 0 0 12 4 1 2059 48 32 21 0 64 1378 472 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8524 4393 12917 74 5 79 0.00860665 0.00113688 0.00607879 0.00860665 0.00113688 0.00607879 19 transition G A G>A 0.000 0.609 255 PASS 0.0041 0.01 . . 0.01 0.0015 0.0032 . . 0.012 0.002 . . . . . 0.4848485 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 66.0 . . . 0.0011 0.0061 0.0086 0.0011 0.0061 0.0086 . I.80 . . . . . . . . 8.144e-03 . . . 0.0015 0.0058 0.0009 0 0.0196 0.0090 0.0104 0.0023 0.0013 0.0083 0.0008 0 0.0209 0.0125 0.0120 0.0023 . . . . . . UTR3 UTR3 UTR3 . . . 0.0032 . . . 0.61 0.61 182 ENSG00000184557 SOCS3 SOCS3 ENST00000330871:c.*30G>A uc002jvl.2:c.*30G>A NM_003955:c.*30G>A . . . 547 0.00841849 64976 531 0.00885207 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72899753 0.022 0.072 . . . . . . . . . . . . . . . . . . . . . 0.006079 . . . . . 0.0018 0.0075 0.0010 0.0020 0 0.0182 0.0113 0.0064 0.0021 0.0024 0.0086 0 0.0033 0 0.0218 0.0105 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . rs72899753 rs72899753 rs72899753 1 1538 10 1/0 0,255,255 +rs200541156 17 76374763 C T - PGS1 30029 Phosphatidylglycerophosphate synthase 1 NM_024419.4 1 2328 1671 NP_077733.3 Q32NB8 substitution missense exon GRCh37 76374763 76374763 Chr17(GRCh37):g.76374763C>T 17 17 NM_024419.4:c.17C>T p.Ala6Val p.Ala6Val 1 614942 -127 5' 87.2541 7.65636 0.864476 XII.36 87.2541 7.65636 0.864476 XII.36 0 rs200541156 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.006125 0.001812 0.000340 0.001337 0.000000 0.000877 0.010041 0.017551 0.005605 0.017551 967 23 8 10 0 19 674 209 24 157890 12690 23508 7478 9224 21672 67128 11908 4282 0.000165 0.000000 0.000000 0.000000 0.000000 0.000000 0.000298 0.000504 0.000000 13 0 0 0 0 0 10 3 0 941 23 8 10 0 19 654 203 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7196 3337 10533 50 3 53 0.00690036 0.000898204 0.00500661 0.00690036 0.000898204 0.00500661 6 COSM4988895|COSM4988895 Soft tissue|Large intestine 0.003676|0.000448 544|2231 transition C T C>T 1.000 2.707 A Ala GCA 0.226 V Val GTA 0.114 6 13 6 Tetraodon 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0. . . . . 0.0004 . . 0.001 0.001 . PGS1:uc002jvm.3:exon1:c.C17T:p.A6V PGS1:NM_024419:exon1:c.C17T:p.A6V . . 0.4883721 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.376 . @ . . . . . 1 0.585 . . 43.0 . . . 0.0009 0.005 0.0069 0.0009 0.005 0.0069 . 0.2582 0.167 0.258 c . . . . . 5.339e-03 . . . 0.0038 0.0066 0.0021 0 0.1154 0.0156 0.0076 0.0012 0.0021 0.0162 0.0022 0 0.1034 0.0396 0.0161 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.408 0.0004 . . . 0.61 0.49 182 ENSG00000087157 PGS1 PGS1 . . . 1.0 0.983 . 403 0.00620229 64976 394 0.0065682 59986 Uncertain_significance . 0 . 0.318 . . . . . . . . . 37 . 0.560 . . 0.637 . . . 0.170 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.131 . . 0 0 0 0 0 0 . 0.574 . . 0.653 . . . . . . 1 0.477 . . . . . 0.564 . 0.375 . HET 0 rs200541156 . 0.043 . . . . . 0.0 0.0 0.0 0.0 0.0 XII.84 7.39E-4 ENST00000262764 III.65 III.65 . 0.040000 Q32NB8 . . . 0.005007 . 0.319 . . III.65 0.0013 0.0058 0.0004 0.0013 0 0.0157 0.0105 0.0042 0.0009 0.0021 0.0075 0 0.0033 0 0.0221 0.0083 0.0102 . . 0.040 . 1.995 1.995000 . . 0.040000 . . 1.0E-255 0.984 0.356 . 0.150 0.947 . 0.354 . 0.341 1.995 0.356 0.0069 . . rs200541156 rs200541156 1 1538 10 1/0 0,255,255 +rs72914863 17 76419984 G A - DNAH17 2946 Dynein, axonemal, heavy chain 17 NM_173628.3 -1 13723 13389 NP_775899.3 substitution 3'UTR GRCh37 76419984 76419984 Chr17(GRCh37):g.76419984G>A *3 *3 NM_173628.3:c.*3C>T p.? p.? 81 610063 251 3' 89.7307 8.1053 0.685302 X.84 89.7307 8.1053 0.685302 X.84 0 rs72914863 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.001500 0.001000 0.001000 0.007000 0.000000 0.006019 0.001915 0.000639 0.001183 0.000477 0.002762 0.008553 0.014368 0.006339 0.014368 1667 46 22 12 9 85 1082 370 41 276950 24026 34418 10140 18870 30778 126498 25752 6468 0.000101 0.000000 0.000000 0.000000 0.000000 0.000065 0.000142 0.000233 0.000309 14 0 0 0 0 1 9 3 1 1639 46 22 12 9 83 1064 364 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4399 12939 60 7 67 0.00697674 0.00158874 0.00515147 0.00697674 0.00158874 0.00515147 110 transition C T C>T 0.000 -0.198 255 PASS 0.0041 0.0032 . . 0.01 0.0015 0.0022 . 0.001 0.007 0.001 . . . . . 0.5412844 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . 0.0016 0.0052 0.007 0.0016 0.0052 0.007 . -0.0528 . . . . . . . . 6.835e-03 . . . 0.0015 0.0043 0.0004 0.0004 0.0155 0.0060 0.0084 0.0030 0.0013 0.0068 0.0004 0.0001 0.0160 0.0100 0.0115 0.0030 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.24 0.36 182 ENSG00000187775 DNAH17 DNAH17 . . NM_173628:c.*3C>T . . . 407 0.00626385 64976 396 0.00660154 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72914863 0.011 0.065 . . . . . . . . . . . . . . . . . . . . . 0.005151 . . . . . 0.0018 0.0060 0.0007 0.0011 0.0005 0.0138 0.0087 0.0060 0.0028 0.0021 0.0064 0 0.0033 0.0006 0.0178 0.0072 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72914863 rs72914863 rs72914863 1 1538 10 1/0 0,252,255 +rs72914863 17 76419984 G A - PGS1 30029 Phosphatidylglycerophosphate synthase 1 NM_024419.4 1 2328 1671 NP_077733.3 Q32NB8 substitution intron GRCh37 76419984 76419984 Chr17(GRCh37):g.76419984G>A *11-158 *11-158 NM_024419.4:c.*11-158G>A p.? p.? 10 9 614942 -158 3' 75.7212 6.94416 0.434137 6.17729 75.7212 6.94416 0.434137 6.17729 0 rs72914863 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.001500 0.001000 0.001000 0.007000 0.000000 0.006019 0.001915 0.000639 0.001183 0.000477 0.002762 0.008553 0.014368 0.006339 0.014368 1667 46 22 12 9 85 1082 370 41 276950 24026 34418 10140 18870 30778 126498 25752 6468 0.000101 0.000000 0.000000 0.000000 0.000000 0.000065 0.000142 0.000233 0.000309 14 0 0 0 0 1 9 3 1 1639 46 22 12 9 83 1064 364 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4399 12939 60 7 67 0.00697674 0.00158874 0.00515147 0.00697674 0.00158874 0.00515147 110 transition G A G>A 0.000 -0.198 255 PASS 0.0041 0.0032 . . 0.01 0.0015 0.0022 . 0.001 0.007 0.001 . . . . . 0.5412844 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . 0.0016 0.0052 0.007 0.0016 0.0052 0.007 . -0.0528 . . . . . . . . 6.835e-03 . . . 0.0015 0.0043 0.0004 0.0004 0.0155 0.0060 0.0084 0.0030 0.0013 0.0068 0.0004 0.0001 0.0160 0.0100 0.0115 0.0030 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.24 0.36 182 ENSG00000187775 DNAH17 DNAH17 . . NM_173628:c.*3C>T . . . 407 0.00626385 64976 396 0.00660154 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72914863 0.011 0.065 . . . . . . . . . . . . . . . . . . . . . 0.005151 . . . . . 0.0018 0.0060 0.0007 0.0011 0.0005 0.0138 0.0087 0.0060 0.0028 0.0021 0.0064 0 0.0033 0.0006 0.0178 0.0072 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72914863 rs72914863 rs72914863 1 1538 10 1/0 0,252,255 +rs72851220 17 76888319 G A - CEP295NL 44659 CEP295 N-terminal like NM_001243540.1 -1 2106 1866 NP_001230469.1 Q96MC4 substitution synonymous exon GRCh37 76888319 76888319 Chr17(GRCh37):g.76888319G>A 267 267 NM_001243540.1:c.267C>T p.Gly89= p.Gly89Gly 3 223 3' 81.6672 X.93 0.992168 13.3332 81.6672 X.93 0.992168 13.3332 0 Cryptic Donor Strongly Activated 76888321 67.3122 4.41481 0.171021 77.1596 rs72851220 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.007000 0.000000 0.005966 0.001499 0.000851 0.000000 0.000000 0.002567 0.007971 0.018743 0.005396 0.018743 1047 23 21 0 0 58 539 380 26 175492 15344 24686 8410 11748 22594 67618 20274 4818 0.000125 0.000000 0.000000 0.000000 0.000000 0.000000 0.000148 0.000592 0.000000 11 0 0 0 0 0 5 6 0 1025 23 21 0 0 58 529 368 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -3.426 G Gly GGC 0.342 G Gly GGT 0.162 89 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.007 0.001 ENSG00000178404:ENST00000322630:exon3:c.C267T:p.G89G . . . . 0.5 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.4706 . . . . . . . . 3.654e-03 . . . 0.0011 0.0032 0.0034 0 0.0395 0.0045 0 0.0025 0 0.0047 0.0045 0 0.0186 0.0040 0 0.0025 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.35 0.31 182 ENSG00000178404 LOC100653515 CEP295NL . . . . . . 482 0.00741812 64976 475 0.00791851 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs72851220 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0057 0.0008 0 0 0.0182 0.0078 0.0050 0.0026 0.0016 0.0073 0.0012 0 0 0.0212 0.0086 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs72851220 rs72851220 rs72851220 1 1538 10 1/0 0,236,255 +rs72851220 17 76888319 G A - TIMP2 11821 TIMP metallopeptidase inhibitor 2 NM_003255.4 -1 3655 663 NP_003246.1 P16035 substitution intron GRCh37 76888319 76888319 Chr17(GRCh37):g.76888319G>A 131-18318 131-18318 NM_003255.4:c.131-18318C>T p.? p.? 2 1 188825 -18318 3' 89.1687 10.292 0.928786 XI.24 89.1687 10.292 0.928786 XI.24 0 Cryptic Donor Strongly Activated 76888321 67.3122 4.41481 0.171021 77.1596 rs72851220 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.007000 0.000000 0.005966 0.001499 0.000851 0.000000 0.000000 0.002567 0.007971 0.018743 0.005396 0.018743 1047 23 21 0 0 58 539 380 26 175492 15344 24686 8410 11748 22594 67618 20274 4818 0.000125 0.000000 0.000000 0.000000 0.000000 0.000000 0.000148 0.000592 0.000000 11 0 0 0 0 0 5 6 0 1025 23 21 0 0 58 529 368 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -3.426 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.007 0.001 ENSG00000178404:ENST00000322630:exon3:c.C267T:p.G89G . . . . 0.5 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.4706 . . . . . . . . 3.654e-03 . . . 0.0011 0.0032 0.0034 0 0.0395 0.0045 0 0.0025 0 0.0047 0.0045 0 0.0186 0.0040 0 0.0025 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.35 0.31 182 ENSG00000178404 LOC100653515 CEP295NL . . . . . . 482 0.00741812 64976 475 0.00791851 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs72851220 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0057 0.0008 0 0 0.0182 0.0078 0.0050 0.0026 0.0016 0.0073 0.0012 0 0 0.0212 0.0086 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs72851220 rs72851220 rs72851220 1 1538 10 1/0 0,236,255 +rs140962076 17 77078356 C T - ENGASE 24622 Endo-beta-N-acetylglucosaminidase NM_001042573.2 1 4494 2232 NP_001036038.1 Q8NFI3 substitution intron GRCh37 77078356 77078356 Chr17(GRCh37):g.77078356C>T 1038+211 1038+211 NM_001042573.2:c.1038+211C>T p.? p.? 7 7 611898 211 5' 85.2503 8.22968 0.83792 XI.22 85.2503 8.22968 0.83792 XI.22 0 rs140962076 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.001500 0.000000 0.000000 0.006000 0.007200 0.003852 0.000468 0.004741 0.029169 0.000000 0.000514 0.003691 0.000320 0.007605 0.029169 567 7 110 191 0 10 214 3 32 147214 14968 23200 6548 11466 19468 57978 9378 4208 0.000041 0.000000 0.000086 0.000611 0.000000 0.000000 0.000000 0.000000 0.000000 3 0 1 2 0 0 0 0 0 561 7 108 187 0 10 214 3 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.125 255 PASS 0.002 0.0018 0.0028 . 0.0026 0.0015 0.0026 0.0072 . 0.006 . . . . . . 0.5233645 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||ENGASE|mRNA|CODING|NM_001042573|) . . . . . . . 0.5811 . . . . . . . . 1.837e-03 . . . 0.0036 0.0084 0.0120 0 0 0.0187 0.0204 0.0014 0 0.0084 0.0145 0 0 0.0298 0.0294 0.0014 . . . . . . UTR3 UTR5\x3bUTR3 intronic . . . 0.0026 . . . 0.19 0.34 182 ENSG00000167280 ENGASE\x3bENGASE ENGASE . . . . . . 237 0.0036475 64976 224 0.0037342 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140962076 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0042 0.0047 0.0293 0 0.0005 0.0035 0.0096 0.0005 0.0003 0.0025 0.0048 0.0265 0 0 0.0041 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs140962076 rs140962076 1 1538 10 1/0 0,255,255 +. 17 77086851 G GTT - RBFOX3 27097 RNA binding protein, fox-1 homolog 3 NM_001082575.2 -1 2990 939 NP_001076044.1 A6NFN3 duplication 3'UTR GRCh37 77086851 77086852 Chr17(GRCh37):g.77086852_77086853dup *112 *113 NM_001082575.2:c.*112_*113dup p.? p.? 15 616999 116 3' 84.276 X.85 0.677035 7.42414 84.276 X.85 0.677035 7.42414 0 0.000284 0.000607 0.001404 0.000000 0.000623 0.000000 0.000072 0.000000 0.000000 0.001404 8 5 1 0 1 0 1 0 0 28178 8240 712 280 1606 0 13882 2598 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 3 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes AA 255 Pass . . . . . . . . . . . . . . . . 0.45652175 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000167281 RBFOX3 RBFOX3 . uc010dhs.4:c.*113_*114insAA NM_001082575:c.*113_*114insAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0003 0.0014 0 0.0006 0 7.204e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +. 17 78064148 GAC G - CCDC40 26090 Coiled-coil domain containing 40 NM_017950.3 1 4298 3429 NP_060420.2 Q4G0X9 deletion intron GRCh37 78064149 78064150 Chr17(GRCh37):g.78064149_78064150del 2832+466 2832+467 NM_017950.3:c.2832+466_2832+467del p.? p.? 17 17 613799 466 5' 90.3122 9.15773 0.952303 XII.83 90.3122 9.15773 0.952303 XII.83 0 rs570440845 yes no Frequency/1000G 2 0.002596 - 13 0.002596 0.002300 0.001000 0.000000 0.006000 0.004300 0.003907 0.001298 0.003254 0.005309 0.000000 0.001786 0.006601 0.000251 0.003994 0.006601 580 16 79 43 0 40 383 2 17 148470 12322 24276 8100 11122 22398 58024 7972 4256 0.001401 0.000487 0.000577 0.001481 0.000000 0.000357 0.002757 0.000000 0.001880 104 3 7 6 0 4 80 0 4 372 10 65 31 0 32 223 2 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AC 255 Pass . . . . . 0.0023 0.0026 0.0043 . 0.006 0.001 ENSG00000141519:ENST00000374877:exon18:c.3044_3045del:p.D1015fs CCDC40:uc021uem.1:exon18:c.3044_3045del:p.D1015fs CCDC40:NM_001243342:exon18:c.3044_3045del:p.D1015fs . . 0.58536583 . . . 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 164 . . . . . . . . . . . . . . . . . . . 5.397e-03 . . . 0 0.0051 0.0164 0 . 0.0083 0.0086 0.0038 0 0.0047 0.0172 0 0 0.0072 0.0088 0.0038 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000141519 CCDC40 CCDC40 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs570440845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0041 0.0034 0.0053 0 0 0.0069 0.0048 0.0018 0.0011 0.0030 0 0.0048 0 0.0007 0.0055 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +rs5822325 17 78081529 G A - GAA 4065 Glucosidase alpha, acid NM_000152.4 1 3807 2859 NP_000143.2 P10253 substitution intron GRCh37 78081529 78081529 Chr17(GRCh37):g.78081529G>A 858+8 858+8 NM_000152.4:c.858+8G>A p.? p.? 4 4 606800 8 5' 62.8235 V.28 0.037906 XI.84 62.8235 V.28 0.047666 X.32 0.0858263 rs5822325 yes no Frequency 1 A benign 0.000000 0 0.005247 0.009141 0.001397 0.003622 0.007181 0.001571 0.006857 0.003074 0.004315 0.009141 1292 189 42 34 115 44 769 75 24 246246 20676 30066 9386 16014 28000 112144 24398 5562 0.001754 0.001935 0.000399 0.002344 0.000624 0.000500 0.002764 0.000902 0.000360 216 20 6 11 5 7 155 11 1 860 149 30 12 105 30 459 53 22 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes RCV000117108.4 germline|germline clinical testing|clinical testing Benign 2 not specified COSM5414173 Haematopoietic and lymphoid tissue 0.001416 3530 transition G A G>A 0.000 -0.037 224 PASS . . . . . . . . . . . . . . . . 0.2264151 . . germline 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000117108.4 not_specified MedGen CN169374 2 . . . 106.0 . . . . . . . . . . -0.0444 . . . . . . . . 9.174e-03 . . . 0.0084 0.0054 0.0014 0.0096 0.0044 0.0073 0.0063 0.0013 0.0080 0.0040 0.0011 0.0072 0.0027 0.0047 0.0015 0.0012 . . . . . . intronic intronic intronic . . . @ . . . 0.15 0.2 182 ENSG00000171298 GAA GAA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs5822325 0.011 0.007 . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000117108.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dmult\x3bCLNACC\x3dRCV000117108.3\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_multiple_submitters\x2c_no_conflicts\x3bCLNACC\x3dRCV000117108.3\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . 0 0.002 . . . . . . . 0.0153 0.0059 0.0014 0.0037 0.0078 0.0036 0.0078 0.0050 0.0016 0 0.0002 0.0012 0 0.0013 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . 0.011 rs28684874 rs28684874 rs28684874 rs28684874 1 1538 10 1/0 0,236,255 +rs41299328 17 78388947 G T - ENDOV 26640 Endonuclease V NM_001352760.1 1 1406 930 NP_001339689.1 substitution upstream GRCh37 78388947 78388947 Chr17(GRCh37):g.78388947G>T -48 -48 NM_001352760.1:c.-48G>T p.? p.? 1 -104 5' 73.3676 6.53385 0.539801 7.81639 73.3676 6.53385 0.539801 7.81639 0 rs41299328 yes no Frequency/1000G 2 G 0.000000 0 0.006190 0.000000 0.014300 0.000000 0.014900 0.002900 0.006316 0.000794 0.003904 0.003639 0.000000 0.008092 0.009612 0.001887 0.006907 0.009612 1678 18 131 36 0 240 1164 46 43 265676 22664 33554 9894 18198 29658 121102 24380 6226 0.000098 0.000000 0.000000 0.000000 0.000000 0.000405 0.000116 0.000000 0.000000 13 0 0 0 0 6 7 0 0 1652 18 131 36 0 228 1150 46 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8227 4051 12278 93 7 100 0.0111779 0.00172499 0.00807885 0.0111779 0.00172499 0.00807885 23 transversion G T G>T 0.000 -1.489 255 PASS . 0.0041 0.0028 . 0.01 . 0.0062 0.0029 . 0.015 0.014 . . . . . 0.42677826 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 239.0 . . . 0.0017 0.0081 0.011 0.0017 0.0081 0.011 . 0.8168 . . . . . . . . 5.920e-03 . . . 0.0014 0.0097 0.0052 0 0.0033 0.0146 0.0153 0.0090 0.0016 0.0093 0.0054 0 0.0039 0.0126 0.0142 0.0090 . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.0062 . . . 0.56 0.4 182 ENSG00000263069 LOC100294362 LOC100294362 . uc002jyi.2:c.-28C>A . . . . 465 0.00715649 64976 435 0.00725169 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41299328 . . . . . . . . . . . . . . . . . . . . . . . 0.008079 . . . . . 0.0007 0.0064 0.0039 0.0038 0 0.0018 0.0096 0.0069 0.0081 0.0009 0.0054 0.0036 0 0 0.0026 0.0094 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs41299328 rs41299328 rs41299328 rs41299328 1 1538 10 1/0 0,217,244 +rs200194139 17 78389460 C G - ENDOV 26640 Endonuclease V NM_001352760.1 1 1406 930 NP_001339689.1 substitution missense exon GRCh37 78389460 78389460 Chr17(GRCh37):g.78389460C>G 67 67 NM_001352760.1:c.67C>G p.Arg23Gly p.Arg23Gly 2 11 3' 85.1706 9.55328 0.972292 11.0109 85.1706 9.55328 0.981228 X.58 0.00306355 rs200194139 yes no Frequency/1000G 2 C 0.000000 0 0.000026 0.000000 0.000029 0.000099 0.000000 0.000000 0.000041 0.000000 0.000000 0.000099 7 0 1 1 0 0 5 0 0 271158 23528 34088 10056 18682 30270 122644 25534 6356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 1 1 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.472 0.609 R Arg CGG 0.207 G Gly GGG 0.250 23 12 8 Tetraodon -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 257.76 0.00 Deleterious 0.03 III.85 255 PASS . . . . . . . . . . . . . . . . 0.424 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.675 . . 125.0 . . . . . . . . . . -0.2212 -0.378 -0.221 c . . . . . 2.400e-05 . . . 0 4.292e-05 0.0001 0 0 5.981e-05 0 0 0 2.427e-05 0.0001 0 0 2.306e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.199 0.0002 . . . 0.66 0.3 182 ENSG00000173818 ENDOV ENDOV . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.300 . . . . D 0.612 0.044 . . 37 . 0.525 . . 0.569 . . . 0.859 0.364 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.765 . . 0 0 0 0 0 0 . 0.629 . . 0.577 . . . . . . 0 0.486 . . . . . 0.181 . 0.315 . HET 0.12 rs200194139 . . . . . . . . . . . . V.69 . . IV.32 I.17 . 0.130000 . . . . . . 0.177 . . . 0 2.498e-05 3.007e-05 0.0001 0 0 3.716e-05 0 0 0 3.229e-05 0 0 0 0 6.661e-05 0 . . 0.072 . -0.008 -0.008000 . . 0.130000 . . 1.0E-255 0.045 0.210 . 0.330 0.968 . 0.285 . 0.325 -0.008 0.871 . . . . . 1 1538 10 1/0 0,244,255 +rs8081830 17 79093137 G A - AATK 21 Apoptosis-associated tyrosine kinase NM_001080395.2 -1 5312 4125 NP_001073864.2 Q6ZMQ8 substitution intron GRCh37 79093137 79093137 Chr17(GRCh37):g.79093137G>A 4084+43 4084+43 NM_001080395.2:c.4084+43C>T p.? p.? 13 13 605276 43 5' 87.5642 8.40856 0.988451 15.9271 87.5642 8.40856 0.988451 16.0001 0 rs8081830 yes no Frequency 1 G 0.000000 0 0.004670 0.005032 0.000489 0.106996 0.001515 0.005460 0.002053 0.000976 0.001748 0.106996 94 11 3 52 1 12 12 2 1 20128 2186 6130 486 660 2198 5846 2050 572 0.000199 0.000000 0.000000 0.008230 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 0 2 0 0 0 0 0 90 11 3 48 1 12 12 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.198 227 PASS . . . . . . . . . . . . . . . . 0.23728813 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.7068 . . . . . . . . 1.775e-03 . . . 0.0152 0.0190 0 0 0 0.0507 0 0.0125 0.01 0.0152 0 0 0 0.0326 0 0.0125 . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.41 182 ENSG00000181409 AATK AATK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs8081830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0059 0.0005 0.1129 0.0023 0.0024 0.0033 0.0033 0.0055 0.0053 0.0022 0 0.0577 0 0 0.0007 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs8081830 rs8081830 rs8081830 rs8081830 1 1538 10 1/0 0,255,255 +rs8081830 17 79093137 G A - BAIAP2 947 BAI1-associated protein 2 NM_017451.2 1 2894 1659 NP_059345.1 Q9UQB8 substitution downstream GRCh37 79093137 79093137 Chr17(GRCh37):g.79093137G>A *3032 *3032 NM_017451.2:c.*3032G>A p.? p.? 15 605475 3108 3' 87.2759 5.67573 0.342682 VIII.92 87.2759 5.67573 0.342682 VIII.92 0 rs8081830 yes no Frequency 1 G 0.000000 0 0.004670 0.005032 0.000489 0.106996 0.001515 0.005460 0.002053 0.000976 0.001748 0.106996 94 11 3 52 1 12 12 2 1 20128 2186 6130 486 660 2198 5846 2050 572 0.000199 0.000000 0.000000 0.008230 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 0 2 0 0 0 0 0 90 11 3 48 1 12 12 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.198 227 PASS . . . . . . . . . . . . . . . . 0.23728813 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.7068 . . . . . . . . 1.775e-03 . . . 0.0152 0.0190 0 0 0 0.0507 0 0.0125 0.01 0.0152 0 0 0 0.0326 0 0.0125 . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.41 182 ENSG00000181409 AATK AATK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs8081830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0059 0.0005 0.1129 0.0023 0.0024 0.0033 0.0033 0.0055 0.0053 0.0022 0 0.0577 0 0 0.0007 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs8081830 rs8081830 rs8081830 rs8081830 1 1538 10 1/0 0,255,255 +rs8064471 17 79093142 C T - AATK 21 Apoptosis-associated tyrosine kinase NM_001080395.2 -1 5312 4125 NP_001073864.2 Q6ZMQ8 substitution intron GRCh37 79093142 79093142 Chr17(GRCh37):g.79093142C>T 4084+38 4084+38 NM_001080395.2:c.4084+38G>A p.? p.? 13 13 605276 38 5' 87.5642 8.40856 0.988451 15.9271 87.5642 8.40856 0.988451 15.2724 0 rs8064471 yes no Frequency/1000G 2 C 0.000000 0 0.542332 0.554500 0.545000 0.571400 0.559600 0.448100 0.001191 0.001362 0.000445 0.012541 0.000574 0.001014 0.000614 0.000129 0.000410 0.012541 101 13 6 46 2 12 20 1 1 84770 9548 13488 3668 3482 11840 32550 7756 2438 0.000071 0.000000 0.000000 0.001091 0.000000 0.000000 0.000061 0.000000 0.000000 3 0 0 2 0 0 1 0 0 35 6 5 6 2 5 9 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.044 249 PASS . . . . . 0.55 0.54 0.45 0.57 0.56 0.55 . . . . . 0.3043478 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.4120 . . . . . . . . 1.371e-03 . . . 0.0039 0.0023 0 0 0 0.0040 0.0085 0.0010 0.0033 0.0018 0 0 0 0.0029 0.0093 0.0010 . . . . . . intronic intronic intronic . . . 0.4577 . . . 0.26 0.4 182 ENSG00000181409 AATK AATK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs8064471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0016 0.0005 0.0128 0.0011 0.0002 0.0010 0.0007 0.0010 0.0012 0.0005 0 0.0101 0 0 0.0001 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . rs8064471 rs8064471 rs8064471 rs8064471 1 1538 10 1/0 0,255,255 +rs8064471 17 79093142 C T - BAIAP2 947 BAI1-associated protein 2 NM_017451.2 1 2894 1659 NP_059345.1 Q9UQB8 substitution downstream GRCh37 79093142 79093142 Chr17(GRCh37):g.79093142C>T *3037 *3037 NM_017451.2:c.*3037C>T p.? p.? 15 605475 3113 3' 87.2759 5.67573 0.342682 VIII.92 87.2759 5.67573 0.342682 VIII.92 0 rs8064471 yes no Frequency/1000G 2 C 0.000000 0 0.542332 0.554500 0.545000 0.571400 0.559600 0.448100 0.001191 0.001362 0.000445 0.012541 0.000574 0.001014 0.000614 0.000129 0.000410 0.012541 101 13 6 46 2 12 20 1 1 84770 9548 13488 3668 3482 11840 32550 7756 2438 0.000071 0.000000 0.000000 0.001091 0.000000 0.000000 0.000061 0.000000 0.000000 3 0 0 2 0 0 1 0 0 35 6 5 6 2 5 9 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.044 249 PASS . . . . . 0.55 0.54 0.45 0.57 0.56 0.55 . . . . . 0.3043478 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.4120 . . . . . . . . 1.371e-03 . . . 0.0039 0.0023 0 0 0 0.0040 0.0085 0.0010 0.0033 0.0018 0 0 0 0.0029 0.0093 0.0010 . . . . . . intronic intronic intronic . . . 0.4577 . . . 0.26 0.4 182 ENSG00000181409 AATK AATK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs8064471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0016 0.0005 0.0128 0.0011 0.0002 0.0010 0.0007 0.0010 0.0012 0.0005 0 0.0101 0 0 0.0001 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . rs8064471 rs8064471 rs8064471 rs8064471 1 1538 10 1/0 0,255,255 +rs374207758 (chr17:79390345 G/A) 17 79390345 G A Not on a known gene +rs368255999 (chr17:79390349 A/C) 17 79390349 A C Not on a known gene +rs192074123 (chr17:79390404 G/A) 17 79390404 G A Not on a known gene +rs371226965 17 79418965 C T - MIR3186 38311 MicroRNA 3186 NR_036152.1 -1 85 0 substitution upstream GRCh37 79418965 79418965 Chr17(GRCh37):g.79418965C>T -751 -751 NR_036152.1:n.-751G>A p.? p.? 1 rs371226965 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000356 0.000000 0.000000 0.000000 0.000000 0.002037 0.000336 0.000168 0.000697 0.002037 36 0 0 0 0 18 15 1 2 101154 13906 13634 2686 8572 8836 44680 5970 2870 0.000040 0.000000 0.000000 0.000000 0.000000 0.000453 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 32 0 0 0 0 14 15 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7803 3572 11375 1 0 1 0.000128139 0 8.79044e-05 0.000128139 0 8.79044e-05 6 transition G A G>A 0.000 -0.602 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.55263156 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.1409 . . . . . . . . 2.142e-04 . . . 0 0.0008 0 0 0 0.0004 0 0.0042 0 0.0009 0 0 0 0.0004 0 0.0042 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.17 0.32 182 ENSG00000171282 BAHCC1 BAHCC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371226965 . . . . . . . . . . . . . . . . . . . . . . . 0.000088 . . . . . 0 0.0004 0 0 0 0.0004 0.0003 0.0011 0.0020 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs371226965 rs371226965 1 1538 10 1/0 0,255,255 +rs34675304 17 79683997 T G - SLC25A10 10980 "Solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10" NM_001270953.1 1 1911 1221 NP_001257882.1 substitution intron GRCh37 79683997 79683997 Chr17(GRCh37):g.79683997T>G 464-35 464-35 NM_001270953.1:c.464-35T>G p.? p.? 7 6 606794 -35 3' 86.0246 10.0537 0.828084 9.45156 86.0246 10.0537 0.828084 9.35558 0 rs34675304 yes no Frequency/1000G 2 T 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000068 1 0 0 0 0 0 1 0 0 30506 8564 832 296 1610 0 14764 3474 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 48 Genomes transversion T G T>G 0.000 -1.732 231 PASS 0.3 0.2 0.25 0.08 0.21 . . . . . . . . . . . 0.24637681 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . . . . . . . . . -0.6065 . . . . . . . . 2.875e-04 . . . 0.0002 0.0004 0.0001 0 0 5.355e-05 0 0.0016 0.0003 0.0003 0.0001 0 0 8.2e-05 0 0.0016 . . . . . . intronic intronic intronic . . . @ . . . 0.15 0.07 182 . SLC25A10 SLC25A10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34675304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.278e-05 0 0 0 0 6.773e-05 0 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . 0.3 rs34675304 rs34675304 rs34675304 rs34675304 1 1538 10 1/0 0,226,255 +rs62077220 17 79684009 T G - SLC25A10 10980 "Solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10" NM_001270953.1 1 1911 1221 NP_001257882.1 substitution intron GRCh37 79684009 79684009 Chr17(GRCh37):g.79684009T>G 464-23 464-23 NM_001270953.1:c.464-23T>G p.? p.? 7 6 606794 -23 3' 86.0246 10.0537 0.828084 9.45156 86.0246 10.0537 0.828084 8.09801 0 rs62077220 yes no Frequency/1000G 2 T 0.000000 0 0.000610 0.000415 0.000161 0.000318 0.005019 0.000479 0.000242 0.000204 0.000000 0.005019 156 9 5 3 92 14 28 5 0 255896 21698 31022 9436 18332 29214 115644 24498 6052 0.000008 0.000000 0.000000 0.000000 0.000109 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 154 9 5 3 90 14 28 5 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.360 197 PASS 0.12 0.11 0.15 0.06 0.13 . . . . . . . . . . . 0.15267175 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . -0.2624 . . . . . . . . 9.033e-04 . . . 0.0007 0.0008 0.0007 0.0044 0 0.0005 0 0.0004 0.0007 0.0009 0.0008 0.0054 0.0002 0.0004 0.0018 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.23 0.12 182 . SLC25A10 SLC25A10 . . . . . . 2612 0.0401995 64976 2196 0.0366085 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62077220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0007 0.0002 0.0003 0.0050 0.0002 0.0003 0 0.0005 0 0.0003 0 0 0.0050 0 6.735e-05 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.15 rs62077220 rs62077220 rs62077220 rs62077220 1 1538 10 1/0 0,219,255 +rs144193916 17 79966960 C T - ASPSCR1 13825 Alveolar soft part sarcoma chromosome region, candidate 1 NM_001251888.1 1 2125 1944 NP_001238817.1 substitution synonymous exon GRCh37 79966960 79966960 Chr17(GRCh37):g.79966960C>T 981 981 NM_001251888.1:c.981C>T p.Pro327= p.Pro327Pro 8 606236 48 3' 80.569 8.99966 0.526037 8.21699 80.569 8.99966 0.526037 7.84629 0 rs144193916 yes no Frequency 1 C 0.000000 0 0.001294 0.000470 0.000343 0.000000 0.000000 0.000305 0.001773 0.003827 0.001647 0.003827 288 9 10 0 0 8 173 79 9 222484 19154 29174 9140 15136 26216 97556 20644 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 288 9 10 0 0 8 173 79 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8563 4353 12916 9 1 10 0.00104993 0.000229674 0.000773635 0.00104993 0.000229674 0.000773635 23 transition C T C>T 0.047 -2.539 P Pro CCC 0.328 P Pro CCT 0.283 327 255 PASS . . . . . . . . . . . ENSG00000169696:ENST00000583503:exon5:c.C422T:p.P141L . . . . 0.5316456 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 79.0 . . . 0.0002 0.0008 0.001 0.0002 0.0008 0.001 . 0.1739 . . . . . . . . 1.062e-03 . . . 0.0009 0.0017 0.0008 0 0.0189 0.0031 0 0.0002 0.0007 0.0025 0.0008 0 0.0161 0.0048 0.0056 0.0002 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.29 182 ENSG00000169696 ASPSCR1 ASPSCR1 . . . . . . 83 0.00127739 64976 83 0.00138366 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144193916 . . . . . . . . . . . . . . . . . . . . . . . 0.000774 . . . . . 0.0006 0.0012 0.0004 0 0 0.0037 0.0017 0.0018 0.0003 0.0003 0.0017 0 0 0 0.0043 0.0023 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.001 . . rs144193916 rs144193916 1 1538 10 1/0 0,255,255 +. 17 79995490 C CGT - DCXR 18985 Dicarbonyl/L-xylulose reductase NM_016286.3 -1 829 735 NP_057370.1 Q7Z4W1 insertion intron GRCh37 79995490 79995491 Chr17(GRCh37):g.79995490_79995491insGT 52+16 52+17 NM_016286.3:c.52+16_52+17insAC p.? p.? 1 1 608347 16 5' 79.4718 7.92601 0.737477 XI.05 79.4718 7.92601 0.737477 X.92 0 AC 255 Pass . . . . . . . . . . . ENSG00000169738:ENST00000579155:exon1:c.68_69insAC:p.K23fs . . . . 0.5945946 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000169738 DCXR DCXR . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +rs376038243 17 80159734 G C - CCDC57 27564 Coiled-coil domain containing 57 NM_198082.3 -1 3078 2748 NP_932348.2 substitution synonymous exon GRCh37 80159734 80159734 Chr17(GRCh37):g.80159734G>C 87 87 NM_198082.3:c.87C>G p.Thr29= p.Thr29Thr 2 95 3' 87.7357 8.95263 0.908593 12.1213 87.7357 8.95263 0.908593 12.1213 0 Cryptic Acceptor Strongly Activated 80159730 0.000301 64.1367 0.850825 0.000471 64.1367 rs376038243 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002048 0.000379 0.000698 0.000793 0.000000 0.000000 0.003583 0.002369 0.002024 0.003583 563 9 24 8 0 0 448 61 13 274874 23732 34364 10082 18796 30704 125018 25754 6424 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000078 0.000000 2 0 0 0 0 0 1 1 0 559 9 24 8 0 0 446 59 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8455 4247 12702 29 1 30 0.0034182 0.000235405 0.00235627 0.0034182 0.000235405 0.00235627 27 transversion C G C>G 0.134 0.125 T Thr ACC 0.361 T Thr ACG 0.116 29 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.48958334 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . 0.0002 0.0024 0.0034 0.0002 0.0024 0.0034 . 0.3722 . . . . . . . . 1.954e-03 . . . 0.0006 0.0016 0.0005 0 0.0024 0.0030 0.0030 0 0.0005 0.0019 0.0005 0 0.0023 0.0032 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.24 0.28 182 ENSG00000176155 CCDC57 CCDC57 . . . . . . 150 0.00230854 64976 149 0.00248391 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376038243 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.002356 . . . . . 0.0005 0.0021 0.0007 0.0006 0 0.0025 0.0037 0.0022 0 0.0002 0.0018 0.0012 0.0066 0 0.0014 0.003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs376038243 rs376038243 1 1538 10 1/0 0,255,255 +rs373585858 17 80394556 G A - HEXDC 26307 Hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing NM_173620.2 1 2222 1758 NP_775891.2 substitution synonymous exon GRCh37 80394556 80394556 Chr17(GRCh37):g.80394556G>A 645 645 NM_173620.2:c.645G>A p.Pro215= p.Pro215Pro 7 616864 14 3' 82.0796 X.61 0.655274 XII.02 82.0796 X.61 0.667838 XI.37 0.00639122 rs373585858 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.001724 0.000385 0.000147 0.000100 0.000000 0.001024 0.002664 0.003461 0.001270 0.003461 466 9 5 1 0 31 330 82 8 270334 23394 34090 9996 18706 30278 123878 23692 6300 0.000022 0.000000 0.000000 0.000000 0.000000 0.000198 0.000000 0.000000 0.000000 3 0 0 0 0 3 0 0 0 460 9 5 1 0 25 330 82 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8534 4284 12818 8 2 10 0.000936549 0.000466636 0.000779545 0.000936549 0.000466636 0.000779545 65 transition G A G>A 0.591 -1.328 P Pro CCG 0.115 P Pro CCA 0.274 215 255 PASS . . . . . . 0.0004 . . 0.001 0.001 . . HEXDC:NM_173620:exon7:c.G645A:p.P215P . . 0.3951613 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P215|HEXDC|mRNA|CODING|NM_173620|NM_173620.ex.7) 0.0005 0.0008 0.0009 0.0005 0.0008 0.0009 . 0.6580 . . . . . . . . 2.042e-03 . . . 0.0008 0.0013 0 0 0.0049 0.0017 0.0018 0.0013 0.0006 0.0024 0 0 0.0039 0.0037 0.0019 0.0013 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.36 0.74 182 ENSG00000169660 HEXDC HEXDC . . . . . . 76 0.00116966 64976 74 0.00123362 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373585858 . . . . . . . . . . . . . . . . . . . . . . . 0.000780 . . . . . 0.0004 0.0017 0.0002 0.0001 0 0.0035 0.0026 0.0011 0.0010 0.0003 0.0019 0 0 0 0.0034 0.0028 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs373585858 rs373585858 1 1538 10 1/0 0,243,255 +rs538937116 17 80403732 C T - C17orf62 28672 Chromosome 17 open reading frame 62 NM_001033046.3 -1 2152 564 NP_001028218.1 Q9BQA9 substitution intron GRCh37 80403732 80403732 Chr17(GRCh37):g.80403732C>T 298+8 298+8 NM_001033046.3:c.298+8G>A p.? p.? 5 5 8 5' 86.3702 9.25272 0.990021 6.63104 86.3702 9.25272 0.993216 7.35664 0.00107573 rs538937116 yes no Frequency 1 C 0.000000 0 0.000084 0.000000 0.000152 0.000000 0.000055 0.000102 0.000101 0.000000 0.000162 0.000152 22 0 5 0 1 3 12 0 1 262232 22332 32828 9652 18232 29400 119328 24276 6184 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 5 0 1 3 12 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.440 255 PASS . . . . . . . . . . . . C17orf62:uc010dis.2:exon5:c.G306A:p.S102S . . . 0.50769234 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . 0.0636 . . . . . . . . 5.537e-05 . . . 0 0.0001 0.0003 0 0 0.0002 0 0.0001 0 8.395e-05 0.0003 0.0002 0 4.295e-05 0 0.0001 . synonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000178927 C17orf62 C17orf62 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs538937116 . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . 0 8.647e-05 0.0002 0 6.02e-05 0 9.584e-05 0.0002 0.0001 0 6.463e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs762919740 17 80724190 C T - TBCD 11581 Tubulin folding cofactor D NM_005993.4 1 4432 3579 NP_005984.3 Q9BTW9 substitution synonymous exon GRCh37 80724190 80724190 Chr17(GRCh37):g.80724190C>T 381 381 NM_005993.4:c.381C>T p.Ala127= p.Ala127Ala 4 604649 48 3' 88.8687 7.37226 0.995074 2.36907 88.8687 7.37226 0.995074 1.99838 0 rs762919740 yes no Frequency 1 T 0.000000 0 0.000016 0.000000 0.000060 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000060 4 0 2 0 0 0 2 0 0 245342 15196 33486 9820 17210 30564 111332 22276 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transition C T C>T 0.976 -0.198 A Ala GCC 0.403 A Ala GCT 0.263 127 255 PASS . . . . . . . . . . . . . TBCD:NM_005993:exon4:c.C381T:p.A127A . . 0.35714287 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 28.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A127|TBCD|mRNA|CODING|NM_005993|NM_005993.ex.4) . . . . . . . 0.1273 . . . . . . . . 3.197e-05 . . . 0 5.204e-05 0.0002 0 0 5.496e-05 0 0 0 2.238e-05 0.0002 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000141556 TBCD TBCD . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762919740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.63e-05 5.973e-05 0 0 0 1.796e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs868824426 (chr17:81081897 C/T) 17 81081897 C T Not on a known gene +rs368698678 (chr17:81081923 G/A) 17 81081923 G A Not on a known gene +rs866363505 (chr17:81082158 A/G) 17 81082158 A G Not on a known gene +rs866644968 (chr17:81082159 G/C) 17 81082159 G C Not on a known gene +rs796620368 (chr17:81082312 A/G) 17 81082312 A G Not on a known gene +rs866009080 (chr17:81082575 G/C) 17 81082575 G C Not on a known gene +rs879010887 (chr17:81082833 A/T) 17 81082833 A T Not on a known gene +rs879003927 (chr17:81082847 C/G) 17 81082847 C G Not on a known gene +rs367638315 (chr17:81082947 A/G) 17 81082947 A G Not on a known gene +rs373468120 (chr17:81083067 A/G) 17 81083067 A G Not on a known gene +rs796810373 (chr17:81083094 A/G) 17 81083094 A G Not on a known gene +rs376713232 (chr17:81083095 G/C) 17 81083095 G C Not on a known gene +. (chr17:81083103 A/G) 17 81083103 A G Not on a known gene +. (chr17:81083111 G/A) 17 81083111 G A Not on a known gene +rs867024879 (chr17:81083119 G/A) 17 81083119 G A Not on a known gene +rs192956572 (chr17:81083139 G/A) 17 81083139 G A Not on a known gene +rs878899263 (chr17:81083198 G/T) 17 81083198 G T Not on a known gene +rs865857294 (chr17:81083211 G/A) 17 81083211 G A Not on a known gene +rs28496825 (chr17:81083295 G/A) 17 81083295 G A Not on a known gene +rs28375063 (chr17:81083311 A/G) 17 81083311 A G Not on a known gene +rs187170715 17 81187935 G A - RPL23AP87 51578 Ribosomal protein L23a pseudogene 87 NR_029406.1 1 2256 0 substitution exon GRCh37 81187935 81187935 Chr17(GRCh37):g.81187935G>A 1618 1618 NR_029406.1:n.1618G>A 4 243 3' 74.5452 5.06609 0.532422 0 74.5452 5.06609 0.532422 0 0 rs187170715 yes no Frequency/1000G 2 0.000000 0 0.000043 0.000000 0.000229 0.000123 0.000000 0.000000 0.000020 0.000080 0.000000 0.000229 8 0 4 1 0 0 2 1 0 184864 8694 17504 8104 13188 21926 98174 12560 4714 0.000022 0.000000 0.000229 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 4 0 0 1 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 1.255 111 PASS 0.07 0.03 0.02 0.03 0.02 . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 8.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A540T|RPL23AP87|Non-coding_transcript|NON_CODING|NR_029406|NR_029406.ex.4) . . . . . . . -0.9182 . . . . . . . . 3.347e-05 . . . 0 5.41e-05 0.0004 0 0 3.482e-05 0 0 0 4.231e-05 0.0004 0 0 2.45e-05 0 0 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.17 182 ENSG00000232938 FLJ43681 RPL23AP87 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 rs187170715 . . . . . . . 0.034340659340659344 0.06707317073170732 0.024861878453038673 0.02972027972027972 0.021108179419525065 III.24 . ENST00000425566 0.109 0.109 . . . . . . . . . . . . 0 3.018e-05 0.0002 0 0 0 1.15e-05 0 0 0 0.0002 0 0.0046 0 0.0004 8.913e-05 0 . . . . -1.409 -1.409000 . . . . . 1.0E-111 . . . . . . . . . -1.409 . 0.07 . . rs3957343 rs187170715 1 1538 255 1.I 0,0,255 +rs376415183 18 112189 G A - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution downstream GRCh37 112189 112189 Chr18(GRCh37):g.112189G>A *67 *67 NR_107045.1:n.*67C>T p.? p.? 1 rs376415183 no no 0 0.000000 0 0.008456 0.007843 0.020270 0.006250 0.035156 0.000000 0.006320 0.026316 0.000000 0.035156 77 16 3 1 9 0 37 11 0 9106 2040 148 160 256 0 5854 418 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 16 3 1 9 0 37 11 0 0 0 0 0 0 0 0 0 0 RF 1237 Genomes transition C T C>T 0.000 -14.080 127 PASS . . . . . . . . . . . . . . . . 0.112068966 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 348.0 . . . . . . . . . . 0.5275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs376415183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0078 0.0085 0.0203 0.0063 0.0352 0.0263 0.0063 0 . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . rs376415183 rs376415183 1 1538 14 1/0 0,176,255 +rs376415183 18 112189 G A - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112189 112189 Chr18(GRCh37):g.112189G>A 389+2736 389+2736 NR_033770.1:n.389+2736G>A p.? p.? 1 1 2736 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 rs376415183 no no 0 0.000000 0 0.008456 0.007843 0.020270 0.006250 0.035156 0.000000 0.006320 0.026316 0.000000 0.035156 77 16 3 1 9 0 37 11 0 9106 2040 148 160 256 0 5854 418 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 16 3 1 9 0 37 11 0 0 0 0 0 0 0 0 0 0 RF 1237 Genomes transition G A G>A 0.000 -14.080 127 PASS . . . . . . . . . . . . . . . . 0.112068966 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 348.0 . . . . . . . . . . 0.5275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs376415183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0078 0.0085 0.0203 0.0063 0.0352 0.0263 0.0063 0 . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . rs376415183 rs376415183 1 1538 14 1/0 0,176,255 +rs796264817 18 112195 C A - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution downstream GRCh37 112195 112195 Chr18(GRCh37):g.112195C>A *61 *61 NR_107045.1:n.*61G>T p.? p.? 1 rs796264817 no no 0 0.000000 0 0.004327 0.006203 0.003704 0.000000 0.015086 0.000000 0.002558 0.005365 0.008108 0.015086 54 20 1 0 7 0 18 5 3 12480 3224 270 184 464 0 7036 932 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 20 1 0 7 0 18 5 3 0 0 0 0 0 0 0 0 0 RF 668 Genomes transversion G T G>T 0.000 -14.080 131 PASS . . . . . . . . . . . . . . . . 0.1143617 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 376.0 . . . . . . . . . . 0.5068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0062 0.0043 0.0037 0 0.0151 0.0054 0.0026 0.0081 . . . . . . . . . . . 1.0E-131 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,173,255 +rs796264817 18 112195 C A - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112195 112195 Chr18(GRCh37):g.112195C>A 389+2742 389+2742 NR_033770.1:n.389+2742C>A p.? p.? 1 1 2742 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 rs796264817 no no 0 0.000000 0 0.004327 0.006203 0.003704 0.000000 0.015086 0.000000 0.002558 0.005365 0.008108 0.015086 54 20 1 0 7 0 18 5 3 12480 3224 270 184 464 0 7036 932 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 20 1 0 7 0 18 5 3 0 0 0 0 0 0 0 0 0 RF 668 Genomes transversion C A C>A 0.000 -14.080 131 PASS . . . . . . . . . . . . . . . . 0.1143617 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 376.0 . . . . . . . . . . 0.5068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0062 0.0043 0.0037 0 0.0151 0.0054 0.0026 0.0081 . . . . . . . . . . . 1.0E-131 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,173,255 +rs759426987 18 112229 G T - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution downstream GRCh37 112229 112229 Chr18(GRCh37):g.112229G>T *27 *27 NR_107045.1:n.*27C>A p.? p.? 1 rs759426987 yes no Frequency 1 0.000000 0 0.005860 0.004631 0.002928 0.008915 0.005591 0.008635 0.005037 0.012201 0.006691 0.012201 519 34 43 46 30 116 179 53 18 88560 7342 14684 5160 5366 13434 35540 4344 2690 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 519 34 43 46 30 116 179 53 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -14.080 135 PASS . . . . . . . . . . . . . . . . 0.10405644 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 567.0 . . . . . . . . . . 0.5366 . . . . . . . . 4.622e-03 . . . 0.0215 0.0141 0 0 0 0.0124 0.0132 0.0151 0.0222 0.0144 0 0.0128 0 0.0131 0.0132 0.0151 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs759426987 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0056 0.0026 0.0089 0.0011 0.0109 0.0055 0.0072 0.0086 0.0069 0.0072 0.0174 0.0084 0.0386 0.0155 0.0036 0.0042 . . . . . . . . . . . 1.0E-135 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,153,255 +rs759426987 18 112229 G T - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112229 112229 Chr18(GRCh37):g.112229G>T 389+2776 389+2776 NR_033770.1:n.389+2776G>T p.? p.? 1 1 2776 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 Cryptic Acceptor Strongly Activated 112239 0.000881 68.7259 1.50853 0.005658 74.6594 rs759426987 yes no Frequency 1 0.000000 0 0.005860 0.004631 0.002928 0.008915 0.005591 0.008635 0.005037 0.012201 0.006691 0.012201 519 34 43 46 30 116 179 53 18 88560 7342 14684 5160 5366 13434 35540 4344 2690 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 519 34 43 46 30 116 179 53 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -14.080 135 PASS . . . . . . . . . . . . . . . . 0.10405644 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 567.0 . . . . . . . . . . 0.5366 . . . . . . . . 4.622e-03 . . . 0.0215 0.0141 0 0 0 0.0124 0.0132 0.0151 0.0222 0.0144 0 0.0128 0 0.0131 0.0132 0.0151 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs759426987 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0056 0.0026 0.0089 0.0011 0.0109 0.0055 0.0072 0.0086 0.0069 0.0072 0.0174 0.0084 0.0386 0.0155 0.0036 0.0042 . . . . . . . . . . . 1.0E-135 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,153,255 +rs752826038 18 112328 G T - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution exon GRCh37 112328 112328 Chr18(GRCh37):g.112328G>T 12 12 NR_107045.1:n.12C>A 1 rs752826038 yes no Frequency 1 0.000000 0 0.001408 0.000468 0.000000 0.004769 0.000582 0.001603 0.002171 0.003817 0.001282 0.004769 35 1 0 6 1 8 16 2 1 24864 2138 6084 1258 1718 4992 7370 524 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 1 0 6 1 8 16 2 1 0 0 0 0 0 0 0 0 0 RF 86 Exomes transversion C A C>A 0.000 -14.080 148 PASS . . . . . . . . . . . . . . . . 0.104417674 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 498.0 . . . . . . . . . . 0.0382 . . . . . . . . 2.391e-04 . . . 0 0.0040 0 0 . 0.0055 0 0.0029 0 0.0040 0 0 . 0.0055 0 0.0029 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_exonic . . . @ . . . 0.44 0.34 182 ENSG00000263006 ROCK1P1 MIR8078 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0014 0 0.0048 0.0006 0.0038 0.0022 0.0013 0.0016 . . . . . . . . . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,159,255 +rs752826038 18 112328 G T - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112328 112328 Chr18(GRCh37):g.112328G>T 389+2875 389+2875 NR_033770.1:n.389+2875G>T p.? p.? 1 1 2875 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 New Donor Site 112326 0.404739 0.008709 64.7876 rs752826038 yes no Frequency 1 0.000000 0 0.001408 0.000468 0.000000 0.004769 0.000582 0.001603 0.002171 0.003817 0.001282 0.004769 35 1 0 6 1 8 16 2 1 24864 2138 6084 1258 1718 4992 7370 524 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 1 0 6 1 8 16 2 1 0 0 0 0 0 0 0 0 0 RF 86 Exomes transversion G T G>T 0.000 -14.080 148 PASS . . . . . . . . . . . . . . . . 0.104417674 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 498.0 . . . . . . . . . . 0.0382 . . . . . . . . 2.391e-04 . . . 0 0.0040 0 0 . 0.0055 0 0.0029 0 0.0040 0 0 . 0.0055 0 0.0029 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_exonic . . . @ . . . 0.44 0.34 182 ENSG00000263006 ROCK1P1 MIR8078 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0014 0 0.0048 0.0006 0.0038 0.0022 0.0013 0.0016 . . . . . . . . . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,159,255 +rs79260101 18 112336 C G - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution exon GRCh37 112336 112336 Chr18(GRCh37):g.112336C>G 4 4 NR_107045.1:n.4G>C 1 rs79260101 yes no Frequency 1 0.000000 0 0.001941 0.000000 0.003193 0.002660 0.002717 0.002214 0.001355 0.000000 0.000000 0.003193 22 0 10 1 2 5 4 0 0 11334 1386 3132 376 736 2258 2952 146 348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 10 1 2 5 4 0 0 0 0 0 0 0 0 0 0 0 RF 112 Exomes transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.80451125 . . @ 321 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 399.0 . . . . . . . . . . 0.0299 . . . . . . . . 6.104e-04 . . . . 0.0357 . . . 0 . 0.1 . 0.0333 . . . 0 . 0.1 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_exonic . . . @ . . . 0.42 0.33 182 ENSG00000263006 ROCK1P1 MIR8078 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs149205930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0019 0.0032 0.0027 0.0027 0 0.0014 0 0.0022 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149205930 rs149205930 1 1538 16 1/0 0,209,208 +rs79260101 18 112336 C G - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112336 112336 Chr18(GRCh37):g.112336C>G 389+2883 389+2883 NR_033770.1:n.389+2883C>G p.? p.? 1 1 2883 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 rs79260101 yes no Frequency 1 0.000000 0 0.001941 0.000000 0.003193 0.002660 0.002717 0.002214 0.001355 0.000000 0.000000 0.003193 22 0 10 1 2 5 4 0 0 11334 1386 3132 376 736 2258 2952 146 348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 10 1 2 5 4 0 0 0 0 0 0 0 0 0 0 0 RF 112 Exomes transversion C G C>G 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.80451125 . . @ 321 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 399.0 . . . . . . . . . . 0.0299 . . . . . . . . 6.104e-04 . . . . 0.0357 . . . 0 . 0.1 . 0.0333 . . . 0 . 0.1 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_exonic . . . @ . . . 0.42 0.33 182 ENSG00000263006 ROCK1P1 MIR8078 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs149205930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0019 0.0032 0.0027 0.0027 0 0.0014 0 0.0022 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149205930 rs149205930 1 1538 16 1/0 0,209,208 +rs766179366 18 112344 C T - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution upstream GRCh37 112344 112344 Chr18(GRCh37):g.112344C>T -5 -5 NR_107045.1:n.-5G>A p.? p.? 1 rs766179366 yes no Frequency 1 0.000000 0 0.000191 0.000000 0.000000 0.001524 0.000000 0.000482 0.000000 0.000000 0.000000 0.001524 2 0 0 1 0 1 0 0 0 10478 1194 2464 656 454 2076 3036 258 340 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 125 Exomes transition G A G>A 0.000 -14.080 150 PASS . . . . . . . . . . . . . . . . 0.13625304 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 411.0 . . . . . . . . . . 0.0277 . . . . . . . . 1.092e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs766179366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0.0015 0 0 0 0 0.0005 . . . . . . . . . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs766179366 18 112344 C T - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112344 112344 Chr18(GRCh37):g.112344C>T 389+2891 389+2891 NR_033770.1:n.389+2891C>T p.? p.? 1 1 2891 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 Cryptic Acceptor Strongly Activated 112357 0.323965 0.483635 66.1492 1.34414 0.709122 69.2649 rs766179366 yes no Frequency 1 0.000000 0 0.000191 0.000000 0.000000 0.001524 0.000000 0.000482 0.000000 0.000000 0.000000 0.001524 2 0 0 1 0 1 0 0 0 10478 1194 2464 656 454 2076 3036 258 340 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 125 Exomes transition C T C>T 0.000 -14.080 150 PASS . . . . . . . . . . . . . . . . 0.13625304 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 411.0 . . . . . . . . . . 0.0277 . . . . . . . . 1.092e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs766179366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0.0015 0 0 0 0 0.0005 . . . . . . . . . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs778560479 18 662402 G A - TYMS 12441 Thymidylate synthetase NM_001071.2 1 1583 942 NP_001062.1 P04818 substitution intron GRCh37 662402 662402 Chr18(GRCh37):g.662402G>A 454+82 454+82 NM_001071.2:c.454+82G>A p.? p.? 3 3 188350 82 5' 90.6189 10.0684 0.993339 3.58166 90.6189 10.0684 0.993339 3.33684 0 Cryptic Donor Weakly Activated 662396 3.93194 0.129579 74.6184 4.29984 0.233867 74.3083 rs778560479 yes no Frequency 1 G 0.000000 0 0.000194 0.000000 0.001193 0.000000 0.000000 0.000000 0.000267 0.000000 0.001018 0.001193 6 0 1 0 0 0 4 0 1 30932 8720 838 302 1618 0 14978 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.36065573 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . 0.1472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000176890 TYMS TYMS . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs778560479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0012 0 0 0 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs376142145 18 3100228 A G - MYOM1 7613 Myomesin 1, 185kDa NM_003803.3 -1 5847 5058 NP_003794.3 P52179 substitution intron GRCh37 3100228 3100228 Chr18(GRCh37):g.3100228A>G 3683-27 3683-27 NM_003803.3:c.3683-27T>C p.? p.? 25 24 603508 -27 3' 89.2957 XII.95 0.972274 9.01211 89.2957 XII.95 0.972274 9.09289 0 3100226 -24.7594 rs376142145 yes no Frequency 1 A 0.000000 0 0.000451 0.000375 0.000029 0.000000 0.000000 0.000000 0.000900 0.000000 0.000155 0.000900 125 9 1 0 0 0 114 0 1 277080 24010 34412 10146 18862 30776 126628 25788 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 9 1 0 0 0 114 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8180 3687 11867 4 1 5 0.000488759 0.00027115 0.000421159 0.000488759 0.00027115 0.000421159 94 transition T C T>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.58181816 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . . 0.0003 0.0004 0.0005 0.0003 0.0004 0.0005 . 0.2859 . . . . . . . . 2.963e-04 . . . 0.0002 0.0003 0 0 0 0.0006 0.0014 0 0.0002 0.0003 0 0 0 0.0005 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.23 0.35 182 ENSG00000101605 MYOM1 MYOM1 . . . . . . 49 0.000754125 64976 49 0.000816857 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376142145 . . . . . . . . . . . . . . . . . . . . . . . 0.000421 . . . . . 0.0002 0.0004 2.979e-05 0 0 0 0.0009 0.0002 0 0.0007 0.0006 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs376142145 rs376142145 1 1538 10 1/0 0,255,255 +. 18 5197503 C CAAA - AKAIN1 28285 A kinase (PRKA) anchor inhibitor 1 NM_001145194.1 -1 2302 210 NP_001138666.1 P0CW23 duplication upstream GRCh37 5197503 5197504 Chr18(GRCh37):g.5197504_5197506dup -454 -452 NM_001145194.1:c.-454_-452dup p.? p.? 1 616427 -467 5' 71.2846 7.28962 0.895768 5.35029 71.2846 7.28962 0.895768 5.35029 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes TTT 255 Pass . . . . . . . . . . . . . . . . 0.72727275 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 22 . . UPSTREAM(MODIFIER||||C18orf42|mRNA|CODING|NM_001145194|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . . . . . . . . ENSG00000231824 C18orf42 C18orf42 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,14 +rs202096044 18 8786031 G A - MTCL1 29121 Microtubule crosslinking factor 1 NM_015210.3 1 6092 4761 NP_056025.2 substitution missense exon GRCh37 8786031 8786031 Chr18(GRCh37):g.8786031G>A 1829 1829 NM_015210.3:c.1829G>A p.Arg610His p.Arg610His 7 615766 -59 5' 81.2842 V.29 0.509841 9.23244 81.2842 V.29 0.509841 8.80548 0 rs202096044 yes no Frequency/1000G 2 G 0.000000 0 0.007388 0.000800 0.010200 0.007900 0.006000 0.017300 0.009370 0.001699 0.024061 0.011991 0.010771 0.010757 0.007590 0.000123 0.011551 0.024061 2407 37 802 116 195 322 862 3 70 256896 21780 33332 9674 18104 29934 113568 24444 6060 0.000202 0.000000 0.000540 0.000413 0.000110 0.000468 0.000123 0.000000 0.000000 26 0 9 2 1 7 7 0 0 2355 37 784 112 193 308 848 3 70 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8064 4234 12298 56 4 60 0.00689655 0.000943841 0.00485515 0.00689655 0.000943841 0.00485515 13 COSM1740450|COSM1740450 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000567 2231|3530 transition G A G>A 0.992 1.820 R Arg CGC 0.190 H His CAC 0.587 610 12 10 Frog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 125.46 0.00 Tolerated 0.11 III.72 good 5.703E-1 0.09939 252 PASS . 0.01 0.02 0.01 0.01 0.0008 0.0074 0.017 0.0079 0.006 0.01 . . MTCL1:NM_015210:exon7:c.G1829A:p.R610H . . 0.3181818 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.374 . @ . . . . . 1 0.501 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R610H|MTCL1|mRNA|CODING|NM_015210|NM_015210.ex.7) 0.0009 0.0049 0.0069 0.0009 0.0049 0.0069 . -0.4137 -0.373 -0.414 c . . . . . 9.301e-03 . . . 0.0016 0.0156 0.0384 0.0160 0 0.0132 0.0322 0.0148 0.0017 0.0130 0.0383 0.0156 0 0.0094 0.0231 0.0148 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.512 . . exonic exonic exonic . . 0.312 0.0074 . . . 0.43 0.5 182 ENSG00000168502 SOGA2 MTCL1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.142 . . . . . . . . . 37 . 0.252 . . 0.086 . . . 0.339 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.209 . . 0.162 . . . . . . 0 0.309 . . . . . 0.478 . 0.314 . HET . rs202096044 . . . . . . . 0.009615384615384616 0.0 0.024861878453038673 0.013986013986013986 0.005277044854881266 XI.91 0.001125 . V.54 II.74 . 0.100000 . . . . 0.004855 . 0.569 . . II.74 0.0014 0.0099 0.0242 0.0115 0.0107 9.537e-05 0.0078 0.0128 0.0108 0.0021 0.0052 0.0180 0.0265 0.0111 0.0003 0.0063 0.0051 . . 0.567 . 0.277 0.277000 . . 0.100000 . . 1.0000000000000001E-252 1.000 0.715 . 0.231 0.615 . 0.601 . 0.225 0.277 -0.021 0.02 . . rs202096044 rs202096044 1 1538 10 1/0 0,255,255 +rs112600899 18 8786117 C A - MTCL1 29121 Microtubule crosslinking factor 1 NM_015210.3 1 6092 4761 NP_056025.2 substitution intron GRCh37 8786117 8786117 Chr18(GRCh37):g.8786117C>A 1887+28 1887+28 NM_015210.3:c.1887+28C>A p.? p.? 7 7 615766 28 5' 81.2842 V.29 0.509841 9.23244 81.2842 V.29 0.509841 8.95911 0 rs112600899 yes no Frequency 1 C 0.000000 0 0.008483 0.003322 0.007955 0.013324 0.003799 0.006684 0.010364 0.009533 0.007943 0.013324 839 17 141 74 29 110 371 76 21 98902 5118 17724 5554 7634 16458 35798 7972 2644 0.013111 0.117647 0.000000 0.000000 0.000000 0.009091 0.018868 0.013158 0.000000 11 2 0 0 0 1 7 1 0 123 36 11 7 2 38 20 5 4 0 0 0 0 0 0 0 0 0 PASS 153 Exomes transversion C A C>A 0.000 -0.198 255 PASS . . . . . . . . . . . . SOGA2:uc010dkw.1:exon2:c.C1429A:p.P477T . . . 0.4375 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||MTCL1|mRNA|CODING|NM_015210|) . . . . . . . 0.3551 . . . . . . . . 6.350e-04 . . . 0.0039 0.0005 0 0 0 0.0003 0 0 0.0029 0.0003 0 0 0 0.0005 0 0 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.3 0.19 182 ENSG00000168502 SOGA2 MTCL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112600899 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0085 0.0080 0.0133 0.0038 0.0095 0.0104 0.0079 0.0067 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs112600899 rs112600899 1 1538 10 1/0 0,255,255 +rs117942846 18 10472074 G A - APCDD1 15718 Adenomatosis polyposis coli down-regulated 1 NM_153000.4 1 2562 1545 NP_694545.1 Q8J025 substitution intron GRCh37 10472074 10472074 Chr18(GRCh37):g.10472074G>A 774+16 774+16 NM_153000.4:c.774+16G>A p.? p.? 3 3 607479 16 5' 76.2121 VIII.38 0.922741 4.24878 76.2121 VIII.38 0.922741 4.14538 0 rs117942846 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000800 0.005100 0.000000 0.008900 0.004300 0.006843 0.001498 0.005439 0.010048 0.000106 0.003999 0.010630 0.002215 0.008440 0.010630 1861 35 187 101 2 123 1302 57 54 271972 23364 34382 10052 18796 30756 122488 25736 6398 0.000051 0.000000 0.000116 0.000000 0.000000 0.000065 0.000049 0.000000 0.000313 7 0 2 0 0 1 3 0 1 1847 35 183 101 2 121 1296 57 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8492 4394 12886 100 10 110 0.0116387 0.00227066 0.00846414 0.0116387 0.00227066 0.00846414 48 transition G A G>A 0.000 1.093 255 PASS 0.002 0.0027 . . 0.01 0.0008 0.0036 0.0043 . 0.0089 0.0051 . . . . . 0.5090909 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||APCDD1|mRNA|CODING|NM_153000|) 0.0023 0.0085 0.012 0.0023 0.0085 0.012 . 0.1377 . . . . . . . . 7.049e-03 . . . 0.0019 0.0065 0.0032 0 0.0034 0.0109 0.0073 0.0040 0.0018 0.0072 0.0033 0.0001 0.0033 0.0113 0.0058 0.0040 . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.28 0.32 182 ENSG00000154856 APCDD1 APCDD1 . . . . . . 468 0.00720266 64976 450 0.00750175 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117942846 . . . . . . . . . . . . . . . . . . . . . . . 0.008464 . . . . II.74 0.0014 0.0070 0.0053 0.0099 0.0001 0.0022 0.0108 0.0085 0.0040 0.0016 0.0057 0.0096 0.0132 0 0.0020 0.0091 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs117942846 rs117942846 1 1538 10 1/0 0,255,255 +rs372907975 (chr18:11619523 C/A) 18 11619523 C A Not on a known gene +rs571340907 18 12377152 G A - AFG3L2 315 AFG3-like AAA ATPase 2 NM_006796.2 -1 3209 2394 NP_006787.2 Q9Y4W6 substitution 5'UTR GRCh37 12377152 12377152 Chr18(GRCh37):g.12377152G>A -71 -71 NM_006796.2:c.-71C>T p.? p.? 1 604581 -185 5' 86.4167 XI.33 0.993727 13.5906 86.4167 XI.33 0.993727 13.5906 0 rs571340907 yes no Frequency/1000G 2 G likely_benign 0.000998 A 5 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.005106 0.001483 0.001840 0.001125 0.000366 0.002877 0.008877 0.004320 0.005054 0.008877 451 14 19 6 1 40 327 31 13 88322 9440 10326 5334 2732 13904 36838 7176 2572 0.000068 0.000000 0.000000 0.000000 0.000000 0.000144 0.000109 0.000000 0.000000 3 0 0 0 0 1 2 0 0 445 14 19 6 1 38 323 31 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000266676.1 germline clinical testing Likely benign 1 Spinocerebellar Ataxia, Dominant transition C T C>T 0.000 -0.037 255 PASS . . . . . . 0.001 . . 0.005 . . . . . . 0.5714286 . . germline 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Likely//\@benign Likely_benign RCV000266676.1 . MedGen CN239243 2 . . . 21.0 . . UTR_5_PRIME(MODIFIER||||AFG3L2|mRNA|CODING|NM_006796|NM_006796.ex.1) . . . . . . . 1.1387 . . . . . . . . 3.115e-03 . . . 0 0.0039 0.0227 0 . 0.0044 0.02 0.0036 0 0.0039 0.0227 0 . 0.0044 0.02 0.0036 . . . . . . UTR5 UTR5 UTR5 . . . 0.0010 . . . . . . ENSG00000141385 AFG3L2 AFG3L2 ENST00000269143:c.-71C>T uc002kqz.2:c.-71C>T NM_006796:c.-71C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs571340907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0046 0.0016 0.0010 0 0.0045 0.0085 0.0031 0.0029 0.0016 0.0060 0.005 0.0033 0.0006 0.0041 0.0095 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs77074091 18 14183569 A C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183569 14183569 Chr18(GRCh37):g.14183569A>C 502-82 502-82 NR_040113.1:n.502-82A>C p.? p.? 2 1 -82 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 4.17282 0 Cryptic Acceptor Strongly Activated 14183575 0.000119 69.9766 0.118431 0.003031 73.6994 rs77074091 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30688 8610 832 302 1602 0 14900 3476 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transversion A C A>C 0.000 -0.440 252 PASS . . . . . . . . . . . . . . . . 0.3148148 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.5413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.17 0.3 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77074091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . rs77074091 rs77074091 1 1538 10 1/0 0,255,255 +rs79499461 18 14183574 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183574 14183574 Chr18(GRCh37):g.14183574G>A 502-77 502-77 NR_040113.1:n.502-77G>A p.? p.? 2 1 -77 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 3.92435 0 rs79499461 no no 0 0.000000 0 transition G A G>A 0.000 -0.521 198 PASS . . . . . . . . . . . . . . . . 0.29310346 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.2118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.14 0.31 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79499461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . rs79499461 rs79499461 1 1538 10 1/0 0,255,255 +. 18 14183579 T TAC - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 insertion intron GRCh37 14183580 14183581 Chr18(GRCh37):g.14183580_14183581insCA 502-71 502-70 NR_040113.1:n.502-71_502-70insCA p.? p.? 2 1 -70 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 3.96868 0 14183581 -31.2032 rs752017956 no no 0 0.000000 0 CA 255 Pass . . . . . . . . . . . . . . . . 0.22580644 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs752017956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,65 +rs878934618 18 14183581 A G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183581 14183581 Chr18(GRCh37):g.14183581A>G 502-70 502-70 NR_040113.1:n.502-70A>G p.? p.? 2 1 -70 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 4.31265 0 New Acceptor Site 14183582 1.1441 0.568564 14183581 -78.0802 rs878934618 no no 0 0.000000 0 transition A G A>G 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.32692307 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.1392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139863143 18 14183598 A G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183598 14183598 Chr18(GRCh37):g.14183598A>G 502-53 502-53 NR_040113.1:n.502-53A>G p.? p.? 2 1 -53 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 4.12655 0 rs139863143 no no 0 0.000000 0 0.003612 0.005412 0.003145 0.003906 0.003540 0.000000 0.002686 0.002527 0.006614 0.005412 83 34 2 1 4 0 31 6 5 22976 6282 636 256 1130 0 11542 2374 756 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 34 2 1 4 0 31 6 5 0 0 0 0 0 0 0 0 0 RF 66 Genomes transition A G A>G 0.000 -1.167 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.2304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.15 0.21 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs139863143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0054 0.0036 0.0031 0.0039 0.0035 0.0025 0.0027 0.0066 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs1297014 rs1297014 rs1297014 rs1297014 1 1538 10 1/0 0,232,255 +rs75090388 18 14183680 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14183680 14183680 Chr18(GRCh37):g.14183680G>A 531 531 NR_040113.1:n.531G>A 2 30 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 4.43385 0 rs75090388 yes no Frequency 1 0.000000 0 0.000318 0.001128 0.000058 0.000000 0.000107 0.000000 0.000184 0.001076 0.001105 0.001128 87 26 2 0 2 0 23 27 7 273590 23048 34306 10126 18688 30756 125240 25092 6334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 26 2 0 2 0 23 27 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3773368|COSM3773368|COSM3773368 Upper aerodigestive tract|Skin|Pancreas 0.000804|0.000812|0.000569 1244|1232|1758 transition G A G>A 0.740 3.030 224 PASS . . . . . . . . . . . . ANKRD20A5P:uc010xag.2:exon2:c.G233A:p.G78D . . . 0.22413793 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 116.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W177*|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.2) . . . . . . . 0.7162 . . . . . . . . 6.314e-05 . . . 9.653e-05 5.513e-05 0 0 0 9.495e-05 0 0 0.0001 4.71e-05 0 0 0 7.362e-05 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.21 0.36 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75090388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.96 0 0 0 0 0 0 0 0 0 0.0034 0.0031 0.0027 0 0.0014 0.0097 0.0017 0.0081 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs75090388 rs75090388 1 1538 10 1/0 0,231,255 +rs75472228 18 14183876 G T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183876 14183876 Chr18(GRCh37):g.14183876G>T 617-52 617-52 NR_040113.1:n.617-52G>T p.? p.? 3 2 -52 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs75472228 yes no Frequency 1 0.000000 0 transversion G T G>T 0.000 -0.037 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.0670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.15 0.21 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75472228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs75472228 rs75472228 1 1538 10 1/0 0,255,255 +. 18 14183885 A AT - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 duplication intron GRCh37 14183887 14183888 Chr18(GRCh37):g.14183887dup 617-41 617-41 NR_040113.1:n.617-41dup p.? p.? 3 2 -40 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs776985785 no no 0 0.000000 0 0.000136 0.000819 0.000000 0.000000 0.000054 0.000000 0.000137 0.000039 0.000000 0.000819 37 18 0 0 1 0 17 1 0 271496 21990 34290 10050 18644 30722 123880 25588 6332 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 18 0 0 1 0 17 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.39473686 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 38 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776985785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0025 0.0013 0 0 0.0007 0.0003 0.0012 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +rs796943807 18 14183891 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183891 14183891 Chr18(GRCh37):g.14183891G>A 617-37 617-37 NR_040113.1:n.617-37G>A p.? p.? 3 2 -37 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 New Acceptor Site 14183893 6.73286 0.210466 79.906 rs796943807 no no 0 0.000000 0 0.000177 0.000969 0.000087 0.000000 0.000054 0.000000 0.000162 0.000039 0.000317 0.000969 48 21 3 0 1 0 20 1 2 270766 21676 34288 10044 18584 30718 123642 25500 6314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 21 3 0 1 0 20 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.47058824 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.3576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0030 0.0018 0.0038 0 0.0007 0.0003 0.0015 0.0023 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs79021167 18 14183894 A C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183894 14183894 Chr18(GRCh37):g.14183894A>C 617-34 617-34 NR_040113.1:n.617-34A>C p.? p.? 3 2 -34 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs79021167 yes no Frequency 1 0.000000 0 0.000155 0.000814 0.000058 0.000000 0.000054 0.000000 0.000145 0.000039 0.000316 0.000814 42 18 2 0 1 0 18 1 2 271726 22118 34308 10056 18666 30722 123994 25534 6328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 18 2 0 1 0 18 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.205 216 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . 0.0694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.14 0.24 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79021167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0024 0.0015 0.0026 0 0.0007 0.0003 0.0013 0.0023 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs79021167 rs79021167 1 1538 10 1/0 0,255,255 +rs78375870 18 14183901 T A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183901 14183901 Chr18(GRCh37):g.14183901T>A 617-27 617-27 NR_040113.1:n.617-27T>A p.? p.? 3 2 -27 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs78375870 yes no Frequency 1 0.000000 0 0.000625 0.004255 0.000118 0.000100 0.000552 0.000000 0.000434 0.000330 0.000990 0.004255 164 83 4 1 10 0 52 8 6 262374 19506 33972 9974 18108 30582 119952 24222 6058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 164 83 4 1 10 0 52 8 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 -4.556 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.8558 . . . . . . . . 1.660e-04 . . . 0.0001 0.0001 0.0002 0 0 0.0001 0 0.0001 0.0001 6.787e-05 0.0002 0 0 3.814e-05 0 0.0001 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.16 0.23 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78375870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.24e-06 0 0.0001 0 0 9.097e-06 0 0 0.0172 0.0082 0.0068 0 0.0111 0.0033 0.0051 0.0096 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78375870 rs78375870 1 1538 10 1/0 0,255,255 +rs75927731 18 14183905 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183905 14183905 Chr18(GRCh37):g.14183905G>A 617-23 617-23 NR_040113.1:n.617-23G>A p.? p.? 3 2 -23 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs75927731 yes no Frequency 1 0.000000 0 0.000296 0.001910 0.000029 0.000000 0.000269 0.000000 0.000227 0.000080 0.000478 0.001910 80 41 1 0 5 0 28 2 3 269916 21470 34266 10068 18560 30720 123524 25036 6272 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 41 1 0 5 0 28 2 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -3.830 255 PASS . . . . . . . . . . . . . . . . 0.42424244 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.6996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.16 0.23 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75927731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0061 0.0031 0.0014 0 0.0038 0.0007 0.0021 0.0037 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75927731 rs75927731 1 1538 10 1/0 0,255,255 +rs75594827 18 14183909 C A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183909 14183909 Chr18(GRCh37):g.14183909C>A 617-19 617-19 NR_040113.1:n.617-19C>A p.? p.? 3 2 -19 3' 72.3891 2.15552 0.001267 0 72.3891 1.44982 0.000856 0 -0.21726 rs75594827 yes no Frequency 1 0.000000 0 0.000446 0.003047 0.000058 0.000000 0.000325 0.000000 0.000316 0.000201 0.000482 0.003047 120 65 2 0 6 0 39 5 3 269172 21332 34224 10058 18480 30728 123240 24880 6230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 65 2 0 6 0 39 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.198 235 PASS . . . . . . . . . . . . . . . . 0.26190478 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.1456 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.12 0.27 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75594827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0099 0.0048 0.0028 0 0.0048 0.0019 0.0030 0.0038 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs75594827 rs75594827 1 1538 10 1/0 0,255,255 +rs376884553 18 14183954 T C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14183954 14183954 Chr18(GRCh37):g.14183954T>C 643 643 NR_040113.1:n.643T>C 3 27 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs376884553 yes no Frequency 1 0.000000 0 0.000004 0.000044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000044 1 1 0 0 0 0 0 0 0 272514 22778 34334 10040 18790 30774 124196 25246 6356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.969 1.174 235 PASS . . . . . . . . . . . . ANKRD20A5P:uc010xag.2:exon3:c.T345C:p.C115C . . . 0.25974026 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C215R|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.3) . . . . . . . 0.4800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376884553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.98 0 0 0 0 0 0 0 0 0 0.0001 3.392e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs376884553 rs376884553 1 1538 10 1/0 0,251,255 +rs62085008 18 14184006 G C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14184006 14184006 Chr18(GRCh37):g.14184006G>C 695 695 NR_040113.1:n.695G>C 3 79 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs62085008 yes no Frequency/1000G 2 0.000000 0 0.001885 0.002506 0.003125 0.000000 0.000733 0.000000 0.001158 0.004525 0.001289 0.004525 48 17 2 0 1 0 15 12 1 25466 6784 640 294 1364 0 12956 2652 776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 16 2 0 1 0 15 12 1 0 0 0 0 0 0 0 0 0 RF 66 Genomes transversion G C G>C 0.126 0.205 253 PASS . . . . . . . . . . . . ANKRD20A5P:uc010xag.2:exon3:c.G397C:p.G133R . . . 0.3152174 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 92.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cCg|R232P|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.3) . . . . . . . 0.2196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0419 . . . 0.29 0.4 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62085008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0019 0.0031 0 0.0007 0.0045 0.0012 0.0013 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs62085008 rs62085008 rs62085008 rs62085008 1 1538 10 1/0 0,249,255 +rs62085009 18 14184023 T G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14184023 14184023 Chr18(GRCh37):g.14184023T>G 712 712 NR_040113.1:n.712T>G 3 -79 5' 72.3493 7.98261 0.498236 2.66874 72.3493 7.98261 0.498236 II.82 0 New Acceptor Site 14184024 0.170428 0.245213 75.9276 rs62085009 no no 0 0.000000 0 0.000436 0.002206 0.000088 0.000000 0.000271 0.000000 0.000269 0.001007 0.000811 0.002206 117 46 3 0 5 0 33 25 5 268184 20852 34192 10102 18470 30780 122790 24834 6164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 46 3 0 5 0 33 25 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.992 -0.037 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tta/Gta|L238V|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.3) . . . . . . . 0.4003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.36 0.35 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62085009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.72e-05 4.086e-06 0 0 0 0 0 0 0 0.0075 0.0049 0.0049 0 0.0041 0.0099 0.0027 0.0071 . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs62085009 rs62085009 rs62085009 rs62085009 1 1538 10 1/0 0,245,255 +rs796405573 18 14186369 T C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14186369 14186369 Chr18(GRCh37):g.14186369T>C 791-1635 791-1635 NR_040113.1:n.791-1635T>C p.? p.? 4 3 -1635 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs796405573 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104458 5430 18318 6174 8960 17154 41036 4462 2924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Exomes transition T C T>C 0.000 0.044 229 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.2288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781308073 18 14186370 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14186370 14186370 Chr18(GRCh37):g.14186370G>A 791-1634 791-1634 NR_040113.1:n.791-1634G>A p.? p.? 4 3 -1634 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 Cryptic Donor Strongly Activated 14186367 0.003936 58.4783 2.30155 0.090435 62.8407 rs781308073 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104562 5418 18344 6196 8962 17178 41092 4448 2924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Exomes transition G A G>A 0.000 -1.812 227 PASS . . . . . . . . . . . . . . . . 0.23728813 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.4657 . . . . . . . . 1.789e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781308073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 18 14186371 TC T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 deletion intron GRCh37 14186375 14186375 Chr18(GRCh37):g.14186375del 791-1629 791-1629 NR_040113.1:n.791-1629del p.? p.? 4 3 -1629 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs113236427 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.23333333 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113236427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113236427 rs113236427 1 1538 10 1.I 0,9,63 +rs199650062 18 14186428 G T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14186428 14186428 Chr18(GRCh37):g.14186428G>T 791-1576 791-1576 NR_040113.1:n.791-1576G>T p.? p.? 4 3 -1576 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 Cryptic Acceptor Strongly Activated 14186444 1.99195 0.066134 81.4689 3.69019 0.299464 81.4689 rs199650062 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000044 0.000204 0.000081 0.000000 0.000087 0.000000 0.000015 0.000000 0.000000 0.000204 7 3 2 0 1 0 1 0 0 159880 14676 24556 8346 11534 22534 64860 8788 4586 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -1.409 227 PASS . . . . . 0.0008 0.0002 . . . . . ANKRD20A5P:uc002ksv.2:exon2:c.G148T:p.G50C . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.4224 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . 0.0002 . . . 0.22 0.15 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199650062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 3.099e-05 8.432e-05 0 0.0001 0 0 0 0 0.0002 9.743e-05 0 0 0 0 6.662e-05 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs78480832 18 14187255 A G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14187255 14187255 Chr18(GRCh37):g.14187255A>G 791-749 791-749 NR_040113.1:n.791-749A>G p.? p.? 4 3 -749 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs78480832 yes no Frequency 1 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000000 0.000086 3 0 0 0 0 0 3 0 0 90402 3602 16734 6316 5962 16386 34774 4072 2556 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 101 Exomes transition A G A>G 0.000 -0.682 182 PASS . . . . . . . . . . . . ANKRD20A5P:uc002ksv.2:exon3:c.A253G:p.T85A . . . 0.54545456 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.3681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.41 0.3 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78480832 . . CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000071754.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000071754.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000071754.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000071754.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . . . . . . . . . . 0 3.319e-05 0 0 0 0 8.627e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs78480832 . 1 1538 10 1/0 0,255,255 +rs111324223 18 14187309 C T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14187309 14187309 Chr18(GRCh37):g.14187309C>T 791-695 791-695 NR_040113.1:n.791-695C>T p.? p.? 4 3 -695 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs111324223 yes no Frequency 1 0.000000 0 0.000057 0.000071 0.000000 0.000000 0.000177 0.000000 0.000047 0.000353 0.000000 0.000353 9 1 0 0 2 0 3 3 0 157788 14134 24488 8334 11324 22528 63990 8490 4500 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 2 0 3 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.205 224 PASS . . . . . . . . . . . . ANKRD20A5P:uc002ksv.2:exon3:c.C307T:p.P103S . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.1593 . . . . . . . . 5.405e-04 . . . 0.0036 0.0003 0.0054 0 0 0.0003 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.48 0.29 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111324223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0001 0.0003 0 0 0.0014 0.0009 0.0002 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs35255759 rs35255759 rs35255759 rs111324223 1 1538 10 1/0 0,255,255 +rs76007622 18 14187312 G T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14187312 14187312 Chr18(GRCh37):g.14187312G>T 791-692 791-692 NR_040113.1:n.791-692G>T p.? p.? 4 3 -692 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs76007622 yes no Frequency 1 0.000000 0 0.000051 0.000071 0.000000 0.000000 0.000177 0.000000 0.000031 0.000354 0.000000 0.000354 8 1 0 0 2 0 2 3 0 157580 14108 24458 8328 11310 22502 63896 8482 4496 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 0 2 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.008 1.093 224 PASS . . . . . . . . . . . . ANKRD20A5P:uc002ksv.2:exon3:c.G310T:p.E104X . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.0947 . . . . . . . . 5.361e-04 . . . 0.0036 0.0003 0.0054 0 0 0.0003 0 0 . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.46 0.32 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76007622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0001 0.0003 0 0 0.0014 0.0009 0.0001 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs35172558 rs35172558 rs35172558 rs35172558 1 1538 10 1/0 0,255,255 +rs3960244 18 14219972 C A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14219972 14219972 Chr18(GRCh37):g.14219972C>A 1675 1675 NR_040113.1:n.1675C>A 14 62 3' 90.2732 10.064 0.796043 3.42838 90.2732 10.064 0.796043 2.77981 0 rs3960244 yes no Frequency 1 0.000000 0 transversion C A C>A 0.016 -0.279 247 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R559|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.14) . . . . . . . -0.3158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.44 0.26 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30866\x3bdist\x3d32153 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3960244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . rs3960244 rs3960244 rs3960244 rs3960244 1 1538 10 1/0 0,255,255 +rs74649181 18 14220002 T C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14220002 14220002 Chr18(GRCh37):g.14220002T>C 1705 1705 NR_040113.1:n.1705T>C 14 -90 5' 87.8485 8.76378 0.996164 4.37691 87.8485 8.76378 0.996164 4.37691 0 rs74649181 no no 0 0.000000 0 transition T C T>C 0.299 0.448 255 PASS . . . . . . . . . . . . . . . . 0.57575756 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 33.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y569H|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.14) . . . . . . . 0.1157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.44 0.3 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30896\x3bdist\x3d32123 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74649181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74649181 rs74649181 1 1538 10 1/0 0,255,255 +rs78704694 18 14220025 A G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14220025 14220025 Chr18(GRCh37):g.14220025A>G 1728 1728 NR_040113.1:n.1728A>G 14 -67 5' 87.8485 8.76378 0.996164 4.37691 87.8485 8.76378 0.996164 4.42761 0 rs78704694 no no 0 0.000000 0 transition A G A>G 0.433 0.205 255 PASS . . . . . . . . . . . . . . . . 0.53333336 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K576|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.14) . . . . . . . -0.0522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.48 0.34 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30919\x3bdist\x3d32100 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78704694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78704694 rs78704694 1 1538 10 1/0 0,255,255 +rs74546450 18 14220062 C A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14220062 14220062 Chr18(GRCh37):g.14220062C>A 1765 1765 NR_040113.1:n.1765C>A 14 -30 5' 87.8485 8.76378 0.996164 4.37691 87.8485 8.76378 0.996164 4.15493 0 rs74546450 no no 0 0.000000 0 transversion C A C>A 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.6122449 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Aca|P589T|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.14) . . . . . . . -0.2842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.45 0.29 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30956\x3bdist\x3d32063 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74546450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74546450 rs74546450 1 1538 10 1/0 0,255,255 +rs76731968 18 14220092 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution splice site GRCh37 14220092 14220092 Chr18(GRCh37):g.14220092G>A 1794+1 1794+1 NR_040113.1:n.1794+1G>A p.? p.? 14 14 1 5' 87.8485 8.76378 0.996164 4.37691 0 0 0 0 -1 rs76731968 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000620 0.000120 0.002732 0.000000 0.000000 0.000000 0.000068 0.004608 0.002257 0.004608 18 1 2 0 0 0 1 12 2 29040 8304 732 298 1572 0 14644 2604 886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 1 2 0 0 0 1 12 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.976 2.062 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.65909094 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 44.0 . . . . . . . . . . 0.5027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_splicing intergenic ncRNA_splicing . . . 0.0002 . . . 0.39 0.23 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30986\x3bdist\x3d32033 NR_040113:exon14:c.1794+1G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76731968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.26 . . . . . . . . . 0.0001 0.0006 0.0027 0 0 0.0046 6.829e-05 0.0023 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76731968 rs76731968 1 1538 10 1/0 0,255,255 +. (chr18:14251574 A/T) 18 14251574 A T Not on a known gene +rs796284434 (chr18:14251590 G/A) 18 14251590 G A Not on a known gene +rs199833064 (chr18:14251608 C/T) 18 14251608 C T Not on a known gene +rs371533294 (chr18:14251619 A/G) 18 14251619 A G Not on a known gene +rs201138107 (chr18:14251660 G/A) 18 14251660 G A Not on a known gene +rs199741467 (chr18:14251678 T/A) 18 14251678 T A Not on a known gene +rs781687095 18 14534980 G A - POTEC 33894 POTE ankyrin domain family, member C NM_001137671.1 -1 2243 1629 NP_001131143.1 B2RU33 substitution synonymous exon GRCh37 14534980 14534980 Chr18(GRCh37):g.14534980G>A 837 837 NM_001137671.1:c.837C>T p.Gly279= p.Gly279Gly 4 27 3' 87.0582 9.57555 0.87821 5.17987 87.0582 9.57555 0.87821 4.697 0 Ankyrin repeat Ankyrin repeat-containing domain rs781687095 yes no Frequency 1 0.000000 0 0.002302 0.001162 0.001014 0.001473 0.001705 0.002072 0.003110 0.002384 0.001759 0.003110 382 21 18 8 21 33 229 45 7 165974 18066 17748 5432 12320 15924 73628 18876 3980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 382 21 18 8 21 33 229 45 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.844 G Gly GGC 0.342 G Gly GGT 0.162 279 213 PASS . . . . . . . . . . . . POTEC:uc010dln.3:exon4:c.C837T:p.G279G POTEC:NM_001137671:exon4:c.C837T:p.G279G . . 0.19642857 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 56.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G279|POTEC|mRNA|CODING|NM_001137671|NM_001137671.ex.4) . . . . . . . -0.4524 . . . . . . . . 3.532e-03 . . . 0.0048 0.0097 0.0057 0.0026 0.0077 0.0135 0.0156 0.0082 0.0054 0.0115 0.0057 0.0029 0.0031 0.0193 0.0078 0.0086 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000183206 POTEC POTEC . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781687095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0024 0.0009 0.0016 0.0018 0.0014 0.0036 0.0016 0.0021 0.0007 0.0018 0.0038 0 0.0012 0.0069 0.0012 0.0022 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879043932 18 14535058 T C - POTEC 33894 POTE ankyrin domain family, member C NM_001137671.1 -1 2243 1629 NP_001131143.1 B2RU33 substitution intron GRCh37 14535058 14535058 Chr18(GRCh37):g.14535058T>C 811-52 811-52 NM_001137671.1:c.811-52A>G p.? p.? 4 3 -52 3' 87.0582 9.57555 0.87821 5.17987 87.0582 9.57555 0.87821 V.46 0 rs879043932 no no 0 0.000000 0 0.005635 0.006917 0.006289 0.000000 0.018072 0.000000 0.002798 0.012066 0.002525 0.018072 136 46 4 0 18 0 34 32 2 24134 6650 636 258 996 0 12150 2652 792 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136 46 4 0 18 0 34 32 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition A G A>G 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.39285713 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||POTEC|mRNA|CODING|NM_001137671|) . . . . . . . -0.3319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.32 182 ENSG00000183206 POTEC POTEC . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0069 0.0056 0.0063 0 0.0181 0.0121 0.0028 0.0025 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2943441 rs2943441 rs2943441 rs2943441 1 1538 10 1/0 0,255,255 +. 18 14830041 T C - ANKRD30B 24165 Ankyrin repeat domain 30B NM_001145029.1 1 4617 4179 NP_001138501.1 substitution intron GRCh37 14830041 14830041 Chr18(GRCh37):g.14830041T>C 2418-1341 2418-1341 NM_001145029.1:c.2418-1341T>C p.? p.? 28 27 616565 -1341 3' 86.2819 8.60868 0.979113 5.36961 86.2819 8.60868 0.979113 5.36961 0 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000141 0.000000 0.000000 0.000141 2 0 0 0 0 0 2 0 0 29468 8304 810 298 1562 0 14170 3380 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.000 -0.763 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.5810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.25 182 ENSG00000180777 ANKRD30B ANKRD30B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.787e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs2775564 rs2775564 rs2775564 rs2775564 1 1538 10 1/0 0,249,255 +. 18 14830041 T C - MIR3156-2 38213 MicroRNA 3156-2 NR_036153.1 1 77 0 substitution upstream GRCh37 14830041 14830041 Chr18(GRCh37):g.14830041T>C -124 -124 NR_036153.1:n.-124T>C p.? p.? 1 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000141 0.000000 0.000000 0.000141 2 0 0 0 0 0 2 0 0 29468 8304 810 298 1562 0 14170 3380 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.000 -0.763 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.5810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.25 182 ENSG00000180777 ANKRD30B ANKRD30B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.787e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs2775564 rs2775564 rs2775564 rs2775564 1 1538 10 1/0 0,249,255 +rs2792490 18 14830042 G A - ANKRD30B 24165 Ankyrin repeat domain 30B NM_001145029.1 1 4617 4179 NP_001138501.1 substitution intron GRCh37 14830042 14830042 Chr18(GRCh37):g.14830042G>A 2418-1340 2418-1340 NM_001145029.1:c.2418-1340G>A p.? p.? 28 27 616565 -1340 3' 86.2819 8.60868 0.979113 5.36961 86.2819 8.60868 0.979113 5.36961 0 rs2792490 no no 0 G 0.000000 0 0.000034 0.000121 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000121 1 1 0 0 0 0 0 0 0 29288 8250 806 292 1554 0 14078 3370 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition G A G>A 0.000 -0.440 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.4170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000180777 ANKRD30B ANKRD30B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2792490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.414e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs2792490 rs2792490 rs2792490 rs2792490 1 1538 10 1/0 0,249,255 +rs2792490 18 14830042 G A - MIR3156-2 38213 MicroRNA 3156-2 NR_036153.1 1 77 0 substitution upstream GRCh37 14830042 14830042 Chr18(GRCh37):g.14830042G>A -123 -123 NR_036153.1:n.-123G>A p.? p.? 1 rs2792490 no no 0 G 0.000000 0 0.000034 0.000121 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000121 1 1 0 0 0 0 0 0 0 29288 8250 806 292 1554 0 14078 3370 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition G A G>A 0.000 -0.440 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.4170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000180777 ANKRD30B ANKRD30B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2792490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.414e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs2792490 rs2792490 rs2792490 rs2792490 1 1538 10 1/0 0,249,255 +rs75468016 (chr18:14866442 G/A) 18 14866442 G A Not on a known gene +rs79572304 (chr18:14866449 G/A) 18 14866449 G A Not on a known gene +rs77587164 (chr18:14866465 T/G) 18 14866465 T G Not on a known gene +rs77420911 (chr18:14866503 A/G) 18 14866503 A G Not on a known gene +. 18 19102774 C T - GREB1L 31042 Growth regulation by estrogen in breast cancer 1 like NM_001142966.2 1 9334 5772 NP_001136438.1 Q9C091 substitution missense exon GRCh37 19102774 19102774 Chr18(GRCh37):g.19102774C>T 5764 5764 NM_001142966.2:c.5764C>T p.His1922Tyr p.His1922Tyr 33 617782 156 3' 87.6287 9.49909 0.948267 XI.98 87.6287 9.49909 0.948267 XI.98 0 transition C T C>T 1.000 5.694 H His CAT 0.413 Y Tyr TAT 0.438 1922 12 11 Zebrafish 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 227.83 79.14 Deleterious 0 IV.17 255 PASS . . . . . . . . . . . . GREB1L:uc010xam.2:exon33:c.C5764T:p.H1922Y GREB1L:NM_001142966:exon33:c.C5764T:p.H1922Y . . 0.44 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.757 . @ . . . . . 1 0.888 . . 25.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H1922Y|GREB1L|mRNA|CODING|NM_001142966|NM_001142966.ex.33) . . . . . . . 0.7481 0.788 0.748 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.945 @ . . . . . . ENSG00000141449 GREB1L GREB1L . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.561 0.035 . . 37 . 0.393 . . 0.117 . . . 0.636 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.772 . . 0 0 0 0 0 0 . 0.715 . . 0.807 . . . . . . 0 0.912 . . . . . 0.984 . 0.909 . HET . . . . . . . . . . . . . . 20.2381 . . V.88 V.88 . 0.000000 Q9C091 . . . . . 0.818 . . V.88 . . . . . . . . . . . . . . . . . . . 0.465 . 2.779 2.779000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.993 . 0.799 . 0.362 2.779 0.871 . . . . . 1 1538 10 1/0 0,255,255 +. 18 20526308 TTTA T - RBBP8 9891 Retinoblastoma binding protein 8 NM_002894.2 1 3271 2694 NP_002885.1 Q99708 deletion intron GRCh37 20526314 20526316 Chr18(GRCh37):g.20526314_20526316del 110-93 110-91 NM_002894.2:c.110-93_110-91del p.? p.? 3 2 604124 -91 3' 99.4727 13.0739 0.998122 7.95822 99.4727 13.0739 0.998122 7.95822 0 20526314 -65.5829 rs573791810 no no 0 0.000000 0 0.004037 0.000000 0.000000 0.000000 0.000000 0.000000 0.005734 0.006869 0.015306 0.006869 125 0 0 0 0 0 86 24 15 30964 8734 838 302 1618 0 14998 3494 980 0.008000 0.000000 0.000000 0.000000 0.000000 0.000000 0.011628 0.000000 0.000000 1 0 0 0 0 0 1 0 0 123 0 0 0 0 0 84 24 15 0 0 0 0 0 0 0 0 0 PASS 41 Genomes ATT 255 Pass . . . . . . . . . . . . . . . . 0.37096775 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000101773 RBBP8 RBBP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs573791810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0040 0 0 0 0.0069 0.0057 0.0153 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,43 +rs34780140 18 20573434 T C - RBBP8 9891 Retinoblastoma binding protein 8 NM_002894.2 1 3271 2694 NP_002885.1 Q99708 substitution synonymous exon GRCh37 20573434 20573434 Chr18(GRCh37):g.20573434T>C 1644 1644 NM_002894.2:c.1644T>C p.Asp548= p.Asp548Asp 11 604124 -169 5' 79.6441 7.80624 0.877762 0 79.6441 7.80624 0.877762 0 0 rs34780140 yes no Frequency/1000G 2 T uncertain_significance,likely_benign 0.000000 0 0.004992 0.000000 0.000000 0.000000 0.018900 0.008600 0.007580 0.001749 0.008485 0.009365 0.000000 0.001722 0.011114 0.006048 0.008506 0.011114 2100 42 292 95 0 53 1407 156 55 277062 24008 34412 10144 18858 30782 126600 25792 6466 0.000072 0.000083 0.000058 0.000197 0.000000 0.000000 0.000111 0.000000 0.000000 10 1 1 1 0 0 7 0 0 2080 40 290 93 0 53 1393 156 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8496 4399 12895 102 7 109 0.0118632 0.00158874 0.00838204 0.0118632 0.00158874 0.00838204 43 RCV000357103.1|RCV000118132.2|RCV000316071.1 germline|germline|germline clinical testing|clinical testing|clinical testing VUS|Benign|VUS 1|1|1 Microcephaly with mental retardation and digital anomalies|not specified|Seckel syndrome transition T C T>C 0.843 -0.360 D Asp GAT 0.461 D Asp GAC 0.539 548 255 PASS . 0.01 0.01 . 0.02 . 0.005 0.0086 . 0.019 . . . . . . 0.55172414 . . germline 16 . . 1.2.2016 0 0 0 0 1 0 1 1 1 1 0 0 . . . . . . . . Likely//\@benign//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance Likely_benign|Uncertain_significance|Uncertain_significance RCV000118132.1|RCV000316071.1|RCV000357103.1 not_specified|Seckel_syndrome|Microcephaly_with_mental_retardation_and_digital_anomalies MedGen|MedGen:Orphanet:SNOMED_CT|Gene:MedGen:OMIM CN169374|C0265202:ORPHA808:57917004|100192306:C2673414:251255 2 . . . 29.0 . . . 0.0016 0.0084 0.012 0.0016 0.0084 0.012 . 0.6858 . . . . . . . . 7.546e-03 . . . 0.0015 0.0076 0.0077 0 0.0058 0.0126 0.0112 0.0013 0.0015 0.0072 0.0077 0 0.0062 0.0110 0.0101 0.0013 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0050 . . . 0.46 0.27 182 ENSG00000101773 RBBP8 RBBP8 . . . . . . 664 0.0102192 64976 639 0.0106525 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34780140 0.011 0.007 . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000118132.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000118132.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000118132.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . . . . 0.008382 . . . . . 0.0019 0.0078 0.0085 0.0094 0 0.0062 0.0114 0.0089 0.0017 0.0015 0.0060 0.0095 0.0066 0 0.0052 0.0092 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs34780140 rs34780140 rs34780140 rs34780140 1 1538 10 1/0 0,255,255 +. 18 21124907 A AC - NPC1 7897 Niemann-Pick disease, type C1 NM_000271.4 -1 4814 3837 NP_000262.2 O15118 duplication intron GRCh37 21124907 21124908 Chr18(GRCh37):g.21124908dup 1947+16 1947+16 NM_000271.4:c.1947+16dup p.? p.? 12 12 607623 16 5' 85.7103 8.69415 0.995595 5.65019 85.7103 8.69415 0.995595 5.54937 0 rs55809701 yes no Frequency/1000G 2 benign 0.000000 0 0.160343 0.186100 0.201400 0.083300 0.178900 0.138300 RCV000174229.1 germline|germline clinical testing|clinical testing Benign 2 not specified G 255 Pass . . . . . 0.19 0.16 0.14 0.083 0.18 0.2 . . . . . 0.6875 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Benign RCV000174229.1 not_specified MedGen CN169374 2 . . . 32 . . INTRON(MODIFIER||||NPC1|mRNA|CODING|NM_000271|) 0.25 0.2 0.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000141458 NPC1 NPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3837910 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.198965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.25 . rs55809701 rs55809701 rs55809701 1 1538 10 1.I 0,11,16 +rs276936 18 28611139 A C - DSC3 3037 Desmocollin 3 NM_001941.4 -1 7656 2691 NP_001932.2 Q14574 substitution splice site GRCh37 28611139 28611139 Chr18(GRCh37):g.28611139A>C 155-1 155-1 NM_001941.4:c.155-1T>G p.? p.? 3 2 600271 -1 3' 0 0 0 0 91.8472 5.53691 0.852814 4.37835 1 New Acceptor Site 28611138 5.53691 0.852814 91.8472 rs276936 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999956 0.999958 1.000000 1.000000 1.000000 1.000000 0.999911 1.000000 1.000000 1.000000 270188 23809 33496 9842 18392 28890 123791 25634 6334 270200 23810 33496 9842 18392 28890 123802 25634 6334 0.999911 0.999916 1.000000 1.000000 1.000000 1.000000 0.999822 1.000000 1.000000 135088 11904 16748 4921 9196 14445 61890 12817 3167 12 1 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 1 0 1 8593 4406 12999 0.00011636 0 7.69231e-05 0.999884 1 0.999923 24 RCV000454815.1 germline clinical testing Benign 1 not specified transversion T G T>G 0.992 1.577 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 44.0 . . . 1. 1. 1. 1. 1. 1. . 0.3541 . . . . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1.0000 1 1 . . . . . . splicing splicing splicing . . . 0.0000 . . . 0.29 0.29 182 ENSG00000134762 DSC3 DSC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs276936 1.000 1.000 . . . . . 1.0 1.0 1.0 1.0 1.0 13.4971 1.0 . V.21 IV.33 . . . . . Name\x3dnsv833613 0.999923 . . . . IV.33 0.9999 1.0000 1 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . 0.777 0.777000 . . . . . 1.0E-111 . . . . . . . . . 0.777 . 1. rs276936 rs276936 rs276936 rs276936 1 1538 255 1.I 0,0,255 +rs142563540 18 28956809 G A - DSG1-AS1 51115 DSG1 antisense RNA 1 NR_110788.1 -1 730 0 substitution intron GRCh37 28956809 28956809 Chr18(GRCh37):g.28956809G>A 157-22393 157-22393 NR_110788.1:n.157-22393C>T p.? p.? 2 1 -22393 3' 81.2416 8.18569 0.842492 4.26168 81.2416 8.18569 0.842492 4.26168 0 Cryptic Acceptor Weakly Activated 28956792 6.51873 0.658055 87.2462 VI.34 0.770104 87.2462 rs142563540 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.009900 0.000000 0.003713 0.000343 0.000000 0.000000 0.000000 0.000000 0.005798 0.006297 0.003055 0.006297 115 3 0 0 0 0 87 22 3 30974 8736 838 302 1618 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 3 0 0 0 0 87 22 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes 3164 1383 4547 18 1 19 0.00565682 0.000722543 0.00416119 0.00565682 0.000722543 0.00416119 70 RCV000269698.1 germline clinical testing VUS 1 Localized AR Hypotrichosis transition C T C>T 0.000 -0.279 255 PASS . 0.0041 . . 0.01 . 0.002 . . 0.0099 . . . . . . 0.3382353 . . germline 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000269698.1 Localized_AR_Hypotrichosis MedGen CN239201 2 . . . 68.0 . . . 0.0007 0.0042 0.0057 0.0007 0.0042 0.0057 . 0.2377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR5 ncRNA_intronic . . . 0.0020 . . . 0.57 0.57 182 ENSG00000266729 DSG4 DSG1-AS1 . . . . . . 203 0.00312423 64976 193 0.00321742 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142563540 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004161 . . . . . . . . . . . . . . 0.0003 0.0037 0 0 0 0.0063 0.0058 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs142563540 rs142563540 1 1538 10 1/0 0,255,255 +rs142563540 18 28956809 G A - DSG4 21307 Desmoglein 4 NM_001134453.2 1 4629 3180 NP_001127925.1 substitution 5'UTR GRCh37 28956809 28956809 Chr18(GRCh37):g.28956809G>A -66 -66 NM_001134453.2:c.-66G>A p.? p.? 1 607892 -114 5' 91.1822 11.0134 0.995931 5.01561 91.1822 11.0134 0.995931 5.01561 0 rs142563540 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.009900 0.000000 0.003713 0.000343 0.000000 0.000000 0.000000 0.000000 0.005798 0.006297 0.003055 0.006297 115 3 0 0 0 0 87 22 3 30974 8736 838 302 1618 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 3 0 0 0 0 87 22 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes 3164 1383 4547 18 1 19 0.00565682 0.000722543 0.00416119 0.00565682 0.000722543 0.00416119 70 RCV000269698.1 germline clinical testing VUS 1 Localized AR Hypotrichosis transition G A G>A 0.000 -0.279 255 PASS . 0.0041 . . 0.01 . 0.002 . . 0.0099 . . . . . . 0.3382353 . . germline 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000269698.1 Localized_AR_Hypotrichosis MedGen CN239201 2 . . . 68.0 . . . 0.0007 0.0042 0.0057 0.0007 0.0042 0.0057 . 0.2377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR5 ncRNA_intronic . . . 0.0020 . . . 0.57 0.57 182 ENSG00000266729 DSG4 DSG1-AS1 . . . . . . 203 0.00312423 64976 193 0.00321742 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142563540 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004161 . . . . . . . . . . . . . . 0.0003 0.0037 0 0 0 0.0063 0.0058 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs142563540 rs142563540 1 1538 10 1/0 0,255,255 +rs3859364 18 29339910 G T - SLC25A52 23324 Solute carrier family 25, member 52 NM_001034172.2 -1 1185 924 NP_001029344.3 substitution missense exon GRCh37 29339910 29339910 Chr18(GRCh37):g.29339910G>T 745 745 NM_001034172.2:c.745C>A p.Leu249Ile p.Leu249Ile 1 616153 Mitochondrial substrate/solute carrier rs3859364 yes no Frequency/1000G 2 T 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999964 0.999958 1.000000 1.000000 1.000000 1.000000 0.999929 1.000000 1.000000 1.000000 276514 23923 34404 10134 18860 30768 126177 25792 6456 276524 23924 34404 10134 18860 30768 126186 25792 6456 0.999928 0.999916 1.000000 1.000000 1.000000 1.000000 0.999857 1.000000 1.000000 138252 11961 17202 5067 9430 15384 63084 12896 3228 10 1 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 1 0 1 8587 4406 12993 0.000116442 0 7.69586e-05 0.999884 1 0.999923 28 COSM4130950 Thyroid 0.001339 747 transversion C A C>A 0.992 0.690 L Leu CTA 0.070 I Ile ATA 0.163 249 15 1 2 2 2 0 0 4.IX 5.II 111 111 5 C0 14.30 0.00 Tolerated 0.47 III.33 good 4.675E-2 0.0001585 111 PASS 0.99 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . SLC25A52:uc002kxa.3:exon1:c.C745A:p.L249I SLC25A52:NM_001034172:exon1:c.C745A:p.L249I . . 1.0 . . @ 83 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.196 . @ . . . . . 1 0.131 . . 83.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cta/Ata|L249I|SLC25A52|mRNA|CODING|NM_001034172|NM_001034172.ex.1) 1. 1. 1. 1. 1. 1. . -1.1679 -1.130 -1.168 c . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.837 . . exonic exonic exonic . . 0.202 0.0000 . . . 0.22 0.16 182 ENSG00000141437 SLC25A52 SLC25A52 . . . 0.283 0.190 . . . . . . . Benign . 0 . 0.250 . . . . . . . . . 37 . 0.000 . . 0.441 . . . 0.194 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.026 . . 0.104 . . . . . . 0 0.127 . . . . . 0.158 . 0.065 . HOM 0.45 rs3859364 1.000 1.000 . . . . . 0.9972527472527473 0.991869918699187 1.0 0.9965034965034965 1.0 V.53 1.0 . I.22 I.22 . 1.000000 Q3SY17 . . . 0.999923 . 0.091 . . . 0.9999 1.0000 1 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 0.9999 1 . . 0.133 . -0.011 -0.011000 . . 1.000000 . . 1.0E-111 1.000 0.715 . 0.403 0.976 . 0.452 . 0.088 -0.011 -1.542 1. rs3859364 rs3859364 rs3859364 rs3859364 1 1538 255 1.I 0,0,255 +rs142615973 18 33077807 G C - INO80C 26994 INO80 complex subunit C NM_001098817.1 -1 1088 687 NP_001092287.1 substitution missense exon GRCh37 33077807 33077807 Chr18(GRCh37):g.33077807G>C 32 32 NM_001098817.1:c.32C>G p.Thr11Ser p.Thr11Ser 1 -125 5' 83.4361 10.1166 0.971086 8.49542 83.4361 10.1166 0.971086 8.49542 0 New Acceptor Site 33077806 3.45048 0.062269 71.4466 rs142615973 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.002000 0.000000 0.008000 0.004300 0.004577 0.000881 0.003741 0.001345 0.000060 0.011454 0.005463 0.000629 0.005397 0.011454 1207 20 121 13 1 342 661 16 33 263686 22710 32340 9662 16556 29858 120994 25452 6114 0.000068 0.000000 0.000000 0.000000 0.000000 0.000469 0.000033 0.000000 0.000000 9 0 0 0 0 7 2 0 0 1189 20 121 13 1 328 657 16 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4397 12946 51 9 60 0.00593023 0.00204267 0.00461326 0.00593023 0.00204267 0.00461326 33 COSM215741 Central nervous system 0.000416 2405 transversion C G C>G 0.024 1.416 T Thr ACT 0.243 S Ser AGT 0.149 11 12 7 Dog 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.43 III.80 good 8.443E-1 0.0001084 255 PASS . 0.0032 0.01 . 0.01 . 0.0026 0.0043 . 0.008 0.002 . . . . . 0.48192772 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.216 . @ . . . . . 1 0.210 . . 83.0 . . . 0.002 0.0046 0.0059 0.002 0.0046 0.0059 . -0.7314 -0.561 -0.731 c . . . . . 4.752e-03 . . . 0.0011 0.0059 0.0044 0 0.0003 0.0065 0.0029 0.0124 0.0009 0.0047 0.0045 0 0.0005 0.0045 0.0030 0.0124 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.417 0.0026 . . . 0.31 0.35 182 . INO80C INO80C . . . 1.000 0.747 . 305 0.00469404 64976 292 0.0048678 59986 Uncertain_significance . 0 . 0.204 . . . . . . . . . 37 . 0.096 . . 0.224 . . . 0.297 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.131 . . 0.145 . . . . . . 0 0.180 . . . . . 0.438 . 0.086 . HET 0 rs142615973 . . . . . . ID\x3dCOSM215741\x3bOCCURENCE\x3d1(central_nervous_system) 0.003205128205128205 0.0 0.008287292817679558 0.0 0.005277044854881266 X.91 0.002675 . IV.61 III.72 . 0.740000 . . . . 0.004613 . 0.089 . . III.72 0.0011 0.0047 0.0037 0.0014 6.695e-05 0.0007 0.0054 0.0058 0.0115 0.0006 0.0035 0.0048 0 0 0.0003 0.0063 0.0031 . . 0.072 . 1.288 1.288000 . . 0.740000 . . 1.0E-255 0.966 0.337 . 0.625 0.872 . 0.443 . 0.713 1.288 0.917 0.01 . . rs142615973 rs142615973 1 1538 10 1/0 0,255,255 +rs751315944 18 44543085 T C - ELOA3D 33511 Elongin A3 family member D NM_001242907.1 -1 1877 1641 NP_001229836.1 A6NLF2 substitution synonymous exon GRCh37 44543085 44543085 Chr18(GRCh37):g.44543085T>C 1287 1287 NM_001242907.1:c.1287A>G p.Val429= p.Val429Val 1 RNA polymerase II transcription factor SIII, subunit A rs751315944 yes no Frequency 1 T 0.000000 0 0.001941 0.030346 0.000651 0.000000 0.000000 0.000071 0.000050 0.000000 0.002274 0.030346 190 172 9 0 0 1 2 0 6 97892 5668 13816 4504 9494 14006 40120 7646 2638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 190 172 9 0 0 1 2 0 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 0.690 V Val GTA 0.114 V Val GTG 0.468 429 255 PASS . . . . . . . . . . . ENSG00000266996:ENST00000591973:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujk.1:exon1:c.A1287G:p.V429V . . . 0.72077924 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.1435 . . . . . . . . 9.470e-04 . . . 0.1294 0.0062 0.0035 0 0 0 0.0161 0 0.1325 0.0051 0.0038 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.38 182 ENSG00000266996 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs751315944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0283 0.0013 0.0007 0 0 0 3.113e-05 0.0024 7.14e-05 0.0329 0.0057 0 0 0 0 0.0001 0.0019 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs79588034 1 1538 10 1/0 0,248,246 +rs751315944 18 44543085 T C - KATNAL2 25387 Katanin catalytic subunit A1 like 2 NM_001353899.1 1 3426 1695 NP_001340828.1 substitution intron GRCh37 44543085 44543085 Chr18(GRCh37):g.44543085T>C 129+16199 129+16199 NM_001353899.1:c.129+16199T>C p.? p.? 3 3 614697 16199 5' 83.0123 9.63235 0.972253 3.42865 83.0123 9.63235 0.972253 3.42865 0 rs751315944 yes no Frequency 1 T 0.000000 0 0.001941 0.030346 0.000651 0.000000 0.000000 0.000071 0.000050 0.000000 0.002274 0.030346 190 172 9 0 0 1 2 0 6 97892 5668 13816 4504 9494 14006 40120 7646 2638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 190 172 9 0 0 1 2 0 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.690 255 PASS . . . . . . . . . . . ENSG00000266996:ENST00000591973:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujk.1:exon1:c.A1287G:p.V429V . . . 0.72077924 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.1435 . . . . . . . . 9.470e-04 . . . 0.1294 0.0062 0.0035 0 0 0 0.0161 0 0.1325 0.0051 0.0038 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.38 182 ENSG00000266996 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs751315944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0283 0.0013 0.0007 0 0 0 3.113e-05 0.0024 7.14e-05 0.0329 0.0057 0 0 0 0 0.0001 0.0019 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs79588034 1 1538 10 1/0 0,248,246 +rs201366170 18 44549012 T C - ELOA3B 31007 Elongin A3 family member B NM_001100817.2 -1 1641 1641 NP_001094287.2 Q3SY89 substitution downstream GRCh37 44549012 44549012 Chr18(GRCh37):g.44549012T>C *5561 *5561 NM_001100817.2:c.*5561A>G p.? p.? 1 RNA polymerase II transcription factor SIII, subunit A rs201366170 yes no Frequency 1 T 0.000000 0 0.003271 0.011063 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001695 0.011063 62 61 0 0 0 0 0 0 1 18956 5514 646 124 1242 0 8856 1984 590 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 61 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition A G A>G 0.008 0.448 255 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujl.1:exon1:c.A1287G:p.V429V . . . 0.647541 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.0197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.36 182 ENSG00000234298 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201366170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0033 0 0 0 0 0 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs201366170 1 1538 10 1/0 0,255,255 +rs201366170 18 44549012 T C - ELOA3C 52410 Elongin A3 family member C NM_001354366.1 -1 1641 1641 NP_001341295.1 Q8NG57 substitution synonymous exon GRCh37 44549012 44549012 Chr18(GRCh37):g.44549012T>C 1287 1287 NM_001354366.1:c.1287A>G p.Val429= p.Val429Val 1 rs201366170 yes no Frequency 1 T 0.000000 0 0.003271 0.011063 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001695 0.011063 62 61 0 0 0 0 0 0 1 18956 5514 646 124 1242 0 8856 1984 590 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 61 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition A G A>G 0.008 0.448 V Val GTA 0.114 V Val GTG 0.468 429 255 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujl.1:exon1:c.A1287G:p.V429V . . . 0.647541 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.0197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.36 182 ENSG00000234298 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201366170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0033 0 0 0 0 0 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs201366170 1 1538 10 1/0 0,255,255 +rs201366170 18 44549012 T C - KATNAL2 25387 Katanin catalytic subunit A1 like 2 NM_001353899.1 1 3426 1695 NP_001340828.1 substitution intron GRCh37 44549012 44549012 Chr18(GRCh37):g.44549012T>C 129+22126 129+22126 NM_001353899.1:c.129+22126T>C p.? p.? 3 3 614697 22126 5' 83.0123 9.63235 0.972253 3.42865 83.0123 9.63235 0.972253 3.42865 0 rs201366170 yes no Frequency 1 T 0.000000 0 0.003271 0.011063 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001695 0.011063 62 61 0 0 0 0 0 0 1 18956 5514 646 124 1242 0 8856 1984 590 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 61 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 0.008 0.448 255 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujl.1:exon1:c.A1287G:p.V429V . . . 0.647541 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.0197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.36 182 ENSG00000234298 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201366170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0033 0 0 0 0 0 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs201366170 1 1538 10 1/0 0,255,255 +. 18 44549175 G A - ELOA3B 31007 Elongin A3 family member B NM_001100817.2 -1 1641 1641 NP_001094287.2 Q3SY89 substitution downstream GRCh37 44549175 44549175 Chr18(GRCh37):g.44549175G>A *5398 *5398 NM_001100817.2:c.*5398C>T p.? p.? 1 RNA polymerase II transcription factor SIII, subunit A transition C T C>T 0.488 0.932 111 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.C1124T:p.P375L TCEB3CL2:uc021ujl.1:exon1:c.C1124T:p.P375L . . . 1.0 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.185 . . 27.0 . . . . . . . . . . -1.5789 -1.438 -1.579 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.219 @ . . . 0.36 0.39 182 ENSG00000234298 TCEB3CL2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . T 0.137 0.005 . . 37 . 0.011 . . 0.429 . . . 0.000 0.351 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 . . . . . . 0.133 . 0.374 . HOM 1 . 0.174 0.174 . . . . . . . . . . IV.49 . ENST00000451265 1.V 1.V . 1.000000 Q3SY89 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.086 0.086000 . . 1.000000 . . 1.0E-111 0.882 0.308 . 0.043 0.003 . 0.225 . 0.114 0.086 -1.805 0.17 . rs71238563 rs2261291 rs2261291 1 1538 255 1.I 0,0,255 +. 18 44549175 G A - ELOA3C 52410 Elongin A3 family member C NM_001354366.1 -1 1641 1641 NP_001341295.1 Q8NG57 substitution missense exon GRCh37 44549175 44549175 Chr18(GRCh37):g.44549175G>A 1124 1124 NM_001354366.1:c.1124C>T p.Pro375Leu p.Pro375Leu 1 transition C T C>T 0.488 0.932 P Pro CCG 0.115 L Leu CTG 0.404 375 12 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 240.02 0.00 Tolerated 1 II.69 111 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.C1124T:p.P375L TCEB3CL2:uc021ujl.1:exon1:c.C1124T:p.P375L . . . 1.0 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.185 . . 27.0 . . . . . . . . . . -1.5789 -1.438 -1.579 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.219 @ . . . 0.36 0.39 182 ENSG00000234298 TCEB3CL2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . T 0.137 0.005 . . 37 . 0.011 . . 0.429 . . . 0.000 0.351 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 . . . . . . 0.133 . 0.374 . HOM 1 . 0.174 0.174 . . . . . . . . . . IV.49 . ENST00000451265 1.V 1.V . 1.000000 Q3SY89 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.086 0.086000 . . 1.000000 . . 1.0E-111 0.882 0.308 . 0.043 0.003 . 0.225 . 0.114 0.086 -1.805 0.17 . rs71238563 rs2261291 rs2261291 1 1538 255 1.I 0,0,255 +. 18 44549175 G A - KATNAL2 25387 Katanin catalytic subunit A1 like 2 NM_001353899.1 1 3426 1695 NP_001340828.1 substitution intron GRCh37 44549175 44549175 Chr18(GRCh37):g.44549175G>A 129+22289 129+22289 NM_001353899.1:c.129+22289G>A p.? p.? 3 3 614697 22289 5' 83.0123 9.63235 0.972253 3.42865 83.0123 9.63235 0.972253 3.42865 0 New Acceptor Site 44549177 7.02146 0.289012 76.8215 transition G A G>A 0.488 0.932 111 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.C1124T:p.P375L TCEB3CL2:uc021ujl.1:exon1:c.C1124T:p.P375L . . . 1.0 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.185 . . 27.0 . . . . . . . . . . -1.5789 -1.438 -1.579 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.219 @ . . . 0.36 0.39 182 ENSG00000234298 TCEB3CL2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . T 0.137 0.005 . . 37 . 0.011 . . 0.429 . . . 0.000 0.351 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 . . . . . . 0.133 . 0.374 . HOM 1 . 0.174 0.174 . . . . . . . . . . IV.49 . ENST00000451265 1.V 1.V . 1.000000 Q3SY89 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.086 0.086000 . . 1.000000 . . 1.0E-111 0.882 0.308 . 0.043 0.003 . 0.225 . 0.114 0.086 -1.805 0.17 . rs71238563 rs2261291 rs2261291 1 1538 255 1.I 0,0,255 +rs368541577 18 44555018 T G - ELOA3B 31007 Elongin A3 family member B NM_001100817.2 -1 1641 1641 NP_001094287.2 Q3SY89 substitution missense exon GRCh37 44555018 44555018 Chr18(GRCh37):g.44555018T>G 1196 1196 NM_001100817.2:c.1196A>C p.Gln399Pro p.Gln399Pro 1 rs368541577 yes no Frequency 1 T 0.000000 0 0.003492 0.000735 0.001434 0.003406 0.000000 0.000518 0.004022 0.010696 0.004265 0.010696 754 14 32 28 0 12 421 225 22 215912 19042 22314 8220 12324 23146 104672 21036 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 754 14 32 28 0 12 421 225 22 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 6997 3538 10535 9 2 11 0.00128461 0.000564972 0.00104305 0.00128461 0.000564972 0.00104305 51 transversion A C A>C 0.850 -0.117 Q Gln CAG 0.744 P Pro CCG 0.115 399 12 1 -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C0 241.31 38.84 Deleterious 0.01 II.72 182 PASS . . . . . . . . . . . ENSG00000183791:ENST00000330682:exon1:c.A1196C:p.Q399P TCEB3C:uc010xdb.2:exon1:c.A1196C:p.Q399P . . . 0.11653116 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.015 . . 738.0 . . . 0.0006 0.001 0.0013 0.0006 0.001 0.0013 . -0.9096 -1.193 -0.910 c . . . . . 5.050e-03 . . . 0.0018 0.0044 0.0017 0 0.0213 0.0054 0.0038 0.0015 0.0018 0.0055 0.0018 0 0.0206 0.0064 0.0040 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.051 @ . . . 0.37 0.39 182 ENSG00000183791 TCEB3C . . . . 0.006 0.112 . . . . . . . Likely_benign . 0 . 0.151 . . . . . . . . . 37 . 0.347 . . 0.344 . . . 0.583 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . 0.592 . . 0.486 . . . . . . 2 0.682 . . . . . 0.493 . . . LowAF 0.01 rs368541577 . . . . . . . . . . . . XI.25 9.97E-4 ENST00000330682 I.52 -3.03 . 0.000000 Q8NG57 . . . 0.001043 . 0.157 . . . 0.0007 0.0034 0.0015 0.0034 0 0.0104 0.0039 0.0025 0.0005 0.0008 0.0046 0 0.0047 0 0.0127 0.0048 0.0140 . . 0.283 . -1.458 -1.458000 . . 0.000000 . . 1.0E-182 0.812 0.296 . 0.135 0.014 . 0.365 . 0.073 -1.458 -1.861 0.0013 . . rs368541577 rs368541577 1 1538 10 1/0 0,141,246 +rs368541577 18 44555018 T G - KATNAL2 25387 Katanin catalytic subunit A1 like 2 NM_001353899.1 1 3426 1695 NP_001340828.1 substitution intron GRCh37 44555018 44555018 Chr18(GRCh37):g.44555018T>G 130-17810 130-17810 NM_001353899.1:c.130-17810T>G p.? p.? 4 3 614697 -17810 3' 86.4423 9.14058 0.965488 8.86086 86.4423 9.14058 0.965488 8.86086 0 rs368541577 yes no Frequency 1 T 0.000000 0 0.003492 0.000735 0.001434 0.003406 0.000000 0.000518 0.004022 0.010696 0.004265 0.010696 754 14 32 28 0 12 421 225 22 215912 19042 22314 8220 12324 23146 104672 21036 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 754 14 32 28 0 12 421 225 22 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 6997 3538 10535 9 2 11 0.00128461 0.000564972 0.00104305 0.00128461 0.000564972 0.00104305 51 transversion T G T>G 0.850 -0.117 182 PASS . . . . . . . . . . . ENSG00000183791:ENST00000330682:exon1:c.A1196C:p.Q399P TCEB3C:uc010xdb.2:exon1:c.A1196C:p.Q399P . . . 0.11653116 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.015 . . 738.0 . . . 0.0006 0.001 0.0013 0.0006 0.001 0.0013 . -0.9096 -1.193 -0.910 c . . . . . 5.050e-03 . . . 0.0018 0.0044 0.0017 0 0.0213 0.0054 0.0038 0.0015 0.0018 0.0055 0.0018 0 0.0206 0.0064 0.0040 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.051 @ . . . 0.37 0.39 182 ENSG00000183791 TCEB3C . . . . 0.006 0.112 . . . . . . . Likely_benign . 0 . 0.151 . . . . . . . . . 37 . 0.347 . . 0.344 . . . 0.583 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . 0.592 . . 0.486 . . . . . . 2 0.682 . . . . . 0.493 . . . LowAF 0.01 rs368541577 . . . . . . . . . . . . XI.25 9.97E-4 ENST00000330682 I.52 -3.03 . 0.000000 Q8NG57 . . . 0.001043 . 0.157 . . . 0.0007 0.0034 0.0015 0.0034 0 0.0104 0.0039 0.0025 0.0005 0.0008 0.0046 0 0.0047 0 0.0127 0.0048 0.0140 . . 0.283 . -1.458 -1.458000 . . 0.000000 . . 1.0E-182 0.812 0.296 . 0.135 0.014 . 0.365 . 0.073 -1.458 -1.861 0.0013 . . rs368541577 rs368541577 1 1538 10 1/0 0,141,246 +rs368541577 18 44555018 T G - TCEB3C 24617 Transcription elongation factor B polypeptide 3C (elongin A3) NM_145653.3 -1 1877 1641 NP_663628.2 Q8NG57 substitution missense exon GRCh37 44555018 44555018 Chr18(GRCh37):g.44555018T>G 1196 1196 NM_145653.3:c.1196A>C p.Gln399Pro p.Gln399Pro 1 RNA polymerase II transcription factor SIII, subunit A rs368541577 yes no Frequency 1 T 0.000000 0 0.003492 0.000735 0.001434 0.003406 0.000000 0.000518 0.004022 0.010696 0.004265 0.010696 754 14 32 28 0 12 421 225 22 215912 19042 22314 8220 12324 23146 104672 21036 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 754 14 32 28 0 12 421 225 22 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 6997 3538 10535 9 2 11 0.00128461 0.000564972 0.00104305 0.00128461 0.000564972 0.00104305 51 transversion A C A>C 0.850 -0.117 Q Gln CAG 0.744 P Pro CCG 0.115 399 16 4 Ciona intestinalis -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C0 241.31 40.46 Deleterious 0.01 II.46 182 PASS . . . . . . . . . . . ENSG00000183791:ENST00000330682:exon1:c.A1196C:p.Q399P TCEB3C:uc010xdb.2:exon1:c.A1196C:p.Q399P . . . 0.11653116 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.015 . . 738.0 . . . 0.0006 0.001 0.0013 0.0006 0.001 0.0013 . -0.9096 -1.193 -0.910 c . . . . . 5.050e-03 . . . 0.0018 0.0044 0.0017 0 0.0213 0.0054 0.0038 0.0015 0.0018 0.0055 0.0018 0 0.0206 0.0064 0.0040 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.051 @ . . . 0.37 0.39 182 ENSG00000183791 TCEB3C . . . . 0.006 0.112 . . . . . . . Likely_benign . 0 . 0.151 . . . . . . . . . 37 . 0.347 . . 0.344 . . . 0.583 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . 0.592 . . 0.486 . . . . . . 2 0.682 . . . . . 0.493 . . . LowAF 0.01 rs368541577 . . . . . . . . . . . . XI.25 9.97E-4 ENST00000330682 I.52 -3.03 . 0.000000 Q8NG57 . . . 0.001043 . 0.157 . . . 0.0007 0.0034 0.0015 0.0034 0 0.0104 0.0039 0.0025 0.0005 0.0008 0.0046 0 0.0047 0 0.0127 0.0048 0.0140 . . 0.283 . -1.458 -1.458000 . . 0.000000 . . 1.0E-182 0.812 0.296 . 0.135 0.014 . 0.365 . 0.073 -1.458 -1.861 0.0013 . . rs368541577 rs368541577 1 1538 10 1/0 0,141,246 +rs117990275 18 48991634 T C - LINC01630 52295 Long intergenic non-protein coding RNA 1630 NR_040075.1 1 3188 0 substitution intron GRCh37 48991634 48991634 Chr18(GRCh37):g.48991634T>C 217-143 217-143 NR_040075.1:n.217-143T>C p.? p.? 2 1 -143 3' 81.7638 6.23529 0.971001 5.22233 81.7638 6.23529 0.971001 5.22233 0 rs117990275 no no 0 T 0.000000 0 0.001035 0.000722 0.003937 0.000000 0.001250 0.000000 0.001163 0.000306 0.002212 0.003937 29 6 3 0 2 0 15 1 2 28008 8308 762 268 1600 0 12902 3264 904 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 6 3 0 2 0 15 1 2 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transition T C T>C 0.000 0.770 229 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . 0.1684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.32 0.21 182 ENSG00000227115 LOC100287225 LOC100287225 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117990275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.32 . . . . . . . . . 0.0007 0.0010 0.0039 0 0.0013 0.0003 0.0012 0.0022 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs117990275 rs117990275 1 1538 10 1/0 0,255,255 +. 18 52585077 AC A - CCDC68 24350 Coiled-coil domain containing 68 NM_025214.2 -1 4132 1008 NP_079490.1 Q9H2F9 deletion intron GRCh37 52585077 52585077 Chr18(GRCh37):g.52585077del 873+67 873+67 NM_025214.2:c.873+67del p.? p.? 10 10 616909 67 5' 94.9812 11.083 0.998499 0 94.9812 11.083 0.998499 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24256 6436 712 204 1584 0 11368 3170 782 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 53 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.85714287 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000166510 CCDC68 CCDC68 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,7 +rs192075715 18 53177742 A G - TCF4 11634 Transcription factor 4 NM_001243226.2 -1 8122 2322 NP_001230155.2 substitution intron GRCh37 53177742 53177742 Chr18(GRCh37):g.53177742A>G 452-46374 452-46374 NM_001243226.2:c.452-46374T>C p.? p.? 5 4 602272 -46374 3' 79.7637 11.1321 0.959464 5.29215 79.7637 11.1321 0.959464 5.29215 0 rs192075715 yes no Frequency/1000G 2 A 0.000000 0 0.002995 0.000000 0.005100 0.000000 0.008000 0.002900 0.003618 0.001145 0.001196 0.000000 0.000000 0.000000 0.006137 0.000859 0.006110 0.006137 112 10 1 0 0 0 92 3 6 30960 8736 836 302 1618 0 14992 3494 982 0.008929 0.000000 0.000000 0.000000 0.000000 0.000000 0.010870 0.000000 0.000000 1 0 0 0 0 0 1 0 0 110 10 1 0 0 0 90 3 6 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.000 -0.682 255 PASS . 0.0032 0.01 . 0.01 . 0.003 0.0029 . 0.008 0.0051 . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . 0.5081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.14 0.29 182 ENSG00000196628 TCF4 TCF4 . . . . . . 490 0.00754125 64976 476 0.00793518 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192075715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0036 0.0012 0 0 0.0009 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs192075715 rs192075715 1 1538 10 1/0 0,255,255 +. 18 56402637 C G - MALT1 6819 Mucosa associated lymphoid tissue lymphoma translocation gene 1 NM_006785.3 1 5030 2475 NP_006776.1 Q9UDY8 substitution intron GRCh37 56402637 56402637 Chr18(GRCh37):g.56402637C>G 1603+76 1603+76 NM_006785.3:c.1603+76C>G p.? p.? 13 13 604860 76 5' 82.2129 8.37568 0.903232 0 82.2129 8.37568 0.903232 0 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30972 8728 838 302 1622 0 15008 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion C G C>G 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.0925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000267476 MALT1 MALT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.229e-05 0 0 0 0 6.663e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs117312762 (chr18:58284909 T/C) 18 58284909 T C Not on a known gene +rs563696641 18 60190881 C G - ZCCHC2 22916 Zinc finger, CCHC domain containing 2 NM_017742.5 1 5543 3537 NP_060212.4 Q9C0B9 substitution missense exon GRCh37 60190881 60190881 Chr18(GRCh37):g.60190881C>G 224 224 NM_017742.5:c.224C>G p.Ala75Gly p.Ala75Gly 1 -716 5' 94.9812 11.083 0.998132 13.0885 94.9812 11.083 0.998132 13.0885 0 0.000379 0.000000 0.000000 0.000000 0.000000 0.000000 0.000615 0.000000 0.002273 0.000615 11 0 0 0 0 0 9 0 2 29014 8324 974 408 1718 254 14636 1820 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 9 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.984 1.416 A Ala GCG 0.107 G Gly GGG 0.250 75 12 2 Chimp 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.13 III.55 255 PASS . . . . . . . . . . . ENSG00000141664:ENST00000269499:exon1:c.C224G:p.A75G ZCCHC2:uc002lip.4:exon1:c.C224G:p.A75G ZCCHC2:NM_017742:exon1:c.C224G:p.A75G . . 0.625 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.295 . @ . . . . . 1 0.384 . . 16.0 . . . . . . . . . . -0.7030 -0.656 -0.703 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.305 0.0002 . . . . . . ENSG00000141664 ZCCHC2 ZCCHC2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.759 0.092 . . 37 . 0.162 . . 0.065 . . . 0.065 0.229 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.140 . . 0 0 0 0 0 0 . 0.067 . . 0.127 . . . . . . 0 0.105 . . . . . 0.242 . 0.166 . HET 0 . . . . . . . . . . . . . 7.0735 . ENST00000269499 II.66 II.66 . 0.130000 Q9C0B9 . . . . . 0.162 . . II.66 0 0.0009 0 0 0 0 0 0.0244 0 0 0.0003 0 0 0 0 0.0007 0 . . 0.062 . 1.208 1.208000 . . 0.130000 . . 1.0E-255 0.639 0.278 . 0.302 0.972 . 0.332 . 0.279 1.208 0.772 . . . . . 1 1538 10 1/0 0,255,255 +rs112286914 18 61309183 G A - SERPINB4 10570 Serpin peptidase inhibitor, clade B (ovalbumin), member 4 NM_002974.3 -1 1770 1173 NP_002965.1 P48594 substitution intron GRCh37 61309183 61309183 Chr18(GRCh37):g.61309183G>A 223-61 223-61 NM_002974.3:c.223-61C>T p.? p.? 4 3 600518 -61 3' 82.6596 8.1536 0.909901 5.70474 82.6596 8.1536 0.909901 5.90219 0 rs112286914 yes no Frequency 1 G 0.000000 0 0.002198 0.000344 0.001193 0.000000 0.000000 0.000000 0.003933 0.000860 0.002037 0.003933 68 3 1 0 0 0 59 3 2 30934 8722 838 302 1598 0 15002 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 3 1 0 0 0 59 3 2 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.000 -1.005 221 PASS . . . . . . . . . . . . . . . . 0.2195122 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.2535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.28 182 ENSG00000206073 SERPINB4 SERPINB4 . . . . . . 129 0.00198535 64976 129 0.0021505 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112286914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0022 0.0012 0 0 0.0009 0.0039 0.0020 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs112286914 rs112286914 1 1538 10 1/0 0,255,255 +. 18 61449671 A G - SERPINB7 13902 Serpin peptidase inhibitor, clade B (ovalbumin), member 7 NM_001040147.2 1 1976 1143 NP_001035237.1 O75635 substitution missense exon GRCh37 61449671 61449671 Chr18(GRCh37):g.61449671A>G 65 65 NM_001040147.2:c.65A>G p.Asn22Ser p.Asn22Ser 2 603357 83 3' 85.7197 X.01 0.987661 9.24061 85.7197 X.01 0.987661 9.24061 0 Serpin domain 0.000016 0.000000 0.000030 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000030 4 0 1 0 0 0 3 0 0 246212 15304 33574 9850 17246 30780 111674 22300 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes transition A G A>G 0.354 -0.037 N Asn AAT 0.464 S Ser AGT 0.149 22 12 8 Horse 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 217.19 0.00 Tolerated 0.52 IV.32 255 PASS . . . . . . . . . . . . . . . . 0.4848485 . . @ 32 . . 1.2.2016 0 1 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.043 . @ . . . . . 1 0.182 . . 66.0 . . . . . . . . . . -1.2278 -1.175 -1.228 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.833 . . exonic exonic exonic . . 0.088 @ . . . . . . ENSG00000166396 SERPINB7 SERPINB7 . . . 0.082 0.159 . . . . . . . Likely_benign . 0 . 0.173 . . . . T 0.222 0.008 . . 37 . 0.583 . . 0.479 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.139 . . 0.149 . . . . . . 0 0.112 . . . . . 0.497 . 0.028 . HET 0.29 . . . . . . . . . . . . . XI.08 . . V.88 -1.27 . 1.000000 . . . Name\x3desv21739 . . 0.057 . . . 0 1.625e-05 2.979e-05 0 0 0 2.686e-05 0 0 . . . . . . . . . . 0.133 . -0.154 -0.154000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.444 0.751 . 0.137 . 0.251 -0.154 -0.298 . . . . . 1 1538 10 1/0 0,255,255 +. 18 66569375 C T - CCDC102B 26295 Coiled-coil domain containing 102B NM_001093729.1 1 2817 1542 NP_001087198.1 Q68D86 substitution intron GRCh37 66569375 66569375 Chr18(GRCh37):g.66569375C>T 1263+4710 1263+4710 NM_001093729.1:c.1263+4710C>T p.? p.? 8 8 4710 5' 84.8076 9.98517 0.979345 0.862634 84.8076 9.98517 0.979345 0.862634 0 Cryptic Acceptor Weakly Activated 66569382 5.44144 0.10428 80.8014 5.81668 0.157605 82.312 transition C T C>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.2718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . CCDC102B CCDC102B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs148935012 18 74968094 C T - GALR1 4132 Galanin receptor 1 NM_001480.3 1 2787 1050 NP_001471.2 P47211 substitution intron GRCh37 74968094 74968094 Chr18(GRCh37):g.74968094C>T 667-20 667-20 NM_001480.3:c.667-20C>T p.? p.? 2 1 600377 -20 3' 93.5595 7.70217 0.935888 5.93879 93.5595 8.31501 0.948935 5.74385 0.0311693 74968095 -6.59893 rs148935012 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000785 0.000542 0.000588 0.000000 0.000000 0.000000 0.001395 0.000039 0.000935 0.001395 216 13 20 0 0 0 176 1 6 275102 23978 34002 10036 18718 30052 126150 25752 6414 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 216 13 20 0 0 0 176 1 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4401 12986 15 5 20 0.00174419 0.00113482 0.00153775 0.00174419 0.00113482 0.00153775 144 transition C T C>T 0.000 -0.360 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . . . . . 0.46551725 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . INTRON(MODIFIER||||GALR1|mRNA|CODING|NM_001480|) 0.0011 0.0015 0.0017 0.0011 0.0015 0.0017 . 0.0367 . . . . . . . . 6.789e-04 . . . 0.0006 0.0007 0.0008 0 0.0003 0.0011 0 0 0.0007 0.0007 0.0008 0 0.0002 0.0010 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.14 0.22 182 ENSG00000166573 GALR1 GALR1 . . . . . . 69 0.00106193 64976 67 0.00111693 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148935012 . . . . . . . . . . . . . . . . . . . . . . . 0.001538 . . . . . 0.0007 0.0008 0.0006 0 0 4.492e-05 0.0014 0.0011 0 0.0003 0.0008 0 0 0 0 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs148935012 rs148935012 1 1538 10 1/0 0,255,255 +rs57570668 18 77221393 T C - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221393 77221393 Chr18(GRCh37):g.77221393T>C 1959+27 1959+27 NM_001278669.1:c.1959+27T>C p.? p.? 7 7 600489 27 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.01 0 rs57570668 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.732 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.0485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.25 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs57570668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs57570668 rs57570668 rs57570668 rs57570668 1 1538 10 1/0 0,245,255 +rs61529116 18 77221398 T C - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221398 77221398 Chr18(GRCh37):g.77221398T>C 1959+32 1959+32 NM_001278669.1:c.1959+32T>C p.? p.? 7 7 600489 32 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.42 0 rs61529116 yes no Frequency 1 T 0.000000 0 0.000014 0.000327 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000327 3 3 0 0 0 0 0 0 0 214468 9188 29754 9146 11994 27662 101698 20220 4806 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 87 Exomes transition T C T>C 0.000 -2.700 188 PASS . . . . . . . . . . . . . . . . 0.13235295 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.0122 . . . . . . . . 1.579e-05 . . . 0.0002 2.414e-05 0 0 0 0 0 0 0.0001 1.025e-05 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.29 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs61529116 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 1.399e-05 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . 0.033 rs61529116 rs61529116 rs61529116 rs61529116 1 1538 10 1/0 0,246,255 +rs11665172 18 77221409 G A - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221409 77221409 Chr18(GRCh37):g.77221409G>A 1959+43 1959+43 NM_001278669.1:c.1959+43G>A p.? p.? 7 7 600489 43 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.32 0 rs11665172 yes no Frequency 1 G 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.001027 0.000000 0.000000 0.000000 0.000000 0.001027 11 0 0 0 11 0 0 0 0 214272 7504 28474 8874 10714 25944 105632 21948 5182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 195 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . 0.5984 . . . . . . . . 9.475e-05 . . . 0.0004 9.68e-05 0.0001 0.0005 0 2.84e-05 0 6.771e-05 0.0005 0.0001 0.0001 0.0008 0 2.159e-05 0 6.81e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.19 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs11665172 0.130 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.067e-05 0 0 0.0010 0 0 0 0 0 5.918e-05 0 0 0.0015 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . 0.13 rs11665172 rs11665172 rs11665172 rs11665172 1 1538 10 1/0 0,247,255 +rs11662893 18 77221412 T C - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221412 77221412 Chr18(GRCh37):g.77221412T>C 1959+46 1959+46 NM_001278669.1:c.1959+46T>C p.? p.? 7 7 600489 46 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.78 0 rs11662893 yes no Frequency 1 T 0.000000 0 0.000052 0.000000 0.000000 0.000000 0.001070 0.000000 0.000000 0.000000 0.000000 0.001070 11 0 0 0 11 0 0 0 0 209680 6958 27940 8586 10282 25154 103890 21786 5084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.279 196 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . 0.4919 . . . . . . . . 9.475e-05 . . . 0.0004 9.981e-05 0.0001 0.0006 0 2.913e-05 0 6.923e-05 0.0005 0.0001 0.0001 0.0008 0 2.207e-05 0 6.964e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.12 0.21 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11662893 0.141 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.186e-05 0 0 0.0010 0 0 0 0 0 5.937e-05 0 0 0.0015 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . 0.14 rs11662893 rs11662893 rs11662893 rs11662893 1 1538 10 1/0 0,253,255 +rs61030231 18 77221420 C G - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221420 77221420 Chr18(GRCh37):g.77221420C>G 1959+54 1959+54 NM_001278669.1:c.1959+54C>G p.? p.? 7 7 600489 54 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.22 0 New Donor Site 77221419 2.20553 0.028975 71.2708 rs61030231 yes no Frequency/1000G 2 C 0.000000 0 transversion C G C>G 0.024 1.658 211 PASS 0.28 0.17 0.12 0.22 0.08 . . . . . . . . . . . 0.1904762 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . 0.7204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.24 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61030231 0.163 0.123 . . . . . . . . . . . . . . . . . . . . . . . . . . II.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.28 rs61030231 rs61030231 rs61030231 rs61030231 1 1538 10 1/0 0,255,255 +rs149224075 18 77464913 C T - CTDP1 2498 CTD phosphatase subunit 1 NM_004715.4 1 3753 2886 NP_004706.3 Q9Y5B0 substitution synonymous exon GRCh37 77464913 77464913 Chr18(GRCh37):g.77464913C>T 768 768 NM_004715.4:c.768C>T p.Ile256= p.Ile256Ile 5 604927 -5 5' 90.1175 8.94121 0.908323 6.48938 90.1175 8.94121 0.928457 5.85942 0.00738871 Cryptic Acceptor Strongly Activated 77464918 4.0779 0.123451 72.5271 V.77 0.230903 76.0727 NLI interacting factor FCP1-like phosphatase, phosphatase domain HAD-like domain rs149224075 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000531 0.000336 0.000727 0.000000 0.000000 0.000000 0.000835 0.000080 0.000931 0.000835 146 8 25 0 0 0 105 2 6 275104 23806 34406 10116 18830 30768 125802 24930 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146 8 25 0 0 0 105 2 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8588 4403 12991 8 1 9 0.000930665 0.000227066 0.000692308 0.000930665 0.000227066 0.000692308 43 transition C T C>T 0.102 -1.328 I Ile ATC 0.481 I Ile ATT 0.356 256 255 PASS . . . . . . 0.0006 0.0014 . 0.002 . . . . . . 0.46728972 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . 0.0002 0.0007 0.0009 0.0002 0.0007 0.0009 . 0.2830 . . . . . . . . 4.658e-04 . . . 0.0004 0.0006 0.0007 0 0 0.0009 0.0014 0 0.0002 0.0004 0.0007 0 0 0.0006 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.25 0.36 182 ENSG00000060069 CTDP1 CTDP1 . . . . . . 33 0.00050788 64976 30 0.000500117 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149224075 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000692 . . . . . 0.0003 0.0005 0.0007 0 0 4.665e-05 0.0008 0.0011 0 0.0005 0.0005 0 0 0 0.0003 0.0008 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . rs73009319 rs149224075 rs149224075 1 1538 10 1/0 0,255,255 +. 19 65877 C T - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution intron GRCh37 65877 65877 Chr19(GRCh37):g.65877C>T 193+469 193+469 NR_033266.1:n.193+469G>A p.? p.? 2 2 469 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transition G A G>A 0.000 -0.682 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||WASH5P|Non-coding_transcript|NON_CODING|NR_033266|) . . . . . . . -0.4484 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.4 0.23 182 ENSG00000225373 WASH5P WASH5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs62028234 rs62028234 rs62028234 rs62028234 1 1538 10 1/0 0,255,255 +. 19 65888 C T - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution intron GRCh37 65888 65888 Chr19(GRCh37):g.65888C>T 193+458 193+458 NR_033266.1:n.193+458G>A p.? p.? 2 2 458 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 Cryptic Acceptor Strongly Activated 65877 2.4e-05 0.896121 1.3e-05 61.3977 transition G A G>A 0.000 -1.409 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||WASH5P|Non-coding_transcript|NON_CODING|NR_033266|) . . . . . . . -0.7029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.41 0.25 182 ENSG00000225373 WASH5P WASH5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs4492552 rs4492552 rs4492552 rs4492552 1 1538 10 1/0 0,255,255 +. 19 65970 T C - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution intron GRCh37 65970 65970 Chr19(GRCh37):g.65970T>C 193+376 193+376 NR_033266.1:n.193+376A>G p.? p.? 2 2 376 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transition A G A>G 0.000 -0.763 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||WASH5P|Non-coding_transcript|NON_CODING|NR_033266|) . . . . . . . -0.9935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.42 0.22 182 ENSG00000225373 WASH5P WASH5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . I.62 . ENST00000391654 0.846 -1.69 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.767 -0.767000 . . 0.000000 . . 1.0E-178 . . . . . . . . . -0.767 . . rs11266849 rs11266849 rs11266849 rs11266849 1 1538 10 1/0 0,253,255 +. 19 66394 G A - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution exon GRCh37 66394 66394 Chr19(GRCh37):g.66394G>A 145 145 NR_033266.1:n.145C>T 2 -49 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 6.90847 0 Cryptic Acceptor Strongly Activated 66380 0.762218 0.00392 72.2788 1.26595 0.005379 75.0517 transition C T C>T 0.992 2.465 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 17.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R49W|WASH5P|Non-coding_transcript|NON_CODING|NR_033266|NR_033266.ex.2) . . . . . . . 0.8152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.44 182 ENSG00000225373 WASH5P WASH5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11266852 rs11266852 rs11266852 rs11266852 1 1538 10 1/0 0,255,255 +. 19 72018 G T - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution upstream GRCh37 72018 72018 Chr19(GRCh37):g.72018G>T -1052 -1052 NR_033266.1:n.-1052C>A p.? p.? 1 -1091 5' 84.5905 9.78584 0.923771 X.78 84.5905 9.78584 0.923771 X.78 0 transversion C A C>A 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 15.0 . . . . . . . . . . -0.5612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.59 0.12 182 ENSG00000267588 . . . dist\x3d1052\x3bdist\x3d4202 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4248191 rs4248191 rs4248191 rs4248191 1 1538 10 1/0 0,255,255 +. 19 76941 G T - FAM138F 33581 Family with sequence similarity 138, member F NR_026820.1 -1 1130 0 substitution exon GRCh37 76941 76941 Chr19(GRCh37):g.76941G>T 511 511 NR_026820.1:n.511C>A 2 -56 5' 78.8739 8.00287 0.977684 0 78.8739 8.00287 0.977684 0 0 transversion C A C>A 0.803 0.690 186 PASS . . . . . . . . . . . . . . . . 0.12765957 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . . . . . . . . . -0.4979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000233630 FAM138F . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . LowAF 0.12 . . . . . . . . . . . . . . . ENST00000448235 0.7 0.7 . 0.310000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.675 0.675000 . . 0.310000 . . 1.0E-186 . . . . . . . . . 0.675 . . . . . . 1 1538 10 1/0 0,255,255 +. (chr19:156526 C/T) 19 156526 C T Not on a known gene +. (chr19:204881 A/G) 19 204881 A G Not on a known gene +rs56165058 19 613832 C G - HCN2 4846 Hyperpolarization activated cyclic nucleotide-gated potassium channel 2 NM_001194.3 1 3408 2670 NP_001185.3 Q9UL51 substitution intron GRCh37 613832 613832 Chr19(GRCh37):g.613832C>G 1826-20 1826-20 NM_001194.3:c.1826-20C>G p.? p.? 7 6 602781 -20 3' 69.7608 6.05017 0.061028 6.20858 69.7608 5.64012 0.071576 5.32958 0.0350213 rs56165058 yes no Frequency/1000G 2 C 0.000000 0 0.002995 0.000000 0.007200 0.000000 0.004000 0.005800 0.004529 0.000669 0.001859 0.000614 0.000220 0.009716 0.006290 0.001414 0.004687 0.009716 951 12 42 4 3 204 631 33 22 210000 17936 22590 6510 13614 20996 100320 23340 4694 0.000114 0.000000 0.000000 0.000000 0.000000 0.000476 0.000140 0.000000 0.000000 12 0 0 0 0 5 7 0 0 927 12 42 4 3 194 617 33 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8255 4226 12481 43 2 45 0.00518197 0.000473037 0.00359253 0.00518197 0.000473037 0.00359253 14 transversion C G C>G 0.000 -1.005 255 PASS . . . . . . 0.003 0.0058 . 0.004 0.0072 . . . . . 0.4390244 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0005 0.0036 0.0052 0.0005 0.0036 0.0052 . -0.2773 . . . . . . . . 5.228e-03 . . . 0.0010 0.0055 0.0021 0.0004 0.0011 0.0066 0.0090 0.0116 0.0007 0.0055 0.0021 0.0004 0.0013 0.0066 0.0083 0.0117 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.25 0.34 182 ENSG00000099822 HCN2 HCN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs56165058 . . . . . . . . . . . . . . . . . . . . . . . 0.003593 . . . . . 0.0010 0.0047 0.0019 0.0005 0.0003 0.0014 0.0063 0.0043 0.0097 0.0003 0.0034 0 0.0034 0 0.0017 0.0060 0.0062 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0052 rs56165058 rs56165058 rs56165058 rs56165058 1 1538 10 1/0 0,255,255 +rs56124245 19 615791 G T - HCN2 4846 Hyperpolarization activated cyclic nucleotide-gated potassium channel 2 NM_001194.3 1 3408 2670 NP_001185.3 Q9UL51 substitution splice site GRCh37 615791 615791 Chr19(GRCh37):g.615791G>T 1991-4 1991-4 NM_001194.3:c.1991-4G>T p.? p.? 8 7 602781 -4 3' 82.0658 X.15 0.886787 7.40839 82.0658 8.61212 0.879741 5.75868 -0.0613123 rs56124245 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.007200 0.000000 0.005000 0.005800 0.004925 0.000752 0.002142 0.000494 0.000160 0.010848 0.006808 0.001593 0.004376 0.010848 1357 18 73 5 3 332 857 41 28 275514 23930 34076 10126 18760 30606 125888 25730 6398 0.000094 0.000000 0.000000 0.000000 0.000000 0.000261 0.000143 0.000000 0.000000 13 0 0 0 0 4 9 0 0 1331 18 73 5 3 324 839 41 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8541 4403 12944 59 3 62 0.00686047 0.00068089 0.00476703 0.00686047 0.00068089 0.00476703 54 transversion G T G>T 0.079 -0.037 255 PASS . 0.0014 . . 0.004 . 0.0032 0.0058 . 0.005 0.0072 . . . . . 0.5405405 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . 0.0007 0.0048 0.0069 0.0007 0.0048 0.0069 . 0.1390 . . . . . . . . 5.419e-03 . . . 0.0008 0.0055 0.0021 0.0002 0.0013 0.0066 0.0072 0.0109 0.0006 0.0055 0.0021 0.0003 0.0014 0.0067 0.0072 0.0109 . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.52 0.32 182 ENSG00000099822 HCN2 HCN2 . . . . . . 348 0.00535582 64976 332 0.00553462 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs56124245 . . . . . . . . . . . . . . . . . . . . 0.0002 0.026 . 0.004767 . . . . . 0.0009 0.0051 0.0022 0.0004 0.0002 0.0016 0.0069 0.0041 0.0108 0.0005 0.0035 0 0.0033 0 0.0017 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0069 rs56124245 rs56124245 rs56124245 rs56124245 1 1538 10 1/0 0,255,255 +rs56124245 19 615791 G T - POLRMT 9200 Polymerase (RNA) mitochondrial (DNA directed) NM_005035.3 -1 3800 3693 NP_005026.3 O00411 substitution downstream GRCh37 615791 615791 Chr19(GRCh37):g.615791G>T *1483 *1483 NM_005035.3:c.*1483C>A p.? p.? 21 601778 1533 3' 88.2942 11.0152 0.964569 9.90733 88.2942 11.0152 0.964569 9.90733 0 rs56124245 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.007200 0.000000 0.005000 0.005800 0.004925 0.000752 0.002142 0.000494 0.000160 0.010848 0.006808 0.001593 0.004376 0.010848 1357 18 73 5 3 332 857 41 28 275514 23930 34076 10126 18760 30606 125888 25730 6398 0.000094 0.000000 0.000000 0.000000 0.000000 0.000261 0.000143 0.000000 0.000000 13 0 0 0 0 4 9 0 0 1331 18 73 5 3 324 839 41 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8541 4403 12944 59 3 62 0.00686047 0.00068089 0.00476703 0.00686047 0.00068089 0.00476703 54 transversion C A C>A 0.079 -0.037 255 PASS . 0.0014 . . 0.004 . 0.0032 0.0058 . 0.005 0.0072 . . . . . 0.5405405 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . 0.0007 0.0048 0.0069 0.0007 0.0048 0.0069 . 0.1390 . . . . . . . . 5.419e-03 . . . 0.0008 0.0055 0.0021 0.0002 0.0013 0.0066 0.0072 0.0109 0.0006 0.0055 0.0021 0.0003 0.0014 0.0067 0.0072 0.0109 . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.52 0.32 182 ENSG00000099822 HCN2 HCN2 . . . . . . 348 0.00535582 64976 332 0.00553462 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs56124245 . . . . . . . . . . . . . . . . . . . . 0.0002 0.026 . 0.004767 . . . . . 0.0009 0.0051 0.0022 0.0004 0.0002 0.0016 0.0069 0.0041 0.0108 0.0005 0.0035 0 0.0033 0 0.0017 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0069 rs56124245 rs56124245 rs56124245 rs56124245 1 1538 10 1/0 0,255,255 +rs61302100 19 646743 C G - RNF126 21151 Ring finger protein 126 NM_194460.2 -1 1650 936 NP_919442.1 substitution downstream GRCh37 646743 646743 Chr19(GRCh37):g.646743C>G *1385 *1385 NM_194460.2:c.*1385G>C p.? p.? 9 615177 1535 3' 67.088 5.64592 0.012831 6.44015 67.088 5.64592 0.012831 6.44015 0 rs61302100 no no 0 C 0.000000 0 0.004129 0.004366 0.000000 0.003597 0.000000 0.000000 0.004545 0.004207 0.006410 0.004545 120 34 0 1 0 0 65 14 6 29062 7788 816 278 1614 0 14302 3328 936 0.008333 0.029412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 118 32 0 1 0 0 65 14 6 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transversion G C G>C 0.016 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . . . . . . . . . -0.1478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.2 0.3 182 ENSG00000070423 RNF126 RNF126 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61302100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0041 0 0.0036 0 0.0042 0.0045 0.0064 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61302100 rs61302100 rs61302100 rs61302100 1 1538 10 1/0 0,255,255 +rs146602511 19 868105 G A - MED16 17556 Mediator complex subunit 16 NM_005481.2 -1 2924 2634 NP_005472.2 Q9Y2X0 substitution missense exon GRCh37 868105 868105 Chr19(GRCh37):g.868105G>A 2630 2630 NM_005481.2:c.2630C>T p.Pro877Leu p.Pro877Leu 16 604062 147 3' 0 3.51357 0.554546 0 0 3.51357 0.554546 0 0 Cryptic Acceptor Strongly Activated 868085 0.001207 64.6443 0.295879 0.001432 64.6443 rs146602511 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.002000 0.000000 0.006000 0.000000 0.004547 0.001116 0.001918 0.004037 0.000054 0.004737 0.007255 0.001328 0.005347 0.007255 1205 26 63 39 1 143 867 33 33 265016 23294 32842 9660 18508 30186 119510 24844 6172 0.000038 0.000000 0.000000 0.000000 0.000000 0.000199 0.000033 0.000000 0.000000 5 0 0 0 0 3 2 0 0 1195 26 63 39 1 137 863 33 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4391 12917 64 3 67 0.00745052 0.000682749 0.0051602 0.00745052 0.000682749 0.0051602 32 transition C T C>T 0.000 -1.005 P Pro CCG 0.115 L Leu CTG 0.404 877 14 4 Pig -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 0.06 IV.32 unknown 0.0 0.0 255 PASS . 0.0027 . . 0.01 . 0.0016 . . 0.006 0.002 . MED16:uc002lqd.1:exon16:c.C2630T:p.P877L MED16:NM_005481:exon16:c.C2630T:p.P877L . . 0.39130434 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.225 . @ . . . . . 1 0.115 . . 69.0 . . . 0.0007 0.0052 0.0075 0.0007 0.0052 0.0075 . -1.6791 -1.761 -1.679 c . . . . . 4.602e-03 . . . 0.0010 0.0047 0.0019 0 0.0011 0.0072 0.0079 0.0050 0.0007 0.0048 0.0019 0.0001 0.0019 0.0070 0.0049 0.0049 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.108 0.0016 . . . 0.42 0.55 182 ENSG00000175221 MED16 MED16 . . . 1.000 0.436 . . . . . . . Likely_benign . 0 . 0.045 . . . . D 0.562 0.035 . . 37 . 0.112 . . 0.216 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.912 . . . . . . . 0.091 . HET 0 rs146602511 . . . . . . . 0.0027472527472527475 0.0 0.0 0.0 0.0079155672823219 . 5.37E-4 ENST00000325464 0.652 -0.65 . 0.000000 Q9Y2X0 . . . 0.005160 . 0.132 . . . 0.0011 0.0045 0.0019 0.0041 5.922e-05 0.0012 0.0070 0.0046 0.0047 0.0011 0.0052 0.0012 0.0033 0 0.0023 0.0088 0.0092 . . 0.522 . -1.056 -1.056000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.008 . 0.029 . 0.017 -1.056 -1.095 0.01 . . rs146602511 rs146602511 1 1538 10 1/0 0,255,255 +rs191871635 19 869047 C T - MED16 17556 Mediator complex subunit 16 NM_005481.2 -1 2924 2634 NP_005472.2 Q9Y2X0 substitution intron GRCh37 869047 869047 Chr19(GRCh37):g.869047C>T 2316-101 2316-101 NM_005481.2:c.2316-101G>A p.? p.? 14 13 604062 -101 3' 83.206 XI.78 0.940525 XII.96 83.206 XI.78 0.940525 XII.96 0 rs191871635 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.002000 0.000000 0.006000 0.002900 0.005015 0.000919 0.000000 0.003311 0.000000 0.000000 0.008746 0.002296 0.007143 0.008746 155 8 0 1 0 0 131 8 7 30910 8706 838 302 1622 0 14978 3484 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 155 8 0 1 0 0 131 8 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -1.732 255 PASS . 0.0032 0.0028 . 0.01 . 0.002 0.0029 . 0.006 0.002 . . . . . 0.5945946 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||MED16|mRNA|CODING|NM_005481|) . . . . . . . -0.1397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.14 0.21 182 ENSG00000175221 MED16 MED16 . . . . . . 260 0.00400148 64976 250 0.00416764 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191871635 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0050 0 0.0033 0 0.0023 0.0087 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs191871635 rs191871635 1 1538 10 1/0 0,255,255 +rs781175964 19 900111 G A - R3HDM4 28270 R3H domain containing 4 NM_138774.3 -1 1809 807 NP_620129.2 Q96D70 substitution missense exon GRCh37 900111 900111 Chr19(GRCh37):g.900111G>A 511 511 NM_138774.3:c.511C>T p.Arg171Cys p.Arg171Cys 5 36 3' 78.3335 8.49216 0.921322 13.8394 78.3335 8.49216 0.921322 13.5614 0 rs781175964 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 0.000019 2 0 0 0 0 0 2 0 0 236554 14806 32214 9234 16804 29930 106466 21878 5222 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 46 Exomes transition C T C>T 1.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 171 11 9 Tetraodon -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 137.77 112.77 Deleterious 0.04 III.40 good 8.805E-2 0.2896 255 PASS . . . . . . . . . . . . R3HDM4:uc002lqg.2:exon5:c.C511T:p.R171C R3HDM4:NM_138774:exon5:c.C511T:p.R171C . . 0.59574467 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.945 . @ . . . . . 1 0.973 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R171C|R3HDM4|mRNA|CODING|NM_138774|NM_138774.ex.5) . . . . . . . 0.3896 0.299 0.390 c . . . . . 3.162e-05 . . . 0 2.417e-05 0 0 0 5.228e-05 0 0 0 9.996e-06 0 0 0 1.921e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.278 @ . . . . . . ENSG00000198858 R3HDM4 R3HDM4 . . . 0.997 0.350 . . . . . . . Uncertain_significance . 0 . 0.311 . . . . D 0.842 0.162 . . 37 . 0.586 . . 0.608 . . . 0.505 0.457 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.864 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.784 . . . . . 0.337 . 0.659 . HET 0 rs781175964 . . . . . . . . . . . . 8.772 . ENST00000361574 III.43 II.32 . 0.000000 Q96D70 . . . . . 0.327 . . II.32 0 8.455e-06 0 0 0 0 1.879e-05 0 0 . . . . . . . . . . 0.730 . 1.466 1.466000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.512 0.989 . 0.516 . 0.551 1.466 -0.045 . . . . . 1 1538 10 1/0 0,255,255 +. 19 991196 CGTCCCAG C - WDR18 17956 WD repeat domain 18 NM_024100.3 1 1551 1299 NP_077005.2 Q9BV38 deletion intron GRCh37 991199 991205 Chr19(GRCh37):g.991199_991205del 807-28 807-22 NM_024100.3:c.807-28_807-22del p.? p.? 7 6 -22 3' 88.1446 X.88 0.96905 13.0829 88.1446 X.88 0.96905 16.0837 0 Cryptic Donor Strongly Activated 991196 6.9e-05 47.9963 0.534902 0.012975 63.852 rs138855476 yes no Frequency/1000G 2 0.000000 0 CCCAGGT 255 Pass . . . . . . . . . . . . . . . . 0.45925927 . . . 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 135 . . INTRON(MODIFIER||||WDR18|mRNA|CODING|NM_024100|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000065268 WDR18 WDR18 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138855476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138855476 rs138855476 1 1538 10 1.I 0,12,34 +rs372784718 19 991204 G C - WDR18 17956 WD repeat domain 18 NM_024100.3 1 1551 1299 NP_077005.2 Q9BV38 substitution intron GRCh37 991204 991204 Chr19(GRCh37):g.991204G>C 807-23 807-23 NM_024100.3:c.807-23G>C p.? p.? 7 6 -23 3' 88.1446 X.88 0.96905 13.0829 88.1446 X.88 0.96905 14.0777 0 rs372784718 yes no Frequency/1000G 2 0.000000 0 0.048123 0.068800 0.065400 0.032700 0.032800 0.028800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54642 3208 10774 2422 3744 7308 20738 5130 1318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 60 Exomes transversion G C G>C 0.000 -0.117 255 PASS . . . . . 0.069 0.048 0.029 0.033 0.033 0.065 . . . . . 0.45112783 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . INTRON(MODIFIER||||WDR18|mRNA|CODING|NM_024100|) . . . . . . . 0.5311 . . . . . . . . 1.809e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0481 . . . . . . ENSG00000065268 WDR18 WDR18 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372784718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372784718 rs372784718 1 1538 10 1/0 0,245,255 +rs200303627 19 1037640 C T - CNN2 2156 Calponin 2 NM_001303501.1 1 2548 993 NP_001290430.1 substitution missense exon GRCh37 1037640 1037640 Chr19(GRCh37):g.1037640C>T 734 734 NM_001303501.1:c.734C>T p.Pro245Leu p.Pro245Leu 7 602373 17 3' 91.8398 XII.14 0.995953 15.1742 91.8398 XII.14 0.994139 15.137 -0.000607124 rs200303627 yes no Frequency 1 C 0.000000 0 0.000297 0.000804 0.000147 0.000000 0.000222 0.000000 0.000393 0.000162 0.000329 0.000804 78 16 5 0 4 0 47 4 2 262976 19910 33944 9988 18040 30658 119692 24666 6078 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 78 16 5 0 4 0 47 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 4.483 P Pro CCC 0.328 L Leu CTC 0.197 245 12 9 Zebrafish -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0 IV.32 190 PASS . . . . . . . . . . . . . . . . 0.13432837 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.516 . @ . . . . . 1 0.603 . . 201.0 . . . . . . . . . . 0.2082 0.268 0.208 c . . . . . 1.629e-03 . . . 0.0058 0.0013 0.0004 0 0.0003 0.0015 0 0 0.0060 0.0008 0.0004 0 0.0002 0.0006 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.394 . . exonic exonic exonic . . 0.497 @ . . . 0.41 0.45 182 ENSG00000064666 CNN2 CNN2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.790 0.112 . . 37 . 0.455 . . 0.450 . . . 0.387 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.920 . . 0 0 0 0 0 0 . 0.401 . . 0.464 . . . . . . 0 0.367 . . . . . 0.650 . 0.728 . LowAF 0.11 rs200303627 . . . . . . . . . . . . 14.1922 0.007202 . IV.26 IV.26 . 0.110000 . . . . . . 0.491 . . IV.26 0.0006 0.0002 2.994e-05 0 0 0 0.0003 0.0002 0 0.0014 0.0014 0.0074 0 0.0045 0.0017 0.0009 0.0015 . . 0.854 . 2.196 2.196000 . . 0.110000 . . 1.0E-190 1.000 0.715 . 0.276 0.947 . 0.675 . 0.167 2.196 -0.019 . . . rs200303627 rs200303627 1 1538 10 1/0 0,199,255 +. 19 1037645 AC A - CNN2 2156 Calponin 2 NM_001303501.1 1 2548 993 NP_001290430.1 deletion frameshift exon GRCh37 1037648 1037648 Chr19(GRCh37):g.1037648del 742 742 NM_001303501.1:c.742del p.Arg248Glyfs*113 p.Arg248Glyfs*113 7 602373 25 3' 91.8398 XII.14 0.995953 15.1742 91.8398 XII.14 0.995953 16.1143 0 rs371146424 yes no Frequency 1 C 0.000000 0 0.000443 0.001227 0.000148 0.000100 0.000446 0.000000 0.000570 0.000367 0.000166 0.001227 116 24 5 1 8 0 68 9 1 261872 19562 33892 9976 17956 30678 119238 24536 6034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 116 24 5 1 8 0 68 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7625 3873 11498 311 229 540 0.0391885 0.0558264 0.0448579 0.0391885 0.0558264 0.0448579 87 COSM5833597 Breast 0.000815 2453 C 255 Pass . . . . . . . . . . . . . . . . 0.14018692 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 214 . . . . . . 0.056 0.045 0.039 . . . . . . . . . . 1.626e-03 . . . 0.0061 0.0014 0.0004 0 0.0003 0.0015 0 0 0.0064 0.0008 0.0004 0 0.0002 0.0006 0 0 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000064666 CNN2 CNN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs371146424 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 2.997e-05 0.0001 0 0 0.0004 0.0002 0 0.0032 0.0030 0.0077 0 0.0098 0.0040 0.0023 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371146424 rs371146424 1 1538 10 1.I 0,6,85 +rs548043784 19 1048818 A C - ABCA7 37 ATP-binding cassette, sub-family A (ABC1), member 7 NM_019112.3 1 6819 6441 NP_061985.2 Q8IZY2 substitution intron GRCh37 1048818 1048818 Chr19(GRCh37):g.1048818A>C 2270-76 2270-76 NM_019112.3:c.2270-76A>C p.? p.? 17 16 605414 -76 3' 79.6328 XII.61 0.879543 5.44377 79.6328 XII.61 0.879543 5.24958 0 rs548043784 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000067 0.000118 0.000000 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000118 2 1 0 0 0 0 1 0 0 29890 8454 828 296 1620 0 14522 3246 924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 35 Genomes transversion A C A>C 0.039 -1.489 255 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.57894737 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||ABCA7|mRNA|CODING|NM_019112|) . . . . . . . -0.3915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000064687 ABCA7 ABCA7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs548043784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.691e-05 0 0 0 0 6.886e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149452932 19 1085965 C T - ARHGAP45 17102 Rho GTPase activating protein 45 NM_001258328.2 1 5387 3459 NP_001245257.1 substitution missense exon GRCh37 1085965 1085965 Chr19(GRCh37):g.1085965C>T 3419 3419 NM_001258328.2:c.3419C>T p.Thr1140Ile p.Thr1140Ile 23 601155 307 3' 78.3968 X.41 0.978499 XII.24 78.3968 X.41 0.978499 XII.24 0 Cryptic Acceptor Weakly Activated 1085981 6.29452 0.319627 82.7368 6.60916 0.400585 82.7368 rs149452932 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.007240 0.001249 0.001164 0.002601 0.000000 0.000716 0.009935 0.022664 0.007512 0.022664 1971 29 40 26 0 22 1223 583 48 272234 23210 34350 9998 18752 30712 123098 25724 6390 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000162 0.000466 0.000000 16 0 0 0 0 0 10 6 0 1939 29 40 26 0 22 1203 571 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8538 4359 12897 8 1 9 0.00093611 0.000229358 0.00069735 0.00093611 0.000229358 0.00069735 49 COSM5365384 Large intestine 0.000448 2231 transition C T C>T 0.000 0.205 T Thr ACA 0.280 I Ile ATA 0.163 1140 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 255 PASS . . . . . . 0.0014 0.0029 . 0.005 . . . . . . 0.4550562 . . @ 81 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.051 . . 178.0 . . . 0.0002 0.0007 0.0009 0.0002 0.0007 0.0009 . -1.1148 -1.139 -1.115 c . . . . . 7.510e-03 . . . 0.0015 0.0049 0.0013 0 0.0253 0.0074 0.0045 0.0004 0.0013 0.0075 0.0013 0 0.0229 0.0112 0.0073 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.175 0.0014 . . . 0.27 0.44 182 ENSG00000180448 HMHA1 HMHA1 . . . 1.000 0.517 . . . . . . . Likely_benign . 0 . 0.030 . . . . . . . . . 37 . 0.146 . . 0.249 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 3 0.251 . . . . . 0.220 . 0.059 . HET 0.32 rs149452932 . . . . . . . . . . . . VI.87 5.4E-4 . IV.21 0.759 . 0.450000 . . . . 0.000697 . 0.164 . . . 0.0013 0.0072 0.0012 0.0026 0 0.0225 0.0101 0.0074 0.0007 0.0011 0.0074 0.0012 0.0033 0 0.0235 0.0085 0.0081 . . 0.522 . -0.035 -0.035000 . . 0.450000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.183 . 0.313 -0.035 0.871 0.0009 . . rs149452932 rs149452932 1 1538 10 1/0 0,234,255 +rs149452932 19 1085965 C T - POLR2E 9192 Polymerase (RNA) II (DNA directed) polypeptide E, 25kDa NM_002695.3 -1 2866 633 NP_002686.2 P19388 substitution downstream GRCh37 1085965 1085965 Chr19(GRCh37):g.1085965C>T *2769 *2769 NM_002695.3:c.*2769G>A p.? p.? 8 180664 2755 3' 73.2346 7.87813 0.877012 X.14 73.2346 7.87813 0.877012 X.14 0 rs149452932 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.007240 0.001249 0.001164 0.002601 0.000000 0.000716 0.009935 0.022664 0.007512 0.022664 1971 29 40 26 0 22 1223 583 48 272234 23210 34350 9998 18752 30712 123098 25724 6390 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000162 0.000466 0.000000 16 0 0 0 0 0 10 6 0 1939 29 40 26 0 22 1203 571 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8538 4359 12897 8 1 9 0.00093611 0.000229358 0.00069735 0.00093611 0.000229358 0.00069735 49 COSM5365384 Large intestine 0.000448 2231 transition G A G>A 0.000 0.205 255 PASS . . . . . . 0.0014 0.0029 . 0.005 . . . . . . 0.4550562 . . @ 81 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.051 . . 178.0 . . . 0.0002 0.0007 0.0009 0.0002 0.0007 0.0009 . -1.1148 -1.139 -1.115 c . . . . . 7.510e-03 . . . 0.0015 0.0049 0.0013 0 0.0253 0.0074 0.0045 0.0004 0.0013 0.0075 0.0013 0 0.0229 0.0112 0.0073 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.175 0.0014 . . . 0.27 0.44 182 ENSG00000180448 HMHA1 HMHA1 . . . 1.000 0.517 . . . . . . . Likely_benign . 0 . 0.030 . . . . . . . . . 37 . 0.146 . . 0.249 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 3 0.251 . . . . . 0.220 . 0.059 . HET 0.32 rs149452932 . . . . . . . . . . . . VI.87 5.4E-4 . IV.21 0.759 . 0.450000 . . . . 0.000697 . 0.164 . . . 0.0013 0.0072 0.0012 0.0026 0 0.0225 0.0101 0.0074 0.0007 0.0011 0.0074 0.0012 0.0033 0 0.0235 0.0085 0.0081 . . 0.522 . -0.035 -0.035000 . . 0.450000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.183 . 0.313 -0.035 0.871 0.0009 . . rs149452932 rs149452932 1 1538 10 1/0 0,234,255 +rs144165419 19 2222325 G A - DOT1L 24948 DOT1-like, histone H3 methyltransferase (S. cerevisiae) NM_032482.2 1 7436 4614 NP_115871.1 substitution missense exon GRCh37 2222325 2222325 Chr19(GRCh37):g.2222325G>A 3157 3157 NM_032482.2:c.3157G>A p.Ala1053Thr p.Ala1053Thr 24 607375 -234 5' 86.1635 9.33191 0.996332 7.70818 86.1635 9.33191 0.996332 7.70818 0 Cryptic Donor Strongly Activated 2222322 VI.47 0.28391 71.3225 8.59832 0.947442 75.6848 Histone H3-K79 methyltransferase, metazoa rs144165419 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.004100 0.000000 0.003000 0.010100 0.001723 0.000126 0.001803 0.007520 0.000106 0.002243 0.001727 0.000974 0.003270 0.007520 475 3 62 76 2 69 217 25 21 275712 23864 34396 10106 18830 30766 125658 25670 6422 0.000022 0.000000 0.000058 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 3 0 1 0 0 2 0 0 0 469 3 60 76 2 65 217 25 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8463 4244 12707 9 0 9 0.00106232 0 0.00070777 0.00106232 0 0.00070777 31 transition G A G>A 0.000 -0.440 A Ala GCG 0.107 T Thr ACG 0.116 1053 11 2 Chimp 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.68 III.36 good 4.662E-1 0.2619 255 PASS . 0.0041 0.01 0.01 0.0013 . 0.0028 0.01 . 0.003 0.0041 ENSG00000104885:ENST00000398665:exon24:c.G3157A:p.A1053T . DOT1L:NM_032482:exon24:c.G3157A:p.A1053T . . 0.5692308 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.051 . @ . . . . . 1 0.167 . . 65.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A1053T|DOT1L|mRNA|CODING|NM_032482|NM_032482.ex.24) . 0.0007 0.0011 . 0.0007 0.0011 . -1.2583 -1.343 -1.258 c . . . . . 1.788e-03 . . . 0.0003 0.0023 0.0014 0.0002 0.0016 0.0035 0 0.0022 0.0001 0.0018 0.0014 0.0001 0.0013 0.0024 0.0015 0.0022 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.241 . . exonic exonic exonic . . 0.038 0.0028 . . . 0.46 0.33 182 ENSG00000104885 DOT1L DOT1L . . . 0.004 0.103 . 82 0.001262 64976 68 0.0011336 59986 Uncertain_significance . 0 . 0.040 . . . . . . . . . 37 . 0.115 . . 0.321 . . . 0.126 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.129 . . 0 0 0 0 0 0 . 0.126 . . 0.121 . . . . . . 0 0.155 . . . . . 0.006 . 0.280 . HET 0 rs144165419 . . . . . . . 0.004120879120879121 0.0 0.011049723756906077 0.006993006993006993 0.0013192612137203166 0.5657 0.0 . IV.58 -4.01 . 0.000000 . . . . 0.000708 . 0.149 . . . 0.0001 0.0019 0.0018 0.0076 0.0001 0.0011 0.0018 0.0033 0.0022 0.0001 0.0007 0 0.0033 0 0.0003 0.0010 0.0031 . . 0.817 . -0.489 -0.489000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.170 . 0.135 -0.489 0.069 0.01 . . rs144165419 rs144165419 1 1538 10 1/0 0,255,255 +rs117374034 19 2244692 C T - SF3A2 10766 Splicing factor 3a, subunit 2, 66kDa NM_007165.4 1 1650 1395 NP_009096.2 Q15428 substitution intron GRCh37 2244692 2244692 Chr19(GRCh37):g.2244692C>T 199-40 199-40 NM_007165.4:c.199-40C>T p.? p.? 4 3 600796 -40 3' 90.011 X.41 0.948032 10.0983 90.011 X.41 0.948032 9.98669 0 rs117374034 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.002300 0.006100 0.000000 0.016900 0.000000 0.007340 0.003628 0.004969 0.001087 0.000000 0.002632 0.012503 0.002219 0.006826 0.012503 2030 87 171 11 0 81 1579 57 44 276572 23982 34416 10122 18858 30774 126286 25688 6446 0.000065 0.000083 0.000000 0.000000 0.000000 0.000065 0.000095 0.000000 0.000310 9 1 0 0 0 1 6 0 1 2012 85 171 11 0 79 1567 57 42 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8516 4390 12906 82 16 98 0.0095371 0.00363141 0.00753614 0.0095371 0.00363141 0.00753614 71 transition C T C>T 0.000 -1.086 255 PASS . 0.01 . . 0.02 0.0023 0.0052 . . 0.017 0.0061 . . . . . 0.5458515 . . @ 125 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 229.0 . . . 0.0036 0.0075 0.0095 0.0036 0.0075 0.0095 . -0.0911 . . . . . . . . 7.073e-03 . . . 0.0042 0.0069 0.0035 0 0.0011 0.0117 0.0057 0.0025 0.0039 0.0067 0.0035 0 0.0018 0.0105 0.0102 0.0026 . . . . . . intronic intronic intronic . . . 0.0052 . . . 0.3 0.1 182 ENSG00000104897 SF3A2 SF3A2 . . . . . . 884 0.013605 64976 858 0.0143033 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117374034 . . . . . . . . . . . . . . . . . . . . . . . 0.007536 . . . . . 0.0040 0.0075 0.0050 0.0011 0 0.0022 0.0128 0.0068 0.0026 0.0030 0.0064 0.0048 0 0 0.0026 0.0102 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs117374034 rs117374034 1 1538 10 1/0 0,225,234 +. 19 2341093 CCTCCCTGGA C - SPPL2B 30627 Signal peptide peptidase like 2B NM_152988.2 1 3752 1779 NP_694533.1 Q8TCT7 deletion intron NG_032984.1 17467 17475 NG_032984.1:g.17467_17475del 956+82 956+90 NM_152988.2:c.956+82_956+90del p.? p.? 8 8 608239 82 5' 78.9497 9.09184 0.991867 15.3469 78.9497 9.09184 0.991867 15.0928 0 Cryptic Acceptor Strongly Activated 17487 0.003686 3.45189 0.007919 65.2377 rs547300749 no no 0 0.000000 0 CTCCCTGGA 255 Pass . . . . . . . . . . . . . . . . 0.5151515 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion . . . . ncRNA_exonic exonic intronic . . . . . . . . . . ENSG00000005206 SPPL2B SPPL2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs547300749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,29 +rs745964036 19 2341103 G A - SPPL2B 30627 Signal peptide peptidase like 2B NM_152988.2 1 3752 1779 NP_694533.1 Q8TCT7 substitution intron NG_032984.1 17476 17476 NG_032984.1:g.17476G>A 956+91 956+91 NM_152988.2:c.956+91G>A p.? p.? 8 8 608239 91 5' 78.9497 9.09184 0.991867 15.3469 78.9497 9.09184 0.991867 15.3469 0 New Acceptor Site 17478 5.23554 0.002677 66 rs745964036 yes no Frequency 1 0.000000 0 0.000019 0.000000 0.000000 0.000000 0.000124 0.000000 0.000023 0.000000 0.000000 0.000124 2 0 0 0 1 0 1 0 0 104646 7348 15798 5638 8072 18152 42874 4146 2618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 78 Exomes transition G A G>A 0.000 255 PASS . . . . . . . . . . . . . . . . 0.4742268 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . 0.4847 . . . . . . . . 6.501e-05 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0003 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . . . . ENSG00000005206 SPPL2B SPPL2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs745964036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.911e-05 0 0 0.0001 0 2.332e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs148213507 19 2438529 G A - LMNB2 6638 Lamin B2 NM_032737.3 -1 4644 1863 NP_116126.3 substitution synonymous exon GRCh37 2438529 2438529 Chr19(GRCh37):g.2438529G>A 402 402 NM_032737.3:c.402C>T p.Ser134= p.Ser134Ser 3 150341 1 3' 86.1162 X.65 0.84386 X.45 85.6304 10.1656 0.885691 9.97185 0.00260592 Filament rs148213507 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001319 0.000338 0.000933 0.000602 0.000106 0.000033 0.002305 0.000790 0.001100 0.002305 358 8 32 6 2 1 282 20 7 271396 23672 34290 9970 18812 30622 122344 25320 6366 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 356 8 32 6 2 1 280 20 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4399 12982 15 3 18 0.00174459 0.000681508 0.00138462 0.00174459 0.000681508 0.00138462 26 RCV000502022.1 germline clinical testing Likely benign 1 not specified COSM3422621 Large intestine 0.000443 2257 transition C T C>T 0.992 0.851 S Ser AGC 0.243 S Ser AGT 0.149 134 255 PASS . 0.0014 . . 0.004 . 0.0004 . . 0.002 . . LMNB2:uc002lvy.4:exon3:c.C402T:p.S134S LMNB2:NM_032737:exon3:c.C402T:p.S134S . . 0.5121951 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0007 0.0014 0.0017 0.0007 0.0014 0.0017 . I.37 . . . . . . . . 1.323e-03 . . . 0.0002 0.0014 0.0003 0.0002 0.0005 0.0027 0.0016 0.0001 0.0002 0.0013 0.0002 0.0003 0.0009 0.0022 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.42 0.22 182 ENSG00000176619 LMNB2 LMNB2 . . . . . . 99 0.00152364 64976 97 0.00161704 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148213507 . . . . . . ID\x3dCOSM3422621\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . 0.0125 0.18 . 0.001385 . . . . 3.III 0.0002 0.0014 0.0009 0.0006 0.0001 0.0007 0.0024 0.0013 3.266e-05 0.0006 0.0011 0.0012 0 0 0.0014 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs148213507 rs148213507 1 1538 10 1/0 0,255,255 +rs74635330 19 2630894 A T - GNG7 4410 Guanine nucleotide binding protein (G protein), gamma 7 NM_052847.2 -1 4146 207 NP_443079.1 O60262 substitution intron GRCh37 2630894 2630894 Chr19(GRCh37):g.2630894A>T 15250 15250 NM_052847.2:c.-78+15328T>A p.? p.? 1 1 604430 15328 5' 80.0369 VII.76 0.686642 3.79786 80.0369 VII.76 0.686642 3.79786 0 rs74635330 yes no Frequency/1000G 2 A 0.000000 0 0.004792 0.001500 0.006100 0.000000 0.012900 0.004300 0.007535 0.001950 0.004773 0.003311 0.000000 0.000000 0.009685 0.016055 0.010204 0.016055 233 17 4 1 0 0 145 56 10 30922 8720 838 302 1622 0 14972 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 233 17 4 1 0 0 145 56 10 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion T A T>A 0.000 -1.651 255 PASS . 0.01 0.0028 . 0.02 0.0015 0.0048 0.0043 . 0.013 0.0061 . . . . . 0.5084746 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.5217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.36 0.22 182 ENSG00000176533 GNG7 GNG7 . . . . . . 664 0.0102192 64976 641 0.0106858 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs74635330 0.033 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0075 0.0048 0.0033 0 0.0161 0.0097 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs74635330 rs74635330 1 1538 10 1/0 0,255,255 +rs74635330 19 2630894 A T - MIR7850 50118 MicroRNA 7850 NR_107004.1 1 79 0 substitution downstream GRCh37 2630894 2630894 Chr19(GRCh37):g.2630894A>T *103 *103 NR_107004.1:n.*103A>T p.? p.? 1 rs74635330 yes no Frequency/1000G 2 A 0.000000 0 0.004792 0.001500 0.006100 0.000000 0.012900 0.004300 0.007535 0.001950 0.004773 0.003311 0.000000 0.000000 0.009685 0.016055 0.010204 0.016055 233 17 4 1 0 0 145 56 10 30922 8720 838 302 1622 0 14972 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 233 17 4 1 0 0 145 56 10 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion A T A>T 0.000 -1.651 255 PASS . 0.01 0.0028 . 0.02 0.0015 0.0048 0.0043 . 0.013 0.0061 . . . . . 0.5084746 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.5217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.36 0.22 182 ENSG00000176533 GNG7 GNG7 . . . . . . 664 0.0102192 64976 641 0.0106858 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs74635330 0.033 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0075 0.0048 0.0033 0 0.0161 0.0097 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs74635330 rs74635330 1 1538 10 1/0 0,255,255 +. 19 2785755 C T - THOP1 11793 Thimet oligopeptidase 1 NM_003249.4 1 2601 2070 NP_003240.1 P52888 substitution intron GRCh37 2785755 2785755 Chr19(GRCh37):g.2785755C>T 16+79 16+79 NM_003249.4:c.16+79C>T p.? p.? 1 1 601117 79 5' 71.4999 10.0514 0.900451 9.91061 71.4999 10.0514 0.900451 9.74899 0 Cryptic Donor Weakly Activated 2785753 69.7236 5.63509 0.253876 74.4082 transition C T C>T 0.016 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.5675676 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 1.1342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172009 THOP1 THOP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139846934 19 2933733 G A - ZNF77 13150 Zinc finger protein 77 NM_021217.2 -1 2040 1638 NP_067040.1 Q15935 substitution synonymous exon GRCh37 2933733 2933733 Chr19(GRCh37):g.2933733G>A 1392 1392 NM_021217.2:c.1392C>T p.Tyr464= p.Tyr464Tyr 4 194551 1081 3' 78.1636 6.28929 0.703122 2.79112 78.1636 6.28929 0.703122 2.79112 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs139846934 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001516 0.000541 0.000262 0.000894 0.000106 0.002478 0.002344 0.000155 0.001551 0.002478 419 13 9 9 2 76 296 4 10 276464 24026 34366 10072 18858 30668 126296 25730 6448 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 417 13 9 9 2 74 296 4 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4405 12984 21 1 22 0.00244186 0.000226963 0.00169153 0.00244186 0.000226963 0.00169153 109 COSM5113463 Large intestine 0.000896 2231 transition C T C>T 0.000 -0.440 Y Tyr TAC 0.562 Y Tyr TAT 0.438 464 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 ENSG00000175691:ENST00000314531:exon4:c.C1392T:p.Y464Y ZNF77:uc002lws.4:exon4:c.C1392T:p.Y464Y ZNF77:NM_021217:exon4:c.C1392T:p.Y464Y . . 0.41509435 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y464|ZNF77|mRNA|CODING|NM_021217|NM_021217.ex.4) 0.0002 0.0017 0.0024 0.0002 0.0017 0.0024 . -0.3436 . . . . . . . . 1.436e-03 . . . 0.0006 0.0015 0.0003 0.0002 0 0.0022 0.0014 0.0021 0.0004 0.0014 0.0004 0.0001 0 0.0019 0.0014 0.0021 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.25 0.27 182 ENSG00000175691 ZNF77 ZNF77 . . . . . . 99 0.00152364 64976 96 0.00160037 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139846934 . . . . . . . . . . . . . . . . . . . . . . . 0.001692 . . . . . 0.0004 0.0015 0.0002 0.0009 0.0001 0.0002 0.0022 0.0013 0.0025 0.0008 0.0020 0.0012 0 0 0 0.0033 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs139846934 rs139846934 1 1538 10 1/0 0,255,255 +rs439808 19 2994814 T C - TLE6 30788 Transducin-like enhancer of split 6 NM_001143986.1 1 2008 1719 NP_001137458.1 Q9H808 substitution intron GRCh37 2994814 2994814 Chr19(GRCh37):g.2994814T>C 1615-84 1615-84 NM_001143986.1:c.1615-84T>C p.? p.? 17 16 612399 -84 3' 83.2917 IX.97 0.926518 14.3816 83.2917 IX.97 0.926518 14.3816 0 2994816 -24.7594 rs439808 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 1.000000 0.999714 1.000000 1.000000 30919 8706 838 300 1616 0 14988 3491 980 30920 8706 838 300 1616 0 14988 3492 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.500000 0.499857 0.500000 15459 4353 419 150 808 0 7494 1745 490 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 0.000 0.044 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.4773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.18 0.24 182 ENSG00000104953 TLE6 TLE6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HOM . rs439808 0.793 0.768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 0.9997 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs439808 rs439808 rs439808 rs439808 1 1538 255 1.I 0,0,255 +rs369543849 19 3055761 C T - AES 307 Amino-terminal enhancer of split NM_198969.1 -1 1743 795 NP_945320.1 substitution intron GRCh37 3055761 3055761 Chr19(GRCh37):g.3055761C>T 436-37 436-37 NM_198969.1:c.436-37G>A p.? p.? 5 4 600188 -37 3' 90.1447 VIII.66 0.840351 4.14206 90.1447 VIII.66 0.840351 IV.25 0 Cryptic Acceptor Weakly Activated 3055755 V.71 0.599649 75.8606 5.82073 0.638419 75.8606 rs369543849 yes no Frequency 1 C 0.000000 0 0.000080 0.000043 0.000000 0.000000 0.000000 0.000000 0.000145 0.000084 0.000000 0.000145 19 1 0 0 0 0 16 2 0 237274 23104 26496 7000 16622 24754 110172 23808 5318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 1 0 0 0 0 16 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 44 transition G A G>A 0.000 -4.395 255 PASS . . . . . . . . . . . . . . . . 0.5510204 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.0091 . . . . . . . . 6.323e-05 . . . 0 7.242e-05 0 0 0 0.0002 0 0 0 3.015e-05 0 0 0.0002 3.802e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.25 182 ENSG00000104964 AES AES . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369543849 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 6.952e-05 7.755e-05 0 0 0 9.843e-05 0.0001 0 0 0 9.695e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs369543849 rs369543849 1 1538 10 1/0 0,246,255 +rs201749907 19 3543597 G A - C19orf71 34496 Chromosome 19 open reading frame 71 NM_001135580.1 1 671 630 NP_001129052.1 A6NCJ1 substitution missense exon GRCh37 3543597 3543597 Chr19(GRCh37):g.3543597G>A 367 367 NM_001135580.1:c.367G>A p.Val123Ile p.Val123Ile 3 45 3' 69.9511 4.30913 0.037488 3.39195 69.9511 4.30913 0.037488 3.16194 0 rs201749907 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.021500 0.000000 0.003000 0.001400 0.006590 0.000619 0.001989 0.024738 0.000170 0.019414 0.005606 0.000741 0.005750 0.024738 1130 10 49 208 2 440 383 11 27 171466 16150 24634 8408 11758 22664 68314 14842 4696 0.000175 0.000000 0.000081 0.000238 0.000000 0.000882 0.000088 0.000000 0.000000 15 0 1 1 0 10 3 0 0 1100 10 47 206 2 420 377 11 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3163 1383 4546 19 1 20 0.00597109 0.000722543 0.0043802 0.00597109 0.000722543 0.0043802 98 transition G A G>A 0.000 -2.781 V Val GTC 0.240 I Ile ATC 0.481 123 12 6 Megabat 3 3 4 0 0 5.IX 5.II 84 111 29 C0 30.92 0.00 Tolerated 1 III.76 good 9.798E-1 0.001732 255 PASS . . . . . . 0.005 0.0014 . 0.003 0.021 ENSG00000183397:ENST00000329493:exon3:c.G367A:p.V123I C19orf71:uc010xhm.2:exon3:c.G367A:p.V123I C19orf71:NM_001135580:exon3:c.G367A:p.V123I . . 0.6 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.187 . . 20.0 . . . 0.0007 0.0044 0.006 0.0007 0.0044 0.006 . -2.1950 -2.220 -2.195 c . . . . . 7.805e-03 . . . 0 0.0139 0.0071 0 0 0.0092 0.0123 0.0230 0 0.0161 0.0101 0 0 0.0104 0.0179 0.0231 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.007 0.0050 . . . 0.32 0.26 182 ENSG00000183397 C19orf71 C19orf71 . . . 1.000 0.747 . 186 0.0028626 64976 165 0.00275064 59986 Likely_benign . 0 . 0.062 . . . . . . . . . 37 . 0.040 . . 0.254 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.066 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 2 0.010 . . . . . 0.377 . 0.059 . HET 1 rs201749907 0.022 0.014 . . . . . . . . . . IX.42 0.001425 ENST00000329493 IV.41 -8.83 . 1.000000 A6NCJ1 . . . 0.004380 . 0.059 . . . 0.0003 0.0070 0.0020 0.0249 9.864e-05 0.0009 0.0048 0.0059 0.0194 0.0009 0.0049 0.0024 0.0199 0.0006 0.0003 0.0087 0.0051 . . 0.495 . -2.771 -2.771000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.148 . 0.013 . 0.031 -2.771 0.091 0.022 . . rs201749907 rs201749907 1 1538 10 1/0 0,255,255 +rs201749907 19 3543597 G A - MFSD12 28299 Major facilitator superfamily domain containing 12 NM_174983.4 -1 2135 1443 NP_778148.2 Q6NUT3 substitution downstream GRCh37 3543597 3543597 Chr19(GRCh37):g.3543597G>A *1111 *1111 NM_174983.4:c.*1111C>T p.? p.? 10 617745 1134 3' 85.9048 XI.85 0.965784 13.5725 85.9048 XI.85 0.965784 13.5725 0 rs201749907 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.021500 0.000000 0.003000 0.001400 0.006590 0.000619 0.001989 0.024738 0.000170 0.019414 0.005606 0.000741 0.005750 0.024738 1130 10 49 208 2 440 383 11 27 171466 16150 24634 8408 11758 22664 68314 14842 4696 0.000175 0.000000 0.000081 0.000238 0.000000 0.000882 0.000088 0.000000 0.000000 15 0 1 1 0 10 3 0 0 1100 10 47 206 2 420 377 11 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3163 1383 4546 19 1 20 0.00597109 0.000722543 0.0043802 0.00597109 0.000722543 0.0043802 98 transition C T C>T 0.000 -2.781 255 PASS . . . . . . 0.005 0.0014 . 0.003 0.021 ENSG00000183397:ENST00000329493:exon3:c.G367A:p.V123I C19orf71:uc010xhm.2:exon3:c.G367A:p.V123I C19orf71:NM_001135580:exon3:c.G367A:p.V123I . . 0.6 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.187 . . 20.0 . . . 0.0007 0.0044 0.006 0.0007 0.0044 0.006 . -2.1950 -2.220 -2.195 c . . . . . 7.805e-03 . . . 0 0.0139 0.0071 0 0 0.0092 0.0123 0.0230 0 0.0161 0.0101 0 0 0.0104 0.0179 0.0231 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.007 0.0050 . . . 0.32 0.26 182 ENSG00000183397 C19orf71 C19orf71 . . . 1.000 0.747 . 186 0.0028626 64976 165 0.00275064 59986 Likely_benign . 0 . 0.062 . . . . . . . . . 37 . 0.040 . . 0.254 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.066 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 2 0.010 . . . . . 0.377 . 0.059 . HET 1 rs201749907 0.022 0.014 . . . . . . . . . . IX.42 0.001425 ENST00000329493 IV.41 -8.83 . 1.000000 A6NCJ1 . . . 0.004380 . 0.059 . . . 0.0003 0.0070 0.0020 0.0249 9.864e-05 0.0009 0.0048 0.0059 0.0194 0.0009 0.0049 0.0024 0.0199 0.0006 0.0003 0.0087 0.0051 . . 0.495 . -2.771 -2.771000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.148 . 0.013 . 0.031 -2.771 0.091 0.022 . . rs201749907 rs201749907 1 1538 10 1/0 0,255,255 +rs117941683 19 3771069 G A - RAX2 18286 Retina and anterior neural fold homeobox 2 NM_001319074.1 -1 2414 693 NP_001306003.1 substitution intron GRCh37 3771069 3771069 Chr19(GRCh37):g.3771069G>A 355-112 355-112 NM_001319074.1:c.355-112C>T p.? p.? 3 2 610362 -112 3' 83.3919 XI.88 0.974204 13.8058 83.3919 XI.88 0.974204 13.8058 0 rs117941683 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.001500 0.000000 0.001000 0.002000 0.001400 0.001167 0.000576 0.001199 0.006623 0.000000 0.000000 0.001606 0.000859 0.001022 0.006623 36 5 1 2 0 0 24 3 1 30856 8682 834 302 1622 0 14946 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 5 1 2 0 0 24 3 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.440 255 PASS 0.0041 0.0018 0.0028 . 0.0013 0.0015 0.0012 0.0014 0.001 0.002 . . . . . . 0.46875 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.2040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . 0.0012 . . . 0.34 0.34 182 ENSG00000173976 RAX2 MIR1268A . . . . . . 92 0.00141591 64976 89 0.00148368 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs117941683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0012 0.0012 0.0066 0 0.0009 0.0016 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0041 . . rs117941683 rs117941683 1 1538 10 1/0 0,255,255 +rs200172309 19 3920737 C T - ATCAY 779 Ataxia, cerebellar, Cayman type NM_033064.4 1 5036 1116 NP_149053.1 Q86WG3 substitution intron GRCh37 3920737 3920737 Chr19(GRCh37):g.3920737C>T 1074-27 1074-27 NM_033064.4:c.1074-27C>T p.? p.? 12 11 608179 -27 3' 87.8541 13.9934 0.992539 X.34 87.8541 13.9934 0.992539 X.52 0 rs200172309 yes no Frequency/1000G 2 C 0.000000 0 0.000091 0.000557 0.000000 0.000000 0.000000 0.000000 0.000066 0.000039 0.000325 0.000557 24 13 0 0 0 0 8 1 2 264706 23352 32110 9722 17610 28360 121714 25676 6162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 13 0 0 0 0 8 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8209 3814 12023 1 0 1 0.000121803 0 8.3167e-05 0.000121803 0 8.3167e-05 97 transition C T C>T 0.000 -0.682 255 PASS 0.002 0.0005 . . . . . . . . . . . . . . 0.4117647 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.3967 . . . . . . . . 5.592e-05 . . . 0.0003 8.076e-05 0 0 0 9.82e-05 0 0 0.0001 2.953e-05 0 0 0 3.811e-05 0 0 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.37 0.31 182 ENSG00000167654 ATCAY MIR1268A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200172309 . . . . . . . . . . . . . . . . . . . . . . . 0.000083 . . . . . 0.0004 6.844e-05 0 0 0 4.506e-05 7.497e-05 0.0002 0 0.0008 0.0003 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs200172309 rs200172309 1 1538 10 1/0 0,255,255 +rs370105452 19 3982546 G A - EEF2 3214 Eukaryotic translation elongation factor 2 NM_001961.3 -1 3158 2577 NP_001952.1 P13639 substitution intron GRCh37 3982546 3982546 Chr19(GRCh37):g.3982546G>A 613-124 613-124 NM_001961.3:c.613-124C>T p.? p.? 5 4 130610 -124 3' 83.7093 10.1759 0.891432 IX.98 83.7093 10.1759 0.891432 IX.98 0 Cryptic Acceptor Weakly Activated 3982534 5.86711 0.667407 80.7694 5.65926 0.762401 84.0841 rs370105452 yes no Frequency 1 G 0.000000 0 0.000170 0.000000 0.000089 0.000000 0.000000 0.000000 0.000292 0.000219 0.000325 0.000292 44 0 3 0 0 0 35 4 2 259004 22898 33634 9576 18526 30094 119838 18278 6160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 0 3 0 0 0 35 4 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3981 1752 5733 1 0 1 0.00025113 0 0.000174398 0.00025113 0 0.000174398 42 transition C T C>T 1.000 1.497 255 PASS . . . . . . . . . . . . . . . . 0.46206897 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 145.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.35 . . . . . . . . 1.114e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.51 0.3 182 ENSG00000206775 SNORD37 SNORD37 . . . . . . 10 0.000153903 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs370105452 . . . . . . . . . . . . . . . . . . . . . . . 0.000174 . . . . III.83 0 0.0002 9.147e-05 0 0 0.0001 0.0003 0.0004 0 0 0.0002 0 0 0 0.0006 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs370105452 rs370105452 1 1538 10 1/0 0,243,255 +rs370105452 19 3982546 G A - SNORD37 10166 Small nucleolar RNA, C/D box 37 NR_002602.1 -1 66 0 substitution exon GRCh37 3982546 3982546 Chr19(GRCh37):g.3982546G>A 25 25 NR_002602.1:n.25C>T 1 rs370105452 yes no Frequency 1 G 0.000000 0 0.000170 0.000000 0.000089 0.000000 0.000000 0.000000 0.000292 0.000219 0.000325 0.000292 44 0 3 0 0 0 35 4 2 259004 22898 33634 9576 18526 30094 119838 18278 6160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 0 3 0 0 0 35 4 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3981 1752 5733 1 0 1 0.00025113 0 0.000174398 0.00025113 0 0.000174398 42 transition C T C>T 1.000 1.497 255 PASS . . . . . . . . . . . . . . . . 0.46206897 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 145.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.35 . . . . . . . . 1.114e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.51 0.3 182 ENSG00000206775 SNORD37 SNORD37 . . . . . . 10 0.000153903 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs370105452 . . . . . . . . . . . . . . . . . . . . . . . 0.000174 . . . . III.83 0 0.0002 9.147e-05 0 0 0.0001 0.0003 0.0004 0 0 0.0002 0 0 0 0.0006 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs370105452 rs370105452 1 1538 10 1/0 0,243,255 +rs78015843 19 4261962 C T - CCDC94 25518 Coiled-coil domain containing 94 NM_018074.4 1 1397 972 NP_060544.2 Q9BW85 substitution intron GRCh37 4261962 4261962 Chr19(GRCh37):g.4261962C>T 588-29 588-29 NM_018074.4:c.588-29C>T p.? p.? 6 5 -29 3' 84.9708 XI.97 0.963305 8.19815 84.9708 XI.97 0.963305 8.51118 0 rs78015843 yes no Frequency/1000G 2 C 0.000000 0 0.003994 0.000000 0.005100 0.000000 0.010900 0.005800 0.009306 0.002261 0.009046 0.013201 0.000000 0.003234 0.014073 0.004489 0.012736 0.014073 2528 54 307 129 0 98 1750 109 81 271650 23888 33938 9772 18754 30304 124350 24284 6360 0.000169 0.000000 0.000118 0.000819 0.000000 0.000000 0.000257 0.000000 0.000314 23 0 2 4 0 0 16 0 1 2482 54 303 121 0 98 1718 109 79 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4399 12865 134 7 141 0.0155814 0.00158874 0.0108412 0.0155814 0.00158874 0.0108412 69 transition C T C>T 0.000 -1.247 255 PASS . 0.0046 0.01 . 0.01 . 0.004 0.0058 . 0.011 0.0051 . . . . . 0.47761193 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . INTRON(MODIFIER||||CCDC94|mRNA|CODING|NM_018074|) 0.0016 0.011 0.016 0.0016 0.011 0.016 . -0.3525 . . . . . . . . 9.274e-03 . . . 0.0027 0.0097 0.0093 0 0.0034 0.0157 0.0103 0.0038 0.0025 0.0091 0.0092 0 0.0035 0.0136 0.0104 0.0038 . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.4 0.15 182 ENSG00000105248 CCDC94 CCDC94 . . . . . . 840 0.0129279 64976 821 0.0136865 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78015843 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . 0.010841 . . . . . 0.0018 0.0094 0.0089 0.0133 0 0.0044 0.0142 0.0132 0.0032 0.0031 0.0087 0.0155 0.0099 0 0.0049 0.0134 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.016 . . rs78015843 rs78015843 1 1538 10 1/0 0,255,255 +rs73527729 19 4556051 C G - SEMA6B 10739 Sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B NM_032108.3 -1 3942 2667 NP_115484.2 Q9H3T3 substitution synonymous exon GRCh37 4556051 4556051 Chr19(GRCh37):g.4556051C>G 420 420 NM_032108.3:c.420G>C p.Thr140= p.Thr140Thr 6 608873 51 3' 81.8537 8.95159 0.93052 6.73887 81.8537 8.95159 0.93052 6.46314 0 Semaphorin/CD100 antigen rs73527729 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.001000 0.005000 0.000000 0.000776 0.000250 0.000320 0.000690 0.000053 0.000065 0.001310 0.000504 0.001391 0.001310 215 6 11 7 1 2 166 13 9 277198 24032 34418 10150 18870 30782 126690 25788 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 215 6 11 7 1 2 166 13 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4595078 Upper aerodigestive tract 0.000804 1244 transversion G C G>C 0.976 -0.279 T Thr ACG 0.116 T Thr ACC 0.361 140 255 PASS . . . . . . 0.0012 . 0.001 0.005 . . . SEMA6B:NM_032108:exon6:c.G420C:p.T140T . . 0.45318353 . . @ 121 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 267.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acC|T140|SEMA6B|mRNA|CODING|NM_032108|NM_032108.ex.6) . . . . . . . I.34 . . . . . . . . 7.893e-04 . . . 0.0002 0.0007 0.0003 0.0002 0.0005 0.0013 0 0.0001 0.0001 0.0007 0.0003 0.0001 0.0009 0.0012 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.41 0.47 182 ENSG00000167680 SEMA6B SEMA6B . . . . . . 59 0.000908028 64976 53 0.000883539 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73527729 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0008 0.0003 0.0007 5.798e-05 0.0005 0.0014 0.0015 6.497e-05 0.0001 0.0006 0 0 0 0.0006 0.0009 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs73527729 rs73527729 1 1538 10 1/0 0,213,233 +rs2620836 (chr19:5135392 A/G) 19 5135392 A G Transcript NM_015015.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KDM4B +rs111244309 19 5787205 G C - DUS3L 26920 Dihydrouridine synthase 3-like (S. cerevisiae) NM_020175.2 -1 2113 1953 NP_064560.2 Q96G46 substitution intron GRCh37 5787205 5787205 Chr19(GRCh37):g.5787205G>C 1279-23 1279-23 NM_020175.2:c.1279-23C>G p.? p.? 8 7 -23 3' 75.5622 8.74804 0.641429 XI.55 75.5622 8.74804 0.641429 XI.29 0 rs111244309 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -0.440 191 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . -0.1371 . . . . . . . . 1.608e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.13 182 ENSG00000141994 DUS3L DUS3L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111244309 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.065 . . rs111244309 rs111244309 1 1538 10 1/0 0,205,255 +rs28420751 19 5787214 T C - DUS3L 26920 Dihydrouridine synthase 3-like (S. cerevisiae) NM_020175.2 -1 2113 1953 NP_064560.2 Q96G46 substitution intron GRCh37 5787214 5787214 Chr19(GRCh37):g.5787214T>C 1279-32 1279-32 NM_020175.2:c.1279-32A>G p.? p.? 8 7 -32 3' 75.5622 8.74804 0.641429 XI.55 75.5622 8.74804 0.641429 XI.39 0 rs28420751 no no 0 T 0.000000 0 transition A G A>G 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.33766234 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . -0.0940 . . . . . . . . . . . . 0 0.0318 0.25 0.05 . 0.0490 . 0 0 0.0472 0.25 0.0455 0.25 0.0778 . 0 . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.13 182 ENSG00000141994 DUS3L DUS3L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28420751 0.033 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs28420751 rs28420751 rs28420751 rs28420751 1 1538 10 1/0 0,227,255 +rs28427521 19 5787215 G A - DUS3L 26920 Dihydrouridine synthase 3-like (S. cerevisiae) NM_020175.2 -1 2113 1953 NP_064560.2 Q96G46 substitution intron GRCh37 5787215 5787215 Chr19(GRCh37):g.5787215G>A 1279-33 1279-33 NM_020175.2:c.1279-33C>T p.? p.? 8 7 -33 3' 75.5622 8.74804 0.641429 XI.55 75.5622 8.74804 0.641429 XI.12 0 rs28427521 no no 0 G 0.000000 0 transition C T C>T 0.000 1.820 204 PASS . . . . . . . . . . . . . . . . 0.17032968 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 182.0 . . . . . . . . . . 0.2237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.2 182 ENSG00000141994 DUS3L DUS3L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28427521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs28427521 rs28427521 rs28427521 rs28427521 1 1538 10 1/0 0,206,255 +rs367895137 19 5788149 G A - DUS3L 26920 Dihydrouridine synthase 3-like (S. cerevisiae) NM_020175.2 -1 2113 1953 NP_064560.2 Q96G46 substitution synonymous exon GRCh37 5788149 5788149 Chr19(GRCh37):g.5788149G>A 981 981 NM_020175.2:c.981C>T p.Phe327= p.Phe327Phe 5 39 3' 77.2566 XI.31 0.410656 13.0453 77.2566 XI.31 0.410656 XII.45 0 tRNA-dihydrouridine synthase rs367895137 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000296 0.000042 0.000494 0.000000 0.000000 0.001462 0.000135 0.000000 0.000310 0.001462 82 1 17 0 0 45 17 0 2 276664 23982 34406 10144 18848 30776 126358 25702 6448 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 80 1 17 0 0 43 17 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.882 -0.682 F Phe TTC 0.546 F Phe TTT 0.454 327 255 PASS . . . . . . 0.0006 0.0014 . 0.002 . . . . . . 0.43965518 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . 0.3298 . . . . . . . . 3.631e-04 . . . 0 0.0004 0.0002 0 0 0.0002 0 0.0019 0 0.0004 0.0002 0 0 0.0002 0 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . . . . ENSG00000141994 DUS3L DUS3L . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367895137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0005 0 0 0 0.0001 0.0004 0.0015 0.0001 9.7e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs367895137 rs367895137 1 1538 10 1/0 0,249,255 +rs151218854 19 5843844 T G - FUT3 4014 Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) NM_000149.3 -1 2590 1086 NP_000140.1 P21217 substitution missense exon GRCh37 5843844 5843844 Chr19(GRCh37):g.5843844T>G 1007 1007 NM_000149.3:c.1007A>C p.Asp336Ala p.Asp336Ala 3 111100 1019 3' 85.9157 XI.87 0.992449 14.4147 85.9157 XI.87 0.992449 14.4147 0 Cryptic Acceptor Strongly Activated 5843833 0.026851 74.2336 0.451651 0.157734 76.5678 Glycosyl transferase, family 10 rs151218854 yes no Frequency/1000G 2 T 0.000000 0 0.010583 0.033300 0.001000 0.004000 0.002000 0.002900 0.000705 0.003865 0.000787 0.000000 0.000213 0.000357 0.000491 0.000039 0.000310 0.003865 194 87 27 0 4 11 62 1 2 275024 22512 34326 10150 18798 30780 126248 25764 6446 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 192 87 25 0 4 11 62 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5482662|COSM5482662|COSM5482662 Thyroid|Large intestine|Breast 0.002677|0.000448|0.000407 747|2231|2454 transversion A C A>C 0.000 -0.521 D Asp GAT 0.461 A Ala GCT 0.263 336 22 6 Cape rock hyrax -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 268.67 0.00 Tolerated 0.4 II.73 good 3,62E-01 5 179 PASS . . . . . 0.033 0.011 0.0029 0.004 0.002 0.001 . . . . . 0.11023622 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.131 . . 127.0 . . . . . . . . . . -1.4598 -1.498 -1.460 c . . . . . 2.620e-03 . . . 0.0242 0.0032 0.0011 0.0002 0 0.0006 0 0.0004 0.0234 0.0024 0.0011 0.0001 0 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.247 . . exonic exonic exonic . . 0.032 0.0106 . . . 0.25 0.42 182 ENSG00000171124 FUT3 FUT3 . . . 0.000 0.056 . . . . . . . Likely_benign . 0 . 0.008 . . . . . . . . . 37 . 0.091 . . 0.170 . . . 0.015 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.048 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 0 0.047 . . . . . 0.074 . 0.130 . LowAF 0.29 rs151218854 . . . . . . . . . . . . III.42 0.010701 . II.29 -4.57 . 0.540000 . . . . . . 0.066 . . . 0.0042 0.0006 0.0008 0 0.0002 4.485e-05 0.0005 0.0002 0.0004 0.0033 0.0013 0 0 0.0006 0 0.0007 0.0010 . . 0.059 . -0.855 -0.855000 . . 0.540000 . . 1.0E-179 0.000 0.063 . 0.104 0.044 . 0.136 . 0.006 -0.855 -0.913 . . . rs151218854 rs151218854 1 1538 10 1/0 0,217,255 +rs202135042 19 6743626 C G - TRIP10 12304 Thyroid hormone receptor interactor 10 NM_001288962.1 1 2201 1806 NP_001275891.1 Q15642 substitution intron GRCh37 6743626 6743626 Chr19(GRCh37):g.6743626C>G 513+17 513+17 NM_001288962.1:c.513+17C>G p.? p.? 6 6 604504 17 5' 85.1573 6.63725 0.880536 XII.44 85.1573 6.63725 0.880536 13.5796 0 rs755807919 yes no Frequency 1 0.000000 0 0.005312 0.004017 0.006757 0.018868 0.000000 0.000000 0.006477 0.006329 0.000000 0.018868 49 13 2 2 0 0 26 6 0 9224 3236 296 106 360 0 4014 948 264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 6 2 1 0 0 22 5 0 0 0 0 0 0 0 0 0 0 RF 99 Genomes transversion C G C>G 0.000 -2.619 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.5461 . . . . . . . . . . . . 0.0002 0.0002 0 0 0 0.0004 0 0.0001 0.0002 0.0004 0 0 0 0.0007 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000125733 TRIP10 TRIP10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0053 0.0068 0.0189 0 0.0063 0.0065 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs879720171 19 7032648 G A - MBD3L5 37204 Methyl-CpG binding domain protein 3-like 5 NM_001136507.1 1 773 627 NP_001129979.1 A6NJ08 substitution missense exon GRCh37 7032648 7032648 Chr19(GRCh37):g.7032648G>A 370 370 NM_001136507.1:c.370G>A p.Gly124Ser p.Gly124Ser 2 325 3' 87.7812 7.10505 0.848674 11.1701 87.7812 7.10505 0.848674 11.1701 0 rs879720171 no no 0 0.000000 0 0.004307 0.002773 0.001579 0.007092 0.000743 0.035443 0.000982 0.000938 0.001706 0.035443 81 3 7 4 1 56 8 1 1 18806 1082 4432 564 1346 1580 8150 1066 586 0.002978 0.000000 0.000451 0.003546 0.000000 0.031646 0.000245 0.000000 0.000000 28 0 1 1 0 25 1 0 0 24 3 5 2 1 6 5 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 1.255 G Gly GGT 0.162 S Ser AGT 0.149 124 14 7 Alpaca 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 249.84 0.00 Tolerated 0.67 II.79 111 PASS . . . . . . . . . . . ENSG00000237247:ENST00000329753:exon2:c.G370A:p.G124S MBD3L5:uc010xjl.2:exon2:c.G370A:p.G124S MBD3L5:NM_001136507:exon2:c.G370A:p.G124S . . 1.0 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.158 . . 18.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G124S|MBD3L5|mRNA|CODING|NM_001136507|NM_001136507.ex.2) . . . . . . . -0.6702 -0.849 -0.670 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.229 @ . . . . . . ENSG00000237247 MBD3L5 MBD3L5 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.264 . . 0.273 . . . 0.404 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.334 . . 0 0 0 0 0 0 . 0.443 . . 0.296 . . . . . . 0 0.076 . . . . . 0.229 . 0.103 . HOM 0.5 . . . . . . . ID\x3dCOSM3933232\x3bOCCURENCE\x3d1(urinary_tract) . . . . . VI.71 . . I.65 I.65 . 0.550000 A6NJ08 . . . . . 0.027 . . . 0.0022 0.0047 0.0016 0.0074 0.0008 0 0.0010 0.0021 0.0354 0.0053 0.0014 0 0 0 0.0014 0.0010 0 . . 0.133 . 1.261 1.261000 . . 0.550000 . . 1.0E-111 0.000 0.063 . 0.043 0.003 . 0.089 . 0.277 1.261 0.368 . rs3745555 rs3745555 rs3745555 rs3745555 1 1538 255 1.I 0,0,255 +. 19 7038089 A C - MBD3L4 37206 Methyl-CpG binding domain protein 3-like 4 NM_001164419.1 -1 773 627 NP_001157891.1 A6NDZ8 substitution missense exon GRCh37 7038089 7038089 Chr19(GRCh37):g.7038089A>C 410 410 NM_001164419.1:c.410T>G p.Ile137Ser p.Ile137Ser 2 365 3' 87.7812 7.10505 0.848674 11.0357 87.7812 7.10505 0.848674 11.0357 0 0.000416 0.003030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003030 1 1 0 0 0 0 0 0 0 2402 330 114 18 54 14 1288 492 92 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -1.812 I Ile ATC 0.481 S Ser AGC 0.243 137 15 1 -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 159.86 0.00 Tolerated 0.81 II.77 111 PASS . . . . . . . . . . . ENSG00000205718:ENST00000381394:exon2:c.T410G:p.I137S MBD3L4:uc021unr.1:exon2:c.T410G:p.I137S MBD3L4:NM_001164419:exon2:c.T410G:p.I137S . . 1.0 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.026 . . 5.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I137S|MBD3L4|mRNA|CODING|NM_001164419|NM_001164419.ex.2) . . . . . . . -1.6900 -1.818 -1.690 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.101 @ . . . . . . ENSG00000205718 MBD3L4 MBD3L4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.033 . . . . D 0.803 0.121 . . 37 . 0.067 . . 0.174 . . . 0.004 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.037 . HOM 0.69 . . . . . . . . . . . . . . . ENST00000381394 0.426 -0.852 . 1.000000 . . . . . . 0.003 . . . . 0 0 . 0 . 0 0 0 0.0030 0.0004 0 0 0 0 0 0 . . 0.133 . -1.872 -1.872000 . . 1.000000 . . 1.0E-111 0.000 0.063 . 0.043 0.001 . 0.037 . 0.104 -1.872 -1.756 . rs2434949 rs2434949 rs2434949 rs2434949 1 1538 255 1.I 0,0,255 +rs758476626 19 7056567 A G - MBD3L3 37205 Methyl-CpG binding domain protein 3-like 3 NM_001164425.1 -1 773 627 NP_001157897.1 A6NE82 substitution synonymous exon GRCh37 7056567 7056567 Chr19(GRCh37):g.7056567A>G 393 393 NM_001164425.1:c.393T>C p.Gly131= p.Gly131Gly 2 348 3' 87.7812 7.10505 0.848674 11.0357 87.7812 7.10505 0.848674 11.0357 0 rs758476626 yes no Frequency 1 0.000000 0 0.000016 0.000000 0.000090 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000090 4 0 3 0 0 0 1 0 0 244700 15002 33486 9808 17184 30712 110788 22284 5436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 3 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 138 Exomes transition T C T>C 0.000 -2.377 G Gly GGT 0.162 G Gly GGC 0.342 131 255 PASS . . . . . . . . . . . ENSG00000182315:ENST00000333843:exon2:c.T393C:p.G131G MBD3L3:uc021uns.1:exon2:c.T393C:p.G131G MBD3L3:NM_001164425:exon2:c.T393C:p.G131G . . 0.5 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.7468 . . . . . . . . 7.985e-06 . . . 0 1.175e-05 0 0 0 2.521e-05 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000182315 MBD3L3 MBD3L3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs758476626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.635e-05 8.959e-05 0 0 0 9.026e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs141309384 19 7710134 C T - STXBP2 11445 Syntaxin binding protein 2 NM_001272034.1 1 1928 1815 NP_001258963.1 substitution missense exon GRCh37 7710134 7710134 Chr19(GRCh37):g.7710134C>T 1331 1331 NM_001272034.1:c.1331C>T p.Ala444Val p.Ala444Val 15 601717 52 3' 84.429 XI.04 0.972211 XI.64 84.429 XI.04 0.972211 XI.03 0 Cryptic Donor Strongly Activated 7710132 57.2002 4.29111 0.564335 66.9222 Sec1-like protein rs141309384 yes no Frequency/1000G 2 C 0.000000 0 0.005791 0.001500 0.002000 0.000000 0.014900 0.014400 0.008102 0.001593 0.009397 0.003487 0.000063 0.006016 0.012284 0.002282 0.011922 0.012284 1823 31 282 32 1 156 1208 47 66 225006 19458 30008 9176 15964 25932 98340 20592 5536 0.000098 0.000000 0.000133 0.000000 0.000000 0.000231 0.000122 0.000000 0.000000 11 0 2 0 0 3 6 0 0 1801 31 278 32 1 150 1196 47 66 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8474 4382 12856 104 6 110 0.012124 0.00136737 0.00848373 0.012124 0.00136737 0.00848373 28 RCV000174911.2 germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity 1 not specified CM1213192 Haemophagocytic lymphohistiocytosis type 5 22791290 DM? transition C T C>T 0.913 1.013 A Ala GCG 0.107 V Val GTG 0.468 444 12 4 C. elegans 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 172.08 35.60 Tolerated 0.28 3.X 255 PASS 0.0041 0.01 0.02 . 0.01 0.0015 0.0058 0.014 . 0.015 0.002 . . . . . 0.4390244 . . germline 36 . . 1.2.2016 0 0 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.282 . Conflicting//\@interpretations//\@of//\@pathogenicity other RCV000174911.2 not_specified MedGen CN169374 1 0.197 . . 82.0 . . . 0.0014 0.0085 0.012 0.0014 0.0085 0.012 . -0.7941 -0.742 -0.794 c . . . . . 6.194e-03 . . . 0.0017 0.0146 0.0267 0 0.0177 0.0227 0.02 0.0082 0.0018 0.0160 0.0286 0 0.0186 0.0274 0.0114 0.0081 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.772 . . exonic exonic exonic . . 0.340 0.0058 . . . 0.19 0.25 182 ENSG00000076944 STXBP2 STXBP2 . . . 1.000 0.747 . 860 0.0132357 64976 833 0.0138866 59986 Likely_benign . 0 . 0.098 . . . . . . . . . 37 . 0.480 . . 0.469 . . . 0.214 0.265 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.354 . . 0 0 0 0 1 0 . 0.195 . . 0.201 . . . . . . 0 0.138 . . . . . 0.131 . 0.141 . HET 0.33 rs141309384 . . . . . . . 0.008241758241758242 0.0040650406504065045 0.016574585635359115 0.0 0.013192612137203167 IV.46 0.001883 . 4.VIII 3.IV . 0.310000 . . . . 0.008484 . 0.255 . . 3.IV 0.0016 0.0083 0.0095 0.0035 6.973e-05 0.0020 0.0125 0.0125 0.0060 0.0016 0.0068 0.0060 0.0033 0 0.0034 0.0113 0.0092 . . 0.413 . 0.936 0.936000 . . 0.310000 . . 1.0E-255 0.000 0.063 . 0.281 0.978 . 0.299 . 0.362 0.936 0.871 0.02 . . rs141309384 rs141309384 1 1538 10 1/0 0,255,255 +. (chr19:7935547 T/A) 19 7935547 T A Not on a known gene +rs774524340 19 7974990 G A - MAP2K7 6847 Mitogen-activated protein kinase kinase 7 NM_001297555.1 1 3525 1308 NP_001284484.1 substitution synonymous exon GRCh37 7974990 7974990 Chr19(GRCh37):g.7974990G>A 357 357 NM_001297555.1:c.357G>A p.Thr119= p.Thr119Thr 4 603014 -25 5' 71.1898 7.87896 0.802184 XI.54 71.1898 7.87896 0.802184 XI.31 0 rs774524340 yes no Frequency 1 G 0.000000 0 0.000017 0.000070 0.000000 0.000000 0.000060 0.000034 0.000009 0.000000 0.000000 0.000070 4 1 0 0 1 1 1 0 0 234996 14228 31614 9350 16728 29774 106642 21460 5200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes COSM5569047 Prostate 0.000549 1822 transition G A G>A 0.228 -1.893 T Thr ACG 0.116 T Thr ACA 0.280 119 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.5316 . . . . . . . . 2.400e-05 . . . 0.0002 4.696e-05 0 0.0002 0 0 0 7.964e-05 0.0002 4.191e-05 0 0.0002 0 0 0 8.003e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000076984 MAP2K7 MAP2K7 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs774524340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.028e-05 1.702e-05 0 0 5.978e-05 0 9.377e-06 0 3.359e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs151062338 19 8200976 G A - FBN3 18794 Fibrillin 3 NM_001321431.1 -1 9087 8430 NP_001308360.1 Q75N90 substitution intron GRCh37 8200976 8200976 Chr19(GRCh37):g.8200976G>A 1466-6 1466-6 NM_001321431.1:c.1466-6C>T p.? p.? 13 12 608529 -6 3' 81.8298 13.5903 0.957853 16.8026 83.933 XI.78 0.958138 15.449 -0.033091 rs151062338 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.001500 0.002000 0.000000 0.006000 0.000000 0.005780 0.001668 0.004682 0.019486 0.000053 0.003547 0.006299 0.009408 0.008230 0.019486 1597 40 161 197 1 109 794 242 53 276294 23982 34390 10110 18862 30730 126058 25722 6440 0.000058 0.000000 0.000000 0.000198 0.000000 0.000065 0.000032 0.000311 0.000000 8 0 0 1 0 1 2 4 0 1581 40 161 195 1 107 790 234 53 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4398 12941 57 8 65 0.00662791 0.00181571 0.00499769 0.00662791 0.00181571 0.00499769 58 transition C T C>T 0.000 0.851 255 PASS 0.002 0.0032 . . 0.01 0.0015 0.002 . . 0.006 0.002 . . . . . 0.44537815 . . @ 106 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 238.0 . . INTRON(MODIFIER||||FBN3|mRNA|CODING|NM_032447|) 0.0018 0.005 0.0066 0.0018 0.005 0.0066 . 0.5592 . . . . . . . . 5.501e-03 . . . 0.0018 0.0059 0.0042 0 0.0114 0.0087 0.0072 0.0029 0.0019 0.0051 0.0042 0 0.0107 0.0065 0.0060 0.0029 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.37 0.42 182 ENSG00000142449 FBN3 FBN3 . . . . . . 391 0.00601761 64976 381 0.00635148 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151062338 . . . . . . . . . . . . . . . . . . . . 0 0.044 . 0.004998 . . . . 3.XII 0.0018 0.0058 0.0047 0.0196 0 0.0093 0.0063 0.0077 0.0035 0.0015 0.0053 0.0048 0.0166 0.0006 0.0100 0.0064 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151062338 rs151062338 1 1538 10 1/0 0,215,231 +rs61729623 19 8203392 G C - FBN3 18794 Fibrillin 3 NM_001321431.1 -1 9087 8430 NP_001308360.1 Q75N90 substitution missense exon GRCh37 8203392 8203392 Chr19(GRCh37):g.8203392G>C 922 922 NM_001321431.1:c.922C>G p.Leu308Val p.Leu308Val 9 608529 57 3' 88.3733 X.73 0.954833 X.91 88.3733 X.73 0.954833 X.23 0 rs61729623 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.001500 0.003100 0.000000 0.008000 0.001400 0.007870 0.001733 0.006467 0.019590 0.000053 0.004394 0.010043 0.009685 0.010675 0.019590 2135 41 222 197 1 135 1234 237 68 271290 23662 34328 10056 18802 30724 122876 24472 6370 0.000125 0.000000 0.000117 0.000199 0.000000 0.000065 0.000163 0.000245 0.000000 17 0 2 1 0 1 10 3 0 2101 41 218 195 1 133 1214 231 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8510 4393 12903 90 9 99 0.0104651 0.00204453 0.00761421 0.0104651 0.00204453 0.00761421 25 transversion C G C>G 0.953 1.174 L Leu CTC 0.197 V Val GTC 0.240 308 12 8 Tetraodon 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS 0.002 0.0041 0.0028 . 0.01 0.0015 0.0028 0.0014 . 0.008 0.0031 . FBN3:uc002mjf.3:exon8:c.C922G:p.L308V FBN3:NM_032447:exon8:c.C922G:p.L308V . . 0.5652174 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.509 . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Gtc|L308V|FBN3|mRNA|CODING|NM_032447|NM_032447.ex.8) 0.002 0.0076 0.011 0.002 0.0076 0.011 . -0.6666 -0.733 -0.667 c . . . . . 7.533e-03 . . . 0.0020 0.0081 0.0064 0 0.0123 0.0126 0.0127 0.0038 0.0022 0.0075 0.0063 0 0.0124 0.0104 0.0117 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.948 . . exonic exonic exonic . . 0.234 0.0028 . . . 0.18 0.36 182 ENSG00000142449 FBN3 FBN3 . . . 0.000 0.066 . 536 0.0082492 64976 523 0.0087187 59986 Likely_benign . 0 . 0.457 . . . . . . . . . 37 . 0.869 . . 0.763 . . . 0.440 0.242 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.485 . . 0 0 0 0 0 0 . 0.351 . . 0.300 . . . . . . 0 0.555 . . . . . 0.393 . 0.210 . HET 0.04 rs61729623 . . . . . . . 0.004120879120879121 0.0020325203252032522 0.0027624309392265192 0.0 0.009234828496042216 IX.13 0.00241 ENST00000270509 4.VI I.72 . 0.430000 Q75N90 . . Name\x3dnsv469677 0.007614 . 0.478 . . . 0.0019 0.0079 0.0064 0.0197 0 0.0094 0.0100 0.0098 0.0044 0.0015 0.0076 0.0072 0.0166 0.0006 0.0112 0.0105 0.0153 . . 0.406 . 0.235 0.235000 . . 0.430000 . . 1.0E-255 0.994 0.380 . 0.062 0.533 . 0.417 . 0.121 0.235 0.693 0.011 rs61729623 rs61729623 rs61729623 rs61729623 1 1538 10 1/0 0,255,255 +rs201475294 19 8389377 C T - KANK3 24796 KN motif and ankyrin repeat domains 3 NM_198471.2 -1 2787 2466 NP_940873.2 substitution missense exon GRCh37 8389377 8389377 Chr19(GRCh37):g.8389377C>T 2338 2338 NM_198471.2:c.2338G>A p.Ala780Thr p.Ala780Thr 10 614611 -45 5' 89.8591 9.60237 0.996115 10.1529 89.8591 9.60237 0.996115 9.94075 0 Ankyrin repeat-containing domain rs201475294 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000572 0.000085 0.000176 0.007791 0.000054 0.000000 0.000532 0.000000 0.000472 0.007791 156 2 6 78 1 0 66 0 3 272620 23642 34136 10012 18658 30410 124164 25240 6358 0.000015 0.000000 0.000000 0.000400 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 0 2 0 0 0 0 0 152 2 6 74 1 0 66 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4404 12996 8 0 8 0.000930233 0 0.000615195 0.000930233 0 0.000615195 23 COSM1003513 Endometrium 0.001524 656 transition G A G>A 0.827 2.546 A Ala GCT 0.263 T Thr ACT 0.243 780 13 8 Mouse 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 240.36 8.IX Tolerated 0.27 II.84 good 5.396E-2 0.04679 255 PASS . . . . . . 0.0002 . . 0.001 . . KANK3:uc010dwa.3:exon10:c.G2338A:p.A780T KANK3:NM_198471:exon10:c.G2338A:p.A780T . . 0.42741936 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.519 . @ . . . . . 1 0.638 . . 124.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . -0.5003 -0.509 -0.500 c . . . . . 4.896e-04 . . . 0 0.0007 0.0001 0.0002 0 0.0015 0 0 0 0.0006 0.0001 0.0002 0 0.0011 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.531 . . exonic exonic exonic . . 0.413 0.0002 . . . 0.37 0.44 182 ENSG00000186994 KANK3 KANK3 . . . 1.000 0.747 . 28 0.000430928 64976 27 0.000450105 59986 Uncertain_significance . 0 . . . . . . T 0.459 0.023 . . 37 . 0.283 . . 0.275 . . . 0.181 0.335 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.202 . . 0 0 0 0 0 0 . 0.432 . . 0.390 . . . . . . 1 0.446 . . . . . 0.246 . 0.184 . HET 0.09 rs201475294 . . . . . . . . . . . . 7.1544 0.0 ENST00000330915 IV.72 III.69 . 0.430000 Q6NY19-2 . . . 0.000615 . 0.400 . . III.69 6.702e-05 0.0006 0.0002 0.0078 5.87e-05 0 0.0006 0.0006 0 0.0001 0.0002 0 0.0066 0 0 0.0002 0 . . 0.522 . 1.204 1.204000 . . 0.430000 . . 1.0E-255 0.945 0.326 . 0.209 0.985 . 0.453 . 0.140 1.204 0.871 0.0009 . . rs201475294 rs201475294 1 1538 10 1/0 0,243,255 +. 19 8429306 G C - ANGPTL4 16039 Angiopoietin-like 4 NM_139314.2 1 1905 1221 NP_647475.1 Q9BY76 substitution missense exon GRCh37 8429306 8429306 Chr19(GRCh37):g.8429306G>C 101 101 NM_139314.2:c.101G>C p.Arg34Pro p.Arg34Pro 1 605910 -218 5' 89.2147 X.47 0.990074 13.198 89.2147 X.47 0.990074 13.198 0 transversion G C G>C 0.898 0.851 R Arg CGC 0.190 P Pro CCC 0.328 34 13 6 Cow -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Deleterious 0.03 III.33 255 PASS . . . . . . . . . . . . . . . . 0.45783132 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.552 . @ . . . . . 1 0.457 . . 83.0 . . . . . . . . . . 0.1852 0.099 0.185 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.746 . . exonic exonic exonic . . 0.310 @ . . . . . . ENSG00000167772 ANGPTL4 ANGPTL4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . D 0.939 0.425 . . 37 . 0.721 . . 0.720 . . . 0.549 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.595 . . 0 0 0 0 0 0 . 0.615 . . 0.528 . . . . . . 0 0.682 . . . . . 0.113 . 0.646 . HET 0.01 . . . . . . . . . . . . . IV.73 . . IV.95 II.72 . 0.000000 . . . . . . 0.367 . . II.72 . . . . . . . . . . . . . . . . . . . 0.477 . 1.083 1.083000 . . 0.000000 . . 1.0E-255 0.998 0.411 . 0.225 0.586 . 0.370 . 0.336 1.083 0.913 . . . . . 1 1538 10 1/0 0,255,255 +rs370365380 19 8431073 C T - ANGPTL4 16039 Angiopoietin-like 4 NM_139314.2 1 1905 1221 NP_647475.1 Q9BY76 substitution intron GRCh37 8431073 8431073 Chr19(GRCh37):g.8431073C>T 430-13 430-13 NM_139314.2:c.430-13C>T p.? p.? 3 2 605910 -13 3' 69.4937 8.11296 0.836568 12.0225 72.6094 8.58213 0.915807 XII.92 0.0657944 Cryptic Acceptor Weakly Activated 8431086 8.11296 0.836568 69.4937 8.58213 0.915807 72.6094 rs370365380 yes no Frequency 1 C 0.000000 0 0.000029 0.000042 0.000029 0.000197 0.000000 0.000000 0.000032 0.000000 0.000000 0.000197 8 1 1 2 0 0 4 0 0 277008 23954 34418 10150 18860 30782 126660 25718 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 2 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 81 transition C T C>T 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.4785276 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.0446 . . . . . . . . 3.947e-05 . . . 0 5.519e-05 0 0 0 0.0001 0 0 0 2.826e-05 0 0 0 5.522e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.27 182 ENSG00000167772 ANGPTL4 ANGPTL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370365380 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 6.546e-05 2.844e-05 2.978e-05 0.0001 0 0 3.582e-05 0 0 0 3.237e-05 0 0.0033 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs370365380 rs370365380 1 1538 10 1/0 0,237,255 +. 19 8591921 CT C - MYO1F 7600 Myosin IF NM_012335.3 -1 4173 3297 NP_036467.2 O00160 deletion intron GRCh37 8591922 8591922 Chr19(GRCh37):g.8591922del 2475-103 2475-103 NM_012335.3:c.2475-103del p.? p.? 23 22 601480 -103 3' 72.6688 7.0549 0.737063 VI.48 72.6688 7.0549 0.737063 VI.48 0 rs140776818 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.005000 0.005800 0.003304 0.000574 0.005967 0.000000 0.000000 0.000000 0.004813 0.004014 0.006122 0.005967 102 5 5 0 0 0 72 14 6 30876 8706 838 302 1602 0 14960 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102 5 5 0 0 0 72 14 6 0 0 0 0 0 0 0 0 0 PASS 40 Genomes A 255 Pass . . . . . . 0.0018 0.0058 . 0.005 . . . . . . 0.53409094 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 88 . . INTRON(MODIFIER||||MYO1F|mRNA|CODING|NM_012335|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000142347 MYO1F MYO1F . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140776818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0033 0.0060 0 0 0.0040 0.0048 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs140776818 rs140776818 1 1538 10 1.I 0,12,27 +. 19 8993230 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 8993230 8993230 Chr19(GRCh37):g.8993230C>T 41716+143 41716+143 NM_024690.2:c.41716+143G>A p.? p.? 66 66 606154 143 5' 81.0413 8.27203 0.960206 7.03995 81.0413 8.27203 0.960206 7.03995 0 transition G A G>A 0.000 1.013 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.0059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs202176847 19 8993231 T A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 8993231 8993231 Chr19(GRCh37):g.8993231T>A 41716+142 41716+142 NM_024690.2:c.41716+142A>T p.? p.? 66 66 606154 142 5' 81.0413 8.27203 0.960206 7.03995 81.0413 8.27203 0.960206 7.03995 0 0.000242 0.001016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001016 4 4 0 0 0 0 0 0 0 16540 3936 282 286 686 0 9688 1166 496 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 94 Genomes transversion A T A>T 0.000 -1.086 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.1849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.28 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 19 8997507 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8997507 8997507 Chr19(GRCh37):g.8997507G>A 40915 40915 NM_024690.2:c.40915C>T p.Leu13639Phe p.Leu13639Phe 59 606154 30 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.344357 5.98819 0 SEA domain 0.006998 0.008873 0.014778 0.000000 0.014039 0.000000 0.004290 0.015823 0.005208 0.015823 137 43 6 0 13 0 47 25 3 19578 4846 406 288 926 0 10956 1580 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 137 43 6 0 13 0 47 25 3 0 0 0 0 0 0 0 0 0 RF 74 Genomes transition C T C>T 0.039 -0.360 L Leu CTC 0.197 F Phe TTC 0.546 13639 12 5 Cow 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Deleterious 0.02 IV.32 211 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.C40915T:p.L13639F . . 0.18699187 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.246 . @ . . . . . 1 0.656 . . 123.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L13639F|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -0.8814 -1.086 -0.881 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.563 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.500 0.027 . . 37 . 0.573 . . 0.551 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.427 . . 0 0 0 0 0 0 . 0.588 . . 0.715 . . . . . . 0 0.280 . . . . . 0.004 . 0.348 . HET 0.01 . . . . . . . . . . . . . 0.4094 . . II.86 -2.05 . 0.060000 . . . . . . 0.072 . . . . . . . . . . . . 0.0089 0.0070 0.0148 0 0.0140 0.0158 0.0043 0.0052 . . 0.133 . -0.330 -0.330000 . . 0.060000 . . 1.0E-211 0.002 0.151 . 0.215 0.351 . 0.134 . 0.055 -0.330 -0.540 . . . . . 1 1538 10 1/0 0,225,255 +. 19 8997508 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 8997508 8997508 Chr19(GRCh37):g.8997508A>G 40914 40914 NM_024690.2:c.40914T>C p.Thr13638= p.Thr13638Thr 59 606154 29 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.344357 6.51768 0 SEA domain 0.000358 0.000524 0.000000 0.000000 0.000736 0.000000 0.000217 0.000635 0.000000 0.000736 10 4 0 0 1 0 3 2 0 27918 7630 748 298 1358 0 13846 3152 886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 4 0 0 1 0 3 2 0 0 0 0 0 0 0 0 0 0 RF 52 Genomes transition T C T>C 0.000 -1.328 T Thr ACT 0.243 T Thr ACC 0.361 13638 185 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.T40914C:p.T13638T . . 0.12396694 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 121.0 . . SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T13638|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -1.5632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . VI.77 . ENST00000542240 II.86 -5.72 . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0004 0 0 0.0007 0.0006 0.0002 0 . . . . -1.351 -1.351000 . . . . . 1.0E-185 . . . . . . . . . -1.351 . . . . . . 1 1538 10 1/0 0,220,255 +. 19 8997515 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8997515 8997515 Chr19(GRCh37):g.8997515A>G 40907 40907 NM_024690.2:c.40907T>C p.Leu13636Pro p.Leu13636Pro 59 606154 22 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.344357 7.06156 0 SEA domain 0.007650 0.012948 0.014205 0.000000 0.021341 0.000000 0.004049 0.013595 0.003953 0.021341 132 52 5 0 14 0 41 18 2 17256 4016 352 276 656 0 10126 1324 506 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132 52 5 0 14 0 41 18 2 0 0 0 0 0 0 0 0 0 RF 82 Genomes transition T C T>C 0.000 -0.279 L Leu CTA 0.070 P Pro CCA 0.274 13636 12 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Deleterious 0.04 IV.32 199 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.T40907C:p.L13636P . . 0.15789473 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.101 . . 95.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTa/cCa|L13636P|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -0.8964 -1.106 -0.896 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.334 . . exonic exonic exonic . . 0.077 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.130 0.005 . . 37 . 0.306 . . 0.402 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . 0.657 . . 0.764 . . . . . . 0 0.025 . . . . . 0.194 . 0.206 . HET 0.16 . . . . . . . . . . . . . 6.1512 . ENST00000542240 II.86 -1.69 . 0.420000 . . . . . . 0.004 . . . . . . . . . . . . 0.0129 0.0076 0.0142 0 0.0213 0.0136 0.0040 0.0040 . . 0.133 . -0.266 -0.266000 . . 0.420000 . . 1.0E-199 0.000 0.063 . 0.016 0.002 . 0.058 . 0.062 -0.266 -0.592 . . . . . 1 1538 10 1/0 0,234,255 +rs762059355 19 8997517 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 8997517 8997517 Chr19(GRCh37):g.8997517C>T 40905 40905 NM_024690.2:c.40905G>A p.Val13635= p.Val13635Val 59 606154 20 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.431899 6.59631 0.0847396 Cryptic Donor Strongly Activated 8997520 0.005342 58.6196 3.09734 0.170157 62.982 SEA domain rs762059355 yes no Frequency 1 0.000000 0 0.000381 0.002126 0.000177 0.000000 0.000667 0.000033 0.000253 0.000335 0.000165 0.002126 101 42 6 0 12 1 31 8 1 264756 19756 33900 10108 17998 30746 122336 23866 6046 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 42 6 0 12 1 31 8 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 V Val GTG 0.468 V Val GTA 0.114 13635 200 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.G40905A:p.V13635V . . 0.15841584 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V13635|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -1.1691 . . . . . . . . 1.596e-05 . . . 0.0001 2.22e-05 0 0 0 0 0 6.06e-05 0.0001 1.895e-05 0 0 0 0 0 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762059355 . . . . . . . . . . . . 0.5816 . ENST00000542240 II.86 -4.35 . . . . . . . . . . . . 6.541e-05 8.133e-06 0 0 0 0 0 0 3.252e-05 0.0092 0.0053 0.0149 0 0.0157 0.0051 0.0029 0.0017 . . . . -0.861 -0.861000 . . . . . 1.0E-200 . . . . . . . . . -0.861 . . . . . . 1 1538 10 1/0 0,231,255 +. 19 8997519 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8997519 8997519 Chr19(GRCh37):g.8997519C>T 40903 40903 NM_024690.2:c.40903G>A p.Val13635Met p.Val13635Met 59 606154 18 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.171361 6.79789 -0.167458 SEA domain 0.004688 0.008478 0.013333 0.000000 0.015000 0.000000 0.002266 0.004582 0.001656 0.015000 92 40 6 0 12 0 25 8 1 19626 4718 450 276 800 0 11032 1746 604 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 92 40 6 0 12 0 25 8 1 0 0 0 0 0 0 0 0 0 RF 71 Genomes transition G A G>A 0.000 -0.682 V Val GTG 0.468 M Met ATG 1.000 13635 12 5 Cow 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0.01 IV.32 200 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.G40903A:p.V13635M . . 0.16 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.265 . @ . . . . . 1 0.425 . . 100.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V13635M|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -1.4948 -1.628 -1.495 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.425 . . exonic exonic exonic . . 0.066 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.306 0.012 . . 37 . 0.147 . . 0.299 . . . 0.027 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.285 . . 0 0 0 0 0 0 . 0.657 . . 0.719 . . . . . . 0 0.144 . . . . . 0.094 . 0.106 . HET 0.13 . . . . . . . . . . . . . 4.0857 . ENST00000542240 II.86 -2.2 . 0.120000 . . . . . . 0.043 . . . . . . . . . . . . 0.0085 0.0047 0.0133 0 0.015 0.0046 0.0023 0.0017 . . 0.133 . -0.664 -0.664000 . . 0.120000 . . 1.0E-200 0.000 0.063 . 0.016 0.000 . 0.062 . 0.012 -0.664 -0.421 . . . . . 1 1538 10 1/0 0,232,255 +rs200071553 19 8999488 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8999488 8999488 Chr19(GRCh37):g.8999488C>T 40687 40687 NM_024690.2:c.40687G>A p.Asp13563Asn p.Asp13563Asn 56 606154 77 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 X.02 0 SEA domain rs200071553 yes no Frequency 1 C 0.000000 0 0.002119 0.000515 0.003137 0.006372 0.000289 0.004077 0.001887 0.000951 0.003423 0.006372 504 11 90 49 5 102 206 22 19 237880 21342 28686 7690 17294 25018 109166 23134 5550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 504 11 90 49 5 102 206 22 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.929 0.448 D Asp GAC 0.539 N Asn AAC 0.536 13563 12 7 Chicken 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.05 IV.32 184 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.G40687A:p.D13563N . . 0.1221865 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.424 . @ . . . . . 1 0.466 . . 311.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D13563N|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -0.3779 -0.450 -0.378 c . . . . . 8.626e-03 . . . 0.0155 0.0083 0.0047 0.0037 0.0008 0.0062 0.0079 0.0164 0.0152 0.0078 0.0045 0.0098 0.0006 0.0055 0.0083 0.0163 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.205 @ . . . 0.35 0.28 182 ENSG00000181143 MUC16 MUC16 . . . 0.000 0.048 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.435 . . 0.495 . . . 0.420 0.198 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.581 . . 0.701 . . . . . . 0 0.227 . . . . . 0.186 . 0.032 . LowAF 0.36 rs200071553 . . . . . . . . . . . . 5.989 . ENST00000542240 III.48 I.27 . 0.120000 . . . . . . 0.345 . . . 0.0006 0.0024 0.0032 0.0066 0.0003 0.0011 0.0021 0.0041 0.0041 0.0004 0.0003 0 0 0.0007 0 0.0002 0 . . 0.246 . 0.307 0.307000 . . 0.120000 . . 9.999999999999999E-185 0.096 0.225 . 0.225 0.524 . 0.170 . 0.070 0.307 0.871 . . . rs200071553 rs200071553 1 1538 10 1/0 0,179,255 +rs77751609 19 8999500 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8999500 8999500 Chr19(GRCh37):g.8999500T>C 40675 40675 NM_024690.2:c.40675A>G p.Ser13559Gly p.Ser13559Gly 56 606154 65 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 X.33 0 New Acceptor Site 8999499 6.95172 0.276382 72.3003 SEA domain rs77751609 yes no Frequency 1 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 237750 15126 31976 9210 16910 29544 108002 21740 5242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition A G A>G 0.000 0.367 S Ser AGC 0.243 G Gly GGC 0.342 13559 12 4 Chicken 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.08 IV.32 176 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.A40675G:p.S13559G . . 0.104477614 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.030 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S13559G|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -1.4433 -1.388 -1.443 c . . . . . 7.992e-06 . . . 0 1.15e-05 0 0 0 2.421e-05 0 0 0 9.758e-06 0 0 0 1.867e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.165 . . exonic exonic exonic . . 0.209 @ . . . 0.35 0.31 182 ENSG00000181143 MUC16 MUC16 . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.086 0.004 . . 37 . 0.048 . . 0.393 . . . 0.001 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.028 . . 0 0 0 0 0 0 . 0.394 . . 0.575 . . . . . . 0 0.069 . . . . . 0.124 . 0.025 . LowAF 0.81 rs77751609 . . . . . . . . . . . . IV.66 . . III.48 I.33 . 1.000000 . . . . . . 0.004 . . . 0 4.206e-06 0 0 0 0 9.259e-06 0 0 . . . . . . . . . . 0.246 . 0.791 0.791000 . . 1.000000 . . 1.0E-176 0.000 0.063 . 0.016 0.001 . 0.050 . 0.166 0.791 -0.068 . . . rs77751609 rs77751609 1 1538 10 1/0 0,196,255 +rs761586719 19 8999502 T G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8999502 8999502 Chr19(GRCh37):g.8999502T>G 40673 40673 NM_024690.2:c.40673A>C p.Lys13558Thr p.Lys13558Thr 56 606154 63 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 11.0147 0 Cryptic Acceptor Strongly Activated 8999483 0.001124 68.2981 0.10638 0.002132 68.2981 SEA domain rs761586719 yes no Frequency 1 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 239730 15208 32528 9332 17100 29868 108586 21810 5298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 62 Exomes transversion A C A>C 0.000 -2.458 K Lys AAA 0.425 T Thr ACA 0.280 13558 12 3 Cow -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 353.86 0.00 Deleterious 0.02 IV.32 177 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.A40673C:p.K13558T . . 0.10714286 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.098 . @ . . . . . 1 0.072 . . 196.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aCa|K13558T|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -1.6751 -1.850 -1.675 c . . . . . 7.985e-06 . . . 0 1.151e-05 0 0 0 2.422e-05 0 0 0 9.767e-06 0 0 0 1.868e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.291 . . exonic exonic exonic . . 0.015 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.454 0.206 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.107 0.004 . . 37 . 0.242 . . 0.153 . . . 0.112 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.536 . . 0.666 . . . . . . 0 0.093 . . . . . 0.253 . 0.081 . LowAF 0.9 rs761586719 . . . . . . . . . . . . VII.24 . . III.48 -6.96 . 0.680000 . . . . . . 0.010 . . . 0 4.171e-06 0 0 0 0 9.209e-06 0 0 . . . . . . . . . . 0.246 . -2.367 -2.367000 . . 0.680000 . . 1.0E-177 0.000 0.063 . 0.016 0.001 . 0.032 . 0.024 -2.367 -0.913 . . . . . 1 1538 10 1/0 0,198,255 +rs765214169 19 8999503 T G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8999503 8999503 Chr19(GRCh37):g.8999503T>G 40672 40672 NM_024690.2:c.40672A>C p.Lys13558Gln p.Lys13558Gln 56 606154 62 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 X.41 0 Cryptic Acceptor Strongly Activated 8999498 II.59 0.000992 64.2773 3.98423 0.02384 67.1896 SEA domain rs765214169 yes no Frequency 1 T 0.000000 0 0.000102 0.000643 0.000061 0.000000 0.000226 0.000000 0.000034 0.000131 0.000174 0.000643 26 12 2 0 4 0 4 3 1 255272 18672 32744 9554 17736 29820 118128 22864 5754 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 12 2 0 4 0 4 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -1.570 K Lys AAA 0.425 Q Gln CAA 0.256 13558 12 3 Cow 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 353.86 0.00 Deleterious 0.03 IV.32 198 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.A40672C:p.K13558Q . . 0.15422885 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.140 . @ . . . . . 1 0.088 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K13558Q|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -1.2042 -1.450 -1.204 c . . . . . 3.752e-04 . . . 0.0045 0.0005 8.67e-05 0 0 0 0.0015 0 0.0046 0.0004 8.94e-05 0 0 0 0.0015 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.291 . . exonic exonic exonic . . 0.018 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.031 0.140 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.406 0.018 . . 37 . 0.408 . . 0.512 . . . 0.346 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.146 . . 0 0 0 0 0 0 . 0.536 . . 0.666 . . . . . . 0 0.236 . . . . . 0.540 . 0.106 . HET 0.56 rs765214169 . . . . . . . . . . . . 12.302 . . III.48 -6.28 . 0.540000 . . . . . . 0.060 . . . 0 8.355e-06 3.078e-05 0 0 0 9.222e-06 0 0 0.0034 0.0015 0.0039 0 0.0063 0.0028 0.0003 0.0022 . . 0.246 . -1.535 -1.535000 . . 0.540000 . . 1.0E-198 0.000 0.063 . 0.074 0.007 . 0.006 . 0.658 -1.535 0.991 . . . . . 1 1538 10 1/0 0,201,255 +rs762789675 19 8999504 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 8999504 8999504 Chr19(GRCh37):g.8999504G>A 40671 40671 NM_024690.2:c.40671C>T p.Pro13557= p.Pro13557Pro 56 606154 61 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 10.1088 0 Cryptic Acceptor Strongly Activated 8999498 II.59 0.000992 64.2773 II.46 0.001755 66.3806 SEA domain rs762789675 yes no Frequency 1 G 0.000000 0 0.000092 0.000713 0.000061 0.000000 0.000115 0.000000 0.000035 0.000136 0.000000 0.000713 23 12 2 0 2 0 4 3 0 249754 16832 32614 9558 17412 29868 115838 22072 5560 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 12 2 0 2 0 4 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.844 P Pro CCC 0.328 P Pro CCT 0.283 13557 186 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.C40671T:p.P13557P . . 0.12626262 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 198.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P13557|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -1.1333 . . . . . . . . 3.752e-04 . . . 0.0045 0.0005 8.666e-05 0 0 2.425e-05 0.0015 0 0.0046 0.0004 8.935e-05 0 0 0 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs762789675 . . . . . . . . . . . . II.48 . ENST00000542240 III.48 -4.5 . 0.020000 . . . . . . . . . . 0 8.352e-06 3.078e-05 0 0 0 9.22e-06 0 0 0.0072 0.0020 0.0081 0 0.0067 0.0103 0.0004 0 . . . . -0.665 -0.665000 . . 0.020000 . . 1.0E-186 . . . . . . . . . -0.665 . . . . . . 1 1538 10 1/0 0,199,255 +rs752930664 19 8999507 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 8999507 8999507 Chr19(GRCh37):g.8999507A>G 40668 40668 NM_024690.2:c.40668T>C p.Asp13556= p.Asp13556Asp 56 606154 58 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 X.98 0 SEA domain rs752930664 yes no Frequency 1 A 0.000000 0 0.000094 0.000572 0.000061 0.000000 0.000168 0.000034 0.000025 0.000174 0.000000 0.000572 24 11 2 0 3 1 3 4 0 255954 19214 32766 9504 17832 29712 118222 22926 5778 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 11 2 0 3 1 3 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.008 0.125 D Asp GAT 0.461 D Asp GAC 0.539 13556 197 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.T40668C:p.D13556D . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D13556|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -0.8260 . . . . . . . . 3.513e-04 . . . 0.0042 0.0005 8.667e-05 0 0 0 0.0015 0 0.0043 0.0004 8.937e-05 0 0 0 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . 6.155 . ENST00000542240 III.48 -0.0964 . . . . . . . . . . . . 0 1.675e-05 3.079e-05 0 5.84e-05 0 9.25e-06 0 3.366e-05 0.0027 0.0012 0.0035 0 0.0028 0.0034 0.0002 0 . . . . -0.013 -0.013000 . . . . . 1.0E-197 . . . . . . . . . -0.013 . . . . . . 1 1538 10 1/0 0,203,255 +. 19 9000185 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9000185 9000185 Chr19(GRCh37):g.9000185A>G 40572 40572 NM_024690.2:c.40572T>C p.Val13524= p.Val13524Val 55 606154 30 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990512 14.9704 0 SEA domain 0.001630 0.003268 0.003021 0.000000 0.004244 0.000000 0.000748 0.000738 0.001214 0.004244 42 22 2 0 5 0 10 2 1 25766 6732 662 290 1178 0 13370 2710 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 22 2 0 5 0 10 2 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition T C T>C 0.000 -1.005 V Val GTT 0.178 V Val GTC 0.240 13524 255 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.T40572C:p.V13524V . . 0.3442623 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 183.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V13524|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -0.9662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VI.55 . ENST00000542240 2.IX -5.79 . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0016 0.0030 0 0.0042 0.0007 0.0007 0.0012 . . . . -1.446 -1.446000 . . . . . 1.0E-255 . . . . . . . . . -1.446 . . . . . . 1 1538 10 1/0 0,221,255 +. 19 9000187 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9000187 9000187 Chr19(GRCh37):g.9000187C>T 40570 40570 NM_024690.2:c.40570G>A p.Val13524Ile p.Val13524Ile 55 606154 28 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990512 13.8752 0 SEA domain rs994308141 yes no Frequency 1 0.000000 0 0.001815 0.003492 0.003106 0.000000 0.004401 0.000000 0.000908 0.001130 0.001214 0.004401 46 23 2 0 5 0 12 3 1 25346 6586 644 290 1136 0 13212 2654 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 23 2 0 5 0 12 3 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition G A G>A 0.000 -0.844 V Val GTT 0.178 I Ile ATT 0.356 13524 12 3 Pig 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.08 IV.32 254 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.G40570A:p.V13524I . . 0.3189189 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.302 . @ . . . . . 1 0.074 . . 185.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V13524I|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -1.0836 -1.286 -1.084 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.031 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.061 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.101 0.004 . . 37 . 0.237 . . 0.354 . . . 0.339 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.466 . . 0.613 . . . . . . 0 0.043 . . . . . 0.010 . 0.134 . HET 0.78 . . . . . . . . . . . . . 0.7772 . . 2.IX -4.61 . 0.830000 . . . . . . 0.009 . . . . . . . . . . . . 0.0035 0.0018 0.0031 0 0.0044 0.0011 0.0009 0.0012 . . 0.246 . -0.690 -0.690000 . . 0.830000 . . 1.0000000000000001E-254 0.000 0.063 . 0.180 0.016 . 0.008 . 0.009 -0.690 -0.523 . . . . . 1 1538 10 1/0 0,218,255 +. 19 9000194 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9000194 9000194 Chr19(GRCh37):g.9000194G>A 40563 40563 NM_024690.2:c.40563C>T p.Asn13521= p.Asn13521Asn 55 606154 21 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990512 13.9971 0 SEA domain 0.002357 0.005561 0.003268 0.000000 0.003559 0.000000 0.000764 0.002268 0.001256 0.005561 59 36 2 0 4 0 10 6 1 25030 6474 612 290 1124 0 13088 2646 796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 36 2 0 4 0 10 6 1 0 0 0 0 0 0 0 0 0 RF 61 Genomes transition C T C>T 0.000 -0.844 N Asn AAC 0.536 N Asn AAT 0.464 13521 255 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.C40563T:p.N13521N . . 0.3556701 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 194.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N13521|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -0.9442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . 3.1249 . ENST00000542240 2.IX -5.79 . . . . . . . . . . . . . . . . . . . . . 0.0056 0.0024 0.0033 0 0.0036 0.0023 0.0008 0.0013 . . . . -0.699 -0.699000 . . . . . 1.0E-255 . . . . . . . . . -0.699 . . . . . . 1 1538 10 1/0 0,220,255 +rs763196876 19 9000205 C A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9000205 9000205 Chr19(GRCh37):g.9000205C>A 40552 40552 NM_024690.2:c.40552G>T p.Val13518Leu p.Val13518Leu 55 606154 10 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.989717 14.123 -0.000267538 Cryptic Acceptor Strongly Activated 9000196 0.186643 0.014444 67.4961 0.405381 0.085917 72.9314 SEA domain 0.007247 0.022633 0.011416 0.000000 0.011364 0.000000 0.002095 0.007431 0.001792 0.022633 125 76 5 0 8 0 21 14 1 17248 3358 438 284 704 0 10022 1884 558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 76 5 0 8 0 21 14 1 0 0 0 0 0 0 0 0 0 RF 89 Genomes transversion G T G>T 0.000 -1.732 V Val GTG 0.468 L Leu TTG 0.127 13518 12 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.G40552T:p.V13518L . . 0.3736842 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.028 . . 190.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V13518L|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -1.9406 -2.096 -1.941 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.057 . . exonic exonic exonic . . 0.030 @ . . . 0.29 0.25 182 ENSG00000181143 MUC16 MUC16 . . . 0.002 0.087 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.129 0.005 . . 37 . 0.074 . . 0.359 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . 0.329 . . 0.465 . . . . . . 0 0.010 . . . . . 0.008 . 0.098 . HET 1 . . . . . . . . . . . . . 0.6851 . . 2.IX -4.77 . . . . . . . . 0.004 . . . . . . . . . . . . 0.0226 0.0072 0.0114 0 0.0114 0.0074 0.0021 0.0018 . . 0.246 . -2.200 -2.200000 . . . . . 1.0E-255 0.000 0.063 . 0.043 0.003 . 0.015 . 0.003 -2.200 -1.917 . . . . . 1 1538 10 1/0 0,220,248 +. 19 9000206 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9000206 9000206 Chr19(GRCh37):g.9000206A>G 40551 40551 NM_024690.2:c.40551T>C p.Pro13517= p.Pro13517Pro 55 606154 9 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990654 14.5834 4.77867e-05 SEA domain 0.008034 0.025213 0.011364 0.000000 0.014493 0.000000 0.002213 0.008108 0.003584 0.025213 137 83 5 0 10 0 22 15 2 17052 3292 440 282 690 0 9940 1850 558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 137 83 5 0 10 0 22 15 2 0 0 0 0 0 0 0 0 0 RF 90 Genomes transition T C T>C 0.000 -0.763 P Pro CCT 0.283 P Pro CCC 0.328 13517 255 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.T40551C:p.P13517P . . 0.4300518 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 193.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P13517|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -1.3950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.22 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . III.78 . ENST00000542240 2.IX -2.34 . . . . . . . . . . . . . . . . . . . . . 0.0252 0.0080 0.0114 0 0.0145 0.0081 0.0022 0.0036 . . . . -0.564 -0.564000 . . . . . 1.0E-255 . . . . . . . . . -0.564 . . rs4994075 rs4994075 rs4994075 rs4994075 1 1538 10 1/0 0,225,250 +rs73003709 19 9000240 G T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9000240 9000240 Chr19(GRCh37):g.9000240G>T 40543-26 40543-26 NM_024690.2:c.40543-26C>A p.? p.? 55 54 606154 -26 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990512 13.9692 0 9000241 -9.1738 rs73003709 yes no Frequency/1000G 2 0.000000 0 0.000971 0.003501 0.000000 0.000000 0.005208 0.000000 0.000263 0.005236 0.000000 0.005236 10 5 0 0 1 0 2 2 0 10302 1428 150 258 192 0 7614 382 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 5 0 0 1 0 2 2 0 0 0 0 0 0 0 0 0 0 RF 166 Genomes transversion C A C>A 0.000 -0.117 185 PASS . . . . . . . . . . . . . . . . 0.3084577 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 201.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.3335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.2 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73003709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0010 0 0 0.0052 0.0052 0.0003 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . rs73003709 rs73003709 rs73003709 1 1538 10 1/0 0,219,255 +. 19 9006426 G T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9006426 9006426 Chr19(GRCh37):g.9006426G>T 39607-15 39607-15 NM_024690.2:c.39607-15C>A p.? p.? 45 44 606154 -15 3' 76.9798 X.63 0.948076 10.1567 76.9798 9.23859 0.837802 8.35598 -0.0733041 transversion C A C>A 0.000 0.609 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 207.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.0012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs200457085 19 9006633 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9006633 9006633 Chr19(GRCh37):g.9006633G>A 39606+9 39606+9 NM_024690.2:c.39606+9C>T p.? p.? 44 44 606154 9 5' 86.16 9.44859 0.982293 8.41444 86.16 9.44859 0.982293 7.99264 0 rs200457085 no no 0 0.000000 0 0.000016 0.000065 0.000000 0.000000 0.000000 0.000000 0.000026 0.000000 0.000000 0.000065 4 1 0 0 0 0 3 0 0 246272 15336 32016 9586 16956 29358 115508 22024 5488 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 198 PASS . . . . . . . . . . . . . . . . 0.15436241 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.0199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.37 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200457085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.177e-06 0 0 0 0 9.153e-06 0 0 0.0077 0.0004 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . rs73005867 rs200457085 rs200457085 1 1538 10 1/0 0,214,255 +rs78452463 19 9006657 A C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9006657 9006657 Chr19(GRCh37):g.9006657A>C 39591 39591 NM_024690.2:c.39591T>G p.Ser13197Arg p.Ser13197Arg 44 606154 -16 5' 86.16 9.44859 0.982293 8.41444 86.16 9.44859 0.982293 8.32081 0 SEA domain rs78452463 yes no Frequency/1000G 2 0.000000 0 0.000192 0.001303 0.000032 0.000000 0.000000 0.000000 0.000165 0.000317 0.000000 0.001303 47 20 1 0 0 0 19 7 0 244270 15344 31184 9558 16624 28806 115284 22068 5402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 20 1 0 0 0 19 7 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -0.844 S Ser AGT 0.149 R Arg AGG 0.207 13197 12 2 Pig -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0.04 IV.32 214 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon44:c.T39591G:p.S13197R . MUC16:NM_024690:exon44:c.T39591G:p.S13197R . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.001 . . 146.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S13197R|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.44) . . . . . . . -1.7194 -1.901 -1.719 c . . . . . 7.978e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.293 . . exonic exonic exonic . . 0.054 @ . . . 0.44 0.34 182 ENSG00000181143 MUC16 MUC16 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.185 . . 0.246 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.026 . . 0 0 0 0 0 0 . 0.209 . . 0.254 . . . . . . 0 0.010 . . . . . 0.011 . 0.147 . HET 1 rs78452463 . . . . . . . . . . . . 0.8599 . ENST00000542240 II.99 -2.8 . 0.000000 B5ME49 . . . . . 0.005 . . . 0 8.427e-06 0 0 0 0 1.834e-05 0 0 0.1136 0.0065 0.0143 0 0 0.1591 0.0027 0 . . 0.246 . -0.874 -0.874000 . . 0.000000 . . 1.0E-214 0.000 0.063 . 0.016 0.001 . 0.000 . 0.021 -0.874 -2.478 . . . rs78452463 rs78452463 1 1538 10 1/0 0,224,255 +rs112279662 19 9009761 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9009761 9009761 Chr19(GRCh37):g.9009761G>A 39014-49 39014-49 NM_024690.2:c.39014-49C>T p.? p.? 39 38 606154 -49 3' 77.6552 VIII.52 0.696177 4.88378 77.6552 VIII.52 0.696177 4.75281 0 rs112279662 yes no Frequency 1 A 0.000000 0 0.000213 0.001039 0.000208 0.000000 0.000353 0.000000 0.000154 0.000084 0.000357 0.001039 53 19 6 0 6 0 18 2 2 248262 18290 28786 9274 17000 28408 117186 23720 5598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 19 6 0 6 0 18 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.005 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.4377 . . . . . . . . 2.319e-04 . . . 0.0004 0.0003 0 0.0004 0 0.0005 0 0 0.0005 0.0002 0 0.0003 0 0.0004 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.16 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112279662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.162e-05 7.05e-05 0 0.0002 0 0 0 0 0.0054 0.0028 0.0096 0 0.0047 0.0012 0.0018 0.0037 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs112279662 rs112279662 1 1538 10 1.I 0,0,0 +rs750193122 19 9012791 G T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012791 9012791 Chr19(GRCh37):g.9012791G>T 38653 38653 NM_024690.2:c.38653C>A p.Arg12885= p.Arg12885Arg 34 606154 -18 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.20946 0 SEA domain rs750193122 yes no Frequency 1 G 0.000000 0 0.000228 0.001294 0.000032 0.000119 0.000644 0.000000 0.000126 0.000089 0.000363 0.001294 55 24 1 1 11 0 14 2 2 241314 18544 31130 8434 17078 26832 111398 22394 5504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 24 1 1 11 0 14 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.086 R Arg CGG 0.207 R Arg AGG 0.207 12885 201 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.C38653A:p.R12885R MUC16:uc002mkp.3:exon34:c.C38653A:p.R12885R MUC16:NM_024690:exon34:c.C38653A:p.R12885R . . 0.18627451 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cgg/Agg|R12885|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -0.4229 . . . . . . . . 0.010 . . . 0.0087 0.0094 0.0108 0.0077 0.0075 0.0073 0.0094 0.0157 0.0096 0.0109 0.0110 0.0078 0.0276 0.0082 0.0147 0.0158 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.08 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs750193122 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.485e-05 0 0.0001 0 4.949e-05 7.905e-05 0 0 0.0061 0.0025 0.0021 0 0.0166 0.0005 0.0006 0.0035 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . 0.011 rs4992698 rs4992698 rs4992698 rs4992698 1 1538 10 1/0 0,203,255 +rs574443275 19 9012795 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012795 9012795 Chr19(GRCh37):g.9012795C>T 38649 38649 NM_024690.2:c.38649G>A p.Thr12883= p.Thr12883Thr 34 606154 -22 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.47845 0 SEA domain rs574443275 yes no Frequency/1000G 2 C 0.000200 T 1 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000272 0.001340 0.000348 0.000231 0.000569 0.000000 0.000104 0.000085 0.000517 0.001340 68 28 11 2 10 0 12 2 3 250400 20900 31620 8656 17574 27210 115188 23452 5800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 28 11 2 10 0 12 2 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -3.588 T Thr ACG 0.116 T Thr ACA 0.280 12883 187 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000181143:ENST00000397910:exon34:c.G38649A:p.T12883T MUC16:uc002mkp.3:exon34:c.G38649A:p.T12883T MUC16:NM_024690:exon34:c.G38649A:p.T12883T . . 0.12886597 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 194.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T12883|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.1480 . . . . . . . . 0.010 . . . 0.0089 0.0093 0.0115 0.0075 0.0072 0.0071 0.0092 0.0154 0.0098 0.0108 0.0118 0.0078 0.0267 0.0080 0.0143 0.0155 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.21 0.13 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs574443275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 8.871e-05 0.0003 0.0002 0.0001 0 2.931e-05 0.0002 0 0.0042 0.0019 0.0015 0 0.0072 0.0007 0.0007 0.0026 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs4992697 rs4992697 rs4992697 rs4992697 1 1538 10 1/0 0,200,255 +rs749421802 19 9012813 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012813 9012813 Chr19(GRCh37):g.9012813G>A 38631 38631 NM_024690.2:c.38631C>T p.Ser12877= p.Ser12877Ser 34 606154 -40 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 2.93569 0 SEA domain rs749421802 yes no Frequency 1 G 0.000000 0 0.000230 0.001531 0.000030 0.000000 0.000441 0.000000 0.000123 0.000121 0.000163 0.001531 61 33 1 0 8 0 15 3 1 265762 21556 33460 9692 18122 29798 122166 24838 6130 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 33 1 0 8 0 15 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.440 S Ser TCC 0.220 S Ser TCT 0.185 12877 183 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.C38631T:p.S12877S MUC16:uc002mkp.3:exon34:c.C38631T:p.S12877S MUC16:NM_024690:exon34:c.C38631T:p.S12877S . . 0.119469024 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S12877|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -0.2704 . . . . . . . . 7.342e-03 . . . 0.0052 0.0064 0.0063 0.0074 0.0032 0.0055 0.0057 0.0099 0.0055 0.0061 0.0063 0.0058 0.0041 0.0052 0.0059 0.0099 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.11 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs749421802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.313e-06 0 0 0 4.57e-05 9.161e-06 0 0 0.0051 0.0023 0.0015 0 0.0075 0.0007 0.0011 0.0013 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs4992696 rs4992696 rs4992696 rs4992696 1 1538 10 1/0 0,193,255 +rs771383463 19 9012816 G T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012816 9012816 Chr19(GRCh37):g.9012816G>T 38628 38628 NM_024690.2:c.38628C>A p.Gly12876= p.Gly12876Gly 34 606154 -43 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.21666 0 SEA domain rs771383463 yes no Frequency 1 G 0.000000 0 0.000254 0.001814 0.000060 0.000000 0.000501 0.000000 0.000116 0.000122 0.000329 0.001814 67 37 2 0 9 0 14 3 2 263500 20398 33586 9788 17954 29948 121154 24600 6072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 37 2 0 9 0 14 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.489 G Gly GGC 0.342 G Gly GGA 0.246 12876 102 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.C38628A:p.G12876G MUC16:uc002mkp.3:exon34:c.C38628A:p.G12876G MUC16:NM_024690:exon34:c.C38628A:p.G12876G . . 0.12970711 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 239.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|G12876|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -0.5667 . . . . . . . . 7.358e-03 . . . 0.0052 0.0065 0.0064 0.0081 0.0037 0.0055 0.0057 0.0100 0.0055 0.0062 0.0064 0.0062 0.0044 0.0054 0.0058 0.0100 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.12 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs771383463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.14e-06 0 0 0 4.549e-05 0 0 0 0.0070 0.0030 0.0035 0 0.0105 0.0008 0.0012 0.0029 . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . . rs4992695 rs4992695 rs4992695 rs4992695 1 1538 10 1/0 0,197,255 +rs4992694 19 9012819 T A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012819 9012819 Chr19(GRCh37):g.9012819T>A 38625 38625 NM_024690.2:c.38625A>T p.Pro12875= p.Pro12875Pro 34 606154 -46 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.56405 0 Cryptic Acceptor Strongly Activated 9012810 0.047005 6.09528 0.330097 78.6683 SEA domain rs4992694 yes no Frequency 1 T 0.000000 0 0.000535 0.003144 0.000149 0.000000 0.001014 0.000000 0.000318 0.000544 0.000847 0.003144 139 60 5 0 18 0 38 13 5 259590 19082 33478 9796 17748 30014 119664 23902 5906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 139 60 5 0 18 0 38 13 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -4.799 P Pro CCA 0.274 P Pro CCT 0.283 12875 228 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.A38625T:p.P12875P MUC16:uc002mkp.3:exon34:c.A38625T:p.P12875P MUC16:NM_024690:exon34:c.A38625T:p.P12875P . . 0.2360515 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 233.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccT|P12875|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.3210 . . . . . . . . 7.398e-03 . . . 0.0055 0.0065 0.0063 0.0074 0.0034 0.0056 0.0057 0.0100 0.0058 0.0062 0.0063 0.0058 0.0043 0.0054 0.0058 0.0100 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.15 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.133e-06 0 0 0 4.543e-05 0 0 0 0.0153 0.0078 0.0114 0 0.0288 0.0063 0.0038 0.0094 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs4992694 rs4992694 rs4992694 rs4992694 1 1538 10 1/0 0,201,255 +rs4992693 19 9012823 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9012823 9012823 Chr19(GRCh37):g.9012823T>C 38621 38621 NM_024690.2:c.38621A>G p.His12874Arg p.His12874Arg 34 606154 -50 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.90727 0 SEA domain rs4992693 yes no Frequency 1 T 0.000000 0 0.000366 0.002556 0.000089 0.000000 0.000721 0.000000 0.000164 0.000203 0.000328 0.002556 97 54 3 0 13 0 20 5 2 265046 21128 33524 9768 18024 30024 121828 24654 6096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 97 54 3 0 13 0 20 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.297 H His CAC 0.587 R Arg CGC 0.190 12874 12 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Not scored 0.0 0.0 193 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.A38621G:p.H12874R MUC16:uc002mkp.3:exon34:c.A38621G:p.H12874R MUC16:NM_024690:exon34:c.A38621G:p.H12874R . . 0.14285715 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.029 . @ . . . . . 1 0.011 . . 238.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H12874R|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -2.1376 -2.244 -2.138 c . . . . . 7.302e-03 . . . 0.0052 0.0065 0.0066 0.0074 0.0034 0.0056 0.0057 0.0099 0.0055 0.0061 0.0066 0.0058 0.0043 0.0053 0.0059 0.0098 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.040 @ . . . 0.24 0.15 182 ENSG00000181143 MUC16 MUC16 . . . 0.002 0.092 . . . . . . . Likely_benign . 0 . . . . . . T 0.015 0.001 . . 37 . 0.132 . . 0.168 . . . 0.096 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.166 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.025 . . . . . 0.023 . 0.339 . LowAF 0.38 rs4992693 . . . . . . . . . . . . I.73 5.97E-4 . I.92 -3.84 . 0.000000 B5ME49 . . . . . 0.013 . . . 0 0 0 0 0 0 0 0 0 0.0090 0.0041 0.0050 0 0.0132 0.0019 0.0016 0.0027 . . 0.246 . -2.521 -2.521000 . . 0.000000 . . 1.0E-193 0.000 0.063 . 0.016 0.001 . 0.000 . 0.001 -2.521 0.084 . rs4992693 rs4992693 rs4992693 rs4992693 1 1538 10 1/0 0,192,255 +. 19 9012826 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9012826 9012826 Chr19(GRCh37):g.9012826T>C 38618 38618 NM_024690.2:c.38618A>G p.His12873Arg p.His12873Arg 34 606154 -53 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.80868 0 SEA domain 0.000577 0.000882 0.000000 0.000000 0.001053 0.000000 0.000508 0.000000 0.001425 0.001053 13 5 0 0 1 0 6 0 1 22520 5666 580 290 950 0 11804 2528 702 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 5 0 0 1 0 6 0 1 0 0 0 0 0 0 0 0 0 RF 66 Genomes transition A G A>G 0.000 -2.377 H His CAT 0.413 R Arg CGT 0.082 12873 12 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Not scored 0.0 0.0 175 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.A38618G:p.H12873R MUC16:uc002mkp.3:exon34:c.A38618G:p.H12873R MUC16:NM_024690:exon34:c.A38618G:p.H12873R . . 0.12252964 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.014 . . 253.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H12873R|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.9334 -2.094 -1.933 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.286 . . exonic exonic exonic . . 0.044 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.002 0.090 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.235 . . 0.050 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.142 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.023 . . . . . 0.407 . 0.104 . LowAF 0.74 . . . . . . . . . . . . . 9.967 . . I.74 -3.49 . 0.000000 B5ME49 . . . . . 0.004 . . . . . . . . . . . . 0.0009 0.0006 0 0 0.0011 0 0.0005 0.0014 . . 0.246 . -2.450 -2.450000 . . 0.000000 . . 1.0E-175 0.000 0.063 . 0.016 0.000 . 0.001 . 0.000 -2.450 -1.357 . . . . . 1 1538 10 1/0 0,188,255 +rs796340878 19 9012896 C G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9012896 9012896 Chr19(GRCh37):g.9012896C>G 38548 38548 NM_024690.2:c.38548G>C p.Ala12850Pro p.Ala12850Pro 34 606154 3 3' 76.836 7.03586 0.870325 6.92892 76.836 6.94578 0.907182 6.96767 0.00984852 rs796340878 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11110 1782 204 268 298 0 7744 526 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 161 Genomes transversion G C G>C 0.000 -3.588 A Ala GCT 0.263 P Pro CCT 0.283 12850 12 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.G38548C:p.A12850P MUC16:uc002mkp.3:exon34:c.G38548C:p.A12850P MUC16:NM_024690:exon34:c.G38548C:p.A12850P . . 0.11020408 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.006 . . 245.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A12850P|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.8020 -1.986 -1.802 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.342 . . exonic exonic exonic . . 0.036 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.377 0.199 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.233 . . 0.193 . . . 0.272 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.087 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.546 . . . . . 0.000 . 0.121 . LowAF 0.16 . . . . . . . . . . . . . 0.0921 . . 2.VII -4.13 . 0.000000 B5ME49 . . . . . 0.015 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.246 . -3.685 -3.685000 . . 0.000000 . . 1.0E-179 0.000 0.063 . 0.016 0.000 . 0.000 . 0.002 -3.685 -0.536 . . . . . 1 1538 10 1/0 0,188,255 +rs796975861 19 9012897 A C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012897 9012897 Chr19(GRCh37):g.9012897A>C 38547 38547 NM_024690.2:c.38547T>G p.Ser12849= p.Ser12849Ser 34 606154 2 3' 76.836 7.03586 0.870325 6.92892 76.836 6.36594 0.781528 5.98513 -0.0657477 rs796975861 no no 0 A 0.000000 0 transversion T G T>G 0.000 -2.861 S Ser TCT 0.185 S Ser TCG 0.056 12849 155 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.T38547G:p.S12849S MUC16:uc002mkp.3:exon34:c.T38547G:p.S12849S MUC16:NM_024690:exon34:c.T38547G:p.S12849S . . 0.104166664 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 240.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcG|S12849|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.0282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-155 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,190,255 +rs796124770 19 9012898 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9012898 9012898 Chr19(GRCh37):g.9012898G>A 38546 38546 NM_024690.2:c.38546C>T p.Ser12849Phe p.Ser12849Phe 34 606154 1 3' 76.836 7.03586 0.870325 6.92892 76.3502 6.06522 0.882872 6.60791 -0.0432875 rs796124770 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.360 S Ser TCT 0.185 F Phe TTT 0.454 12849 12 1 -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C0 353.86 0.00 Not scored 0.0 0.0 165 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.C38546T:p.S12849F MUC16:uc002mkp.3:exon34:c.C38546T:p.S12849F MUC16:NM_024690:exon34:c.C38546T:p.S12849F . . 0.10373444 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.229 . @ . . . . . 1 0.031 . . 241.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S12849F|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.4276 -1.500 -1.428 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.021 . . exonic exonic exonic . . 0.077 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.013 . . 0.459 . . . 0.112 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.079 . . 0 0 0 0 0 0 . 0.184 . . 0.121 . . . . . . 0 0.599 . . . . . 0.050 . 0.100 . LowAF 0.02 . . . . . . . . . . . . . II.62 . ENST00000397910 2.VII -1.7 . 0.000000 B5ME49 0 0.034 . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.323 -0.323000 . . 0.000000 . . 1.0E-165 0.000 0.063 . 0.016 0.002 . 0.042 . 0.018 -0.323 -0.029 . . . . . 1 1538 10 1/0 0,189,255 +rs199812452 19 9012911 T G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9012911 9012911 Chr19(GRCh37):g.9012911T>G 38546-13 38546-13 NM_024690.2:c.38546-13A>C p.? p.? 34 33 606154 -13 3' 76.836 7.03586 0.870325 6.92892 77.1265 8.33037 0.931884 VIII.02 0.0861663 Cryptic Acceptor Weakly Activated 9012898 7.03586 0.870325 76.836 8.33037 0.931884 77.1265 9012911 -70.9225 rs199812452 yes no Frequency 1 T 0.000000 0 0.000022 0.000000 0.000000 0.000121 0.000060 0.000036 0.000010 0.000048 0.000000 0.000121 5 0 0 1 1 1 1 1 0 226276 14540 31320 8244 16608 27538 102392 20646 4988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 1 1 1 1 1 0 0 0 0 0 0 0 0 0 0 RF 160 Exomes transversion A C A>C 0.000 -2.054 220 PASS . . . . . . . . . . . . . . . . 0.21182266 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 203.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.4509 . . . . . . . . 4.254e-04 . . . 0 0.0005 9.363e-05 0 0 0.0004 0 0.0019 0 0.0004 9.658e-05 0 0 0.0003 0 0.0019 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.13 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199812452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.21e-05 0 0.0001 6.021e-05 4.844e-05 9.766e-06 0 3.631e-05 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs199812452 rs199812452 1 1538 10 1/0 0,206,255 +rs76949269 19 9021075 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021075 9021075 Chr19(GRCh37):g.9021075T>C 37248 37248 NM_024690.2:c.37248A>G p.Thr12416= p.Thr12416Thr 19 606154 -22 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.24062 0 SEA domain rs76949269 yes no Frequency 1 0.000000 0 0.000115 0.000673 0.000030 0.000000 0.000057 0.000000 0.000058 0.000383 0.000000 0.000673 30 12 1 0 1 0 7 9 0 259832 17834 33870 10092 17666 30770 120200 23492 5908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 12 1 0 1 0 7 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -4.395 T Thr ACA 0.280 T Thr ACG 0.116 12416 255 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.A37248G:p.T12416T MUC16:uc002mkp.3:exon19:c.A37248G:p.T12416T MUC16:NM_024690:exon19:c.A37248G:p.T12416T . . 0.3568075 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 213.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T12416|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -1.2055 . . . . . . . . 1.013e-03 . . . 0.0050 0.0014 0 0 0 0.0018 0 0 0.0058 0.0012 0 0 0 0.0014 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.39 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76949269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0044 0.0021 0.0029 0 0.0023 0.0075 0.0008 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76949269 rs76949269 1 1538 10 1/0 0,217,255 +. 19 9021081 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021081 9021081 Chr19(GRCh37):g.9021081G>A 37242 37242 NM_024690.2:c.37242C>T p.Asn12414= p.Asn12414Asn 19 606154 -28 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 6.52172 0 SEA domain rs1032628723 no no 0 0.000000 0 0.000181 0.000000 0.000000 0.000000 0.000000 0.000000 0.000204 0.000695 0.000000 0.000695 3 0 0 0 0 0 2 1 0 16556 3334 444 272 752 0 9804 1438 512 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 97 Genomes transition C T C>T 0.354 0.286 N Asn AAC 0.536 N Asn AAT 0.464 12414 225 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.C37242T:p.N12414N MUC16:uc002mkp.3:exon19:c.C37242T:p.N12414N MUC16:NM_024690:exon19:c.C37242T:p.N12414N . . 0.22624435 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 221.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N12414|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . 0.0956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0007 0.0002 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +rs79920615 19 9021096 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021096 9021096 Chr19(GRCh37):g.9021096G>A 37227 37227 NM_024690.2:c.37227C>T p.Gly12409= p.Gly12409Gly 19 606154 -43 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 VI.85 0 Cryptic Acceptor Weakly Activated 9021090 6.09945 0.209243 78.6683 6.59609 0.303621 80.7716 SEA domain rs79920615 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000072 0.000376 0.000000 0.000000 0.000056 0.000000 0.000041 0.000252 0.000000 0.000376 19 7 0 0 1 0 5 6 0 262268 18624 33966 10116 17814 30778 121212 23764 5994 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 7 0 0 1 0 5 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.024 -0.682 G Gly GGC 0.342 G Gly GGT 0.162 12409 214 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000181143:ENST00000397910:exon19:c.C37227T:p.G12409G MUC16:uc002mkp.3:exon19:c.C37227T:p.G12409G MUC16:NM_024690:exon19:c.C37227T:p.G12409G . . 0.24122807 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G12409|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -0.2080 . . . . . . . . 7.982e-06 . . . 0 1.11e-05 0 0 0 2.374e-05 0 0 0 9.474e-06 0 0 0 1.841e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.32 0.31 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79920615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.064e-06 0 0 0 0 8.965e-06 0 0 0.0021 0.0011 0 0 0.0018 0.0041 0.0004 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs79920615 rs79920615 1 1538 10 1/0 0,205,255 +rs77455485 19 9021105 A T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021105 9021105 Chr19(GRCh37):g.9021105A>T 37218 37218 NM_024690.2:c.37218T>A p.Gly12406= p.Gly12406Gly 19 606154 -52 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.40573 0 SEA domain rs77455485 no no 0 0.000000 0 0.000488 0.001528 0.000000 0.000000 0.000000 0.000000 0.000111 0.001821 0.000000 0.001821 7 4 0 0 0 0 1 2 0 14330 2618 362 266 560 0 8970 1098 456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 4 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 112 Genomes transversion T A T>A 0.000 -2.942 G Gly GGT 0.162 G Gly GGA 0.246 12406 216 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.T37218A:p.G12406G MUC16:uc002mkp.3:exon19:c.T37218A:p.G12406G MUC16:NM_024690:exon19:c.T37218A:p.G12406G . . 0.2 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 240.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggT/ggA|G12406|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -0.6867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.34 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77455485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0005 0 0 0 0.0018 0.0001 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs77455485 rs77455485 1 1538 10 1/0 0,198,255 +rs75219945 19 9021107 C G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9021107 9021107 Chr19(GRCh37):g.9021107C>G 37216 37216 NM_024690.2:c.37216G>C p.Gly12406Arg p.Gly12406Arg 19 606154 -54 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.56426 0 SEA domain rs75219945 yes no Frequency/1000G 2 0.000000 0 0.001597 0.000000 0.008200 0.000000 0.000000 0.000000 0.000747 0.000521 0.000030 0.000000 0.000170 0.005101 0.000075 0.000302 0.001193 0.005101 193 9 1 0 3 157 9 7 7 258500 17276 33858 10112 17626 30778 119784 23198 5868 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 193 9 1 0 3 157 9 7 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -2.861 G Gly GGT 0.162 R Arg CGT 0.082 12406 12 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . 0.0016 . . . 0.0082 ENSG00000181143:ENST00000397910:exon19:c.G37216C:p.G12406R MUC16:uc002mkp.3:exon19:c.G37216C:p.G12406R MUC16:NM_024690:exon19:c.G37216C:p.G12406R . . 0.45106384 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.079 . @ . . . . . 1 0.023 . . 235.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G12406R|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -1.7993 -1.927 -1.799 c . . . . . 6.864e-04 . . . 0 0.0009 8.658e-05 0.0002 0 0 0 0.0048 0 0.0008 8.929e-05 0.0001 0 0 0.0043 0.0048 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.022 0.0016 . . . 0.33 0.29 182 ENSG00000181143 MUC16 MUC16 . . . 0.088 0.161 . 8 0.000123122 64976 0 0 59986 Uncertain_significance . 0 . . . . . . T 0.048 0.002 . . 37 . 0.156 . . 0.235 . . . 0.042 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.542 . . 0 0 0 0 0 0 . 0.090 . . 0.093 . . . . . . 0 0.272 . . . . . 0.521 . 0.147 . HET . rs75219945 . . . . . . . . . . . . XI.36 . ENST00000397910 II.87 -5.75 . 0.000000 B5ME49 . . . . . 0.010 . . . 0 0.0007 0 0 5.798e-05 0 3.584e-05 0.0011 0.0051 0.0045 0.0020 0.0034 0 0.0053 0.0078 0.0006 0.0026 . . 0.246 . -2.821 -2.821000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.002 . 0.001 -2.821 -2.201 . . . rs75219945 rs75219945 1 1538 10 1/0 0,223,255 +rs368685638 19 9021112 T G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9021112 9021112 Chr19(GRCh37):g.9021112T>G 37211 37211 NM_024690.2:c.37211A>C p.Asp12404Ala p.Asp12404Ala 19 606154 -59 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.11383 0 SEA domain 0.000301 0.000295 0.000000 0.000000 0.000000 0.000000 0.000102 0.002165 0.000000 0.002165 5 1 0 0 0 0 1 3 0 16604 3394 472 272 778 0 9780 1386 522 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 97 Genomes transversion A C A>C 0.102 0.125 D Asp GAC 0.539 A Ala GCC 0.403 12404 12 1 -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 353.86 0.00 Not scored 0.0 0.0 214 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.A37211C:p.D12404A MUC16:uc002mkp.3:exon19:c.A37211C:p.D12404A MUC16:NM_024690:exon19:c.A37211C:p.D12404A . . 0.19665273 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.076 . @ . . . . . 1 0.023 . . 239.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|D12404A|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -1.0539 -1.172 -1.054 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.566 . . exonic exonic exonic . . 0.176 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.286 0.011 . . 37 . 0.453 . . 0.504 . . . 0.681 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.823 . . 0 0 0 0 0 0 . 0.248 . . 0.277 . . . . . . 0 0.586 . . . . . 0.041 . 0.146 . HET . . . . . . . . . . . . . . II.78 . ENST00000397910 3.IX 0.781 . 0.000000 B5ME49 . . . . . 0.076 . . . . . . . . . . . . 0.0003 0.0003 0 0 0 0.0022 0.0001 0 . . 0.246 . -0.033 -0.033000 . . 0.000000 . . 1.0E-214 0.000 0.063 . 0.074 0.005 . 0.118 . 0.056 -0.033 0.054 . . . . . 1 1538 10 1/0 0,198,255 +rs79498466 19 9021118 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9021118 9021118 Chr19(GRCh37):g.9021118C>T 37205 37205 NM_024690.2:c.37205G>A p.Gly12402Glu p.Gly12402Glu 19 606154 -65 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.52481 0 Cryptic Donor Weakly Activated 9021124 1.15181 0.003508 60.7026 1.20433 0.003631 60.3925 SEA domain rs79498466 no no 0 0.000000 0 0.001470 0.003093 0.003546 0.000000 0.002762 0.000000 0.000368 0.008159 0.000000 0.008159 18 6 1 0 1 0 3 7 0 12248 1940 282 264 362 0 8162 858 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 6 1 0 1 0 3 7 0 0 0 0 0 0 0 0 0 0 RF 131 Genomes transition G A G>A 0.000 -3.023 G Gly GGG 0.250 E Glu GAG 0.583 12402 12 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.G37205A:p.G12402E MUC16:uc002mkp.3:exon19:c.G37205A:p.G12402E MUC16:NM_024690:exon19:c.G37205A:p.G12402E . . 0.45454547 . . @ 105 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.061 . @ . . . . . 1 0.014 . . 231.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G12402E|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -2.3503 -2.376 -2.350 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.293 . . exonic exonic exonic . . 0.019 @ . . . 0.33 0.28 182 ENSG00000181143 MUC16 MUC16 . . . 0.340 0.196 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.063 0.003 . . 37 . 0.049 . . 0.488 . . . 0.001 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.024 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.066 . . . . . 0.029 . 0.049 . HET . rs79498466 . . . . . . . . . . . . 1.818 . ENST00000397910 3.IX -6.18 . 0.000000 B5ME49 . . . . . 0.004 . . . . . . . . . . . . 0.0031 0.0015 0.0035 0 0.0028 0.0082 0.0004 0 . . 0.246 . -3.633 -3.633000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.001 . 0.002 -3.633 -1.635 . . . rs79498466 rs79498466 1 1538 10 1/0 0,224,255 +rs369228039 19 9021128 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021128 9021128 Chr19(GRCh37):g.9021128G>A 37195 37195 NM_024690.2:c.37195C>T p.Leu12399= p.Leu12399Leu 19 606154 57 3' 85.6507 9.20118 0.733089 4.28814 85.6507 9.20118 0.733089 4.00052 0 Cryptic Acceptor Weakly Activated 9021122 4.47883 0.023032 73.0879 4.86782 0.036002 75.1911 SEA domain rs369228039 yes no Frequency 1 0.000000 0 0.000026 0.000156 0.000000 0.000000 0.000000 0.000000 0.000025 0.000042 0.000000 0.000156 7 3 0 0 0 0 3 1 0 264606 19286 34086 10120 18170 30780 122264 23846 6054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.079 -0.037 L Leu CTG 0.404 L Leu TTG 0.127 12399 212 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.C37195T:p.L12399L MUC16:uc002mkp.3:exon19:c.C37195T:p.L12399L MUC16:NM_024690:exon19:c.C37195T:p.L12399L . . 0.1904762 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 231.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L12399|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -0.0482 . . . . . . . . 2.396e-05 . . . 0 3.33e-05 0 0 0 7.12e-05 0 0 0 2.842e-05 0 0 0 5.521e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.3 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369228039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.219e-05 0 0 0 0 2.687e-05 0 0 0.0008 0.0002 0 0 0 0.0006 0 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,199,255 +. 19 9021138 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021138 9021138 Chr19(GRCh37):g.9021138G>A 37185 37185 NM_024690.2:c.37185C>T p.Thr12395= p.Thr12395Thr 19 606154 47 3' 85.6507 9.20118 0.733089 4.28814 85.6507 9.20118 0.733089 3.85595 0 SEA domain 0.000237 0.000282 0.000000 0.000000 0.000000 0.000000 0.000000 0.001151 0.001859 0.001151 4 1 0 0 0 0 0 2 1 16890 3546 428 270 604 0 9766 1738 538 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 RF 100 Genomes transition C T C>T 0.992 0.286 T Thr ACC 0.361 T Thr ACT 0.243 12395 225 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.C37185T:p.T12395T MUC16:uc002mkp.3:exon19:c.C37185T:p.T12395T MUC16:NM_024690:exon19:c.C37185T:p.T12395T . . 0.22624435 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 221.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T12395|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . 0.5833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0 0 0 0.0012 0 0.0019 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +rs200978134 19 9021159 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021159 9021159 Chr19(GRCh37):g.9021159T>C 37164 37164 NM_024690.2:c.37164A>G p.Val12388= p.Val12388Val 19 606154 26 3' 85.6507 9.20118 0.733089 4.28814 85.6507 9.20118 0.733089 4.54152 0 SEA domain rs200978134 yes no Frequency 1 0.000000 0 0.000023 0.000230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000230 6 4 0 0 0 0 0 2 0 258718 17358 33880 10102 17662 30780 119766 23296 5874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 4 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.360 V Val GTA 0.114 V Val GTG 0.468 12388 255 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.A37164G:p.V12388V MUC16:uc002mkp.3:exon19:c.A37164G:p.V12388V MUC16:NM_024690:exon19:c.A37164G:p.V12388V . . 0.42639595 . . @ 84 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 197.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V12388|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -0.1860 . . . . . . . . 2.718e-04 . . . 0.0011 0.0003 0 0 0 0.0003 0.0014 0 0.0013 0.0002 0 0 0 0.0002 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.38 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200978134 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0018 0.0005 0 0 0 0.0020 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs200978134 rs200978134 1 1538 10 1/0 0,230,255 +. 19 10080619 A G - COL5A3 14864 Collagen, type V, alpha 3 NM_015719.3 -1 6174 5238 NP_056534.2 P25940 substitution intron GRCh37 10080619 10080619 Chr19(GRCh37):g.10080619A>G 3937-21 3937-21 NM_015719.3:c.3937-21T>C p.? p.? 55 54 120216 -21 3' 80.7249 9.11923 0.811585 X.13 80.7249 9.11923 0.828126 9.99617 0.0067937 10080617 -24.7594 transition T C T>C 0.000 -1.651 201 PASS . . . . . . . . . . . . . . . . 0.16363636 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||COL5A3|mRNA|CODING|NM_015719|) . . . . . . . -0.4955 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000080573 COL5A3 COL5A3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs541076698 19 10114582 C T - COL5A3 14864 Collagen, type V, alpha 3 NM_015719.3 -1 6174 5238 NP_056534.2 P25940 substitution intron GRCh37 10114582 10114582 Chr19(GRCh37):g.10114582C>T 699+135 699+135 NM_015719.3:c.699+135G>A p.? p.? 5 5 120216 135 5' 84.0719 8.94615 0.987867 9.10232 84.0719 8.94615 0.987867 9.10232 0 rs541076698 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000867 0.002003 0.000000 0.002003 20 0 0 0 0 0 13 7 0 30936 8712 838 302 1622 0 14990 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 0 0 0 13 7 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -0.117 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.46153846 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . INTRON(MODIFIER||||COL5A3|mRNA|CODING|NM_015719|) . . . . . . . 0.1326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000080573 COL5A3 COL5A3 . . . . . . 21 0.000323196 64976 20 0.000333411 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs541076698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0.0020 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs61758431 19 10273370 A C - DNMT1 2976 DNA methyltransferase 1 NM_001130823.2 -1 5458 4899 NP_001124295.1 substitution missense exon GRCh37 10273370 10273370 Chr19(GRCh37):g.10273370A>C 981 981 NM_001130823.2:c.981T>G p.Ile327Met p.Ile327Met 13 126375 -28 5' 82.523 9.06409 0.876728 7.13321 82.523 9.06409 0.876728 7.60217 0 DNA (cytosine-5)-methyltransferase 1, eukaryote rs61758431 yes no Frequency/1000G 2 A likely_benign 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000509 0.000000 0.000000 0.002858 0.000000 0.000000 0.000640 0.001094 0.000465 0.002858 141 0 0 29 0 0 81 28 3 276792 23968 34408 10148 18868 30782 126576 25592 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 141 0 0 29 0 0 81 28 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 133 RCV000287080.1 germline clinical testing Likely benign 1 Dementia, Deafness, and Sensory Neuropathy COSM4991201 Skin 0.000791 1264 transversion T G T>G 0.000 -0.763 I Ile ATT 0.356 M Met ATG 1.000 327 12 4 Olive baboon 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Tolerated 0.09 IV.32 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.49295774 . . germline 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . Likely//\@benign Likely_benign RCV000287080.1 . MedGen CN239189 1 0.049 . . 71.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . -1.4360 -1.493 -1.436 c . . . . . 4.893e-04 . . . 0 0.0004 0 0 0.0018 0.0007 0 0 0 0.0005 0 0 0.0015 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.801 . . exonic exonic exonic . . 0.049 0.0002 . . . 0.35 0.38 182 ENSG00000130816 DNMT1 DNMT1 . . . 0.000 0.063 . 19 0.000292416 64976 18 0.00030007 59986 Uncertain_significance . 0 . 0.015 . . . . D 0.740 0.082 . . 37 . 0.611 . . 0.445 . . . 0.033 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.170 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 0.327 . . . . . 0.016 . 0.030 . HET 0.12 rs61758431 . . . . . . . . . . . . 1.1073 0.0 . IV.22 -3.11 . 0.110000 . . . Name\x3dnsv833743 0.000308 . 0.065 . . . 0 0.0005 0 0.0027 0 0.0010 0.0006 0.0005 0 0 0.0008 0 0.0067 0 0.0018 0.0010 0 . . 0.730 . -0.793 -0.793000 . . 0.110000 . . 1.0E-255 0.000 0.063 . 0.074 0.020 . 0.021 . 0.222 -0.793 0.722 0.0005 rs61758431 rs61758431 rs61758431 rs61758431 1 1538 10 1/0 0,255,255 +rs559135150 19 10403992 G A - ICAM5 5348 Intercellular adhesion molecule 5, telencephalin NM_003259.3 1 3002 2775 NP_003250.3 Q9UMF0 substitution intron GRCh37 10403992 10403992 Chr19(GRCh37):g.10403992G>A 1465+70 1465+70 NM_003259.3:c.1465+70G>A p.? p.? 6 6 601852 70 5' 73.7552 6.95697 0.555979 9.71062 73.7552 6.95697 0.555979 9.59829 0 Cryptic Donor Strongly Activated 10403993 0.811283 0.041251 63.187 III.07 0.100319 72.1478 rs559135150 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.004100 0.000000 0.002000 0.000000 0.001002 0.000115 0.000000 0.006623 0.000000 0.000000 0.001400 0.001721 0.001020 0.006623 31 1 0 2 0 0 21 6 1 30948 8726 836 302 1622 0 14996 3486 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 1 0 2 0 0 21 6 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -0.198 255 PASS . . . . . . 0.0012 . . 0.002 0.0041 . . . . . 0.3627451 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 102.0 . . . . . . . . . . 0.8863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0012 . . . . . . ENSG00000105376 ICAM5 ICAM5 . . . . . . 38 0.000584831 64976 32 0.000533458 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs559135150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0010 0 0.0066 0 0.0017 0.0014 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +rs201217111 19 10445100 G A - ICAM3 5346 Intercellular adhesion molecule 3 NM_002162.4 -1 1945 1644 NP_002153.2 P32942 substitution intron GRCh37 10445100 10445100 Chr19(GRCh37):g.10445100G>A 1193-16 1193-16 NM_002162.4:c.1193-16C>T p.? p.? 6 5 146631 -16 3' 77.6044 7.71069 0.118882 6.46462 77.6044 7.95853 0.194138 6.35616 0.221724 Cryptic Acceptor Weakly Activated 10445084 7.71069 0.118882 77.6044 7.95853 0.194138 77.6044 10445099 -6.59893 rs201217111 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000434 0.000042 0.000000 0.000000 0.000000 0.000000 0.000713 0.001087 0.000155 0.001087 120 1 0 0 0 0 90 28 1 276556 24016 34414 10108 18864 30760 126182 25754 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 0 0 0 0 90 28 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 80 transition C T C>T 0.008 -0.117 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.44134077 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . I.17 . . . . . . . . 4.815e-04 . . . 9.675e-05 0.0003 0 0 0.0018 0.0005 0 0 0 0.0004 0 0 0.0015 0.0006 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.33 0.36 182 ENSG00000076662 ICAM3 ICAM3 . . . . . . 20 0.000307806 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201217111 . . . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 6.535e-05 0.0004 0 0 0 0.0010 0.0007 0.0002 0 0 0.0007 0 0 0 0.0017 0.0010 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs201217111 rs201217111 1 1538 10 1/0 0,230,254 +rs201217111 19 10445100 G A - RAVER1 30296 Ribonucleoprotein, PTB-binding 1 NM_133452.2 -1 3593 2271 NP_597709.2 substitution upstream GRCh37 10445100 10445100 Chr19(GRCh37):g.10445100G>A -866 -866 NM_133452.2:c.-866C>T p.? p.? 1 609950 -1136 5' 72.4148 8.34752 0.791527 9.83271 72.4148 8.34752 0.791527 9.83271 0 Cryptic Acceptor Weakly Activated 10445084 7.71069 0.118882 77.6044 7.95853 0.194138 77.6044 rs201217111 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000434 0.000042 0.000000 0.000000 0.000000 0.000000 0.000713 0.001087 0.000155 0.001087 120 1 0 0 0 0 90 28 1 276556 24016 34414 10108 18864 30760 126182 25754 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 0 0 0 0 90 28 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 80 transition C T C>T 0.008 -0.117 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.44134077 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . I.17 . . . . . . . . 4.815e-04 . . . 9.675e-05 0.0003 0 0 0.0018 0.0005 0 0 0 0.0004 0 0 0.0015 0.0006 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.33 0.36 182 ENSG00000076662 ICAM3 ICAM3 . . . . . . 20 0.000307806 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201217111 . . . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 6.535e-05 0.0004 0 0 0 0.0010 0.0007 0.0002 0 0 0.0007 0 0 0 0.0017 0.0010 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs201217111 rs201217111 1 1538 10 1/0 0,230,254 +rs55762744 19 10488926 C T - TYK2 12440 Tyrosine kinase 2 NM_003331.4 -1 4248 3564 NP_003322.3 P29597 substitution missense exon GRCh37 10488926 10488926 Chr19(GRCh37):g.10488926C>T 157 157 NM_003331.4:c.157G>A p.Ala53Thr p.Ala53Thr 3 176941 -37 5' 82.9985 9.27414 0.987397 9.59088 82.9985 9.27414 0.987397 9.24002 0 FERM domain Tyrosine-protein kinase, non-receptor Jak/Tyk2 Band 4.1 domain rs55762744 yes no Frequency/1000G 2 likely_benign 0.000000 0 0.003794 0.000000 0.005100 0.000000 0.009900 0.005800 0.007351 0.001963 0.003661 0.005533 0.000053 0.008285 0.010978 0.004460 0.007446 0.010978 2032 47 126 56 1 255 1384 115 48 276410 23944 34414 10122 18846 30778 126074 25786 6446 0.000080 0.000000 0.000000 0.000000 0.000000 0.000130 0.000127 0.000000 0.000310 11 0 0 0 0 2 8 0 1 2010 47 126 56 1 251 1368 115 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8503 4394 12897 97 12 109 0.0112791 0.00272356 0.00838075 0.0112791 0.00272356 0.00838075 77 RCV000441975.1 germline clinical testing Likely benign 1 not specified CM1210260 Multiple sclerosis, susceptibility to 22744673 DP transition G A G>A 0.693 2.869 A Ala GCT 0.263 T Thr ACT 0.243 53 10 8 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Deleterious 0 III.76 bad 1.194E-5 2.111E-5 255 PASS . 0.0037 0.01 . 0.01 . 0.0038 0.0058 . 0.0099 0.0051 . . TYK2:NM_003331:exon3:c.G157A:p.A53T . . 0.4047619 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.672 . @ . . . . . 1 0.902 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A53T|TYK2|mRNA|CODING|NM_003331|NM_003331.ex.3) 0.0027 0.0084 0.011 0.0027 0.0084 0.011 . 0.3444 0.208 0.344 c . . . . . 7.892e-03 . . . 0.0022 0.0072 0.0038 0.0004 0.0039 0.0100 0.0101 0.0085 0.0022 0.0079 0.0038 0.0003 0.0050 0.0109 0.0116 0.0085 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.748 . . exonic exonic exonic . . 0.577 0.0038 . . . 0.32 0.18 182 ENSG00000105397 TYK2 TYK2 . . . 0.999 0.398 . 484 0.0074489 64976 465 0.00775181 59986 Uncertain_significance . 0 . 0.477 . . . . . . . . . 37 . 0.784 . . 0.825 . . . 0.836 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.678 . . 0 0 0 0 1 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.606 . 0.471 . HET 0 rs55762744 . . . . . . . 0.003663003663003663 0.0 0.0055248618784530384 0.0 0.0079155672823219 13.4798 0.00214 . IV.66 IV.66 . 0.030000 . . . . 0.008381 . 0.570 . . IV.66 0.0018 0.0074 0.0037 0.0056 5.805e-05 0.0043 0.0110 0.0080 0.0083 0.0023 0.0067 0.0036 0.0033 0 0.0054 0.0108 0.0041 . . 0.609 . 2.309 2.309000 . . 0.030000 . . 1.0E-255 0.994 0.380 . 0.165 0.905 . 0.599 . 0.419 2.309 0.868 0.011 rs55762744 rs55762744 rs55762744 rs55762744 1 1538 10 1/0 0,255,255 +rs150028004 19 10505961 C T - CDC37 1735 Cell division cycle 37 homolog (S. cerevisiae) NM_007065.3 -1 1671 1137 NP_008996.1 Q16543 substitution synonymous exon GRCh37 10505961 10505961 Chr19(GRCh37):g.10505961C>T 546 546 NM_007065.3:c.546G>A p.Val182= p.Val182Val 4 605065 -58 5' 92.583 10.0326 0.987705 8.67264 92.583 10.0326 0.987705 7.93662 0 Cryptic Donor Strongly Activated 10505964 III.71 0.048357 71.1743 6.72735 0.750352 75.5367 Cdc37, Hsp90 binding rs150028004 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000431 0.000042 0.000029 0.000000 0.000000 0.000000 0.000700 0.001086 0.000155 0.001086 119 1 1 0 0 0 88 28 1 276022 23972 34384 10112 18862 30772 125676 25792 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 1 1 0 0 0 88 28 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 219 transition G A G>A 1.000 0.448 V Val GTG 0.468 V Val GTA 0.114 182 255 PASS . . . . . . 0.0002 . . 0.001 . . CDC37:uc002mof.1:exon4:c.G546A:p.V182V CDC37:NM_007065:exon4:c.G546A:p.V182V . . 0.4813084 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 214.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V182|CDC37|mRNA|CODING|NM_007065|NM_007065.ex.4) . 0.0004 0.0006 . 0.0004 0.0006 . I.20 . . . . . . . . 4.893e-04 . . . 9.731e-05 0.0003 0 0 0.0018 0.0005 0 0 0 0.0004 0 0 0.0015 0.0006 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.53 0.25 182 ENSG00000105401 CDC37 CDC37 . . . . . . 15 0.000230854 64976 14 0.000233388 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150028004 . . . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 6.561e-05 0.0004 2.981e-05 0 0 0.0010 0.0007 0.0002 0 0 0.0006 0 0 0 0.0017 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs150028004 rs150028004 1 1538 10 1/0 0,224,241 +rs138606386 19 10657871 C T - ATG4D 20789 Autophagy related 4D, cysteine peptidase NM_032885.5 1 1978 1425 NP_116274.3 Q86TL0 substitution synonymous exon GRCh37 10657871 10657871 Chr19(GRCh37):g.10657871C>T 777 777 NM_032885.5:c.777C>T p.Ala259= p.Ala259Ala 5 611340 7 3' 82.2851 XII.86 0.948365 8.56039 82.2851 XII.86 0.944352 8.244 -0.0014105 Peptidase C54 rs138606386 yes no Frequency/1000G 2 C 0.000000 0 0.002995 0.000800 0.003100 0.000000 0.009900 0.001400 0.006426 0.001751 0.003721 0.017762 0.000000 0.004323 0.009574 0.001402 0.007604 0.017762 1777 42 128 180 0 133 1209 36 49 276534 23986 34400 10134 18846 30766 126286 25672 6444 0.000065 0.000083 0.000000 0.000197 0.000000 0.000065 0.000079 0.000000 0.000310 9 1 0 1 0 1 5 0 1 1759 40 128 178 0 131 1199 36 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8506 4399 12905 94 7 101 0.0109302 0.00158874 0.00776565 0.0109302 0.00158874 0.00776565 47 transition C T C>T 0.008 -3.346 A Ala GCC 0.403 A Ala GCT 0.263 259 255 PASS . 0.0032 . . 0.01 0.0008 0.003 0.0014 . 0.0099 0.0031 . . . . . 0.4903226 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 155.0 . . . 0.0016 0.0078 0.011 0.0016 0.0078 0.011 . 0.0480 . . . . . . . . 6.811e-03 . . . 0.0022 0.0070 0.0049 0.0002 0.0019 0.0111 0.0119 0.0046 0.0019 0.0068 0.0048 0.0003 0.0022 0.0101 0.0075 0.0047 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0030 . . . 0.41 0.24 182 ENSG00000130734 ATG4D ATG4D . . . . . . 442 0.00680251 64976 428 0.007135 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138606386 . . . . . . . . . . . . . . . . . . . . . . . 0.007766 . . . . . 0.0020 0.0065 0.0037 0.0179 0 0.0014 0.0096 0.0086 0.0043 0.0014 0.0055 0.0048 0.0132 0 0.0017 0.0094 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138606386 rs138606386 1 1538 10 1/0 0,242,255 +rs140144406 19 10665175 T G - ATG4D 20789 Autophagy related 4D, cysteine peptidase NM_032885.5 1 1978 1425 NP_116274.3 Q86TL0 substitution downstream GRCh37 10665175 10665175 Chr19(GRCh37):g.10665175T>G *1432 *1432 NM_032885.5:c.*1432T>G p.? p.? 10 611340 1615 3' 85.9919 XII.12 0.976967 XI.31 85.9919 XII.12 0.976967 XI.31 0 rs140144406 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000711 0.000000 0.002387 0.000000 0.000000 0.000000 0.000933 0.001719 0.000000 0.002387 22 0 2 0 0 0 14 6 0 30964 8728 838 302 1618 0 15006 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 2 0 0 0 14 6 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T G T>G 0.000 -0.037 255 PASS . 0.0005 . . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.47368422 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . 0.5443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.35 0.29 182 ENSG00000129347 KRI1 KRI1 . . . . . . 15 0.000230854 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs140144406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0.0024 0 0 0.0017 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs140144406 rs140144406 1 1538 10 1/0 0,255,255 +rs140144406 19 10665175 T G - KRI1 25769 KRI1 homolog NM_023008.3 -1 3005 2130 NP_075384.3 substitution intron GRCh37 10665175 10665175 Chr19(GRCh37):g.10665175T>G 1800-218 1800-218 NM_023008.3:c.1800-218A>C p.? p.? 19 18 -218 3' 92.0126 11.306 0.933909 VIII.58 92.0126 11.306 0.933909 VIII.58 0 rs140144406 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000711 0.000000 0.002387 0.000000 0.000000 0.000000 0.000933 0.001719 0.000000 0.002387 22 0 2 0 0 0 14 6 0 30964 8728 838 302 1618 0 15006 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 2 0 0 0 14 6 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion A C A>C 0.000 -0.037 255 PASS . 0.0005 . . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.47368422 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . 0.5443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.35 0.29 182 ENSG00000129347 KRI1 KRI1 . . . . . . 15 0.000230854 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs140144406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0.0024 0 0 0.0017 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs140144406 rs140144406 1 1538 10 1/0 0,255,255 +rs147509697 19 11200282 G A - LDLR 6547 Low density lipoprotein receptor NM_000527.4 1 5284 2583 NP_000518.1 P01130 substitution missense exon GRCh37 11200282 11200282 Chr19(GRCh37):g.11200282G>A 58 58 NM_000527.4:c.58G>A p.Gly20Arg p.Gly20Arg 1 606945 -10 5' 94.9812 11.083 0.998308 12.1563 94.9812 11.083 0.998308 XII.73 0 New Acceptor Site 11200284 0.044266 6.4e-05 61.9694 rs147509697 yes no Frequency/1000G 2 G uncertain_significance,not_provided 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000743 0.000086 0.000292 0.002402 0.000000 0.000033 0.001066 0.001087 0.000945 0.002402 202 2 10 24 0 1 132 27 6 271788 23266 34244 9992 18760 30558 123784 24834 6350 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 202 2 10 24 0 1 132 27 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4402 12989 9 0 9 0.001047 0 0.000692414 0.001047 0 0.000692414 18 RCV000211611.6|RCV000161949.1|RCV000148577.1 germline|germline|germline|germline|inherited|germline|germline|germline|not applicable|germline research|clinical testing|literature only|research|clinical testing|clinical testing|research|research|in vitro|research Conflicting interpretations of pathogenicity|Not provided|VUS 1|0|1 Familial hypercholesterolemia|not provided|Hypercholesterolaemia CM022807 Hypercholesterolaemia 12436241 DM? transition G A G>A 0.000 0.125 G Gly GGG 0.250 R Arg AGG 0.207 20 11 6 Horse -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.23 III.75 good 2.958E-2 0.5468 255 PASS . . . . . . 0.0006 0.0014 . 0.002 . . . . . . 0.46875 . . germline 15 . . 1.2.2016 0 1 0 0 1 0 0 0 0 1 0 0 . . . . . . 0.190 . Uncertain//\@significance//\%//\@not//\@provided//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity Uncertain_significance|not_provided|other RCV000148577.1|RCV000161949.1|RCV000211611.4 Hypercholesterolaemia|not_provided|Familial_hypercholesterolemia MedGen|MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT C0020443|CN221809|C0020445:143890:397915002:398036000 1 0.308 . . 32.0 . . . . 0.0007 0.001 . 0.0007 0.001 . -0.9070 -0.969 -0.907 c . . . . . 8.851e-04 . . . 0.0001 0.0009 0.0003 0 0.0020 0.0017 0 6.76e-05 0 0.0010 0.0003 0 0.0020 0.0016 0 6.794e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.900 . . exonic exonic exonic . . 0.150 0.0006 . . . 0.44 0.23 182 ENSG00000130164 LDLR LDLR . . . 1.000 0.747 . 22 0.000338587 64976 19 0.000316741 59986 Likely_benign . 0 . 0.016 . . . . D 0.861 0.189 . . 37 . 0.843 . . 0.732 . . . 0.446 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.397 . . 0 0 0 0 1 0 . 0.315 . . 0.290 . . . . . . 0 0.721 . . . . . 0.063 . 0.671 . HET 0.01 rs147509697 . . . . CLINSIG\x3dunknown|untested\x3bCLNDBN\x3dHypercholesterolaemia|not_provided\x3bCLNREVSTAT\x3dsingle|not\x3bCLNACC\x3dRCV000148577.1|RCV000161949.1\x3bCLNDSDB\x3dMedGen|MedGen\x3bCLNDSDBID\x3dC0020443|CN221809 CLINSIG\x3dunknown|untested\x3bCLNDBN\x3dHypercholesterolaemia|not_provided\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|no_assertion_provided\x3bCLNACC\x3dRCV000148577.1|RCV000161949.1\x3bCLNDSDB\x3dMedGen|MedGen\x3bCLNDSDBID\x3dC0020443|CN221809 . . . . . . III.25 0.0 . III.67 0.318 . 0.160000 . . . . 0.000692 . 0.698 . . . 0 0.0008 0.0002 0.0024 0 0.0010 0.0011 0.0009 3.272e-05 0.0002 0.0007 0.0024 0.0033 0 0.0017 0.0006 0.0010 . . 0.072 . 0.177 0.177000 . . 0.160000 . . 1.0E-255 0.320 0.253 . 0.192 0.012 . 0.297 . 0.713 0.177 0.630 0.001 . . rs147509697 rs147509697 1 1538 10 1/0 0,255,255 +. 19 11314807 CTGGGGATGAGG C - DOCK6 19189 Dedicator of cytokinesis 6 NM_020812.3 -1 6400 6144 NP_065863.2 Q96HP0 deletion intron GRCh37 11314808 11314818 Chr19(GRCh37):g.11314808_11314818del 5221-47 5221-37 NM_020812.3:c.5221-47_5221-37del p.? p.? 41 40 614194 -37 3' 85.1444 12.0188 0.988762 16.5631 85.1444 12.0188 0.988762 17.3172 0 11314814 -92.8342 CCTCATCCCCA 255 Pass . . . . . . . . . . . . . . . . 0.3529412 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . INTRON(MODIFIER||||DOCK6|mRNA|CODING|NM_020812|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000267082 DOCK6 DOCK6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,45 +. 19 11517108 A ATCCACTTCTCCAGCCGCTGCGCC - RGL3 30282 Ral guanine nucleotide dissociation stimulator-like 3 NM_001161616.2 -1 2561 2151 NP_001155088.2 duplication frameshift exon GRCh37 11517108 11517109 Chr19(GRCh37):g.11517109_11517131dup 960 982 NM_001161616.2:c.960_982dup p.Ile328Argfs*46 p.Ile328Argfs*46 7 616743 -14 5' 85.464 6.99123 0.704335 13.0722 85.464 6.99123 0.704335 XII.64 0 Guanine-nucleotide dissociation stimulator CDC25 rs766587280 yes no Frequency 1 0.000000 0 0.000156 0.000066 0.000000 0.000000 0.000000 0.000000 0.000271 0.000552 0.000220 0.000552 25 1 0 0 0 0 17 6 1 160644 15088 24608 8192 11918 22598 62830 10864 4546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 1 0 0 0 0 17 6 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes GGCGCAGCGGCTGGAGAAGTGGA 255 Pass . . . . . . . . . . . . . . . . 0.28947368 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 38 . . . . . . . . . . . . . . . . . . . 7.446e-05 . . . 0 9.084e-05 0 0 0 0.0003 0 0 0 0 0 0 0 0 0 0 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000205517 RGL3 RGL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs766587280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0003 0.0003 0 0 0.0001 0.0003 0 0 0 0.0011 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,54 +rs146331903 19 13260240 A G - IER2 28871 Immediate early response 2 NM_004907.2 1 2050 672 NP_004898.2 Q9BTL4 substitution upstream GRCh37 13260240 13260240 Chr19(GRCh37):g.13260240A>G -1370 -1370 NM_004907.2:c.-1370A>G p.? p.? 1 -1127 5' 74.9268 II.66 0.811523 0 74.9268 II.66 0.811523 0 0 rs146331903 no no 0 A 0.000000 0 transition A G A>G 0.000 -2.458 247 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.8234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.4 182 ENSG00000104915 STX10 STX10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146331903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . rs73006879 rs146331903 rs146331903 1 1538 10 1/0 0,255,255 +rs146331903 19 13260240 A G - STX10 11428 Syntaxin 10 NM_003765.2 -1 1303 750 NP_003756.1 O60499 substitution intron GRCh37 13260240 13260240 Chr19(GRCh37):g.13260240A>G 300+73 300+73 NM_003765.2:c.300+73T>C p.? p.? 3 3 603765 73 5' 85.0987 7.19963 0.889289 7.32081 85.0987 7.19963 0.889289 VII.14 0 rs146331903 no no 0 A 0.000000 0 transition T C T>C 0.000 -2.458 247 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.8234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.4 182 ENSG00000104915 STX10 STX10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146331903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . rs73006879 rs146331903 rs146331903 1 1538 10 1/0 0,255,255 +. 19 13317491 TA T - CACNA1A 1388 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit NM_023035.2 -1 8646 7539 NP_075461.2 deletion 3'UTR GRCh37 13317491 13317491 Chr19(GRCh37):g.13317491del *636 *636 NM_023035.2:c.*636del p.? p.? 48 601011 1377 3' 82.1784 7.74275 0.869404 7.84032 82.1784 7.74275 0.869404 7.84032 0 A 255 Pass . . . . . . . . . . . . . . . . 0.5555556 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000141837 CACNA1A CACNA1A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,26 +. 19 13323641 T TCC - CACNA1A 1388 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit NM_023035.2 -1 8646 7539 NP_075461.2 insertion intron GRCh37 13323641 13323642 Chr19(GRCh37):g.13323641_13323642insCC 5959-88 5959-87 NM_023035.2:c.5959-88_5959-87insGG p.? p.? 42 41 601011 -87 3' 79.7083 11.1543 0.925213 XI.93 79.7083 11.1543 0.925213 XI.93 0 GG 255 Pass . . . . . . . . . . . . . . . . 0.5925926 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000141837 CACNA1A CACNA1A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +. 19 14037233 C T - CC2D1A 30237 Coiled-coil and C2 domain containing 1A NM_017721.4 1 3640 2856 NP_060191.3 Q6P1N0 substitution intron GRCh37 14037233 14037233 Chr19(GRCh37):g.14037233C>T 1941-97 1941-97 NM_017721.4:c.1941-97C>T p.? p.? 18 17 610055 -97 3' 66.4742 1.88176 0.007431 0 66.4742 1.88176 0.007431 0 0 rs994045572 no no 0 C 0.000000 0 0.000129 0.000115 0.000000 0.000000 0.000000 0.000000 0.000200 0.000000 0.000000 0.000200 4 1 0 0 0 0 3 0 0 30918 8720 838 302 1616 0 14982 3482 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition C T C>T 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.575 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.0348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132024 CC2D1A CC2D1A . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs374628776 19 14067078 A T - DCAF15 25095 DDB1 and CUL4 associated factor 15 NM_138353.3 1 2296 1803 NP_612362.2 Q66K64 substitution splice site GRCh37 14067078 14067078 Chr19(GRCh37):g.14067078A>T 613+4 613+4 NM_138353.3:c.613+4A>T p.? p.? 5 5 4 5' 90.6189 10.0684 0.972157 15.6925 80.4452 6.34467 0.824781 8.92983 -0.211236 rs374628776 yes no Frequency 1 A 0.000000 0 0.000128 0.000042 0.000000 0.000000 0.000000 0.000033 0.000257 0.000039 0.000000 0.000257 35 1 0 0 0 1 32 1 0 273778 23758 34344 9998 18772 30704 124316 25490 6396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 1 0 0 0 1 32 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4402 12999 1 0 1 0.000116306 0 7.69231e-05 0.000116306 0 7.69231e-05 30 transversion A T A>T 0.992 2.062 255 PASS . . . . . . . . . . . . . . . . 0.42783505 . . @ 166 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 388.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 1.0538 . . . . . . . . 1.345e-04 . . . 0 5.79e-05 0 0 0 0.0001 0 0 0 0.0002 0 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.24 182 ENSG00000132017 DCAF15 DCAF15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374628776 . . . . . . . . . . . . . . . . . . . . 0.8291 0.47 . 0.000077 . . . . III.34 0 0.0001 0 0 0 4.545e-05 0.0003 0 3.257e-05 0.0001 9.73e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs374628776 rs374628776 1 1538 10 1/0 0,197,227 +rs10406537 19 14091543 T C - RFX1 9982 Regulatory factor X, 1 (influences HLA class II expression) NM_002918.4 -1 4377 2940 NP_002909.4 P22670 substitution intron GRCh37 14091543 14091543 Chr19(GRCh37):g.14091543T>C 622-42 622-42 NM_002918.4:c.622-42A>G p.? p.? 6 5 600006 -42 3' 86.6739 XI.19 0.953286 XI.86 86.6739 XI.19 0.953286 11.908 0 rs10406537 yes no Frequency/1000G 2 T 0.000000 0 0.374800 0.410000 0.390600 0.390900 0.332000 0.324200 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000135 2 0 0 0 0 0 2 0 0 30696 8644 838 300 1604 0 14864 3478 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition A G A>G 0.000 -2.054 181 PASS . . . . . 0.41 0.37 0.32 0.39 0.33 0.39 . . . . . 0.11486486 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||RFX1|mRNA|CODING|NM_002918|) . . . . . . . 0.0860 . . . . . . . . 4.120e-04 . . . 0.0003 0.0006 0 0 0.0020 0.0007 0 0.0006 0.0003 0.0005 0 0 0.0015 0.0006 0 0.0006 . . . . . . intronic intronic intronic . . . 0.3748 . . . 0.39 0.16 182 ENSG00000132005 RFX1 RFX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs10406537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.516e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs10406537 rs10406537 rs10406537 rs10406537 1 1538 10 1/0 0,211,255 +rs72997461 19 14091556 A G - RFX1 9982 Regulatory factor X, 1 (influences HLA class II expression) NM_002918.4 -1 4377 2940 NP_002909.4 P22670 substitution intron GRCh37 14091556 14091556 Chr19(GRCh37):g.14091556A>G 622-55 622-55 NM_002918.4:c.622-55T>C p.? p.? 6 5 600006 -55 3' 86.6739 XI.19 0.953286 XI.86 86.6739 XI.19 0.953286 XI.42 0 14091554 -24.7594 rs72997461 yes no Frequency/1000G 2 G 0.000000 0 transition T C T>C 0.016 1.174 209 PASS . . . . . . . . . . . . . . . . 0.18382353 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . INTRON(MODIFIER||||RFX1|mRNA|CODING|NM_002918|) . . . . . . . 0.6708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.25 182 ENSG00000132005 RFX1 RFX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72997461 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . II.79 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . 0.033 . rs72997461 rs72997461 rs72997461 1 1538 10 1/0 0,220,255 +. 19 14593828 AG A - GIPC1 1226 GIPC PDZ domain containing family, member 1 NM_005716.3 -1 1946 1002 NP_005707.1 O14908 deletion intron GRCh37 14593829 14593829 Chr19(GRCh37):g.14593829del -41 -41 NM_005716.3:c.-30-11del p.? p.? 4 3 605072 -11 3' 87.3464 X.23 0.935624 XII.86 87.8882 11.III 0.946813 XII.17 0.0214735 rs140063653 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.007000 0.001400 0.003018 0.000321 0.001748 0.000113 0.000054 0.000000 0.004478 0.008346 0.004440 0.008346 736 7 57 1 1 0 489 155 26 243898 21836 32606 8874 18360 28602 109192 18572 5856 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 4 0 0 0 0 0 4 0 0 728 7 57 1 1 0 481 155 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6556 3254 9810 26 0 26 0.00395017 0 0.00264335 0.00395017 0 0.00264335 11 C 255 Pass . . . . . . 0.0016 0.0014 . 0.007 . . . . . . 0.45454547 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 66 . . . . 0.0027 0.004 . 0.0026 0.004 . . . . . . . . . . 2.780e-03 . . . 0.0001 0.0025 0.0016 0 0.0101 0.0039 0.0052 0 0.0002 0.0031 0.0015 0 0.0088 0.0045 0.0034 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000123159 GIPC1 GIPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140063653 . . . . . . . . . . . . . . . . . . . . . . . 0.002650 . . . . . 0.0003 0.0029 0.0017 0.0001 5.974e-05 0.0083 0.0043 0.0035 0 0.0003 0.0041 0.0024 0 0 0.0086 0.0055 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs140063653 rs140063653 1 1538 10 1.I 0,12,34 +rs45472901 19 14884959 C T - ADGRE2 3337 Adhesion G protein-coupled receptor E2 NM_013447.3 -1 6467 2472 NP_038475.2 Q9UHX3 substitution intron GRCh37 14884959 14884959 Chr19(GRCh37):g.14884959C>T 83-93 83-93 NM_013447.3:c.83-93G>A p.? p.? 4 3 606100 -93 3' 88.1591 XI.93 0.960243 14.1616 88.1591 XI.93 0.960243 14.1616 0 rs45472901 yes no Frequency/1000G 2 C 0.000000 0 0.011781 0.028000 0.010200 0.005000 0.005000 0.002900 0.007508 0.013242 0.002415 0.010490 0.001264 0.000000 0.004663 0.009390 0.007338 0.013242 226 112 2 3 2 0 68 32 7 30100 8458 828 286 1582 0 14584 3408 954 0.004425 0.008929 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 224 110 2 3 2 0 68 32 7 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition G A G>A 0.000 -0.360 216 PASS . . . . . 0.028 0.012 0.0029 0.005 0.005 0.01 . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.2032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0118 . . . 0.17 0.12 182 ENSG00000127507 EMR2 ADGRE2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45472901 0.065 0.043 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv509722 . . . . . . . . . . . . . . . 0.0132 0.0075 0.0024 0.0105 0.0013 0.0094 0.0047 0.0073 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.065 rs45472901 rs45472901 rs45472901 rs112453146 1 1538 10 1/0 0,255,255 +rs201424847 19 15839047 T C - OR10H2 8173 Olfactory receptor, family 10, subfamily H, member 2 NM_013939.2 1 1029 948 NP_039227.1 O60403 substitution missense exon GRCh37 15839047 15839047 Chr19(GRCh37):g.15839047T>C 194 194 NM_013939.2:c.194T>C p.Val65Ala p.Val65Ala 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs201424847 yes no Frequency 1 C 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000053 0.000000 0.000008 0.000000 0.000000 0.000053 2 0 0 0 1 0 1 0 0 276920 24000 34418 10150 18870 30780 126462 25786 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.882 0.125 V Val GTC 0.240 A Ala GCC 0.403 65 5 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 85.32 0.00 Tolerated 0.94 IV.32 good 3.672E-1 0.03597 231 PASS . . . . . . . . . . . ENSG00000171942:ENST00000305899:exon1:c.T194C:p.V65A OR10H2:uc002nbm.2:exon1:c.T194C:p.V65A OR10H2:NM_013939:exon1:c.T194C:p.V65A . . 0.24379233 . . @ 108 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.006 . . 443.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gCc|V65A|OR10H2|mRNA|CODING|NM_013939|NM_013939.ex.1) . . . . . . . -0.9584 -0.878 -0.958 c . . . . . 7.892e-06 . . . 0 1.102e-05 0 0 0 2.374e-05 0 0 0 9.418e-06 0 0 0 1.841e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.271 @ . . . 0.28 0.18 182 ENSG00000171942 OR10H2 OR10H2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.257 . . . . T 0.038 0.002 . . 37 . 0.018 . . 0.482 . . . 0.123 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.020 . . . . . 0.145 . 0.091 . HET 1 rs201424847 . . . . . . . . . . . . V.85 . ENST00000305899 3.IV II.24 . 0.540000 O60403 . . . . . 0.042 . . II.24 0 4.065e-06 0 0 0 0 8.97e-06 0 0 0 3.236e-05 0 0 0.0006 0 0 0 . . 0.246 . 0.427 0.427000 . . 0.540000 . . 1.0E-231 0.000 0.063 . 0.100 0.741 . 0.154 . 0.108 0.427 -0.206 . . . rs74729097 rs201424847 1 1538 10 1/0 0,174,234 +rs550458906 19 16625246 G T - C19orf44 26141 Chromosome 19 open reading frame 44 NM_032207.3 1 3446 1974 NP_115583.1 Q9H6X5 substitution intron GRCh37 16625246 16625246 Chr19(GRCh37):g.16625246G>T 1736-62 1736-62 NM_032207.3:c.1736-62G>T p.? p.? 7 6 -62 3' 0 0 5,00E-06 0 0 0 5,00E-06 0 0 Cryptic Donor Strongly Activated 16625240 2.98627 0.060928 68.5693 6.59605 0.362844 73.5881 rs550458906 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000459 0.001386 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.001386 14 12 0 0 0 0 2 0 0 30534 8656 810 302 1616 0 14784 3400 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 12 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transversion G T G>T 0.008 0.609 255 PASS . . . . . 0.0023 0.0006 . . . . . . . . . 0.6296296 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.0710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . . C19orf44 C19orf44 . . . . . . 5 7.69515e-05 64976 2 3.33411e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs550458906 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv911167 . . . . . . . . . . . . . . . 0.0014 0.0005 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs550458906 19 16625246 G T - CALR3 20407 Calreticulin 3 NM_145046.4 -1 1292 1155 NP_659483.2 Q96L12 substitution upstream LRG_422 118770 118770 LRG_422:g.118770C>A -18306 -18306 NM_145046.4:c.-18306C>A p.? p.? 1 611414 -18397 5' 75.4126 4.40925 0.122378 3.64581 75.4126 4.40925 0.122378 3.64581 0 rs550458906 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000459 0.001386 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.001386 14 12 0 0 0 0 2 0 0 30534 8656 810 302 1616 0 14784 3400 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 12 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transversion C A C>A 0.008 255 PASS . . . . . 0.0023 0.0006 . . . . . . . . . 0.6296296 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.0710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . . C19orf44 C19orf44 . . . . . . 5 7.69515e-05 64976 2 3.33411e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs550458906 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv911167 . . . . . . . . . . . . . . . 0.0014 0.0005 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs368087931 19 16653217 G C - CALR3 20407 Calreticulin 3 NM_145046.4 -1 1292 1155 NP_659483.2 Q96L12 substitution upstream LRG_422 90799 90799 LRG_422:g.90799C>G -46277 -46277 NM_145046.4:c.-46277C>G p.? p.? 1 611414 -46368 5' 75.4126 4.40925 0.122378 3.64581 75.4126 4.40925 0.122378 3.64581 0 rs368087931 yes no Frequency 1 G 0.000000 0 0.000192 0.000129 0.000104 0.000000 0.000000 0.000000 0.000324 0.000000 0.000000 0.000324 25 2 1 0 0 0 22 0 0 130066 15512 9600 1784 8044 7226 67974 17456 2470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 2 1 0 0 0 22 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8189 3794 11983 3 0 3 0.000366211 0 0.000250292 0.000366211 0 0.000250292 11 transversion C G C>G 0.969 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . UTR_5_PRIME(MODIFIER||||CHERP|mRNA|CODING|NM_006387|NM_006387.ex.1) . 0.0003 0.0004 . 0.0003 0.0004 . II.51 . . . . . . . . 1.481e-04 . . . 0.0002 0.0003 0 0 0 0.0005 0 0 0 0.0001 0.0001 0 0 0.0002 0 0 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.53 0.36 182 ENSG00000085872 CHERP CHERP . uc002nei.1:c.-28C>G NM_006387:c.-28C>G . . . 12 0.000184684 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368087931 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv911167 0.000250 . . . . . 0.0001 0.0002 0.0001 0 0 0 0.0003 0 0 0.0001 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs368087931 rs368087931 1 1538 10 1/0 0,251,255 +rs368087931 19 16653217 G C - CHERP 16930 Calcium homeostasis endoplasmic reticulum protein NM_006387.5 -1 4095 2751 NP_006378.3 Q8IWX8 substitution 5'UTR GRCh37 16653217 16653217 Chr19(GRCh37):g.16653217G>C -28 -28 NM_006387.5:c.-28C>G p.? p.? 1 -53 5' 81.491 7.22671 0.920763 XI.37 81.491 7.22671 0.920763 11.472 0 rs368087931 yes no Frequency 1 G 0.000000 0 0.000192 0.000129 0.000104 0.000000 0.000000 0.000000 0.000324 0.000000 0.000000 0.000324 25 2 1 0 0 0 22 0 0 130066 15512 9600 1784 8044 7226 67974 17456 2470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 2 1 0 0 0 22 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8189 3794 11983 3 0 3 0.000366211 0 0.000250292 0.000366211 0 0.000250292 11 transversion C G C>G 0.969 0.205 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . UTR_5_PRIME(MODIFIER||||CHERP|mRNA|CODING|NM_006387|NM_006387.ex.1) . 0.0003 0.0004 . 0.0003 0.0004 . II.51 . . . . . . . . 1.481e-04 . . . 0.0002 0.0003 0 0 0 0.0005 0 0 0 0.0001 0.0001 0 0 0.0002 0 0 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.53 0.36 182 ENSG00000085872 CHERP CHERP . uc002nei.1:c.-28C>G NM_006387:c.-28C>G . . . 12 0.000184684 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368087931 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv911167 0.000250 . . . . . 0.0001 0.0002 0.0001 0 0 0 0.0003 0 0 0.0001 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs368087931 rs368087931 1 1538 10 1/0 0,251,255 +rs146980546 19 17000943 C T - F2RL3 3540 Coagulation factor II (thrombin) receptor-like 3 NM_003950.2 1 2731 1158 NP_003941.2 Q96RI0 substitution synonymous exon GRCh37 17000943 17000943 Chr19(GRCh37):g.17000943C>T 669 669 NM_003950.2:c.669C>T p.Ser223= p.Ser223Ser 2 602779 560 3' 83.5728 VII.65 0.889914 9.66363 83.5728 VII.65 0.889914 9.66363 0 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily Protease-activated receptor 4 rs146980546 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000800 0.001000 0.000000 0.001000 0.001400 0.001244 0.000680 0.001214 0.000518 0.001091 0.000067 0.001940 0.000000 0.001003 0.001940 310 15 41 5 20 2 221 0 6 249118 22058 33770 9654 18334 30036 113926 15360 5980 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 1 0 0 0 0 0 1 0 0 308 15 41 5 20 2 219 0 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8534 4371 12905 28 1 29 0.00327026 0.000228728 0.00224215 0.00327026 0.000228728 0.00224215 15 transition C T C>T 0.000 -3.023 S Ser TCC 0.220 S Ser TCT 0.185 223 255 PASS 0.01 0.0027 0.0028 . 0.0026 0.0008 0.0008 0.0014 . 0.001 0.001 ENSG00000127533:ENST00000248076:exon2:c.C669T:p.S223S F2RL3:uc002nfa.3:exon2:c.C669T:p.S223S F2RL3:NM_003950:exon2:c.C669T:p.S223S . . 0.5089286 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 112.0 . . . 0.0002 0.0022 0.0033 0.0002 0.0022 0.0033 . -0.1428 . . . . . . . . 9.975e-04 . . . 0.0006 0.0011 0.0012 0.0007 0 0.0018 0.0021 0.0001 0.0007 0.0012 0.0012 0.0012 0 0.0017 0.0021 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.29 0.51 182 ENSG00000127533 F2RL3 F2RL3 . . . . . . 110 0.00169293 64976 106 0.00176708 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs146980546 . . . . . . . . . . . . . . . . . . . . . . . 0.002242 . . . . . 0.0007 0.0013 0.0012 0.0004 0.0011 0 0.0020 0.0012 6.659e-05 0.0006 0.0011 0.0036 0.0033 0.0012 0 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs146980546 rs146980546 1 1538 10 1/0 0,253,255 +. 19 17011950 A AC - CPAMD8 23228 C3 and PZP like, alpha-2-macroglobulin domain containing 8 NM_015692.3 -1 5992 5799 NP_056507.2 duplication intron GRCh37 17011950 17011951 Chr19(GRCh37):g.17011951dup 4914+69 4914+69 NM_015692.3:c.4914+69dup p.? p.? 36 36 608841 69 5' 90.6189 10.0684 0.885514 11.1261 90.6189 10.0684 0.885514 X.82 0 New Donor Site 17011951 2.59506 0.120759 75.8313 rs77345177 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30891 8690 838 302 1616 0 14975 3488 982 30892 8690 838 302 1616 0 14976 3488 982 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15445 4345 419 151 808 0 7487 1744 491 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes G 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.97727275 . . . 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44 . . INTRON(MODIFIER||||CPAMD8|mRNA|CODING|NM_015692|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000160111 CPAMD8 CPAMD8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs386388644 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs77345177 rs77345177 1 1538 255 1.I 0,0,255 +rs1465582 19 17397501 T G - ANKLE1 26812 Ankyrin repeat and LEM domain containing 1 NM_152363.5 1 3218 2010 NP_689576.5 substitution 3'UTR GRCh37 17397501 17397501 Chr19(GRCh37):g.17397501T>G *140 *140 NM_152363.5:c.*140T>G p.? p.? 9 313 3' 89.2398 7.90473 0.928381 9.69579 89.2398 7.90473 0.928381 9.69579 0 rs1465582 yes no Frequency/1000G 2 T 0.000000 0 0.315895 0.310900 0.386500 0.145800 0.441400 0.291100 transversion T G T>G 0.000 -1.812 111 PASS . . . . . 0.31 0.32 0.29 0.15 0.44 0.39 ENSG00000160117:ENST00000598347:exon8:c.T1771G:p.L591V ANKLE1:uc010xpn.1:exon8:c.T1933G:p.L645V ANKLE1:NM_001278444:exon8:c.T1933G:p.L645V . . 0.91588783 . . @ 98 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 107.0 . . . . . . . . . . -1.4395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . 0.3159 . . . 0.26 0.59 182 ENSG00000160117 ANKLE1 ANKLE1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM 0 rs1465582 . 0.007 . . . . . . . . . . II.28 . ENST00000438921 1.VII -2.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.836 -1.836000 . . . . . 1.0E-111 . . . . . . . . . -1.836 . . rs1465582 rs1465582 rs1465582 rs1465582 1 1538 10 1.I 170,0,0 +rs61740699 19 18367995 T A - KIAA1683 29350 KIAA1683 NM_001145304.1 -1 4404 4104 NP_001138776.1 substitution missense exon GRCh37 18367995 18367995 Chr19(GRCh37):g.18367995T>A 4099 4099 NM_001145304.1:c.4099A>T p.Ile1367Phe p.Ile1367Phe 4 922 3' 81.5312 4.88455 0.88138 4.27174 81.5312 4.88455 0.88138 4.27174 0 Cryptic Acceptor Strongly Activated 18367989 4.93004 0.568374 67.9583 7.18618 0.934993 73.5897 rs61740699 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000800 0.002000 0.000000 0.011900 0.002900 0.007750 0.002625 0.002964 0.001580 0.000053 0.007278 0.011914 0.006670 0.009452 0.011914 2140 63 102 16 1 224 1505 168 61 276144 24004 34414 10124 18858 30778 126326 25186 6454 0.000058 0.000000 0.000000 0.000000 0.000000 0.000195 0.000047 0.000000 0.000620 8 0 0 0 0 3 3 0 2 2124 63 102 16 1 218 1499 168 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8489 4396 12885 111 10 121 0.012907 0.00226963 0.0093034 0.012907 0.00226963 0.0093034 65 transversion A T A>T 0.000 -0.117 I Ile ATC 0.481 F Phe TTC 0.546 1367 10 1 0 0 -1 0 0 5.II 5.II 111 132 21 C0 353.86 0.00 Deleterious 0.01 III.54 bad 2.722E-3 0.000843 255 PASS 0.002 0.01 . . 0.01 0.0008 0.0034 0.0029 . 0.012 0.002 . . . . . 0.48031497 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.080 . . 127.0 . . . 0.0023 0.0093 0.013 0.0023 0.0093 0.013 . -1.5237 -1.581 -1.524 c . . . . . 7.918e-03 . . . 0.0026 0.0074 0.0028 0 0.0050 0.0110 0.0043 0.0080 0.0024 0.0075 0.0028 0 0.0055 0.0107 0.0014 0.0079 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.041 . . exonic exonic exonic . . 0.106 0.0034 . . . 0.18 0.42 182 ENSG00000130518 KIAA1683 KIAA1683 . . . 0.000 0.029 . 690 0.0106193 64976 673 0.0112193 59986 Likely_benign . 0 . 0.186 . . . . . . . . . 37 . 0.020 . . 0.431 . . . 0.112 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.427 . . 0.436 . . . . . . 0 0.654 . . . . . 0.163 . 0.192 . HET 0 rs61740699 0.011 0.007 . . . . . 0.005036630036630037 0.0020325203252032522 0.0 0.0 0.013192612137203167 V.61 0.00214 . III.87 -0.724 . 0.010000 . . . . 0.009303 . 0.084 . . . 0.0018 0.0078 0.0029 0.0016 0 0.0065 0.0121 0.0088 0.0073 0.0041 0.0077 0.0060 0 0.0006 0.0077 0.0105 0.0132 . . 0.203 . 0.091 0.091000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.054 . 0.001 0.091 -1.121 0.013 rs61740699 rs61740699 rs61740699 rs61740699 1 1538 10 1/0 0,244,255 +rs139869066 19 19030611 G A - COPE 2234 Coatomer protein complex, subunit epsilon NM_007263.3 -1 1134 927 NP_009194.2 O14579 substitution upstream GRCh37 19030611 19030611 Chr19(GRCh37):g.19030611G>A -454 -454 NM_007263.3:c.-454C>T p.? p.? 1 606942 -580 5' 79.5269 8.16693 0.456047 9.02674 79.5269 8.16693 0.456047 9.02674 0 rs139869066 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000800 0.000000 0.000000 0.006000 0.002900 0.007098 0.002139 0.006193 0.028778 0.000053 0.001690 0.009410 0.004191 0.009161 0.028778 1959 51 213 291 1 52 1184 108 59 275998 23848 34392 10112 18834 30776 125828 25768 6440 0.000094 0.000000 0.000116 0.000593 0.000000 0.000000 0.000095 0.000000 0.000621 13 0 2 3 0 0 6 0 2 1933 51 209 285 1 52 1172 108 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4397 12922 75 9 84 0.00872093 0.00204267 0.00645856 0.00872093 0.00204267 0.00645856 32 transition C T C>T 1.000 5.613 255 PASS . 0.0018 0.01 . 0.0026 0.0008 0.0018 0.0029 . 0.006 . . DDX49:uc002nkq.2:exon1:c.G61A:p.G21S DDX49:NM_019070:exon1:c.G61A:p.G21S . . 0.488 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.907 . @ . . . . . 1 0.891 . . 125.0 . . . 0.002 0.0065 0.0087 0.002 0.0065 0.0087 . 0.5358 0.613 0.536 c . . . . . 6.619e-03 . . . 0.0026 0.0068 0.0050 0 0.0048 0.0116 0.0073 0.0015 0.0026 0.0066 0.0049 0.0001 0.0049 0.0103 0.0044 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.806 0.0018 . . . 0.68 0.55 182 ENSG00000105671 DDX49 DDX49 . . . 1.0 0.983 . 575 0.00884942 64976 566 0.00943554 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.264 . . 0.070 . . . 0.484 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.796 . . 0 0 0 0 0 0 . 0.450 . . 0.431 . . . . . . 0 0.473 . . . . . 0.887 . 0.705 . HET 0.01 rs139869066 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 17.8898 0.001338 ENST00000247003 V.48 V.48 . 0.010000 Q9Y6V7 . . . 0.006459 . 0.796 . . V.48 0.0021 0.0072 0.0061 0.0284 5.81e-05 0.0045 0.0095 0.0095 0.0017 0.0022 0.0061 0.0095 0.0397 0 0.0023 0.0091 0.0071 . . 0.072 . 2.575 2.575000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.909 . 0.665 2.575 0.917 0.01 . . rs139869066 rs139869066 1 1538 10 1/0 0,246,255 +rs139869066 19 19030611 G A - DDX49 18684 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 NM_019070.4 1 1836 1452 NP_061943.2 Q9Y6V7 substitution missense exon GRCh37 19030611 19030611 Chr19(GRCh37):g.19030611G>A 61 61 NM_019070.4:c.61G>A p.Gly21Ser p.Gly21Ser 1 -55 5' 86.3702 9.25272 0.991729 XII.15 86.3702 9.25272 0.991729 XII.76 0 DEAD-like helicase RNA helicase, DEAD-box type, Q motif rs139869066 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000800 0.000000 0.000000 0.006000 0.002900 0.007098 0.002139 0.006193 0.028778 0.000053 0.001690 0.009410 0.004191 0.009161 0.028778 1959 51 213 291 1 52 1184 108 59 275998 23848 34392 10112 18834 30776 125828 25768 6440 0.000094 0.000000 0.000116 0.000593 0.000000 0.000000 0.000095 0.000000 0.000621 13 0 2 3 0 0 6 0 2 1933 51 209 285 1 52 1172 108 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4397 12922 75 9 84 0.00872093 0.00204267 0.00645856 0.00872093 0.00204267 0.00645856 32 transition G A G>A 1.000 5.613 G Gly GGT 0.162 S Ser AGT 0.149 21 11 10 Tetraodon 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 79.35 VI.18 Tolerated 0.07 III.58 good 3.27E-1 0.006691 255 PASS . 0.0018 0.01 . 0.0026 0.0008 0.0018 0.0029 . 0.006 . . DDX49:uc002nkq.2:exon1:c.G61A:p.G21S DDX49:NM_019070:exon1:c.G61A:p.G21S . . 0.488 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.907 . @ . . . . . 1 0.891 . . 125.0 . . . 0.002 0.0065 0.0087 0.002 0.0065 0.0087 . 0.5358 0.613 0.536 c . . . . . 6.619e-03 . . . 0.0026 0.0068 0.0050 0 0.0048 0.0116 0.0073 0.0015 0.0026 0.0066 0.0049 0.0001 0.0049 0.0103 0.0044 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.806 0.0018 . . . 0.68 0.55 182 ENSG00000105671 DDX49 DDX49 . . . 1.0 0.983 . 575 0.00884942 64976 566 0.00943554 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.264 . . 0.070 . . . 0.484 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.796 . . 0 0 0 0 0 0 . 0.450 . . 0.431 . . . . . . 0 0.473 . . . . . 0.887 . 0.705 . HET 0.01 rs139869066 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 17.8898 0.001338 ENST00000247003 V.48 V.48 . 0.010000 Q9Y6V7 . . . 0.006459 . 0.796 . . V.48 0.0021 0.0072 0.0061 0.0284 5.81e-05 0.0045 0.0095 0.0095 0.0017 0.0022 0.0061 0.0095 0.0397 0 0.0023 0.0091 0.0071 . . 0.072 . 2.575 2.575000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.909 . 0.665 2.575 0.917 0.01 . . rs139869066 rs139869066 1 1538 10 1/0 0,246,255 +rs754439112 19 19136149 T A - SUGP2 18641 SURP and G-patch domain containing 2 NM_001321698.1 -1 3606 3291 NP_001308627.1 substitution synonymous exon GRCh37 19136149 19136149 Chr19(GRCh37):g.19136149T>A 1050 1050 NM_001321698.1:c.1050A>T p.Ala350= p.Ala350Ala 3 607993 -722 5' 86.1635 9.33191 0.992652 3.04653 86.1635 9.33191 0.992652 3.04653 0 rs754439112 yes no Frequency 1 T 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000054 0.000000 0.000000 0.000054 6 0 0 0 0 0 6 0 0 245904 15264 33554 9838 17248 30756 111472 22292 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 67 Exomes transversion A T A>T 0.858 -0.763 A Ala GCA 0.226 A Ala GCT 0.263 350 255 PASS . . . . . . . . . . . . . . . . 0.38297874 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.9308 . . . . . . . . 7.893e-06 . . . 0 1.116e-05 0 0 0 2.412e-05 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000064607 SUGP2 SUGP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754439112 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833778 . . . . . . 0 2.44e-05 0 0 0 0 5.383e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs151213204 19 19257933 G T - BORCS8-MEF2B 39979 BORCS8-MEF2B readthrough NM_005919.3 -1 1952 1098 NP_005910.1 Q02080 substitution synonymous exon GRCh37 19257933 19257933 Chr19(GRCh37):g.19257933G>T 453 453 NM_005919.3:c.453C>A p.Gly151= p.Gly151Gly 7 60 3' 82.8553 X.12 0.823195 9.32019 82.8553 X.12 0.823195 9.26785 0 Cryptic Donor Strongly Activated 19257932 0.000515 52.5792 0.856726 0.002321 61.4934 rs151213204 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.004219 0.000941 0.001190 0.000105 0.000056 0.001690 0.007170 0.005361 0.002677 0.007170 1076 21 38 1 1 49 825 125 16 255020 22326 31922 9566 17844 29002 115066 23318 5976 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000035 0.000000 0.000000 2 0 0 0 0 0 2 0 0 1072 21 38 1 1 49 821 125 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4391 12933 54 7 61 0.00628199 0.00159163 0.00469447 0.00628199 0.00159163 0.00469447 19 transversion C A C>A 0.976 0.932 G Gly GGC 0.342 G Gly GGA 0.246 151 255 PASS . 0.0009 . . 0.0026 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.42307693 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 52.0 . . . 0.0016 0.0047 0.0063 0.0016 0.0047 0.0063 . I.92 . . . . . . . . 4.138e-03 . . . 0.0014 0.0047 0.0013 0 0.0092 0.0081 0.0023 0.0018 0.0015 0.0063 0.0013 0 0.0105 0.0104 0.0026 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.5 0.53 182 . . . . . . . . . 301 0.00463248 64976 296 0.00493448 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151213204 . . . . . . . . . . . . . . . . . . . . . . . 0.004694 . . . . 3.VIII 0.0008 0.0042 0.0012 0.0001 6.164e-05 0.0051 0.0072 0.003 0.0017 0.0011 0.0045 0.0024 0 0 0.0069 0.0069 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0063 . . rs151213204 rs151213204 1 1538 10 1/0 0,255,255 +rs151213204 19 19257933 G T - MEF2B 6995 Myocyte enhancer factor 2B NM_001145785.1 -1 1451 1107 NP_001139257.1 substitution synonymous exon GRCh37 19257933 19257933 Chr19(GRCh37):g.19257933G>T 453 453 NM_001145785.1:c.453C>A p.Gly151= p.Gly151Gly 5 600661 60 3' 82.8553 X.12 0.823195 9.32019 82.8553 X.12 0.823195 9.26785 0 Cryptic Donor Strongly Activated 19257932 0.000515 52.5792 0.856726 0.002321 61.4934 rs151213204 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.004219 0.000941 0.001190 0.000105 0.000056 0.001690 0.007170 0.005361 0.002677 0.007170 1076 21 38 1 1 49 825 125 16 255020 22326 31922 9566 17844 29002 115066 23318 5976 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000035 0.000000 0.000000 2 0 0 0 0 0 2 0 0 1072 21 38 1 1 49 821 125 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4391 12933 54 7 61 0.00628199 0.00159163 0.00469447 0.00628199 0.00159163 0.00469447 19 transversion C A C>A 0.976 0.932 G Gly GGC 0.342 G Gly GGA 0.246 151 255 PASS . 0.0009 . . 0.0026 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.42307693 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 52.0 . . . 0.0016 0.0047 0.0063 0.0016 0.0047 0.0063 . I.92 . . . . . . . . 4.138e-03 . . . 0.0014 0.0047 0.0013 0 0.0092 0.0081 0.0023 0.0018 0.0015 0.0063 0.0013 0 0.0105 0.0104 0.0026 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.5 0.53 182 . . . . . . . . . 301 0.00463248 64976 296 0.00493448 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151213204 . . . . . . . . . . . . . . . . . . . . . . . 0.004694 . . . . 3.VIII 0.0008 0.0042 0.0012 0.0001 6.164e-05 0.0051 0.0072 0.003 0.0017 0.0011 0.0045 0.0024 0 0 0.0069 0.0069 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0063 . . rs151213204 rs151213204 1 1538 10 1/0 0,255,255 +rs201111194 19 19308293 G A - RFXANK 9987 Regulatory factor X-associated ankyrin-containing protein NM_003721.3 1 1438 783 NP_003712.1 O14593 substitution intron GRCh37 19308293 19308293 Chr19(GRCh37):g.19308293G>A 338-37 338-37 NM_003721.3:c.338-37G>A p.? p.? 6 5 603200 -37 3' 84.8125 XI.27 0.915349 8.38013 84.8125 XI.27 0.915349 VIII.26 0 rs201111194 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.001070 0.000441 0.000850 0.000000 0.000000 0.000201 0.001757 0.001034 0.000485 0.001757 282 10 28 0 0 6 210 25 3 263438 22692 32944 9802 18208 29878 119546 24184 6184 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 280 10 28 0 0 6 208 25 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8589 4401 12990 11 3 14 0.00127907 0.000681199 0.00107659 0.00127907 0.000681199 0.00107659 19 transition G A G>A 0.016 0.690 255 PASS . 0.0009 . . 0.0026 . 0.0006 0.0014 . 0.002 . . . . . . 0.53763443 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . 0.0007 0.0011 0.0013 0.0007 0.0011 0.0013 . 0.0513 . . . . . . . . 9.479e-04 . . . 0.0006 0.0009 0.0005 0 0.0008 0.0017 0 0.0001 0.0006 0.0010 0.0005 0 0.0007 0.0017 0 0.0001 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.29 0.04 182 ENSG00000064490 RFXANK RFXANK . . . . . . 71 0.00109271 64976 68 0.0011336 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201111194 . . . . . . . . . . . . . . . . . . . . . . . 0.001077 . . . . . 0.0005 0.0011 0.0008 0 0 0.0009 0.0018 0.0006 0.0002 0.0003 0.0010 0.0024 0 0 0.0020 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs201111194 rs201111194 1 1538 10 1/0 0,255,255 +rs45519443 19 19327896 T G - NCAN 2465 Neurocan NM_004386.2 1 6406 3966 NP_004377.2 O14594 substitution intron GRCh37 19327896 19327896 Chr19(GRCh37):g.19327896T>G 73+61 73+61 NM_004386.2:c.73+61T>G p.? p.? 2 2 600826 61 5' 86.3702 9.25272 0.984942 5.11576 86.3702 9.25272 0.984942 4.72471 0 rs45519443 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.006000 0.002900 0.003488 0.001032 0.004773 0.000000 0.000000 0.000000 0.005531 0.002865 0.002037 0.005531 108 9 4 0 0 0 83 10 2 30960 8722 838 302 1620 0 15006 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 9 4 0 0 0 83 10 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T G T>G 0.008 0.125 255 PASS . 0.0023 . . 0.01 . 0.0016 0.0029 . 0.006 . . . . . . 0.49367088 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||NCAN|mRNA|CODING|NM_004386|) . . . . . . . 0.2032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.56 0.45 182 ENSG00000130287 NCAN NCAN . . . . . . 445 0.00684868 64976 437 0.00728503 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45519443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0035 0.0048 0 0 0.0029 0.0055 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs45519443 rs45519443 rs45519443 rs45519443 1 1538 10 1/0 0,255,255 +rs113352973 19 19735248 A G - LPAR2 3168 Lysophosphatidic acid receptor 2 NM_004720.5 -1 1796 1056 NP_004711.2 Q9HBW0 substitution synonymous exon GRCh37 19735248 19735248 Chr19(GRCh37):g.19735248A>G 873 873 NM_004720.5:c.873T>C p.Asn291= p.Asn291Asn 3 605110 131 3' 85.1378 XI.39 0.89848 12.0653 85.1378 XI.39 0.89848 12.0653 0 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs113352973 yes no Frequency/1000G 2 A 0.000000 0 0.004393 0.000000 0.000000 0.000000 0.016900 0.007200 0.008291 0.001374 0.003342 0.002365 0.000053 0.003964 0.010657 0.022990 0.009282 0.022990 2297 33 115 24 1 122 1349 593 60 277056 24014 34414 10146 18864 30778 126582 25794 6464 0.000101 0.000000 0.000000 0.000000 0.000000 0.000065 0.000079 0.000543 0.000309 14 0 0 0 0 1 5 7 1 2269 33 115 24 1 120 1339 579 58 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8518 4399 12917 82 7 89 0.00953488 0.00158874 0.006843 0.00953488 0.00158874 0.006843 92 transition T C T>C 1.000 0.448 N Asn AAT 0.464 N Asn AAC 0.536 291 255 PASS . 0.01 0.01 . 0.02 . 0.0044 0.0072 . 0.017 . . . LPAR2:NM_004720:exon3:c.T873C:p.N291N . . 0.48494983 . . @ 145 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 299.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N291|LPAR2|mRNA|CODING|NM_004720|NM_004720.ex.3) 0.0016 0.0068 0.0095 0.0016 0.0068 0.0095 . 0.7049 . . . . . . . . 8.524e-03 . . . 0.0010 0.0067 0.0031 0 0.0226 0.0093 0.0070 0.0045 0.0009 0.0082 0.0031 0 0.0239 0.0109 0.0130 0.0045 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0044 . . . 0.35 0.25 182 ENSG00000064547 LPAR2 LPAR2 . . . . . . 628 0.00966511 64976 606 0.0101024 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113352973 . . . . . . . . . . . . . . . . . . . . . . . 0.006843 . . . . . 0.0010 0.0083 0.0033 0.0022 5.798e-05 0.0232 0.0107 0.0084 0.0040 0.0021 0.0085 0.0036 0.0066 0 0.0218 0.0101 0.0143 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs113352973 rs113352973 1 1538 10 1/0 0,211,229 +rs1266503 (chr19:19735257 G/T) 19 19735257 G T Transcript NM_004720.5: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) LPAR2 +rs73010671 (chr19:20108013 A/C) 19 20108013 A C Not on a known gene +rs77006494 (chr19:20108024 A/G) 19 20108024 A G Not on a known gene +rs113817582 (chr19:20108194 C/T) 19 20108194 C T Not on a known gene +rs796439428 (chr19:20108208 T/C) 19 20108208 T C Not on a known gene +rs796695178 (chr19:20108209 G/A) 19 20108209 G A Not on a known gene +rs796829664 (chr19:20108215 T/G) 19 20108215 T G Not on a known gene +. 19 20510080 A T - MIR1270 35338 MicroRNA 1270 NR_036053.1 -1 83 0 substitution downstream GRCh37 20510080 20510080 Chr19(GRCh37):g.20510080A>T *1 *1 NR_036053.1:n.*1T>A p.? p.? 1 transversion T A T>A 0.028 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.8 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 10.0 . . DOWNSTREAM(MODIFIER||||MIR1270|Non-coding_transcript|NON_CODING|NR_036053|) . . . . . . . -0.3466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic downstream downstream . . . @ . . . 0.38 0.18 182 ENSG00000231205 MIR1270-1 MIR1270 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs2216611 rs2216611 rs2216611 1 1538 10 1/0 0,255,255 +rs2216611 19 20579239 A T - ZNF826P 33875 Zinc finger protein 826, pseudogene NR_036455.1 -1 636 0 substitution intron GRCh37 20579239 20579239 Chr19(GRCh37):g.20579239A>T 256-233 256-233 NR_036455.1:n.256-233T>A p.? p.? 3 2 -233 3' 87.8484 11.0467 0.953731 5.04197 87.8484 11.0467 0.953731 5.04197 0 rs2216611 yes no Frequency/HapMap/1000G 3 0.000000 0 transversion T A T>A 0.803 1.497 255 PASS . . . . . . . . . . . . . . . . 0.64285713 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . -0.1248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.26 182 ENSG00000231205 ZNF826P ZNF826P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs116539467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2216611 rs2216611 rs2216611 rs116539467 1 1538 10 1/0 0,255,255 +rs572982513 19 21203724 G T - ZNF430 20808 Zinc finger protein 430 NM_025189.3 1 3919 1713 NP_079465.3 Q9H8G1 substitution intron GRCh37 21203724 21203724 Chr19(GRCh37):g.21203724G>T 3+115 3+115 NM_025189.3:c.3+115G>T p.? p.? 1 1 115 5' 81.491 7.22671 0.91438 6.90166 81.491 7.22671 0.91438 6.90166 0 Cryptic Acceptor Strongly Activated 21203727 0.000176 63.4163 6.44966 0.175229 68.0616 rs572982513 yes no Frequency/1000G 2 0.000998 T 5 0.000998 0.001500 0.000000 0.000000 0.002000 0.001400 0.002777 0.000573 0.005967 0.000000 0.000000 0.000000 0.004732 0.001431 0.000000 0.005967 86 5 5 0 0 0 71 5 0 30966 8730 838 302 1620 0 15004 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 5 5 0 0 0 71 5 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 0.004 0.286 255 PASS . . . . . 0.0015 0.001 0.0014 . 0.002 . . . . . . 0.42944786 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.1582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . . . . ENSG00000118620 ZNF430 ZNF430 . . . . . . 237 0.0036475 64976 232 0.00386757 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0028 0.0060 0 0 0.0014 0.0047 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs767452395 19 22155691 A G - ZNF208 12999 Zinc finger protein 208 NM_007153.3 -1 9088 3843 NP_009084.2 O43345 substitution synonymous exon GRCh37 22155691 22155691 Chr19(GRCh37):g.22155691A>G 2145 2145 NM_007153.3:c.2145T>C p.His715= p.His715His 4 603977 1919 3' 92.8116 9.57129 0.986753 5.47322 92.8116 9.57129 0.986753 5.47322 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs767452395 yes no Frequency 1 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 234988 14480 33202 9634 16982 30538 106722 18120 5310 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 120 Exomes transition T C T>C 0.953 -0.682 H His CAT 0.413 H His CAC 0.587 715 187 PASS . . . . . . . . . . . ENSG00000160321:ENST00000397126:exon4:c.T2145C:p.H715H ZNF208:uc021urr.1:exon4:c.T2145C:p.H715H ZNF208:NM_007153:exon4:c.T2145C:p.H715H . . 0.12857144 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . SYNONYMOUS_CODING(LOW|SILENT|caT/caC|H715|ZNF208|mRNA|CODING|NM_007153|NM_007153.ex.4) . . . . . . . 0.1395 . . . . . . . . 2.303e-04 . . . 0.0001 0.0002 0.0003 0.0004 0 0.0002 0 0.0002 0.0001 0.0002 0.0003 0.0004 0 0.0002 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000160321 ZNF208 ZNF208 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs767452395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.256e-06 0 0 0 0 9.37e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs201427226 19 22155696 T C - ZNF208 12999 Zinc finger protein 208 NM_007153.3 -1 9088 3843 NP_009084.2 O43345 substitution missense exon GRCh37 22155696 22155696 Chr19(GRCh37):g.22155696T>C 2140 2140 NM_007153.3:c.2140A>G p.Ile714Val p.Ile714Val 4 603977 1914 3' 92.8116 9.57129 0.986753 5.47322 92.8116 9.57129 0.986753 5.47322 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs201427226 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.961 0.205 I Ile ATT 0.356 V Val GTT 0.178 714 12 7 Zebrafish 3 3 4 0 0 5.II 5.IX 111 84 29 C0 109.43 0.00 Tolerated 1 II.76 bad 7.405E-3 0.0003309 194 PASS . . . . . . . . . . . ENSG00000160321:ENST00000397126:exon4:c.A2140G:p.I714V ZNF208:uc021urr.1:exon4:c.A2140G:p.I714V ZNF208:NM_007153:exon4:c.A2140G:p.I714V . . 0.14492753 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.265 . . 69.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I714V|ZNF208|mRNA|CODING|NM_007153|NM_007153.ex.4) . . . . . . . -0.5375 -0.825 -0.537 c . . . . . 4.606e-04 . . . 0.0005 0.0005 0.0004 0.0006 0 0.0006 0 0.0004 0.0004 0.0004 0.0003 0.0008 0 0.0003 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.106 @ . . . 0.17 0.19 182 ENSG00000160321 ZNF208 ZNF208 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.022 . . 0.450 . . . 0.163 0.212 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.670 . . 0.637 . . . . . . 0 0.119 . . . . . 0.047 . 0.149 . LowAF 0.21 rs201427226 . . . . . . . . . . . . II.11 . . 1.IX -0.727 . 0.200000 O43345 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.730 -0.730000 . . 0.200000 . . 1.0E-194 0.000 0.063 . 0.043 0.306 . 0.075 . 0.287 -0.730 0.643 . . . rs201427226 rs201427226 1 1538 10 1/0 0,246,255 +rs200459967 19 22155725 C G - ZNF208 12999 Zinc finger protein 208 NM_007153.3 -1 9088 3843 NP_009084.2 O43345 substitution missense exon GRCh37 22155725 22155725 Chr19(GRCh37):g.22155725C>G 2111 2111 NM_007153.3:c.2111G>C p.Trp704Ser p.Trp704Ser 4 603977 1885 3' 92.8116 9.57129 0.986753 5.47322 92.8116 9.57129 0.986753 5.47322 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs200459967 no no 0 C 0.000000 0 0.000048 0.000197 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000197 7 2 0 0 0 0 5 0 0 145960 10172 22314 6060 10898 19418 63426 9976 3696 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.763 W Trp TGG 1.000 S Ser TCG 0.056 704 12 4 Olive baboon -4 -3 -6 0.13 I.42 5.IV 9.II 170 32 177 C0 191.09 0.00 Tolerated 0.42 II.76 good 1.784E-1 0.1817 191 PASS . . . . . . . . . . . ENSG00000160321:ENST00000397126:exon4:c.G2111C:p.W704S ZNF208:uc021urr.1:exon4:c.G2111C:p.W704S ZNF208:NM_007153:exon4:c.G2111C:p.W704S . . 0.13846155 . . @ 9 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.030 . . 65.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tCg|W704S|ZNF208|mRNA|CODING|NM_007153|NM_007153.ex.4) . . . . . . . -1.0081 -1.246 -1.008 c . . . . . . . . . 0.0920 0.0871 0.0782 0.1004 0.0568 0.0872 0.0947 0.0916 0.0793 0.0716 0.0750 0.0857 0.0448 0.0644 0.0764 0.0913 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . 0.046 @ . . . 0.09 0.12 182 ENSG00000160321 ZNF208 ZNF208 . . . 0.000 0.012 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.236 . . 0.212 . . . 0.007 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.414 . . 0 0 0 0 0 0 . 0.390 . . 0.432 . . . . . . 0 0.101 . . . . . 0.076 . 0.218 . LowAF 0.75 rs200459967 . . . . . . . . . . . . III.47 0.063811 . II.43 -3.35 . 0.450000 O43345 . . . . . 0.029 . . . 0 3.701e-05 0 0 0 0 8.65e-05 0 0 0.0008 0.0002 0 0 0 0 0 0 . . 0.133 . -0.864 -0.864000 . . 0.450000 . . 1.0E-191 0.000 0.063 . 0.016 0.008 . 0.001 . 0.023 -0.864 0.567 . . . rs200459967 rs200459967 1 1538 10 1/0 0,248,255 +rs75690456 19 22363413 C T - ZNF676 20429 Zinc finger protein 676 NM_001001411.2 -1 2934 1767 NP_001001411.2 Q8N7Q3 substitution missense exon GRCh37 22363413 22363413 Chr19(GRCh37):g.22363413C>T 1106 1106 NM_001001411.2:c.1106G>A p.Gly369Glu p.Gly369Glu 3 976 3' 92.8116 10.1899 0.986256 5.83441 92.8116 10.1899 0.986256 5.83441 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs75690456 yes no Frequency 1 T 0.000000 0 0.000739 0.001348 0.000910 0.000896 0.002010 0.000632 0.000619 0.000133 0.000649 0.002010 159 20 22 8 23 16 64 3 3 215272 14834 24176 8926 11444 25308 103428 22536 4620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 159 20 22 8 23 16 64 3 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3756559|COSM3756559 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000283 2231|3530 transition G A G>A 0.039 0.286 G Gly GGA 0.246 E Glu GAA 0.417 369 11 2 Chimp -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 264.92 0.00 Tolerated 1 III.14 bad 8.293E-6 0.0001263 190 PASS . . . . . . . . . . . ENSG00000196109:ENST00000397121:exon3:c.G1106A:p.G369E ZNF676:uc002nqs.1:exon3:c.G1106A:p.G369E ZNF676:NM_001001411:exon3:c.G1106A:p.G369E . . 0.13636364 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.015 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G369E|ZNF676|mRNA|CODING|NM_001001411|NM_001001411.ex.3) . . . . . . . -1.9181 -1.925 -1.918 c . . . . . . . . . 0 1.111e-05 0 0 0 2.376e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.580 . . exonic exonic exonic . . 0.077 @ . . . 0.42 0.37 182 ENSG00000196109 ZNF676 ZNF676 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.092 0.004 . . 37 . 0.148 . . 0.212 . . . 0.009 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.102 . . 0.121 . . . . . . 0 0.010 . . . . . 0.121 . 0.092 . LowAF 1 rs75690456 0.109 0.130 . . . . . . . . . . IV.27 . ENST00000397121 0.85 -1.7 . 1.000000 Q8N7Q3 . . . . . 0.003 . . . 0.0006 0.0006 0.0009 0.0008 0.0020 4.821e-05 0.0004 0.0007 0.0006 0.0033 0.0030 0 0.0060 0.0026 0.0011 0.0037 0 . . 0.133 . -1.083 -1.083000 . . 1.000000 . . 1.0E-190 0.000 0.063 . 0.016 0.001 . 0.062 . 0.001 -1.083 -1.095 0.11 . . rs75690456 rs75690456 1 1538 10 1/0 0,255,255 +rs775934244 19 22847567 A G - ZNF492 23707 Zinc finger protein 492 NM_020855.2 1 4245 1596 NP_065906.1 Q9P255 substitution missense exon GRCh37 22847567 22847567 Chr19(GRCh37):g.22847567A>G 1096 1096 NM_020855.2:c.1096A>G p.Lys366Glu p.Lys366Glu 4 966 3' 92.4688 8.86393 0.981741 5.50298 92.4688 8.86393 0.981741 5.50298 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs775934244 yes no Frequency 1 0.000000 0 0.000056 0.000000 0.000042 0.000000 0.000083 0.000000 0.000046 0.000171 0.000251 0.000171 9 0 1 0 1 0 3 3 1 161520 9202 23580 7228 12104 23380 64530 17512 3984 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 1 0 1 0 3 3 1 0 0 0 0 0 0 0 0 0 RF 59 Exomes transition A G A>G 0.220 -1.974 K Lys AAA 0.425 E Glu GAA 0.417 366 12 11 Giant panda 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 238.71 16.18 Deleterious 0 III.17 190 PASS . . . . . . . . . . . ENSG00000229676:ENST00000456783:exon4:c.A1096G:p.K366E ZNF492:uc002nqw.3:exon4:c.A1096G:p.K366E ZNF492:NM_020855:exon4:c.A1096G:p.K366E . . 0.13725491 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.103 . @ . . . . . 1 0.072 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K366E|ZNF492|mRNA|CODING|NM_020855|NM_020855.ex.4) . . . . . . . -0.9909 -1.309 -0.991 c . . . . . 2.438e-05 . . . 0 4.906e-05 0 0 0 0.0001 0 0 0 0.0001 0 0 0.0004 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.576 . . exonic exonic exonic . . 0.065 @ . . . 0.37 0.35 182 ENSG00000229676 ZNF492 ZNF492 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.244 0.009 . . 37 . 0.533 . . 0.428 . . . 0.195 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.692 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.586 . . . . . 0.001 . 0.118 . LowAF 0.1 rs775934244 . . . . . . . . . . . . 0.1206 . ENST00000456783 1.XII -2.25 . 0.230000 Q9P255 . . . . . 0.028 . . . 0 5.572e-05 4.241e-05 0 8.262e-05 0.0002 4.649e-05 0.0003 0 . . . . . . . . . . 0.133 . -1.141 -1.141000 . . 0.230000 . . 1.0E-190 0.000 0.063 . 0.043 0.624 . 0.049 . 0.047 -1.141 -0.175 . rs4100184 rs4100184 rs4100184 rs4100184 1 1538 10 1/0 0,255,255 +rs183193312 19 22939552 T C - ZNF99 13175 Zinc finger protein 99 NM_001080409.2 -1 7881 2595 NP_001073878.2 A8MXY4 substitution 3'UTR GRCh37 22939552 22939552 Chr19(GRCh37):g.22939552T>C *564 *564 NM_001080409.2:c.*564A>G p.? p.? 4 603981 2933 3' 90.0141 8.49056 0.966191 4.21161 90.0141 8.49056 0.966191 4.21161 0 rs183193312 yes no Frequency/1000G 2 T 0.000000 0 0.004193 0.000000 0.000000 0.000000 0.015900 0.007200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 239310 14374 33366 9610 17180 30728 106896 21800 5356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 105 Exomes 8350 3760 12110 80 4 84 0.00948992 0.0010627 0.00688863 0.00948992 0.0010627 0.00688863 46 transition A G A>G 0.000 -0.117 255 PASS . 0.0046 0.01 . 0.01 . 0.0042 0.0072 . 0.016 . ENSG00000213973:ENST00000397104:exon7:c.A2619G:p.S873S . . . . 0.41935483 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . UTR_3_PRIME(MODIFIER||||ZNF99|mRNA|CODING|NM_001080409|NM_001080409.ex.4) 0.0011 0.0069 0.0095 0.0011 0.0069 0.0095 . -0.2494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR3 UTR3 . . . 0.0042 . . . 0.3 0.3 182 ENSG00000213973 ZNF99 ZNF99 . uc021urt.1:c.*564A>G NM_001080409:c.*564A>G . . . 824 0.0126816 64976 803 0.0133865 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183193312 . . . . . . . . . . . . . . . . . . . . . . . 0.006889 . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs183193312 rs183193312 1 1538 10 1/0 0,255,255 +rs186681590 19 22939556 G A - ZNF99 13175 Zinc finger protein 99 NM_001080409.2 -1 7881 2595 NP_001073878.2 A8MXY4 substitution 3'UTR GRCh37 22939556 22939556 Chr19(GRCh37):g.22939556G>A *560 *560 NM_001080409.2:c.*560C>T p.? p.? 4 603981 2929 3' 90.0141 8.49056 0.966191 4.21161 90.0141 8.49056 0.966191 4.21161 0 rs186681590 yes no Frequency/1000G 2 G 0.000000 0 0.003395 0.000000 0.000000 0.000000 0.011900 0.007200 0.000005 0.000119 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000119 1 1 0 0 0 0 0 0 0 221780 8370 31602 9120 15066 29798 101420 21418 4986 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 113 Exomes transition C T C>T 0.000 -1.570 255 PASS 0.14 0.06 0.02 0.05 0.03 . 0.0034 0.0072 . 0.012 . ENSG00000213973:ENST00000397104:exon7:c.C2615T:p.S872F . . . . 0.5483871 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.045 . @ . . . . . 2 0.020 . . 31.0 . . UTR_3_PRIME(MODIFIER||||ZNF99|mRNA|CODING|NM_001080409|NM_001080409.ex.4) . . . . . . . -1.9949 -2.149 -1.995 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.363 . . exonic UTR3 UTR3 . . 0.057 0.0034 . . . 0.27 0.22 182 ENSG00000213973 ZNF99 ZNF99 . uc021urt.1:c.*560C>T NM_001080409:c.*560C>T 0.000 0.029 . 832 0.0128047 64976 811 0.0135198 59986 . . 0 . . . . . . . . . . . 37 . 0.002 . . 0.290 . . . . 0.090 . . . . . . . . . . . . . . . 0.527 . . . . . . 0 . . 0.144 . . 0.170 . . . . . . 0 0.045 . . . . . 0.111 . 0.072 . HET 0.23 rs186681590 . . . . . . . 0.05631868131868132 0.13617886178861788 0.022099447513812154 0.0472027972027972 0.027704485488126648 IV.01 0.002238 ENST00000397104 I.32 -2.64 . 0.500000 A8MXY4 . . . . . 0.007 . . . 0.0001 4.509e-06 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.638 -1.638000 . . 0.500000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.001 . 0.000 -1.638 -0.512 0.14 . . rs186681590 rs186681590 1 1538 10 1/0 0,255,255 +rs757467965 19 24118194 T G - ZNF726 32462 Zinc finger protein 726 NM_001244038.1 1 1964 1851 NP_001230967.1 substitution downstream GRCh37 24118194 24118194 Chr19(GRCh37):g.24118194T>G *1425 *1425 NM_001244038.1:c.*1425T>G p.? p.? 4 3050 3' 92.288 X.04 0.994547 5.12947 92.288 X.04 0.994547 5.12947 0 rs757467965 yes no Frequency 1 0.000000 0 0.000392 0.000044 0.000909 0.003512 0.000000 0.000000 0.000286 0.000000 0.000159 0.003512 103 1 31 35 0 0 35 0 1 262610 22628 34118 9966 18546 30504 122482 18092 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 1 31 35 0 0 35 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.976 1.577 255 PASS . . . . . . . . . . . ENSG00000213967:ENST00000322487:exon7:c.T2135G:p.I712S . . . . 0.41666666 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.102 . @ . . . . . 3 0.152 . . 36.0 . . DOWNSTREAM(MODIFIER||||ZNF726|mRNA|CODING|NM_001244038|) . . . . . . . -0.4217 -0.594 -0.422 c . . . . . 3.195e-04 . . . 0 0.0005 0.0010 0 0 0.0008 0 0 0 0.0004 0.0011 0 0 0.0006 0 0 nonsynonymous_SNV . . 0.600 . . exonic ncRNA_intronic intergenic . . 0.079 @ . . . . . . ENSG00000213967 AK125686 . . . dist\x3d1425\x3bdist\x3d98013 0.000 0.044 . 11 0.000169293 64976 11 0.000183376 59986 . . 0 . . . . . . T 0.142 0.005 . . 37 . 0.497 . . 0.513 . . . . 0.810 . . . . . . . . . . . . . . . 0.087 . . . . . . 0 . . . . . . . . . . . . 0 0.721 . . . . . 0.111 . 0.314 . HET 0 rs757467965 . . . . . . . . . . . . IV.77 . ENST00000322487 0.814 -1.63 . 0.000000 . . . . . . 0.064 . . . 7.192e-05 0.0004 0.0009 0.0034 0 0 0.0003 0.0002 0 0 9.69e-05 0 0.0066 0 0 6.662e-05 0 . . 0.133 . 0.158 0.158000 . . 0.000000 . . 1.0E-255 0.714 0.285 . 0.016 0.018 . 0.412 . 0.008 0.158 -0.613 . . . . . 1 1538 10 1/0 0,255,255 +rs150031604 19 24126520 T C - ZNF726 32462 Zinc finger protein 726 NM_001244038.1 1 1964 1851 NP_001230967.1 substitution downstream GRCh37 24126520 24126520 Chr19(GRCh37):g.24126520T>C *9751 *9751 NM_001244038.1:c.*9751T>C p.? p.? 4 11376 3' 92.288 X.04 0.994547 5.12947 92.288 X.04 0.994547 5.12947 0 rs150031604 yes no Frequency/1000G 2 0.000000 0 0.002596 0.000800 0.000000 0.000000 0.002000 0.014400 0.001001 0.000917 0.005967 0.003311 0.000000 0.000000 0.000867 0.000573 0.002041 0.005967 31 8 5 1 0 0 13 2 2 30954 8720 838 302 1620 0 15002 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 8 5 1 0 0 13 2 2 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition T C T>C 0.000 -0.037 255 PASS 0.0041 0.0037 0.01 . 0.0026 0.0008 0.0026 0.014 . 0.002 . . . . . . 0.5285714 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . 0.0026 . . . 0.45 0.67 182 ENSG00000269289 AK125686 . . . dist\x3d9751\x3bdist\x3d89687 . . . 114 0.00175449 64976 102 0.0017004 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs150031604 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0010 0.0060 0.0033 0 0.0006 0.0009 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs150031604 rs150031604 1 1538 10 1/0 0,255,255 +rs1127493 19 30500143 T C - URI1 13236 URI1, prefoldin-like chaperone NM_003796.3 1 3460 1608 NP_003787.2 O94763 substitution synonymous exon GRCh37 30500143 30500143 Chr19(GRCh37):g.30500143T>C 918 918 NM_003796.3:c.918T>C p.Asp306= p.Asp306Asp 8 603494 -118 5' 70.6833 III.85 0.228565 0 70.6833 III.85 0.228565 0 0 rs1127493 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.009100 0.000000 0.000000 0.005000 0.001400 0.003382 0.013810 0.001869 0.000403 0.000109 0.001392 0.002699 0.004848 0.003823 0.013810 908 324 63 4 2 42 329 120 24 268492 23462 33716 9932 18298 30174 121878 24754 6278 0.000022 0.000170 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 3 2 0 0 0 0 1 0 0 901 319 63 4 2 42 327 120 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3756587|COSM3756587|COSM3756587|COSM3756587|COSM3756587 Thymus|Lung|Liver|Large intestine|Kidney 0.006579|0.000419|0.000844|0.000896|0.001048 152|2389|2371|2231|1909 transition T C T>C 0.000 -4.072 D Asp GAT 0.461 D Asp GAC 0.539 306 201 PASS . . . . . 0.0091 0.0036 0.0014 . 0.005 . . . . . . 0.1641791 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 0 . . . 67.0 . . . . . . . . . . -0.5013 . . . . . . . . . . . . 0.0148 0.0036 0.0012 0.0002 0.0046 0.0025 0.0059 0.0016 0.0145 0.0036 0.0012 0.0001 0.0052 0.0031 0.0045 0.0016 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.59 0.48 182 ENSG00000105176 URI1 URI1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1127493 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv519832 . . . . . . 0.0132 0.0030 0.0019 0.0004 0.0001 0.0049 0.0027 0.0036 0.0014 0.0148 0.0062 0.0025 0 0 0.0047 0.0025 0.0052 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . rs1127493 rs1127493 rs1127493 rs1127493 1 1538 10 1/0 0,249,255 +rs142812224 19 33378696 T C - CEP89 25907 Centrosomal protein 89kDa NM_032816.4 -1 2671 2352 NP_116205.3 Q96ST8 substitution missense exon GRCh37 33378696 33378696 Chr19(GRCh37):g.33378696T>C 1927 1927 NM_032816.4:c.1927A>G p.Ser643Gly p.Ser643Gly 17 615470 -39 5' 99.6933 X.84 0.99816 5.37157 99.6933 X.84 0.99816 5.15129 0 rs142812224 yes no Frequency/1000G 2 T 0.000000 0 0.001997 0.000000 0.003100 0.000000 0.005000 0.002900 0.004644 0.001249 0.002267 0.001084 0.000000 0.003218 0.007301 0.004499 0.004329 0.007301 1287 30 78 11 0 99 925 116 28 277146 24012 34402 10148 18868 30764 126698 25786 6468 0.000029 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 4 0 1 0 0 0 2 1 0 1279 30 76 11 0 99 921 114 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4404 12935 67 2 69 0.00779251 0.000453926 0.00530606 0.00779251 0.000453926 0.00530606 112 COSM5365330 Large intestine 0.001793 2231 transition A G A>G 0.992 0.528 S Ser AGC 0.243 G Gly GGC 0.342 643 12 5 Zebrafish 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 55.27 0.00 Tolerated 1 3.I 255 PASS . 0.0018 . . 0.01 . 0.002 0.0029 . 0.005 0.0031 ENSG00000121289:ENST00000305768:exon17:c.A1927G:p.S643G . CEP89:NM_032816:exon17:c.A1927G:p.S643G . . 0.5510204 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.003 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S643G|CEP89|mRNA|CODING|NM_032816|NM_032816.ex.17) 0.0005 0.0053 0.0078 0.0005 0.0053 0.0078 . -1.0880 -0.970 -1.088 c . . . . . 5.123e-03 . . . 0.0015 0.0041 0.0020 0 0.0055 0.0060 0.0029 0.0037 0.0016 0.0051 0.0020 0 0.0044 0.0077 0 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.873 . . exonic exonic exonic . . 0.140 0.0020 . . . 0.5 0.26 182 ENSG00000121289 CEP89 CEP89 . . . 0.000 0.071 . 329 0.00506341 64976 319 0.00531791 59986 Likely_benign . 0 . 0.486 . . . . T 0.303 0.012 . . 37 . 0.558 . . 0.422 . . . 0.003 0.211 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.369 . 0.007 . HET 1 rs142812224 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 IX.01 5.35E-4 ENST00000305768 V.15 0.127 . 0.390000 Q96ST8 . . . 0.005306 . 0.115 . . . 0.0012 0.0048 0.0023 0.0011 0 0.0046 0.0076 0.0042 0.0032 0.0013 0.0036 0.0012 0 0 0.0037 0.0053 0.0051 . . 0.730 . 0.024 0.024000 . . 0.390000 . . 1.0E-255 1.000 0.715 . 0.251 0.596 . 0.443 . 0.110 0.024 -0.342 0.01 . . rs142812224 rs142812224 1 1538 10 1/0 0,255,255 +rs200498530 19 33490667 G A - RHPN2 19974 Rhophilin, Rho GTPase binding protein 2 NM_033103.4 -1 3531 2061 NP_149094.3 Q8IUC4 substitution intron GRCh37 33490667 33490667 Chr19(GRCh37):g.33490667G>A 1106-56 1106-56 NM_033103.4:c.1106-56C>T p.? p.? 10 9 -56 3' 87.6741 X.87 0.679184 XII.43 87.6741 X.87 0.679184 XII.13 0 Cryptic Acceptor Weakly Activated 33490650 6.32353 0.041483 72.7595 6.95252 0.094984 72.7595 rs200498530 yes no Frequency 1 G 0.000000 0 0.000232 0.000589 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.001035 0.000589 7 5 0 0 0 0 1 0 1 30228 8484 796 294 1568 0 14720 3400 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 5 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition C T C>T 0.000 -0.924 207 PASS . . . . . . . . . . . . . . . . 0.17699115 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . INTRON(MODIFIER||||RHPN2|mRNA|CODING|NM_033103|) . . . . . . . -0.4108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.19 182 ENSG00000131941 RHPN2 RHPN2 . . . . . . 377 0.00580214 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200498530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0 0 0 0 6.793e-05 0.0010 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs200498530 rs200498530 1 1538 10 1/0 0,228,255 +rs774966453 19 35434960 C T - ZNF30 13090 Zinc finger protein 30 NM_001099437.1 1 2587 1875 NP_001092907.1 substitution stop gain exon GRCh37 35434960 35434960 Chr19(GRCh37):g.35434960C>T 1093 1093 NM_001099437.1:c.1093C>T p.Arg365* p.Arg365* 5 834 3' 87.6427 X.56 0.980992 4.15144 87.6427 X.56 0.980992 4.15144 0 Cryptic Acceptor Weakly Activated 35434960 4.03951 0.019005 73.8642 4.23012 0.032236 73.3784 Zinc finger, C2H2 Zinc finger, C2H2-like rs774966453 yes no Frequency 1 C 0.000000 0 0.000051 0.000042 0.000029 0.000000 0.000530 0.000000 0.000016 0.000000 0.000000 0.000530 14 1 1 0 10 0 2 0 0 277128 24008 34410 10150 18868 30782 126654 25790 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 1 0 10 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 0.205 R Arg CGA 0.110 * * TGA 0.489 365 255 PASS . . . . . . . . . . . . . . . . 0.36893204 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.954 . @ . . . . . 0 0.317 . . 103.0 . . . . . . . . . . -0.6249 -1.075 -0.625 c . . . . . 3.158e-05 . . . 0 3.319e-05 0 0.0005 0 0 0 0 0 3.779e-05 0 0.0005 0 0 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.036 @ . . . . . . ENSG00000168661 ZNF30 ZNF30 . . . 0.353 0.197 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.013 . . . HET 1 rs774966453 . . . . . . . . . . . . 0.9665 . . 2.VII -4.15 . 1.000000 . . . Name\x3dnsv523802 . . 0.089 . . . 0 4.874e-05 2.979e-05 0 0.0006 0 8.956e-06 0 0 0.0001 6.467e-05 0 0 0 0 6.67e-05 0 . . 0.372 . -1.418 -1.418000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.801 . 0.009 . 0.006 -1.418 -0.677 . . . . . 1 1538 10 1/0 0,248,255 +. 19 36213534 T G - KMT2B 15840 Lysine (K)-specific methyltransferase 2B NM_014727.2 1 8471 8148 NP_055542.1 Q9UMN6 substitution missense exon GRCh37 36213534 36213534 Chr19(GRCh37):g.36213534T>G 2636 2636 NM_014727.2:c.2636T>G p.Leu879Arg p.Leu879Arg 5 606834 65 3' 89.1395 IX.55 0.9274 13.1322 89.1395 IX.55 0.9274 13.5593 0 Methyltransferase, trithorax transversion T G T>G 1.000 4.402 L Leu CTG 0.404 R Arg CGG 0.207 879 12 9 Zebrafish -2 -2 -4 0 0.65 4.IX 10.V 111 124 102 C0 177.30 21.IV Tolerated 0.06 II.93 255 PASS . . . . . . . . . . . . . KMT2B:NM_014727:exon5:c.T2636G:p.L879R . . 0.48251748 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.764 . @ . . . . . 1 0.602 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L879R|KMT2B|mRNA|CODING|NM_014727|NM_014727.ex.5) . . . . . . . 0.7399 0.732 0.740 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.957 . . exonic exonic exonic . . 0.775 @ . . . . . . ENSG00000272333 KMT2B KMT2B . . . 1.000 0.403 . . . . . . . Uncertain_significance . 0 . 0.316 . . . . D 0.946 0.466 . . 37 . 0.965 . . 0.971 . . . 0.505 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.790 . . 0 0 0 0 0 0 . 0.764 . . 0.875 . . . . . . 0 0.912 . . . . . 0.674 . 0.851 . HET 0 . . . . . . . . . . . . . 14.5357 . . V.39 V.39 . 0.000000 Q9UMN6 . . . . . 0.698 . . V.39 . . . . . . . . . . . . . . . . . . . 0.730 . 2.263 2.263000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.653 0.992 . 0.802 . 0.807 2.263 0.991 . . . . . 1 1538 10 1/0 0,245,255 +rs200264198 19 36348116 G A - KIRREL2 18816 Kin of IRRE like 2 (Drosophila) NM_199180.3 1 2993 2127 NP_954649.3 Q6UWL6 substitution intron GRCh37 36348116 36348116 Chr19(GRCh37):g.36348116G>A 61+34 61+34 NM_199180.3:c.61+34G>A p.? p.? 1 1 607762 34 5' 71.4999 10.0514 0.767098 X.74 71.4999 10.0514 0.767098 X.44 0 Cryptic Donor Strongly Activated 36348113 0.032211 68.5228 III.42 0.236027 72.8852 rs200264198 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000400 0.000128 0.000029 0.000000 0.000000 0.000000 0.000820 0.000078 0.000313 0.000820 109 3 1 0 0 0 101 2 2 272238 23498 34276 9894 18802 30598 123192 25598 6380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 109 3 1 0 0 0 101 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4403 12989 10 1 11 0.00116333 0.000227066 0.000846154 0.00116333 0.000227066 0.000846154 22 transition G A G>A 0.000 1.013 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . 0.4155 . . . . . . . . 5.528e-04 . . . 0.0002 0.0004 0 0 0 0.0008 0 0 0.0002 0.0006 0 0 0 0.0011 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.24 0.41 182 ENSG00000126259 KIRREL2 KIRREL2 . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200264198 . . . . . . . . . . . . . . . . . . . . . . . 0.000846 . . . . . 0.0001 0.0004 2.991e-05 0 0 9.047e-05 0.0008 0.0004 0 0.0001 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs200264198 rs200264198 1 1538 10 1/0 0,255,255 +rs200264198 19 36348116 G A - NPHS1 7908 NPHS1, nephrin NM_004646.3 -1 5024 3726 NP_004637.1 O60500 substitution upstream LRG_693 17074 17074 LRG_693:g.17074C>T -5377 -5377 NM_004646.3:c.-5377C>T p.? p.? 1 602716 -5435 5' 95.331 X.37 0.994661 9.35584 95.331 X.37 0.994661 9.35584 0 rs200264198 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000400 0.000128 0.000029 0.000000 0.000000 0.000000 0.000820 0.000078 0.000313 0.000820 109 3 1 0 0 0 101 2 2 272238 23498 34276 9894 18802 30598 123192 25598 6380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 109 3 1 0 0 0 101 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4403 12989 10 1 11 0.00116333 0.000227066 0.000846154 0.00116333 0.000227066 0.000846154 22 transition C T C>T 0.000 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . 0.4155 . . . . . . . . 5.528e-04 . . . 0.0002 0.0004 0 0 0 0.0008 0 0 0.0002 0.0006 0 0 0 0.0011 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.24 0.41 182 ENSG00000126259 KIRREL2 KIRREL2 . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200264198 . . . . . . . . . . . . . . . . . . . . . . . 0.000846 . . . . . 0.0001 0.0004 2.991e-05 0 0 9.047e-05 0.0008 0.0004 0 0.0001 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs200264198 rs200264198 1 1538 10 1/0 0,255,255 +rs7257466 19 38135444 C G - ZFP30 29555 ZFP30 zinc finger protein NM_001320666.2 -1 6196 1560 NP_001307595.1 Q9Y2G7 substitution intron GRCh37 38135444 38135444 Chr19(GRCh37):g.38135444C>G 136+67 136+67 NM_001320666.2:c.136+67G>C p.? p.? 4 4 617317 67 5' 81.1326 VIII.68 0.991691 0 81.1326 VIII.68 0.991691 0 0 rs7257466 no no 0 C 0.000000 0 transversion G C G>C 0.008 -1.086 194 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||ZFP30|mRNA|CODING|NM_014898|) . . . . . . . -0.6409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.07 182 ENSG00000120784 ZFP30 ZFP30 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs7257466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs7257466 rs7257466 rs7257466 rs7257466 1 1538 10 1/0 0,255,255 +rs112783899 19 38377772 C T - WDR87 29934 WD repeat domain 87 NM_001291088.1 -1 9102 8739 NP_001278017.1 substitution missense exon GRCh37 38377772 38377772 Chr19(GRCh37):g.38377772C>T 6539 6539 NM_001291088.1:c.6539G>A p.Arg2180Gln p.Arg2180Gln 6 3145 3' 92.123 VIII.92 0.973138 9.28463 92.123 VIII.92 0.973138 9.28463 0 rs112783899 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.000800 0.005100 0.000000 0.008900 0.005800 0.009651 0.002253 0.006487 0.019953 0.000000 0.006377 0.014764 0.005761 0.010528 0.019953 1750 37 160 170 0 142 1075 115 51 181320 16420 24664 8520 11832 22268 72810 19962 4844 0.000110 0.000000 0.000081 0.000235 0.000000 0.000090 0.000165 0.000000 0.000413 10 0 1 1 0 1 6 0 1 1730 37 158 168 0 140 1063 115 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.609 R Arg CGG 0.207 Q Gln CAG 0.744 2180 12 4 Olive baboon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.07 III.66 255 PASS . 0.0037 0.0028 . 0.01 0.0008 0.0038 0.0058 . 0.0089 0.0051 . . . . . 0.59183675 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.098 . . 49.0 . . . . . . . . . . -1.1415 -1.109 -1.141 c . . . . . 9.017e-03 . . . 0.0027 0.0104 0.0146 0 0.0238 0.0162 0.0103 0.0064 0.0032 0.0090 0.0101 0 0.0031 0.0169 0.0056 0.0065 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.639 . . exonic exonic exonic . . 0.142 0.0038 . . . 0.2 0.32 182 ENSG00000171804 WDR87 WDR87 . . . 0.001 0.073 . 811 0.0124815 64976 792 0.0132031 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.316 . . 0.167 . . . 0.094 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.028 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 0.194 . . . . . 0.293 . 0.012 . HET 0.26 rs112783899 . . . . . . . 0.003663003663003663 0.0 0.0027624309392265192 0.0 0.009234828496042216 VII.92 0.007123 . 4.VI 0.163 . 0.390000 . . . Name\x3dnsv833820 . . 0.005 . . . 0.0026 0.0099 0.0065 0.0200 0 0.0054 0.0152 0.0114 0.0064 0.0020 0.0083 0.0060 0.0199 0 0.0075 0.0131 0.0071 . . 0.133 . 0.041 0.041000 . . 0.390000 . . 1.0E-255 0.001 0.137 . 0.062 0.001 . 0.170 . 0.054 0.041 -0.500 0.01 . . rs112783899 rs112783899 1 1538 10 1/0 0,255,255 +rs117354953 19 38896204 T G - FAM98C 27119 Family with sequence similarity 98 member C NM_174905.3 1 1275 1050 NP_777565.3 Q17RN3 substitution missense exon GRCh37 38896204 38896204 Chr19(GRCh37):g.38896204T>G 679 679 NM_174905.3:c.679T>G p.Cys227Gly p.Cys227Gly 6 46 3' 90.64 5.00857 0.961183 4.03226 90.64 5.00857 0.961183 4.29531 0 Uncharacterised protein family FAM98 rs117354953 yes no Frequency/1000G 2 T 0.000000 0 0.004792 0.000800 0.002000 0.000000 0.016900 0.005800 0.009032 0.002668 0.005055 0.005713 0.000053 0.002729 0.014817 0.006710 0.011139 0.014817 2503 64 174 58 1 84 1877 173 72 277136 23988 34418 10152 18868 30782 126680 25784 6464 0.000115 0.000000 0.000000 0.000000 0.000000 0.000130 0.000189 0.000155 0.000000 16 0 0 0 0 2 12 2 0 2471 64 174 58 1 80 1853 169 72 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8463 4366 12829 127 12 139 0.0147846 0.00274098 0.0107187 0.0147846 0.00274098 0.0107187 57 transversion T G T>G 0.921 1.497 C Cys TGC 0.552 G Gly GGC 0.342 227 12 9 Zebrafish -3 -3 -6 II.75 0.74 5.V 9 55 3 159 C0 232.01 29.38 Tolerated 0.41 II.77 good 6.418E-1 0.4075 255 PASS 0.0041 0.01 0.01 0.0017 0.02 0.0008 0.0048 0.0058 . 0.017 0.002 . . FAM98C:NM_174905:exon6:c.T679G:p.C227G . . 0.48818898 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.662 . @ . . . . . 1 0.268 . . 127.0 . . . 0.0027 0.011 0.015 0.0027 0.011 0.015 . 0.0098 0.050 0.010 c . . . . . 9.288e-03 . . . 0.0029 0.0081 0.0045 0 0.0047 0.0138 0.0085 0.0028 0.0028 0.0092 0.0046 0 0.0068 0.0147 0.0087 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.454 0.0048 . . . 0.42 0.29 182 ENSG00000130244 FAM98C FAM98C . . . 0.761 0.235 . 770 0.0118505 64976 747 0.0124529 59986 Uncertain_significance . 0 . 0.152 . . . . . . . . . 37 . 0.258 . . 0.143 . . . 0.867 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.846 . . 0 0 0 0 0 0 . 0.478 . . 0.381 . . . . . . 7 0.632 . . . . . 0.342 . 0.127 . HET 0 rs117354953 0.022 0.014 . . . . . 0.0086996336996337 0.0040650406504065045 0.008287292817679558 0.0017482517482517483 0.017150395778364115 VIII.57 0.002695 . 5.II III.99 . 0.270000 . . . . 0.010719 . 0.510 . . III.99 0.0028 0.0090 0.0049 0.0056 0 0.0064 0.0148 0.0119 0.0027 0.0024 0.0096 0.0095 0.0099 0.0006 0.0089 0.0151 0.0071 . . 0.924 . 0.738 0.738000 . . 0.270000 . . 1.0E-255 0.992 0.373 . 0.408 0.915 . 0.372 . 0.767 0.738 0.991 0.022 . . rs117354953 rs117354953 1 1538 10 1/0 0,250,255 +rs140135310 19 39303413 T A - LGALS4 6565 Lectin, galactoside-binding, soluble, 4 NM_006149.3 -1 1279 972 NP_006140.1 P56470 substitution intron GRCh37 39303413 39303413 Chr19(GRCh37):g.39303413T>A 45+69 45+69 NM_006149.3:c.45+69A>T p.? p.? 1 1 602518 69 5' 81.3945 8.72199 0.953829 X.04 81.3945 8.72199 0.953829 X.35 0 rs140135310 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000000 0.003100 0.000000 0.010900 0.004300 0.008715 0.001959 0.001196 0.000000 0.000000 0.000000 0.012292 0.015535 0.013598 0.015535 267 17 1 0 0 0 182 54 13 30638 8680 836 300 1584 0 14806 3476 956 0.003745 0.058824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 265 15 1 0 0 0 182 54 13 0 0 0 0 0 0 0 0 0 PASS 42 Genomes 3135 1382 4517 47 2 49 0.0147706 0.00144509 0.0107315 0.0147706 0.00144509 0.0107315 40 transversion A T A>T 0.000 -1.328 255 PASS . 0.01 0.0028 . 0.01 . 0.0034 0.0043 . 0.011 0.0031 . . . . . 0.5769231 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . 0.0014 0.011 0.015 0.0014 0.011 0.015 . -0.1950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . 0.0034 . . . 0.3 0.19 182 ENSG00000171747 LGALS4 LGALS4 ENST00000594209:c.-299A>T . . . . . 594 0.00914184 64976 577 0.00961891 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs140135310 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010731 . . . . . . . . . . . . . . 0.0020 0.0087 0.0012 0 0 0.0155 0.0123 0.0136 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.015 . . rs140135310 rs140135310 1 1538 10 1/0 0,255,255 +rs769203717 19 39787294 T A - IFNL1 18363 Interferon, lambda 1 NM_172140.1 1 856 603 NP_742152.1 Q8IU54 substitution intron GRCh37 39787294 39787294 Chr19(GRCh37):g.39787294T>A 171+62 171+62 NM_172140.1:c.171+62T>A p.? p.? 1 1 607403 62 5' 82.9985 9.27414 0.981155 7.24253 82.9985 9.27414 0.981155 7.09953 0 New Acceptor Site 39787296 5.56906 0.917962 80.6541 rs769203717 yes no Frequency 1 T 0.000000 0 0.000420 0.000458 0.000000 0.000000 0.000000 0.000000 0.000600 0.000000 0.000000 0.000600 13 4 0 0 0 0 9 0 0 30964 8728 838 302 1622 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 4 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T A T>A 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.4054054 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . INTRON(MODIFIER||||IFNL1|mRNA|CODING|NM_172140|) . . . . . . . -0.3108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000182393 IFNL1 IFNL1 . . . . . . 41 0.000631002 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs769203717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0004 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs187869018 19 39882050 C A - MED29 23074 Mediator complex subunit 29 NM_017592.2 1 3661 666 NP_060062.1 substitution synonymous exon GRCh37 39882050 39882050 Chr19(GRCh37):g.39882050C>A 51 51 NM_017592.2:c.51C>A p.Val17= p.Val17Val 1 612914 -229 5' 83.2449 5.94804 0.466768 6.53163 83.2449 5.94804 0.466768 6.53163 0 rs187869018 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.000000 0.007200 0.000547 0.000251 0.001194 0.006742 0.000000 0.000000 0.000230 0.000000 0.001087 0.006742 151 6 41 68 0 0 29 0 7 276102 23948 34332 10086 18844 30690 126088 25676 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 6 41 68 0 0 29 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 34 transversion C A C>A 0.000 -0.198 V Val GTC 0.240 V Val GTA 0.114 17 255 PASS . 0.0014 0.01 . . . 0.001 0.0072 . . . . MED29:uc002olf.3:exon1:c.C51A:p.V17V MED29:NM_017592:exon1:c.C51A:p.V17V . . 0.56435645 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.11 . . . . . . . . 3.789e-04 . . . 0.0002 0.0005 0.0009 0 0 0.0008 0 0 0.0002 0.0004 0.0007 0 0 0.0006 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.6 0.46 182 ENSG00000063322 MED29 MED29 . . . . . . 13 0.000200074 64976 8 0.000133364 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187869018 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 6.573e-05 0.0006 0.0012 0.0070 0 0 0.0002 0.0013 0 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187869018 rs187869018 1 1538 10 1/0 0,255,255 +rs187869018 19 39882050 C A - PAF1 25459 PAF1 homolog, Paf1/RNA polymerase II complex component NM_019088.3 -1 2289 1596 NP_061961.2 Q8N7H5 substitution upstream GRCh37 39882050 39882050 Chr19(GRCh37):g.39882050C>A -546 -546 NM_019088.3:c.-546G>T p.? p.? 1 610506 -593 5' 84.1408 9.87848 0.969629 X.41 84.1408 9.87848 0.969629 X.41 0 rs187869018 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.000000 0.007200 0.000547 0.000251 0.001194 0.006742 0.000000 0.000000 0.000230 0.000000 0.001087 0.006742 151 6 41 68 0 0 29 0 7 276102 23948 34332 10086 18844 30690 126088 25676 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 6 41 68 0 0 29 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 34 transversion G T G>T 0.000 -0.198 255 PASS . 0.0014 0.01 . . . 0.001 0.0072 . . . . MED29:uc002olf.3:exon1:c.C51A:p.V17V MED29:NM_017592:exon1:c.C51A:p.V17V . . 0.56435645 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.11 . . . . . . . . 3.789e-04 . . . 0.0002 0.0005 0.0009 0 0 0.0008 0 0 0.0002 0.0004 0.0007 0 0 0.0006 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.6 0.46 182 ENSG00000063322 MED29 MED29 . . . . . . 13 0.000200074 64976 8 0.000133364 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187869018 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 6.573e-05 0.0006 0.0012 0.0070 0 0 0.0002 0.0013 0 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187869018 rs187869018 1 1538 10 1/0 0,255,255 +rs112350522 19 40319260 C T - DYRK1B 3092 Dual specificity tyrosine phosphorylation regulated kinase 1B NM_004714.2 -1 2570 1890 NP_004705.1 Q9Y463 substitution intron GRCh37 40319260 40319260 Chr19(GRCh37):g.40319260C>T 521-37 521-37 NM_004714.2:c.521-37G>A p.? p.? 6 5 604556 -37 3' 74.0117 XI.25 0.961562 12.849 74.0117 XI.25 0.961562 13.0626 0 rs112350522 yes no Frequency/1000G 2 C 0.000000 0 0.008586 0.028700 0.000000 0.000000 0.000000 0.007200 0.001835 0.015543 0.002165 0.000000 0.000000 0.000116 0.000236 0.000000 0.002033 0.015543 449 339 69 0 0 3 26 0 12 244702 21810 31870 8488 17874 25940 110190 22626 5904 0.000049 0.000550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 6 6 0 0 0 0 0 0 0 437 327 69 0 0 3 26 0 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4333 12929 4 73 77 0.000465116 0.0165683 0.00592034 0.000465116 0.0165683 0.00592034 28 transition G A G>A 0.000 -1.005 255 PASS 0.03 0.01 0.01 . . 0.029 0.0086 0.0072 . . . . . . . . 0.3809524 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . 0.017 0.0059 0.0005 0.017 0.0059 0.0005 . -0.4863 . . . . . . . . 1.746e-03 . . . 0.0200 0.0028 0.0023 0 0 0.0002 0.0022 0.0003 0.0202 0.0021 0.0021 0 0 0.0002 0.0048 0.0003 . . . . . . intronic intronic intronic . . . 0.0086 . . . 0.39 0.15 182 ENSG00000105204 DYRK1B DYRK1B . . . . . . 60 0.000923418 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112350522 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.005920 . . . . . 0.0160 0.0015 0.0022 0 0 0 0.0002 0.0018 0.0001 0.0149 0.0044 0 0 0 0 0.0003 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 . . rs112350522 rs112350522 1 1538 10 1/0 0,255,255 +rs112350522 19 40319260 C T - MIR6719 50012 MicroRNA 6719 NR_106777.1 -1 87 0 substitution downstream GRCh37 40319260 40319260 Chr19(GRCh37):g.40319260C>T *1096 *1096 NR_106777.1:n.*1096G>A p.? p.? 1 rs112350522 yes no Frequency/1000G 2 C 0.000000 0 0.008586 0.028700 0.000000 0.000000 0.000000 0.007200 0.001835 0.015543 0.002165 0.000000 0.000000 0.000116 0.000236 0.000000 0.002033 0.015543 449 339 69 0 0 3 26 0 12 244702 21810 31870 8488 17874 25940 110190 22626 5904 0.000049 0.000550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 6 6 0 0 0 0 0 0 0 437 327 69 0 0 3 26 0 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4333 12929 4 73 77 0.000465116 0.0165683 0.00592034 0.000465116 0.0165683 0.00592034 28 transition G A G>A 0.000 -1.005 255 PASS 0.03 0.01 0.01 . . 0.029 0.0086 0.0072 . . . . . . . . 0.3809524 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . 0.017 0.0059 0.0005 0.017 0.0059 0.0005 . -0.4863 . . . . . . . . 1.746e-03 . . . 0.0200 0.0028 0.0023 0 0 0.0002 0.0022 0.0003 0.0202 0.0021 0.0021 0 0 0.0002 0.0048 0.0003 . . . . . . intronic intronic intronic . . . 0.0086 . . . 0.39 0.15 182 ENSG00000105204 DYRK1B DYRK1B . . . . . . 60 0.000923418 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112350522 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.005920 . . . . . 0.0160 0.0015 0.0022 0 0 0 0.0002 0.0018 0.0001 0.0149 0.0044 0 0 0 0 0.0003 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 . . rs112350522 rs112350522 1 1538 10 1/0 0,255,255 +. 19 40383697 C T - FCGBP 13572 Fc fragment of IgG binding protein NM_003890.2 -1 16390 16218 NP_003881.2 Q9Y6R7 substitution missense exon GRCh37 40383697 40383697 Chr19(GRCh37):g.40383697C>T 9913 9913 NM_003890.2:c.9913G>A p.Gly3305Arg p.Gly3305Arg 21 617553 -147 5' 90.6189 10.0684 0.995252 18.1701 90.6189 10.0684 0.995252 18.1701 0 New Acceptor Site 40383695 5.30957 0.094223 71.1988 von Willebrand factor, type D domain 0.001741 0.005541 0.000852 0.001377 0.000620 0.000158 0.001506 0.001916 0.003445 0.005541 118 47 10 2 5 1 40 6 7 67776 8482 11732 1452 8060 6318 26568 3132 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 118 47 10 2 5 1 40 6 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6238656 Liver 0.000422 2371 transition G A G>A 0.000 0.286 G Gly GGA 0.246 R Arg AGA 0.205 3305 12 2 Chimp -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000090920:ENST00000221347:exon21:c.G9913A:p.G3305R FCGBP:uc002omp.4:exon21:c.G9913A:p.G3305R FCGBP:NM_003890:exon21:c.G9913A:p.G3305R . . 0.11111111 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.395 . @ . . . . . 1 0.124 . . 90.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G3305R|FCGBP|mRNA|CODING|NM_003890|NM_003890.ex.21) . . . . . . . -0.4482 -0.709 -0.448 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.152 @ . . . 0.43 0.38 182 ENSG00000090920 FCGBP FCGBP . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.160 0.006 . . 37 . 0.578 . . 0.461 . . . 0.238 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.657 . . 0.647 . . . . . . 0 . . . . . . 0.107 . 0.114 . LowAF 0.11 . . . . . . . . . . . . . 4.387 . ENST00000221347 II.58 0.344 . 0.290000 Q9Y6R7 . . . . . 0.063 . . . 0.0002 0.0005 0.0008 0.0015 0.0003 0 0.0004 0.0020 0.0002 0.0132 0.0060 0.0022 0 0.0056 0.0031 0.0039 0.0078 . . 0.372 . 0.364 0.364000 . . 0.290000 . . 1.0E-179 0.000 0.063 . 0.117 0.002 . 0.094 . 0.291 0.364 0.853 . . . rs78608182 rs78608182 1 1538 10 1/0 0,232,255 +rs762214476 19 40386524 C T - FCGBP 13572 Fc fragment of IgG binding protein NM_003890.2 -1 16390 16218 NP_003881.2 Q9Y6R7 substitution synonymous exon GRCh37 40386524 40386524 Chr19(GRCh37):g.40386524C>T 8790 8790 NM_003890.2:c.8790G>A p.Val2930= p.Val2930Val 19 617553 -79 5' 80.8656 8.78894 0.958981 XI.61 80.8656 8.78894 0.958981 XI.39 0 von Willebrand factor, type D domain rs762214476 yes no Frequency 1 C 0.000000 0 0.002451 0.019569 0.001423 0.000000 0.000000 0.000000 0.000379 0.000000 0.000000 0.019569 85 69 11 0 0 0 5 0 0 34680 3526 7730 808 2928 3176 13178 2288 1046 0.000058 0.000000 0.000259 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 83 69 9 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427904 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.953 -1.167 V Val GTG 0.468 V Val GTA 0.114 2930 255 PASS . . . . . . . . . . . ENSG00000090920:ENST00000221347:exon19:c.G8790A:p.V2930V FCGBP:uc002omp.4:exon19:c.G8790A:p.V2930V FCGBP:NM_003890:exon19:c.G8790A:p.V2930V . . 0.45945945 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V2930|FCGBP|mRNA|CODING|NM_003890|NM_003890.ex.19) . . . . . . . -0.0150 . . . . . . . . 1.154e-04 . . . 0.0132 0.0035 0 0 . 0 0 0 0.0238 0.0097 0 0 . 0 . 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.35 182 ENSG00000090920 FCGBP FCGBP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762214476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0219 0.0022 0.0015 0 0 0 0.0004 0 0 0.015 0.0037 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2111545 rs2111545 rs2111545 rs2111545 1 1538 10 1/0 0,255,255 +rs202095416 19 40400338 G A - FCGBP 13572 Fc fragment of IgG binding protein NM_003890.2 -1 16390 16218 NP_003881.2 Q9Y6R7 substitution synonymous exon GRCh37 40400338 40400338 Chr19(GRCh37):g.40400338G>A 5751 5751 NM_003890.2:c.5751C>T p.Asp1917= p.Asp1917Asp 12 617553 -89 5' 84.0719 8.94615 0.928887 11.905 84.0719 8.94615 0.928887 11.905 0 Cryptic Acceptor Strongly Activated 40400325 3.68632 0.038889 76.5489 4.15578 0.136345 79.6645 Uncharacterised domain, cysteine-rich rs202095416 yes no Frequency 1 G 0.000000 0 0.003521 0.011149 0.002326 0.005435 0.000857 0.003463 0.003549 0.000000 0.000000 0.011149 32 13 3 1 2 5 8 0 0 9088 1166 1290 184 2334 1444 2254 186 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 13 3 1 2 5 8 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5426431 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 0.528 D Asp GAC 0.539 D Asp GAT 0.461 1917 203 PASS . . . . . . . . . . . ENSG00000090920:ENST00000221347:exon12:c.C5751T:p.D1917D FCGBP:uc002omp.4:exon12:c.C5751T:p.D1917D FCGBP:NM_003890:exon12:c.C5751T:p.D1917D . . 0.16666667 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1917|FCGBP|mRNA|CODING|NM_003890|NM_003890.ex.12) . . . . . . . 0.5110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.46 182 ENSG00000090920 FCGBP FCGBP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202095416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.84 0.0126 0.0036 0.0023 0.0054 0.0009 0 0.0036 0 0.0035 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs74625068 rs202095416 1 1538 10 1/0 0,226,255 +rs114290052 19 40513191 C T - ZNF546 28671 Zinc finger protein 546 NM_178544.4 1 8027 2511 NP_848639.2 Q86UE3 substitution missense exon GRCh37 40513191 40513191 Chr19(GRCh37):g.40513191C>T 182 182 NM_178544.4:c.182C>T p.Ala61Val p.Ala61Val 5 11 3' 89.0495 5.74057 0.8959 5.23229 89.0495 5.74057 0.876849 4.70991 -0.00708822 Cryptic Acceptor Strongly Activated 40513198 IV.75 0.401815 83.0383 4.72638 0.507867 84.549 Krueppel-associated box rs114290052 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.013600 0.000000 0.000000 0.000000 0.001400 0.001401 0.014225 0.000410 0.000000 0.000062 0.000080 0.000110 0.000000 0.000353 0.014225 348 319 11 0 1 2 13 0 2 248328 22426 26830 8932 16124 25070 117940 25334 5672 0.000024 0.000268 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 3 0 0 0 0 0 0 0 342 313 11 0 1 2 13 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4342 12938 4 64 68 0.000465116 0.0145256 0.00522836 0.000465116 0.0145256 0.00522836 89 transition C T C>T 0.031 0.932 A Ala GCA 0.226 V Val GTA 0.114 61 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.65 II.86 255 PASS 0.01 0.0023 0.0028 . . 0.014 0.0038 0.0014 . . . . . . . . 0.59615386 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.684 . @ . . . . . 1 0.539 . . 52.0 . . . 0.015 0.0052 0.0005 0.015 0.0052 0.0005 . -0.7226 -0.712 -0.723 c . . . . . 1.342e-03 . . . 0.0148 0.0018 0.0005 0 0 9.555e-05 0 0.0001 0.0155 0.0015 0.0005 0 0 9.253e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.018 . . exonic exonic exonic . . 0.320 0.0038 . . . 0.54 0.26 182 ENSG00000187187 ZNF546 ZNF546 . . . 0.993 0.332 . 33 0.00050788 64976 14 0.000233388 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.012 . . 0.443 . . . 0.048 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.188 . . 0.227 . . . . . . 0 0.496 . . . . . 0.286 . 0.107 . HET 0.01 rs114290052 . . . . . . . 0.0022893772893772895 0.008130081300813009 0.0027624309392265192 0.0 0.0 VII.57 0.017121 ENST00000347077 II.83 II.83 . 0.010000 . . . Name\x3ddgv1082e1 0.005228 . 0.108 . . II.83 0.0151 0.0011 0.0004 0 6.894e-05 0 0.0001 0 7.978e-05 0.0128 0.0037 0 0 0 0 0.0001 0.0020 . . 0.093 . 1.571 1.571000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.216 0.265 . 0.177 . 0.310 1.571 0.791 0.015 . . rs114290052 rs114290052 1 1538 10 1/0 0,255,255 +rs73046351 19 40887079 G A - HIPK4 19007 Homeodomain interacting protein kinase 4 NM_144685.4 -1 2486 1851 NP_653286.2 Q8NE63 substitution splice site GRCh37 40887079 40887079 Chr19(GRCh37):g.40887079G>A 823-4 823-4 NM_144685.4:c.823-4C>T p.? p.? 3 2 611712 -4 3' 77.7867 9.97531 0.922185 10.0488 77.7867 8.60177 0.94243 8.86083 -0.0385802 rs73046351 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000122 0.000000 0.000412 0.000000 0.000000 0.000000 0.000119 0.000000 0.000483 0.000412 31 0 14 0 0 0 14 0 3 254804 22856 33970 9514 18696 29612 117896 16048 6212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 0 14 0 0 0 14 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8365 4274 12639 3 0 3 0.000358509 0 0.000237304 0.000358509 0 0.000237304 29 transition C T C>T 0.819 1.093 255 PASS . 0.0009 0.01 . . . 0.0004 0.0029 . . . . . . . . 0.44852942 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . 0.0002 0.0004 . 0.0002 0.0004 . 1.1607 . . . . . . . . 7.970e-05 . . . 0 7.556e-05 0.0003 0 0 8.224e-05 0 0 0 7.202e-05 0.0003 0 0 7.873e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.51 0.35 182 ENSG00000160396 HIPK4 HIPK4 . . . . . . 7 0.000107732 64976 5 8.33528e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs73046351 . 0.007 . . . . . . . . . . . . . . . . . . 0.0002 0.05 . 0.000237 . . . . III.49 0 0.0001 0.0004 0 0 0 0.0001 0.0004 0 0 9.694e-05 0 0 0 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs73046351 rs73046351 rs73046351 1 1538 10 1/0 0,244,255 +. 19 41192610 T TAGAG - NUMBL 8061 NUMB like, endocytic adaptor protein NM_004756.4 -1 3568 1830 NP_004747.1 Q9Y6R0 insertion intron GRCh37 41192610 41192611 Chr19(GRCh37):g.41192610_41192611insAGAG 109+205 109+206 NM_004756.4:c.109+205_109+206insCTCT p.? p.? 2 2 604018 205 5' 89.8591 9.60237 0.990286 11.1382 89.8591 9.60237 0.990286 11.1382 0 Cryptic Acceptor Strongly Activated 41192593 V.39 0.723775 71.5395 6.59476 0.841421 71.5395 CTCT 255 Pass . . . . . . . . . . . . . . . . 0.46 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000105245 NUMBL NUMBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv3871n71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +rs115927680 19 41247799 T C - C19orf54 24758 Chromosome 19 open reading frame 54 NM_001353809.1 -1 2479 1134 NP_001340738.1 substitution intron GRCh37 41247799 41247799 Chr19(GRCh37):g.41247799T>C 975-30 975-30 NM_001353809.1:c.975-30A>G p.? p.? 7 6 -30 3' 83.4981 8.08333 0.967905 8.64296 83.4981 8.08333 0.967905 8.32699 0 rs115927680 yes no Frequency/1000G 2 T 0.000000 0 0.006989 0.023400 0.000000 0.000000 0.000000 0.005800 0.002349 0.020822 0.001914 0.000000 0.000000 0.000044 0.000223 0.000000 0.001739 0.020822 381 310 47 0 0 1 15 0 8 162220 14888 24558 8270 11530 22488 67152 8734 4600 0.000012 0.000134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 379 308 47 0 0 1 15 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -0.037 255 PASS 0.04 0.01 0.01 . . 0.023 0.007 0.0058 . . . . . . . . 0.55172414 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 58.0 . . . . . . . . . . -0.0065 . . . . . . . . 9.706e-04 . . . 0.0201 0.0011 0.0053 0 0 0.0003 0 0 0.0202 0.0007 0.0069 0 0 0.0004 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0070 . . . 0.38 0.46 182 ENSG00000188493 C19orf54 C19orf54 . . NM_198476:c.*539A>G . . . 54 0.000831076 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115927680 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0223 0.0016 0.0019 0 0 0 0.0002 0.0022 4.447e-05 0.0197 0.0057 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 . . rs115927680 rs115927680 1 1538 10 1/0 0,255,255 +rs115927680 19 41247799 T C - ITPKC 14897 Inositol 1,4,5-trisphosphate 3-kinase C NM_025194.2 1 3385 2052 NP_079470.1 Q96DU7 substitution downstream GRCh37 41247799 41247799 Chr19(GRCh37):g.41247799T>C *2334 *2334 NM_025194.2:c.*2334T>C p.? p.? 7 606476 2538 3' 83.5255 X.83 0.883941 13.0337 83.5255 X.83 0.883941 13.0337 0 rs115927680 yes no Frequency/1000G 2 T 0.000000 0 0.006989 0.023400 0.000000 0.000000 0.000000 0.005800 0.002349 0.020822 0.001914 0.000000 0.000000 0.000044 0.000223 0.000000 0.001739 0.020822 381 310 47 0 0 1 15 0 8 162220 14888 24558 8270 11530 22488 67152 8734 4600 0.000012 0.000134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 379 308 47 0 0 1 15 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.037 255 PASS 0.04 0.01 0.01 . . 0.023 0.007 0.0058 . . . . . . . . 0.55172414 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 58.0 . . . . . . . . . . -0.0065 . . . . . . . . 9.706e-04 . . . 0.0201 0.0011 0.0053 0 0 0.0003 0 0 0.0202 0.0007 0.0069 0 0 0.0004 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0070 . . . 0.38 0.46 182 ENSG00000188493 C19orf54 C19orf54 . . NM_198476:c.*539A>G . . . 54 0.000831076 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115927680 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0223 0.0016 0.0019 0 0 0 0.0002 0.0022 4.447e-05 0.0197 0.0057 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 . . rs115927680 rs115927680 1 1538 10 1/0 0,255,255 +rs116493527 19 41269551 C T - SNRPA 11151 Small nuclear ribonucleoprotein polypeptide A NM_004596.4 1 1629 849 NP_004587.1 P09012 substitution synonymous exon GRCh37 41269551 41269551 Chr19(GRCh37):g.41269551C>T 660 660 NM_004596.4:c.660C>T p.Asn220= p.Asn220Asn 5 182285 -30 5' 74.8217 9.13691 0.97532 X.74 74.8217 9.13691 0.97532 9.91697 0 RNA recognition motif domain rs116493527 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.014400 0.000000 0.003000 0.000000 0.005800 0.001984 0.014822 0.001714 0.000000 0.004876 0.000065 0.000229 0.000000 0.001856 0.014822 550 356 59 0 92 2 29 0 12 277204 24018 34420 10152 18868 30782 126710 25790 6464 0.000022 0.000250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 3 0 0 0 0 0 0 0 544 350 59 0 92 2 29 0 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4356 12955 1 50 51 0.000116279 0.0113482 0.00392127 0.000116279 0.0113482 0.00392127 181 transition C T C>T 0.969 -0.037 N Asn AAC 0.536 N Asn AAT 0.464 220 255 PASS 0.02 0.01 0.01 0.0035 . 0.014 0.0052 0.0058 0.003 . . . SNRPA:uc002ooz.3:exon5:c.C660T:p.N220N SNRPA:NM_004596:exon5:c.C660T:p.N220N . . 0.42727274 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 110.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N220|SNRPA|mRNA|CODING|NM_004596|NM_004596.ex.5) 0.011 0.0039 0.0001 0.011 0.0039 0.0001 . 0.8891 . . . . . . . . 1.792e-03 . . . 0.0142 0.0021 0.0015 0.0034 0 0.0002 0 0 0.0138 0.0017 0.0015 0.0033 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0052 . . . 0.35 0.23 182 ENSG00000077312 SNRPA SNRPA . . . . . . 42 0.000646393 64976 16 0.000266729 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116493527 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833832 0.003921 . . . . . 0.0152 0.0016 0.0017 0 0.0045 0 0.0002 0.0022 6.497e-05 0.0142 0.0047 0.0012 0 0.0093 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs116493527 rs116493527 1 1538 10 1/0 0,253,255 +rs150973573 19 41307140 C T - EGLN2 14660 Egl nine homolog 2 (C. elegans) NM_080732.3 1 2155 1224 NP_542770.2 Q96KS0 substitution synonymous exon GRCh37 41307140 41307140 Chr19(GRCh37):g.41307140C>T 663 663 NM_080732.3:c.663C>T p.Asp221= p.Asp221Asp 2 606424 -181 5' 94.6745 X.23 0.998714 13.2834 94.6745 X.23 0.998714 13.2834 0 Prolyl 4-hydroxylase, alpha subunit rs150973573 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.004500 0.000000 0.000000 0.000000 0.005800 0.000848 0.006932 0.001048 0.000000 0.000160 0.000033 0.000160 0.000000 0.001243 0.006932 233 165 36 0 3 1 20 0 8 274664 23802 34366 10108 18760 30758 125204 25228 6438 0.000007 0.000084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 231 163 36 0 3 1 20 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4386 12983 1 18 19 0.000116306 0.00408719 0.00146131 0.000116306 0.00408719 0.00146131 51 COSM1393896 Large intestine 0.000448 2231 transition C T C>T 0.874 -0.602 D Asp GAC 0.539 D Asp GAT 0.461 221 255 PASS 0.01 0.0032 0.01 . . 0.0045 0.002 0.0058 . . . . . . . . 0.46086955 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 230.0 . . . 0.0041 0.0015 0.0001 0.0041 0.0015 0.0001 . 0.5872 . . . . . . . . 6.958e-04 . . . 0.0066 0.0009 0.0008 0.0002 0 0.0002 0 0 0.0061 0.0007 0.0008 0.0001 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0020 . . . 0.33 0.35 182 ENSG00000269858 . EGLN2 . . . . . . 17 0.000261635 64976 7 0.000116694 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs150973573 . . . . . . ID\x3dCOSM1393896\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . 0.001461 . . . . . 0.0072 0.0007 0.0011 0 0.0002 0 0.0002 0.0015 3.251e-05 0.0064 0.0019 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150973573 rs150973573 1 1538 10 1/0 0,222,249 +rs150973573 19 41307140 C T - RAB4B-EGLN2 44465 RAB4B-EGLN2 readthrough (NMD candidate) NR_037791.1 1 2849 0 substitution exon GRCh37 41307140 41307140 Chr19(GRCh37):g.41307140C>T 1711 1711 NR_037791.1:n.1711C>T 8 -181 5' 94.6745 X.23 0.998714 13.2834 94.6745 X.23 0.998714 13.2834 0 rs150973573 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.004500 0.000000 0.000000 0.000000 0.005800 0.000848 0.006932 0.001048 0.000000 0.000160 0.000033 0.000160 0.000000 0.001243 0.006932 233 165 36 0 3 1 20 0 8 274664 23802 34366 10108 18760 30758 125204 25228 6438 0.000007 0.000084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 231 163 36 0 3 1 20 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4386 12983 1 18 19 0.000116306 0.00408719 0.00146131 0.000116306 0.00408719 0.00146131 51 COSM1393896 Large intestine 0.000448 2231 transition C T C>T 0.874 -0.602 255 PASS 0.01 0.0032 0.01 . . 0.0045 0.002 0.0058 . . . . . . . . 0.46086955 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 230.0 . . . 0.0041 0.0015 0.0001 0.0041 0.0015 0.0001 . 0.5872 . . . . . . . . 6.958e-04 . . . 0.0066 0.0009 0.0008 0.0002 0 0.0002 0 0 0.0061 0.0007 0.0008 0.0001 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0020 . . . 0.33 0.35 182 ENSG00000269858 . EGLN2 . . . . . . 17 0.000261635 64976 7 0.000116694 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs150973573 . . . . . . ID\x3dCOSM1393896\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . 0.001461 . . . . . 0.0072 0.0007 0.0011 0 0.0002 0 0.0002 0.0015 3.251e-05 0.0064 0.0019 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150973573 rs150973573 1 1538 10 1/0 0,222,249 +rs763408129 (chr19:41331956 G/A) 19 41331956 G A No Alamut gene - other known genes: CYP2F1P CYP2F1P +rs116333747 19 41382544 G A - CYP2A7 2611 Cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764.2 -1 2281 1485 NP_000755.2 P20853 substitution synonymous exon GRCh37 41382544 41382544 Chr19(GRCh37):g.41382544G>A 1191 1191 NM_000764.2:c.1191C>T p.Ser397= p.Ser397Ser 8 608054 30 3' 85.1843 8.07634 0.970865 X.76 85.1843 8.07634 0.970865 X.16 0 Cytochrome P450 Cytochrome P450, E-class, group I Cytochrome P450, E-class, group I, CYP2A-like Cytochrome P450, E-class, group I, CYP2B-like rs116333747 yes no Frequency/1000G 2 0.000000 0 0.005791 0.014400 0.006100 0.000000 0.004000 0.000000 0.005560 0.009361 0.002706 0.000000 0.000212 0.007542 0.006963 0.002446 0.006520 0.009361 1538 224 93 0 4 232 880 63 42 276602 23928 34362 10122 18850 30760 126378 25760 6442 0.000296 0.000167 0.000175 0.000000 0.000000 0.000520 0.000364 0.000155 0.000931 41 2 3 0 0 8 23 2 3 1456 220 87 0 4 216 834 59 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8545 4360 12905 55 46 101 0.00639535 0.0104403 0.00776565 0.00639535 0.0104403 0.00776565 103 transition C T C>T 0.992 -0.037 S Ser TCC 0.220 S Ser TCT 0.185 397 255 PASS 0.02 0.0046 . . 0.0026 0.014 0.0058 . . 0.004 0.0061 . . . . . 0.48701298 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . 0.01 0.0078 0.0064 0.01 0.0078 0.0064 . 0.1780 . . . . . . . . 6.593e-03 . . . 0.0128 0.0060 0.0023 0.0005 0.0016 0.0059 0.0042 0.0077 0.0125 0.0067 0.0024 0.0006 0.0018 0.0077 0.0072 0.0077 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0058 . . . 0.13 0.31 182 ENSG00000198077 CYP2A7 CYP2A7 . . . . . . 375 0.00577136 64976 352 0.00586804 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116333747 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.007766 . . . . . 0.0095 0.0055 0.0027 0 0.0002 0.0023 0.0071 0.0066 0.0075 0.0092 0.0060 0.0024 0 0 0.0032 0.0057 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs116333747 rs116333747 1 1538 10 1/0 0,242,255 +rs768281033 19 41397873 C A - CYP2G1P 2633 Cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene NR_040249.1 1 2511 0 substitution exon GRCh37 41397873 41397873 Chr19(GRCh37):g.41397873C>A 1143 1143 NR_040249.1:n.1143C>A 1 601133 -185 5' 81.1016 8.60125 0.903955 2.37695 81.1016 8.60125 0.903955 2.37695 0 rs768281033 yes no Frequency 1 A 0.000000 0 0.000119 0.000363 0.000000 0.000000 0.000000 0.000000 0.000055 0.000000 0.000000 0.000363 4 3 0 0 0 0 1 0 0 33598 8258 874 416 1520 72 18066 3384 1008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.440 190 PASS . . . . . . . . . . . . . . . . 0.13533835 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctA|L381|CYP2G1P|Non-coding_transcript|NON_CODING|NR_040249|NR_040249.ex.1) . . . . . . . -0.5443 . . . . . . . . 7.634e-03 . . . 0.0667 0.0583 0.0556 0.0833 . 0.0530 0 0.0690 0.0588 0.0614 0.0909 0 . 0 . 0.06 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000130612 CYP2G1P CYP2G1P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs768281033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 . 0.0003 0 0 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs775995839 19 41397874 T C - CYP2G1P 2633 Cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene NR_040249.1 1 2511 0 substitution exon GRCh37 41397874 41397874 Chr19(GRCh37):g.41397874T>C 1144 1144 NR_040249.1:n.1144T>C 1 601133 -184 5' 81.1016 8.60125 0.903955 2.37695 81.1016 8.60125 0.903955 2.37695 0 rs775995839 yes no Frequency 1 0.000000 0 0.000120 0.000365 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 0.000365 4 3 0 0 0 0 1 0 0 33302 8212 866 418 1532 70 17822 3378 1004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.247 199 PASS . . . . . . . . . . . . . . . . 0.15652174 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 115.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L382|CYP2G1P|Non-coding_transcript|NON_CODING|NR_040249|NR_040249.ex.1) . . . . . . . -0.5005 . . . . . . . . 7.619e-03 . . . 0.0723 0.0603 0.0588 0.0833 . 0.0539 0 0.0714 0.0714 0.0660 0.1 0 . 0 . 0.06 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000130612 CYP2G1P CYP2G1P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs775995839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 . 0.0003 0 0 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 19 41533221 GGCGCAGCACCGA G - CYP2A7P1 2612 Cytochrome P450 family 2 subfamily A member 7 pseudogene 1 ENST00000595391.1 -1 815 0 deletion intron GRCh37 41533222 41533233 Chr19(GRCh37):g.41533222_41533233del 179-69 179-58 ENST00000595391.1:n.179-69_179-58del p.? p.? 2 1 -58 3' 0 0.646161 0.003685 0 0 0.646161 0.003685 0 0 rs564927115 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.002038 0.000230 0.000000 0.000000 0.000000 0.000000 0.003136 0.003148 0.003061 0.003148 63 2 0 0 0 0 47 11 3 30916 8702 838 302 1614 0 14986 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 2 0 0 0 0 47 11 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes TCGGTGCTGCGC 255 Pass . . . . . . 0.0008 . . 0.004 . . . . . . 0.43269232 . . . 90 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 208 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . . . . . . . . ENSG00000213908 CYP2A7 . . . dist\x3d8921\x3bdist\x3d61123 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . rs564927115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0020 0 0 0 0.0031 0.0031 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,36 +rs751187720 19 41631592 C T - CYP2F1 2632 Cytochrome P450 family 2 subfamily F member 1 NM_000774.4 1 1847 1476 NP_000765.2 P24903 substitution intron GRCh37 41631592 41631592 Chr19(GRCh37):g.41631592C>T 1294+53 1294+53 NM_000774.4:c.1294+53C>T p.? p.? 9 9 124070 53 5' 82.1078 8.29716 0.883757 2.89679 82.1078 8.29716 0.883757 II.69 0 rs751187720 yes no Frequency 1 T 0.000000 0 0.000022 0.000127 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000127 6 3 0 0 0 0 3 0 0 275718 23600 34402 10130 18848 30770 125840 25706 6422 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.861 221 PASS . . . . . . . . . . . ENSG00000197446:ENST00000534009:exon2:c.C384T:p.H128H . . . . 0.21513945 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 251.0 . . INTRON(MODIFIER||||CYP2F1|mRNA|CODING|NM_000774|) . . . . . . . -0.6166 . . . . . . . . 4.735e-05 . . . 0 1.102e-05 8.649e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV . . . . . exonic UTR3 intronic . . . @ . . . 0.4 0.17 182 ENSG00000197446 CYP2F1 CYP2F1 . uc010xvv.1:c.*912C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs751187720 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv2492 . . . . . . 0 0 0 0 0 0 0 0 0 0.0004 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs75607786 rs75607786 1 1538 10 1/0 0,197,255 +. 19 42560915 A T - GRIK5 4583 Glutamate receptor, ionotropic, kainate 5 NM_001301030.1 -1 3320 2946 NP_001287959.1 substitution missense exon GRCh37 42560915 42560915 Chr19(GRCh37):g.42560915A>T 802 802 NM_001301030.1:c.802T>A p.Ser268Thr p.Ser268Thr 7 600283 61 3' 86.297 8.31083 0.900956 0 86.297 8.31083 0.900956 0 0 transversion T A T>A 1.000 4.564 S Ser TCC 0.220 T Thr ACC 0.361 268 12 12 Zebrafish 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C55 0.00 57.75 Deleterious 0 III.87 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.644 . @ . . . . . 1 0.742 . . 150.0 . . . . . . . . . . 0.6919 0.677 0.692 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.806 . . exonic exonic exonic . . 0.643 @ . . . . . . ENSG00000105737 GRIK5 GRIK5 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.783 0.106 . . 37 . 0.864 . . 0.877 . . . 0.488 0.441 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.486 . . 0.657 . . . . . . 0 0.654 . . . . . 0.629 . 0.749 . HET 0.01 . . . . . . . . . . . . . 13.8645 . . IV.93 IV.93 . 0.010000 Q16478 . . . . . 0.950 . . IV.93 . . . . . . . . . . . . . . . . . . . 0.730 . 1.978 1.978000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.924 . 0.643 1.978 1.062 . . . . . 1 1538 10 1/0 0,235,255 +rs139892484 19 42777603 G A - CIC 14214 Capicua transcriptional repressor NM_001304815.1 1 8227 7554 NP_001291744.1 substitution synonymous exon GRCh37 42777603 42777603 Chr19(GRCh37):g.42777603G>A 1668 1668 NM_001304815.1:c.1668G>A p.Thr556= p.Thr556Thr 2 612082 -1127 5' 94.6711 X.63 0.992439 0 94.6711 X.63 0.992439 8.47725 0 rs139892484 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000000 0.000000 0.000000 0.014900 0.013000 0.005631 0.000806 0.005981 0.029605 0.000000 0.000000 0.009410 0.001720 0.006135 0.029605 174 7 5 9 0 0 141 6 6 30900 8690 836 304 1620 0 14984 3488 978 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 1 0 0 0 0 0 1 0 0 172 7 5 9 0 0 139 6 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.961 -0.360 T Thr ACG 0.116 T Thr ACA 0.280 556 255 PASS . 0.01 0.01 . 0.01 . 0.0048 0.013 . 0.015 . ENSG00000079432:ENST00000572681:exon2:c.G1668A:p.T556T . CIC:NM_001304815:exon2:c.G1668A:p.T556T . . 0.4587156 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 218.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T556|CIC|mRNA|CODING|NM_001304815|NM_001304815.ex.2) . . . . . . . 0.5375 . . . . . . . . 5.778e-04 . . . 0 0 . 0 . 0 . . 0 0 . . . 0 . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.0048 . . . 0.51 0.36 182 ENSG00000079432 . CIC . dist\x3d1012\x3bdist\x3d11214 . . . . 598 0.0092034 64976 574 0.0095689 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139892484 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 0 0 0 0 . 0.0008 0.0056 0.0060 0.0298 0 0.0017 0.0094 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139892484 rs139892484 1 1538 10 1/0 0,224,250 +rs759275421 19 42861036 G A - MEGF8 3233 Multiple EGF-like-domains 8 NM_001271938.1 1 11167 8538 NP_001258867.1 Q7Z7M0 substitution missense exon GRCh37 42861036 42861036 Chr19(GRCh37):g.42861036G>A 4733 4733 NM_001271938.1:c.4733G>A p.Arg1578His p.Arg1578His 27 604267 -98 5' 89.5524 9.59704 0.977354 10.1788 89.5524 9.59704 0.977354 10.1788 0 rs759275421 yes no Frequency 1 G 0.000000 0 0.000135 0.000000 0.000031 0.000516 0.000000 0.000071 0.000228 0.000000 0.000000 0.000516 35 0 1 5 0 2 27 0 0 259312 22092 32770 9682 17988 28076 118380 24182 6142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 0 1 5 0 2 27 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 1.000 2.627 R Arg CGT 0.082 H His CAT 0.413 1578 11 8 Cow 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Deleterious 0.02 III.49 255 PASS . . . . . . . . . . . . . . . . 0.43055555 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.489 . @ . . . . . 1 0.911 . . 72.0 . . . . . . . . . . 0.3134 0.354 0.313 c . . . . . 1.109e-04 . . . 0 0.0002 0 0 0 0.0003 0 0.0002 0 0.0002 0 0 0 0.0002 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.658 . . exonic exonic exonic . . 0.691 @ . . . . . . ENSG00000105429 MEGF8 MEGF8 . . . 0.928 0.269 . 24 0.000369367 64976 24 0.000400093 59986 Uncertain_significance . 0 . 0.629 . . . . D 0.666 0.056 . . 37 . 0.701 . . 0.731 . . . 0.031 0.537 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.659 . . 0 0 0 0 0 0 . 0.899 . . 0.797 . . . . . . 0 0.654 . . . . . 0.803 . 0.339 . HET 0.01 rs759275421 . . . . . . . . . . . . 16.0362 . . 5.XI 5.XI . 0.010000 . . . . . . 0.346 . . 5.XI 0 0.0001 3.132e-05 0.0005 0 0 0.0002 0 7.124e-05 0 6.47e-05 0 0 0 0 0.0001 0 . . 0.609 . 2.400 2.400000 . . 0.010000 . . 1.0E-255 0.998 0.411 . 0.294 0.980 . 0.496 . 0.713 2.400 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs17420655 19 43372932 C T - PSG1 9514 Pregnancy specific beta-1-glycoprotein 1 NM_001297773.1 -1 1882 1287 NP_001284702.1 substitution missense exon GRCh37 43372932 43372932 Chr19(GRCh37):g.43372932C>T 964 964 NM_001297773.1:c.964G>A p.Asp322Asn p.Asp322Asn 4 176390 -25 5' 69.9804 7.00037 0.463762 9.40928 69.9804 7.00037 0.463762 8.46071 0 rs17420655 yes no Frequency 1 0.000000 0 0.000948 0.009546 0.000183 0.000131 0.000000 0.000084 0.000069 0.000000 0.000170 0.009546 239 221 6 1 0 2 8 0 1 252072 23152 32856 7652 18616 23896 116300 23706 5894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 239 221 6 1 0 2 8 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4423722|COSM4423722 Prostate|Liver 0.001134|0.000422 1764|2371 transition G A G>A 0.520 0.286 D Asp GAC 0.539 N Asn AAC 0.536 322 12 7 Pig 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 154.10 0.00 Tolerated 0.54 II.44 192 PASS . . . . . . . . . . . . . . . . 0.13872832 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.007 . . 173.0 . . . . . . . . . . -0.9097 -0.994 -0.910 c . . . . . 1.780e-03 . . . 0.0214 0.0027 0.0006 0 0 0.0001 0.0016 0.0003 0.0215 0.0020 0.0006 0 0 3.892e-05 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.107 . . exonic exonic exonic . . 0.171 @ . . . 0.21 0.21 182 ENSG00000231924 PSG1 PSG1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.151 . . 0.478 . . . 0.556 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.716 . . 0 0 0 0 0 0 . 0.174 . . 0.315 . . . . . . 0 0.440 . . . . . 0.111 . 0.155 . LowAF 0.03 rs17420655 . . . . . . . . . . . . IV.99 0.011881 . I.79 0.676 . 0.740000 . . . . . . 0.246 . . . 0.0087 0.0006 0.0002 0.0001 0 0 5.912e-05 0.0002 8.37e-05 0.0110 0.0031 0 0 0 0 0.0001 0 . . 0.133 . 0.080 0.080000 . . 0.740000 . . 9.999999999999999E-193 0.859 0.304 . 0.145 0.187 . 0.202 . 0.057 0.080 0.666 . rs1071709 rs1071709 . . 1 1538 10 1/0 0,206,255 +rs71339505 19 43863300 A G - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863300 43863300 Chr19(GRCh37):g.43863300A>G 620-1117 620-1117 NM_020406.3:c.620-1117A>G p.? p.? 6 5 162860 -1117 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 Cryptic Acceptor Strongly Activated 43863300 3.40454 0.046925 73.2597 4.68951 0.174318 77.1706 CD59 antigen rs71339505 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.844 243 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.A620G:p.D207G . . . . 0.2826087 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.3781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.24 0.12 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 rs71339505 . . . . . . . . . . . . V.53 . ENST00000378009 1.III -1.02 . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.811 -0.811000 . . . . . 1.0E-243 . . . . . . . . . -0.811 . . . rs71339505 rs71339505 rs201674626 1 1538 10 1/0 0,245,255 +rs71339506 19 43863343 T C - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863343 43863343 Chr19(GRCh37):g.43863343T>C 620-1074 620-1074 NM_020406.3:c.620-1074T>C p.? p.? 6 5 162860 -1074 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs71339506 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.004 -0.279 255 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.T663C:p.N221N . . . . 0.33858266 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -0.2613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.26 0.12 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs71339506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71339506 rs71339506 rs200381730 1 1538 10 1/0 0,235,255 +rs763876933 19 43863351 A G - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863351 43863351 Chr19(GRCh37):g.43863351A>G 620-1066 620-1066 NM_020406.3:c.620-1066A>G p.? p.? 6 5 162860 -1066 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs763876933 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.440 247 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.A671G:p.E224G . . . . 0.2962963 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.4588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.26 0.07 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs763876933 . . . . . . . . . . . . IV.76 . ENST00000378009 1.III 0.228 . 0.370000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.391 -0.391000 . . 0.370000 . . 1.0E-247 . . . . . . . . . -0.391 . . . rs71339507 rs71339507 rs71339507 1 1538 10 1/0 0,230,255 +rs751431292 19 43863357 A G - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863357 43863357 Chr19(GRCh37):g.43863357A>G 620-1060 620-1060 NM_020406.3:c.620-1060A>G p.? p.? 6 5 162860 -1060 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs751431292 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.360 243 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.A677G:p.E226G . . . . 0.2835821 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.0097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.25 0.07 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs751431292 . . . . . . . . . . . . IV.91 . ENST00000378009 1.III -0.0467 . 0.050000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.353 -0.353000 . . 0.050000 . . 1.0E-243 . . . . . . . . . -0.353 . . . rs71339508 rs71339508 rs71339508 1 1538 10 1/0 0,229,255 +rs62113740 19 43863359 C A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863359 43863359 Chr19(GRCh37):g.43863359C>A 620-1058 620-1058 NM_020406.3:c.620-1058C>A p.? p.? 6 5 162860 -1058 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs62113740 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -0.924 255 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.C679A:p.R227S . . . . 0.70454544 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.1301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.23 0.13 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs62113740 . . . . . . . . . . . . II.87 . ENST00000378009 1.III -0.935 . 0.050000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.946 -0.946000 . . 0.050000 . . 1.0E-255 . . . . . . . . . -0.946 . . rs62113740 rs62113740 rs62113740 rs62113740 1 1538 10 1/0 0,243,238 +rs767518097 19 43863362 G A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863362 43863362 Chr19(GRCh37):g.43863362G>A 620-1055 620-1055 NM_020406.3:c.620-1055G>A p.? p.? 6 5 162860 -1055 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs767518097 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -2.297 238 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.G682A:p.G228S . . . . 0.26618704 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.7274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.24 0.12 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs767518097 . . . . . . . . . . . . 5.1791 . ENST00000378009 1.III -2.6 . 0.610000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.494 -2.494000 . . 0.610000 . . 1.0E-238 . . . . . . . . . -2.494 . . . rs71339509 rs71339509 rs71339509 1 1538 10 1/0 0,226,255 +. 19 43863379 ATGTGT A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 deletion intron GRCh37 43863381 43863385 Chr19(GRCh37):g.43863381_43863385del 620-1036 620-1032 NM_020406.3:c.620-1036_620-1032del p.? p.? 6 5 162860 -1032 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs201507195 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes GTGTT 255 Pass . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.700_704del:p.C234fs . . . . 0.31333333 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 150 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201507195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201507195 rs201507195 1 1538 10 1.I 0,11,50 +rs749851256 19 43863393 A G - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863393 43863393 Chr19(GRCh37):g.43863393A>G 620-1024 620-1024 NM_020406.3:c.620-1024A>G p.? p.? 6 5 162860 -1024 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs749851256 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.360 250 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.A713G:p.D238G . . . . 0.30496454 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 141.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -0.9802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs749851256 . . . . . . . . . . . . IV.68 . ENST00000378009 1.III 0.218 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.362 -0.362000 . . 0.000000 . . 1.0E-250 . . . . . . . . . -0.362 . . . . . . 1 1538 10 1/0 0,229,255 +rs755694960 19 43863395 T C - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863395 43863395 Chr19(GRCh37):g.43863395T>C 620-1022 620-1022 NM_020406.3:c.620-1022T>C p.? p.? 6 5 162860 -1022 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs755694960 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -0.360 254 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.T715C:p.W239R . . . . 0.31690142 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.2947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs755694960 . . . . . . . . . . . . IV.07 . ENST00000378009 1.III 0.215 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.325 -0.325000 . . 0.000000 . . 1.0000000000000001E-254 . . . . . . . . . -0.325 . . . . . . 1 1538 10 1/0 0,229,255 +rs779782208 19 43863396 G A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863396 43863396 Chr19(GRCh37):g.43863396G>A 620-1021 620-1021 NM_020406.3:c.620-1021G>A p.? p.? 6 5 162860 -1021 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs779782208 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.732 242 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.G716A:p.W239X . . . . 0.27891156 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.7307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs779782208 . . . . . . . . . . . . 7.0315 . ENST00000378009 1.III -2.6 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.704 -1.704000 . . 1.000000 . . 1.0E-242 . . . . . . . . . -1.704 . . . . . . 1 1538 10 1/0 0,225,255 +rs62113741 19 43863419 G A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863419 43863419 Chr19(GRCh37):g.43863419G>A 620-998 620-998 NM_020406.3:c.620-998G>A p.? p.? 6 5 162860 -998 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 Cryptic Donor Strongly Activated 43863416 0.005846 59.0228 3.1239 0.075815 63.3851 rs62113741 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.6865672 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.1504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing intronic intronic . . . @ . . . 0.33 0.1 182 ENSG00000204936 CD177 CD177 ENST00000378009:exon6:c.738+1G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.97 rs62113741 . . . . . . . . . . . . 0.4754 . ENST00000378009 1.III -1.27 . . . 0.0001 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.774 -0.774000 . . . . . 1.0E-255 . . . . . . . . . -0.774 . . rs62113741 rs62113741 rs62113741 rs200939512 1 1538 10 1/0 0,254,254 +rs587670082 (chr19:43865320 C/A) 19 43865320 C A Transcript NM_020406.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) CD177 +rs201821720 (chr19:43865321 T/A) 19 43865321 T A Transcript NM_020406.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) CD177 +rs200145410 (chr19:43865324 A/G) 19 43865324 A G Transcript NM_020406.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) CD177 +rs17856828 19 43877760 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution exon GRCh37 43877760 43877760 Chr19(GRCh37):g.43877760T>C 411 411 ENST00000606252.1:n.411A>G 4 30 3' 82.8559 X.51 0.90654 7.81379 82.8559 X.51 0.90654 8.03814 0 rs17856828 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18768 4196 570 144 1114 0 9476 2644 624 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition A G A>G 0.713 0.609 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.49 0.75 182 ENSG00000204933 . . . dist\x3d10280\x3bdist\x3d15003 dist\x3d10436\x3bdist\x3d15003 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs17856828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs17856828 rs17856828 rs17856828 rs17856828 1 1538 10 1/0 0,255,255 +rs879037047 19 43877763 A T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution exon GRCh37 43877763 43877763 Chr19(GRCh37):g.43877763A>T 408 408 ENST00000606252.1:n.408T>A 4 27 3' 82.8559 X.51 0.90654 7.81379 82.8559 X.51 0.90654 8.36127 0 rs879037047 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23442 6396 666 192 1164 0 11274 3010 740 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 33 Genomes transversion T A T>A 0.681 0.448 255 PASS . . . . . . . . . . . . . . . . 0.43 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d10283\x3bdist\x3d15000 dist\x3d10439\x3bdist\x3d15000 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.48 . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879161856 19 43877764 G T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution exon GRCh37 43877764 43877764 Chr19(GRCh37):g.43877764G>T 407 407 ENST00000606252.1:n.407C>A 4 26 3' 82.8559 X.51 0.90654 7.81379 82.8559 X.51 0.90654 7.81984 0 rs879161856 no no 0 G 0.000000 0 transversion C A C>A 0.189 0.609 255 PASS . . . . . . . . . . . . . . . . 0.44117647 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.3886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d10284\x3bdist\x3d14999 dist\x3d10440\x3bdist\x3d14999 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs763691115 19 43879665 C T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879665 43879665 Chr19(GRCh37):g.43879665C>T 241-998 241-998 ENST00000606252.1:n.241-998G>A p.? p.? 3 2 -998 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 Cryptic Donor Strongly Activated 43879668 0.005846 59.0228 3.1239 0.075815 63.3851 rs763691115 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.5979381 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.3 0.16 182 ENSG00000204933 . . . dist\x3d12185\x3bdist\x3d13098 dist\x3d12341\x3bdist\x3d13098 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.97 rs763691115 . . . . . . . . . . . . II.92 . ENST00000378007 0.955 -0.278 . 0.960000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.600 -0.600000 . . 0.960000 . . 1.0E-255 . . . . . . . . . -0.600 . . rs62113741 rs62113741 rs62113741 rs62113741 1 1538 10 1/0 0,255,255 +rs773993732 19 43879688 C T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879688 43879688 Chr19(GRCh37):g.43879688C>T 241-1021 241-1021 ENST00000606252.1:n.241-1021G>A p.? p.? 3 2 -1021 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs773993732 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.037 240 PASS . . . . . . . . . . . . . . . . 0.27433628 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d12208\x3bdist\x3d13075 dist\x3d12364\x3bdist\x3d13075 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs773993732 . . . . . . . . . . . . III.68 . ENST00000378007 0.955 -0.149 . 1.000000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -0.011 -0.011000 . . 1.000000 . . 1.0E-240 . . . . . . . . . -0.011 . . . . . . 1 1538 10 1/0 0,237,255 +rs761516352 19 43879689 A G - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879689 43879689 Chr19(GRCh37):g.43879689A>G 241-1022 241-1022 ENST00000606252.1:n.241-1022T>C p.? p.? 3 2 -1022 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs761516352 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -2.135 250 PASS . . . . . . . . . . . . . . . . 0.30555555 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 108.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.5924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d12209\x3bdist\x3d13074 dist\x3d12365\x3bdist\x3d13074 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs761516352 . . . . . . . . . . . . II.54 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -2.364 -2.364000 . . 0.000000 . . 1.0E-250 . . . . . . . . . -2.364 . . . . . . 1 1538 10 1/0 0,242,255 +rs767852639 19 43879691 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879691 43879691 Chr19(GRCh37):g.43879691T>C 241-1024 241-1024 ENST00000606252.1:n.241-1024A>G p.? p.? 3 2 -1024 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs767852639 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -2.619 246 PASS . . . . . . . . . . . . . . . . 0.29245284 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 106.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.5421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d12211\x3bdist\x3d13072 dist\x3d12367\x3bdist\x3d13072 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs767852639 . . . . . . . . . . . . 7.1104 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -2.537 -2.537000 . . 0.000000 . . 1.0E-246 . . . . . . . . . -2.537 . . . . . . 1 1538 10 1/0 0,242,255 +. 19 43879698 GAACAC G - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 deletion intron GRCh37 43879699 43879703 Chr19(GRCh37):g.43879699_43879703del 241-1036 241-1032 ENST00000606252.1:n.241-1036_241-1032del p.? p.? 3 2 -1032 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs779634967 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes GTGTT 255 Pass . . . . . . . . . . . . . . . . 0.3148148 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 108 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . . . . . . . . ENSG00000204933 . . . dist\x3d12219\x3bdist\x3d13060 dist\x3d12375\x3bdist\x3d13060 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . rs779634967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,50 +rs750799546 19 43879722 C T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879722 43879722 Chr19(GRCh37):g.43879722C>T 241-1055 241-1055 ENST00000606252.1:n.241-1055G>A p.? p.? 3 2 -1055 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs750799546 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -2.135 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 105.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.33 0.17 182 ENSG00000204933 . . . dist\x3d12242\x3bdist\x3d13041 dist\x3d12398\x3bdist\x3d13041 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs750799546 . . . . . . . . . . . . 3.0898 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.241 -2.241000 . . 0.000000 . . 1.0000000000000001E-244 . . . . . . . . . -2.241 . . . rs71339509 rs71339509 rs71339509 1 1538 10 1/0 0,242,255 +rs201729747 19 43879725 G T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879725 43879725 Chr19(GRCh37):g.43879725G>T 241-1058 241-1058 ENST00000606252.1:n.241-1058C>A p.? p.? 3 2 -1058 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs201729747 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -2.700 255 PASS . . . . . . . . . . . . . . . . 0.65789473 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 114.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.6045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.32 0.17 182 ENSG00000204933 . . . dist\x3d12245\x3bdist\x3d13038 dist\x3d12401\x3bdist\x3d13038 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs201729747 . . . . . . . . . . . . III.13 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.692 -2.692000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -2.692 . . rs62113740 rs62113740 rs62113740 rs201729747 1 1538 10 1/0 0,255,255 +rs766823715 19 43879727 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879727 43879727 Chr19(GRCh37):g.43879727T>C 241-1060 241-1060 ENST00000606252.1:n.241-1060A>G p.? p.? 3 2 -1060 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs766823715 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.521 250 PASS . . . . . . . . . . . . . . . . 0.3063063 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 111.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.3666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.32 0.17 182 ENSG00000204933 . . . dist\x3d12247\x3bdist\x3d13036 dist\x3d12403\x3bdist\x3d13036 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs766823715 . . . . . . . . . . . . V.25 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.492 -0.492000 . . 0.000000 . . 1.0E-250 . . . . . . . . . -0.492 . . . rs71339508 rs71339508 rs71339508 1 1538 10 1/0 0,241,255 +rs753905441 19 43879733 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879733 43879733 Chr19(GRCh37):g.43879733T>C 241-1066 241-1066 ENST00000606252.1:n.241-1066A>G p.? p.? 3 2 -1066 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs753905441 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.020 0.690 248 PASS . . . . . . . . . . . . . . . . 0.2982456 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 114.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.3 0.16 182 ENSG00000204933 . . . dist\x3d12253\x3bdist\x3d13030 dist\x3d12409\x3bdist\x3d13030 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs753905441 . . . . . . . . . . . . IV.13 . ENST00000378007 0.955 0.955 . 0.020000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.670 0.670000 . . 0.020000 . . 1.0E-248 . . . . . . . . . 0.670 . . . rs71339507 rs71339507 rs71339507 1 1538 10 1/0 0,239,255 +. 19 43879784 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879784 43879784 Chr19(GRCh37):g.43879784T>C 241-1117 241-1117 ENST00000606252.1:n.241-1117A>G p.? p.? 3 2 -1117 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 Cryptic Acceptor Strongly Activated 43879784 3.40454 0.046925 73.2597 4.68951 0.174318 77.1706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.924 253 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.26 0.12 182 ENSG00000204933 . . . dist\x3d12304\x3bdist\x3d12979 dist\x3d12460\x3bdist\x3d12979 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . V.62 . ENST00000378007 0.955 -1.91 . 0.320000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.939 -0.939000 . . 0.320000 . . 1.0E-253 . . . . . . . . . -0.939 . . . rs71339505 rs71339505 rs71339505 1 1538 10 1/0 0,249,255 +rs202141894 19 44514396 A G - ZNF230 13024 Zinc finger protein 230 NM_006300.3 1 4132 1425 NP_006291.2 Q9UIE0 substitution intron GRCh37 44514396 44514396 Chr19(GRCh37):g.44514396A>G 230-25 230-25 NM_006300.3:c.230-25A>G p.? p.? 5 4 -25 3' 85.9434 X.59 0.98835 9.99793 85.9434 X.59 0.98835 9.00263 0 44514396 -67.0856 rs202141894 yes no Frequency 1 A 0.000000 0 0.000787 0.000085 0.000517 0.014488 0.000000 0.000090 0.000633 0.000000 0.001294 0.014488 189 2 15 92 0 2 71 0 7 240194 23616 29006 6350 18136 22170 112078 23430 5408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 189 2 15 92 0 2 71 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4406 12999 7 0 7 0.000813953 0 0.000538213 0.000813953 0 0.000538213 41 transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.5151515 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||ZNF230|mRNA|CODING|NM_006300|) . 0.0005 0.0008 . 0.0005 0.0008 . -0.1334 . . . . . . . . 7.583e-04 . . . 0 0.0009 0.0009 0 0 0.0015 0 0.0002 0 0.0006 0.0008 0 0 0.0008 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.14 182 ENSG00000159882 ZNF230 ZNF230 . . . . . . 39 0.000600222 64976 39 0.000650152 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202141894 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv469650 0.000538 . . . . . 0 0.0008 0.0005 0.0142 0 0 0.0006 0.0016 9.021e-05 0.0002 0.0005 0 0.02 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs202141894 rs202141894 1 1538 10 1/0 0,255,255 +rs8101750 19 44530390 T C - ZNF222 13015 Zinc finger protein 222 NM_001129996.1 1 1651 1476 NP_001123468.1 substitution intron GRCh37 44530390 44530390 Chr19(GRCh37):g.44530390T>C 42+760 42+760 NM_001129996.1:c.42+760T>C p.? p.? 1 1 617357 760 5' 71.8773 3.53307 0.292474 4.40152 71.8773 3.53307 0.292474 4.40152 0 rs8101750 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30919 8716 838 302 1622 0 14983 3480 978 30920 8716 838 302 1622 0 14984 3480 978 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15459 4358 419 151 811 0 7491 1740 489 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transition T C T>C 0.000 -2.781 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . -0.6478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.32 0.33 182 . ZNF222 ZNF222 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs8101750 0.989 0.986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs8101750 rs8101750 rs8101750 rs8101750 1 1538 255 1.I 0,0,255 +rs111731578 19 44871191 C T - ZNF112 12892 Zinc finger protein 112 NM_001348281.1 -1 3791 2793 NP_001335210.1 substitution intron GRCh37 44871191 44871191 Chr19(GRCh37):g.44871191C>T 17+50 17+50 NM_001348281.1:c.17+50G>A p.? p.? 1 1 603994 50 5' 95.6376 X.36 0.995247 9.22831 95.6376 X.36 0.995247 8.85105 0 rs111731578 yes no Frequency 1 C 0.000000 0 0.000613 0.001555 0.000083 0.000000 0.000360 0.000000 0.000678 0.002861 0.000703 0.002861 91 20 2 0 4 0 39 23 3 148542 12864 24182 8116 11120 22410 57546 8038 4266 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 91 20 2 0 4 0 39 23 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 184 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1918 . . . . . . . . 1.885e-03 . . . 0.0052 9.397e-05 0 0 . 0 0 0 0 0 0 0 . 0 0 0 . . . . . . intronic intronic intergenic . . . @ . . . 0.15 0.19 182 . ZFP112 . . . dist\x3d10335\x3bdist\x3d18617 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs111731578 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0028 0.0036 0.0030 0 0.0031 0.0083 0.0031 0.0038 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.022 . . rs78078830 rs111731578 1 1538 10 1/0 0,237,255 +rs764861801 19 44871208 C T - ZNF112 12892 Zinc finger protein 112 NM_001348281.1 -1 3791 2793 NP_001335210.1 substitution intron GRCh37 44871208 44871208 Chr19(GRCh37):g.44871208C>T 17+33 17+33 NM_001348281.1:c.17+33G>A p.? p.? 1 1 603994 33 5' 95.6376 X.36 0.995247 9.22831 95.6376 X.36 0.995247 9.09091 0 rs764861801 yes no Frequency 1 C 0.000000 0 0.000220 0.000838 0.000041 0.000000 0.000090 0.000000 0.000223 0.000734 0.000232 0.000838 33 11 1 0 1 0 13 6 1 150034 13126 24276 8134 11164 22414 58424 8178 4318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 11 1 0 1 0 13 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.004 0.528 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1179 . . . . . . . . 2.172e-04 . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . . . . . ZFP112 . . . dist\x3d10352\x3bdist\x3d18600 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs764861801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0015 0.0012 0.0014 0 0.0007 0.0021 0.0010 0.0012 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs750027308 19 44871213 G T - ZNF112 12892 Zinc finger protein 112 NM_001348281.1 -1 3791 2793 NP_001335210.1 substitution intron GRCh37 44871213 44871213 Chr19(GRCh37):g.44871213G>T 17+28 17+28 NM_001348281.1:c.17+28C>A p.? p.? 1 1 603994 28 5' 95.6376 X.36 0.995247 9.22831 95.6376 X.36 0.995247 8.94697 0 rs750027308 yes no Frequency 1 G 0.000000 0 0.000139 0.000588 0.000041 0.000000 0.000089 0.000000 0.000136 0.000362 0.000000 0.000588 21 8 1 0 1 0 8 3 0 151370 13594 24346 8154 11284 22426 58916 8288 4362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 8 1 0 1 0 8 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.328 177 PASS . . . . . . . . . . . . . . . . 0.10752688 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3379 . . . . . . . . 1.630e-04 . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . . . . . ZFP112 . . . dist\x3d10357\x3bdist\x3d18595 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs750027308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0010 0.0008 0.0014 0 0.0007 0.0010 0.0006 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +rs761120171 19 45316530 C T - BCAM 6722 Basal cell adhesion molecule (Lutheran blood group) NM_005581.4 1 2453 1887 NP_005572.2 P50895 substitution synonymous exon GRCh37 45316530 45316530 Chr19(GRCh37):g.45316530C>T 528 528 NM_005581.4:c.528C>T p.Asn176= p.Asn176Asn 5 612773 24 3' 78.0721 10.1253 0.953453 VIII.55 78.0721 10.1253 0.953453 8.02312 0 CD80-like, immunoglobulin C2-set Immunoglobulin-like rs761120171 yes no Frequency 1 C 0.000000 0 0.000021 0.000000 0.000089 0.000000 0.000000 0.000000 0.000009 0.000000 0.000184 0.000089 5 0 3 0 0 0 1 0 1 243336 14878 33540 9790 17186 30754 109458 22288 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 3 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 72 Exomes transition C T C>T 0.047 -2.458 N Asn AAC 0.536 N Asn AAT 0.464 176 255 PASS . . . . . . . . . . . . . . . . 0.43925235 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.3096 . . . . . . . . 1.579e-05 . . . 0 1.153e-05 0 0 0 2.536e-05 0 0 0 1.929e-05 0 0.0001 0 1.892e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000187244 BCAM BCAM . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs761120171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.055e-05 8.945e-05 0 0 0 9.136e-06 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs267606661 19 45412358 C G - APOE 613 Apolipoprotein E NM_001302688.1 1 1297 1032 NP_001289617.1 substitution missense exon GRCh37 45412358 45412358 Chr19(GRCh37):g.45412358C>G 883 883 NM_001302688.1:c.883C>G p.Arg295Gly p.Arg295Gly 4 107741 569 3' 81.6489 X.61 0.891145 9.64515 81.6489 X.61 0.891145 9.64515 0 rs267606661 yes no Frequency 1 C pathogenic 0.000000 0 0.000363 0.000000 0.000714 0.000217 0.000000 0.000036 0.000483 0.000200 0.000894 0.000714 82 0 22 2 0 1 49 3 5 225982 19784 30798 9234 16472 27666 101412 15024 5592 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 82 0 22 2 0 1 49 3 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes CM973676 Hyperlipoproteinaemia 9279208 DM transversion C G C>G 0.961 0.932 R Arg CGC 0.190 G Gly GGC 0.342 295 11 9 Platypus -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0 III.56 255 PASS . . . . . . . . . . . ENSG00000130203:ENST00000252486:exon4:c.C805G:p.R269G APOE:uc002pab.3:exon4:c.C805G:p.R269G . . . 0.50406504 . . germline 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.710 . Pathogenic Pathogenic RCV000019455.28 Familial_type_3_hyperlipoproteinemia MedGen:Orphanet:SNOMED_CT C0020479:ORPHA412:398796005 1 0.515 . . 123.0 . . . . . . . . . . -0.3425 -0.441 -0.342 c . . . . . 2.080e-04 . . . 0 0.0005 0.0005 0 0 0.0009 0 0.0001 0 0.0004 0.0005 0 0 0.0007 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.760 . . exonic exonic exonic . . 0.226 @ . . . 0.24 0.36 182 ENSG00000130203 APOE APOE . . . 0.596 0.217 . 16 0.000246245 64976 16 0.000266729 59986 Uncertain_significance . 0 . 0.238 . . . . D 0.887 0.241 . . 37 . 0.734 . . 0.706 . . . 0.640 0.381 . . . . 0 1 0 0 0 0 0 1 0 0 1 0.611 . . 0 0 0 0 1 0 . 0.362 . . 0.433 . . . . . . 0 0.682 . . . . . 0.224 . 0.779 . HET 0.01 rs267606661 . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dFamilial_type_3_hyperlipoproteinemia\x3bCLNACC\x3dRCV000019455.1 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dFamilial_type_3_hyperlipoproteinemia\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000019455.26\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0020479:398796005 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dFamilial_type_3_hyperlipoproteinemia\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000019455.26\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0020479:398796005 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dFamilial_type_3_hyperlipoproteinemia\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000019455.26\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0020479:398796005 . . . . . . 6.719 . ENST00000252486 3.VIII I.61 . 0.070000 P02649 . . . . . 0.289 . . . 0 0.0004 0.0007 0.0002 0 0.0002 0.0005 0.0011 3.615e-05 0 0.0002 0.0012 0 0 0.0003 0.0002 0 . . 0.408 . 0.250 0.250000 . . 0.070000 . . 1.0E-255 0.956 0.331 . 0.241 0.777 . 0.330 . 0.127 0.250 -0.006 . . . rs267606661 . 1 1538 10 1/0 0,250,255 +rs4803794 (chr19:45561063 A/G) 19 45561063 A G Transcript NM_007056.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) CLASRP +rs201502372 19 45683032 G T - BLOC1S3 20914 Biogenesis of lysosomal organelles complex 1 subunit 3 NM_212550.4 1 2601 609 NP_997715.1 Q6QNY0 substitution missense exon GRCh37 45683032 45683032 Chr19(GRCh37):g.45683032G>T 478 478 NM_212550.4:c.478G>T p.Val160Leu p.Val160Leu 2 609762 487 3' 76.4629 10.1318 0.990293 XII.35 76.4629 10.1318 0.990293 XII.35 0 BLOC-1 complex, subunit 3 rs201502372 yes no Frequency/1000G 2 G uncertain_significance,likely_benign 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.001616 0.000676 0.001753 0.003222 0.000000 0.000208 0.002396 0.000502 0.002426 0.003222 285 9 43 25 0 5 185 7 11 176316 13306 24528 7760 11030 24018 77208 13932 4534 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000026 0.000000 0.000000 1 0 0 0 0 0 1 0 0 283 9 43 25 0 5 183 7 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000430386.1|RCV000314918.1|RCV000372519.1 germline|germline|germline clinical testing|clinical testing|clinical testing Likely benign|Likely benign|VUS 1|1|1 not provided|not specified|Hermansky-Pudlak syndrome transversion G T G>T 1.000 0.932 V Val GTG 0.468 L Leu TTG 0.127 160 12 8 Cow 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 234.99 IV.86 Tolerated 0.08 III.33 255 PASS . 0.0018 . . 0.01 . 0.0012 0.0029 . 0.004 . . . BLOC1S3:NM_212550:exon2:c.G478T:p.V160L . . 0.46153846 . . germline 42 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.358 . Likely//\@benign//\%//\@Uncertain//\@significance Likely_benign|Uncertain_significance RCV000314918.1|RCV000372519.1 not_specified|Hermansky-Pudlak_syndrome MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 1 0.258 . . 91.0 . . . . . . . . . . -0.3186 -0.226 -0.319 c . . . . . 1.216e-03 . . . 0.0010 0.0040 0.0095 0 0.0071 0.0100 0 0.0001 0.0011 0.0038 0.0066 0 0.0046 0.0083 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.270 0.0012 . . . 0.3 0.42 182 ENSG00000189114 BLOC1S3 BLOC1S3 . . . 1.000 0.747 . 135 0.00207769 64976 128 0.00213383 59986 Likely_benign . 0 . 0.308 . . . . . . . . . 37 . 0.073 . . 0.116 . . . 0.024 0.278 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.103 . . 0 0 0 0 0 0 . 0.384 . . 0.315 . . . . . . 0 0.070 . . . . . 0.106 . 0.449 . HET 0.44 rs201502372 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 IV.42 0.0 ENST00000433642 III.57 II.22 . 0.650000 Q6QNY0 . . . . . 0.301 . . II.22 0.0002 0.0017 0.0017 0.0034 0 0.0006 0.0025 0.0025 0.0002 0.0009 0.0014 0.0037 0 0 0.0003 0.0019 0.0020 . . 0.486 . 1.707 1.707000 . . 0.650000 . . 1.0E-255 1.000 0.715 . 0.552 0.998 . 0.423 . 0.378 1.707 0.609 0.01 . . rs201502372 rs201502372 1 1538 10 1/0 0,255,255 +rs201502372 19 45683032 G T - TRAPPC6A 23069 Trafficking protein particle complex 6A NM_024108.2 -1 811 522 NP_077013.1 substitution upstream GRCh37 45683032 45683032 Chr19(GRCh37):g.45683032G>T -1556 -1556 NM_024108.2:c.-1556C>A p.? p.? 1 610396 -1682 5' 81.9786 X.32 0.966479 11.191 81.9786 X.32 0.966479 11.191 0 rs201502372 yes no Frequency/1000G 2 G uncertain_significance,likely_benign 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.001616 0.000676 0.001753 0.003222 0.000000 0.000208 0.002396 0.000502 0.002426 0.003222 285 9 43 25 0 5 185 7 11 176316 13306 24528 7760 11030 24018 77208 13932 4534 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000026 0.000000 0.000000 1 0 0 0 0 0 1 0 0 283 9 43 25 0 5 183 7 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000314918.1|RCV000372519.1|RCV000430386.1 germline|germline|germline clinical testing|clinical testing|clinical testing Likely benign|VUS|Likely benign 1|1|1 not specified|Hermansky-Pudlak syndrome|not provided transversion C A C>A 1.000 0.932 255 PASS . 0.0018 . . 0.01 . 0.0012 0.0029 . 0.004 . . . BLOC1S3:NM_212550:exon2:c.G478T:p.V160L . . 0.46153846 . . germline 42 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.358 . Likely//\@benign//\%//\@Uncertain//\@significance Likely_benign|Uncertain_significance RCV000314918.1|RCV000372519.1 not_specified|Hermansky-Pudlak_syndrome MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 1 0.258 . . 91.0 . . . . . . . . . . -0.3186 -0.226 -0.319 c . . . . . 1.216e-03 . . . 0.0010 0.0040 0.0095 0 0.0071 0.0100 0 0.0001 0.0011 0.0038 0.0066 0 0.0046 0.0083 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.270 0.0012 . . . 0.3 0.42 182 ENSG00000189114 BLOC1S3 BLOC1S3 . . . 1.000 0.747 . 135 0.00207769 64976 128 0.00213383 59986 Likely_benign . 0 . 0.308 . . . . . . . . . 37 . 0.073 . . 0.116 . . . 0.024 0.278 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.103 . . 0 0 0 0 0 0 . 0.384 . . 0.315 . . . . . . 0 0.070 . . . . . 0.106 . 0.449 . HET 0.44 rs201502372 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 IV.42 0.0 ENST00000433642 III.57 II.22 . 0.650000 Q6QNY0 . . . . . 0.301 . . II.22 0.0002 0.0017 0.0017 0.0034 0 0.0006 0.0025 0.0025 0.0002 0.0009 0.0014 0.0037 0 0 0.0003 0.0019 0.0020 . . 0.486 . 1.707 1.707000 . . 0.650000 . . 1.0E-255 1.000 0.715 . 0.552 0.998 . 0.423 . 0.378 1.707 0.609 0.01 . . rs201502372 rs201502372 1 1538 10 1/0 0,255,255 +rs143780706 19 46005408 G A - PPM1N 26845 Protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) NM_001080401.1 1 1718 1293 NP_001073870.1 Q8N819 substitution 3'UTR GRCh37 46005408 46005408 Chr19(GRCh37):g.46005408G>A *65 *65 NM_001080401.1:c.*65G>A p.? p.? 5 134 3' 90.3357 8.30026 0.932802 7.47923 90.3357 8.30026 0.932802 7.47923 0 rs143780706 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.001054 0.000683 0.001133 0.000000 0.000000 0.000000 0.001827 0.000082 0.000563 0.001827 241 14 27 0 0 0 195 2 3 228590 20500 23828 9042 14870 23880 106740 24400 5330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 241 14 27 0 0 0 195 2 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3177 1383 4560 5 1 6 0.00157134 0.000722543 0.00131406 0.00157134 0.000722543 0.00131406 27 transition G A G>A 0.000 -0.602 255 PASS . 0.0005 . . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.5588235 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.097 . @ . . . . . 2 0.288 . . 68.0 . . UTR_3_PRIME(MODIFIER||||PPM1N|mRNA|CODING|NM_001080401|NM_001080401.ex.5) 0.0007 0.0013 0.0016 0.0007 0.0013 0.0016 . -0.8841 -1.104 -0.884 c . . . . . 9.706e-04 . . . 0.0010 0.0014 0.0017 0 0 0.0023 0.0093 0 0.0010 0.0014 0.0018 0 0 0.0024 0.0047 0 nonsynonymous_SNV . . . . . exonic UTR3 UTR3 . . 0.044 0.0006 . . . 0.4 0.66 182 ENSG00000213889 PPM1N PPM1N . . NM_001080401:c.*65G>A 1.000 0.747 . 85 0.00130818 64976 82 0.00136699 59986 . . 0 . . . . . . T 0.002 0.001 . . 37 . 0.179 . . 0.290 . . . . 0.090 . . . . . . . . . . . . . . . 0.056 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . 0.069 . 0.012 . HET 0 rs143780706 0.011 0.007 . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 III.22 0.0 . III.22 -3.51 . 0.450000 . . . . 0.001314 . 0.037 . . . 0.0007 0.0011 0.0011 0 0 9.539e-05 0.0019 0.0005 0 0.0007 0.0009 0.0012 0 0 0 0.0013 0.0010 . . 0.439 . -0.561 -0.561000 . . 0.450000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.054 . 0.121 -0.561 -0.980 0.011 . . rs143780706 rs143780706 1 1538 10 1/0 0,255,255 +. 19 46287477 T G - DMPK 2933 Dystrophia myotonica-protein kinase NM_001288764.1 -1 2933 1968 NP_001275693.1 substitution upstream GRCh37 46287477 46287477 Chr19(GRCh37):g.46287477T>G -1848 -1848 NM_001288764.1:c.-1848A>C p.? p.? 1 605377 -2027 5' 83.6222 7.93332 0.987092 8.32199 83.6222 7.93332 0.987092 8.32199 0 Cryptic Acceptor Strongly Activated 46287461 3.66861 0.03184 72.8372 6.29304 0.098236 72.8372 0.000552 0.001030 0.001053 0.000179 0.000436 0.000342 0.000392 0.000707 0.000947 0.001053 112 20 21 1 6 7 39 14 4 202730 19420 19948 5596 13776 20456 99504 19804 4226 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 20 21 1 6 7 39 14 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.031 -1.651 209 PASS . . . . . . . . . . . . DMWD:uc021uwc.1:exon2:c.A935C:p.Q312P . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . . . . . . . . . 0.0423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . . . . ENSG00000185800 DMWD DMWD . . NM_004943:c.*24A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0010 0.0002 0.0005 0 0.0002 0 0.0003 0.0030 0.0029 0.0037 0 0 0.0080 0.0023 0.0062 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 19 46287477 T G - DMWD 2936 Dystrophia myotonica, WD repeat containing NM_004943.1 -1 3308 2025 NP_004934.1 Q09019 substitution 3'UTR GRCh37 46287477 46287477 Chr19(GRCh37):g.46287477T>G *24 *24 NM_004943.1:c.*24A>C p.? p.? 5 609857 72 3' 86.6397 XI.61 0.981333 13.0375 86.6397 XI.61 0.981333 13.1647 0 Cryptic Acceptor Strongly Activated 46287461 3.66861 0.03184 72.8372 6.29304 0.098236 72.8372 0.000552 0.001030 0.001053 0.000179 0.000436 0.000342 0.000392 0.000707 0.000947 0.001053 112 20 21 1 6 7 39 14 4 202730 19420 19948 5596 13776 20456 99504 19804 4226 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 20 21 1 6 7 39 14 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.031 -1.651 209 PASS . . . . . . . . . . . . DMWD:uc021uwc.1:exon2:c.A935C:p.Q312P . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . . . . . . . . . 0.0423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . . . . ENSG00000185800 DMWD DMWD . . NM_004943:c.*24A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0010 0.0002 0.0005 0 0.0002 0 0.0003 0.0030 0.0029 0.0037 0 0 0.0080 0.0023 0.0062 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 19 46393971 T G - MYPOP 20178 Myb-related transcription factor, partner of profilin NM_001012643.3 -1 1887 1200 NP_001012661.1 Q86VE0 substitution synonymous exon GRCh37 46393971 46393971 Chr19(GRCh37):g.46393971T>G 1110 1110 NM_001012643.3:c.1110A>C p.Pro370= p.Pro370Pro 3 617861 611 3' 90.3894 12.1364 0.988282 14.9236 90.3894 12.1364 0.988282 14.9236 0 0.002043 0.000193 0.005706 0.003298 0.001284 0.005739 0.001314 0.001363 0.002383 0.005739 210 2 41 10 9 60 66 17 5 102814 10348 7186 3032 7010 10454 50216 12470 2098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 210 2 41 10 9 60 66 17 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3748059|COSM3748059 Central nervous system|Breast 0.000416|0.000408 2405|2453 transversion A C A>C 0.079 -0.117 P Pro CCA 0.274 P Pro CCC 0.328 370 187 PASS . . . . . . . . . . . ENSG00000176182:ENST00000322217:exon3:c.A1110C:p.P370P MYPOP:uc002pdt.3:exon3:c.A1110C:p.P370P MYPOP:NM_001012643:exon3:c.A1110C:p.P370P . . 0.13157895 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.5350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000176182 MYPOP MYPOP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0024 0.0060 0.0035 0.0016 0.0013 0.0015 0.0024 0.0057 0 0.0003 0 0 0 0.0019 0.0001 0.0023 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs779773202 19 48306910 G T - TPRX1 32174 Tetra-peptide repeat homeobox 1 NM_198479.2 -1 1839 1236 NP_940881.2 Q8N7U7 substitution upstream GRCh37 48306910 48306910 Chr19(GRCh37):g.48306910G>T -120 -120 NM_198479.2:c.-120C>A p.? p.? 1 611166 -150 5' 74.6149 5.05587 0.214644 7.63008 74.6149 5.05587 0.214644 7.63008 0 rs779773202 yes no Frequency 1 G 0.000000 0 0.000400 0.000000 0.000342 0.000223 0.000637 0.000446 0.000572 0.000133 0.000000 0.000637 48 0 7 1 7 6 26 1 0 120144 14202 20474 4476 10984 13446 45482 7546 3534 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 0 7 1 7 6 26 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 0.125 255 PASS . . . . . . . . . . . ENSG00000178928:ENST00000535759:exon3:c.C172A:p.P58T . . . . 0.4526316 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.068 . @ . . . . . 3 0.026 . . 95.0 . . UPSTREAM(MODIFIER||||TPRX1|mRNA|CODING|NM_198479|) . . . . . . . -0.6742 -0.905 -0.674 c . . . . . 1.343e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 0 0 nonsynonymous_SNV . . 0.955 . . exonic UTR5 upstream . . 0.149 @ . . . 0.56 0.43 182 ENSG00000178928 TPRX1 TPRX1 . uc002php.2:c.-120C>A . 0.001 0.076 . . . . . . . . . 0 . . . . . . D 0.585 0.039 . . 37 . 0.921 . . 0.847 . . . . 0.090 . . . . . . . . . . . . . . . 0.399 . . . . . . 0 . . . . . . . . . . . . 0 0.316 . . . . . 0.159 . 0.003 . HET . rs779773202 . . . . . . . . . . . . V.03 . ENST00000535759 1.IV 0.284 . 0.110000 . . . . . . 0.050 . . . 0 0.0003 0.0004 0 0.0005 0 0.0003 0 0.0004 0 0.0007 0 0.0036 0.0014 0.0003 0.0013 0 . . 0.133 . 0.154 0.154000 . . 0.110000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.011 . 0.026 0.154 -0.629 . rs296397 rs296397 rs296397 rs296397 1 1538 10 1/0 0,255,255 +rs1654377 19 48613788 T G - PLA2G4C 9037 Phospholipase A2, group IVC (cytosolic, calcium-independent) NM_001159322.1 -1 2493 1656 NP_001152794.1 substitution 5'UTR GRCh37 48613788 48613788 Chr19(GRCh37):g.48613788T>G -16 -16 NM_001159322.1:c.-16A>C p.? p.? 1 603602 -45 5' 91.7934 0 0 0 91.7934 0 0 0 0 rs1654377 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.000 0.448 223 PASS . . . . . . . . . . . . . . . . 0.225 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . . . . . . . . . 0.0816 . . . . . . . . 3.245e-04 . . . 0.0056 0.0006 0.0034 0 0 0.0002 0 0.0003 0.0079 0.0007 0.0048 0 0 0 0 0.0003 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.5 0.38 182 ENSG00000105499 PLA2G4C PLA2G4C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1654377 0.163 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . 0.16 rs1654377 rs1654377 rs1654377 rs1654377 1 1538 10 1/0 0,255,255 +rs192906611 19 48620748 T C - LIG1 6598 Ligase I, DNA, ATP-dependent NM_000234.2 -1 3384 2760 NP_000225.1 P18858 substitution intron GRCh37 48620748 48620748 Chr19(GRCh37):g.48620748T>C 2583+147 2583+147 NM_000234.2:c.2583+147A>G p.? p.? 26 26 126391 147 5' 87.1266 10.0978 0.914081 XI.53 87.1266 10.0978 0.914081 XI.53 0 rs192906611 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.004000 0.002900 0.003810 0.001260 0.007160 0.023179 0.000000 0.000000 0.005863 0.000573 0.004073 0.023179 118 11 6 7 0 0 88 2 4 30972 8728 838 302 1620 0 15010 3492 982 0.008475 0.000000 0.000000 0.000000 0.000000 0.000000 0.011364 0.000000 0.000000 1 0 0 0 0 0 1 0 0 116 11 6 7 0 0 86 2 4 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition A G A>G 0.000 0.448 255 PASS . 0.0018 0.01 . 0.0026 . 0.0014 0.0029 . 0.004 0.001 . . . . . 0.6315789 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.0247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.3 0.19 182 ENSG00000105486 LIG1 LIG1 . . . . . . 358 0.00550973 64976 351 0.00585137 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192906611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0038 0.0072 0.0232 0 0.0006 0.0059 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs192906611 rs192906611 1 1538 10 1/0 0,255,255 +. 19 49002814 C G - LMTK3 19295 Lemur tyrosine kinase 3 NM_001080434.1 -1 4972 4470 NP_001073903.1 substitution synonymous exon GRCh37 49002814 49002814 Chr19(GRCh37):g.49002814C>G 1599 1599 NM_001080434.1:c.1599G>C p.Pro533= p.Pro533Pro 12 361 3' 81.1391 X.88 0.972134 13.2748 81.1391 X.88 0.972134 13.2748 0 Serine/threonine- / dual-specificity protein kinase, catalytic domain 0.000021 0.000209 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 0.000000 0.000209 2 1 0 0 0 1 0 0 0 95298 4792 15390 4560 7538 16416 32424 11644 2534 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Exomes transversion G C G>C 0.661 -1.732 P Pro CCG 0.115 P Pro CCC 0.328 533 213 PASS . . . . . . . . . . . . LMTK3:uc002pjk.3:exon12:c.G1599C:p.P533P LMTK3:NM_001080434:exon12:c.G1599C:p.P533P . . 0.19642857 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 56.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccC|P533|LMTK3|mRNA|CODING|NM_001080434|NM_001080434.ex.12) . . . . . . . 0.1490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000142235 LMTK3 LMTK3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 2.099e-05 0 0 0 0 0 0 6.092e-05 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 19 49176494 C T - NTN5 25208 Netrin 5 NM_145807.2 -1 1910 1470 NP_665806.1 Q8WTR8 substitution upstream GRCh37 49176494 49176494 Chr19(GRCh37):g.49176494C>T -326 -326 NM_145807.2:c.-326G>A p.? p.? 1 -306 5' 74.9319 5.63057 0.402121 5.51238 74.9319 5.63057 0.402121 5.51238 0 rs912121155 no no 0 C 0.000000 0 0.000016 0.000000 0.000042 0.000000 0.000101 0.000000 0.000000 0.000000 0.000000 0.000101 2 0 1 0 1 0 0 0 0 127198 6162 23668 7970 9912 22512 48116 5292 3566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 50 Exomes transition G A G>A 0.024 0.528 255 PASS . . . . . . . . . . . . . . . . 0.4888889 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 45.0 . . . . . . . . . . 0.7945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000232871 SEC1P SEC1P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.572e-05 4.225e-05 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 19 49176494 C T - SEC1P 44149 Secretory blood group 1, pseudogene NR_004401.2 1 2649 0 substitution exon GRCh37 49176494 49176494 Chr19(GRCh37):g.49176494C>T 398 398 NR_004401.2:n.398C>T 4 -31 5' 84.5905 9.78584 0.952683 9.96421 84.5905 9.78584 0.952683 9.84309 0 rs912121155 no no 0 C 0.000000 0 0.000016 0.000000 0.000042 0.000000 0.000101 0.000000 0.000000 0.000000 0.000000 0.000101 2 0 1 0 1 0 0 0 0 127198 6162 23668 7970 9912 22512 48116 5292 3566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 50 Exomes transition C T C>T 0.024 0.528 255 PASS . . . . . . . . . . . . . . . . 0.4888889 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 45.0 . . . . . . . . . . 0.7945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000232871 SEC1P SEC1P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.572e-05 4.225e-05 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs1800022 19 49206625 C T - FUT2 4013 Fucosyltransferase 2 (secretor status included) NM_000511.5 1 3099 1032 NP_000502.4 Q10981 substitution missense exon GRCh37 49206625 49206625 Chr19(GRCh37):g.49206625C>T 412 412 NM_000511.5:c.412C>T p.Arg138Cys p.Arg138Cys 2 182100 414 3' 79.6118 9.60142 0.907165 2.56105 79.6118 9.60142 0.907165 2.56105 0 Glycosyl transferase, family 11 rs1800022 yes no Frequency/1000G 2 C 0.000000 0 0.002995 0.000800 0.000000 0.000000 0.008900 0.007200 0.006176 0.001713 0.004765 0.007691 0.000053 0.000458 0.009655 0.005700 0.006665 0.009655 1707 41 164 78 1 14 1219 147 43 276400 23928 34416 10142 18854 30560 126260 25788 6452 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 6 0 0 0 0 0 6 0 0 1695 41 164 78 1 14 1207 147 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8509 4398 12907 89 6 95 0.0103512 0.0013624 0.00730657 0.0103512 0.0013624 0.00730657 46 CM983741 Fucosyltransferase deficiency 9760207 DM transition C T C>T 1.000 1.739 R Arg CGC 0.190 C Cys TGC 0.552 138 12 11 Platypus -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C25 85.11 126.72 Deleterious 0 III.73 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.003 0.0072 . 0.0089 . . . . . . 0.35789475 . . @ 102 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.850 . @ . . . . . 1 0.983 . . 285.0 . . . 0.0014 0.0073 0.01 0.0014 0.0073 0.01 . 0.5279 0.417 0.528 c . . . . . 6.115e-03 . . . 0.0013 0.0058 0.0038 0.0004 0.0066 0.0103 0.0043 0.0004 0.0011 0.0060 0.0037 0.0003 0.0059 0.0098 0.0043 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.967 . . exonic exonic exonic . . 0.613 0.0030 . . . 0.24 0.24 182 ENSG00000176920 FUT2 FUT2 . . . 0.006 0.112 . 618 0.0095112 64976 603 0.0100523 59986 Benign . 0 . . . . . . . . . . . 37 . 0.968 . . 0.955 . . . 0.855 0.413 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.763 . . 0 0 0 0 0 0 . 0.899 . . 0.706 . . . . . . 0 0.682 . . . . . 0.463 . 0.603 . HET 0.02 rs1800022 . . . . . . . 0.005494505494505495 0.0020325203252032522 0.011049723756906077 0.0 0.009234828496042216 10.938 0.001606 . IV.81 IV.81 . 0.010000 Q10981 . . . 0.007307 . 0.327 . . IV.81 0.0014 0.0062 0.0048 0.0074 5.802e-05 0.0057 0.0098 0.0066 0.0005 0.0022 0.0059 0.0036 0.0166 0 0.0057 0.0085 0.0072 . . 0.372 . 2.384 2.384000 . . 0.010000 . . 1.0E-255 0.998 0.411 . 0.235 0.456 . 0.230 . 0.342 2.384 0.871 0.01 rs1800022 rs1800022 rs1800022 rs1800022 1 1538 10 1/0 0,205,250 +rs374527098 19 49520377 C G - LHB 6584 Luteinizing hormone beta polypeptide NM_000894.2 -1 523 426 NP_000885.1 P01229 substitution upstream GRCh37 49520377 49520377 Chr19(GRCh37):g.49520377C>G -39 -39 NM_000894.2:c.-39G>C p.? p.? 1 152780 -54 5' 94.6711 X.63 0.998994 11.1597 94.6711 X.63 0.998994 11.1069 0 rs374527098 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.039 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.53696495 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 257.0 . . . . . . . . . . 0.7885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.28 0.22 182 ENSG00000104826 LHB LHB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374527098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,229 +rs374527098 19 49520377 C G - RUVBL2 10475 RuvB-like AAA ATPase 2 NM_006666.2 1 2009 1392 NP_006657.1 Q9Y230 substitution downstream GRCh37 49520377 49520377 Chr19(GRCh37):g.49520377C>G *1278 *1278 NM_006666.2:c.*1278C>G p.? p.? 15 604788 1304 3' 82.848 XI.32 0.97026 14.634 82.848 XI.32 0.97026 14.634 0 New Acceptor Site 49520378 4.08883 0.341827 70.5475 rs374527098 yes no Frequency 1 C 0.000000 0 transversion C G C>G 0.039 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.53696495 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 257.0 . . . . . . . . . . 0.7885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.28 0.22 182 ENSG00000104826 LHB LHB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374527098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,229 +rs561572172 19 49893931 C T - CCDC155 26520 Coiled-coil domain containing 155 NM_144688.4 1 2383 1689 NP_653289.3 Q8N6L0 substitution intron GRCh37 49893931 49893931 Chr19(GRCh37):g.49893931C>T -210 -210 NM_144688.4:c.-95-115C>T p.? p.? 2 1 -115 3' 92.4077 XII.65 0.983478 13.4726 92.4077 XII.65 0.983478 13.4726 0 rs561572172 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000550 0.000459 0.001193 0.003311 0.000000 0.000000 0.000668 0.000000 0.001020 0.003311 17 4 1 1 0 0 10 0 1 30914 8708 838 302 1622 0 14974 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 4 1 1 0 0 10 0 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 -0.682 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.41666666 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.2641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000161609 CCDC155 CCDC155 . . . . . . 12 0.000184684 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs561572172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0005 0.0012 0.0033 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs184278008 19 50099569 C T - PRR12 29217 Proline rich 12 NM_020719.2 1 6955 6111 NP_065770.1 substitution synonymous exon GRCh37 50099569 50099569 Chr19(GRCh37):g.50099569C>T 1977 1977 NM_020719.2:c.1977C>T p.Asp659= p.Asp659Asp 4 616633 1616 3' 84.7275 6.75997 0.832813 6.69129 84.7275 6.75997 0.832813 6.69129 0 rs184278008 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.003100 0.000000 0.001000 0.002900 0.000722 0.000217 0.001816 0.000101 0.000000 0.000752 0.000812 0.000000 0.000635 0.001816 194 5 62 1 0 23 99 0 4 268858 23044 34148 9890 18682 30594 121902 24298 6300 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 192 5 62 1 0 23 97 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8104 3790 11894 8 0 8 0.000986193 0 0.000672156 0.000986193 0 0.000672156 15 transition C T C>T 0.079 -1.893 D Asp GAC 0.539 D Asp GAT 0.461 659 255 PASS . 0.0005 0.0028 . . . 0.0012 0.0029 . 0.001 0.0031 ENSG00000126464:ENST00000418929:exon4:c.C1977T:p.D659D PRR12:uc002poo.4:exon4:c.C1977T:p.D659D PRR12:NM_020719:exon4:c.C1977T:p.D659D . . 0.49473685 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 95.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D659|PRR12|mRNA|CODING|NM_020719|NM_020719.ex.4) . 0.0007 0.001 . 0.0007 0.001 . 0.9335 . . . . . . . . 6.521e-04 . . . 0 0.0007 0.0014 0 0.0003 0.0007 0 0.0008 0 0.0007 0.0013 0 0.0002 0.0009 0.0017 0.0008 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.34 0.23 182 ENSG00000126464 PRR12 PRR12 . . . . . . 44 0.000677173 64976 38 0.000633481 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs184278008 . . . . . . . . . . . . . . . . . . . . . . . 0.000672 . . . . . 6.97e-05 0.0008 0.0019 0.0001 0 0 0.0008 0.0008 0.0008 0.0005 0.0005 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs184278008 rs184278008 1 1538 10 1/0 0,255,255 +rs8109529 19 50250872 G A - TSKS 30719 Testis-specific serine kinase substrate NM_021733.1 -1 1812 1779 NP_068379.1 Q9UJT2 substitution intron GRCh37 50250872 50250872 Chr19(GRCh37):g.50250872G>A 580-143 580-143 NM_021733.1:c.580-143C>T p.? p.? 5 4 608253 -143 3' 75.9216 7.38865 0.054064 5.46199 75.9216 7.38865 0.054064 5.46199 0 rs8109529 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30961 8732 836 302 1622 0 14997 3492 980 30962 8732 836 302 1622 0 14998 3492 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15480 4366 418 151 811 0 7498 1746 490 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transition C T C>T 0.000 -0.844 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||TSKS|mRNA|CODING|NM_021733|) . . . . . . . -0.3450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.34 0.37 182 ENSG00000126467 TSKS TSKS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs8109529 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs8109529 rs8109529 rs8109529 rs8109529 1 1538 255 1.I 0,0,255 +rs188257265 19 50333489 C T - MED25 28845 Mediator complex subunit 25 NM_030973.3 1 2343 2244 NP_112235.2 Q71SY5 substitution intron GRCh37 50333489 50333489 Chr19(GRCh37):g.50333489C>T 819+14 819+14 NM_030973.3:c.819+14C>T p.? p.? 7 7 610197 14 5' 84.8076 9.98517 0.989819 X.46 84.8076 9.98517 0.989819 IX.06 0 Cryptic Acceptor Strongly Activated 50333496 0.393355 0.001192 73.0628 0.877217 0.002711 74.5735 rs188257265 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.005000 0.005800 0.001516 0.000258 0.002205 0.012089 0.000108 0.000000 0.001465 0.000168 0.003342 0.012089 404 6 75 120 2 0 176 4 21 266526 23286 34016 9926 18596 30406 120162 23850 6284 0.000015 0.000000 0.000059 0.000201 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 1 1 0 0 0 0 0 400 6 73 118 2 0 176 4 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8385 4173 12558 9 1 10 0.00107219 0.000239578 0.000795672 0.00107219 0.000239578 0.000795672 15 transition C T C>T 0.000 -0.360 255 PASS . 0.0023 0.01 . 0.004 . 0.0018 0.0058 . 0.005 . . . . . . 0.5625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . 0.0002 0.0008 0.0011 0.0002 0.0008 0.0011 . -0.0748 . . . . . . . . 1.173e-03 . . . 0.0004 0.0015 0.0022 0 0.0006 0.0023 0.0078 0 0.0004 0.0013 0.0022 0 0.0005 0.0018 0.0095 0 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.52 0.2 182 ENSG00000104973 MED25 MED25 . . . . . . 85 0.00130818 64976 76 0.00126696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188257265 . . . . . . . . . . . . . . . . . . . . . . . 0.000796 . . . . . 0.0002 0.0016 0.0022 0.0119 0.0001 0.0002 0.0014 0.0036 0 0.0003 0.0012 0.0024 0.0166 0 0 0.0016 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188257265 rs188257265 1 1538 10 1/0 0,255,255 +rs188257265 19 50333489 C T - MIR6800 50042 MicroRNA 6800 NR_106858.1 1 82 0 substitution upstream GRCh37 50333489 50333489 Chr19(GRCh37):g.50333489C>T -1786 -1786 NR_106858.1:n.-1786C>T p.? p.? 1 rs188257265 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.005000 0.005800 0.001516 0.000258 0.002205 0.012089 0.000108 0.000000 0.001465 0.000168 0.003342 0.012089 404 6 75 120 2 0 176 4 21 266526 23286 34016 9926 18596 30406 120162 23850 6284 0.000015 0.000000 0.000059 0.000201 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 1 1 0 0 0 0 0 400 6 73 118 2 0 176 4 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8385 4173 12558 9 1 10 0.00107219 0.000239578 0.000795672 0.00107219 0.000239578 0.000795672 15 transition C T C>T 0.000 -0.360 255 PASS . 0.0023 0.01 . 0.004 . 0.0018 0.0058 . 0.005 . . . . . . 0.5625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . 0.0002 0.0008 0.0011 0.0002 0.0008 0.0011 . -0.0748 . . . . . . . . 1.173e-03 . . . 0.0004 0.0015 0.0022 0 0.0006 0.0023 0.0078 0 0.0004 0.0013 0.0022 0 0.0005 0.0018 0.0095 0 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.52 0.2 182 ENSG00000104973 MED25 MED25 . . . . . . 85 0.00130818 64976 76 0.00126696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188257265 . . . . . . . . . . . . . . . . . . . . . . . 0.000796 . . . . . 0.0002 0.0016 0.0022 0.0119 0.0001 0.0002 0.0014 0.0036 0 0.0003 0.0012 0.0024 0.0166 0 0 0.0016 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188257265 rs188257265 1 1538 10 1/0 0,255,255 +rs769581557 19 50461820 T G - SIGLEC11 15622 Sialic acid binding Ig-like lectin 11 NM_052884.2 -1 3165 2097 NP_443116.2 Q96RL6 substitution synonymous exon GRCh37 50461820 50461820 Chr19(GRCh37):g.50461820T>G 1371 1371 NM_052884.2:c.1371A>C p.Pro457= p.Pro457Pro 8 607157 8 3' 78.8376 14.0681 0.982656 14.0836 78.8376 14.0681 0.988455 13.9262 0.00196712 rs769581557 yes no Frequency 1 T 0.000000 0 0.000025 0.000043 0.000000 0.000000 0.000000 0.000000 0.000045 0.000000 0.000000 0.000045 6 1 0 0 0 0 5 0 0 241742 23186 28638 6820 18074 23738 112068 23718 5500 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.008 -2.781 P Pro CCA 0.274 P Pro CCC 0.328 457 178 PASS . . . . . . . . . . . ENSG00000161640:ENST00000447370:exon8:c.A1371C:p.P457P SIGLEC11:uc010ybh.2:exon8:c.A1371C:p.P457P SIGLEC11:NM_052884:exon8:c.A1371C:p.P457P . . 0.10828026 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 157.0 . . . . . . . . . . -0.2545 . . . . . . . . 2.371e-05 . . . 0 1.282e-05 0 0 0 2.688e-05 0 0 0 2.138e-05 0 0 0 4.03e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161640 SIGLEC11 SIGLEC11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs769581557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +. 19 50461831 TG T - SIGLEC11 15622 Sialic acid binding Ig-like lectin 11 NM_052884.2 -1 3165 2097 NP_443116.2 Q96RL6 deletion splice site GRCh37 50461832 50461832 Chr19(GRCh37):g.50461832del 1364-5 1364-5 NM_052884.2:c.1364-5del p.? p.? 8 7 607157 -5 3' 78.8376 14.0681 0.982656 14.0836 78.1868 13.1633 0.929517 14.0499 -0.0422147 rs781322471 yes no Frequency 1 G 0.000000 0 0.000039 0.000043 0.000000 0.000000 0.000000 0.000000 0.000064 0.000044 0.000000 0.000064 9 1 0 0 0 0 7 1 0 233650 23142 27510 5996 17878 22138 108722 22980 5284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8179 4251 12430 69 13 82 0.00836566 0.00304878 0.00655371 0.00836566 0.00304878 0.00655371 25 C 255 Pass . . . . . . . . . . . . . . . . 0.11004785 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 209 . . . 0.003 0.006 0.0075 0.003 0.0066 0.0084 . . . . . . . . . . 5.533e-05 . . . 0 3.866e-05 0 0 0 8.086e-05 0 0 0 4.306e-05 0 0 0 8.117e-05 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000161640 SIGLEC11 SIGLEC11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781322471 . . . . . . . . . . . . . . . . . . . . . . . 0.005993 . . . . . 0 0 0 0 0 0 0 0 0 0.0001 0.0003 0 0 0 0.0003 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0075 . . . . 1 1538 10 1.I 0,4,96 +rs71353353 19 50473279 A C - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution exon GRCh37 50473279 50473279 Chr19(GRCh37):g.50473279A>C 298 298 NR_002825.1:n.298A>C 2 -170 5' 84.8076 9.98517 0.975199 6.65999 84.8076 9.98517 0.975199 6.65999 0 rs71353353 yes no Frequency/1000G 2 A 0.000000 0 0.024960 0.006800 0.011200 0.078400 0.012900 0.018700 0.003205 0.003561 0.003900 0.009595 0.008242 0.004795 0.001934 0.000439 0.003479 0.009595 825 79 129 91 128 140 226 11 21 257440 22186 33074 9484 15530 29198 116886 25046 6036 0.001010 0.000000 0.001088 0.002531 0.004250 0.001986 0.000548 0.000080 0.001657 130 0 18 12 33 29 32 1 5 565 79 93 67 62 82 162 9 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.125 179 PASS . . . . . 0.0068 0.025 0.019 0.078 0.013 0.011 . . . . . 0.11029412 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 136.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gCa|E118A|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.2) . . . . . . . -0.7200 . . . . . . . . 4.296e-03 . . . 0.0052 0.0032 0.0040 0.0035 0 0.0026 0.0065 0.0033 0.0052 0.0028 0.0040 0.0024 0.0002 0.0024 0.0047 0.0033 . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . 0.0250 . . . 0.24 0.22 182 ENSG00000161643 . SIGLEC16 . dist\x3d8850\x3bdist\x3d1280 . . . . 446 0.00686407 64976 415 0.00691828 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.12 rs71353353 . . . . . . . . . . . . 5.0454 . . I.92 0.703 . 0.260000 . . . . . . . . . . 0.0037 0.0034 0.0040 0.0098 0.0087 0.0005 0.0020 0.0039 0.0048 0.0034 0.0018 0.0013 0.0039 0.0018 0 0.0012 0.0012 . . . . 0.144 0.144000 . . 0.260000 . . 1.0E-179 . . . . . . . . . 0.144 . . . rs71353353 rs71353353 rs71353353 1 1538 10 1/0 0,214,255 +. 19 50474293 G A - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474293 50474293 Chr19(GRCh37):g.50474293G>A 513+668 513+668 NR_002825.1:n.513+668G>A p.? p.? 3 3 668 5' 0 0 0 0 0 0 0 0 0 0.003938 0.000661 0.000000 0.000000 0.000000 0.000000 0.002547 0.009953 0.003597 0.009953 26 1 0 0 0 0 7 17 1 6602 1512 172 44 140 0 2748 1708 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 1 0 0 0 0 7 17 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition G A G>A 0.000 -0.279 251 PASS . . . . . . . . . . . . . . . . 0.3090909 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . INTRON(MODIFIER||||SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|) . . . . . . . -0.1604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream ncRNA_intronic . . . @ . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0039 0 0 0 0.0100 0.0025 0.0036 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 19 50474398 G A - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474398 50474398 Chr19(GRCh37):g.50474398G>A 513+773 513+773 NR_002825.1:n.513+773G>A p.? p.? 3 3 773 5' 0 0 0 0 0 0 0 0 0 0.000079 0.000000 0.000176 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000176 5 0 2 0 0 0 3 0 0 63342 9132 11378 1420 7984 7004 22538 2094 1792 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 2 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.861 219 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T276|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -1.6790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . 0.19 0.22 182 ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.19 . . . . . . . . . . . . . V.08 . . 1.IX -3.8 . 0.380000 . . . . . . . . . . 0 5.615e-05 0.0002 0 0 0 5.355e-05 0 0 0 0.0002 0 0 0 0 0.0005 0 . . . . -2.808 -2.808000 . . 0.380000 . . 1.0E-219 . . . . . . . . . -2.808 . . . . rs112095721 rs112095721 1 1538 10 1/0 0,255,255 +. 19 50474491 G A - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474491 50474491 Chr19(GRCh37):g.50474491G>A 513+866 513+866 NR_002825.1:n.513+866G>A p.? p.? 3 3 866 5' 0 0 0 0 0 0 0 0 0 0.000014 0.000000 0.000052 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000052 2 0 1 0 0 0 1 0 0 143874 17332 19270 4284 12144 18874 56788 11618 3564 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 0.205 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R307|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -0.7749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.63 . . . . . . . . . . . . . III.21 . . I.54 0.425 . 0.580000 . . . . . . . . . . 0 1.712e-05 5.402e-05 0 0 0 2.249e-05 0 0 0 0 0 0 0 0 0 0 . . . . 0.186 0.186000 . . 0.580000 . . 1.0E-193 . . . . . . . . . 0.186 . . . . . . 1 1538 10 1/0 0,222,255 +rs779586136 19 50474514 C T - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474514 50474514 Chr19(GRCh37):g.50474514C>T 513+889 513+889 NR_002825.1:n.513+889C>T p.? p.? 3 3 889 5' 0 0 0 0 0 0 0 0 0 rs779586136 yes no Frequency 1 C 0.000000 0 0.000421 0.003345 0.000133 0.000000 0.000000 0.000000 0.000042 0.000244 0.000000 0.003345 73 63 3 0 0 0 3 4 0 173382 18836 22516 4910 13810 21032 71818 16414 4046 0.000023 0.000212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 69 59 3 0 0 0 3 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.086 208 PASS . . . . . . . . . . . . . . . . 0.1796875 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 128.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T315I|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -0.1257 . . . . . . . . 3.377e-05 . . . 0.0007 0.0002 0 0 0 0.0002 0 0 0.0010 0.0001 0 0 0 0 0 0 . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779586136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0002 0.0001 0 0 0.0003 3.384e-05 0 0 0.0049 0.0015 0 0 0 0 7.865e-05 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +rs550462768 19 50474526 C T - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474526 50474526 Chr19(GRCh37):g.50474526C>T 513+901 513+901 NR_002825.1:n.513+901C>T p.? p.? 3 3 901 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 50474529 IV.59 0.026582 69.8508 4.97706 0.04193 63.6741 rs550462768 yes no Frequency/1000G 2 C 0.000000 0 0.007388 0.021900 0.002000 0.000000 0.005000 0.001400 0.001170 0.010758 0.000121 0.000000 0.000000 0.000000 0.000025 0.000317 0.000230 0.010758 224 212 3 0 0 0 2 6 1 191386 19706 24710 5494 14680 22770 80786 18898 4342 0.000073 0.000710 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 7 7 0 0 0 0 0 0 0 210 198 3 0 0 0 2 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.602 213 PASS . . . . . 0.022 0.0074 0.0014 . 0.005 0.002 . . . . . 0.19259259 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 135.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P319L|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -0.0874 . . . . . . . . 6.116e-04 . . . 0.0159 0.0028 0.0014 0 0 0 0 0 0.0139 0.0020 0.0015 0 0 0 0 0 . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . 0.0074 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550462768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0090 0.0007 0.0001 0 0 0.0004 1.476e-05 0 0 0.0132 0.0039 0 0 0 0 7.665e-05 0.0012 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs568484514 19 50474530 A C - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474530 50474530 Chr19(GRCh37):g.50474530A>C 513+905 513+905 NR_002825.1:n.513+905A>C p.? p.? 3 3 905 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Weakly Activated 50474529 IV.59 0.026582 69.8508 4.69986 0.032049 69.8508 rs568484514 yes no Frequency/1000G 2 A 0.002995 C 15 0.002995 0.010600 0.001000 0.000000 0.000000 0.000000 0.001114 0.010208 0.000196 0.000000 0.000000 0.000043 0.000024 0.000308 0.000226 0.010208 219 204 5 0 0 1 2 6 1 196588 19984 25446 5746 14908 23182 83392 19506 4424 0.000081 0.000801 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 8 0 0 0 0 0 0 0 203 188 5 0 0 1 2 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -1.005 236 PASS . . . . . 0.011 0.003 . . . 0.001 . . . . . 0.26126125 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E320D|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -0.9049 . . . . . . . . 6.188e-04 . . . 0.0152 0.0027 0.0012 0 0 0 0 0.0002 0.0135 0.0019 0.0013 0 0 0 0 0.0002 . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . 0.0030 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 rs568484514 . . . . . . . . . . . . 3.0754 . . I.54 -3.08 . 0.240000 . . . . . . . . . . 0.0086 0.0007 0.0002 0 0 0.0004 1.42e-05 0 4.314e-05 0.0126 0.0037 0 0 0 0 7.72e-05 0.0012 . . . . -1.041 -1.041000 . . 0.240000 . . 1.0E-236 . . . . . . . . . -1.041 . . . . . . 1 1538 10 1/0 0,236,255 +rs551474306 19 50475318 G T - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50475318 50475318 Chr19(GRCh37):g.50475318G>T 513+1693 513+1693 NR_002825.1:n.513+1693G>T p.? p.? 3 3 1693 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 50475331 3.47417 0.024354 71.1087 4.49405 0.110772 76.7053 rs551474306 yes no Frequency/1000G 2 G 0.000000 0 0.007188 0.000800 0.007200 0.000000 0.017900 0.014400 0.000444 0.000126 0.000058 0.000099 0.000265 0.001691 0.000240 0.001019 0.000468 0.001691 122 3 2 1 5 52 30 26 3 274756 23812 34302 10072 18856 30754 125038 25512 6410 0.000036 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000235 0.000000 5 0 0 0 0 2 0 3 0 112 3 2 1 5 48 30 20 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -1.812 181 PASS . . . . . 0.0008 0.0072 0.014 . 0.018 0.0072 . SIGLEC16:uc010ybk.1:exon3:c.G243T:p.P81P . . . 0.11570248 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.5979 . . . . . . . . 3.711e-04 . . . 0 0.0004 0 0.0004 0.0013 4.89e-05 0.0014 0.0018 0 0.0004 0 0.0003 0.0012 7.496e-05 0.0014 0.0018 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0072 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . 5 7.69515e-05 64976 1 1.66706e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs551474306 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 2.987e-05 0 0.0002 0.0006 4.52e-05 0 0.0017 0.0003 0.0016 0.0012 0.0034 0.0012 0.0039 0.0017 0.0032 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs555463195 19 50475332 G A - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50475332 50475332 Chr19(GRCh37):g.50475332G>A 513+1707 513+1707 NR_002825.1:n.513+1707G>A p.? p.? 3 3 1707 5' 0 0 0 0 0 0 0 0 0 rs555463195 yes no Frequency/1000G 2 G 0.000000 0 0.007188 0.000800 0.005100 0.000000 0.018900 0.015900 0.000595 0.000503 0.000175 0.000200 0.000000 0.000326 0.000538 0.002324 0.001094 0.002324 163 12 6 2 0 10 67 59 7 273832 23840 34212 10014 18852 30704 124430 25384 6396 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 3 0 0 0 0 0 0 3 0 157 12 6 2 0 10 67 53 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 193 PASS . . . . . 0.0008 0.0072 0.016 . 0.019 0.0051 . SIGLEC16:uc010ybk.1:exon3:c.G257A:p.R86H . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 119.0 . . . . . . . . . . -1.7120 . . . . . . . . 3.711e-04 . . . 9.936e-05 0.0003 0.0002 0.0002 0.0013 0.0002 0.0014 0.0003 0.0001 0.0003 0.0002 0.0001 0.0012 0.0002 0.0015 0.0003 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0072 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF 1 rs555463195 . . . . . . . . . . . . VI.22 . . I.92 -3.79 . 0.690000 A6NMB1 . . . . . . . . . 6.577e-05 0.0002 5.991e-05 0.0001 0 0.0015 9.092e-05 0 0.0003 0.0013 0.0035 0.0048 0.0034 0 0.0075 0.0039 0.0073 . . . . -0.847 -0.847000 . . 0.690000 . . 1.0E-193 . . . . . . . . . -0.847 . . . . . . 1 1538 10 1/0 0,222,255 +rs567880477 19 50475346 T C - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50475346 50475346 Chr19(GRCh37):g.50475346T>C 513+1721 513+1721 NR_002825.1:n.513+1721T>C p.? p.? 3 3 1721 5' 0 0 0 0 0 0 0 0 0 rs567880477 yes no Frequency/1000G 2 T 0.007588 C 38 0.007588 0.000800 0.004100 0.000000 0.020900 0.017300 0.001034 0.000673 0.000293 0.000203 0.000000 0.000065 0.001161 0.003942 0.001418 0.003942 281 16 10 2 0 2 143 99 9 271750 23770 34074 9858 18846 30604 123138 25114 6346 0.000044 0.000084 0.000000 0.000000 0.000000 0.000000 0.000049 0.000159 0.000000 6 1 0 0 0 0 3 2 0 269 14 10 2 0 2 137 95 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.102 -0.117 222 PASS . . . . . 0.0008 0.0076 0.017 . 0.021 0.0041 . SIGLEC16:uc010ybk.1:exon3:c.T271C:p.F91L . . . 0.21818182 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . . . . . . . . -1.4043 . . . . . . . . 5.843e-04 . . . 0.0001 0.0005 8.711e-05 0.0002 0 0.0009 0 0.0001 0.0001 0.0002 8.975e-05 0.0001 0 0.0002 0 0.0001 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0076 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 1 rs567880477 . . . . . . . . . . . . IV.36 . . I.64 -0.651 . 1.000000 A6NMB1 . . . . . . . . . 6.608e-05 0.0004 0.0001 0 0 0.0028 0.0003 0.0004 6.535e-05 0.0017 0.0060 0.0072 0.0068 0 0.0113 0.0079 0.0073 . . . . -0.098 -0.098000 . . 1.000000 . . 1.0E-222 . . . . . . . . . -0.098 . . . . . . 1 1538 10 1/0 0,232,255 +. 19 50475364 T TG - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 duplication intron GRCh37 50475368 50475369 Chr19(GRCh37):g.50475368dup 513+1743 513+1743 NR_002825.1:n.513+1743dup p.? p.? 3 3 1743 5' 0 0 0 0 0 0 0 0 0 0.006989 0.000800 0.004100 0.000000 0.017900 0.017300 0.002532 0.001309 0.001605 0.001168 0.000000 0.000333 0.002918 0.008037 0.003070 0.008037 674 31 54 11 0 10 349 200 19 266234 23684 33638 9418 18802 30036 119584 24884 6188 0.000083 0.000084 0.000059 0.000000 0.000000 0.000000 0.000117 0.000161 0.000000 11 1 1 0 0 0 7 2 0 652 29 52 11 0 10 335 196 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes G 255 Pass . . . . . 0.0008 0.007 0.017 . 0.018 0.0041 . . . . . 0.25 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 132 . . . . . . . . . . . . . . . . . . . 2.069e-03 . . . 0.0005 0.0015 0.0012 0.0002 0.0022 0.0024 0.0015 0.0004 0.0003 0.0009 0.0012 0.0001 0.0023 0.0011 0 0.0004 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs560022475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0016 0.0014 0.0010 0 0.0062 0.0016 0.0017 0.0003 0.0034 0.0098 0.0096 0.0068 0 0.0197 0.0125 0.0105 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,60 +rs137911744 19 50923120 G A - POLD1 9175 DNA polymerase delta 1, catalytic subunit NM_001308632.1 1 3473 3402 NP_001295561.1 substitution downstream GRCh37 50923120 50923120 Chr19(GRCh37):g.50923120G>A *1916 *1916 NM_001308632.1:c.*1916G>A p.? p.? 26 174761 2022 3' 70.1573 X.66 0.114229 9.27913 70.1573 X.66 0.114229 9.27913 0 rs137911744 yes no Frequency/1000G 2 G 0.000000 0 0.005391 0.000800 0.003100 0.001000 0.011900 0.014400 0.009286 0.002077 0.004661 0.004559 0.000235 0.008622 0.009405 0.021458 0.009772 0.021458 1101 25 53 28 1 127 468 369 30 118570 12036 11372 6142 4264 14730 49760 17196 3070 0.000152 0.000000 0.000000 0.000000 0.000000 0.000136 0.000201 0.000233 0.000651 9 0 0 0 0 1 5 2 1 1083 25 53 28 1 125 458 365 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3145 1382 4527 37 2 39 0.0116279 0.00144509 0.00854139 0.0116279 0.00144509 0.00854139 29 transition G A G>A 0.016 -1.732 255 PASS . 0.01 0.02 . 0.01 0.0008 0.0054 0.014 0.001 0.012 0.0031 . . . . . 0.7941176 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0014 0.0085 0.012 0.0014 0.0085 0.012 . 0.9260 . . . . . . . . 4.123e-03 . . . 0.0018 0.0085 0.0045 0.0015 0.0435 0.0098 0.0071 0.0114 0.0009 0.0095 0.0062 0.0019 0.0455 0.0126 0 0.0114 . . . . . . intronic intronic intronic . . . 0.0054 . . . 0.45 0.64 182 . SPIB SPIB . . . . . . 570 0.00877247 64976 543 0.00905211 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HOM . rs137911744 . . . . . . . . . . . . . . . . . . . . . . . 0.008541 . . . . . 0.0015 0.0096 0.0046 0.0045 0.0004 0.0212 0.0094 0.0105 0.0086 0.0023 0.0083 0.0060 0.0066 0 0.0226 0.0095 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs137911744 rs137911744 1 1538 10 1/0 0,255,255 +rs137911744 19 50923120 G A - SPIB 11242 Spi-B transcription factor (Spi-1/PU.1 related) NM_003121.4 1 3531 789 NP_003112.2 Q01892 substitution intron GRCh37 50923120 50923120 Chr19(GRCh37):g.50923120G>A 24-83 24-83 NM_003121.4:c.24-83G>A p.? p.? 2 1 606802 -83 3' 87.337 XI.34 0.981381 XI.31 87.337 XI.34 0.981381 XI.31 0 rs137911744 yes no Frequency/1000G 2 G 0.000000 0 0.005391 0.000800 0.003100 0.001000 0.011900 0.014400 0.009286 0.002077 0.004661 0.004559 0.000235 0.008622 0.009405 0.021458 0.009772 0.021458 1101 25 53 28 1 127 468 369 30 118570 12036 11372 6142 4264 14730 49760 17196 3070 0.000152 0.000000 0.000000 0.000000 0.000000 0.000136 0.000201 0.000233 0.000651 9 0 0 0 0 1 5 2 1 1083 25 53 28 1 125 458 365 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3145 1382 4527 37 2 39 0.0116279 0.00144509 0.00854139 0.0116279 0.00144509 0.00854139 29 transition G A G>A 0.016 -1.732 255 PASS . 0.01 0.02 . 0.01 0.0008 0.0054 0.014 0.001 0.012 0.0031 . . . . . 0.7941176 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0014 0.0085 0.012 0.0014 0.0085 0.012 . 0.9260 . . . . . . . . 4.123e-03 . . . 0.0018 0.0085 0.0045 0.0015 0.0435 0.0098 0.0071 0.0114 0.0009 0.0095 0.0062 0.0019 0.0455 0.0126 0 0.0114 . . . . . . intronic intronic intronic . . . 0.0054 . . . 0.45 0.64 182 . SPIB SPIB . . . . . . 570 0.00877247 64976 543 0.00905211 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HOM . rs137911744 . . . . . . . . . . . . . . . . . . . . . . . 0.008541 . . . . . 0.0015 0.0096 0.0046 0.0045 0.0004 0.0212 0.0094 0.0105 0.0086 0.0023 0.0083 0.0060 0.0066 0 0.0226 0.0095 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs137911744 rs137911744 1 1538 10 1/0 0,255,255 +rs188761732 19 51016342 C T - ASPDH 33856 Aspartate dehydrogenase domain containing NM_001114598.1 -1 1044 852 NP_001108070.1 A6ND91 substitution intron GRCh37 51016342 51016342 Chr19(GRCh37):g.51016342C>T 198-74 198-74 NM_001114598.1:c.198-74G>A p.? p.? 3 2 -74 3' 86.7182 XI.63 0.988071 XI.54 86.7182 XI.63 0.988071 11.0473 0 rs188761732 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.005593 0.002062 0.002387 0.000000 0.000000 0.000000 0.007018 0.010303 0.012220 0.010303 173 18 2 0 0 0 105 36 12 30930 8730 838 302 1622 0 14962 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 173 18 2 0 0 0 105 36 12 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.770 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . . . . . 0.44285715 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.6450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.27 0.31 182 ENSG00000204653 ASPDH ASPDH . . . . . . 339 0.00521731 64976 334 0.00556797 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs188761732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0056 0.0024 0 0 0.0103 0.0070 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs188761732 rs188761732 1 1538 10 1/0 0,255,255 +rs188761732 19 51016342 C T - JOSD2 28853 Josephin domain containing 2 NM_001270639.1 -1 999 567 NP_001257568.1 Q8TAC2 substitution upstream GRCh37 51016342 51016342 Chr19(GRCh37):g.51016342C>T -1986 -1986 NM_001270639.1:c.-1986G>A p.? p.? 1 615324 -1969 5' 78.6034 5.50481 0.383607 6.09315 78.6034 5.50481 0.383607 6.09315 0 rs188761732 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.005593 0.002062 0.002387 0.000000 0.000000 0.000000 0.007018 0.010303 0.012220 0.010303 173 18 2 0 0 0 105 36 12 30930 8730 838 302 1622 0 14962 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 173 18 2 0 0 0 105 36 12 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.770 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . . . . . 0.44285715 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.6450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.27 0.31 182 ENSG00000204653 ASPDH ASPDH . . . . . . 339 0.00521731 64976 334 0.00556797 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs188761732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0056 0.0024 0 0 0.0103 0.0070 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs188761732 rs188761732 1 1538 10 1/0 0,255,255 +rs112584540 19 51919231 A G - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution synonymous exon GRCh37 51919231 51919231 Chr19(GRCh37):g.51919231A>G 945 945 NM_033130.4:c.945T>C p.Ala315= p.Ala315Ala 5 606091 -80 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 XI.89 0 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs112584540 yes no Frequency/1000G 2 A 0.000000 0 0.003794 0.001500 0.004100 0.000000 0.008900 0.005800 0.004729 0.002420 0.003326 0.001585 0.000265 0.002515 0.006489 0.006960 0.006414 0.006960 1298 58 114 16 5 77 810 177 41 274456 23966 34276 10094 18866 30612 124820 25430 6392 0.000066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000079 0.000000 9 0 0 0 0 0 8 1 0 1280 58 114 16 5 77 794 175 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -3.023 A Ala GCT 0.263 A Ala GCC 0.403 315 227 PASS . . . . . 0.0015 0.0038 0.0058 . 0.0089 0.0041 . . . . . 0.234375 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.4175 . . . . . . . . 8.232e-03 . . . 0.0019 0.0073 0.0042 0 0.0095 0.0111 0.0113 0.0050 0.0019 0.0077 0.0042 0 0.0114 0.0108 0.0073 0.0050 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0038 . . . 0.23 0.3 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . . . . 224 0.00344743 64976 222 0.00370086 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112584540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0041 0.0031 0.0014 0.0002 0.0057 0.0058 0.0055 0.0025 0.0041 0.0094 0.0119 0.0066 0.0006 0.0147 0.0120 0.0114 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs112584540 rs112584540 1 1538 10 1/0 0,227,255 +rs201089294 19 51919235 T C - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution missense exon GRCh37 51919235 51919235 Chr19(GRCh37):g.51919235T>C 941 941 NM_033130.4:c.941A>G p.Lys314Arg p.Lys314Arg 5 606091 -84 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 11.0836 0 Cryptic Donor Strongly Activated 51919240 0.00865 66.4519 5.50481 0.722833 78.6034 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs201089294 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.001500 0.004100 0.000000 0.008900 0.005800 0.004672 0.002423 0.003177 0.001684 0.000265 0.002416 0.006476 0.006611 0.006723 0.006611 1282 58 109 17 5 74 808 168 43 274408 23936 34304 10096 18866 30624 124772 25414 6396 0.000066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000079 0.000000 9 0 0 0 0 0 8 1 0 1264 58 109 17 5 74 792 166 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3736202|COSM3736203 Skin|Skin 0.000812|0.000812 1232|1232 transition A G A>G 0.000 -0.279 K Lys AAG 0.575 R Arg AGG 0.207 314 12 9 Horse 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 241.59 5.VII Tolerated 0.23 III.15 230 PASS . . . . . 0.0015 0.0038 0.0058 . 0.0089 0.0041 . . . . . 0.24193548 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.143 . . 124.0 . . . . . . . . . . -0.9408 -1.063 -0.941 c . . . . . 8.137e-03 . . . 0.0019 0.0071 0.0038 0 0.0092 0.0110 0.0113 0.0048 0.0019 0.0076 0.0038 0 0.0112 0.0108 0.0073 0.0048 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.682 . . exonic exonic exonic . . 0.079 0.0038 . . . 0.27 0.25 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . 0.826 0.246 . 222 0.00341665 64976 221 0.00368419 59986 Likely_benign . 0 . 0.033 . . . . . . . . . 37 . 0.572 . . 0.389 . . . 0.162 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.360 . . 0.448 . . . . . . 1 0.280 . . . . . 0.012 . 0.153 . HET 0.28 rs201089294 . . . . . . . . . . . . 0.8962 . . IV.37 -1.6 . 0.320000 . . . . . . 0.034 . . . 0.0014 0.0041 0.0030 0.0015 0.0002 0.0054 0.0057 0.0059 0.0024 0.0041 0.0093 0.0119 0.0066 0.0006 0.0141 0.0119 0.0114 . . 0.372 . -0.440 -0.440000 . . 0.320000 . . 1.0E-230 0.000 0.063 . 0.100 0.011 . 0.122 . 0.207 -0.440 0.079 . . . rs201089294 rs201089294 1 1538 10 1/0 0,229,255 +rs199590261 19 51919237 C T - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution synonymous exon GRCh37 51919237 51919237 Chr19(GRCh37):g.51919237C>T 939 939 NM_033130.4:c.939G>A p.Val313= p.Val313Val 5 606091 -86 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 11.0836 0 Cryptic Donor Strongly Activated 51919240 0.00865 66.4519 3.52811 0.247691 70.8142 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs199590261 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.001500 0.004100 0.000000 0.008900 0.005800 0.004927 0.002339 0.003352 0.002177 0.000265 0.002547 0.006899 0.006687 0.007027 0.006899 1353 56 115 22 5 78 862 170 45 274620 23944 34310 10106 18864 30630 124938 25424 6404 0.000066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000079 0.000000 9 0 0 0 0 0 8 1 0 1335 56 115 22 5 78 846 168 45 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.016 0.609 V Val GTG 0.468 V Val GTA 0.114 313 204 PASS . . . . . 0.0015 0.0038 0.0058 . 0.0089 0.0041 . . . . . 0.17037037 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 0.4476 . . . . . . . . 8.153e-03 . . . 0.0019 0.0072 0.0038 0 0.0095 0.0110 0.0114 0.0048 0.0019 0.0076 0.0038 0 0.0114 0.0107 0.0073 0.0048 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0038 . . . 0.31 0.24 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . . . . 222 0.00341665 64976 221 0.00368419 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199590261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.15 0.0013 0.0044 0.0031 0.0020 0.0002 0.0055 0.0062 0.0063 0.0025 0.0041 0.0093 0.0119 0.0066 0.0006 0.0141 0.0119 0.0113 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs199590261 rs199590261 1 1538 10 1/0 0,219,255 +rs199660336 19 51919243 G A - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution synonymous exon GRCh37 51919243 51919243 Chr19(GRCh37):g.51919243G>A 933 933 NM_033130.4:c.933C>T p.Pro311= p.Pro311Pro 5 606091 -92 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 11.0836 0 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs199660336 yes no Frequency 1 G 0.000000 0 0.006292 0.002769 0.003819 0.002768 0.000265 0.003521 0.008822 0.009129 0.008419 0.009129 1730 66 131 28 5 108 1105 233 54 274966 23834 34300 10114 18856 30672 125252 25524 6414 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000078 0.000000 9 0 0 0 0 0 8 1 0 1712 66 131 28 5 108 1089 231 54 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.031 -0.037 P Pro CCC 0.328 P Pro CCT 0.283 311 208 PASS . . . . . . . . . . . . . . . . 0.18032786 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.2374 . . . . . . . . 8.650e-03 . . . 0.0071 0.0078 0.0040 0.0002 0.0095 0.0111 0.0114 0.0048 0.0072 0.0081 0.0040 0.0001 0.0114 0.0108 0.0073 0.0048 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.27 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . . . . 234 0.00360133 64976 231 0.0038509 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199660336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0059 0.0036 0.0026 0.0002 0.0083 0.0084 0.0079 0.0035 0.0041 0.0093 0.0119 0.0066 0.0006 0.0144 0.0120 0.0113 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs199660336 rs199660336 1 1538 10 1/0 0,225,255 +rs200798488 19 51919244 G C - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution missense exon GRCh37 51919244 51919244 Chr19(GRCh37):g.51919244G>C 932 932 NM_033130.4:c.932C>G p.Pro311Arg p.Pro311Arg 5 606091 -93 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 11.0836 0 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs200798488 yes no Frequency 1 G 0.000000 0 0.006492 0.002631 0.003933 0.003161 0.000265 0.003586 0.009103 0.009588 0.008720 0.009588 1787 63 135 32 5 110 1141 245 56 275250 23948 34322 10122 18862 30678 125344 25552 6422 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000078 0.000000 9 0 0 0 0 0 8 1 0 1769 63 135 32 5 110 1125 243 56 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM2756156|COSM2756157 Skin|Skin 0.000812|0.000812 1232|1232 transversion C G C>G 0.339 0.286 P Pro CCC 0.328 R Arg CGC 0.190 311 12 8 Horse -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Tolerated 0.09 III.39 227 PASS . . . . . . . . . . . . . . . . 0.23255815 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.365 . @ . . . . . 1 0.223 . . 129.0 . . . . . . . . . . -0.5292 -0.622 -0.529 c . . . . . 8.161e-03 . . . 0.0019 0.0072 0.0038 0 0.0095 0.0111 0.0114 0.0048 0.0019 0.0076 0.0038 0 0.0114 0.0108 0.0073 0.0048 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.654 . . exonic exonic exonic . . 0.190 @ . . . 0.27 0.25 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . 0.798 0.241 . 233 0.00358594 64976 231 0.0038509 59986 Likely_benign . 0 . 0.327 . . . . . . . . . 37 . 0.537 . . 0.442 . . . 0.539 0.347 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.961 . . 0 0 0 0 0 0 . 0.417 . . 0.484 . . . . . . 1 0.359 . . . . . 0.078 . 0.374 . HET 0.17 rs200798488 . . . . . . . . . . . . III.72 . . IV.37 1.I . 0.130000 . . . . . . 0.195 . . . 0.0018 0.0061 0.0037 0.0031 0.0002 0.0088 0.0087 0.0083 0.0036 0.0041 0.0093 0.0120 0.0066 0.0006 0.0144 0.0119 0.0113 . . 0.372 . 0.130 0.130000 . . 0.130000 . . 1.0000000000000001E-227 0.902 0.312 . 0.175 0.257 . 0.319 . 0.168 0.130 -0.033 . . . rs200798488 rs200798488 1 1538 10 1/0 0,227,255 +. 19 53078980 A G - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution intron GRCh37 53078980 53078980 Chr19(GRCh37):g.53078980A>G 214-168 214-168 NM_001172655.1:c.214-168A>G p.? p.? 4 3 -168 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.977638 11.1108 0 transition A G A>G 0.000 -1.328 164 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.6932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-164 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs55676142 19 53078992 C G - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution intron GRCh37 53078992 53078992 Chr19(GRCh37):g.53078992C>G 214-156 214-156 NM_001172655.1:c.214-156C>G p.? p.? 4 3 -156 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.977638 11.1108 0 rs55676142 no no 0 C 0.000000 0 transversion C G C>G 0.000 -0.360 212 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.5207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.28 182 ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55676142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs55676142 rs55676142 1 1538 10 1/0 0,255,255 +. 19 53078993 A G - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution intron GRCh37 53078993 53078993 Chr19(GRCh37):g.53078993A>G 214-155 214-155 NM_001172655.1:c.214-155A>G p.? p.? 4 3 -155 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.977638 11.1108 0 transition A G A>G 0.000 0.528 217 PASS . . . . . . . . . . . . . . . . 0.20754717 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.2860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.24 182 ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs78741617 rs78741617 1 1538 10 1/0 0,255,255 +rs762020168 19 53079141 C A - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution intron GRCh37 53079141 53079141 Chr19(GRCh37):g.53079141C>A 214-7 214-7 NM_001172655.1:c.214-7C>A p.? p.? 4 3 -7 3' 97.8009 X.42 0.977638 11.1108 97.599 9.40499 0.937253 9.37058 -0.0597593 rs762020168 yes no Frequency 1 C 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 0.000089 2 0 0 0 0 2 0 0 0 187590 13016 23702 6012 14976 22454 90368 13054 4008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 49 Exomes transversion C A C>A 0.102 -1.005 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.4825 . . . . . . . . 2.424e-05 . . . 0 3.864e-05 0 0 0 4.309e-05 0 0.0001 0 3.198e-05 0 0 0 3.096e-05 0 0.0001 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.26 0.21 182 ENSG00000268886 ZNF701 ZNF701 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762020168 . . . . . . . . . . . . . . . . . . . . 0.0001 0.01 . . . . . . . 0 1.066e-05 0 0 0 0 0 0 8.907e-05 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs28706062 rs28706062 rs28706062 rs28706062 1 1538 10 1/0 0,253,255 +. 19 53079153 A G - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution synonymous exon GRCh37 53079153 53079153 Chr19(GRCh37):g.53079153A>G 219 219 NM_001172655.1:c.219A>G p.Leu73= p.Leu73Leu 4 6 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.977995 XI.93 0.000121722 Cryptic Acceptor Weakly Activated 53079165 3.53509 0.015381 79.4295 3.87052 0.021706 79.46 transition A G A>G 0.000 -0.763 L Leu CTA 0.070 L Leu CTG 0.404 73 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.3696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.26 182 ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . rs71361285 . . 1 1538 10 1/0 0,250,255 +rs765462669 19 53079154 C T - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution synonymous exon GRCh37 53079154 53079154 Chr19(GRCh37):g.53079154C>T 220 220 NM_001172655.1:c.220C>T p.Leu74= p.Leu74Leu 4 7 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.9758 X.59 -0.00062668 Cryptic Acceptor Strongly Activated 53079165 3.53509 0.015381 79.4295 4.36742 0.065239 83.5314 Krueppel-associated box rs765462669 yes no Frequency 1 T 0.000000 0 transition C T C>T 0.008 -0.763 L Leu CTG 0.404 L Leu TTG 0.127 74 196 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.6069 . . . . . . . . 3.208e-05 . . . 0 4.735e-05 0 0 0 7.025e-05 0 9.454e-05 0 3.912e-05 0 0 0 5.068e-05 0 9.526e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.24 182 ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs765462669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs28462670 rs28462670 rs28462670 rs28462670 1 1538 10 1/0 0,252,255 +rs62115350 19 53879043 T C - ZNF525 29423 Zinc finger protein 525 NM_001348156.1 1 6145 1440 NP_001335085.1 substitution synonymous exon GRCh37 53879043 53879043 Chr19(GRCh37):g.53879043T>C 36 36 NM_001348156.1:c.36T>C p.Asp12= p.Asp12Asp 3 21 3' 97.599 9.40499 0.92339 8.23157 97.599 9.40499 0.92339 8.58576 0 rs62115350 yes no Frequency 1 0.000000 0 0.000740 0.005655 0.000236 0.000306 0.000000 0.000066 0.000343 0.000677 0.000160 0.005655 198 126 8 3 0 2 42 16 1 267398 22282 33846 9798 18770 30360 122458 23628 6256 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 198 126 8 3 0 2 42 16 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.992 0.448 D Asp GAT 0.461 D Asp GAC 0.539 12 235 PASS . . . . . . . . . . . . . . . . 0.25757575 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 132.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C41R|ZNF525|Non-coding_transcript|NON_CODING|NR_003699|NR_003699.ex.3) . . . . . . . 0.3130 . . . . . . . . 5.176e-03 . . . 0.0244 0.0047 0.0025 0.0004 0.0019 0.0034 0.0072 0.0005 0.0242 0.0033 0.0024 0.0001 0.0019 0.0019 0.0029 0.0004 synonymous_SNV . . . . . exonic UTR5 ncRNA_exonic . . . @ . . . 0.56 0.39 182 ENSG00000203326 . ZNF525 . uc010eqn.3:c.-73T>C\x3buc010ydx.2:c.-22226T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62115350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0003 0.0002 0.0003 0 0.0007 0.0002 0.0002 6.588e-05 0.0127 0.0042 0.0024 0 0 0.0006 0.0012 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs62115350 rs62115350 rs62115350 rs62115350 1 1538 10 1/0 0,228,255 +rs376997783 19 54672428 G A - TMC4 22998 Transmembrane channel-like 4 NM_001145303.2 -1 2481 2139 NP_001138775.2 Q7Z404 substitution intron GRCh37 54672428 54672428 Chr19(GRCh37):g.54672428G>A 461-22 461-22 NM_001145303.2:c.461-22C>T p.? p.? 4 3 617181 -22 3' 83.7812 XI.79 0.817762 X.97 83.7812 XI.79 0.817762 X.65 0 rs376997783 yes no Frequency 1 G 0.000000 0 0.001771 0.000435 0.000593 0.001421 0.000000 0.000701 0.003288 0.000861 0.002905 0.003288 187 6 7 4 0 6 143 13 8 105598 13796 11810 2814 7268 8562 43490 15104 2754 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000046 0.000000 0.000000 1 0 0 0 0 0 1 0 0 185 6 7 4 0 6 141 13 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8373 4259 12632 9 1 10 0.00107373 0.000234742 0.000791014 0.00107373 0.000234742 0.000791014 10 transition C T C>T 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . 0.0002 0.0008 0.0011 0.0002 0.0008 0.0011 . 0.8599 . . . . . . . . 8.790e-04 . . . 0.0005 0.0020 0 0 0 0.0031 0 0.0020 0.0007 0.0030 0 0 0 0.0058 0 0.0020 . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.4 182 ENSG00000167608 TMC4 TMC4 . . . . . . 81 0.00124661 64976 81 0.00135032 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs376997783 . . . . . . . . . . . . . . . . . . . . . . . 0.000791 . . . . . 0 0.0015 0.0005 0.0016 0 0.0009 0.0028 0.0028 0.0007 0.0007 0.0025 0.0012 0 0 0.0009 0.0043 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0011 . . rs376997783 rs376997783 1 1538 10 1/0 0,255,255 +. 19 54723855 C CCCT - LILRB3 6607 Leukocyte immunoglobulin like receptor B3 NM_001320960.1 -1 2873 1947 NP_001307889.1 insertion intron GRCh37 54723855 54723856 Chr19(GRCh37):g.54723855_54723856insCCT 1310-68 1310-67 NM_001320960.1:c.1310-68_1310-67insAGG p.? p.? 8 7 604820 -67 3' 81.0824 7.36852 0.665409 7.34417 81.0824 7.36852 0.665409 7.57848 0 rs780744307 no no 0 0.000000 0 0.000012 0.000000 0.000063 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 1 0 1 0 0 0 0 0 0 85844 5026 15786 4528 7412 14756 27194 8948 2194 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 58 Exomes AGG 255 Pass . . . . . . . . . . . . . . . . 0.91964287 . . . 103 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . . LILRB3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.165e-05 6.335e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,3,4 +rs74407620 19 54723856 T A - LILRB3 6607 Leukocyte immunoglobulin like receptor B3 NM_001320960.1 -1 2873 1947 NP_001307889.1 substitution intron GRCh37 54723856 54723856 Chr19(GRCh37):g.54723856T>A 1310-68 1310-68 NM_001320960.1:c.1310-68A>T p.? p.? 8 7 604820 -68 3' 81.0824 7.36852 0.665409 7.34417 81.0824 7.36852 0.665409 7.47939 0 rs74407620 yes no Frequency/1000G 2 0.000000 0 0.000998 0.001500 0.002000 0.000000 0.001000 0.000000 0.000078 0.000168 0.000197 0.000000 0.000000 0.000000 0.000029 0.000000 0.000737 0.000197 8 2 3 0 0 0 1 0 2 102762 11926 15228 4500 8418 14080 34940 10958 2712 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 2 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.000 -1.005 255 PASS 0.04 0.03 0.02 0.01 0.04 0.0015 0.001 . . 0.001 0.002 . . . . . 0.8288288 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.7934 . . . . . . . . 1.360e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.24 0.11 182 . . LILRB3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 8.742e-05 0.0002 0 0 0 4.006e-05 0.0010 0 0.0001 4.407e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 . . rs74407620 rs74407620 1 1538 10 1/0 0,255,251 +. 19 54743637 GA G - LILRA6 15495 Leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 NM_024318.3 -1 1458 1446 NP_077294.3 deletion intron GRCh37 54743638 54743638 Chr19(GRCh37):g.54743638del 1309+139 1309+139 NM_024318.3:c.1309+139del p.? p.? 7 7 139 5' 87.1266 10.0978 0.968565 XII.56 87.1266 10.0978 0.968565 XII.56 0 rs773046389 yes no Frequency 1 0.000000 0 0.003121 0.006152 0.000728 0.001315 0.001526 0.001540 0.004667 0.001834 0.002716 0.006152 551 93 18 11 18 35 329 34 13 176544 15118 24714 8368 11792 22728 70502 18536 4786 0.000102 0.000794 0.000000 0.000000 0.000000 0.000088 0.000057 0.000000 0.000000 9 6 0 0 0 1 2 0 0 533 81 18 11 18 33 325 34 13 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . LILRA6:uc010yep.1:exon7:c.1448delT:p.F483fs . . . 0.25062034 . . . 101 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 403 . . . . . . . . . . . . . . . . . . . 5.508e-04 . . . 0.0028 0.0021 0 0 0 0.0039 0.0056 0.0005 0.0023 0.0005 0 0 0 0.0003 0 0.0005 . frameshift_deletion . . . . intronic exonic intronic . . . . . . . . . . . LILRA6 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773046389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0051 0.0020 0.0006 0.0009 0.0015 0.0011 0.0030 0.0016 0.0015 0.0071 0.0084 0.0048 0.0136 0.0019 0.0052 0.0108 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,60 +rs199773766 19 54780300 C T - LILRA6 15495 Leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 NM_024318.3 -1 1458 1446 NP_077294.3 substitution intron GRCh37 54780300 54780300 Chr19(GRCh37):g.54780300C>T 70+3819 70+3819 NM_024318.3:c.70+3819G>A p.? p.? 2 2 3819 5' 95.6376 X.36 0.991398 X.55 95.6376 X.36 0.991398 X.55 0 rs199773766 yes no Frequency/1000G 2 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 2 0 0 0 0 0 2 0 0 229236 14180 31708 8842 16578 29282 102440 21138 5068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 55 Exomes transition G A G>A 0.008 0.205 174 PASS 0.04 0.02 . 0.0017 0.03 . . . . . . . . . . . 0.10204082 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 98.0 . . . . . . . . . . -0.0495 . . . . . . . . 7.957e-06 . . . 0 1.571e-05 0 0 0 3.289e-05 0 0 0 1.388e-05 0 0 0 2.638e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.25 182 ENSG00000131042 LILRB2 LILRB2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.725e-06 0 0 0 0 1.952e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . 0.04 rs61730065 rs61730065 rs61730065 rs199773766 1 1538 10 1/0 0,227,255 +rs199773766 19 54780300 C T - LILRB2 6606 Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 NM_005874.4 -1 2925 1797 NP_005865.3 Q8N423 substitution synonymous exon GRCh37 54780300 54780300 Chr19(GRCh37):g.54780300C>T 1494 1494 NM_005874.4:c.1494G>A p.Lys498= p.Lys498Lys 11 604815 11 3' 82.8102 X.97 0.935081 8.50831 82.8102 X.97 0.945885 8.78478 0.00385136 rs199773766 yes no Frequency/1000G 2 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 2 0 0 0 0 0 2 0 0 229236 14180 31708 8842 16578 29282 102440 21138 5068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 55 Exomes transition G A G>A 0.008 0.205 K Lys AAG 0.575 K Lys AAA 0.425 498 174 PASS 0.04 0.02 . 0.0017 0.03 . . . . . . . . . . . 0.10204082 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 98.0 . . . . . . . . . . -0.0495 . . . . . . . . 7.957e-06 . . . 0 1.571e-05 0 0 0 3.289e-05 0 0 0 1.388e-05 0 0 0 2.638e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.25 182 ENSG00000131042 LILRB2 LILRB2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.725e-06 0 0 0 0 1.952e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . 0.04 rs61730065 rs61730065 rs61730065 rs199773766 1 1538 10 1/0 0,227,255 +rs139961541 19 54780769 G C - LILRA6 15495 Leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 NM_024318.3 -1 1458 1446 NP_077294.3 substitution intron GRCh37 54780769 54780769 Chr19(GRCh37):g.54780769G>C 70+3350 70+3350 NM_024318.3:c.70+3350C>G p.? p.? 2 2 3350 5' 95.6376 X.36 0.991398 X.55 95.6376 X.36 0.991398 X.55 0 rs139961541 yes no Frequency 1 0.000000 0 0.002662 0.004171 0.001283 0.009095 0.000000 0.002704 0.002622 0.002882 0.002579 0.009095 705 94 43 86 0 81 314 71 16 264838 22538 33524 9456 18762 29956 119760 24638 6204 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 705 94 43 86 0 81 314 71 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM713745|COSM713745 Thyroid|Skin 0.002677|0.000812 747|1232 transversion C G C>G 0.028 1.174 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.115 . . 105.0 . . . . . . . . . . -0.8911 -0.982 -0.891 c . . . . . 8.619e-03 . . . 0.0336 0.0094 0.0008 0.0004 0.0016 0.0077 0.0072 0.0099 0.0355 0.0077 0.0008 0.0007 0.0009 0.0058 0.0074 0.0100 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.219 @ . . . 0.15 0.25 182 ENSG00000131042 LILRB2 LILRB2 . . . 1.000 0.451 . . . . . . . Likely_benign . 0 . 0.005 . . . . . . . . . 37 . 0.006 . . 0.477 . . . 0.712 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.375 . . 0 0 0 0 0 0 . 0.215 . . 0.193 . . . . . . 1 0.506 . . . . . 0.216 . 0.539 . LowAF 0.01 . . . . . . . . . . . . . 6.574 0.03023 . 1.V 1.V . 0.220000 . . . . . . 0.088 . . . 0.0064 0.0030 0.0013 0.0094 0 0.0033 0.0030 0.0031 0.0027 0.0005 0.0003 0 0 0 0.0003 0.0002 0 . . 0.455 . 1.185 1.185000 . . 0.220000 . . 1.0E-180 0.007 0.175 . 0.074 0.079 . 0.219 . 0.326 1.185 0.676 . rs45511398 rs45511398 rs45511398 rs139961541 1 1538 10 1/0 0,225,255 +rs139961541 19 54780769 G C - LILRB2 6606 Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 NM_005874.4 -1 2925 1797 NP_005865.3 Q8N423 substitution missense exon GRCh37 54780769 54780769 Chr19(GRCh37):g.54780769G>C 1375 1375 NM_005874.4:c.1375C>G p.Leu459Val p.Leu459Val 10 604815 15 3' 75.2315 3.69835 0.184038 0 75.2315 3.69835 0.131015 0 -0.0960363 rs139961541 yes no Frequency 1 0.000000 0 0.002662 0.004171 0.001283 0.009095 0.000000 0.002704 0.002622 0.002882 0.002579 0.009095 705 94 43 86 0 81 314 71 16 264838 22538 33524 9456 18762 29956 119760 24638 6204 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 705 94 43 86 0 81 314 71 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM713745|COSM713745 Thyroid|Skin 0.002677|0.000812 747|1232 transversion C G C>G 0.028 1.174 L Leu CTG 0.404 V Val GTG 0.468 459 6 2 Chimp 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Deleterious 0 IV.32 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.115 . . 105.0 . . . . . . . . . . -0.8911 -0.982 -0.891 c . . . . . 8.619e-03 . . . 0.0336 0.0094 0.0008 0.0004 0.0016 0.0077 0.0072 0.0099 0.0355 0.0077 0.0008 0.0007 0.0009 0.0058 0.0074 0.0100 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.219 @ . . . 0.15 0.25 182 ENSG00000131042 LILRB2 LILRB2 . . . 1.000 0.451 . . . . . . . Likely_benign . 0 . 0.005 . . . . . . . . . 37 . 0.006 . . 0.477 . . . 0.712 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.375 . . 0 0 0 0 0 0 . 0.215 . . 0.193 . . . . . . 1 0.506 . . . . . 0.216 . 0.539 . LowAF 0.01 . . . . . . . . . . . . . 6.574 0.03023 . 1.V 1.V . 0.220000 . . . . . . 0.088 . . . 0.0064 0.0030 0.0013 0.0094 0 0.0033 0.0030 0.0031 0.0027 0.0005 0.0003 0 0 0 0.0003 0.0002 0 . . 0.455 . 1.185 1.185000 . . 0.220000 . . 1.0E-180 0.007 0.175 . 0.074 0.079 . 0.219 . 0.326 1.185 0.676 . rs45511398 rs45511398 rs45511398 rs139961541 1 1538 10 1/0 0,225,255 +rs181428406 19 54941923 G A - TTYH1 13476 Tweety homolog 1 (Drosophila) NM_001005367.2 1 1858 1383 NP_001005367.1 substitution intron GRCh37 54941923 54941923 Chr19(GRCh37):g.54941923G>A 940-68 940-68 NM_001005367.2:c.940-68G>A p.? p.? 9 8 605784 -68 3' 92.1993 XI.77 0.987189 15.2218 92.1993 XI.77 0.987189 15.0161 0 rs181428406 yes no Frequency/1000G 2 G 0.000000 0 0.004393 0.000000 0.003100 0.001000 0.012900 0.007200 0.006022 0.001839 0.003580 0.016556 0.000617 0.000000 0.007889 0.008023 0.015369 0.016556 186 16 3 5 1 0 118 28 15 30888 8702 838 302 1622 0 14958 3490 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 16 3 5 1 0 118 28 15 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.682 255 PASS . 0.0037 . . 0.01 . 0.0044 0.0072 0.001 0.013 0.0031 . . . . . 0.62857145 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.5524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . 0.0044 . . . 0.43 0.4 182 ENSG00000227407 TTYH1 TTYH1 . . . . . . 336 0.00517114 64976 314 0.00523455 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0060 0.0036 0.0166 0.0006 0.0080 0.0079 0.0154 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs181428406 rs181428406 1 1538 10 1/0 0,255,255 +rs142100665 19 55179184 T C - LILRB4 6608 Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 NM_001278429.3 1 3869 1437 NP_001265358.2 substitution synonymous exon GRCh37 55179184 55179184 Chr19(GRCh37):g.55179184T>C 1230 1230 NM_001278429.3:c.1230T>C p.Ser410= p.Ser410Ser 10 604821 -61 5' 92.583 10.0326 0.996506 12.0181 92.583 10.0326 0.996506 XII.92 0 rs142100665 yes no Frequency/1000G 2 T 0.000000 0 0.009385 0.025000 0.007200 0.000000 0.005000 0.002900 0.001014 0.003353 0.002669 0.000792 0.000000 0.000557 0.000457 0.000997 0.000627 0.003353 274 77 87 8 0 17 57 24 4 270288 22962 32598 10104 18840 30514 124804 24084 6382 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 274 77 87 8 0 17 57 24 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287111 Pancreas 0.000569 1758 transition T C T>C 0.000 -4.960 S Ser TCT 0.185 S Ser TCC 0.220 410 190 PASS . . . . . 0.025 0.0094 0.0029 . 0.005 0.0072 . . . . . 0.13483146 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . -1.1351 . . . . . . . . 8.998e-03 . . . 0.0168 0.0109 0.0410 0.0007 0.0050 0.0055 0.0042 0.0057 0.0144 0.0076 0.0414 0.0001 0.0032 0.0020 0.0029 0.0057 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0094 . . . 0.13 0.16 182 ENSG00000186818 LILRB4 LILRB4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs142100665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0010 0.0027 0.0008 0 0.0011 0.0004 0.0004 0.0006 0.0028 0.0012 0 0 0 0.0003 0.0007 0.0021 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs61743358 rs61743358 rs61743358 rs142100665 1 1538 10 1/0 0,234,255 +rs143761941 19 55179186 G A - LILRB4 6608 Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 NM_001278429.3 1 3869 1437 NP_001265358.2 substitution missense exon GRCh37 55179186 55179186 Chr19(GRCh37):g.55179186G>A 1232 1232 NM_001278429.3:c.1232G>A p.Gly411Glu p.Gly411Glu 10 604821 -59 5' 92.583 10.0326 0.996506 12.0181 92.583 10.0326 0.996506 XII.16 0 New Acceptor Site 55179188 0.272602 0.003669 68.773 rs143761941 yes no Frequency/1000G 2 G 0.000000 0 0.009385 0.025000 0.007200 0.000000 0.005000 0.002900 0.000389 0.002504 0.000175 0.000000 0.000000 0.000033 0.000208 0.000538 0.000313 0.002504 106 58 6 0 0 1 26 13 2 272812 23160 34342 10100 18846 30736 125044 24186 6398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 58 6 0 0 1 26 13 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287112|COSM4287112 Prostate|Pancreas 0.000567|0.000569 1764|1758 transition G A G>A 0.000 -0.198 G Gly GGG 0.250 E Glu GAG 0.583 411 8 4 Platypus -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 0.32 III.38 174 PASS . . . . . 0.025 0.0094 0.0029 . 0.005 0.0072 . . . . . 0.10204082 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.021 . . 98.0 . . . . . . . . . . -1.7342 -1.786 -1.734 c . . . . . 3.244e-03 . . . 0.0131 0.0038 0.0016 0.0005 0.0013 0.0041 0 0.0008 0.0104 0.0016 0.0014 0.0001 0.0008 0.0007 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.068 0.0094 . . . 0.11 0.13 182 ENSG00000186818 LILRB4 LILRB4 . . . 0.001 0.077 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.002 . . 0.201 . . . 0.263 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 1 0.085 . . . . . 0.248 . 0.321 . LowAF 0.53 rs143761941 . . . . . . . . . . . . 7.1813 0.002142 . II.36 -2.07 . 0.710000 . . . . . . 0.012 . . . 0.0028 0.0003 0.0002 0 0 0.0006 0.0002 0 3.254e-05 0.0020 0.0009 0 0 0 0 0.0005 0.0021 . . 0.609 . -0.416 -0.416000 . . 0.710000 . . 1.0E-174 0.000 0.063 . 0.016 0.001 . 0.013 . 0.006 -0.416 -0.467 . . . rs143761941 rs143761941 1 1538 10 1/0 0,227,255 +. (chr19:55209080 G/A) 19 55209080 G A No Alamut gene - other known genes: LILRP1 LILRP1 +. 19 55237554 G A - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution missense exon GRCh37 55237554 55237554 Chr19(GRCh37):g.55237554G>A 106 106 NM_153443.4:c.106G>A p.Gly36Ser p.Gly36Ser 3 610095 36 3' 88.5934 XI.45 0.991945 XII.57 88.5934 XI.45 0.991945 XI.12 0 New Acceptor Site 55237556 4.69608 0.556421 74.544 Immunoglobulin subtype transition G A G>A 0.004 -0.279 G Gly GGC 0.342 S Ser AGC 0.243 36 7 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 200.65 0.00 Tolerated 0.98 3.III 179 PASS . . . . . . . . . . . ENSG00000242019:ENST00000291860:exon3:c.G106A:p.G36S KIR3DL3:uc002qgu.1:exon3:c.G106A:p.G36S KIR3DL3:NM_153443:exon3:c.G106A:p.G36S . . 0.110526316 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.041 . . 190.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G36S|KIR3DL3|mRNA|CODING|NM_153443|NM_153443.ex.3) . . . . . . . -1.8906 -1.859 -1.891 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.169 @ . . . . . . ENSG00000242019 KIR3DL3 KIR3DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.144 . . . . T 0.011 0.001 . . 37 . 0.003 . . 0.417 . . . 0.006 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.112 . . 0.093 . . . . . . 0 0.010 . . . . . 0.115 . 0.012 . LowAF 1 . . . . . . . . . . . . . 4.573 . ENST00000291860 I.79 0.652 . 1.000000 Q8N743 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.557 -0.557000 . . 1.000000 . . 1.0E-179 0.000 0.063 . 0.016 0.001 . 0.062 . 0.023 -0.557 -1.654 . . . . . 1 1538 10 1/0 0,199,255 +rs184617204 19 55237591 A T - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution missense exon GRCh37 55237591 55237591 Chr19(GRCh37):g.55237591A>T 143 143 NM_153443.4:c.143A>T p.Gln48Leu p.Gln48Leu 3 610095 73 3' 88.5934 XI.45 0.991945 XII.57 88.5934 XI.45 0.991945 XII.77 0 Immunoglobulin Immunoglobulin subtype Immunoglobulin subtype 2 rs184617204 no no 0 0.000000 0 transversion A T A>T 0.000 -1.409 Q Gln CAG 0.744 L Leu CTG 0.404 48 7 4 Opossum -2 -2 -4 0.89 0 10.V 4.IX 85 111 113 C0 116.87 IV.86 Tolerated 0.55 3.III 186 PASS . . . . . . . . . . . ENSG00000242019:ENST00000291860:exon3:c.A143T:p.Q48L KIR3DL3:uc002qgu.1:exon3:c.A143T:p.Q48L KIR3DL3:NM_153443:exon3:c.A143T:p.Q48L . . 0.1254902 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.049 . . 255.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cTg|Q48L|KIR3DL3|mRNA|CODING|NM_153443|NM_153443.ex.3) . . . . . . . -1.5771 -1.726 -1.577 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.124 . . exonic exonic exonic . . 0.043 @ . . . 0.4 0.3 182 ENSG00000242019 KIR3DL3 KIR3DL3 . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . 0.031 . . . . T 0.004 0.001 . . 37 . 0.120 . . 0.292 . . . 0.344 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.090 . . 0.179 . . . . . . 0 0.721 . . . . . 0.048 . 0.169 . LowAF 0 . . . . . . . . . . . . . II.53 . ENST00000291860 I.79 -3.57 . 0.000000 Q8N743 . . . . . 0.015 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.911 -1.911000 . . 0.000000 . . 1.0E-186 0.000 0.063 . 0.043 0.004 . 0.018 . 0.076 -1.911 -0.168 . . . rs184617204 rs184617204 1 1538 10 1/0 0,188,255 +rs34847288 (chr19:55241209 C/T) 19 55241209 C T Transcript NM_153443.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) KIR3DL3 +rs602444 19 55246731 C T - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution missense exon GRCh37 55246731 55246731 Chr19(GRCh37):g.55246731C>T 961 961 NM_153443.4:c.961C>T p.Asn321Tyr p.Asn321Tyr 6 610095 12 3' 94.5995 11.248 0.983373 X.42 94.5995 11.248 0.986704 10.273 0.00112911 Immunoglobulin subtype rs602444 yes no Frequency/1000G 2 0.000000 0 COSM4132517|COSM4132517|COSM4132517 Thyroid|Breast|Biliary tract 0.001339|0.000408|0.002732 747|2453|366 transition C T C>T 0.004 -0.117 N Asn AAC 0.536 Y Tyr TAC 0.562 321 7 3 Mouse -2 -2 -4 I.33 0.2 11.VI 6.II 56 136 143 C15 91.35 73.82 Tolerated 0.12 3.III 255 PASS . . . . . . . . . . . ENSG00000242019:ENST00000291860:exon6:c.C961T:p.H321Y KIR3DL3:uc002qgu.1:exon6:c.C961T:p.H321Y KIR3DL3:NM_153443:exon6:c.C961T:p.H321Y . . 0.46464646 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 99.0 . . . . . . . . . . -1.0085 -1.186 -1.008 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.109 0.2350 . . . 0.2 0.25 182 ENSG00000242019 KIR3DL3 KIR3DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.029 0.002 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.077 . . . HET 0.04 . 0.228 0.275 . . . . . . . . . . III.49 . ENST00000291860 0.929 -0.622 . 0.050000 Q8N743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.127 -0.127000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.043 . . 0.090 . 0.003 -0.127 . 0.23 rs602444 rs602444 rs602444 rs602444 1 1538 10 1/0 0,255,255 +rs662386 19 55246741 T C - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution missense exon GRCh37 55246741 55246741 Chr19(GRCh37):g.55246741T>C 971 971 NM_153443.4:c.971T>C p.Val324Ala p.Val324Ala 6 610095 22 3' 94.5995 11.248 0.983373 X.42 94.5995 11.248 0.983373 X.59 0 Immunoglobulin subtype rs662386 yes no Frequency 1 0.000000 0 COSM321264|COSM321264|COSM321264|COSM321264 Lung|Central nervous system|Breast|Biliary tract 0.000419|0.000839|0.000408|0.002732 2389|2383|2453|366 transition T C T>C 0.004 0.690 V Val GTT 0.178 A Ala GCT 0.263 324 7 2 Macaque 0 0 -1 0 0 5.IX 8.I 84 31 64 C25 30.92 65.28 Deleterious 0.02 3.III 255 PASS . . . . . . . . . . . ENSG00000242019:ENST00000291860:exon6:c.T971C:p.V324A KIR3DL3:uc002qgu.1:exon6:c.T971C:p.V324A KIR3DL3:NM_153443:exon6:c.T971C:p.V324A . . 0.47368422 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.051 . @ . . . . . 1 0.059 . . 95.0 . . . . . . . . . . -0.9599 -1.085 -0.960 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.185 @ . . . 0.29 0.29 182 ENSG00000242019 KIR3DL3 KIR3DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.419 . . . 0.459 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.500 . . 0 0 0 0 0 0 . 0.135 . . 0.190 . . . . . . 0 0.359 . . . . . 0.094 . 0.193 . HET 0.1 . 0.228 0.275 . . . . . . . . . . 4.1028 . ENST00000291860 0.929 0.929 . 0.060000 Q8N743 . . . . . 0.040 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.661 0.661000 . . 0.060000 . . 1.0E-255 0.001 0.137 . 0.090 0.015 . 0.235 . 0.266 0.661 0.643 0.23 rs662386 rs662386 rs662386 rs200656314 1 1538 10 1/0 0,255,255 +. 19 55247211 T C - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution intron GRCh37 55247211 55247211 Chr19(GRCh37):g.55247211T>C 1055-76 1055-76 NM_153443.4:c.1055-76T>C p.? p.? 7 6 610095 -76 3' 85.984 11.1234 0.955413 12.1303 85.984 11.1234 0.955413 12.1078 0 transition T C T>C 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.6684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.22 0.28 182 ENSG00000215765 KIR3DL3 KIR3DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.228 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.23 rs11880171 rs11880171 rs11880171 rs11880171 1 1538 10 1/0 0,255,255 +. 19 55247364 G A - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution intron GRCh37 55247364 55247364 Chr19(GRCh37):g.55247364G>A 1107+25 1107+25 NM_153443.4:c.1107+25G>A p.? p.? 7 7 610095 25 5' 86.8647 IX.15 0.93013 8.48604 86.8647 IX.15 0.93013 8.59162 0 0.000021 0.000000 0.000000 0.000000 0.000054 0.000083 0.000018 0.000000 0.000000 0.000083 5 0 0 0 1 2 2 0 0 240306 18460 31350 8462 18448 24070 110776 23200 5540 0.000017 0.000000 0.000000 0.000000 0.000000 0.000083 0.000018 0.000000 0.000000 2 0 0 0 0 1 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.51578945 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.7299 . . . . . . . . 2.599e-05 . . . 0 3.868e-05 0 0 0 0 0 0.0002 0 3.255e-05 0 0 0 0 0 0.0002 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.23 0.31 182 ENSG00000215765 KIR3DL3 KIR3DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.859e-05 0 0 0 0 2.031e-05 0 8.309e-05 0 3.976e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs11882756 rs11882756 rs11882756 rs111522437 1 1538 10 1/0 0,255,255 +. 19 55247393 G A - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution intron GRCh37 55247393 55247393 Chr19(GRCh37):g.55247393G>A 1108-45 1108-45 NM_153443.4:c.1108-45G>A p.? p.? 8 7 610095 -45 3' 89.0625 9.91935 0.970991 XII.08 89.0625 9.91935 0.970991 XII.97 0 0.029153 0.070300 0.013300 0.000000 0.021900 0.025900 0.000042 0.000055 0.000064 0.000000 0.000000 0.000166 0.000027 0.000000 0.000000 0.000166 10 1 2 0 0 4 3 0 0 239582 18190 31300 8422 18440 24050 110350 23314 5516 0.000033 0.000000 0.000064 0.000000 0.000000 0.000166 0.000018 0.000000 0.000000 4 0 1 0 0 2 1 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 255 PASS . . . . . 0.07 0.029 0.026 . 0.022 0.013 . . . . . 0.52427185 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.5273 . . . . . . . . 6.225e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.23 0.26 182 ENSG00000215765 KIR3DL3 KIR3DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.191e-05 6.543e-05 0 0 0 3.057e-05 0 0.0002 0.0002 4.028e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs11882760 rs11882760 rs11882760 rs11882760 1 1538 10 1/0 0,255,255 +rs676354 19 55247614 T C - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution 3'UTR GRCh37 55247614 55247614 Chr19(GRCh37):g.55247614T>C *51 *51 NM_153443.4:c.*51T>C p.? p.? 8 610095 177 3' 89.0625 9.91935 0.970991 XII.08 89.0625 9.91935 0.970991 XII.08 0 Cryptic Acceptor Weakly Activated 55247617 5.38076 0.374372 75.7373 5.87356 0.294075 81.914 rs676354 yes no Frequency/1000G 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 215288 12152 30612 8208 16906 24086 98272 20352 4700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 94 Exomes transition T C T>C 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.52409637 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 166.0 . . . . . . . . . . -0.4407 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0004 . . . 0.49 0.71 182 ENSG00000215765 KIR3DL3 KIR3DL3 . uc002qgu.1:c.*51T>C NM_153443:c.*51T>C . . . 597 0.00918801 64976 595 0.00991898 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.283 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.28 rs676354 rs676354 rs676354 rs117959702 1 1538 10 1/0 0,243,255 +rs574662959 19 55250801 C G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250801 55250801 Chr19(GRCh37):g.55250801C>G 35-152 35-152 NM_015868.2:c.35-152C>G p.? p.? 2 1 604938 -152 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs574662959 yes no Frequency/1000G 2 0.035743 G 179 0.035743 0.025700 0.094100 0.006900 0.022900 0.033100 transversion C G C>G 0.665 0.125 179 PASS . . . . . 0.026 0.036 0.033 0.0069 0.023 0.094 . . . . . 0.11001965 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 509.0 . . . . . . . . . . -0.4360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0357 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,157,251 +rs574662959 19 55250801 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250801 55250801 Chr19(GRCh37):g.55250801C>G 35-152 35-152 NM_001291695.1:c.35-152C>G p.? p.? 2 1 604953 -152 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs574662959 yes no Frequency/1000G 2 0.035743 G 179 0.035743 0.025700 0.094100 0.006900 0.022900 0.033100 transversion C G C>G 0.665 0.125 179 PASS . . . . . 0.026 0.036 0.033 0.0069 0.023 0.094 . . . . . 0.11001965 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 509.0 . . . . . . . . . . -0.4360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0357 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,157,251 +rs574662959 19 55250801 C G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250801 55250801 Chr19(GRCh37):g.55250801C>G 35-152 35-152 NM_014513.2:c.35-152C>G p.? p.? 2 1 604956 -152 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs574662959 yes no Frequency/1000G 2 0.035743 G 179 0.035743 0.025700 0.094100 0.006900 0.022900 0.033100 transversion C G C>G 0.665 0.125 179 PASS . . . . . 0.026 0.036 0.033 0.0069 0.023 0.094 . . . . . 0.11001965 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 509.0 . . . . . . . . . . -0.4360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0357 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,157,251 +rs878933104 19 55250823 T C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250823 55250823 Chr19(GRCh37):g.55250823T>C 35-130 35-130 NM_015868.2:c.35-130T>C p.? p.? 2 1 604938 -130 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878933104 no no 0 0.000000 0 transition T C T>C 0.173 -3.588 194 PASS . . . . . . . . . . . . . . . . 0.14376996 . . @ 90 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 626.0 . . . . . . . . . . -1.1671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,232 +rs878933104 19 55250823 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250823 55250823 Chr19(GRCh37):g.55250823T>C 35-130 35-130 NM_001291695.1:c.35-130T>C p.? p.? 2 1 604953 -130 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878933104 no no 0 0.000000 0 transition T C T>C 0.173 -3.588 194 PASS . . . . . . . . . . . . . . . . 0.14376996 . . @ 90 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 626.0 . . . . . . . . . . -1.1671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,232 +rs878933104 19 55250823 T C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250823 55250823 Chr19(GRCh37):g.55250823T>C 35-130 35-130 NM_014513.2:c.35-130T>C p.? p.? 2 1 604956 -130 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs878933104 no no 0 0.000000 0 transition T C T>C 0.173 -3.588 194 PASS . . . . . . . . . . . . . . . . 0.14376996 . . @ 90 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 626.0 . . . . . . . . . . -1.1671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,232 +rs878999246 19 55250843 A C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250843 55250843 Chr19(GRCh37):g.55250843A>C 35-110 35-110 NM_015868.2:c.35-110A>C p.? p.? 2 1 604938 -110 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878999246 no no 0 0.000000 0 transversion A C A>C 0.205 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.34708393 . . @ 244 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 703.0 . . . . . . . . . . -0.7767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,162,197 +rs878999246 19 55250843 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250843 55250843 Chr19(GRCh37):g.55250843A>C 35-110 35-110 NM_001291695.1:c.35-110A>C p.? p.? 2 1 604953 -110 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878999246 no no 0 0.000000 0 transversion A C A>C 0.205 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.34708393 . . @ 244 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 703.0 . . . . . . . . . . -0.7767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,162,197 +rs878999246 19 55250843 A C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250843 55250843 Chr19(GRCh37):g.55250843A>C 35-110 35-110 NM_014513.2:c.35-110A>C p.? p.? 2 1 604956 -110 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs878999246 no no 0 0.000000 0 transversion A C A>C 0.205 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.34708393 . . @ 244 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 703.0 . . . . . . . . . . -0.7767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,162,197 +. 19 55250849 A G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250849 55250849 Chr19(GRCh37):g.55250849A>G 35-104 35-104 NM_015868.2:c.35-104A>G p.? p.? 2 1 604938 -104 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 Cryptic Acceptor Strongly Activated 55250856 0.00601 3.45905 0.01036 77.9275 rs933659433 no no 0 0.000000 0 transition A G A>G 0.150 0.367 199 PASS . . . . . . . . . . . . . . . . 0.15598886 . . @ 112 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 718.0 . . . . . . . . . . -0.3118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,235 +. 19 55250849 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250849 55250849 Chr19(GRCh37):g.55250849A>G 35-104 35-104 NM_001291695.1:c.35-104A>G p.? p.? 2 1 604953 -104 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 Cryptic Acceptor Strongly Activated 55250856 0.00601 3.45905 0.01036 77.9275 rs933659433 no no 0 0.000000 0 transition A G A>G 0.150 0.367 199 PASS . . . . . . . . . . . . . . . . 0.15598886 . . @ 112 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 718.0 . . . . . . . . . . -0.3118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,235 +. 19 55250849 A G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250849 55250849 Chr19(GRCh37):g.55250849A>G 35-104 35-104 NM_014513.2:c.35-104A>G p.? p.? 2 1 604956 -104 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 Cryptic Acceptor Strongly Activated 55250856 0.00601 3.45905 0.01036 77.9275 rs933659433 no no 0 0.000000 0 transition A G A>G 0.150 0.367 199 PASS . . . . . . . . . . . . . . . . 0.15598886 . . @ 112 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 718.0 . . . . . . . . . . -0.3118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,235 +rs878876440 19 55250856 G C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250856 55250856 Chr19(GRCh37):g.55250856G>C 35-97 35-97 NM_015868.2:c.35-97G>C p.? p.? 2 1 604938 -97 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878876440 no no 0 0.000000 0 transversion G C G>C 0.031 -2.377 223 PASS . . . . . . . . . . . . . . . . 0.22164276 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 767.0 . . . . . . . . . . -0.8628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,149,214 +rs878876440 19 55250856 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250856 55250856 Chr19(GRCh37):g.55250856G>C 35-97 35-97 NM_001291695.1:c.35-97G>C p.? p.? 2 1 604953 -97 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878876440 no no 0 0.000000 0 transversion G C G>C 0.031 -2.377 223 PASS . . . . . . . . . . . . . . . . 0.22164276 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 767.0 . . . . . . . . . . -0.8628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,149,214 +rs878876440 19 55250856 G C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250856 55250856 Chr19(GRCh37):g.55250856G>C 35-97 35-97 NM_014513.2:c.35-97G>C p.? p.? 2 1 604956 -97 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs878876440 no no 0 0.000000 0 transversion G C G>C 0.031 -2.377 223 PASS . . . . . . . . . . . . . . . . 0.22164276 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 767.0 . . . . . . . . . . -0.8628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,149,214 +rs200013507 19 55250869 G A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250869 55250869 Chr19(GRCh37):g.55250869G>A 35-84 35-84 NM_015868.2:c.35-84G>A p.? p.? 2 1 604938 -84 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs200013507 yes no Frequency/1000G 2 0.000000 0 0.040934 0.074900 0.067500 0.002000 0.017900 0.028800 0.000651 0.002370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002370 16 16 0 0 0 0 0 0 0 24590 6752 712 228 1496 0 11532 3082 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 16 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition G A G>A 0.118 -1.893 255 PASS . . . . . 0.075 0.041 0.029 0.002 0.018 0.068 . . . . . 0.40550688 . . @ 324 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 799.0 . . . . . . . . . . -0.9801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0409 . . . 0.46 0.22 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0007 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200013507 rs200013507 1 1538 10 1/0 0,163,192 +rs200013507 19 55250869 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250869 55250869 Chr19(GRCh37):g.55250869G>A 35-84 35-84 NM_001291695.1:c.35-84G>A p.? p.? 2 1 604953 -84 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs200013507 yes no Frequency/1000G 2 0.000000 0 0.040934 0.074900 0.067500 0.002000 0.017900 0.028800 0.000651 0.002370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002370 16 16 0 0 0 0 0 0 0 24590 6752 712 228 1496 0 11532 3082 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 16 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition G A G>A 0.118 -1.893 255 PASS . . . . . 0.075 0.041 0.029 0.002 0.018 0.068 . . . . . 0.40550688 . . @ 324 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 799.0 . . . . . . . . . . -0.9801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0409 . . . 0.46 0.22 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0007 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200013507 rs200013507 1 1538 10 1/0 0,163,192 +rs200013507 19 55250869 G A - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250869 55250869 Chr19(GRCh37):g.55250869G>A 35-84 35-84 NM_014513.2:c.35-84G>A p.? p.? 2 1 604956 -84 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs200013507 yes no Frequency/1000G 2 0.000000 0 0.040934 0.074900 0.067500 0.002000 0.017900 0.028800 0.000651 0.002370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002370 16 16 0 0 0 0 0 0 0 24590 6752 712 228 1496 0 11532 3082 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 16 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition G A G>A 0.118 -1.893 255 PASS . . . . . 0.075 0.041 0.029 0.002 0.018 0.068 . . . . . 0.40550688 . . @ 324 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 799.0 . . . . . . . . . . -0.9801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0409 . . . 0.46 0.22 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0007 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200013507 rs200013507 1 1538 10 1/0 0,163,192 +rs796867134 19 55250885 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250885 55250885 Chr19(GRCh37):g.55250885C>T 35-68 35-68 NM_015868.2:c.35-68C>T p.? p.? 2 1 604938 -68 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.1891 0 rs796867134 no no 0 0.000000 0 transition C T C>T 0.071 -0.037 195 PASS . . . . . . . . . . . . . . . . 0.15855181 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 801.0 . . . . . . . . . . -0.3395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,236 +rs796867134 19 55250885 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250885 55250885 Chr19(GRCh37):g.55250885C>T 35-68 35-68 NM_001291695.1:c.35-68C>T p.? p.? 2 1 604953 -68 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.1891 0 rs796867134 no no 0 0.000000 0 transition C T C>T 0.071 -0.037 195 PASS . . . . . . . . . . . . . . . . 0.15855181 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 801.0 . . . . . . . . . . -0.3395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,236 +rs796867134 19 55250885 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250885 55250885 Chr19(GRCh37):g.55250885C>T 35-68 35-68 NM_014513.2:c.35-68C>T p.? p.? 2 1 604956 -68 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.64184 0 rs796867134 no no 0 0.000000 0 transition C T C>T 0.071 -0.037 195 PASS . . . . . . . . . . . . . . . . 0.15855181 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 801.0 . . . . . . . . . . -0.3395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,236 +rs370863322 19 55250893 G A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250893 55250893 Chr19(GRCh37):g.55250893G>A 35-60 35-60 NM_015868.2:c.35-60G>A p.? p.? 2 1 604938 -60 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.16778 0 rs370863322 no no 0 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000000 0.000000 0.000166 0.000000 0.000000 0.000166 2 0 0 0 0 0 2 0 0 25836 7310 732 230 1528 0 12064 3154 818 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 31 Genomes transition G A G>A 0.031 -0.037 196 PASS . . . . . . . . . . . . . . . . 0.16273291 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 805.0 . . . . . . . . . . -0.3176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.741e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs370863322 rs370863322 1 1538 10 1/0 0,142,237 +rs370863322 19 55250893 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250893 55250893 Chr19(GRCh37):g.55250893G>A 35-60 35-60 NM_001291695.1:c.35-60G>A p.? p.? 2 1 604953 -60 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.16778 0 rs370863322 no no 0 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000000 0.000000 0.000166 0.000000 0.000000 0.000166 2 0 0 0 0 0 2 0 0 25836 7310 732 230 1528 0 12064 3154 818 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 31 Genomes transition G A G>A 0.031 -0.037 196 PASS . . . . . . . . . . . . . . . . 0.16273291 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 805.0 . . . . . . . . . . -0.3176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.741e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs370863322 rs370863322 1 1538 10 1/0 0,142,237 +rs370863322 19 55250893 G A - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250893 55250893 Chr19(GRCh37):g.55250893G>A 35-60 35-60 NM_014513.2:c.35-60G>A p.? p.? 2 1 604956 -60 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.62051 0 rs370863322 no no 0 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000000 0.000000 0.000166 0.000000 0.000000 0.000166 2 0 0 0 0 0 2 0 0 25836 7310 732 230 1528 0 12064 3154 818 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 31 Genomes transition G A G>A 0.031 -0.037 196 PASS . . . . . . . . . . . . . . . . 0.16273291 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 805.0 . . . . . . . . . . -0.3176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.741e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs370863322 rs370863322 1 1538 10 1/0 0,142,237 +rs374283457 19 55250894 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250894 55250894 Chr19(GRCh37):g.55250894C>T 35-59 35-59 NM_015868.2:c.35-59C>T p.? p.? 2 1 604938 -59 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.50601 0 rs374283457 yes no Frequency/1000G 2 0.000000 0 0.027356 0.016600 0.077700 0.003000 0.019900 0.023100 transition C T C>T 0.024 0.125 202 PASS . . . . . 0.017 0.027 0.023 0.003 0.02 0.078 . . . . . 0.16393442 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 793.0 . . . . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0274 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs374283457 rs374283457 1 1538 10 1/0 0,142,236 +rs374283457 19 55250894 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250894 55250894 Chr19(GRCh37):g.55250894C>T 35-59 35-59 NM_001291695.1:c.35-59C>T p.? p.? 2 1 604953 -59 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.50601 0 rs374283457 yes no Frequency/1000G 2 0.000000 0 0.027356 0.016600 0.077700 0.003000 0.019900 0.023100 transition C T C>T 0.024 0.125 202 PASS . . . . . 0.017 0.027 0.023 0.003 0.02 0.078 . . . . . 0.16393442 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 793.0 . . . . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0274 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs374283457 rs374283457 1 1538 10 1/0 0,142,236 +rs374283457 19 55250894 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250894 55250894 Chr19(GRCh37):g.55250894C>T 35-59 35-59 NM_014513.2:c.35-59C>T p.? p.? 2 1 604956 -59 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.95874 0 rs374283457 yes no Frequency/1000G 2 0.000000 0 0.027356 0.016600 0.077700 0.003000 0.019900 0.023100 transition C T C>T 0.024 0.125 202 PASS . . . . . 0.017 0.027 0.023 0.003 0.02 0.078 . . . . . 0.16393442 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 793.0 . . . . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0274 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs374283457 rs374283457 1 1538 10 1/0 0,142,236 +rs113110613 19 55250902 G A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250902 55250902 Chr19(GRCh37):g.55250902G>A 35-51 35-51 NM_015868.2:c.35-51G>A p.? p.? 2 1 604938 -51 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.08507 0 rs113110613 yes no Frequency 1 0.000000 0 transition G A G>A 0.008 -0.037 207 PASS . . . . . . . . . . . . . . . . 0.17490494 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 789.0 . . . . . . . . . . -0.3383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.46 0.26 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs113110613 rs113110613 1 1538 10 1/0 0,144,236 +rs113110613 19 55250902 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250902 55250902 Chr19(GRCh37):g.55250902G>A 35-51 35-51 NM_001291695.1:c.35-51G>A p.? p.? 2 1 604953 -51 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.08507 0 rs113110613 yes no Frequency 1 0.000000 0 transition G A G>A 0.008 -0.037 207 PASS . . . . . . . . . . . . . . . . 0.17490494 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 789.0 . . . . . . . . . . -0.3383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.46 0.26 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs113110613 rs113110613 1 1538 10 1/0 0,144,236 +rs113110613 19 55250902 G A - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250902 55250902 Chr19(GRCh37):g.55250902G>A 35-51 35-51 NM_014513.2:c.35-51G>A p.? p.? 2 1 604956 -51 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 V.78 0 rs113110613 yes no Frequency 1 0.000000 0 transition G A G>A 0.008 -0.037 207 PASS . . . . . . . . . . . . . . . . 0.17490494 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 789.0 . . . . . . . . . . -0.3383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.46 0.26 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs113110613 rs113110613 1 1538 10 1/0 0,144,236 +rs630832 19 55250906 C G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250906 55250906 Chr19(GRCh37):g.55250906C>G 35-47 35-47 NM_015868.2:c.35-47C>G p.? p.? 2 1 604938 -47 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.38764 0 rs630832 yes no Frequency 1 0.000000 0 0.000017 0.000051 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000051 4 1 0 0 0 0 3 0 0 233858 19662 29448 7986 18048 23172 107048 23202 5292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.016 -0.763 228 PASS . . . . . . . . . . . . . . . . 0.23636363 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 770.0 . . . . . . . . . . -0.3571 . . . . . . . . 2.599e-05 . . . . . . . . . . . 0 3.331e-05 0 0 0 6.509e-05 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.25 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.445e-05 0 0 0 0 3.165e-05 0 0 0.0001 3.814e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.17 rs630832 rs630832 rs630832 rs201928124 1 1538 10 1/0 0,151,233 +rs630832 19 55250906 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250906 55250906 Chr19(GRCh37):g.55250906C>G 35-47 35-47 NM_001291695.1:c.35-47C>G p.? p.? 2 1 604953 -47 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.38764 0 rs630832 yes no Frequency 1 0.000000 0 0.000017 0.000051 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000051 4 1 0 0 0 0 3 0 0 233858 19662 29448 7986 18048 23172 107048 23202 5292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.016 -0.763 228 PASS . . . . . . . . . . . . . . . . 0.23636363 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 770.0 . . . . . . . . . . -0.3571 . . . . . . . . 2.599e-05 . . . . . . . . . . . 0 3.331e-05 0 0 0 6.509e-05 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.25 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.445e-05 0 0 0 0 3.165e-05 0 0 0.0001 3.814e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.17 rs630832 rs630832 rs630832 rs201928124 1 1538 10 1/0 0,151,233 +rs630832 19 55250906 C G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250906 55250906 Chr19(GRCh37):g.55250906C>G 35-47 35-47 NM_014513.2:c.35-47C>G p.? p.? 2 1 604956 -47 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.84037 0 rs630832 yes no Frequency 1 0.000000 0 0.000017 0.000051 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000051 4 1 0 0 0 0 3 0 0 233858 19662 29448 7986 18048 23172 107048 23202 5292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.016 -0.763 228 PASS . . . . . . . . . . . . . . . . 0.23636363 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 770.0 . . . . . . . . . . -0.3571 . . . . . . . . 2.599e-05 . . . . . . . . . . . 0 3.331e-05 0 0 0 6.509e-05 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.25 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.445e-05 0 0 0 0 3.165e-05 0 0 0.0001 3.814e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.17 rs630832 rs630832 rs630832 rs201928124 1 1538 10 1/0 0,151,233 +rs630843 19 55250913 T C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250913 55250913 Chr19(GRCh37):g.55250913T>C 35-40 35-40 NM_015868.2:c.35-40T>C p.? p.? 2 1 604938 -40 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.20492 0 Cryptic Donor Strongly Activated 55250909 0.724257 0.005875 65.6611 1.73327 0.015457 65.0494 rs630843 yes no Frequency 1 0.000000 0 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000081 0.000000 0.000000 0.000081 1 0 0 0 0 0 1 0 0 26376 7502 744 236 1550 0 12312 3196 836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.110 0.932 225 PASS . . . . . . . . . . . . . . . . 0.22636485 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 751.0 . . . . . . . . . . -0.2981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.29 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.791e-05 0 0 0 0 8.122e-05 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . 0.17 rs630843 rs630843 rs630843 rs200532192 1 1538 10 1/0 0,151,237 +rs630843 19 55250913 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250913 55250913 Chr19(GRCh37):g.55250913T>C 35-40 35-40 NM_001291695.1:c.35-40T>C p.? p.? 2 1 604953 -40 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.20492 0 Cryptic Donor Strongly Activated 55250909 0.724257 0.005875 65.6611 1.73327 0.015457 65.0494 rs630843 yes no Frequency 1 0.000000 0 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000081 0.000000 0.000000 0.000081 1 0 0 0 0 0 1 0 0 26376 7502 744 236 1550 0 12312 3196 836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.110 0.932 225 PASS . . . . . . . . . . . . . . . . 0.22636485 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 751.0 . . . . . . . . . . -0.2981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.29 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.791e-05 0 0 0 0 8.122e-05 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . 0.17 rs630843 rs630843 rs630843 rs200532192 1 1538 10 1/0 0,151,237 +rs630843 19 55250913 T C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250913 55250913 Chr19(GRCh37):g.55250913T>C 35-40 35-40 NM_014513.2:c.35-40T>C p.? p.? 2 1 604956 -40 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.65765 0 Cryptic Donor Strongly Activated 55250909 0.724257 0.005875 65.6611 1.73327 0.015457 65.0494 rs630843 yes no Frequency 1 0.000000 0 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000081 0.000000 0.000000 0.000081 1 0 0 0 0 0 1 0 0 26376 7502 744 236 1550 0 12312 3196 836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.110 0.932 225 PASS . . . . . . . . . . . . . . . . 0.22636485 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 751.0 . . . . . . . . . . -0.2981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.29 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.791e-05 0 0 0 0 8.122e-05 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . 0.17 rs630843 rs630843 rs630843 rs200532192 1 1538 10 1/0 0,151,237 +. 19 55253465 C G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55253465 55253465 Chr19(GRCh37):g.55253465C>G 110 110 NM_015868.2:c.110C>G p.Pro37Arg p.Pro37Arg 3 604938 40 3' 80.8813 8.86552 0.902226 X.89 80.8813 8.86552 0.902226 11.0304 0 Immunoglobulin subtype 0.000154 0.000000 0.000000 0.000000 0.000061 0.001357 0.000000 0.000000 0.000000 0.001357 31 0 0 0 1 30 0 0 0 200962 11926 28140 7224 16464 22100 91354 19372 4382 0.322581 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 0.000000 10 0 0 0 0 10 0 0 0 11 0 0 0 1 10 0 0 0 0 0 0 0 0 0 0 0 0 RF 52 Exomes COSM4132522 Thyroid 0.002677 747 transversion C G C>G 0.000 0.205 P Pro CCC 0.328 R Arg CGC 0.190 37 7 6 Platypus -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C15 73.35 95.06 Deleterious 0.01 II.97 bad 5.578E-6 0.002885 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.C110G:p.P37R . . 0.42713568 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.059 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P37R|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.0387 -1.208 -1.039 c . . . . . 9.769e-05 . . . 0 5.031e-05 0 0 0 0 0 0.0004 0 4.164e-05 0 0 0 0 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.161 @ . . . 0.2 0.16 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.071 . . 0.197 . . . 0.843 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.876 . . 0 0 0 0 0 0 . 0.318 . . 0.288 . . . . . . 0 0.231 . . . . . 0.180 . 0.311 . HET 0.11 . . . . . . . . . . . . . V.58 . . 1.VI 0.507 . 0.150000 . . . . . . 0.055 . . . 0 0.0002 0 0 6.074e-05 0 0 0 0.0014 . . . . . . . . . . 0.133 . 0.253 0.253000 . . 0.150000 . . 1.0E-255 0.004 0.165 . 0.074 0.209 . 0.388 . 0.270 0.253 0.143 . rs613240 rs613240 rs613240 rs201272358 1 1538 10 1/0 0,222,241 +. 19 55253465 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55253465 55253465 Chr19(GRCh37):g.55253465C>G 110 110 NM_001291695.1:c.110C>G p.Pro37Arg p.Pro37Arg 3 604953 40 3' 80.8813 8.86552 0.902226 X.89 80.8813 8.86552 0.902226 11.0304 0 0.000154 0.000000 0.000000 0.000000 0.000061 0.001357 0.000000 0.000000 0.000000 0.001357 31 0 0 0 1 30 0 0 0 200962 11926 28140 7224 16464 22100 91354 19372 4382 0.322581 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 0.000000 10 0 0 0 0 10 0 0 0 11 0 0 0 1 10 0 0 0 0 0 0 0 0 0 0 0 0 RF 52 Exomes COSM4132522 Thyroid 0.002677 747 transversion C G C>G 0.000 0.205 P Pro CCC 0.328 R Arg CGC 0.190 37 11 7 Armadillo -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 244.67 0.00 Tolerated 0.86 II.86 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.C110G:p.P37R . . 0.42713568 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.059 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P37R|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.0387 -1.208 -1.039 c . . . . . 9.769e-05 . . . 0 5.031e-05 0 0 0 0 0 0.0004 0 4.164e-05 0 0 0 0 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.161 @ . . . 0.2 0.16 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.071 . . 0.197 . . . 0.843 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.876 . . 0 0 0 0 0 0 . 0.318 . . 0.288 . . . . . . 0 0.231 . . . . . 0.180 . 0.311 . HET 0.11 . . . . . . . . . . . . . V.58 . . 1.VI 0.507 . 0.150000 . . . . . . 0.055 . . . 0 0.0002 0 0 6.074e-05 0 0 0 0.0014 . . . . . . . . . . 0.133 . 0.253 0.253000 . . 0.150000 . . 1.0E-255 0.004 0.165 . 0.074 0.209 . 0.388 . 0.270 0.253 0.143 . rs613240 rs613240 rs613240 rs201272358 1 1538 10 1/0 0,222,241 +. 19 55253465 C G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution missense exon GRCh37 55253465 55253465 Chr19(GRCh37):g.55253465C>G 110 110 NM_014513.2:c.110C>G p.Pro37Arg p.Pro37Arg 3 604956 40 3' 80.8813 9.57447 0.964672 XI.22 80.8813 9.57447 0.964672 12.0337 0 Immunoglobulin subtype 0.000154 0.000000 0.000000 0.000000 0.000061 0.001357 0.000000 0.000000 0.000000 0.001357 31 0 0 0 1 30 0 0 0 200962 11926 28140 7224 16464 22100 91354 19372 4382 0.322581 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 0.000000 10 0 0 0 0 10 0 0 0 11 0 0 0 1 10 0 0 0 0 0 0 0 0 0 0 0 0 RF 52 Exomes COSM4132522 Thyroid 0.002677 747 transversion C G C>G 0.000 0.205 P Pro CCC 0.328 R Arg CGC 0.190 37 -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.C110G:p.P37R . . 0.42713568 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.059 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P37R|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.0387 -1.208 -1.039 c . . . . . 9.769e-05 . . . 0 5.031e-05 0 0 0 0 0 0.0004 0 4.164e-05 0 0 0 0 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.161 @ . . . 0.2 0.16 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.071 . . 0.197 . . . 0.843 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.876 . . 0 0 0 0 0 0 . 0.318 . . 0.288 . . . . . . 0 0.231 . . . . . 0.180 . 0.311 . HET 0.11 . . . . . . . . . . . . . V.58 . . 1.VI 0.507 . 0.150000 . . . . . . 0.055 . . . 0 0.0002 0 0 6.074e-05 0 0 0 0.0014 . . . . . . . . . . 0.133 . 0.253 0.253000 . . 0.150000 . . 1.0E-255 0.004 0.165 . 0.074 0.209 . 0.388 . 0.270 0.253 0.143 . rs613240 rs613240 rs613240 rs201272358 1 1538 10 1/0 0,222,241 +rs34790392 19 55253544 A G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution synonymous exon GRCh37 55253544 55253544 Chr19(GRCh37):g.55253544A>G 189 189 NM_015868.2:c.189A>G p.Glu63= p.Glu63Glu 3 604938 119 3' 80.8813 8.86552 0.902226 X.89 80.8813 8.86552 0.902226 X.89 0 Immunoglobulin Immunoglobulin subtype rs34790392 yes no Frequency 1 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000118 0.000000 0.000000 0.000000 0.000000 0.000118 2 0 0 0 2 0 0 0 0 222294 13684 31104 8452 16904 25058 101326 20902 4864 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 66 Exomes transition A G A>G 0.000 -0.602 E Glu GAA 0.417 E Glu GAG 0.583 63 248 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.A189G:p.E63E . . 0.29758713 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 373.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E63|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -0.4860 . . . . . . . . 8.467e-06 . . . . . . . . . . . 0 1.048e-05 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.17 0.19 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.997e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . rs34790392 rs34790392 rs633870 rs34790392 1 1538 10 1/0 0,187,234 +rs34790392 (chr19:55253544 A/G) 19 55253544 A G Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs34790392 (chr19:55253544 A/G) 19 55253544 A G Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs78713511 19 55253552 T A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55253552 55253552 Chr19(GRCh37):g.55253552T>A 197 197 NM_015868.2:c.197T>A p.Phe66Tyr p.Phe66Tyr 3 604938 127 3' 80.8813 8.86552 0.902226 X.89 80.8813 8.86552 0.902226 X.89 0 Immunoglobulin Immunoglobulin subtype rs78713511 yes no Frequency 1 0.000000 0 COSM321259|COSM321259|COSM321259 Thyroid|Lung|Central nervous system 0.001339|0.000419|0.000416 747|2388|2405 transversion T A T>A 0.000 -1.247 F Phe TTT 0.454 Y Tyr TAT 0.438 66 7 1 3 3 4 0 0.2 5.II 6.II 132 136 22 C0 156.90 4.V Tolerated 1 II.97 good 5.625E-1 0.5694 243 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.T197A:p.F66Y . . 0.28132993 . . @ 110 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.040 . . 391.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F66Y|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.5191 -1.709 -1.519 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.048 @ . . . 0.18 0.26 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.230 . . 0.293 . . . 0.440 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.160 . . 0 0 0 0 0 0 . 0.067 . . 0.170 . . . . . . 0 0.281 . . . . . 0.225 . 0.171 . HET 0.2 . . 0.007 . . . . . . . . . . VI.05 . . 1.VI -3.21 . 0.080000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.218 -1.218000 . . 0.080000 . . 1.0E-243 0.000 0.063 . 0.016 0.000 . 0.009 . 0.006 -1.218 -1.276 . rs673568 rs673568 rs673568 rs673568 1 1538 10 1/0 0,183,237 +rs78713511 (chr19:55253552 T/A) 19 55253552 T A Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs78713511 19 55253552 T A - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution missense exon GRCh37 55253552 55253552 Chr19(GRCh37):g.55253552T>A 197 197 NM_014513.2:c.197T>A p.Phe66Tyr p.Phe66Tyr 3 604956 127 3' 80.8813 9.57447 0.964672 XI.22 80.8813 9.57447 0.964672 XI.22 0 Immunoglobulin Immunoglobulin subtype rs78713511 yes no Frequency 1 0.000000 0 COSM321259|COSM321259|COSM321259 Thyroid|Lung|Central nervous system 0.001339|0.000419|0.000416 747|2388|2405 transversion T A T>A 0.000 -1.247 F Phe TTT 0.454 Y Tyr TAT 0.438 66 3 3 4 0 0.2 5.II 6.II 132 136 22 243 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.T197A:p.F66Y . . 0.28132993 . . @ 110 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.040 . . 391.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F66Y|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.5191 -1.709 -1.519 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.048 @ . . . 0.18 0.26 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.230 . . 0.293 . . . 0.440 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.160 . . 0 0 0 0 0 0 . 0.067 . . 0.170 . . . . . . 0 0.281 . . . . . 0.225 . 0.171 . HET 0.2 . . 0.007 . . . . . . . . . . VI.05 . . 1.VI -3.21 . 0.080000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.218 -1.218000 . . 0.080000 . . 1.0E-243 0.000 0.063 . 0.016 0.000 . 0.009 . 0.006 -1.218 -1.276 . rs673568 rs673568 rs673568 rs673568 1 1538 10 1/0 0,183,237 +rs35927204 19 55253760 A C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55253760 55253760 Chr19(GRCh37):g.55253760A>C 370+35 370+35 NM_015868.2:c.370+35A>C p.? p.? 3 3 604938 35 5' 90.3087 9.21919 0.949251 8.92608 90.3087 9.21919 0.949251 9.21531 0 Cryptic Acceptor Strongly Activated 55253766 3.297 0.010743 75.5491 4.92568 0.148931 79.4055 rs35927204 no no 0 0.000000 0 transversion A C A>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.81543624 . . @ 243 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 298.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.2489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.25 0.12 182 ENSG00000215765 . KIR2DL3 . . . . . . 512 0.00787983 64976 512 0.00853532 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.098 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs35927204 rs35927204 rs35927204 rs144892307 1 1538 10 1/0 0,229,227 +rs35927204 19 55253760 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55253760 55253760 Chr19(GRCh37):g.55253760A>C 370+35 370+35 NM_001291695.1:c.370+35A>C p.? p.? 3 3 604953 35 5' 90.3087 9.21919 0.949251 8.92608 90.3087 9.21919 0.949251 9.21531 0 Cryptic Acceptor Strongly Activated 55253766 3.297 0.010743 75.5491 4.92568 0.148931 79.4055 rs35927204 no no 0 0.000000 0 transversion A C A>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.81543624 . . @ 243 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 298.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.2489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.25 0.12 182 ENSG00000215765 . KIR2DL3 . . . . . . 512 0.00787983 64976 512 0.00853532 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.098 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs35927204 rs35927204 rs35927204 rs144892307 1 1538 10 1/0 0,229,227 +rs35927204 19 55253760 A C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55253760 55253760 Chr19(GRCh37):g.55253760A>C 370+35 370+35 NM_014513.2:c.370+35A>C p.? p.? 3 3 604956 35 5' 90.3087 9.21919 0.949251 IX.82 90.3087 9.21919 0.949251 9.48743 0 Cryptic Acceptor Strongly Activated 55253766 3.297 0.010743 75.5491 4.92568 0.148931 79.4055 rs35927204 no no 0 0.000000 0 transversion A C A>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.81543624 . . @ 243 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 298.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.2489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.25 0.12 182 ENSG00000215765 . KIR2DL3 . . . . . . 512 0.00787983 64976 512 0.00853532 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.098 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs35927204 rs35927204 rs35927204 rs144892307 1 1538 10 1/0 0,229,227 +. 19 55255216 G C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55255216 55255216 Chr19(GRCh37):g.55255216G>C 371-27 371-27 NM_015868.2:c.371-27G>C p.? p.? 4 3 604938 -27 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 9.14958 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182386 11046 21806 6422 14936 19382 88102 16816 3876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transversion G C G>C 0.000 -0.037 242 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.4724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.44 0.34 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs1743326 rs1743326 rs1743326 rs1743326 1 1538 10 1/0 0,255,255 +. 19 55255216 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55255216 55255216 Chr19(GRCh37):g.55255216G>C 371-27 371-27 NM_001291695.1:c.371-27G>C p.? p.? 4 3 604953 -27 3' 92.4295 X.52 0.966596 7.95657 92.4295 X.52 0.966596 VIII.84 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182386 11046 21806 6422 14936 19382 88102 16816 3876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transversion G C G>C 0.000 -0.037 242 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.4724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.44 0.34 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs1743326 rs1743326 rs1743326 rs1743326 1 1538 10 1/0 0,255,255 +. 19 55255216 G C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55255216 55255216 Chr19(GRCh37):g.55255216G>C 371-27 371-27 NM_014513.2:c.371-27G>C p.? p.? 4 3 604956 -27 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 9.14958 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182386 11046 21806 6422 14936 19382 88102 16816 3876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transversion G C G>C 0.000 -0.037 242 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.4724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.44 0.34 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs1743326 rs1743326 rs1743326 rs1743326 1 1538 10 1/0 0,255,255 +rs796348289 19 55255218 A G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55255218 55255218 Chr19(GRCh37):g.55255218A>G 371-25 371-25 NM_015868.2:c.371-25A>G p.? p.? 4 3 604938 -25 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 8.21493 0 rs796348289 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 183442 11058 21822 6486 14946 19498 88590 17152 3890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition A G A>G 0.000 -2.861 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.9870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.29 0.29 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs1654629 rs1654629 rs1654629 rs1654629 1 1538 10 1/0 0,255,255 +rs796348289 19 55255218 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55255218 55255218 Chr19(GRCh37):g.55255218A>G 371-25 371-25 NM_001291695.1:c.371-25A>G p.? p.? 4 3 604953 -25 3' 92.4295 X.52 0.966596 7.95657 92.4295 X.52 0.966596 7.44374 0 rs796348289 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 183442 11058 21822 6486 14946 19498 88590 17152 3890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition A G A>G 0.000 -2.861 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.9870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.29 0.29 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs1654629 rs1654629 rs1654629 rs1654629 1 1538 10 1/0 0,255,255 +rs796348289 19 55255218 A G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55255218 55255218 Chr19(GRCh37):g.55255218A>G 371-25 371-25 NM_014513.2:c.371-25A>G p.? p.? 4 3 604956 -25 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 8.21493 0 rs796348289 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 183442 11058 21822 6486 14946 19498 88590 17152 3890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition A G A>G 0.000 -2.861 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.9870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.29 0.29 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs1654629 rs1654629 rs1654629 rs1654629 1 1538 10 1/0 0,255,255 +. 19 55255237 C CT - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 duplication splice site GRCh37 55255238 55255239 Chr19(GRCh37):g.55255238dup 371-5 371-5 NM_015868.2:c.371-5dup p.? p.? 4 3 604938 -4 3' 92.4295 X.52 0.966596 8.72775 95.1486 12.728 0.990943 13.0244 0.0965721 rs762937109 no no 0 0.000000 0 0.000405 0.001476 0.000000 0.000000 0.000000 0.000000 0.000082 0.000000 0.000000 0.001476 10 9 0 0 0 0 1 0 0 24674 6098 728 238 1540 0 12122 3126 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 9 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.25316456 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0004 0 0 0 0 8.249e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,9,60 +. 19 55255237 C CT - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 duplication splice site GRCh37 55255238 55255239 Chr19(GRCh37):g.55255238dup 371-5 371-5 NM_001291695.1:c.371-5dup p.? p.? 4 3 604953 -4 3' 92.4295 X.52 0.966596 7.95657 95.1486 12.728 0.990943 XII.32 0.0965721 rs762937109 no no 0 0.000000 0 0.000405 0.001476 0.000000 0.000000 0.000000 0.000000 0.000082 0.000000 0.000000 0.001476 10 9 0 0 0 0 1 0 0 24674 6098 728 238 1540 0 12122 3126 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 9 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.25316456 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0004 0 0 0 0 8.249e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,9,60 +. 19 55255237 C CT - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 duplication splice site GRCh37 55255238 55255239 Chr19(GRCh37):g.55255238dup 371-5 371-5 NM_014513.2:c.371-5dup p.? p.? 4 3 604956 -4 3' 92.4295 X.52 0.966596 8.72775 95.1486 12.728 0.990943 13.0244 0.0965721 rs762937109 no no 0 0.000000 0 0.000405 0.001476 0.000000 0.000000 0.000000 0.000000 0.000082 0.000000 0.000000 0.001476 10 9 0 0 0 0 1 0 0 24674 6098 728 238 1540 0 12122 3126 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 9 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.25316456 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0004 0 0 0 0 8.249e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,9,60 +rs377026641 19 55255290 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution synonymous exon GRCh37 55255290 55255290 Chr19(GRCh37):g.55255290C>T 418 418 NM_015868.2:c.418C>T p.Leu140= p.Leu140Leu 4 604938 48 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 7.95657 0 Immunoglobulin subtype rs377026641 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 203170 17130 20580 6432 15936 19000 98484 21046 4562 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3766434|COSM3766434 Thyroid|Liver 0.002677|0.000422 747|2371 transition C T C>T 0.000 -1.651 L Leu CTG 0.404 L Leu TTG 0.127 140 197 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C418T:p.L140L . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L140|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -0.4779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.37 182 ENSG00000243772 . KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.011 rs662465 rs662465 rs662465 rs377026641 1 1538 10 1/0 0,202,255 +rs377026641 (chr19:55255290 C/T) 19 55255290 C T Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs377026641 19 55255290 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution synonymous exon GRCh37 55255290 55255290 Chr19(GRCh37):g.55255290C>T 418 418 NM_014513.2:c.418C>T p.Leu140= p.Leu140Leu 4 604956 48 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 7.95657 0 Immunoglobulin subtype rs377026641 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 203170 17130 20580 6432 15936 19000 98484 21046 4562 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3766434|COSM3766434 Thyroid|Liver 0.002677|0.000422 747|2371 transition C T C>T 0.000 -1.651 L Leu CTG 0.404 L Leu TTG 0.127 140 197 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C418T:p.L140L . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L140|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -0.4779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.37 182 ENSG00000243772 . KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.011 rs662465 rs662465 rs662465 rs377026641 1 1538 10 1/0 0,202,255 +rs200686594 19 55255377 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55255377 55255377 Chr19(GRCh37):g.55255377C>T 505 505 NM_015868.2:c.505C>T p.Arg169Cys p.Arg169Cys 4 604938 135 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 8.72775 0 Immunoglobulin Immunoglobulin subtype rs200686594 yes no Frequency 1 0.000000 0 0.000040 0.000124 0.000000 0.000000 0.000259 0.000000 0.000000 0.000065 0.000000 0.000259 7 2 0 0 4 0 0 1 0 173714 16178 19318 4154 15462 15036 84320 15394 3852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 4 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM321260|COSM321260|COSM321260 Thyroid|Lung|Large intestine 0.001339|0.000419|0.000448 747|2388|2231 transition C T C>T 0.000 -0.117 R Arg CGT 0.082 C Cys TGT 0.448 169 7 4 Platypus -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 126.59 131.30 Deleterious 0.01 II.97 bad 1.464E-3 0.01538 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C505T:p.R169C . . 0.41049382 . . @ 133 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.065 . . 324.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R169C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -1.1874 -1.335 -1.187 c . . . . . 1.832e-05 . . . 0.0004 4.096e-05 0 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.113 @ . . . 0.37 0.44 182 ENSG00000243772 . KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.009 . . 0.436 . . . 0.210 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.161 . . 0.154 . . . . . . 0 0.296 . . . . . . . 0.166 . HET 0.05 . . . . . . . . . . . . . . . . 0.682 -0.523 . 0.070000 . . . . . . 0.005 . . . 0 2.65e-05 0 0 0.0003 0 0 0 0 0.0003 0.0001 0 0 0 0.0003 0 0 . . 0.203 . -0.175 -0.175000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.007 . 0.003 . 0.279 -0.175 0.143 . . . rs77694681 rs200686594 1 1538 10 1/0 0,202,233 +rs200686594 19 55255377 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55255377 55255377 Chr19(GRCh37):g.55255377C>T 505 505 NM_001291695.1:c.505C>T p.Arg169Cys p.Arg169Cys 4 604953 135 3' 92.4295 X.52 0.966596 7.95657 92.4295 X.52 0.966596 7.95657 0 rs200686594 yes no Frequency 1 0.000000 0 0.000040 0.000124 0.000000 0.000000 0.000259 0.000000 0.000000 0.000065 0.000000 0.000259 7 2 0 0 4 0 0 1 0 173714 16178 19318 4154 15462 15036 84320 15394 3852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 4 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM321260|COSM321260|COSM321260 Thyroid|Lung|Large intestine 0.001339|0.000419|0.000448 747|2388|2231 transition C T C>T 0.000 -0.117 R Arg CGT 0.082 C Cys TGT 0.448 169 11 4 Opossum -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 130.90 131.30 Tolerated 0.05 II.85 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C505T:p.R169C . . 0.41049382 . . @ 133 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.065 . . 324.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R169C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -1.1874 -1.335 -1.187 c . . . . . 1.832e-05 . . . 0.0004 4.096e-05 0 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.113 @ . . . 0.37 0.44 182 ENSG00000243772 . KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.009 . . 0.436 . . . 0.210 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.161 . . 0.154 . . . . . . 0 0.296 . . . . . . . 0.166 . HET 0.05 . . . . . . . . . . . . . . . . 0.682 -0.523 . 0.070000 . . . . . . 0.005 . . . 0 2.65e-05 0 0 0.0003 0 0 0 0 0.0003 0.0001 0 0 0 0.0003 0 0 . . 0.203 . -0.175 -0.175000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.007 . 0.003 . 0.279 -0.175 0.143 . . . rs77694681 rs200686594 1 1538 10 1/0 0,202,233 +rs200686594 19 55255377 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution missense exon GRCh37 55255377 55255377 Chr19(GRCh37):g.55255377C>T 505 505 NM_014513.2:c.505C>T p.Arg169Cys p.Arg169Cys 4 604956 135 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 8.72775 0 Immunoglobulin Immunoglobulin subtype rs200686594 yes no Frequency 1 0.000000 0 0.000040 0.000124 0.000000 0.000000 0.000259 0.000000 0.000000 0.000065 0.000000 0.000259 7 2 0 0 4 0 0 1 0 173714 16178 19318 4154 15462 15036 84320 15394 3852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 4 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM321260|COSM321260|COSM321260 Thyroid|Lung|Large intestine 0.001339|0.000419|0.000448 747|2388|2231 transition C T C>T 0.000 -0.117 R Arg CGT 0.082 C Cys TGT 0.448 169 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C505T:p.R169C . . 0.41049382 . . @ 133 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.065 . . 324.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R169C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -1.1874 -1.335 -1.187 c . . . . . 1.832e-05 . . . 0.0004 4.096e-05 0 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.113 @ . . . 0.37 0.44 182 ENSG00000243772 . KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.009 . . 0.436 . . . 0.210 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.161 . . 0.154 . . . . . . 0 0.296 . . . . . . . 0.166 . HET 0.05 . . . . . . . . . . . . . . . . 0.682 -0.523 . 0.070000 . . . . . . 0.005 . . . 0 2.65e-05 0 0 0.0003 0 0 0 0 0.0003 0.0001 0 0 0 0.0003 0 0 . . 0.203 . -0.175 -0.175000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.007 . 0.003 . 0.279 -0.175 0.143 . . . rs77694681 rs200686594 1 1538 10 1/0 0,202,233 +rs76449138 19 55263830 A T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263830 55263830 Chr19(GRCh37):g.55263830A>T 885 885 NM_015868.2:c.885A>T p.Glu295Asp p.Glu295Asp 8 604938 12 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.984673 12.446 0.000844376 rs76449138 no no 0 0.000000 0 transversion A T A>T 0.000 -0.602 E Glu GAA 0.417 D Asp GAT 0.461 295 7 2 Macaque 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.48 III.43 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.A885T:p.E295D KIR2DL3:uc002qgx.3:exon8:c.A885T:p.E295D KIR2DL3:NM_015868:exon8:c.A885T:p.E295D . . 0.4528302 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.145 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E295D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.1421 -1.350 -1.142 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.071 @ . . . 0.17 0.2 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.008 . . 0.472 . . . 0.410 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.495 . . 0.676 . . . . . . 0 0.512 . . . . . 0.090 . 0.306 . HET 0.06 . . . . . . . . . . . . . 4.0084 . ENST00000342376 1.VI -1.94 . 0.010000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.713 -0.713000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.043 0.015 . 0.237 . 0.297 -0.713 0.804 . . . rs76449138 rs76449138 1 1538 10 1/0 0,251,255 +rs76449138 19 55263830 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55263830 55263830 Chr19(GRCh37):g.55263830A>T 874-55 874-55 NM_001291695.1:c.874-55A>T p.? p.? 8 7 604953 -55 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39416 0 rs76449138 no no 0 0.000000 0 transversion A T A>T 0.000 -0.602 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.A885T:p.E295D KIR2DL3:uc002qgx.3:exon8:c.A885T:p.E295D KIR2DL3:NM_015868:exon8:c.A885T:p.E295D . . 0.4528302 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.145 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E295D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.1421 -1.350 -1.142 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.071 @ . . . 0.17 0.2 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.008 . . 0.472 . . . 0.410 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.495 . . 0.676 . . . . . . 0 0.512 . . . . . 0.090 . 0.306 . HET 0.06 . . . . . . . . . . . . . 4.0084 . ENST00000342376 1.VI -1.94 . 0.010000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.713 -0.713000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.043 0.015 . 0.237 . 0.297 -0.713 0.804 . . . rs76449138 rs76449138 1 1538 10 1/0 0,251,255 +rs76449138 19 55263830 A T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution missense exon GRCh37 55263830 55263830 Chr19(GRCh37):g.55263830A>T 885 885 NM_014513.2:c.885A>T p.Glu295Asp p.Glu295Asp 8 604956 12 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.98317 XI.62 0.0016275 rs76449138 no no 0 0.000000 0 transversion A T A>T 0.000 -0.602 E Glu GAA 0.417 D Asp GAT 0.461 295 2 2 2 0.92 I.38 12.III 13 83 54 45 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.A885T:p.E295D KIR2DL3:uc002qgx.3:exon8:c.A885T:p.E295D KIR2DL3:NM_015868:exon8:c.A885T:p.E295D . . 0.4528302 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.145 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E295D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.1421 -1.350 -1.142 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.071 @ . . . 0.17 0.2 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.008 . . 0.472 . . . 0.410 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.495 . . 0.676 . . . . . . 0 0.512 . . . . . 0.090 . 0.306 . HET 0.06 . . . . . . . . . . . . . 4.0084 . ENST00000342376 1.VI -1.94 . 0.010000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.713 -0.713000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.043 0.015 . 0.237 . 0.297 -0.713 0.804 . . . rs76449138 rs76449138 1 1538 10 1/0 0,251,255 +rs77570590 19 55263864 A G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263864 55263864 Chr19(GRCh37):g.55263864A>G 919 919 NM_015868.2:c.919A>G p.Asn307Asp p.Asn307Asp 8 604938 46 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.21 0 rs77570590 yes no Frequency/1000G 2 0.000000 0 0.015974 0.036300 0.015300 0.005000 0.006000 0.008600 0.000741 0.003838 0.000626 0.000115 0.000054 0.000359 0.000523 0.000495 0.000348 0.003838 185 80 20 1 1 9 60 12 2 249774 20844 31968 8720 18446 25064 114742 24248 5742 0.000296 0.002111 0.000188 0.000000 0.000000 0.000160 0.000174 0.000000 0.000000 37 22 3 0 0 2 10 0 0 111 36 14 1 1 5 40 12 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7994 4026 12020 26 54 80 0.0032419 0.0132353 0.00661157 0.0032419 0.0132353 0.00661157 218 COSM5000192 Pancreas 0.000569 1758 transition A G A>G 0.000 -0.360 N Asn AAT 0.464 D Asp GAT 0.461 307 7 2 Cow 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Tolerated 0.87 III.43 unknown 0.0 0.0 255 PASS . . . . . 0.036 0.016 0.0086 0.005 0.006 0.015 ENSG00000243772:ENST00000342376:exon8:c.A919G:p.N307D KIR2DL3:uc002qgx.3:exon8:c.A919G:p.N307D KIR2DL3:NM_015868:exon8:c.A919G:p.N307D . . 0.4032258 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.069 . . 124.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N307D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) 0.013 0.0066 0.0032 0.013 0.0066 0.0032 . -1.7395 -1.737 -1.740 c . . . . . 5.028e-03 . . . 0.0086 0.0022 0.0023 0 0.0025 0.0014 0.0031 0.0007 0.0092 0.0019 0.0022 0.0001 0.0018 0.0012 0.0032 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.131 0.0160 . . . 0.24 0.19 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.001 . . 0.331 . . . 0.007 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.088 . 0.001 . HET 1 . . . . . . . . . . . . . III.32 0.019297 ENST00000342376 1.VI -0.0516 . 1.000000 . . . . 0.006612 . 0.001 . . . 0.0058 0.0008 0.0006 0.0001 5.91e-05 0.0006 0.0006 0.0004 0.0004 0.0001 7.53e-05 0 0 0 0 7.828e-05 0 . . 0.133 . -0.397 -0.397000 . . 1.000000 . . 1.0E-255 0.006 0.172 . 0.090 0.019 . 0.260 . 0.104 -0.397 -0.196 0.013 . . rs77570590 rs77570590 1 1538 10 1/0 0,242,255 +rs77570590 19 55263864 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55263864 55263864 Chr19(GRCh37):g.55263864A>G 874-21 874-21 NM_001291695.1:c.874-21A>G p.? p.? 8 7 604953 -21 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.475827 0 -0.0506703 55263864 -70.6016 rs77570590 yes no Frequency/1000G 2 0.000000 0 0.015974 0.036300 0.015300 0.005000 0.006000 0.008600 0.000741 0.003838 0.000626 0.000115 0.000054 0.000359 0.000523 0.000495 0.000348 0.003838 185 80 20 1 1 9 60 12 2 249774 20844 31968 8720 18446 25064 114742 24248 5742 0.000296 0.002111 0.000188 0.000000 0.000000 0.000160 0.000174 0.000000 0.000000 37 22 3 0 0 2 10 0 0 111 36 14 1 1 5 40 12 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7994 4026 12020 26 54 80 0.0032419 0.0132353 0.00661157 0.0032419 0.0132353 0.00661157 218 COSM5000192 Pancreas 0.000569 1758 transition A G A>G 0.000 -0.360 255 PASS . . . . . 0.036 0.016 0.0086 0.005 0.006 0.015 ENSG00000243772:ENST00000342376:exon8:c.A919G:p.N307D KIR2DL3:uc002qgx.3:exon8:c.A919G:p.N307D KIR2DL3:NM_015868:exon8:c.A919G:p.N307D . . 0.4032258 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.069 . . 124.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N307D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) 0.013 0.0066 0.0032 0.013 0.0066 0.0032 . -1.7395 -1.737 -1.740 c . . . . . 5.028e-03 . . . 0.0086 0.0022 0.0023 0 0.0025 0.0014 0.0031 0.0007 0.0092 0.0019 0.0022 0.0001 0.0018 0.0012 0.0032 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.131 0.0160 . . . 0.24 0.19 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.001 . . 0.331 . . . 0.007 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.088 . 0.001 . HET 1 . . . . . . . . . . . . . III.32 0.019297 ENST00000342376 1.VI -0.0516 . 1.000000 . . . . 0.006612 . 0.001 . . . 0.0058 0.0008 0.0006 0.0001 5.91e-05 0.0006 0.0006 0.0004 0.0004 0.0001 7.53e-05 0 0 0 0 7.828e-05 0 . . 0.133 . -0.397 -0.397000 . . 1.000000 . . 1.0E-255 0.006 0.172 . 0.090 0.019 . 0.260 . 0.104 -0.397 -0.196 0.013 . . rs77570590 rs77570590 1 1538 10 1/0 0,242,255 +rs77570590 (chr19:55263864 A/G) 19 55263864 A G Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs369659451 19 55263886 G C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263886 55263886 Chr19(GRCh37):g.55263886G>C 941 941 NM_015868.2:c.941G>C p.Arg314Thr p.Arg314Thr 8 604938 68 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.97 0 rs369659451 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 223144 13686 31188 8482 16910 25052 101930 21012 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 161 Exomes COSM4287224|COSM4287224 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000283 2231|3530 transversion G C G>C 0.000 -2.861 R Arg AGA 0.205 T Thr ACA 0.280 314 7 1 -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 353.86 0.00 Tolerated 0.57 III.45 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G941C:p.R314T KIR2DL3:uc002qgx.3:exon8:c.G941C:p.R314T KIR2DL3:NM_015868:exon8:c.G941C:p.R314T . . 0.3448276 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.113 . @ . . . . . 1 0.044 . . 145.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R314T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.8358 -2.002 -1.836 c . . . . . 8.391e-06 . . . . . . . . . . . 0 1.041e-05 0 0 0 2.019e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.067 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.396 . . . 0.547 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.258 . . 0.266 . . . . . . 0 0.632 . . . . . 0.106 . 0.071 . HET 0.09 . . . . . . . . . . . . . IV.01 . ENST00000342376 1.VI -2.12 . 0.060000 . . . . . . 0.015 . . . 0 4.481e-06 0 0 0 0 9.811e-06 0 0 . . . . . . . . . . 0.133 . -2.428 -2.428000 . . 0.060000 . . 1.0E-255 0.000 0.063 . 0.016 0.005 . 0.010 . 0.006 -2.428 0.697 . . . rs369659451 rs369659451 1 1538 10 1/0 0,232,255 +rs369659451 19 55263886 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55263886 55263886 Chr19(GRCh37):g.55263886G>C 875 875 NM_001291695.1:c.875G>C p.Arg292Thr p.Arg292Thr 8 604953 2 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.99763 0.526046 2.65318 0.000825091 rs369659451 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 223144 13686 31188 8482 16910 25052 101930 21012 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 161 Exomes COSM4287224|COSM4287224 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000283 2231|3530 transversion G C G>C 0.000 -2.861 R Arg AGA 0.205 T Thr ACA 0.280 292 11 1 -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 353.86 0.00 Tolerated 0.33 II.88 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G941C:p.R314T KIR2DL3:uc002qgx.3:exon8:c.G941C:p.R314T KIR2DL3:NM_015868:exon8:c.G941C:p.R314T . . 0.3448276 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.113 . @ . . . . . 1 0.044 . . 145.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R314T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.8358 -2.002 -1.836 c . . . . . 8.391e-06 . . . . . . . . . . . 0 1.041e-05 0 0 0 2.019e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.067 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.396 . . . 0.547 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.258 . . 0.266 . . . . . . 0 0.632 . . . . . 0.106 . 0.071 . HET 0.09 . . . . . . . . . . . . . IV.01 . ENST00000342376 1.VI -2.12 . 0.060000 . . . . . . 0.015 . . . 0 4.481e-06 0 0 0 0 9.811e-06 0 0 . . . . . . . . . . 0.133 . -2.428 -2.428000 . . 0.060000 . . 1.0E-255 0.000 0.063 . 0.016 0.005 . 0.010 . 0.006 -2.428 0.697 . . . rs369659451 rs369659451 1 1538 10 1/0 0,232,255 +rs369659451 19 55263886 G C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution 3'UTR GRCh37 55263886 55263886 Chr19(GRCh37):g.55263886G>C *26 *26 NM_014513.2:c.*26G>C p.? p.? 8 604956 68 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.978393 11.V 0 rs369659451 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 223144 13686 31188 8482 16910 25052 101930 21012 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 161 Exomes COSM4287224|COSM4287224 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000283 2231|3530 transversion G C G>C 0.000 -2.861 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G941C:p.R314T KIR2DL3:uc002qgx.3:exon8:c.G941C:p.R314T KIR2DL3:NM_015868:exon8:c.G941C:p.R314T . . 0.3448276 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.113 . @ . . . . . 1 0.044 . . 145.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R314T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.8358 -2.002 -1.836 c . . . . . 8.391e-06 . . . . . . . . . . . 0 1.041e-05 0 0 0 2.019e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.067 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.396 . . . 0.547 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.258 . . 0.266 . . . . . . 0 0.632 . . . . . 0.106 . 0.071 . HET 0.09 . . . . . . . . . . . . . IV.01 . ENST00000342376 1.VI -2.12 . 0.060000 . . . . . . 0.015 . . . 0 4.481e-06 0 0 0 0 9.811e-06 0 0 . . . . . . . . . . 0.133 . -2.428 -2.428000 . . 0.060000 . . 1.0E-255 0.000 0.063 . 0.016 0.005 . 0.010 . 0.006 -2.428 0.697 . . . rs369659451 rs369659451 1 1538 10 1/0 0,232,255 +rs372921221 19 55263897 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263897 55263897 Chr19(GRCh37):g.55263897C>T 952 952 NM_015868.2:c.952C>T p.Arg318Cys p.Arg318Cys 8 604938 79 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XI.06 0 Cryptic Acceptor Weakly Activated 55263909 5.32302 0.783108 79.7396 5.20889 0.836743 83.0542 rs372921221 no no 0 0.000000 0 COSM4287225 Large intestine 0.000896 2231 transition C T C>T 0.000 -2.054 R Arg CGC 0.190 C Cys TGC 0.552 318 7 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.15 III.45 unknown 0.0 0.0 248 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C952T:p.R318C KIR2DL3:uc002qgx.3:exon8:c.C952T:p.R318C KIR2DL3:NM_015868:exon8:c.C952T:p.R318C . . 0.30075186 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.194 . @ . . . . . 1 0.114 . . 133.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R318C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9079 -2.030 -1.908 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.416 . . . 0.413 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.410 . . 0 0 0 0 0 0 . 0.126 . . 0.080 . . . . . . 0 0.491 . . . . . 0.094 . 0.203 . HET 0.05 . . . . . . . . . . . . . 4.0914 . ENST00000342376 0.909 -1.82 . 0.120000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.219 -2.219000 . . 0.120000 . . 1.0E-248 0.000 0.063 . 0.016 0.007 . 0.089 . 0.010 -2.219 -0.521 . . . rs372921221 rs372921221 1 1538 10 1/0 0,232,255 +rs372921221 19 55263897 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55263897 55263897 Chr19(GRCh37):g.55263897C>T 886 886 NM_001291695.1:c.886C>T p.Arg296Cys p.Arg296Cys 8 604953 13 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.527145 0 -0.0201851 rs372921221 no no 0 0.000000 0 COSM4287225 Large intestine 0.000896 2231 transition C T C>T 0.000 -2.054 R Arg CGC 0.190 C Cys TGC 0.552 296 11 2 Orangutan -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.21 II.96 248 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C952T:p.R318C KIR2DL3:uc002qgx.3:exon8:c.C952T:p.R318C KIR2DL3:NM_015868:exon8:c.C952T:p.R318C . . 0.30075186 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.194 . @ . . . . . 1 0.114 . . 133.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R318C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9079 -2.030 -1.908 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.416 . . . 0.413 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.410 . . 0 0 0 0 0 0 . 0.126 . . 0.080 . . . . . . 0 0.491 . . . . . 0.094 . 0.203 . HET 0.05 . . . . . . . . . . . . . 4.0914 . ENST00000342376 0.909 -1.82 . 0.120000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.219 -2.219000 . . 0.120000 . . 1.0E-248 0.000 0.063 . 0.016 0.007 . 0.089 . 0.010 -2.219 -0.521 . . . rs372921221 rs372921221 1 1538 10 1/0 0,232,255 +rs372921221 19 55263897 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution 3'UTR GRCh37 55263897 55263897 Chr19(GRCh37):g.55263897C>T *37 *37 NM_014513.2:c.*37C>T p.? p.? 8 604956 79 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.978393 X.63 0 rs372921221 no no 0 0.000000 0 COSM4287225 Large intestine 0.000896 2231 transition C T C>T 0.000 -2.054 248 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C952T:p.R318C KIR2DL3:uc002qgx.3:exon8:c.C952T:p.R318C KIR2DL3:NM_015868:exon8:c.C952T:p.R318C . . 0.30075186 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.194 . @ . . . . . 1 0.114 . . 133.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R318C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9079 -2.030 -1.908 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.416 . . . 0.413 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.410 . . 0 0 0 0 0 0 . 0.126 . . 0.080 . . . . . . 0 0.491 . . . . . 0.094 . 0.203 . HET 0.05 . . . . . . . . . . . . . 4.0914 . ENST00000342376 0.909 -1.82 . 0.120000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.219 -2.219000 . . 0.120000 . . 1.0E-248 0.000 0.063 . 0.016 0.007 . 0.089 . 0.010 -2.219 -0.521 . . . rs372921221 rs372921221 1 1538 10 1/0 0,232,255 +rs1049267 19 55263898 G C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263898 55263898 Chr19(GRCh37):g.55263898G>C 953 953 NM_015868.2:c.953G>C p.Arg318Pro p.Arg318Pro 8 604938 80 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.73 0 Cryptic Acceptor Strongly Activated 55263909 5.32302 0.783108 79.7396 6.21474 0.893783 79.7396 rs1049267 yes no Frequency/1000G 2 0.000000 0 COSM4287226 Large intestine 0.000448 2231 transversion G C G>C 0.000 -2.619 R Arg CGC 0.190 P Pro CCC 0.328 318 7 1 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Tolerated 0.36 III.45 unknown 0.0 0.0 254 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G953C:p.R318P KIR2DL3:uc002qgx.3:exon8:c.G953C:p.R318P KIR2DL3:NM_015868:exon8:c.G953C:p.R318P . . 0.31851852 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.038 . . 135.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R318P|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9708 -2.088 -1.971 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 0.2624 . . . 0.2 0.17 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.065 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.003 . . 0.454 . . . 0.090 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.238 . . 0 0 0 0 0 0 . 0.352 . . 0.425 . . . . . . 0 0.303 . . . . . 0.315 . 0.080 . HET 0.1 . . . . . . . . . . . . . VIII.11 . ENST00000342376 0.909 -1.82 . 0.100000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.805 -2.805000 . . 0.100000 . . 1.0000000000000001E-254 0.000 0.063 . 0.016 0.007 . 0.088 . 0.012 -2.805 -0.180 . . . . . 1 1538 10 1/0 0,233,255 +rs1049267 19 55263898 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55263898 55263898 Chr19(GRCh37):g.55263898G>C 887 887 NM_001291695.1:c.887G>C p.Arg296Pro p.Arg296Pro 8 604953 14 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.543585 0 -0.010419 Cryptic Acceptor Strongly Activated 55263911 0.000639 72.1951 0.266715 0.001189 72.4856 rs1049267 yes no Frequency/1000G 2 0.000000 0 COSM4287226 Large intestine 0.000448 2231 transversion G C G>C 0.000 -2.619 R Arg CGC 0.190 P Pro CCC 0.328 296 11 2 Orangutan -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Tolerated 0.33 II.96 254 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G953C:p.R318P KIR2DL3:uc002qgx.3:exon8:c.G953C:p.R318P KIR2DL3:NM_015868:exon8:c.G953C:p.R318P . . 0.31851852 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.038 . . 135.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R318P|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9708 -2.088 -1.971 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 0.2624 . . . 0.2 0.17 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.065 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.003 . . 0.454 . . . 0.090 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.238 . . 0 0 0 0 0 0 . 0.352 . . 0.425 . . . . . . 0 0.303 . . . . . 0.315 . 0.080 . HET 0.1 . . . . . . . . . . . . . VIII.11 . ENST00000342376 0.909 -1.82 . 0.100000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.805 -2.805000 . . 0.100000 . . 1.0000000000000001E-254 0.000 0.063 . 0.016 0.007 . 0.088 . 0.012 -2.805 -0.180 . . . . . 1 1538 10 1/0 0,233,255 +rs1049267 (chr19:55263898 G/C) 19 55263898 G C Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs879022787 19 55263923 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution synonymous exon GRCh37 55263923 55263923 Chr19(GRCh37):g.55263923C>T 978 978 NM_015868.2:c.978C>T p.Pro326= p.Pro326Pro 8 604938 105 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.24 0 rs879022787 no no 0 0.000000 0 COSM5482910 Large intestine 0.000448 2231 transition C T C>T 0.000 -0.602 P Pro CCC 0.328 P Pro CCT 0.283 326 245 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C978T:p.P326P KIR2DL3:uc002qgx.3:exon8:c.C978T:p.P326P KIR2DL3:NM_015868:exon8:c.C978T:p.P326P . . 0.29007635 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P326|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -0.4859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs879022787 19 55263923 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution synonymous exon GRCh37 55263923 55263923 Chr19(GRCh37):g.55263923C>T 912 912 NM_001291695.1:c.912C>T p.Pro304= p.Pro304Pro 8 604953 39 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.20178 0 rs879022787 no no 0 0.000000 0 COSM5482910 Large intestine 0.000448 2231 transition C T C>T 0.000 -0.602 P Pro CCC 0.328 P Pro CCT 0.283 304 245 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C978T:p.P326P KIR2DL3:uc002qgx.3:exon8:c.C978T:p.P326P KIR2DL3:NM_015868:exon8:c.C978T:p.P326P . . 0.29007635 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P326|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -0.4859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs879022787 19 55263923 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution 3'UTR GRCh37 55263923 55263923 Chr19(GRCh37):g.55263923C>T *63 *63 NM_014513.2:c.*63C>T p.? p.? 8 604956 105 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.978393 XI.26 0 rs879022787 no no 0 0.000000 0 COSM5482910 Large intestine 0.000448 2231 transition C T C>T 0.000 -0.602 245 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C978T:p.P326P KIR2DL3:uc002qgx.3:exon8:c.C978T:p.P326P KIR2DL3:NM_015868:exon8:c.C978T:p.P326P . . 0.29007635 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P326|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -0.4859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs376492438 19 55263934 T C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263934 55263934 Chr19(GRCh37):g.55263934T>C 989 989 NM_015868.2:c.989T>C p.Ile330Thr p.Ile330Thr 8 604938 116 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.24 0 rs376492438 yes no Frequency/1000G 2 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000045 0.000221 0.000064 0.000000 0.000059 0.000000 0.000039 0.000000 0.000000 0.000221 10 3 2 0 1 0 4 0 0 223026 13578 31164 8480 16914 25066 101926 21012 4886 0.200000 0.000000 0.500000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 2 0 1 0 0 0 1 0 0 6 3 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 141 Exomes 8010 4009 12019 0 1 1 0 0.000249377 8.31947e-05 0 0.000249377 8.31947e-05 210 transition T C T>C 0.000 -0.602 I Ile ATC 0.481 T Thr ACC 0.361 330 7 1 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 1 III.45 unknown 0.0 0.0 215 PASS . . . . . 0.0023 0.0006 . . . . ENSG00000243772:ENST00000342376:exon8:c.T989C:p.I330T KIR2DL3:uc002qgx.3:exon8:c.T989C:p.I330T KIR2DL3:NM_015868:exon8:c.T989C:p.I330T . . 0.1983471 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.024 . . 121.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I330T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) 0.0002 0.0001 . 0.0002 0.0001 . . -2.0026 -1.943 -2.003 c . . . . . 5.044e-05 . . . 0.0002 6.174e-05 0 0 0 7.93e-05 0 0 0.0002 4.17e-05 0 0 0 4.042e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.114 0.0006 . . . 0.21 0.22 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.000 . . 0.435 . . . 0.001 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.041 . 0.008 . HET 1 . . . . . . . . . . . . . II.85 2.93E-4 ENST00000342376 0.909 -0.501 . 1.000000 . . . . 0.000083 . 0.001 . . . 0.0002 4.484e-05 6.418e-05 0 5.912e-05 0 3.924e-05 0 0 . . . . . . . . . . 0.133 . -0.664 -0.664000 . . 1.000000 . . 1.0E-215 0.003 0.159 . 0.062 0.004 . 0.091 . 0.060 -0.664 -1.452 0.0002 . . rs376492438 rs376492438 1 1538 10 1/0 0,227,255 +rs376492438 (chr19:55263934 T/C) 19 55263934 T C Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs376492438 (chr19:55263934 T/C) 19 55263934 T C Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs781524573 19 55263937 T C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263937 55263937 Chr19(GRCh37):g.55263937T>C 992 992 NM_015868.2:c.992T>C p.Ile331Thr p.Ile331Thr 8 604938 119 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.24 0 rs781524573 yes no Frequency 1 0.000000 0 COSM4609963 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.521 I Ile ATC 0.481 T Thr ACC 0.361 331 7 1 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.68 III.43 unknown 0.0 0.0 216 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.T992C:p.I331T KIR2DL3:uc002qgx.3:exon8:c.T992C:p.I331T KIR2DL3:NM_015868:exon8:c.T992C:p.I331T . . 0.20338982 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.014 . . 118.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I331T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.7886 -1.871 -1.789 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.122 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.003 . . 0.423 . . . 0.273 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.036 . . . . . 0.059 . 0.014 . HET 0.44 . . . . . . . . . . . . . 3.0965 . ENST00000342376 0.909 -0.268 . 0.040000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.552 -0.552000 . . 0.040000 . . 1.0E-216 0.000 0.063 . 0.016 0.007 . 0.052 . 0.001 -0.552 -1.708 . . . . . 1 1538 10 1/0 0,229,255 +rs781524573 19 55263937 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55263937 55263937 Chr19(GRCh37):g.55263937T>C 926 926 NM_001291695.1:c.926T>C p.Ser309Thr p.Ser309Thr 8 604953 53 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.54618 0 Cryptic Acceptor Strongly Activated 55263949 0.003276 0.41877 0.015835 63.6552 rs781524573 yes no Frequency 1 0.000000 0 COSM4609963 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.521 S Ser AGC 0.243 T Thr ACC 0.361 309 11 2 Macaque 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 0.1 II.91 216 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.T992C:p.I331T KIR2DL3:uc002qgx.3:exon8:c.T992C:p.I331T KIR2DL3:NM_015868:exon8:c.T992C:p.I331T . . 0.20338982 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.014 . . 118.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I331T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.7886 -1.871 -1.789 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.122 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.003 . . 0.423 . . . 0.273 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.036 . . . . . 0.059 . 0.014 . HET 0.44 . . . . . . . . . . . . . 3.0965 . ENST00000342376 0.909 -0.268 . 0.040000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.552 -0.552000 . . 0.040000 . . 1.0E-216 0.000 0.063 . 0.016 0.007 . 0.052 . 0.001 -0.552 -1.708 . . . . . 1 1538 10 1/0 0,229,255 +rs781524573 19 55263937 T C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution 3'UTR GRCh37 55263937 55263937 Chr19(GRCh37):g.55263937T>C *77 *77 NM_014513.2:c.*77T>C p.? p.? 8 604956 119 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.978393 XI.26 0 Cryptic Acceptor Strongly Activated 55263949 0.004626 0.41877 0.022536 63.6552 rs781524573 yes no Frequency 1 0.000000 0 COSM4609963 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.521 216 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.T992C:p.I331T KIR2DL3:uc002qgx.3:exon8:c.T992C:p.I331T KIR2DL3:NM_015868:exon8:c.T992C:p.I331T . . 0.20338982 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.014 . . 118.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I331T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.7886 -1.871 -1.789 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.122 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.003 . . 0.423 . . . 0.273 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.036 . . . . . 0.059 . 0.014 . HET 0.44 . . . . . . . . . . . . . 3.0965 . ENST00000342376 0.909 -0.268 . 0.040000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.552 -0.552000 . . 0.040000 . . 1.0E-216 0.000 0.063 . 0.016 0.007 . 0.052 . 0.001 -0.552 -1.708 . . . . . 1 1538 10 1/0 0,229,255 +rs879086624 19 55263939 G A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263939 55263939 Chr19(GRCh37):g.55263939G>A 994 994 NM_015868.2:c.994G>A p.Val332Met p.Val332Met 8 604938 121 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.24 0 rs879086624 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223108 13578 31180 8480 16914 25074 101982 21014 4886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 141 Exomes COSM4609964 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.000 -0.521 V Val GTG 0.468 M Met ATG 1.000 332 7 4 Cow 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0 III.43 unknown 0.0 0.0 195 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G994A:p.V332M KIR2DL3:uc002qgx.3:exon8:c.G994A:p.V332M KIR2DL3:NM_015868:exon8:c.G994A:p.V332M . . 0.14782609 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.076 . @ . . . . . 1 0.116 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V332M|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.3007 -1.507 -1.301 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.119 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.010 . . 0.498 . . . 0.479 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.289 . . 0 0 0 0 0 0 . 0.689 . . 0.656 . . . . . . 0 0.433 . . . . . 0.142 . 0.095 . LowAF 0.12 . . . . . . . . . . . . . 5.1336 . ENST00000342376 0.909 -0.364 . 0.050000 . . . . . . 0.015 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.528 -0.528000 . . 0.050000 . . 9.999999999999999E-196 0.000 0.063 . 0.016 0.010 . 0.035 . 0.013 -0.528 0.589 . . . . . 1 1538 10 1/0 0,225,255 +rs879086624 (chr19:55263939 G/A) 19 55263939 G A Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs879086624 (chr19:55263939 G/A) 19 55263939 G A Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs62121563 19 55266572 G T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55266572 55266572 Chr19(GRCh37):g.55266572G>T *2544 *2544 NM_001291695.1:c.*2544G>T p.? p.? 8 604953 2688 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55266566 0.110953 65.332 1.47859 0.463419 70.3508 rs62121563 no no 0 0.000000 0 0.001865 0.006639 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.006639 54 54 0 0 0 0 0 0 0 28958 8134 788 276 1580 0 13872 3384 924 0.055556 0.055556 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 3 0 0 0 0 0 0 0 48 48 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transversion G T G>T 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 80 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 192.0 . . DOWNSTREAM(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.2571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . @ . . . 0.12 0.11 182 . . . . . dist\x3d2068\x3bdist\x3d14302 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0066 0.0019 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62121563 rs62121563 rs62121563 rs62121563 1 1538 10 1/0 0,228,255 +rs560926190 19 55270099 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55270099 55270099 Chr19(GRCh37):g.55270099C>G *6071 *6071 NM_001291695.1:c.*6071C>G p.? p.? 8 604953 6215 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs560926190 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.000000 0.001000 0.002000 0.000000 0.002658 0.000981 0.003759 0.000000 0.000647 0.000000 0.003027 0.004723 0.007592 0.004723 77 8 3 0 1 0 42 16 7 28964 8158 798 278 1546 0 13874 3388 922 0.038961 0.125000 0.333333 0.000000 0.000000 0.000000 0.023810 0.000000 0.000000 3 1 1 0 0 0 1 0 0 71 6 1 0 1 0 40 16 7 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transversion C G C>G 0.000 0.125 181 PASS . . . . . . 0.0006 . 0.001 0.002 . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . 0.0006 . . . 0.21 0.11 182 ENSG00000242473 . . . . dist\x3d5595\x3bdist\x3d10775 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0027 0.0038 0 0.0006 0.0047 0.0030 0.0076 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs78036355 rs78036355 1 1538 10 1/0 0,243,255 +rs72487182 19 55271856 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55271856 55271856 Chr19(GRCh37):g.55271856G>C *7828 *7828 NM_001291695.1:c.*7828G>C p.? p.? 8 604953 7972 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs72487182 yes no Frequency/1000G 2 0.000000 0 transversion G C G>C 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.76086956 . . @ 175 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 230.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . @ . . . 0.1 0.19 182 . . . . . dist\x3d7352\x3bdist\x3d9018 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1743326 rs1743326 rs1743326 rs147016424 1 1538 10 1/0 0,217,212 +rs1654629 19 55271858 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55271858 55271858 Chr19(GRCh37):g.55271858A>G *7830 *7830 NM_001291695.1:c.*7830A>G p.? p.? 8 604953 7974 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs1654629 no no 0 0.000000 0 transition A G A>G 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.7593361 . . @ 183 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 241.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . @ . . . 0.09 0.09 182 . . . . . dist\x3d7354\x3bdist\x3d9016 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1654629 rs1654629 rs1654629 rs1654629 1 1538 10 1/0 0,216,211 +rs371985010 19 55271931 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55271931 55271931 Chr19(GRCh37):g.55271931C>T *7903 *7903 NM_001291695.1:c.*7903C>T p.? p.? 8 604953 8047 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs371985010 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 transition C T C>T 0.000 -1.247 213 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.19186047 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 344.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . 0.0002 . . . 0.2 0.24 182 ENSG00000242473 . . . . dist\x3d7427\x3bdist\x3d8943 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs662465 rs662465 rs662465 rs371985010 1 1538 10 1/0 0,181,255 +rs200728766 19 55272002 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55272002 55272002 Chr19(GRCh37):g.55272002G>A *7974 *7974 NM_001291695.1:c.*7974G>A p.? p.? 8 604953 8118 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200728766 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000103 0.000121 0.001259 0.000000 0.000000 0.000000 0.000072 0.000000 0.000000 0.001259 3 1 1 0 0 0 1 0 0 29226 8294 794 276 1584 0 13972 3380 926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transition G A G>A 0.000 -1.893 225 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.2248996 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 249.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . 0.0002 . . . 0.12 0.14 182 ENSG00000242473 . . . . dist\x3d7498\x3bdist\x3d8872 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0.0013 0 0 0 7.157e-05 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs200728766 rs200728766 1 1538 10 1/0 0,200,255 +rs644822 19 55272018 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55272018 55272018 Chr19(GRCh37):g.55272018C>T *7990 *7990 NM_001291695.1:c.*7990C>T p.? p.? 8 604953 8134 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs644822 yes no Frequency 1 0.000000 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000072 0.000000 0.000000 0.000072 1 0 0 0 0 0 1 0 0 29242 8276 802 278 1580 0 13986 3388 932 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transition C T C>T 0.000 -2.619 200 PASS . . . . . . . . . . . . . . . . 0.15841584 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 202.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . 0.17 0.19 182 ENSG00000242473 . . . . dist\x3d7514\x3bdist\x3d8856 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.42e-05 0 0 0 0 7.15e-05 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs644822 rs644822 rs644822 rs644822 1 1538 10 1/0 0,202,255 +rs879002981 19 55272024 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55272024 55272024 Chr19(GRCh37):g.55272024T>C *7996 *7996 NM_001291695.1:c.*7996T>C p.? p.? 8 604953 8140 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs879002981 no no 0 0.000000 0 transition T C T>C 0.000 -1.328 223 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 189.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . ENSG00000242473 . . . . dist\x3d7520\x3bdist\x3d8850 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 19 55272027 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55272027 55272027 Chr19(GRCh37):g.55272027T>C *7999 *7999 NM_001291695.1:c.*7999T>C p.? p.? 8 604953 8143 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition T C T>C 0.000 -0.440 216 PASS . . . . . . . . . . . . . . . . 0.2010582 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 189.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . ENSG00000242473 . . . . dist\x3d7523\x3bdist\x3d8847 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +rs867296486 19 55275348 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55275348 55275348 Chr19(GRCh37):g.55275348C>T *11320 *11320 NM_001291695.1:c.*11320C>T p.? p.? 8 604953 11464 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55275359 0.000864 62.1426 0.491761 0.002314 66.2445 rs867296486 no no 0 0.000000 0 transition C T C>T 0.004 -0.279 243 PASS . . . . . . . . . . . ENSG00000243772:ENST00000434419:exon5:c.C670T:p.P224S . . . . 0.28244275 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.081 . @ . . . . . 3 0.059 . . 131.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9243 -1.169 -0.924 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.005 . . exonic intronic intergenic . . 0.102 @ . . . . . . ENSG00000243772 . . . . dist\x3d10844\x3bdist\x3d5526 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.001 0.000 . . 37 . 0.004 . . 0.417 . . . . 0.090 . . . . . . . . . . . . . . . 0.503 . . . . . . 0 . . . . . . . . . . . . . 0.443 . . . . . . . 0.054 . HET 0.13 . . . . . . . . . . . . . . . ENST00000434419 0.704 -0.822 . 0.060000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.203 . -0.279 -0.279000 . . 0.060000 . . 1.0E-243 0.003 0.159 . 0.134 0.069 . 0.075 . 0.256 -0.279 0.143 . . . . . 1 1538 10 1/0 0,231,255 +. 19 55278658 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278658 55278658 Chr19(GRCh37):g.55278658A>T *14630 *14630 NM_001291695.1:c.*14630A>T p.? p.? 8 604953 14774 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion A T A>T 0.000 0.690 176 PASS . . . . . . . . . . . . . . . . 0.10666667 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.082 . @ . . . . . 3 0.065 . . 75.0 . . . . . . . . . . -0.2198 -0.205 -0.220 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.183 @ . . . . . . ENSG00000242473 . . . . dist\x3d14154\x3bdist\x3d2216 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.091 . . . LowAF 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . 1.0E-176 0.000 0.063 . 0.016 0.023 . 0.205 . 0.067 . 0.804 . . . . . 1 1538 10 1/0 0,239,255 +. 19 55278682 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278682 55278682 Chr19(GRCh37):g.55278682C>T *14654 *14654 NM_001291695.1:c.*14654C>T p.? p.? 8 604953 14798 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs950313296 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 -0.602 174 PASS . . . . . . . . . . . . . . . . 0.10227273 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 88.0 . . . . . . . . . . -0.4763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . ENSG00000242473 . . . . dist\x3d14178\x3bdist\x3d2192 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs4020179 19 55278684 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278684 55278684 Chr19(GRCh37):g.55278684T>C *14656 *14656 NM_001291695.1:c.*14656T>C p.? p.? 8 604953 14800 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs4020179 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000205 0.000000 0.000000 0.000000 0.000000 0.000000 0.000354 0.000293 0.000000 0.000354 6 0 0 0 0 0 5 1 0 29338 8252 802 274 1560 0 14106 3410 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 5 1 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 0.000 -0.037 179 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.11235955 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.080 . @ . . . . . 3 0.039 . . 89.0 . . . . . . . . . . -0.3891 -0.227 -0.389 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.183 0.0002 . . . 0.32 0.33 182 ENSG00000242473 . . . . dist\x3d14180\x3bdist\x3d2190 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.067 . . . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.001 . . . . . . . . . . . . 0 0.0002 0 0 0 0.0003 0.0004 0 . . 0.004 . . . . . . . . 1.0E-179 0.000 0.063 . 0.043 0.087 . 0.124 . 0.049 . -0.206 . rs4020179 rs4020179 rs4020179 rs4020179 1 1538 10 1/0 0,232,255 +. 19 55278714 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278714 55278714 Chr19(GRCh37):g.55278714G>C *14686 *14686 NM_001291695.1:c.*14686G>C p.? p.? 8 604953 14830 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 0.000071 1 0 0 0 0 0 1 0 0 29258 8236 802 274 1572 0 14048 3396 930 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion G C G>C 0.004 -0.682 204 PASS . . . . . . . . . . . . . . . . 0.16964285 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.053 . @ . . . . . 3 0.097 . . 112.0 . . . . . . . . . . -0.5377 -0.252 -0.538 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.075 @ . . . . . . ENSG00000242473 . . . . dist\x3d14210\x3bdist\x3d2160 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.100 . . . HET 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.020 . . . . . . . . . . . . 0 3.418e-05 0 0 0 0 7.118e-05 0 . . 0.004 . . . . . . . . 1.0E-204 0.000 0.063 . 0.043 0.008 . 0.012 . 0.052 . 0.373 . . . . . 1 1538 10 1/0 0,227,255 +rs552143643 19 55278725 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278725 55278725 Chr19(GRCh37):g.55278725C>T *14697 *14697 NM_001291695.1:c.*14697C>T p.? p.? 8 604953 14841 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Weakly Activated 55278737 5.32302 0.783108 79.7396 5.20889 0.836743 83.0542 rs552143643 yes no Frequency/1000G 2 0.000000 0 0.000799 0.001500 0.000000 0.000000 0.001000 0.001400 0.000650 0.002190 0.000000 0.000000 0.000638 0.000000 0.000000 0.000000 0.000000 0.002190 19 18 0 0 1 0 0 0 0 29212 8218 798 280 1568 0 14020 3400 928 0.210526 0.222222 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 4 0 0 0 0 0 0 0 11 10 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transition C T C>T 0.000 -1.409 209 PASS . . . . . 0.0015 0.0008 0.0014 . 0.001 . . . . . . 0.1826087 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.085 . @ . . . . . 3 0.043 . . 115.0 . . . . . . . . . . -0.5588 -0.253 -0.559 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.075 0.0008 . . . . . . ENSG00000242473 . . . . dist\x3d14221\x3bdist\x3d2149 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.049 . . . HET 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.018 . . . . . . . . . . . . 0.0022 0.0007 0 0 0.0006 0 0 0 . . 0.004 . . . . . . . . 1.0E-209 0.000 0.063 . 0.016 0.000 . 0.058 . 0.006 . -0.819 . . . . . 1 1538 10 1/0 0,227,255 +rs139233714 19 55278726 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278726 55278726 Chr19(GRCh37):g.55278726G>C *14698 *14698 NM_001291695.1:c.*14698G>C p.? p.? 8 604953 14842 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55278737 5.32302 0.783108 79.7396 6.21474 0.893783 79.7396 transversion G C G>C 0.000 -0.602 207 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.038 . @ . . . . . 3 0.018 . . 119.0 . . . . . . . . . . -0.6229 -0.260 -0.623 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.075 0.0016 . . . 0.22 0.24 182 ENSG00000242473 . . . . dist\x3d14222\x3bdist\x3d2148 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.236 . . . HET 0.1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . 1.0E-207 0.000 0.063 . 0.016 0.000 . 0.056 . 0.007 . -0.804 . . . . . 1 1538 10 1/0 0,225,255 +. 19 55278751 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278751 55278751 Chr19(GRCh37):g.55278751C>T *14723 *14723 NM_001291695.1:c.*14723C>T p.? p.? 8 604953 14867 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition C T C>T 0.000 -0.117 223 PASS . . . . . . . . . . . . . . . . 0.22302158 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 139.0 . . . . . . . . . . -0.3237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . ENSG00000242473 . . . . dist\x3d14247\x3bdist\x3d2123 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs544047457 19 55281270 C G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution 5'UTR GRCh37 55281270 55281270 Chr19(GRCh37):g.55281270C>G -33 -33 NM_014218.2:c.-33C>G p.? p.? 1 604936 -67 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 8.45283 0 rs544047457 yes no Frequency/1000G 2 0.000000 0 0.001997 0.002300 0.003100 0.000000 0.002000 0.002900 0.000017 0.000000 0.000000 0.000000 0.000000 0.000067 0.000018 0.000000 0.000000 0.000067 4 0 0 0 0 2 2 0 0 237628 14998 32442 9218 17054 29778 108264 20568 5306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion C G C>G 0.000 -0.360 192 PASS . . . . . 0.0023 0.002 0.0029 . 0.002 0.0031 . . . . . 0.14 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . -0.4103 . . . . . . . . 7.252e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.273e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.309e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . 0.0020 . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.683e-05 0 0 0 0 1.847e-05 0 6.716e-05 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +rs544047457 19 55281270 C G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution upstream GRCh37 55281270 55281270 Chr19(GRCh37):g.55281270C>G -33 -33 NM_014219.2:c.-33C>G p.? p.? 1 604937 -67 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 9.21211 0 rs544047457 yes no Frequency/1000G 2 0.000000 0 0.001997 0.002300 0.003100 0.000000 0.002000 0.002900 0.000017 0.000000 0.000000 0.000000 0.000000 0.000067 0.000018 0.000000 0.000000 0.000067 4 0 0 0 0 2 2 0 0 237628 14998 32442 9218 17054 29778 108264 20568 5306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion C G C>G 0.000 -0.360 192 PASS . . . . . 0.0023 0.002 0.0029 . 0.002 0.0031 . . . . . 0.14 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . -0.4103 . . . . . . . . 7.252e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.273e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.309e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . 0.0020 . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.683e-05 0 0 0 0 1.847e-05 0 6.716e-05 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +rs544047457 19 55281270 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281270 55281270 Chr19(GRCh37):g.55281270C>G *17242 *17242 NM_001291695.1:c.*17242C>G p.? p.? 8 604953 17386 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs544047457 yes no Frequency/1000G 2 0.000000 0 0.001997 0.002300 0.003100 0.000000 0.002000 0.002900 0.000017 0.000000 0.000000 0.000000 0.000000 0.000067 0.000018 0.000000 0.000000 0.000067 4 0 0 0 0 2 2 0 0 237628 14998 32442 9218 17054 29778 108264 20568 5306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion C G C>G 0.000 -0.360 192 PASS . . . . . 0.0023 0.002 0.0029 . 0.002 0.0031 . . . . . 0.14 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . -0.4103 . . . . . . . . 7.252e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.273e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.309e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . 0.0020 . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.683e-05 0 0 0 0 1.847e-05 0 6.716e-05 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +rs770966271 19 55281273 T G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution 5'UTR GRCh37 55281273 55281273 Chr19(GRCh37):g.55281273T>G -30 -30 NM_014218.2:c.-30T>G p.? p.? 1 604936 -64 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.22473 0 rs770966271 yes no Frequency 1 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000101 0.000018 0.000000 0.000000 0.000101 5 0 0 0 0 3 2 0 0 237774 15004 32442 9218 17054 29778 108310 20668 5300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion T G T>G 0.000 -1.732 211 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 160.0 . . . . . . . . . . -0.8011 . . . . . . . . 6.446e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.271e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.308e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.103e-05 0 0 0 0 1.847e-05 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +rs770966271 19 55281273 T G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution upstream GRCh37 55281273 55281273 Chr19(GRCh37):g.55281273T>G -30 -30 NM_014219.2:c.-30T>G p.? p.? 1 604937 -64 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 9.98401 0 rs770966271 yes no Frequency 1 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000101 0.000018 0.000000 0.000000 0.000101 5 0 0 0 0 3 2 0 0 237774 15004 32442 9218 17054 29778 108310 20668 5300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion T G T>G 0.000 -1.732 211 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 160.0 . . . . . . . . . . -0.8011 . . . . . . . . 6.446e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.271e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.308e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.103e-05 0 0 0 0 1.847e-05 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +rs770966271 19 55281273 T G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281273 55281273 Chr19(GRCh37):g.55281273T>G *17245 *17245 NM_001291695.1:c.*17245T>G p.? p.? 8 604953 17389 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs770966271 yes no Frequency 1 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000101 0.000018 0.000000 0.000000 0.000101 5 0 0 0 0 3 2 0 0 237774 15004 32442 9218 17054 29778 108310 20668 5300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion T G T>G 0.000 -1.732 211 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 160.0 . . . . . . . . . . -0.8011 . . . . . . . . 6.446e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.271e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.308e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.103e-05 0 0 0 0 1.847e-05 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +rs200043424 19 55281291 T A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution 5'UTR GRCh37 55281291 55281291 Chr19(GRCh37):g.55281291T>A -12 -12 NM_014218.2:c.-12T>A p.? p.? 1 604936 -46 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.23676 0 rs200043424 yes no Frequency/1000G 2 0.000000 0 0.000049 0.000342 0.000000 0.000000 0.000000 0.000067 0.000024 0.000000 0.000000 0.000342 13 8 0 0 0 2 3 0 0 267660 23394 33250 9508 18640 29786 122598 24234 6250 0.000022 0.000171 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000000 3 2 0 0 0 1 0 0 0 7 4 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.378 -0.198 255 PASS . 0.0005 . . 0.0013 . . . . . . . . . . . 0.3546798 . . @ 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 203.0 . . . . . . . . . . -0.5437 . . . . . . . . 4.833e-05 . . . 0.0003 6.828e-05 0 0 0 2.466e-05 0 0.0001 0.0003 4.845e-05 0 0 0 0 0 0.0001 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.4 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 4.201e-05 0 0 0 0 1.845e-05 0 6.715e-05 0.0002 0.0001 0 0 0 0 7.037e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200043424 rs200043424 1 1538 10 1/0 0,215,242 +rs200043424 (chr19:55281291 T/A) 19 55281291 T A Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs200043424 19 55281291 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281291 55281291 Chr19(GRCh37):g.55281291T>A *17263 *17263 NM_001291695.1:c.*17263T>A p.? p.? 8 604953 17407 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200043424 yes no Frequency/1000G 2 0.000000 0 0.000049 0.000342 0.000000 0.000000 0.000000 0.000067 0.000024 0.000000 0.000000 0.000342 13 8 0 0 0 2 3 0 0 267660 23394 33250 9508 18640 29786 122598 24234 6250 0.000022 0.000171 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000000 3 2 0 0 0 1 0 0 0 7 4 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.378 -0.198 255 PASS . 0.0005 . . 0.0013 . . . . . . . . . . . 0.3546798 . . @ 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 203.0 . . . . . . . . . . -0.5437 . . . . . . . . 4.833e-05 . . . 0.0003 6.828e-05 0 0 0 2.466e-05 0 0.0001 0.0003 4.845e-05 0 0 0 0 0 0.0001 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.4 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 4.201e-05 0 0 0 0 1.845e-05 0 6.715e-05 0.0002 0.0001 0 0 0 0 7.037e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200043424 rs200043424 1 1538 10 1/0 0,215,242 +rs368074906 19 55281312 T A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55281312 55281312 Chr19(GRCh37):g.55281312T>A 10 10 NM_014218.2:c.10T>A p.Leu4Met p.Leu4Met 1 604936 -25 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.11194 0 rs368074906 yes no Frequency/1000G 2 0.000000 0 0.003395 0.001500 0.011200 0.000000 0.002000 0.002900 0.000717 0.000128 0.000030 0.000000 0.000000 0.006211 0.000016 0.000000 0.000160 0.006211 192 3 1 0 0 185 2 0 1 267908 23358 33248 9506 18632 29786 122666 24458 6254 0.000254 0.000000 0.000000 0.000000 0.000000 0.002283 0.000000 0.000000 0.000000 34 0 0 0 0 34 0 0 0 124 3 1 0 0 117 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1612802|COSM1612802|COSM1612802 Pancreas|Liver|Central nervous system 0.001138|0.000422|0.000416 1758|2371|2405 transversion T A T>A 0.984 -0.279 L Leu TTG 0.127 M Met ATG 1.000 4 7 1 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 353.86 0.00 Tolerated 0.27 III.54 unknown 0.0 0.0 255 PASS . . . . . 0.0015 0.0034 0.0029 . 0.002 0.011 . . KIR2DL1:NM_014218:exon1:c.T10A:p.L4M . . 0.4635193 . . @ 108 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.018 . @ . . . . . 0 0.065 . . 233.0 . . . . . . . . . . -1.8727 -1.867 -1.873 c . . . . . 7.973e-04 . . . 9.852e-05 0.0011 0.0002 0 0 4.93e-05 0 0.0058 0 0.0009 0.0002 0 0 5.693e-05 0 0.0058 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.161 0.0034 . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . 10 0.000153903 64976 2 3.33411e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.001 . . 0.354 . . . 0.017 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.139 . . . . . . 2 0.010 . . . . . . . 0.363 . HET 1 . . . . . . . . . . . . . . . . 0.514 0.514 . 1.000000 . . . . . . 0.004 . . . 6.668e-05 0.0008 3.082e-05 0 0 0 1.844e-05 0.0002 0.0062 0.0002 6.752e-05 0 0 0 0 0 0 . . 0.133 . -0.394 -0.394000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.090 0.035 . 0.072 . 0.007 -0.394 -1.990 . . . rs368074906 rs368074906 1 1538 10 1/0 0,217,231 +rs368074906 (chr19:55281312 T/A) 19 55281312 T A Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs368074906 19 55281312 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281312 55281312 Chr19(GRCh37):g.55281312T>A *17284 *17284 NM_001291695.1:c.*17284T>A p.? p.? 8 604953 17428 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs368074906 yes no Frequency/1000G 2 0.000000 0 0.003395 0.001500 0.011200 0.000000 0.002000 0.002900 0.000717 0.000128 0.000030 0.000000 0.000000 0.006211 0.000016 0.000000 0.000160 0.006211 192 3 1 0 0 185 2 0 1 267908 23358 33248 9506 18632 29786 122666 24458 6254 0.000254 0.000000 0.000000 0.000000 0.000000 0.002283 0.000000 0.000000 0.000000 34 0 0 0 0 34 0 0 0 124 3 1 0 0 117 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1612802|COSM1612802|COSM1612802 Pancreas|Liver|Central nervous system 0.001138|0.000422|0.000416 1758|2371|2405 transversion T A T>A 0.984 -0.279 255 PASS . . . . . 0.0015 0.0034 0.0029 . 0.002 0.011 . . KIR2DL1:NM_014218:exon1:c.T10A:p.L4M . . 0.4635193 . . @ 108 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.018 . @ . . . . . 0 0.065 . . 233.0 . . . . . . . . . . -1.8727 -1.867 -1.873 c . . . . . 7.973e-04 . . . 9.852e-05 0.0011 0.0002 0 0 4.93e-05 0 0.0058 0 0.0009 0.0002 0 0 5.693e-05 0 0.0058 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.161 0.0034 . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . 10 0.000153903 64976 2 3.33411e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.001 . . 0.354 . . . 0.017 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.139 . . . . . . 2 0.010 . . . . . . . 0.363 . HET 1 . . . . . . . . . . . . . . . . 0.514 0.514 . 1.000000 . . . . . . 0.004 . . . 6.668e-05 0.0008 3.082e-05 0 0 0 1.844e-05 0.0002 0.0062 0.0002 6.752e-05 0 0 0 0 0 0 . . 0.133 . -0.394 -0.394000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.090 0.035 . 0.072 . 0.007 -0.394 -1.990 . . . rs368074906 rs368074906 1 1538 10 1/0 0,217,231 +rs375195215 19 55281318 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55281318 55281318 Chr19(GRCh37):g.55281318G>A 16 16 NM_014218.2:c.16G>A p.Val6Ile p.Val6Ile 1 604936 -19 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 VIII.02 0 rs375195215 yes no Frequency 1 0.000000 0 0.000022 0.000128 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000128 6 3 0 0 0 0 3 0 0 267906 23414 33254 9500 18638 29788 122642 24422 6248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1255880|COSM1255880|COSM1255880|COSM1255880 Stomach|Pancreas|Large intestine|Central nervous system 0.001161|0.000569|0.000836|0.000416 861|1758|2391|2405 transition G A G>A 0.929 -0.440 V Val GTC 0.240 I Ile ATC 0.481 6 7 1 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 1 III.54 unknown 0.0 0.0 231 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon1:c.G16A:p.V6I . . 0.24561404 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 0 0.111 . . 285.0 . . . . . . . . . . -1.4037 -1.525 -1.404 c . . . . . 4.026e-05 . . . 0.0002 4.551e-05 8.894e-05 0 0 2.465e-05 0 0 0.0001 1.937e-05 0 0 0 1.897e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.095 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.222 0.008 . . 37 . 0.003 . . 0.390 . . . 0.104 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.154 . . 0.133 . . . . . . 2 0.302 . . . . . . . 0.193 . HET 0.22 . . . . . . . . . . . . . . . . 0.514 -1.03 . 0.030000 . . . . . . 0.008 . . . 0.0001 1.679e-05 0 0 0 0 1.845e-05 0 0 0.0001 6.744e-05 0 0 0 0 7.036e-05 0 . . 0.133 . -0.402 -0.402000 . . 0.030000 . . 1.0E-231 0.021 0.196 . 0.104 0.027 . 0.194 . 0.056 -0.402 -1.242 . . . rs375195215 rs375195215 1 1538 10 1/0 0,193,243 +rs375195215 19 55281318 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55281318 55281318 Chr19(GRCh37):g.55281318G>A 16 16 NM_014219.2:c.16G>A p.Val6Ile p.Val6Ile 1 604937 -19 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 9.64949 0 rs375195215 yes no Frequency 1 0.000000 0 0.000022 0.000128 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000128 6 3 0 0 0 0 3 0 0 267906 23414 33254 9500 18638 29788 122642 24422 6248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1255880|COSM1255880|COSM1255880|COSM1255880 Stomach|Pancreas|Large intestine|Central nervous system 0.001161|0.000569|0.000836|0.000416 861|1758|2391|2405 transition G A G>A 0.929 -0.440 V Val GTC 0.240 I Ile ATC 0.481 6 11 3 Orangutan 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 1 II.93 good 9.997E-1 0.001108 231 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon1:c.G16A:p.V6I . . 0.24561404 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 0 0.111 . . 285.0 . . . . . . . . . . -1.4037 -1.525 -1.404 c . . . . . 4.026e-05 . . . 0.0002 4.551e-05 8.894e-05 0 0 2.465e-05 0 0 0.0001 1.937e-05 0 0 0 1.897e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.095 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.222 0.008 . . 37 . 0.003 . . 0.390 . . . 0.104 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.154 . . 0.133 . . . . . . 2 0.302 . . . . . . . 0.193 . HET 0.22 . . . . . . . . . . . . . . . . 0.514 -1.03 . 0.030000 . . . . . . 0.008 . . . 0.0001 1.679e-05 0 0 0 0 1.845e-05 0 0 0.0001 6.744e-05 0 0 0 0 7.036e-05 0 . . 0.133 . -0.402 -0.402000 . . 0.030000 . . 1.0E-231 0.021 0.196 . 0.104 0.027 . 0.194 . 0.056 -0.402 -1.242 . . . rs375195215 rs375195215 1 1538 10 1/0 0,193,243 +rs375195215 19 55281318 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281318 55281318 Chr19(GRCh37):g.55281318G>A *17290 *17290 NM_001291695.1:c.*17290G>A p.? p.? 8 604953 17434 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs375195215 yes no Frequency 1 0.000000 0 0.000022 0.000128 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000128 6 3 0 0 0 0 3 0 0 267906 23414 33254 9500 18638 29788 122642 24422 6248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1255880|COSM1255880|COSM1255880|COSM1255880 Stomach|Pancreas|Large intestine|Central nervous system 0.001161|0.000569|0.000836|0.000416 861|1758|2391|2405 transition G A G>A 0.929 -0.440 231 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon1:c.G16A:p.V6I . . 0.24561404 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 0 0.111 . . 285.0 . . . . . . . . . . -1.4037 -1.525 -1.404 c . . . . . 4.026e-05 . . . 0.0002 4.551e-05 8.894e-05 0 0 2.465e-05 0 0 0.0001 1.937e-05 0 0 0 1.897e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.095 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.222 0.008 . . 37 . 0.003 . . 0.390 . . . 0.104 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.154 . . 0.133 . . . . . . 2 0.302 . . . . . . . 0.193 . HET 0.22 . . . . . . . . . . . . . . . . 0.514 -1.03 . 0.030000 . . . . . . 0.008 . . . 0.0001 1.679e-05 0 0 0 0 1.845e-05 0 0 0.0001 6.744e-05 0 0 0 0 7.036e-05 0 . . 0.133 . -0.402 -0.402000 . . 0.030000 . . 1.0E-231 0.021 0.196 . 0.104 0.027 . 0.194 . 0.056 -0.402 -1.242 . . . rs375195215 rs375195215 1 1538 10 1/0 0,193,243 +. 19 55281350 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55281350 55281350 Chr19(GRCh37):g.55281350A>G 34+14 34+14 NM_014218.2:c.34+14A>G p.? p.? 1 1 604936 14 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.36068 0 rs386810968 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 237784 15002 32424 9220 17042 29774 108372 20648 5302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 99 Exomes transition A G A>G 0.016 -1.409 189 PASS . . . . . . . . . . . . . . . . 0.13192612 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 379.0 . . . . . . . . . . -0.7180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55281350 A G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55281350 55281350 Chr19(GRCh37):g.55281350A>G 34+14 34+14 NM_014219.2:c.34+14A>G p.? p.? 1 1 604937 14 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 10.XII 0 rs386810968 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 237784 15002 32424 9220 17042 29774 108372 20648 5302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 99 Exomes transition A G A>G 0.016 -1.409 189 PASS . . . . . . . . . . . . . . . . 0.13192612 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 379.0 . . . . . . . . . . -0.7180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55281350 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281350 55281350 Chr19(GRCh37):g.55281350A>G *17322 *17322 NM_001291695.1:c.*17322A>G p.? p.? 8 604953 17466 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs386810968 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 237784 15002 32424 9220 17042 29774 108372 20648 5302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 99 Exomes transition A G A>G 0.016 -1.409 189 PASS . . . . . . . . . . . . . . . . 0.13192612 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 379.0 . . . . . . . . . . -0.7180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs149941858 19 55281352 C G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55281352 55281352 Chr19(GRCh37):g.55281352C>G 34+16 34+16 NM_014218.2:c.34+16C>G p.? p.? 1 1 604936 16 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.10469 0 rs149941858 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 267178 23320 33242 9494 18626 29780 122516 23956 6244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6928934 . . @ 273 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 394.0 . . . . . . . . . . -0.3572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.2 0.11 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149941858 rs149941858 1 1538 10 1/0 0,203,200 +rs149941858 19 55281352 C G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55281352 55281352 Chr19(GRCh37):g.55281352C>G 34+16 34+16 NM_014219.2:c.34+16C>G p.? p.? 1 1 604937 16 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 9.86397 0 rs149941858 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 267178 23320 33242 9494 18626 29780 122516 23956 6244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6928934 . . @ 273 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 394.0 . . . . . . . . . . -0.3572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.2 0.11 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149941858 rs149941858 1 1538 10 1/0 0,203,200 +rs149941858 19 55281352 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281352 55281352 Chr19(GRCh37):g.55281352C>G *17324 *17324 NM_001291695.1:c.*17324C>G p.? p.? 8 604953 17468 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs149941858 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 267178 23320 33242 9494 18626 29780 122516 23956 6244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6928934 . . @ 273 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 394.0 . . . . . . . . . . -0.3572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.2 0.11 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149941858 rs149941858 1 1538 10 1/0 0,203,200 +rs878874352 19 55282169 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282169 55282169 Chr19(GRCh37):g.55282169G>A 35-132 35-132 NM_014218.2:c.35-132G>A p.? p.? 2 1 604936 -132 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 New Acceptor Site 55282171 0.0503951 0.000454 68.5442 rs878874352 no no 0 0.000000 0 transition G A G>A 0.016 1.900 197 PASS . . . . . . . . . . . . . . . . 0.15075377 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 398.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs878874352 19 55282169 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282169 55282169 Chr19(GRCh37):g.55282169G>A 35-132 35-132 NM_014219.2:c.35-132G>A p.? p.? 2 1 604937 -132 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 New Acceptor Site 55282171 0.0503951 0.000454 68.5442 rs878874352 no no 0 0.000000 0 transition G A G>A 0.016 1.900 197 PASS . . . . . . . . . . . . . . . . 0.15075377 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 398.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs878874352 19 55282169 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282169 55282169 Chr19(GRCh37):g.55282169G>A *18141 *18141 NM_001291695.1:c.*18141G>A p.? p.? 8 604953 18285 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 New Acceptor Site 55282171 0.0503951 0.000454 68.5442 rs878874352 no no 0 0.000000 0 transition G A G>A 0.016 1.900 197 PASS . . . . . . . . . . . . . . . . 0.15075377 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 398.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs879207861 19 55282171 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282171 55282171 Chr19(GRCh37):g.55282171T>C 35-130 35-130 NM_014218.2:c.35-130T>C p.? p.? 2 1 604936 -130 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs879207861 no no 0 0.000000 0 transition T C T>C 0.008 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.32178217 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 404.0 . . . . . . . . . . -0.2631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,240 +rs879207861 19 55282171 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282171 55282171 Chr19(GRCh37):g.55282171T>C 35-130 35-130 NM_014219.2:c.35-130T>C p.? p.? 2 1 604937 -130 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs879207861 no no 0 0.000000 0 transition T C T>C 0.008 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.32178217 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 404.0 . . . . . . . . . . -0.2631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,240 +rs879207861 19 55282171 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282171 55282171 Chr19(GRCh37):g.55282171T>C *18143 *18143 NM_001291695.1:c.*18143T>C p.? p.? 8 604953 18287 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs879207861 no no 0 0.000000 0 transition T C T>C 0.008 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.32178217 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 404.0 . . . . . . . . . . -0.2631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,240 +rs879136560 19 55282172 A T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282172 55282172 Chr19(GRCh37):g.55282172A>T 35-129 35-129 NM_014218.2:c.35-129A>T p.? p.? 2 1 604936 -129 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs879136560 no no 0 0.000000 0 transversion A T A>T 0.008 -0.037 198 PASS . . . . . . . . . . . . . . . . 0.1525 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.3405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs879136560 19 55282172 A T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282172 55282172 Chr19(GRCh37):g.55282172A>T 35-129 35-129 NM_014219.2:c.35-129A>T p.? p.? 2 1 604937 -129 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs879136560 no no 0 0.000000 0 transversion A T A>T 0.008 -0.037 198 PASS . . . . . . . . . . . . . . . . 0.1525 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.3405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs879136560 19 55282172 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282172 55282172 Chr19(GRCh37):g.55282172A>T *18144 *18144 NM_001291695.1:c.*18144A>T p.? p.? 8 604953 18288 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs879136560 no no 0 0.000000 0 transversion A T A>T 0.008 -0.037 198 PASS . . . . . . . . . . . . . . . . 0.1525 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.3405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs138903845 19 55282191 A C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282191 55282191 Chr19(GRCh37):g.55282191A>C 35-110 35-110 NM_014218.2:c.35-110A>C p.? p.? 2 1 604936 -110 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs138903845 no no 0 0.000000 0 transversion A C A>C 0.630 0.609 255 PASS . . . . . . . . . . . . . . . . 0.39379475 . . @ 165 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 419.0 . . . . . . . . . . -0.2927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic\x3bsplicing . . . @ . . . 0.35 0.28 182 ENSG00000215765 GQ422373 LOC101928804\x3bLOC101928804 . . NR_110738:exon2:c.240+2T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138903845 rs138903845 1 1538 10 1/0 0,192,235 +rs138903845 19 55282191 A C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282191 55282191 Chr19(GRCh37):g.55282191A>C 35-110 35-110 NM_014219.2:c.35-110A>C p.? p.? 2 1 604937 -110 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs138903845 no no 0 0.000000 0 transversion A C A>C 0.630 0.609 255 PASS . . . . . . . . . . . . . . . . 0.39379475 . . @ 165 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 419.0 . . . . . . . . . . -0.2927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic\x3bsplicing . . . @ . . . 0.35 0.28 182 ENSG00000215765 GQ422373 LOC101928804\x3bLOC101928804 . . NR_110738:exon2:c.240+2T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138903845 rs138903845 1 1538 10 1/0 0,192,235 +rs138903845 19 55282191 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282191 55282191 Chr19(GRCh37):g.55282191A>C *18163 *18163 NM_001291695.1:c.*18163A>C p.? p.? 8 604953 18307 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs138903845 no no 0 0.000000 0 transversion A C A>C 0.630 0.609 255 PASS . . . . . . . . . . . . . . . . 0.39379475 . . @ 165 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 419.0 . . . . . . . . . . -0.2927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic\x3bsplicing . . . @ . . . 0.35 0.28 182 ENSG00000215765 GQ422373 LOC101928804\x3bLOC101928804 . . NR_110738:exon2:c.240+2T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138903845 rs138903845 1 1538 10 1/0 0,192,235 +rs199664786 19 55282204 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282204 55282204 Chr19(GRCh37):g.55282204G>C 35-97 35-97 NM_014218.2:c.35-97G>C p.? p.? 2 1 604936 -97 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs199664786 no no 0 0.000000 0 transversion G C G>C 0.000 -0.763 240 PASS . . . . . . . . . . . . . . . . 0.2737819 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 431.0 . . . . . . . . . . -0.7510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.38 0.27 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs75841906 rs199664786 1 1538 10 1/0 0,180,255 +rs199664786 19 55282204 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282204 55282204 Chr19(GRCh37):g.55282204G>C 35-97 35-97 NM_014219.2:c.35-97G>C p.? p.? 2 1 604937 -97 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs199664786 no no 0 0.000000 0 transversion G C G>C 0.000 -0.763 240 PASS . . . . . . . . . . . . . . . . 0.2737819 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 431.0 . . . . . . . . . . -0.7510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.38 0.27 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs75841906 rs199664786 1 1538 10 1/0 0,180,255 +rs199664786 19 55282204 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282204 55282204 Chr19(GRCh37):g.55282204G>C *18176 *18176 NM_001291695.1:c.*18176G>C p.? p.? 8 604953 18320 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs199664786 no no 0 0.000000 0 transversion G C G>C 0.000 -0.763 240 PASS . . . . . . . . . . . . . . . . 0.2737819 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 431.0 . . . . . . . . . . -0.7510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.38 0.27 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs75841906 rs199664786 1 1538 10 1/0 0,180,255 +rs758609654 19 55282251 T A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282251 55282251 Chr19(GRCh37):g.55282251T>A 35-50 35-50 NM_014218.2:c.35-50T>A p.? p.? 2 1 604936 -50 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 8.96812 0 rs758609654 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000028 1 0 0 0 0 0 1 0 0 85912 7892 13966 1380 12616 7400 35498 5434 1726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -2.054 223 PASS . . . . . . . . . . . . . . . . 0.2218845 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 329.0 . . . . . . . . . . -0.9611 . . . . . . . . 2.313e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,187,255 +rs758609654 19 55282251 T A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282251 55282251 Chr19(GRCh37):g.55282251T>A 35-50 35-50 NM_014219.2:c.35-50T>A p.? p.? 2 1 604937 -50 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 8.96812 0 rs758609654 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000028 1 0 0 0 0 0 1 0 0 85912 7892 13966 1380 12616 7400 35498 5434 1726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -2.054 223 PASS . . . . . . . . . . . . . . . . 0.2218845 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 329.0 . . . . . . . . . . -0.9611 . . . . . . . . 2.313e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,187,255 +rs758609654 19 55282251 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282251 55282251 Chr19(GRCh37):g.55282251T>A *18223 *18223 NM_001291695.1:c.*18223T>A p.? p.? 8 604953 18367 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs758609654 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000028 1 0 0 0 0 0 1 0 0 85912 7892 13966 1380 12616 7400 35498 5434 1726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -2.054 223 PASS . . . . . . . . . . . . . . . . 0.2218845 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 329.0 . . . . . . . . . . -0.9611 . . . . . . . . 2.313e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,187,255 +rs778022920 19 55282253 C T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282253 55282253 Chr19(GRCh37):g.55282253C>T 35-48 35-48 NM_014218.2:c.35-48C>T p.? p.? 2 1 604936 -48 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.43308 0 Cryptic Acceptor Weakly Activated 55282270 10.1254 0.621406 85.9346 X.56 0.779744 85.9346 transition C T C>T 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.18639053 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 338.0 . . . . . . . . . . -0.6465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs778022920 19 55282253 C T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282253 55282253 Chr19(GRCh37):g.55282253C>T 35-48 35-48 NM_014219.2:c.35-48C>T p.? p.? 2 1 604937 -48 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.43308 0 Cryptic Acceptor Weakly Activated 55282270 10.1254 0.621406 85.9346 X.56 0.779744 85.9346 transition C T C>T 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.18639053 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 338.0 . . . . . . . . . . -0.6465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs778022920 19 55282253 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282253 55282253 Chr19(GRCh37):g.55282253C>T *18225 *18225 NM_001291695.1:c.*18225C>T p.? p.? 8 604953 18369 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Weakly Activated 55282270 10.1254 0.621406 85.9346 X.56 0.779744 85.9346 transition C T C>T 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.18639053 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 338.0 . . . . . . . . . . -0.6465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +. 19 55282274 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282274 55282274 Chr19(GRCh37):g.55282274G>A 35-27 35-27 NM_014218.2:c.35-27G>A p.? p.? 2 1 604936 -27 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.39587 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105184 7858 15920 1810 13332 9070 45758 9404 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Exomes transition G A G>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11985019 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.4615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +. 19 55282274 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282274 55282274 Chr19(GRCh37):g.55282274G>A 35-27 35-27 NM_014219.2:c.35-27G>A p.? p.? 2 1 604937 -27 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.39587 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105184 7858 15920 1810 13332 9070 45758 9404 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Exomes transition G A G>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11985019 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.4615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +. 19 55282274 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282274 55282274 Chr19(GRCh37):g.55282274G>A *18246 *18246 NM_001291695.1:c.*18246G>A p.? p.? 8 604953 18390 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105184 7858 15920 1810 13332 9070 45758 9404 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Exomes transition G A G>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11985019 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.4615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +. 19 55284882 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55284882 55284882 Chr19(GRCh37):g.55284882A>G 168 168 NM_014218.2:c.168A>G p.Glu56= p.Glu56Glu 3 604936 98 3' 80.8813 8.86552 0.902226 11.0014 80.8813 8.86552 0.902226 11.0014 0 Immunoglobulin Immunoglobulin subtype rs76075498 yes no Frequency 1 0.000000 0 0.000081 0.000096 0.000528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000174 0.000528 20 2 17 0 0 0 0 0 1 246512 20912 32168 8468 18504 27232 110806 22672 5750 0.000008 0.000000 0.000062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 18 2 15 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287231|COSM4287231 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition A G A>G 0.000 -1.086 E Glu GAA 0.417 E Glu GAG 0.583 56 230 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A168G:p.E56E . . 0.2434457 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.5013 . . . . . . . . 5.652e-05 . . . 0.0001 8.205e-05 0.0005 0 0 0 0 0 0.0001 7.01e-05 0.0005 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.923e-05 8.08e-05 0.0005 0 0 0 0 0.0002 0 0.0002 8.422e-05 0.0014 0 0 0 0 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs76075498 rs200038872 1 1538 10 1/0 0,196,250 +. (chr19:55284882 A/G) 19 55284882 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +. 19 55284882 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284882 55284882 Chr19(GRCh37):g.55284882A>G *20854 *20854 NM_001291695.1:c.*20854A>G p.? p.? 8 604953 20998 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs76075498 yes no Frequency 1 0.000000 0 0.000081 0.000096 0.000528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000174 0.000528 20 2 17 0 0 0 0 0 1 246512 20912 32168 8468 18504 27232 110806 22672 5750 0.000008 0.000000 0.000062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 18 2 15 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287231|COSM4287231 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition A G A>G 0.000 -1.086 230 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A168G:p.E56E . . 0.2434457 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.5013 . . . . . . . . 5.652e-05 . . . 0.0001 8.205e-05 0.0005 0 0 0 0 0 0.0001 7.01e-05 0.0005 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.923e-05 8.08e-05 0.0005 0 0 0 0 0.0002 0 0.0002 8.422e-05 0.0014 0 0 0 0 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs76075498 rs200038872 1 1538 10 1/0 0,196,250 +rs200839187 19 55284908 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284908 55284908 Chr19(GRCh37):g.55284908T>C 194 194 NM_014218.2:c.194T>C p.Met65Thr p.Met65Thr 3 604936 124 3' 80.8813 8.86552 0.902226 11.0014 80.8813 8.86552 0.902226 11.0014 0 Immunoglobulin Immunoglobulin subtype rs200839187 no no 0 0.000000 0 COSM4287232 Large intestine 0.000418 2391 transition T C T>C 0.000 -3.426 M Met ATG 1.000 T Thr ACG 0.116 65 7 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 249.90 0.00 Tolerated 0.14 3.IX good 2.232E-2 0.01862 251 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.T194C:p.M65T . . 0.30721003 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.011 . . 319.0 . . . . . . . . . . -2.7037 -2.729 -2.704 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.060 @ . . . 0.18 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.083 0.159 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.047 . . 0.117 . . . 0.008 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.033 . . . . . 0.047 . 0.200 . HET 0.68 . . . . . . . . . . . . . II.93 . . I.24 -2.48 . 1.000000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -3.650 -3.650000 . . 1.000000 . . 1.0E-251 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 -3.650 -0.490 . . . rs200839187 rs200839187 1 1538 10 1/0 0,194,235 +rs200839187 19 55284908 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284908 55284908 Chr19(GRCh37):g.55284908T>C 194 194 NM_014219.2:c.194T>C p.Lys65Thr p.Lys65Thr 3 604937 124 3' 80.8813 8.86552 0.902226 X.71 80.8813 8.86552 0.902226 X.71 0 rs200839187 no no 0 0.000000 0 COSM4287232 Large intestine 0.000418 2391 transition T C T>C 0.000 -3.426 K Lys AAG 0.575 T Thr ACG 0.116 65 11 1 -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 140.23 22.29 Tolerated 0.68 II.83 good 1.131E-1 0.1587 251 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.T194C:p.M65T . . 0.30721003 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.011 . . 319.0 . . . . . . . . . . -2.7037 -2.729 -2.704 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.060 @ . . . 0.18 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.083 0.159 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.047 . . 0.117 . . . 0.008 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.033 . . . . . 0.047 . 0.200 . HET 0.68 . . . . . . . . . . . . . II.93 . . I.24 -2.48 . 1.000000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -3.650 -3.650000 . . 1.000000 . . 1.0E-251 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 -3.650 -0.490 . . . rs200839187 rs200839187 1 1538 10 1/0 0,194,235 +rs200839187 19 55284908 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284908 55284908 Chr19(GRCh37):g.55284908T>C *20880 *20880 NM_001291695.1:c.*20880T>C p.? p.? 8 604953 21024 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200839187 no no 0 0.000000 0 COSM4287232 Large intestine 0.000418 2391 transition T C T>C 0.000 -3.426 251 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.T194C:p.M65T . . 0.30721003 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.011 . . 319.0 . . . . . . . . . . -2.7037 -2.729 -2.704 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.060 @ . . . 0.18 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.083 0.159 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.047 . . 0.117 . . . 0.008 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.033 . . . . . 0.047 . 0.200 . HET 0.68 . . . . . . . . . . . . . II.93 . . I.24 -2.48 . 1.000000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -3.650 -3.650000 . . 1.000000 . . 1.0E-251 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 -3.650 -0.490 . . . rs200839187 rs200839187 1 1538 10 1/0 0,194,235 +rs745536485 19 55284916 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284916 55284916 Chr19(GRCh37):g.55284916G>C 202 202 NM_014218.2:c.202G>C p.Asp68His p.Asp68His 3 604936 132 3' 80.8813 8.86552 0.902226 11.0014 80.8813 8.86552 0.902226 11.0014 0 Immunoglobulin Immunoglobulin subtype transversion G C G>C 0.000 -0.360 D Asp GAC 0.539 H His CAC 0.587 68 7 2 Macaque 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 147.42 IV.81 Tolerated 0.15 3.I good 4.564E-1 0.3985 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.G202C:p.D68H . . 0.32515338 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.161 . . 326.0 . . . . . . . . . . -0.9477 -1.154 -0.948 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.177 . . 0.283 . . . 0.256 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.341 . . 0.351 . . . . . . 0 0.384 . . . . . 0.045 . 0.455 . HET 0.03 . . . . . . . . . . . . . II.44 . . I.24 -1.93 . 0.000000 . . . . . . 0.030 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -0.374 -0.374000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.068 . 0.060 -0.374 -0.180 . . . . . 1 1538 10 1/0 0,194,235 +rs745536485 19 55284916 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284916 55284916 Chr19(GRCh37):g.55284916G>C 202 202 NM_014219.2:c.202G>C p.Asp68His p.Asp68His 3 604937 132 3' 80.8813 8.86552 0.902226 X.71 80.8813 8.86552 0.902226 X.71 0 transversion G C G>C 0.000 -0.360 D Asp GAC 0.539 H His CAC 0.587 68 11 5 Philippine tarsier 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 149.56 13.17 Tolerated 0.14 II.83 good 2.378E-1 0.2534 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.G202C:p.D68H . . 0.32515338 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.161 . . 326.0 . . . . . . . . . . -0.9477 -1.154 -0.948 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.177 . . 0.283 . . . 0.256 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.341 . . 0.351 . . . . . . 0 0.384 . . . . . 0.045 . 0.455 . HET 0.03 . . . . . . . . . . . . . II.44 . . I.24 -1.93 . 0.000000 . . . . . . 0.030 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -0.374 -0.374000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.068 . 0.060 -0.374 -0.180 . . . . . 1 1538 10 1/0 0,194,235 +rs745536485 19 55284916 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284916 55284916 Chr19(GRCh37):g.55284916G>C *20888 *20888 NM_001291695.1:c.*20888G>C p.? p.? 8 604953 21032 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion G C G>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.G202C:p.D68H . . 0.32515338 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.161 . . 326.0 . . . . . . . . . . -0.9477 -1.154 -0.948 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.177 . . 0.283 . . . 0.256 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.341 . . 0.351 . . . . . . 0 0.384 . . . . . 0.045 . 0.455 . HET 0.03 . . . . . . . . . . . . . II.44 . . I.24 -1.93 . 0.000000 . . . . . . 0.030 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -0.374 -0.374000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.068 . 0.060 -0.374 -0.180 . . . . . 1 1538 10 1/0 0,194,235 +rs201793527 19 55284939 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55284939 55284939 Chr19(GRCh37):g.55284939A>G 225 225 NM_014218.2:c.225A>G p.Glu75= p.Glu75Glu 3 604936 -146 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs201793527 yes no Frequency 1 0.000000 0 0.000064 0.000355 0.000060 0.000000 0.000000 0.000034 0.000041 0.000040 0.000000 0.000355 17 8 2 0 0 1 5 1 0 265458 22558 33198 9464 18608 29768 120740 24960 6162 0.000008 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 15 6 2 0 0 1 5 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287234 Large intestine 0.000418 2391 transition A G A>G 0.000 -0.844 E Glu GAA 0.417 E Glu GAG 0.583 75 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A225G:p.E75E . . 0.3483146 . . @ 124 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 356.0 . . . . . . . . . . -0.4244 . . . . . . . . 8.052e-05 . . . 0.0006 9.106e-05 0 0 0 2.466e-05 0 6.269e-05 0.0005 7.763e-05 0 0 0 5.708e-05 0 6.305e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 6.291e-05 6.168e-05 0 0 4.602e-05 3.707e-05 0 3.359e-05 0.0001 7.406e-05 0 0 0 0 7.798e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201793527 rs201793527 1 1538 10 1/0 0,193,231 +rs201793527 (chr19:55284939 A/G) 19 55284939 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs201793527 19 55284939 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284939 55284939 Chr19(GRCh37):g.55284939A>G *20911 *20911 NM_001291695.1:c.*20911A>G p.? p.? 8 604953 21055 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs201793527 yes no Frequency 1 0.000000 0 0.000064 0.000355 0.000060 0.000000 0.000000 0.000034 0.000041 0.000040 0.000000 0.000355 17 8 2 0 0 1 5 1 0 265458 22558 33198 9464 18608 29768 120740 24960 6162 0.000008 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 15 6 2 0 0 1 5 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287234 Large intestine 0.000418 2391 transition A G A>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A225G:p.E75E . . 0.3483146 . . @ 124 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 356.0 . . . . . . . . . . -0.4244 . . . . . . . . 8.052e-05 . . . 0.0006 9.106e-05 0 0 0 2.466e-05 0 6.269e-05 0.0005 7.763e-05 0 0 0 5.708e-05 0 6.305e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 6.291e-05 6.168e-05 0 0 4.602e-05 3.707e-05 0 3.359e-05 0.0001 7.406e-05 0 0 0 0 7.798e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201793527 rs201793527 1 1538 10 1/0 0,193,231 +rs200854975 19 55284943 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284943 55284943 Chr19(GRCh37):g.55284943C>A 229 229 NM_014218.2:c.229C>A p.His77Asn p.His77Asn 3 604936 -142 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs200854975 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265732 22662 33206 9472 18614 29768 120862 24978 6170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287235 Large intestine 0.000418 2391 transversion C A C>A 0.000 -0.440 H His CAT 0.413 N Asn AAT 0.464 77 7 4 Mouse 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 143.20 55.04 Tolerated 0.31 3.I good 6.322E-1 0.5759 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C229A:p.H77N . . 0.33426183 . . @ 120 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.089 . . 359.0 . . . . . . . . . . -0.9005 -1.187 -0.901 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.465e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.062 @ . . . 0.24 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.349 . . 0.241 . . . 0.588 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.552 . . 0.527 . . . . . . 0 0.784 . . . . . 0.062 . 0.411 . HET 0 . . . . . . . . . . . . . III.56 . . I.24 -2.38 . 0.000000 . . . . . . 0.016 . . . 6.648e-05 1.677e-05 0 0 0 0 2.78e-05 0 0 0.0001 7.338e-05 0 0 0 0 7.733e-05 0 . . 0.196 . -0.417 -0.417000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.004 . 0.152 . 0.274 -0.417 0.567 . . . rs200854975 rs200854975 1 1538 10 1/0 0,191,231 +rs200854975 19 55284943 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284943 55284943 Chr19(GRCh37):g.55284943C>A 229 229 NM_014219.2:c.229C>A p.His77Asn p.His77Asn 3 604937 -142 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 rs200854975 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265732 22662 33206 9472 18614 29768 120862 24978 6170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287235 Large intestine 0.000418 2391 transversion C A C>A 0.000 -0.440 H His CAT 0.413 N Asn AAT 0.464 77 11 7 Horse 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 353.86 0.00 Tolerated 0.1 III.26 good 7.847E-1 0.0183 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C229A:p.H77N . . 0.33426183 . . @ 120 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.089 . . 359.0 . . . . . . . . . . -0.9005 -1.187 -0.901 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.465e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.062 @ . . . 0.24 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.349 . . 0.241 . . . 0.588 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.552 . . 0.527 . . . . . . 0 0.784 . . . . . 0.062 . 0.411 . HET 0 . . . . . . . . . . . . . III.56 . . I.24 -2.38 . 0.000000 . . . . . . 0.016 . . . 6.648e-05 1.677e-05 0 0 0 0 2.78e-05 0 0 0.0001 7.338e-05 0 0 0 0 7.733e-05 0 . . 0.196 . -0.417 -0.417000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.004 . 0.152 . 0.274 -0.417 0.567 . . . rs200854975 rs200854975 1 1538 10 1/0 0,191,231 +rs200854975 19 55284943 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284943 55284943 Chr19(GRCh37):g.55284943C>A *20915 *20915 NM_001291695.1:c.*20915C>A p.? p.? 8 604953 21059 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200854975 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265732 22662 33206 9472 18614 29768 120862 24978 6170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287235 Large intestine 0.000418 2391 transversion C A C>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C229A:p.H77N . . 0.33426183 . . @ 120 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.089 . . 359.0 . . . . . . . . . . -0.9005 -1.187 -0.901 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.465e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.062 @ . . . 0.24 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.349 . . 0.241 . . . 0.588 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.552 . . 0.527 . . . . . . 0 0.784 . . . . . 0.062 . 0.411 . HET 0 . . . . . . . . . . . . . III.56 . . I.24 -2.38 . 0.000000 . . . . . . 0.016 . . . 6.648e-05 1.677e-05 0 0 0 0 2.78e-05 0 0 0.0001 7.338e-05 0 0 0 0 7.733e-05 0 . . 0.196 . -0.417 -0.417000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.004 . 0.152 . 0.274 -0.417 0.567 . . . rs200854975 rs200854975 1 1538 10 1/0 0,191,231 +rs150190837 19 55284944 A T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284944 55284944 Chr19(GRCh37):g.55284944A>T 230 230 NM_014218.2:c.230A>T p.His77Leu p.His77Leu 3 604936 -141 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Cryptic Acceptor Strongly Activated 55284961 1.37966 0.003241 65.9586 2.29237 0.005612 65.9586 Immunoglobulin Immunoglobulin subtype rs150190837 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265836 22692 33210 9472 18618 29768 120910 25000 6166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287236 Large intestine 0.000418 2391 transversion A T A>T 0.000 -0.037 H His CAT 0.413 L Leu CTT 0.129 77 7 4 Mouse -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 C0 143.20 0.00 Tolerated 0.68 3.I good 6.096E-1 0.5759 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A230T:p.H77L . . 0.33147633 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.098 . . 359.0 . . . . . . . . . . -0.8976 -1.088 -0.898 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.464e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.134 @ . . . 0.28 0.23 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.154 . . 0.178 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.936 . . 0 0 0 0 0 0 . 0.415 . . 0.324 . . . . . . 0 0.721 . . . . . 0.088 . 0.542 . HET 0 . . . . . . . . . . . . . III.67 . . I.24 0.0214 . 0.000000 . . . . . . 0.022 . . . 6.648e-05 1.677e-05 0 0 0 0 2.779e-05 0 0 0.0001 7.314e-05 0 0 0 0 7.711e-05 0 . . 0.196 . -0.040 -0.040000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.004 . 0.085 . 0.009 -0.040 0.679 . . . rs201991631 rs201991631 1 1538 10 1/0 0,191,234 +rs150190837 19 55284944 A T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284944 55284944 Chr19(GRCh37):g.55284944A>T 230 230 NM_014219.2:c.230A>T p.His77Leu p.His77Leu 3 604937 -141 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 Cryptic Acceptor Strongly Activated 55284962 1.47276 7,00E-06 63.0543 2.06654 1.2e-05 63.0543 rs150190837 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265836 22692 33210 9472 18618 29768 120910 25000 6166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287236 Large intestine 0.000418 2391 transversion A T A>T 0.000 -0.037 H His CAT 0.413 L Leu CTT 0.129 77 11 7 Horse -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 C0 353.86 0.00 Tolerated 0.05 III.26 bad 1.347E-3 0.0183 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A230T:p.H77L . . 0.33147633 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.098 . . 359.0 . . . . . . . . . . -0.8976 -1.088 -0.898 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.464e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.134 @ . . . 0.28 0.23 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.154 . . 0.178 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.936 . . 0 0 0 0 0 0 . 0.415 . . 0.324 . . . . . . 0 0.721 . . . . . 0.088 . 0.542 . HET 0 . . . . . . . . . . . . . III.67 . . I.24 0.0214 . 0.000000 . . . . . . 0.022 . . . 6.648e-05 1.677e-05 0 0 0 0 2.779e-05 0 0 0.0001 7.314e-05 0 0 0 0 7.711e-05 0 . . 0.196 . -0.040 -0.040000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.004 . 0.085 . 0.009 -0.040 0.679 . . . rs201991631 rs201991631 1 1538 10 1/0 0,191,234 +rs150190837 19 55284944 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284944 55284944 Chr19(GRCh37):g.55284944A>T *20916 *20916 NM_001291695.1:c.*20916A>T p.? p.? 8 604953 21060 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55284961 1.37966 0.003241 65.9586 2.29237 0.005612 65.9586 rs150190837 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265836 22692 33210 9472 18618 29768 120910 25000 6166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287236 Large intestine 0.000418 2391 transversion A T A>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A230T:p.H77L . . 0.33147633 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.098 . . 359.0 . . . . . . . . . . -0.8976 -1.088 -0.898 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.464e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.134 @ . . . 0.28 0.23 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.154 . . 0.178 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.936 . . 0 0 0 0 0 0 . 0.415 . . 0.324 . . . . . . 0 0.721 . . . . . 0.088 . 0.542 . HET 0 . . . . . . . . . . . . . III.67 . . I.24 0.0214 . 0.000000 . . . . . . 0.022 . . . 6.648e-05 1.677e-05 0 0 0 0 2.779e-05 0 0 0.0001 7.314e-05 0 0 0 0 7.711e-05 0 . . 0.196 . -0.040 -0.040000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.004 . 0.085 . 0.009 -0.040 0.679 . . . rs201991631 rs201991631 1 1538 10 1/0 0,191,234 +rs530076007 19 55284962 C G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284962 55284962 Chr19(GRCh37):g.55284962C>G 248 248 NM_014218.2:c.248C>G p.Ala83Gly p.Ala83Gly 3 604936 -123 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Cryptic Acceptor Strongly Activated 55284961 1.37966 0.003241 65.9586 1.62487 0.003948 65.9586 Immunoglobulin Immunoglobulin subtype rs530076007 no no 0 0.000000 0 COSM6413671 Thyroid 0.001339 747 transversion C G C>G 0.000 0.125 A Ala GCC 0.403 G Gly GGC 0.342 83 7 5 Opossum 0 0 0 0 0.74 8.I 9 31 3 60 C0 96.19 60.00 Tolerated 0.07 3.I bad 9.967E-3 0.013 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C248G:p.A83G . . 0.3603352 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.234 . . 358.0 . . . . . . . . . . -0.9359 -1.144 -0.936 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.139 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.351 . . 0.510 . . . 0.889 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.241 . . 0.403 . . . . . . 0 0.408 . . . . . 0.083 . 0.406 . HET 0.04 . . . . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.043 0.023 . 0.180 . 0.056 0.106 0.567 . . . . . 1 1538 10 1/0 0,194,234 +rs530076007 19 55284962 C G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284962 55284962 Chr19(GRCh37):g.55284962C>G 248 248 NM_014219.2:c.248C>G p.Ala83Gly p.Ala83Gly 3 604937 -123 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 Cryptic Acceptor Strongly Activated 55284962 1.47276 7,00E-06 63.0543 3.19228 0.000179 68.8128 rs530076007 no no 0 0.000000 0 COSM6413671 Thyroid 0.001339 747 transversion C G C>G 0.000 0.125 A Ala GCC 0.403 G Gly GGC 0.342 83 11 7 Opossum 0 0 0 0 0.74 8.I 9 31 3 60 C0 109.55 0.00 Tolerated 0.19 II.83 good 6.535E-1 0.06566 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C248G:p.A83G . . 0.3603352 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.234 . . 358.0 . . . . . . . . . . -0.9359 -1.144 -0.936 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.139 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.351 . . 0.510 . . . 0.889 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.241 . . 0.403 . . . . . . 0 0.408 . . . . . 0.083 . 0.406 . HET 0.04 . . . . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.043 0.023 . 0.180 . 0.056 0.106 0.567 . . . . . 1 1538 10 1/0 0,194,234 +rs530076007 19 55284962 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284962 55284962 Chr19(GRCh37):g.55284962C>G *20934 *20934 NM_001291695.1:c.*20934C>G p.? p.? 8 604953 21078 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55284961 1.37966 0.003241 65.9586 1.62487 0.003948 65.9586 rs530076007 no no 0 0.000000 0 COSM6413671 Thyroid 0.001339 747 transversion C G C>G 0.000 0.125 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C248G:p.A83G . . 0.3603352 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.234 . . 358.0 . . . . . . . . . . -0.9359 -1.144 -0.936 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.139 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.351 . . 0.510 . . . 0.889 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.241 . . 0.403 . . . . . . 0 0.408 . . . . . 0.083 . 0.406 . HET 0.04 . . . . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.043 0.023 . 0.180 . 0.056 0.106 0.567 . . . . . 1 1538 10 1/0 0,194,234 +rs79002558 19 55284976 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284976 55284976 Chr19(GRCh37):g.55284976A>G 262 262 NM_014218.2:c.262A>G p.Ser88Gly p.Ser88Gly 3 604936 -109 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs79002558 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000800 0.000000 0.001000 0.002000 0.000000 0.000906 0.000737 0.000361 0.000000 0.001396 0.000000 0.001496 0.000080 0.000482 0.001496 242 17 12 0 26 0 182 2 3 267194 23076 33256 9494 18630 29770 121656 25094 6218 0.000284 0.000260 0.000241 0.000000 0.000322 0.000000 0.000460 0.000000 0.000000 38 3 4 0 3 0 28 0 0 166 11 4 0 20 0 126 2 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132534|COSM4132534 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition A G A>G 0.000 -0.360 S Ser AGT 0.149 G Gly GGT 0.162 88 7 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 103.83 0.00 Tolerated 1 3.I good 9.063E-1 0.08213 255 PASS . . . . . 0.0008 0.0008 . 0.001 0.002 . . . KIR2DL1:NM_014218:exon3:c.A262G:p.S88G . . 0.37127373 . . @ 137 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.020 . . 369.0 . . . . . . . . . . -1.7661 -1.747 -1.766 c . . . . . 8.431e-04 . . . 0.0014 0.0010 0.0004 0.0014 0.0003 0.0014 0.0015 0 0.0011 0.0008 0.0004 0.0012 0.0003 0.0010 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . 0.139 0.0008 . . . 0.27 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . 45 0.000692563 64976 41 0.000683493 59986 Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.049 . . 0.370 . . . 0.008 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.093 . 0.263 . HET 1 . . 0.007 . . . . . . . . . . 4.0618 8.13E-4 . I.24 0.111 . 1.000000 . . . . . . 0.001 . . . 0.0010 0.0009 0.0004 0 0.0013 9.197e-05 0.0015 0.0006 0 0.0002 0.0009 0 0 0.0019 0 0.0016 0 . . 0.196 . -0.288 -0.288000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.085 . 0.000 -0.288 -2.168 . . . rs79002558 rs200302241 1 1538 10 1/0 0,194,233 +rs79002558 (chr19:55284976 A/G) 19 55284976 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs79002558 19 55284976 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284976 55284976 Chr19(GRCh37):g.55284976A>G *20948 *20948 NM_001291695.1:c.*20948A>G p.? p.? 8 604953 21092 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs79002558 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000800 0.000000 0.001000 0.002000 0.000000 0.000906 0.000737 0.000361 0.000000 0.001396 0.000000 0.001496 0.000080 0.000482 0.001496 242 17 12 0 26 0 182 2 3 267194 23076 33256 9494 18630 29770 121656 25094 6218 0.000284 0.000260 0.000241 0.000000 0.000322 0.000000 0.000460 0.000000 0.000000 38 3 4 0 3 0 28 0 0 166 11 4 0 20 0 126 2 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132534|COSM4132534 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition A G A>G 0.000 -0.360 255 PASS . . . . . 0.0008 0.0008 . 0.001 0.002 . . . KIR2DL1:NM_014218:exon3:c.A262G:p.S88G . . 0.37127373 . . @ 137 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.020 . . 369.0 . . . . . . . . . . -1.7661 -1.747 -1.766 c . . . . . 8.431e-04 . . . 0.0014 0.0010 0.0004 0.0014 0.0003 0.0014 0.0015 0 0.0011 0.0008 0.0004 0.0012 0.0003 0.0010 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . 0.139 0.0008 . . . 0.27 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . 45 0.000692563 64976 41 0.000683493 59986 Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.049 . . 0.370 . . . 0.008 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.093 . 0.263 . HET 1 . . 0.007 . . . . . . . . . . 4.0618 8.13E-4 . I.24 0.111 . 1.000000 . . . . . . 0.001 . . . 0.0010 0.0009 0.0004 0 0.0013 9.197e-05 0.0015 0.0006 0 0.0002 0.0009 0 0 0.0019 0 0.0016 0 . . 0.196 . -0.288 -0.288000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.085 . 0.000 -0.288 -2.168 . . . rs79002558 rs200302241 1 1538 10 1/0 0,194,233 +rs687485 19 55284986 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284986 55284986 Chr19(GRCh37):g.55284986C>A 272 272 NM_014218.2:c.272C>A p.Thr91Lys p.Thr91Lys 3 604936 -99 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs687485 yes no Frequency 1 0.000000 0 0.000038 0.000466 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000466 9 7 0 0 0 0 2 0 0 238752 15024 32470 9220 17066 29776 108146 21748 5302 0.333333 0.285714 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM5712917|COSM5712917|COSM5712917 Lung|Central nervous system|Breast 0.000419|0.001247|0.000408 2388|2405|2453 transversion C A C>A 0.000 0.125 T Thr ACG 0.116 K Lys AAG 0.575 91 7 4 Cow -1 -1 -1 0.71 0.33 8.VI 11.III 61 119 78 C0 176.19 8.XI Tolerated 0.48 3.I bad 8.834E-5 0.2867 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C272A:p.T91K . . 0.31880108 . . @ 117 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.274 . @ . . . . . 1 0.123 . . 367.0 . . . . . . . . . . -0.9601 -1.162 -0.960 c . . . . . 2.087e-04 . . . 0.0004 4.546e-05 0 0 0 0 0 0 0.0003 3.876e-05 0 0 0 1.9e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.264 . . exonic exonic exonic . . 0.139 @ . . . 0.29 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.294 . . 0.141 . . . 0.236 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.568 . . 0.584 . . . . . . 0 0.337 . . . . . 0.083 . 0.484 . HET 0.03 . 0.120 0.159 . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.023 . . . 0.0005 3.77e-05 0 0 0 0 1.849e-05 0 0 . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.028 . 0.001 0.106 -1.705 0.12 rs687485 rs687485 rs687485 rs117204680 1 1538 10 1/0 0,191,249 +rs687485 19 55284986 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284986 55284986 Chr19(GRCh37):g.55284986C>A 272 272 NM_014219.2:c.272C>A p.Met91Lys p.Met91Lys 3 604937 -99 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 New Acceptor Site 55284988 2.03467 2.7e-05 67.1402 rs687485 yes no Frequency 1 0.000000 0 0.000038 0.000466 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000466 9 7 0 0 0 0 2 0 0 238752 15024 32470 9220 17066 29776 108146 21748 5302 0.333333 0.285714 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM5712917|COSM5712917|COSM5712917 Lung|Central nervous system|Breast 0.000419|0.001247|0.000408 2388|2405|2453 transversion C A C>A 0.000 0.125 M Met ATG 1.000 K Lys AAG 0.575 91 11 3 Orangutan -1 -1 -3 0 0.33 5.VII 11.III 105 119 95 C0 168.08 8.XI Tolerated 0.92 II.83 good 2.483E-1 0.3595 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C272A:p.T91K . . 0.31880108 . . @ 117 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.274 . @ . . . . . 1 0.123 . . 367.0 . . . . . . . . . . -0.9601 -1.162 -0.960 c . . . . . 2.087e-04 . . . 0.0004 4.546e-05 0 0 0 0 0 0 0.0003 3.876e-05 0 0 0 1.9e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.264 . . exonic exonic exonic . . 0.139 @ . . . 0.29 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.294 . . 0.141 . . . 0.236 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.568 . . 0.584 . . . . . . 0 0.337 . . . . . 0.083 . 0.484 . HET 0.03 . 0.120 0.159 . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.023 . . . 0.0005 3.77e-05 0 0 0 0 1.849e-05 0 0 . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.028 . 0.001 0.106 -1.705 0.12 rs687485 rs687485 rs687485 rs117204680 1 1538 10 1/0 0,191,249 +rs687485 19 55284986 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284986 55284986 Chr19(GRCh37):g.55284986C>A *20958 *20958 NM_001291695.1:c.*20958C>A p.? p.? 8 604953 21102 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs687485 yes no Frequency 1 0.000000 0 0.000038 0.000466 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000466 9 7 0 0 0 0 2 0 0 238752 15024 32470 9220 17066 29776 108146 21748 5302 0.333333 0.285714 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM5712917|COSM5712917|COSM5712917 Lung|Central nervous system|Breast 0.000419|0.001247|0.000408 2388|2405|2453 transversion C A C>A 0.000 0.125 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C272A:p.T91K . . 0.31880108 . . @ 117 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.274 . @ . . . . . 1 0.123 . . 367.0 . . . . . . . . . . -0.9601 -1.162 -0.960 c . . . . . 2.087e-04 . . . 0.0004 4.546e-05 0 0 0 0 0 0 0.0003 3.876e-05 0 0 0 1.9e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.264 . . exonic exonic exonic . . 0.139 @ . . . 0.29 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.294 . . 0.141 . . . 0.236 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.568 . . 0.584 . . . . . . 0 0.337 . . . . . 0.083 . 0.484 . HET 0.03 . 0.120 0.159 . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.023 . . . 0.0005 3.77e-05 0 0 0 0 1.849e-05 0 0 . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.028 . 0.001 0.106 -1.705 0.12 rs687485 rs687485 rs687485 rs117204680 1 1538 10 1/0 0,191,249 +rs74415453 19 55284987 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55284987 55284987 Chr19(GRCh37):g.55284987G>A 273 273 NM_014218.2:c.273G>A p.Thr91= p.Thr91Thr 3 604936 -98 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs74415453 yes no Frequency/1000G 2 0.000000 0 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000187 0.000346 0.000090 0.000000 0.000107 0.000907 0.000082 0.000000 0.000000 0.000907 50 8 3 0 2 27 10 0 0 267370 23152 33270 9494 18644 29772 121728 25088 6222 0.000045 0.000173 0.000060 0.000000 0.000000 0.000067 0.000033 0.000000 0.000000 6 2 1 0 0 1 2 0 0 38 4 1 0 2 25 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287238|COSM4287238 Thyroid|Liver 0.001339|0.000844 747|2371 transition G A G>A 0.000 -1.409 T Thr ACG 0.116 T Thr ACA 0.280 91 255 PASS . 0. . . . 0.0015 0.0004 . . . . . . KIR2DL1:NM_014218:exon3:c.G273A:p.T91T . . 0.3852459 . . @ 141 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 366.0 . . . . . . . . . . -0.5625 . . . . . . . . 2.007e-04 . . . 0.0003 0.0003 0.0002 0.0002 0 4.921e-05 0 0.0009 0.0003 0.0002 0.0002 0.0003 0 5.699e-05 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.25 0.22 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 9.238e-05 0 0.0001 0 6.478e-05 0 0.0009 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs74415453 rs202151900 1 1538 10 1/0 0,196,233 +rs74415453 19 55284987 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284987 55284987 Chr19(GRCh37):g.55284987G>A 273 273 NM_014219.2:c.273G>A p.Met91Ile p.Met91Ile 3 604937 -98 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 rs74415453 yes no Frequency/1000G 2 0.000000 0 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000187 0.000346 0.000090 0.000000 0.000107 0.000907 0.000082 0.000000 0.000000 0.000907 50 8 3 0 2 27 10 0 0 267370 23152 33270 9494 18644 29772 121728 25088 6222 0.000045 0.000173 0.000060 0.000000 0.000000 0.000067 0.000033 0.000000 0.000000 6 2 1 0 0 1 2 0 0 38 4 1 0 2 25 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287238|COSM4287238 Thyroid|Liver 0.001339|0.000844 747|2371 transition G A G>A 0.000 -1.409 M Met ATG 1.000 I Ile ATA 0.163 91 11 3 Orangutan 2 1 2 0 0 5.VII 5.II 105 111 10 C0 168.08 0.00 Tolerated 0.27 II.83 good 4.315E-1 0.3595 255 PASS . 0. . . . 0.0015 0.0004 . . . . . . KIR2DL1:NM_014218:exon3:c.G273A:p.T91T . . 0.3852459 . . @ 141 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 366.0 . . . . . . . . . . -0.5625 . . . . . . . . 2.007e-04 . . . 0.0003 0.0003 0.0002 0.0002 0 4.921e-05 0 0.0009 0.0003 0.0002 0.0002 0.0003 0 5.699e-05 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.25 0.22 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 9.238e-05 0 0.0001 0 6.478e-05 0 0.0009 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs74415453 rs202151900 1 1538 10 1/0 0,196,233 +rs74415453 19 55284987 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284987 55284987 Chr19(GRCh37):g.55284987G>A *20959 *20959 NM_001291695.1:c.*20959G>A p.? p.? 8 604953 21103 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs74415453 yes no Frequency/1000G 2 0.000000 0 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000187 0.000346 0.000090 0.000000 0.000107 0.000907 0.000082 0.000000 0.000000 0.000907 50 8 3 0 2 27 10 0 0 267370 23152 33270 9494 18644 29772 121728 25088 6222 0.000045 0.000173 0.000060 0.000000 0.000000 0.000067 0.000033 0.000000 0.000000 6 2 1 0 0 1 2 0 0 38 4 1 0 2 25 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287238|COSM4287238 Thyroid|Liver 0.001339|0.000844 747|2371 transition G A G>A 0.000 -1.409 255 PASS . 0. . . . 0.0015 0.0004 . . . . . . KIR2DL1:NM_014218:exon3:c.G273A:p.T91T . . 0.3852459 . . @ 141 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 366.0 . . . . . . . . . . -0.5625 . . . . . . . . 2.007e-04 . . . 0.0003 0.0003 0.0002 0.0002 0 4.921e-05 0 0.0009 0.0003 0.0002 0.0002 0.0003 0 5.699e-05 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.25 0.22 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 9.238e-05 0 0.0001 0 6.478e-05 0 0.0009 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs74415453 rs202151900 1 1538 10 1/0 0,196,233 +rs574769826 19 55286677 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286677 55286677 Chr19(GRCh37):g.55286677A>G 431 431 NM_014218.2:c.431A>G p.Asn144Ser p.Asn144Ser 4 604936 61 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0105 0 Immunoglobulin Immunoglobulin subtype rs574769826 yes no Frequency/1000G 2 0.010184 G 51 0.010184 0.003000 0.034800 0.003000 0.004000 0.008600 0.000041 0.000000 0.000096 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000096 10 0 3 0 0 0 7 0 0 242466 19966 31246 8440 18314 24656 110784 23546 5514 0.000025 0.000000 0.000064 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 3 0 1 0 0 0 2 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4132535|COSM4132535 Thyroid|Central nervous system 0.005355|0.000416 747|2405 transition A G A>G 0.063 -0.037 N Asn AAT 0.464 S Ser AGT 0.149 144 7 4 Cow 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 96.23 0.00 Tolerated 0.87 3.I good 5.869E-1 0.02409 240 PASS . . . . . 0.003 0.01 0.0086 0.003 0.004 0.035 . . KIR2DL1:NM_014218:exon4:c.A431G:p.N144S . . 0.27235773 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.018 . . 246.0 . . . . . . . . . . -1.4689 -1.562 -1.469 c . . . . . 1.012e-04 . . . 0 0.0001 0.0002 0.0002 0 0.0002 0 0 0 0.0001 0.0002 0.0001 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.164 . . exonic exonic exonic . . 0.132 0.0102 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.113 . . 0.361 . . . 0.389 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.597 . . 0 0 0 0 0 0 . 0.067 . . 0.133 . . . . . . 0 0.056 . . . . . 0.062 . 0.296 . HET 0.48 . . . . . . . . . . . . . 3.203 . . 1.I -0.0225 . 0.340000 . . . . . . 0.020 . . . 0 4.587e-05 9.83e-05 0 0 0 7.047e-05 0 0 0 0 0 0 0 0 0 0 . . 0.133 . -0.053 -0.053000 . . 0.340000 . . 1.0E-240 0.003 0.159 . 0.062 0.454 . 0.133 . 0.069 -0.053 0.679 . . . . . 1 1538 10 1/0 0,201,244 +rs574769826 (chr19:55286677 A/G) 19 55286677 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs574769826 19 55286677 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286677 55286677 Chr19(GRCh37):g.55286677A>G *22649 *22649 NM_001291695.1:c.*22649A>G p.? p.? 8 604953 22793 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs574769826 yes no Frequency/1000G 2 0.010184 G 51 0.010184 0.003000 0.034800 0.003000 0.004000 0.008600 0.000041 0.000000 0.000096 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000096 10 0 3 0 0 0 7 0 0 242466 19966 31246 8440 18314 24656 110784 23546 5514 0.000025 0.000000 0.000064 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 3 0 1 0 0 0 2 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4132535|COSM4132535 Thyroid|Central nervous system 0.005355|0.000416 747|2405 transition A G A>G 0.063 -0.037 240 PASS . . . . . 0.003 0.01 0.0086 0.003 0.004 0.035 . . KIR2DL1:NM_014218:exon4:c.A431G:p.N144S . . 0.27235773 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.018 . . 246.0 . . . . . . . . . . -1.4689 -1.562 -1.469 c . . . . . 1.012e-04 . . . 0 0.0001 0.0002 0.0002 0 0.0002 0 0 0 0.0001 0.0002 0.0001 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.164 . . exonic exonic exonic . . 0.132 0.0102 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.113 . . 0.361 . . . 0.389 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.597 . . 0 0 0 0 0 0 . 0.067 . . 0.133 . . . . . . 0 0.056 . . . . . 0.062 . 0.296 . HET 0.48 . . . . . . . . . . . . . 3.203 . . 1.I -0.0225 . 0.340000 . . . . . . 0.020 . . . 0 4.587e-05 9.83e-05 0 0 0 7.047e-05 0 0 0 0 0 0 0 0 0 0 . . 0.133 . -0.053 -0.053000 . . 0.340000 . . 1.0E-240 0.003 0.159 . 0.062 0.454 . 0.133 . 0.069 -0.053 0.679 . . . . . 1 1538 10 1/0 0,201,244 +rs540306776 19 55286678 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286678 55286678 Chr19(GRCh37):g.55286678T>C 432 432 NM_014218.2:c.432T>C p.Asn144= p.Asn144Asn 4 604936 62 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.2788 0 Immunoglobulin Immunoglobulin subtype rs540306776 yes no Frequency/1000G 2 0.000000 0 0.010184 0.003000 0.034800 0.003000 0.004000 0.008600 0.000049 0.000100 0.000096 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000100 12 2 3 0 0 0 7 0 0 242476 19970 31250 8438 18316 24660 110782 23554 5506 0.000033 0.000100 0.000064 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 4 1 1 0 0 0 2 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM2885456 Thyroid 0.005355 747 transition T C T>C 0.055 -1.732 N Asn AAT 0.464 N Asn AAC 0.536 144 255 PASS . . . . . 0.003 0.01 0.0086 0.003 0.004 0.035 . . KIR2DL1:NM_014218:exon4:c.T432C:p.N144N . . 0.34306568 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 274.0 . . . . . . . . . . -0.8276 . . . . . . . . 9.280e-05 . . . 0 0.0001 0.0002 0.0002 0 0.0001 0 0 0 0.0001 0.0002 0.0001 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0102 . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 5.504e-05 9.829e-05 0 0 0 7.046e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,201,229 +rs540306776 (chr19:55286678 T/C) 19 55286678 T C Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs540306776 19 55286678 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286678 55286678 Chr19(GRCh37):g.55286678T>C *22650 *22650 NM_001291695.1:c.*22650T>C p.? p.? 8 604953 22794 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs540306776 yes no Frequency/1000G 2 0.000000 0 0.010184 0.003000 0.034800 0.003000 0.004000 0.008600 0.000049 0.000100 0.000096 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000100 12 2 3 0 0 0 7 0 0 242476 19970 31250 8438 18316 24660 110782 23554 5506 0.000033 0.000100 0.000064 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 4 1 1 0 0 0 2 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM2885456 Thyroid 0.005355 747 transition T C T>C 0.055 -1.732 255 PASS . . . . . 0.003 0.01 0.0086 0.003 0.004 0.035 . . KIR2DL1:NM_014218:exon4:c.T432C:p.N144N . . 0.34306568 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 274.0 . . . . . . . . . . -0.8276 . . . . . . . . 9.280e-05 . . . 0 0.0001 0.0002 0.0002 0 0.0001 0 0 0 0.0001 0.0002 0.0001 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0102 . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 5.504e-05 9.829e-05 0 0 0 7.046e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,201,229 +rs199868260 19 55286700 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286700 55286700 Chr19(GRCh37):g.55286700C>A 454 454 NM_014218.2:c.454C>A p.Arg152= p.Arg152Arg 4 604936 84 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype transversion C A C>A 0.000 -1.409 R Arg CGG 0.207 R Arg AGG 0.207 152 175 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C454A:p.R152R . . 0.10285714 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 350.0 . . . . . . . . . . -0.5326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0429 . . . 0.24 0.35 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +rs199868260 19 55286700 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286700 55286700 Chr19(GRCh37):g.55286700C>A 454 454 NM_014219.2:c.454C>A p.Arg152= p.Arg152Arg 4 604937 84 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 transversion C A C>A 0.000 -1.409 R Arg CGG 0.207 R Arg AGG 0.207 152 175 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C454A:p.R152R . . 0.10285714 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 350.0 . . . . . . . . . . -0.5326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0429 . . . 0.24 0.35 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +rs199868260 19 55286700 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286700 55286700 Chr19(GRCh37):g.55286700C>A *22672 *22672 NM_001291695.1:c.*22672C>A p.? p.? 8 604953 22816 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion C A C>A 0.000 -1.409 175 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C454A:p.R152R . . 0.10285714 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 350.0 . . . . . . . . . . -0.5326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0429 . . . 0.24 0.35 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +rs765401207 19 55286708 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286708 55286708 Chr19(GRCh37):g.55286708C>A 462 462 NM_014218.2:c.462C>A p.Ser154= p.Ser154Ser 4 604936 92 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype transversion C A C>A 0.000 -1.328 S Ser TCC 0.220 S Ser TCA 0.148 154 179 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C462A:p.S154S . . 0.11021505 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 372.0 . . . . . . . . . . -0.7058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +rs765401207 19 55286708 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286708 55286708 Chr19(GRCh37):g.55286708C>A 462 462 NM_014219.2:c.462C>A p.Ser154= p.Ser154Ser 4 604937 92 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 transversion C A C>A 0.000 -1.328 S Ser TCC 0.220 S Ser TCA 0.148 154 179 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C462A:p.S154S . . 0.11021505 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 372.0 . . . . . . . . . . -0.7058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +rs765401207 19 55286708 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286708 55286708 Chr19(GRCh37):g.55286708C>A *22680 *22680 NM_001291695.1:c.*22680C>A p.? p.? 8 604953 22824 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion C A C>A 0.000 -1.328 179 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C462A:p.S154S . . 0.11021505 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 372.0 . . . . . . . . . . -0.7058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +. 19 55286710 A T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286710 55286710 Chr19(GRCh37):g.55286710A>T 464 464 NM_014218.2:c.464A>T p.Tyr155Phe p.Tyr155Phe 4 604936 94 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype transversion A T A>T 0.000 -0.924 Y Tyr TAT 0.438 F Phe TTT 0.454 155 7 2 Opossum 3 3 4 0.2 0 6.II 5.II 136 132 22 C0 97.45 0.00 Tolerated 1 3.I good 9.8E-1 0.06224 169 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A464T:p.Y155F . . 0.105714284 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.020 . . 350.0 . . . . . . . . . . -1.8574 -1.915 -1.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.200 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.068 . . 0.366 . . . 0.013 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.119 . . 0.145 . . . . . . 0 0.150 . . . . . 0.032 . 0.309 . LowAF 0.76 . . . . . . . . . . . . . I.91 . . 1.I -2.21 . 0.680000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.948 -0.948000 . . 0.680000 . . 1.0E-169 0.001 0.137 . 0.074 0.018 . 0.066 . 0.045 -0.948 -1.238 . . . . . 1 1538 10 1/0 0,173,255 +. 19 55286710 A T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286710 55286710 Chr19(GRCh37):g.55286710A>T 464 464 NM_014219.2:c.464A>T p.Tyr155Phe p.Tyr155Phe 4 604937 94 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 transversion A T A>T 0.000 -0.924 Y Tyr TAT 0.438 F Phe TTT 0.454 155 11 3 Opossum 3 3 4 0.2 0 6.II 5.II 136 132 22 C0 262.28 0.00 Tolerated 0.85 II.83 good 9.847E-1 0.1253 169 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A464T:p.Y155F . . 0.105714284 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.020 . . 350.0 . . . . . . . . . . -1.8574 -1.915 -1.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.200 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.068 . . 0.366 . . . 0.013 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.119 . . 0.145 . . . . . . 0 0.150 . . . . . 0.032 . 0.309 . LowAF 0.76 . . . . . . . . . . . . . I.91 . . 1.I -2.21 . 0.680000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.948 -0.948000 . . 0.680000 . . 1.0E-169 0.001 0.137 . 0.074 0.018 . 0.066 . 0.045 -0.948 -1.238 . . . . . 1 1538 10 1/0 0,173,255 +. 19 55286710 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286710 55286710 Chr19(GRCh37):g.55286710A>T *22682 *22682 NM_001291695.1:c.*22682A>T p.? p.? 8 604953 22826 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion A T A>T 0.000 -0.924 169 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A464T:p.Y155F . . 0.105714284 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.020 . . 350.0 . . . . . . . . . . -1.8574 -1.915 -1.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.200 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.068 . . 0.366 . . . 0.013 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.119 . . 0.145 . . . . . . 0 0.150 . . . . . 0.032 . 0.309 . LowAF 0.76 . . . . . . . . . . . . . I.91 . . 1.I -2.21 . 0.680000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.948 -0.948000 . . 0.680000 . . 1.0E-169 0.001 0.137 . 0.074 0.018 . 0.066 . 0.045 -0.948 -1.238 . . . . . 1 1538 10 1/0 0,173,255 +rs377359808 19 55286735 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286735 55286735 Chr19(GRCh37):g.55286735A>G 489 489 NM_014218.2:c.489A>G p.Glu163= p.Glu163Glu 4 604936 119 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype rs377359808 yes no Frequency/1000G 2 0.000000 0 0.054713 0.038600 0.126800 0.016900 0.049700 0.046100 0.000045 0.000146 0.000000 0.000000 0.000059 0.000279 0.000000 0.000000 0.000000 0.000279 10 2 0 0 1 7 0 0 0 221898 13714 31152 8432 16910 25078 100962 20796 4854 0.200000 0.500000 0.000000 0.000000 0.000000 0.142857 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 6 0 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes transition A G A>G 0.000 -3.991 E Glu GAA 0.417 E Glu GAG 0.583 163 194 PASS . . . . . 0.039 0.055 0.046 0.017 0.05 0.13 . . KIR2DL1:NM_014218:exon4:c.A489G:p.E163E . . 0.14320388 . . @ 59 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 412.0 . . . . . . . . . . -1.1132 . . . . . . . . 9.291e-05 . . . 0.0002 9.99e-05 0 0.0002 0 0 0 0.0004 0.0003 8.441e-05 0 0.0001 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0547 . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.507e-05 0 0 5.914e-05 0 0 0 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs377359808 rs377359808 1 1538 10 1/0 0,169,255 +rs377359808 (chr19:55286735 A/G) 19 55286735 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs377359808 19 55286735 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286735 55286735 Chr19(GRCh37):g.55286735A>G *22707 *22707 NM_001291695.1:c.*22707A>G p.? p.? 8 604953 22851 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs377359808 yes no Frequency/1000G 2 0.000000 0 0.054713 0.038600 0.126800 0.016900 0.049700 0.046100 0.000045 0.000146 0.000000 0.000000 0.000059 0.000279 0.000000 0.000000 0.000000 0.000279 10 2 0 0 1 7 0 0 0 221898 13714 31152 8432 16910 25078 100962 20796 4854 0.200000 0.500000 0.000000 0.000000 0.000000 0.142857 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 6 0 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes transition A G A>G 0.000 -3.991 194 PASS . . . . . 0.039 0.055 0.046 0.017 0.05 0.13 . . KIR2DL1:NM_014218:exon4:c.A489G:p.E163E . . 0.14320388 . . @ 59 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 412.0 . . . . . . . . . . -1.1132 . . . . . . . . 9.291e-05 . . . 0.0002 9.99e-05 0 0.0002 0 0 0 0.0004 0.0003 8.441e-05 0 0.0001 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0547 . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.507e-05 0 0 5.914e-05 0 0 0 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs377359808 rs377359808 1 1538 10 1/0 0,169,255 +rs373043299 19 55286739 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286739 55286739 Chr19(GRCh37):g.55286739G>A 493 493 NM_014218.2:c.493G>A p.Glu165Lys p.Glu165Lys 4 604936 123 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype rs373043299 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000125 0.000819 0.000000 0.000000 0.000000 0.000000 0.000115 0.000000 0.000176 0.000819 31 17 0 0 0 0 13 0 1 247918 20756 31888 8678 18452 25078 113394 23982 5690 0.000065 0.000385 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 8 4 0 0 0 0 4 0 0 15 9 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8000 4107 12107 0 3 3 0 0.000729927 0.000247729 0 0.000729927 0.000247729 86 COSM3797519 Urinary tract 0.001488 672 transition G A G>A 0.000 0.932 E Glu GAG 0.583 K Lys AAG 0.575 165 7 2 Macaque 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 128.24 0.00 Tolerated 1 3.I good 8.766E-1 0.5687 175 PASS . . . . . 0.0008 0.0002 . . . . . . KIR2DL1:NM_014218:exon4:c.G493A:p.E165K . . 0.114164904 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.255 . @ . . . . . 1 0.451 . . 473.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . -0.7432 -0.937 -0.743 c . . . . . 1.605e-04 . . . 0.0014 0.0002 0 0 0 8.004e-05 0 0 0.0014 0.0002 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.195 0.0002 . . . 0.23 0.31 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.172 . . 0.226 . . . 0.304 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.408 . . 0 0 0 0 0 0 . 0.409 . . 0.338 . . . . . . 0 0.555 . . . . . 0.165 . 0.407 . LowAF 0.01 . . . . . . . ID\x3dCOSM3797519\x3bOCCURENCE\x3d1(urinary_tract) . . . . . V.29 2.87E-4 . 1.I 1.I . 0.000000 . . . . 0.000248 . 0.026 . . . 0.0012 0.0001 0 0 0 0 9.897e-05 0 0 0 0.0002 0 0 0 0 0.0002 0.0012 . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-175 0.008 0.178 . 0.016 0.027 . 0.188 . 0.276 0.924 -0.180 0.0007 . . rs373043299 rs373043299 1 1538 10 1/0 0,160,255 +rs373043299 19 55286739 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286739 55286739 Chr19(GRCh37):g.55286739G>A 493 493 NM_014219.2:c.493G>A p.Glu165Lys p.Glu165Lys 4 604937 123 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 rs373043299 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000125 0.000819 0.000000 0.000000 0.000000 0.000000 0.000115 0.000000 0.000176 0.000819 31 17 0 0 0 0 13 0 1 247918 20756 31888 8678 18452 25078 113394 23982 5690 0.000065 0.000385 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 8 4 0 0 0 0 4 0 0 15 9 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8000 4107 12107 0 3 3 0 0.000729927 0.000247729 0 0.000729927 0.000247729 86 COSM3797519 Urinary tract 0.001488 672 transition G A G>A 0.000 0.932 E Glu GAG 0.583 K Lys AAG 0.575 165 11 4 Horse 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.89 II.93 good 8.168E-1 0.6917 175 PASS . . . . . 0.0008 0.0002 . . . . . . KIR2DL1:NM_014218:exon4:c.G493A:p.E165K . . 0.114164904 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.255 . @ . . . . . 1 0.451 . . 473.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . -0.7432 -0.937 -0.743 c . . . . . 1.605e-04 . . . 0.0014 0.0002 0 0 0 8.004e-05 0 0 0.0014 0.0002 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.195 0.0002 . . . 0.23 0.31 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.172 . . 0.226 . . . 0.304 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.408 . . 0 0 0 0 0 0 . 0.409 . . 0.338 . . . . . . 0 0.555 . . . . . 0.165 . 0.407 . LowAF 0.01 . . . . . . . ID\x3dCOSM3797519\x3bOCCURENCE\x3d1(urinary_tract) . . . . . V.29 2.87E-4 . 1.I 1.I . 0.000000 . . . . 0.000248 . 0.026 . . . 0.0012 0.0001 0 0 0 0 9.897e-05 0 0 0 0.0002 0 0 0 0 0.0002 0.0012 . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-175 0.008 0.178 . 0.016 0.027 . 0.188 . 0.276 0.924 -0.180 0.0007 . . rs373043299 rs373043299 1 1538 10 1/0 0,160,255 +rs373043299 19 55286739 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286739 55286739 Chr19(GRCh37):g.55286739G>A *22711 *22711 NM_001291695.1:c.*22711G>A p.? p.? 8 604953 22855 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs373043299 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000125 0.000819 0.000000 0.000000 0.000000 0.000000 0.000115 0.000000 0.000176 0.000819 31 17 0 0 0 0 13 0 1 247918 20756 31888 8678 18452 25078 113394 23982 5690 0.000065 0.000385 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 8 4 0 0 0 0 4 0 0 15 9 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8000 4107 12107 0 3 3 0 0.000729927 0.000247729 0 0.000729927 0.000247729 86 COSM3797519 Urinary tract 0.001488 672 transition G A G>A 0.000 0.932 175 PASS . . . . . 0.0008 0.0002 . . . . . . KIR2DL1:NM_014218:exon4:c.G493A:p.E165K . . 0.114164904 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.255 . @ . . . . . 1 0.451 . . 473.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . -0.7432 -0.937 -0.743 c . . . . . 1.605e-04 . . . 0.0014 0.0002 0 0 0 8.004e-05 0 0 0.0014 0.0002 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.195 0.0002 . . . 0.23 0.31 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.172 . . 0.226 . . . 0.304 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.408 . . 0 0 0 0 0 0 . 0.409 . . 0.338 . . . . . . 0 0.555 . . . . . 0.165 . 0.407 . LowAF 0.01 . . . . . . . ID\x3dCOSM3797519\x3bOCCURENCE\x3d1(urinary_tract) . . . . . V.29 2.87E-4 . 1.I 1.I . 0.000000 . . . . 0.000248 . 0.026 . . . 0.0012 0.0001 0 0 0 0 9.897e-05 0 0 0 0.0002 0 0 0 0 0.0002 0.0012 . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-175 0.008 0.178 . 0.016 0.027 . 0.188 . 0.276 0.924 -0.180 0.0007 . . rs373043299 rs373043299 1 1538 10 1/0 0,160,255 +. 19 55286740 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286740 55286740 Chr19(GRCh37):g.55286740A>G 494 494 NM_014218.2:c.494A>G p.Glu165Gly p.Glu165Gly 4 604936 124 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype transition A G A>G 0.000 -1.893 E Glu GAG 0.583 G Gly GGG 0.250 165 7 2 Macaque -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 128.24 81.06 Tolerated 0.28 3.I good 6.28E-2 0.5687 191 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A494G:p.E165G . . 0.13646533 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.066 . . 447.0 . . . . . . . . . . -1.9942 -2.102 -1.994 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.092 . . 0.275 . . . 0.086 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.729 . . 0 0 0 0 0 0 . 0.188 . . 0.162 . . . . . . 0 0.144 . . . . . 0.038 . 0.314 . LowAF 0.28 . . . . . . . . . . . . . II.38 . . 1.I -2.21 . 0.200000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.051 -2.051000 . . 0.200000 . . 1.0E-191 0.000 0.063 . 0.016 0.024 . 0.015 . 0.012 -2.051 0.679 . . . . . 1 1538 10 1/0 0,165,255 +. 19 55286740 A G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286740 55286740 Chr19(GRCh37):g.55286740A>G 494 494 NM_014219.2:c.494A>G p.Glu165Gly p.Glu165Gly 4 604937 124 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 transition A G A>G 0.000 -1.893 E Glu GAG 0.583 G Gly GGG 0.250 165 11 4 Horse -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Tolerated 0.38 II.93 good 3.673E-1 0.6917 191 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A494G:p.E165G . . 0.13646533 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.066 . . 447.0 . . . . . . . . . . -1.9942 -2.102 -1.994 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.092 . . 0.275 . . . 0.086 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.729 . . 0 0 0 0 0 0 . 0.188 . . 0.162 . . . . . . 0 0.144 . . . . . 0.038 . 0.314 . LowAF 0.28 . . . . . . . . . . . . . II.38 . . 1.I -2.21 . 0.200000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.051 -2.051000 . . 0.200000 . . 1.0E-191 0.000 0.063 . 0.016 0.024 . 0.015 . 0.012 -2.051 0.679 . . . . . 1 1538 10 1/0 0,165,255 +. 19 55286740 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286740 55286740 Chr19(GRCh37):g.55286740A>G *22712 *22712 NM_001291695.1:c.*22712A>G p.? p.? 8 604953 22856 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition A G A>G 0.000 -1.893 191 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A494G:p.E165G . . 0.13646533 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.066 . . 447.0 . . . . . . . . . . -1.9942 -2.102 -1.994 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.092 . . 0.275 . . . 0.086 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.729 . . 0 0 0 0 0 0 . 0.188 . . 0.162 . . . . . . 0 0.144 . . . . . 0.038 . 0.314 . LowAF 0.28 . . . . . . . . . . . . . II.38 . . 1.I -2.21 . 0.200000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.051 -2.051000 . . 0.200000 . . 1.0E-191 0.000 0.063 . 0.016 0.024 . 0.015 . 0.012 -2.051 0.679 . . . . . 1 1538 10 1/0 0,165,255 +rs377404034 19 55286752 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286752 55286752 Chr19(GRCh37):g.55286752G>C 506 506 NM_014218.2:c.506G>C p.Arg169Pro p.Arg169Pro 4 604936 136 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Cryptic Acceptor Strongly Activated 55286767 2.12548 0.455369 2.98257 0.587236 Immunoglobulin Immunoglobulin subtype rs377404034 yes no Frequency 1 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222114 13766 31162 8434 16906 25076 101106 20812 4852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transversion G C G>C 0.000 -2.216 R Arg CGT 0.082 P Pro CCT 0.283 169 7 4 Platypus -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 126.59 53.19 Tolerated 0.09 3.I bad 3.316E-5 0.01599 192 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G506C:p.R169P . . 0.13944224 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.120 . . 502.0 . . . . . . . . . . -1.7447 -1.858 -1.745 c . . . . . 8.456e-06 . . . 0 1.24e-05 0 0 0 2.662e-05 0 0 0 1.049e-05 0 0 0 2.04e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.065 @ . . . 0.29 0.37 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.094 . . 0.255 . . . 0.025 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.287 . . 0 0 0 0 0 0 . 0.135 . . 0.166 . . . . . . 0 0.506 . . . . . 0.004 . 0.379 . LowAF 0.06 . . . . . . . . . . . . . 0.4281 . . 1.I -2.21 . 0.090000 . . . . . . 0.009 . . . 0 4.502e-06 0 0 0 0 9.891e-06 0 0 . . . . . . . . . . 0.133 . -2.317 -2.317000 . . 0.090000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.000 . 0.013 . 0.047 -2.317 -1.702 . . . . . 1 1538 10 1/0 0,160,252 +rs377404034 19 55286752 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286752 55286752 Chr19(GRCh37):g.55286752G>C 506 506 NM_014219.2:c.506G>C p.Cys169Ser p.Cys169Ser 4 604937 136 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 Cryptic Acceptor Strongly Activated 55286767 3.09735 0.759119 3.74562 0.855596 rs377404034 yes no Frequency 1 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222114 13766 31162 8434 16906 25076 101106 20812 4852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transversion G C G>C 0.000 -2.216 C Cys TGT 0.448 S Ser TCT 0.185 169 11 2 Orangutan -1 -1 -2 II.75 I.42 5.V 9.II 55 32 112 C0 266.57 0.00 Tolerated 0.43 II.83 good 3.144E-1 0.3487 192 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G506C:p.R169P . . 0.13944224 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.120 . . 502.0 . . . . . . . . . . -1.7447 -1.858 -1.745 c . . . . . 8.456e-06 . . . 0 1.24e-05 0 0 0 2.662e-05 0 0 0 1.049e-05 0 0 0 2.04e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.065 @ . . . 0.29 0.37 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.094 . . 0.255 . . . 0.025 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.287 . . 0 0 0 0 0 0 . 0.135 . . 0.166 . . . . . . 0 0.506 . . . . . 0.004 . 0.379 . LowAF 0.06 . . . . . . . . . . . . . 0.4281 . . 1.I -2.21 . 0.090000 . . . . . . 0.009 . . . 0 4.502e-06 0 0 0 0 9.891e-06 0 0 . . . . . . . . . . 0.133 . -2.317 -2.317000 . . 0.090000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.000 . 0.013 . 0.047 -2.317 -1.702 . . . . . 1 1538 10 1/0 0,160,252 +rs377404034 19 55286752 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286752 55286752 Chr19(GRCh37):g.55286752G>C *22724 *22724 NM_001291695.1:c.*22724G>C p.? p.? 8 604953 22868 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55286767 2.12548 0.455369 2.98257 0.587236 rs377404034 yes no Frequency 1 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222114 13766 31162 8434 16906 25076 101106 20812 4852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transversion G C G>C 0.000 -2.216 192 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G506C:p.R169P . . 0.13944224 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.120 . . 502.0 . . . . . . . . . . -1.7447 -1.858 -1.745 c . . . . . 8.456e-06 . . . 0 1.24e-05 0 0 0 2.662e-05 0 0 0 1.049e-05 0 0 0 2.04e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.065 @ . . . 0.29 0.37 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.094 . . 0.255 . . . 0.025 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.287 . . 0 0 0 0 0 0 . 0.135 . . 0.166 . . . . . . 0 0.506 . . . . . 0.004 . 0.379 . LowAF 0.06 . . . . . . . . . . . . . 0.4281 . . 1.I -2.21 . 0.090000 . . . . . . 0.009 . . . 0 4.502e-06 0 0 0 0 9.891e-06 0 0 . . . . . . . . . . 0.133 . -2.317 -2.317000 . . 0.090000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.000 . 0.013 . 0.047 -2.317 -1.702 . . . . . 1 1538 10 1/0 0,160,252 +rs200746024 19 55286767 G T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286767 55286767 Chr19(GRCh37):g.55286767G>T 521 521 NM_014218.2:c.521G>T p.Gly174Val p.Gly174Val 4 604936 -144 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs200746024 yes no Frequency/1000G 2 0.000000 0 0.034345 0.063500 0.020400 0.021800 0.025800 0.028800 0.005005 0.008735 0.007444 0.001295 0.007337 0.001883 0.002018 0.016793 0.004410 0.016793 1175 162 216 11 117 46 223 376 24 234748 18546 29018 8494 15946 24428 110484 22390 5442 0.001014 0.001402 0.001999 0.000471 0.000627 0.000164 0.000453 0.003573 0.001103 119 13 29 2 5 2 25 40 3 937 136 158 7 107 42 173 296 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287246 Oesophagus 0.000712 1405 transversion G T G>T 0.000 -2.377 G Gly GGG 0.250 V Val GTG 0.468 174 7 2 Cow -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 152.96 0.00 Tolerated 0.49 3.I good 8.601E-1 0.254 185 PASS . . . . . 0.064 0.034 0.029 0.022 0.026 0.02 . . KIR2DL1:NM_014218:exon4:c.G521T:p.G174V . . 0.12228797 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.045 . . 507.0 . . . . . . . . . . -2.1362 -2.191 -2.136 c . . . . . 3.659e-03 . . . 0.0105 0.0033 0.0018 0.0042 0.0003 0.0030 0.0016 0.0008 0.0045 0.0010 0.0012 0.0021 0.0002 0.0003 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.231 . . exonic exonic exonic . . 0.065 0.0343 . . . 0.24 0.29 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.057 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.072 . . 0.214 . . . 0.039 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 0.049 . . . . . 0.063 . 0.374 . LowAF 1 . . . . . . . . . . . . . III.76 . . 1.I -2.21 . 1.000000 . . . . . . 0.004 . . . 0.0128 0.0055 0.0076 0.0013 0.0077 0.0194 0.0022 0.0050 0.0019 0.0014 0.0011 0.0014 0 0.0034 0.0003 0.0008 0.0012 . . 0.133 . -2.404 -2.404000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.001 . 0.043 . 0.012 -2.404 -1.542 . . . rs200746024 rs200746024 1 1538 10 1/0 0,158,255 +rs200746024 19 55286767 G T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286767 55286767 Chr19(GRCh37):g.55286767G>T 521 521 NM_014219.2:c.521G>T p.Gly174Val p.Gly174Val 4 604937 -144 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs200746024 yes no Frequency/1000G 2 0.000000 0 0.034345 0.063500 0.020400 0.021800 0.025800 0.028800 0.005005 0.008735 0.007444 0.001295 0.007337 0.001883 0.002018 0.016793 0.004410 0.016793 1175 162 216 11 117 46 223 376 24 234748 18546 29018 8494 15946 24428 110484 22390 5442 0.001014 0.001402 0.001999 0.000471 0.000627 0.000164 0.000453 0.003573 0.001103 119 13 29 2 5 2 25 40 3 937 136 158 7 107 42 173 296 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287246 Oesophagus 0.000712 1405 transversion G T G>T 0.000 -2.377 G Gly GGG 0.250 V Val GTG 0.468 174 11 2 Horse -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 353.86 0.00 Tolerated 0.65 II.87 good 9.447E-1 0.2513 185 PASS . . . . . 0.064 0.034 0.029 0.022 0.026 0.02 . . KIR2DL1:NM_014218:exon4:c.G521T:p.G174V . . 0.12228797 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.045 . . 507.0 . . . . . . . . . . -2.1362 -2.191 -2.136 c . . . . . 3.659e-03 . . . 0.0105 0.0033 0.0018 0.0042 0.0003 0.0030 0.0016 0.0008 0.0045 0.0010 0.0012 0.0021 0.0002 0.0003 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.231 . . exonic exonic exonic . . 0.065 0.0343 . . . 0.24 0.29 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.057 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.072 . . 0.214 . . . 0.039 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 0.049 . . . . . 0.063 . 0.374 . LowAF 1 . . . . . . . . . . . . . III.76 . . 1.I -2.21 . 1.000000 . . . . . . 0.004 . . . 0.0128 0.0055 0.0076 0.0013 0.0077 0.0194 0.0022 0.0050 0.0019 0.0014 0.0011 0.0014 0 0.0034 0.0003 0.0008 0.0012 . . 0.133 . -2.404 -2.404000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.001 . 0.043 . 0.012 -2.404 -1.542 . . . rs200746024 rs200746024 1 1538 10 1/0 0,158,255 +rs200746024 19 55286767 G T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286767 55286767 Chr19(GRCh37):g.55286767G>T *22739 *22739 NM_001291695.1:c.*22739G>T p.? p.? 8 604953 22883 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200746024 yes no Frequency/1000G 2 0.000000 0 0.034345 0.063500 0.020400 0.021800 0.025800 0.028800 0.005005 0.008735 0.007444 0.001295 0.007337 0.001883 0.002018 0.016793 0.004410 0.016793 1175 162 216 11 117 46 223 376 24 234748 18546 29018 8494 15946 24428 110484 22390 5442 0.001014 0.001402 0.001999 0.000471 0.000627 0.000164 0.000453 0.003573 0.001103 119 13 29 2 5 2 25 40 3 937 136 158 7 107 42 173 296 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287246 Oesophagus 0.000712 1405 transversion G T G>T 0.000 -2.377 185 PASS . . . . . 0.064 0.034 0.029 0.022 0.026 0.02 . . KIR2DL1:NM_014218:exon4:c.G521T:p.G174V . . 0.12228797 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.045 . . 507.0 . . . . . . . . . . -2.1362 -2.191 -2.136 c . . . . . 3.659e-03 . . . 0.0105 0.0033 0.0018 0.0042 0.0003 0.0030 0.0016 0.0008 0.0045 0.0010 0.0012 0.0021 0.0002 0.0003 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.231 . . exonic exonic exonic . . 0.065 0.0343 . . . 0.24 0.29 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.057 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.072 . . 0.214 . . . 0.039 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 0.049 . . . . . 0.063 . 0.374 . LowAF 1 . . . . . . . . . . . . . III.76 . . 1.I -2.21 . 1.000000 . . . . . . 0.004 . . . 0.0128 0.0055 0.0076 0.0013 0.0077 0.0194 0.0022 0.0050 0.0019 0.0014 0.0011 0.0014 0 0.0034 0.0003 0.0008 0.0012 . . 0.133 . -2.404 -2.404000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.001 . 0.043 . 0.012 -2.404 -1.542 . . . rs200746024 rs200746024 1 1538 10 1/0 0,158,255 +rs111799279 19 55286769 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286769 55286769 Chr19(GRCh37):g.55286769C>A 523 523 NM_014218.2:c.523C>A p.Pro175Thr p.Pro175Thr 4 604936 -142 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs111799279 yes no Frequency 1 0.000000 0 0.000088 0.000048 0.000313 0.000000 0.000054 0.000159 0.000044 0.000000 0.000175 0.000313 22 1 10 0 1 4 5 0 1 248598 20806 31942 8690 18462 25090 113892 24002 5714 0.000048 0.000000 0.000188 0.000000 0.000000 0.000080 0.000035 0.000000 0.000000 6 0 3 0 0 1 2 0 0 10 1 4 0 1 2 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8116 4183 12299 0 1 1 0 0.000239006 8.13008e-05 0 0.000239006 8.13008e-05 130 COSM6361468|COSM6361468 Thyroid|Large intestine 0.001339|0.000418 747|2391 transversion C A C>A 0.000 0.044 P Pro CCC 0.328 T Thr ACC 0.361 175 7 3 Platypus -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 75.14 0.00 Tolerated 0.4 3.I good 4.877E-1 0.05008 238 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C523A:p.P175T . . 0.26587301 . . @ 134 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.049 . . 504.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.3694 -1.493 -1.369 c . . . . . 1.685e-04 . . . 0.0003 0.0001 0.0002 0.0002 0 0.0001 0 7.438e-05 0.0001 7.336e-05 0.0002 0.0001 0 4.076e-05 0 7.482e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.131 @ . . . 0.21 0.25 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.135 . . 0.284 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.683 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.259 . . . . . 0.077 . 0.446 . HET 0.11 . 0.130 0.123 . . . . . . . . . . III.76 . . 1.I -0.0517 . 0.070000 . . . . 0.000081 . 0.017 . . . 0 8.55e-05 0.0003 0 5.914e-05 0 4.942e-05 0.0002 0.0002 0.0001 0.0001 0.0027 0 0 0 0 0 . . 0.133 . 0.052 0.052000 . . 0.070000 . . 1.0E-238 0.000 0.063 . 0.016 0.000 . 0.017 . 0.001 0.052 -3.249 0.13 . . rs74456429 rs111799279 1 1538 10 1/0 0,171,234 +rs111799279 19 55286769 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286769 55286769 Chr19(GRCh37):g.55286769C>A 523 523 NM_014219.2:c.523C>A p.Pro175Thr p.Pro175Thr 4 604937 -142 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs111799279 yes no Frequency 1 0.000000 0 0.000088 0.000048 0.000313 0.000000 0.000054 0.000159 0.000044 0.000000 0.000175 0.000313 22 1 10 0 1 4 5 0 1 248598 20806 31942 8690 18462 25090 113892 24002 5714 0.000048 0.000000 0.000188 0.000000 0.000000 0.000080 0.000035 0.000000 0.000000 6 0 3 0 0 1 2 0 0 10 1 4 0 1 2 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8116 4183 12299 0 1 1 0 0.000239006 8.13008e-05 0 0.000239006 8.13008e-05 130 COSM6361468|COSM6361468 Thyroid|Large intestine 0.001339|0.000418 747|2391 transversion C A C>A 0.000 0.044 P Pro CCC 0.328 T Thr ACC 0.361 175 11 3 Chicken -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Tolerated 0.75 II.87 good 4.478E-1 0.3067 238 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C523A:p.P175T . . 0.26587301 . . @ 134 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.049 . . 504.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.3694 -1.493 -1.369 c . . . . . 1.685e-04 . . . 0.0003 0.0001 0.0002 0.0002 0 0.0001 0 7.438e-05 0.0001 7.336e-05 0.0002 0.0001 0 4.076e-05 0 7.482e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.131 @ . . . 0.21 0.25 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.135 . . 0.284 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.683 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.259 . . . . . 0.077 . 0.446 . HET 0.11 . 0.130 0.123 . . . . . . . . . . III.76 . . 1.I -0.0517 . 0.070000 . . . . 0.000081 . 0.017 . . . 0 8.55e-05 0.0003 0 5.914e-05 0 4.942e-05 0.0002 0.0002 0.0001 0.0001 0.0027 0 0 0 0 0 . . 0.133 . 0.052 0.052000 . . 0.070000 . . 1.0E-238 0.000 0.063 . 0.016 0.000 . 0.017 . 0.001 0.052 -3.249 0.13 . . rs74456429 rs111799279 1 1538 10 1/0 0,171,234 +rs111799279 19 55286769 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286769 55286769 Chr19(GRCh37):g.55286769C>A *22741 *22741 NM_001291695.1:c.*22741C>A p.? p.? 8 604953 22885 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs111799279 yes no Frequency 1 0.000000 0 0.000088 0.000048 0.000313 0.000000 0.000054 0.000159 0.000044 0.000000 0.000175 0.000313 22 1 10 0 1 4 5 0 1 248598 20806 31942 8690 18462 25090 113892 24002 5714 0.000048 0.000000 0.000188 0.000000 0.000000 0.000080 0.000035 0.000000 0.000000 6 0 3 0 0 1 2 0 0 10 1 4 0 1 2 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8116 4183 12299 0 1 1 0 0.000239006 8.13008e-05 0 0.000239006 8.13008e-05 130 COSM6361468|COSM6361468 Thyroid|Large intestine 0.001339|0.000418 747|2391 transversion C A C>A 0.000 0.044 238 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C523A:p.P175T . . 0.26587301 . . @ 134 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.049 . . 504.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.3694 -1.493 -1.369 c . . . . . 1.685e-04 . . . 0.0003 0.0001 0.0002 0.0002 0 0.0001 0 7.438e-05 0.0001 7.336e-05 0.0002 0.0001 0 4.076e-05 0 7.482e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.131 @ . . . 0.21 0.25 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.135 . . 0.284 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.683 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.259 . . . . . 0.077 . 0.446 . HET 0.11 . 0.130 0.123 . . . . . . . . . . III.76 . . 1.I -0.0517 . 0.070000 . . . . 0.000081 . 0.017 . . . 0 8.55e-05 0.0003 0 5.914e-05 0 4.942e-05 0.0002 0.0002 0.0001 0.0001 0.0027 0 0 0 0 0 . . 0.133 . 0.052 0.052000 . . 0.070000 . . 1.0E-238 0.000 0.063 . 0.016 0.000 . 0.017 . 0.001 0.052 -3.249 0.13 . . rs74456429 rs111799279 1 1538 10 1/0 0,171,234 +rs551912555 19 55286773 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286773 55286773 Chr19(GRCh37):g.55286773A>G 527 527 NM_014218.2:c.527A>G p.Lys176Arg p.Lys176Arg 4 604936 -138 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs551912555 yes no Frequency/1000G 2 0.000000 0 0.028554 0.050700 0.020400 0.012900 0.024900 0.025900 transition A G A>G 0.000 0.044 K Lys AAG 0.575 R Arg AGG 0.207 176 7 1 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 177.20 0.00 Tolerated 0.59 3.I good 7.947E-1 0.6668 189 PASS . . . . . 0.051 0.029 0.026 0.013 0.025 0.02 . . KIR2DL1:NM_014218:exon4:c.A527G:p.K176R . . 0.13235295 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.077 . . 476.0 . . . . . . . . . . -1.5033 -1.565 -1.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.219 . . exonic exonic exonic . . 0.113 0.0286 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.091 . . 0.294 . . . 0.099 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.721 . . . . . 0.073 . 0.301 . LowAF 0.19 . . . . . . . . . . . . . III.02 . . 1.I -0.528 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.045 0.045000 . . 0.050000 . . 1.0E-189 0.000 0.063 . 0.016 0.002 . 0.165 . 0.015 0.045 -0.933 . . . . . 1 1538 10 1/0 0,162,255 +rs551912555 19 55286773 A G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286773 55286773 Chr19(GRCh37):g.55286773A>G 527 527 NM_014219.2:c.527A>G p.Lys176Arg p.Lys176Arg 4 604937 -138 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs551912555 yes no Frequency/1000G 2 0.000000 0 0.028554 0.050700 0.020400 0.012900 0.024900 0.025900 transition A G A>G 0.000 0.044 K Lys AAG 0.575 R Arg AGG 0.207 176 11 2 Orangutan 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 256.64 0.00 Tolerated 0.74 II.83 good 4.919E-1 0.5254 189 PASS . . . . . 0.051 0.029 0.026 0.013 0.025 0.02 . . KIR2DL1:NM_014218:exon4:c.A527G:p.K176R . . 0.13235295 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.077 . . 476.0 . . . . . . . . . . -1.5033 -1.565 -1.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.219 . . exonic exonic exonic . . 0.113 0.0286 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.091 . . 0.294 . . . 0.099 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.721 . . . . . 0.073 . 0.301 . LowAF 0.19 . . . . . . . . . . . . . III.02 . . 1.I -0.528 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.045 0.045000 . . 0.050000 . . 1.0E-189 0.000 0.063 . 0.016 0.002 . 0.165 . 0.015 0.045 -0.933 . . . . . 1 1538 10 1/0 0,162,255 +rs551912555 19 55286773 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286773 55286773 Chr19(GRCh37):g.55286773A>G *22745 *22745 NM_001291695.1:c.*22745A>G p.? p.? 8 604953 22889 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs551912555 yes no Frequency/1000G 2 0.000000 0 0.028554 0.050700 0.020400 0.012900 0.024900 0.025900 transition A G A>G 0.000 0.044 189 PASS . . . . . 0.051 0.029 0.026 0.013 0.025 0.02 . . KIR2DL1:NM_014218:exon4:c.A527G:p.K176R . . 0.13235295 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.077 . . 476.0 . . . . . . . . . . -1.5033 -1.565 -1.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.219 . . exonic exonic exonic . . 0.113 0.0286 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.091 . . 0.294 . . . 0.099 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.721 . . . . . 0.073 . 0.301 . LowAF 0.19 . . . . . . . . . . . . . III.02 . . 1.I -0.528 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.045 0.045000 . . 0.050000 . . 1.0E-189 0.000 0.063 . 0.016 0.002 . 0.165 . 0.015 0.045 -0.933 . . . . . 1 1538 10 1/0 0,162,255 +rs142432377 19 55286774 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286774 55286774 Chr19(GRCh37):g.55286774G>C 528 528 NM_014218.2:c.528G>C p.Lys176Asn p.Lys176Asn 4 604936 -137 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs142432377 yes no Frequency/1000G 2 0.000000 0 0.020168 0.037800 0.017400 0.005000 0.012900 0.023100 transversion G C G>C 0.000 0.044 K Lys AAG 0.575 N Asn AAC 0.536 176 7 1 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 177.20 0.00 Tolerated 0.49 3.I good 8.676E-1 0.6668 185 PASS . . . . . 0.038 0.02 0.023 0.005 0.013 0.017 . . KIR2DL1:NM_014218:exon4:c.G528C:p.K176N . . 0.12326044 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.238 . . 503.0 . . . . . . . . . . -1.0642 -1.223 -1.064 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.223 . . exonic exonic exonic . . 0.126 0.0202 . . . 0.25 0.28 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.197 . . . 0.303 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.324 . . 0.214 . . . . . . 0 0.721 . . . . . 0.131 . 0.264 . LowAF 0 . . . . . . . . . . . . . IV.47 . . 1.I -0.175 . 0.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.019 0.019000 . . 0.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.003 . 0.001 0.019 -1.417 . . . . . 1 1538 10 1/0 0,158,255 +rs142432377 19 55286774 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286774 55286774 Chr19(GRCh37):g.55286774G>C 528 528 NM_014219.2:c.528G>C p.Lys176Asn p.Lys176Asn 4 604937 -137 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 Cryptic Acceptor Strongly Activated 55286793 0.000779 70.8741 0.664269 0.001488 70.8741 rs142432377 yes no Frequency/1000G 2 0.000000 0 0.020168 0.037800 0.017400 0.005000 0.012900 0.023100 transversion G C G>C 0.000 0.044 K Lys AAG 0.575 N Asn AAC 0.536 176 11 2 Orangutan 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 256.64 IV.86 Tolerated 0.31 II.83 good 8.111E-1 0.5254 185 PASS . . . . . 0.038 0.02 0.023 0.005 0.013 0.017 . . KIR2DL1:NM_014218:exon4:c.G528C:p.K176N . . 0.12326044 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.238 . . 503.0 . . . . . . . . . . -1.0642 -1.223 -1.064 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.223 . . exonic exonic exonic . . 0.126 0.0202 . . . 0.25 0.28 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.197 . . . 0.303 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.324 . . 0.214 . . . . . . 0 0.721 . . . . . 0.131 . 0.264 . LowAF 0 . . . . . . . . . . . . . IV.47 . . 1.I -0.175 . 0.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.019 0.019000 . . 0.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.003 . 0.001 0.019 -1.417 . . . . . 1 1538 10 1/0 0,158,255 +rs142432377 19 55286774 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286774 55286774 Chr19(GRCh37):g.55286774G>C *22746 *22746 NM_001291695.1:c.*22746G>C p.? p.? 8 604953 22890 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs142432377 yes no Frequency/1000G 2 0.000000 0 0.020168 0.037800 0.017400 0.005000 0.012900 0.023100 transversion G C G>C 0.000 0.044 185 PASS . . . . . 0.038 0.02 0.023 0.005 0.013 0.017 . . KIR2DL1:NM_014218:exon4:c.G528C:p.K176N . . 0.12326044 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.238 . . 503.0 . . . . . . . . . . -1.0642 -1.223 -1.064 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.223 . . exonic exonic exonic . . 0.126 0.0202 . . . 0.25 0.28 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.197 . . . 0.303 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.324 . . 0.214 . . . . . . 0 0.721 . . . . . 0.131 . 0.264 . LowAF 0 . . . . . . . . . . . . . IV.47 . . 1.I -0.175 . 0.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.019 0.019000 . . 0.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.003 . 0.001 0.019 -1.417 . . . . . 1 1538 10 1/0 0,158,255 +rs749653872 19 55286780 C T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286780 55286780 Chr19(GRCh37):g.55286780C>T 534 534 NM_014218.2:c.534C>T p.Asn178= p.Asn178Asn 4 604936 -131 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Cryptic Donor Strongly Activated 55286774 2.22299 0.094133 71.8807 3.77335 0.155603 77.6593 Immunoglobulin Immunoglobulin subtype rs749653872 yes no Frequency 1 0.000000 0 0.000068 0.000049 0.000000 0.000000 0.000000 0.000000 0.000140 0.000000 0.000000 0.000140 17 1 0 0 0 0 16 0 0 248592 20612 31936 8690 18466 25124 114052 24004 5708 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 5 0 0 0 0 0 5 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.602 N Asn AAC 0.536 N Asn AAT 0.464 178 194 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C534T:p.N178N . . 0.14285715 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 504.0 . . . . . . . . . . -0.6018 . . . . . . . . 1.171e-04 . . . 0.0001 0.0001 0 0 0 0.0003 0 0 0.0001 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.303e-05 0 0 0 0 0.0001 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,160,255 +rs749653872 19 55286780 C T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286780 55286780 Chr19(GRCh37):g.55286780C>T 534 534 NM_014219.2:c.534C>T p.Asn178= p.Asn178Asn 4 604937 -131 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 Cryptic Donor Strongly Activated 55286774 2.22299 0.094133 71.8807 3.77335 0.155603 77.6593 rs749653872 yes no Frequency 1 0.000000 0 0.000068 0.000049 0.000000 0.000000 0.000000 0.000000 0.000140 0.000000 0.000000 0.000140 17 1 0 0 0 0 16 0 0 248592 20612 31936 8690 18466 25124 114052 24004 5708 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 5 0 0 0 0 0 5 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.602 N Asn AAC 0.536 N Asn AAT 0.464 178 194 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C534T:p.N178N . . 0.14285715 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 504.0 . . . . . . . . . . -0.6018 . . . . . . . . 1.171e-04 . . . 0.0001 0.0001 0 0 0 0.0003 0 0 0.0001 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.303e-05 0 0 0 0 0.0001 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,160,255 +rs749653872 19 55286780 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286780 55286780 Chr19(GRCh37):g.55286780C>T *22752 *22752 NM_001291695.1:c.*22752C>T p.? p.? 8 604953 22896 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55286774 2.22299 0.094133 71.8807 3.77335 0.155603 77.6593 rs749653872 yes no Frequency 1 0.000000 0 0.000068 0.000049 0.000000 0.000000 0.000000 0.000000 0.000140 0.000000 0.000000 0.000140 17 1 0 0 0 0 16 0 0 248592 20612 31936 8690 18466 25124 114052 24004 5708 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 5 0 0 0 0 0 5 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.602 194 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C534T:p.N178N . . 0.14285715 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 504.0 . . . . . . . . . . -0.6018 . . . . . . . . 1.171e-04 . . . 0.0001 0.0001 0 0 0 0.0003 0 0 0.0001 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.303e-05 0 0 0 0 0.0001 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,160,255 +rs62121640 19 55286781 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286781 55286781 Chr19(GRCh37):g.55286781G>A 535 535 NM_014218.2:c.535G>A p.Gly179Arg p.Gly179Arg 4 604936 -130 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs62121640 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000056 0.000097 0.000063 0.000230 0.000000 0.000279 0.000009 0.000000 0.000000 0.000279 14 2 2 2 0 7 1 0 0 248810 20682 31946 8690 18470 25132 114156 24022 5712 0.000032 0.000000 0.000000 0.000230 0.000000 0.000239 0.000000 0.000000 0.000000 4 0 0 1 0 3 0 0 0 6 2 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8302 4262 12564 2 0 2 0.000240848 0 0.00015916 0.000240848 0 0.00015916 139 COSM4287248 Large intestine 0.000836 2391 transition G A G>A 0.000 0.044 G Gly GGA 0.246 R Arg AGA 0.205 179 7 4 Mouse -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 242.52 0.00 Tolerated 0.87 III.33 good 7.582E-1 0.2208 255 PASS . . . . . . 0.0004 . . . 0.002 . . KIR2DL1:NM_014218:exon4:c.G535A:p.G179R . . 0.39520958 . . @ 198 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.040 . . 501.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.8274 -1.048 -0.827 c . . . . . 9.131e-05 . . . 0 0.0001 9.273e-05 0 0 7.961e-05 0 0.0005 0 0.0001 9.549e-05 0 0 6.107e-05 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.199 . . exonic exonic exonic . . 0.125 0.0004 . . . 0.32 0.36 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.151 . . 0.198 . . . 0.713 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.901 . . 0 0 0 0 0 0 . 0.473 . . 0.383 . . . . . . 0 0.105 . . . . . 0.129 . 0.553 . HET 0.31 . . . . . . . . . . . . . IV.13 . . 1.I -0.2 . 0.310000 . . . . 0.000159 . 0.020 . . . 7.364e-05 5.849e-05 6.412e-05 0.0002 0 0 9.87e-06 0 0.0003 0.0001 3.765e-05 0 0 0 0 0 0 . . 0.133 . 0.008 0.008000 . . 0.310000 . . 1.0E-255 0.003 0.159 . 0.043 0.004 . 0.188 . 0.055 0.008 0.150 0.0002 rs62121640 rs62121640 rs62121640 rs201609645 1 1538 10 1/0 0,183,218 +rs62121640 19 55286781 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286781 55286781 Chr19(GRCh37):g.55286781G>A 535 535 NM_014219.2:c.535G>A p.Gly179Arg p.Gly179Arg 4 604937 -130 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs62121640 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000056 0.000097 0.000063 0.000230 0.000000 0.000279 0.000009 0.000000 0.000000 0.000279 14 2 2 2 0 7 1 0 0 248810 20682 31946 8690 18470 25132 114156 24022 5712 0.000032 0.000000 0.000000 0.000230 0.000000 0.000239 0.000000 0.000000 0.000000 4 0 0 1 0 3 0 0 0 6 2 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8302 4262 12564 2 0 2 0.000240848 0 0.00015916 0.000240848 0 0.00015916 139 COSM4287248 Large intestine 0.000836 2391 transition G A G>A 0.000 0.044 G Gly GGA 0.246 R Arg AGA 0.205 179 11 7 Horse -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.55 III.26 good 4.582E-1 0.1646 255 PASS . . . . . . 0.0004 . . . 0.002 . . KIR2DL1:NM_014218:exon4:c.G535A:p.G179R . . 0.39520958 . . @ 198 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.040 . . 501.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.8274 -1.048 -0.827 c . . . . . 9.131e-05 . . . 0 0.0001 9.273e-05 0 0 7.961e-05 0 0.0005 0 0.0001 9.549e-05 0 0 6.107e-05 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.199 . . exonic exonic exonic . . 0.125 0.0004 . . . 0.32 0.36 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.151 . . 0.198 . . . 0.713 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.901 . . 0 0 0 0 0 0 . 0.473 . . 0.383 . . . . . . 0 0.105 . . . . . 0.129 . 0.553 . HET 0.31 . . . . . . . . . . . . . IV.13 . . 1.I -0.2 . 0.310000 . . . . 0.000159 . 0.020 . . . 7.364e-05 5.849e-05 6.412e-05 0.0002 0 0 9.87e-06 0 0.0003 0.0001 3.765e-05 0 0 0 0 0 0 . . 0.133 . 0.008 0.008000 . . 0.310000 . . 1.0E-255 0.003 0.159 . 0.043 0.004 . 0.188 . 0.055 0.008 0.150 0.0002 rs62121640 rs62121640 rs62121640 rs201609645 1 1538 10 1/0 0,183,218 +rs62121640 19 55286781 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286781 55286781 Chr19(GRCh37):g.55286781G>A *22753 *22753 NM_001291695.1:c.*22753G>A p.? p.? 8 604953 22897 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62121640 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000056 0.000097 0.000063 0.000230 0.000000 0.000279 0.000009 0.000000 0.000000 0.000279 14 2 2 2 0 7 1 0 0 248810 20682 31946 8690 18470 25132 114156 24022 5712 0.000032 0.000000 0.000000 0.000230 0.000000 0.000239 0.000000 0.000000 0.000000 4 0 0 1 0 3 0 0 0 6 2 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8302 4262 12564 2 0 2 0.000240848 0 0.00015916 0.000240848 0 0.00015916 139 COSM4287248 Large intestine 0.000836 2391 transition G A G>A 0.000 0.044 255 PASS . . . . . . 0.0004 . . . 0.002 . . KIR2DL1:NM_014218:exon4:c.G535A:p.G179R . . 0.39520958 . . @ 198 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.040 . . 501.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.8274 -1.048 -0.827 c . . . . . 9.131e-05 . . . 0 0.0001 9.273e-05 0 0 7.961e-05 0 0.0005 0 0.0001 9.549e-05 0 0 6.107e-05 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.199 . . exonic exonic exonic . . 0.125 0.0004 . . . 0.32 0.36 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.151 . . 0.198 . . . 0.713 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.901 . . 0 0 0 0 0 0 . 0.473 . . 0.383 . . . . . . 0 0.105 . . . . . 0.129 . 0.553 . HET 0.31 . . . . . . . . . . . . . IV.13 . . 1.I -0.2 . 0.310000 . . . . 0.000159 . 0.020 . . . 7.364e-05 5.849e-05 6.412e-05 0.0002 0 0 9.87e-06 0 0.0003 0.0001 3.765e-05 0 0 0 0 0 0 . . 0.133 . 0.008 0.008000 . . 0.310000 . . 1.0E-255 0.003 0.159 . 0.043 0.004 . 0.188 . 0.055 0.008 0.150 0.0002 rs62121640 rs62121640 rs62121640 rs201609645 1 1538 10 1/0 0,183,218 +rs147072532 19 55286796 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286796 55286796 Chr19(GRCh37):g.55286796G>A 550 550 NM_014218.2:c.550G>A p.Asp184Asn p.Asp184Asn 4 604936 -115 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs147072532 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223752 13550 31268 8466 16926 25310 102458 20890 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 77 Exomes COSM5486914|COSM5486914 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition G A G>A 0.000 -0.440 D Asp GAC 0.539 N Asn AAC 0.536 184 7 3 Opossum 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 240.29 0.00 Tolerated 0.18 III.33 good 2.213E-2 0.00265 229 PASS . . . . . . 0.0004 0.0029 . . . . . KIR2DL1:NM_014218:exon4:c.G550A:p.D184N . . 0.23895583 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.267 . . 498.0 . . . . . . . . . . -1.1698 -1.330 -1.170 c . . . . . 8.137e-06 . . . 0 1.221e-05 0 0 0 0 0 7.306e-05 0 1.032e-05 0 0 0 0 0 7.35e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.078 0.0004 . . . 0.23 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.129 . . 0.281 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.184 . . 0.158 . . . . . . 0 0.276 . . . . . 0.091 . 0.250 . HET 0.15 . . . . . . . . . . . . . 4.0352 . . 1.I -1.67 . 0.130000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.445 -0.445000 . . 0.130000 . . 1.0E-229 0.000 0.063 . 0.062 0.014 . 0.041 . 0.065 -0.445 -1.036 . . . rs147072532 rs147072532 1 1538 10 1/0 0,170,244 +rs147072532 19 55286796 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286796 55286796 Chr19(GRCh37):g.55286796G>A 550 550 NM_014219.2:c.550G>A p.Asp184Asn p.Asp184Asn 4 604937 -115 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs147072532 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223752 13550 31268 8466 16926 25310 102458 20890 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 77 Exomes COSM5486914|COSM5486914 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition G A G>A 0.000 -0.440 D Asp GAC 0.539 N Asn AAC 0.536 184 11 6 Opossum 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 270.03 0.00 Tolerated 0.47 II.83 good 9.576E-1 0.5667 229 PASS . . . . . . 0.0004 0.0029 . . . . . KIR2DL1:NM_014218:exon4:c.G550A:p.D184N . . 0.23895583 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.267 . . 498.0 . . . . . . . . . . -1.1698 -1.330 -1.170 c . . . . . 8.137e-06 . . . 0 1.221e-05 0 0 0 0 0 7.306e-05 0 1.032e-05 0 0 0 0 0 7.35e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.078 0.0004 . . . 0.23 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.129 . . 0.281 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.184 . . 0.158 . . . . . . 0 0.276 . . . . . 0.091 . 0.250 . HET 0.15 . . . . . . . . . . . . . 4.0352 . . 1.I -1.67 . 0.130000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.445 -0.445000 . . 0.130000 . . 1.0E-229 0.000 0.063 . 0.062 0.014 . 0.041 . 0.065 -0.445 -1.036 . . . rs147072532 rs147072532 1 1538 10 1/0 0,170,244 +rs147072532 19 55286796 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286796 55286796 Chr19(GRCh37):g.55286796G>A *22768 *22768 NM_001291695.1:c.*22768G>A p.? p.? 8 604953 22912 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs147072532 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223752 13550 31268 8466 16926 25310 102458 20890 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 77 Exomes COSM5486914|COSM5486914 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition G A G>A 0.000 -0.440 229 PASS . . . . . . 0.0004 0.0029 . . . . . KIR2DL1:NM_014218:exon4:c.G550A:p.D184N . . 0.23895583 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.267 . . 498.0 . . . . . . . . . . -1.1698 -1.330 -1.170 c . . . . . 8.137e-06 . . . 0 1.221e-05 0 0 0 0 0 7.306e-05 0 1.032e-05 0 0 0 0 0 7.35e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.078 0.0004 . . . 0.23 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.129 . . 0.281 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.184 . . 0.158 . . . . . . 0 0.276 . . . . . 0.091 . 0.250 . HET 0.15 . . . . . . . . . . . . . 4.0352 . . 1.I -1.67 . 0.130000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.445 -0.445000 . . 0.130000 . . 1.0E-229 0.000 0.063 . 0.062 0.014 . 0.041 . 0.065 -0.445 -1.036 . . . rs147072532 rs147072532 1 1538 10 1/0 0,170,244 +rs2916003 19 55286809 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286809 55286809 Chr19(GRCh37):g.55286809G>A 563 563 NM_014218.2:c.563G>A p.Gly188Asp p.Gly188Asp 4 604936 -102 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs2916003 yes no Frequency/1000G 2 0.000000 0 0.004992 0.018200 0.000000 0.000000 0.000000 0.001400 0.000051 0.000572 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000572 13 12 1 0 0 0 0 0 0 254086 20986 32218 8792 18542 26094 117328 24330 5796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 12 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4132537|COSM4132537 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition G A G>A 0.008 0.932 G Gly GGC 0.342 D Asp GAC 0.539 188 7 3 Cow -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 138.80 61.50 Tolerated 0.14 3.I bad 8.284E-6 0.1077 255 PASS . . . . . 0.018 0.005 0.0014 . . . . . KIR2DL1:NM_014218:exon4:c.G563A:p.G188D . . 0.40232107 . . @ 208 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.207 . @ . . . . . 1 0.347 . . 517.0 . . . . . . . . . . -0.6261 -0.854 -0.626 c . . . . . 2.830e-04 . . . 0.0012 0.0001 9.154e-05 0 0 0 0 0 0.0009 8.209e-05 9.436e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.195 0.0050 . . . 0.22 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.273 . . 0.215 . . . 0.800 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.866 . . 0 0 0 0 0 0 . 0.404 . . 0.417 . . . . . . 0 0.393 . . . . . 0.165 . 0.472 . HET 0.03 . 0.011 0.007 . . . . . . . . . . V.29 8.35E-4 . 1.I 1.I . 0.010000 . . . . . . 0.022 . . . 0.0008 5.279e-05 3.18e-05 0 0 0 0 0 0 0.0001 3.737e-05 0 0 0 0 0 0 . . 0.133 . 0.924 0.924000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.167 0.380 . 0.059 . 0.276 0.924 0.150 0.011 rs2916003 rs2916003 rs2916003 rs202030177 1 1538 10 1/0 0,183,221 +rs2916003 19 55286809 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286809 55286809 Chr19(GRCh37):g.55286809G>A 563 563 NM_014219.2:c.563G>A p.Gly188Asp p.Gly188Asp 4 604937 -102 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs2916003 yes no Frequency/1000G 2 0.000000 0 0.004992 0.018200 0.000000 0.000000 0.000000 0.001400 0.000051 0.000572 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000572 13 12 1 0 0 0 0 0 0 254086 20986 32218 8792 18542 26094 117328 24330 5796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 12 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4132537|COSM4132537 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition G A G>A 0.008 0.932 G Gly GGC 0.342 D Asp GAC 0.539 188 11 5 Horse -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 229.59 61.50 Tolerated 0.25 II.83 bad 8.71E-6 0.1196 255 PASS . . . . . 0.018 0.005 0.0014 . . . . . KIR2DL1:NM_014218:exon4:c.G563A:p.G188D . . 0.40232107 . . @ 208 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.207 . @ . . . . . 1 0.347 . . 517.0 . . . . . . . . . . -0.6261 -0.854 -0.626 c . . . . . 2.830e-04 . . . 0.0012 0.0001 9.154e-05 0 0 0 0 0 0.0009 8.209e-05 9.436e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.195 0.0050 . . . 0.22 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.273 . . 0.215 . . . 0.800 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.866 . . 0 0 0 0 0 0 . 0.404 . . 0.417 . . . . . . 0 0.393 . . . . . 0.165 . 0.472 . HET 0.03 . 0.011 0.007 . . . . . . . . . . V.29 8.35E-4 . 1.I 1.I . 0.010000 . . . . . . 0.022 . . . 0.0008 5.279e-05 3.18e-05 0 0 0 0 0 0 0.0001 3.737e-05 0 0 0 0 0 0 . . 0.133 . 0.924 0.924000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.167 0.380 . 0.059 . 0.276 0.924 0.150 0.011 rs2916003 rs2916003 rs2916003 rs202030177 1 1538 10 1/0 0,183,221 +rs2916003 19 55286809 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286809 55286809 Chr19(GRCh37):g.55286809G>A *22781 *22781 NM_001291695.1:c.*22781G>A p.? p.? 8 604953 22925 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2916003 yes no Frequency/1000G 2 0.000000 0 0.004992 0.018200 0.000000 0.000000 0.000000 0.001400 0.000051 0.000572 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000572 13 12 1 0 0 0 0 0 0 254086 20986 32218 8792 18542 26094 117328 24330 5796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 12 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4132537|COSM4132537 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition G A G>A 0.008 0.932 255 PASS . . . . . 0.018 0.005 0.0014 . . . . . KIR2DL1:NM_014218:exon4:c.G563A:p.G188D . . 0.40232107 . . @ 208 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.207 . @ . . . . . 1 0.347 . . 517.0 . . . . . . . . . . -0.6261 -0.854 -0.626 c . . . . . 2.830e-04 . . . 0.0012 0.0001 9.154e-05 0 0 0 0 0 0.0009 8.209e-05 9.436e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.195 0.0050 . . . 0.22 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.273 . . 0.215 . . . 0.800 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.866 . . 0 0 0 0 0 0 . 0.404 . . 0.417 . . . . . . 0 0.393 . . . . . 0.165 . 0.472 . HET 0.03 . 0.011 0.007 . . . . . . . . . . V.29 8.35E-4 . 1.I 1.I . 0.010000 . . . . . . 0.022 . . . 0.0008 5.279e-05 3.18e-05 0 0 0 0 0 0 0.0001 3.737e-05 0 0 0 0 0 0 . . 0.133 . 0.924 0.924000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.167 0.380 . 0.059 . 0.276 0.924 0.150 0.011 rs2916003 rs2916003 rs2916003 rs202030177 1 1538 10 1/0 0,183,221 +rs28465191 19 55286822 C T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286822 55286822 Chr19(GRCh37):g.55286822C>T 576 576 NM_014218.2:c.576C>T p.His192= p.His192His 4 604936 -89 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs28465191 yes no Frequency/1000G 2 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000062 0.000588 0.000011 0.000000 0.000000 0.000588 16 0 0 0 1 14 1 0 0 208090 12532 30120 8112 16178 23792 93876 18928 4552 0.250000 0.000000 0.000000 0.000000 0.000000 0.285714 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 8 0 0 0 1 6 1 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes COSM5486915 Large intestine 0.000418 2391 transition C T C>T 0.000 -0.602 H His CAC 0.587 H His CAT 0.413 192 217 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C576T:p.H192H . . 0.20289855 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 483.0 . . . . . . . . . . -0.4218 . . . . . . . . 4.041e-05 . . . 0 5.932e-05 0 0.0002 0 2.537e-05 0 0.0002 0 4.031e-05 0 0.0001 0 0 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1482 . . . 0.24 0.3 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.043 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000063630.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.689e-05 0 0 6.181e-05 0 1.065e-05 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . 0.043 rs28465191 rs28465191 rs28465191 rs28465191 1 1538 10 1/0 0,168,255 +rs28465191 19 55286822 C T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286822 55286822 Chr19(GRCh37):g.55286822C>T 576 576 NM_014219.2:c.576C>T p.His192= p.His192His 4 604937 -89 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs28465191 yes no Frequency/1000G 2 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000062 0.000588 0.000011 0.000000 0.000000 0.000588 16 0 0 0 1 14 1 0 0 208090 12532 30120 8112 16178 23792 93876 18928 4552 0.250000 0.000000 0.000000 0.000000 0.000000 0.285714 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 8 0 0 0 1 6 1 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes COSM5486915 Large intestine 0.000418 2391 transition C T C>T 0.000 -0.602 H His CAC 0.587 H His CAT 0.413 192 217 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C576T:p.H192H . . 0.20289855 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 483.0 . . . . . . . . . . -0.4218 . . . . . . . . 4.041e-05 . . . 0 5.932e-05 0 0.0002 0 2.537e-05 0 0.0002 0 4.031e-05 0 0.0001 0 0 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1482 . . . 0.24 0.3 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.043 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000063630.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.689e-05 0 0 6.181e-05 0 1.065e-05 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . 0.043 rs28465191 rs28465191 rs28465191 rs28465191 1 1538 10 1/0 0,168,255 +rs28465191 19 55286822 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286822 55286822 Chr19(GRCh37):g.55286822C>T *22794 *22794 NM_001291695.1:c.*22794C>T p.? p.? 8 604953 22938 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs28465191 yes no Frequency/1000G 2 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000062 0.000588 0.000011 0.000000 0.000000 0.000588 16 0 0 0 1 14 1 0 0 208090 12532 30120 8112 16178 23792 93876 18928 4552 0.250000 0.000000 0.000000 0.000000 0.000000 0.285714 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 8 0 0 0 1 6 1 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes COSM5486915 Large intestine 0.000418 2391 transition C T C>T 0.000 -0.602 217 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C576T:p.H192H . . 0.20289855 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 483.0 . . . . . . . . . . -0.4218 . . . . . . . . 4.041e-05 . . . 0 5.932e-05 0 0.0002 0 2.537e-05 0 0.0002 0 4.031e-05 0 0.0001 0 0 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1482 . . . 0.24 0.3 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.043 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000063630.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.689e-05 0 0 6.181e-05 0 1.065e-05 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . 0.043 rs28465191 rs28465191 rs28465191 rs28465191 1 1538 10 1/0 0,168,255 +rs371438548 19 55286836 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286836 55286836 Chr19(GRCh37):g.55286836G>C 590 590 NM_014218.2:c.590G>C p.Arg197Thr p.Arg197Thr 4 604936 -75 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 7.88209 0 Immunoglobulin Immunoglobulin subtype rs371438548 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000059 1 0 0 0 1 0 0 0 0 230020 14122 31456 8690 16966 26954 105556 21270 5006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transversion G C G>C 0.161 0.932 R Arg AGA 0.205 T Thr ACA 0.280 197 7 6 Platypus -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 42.81 39.20 Deleterious 0.02 3.I bad 6.816E-4 0.001118 193 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G590C:p.R197T . . 0.1417004 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.203 . @ . . . . . 1 0.118 . . 494.0 . . . . . . . . . . -0.3799 -0.659 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.304 . . 0.130 . . . 0.752 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.776 . . 0 0 0 0 0 0 . 0.532 . . 0.519 . . . . . . 0 0.682 . . . . . 0.165 . 0.590 . LowAF 0.02 . . . . . . . . . . . . . V.29 . . 1.I 1.I . 0.000000 . . . . . . 0.049 . . . 0 4.347e-06 0 0 5.894e-05 0 0 0 0 . . . . . . . . . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-193 0.000 0.063 . 0.104 0.159 . 0.133 . 0.071 0.924 -0.180 . . . rs371438548 rs371438548 1 1538 10 1/0 0,161,255 +rs371438548 19 55286836 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286836 55286836 Chr19(GRCh37):g.55286836G>C 590 590 NM_014219.2:c.590G>C p.Arg197Thr p.Arg197Thr 4 604937 -75 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.11719 0 rs371438548 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000059 1 0 0 0 1 0 0 0 0 230020 14122 31456 8690 16966 26954 105556 21270 5006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transversion G C G>C 0.161 0.932 R Arg AGA 0.205 T Thr ACA 0.280 197 11 8 Horse -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 244.41 0.00 Tolerated 0.1 II.83 bad 2.129E-3 0.01568 193 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G590C:p.R197T . . 0.1417004 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.203 . @ . . . . . 1 0.118 . . 494.0 . . . . . . . . . . -0.3799 -0.659 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.304 . . 0.130 . . . 0.752 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.776 . . 0 0 0 0 0 0 . 0.532 . . 0.519 . . . . . . 0 0.682 . . . . . 0.165 . 0.590 . LowAF 0.02 . . . . . . . . . . . . . V.29 . . 1.I 1.I . 0.000000 . . . . . . 0.049 . . . 0 4.347e-06 0 0 5.894e-05 0 0 0 0 . . . . . . . . . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-193 0.000 0.063 . 0.104 0.159 . 0.133 . 0.071 0.924 -0.180 . . . rs371438548 rs371438548 1 1538 10 1/0 0,161,255 +rs371438548 19 55286836 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286836 55286836 Chr19(GRCh37):g.55286836G>C *22808 *22808 NM_001291695.1:c.*22808G>C p.? p.? 8 604953 22952 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs371438548 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000059 1 0 0 0 1 0 0 0 0 230020 14122 31456 8690 16966 26954 105556 21270 5006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transversion G C G>C 0.161 0.932 193 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G590C:p.R197T . . 0.1417004 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.203 . @ . . . . . 1 0.118 . . 494.0 . . . . . . . . . . -0.3799 -0.659 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.304 . . 0.130 . . . 0.752 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.776 . . 0 0 0 0 0 0 . 0.532 . . 0.519 . . . . . . 0 0.682 . . . . . 0.165 . 0.590 . LowAF 0.02 . . . . . . . . . . . . . V.29 . . 1.I 1.I . 0.000000 . . . . . . 0.049 . . . 0 4.347e-06 0 0 5.894e-05 0 0 0 0 . . . . . . . . . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-193 0.000 0.063 . 0.104 0.159 . 0.133 . 0.071 0.924 -0.180 . . . rs371438548 rs371438548 1 1538 10 1/0 0,161,255 +rs796519937 19 55286850 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286850 55286850 Chr19(GRCh37):g.55286850T>C 604 604 NM_014218.2:c.604T>C p.Phe202Leu p.Phe202Leu 4 604936 -61 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 VIII.25 0 Immunoglobulin subtype rs796519937 no no 0 0.000000 0 transition T C T>C 0.024 -0.117 F Phe TTC 0.546 L Leu CTC 0.197 202 7 5 Cow 1 0 0 0 0 5.II 4.IX 132 111 22 C0 259.64 IV.86 Tolerated 0.14 III.33 good 7.526E-2 0.08075 195 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T604C:p.F202L . . 0.14505495 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.160 . . 455.0 . . . . . . . . . . -0.9802 -1.146 -0.980 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.007 . . 0.475 . . . 0.235 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.707 . . 0 0 0 0 0 0 . 0.352 . . 0.253 . . . . . . 0 0.784 . . . . . 0.057 . 0.546 . LowAF 0.04 . . . . . . . . . . . . . 3.0354 . . 1.I -0.17 . 0.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.101 -0.101000 . . 0.000000 . . 9.999999999999999E-196 0.000 0.063 . 0.074 0.012 . 0.078 . 0.074 -0.101 -0.215 . . . . . 1 1538 10 1/0 0,165,255 +rs796519937 19 55286850 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286850 55286850 Chr19(GRCh37):g.55286850T>C 604 604 NM_014219.2:c.604T>C p.Phe202Leu p.Phe202Leu 4 604937 -61 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 IX.76 0 rs796519937 no no 0 0.000000 0 transition T C T>C 0.024 -0.117 F Phe TTC 0.546 L Leu CTC 0.197 202 11 7 Horse 1 0 0 0 0 5.II 4.IX 132 111 22 C0 268.49 0.00 Tolerated 0.7 II.83 good 6.914E-1 0.4345 195 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T604C:p.F202L . . 0.14505495 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.160 . . 455.0 . . . . . . . . . . -0.9802 -1.146 -0.980 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.007 . . 0.475 . . . 0.235 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.707 . . 0 0 0 0 0 0 . 0.352 . . 0.253 . . . . . . 0 0.784 . . . . . 0.057 . 0.546 . LowAF 0.04 . . . . . . . . . . . . . 3.0354 . . 1.I -0.17 . 0.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.101 -0.101000 . . 0.000000 . . 9.999999999999999E-196 0.000 0.063 . 0.074 0.012 . 0.078 . 0.074 -0.101 -0.215 . . . . . 1 1538 10 1/0 0,165,255 +rs796519937 19 55286850 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286850 55286850 Chr19(GRCh37):g.55286850T>C *22822 *22822 NM_001291695.1:c.*22822T>C p.? p.? 8 604953 22966 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796519937 no no 0 0.000000 0 transition T C T>C 0.024 -0.117 195 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T604C:p.F202L . . 0.14505495 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.160 . . 455.0 . . . . . . . . . . -0.9802 -1.146 -0.980 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.007 . . 0.475 . . . 0.235 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.707 . . 0 0 0 0 0 0 . 0.352 . . 0.253 . . . . . . 0 0.784 . . . . . 0.057 . 0.546 . LowAF 0.04 . . . . . . . . . . . . . 3.0354 . . 1.I -0.17 . 0.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.101 -0.101000 . . 0.000000 . . 9.999999999999999E-196 0.000 0.063 . 0.074 0.012 . 0.078 . 0.074 -0.101 -0.215 . . . . . 1 1538 10 1/0 0,165,255 +rs666590 19 55286854 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286854 55286854 Chr19(GRCh37):g.55286854A>G 608 608 NM_014218.2:c.608A>G p.His203Arg p.His203Arg 4 604936 -57 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.32477 0 Immunoglobulin subtype rs666590 yes no Frequency/1000G 2 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000136 0.001073 0.000124 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.001073 35 23 4 0 0 0 8 0 0 257850 21442 32222 8996 18532 27194 118876 24682 5906 0.000023 0.000187 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 3 2 0 0 0 0 1 0 0 29 19 4 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM359366|COSM359366|COSM359366|COSM359366|COSM359366 Thyroid|Lung|Large intestine|Central nervous system|Breast 0.001339|0.000419|0.000836|0.001247|0.000408 747|2388|2391|2405|2453 transition A G A>G 0.000 -1.489 H His CAT 0.413 R Arg CGT 0.082 203 7 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 127.28 0.00 Tolerated 0.69 3.I good 5.513E-1 0.3356 255 PASS . . . . . 0.003 0.0008 . . . . . . KIR2DL1:NM_014218:exon4:c.A608G:p.H203R . . 0.6712018 . . @ 296 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.023 . . 441.0 . . . . . . . . . . -1.7815 -1.911 -1.782 c . . . . . 1.288e-04 . . . 0.0004 6.925e-05 8.916e-05 0 0 2.47e-05 0 0 0.0005 5.886e-05 0 0 0 3.808e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.065 0.0008 . . . 0.13 0.18 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.415 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.183 . 0.277 . HET 1 . 0.054 0.051 . . . . . . . . . . V.66 2.77E-4 . 1.I -2.21 . 1.000000 . . . . . . 0.002 . . . 0.0007 8.244e-05 0.0001 0 0 0 4.736e-05 0 0 0.0018 0.0006 0 0 0 0 0.0002 0 . . 0.133 . -1.438 -1.438000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.008 . 0.001 -1.438 -1.387 0.054 rs666590 rs666590 rs666590 rs199779620 1 1538 10 1/0 0,206,209 +rs666590 (chr19:55286854 A/G) 19 55286854 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs666590 19 55286854 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286854 55286854 Chr19(GRCh37):g.55286854A>G *22826 *22826 NM_001291695.1:c.*22826A>G p.? p.? 8 604953 22970 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs666590 yes no Frequency/1000G 2 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000136 0.001073 0.000124 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.001073 35 23 4 0 0 0 8 0 0 257850 21442 32222 8996 18532 27194 118876 24682 5906 0.000023 0.000187 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 3 2 0 0 0 0 1 0 0 29 19 4 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM359366|COSM359366|COSM359366|COSM359366|COSM359366 Thyroid|Lung|Large intestine|Central nervous system|Breast 0.001339|0.000419|0.000836|0.001247|0.000408 747|2388|2391|2405|2453 transition A G A>G 0.000 -1.489 255 PASS . . . . . 0.003 0.0008 . . . . . . KIR2DL1:NM_014218:exon4:c.A608G:p.H203R . . 0.6712018 . . @ 296 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.023 . . 441.0 . . . . . . . . . . -1.7815 -1.911 -1.782 c . . . . . 1.288e-04 . . . 0.0004 6.925e-05 8.916e-05 0 0 2.47e-05 0 0 0.0005 5.886e-05 0 0 0 3.808e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.065 0.0008 . . . 0.13 0.18 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.415 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.183 . 0.277 . HET 1 . 0.054 0.051 . . . . . . . . . . V.66 2.77E-4 . 1.I -2.21 . 1.000000 . . . . . . 0.002 . . . 0.0007 8.244e-05 0.0001 0 0 0 4.736e-05 0 0 0.0018 0.0006 0 0 0 0 0.0002 0 . . 0.133 . -1.438 -1.438000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.008 . 0.001 -1.438 -1.387 0.054 rs666590 rs666590 rs666590 rs199779620 1 1538 10 1/0 0,206,209 +. 19 55286861 T A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286861 55286861 Chr19(GRCh37):g.55286861T>A 615 615 NM_014218.2:c.615T>A p.Ser205= p.Ser205Ser 4 604936 -50 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.06078 0 Immunoglobulin subtype transversion T A T>A 0.000 -1.247 S Ser TCT 0.185 S Ser TCA 0.148 205 183 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T615A:p.S205S . . 0.11990408 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 417.0 . . . . . . . . . . -0.6480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,166,255 +. 19 55286861 T A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286861 55286861 Chr19(GRCh37):g.55286861T>A 615 615 NM_014219.2:c.615T>A p.Ser205= p.Ser205Ser 4 604937 -50 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.29588 0 transversion T A T>A 0.000 -1.247 S Ser TCT 0.185 S Ser TCA 0.148 205 183 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T615A:p.S205S . . 0.11990408 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 417.0 . . . . . . . . . . -0.6480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,166,255 +. 19 55286861 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286861 55286861 Chr19(GRCh37):g.55286861T>A *22833 *22833 NM_001291695.1:c.*22833T>A p.? p.? 8 604953 22977 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion T A T>A 0.000 -1.247 183 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T615A:p.S205S . . 0.11990408 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 417.0 . . . . . . . . . . -0.6480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,166,255 +rs75232650 19 55290108 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55290108 55290108 Chr19(GRCh37):g.55290108A>G 709 709 NM_014218.2:c.709A>G p.Lys237Glu p.Lys237Glu 5 604936 -7 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995859 9.41521 -2.34287e-05 rs75232650 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000097 0.000000 0.000063 0.000000 0.000813 0.000120 0.000027 0.000042 0.000000 0.000813 24 0 2 0 15 3 3 1 0 246496 20204 31754 8634 18450 25006 112956 23830 5662 0.000049 0.000000 0.000063 0.000000 0.000325 0.000080 0.000018 0.000000 0.000000 6 0 1 0 3 1 1 0 0 12 0 0 0 9 1 1 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132538|COSM4132538 Thyroid|Large intestine 0.002677|0.000418 747|2391 transition A G A>G 0.000 -0.521 K Lys AAA 0.425 E Glu GAA 0.417 237 7 4 Mouse 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 260.21 16.18 Tolerated 0.37 III.33 good 1.352E-1 0.354 255 PASS . . . . . . 0.0002 . 0.001 . . . . KIR2DL1:NM_014218:exon5:c.A709G:p.K237E . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.086 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K237E|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.5) . . . . . . . -1.1641 -1.329 -1.164 c . . . . . 1.031e-04 . . . 0 8.787e-05 0.0002 0.0002 0 5.399e-05 0 0.0001 0 0.0001 0.0002 0.0006 0 4.121e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 0.0002 . . . 0.31 0.19 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.382 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.391 . . 0 0 0 0 0 0 . 0.067 . . 0.139 . . . . . . 0 0.262 . . . . . . . 0.232 . HET 0.09 . 0.076 0.087 . . . . . . . . . . . . . 0.569 -1.14 . 0.070000 . . . . . . 0.010 . . . 0 9.533e-05 6.45e-05 0 0.0007 4.845e-05 2.992e-05 0 0.0001 0 0.0001 0 0 0.0019 0 0 0 . . 0.133 . -0.542 -0.542000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.060 . 0.094 . 0.071 -0.542 0.167 0.076 . . rs75232650 rs201050156 1 1538 10 1/0 0,252,255 +rs75232650 19 55290108 A G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55290108 55290108 Chr19(GRCh37):g.55290108A>G 709 709 NM_014219.2:c.709A>G p.Lys237Glu p.Lys237Glu 5 604937 -7 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995859 9.02293 -2.34287e-05 rs75232650 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000097 0.000000 0.000063 0.000000 0.000813 0.000120 0.000027 0.000042 0.000000 0.000813 24 0 2 0 15 3 3 1 0 246496 20204 31754 8634 18450 25006 112956 23830 5662 0.000049 0.000000 0.000063 0.000000 0.000325 0.000080 0.000018 0.000000 0.000000 6 0 1 0 3 1 1 0 0 12 0 0 0 9 1 1 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132538|COSM4132538 Thyroid|Large intestine 0.002677|0.000418 747|2391 transition A G A>G 0.000 -0.521 K Lys AAA 0.425 E Glu GAA 0.417 237 11 5 Mouse 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 0.26 II.99 good 6.861E-1 0.05307 255 PASS . . . . . . 0.0002 . 0.001 . . . . KIR2DL1:NM_014218:exon5:c.A709G:p.K237E . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.086 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K237E|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.5) . . . . . . . -1.1641 -1.329 -1.164 c . . . . . 1.031e-04 . . . 0 8.787e-05 0.0002 0.0002 0 5.399e-05 0 0.0001 0 0.0001 0.0002 0.0006 0 4.121e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 0.0002 . . . 0.31 0.19 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.382 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.391 . . 0 0 0 0 0 0 . 0.067 . . 0.139 . . . . . . 0 0.262 . . . . . . . 0.232 . HET 0.09 . 0.076 0.087 . . . . . . . . . . . . . 0.569 -1.14 . 0.070000 . . . . . . 0.010 . . . 0 9.533e-05 6.45e-05 0 0.0007 4.845e-05 2.992e-05 0 0.0001 0 0.0001 0 0 0.0019 0 0 0 . . 0.133 . -0.542 -0.542000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.060 . 0.094 . 0.071 -0.542 0.167 0.076 . . rs75232650 rs201050156 1 1538 10 1/0 0,252,255 +rs75232650 19 55290108 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290108 55290108 Chr19(GRCh37):g.55290108A>G *26080 *26080 NM_001291695.1:c.*26080A>G p.? p.? 8 604953 26224 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs75232650 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000097 0.000000 0.000063 0.000000 0.000813 0.000120 0.000027 0.000042 0.000000 0.000813 24 0 2 0 15 3 3 1 0 246496 20204 31754 8634 18450 25006 112956 23830 5662 0.000049 0.000000 0.000063 0.000000 0.000325 0.000080 0.000018 0.000000 0.000000 6 0 1 0 3 1 1 0 0 12 0 0 0 9 1 1 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132538|COSM4132538 Thyroid|Large intestine 0.002677|0.000418 747|2391 transition A G A>G 0.000 -0.521 255 PASS . . . . . . 0.0002 . 0.001 . . . . KIR2DL1:NM_014218:exon5:c.A709G:p.K237E . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.086 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K237E|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.5) . . . . . . . -1.1641 -1.329 -1.164 c . . . . . 1.031e-04 . . . 0 8.787e-05 0.0002 0.0002 0 5.399e-05 0 0.0001 0 0.0001 0.0002 0.0006 0 4.121e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 0.0002 . . . 0.31 0.19 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.382 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.391 . . 0 0 0 0 0 0 . 0.067 . . 0.139 . . . . . . 0 0.262 . . . . . . . 0.232 . HET 0.09 . 0.076 0.087 . . . . . . . . . . . . . 0.569 -1.14 . 0.070000 . . . . . . 0.010 . . . 0 9.533e-05 6.45e-05 0 0.0007 4.845e-05 2.992e-05 0 0.0001 0 0.0001 0 0 0.0019 0 0 0 . . 0.133 . -0.542 -0.542000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.060 . 0.094 . 0.071 -0.542 0.167 0.076 . . rs75232650 rs201050156 1 1538 10 1/0 0,252,255 +rs2295806 19 55290150 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55290150 55290150 Chr19(GRCh37):g.55290150C>A 715+36 715+36 NM_014218.2:c.715+36C>A p.? p.? 5 5 604936 36 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995929 8.61943 0 rs2295806 yes no Frequency 1 0.000000 0 0.000081 0.000000 0.000000 0.000000 0.000272 0.000481 0.000027 0.000000 0.000000 0.000481 20 0 0 0 5 12 3 0 0 245930 20172 31650 8588 18416 24932 112750 23772 5650 0.000016 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 16 0 0 0 5 8 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.008 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.45614034 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6602 . . . . . . . . 2.233e-04 . . . 0 0.0002 0 0.0002 0 0.0001 0 0.0010 0 0.0002 0 0.0004 0 8.231e-05 0 0.0010 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.29 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.646e-05 0 0 0.0002 0 2.999e-05 0 0.0005 0 3.821e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295806 rs2295806 rs2295806 rs199829038 1 1538 10 1/0 0,248,255 +rs2295806 19 55290150 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55290150 55290150 Chr19(GRCh37):g.55290150C>A 715+36 715+36 NM_014219.2:c.715+36C>A p.? p.? 5 5 604937 36 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995929 8.0268 0 rs2295806 yes no Frequency 1 0.000000 0 0.000081 0.000000 0.000000 0.000000 0.000272 0.000481 0.000027 0.000000 0.000000 0.000481 20 0 0 0 5 12 3 0 0 245930 20172 31650 8588 18416 24932 112750 23772 5650 0.000016 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 16 0 0 0 5 8 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.008 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.45614034 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6602 . . . . . . . . 2.233e-04 . . . 0 0.0002 0 0.0002 0 0.0001 0 0.0010 0 0.0002 0 0.0004 0 8.231e-05 0 0.0010 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.29 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.646e-05 0 0 0.0002 0 2.999e-05 0 0.0005 0 3.821e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295806 rs2295806 rs2295806 rs199829038 1 1538 10 1/0 0,248,255 +rs2295806 19 55290150 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290150 55290150 Chr19(GRCh37):g.55290150C>A *26122 *26122 NM_001291695.1:c.*26122C>A p.? p.? 8 604953 26266 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2295806 yes no Frequency 1 0.000000 0 0.000081 0.000000 0.000000 0.000000 0.000272 0.000481 0.000027 0.000000 0.000000 0.000481 20 0 0 0 5 12 3 0 0 245930 20172 31650 8588 18416 24932 112750 23772 5650 0.000016 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 16 0 0 0 5 8 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.008 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.45614034 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6602 . . . . . . . . 2.233e-04 . . . 0 0.0002 0 0.0002 0 0.0001 0 0.0010 0 0.0002 0 0.0004 0 8.231e-05 0 0.0010 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.29 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.646e-05 0 0 0.0002 0 2.999e-05 0 0.0005 0 3.821e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295806 rs2295806 rs2295806 rs199829038 1 1538 10 1/0 0,248,255 +rs2295807 19 55290164 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55290164 55290164 Chr19(GRCh37):g.55290164G>A 715+50 715+50 NM_014218.2:c.715+50G>A p.? p.? 5 5 604936 50 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995929 8.64099 0 rs2295807 yes no Frequency 1 0.000000 0 0.000147 0.000050 0.000000 0.002000 0.000109 0.000000 0.000133 0.000000 0.000177 0.002000 36 1 0 17 2 0 15 0 1 245332 20136 31506 8502 18384 24874 112556 23730 5644 0.000065 0.000000 0.000000 0.000706 0.000109 0.000000 0.000071 0.000000 0.000000 8 0 0 3 1 0 4 0 0 20 1 0 11 0 0 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.511811 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.5569 . . . . . . . . 1.975e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0002 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.33 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.551e-05 0.0001 0 0.0019 0.0001 0 0.0001 0 0 0 0.0003 0 0.0041 0 0 0.0004 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295807 rs2295807 rs2295807 rs201568641 1 1538 10 1/0 0,245,254 +rs2295807 19 55290164 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55290164 55290164 Chr19(GRCh37):g.55290164G>A 715+50 715+50 NM_014219.2:c.715+50G>A p.? p.? 5 5 604937 50 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995929 8.04836 0 rs2295807 yes no Frequency 1 0.000000 0 0.000147 0.000050 0.000000 0.002000 0.000109 0.000000 0.000133 0.000000 0.000177 0.002000 36 1 0 17 2 0 15 0 1 245332 20136 31506 8502 18384 24874 112556 23730 5644 0.000065 0.000000 0.000000 0.000706 0.000109 0.000000 0.000071 0.000000 0.000000 8 0 0 3 1 0 4 0 0 20 1 0 11 0 0 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.511811 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.5569 . . . . . . . . 1.975e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0002 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.33 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.551e-05 0.0001 0 0.0019 0.0001 0 0.0001 0 0 0 0.0003 0 0.0041 0 0 0.0004 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295807 rs2295807 rs2295807 rs201568641 1 1538 10 1/0 0,245,254 +rs2295807 19 55290164 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290164 55290164 Chr19(GRCh37):g.55290164G>A *26136 *26136 NM_001291695.1:c.*26136G>A p.? p.? 8 604953 26280 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2295807 yes no Frequency 1 0.000000 0 0.000147 0.000050 0.000000 0.002000 0.000109 0.000000 0.000133 0.000000 0.000177 0.002000 36 1 0 17 2 0 15 0 1 245332 20136 31506 8502 18384 24874 112556 23730 5644 0.000065 0.000000 0.000000 0.000706 0.000109 0.000000 0.000071 0.000000 0.000000 8 0 0 3 1 0 4 0 0 20 1 0 11 0 0 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.511811 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.5569 . . . . . . . . 1.975e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0002 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.33 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.551e-05 0.0001 0 0.0019 0.0001 0 0.0001 0 0 0 0.0003 0 0.0041 0 0 0.0004 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295807 rs2295807 rs2295807 rs201568641 1 1538 10 1/0 0,245,254 +rs79050870 19 55290215 A C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55290215 55290215 Chr19(GRCh37):g.55290215A>C 715+101 715+101 NM_014218.2:c.715+101A>C p.? p.? 5 5 604936 101 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995929 9.01825 0 rs79050870 no no 0 0.000000 0 0.000076 0.000000 0.002646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002646 2 0 2 0 0 0 0 0 0 26172 6882 756 244 1538 0 12746 3174 832 0.500000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transversion A C A>C 0.000 -3.749 255 PASS . . . . . . . . . . . . . . . . 0.37984496 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.0656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.31 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.642e-05 0.0026 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79050870 rs200286701 1 1538 10 1/0 0,238,255 +rs79050870 19 55290215 A C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55290215 55290215 Chr19(GRCh37):g.55290215A>C 715+101 715+101 NM_014219.2:c.715+101A>C p.? p.? 5 5 604937 101 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995929 8.42562 0 rs79050870 no no 0 0.000000 0 0.000076 0.000000 0.002646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002646 2 0 2 0 0 0 0 0 0 26172 6882 756 244 1538 0 12746 3174 832 0.500000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transversion A C A>C 0.000 -3.749 255 PASS . . . . . . . . . . . . . . . . 0.37984496 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.0656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.31 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.642e-05 0.0026 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79050870 rs200286701 1 1538 10 1/0 0,238,255 +rs79050870 19 55290215 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290215 55290215 Chr19(GRCh37):g.55290215A>C *26187 *26187 NM_001291695.1:c.*26187A>C p.? p.? 8 604953 26331 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs79050870 no no 0 0.000000 0 0.000076 0.000000 0.002646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002646 2 0 2 0 0 0 0 0 0 26172 6882 756 244 1538 0 12746 3174 832 0.500000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transversion A C A>C 0.000 -3.749 255 PASS . . . . . . . . . . . . . . . . 0.37984496 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.0656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.31 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.642e-05 0.0026 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79050870 rs200286701 1 1538 10 1/0 0,238,255 +rs2295808 19 55290217 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55290217 55290217 Chr19(GRCh37):g.55290217T>C 715+103 715+103 NM_014218.2:c.715+103T>C p.? p.? 5 5 604936 103 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995929 9.01825 0 rs2295808 yes no Frequency 1 0.000000 0 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 0.000000 0.000236 3 0 0 0 0 0 3 0 0 26176 6898 748 244 1544 0 12732 3174 836 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.31 0.35 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs2295808 rs2295808 rs2295808 rs201081756 1 1538 10 1/0 0,251,254 +rs2295808 19 55290217 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55290217 55290217 Chr19(GRCh37):g.55290217T>C 715+103 715+103 NM_014219.2:c.715+103T>C p.? p.? 5 5 604937 103 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995929 8.42562 0 rs2295808 yes no Frequency 1 0.000000 0 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 0.000000 0.000236 3 0 0 0 0 0 3 0 0 26176 6898 748 244 1544 0 12732 3174 836 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.31 0.35 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs2295808 rs2295808 rs2295808 rs201081756 1 1538 10 1/0 0,251,254 +rs2295808 19 55290217 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290217 55290217 Chr19(GRCh37):g.55290217T>C *26189 *26189 NM_001291695.1:c.*26189T>C p.? p.? 8 604953 26333 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2295808 yes no Frequency 1 0.000000 0 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 0.000000 0.000236 3 0 0 0 0 0 3 0 0 26176 6898 748 244 1544 0 12732 3174 836 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.31 0.35 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs2295808 rs2295808 rs2295808 rs201081756 1 1538 10 1/0 0,251,254 +rs670771 19 55294931 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55294931 55294931 Chr19(GRCh37):g.55294931T>C 818-7 818-7 NM_014218.2:c.818-7T>C p.? p.? 7 6 604936 -7 3' 85.984 10.489 0.959938 XII.87 84.4733 10.923 0.945992 13.3697 0.00309303 rs670771 yes no Frequency/1000G 2 0.000000 0 0.003395 0.012100 0.000000 0.000000 0.000000 0.001400 0.001297 0.013811 0.000702 0.000000 0.000000 0.000068 0.000017 0.000000 0.000327 0.013811 343 314 23 0 0 2 2 0 2 264472 22736 32760 9336 18604 29444 120524 24944 6124 0.000181 0.002023 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 24 23 1 0 0 0 0 0 0 295 268 21 0 0 2 2 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8376 4256 12632 0 62 62 0 0.0143585 0.0048842 0 0.0143585 0.0048842 100 COSM6351248 Breast 0.000408 2453 transition T C T>C 0.008 -0.037 255 PASS . . . . . 0.012 0.0034 0.0014 . . . . . . . . 0.70258623 . . @ 163 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 232.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) 0.014 0.0049 . 0.014 0.0049 . . -0.4682 . . . . . . . . 1.292e-03 . . . 0.0137 0.0018 0.0009 0 0 7.416e-05 0 6.395e-05 0.0137 0.0013 0.0009 0 0 0 0 6.433e-05 . . . . . . ncRNA_intronic intronic intronic . . . 0.0034 . . . 0.32 0.32 182 ENSG00000215765 . KIR2DL1 . . . . . . 474 0.007295 64976 457 0.00761844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.029 . . . . . . . . . . . . . . . . . . 0 0 . 0.004884 . . . . . 0.0151 0.0011 0.0007 0 0 0 9.308e-06 0.0002 6.793e-05 0.0113 0.0033 0.0013 0 0 0 7.638e-05 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs670771 rs670771 rs670771 rs200877549 1 1538 10 1/0 0,222,218 +rs670771 19 55294931 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55294931 55294931 Chr19(GRCh37):g.55294931T>C 818-7 818-7 NM_014219.2:c.818-7T>C p.? p.? 7 6 604937 -7 3' 85.984 10.489 0.959938 XII.05 84.4733 10.923 0.945992 13.2414 0.00309303 rs670771 yes no Frequency/1000G 2 0.000000 0 0.003395 0.012100 0.000000 0.000000 0.000000 0.001400 0.001297 0.013811 0.000702 0.000000 0.000000 0.000068 0.000017 0.000000 0.000327 0.013811 343 314 23 0 0 2 2 0 2 264472 22736 32760 9336 18604 29444 120524 24944 6124 0.000181 0.002023 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 24 23 1 0 0 0 0 0 0 295 268 21 0 0 2 2 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8376 4256 12632 0 62 62 0 0.0143585 0.0048842 0 0.0143585 0.0048842 100 COSM6351248 Breast 0.000408 2453 transition T C T>C 0.008 -0.037 255 PASS . . . . . 0.012 0.0034 0.0014 . . . . . . . . 0.70258623 . . @ 163 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 232.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) 0.014 0.0049 . 0.014 0.0049 . . -0.4682 . . . . . . . . 1.292e-03 . . . 0.0137 0.0018 0.0009 0 0 7.416e-05 0 6.395e-05 0.0137 0.0013 0.0009 0 0 0 0 6.433e-05 . . . . . . ncRNA_intronic intronic intronic . . . 0.0034 . . . 0.32 0.32 182 ENSG00000215765 . KIR2DL1 . . . . . . 474 0.007295 64976 457 0.00761844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.029 . . . . . . . . . . . . . . . . . . 0 0 . 0.004884 . . . . . 0.0151 0.0011 0.0007 0 0 0 9.308e-06 0.0002 6.793e-05 0.0113 0.0033 0.0013 0 0 0 7.638e-05 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs670771 rs670771 rs670771 rs200877549 1 1538 10 1/0 0,222,218 +rs670771 19 55294931 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55294931 55294931 Chr19(GRCh37):g.55294931T>C *30903 *30903 NM_001291695.1:c.*30903T>C p.? p.? 8 604953 31047 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs670771 yes no Frequency/1000G 2 0.000000 0 0.003395 0.012100 0.000000 0.000000 0.000000 0.001400 0.001297 0.013811 0.000702 0.000000 0.000000 0.000068 0.000017 0.000000 0.000327 0.013811 343 314 23 0 0 2 2 0 2 264472 22736 32760 9336 18604 29444 120524 24944 6124 0.000181 0.002023 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 24 23 1 0 0 0 0 0 0 295 268 21 0 0 2 2 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8376 4256 12632 0 62 62 0 0.0143585 0.0048842 0 0.0143585 0.0048842 100 COSM6351248 Breast 0.000408 2453 transition T C T>C 0.008 -0.037 255 PASS . . . . . 0.012 0.0034 0.0014 . . . . . . . . 0.70258623 . . @ 163 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 232.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) 0.014 0.0049 . 0.014 0.0049 . . -0.4682 . . . . . . . . 1.292e-03 . . . 0.0137 0.0018 0.0009 0 0 7.416e-05 0 6.395e-05 0.0137 0.0013 0.0009 0 0 0 0 6.433e-05 . . . . . . ncRNA_intronic intronic intronic . . . 0.0034 . . . 0.32 0.32 182 ENSG00000215765 . KIR2DL1 . . . . . . 474 0.007295 64976 457 0.00761844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.029 . . . . . . . . . . . . . . . . . . 0 0 . 0.004884 . . . . . 0.0151 0.0011 0.0007 0 0 0 9.308e-06 0.0002 6.793e-05 0.0113 0.0033 0.0013 0 0 0 7.638e-05 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs670771 rs670771 rs670771 rs200877549 1 1538 10 1/0 0,222,218 +rs586234 19 55294969 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55294969 55294969 Chr19(GRCh37):g.55294969A>G 849 849 NM_014218.2:c.849A>G p.Gly283= p.Gly283Gly 7 604936 -22 5' 86.8647 IX.15 0.995492 X.69 86.8647 IX.15 0.995492 X.01 0 rs586234 yes no Frequency/HapMap 2 0.000000 0 0.000008 0.000000 0.000031 0.000000 0.000000 0.000034 0.000000 0.000000 0.000000 0.000034 2 0 1 0 0 1 0 0 0 238872 15076 32426 9246 17064 29764 108248 21752 5296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 69 Exomes COSM6352253 Breast 0.000408 2453 transition A G A>G 0.000 -0.682 G Gly GGA 0.246 G Gly GGG 0.250 283 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon7:c.A849G:p.G283G . . 0.68582374 . . @ 179 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 261.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggG|G283|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.7) . . . . . . . -0.5292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.17 182 . . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.054 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.373e-06 3.084e-05 0 0 0 0 0 3.36e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.054 rs586234 rs586234 rs586234 rs202147559 1 1538 10 1/0 0,219,216 +rs586234 (chr19:55294969 A/G) 19 55294969 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs586234 19 55294969 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55294969 55294969 Chr19(GRCh37):g.55294969A>G *30941 *30941 NM_001291695.1:c.*30941A>G p.? p.? 8 604953 31085 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs586234 yes no Frequency/HapMap 2 0.000000 0 0.000008 0.000000 0.000031 0.000000 0.000000 0.000034 0.000000 0.000000 0.000000 0.000034 2 0 1 0 0 1 0 0 0 238872 15076 32426 9246 17064 29764 108248 21752 5296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 69 Exomes COSM6352253 Breast 0.000408 2453 transition A G A>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon7:c.A849G:p.G283G . . 0.68582374 . . @ 179 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 261.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggG|G283|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.7) . . . . . . . -0.5292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.17 182 . . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.054 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.373e-06 3.084e-05 0 0 0 0 0 3.36e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.054 rs586234 rs586234 rs586234 rs202147559 1 1538 10 1/0 0,219,216 +rs200030491 19 55299780 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55299780 55299780 Chr19(GRCh37):g.55299780T>C *35752 *35752 NM_001291695.1:c.*35752T>C p.? p.? 8 604953 35896 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200030491 no no 0 T 0.000000 0 transition T C T>C 0.000 -3.588 197 PASS . . . . . . . . . . . . . . . . 0.15164836 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 455.0 . . DOWNSTREAM(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.0824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . 0.52 0.59 182 . . . . . dist\x3d4002\x3bdist\x3d15287 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs200030491 rs200030491 1 1538 10 1/0 0,165,255 +rs796719950 19 55299781 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55299781 55299781 Chr19(GRCh37):g.55299781G>C *35753 *35753 NM_001291695.1:c.*35753G>C p.? p.? 8 604953 35897 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796719950 no no 0 G 0.000000 0 transversion G C G>C 0.000 -1.570 196 PASS . . . . . . . . . . . . . . . . 0.14847161 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 458.0 . . DOWNSTREAM(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.5166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . . . . . . dist\x3d4003\x3bdist\x3d15286 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,165,255 +rs796962729 19 55299797 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55299797 55299797 Chr19(GRCh37):g.55299797C>T *35769 *35769 NM_001291695.1:c.*35769C>T p.? p.? 8 604953 35913 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796962729 no no 0 C 0.000000 0 transition C T C>T 0.000 -4.234 179 PASS . . . . . . . . . . . . . . . . 0.11134904 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 467.0 . . DOWNSTREAM(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.1244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . . . . . . dist\x3d4019\x3bdist\x3d15270 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,161,255 +rs604076 19 55315326 A C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55315326 55315326 Chr19(GRCh37):g.55315326A>C 41-20 41-20 NM_001080770.1:c.41-20A>C p.? p.? 2 1 604945 -20 3' 96.9454 X.14 0.994029 7.74947 96.9454 X.81 0.99406 8.24419 0.00668671 55315326 -72.6096 rs604076 yes no Frequency 1 C 0.000000 0 transversion A C A>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.61616164 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.3534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.21 0.18 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.141 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs604076 rs604076 rs604076 rs201754323 1 1538 10 1/0 0,255,255 +rs604076 19 55315326 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55315326 55315326 Chr19(GRCh37):g.55315326A>C *51298 *51298 NM_001291695.1:c.*51298A>C p.? p.? 8 604953 51442 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs604076 yes no Frequency 1 C 0.000000 0 transversion A C A>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.61616164 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.3534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.21 0.18 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.141 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs604076 rs604076 rs604076 rs201754323 1 1538 10 1/0 0,255,255 +rs597598 19 55315440 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55315440 55315440 Chr19(GRCh37):g.55315440A>G 76+59 76+59 NM_001080770.1:c.76+59A>G p.? p.? 2 2 604945 59 5' 82.5488 8.73118 0.987644 0.946637 82.5488 8.73118 0.987644 0.918784 0 rs597598 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.798722 0.851000 0.528600 0.940500 0.827000 0.832900 0.006947 0.011211 0.025641 0.000000 0.007353 0.000000 0.003863 0.015209 0.009709 0.025641 39 10 4 0 1 0 14 8 2 5614 892 156 74 136 0 3624 526 206 0.076923 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.125000 0.000000 3 0 2 0 0 0 0 1 0 33 10 0 0 1 0 14 6 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition A G A>G 0.000 -2.861 111 PASS . . . . . 0.85 0.8 0.83 0.94 0.83 0.53 . . . . . 0.9814815 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.9868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2013 . . . 0.19 0.15 182 . . KIR2DL4 . . . . . . 24572 0.37817 64976 21210 0.353583 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.804 0.739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0112 0.0069 0.0256 0 0.0074 0.0152 0.0039 0.0097 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.8 rs597598 rs597598 rs597598 rs145568516 1 1538 255 1.I 0,0,255 +rs597598 19 55315440 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55315440 55315440 Chr19(GRCh37):g.55315440A>G *51412 *51412 NM_001291695.1:c.*51412A>G p.? p.? 8 604953 51556 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs597598 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.798722 0.851000 0.528600 0.940500 0.827000 0.832900 0.006947 0.011211 0.025641 0.000000 0.007353 0.000000 0.003863 0.015209 0.009709 0.025641 39 10 4 0 1 0 14 8 2 5614 892 156 74 136 0 3624 526 206 0.076923 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.125000 0.000000 3 0 2 0 0 0 0 1 0 33 10 0 0 1 0 14 6 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition A G A>G 0.000 -2.861 111 PASS . . . . . 0.85 0.8 0.83 0.94 0.83 0.53 . . . . . 0.9814815 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.9868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2013 . . . 0.19 0.15 182 . . KIR2DL4 . . . . . . 24572 0.37817 64976 21210 0.353583 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.804 0.739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0112 0.0069 0.0256 0 0.0074 0.0152 0.0039 0.0097 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.8 rs597598 rs597598 rs597598 rs145568516 1 1538 255 1.I 0,0,255 +rs618835 19 55316329 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55316329 55316329 Chr19(GRCh37):g.55316329A>G 158 158 NM_001080770.1:c.158A>G p.Tyr53Cys p.Tyr53Cys 3 604945 82 3' 78.626 7.00293 0.95888 7.85391 78.626 7.00293 0.95888 7.85391 0 Immunoglobulin Immunoglobulin subtype rs618835 yes no Frequency/HapMap 2 G 0.000000 0 COSM6353651|COSM6353651 Lung|Breast 0.000419|0.000410 2388|2442 transition A G A>G 0.000 -0.763 Y Tyr TAT 0.438 C Cys TGT 0.448 53 7 3 Macaque -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C15 143.11 92.04 Tolerated 0.16 III.33 bad 6.085E-4 0.0006893 111 PASS . . . . . . . . . . . . . . . . 0.9588015 . . @ 256 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.266 . @ . . . . . 1 0.017 . . 267.0 . . . . . . . . . . -1.2125 -1.445 -1.212 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.123 . . exonic exonic exonic . . 0.054 @ . . . 0.22 0.17 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.012 . 709 0.0109117 64976 709 0.0118194 59986 Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.235 . . 0.092 . . . 0.450 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.615 . . 0.589 . . . . . . 0 0.357 . . . . . 0.120 . 0.336 . HOM 0.04 . 0.250 0.312 . . . . . . . . . . IV.31 . . I.42 -2.83 . 0.070000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.824 -0.824000 . . 0.070000 . . 1.0E-111 0.000 0.063 . 0.016 0.000 . 0.034 . 0.002 -0.824 -2.204 0.25 rs55761930 rs55761930 rs618835 rs117677969 1 1538 255 1.I 0,0,255 +rs618835 19 55316329 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55316329 55316329 Chr19(GRCh37):g.55316329A>G *52301 *52301 NM_001291695.1:c.*52301A>G p.? p.? 8 604953 52445 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs618835 yes no Frequency/HapMap 2 G 0.000000 0 COSM6353651|COSM6353651 Lung|Breast 0.000419|0.000410 2388|2442 transition A G A>G 0.000 -0.763 111 PASS . . . . . . . . . . . . . . . . 0.9588015 . . @ 256 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.266 . @ . . . . . 1 0.017 . . 267.0 . . . . . . . . . . -1.2125 -1.445 -1.212 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.123 . . exonic exonic exonic . . 0.054 @ . . . 0.22 0.17 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.012 . 709 0.0109117 64976 709 0.0118194 59986 Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.235 . . 0.092 . . . 0.450 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.615 . . 0.589 . . . . . . 0 0.357 . . . . . 0.120 . 0.336 . HOM 0.04 . 0.250 0.312 . . . . . . . . . . IV.31 . . I.42 -2.83 . 0.070000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.824 -0.824000 . . 0.070000 . . 1.0E-111 0.000 0.063 . 0.016 0.000 . 0.034 . 0.002 -0.824 -2.204 0.25 rs55761930 rs55761930 rs618835 rs117677969 1 1538 255 1.I 0,0,255 +. 19 55317395 TCTC T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 deletion intron GRCh37 55317398 55317400 Chr19(GRCh37):g.55317398_55317400del 362-8 362-6 NM_001080770.1:c.362-8_362-6del p.? p.? 4 3 604945 -6 3' 95.1486 13.6334 0.990721 15.5117 90.9029 X.11 0.92409 X.68 -0.120478 CCT 255 Pass . . . . . . . . . . . . . . . . 0.21019109 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,68 +. 19 55317395 TCTC T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 deletion downstream GRCh37 55317398 55317400 Chr19(GRCh37):g.55317398_55317400del *53370 *53372 NM_001291695.1:c.*53370_*53372del p.? p.? 8 604953 53514 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 CCT 255 Pass . . . . . . . . . . . . . . . . 0.21019109 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,68 +rs548305067 19 55317412 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317412 55317412 Chr19(GRCh37):g.55317412A>T 368 368 NM_001080770.1:c.368A>T p.Tyr123Phe p.Tyr123Phe 4 604945 7 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.989653 14.8624 -0.000359334 rs548305067 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.117 Y Tyr TAT 0.438 F Phe TTT 0.454 123 7 5 Mouse 3 3 4 0.2 0 6.II 5.II 136 132 22 C0 143.11 21.23 Tolerated 0.6 III.33 bad 6.618E-4 0.0008124 206 PASS . . . . . . . . . . . . . . . . 0.17435898 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.163 . . 195.0 . . . . . . . . . . -0.9496 -1.119 -0.950 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.017 . . 0.417 . . . 0.469 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.628 . . 0 0 0 0 0 0 . 0.279 . . 0.402 . . . . . . 0 0.330 . . . . . 0.080 . 0.271 . HET 0.08 . . . . . . . . . . . . . III.81 . . 1.V -0.172 . 0.090000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.120 -0.120000 . . 0.090000 . . 1.0E-206 0.000 0.063 . 0.043 0.041 . 0.084 . 0.093 -0.120 0.804 . . . . . 1 1538 10 1/0 0,204,255 +rs548305067 19 55317412 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317412 55317412 Chr19(GRCh37):g.55317412A>T *53384 *53384 NM_001291695.1:c.*53384A>T p.? p.? 8 604953 53528 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs548305067 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.117 206 PASS . . . . . . . . . . . . . . . . 0.17435898 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.163 . . 195.0 . . . . . . . . . . -0.9496 -1.119 -0.950 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.017 . . 0.417 . . . 0.469 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.628 . . 0 0 0 0 0 0 . 0.279 . . 0.402 . . . . . . 0 0.330 . . . . . 0.080 . 0.271 . HET 0.08 . . . . . . . . . . . . . III.81 . . 1.V -0.172 . 0.090000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.120 -0.120000 . . 0.090000 . . 1.0E-206 0.000 0.063 . 0.043 0.041 . 0.084 . 0.093 -0.120 0.804 . . . . . 1 1538 10 1/0 0,204,255 +rs796298317 19 55317415 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317415 55317415 Chr19(GRCh37):g.55317415A>G 371 371 NM_001080770.1:c.371A>G p.Glu124Gly p.Glu124Gly 4 604945 10 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.991943 15.1434 0.000411148 rs796298317 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 E Glu GAG 0.583 G Gly GGG 0.250 124 7 3 Macaque -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 128.69 28.37 Tolerated 0.17 III.33 good 3.484E-1 0.01528 209 PASS . . . . . . . . . . . . . . . . 0.1826923 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.067 . @ . . . . . 1 0.171 . . 208.0 . . . . . . . . . . -1.2665 -1.382 -1.266 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.130 . . exonic exonic exonic . . 0.081 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.007 . . 0.431 . . . 0.049 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.710 . . 0 0 0 0 0 0 . 0.131 . . 0.112 . . . . . . 0 0.276 . . . . . 0.104 . 0.235 . HET 0.15 . . . . . . . . . . . . . IV.43 . . 1.V -1.55 . 0.180000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.654 -0.654000 . . 0.180000 . . 1.0E-209 0.000 0.063 . 0.062 0.033 . 0.065 . 0.010 -0.654 0.679 . . . . . 1 1538 10 1/0 0,202,255 +rs796298317 19 55317415 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317415 55317415 Chr19(GRCh37):g.55317415A>G *53387 *53387 NM_001291695.1:c.*53387A>G p.? p.? 8 604953 53531 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796298317 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 209 PASS . . . . . . . . . . . . . . . . 0.1826923 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.067 . @ . . . . . 1 0.171 . . 208.0 . . . . . . . . . . -1.2665 -1.382 -1.266 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.130 . . exonic exonic exonic . . 0.081 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.007 . . 0.431 . . . 0.049 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.710 . . 0 0 0 0 0 0 . 0.131 . . 0.112 . . . . . . 0 0.276 . . . . . 0.104 . 0.235 . HET 0.15 . . . . . . . . . . . . . IV.43 . . 1.V -1.55 . 0.180000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.654 -0.654000 . . 0.180000 . . 1.0E-209 0.000 0.063 . 0.062 0.033 . 0.065 . 0.010 -0.654 0.679 . . . . . 1 1538 10 1/0 0,202,255 +rs201419800 19 55317425 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317425 55317425 Chr19(GRCh37):g.55317425G>A 381 381 NM_001080770.1:c.381G>A p.Ser127= p.Ser127Ser 4 604945 20 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.993014 15.47 0.000771492 rs201419800 yes no Frequency 1 G 0.000000 0 0.000204 0.000000 0.000191 0.009662 0.000000 0.000000 0.000112 0.000000 0.000000 0.009662 13 0 1 8 0 0 4 0 0 63800 8006 5240 828 4378 3610 35602 4922 1214 0.000031 0.000000 0.000000 0.002415 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 11 0 1 6 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.458 S Ser TCG 0.056 S Ser TCA 0.148 127 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . . . . . . . . . -1.0552 . . . . . . . . 1.304e-04 . . . 0 0.0007 0.0007 0 0 0.0014 0 0 0 0.0003 0.0007 0 0 0.0004 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.27 182 ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0.0093 0 0 9.682e-05 0 0 0 0.0002 0 0.0128 0 0 0.0002 0 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs201419800 rs201419800 1 1538 10 1/0 0,197,255 +rs201419800 19 55317425 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317425 55317425 Chr19(GRCh37):g.55317425G>A *53397 *53397 NM_001291695.1:c.*53397G>A p.? p.? 8 604953 53541 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs201419800 yes no Frequency 1 G 0.000000 0 0.000204 0.000000 0.000191 0.009662 0.000000 0.000000 0.000112 0.000000 0.000000 0.009662 13 0 1 8 0 0 4 0 0 63800 8006 5240 828 4378 3610 35602 4922 1214 0.000031 0.000000 0.000000 0.002415 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 11 0 1 6 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.458 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . . . . . . . . . -1.0552 . . . . . . . . 1.304e-04 . . . 0 0.0007 0.0007 0 0 0.0014 0 0 0 0.0003 0.0007 0 0 0.0004 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.27 182 ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0.0093 0 0 9.682e-05 0 0 0 0.0002 0 0.0128 0 0 0.0002 0 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs201419800 rs201419800 1 1538 10 1/0 0,197,255 +rs778634886 19 55317428 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317428 55317428 Chr19(GRCh37):g.55317428T>C 384 384 NM_001080770.1:c.384T>C p.Leu128= p.Leu128Leu 4 604945 23 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 16.0181 0 rs778634886 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 0.044 L Leu CTT 0.129 L Leu CTC 0.197 128 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . . . . . . . . . -0.4122 . . . . . . . . 1.007e-05 . . . 0 7.904e-05 0.0007 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,255 +rs778634886 19 55317428 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317428 55317428 Chr19(GRCh37):g.55317428T>C *53400 *53400 NM_001291695.1:c.*53400T>C p.? p.? 8 604953 53544 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs778634886 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 0.044 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . . . . . . . . . -0.4122 . . . . . . . . 1.007e-05 . . . 0 7.904e-05 0.0007 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,255 +rs748394765 19 55317429 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317429 55317429 Chr19(GRCh37):g.55317429A>T 385 385 NM_001080770.1:c.385A>T p.Thr129Ser p.Thr129Ser 4 604945 24 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.4226 0 rs748394765 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.117 T Thr ACA 0.280 S Ser TCA 0.148 129 7 2 Chimp 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 103.68 0.00 Tolerated 1 III.33 good 9.477E-1 0.002708 202 PASS . . . . . . . . . . . . . . . . 0.16386555 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.048 . . 238.0 . . . . . . . . . . -2.0188 -1.944 -2.019 c . . . . . 1.007e-05 . . . 0 7.867e-05 0.0007 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.131 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.007 . . . . T 0.087 0.004 . . 37 . 0.019 . . 0.502 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.135 . . 0.040 . . . . . . 0 0.010 . . . . . 0.060 . 0.005 . HET 1 . . . . . . . . . . . . . 3.1338 . . 1.V -0.0469 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.086 -0.086000 . . 1.000000 . . 1.0E-202 0.002 0.151 . 0.043 0.001 . 0.186 . 0.081 -0.086 -0.152 . . . . . 1 1538 10 1/0 0,194,255 +rs748394765 19 55317429 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317429 55317429 Chr19(GRCh37):g.55317429A>T *53401 *53401 NM_001291695.1:c.*53401A>T p.? p.? 8 604953 53545 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs748394765 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.117 202 PASS . . . . . . . . . . . . . . . . 0.16386555 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.048 . . 238.0 . . . . . . . . . . -2.0188 -1.944 -2.019 c . . . . . 1.007e-05 . . . 0 7.867e-05 0.0007 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.131 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.007 . . . . T 0.087 0.004 . . 37 . 0.019 . . 0.502 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.135 . . 0.040 . . . . . . 0 0.010 . . . . . 0.060 . 0.005 . HET 1 . . . . . . . . . . . . . 3.1338 . . 1.V -0.0469 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.086 -0.086000 . . 1.000000 . . 1.0E-202 0.002 0.151 . 0.043 0.001 . 0.186 . 0.081 -0.086 -0.152 . . . . . 1 1538 10 1/0 0,194,255 +rs202246882 19 55317436 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317436 55317436 Chr19(GRCh37):g.55317436G>A 392 392 NM_001080770.1:c.392G>A p.Arg131Gln p.Arg131Gln 4 604945 31 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.3381 0 Immunoglobulin subtype rs202246882 yes no Frequency 1 G 0.000000 0 0.000105 0.000139 0.000219 0.000000 0.000000 0.000596 0.000063 0.000000 0.000000 0.000596 6 1 1 0 0 2 2 0 0 57144 7184 4574 738 3950 3356 31798 4450 1094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.682 R Arg CGG 0.207 Q Gln CAG 0.744 131 7 2 Chimp 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 116.23 0.00 Tolerated 0.52 III.33 good 9.849E-1 0.1106 229 PASS . . . . . . . . . . . . . . . . 0.23958333 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.100 . . 288.0 . . . . . . . . . . -2.1737 -2.128 -2.174 c . . . . . 8.078e-05 . . . 0 0.0004 0.0013 0 0 0.0002 0 0.0016 0 0.0003 0.0007 0 0 0.0003 0 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.071 @ . . . 0.22 0.26 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.049 . . . . T 0.010 0.001 . . 37 . 0.013 . . 0.407 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.170 . . 0.040 . . . . . . 0 0.010 . . . . . 0.022 . 0.023 . HET 1 . . . . . . . . . . . . . I.57 . . 1.V -1.94 . 1.000000 . . . . . . 0.003 . . . 0 0.0001 0.0002 0 0 0 7.126e-05 0 0.0006 0.0004 0.0001 0 0 0 0 0 0 . . 0.133 . -0.822 -0.822000 . . 1.000000 . . 1.0E-229 0.000 0.063 . 0.074 0.002 . 0.022 . 0.090 -0.822 -1.403 . . . rs75193313 rs202246882 1 1538 10 1/0 0,193,251 +rs202246882 19 55317436 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317436 55317436 Chr19(GRCh37):g.55317436G>A *53408 *53408 NM_001291695.1:c.*53408G>A p.? p.? 8 604953 53552 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs202246882 yes no Frequency 1 G 0.000000 0 0.000105 0.000139 0.000219 0.000000 0.000000 0.000596 0.000063 0.000000 0.000000 0.000596 6 1 1 0 0 2 2 0 0 57144 7184 4574 738 3950 3356 31798 4450 1094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.682 229 PASS . . . . . . . . . . . . . . . . 0.23958333 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.100 . . 288.0 . . . . . . . . . . -2.1737 -2.128 -2.174 c . . . . . 8.078e-05 . . . 0 0.0004 0.0013 0 0 0.0002 0 0.0016 0 0.0003 0.0007 0 0 0.0003 0 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.071 @ . . . 0.22 0.26 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.049 . . . . T 0.010 0.001 . . 37 . 0.013 . . 0.407 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.170 . . 0.040 . . . . . . 0 0.010 . . . . . 0.022 . 0.023 . HET 1 . . . . . . . . . . . . . I.57 . . 1.V -1.94 . 1.000000 . . . . . . 0.003 . . . 0 0.0001 0.0002 0 0 0 7.126e-05 0 0.0006 0.0004 0.0001 0 0 0 0 0 0 . . 0.133 . -0.822 -0.822000 . . 1.000000 . . 1.0E-229 0.000 0.063 . 0.074 0.002 . 0.022 . 0.090 -0.822 -1.403 . . . rs75193313 rs202246882 1 1538 10 1/0 0,193,251 +rs796139593 19 55317489 C A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317489 55317489 Chr19(GRCh37):g.55317489C>A 445 445 NM_001080770.1:c.445C>A p.Gln149Lys p.Gln149Lys 4 604945 84 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs796139593 no no 0 C 0.000000 0 transversion C A C>A 0.000 -1.812 Q Gln CAG 0.744 K Lys AAG 0.575 149 7 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 95.81 21.98 Tolerated 0.52 III.33 good 8.728E-1 0.07819 228 PASS . . . . . . . . . . . . . . . . 0.23569794 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.056 . . 437.0 . . . . . . . . . . -1.4929 -1.679 -1.493 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.123 . . exonic exonic exonic . . 0.068 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.003 0.001 . . 37 . 0.174 . . 0.258 . . . 0.299 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.228 . . 0.266 . . . . . . 0 0.524 . . . . . 0.099 . 0.178 . HET 0.01 . . . . . . . . . . . . . IV.31 . . 1.IV -2.07 . 0.060000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.920 -1.920000 . . 0.060000 . . 1.0E-228 0.000 0.063 . 0.016 0.001 . 0.016 . 0.000 -1.920 -0.304 . . . . . 1 1538 10 1/0 0,175,245 +rs796139593 19 55317489 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317489 55317489 Chr19(GRCh37):g.55317489C>A *53461 *53461 NM_001291695.1:c.*53461C>A p.? p.? 8 604953 53605 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796139593 no no 0 C 0.000000 0 transversion C A C>A 0.000 -1.812 228 PASS . . . . . . . . . . . . . . . . 0.23569794 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.056 . . 437.0 . . . . . . . . . . -1.4929 -1.679 -1.493 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.123 . . exonic exonic exonic . . 0.068 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.003 0.001 . . 37 . 0.174 . . 0.258 . . . 0.299 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.228 . . 0.266 . . . . . . 0 0.524 . . . . . 0.099 . 0.178 . HET 0.01 . . . . . . . . . . . . . IV.31 . . 1.IV -2.07 . 0.060000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.920 -1.920000 . . 0.060000 . . 1.0E-228 0.000 0.063 . 0.016 0.001 . 0.016 . 0.000 -1.920 -0.304 . . . . . 1 1538 10 1/0 0,175,245 +rs746343340 19 55317490 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317490 55317490 Chr19(GRCh37):g.55317490A>G 446 446 NM_001080770.1:c.446A>G p.Gln149Arg p.Gln149Arg 4 604945 85 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs746343340 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14392 1780 1214 206 922 1354 7946 706 264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 92 Exomes transition A G A>G 0.000 -1.570 Q Gln CAG 0.744 R Arg CGG 0.207 149 7 1 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 95.81 0.00 Tolerated 0.53 III.33 good 4.607E-1 0.07819 231 PASS . . . . . . . . . . . . . . . . 0.2448037 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.003 . . 433.0 . . . . . . . . . . -2.1697 -2.207 -2.170 c . . . . . 1.189e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.075 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.005 0.001 . . 37 . 0.058 . . 0.346 . . . 0.029 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.112 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 0 0.010 . . . . . 0.208 . 0.081 . HET 1 . . . . . . . . . . . . . VI.45 . . 1.V -1.76 . 1.000000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.632 -1.632000 . . 1.000000 . . 1.0E-231 0.000 0.063 . 0.016 0.001 . 0.115 . 0.005 -1.632 -0.066 . . . . . 1 1538 10 1/0 0,176,243 +rs746343340 19 55317490 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317490 55317490 Chr19(GRCh37):g.55317490A>G *53462 *53462 NM_001291695.1:c.*53462A>G p.? p.? 8 604953 53606 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs746343340 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14392 1780 1214 206 922 1354 7946 706 264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 92 Exomes transition A G A>G 0.000 -1.570 231 PASS . . . . . . . . . . . . . . . . 0.2448037 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.003 . . 433.0 . . . . . . . . . . -2.1697 -2.207 -2.170 c . . . . . 1.189e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.075 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.005 0.001 . . 37 . 0.058 . . 0.346 . . . 0.029 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.112 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 0 0.010 . . . . . 0.208 . 0.081 . HET 1 . . . . . . . . . . . . . VI.45 . . 1.V -1.76 . 1.000000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.632 -1.632000 . . 1.000000 . . 1.0E-231 0.000 0.063 . 0.016 0.001 . 0.115 . 0.005 -1.632 -0.066 . . . . . 1 1538 10 1/0 0,176,243 +rs113248048 19 55317497 C A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317497 55317497 Chr19(GRCh37):g.55317497C>A 453 453 NM_001080770.1:c.453C>A p.Ser151= p.Ser151Ser 4 604945 92 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs113248048 no no 0 C 0.000000 0 transversion C A C>A 0.000 -2.942 S Ser TCC 0.220 S Ser TCA 0.148 151 227 PASS . . . . . . . . . . . . . . . . 0.2337963 . . @ 101 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 432.0 . . . . . . . . . . -0.8347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.13 0.29 182 ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs113248048 rs113248048 1 1538 10 1/0 0,175,245 +rs113248048 19 55317497 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317497 55317497 Chr19(GRCh37):g.55317497C>A *53469 *53469 NM_001291695.1:c.*53469C>A p.? p.? 8 604953 53613 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs113248048 no no 0 C 0.000000 0 transversion C A C>A 0.000 -2.942 227 PASS . . . . . . . . . . . . . . . . 0.2337963 . . @ 101 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 432.0 . . . . . . . . . . -0.8347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.13 0.29 182 ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs113248048 rs113248048 1 1538 10 1/0 0,175,245 +rs112266387 19 55317506 C G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317506 55317506 Chr19(GRCh37):g.55317506C>G 462 462 NM_001080770.1:c.462C>G p.Ile154Met p.Ile154Met 4 604945 101 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs112266387 no no 0 C 0.000000 0 transversion C G C>G 0.000 -4.395 I Ile ATC 0.481 M Met ATG 1.000 154 7 2 Chimp 2 1 2 0 0 5.II 5.VII 111 105 10 C0 152.61 0.00 Tolerated 0.33 III.33 good 8.554E-1 0.3386 224 PASS . . . . . . . . . . . . . . . . 0.22294372 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.017 . . 462.0 . . . . . . . . . . -2.5944 -2.648 -2.594 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.121 . . exonic exonic exonic . . 0.068 @ . . . 0.15 0.29 182 ENSG00000189013 . KIR2DL4 . . . 0.947 0.277 . . . . . . . Uncertain_significance . 0 . 0.016 . . . . T 0.002 0.001 . . 37 . 0.063 . . 0.409 . . . 0.009 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.174 . . 0.253 . . . . . . 0 0.010 . . . . . 0.117 . 0.088 . HET 1 . . . . . . . . . . . . . 4.VI . . 1.V -2.09 . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -4.463 -4.463000 . . 1.000000 . . 1.0E-224 0.000 0.063 . 0.043 0.000 . 0.028 . 0.012 -4.463 -1.928 . . . rs112266387 rs112266387 1 1538 10 1/0 0,171,245 +rs112266387 19 55317506 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317506 55317506 Chr19(GRCh37):g.55317506C>G *53478 *53478 NM_001291695.1:c.*53478C>G p.? p.? 8 604953 53622 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs112266387 no no 0 C 0.000000 0 transversion C G C>G 0.000 -4.395 224 PASS . . . . . . . . . . . . . . . . 0.22294372 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.017 . . 462.0 . . . . . . . . . . -2.5944 -2.648 -2.594 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.121 . . exonic exonic exonic . . 0.068 @ . . . 0.15 0.29 182 ENSG00000189013 . KIR2DL4 . . . 0.947 0.277 . . . . . . . Uncertain_significance . 0 . 0.016 . . . . T 0.002 0.001 . . 37 . 0.063 . . 0.409 . . . 0.009 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.174 . . 0.253 . . . . . . 0 0.010 . . . . . 0.117 . 0.088 . HET 1 . . . . . . . . . . . . . 4.VI . . 1.V -2.09 . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -4.463 -4.463000 . . 1.000000 . . 1.0E-224 0.000 0.063 . 0.043 0.000 . 0.028 . 0.012 -4.463 -1.928 . . . rs112266387 rs112266387 1 1538 10 1/0 0,171,245 +rs540514355 19 55317528 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317528 55317528 Chr19(GRCh37):g.55317528G>A 484 484 NM_001080770.1:c.484G>A p.Glu162Lys p.Glu162Lys 4 604945 123 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs540514355 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18600 2782 3584 444 2128 1894 6982 254 532 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 82 Exomes transition G A G>A 0.008 -0.037 E Glu GAA 0.417 K Lys AAA 0.425 162 7 4 Cow 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 126.69 0.00 Tolerated 0.64 III.33 good 6.703E-1 0.5508 207 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.17567568 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.347 . . 444.0 . . . . . . . . . . -0.8667 -1.080 -0.867 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.124 . . exonic exonic exonic . . 0.130 0.0002 . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.120 . . 0.229 . . . 0.408 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.461 . . 0.356 . . . . . . 0 0.682 . . . . . 0.066 . 0.129 . HET 0.11 . . . . . . . . . . . . . III.45 . . 1.V -0.0737 . 0.000000 . . . . . . 0.015 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . 0.009 0.009000 . . 0.000000 . . 1.0E-207 0.007 0.175 . 0.043 0.037 . 0.233 . 0.012 0.009 0.697 . . . . . 1 1538 10 1/0 0,169,255 +rs540514355 19 55317528 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317528 55317528 Chr19(GRCh37):g.55317528G>A *53500 *53500 NM_001291695.1:c.*53500G>A p.? p.? 8 604953 53644 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs540514355 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18600 2782 3584 444 2128 1894 6982 254 532 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 82 Exomes transition G A G>A 0.008 -0.037 207 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.17567568 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.347 . . 444.0 . . . . . . . . . . -0.8667 -1.080 -0.867 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.124 . . exonic exonic exonic . . 0.130 0.0002 . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.120 . . 0.229 . . . 0.408 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.461 . . 0.356 . . . . . . 0 0.682 . . . . . 0.066 . 0.129 . HET 0.11 . . . . . . . . . . . . . III.45 . . 1.V -0.0737 . 0.000000 . . . . . . 0.015 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . 0.009 0.009000 . . 0.000000 . . 1.0E-207 0.007 0.175 . 0.043 0.037 . 0.233 . 0.012 0.009 0.697 . . . . . 1 1538 10 1/0 0,169,255 +rs796093143 19 55317529 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317529 55317529 Chr19(GRCh37):g.55317529A>G 485 485 NM_001080770.1:c.485A>G p.Glu162Gly p.Glu162Gly 4 604945 124 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs796093143 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 E Glu GAA 0.417 G Gly GGA 0.246 162 7 4 Cow -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 126.69 81.06 Tolerated 0.21 III.33 good 3.101E-2 0.5508 212 PASS . . . . . . . . . . . . . . . . 0.19088937 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.095 . . 461.0 . . . . . . . . . . -1.4994 -1.623 -1.499 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.085 . . 0.367 . . . 0.215 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.760 . . 0 0 0 0 0 0 . 0.226 . . 0.260 . . . . . . 0 0.348 . . . . . 0.037 . 0.071 . HET 0.17 . . . . . . . . . . . . . 2.213 . . 1.V -1.93 . 0.120000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.753 -0.753000 . . 0.120000 . . 1.0E-212 0.000 0.063 . 0.016 0.016 . 0.016 . 0.003 -0.753 -0.504 . . . . . 1 1538 10 1/0 0,169,255 +rs796093143 19 55317529 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317529 55317529 Chr19(GRCh37):g.55317529A>G *53501 *53501 NM_001291695.1:c.*53501A>G p.? p.? 8 604953 53645 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796093143 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 212 PASS . . . . . . . . . . . . . . . . 0.19088937 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.095 . . 461.0 . . . . . . . . . . -1.4994 -1.623 -1.499 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.085 . . 0.367 . . . 0.215 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.760 . . 0 0 0 0 0 0 . 0.226 . . 0.260 . . . . . . 0 0.348 . . . . . 0.037 . 0.071 . HET 0.17 . . . . . . . . . . . . . 2.213 . . 1.V -1.93 . 0.120000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.753 -0.753000 . . 0.120000 . . 1.0E-212 0.000 0.063 . 0.016 0.016 . 0.016 . 0.003 -0.753 -0.504 . . . . . 1 1538 10 1/0 0,169,255 +rs796666015 19 55317530 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317530 55317530 Chr19(GRCh37):g.55317530A>G 486 486 NM_001080770.1:c.486A>G p.Glu162= p.Glu162Glu 4 604945 125 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs796666015 no no 0 A 0.000000 0 transition A G A>G 0.000 -1.086 E Glu GAA 0.417 E Glu GAG 0.583 162 219 PASS . . . . . . . . . . . . . . . . 0.20952381 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 420.0 . . . . . . . . . . -0.7251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,174,255 +rs796666015 19 55317530 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317530 55317530 Chr19(GRCh37):g.55317530A>G *53502 *53502 NM_001291695.1:c.*53502A>G p.? p.? 8 604953 53646 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796666015 no no 0 A 0.000000 0 transition A G A>G 0.000 -1.086 219 PASS . . . . . . . . . . . . . . . . 0.20952381 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 420.0 . . . . . . . . . . -0.7251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,174,255 +rs112694450 19 55317541 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317541 55317541 Chr19(GRCh37):g.55317541T>C 497 497 NM_001080770.1:c.497T>C p.Leu166Pro p.Leu166Pro 4 604945 136 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs112694450 no no 0 T 0.000000 0 transition T C T>C 0.000 -2.135 L Leu CTT 0.129 P Pro CCT 0.283 166 7 3 Macaque -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 126.59 53.19 Tolerated 0.14 III.33 bad 4.193E-5 0.03257 217 PASS . . . . . . . . . . . . . . . . 0.20386267 . . @ 95 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.017 . . 466.0 . . . . . . . . . . -1.7595 -1.899 -1.760 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.083 @ . . . 0.15 0.24 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.007 . . 0.488 . . . 0.240 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.687 . . 0 0 0 0 0 0 . 0.178 . . 0.230 . . . . . . 0 0.287 . . . . . 0.002 . 0.236 . HET 0.14 . 0.011 0.007 . . . . . . . . . . 0.2444 . . 0.728 -1.46 . 0.120000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.181 -2.181000 . . 0.120000 . . 1.0E-217 0.000 0.063 . 0.062 0.226 . 0.003 . 0.008 -2.181 0.643 0.011 . . rs112694450 rs112694450 1 1538 10 1/0 0,169,255 +rs112694450 19 55317541 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317541 55317541 Chr19(GRCh37):g.55317541T>C *53513 *53513 NM_001291695.1:c.*53513T>C p.? p.? 8 604953 53657 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs112694450 no no 0 T 0.000000 0 transition T C T>C 0.000 -2.135 217 PASS . . . . . . . . . . . . . . . . 0.20386267 . . @ 95 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.017 . . 466.0 . . . . . . . . . . -1.7595 -1.899 -1.760 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.083 @ . . . 0.15 0.24 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.007 . . 0.488 . . . 0.240 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.687 . . 0 0 0 0 0 0 . 0.178 . . 0.230 . . . . . . 0 0.287 . . . . . 0.002 . 0.236 . HET 0.14 . 0.011 0.007 . . . . . . . . . . 0.2444 . . 0.728 -1.46 . 0.120000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.181 -2.181000 . . 0.120000 . . 1.0E-217 0.000 0.063 . 0.062 0.226 . 0.003 . 0.008 -2.181 0.643 0.011 . . rs112694450 rs112694450 1 1538 10 1/0 0,169,255 +rs200435373 19 55317564 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317564 55317564 Chr19(GRCh37):g.55317564A>G 520 520 NM_001080770.1:c.520A>G p.Ile174Val p.Ile174Val 4 604945 -136 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.40228 0 Immunoglobulin Immunoglobulin subtype rs200435373 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23298 3804 4028 550 2532 1968 8622 1088 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -3.426 I Ile ATC 0.481 V Val GTC 0.240 174 7 1 3 3 4 0 0 5.II 5.IX 111 84 29 C0 151.65 0.00 Tolerated 0.83 III.33 good 8.504E-1 0.3055 217 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.005 . . 440.0 . . . . . . . . . . -2.5106 -2.515 -2.511 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.101 @ . . . 0.16 0.14 182 ENSG00000189013 . KIR2DL4 . . . 0.043 0.146 . . . . . . . Uncertain_significance . 0 . 0.002 . . . . T 0.024 0.002 . . 37 . 0.030 . . 0.373 . . . 0.003 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.010 . . . . . . . 0.048 . HET 1 . . . . . . . . . . . . . . . . 0.427 -0.854 . 1.000000 . . . . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.133 . -3.514 -3.514000 . . 1.000000 . . 1.0E-217 0.000 0.063 . 0.016 0.000 . 0.038 . 0.002 -3.514 -1.958 . . . rs78397594 rs200435373 1 1538 10 1/0 0,172,255 +rs200435373 19 55317564 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317564 55317564 Chr19(GRCh37):g.55317564A>G *53536 *53536 NM_001291695.1:c.*53536A>G p.? p.? 8 604953 53680 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200435373 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23298 3804 4028 550 2532 1968 8622 1088 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -3.426 217 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.005 . . 440.0 . . . . . . . . . . -2.5106 -2.515 -2.511 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.101 @ . . . 0.16 0.14 182 ENSG00000189013 . KIR2DL4 . . . 0.043 0.146 . . . . . . . Uncertain_significance . 0 . 0.002 . . . . T 0.024 0.002 . . 37 . 0.030 . . 0.373 . . . 0.003 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.010 . . . . . . . 0.048 . HET 1 . . . . . . . . . . . . . . . . 0.427 -0.854 . 1.000000 . . . . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.133 . -3.514 -3.514000 . . 1.000000 . . 1.0E-217 0.000 0.063 . 0.016 0.000 . 0.038 . 0.002 -3.514 -1.958 . . . rs78397594 rs200435373 1 1538 10 1/0 0,172,255 +. 19 55317584 C T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317584 55317584 Chr19(GRCh37):g.55317584C>T 540 540 NM_001080770.1:c.540C>T p.Ala180= p.Ala180Ala 4 604945 -116 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.40228 0 Immunoglobulin Immunoglobulin subtype rs954023147 no no 0 C 0.000000 0 transition C T C>T 0.000 -1.893 A Ala GCC 0.403 A Ala GCT 0.263 180 201 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.8713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +. 19 55317584 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317584 55317584 Chr19(GRCh37):g.55317584C>T *53556 *53556 NM_001291695.1:c.*53556C>T p.? p.? 8 604953 53700 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs954023147 no no 0 C 0.000000 0 transition C T C>T 0.000 -1.893 201 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.8713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +. 19 55317590 C T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317590 55317590 Chr19(GRCh37):g.55317590C>T 546 546 NM_001080770.1:c.546C>T p.Phe182= p.Phe182Phe 4 604945 -110 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.40228 0 Immunoglobulin Immunoglobulin subtype transition C T C>T 0.000 -0.682 F Phe TTC 0.546 F Phe TTT 0.454 182 191 PASS . . . . . . . . . . . . . . . . 0.1373057 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 386.0 . . . . . . . . . . -0.6549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55317590 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317590 55317590 Chr19(GRCh37):g.55317590C>T *53562 *53562 NM_001291695.1:c.*53562C>T p.? p.? 8 604953 53706 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition C T C>T 0.000 -0.682 191 PASS . . . . . . . . . . . . . . . . 0.1373057 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 386.0 . . . . . . . . . . -0.6549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55317599 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317599 55317599 Chr19(GRCh37):g.55317599T>C 555 555 NM_001080770.1:c.555T>C p.Gly185= p.Gly185Gly 4 604945 -101 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.40228 0 Immunoglobulin Immunoglobulin subtype transition T C T>C 0.000 -1.167 G Gly GGT 0.162 G Gly GGC 0.342 185 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 369.0 . . . . . . . . . . -0.6914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55317599 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317599 55317599 Chr19(GRCh37):g.55317599T>C *53571 *53571 NM_001291695.1:c.*53571T>C p.? p.? 8 604953 53715 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition T C T>C 0.000 -1.167 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 369.0 . . . . . . . . . . -0.6914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55317639 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317639 55317639 Chr19(GRCh37):g.55317639T>C 595 595 NM_001080770.1:c.595T>C p.Phe199Leu p.Phe199Leu 4 604945 -61 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.92145 0 Immunoglobulin subtype transition T C T>C 0.000 -0.279 F Phe TTC 0.546 L Leu CTC 0.197 199 7 5 Cow 1 0 0 0 0 5.II 4.IX 132 111 22 C0 104.11 0.00 Tolerated 0.33 III.33 good 6.93E-1 0.1398 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.102 . . 256.0 . . . . . . . . . . -1.2363 -1.379 -1.236 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.109 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.011 . . . . T 0.018 0.001 . . 37 . 0.009 . . 0.453 . . . 0.161 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.695 . . 0 0 0 0 0 0 . 0.295 . . 0.286 . . . . . . 0 0.210 . . . . . 0.049 . 0.434 . LowAF 0.1 . . . . . . . . . . . . . II.24 . . 0.728 -0.617 . 0.220000 . . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.296 -0.296000 . . 0.220000 . . 1.0E-178 0.000 0.063 . 0.016 0.001 . 0.010 . 0.017 -0.296 -0.090 . . . . . 1 1538 10 1/0 0,187,255 +. 19 55317639 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317639 55317639 Chr19(GRCh37):g.55317639T>C *53611 *53611 NM_001291695.1:c.*53611T>C p.? p.? 8 604953 53755 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition T C T>C 0.000 -0.279 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.102 . . 256.0 . . . . . . . . . . -1.2363 -1.379 -1.236 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.109 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.011 . . . . T 0.018 0.001 . . 37 . 0.009 . . 0.453 . . . 0.161 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.695 . . 0 0 0 0 0 0 . 0.295 . . 0.286 . . . . . . 0 0.210 . . . . . 0.049 . 0.434 . LowAF 0.1 . . . . . . . . . . . . . II.24 . . 0.728 -0.617 . 0.220000 . . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.296 -0.296000 . . 0.220000 . . 1.0E-178 0.000 0.063 . 0.016 0.001 . 0.010 . 0.017 -0.296 -0.090 . . . . . 1 1538 10 1/0 0,187,255 +rs796499070 19 55320387 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320387 55320387 Chr19(GRCh37):g.55320387A>T 706+49 706+49 NM_001080770.1:c.706+49A>T p.? p.? 5 5 604945 49 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.53308 0 rs796499070 no no 0 A 0.000000 0 transversion A T A>T 0.000 0.448 235 PASS . . . . . . . . . . . . . . . . 0.25700936 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 214.0 . . . . . . . . . . -0.3338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +rs796499070 19 55320387 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320387 55320387 Chr19(GRCh37):g.55320387A>T *56359 *56359 NM_001291695.1:c.*56359A>T p.? p.? 8 604953 56503 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796499070 no no 0 A 0.000000 0 transversion A T A>T 0.000 0.448 235 PASS . . . . . . . . . . . . . . . . 0.25700936 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 214.0 . . . . . . . . . . -0.3338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +rs796605254 19 55320389 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320389 55320389 Chr19(GRCh37):g.55320389A>G 706+51 706+51 NM_001080770.1:c.706+51A>G p.? p.? 5 5 604945 51 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.66045 0 Cryptic Donor Strongly Activated 55320384 IV.35 0.156243 69.3842 8.23527 0.722425 81.5358 rs796605254 no no 0 A 0.000000 0 transition A G A>G 0.004 0.448 232 PASS . . . . . . . . . . . . . . . . 0.24892704 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . . . . . . . . -0.2589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +rs796605254 19 55320389 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320389 55320389 Chr19(GRCh37):g.55320389A>G *56361 *56361 NM_001291695.1:c.*56361A>G p.? p.? 8 604953 56505 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55320384 IV.35 0.156243 69.3842 8.23527 0.722425 81.5358 rs796605254 no no 0 A 0.000000 0 transition A G A>G 0.004 0.448 232 PASS . . . . . . . . . . . . . . . . 0.24892704 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . . . . . . . . -0.2589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +rs796235267 19 55320390 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320390 55320390 Chr19(GRCh37):g.55320390A>T 706+52 706+52 NM_001080770.1:c.706+52A>T p.? p.? 5 5 604945 52 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.56573 0 Cryptic Donor Strongly Activated 55320384 IV.35 0.156243 69.3842 6.03712 0.703691 74.7131 rs796235267 no no 0 A 0.000000 0 transversion A T A>T 0.000 -1.974 233 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 220.0 . . . . . . . . . . -0.8427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,206,255 +rs796235267 19 55320390 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320390 55320390 Chr19(GRCh37):g.55320390A>T *56362 *56362 NM_001291695.1:c.*56362A>T p.? p.? 8 604953 56506 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55320384 IV.35 0.156243 69.3842 6.03712 0.703691 74.7131 rs796235267 no no 0 A 0.000000 0 transversion A T A>T 0.000 -1.974 233 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 220.0 . . . . . . . . . . -0.8427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,206,255 +rs796340056 19 55320391 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320391 55320391 Chr19(GRCh37):g.55320391G>A 706+53 706+53 NM_001080770.1:c.706+53G>A p.? p.? 5 5 604945 53 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.18141 0 rs796340056 no no 0 G 0.000000 0 transition G A G>A 0.000 0.609 235 PASS . . . . . . . . . . . . . . . . 0.25791857 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 221.0 . . . . . . . . . . -0.2428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs796340056 19 55320391 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320391 55320391 Chr19(GRCh37):g.55320391G>A *56363 *56363 NM_001291695.1:c.*56363G>A p.? p.? 8 604953 56507 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796340056 no no 0 G 0.000000 0 transition G A G>A 0.000 0.609 235 PASS . . . . . . . . . . . . . . . . 0.25791857 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 221.0 . . . . . . . . . . -0.2428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs796561818 19 55320392 C T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320392 55320392 Chr19(GRCh37):g.55320392C>T 706+54 706+54 NM_001080770.1:c.706+54C>T p.? p.? 5 5 604945 54 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.35665 0 rs796561818 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 224.0 . . . . . . . . . . -0.3693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +rs796561818 19 55320392 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320392 55320392 Chr19(GRCh37):g.55320392C>T *56364 *56364 NM_001291695.1:c.*56364C>T p.? p.? 8 604953 56508 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796561818 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 224.0 . . . . . . . . . . -0.3693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +rs796187875 19 55320406 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320406 55320406 Chr19(GRCh37):g.55320406G>A 706+68 706+68 NM_001080770.1:c.706+68G>A p.? p.? 5 5 604945 68 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.79681 0 rs796187875 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.360 249 PASS . . . . . . . . . . . . . . . . 0.30088496 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.3956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +rs796187875 19 55320406 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320406 55320406 Chr19(GRCh37):g.55320406G>A *56378 *56378 NM_001291695.1:c.*56378G>A p.? p.? 8 604953 56522 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796187875 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.360 249 PASS . . . . . . . . . . . . . . . . 0.30088496 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.3956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 19 55320421 G C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320421 55320421 Chr19(GRCh37):g.55320421G>C 706+83 706+83 NM_001080770.1:c.706+83G>C p.? p.? 5 5 604945 83 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs972228599 no no 0 G 0.000000 0 transversion G C G>C 0.004 -1.247 251 PASS . . . . . . . . . . . . . . . . 0.30941704 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 223.0 . . . . . . . . . . -0.4686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.3 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs78024382 rs78024382 1 1538 10 1/0 0,211,255 +. 19 55320421 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320421 55320421 Chr19(GRCh37):g.55320421G>C *56393 *56393 NM_001291695.1:c.*56393G>C p.? p.? 8 604953 56537 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs972228599 no no 0 G 0.000000 0 transversion G C G>C 0.004 -1.247 251 PASS . . . . . . . . . . . . . . . . 0.30941704 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 223.0 . . . . . . . . . . -0.4686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.3 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs78024382 rs78024382 1 1538 10 1/0 0,211,255 +rs796407958 19 55320450 C T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320450 55320450 Chr19(GRCh37):g.55320450C>T 706+112 706+112 NM_001080770.1:c.706+112C>T p.? p.? 5 5 604945 112 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796407958 no no 0 C 0.000000 0 transition C T C>T 0.000 -0.360 231 PASS . . . . . . . . . . . . . . . . 0.24431819 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . -0.4995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs796407958 19 55320450 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320450 55320450 Chr19(GRCh37):g.55320450C>T *56422 *56422 NM_001291695.1:c.*56422C>T p.? p.? 8 604953 56566 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796407958 no no 0 C 0.000000 0 transition C T C>T 0.000 -0.360 231 PASS . . . . . . . . . . . . . . . . 0.24431819 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . -0.4995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs796993008 19 55320452 T A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320452 55320452 Chr19(GRCh37):g.55320452T>A 706+114 706+114 NM_001080770.1:c.706+114T>A p.? p.? 5 5 604945 114 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796993008 no no 0 T 0.000000 0 transversion T A T>A 0.000 -0.198 234 PASS . . . . . . . . . . . . . . . . 0.2559524 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 168.0 . . . . . . . . . . -0.5121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs796993008 19 55320452 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320452 55320452 Chr19(GRCh37):g.55320452T>A *56424 *56424 NM_001291695.1:c.*56424T>A p.? p.? 8 604953 56568 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796993008 no no 0 T 0.000000 0 transversion T A T>A 0.000 -0.198 234 PASS . . . . . . . . . . . . . . . . 0.2559524 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 168.0 . . . . . . . . . . -0.5121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs796685694 19 55320453 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320453 55320453 Chr19(GRCh37):g.55320453T>C 706+115 706+115 NM_001080770.1:c.706+115T>C p.? p.? 5 5 604945 115 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796685694 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.252809 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . . . . . . . . . -0.3701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs796685694 19 55320453 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320453 55320453 Chr19(GRCh37):g.55320453T>C *56425 *56425 NM_001291695.1:c.*56425T>C p.? p.? 8 604953 56569 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796685694 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.252809 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . . . . . . . . . -0.3701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs796136152 19 55320454 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320454 55320454 Chr19(GRCh37):g.55320454G>A 706+116 706+116 NM_001080770.1:c.706+116G>A p.? p.? 5 5 604945 116 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796136152 no no 0 G 0.000000 0 transition G A G>A 0.000 -1.167 229 PASS . . . . . . . . . . . . . . . . 0.24022347 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . -0.5602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs796136152 19 55320454 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320454 55320454 Chr19(GRCh37):g.55320454G>A *56426 *56426 NM_001291695.1:c.*56426G>A p.? p.? 8 604953 56570 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796136152 no no 0 G 0.000000 0 transition G A G>A 0.000 -1.167 229 PASS . . . . . . . . . . . . . . . . 0.24022347 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . -0.5602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs796362882 19 55320462 A C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320462 55320462 Chr19(GRCh37):g.55320462A>C 706+124 706+124 NM_001080770.1:c.706+124A>C p.? p.? 5 5 604945 124 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 Cryptic Acceptor Strongly Activated 55320469 6.17216 0.20298 77.77 8.34807 0.478644 81.1848 rs796362882 no no 0 A 0.000000 0 transversion A C A>C 0.012 -0.521 243 PASS . . . . . . . . . . . . . . . . 0.28402367 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . -0.3868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs796362882 19 55320462 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320462 55320462 Chr19(GRCh37):g.55320462A>C *56434 *56434 NM_001291695.1:c.*56434A>C p.? p.? 8 604953 56578 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55320469 6.17216 0.20298 77.77 8.34807 0.478644 81.1848 rs796362882 no no 0 A 0.000000 0 transversion A C A>C 0.012 -0.521 243 PASS . . . . . . . . . . . . . . . . 0.28402367 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . -0.3868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs796944382 19 55320474 C A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320474 55320474 Chr19(GRCh37):g.55320474C>A 706+136 706+136 NM_001080770.1:c.706+136C>A p.? p.? 5 5 604945 136 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796944382 no no 0 C 0.000000 0 transversion C A C>A 0.000 -0.360 235 PASS . . . . . . . . . . . . . . . . 0.25675675 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . . . . . . . . . -0.3985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +rs796944382 19 55320474 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320474 55320474 Chr19(GRCh37):g.55320474C>A *56446 *56446 NM_001291695.1:c.*56446C>A p.? p.? 8 604953 56590 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796944382 no no 0 C 0.000000 0 transversion C A C>A 0.000 -0.360 235 PASS . . . . . . . . . . . . . . . . 0.25675675 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . . . . . . . . . -0.3985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 19 55324674 C CA - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 duplication intron GRCh37 55324683 55324684 Chr19(GRCh37):g.55324683dup 707-462 707-462 NM_001080770.1:c.707-462dup p.? p.? 6 5 604945 -461 3' 84.4733 XI.63 0.941104 13.1132 84.4733 XI.63 0.941104 13.1132 0 New Donor Site 55324684 7.30895 0.991868 81.7787 rs11371265 no no 0 0.000000 0 COSM5445945|COSM5713363 Thyroid|Central nervous system 0.004016|0.001663 747|2405 A 255 Pass . . . . . . . . . . . . . KIR2DL4:NM_001080772:exon6:c.802dupA:p.S267fs . . 0.5588235 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs11371265 rs11371265 rs11371265 1 1538 10 1.I 0,12,25 +. 19 55324674 C CA - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 duplication downstream GRCh37 55324683 55324684 Chr19(GRCh37):g.55324683dup *60655 *60655 NM_001291695.1:c.*60655dup p.? p.? 8 604953 60799 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 New Donor Site 55324684 7.30895 0.991868 81.7787 rs11371265 no no 0 0.000000 0 COSM5445945|COSM5713363 Thyroid|Central nervous system 0.004016|0.001663 747|2405 A 255 Pass . . . . . . . . . . . . . KIR2DL4:NM_001080772:exon6:c.802dupA:p.S267fs . . 0.5588235 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs11371265 rs11371265 rs11371265 1 1538 10 1.I 0,12,25 +. 19 55325240 G C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55325240 55325240 Chr19(GRCh37):g.55325240G>C 759+43 759+43 NM_001080770.1:c.759+43G>C p.? p.? 6 6 604945 43 5' 86.8647 IX.15 0.964809 6.92518 86.8647 IX.15 0.964809 7.256 0 Cryptic Acceptor Strongly Activated 55325247 4.68948 0.021206 69.5548 5.81428 0.094573 73.2979 rs34348532 no no 0 0.000000 0 0.000006 0.000095 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 1 1 0 0 0 0 0 0 0 175402 10530 17432 6482 6878 18468 93090 18134 4388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.6995516 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 223.0 . . . . . . . . . . -0.5277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.38 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 5.672e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs653140 rs653140 rs147788756 rs147788756 1 1538 10 1/0 0,229,227 +. 19 55325240 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55325240 55325240 Chr19(GRCh37):g.55325240G>C *61212 *61212 NM_001291695.1:c.*61212G>C p.? p.? 8 604953 61356 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55325247 4.68948 0.021206 69.5548 5.81428 0.094573 73.2979 rs34348532 no no 0 0.000000 0 0.000006 0.000095 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 1 1 0 0 0 0 0 0 0 175402 10530 17432 6482 6878 18468 93090 18134 4388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.6995516 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 223.0 . . . . . . . . . . -0.5277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.38 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 5.672e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs653140 rs653140 rs147788756 rs147788756 1 1538 10 1/0 0,229,227 +rs653142 19 55325241 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55325241 55325241 Chr19(GRCh37):g.55325241A>T 759+44 759+44 NM_001080770.1:c.759+44A>T p.? p.? 6 6 604945 44 5' 86.8647 IX.15 0.964809 6.92518 86.8647 IX.15 0.964809 7.07786 0 Cryptic Acceptor Strongly Activated 55325247 4.68948 0.021206 69.5548 5.0304 0.306517 75.5478 rs653142 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 175696 10612 17442 6482 6890 18468 93238 18166 4398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.6891892 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . -0.6726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.36 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs653142 rs653142 rs143418680 rs143418680 1 1538 10 1/0 0,231,230 +rs653142 19 55325241 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55325241 55325241 Chr19(GRCh37):g.55325241A>T *61213 *61213 NM_001291695.1:c.*61213A>T p.? p.? 8 604953 61357 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55325247 4.68948 0.021206 69.5548 5.0304 0.306517 75.5478 rs653142 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 175696 10612 17442 6482 6890 18468 93238 18166 4398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.6891892 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . -0.6726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.36 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs653142 rs653142 rs143418680 rs143418680 1 1538 10 1/0 0,231,230 +rs598375 19 55328084 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55328084 55328084 Chr19(GRCh37):g.55328084A>G *64056 *64056 NM_001291695.1:c.*64056A>G p.? p.? 8 604953 64200 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs598375 yes no Frequency/1000G 2 G 0.000000 0 0.351637 0.433400 0.234200 0.556500 0.174000 0.321300 0.001771 0.003253 0.000000 0.006667 0.002242 0.000000 0.001325 0.001597 0.002183 0.006667 23 7 0 1 1 0 10 3 1 12988 2152 358 150 446 0 7546 1878 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 0 1 1 0 10 3 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . 0.43 0.35 0.32 0.56 0.17 0.23 . . . . . 0.61463416 . . @ 126 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 205.0 . . . . . . . . . . -0.6405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3516 . . . 0.27 0.19 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . 0.467 0.478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0018 0 0.0067 0.0022 0.0016 0.0013 0.0022 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 rs598375 rs598375 rs598375 rs142454309 1 1538 10 1/0 0,241,253 +rs598375 19 55328084 A G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55328084 55328084 Chr19(GRCh37):g.55328084A>G 34+95 34+95 NM_001322168.1:c.34+95A>G p.? p.? 1 1 604946 95 5' 82.9985 9.27414 0.977682 9.74286 82.9985 9.27414 0.977682 9.74286 0 rs598375 yes no Frequency/1000G 2 G 0.000000 0 0.351637 0.433400 0.234200 0.556500 0.174000 0.321300 0.001771 0.003253 0.000000 0.006667 0.002242 0.000000 0.001325 0.001597 0.002183 0.006667 23 7 0 1 1 0 10 3 1 12988 2152 358 150 446 0 7546 1878 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 0 1 1 0 10 3 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . 0.43 0.35 0.32 0.56 0.17 0.23 . . . . . 0.61463416 . . @ 126 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 205.0 . . . . . . . . . . -0.6405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3516 . . . 0.27 0.19 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . 0.467 0.478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0018 0 0.0067 0.0022 0.0016 0.0013 0.0022 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 rs598375 rs598375 rs598375 rs142454309 1 1538 10 1/0 0,241,253 +rs612235 19 55328919 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55328919 55328919 Chr19(GRCh37):g.55328919G>A *64891 *64891 NM_001291695.1:c.*64891G>A p.? p.? 8 604953 65035 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs612235 no no 0 A 0.000000 0 transition G A G>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.6554622 . . @ 234 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 357.0 . . . . . . . . . . -0.3190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.1 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . 0.141 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs612235 rs612235 rs612235 rs138071621 1 1538 10 1/0 0,209,209 +rs612235 19 55328919 G A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55328919 55328919 Chr19(GRCh37):g.55328919G>A 35-70 35-70 NM_001322168.1:c.35-70G>A p.? p.? 2 1 604946 -70 3' 90.7686 X.12 0.995541 6.09746 90.7686 X.12 0.995541 5.95252 0 rs612235 no no 0 A 0.000000 0 transition G A G>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.6554622 . . @ 234 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 357.0 . . . . . . . . . . -0.3190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.1 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . 0.141 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs612235 rs612235 rs612235 rs138071621 1 1538 10 1/0 0,209,209 +. 19 55329934 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55329934 55329934 Chr19(GRCh37):g.55329934A>G *65906 *65906 NM_001291695.1:c.*65906A>G p.? p.? 8 604953 66050 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000004 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 1 0 1 0 0 0 0 0 0 228178 15084 31148 8942 16450 26834 105110 19488 5122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 76 Exomes transition A G A>G 0.000 -2.297 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon3:c.A235G:p.S79G . . 0.6335878 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.079 . . 131.0 . . . . . . . . . . -1.3702 -1.605 -1.370 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.128 . . exonic exonic exonic . . 0.060 @ . . . 0.05 0.15 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.055 . 433 0.006664 64976 433 0.00721835 59986 Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.140 . . 0.029 . . . 0.694 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.537 . . 0 0 0 0 0 0 . 0.458 . . 0.399 . . . . . . 3 0.408 . . . . . 0.077 . 0.121 . HET 0.05 . 0.141 0.225 . . . . . . . . . . III.85 . . I.25 -2.51 . 0.010000 . . . . . . 0.010 . . . 0 4.383e-06 3.21e-05 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -2.303 -2.303000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.068 . 0.058 -2.303 -2.019 0.14 rs62124092 rs62124092 rs62124092 rs62124092 1 1538 10 1/0 0,255,255 +. 19 55329934 A G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55329934 55329934 Chr19(GRCh37):g.55329934A>G 235 235 NM_001322168.1:c.235A>G p.Ser79Gly p.Ser79Gly 3 604946 -121 5' 84.7886 7.40564 0.793383 6.70497 84.7886 7.40564 0.793383 6.70497 0 0.000004 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 1 0 1 0 0 0 0 0 0 228178 15084 31148 8942 16450 26834 105110 19488 5122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 76 Exomes transition A G A>G 0.000 -2.297 S Ser AGC 0.243 G Gly GGC 0.342 79 11 6 Pig 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 135.81 29.38 Tolerated 0.2 II.84 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon3:c.A235G:p.S79G . . 0.6335878 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.079 . . 131.0 . . . . . . . . . . -1.3702 -1.605 -1.370 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.128 . . exonic exonic exonic . . 0.060 @ . . . 0.05 0.15 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.055 . 433 0.006664 64976 433 0.00721835 59986 Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.140 . . 0.029 . . . 0.694 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.537 . . 0 0 0 0 0 0 . 0.458 . . 0.399 . . . . . . 3 0.408 . . . . . 0.077 . 0.121 . HET 0.05 . 0.141 0.225 . . . . . . . . . . III.85 . . I.25 -2.51 . 0.010000 . . . . . . 0.010 . . . 0 4.383e-06 3.21e-05 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -2.303 -2.303000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.068 . 0.058 -2.303 -2.019 0.14 rs62124092 rs62124092 rs62124092 rs62124092 1 1538 10 1/0 0,255,255 +rs652641 19 55331287 G T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55331287 55331287 Chr19(GRCh37):g.55331287G>T *67259 *67259 NM_001291695.1:c.*67259G>T p.? p.? 8 604953 67403 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55331285 1.95308 0.050219 74.304 2.91051 0.072434 74.304 rs652641 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 231150 15132 31376 9000 16524 27012 106232 20710 5164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes transversion G T G>T 0.016 1.093 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.G475T:p.G159W . . 0.54103345 . . @ 178 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.283 . @ . . . . . 1 0.393 . . 329.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Tgg|G159W|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -0.3609 -0.646 -0.361 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.013 . . exonic exonic exonic . . 0.215 @ . . . 0.17 0.23 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.012 . . . . T 0.024 0.002 . . 37 . 0.132 . . 0.170 . . . 0.930 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.789 . . 0 0 0 0 0 0 . 0.424 . . 0.590 . . . . . . 0 0.501 . . . . . 0.204 . 0.491 . HET 0.04 . 0.141 0.188 . . . . . . . . . . VI.94 . . I.44 I.44 . 0.030000 . . . . . . 0.062 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . 1.138 1.138000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.043 0.018 . 0.189 . 0.272 1.138 0.589 0.14 rs652641 rs652641 rs652641 rs139070113 1 1538 10 1/0 0,208,217 +rs652641 19 55331287 G T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55331287 55331287 Chr19(GRCh37):g.55331287G>T 475 475 NM_001322168.1:c.475G>T p.Gly159Trp p.Gly159Trp 4 604946 120 3' 87.7416 X.34 0.946917 XI.46 87.7416 X.34 0.946917 XI.46 0 Cryptic Acceptor Strongly Activated 55331285 1.95308 0.050219 74.304 2.91051 0.072434 74.304 rs652641 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 231150 15132 31376 9000 16524 27012 106232 20710 5164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes transversion G T G>T 0.016 1.093 G Gly GGG 0.250 W Trp TGG 1.000 159 11 4 Horse -2 -2 -6 0.74 0.13 9 5.IV 3 170 184 C0 353.86 0.00 Deleterious 0.02 III.18 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.G475T:p.G159W . . 0.54103345 . . @ 178 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.283 . @ . . . . . 1 0.393 . . 329.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Tgg|G159W|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -0.3609 -0.646 -0.361 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.013 . . exonic exonic exonic . . 0.215 @ . . . 0.17 0.23 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.012 . . . . T 0.024 0.002 . . 37 . 0.132 . . 0.170 . . . 0.930 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.789 . . 0 0 0 0 0 0 . 0.424 . . 0.590 . . . . . . 0 0.501 . . . . . 0.204 . 0.491 . HET 0.04 . 0.141 0.188 . . . . . . . . . . VI.94 . . I.44 I.44 . 0.030000 . . . . . . 0.062 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . 1.138 1.138000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.043 0.018 . 0.189 . 0.272 1.138 0.589 0.14 rs652641 rs652641 rs652641 rs139070113 1 1538 10 1/0 0,208,217 +rs652741 19 55331362 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55331362 55331362 Chr19(GRCh37):g.55331362C>T *67334 *67334 NM_001291695.1:c.*67334C>T p.? p.? 8 604953 67478 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs652741 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 231302 15142 31388 9000 16542 27004 106328 20740 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 69 Exomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.C550T:p.P184S . . 0.57881135 . . @ 224 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.374 . . 387.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P184S|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -0.9933 -1.223 -0.993 c . . . . . 1.638e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.090 @ . . . 0.09 0.16 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.127 . . . . T 0.019 0.001 . . 37 . 0.050 . . 0.322 . . . 0.383 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.844 . . 0 0 0 0 0 0 . 0.539 . . 0.504 . . . . . . 0 0.193 . . . . . 0.032 . 0.068 . HET 0.27 . 0.141 0.188 . . . . . . . . . . 2.0082 . . I.44 -1.19 . 0.540000 . . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.214 -0.214000 . . 0.540000 . . 1.0E-255 0.000 0.063 . 0.016 0.032 . 0.009 . 0.040 -0.214 0.567 0.14 rs652741 rs652741 rs652741 rs201739958 1 1538 10 1/0 0,205,213 +rs652741 19 55331362 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55331362 55331362 Chr19(GRCh37):g.55331362C>T 550 550 NM_001322168.1:c.550C>T p.Pro184Ser p.Pro184Ser 4 604946 -106 5' 90.3087 9.21919 0.939398 7.85701 90.3087 9.21919 0.939398 7.85701 0 rs652741 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 231302 15142 31388 9000 16542 27004 106328 20740 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 69 Exomes transition C T C>T 0.000 -0.198 P Pro CCC 0.328 S Ser TCC 0.220 184 11 8 Armadillo -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.29 II.90 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.C550T:p.P184S . . 0.57881135 . . @ 224 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.374 . . 387.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P184S|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -0.9933 -1.223 -0.993 c . . . . . 1.638e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.090 @ . . . 0.09 0.16 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.127 . . . . T 0.019 0.001 . . 37 . 0.050 . . 0.322 . . . 0.383 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.844 . . 0 0 0 0 0 0 . 0.539 . . 0.504 . . . . . . 0 0.193 . . . . . 0.032 . 0.068 . HET 0.27 . 0.141 0.188 . . . . . . . . . . 2.0082 . . I.44 -1.19 . 0.540000 . . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.214 -0.214000 . . 0.540000 . . 1.0E-255 0.000 0.063 . 0.016 0.032 . 0.009 . 0.040 -0.214 0.567 0.14 rs652741 rs652741 rs652741 rs201739958 1 1538 10 1/0 0,205,213 +rs660405 19 55331372 T G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55331372 55331372 Chr19(GRCh37):g.55331372T>G *67344 *67344 NM_001291695.1:c.*67344T>G p.? p.? 8 604953 67488 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs660405 no no 0 G 0.000000 0 transversion T G T>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.T560G:p.L187R . . 0.59102905 . . @ 224 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.027 . . 379.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cGt|L187R|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -1.7706 -1.834 -1.771 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.031 . . exonic exonic exonic . . 0.053 @ . . . 0.19 0.2 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.015 . . . . T 0.016 0.001 . . 37 . 0.019 . . 0.413 . . . 0.039 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.031 . . 0 0 0 0 0 0 . 0.165 . . 0.205 . . . . . . 0 0.136 . . . . . 0.049 . 0.243 . HET 0.21 . 0.141 0.188 . . . . . . . . . . II.11 . . I.44 -2.88 . 0.390000 . . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.722 -0.722000 . . 0.390000 . . 1.0E-255 0.000 0.063 . 0.016 0.028 . 0.085 . 0.038 -0.722 -1.111 0.14 rs660405 rs660405 rs660405 rs199663346 1 1538 10 1/0 0,208,216 +rs660405 19 55331372 T G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55331372 55331372 Chr19(GRCh37):g.55331372T>G 560 560 NM_001322168.1:c.560T>G p.Leu187Arg p.Leu187Arg 4 604946 -96 5' 90.3087 9.21919 0.939398 7.85701 90.3087 9.21919 0.939398 7.85701 0 rs660405 no no 0 G 0.000000 0 transversion T G T>G 0.000 -0.682 L Leu CTT 0.129 R Arg CGT 0.082 187 11 1 -2 -2 -4 0 0.65 4.IX 10.V 111 124 102 C0 353.86 0.00 Tolerated 0.52 II.90 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.T560G:p.L187R . . 0.59102905 . . @ 224 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.027 . . 379.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cGt|L187R|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -1.7706 -1.834 -1.771 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.031 . . exonic exonic exonic . . 0.053 @ . . . 0.19 0.2 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.015 . . . . T 0.016 0.001 . . 37 . 0.019 . . 0.413 . . . 0.039 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.031 . . 0 0 0 0 0 0 . 0.165 . . 0.205 . . . . . . 0 0.136 . . . . . 0.049 . 0.243 . HET 0.21 . 0.141 0.188 . . . . . . . . . . II.11 . . I.44 -2.88 . 0.390000 . . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.722 -0.722000 . . 0.390000 . . 1.0E-255 0.000 0.063 . 0.016 0.028 . 0.085 . 0.038 -0.722 -1.111 0.14 rs660405 rs660405 rs660405 rs199663346 1 1538 10 1/0 0,208,216 +rs62124130 19 55336600 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55336600 55336600 Chr19(GRCh37):g.55336600T>C *72572 *72572 NM_001291695.1:c.*72572T>C p.? p.? 8 604953 72716 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62124130 no no 0 C 0.000000 0 transition T C T>C 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . INTRON(MODIFIER||||KIR3DL1|mRNA|CODING|NM_013289|) . . . . . . . -0.5404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.13 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2295804 rs2295804 rs2295804 rs144355656 1 1538 10 1/0 0,248,255 +rs62124130 19 55336600 T C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55336600 55336600 Chr19(GRCh37):g.55336600T>C 1000+67 1000+67 NM_001322168.1:c.1000+67T>C p.? p.? 6 6 604946 67 5' 87.1266 10.0978 0.986775 8.40848 87.1266 10.0978 0.986775 VIII.53 0 rs62124130 no no 0 C 0.000000 0 transition T C T>C 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . INTRON(MODIFIER||||KIR3DL1|mRNA|CODING|NM_013289|) . . . . . . . -0.5404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.13 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2295804 rs2295804 rs2295804 rs144355656 1 1538 10 1/0 0,248,255 +rs202227755 19 55340711 G T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340711 55340711 Chr19(GRCh37):g.55340711G>T *76683 *76683 NM_001291695.1:c.*76683G>T p.? p.? 8 604953 76827 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55340716 0.742499 0.001062 71.7578 2.594 0.017682 78.0748 rs202227755 no no 0 T 0.000000 0 transversion G T G>T 0.004 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.7053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.32 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs202227755 rs202227755 1 1538 10 1/0 0,255,255 +rs202227755 19 55340711 G T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340711 55340711 Chr19(GRCh37):g.55340711G>T 1001-105 1001-105 NM_001322168.1:c.1001-105G>T p.? p.? 7 6 604946 -105 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 12.0542 0 Cryptic Acceptor Strongly Activated 55340716 0.742499 0.001062 71.7578 2.594 0.017682 78.0748 rs202227755 no no 0 T 0.000000 0 transversion G T G>T 0.004 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.7053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.32 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs202227755 rs202227755 1 1538 10 1/0 0,255,255 +rs200439991 19 55340719 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340719 55340719 Chr19(GRCh37):g.55340719T>C *76691 *76691 NM_001291695.1:c.*76691T>C p.? p.? 8 604953 76835 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200439991 no no 0 C 0.000000 0 transition T C T>C 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.33898306 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.6652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.29 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200439991 rs200439991 1 1538 10 1/0 0,255,255 +rs200439991 19 55340719 T C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340719 55340719 Chr19(GRCh37):g.55340719T>C 1001-97 1001-97 NM_001322168.1:c.1001-97T>C p.? p.? 7 6 604946 -97 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 12.0542 0 rs200439991 no no 0 C 0.000000 0 transition T C T>C 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.33898306 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.6652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.29 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200439991 rs200439991 1 1538 10 1/0 0,255,255 +rs201295974 19 55340726 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340726 55340726 Chr19(GRCh37):g.55340726A>T *76698 *76698 NM_001291695.1:c.*76698A>T p.? p.? 8 604953 76842 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs201295974 no no 0 T 0.000000 0 transversion A T A>T 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.3275862 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.7353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.27 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201295974 rs201295974 1 1538 10 1/0 0,255,255 +rs201295974 19 55340726 A T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340726 55340726 Chr19(GRCh37):g.55340726A>T 1001-90 1001-90 NM_001322168.1:c.1001-90A>T p.? p.? 7 6 604946 -90 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 12.0542 0 55340726 -63.8262 rs201295974 no no 0 T 0.000000 0 transversion A T A>T 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.3275862 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.7353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.27 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201295974 rs201295974 1 1538 10 1/0 0,255,255 +rs181552103 19 55340739 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340739 55340739 Chr19(GRCh37):g.55340739C>G *76711 *76711 NM_001291695.1:c.*76711C>G p.? p.? 8 604953 76855 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs181552103 no no 0 G 0.000000 0 transversion C G C>G 0.012 0.448 245 PASS . . . . . . . . . . . . . . . . 0.29310346 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.3138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.22 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . rs181552103 rs181552103 1 1538 10 1/0 0,255,255 +rs181552103 19 55340739 C G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340739 55340739 Chr19(GRCh37):g.55340739C>G 1001-77 1001-77 NM_001322168.1:c.1001-77C>G p.? p.? 7 6 604946 -77 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 XII.63 0 rs181552103 no no 0 G 0.000000 0 transversion C G C>G 0.012 0.448 245 PASS . . . . . . . . . . . . . . . . 0.29310346 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.3138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.22 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . rs181552103 rs181552103 1 1538 10 1/0 0,255,255 +rs368157438 19 55340766 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340766 55340766 Chr19(GRCh37):g.55340766T>A *76738 *76738 NM_001291695.1:c.*76738T>A p.? p.? 8 604953 76882 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs368157438 yes no Frequency 1 A 0.000000 0 0.000027 0.000269 0.000033 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000269 6 4 1 0 0 0 1 0 0 223500 14880 30710 8886 16392 26700 104776 16090 5066 0.166667 0.250000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 4 2 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transversion T A T>A 0.000 -2.700 237 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . -0.9759 . . . . . . . . 6.588e-05 . . . 0.0003 4.748e-05 9.235e-05 0 0 0 0 0 0.0003 4.035e-05 9.517e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 2.685e-05 3.256e-05 0 0 0 9.544e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs368157438 rs368157438 1 1538 10 1/0 0,255,255 +rs368157438 19 55340766 T A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340766 55340766 Chr19(GRCh37):g.55340766T>A 1001-50 1001-50 NM_001322168.1:c.1001-50T>A p.? p.? 7 6 604946 -50 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 XI.56 0 55340765 -5.96791 rs368157438 yes no Frequency 1 A 0.000000 0 0.000027 0.000269 0.000033 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000269 6 4 1 0 0 0 1 0 0 223500 14880 30710 8886 16392 26700 104776 16090 5066 0.166667 0.250000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 4 2 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transversion T A T>A 0.000 -2.700 237 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . -0.9759 . . . . . . . . 6.588e-05 . . . 0.0003 4.748e-05 9.235e-05 0 0 0 0 0 0.0003 4.035e-05 9.517e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 2.685e-05 3.256e-05 0 0 0 9.544e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs368157438 rs368157438 1 1538 10 1/0 0,255,255 +rs201565562 19 55340771 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340771 55340771 Chr19(GRCh37):g.55340771A>G *76743 *76743 NM_001291695.1:c.*76743A>G p.? p.? 8 604953 76887 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs201565562 yes no Frequency/1000G 2 G 0.000000 0 0.005990 0.002300 0.015300 0.004000 0.006000 0.002900 0.000031 0.000336 0.000032 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000336 7 5 1 0 0 0 1 0 0 224366 14888 30820 8912 16416 26764 105060 16440 5066 0.142857 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 5 3 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transition A G A>G 0.000 -3.830 220 PASS . 0.01 0.01 0.0035 0.01 0.0023 0.006 0.0029 0.004 0.006 0.015 . . . . . 0.21428572 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -1.1633 . . . . . . . . 7.411e-05 . . . 0.0004 5.934e-05 9.237e-05 0 0 0 0 0 0.0005 5.044e-05 9.518e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.2 0.26 182 ENSG00000167633 . KIR3DL1 . . . . . . 11 0.000169293 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 3.12e-05 3.245e-05 0 0 0 9.518e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.01 . . rs201565562 rs201565562 1 1538 10 1/0 0,255,255 +rs201565562 19 55340771 A G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340771 55340771 Chr19(GRCh37):g.55340771A>G 1001-45 1001-45 NM_001322168.1:c.1001-45A>G p.? p.? 7 6 604946 -45 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 12.1553 0 rs201565562 yes no Frequency/1000G 2 G 0.000000 0 0.005990 0.002300 0.015300 0.004000 0.006000 0.002900 0.000031 0.000336 0.000032 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000336 7 5 1 0 0 0 1 0 0 224366 14888 30820 8912 16416 26764 105060 16440 5066 0.142857 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 5 3 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transition A G A>G 0.000 -3.830 220 PASS . 0.01 0.01 0.0035 0.01 0.0023 0.006 0.0029 0.004 0.006 0.015 . . . . . 0.21428572 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -1.1633 . . . . . . . . 7.411e-05 . . . 0.0004 5.934e-05 9.237e-05 0 0 0 0 0 0.0005 5.044e-05 9.518e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.2 0.26 182 ENSG00000167633 . KIR3DL1 . . . . . . 11 0.000169293 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 3.12e-05 3.245e-05 0 0 0 9.518e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.01 . . rs201565562 rs201565562 1 1538 10 1/0 0,255,255 +rs45458503 19 55340794 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340794 55340794 Chr19(GRCh37):g.55340794C>T *76766 *76766 NM_001291695.1:c.*76766C>T p.? p.? 8 604953 76910 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs45458503 yes no Frequency/1000G 2 T 0.000000 0 0.009185 0.014400 0.015300 0.004000 0.006000 0.002900 0.001186 0.010468 0.000908 0.000000 0.000000 0.000186 0.000218 0.000000 0.000000 0.010468 303 243 29 0 0 5 26 0 0 255490 23214 31946 9234 17992 26914 119440 20710 6040 0.000376 0.002929 0.000501 0.000000 0.000000 0.000000 0.000100 0.000000 0.000000 48 34 8 0 0 0 6 0 0 207 175 13 0 0 5 14 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8303 4306 12609 3 40 43 0.000361185 0.00920387 0.00339867 0.000361185 0.00920387 0.00339867 208 transition C T C>T 0.004 -1.247 191 PASS 0.02 0.01 . . . 0.014 0.0092 0.0029 0.004 0.006 0.015 . . . . . 0.13793103 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . 0.0092 0.0034 0.0004 0.0092 0.0034 0.0004 . -0.6435 . . . . . . . . 1.053e-03 . . . 0.0093 0.0014 0.0013 0 0 0.0002 0 0.0002 0.0099 0.0012 0.0013 0 0 0.0002 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0092 . . . 0.18 0.22 182 ENSG00000167633 . KIR3DL1 . . . . . . 50 0.000769515 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.003399 . . . . . 0.0101 0.0009 0.0009 0 0 0 0.0002 0 0.0002 0.0112 0.0035 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.02 rs45458503 rs45458503 rs45458503 rs45458503 1 1538 10 1.I 0,0,0 +rs45458503 19 55340794 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340794 55340794 Chr19(GRCh37):g.55340794C>T 1001-22 1001-22 NM_001322168.1:c.1001-22C>T p.? p.? 7 6 604946 -22 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 XI.67 0 rs45458503 yes no Frequency/1000G 2 T 0.000000 0 0.009185 0.014400 0.015300 0.004000 0.006000 0.002900 0.001186 0.010468 0.000908 0.000000 0.000000 0.000186 0.000218 0.000000 0.000000 0.010468 303 243 29 0 0 5 26 0 0 255490 23214 31946 9234 17992 26914 119440 20710 6040 0.000376 0.002929 0.000501 0.000000 0.000000 0.000000 0.000100 0.000000 0.000000 48 34 8 0 0 0 6 0 0 207 175 13 0 0 5 14 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8303 4306 12609 3 40 43 0.000361185 0.00920387 0.00339867 0.000361185 0.00920387 0.00339867 208 transition C T C>T 0.004 -1.247 191 PASS 0.02 0.01 . . . 0.014 0.0092 0.0029 0.004 0.006 0.015 . . . . . 0.13793103 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . 0.0092 0.0034 0.0004 0.0092 0.0034 0.0004 . -0.6435 . . . . . . . . 1.053e-03 . . . 0.0093 0.0014 0.0013 0 0 0.0002 0 0.0002 0.0099 0.0012 0.0013 0 0 0.0002 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0092 . . . 0.18 0.22 182 ENSG00000167633 . KIR3DL1 . . . . . . 50 0.000769515 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.003399 . . . . . 0.0101 0.0009 0.0009 0 0 0 0.0002 0 0.0002 0.0112 0.0035 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.02 rs45458503 rs45458503 rs45458503 rs45458503 1 1538 10 1.I 0,0,0 +rs749017908 19 55341357 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341357 55341357 Chr19(GRCh37):g.55341357C>G *77329 *77329 NM_001291695.1:c.*77329C>G p.? p.? 8 604953 77473 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs749017908 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000031 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000031 3 0 1 0 0 0 2 0 0 255386 22930 31812 9202 17870 26876 118918 21792 5986 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.004 -0.198 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.5119 . . . . . . . . 2.486e-05 . . . 0 3.622e-05 9.276e-05 0 0 5.128e-05 0 0 0 3.066e-05 9.557e-05 0 0 3.932e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.321e-05 3.222e-05 0 0 0 1.898e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749017908 19 55341357 C G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55341357 55341357 Chr19(GRCh37):g.55341357C>G 1106-26 1106-26 NM_001322168.1:c.1106-26C>G p.? p.? 8 7 604946 -26 3' 84.4733 XI.99 0.936224 14.7782 84.4733 XI.99 0.936224 14.3217 0 rs749017908 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000031 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000031 3 0 1 0 0 0 2 0 0 255386 22930 31812 9202 17870 26876 118918 21792 5986 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.004 -0.198 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.5119 . . . . . . . . 2.486e-05 . . . 0 3.622e-05 9.276e-05 0 0 5.128e-05 0 0 0 3.066e-05 9.557e-05 0 0 3.932e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.321e-05 3.222e-05 0 0 0 1.898e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs181475204 19 55341372 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341372 55341372 Chr19(GRCh37):g.55341372G>A *77344 *77344 NM_001291695.1:c.*77344G>A p.? p.? 8 604953 77488 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs181475204 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000413 0.003291 0.000313 0.000000 0.000838 0.000037 0.000025 0.000000 0.000166 0.003291 106 76 10 0 15 1 3 0 1 256876 23092 31980 9242 17908 26916 119294 22418 6026 0.000109 0.000693 0.000125 0.000000 0.000335 0.000000 0.000017 0.000000 0.000000 14 8 2 0 3 0 1 0 0 78 60 6 0 9 1 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5205 2961 8166 1 13 14 0.000192086 0.00437122 0.00171149 0.000192086 0.00437122 0.00171149 90 transition G A G>A 0.008 -0.279 182 PASS 0.0041 0.0009 . . . 0.0023 0.0006 . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0044 0.0017 0.0002 0.0044 0.0017 0.0002 . -0.3832 . . . . . . . . 4.134e-04 . . . 0.0039 0.0006 0.0005 0.0006 0 0 0 0 0.0040 0.0005 0.0005 0.0009 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.11 0.32 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0.001711 . . . . . 0.0036 0.0004 0.0003 0 0.0008 0 1.892e-05 0.0002 3.715e-05 0.0027 0.0009 0 0 0.0013 0 7.355e-05 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . 0.0044 . . rs181475204 rs181475204 1 1538 10 1/0 0,255,255 +rs181475204 19 55341372 G A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55341372 55341372 Chr19(GRCh37):g.55341372G>A 1106-11 1106-11 NM_001322168.1:c.1106-11G>A p.? p.? 8 7 604946 -11 3' 84.4733 XI.99 0.936224 14.7782 84.4733 10.923 0.922751 14.2865 -0.0321624 rs181475204 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000413 0.003291 0.000313 0.000000 0.000838 0.000037 0.000025 0.000000 0.000166 0.003291 106 76 10 0 15 1 3 0 1 256876 23092 31980 9242 17908 26916 119294 22418 6026 0.000109 0.000693 0.000125 0.000000 0.000335 0.000000 0.000017 0.000000 0.000000 14 8 2 0 3 0 1 0 0 78 60 6 0 9 1 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5205 2961 8166 1 13 14 0.000192086 0.00437122 0.00171149 0.000192086 0.00437122 0.00171149 90 transition G A G>A 0.008 -0.279 182 PASS 0.0041 0.0009 . . . 0.0023 0.0006 . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0044 0.0017 0.0002 0.0044 0.0017 0.0002 . -0.3832 . . . . . . . . 4.134e-04 . . . 0.0039 0.0006 0.0005 0.0006 0 0 0 0 0.0040 0.0005 0.0005 0.0009 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.11 0.32 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0.001711 . . . . . 0.0036 0.0004 0.0003 0 0.0008 0 1.892e-05 0.0002 3.715e-05 0.0027 0.0009 0 0 0.0013 0 7.355e-05 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . 0.0044 . . rs181475204 rs181475204 1 1538 10 1/0 0,255,255 +. 19 55341621 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341621 55341621 Chr19(GRCh37):g.55341621G>C *77593 *77593 NM_001291695.1:c.*77593G>C p.? p.? 8 604953 77737 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion G C G>C 0.020 -0.763 219 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T . . 0.21014492 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.053 . . 138.0 . . . . . . . . . . -1.1461 -1.326 -1.146 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.060 0.003 . . 37 . 0.004 . . 0.398 . . . 0.624 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.485 . . 0 0 0 0 0 0 . 0.163 . . 0.166 . . . . . . 0 0.632 . . . . . . . 0.123 . HET 0.01 . . . . . . . . . . . . . . . . 0.719 -1.44 . 0.080000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.785 -0.785000 . . 0.080000 . . 1.0E-219 0.000 0.063 . 0.095 0.029 . 0.044 . 0.278 -0.785 0.697 . . . . . 1 1538 10 1/0 0,222,255 +. 19 55341621 G C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341621 55341621 Chr19(GRCh37):g.55341621G>C 1226 1226 NM_001322168.1:c.1226G>C p.Arg409Thr p.Arg409Thr 9 604946 68 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 12.752 0 transversion G C G>C 0.020 -0.763 R Arg AGA 0.205 T Thr ACA 0.280 409 11 2 Sumatran orangutan -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 353.86 0.00 Tolerated 0.37 II.92 219 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T . . 0.21014492 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.053 . . 138.0 . . . . . . . . . . -1.1461 -1.326 -1.146 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.060 0.003 . . 37 . 0.004 . . 0.398 . . . 0.624 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.485 . . 0 0 0 0 0 0 . 0.163 . . 0.166 . . . . . . 0 0.632 . . . . . . . 0.123 . HET 0.01 . . . . . . . . . . . . . . . . 0.719 -1.44 . 0.080000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.785 -0.785000 . . 0.080000 . . 1.0E-219 0.000 0.063 . 0.095 0.029 . 0.044 . 0.278 -0.785 0.697 . . . . . 1 1538 10 1/0 0,222,255 +rs573252093 19 55341632 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341632 55341632 Chr19(GRCh37):g.55341632C>T *77604 *77604 NM_001291695.1:c.*77604C>T p.? p.? 8 604953 77748 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Weakly Activated 55341644 5.32302 0.843129 79.7396 5.20889 0.885489 83.0542 rs573252093 yes no Frequency/1000G 2 0.000200 T 1 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000048 0.000333 0.000096 0.000000 0.000000 0.000000 0.000019 0.000000 0.000194 0.000333 11 5 3 0 0 0 2 0 1 231278 15000 31380 9000 16524 26992 106452 20772 5158 0.090909 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 9 3 3 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transition C T C>T 0.000 0.609 223 PASS . . . . . 0.0008 0.0002 . . . . . . KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.223 . @ . . . . . 1 0.037 . . 139.0 . . . . . . . . . . -1.0185 -1.156 -1.018 c . . . . . 3.272e-05 . . . 0.0002 3.528e-05 9.166e-05 0 0 0 0 0 0.0001 2.007e-05 9.452e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.165 0.0002 . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.038 0.002 . . 37 . 0.004 . . 0.367 . . . 0.413 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.478 . . 0 0 0 0 0 0 . 0.161 . . 0.093 . . . . . . 0 0.491 . . . . . . . 0.129 . HET 0.05 . . . . . . . ID\x3dCOSM2156488\x3bOCCURENCE\x3d2(central_nervous_system) . . . . . . . . 0.569 0.569 . 0.100000 . . . . . . 0.040 . . . 0.0003 4.756e-05 9.56e-05 0 0 0 1.879e-05 0.0002 0 . . . . . . . . . . 0.133 . 0.567 0.567000 . . 0.100000 . . 1.0E-223 0.000 0.063 . 0.095 0.008 . 0.244 . 0.256 0.567 0.567 . . . . . 1 1538 10 1/0 0,223,255 +rs573252093 19 55341632 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341632 55341632 Chr19(GRCh37):g.55341632C>T 1237 1237 NM_001322168.1:c.1237C>T p.Arg413Cys p.Arg413Cys 9 604946 79 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XI.29 0 Cryptic Acceptor Weakly Activated 55341644 5.32302 0.843129 79.7396 5.20889 0.885489 83.0542 rs573252093 yes no Frequency/1000G 2 0.000200 T 1 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000048 0.000333 0.000096 0.000000 0.000000 0.000000 0.000019 0.000000 0.000194 0.000333 11 5 3 0 0 0 2 0 1 231278 15000 31380 9000 16524 26992 106452 20772 5158 0.090909 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 9 3 3 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transition C T C>T 0.000 0.609 R Arg CGC 0.190 C Cys TGC 0.552 413 11 2 Sumatran orangutan -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.08 II.97 223 PASS . . . . . 0.0008 0.0002 . . . . . . KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.223 . @ . . . . . 1 0.037 . . 139.0 . . . . . . . . . . -1.0185 -1.156 -1.018 c . . . . . 3.272e-05 . . . 0.0002 3.528e-05 9.166e-05 0 0 0 0 0 0.0001 2.007e-05 9.452e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.165 0.0002 . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.038 0.002 . . 37 . 0.004 . . 0.367 . . . 0.413 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.478 . . 0 0 0 0 0 0 . 0.161 . . 0.093 . . . . . . 0 0.491 . . . . . . . 0.129 . HET 0.05 . . . . . . . ID\x3dCOSM2156488\x3bOCCURENCE\x3d2(central_nervous_system) . . . . . . . . 0.569 0.569 . 0.100000 . . . . . . 0.040 . . . 0.0003 4.756e-05 9.56e-05 0 0 0 1.879e-05 0.0002 0 . . . . . . . . . . 0.133 . 0.567 0.567000 . . 0.100000 . . 1.0E-223 0.000 0.063 . 0.095 0.008 . 0.244 . 0.256 0.567 0.567 . . . . . 1 1538 10 1/0 0,223,255 +. 19 55341633 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341633 55341633 Chr19(GRCh37):g.55341633G>C *77605 *77605 NM_001291695.1:c.*77605G>C p.? p.? 8 604953 77749 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Weakly Activated 55341644 5.32302 0.843129 79.7396 6.21474 0.923118 79.7396 transversion G C G>C 0.000 -1.489 223 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.033 . . 139.0 . . . . . . . . . . -1.5963 -1.719 -1.596 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.077 0.003 . . 37 . 0.003 . . 0.471 . . . 0.096 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.247 . . 0 0 0 0 0 0 . 0.026 . . 0.080 . . . . . . 0 0.384 . . . . . . . 0.094 . HET 0.11 . . . . . . . . . . . . . . . . 0.569 -1.14 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.579 -1.579000 . . 0.050000 . . 1.0E-223 0.000 0.063 . 0.090 0.011 . 0.065 . 0.029 -1.579 -2.442 . . . . . 1 1538 10 1/0 0,223,255 +. 19 55341633 G C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341633 55341633 Chr19(GRCh37):g.55341633G>C 1238 1238 NM_001322168.1:c.1238G>C p.Arg413Pro p.Arg413Pro 9 604946 80 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.96 0 Cryptic Acceptor Weakly Activated 55341644 5.32302 0.843129 79.7396 6.21474 0.923118 79.7396 transversion G C G>C 0.000 -1.489 R Arg CGC 0.190 P Pro CCC 0.328 413 11 2 Sumatran orangutan -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Tolerated 0.74 II.97 223 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.033 . . 139.0 . . . . . . . . . . -1.5963 -1.719 -1.596 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.077 0.003 . . 37 . 0.003 . . 0.471 . . . 0.096 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.247 . . 0 0 0 0 0 0 . 0.026 . . 0.080 . . . . . . 0 0.384 . . . . . . . 0.094 . HET 0.11 . . . . . . . . . . . . . . . . 0.569 -1.14 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.579 -1.579000 . . 0.050000 . . 1.0E-223 0.000 0.063 . 0.090 0.011 . 0.065 . 0.029 -1.579 -2.442 . . . . . 1 1538 10 1/0 0,223,255 +. 19 55341658 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341658 55341658 Chr19(GRCh37):g.55341658C>T *77630 *77630 NM_001291695.1:c.*77630C>T p.? p.? 8 604953 77774 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition C T C>T 0.000 -0.360 223 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1263T:p.P421P . . 0.22077923 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . -0.4104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +. 19 55341658 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution synonymous exon GRCh37 55341658 55341658 Chr19(GRCh37):g.55341658C>T 1263 1263 NM_001322168.1:c.1263C>T p.Pro421= p.Pro421Pro 9 604946 105 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 transition C T C>T 0.000 -0.360 P Pro CCC 0.328 P Pro CCT 0.283 421 223 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1263T:p.P421P . . 0.22077923 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . -0.4104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs1049271 19 55341661 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341661 55341661 Chr19(GRCh37):g.55341661T>A *77633 *77633 NM_001291695.1:c.*77633T>A p.? p.? 8 604953 77777 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs1049271 yes no Frequency/1000G 2 0.000000 0 0.001797 0.001500 0.000000 0.000000 0.005000 0.002900 0.000060 0.000067 0.000064 0.000000 0.000060 0.000000 0.000075 0.000048 0.000194 0.000075 14 1 2 0 1 0 8 1 1 231406 14996 31414 9004 16532 27000 106512 20784 5164 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 2 0 0 0 0 0 2 0 0 10 1 2 0 1 0 4 1 1 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transversion T A T>A 0.004 -0.360 225 PASS . . . . . 0.0015 0.0018 0.0029 . 0.005 . . . KIR3DL1:NM_013289:exon9:c.T1266A:p.P422P . . 0.22666667 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . . . . . . . . . -0.5751 . . . . . . . . 5.561e-04 . . . 9.829e-05 0.0001 0.0004 0.0002 0 0.0002 0 0 0.0001 9.029e-05 0.0002 0.0001 0.0002 7.758e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.28 0.25 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . 36 0.000554051 64976 31 0.000516787 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.668e-05 6.05e-05 6.367e-05 0 6.049e-05 4.811e-05 7.511e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . rs1049271 rs1049271 rs1049271 rs1049271 1 1538 10 1/0 0,220,255 +rs1049271 19 55341661 T A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution synonymous exon GRCh37 55341661 55341661 Chr19(GRCh37):g.55341661T>A 1266 1266 NM_001322168.1:c.1266T>A p.Pro422= p.Pro422Pro 9 604946 108 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs1049271 yes no Frequency/1000G 2 0.000000 0 0.001797 0.001500 0.000000 0.000000 0.005000 0.002900 0.000060 0.000067 0.000064 0.000000 0.000060 0.000000 0.000075 0.000048 0.000194 0.000075 14 1 2 0 1 0 8 1 1 231406 14996 31414 9004 16532 27000 106512 20784 5164 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 2 0 0 0 0 0 2 0 0 10 1 2 0 1 0 4 1 1 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transversion T A T>A 0.004 -0.360 P Pro CCT 0.283 P Pro CCA 0.274 422 225 PASS . . . . . 0.0015 0.0018 0.0029 . 0.005 . . . KIR3DL1:NM_013289:exon9:c.T1266A:p.P422P . . 0.22666667 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . . . . . . . . . -0.5751 . . . . . . . . 5.561e-04 . . . 9.829e-05 0.0001 0.0004 0.0002 0 0.0002 0 0 0.0001 9.029e-05 0.0002 0.0001 0.0002 7.758e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.28 0.25 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . 36 0.000554051 64976 31 0.000516787 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.668e-05 6.05e-05 6.367e-05 0 6.049e-05 4.811e-05 7.511e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . rs1049271 rs1049271 rs1049271 rs1049271 1 1538 10 1/0 0,220,255 +rs199822561 19 55341672 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341672 55341672 Chr19(GRCh37):g.55341672T>C *77644 *77644 NM_001291695.1:c.*77644T>C p.? p.? 8 604953 77788 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition T C T>C 0.008 -0.198 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T . . 0.22516556 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.004 . . 151.0 . . . . . . . . . . -1.5375 -1.651 -1.537 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.106 0.0014 . . . 0.22 0.28 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.051 0.003 . . 37 . 0.004 . . 0.413 . . . 0.383 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.090 . . 0.121 . . . . . . 0 0.388 . . . . . . . 0.080 . HET 0.49 . . . . . . . . . . . . . . . . 0.569 -0.727 . 0.020000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.235 -0.235000 . . 0.020000 . . 1.0E-224 0.000 0.063 . 0.043 0.034 . 0.044 . 0.004 -0.235 -1.542 . . . . . 1 1538 10 1/0 0,220,255 +rs199822561 19 55341672 T C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341672 55341672 Chr19(GRCh37):g.55341672T>C 1277 1277 NM_001322168.1:c.1277T>C p.Ile426Thr p.Ile426Thr 9 604946 119 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 transition T C T>C 0.008 -0.198 I Ile ATC 0.481 T Thr ACC 0.361 426 11 2 Sumatran orangutan -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.23 III.39 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T . . 0.22516556 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.004 . . 151.0 . . . . . . . . . . -1.5375 -1.651 -1.537 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.106 0.0014 . . . 0.22 0.28 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.051 0.003 . . 37 . 0.004 . . 0.413 . . . 0.383 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.090 . . 0.121 . . . . . . 0 0.388 . . . . . . . 0.080 . HET 0.49 . . . . . . . . . . . . . . . . 0.569 -0.727 . 0.020000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.235 -0.235000 . . 0.020000 . . 1.0E-224 0.000 0.063 . 0.043 0.034 . 0.044 . 0.004 -0.235 -1.542 . . . . . 1 1538 10 1/0 0,220,255 +rs200821495 19 55341674 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341674 55341674 Chr19(GRCh37):g.55341674T>A *77646 *77646 NM_001291695.1:c.*77646T>A p.? p.? 8 604953 77790 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200821495 yes no Frequency/1000G 2 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 0.000019 2 0 0 0 0 0 2 0 0 231422 14998 31410 9000 16530 27002 106534 20786 5162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transversion T A T>A 0.012 -0.198 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M . . 0.22377622 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.056 . . 143.0 . . . . . . . . . . -1.4886 -1.561 -1.489 c . . . . . 1.635e-05 . . . 0 2.351e-05 0 0 0 5.002e-05 0 0 0 2.006e-05 0 0 0 3.879e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.165 0.0014 . . . 0.29 0.28 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.003 . . 0.412 . . . 0.024 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.158 . . 0.093 . . . . . . 0 0.437 . . . . . . . 0.127 . HET 0.03 . . . . . . . . . . . . . . . . 0.569 0.569 . 0.030000 . . . . . . 0.006 . . . 0 8.642e-06 0 0 0 0 1.877e-05 0 0 . . . . . . . . . . 0.133 . -0.221 -0.221000 . . 0.030000 . . 1.0E-224 0.001 0.137 . 0.016 0.037 . 0.077 . 0.004 -0.221 -2.116 . . . . . 1 1538 10 1/0 0,222,255 +rs200821495 19 55341674 T A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341674 55341674 Chr19(GRCh37):g.55341674T>A 1279 1279 NM_001322168.1:c.1279T>A p.Leu427Met p.Leu427Met 9 604946 121 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs200821495 yes no Frequency/1000G 2 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 0.000019 2 0 0 0 0 0 2 0 0 231422 14998 31410 9000 16530 27002 106534 20786 5162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transversion T A T>A 0.012 -0.198 L Leu TTG 0.127 M Met ATG 1.000 427 11 1 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 353.86 0.00 Tolerated 0.06 III.39 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M . . 0.22377622 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.056 . . 143.0 . . . . . . . . . . -1.4886 -1.561 -1.489 c . . . . . 1.635e-05 . . . 0 2.351e-05 0 0 0 5.002e-05 0 0 0 2.006e-05 0 0 0 3.879e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.165 0.0014 . . . 0.29 0.28 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.003 . . 0.412 . . . 0.024 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.158 . . 0.093 . . . . . . 0 0.437 . . . . . . . 0.127 . HET 0.03 . . . . . . . . . . . . . . . . 0.569 0.569 . 0.030000 . . . . . . 0.006 . . . 0 8.642e-06 0 0 0 0 1.877e-05 0 0 . . . . . . . . . . 0.133 . -0.221 -0.221000 . . 0.030000 . . 1.0E-224 0.001 0.137 . 0.016 0.037 . 0.077 . 0.004 -0.221 -2.116 . . . . . 1 1538 10 1/0 0,222,255 +rs72629105 19 55341681 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341681 55341681 Chr19(GRCh37):g.55341681C>T *77653 *77653 NM_001291695.1:c.*77653C>T p.? p.? 8 604953 77797 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs72629105 yes no Frequency 1 0.000000 0 0.000013 0.000200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000200 3 3 0 0 0 0 0 0 0 231426 15004 31400 8996 16530 27000 106560 20776 5160 0.333333 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 164 Exomes 8342 4341 12683 0 1 1 0 0.000230309 7.88395e-05 0 0.000230309 7.88395e-05 266 transition C T C>T 0.024 -0.360 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M . . 0.22580644 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.063 . . 155.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.2114 -1.357 -1.211 c . . . . . 4.088e-05 . . . 0.0004 4.704e-05 0 0 0 0 0 0 0.0005 5.016e-05 0 0 0 1.939e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.096 @ . . . 0.2 0.24 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.055 0.003 . . 37 . 0.003 . . 0.372 . . . 0.239 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.288 . . 0.227 . . . . . . 0 0.524 . . . . . . . 0.127 . HET 0.05 . . . . . . . . . . . . . . 2.71E-4 . 0.569 -1.01 . 0.060000 . . . . 0.000079 . 0.003 . . . 0.0002 1.296e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.398 -0.398000 . . 0.060000 . . 1.0E-224 0.000 0.063 . 0.016 0.085 . 0.021 . 0.004 -0.398 0.143 0.0002 . rs72629105 rs72629105 rs72629105 1 1538 10 1/0 0,219,255 +rs72629105 19 55341681 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341681 55341681 Chr19(GRCh37):g.55341681C>T 1286 1286 NM_001322168.1:c.1286C>T p.Thr429Met p.Thr429Met 9 604946 128 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs72629105 yes no Frequency 1 0.000000 0 0.000013 0.000200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000200 3 3 0 0 0 0 0 0 0 231426 15004 31400 8996 16530 27000 106560 20776 5160 0.333333 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 164 Exomes 8342 4341 12683 0 1 1 0 0.000230309 7.88395e-05 0 0.000230309 7.88395e-05 266 transition C T C>T 0.024 -0.360 T Thr ACG 0.116 M Met ATG 1.000 429 11 3 Rat -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Tolerated 0.26 III.39 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M . . 0.22580644 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.063 . . 155.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.2114 -1.357 -1.211 c . . . . . 4.088e-05 . . . 0.0004 4.704e-05 0 0 0 0 0 0 0.0005 5.016e-05 0 0 0 1.939e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.096 @ . . . 0.2 0.24 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.055 0.003 . . 37 . 0.003 . . 0.372 . . . 0.239 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.288 . . 0.227 . . . . . . 0 0.524 . . . . . . . 0.127 . HET 0.05 . . . . . . . . . . . . . . 2.71E-4 . 0.569 -1.01 . 0.060000 . . . . 0.000079 . 0.003 . . . 0.0002 1.296e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.398 -0.398000 . . 0.060000 . . 1.0E-224 0.000 0.063 . 0.016 0.085 . 0.021 . 0.004 -0.398 0.143 0.0002 . rs72629105 rs72629105 rs72629105 1 1538 10 1/0 0,219,255 +. 19 55341703 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341703 55341703 Chr19(GRCh37):g.55341703C>A *77675 *77675 NM_001291695.1:c.*77675C>A p.? p.? 8 604953 77819 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion C A C>A 0.008 0.690 217 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1308A:p.P436P . . 0.205298 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 19 55341703 C A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution synonymous exon GRCh37 55341703 55341703 Chr19(GRCh37):g.55341703C>A 1308 1308 NM_001322168.1:c.1308C>A p.Pro436= p.Pro436Pro 9 604946 150 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 transversion C A C>A 0.008 0.690 P Pro CCC 0.328 P Pro CCA 0.274 436 217 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1308A:p.P436P . . 0.205298 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 19 55341708 CCAAA C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 deletion downstream GRCh37 55341709 55341712 Chr19(GRCh37):g.55341709_55341712del *77681 *77684 NM_001291695.1:c.*77681_*77684del p.? p.? 8 604953 77825 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 CAAA 255 Pass . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.1314_1317del:p.S438fs . . 0.21323529 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,67 +. 19 55341708 CCAAA C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 deletion frameshift exon GRCh37 55341709 55341712 Chr19(GRCh37):g.55341709_55341712del 1314 1317 NM_001322168.1:c.1314_1317del p.Lys439Leufs*38 p.Lys439Leufs*38 9 604946 156 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 CAAA 255 Pass . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.1314_1317del:p.S438fs . . 0.21323529 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,67 +rs778020788 19 55341713 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341713 55341713 Chr19(GRCh37):g.55341713G>A *77685 *77685 NM_001291695.1:c.*77685G>A p.? p.? 8 604953 77829 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs778020788 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 231244 14998 31386 8998 16514 26996 106432 20762 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 163 Exomes transition G A G>A 0.000 -1.005 204 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1318A:p.V440I . . 0.17054264 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.346 . @ . . . . . 1 0.540 . . 129.0 . . . . . . . . . . -0.5556 -0.937 -0.556 c . . . . . 8.188e-06 . . . 0 1.176e-05 0 0 0 2.502e-05 0 0 0 1.004e-05 0 0 0 1.94e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.010 . . 0.457 . . . 0.826 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.670 . . 0.790 . . . . . . 0 0.912 . . . . . 0.045 . 0.072 . HET 0 . . . . . . . . . . . . . II.31 . . 0.736 -1.47 . 0.000000 . . . . . . 0.003 . . . 0 4.324e-06 0 0 0 0 9.396e-06 0 0 . . . . . . . . . . 0.133 . -1.142 -1.142000 . . 0.000000 . . 1.0E-204 0.000 0.063 . 0.062 0.034 . 0.024 . 0.031 -1.142 0.150 . . . . . 1 1538 10 1/0 0,222,255 +rs778020788 19 55341713 G A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341713 55341713 Chr19(GRCh37):g.55341713G>A 1318 1318 NM_001322168.1:c.1318G>A p.Val440Ile p.Val440Ile 9 604946 160 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs778020788 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 231244 14998 31386 8998 16514 26996 106432 20762 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 163 Exomes transition G A G>A 0.000 -1.005 V Val GTT 0.178 I Ile ATT 0.356 440 11 2 Sumatran orangutan 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 IV.32 204 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1318A:p.V440I . . 0.17054264 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.346 . @ . . . . . 1 0.540 . . 129.0 . . . . . . . . . . -0.5556 -0.937 -0.556 c . . . . . 8.188e-06 . . . 0 1.176e-05 0 0 0 2.502e-05 0 0 0 1.004e-05 0 0 0 1.94e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.010 . . 0.457 . . . 0.826 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.670 . . 0.790 . . . . . . 0 0.912 . . . . . 0.045 . 0.072 . HET 0 . . . . . . . . . . . . . II.31 . . 0.736 -1.47 . 0.000000 . . . . . . 0.003 . . . 0 4.324e-06 0 0 0 0 9.396e-06 0 0 . . . . . . . . . . 0.133 . -1.142 -1.142000 . . 0.000000 . . 1.0E-204 0.000 0.063 . 0.062 0.034 . 0.024 . 0.031 -1.142 0.150 . . . . . 1 1538 10 1/0 0,222,255 +rs368698449 19 55341729 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341729 55341729 Chr19(GRCh37):g.55341729G>A *77701 *77701 NM_001291695.1:c.*77701G>A p.? p.? 8 604953 77845 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs368698449 yes no Frequency 1 0.000000 0 0.000035 0.000122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000122 1 1 0 0 0 0 0 0 0 28398 8172 774 266 1508 0 13582 3190 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes 8336 4341 12677 0 1 1 0 0.000230309 7.88768e-05 0 0.000230309 7.88768e-05 196 transition G A G>A 0.217 0.690 208 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1334A:p.X445X . . 0.17886178 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 123.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.1786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.26 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000079 . . . . . . . . . . . . . . 0.0001 3.521e-05 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.0002 . . rs368698449 rs368698449 1 1538 10 1/0 0,225,255 +rs368698449 19 55341729 G A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution synonymous exon GRCh37 55341729 55341729 Chr19(GRCh37):g.55341729G>A 1334 1334 NM_001322168.1:c.1334G>A p.*445= p.*445* 9 604946 176 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs368698449 yes no Frequency 1 0.000000 0 0.000035 0.000122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000122 1 1 0 0 0 0 0 0 0 28398 8172 774 266 1508 0 13582 3190 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes 8336 4341 12677 0 1 1 0 0.000230309 7.88768e-05 0 0.000230309 7.88768e-05 196 transition G A G>A 0.217 0.690 * * TGA 0.489 * * TAA 0.277 445 208 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1334A:p.X445X . . 0.17886178 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 123.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.1786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.26 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000079 . . . . . . . . . . . . . . 0.0001 3.521e-05 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.0002 . . rs368698449 rs368698449 1 1538 10 1/0 0,225,255 +rs113238685 19 55344267 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55344267 55344267 Chr19(GRCh37):g.55344267G>A *80239 *80239 NM_001291695.1:c.*80239G>A p.? p.? 8 604953 80383 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs113238685 no no 0 0.000000 0 transition G A G>A 0.677 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.3220339 . . @ 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 413.0 . . . . . . . . . . -0.4112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113238685 rs113238685 1 1538 10 1/0 0,186,249 +rs113238685 19 55344267 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55344267 55344267 Chr19(GRCh37):g.55344267G>A 34+14 34+14 NM_001281971.1:c.34+14G>A p.? p.? 1 1 604955 14 5' 82.9985 9.27414 0.977682 11.0617 82.9985 9.27414 0.977682 X.09 0 rs113238685 no no 0 0.000000 0 transition G A G>A 0.677 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.3220339 . . @ 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 413.0 . . . . . . . . . . -0.4112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113238685 rs113238685 1 1538 10 1/0 0,186,249 +rs750525542 19 55344285 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55344285 55344285 Chr19(GRCh37):g.55344285C>T *80257 *80257 NM_001291695.1:c.*80257C>T p.? p.? 8 604953 80401 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs750525542 yes no Frequency 1 0.000000 0 0.000022 0.000067 0.000000 0.000000 0.000000 0.000000 0.000038 0.000000 0.000000 0.000067 5 1 0 0 0 0 4 0 0 228418 14884 31216 8972 16414 26944 105636 19232 5120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 89 Exomes transition C T C>T 0.024 -1.489 226 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 364.0 . . . . . . . . . . -0.5550 . . . . . . . . 1.651e-05 . . . 0 2.381e-05 0 0 0 5.073e-05 0 0 0 2.02e-05 0 0 0 3.901e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.719e-05 2.189e-05 0 0 0 0 3.787e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs750525542 19 55344285 C T - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55344285 55344285 Chr19(GRCh37):g.55344285C>T 34+32 34+32 NM_001281971.1:c.34+32C>T p.? p.? 1 1 604955 32 5' 82.9985 9.27414 0.977682 11.0617 82.9985 9.27414 0.977682 X.61 0 rs750525542 yes no Frequency 1 0.000000 0 0.000022 0.000067 0.000000 0.000000 0.000000 0.000000 0.000038 0.000000 0.000000 0.000067 5 1 0 0 0 0 4 0 0 228418 14884 31216 8972 16414 26944 105636 19232 5120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 89 Exomes transition C T C>T 0.024 -1.489 226 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 364.0 . . . . . . . . . . -0.5550 . . . . . . . . 1.651e-05 . . . 0 2.381e-05 0 0 0 5.073e-05 0 0 0 2.02e-05 0 0 0 3.901e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.719e-05 2.189e-05 0 0 0 0 3.787e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs111922136 19 55344287 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55344287 55344287 Chr19(GRCh37):g.55344287T>C *80259 *80259 NM_001291695.1:c.*80259T>C p.? p.? 8 604953 80403 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs111922136 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 0.000000 0.000000 0.000061 1 0 0 0 1 0 0 0 0 227544 14802 31046 8948 16316 26872 105242 19238 5080 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 89 Exomes transition T C T>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.7746479 . . @ 275 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 355.0 . . . . . . . . . . -0.5594 . . . . . . . . 8.257e-06 . . . 0 1.19e-05 0 0.0002 0 0 0 0 0 1.01e-05 0 0.0001 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.16 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.395e-06 0 0 6.129e-05 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72629111 rs72629111 rs111922136 1 1538 10 1/0 0,214,211 +rs111922136 19 55344287 T C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55344287 55344287 Chr19(GRCh37):g.55344287T>C 34+34 34+34 NM_001281971.1:c.34+34T>C p.? p.? 1 1 604955 34 5' 82.9985 9.27414 0.977682 11.0617 82.9985 9.27414 0.977682 X.65 0 rs111922136 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 0.000000 0.000000 0.000061 1 0 0 0 1 0 0 0 0 227544 14802 31046 8948 16316 26872 105242 19238 5080 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 89 Exomes transition T C T>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.7746479 . . @ 275 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 355.0 . . . . . . . . . . -0.5594 . . . . . . . . 8.257e-06 . . . 0 1.19e-05 0 0.0002 0 0 0 0 0 1.01e-05 0 0.0001 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.16 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.395e-06 0 0 6.129e-05 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72629111 rs72629111 rs111922136 1 1538 10 1/0 0,214,211 +rs2916051 19 55344322 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55344322 55344322 Chr19(GRCh37):g.55344322G>A *80294 *80294 NM_001291695.1:c.*80294G>A p.? p.? 8 604953 80438 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2916051 yes no Frequency/1000G 2 0.000000 0 transition G A G>A 0.000 -0.360 255 PASS 0.01 0.0046 0.01 . 0.01 . . . . . . . . . . . 0.6609442 . . @ 154 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . . . . . . . . -0.5202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.06 0.11 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2916051 rs2916051 rs2916051 rs2916051 1 1538 10 1/0 0,240,248 +rs2916051 19 55344322 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55344322 55344322 Chr19(GRCh37):g.55344322G>A 34+69 34+69 NM_001281971.1:c.34+69G>A p.? p.? 1 1 604955 69 5' 82.9985 9.27414 0.977682 11.0617 82.9985 9.27414 0.977682 X.48 0 rs2916051 yes no Frequency/1000G 2 0.000000 0 transition G A G>A 0.000 -0.360 255 PASS 0.01 0.0046 0.01 . 0.01 . . . . . . . . . . . 0.6609442 . . @ 154 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . . . . . . . . -0.5202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.06 0.11 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2916051 rs2916051 rs2916051 rs2916051 1 1538 10 1/0 0,240,248 +rs370536807 19 55346386 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346386 55346386 Chr19(GRCh37):g.55346386A>C *82358 *82358 NM_001291695.1:c.*82358A>C p.? p.? 8 604953 82502 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs370536807 no no 0 0.000000 0 0.000431 0.000371 0.001326 0.000000 0.000000 0.000000 0.000530 0.000317 0.000000 0.001326 12 3 1 0 0 0 7 1 0 27810 8078 754 252 1496 0 13204 3154 872 0.083333 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 10 1 1 0 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A C A>C 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 162.0 . . . . . . . . . . -0.6104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.054 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0013 0 0 0.0003 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.054 . . rs370536807 rs370536807 1 1538 10 1/0 0,242,248 +rs370536807 19 55346386 A C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346386 55346386 Chr19(GRCh37):g.55346386A>C 35-148 35-148 NM_001281971.1:c.35-148A>C p.? p.? 2 1 604955 -148 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.114 0 rs370536807 no no 0 0.000000 0 0.000431 0.000371 0.001326 0.000000 0.000000 0.000000 0.000530 0.000317 0.000000 0.001326 12 3 1 0 0 0 7 1 0 27810 8078 754 252 1496 0 13204 3154 872 0.083333 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 10 1 1 0 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A C A>C 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 162.0 . . . . . . . . . . -0.6104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.054 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0013 0 0 0.0003 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.054 . . rs370536807 rs370536807 1 1538 10 1/0 0,242,248 +rs186270835 19 55346414 T G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346414 55346414 Chr19(GRCh37):g.55346414T>G *82386 *82386 NM_001291695.1:c.*82386T>G p.? p.? 8 604953 82530 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs186270835 yes no Frequency/1000G 2 0.000000 0 0.024161 0.007600 0.067500 0.015900 0.019900 0.013000 0.001093 0.003790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003790 31 31 0 0 0 0 0 0 0 28370 8180 766 268 1510 0 13562 3182 902 0.064516 0.064516 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 27 27 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion T G T>G 0.000 -1.570 255 PASS 0.01 0.0027 . . . 0.0076 0.024 0.013 0.016 0.02 0.068 . . . . . 0.5276074 . . @ 86 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . -0.7098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0242 . . . 0.08 0.13 182 . . KIR2DS4 . . . . . . 419 0.00644853 64976 329 0.00548461 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.120 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0011 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 . . rs186270835 rs186270835 1 1538 10 1/0 0,243,255 +rs186270835 19 55346414 T G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346414 55346414 Chr19(GRCh37):g.55346414T>G 35-120 35-120 NM_001281971.1:c.35-120T>G p.? p.? 2 1 604955 -120 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.114 0 rs186270835 yes no Frequency/1000G 2 0.000000 0 0.024161 0.007600 0.067500 0.015900 0.019900 0.013000 0.001093 0.003790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003790 31 31 0 0 0 0 0 0 0 28370 8180 766 268 1510 0 13562 3182 902 0.064516 0.064516 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 27 27 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion T G T>G 0.000 -1.570 255 PASS 0.01 0.0027 . . . 0.0076 0.024 0.013 0.016 0.02 0.068 . . . . . 0.5276074 . . @ 86 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . -0.7098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0242 . . . 0.08 0.13 182 . . KIR2DS4 . . . . . . 419 0.00644853 64976 329 0.00548461 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.120 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0011 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 . . rs186270835 rs186270835 1 1538 10 1/0 0,243,255 +rs373284780 19 55346443 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346443 55346443 Chr19(GRCh37):g.55346443G>C *82415 *82415 NM_001291695.1:c.*82415G>C p.? p.? 8 604953 82559 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs373284780 no no 0 0.000000 0 transversion G C G>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.45751634 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.5016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.065 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs373284780 rs373284780 1 1538 10 1/0 0,243,255 +rs373284780 19 55346443 G C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346443 55346443 Chr19(GRCh37):g.55346443G>C 35-91 35-91 NM_001281971.1:c.35-91G>C p.? p.? 2 1 604955 -91 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.114 0 rs373284780 no no 0 0.000000 0 transversion G C G>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.45751634 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.5016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.065 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs373284780 rs373284780 1 1538 10 1/0 0,243,255 +rs375560081 19 55346451 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346451 55346451 Chr19(GRCh37):g.55346451T>C *82423 *82423 NM_001291695.1:c.*82423T>C p.? p.? 8 604953 82567 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs375560081 no no 0 0.000000 0 transition T C T>C 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.3586207 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.7305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.065 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs375560081 rs375560081 1 1538 10 1/0 0,237,255 +rs375560081 19 55346451 T C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346451 55346451 Chr19(GRCh37):g.55346451T>C 35-83 35-83 NM_001281971.1:c.35-83T>C p.? p.? 2 1 604955 -83 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.114 0 55346453 -24.7594 rs375560081 no no 0 0.000000 0 transition T C T>C 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.3586207 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.7305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.065 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs375560081 rs375560081 1 1538 10 1/0 0,237,255 +rs540088615 19 55346466 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346466 55346466 Chr19(GRCh37):g.55346466C>T *82438 *82438 NM_001291695.1:c.*82438C>T p.? p.? 8 604953 82582 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs540088615 yes no Frequency/1000G 2 0.000000 0 0.016374 0.004500 0.040900 0.011900 0.016900 0.010100 transition C T C>T 0.118 1.255 255 PASS . . . . . 0.0045 0.016 0.01 0.012 0.017 0.041 . . . . . 0.35074627 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . -0.3502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0164 . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . . . 1 1538 10 1/0 0,240,255 +rs540088615 19 55346466 C T - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346466 55346466 Chr19(GRCh37):g.55346466C>T 35-68 35-68 NM_001281971.1:c.35-68C>T p.? p.? 2 1 604955 -68 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 6.97931 0 rs540088615 yes no Frequency/1000G 2 0.000000 0 0.016374 0.004500 0.040900 0.011900 0.016900 0.010100 transition C T C>T 0.118 1.255 255 PASS . . . . . 0.0045 0.016 0.01 0.012 0.017 0.041 . . . . . 0.35074627 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . -0.3502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0164 . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . . . 1 1538 10 1/0 0,240,255 +rs148171453 19 55346474 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346474 55346474 Chr19(GRCh37):g.55346474G>A *82446 *82446 NM_001291695.1:c.*82446G>A p.? p.? 8 604953 82590 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs148171453 yes no Frequency/1000G 2 0.000000 0 0.016174 0.004500 0.040900 0.011900 0.016900 0.008600 transition G A G>A 0.173 1.255 255 PASS . . . . . 0.0045 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.33333334 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . -0.2788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.11 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148171453 rs148171453 1 1538 10 1/0 0,240,255 +rs148171453 19 55346474 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346474 55346474 Chr19(GRCh37):g.55346474G>A 35-60 35-60 NM_001281971.1:c.35-60G>A p.? p.? 2 1 604955 -60 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 6.95799 0 rs148171453 yes no Frequency/1000G 2 0.000000 0 0.016174 0.004500 0.040900 0.011900 0.016900 0.008600 transition G A G>A 0.173 1.255 255 PASS . . . . . 0.0045 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.33333334 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . -0.2788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.11 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148171453 rs148171453 1 1538 10 1/0 0,240,255 +rs145598651 19 55346475 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346475 55346475 Chr19(GRCh37):g.55346475C>T *82447 *82447 NM_001291695.1:c.*82447C>T p.? p.? 8 604953 82591 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs145598651 yes no Frequency/1000G 2 0.000000 0 0.016174 0.004500 0.040900 0.011900 0.016900 0.008600 transition C T C>T 0.087 1.255 251 PASS . . . . . 0.0045 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.30952382 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.2924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.15 0.12 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs145598651 rs145598651 1 1538 10 1/0 0,238,255 +rs145598651 19 55346475 C T - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346475 55346475 Chr19(GRCh37):g.55346475C>T 35-59 35-59 NM_001281971.1:c.35-59C>T p.? p.? 2 1 604955 -59 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.29622 0 rs145598651 yes no Frequency/1000G 2 0.000000 0 0.016174 0.004500 0.040900 0.011900 0.016900 0.008600 transition C T C>T 0.087 1.255 251 PASS . . . . . 0.0045 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.30952382 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.2924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.15 0.12 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs145598651 rs145598651 1 1538 10 1/0 0,238,255 +rs146702057 19 55346490 T G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346490 55346490 Chr19(GRCh37):g.55346490T>G *82462 *82462 NM_001291695.1:c.*82462T>G p.? p.? 8 604953 82606 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55346490 0.000339 53.0461 0.724257 0.005875 65.6611 rs146702057 yes no Frequency/1000G 2 0.000000 0 0.016374 0.005300 0.040900 0.011900 0.016900 0.008600 0.000030 0.000000 0.000032 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 0.000057 7 0 1 0 0 0 6 0 0 229812 14978 31150 8926 16476 26948 105526 20694 5114 0.285714 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 2 0 0 0 0 0 2 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 136 Exomes transversion T G T>G 0.016 -0.198 255 PASS . . . . . 0.0053 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.32743362 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . . . . . . . -0.4983 . . . . . . . . 4.507e-04 . . . 0 5.886e-05 0 0.0002 0 0.0001 0 0 0 1.005e-05 0 0.0001 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0164 . . . 0.22 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.046e-05 3.21e-05 0 0 0 5.686e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs146702057 rs146702057 1 1538 10 1/0 0,244,255 +rs146702057 19 55346490 T G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346490 55346490 Chr19(GRCh37):g.55346490T>G 35-44 35-44 NM_001281971.1:c.35-44T>G p.? p.? 2 1 604955 -44 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.17388 0 Cryptic Donor Strongly Activated 55346490 0.000339 53.0461 0.724257 0.005875 65.6611 rs146702057 yes no Frequency/1000G 2 0.000000 0 0.016374 0.005300 0.040900 0.011900 0.016900 0.008600 0.000030 0.000000 0.000032 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 0.000057 7 0 1 0 0 0 6 0 0 229812 14978 31150 8926 16476 26948 105526 20694 5114 0.285714 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 2 0 0 0 0 0 2 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 136 Exomes transversion T G T>G 0.016 -0.198 255 PASS . . . . . 0.0053 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.32743362 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . . . . . . . -0.4983 . . . . . . . . 4.507e-04 . . . 0 5.886e-05 0 0.0002 0 0.0001 0 0 0 1.005e-05 0 0.0001 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0164 . . . 0.22 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.046e-05 3.21e-05 0 0 0 5.686e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs146702057 rs146702057 1 1538 10 1/0 0,244,255 +rs143336635 19 55346502 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346502 55346502 Chr19(GRCh37):g.55346502A>G *82474 *82474 NM_001291695.1:c.*82474A>G p.? p.? 8 604953 82618 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 New Acceptor Site 55346503 8.48663 0.777392 91.5311 rs143336635 yes no Frequency 1 0.000000 0 0.000091 0.000000 0.000000 0.000000 0.000000 0.000000 0.000180 0.000048 0.000195 0.000180 21 0 0 0 0 0 19 1 1 230144 14982 31212 8934 16496 26950 105730 20712 5128 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.157895 0.000000 0.000000 3 0 0 0 0 0 3 0 0 15 0 0 0 0 0 13 1 1 0 0 0 0 0 0 0 0 0 RF 137 Exomes transition A G A>G 0.024 -1.086 248 PASS . . . . . . . . . . . . . . . . 0.2990654 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.6004 . . . . . . . . 3.115e-03 . . . 0 0.0002 0 0 0 0.0004 0.0015 0.0001 0 0.0002 0 0 0.0002 0.0003 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.13 0.07 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.125e-05 0 0 0 4.828e-05 0.0002 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.033 . . rs143336635 rs143336635 1 1538 10 1/0 0,243,255 +rs143336635 19 55346502 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346502 55346502 Chr19(GRCh37):g.55346502A>G 35-32 35-32 NM_001281971.1:c.35-32A>G p.? p.? 2 1 604955 -32 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.09783 0 New Acceptor Site 55346503 8.48663 0.777392 91.5311 rs143336635 yes no Frequency 1 0.000000 0 0.000091 0.000000 0.000000 0.000000 0.000000 0.000000 0.000180 0.000048 0.000195 0.000180 21 0 0 0 0 0 19 1 1 230144 14982 31212 8934 16496 26950 105730 20712 5128 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.157895 0.000000 0.000000 3 0 0 0 0 0 3 0 0 15 0 0 0 0 0 13 1 1 0 0 0 0 0 0 0 0 0 RF 137 Exomes transition A G A>G 0.024 -1.086 248 PASS . . . . . . . . . . . . . . . . 0.2990654 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.6004 . . . . . . . . 3.115e-03 . . . 0 0.0002 0 0 0 0.0004 0.0015 0.0001 0 0.0002 0 0 0.0002 0.0003 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.13 0.07 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.125e-05 0 0 0 4.828e-05 0.0002 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.033 . . rs143336635 rs143336635 1 1538 10 1/0 0,243,255 +rs760481684 19 55354367 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55354367 55354367 Chr19(GRCh37):g.55354367A>G *90339 *90339 NM_001291695.1:c.*90339A>G p.? p.? 8 604953 90483 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000166 0.000017 3 0 0 0 0 0 2 0 1 258346 23192 32006 9208 17988 26912 119168 23860 6012 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 AC0 0 Exomes+Genomes transition A G A>G 0.031 0.528 196 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon6:c.A685G:p.K229E KIR2DS4:NM_001281971:exon5:c.A687G:p.P229P . . 0.15 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.3489 . . . . . . . . 8.233e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 unknown nonsynonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.25 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.305e-05 0 0 0 0 1.896e-05 0.0002 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs1130508 rs1130508 rs1130508 rs1130508 1 1538 10 1/0 0,252,255 +rs760481684 19 55354367 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution synonymous exon GRCh37 55354367 55354367 Chr19(GRCh37):g.55354367A>G 687 687 NM_001281971.1:c.687A>G p.Pro229= p.Pro229Pro 5 604955 -7 5' 86.7234 X.83 0.995929 9.67654 86.7234 X.83 0.995859 10.0735 -2.34287e-05 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000166 0.000017 3 0 0 0 0 0 2 0 1 258346 23192 32006 9208 17988 26912 119168 23860 6012 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 AC0 0 Exomes+Genomes transition A G A>G 0.031 0.528 P Pro CCA 0.274 P Pro CCG 0.115 229 196 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon6:c.A685G:p.K229E KIR2DS4:NM_001281971:exon5:c.A687G:p.P229P . . 0.15 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.3489 . . . . . . . . 8.233e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 unknown nonsynonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.25 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.305e-05 0 0 0 0 1.896e-05 0.0002 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs1130508 rs1130508 rs1130508 rs1130508 1 1538 10 1/0 0,252,255 +rs368334586 19 55354409 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55354409 55354409 Chr19(GRCh37):g.55354409C>A *90381 *90381 NM_001291695.1:c.*90381C>A p.? p.? 8 604953 90525 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs368334586 yes no Frequency 1 0.000000 0 0.000110 0.000087 0.000000 0.000000 0.001232 0.000038 0.000025 0.000000 0.000000 0.001232 28 2 0 0 22 1 3 0 0 254912 23024 31100 8990 17854 26250 118034 23718 5942 0.000039 0.000087 0.000000 0.000000 0.000336 0.000000 0.000017 0.000000 0.000000 5 1 0 0 3 0 1 0 0 18 0 0 0 16 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.7206 . . . . . . . . 7.433e-05 . . . 9.938e-05 7.112e-05 0 0.0007 0 2.527e-05 0 0 0.0001 8.092e-05 0 0.0008 0 1.959e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0.0012 0 2.875e-05 0 3.81e-05 0 0.0001 0 0 0.0020 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs368334586 rs368334586 1 1538 10 1/0 0,255,255 +rs368334586 19 55354409 C A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55354409 55354409 Chr19(GRCh37):g.55354409C>A 693+36 693+36 NM_001281971.1:c.693+36C>A p.? p.? 5 5 604955 36 5' 86.7234 X.83 0.995929 9.67654 86.7234 X.83 0.995929 9.27773 0 rs368334586 yes no Frequency 1 0.000000 0 0.000110 0.000087 0.000000 0.000000 0.001232 0.000038 0.000025 0.000000 0.000000 0.001232 28 2 0 0 22 1 3 0 0 254912 23024 31100 8990 17854 26250 118034 23718 5942 0.000039 0.000087 0.000000 0.000000 0.000336 0.000000 0.000017 0.000000 0.000000 5 1 0 0 3 0 1 0 0 18 0 0 0 16 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.7206 . . . . . . . . 7.433e-05 . . . 9.938e-05 7.112e-05 0 0.0007 0 2.527e-05 0 0 0.0001 8.092e-05 0 0.0008 0 1.959e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0.0012 0 2.875e-05 0 3.81e-05 0 0.0001 0 0 0.0020 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs368334586 rs368334586 1 1538 10 1/0 0,255,255 +rs144486451 19 55358645 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358645 55358645 Chr19(GRCh37):g.55358645C>T *94617 *94617 NM_001291695.1:c.*94617C>T p.? p.? 8 604953 94761 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs144486451 no no 0 0.000000 0 transition C T C>T 0.004 -0.037 237 PASS . . . . . . . . . . . UNKNOWN . . . . 0.2616279 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 344.0 . . . . . . . . . . -0.3504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.3 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs79131306 rs144486451 1 1538 10 1/0 0,187,248 +rs144486451 19 55358645 C T - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution missense exon GRCh37 55358645 55358645 Chr19(GRCh37):g.55358645C>T 700 700 NM_001281971.1:c.700C>T p.Pro234Ser p.Pro234Ser 6 604955 7 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.988066 X.28 -5.05962e-05 rs144486451 no no 0 0.000000 0 transition C T C>T 0.004 -0.037 P Pro CCA 0.274 S Ser TCA 0.148 234 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 237 PASS . . . . . . . . . . . UNKNOWN . . . . 0.2616279 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 344.0 . . . . . . . . . . -0.3504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.3 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs79131306 rs144486451 1 1538 10 1/0 0,187,248 +rs113664264 19 55358655 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358655 55358655 Chr19(GRCh37):g.55358655A>G *94627 *94627 NM_001291695.1:c.*94627A>G p.? p.? 8 604953 94771 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs113664264 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.037 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc010esg.1:exon5:c.A659G:p.Y220C . . . 0.5988539 . . @ 209 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 349.0 . . . . . . . . . . -0.4193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1654643 rs1654643 rs1654643 rs113664264 1 1538 10 1/0 0,210,215 +rs113664264 19 55358655 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution missense exon GRCh37 55358655 55358655 Chr19(GRCh37):g.55358655A>G 710 710 NM_001281971.1:c.710A>G p.Tyr237Cys p.Tyr237Cys 6 604955 17 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.987683 11.206 -0.000179785 rs113664264 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.037 Y Tyr TAC 0.562 C Cys TGC 0.552 237 -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc010esg.1:exon5:c.A659G:p.Y220C . . . 0.5988539 . . @ 209 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 349.0 . . . . . . . . . . -0.4193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1654643 rs1654643 rs1654643 rs113664264 1 1538 10 1/0 0,210,215 +rs72489166 19 55358658 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358658 55358658 Chr19(GRCh37):g.55358658T>C *94630 *94630 NM_001291695.1:c.*94630T>C p.? p.? 8 604953 94774 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs72489166 yes no Frequency 1 0.000000 0 transition T C T>C 0.000 -2.700 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc010esg.1:exon5:c.T662C:p.M221T . . . 0.4092219 . . @ 142 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 347.0 . . . . . . . . . . -0.9150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.48 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs17404481 rs17404481 rs72489166 rs201149643 1 1538 10 1/0 0,200,231 +rs72489166 19 55358658 T C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution missense exon GRCh37 55358658 55358658 Chr19(GRCh37):g.55358658T>C 713 713 NM_001281971.1:c.713T>C p.Met238Thr p.Met238Thr 6 604955 20 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.990899 11.0684 0.000904998 rs72489166 yes no Frequency 1 0.000000 0 transition T C T>C 0.000 -2.700 M Met ATG 1.000 T Thr ACG 0.116 238 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc010esg.1:exon5:c.T662C:p.M221T . . . 0.4092219 . . @ 142 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 347.0 . . . . . . . . . . -0.9150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.48 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs17404481 rs17404481 rs72489166 rs201149643 1 1538 10 1/0 0,200,231 +rs139340501 19 55358659 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358659 55358659 Chr19(GRCh37):g.55358659G>A *94631 *94631 NM_001291695.1:c.*94631G>A p.? p.? 8 604953 94775 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs139340501 yes no Frequency 1 0.000000 0 transition G A G>A 0.000 -0.521 231 PASS . . . . . . . . . . . UNKNOWN . . . . 0.24431819 . . @ 86 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 352.0 . . . . . . . . . . -0.3861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.36 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . rs139340501 rs139340501 1 1538 10 1/0 0,185,251 +rs139340501 19 55358659 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution missense exon GRCh37 55358659 55358659 Chr19(GRCh37):g.55358659G>A 714 714 NM_001281971.1:c.714G>A p.Met238Ile p.Met238Ile 6 604955 21 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.988216 10.339 0 rs139340501 yes no Frequency 1 0.000000 0 transition G A G>A 0.000 -0.521 M Met ATG 1.000 I Ile ATA 0.163 238 2 1 2 0 0 5.VII 5.II 105 111 10 231 PASS . . . . . . . . . . . UNKNOWN . . . . 0.24431819 . . @ 86 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 352.0 . . . . . . . . . . -0.3861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.36 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . rs139340501 rs139340501 1 1538 10 1/0 0,185,251 +rs112697729 19 55358686 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358686 55358686 Chr19(GRCh37):g.55358686A>C *94658 *94658 NM_001291695.1:c.*94658A>C p.? p.? 8 604953 94802 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs112697729 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 226 54 14 2 0 0 64 76 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 433 Genomes transversion A C A>C 0.000 0.690 199 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon7:c.A739C:p.I247L UNKNOWN . . 0.15692307 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 325.0 . . . . . . . . . . -0.2703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.44 0.33 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . 0.087 . . rs112697729 rs112697729 1 1538 10 1/0 0,181,255 +rs112697729 19 55358686 A C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55358686 55358686 Chr19(GRCh37):g.55358686A>C *21 *21 NM_001281971.1:c.*21A>C p.? p.? 6 604955 48 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.988216 XI.32 0 rs112697729 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 226 54 14 2 0 0 64 76 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 433 Genomes transversion A C A>C 0.000 0.690 199 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon7:c.A739C:p.I247L UNKNOWN . . 0.15692307 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 325.0 . . . . . . . . . . -0.2703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.44 0.33 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . 0.087 . . rs112697729 rs112697729 1 1538 10 1/0 0,181,255 +. 19 55358734 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358734 55358734 Chr19(GRCh37):g.55358734G>A *94706 *94706 NM_001291695.1:c.*94706G>A p.? p.? 8 604953 94850 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 156 8 14 4 10 46 70 2 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.974 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon7:c.G787A:p.D263N UNKNOWN . . 0.75598085 . . @ 158 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 209.0 . . . . . . . . . . -0.7375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 . 0 0 0 0 0 0 . . 0 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs1743319 rs1743319 rs1743319 rs150361840 1 1538 10 1/0 0,247,248 +. 19 55358734 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55358734 55358734 Chr19(GRCh37):g.55358734G>A *69 *69 NM_001281971.1:c.*69G>A p.? p.? 6 604955 -10 5' 87.5573 9.72159 0.99591 7.78155 87.5573 9.72159 0.99591 VII.43 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 156 8 14 4 10 46 70 2 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.974 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon7:c.G787A:p.D263N UNKNOWN . . 0.75598085 . . @ 158 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 209.0 . . . . . . . . . . -0.7375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 . 0 0 0 0 0 0 . . 0 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs1743319 rs1743319 rs1743319 rs150361840 1 1538 10 1/0 0,247,248 +. 19 55359243 AAC A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 deletion downstream GRCh37 55359245 55359246 Chr19(GRCh37):g.55359245_55359246del *95217 *95218 NM_001291695.1:c.*95217_*95218del p.? p.? 8 604953 95361 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs138992022 no no 0 0.000000 0 CA 255 Pass . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon8:c.835_836del:p.T279fs UNKNOWN . . 0.2540193 . . . 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown frameshift_deletion unknown . . . exonic exonic exonic . . . . . . . . . . ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138992022 rs138992022 1 1538 10 1.I 0,9,60 +. 19 55359243 AAC A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 deletion 3'UTR GRCh37 55359245 55359246 Chr19(GRCh37):g.55359245_55359246del *118 *119 NM_001281971.1:c.*118_*119del p.? p.? 7 604955 -13 5' 86.8647 IX.15 0.983199 9.84992 86.8647 IX.15 0.983199 10.0099 0 rs138992022 no no 0 0.000000 0 CA 255 Pass . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon8:c.835_836del:p.T279fs UNKNOWN . . 0.2540193 . . . 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown frameshift_deletion unknown . . . exonic exonic exonic . . . . . . . . . . ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138992022 rs138992022 1 1538 10 1.I 0,9,60 +rs2736416 19 55359255 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359255 55359255 Chr19(GRCh37):g.55359255C>G *95227 *95227 NM_001291695.1:c.*95227C>G p.? p.? 8 604953 95371 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs1130471 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -2.539 175 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon8:c.C846G:p.S282R UNKNOWN . . 0.10280374 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 321.0 . . . . . . . . . . -0.7278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.45 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.011 rs1130471 rs1130471 rs1130471 rs1130471 1 1538 10 1/0 0,176,255 +rs2736416 19 55359255 C G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359255 55359255 Chr19(GRCh37):g.55359255C>G *128 *128 NM_001281971.1:c.*128C>G p.? p.? 7 604955 -4 5' 86.8647 IX.15 0.983199 9.84992 86.8647 IX.15 0.93013 7.71779 -0.0179919 rs1130471 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -2.539 175 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon8:c.C846G:p.S282R UNKNOWN . . 0.10280374 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 321.0 . . . . . . . . . . -0.7278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.45 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.011 rs1130471 rs1130471 rs1130471 rs1130471 1 1538 10 1/0 0,176,255 +rs62122200 19 55359272 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359272 55359272 Chr19(GRCh37):g.55359272C>G *95244 *95244 NM_001291695.1:c.*95244C>G p.? p.? 8 604953 95388 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62122200 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.9854651 . . @ 339 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 344.0 . . . . . . . . . . -0.5788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.34 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.446 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.45 rs62122200 rs62122200 rs62122200 rs146326983 1 1538 255 1.I 0,0,255 +rs62122200 19 55359272 C G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55359272 55359272 Chr19(GRCh37):g.55359272C>G *131+14 *131+14 NM_001281971.1:c.*131+14C>G p.? p.? 7 7 604955 14 5' 86.8647 IX.15 0.983199 9.84992 86.8647 IX.15 0.983199 9.74853 0 rs62122200 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.9854651 . . @ 339 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 344.0 . . . . . . . . . . -0.5788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.34 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.446 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.45 rs62122200 rs62122200 rs62122200 rs146326983 1 1538 255 1.I 0,0,255 +rs62122201 19 55359292 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359292 55359292 Chr19(GRCh37):g.55359292C>G *95264 *95264 NM_001291695.1:c.*95264C>G p.? p.? 8 604953 95408 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62122201 yes no Frequency 1 0.000000 0 0.000030 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 0.000000 0.000000 0.000155 2 0 0 0 0 2 0 0 0 65964 2374 7294 2894 2118 12928 34208 2524 1624 0.500000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Exomes transversion C G C>G 0.000 0.044 230 PASS . . . . . . . . . . . . . . . . 0.2408377 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 382.0 . . . . . . . . . . -0.3255 . . . . . . . . 5.511e-05 . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.39 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.032e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs612488 rs612488 rs612488 rs200980574 1 1538 10 1/0 0,181,243 +rs62122201 19 55359292 C G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55359292 55359292 Chr19(GRCh37):g.55359292C>G *131+34 *131+34 NM_001281971.1:c.*131+34C>G p.? p.? 7 7 604955 34 5' 86.8647 IX.15 0.983199 9.84992 86.8647 IX.15 0.983199 IX.01 0 rs62122201 yes no Frequency 1 0.000000 0 0.000030 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 0.000000 0.000000 0.000155 2 0 0 0 0 2 0 0 0 65964 2374 7294 2894 2118 12928 34208 2524 1624 0.500000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Exomes transversion C G C>G 0.000 0.044 230 PASS . . . . . . . . . . . . . . . . 0.2408377 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 382.0 . . . . . . . . . . -0.3255 . . . . . . . . 5.511e-05 . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.39 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.032e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs612488 rs612488 rs612488 rs200980574 1 1538 10 1/0 0,181,243 +rs112305589 19 55359371 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359371 55359371 Chr19(GRCh37):g.55359371A>G *95343 *95343 NM_001291695.1:c.*95343A>G p.? p.? 8 604953 95487 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 New Acceptor Site 55359372 2.18232 0.004404 77.8477 rs112305589 no no 0 0.000000 0 transition A G A>G 0.000 -0.037 181 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon9:c.A864G:p.Q288Q UNKNOWN . . 0.115555555 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 450.0 . . . . . . . . . . -0.2876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown synonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.45 0.31 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.141 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . 0.14 . . rs112305589 rs112305589 1 1538 10 1/0 0,163,255 +rs112305589 19 55359371 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359371 55359371 Chr19(GRCh37):g.55359371A>G *146 *146 NM_001281971.1:c.*146A>G p.? p.? 8 604955 15 3' 90.5732 8.98866 0.980106 11.0741 90.5732 8.98866 0.978393 X.21 -0.00058259 New Acceptor Site 55359372 2.18232 0.004404 77.8477 rs112305589 no no 0 0.000000 0 transition A G A>G 0.000 -0.037 181 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon9:c.A864G:p.Q288Q UNKNOWN . . 0.115555555 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 450.0 . . . . . . . . . . -0.2876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown synonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.45 0.31 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.141 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . 0.14 . . rs112305589 rs112305589 1 1538 10 1/0 0,163,255 +rs62122202 19 55359404 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359404 55359404 Chr19(GRCh37):g.55359404T>A *95376 *95376 NM_001291695.1:c.*95376T>A p.? p.? 8 604953 95520 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62122202 no no 0 0.000000 0 transversion T A T>A 0.000 -1.328 227 PASS . . . . . . . . . . . . . . . . 0.23243243 . . @ 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 555.0 . . . . . . . . . . -0.4231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.71 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*6T>A uc002qhm.1:c.*6T>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs610020 rs610020 rs610020 rs143499771 1 1538 10 1/0 0,164,239 +rs62122202 19 55359404 T A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359404 55359404 Chr19(GRCh37):g.55359404T>A *179 *179 NM_001281971.1:c.*179T>A p.? p.? 8 604955 48 3' 90.5732 8.98866 0.980106 11.0741 90.5732 8.98866 0.980106 11.1274 0 rs62122202 no no 0 0.000000 0 transversion T A T>A 0.000 -1.328 227 PASS . . . . . . . . . . . . . . . . 0.23243243 . . @ 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 555.0 . . . . . . . . . . -0.4231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.71 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*6T>A uc002qhm.1:c.*6T>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs610020 rs610020 rs610020 rs143499771 1 1538 10 1/0 0,164,239 +rs74623998 19 55359426 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359426 55359426 Chr19(GRCh37):g.55359426A>G *95398 *95398 NM_001291695.1:c.*95398A>G p.? p.? 8 604953 95542 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs74623998 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136 16 6 2 0 0 100 8 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 257 Genomes transition A G A>G 0.000 -0.117 254 PASS . . . . . . . . . . . . . . . . 0.31669536 . . @ 184 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 581.0 . . . . . . . . . . -0.2863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.56 0.71 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*28A>G uc002qhm.1:c.*28A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.065 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.065 . . rs74623998 rs200936965 1 1538 10 1/0 0,170,220 +rs74623998 19 55359426 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359426 55359426 Chr19(GRCh37):g.55359426A>G *201 *201 NM_001281971.1:c.*201A>G p.? p.? 8 604955 70 3' 90.5732 8.98866 0.980106 11.0741 90.5732 8.98866 0.980106 XI.92 0 rs74623998 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136 16 6 2 0 0 100 8 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 257 Genomes transition A G A>G 0.000 -0.117 254 PASS . . . . . . . . . . . . . . . . 0.31669536 . . @ 184 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 581.0 . . . . . . . . . . -0.2863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.56 0.71 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*28A>G uc002qhm.1:c.*28A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.065 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.065 . . rs74623998 rs200936965 1 1538 10 1/0 0,170,220 +rs201527316 19 55359436 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359436 55359436 Chr19(GRCh37):g.55359436G>C *95408 *95408 NM_001291695.1:c.*95408G>C p.? p.? 8 604953 95552 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55359449 0.000639 72.1951 0.266715 0.001189 72.4856 rs139032132 no no 0 0.000000 0 transversion G C G>C 0.000 -0.037 181 PASS . . . . . . . . . . . . . . . . 0.11557789 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 597.0 . . . . . . . . . . -0.2861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0024 . . . 0.63 0.69 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*38G>C uc002qhm.1:c.*38G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs78931759 rs139032132 1 1538 10 1/0 0,150,255 +rs201527316 19 55359436 G C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359436 55359436 Chr19(GRCh37):g.55359436G>C *211 *211 NM_001281971.1:c.*211G>C p.? p.? 8 604955 80 3' 90.5732 8.98866 0.980106 11.0741 90.5732 8.98866 0.980106 11.0391 0 Cryptic Acceptor Strongly Activated 55359449 0.000639 72.1951 0.266715 0.001189 72.4856 rs139032132 no no 0 0.000000 0 transversion G C G>C 0.000 -0.037 181 PASS . . . . . . . . . . . . . . . . 0.11557789 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 597.0 . . . . . . . . . . -0.2861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0024 . . . 0.63 0.69 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*38G>C uc002qhm.1:c.*38G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs78931759 rs139032132 1 1538 10 1/0 0,150,255 +rs655534 19 55363896 A C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55363896 55363896 Chr19(GRCh37):g.55363896A>C 355+159 355+159 NM_006737.3:c.355+159A>C p.? p.? 3 3 604947 159 5' 84.7886 7.40564 0.793383 6.98053 84.7886 7.40564 0.793383 6.98053 0 rs655534 yes no Frequency/HapMap 2 0.000000 0 transversion A C A>C 0.000 0.690 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.2300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.05 182 . . KIR3DL2 . . . . . . 882 0.0135742 64976 881 0.0146868 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HOM . . 0.359 0.326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.36 rs655534 rs655534 rs655534 rs138595906 1 1538 255 1.I 0,0,255 +rs200984382 19 55370651 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55370651 55370651 Chr19(GRCh37):g.55370651T>C 1000+67 1000+67 NM_006737.3:c.1000+67T>C p.? p.? 6 6 604947 67 5' 87.1266 10.0978 0.986775 8.75869 87.1266 10.0978 0.986775 8.59551 0 rs200984382 no no 0 0.000000 0 transition T C T>C 0.004 -0.844 219 PASS . . . . . . . . . . . . . . . . 0.21052632 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . -0.7240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.18 182 . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs2295804 rs2295804 rs2295804 rs200984382 1 1538 10 1/0 0,204,255 +. 19 55377176 G C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377176 55377176 Chr19(GRCh37):g.55377176G>C 1001-84 1001-84 NM_006737.3:c.1001-84G>C p.? p.? 7 6 604947 -84 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.36965 0 Cryptic Acceptor Strongly Activated 55377193 0.000715 65.9404 0.400708 0.000794 65.9404 transversion G C G>C 0.000 -0.360 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.3942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 19 55377180 C G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377180 55377180 Chr19(GRCh37):g.55377180C>G 1001-80 1001-80 NM_006737.3:c.1001-80C>G p.? p.? 7 6 604947 -80 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.30131 0 New Acceptor Site 55377181 2.10438 0.001902 67.1573 55377179 -10.1471 transversion C G C>G 0.004 0.609 175 PASS . . . . . . . . . . . . . . . . 0.104477614 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.2935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 19 55377184 T G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377184 55377184 Chr19(GRCh37):g.55377184T>G 1001-76 1001-76 NM_006737.3:c.1001-76T>G p.? p.? 7 6 604947 -76 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.45469 0 55377186 -25.7487 transversion T G T>G 0.000 -1.167 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.5210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +. 19 55377188 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377188 55377188 Chr19(GRCh37):g.55377188T>C 1001-72 1001-72 NM_006737.3:c.1001-72T>C p.? p.? 7 6 604947 -72 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.14292 0 55377190 -24.7594 transition T C T>C 0.004 0.528 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.2887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs73618370 19 55377225 G A - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377225 55377225 Chr19(GRCh37):g.55377225G>A 1001-35 1001-35 NM_006737.3:c.1001-35G>A p.? p.? 7 6 604947 -35 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.54693 0 rs73618370 yes no Frequency/1000G 2 0.000000 0 transition G A G>A 0.000 0.690 230 PASS . . . . . . . . . . . . . . . . 0.24210526 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.2264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.18 0.18 182 . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs796734062 19 55377249 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377249 55377249 Chr19(GRCh37):g.55377249T>C 1001-11 1001-11 NM_006737.3:c.1001-11T>C p.? p.? 7 6 604947 -11 3' 88.7953 9.96754 0.971014 9.36965 84.9839 9.02292 0.957617 VII.24 -0.0504966 rs796734062 no no 0 0.000000 0 transition T C T>C 0.323 0.609 235 PASS . . . . . . . . . . . . . . . . 0.26041666 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.1272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs371490654 19 55377255 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution splice site GRCh37 55377255 55377255 Chr19(GRCh37):g.55377255T>C 1001-5 1001-5 NM_006737.3:c.1001-5T>C p.? p.? 7 6 604947 -5 3' 88.7953 9.96754 0.971014 9.36965 85.2497 9.84592 0.970786 9.42093 -0.0174555 rs371490654 yes no Frequency 1 0.000000 0 COSM5765206 Large intestine 0.000418 2392 transition T C T>C 0.740 0.609 248 PASS . . . . . . . . . . . . . . . . 0.30107528 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . 0.0259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.23 182 . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +rs796466301 19 55377265 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution missense exon GRCh37 55377265 55377265 Chr19(GRCh37):g.55377265T>C 1006 1006 NM_006737.3:c.1006T>C p.Cys336Arg p.Cys336Arg 7 604947 6 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.974784 9.52675 0.00129418 Cryptic Donor Weakly Activated 55377259 7.33051 0.631159 77.1304 7.90757 0.775918 71.3518 rs796466301 no no 0 0.000000 0 COSM5765149 Large intestine 0.000418 2392 transition T C T>C 0.024 -1.086 C Cys TGC 0.552 R Arg CGC 0.190 336 7 2 Mouse -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 244.82 24.82 Tolerated 0.32 III.34 239 PASS . . . . . . . . . . . . . . . . 0.27173913 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.036 . . 92.0 . . . . . . . . . . -1.7288 -1.790 -1.729 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.104 @ . . . . . . . . KIR3DL2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.002 . . 0.359 . . . 0.011 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.263 . . . . . . . 0.094 . HET 0.14 . . . . . . . . . . . . . . . . 0.609 -0.763 . 0.150000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.126 -1.126000 . . 0.150000 . . 1.0E-239 0.000 0.063 . 0.016 0.005 . 0.021 . 0.007 -1.126 -1.859 . . . . . 1 1538 10 1/0 0,245,255 +rs540202245 19 55377853 G C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution synonymous exon GRCh37 55377853 55377853 Chr19(GRCh37):g.55377853G>C 1134 1134 NM_006737.3:c.1134G>C p.Ala378= p.Ala378Ala 8 604947 -25 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.86443 0 rs540202245 yes no Frequency/1000G 2 0.000000 0 COSM5764755 Large intestine 0.000418 2392 transversion G C G>C 0.000 -0.440 A Ala GCG 0.107 A Ala GCC 0.403 378 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . . . . . . . . . -0.2836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . . . . . . KIR3DL2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +. 19 55377871 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution synonymous exon GRCh37 55377871 55377871 Chr19(GRCh37):g.55377871T>C 1152 1152 NM_006737.3:c.1152T>C p.Asn384= p.Asn384Asn 8 604947 -7 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.965246 9.21804 -0.00177245 rs941565211 no no 0 0.000000 0 COSM5764741 Large intestine 0.000418 2392 transition T C T>C 0.000 -2.054 N Asn AAT 0.464 N Asn AAC 0.536 384 255 PASS . . . . . . . . . . . . . . . . 0.3647059 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.6920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 19 55377875 C G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution missense exon GRCh37 55377875 55377875 Chr19(GRCh37):g.55377875C>G 1156 1156 NM_006737.3:c.1156C>G p.Gln386Glu p.Gln386Glu 8 604947 -3 5' 89.9194 X.02 0.970406 8.75317 86.8647 IX.15 0.969702 6.99565 -0.0319516 rs973541788 no no 0 0.000000 0 COSM5764834 Large intestine 0.000418 2392 transversion C G C>G 0.000 -0.440 Q Gln CAG 0.744 E Glu GAG 0.583 386 7 2 Rat 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 353.86 0.00 Tolerated 1 III.37 255 PASS . . . . . . . . . . . . . . . . 0.34615386 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.037 . . 182.0 . . . . . . . . . . -1.8234 -1.813 -1.823 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.073 @ . . . . . . . . KIR3DL2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.001 . . 0.331 . . . 0.010 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 0 0.010 . . . . . 0.220 . 0.018 . HET 1 . . . . . . . . . . . . . VI.41 . . 1.V -1.86 . 1.000000 . 0.0001 0.016 . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.450 -0.450000 . . 1.000000 . . 1.0E-255 0.220 0.243 . 0.062 0.034 . 0.199 . 0.105 -0.450 -1.555 . . . . . 1 1538 10 1/0 0,221,255 +. 19 55377884 C T - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377884 55377884 Chr19(GRCh37):g.55377884C>T 1158+7 1158+7 NM_006737.3:c.1158+7C>T p.? p.? 8 8 604947 7 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.926641 8.13373 -0.0150332 rs920394404 no no 0 0.000000 0 COSM2885924 Large intestine 0.000418 2392 transition C T C>T 0.004 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.35751295 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 193.0 . . . . . . . . . . -0.4052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs779927406 19 55377891 G A - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377891 55377891 Chr19(GRCh37):g.55377891G>A 1158+14 1158+14 NM_006737.3:c.1158+14G>A p.? p.? 8 8 604947 14 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.43782 0 rs779927406 yes no Frequency 1 0.000000 0 0.000022 0.000042 0.000029 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000042 6 1 1 0 0 0 4 0 0 277110 24020 34418 10150 18868 30782 126648 25764 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.35106382 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . -0.6692 . . . . . . . . 3.947e-05 . . . 9.628e-05 3.306e-05 8.646e-05 0 0 2.373e-05 0 0 0.0001 1.883e-05 8.916e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.535e-05 2.031e-05 2.978e-05 0 0 0 2.686e-05 0 0 0 3.238e-05 0 0 0 0 6.69e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs748219676 19 55377903 C T - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377903 55377903 Chr19(GRCh37):g.55377903C>T 1158+26 1158+26 NM_006737.3:c.1158+26C>T p.? p.? 8 8 604947 26 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.93851 0 rs748219676 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000058 0.000065 0.000000 0.000000 0.000000 0.000065 3 0 0 0 1 2 0 0 0 246228 15304 33578 9850 17248 30782 111698 22282 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 100 Exomes transition C T C>T 0.000 -0.763 253 PASS . . . . . . . . . . . . . . . . 0.31443298 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 194.0 . . . . . . . . . . -0.5193 . . . . . . . . 2.368e-05 . . . 0 2.204e-05 0 0 0 0 0 0.0001 0 1.883e-05 0 0 0 0 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.218e-05 0 0 5.798e-05 0 0 0 6.497e-05 . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +. 19 55377908 A T - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377908 55377908 Chr19(GRCh37):g.55377908A>T 1158+31 1158+31 NM_006737.3:c.1158+31A>T p.? p.? 8 8 604947 31 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.91681 0 Cryptic Acceptor Weakly Activated 55377927 IV.25 0.283779 76.078 4.64321 0.348629 76.078 transversion A T A>T 0.000 -2.377 251 PASS . . . . . . . . . . . . . . . . 0.30851063 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . -0.9076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +. 19 55377909 C G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377909 55377909 Chr19(GRCh37):g.55377909C>G 1158+32 1158+32 NM_006737.3:c.1158+32C>G p.? p.? 8 8 604947 32 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.91298 0 transversion C G C>G 0.000 -3.588 249 PASS . . . . . . . . . . . . . . . . 0.30208334 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 192.0 . . . . . . . . . . -1.1564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +. 19 55377915 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377915 55377915 Chr19(GRCh37):g.55377915T>C 1158+38 1158+38 NM_006737.3:c.1158+38T>C p.? p.? 8 8 604947 38 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.98974 0 rs906419071 no no 0 0.000000 0 transition T C T>C 0.000 -0.440 242 PASS . . . . . . . . . . . . . . . . 0.28061223 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 196.0 . . . . . . . . . . -0.4353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +. 19 55377916 A AT - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 duplication intron GRCh37 55377917 55377918 Chr19(GRCh37):g.55377917dup 1158+40 1158+40 NM_006737.3:c.1158+40dup p.? p.? 8 8 604947 40 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.01688 0 Cryptic Acceptor Strongly Activated 55377927 IV.25 0.283779 76.078 6.21876 0.590577 79.291 T 255 Pass . . . . . . . . . . . . . . . . 0.27669904 . . . 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 206 . . . . . . . . . . . . . . . . . . . 7.893e-06 . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,56 +rs140252782 19 55377929 C T - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377929 55377929 Chr19(GRCh37):g.55377929C>T 1159-48 1159-48 NM_006737.3:c.1159-48C>T p.? p.? 9 8 604947 -48 3' 90.5732 9.36118 0.982185 XI.11 90.5732 9.36118 0.982185 XI.53 0 55377932 -13.8503 rs140252782 no no 0 0.000000 0 transition C T C>T 0.000 0.044 254 PASS . . . . . . . . . . . . . . . . 0.31658292 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 199.0 . . . . . . . . . . -0.2812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.11 0.25 182 . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs140252782 rs140252782 1 1538 10 1/0 0,217,255 +. 19 55377934 A G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377934 55377934 Chr19(GRCh37):g.55377934A>G 1159-43 1159-43 NM_006737.3:c.1159-43A>G p.? p.? 9 8 604947 -43 3' 90.5732 9.36118 0.982185 XI.11 90.5732 9.36118 0.982185 11.764 0 rs1054856092 no no 0 0.000000 0 transition A G A>G 0.000 -0.602 251 PASS . . . . . . . . . . . . . . . . 0.30964467 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . . . . . . . . . -0.4802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs775896 19 55488180 C T - NLRP2 22948 NLR family pyrin domain containing 2 NM_001174081.2 1 3549 3189 NP_001167552.1 Q9NX02 substitution intron GRCh37 55488180 55488180 Chr19(GRCh37):g.55488180C>T 326-940 326-940 NM_001174081.2:c.326-940C>T p.? p.? 4 3 609364 -940 3' 93.5929 X.83 0.977913 9.66098 93.5929 X.83 0.977913 9.66098 0 rs775896 yes no Frequency/1000G 2 0.000000 0 transition C T C>T 0.016 -0.682 255 PASS 0.5 0.47 0.6 0.34 0.48 . . . . . . . . . . . 0.6875 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.5401 . . . . . . . . . . . . 0.45 0.3124 0.5 0 . 0.3679 0.3077 0.2894 0.45 0.3096 0.5 0.0417 . 0.3689 0.3077 0.2894 . . . . . . intronic intronic intronic . . . @ . . . 0.13 0.08 182 ENSG00000022556 NLRP2 NLRP2 . . . . . . 482 0.00741812 64976 404 0.0067349 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.370 0.384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.6 . . rs775896 rs775896 1 1538 10 1/0 0,255,255 +. 19 55488180 C CTT - NLRP2 22948 NLR family pyrin domain containing 2 NM_001174081.2 1 3549 3189 NP_001167552.1 Q9NX02 duplication intron GRCh37 55488197 55488198 Chr19(GRCh37):g.55488196_55488197dup 326-924 326-923 NM_001174081.2:c.326-924_326-923dup p.? p.? 4 3 609364 -922 3' 93.5929 X.83 0.977913 9.66098 93.5929 X.83 0.977913 9.66098 0 TT 255 Pass . . . . . . . . . . . . . . . . 0.29268292 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . . . . . 0 0.0064 0 0 . 0.0041 0 0.0075 0 0.0083 0 0.1667 . 0.0041 0 0.0075 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000022556 NLRP2 NLRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,53 +rs1654457 19 55574429 A C - RDH13 19978 Retinol dehydrogenase 13 (all-trans/9-cis) NM_001145971.1 -1 1931 996 NP_001139443.1 Q8NBN7 substitution 5'UTR GRCh37 55574429 55574429 Chr19(GRCh37):g.55574429A>C -29 -29 NM_001145971.1:c.-29T>G p.? p.? 1 -94 5' 83.5016 9.09532 0.985646 XI.68 83.5016 9.09532 0.985646 XI.68 0 rs1654457 yes no Frequency 1 A 0.000000 0 0.004089 0.016883 0.002176 0.000000 0.000000 0.000836 0.000707 0.000210 0.000795 0.016883 173 151 4 0 0 2 14 1 1 42310 8944 1838 1254 2064 2392 19790 4770 1258 0.000095 0.000447 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 855 44 154 7 381 43 167 43 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.037 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 87.0 . . . . . . . . . . 0.6342 . . . . . . . . 1.991e-03 . . . 0.0210 0.0025 0 0 0 0.0022 0 0 0.0312 0.0025 0 0 0 0.0018 0 0 . . . . . . UTR5 ncRNA_exonic UTR5 . . . @ . . . 0.24 0.34 182 ENSG00000160439 AK122764 RDH13 . . NM_001145971:c.-29T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . 0.109 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0275 0.0017 0.0010 0 0 0 0.0014 0 0.0008 0.0164 0.0051 0.0037 0 0 0.0003 0.0004 0.0011 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.11 rs1654457 rs1654457 rs1654457 rs1654457 1 1538 10 1/0 0,232,255 +rs138664823 19 55645419 G A - TNNT1 11948 Troponin T1, slow skeletal type NM_003283.5 -1 1259 837 NP_003274.3 P13805 substitution intron GRCh37 55645419 55645419 Chr19(GRCh37):g.55645419G>A 750+15 750+15 NM_003283.5:c.750+15C>T p.? p.? 12 12 191041 15 5' 87.2541 7.65636 0.993659 14.791 87.2541 7.65636 0.993659 14.5696 0 rs138664823 yes no Frequency/1000G 2 uncertain_significance,likely_benign 0.000000 0 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000879 0.000295 0.000760 0.000000 0.000000 0.000066 0.001495 0.000078 0.002655 0.001495 241 7 26 0 0 2 187 2 17 274272 23730 34216 10040 18794 30490 125098 25500 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 241 7 26 0 0 2 187 2 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4403 12993 10 1 11 0.00116279 0.000227066 0.000845894 0.00116279 0.000227066 0.000845894 33 RCV000350860.1|RCV000437985.1 germline|germline clinical testing|clinical testing VUS|Likely benign 1|1 Nemaline Myopathy, Recessive|not specified transition C T C>T 0.000 -0.117 255 PASS 0.002 0.0009 . . 0.0013 0.0015 0.0004 . . . . . . . . . 0.60194176 . . germline 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000350860.1 . MedGen CN239479 2 . . . 103.0 . . . 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . -0.0171 . . . . . . . . 7.661e-04 . . . 0.0003 0.0008 0.0022 0 0 0.0011 0.0016 0 0.0004 0.0008 0.0023 0 0 0.0010 0.0017 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.43 0.34 182 ENSG00000105048 TNNT1 TNNT1 . . . . . . 68 0.00104654 64976 66 0.00110026 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138664823 . . . . . . . . . . . . . . . . . . . . . . . 0.000846 . . . . . 0.0003 0.0009 0.0008 0 0 9.088e-05 0.0015 0.0031 6.56e-05 0.0003 0.0007 0 0 0 0 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs138664823 rs138664823 1 1538 10 1/0 0,255,255 +rs35651406 19 56011279 C T - SSC5D 26641 Scavenger receptor cysteine rich domain containing (5 domains) NM_001144950.1 1 4910 4722 NP_001138422.1 A1L4H1 substitution missense exon GRCh37 56011279 56011279 Chr19(GRCh37):g.56011279C>T 1802 1802 NM_001144950.1:c.1802C>T p.Ala601Val p.Ala601Val 10 97 3' 86.1909 11.1175 0.926703 X.73 86.1909 11.1175 0.926703 X.73 0 rs35651406 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.004575 0.002075 0.000807 0.000117 0.000000 0.000000 0.008836 0.005739 0.003678 0.008836 836 34 20 1 0 0 647 116 18 182726 16386 24794 8540 11856 22822 73222 20212 4894 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 1 0 0 0 0 0 1 0 0 834 34 20 1 0 0 645 116 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3157 1383 4540 25 1 26 0.00785669 0.000722543 0.00569426 0.00785669 0.000722543 0.00569426 88 transition C T C>T 0.087 -0.117 A Ala GCC 0.403 V Val GTC 0.240 601 11 6 Cape rock hyrax 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.11 IV.32 good 5.531E-1 0.07068 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.5441176 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.210 . . 68.0 . . . 0.0007 0.0057 0.0079 0.0007 0.0057 0.0079 . -1.5006 -1.502 -1.501 c . . . . . 3.767e-03 . . . 0.0009 0.0035 0 0 0 0.0080 0 0 0 0.0025 0 0 0.0055 0.0064 0.0056 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.016 . . exonic exonic exonic . . 0.052 0.0006 . . . 0.13 0.32 182 ENSG00000179954 SSC5D SSC5D . . . 0.050 0.148 . 501 0.00771054 64976 498 0.00830194 59986 Likely_benign . 0 . . . . . . T 0.093 0.004 . . 37 . 0.009 . . 0.475 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.119 . . 0.112 . . . . . . 0 0.367 . . . . . 0.156 . 0.049 . HET 0 rs35651406 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 V.95 0.0 . 5.IV -2.96 . 0.550000 A1L4H1 . . . 0.005694 . 0.087 . . . 0.0016 0.0046 0.0008 0.0001 0 0.0059 0.0094 0.0028 0 0.0025 0.0047 0.0012 0 0 0.0049 0.0065 0.0071 . . 0.283 . -0.598 -0.598000 . . 0.550000 . . 1.0E-255 0.000 0.063 . 0.204 0.042 . 0.042 . 0.043 -0.598 0.871 0.0079 rs35651406 rs35651406 rs35651406 rs35651406 1 1538 10 1/0 0,255,255 +rs199710418 19 56312981 G A - NLRP11 22945 NLR family, pyrin domain containing 11 NM_145007.3 -1 4041 3102 NP_659444.2 P59045 substitution missense exon GRCh37 56312981 56312981 Chr19(GRCh37):g.56312981G>A 2128 2128 NM_145007.3:c.2128C>T p.His710Tyr p.His710Tyr 7 609664 -44 5' 92.583 10.0326 0.991256 6.80785 92.583 10.0326 0.991256 6.22916 0 rs199710418 yes no Frequency 1 G 0.000000 0 0.000108 0.000000 0.000000 0.000000 0.000000 0.000000 0.000213 0.000039 0.000309 0.000213 30 0 0 0 0 0 27 1 2 277192 24034 34420 10152 18870 30782 126676 25794 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 27 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 143 transition C T C>T 0.307 1.497 H His CAT 0.413 Y Tyr TAT 0.438 710 12 4 Rabbit 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 1 II.89 bad 4.766E-3 0.005259 255 PASS . . . . . . . . . . . . . . . . 0.4722222 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.017 . . 72.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.6289 -0.718 -0.629 c . . . . . 1.263e-04 . . . 0 9.921e-05 0 0 0 0.0002 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.134 . . exonic exonic exonic . . 0.262 @ . . . 0.41 0.42 182 ENSG00000179873 NLRP11 NLRP11 . . . 0.111 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.107 . . 0.257 . . . 0.133 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.342 . . 0.370 . . . . . . 0 . . . . . . 0.280 . 0.347 . HET 0.23 rs199710418 . . . . . . . . . . . . VII.56 0.0 . 2.XI 2.XI . 0.040000 . . . . 0.000077 . 0.118 . . 2.XI 0 0.0001 0 0 0 4.484e-05 0.0002 0.0002 0 0 0.0002 0 0 0 0 0.0003 0.0010 . . 0.175 . 1.470 1.470000 . . 0.040000 . . 1.0E-255 0.027 0.200 . 0.163 0.040 . 0.163 . 0.294 1.470 0.150 0.0001 . . rs199710418 rs199710418 1 1538 10 1/0 0,255,255 +. 19 56904509 T TAA - ZNF582 26421 Zinc finger protein 582 NM_001320371.1 -1 3128 1647 NP_001307300.1 duplication intron GRCh37 56904509 56904510 Chr19(GRCh37):g.56904510_56904511dup 13+78 13+79 NM_001320371.1:c.13+78_13+79dup p.? p.? 1 1 615600 79 5' 81.429 5.557 0.873063 3.01054 81.429 5.557 0.873063 3.05656 0 0.005981 0.014586 0.003534 0.000000 0.011524 0.000000 0.000734 0.004021 0.000000 0.014586 146 111 2 0 18 0 9 6 0 24410 7610 566 250 1562 0 12264 1492 666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4115 1667 75 16 632 0 1538 82 105 0 0 0 0 0 0 0 0 0 PASS 38 Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.375 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000018869 ZNF582 ZNF582 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv912516 . . . . . . . . . . . . . . . 0.0146 0.0060 0.0035 0 0.0115 0.0040 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,43 +. 19 56904509 T TAA - ZNF582-AS1 25213 ZNF582 antisense RNA 1 (head to head) NR_037160.1 1 1673 0 duplication upstream GRCh37 56904522 56904523 Chr19(GRCh37):g.56904521_56904522dup -524 -523 NR_037160.1:n.-524_-523dup p.? p.? 1 -900 5' 78.7929 5.44927 0.862505 0 78.7929 5.44927 0.862505 0 0 0.005981 0.014586 0.003534 0.000000 0.011524 0.000000 0.000734 0.004021 0.000000 0.014586 146 111 2 0 18 0 9 6 0 24410 7610 566 250 1562 0 12264 1492 666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4115 1667 75 16 632 0 1538 82 105 0 0 0 0 0 0 0 0 0 PASS 38 Genomes AA 255 Pass . . . . . . . . . . . . . . . . 0.375 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000018869 ZNF582 ZNF582 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv912516 . . . . . . . . . . . . . . . 0.0146 0.0060 0.0035 0 0.0115 0.0040 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,43 +rs189415202 19 57176624 A G - ZNF835 34332 Zinc finger protein 835 NM_001005850.2 -1 2774 1614 NP_001005850.2 Q9Y2P0 substitution intron GRCh37 57176624 57176624 Chr19(GRCh37):g.57176624A>G -58 -58 NM_001005850.2:c.-47-11T>C p.? p.? 2 1 -11 3' 95.6911 11.136 0.994316 14.9963 92.5944 X.61 0.993103 14.1272 -0.034838 rs189415202 yes no Frequency/1000G 2 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.004000 0.011500 0.002876 0.000470 0.002875 0.001113 0.000167 0.002183 0.004131 0.001619 0.005660 0.004131 761 11 91 11 3 63 509 38 35 264648 23400 31654 9880 17986 28864 123212 23468 6184 0.000030 0.000000 0.000063 0.000000 0.000000 0.000000 0.000032 0.000000 0.000323 4 0 1 0 0 0 2 0 1 753 11 89 11 3 63 505 38 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8180 3741 11921 20 1 21 0.00243902 0.000267237 0.0017585 0.00243902 0.000267237 0.0017585 26 transition T C T>C 0.000 -0.521 255 PASS . 0.0032 0.01 . 0.0026 . 0.0024 0.011 . 0.004 . . . . . . 0.5555556 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . INTRON(MODIFIER||||ZNF835|mRNA|CODING|NM_001005850|) 0.0003 0.0018 0.0024 0.0003 0.0018 0.0024 . -0.1896 . . . . . . . . 3.264e-03 . . . 0.0003 0.0033 0.0027 0.0002 0.0019 0.0049 0.0015 0.0027 0.0004 0.0033 0.0028 0.0001 0.0017 0.0047 0.0030 0.0027 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.22 0.12 182 ENSG00000127903 ZNF835 ZNF835 . . . . . . 205 0.00315501 64976 193 0.00321742 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189415202 . . . . . . . . . . . . . . . . . . . . 0 0.022 Name\x3dnsv912521 0.001758 . . . . . 0.0003 0.0030 0.0029 0.0011 0.0002 0.0015 0.0043 0.0065 0.0022 0.0008 0.0020 0.0024 0 0 0.0026 0.0029 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189415202 rs189415202 1 1538 10 1/0 0,255,255 +rs149822437 19 57335015 C T - PEG3 8826 Paternally expressed 3 NM_001146186.1 -1 8716 4767 NP_001139658.1 Q9GZU2 substitution missense exon GRCh37 57335015 57335015 Chr19(GRCh37):g.57335015C>T 427 427 NM_001146186.1:c.427G>A p.Asp143Asn p.Asp143Asn 2 601483 33 3' 72.8903 5.1644 0.360449 7.71101 72.8903 5.1644 0.360449 7.36857 0 Transcription regulator SCAN rs149822437 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000000 0.001000 0.000000 0.006000 0.010100 0.002093 0.000167 0.001947 0.000493 0.000000 0.000065 0.002833 0.005002 0.002481 0.005002 575 4 67 5 0 2 352 129 16 274706 24014 34420 10144 18870 30782 124238 25790 6448 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 573 4 67 5 0 2 350 129 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8588 4402 12990 12 4 16 0.00139535 0.000907853 0.0012302 0.00139535 0.000907853 0.0012302 253 transition G A G>A 0.055 0.205 D Asp GAC 0.539 N Asn AAC 0.536 143 10 7 Rabbit 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 221.85 2.III Tolerated 0.11 IV.32 good 7.594E-1 0.01106 255 PASS . 0.0018 0.01 . 0.0026 . 0.0028 0.01 . 0.006 0.001 . . . . . 0.47311828 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.533 . @ . . . . . 1 0.766 . . 93.0 . . . 0.0009 0.0012 0.0014 0.0009 0.0012 0.0014 . -0.7684 -0.849 -0.768 c . . . . . 2.084e-03 . . . 0.0003 0.0017 0.0021 0 0.0084 0.0022 0.0014 6.06e-05 0.0003 0.0020 0.0021 0 0.0065 0.0026 0.0029 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.054 . . exonic exonic exonic . . 0.182 0.0028 . . . 0.21 0.22 182 . . . . . . 0.191 0.180 . 94 0.00144669 64976 80 0.00133364 59986 Likely_benign . 0 . 0.139 . . . . . . . . . 37 . 0.022 . . 0.372 . . . 0.339 . . . . . 1 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.432 . . 0.303 . . . . . . 0 0.165 . . . . . 0.120 . 0.015 . HET 0 rs149822437 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 IV.39 5.35E-4 . IV.29 0.88 . 0.000000 . . . Name\x3dnsv833884 0.001230 . 0.079 . . . 0.0002 0.0021 0.0019 0.0005 0 0.0051 0.0028 0.0027 6.497e-05 0.0001 0.0021 0.0036 0 0 0.0043 0.0030 0.0010 . . 0.133 . 0.224 0.224000 . . 0.000000 . . 1.0E-255 0.001 0.137 . 0.183 0.344 . 0.211 . 0.171 0.224 -0.233 0.01 . . rs149822437 rs149822437 1 1538 10 1/0 0,255,255 +rs149822437 19 57335015 C T - ZIM2 12875 Zinc finger, imprinted 2 NM_001146326.1 -1 2181 1584 NP_001139798.1 Q9NZV7 substitution missense exon GRCh37 57335015 57335015 Chr19(GRCh37):g.57335015C>T 49 49 NM_001146326.1:c.49G>A p.Asp17Asn p.Asp17Asn 5 33 3' 72.8903 5.1644 0.360449 7.71101 72.8903 5.1644 0.360449 7.36857 0 rs149822437 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000000 0.001000 0.000000 0.006000 0.010100 0.002093 0.000167 0.001947 0.000493 0.000000 0.000065 0.002833 0.005002 0.002481 0.005002 575 4 67 5 0 2 352 129 16 274706 24014 34420 10144 18870 30782 124238 25790 6448 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 573 4 67 5 0 2 350 129 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8588 4402 12990 12 4 16 0.00139535 0.000907853 0.0012302 0.00139535 0.000907853 0.0012302 253 transition G A G>A 0.055 0.205 D Asp GAC 0.539 N Asn AAC 0.536 17 11 3 Domestic ferret 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.46 III.42 good 5.208E-1 0.006696 255 PASS . 0.0018 0.01 . 0.0026 . 0.0028 0.01 . 0.006 0.001 . . . . . 0.47311828 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.533 . @ . . . . . 1 0.766 . . 93.0 . . . 0.0009 0.0012 0.0014 0.0009 0.0012 0.0014 . -0.7684 -0.849 -0.768 c . . . . . 2.084e-03 . . . 0.0003 0.0017 0.0021 0 0.0084 0.0022 0.0014 6.06e-05 0.0003 0.0020 0.0021 0 0.0065 0.0026 0.0029 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.054 . . exonic exonic exonic . . 0.182 0.0028 . . . 0.21 0.22 182 . . . . . . 0.191 0.180 . 94 0.00144669 64976 80 0.00133364 59986 Likely_benign . 0 . 0.139 . . . . . . . . . 37 . 0.022 . . 0.372 . . . 0.339 . . . . . 1 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.432 . . 0.303 . . . . . . 0 0.165 . . . . . 0.120 . 0.015 . HET 0 rs149822437 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 IV.39 5.35E-4 . IV.29 0.88 . 0.000000 . . . Name\x3dnsv833884 0.001230 . 0.079 . . . 0.0002 0.0021 0.0019 0.0005 0 0.0051 0.0028 0.0027 6.497e-05 0.0001 0.0021 0.0036 0 0 0.0043 0.0030 0.0010 . . 0.133 . 0.224 0.224000 . . 0.000000 . . 1.0E-255 0.001 0.137 . 0.183 0.344 . 0.211 . 0.171 0.224 -0.233 0.01 . . rs149822437 rs149822437 1 1538 10 1/0 0,255,255 +rs756247137 19 58018347 G A - ZNF773 30487 Zinc finger protein 773 NM_198542.2 1 2361 1329 NP_940944.1 Q6PK81 substitution missense exon GRCh37 58018347 58018347 Chr19(GRCh37):g.58018347G>A 884 884 NM_198542.2:c.884G>A p.Arg295Lys p.Arg295Lys 4 622 3' 96.7028 X.17 0.992115 XII.71 96.7028 X.17 0.992115 XII.71 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs756247137 yes no Frequency 1 G 0.000000 0 0.000018 0.000042 0.000000 0.000000 0.000000 0.000032 0.000024 0.000000 0.000000 0.000042 5 1 0 0 0 1 3 0 0 277198 24024 34420 10152 18856 30778 126708 25792 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6303403 Liver 0.000422 2371 transition G A G>A 0.134 0.690 R Arg AGA 0.205 K Lys AAA 0.425 295 11 11 Cow 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C25 0.00 26.00 Deleterious 0 III.67 175 PASS . . . . . . . . . . . . . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.284 . @ . . . . . 1 0.239 . . 67.0 . . . . . . . . . . -0.8291 -0.827 -0.829 c . . . . . 4.736e-05 . . . 9.628e-05 5.51e-05 0 0.0004 0 2.373e-05 0 6.06e-05 0.0001 4.708e-05 0 0.0003 0 1.84e-05 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.203 @ . . . 0.3 0.29 182 ENSG00000152439 ZNF773 ZNF773 . . . 0.039 0.144 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.019 . . 0.441 . . . 0.136 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.293 . . 0 0 0 0 0 0 . 0.151 . . 0.139 . . . . . . 3 0.096 . . . . . 0.219 . 0.182 . LowAF 0.38 rs756247137 . . . . . . . . . . . . 6.628 . ENST00000282292 I.24 I.24 . 0.150000 . . . . . . 0.131 . . . 6.536e-05 2.031e-05 0 0 0 0 2.686e-05 0 3.249e-05 0 0 0 0 0 0 0 0 . . 0.730 . 0.987 0.987000 . . 0.150000 . . 1.0E-175 0.000 0.063 . 0.468 0.672 . 0.021 . 0.085 0.987 -0.084 . rs61731276 rs61731276 rs61731276 rs61731276 1 1538 10 1/0 0,244,255 +rs143154031 19 58187958 G A - ZSCAN4 23709 Zinc finger and SCAN domain containing 4 NM_152677.2 1 2246 1302 NP_689890.1 Q8NAM6 substitution intron GRCh37 58187958 58187958 Chr19(GRCh37):g.58187958G>A 396+49 396+49 NM_152677.2:c.396+49G>A p.? p.? 3 3 613419 49 5' 70.8625 5.79242 0.826445 II.72 70.8625 5.79242 0.826445 1.99348 0 rs143154031 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.003128 0.000516 0.001327 0.008427 0.000000 0.001654 0.005041 0.000995 0.003704 0.008427 689 12 32 42 0 30 533 22 18 220284 23248 24112 4984 17094 18140 105740 22106 4860 0.000027 0.000000 0.000000 0.000401 0.000000 0.000000 0.000038 0.000000 0.000000 3 0 0 1 0 0 2 0 0 683 12 32 40 0 30 529 22 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4382 12932 40 6 46 0.00465658 0.00136737 0.00354446 0.00465658 0.00136737 0.00354446 37 transition G A G>A 0.000 -1.812 255 PASS 0.002 0.0027 . . 0.01 . 0.0014 0.0014 . 0.006 . . . . . . 0.578125 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||ZSCAN4|mRNA|CODING|NM_152677|) 0.0014 0.0035 0.0047 0.0014 0.0035 0.0047 . -0.4854 . . . . . . . . 2.871e-03 . . . 0.0008 0.0031 0.0010 0 0.0011 0.0052 0.0049 0.0014 0.0008 0.0027 0.0010 0 0.0012 0.0043 0.0034 0.0013 . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.52 0.5 182 ENSG00000180532 ZSCAN4 ZSCAN4 . . . . . . 265 0.00407843 64976 259 0.00431767 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143154031 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv912528 0.003544 . . . . . 0.0007 0.0030 0.0013 0.0085 0 0.0009 0.0048 0.0036 0.0017 0.0002 0.0037 0.0024 0.0066 0 0.0017 0.0065 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs143154031 rs143154031 1 1538 10 1/0 0,255,255 +. 19 58281364 G A - ZNF586 25949 Zinc finger protein 586 NM_017652.3 1 2220 1209 NP_060122.2 Q9NXT0 substitution intron GRCh37 58281364 58281364 Chr19(GRCh37):g.58281364G>A 36+118 36+118 NM_017652.3:c.36+118G>A p.? p.? 1 1 118 5' 89.8591 9.60237 0.987509 14.4513 89.8591 9.60237 0.987509 14.4513 0 rs951592740 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30746 8676 836 302 1622 0 14852 3478 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 35 Genomes transition G A G>A 0.024 0.367 255 PASS . . . . . . . . . . . . . . . . 0.44 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . I.91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000083828 . ZNF586 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.252e-05 0 0 0 0 6.733e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62129163 19 58320385 C T - ZNF552 26135 Zinc finger protein 552 NM_024762.3 -1 2352 1224 NP_079038.2 Q9H707 substitution missense exon GRCh37 58320385 58320385 Chr19(GRCh37):g.58320385C>T 247 247 NM_024762.3:c.247G>A p.Ala83Thr p.Ala83Thr 3 87 3' 97.1051 9.25055 0.99371 8.42581 97.1051 9.25055 0.99371 8.42581 0 Cryptic Acceptor Strongly Activated 58320381 1.15301 0.257005 78.5071 1.33457 0.332115 78.5071 Krueppel-associated box rs62129163 yes no Frequency 1 C 0.000000 0 0.000392 0.002760 0.000041 0.000000 0.000066 0.000313 0.000180 0.000000 0.000215 0.002760 75 51 1 0 1 6 15 0 1 191172 18480 24432 5222 15256 19196 83270 20662 4654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 75 51 1 0 1 6 15 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM2973159|COSM2973159 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.001133 747|3530 transition G A G>A 0.000 0.286 A Ala GCA 0.226 T Thr ACA 0.280 83 11 7 Horse 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 227.53 0.00 Tolerated 0.35 III.45 bad 1.194E-5 2.111E-5 229 PASS . . . . . . . . . . . ENSG00000178935:ENST00000391701:exon3:c.G247A:p.A83T . ZNF552:NM_024762:exon3:c.G247A:p.A83T . . 0.24074075 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.101 . @ . . . . . 1 0.121 . . 108.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A83T|ZNF552|mRNA|CODING|NM_024762|NM_024762.ex.3) . . . . . . . -1.3785 -1.459 -1.379 c . . . . . 3.721e-04 . . . 0.0119 0.0018 0.0023 0 0 0.0002 0 0.0003 0.0130 0.0015 0.0017 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.052 . . exonic exonic exonic . . 0.128 @ . . . 0.31 0.28 182 ENSG00000178935 ZNF552 ZNF552 . . . 0.086 0.160 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.029 . . 0.473 . . . 0.098 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.230 . . 0.198 . . . . . . 0 0.166 . . . . . 0.061 . 0.047 . HET 0.23 rs62129163 . . . . . . . . . . . . 3.1796 0.002166 ENST00000391701 0.982 -0.117 . 0.510000 . . . . . . 0.014 . . . 0.0034 0.0003 0 0 7.32e-05 0 0.0002 0.0003 0.0003 0.0020 0.0007 0.0012 0 0 0 0.0002 0 . . 0.522 . -0.022 -0.022000 . . 0.510000 . . 1.0E-229 0.000 0.063 . 0.108 0.024 . 0.004 . 0.272 -0.022 0.143 . rs62129163 rs62129163 rs62129163 rs62129163 1 1538 10 1/0 0,236,255 +rs544337361 19 58386508 C T - ZNF814 33258 Zinc finger protein 814 NM_001144989.1 -1 6283 2568 NP_001138461.1 B7Z6K7 substitution missense exon GRCh37 58386508 58386508 Chr19(GRCh37):g.58386508C>T 250 250 NM_001144989.1:c.250G>A p.Ala84Thr p.Ala84Thr 3 87 3' 97.1051 9.25055 0.99371 8.42581 97.1051 9.25055 0.99371 8.42581 0 Cryptic Acceptor Strongly Activated 58386504 1.15301 0.257005 78.5071 1.33457 0.332115 78.5071 Krueppel-associated box rs544337361 yes no Frequency/1000G 2 0.000000 0 0.017971 0.053000 0.002000 0.009900 0.003000 0.007200 0.000553 0.002605 0.000482 0.000000 0.000988 0.000371 0.000234 0.000000 0.000000 0.002605 93 46 10 0 14 6 17 0 0 168270 17656 20740 4028 14172 16172 72606 18812 4084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 46 10 0 14 6 17 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.924 A Ala GCA 0.226 T Thr ACA 0.280 84 12 3 Pig 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.22 3.I unknown 0.0 0.0 215 PASS . . . . . 0.053 0.018 0.0072 0.0099 0.003 0.002 ENSG00000204514:ENST00000435989:exon3:c.G250A:p.A84T ZNF814:uc002qqo.2:exon3:c.G250A:p.A84T ZNF814:NM_001144989:exon3:c.G250A:p.A84T . . 0.19827586 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.103 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A84T|ZNF814|mRNA|CODING|NM_001144989|NM_001144989.ex.3) . . . . . . . -1.5584 -1.676 -1.558 c . . . . . 4.441e-04 . . . 0.0053 0.0017 0 0.0043 0 0.0008 0 0.0009 0.0068 0.0018 0 0.0030 0 0.0015 0 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.074 . . exonic exonic exonic . . 0.031 0.0180 . . . 0.16 0.31 182 ENSG00000204514 ZNF814 ZNF814 . . . 0.001 0.084 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.034 . . 0.449 . . . 0.085 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.352 . . 0 0 0 0 0 0 . 0.284 . . 0.243 . . . . . . 0 0.184 . . . . . 0.099 . 0.012 . HET 0.28 rs544337361 . . . . . . . . . . . . IV.07 . . II.33 -4.67 . 0.550000 B7Z6K7 . . . . . 0.032 . . . 0.0020 0.0004 0.0004 0 0.0009 0 0.0002 0 0.0004 0.0034 0.0012 0.0024 0 0.0019 0 0.0003 0 . . 0.924 . -1.016 -1.016000 . . 0.550000 . . 1.0E-215 0.000 0.063 . 0.016 0.003 . 0.013 . 0.036 -1.016 -1.246 . rs62129163 rs62129163 rs62129163 rs62129163 1 1538 10 1/0 0,229,255 +rs141681057 19 58420660 T C - ZNF417 20646 Zinc finger protein 417 NM_152475.2 -1 4703 1728 NP_689688.2 Q8TAU3 substitution missense exon GRCh37 58420660 58420660 Chr19(GRCh37):g.58420660T>C 986 986 NM_152475.2:c.986A>G p.Tyr329Cys p.Tyr329Cys 3 823 3' 93.5595 7.99387 0.972371 7.1591 93.5595 7.99387 0.972371 7.1591 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs141681057 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.001000 0.003000 0.002000 0.002900 0.000612 0.000425 0.000292 0.000099 0.001721 0.000812 0.000685 0.000159 0.000000 0.001721 168 10 10 1 32 25 86 4 0 274414 23544 34272 10140 18592 30770 125612 25082 6402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 168 10 10 1 32 25 86 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4186105|COSM4186105 Liver|Kidney 0.000844|0.000578 2371|1729 transition A G A>G 1.000 2.788 Y Tyr TAT 0.438 C Cys TGT 0.448 329 11 3 Sumatran orangutan -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 193.72 0.00 Tolerated 1 III.58 good 7.383E-1 0.001717 193 PASS . . . . . . 0.0016 0.0029 0.003 0.002 0.001 . . . . . 0.14102565 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.000 . . 156.0 . . . . . . . . . . -1.6986 -1.547 -1.699 c . . . . . 4.388e-03 . . . 0.0025 0.0039 0.0024 0.0080 0.0003 0.0054 0.0098 0.0012 0.0015 0.0016 0.0019 0.0046 0.0003 0.0013 0.0043 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.196 0.0016 . . . 0.32 0.32 182 ENSG00000173480 ZNF417 ZNF417 . . . 0.632 0.220 . 21 0.000323196 64976 18 0.00030007 59986 Likely_benign . 0 . . . . . . T 0.017 0.001 . . 37 . 0.001 . . 0.381 . . . 0.000 0.265 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.283 . 0.232 . LowAF 1 rs141681057 . . . . . . . . . . . . VII.18 5.35E-4 . II.21 1.XII . 1.000000 Q8TAU3 . . . . . 0.030 . . . 0.0003 0.0006 0.0003 0.0001 0.0014 0.0001 0.0007 0 0.0008 0.0006 0.0009 0 0 0.0058 0.0003 0.0009 0 . . 0.730 . 0.271 0.271000 . . 1.000000 . . 1.0E-193 0.993 0.376 . 0.128 0.123 . 0.461 . 0.089 0.271 -0.672 . . . rs141681057 rs141681057 1 1538 10 1/0 0,210,255 +rs202194085 19 58420682 T C - ZNF417 20646 Zinc finger protein 417 NM_152475.2 -1 4703 1728 NP_689688.2 Q8TAU3 substitution missense exon GRCh37 58420682 58420682 Chr19(GRCh37):g.58420682T>C 964 964 NM_152475.2:c.964A>G p.Arg322Gly p.Arg322Gly 3 801 3' 93.5595 7.99387 0.972371 7.1591 93.5595 7.99387 0.972371 7.1591 0 Zinc finger, C2H2 rs202194085 yes no Frequency 1 C 0.000000 0 0.004552 0.001744 0.004338 0.000815 0.010923 0.003464 0.002300 0.018673 0.004696 0.018673 1164 39 134 8 174 104 274 403 28 255708 22358 30892 9820 15930 30020 119144 21582 5962 0.000023 0.000000 0.000000 0.000000 0.000000 0.000067 0.000017 0.000000 0.000335 3 0 0 0 0 1 1 0 1 1158 39 134 8 174 102 272 403 26 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426716|COSM5426716|COSM5426716 Liver|Large intestine|Haematopoietic and lymphoid tissue 0.000422|0.000896|0.000283 2371|2231|3530 transition A G A>G 0.976 1.335 R Arg AGG 0.207 G Gly GGG 0.250 322 11 3 Dolphin -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 131.18 0.00 Tolerated 0.3 III.58 good 9.776E-1 0.1386 213 PASS . . . . . . . . . . . . . . . . 0.19277108 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.278 . @ . . . . . 1 0.138 . . 166.0 . . . . . . . . . . -1.0519 -1.180 -1.052 c . . . . . 6.622e-03 . . . 0.0031 0.0056 0.0024 0.0120 0.0106 0.0065 0.0128 0.0034 0.0023 0.0035 0.0018 0.0079 0.0094 0.0027 0.0087 0.0034 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.199 . . exonic exonic exonic . . 0.198 @ . . . 0.33 0.36 182 ENSG00000173480 ZNF417 ZNF417 . . . 0.024 0.136 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.259 . . 0.242 . . . 0.702 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.808 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.344 . . . . . 0.286 . 0.012 . HET 0.08 rs202194085 0.022 0.014 . . . . . . . . . . VII.67 0.0 . II.21 I.15 . 0.070000 Q8TAU3 . . . . . 0.199 . . . 0.0014 0.0042 0.0043 0.0007 0.0095 0.0191 0.0017 0.0047 0.0035 0.0024 0.0078 0.0043 0.0038 0.028 0.0164 0.0075 0.0046 . . 0.730 . -0.231 -0.231000 . . 0.070000 . . 1.0E-213 0.000 0.063 . 0.062 0.825 . 0.199 . 0.005 -0.231 -1.847 0.022 . . rs202194085 rs202194085 1 1538 10 1/0 0,212,255 +rs144049625 19 58871025 C A - ZNF497 23714 Zinc finger protein 497 NM_001207009.1 -1 3465 1497 NP_001193938.1 Q6ZNH5 substitution intron GRCh37 58871025 58871025 Chr19(GRCh37):g.58871025C>A -2024 -2024 NM_001207009.1:c.-14-2010G>T p.? p.? 2 1 -2010 3' 84.2134 14.262 0.99339 15.6394 84.2134 14.262 0.99339 15.6394 0 New Donor Site 58871027 1.91196 0.216774 62.4668 rs144049625 yes no Frequency/1000G 2 C 0.000000 0 0.011582 0.000800 0.036800 0.001000 0.012900 0.010100 0.007791 0.002523 0.015513 0.026490 0.000000 0.000000 0.011144 0.004587 0.015306 0.026490 241 22 13 8 0 0 167 16 15 30932 8720 838 302 1618 0 14986 3488 980 0.004149 0.000000 0.000000 0.000000 0.000000 0.000000 0.005988 0.000000 0.000000 1 0 0 0 0 0 1 0 0 239 22 13 8 0 0 165 16 15 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion G T G>T 0.008 0.690 255 PASS . 0.0046 0.02 . 0.01 0.0008 0.012 0.01 0.001 0.013 0.037 . . . . . 0.54545456 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.0491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0116 . . . 0.48 0.36 182 ENSG00000268230 ZNF497 ZNF497 . . . . . . 889 0.013682 64976 831 0.0138532 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs144049625 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0078 0.0155 0.0265 0 0.0046 0.0111 0.0153 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs144049625 rs144049625 1 1538 10 1/0 0,255,255 +rs574334204 19 58880710 A G - ZNF837 25164 Zinc finger protein 837 NM_138466.1 -1 1931 1596 NP_612475.1 Q96EG3 substitution 5'UTR GRCh37 58880710 58880710 Chr19(GRCh37):g.58880710A>G -11 -11 NM_138466.1:c.-11T>C p.? p.? 3 19 3' 87.3116 XII.82 0.954827 14.9516 87.3116 XII.82 0.958239 15.1612 0.00119114 rs574334204 yes no Frequency/1000G 2 A 0.000799 G 4 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.003978 0.001306 0.001685 0.000000 0.000000 0.001913 0.005945 0.004995 0.004115 0.005945 187 12 6 0 0 3 138 22 6 47012 9186 3560 574 3048 1568 23214 4404 1458 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000000 1 0 0 0 0 0 1 0 0 185 12 6 0 0 3 136 22 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.682 255 PASS . . . . . . 0.0008 . . 0.004 . . . . . . 0.43820226 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 89.0 . . . . . . . . . . -0.1974 . . . . . . . . 1.684e-03 . . . 0 0.0029 0 0 0 0.0049 0 0 0 0 0 0 0 0 . 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0008 . . . . . . ENSG00000152475 ZNF837 ZNF837 . . NM_138466:c.-11T>C . . . 255 0.00392453 64976 251 0.00418431 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs574334204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0040 0.0011 0 0 0.0044 0.0064 0.0021 0.0019 0.0014 0.0040 0.0036 0 0 0.0052 0.0057 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879474442 (chr19:59110798 C/T) 19 59110798 C T Not on a known gene +rs142429237 20 210048 T C - DEFB129 16218 Defensin, beta 129 NM_080831.3 1 698 552 NP_543021.1 Q9H1M3 substitution missense exon GRCh37 210048 210048 Chr20(GRCh37):g.210048T>C 188 188 NM_080831.3:c.188T>C p.Ile63Thr p.Ile63Thr 2 130 3' 95.0825 9.50825 0.957049 7.69681 95.0825 9.50825 0.957049 7.69681 0 rs142429237 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.004000 0.000000 0.002093 0.000624 0.002703 0.000099 0.000000 0.001366 0.003047 0.000815 0.003407 0.003047 580 15 93 1 0 42 386 21 22 277088 24030 34400 10150 18860 30740 126696 25754 6458 0.000036 0.000000 0.000058 0.000000 0.000000 0.000065 0.000047 0.000000 0.000000 5 0 1 0 0 1 3 0 0 570 15 91 1 0 40 380 21 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4404 12974 30 2 32 0.00348837 0.000453926 0.0024604 0.00348837 0.000453926 0.0024604 100 transition T C T>C 0.031 2.304 I Ile ATT 0.356 T Thr ACT 0.243 63 10 10 Elephant -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C65 0.00 89.28 Deleterious 0 III.33 bad 2.601E-4 0.0003309 255 PASS . 0.0018 . . 0.01 . 0.001 . . 0.004 0.001 ENSG00000125903:ENST00000246105:exon2:c.T188C:p.I63T DEFB129:uc002wda.3:exon2:c.T188C:p.I63T DEFB129:NM_080831:exon2:c.T188C:p.I63T . . 0.52272725 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.440 . @ . . . . . 1 0.563 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I63T|DEFB129|mRNA|CODING|NM_080831|NM_080831.ex.2) 0.0005 0.0025 0.0035 0.0005 0.0025 0.0035 . 0.0197 -0.137 0.020 c . . . . . 2.013e-03 . . . 0.0007 0.0020 0.0036 0 0.0013 0.0024 0.0028 0.0013 0.0007 0.0020 0.0037 0 0.0014 0.0024 0.0029 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.544 0.0010 . . . 0.21 0.32 182 ENSG00000125903 DEFB129 DEFB129 . . . 0.031 0.140 . 132 0.00203152 64976 127 0.00211716 59986 Uncertain_significance . 0 . 0.387 . . . . T 0.264 0.010 . . 37 . 0.469 . . 0.412 . . . 0.534 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.823 . . 0 0 0 0 0 0 . 0.899 . . 0.719 . . . . . . 0 0.912 . . . . . 0.438 . 0.747 . HET 0 rs142429237 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 X.66 5.35E-4 ENST00000246105 IV.51 IV.51 . 0.000000 Q9H1M3 . . . 0.002460 . 0.191 . . IV.51 0.0005 0.0021 0.0027 0.0001 0 0.0009 0.0030 0.0035 0.0014 0.0008 0.0022 0.0024 0 0 0.0003 0.0036 0.0031 . . 0.133 . 2.257 2.257000 . . 0.000000 . . 1.0E-255 0.164 0.236 . 0.168 0.289 . 0.476 . 0.807 2.257 0.614 0.01 . . rs142429237 rs142429237 1 1538 10 1/0 0,255,255 +rs867273008 20 400525 G A - RBCK1 15864 RANBP2-type and C3HC4-type zinc finger containing 1 NM_031229.3 1 3950 1533 NP_112506.2 Q9BYM8 substitution intron GRCh37 400525 400525 Chr20(GRCh37):g.400525G>A 756+150 756+150 NM_031229.3:c.756+150G>A p.? p.? 6 6 610924 150 5' 79.7784 8.06623 0.754291 IX.79 79.7784 8.06623 0.754291 IX.79 0 rs867273008 no no 0 0.000000 0 0.001018 0.003629 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003629 31 31 0 0 0 0 0 0 0 30442 8542 830 288 1608 0 14750 3456 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 31 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.984 1.255 255 PASS . . . . . . . . . . . . . . . . 0.45945945 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.6798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000125826 RBCK1 RBCK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0010 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 20 4854860 C CGT - SLC23A2 10973 Solute carrier family 23 (nucleobase transporters), member 2 NM_203327.1 -1 6962 1953 NP_976072.1 Q9UGH3 insertion intron GRCh37 4854860 4854861 Chr20(GRCh37):g.4854860_4854861insGT 946-123 946-122 NM_203327.1:c.946-123_946-122insAC p.? p.? 11 10 603791 -122 3' 79.4636 VII.38 0.801099 III.34 79.4636 VII.38 0.801099 III.34 0 AC 255 Pass . . . . . . . . . . . . . . . . 0.44827586 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000089057 SLC23A2 SLC23A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv912629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +. 20 4880132 GCTCAATGCCTTCTGC G - SLC23A2 10973 Solute carrier family 23 (nucleobase transporters), member 2 NM_203327.1 -1 6962 1953 NP_976072.1 Q9UGH3 deletion intron GRCh37 4880132 4880146 Chr20(GRCh37):g.4880132_4880146del 482+55 482+69 NM_203327.1:c.482+55_482+69del p.? p.? 6 6 603791 55 5' 90.3087 9.21919 0.816472 V.54 90.3087 9.21919 0.816472 5.46043 0 Cryptic Acceptor Weakly Activated 4880116 4.76755 0.505269 72.9433 5.18481 0.618544 72.9433 AGAAGGCATTGAGCT 255 Pass . . . . . . . . . . . . . . . . 0.39285713 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000089057 SLC23A2 SLC23A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +rs138793854 20 13140619 T A - SPTLC3 16253 Serine palmitoyltransferase long chain base subunit 3 NM_001349945.1 1 3742 1659 NP_001336874.1 Q9NUV7 substitution intron GRCh37 13140619 13140619 Chr20(GRCh37):g.13140619T>A 1416-31 1416-31 NM_001349945.1:c.1416-31T>A p.? p.? 12 11 611120 -31 3' 84.8834 8.50126 0.979289 10.1743 84.8834 8.50126 0.979289 10.1524 0 rs138793854 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.008200 0.000000 0.008000 0.002900 0.008235 0.001208 0.005178 0.076337 0.000000 0.018322 0.005695 0.007451 0.008009 0.076337 1412 22 83 391 0 273 483 130 30 171470 18216 16028 5122 11202 14900 84808 17448 3746 0.000163 0.000000 0.000000 0.002343 0.000000 0.000805 0.000000 0.000229 0.000000 14 0 0 6 0 6 0 2 0 1384 22 83 379 0 261 483 126 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8077 3564 11641 49 4 53 0.00603003 0.00112108 0.00453224 0.00603003 0.00112108 0.00453224 47 transversion T A T>A 0.000 0.044 255 PASS . 0.0032 0.01 . 0.01 . 0.0036 0.0029 . 0.008 0.0082 . . . . . 0.625 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . INTRON(MODIFIER||||SPTLC3|mRNA|CODING|NM_018327|) 0.0011 0.0045 0.006 0.0011 0.0045 0.006 . -0.4237 . . . . . . . . 5.820e-03 . . . 0.0012 0.0098 0.0037 0 0.0058 0.0121 0.0135 0.0186 0.0013 0.0081 0.0037 0 0.0054 0.0089 0.0130 0.0188 . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.42 0.33 182 ENSG00000172296 SPTLC3 SPTLC3 . . . . . . 265 0.00407843 64976 247 0.00411763 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138793854 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004532 . . . . . 0.0012 0.0091 0.0051 0.0784 0 0.0077 0.0060 0.0093 0.0183 0.0012 0.0039 0.0064 0.0414 0 0.0065 0.0045 0.0042 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138793854 rs138793854 1 1538 10 1/0 0,255,255 +. 20 17934791 C CT - SNX5 14969 Sorting nexin 5 NM_014426.3 -1 2345 1215 NP_055241.1 Q9Y5X3 duplication intron GRCh37 17934791 17934792 Chr20(GRCh37):g.17934792dup 268-31 268-31 NM_014426.3:c.268-31dup p.? p.? 4 3 605937 -30 3' 83.2663 7.82913 0.897588 5.97779 83.2663 7.82913 0.897588 5.37165 0 rs200601304 yes no Frequency/1000G 2 0.000000 0 0.003994 0.001500 0.003100 0.000000 0.008900 0.008600 0.008463 0.001709 0.008566 0.028654 0.000000 0.007914 0.009771 0.006275 0.012180 0.028654 2324 41 290 287 0 240 1227 161 78 274606 23988 33856 10016 18784 30326 125576 25656 6404 0.000138 0.000000 0.000177 0.000200 0.000000 0.000264 0.000127 0.000078 0.000625 19 0 3 1 0 4 8 1 2 2286 41 284 285 0 232 1211 159 74 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8152 4248 12400 100 12 112 0.0121183 0.0028169 0.00895141 0.0121183 0.0028169 0.00895141 71 A 255 Pass 0.01 0.01 0.01 . 0.01 0.0015 0.004 0.0086 . 0.0089 0.0031 . . . . . 0.47126436 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 87 . . . 0.0028 0.0089 0.012 0.0028 0.009 0.012 . . . . . . . . . . 8.177e-03 . . . 0.0024 0.0090 0.0085 0 0.0071 0.0126 0.0140 0.0074 0.0025 0.0081 0.0086 0 0.0054 0.0107 0.0101 0.0074 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000089006 SNX5 SNX5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200601304 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.008946 . . . . . 0.0020 0.0087 0.0084 0.0283 0 0.0063 0.0098 0.0129 0.0079 0.0011 0.0067 0.0167 0.0397 0 0.0063 0.0094 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs200601304 rs200601304 1 1538 10 1.I 0,12,33 +rs62213504 20 25754225 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754225 25754225 Chr20(GRCh37):g.25754225C>T 2032 2032 XR_244224.1:n.2032G>A 3 1724 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs62213504 no no 0 0.000000 0 transition G A G>A 0.000 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.8064516 . . @ 100 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 124.0 . . . . . . . . . . -0.6572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.35 0.19 182 ENSG00000175170 FAM182B FAM182B . . . . . . 7957 0.122461 64976 7957 0.132648 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs62213504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62213504 rs62213504 rs62213504 rs62213504 1 1538 10 1/0 0,252,247 +rs779864301 20 25754253 G A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754253 25754253 Chr20(GRCh37):g.25754253G>A 2004 2004 XR_244224.1:n.2004C>T 3 1696 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 Cryptic Acceptor Weakly Activated 25754243 3.77423 0.189922 71.9294 3.64666 0.234102 75.2121 rs779864301 no no 0 0.000000 0 transition C T C>T 0.000 -0.682 213 PASS . . . . . . . . . . . . . . . . 0.19298245 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 114.0 . . . . . . . . . . -0.3354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs779864301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs79046098 20 25754256 G A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754256 25754256 Chr20(GRCh37):g.25754256G>A 2001 2001 XR_244224.1:n.2001C>T 3 1693 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 Cryptic Acceptor Strongly Activated 25754243 3.77423 0.189922 71.9294 4.71039 0.404892 75.045 rs79046098 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4385965 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 114.0 . . . . . . . . . . 0.0187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.34 0.18 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79046098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79046098 rs79046098 1 1538 10 1/0 0,251,255 +rs796164429 20 25754263 A T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754263 25754263 Chr20(GRCh37):g.25754263A>T 1994 1994 XR_244224.1:n.1994T>A 3 1686 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs796164429 no no 0 0.000000 0 transversion T A T>A 0.000 -1.086 216 PASS . . . . . . . . . . . . . . . . 0.20168068 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.2878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.32 0.22 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . rs71189678 rs71189678 rs71189678 1 1538 10 1/0 0,228,255 +rs73347168 20 25754269 A G - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754269 25754269 Chr20(GRCh37):g.25754269A>G 1988 1988 XR_244224.1:n.1988T>C 3 1680 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs73347168 no no 0 0.000000 0 transition T C T>C 0.008 0.690 255 PASS . . . . . . . . . . . . . . . . 0.3478261 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . . . . . . . 0.1223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.33 0.24 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73347168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73347168 rs73347168 rs73347168 1 1538 10 1/0 0,243,255 +rs112771311 20 25754287 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754287 25754287 Chr20(GRCh37):g.25754287C>T 1970 1970 XR_244224.1:n.1970G>A 3 1662 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 New Acceptor Site 25754285 0.52735 6,00E-06 67.1344 rs112771311 no no 0 0.000000 0 transition G A G>A 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.35051546 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . -0.1151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.34 0.23 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112771311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112771311 rs112771311 1 1538 10 1/0 0,251,255 +rs77627492 20 25754295 T A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754295 25754295 Chr20(GRCh37):g.25754295T>A 1962 1962 XR_244224.1:n.1962A>T 3 1654 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs77627492 no no 0 0.000000 0 transversion A T A>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.79746836 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 79.0 . . . . . . . . . . -0.2401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.35 0.21 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs77627492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77627492 rs77627492 1 1538 10 1/0 0,255,255 +rs199884738 20 25754306 A C - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754306 25754306 Chr20(GRCh37):g.25754306A>C 1951 1951 XR_244224.1:n.1951T>G 3 1643 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 New Acceptor Site 25754305 5.853 0.234446 73.0182 rs199884738 no no 0 0.000000 0 transversion T G T>G 0.024 0.609 255 PASS . . . . . . . . . . . . . . . . 0.44 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 75.0 . . . . . . . . . . 0.0579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.37 0.16 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199884738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199884738 rs199884738 1 1538 10 1/0 0,255,255 +rs77097669 20 25754316 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754316 25754316 Chr20(GRCh37):g.25754316C>T 1941 1941 XR_244224.1:n.1941G>A 3 1633 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs77097669 no no 0 0.000000 0 transition G A G>A 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.7164179 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 67.0 . . . . . . . . . . -0.4926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.3 0.16 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77097669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77097669 rs77097669 1 1538 10 1/0 0,255,255 +rs796083055 20 25754335 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754335 25754335 Chr20(GRCh37):g.25754335C>T 1922 1922 XR_244224.1:n.1922G>A 3 1614 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs796083055 no no 0 0.000000 0 transition G A G>A 0.000 -0.521 251 PASS . . . . . . . . . . . . . . . . 0.3137255 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879021904 20 25767295 G A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution intron GRCh37 25767295 25767295 Chr20(GRCh37):g.25767295G>A 308+86 308+86 XR_244224.1:n.308+86C>T p.? p.? 2 2 86 5' 69.1252 0 0 0 69.1252 0 0 0 0 rs879021904 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.508 0.448 234 PASS . . . . . . . . . . . . . . . . 0.25609756 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 164.0 . . . . . . . . . . -0.2429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +. 20 25767332 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution intron GRCh37 25767332 25767332 Chr20(GRCh37):g.25767332C>T 308+49 308+49 XR_244224.1:n.308+49G>A p.? p.? 2 2 49 5' 69.1252 0 0 0 69.1252 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.008 -0.037 183 PASS . . . . . . . . . . . . . . . . 0.11949685 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . . . . . . . . . -0.4844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +rs201757611 20 25767343 T A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution intron GRCh37 25767343 25767343 Chr20(GRCh37):g.25767343T>A 308+38 308+38 XR_244224.1:n.308+38A>T p.? p.? 2 2 38 5' 69.1252 0 0 0 69.1252 0 0 0 0 rs201757611 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.047 0.367 228 PASS . . . . . . . . . . . . . . . . 0.23571429 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.4296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.59 0.37 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs201757611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . rs201757611 rs201757611 1 1538 10 1/0 0,224,255 +. 20 25767352 G T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution intron GRCh37 25767352 25767352 Chr20(GRCh37):g.25767352G>T 308+29 308+29 XR_244224.1:n.308+29C>A p.? p.? 2 2 29 5' 69.1252 0 0 0 69.1252 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.228 0.448 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . . . . . . . . . -0.3148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs200079904 20 25767379 G A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution splice site GRCh37 25767379 25767379 Chr20(GRCh37):g.25767379G>A 308+2 308+2 XR_244224.1:n.308+2C>T p.? p.? 2 2 2 5' 69.1252 0 0 0 72.1081 7.75781 0.624368 4.19193 0.681051 Cryptic Donor Strongly Activated 25767381 69.1252 7.75781 0.624368 72.1081 rs200079904 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.024 0.448 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 108.0 . . . . . . . . . . -0.4292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_splicing ncRNA_splicing . . . @ . . . 0.52 0.19 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs200079904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs200079904 rs200079904 1 1538 10 1/0 0,224,255 +rs79754881 (chr20:25900128 A/T) 20 25900128 A T Not on a known gene +rs11699441 (chr20:25900135 C/A) 20 25900135 C A Not on a known gene +rs6037279 (chr20:25900162 C/A) 20 25900162 C A Not on a known gene +. (chr20:25900164 CCAA/C) 20 25900164 CCAA C Not on a known gene +. (chr20:25900190 AAATT/A) 20 25900190 AAATT A Not on a known gene +rs74935724 (chr20:25900215 T/C) 20 25900215 T C Not on a known gene +rs62212279 (chr20:25900249 G/A) 20 25900249 G A Not on a known gene +. 20 26049798 C T - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution exon GRCh37 26049798 26049798 Chr20(GRCh37):g.26049798C>T 718 718 NR_026713.1:n.718C>T 2 -43 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.986929 3.35914 0 Cryptic Donor Strongly Activated 26049796 69.1252 7.75781 0.624368 72.1081 transition C T C>T 0.004 -0.440 187 PASS . . . . . . . . . . . . . . . . 0.12962963 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 108.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H240Y|FAM182A|Non-coding_transcript|NON_CODING|NR_026713|NR_026713.ex.2) . . . . . . . -0.6319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000125804\x3bENSG00000125804 FAM182A FAM182A ENST00000415411:exon2:c.442+2C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 20 26049834 A T - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution exon GRCh37 26049834 26049834 Chr20(GRCh37):g.26049834A>T 754 754 NR_026713.1:n.754A>T 2 -7 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.971958 3.68609 -0.00505643 transversion A T A>T 0.004 -2.216 224 PASS . . . . . . . . . . . . . . . . 0.22556391 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 133.0 . . STOP_GAINED(HIGH|NONSENSE|Aaa/Taa|K252*|FAM182A|Non-coding_transcript|NON_CODING|NR_026713|NR_026713.ex.2) . . . . . . . -1.4471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.305 -2.305000 . . 0.000000 . . 1.0E-224 . . . . . . . . . -2.305 . . . . . . 1 1538 10 1/0 0,225,255 +. 20 26049845 G A - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution splice site GRCh37 26049845 26049845 Chr20(GRCh37):g.26049845G>A 760+5 760+5 NR_026713.1:n.760+5G>A p.? p.? 2 2 5 5' 81.6064 5.61347 0.986929 3.91522 69.4549 0 0.314079 0 -0.610222 transition G A G>A 0.004 -0.521 183 PASS . . . . . . . . . . . . . . . . 0.11949685 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . INTRON(MODIFIER||||FAM182A|Non-coding_transcript|NON_CODING|NR_026713|) . . . . . . . -0.4595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +. 20 26049882 C T - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution intron GRCh37 26049882 26049882 Chr20(GRCh37):g.26049882C>T 760+42 760+42 NR_026713.1:n.760+42C>T p.? p.? 2 2 42 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.986929 3.71422 0 transition C T C>T 0.083 -1.893 228 PASS . . . . . . . . . . . . . . . . 0.23563218 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 174.0 . . INTRON(MODIFIER||||FAM182A|Non-coding_transcript|NON_CODING|NR_026713|) . . . . . . . -0.7824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +. 20 26049966 T A - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution intron GRCh37 26049966 26049966 Chr20(GRCh37):g.26049966T>A 760+126 760+126 NR_026713.1:n.760+126T>A p.? p.? 2 2 126 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.986929 3.91522 0 transversion T A T>A 0.000 -2.700 184 PASS . . . . . . . . . . . . . . . . 0.121212125 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||FAM182A|Non-coding_transcript|NON_CODING|NR_026713|) . . . . . . . -0.9840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +. 20 26049967 T G - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution intron GRCh37 26049967 26049967 Chr20(GRCh37):g.26049967T>G 760+127 760+127 NR_026713.1:n.760+127T>G p.? p.? 2 2 127 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.986929 3.91522 0 transversion T G T>G 0.000 -2.135 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . INTRON(MODIFIER||||FAM182A|Non-coding_transcript|NON_CODING|NR_026713|) . . . . . . . -0.8718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs62196805 20 26188923 A C - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188923 26188923 Chr20(GRCh37):g.26188923A>C -9 -9 NR_030386.1:n.-9T>G p.? p.? 1 rs62196805 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -3.911 255 PASS . . . . . . . . . . . . . . . . 0.9104355 . . @ 1108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1217.0 . . . . . . . . . . -0.4478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.45 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62196805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62196805 rs62196805 rs62196805 rs62196805 1 1538 10 1/0 0,146,143 +rs62196805 20 26188923 A C - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188923 26188923 Chr20(GRCh37):g.26188923A>C 111+836 111+836 NR_040095.1:n.111+836T>G p.? p.? 1 1 836 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs62196805 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -3.911 255 PASS . . . . . . . . . . . . . . . . 0.9104355 . . @ 1108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1217.0 . . . . . . . . . . -0.4478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.45 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62196805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62196805 rs62196805 rs62196805 rs62196805 1 1538 10 1/0 0,146,143 +rs374365309 20 26188934 C A - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188934 26188934 Chr20(GRCh37):g.26188934C>A -20 -20 NR_030386.1:n.-20G>T p.? p.? 1 rs374365309 no no 0 C 0.000000 0 transversion G T G>T 0.000 -3.669 255 PASS . . . . . . . . . . . . . . . . 0.81288344 . . @ 530 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 652.0 . . . . . . . . . . -0.4840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374365309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374365309 rs374365309 1 1538 10 1/0 0,175,170 +rs374365309 20 26188934 C A - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188934 26188934 Chr20(GRCh37):g.26188934C>A 111+825 111+825 NR_040095.1:n.111+825G>T p.? p.? 1 1 825 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs374365309 no no 0 C 0.000000 0 transversion G T G>T 0.000 -3.669 255 PASS . . . . . . . . . . . . . . . . 0.81288344 . . @ 530 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 652.0 . . . . . . . . . . -0.4840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374365309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374365309 rs374365309 1 1538 10 1/0 0,175,170 +rs372087370 20 26188942 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188942 26188942 Chr20(GRCh37):g.26188942A>G -28 -28 NR_030386.1:n.-28T>C p.? p.? 1 rs372087370 no no 0 A 0.000000 0 transition T C T>C 0.000 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.8515284 . . @ 780 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 916.0 . . . . . . . . . . -0.0925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372087370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372087370 rs372087370 1 1538 10 1/0 0,159,154 +rs372087370 20 26188942 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188942 26188942 Chr20(GRCh37):g.26188942A>G 111+817 111+817 NR_040095.1:n.111+817T>C p.? p.? 1 1 817 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs372087370 no no 0 A 0.000000 0 transition T C T>C 0.000 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.8515284 . . @ 780 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 916.0 . . . . . . . . . . -0.0925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372087370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372087370 rs372087370 1 1538 10 1/0 0,159,154 +. 20 26188950 C CG - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 insertion upstream GRCh37 26188950 26188951 Chr20(GRCh37):g.26188950_26188951insG -37 -36 NR_030386.1:n.-37_-36insC p.? p.? 1 rs374803620 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.75208914 . . . 540 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374803620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,12 +. 20 26188950 C CG - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 insertion intron GRCh37 26188950 26188951 Chr20(GRCh37):g.26188950_26188951insG 111+808 111+809 NR_040095.1:n.111+808_111+809insC p.? p.? 1 1 808 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs374803620 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.75208914 . . . 540 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374803620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,12 +rs375032346 20 26188951 T G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188951 26188951 Chr20(GRCh37):g.26188951T>G -37 -37 NR_030386.1:n.-37A>C p.? p.? 1 rs375032346 no no 0 G 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000969 0.000000 1 0 0 0 0 0 0 0 1 36942 658 6392 3042 542 9446 14092 1738 1032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 49 Exomes transversion A C A>C 0.012 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.8103208 . . @ 581 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 717.0 . . . . . . . . . . 0.0937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs375032346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.707e-05 0 0 0 0 0 0.0010 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375032346 rs375032346 1 1538 10 1/0 0,175,171 +rs375032346 20 26188951 T G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188951 26188951 Chr20(GRCh37):g.26188951T>G 111+808 111+808 NR_040095.1:n.111+808A>C p.? p.? 1 1 808 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs375032346 no no 0 G 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000969 0.000000 1 0 0 0 0 0 0 0 1 36942 658 6392 3042 542 9446 14092 1738 1032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 49 Exomes transversion A C A>C 0.012 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.8103208 . . @ 581 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 717.0 . . . . . . . . . . 0.0937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs375032346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.707e-05 0 0 0 0 0 0.0010 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375032346 rs375032346 1 1538 10 1/0 0,175,171 +rs369481709 20 26188954 T C - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188954 26188954 Chr20(GRCh37):g.26188954T>C -40 -40 NR_030386.1:n.-40A>G p.? p.? 1 rs369481709 no no 0 T 0.000000 0 transition A G A>G 0.087 0.125 255 PASS . . . . . . . . . . . . . . . . 0.76419216 . . @ 525 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . . . . . . . . . 0.4658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs369481709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369481709 rs369481709 1 1538 10 1/0 0,180,175 +rs369481709 20 26188954 T C - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188954 26188954 Chr20(GRCh37):g.26188954T>C 111+805 111+805 NR_040095.1:n.111+805A>G p.? p.? 1 1 805 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs369481709 no no 0 T 0.000000 0 transition A G A>G 0.087 0.125 255 PASS . . . . . . . . . . . . . . . . 0.76419216 . . @ 525 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . . . . . . . . . 0.4658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs369481709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369481709 rs369481709 1 1538 10 1/0 0,180,175 +. 20 26188963 C CG - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 duplication upstream GRCh37 26188963 26188964 Chr20(GRCh37):g.26188964dup -50 -50 NR_030386.1:n.-50dup p.? p.? 1 rs367883420 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.7492163 . . . 478 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367883420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,13 +. 20 26188963 C CG - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 duplication intron GRCh37 26188963 26188964 Chr20(GRCh37):g.26188964dup 111+795 111+795 NR_040095.1:n.111+795dup p.? p.? 1 1 795 5' 76.1785 0 0 0 76.1785 0 0 0 0 Cryptic Acceptor Strongly Activated 26188949 0.866122 0.000123 61.7058 2.02842 0.000169 61.7058 rs367883420 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.7492163 . . . 478 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367883420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,13 +rs372007260 20 26188973 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188973 26188973 Chr20(GRCh37):g.26188973A>G -59 -59 NR_030386.1:n.-59T>C p.? p.? 1 rs372007260 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.7542857 . . @ 396 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 525.0 . . . . . . . . . . 0.3979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372007260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372007260 rs372007260 1 1538 10 1/0 0,186,181 +rs372007260 20 26188973 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188973 26188973 Chr20(GRCh37):g.26188973A>G 111+786 111+786 NR_040095.1:n.111+786T>C p.? p.? 1 1 786 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs372007260 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.7542857 . . @ 396 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 525.0 . . . . . . . . . . 0.3979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372007260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372007260 rs372007260 1 1538 10 1/0 0,186,181 +rs375334500 20 26188981 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188981 26188981 Chr20(GRCh37):g.26188981A>G -67 -67 NR_030386.1:n.-67T>C p.? p.? 1 rs375334500 no no 0 A 0.000000 0 transition T C T>C 0.000 -4.234 255 PASS . . . . . . . . . . . . . . . . 0.7756286 . . @ 401 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 517.0 . . . . . . . . . . -0.4275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs375334500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375334500 rs375334500 1 1538 10 1/0 0,192,187 +rs375334500 20 26188981 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188981 26188981 Chr20(GRCh37):g.26188981A>G 111+778 111+778 NR_040095.1:n.111+778T>C p.? p.? 1 1 778 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs375334500 no no 0 A 0.000000 0 transition T C T>C 0.000 -4.234 255 PASS . . . . . . . . . . . . . . . . 0.7756286 . . @ 401 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 517.0 . . . . . . . . . . -0.4275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs375334500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375334500 rs375334500 1 1538 10 1/0 0,192,187 +rs28410824 20 26188989 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188989 26188989 Chr20(GRCh37):g.26188989A>G -75 -75 NR_030386.1:n.-75T>C p.? p.? 1 rs28410824 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.0188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.48 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28410824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28410824 rs28410824 rs28410824 rs28410824 1 1538 10 1/0 0,225,255 +rs28410824 20 26188989 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188989 26188989 Chr20(GRCh37):g.26188989A>G 111+770 111+770 NR_040095.1:n.111+770T>C p.? p.? 1 1 770 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs28410824 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.0188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.48 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28410824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28410824 rs28410824 rs28410824 rs28410824 1 1538 10 1/0 0,225,255 +. 20 26188994 C CGA - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 insertion upstream GRCh37 26188994 26188995 Chr20(GRCh37):g.26188994_26188995insGA -81 -80 NR_030386.1:n.-81_-80insTC p.? p.? 1 TC 255 Pass . . . . . . . . . . . . . . . . 0.3409091 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +. 20 26188994 C CGA - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 insertion intron GRCh37 26188994 26188995 Chr20(GRCh37):g.26188994_26188995insGA 111+764 111+765 NR_040095.1:n.111+764_111+765insTC p.? p.? 1 1 764 5' 76.1785 0 0 0 76.1785 0 0 0 0 TC 255 Pass . . . . . . . . . . . . . . . . 0.3409091 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +. 20 26188995 A C - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188995 26188995 Chr20(GRCh37):g.26188995A>C -81 -81 NR_030386.1:n.-81T>G p.? p.? 1 transversion T G T>G 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.32824427 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . 0.2387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +. 20 26188995 A C - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188995 26188995 Chr20(GRCh37):g.26188995A>C 111+764 111+764 NR_040095.1:n.111+764T>G p.? p.? 1 1 764 5' 76.1785 0 0 0 76.1785 0 0 0 0 transversion T G T>G 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.32824427 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . 0.2387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs143959040 20 26189002 G C - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26189002 26189002 Chr20(GRCh37):g.26189002G>C -88 -88 NR_030386.1:n.-88C>G p.? p.? 1 rs143959040 no no 0 G 0.000000 0 transversion C G C>G 0.000 -0.440 238 PASS . . . . . . . . . . . . . . . . 0.26712328 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.4112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.53 0.47 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143959040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs1761118 rs1761118 rs143959040 rs143959040 1 1538 10 1/0 0,226,255 +rs143959040 20 26189002 G C - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26189002 26189002 Chr20(GRCh37):g.26189002G>C 111+757 111+757 NR_040095.1:n.111+757C>G p.? p.? 1 1 757 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs143959040 no no 0 G 0.000000 0 transversion C G C>G 0.000 -0.440 238 PASS . . . . . . . . . . . . . . . . 0.26712328 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.4112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.53 0.47 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143959040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs1761118 rs1761118 rs143959040 rs143959040 1 1538 10 1/0 0,226,255 +rs114289380 20 26189004 G A - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26189004 26189004 Chr20(GRCh37):g.26189004G>A -90 -90 NR_030386.1:n.-90C>T p.? p.? 1 rs114289380 no no 0 G 0.000000 0 transition C T C>T 0.000 0.044 237 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.2737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.55 0.45 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114289380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs114289380 rs114289380 1 1538 10 1/0 0,231,255 +rs114289380 20 26189004 G A - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26189004 26189004 Chr20(GRCh37):g.26189004G>A 111+755 111+755 NR_040095.1:n.111+755C>T p.? p.? 1 1 755 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs114289380 no no 0 G 0.000000 0 transition C T C>T 0.000 0.044 237 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.2737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.55 0.45 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114289380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs114289380 rs114289380 1 1538 10 1/0 0,231,255 +. 20 26189007 A AC - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 duplication upstream GRCh37 26189007 26189008 Chr20(GRCh37):g.26189008dup -94 -94 NR_030386.1:n.-94dup p.? p.? 1 rs367646429 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.27108434 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367646429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,57 +. 20 26189007 A AC - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 duplication intron GRCh37 26189007 26189008 Chr20(GRCh37):g.26189008dup 111+751 111+751 NR_040095.1:n.111+751dup p.? p.? 1 1 751 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs367646429 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.27108434 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367646429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,57 +rs76285564 20 26189009 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26189009 26189009 Chr20(GRCh37):g.26189009A>G -95 -95 NR_030386.1:n.-95T>C p.? p.? 1 rs76285564 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.5214724 . . @ 85 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.2644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.53 0.46 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76285564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76285564 rs76285564 1 1538 10 1/0 0,244,255 +rs76285564 20 26189009 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26189009 26189009 Chr20(GRCh37):g.26189009A>G 111+750 111+750 NR_040095.1:n.111+750T>C p.? p.? 1 1 750 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs76285564 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.5214724 . . @ 85 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.2644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.53 0.46 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76285564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76285564 rs76285564 1 1538 10 1/0 0,244,255 +. 20 29623075 C CAAAG - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 insertion intron GRCh37 29623077 29623078 Chr20(GRCh37):g.29623077_29623078insAGAA 291-52 291-51 NR_003579.1:n.291-52_291-51insAGAA p.? p.? 3 2 -51 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 4.92509 0 rs150711278 no no 0 0.000000 0 AGAA 255 Pass . . . . . . . . . . . . . . . . 0.47058824 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150711278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs150711278 rs150711278 1 1538 10 1.I 0,12,33 +. 20 29623075 C CAAAG - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 insertion intron GRCh37 29623077 29623078 Chr20(GRCh37):g.29623077_29623078insAGAA 134-52 134-51 NR_132316.1:n.134-52_134-51insAGAA p.? p.? 3 2 -51 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 4.92509 0 rs150711278 no no 0 0.000000 0 AGAA 255 Pass . . . . . . . . . . . . . . . . 0.47058824 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150711278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs150711278 rs150711278 1 1538 10 1.I 0,12,33 +rs10439603 20 29623103 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29623103 29623103 Chr20(GRCh37):g.29623103G>A 291-26 291-26 NR_003579.1:n.291-26G>A p.? p.? 3 2 -26 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.51494 0 rs10439603 no no 0 0.000000 0 transition G A G>A 0.016 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.37878788 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.2096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.29 0.22 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10439603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs10439603 rs10439603 rs10439603 rs10439603 1 1538 10 1/0 0,255,255 +rs10439603 20 29623103 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29623103 29623103 Chr20(GRCh37):g.29623103G>A 134-26 134-26 NR_132316.1:n.134-26G>A p.? p.? 3 2 -26 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.51494 0 rs10439603 no no 0 0.000000 0 transition G A G>A 0.016 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.37878788 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.2096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.29 0.22 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10439603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs10439603 rs10439603 rs10439603 rs10439603 1 1538 10 1/0 0,255,255 +. 20 29623113 CA C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 deletion intron GRCh37 29623115 29623115 Chr20(GRCh37):g.29623115del 291-14 291-14 NR_003579.1:n.291-14del p.? p.? 3 2 -14 3' 92.9953 11.0214 0.986563 4.92732 92.9953 X.17 0.992779 5.44732 -0.0178524 rs150951095 yes no Frequency/1000G 2 0.000000 0 0.401358 0.460700 0.485700 0.359100 0.328000 0.337200 A 255 Pass . . . . . 0.46 0.4 0.34 0.36 0.33 0.49 . . . . . 0.17204301 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 93 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150951095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs150951095 rs150951095 1 1538 10 1.I 0,7,76 +. 20 29623113 CA C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 deletion intron GRCh37 29623115 29623115 Chr20(GRCh37):g.29623115del 134-14 134-14 NR_132316.1:n.134-14del p.? p.? 3 2 -14 3' 92.9953 11.0214 0.986563 4.92732 92.9953 X.17 0.992779 5.44732 -0.0178524 rs150951095 yes no Frequency/1000G 2 0.000000 0 0.401358 0.460700 0.485700 0.359100 0.328000 0.337200 A 255 Pass . . . . . 0.46 0.4 0.34 0.36 0.33 0.49 . . . . . 0.17204301 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 93 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150951095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs150951095 rs150951095 1 1538 10 1.I 0,7,76 +rs76803871 20 29623115 A T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29623115 29623115 Chr20(GRCh37):g.29623115A>T 291-14 291-14 NR_003579.1:n.291-14A>T p.? p.? 3 2 -14 3' 92.9953 11.0214 0.986563 4.92732 93.3933 XI.39 0.992975 VI.06 0.0199987 rs76803871 no no 0 0.000000 0 transversion A T A>T 0.000 -0.279 202 PASS . . . . . . . . . . . . . . . . 0.16494845 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . -0.2830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.41 0.15 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76803871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs76803871 rs76803871 1 1538 10 1/0 0,233,255 +rs76803871 20 29623115 A T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29623115 29623115 Chr20(GRCh37):g.29623115A>T 134-14 134-14 NR_132316.1:n.134-14A>T p.? p.? 3 2 -14 3' 92.9953 11.0214 0.986563 4.92732 93.3933 XI.39 0.992975 VI.06 0.0199987 rs76803871 no no 0 0.000000 0 transversion A T A>T 0.000 -0.279 202 PASS . . . . . . . . . . . . . . . . 0.16494845 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . -0.2830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.41 0.15 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76803871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs76803871 rs76803871 1 1538 10 1/0 0,233,255 +rs62198335 20 29623156 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29623156 29623156 Chr20(GRCh37):g.29623156G>A 318 318 NR_003579.1:n.318G>A 3 28 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.16172 0 rs62198335 yes no Frequency 1 0.000000 0 transition G A G>A 1.000 2.062 175 PASS . . . . . . . . . . . . . . . . 0.102564104 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 195.0 . . . . . . . . . . 1.1836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic ncRNA_exonic . . . @ . . . 0.66 0.58 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs62198335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs62198335 rs62198335 rs62198335 rs62198335 1 1538 10 1/0 0,197,255 +rs62198335 20 29623156 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29623156 29623156 Chr20(GRCh37):g.29623156G>A 161 161 NR_132316.1:n.161G>A 3 28 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.16172 0 rs62198335 yes no Frequency 1 0.000000 0 transition G A G>A 1.000 2.062 175 PASS . . . . . . . . . . . . . . . . 0.102564104 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 195.0 . . . . . . . . . . 1.1836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic ncRNA_exonic . . . @ . . . 0.66 0.58 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs62198335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs62198335 rs62198335 rs62198335 rs62198335 1 1538 10 1/0 0,197,255 +rs76771829 20 29623175 A T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29623175 29623175 Chr20(GRCh37):g.29623175A>T 337 337 NR_003579.1:n.337A>T 3 47 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.21906 0 rs76771829 no no 0 0.000000 0 0.000093 0.000000 0.000030 0.000101 0.000109 0.000232 0.000106 0.000000 0.000161 0.000232 25 0 1 1 2 7 13 0 1 267790 22962 33128 9924 18364 30170 122164 24882 6196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 1 1 2 7 13 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.992 -0.360 178 PASS . . . . . . . . . . . . . . . . 0.1092437 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 238.0 . . . . . . . . . . 0.7613 . . . . . . . . . . . . 0.0002 0.0001 0 0.0005 0 0.0002 0 0 0.0002 9.649e-05 0 0.0004 0 9.469e-05 0 0 . . . . . . UTR5 intronic ncRNA_exonic . . . @ . . . 0.66 0.66 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76771829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.238e-05 3.083e-05 0.0001 0.0001 0 2.746e-05 0.0002 0.0002 0 0.0004 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs76771829 rs76771829 1 1538 10 1/0 0,190,255 +rs76771829 20 29623175 A T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29623175 29623175 Chr20(GRCh37):g.29623175A>T 180 180 NR_132316.1:n.180A>T 3 47 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.21906 0 rs76771829 no no 0 0.000000 0 0.000093 0.000000 0.000030 0.000101 0.000109 0.000232 0.000106 0.000000 0.000161 0.000232 25 0 1 1 2 7 13 0 1 267790 22962 33128 9924 18364 30170 122164 24882 6196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 1 1 2 7 13 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.992 -0.360 178 PASS . . . . . . . . . . . . . . . . 0.1092437 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 238.0 . . . . . . . . . . 0.7613 . . . . . . . . . . . . 0.0002 0.0001 0 0.0005 0 0.0002 0 0 0.0002 9.649e-05 0 0.0004 0 9.469e-05 0 0 . . . . . . UTR5 intronic ncRNA_exonic . . . @ . . . 0.66 0.66 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76771829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.238e-05 3.083e-05 0.0001 0.0001 0 2.746e-05 0.0002 0.0002 0 0.0004 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs76771829 rs76771829 1 1538 10 1/0 0,190,255 +rs77485836 20 29623215 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29623215 29623215 Chr20(GRCh37):g.29623215G>A 377 377 NR_003579.1:n.377G>A 3 -40 5' 79.6441 7.80624 0.859886 2.76582 79.6441 7.80624 0.859886 2.25607 0 rs77485836 yes no Frequency/1000G 2 0.000000 0 0.027556 0.010600 0.033700 0.023800 0.026800 0.057600 0.000070 0.000000 0.000000 0.000000 0.000054 0.000000 0.000130 0.000040 0.000159 0.000130 19 0 0 0 1 0 16 1 1 270108 23010 33642 10008 18544 30592 123028 25010 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 0 0 1 0 16 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 3.676 211 PASS . . . . . 0.011 0.028 0.058 0.024 0.027 0.034 ENSG00000149531:ENST00000439954:exon3:c.G31A:p.D11N . . . . 0.18644068 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 236.0 . . . . . . . . . . 0.0741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic ncRNA_exonic . . . 0.0276 . . . 0.37 0.32 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77485836 . . . . . . . . . . . . IX.43 . ENST00000439954 I.93 I.93 . 0.060000 . . . . . . . . . . 0 8.256e-06 0 0 5.884e-05 0 0 0.0002 0 0 0.0006 0 0 0 0.0004 0.0012 0 . . . . 1.399 1.399000 . . 0.060000 . . 1.0E-211 . . . . . . . . . 1.399 . . . . rs77485836 rs77485836 1 1538 10 1/0 0,197,255 +rs77485836 20 29623215 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29623215 29623215 Chr20(GRCh37):g.29623215G>A 220 220 NR_132316.1:n.220G>A 3 -40 5' 79.6441 7.80624 0.859886 1.78837 79.6441 7.80624 0.859886 1.27863 0 rs77485836 yes no Frequency/1000G 2 0.000000 0 0.027556 0.010600 0.033700 0.023800 0.026800 0.057600 0.000070 0.000000 0.000000 0.000000 0.000054 0.000000 0.000130 0.000040 0.000159 0.000130 19 0 0 0 1 0 16 1 1 270108 23010 33642 10008 18544 30592 123028 25010 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 0 0 1 0 16 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 3.676 211 PASS . . . . . 0.011 0.028 0.058 0.024 0.027 0.034 ENSG00000149531:ENST00000439954:exon3:c.G31A:p.D11N . . . . 0.18644068 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 236.0 . . . . . . . . . . 0.0741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic ncRNA_exonic . . . 0.0276 . . . 0.37 0.32 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77485836 . . . . . . . . . . . . IX.43 . ENST00000439954 I.93 I.93 . 0.060000 . . . . . . . . . . 0 8.256e-06 0 0 5.884e-05 0 0 0.0002 0 0 0.0006 0 0 0 0.0004 0.0012 0 . . . . 1.399 1.399000 . . 0.060000 . . 1.0E-211 . . . . . . . . . 1.399 . . . . rs77485836 rs77485836 1 1538 10 1/0 0,197,255 +rs8120738 20 29623957 C G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29623957 29623957 Chr20(GRCh37):g.29623957C>G 416+703 416+703 NR_003579.1:n.416+703C>G p.? p.? 3 3 703 5' 79.6441 7.80624 0.859886 2.76582 79.6441 7.80624 0.859886 2.76582 0 rs8120738 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.279 140 PASS . . . . . . . . . . . . . . . . 0.1632653 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.2041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.37 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs8120738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-140 . . . . . . . . . . . . rs8120738 rs8120738 rs8120738 rs201899792 1 1538 10 1/0 0,255,255 +rs8120738 20 29623957 C G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29623957 29623957 Chr20(GRCh37):g.29623957C>G 260-78 260-78 NR_132316.1:n.260-78C>G p.? p.? 4 3 -78 3' 0 0 0 0 0 0 0 0 0 29623960 -20.2941 rs8120738 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.279 140 PASS . . . . . . . . . . . . . . . . 0.1632653 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.2041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.37 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs8120738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-140 . . . . . . . . . . . . rs8120738 rs8120738 rs8120738 rs201899792 1 1538 10 1/0 0,255,255 +. 20 29624020 G GT - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 duplication intron GRCh37 29624026 29624027 Chr20(GRCh37):g.29624026dup 416+772 416+772 NR_003579.1:n.416+772dup p.? p.? 3 3 772 5' 79.6441 7.80624 0.859886 2.76582 79.6441 7.80624 0.859886 2.76582 0 rs148324184 yes no Frequency/1000G 2 0.000000 0 0.000539 0.000000 0.002473 0.000123 0.000864 0.000601 0.000226 0.000134 0.000803 0.002473 113 0 59 1 12 13 21 3 4 209586 21598 23858 8154 13888 21648 93114 22346 4980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 113 0 59 1 12 13 21 3 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.46551725 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . . . . . . . . . . . . . . . . . . 3.987e-05 . . . 0 0.0001 0 0 0.0019 0.0002 0 0 0 0.0001 0 0 0.0005 0.0003 0 0 . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148324184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0026 0.0001 0.0010 0.0002 0.0002 0.0010 0.0006 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148324184 rs148324184 1 1538 10 1.I 0,12,33 +. 20 29624020 G GT - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 duplication intron GRCh37 29624026 29624027 Chr20(GRCh37):g.29624026dup 260-9 260-9 NR_132316.1:n.260-9dup p.? p.? 4 3 -8 3' 0 0 0 0 0 0 0 0 0 rs148324184 yes no Frequency/1000G 2 0.000000 0 0.000539 0.000000 0.002473 0.000123 0.000864 0.000601 0.000226 0.000134 0.000803 0.002473 113 0 59 1 12 13 21 3 4 209586 21598 23858 8154 13888 21648 93114 22346 4980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 113 0 59 1 12 13 21 3 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.46551725 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . . . . . . . . . . . . . . . . . . 3.987e-05 . . . 0 0.0001 0 0 0.0019 0.0002 0 0 0 0.0001 0 0 0.0005 0.0003 0 0 . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148324184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0026 0.0001 0.0010 0.0002 0.0002 0.0010 0.0006 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148324184 rs148324184 1 1538 10 1.I 0,12,33 +rs77915801 20 29624070 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29624070 29624070 Chr20(GRCh37):g.29624070G>A 416+816 416+816 NR_003579.1:n.416+816G>A p.? p.? 3 3 816 5' 79.6441 7.80624 0.859886 2.76582 79.6441 7.80624 0.859886 2.76582 0 rs77915801 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.000000 0.001000 0.002000 0.000000 0.000265 0.000000 0.000879 0.000000 0.000720 0.000306 0.000141 0.000000 0.000768 0.000879 59 0 23 0 11 7 14 0 4 222552 21642 26168 8490 15268 22904 99592 23278 5210 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 0 23 0 11 7 14 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 2.950 255 PASS . . . . . . 0.0006 . 0.001 0.002 . . FRG1B:uc010ztl.1:exon1:c.G4A:p.A2T . . . 0.36585367 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.692 . @ . . . . . 1 0.783 . . 41.0 . . . . . . . . . . 0.0419 -0.015 0.042 c . . . . . 1.280e-04 . . . 0 0.0001 0 0.0009 0.0010 0.0002 0 0 0 0.0002 0 0.0020 0.0003 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.247 @ . . . 0.58 0.38 182 ENSG00000149531 FRG1B FRG1DP . . . 0.967 0.289 . . . . . . . . . 0 . 0.504 . . . . T 0.112 0.005 . . 37 . 0.509 . . 0.552 . . . . 0.426 . . . . . . . . . . . . . . . 0.630 . . . . . . 0 . . 0.358 . . 0.473 . . . . . . 1 0.473 . . . . . 0.401 . 0.710 . HET 0.02 rs113131305 . . . . . . . . . . . . IX.27 . . I.91 I.91 . 0.050000 F5H5R5 . . . . . 0.572 . . . 0 0.0003 0.0009 0 0.0007 0 0.0001 0.0009 0.0003 0 0.0001 0 0 0.0012 0 0.0001 0 . . 0.409 . 1.383 1.383000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.161 0.720 . 0.896 . 0.280 1.383 0.697 . rs4302016 rs4302016 rs77915801 rs113131305 1 1538 10 1/0 0,255,255 +rs77915801 20 29624070 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29624070 29624070 Chr20(GRCh37):g.29624070G>A 295 295 NR_132316.1:n.295G>A 4 -22 5' 0 0 0 0 0 0 0 0 0 rs77915801 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.000000 0.001000 0.002000 0.000000 0.000265 0.000000 0.000879 0.000000 0.000720 0.000306 0.000141 0.000000 0.000768 0.000879 59 0 23 0 11 7 14 0 4 222552 21642 26168 8490 15268 22904 99592 23278 5210 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 0 23 0 11 7 14 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 2.950 255 PASS . . . . . . 0.0006 . 0.001 0.002 . . FRG1B:uc010ztl.1:exon1:c.G4A:p.A2T . . . 0.36585367 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.692 . @ . . . . . 1 0.783 . . 41.0 . . . . . . . . . . 0.0419 -0.015 0.042 c . . . . . 1.280e-04 . . . 0 0.0001 0 0.0009 0.0010 0.0002 0 0 0 0.0002 0 0.0020 0.0003 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.247 @ . . . 0.58 0.38 182 ENSG00000149531 FRG1B FRG1DP . . . 0.967 0.289 . . . . . . . . . 0 . 0.504 . . . . T 0.112 0.005 . . 37 . 0.509 . . 0.552 . . . . 0.426 . . . . . . . . . . . . . . . 0.630 . . . . . . 0 . . 0.358 . . 0.473 . . . . . . 1 0.473 . . . . . 0.401 . 0.710 . HET 0.02 rs113131305 . . . . . . . . . . . . IX.27 . . I.91 I.91 . 0.050000 F5H5R5 . . . . . 0.572 . . . 0 0.0003 0.0009 0 0.0007 0 0.0001 0.0009 0.0003 0 0.0001 0 0 0.0012 0 0.0001 0 . . 0.409 . 1.383 1.383000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.161 0.720 . 0.896 . 0.280 1.383 0.697 . rs4302016 rs4302016 rs77915801 rs113131305 1 1538 10 1/0 0,255,255 +rs75736243 20 29625817 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625817 29625817 Chr20(GRCh37):g.29625817T>C 417-56 417-56 NR_003579.1:n.417-56T>C p.? p.? 4 3 -56 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.534861 3.32577 0 rs75736243 yes no Frequency 1 0.000000 0 transition T C T>C 0.000 1.416 186 PASS . . . . . . . . . . . . . . . . 0.12676056 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . . . . . . . . . 0.2281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.51 0.23 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75736243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs75736243 rs75736243 1 1538 10 1/0 0,213,255 +rs75736243 20 29625817 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625817 29625817 Chr20(GRCh37):g.29625817T>C 317-56 317-56 NR_132316.1:n.317-56T>C p.? p.? 5 4 -56 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.93532 0.536457 2.84638 0 rs75736243 yes no Frequency 1 0.000000 0 transition T C T>C 0.000 1.416 186 PASS . . . . . . . . . . . . . . . . 0.12676056 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . . . . . . . . . 0.2281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.51 0.23 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75736243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs75736243 rs75736243 1 1538 10 1/0 0,213,255 +rs149947792 20 29625818 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625818 29625818 Chr20(GRCh37):g.29625818C>T 417-55 417-55 NR_003579.1:n.417-55C>T p.? p.? 4 3 -55 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.534861 3.31966 0 rs149947792 no no 0 0.000000 0 transition C T C>T 0.000 0.286 167 PASS . . . . . . . . . . . . . . . . 0.122137405 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . 0.0026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.17 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs149947792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-167 . . . . . . . . . . . . . . rs149947792 rs149947792 1 1538 10 1/0 0,217,255 +rs149947792 20 29625818 C T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625818 29625818 Chr20(GRCh37):g.29625818C>T 317-55 317-55 NR_132316.1:n.317-55C>T p.? p.? 5 4 -55 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.93532 0.536457 2.84027 0 rs149947792 no no 0 0.000000 0 transition C T C>T 0.000 0.286 167 PASS . . . . . . . . . . . . . . . . 0.122137405 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . 0.0026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.17 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs149947792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-167 . . . . . . . . . . . . . . rs149947792 rs149947792 1 1538 10 1/0 0,217,255 +rs75914051 20 29625832 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625832 29625832 Chr20(GRCh37):g.29625832T>C 417-41 417-41 NR_003579.1:n.417-41T>C p.? p.? 4 3 -41 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.534861 3.72955 0 rs75914051 yes no Frequency 1 0.000000 0 transition T C T>C 0.079 -0.521 180 PASS . . . . . . . . . . . . . . . . 0.1125 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 160.0 . . . . . . . . . . -0.4082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.47 0.22 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75914051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75914051 rs75914051 1 1538 10 1/0 0,207,255 +rs75914051 20 29625832 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625832 29625832 Chr20(GRCh37):g.29625832T>C 317-41 317-41 NR_132316.1:n.317-41T>C p.? p.? 5 4 -41 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.93532 0.536457 3.25016 0 rs75914051 yes no Frequency 1 0.000000 0 transition T C T>C 0.079 -0.521 180 PASS . . . . . . . . . . . . . . . . 0.1125 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 160.0 . . . . . . . . . . -0.4082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.47 0.22 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75914051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75914051 rs75914051 1 1538 10 1/0 0,207,255 +rs79978281 20 29625852 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625852 29625852 Chr20(GRCh37):g.29625852A>G 417-21 417-21 NR_003579.1:n.417-21A>G p.? p.? 4 3 -21 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.429037 III.85 -0.0659511 29625852 -71.1578 rs79978281 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242696 14910 33396 9634 17236 30192 109720 22230 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 137 Exomes transition A G A>G 0.787 0.125 244 PASS . . . . . . . . . . . . . . . . 0.28651685 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . . . . . . . . . -0.1804 . . . . . . . . 7.905e-06 . . . 0 1.14e-05 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.14 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79978281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs79978281 rs79978281 1 1538 10 1/0 0,218,255 +rs79978281 20 29625852 A G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625852 29625852 Chr20(GRCh37):g.29625852A>G 317-21 317-21 NR_132316.1:n.317-21A>G p.? p.? 5 4 -21 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.93532 0.428376 3.0291 -0.0671573 29625852 -71.1578 rs79978281 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242696 14910 33396 9634 17236 30192 109720 22230 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 137 Exomes transition A G A>G 0.787 0.125 244 PASS . . . . . . . . . . . . . . . . 0.28651685 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . . . . . . . . . -0.1804 . . . . . . . . 7.905e-06 . . . 0 1.14e-05 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.14 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79978281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs79978281 rs79978281 1 1538 10 1/0 0,218,255 +rs78946960 20 29625855 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625855 29625855 Chr20(GRCh37):g.29625855T>C 417-18 417-18 NR_003579.1:n.417-18T>C p.? p.? 4 3 -18 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.88248 0.523575 3.70198 -0.010001 rs78946960 yes no Frequency 1 0.000000 0 transition T C T>C 0.772 0.932 247 PASS . . . . . . . . . . . . . . . . 0.29444444 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.1759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.52 0.18 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78946960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs78946960 rs78946960 1 1538 10 1/0 0,219,255 +rs78946960 20 29625855 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625855 29625855 Chr20(GRCh37):g.29625855T>C 317-18 317-18 NR_132316.1:n.317-18T>C p.? p.? 5 4 -18 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.88248 0.519499 3.22259 -0.0135044 rs78946960 yes no Frequency 1 0.000000 0 transition T C T>C 0.772 0.932 247 PASS . . . . . . . . . . . . . . . . 0.29444444 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.1759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.52 0.18 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78946960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs78946960 rs78946960 1 1538 10 1/0 0,219,255 +rs7266938 20 29625877 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29625877 29625877 Chr20(GRCh37):g.29625877G>A 421 421 NR_003579.1:n.421G>A 4 5 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.536457 3.05361 0.000994651 rs7266938 yes no Frequency/HapMap 2 0.000000 0 0.000117 0.000169 0.000029 0.000000 0.000914 0.000066 0.000056 0.000000 0.000156 0.000914 32 4 1 0 17 2 7 0 1 274494 23628 34100 10080 18604 30526 125500 25650 6406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 4 1 0 17 2 7 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 3.353 255 PASS . . . . . . . . . . . . FRG1B:uc010ztl.1:exon2:c.G31A:p.A11T . . . 0.489011 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.326 . @ . . . . . 1 0.260 . . 182.0 . . . . . . . . . . -0.3992 -0.398 -0.399 c . . . . . 5.052e-04 . . . 0.0011 0.0004 8.741e-05 0.0029 0.0003 0.0002 0 6.12e-05 0.0012 0.0003 9.016e-05 0.0021 0.0002 0.0001 0 6.153e-05 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.231 @ . . . 0.59 0.31 182 ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.843 . . . . T 0.020 0.001 . . 37 . 0.476 . . 0.433 . . . . 0.520 . . . . . . . . . . . . . . . 0.535 . . . . . . 0 . . 0.241 . . 0.276 . . . . . . 0 0.359 . . . . . 0.371 . 0.748 . HET 0.03 rs7266938 . . . . . . . . . . . . IX.57 . . I.68 I.68 . 0.230000 F5H5R5 . . . . . 0.432 . . . 0.0003 0.0001 3.006e-05 0 0.0010 0 6.335e-05 0.0002 6.552e-05 0 0 0 0 0 0 0 0 . . 0.547 . 1.250 1.250000 . . 0.230000 . . 1.0E-255 1.000 0.715 . 0.193 0.918 . 0.681 . 0.026 1.250 -0.891 . rs1138719 rs1138719 rs7266938 rs7266938 1 1538 10 1/0 0,233,252 +rs7266938 (chr20:29625877 G/A) 20 29625877 G A Transcript NR_132316.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) FRG1DP +rs77850078 20 29628177 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628177 29628177 Chr20(GRCh37):g.29628177C>T 529-50 529-50 NR_003579.1:n.529-50C>T p.? p.? 5 4 -50 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.753957 4.63455 0 Cryptic Acceptor Strongly Activated 29628187 1.94057 0.033086 77.5156 2.10931 0.093279 80.7982 rs77850078 yes no Frequency 1 0.000000 0 transition C T C>T 0.079 0.770 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.25 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77850078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs77850078 rs77850078 1 1538 10 1/0 0,237,255 +rs77850078 20 29628177 C T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29628177 29628177 Chr20(GRCh37):g.29628177C>T 429-50 429-50 NR_132316.1:n.429-50C>T p.? p.? 6 5 -50 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 4.74322 0 Cryptic Acceptor Strongly Activated 29628187 1.94057 0.033086 77.5156 2.10931 0.093279 80.7982 rs77850078 yes no Frequency 1 0.000000 0 transition C T C>T 0.079 0.770 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.25 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77850078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs77850078 rs77850078 1 1538 10 1/0 0,237,255 +rs371105330 20 29628181 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628181 29628181 Chr20(GRCh37):g.29628181C>T 529-46 529-46 NR_003579.1:n.529-46C>T p.? p.? 5 4 -46 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.753957 4.90634 0 Cryptic Acceptor Strongly Activated 29628187 1.94057 0.033086 77.5156 2.16011 0.063759 79.6188 29628184 -13.8503 rs371105330 yes no Frequency 1 0.000000 0 0.000070 0.000177 0.000037 0.000000 0.000230 0.000038 0.000050 0.000061 0.000204 0.000230 15 3 1 0 3 1 5 1 1 214588 16930 27084 8982 13060 26530 100740 16350 4912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 3 1 0 3 1 5 1 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.055 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.25263157 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.2427 . . . . . . . . 1.303e-03 . . . 0.0009 0.0010 0.0010 0.0019 0.0003 0.0013 0 0.0003 0.0011 0.0012 0.0009 0.0025 0.0005 0.0014 0 0.0003 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371105330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 7.76e-05 3.755e-05 0 0.0003 6.454e-05 5.65e-05 0.0002 3.769e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . rs371105330 rs371105330 1 1538 10 1/0 0,241,255 +rs371105330 20 29628181 C T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29628181 29628181 Chr20(GRCh37):g.29628181C>T 429-46 429-46 NR_132316.1:n.429-46C>T p.? p.? 6 5 -46 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.01501 0 Cryptic Acceptor Strongly Activated 29628187 1.94057 0.033086 77.5156 2.16011 0.063759 79.6188 29628184 -13.8503 rs371105330 yes no Frequency 1 0.000000 0 0.000070 0.000177 0.000037 0.000000 0.000230 0.000038 0.000050 0.000061 0.000204 0.000230 15 3 1 0 3 1 5 1 1 214588 16930 27084 8982 13060 26530 100740 16350 4912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 3 1 0 3 1 5 1 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.055 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.25263157 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.2427 . . . . . . . . 1.303e-03 . . . 0.0009 0.0010 0.0010 0.0019 0.0003 0.0013 0 0.0003 0.0011 0.0012 0.0009 0.0025 0.0005 0.0014 0 0.0003 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371105330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 7.76e-05 3.755e-05 0 0.0003 6.454e-05 5.65e-05 0.0002 3.769e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . rs371105330 rs371105330 1 1538 10 1/0 0,241,255 +rs76195463 20 29628185 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628185 29628185 Chr20(GRCh37):g.29628185A>G 529-42 529-42 NR_003579.1:n.529-42A>G p.? p.? 5 4 -42 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.753957 5.19134 0 New Acceptor Site 29628186 11.319 0.953356 93.2327 rs76195463 yes no Frequency 1 0.000000 0 0.000048 0.000485 0.000000 0.000000 0.000000 0.000033 0.000008 0.000000 0.000000 0.000485 13 11 0 0 0 1 1 0 0 273608 22678 34116 10092 18690 30218 125628 25776 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 11 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.024 -0.117 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.3075 . . . . . . . . 1.350e-03 . . . 0.0098 0.0015 0.0010 0.0007 0 0.0005 0 0.0009 0.0103 0.0012 0.0010 0.0007 0 0.0004 0 0.0009 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.57 0.23 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76195463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 5.358e-05 0 0 0 0 9.04e-06 0 3.309e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs76195463 rs76195463 1 1538 10 1/0 0,226,255 +rs76195463 20 29628185 A G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29628185 29628185 Chr20(GRCh37):g.29628185A>G 429-42 429-42 NR_132316.1:n.429-42A>G p.? p.? 6 5 -42 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.30001 0 New Acceptor Site 29628186 11.319 0.953356 93.2327 rs76195463 yes no Frequency 1 0.000000 0 0.000048 0.000485 0.000000 0.000000 0.000000 0.000033 0.000008 0.000000 0.000000 0.000485 13 11 0 0 0 1 1 0 0 273608 22678 34116 10092 18690 30218 125628 25776 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 11 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.024 -0.117 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.3075 . . . . . . . . 1.350e-03 . . . 0.0098 0.0015 0.0010 0.0007 0 0.0005 0 0.0009 0.0103 0.0012 0.0010 0.0007 0 0.0004 0 0.0009 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.57 0.23 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76195463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 5.358e-05 0 0 0 0 9.04e-06 0 3.309e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs76195463 rs76195463 1 1538 10 1/0 0,226,255 +rs190481836 20 29628216 G C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628216 29628216 Chr20(GRCh37):g.29628216G>C 529-11 529-11 NR_003579.1:n.529-11G>C p.? p.? 5 4 -11 3' 86.7742 8.69554 0.753957 4.96759 86.7742 9.35903 0.903552 6.01968 0.0915718 Cryptic Acceptor Weakly Activated 29628227 8.69554 0.753957 86.7742 9.35903 0.903552 86.7742 rs190481836 no no 0 0.000000 0 transversion G C G>C 0.992 0.770 185 PASS . . . . . . . . . . . . . . . . 0.12328767 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.2102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.62 0.36 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs190481836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs190481836 rs190481836 1 1538 10 1/0 0,212,255 +rs190481836 20 29628216 G C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29628216 29628216 Chr20(GRCh37):g.29628216G>C 429-11 429-11 NR_132316.1:n.429-11G>C p.? p.? 6 5 -11 3' 86.7742 IX.41 0.783666 5.07625 86.7742 X.76 0.915087 6.12835 0.0789281 Cryptic Acceptor Weakly Activated 29628227 IX.41 0.783666 86.7742 X.76 0.915087 86.7742 rs190481836 no no 0 0.000000 0 transversion G C G>C 0.992 0.770 185 PASS . . . . . . . . . . . . . . . . 0.12328767 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.2102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.62 0.36 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs190481836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs190481836 rs190481836 1 1538 10 1/0 0,212,255 +rs754561929 20 29628243 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29628243 29628243 Chr20(GRCh37):g.29628243T>C 545 545 NR_003579.1:n.545T>C 5 17 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.773487 5.29528 0.00863444 rs754561929 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 276794 23988 34418 10148 18866 30782 126350 25782 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 3.272 183 PASS . . . . . . . . . . . . . . . . 0.1183432 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.490 . @ . . . . . 1 0.633 . . 169.0 . . . . . . . . . . -0.1877 -0.159 -0.188 c . . . . . 7.893e-05 . . . 0.0002 5.531e-05 0 0 0 7.141e-05 0 0 0.0002 4.723e-05 0 0 0 5.533e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.260 @ . . . . . . ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.452 . . . . T 0.041 0.002 . . 37 . 0.384 . . 0.251 . . . . 0.457 . . . . . . . . . . . . . . . 0.648 . . . . . . 0 . . 0.275 . . 0.357 . . . . . . 0 0.413 . . . . . 0.297 . 0.710 . LowAF 0.03 rs754561929 . . . . . . . . . . . . 8.0833 . . 2.VIII 2.VIII . 0.180000 . . . . . . 0.446 . . 2.VIII 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.988 . 1.208 1.208000 . . 0.180000 . . 1.0E-183 1.000 0.715 . 0.625 0.994 . 0.780 . 0.286 1.208 0.732 . . . . . 1 1538 10 1/0 0,205,255 +rs754561929 20 29628243 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29628243 29628243 Chr20(GRCh37):g.29628243T>C 445 445 NR_132316.1:n.445T>C 6 17 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.801207 5.40395 0.00746109 rs754561929 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 276794 23988 34418 10148 18866 30782 126350 25782 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 3.272 183 PASS . . . . . . . . . . . . . . . . 0.1183432 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.490 . @ . . . . . 1 0.633 . . 169.0 . . . . . . . . . . -0.1877 -0.159 -0.188 c . . . . . 7.893e-05 . . . 0.0002 5.531e-05 0 0 0 7.141e-05 0 0 0.0002 4.723e-05 0 0 0 5.533e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.260 @ . . . . . . ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.452 . . . . T 0.041 0.002 . . 37 . 0.384 . . 0.251 . . . . 0.457 . . . . . . . . . . . . . . . 0.648 . . . . . . 0 . . 0.275 . . 0.357 . . . . . . 0 0.413 . . . . . 0.297 . 0.710 . LowAF 0.03 rs754561929 . . . . . . . . . . . . 8.0833 . . 2.VIII 2.VIII . 0.180000 . . . . . . 0.446 . . 2.VIII 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.988 . 1.208 1.208000 . . 0.180000 . . 1.0E-183 1.000 0.715 . 0.625 0.994 . 0.780 . 0.286 1.208 0.732 . . . . . 1 1538 10 1/0 0,205,255 +rs74920001 20 29628254 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29628254 29628254 Chr20(GRCh37):g.29628254A>G 556 556 NR_003579.1:n.556A>G 5 28 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.753957 5.59477 0 Cryptic Acceptor Strongly Activated 29628268 0.512643 3.02226 0.540567 70.8554 rs74920001 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 1.900 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.145 . @ . . . . . 1 0.068 . . 170.0 . . . . . . . . . . -0.4675 -0.380 -0.467 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.260 @ . . . 0.67 0.37 182 ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.843 . . . . T 0.016 0.001 . . 37 . 0.183 . . 0.168 . . . . 0.406 . . . . . . . . . . . . . . . 0.048 . . . . . . 0 . . 0.172 . . 0.203 . . . . . . 0 0.022 . . . . . 0.297 . 0.572 . LowAF 0.96 rs74920001 . . . . . . . . . . . . 8.0833 . . 2.VIII 2.VIII . 1.000000 . . . . . . 0.324 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.988 . 1.208 1.208000 . . 1.000000 . . 1.0E-176 1.000 0.715 . 0.523 0.999 . 0.600 . 0.294 1.208 0.780 . . . rs74920001 rs74920001 1 1538 10 1/0 0,204,255 +rs74920001 20 29628254 A G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29628254 29628254 Chr20(GRCh37):g.29628254A>G 456 456 NR_132316.1:n.456A>G 6 28 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.70344 0 Cryptic Acceptor Strongly Activated 29628268 0.515411 3.02226 0.566494 70.8554 rs74920001 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 1.900 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.145 . @ . . . . . 1 0.068 . . 170.0 . . . . . . . . . . -0.4675 -0.380 -0.467 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.260 @ . . . 0.67 0.37 182 ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.843 . . . . T 0.016 0.001 . . 37 . 0.183 . . 0.168 . . . . 0.406 . . . . . . . . . . . . . . . 0.048 . . . . . . 0 . . 0.172 . . 0.203 . . . . . . 0 0.022 . . . . . 0.297 . 0.572 . LowAF 0.96 rs74920001 . . . . . . . . . . . . 8.0833 . . 2.VIII 2.VIII . 1.000000 . . . . . . 0.324 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.988 . 1.208 1.208000 . . 1.000000 . . 1.0E-176 1.000 0.715 . 0.523 0.999 . 0.600 . 0.294 1.208 0.780 . . . rs74920001 rs74920001 1 1538 10 1/0 0,204,255 +rs79254137 20 29628336 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution splice site GRCh37 29628336 29628336 Chr20(GRCh37):g.29628336T>C 633+5 633+5 NR_003579.1:n.633+5T>C p.? p.? 5 5 5 5' 82.2818 8.99306 0.977393 0.904114 81.9786 X.32 0.977869 1.08682 0.0434168 rs79254137 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244324 14936 33532 9800 17208 30710 110400 22288 5450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 168 Exomes transition T C T>C 0.890 0.448 187 PASS . . . . . . . . . . . . . . . . 0.12883435 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.4908 . . . . . . . . 1.579e-05 . . . 0 2.237e-05 0.0002 0 0 0 0 0 0 1.909e-05 0.0002 0 0 0 0 0 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.6 0.31 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs79254137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs79254137 rs79254137 1 1538 10 1/0 0,208,255 +rs79254137 20 29628336 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution downstream GRCh37 29628336 29628336 Chr20(GRCh37):g.29628336T>C *5 *5 NR_132316.1:n.*5T>C p.? p.? 6 110 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.07625 0 rs79254137 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244324 14936 33532 9800 17208 30710 110400 22288 5450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 168 Exomes transition T C T>C 0.890 0.448 187 PASS . . . . . . . . . . . . . . . . 0.12883435 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.4908 . . . . . . . . 1.579e-05 . . . 0 2.237e-05 0.0002 0 0 0 0 0 0 1.909e-05 0.0002 0 0 0 0 0 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.6 0.31 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs79254137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs79254137 rs79254137 1 1538 10 1/0 0,208,255 +rs77720423 20 29628374 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628374 29628374 Chr20(GRCh37):g.29628374G>A 633+43 633+43 NR_003579.1:n.633+43G>A p.? p.? 5 5 43 5' 82.2818 8.99306 0.977393 0.904114 82.2818 8.99306 0.977393 1.1086 0 Cryptic Donor Strongly Activated 29628376 2.89923 0.013208 67.272 3.24636 0.025657 70.02 rs77720423 yes no Frequency 1 0.000000 0 0.000097 0.000618 0.000060 0.000000 0.000057 0.000034 0.000060 0.000000 0.000163 0.000618 25 13 2 0 1 1 7 0 1 258226 21038 33452 9876 17454 29148 115862 25252 6144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 13 2 0 1 1 7 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.279 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.2206 . . . . . . . . 1.330e-03 . . . 0.0040 0.0011 0.0015 0.0003 0.0020 0.0006 0.0017 0.0006 0.0042 0.0010 0.0014 0.0004 0.0013 0.0006 0 0.0006 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.3 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs77720423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0001 6.132e-05 0 6.316e-05 0 6.94e-05 0.0002 3.431e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs77720423 rs77720423 1 1538 10 1/0 0,215,255 +rs77720423 20 29628374 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution downstream GRCh37 29628374 29628374 Chr20(GRCh37):g.29628374G>A *43 *43 NR_132316.1:n.*43G>A p.? p.? 6 148 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.07625 0 Cryptic Donor Strongly Activated 29628376 2.89923 0.013208 67.272 3.24636 0.025657 70.02 rs77720423 yes no Frequency 1 0.000000 0 0.000097 0.000618 0.000060 0.000000 0.000057 0.000034 0.000060 0.000000 0.000163 0.000618 25 13 2 0 1 1 7 0 1 258226 21038 33452 9876 17454 29148 115862 25252 6144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 13 2 0 1 1 7 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.279 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.2206 . . . . . . . . 1.330e-03 . . . 0.0040 0.0011 0.0015 0.0003 0.0020 0.0006 0.0017 0.0006 0.0042 0.0010 0.0014 0.0004 0.0013 0.0006 0 0.0006 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.3 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs77720423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0001 6.132e-05 0 6.316e-05 0 6.94e-05 0.0002 3.431e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs77720423 rs77720423 1 1538 10 1/0 0,215,255 +rs79702103 20 29628415 T A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628415 29628415 Chr20(GRCh37):g.29628415T>A 633+84 633+84 NR_003579.1:n.633+84T>A p.? p.? 5 5 84 5' 82.2818 8.99306 0.977393 0.904114 82.2818 8.99306 0.977393 0.904114 0 New Acceptor Site 29628417 3.71265 0.074701 81.1624 rs79702103 yes no Frequency 1 0.000000 0 transversion T A T>A 0.118 0.367 207 PASS . . . . . . . . . . . . . . . . 0.17741935 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.0016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.46 0.25 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79702103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs79702103 rs79702103 1 1538 10 1/0 0,224,255 +rs79702103 20 29628415 T A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution downstream GRCh37 29628415 29628415 Chr20(GRCh37):g.29628415T>A *84 *84 NR_132316.1:n.*84T>A p.? p.? 6 189 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.07625 0 New Acceptor Site 29628417 3.71265 0.074701 81.1624 rs79702103 yes no Frequency 1 0.000000 0 transversion T A T>A 0.118 0.367 207 PASS . . . . . . . . . . . . . . . . 0.17741935 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.0016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.46 0.25 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79702103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs79702103 rs79702103 1 1538 10 1/0 0,224,255 +rs78434176 20 29628439 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628439 29628439 Chr20(GRCh37):g.29628439A>G 633+108 633+108 NR_003579.1:n.633+108A>G p.? p.? 5 5 108 5' 82.2818 8.99306 0.977393 0.904114 82.2818 8.99306 0.977393 0.904114 0 rs78434176 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.360 214 PASS . . . . . . . . . . . . . . . . 0.19767442 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.1738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.22 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs78434176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs78434176 rs78434176 1 1538 10 1/0 0,242,255 +rs78434176 20 29628439 A G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution downstream GRCh37 29628439 29628439 Chr20(GRCh37):g.29628439A>G *108 *108 NR_132316.1:n.*108A>G p.? p.? 6 213 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.07625 0 rs78434176 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.360 214 PASS . . . . . . . . . . . . . . . . 0.19767442 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.1738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.22 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs78434176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs78434176 rs78434176 1 1538 10 1/0 0,242,255 +rs3954426 20 29630598 A T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630598 29630598 Chr20(GRCh37):g.29630598A>T 634-940 634-940 NR_003579.1:n.634-940A>T p.? p.? 6 5 -940 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs3954426 no no 0 0.000000 0 transversion A T A>T 0.016 0.770 246 PASS . . . . . . . . . . . . . . . . 0.29333332 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . -0.1440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.48 0.14 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs3954426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . rs3954426 rs3954426 rs3954426 rs3954426 1 1538 10 1/0 0,255,255 +rs73605237 20 29630609 C A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630609 29630609 Chr20(GRCh37):g.29630609C>A 634-929 634-929 NR_003579.1:n.634-929C>A p.? p.? 6 5 -929 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs73605237 no no 0 0.000000 0 transversion C A C>A 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.4241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.19 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73605237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35732268 rs35732268 rs4066187 rs35732268 1 1538 10 1/0 0,255,255 +rs202212672 20 29630649 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630649 29630649 Chr20(GRCh37):g.29630649G>A 634-889 634-889 NR_003579.1:n.634-889G>A p.? p.? 6 5 -889 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 Cryptic Acceptor Strongly Activated 29630660 0.00031 1.19507 0.000186 62.7184 rs202212672 yes no Frequency 1 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000045 0.000022 0.000000 0.000000 0.000045 2 0 0 0 0 1 1 0 0 123774 5896 23624 7882 9846 22448 45242 5326 3510 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 127 Exomes transition G A G>A 0.047 1.013 255 PASS . . . . . . . . . . . . . . . . 0.36936936 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . 0.0343 . . . . . . . . 5.123e-05 . . . 0 9.121e-05 0 0 0 0 0 0.0001 0 9.114e-05 0 0 0 0 0 0.0001 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.16 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs202212672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.616e-05 0 0 0 0 2.21e-05 0 4.455e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs202212672 rs202212672 1 1538 10 1/0 0,244,255 +rs74733909 20 29630666 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630666 29630666 Chr20(GRCh37):g.29630666T>C 634-872 634-872 NR_003579.1:n.634-872T>C p.? p.? 6 5 -872 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs74733909 yes no Frequency 1 0.000000 0 0.000453 0.000000 0.000819 0.000000 0.000000 0.000178 0.000683 0.000340 0.000447 0.000819 70 0 20 0 0 4 41 3 2 154476 14620 24420 8178 11468 22422 60068 8822 4478 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 0 20 0 0 4 41 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.37190083 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . -0.1930 . . . . . . . . 3.714e-04 . . . 0 0.0004 0 0 0 0.0007 0 0.0003 0 0.0003 0 0 0 0.0004 0 0.0003 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.52 0.13 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs74733909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0008 0 0 0.0002 0.0008 0.0006 0.0002 0 0.0003 0.0012 0 0 0.0006 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74733909 rs74733909 1 1538 10 1/0 0,241,255 +rs80344232 20 29630681 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630681 29630681 Chr20(GRCh37):g.29630681G>A 634-857 634-857 NR_003579.1:n.634-857G>A p.? p.? 6 5 -857 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs80344232 yes no Frequency 1 0.000000 0 0.000019 0.000068 0.000041 0.000000 0.000000 0.000045 0.000000 0.000000 0.000000 0.000068 3 1 1 0 0 1 0 0 0 154622 14610 24456 8180 11468 22406 60192 8820 4490 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.40151516 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . -0.4412 . . . . . . . . 4.288e-04 . . . 0 0.0007 0 0 0 0 0 0.0011 0 0.0007 0 0 0 0 0 0.0011 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.13 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs80344232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.617e-05 4.233e-05 0 0 0 0 0 4.463e-05 0.0001 3.232e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80344232 rs80344232 1 1538 10 1/0 0,240,255 +rs73605240 20 29630701 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630701 29630701 Chr20(GRCh37):g.29630701C>T 634-837 634-837 NR_003579.1:n.634-837C>T p.? p.? 6 5 -837 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs73605240 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 -0.924 108 PASS . . . . . . . . . . . UNKNOWN . . . . 0.14285715 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.4383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . . . exonic intronic ncRNA_intronic . . . @ . . . 0.48 0.16 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs73605240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-108 . . . . . . . . . . . . rs521590 rs521590 rs73605240 rs73605240 1 1538 10 1/0 0,224,255 +rs796703292 20 29630718 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630718 29630718 Chr20(GRCh37):g.29630718C>T 634-820 634-820 NR_003579.1:n.634-820C>T p.? p.? 6 5 -820 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 Cryptic Acceptor Strongly Activated 29630718 4.95367 0.054045 78.319 V.77 0.081533 77.8333 rs796703292 no no 0 0.000000 0 transition C T C>T 0.000 -1.086 176 PASS . . . . . . . . . . . . . . . . 0.171875 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.4153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.54 0.45 182 ENSG00000149531 FRG1B FRG1BP ENST00000479318:c.*11C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs550938 rs550938 . . 1 1538 10 1/0 0,223,255 +rs10084539 20 29630758 C G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630758 29630758 Chr20(GRCh37):g.29630758C>G 634-780 634-780 NR_003579.1:n.634-780C>G p.? p.? 6 5 -780 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs10084539 no no 0 0.000000 0 transversion C G C>G 0.028 -1.247 200 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.3906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.53 0.53 182 ENSG00000149531 FRG1B FRG1BP ENST00000479318:c.*51C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs10084539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs10084539 rs10084539 rs10084539 rs10084539 1 1538 10 1/0 0,221,255 +rs137900323 20 29630760 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630760 29630760 Chr20(GRCh37):g.29630760T>C 634-778 634-778 NR_003579.1:n.634-778T>C p.? p.? 6 5 -778 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs137900323 no no 0 0.000000 0 transition T C T>C 0.083 0.851 188 PASS . . . . . . . . . . . . . . . . 0.1300813 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . -0.0668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.56 0.57 182 ENSG00000149531 FRG1B FRG1BP ENST00000479318:c.*53T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs137900323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs137900323 rs137900323 1 1538 10 1/0 0,220,255 +rs73598387 20 29632632 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632632 29632632 Chr20(GRCh37):g.29632632A>G 747 747 NR_003579.1:n.747A>G 7 22 3' 93.2901 6.94493 0.814883 0 93.2901 6.94493 0.814883 0 0 rs73598387 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000125 0.000000 0.000000 0.000000 0.000000 0.000000 0.000268 0.000000 0.000173 0.000268 32 0 0 0 0 0 31 0 1 256152 18770 33926 9958 17522 30688 115472 24032 5784 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 0 0 0 0 0 31 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 0.286 194 PASS . . . . . 0.0008 0.0002 . . . . . FRG1B:uc010ztk.1:exon4:c.A213G:p.Q71Q . . . 0.14375 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 160.0 . . . . . . . . . . 0.9430 . . . . . . . . 2.378e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . 0.0002 . . . 0.54 0.31 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs73598387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.109e-06 0 0 0 0 9.101e-06 0 0 0 0.0024 0 0 0 0 0.0054 0.0029 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . rs71218866 rs71218866 rs71218866 1 1538 10 1/0 0,210,255 +rs375238322 20 29632635 C G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632635 29632635 Chr20(GRCh37):g.29632635C>G 750 750 NR_003579.1:n.750C>G 7 25 3' 93.2901 6.94493 0.814883 0 93.2901 6.94493 0.814883 0 0 rs375238322 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243474 14580 33550 9758 17218 30710 109920 22296 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 270 Exomes transversion C G C>G 1.000 1.013 192 PASS . . . . . . . . . . . . FRG1B:uc010ztk.1:exon4:c.C216G:p.D72E . . . 0.14012739 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.533 . @ . . . . . 1 0.625 . . 157.0 . . . . . . . . . . -0.1001 -0.215 -0.100 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.118 @ . . . . . . ENSG00000149531 FRG1B FRG1BP . . . 0.999 0.371 . . . . . . . . . 0 . 0.843 . . . . T 0.024 0.001 . . 37 . 0.483 . . 0.420 . . . . 0.398 . . . . . . . . . . . . . . . 0.630 . . . . . . 0 . . 0.472 . . 0.489 . . . . . . 2 0.518 . . . . . 0.140 . 0.688 . LowAF 0.05 rs375238322 . . . . . . . . . . . . 5.1111 . . I.44 -0.392 . 0.110000 Q9BZ01 . . . . . 0.316 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.547 . -0.105 -0.105000 . . 0.110000 . . 9.999999999999999E-193 1.000 0.715 . 0.653 1.000 . 0.264 . 0.281 -0.105 0.646 . . . rs375238322 rs375238322 1 1538 10 1/0 0,210,255 +rs796333808 20 29632660 G T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632660 29632660 Chr20(GRCh37):g.29632660G>T 775 775 NR_003579.1:n.775G>T 7 50 3' 93.2901 6.94493 0.814883 0 93.2901 6.94493 0.814883 0 0 rs796333808 no no 0 0.000000 0 transversion G T G>T 1.000 3.676 182 PASS . . . . . . . . . . . . FRG1B:uc010ztk.1:exon4:c.G241T:p.E81X . . . 0.11794872 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.989 . @ . . . . . 0 0.743 . . 195.0 . . . . . . . . . . 0.7771 0.504 0.777 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . . exonic exonic ncRNA_exonic . . 0.215 @ . . . . . . ENSG00000149531 FRG1B FRG1BP . . . 1.000 0.747 . . . . . . . . . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . 0.343 . . . LowAF 0.08 . . . . . . . . . . . . . VIII.73 . . I.44 I.44 . 0.040000 . . . . . . 0.507 . . . . . . . . . . . . . . . . . . . . . . 0.547 . 1.120 1.120000 . . 0.040000 . . 1.0E-182 1.000 0.715 . 0.562 0.994 . 0.744 . 0.094 1.120 0.676 . . . . . 1 1538 10 1/0 0,199,255 +rs73598388 20 29632673 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632673 29632673 Chr20(GRCh37):g.29632673T>C 788 788 NR_003579.1:n.788T>C 7 -49 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 rs73598388 yes no Frequency 1 0.000000 0 0.000071 0.000000 0.000000 0.000100 0.000000 0.000000 0.000142 0.000000 0.000163 0.000142 19 0 0 1 0 0 17 0 1 266392 22458 34204 9990 18232 30728 119554 25090 6136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 0 1 0 0 17 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.984 2.950 174 PASS . . . . . . . . . . . . FRG1B:uc010ztk.1:exon4:c.T254C:p.L85P . . . 0.101265825 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.769 . @ . . . . . 1 0.960 . . 237.0 . . . . . . . . . . 0.3604 0.234 0.360 c . . . . . 3.170e-05 . . . 0 4.574e-05 0 0 0 0 0 0.0002 0 3.884e-05 0 0 0 0 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.215 @ . . . 0.63 0.42 182 ENSG00000149531 FRG1B FRG1BP . . . 1.000 0.747 . . . . . . . . . 0 . 0.629 . . . . T 0.234 0.009 . . 37 . 0.693 . . 0.696 . . . . 0.810 . . . . . . . . . . . . . . . 0.832 . . . . . . 0 . . 0.899 . . 0.875 . . . . . . 2 0.574 . . . . . 0.237 . 0.799 . LowAF 0 rs73598388 . . . . . . . . . . . . VI.31 . . I.44 I.44 . 0.000000 Q9BZ01 . . . . . 0.457 . . . 0 0 0 0 0 0 0 0 0 0 0.0008 0 0.0044 0 0 0.0018 0.0014 . . 0.547 . 0.925 0.925000 . . 0.000000 . . 1.0E-174 1.000 0.715 . 0.653 0.923 . 0.751 . 0.285 0.925 0.732 . . rs71218867 rs71218867 rs71218867 1 1538 10 1/0 0,189,255 +rs6057187 20 29632707 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632707 29632707 Chr20(GRCh37):g.29632707G>A 822 822 NR_003579.1:n.822G>A 7 -15 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 rs6057187 yes no Frequency 1 0.000000 0 0.002547 0.000495 0.004894 0.002957 0.002048 0.009251 0.001385 0.000396 0.002077 0.009251 640 11 135 26 35 248 163 10 12 251250 22216 27582 8794 17086 26808 117730 25256 5778 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 640 11 135 26 35 248 163 10 12 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 1.013 239 PASS . . . . . . . . . . . . FRG1B:uc010ztk.1:exon4:c.G288A:p.E96E . . . 0.26811594 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 276.0 . . . . . . . . . . 0.7482 . . . . . . . . 2.144e-03 . . . 0.0015 0.0014 0.0002 0.0005 0 0.0023 0.0044 0.0002 0.0015 0.0002 9.091e-05 0 0 0.0002 0.0015 0.0001 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.55 0.29 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs6057187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0029 0.0050 0.0031 0.0023 0.0005 0.0016 0.0025 0.0093 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs6057187 rs6057187 rs6057187 rs6057187 1 1538 10 1/0 0,198,255 +rs144938385 20 29632749 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29632749 29632749 Chr20(GRCh37):g.29632749A>G 836+28 836+28 NR_003579.1:n.836+28A>G p.? p.? 7 7 28 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 Cryptic Acceptor Weakly Activated 29632757 5.42663 0.58684 85.7742 V.55 0.681421 85.7742 rs144938385 yes no Frequency 1 0.000000 0 0.000039 0.000000 0.000099 0.000110 0.000000 0.000109 0.000009 0.000000 0.000195 0.000110 9 0 3 1 0 3 1 0 1 230172 14038 30372 9112 16418 27398 105720 21976 5138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 3 1 0 3 1 0 1 0 0 0 0 0 0 0 0 0 RF 261 Exomes transition A G A>G 0.252 0.286 185 PASS . . . . . . . . . . . . . . . . 0.124 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 250.0 . . . . . . . . . . -0.0921 . . . . . . . . 7.203e-05 . . . 0 3.483e-05 0 0 0 5.074e-05 0.0015 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.21 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs144938385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.91e-05 9.878e-05 0.0001 0 0 9.459e-06 0.0002 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs144938385 rs144938385 1 1538 10 1/0 0,189,255 +rs111700236 20 29632751 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29632751 29632751 Chr20(GRCh37):g.29632751T>C 836+30 836+30 NR_003579.1:n.836+30T>C p.? p.? 7 7 30 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 rs111700236 no no 0 0.000000 0 transition T C T>C 0.189 -0.117 184 PASS . . . . . . . . . . . . . . . . 0.12145749 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 247.0 . . . . . . . . . . -0.1886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.52 0.27 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs111700236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . rs111700236 rs111700236 1 1538 10 1/0 0,189,255 +rs12162440 20 29632792 C G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29632792 29632792 Chr20(GRCh37):g.29632792C>G 836+71 836+71 NR_003579.1:n.836+71C>G p.? p.? 7 7 71 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 rs12162440 no no 0 0.000000 0 transversion C G C>G 0.512 0.448 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 195.0 . . . . . . . . . . 0.0158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.54 0.27 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs12162440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs12162440 rs12162440 rs12162440 rs12162440 1 1538 10 1/0 0,201,255 +rs60081496 20 29633900 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29633900 29633900 Chr20(GRCh37):g.29633900A>G 839 839 NR_003579.1:n.839A>G 8 3 3' 72.67 2.49874 0.002898 0 72.67 2.22181 0.001533 0 -0.193947 rs60081496 yes no Frequency 1 0.000000 0 0.000306 0.000066 0.000543 0.000107 0.000060 0.000803 0.000252 0.000046 0.000190 0.000803 72 1 17 1 1 23 27 1 1 235406 15062 31320 9374 16572 28642 107246 21926 5264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 1 17 1 1 23 27 1 1 0 0 0 0 0 0 0 0 0 RF 132 Exomes transition A G A>G 1.000 1.093 224 PASS . . . . . . . . . . . . . . . . 0.22580644 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.393 . @ . . . . . 1 0.306 . . 124.0 . . . . . . . . . . 0.7101 0.429 0.710 c . . . . . 4.169e-03 . . . 0.0013 0.0030 0.0019 0.0024 0.0013 0.0045 0.0044 0.0016 0.0012 0.0020 0.0018 0.0012 0.0009 0.0025 0 0.0016 nonsynonymous_SNV . . . . . exonic intronic ncRNA_exonic . . 0.227 @ . . . 0.55 0.22 182 ENSG00000149531 FRG1B FRG1BP . . . 1.000 0.517 . . . . . . . . . 0 . . . . . . T 0.073 0.003 . . 37 . 0.409 . . 0.363 . . . . 0.209 . . . . . . . . . . . . . . . 0.373 . . . . . . 0 . . . . . . . . . . . . 1 0.120 . . . . . 0.254 . 0.494 . HET 0.16 rs60081496 . . . . . . . . . . . . VII.88 . . I.62 I.62 . 0.000000 . . . . . . 0.416 . . . 6.639e-05 0.0003 0.0005 0.0001 6.034e-05 4.561e-05 0.0003 0.0002 0.0008 . . . . . . . . . . 0.547 . 0.995 0.995000 . . 0.000000 . . 1.0E-224 1.000 0.715 . 0.456 0.992 . 0.611 . 0.293 0.995 0.780 . rs4006819 rs4006819 rs60081496 rs60081496 1 1538 10 1/0 0,228,255 +. 20 29633966 GTTT G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 deletion exon GRCh37 29633974 29633976 Chr20(GRCh37):g.29633974_29633976del 913 915 NR_003579.1:n.913_915del 8 77 3' 72.67 2.49874 0.002898 0 72.67 2.49874 0.002898 0 0 rs61684852 no no 0 0.000000 0 TTT 255 Pass . . . . . . . . . . . . . . . . 0.7847222 . . . 113 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_exonic . . . . . . . . . . ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs61684852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4010960 rs4010960 rs61684852 rs61684852 1 1538 10 1.I 0,8,11 +rs2379676 20 29633986 A C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29633986 29633986 Chr20(GRCh37):g.29633986A>C 925 925 NR_003579.1:n.925A>C 8 89 3' 72.67 2.49874 0.002898 0 72.67 2.49874 0.002898 0 0 Cryptic Acceptor Strongly Activated 29633994 1.29991 8.6e-05 65.6908 1.95156 0.001299 69.0607 rs2379676 yes no Frequency/1000G 2 0.000000 0 0.486422 0.493200 0.496900 0.468300 0.482100 0.491400 transversion A C A>C 1.000 2.062 239 PASS . . . . . 0.49 0.49 0.49 0.47 0.48 0.5 . . . . . 0.26923078 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 130.0 . . . . . . . . . . 0.5038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_exonic . . . 0.4864 . . . 0.62 0.61 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs2379676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs2379676 rs2379676 rs2379676 rs2379676 1 1538 10 1/0 0,231,255 +rs4006816 20 29634037 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution downstream GRCh37 29634037 29634037 Chr20(GRCh37):g.29634037G>A *30 *30 NR_003579.1:n.*30G>A p.? p.? 8 140 3' 72.67 2.49874 0.002898 0 72.67 2.49874 0.002898 0 0 rs4006816 yes no Frequency 1 0.000000 0 transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.3263158 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . . . . . . . . . -0.1758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic downstream . . . @ . . . 0.51 0.33 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4006816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4006816 rs4006816 rs4006816 rs4006816 1 1538 10 1/0 0,250,255 +rs376631284 (chr20:29652169 C/A) 20 29652169 C A Not on a known gene +rs35182221 20 30437726 C T - DUSP15 16236 Dual specificity phosphatase 15 NM_001320479.1 -1 1732 888 NP_001307408.1 Q9H1R2 substitution intron GRCh37 30437726 30437726 Chr20(GRCh37):g.30437726C>T 492-49 492-49 NM_001320479.1:c.492-49G>A p.? p.? 8 7 616776 -49 3' 77.847 XI.36 0.932645 XII.08 77.847 XI.36 0.932645 XI.73 0 rs35182221 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.002000 0.000000 0.003000 0.000000 0.000851 0.000181 0.000193 0.000000 0.000000 0.000842 0.001283 0.001468 0.001686 0.001468 69 2 2 0 0 5 49 7 4 81066 11038 10344 988 7436 5938 38180 4770 2372 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 2 2 0 0 5 49 7 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3915 1700 5615 3 0 3 0.000765697 0 0.000533998 0.000765697 0 0.000533998 5 transition G A G>A 0.000 -0.763 255 PASS . 0.0023 . . 0.01 . 0.001 . . 0.003 0.002 . . . . . 0.60227275 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 88.0 . . UPSTREAM(MODIFIER||||FOXS1|mRNA|CODING|NM_004118|) . 0.0005 0.0008 . 0.0005 0.0008 . -0.0058 . . . . . . . . 7.927e-04 . . . 0 0.0018 0.0010 0 0.0056 0.0028 0 0.0014 0 0.0027 0.0010 0 0.0031 0.0037 0.0263 0.0014 . . . . . . intronic intronic intergenic . . . 0.0010 . . . 0.35 0.46 182 ENSG00000149599 DUSP15 . . . dist\x3d4306\x3bdist\x3d11144 . . . 51 0.000784905 64976 46 0.000766846 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35182221 . . . . . . . . . . . . . . . . . . . . . . . 0.000534 . . . . . 0.0004 0.0009 0.0002 0 0 0.0024 0.0014 0.0022 0.0008 0.0001 0.0007 0 0 0 0.0011 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs35182221 rs35182221 rs35182221 rs35182221 1 1538 10 1/0 0,255,255 +rs536823410 20 30525417 G A - TTLL9 16118 Tubulin tyrosine ligase like 9 NM_001008409.3 1 3584 1320 NP_001008409.1 Q3SXZ7 substitution intron GRCh37 30525417 30525417 Chr20(GRCh37):g.30525417G>A 1118+105 1118+105 NM_001008409.3:c.1118+105G>A p.? p.? 13 13 105 5' 87.5642 8.40856 0.98539 7.17713 87.5642 8.40856 0.98539 7.17713 0 rs536823410 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000355 0.000229 0.000000 0.000000 0.000000 0.000000 0.000600 0.000000 0.000000 0.000600 11 2 0 0 0 0 9 0 0 30960 8728 838 302 1622 0 14994 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 1.981 255 PASS . . . . . . 0.0004 . . . 0.002 . . . . . 0.4 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||TTLL9|mRNA|CODING|NM_001008409|) . . . . . . . 0.2718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000131044 TTLL9 TTLL9 . . . . . . 19 0.000292416 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536823410 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833952 . . . . . 3.VIII . . . . . . . . . 0.0002 0.0004 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149889663 20 31596430 T A - BPIFB2 16177 BPI fold containing family B, member 2 NM_025227.2 1 1920 1377 NP_079503.1 Q8N4F0 substitution missense exon GRCh37 31596430 31596430 Chr20(GRCh37):g.31596430T>A 50 50 NM_025227.2:c.50T>A p.Val17Glu p.Val17Glu 2 614108 -60 5' 85.0005 9.88537 0.996679 7.07445 85.0005 9.88537 0.996679 7.22771 0 Cryptic Donor Strongly Activated 31596431 0.888704 0.002914 68.4711 5.43728 0.162845 76.9822 rs149889663 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.000800 0.003100 0.000000 0.010900 0.005800 0.005283 0.001454 0.003727 0.010649 0.000055 0.003509 0.006167 0.010078 0.007427 0.010649 1390 33 125 105 1 102 739 239 46 263118 22702 33538 9860 18202 29072 119834 23716 6194 0.000091 0.000000 0.000119 0.000000 0.000000 0.000069 0.000117 0.000169 0.000000 12 0 2 0 0 1 7 2 0 1366 33 121 105 1 100 725 235 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4401 12944 57 3 60 0.00662791 0.000681199 0.00461396 0.00662791 0.000681199 0.00461396 38 transversion T A T>A 0.000 -0.117 V Val GTG 0.468 E Glu GAG 0.583 17 11 9 Dog -3 -2 -4 0 0.92 5.IX 12.III 84 83 121 C0 353.86 0.00 Deleterious 0 IV.32 bad 1.377E-5 0.0001772 255 PASS . 0.0046 . . 0.01 0.0008 0.0038 0.0058 . 0.011 0.0031 ENSG00000078898:ENST00000170150:exon2:c.T50A:p.V17E BPIFB2:uc002wyj.4:exon2:c.T50A:p.V17E BPIFB2:NM_025227:exon2:c.T50A:p.V17E . . 0.6015625 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.315 . @ . . . . . 1 0.314 . . 128.0 . . . 0.0007 0.0046 0.0066 0.0007 0.0046 0.0066 . -0.9219 -0.988 -0.922 c . . . . . 4.768e-03 . . . 0.0017 0.0083 0.0054 0 0.0242 0.0117 0.0101 0.0054 0.0014 0.0081 0.0051 0 0.0226 0.0107 0.0084 0.0055 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.114 0.0038 . . . 0.26 0.63 182 ENSG00000078898 BPIFB2 BPIFB2 . . . 1.000 0.747 . 468 0.00720266 64976 449 0.00748508 59986 Likely_benign . 0 . 0.019 . . . . . . . . . 37 . 0.009 . . 0.452 . . . 0.530 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.395 . . 0 0 0 0 0 0 . 0.263 . . 0.220 . . . . . . 0 0.296 . . . . . 0.059 . 0.407 . HET 0.15 rs149889663 0.022 0.014 . . . . . 0.004578754578754579 0.0 0.0 0.0 0.013192612137203167 3.1072 2.68E-4 ENST00000170150 IV.37 -0.49 . 0.090000 Q8N4F0 . . . 0.004614 . 0.143 . . . 0.0014 0.0054 0.0037 0.0108 6.031e-05 0.0098 0.0063 0.0071 0.0035 0.0015 0.0047 0.0048 0.0066 0 0.0114 0.0052 0.0092 . . 0.283 . -0.105 -0.105000 . . 0.090000 . . 1.0E-255 0.000 0.063 . 0.100 0.010 . 0.070 . 0.752 -0.105 0.673 0.022 . . rs149889663 rs149889663 1 1538 10 1/0 0,246,245 +rs55823624 20 31643355 T C - BPIFB3 16178 BPI fold containing family B, member 3 NM_182658.2 1 1556 1431 NP_872599.1 P59826 substitution splice site GRCh37 31643355 31643355 Chr20(GRCh37):g.31643355T>C 124+2 124+2 NM_182658.2:c.124+2T>C p.? p.? 1 1 615717 2 5' 89.5524 9.59704 0.995199 XI.11 80.0669 0 0 0 -0.701974 rs55823624 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.002000 0.001400 0.001190 0.000375 0.000523 0.000000 0.000000 0.001007 0.002055 0.000198 0.000929 0.002055 329 9 18 0 0 31 260 5 6 276394 24020 34418 10150 18864 30780 126500 25206 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 329 9 18 0 0 31 260 5 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4404 12983 21 2 23 0.00244186 0.000453926 0.00176841 0.00244186 0.000453926 0.00176841 70 transition T C T>C 1.000 2.304 255 PASS . 0. . . . . 0.0008 0.0014 . 0.002 0.001 . . . . . 0.41666666 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.602 . @ . . . . . 0 0.474 . . 120.0 . . . 0.0005 0.0018 0.0024 0.0005 0.0018 0.0024 . 0.9459 0.765 0.946 c . . . . . 1.073e-03 . . . 0.0003 0.0010 0.0004 0 0 0.0017 0.0014 0.0005 0.0002 0.0010 0.0004 0 0.0003 0.0016 0.0014 0.0005 . . . . . . splicing splicing splicing . . 0.584 0.0008 . . . 0.48 0.47 182 ENSG00000186190 BPIFB3 BPIFB3 ENST00000375494:exon1:c.124+2T>C uc002wym.1:exon1:c.124+2T>C NM_182658:exon1:c.124+2T>C 0.006 0.110 . 118 0.00181606 64976 114 0.00190044 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . 0.437 . . . HET . rs55823624 . . . . . . . 0.0 0.0 0.0 0.0 0.0 X.83 5.35E-4 ENST00000375494 IV.69 IV.69 . . . 0.9999 0.858 . 0.001768 . 0.369 . . IV.69 0.0003 0.0012 0.0005 0 0 0.0002 0.0021 0.0011 0.0010 0.0006 0.0012 0.0012 0 0 0 0.0021 0 . . 0.004 . 1.974 1.974000 . . . . . 1.0E-255 1.000 0.715 . 0.574 0.990 . 0.520 . 0.759 1.974 0.991 0.0024 rs55823624 rs55823624 rs55823624 rs55823624 1 1538 10 1/0 0,247,255 +rs186635468 20 32376652 G A - ZNF341 15992 Zinc finger protein 341 NM_001282933.1 1 3579 2565 NP_001269862.1 Q9BYN7 substitution intron GRCh37 32376652 32376652 Chr20(GRCh37):g.32376652G>A 1853-17 1853-17 NM_001282933.1:c.1853-17G>A p.? p.? 13 12 -17 3' 88.3014 XII.07 0.968951 XII.78 88.3014 11.534 0.973179 12.0514 -0.0301173 rs186635468 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.002000 0.004300 0.003707 0.001010 0.003500 0.001688 0.000000 0.000327 0.005934 0.002994 0.004198 0.005934 1021 24 120 17 0 10 746 77 27 275418 23762 34282 10074 18806 30622 125718 25722 6432 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1013 24 120 17 0 10 738 77 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8555 4400 12955 45 6 51 0.00523256 0.00136178 0.00392127 0.00523256 0.00136178 0.00392127 60 transition G A G>A 0.000 -1.247 255 PASS 0.002 0.0023 0.01 . 0.0026 0.0008 0.0012 0.0043 . 0.002 . . ZNF341:uc002wzz.3:exon1:c.G117A:p.L39L . . . 0.3939394 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . 0.0014 0.0039 0.0052 0.0014 0.0039 0.0052 . -0.0101 . . . . . . . . 3.623e-03 . . . 0.0016 0.0040 0.0034 0 0.0032 0.0068 0.0069 0.0003 0.0016 0.0042 0.0031 0 0.0035 0.0067 0.0071 0.0003 . synonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . 0.0012 . . . 0.25 0.34 182 ENSG00000230753 ZNF341 ZNF341-AS1 . . . . . . 342 0.00526348 64976 336 0.00560131 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186635468 . . . . . . . . . . . . . . . . . . . . . . . 0.003921 . . . . . 0.0010 0.0037 0.0035 0.0017 0 0.0026 0.0059 0.0044 0.0003 0.0010 0.0040 0.0036 0 0 0.0054 0.0059 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs186635468 rs186635468 1 1538 10 1/0 0,255,255 +rs186635468 20 32376652 G A - ZNF341-AS1 50736 ZNF341 antisense RNA 1 NR_110623.1 -1 646 0 substitution intron GRCh37 32376652 32376652 Chr20(GRCh37):g.32376652G>A 242-1069 242-1069 NR_110623.1:n.242-1069C>T p.? p.? 4 3 -1069 3' 84.299 9.01946 0.796273 7.26857 84.299 9.01946 0.796273 7.26857 0 rs186635468 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.002000 0.004300 0.003707 0.001010 0.003500 0.001688 0.000000 0.000327 0.005934 0.002994 0.004198 0.005934 1021 24 120 17 0 10 746 77 27 275418 23762 34282 10074 18806 30622 125718 25722 6432 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1013 24 120 17 0 10 738 77 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8555 4400 12955 45 6 51 0.00523256 0.00136178 0.00392127 0.00523256 0.00136178 0.00392127 60 transition C T C>T 0.000 -1.247 255 PASS 0.002 0.0023 0.01 . 0.0026 0.0008 0.0012 0.0043 . 0.002 . . ZNF341:uc002wzz.3:exon1:c.G117A:p.L39L . . . 0.3939394 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . 0.0014 0.0039 0.0052 0.0014 0.0039 0.0052 . -0.0101 . . . . . . . . 3.623e-03 . . . 0.0016 0.0040 0.0034 0 0.0032 0.0068 0.0069 0.0003 0.0016 0.0042 0.0031 0 0.0035 0.0067 0.0071 0.0003 . synonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . 0.0012 . . . 0.25 0.34 182 ENSG00000230753 ZNF341 ZNF341-AS1 . . . . . . 342 0.00526348 64976 336 0.00560131 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186635468 . . . . . . . . . . . . . . . . . . . . . . . 0.003921 . . . . . 0.0010 0.0037 0.0035 0.0017 0 0.0026 0.0059 0.0044 0.0003 0.0010 0.0040 0.0036 0 0 0.0054 0.0059 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs186635468 rs186635468 1 1538 10 1/0 0,255,255 +. 20 33514715 T C - ACSS2 15814 Acyl-CoA synthetase short-chain family member 2 NM_001076552.2 1 3018 2145 NP_001070020.2 substitution missense exon GRCh37 33514715 33514715 Chr20(GRCh37):g.33514715T>C 1978 1978 NM_001076552.2:c.1978T>C p.Tyr660His p.Tyr660His 18 605832 36 3' 87.3226 5.44214 0.474052 4.70882 87.3226 5.44214 0.474052 4.97881 0 Cryptic Acceptor Strongly Activated 33514713 2.35103 0.023509 73.7567 3.28856 0.040714 73.7567 transition T C T>C 1.000 4.887 Y Tyr TAC 0.562 H His CAC 0.587 660 12 8 Zebrafish 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C15 57.46 72.81 Tolerated 0.1 III.41 bad 3.586E-3 0.1522 255 PASS . . . . . . . . . . . . . . . . 0.48447204 . . @ 78 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.597 . @ . . . . . 1 0.375 . . 161.0 . . . . . . . . . . -0.0105 0.189 -0.010 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.568 . . exonic exonic exonic . . 0.696 @ . . . . . . ENSG00000131069 ACSS2 ACSS2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . T 0.408 0.019 . . 37 . 0.414 . . 0.250 . . . 0.086 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.513 . . 0 0 0 0 0 0 . 0.144 . . 0.190 . . . . . . 1 0.165 . . . . . 0.718 . 0.638 . HET 0.23 . . . . . . . . . . . . . 15.0968 . . V.13 V.13 . 0.180000 . . . Name\x3dnsv912860 . . 0.700 . . V.13 . . . . . . . . . . . . . . . . . . . 0.609 . 2.146 2.146000 . . 0.180000 . . 1.0E-255 1.000 0.715 . 0.587 0.998 . 0.842 . 0.661 2.146 0.991 . . . . . 1 1538 10 1/0 0,237,254 +. 20 33514715 T C - GSS 4624 Glutathione synthetase NM_000178.3 -1 1919 1425 NP_000169.1 P48637 substitution downstream GRCh37 33514715 33514715 Chr20(GRCh37):g.33514715T>C *1916 *1916 NM_000178.3:c.*1916A>G p.? p.? 13 601002 2040 3' 83.4058 8.82172 0.993008 8.28265 83.4058 8.82172 0.993008 8.28265 0 transition A G A>G 1.000 4.887 255 PASS . . . . . . . . . . . . . . . . 0.48447204 . . @ 78 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.597 . @ . . . . . 1 0.375 . . 161.0 . . . . . . . . . . -0.0105 0.189 -0.010 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.568 . . exonic exonic exonic . . 0.696 @ . . . . . . ENSG00000131069 ACSS2 ACSS2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . T 0.408 0.019 . . 37 . 0.414 . . 0.250 . . . 0.086 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.513 . . 0 0 0 0 0 0 . 0.144 . . 0.190 . . . . . . 1 0.165 . . . . . 0.718 . 0.638 . HET 0.23 . . . . . . . . . . . . . 15.0968 . . V.13 V.13 . 0.180000 . . . Name\x3dnsv912860 . . 0.700 . . V.13 . . . . . . . . . . . . . . . . . . . 0.609 . 2.146 2.146000 . . 0.180000 . . 1.0E-255 1.000 0.715 . 0.587 0.998 . 0.842 . 0.661 2.146 0.991 . . . . . 1 1538 10 1/0 0,237,254 +rs13040287 20 33588702 G C - MYH7B 15906 Myosin, heavy chain 7B, cardiac muscle, beta NM_020884.4 1 6584 5952 NP_065935.3 substitution intron GRCh37 33588702 33588702 Chr20(GRCh37):g.33588702G>C 5430+6 5430+6 NM_020884.4:c.5430+6G>C p.? p.? 40 40 609928 6 5' 74.9492 4.1739 0.15877 8.89532 74.1894 4.71529 0.299282 8.25608 0.334859 Cryptic Donor Strongly Activated 33588696 4.1739 0.15877 74.9492 4.71529 0.299282 74.1894 rs13040287 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000045 0.000000 0.000045 4 0 0 0 0 0 3 1 0 243492 15266 33434 9610 17220 30384 110180 21988 5410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 85 Exomes transversion G C G>C 0.213 -0.037 213 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . I.26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.23 182 ENSG00000078814 MYH7B MYH7B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs13040287 . . . . . . . . . . . . . . . . . . . . 0.0001 0.056 . . . . . . . 0 1.643e-05 0 0 0 4.548e-05 2.723e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs13040287 rs13040287 rs13040287 rs13040287 1 1538 10 1/0 0,255,255 +rs13040287 20 33588702 G C - TRPC4AP 16181 Transient receptor potential cation channel, subfamily C, member 4 associated protein NM_015638.2 -1 3170 2394 NP_056453.1 Q8TEL6 substitution downstream GRCh37 33588702 33588702 Chr20(GRCh37):g.33588702G>C *2247 *2247 NM_015638.2:c.*2247C>G p.? p.? 19 608430 2385 3' 81.8762 8.72615 0.867811 8.64476 81.8762 8.72615 0.867811 8.64476 0 rs13040287 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000045 0.000000 0.000045 4 0 0 0 0 0 3 1 0 243492 15266 33434 9610 17220 30384 110180 21988 5410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 85 Exomes transversion C G C>G 0.213 -0.037 213 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . I.26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.23 182 ENSG00000078814 MYH7B MYH7B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs13040287 . . . . . . . . . . . . . . . . . . . . 0.0001 0.056 . . . . . . . 0 1.643e-05 0 0 0 4.548e-05 2.723e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs13040287 rs13040287 rs13040287 rs13040287 1 1538 10 1/0 0,255,255 +rs759302085 20 34146652 C T - ERGIC3 15927 ERGIC and golgi 3 NM_198398.1 1 1366 1167 NP_938408.1 substitution downstream GRCh37 34146652 34146652 Chr20(GRCh37):g.34146652C>T *1377 *1377 NM_198398.1:c.*1377C>T p.? p.? 14 616971 1457 3' 84.0123 8.11092 0.686084 5.01518 84.0123 8.11092 0.686084 5.01518 0 rs759302085 yes no Frequency 1 C 0.000000 0 0.000251 0.000067 0.000529 0.000240 0.000000 0.000000 0.000266 0.000227 0.001081 0.000529 41 1 13 2 0 0 18 2 5 163026 14890 24570 8338 11536 22548 67690 8830 4624 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 1 13 2 0 0 18 2 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 0.528 255 PASS . . . . . . . . . . . . FER1L4:uc002xcx.3:exon7:c.G971A:p.R324H . . . 0.46551725 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . 1.0989 . . . . . . . . 8.287e-05 . . . 0 0.0002 0 0 0 0.0006 0 0 0 9.181e-05 0 0 0 0.0004 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000088340 FER1L4 FER1L4 . . . . . . 7 0.000107732 64976 7 0.000116694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0.05 rs759302085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0005 0.0002 0 0.0002 0.0003 0.0014 0 0.0001 0.0002 0.0012 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +rs759302085 20 34146652 C T - FER1L4 15801 Fer-1-like 4 (C. elegans), pseudogene XR_248924.1 -1 6743 0 substitution exon GRCh37 34146652 34146652 Chr20(GRCh37):g.34146652C>T 6598 6598 XR_248924.1:n.6598G>A 45 171 3' 82.1479 8.61321 0.887266 X.75 82.1479 8.61321 0.887266 X.75 0 rs759302085 yes no Frequency 1 C 0.000000 0 0.000251 0.000067 0.000529 0.000240 0.000000 0.000000 0.000266 0.000227 0.001081 0.000529 41 1 13 2 0 0 18 2 5 163026 14890 24570 8338 11536 22548 67690 8830 4624 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 1 13 2 0 0 18 2 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.992 0.528 255 PASS . . . . . . . . . . . . FER1L4:uc002xcx.3:exon7:c.G971A:p.R324H . . . 0.46551725 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . 1.0989 . . . . . . . . 8.287e-05 . . . 0 0.0002 0 0 0 0.0006 0 0 0 9.181e-05 0 0 0 0.0004 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000088340 FER1L4 FER1L4 . . . . . . 7 0.000107732 64976 7 0.000116694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0.05 rs759302085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0005 0.0002 0 0.0002 0.0003 0.0014 0 0.0001 0.0002 0.0012 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 20 34809763 C T - EPB41L1 3378 Erythrocyte membrane protein band 4.1-like 1 NM_012156.2 1 6276 2646 NP_036288.2 Q9H4G0 substitution intron GRCh37 34809763 34809763 Chr20(GRCh37):g.34809763C>T 2440-23 2440-23 NM_012156.2:c.2440-23C>T p.? p.? 20 19 602879 -23 3' 84.9367 XII.32 0.956542 13.9435 84.9367 XII.32 0.956542 13.6243 0 34809766 -13.8503 transition C T C>T 0.055 0.125 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.5737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000088367 EPB41L1 EPB41L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs114092633 20 35128780 C T - DLGAP4 24476 Discs, large (Drosophila) homolog-associated protein 4 NM_014902.5 1 5069 2970 NP_055717.2 substitution missense exon GRCh37 35128780 35128780 Chr20(GRCh37):g.35128780C>T 2269 2269 NM_014902.5:c.2269C>T p.Arg757Cys p.Arg757Cys 10 616191 179 3' 75.0596 8.94922 0.332457 VIII.81 75.0596 8.94922 0.332457 VIII.81 0 Guanylate-kinase-associated protein rs114092633 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.002000 0.001400 0.000917 0.000333 0.000896 0.000000 0.000000 0.001174 0.001259 0.000392 0.001595 0.001259 249 8 30 0 0 35 156 10 10 271448 24000 33490 9614 18762 29822 123956 25534 6270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 249 8 30 0 0 35 156 10 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 61 transition C T C>T 1.000 2.627 R Arg CGC 0.190 C Cys TGC 0.552 757 12 8 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0.01 III.62 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0008 0.0014 . 0.002 0.001 . . . . . 0.35099337 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.528 . @ . . . . . 1 0.843 . . 151.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . -0.0431 0.146 -0.043 c . . . . . 8.998e-04 . . . 0.0003 0.0010 0.0021 0 0.0008 0.0010 0.0044 0.0011 0.0002 0.0009 0.0021 0 0.0006 0.0008 0.0030 0.0011 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.173 . . exonic exonic exonic . . 0.568 0.0008 . . . 0.71 0.23 182 ENSG00000080845 DLGAP4 DLGAP4 . . . 1.000 0.747 . 52 0.000800296 64976 48 0.000800187 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.179 0.007 . . 37 . 0.149 . . 0.040 . . . 0.163 0.508 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.412 . . 0 0 0 0 0 0 . 0.215 . . 0.214 . . . . . . 0 0.491 . . . . . 0.601 . 0.852 . HET 0 rs114092633 0.011 0.007 . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 13.3921 2.68E-4 . V.62 IV.62 . 0.050000 . . . Name\x3dnsv833967 0.000615 . 0.706 . . IV.62 0.0005 0.0009 0.0009 0 0 0.0004 0.0011 0.0019 0.0012 0.0001 0.0011 0.0012 0 0 0.0003 0.0021 0 . . 0.442 . 2.659 2.659000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.437 . 0.167 2.659 0.871 0.011 . . rs114092633 rs114092633 1 1538 10 1/0 0,232,255 +rs116880576 20 36678309 C T - RPRD1B 16209 Regulation of nuclear pre-mRNA domain containing 1B NM_021215.3 1 3872 981 NP_067038.1 Q9NQG5 substitution intron GRCh37 36678309 36678309 Chr20(GRCh37):g.36678309C>T 415+1426 415+1426 NM_021215.3:c.415+1426C>T p.? p.? 3 3 614694 1426 5' 72.1322 VI.95 0.907555 3.11065 72.1322 VI.95 0.907555 3.11065 0 Cryptic Acceptor Strongly Activated 36678329 3.364 0.002078 70.453 4.37729 0.003511 70.453 rs116880576 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.004000 0.001400 0.002034 0.000229 0.000000 0.023179 0.000000 0.000000 0.003398 0.000286 0.002037 0.023179 63 2 0 7 0 0 51 1 2 30970 8728 838 302 1618 0 15010 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 2 0 7 0 0 51 1 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.839 2.465 255 PASS . 0.0018 0.0028 . 0.004 . 0.0014 0.0014 . 0.004 0.002 . . . . . 0.45 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||RPRD1B|mRNA|CODING|NM_021215|) . . . . . . . 0.8594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.43 0.16 182 ENSG00000101413 RPRD1B RPRD1B . . . . . . 146 0.00224698 64976 139 0.00231721 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116880576 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . III.84 . . . . . . . . . 0.0002 0.0020 0 0.0232 0 0.0003 0.0034 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs116880576 rs116880576 1 1538 10 1/0 0,255,255 +rs2232597 20 36989391 G A - LBP 6517 Lipopolysaccharide binding protein NM_004139.4 1 1894 1446 NP_004130.2 P18428 substitution missense exon GRCh37 36989391 36989391 Chr20(GRCh37):g.36989391G>A 622 622 NM_004139.4:c.622G>A p.Asp208Asn p.Asp208Asn 6 151990 -31 5' 84.5905 9.78584 0.903754 3.27769 84.5905 9.78584 0.903754 2.75682 0 Lipid-binding serum glycoprotein, N-terminal rs2232597 yes no Frequency/1000G 2 G 0.000000 0 0.005591 0.000000 0.018400 0.000000 0.008000 0.002900 0.007061 0.000750 0.004884 0.003743 0.000106 0.027817 0.005525 0.004381 0.009598 0.027817 1957 18 168 38 2 856 700 113 62 277152 24016 34398 10152 18866 30772 126696 25792 6460 0.000209 0.000000 0.000058 0.000000 0.000000 0.001625 0.000016 0.000000 0.000619 29 0 1 0 0 25 1 0 2 1899 18 166 38 2 806 698 113 58 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8545 4401 12946 55 5 60 0.00639535 0.00113482 0.00461326 0.00639535 0.00113482 0.00461326 172 transition G A G>A 0.008 -0.198 D Asp GAT 0.461 N Asn AAT 0.464 208 12 9 C. elegans 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 101.46 0.00 Tolerated 0.13 II.97 255 PASS . 0.0027 0.0028 . 0.01 . 0.0056 0.0029 . 0.008 0.018 ENSG00000129988:ENST00000217407:exon6:c.G622A:p.D208N LBP:uc002xic.2:exon6:c.G622A:p.D208N LBP:NM_004139:exon6:c.G622A:p.D208N . . 0.4651163 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.100 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D208N|LBP|mRNA|CODING|NM_004139|NM_004139.ex.6) 0.0011 0.0046 0.0064 0.0011 0.0046 0.0064 . -1.3347 -1.392 -1.335 c . . . . . 7.687e-03 . . . 0.0008 0.0092 0.0067 0 0.0045 0.0064 0.0098 0.0275 0.0008 0.0081 0.0069 0.0001 0.0039 0.0053 0.0144 0.0274 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.046 . . exonic exonic exonic . . 0.077 0.0056 . . . 0.17 0.16 182 ENSG00000129988 LBP LBP . . . 0.043 0.146 . 254 0.00390914 64976 226 0.00376755 59986 Likely_benign . 0 . 0.188 . . . . . . . . . 37 . 0.036 . . 0.385 . . . 0.681 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.102 . . 0.133 . . . . . . 0 0.231 . . . . . 0.144 . 0.106 . HET 0.25 rs2232597 0.033 0.022 . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 5.1759 0.001605 . V.28 -1.68 . 0.400000 P18428 . . . 0.004613 . 0.083 . . . 0.0007 0.0075 0.0050 0.0038 0.0001 0.0042 0.0055 0.0099 0.0278 0.0009 0.0039 0.0012 0.0033 0 0.0054 0.0055 0.0081 . . 0.283 . -0.093 -0.093000 . . 0.400000 . . 1.0E-255 0.001 0.137 . 0.169 0.502 . 0.075 . 0.009 -0.093 -0.600 0.033 rs2232597 rs2232597 rs2232597 rs2232597 1 1538 10 1/0 0,255,255 +rs753053346 20 37356812 A G - SLC32A1 11018 Solute carrier family 32 (GABA vesicular transporter), member 1 NM_080552.2 1 2574 1578 NP_542119.1 Q9H598 substitution missense exon GRCh37 37356812 37356812 Chr20(GRCh37):g.37356812A>G 1108 1108 NM_080552.2:c.1108A>G p.Ile370Val p.Ile370Val 2 616440 718 3' 82.8182 10.1718 0.956348 7.87235 82.8182 10.1718 0.956348 7.87235 0 Amino acid transporter, transmembrane rs753053346 yes no Frequency 1 A 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000045 0.000000 0.000000 0.000045 5 0 0 0 0 0 5 0 0 246178 15298 33580 9848 17248 30782 111652 22286 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transition A G A>G 1.000 3.918 I Ile ATC 0.481 V Val GTC 0.240 370 14 14 Baker's yeast 3 3 4 0 0 5.II 5.IX 111 84 29 C25 0.00 28.68 Deleterious 0 3.II bad 4.644E-3 0.0001946 255 PASS . . . . . . . . . . . ENSG00000101438:ENST00000217420:exon2:c.A1108G:p.I370V SLC32A1:uc002xjc.3:exon2:c.A1108G:p.I370V SLC32A1:NM_080552:exon2:c.A1108G:p.I370V . . 0.47685185 . . @ 103 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.447 . @ . . . . . 1 0.575 . . 216.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I370V|SLC32A1|mRNA|CODING|NM_080552|NM_080552.ex.2) . . . . . . . 0.3300 0.384 0.330 c . . . . . 2.368e-05 . . . . . . . . . . . 0 2.825e-05 0 0 0 5.521e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.032 . . exonic exonic exonic . . 0.544 @ . . . . . . ENSG00000101438 SLC32A1 SLC32A1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.441 0.021 . . 37 . 0.056 . . 0.573 . . . 0.154 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.178 . . 0 0 0 0 0 0 . 0.456 . . 0.512 . . . . . . 0 0.195 . . . . . 0.526 . 0.507 . HET 0.05 rs753053346 . . . . . . . . . . . . 12.0558 . ENST00000217420 IV.51 IV.51 . 0.310000 Q9H598 . . Name\x3ddgv4568n71 . . 0.731 . . IV.51 0 2.031e-05 0 0 0 0 4.478e-05 0 0 . . . . . . . . . . 0.477 . 1.816 1.816000 . . 0.310000 . . 1.0E-255 1.000 0.715 . 0.529 1.000 . 0.945 . 0.960 1.816 1.062 . . . . . 1 1538 10 1/0 0,226,249 +rs61757594 20 37639022 A G - DHX35 15861 DEAH (Asp-Glu-Ala-His) box polypeptide 35 NM_021931.3 1 3322 2112 NP_068750.2 Q9H5Z1 substitution missense exon GRCh37 37639022 37639022 Chr20(GRCh37):g.37639022A>G 1322 1322 NM_021931.3:c.1322A>G p.Asn441Ser p.Asn441Ser 13 -26 5' 86.9577 XI.51 0.996671 9.41448 86.9577 XI.51 0.996671 9.33495 0 rs61757594 yes no Frequency/1000G 2 A 0.000000 0 0.005192 0.017400 0.000000 0.001000 0.000000 0.002900 0.001942 0.020233 0.000698 0.000000 0.000106 0.000357 0.000095 0.000000 0.000465 0.020233 538 486 24 0 2 11 12 0 3 276976 24020 34406 10144 18866 30780 126510 25794 6456 0.000043 0.000500 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 6 6 0 0 0 0 0 0 0 526 474 24 0 2 11 12 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4329 12928 1 77 78 0.000116279 0.0174762 0.00599723 0.000116279 0.0174762 0.00599723 142 transition A G A>G 0.992 3.353 N Asn AAT 0.464 S Ser AGT 0.149 441 11 10 Frog 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 46.24 0.00 Tolerated 0.12 IV.32 good 6.633E-2 0.002117 255 PASS 0.02 0.01 0.01 0.0017 . 0.017 0.0052 0.0029 0.001 . . . . . . . 0.41509435 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.448 . @ . . . . . 1 0.768 . . 53.0 . . . 0.018 0.006 0.0001 0.018 0.006 0.0001 . 0.0706 0.145 0.071 c . . . . . 1.965e-03 . . . 0.0206 0.0026 0.0010 0.0002 0 9.498e-05 0.0014 0.0004 0.0203 0.0020 0.0010 0.0003 0 9.206e-05 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.486 0.0052 . . . 0.6 0.44 182 ENSG00000101452 DHX35 DHX35 . . . 1.000 0.747 . 32 0.00049249 64976 6 0.000100023 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.036 . . 0.026 . . . 0.547 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.812 . . 0 0 0 0 0 0 . 0.212 . . 0.315 . . . . . . 0 0.546 . . . . . 0.500 . 0.047 . HET 0.03 rs61757594 0.011 0.007 . . . . . 0.005036630036630037 0.016260162601626018 0.0055248618784530384 0.0017482517482517483 0.0 XI.13 0.016319 . V.32 4.II . 0.010000 . . . Name\x3dnsv833973 0.005997 . 0.881 . . 4.II 0.0218 0.0016 0.0007 0 0.0001 0 0.0001 0.0005 0.0004 0.0175 0.0050 0.0024 0 0 0 0 0 . . 0.730 . 0.921 0.921000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.490 0.992 . 0.793 . 0.916 0.921 0.075 0.02 rs61757594 rs61757594 rs61757594 rs61757594 1 1538 10 1/0 0,255,255 +rs117778469 20 42162610 C T - L3MBTL1 15905 L(3)mbt-like 1 (Drosophila) NM_032107.4 1 3366 2523 NP_115479.4 substitution intron GRCh37 42162610 42162610 Chr20(GRCh37):g.42162610C>T 1448-38 1448-38 NM_032107.4:c.1448-38C>T p.? p.? 14 13 608802 -38 3' 84.7638 8.11206 0.947367 9.72448 84.7638 8.11206 0.947367 9.59592 0 rs117778469 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.001000 0.000000 0.007000 0.007200 0.007294 0.001468 0.001399 0.003697 0.000000 0.000816 0.011516 0.014685 0.006562 0.014685 2003 35 48 37 0 25 1438 378 42 274624 23844 34300 10008 18832 30630 124870 25740 6400 0.000073 0.000000 0.000000 0.000000 0.000000 0.000000 0.000144 0.000000 0.000312 10 0 0 0 0 0 9 0 1 1983 35 48 37 0 25 1420 378 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8517 4392 12909 83 14 97 0.00965116 0.00317749 0.0074581 0.00965116 0.00317749 0.0074581 75 transition C T C>T 0.000 0.932 255 PASS . 0.0041 0.01 . 0.01 . 0.0026 0.0072 . 0.007 0.001 . . . . . 0.5833333 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . 0.0032 0.0075 0.0097 0.0032 0.0075 0.0097 . 0.1748 . . . . . . . . 7.743e-03 . . . 0.0014 0.0047 0.0023 0 0.0113 0.0077 0.0028 0.0009 0.0016 0.0079 0.0023 0 0.0126 0.0128 0.0072 0.0009 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.53 0.22 182 ENSG00000185513 L3MBTL1 L3MBTL1 . . . . . . 564 0.00868013 64976 552 0.00920215 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117778469 . . . . . . . . . . . . . . . . . . . . . . . 0.007458 . . . . II.17 0.0013 0.0072 0.0014 0.0038 0 0.0147 0.0116 0.0063 0.0008 0.0018 0.0077 0.0012 0 0 0.0146 0.0108 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117778469 rs117778469 1 1538 10 1/0 0,255,255 +rs149186573 20 42338595 C T - MYBL2 7548 V-myb avian myeloblastosis viral oncogene homolog-like 2 NM_002466.3 1 2777 2103 NP_002457.1 P10244 substitution intron GRCh37 42338595 42338595 Chr20(GRCh37):g.42338595C>T 1506-8 1506-8 NM_002466.3:c.1506-8C>T p.? p.? 10 9 601415 -8 3' 79.2232 9.51309 0.535401 6.20651 81.033 9.34119 0.530549 6.52245 -0.00142929 rs149186573 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001610 0.000753 0.000189 0.001405 0.000000 0.000104 0.002580 0.002451 0.001301 0.002580 434 18 6 14 0 3 322 63 8 269584 23890 31824 9962 18414 28828 124810 25708 6148 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 430 18 6 14 0 3 318 63 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4405 12986 19 1 20 0.0022093 0.000226963 0.00153775 0.0022093 0.000226963 0.00153775 186 transition C T C>T 0.157 1.577 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.5 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . 0.0002 0.0015 0.0022 0.0002 0.0015 0.0022 . I.08 . . . . . . . . 1.515e-03 . . . 0.0005 0.0012 0.0003 0 0.0005 0.0022 0 0.0001 0.0003 0.0014 0.0003 0 0.0018 0.0024 0 0.0001 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.63 0.45 182 ENSG00000101057 MYBL2 MYBL2 . . . . . . 143 0.00220081 64976 140 0.00233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149186573 . . . . . . . . . . . . . . . . . . . . 0.0009 0.086 . 0.001538 . . . . III.28 0.0007 0.0016 0.0002 0.0013 0 0.0025 0.0026 0.0014 0.0001 0.0008 0.0016 0.0012 0.0033 0 0.0023 0.0021 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs149186573 rs149186573 1 1538 10 1/0 0,255,255 +rs35397089 20 42972130 C T - R3HDML 16249 R3H domain containing-like NM_178491.3 1 762 762 NP_848586.1 Q9H3Y0 substitution missense exon GRCh37 42972130 42972130 Chr20(GRCh37):g.42972130C>T 494 494 NM_178491.3:c.494C>T p.Thr165Ile p.Thr165Ile 3 -20 5' 71.0434 7.04051 0.933322 4.28919 71.0434 7.04051 0.933322 4.53393 0 CAP domain Allergen V5/Tpx-1-related rs35397089 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001660 0.000502 0.000394 0.000200 0.000000 0.000792 0.002888 0.001205 0.001423 0.002888 453 12 13 2 0 24 362 31 9 272938 23894 32966 9986 18380 30316 125352 25720 6324 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 453 12 13 2 0 24 362 31 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4403 12980 23 3 26 0.00267442 0.00068089 0.00199908 0.00267442 0.00068089 0.00199908 69 COSM5000029 Pancreas 0.000569 1758 transition C T C>T 0.921 1.739 T Thr ACC 0.361 I Ile ATC 0.481 165 12 3 Northern white-cheeked gibbon -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 220.64 IV.86 Tolerated 0.36 II.98 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . ENSG00000101074:ENST00000217043:exon3:c.C494T:p.T165I R3HDML:uc002xls.2:exon3:c.C494T:p.T165I R3HDML:NM_178491:exon3:c.C494T:p.T165I . . 0.44827586 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.192 . @ . . . . . 1 0.172 . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T165I|R3HDML|mRNA|CODING|NM_178491|NM_178491.ex.3) 0.0007 0.002 0.0027 0.0007 0.002 0.0027 . -0.8128 -0.727 -0.813 c . . . . . 1.792e-03 . . . 0.0005 0.0013 0.0002 0 0.0011 0.0022 0.0028 0.0007 0.0006 0.0017 8.925e-05 0 0.0012 0.0029 0.0029 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.083 . . exonic exonic exonic . . 0.317 0.0004 . . . 0.24 0.35 182 ENSG00000101074 R3HDML R3HDML . . . 0.008 0.116 . 111 0.00170832 64976 109 0.00181709 59986 Uncertain_significance . 0 . 0.363 . . . . T 0.124 0.005 . . 37 . 0.066 . . 0.257 . . . 0.152 0.266 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.112 . . 0.166 . . . . . . 0 0.390 . . . . . 0.377 . 0.207 . HET 0.05 rs35397089 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IX.63 2.68E-4 ENST00000217043 5.IX II.79 . 0.080000 Q9H3Y0 . . . 0.001999 . 0.098 . . II.79 0.0005 0.0017 0.0004 0.0002 0 0.0013 0.0029 0.0013 0.0008 0.0005 0.0017 0 0 0 0.0003 0.0031 0.0020 . . 0.185 . 0.343 0.343000 . . 0.080000 . . 1.0E-255 0.300 0.251 . 0.100 0.806 . 0.533 . 0.032 0.343 0.021 0.0027 rs35397089 rs35397089 rs35397089 rs35397089 1 1538 10 1/0 0,255,255 +rs776855379 20 43385007 G A - RIMS4 16183 Regulating synaptic membrane exocytosis 4 NM_182970.2 -1 5136 810 NP_892015.1 Q9H426 substitution intron GRCh37 43385007 43385007 Chr20(GRCh37):g.43385007G>A 592-14 592-14 NM_182970.2:c.592-14C>T p.? p.? 6 5 611601 -14 3' 86.8881 13.0535 0.981234 17.4461 89.6566 XII.16 0.984337 17.354 0.00243203 rs776855379 yes no Frequency 1 G 0.000000 0 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000042 0.000000 0.000000 0.000042 5 0 0 0 0 0 5 0 0 266810 23202 33956 9916 18502 30028 120388 24544 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.732 0.448 255 PASS . . . . . . . . . . . . . . . . 0.5316456 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . I.82 . . . . . . . . 2.369e-05 . . . 0 4.093e-05 0 0 0 8.718e-05 0 0 0 3.537e-05 0 0 0 6.807e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000101098 RIMS4 RIMS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs776855379 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv458985 . . . . . II.47 0 1.696e-05 0 0 0 0 3.795e-05 0 0 0 3.232e-05 0 0 0 0 6.676e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 20 43534760 T G - YWHAB 12849 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta NM_003404.4 1 3221 741 NP_003395.1 P31946 substitution intron GRCh37 43534760 43534760 Chr20(GRCh37):g.43534760T>G 684+23 684+23 NM_003404.4:c.684+23T>G p.? p.? 6 6 601289 23 5' 78.1641 8.59132 0.951225 4.97225 78.1641 8.59132 0.951225 4.67588 0 transversion T G T>G 0.008 0.448 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . 0.1687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000166913 YWHAB YWHAB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv518547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 20 43534761 T G - YWHAB 12849 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta NM_003404.4 1 3221 741 NP_003395.1 P31946 substitution intron GRCh37 43534761 43534761 Chr20(GRCh37):g.43534761T>G 684+24 684+24 NM_003404.4:c.684+24T>G p.? p.? 6 6 601289 24 5' 78.1641 8.59132 0.951225 4.97225 78.1641 8.59132 0.951225 5.17878 0 transversion T G T>G 0.008 2.950 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.2860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000166913 YWHAB YWHAB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv518547 . . . . . III.98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs749997411 20 44419478 C T - DNTTIP1 16160 Deoxynucleotidyltransferase, terminal, interacting protein 1 NM_052951.2 1 1290 990 NP_443183.1 Q9H147 substitution upstream GRCh37 44419478 44419478 Chr20(GRCh37):g.44419478C>T -1166 -1166 NM_052951.2:c.-1166C>T p.? p.? 1 611388 -1271 5' 81.398 9.19553 0.985965 XII.95 81.398 9.19553 0.985965 XII.95 0 Cryptic Acceptor Weakly Activated 44419485 7.95998 0.16381 79.0053 8.479 0.227427 80.5159 rs749997411 yes no Frequency 1 C 0.000000 0 0.000549 0.000458 0.001193 0.000000 0.000000 0.000000 0.000733 0.000000 0.001022 0.001193 17 4 1 0 0 0 11 0 1 30972 8734 838 302 1622 0 15004 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 4 1 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.059 0.932 255 PASS . . . . . . . . . . . . . . . . 0.45945945 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000124116 WFDC3 WFDC3 . . . . . . 46 0.000707954 64976 46 0.000766846 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749997411 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833990 . . . . . 2.IV . . . . . . . . . 0.0005 0.0005 0.0012 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749997411 20 44419478 C T - WFDC3 15957 WAP four-disulfide core domain 3 NM_080614.1 -1 1000 696 NP_542181.1 Q8IUB2 substitution intron GRCh37 44419478 44419478 Chr20(GRCh37):g.44419478C>T -864 -864 NM_080614.1:c.-7-857G>A p.? p.? 2 1 -857 3' 72.7762 5.19554 0.235607 I.12 72.7762 5.19554 0.235607 I.12 0 Cryptic Donor Strongly Activated 44419477 0.050937 71.7067 2.98747 0.344212 80.6674 rs749997411 yes no Frequency 1 C 0.000000 0 0.000549 0.000458 0.001193 0.000000 0.000000 0.000000 0.000733 0.000000 0.001022 0.001193 17 4 1 0 0 0 11 0 1 30972 8734 838 302 1622 0 15004 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 4 1 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.059 0.932 255 PASS . . . . . . . . . . . . . . . . 0.45945945 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000124116 WFDC3 WFDC3 . . . . . . 46 0.000707954 64976 46 0.000766846 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749997411 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833990 . . . . . 2.IV . . . . . . . . . 0.0005 0.0005 0.0012 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs41427445 20 44637678 A G - MMP9 7176 Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) NM_004994.2 1 2336 2124 NP_004985.2 P14780 substitution missense exon GRCh37 44637678 44637678 Chr20(GRCh37):g.44637678A>G 113 113 NM_004994.2:c.113A>G p.Asn38Ser p.Asn38Ser 1 120361 -26 5' 76.7238 6.31827 0.215431 4.04899 76.7238 6.31827 0.215431 3.96945 0 rs41427445 yes no Frequency/1000G 2 A 0.000000 0 0.007987 0.007600 0.006100 0.004000 0.014900 0.007200 0.009168 0.009915 0.005994 0.046730 0.001169 0.004137 0.010389 0.002848 0.012876 0.046730 2533 237 206 473 22 127 1312 73 83 276282 23902 34366 10122 18826 30700 126292 25628 6446 0.000159 0.000084 0.000058 0.002964 0.000000 0.000000 0.000063 0.000000 0.000310 22 1 1 15 0 0 4 0 1 2489 235 204 443 22 127 1304 73 81 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8497 4364 12861 103 42 145 0.0119767 0.00953246 0.0111487 0.0119767 0.00953246 0.0111487 43 transition A G A>G 0.000 -0.117 N Asn AAT 0.464 S Ser AGT 0.149 38 11 6 Dog 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 220.50 0.00 Tolerated 1 II.89 good 9.652E-1 0.003873 255 PASS 0.002 0.01 0.01 . 0.01 0.0076 0.008 0.0072 0.004 0.015 0.0061 ENSG00000100985:ENST00000372330:exon1:c.A113G:p.N38S MMP9:uc002xqz.3:exon1:c.A113G:p.N38S MMP9:NM_004994:exon1:c.A113G:p.N38S . . 0.44285715 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.031 . @ . . . . . 1 0.087 . . 140.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N38S|MMP9|mRNA|CODING|NM_004994|NM_004994.ex.1) 0.0095 0.011 0.012 0.0095 0.011 0.012 . -1.1779 -1.227 -1.178 c . . . . . 8.848e-03 . . . 0.0095 0.0098 0.0045 0.0024 0.0011 0.0152 0.0103 0.0039 0.0096 0.0088 0.0045 0.0015 0.0026 0.0127 0.0079 0.0040 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.050 0.0080 . . . 0.23 0.33 182 ENSG00000100985 MMP9 MMP9 . . . 1.000 0.489 . 794 0.0122199 64976 756 0.0126029 59986 Benign . 0 . 0.205 . . . . . . . . . 37 . 0.145 . . 0.378 . . . 0.694 0.090 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.227 . . 0 0 0 0 1 0 . 0.147 . . 0.181 . . . . . . 0 0.060 . . . . . 0.231 . 0.029 . HET 0.7 rs41427445 0.011 0.007 . . . . . 0.00641025641025641 0.0020325203252032522 0.011049723756906077 0.0 0.011873350923482849 VI.19 0.008828 ENST00000372330 IV.28 -3.1 . 1.000000 P14780 . . Name\x3dnsv833991 0.011149 . 0.170 . . . 0.0093 0.0092 0.0060 0.0469 0.0013 0.0029 0.0105 0.0134 0.0041 0.0109 0.0089 0.0072 0.0397 0 0.0026 0.0095 0.0102 . . 0.351 . -0.320 -0.320000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.574 0.938 . 0.128 . 0.960 -0.320 0.020 0.012 rs41427445 rs41427445 rs41427445 rs41427445 1 1538 10 1/0 0,240,255 +rs6011986 20 45192254 G A - SLC13A3 14430 Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 NM_022829.5 -1 4048 1809 NP_073740.2 Q8WWT9 substitution intron GRCh37 45192254 45192254 Chr20(GRCh37):g.45192254G>A 1495-64 1495-64 NM_022829.5:c.1495-64C>T p.? p.? 12 11 606411 -64 3' 89.8513 7.46992 0.88492 9.15263 89.8513 7.46992 0.88492 9.23021 0 rs6011986 yes no Frequency/1000G 2 A 0.000000 0 0.504393 0.509100 0.502000 0.539700 0.454300 0.520200 0.008299 0.016726 0.005900 0.003623 0.001299 0.000000 0.005886 0.000000 0.008969 0.016726 241 141 4 1 2 0 85 0 8 29040 8430 678 276 1540 0 14440 2784 892 0.058091 0.000000 0.250000 0.000000 0.000000 0.000000 0.129412 0.000000 0.250000 14 0 1 0 0 0 11 0 2 316 315 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.000 -1.247 255 PASS . . . . . 0.51 0.5 0.52 0.54 0.45 0.5 . . . . . 0.5217391 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.6405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.4956 . . . 0.34 0.39 182 ENSG00000158296 SLC13A3 SLC13A3 . uc002xse.2:c.-97C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6011986 0.120 0.109 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833994 . . . . . . . . . . . . . . . 0.0167 0.0083 0.0059 0.0036 0.0013 0 0.0059 0.0090 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 . . rs6011986 rs6011986 1 1538 10 1/0 0,255,255 +rs199786272 20 47247256 G A - PREX1 32594 Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 NM_020820.3 -1 6633 4980 NP_065871.2 Q8TCU6 substitution intron GRCh37 47247256 47247256 Chr20(GRCh37):g.47247256G>A 4593+10 4593+10 NM_020820.3:c.4593+10C>T p.? p.? 36 36 606905 10 5' 89.8263 9.80181 0.998682 XI.32 89.8263 9.80181 0.998682 XI.52 0 rs199786272 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000401 0.003206 0.000291 0.000000 0.000000 0.000032 0.000174 0.000000 0.000155 0.003206 111 77 10 0 0 1 22 0 1 276686 24020 34410 10146 18864 30772 126438 25570 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 77 10 0 0 1 22 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4396 12995 1 10 11 0.000116279 0.00226963 0.000845763 0.000116279 0.00226963 0.000845763 88 transition C T C>T 0.000 0.286 255 PASS 0.002 0.0005 . . . 0.003 0.0008 . . . . . . . . . 0.43243244 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||PREX1|mRNA|CODING|NM_020820|) 0.0023 0.0008 0.0001 0.0023 0.0008 0.0001 . 0.4224 . . . . . . . . 3.236e-04 . . . 0.0024 0.0004 0.0002 0 0 0.0002 0 6.125e-05 0.0023 0.0003 0.0002 0 0 0.0001 0 6.161e-05 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.18 0.27 182 ENSG00000124126 PREX1 PREX1 . . . . . . 7 0.000107732 64976 3 5.00117e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199786272 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833998 0.000846 . . . . . 0.0030 0.0003 0.0003 0 0 0 0.0002 0.0002 3.25e-05 0.0036 0.0011 0.0012 0 0 0 6.674e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs199786272 rs199786272 1 1538 10 1/0 0,255,255 +. 20 47351333 C T - PREX1 32594 Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 NM_020820.3 -1 6633 4980 NP_065871.2 Q8TCU6 substitution intron GRCh37 47351333 47351333 Chr20(GRCh37):g.47351333C>T 415-146 415-146 NM_020820.3:c.415-146G>A p.? p.? 4 3 606905 -146 3' 90.1454 10.1718 0.750786 11.1237 90.1454 10.1718 0.750786 11.1237 0 rs946814115 yes no Frequency 1 C 0.000000 0 0.000291 0.000574 0.000000 0.000000 0.000000 0.000000 0.000267 0.000000 0.000000 0.000574 9 5 0 0 0 0 4 0 0 30912 8716 838 302 1616 0 14968 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 5 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 -2.135 255 PASS . . . . . . . . . . . . . . . . 0.5277778 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||PREX1|mRNA|CODING|NM_020820|) . . . . . . . -0.3338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000124126 PREX1 PREX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0003 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs377030406 20 47990546 C T - KCNB1 6231 Potassium voltage-gated channel subfamily B member 1 NM_004975.3 -1 11847 2577 NP_004966.1 Q14721 substitution synonymous exon GRCh37 47990546 47990546 Chr20(GRCh37):g.47990546C>T 1551 1551 NM_004975.3:c.1551G>A p.Ser517= p.Ser517Ser 2 600397 984 3' 87.6921 12.1719 0.989773 16.0037 87.6921 12.1719 0.989773 16.0037 0 Potassium channel, voltage dependent, Kv2 Potassium channel, voltage dependent, Kv2.1 rs377030406 yes no Frequency 1 C 0.000000 0 0.000090 0.000000 0.000000 0.000000 0.000000 0.000032 0.000182 0.000000 0.000155 0.000182 25 0 0 0 0 1 23 0 1 277102 24024 34418 10150 18870 30772 126612 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 0 0 0 1 23 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 263 COSM4694186 Large intestine 0.000896 2231 transition G A G>A 0.409 -0.924 S Ser TCG 0.056 S Ser TCA 0.148 517 255 PASS . . . . . . . . . . . ENSG00000158445:ENST00000371741:exon2:c.G1551A:p.S517S . KCNB1:NM_004975:exon2:c.G1551A:p.S517S . . 0.5 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S517|KCNB1|mRNA|CODING|NM_004975|NM_004975.ex.2) . 0.0001 0.0001 . 0.0001 0.0001 . 0.1181 . . . . . . . . 7.892e-05 . . . 0 8.816e-05 0 0 0 0.0002 0 6.06e-05 0 6.591e-05 0 0 0 0.0001 0 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.31 182 ENSG00000158445 KCNB1 KCNB1 . . . . . . 5 7.69515e-05 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377030406 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 9.344e-05 0 0 0 0 0.0002 0.0002 3.25e-05 0 6.463e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs377030406 rs377030406 1 1538 10 1/0 0,253,255 +rs753171398 20 48807715 C G - CEBPB 1834 CCAAT/enhancer binding protein (C/EBP), beta NM_005194.3 1 2108 1038 NP_005185.2 P17676 substitution missense exon GRCh37 48807715 48807715 Chr20(GRCh37):g.48807715C>G 145 145 NM_005194.3:c.145C>G p.Pro49Ala p.Pro49Ala 1 189965 CCAAT/enhancer-binding rs753171398 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000059 1 0 0 0 0 1 0 0 0 80852 1290 14096 6634 2858 16872 29984 6954 2164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transversion C G C>G 1.000 2.223 P Pro CCC 0.328 A Ala GCC 0.403 49 12 2 Chimp -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 353.86 0.00 Tolerated 0.67 3.V 245 PASS . . . . . . . . . . . ENSG00000172216:ENST00000303004:exon1:c.C145G:p.P49A CEBPB:uc002xvi.2:exon1:c.C145G:p.P49A . . . 0.29545453 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.188 . @ . . . . . 1 0.184 . . 44.0 . . . . . . . . . . -0.3427 -0.260 -0.343 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.273 . . exonic exonic exonic . . 0.317 @ . . . . . . ENSG00000172216 CEBPB CEBPB . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.082 . . . . D 0.567 0.036 . . 37 . 0.189 . . 0.246 . . . 0.112 0.244 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.253 . . 0 0 0 0 0 0 . 0.323 . . 0.331 . . . . . . 1 0.010 . . . . . 0.159 . 0.276 . HET 0.89 . . . . . . . . . . . . . V.21 . ENST00000303004 2.VIII 2.VIII . 0.600000 P17676 . . . . . 0.294 . . 2.VIII 0 1.237e-05 0 0 0 0 0 0 5.927e-05 . . . . . . . . . . 0.040 . 1.419 1.419000 . . 0.600000 . . 1.0E-245 0.988 0.363 . 0.750 0.994 . 0.269 . 0.290 1.419 0.330 . . . . . 1 1538 10 1/0 0,255,255 +rs753171398 20 48807715 C G - CEBPB-AS1 51226 CEBPB antisense RNA 1 NR_125739.1 -1 2973 0 substitution intron GRCh37 48807715 48807715 Chr20(GRCh37):g.48807715C>G 561+90 561+90 NR_125739.1:n.561+90G>C p.? p.? 2 2 90 5' 84.1959 X.66 0.995067 XI.52 84.1959 X.66 0.995067 XI.52 0 rs753171398 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000059 1 0 0 0 0 1 0 0 0 80852 1290 14096 6634 2858 16872 29984 6954 2164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transversion G C G>C 1.000 2.223 245 PASS . . . . . . . . . . . ENSG00000172216:ENST00000303004:exon1:c.C145G:p.P49A CEBPB:uc002xvi.2:exon1:c.C145G:p.P49A . . . 0.29545453 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.188 . @ . . . . . 1 0.184 . . 44.0 . . . . . . . . . . -0.3427 -0.260 -0.343 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.273 . . exonic exonic exonic . . 0.317 @ . . . . . . ENSG00000172216 CEBPB CEBPB . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.082 . . . . D 0.567 0.036 . . 37 . 0.189 . . 0.246 . . . 0.112 0.244 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.253 . . 0 0 0 0 0 0 . 0.323 . . 0.331 . . . . . . 1 0.010 . . . . . 0.159 . 0.276 . HET 0.89 . . . . . . . . . . . . . V.21 . ENST00000303004 2.VIII 2.VIII . 0.600000 P17676 . . . . . 0.294 . . 2.VIII 0 1.237e-05 0 0 0 0 0 0 5.927e-05 . . . . . . . . . . 0.040 . 1.419 1.419000 . . 0.600000 . . 1.0E-245 0.988 0.363 . 0.750 0.994 . 0.269 . 0.290 1.419 0.330 . . . . . 1 1538 10 1/0 0,255,255 +. 20 49508687 C CTGGAATCCTTCT - ADNP 15766 Activity dependent neuroprotector homeobox NM_001282531.2 -1 6448 3309 NP_001269460.1 Q9H2P0 duplication in-frame exon GRCh37 49508687 49508688 Chr20(GRCh37):g.49508688_49508699dup 2552 2563 NM_001282531.2:c.2552_2563dup p.Ser854_Arg855insLysLysAspSer p.Ser854_Arg855insLysLysAspSer 6 611386 2362 3' 84.8366 9.59044 0.912993 V.57 84.8366 9.59044 0.912993 V.57 0 AGAAGGATTCCA 255 Pass . . . . . . . . . . . . . . . . 0.25 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 92 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000101126 ADNP ADNP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,60 +. 20 55099974 A C - FAM209A 16100 Family with sequence similarity 209, member A NM_001012971.3 1 678 516 NP_001012989.2 Q5JX71 substitution missense exon GRCh37 55099974 55099974 Chr20(GRCh37):g.55099974A>C 110 110 NM_001012971.3:c.110A>C p.Gln37Pro p.Gln37Pro 1 -140 5' 94.6745 X.23 0.998703 4.60876 94.6745 X.23 0.998703 4.60876 0 transversion A C A>C 0.890 1.820 Q Gln CAA 0.256 P Pro CCA 0.274 37 12 5 Northern white-cheeked gibbon -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C0 75.14 0.00 Tolerated 1 III.64 good 9.486E-1 0.03929 189 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A110C:p.Q37P . FAM209A:NM_001012971:exon1:c.A110C:p.Q37P . . 0.13402061 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.044 . . 97.0 . . . . . . . . . . -1.0578 -0.783 -1.058 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.557 @ . . . . . . ENSG00000124103 . FAM209A . . . 0.224 0.184 . . . . . . . Uncertain_significance . 0 . 0.345 . . . . T 0.022 0.001 . . 37 . 0.014 . . 0.414 . . . 0.024 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.509 . 0.248 . LowAF 1 . . . . . . . . . . . . . XI.89 . ENST00000371328 V.51 IV.57 . 1.000000 Q5JX71 . . . . . 0.054 . . IV.57 . . . . . . . . . . . . . . . . . . . 0.246 . 1.317 1.317000 . . 1.000000 . . 1.0E-189 0.919 0.317 . 0.062 0.257 . 0.411 . 0.064 1.317 -0.011 . . . . . 1 1538 10 1/0 0,230,255 +. 20 55099974 A C - GCNT7 16099 Glucosaminyl (N-acetyl) transferase family member 7 NM_080615.1 -1 2064 1293 NP_542182.1 Q6ZNI0 substitution intron GRCh37 55099974 55099974 Chr20(GRCh37):g.55099974A>C 301 301 NM_080615.1:c.-564+865T>G p.? p.? 1 1 865 5' 89.8108 8.67858 0.984935 3.24569 89.8108 8.67858 0.984935 3.24569 0 transversion T G T>G 0.890 1.820 189 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A110C:p.Q37P . FAM209A:NM_001012971:exon1:c.A110C:p.Q37P . . 0.13402061 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.044 . . 97.0 . . . . . . . . . . -1.0578 -0.783 -1.058 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.557 @ . . . . . . ENSG00000124103 . FAM209A . . . 0.224 0.184 . . . . . . . Uncertain_significance . 0 . 0.345 . . . . T 0.022 0.001 . . 37 . 0.014 . . 0.414 . . . 0.024 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.509 . 0.248 . LowAF 1 . . . . . . . . . . . . . XI.89 . ENST00000371328 V.51 IV.57 . 1.000000 Q5JX71 . . . . . 0.054 . . IV.57 . . . . . . . . . . . . . . . . . . . 0.246 . 1.317 1.317000 . . 1.000000 . . 1.0E-189 0.919 0.317 . 0.062 0.257 . 0.411 . 0.064 1.317 -0.011 . . . . . 1 1538 10 1/0 0,230,255 +. 20 55099975 A G - FAM209A 16100 Family with sequence similarity 209, member A NM_001012971.3 1 678 516 NP_001012989.2 Q5JX71 substitution synonymous exon GRCh37 55099975 55099975 Chr20(GRCh37):g.55099975A>G 111 111 NM_001012971.3:c.111A>G p.Gln37= p.Gln37Gln 1 -139 5' 94.6745 X.23 0.998703 4.60876 94.6745 X.23 0.998703 4.60876 0 New Donor Site 55099974 2.11205 0.019681 60.091 transition A G A>G 0.016 -3.830 Q Gln CAA 0.256 Q Gln CAG 0.744 37 199 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A111G:p.Q37Q . FAM209A:NM_001012971:exon1:c.A111G:p.Q37Q . . 0.15625 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.6612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000124103 . FAM209A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +. 20 55099975 A G - GCNT7 16099 Glucosaminyl (N-acetyl) transferase family member 7 NM_080615.1 -1 2064 1293 NP_542182.1 Q6ZNI0 substitution intron GRCh37 55099975 55099975 Chr20(GRCh37):g.55099975A>G 300 300 NM_080615.1:c.-564+864T>C p.? p.? 1 1 864 5' 89.8108 8.67858 0.984935 3.24569 89.8108 8.67858 0.984935 3.24569 0 transition T C T>C 0.016 -3.830 199 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A111G:p.Q37Q . FAM209A:NM_001012971:exon1:c.A111G:p.Q37Q . . 0.15625 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.6612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000124103 . FAM209A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs868327484 20 55099977 A G - FAM209A 16100 Family with sequence similarity 209, member A NM_001012971.3 1 678 516 NP_001012989.2 Q5JX71 substitution missense exon GRCh37 55099977 55099977 Chr20(GRCh37):g.55099977A>G 113 113 NM_001012971.3:c.113A>G p.Tyr38Cys p.Tyr38Cys 1 -137 5' 94.6745 X.23 0.998703 4.60876 94.6745 X.23 0.998703 4.60876 0 rs868327484 no no 0 A 0.000000 0 transition A G A>G 0.961 1.820 Y Tyr TAC 0.562 C Cys TGC 0.552 38 12 5 Northern white-cheeked gibbon -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 193.72 0.00 Tolerated 0.35 III.64 good 9.769E-1 0.001794 197 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A113G:p.Y38C . FAM209A:NM_001012971:exon1:c.A113G:p.Y38C . . 0.15151516 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.032 . . 99.0 . . . . . . . . . . -1.1475 -0.942 -1.147 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.066 . . exonic exonic exonic . . 0.546 @ . . . . . . ENSG00000124103 . FAM209A . . . 0.210 0.182 . . . . . . . Uncertain_significance . 0 . 0.394 . . . . T 0.059 0.003 . . 37 . 0.024 . . 0.335 . . . 0.047 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.421 . 0.226 . HET 1 . . . . . . . . . . . . . X.41 . ENST00000371328 V.51 IV.52 . 1.000000 Q5JX71 . . . . . 0.021 . . IV.52 . . . . . . . . . . . . . . . . . . . 0.246 . 1.302 1.302000 . . 1.000000 . . 1.0E-197 0.549 0.271 . 0.016 0.431 . 0.405 . 0.008 1.302 -0.056 . . . . . 1 1538 10 1/0 0,231,255 +rs868327484 20 55099977 A G - GCNT7 16099 Glucosaminyl (N-acetyl) transferase family member 7 NM_080615.1 -1 2064 1293 NP_542182.1 Q6ZNI0 substitution intron GRCh37 55099977 55099977 Chr20(GRCh37):g.55099977A>G 298 298 NM_080615.1:c.-564+862T>C p.? p.? 1 1 862 5' 89.8108 8.67858 0.984935 3.24569 89.8108 8.67858 0.984935 3.24569 0 rs868327484 no no 0 A 0.000000 0 transition T C T>C 0.961 1.820 197 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A113G:p.Y38C . FAM209A:NM_001012971:exon1:c.A113G:p.Y38C . . 0.15151516 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.032 . . 99.0 . . . . . . . . . . -1.1475 -0.942 -1.147 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.066 . . exonic exonic exonic . . 0.546 @ . . . . . . ENSG00000124103 . FAM209A . . . 0.210 0.182 . . . . . . . Uncertain_significance . 0 . 0.394 . . . . T 0.059 0.003 . . 37 . 0.024 . . 0.335 . . . 0.047 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.421 . 0.226 . HET 1 . . . . . . . . . . . . . X.41 . ENST00000371328 V.51 IV.52 . 1.000000 Q5JX71 . . . . . 0.021 . . IV.52 . . . . . . . . . . . . . . . . . . . 0.246 . 1.302 1.302000 . . 1.000000 . . 1.0E-197 0.549 0.271 . 0.016 0.431 . 0.405 . 0.008 1.302 -0.056 . . . . . 1 1538 10 1/0 0,231,255 +rs765922904 20 55099978 C T - FAM209A 16100 Family with sequence similarity 209, member A NM_001012971.3 1 678 516 NP_001012989.2 Q5JX71 substitution synonymous exon GRCh37 55099978 55099978 Chr20(GRCh37):g.55099978C>T 114 114 NM_001012971.3:c.114C>T p.Tyr38= p.Tyr38Tyr 1 -136 5' 94.6745 X.23 0.998703 4.60876 94.6745 X.23 0.998703 4.60876 0 rs765922904 yes no Frequency 1 C 0.000000 0 0.000065 0.000065 0.000000 0.000000 0.000406 0.000000 0.000072 0.000000 0.000000 0.000406 16 1 0 0 7 0 8 0 0 245638 15292 33544 9848 17242 30748 111364 22128 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 1 0 0 7 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 90 Exomes transition C T C>T 0.961 0.286 Y Tyr TAC 0.562 Y Tyr TAT 0.438 38 191 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.C114T:p.Y38Y . FAM209A:NM_001012971:exon1:c.C114T:p.Y38Y . . 0.13861386 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . 0.6008 . . . . . . . . 7.893e-05 . . . 9.628e-05 9.924e-05 0 0.0007 0 9.503e-05 0 0 0.0001 8.476e-05 0 0.0005 0 7.362e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.21 182 ENSG00000124103 . FAM209A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs765922904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.539e-05 6.514e-05 0 0 0.0004 0 7.184e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs765922904 20 55099978 C T - GCNT7 16099 Glucosaminyl (N-acetyl) transferase family member 7 NM_080615.1 -1 2064 1293 NP_542182.1 Q6ZNI0 substitution intron GRCh37 55099978 55099978 Chr20(GRCh37):g.55099978C>T 297 297 NM_080615.1:c.-564+861G>A p.? p.? 1 1 861 5' 89.8108 8.67858 0.984935 3.24569 89.8108 8.67858 0.984935 3.24569 0 rs765922904 yes no Frequency 1 C 0.000000 0 0.000065 0.000065 0.000000 0.000000 0.000406 0.000000 0.000072 0.000000 0.000000 0.000406 16 1 0 0 7 0 8 0 0 245638 15292 33544 9848 17242 30748 111364 22128 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 1 0 0 7 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 90 Exomes transition G A G>A 0.961 0.286 191 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.C114T:p.Y38Y . FAM209A:NM_001012971:exon1:c.C114T:p.Y38Y . . 0.13861386 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . 0.6008 . . . . . . . . 7.893e-05 . . . 9.628e-05 9.924e-05 0 0.0007 0 9.503e-05 0 0 0.0001 8.476e-05 0 0.0005 0 7.362e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.21 182 ENSG00000124103 . FAM209A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs765922904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.539e-05 6.514e-05 0 0 0.0004 0 7.184e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs755200614 20 55108587 T C - FAM209B 16101 Family with sequence similarity 209, member B NM_001013646.3 1 692 516 NP_001013668.2 Q5JX69 substitution synonymous exon GRCh37 55108587 55108587 Chr20(GRCh37):g.55108587T>C 190 190 NM_001013646.3:c.190T>C p.Leu64= p.Leu64Leu 1 -60 5' 94.6745 X.23 0.998703 5.58017 94.6745 X.23 0.998703 6.02833 0 rs755200614 yes no Frequency 1 T 0.000000 0 0.000040 0.000458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000458 11 11 0 0 0 0 0 0 0 276854 24016 34404 10148 18866 30768 126506 25692 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 11 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.409 L Leu TTG 0.127 L Leu CTG 0.404 64 196 PASS . . . . . . . . . . . ENSG00000213714:ENST00000371325:exon1:c.T190C:p.L64L FAM209B:uc002xxz.4:exon1:c.T190C:p.L64L FAM209B:NM_001013646:exon1:c.T190C:p.L64L . . 0.14864865 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 148.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L64|FAM209B|mRNA|CODING|NM_001013646|NM_001013646.ex.1) . . . . . . . -0.1886 . . . . . . . . 8.682e-05 . . . 0.0004 0.0001 0 0 0 0.0001 0 0 0.0004 3.766e-05 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000213714 FAM209B FAM209B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs755200614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 8.132e-06 0 0 0 0 0 0 0 0.0010 0.0003 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs781339391 20 55108589 G T - FAM209B 16101 Family with sequence similarity 209, member B NM_001013646.3 1 692 516 NP_001013668.2 Q5JX69 substitution missense exon GRCh37 55108589 55108589 Chr20(GRCh37):g.55108589G>T 192 192 NM_001013646.3:c.192G>T p.Leu64Phe p.Leu64Phe 1 -58 5' 94.6745 X.23 0.998703 5.58017 94.6745 X.23 0.998703 4.67926 0 rs781339391 yes no Frequency 1 G 0.000000 0 0.000036 0.000416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000416 10 10 0 0 0 0 0 0 0 276904 24018 34406 10148 18868 30770 126536 25704 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -0.763 L Leu TTG 0.127 F Phe TTT 0.454 64 12 6 White-tuffed-ear marmoset 1 0 0 0 0 4.IX 5.II 111 132 22 C0 156.90 0.00 Tolerated 0.39 III.75 good 8.35E-1 0.1755 193 PASS . . . . . . . . . . . ENSG00000213714:ENST00000371325:exon1:c.G192T:p.L64F FAM209B:uc002xxz.4:exon1:c.G192T:p.L64F FAM209B:NM_001013646:exon1:c.G192T:p.L64F . . 0.14285715 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.102 . @ . . . . . 1 0.123 . . 154.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttT|L64F|FAM209B|mRNA|CODING|NM_001013646|NM_001013646.ex.1) . . . . . . . -1.6919 -1.765 -1.692 c . . . . . 9.471e-05 . . . 0.0004 0.0001 0 0 0 0.0002 0 0 0.0004 3.766e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.088 . . exonic exonic exonic . . 0.041 @ . . . . . . ENSG00000213714 FAM209B FAM209B . . . 0.002 0.094 . . . . . . . Uncertain_significance . 0 . 0.040 . . . . T 0.053 0.003 . . 37 . 0.044 . . 0.377 . . . 0.225 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.055 . . . . . 0.090 . 0.176 . LowAF 0.53 rs781339391 . . . . . . . . . . . . 4.0099 . ENST00000371325 2.VIII -3.7 . 0.790000 Q5JX69 . . . . . 0.008 . . . 0.0001 8.131e-06 0 0 0 0 0 0 0 0.0009 0.0003 0 0 0 0 0 0 . . 0.246 . -1.037 -1.037000 . . 0.790000 . . 1.0E-193 0.000 0.063 . 0.074 0.169 . 0.015 . 0.124 -1.037 -1.140 . . . . . 1 1538 10 1/0 0,212,255 +rs187749495 20 56811270 G A - PPP4R1L 15755 Protein phosphatase 4, regulatory subunit 1-like (pseudogene) NR_003505.3 -1 2398 0 substitution exon GRCh37 56811270 56811270 Chr20(GRCh37):g.56811270G>A 2094 2094 NR_003505.3:n.2094C>T 15 -61 5' 74.3341 5.16937 0.801902 0 74.3341 5.16937 0.801902 0 0 Cryptic Acceptor Strongly Activated 56811257 2.37419 0.087615 70.6547 3.20171 0.231455 73.7704 rs187749495 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.007000 0.000000 0.004137 0.000654 0.000451 0.002020 0.000086 0.000759 0.004822 0.015829 0.004417 0.015829 732 10 11 17 1 17 337 318 21 176926 15290 24388 8414 11692 22412 69886 20090 4754 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000057 0.000398 0.000000 6 0 0 0 0 0 2 4 0 720 10 11 17 1 17 333 310 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.024 -2.054 255 PASS . 0.0023 . . 0.01 . 0.0016 . . 0.007 0.001 ENSG00000124224:ENST00000497138:exon7:c.C822T:p.H274H . . . . 0.6097561 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H698|PPP4R1L|Non-coding_transcript|NON_CODING|NR_003505|NR_003505.ex.15) . . . . . . . -1.0322 . . . . . . . . 3.860e-03 . . . 0 0.0016 0 0 0.0238 0.0029 0 0.0010 0 0.0038 0 0 0.0202 0.0033 0 0.0010 synonymous_SNV . . . . . exonic intergenic ncRNA_exonic . . . 0.0016 . . . 0.49 0.47 182 ENSG00000124224 . PPP4R1L . dist\x3d75087\x3bdist\x3d9569 . . . . 249 0.00383218 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187749495 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 XI.86 . ENST00000457990 V.19 -7.71 . 0.010000 . . . . . . . . . . 0.0003 0.0034 0.0005 0.0020 9.929e-05 0.0168 0.0030 0.0029 0.0008 0.0009 0.0074 0 0.0033 0 0.0112 0.0114 0.0102 . . . . -1.620 -1.620000 . . 0.010000 . . 1.0E-255 . . . . . . . . . -1.620 . 0.01 . . rs187749495 rs187749495 1 1538 10 1/0 0,255,255 +. 20 57282108 T G - NPEPL1 16244 Aminopeptidase-like 1 NM_024663.3 1 2185 1572 NP_078939.3 Q8NDH3 substitution intron GRCh37 57282108 57282108 Chr20(GRCh37):g.57282108T>G 823-71 823-71 NM_024663.3:c.823-71T>G p.? p.? 7 6 -71 3' 75.9543 9.05131 0.138026 XII.77 75.9543 9.05131 0.138026 13.2812 0 0.000268 0.000131 0.001667 0.000000 0.000000 0.000000 0.000155 0.001310 0.000000 0.001667 7 1 1 0 0 0 2 3 0 26132 7642 600 276 1584 0 12936 2290 804 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 1 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion T G T>G 0.000 -1.247 216 PASS . . . . . . . . . . . . . . . . 0.20512821 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . NPEPL1 STX16-NPEPL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0017 0 0 0.0013 0.0002 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 20 57282108 T G - STX16-NPEPL1 41993 STX16-NPEPL1 readthrough (NMD candidate) NR_037945.1 1 4048 0 substitution intron GRCh37 57282108 57282108 Chr20(GRCh37):g.57282108T>G 2781-71 2781-71 NR_037945.1:n.2781-71T>G p.? p.? 18 17 -71 3' 75.9543 9.05131 0.138026 XII.77 75.9543 9.05131 0.138026 13.2812 0 0.000268 0.000131 0.001667 0.000000 0.000000 0.000000 0.000155 0.001310 0.000000 0.001667 7 1 1 0 0 0 2 3 0 26132 7642 600 276 1584 0 12936 2290 804 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 1 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion T G T>G 0.000 -1.247 216 PASS . . . . . . . . . . . . . . . . 0.20512821 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . NPEPL1 STX16-NPEPL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0017 0 0 0.0013 0.0002 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs755613055 20 57767355 G A - ZNF831 16167 Zinc finger protein 831 NM_178457.2 1 9404 5034 NP_848552.1 Q5JPB2 substitution synonymous exon GRCh37 57767355 57767355 Chr20(GRCh37):g.57767355G>A 1281 1281 NM_178457.2:c.1281G>A p.Val427= p.Val427Val 1 -2458 5' 82.523 9.06409 0.965791 9.50807 82.523 9.06409 0.965791 9.50807 0 Cryptic Donor Strongly Activated 57767352 III.47 0.121653 66.2158 6.10781 0.696277 70.5782 rs755613055 yes no Frequency 1 0.000000 0 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000050 0.000000 0.000000 0.000050 5 0 0 0 0 0 5 0 0 223470 14686 31258 7966 16762 27020 100456 20406 4916 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Exomes transition G A G>A 0.913 -0.279 V Val GTG 0.468 V Val GTA 0.114 427 255 PASS . . . . . . . . . . . ENSG00000124203:ENST00000371030:exon1:c.G1281A:p.V427V ZNF831:uc002yan.3:exon1:c.G1281A:p.V427V ZNF831:NM_178457:exon1:c.G1281A:p.V427V . . 0.54268295 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 164.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V427|ZNF831|mRNA|CODING|NM_178457|NM_178457.ex.1) . . . . . . . I.08 . . . . . . . . 7.990e-06 . . . 0 1.427e-05 0 0 0 3.037e-05 0 0 0 1.172e-05 0 0 0 2.185e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000124203 ZNF831 ZNF831 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755613055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.27 0 2.237e-05 0 0 0 0 4.977e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,244 +. 20 60909814 C CT - LAMA5 6485 Laminin, alpha 5 NM_005560.4 -1 11431 11088 NP_005551.3 O15230 insertion intron GRCh37 60909814 60909815 Chr20(GRCh37):g.60909814_60909815insT 2483-138 2483-137 NM_005560.4:c.2483-138_2483-137insA p.? p.? 21 20 601033 -137 3' 90.3044 XII.67 0.989756 18.6399 90.3044 XII.67 0.989756 18.6399 0 New Acceptor Site 60909813 7.93268 0.538038 73.44 rs56242777 yes no Frequency/1000G 2 0.000000 0 0.735823 0.513600 0.845600 0.853200 0.806200 0.732000 0.000137 0.000000 0.000000 0.000000 0.006024 0.000000 0.000000 0.000000 0.000000 0.006024 2 0 0 0 2 0 0 0 0 14600 4060 474 116 332 0 6288 2794 536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 99 Genomes A 255 Pass . . . . . 0.51 0.74 0.73 0.85 0.81 0.85 . . . . . 0.52 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000130702 LAMA5 LAMA5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56242777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0.0060 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs56242777 rs56242777 1 1538 10 1.I 0,12,28 +rs550769049 20 60909815 G C - LAMA5 6485 Laminin, alpha 5 NM_005560.4 -1 11431 11088 NP_005551.3 O15230 substitution intron GRCh37 60909815 60909815 Chr20(GRCh37):g.60909815G>C 2483-138 2483-138 NM_005560.4:c.2483-138C>G p.? p.? 21 20 601033 -138 3' 90.3044 XII.67 0.989756 18.6399 90.3044 XII.67 0.989756 18.6399 0 rs550769049 yes no Frequency/1000G 2 G 0.000000 0 0.735823 0.513600 0.845600 0.853200 0.806200 0.732000 0.000424 0.000000 0.000000 0.000000 0.009009 0.000000 0.000000 0.001076 0.000000 0.009009 4 0 0 0 2 0 0 2 0 9436 2362 318 86 222 0 4220 1858 370 0.250000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 1 0 0 0 0 0 0 1 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 154 Genomes transversion C G C>G 0.000 -0.117 255 PASS . . . . . 0.51 0.74 0.73 0.85 0.81 0.85 . . . . . 0.5 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.2115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2642 . . . . . . ENSG00000130702 LAMA5 LAMA5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550769049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0.0090 0.0011 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs7268826 20 60909832 T C - LAMA5 6485 Laminin, alpha 5 NM_005560.4 -1 11431 11088 NP_005551.3 O15230 substitution intron GRCh37 60909832 60909832 Chr20(GRCh37):g.60909832T>C 2483-155 2483-155 NM_005560.4:c.2483-155A>G p.? p.? 21 20 601033 -155 3' 90.3044 XII.67 0.989756 18.6399 90.3044 XII.67 0.989756 18.6399 0 rs7268826 no no 0 C 0.000000 0 0.005930 0.007267 0.000000 0.000000 0.020492 0.000000 0.006731 0.001181 0.006803 0.020492 54 20 0 0 5 0 25 2 2 9106 2752 342 66 244 0 3714 1694 294 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 20 0 0 5 0 25 2 2 0 0 0 0 0 0 0 0 0 RF 156 Genomes transition A G A>G 0.000 -2.619 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.5202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.11 182 ENSG00000130702 LAMA5 LAMA5 . . . . . . 1470 0.0226237 64976 1375 0.022922 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7268826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0073 0.0059 0 0 0.0205 0.0012 0.0067 0.0068 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7268826 rs7268826 rs7268826 rs7268826 1 1538 10 1/0 0,255,255 +. (chr20:61326439 T/TCTGCACCTGCACATGCAC) 20 61326439 T TCTGCACCTGCACATGCAC No Alamut gene - other known genes: C20orf90 C20orf90 +rs1063246 20 61472116 G A - COL9A3 2219 Collagen, type IX, alpha 3 NM_001853.3 1 2485 2055 NP_001844.3 Q14050 substitution 3'UTR GRCh37 61472116 61472116 Chr20(GRCh37):g.61472116G>A *32 *32 NM_001853.3:c.*32G>A p.? p.? 32 120270 223 3' 77.0979 9.99448 0.60885 9.97539 77.0979 9.99448 0.60885 9.97539 0 rs1063246 yes no Frequency/1000G 2 G 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 0.000011 0.000000 0.000000 0.000000 0.000084 0.000000 0.000000 0.000054 0.000000 0.000084 2 0 0 0 1 0 0 1 0 179764 16408 24778 8418 11940 22694 72140 18568 4818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 255 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.33333334 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 75.0 . . . . . . . . . . -0.1962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.34 0.65 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*32G>A . NM_001853:c.*32G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1063246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.717e-06 0 0 0 6.633e-05 0 0 0 0 3.238e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063246 rs1063246 rs1063246 rs1063246 1 1538 10 1/0 0,255,255 +rs1063246 20 61472116 G A - TCFL5 11646 Transcription factor-like 5 (basic helix-loop-helix) NM_006602.3 -1 2557 1503 NP_006593.2 Q9UL49 substitution downstream GRCh37 61472116 61472116 Chr20(GRCh37):g.61472116G>A *1211 *1211 NM_006602.3:c.*1211C>T p.? p.? 6 604745 1334 3' 92.0271 8.91175 0.904 7.82238 92.0271 8.91175 0.904 7.82238 0 rs1063246 yes no Frequency/1000G 2 G 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 0.000011 0.000000 0.000000 0.000000 0.000084 0.000000 0.000000 0.000054 0.000000 0.000084 2 0 0 0 1 0 0 1 0 179764 16408 24778 8418 11940 22694 72140 18568 4818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.521 255 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.33333334 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 75.0 . . . . . . . . . . -0.1962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.34 0.65 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*32G>A . NM_001853:c.*32G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1063246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.717e-06 0 0 0 6.633e-05 0 0 0 0 3.238e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063246 rs1063246 rs1063246 rs1063246 1 1538 10 1/0 0,255,255 +rs3210314 20 61472117 C A - COL9A3 2219 Collagen, type IX, alpha 3 NM_001853.3 1 2485 2055 NP_001844.3 Q14050 substitution 3'UTR GRCh37 61472117 61472117 Chr20(GRCh37):g.61472117C>A *33 *33 NM_001853.3:c.*33C>A p.? p.? 32 120270 224 3' 77.0979 9.99448 0.60885 9.97539 77.0979 9.99448 0.60885 9.97539 0 rs3210314 yes no Frequency/1000G 2 C 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 transversion C A C>A 0.000 0.286 248 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.30136988 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.1062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.27 0.65 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*33C>A . NM_001853:c.*33C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3210314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . rs3210314 rs3210314 rs3210314 rs3210314 1 1538 10 1/0 0,255,255 +rs3210314 20 61472117 C A - TCFL5 11646 Transcription factor-like 5 (basic helix-loop-helix) NM_006602.3 -1 2557 1503 NP_006593.2 Q9UL49 substitution downstream GRCh37 61472117 61472117 Chr20(GRCh37):g.61472117C>A *1210 *1210 NM_006602.3:c.*1210G>T p.? p.? 6 604745 1333 3' 92.0271 8.91175 0.904 7.82238 92.0271 8.91175 0.904 7.82238 0 rs3210314 yes no Frequency/1000G 2 C 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 transversion G T G>T 0.000 0.286 248 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.30136988 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.1062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.27 0.65 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*33C>A . NM_001853:c.*33C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3210314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . rs3210314 rs3210314 rs3210314 rs3210314 1 1538 10 1/0 0,255,255 +rs1063247 20 61472118 C G - COL9A3 2219 Collagen, type IX, alpha 3 NM_001853.3 1 2485 2055 NP_001844.3 Q14050 substitution 3'UTR GRCh37 61472118 61472118 Chr20(GRCh37):g.61472118C>G *34 *34 NM_001853.3:c.*34C>G p.? p.? 32 120270 225 3' 77.0979 9.99448 0.60885 9.97539 77.0979 9.99448 0.60885 9.97539 0 rs1063247 yes no Frequency/1000G 2 C 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148780 7724 23936 8120 10326 22682 57084 15068 3840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 81 Exomes transversion C G C>G 0.000 0.125 255 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.34177214 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . . . . . . . . . -0.0018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.29 0.69 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*34C>G . NM_001853:c.*34C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1063247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063247 rs1063247 rs1063247 rs1063247 1 1538 10 1/0 0,255,255 +rs1063247 20 61472118 C G - TCFL5 11646 Transcription factor-like 5 (basic helix-loop-helix) NM_006602.3 -1 2557 1503 NP_006593.2 Q9UL49 substitution downstream GRCh37 61472118 61472118 Chr20(GRCh37):g.61472118C>G *1209 *1209 NM_006602.3:c.*1209G>C p.? p.? 6 604745 1332 3' 92.0271 8.91175 0.904 7.82238 92.0271 8.91175 0.904 7.82238 0 rs1063247 yes no Frequency/1000G 2 C 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148780 7724 23936 8120 10326 22682 57084 15068 3840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 81 Exomes transversion G C G>C 0.000 0.125 255 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.34177214 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . . . . . . . . . -0.0018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.29 0.69 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*34C>G . NM_001853:c.*34C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1063247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063247 rs1063247 rs1063247 rs1063247 1 1538 10 1/0 0,255,255 +rs141522376 20 62327126 C G - RTEL1 15888 Regulator of telomere elongation helicase 1 NM_001283009.1 1 5125 3903 NP_001269938.1 substitution splice site GRCh37 62327126 62327126 Chr20(GRCh37):g.62327126C>G 3823-5 3823-5 NM_001283009.1:c.3823-5C>G p.? p.? 35 34 608833 -5 3' 85.2003 8.44361 0.750447 5.62697 82.4115 7.65269 0.244523 4.01949 -0.266855 rs141522376 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002722 0.001155 0.002429 0.000000 0.000061 0.000036 0.004728 0.001710 0.002997 0.004728 633 24 72 0 1 1 481 37 17 232540 20772 29642 9306 16350 27430 101734 21634 5672 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 2 0 0 0 0 0 2 0 0 629 24 72 0 1 1 477 37 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8524 4334 12858 30 6 36 0.00350713 0.00138249 0.002792 0.00350713 0.00138249 0.002792 42 RCV000503641.1 germline clinical testing Likely benign 1 not specified transversion C G C>G 0.992 0.448 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.484375 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . 0.0014 0.0028 0.0035 0.0014 0.0028 0.0035 . I.33 . . . . . . . . 2.672e-03 . . . 0.0013 0.0030 0.0053 0.0007 0.0011 0.0050 0.0031 0 0.0011 0.0044 0.0057 0.0006 0.0027 0.0077 0.0035 0 . . . . . . intronic intronic ncRNA_intronic . . . 0.0016 . . . 0.31 0.26 182 . . RTEL1-TNFRSF6B . . . . . . 199 0.00306267 64976 192 0.00320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 13 . . . . . . . . . . HET . rs141522376 0.011 0.007 . . . . . . . . . . . . . . . . . . 0.0017 0.096 . 0.002792 . . . . II.26 0.0006 0.0027 0.0024 0 6.79e-05 0.0018 0.0049 0.0034 3.646e-05 0.0020 0.0027 0.0048 0 0 0.0014 0.0037 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141522376 rs141522376 1 1538 10 1/0 0,255,255 +rs141522376 20 62327126 C G - RTEL1-TNFRSF6B 44095 RTEL1-TNFRSF6B readthrough (NMD candidate) NR_037882.1 1 5772 0 substitution splice site GRCh37 62327126 62327126 Chr20(GRCh37):g.62327126C>G 4650-5 4650-5 NR_037882.1:n.4650-5C>G p.? p.? 35 34 -5 3' 85.2003 8.44361 0.750447 5.62697 82.4115 7.65269 0.244523 4.01949 -0.266855 rs141522376 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002722 0.001155 0.002429 0.000000 0.000061 0.000036 0.004728 0.001710 0.002997 0.004728 633 24 72 0 1 1 481 37 17 232540 20772 29642 9306 16350 27430 101734 21634 5672 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 2 0 0 0 0 0 2 0 0 629 24 72 0 1 1 477 37 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8524 4334 12858 30 6 36 0.00350713 0.00138249 0.002792 0.00350713 0.00138249 0.002792 42 RCV000503641.1 germline clinical testing Likely benign 1 not specified transversion C G C>G 0.992 0.448 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.484375 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . 0.0014 0.0028 0.0035 0.0014 0.0028 0.0035 . I.33 . . . . . . . . 2.672e-03 . . . 0.0013 0.0030 0.0053 0.0007 0.0011 0.0050 0.0031 0 0.0011 0.0044 0.0057 0.0006 0.0027 0.0077 0.0035 0 . . . . . . intronic intronic ncRNA_intronic . . . 0.0016 . . . 0.31 0.26 182 . . RTEL1-TNFRSF6B . . . . . . 199 0.00306267 64976 192 0.00320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 13 . . . . . . . . . . HET . rs141522376 0.011 0.007 . . . . . . . . . . . . . . . . . . 0.0017 0.096 . 0.002792 . . . . II.26 0.0006 0.0027 0.0024 0 6.79e-05 0.0018 0.0049 0.0034 3.646e-05 0.0020 0.0027 0.0048 0 0 0.0014 0.0037 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141522376 rs141522376 1 1538 10 1/0 0,255,255 +rs141522376 20 62327126 C G - TNFRSF6B 11921 Tumor necrosis factor receptor superfamily, member 6b, decoy NM_003823.3 1 1155 903 NP_003814.1 O95407 substitution upstream GRCh37 62327126 62327126 Chr20(GRCh37):g.62327126C>G -995 -995 NM_003823.3:c.-995C>G p.? p.? 1 603361 -1419 5' 81.348 7.62374 0.940127 12.019 81.348 7.62374 0.940127 12.019 0 rs141522376 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002722 0.001155 0.002429 0.000000 0.000061 0.000036 0.004728 0.001710 0.002997 0.004728 633 24 72 0 1 1 481 37 17 232540 20772 29642 9306 16350 27430 101734 21634 5672 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 2 0 0 0 0 0 2 0 0 629 24 72 0 1 1 477 37 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8524 4334 12858 30 6 36 0.00350713 0.00138249 0.002792 0.00350713 0.00138249 0.002792 42 RCV000503641.1 germline clinical testing Likely benign 1 not specified transversion C G C>G 0.992 0.448 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.484375 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . 0.0014 0.0028 0.0035 0.0014 0.0028 0.0035 . I.33 . . . . . . . . 2.672e-03 . . . 0.0013 0.0030 0.0053 0.0007 0.0011 0.0050 0.0031 0 0.0011 0.0044 0.0057 0.0006 0.0027 0.0077 0.0035 0 . . . . . . intronic intronic ncRNA_intronic . . . 0.0016 . . . 0.31 0.26 182 . . RTEL1-TNFRSF6B . . . . . . 199 0.00306267 64976 192 0.00320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 13 . . . . . . . . . . HET . rs141522376 0.011 0.007 . . . . . . . . . . . . . . . . . . 0.0017 0.096 . 0.002792 . . . . II.26 0.0006 0.0027 0.0024 0 6.79e-05 0.0018 0.0049 0.0034 3.646e-05 0.0020 0.0027 0.0048 0 0 0.0014 0.0037 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141522376 rs141522376 1 1538 10 1/0 0,255,255 +rs577963504 20 62493029 A G - ABHD16B 16128 Abhydrolase domain containing 16B NM_080622.3 1 1776 1410 NP_542189.1 Q9H3Z7 substitution missense exon GRCh37 62493029 62493029 Chr20(GRCh37):g.62493029A>G 136 136 NM_080622.3:c.136A>G p.Ser46Gly p.Ser46Gly 1 rs577963504 yes no Frequency/1000G 2 A 0.000200 G 1 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000401 0.000000 0.000412 0.000000 0.000000 0.000403 0.000702 0.000000 0.000000 0.000702 64 0 10 0 0 9 45 0 0 159730 14358 24272 8202 11116 22328 64068 10876 4510 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 0 10 0 0 9 45 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -2.054 S Ser AGC 0.243 G Gly GGC 0.342 46 12 8 Mouse 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.89 III.37 good 9.972E-1 0.001124 255 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000183260:ENST00000369916:exon1:c.A136G:p.S46G ABHD16B:uc002ygx.1:exon1:c.A136G:p.S46G ABHD16B:NM_080622:exon1:c.A136G:p.S46G . . 0.5714286 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.096 . . 98.0 . . . . . . . . . . -1.5454 -1.706 -1.545 c . . . . . 1.671e-04 . . . 0 0.0005 0 0 . 0.0013 0 0.0003 0 0.0005 0 0 0 0.0012 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.008 0.0002 . . . . . . . ABHD16B ABHD16B . . . 1.000 0.747 . 13 0.000200074 64976 13 0.000216717 59986 Uncertain_significance . 0 . 0.181 . . . . D 0.565 0.035 . . 37 . 0.323 . . 0.106 . . . 0.203 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.312 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.512 . . . . . 0.373 . 0.015 . HET 0.23 rs577963504 . . . . . . . . . . . . IX.66 0.0 ENST00000369916 IV.31 -8.61 . 0.050000 Q9H3Z7 . . . . . 0.032 . . . 0 0.0004 0.0004 0 0 0 0.0008 0 0.0004 0 0.0003 0 0 0 0 0.0005 0 . . 0.090 . -1.609 -1.609000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.023 . 0.042 -1.609 0.079 . . . . . 1 1538 10 1/0 0,255,255 +rs73147065 20 62574006 A C - MIR1914 35398 MicroRNA 1914 NR_031735.1 -1 80 0 substitution upstream GRCh37 62574006 62574006 Chr20(GRCh37):g.62574006A>C -1109 -1109 NR_031735.1:n.-1109T>G p.? p.? 1 rs73147065 yes no Frequency/1000G 2 G 0.000000 0 0.006686 0.001588 0.001760 0.008264 0.000063 0.006894 0.010197 0.005882 0.006700 0.010197 1516 31 53 74 1 178 1016 126 37 226742 19522 30114 8954 15752 25820 99638 21420 5522 0.000097 0.000000 0.000000 0.000223 0.000000 0.000310 0.000100 0.000093 0.000000 11 0 0 1 0 4 5 1 0 1247 17 46 65 1 154 841 91 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.50549453 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . 0.5919 . . . . . . . . 5.513e-03 . . . 0.0022 0.0103 0.0036 0 0.0088 0.0161 0 0.0094 0.0024 0.0105 0.0038 0 0.0083 0.0163 0 0.0093 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.2306 . . . 0.28 0.28 182 ENSG00000207554 MIR647 MIR647 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs73147065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0068 0.0017 0.0083 0 0.0062 0.0103 0.0068 0.0069 0.0016 0.0060 0.0024 0.0066 0.0006 0.0040 0.0098 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs73147065 rs73147065 1 1538 10 1/0 0,255,255 +rs73147065 20 62574006 A C - MIR647 32903 MicroRNA 647 NR_030377.1 -1 96 0 substitution exon GRCh37 62574006 62574006 Chr20(GRCh37):g.62574006A>C 74 74 NR_030377.1:n.74T>G 1 rs73147065 yes no Frequency/1000G 2 G 0.000000 0 0.006686 0.001588 0.001760 0.008264 0.000063 0.006894 0.010197 0.005882 0.006700 0.010197 1516 31 53 74 1 178 1016 126 37 226742 19522 30114 8954 15752 25820 99638 21420 5522 0.000097 0.000000 0.000000 0.000223 0.000000 0.000310 0.000100 0.000093 0.000000 11 0 0 1 0 4 5 1 0 1247 17 46 65 1 154 841 91 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.50549453 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . 0.5919 . . . . . . . . 5.513e-03 . . . 0.0022 0.0103 0.0036 0 0.0088 0.0161 0 0.0094 0.0024 0.0105 0.0038 0 0.0083 0.0163 0 0.0093 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.2306 . . . 0.28 0.28 182 ENSG00000207554 MIR647 MIR647 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs73147065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0068 0.0017 0.0083 0 0.0062 0.0103 0.0068 0.0069 0.0016 0.0060 0.0024 0.0066 0.0006 0.0040 0.0098 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs73147065 rs73147065 1 1538 10 1/0 0,255,255 +rs73147065 20 62574006 A C - UCKL1 15938 Uridine-cytidine kinase 1 like 1 NM_001353475.1 -1 1872 1650 NP_001340404.1 substitution intron GRCh37 62574006 62574006 Chr20(GRCh37):g.62574006A>C 907-164 907-164 NM_001353475.1:c.907-164T>G p.? p.? 8 7 610866 -164 3' 0 0.156958 0.000675 1.81984 0 0.156958 0.000675 1.81984 0 rs73147065 yes no Frequency/1000G 2 G 0.000000 0 0.006686 0.001588 0.001760 0.008264 0.000063 0.006894 0.010197 0.005882 0.006700 0.010197 1516 31 53 74 1 178 1016 126 37 226742 19522 30114 8954 15752 25820 99638 21420 5522 0.000097 0.000000 0.000000 0.000223 0.000000 0.000310 0.000100 0.000093 0.000000 11 0 0 1 0 4 5 1 0 1247 17 46 65 1 154 841 91 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.50549453 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . 0.5919 . . . . . . . . 5.513e-03 . . . 0.0022 0.0103 0.0036 0 0.0088 0.0161 0 0.0094 0.0024 0.0105 0.0038 0 0.0083 0.0163 0 0.0093 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.2306 . . . 0.28 0.28 182 ENSG00000207554 MIR647 MIR647 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs73147065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0068 0.0017 0.0083 0 0.0062 0.0103 0.0068 0.0069 0.0016 0.0060 0.0024 0.0066 0.0006 0.0040 0.0098 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs73147065 rs73147065 1 1538 10 1/0 0,255,255 +rs143230244 20 62599339 C T - ZNF512B 29212 Zinc finger protein 512B NM_020713.2 -1 5922 2679 NP_065764.1 Q96KM6 substitution intron GRCh37 62599339 62599339 Chr20(GRCh37):g.62599339C>T -36 -36 NM_020713.2:c.-2-34G>A p.? p.? 2 1 -34 3' 87.743 8.13305 0.694926 7.68668 87.743 8.13305 0.694926 7.82734 0 rs143230244 yes no Frequency/1000G 2 C 0.000000 0 0.000130 0.000168 0.000147 0.000000 0.000000 0.000166 0.000169 0.000000 0.000000 0.000169 35 4 5 0 0 5 21 0 0 268660 23822 34038 9762 18742 30086 124238 21646 6326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 4 5 0 0 5 21 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4405 13003 2 1 3 0.000232558 0.000226963 0.000230663 0.000232558 0.000226963 0.000230663 40 transition G A G>A 0.000 -0.521 237 PASS 0.002 0.0005 . . . . . . . . . . . . . . 0.26666668 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||ZNF512B|mRNA|CODING|NM_020713|) 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . 0.1409 . . . . . . . . 1.503e-04 . . . 0.0002 0.0002 0.0003 0 0 0.0002 0 0.0003 0.0002 0.0002 0.0003 0 0 0.0001 0 0.0003 . . . . . . intronic intronic intronic . . . @ . . . 0.17 0.26 182 ENSG00000196700 ZNF512B ZNF512B . . . . . . 9 0.000138513 64976 8 0.000133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143230244 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0.0003 0.0001 0.0002 0 0 0 0.0002 0 0.0002 0 6.463e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.002 . . rs143230244 rs143230244 1 1538 10 1/0 0,255,255 +rs55884239 (chr20:62730227 C/G) 20 62730227 C G Sequence discrepancies in OPRL1 transcript(s): NM_001318853.1 OPRL1 +rs796547288 (chr21:9755877 T/A) 21 9755877 T A Not on a known gene +rs796386681 (chr21:9755930 T/G) 21 9755930 T G Not on a known gene +. (chr21:9768798 T/C) 21 9768798 T C Not on a known gene +. (chr21:9768829 C/T) 21 9768829 C T Not on a known gene +. (chr21:9768833 T/A) 21 9768833 T A Not on a known gene +. (chr21:9768859 G/T) 21 9768859 G T Not on a known gene +. (chr21:9768884 G/T) 21 9768884 G T Not on a known gene +. (chr21:9768901 G/T) 21 9768901 G T Not on a known gene +. (chr21:9768917 C/T) 21 9768917 C T Not on a known gene +. (chr21:9768920 C/A) 21 9768920 C A Not on a known gene +rs6841373 (chr21:9865961 C/T) 21 9865961 C T Not on a known gene +rs796140062 21 9907343 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907343 9907343 Chr21(GRCh37):g.9907343G>A 1458 1458 NR_038327.1:n.1458C>T 4 1090 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs796140062 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 275420 23882 34344 10124 18742 30528 126062 25292 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.984 1.174 203 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.C438T:p.V146V . . . 0.16629589 . . @ 299 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1798.0 . . . . . . . . . . 0.3613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.36 0.3 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.091e-06 0 0 0 0 0 0 3.276e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . 0.087 . . rs707018 rs707018 1 1538 10 1/0 0,107,210 +rs541724740 21 9907385 C A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907385 9907385 Chr21(GRCh37):g.9907385C>A 1416 1416 NR_038327.1:n.1416G>T 4 1048 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 Cryptic Acceptor Strongly Activated 9907372 2.08944 0.000674 67.2644 3.07461 0.006911 72.8609 rs541724740 yes no Frequency/1000G 2 0.000000 0 transversion G T G>T 0.992 2.707 201 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.G396T:p.L132L . . . 0.16069143 . . @ 251 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1562.0 . . . . . . . . . . 0.7916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0002 . . . 0.37 0.18 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs1052921 rs1052921 1 1538 10 1/0 0,113,213 +rs374344503 21 9907398 G C - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907398 9907398 Chr21(GRCh37):g.9907398G>C 1403 1403 NR_038327.1:n.1403C>G 4 1035 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs374344503 yes no Frequency 1 0.000000 0 transversion C G C>G 0.976 2.707 209 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.C383G:p.A128G . . . 0.18206339 . . @ 270 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1483.0 . . . . . . . . . . -0.5094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.31 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374344503 0.054 0.109 . . . . . . . . . . V.13 . ENST00000400754 0.109 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.181 0.181000 . . . . . 1.0E-209 . . . . . . . . . 0.181 . 0.054 . . rs1052920 rs1052920 1 1538 10 1/0 0,117,212 +rs377744985 21 9907402 G C - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907402 9907402 Chr21(GRCh37):g.9907402G>C 1399 1399 NR_038327.1:n.1399C>G 4 1031 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs377744985 no no 0 0.000000 0 transversion C G C>G 0.984 1.335 212 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.C379G:p.Q127E . . . 0.18854749 . . @ 270 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1432.0 . . . . . . . . . . -1.1701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.33 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377744985 0.054 0.109 . . . . . . . . . . 5.482 . ENST00000400754 0.109 -0.218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.406 -1.406000 . . . . . 1.0E-212 . . . . . . . . . -1.406 . 0.054 . . rs711875 rs377744985 1 1538 10 1/0 0,119,211 +rs754504817 21 9907434 T A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907434 9907434 Chr21(GRCh37):g.9907434T>A 1367 1367 NR_038327.1:n.1367A>T 4 999 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 Cryptic Acceptor Strongly Activated 9907422 0.002012 4.92019 0.02013 76.425 rs754504817 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148538 7864 24224 8296 10218 22936 60582 10488 3930 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 78 Exomes transversion A T A>T 0.110 -1.732 215 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.A347T:p.K116M . . . 0.20200334 . . @ 242 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1198.0 . . . . . . . . . . -1.3340 . . . . . . . . 1.821e-05 . . . 0 5.09e-05 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.4 0.25 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754504817 0.076 0.101 . . . . . . . . . . III.24 . ENST00000400754 0.109 -0.218 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -1.719 -1.719000 . . . . . 1.0E-215 . . . . . . . . . -1.719 . 0.076 . . rs711873 rs1810952 1 1538 10 1/0 0,128,216 +rs780638507 21 9907438 A T - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907438 9907438 Chr21(GRCh37):g.9907438A>T 1363 1363 NR_038327.1:n.1363T>A 4 995 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs780638507 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146892 7770 24142 8278 10168 22898 59734 9982 3920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 78 Exomes transversion T A T>A 0.150 0.044 219 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.T343A:p.Y115N . . . 0.21891418 . . @ 250 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1142.0 . . . . . . . . . . -1.3272 . . . . . . . . 9.222e-06 . . . 0 5.21e-05 0 0 0 0.0001 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.38 0.21 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs780638507 0.076 0.101 . . . . . . . . . . 3.373 . ENST00000400754 0.109 -0.218 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -1.712 -1.712000 . . . . . 1.0E-219 . . . . . . . . . -1.712 . 0.076 . . rs711872 rs3193200 1 1538 10 1/0 0,132,214 +rs867884246 21 9907470 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907470 9907470 Chr21(GRCh37):g.9907470G>A 1331 1331 NR_038327.1:n.1331C>T 4 963 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 Cryptic Acceptor Weakly Activated 9907462 1.09057 0.000938 58.1942 2.17329 0.000893 60.004 rs867884246 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 134742 6644 23662 8020 9974 22388 53186 7182 3686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 71 Exomes transition C T C>T 0.819 0.125 229 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.C311T:p.T104I . . . 0.23766816 . . @ 212 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 892.0 . . . . . . . . . . -0.6827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.2 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . ENST00000400754 0.109 0.109 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . 0.181 0.181000 . . . . . 1.0E-229 . . . . . . . . . 0.181 . 0.011 . . rs1810954 rs1810954 1 1538 10 1/0 0,145,229 +. 21 9908275 T C - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9908275 9908275 Chr21(GRCh37):g.9908275T>C 526 526 NR_038327.1:n.526A>G 4 158 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22716 7072 574 234 486 0 10592 3118 640 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transition A G A>G 0.331 -0.037 171 PASS . . . . . . . . . . . . . . . . 0.10039762 . . @ 101 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1006.0 . . . . . . . . . . 0.3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . uc002zka.2:c.*56A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,126,252 +. 21 9908298 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9908298 9908298 Chr21(GRCh37):g.9908298G>A 503 503 NR_038327.1:n.503C>T 4 135 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 Cryptic Acceptor Strongly Activated 9908287 2.20959 0.010525 67.8072 3.48533 0.020661 71.9091 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000143 0.000000 0.000143 2 0 0 0 0 0 1 1 0 72346 8800 4660 2724 1420 9670 36344 7014 1714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 1.255 197 PASS . . . . . . . . . . . . . . . . 0.14991182 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1134.0 . . . . . . . . . . 0.7510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . uc002zka.2:c.*33C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.721e-05 0 0 0 0 3.368e-05 0 0 0 7.029e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,126,231 +rs368738535 21 9908326 A G - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9908326 9908326 Chr21(GRCh37):g.9908326A>G 475 475 NR_038327.1:n.475T>C 4 107 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs368738535 yes no Frequency 1 0.000000 0 0.000226 0.000000 0.000659 0.000430 0.000000 0.000215 0.000254 0.000000 0.000000 0.000659 12 0 2 1 0 2 7 0 0 53202 3404 3036 2324 1040 9314 27588 5292 1204 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000072 0.000000 0.000000 1 0 0 0 0 0 1 0 0 10 0 2 1 0 2 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.984 1.255 255 PASS . . . . . . . . . . . . . . . . 0.4605621 . . @ 508 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1103.0 . . . . . . . . . . 0.3925 . . . . . . . . 3.020e-04 . . . 0 0.0008 0.0057 0 0 0.0010 0 0.0006 0 0.0003 0 0 0 0 0 0.0006 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . uc002zka.2:c.*5T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs368738535 0.457 0.442 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0007 0 0 0 0.0003 0 0.0002 0 0.0002 0 0.0135 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 . . rs368738535 rs368738535 1 1538 10 1/0 0,155,178 +rs866712175 21 9908331 C G - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9908331 9908331 Chr21(GRCh37):g.9908331C>G 470 470 NR_038327.1:n.470G>C 4 102 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs866712175 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6692 1482 104 78 70 0 3886 884 188 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 33 Genomes transversion G C G>C 0.850 -0.117 255 PASS . . . . . . . . . . . . TEKT4P2:uc002zka.2:exon4:c.G390C:p.X130Y . . . 0.47247708 . . @ 515 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 1090.0 . . . . . . . . . . -1.3116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stoploss . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.53 0.33 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0.41 . . . . . . . . . . . . . 2.1456 . ENST00000416067 . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . -2.049 -2.049000 . . . . . 1.0E-255 . . . . . . . . . -2.049 . . . . . . 1 1538 10 1/0 0,156,180 +rs879109034 21 9909078 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9909078 9909078 Chr21(GRCh37):g.9909078G>A 337 337 NR_038327.1:n.337C>T 3 -32 5' 80.2316 5.86969 0.403887 XI.37 80.2316 5.86969 0.403887 X.22 0 Cryptic Donor Strongly Activated 9909080 54.6174 2.08744 0.037497 63.4678 rs879109034 no no 0 0.000000 0 0.002324 0.003115 0.006158 0.000000 0.001767 0.004274 0.000421 0.000000 0.000000 0.006158 25 4 10 0 1 8 2 0 0 10756 1284 1624 192 566 1872 4748 142 328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 4 10 0 1 8 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.992 2.707 193 PASS . . . . . . . . . . . . . . . . 0.14222223 . . @ 160 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1125.0 . . . . . . . . . . -0.3554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.48 0.39 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.06 . 0.087 0.130 . . . . . . . . . . V.13 . ENST00000416067 0.109 0.109 . . B7WNX9 . . . . . . . . . 0.0033 0.0024 0.0062 0 0.0018 0 0.0004 0 0.0043 0 0 0 0 0 0 0 0 . . . . 0.181 0.181000 . . . . . 1.0E-193 . . . . . . . . . 0.181 . 0.087 . . rs9723115 rs9723115 1 1538 10 1/0 0,125,215 +rs878987242 21 9909274 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9909274 9909274 Chr21(GRCh37):g.9909274G>A 141 141 NR_038327.1:n.141C>T 3 4 3' 75.1598 9.00547 0.368498 13.5167 75.1598 9.00547 0.484655 13.2755 0.105072 rs878987242 no no 0 0.000000 0 0.000912 0.002079 0.003968 0.000000 0.006579 0.000000 0.000000 0.000000 0.000000 0.006579 10 8 1 0 1 0 0 0 0 10962 3848 252 84 152 122 4038 2144 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.488 -0.360 174 PASS . . . . . . . . . . . . . . . . 0.10084034 . . @ 120 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1190.0 . . . . . . . . . . -0.6654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.02 . 0.022 0.014 . . . . . . . . . . . . ENST00000416067 0.109 0.109 . . B7WNX9 . . . . . . . . . 0 0 0 0 0 . 0 0 0 0.0021 0.0009 0.0046 0 0.0068 0 0 0 . . . . 0.181 0.181000 . . . . . 1.0E-174 . . . . . . . . . 0.181 . 0.022 . . . . 1 1538 10 1/0 0,119,250 +rs796887795 21 9909317 T A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution intron GRCh37 9909317 9909317 Chr21(GRCh37):g.9909317T>A 138-40 138-40 NR_038327.1:n.138-40A>T p.? p.? 3 2 -40 3' 75.1598 9.00547 0.368498 13.5167 75.1598 9.00547 0.368498 13.744 0 rs796887795 no no 0 0.000000 0 0.003734 0.001851 0.003268 0.000000 0.000000 0.000000 0.004434 0.007476 0.000000 0.007476 49 9 1 0 0 0 22 17 0 13122 4862 306 98 252 0 4962 2274 368 0.020408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.058824 0.000000 1 0 0 0 0 0 0 1 0 47 9 1 0 0 0 22 15 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transversion A T A>T 0.000 -1.651 177 PASS . . . . . . . . . . . . . . . . 0.10554804 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 739.0 . . . . . . . . . . 0.0175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0037 0.0033 0 0 0.0075 0.0044 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,140,255 +rs375094206 21 9966401 C T - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution intron GRCh37 9966401 9966401 Chr21(GRCh37):g.9966401C>T 79-21 79-21 NR_038327.1:n.79-21G>A p.? p.? 2 1 -21 3' 85.7153 X.85 0.951849 6.01115 85.7153 X.85 0.960244 VI.09 0.00293989 rs375094206 no no 0 0.000000 0 transition G A G>A 0.000 -0.602 195 PASS . . . . . . . . . . . . . . . . 0.1474359 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . -0.4324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.18 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs375094206 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2723012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs2258247 rs2258247 1 1538 10 1/0 0,211,255 +rs371642257 (chr21:10181174 G/A) 21 10181174 G A Not on a known gene +. (chr21:10205916 C/T) 21 10205916 C T Not on a known gene +. (chr21:10205933 A/T) 21 10205933 A T Not on a known gene +. (chr21:10205942 T/A) 21 10205942 T A Not on a known gene +. (chr21:10205952 G/C) 21 10205952 G C Not on a known gene +. (chr21:10205957 T/C) 21 10205957 T C Not on a known gene +. (chr21:10205968 G/A) 21 10205968 G A Not on a known gene +. (chr21:10205986 C/T) 21 10205986 C T Not on a known gene +. (chr21:10206002 T/A) 21 10206002 T A Not on a known gene +rs796078938 (chr21:10793969 A/G) 21 10793969 A G Not on a known gene +rs199550473 (chr21:10793981 A/G) 21 10793981 A G Not on a known gene +rs373540490 (chr21:10794006 T/C) 21 10794006 T C Not on a known gene +rs377480870 (chr21:10794018 A/G) 21 10794018 A G Not on a known gene +rs28971978 (chr21:10794022 A/G) 21 10794022 A G Not on a known gene +rs28491107 (chr21:10795620 G/T) 21 10795620 G T Not on a known gene +rs796650212 (chr21:10795647 G/C) 21 10795647 G C Not on a known gene +rs113143682 21 10969894 A G - TPTE 12023 Transmembrane phosphatase with tensin homology NM_199261.3 -1 2765 1656 NP_954870.2 P56180 substitution intron GRCh37 10969894 10969894 Chr21(GRCh37):g.10969894A>G 119+115 119+115 NM_199261.3:c.119+115T>C p.? p.? 6 6 604336 115 5' 89.5524 9.59704 0.994832 2.86363 89.5524 9.59704 0.994832 2.86363 0 rs113143682 no no 0 0.000000 0 transition T C T>C 0.000 -1.086 201 PASS . . . . . . . . . . . . . . . . 0.16393442 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.5279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.14 182 ENSG00000166157 TPTE TPTE . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113143682 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs113143682 rs113143682 1 1538 10 1/0 0,253,255 +rs598560 21 11020869 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11020869 11020869 Chr21(GRCh37):g.11020869G>A *1326 *1326 NM_182482.2:c.*1326C>T p.? p.? 10 617776 49 3' 93.7948 10.0509 0.826544 4.99404 93.7948 10.0509 0.826544 4.40648 0 rs598560 yes no Frequency 1 0.000000 0 transition C T C>T 0.984 0.528 205 PASS . . . . . . . . . . . . . . . . 0.17391305 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.4491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.71 0.55 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*1326C>T\x3bNM_182481:c.*1326C>T\x3bNM_181704:c.*1421C>T\x3bNM_182484:c.*1421C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs598560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . rs9981999 rs71229211 rs9981999 rs71229211 1 1538 10 1/0 0,255,255 +rs598560 (chr21:11020869 G/A) 21 11020869 G A Transcript NM_182481.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE3 +rs598560 (chr21:11020869 G/A) 21 11020869 G A Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs610070 21 11021125 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11021125 11021125 Chr21(GRCh37):g.11021125C>T *1262 *1262 NM_182482.2:c.*1262G>A p.? p.? 9 617776 -16 5' 74.6218 5.10636 0.51586 0 74.6218 5.10636 0.51586 0 0 Cryptic Acceptor Strongly Activated 11021109 4.26146 0.023543 79.2798 5.24611 0.039776 79.2798 rs610070 yes no Frequency 1 0.000000 0 transition G A G>A 0.969 -0.521 251 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . 0.4343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.71 0.47 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*1262G>A\x3bNM_182481:c.*1262G>A\x3bNM_181704:c.*1357G>A\x3bNM_182484:c.*1357G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs610070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . rs9712674 rs9712674 rs9712674 rs9712674 1 1538 10 1/0 0,255,255 +rs610070 21 11021125 C T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11021125 11021125 Chr21(GRCh37):g.11021125C>T *1262 *1262 NM_182481.1:c.*1262G>A p.? p.? 9 617777 -16 5' 74.6218 5.10636 0.51586 0 74.6218 5.10636 0.51586 0 0 Cryptic Acceptor Strongly Activated 11021109 4.26146 0.023543 79.2798 5.24611 0.039776 79.2798 rs610070 yes no Frequency 1 0.000000 0 transition G A G>A 0.969 -0.521 251 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . 0.4343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.71 0.47 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*1262G>A\x3bNM_182481:c.*1262G>A\x3bNM_181704:c.*1357G>A\x3bNM_182484:c.*1357G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs610070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . rs9712674 rs9712674 rs9712674 rs9712674 1 1538 10 1/0 0,255,255 +rs610070 21 11021125 C T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11021125 11021125 Chr21(GRCh37):g.11021125C>T *1356 *1356 NM_181704.1:c.*1356G>A p.? p.? 8 -16 5' 74.6218 5.10636 0.51586 0 74.6218 5.10636 0.51586 0 0 Cryptic Acceptor Strongly Activated 11021109 4.26146 0.023543 79.2798 5.24611 0.039776 79.2798 rs610070 yes no Frequency 1 0.000000 0 transition G A G>A 0.969 -0.521 251 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . 0.4343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.71 0.47 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*1262G>A\x3bNM_182481:c.*1262G>A\x3bNM_181704:c.*1357G>A\x3bNM_182484:c.*1357G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs610070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . rs9712674 rs9712674 rs9712674 rs9712674 1 1538 10 1/0 0,255,255 +rs738586 21 11038796 T C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038796 11038796 Chr21(GRCh37):g.11038796T>C *870 *870 NM_182482.2:c.*870A>G p.? p.? 6 617776 -69 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs738586 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 2.627 234 PASS . . . . . . . . . . . . . . . . 0.25714287 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 1.1327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.69 0.55 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*870A>G\x3bNM_182481:c.*870A>G\x3bNM_181704:c.*1085A>G\x3bNM_182484:c.*1085A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs738586 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.022 rs738586 rs71227100 rs738586 rs71227100 1 1538 10 1/0 0,255,255 +rs738586 21 11038796 T C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038796 11038796 Chr21(GRCh37):g.11038796T>C *870 *870 NM_182481.1:c.*870A>G p.? p.? 6 617777 -69 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs738586 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 2.627 234 PASS . . . . . . . . . . . . . . . . 0.25714287 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 1.1327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.69 0.55 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*870A>G\x3bNM_182481:c.*870A>G\x3bNM_181704:c.*1085A>G\x3bNM_182484:c.*1085A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs738586 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.022 rs738586 rs71227100 rs738586 rs71227100 1 1538 10 1/0 0,255,255 +rs738586 21 11038796 T C - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038796 11038796 Chr21(GRCh37):g.11038796T>C *1084 *1084 NM_181704.1:c.*1084A>G p.? p.? 6 -69 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs738586 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 2.627 234 PASS . . . . . . . . . . . . . . . . 0.25714287 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 1.1327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.69 0.55 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*870A>G\x3bNM_182481:c.*870A>G\x3bNM_181704:c.*1085A>G\x3bNM_182484:c.*1085A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs738586 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.022 rs738586 rs71227100 rs738586 rs71227100 1 1538 10 1/0 0,255,255 +rs10433076 21 11038843 G C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038843 11038843 Chr21(GRCh37):g.11038843G>C *823 *823 NM_182482.2:c.*823C>G p.? p.? 6 617776 -116 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs10433076 yes no Frequency 1 0.000000 0 transversion C G C>G 0.244 -0.117 239 PASS . . . . . . . . . . . . . . . . 0.2706767 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.3977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*823C>G\x3bNM_182481:c.*823C>G\x3bNM_181704:c.*1038C>G\x3bNM_182484:c.*1038C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10433076 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . 0.022 rs10433076 rs10433076 rs10433076 rs10433076 1 1538 10 1/0 0,229,255 +rs10433076 21 11038843 G C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038843 11038843 Chr21(GRCh37):g.11038843G>C *823 *823 NM_182481.1:c.*823C>G p.? p.? 6 617777 -116 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs10433076 yes no Frequency 1 0.000000 0 transversion C G C>G 0.244 -0.117 239 PASS . . . . . . . . . . . . . . . . 0.2706767 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.3977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*823C>G\x3bNM_182481:c.*823C>G\x3bNM_181704:c.*1038C>G\x3bNM_182484:c.*1038C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10433076 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . 0.022 rs10433076 rs10433076 rs10433076 rs10433076 1 1538 10 1/0 0,229,255 +rs10433076 (chr21:11038843 G/C) 21 11038843 G C Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs599327 21 11038868 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038868 11038868 Chr21(GRCh37):g.11038868C>T *798 *798 NM_182482.2:c.*798G>A p.? p.? 6 617776 -141 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs599327 yes no Frequency 1 0.000000 0 transition G A G>A 0.669 0.367 255 PASS . . . . . . . . . . . . . . . . 0.57831323 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . 0.1729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.79 0.37 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*798G>A\x3bNM_182481:c.*798G>A\x3bNM_181704:c.*1013G>A\x3bNM_182484:c.*1013G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs599327 0.076 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.076 rs599327 rs599327 rs599327 rs599327 1 1538 10 1/0 0,235,236 +rs599327 (chr21:11038868 C/T) 21 11038868 C T Transcript NM_182481.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) BAGE3 +rs599327 21 11038868 C T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038868 11038868 Chr21(GRCh37):g.11038868C>T *1012 *1012 NM_181704.1:c.*1012G>A p.? p.? 6 -141 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs599327 yes no Frequency 1 0.000000 0 transition G A G>A 0.669 0.367 255 PASS . . . . . . . . . . . . . . . . 0.57831323 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . 0.1729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.79 0.37 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*798G>A\x3bNM_182481:c.*798G>A\x3bNM_181704:c.*1013G>A\x3bNM_182484:c.*1013G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs599327 0.076 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.076 rs599327 rs599327 rs599327 rs599327 1 1538 10 1/0 0,235,236 +rs12627085 21 11038882 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038882 11038882 Chr21(GRCh37):g.11038882C>T *784 *784 NM_182482.2:c.*784G>A p.? p.? 6 617776 -155 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs12627085 no no 0 0.000000 0 transition G A G>A 0.606 -0.521 252 PASS . . . . . . . . . . . . . . . . 0.31073445 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.76 0.42 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*784G>A\x3bNM_182481:c.*784G>A\x3bNM_181704:c.*999G>A\x3bNM_182484:c.*999G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12627085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs12627085 rs12627085 rs2537263 rs12627085 1 1538 10 1/0 0,219,255 +rs12627085 21 11038882 C T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038882 11038882 Chr21(GRCh37):g.11038882C>T *784 *784 NM_182481.1:c.*784G>A p.? p.? 6 617777 -155 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs12627085 no no 0 0.000000 0 transition G A G>A 0.606 -0.521 252 PASS . . . . . . . . . . . . . . . . 0.31073445 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.76 0.42 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*784G>A\x3bNM_182481:c.*784G>A\x3bNM_181704:c.*999G>A\x3bNM_182484:c.*999G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12627085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs12627085 rs12627085 rs2537263 rs12627085 1 1538 10 1/0 0,219,255 +rs12627085 21 11038882 C T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038882 11038882 Chr21(GRCh37):g.11038882C>T *998 *998 NM_181704.1:c.*998G>A p.? p.? 6 -155 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs12627085 no no 0 0.000000 0 transition G A G>A 0.606 -0.521 252 PASS . . . . . . . . . . . . . . . . 0.31073445 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.76 0.42 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*784G>A\x3bNM_182481:c.*784G>A\x3bNM_181704:c.*999G>A\x3bNM_182484:c.*999G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12627085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs12627085 rs12627085 rs2537263 rs12627085 1 1538 10 1/0 0,219,255 +rs28473122 21 11038909 G T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038909 11038909 Chr21(GRCh37):g.11038909G>T *757 *757 NM_182482.2:c.*757C>A p.? p.? 6 617776 -182 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28473122 yes no Frequency 1 0.000000 0 transversion C A C>A 0.827 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.38864627 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 229.0 . . . . . . . . . . 0.3670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.7 0.44 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*757C>A\x3bNM_182481:c.*757C>A\x3bNM_181704:c.*972C>A\x3bNM_182484:c.*972C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28473122 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs28473122 rs28473122 rs28473122 rs28473122 1 1538 10 1/0 0,214,241 +rs28473122 21 11038909 G T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038909 11038909 Chr21(GRCh37):g.11038909G>T *757 *757 NM_182481.1:c.*757C>A p.? p.? 6 617777 -182 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28473122 yes no Frequency 1 0.000000 0 transversion C A C>A 0.827 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.38864627 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 229.0 . . . . . . . . . . 0.3670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.7 0.44 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*757C>A\x3bNM_182481:c.*757C>A\x3bNM_181704:c.*972C>A\x3bNM_182484:c.*972C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28473122 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs28473122 rs28473122 rs28473122 rs28473122 1 1538 10 1/0 0,214,241 +rs28473122 21 11038909 G T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038909 11038909 Chr21(GRCh37):g.11038909G>T *971 *971 NM_181704.1:c.*971C>A p.? p.? 6 -182 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28473122 yes no Frequency 1 0.000000 0 transversion C A C>A 0.827 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.38864627 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 229.0 . . . . . . . . . . 0.3670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.7 0.44 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*757C>A\x3bNM_182481:c.*757C>A\x3bNM_181704:c.*972C>A\x3bNM_182484:c.*972C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28473122 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs28473122 rs28473122 rs28473122 rs28473122 1 1538 10 1/0 0,214,241 +rs1625628 21 11038998 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038998 11038998 Chr21(GRCh37):g.11038998G>A *668 *668 NM_182482.2:c.*668C>T p.? p.? 6 617776 -271 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 Cryptic Acceptor Strongly Activated 11038994 0.777998 0.00012 77.4727 0.877508 0.0002 77.4727 rs1625628 no no 0 0.000000 0 transition C T C>T 0.740 1.174 211 PASS . . . . . . . . . . . . . . . . 0.18656716 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 268.0 . . . . . . . . . . 0.3757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.48 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*668C>T\x3bNM_182481:c.*668C>T\x3bNM_181704:c.*883C>T\x3bNM_182484:c.*883C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs1625628 rs1625628 rs1625628 rs1625628 1 1538 10 1/0 0,192,255 +rs1625628 21 11038998 G A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038998 11038998 Chr21(GRCh37):g.11038998G>A *668 *668 NM_182481.1:c.*668C>T p.? p.? 6 617777 -271 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 Cryptic Acceptor Strongly Activated 11038994 0.777998 0.00012 77.4727 0.877508 0.0002 77.4727 rs1625628 no no 0 0.000000 0 transition C T C>T 0.740 1.174 211 PASS . . . . . . . . . . . . . . . . 0.18656716 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 268.0 . . . . . . . . . . 0.3757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.48 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*668C>T\x3bNM_182481:c.*668C>T\x3bNM_181704:c.*883C>T\x3bNM_182484:c.*883C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs1625628 rs1625628 rs1625628 rs1625628 1 1538 10 1/0 0,192,255 +rs1625628 21 11038998 G A - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038998 11038998 Chr21(GRCh37):g.11038998G>A *882 *882 NM_181704.1:c.*882C>T p.? p.? 6 -271 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 Cryptic Acceptor Strongly Activated 11038994 0.777998 0.00012 77.4727 0.877508 0.0002 77.4727 rs1625628 no no 0 0.000000 0 transition C T C>T 0.740 1.174 211 PASS . . . . . . . . . . . . . . . . 0.18656716 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 268.0 . . . . . . . . . . 0.3757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.48 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*668C>T\x3bNM_182481:c.*668C>T\x3bNM_181704:c.*883C>T\x3bNM_182484:c.*883C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs1625628 rs1625628 rs1625628 rs1625628 1 1538 10 1/0 0,192,255 +rs28369127 21 11039033 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11039033 11039033 Chr21(GRCh37):g.11039033G>A *633 *633 NM_182482.2:c.*633C>T p.? p.? 6 617776 -306 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28369127 no no 0 0.000000 0 transition C T C>T 0.591 0.609 176 PASS . . . . . . . . . . . . . . . . 0.10569106 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . 0.5886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*633C>T\x3bNM_182481:c.*633C>T\x3bNM_181704:c.*848C>T\x3bNM_182484:c.*848C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs28369127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs28369127 rs28369127 rs28369127 rs28369127 1 1538 10 1/0 0,188,255 +rs28369127 21 11039033 G A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11039033 11039033 Chr21(GRCh37):g.11039033G>A *633 *633 NM_182481.1:c.*633C>T p.? p.? 6 617777 -306 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28369127 no no 0 0.000000 0 transition C T C>T 0.591 0.609 176 PASS . . . . . . . . . . . . . . . . 0.10569106 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . 0.5886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*633C>T\x3bNM_182481:c.*633C>T\x3bNM_181704:c.*848C>T\x3bNM_182484:c.*848C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs28369127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs28369127 rs28369127 rs28369127 rs28369127 1 1538 10 1/0 0,188,255 +rs28369127 21 11039033 G A - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11039033 11039033 Chr21(GRCh37):g.11039033G>A *847 *847 NM_181704.1:c.*847C>T p.? p.? 6 -306 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28369127 no no 0 0.000000 0 transition C T C>T 0.591 0.609 176 PASS . . . . . . . . . . . . . . . . 0.10569106 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . 0.5886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*633C>T\x3bNM_182481:c.*633C>T\x3bNM_181704:c.*848C>T\x3bNM_182484:c.*848C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs28369127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs28369127 rs28369127 rs28369127 rs28369127 1 1538 10 1/0 0,188,255 +rs1625833 21 11039072 G T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11039072 11039072 Chr21(GRCh37):g.11039072G>T *594 *594 NM_182482.2:c.*594C>A p.? p.? 6 617776 -345 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs1625833 no no 0 0.000000 0 transversion C A C>A 0.937 2.707 216 PASS . . . . . . . . . . . . . . . . 0.20083682 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 239.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.64 0.45 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*594C>A\x3bNM_182481:c.*594C>A\x3bNM_181704:c.*809C>A\x3bNM_182484:c.*809C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs1625833 rs1625833 rs1625833 rs1625833 1 1538 10 1/0 0,198,255 +rs1625833 21 11039072 G T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11039072 11039072 Chr21(GRCh37):g.11039072G>T *594 *594 NM_182481.1:c.*594C>A p.? p.? 6 617777 -345 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs1625833 no no 0 0.000000 0 transversion C A C>A 0.937 2.707 216 PASS . . . . . . . . . . . . . . . . 0.20083682 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 239.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.64 0.45 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*594C>A\x3bNM_182481:c.*594C>A\x3bNM_181704:c.*809C>A\x3bNM_182484:c.*809C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs1625833 rs1625833 rs1625833 rs1625833 1 1538 10 1/0 0,198,255 +rs1625833 21 11039072 G T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11039072 11039072 Chr21(GRCh37):g.11039072G>T *808 *808 NM_181704.1:c.*808C>A p.? p.? 6 -345 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs1625833 no no 0 0.000000 0 transversion C A C>A 0.937 2.707 216 PASS . . . . . . . . . . . . . . . . 0.20083682 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 239.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.64 0.45 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*594C>A\x3bNM_182481:c.*594C>A\x3bNM_181704:c.*809C>A\x3bNM_182484:c.*809C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs1625833 rs1625833 rs1625833 rs1625833 1 1538 10 1/0 0,198,255 +rs3915340 21 11039344 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11039344 11039344 Chr21(GRCh37):g.11039344G>A *322 *322 NM_182482.2:c.*322C>T p.? p.? 6 617776 86 3' 69.8299 2.03295 0.003733 0 69.8299 2.03295 0.003733 0 0 rs3915340 yes no Frequency 1 0.000000 0 transition C T C>T 0.016 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.2722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.67 0.35 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*322C>T\x3bNM_182481:c.*322C>T\x3bNM_181704:c.*537C>T\x3bNM_182484:c.*537C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3915340 0.043 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs3915340 rs3915340 rs3915340 rs3915340 1 1538 10 1/0 0,239,255 +rs3915340 21 11039344 G A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11039344 11039344 Chr21(GRCh37):g.11039344G>A *322 *322 NM_182481.1:c.*322C>T p.? p.? 6 617777 86 3' 69.8299 2.03295 0.003733 0 69.8299 2.03295 0.003733 0 0 rs3915340 yes no Frequency 1 0.000000 0 transition C T C>T 0.016 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.2722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.67 0.35 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*322C>T\x3bNM_182481:c.*322C>T\x3bNM_181704:c.*537C>T\x3bNM_182484:c.*537C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3915340 0.043 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs3915340 rs3915340 rs3915340 rs3915340 1 1538 10 1/0 0,239,255 +rs3915340 (chr21:11039344 G/A) 21 11039344 G A Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs7280925 21 11049503 T A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11049503 11049503 Chr21(GRCh37):g.11049503T>A *68 *68 NM_182482.2:c.*68A>T p.? p.? 4 617776 -54 5' 87.864 10.0774 0.993135 4.71375 87.864 10.0774 0.993135 4.41048 0 Cryptic Acceptor Strongly Activated 11049489 2.08264 0.055797 73.8997 4.0839 0.232133 79.3002 rs7280925 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.937 -0.037 219 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . 0.9143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.57 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*68A>T\x3bNM_182481:c.*68A>T\x3bNM_181704:c.*283A>T\x3bNM_182484:c.*283A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7280925 0.359 0.377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . 0.36 rs7280925 rs7280925 rs7280925 rs7280925 1 1538 10 1/0 0,225,255 +rs7280925 21 11049503 T A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11049503 11049503 Chr21(GRCh37):g.11049503T>A *68 *68 NM_182481.1:c.*68A>T p.? p.? 4 617777 -54 5' 87.864 10.0774 0.993135 4.11647 87.864 10.0774 0.993135 3.81319 0 Cryptic Acceptor Strongly Activated 11049489 2.08264 0.055797 73.8997 4.0839 0.232133 79.3002 rs7280925 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.937 -0.037 219 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . 0.9143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.57 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*68A>T\x3bNM_182481:c.*68A>T\x3bNM_181704:c.*283A>T\x3bNM_182484:c.*283A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7280925 0.359 0.377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . 0.36 rs7280925 rs7280925 rs7280925 rs7280925 1 1538 10 1/0 0,225,255 +rs7280925 21 11049503 T A - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11049503 11049503 Chr21(GRCh37):g.11049503T>A *282 *282 NM_181704.1:c.*282A>T p.? p.? 4 -54 5' 87.864 10.0774 0.993135 4.11647 87.864 10.0774 0.993135 3.81319 0 Cryptic Acceptor Strongly Activated 11049489 2.08264 0.055797 73.8997 4.0839 0.232133 79.3002 rs7280925 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.937 -0.037 219 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . 0.9143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.57 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*68A>T\x3bNM_182481:c.*68A>T\x3bNM_181704:c.*283A>T\x3bNM_182484:c.*283A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7280925 0.359 0.377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . 0.36 rs7280925 rs7280925 rs7280925 rs7280925 1 1538 10 1/0 0,225,255 +rs468629 21 11049516 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11049516 11049516 Chr21(GRCh37):g.11049516G>A *55 *55 NM_182482.2:c.*55C>T p.? p.? 4 617776 -67 5' 87.864 10.0774 0.993135 4.71375 87.864 10.0774 0.993135 4.11647 0 rs468629 yes no Frequency/1000G 2 A 0.000000 0 0.811502 0.641500 0.867100 0.770800 0.954300 0.909200 transition C T C>T 1.000 1.497 111 PASS . . . . . 0.64 0.81 0.91 0.77 0.95 0.87 . . . . . 1.0 . . @ 135 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 1.0191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . 0.1853 . . . 0.73 0.59 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*55C>T\x3bNM_182481:c.*55C>T\x3bNM_181704:c.*270C>T\x3bNM_182484:c.*270C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs468629 0.880 0.884 . . . . . . . . . . . . . . . . . . . . . . . . . . II.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.88 rs468629 rs468629 rs468629 rs468629 1 1538 255 1.I 0,0,255 +rs468629 (chr21:11049516 G/A) 21 11049516 G A Transcript NM_182481.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE3 +rs468629 (chr21:11049516 G/A) 21 11049516 G A Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +. 21 11058261 C CT - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 duplication frameshift exon GRCh37 11058261 11058262 Chr21(GRCh37):g.11058262dup 178 178 NM_182482.2:c.178dup p.Arg60Lysfs*131 p.Arg60Lysfs*131 3 617776 62 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.43373 0 rs541080822 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.000447 0.000042 0.000299 0.000723 0.000000 0.000132 0.000636 0.000650 0.000806 0.000723 120 1 10 7 0 4 77 16 5 268182 23930 33496 9684 18870 30374 121006 24620 6202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 10 7 0 4 77 16 5 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes A 255 Pass . . . . . 0.0008 0.0014 0.0029 . 0.004 . . BAGE3:uc002yit.1:exon3:c.178dupA:p.R60fs . . . 0.10204082 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 147 . . . 0.0084 0.031 0.043 . . . . . . . . . . . . . 9.226e-03 . . . 0.0023 0.0082 0.0040 0 0.0065 0.0132 0.0099 0.0053 0.0025 0.0073 0.0038 0 0.0073 0.0105 0.0087 0.0053 . frameshift_insertion frameshift_insertion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000187172 BAGE3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs541080822 . . . . . . . . . . . . . . . . . . . . . . . 0.031230 . . . . . 6.57e-05 0.0005 0.0003 0.0007 0 0.0008 0.0007 0.0010 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,4,99 +. 21 11058261 C CT - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 duplication frameshift exon GRCh37 11058261 11058262 Chr21(GRCh37):g.11058262dup 178 178 NM_182481.1:c.178dup p.Arg60Lysfs*131 p.Arg60Lysfs*131 3 617777 62 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.43373 0 rs541080822 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.000447 0.000042 0.000299 0.000723 0.000000 0.000132 0.000636 0.000650 0.000806 0.000723 120 1 10 7 0 4 77 16 5 268182 23930 33496 9684 18870 30374 121006 24620 6202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 10 7 0 4 77 16 5 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes A 255 Pass . . . . . 0.0008 0.0014 0.0029 . 0.004 . . BAGE3:uc002yit.1:exon3:c.178dupA:p.R60fs . . . 0.10204082 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 147 . . . 0.0084 0.031 0.043 . . . . . . . . . . . . . 9.226e-03 . . . 0.0023 0.0082 0.0040 0 0.0065 0.0132 0.0099 0.0053 0.0025 0.0073 0.0038 0 0.0073 0.0105 0.0087 0.0053 . frameshift_insertion frameshift_insertion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000187172 BAGE3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs541080822 . . . . . . . . . . . . . . . . . . . . . . . 0.031230 . . . . . 6.57e-05 0.0005 0.0003 0.0007 0 0.0008 0.0007 0.0010 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,4,99 +. 21 11058261 C CT - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 duplication 3'UTR GRCh37 11058261 11058262 Chr21(GRCh37):g.11058262dup *62 *62 NM_181704.1:c.*62dup p.? p.? 3 62 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.43373 0 rs541080822 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.000447 0.000042 0.000299 0.000723 0.000000 0.000132 0.000636 0.000650 0.000806 0.000723 120 1 10 7 0 4 77 16 5 268182 23930 33496 9684 18870 30374 121006 24620 6202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 10 7 0 4 77 16 5 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes A 255 Pass . . . . . 0.0008 0.0014 0.0029 . 0.004 . . BAGE3:uc002yit.1:exon3:c.178dupA:p.R60fs . . . 0.10204082 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 147 . . . 0.0084 0.031 0.043 . . . . . . . . . . . . . 9.226e-03 . . . 0.0023 0.0082 0.0040 0 0.0065 0.0132 0.0099 0.0053 0.0025 0.0073 0.0038 0 0.0073 0.0105 0.0087 0.0053 . frameshift_insertion frameshift_insertion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000187172 BAGE3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs541080822 . . . . . . . . . . . . . . . . . . . . . . . 0.031230 . . . . . 6.57e-05 0.0005 0.0003 0.0007 0 0.0008 0.0007 0.0010 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,4,99 +rs7364059 21 11059877 T C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution intron GRCh37 11059877 11059877 Chr21(GRCh37):g.11059877T>C 117-1554 117-1554 NM_182482.2:c.117-1554A>G p.? p.? 3 2 617776 -1554 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs7364059 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 -2.054 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.8266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7364059 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.033 rs7364059 rs7364059 rs7364059 rs7364059 1 1538 255 1.I 0,0,255 +rs7364059 21 11059877 T C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution intron GRCh37 11059877 11059877 Chr21(GRCh37):g.11059877T>C 117-1554 117-1554 NM_182481.1:c.117-1554A>G p.? p.? 3 2 617777 -1554 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs7364059 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 -2.054 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.8266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7364059 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.033 rs7364059 rs7364059 rs7364059 rs7364059 1 1538 255 1.I 0,0,255 +rs7364059 21 11059877 T C - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution intron GRCh37 11059877 11059877 Chr21(GRCh37):g.11059877T>C *1-1554 *1-1554 NM_181704.1:c.*1-1554A>G p.? p.? 3 2 -1554 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs7364059 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 -2.054 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.8266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7364059 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.033 rs7364059 rs7364059 rs7364059 rs7364059 1 1538 255 1.I 0,0,255 +rs75112368 21 11059951 T C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution intron GRCh37 11059951 11059951 Chr21(GRCh37):g.11059951T>C 117-1628 117-1628 NM_182482.2:c.117-1628A>G p.? p.? 3 2 617776 -1628 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs75112368 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.43 0.29 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75112368 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs75112368 rs75112368 1 1538 10 1/0 0,255,255 +rs75112368 21 11059951 T C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution intron GRCh37 11059951 11059951 Chr21(GRCh37):g.11059951T>C 117-1628 117-1628 NM_182481.1:c.117-1628A>G p.? p.? 3 2 617777 -1628 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs75112368 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.43 0.29 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75112368 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs75112368 rs75112368 1 1538 10 1/0 0,255,255 +rs75112368 21 11059951 T C - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution intron GRCh37 11059951 11059951 Chr21(GRCh37):g.11059951T>C *1-1628 *1-1628 NM_181704.1:c.*1-1628A>G p.? p.? 3 2 -1628 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs75112368 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.43 0.29 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75112368 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs75112368 rs75112368 1 1538 10 1/0 0,255,255 +. 21 11098676 CTCCTACCACTCCAGCCGCCA C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 deletion intron GRCh37 11098677 11098696 Chr21(GRCh37):g.11098677_11098696del 15+7 15+26 NM_182482.2:c.15+7_15+26del p.? p.? 1 1 617776 7 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.942954 4.16941 0.00751345 rs796070313 no no 0 0.000000 0 TGGCGGCTGGAGTGGTAGGA 255 Pass . . . . . . . . . . . . . . . . 0.10655738 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,97 +. 21 11098676 CTCCTACCACTCCAGCCGCCA C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 deletion intron GRCh37 11098677 11098696 Chr21(GRCh37):g.11098677_11098696del 15+7 15+26 NM_182481.1:c.15+7_15+26del p.? p.? 1 1 617777 7 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.942954 4.16941 0.00751345 rs796070313 no no 0 0.000000 0 TGGCGGCTGGAGTGGTAGGA 255 Pass . . . . . . . . . . . . . . . . 0.10655738 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,97 +. 21 11098676 CTCCTACCACTCCAGCCGCCA C - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 deletion intron GRCh37 11098677 11098696 Chr21(GRCh37):g.11098677_11098696del 15+27 15+46 NM_181704.1:c.15+27_15+46del p.? p.? 1 1 27 5' 82.7022 9.63249 0.966403 5.88111 82.7022 9.63249 0.966403 5.89052 0 rs796070313 no no 0 0.000000 0 TGGCGGCTGGAGTGGTAGGA 255 Pass . . . . . . . . . . . . . . . . 0.10655738 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,97 +rs73891536 21 11098732 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 5'UTR GRCh37 11098732 11098732 Chr21(GRCh37):g.11098732C>T -15 -15 NM_182482.2:c.-15G>A p.? p.? 1 617776 -30 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 V.99 0 rs73891536 yes no Frequency 1 0.000000 0 0.000084 0.000125 0.000000 0.000000 0.000053 0.000456 0.000032 0.000000 0.000155 0.000456 23 3 0 0 1 14 4 0 1 274572 24024 34410 10144 18866 30720 124256 25714 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 3 0 0 1 14 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.004 0.125 209 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 165.0 . . . . . . . . . . -0.0409 . . . . . . . . 2.459e-04 . . . 0.0001 0.0003 0 0.0002 0 7.123e-05 0 0.0013 0.0001 0.0003 0 0.0001 0 0.0001 0 0.0013 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.57 0.41 182 ENSG00000187172 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73891536 . . CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000072781.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.21e-05 0 0 5.799e-05 0 3.662e-05 0.0002 0.0005 0.0003 9.684e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . rs73891536 rs73891536 rs73891536 1 1538 10 1/0 0,212,255 +rs73891536 21 11098732 C T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 5'UTR GRCh37 11098732 11098732 Chr21(GRCh37):g.11098732C>T -15 -15 NM_182481.1:c.-15G>A p.? p.? 1 617777 -30 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 V.99 0 rs73891536 yes no Frequency 1 0.000000 0 0.000084 0.000125 0.000000 0.000000 0.000053 0.000456 0.000032 0.000000 0.000155 0.000456 23 3 0 0 1 14 4 0 1 274572 24024 34410 10144 18866 30720 124256 25714 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 3 0 0 1 14 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.004 0.125 209 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 165.0 . . . . . . . . . . -0.0409 . . . . . . . . 2.459e-04 . . . 0.0001 0.0003 0 0.0002 0 7.123e-05 0 0.0013 0.0001 0.0003 0 0.0001 0 0.0001 0 0.0013 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.57 0.41 182 ENSG00000187172 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73891536 . . CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000072781.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.21e-05 0 0 5.799e-05 0 3.662e-05 0.0002 0.0005 0.0003 9.684e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . rs73891536 rs73891536 rs73891536 1 1538 10 1/0 0,212,255 +rs73891536 (chr21:11098732 C/T) 21 11098732 C T Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs76612892 21 11098756 C A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 5'UTR GRCh37 11098756 11098756 Chr21(GRCh37):g.11098756C>A -39 -39 NM_182482.2:c.-39G>T p.? p.? 1 617776 -54 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 5.1211 0 rs76612892 yes no Frequency 1 0.000000 0 0.000011 0.000000 0.000029 0.000000 0.000000 0.000032 0.000000 0.000000 0.000155 0.000032 3 0 1 0 0 1 0 0 1 274448 23996 34420 10146 18868 30782 124244 25558 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.004 0.125 218 PASS . . . . . . . . . . . . . . . . 0.20779221 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.0127 . . . . . . . . 3.171e-05 . . . 0 3.332e-05 8.648e-05 0 0 2.375e-05 0 6.061e-05 0 3.79e-05 8.917e-05 0 0 3.681e-05 0 6.095e-05 . . . . . . ncRNA_exonic UTR5 UTR5 . . . @ . . . 0.58 0.4 182 ENSG00000187172 . . . . NM_001187:c.-19G>T\x3bNM_182482:c.-39G>T\x3bNM_182481:c.-39G>T\x3bNM_181704:c.-19G>T\x3bNM_182484:c.-19G>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76612892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.214e-06 2.978e-05 0 0 0 0 0 3.249e-05 0 3.23e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs76612892 rs76612892 1 1538 10 1/0 0,218,255 +rs76612892 21 11098756 C A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 5'UTR GRCh37 11098756 11098756 Chr21(GRCh37):g.11098756C>A -39 -39 NM_182481.1:c.-39G>T p.? p.? 1 617777 -54 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 5.1211 0 rs76612892 yes no Frequency 1 0.000000 0 0.000011 0.000000 0.000029 0.000000 0.000000 0.000032 0.000000 0.000000 0.000155 0.000032 3 0 1 0 0 1 0 0 1 274448 23996 34420 10146 18868 30782 124244 25558 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.004 0.125 218 PASS . . . . . . . . . . . . . . . . 0.20779221 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.0127 . . . . . . . . 3.171e-05 . . . 0 3.332e-05 8.648e-05 0 0 2.375e-05 0 6.061e-05 0 3.79e-05 8.917e-05 0 0 3.681e-05 0 6.095e-05 . . . . . . ncRNA_exonic UTR5 UTR5 . . . @ . . . 0.58 0.4 182 ENSG00000187172 . . . . NM_001187:c.-19G>T\x3bNM_182482:c.-39G>T\x3bNM_182481:c.-39G>T\x3bNM_181704:c.-19G>T\x3bNM_182484:c.-19G>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76612892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.214e-06 2.978e-05 0 0 0 0 0 3.249e-05 0 3.23e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs76612892 rs76612892 1 1538 10 1/0 0,218,255 +rs76612892 (chr21:11098756 C/A) 21 11098756 C A Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs73891538 21 11098763 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 5'UTR GRCh37 11098763 11098763 Chr21(GRCh37):g.11098763C>T -46 -46 NM_182482.2:c.-46G>A p.? p.? 1 617776 -61 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 5.05726 0 rs73891538 yes no Frequency 1 0.000000 0 0.000029 0.000000 0.000087 0.000000 0.000000 0.000097 0.000016 0.000000 0.000000 0.000097 8 0 3 0 0 3 2 0 0 274058 23924 34410 10136 18866 30780 124174 25338 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.016 -1.812 236 PASS . . . . . . . . . . . . . . . . 0.26174498 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.3221 . . . . . . . . 4.756e-05 . . . 0 5.556e-05 8.649e-05 0 0 2.375e-05 0 0.0002 0 5.686e-05 8.919e-05 0 0 3.682e-05 0 0.0002 . . . . . . ncRNA_exonic UTR5 UTR5 . . . @ . . . 0.56 0.39 182 ENSG00000187172 . . . . NM_001187:c.-26G>A\x3bNM_182482:c.-46G>A\x3bNM_182481:c.-46G>A\x3bNM_181704:c.-26G>A\x3bNM_182484:c.-26G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73891538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.289e-05 8.935e-05 0 0 0 1.831e-05 0 9.747e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . rs73891538 rs73891538 rs73891538 1 1538 10 1/0 0,224,255 +rs73891538 21 11098763 C T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 5'UTR GRCh37 11098763 11098763 Chr21(GRCh37):g.11098763C>T -46 -46 NM_182481.1:c.-46G>A p.? p.? 1 617777 -61 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 5.05726 0 rs73891538 yes no Frequency 1 0.000000 0 0.000029 0.000000 0.000087 0.000000 0.000000 0.000097 0.000016 0.000000 0.000000 0.000097 8 0 3 0 0 3 2 0 0 274058 23924 34410 10136 18866 30780 124174 25338 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.016 -1.812 236 PASS . . . . . . . . . . . . . . . . 0.26174498 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.3221 . . . . . . . . 4.756e-05 . . . 0 5.556e-05 8.649e-05 0 0 2.375e-05 0 0.0002 0 5.686e-05 8.919e-05 0 0 3.682e-05 0 0.0002 . . . . . . ncRNA_exonic UTR5 UTR5 . . . @ . . . 0.56 0.39 182 ENSG00000187172 . . . . NM_001187:c.-26G>A\x3bNM_182482:c.-46G>A\x3bNM_182481:c.-46G>A\x3bNM_181704:c.-26G>A\x3bNM_182484:c.-26G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73891538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.289e-05 8.935e-05 0 0 0 1.831e-05 0 9.747e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . rs73891538 rs73891538 rs73891538 1 1538 10 1/0 0,224,255 +rs73891538 (chr21:11098763 C/T) 21 11098763 C T Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs200541045 21 14424099 A T - ANKRD30BP2 16620 Ankyrin repeat domain 30B pseudogene 2 NR_026916.1 1 3419 0 substitution intron GRCh37 14424099 14424099 Chr21(GRCh37):g.14424099A>T 722-18 722-18 NR_026916.1:n.722-18A>T p.? p.? 6 5 -18 3' 82.3439 4.99502 0.082617 3.0677 82.3439 7.23722 0.140816 5.88682 0.384443 Cryptic Acceptor Strongly Activated 14424117 4.99502 0.082617 82.3439 7.23722 0.140816 82.3439 rs200541045 no no 0 A 0.000000 0 0.000514 0.001921 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001921 15 15 0 0 0 0 0 0 0 29156 7810 788 298 1556 0 14614 3170 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 15 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 71 Genomes transversion A T A>T 0.063 0.367 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||ANKRD30BP2|Non-coding_transcript|NON_CODING|NR_026916|) . . . . . . . -0.3137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.33 0.12 182 ENSG00000224309 ANKRD30BP2 ANKRD30BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200541045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0005 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs200541045 rs200541045 1 1538 10 1/0 0,251,255 +rs183142354 (chr21:14745472 C/T) 21 14745472 C T Not on a known gene +rs796875438 (chr21:14745502 A/G) 21 14745502 A G Not on a known gene +rs78104043 21 14771325 C T - ANKRD30BP1 19722 Ankyrin repeat domain 30B pseudogene 1 ENST00000451052.1 -1 2186 0 substitution exon GRCh37 14771325 14771325 Chr21(GRCh37):g.14771325C>T 670 670 ENST00000451052.1:n.670G>A 12 28 3' 73.2898 4.50924 0.441432 0 73.2898 4.50924 0.441432 0 0 rs78104043 yes no Frequency/1000G 2 C 0.000000 0 0.298123 0.083200 0.272000 0.428600 0.344900 0.487000 transition G A G>A 0.000 -0.198 255 PASS . . . . . 0.083 0.3 0.49 0.43 0.34 0.27 . . . . . 0.5652174 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . 0.2981 . . . 0.32 0.29 182 ENSG00000175302 . . . dist\x3d280754\x3bdist\x3d7380 dist\x3d280754\x3bdist\x3d7380 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs78104043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78104043 rs78104043 1 1538 10 1/0 0,255,255 +rs79003645 21 14771326 T G - ANKRD30BP1 19722 Ankyrin repeat domain 30B pseudogene 1 ENST00000451052.1 -1 2186 0 substitution exon GRCh37 14771326 14771326 Chr21(GRCh37):g.14771326T>G 669 669 ENST00000451052.1:n.669A>C 12 27 3' 73.2898 4.50924 0.441432 0 73.2898 4.50924 0.441432 0 0 rs79003645 yes no Frequency/1000G 2 T 0.000000 0 0.298323 0.083200 0.273000 0.428600 0.344900 0.487000 transversion A C A>C 0.000 -0.682 255 PASS . . . . . 0.083 0.3 0.49 0.43 0.34 0.27 . . . . . 0.5416667 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 24.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . 0.2983 . . . 0.31 0.32 182 ENSG00000175302 . . . dist\x3d280755\x3bdist\x3d7379 dist\x3d280755\x3bdist\x3d7379 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs79003645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79003645 rs79003645 1 1538 10 1/0 0,255,255 +rs77453818 21 14771327 T C - ANKRD30BP1 19722 Ankyrin repeat domain 30B pseudogene 1 ENST00000451052.1 -1 2186 0 substitution exon GRCh37 14771327 14771327 Chr21(GRCh37):g.14771327T>C 668 668 ENST00000451052.1:n.668A>G 12 26 3' 73.2898 4.50924 0.441432 0 73.2898 4.50924 0.441432 0 0 rs77453818 yes no Frequency/1000G 2 T 0.000000 0 0.298323 0.083200 0.273000 0.428600 0.344900 0.487000 transition A G A>G 0.000 0.044 255 PASS . . . . . 0.083 0.3 0.49 0.43 0.34 0.27 . . . . . 0.5 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 24.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . 0.2983 . . . 0.32 0.39 182 ENSG00000175302 . . . dist\x3d280756\x3bdist\x3d7378 dist\x3d280756\x3bdist\x3d7378 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs77453818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77453818 rs77453818 1 1538 10 1/0 0,255,255 +rs56121372 21 14987811 C T - POTED 23822 POTE ankyrin domain family, member D NM_174981.3 1 1826 1755 NP_778146.2 Q86YR6 substitution missense exon GRCh37 14987811 14987811 Chr21(GRCh37):g.14987811C>T 730 730 NM_174981.3:c.730C>T p.His244Tyr p.His244Tyr 3 607549 -81 5' 72.3493 7.98261 0.889381 1.37514 72.3493 7.98261 0.889381 1.37514 0 Ankyrin repeat Ankyrin repeat-containing domain rs56121372 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3773995 Kidney 0.000578 1729 transition C T C>T 0.992 1.981 H His CAC 0.587 Y Tyr TAC 0.562 244 12 11 Ciona intestinalis 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C25 40.79 83.33 Deleterious 0.01 II.69 bad 7.095E-3 0.002425 255 PASS . . . . . . . . . . . ENSG00000166351:ENST00000299443:exon3:c.C730T:p.H244Y POTED:uc002yjb.1:exon3:c.C730T:p.H244Y POTED:NM_174981:exon3:c.C730T:p.H244Y . . 0.8947368 . . @ 68 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.519 . @ . . . . . 1 0.521 . . 76.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H244Y|POTED|mRNA|CODING|NM_174981|NM_174981.ex.3) . . . . . . . 0.0874 -0.165 0.087 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.791 . . exonic exonic exonic . . 0.213 @ . . . 0.37 0.35 182 ENSG00000166351 POTED POTED . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.497 . . . . T 0.212 0.008 . . 37 . 0.831 . . 0.850 . . . 0.797 0.342 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.826 . . 0 0 0 0 0 0 . 0.561 . . 0.631 . . . . . . 0 0.586 . . . . . 0.199 . 0.669 . HOM 0 rs56121372 . . . . . . . . . . . . VI.68 . ENST00000299443 1.IV 1.IV . 0.020000 Q86YR6 . . . . . 0.340 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.081 1.081000 . . 0.020000 . . 1.0E-255 0.997 0.399 . 0.074 0.019 . 0.629 . 0.278 1.081 0.666 . rs56121372 rs56121372 rs56121372 rs199909497 1 1538 10 1/0 0,255,255 +rs55653693 21 14987871 G T - POTED 23822 POTE ankyrin domain family, member D NM_174981.3 1 1826 1755 NP_778146.2 Q86YR6 substitution missense exon GRCh37 14987871 14987871 Chr21(GRCh37):g.14987871G>T 790 790 NM_174981.3:c.790G>T p.Asp264Tyr p.Asp264Tyr 3 607549 -21 5' 72.3493 7.98261 0.889381 1.37514 72.3493 7.98261 0.889381 0 0 Cryptic Donor Strongly Activated 14987865 0.003954 58.6231 1.14582 0.030891 63.6418 Ankyrin repeat Ankyrin repeat-containing domain rs55653693 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4985115 Soft tissue 0.005515 544 transversion G T G>T 0.220 -0.117 D Asp GAT 0.461 Y Tyr TAT 0.438 264 12 9 Ciona intestinalis -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C25 48.73 113.87 Deleterious 0.01 II.69 good 1.306E-2 0.009284 255 PASS . . . . . . . . . . . ENSG00000166351:ENST00000299443:exon3:c.G790T:p.D264Y POTED:uc002yjb.1:exon3:c.G790T:p.D264Y POTED:NM_174981:exon3:c.G790T:p.D264Y . . 0.73214287 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.450 . @ . . . . . 1 0.313 . . 56.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D264Y|POTED|mRNA|CODING|NM_174981|NM_174981.ex.3) . . . . . . . -0.5724 -0.896 -0.572 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.716 . . exonic exonic exonic . . 0.087 @ . . . 0.33 0.28 182 ENSG00000166351 POTED POTED . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.107 . . . . T 0.212 0.008 . . 37 . 0.710 . . 0.613 . . . 0.842 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.839 . . 0 0 0 0 0 0 . 0.592 . . 0.518 . . . . . . 0 0.784 . . . . . 0.099 . 0.475 . HET 0.01 rs55653693 . . . . . . . . . . . . IV.97 . ENST00000299443 1.IV -1.3 . 0.010000 Q86YR6 . . . . . 0.048 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.361 -0.361000 . . 0.010000 . . 1.0E-255 0.002 0.151 . 0.043 0.076 . 0.054 . 0.089 -0.361 -0.290 . rs55653693 rs55653693 rs55653693 rs200402186 1 1538 10 1/0 0,255,255 +rs4818602 (chr21:15149370 T/A) 21 15149370 T A No Alamut gene - other known genes: TERF1P1 TERF1P1 +rs796171090 21 15343568 A G - ANKRD20A11P 42024 Ankyrin repeat domain 20 family, member A11, pseudogene NR_027270.1 -1 1095 0 substitution intron GRCh37 15343568 15343568 Chr21(GRCh37):g.15343568A>G 743+8455 743+8455 NR_027270.1:n.743+8455T>C p.? p.? 1 1 8455 5' 72.2046 7.37531 0.863557 14.0828 72.2046 7.37531 0.863557 14.0828 0 rs796171090 no no 0 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001048 0.000000 1 0 0 0 0 0 0 0 1 30506 8648 822 292 1600 0 14838 3352 954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition T C T>C 0.154 -0.117 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||ANKRD20A11P|Non-coding_transcript|NON_CODING|NR_027270|) . . . . . . . -0.0139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215559 ANKRD20A11P ANKRD20A11P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.278e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796854677 21 15343599 A G - ANKRD20A11P 42024 Ankyrin repeat domain 20 family, member A11, pseudogene NR_027270.1 -1 1095 0 substitution intron GRCh37 15343599 15343599 Chr21(GRCh37):g.15343599A>G 743+8424 743+8424 NR_027270.1:n.743+8424T>C p.? p.? 1 1 8424 5' 72.2046 7.37531 0.863557 14.0828 72.2046 7.37531 0.863557 14.0828 0 rs796854677 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30468 8582 830 292 1602 0 14838 3370 954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition T C T>C 0.350 0.367 209 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||ANKRD20A11P|Non-coding_transcript|NON_CODING|NR_027270|) . . . . . . . 0.4036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215559 ANKRD20A11P ANKRD20A11P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs111887611 21 15347922 A C - ANKRD20A11P 42024 Ankyrin repeat domain 20 family, member A11, pseudogene NR_027270.1 -1 1095 0 substitution intron GRCh37 15347922 15347922 Chr21(GRCh37):g.15347922A>C 743+4101 743+4101 NR_027270.1:n.743+4101T>G p.? p.? 1 1 4101 5' 72.2046 7.37531 0.863557 14.0828 72.2046 7.37531 0.863557 14.0828 0 Cryptic Donor Strongly Activated 15347922 0.005064 65.5422 5.06568 0.433528 78.1572 rs111887611 no no 0 0.000000 0 transversion T G T>G 0.906 0.528 213 PASS . . . . . . . . . . . . . . . . 0.19417475 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . INTRON(MODIFIER||||ANKRD20A11P|Non-coding_transcript|NON_CODING|NR_027270|) . . . . . . . 0.1986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.28 182 ENSG00000215559 ANKRD20A11P ANKRD20A11P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111887611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs111887611 rs111887611 1 1538 10 1/0 0,233,255 +rs113662770 21 15347997 A G - ANKRD20A11P 42024 Ankyrin repeat domain 20 family, member A11, pseudogene NR_027270.1 -1 1095 0 substitution intron GRCh37 15347997 15347997 Chr21(GRCh37):g.15347997A>G 743+4026 743+4026 NR_027270.1:n.743+4026T>C p.? p.? 1 1 4026 5' 72.2046 7.37531 0.863557 14.0828 72.2046 7.37531 0.863557 14.0828 0 rs113662770 no no 0 0.000000 0 transition T C T>C 0.000 -2.135 212 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||ANKRD20A11P|Non-coding_transcript|NON_CODING|NR_027270|) . . . . . . . -0.3063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.31 182 ENSG00000215559 ANKRD20A11P ANKRD20A11P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113662770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs113662770 rs113662770 1 1538 10 1/0 0,233,255 +rs201729688 (chr21:15440916 T/C) 21 15440916 T C Not on a known gene +rs558557956 (chr21:15440919 T/C) 21 15440919 T C Not on a known gene +. (chr21:15440942 C/T) 21 15440942 C T Not on a known gene +. (chr21:15440949 C/G) 21 15440949 C G Not on a known gene +. (chr21:15440953 C/T) 21 15440953 C T Not on a known gene +rs200830934 (chr21:15440987 G/A) 21 15440987 G A Not on a known gene +rs373908808 (chr21:15440991 T/G) 21 15440991 T G Not on a known gene +rs61755058 21 16338443 G A - NRIP1 8001 Nuclear receptor interacting protein 1 NM_003489.3 -1 7556 3477 NP_003480.2 P48552 substitution missense exon GRCh37 16338443 16338443 Chr21(GRCh37):g.16338443G>A 2071 2071 NM_003489.3:c.2071C>T p.Pro691Ser p.Pro691Ser 4 602490 2405 3' 88.6255 9.14311 0.984716 6.29784 88.6255 9.14311 0.984716 6.29784 0 rs61755058 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.006000 0.000000 0.001685 0.000833 0.001253 0.000099 0.000000 0.000033 0.002967 0.000643 0.001398 0.002967 464 20 43 1 0 1 374 16 9 275432 24014 34306 10132 18832 30762 126044 24902 6440 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 462 20 43 1 0 1 372 16 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4404 12977 27 2 29 0.00313953 0.000453926 0.00222974 0.00313953 0.000453926 0.00222974 88 transition C T C>T 0.000 0.125 P Pro CCA 0.274 S Ser TCA 0.148 691 12 6 Frog -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.55 III.68 good 6.016E-1 0.3882 255 PASS . 0.0023 . . 0.01 0.0008 0.0014 . . 0.006 . . . NRIP1:NM_003489:exon4:c.C2071T:p.P691S . . 0.45238096 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.077 . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P691S|NRIP1|mRNA|CODING|NM_003489|NM_003489.ex.4) 0.0005 0.0022 0.0031 0.0005 0.0022 0.0031 . -1.0778 -1.122 -1.078 c . . . . . 1.729e-03 . . . 0.0013 0.0016 0.0015 0 0.0005 0.0026 0.0014 6.065e-05 0.0010 0.0016 0.0015 0 0.0006 0.0025 0.0029 6.1e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.173 . . exonic exonic exonic . . 0.051 0.0014 . . . 0.4 0.28 182 ENSG00000180530 NRIP1 NRIP1 . . . 1.000 0.428 . 143 0.00220081 64976 136 0.0022672 59986 Uncertain_significance . 0 . 0.256 . . . . T 0.112 0.005 . . 37 . 0.050 . . 0.187 . . . 0.097 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.145 . . . . . . 0 0.178 . . . . . 0.009 . 0.019 . HET 0.34 rs61755058 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 0.756 5.35E-4 . V.69 -3.02 . 0.260000 P48552 . . Name\x3dnsv834048 0.002230 . 0.150 . . . 0.0010 0.0017 0.0013 0.0001 0 0.0007 0.0030 0.0015 3.251e-05 0.0006 0.0016 0.0012 0 0 0.0006 0.0027 0.0010 . . 0.730 . -0.397 -0.397000 . . 0.260000 . . 1.0E-255 0.000 0.063 . 0.104 0.034 . 0.052 . 0.198 -0.397 -0.030 0.01 rs61755058 rs61755058 rs61755058 rs61755058 1 1538 10 1/0 0,255,255 +rs1997607 (chr21:30257568 T/C) 21 30257568 T C Transcript NM_013240.5: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) N6AMT1 +rs147439688 21 33068965 G A - SCAF4 19304 SR-related CTD-associated factor 4 NM_020706.2 -1 4269 3444 NP_065757.1 O95104 substitution synonymous exon GRCh37 33068965 33068965 Chr21(GRCh37):g.33068965G>A 876 876 NM_020706.2:c.876C>T p.Ala292= p.Ala292Ala 8 616023 -84 5' 68.6916 0 0.099926 0 68.6916 0 0.099926 0 0 Cryptic Acceptor Weakly Activated 33068960 1.13056 0.086871 72.7306 1.15799 0.093871 76.2762 rs147439688 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.003100 0.000000 0.003000 0.002900 0.002209 0.000500 0.000668 0.000000 0.000053 0.001202 0.002653 0.007413 0.001856 0.007413 612 12 23 0 1 37 336 191 12 277094 24012 34410 10152 18868 30778 126646 25764 6464 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 610 12 21 0 1 37 336 191 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4403 12984 19 3 22 0.0022093 0.00068089 0.00169153 0.0022093 0.00068089 0.00169153 96 COSM3740275 Liver 0.000422 2371 transition C T C>T 0.000 -1.005 A Ala GCC 0.403 A Ala GCT 0.263 292 255 PASS . 0.0009 . . 0.0026 . 0.0016 0.0029 . 0.003 0.0031 . . . . . 0.41558442 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 77.0 . . . 0.0007 0.0017 0.0022 0.0007 0.0017 0.0022 . 0.1394 . . . . . . . . 2.131e-03 . . . 0.0005 0.0020 0.0007 0 0.0113 0.0023 0.0042 0.0015 0.0004 0.0020 0.0007 0 0.0094 0.0021 0.0058 0.0015 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.31 0.22 182 ENSG00000156304 SCAF4 SCAF4 . . . . . . 176 0.00270869 64976 168 0.00280065 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147439688 . . . . . . . . . . . . . . . . . . . . . . . 0.001692 . . . . . 0.0005 0.0022 0.0007 0 5.798e-05 0.0075 0.0026 0.0018 0.0012 0.0006 0.0026 0 0 0 0.0066 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs147439688 rs147439688 1 1538 10 1/0 0,255,255 +rs145945656 21 34161126 G A - C21orf62 1305 Chromosome 21 open reading frame 62 NM_001162495.2 -1 4121 660 NP_001155967.2 Q9NYP8 substitution downstream GRCh37 34161126 34161126 Chr21(GRCh37):g.34161126G>A *4947 *4947 NM_001162495.2:c.*4947C>T p.? p.? 4 5671 3' 97.2446 XI.33 0.987791 8.25928 97.2446 XI.33 0.987791 8.25928 0 rs145945656 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.004681 0.000687 0.000000 0.000000 0.001852 0.000000 0.005127 0.015482 0.005092 0.015482 145 6 0 0 3 0 77 54 5 30976 8728 838 302 1620 0 15018 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 145 6 0 0 3 0 77 54 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.367 255 PASS . 0.0018 . . 0.01 . 0.0008 . . 0.004 . . . . . . 0.44444445 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.1437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0008 . . . 0.36 0.29 182 ENSG00000205930 C21orf49 C21orf62-AS1 . . . . . . 234 0.00360133 64976 230 0.00383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0047 0 0 0.0019 0.0155 0.0051 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145945656 rs145945656 1 1538 10 1/0 0,255,255 +rs145945656 21 34161126 G A - C21orf62-AS1 1290 C21orf62 antisense RNA 1 NR_024622.1 1 1203 0 substitution intron GRCh37 34161126 34161126 Chr21(GRCh37):g.34161126G>A 434+114 434+114 NR_024622.1:n.434+114G>A p.? p.? 3 3 114 5' 85.2503 8.22968 0.83655 6.40487 85.2503 8.22968 0.83655 6.40487 0 rs145945656 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.004681 0.000687 0.000000 0.000000 0.001852 0.000000 0.005127 0.015482 0.005092 0.015482 145 6 0 0 3 0 77 54 5 30976 8728 838 302 1620 0 15018 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 145 6 0 0 3 0 77 54 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.367 255 PASS . 0.0018 . . 0.01 . 0.0008 . . 0.004 . . . . . . 0.44444445 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.1437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0008 . . . 0.36 0.29 182 ENSG00000205930 C21orf49 C21orf62-AS1 . . . . . . 234 0.00360133 64976 230 0.00383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0047 0 0 0.0019 0.0155 0.0051 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145945656 rs145945656 1 1538 10 1/0 0,255,255 +rs17878639 21 34799217 G A - IFNGR2 5440 Interferon gamma receptor 2 NM_001329128.1 1 2278 1071 NP_001316057.1 substitution missense exon GRCh37 34799217 34799217 Chr21(GRCh37):g.34799217G>A 496 496 NM_001329128.1:c.496G>A p.Glu166Lys p.Glu166Lys 5 147569 27 3' 89.5086 8.59825 0.963833 VII.65 89.5086 8.59825 0.963833 6.86767 0 Cryptic Donor Strongly Activated 34799219 5.56535 0.358428 74.1084 6.77647 0.55775 76.8564 rs17878639 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.000998 0.000000 0.002000 0.000000 0.003000 0.000000 0.001365 0.000209 0.000436 0.000000 0.000053 0.003379 0.001848 0.000466 0.001084 0.003379 378 5 15 0 1 104 234 12 7 276962 23978 34398 10148 18866 30780 126596 25738 6458 0.000029 0.000000 0.000000 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 370 5 15 0 1 96 234 12 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4405 12991 14 1 15 0.00162791 0.000226963 0.00115331 0.00162791 0.000226963 0.00115331 172 transition G A G>A 0.000 -2.216 E Glu GAG 0.583 K Lys AAG 0.575 166 12 5 Olive baboon 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 199.67 0.00 Tolerated 0.84 3.VI 255 PASS . . . . . . 0.001 . . 0.003 0.002 . IFNGR2:uc002yrp.4:exon4:c.G439A:p.E147K IFNGR2:NM_005534:exon4:c.G439A:p.E147K . . 0.33333334 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.026 . . 24.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E147K|IFNGR2|mRNA|CODING|NM_005534|NM_005534.ex.4) 0.0002 0.0012 0.0016 0.0002 0.0012 0.0016 . -1.8530 -1.960 -1.853 c . . . . . 1.563e-03 . . . 0 0.0017 0.0005 0.0002 0.0011 0.0018 0.0028 0.0038 0 0.0015 0.0004 0.0001 0.0008 0.0016 0.0014 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.291 . . exonic exonic exonic . . 0.002 0.0010 . . . 0.45 0.67 182 ENSG00000159128 IFNGR2 IFNGR2 . . . 1.000 0.747 . 81 0.00124661 64976 76 0.00126696 59986 Uncertain_significance . 0 . 0.002 . . . . T 0.146 0.006 . . 37 . 0.132 . . 0.241 . . . 0.351 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.105 . . 0 0 0 0 0 0 . 0.284 . . 0.286 . . . . . . 0 0.024 . . . . . 0.063 . 0.123 . HET 0.96 . . . . . . . . . . . . . III.64 5.35E-4 . V.34 -10.7 . 0.930000 . . . . 0.001153 . 0.055 . . . 6.539e-05 0.0014 0.0004 0 5.798e-05 0.0005 0.0019 0.0011 0.0034 0.0005 0.0010 0.0036 0 0 0.0003 0.0014 0.0010 . . 0.730 . -1.788 -1.788000 . . 0.930000 . . 1.0E-255 0.000 0.063 . 0.100 0.005 . 0.028 . 0.031 -1.788 -0.677 0.0016 rs17878639 rs17878639 rs17878639 rs17878639 1 1538 10 1/0 0,255,255 +rs112072426 21 35286681 G A - ATP5O 850 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit NM_001697.2 -1 806 642 NP_001688.1 P48047 substitution intron GRCh37 35286681 35286681 Chr21(GRCh37):g.35286681G>A 87+73 87+73 NM_001697.2:c.87+73C>T p.? p.? 2 2 600828 73 5' 80.5589 8.33662 0.916624 0 80.5589 8.33662 0.916624 0 0 Cryptic Acceptor Strongly Activated 35286664 2.04163 0.068649 75.2472 2.85062 0.150946 75.2472 rs112072426 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.003100 0.000000 0.006000 0.004300 0.002745 0.001031 0.002387 0.006623 0.000000 0.000000 0.004465 0.000861 0.002041 0.006623 85 9 2 2 0 0 67 3 2 30962 8730 838 302 1620 0 15006 3486 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 9 2 2 0 0 67 3 2 0 0 0 0 0 0 0 0 0 PASS 39 Genomes 3162 1383 4545 20 1 21 0.00628536 0.000722543 0.00459921 0.00628536 0.000722543 0.00459921 64 transition C T C>T 0.000 -0.198 255 PASS . 0.0018 0.0028 . 0.004 . 0.0024 0.0043 . 0.006 0.0031 . . . . . 0.375 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||ATP5O|mRNA|CODING|NM_001697|) 0.0007 0.0046 0.0063 0.0007 0.0046 0.0063 . 0.1812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.37 0.24 182 ENSG00000241837 ATP5O ATP5O . . . . . . 350 0.0053866 64976 338 0.00563465 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112072426 . . . . . . . . . . . . . . . . . . . . . . . 0.004599 . . . . . . . . . . . . . . 0.0010 0.0027 0.0024 0.0066 0 0.0009 0.0045 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0063 . . rs112072426 rs112072426 1 1538 10 1/0 0,255,255 +rs543619564 21 35469289 C T - MRPS6 14051 Mitochondrial ribosomal protein S6 NM_032476.3 1 990 378 NP_115865.1 P82932 substitution intron GRCh37 35469289 35469289 Chr21(GRCh37):g.35469289C>T 45+23244 45+23244 NM_032476.3:c.45+23244C>T p.? p.? 1 1 611973 23244 5' 91.0392 X.88 0.996096 12.1054 91.0392 X.88 0.996096 12.1054 0 rs543619564 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000106 0.000000 0.000358 0.000000 0.000000 0.000000 0.000126 0.000000 0.000000 0.000358 26 0 12 0 0 0 14 0 0 245424 15298 33554 9828 17242 30778 110976 22286 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 0 12 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 75 Exomes transition C T C>T 0.937 0.609 255 PASS . . . . . . 0.0002 0.0014 . . . . . SLC5A3:NM_006933:exon2:c.C1792T:p.L598F . . 0.47560975 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.317 . @ . . . . . 1 0.283 . . 82.0 . . . . . . . . . . -0.4261 -0.204 -0.426 c . . . . . 1.105e-04 . . . 0 0.0001 0.0009 0 0 0 0 0 0 0.0001 0.0009 0 0 7.363e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.865 . . exonic exonic exonic . . 0.346 0.0002 . . . . . . . SLC5A3 SLC5A3 . . . 1.000 0.448 . . . . . . . Uncertain_significance . 0 . 0.106 . . . . D 0.517 0.029 . . 37 . 0.689 . . 0.633 . . . 0.170 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.174 . . 0.112 . . . . . . 1 0.059 . . . . . 0.080 . 0.135 . HET 0.11 rs543619564 . . . . . . . . . . . . III.87 . ENST00000381151 6.VI 3.I . 0.740000 P53794 . . . . . 0.406 . . 3.I 0 0.0001 0.0004 0 0 0 0.0001 0 0 . . . . . . . . . . 0.854 . 1.583 1.583000 . . 0.740000 . . 1.0E-255 0.993 0.376 . 0.381 0.768 . 0.242 . 0.437 1.583 -0.058 . . . . . 1 1538 10 1/0 0,255,255 +rs543619564 21 35469289 C T - SLC5A3 11038 Solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 NM_006933.6 1 11623 2157 NP_008864.4 P53794 substitution missense exon GRCh37 35469289 35469289 Chr21(GRCh37):g.35469289C>T 1792 1792 NM_006933.6:c.1792C>T p.Leu598Phe p.Leu598Phe 2 600444 2128 3' 88.4307 X.37 0.946891 7.97143 88.4307 X.37 0.946891 7.97143 0 rs543619564 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000106 0.000000 0.000358 0.000000 0.000000 0.000000 0.000126 0.000000 0.000000 0.000358 26 0 12 0 0 0 14 0 0 245424 15298 33554 9828 17242 30778 110976 22286 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 0 12 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 75 Exomes transition C T C>T 0.937 0.609 L Leu CTT 0.129 F Phe TTT 0.454 598 12 5 Dolphin 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.24 III.36 255 PASS . . . . . . 0.0002 0.0014 . . . . . SLC5A3:NM_006933:exon2:c.C1792T:p.L598F . . 0.47560975 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.317 . @ . . . . . 1 0.283 . . 82.0 . . . . . . . . . . -0.4261 -0.204 -0.426 c . . . . . 1.105e-04 . . . 0 0.0001 0.0009 0 0 0 0 0 0 0.0001 0.0009 0 0 7.363e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.865 . . exonic exonic exonic . . 0.346 0.0002 . . . . . . . SLC5A3 SLC5A3 . . . 1.000 0.448 . . . . . . . Uncertain_significance . 0 . 0.106 . . . . D 0.517 0.029 . . 37 . 0.689 . . 0.633 . . . 0.170 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.174 . . 0.112 . . . . . . 1 0.059 . . . . . 0.080 . 0.135 . HET 0.11 rs543619564 . . . . . . . . . . . . III.87 . ENST00000381151 6.VI 3.I . 0.740000 P53794 . . . . . 0.406 . . 3.I 0 0.0001 0.0004 0 0 0 0.0001 0 0 . . . . . . . . . . 0.854 . 1.583 1.583000 . . 0.740000 . . 1.0E-255 0.993 0.376 . 0.381 0.768 . 0.242 . 0.437 1.583 -0.058 . . . . . 1 1538 10 1/0 0,255,255 +rs202068364 21 36164622 A C - RUNX1 10471 Runt-related transcription factor 1 NM_001754.4 -1 5967 1443 NP_001745.2 substitution missense exon GRCh37 36164622 36164622 Chr21(GRCh37):g.36164622A>C 1253 1253 NM_001754.4:c.1253T>G p.Met418Arg p.Met418Arg 9 151385 286 3' 77.0002 9.27873 0.888448 XI.51 77.0002 9.27873 0.888448 XI.51 0 New Acceptor Site 36164621 0.144221 0.725555 Runx inhibition Acute myeloid leukemia 1 protein (AML 1)/Runt Transcription factor, Runt-related, RUNX rs202068364 yes no Frequency/1000G 2 A uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000180 0.000206 0.000180 11 0 0 0 0 0 7 3 1 181752 16670 25088 8520 12768 23338 73804 16704 4860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 7 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000456503.1 germline clinical testing VUS 1 Familial platelet disorder with associated myeloid malignancy transversion T G T>G 1.000 4.402 M Met ATG 1.000 R Arg AGG 0.207 418 15 9 Fugu -1 -1 -3 0 0.65 5.VII 10.V 105 124 91 C0 353.86 0.00 Tolerated 0.17 III.55 unknown 0.0 0.0 188 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.13043478 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.486 . @ . . . . . 1 0.425 . . 69.0 . . . . . . . . . . 0.4512 0.511 0.451 c . . . . . 1.033e-04 . . . 0 0.0001 0 0 0.0714 0.0002 0 0 0 0.0003 0 0 0.0357 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.407 . . exonic exonic exonic . . 0.682 0.0002 . . . 0.23 0.34 182 ENSG00000159216 RUNX1 RUNX1 . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.843 . . . . . . . . . 37 . 0.504 . . 0.585 . . . 0.570 0.588 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.808 . . 0 0 0 0 0 0 . 0.475 . . 0.460 . . . . . . 0 0.912 . . . . . 0.672 . 0.887 . LowAF 0 rs202068364 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 14.5012 . . 5.VIII 5.VIII . 0.000000 . . . . . . 0.804 . . 5.VIII 0 5.286e-05 0 0 0 7.534e-05 0.0001 0.0003 0 0 9.87e-05 0 0 0 0.0006 6.822e-05 0 . . 0.495 . 1.908 1.908000 . . 0.000000 . . 1.0E-188 1.000 0.715 . 0.888 1.000 . 0.907 . 0.901 1.908 1.039 0.0013 . . rs202068364 rs202068364 1 1538 10 1/0 0,244,255 +. 21 37518467 CAGA C - CBR3 1549 Carbonyl reductase 3 NM_001236.3 1 1112 834 NP_001227.1 O75828 deletion in-frame exon GRCh37 37518470 37518472 Chr21(GRCh37):g.37518470_37518472del 494 496 NM_001236.3:c.494_496del p.Glu165del p.Glu165del 3 603608 97 3' 93.3257 X.13 0.930825 7.27219 93.3257 X.13 0.930825 7.27219 0 rs560081575 yes no Frequency 1 0.000000 0 0.000177 0.000208 0.000000 0.000099 0.000000 0.000032 0.000308 0.000039 0.000309 0.000308 49 5 0 1 0 1 39 1 2 277216 24026 34416 10152 18870 30782 126714 25788 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 5 0 1 0 1 39 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8250 4254 12504 4 10 14 0.000484614 0.00234522 0.00111839 0.000484614 0.00234522 0.00111839 92 AAG 255 Pass . . . . . . . . . . . ENSG00000159231:ENST00000290354:exon3:c.492_494del:p.164_165del CBR3:uc002yve.3:exon3:c.492_494del:p.164_165del CBR3:NM_001236:exon3:c.492_494del:p.164_165del . . 0.45333335 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 75 . . . 0.0023 0.0011 0.0005 0.0023 0.0011 0.0005 . . . . . . . . . . 1.736e-04 . . . 9.628e-05 0.0002 0 0 0 0.0003 0 6.06e-05 0.0001 0.0002 0 0 0 0.0003 0 6.095e-05 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000159231 CBR3 CBR3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs560081575 . . . . . . . . . . . . . . . . . . . . . . . 0.001118 . . . . . 0.0001 0.0002 0 0.0001 0 4.484e-05 0.0003 0.0004 3.249e-05 0.0003 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0023 . . . . 1 1538 10 1.I 0,12,34 +. 21 37518467 CAGA C - CBR3-AS1 43664 CBR3 antisense RNA 1 NR_038892.1 -1 1575 0 deletion intron GRCh37 37518468 37518470 Chr21(GRCh37):g.37518468_37518470del 192+84 192+86 NR_038892.1:n.192+84_192+86del p.? p.? 2 2 84 5' 95.331 X.37 0.99512 X.65 95.331 X.37 0.99512 X.65 0 New Donor Site 37518471 7.21055 0.895797 74.1084 rs560081575 yes no Frequency 1 0.000000 0 0.000177 0.000208 0.000000 0.000099 0.000000 0.000032 0.000308 0.000039 0.000309 0.000308 49 5 0 1 0 1 39 1 2 277216 24026 34416 10152 18870 30782 126714 25788 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 5 0 1 0 1 39 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8250 4254 12504 4 10 14 0.000484614 0.00234522 0.00111839 0.000484614 0.00234522 0.00111839 92 TCT 255 Pass . . . . . . . . . . . ENSG00000159231:ENST00000290354:exon3:c.492_494del:p.164_165del CBR3:uc002yve.3:exon3:c.492_494del:p.164_165del CBR3:NM_001236:exon3:c.492_494del:p.164_165del . . 0.45333335 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 75 . . . 0.0023 0.0011 0.0005 0.0023 0.0011 0.0005 . . . . . . . . . . 1.736e-04 . . . 9.628e-05 0.0002 0 0 0 0.0003 0 6.06e-05 0.0001 0.0002 0 0 0 0.0003 0 6.095e-05 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000159231 CBR3 CBR3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs560081575 . . . . . . . . . . . . . . . . . . . . . . . 0.001118 . . . . . 0.0001 0.0002 0 0.0001 0 4.484e-05 0.0003 0.0004 3.249e-05 0.0003 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0023 . . . . 1 1538 10 1.I 0,12,34 +rs150665851 21 38128931 C T - HLCS 4976 Holocarboxylase synthetase NM_001352514.1 -1 8295 2622 NP_001339443.1 substitution missense exon GRCh37 38128931 38128931 Chr21(GRCh37):g.38128931C>T 2362 2362 NM_001352514.1:c.2362G>A p.Val788Met p.Val788Met 10 609018 -89 5' 90.1175 8.94121 0.949337 3.69165 90.1175 8.94121 0.949337 3.69165 0 rs150665851 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.001997 0.000000 0.001000 0.000000 0.008000 0.001400 0.004718 0.000957 0.001511 0.008865 0.000000 0.003054 0.005130 0.013804 0.006650 0.013804 1308 23 52 90 0 94 650 356 43 277218 24030 34418 10152 18870 30782 126710 25790 6466 0.000036 0.000000 0.000000 0.000197 0.000000 0.000195 0.000016 0.000000 0.000000 5 0 0 1 0 3 1 0 0 1298 23 52 88 0 88 648 356 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4401 12965 36 5 41 0.00418605 0.00113482 0.00315239 0.00418605 0.00113482 0.00315239 208 RCV000430485.1 germline clinical testing Likely benign 1 not provided COSM6026664 Large intestine 0.000886 2257 transition G A G>A 0.362 0.528 V Val GTG 0.468 M Met ATG 1.000 788 13 7 Frog 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.22 II.66 255 PASS . 0.0032 0.01 . 0.01 . 0.002 0.0014 . 0.008 0.001 . . . . . 0.3943662 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.388 . @ . . . . . 1 0.606 . . 71.0 . . . 0.0011 0.0032 0.0042 0.0011 0.0032 0.0042 . -0.6719 -0.772 -0.672 c . . . . . 4.909e-03 . . . 0.0008 0.0034 0.0016 0 0.0145 0.0043 0.0028 0.0027 0.0009 0.0050 0.0016 0 0.0160 0.0065 0.0043 0.0027 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.970 . . exonic exonic exonic . . 0.228 0.0020 . . . 0.29 0.29 182 ENSG00000159267 HLCS HLCS . . . 1.000 0.489 . 335 0.00515575 64976 325 0.00541793 59986 Likely_benign . 0 . 0.263 . . . . . . . . . 37 . 0.920 . . 0.904 . . . 0.520 0.326 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.381 . . 0.396 . . . . . . 0 0.682 . . . . . 0.404 . 0.321 . HET 0.01 rs150665851 . . . . . . . 0.003205128205128205 0.0 0.0055248618784530384 0.0 0.006596306068601583 IX.21 8.03E-4 . IV.74 I.63 . 0.350000 P50747 . . . 0.003152 . 0.236 . . . 0.0008 0.0046 0.0015 0.0088 0 0.0134 0.0051 0.0047 0.0031 0.0013 0.0056 0.0012 0.0099 0 0.0166 0.0056 0.0173 . . 0.428 . 0.382 0.382000 . . 0.350000 . . 1.0E-255 0.288 0.250 . 0.138 0.860 . 0.286 . 0.140 0.382 0.871 0.01 . . rs150665851 rs150665851 1 1538 10 1/0 0,255,255 +rs1787365 21 38531921 C A - TTC3 12393 Tetratricopeptide repeat domain 3 NM_001320703.1 1 7987 6198 NP_001307632.1 substitution intron GRCh37 38531921 38531921 Chr21(GRCh37):g.38531921C>A 3113-80 3113-80 NM_001320703.1:c.3113-80C>A p.? p.? 30 29 602259 -80 3' 85.5061 8.08458 0.915323 5.95813 85.5061 8.08458 0.915323 6.16928 0 rs1787365 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 0.998807 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30989 8736 837 302 1622 0 15016 3494 982 30990 8736 838 302 1622 0 15016 3494 982 0.499984 0.500000 0.499403 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15494 4368 418 151 811 0 7508 1747 491 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 47 Genomes transversion C A C>A 0.000 -0.602 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . . . . . . . . . 0.0795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.48 0.25 182 ENSG00000182670 TTC3 TTC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1787365 1.000 1.000 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv70n68 . . . . . . . . . . . . . . . 1 1.0000 0.9988 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1787365 rs1787365 rs1787365 rs1787365 1 1538 255 1.I 0,0,255 +. 21 38539746 A AA - TTC3 12393 Tetratricopeptide repeat domain 3 NM_001320703.1 1 7987 6198 NP_001307632.1 duplication intron GRCh37 38539753 38539754 Chr21(GRCh37):g.38539753dup 4522-104 4522-104 NM_001320703.1:c.4522-104dup p.? p.? 35 34 602259 -103 3' 92.152 12.0988 0.993446 8.05092 92.152 12.0988 0.993446 8.05092 0 rs5843802 yes no Frequency/1000G 2 0.000000 0 0.999800 1.000000 1.000000 0.999000 1.000000 1.000000 0.999578 0.999195 1.000000 1.000000 0.999382 0.000000 0.999666 1.000000 1.000000 1.000000 30777 8693 826 298 1617 0 14967 3400 976 30790 8700 826 298 1618 0 14972 3400 976 0.499789 0.499597 0.500000 0.500000 0.499691 0.000000 0.499833 0.500000 0.500000 15382 4343 413 149 808 0 7481 1700 488 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.8666667 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 30 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000182670 TTC3 TTC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv70n68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs34865309 . . 1 1538 10 1.I 0,5,6 +. 21 38588731 T A - DSCR9 16301 Down syndrome critical region 9 (non-protein coding) NR_026719.2 1 1644 0 substitution intron GRCh37 38588731 38588731 Chr21(GRCh37):g.38588731T>A 146-3808 146-3808 NR_026719.2:n.146-3808T>A p.? p.? 3 2 -3808 3' 81.7191 5.35539 0.245659 6.65534 81.7191 5.35539 0.245659 6.65534 0 rs1018075947 yes no Frequency 1 T 0.000000 0 transversion T A T>A 0.449 0.125 255 PASS . . . . . . . . . . . . DSCR9:uc031rvh.1:exon4:c.T211A:p.L71M . . . 0.4347826 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||DSCR9|Non-coding_transcript|NON_CODING|NR_026719|) . . . . . . . -0.0002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000230366 DSCR9 DSCR9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv70n68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 21 40622761 T C - BRWD1 12760 Bromodomain and WD repeat domain containing 1 NM_018963.4 -1 8806 6963 NP_061836.2 Q9NSI6 substitution missense exon GRCh37 40622761 40622761 Chr21(GRCh37):g.40622761T>C 2310 2310 NM_018963.4:c.2310A>G p.Ile770Met p.Ile770Met 20 617824 -40 5' 81.2188 9.23916 0.956904 0 81.2188 9.23916 0.956904 0 0 transition A G A>G 0.315 -0.440 I Ile ATA 0.163 M Met ATG 1.000 770 11 5 Cow 2 1 2 0 0 5.II 5.VII 111 105 10 C0 164.38 0.00 Tolerated 0.13 III.35 255 PASS . . . . . . . . . . . . . . . . 0.6097561 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.209 . @ . . . . . 1 0.338 . . 41.0 . . . . . . . . . . -0.2260 -0.293 -0.226 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.546 . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000185658 BRWD1 BRWD1 . . . 0.081 0.159 . . . . . . . Uncertain_significance . 0 . 0.130 . . . . T 0.475 0.024 . . 37 . 0.392 . . 0.421 . . . 0.543 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.338 . . 0.434 . . . . . . 0 0.228 . . . . . 0.029 . 0.210 . HET 0.12 . . . . . . . . . . . . . 1.802 . ENST00000455867 IV.85 -1.61 . 0.180000 . . . . . . 0.226 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -0.087 -0.087000 . . 0.180000 . . 1.0E-255 0.000 0.063 . 0.750 0.998 . 0.051 . 0.807 -0.087 0.047 . . . . . 1 1538 10 1/0 0,255,255 +rs201537681 21 40630425 T C - BRWD1 12760 Bromodomain and WD repeat domain containing 1 NM_018963.4 -1 8806 6963 NP_061836.2 Q9NSI6 substitution missense exon GRCh37 40630425 40630425 Chr21(GRCh37):g.40630425T>C 2059 2059 NM_018963.4:c.2059A>G p.Thr687Ala p.Thr687Ala 18 617824 -13 5' 79.2237 7.95527 0.840151 0 79.2237 7.95527 0.840151 0 0 rs201537681 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000000 0.000181 0.000035 0.000000 0.000000 0.000000 0.000181 4 0 0 0 3 1 0 0 0 235516 14894 30584 9454 16552 28332 108336 22136 5228 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition A G A>G 1.000 3.918 T Thr ACA 0.280 A Ala GCA 0.226 687 11 8 Chicken 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 158.11 25.33 Tolerated 0.28 III.35 255 PASS . 0.0005 . 0.0017 . . 0.0004 . 0.002 . . . . . . . 0.5952381 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.303 . @ . . . . . 1 0.733 . . 42.0 . . . . . . . . . . 0.1345 0.249 0.135 c . . . . . 3.157e-05 . . . 0 4.444e-05 0 0.0007 0 0 0 0 0 2.844e-05 0 0.0004 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.561 . . exonic exonic exonic . . 0.799 0.0004 . . . 0.49 0.68 182 ENSG00000185658 BRWD1 BRWD1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.466 . . . . T 0.442 0.021 . . 37 . 0.650 . . 0.611 . . . 0.697 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.437 . . 0 0 0 0 0 0 . 0.764 . . 0.782 . . . . . . 0 0.395 . . . . . 0.645 . 0.713 . HET 0.1 rs201537681 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0017482517482517483 0.0 14.1079 . . V.46 V.46 . 0.420000 . . . . . . 0.958 . . V.46 0 1.698e-05 0 0 0.0002 0 0 0 3.53e-05 . . . . . . . . . . 0.465 . 2.090 2.090000 . . 0.420000 . . 1.0E-255 1.000 0.715 . 0.502 0.964 . 0.729 . 0.807 2.090 0.991 0.0017 . . rs201537681 rs201537681 1 1538 10 1/0 0,255,255 +. 21 40717035 TCACA T - HMGN1 4984 High mobility group nucleosome binding domain 1 NM_004965.6 -1 1304 303 NP_004956.5 P05114 deletion intron GRCh37 40717036 40717039 Chr21(GRCh37):g.40717036_40717039del 255+33 255+36 NM_004965.6:c.255+33_255+36del p.? p.? 5 5 163920 33 5' 81.7339 5.24236 0.505674 0 81.7339 5.24236 0.505674 0 0 rs574885349 yes no Frequency/1000G 2 0.499390 - 2458 0.490815 0.447000 0.518400 0.439500 0.505000 0.589300 TGTG 255 Pass . . . . . . . . . . . . . . . . 0.47826087 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . INTRON(MODIFIER||||HMGN1|mRNA|CODING|NM_004965|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000205581 HMGN1 HMGN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3067492 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv913744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72349214 rs72349214 rs72349214 1 1538 10 1.I 0,12,32 +. 21 44486550 A AC - CBS 1550 Cystathionine-beta-synthase NM_000071.2 -1 2590 1656 NP_000062.1 P35520 duplication intron GRCh37 44486550 44486551 Chr21(GRCh37):g.44486551dup 317-64 317-64 NM_000071.2:c.317-64dup p.? p.? 5 4 613381 -63 3' 81.9599 6.16805 0.754214 XII.07 81.9599 6.16805 0.754214 XII.01 0 New Donor Site 44486551 5.97401 0.331101 77.8436 rs772361626 yes no Frequency 1 0.000000 0 0.005581 0.000703 0.003632 0.000000 0.000000 0.000000 0.006219 0.016063 0.014768 0.016063 168 6 3 0 0 0 90 55 14 30102 8530 826 298 1604 0 14472 3424 948 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 168 6 3 0 0 0 90 55 14 0 0 0 0 0 0 0 0 0 PASS 40 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.55813956 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000160200 CBS CBS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs772361626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0056 0.0036 0 0 0.0161 0.0062 0.0148 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,25 +. 21 44486550 A AC - CBSL 51829 Cystathionine-beta-synthase like NM_001354014.1 -1 2647 1698 NP_001340943.1 duplication intron GRCh37 44486550 44486551 Chr21(GRCh37):g.44486551dup 317-64 317-64 NM_001354014.1:c.317-64dup p.? p.? 5 4 -63 3' 81.9599 6.16805 0.754214 XII.07 81.9599 6.16805 0.754214 XII.01 0 New Donor Site 44486551 5.97401 0.331101 77.8436 rs772361626 yes no Frequency 1 0.000000 0 0.005581 0.000703 0.003632 0.000000 0.000000 0.000000 0.006219 0.016063 0.014768 0.016063 168 6 3 0 0 0 90 55 14 30102 8530 826 298 1604 0 14472 3424 948 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 168 6 3 0 0 0 90 55 14 0 0 0 0 0 0 0 0 0 PASS 40 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.55813956 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000160200 CBS CBS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs772361626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0056 0.0036 0 0 0.0161 0.0062 0.0148 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,25 +rs117791519 21 45949769 G A - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution synonymous exon GRCh37 45949769 45949769 Chr21(GRCh37):g.45949769G>A 702 702 NM_144991.2:c.702C>T p.Asn234= p.Asn234Asn 5 612920 69 3' 88.5004 XI.43 0.965595 8.12245 88.5004 XI.43 0.965595 7.86164 0 rs117791519 yes no Frequency/1000G 2 G benign 0.000000 0 0.002196 0.001500 0.000000 0.000000 0.008000 0.001400 0.004626 0.001251 0.001542 0.000000 0.000106 0.000292 0.008657 0.002494 0.004190 0.008657 1277 30 53 0 2 9 1093 63 27 276056 23982 34360 10114 18864 30778 126254 25260 6444 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 1267 30 53 0 2 9 1083 63 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4402 12951 51 4 55 0.00593023 0.000907853 0.00422882 0.00593023 0.000907853 0.00422882 44 RCV000214464.1 germline clinical testing Benign 1 not specified transition C T C>T 0.000 -1.409 N Asn AAC 0.536 N Asn AAT 0.464 234 255 PASS 0.002 0.0037 . . 0.01 0.0015 0.0022 0.0014 . 0.008 . . . . . . 0.49173555 . . germline 119 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Benign Benign RCV000214464.1 not_specified MedGen CN169374 2 . . . 242.0 . . . 0.0009 0.0042 0.0059 0.0009 0.0042 0.0059 . 0.0490 . . . . . . . . 4.831e-03 . . . 0.0012 0.0032 0.0011 0 0.0021 0.0059 0.0043 0.0003 0.0011 0.0049 0.0011 0 0.0026 0.0087 0.0044 0.0003 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0022 . . . 0.2 0.39 182 ENSG00000175894 TSPEAR TSPEAR . . . . . . 391 0.00601761 64976 380 0.00633481 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004229 . . . . . 0.0012 0.0045 0.0016 0 0.0001 0.0024 0.0085 0.0044 0.0003 0.0014 0.0056 0 0 0 0.0032 0.0098 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs117791519 rs117791519 1 1538 10 1/0 0,223,247 +rs62218857 21 45959557 A T - KRTAP10-1 22966 Keratin associated protein 10-1 NM_198691.2 -1 1011 849 NP_941964.2 P60331 substitution missense exon GRCh37 45959557 45959557 Chr21(GRCh37):g.45959557A>T 477 477 NM_198691.2:c.477T>A p.Asp159Glu p.Asp159Glu 1 Keratin, high sulphur B2 protein rs62218857 yes no Frequency/1000G 2 A 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 7695 3962 11657 905 444 1349 0.105233 0.100772 0.103721 0.105233 0.100772 0.103721 104 COSM4004816|COSM4004816|COSM4004816 Urinary tract|Haematopoietic and lymphoid tissue|Breast 0.005952|0.000567|0.000408 672|3530|2453 transversion T A T>A 0.000 -0.521 D Asp GAT 0.461 E Glu GAA 0.417 159 9 3 Macaque 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 255 PASS . . . . . 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.T477A:p.D159E KRTAP10-1:uc002zfh.1:exon1:c.T477A:p.D159E KRTAP10-1:NM_198691:exon1:c.T477A:p.D159E . . 0.5140187 . . @ 110 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.046 . . 214.0 . . . 0.1 0.1 0.11 0.1 0.1 0.11 . -1.1478 -1.299 -1.148 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.048 0.3980 . . . 0.12 0.1 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.059 0.152 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.431 . . . 0.659 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.209 . . 0.158 . . . . . . 2 0.028 . . . . . 0.034 . 0.021 . HET 0.72 . . . . . . . . . . . . . 2.0978 0.149545 . 2.VI -3.21 . 0.100000 P60331 . . . 0.103721 . 0.053 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.637 -0.637000 . . 0.100000 . . 1.0E-255 0.001 0.137 . 0.152 0.257 . 0.123 . 0.099 -0.637 -0.607 0.11 rs62218857 rs62218857 rs62218857 rs62218857 1 1538 10 1/0 0,227,241 +rs62218857 21 45959557 A T - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 45959557 45959557 Chr21(GRCh37):g.45959557A>T 304-5751 304-5751 NM_144991.2:c.304-5751T>A p.? p.? 3 2 612920 -5751 3' 77.2848 8.79538 0.9255 8.85608 77.2848 8.79538 0.9255 8.85608 0 rs62218857 yes no Frequency/1000G 2 A 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 7695 3962 11657 905 444 1349 0.105233 0.100772 0.103721 0.105233 0.100772 0.103721 104 COSM4004816|COSM4004816|COSM4004816 Urinary tract|Haematopoietic and lymphoid tissue|Breast 0.005952|0.000567|0.000408 672|3530|2453 transversion T A T>A 0.000 -0.521 255 PASS . . . . . 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.T477A:p.D159E KRTAP10-1:uc002zfh.1:exon1:c.T477A:p.D159E KRTAP10-1:NM_198691:exon1:c.T477A:p.D159E . . 0.5140187 . . @ 110 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.046 . . 214.0 . . . 0.1 0.1 0.11 0.1 0.1 0.11 . -1.1478 -1.299 -1.148 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.048 0.3980 . . . 0.12 0.1 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.059 0.152 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.431 . . . 0.659 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.209 . . 0.158 . . . . . . 2 0.028 . . . . . 0.034 . 0.021 . HET 0.72 . . . . . . . . . . . . . 2.0978 0.149545 . 2.VI -3.21 . 0.100000 P60331 . . . 0.103721 . 0.053 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.637 -0.637000 . . 0.100000 . . 1.0E-255 0.001 0.137 . 0.152 0.257 . 0.123 . 0.099 -0.637 -0.607 0.11 rs62218857 rs62218857 rs62218857 rs62218857 1 1538 10 1/0 0,227,241 +rs62218858 21 45959558 T G - KRTAP10-1 22966 Keratin associated protein 10-1 NM_198691.2 -1 1011 849 NP_941964.2 P60331 substitution missense exon GRCh37 45959558 45959558 Chr21(GRCh37):g.45959558T>G 476 476 NM_198691.2:c.476A>C p.Asp159Ala p.Asp159Ala 1 Keratin, high sulphur B2 protein rs62218858 yes no Frequency/1000G 2 T 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244814 14992 33510 9808 17216 30758 110804 22266 5460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 324 Exomes 7597 3925 11522 1003 481 1484 0.116628 0.109169 0.114101 0.116628 0.109169 0.114101 103 COSM4004817|COSM4004817|COSM4004817|COSM4004817 Urinary tract|Pancreas|Haematopoietic and lymphoid tissue|Breast 0.008929|0.000569|0.000567|0.000408 672|1758|3530|2453 transversion A C A>C 0.000 -1.489 D Asp GAT 0.461 A Ala GCT 0.263 159 9 3 Macaque -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 353.86 0.00 Tolerated 0.78 IV.32 unknown 0.0 0.0 255 PASS 0.52 0.5 0.6 0.42 0.49 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.A476C:p.D159A KRTAP10-1:uc002zfh.1:exon1:c.A476C:p.D159A KRTAP10-1:NM_198691:exon1:c.A476C:p.D159A . . 0.5319149 . . @ 125 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.039 . . 235.0 . . . 0.11 0.11 0.12 0.11 0.11 0.12 . -2.1549 -2.171 -2.155 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.034 0.3980 . . . 0.12 0.13 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.374 0.199 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.255 . . . 0.012 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.153 . 0.022 . HET 1 . . . . . . . . 0.49862637362637363 0.524390243902439 0.5994475138121547 0.4230769230769231 0.49076517150395776 V.99 0.153558 . II.19 -4.38 . 1.000000 P60331 . . . 0.114101 . 0.011 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.184 -1.184000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.074 0.218 . 0.027 . 0.016 -1.184 -1.444 0.6 rs62218858 rs62218858 rs62218858 rs62218858 1 1538 10 1/0 0,223,235 +rs62218858 21 45959558 T G - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 45959558 45959558 Chr21(GRCh37):g.45959558T>G 304-5752 304-5752 NM_144991.2:c.304-5752A>C p.? p.? 3 2 612920 -5752 3' 77.2848 8.79538 0.9255 8.85608 77.2848 8.79538 0.9255 8.85608 0 Cryptic Acceptor Strongly Activated 45959538 3.71724 0.185467 78.4396 4.68693 0.213152 78.4396 rs62218858 yes no Frequency/1000G 2 T 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244814 14992 33510 9808 17216 30758 110804 22266 5460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 324 Exomes 7597 3925 11522 1003 481 1484 0.116628 0.109169 0.114101 0.116628 0.109169 0.114101 103 COSM4004817|COSM4004817|COSM4004817|COSM4004817 Urinary tract|Pancreas|Haematopoietic and lymphoid tissue|Breast 0.008929|0.000569|0.000567|0.000408 672|1758|3530|2453 transversion A C A>C 0.000 -1.489 255 PASS 0.52 0.5 0.6 0.42 0.49 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.A476C:p.D159A KRTAP10-1:uc002zfh.1:exon1:c.A476C:p.D159A KRTAP10-1:NM_198691:exon1:c.A476C:p.D159A . . 0.5319149 . . @ 125 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.039 . . 235.0 . . . 0.11 0.11 0.12 0.11 0.11 0.12 . -2.1549 -2.171 -2.155 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.034 0.3980 . . . 0.12 0.13 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.374 0.199 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.255 . . . 0.012 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.153 . 0.022 . HET 1 . . . . . . . . 0.49862637362637363 0.524390243902439 0.5994475138121547 0.4230769230769231 0.49076517150395776 V.99 0.153558 . II.19 -4.38 . 1.000000 P60331 . . . 0.114101 . 0.011 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.184 -1.184000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.074 0.218 . 0.027 . 0.016 -1.184 -1.444 0.6 rs62218858 rs62218858 rs62218858 rs62218858 1 1538 10 1/0 0,223,235 +rs62218859 21 45959559 C A - KRTAP10-1 22966 Keratin associated protein 10-1 NM_198691.2 -1 1011 849 NP_941964.2 P60331 substitution missense exon GRCh37 45959559 45959559 Chr21(GRCh37):g.45959559C>A 475 475 NM_198691.2:c.475G>T p.Asp159Tyr p.Asp159Tyr 1 Keratin, high sulphur B2 protein rs62218859 yes no Frequency/1000G 2 C 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 5893 2899 8792 2707 1507 4214 0.314767 0.342034 0.324004 0.314767 0.342034 0.324004 103 COSM1732400|COSM1732400|COSM1732400|COSM1732400 Urinary tract|Soft tissue|Haematopoietic and lymphoid tissue|Breast 0.008929|0.001838|0.000567|0.000408 672|544|3530|2453 transversion G T G>T 0.000 -0.037 D Asp GAT 0.461 Y Tyr TAT 0.438 159 9 3 Macaque -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 353.86 0.00 Tolerated 0.08 IV.32 unknown 0.0 0.0 255 PASS 0.55 0.51 0.6 0.43 0.5 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.G475T:p.D159Y KRTAP10-1:uc002zfh.1:exon1:c.G475T:p.D159Y KRTAP10-1:NM_198691:exon1:c.G475T:p.D159Y . . 0.46825397 . . @ 118 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.024 . . 252.0 . . . 0.34 0.32 0.31 0.34 0.32 0.31 . -1.4085 -1.595 -1.409 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.085 0.3980 . . . 0.09 0.1 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.020 0.132 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.098 . . . 0.659 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.408 . . 0.364 . . . . . . 2 0.424 . . . . . 0.044 . 0.072 . HET 0.04 . . . . . . . . 0.510989010989011 0.5467479674796748 0.6049723756906077 0.43356643356643354 0.5013192612137203 II.78 0.37908 . II.19 -1.37 . 0.040000 P60331 . . . 0.324004 . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.167 -1.167000 . . 0.040000 . . 1.0E-255 0.000 0.063 . 0.062 0.207 . 0.038 . 0.055 -1.167 -1.275 0.6 rs62218859 rs62218859 rs62218859 rs62218859 1 1538 10 1/0 0,216,234 +rs62218859 21 45959559 C A - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 45959559 45959559 Chr21(GRCh37):g.45959559C>A 304-5753 304-5753 NM_144991.2:c.304-5753G>T p.? p.? 3 2 612920 -5753 3' 77.2848 8.79538 0.9255 8.85608 77.2848 8.79538 0.9255 8.85608 0 rs62218859 yes no Frequency/1000G 2 C 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 5893 2899 8792 2707 1507 4214 0.314767 0.342034 0.324004 0.314767 0.342034 0.324004 103 COSM1732400|COSM1732400|COSM1732400|COSM1732400 Urinary tract|Soft tissue|Haematopoietic and lymphoid tissue|Breast 0.008929|0.001838|0.000567|0.000408 672|544|3530|2453 transversion G T G>T 0.000 -0.037 255 PASS 0.55 0.51 0.6 0.43 0.5 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.G475T:p.D159Y KRTAP10-1:uc002zfh.1:exon1:c.G475T:p.D159Y KRTAP10-1:NM_198691:exon1:c.G475T:p.D159Y . . 0.46825397 . . @ 118 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.024 . . 252.0 . . . 0.34 0.32 0.31 0.34 0.32 0.31 . -1.4085 -1.595 -1.409 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.085 0.3980 . . . 0.09 0.1 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.020 0.132 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.098 . . . 0.659 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.408 . . 0.364 . . . . . . 2 0.424 . . . . . 0.044 . 0.072 . HET 0.04 . . . . . . . . 0.510989010989011 0.5467479674796748 0.6049723756906077 0.43356643356643354 0.5013192612137203 II.78 0.37908 . II.19 -1.37 . 0.040000 P60331 . . . 0.324004 . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.167 -1.167000 . . 0.040000 . . 1.0E-255 0.000 0.063 . 0.062 0.207 . 0.038 . 0.055 -1.167 -1.275 0.6 rs62218859 rs62218859 rs62218859 rs62218859 1 1538 10 1/0 0,216,234 +rs383474 21 45994187 C T - KRTAP10-4 20521 Keratin associated protein 10-4 NM_198687.2 1 1643 1206 NP_941960.2 P60372 substitution synonymous exon GRCh37 45994187 45994187 Chr21(GRCh37):g.45994187C>T 552 552 NM_198687.2:c.552C>T p.Ser184= p.Ser184Ser 1 rs383474 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000450 0.000592 0.000292 0.000200 0.000434 0.000130 0.000657 0.000040 0.000488 0.000657 120 13 10 2 8 4 79 1 3 266854 21966 34222 10000 18430 30760 120242 25090 6144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 13 10 2 8 4 79 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4416365 Haematopoietic and lymphoid tissue 0.001416 3530 transition C T C>T 0.976 -0.037 S Ser AGC 0.243 S Ser AGT 0.149 184 174 PASS . . . . . . 0.0002 . 0.001 . . ENSG00000215454:ENST00000400374:exon1:c.C552T:p.S184S KRTAP10-4:uc002zfk.1:exon1:c.C552T:p.S184S KRTAP10-4:NM_198687:exon1:c.C552T:p.S184S . . 0.1017964 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . 0.2720 . . . . . . . . 1.588e-04 . . . 0 0.0002 8.864e-05 0.0002 0 0.0003 0 0.0002 0 0.0002 9.134e-05 0.0001 0 0.0002 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.24 0.09 182 ENSG00000215454 KRTAP10-4 KRTAP10-4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0 0.0001 0 0.0002 0 0.0001 0.0018 0.0033 0.0042 0.0078 0.0049 0.0003 0.0046 0.0041 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs383474 rs383474 rs383474 rs383474 1 1538 10 1/0 0,204,255 +rs383474 21 45994187 C T - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 45994187 45994187 Chr21(GRCh37):g.45994187C>T 83-6298 83-6298 NM_144991.2:c.83-6298G>A p.? p.? 2 1 612920 -6298 3' 89.1533 9.71676 0.984263 11.304 89.1533 9.71676 0.984263 11.304 0 rs383474 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000450 0.000592 0.000292 0.000200 0.000434 0.000130 0.000657 0.000040 0.000488 0.000657 120 13 10 2 8 4 79 1 3 266854 21966 34222 10000 18430 30760 120242 25090 6144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 13 10 2 8 4 79 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4416365 Haematopoietic and lymphoid tissue 0.001416 3530 transition G A G>A 0.976 -0.037 174 PASS . . . . . . 0.0002 . 0.001 . . ENSG00000215454:ENST00000400374:exon1:c.C552T:p.S184S KRTAP10-4:uc002zfk.1:exon1:c.C552T:p.S184S KRTAP10-4:NM_198687:exon1:c.C552T:p.S184S . . 0.1017964 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . 0.2720 . . . . . . . . 1.588e-04 . . . 0 0.0002 8.864e-05 0.0002 0 0.0003 0 0.0002 0 0.0002 9.134e-05 0.0001 0 0.0002 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.24 0.09 182 ENSG00000215454 KRTAP10-4 KRTAP10-4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0 0.0001 0 0.0002 0 0.0001 0.0018 0.0033 0.0042 0.0078 0.0049 0.0003 0.0046 0.0041 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs383474 rs383474 rs383474 rs383474 1 1538 10 1/0 0,204,255 +rs2981629 21 46020473 C T - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 46020473 46020473 Chr21(GRCh37):g.46020473C>T 83-32584 83-32584 NM_144991.2:c.83-32584G>A p.? p.? 2 1 612920 -32584 3' 89.1533 9.71676 0.984263 11.304 89.1533 9.71676 0.984263 11.304 0 rs2981629 yes no Frequency/1000G 2 0.000000 0 0.000459 0.001013 0.000286 0.001266 0.000783 0.000749 0.000241 0.000297 0.000805 0.001266 97 22 8 7 13 14 23 6 4 211140 21724 28004 5528 16602 18688 95430 20198 4966 0.000019 0.000000 0.000000 0.000000 0.000120 0.000000 0.000021 0.000000 0.000000 2 0 0 0 1 0 1 0 0 90 22 8 7 9 14 21 5 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.286 185 PASS . . . . . . . . . . . . . . . . 0.12418301 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . 0.0788 . . . . . . . . 9.699e-05 . . . 0.0001 4.691e-05 0 0.0002 0 3.128e-05 0 0 0.0001 5.274e-05 0 0.0002 0 4.813e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.22 182 ENSG00000175894 TSPEAR TSPEAR . . . . . . 3018 0.0464479 64976 1898 0.0316407 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0005 0.0003 0.0013 0.0008 0.0004 0.0003 0.0010 0.0007 0.0001 6.518e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs2981629 rs2981629 rs2981629 rs2981629 1 1538 10 1/0 0,210,255 +rs7276130 21 46392916 G A - FAM207A 15811 Family with sequence similarity 207 member A NM_058190.3 1 940 693 NP_478070.1 Q9NSI2 substitution intron GRCh37 46392916 46392916 Chr21(GRCh37):g.46392916G>A 501-196 501-196 NM_058190.3:c.501-196G>A p.? p.? 5 4 -196 3' 81.5654 8.91733 0.460852 9.62381 81.5654 8.91733 0.460852 9.62381 0 rs7276130 yes no Frequency/1000G 2 G 0.000000 0 0.000949 0.000740 0.001269 0.008850 0.001290 0.000000 0.001111 0.000294 0.000000 0.008850 27 6 1 2 2 0 15 1 0 28456 8108 788 226 1550 0 13496 3396 892 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 6 1 2 2 0 15 1 0 0 0 0 0 0 0 0 0 0 RF 51 Genomes transition G A G>A 0.000 0.367 192 PASS 0.15 0.24 0.28 0.28 0.25 . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . 0.2115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.26 0.11 182 ENSG00000160256 FAM207A FAM207A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs7276130 0.272 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0009 0.0013 0.0088 0.0013 0.0003 0.0011 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.28 rs7276130 rs7276130 rs7276130 rs7276130 1 1538 10 1/0 0,255,255 +rs28696990 21 46924434 A C - COL18A1 2195 Collagen type XVIII alpha 1 chain ENST00000359759.8 1 6586 5265 ENSP00000352798 P39060 substitution synonymous exon GRCh37 46924434 46924434 Chr21(GRCh37):g.46924434A>C 4077 4077 ENST00000359759.8:c.4077A>C p.Pro1359= p.Pro1359Pro 33 120328 -37 5' 78.9497 9.09184 0.989003 9.22838 78.9497 9.09184 0.989003 9.57798 0 Cryptic Acceptor Strongly Activated 46924445 1.09503 0.262022 8.24668 0.686439 76.3559 rs28696990 no no 0 0.000000 0 0.001282 0.012855 0.000763 0.000000 0.000000 0.000114 0.000171 0.000000 0.000941 0.012855 278 232 22 0 0 3 16 0 5 216796 18048 28850 8944 15146 26418 93762 20316 5312 0.000037 0.000111 0.000000 0.000000 0.000000 0.000000 0.000064 0.000000 0.000000 4 1 0 0 0 0 3 0 0 270 230 22 0 0 3 10 0 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5718480 Skin 0.000812 1232 transversion A C A>C 0.835 -0.682 P Pro CCA 0.274 P Pro CCC 0.328 1359 227 PASS . . . . . . . . . . . . . . . . 0.10294118 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 68.0 . . . . . . . . . . 0.9206 . . . . . . . . . . . . 0.1310 0.0105 0.03 0 0 0 0 0 0.1311 0.0078 0.0319 0 0 0 0 0 synonymous_SNV synonymous_SNV . . . . exonic exonic splicing . . . @ . . . 0.26 0.18 182 ENSG00000182871 COL18A1 COL18A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . rs28696990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0118 0.0008 0.0008 0 0 0 0.0002 0.0011 0.0001 0.0140 0.0040 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs28696990 rs28696990 rs28696990 rs28696990 1 1538 10 1/0 0,255,255 +rs113315760 21 46932129 G A - COL18A1 2195 Collagen type XVIII alpha 1 chain ENST00000359759.8 1 6586 5265 ENSP00000352798 P39060 substitution synonymous exon GRCh37 46932129 46932129 Chr21(GRCh37):g.46932129G>A 5082 5082 ENST00000359759.8:c.5082G>A p.Ser1694= p.Ser1694Ser 41 120328 28 3' 79.2987 7.66187 0.659875 5.26812 79.2987 7.66187 0.659875 IV.33 0 New Acceptor Site 46932131 0.11252 0.008632 65.3321 Collagenase NC10/endostatin C-type lectin fold rs113315760 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.001500 0.000000 0.000000 0.003000 0.000000 0.001005 0.000515 0.000759 0.000999 0.000107 0.000000 0.001733 0.000243 0.000637 0.001733 271 12 26 10 2 0 211 6 4 269632 23322 34266 10006 18694 30610 121744 24708 6282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 271 12 26 10 2 0 211 6 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8385 4160 12545 11 2 13 0.00131015 0.000480538 0.0010352 0.00131015 0.000480538 0.0010352 21 transition G A G>A 0.024 -3.023 S Ser TCG 0.056 S Ser TCA 0.148 1694 255 PASS . . . . . 0.0015 0.001 . . 0.003 . . . . . . 0.48815167 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 211.0 . . . 0.0005 0.001 0.0013 0.0005 0.001 0.0013 . -1.5389 . . . . . . . . 1.114e-03 . . . 0.0009 0.0011 0.0005 0 0 0.0019 0.0017 6.672e-05 0.0010 0.0013 0.0005 0 0.0005 0.0021 0 6.702e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.23 0.29 182 ENSG00000182871 COL18A1 COL18A1 . . . . . . 58 0.000892637 64976 54 0.00090021 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs113315760 . . . . . . . . . . . . 1.568 5.75E-4 ENST00000423214 4.VII -8.15 . . . . . . 0.001035 . . . . . 0.0005 0.0010 0.0007 0.0008 0.0001 0.0003 0.0018 0.0008 0 0.0005 0.0010 0.0012 0.0066 0 0 0.0015 0 . . . . -2.650 -2.650000 . . . . . 1.0E-255 . . . . . . . . . -2.650 . 0.0013 . . rs113315760 rs113315760 1 1538 10 1/0 0,226,243 +rs113315760 21 46932129 G A - SLC19A1 10937 Solute carrier family 19 member 1 NM_001352512.1 -1 4968 1776 NP_001339441.1 P41440 substitution downstream GRCh37 46932129 46932129 Chr21(GRCh37):g.46932129G>A *3443 *3443 NM_001352512.1:c.*3443C>T p.? p.? 6 600424 3926 3' 84.3594 X.05 0.933113 9.52816 84.3594 X.05 0.933113 9.52816 0 rs113315760 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.001500 0.000000 0.000000 0.003000 0.000000 0.001005 0.000515 0.000759 0.000999 0.000107 0.000000 0.001733 0.000243 0.000637 0.001733 271 12 26 10 2 0 211 6 4 269632 23322 34266 10006 18694 30610 121744 24708 6282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 271 12 26 10 2 0 211 6 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8385 4160 12545 11 2 13 0.00131015 0.000480538 0.0010352 0.00131015 0.000480538 0.0010352 21 transition C T C>T 0.024 -3.023 255 PASS . . . . . 0.0015 0.001 . . 0.003 . . . . . . 0.48815167 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 211.0 . . . 0.0005 0.001 0.0013 0.0005 0.001 0.0013 . -1.5389 . . . . . . . . 1.114e-03 . . . 0.0009 0.0011 0.0005 0 0 0.0019 0.0017 6.672e-05 0.0010 0.0013 0.0005 0 0.0005 0.0021 0 6.702e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.23 0.29 182 ENSG00000182871 COL18A1 COL18A1 . . . . . . 58 0.000892637 64976 54 0.00090021 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs113315760 . . . . . . . . . . . . 1.568 5.75E-4 ENST00000423214 4.VII -8.15 . . . . . . 0.001035 . . . . . 0.0005 0.0010 0.0007 0.0008 0.0001 0.0003 0.0018 0.0008 0 0.0005 0.0010 0.0012 0.0066 0 0 0.0015 0 . . . . -2.650 -2.650000 . . . . . 1.0E-255 . . . . . . . . . -2.650 . 0.0013 . . rs113315760 rs113315760 1 1538 10 1/0 0,226,243 +rs151158105 21 47412687 G A - COL6A1 2211 Collagen, type VI, alpha 1 NM_001848.2 1 4225 3087 NP_001839.2 P12109 substitution missense exon GRCh37 47412687 47412687 Chr21(GRCh37):g.47412687G>A 1298 1298 NM_001848.2:c.1298G>A p.Arg433Gln p.Arg433Gln 19 120220 26 3' 85.53 8.92937 0.927447 XII.53 85.53 8.92937 0.927447 12.491 0 Collagen triple helix repeat rs151158105 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.002457 0.000138 0.000309 0.000000 0.000507 0.000000 0.003985 0.005293 0.003501 0.005293 622 3 10 0 9 0 458 121 21 253160 21742 32372 9524 17758 27964 114940 22862 5998 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 620 3 10 0 9 0 456 121 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8572 4389 12961 20 1 21 0.00232775 0.00022779 0.00161762 0.00232775 0.00022779 0.00161762 26 RCV000403757.2|RCV000280526.1 germline|germline|germline clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|Likely benign 1|1 not specified|Collagen VI-related myopathy COSM3668531 Liver 0.000844 2371 transition G A G>A 0.787 0.286 R Arg CGG 0.207 Q Gln CAG 0.744 433 11 8 Cow 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 106.82 0.00 Tolerated 0.49 III.72 good 9.536E-1 0.2776 255 PASS . 0.0009 . . 0.0026 . 0.0008 0.0014 . 0.003 . ENSG00000142156:ENST00000361866:exon19:c.G1298A:p.R433Q COL6A1:uc002zhu.1:exon19:c.G1298A:p.R433Q COL6A1:NM_001848:exon19:c.G1298A:p.R433Q . . 0.375 . . germline 27 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.299 . Likely//\@benign//\%//\@Benign Likely_benign|Benign RCV000280526.1|RCV000403757.1 Collagen_VI-related_myopathy|not_specified MedGen|MedGen CN117976|CN169374 1 0.236 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R433Q|COL6A1|mRNA|CODING|NM_001848|NM_001848.ex.19) 0.0002 0.0016 0.0023 0.0002 0.0016 0.0023 . -1.0993 -0.993 -1.099 c . . . . . 2.778e-03 . . . 0 0.0024 0.0003 0 0.0175 0.0047 0 0 0 0.0060 0 0.0008 0.0210 0.0118 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.926 . . exonic exonic exonic . . 0.197 0.0008 . . . 0.15 0.42 182 ENSG00000142156 COL6A1 COL6A1 . . . 1.000 0.480 . 168 0.00258557 64976 164 0.00273397 59986 Benign . 0 . 0.194 . . . . . . . . . 37 . 0.758 . . 0.616 . . . 0.152 0.266 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.174 . . 0.112 . . . . . . 0 0.093 . . . . . 0.132 . 0.199 . HET 0.35 rs151158105 0.011 0.007 . . . . ID\x3dCOSM3668531\x3bOCCURENCE\x3d1(liver) 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 4.932 2.69E-4 . 4.0 I.13 . 0.710000 P12109 . . . 0.001618 . 0.060 . . . 7.671e-05 0.0025 0.0003 0 0.0004 0.0051 0.0041 0.0036 0 0.0002 0.0025 0.0024 0 0.0012 0.0066 0.0029 0.0031 . . 0.567 . 0.312 0.312000 . . 0.710000 . . 1.0E-255 0.001 0.137 . 0.347 0.851 . 0.084 . 0.200 0.312 -0.045 0.011 . . rs151158105 rs151158105 1 1538 10 1/0 0,255,255 +rs149481630 21 47581866 G A - SPATC1L 1298 Spermatogenesis and centriole associated 1-like NM_001142854.1 -1 2316 1023 NP_001136326.1 Q9H0A9 substitution synonymous exon GRCh37 47581866 47581866 Chr21(GRCh37):g.47581866G>A 660 660 NM_001142854.1:c.660C>T p.Gly220= p.Gly220Gly 4 612412 -37 5' 79.0738 9.09964 0.855211 XII.78 79.0738 9.09964 0.855211 XI.76 0 rs149481630 yes no Frequency/1000G 2 G 0.000000 0 0.004193 0.000000 0.003100 0.000000 0.009900 0.011500 0.007962 0.001773 0.004682 0.007657 0.000054 0.008396 0.011892 0.004037 0.009097 0.011892 2115 41 160 76 1 256 1433 91 57 265632 23124 34172 9926 18608 30490 120504 22542 6266 0.000136 0.000000 0.000000 0.000201 0.000000 0.000262 0.000199 0.000089 0.000000 18 0 0 1 0 4 12 1 0 2079 41 160 74 1 248 1409 89 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8481 4376 12857 105 12 117 0.0122292 0.00273473 0.00901804 0.0122292 0.00273473 0.00901804 29 COSM6026687 Large intestine 0.000896 2231 transition C T C>T 0.961 -0.360 G Gly GGC 0.342 G Gly GGT 0.162 220 255 PASS . 0.0037 0.01 . 0.01 . 0.0042 0.011 . 0.0099 0.0031 . . . . . 0.5 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 110.0 . . . 0.0027 0.009 0.012 0.0027 0.009 0.012 . 0.9260 . . . . . . . . 8.290e-03 . . . 0.0018 0.0099 0.0043 0.0002 0.0040 0.0153 0.0165 0.0096 0.0019 0.0093 0.0039 0.0001 0.0068 0.0130 0.0147 0.0096 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0042 . . . 0.28 0.22 182 ENSG00000160284 SPATC1L SPATC1L . . . . . . 669 0.0102961 64976 647 0.0107858 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149481630 . . . . . . . . . . . . . . . . . . . . . . . 0.009018 . . . . . 0.0018 0.0081 0.0047 0.0076 5.887e-05 0.0040 0.0119 0.0085 0.0084 0.0017 0.0071 0.0048 0.0099 0 0.0040 0.0115 0.0123 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs149481630 rs149481630 1 1538 10 1/0 0,255,255 +rs545047663 21 47856838 A G - PCNT 16068 Pericentrin NM_006031.5 1 10560 10011 NP_006022.3 O95613 substitution intron GRCh37 47856838 47856838 Chr21(GRCh37):g.47856838A>G 8997-54 8997-54 NM_006031.5:c.8997-54A>G p.? p.? 40 39 605925 -54 3' 98.7596 9.23087 0.94954 7.47611 98.7596 9.23087 0.94954 7.27572 0 rs545047663 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30964 8728 838 302 1622 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.53333336 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.1377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000160299 PCNT PCNT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs545047663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.23e-05 0 0 0 0 6.668e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr21:48110856 G/A) 21 48110856 G A No Alamut gene - other known genes: RPL23AP4 RPL23AP4 +rs111341656 (chr21:48110918 A/G) 21 48110918 A G No Alamut gene - other known genes: RPL23AP4 RPL23AP4 +. (chr21:48110940 T/C) 21 48110940 T C No Alamut gene - other known genes: RPL23AP4 RPL23AP4 +rs8140563 (chr22:16100514 C/G) 22 16100514 C G Not on a known gene +rs2716311 22 16158763 A G - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158763 16158763 Chr22(GRCh37):g.16158763A>G 264+1421 264+1421 NR_133911.1:n.264+1421A>G p.? p.? 1 1 1421 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 rs2716311 no no 0 A 0.000000 0 0.002374 0.020505 0.000000 0.000000 0.000000 0.000000 0.000474 0.000000 0.000000 0.020505 14 13 0 0 0 0 1 0 0 5896 634 314 50 104 0 2110 2398 286 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 13 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition A G A>G 0.000 -1.732 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.8172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.1 182 . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2716311 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0205 0.0024 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . 0.011 rs2716311 rs2716311 rs2716311 rs2716311 1 1538 10 1/0 0,255,255 +rs2716311 22 16158763 A G - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158763 16158763 Chr22(GRCh37):g.16158763A>G 814+3634 814+3634 NR_122113.1:n.814+3634T>C p.? p.? 7 7 3634 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 rs2716311 no no 0 A 0.000000 0 0.002374 0.020505 0.000000 0.000000 0.000000 0.000000 0.000474 0.000000 0.000000 0.020505 14 13 0 0 0 0 1 0 0 5896 634 314 50 104 0 2110 2398 286 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 13 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition T C T>C 0.000 -1.732 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.8172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.1 182 . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2716311 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0205 0.0024 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . 0.011 rs2716311 rs2716311 rs2716311 rs2716311 1 1538 10 1/0 0,255,255 +. 22 16158778 C T - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158778 16158778 Chr22(GRCh37):g.16158778C>T 264+1436 264+1436 NR_133911.1:n.264+1436C>T p.? p.? 1 1 1436 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 0.002515 0.018600 0.000000 0.000000 0.000000 0.000000 0.000354 0.000000 0.000000 0.018600 18 17 0 0 0 0 1 0 0 7156 914 354 78 170 0 2828 2486 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 17 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.012 0.125 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.3783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0186 0.0025 0 0 0 0 0.0004 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158778 C T - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158778 16158778 Chr22(GRCh37):g.16158778C>T 814+3619 814+3619 NR_122113.1:n.814+3619G>A p.? p.? 7 7 3619 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 Cryptic Donor Strongly Activated 16158777 6.64637 0.195381 81.0413 8.68007 0.851586 90.0021 0.002515 0.018600 0.000000 0.000000 0.000000 0.000000 0.000354 0.000000 0.000000 0.018600 18 17 0 0 0 0 1 0 0 7156 914 354 78 170 0 2828 2486 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 17 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition G A G>A 0.012 0.125 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.3783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0186 0.0025 0 0 0 0 0.0004 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158787 C A - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158787 16158787 Chr22(GRCh37):g.16158787C>A 264+1445 264+1445 NR_133911.1:n.264+1445C>A p.? p.? 1 1 1445 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 0.002995 0.019737 0.000000 0.000000 0.000000 0.000000 0.000627 0.000000 0.000000 0.019737 23 21 0 0 0 0 2 0 0 7680 1064 382 78 210 0 3190 2412 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 21 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transversion C A C>A 0.004 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0197 0.0030 0 0 0 0 0.0006 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158787 C A - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158787 16158787 Chr22(GRCh37):g.16158787C>A 814+3610 814+3610 NR_122113.1:n.814+3610G>T p.? p.? 7 7 3610 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 Cryptic Donor Strongly Activated 16158793 0.003013 58.5628 0.676173 0.004479 63.5815 0.002995 0.019737 0.000000 0.000000 0.000000 0.000000 0.000627 0.000000 0.000000 0.019737 23 21 0 0 0 0 2 0 0 7680 1064 382 78 210 0 3190 2412 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 21 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transversion G T G>T 0.004 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0197 0.0030 0 0 0 0 0.0006 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158794 C G - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158794 16158794 Chr22(GRCh37):g.16158794C>G 264+1452 264+1452 NR_133911.1:n.264+1452C>G p.? p.? 1 1 1452 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 New Acceptor Site 16158795 7.99361 0.236414 72.472 0.002648 0.015464 0.000000 0.000000 0.000000 0.000000 0.000880 0.000000 0.000000 0.015464 21 18 0 0 0 0 3 0 0 7930 1164 388 74 226 0 3410 2336 332 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 18 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion C G C>G 0.000 0.205 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.3809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0155 0.0026 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158794 C G - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158794 16158794 Chr22(GRCh37):g.16158794C>G 814+3603 814+3603 NR_122113.1:n.814+3603G>C p.? p.? 7 7 3603 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 0.002648 0.015464 0.000000 0.000000 0.000000 0.000000 0.000880 0.000000 0.000000 0.015464 21 18 0 0 0 0 3 0 0 7930 1164 388 74 226 0 3410 2336 332 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 18 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion G C G>C 0.000 0.205 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.3809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0155 0.0026 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2843307 22 16158839 T A - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158839 16158839 Chr22(GRCh37):g.16158839T>A 264+1497 264+1497 NR_133911.1:n.264+1497T>A p.? p.? 1 1 1497 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 New Acceptor Site 16158841 I.59 0.006035 77.0653 rs2843307 no no 0 T 0.000000 0 0.003665 0.018868 0.000000 0.000000 0.000000 0.000000 0.000618 0.000000 0.000000 0.018868 35 32 0 0 0 0 3 0 0 9550 1696 430 84 464 0 4856 1712 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 32 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transversion T A T>A 0.012 -1.732 199 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.8277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.27 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2843307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0189 0.0037 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs2843307 rs2843307 rs2843307 rs2843307 1 1538 10 1/0 0,251,255 +rs2843307 22 16158839 T A - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158839 16158839 Chr22(GRCh37):g.16158839T>A 814+3558 814+3558 NR_122113.1:n.814+3558A>T p.? p.? 7 7 3558 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 rs2843307 no no 0 T 0.000000 0 0.003665 0.018868 0.000000 0.000000 0.000000 0.000000 0.000618 0.000000 0.000000 0.018868 35 32 0 0 0 0 3 0 0 9550 1696 430 84 464 0 4856 1712 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 32 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transversion A T A>T 0.012 -1.732 199 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.8277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.27 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2843307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0189 0.0037 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs2843307 rs2843307 rs2843307 rs2843307 1 1538 10 1/0 0,251,255 +rs1061073 22 16159031 C G - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16159031 16159031 Chr22(GRCh37):g.16159031C>G 264+1689 264+1689 NR_133911.1:n.264+1689C>G p.? p.? 1 1 1689 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 Cryptic Donor Strongly Activated 16159028 3.99481 0.279751 78.1021 7.93332 0.979402 83.6222 rs1061073 no no 0 C 0.000000 0 0.000033 0.000120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000120 1 1 0 0 0 0 0 0 0 30518 8308 838 302 1614 0 14988 3492 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion C G C>G 0.008 0.205 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.3650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.18 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs1061073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.277e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs1061073 rs1061073 rs1061073 rs1061073 1 1538 10 1.I 0,0,0 +rs1061073 22 16159031 C G - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16159031 16159031 Chr22(GRCh37):g.16159031C>G 814+3366 814+3366 NR_122113.1:n.814+3366G>C p.? p.? 7 7 3366 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 rs1061073 no no 0 C 0.000000 0 0.000033 0.000120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000120 1 1 0 0 0 0 0 0 0 30518 8308 838 302 1614 0 14988 3492 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion G C G>C 0.008 0.205 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.3650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.18 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs1061073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.277e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs1061073 rs1061073 rs1061073 rs1061073 1 1538 10 1.I 0,0,0 +rs2019636 22 16159046 T C - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16159046 16159046 Chr22(GRCh37):g.16159046T>C 264+1704 264+1704 NR_133911.1:n.264+1704T>C p.? p.? 1 1 1704 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 rs2019636 yes no Frequency 1 C 0.000000 0 transition T C T>C 0.008 0.125 235 PASS . . . . . . . . . . . . . . . . 0.26190478 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.28 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2019636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs2019636 rs2019636 rs2019636 rs199975307 1 1538 10 1/0 0,255,255 +rs2019636 22 16159046 T C - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16159046 16159046 Chr22(GRCh37):g.16159046T>C 814+3351 814+3351 NR_122113.1:n.814+3351A>G p.? p.? 7 7 3351 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 rs2019636 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.008 0.125 235 PASS . . . . . . . . . . . . . . . . 0.26190478 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.28 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2019636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs2019636 rs2019636 rs2019636 rs199975307 1 1538 10 1/0 0,255,255 +. 22 16171481 G A - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16171481 16171481 Chr22(GRCh37):g.16171481G>A 353-471 353-471 NR_133911.1:n.353-471G>A p.? p.? 3 2 -471 3' 86.6928 10.1238 0.952536 3.60879 86.6928 10.1238 0.952536 3.60879 0 Cryptic Acceptor Weakly Activated 16171500 0.012982 70.8971 0.833783 0.013435 70.8971 0.004396 0.002473 0.003378 0.000000 0.000000 0.000000 0.005671 0.004522 0.008427 0.005671 46 6 1 0 0 0 29 7 3 10464 2426 296 118 606 0 5114 1548 356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 6 1 0 0 0 29 7 3 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition G A G>A 1.000 2.546 199 PASS . . . . . . . . . . . . . . . . 0.15714286 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.1858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000232775 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0044 0.0034 0 0 0.0045 0.0057 0.0084 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 22 16171481 G A - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16171481 16171481 Chr22(GRCh37):g.16171481G>A 724-8994 724-8994 NR_122113.1:n.724-8994C>T p.? p.? 7 6 -8994 3' 95.4391 9.54342 0.96426 6.22016 95.4391 9.54342 0.96426 6.22016 0 Cryptic Acceptor Strongly Activated 16171476 0.533887 0.002235 70.3219 1.53983 0.007596 73.8675 0.004396 0.002473 0.003378 0.000000 0.000000 0.000000 0.005671 0.004522 0.008427 0.005671 46 6 1 0 0 0 29 7 3 10464 2426 296 118 606 0 5114 1548 356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 6 1 0 0 0 29 7 3 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition C T C>T 1.000 2.546 199 PASS . . . . . . . . . . . . . . . . 0.15714286 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.1858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000232775 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0044 0.0034 0 0 0.0045 0.0057 0.0084 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +rs12484007 22 16172112 G A - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution exon GRCh37 16172112 16172112 Chr22(GRCh37):g.16172112G>A 513 513 NR_133911.1:n.513G>A 3 161 3' 86.6928 10.1238 0.952536 3.60879 86.6928 10.1238 0.952536 3.60879 0 rs12484007 yes no Frequency 1 G 0.000000 0 0.000907 0.000495 0.000000 0.000000 0.000000 0.000000 0.000441 0.003425 0.003344 0.003425 16 2 0 0 0 0 4 8 2 17642 4040 558 180 866 0 9064 2336 598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 0 0 0 0 4 8 2 0 0 0 0 0 0 0 0 0 RF 26 Genomes transition G A G>A 1.000 0.609 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . -0.0984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.23 182 ENSG00000232775 LINC00516 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs12484007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0009 0 0 0 0.0034 0.0004 0.0033 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs12484007 rs12484007 rs12484007 rs12484007 1 1538 10 1/0 0,255,255 +rs12484007 22 16172112 G A - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16172112 16172112 Chr22(GRCh37):g.16172112G>A 724-9625 724-9625 NR_122113.1:n.724-9625C>T p.? p.? 7 6 -9625 3' 95.4391 9.54342 0.96426 6.22016 95.4391 9.54342 0.96426 6.22016 0 rs12484007 yes no Frequency 1 G 0.000000 0 0.000907 0.000495 0.000000 0.000000 0.000000 0.000000 0.000441 0.003425 0.003344 0.003425 16 2 0 0 0 0 4 8 2 17642 4040 558 180 866 0 9064 2336 598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 0 0 0 0 4 8 2 0 0 0 0 0 0 0 0 0 RF 26 Genomes transition C T C>T 1.000 0.609 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . -0.0984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.23 182 ENSG00000232775 LINC00516 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs12484007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0009 0 0 0 0.0034 0.0004 0.0033 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs12484007 rs12484007 rs12484007 rs12484007 1 1538 10 1/0 0,255,255 +. 22 16262933 T G - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution intron GRCh37 16262933 16262933 Chr22(GRCh37):g.16262933T>G 1520+3996 1520+3996 NM_001136213.1:c.1520+3996A>C p.? p.? 9 9 608913 3996 5' 100 X.83 0.999028 6.73022 100 X.83 0.999028 6.73022 0 transversion A C A>C 0.000 -0.117 192 PASS . . . . . . . . . . . . . . . . 0.13953489 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||POTEH|mRNA|CODING|NM_001136213|) . . . . . . . -0.3532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198062 POTEH POTEH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 22 16282463 T G - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution intron GRCh37 16282463 16282463 Chr22(GRCh37):g.16282463T>G 747+15 747+15 NM_001136213.1:c.747+15A>C p.? p.? 2 2 608913 15 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.77652 0 0.009298 0.000000 0.006073 0.000000 0.000000 0.020000 0.000000 0.000000 0.000000 0.020000 9 0 3 0 0 6 0 0 0 968 8 494 14 16 300 80 0 56 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 3 0 0 6 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -0.360 226 PASS . . . . . . . . . . . . . . . . 0.22966507 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . -0.3121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198062 POTEH POTEH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0093 0.0061 0 0 . 0 0 0.02 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs4561744 22 16282664 C T - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution intron GRCh37 16282664 16282664 Chr22(GRCh37):g.16282664C>T 633-72 633-72 NM_001136213.1:c.633-72G>A p.? p.? 2 1 608913 -72 3' 78.903 7.63058 0.895947 5.96953 78.903 7.63058 0.895947 6.11351 0 rs4561744 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.54471546 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . INTRON(MODIFIER||||POTEH|mRNA|CODING|NM_001136213|) . . . . . . . -0.6042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.32 182 ENSG00000198062 POTEH POTEH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4561744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4561744 rs4561744 rs4561744 rs4561744 1 1538 10 1/0 0,255,255 +rs202187764 22 16287562 G C - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution missense exon GRCh37 16287562 16287562 Chr22(GRCh37):g.16287562G>C 324 324 NM_001136213.1:c.324C>G p.Cys108Trp p.Cys108Trp 1 608913 -309 5' 78.4708 8.54931 0.957079 8.73542 78.4708 8.54931 0.957079 8.73542 0 rs202187764 yes no Frequency 1 C 0.000000 0 0.001595 0.000631 0.002242 0.000463 0.002931 0.002719 0.000911 0.002797 0.002303 0.002931 363 12 61 4 47 70 94 63 12 227576 19006 27204 8634 16036 25746 103218 22522 5210 0.000228 0.000000 0.000147 0.000000 0.000125 0.000000 0.000097 0.001510 0.000384 26 0 2 0 1 0 5 17 1 311 12 57 4 45 70 84 29 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.024 0.286 C Cys TGC 0.552 W Trp TGG 1.000 108 -5 -2 -5 II.75 0.13 5.V 5.IV 55 170 215 198 PASS . . . . . . . . . . . . POTEH:uc010gqp.2:exon1:c.C324G:p.C108W POTEH:NM_001136213:exon1:c.C324G:p.C108W . . 0.15227273 . . @ 67 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 440.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgC/tgG|C108W|POTEH|mRNA|CODING|NM_001136213|NM_001136213.ex.1) . . . . . . . -0.5941 . . . . . . . . 2.751e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.07 182 ENSG00000198062 POTEH POTEH . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.2 rs202187764 . . . . . . . . . . . . . 0.00115 . . . . 0.180000 Q6S545 . . . . . . . . . 0.0008 0.0016 0.0022 0.0005 0.0032 0.0018 0.0010 0.0019 0.0027 0.0003 0.0019 0.0068 0 0 0.0112 0.0004 0.0051 . . . . 0.269 0.269000 . . 0.180000 . . 1.0E-198 . . . . . . . . . 0.269 . . . . rs202187764 rs202187764 1 1538 10 1/0 0,167,255 +rs200785274 22 16287622 A G - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution synonymous exon GRCh37 16287622 16287622 Chr22(GRCh37):g.16287622A>G 264 264 NM_001136213.1:c.264T>C p.Asp88= p.Asp88Asp 1 608913 -369 5' 78.4708 8.54931 0.957079 8.73542 78.4708 8.54931 0.957079 8.73542 0 rs200785274 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.002300 0.003100 0.001000 0.001000 0.000000 0.000038 0.000000 0.000034 0.000000 0.000000 0.000000 0.000048 0.000132 0.000000 0.000132 9 0 1 0 0 0 5 3 0 235060 18274 29522 8590 18244 28676 103648 22696 5410 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 7 0 1 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -1.328 D Asp GAT 0.461 D Asp GAC 0.539 88 183 PASS . . . . . 0.0023 0.0016 . 0.001 0.001 0.0031 . POTEH:uc010gqp.2:exon1:c.T264C:p.D88D POTEH:NM_001136213:exon1:c.T264C:p.D88D . . 0.13103448 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 435.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D88|POTEH|mRNA|CODING|NM_001136213|NM_001136213.ex.1) . . . . . . . -0.7446 -0.279 -0.745 n . . . . . 1.840e-04 . . . 0.0001 0.0001 0.0002 0 0 0.0002 0 6.638e-05 0 0.0001 0.0002 0 0 0.0002 0 6.68e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.3 0.06 182 ENSG00000198062 POTEH POTEH . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200785274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.773e-05 3.44e-05 0 0 0 5.267e-05 0 0 0 0.0002 0 0 0 0.0014 0 0 . . 0.133 . . . . . . . . 1.0E-183 0.002 0.151 . 0.043 . . 0.033 . 0.023 . . . . . rs200785274 rs200785274 1 1538 10 1/0 0,166,255 +rs201321237 22 16287661 G A - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution synonymous exon GRCh37 16287661 16287661 Chr22(GRCh37):g.16287661G>A 225 225 NM_001136213.1:c.225C>T p.Ser75= p.Ser75Ser 1 608913 -408 5' 78.4708 8.54931 0.957079 8.73542 78.4708 8.54931 0.957079 8.73542 0 rs201321237 yes no Frequency 1 G 0.000000 0 0.001028 0.000303 0.000332 0.000000 0.002050 0.000952 0.000895 0.003057 0.000957 0.003057 228 6 9 0 27 21 93 67 5 221870 19796 27128 8690 13170 22066 103874 21920 5226 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 226 6 9 0 27 21 91 67 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7707 4157 11864 39 9 48 0.00503486 0.00216035 0.00402955 0.00503486 0.00216035 0.00402955 92 transition C T C>T 0.075 0.125 S Ser AGC 0.243 S Ser AGT 0.149 75 169 PASS . . . . . . . . . . . . POTEH:uc010gqp.2:exon1:c.C225T:p.S75S POTEH:NM_001136213:exon1:c.C225T:p.S75S . . 0.10051993 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 577.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S75|POTEH|mRNA|CODING|NM_001136213|NM_001136213.ex.1) 0.0022 0.004 0.005 0.0022 0.004 0.005 . -0.4877 . . . . . . . . 8.383e-05 . . . 0.0001 0.0001 0 0.0010 0 8.947e-05 0.0017 8.472e-05 0 4.819e-05 0 0.0005 0 0 0 8.512e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.2 182 ENSG00000198062 POTEH POTEH . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201321237 . . . . . . . . . . . . . . . . . . . . . . . 0.004030 . . . . . 0.0003 0.0009 0.0002 0 0.0012 0.0031 0.0007 0.0011 0.0010 0.0003 0.0027 0.0079 0 0.0124 0.0027 0.0033 0 . . . . . . . . . . . 1.0E-169 . . . . . . . . . . . 0.005 . . rs201321237 rs201321237 1 1538 10 1/0 0,151,255 +. (chr22:16353291 A/G) 22 16353291 A G No Alamut gene - other known genes: NF1P6 NF1P6 +rs879177664 (chr22:16353409 C/T) 22 16353409 C T No Alamut gene - other known genes: NF1P6 NF1P6 +rs200330272 22 16449003 T C - OR11H1 15404 Olfactory receptor, family 11, subfamily H, member 1 NM_001005239.1 -1 981 981 NP_001005239.1 Q8NG94 substitution missense exon GRCh37 16449003 16449003 Chr22(GRCh37):g.16449003T>C 802 802 NM_001005239.1:c.802A>G p.Ser268Gly p.Ser268Gly 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs200330272 yes no Frequency 1 T 0.000000 0 0.001193 0.001521 0.000338 0.001748 0.000989 0.000000 0.001783 0.000672 0.000399 0.001783 117 21 4 3 9 0 70 9 1 98102 13808 11848 1716 9100 6456 39270 13396 2508 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 21 4 3 9 0 70 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4593675|COSM4593675|COSM4593675|COSM4593675 Upper aerodigestive tract|Thyroid|Pancreas|Haematopoietic and lymphoid tissue 0.004019|0.001339|0.000576|0.000283 1244|747|1736|3530 transition A G A>G 0.354 0.286 S Ser AGC 0.243 G Gly GGC 0.342 268 10 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 95.09 0.00 Tolerated 1 IV.32 good 9.994E-1 0.0171 242 PASS . . . . . . . . . . . ENSG00000130538:ENST00000252835:exon1:c.A802G:p.S268G OR11H1:uc011agd.2:exon1:c.A802G:p.S268G OR11H1:NM_001005239:exon1:c.A802G:p.S268G . . 0.2793296 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 179.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S268G|OR11H1|mRNA|CODING|NM_001005239|NM_001005239.ex.1) . . . . . . . -1.7446 . . . . . . . . 4.280e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.34 182 ENSG00000130538 OR11H1 OR11H1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs200330272 . . . . . . . . . . . . V.71 0.01108 ENST00000252835 I.88 I.88 . 1.000000 Q8NG94 . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0027 0.0047 0.0056 0.0153 0.0077 0.0031 0.0062 0.0014 . . . . 0.072 0.072000 . . 1.000000 . . 1.0E-242 . . . . . . . . . 0.072 . . rs2259909 rs2259909 rs2259909 rs200330272 1 1538 10 1/0 0,218,255 +rs774847876 22 16449209 C A - OR11H1 15404 Olfactory receptor, family 11, subfamily H, member 1 NM_001005239.1 -1 981 981 NP_001005239.1 Q8NG94 substitution missense exon GRCh37 16449209 16449209 Chr22(GRCh37):g.16449209C>A 596 596 NM_001005239.1:c.596G>T p.Arg199Leu p.Arg199Leu 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily Olfactory receptor rs774847876 yes no Frequency 1 C 0.000000 0 0.000220 0.000914 0.000155 0.000000 0.000106 0.000000 0.000166 0.000000 0.000000 0.000914 21 12 2 0 1 0 6 0 0 95614 13122 12914 1902 9462 7082 36228 12300 2604 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 12 2 0 1 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424159 Haematopoietic and lymphoid tissue 0.000567 3530 transversion G T G>T 0.016 1.497 R Arg CGA 0.110 L Leu CTA 0.070 199 10 1 -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 101.88 0.00 Tolerated 1 IV.32 good 1,00E+00 0.001817 198 PASS . . . . . . . . . . . ENSG00000130538:ENST00000252835:exon1:c.G596T:p.R199L OR11H1:uc011agd.2:exon1:c.G596T:p.R199L OR11H1:NM_001005239:exon1:c.G596T:p.R199L . . 0.15441176 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cTa|R199L|OR11H1|mRNA|CODING|NM_001005239|NM_001005239.ex.1) . . . . . . . -2.1607 . . . . . . . . 3.270e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.23 182 ENSG00000130538 OR11H1 OR11H1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs774847876 . . . . . . . . . . . . 6.496 . ENST00000252835 I.88 I.88 . 1.000000 Q8NG94 . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0016 0.0008 0.0029 0 0.0007 0 0.0005 0 . . . . -0.029 -0.029000 . . 1.000000 . . 1.0E-198 . . . . . . . . . -0.029 . . rs2212201 rs2212201 rs2212201 rs2212201 1 1538 10 1/0 0,218,255 +. (chr22:16914094 A/G) 22 16914094 A G Not on a known gene +. (chr22:16914121 C/A) 22 16914121 C A Not on a known gene +rs4010323 (chr22:16967983 T/C) 22 16967983 T C No Alamut gene - other known genes: ACTR3BP6 ACTR3BP6 +rs4010329 (chr22:16968463 C/T) 22 16968463 C T No Alamut gene - other known genes: ACTR3BP6 ACTR3BP6 +. 22 17062143 T C - KCNMB3P1 6288 Potassium calcium-activated channel subfamily M regulatory beta subunit 3 pseudogene 1 ENST00000472972.1 -1 307 0 substitution exon GRCh37 17062143 17062143 Chr22(GRCh37):g.17062143T>C 131 131 ENST00000472972.1:n.131A>G 2 35 3' 75.6771 7.18076 0.669724 6.81817 75.6771 7.18076 0.669724 6.81738 0 transition A G A>G 0.913 1.416 182 PASS . . . . . . . . . . . . . . . . 0.118421055 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 76.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.8647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.65 0.49 182 ENSG00000239435 . . . dist\x3d32500\x3bdist\x3d9505 dist\x3d612339\x3bdist\x3d9505 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.XI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs55710741 rs55710741 rs55710741 rs55710741 1 1538 10 1/0 0,240,255 +rs2845363 22 17175554 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17175554 17175554 Chr22(GRCh37):g.17175554G>A 2434 2434 ENST00000457911.1:n.2434C>T 9 58 3' 87.4125 9.54795 0.814574 9.48927 87.4125 9.54795 0.814574 9.30102 0 rs2845363 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15584 4776 382 116 666 0 7134 2020 490 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 27 Genomes transition C T C>T 0.972 1.981 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 124 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 124.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . 0.7 0.25 182 ENSG00000241717 TPTEP1 . . . dist\x3d19124\x3bdist\x3d88752 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . rs2845363 0.576 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.58 rs2845363 rs2845363 rs2845363 rs114194072 1 1538 255 1.I 0,0,255 +rs2845370 22 17178204 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17178204 17178204 Chr22(GRCh37):g.17178204G>A 1582 1582 ENST00000457911.1:n.1582C>T 6 -537 5' 75.5367 6.72735 0.308454 7.21695 75.5367 6.72735 0.308454 7.21695 0 rs2845370 yes no Frequency/1000G 2 G 0.000000 0 0.000049 0.000000 0.000000 0.000000 0.000000 0.000000 0.000101 0.000000 0.000000 0.000101 1 0 0 0 0 0 1 0 0 20206 5902 488 180 638 0 9928 2450 620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition C T C>T 0.984 3.999 111 PASS 0.08 0.11 0.1 0.18 0.08 . . . . . . . . . . . 1.0 . . @ 105 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 105.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.9549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . 0.39 0.34 182 ENSG00000241717 TPTEP1 . . . dist\x3d21774\x3bdist\x3d86102 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . rs2845370 0.565 0.543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.949e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.56 rs2845370 rs2845370 rs2845370 rs2845370 1 1538 255 1.I 0,0,255 +rs2845371 22 17178213 A G - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17178213 17178213 Chr22(GRCh37):g.17178213A>G 1573 1573 ENST00000457911.1:n.1573T>C 6 -546 5' 75.5367 6.72735 0.308454 7.21695 75.5367 6.72735 0.308454 7.21695 0 rs2845371 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.066094 0.042400 0.036800 0.117100 0.069600 0.073500 0.000991 0.002544 0.000000 0.000000 0.000000 0.000000 0.000505 0.000000 0.000000 0.002544 20 15 0 0 0 0 5 0 0 20178 5896 480 186 644 0 9906 2448 618 0.100000 0.066667 0.000000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 2 1 0 0 0 0 1 0 0 16 13 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 31 Genomes transition T C T>C 1.000 3.272 111 PASS 0.08 0.11 0.11 0.17 0.08 0.042 0.066 0.073 0.12 0.07 0.037 . . . . . 1.0 . . @ 112 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.9452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0661 . . . 0.32 0.24 182 ENSG00000241717 TPTEP1 . . . dist\x3d21783\x3bdist\x3d86093 . . . 1353 0.0208231 64976 1119 0.0186544 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . rs2845371 0.565 0.543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0010 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.56 rs2845371 rs2845371 rs2845371 rs2845371 1 1538 255 1.I 0,0,255 +rs16981507 22 17178230 C T - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17178230 17178230 Chr22(GRCh37):g.17178230C>T 1556 1556 ENST00000457911.1:n.1556G>A 6 -563 5' 75.5367 6.72735 0.308454 7.21695 75.5367 6.72735 0.308454 7.21695 0 New Acceptor Site 17178228 2.38691 0.135508 73.7154 rs16981507 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.000395 0.000172 0.002075 0.000000 0.000000 0.000000 0.000595 0.000000 0.000000 0.002075 8 1 1 0 0 0 6 0 0 20274 5824 482 192 642 0 10078 2434 622 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 31 Genomes transition G A G>A 0.984 0.205 255 PASS 0.05 0.04 0.01 0.07 0.03 . . . . . . . . . . . 0.44 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . 0.45 0.38 182 ENSG00000241717 TPTEP1 . . . dist\x3d21800\x3bdist\x3d86076 . . . 859 0.0132203 64976 667 0.0111193 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs16981507 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0004 0.0021 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.07 rs16981507 rs16981507 rs16981507 rs16981507 1 1538 10 1/0 0,255,255 +rs5993924 22 17178586 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17178586 17178586 Chr22(GRCh37):g.17178586G>A 1200 1200 ENST00000457911.1:n.1200C>T 6 461 3' 87.3377 9.76835 0.97708 XI.03 87.3377 9.76835 0.97708 XI.03 0 rs5993924 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.001951 0.000000 0.000000 0.000000 0.000805 0.000000 0.000988 0.011933 0.005602 0.011933 46 0 0 0 1 0 11 30 4 23574 7160 592 220 1242 0 11132 2514 714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 0 0 0 1 0 11 30 4 0 0 0 0 0 0 0 0 0 RF 31 Genomes transition C T C>T 0.984 1.739 255 PASS 0.002 0.01 0.02 0.0017 0.03 . 0.0002 . 0.001 . . . . . . . 0.5020576 . . @ 122 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 243.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . 0.0002 . . . 0.44 0.44 182 . TPTEP1 . . . dist\x3d22156\x3bdist\x3d85720 . . . 625 0.00961894 64976 625 0.0104191 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs5993924 0.065 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0020 0 0 0.0008 0.0119 0.0010 0.0056 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 rs5993924 rs5993924 rs5993924 rs118123817 1 1538 10 1/0 0,222,241 +rs5746870 22 17182096 T C - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182096 17182096 Chr22(GRCh37):g.17182096T>C 551 551 ENST00000457911.1:n.551A>G 4 -53 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 14.2853 0 Cryptic Acceptor Weakly Activated 17182077 6.68972 0.177947 78.07 7.15365 0.190501 78.07 rs5746870 no no 0 C 0.000000 0 transition A G A>G 0.803 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.43157893 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.64 0.47 182 ENSG00000241717 . . . dist\x3d2575\x3bdist\x3d45663 dist\x3d25666\x3bdist\x3d82210 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs5746870 0.043 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs5746870 rs5746870 rs5746870 rs5746870 1 1538 10 1/0 0,254,255 +rs5748550 22 17182111 A G - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182111 17182111 Chr22(GRCh37):g.17182111A>G 536 536 ENST00000457911.1:n.536T>C 4 -68 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 13.9315 0 rs5748550 no no 0 G 0.000000 0 transition T C T>C 1.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.4019608 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.5596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.51 182 ENSG00000241717 . . . dist\x3d2590\x3bdist\x3d45648 dist\x3d25681\x3bdist\x3d82195 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs5748550 0.043 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs5748550 rs5748550 rs5748550 rs199845257 1 1538 10 1/0 0,250,255 +rs5748551 22 17182117 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182117 17182117 Chr22(GRCh37):g.17182117G>A 530 530 ENST00000457911.1:n.530C>T 4 -74 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 13.4971 0 Cryptic Acceptor Strongly Activated 17182118 2.33216 0.00048 65.8963 3.31251 0.002366 65.8963 rs5748551 no no 0 G 0.000000 0 transition C T C>T 1.000 3.757 255 PASS . . . . . . . . . . . . . . . . 0.38613862 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 101.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.7425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.64 0.52 182 ENSG00000241717 . . . dist\x3d2596\x3bdist\x3d45642 dist\x3d25687\x3bdist\x3d82189 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs5748551 0.043 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . II.46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs5748551 rs5748551 rs5748551 rs372408065 1 1538 10 1/0 0,250,255 +rs200492035 22 17182144 A C - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182144 17182144 Chr22(GRCh37):g.17182144A>C 503 503 ENST00000457911.1:n.503T>G 4 59 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.46809 0 rs200492035 no no 0 A 0.000000 0 transversion T G T>G 0.992 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.408 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 125.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.61 0.46 182 ENSG00000241717 . . . dist\x3d2623\x3bdist\x3d45615 dist\x3d25714\x3bdist\x3d82162 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200492035 0.326 0.312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 . rs71312074 rs200492035 rs200492035 1 1538 10 1/0 0,242,255 +rs201482413 22 17182147 G T - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182147 17182147 Chr22(GRCh37):g.17182147G>T 500 500 ENST00000457911.1:n.500C>A 4 56 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.0953 0 rs201482413 no no 0 G 0.000000 0 transversion C A C>A 0.992 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.37903225 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 124.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.65 0.44 182 ENSG00000241717 . . . dist\x3d2626\x3bdist\x3d45612 dist\x3d25717\x3bdist\x3d82159 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs201482413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201482413 rs201482413 1 1538 10 1/0 0,240,255 +rs200084034 22 17182148 C T - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182148 17182148 Chr22(GRCh37):g.17182148C>T 499 499 ENST00000457911.1:n.499G>A 4 55 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 8.78783 0 rs200084034 no no 0 C 0.000000 0 transition G A G>A 1.000 3.757 255 PASS . . . . . . . . . . . . . . . . 0.39259258 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 135.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.9658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.61 0.5 182 ENSG00000241717 . . . dist\x3d2627\x3bdist\x3d45611 dist\x3d25718\x3bdist\x3d82158 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200084034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200084034 rs200084034 1 1538 10 1/0 0,238,255 +rs4008538 22 17182168 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182168 17182168 Chr22(GRCh37):g.17182168G>A 479 479 ENST00000457911.1:n.479C>T 4 35 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 8.79271 0 rs4008538 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.38235295 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 136.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.66 0.49 182 ENSG00000241717 . . . dist\x3d2647\x3bdist\x3d45591 dist\x3d25738\x3bdist\x3d82138 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs4008538 0.359 0.341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.36 rs4008538 rs4008538 rs4008538 rs150626147 1 1538 10 1/0 0,237,255 +rs4008539 22 17182236 C A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution intron GRCh37 17182236 17182236 Chr22(GRCh37):g.17182236C>A 445-34 445-34 ENST00000457911.1:n.445-34G>T p.? p.? 4 3 -34 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.29485 0 Cryptic Acceptor Strongly Activated 17182223 6.98537 0.032305 77.0626 7.24933 0.183457 82.6592 rs4008539 no no 0 C 0.000000 0 transversion G T G>T 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 90.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.49 0.29 182 ENSG00000241717 . . . dist\x3d2715\x3bdist\x3d45523 dist\x3d25806\x3bdist\x3d82070 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs4008539 0.109 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.11 rs4008539 rs4008539 rs4008539 rs4008539 1 1538 10 1/0 0,255,255 +rs9605145 22 17264904 A G - XKR3 28778 XK related 3 NM_001318251.1 -1 1693 1380 NP_001305180.1 Q5GH77 substitution synonymous exon GRCh37 17264904 17264904 Chr22(GRCh37):g.17264904A>G 985 985 NM_001318251.1:c.985T>C p.Leu329= p.Leu329Leu 4 611674 396 3' 82.6571 8.06283 0.821742 3.91938 82.6571 8.06283 0.821742 3.91938 0 rs9605145 yes no Frequency/HapMap/1000G 3 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 209314 12012 31742 7750 13262 25814 93660 20400 4674 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 56 Exomes COSM6237784 Liver 0.000422 2371 transition T C T>C 0.984 0.609 L Leu TTG 0.127 L Leu CTG 0.404 329 255 PASS . . . . . . . . . . . ENSG00000172967:ENST00000331428:exon4:c.T985C:p.L329L . XKR3:NM_175878:exon4:c.T985C:p.L329L . . 0.5060241 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L329|XKR3|mRNA|CODING|NM_175878|NM_175878.ex.4) . . . . . . . 0.4860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.3 182 ENSG00000172967 XKR3 XKR3 . . . . . . 780 0.0120044 64976 780 0.013003 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9605145 0.348 0.312 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.35 rs9605145 rs9605145 rs9605145 rs115923704 1 1538 10 1/0 0,255,255 +rs9605146 22 17265194 G A - XKR3 28778 XK related 3 NM_001318251.1 -1 1693 1380 NP_001305180.1 Q5GH77 substitution missense exon GRCh37 17265194 17265194 Chr22(GRCh37):g.17265194G>A 695 695 NM_001318251.1:c.695C>T p.Pro232Leu p.Pro232Leu 4 611674 106 3' 82.6571 8.06283 0.821742 3.91938 82.6571 8.06283 0.821742 3.91938 0 rs9605146 yes no Frequency/HapMap/1000G 3 0.000000 0 CM1413688 Acute respiratory distress syndrome, association with 25372662 DP transition C T C>T 0.008 0.770 P Pro CCG 0.115 L Leu CTG 0.404 232 11 9 Zebrafish -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 113.73 IV.86 Tolerated 1 II.91 255 PASS 0.06 0.03 0.02 0.02 0.04 . . . . . . ENSG00000172967:ENST00000331428:exon4:c.C695T:p.P232L . XKR3:NM_175878:exon4:c.C695T:p.P232L . . 0.36 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.345 . @ . . . . . 1 0.198 . . 50.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P232L|XKR3|mRNA|CODING|NM_175878|NM_175878.ex.4) . . . . . . . -0.8974 -1.014 -0.897 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.605 . . exonic exonic exonic . . 0.111 @ . . . 0.49 0.35 182 ENSG00000172967 XKR3 XKR3 . . . 0.999 0.387 . 738 0.011358 64976 738 0.0123029 59986 Uncertain_significance . 0 . 0.229 . . . . T 0.087 0.004 . . 37 . 0.047 . . 0.129 . . . 0.357 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.857 . . 0 0 0 0 1 0 . 0.315 . . 0.184 . . . . . . 0 0.107 . . . . . 0.084 . 0.401 . HET 1 rs9605146 0.424 0.406 . . . . . 0.034340659340659344 0.05894308943089431 0.016574585635359115 0.019230769230769232 0.03825857519788918 III.35 . ENST00000331428 0.771 -0.57 . 0.650000 Q5GH77 . . . . . 0.153 . . . . . . . . . . . . . . . . . . . . . . 0.212 . -0.093 -0.093000 . . 0.650000 . . 1.0E-255 0.051 0.212 . 0.043 0.120 . 0.364 . 0.271 -0.093 0.562 0.42 rs9605146 rs9605146 rs9605146 rs114989947 1 1538 10 1/0 0,255,255 +rs367657501 22 18301202 C T - MICAL3 24694 Microtubule associated monooxygenase, calponin and LIM domain containing 3 NM_015241.2 -1 9445 6009 NP_056056.2 Q7RTP6 substitution missense exon GRCh37 18301202 18301202 Chr22(GRCh37):g.18301202C>T 4225 4225 NM_015241.2:c.4225G>A p.Asp1409Asn p.Asp1409Asn 26 608882 694 3' 86.1685 12.1767 0.987042 X.88 86.1685 12.1767 0.987042 X.88 0 rs367657501 yes no Frequency 1 C 0.000000 0 0.000015 0.000000 0.000029 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000029 4 0 1 0 0 0 3 0 0 274904 23652 34402 10108 18838 30778 125080 25612 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8289 3888 12177 1 0 1 0.000120627 0 8.21153e-05 0.000120627 0 8.21153e-05 65 transition G A G>A 0.402 3.595 D Asp GAC 0.539 N Asn AAC 0.536 1409 12 4 Dog 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.21 III.35 bad 1.898E-3 0.0003791 255 PASS . . . . . . . . . . . ENSG00000243156:ENST00000441493:exon26:c.G4225A:p.D1409N . MICAL3:NM_015241:exon26:c.G4225A:p.D1409N . . 0.53333336 . . @ 88 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.571 . . 165.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1409N|MICAL3|mRNA|CODING|NM_015241|NM_015241.ex.26) . 0.0001 0.0001 . 0.0001 0.0001 . -0.1308 -0.172 -0.131 c . . . . . 2.402e-05 . . . 0 2.325e-05 0 0 0 5.108e-05 0 0 0 1.942e-05 0 0 0 3.8e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.656 . . exonic exonic exonic . . 0.526 @ . . . 0.38 0.34 182 ENSG00000243156 MICAL3 MICAL3 . . . 0.999 0.398 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.758 0.091 . . 37 . 0.538 . . 0.636 . . . 0.562 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.287 . . 0 0 0 0 0 0 . 0.396 . . 0.282 . . . . . . 0 0.721 . . . . . 0.863 . 0.003 . HET 0.01 rs367657501 . . . . . . . . . . . . 17.0491 0.0 ENST00000441493 IV.42 IV.42 . 0.020000 Q7RTP6 . . . 0.000082 . 0.254 . . IV.42 0 1.23e-05 2.979e-05 0 0 0 1.817e-05 0 0 0 3.231e-05 0 0 0 0 6.672e-05 0 . . 0.465 . 2.013 2.013000 . . 0.020000 . . 1.0E-255 0.991 0.370 . 0.043 0.052 . 0.648 . 0.132 2.013 0.871 0.0001 . . rs367657501 rs367657501 1 1538 10 1/0 0,232,235 +. (chr22:18666678 T/G) 22 18666678 T G Not on a known gene +. (chr22:18668666 C/T) 22 18668666 C T Not on a known gene +rs62230881 (chr22:18679019 G/C) 22 18679019 G C Not on a known gene +. (chr22:18682494 G/A) 22 18682494 G A Not on a known gene +. (chr22:18688509 A/G) 22 18688509 A G Not on a known gene +. (chr22:18688512 A/T) 22 18688512 A T Not on a known gene +. (chr22:18688514 C/G) 22 18688514 C G Not on a known gene +. (chr22:18688523 C/A) 22 18688523 C A Not on a known gene +rs201264349 (chr22:18688537 C/T) 22 18688537 C T Not on a known gene +. (chr22:18688545 G/C) 22 18688545 G C Not on a known gene +rs199640204 (chr22:18688548 T/A) 22 18688548 T A Not on a known gene +rs200736805 (chr22:18688554 C/A) 22 18688554 C A Not on a known gene +. (chr22:18688570 A/G) 22 18688570 A G Not on a known gene +. (chr22:18688579 C/G) 22 18688579 C G Not on a known gene +rs376674847 (chr22:18688583 A/C) 22 18688583 A C Not on a known gene +rs201928038 (chr22:18688595 G/A) 22 18688595 G A Not on a known gene +. (chr22:18688606 G/T) 22 18688606 G T Not on a known gene +. (chr22:18688612 A/C) 22 18688612 A C Not on a known gene +rs374447696 (chr22:18688617 C/T) 22 18688617 C T Not on a known gene +. (chr22:18688619 C/G) 22 18688619 C G Not on a known gene +. (chr22:18688627 T/C) 22 18688627 T C Not on a known gene +. (chr22:18688634 C/T) 22 18688634 C T Not on a known gene +. (chr22:18688635 T/A) 22 18688635 T A Not on a known gene +rs200099951 (chr22:18688645 T/C) 22 18688645 T C Not on a known gene +. (chr22:18688652 A/C) 22 18688652 A C Not on a known gene +. (chr22:18688657 G/A) 22 18688657 G A Not on a known gene +. (chr22:18688665 G/A) 22 18688665 G A Not on a known gene +rs62231662 (chr22:18688670 C/G) 22 18688670 C G Not on a known gene +. (chr22:18688685 A/G) 22 18688685 A G Not on a known gene +. 22 18721475 G A - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution exon GRCh37 18721475 18721475 Chr22(GRCh37):g.18721475G>A 49 49 NR_136561.1:n.49G>A 1 -93 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 18721486 3.33092 0.61293 7.48711 0.565101 78.6594 0.000133 0.000000 0.000000 0.000000 0.000000 0.000000 0.000280 0.000000 0.000000 0.000280 4 0 0 0 0 0 4 0 0 30166 8692 834 274 1616 0 14296 3480 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 1222 Genomes transition G A G>A 0.000 -14.080 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intergenic . . . @ . . . 0.6 0.33 182 ENSG00000182824 AK302545 . ENST00000342888:c.-65G>A uc011agn.2:c.-65G>A dist\x3d61313\x3bdist\x3d39727 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 22 18721482 A G - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution exon GRCh37 18721482 18721482 Chr22(GRCh37):g.18721482A>G 56 56 NR_136561.1:n.56A>G 1 -86 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 transition A G A>G 0.000 -14.080 196 PASS . . . . . . . . . . . . . . . . 0.14925373 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 67.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . ENST00000342888:c.-58A>G uc011agn.2:c.-58A>G dist\x3d61320\x3bdist\x3d39720 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 22 18721490 G C - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution exon GRCh37 18721490 18721490 Chr22(GRCh37):g.18721490G>C 64 64 NR_136561.1:n.64G>C 1 -78 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.640134 0 transversion G C G>C 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . ENST00000342888:c.-50G>C uc011agn.2:c.-50G>C dist\x3d61328\x3bdist\x3d39712 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 22 18734800 C T - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18734800 18734800 Chr22(GRCh37):g.18734800C>T 474+153 474+153 NR_136561.1:n.474+153C>T p.? p.? 7 7 153 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 transition C T C>T 0.028 0.205 207 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 33.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d74638\x3bdist\x3d26402 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs368242676 22 18736829 T C - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18736829 18736829 Chr22(GRCh37):g.18736829T>C 474+2182 474+2182 NR_136561.1:n.474+2182T>C p.? p.? 7 7 2182 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 rs368242676 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.732 190 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d76667\x3bdist\x3d24373 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs368242676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . rs1210208 rs368242676 rs368242676 1 1538 10 1/0 0,255,255 +. 22 18737022 C G - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18737022 18737022 Chr22(GRCh37):g.18737022C>G 475-2360 475-2360 NR_136561.1:n.475-2360C>G p.? p.? 8 7 -2360 3' 90.7446 8.98709 0.574351 9.99341 90.7446 8.98709 0.574351 9.99341 0 0.000476 0.001096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001096 3 3 0 0 0 0 0 0 0 6304 2736 114 70 720 0 2158 336 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 53 Genomes transversion C G C>G 0.000 0.286 249 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d76860\x3bdist\x3d24180 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0005 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 18737041 G A - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18737041 18737041 Chr22(GRCh37):g.18737041G>A 475-2341 475-2341 NR_136561.1:n.475-2341G>A p.? p.? 8 7 -2341 3' 90.7446 8.98709 0.574351 9.99341 90.7446 8.98709 0.574351 9.99341 0 0.000122 0.000255 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000255 1 1 0 0 0 0 0 0 0 8208 3916 160 64 794 0 2604 456 214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition G A G>A 0.126 1.093 242 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 17.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d76879\x3bdist\x3d24161 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 18737486 C T - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18737486 18737486 Chr22(GRCh37):g.18737486C>T 475-1896 475-1896 NR_136561.1:n.475-1896C>T p.? p.? 8 7 -1896 3' 90.7446 8.98709 0.574351 9.99341 90.7446 8.98709 0.574351 9.99341 0 0.002568 0.004470 0.002740 0.000000 0.000000 0.000000 0.001780 0.003160 0.001136 0.004470 71 35 2 0 0 0 24 9 1 27644 7830 730 290 1580 0 13486 2848 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 35 2 0 0 0 24 9 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition C T C>T 0.008 -0.198 169 PASS . . . . . . . . . . . . . . . . 0.12179487 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 156.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d77324\x3bdist\x3d23716 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0045 0.0026 0.0027 0 0 0.0032 0.0018 0.0011 . . . . . . . . . . . 1.0E-169 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +. 22 18761942 A G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution intron GRCh37 18761942 18761942 Chr22(GRCh37):g.18761942A>G 1642+39 1642+39 NR_003267.1:n.1642+39T>C p.? p.? 11 11 39 5' 81.3153 8.13727 0.914056 12.0471 81.3153 8.13727 0.914056 12.1397 0 transition T C T>C 0.000 -0.844 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . INTRON(MODIFIER||||GGT3P|Non-coding_transcript|NON_CODING|NR_003267|) . . . . . . . -0.3112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 22 18761975 A G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution intron GRCh37 18761975 18761975 Chr22(GRCh37):g.18761975A>G 1642+6 1642+6 NR_003267.1:n.1642+6T>C p.? p.? 11 11 6 5' 81.3153 8.13727 0.914056 12.0471 75.5367 6.72735 0.863321 10.1048 -0.0999454 transition T C T>C 0.520 0.690 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||GGT3P|Non-coding_transcript|NON_CODING|NR_003267|) . . . . . . . 0.5192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 22 18761991 T G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18761991 18761991 Chr22(GRCh37):g.18761991T>G 1632 1632 NR_003267.1:n.1632A>C 11 -11 5' 81.3153 8.13727 0.914056 12.0471 81.3153 8.13727 0.914056 XI.75 0 transversion A C A>C 0.000 1.416 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R544S|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.11) . . . . . . . 0.1299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.4 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs3984391 rs3984391 rs3984391 rs3984391 1 1538 10 1/0 0,247,255 +. 22 18762074 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18762074 18762074 Chr22(GRCh37):g.18762074G>A 1549 1549 NR_003267.1:n.1549C>T 11 20 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.460382 X.15 0.0230596 transition C T C>T 1.000 1.255 255 PASS . . . . . . . . . . . . . . . . 0.52272725 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H517Y|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.11) . . . . . . . 0.6304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 18762228 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18762228 18762228 Chr22(GRCh37):g.18762228G>A 1497 1497 NR_003267.1:n.1497C>T 10 -33 5' 84.8076 9.98517 0.930622 10.708 84.8076 9.98517 0.930622 9.93894 0 transition C T C>T 0.992 1.820 211 PASS . . . . . . . . . . . . . . . . 0.18987341 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G499|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.10) . . . . . . . 0.4334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.56 0.49 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs1062459 rs1062459 rs1062459 rs1062459 1 1538 10 1/0 0,244,255 +rs142518539 22 18766254 C T - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766254 18766254 Chr22(GRCh37):g.18766254C>T 1203 1203 NR_003267.1:n.1203G>A 8 -12 5' 91.9265 X.44 0.995952 X.85 91.9265 X.44 0.995952 X.84 0 Cryptic Donor Strongly Activated 18766252 2.89923 0.007742 67.272 3.24636 0.027404 70.02 rs142518539 no no 0 C 0.000000 0 transition G A G>A 1.000 1.013 253 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 15.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W401*|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.8) . . . . . . . 0.3552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.45 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142518539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . rs142518539 rs142518539 1 1538 10 1/0 0,255,255 +rs879123244 22 18766302 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766302 18766302 Chr22(GRCh37):g.18766302G>A 1155 1155 NR_003267.1:n.1155C>T 8 -60 5' 91.9265 X.44 0.995952 X.85 91.9265 X.44 0.995952 10.1058 0 rs879123244 no no 0 G 0.000000 0 transition C T C>T 1.000 2.223 253 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S385|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.8) . . . . . . . 0.7696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879054978 22 18766357 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766357 18766357 Chr22(GRCh37):g.18766357G>A 1100 1100 NR_003267.1:n.1100C>T 8 23 3' 78.7424 5.81816 0.053305 3.42046 78.7424 5.81816 0.053305 3.43413 0 rs879054978 no no 0 G 0.000000 0 transition C T C>T 0.992 0.044 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 13.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A367V|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.8) . . . . . . . -0.1739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879185732 22 18766365 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766365 18766365 Chr22(GRCh37):g.18766365G>A 1092 1092 NR_003267.1:n.1092C>T 8 15 3' 78.7424 5.81816 0.053305 3.42046 78.7424 5.81816 0.071081 3.21028 0.111159 rs879185732 no no 0 G 0.000000 0 0.000048 0.000000 0.001618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001618 1 0 1 0 0 0 0 0 0 20704 5834 618 186 858 0 9754 2808 646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition C T C>T 0.236 0.367 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P364|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.8) . . . . . . . 0.1404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.83e-05 0.0016 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199524818 22 18766947 C G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766947 18766947 Chr22(GRCh37):g.18766947C>G 1033 1033 NR_003267.1:n.1033G>C 7 -45 5' 95.331 X.37 0.994427 13.6895 95.331 X.37 0.994427 13.6349 0 rs199524818 yes no Frequency/1000G 2 C 0.000000 0 transversion G C G>C 0.984 1.497 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 33.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G345R|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.7) . . . . . . . -0.0463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0010 . . . 0.57 0.46 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199524818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs4051647 rs4051647 rs4051647 rs199524818 1 1538 10 1/0 0,255,255 +rs62229896 22 18767057 A G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution splice site GRCh37 18767057 18767057 Chr22(GRCh37):g.18767057A>G 928-5 928-5 NR_003267.1:n.928-5T>C p.? p.? 7 6 -5 3' 88.576 8.66421 0.785676 9.08489 85.0304 7.44078 0.749096 8.19409 -0.0759309 rs62229896 no no 0 A 0.000000 0 transition T C T>C 0.118 0.448 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||GGT3P|Non-coding_transcript|NON_CODING|NR_003267|) . . . . . . . -0.2287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.34 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62229896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62229896 rs62229896 rs62229896 rs147087180 1 1538 10 1/0 0,255,255 +rs62229897 22 18767059 T C - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution intron GRCh37 18767059 18767059 Chr22(GRCh37):g.18767059T>C 928-7 928-7 NR_003267.1:n.928-7A>G p.? p.? 7 6 -7 3' 88.576 8.66421 0.785676 9.08489 88.576 VIII.05 0.748444 8.98353 -0.0263267 rs62229897 no no 0 T 0.000000 0 transition A G A>G 0.008 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.34375 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||GGT3P|Non-coding_transcript|NON_CODING|NR_003267|) . . . . . . . -0.4042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.57 0.41 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62229897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62229897 rs62229897 rs62229897 rs146912081 1 1538 10 1/0 0,255,255 +rs189425726 22 18775061 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18775061 18775061 Chr22(GRCh37):g.18775061G>A 559 559 NR_003267.1:n.559C>T 4 -18 5' 84.954 9.04032 0.996223 7.86416 84.954 9.04032 0.996223 7.52994 0 rs189425726 no no 0 G 0.000000 0 transition C T C>T 0.866 2.950 222 PASS . . . . . . . . . . . . . . . . 0.22 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R187W|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.4) . . . . . . . 0.6739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.44 0.2 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189425726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs189425726 rs189425726 1 1538 10 1/0 0,220,255 +rs180803714 22 18775105 G T - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18775105 18775105 Chr22(GRCh37):g.18775105G>T 515 515 NR_003267.1:n.515C>A 4 20 3' 0 0 3,00E-05 0 0 0 2,00E-05 0 -0.333333 rs180803714 no no 0 G 0.000000 0 transversion C A C>A 0.921 -1.489 175 PASS . . . . . . . . . . . . . . . . 0.10294118 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 272.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gAg|A172E|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.4) . . . . . . . 0.0663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.49 0.25 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs180803714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs180803714 rs180803714 1 1538 10 1/0 0,183,255 +rs200326813 (chr22:18835523 T/A) 22 18835523 T A Not on a known gene +. 22 18863239 G A - LINC01663 52451 Long intergenic non-protein coding RNA 1663 NR_136571.1 -1 3190 0 substitution intron GRCh37 18863239 18863239 Chr22(GRCh37):g.18863239G>A 436+153 436+153 NR_136571.1:n.436+153C>T p.? p.? 7 7 153 5' 79.3529 8.77984 0.976494 1.63173 79.3529 8.77984 0.976494 1.63173 0 transition C T C>T 0.000 -0.117 219 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d17086\x3bdist\x3d30302 dist\x3d13945\x3bdist\x3d30497 dist\x3d83765\x3bdist\x3d30497 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 18863387 C T - LINC01663 52451 Long intergenic non-protein coding RNA 1663 NR_136571.1 -1 3190 0 substitution splice site GRCh37 18863387 18863387 Chr22(GRCh37):g.18863387C>T 436+5 436+5 NR_136571.1:n.436+5G>A p.? p.? 7 7 5 5' 79.3529 8.77984 0.976494 1.63173 67.2013 0.648973 0.359496 0 -0.570356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64230 5410 13010 2402 6768 7240 25804 1672 1924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 88 Exomes transition G A G>A 0.051 0.609 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d17234\x3bdist\x3d30154 dist\x3d14093\x3bdist\x3d30349 dist\x3d83913\x3bdist\x3d30349 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs376319831 22 18907261 T C - PRODH 9453 Proline dehydrogenase (oxidase) 1 NM_016335.4 -1 2408 1803 NP_057419.4 substitution synonymous exon GRCh37 18907261 18907261 Chr22(GRCh37):g.18907261T>C 1062 1062 NM_016335.4:c.1062A>G p.Leu354= p.Leu354Leu 10 606810 -43 5' 89.5524 9.59704 0.985726 14.5156 89.5524 9.59704 0.985726 14.9108 0 Proline dehydrogenase rs376319831 yes no Frequency 1 0.000000 0 0.000202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000340 0.000465 0.000155 0.000465 56 0 0 0 0 0 43 12 1 276762 23972 34392 10144 18854 30742 126418 25784 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 0 0 0 0 0 43 12 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 89 transition A G A>G 0.701 -0.117 L Leu CTA 0.070 L Leu CTG 0.404 354 255 PASS . . . . . . . . . . . . . . . . 0.5565217 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 1.0166 . . . . . . . . 1.658e-04 . . . 0 0.0002 0 0 0.0005 0.0003 0 0 0 9.65e-05 0 0 0.0003 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.51 182 ENSG00000100033 PRODH PRODH . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376319831 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0 0.0002 0 0 0 0.0005 0.0003 0.0002 0 0 0.0005 0 0 0 0 0.0010 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs376319831 rs376319831 1 1538 10 1/0 0,255,255 +. 22 19189003 A AC - CLTCL1 2093 Clathrin, heavy chain-like 1 NM_007098.3 -1 5515 4923 NP_009029.3 P53675 duplication frameshift exon GRCh37 19189003 19189004 Chr22(GRCh37):g.19189004dup 3601 3601 NM_007098.3:c.3601dup p.Val1201Glyfs*19 p.Val1201Glyfs*19 23 601273 0 3' 0 0 0 0 0 0 0 0 0 New Acceptor Site 19189003 6.59412 0.884838 80.9017 Clathrin, heavy chain/VPS, 7-fold repeat Clathrin, heavy chain rs11386977 yes no Frequency/1000G 2 benign 0.000000 0 0.999800 0.999200 1.000000 1.000000 1.000000 1.000000 0.999975 0.999958 1.000000 1.000000 1.000000 0.999967 0.999960 1.000000 1.000000 1.000000 275143 23981 34274 10102 18846 30733 125013 25768 6426 275150 23982 34274 10102 18846 30734 125018 25768 6426 0.999949 0.999917 1.000000 1.000000 1.000000 0.999935 0.999920 1.000000 1.000000 137568 11990 17137 5051 9423 15366 62504 12884 3213 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 6 6 7956 3748 11704 0 0.0015983 0.000512383 1 0.998402 0.999488 75 RCV000455507.1 germline clinical testing Benign 1 not specified COSM5713380 Central nervous system 0.000826 2422 G 255 Pass . . . . . 1. 1. 1. 1. 1. 1. . . . . . 0.98913044 . . . 91 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 92 . . . . . . 1. 1. 1. . . . . . . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1 1 0.9999 0.9999 0.9999 1 1 1 0.9999 1 0.9999 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000070371 CLTCL1 CLTCL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs11386977 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1.0000 1 1.0000 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72564418 rs11386977 rs11386977 1 1538 255 1.I 0,0,255 +rs151117263 22 19951117 G C - COMT 2228 Catechol-O-methyltransferase NM_000754.3 1 2304 816 NP_000745.1 P21964 substitution missense exon GRCh37 19951117 19951117 Chr22(GRCh37):g.19951117G>C 318 318 NM_000754.3:c.318G>C p.Glu106Asp p.Glu106Asp 4 116790 29 3' 74.5374 5.78752 0.80888 X.32 74.5374 5.78752 0.80888 X.46 0 Cryptic Acceptor Strongly Activated 19951115 1.13852 0.002536 72.0419 2.17411 0.005562 72.0419 O-methyltransferase, family 3 Catechol O-methyltransferase, eukaryotic rs151117263 yes no Frequency 1 G 0.000000 0 0.000122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000171 0.000456 0.000183 0.000456 30 0 0 0 0 0 19 10 1 244900 15234 33570 9834 17220 30778 110858 21934 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 19 10 1 0 0 0 0 0 0 0 0 0 PASS 79 Exomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 50 transversion G C G>C 0.898 1.416 E Glu GAG 0.583 D Asp GAC 0.539 106 14 14 C. savignyi 2 2 2 0.92 I.38 12.III 13 83 54 45 C35 0.00 44.60 Deleterious 0 III.43 bad 1.379E-3 4.386E-5 255 PASS . . . . . . . . . . . . . . . . 0.43283582 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.216 . @ . . . . . 1 0.384 . . 134.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.5615 -0.554 -0.561 c . . . . . 1.581e-04 . . . 0 0.0001 0 0 0.0005 0.0002 0 0 0 0.0002 0 0 0.0006 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.254 @ . . . 0.21 0.33 182 ENSG00000093010 COMT COMT . . . 1.000 0.747 . 10 0.000153903 64976 10 0.000166706 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.371 0.016 . . 37 . 0.185 . . 0.061 . . . 0.557 0.480 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.214 . . 0.231 . . . . . . 0 0.324 . . . . . 0.303 . 0.764 . HET 0.02 rs151117263 . . . . . . . . . . . . 8.1815 0.0 . V.25 2.0 . . . . . . 0.000154 . 0.427 . . . 0 0.0001 0 0 0 0.0005 0.0002 0.0002 0 . . . . . . . . . . 0.980 . 0.312 0.312000 . . . . . 1.0E-255 0.743 0.288 . 0.122 0.025 . 0.296 . 0.213 0.312 0.917 0.0002 . . rs151117263 rs151117263 1 1538 10 1/0 0,240,255 +rs151117263 22 19951117 G C - MIR4761 41591 MicroRNA 4761 NR_039918.1 1 82 0 substitution upstream GRCh37 19951117 19951117 Chr22(GRCh37):g.19951117G>C -159 -159 NR_039918.1:n.-159G>C p.? p.? 1 rs151117263 yes no Frequency 1 G 0.000000 0 0.000122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000171 0.000456 0.000183 0.000456 30 0 0 0 0 0 19 10 1 244900 15234 33570 9834 17220 30778 110858 21934 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 19 10 1 0 0 0 0 0 0 0 0 0 PASS 79 Exomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 50 transversion G C G>C 0.898 1.416 255 PASS . . . . . . . . . . . . . . . . 0.43283582 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.216 . @ . . . . . 1 0.384 . . 134.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.5615 -0.554 -0.561 c . . . . . 1.581e-04 . . . 0 0.0001 0 0 0.0005 0.0002 0 0 0 0.0002 0 0 0.0006 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.254 @ . . . 0.21 0.33 182 ENSG00000093010 COMT COMT . . . 1.000 0.747 . 10 0.000153903 64976 10 0.000166706 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.371 0.016 . . 37 . 0.185 . . 0.061 . . . 0.557 0.480 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.214 . . 0.231 . . . . . . 0 0.324 . . . . . 0.303 . 0.764 . HET 0.02 rs151117263 . . . . . . . . . . . . 8.1815 0.0 . V.25 2.0 . . . . . . 0.000154 . 0.427 . . . 0 0.0001 0 0 0 0.0005 0.0002 0.0002 0 . . . . . . . . . . 0.980 . 0.312 0.312000 . . . . . 1.0E-255 0.743 0.288 . 0.122 0.025 . 0.296 . 0.213 0.312 0.917 0.0002 . . rs151117263 rs151117263 1 1538 10 1/0 0,240,255 +rs774972671 22 20102790 G A - MIR6816 50256 MicroRNA 6816 NR_106874.1 -1 66 0 substitution upstream GRCh37 20102790 20102790 Chr22(GRCh37):g.20102790G>A -516 -516 NR_106874.1:n.-516C>T p.? p.? 1 rs774972671 yes no Frequency 1 G 0.000000 0 transition C T C>T 1.000 2.304 255 PASS . . . . . . . . . . . . . . . . 0.4878049 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 1 0.985 . . 82.0 . . . . . . . . . . 0.6827 0.607 0.683 c . . . . . 7.903e-06 . . . 0 1.147e-05 0 0 0 2.487e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.515 @ . . . . . . ENSG00000099899 TRMT2A TRMT2A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.862 0.190 . . 37 . 0.695 . . 0.747 . . . 0.895 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.905 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 2 0.721 . . . . . 0.535 . 0.957 . HET 0 rs774972671 . . . . . . . . . . . . XII.39 . . 5.IV IV.36 . 0.000000 . 0.0716 0.328 . . . 0.625 . . IV.36 . . . . . . . . . . . . . . . . . . . 0.442 . 1.226 1.226000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.536 0.998 . 0.654 . 0.713 1.226 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs774972671 22 20102790 G A - RANBP1 9847 RAN binding protein 1 NM_001278639.1 1 1389 837 NP_001265568.1 substitution upstream GRCh37 20102790 20102790 Chr22(GRCh37):g.20102790G>A -918 -918 NM_001278639.1:c.-918G>A p.? p.? 1 601180 -1164 5' 79.0152 7.19599 0.914366 10.1052 79.0152 7.19599 0.914366 10.1052 0 rs774972671 yes no Frequency 1 G 0.000000 0 transition G A G>A 1.000 2.304 255 PASS . . . . . . . . . . . . . . . . 0.4878049 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 1 0.985 . . 82.0 . . . . . . . . . . 0.6827 0.607 0.683 c . . . . . 7.903e-06 . . . 0 1.147e-05 0 0 0 2.487e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.515 @ . . . . . . ENSG00000099899 TRMT2A TRMT2A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.862 0.190 . . 37 . 0.695 . . 0.747 . . . 0.895 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.905 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 2 0.721 . . . . . 0.535 . 0.957 . HET 0 rs774972671 . . . . . . . . . . . . XII.39 . . 5.IV IV.36 . 0.000000 . 0.0716 0.328 . . . 0.625 . . IV.36 . . . . . . . . . . . . . . . . . . . 0.442 . 1.226 1.226000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.536 0.998 . 0.654 . 0.713 1.226 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs774972671 22 20102790 G A - TRMT2A 24974 TRNA methyltransferase 2 homolog A NM_022727.5 -1 2964 1878 NP_073564.3 Q8IZ69 substitution missense exon GRCh37 20102790 20102790 Chr22(GRCh37):g.20102790G>A 889 889 NM_022727.5:c.889C>T p.Arg297Trp p.Arg297Trp 4 611151 -2 5' 81.7046 9.35132 0.986823 7.64956 82.1078 8.29716 0.97847 6.40771 -0.0387528 rs774972671 yes no Frequency 1 G 0.000000 0 transition C T C>T 1.000 2.304 R Arg CGG 0.207 W Trp TGG 1.000 297 12 10 Fruitfly -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 113.55 46.61 Deleterious 0.01 II.85 255 PASS . . . . . . . . . . . . . . . . 0.4878049 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 1 0.985 . . 82.0 . . . . . . . . . . 0.6827 0.607 0.683 c . . . . . 7.903e-06 . . . 0 1.147e-05 0 0 0 2.487e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.515 @ . . . . . . ENSG00000099899 TRMT2A TRMT2A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.862 0.190 . . 37 . 0.695 . . 0.747 . . . 0.895 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.905 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 2 0.721 . . . . . 0.535 . 0.957 . HET 0 rs774972671 . . . . . . . . . . . . XII.39 . . 5.IV IV.36 . 0.000000 . 0.0716 0.328 . . . 0.625 . . IV.36 . . . . . . . . . . . . . . . . . . . 0.442 . 1.226 1.226000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.536 0.998 . 0.654 . 0.713 1.226 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs369110394 (chr22:20326396 T/C) 22 20326396 T C Not on a known gene +. (chr22:20326398 G/A) 22 20326398 G A Not on a known gene +rs372835520 (chr22:20326416 C/T) 22 20326416 C T Not on a known gene +rs879130068 (chr22:20326429 T/G) 22 20326429 T G Not on a known gene +. (chr22:20326436 A/G) 22 20326436 A G Not on a known gene +. (chr22:20326469 T/G) 22 20326469 T G Not on a known gene +. (chr22:20326486 C/T) 22 20326486 C T Not on a known gene +rs76368489 (chr22:20326511 T/C) 22 20326511 T C Not on a known gene +rs373965546 (chr22:20326536 C/G) 22 20326536 C G Not on a known gene +rs376892937 (chr22:20326544 G/A) 22 20326544 G A Not on a known gene +rs371429968 (chr22:20326558 G/T) 22 20326558 G T Not on a known gene +rs79667573 (chr22:20326569 T/A) 22 20326569 T A Not on a known gene +rs199947698 22 20339058 C G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution intron GRCh37 20339058 20339058 Chr22(GRCh37):g.20339058C>G 79-14 79-14 NR_136560.1:n.79-14C>G p.? p.? 2 1 -14 3' 76.6393 7.24413 0.834138 9.32058 74.2296 6.40046 0.813157 8.58434 -0.0576858 New Donor Site 20339057 1.30274 0.0169 60.8801 rs199947698 no no 0 0.000000 0 transversion C G C>G 0.016 0.528 237 PASS . . . . . . . . . . . . . . . . 0.2682927 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.47 0.32 182 . LOC729444 . . . dist\x3d31430\x3bdist\x3d38611 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs199947698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . rs4350848 rs4350848 rs4350848 rs199947698 1 1538 10 1/0 0,255,255 +rs62218058 22 20339654 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution intron GRCh37 20339654 20339654 Chr22(GRCh37):g.20339654A>G 174+22 174+22 NR_136560.1:n.174+22A>G p.? p.? 3 3 22 5' 79.3529 8.77984 0.976494 2.18117 79.3529 8.77984 0.976494 2.21374 0 rs62218058 yes no Frequency 1 0.000000 0 0.002541 0.000000 0.000000 0.000000 0.000000 0.000000 0.003233 0.002857 0.000000 0.003233 4 0 0 0 0 0 3 1 0 1574 168 54 12 2 0 928 350 60 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 88 Genomes transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 12.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.38 0.37 182 . LOC729444 . . . dist\x3d32026\x3bdist\x3d38015 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs62218058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0025 0 0 0 0.0029 0.0032 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs471289 rs471289 rs471289 rs201602295 1 1538 10 1/0 0,255,255 +rs866093777 22 20342087 C T - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342087 20342087 Chr22(GRCh37):g.20342087C>T 409 409 NR_136560.1:n.409C>T 4 235 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs866093777 no no 0 C 0.000000 0 0.000261 0.000733 0.000000 0.000000 0.000000 0.000000 0.000093 0.000000 0.000000 0.000733 6 5 0 0 0 0 1 0 0 22966 6818 588 184 1302 0 10728 2642 704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 5 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.000 0.286 207 PASS . . . . . . . . . . . . . . . . 0.17777778 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 135.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34459\x3bdist\x3d35582 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0003 0 0 0 0 9.321e-05 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796414697 22 20342101 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342101 20342101 Chr22(GRCh37):g.20342101A>G 423 423 NR_136560.1:n.423A>G 4 249 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs796414697 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.037 206 PASS . . . . . . . . . . . . . . . . 0.16428572 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 140.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34473\x3bdist\x3d35568 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 22 20342104 G T - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342104 20342104 Chr22(GRCh37):g.20342104G>T 426 426 NR_136560.1:n.426G>T 4 252 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 Cryptic Acceptor Weakly Activated 20342107 60.575 2.81037 0.001505 65.2203 rs1006143538 no no 0 G 0.000000 0 transversion G T G>T 0.008 -0.521 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 158.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34476\x3bdist\x3d35565 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +rs142563569 22 20342105 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342105 20342105 Chr22(GRCh37):g.20342105A>G 427 427 NR_136560.1:n.427A>G 4 253 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs142563569 no no 0 A 0.000000 0 transition A G A>G 0.031 2.062 218 PASS . . . . . . . . . . . . . . . . 0.24444444 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 135.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . 0.55 0.41 182 ENSG00000188424 LOC729444 . . . dist\x3d34477\x3bdist\x3d35564 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.02 rs142563569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs142563569 rs142563569 1 1538 10 1/0 0,227,255 +rs370227910 22 20342114 T C - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342114 20342114 Chr22(GRCh37):g.20342114T>C 436 436 NR_136560.1:n.436T>C 4 262 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs370227910 no no 0 T 0.000000 0 transition T C T>C 0.000 0.770 212 PASS . . . . . . . . . . . . . . . . 0.19148937 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 141.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34486\x3bdist\x3d35555 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.88 rs370227910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs370227910 rs370227910 1 1538 10 1/0 0,220,255 +rs12167504 22 20342118 G C - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342118 20342118 Chr22(GRCh37):g.20342118G>C 440 440 NR_136560.1:n.440G>C 4 266 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs12167504 yes no Frequency/1000G 2 G 0.000000 0 0.065096 0.226900 0.006100 0.003000 0.006000 0.015900 transversion G C G>C 0.000 -1.974 188 PASS . . . . . 0.23 0.065 0.016 0.003 0.006 0.0061 . . . . . 0.13071896 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 153.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . 0.0651 . . . 0.58 0.4 182 ENSG00000188424 LOC729444 . . . dist\x3d34490\x3bdist\x3d35551 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.35 rs12167504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs12167504 rs12167504 rs12167504 rs12167504 1 1538 10 1/0 0,211,255 +rs796965496 22 20342128 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342128 20342128 Chr22(GRCh37):g.20342128A>G 450 450 NR_136560.1:n.450A>G 4 276 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs796965496 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.037 194 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 126.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34500\x3bdist\x3d35541 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 22 20342132 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342132 20342132 Chr22(GRCh37):g.20342132A>G 454 454 NR_136560.1:n.454A>G 4 280 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs1025549020 no no 0 A 0.000000 0 transition A G A>G 0.063 2.062 170 PASS . . . . . . . . . . . . . . . . 0.12781955 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 133.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34504\x3bdist\x3d35537 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-170 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs796957975 22 20342141 C T - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342141 20342141 Chr22(GRCh37):g.20342141C>T 463 463 NR_136560.1:n.463C>T 4 289 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs796957975 no no 0 C 0.000000 0 transition C T C>T 0.000 0.044 215 PASS . . . . . . . . . . . . . . . . 0.1983471 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 121.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34513\x3bdist\x3d35528 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,255 +. 22 20342594 G A - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342594 20342594 Chr22(GRCh37):g.20342594G>A 916 916 NR_136560.1:n.916G>A 4 742 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6312 2104 226 52 456 0 2690 604 180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 37 Genomes transition G A G>A 0.118 -0.279 201 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 30.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34966\x3bdist\x3d35075 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20344582 A C - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution intron GRCh37 20344582 20344582 Chr22(GRCh37):g.20344582A>C 2288+83 2288+83 NR_136560.1:n.2288+83A>C p.? p.? 5 5 83 5' 62.777 3.13833 0.139114 1.08533 62.777 3.13833 0.139114 1.08533 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A C A>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.53333336 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 15.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d36954\x3bdist\x3d33087 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs589477 rs589477 rs589477 rs589477 1 1538 10 1/0 0,255,255 +rs373844012 22 20367008 A G - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution intron GRCh37 20367008 20367008 Chr22(GRCh37):g.20367008A>G 417+6 417+6 NM_001355479.1:c.417+6T>C p.? p.? 4 4 612340 6 5' 81.3153 8.13727 0.914056 12.0471 75.5367 6.72735 0.863321 10.1048 -0.0999454 rs373844012 no no 0 0.000000 0 transition T C T>C 0.740 0.932 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16547\x3bdist\x3d10661 dist\x3d59380\x3bdist\x3d10661 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs373844012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs373844012 rs373844012 1 1538 10 1/0 0,254,255 +rs367687070 22 20367024 T G - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution missense exon GRCh37 20367024 20367024 Chr22(GRCh37):g.20367024T>G 407 407 NM_001355479.1:c.407A>C p.Asp136Ala p.Asp136Ala 4 612340 -11 5' 81.3153 8.13727 0.914056 12.0471 81.3153 8.13727 0.914056 XI.75 0 rs367687070 yes no Frequency 1 0.000000 0 transversion A C A>C 0.976 0.770 D Asp GAC 0.539 A Ala GCC 0.403 136 12 1 -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 141.90 0.00 Tolerated 0.89 III.27 187 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.018 . @ . . . . . 3 0.007 . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2731 -1.435 -1.273 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16563\x3bdist\x3d10645 dist\x3d59396\x3bdist\x3d10645 0.000 0.029 . . . . . . . . . 0 . 0.452 . . . . T 0.392 0.017 . . 37 . 0.015 . . 0.356 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . 0.118 . 0.091 . LowAF 1 rs367687070 . . . . . . . . . . . . IV.73 . . . . . 1.000000 . . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -1.847 -1.847000 . . 1.000000 . . 1.0E-187 0.999 0.424 . 0.166 0.024 . 0.453 . 0.023 -1.847 -0.281 . rs3984391 rs3984391 rs3984391 rs367687070 1 1538 10 1/0 0,255,255 +rs371170065 22 20367098 C T - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution synonymous exon GRCh37 20367098 20367098 Chr22(GRCh37):g.20367098C>T 333 333 NM_001355479.1:c.333G>A p.Pro111= p.Pro111Pro 4 612340 29 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.430594 X.35 0 rs371170065 no no 0 0.000000 0 0.000271 0.000000 0.000000 0.000000 0.002144 0.000000 0.000000 0.000000 0.000000 0.002144 6 0 0 0 6 0 0 0 0 22164 1638 4238 594 2798 2640 7726 1898 632 0.500000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 3 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 68 Exomes transition G A G>A 0.992 -0.279 P Pro CCG 0.115 P Pro CCA 0.274 111 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 26.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16637\x3bdist\x3d10571 dist\x3d59470\x3bdist\x3d10571 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs371170065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0.0021 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs371170065 rs371170065 1 1538 10 1/0 0,255,255 +rs375445907 22 20367102 C A - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution missense exon GRCh37 20367102 20367102 Chr22(GRCh37):g.20367102C>A 329 329 NM_001355479.1:c.329G>T p.Cys110Phe p.Cys110Phe 4 612340 25 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.430594 X.26 0 rs375445907 no no 0 0.000000 0 transversion G T G>T 1.000 3.111 C Cys TGC 0.552 F Phe TTC 0.546 110 12 11 Zebrafish -2 -2 -4 II.75 0 5.V 5.II 55 132 205 C0 195.00 78.17 Deleterious 0 III.27 243 PASS . . . . . . . . . . . . . . . . 0.29166666 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.265 . @ . . . . . 3 0.104 . . 24.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5022 -0.704 -0.502 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16641\x3bdist\x3d10567 dist\x3d59474\x3bdist\x3d10567 0.010 0.120 . . . . . . . . . 0 . 0.843 . . . . T 0.212 0.008 . . 37 . 0.122 . . 0.029 . . . . 0.428 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . 0.183 . 0.321 . HET 0 rs375445907 . . . . . . . . . . . . V.88 . . . . . 0.000000 . . . . . . 0.213 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.151 0.151000 . . 0.000000 . . 1.0E-243 1.000 0.715 . 0.120 0.007 . 0.559 . 0.267 0.151 0.537 . . . rs375445907 rs375445907 1 1538 10 1/0 0,255,255 +. 22 20367107 G A - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution synonymous exon GRCh37 20367107 20367107 Chr22(GRCh37):g.20367107G>A 324 324 NM_001355479.1:c.324C>T p.Ser108= p.Ser108Ser 4 612340 20 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.460382 X.15 0.0230596 0.000710 0.000803 0.000000 0.001493 0.000000 0.000000 0.001566 0.000000 0.000000 0.001566 21 3 0 1 0 0 17 0 0 29582 3734 4512 670 3198 2638 10856 3122 852 0.000406 0.000536 0.000000 0.000000 0.000000 0.000000 0.000921 0.000000 0.000000 6 1 0 0 0 0 5 0 0 9 1 0 1 0 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.690 S Ser TCC 0.220 S Ser TCT 0.185 108 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 22.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16646\x3bdist\x3d10562 dist\x3d59479\x3bdist\x3d10562 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0009 0 0.0017 0 0 0.0019 0 0 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20367111 A G - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution missense exon GRCh37 20367111 20367111 Chr22(GRCh37):g.20367111A>G 320 320 NM_001355479.1:c.320T>C p.Leu107Ser p.Leu107Ser 4 612340 16 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.561341 XI.71 0.101214 0.000090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000259 0.000000 0.000000 0.000259 2 0 0 0 0 0 2 0 0 22258 1638 4238 592 2792 2640 7708 2014 636 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 67 Exomes transition T C T>C 0.992 1.658 L Leu TTG 0.127 S Ser TCG 0.056 107 12 1 -3 -2 -4 0 I.42 4.IX 9.II 111 32 145 C0 173.95 0.00 Tolerated 1 III.27 246 PASS . . . . . . . . . . . . . . . . 0.3043478 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.020 . @ . . . . . 3 0.003 . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1041 -1.267 -1.104 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16650\x3bdist\x3d10558 dist\x3d59483\x3bdist\x3d10558 0.000 0.048 . . . . . . . . . 0 . 0.843 . . . . D 0.513 0.028 . . 37 . 0.012 . . 0.388 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . 0.109 . 0.086 . HET 1 . . . . . . . . . . . . . 4.438 . . . . . 1.000000 . . . . . . 0.039 . . . 0 8.986e-05 0 0 0 0 0.0003 0 0 . . . . . . . . . . 0.133 . -1.359 -1.359000 . . 1.000000 . . 1.0E-246 1.000 0.715 . 0.104 0.006 . 0.571 . 0.030 -1.359 -0.599 . rs3984394 rs3984394 rs3984394 rs3984394 1 1538 10 1/0 0,255,255 +. 22 20367134 C T - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution intron GRCh37 20367134 20367134 Chr22(GRCh37):g.20367134C>T 305-8 305-8 NM_001355479.1:c.305-8G>A p.? p.? 4 3 612340 -8 3' 75.9841 8.54149 0.430594 11.1815 0 2.65204 0.2495 1.42385 -0.70336 New Acceptor Site 20367132 8.38552 0.859109 83.535 0.000135 0.000592 0.000000 0.000000 0.000000 0.000000 0.000184 0.000000 0.000000 0.000592 4 2 0 0 0 0 2 0 0 29582 3378 4492 644 3142 2638 10860 3580 848 0.000135 0.000592 0.000000 0.000000 0.000000 0.000000 0.000184 0.000000 0.000000 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.913 1.093 249 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16673\x3bdist\x3d10535 dist\x3d59506\x3bdist\x3d10535 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.648e-05 0 0 0 0 0.0003 0 0 0.0012 0.0003 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20378628 T C - TMEM191B 33600 Transmembrane protein 191B NM_001242313.1 1 1334 1041 NP_001229242.1 substitution intron GRCh37 20378628 20378628 Chr22(GRCh37):g.20378628T>C 421-56 421-56 NM_001242313.1:c.421-56T>C p.? p.? 3 2 -56 3' 75.069 4.943 0.388027 1.45715 75.069 4.943 0.388027 0 0 0.000690 0.000000 0.000000 0.000000 0.000000 0.000000 0.000965 0.002252 0.000000 0.002252 3 0 0 0 0 0 2 1 0 4348 1360 112 54 204 0 2072 444 102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 77 Genomes transition T C T>C 0.213 -0.360 111 PASS . . . . . . . . . . . . . . . . 0.5833333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . INTRON(MODIFIER||||TMEM191B|mRNA|CODING|NM_001242313|) . . . . . . . -0.1586 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000235704 TMEM191B TMEM191B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0 0 0 0.0023 0.0010 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 10 1/0 30,3,0 +. 22 20389182 A G - PI4KAP1 33576 Phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NR_003563.1 -1 2360 0 substitution exon GRCh37 20389182 20389182 Chr22(GRCh37):g.20389182A>G 915 915 NR_003563.1:n.915T>C 9 23 3' 77.8346 10.0964 0.914603 9.99048 77.8346 10.0964 0.914603 9.91998 0 transition T C T>C 0.165 -2.700 255 PASS . . . . . . . . . . . . . . . . 0.7083333 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S305|PI4KAP1|Non-coding_transcript|NON_CODING|NR_003563|NR_003563.ex.9) . . . . . . . -0.7093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.45 0.35 182 ENSG00000215513 PI4KAP1 PI4KAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs409789 rs409789 rs409789 rs409789 1 1538 10 1/0 0,255,255 +. 22 20397145 TTCTTA T - PI4KAP1 33576 Phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NR_003563.1 -1 2360 0 deletion exon GRCh37 20397146 20397150 Chr22(GRCh37):g.20397146_20397150del 510 514 NR_003563.1:n.510_514del 4 -34 5' 81.5254 8.66175 0.970788 IV.57 81.5254 8.66175 0.970788 IV.71 0 TAAGA 255 Pass . . . . . . . . . . . . . . . . 0.41538462 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 65 . . FRAME_SHIFT(HIGH||||PI4KAP1|Non-coding_transcript|NON_CODING|NR_003563|NR_003563.ex.4) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . . . . . . . . ENSG00000215513 . PI4KAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,38 +rs2629362 22 20397853 C T - PI4KAP1 33576 Phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NR_003563.1 -1 2360 0 substitution intron GRCh37 20397853 20397853 Chr22(GRCh37):g.20397853C>T 419+25 419+25 NR_003563.1:n.419+25G>A p.? p.? 3 3 25 5' 71.0434 7.04051 0.921478 4.48168 71.0434 7.04051 0.921478 4.21364 0 New Acceptor Site 20397851 1.00734 0.009229 74.0661 rs2629362 no no 0 0.000000 0 0.000084 0.000000 0.000000 0.000000 0.001845 0.000000 0.000000 0.000000 0.000000 0.001845 1 0 0 0 1 0 0 0 0 11934 3442 370 144 542 0 5856 1220 360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition G A G>A 0.000 -1.328 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . INTRON(MODIFIER||||PI4KAP1|Non-coding_transcript|NON_CODING|NR_003563|) . . . . . . . -0.8527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.33 0.25 182 ENSG00000215513 PI4KAP1 PI4KAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2629362 0.326 0.362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.379e-05 0 0 0.0018 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.33 rs2629362 rs2629362 rs2629362 rs2629362 1 1538 255 1.I 0,0,255 +. 22 20398679 C T - PI4KAP1 33576 Phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NR_003563.1 -1 2360 0 substitution exon GRCh37 20398679 20398679 Chr22(GRCh37):g.20398679C>T 17 17 NR_003563.1:n.17G>A 1 -143 5' 72.849 9.08256 0.97931 11.0675 72.849 9.08256 0.97931 11.0675 0 0.000205 0.000000 0.007353 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.007353 1 0 1 0 0 0 0 0 0 4876 1650 136 54 168 0 2488 268 112 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition G A G>A 1.000 2.142 255 PASS . . . . . . . . . . . . . . . . 0.5116279 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G6D|PI4KAP1|Non-coding_transcript|NON_CODING|NR_003563|NR_003563.ex.1) . . . . . . . 0.6598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215513 PI4KAP1 PI4KAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0074 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs455312 rs455312 rs455312 rs455312 1 1538 10 1/0 0,255,255 +. 22 20456427 C A - RIMBP3 29344 RIMS binding protein 3 NM_015672.1 -1 5796 4920 NP_056487.1 substitution synonymous exon GRCh37 20456427 20456427 Chr22(GRCh37):g.20456427C>A 4875 4875 NM_015672.1:c.4875G>T p.Leu1625= p.Leu1625Leu 1 612699 Variant SH3 Src homology-3 domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7748 722 1784 220 1046 1156 2510 94 216 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 61 Exomes transversion G T G>T 0.992 0.528 L Leu CTG 0.404 L Leu CTT 0.129 1625 247 PASS . . . . . . . . . . . ENSG00000196622:ENST00000426804:exon1:c.G4875T:p.L1625L RIMBP3:uc002zsd.4:exon1:c.G4875T:p.L1625L RIMBP3:NM_015672:exon1:c.G4875T:p.L1625L . . 0.3125 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 16.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctT|L1625|RIMBP3|mRNA|CODING|NM_015672|NM_015672.ex.1) . . . . . . . 0.3922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196622 RIMBP3 RIMBP3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20460112 TCCG T - RIMBP3 29344 RIMS binding protein 3 NM_015672.1 -1 5796 4920 NP_056487.1 deletion in-frame exon GRCh37 20460113 20460115 Chr22(GRCh37):g.20460113_20460115del 1187 1189 NM_015672.1:c.1187_1189del p.Ala396del p.Ala396del 1 612699 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000394 0.000000 1 0 0 0 0 0 0 0 1 109846 13086 13940 4892 7050 13844 47104 7392 2538 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes CGG 255 Pass . . . . . . . . . . . ENSG00000196622:ENST00000426804:exon1:c.1187_1189del:p.396_397del RIMBP3:uc002zsd.4:exon1:c.1187_1189del:p.396_397del RIMBP3:NM_015672:exon1:c.1187_1189del:p.396_397del . . 0.875 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 16 . . CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||gcggag/gag|AE396E|RIMBP3|mRNA|CODING|NM_015672|NM_015672.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000196622 RIMBP3 RIMBP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.014e-05 0 0 0 0 0 0.0004 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,6 +rs5742579 (chr22:20610628 C/T) 22 20610628 C T Not on a known gene +. (chr22:20611156 C/T) 22 20611156 C T Not on a known gene +rs377383727 (chr22:20611164 C/T) 22 20611164 C T Not on a known gene +. (chr22:20615308 C/T) 22 20615308 C T Not on a known gene +. (chr22:20615435 G/A) 22 20615435 G A Not on a known gene +. (chr22:20615458 T/C) 22 20615458 T C Not on a known gene +. (chr22:20615462 C/T) 22 20615462 C T Not on a known gene +. (chr22:20615467 G/T) 22 20615467 G T Not on a known gene +. (chr22:20615471 G/A) 22 20615471 G A Not on a known gene +. (chr22:20615545 A/C) 22 20615545 A C Not on a known gene +. (chr22:20615561 T/C) 22 20615561 T C Not on a known gene +. (chr22:20615594 T/C) 22 20615594 T C Not on a known gene +. 22 20638004 T G - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution exon GRCh37 20638004 20638004 Chr22(GRCh37):g.20638004T>G 630 630 NR_136569.1:n.630A>C 8 156 3' 90.7446 8.98709 0.574351 9.94995 90.7446 8.98709 0.574351 9.94995 0 transversion A C A>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.47368422 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000223579 AK129567 . . . dist\x3d176218\x3bdist\x3d110401 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs589477 rs589477 rs589477 rs589477 1 1538 10 1/0 0,255,255 +. 22 20638878 C T - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20638878 20638878 Chr22(GRCh37):g.20638878C>T 475-719 475-719 NR_136569.1:n.475-719G>A p.? p.? 8 7 -719 3' 90.7446 8.98709 0.574351 9.94995 90.7446 8.98709 0.574351 9.94995 0 0.003119 0.008897 0.000000 0.000000 0.000000 0.000000 0.001854 0.000000 0.006757 0.008897 15 10 0 0 0 0 4 0 1 4810 1124 252 44 162 0 2158 922 148 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 10 0 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition G A G>A 0.331 2.142 186 PASS . . . . . . . . . . . . . . . . 0.12676056 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 71.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223579 AK129567 . . . dist\x3d177092\x3bdist\x3d109527 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0089 0.0031 0 0 0 0 0.0019 0.0068 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . rs5747719 rs5747719 rs5747719 rs5747719 1 1538 10 1/0 0,243,255 +. 22 20640320 C T - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640320 20640320 Chr22(GRCh37):g.20640320C>T 475-2161 475-2161 NR_136569.1:n.475-2161G>A p.? p.? 8 7 -2161 3' 90.7446 8.98709 0.574351 9.94995 90.7446 8.98709 0.574351 9.94995 0 0.000649 0.000000 0.000000 0.000000 0.000000 0.000000 0.000880 0.000447 0.003802 0.000880 11 0 0 0 0 0 8 1 2 16942 3750 502 194 646 0 9086 2238 526 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 8 1 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition G A G>A 0.346 0.609 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 86.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223579 AK129567 . . . dist\x3d178534\x3bdist\x3d108085 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0.0004 0.0009 0.0038 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs619718 . . . 1 1538 10 1/0 0,234,255 +. 22 20640793 T C - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640793 20640793 Chr22(GRCh37):g.20640793T>C 474+2432 474+2432 NR_136569.1:n.474+2432A>G p.? p.? 7 7 2432 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 0.000065 0.000263 0.000092 0.000000 0.000105 0.000103 0.000000 0.000000 0.000251 0.000263 9 3 2 0 1 2 0 0 1 139308 11424 21848 7266 9510 19428 57386 8454 3992 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 3 2 0 1 2 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.126 1.335 175 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.A584G:p.N195S . . . 0.103896104 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 77.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000223579 AK302545 . . . dist\x3d179007\x3bdist\x3d107612 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.125e-05 9.471e-05 0 0.0001 0 0 0.0003 0.0001 0.0003 7.994e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs62220057 22 20640804 C G - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640804 20640804 Chr22(GRCh37):g.20640804C>G 474+2421 474+2421 NR_136569.1:n.474+2421G>C p.? p.? 7 7 2421 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 rs62220057 no no 0 C 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 1 0 0 0 0 0 1 0 0 134078 10170 21258 7162 9364 19144 55060 8054 3866 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.039 -0.117 188 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.G573C:p.Q191H . . . 0.13043478 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 92.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.31 0.19 182 ENSG00000223579 AK302545 . . . dist\x3d179018\x3bdist\x3d107601 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs62220057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.9e-06 0 0 0 0 2.273e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs62220057 rs62220057 rs1309194 rs1309194 1 1538 10 1/0 0,232,255 +rs62220662 22 20640847 C T - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640847 20640847 Chr22(GRCh37):g.20640847C>T 474+2378 474+2378 NR_136569.1:n.474+2378G>A p.? p.? 7 7 2378 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 rs62220662 no no 0 C 0.000000 0 0.000347 0.001116 0.000791 0.000000 0.000183 0.000299 0.000205 0.000000 0.000787 0.001116 31 7 9 0 1 4 8 0 2 89228 6272 11372 5294 5466 13362 38952 5970 2540 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 7 9 0 1 4 8 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.974 198 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.G530A:p.S177N . . . 0.15555556 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 90.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.31 0.2 182 ENSG00000223579 AK302545 . . . dist\x3d179061\x3bdist\x3d107558 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0004 0.0008 0 0.0002 0 0.0002 0.0010 0.0003 0.0009 0.0003 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . rs62220662 rs62220662 rs62220662 rs62220662 1 1538 10 1/0 0,235,255 +rs62220663 22 20640855 T G - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640855 20640855 Chr22(GRCh37):g.20640855T>G 474+2370 474+2370 NR_136569.1:n.474+2370A>C p.? p.? 7 7 2370 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 Cryptic Acceptor Strongly Activated 20640846 0.001585 60.8569 0.265756 0.008107 63.7924 rs62220663 no no 0 T 0.000000 0 0.002772 0.003817 0.005032 0.001587 0.004009 0.002440 0.002303 0.000925 0.002258 0.005032 223 22 53 7 22 28 81 5 5 80460 5764 10532 4410 5488 11476 35168 5408 2214 0.000050 0.000347 0.000190 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 1 1 0 0 0 0 0 0 219 20 51 7 22 28 81 5 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.004 -2.458 211 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.A522C:p.G174G . . . 0.1875 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.32 0.24 182 ENSG00000223579 AK302545 . . . dist\x3d179069\x3bdist\x3d107550 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs62220663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0026 0.0052 0.0014 0.0039 0.0006 0.0020 0.0028 0.0024 0.0046 0.0035 0 0.0094 0.0045 0.0016 0.0039 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs62220663 rs62220663 rs62220663 rs62220663 1 1538 10 1/0 0,229,255 +rs62220664 22 20640858 G C - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640858 20640858 Chr22(GRCh37):g.20640858G>C 474+2367 474+2367 NR_136569.1:n.474+2367C>G p.? p.? 7 7 2367 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 rs62220664 no no 0 G 0.000000 0 0.000196 0.000996 0.000131 0.000200 0.000134 0.000301 0.000091 0.000000 0.000000 0.000996 20 8 2 1 1 4 4 0 0 102266 8030 15266 5010 7478 13288 43736 6526 2932 0.000059 0.000249 0.000131 0.000000 0.000000 0.000151 0.000000 0.000000 0.000000 3 1 1 0 0 1 0 0 0 14 6 0 1 1 2 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.012 -0.279 198 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.C519G:p.H173Q . . . 0.15447155 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 123.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4600 . . . . . . . . . . . . 0 0.0003 0 0 0 0 0 0.0004 0 0.0003 0 0 0 0 0 0.0004 . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.33 0.24 182 ENSG00000223579 AK302545 . . . dist\x3d179072\x3bdist\x3d107547 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs62220664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0.0001 0.0002 0.0002 0 9.065e-05 0 0.0003 0.0012 0.0003 0 0 0 0 9.397e-05 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . rs62220664 rs62220664 rs62220664 rs62220664 1 1538 10 1/0 0,222,255 +rs199846825 22 20654275 A G - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20654275 20654275 Chr22(GRCh37):g.20654275A>G 200+7 200+7 NR_136569.1:n.200+7T>C p.? p.? 2 2 7 5' 82.523 9.06409 0.863058 4.94071 82.523 9.06409 0.961927 V.03 0.0381855 rs199846825 no no 0 A 0.000000 0 transition T C T>C 0.008 0.367 186 PASS . . . . . . . . . . . . . . . . 0.12643678 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.46 0.26 182 ENSG00000223579 AK129567 . . . dist\x3d192489\x3bdist\x3d94130 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs199846825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs199846825 rs199846825 1 1538 10 1/0 0,234,255 +rs200984691 22 20654302 T C - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution exon GRCh37 20654302 20654302 Chr22(GRCh37):g.20654302T>C 180 180 NR_136569.1:n.180A>G 2 -21 5' 82.523 9.06409 0.863058 4.94071 82.523 9.06409 0.863058 4.64841 0 rs200984691 no no 0 T 0.000000 0 transition A G A>G 0.031 0.367 183 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon2:c.A67G:p.K23E . . . 0.119266056 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 109.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.63 0.37 182 ENSG00000223579 AK302545 . . . dist\x3d192516\x3bdist\x3d94103 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs200984691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs200984691 rs200984691 1 1538 10 1/0 0,224,255 +rs201820851 22 20654326 G A - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution exon GRCh37 20654326 20654326 Chr22(GRCh37):g.20654326G>A 156 156 NR_136569.1:n.156C>T 2 15 3' 75.1366 X.55 0.863897 5.64079 75.1366 X.55 0.8504 5.43474 -0.0052078 rs201820851 no no 0 G 0.000000 0 transition C T C>T 0.008 0.448 177 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon2:c.C43T:p.P15S . . . 0.106796116 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 103.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.63 0.29 182 ENSG00000223579 AK302545 . . . dist\x3d192540\x3bdist\x3d94079 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs201820851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs201820851 rs201820851 1 1538 10 1/0 0,225,255 +rs200034275 22 20654327 C A - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution exon GRCh37 20654327 20654327 Chr22(GRCh37):g.20654327C>A 155 155 NR_136569.1:n.155G>T 2 14 3' 75.1366 X.55 0.863897 5.64079 75.1366 X.55 0.870515 5.71284 0.00255355 New Acceptor Site 20654314 0.307492 6,00E-06 66.1191 rs200034275 no no 0 C 0.000000 0 transversion G T G>T 0.008 0.448 182 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon2:c.G42T:p.K14N . . . 0.11818182 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.63 0.3 182 ENSG00000223579 AK302545 . . . dist\x3d192541\x3bdist\x3d94078 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs200034275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs200034275 rs200034275 1 1538 10 1/0 0,224,255 +. (chr22:20689192 T/C) 22 20689192 T C Not on a known gene +. (chr22:20689207 G/C) 22 20689207 G C Not on a known gene +. (chr22:20689212 C/T) 22 20689212 C T Not on a known gene +. (chr22:20689225 T/G) 22 20689225 T G Not on a known gene +. (chr22:20689232 A/G) 22 20689232 A G Not on a known gene +. (chr22:20689233 T/C) 22 20689233 T C Not on a known gene +. (chr22:20689242 A/T) 22 20689242 A T Not on a known gene +. (chr22:20689243 G/A) 22 20689243 G A Not on a known gene +. (chr22:20689250 A/G) 22 20689250 A G Not on a known gene +. (chr22:20689258 G/C) 22 20689258 G C Not on a known gene +. (chr22:20689259 A/C) 22 20689259 A C Not on a known gene +. (chr22:20689260 G/A) 22 20689260 G A Not on a known gene +. (chr22:20689265 T/G) 22 20689265 T G Not on a known gene +. (chr22:20689271 C/A) 22 20689271 C A Not on a known gene +. (chr22:20689282 C/T) 22 20689282 C T Not on a known gene +. (chr22:20689294 T/G) 22 20689294 T G Not on a known gene +. (chr22:20689298 G/C) 22 20689298 G C Not on a known gene +. (chr22:20689307 T/C) 22 20689307 T C Not on a known gene +. (chr22:20689323 G/T) 22 20689323 G T Not on a known gene +. (chr22:20689329 A/T) 22 20689329 A T Not on a known gene +. (chr22:20689332 C/G) 22 20689332 C G Not on a known gene +. (chr22:20689340 G/A) 22 20689340 G A Not on a known gene +. (chr22:20689354 G/T) 22 20689354 G T Not on a known gene +. (chr22:20689365 T/A) 22 20689365 T A Not on a known gene +rs627793 22 20706397 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20706397 20706397 Chr22(GRCh37):g.20706397A>G *3-1176 *3-1176 ENST00000454608.2:c.*3-1176T>C p.? p.? 13 12 -1176 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs627793 yes no Frequency 1 T 0.000000 0 0.000038 0.000135 0.000000 0.000000 0.000088 0.000000 0.000047 0.000000 0.000000 0.000135 6 2 0 0 1 0 3 0 0 159124 14842 24172 8064 11412 22080 63972 10058 4524 0.000013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000031 0.000000 0.000000 1 0 0 0 0 0 1 0 0 4 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.086 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.34 0.32 182 ENSG00000188280 JX456220 . . . dist\x3d244611\x3bdist\x3d42008 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs627793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.326e-05 0 0 0.0001 0 4.034e-05 0 0 0.0002 9.944e-05 0 0 0 0 6.946e-05 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs112158581 rs112158581 1 1538 10 1/0 0,255,255 +. 22 20706410 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20706410 20706410 Chr22(GRCh37):g.20706410G>A *3-1189 *3-1189 ENST00000454608.2:c.*3-1189C>T p.? p.? 13 12 -1189 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 transition C T C>T 0.012 0.690 198 PASS . . . . . . . . . . . ENSG00000188280:ENST00000583722:exon3:c.G114A:p.K38K . . . . 0.15686275 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 51.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d244624\x3bdist\x3d41995 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs12172268 22 20708966 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20708966 20708966 Chr22(GRCh37):g.20708966T>A *3-3745 *3-3745 ENST00000454608.2:c.*3-3745A>T p.? p.? 13 12 -3745 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20708956 0.049029 58.6615 2.23175 0.444211 64.6502 rs12172268 no no 0 A 0.000000 0 0.005877 0.009231 0.018125 0.001364 0.016489 0.006324 0.003725 0.001233 0.005602 0.018125 273 48 58 3 34 33 83 6 8 46454 5200 3200 2200 2062 5218 22280 4866 1428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 273 48 58 3 34 33 83 6 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -1.409 255 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.T698A:p.V233D . . . . 0.375 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . 0.21 0.24 182 ENSG00000188280 JX456220 . . . dist\x3d247180\x3bdist\x3d39439 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs12172268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0195 0.0071 0.0216 0.0015 0.0285 0.0004 0.0032 0.0078 0.0063 0.0062 0.0042 0.0018 0 0.0021 0.0019 0.0044 0.0030 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs12172268 rs12172268 rs12172268 rs12172268 1 1538 10 1/0 0,255,255 +rs773406070 22 20709140 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709140 20709140 Chr22(GRCh37):g.20709140A>G *3-3919 *3-3919 ENST00000454608.2:c.*3-3919T>C p.? p.? 13 12 -3919 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs773406070 yes no Frequency 1 0.000000 0 0.000029 0.000000 0.000067 0.000000 0.000000 0.000000 0.000049 0.000000 0.000000 0.000067 3 0 1 0 0 0 2 0 0 102776 6934 14882 6786 6376 17468 40738 6818 2774 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -2.861 201 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A872G:p.D291G . . . . 0.16393442 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 61.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247354\x3bdist\x3d39265 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.26e-05 6.905e-05 0 0 0 3.008e-05 0 0 0 7.004e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs767673251 22 20709147 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709147 20709147 Chr22(GRCh37):g.20709147A>G *3-3926 *3-3926 ENST00000454608.2:c.*3-3926T>C p.? p.? 13 12 -3926 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs767673251 no no 0 0.000000 0 0.000208 0.000000 0.000202 0.000369 0.000000 0.000072 0.000298 0.000209 0.000000 0.000369 13 0 2 2 0 1 7 1 0 62632 1282 9900 5418 2170 13858 23512 4778 1714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 2 2 0 1 7 1 0 0 0 0 0 0 0 0 0 0 RF 63 Exomes transition T C T>C 0.000 0.286 133 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A879G:p.A293A . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247361\x3bdist\x3d39258 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs767673251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0.0004 0 0.0002 0.0003 0 7.216e-05 . . . . . . . . . . . . . . . . . . . 1.0E-133 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +rs12172514 22 20709242 C T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709242 20709242 Chr22(GRCh37):g.20709242C>T *3-4021 *3-4021 ENST00000454608.2:c.*3-4021G>A p.? p.? 13 12 -4021 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs12172514 yes no Frequency/1000G 2 0.000000 0 0.303115 0.251100 0.357900 0.174600 0.469200 0.270900 0.000201 0.000177 0.000000 0.000000 0.000000 0.000000 0.000347 0.000000 0.000000 0.000347 3 1 0 0 0 0 2 0 0 14904 5664 436 156 1098 0 5756 1408 386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 57 Genomes transition G A G>A 0.913 0.609 216 PASS 0.02 0.03 0.03 0.03 0.05 0.25 0.3 0.27 0.17 0.47 0.36 ENSG00000188280:ENST00000434783:exon8:c.C974T:p.A325V . . . . 0.18055555 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . 0.3031 . . . 0.2 0.22 182 ENSG00000188280 JX456220 . . . dist\x3d247456\x3bdist\x3d39163 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs12172514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.05 rs12172514 rs12172514 rs12172514 rs12172514 1 1538 10 1/0 0,255,255 +. 22 20709265 C G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709265 20709265 Chr22(GRCh37):g.20709265C>G *3-4044 *3-4044 ENST00000454608.2:c.*3-4044G>C p.? p.? 13 12 -4044 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20709253 2.92561 0.518614 64.8841 4.53535 0.73325 67.4216 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15484 4924 502 176 1056 0 6706 1690 430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 50 Genomes transversion G C G>C 0.000 -1.974 211 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.C997G:p.P333A . . . . 0.18333334 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247479\x3bdist\x3d39140 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs776575658 22 20709277 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709277 20709277 Chr22(GRCh37):g.20709277G>A *3-4056 *3-4056 ENST00000454608.2:c.*3-4056C>T p.? p.? 13 12 -4056 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs776575658 yes no Frequency 1 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000322 0.000000 0.000322 1 0 0 0 0 0 0 1 0 37038 7776 2726 936 2882 1884 16760 3110 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.974 179 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1009A:p.V337I . . . . 0.11111111 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6585 . . . . . . . . 8.356e-05 . . . 0.0031 0.0005 0 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247491\x3bdist\x3d39128 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs776575658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 4.93e-05 0 0 0 0.0005 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 22 20709346 C G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709346 20709346 Chr22(GRCh37):g.20709346C>G *3-4125 *3-4125 ENST00000454608.2:c.*3-4125G>C p.? p.? 13 12 -4125 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20709334 2.92561 0.531802 64.8841 4.53535 0.734736 67.4216 rs894880099 no no 0 0.000000 0 0.000115 0.000000 0.000660 0.000000 0.000000 0.000000 0.000111 0.000000 0.001035 0.000660 4 0 1 0 0 0 2 0 1 34644 6490 1516 942 1652 1070 17954 4054 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -3.669 136 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.C1078G:p.P360A . . . . 0.14285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247560\x3bdist\x3d39059 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.118e-05 0 0 0 0 0 0.0032 0 0 0.0001 0.0017 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-136 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 22 20709358 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709358 20709358 Chr22(GRCh37):g.20709358G>A *3-4137 *3-4137 ENST00000454608.2:c.*3-4137C>T p.? p.? 13 12 -4137 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs1013310955 no no 0 0.000000 0 transition C T C>T 0.000 -1.732 216 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1090A:p.V364I . . . . 0.25252524 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247572\x3bdist\x3d39047 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs547818483 22 20709373 C G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709373 20709373 Chr22(GRCh37):g.20709373C>G *3-4152 *3-4152 ENST00000454608.2:c.*3-4152G>C p.? p.? 13 12 -4152 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20709361 0.120875 61.9718 1.23776 0.322719 64.6502 rs547818483 yes no Frequency/1000G 2 0.000000 0 0.002196 0.003000 0.000000 0.002000 0.003000 0.002900 0.000275 0.000898 0.000660 0.000000 0.000000 0.000817 0.000116 0.000000 0.000000 0.000898 9 5 1 0 0 1 2 0 0 32744 5566 1516 1046 1436 1224 17212 3810 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 5 1 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -2.216 200 PASS . . . . . 0.003 0.0022 0.0029 0.002 0.003 . ENSG00000188280:ENST00000434783:exon8:c.C1105G:p.P369A . . . . 0.28282827 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . 0.0022 . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247587\x3bdist\x3d39032 . . . 5 7.69515e-05 64976 3 5.00117e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs547818483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0002 0.0011 0 0 0 0 0 0.0008 0.0008 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs568718183 22 20709385 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709385 20709385 Chr22(GRCh37):g.20709385G>A *3-4164 *3-4164 ENST00000454608.2:c.*3-4164C>T p.? p.? 13 12 -4164 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs568718183 yes no Frequency/1000G 2 0.000998 A 5 0.000998 0.002300 0.000000 0.000000 0.000000 0.002900 0.000048 0.000125 0.000000 0.000988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000988 2 1 0 1 0 0 0 0 0 41266 7994 1774 1012 1982 1208 21288 4778 1230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.448 250 PASS . . . . . 0.0023 0.001 0.0029 . . . ENSG00000188280:ENST00000434783:exon8:c.G1117A:p.V373I . . . . 0.30327868 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 122.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . 0.0010 . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247599\x3bdist\x3d39020 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs568718183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.822e-05 0 0.0014 0 0 0 0 0 0.0001 3.758e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 22 20710076 G T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710076 20710076 Chr22(GRCh37):g.20710076G>T *3-4855 *3-4855 ENST00000454608.2:c.*3-4855C>A p.? p.? 13 12 -4855 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 transversion C A C>A 0.000 -0.602 187 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1808T:p.R603M . . . . 0.12765957 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 94.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248290\x3bdist\x3d38329 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +rs576647081 22 20710078 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710078 20710078 Chr22(GRCh37):g.20710078T>A *3-4857 *3-4857 ENST00000454608.2:c.*3-4857A>T p.? p.? 13 12 -4857 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20710068 0.024212 58.6615 2.23175 0.307546 64.6502 rs576647081 yes no Frequency/1000G 2 0.004992 A 25 0.004992 0.014400 0.000000 0.003000 0.001000 0.002900 0.005156 0.018868 0.004167 0.000000 0.000000 0.010989 0.001802 0.000379 0.001667 0.018868 110 82 3 0 0 2 21 1 1 21336 4346 720 352 846 182 11652 2638 600 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 82 3 0 0 2 21 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.198 226 PASS . . . . . 0.014 0.005 0.0029 0.003 0.001 . ENSG00000188280:ENST00000434783:exon8:c.T1810A:p.S604T . . . . 0.23076923 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6054 . . . . . . . . 1.079e-03 . . . 0.0279 0.0073 0.0116 0 0 0 0 0 0.0469 0.0034 0.02 0 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0050 . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248292\x3bdist\x3d38327 . . . 23 0.000353977 64976 4 6.66822e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs576647081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0272 0.0022 0.0135 0 0 0 0.0004 0 0.0110 0.0181 0.0068 0 0 0 0.0006 0.0030 0.0022 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs796181095 22 20710084 C T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710084 20710084 Chr22(GRCh37):g.20710084C>T *3-4863 *3-4863 ENST00000454608.2:c.*3-4863G>A p.? p.? 13 12 -4863 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs796181095 no no 0 0.000000 0 0.000086 0.000246 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 0.000246 3 2 0 0 0 0 1 0 0 34954 8116 1326 470 1568 372 17994 4096 1012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.047 0.125 205 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.C1816T:p.P606S . . . . 0.1724138 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248298\x3bdist\x3d38321 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 0.0001 0 0 0 0 7.949e-05 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +. 22 20710111 C T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710111 20710111 Chr22(GRCh37):g.20710111C>T *3-4890 *3-4890 ENST00000454608.2:c.*3-4890G>A p.? p.? 13 12 -4890 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000061 0.000128 0.000000 0.000000 0.000000 0.000000 0.000060 0.000000 0.000000 0.000128 2 1 0 0 0 0 1 0 0 32702 7810 1286 436 1452 352 16696 3702 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.051 -1.893 196 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.C1843T:p.P615S . . . . 0.15053764 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248325\x3bdist\x3d38294 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0001 8.048e-05 0 0 0 0 8.522e-05 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +. 22 20710128 G T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710128 20710128 Chr22(GRCh37):g.20710128G>T *3-4907 *3-4907 ENST00000454608.2:c.*3-4907C>A p.? p.? 13 12 -4907 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 transversion C A C>A 0.035 0.851 205 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1860T:p.T620T . . . . 0.17333333 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 75.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248342\x3bdist\x3d38277 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +. 22 20710129 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710129 20710129 Chr22(GRCh37):g.20710129A>G *3-4908 *3-4908 ENST00000454608.2:c.*3-4908T>C p.? p.? 13 12 -4908 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 transition T C T>C 0.016 0.528 201 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A1861G:p.R621G . . . . 0.16216215 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248343\x3bdist\x3d38276 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 22 20710169 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710169 20710169 Chr22(GRCh37):g.20710169G>C *3-4948 *3-4948 ENST00000454608.2:c.*3-4948C>G p.? p.? 13 12 -4948 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000522 0.001197 0.000000 0.000000 0.000000 0.000000 0.000353 0.000000 0.000000 0.001197 12 8 0 0 0 0 4 0 0 22980 6684 596 228 1190 0 11344 2256 682 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 8 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion C G C>G 0.150 1.900 222 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1901C:p.R634T . . . . 0.22105263 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248383\x3bdist\x3d38236 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0005 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 22 20710173 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710173 20710173 Chr22(GRCh37):g.20710173G>A *3-4952 *3-4952 ENST00000454608.2:c.*3-4952C>T p.? p.? 13 12 -4952 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000246 0.000558 0.001458 0.000000 0.000000 0.000000 0.000075 0.000365 0.000000 0.001458 6 3 1 0 0 0 1 1 0 24390 5376 686 386 1080 166 13322 2742 632 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.682 156 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1905A:p.A635A . . . . 0.11904762 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248387\x3bdist\x3d38232 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0.0056 0 0 0 0 0 0 0.0006 0.0003 0 0 0 0.0006 0.0001 0 . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs200547211 22 20710196 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710196 20710196 Chr22(GRCh37):g.20710196G>C *3-4975 *3-4975 ENST00000454608.2:c.*3-4975C>G p.? p.? 13 12 -4975 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs200547211 yes no Frequency 1 0.000000 0 0.000342 0.000405 0.000658 0.000000 0.000000 0.000000 0.000373 0.000286 0.000000 0.000658 11 3 1 0 0 0 6 1 0 32132 7410 1520 460 1602 652 16082 3492 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 3 1 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.286 224 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1928C:p.R643T . . . . 0.22222222 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 90.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.22 0.22 182 ENSG00000188280 JX456220 . . . dist\x3d248410\x3bdist\x3d38209 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200547211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0009 0.0012 0 0 0 0.0011 0 0 0.0003 0.0001 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs200547211 rs200547211 1 1538 10 1/0 0,243,255 +rs569075092 22 20710227 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710227 20710227 Chr22(GRCh37):g.20710227G>A *3-5006 *3-5006 ENST00000454608.2:c.*3-5006C>T p.? p.? 13 12 -5006 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs569075092 no no 0 0.000000 0 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000129 0.000000 0.001168 0.000129 3 0 0 0 0 0 2 0 1 29378 6144 1014 494 1206 414 15502 3748 856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.037 180 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1959A:p.A653A . . . . 0.114583336 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 96.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248441\x3bdist\x3d38178 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs569075092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.879e-05 0 0 0 0 0 0.0043 0 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs779988346 22 20710246 T C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710246 20710246 Chr22(GRCh37):g.20710246T>C *3-5025 *3-5025 ENST00000454608.2:c.*3-5025A>G p.? p.? 13 12 -5025 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs779988346 yes no Frequency 1 0.000000 0 0.000183 0.000409 0.000000 0.000000 0.000000 0.000723 0.000158 0.000000 0.000000 0.000723 7 3 0 0 0 1 3 0 0 38202 7328 2530 712 1800 1384 18944 4384 1120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.602 199 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.T1978C:p.S660P . . . . 0.15625 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 96.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6874 . . . . . . . . 1.209e-04 . . . . . . . . . . . 0 0.0005 0 0 0.0007 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248460\x3bdist\x3d38159 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs779988346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0001 0 0.0007 0.0005 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs753738386 22 20710254 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710254 20710254 Chr22(GRCh37):g.20710254G>A *3-5033 *3-5033 ENST00000454608.2:c.*3-5033C>T p.? p.? 13 12 -5033 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs753738386 yes no Frequency 1 0.000000 0 0.000505 0.000630 0.000000 0.000000 0.000000 0.000000 0.000555 0.000863 0.000000 0.000863 20 5 0 0 0 0 11 4 0 39566 7942 2358 728 1696 1206 19804 4634 1198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 5 0 0 0 0 11 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.297 176 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1986A:p.A662A . . . . 0.10619469 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7286 . . . . . . . . 5.721e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . . . dist\x3d248468\x3bdist\x3d38151 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs753738386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0007 0.0008 0 0 0 0.0014 0.0010 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 22 20710684 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710684 20710684 Chr22(GRCh37):g.20710684A>G *3-5463 *3-5463 ENST00000454608.2:c.*3-5463T>C p.? p.? 13 12 -5463 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000282 0.000453 0.000452 0.000461 0.000795 0.000517 0.000068 0.000000 0.000541 0.000795 19 2 4 2 2 6 2 0 1 67426 4416 8846 4340 2516 11596 29270 4594 1848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 2 4 2 2 6 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.844 222 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A2416G:p.T806A . . . . 0.22580644 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . . . dist\x3d248898\x3bdist\x3d37721 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0003 0.0005 0.0005 0.0010 0 8.75e-05 0.0006 0.0005 0.0004 8.794e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20710694 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710694 20710694 Chr22(GRCh37):g.20710694G>C *3-5473 *3-5473 ENST00000454608.2:c.*3-5473C>G p.? p.? 13 12 -5473 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000156 0.000000 0.000000 0.000000 0.001006 0.000000 0.000100 0.000645 0.000000 0.001006 3 0 0 0 1 0 1 1 0 19214 5378 484 228 994 0 10002 1550 578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 57 Genomes transversion C G C>G 0.000 -0.279 183 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G2426C:p.R809T . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . . . dist\x3d248908\x3bdist\x3d37711 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0.0010 0.0006 9.998e-05 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62218181 22 20710700 T C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710700 20710700 Chr22(GRCh37):g.20710700T>C *3-5479 *3-5479 ENST00000454608.2:c.*3-5479A>G p.? p.? 13 12 -5479 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs62218181 no no 0 0.000000 0 0.000277 0.000690 0.000189 0.000000 0.000946 0.000159 0.000131 0.001129 0.000507 0.001129 20 3 2 0 3 2 4 5 1 72278 4346 10584 4538 3170 12602 30634 4430 1974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 3 2 0 3 2 4 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.974 255 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.T2432C:p.M811T . . . . 0.33333334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 39.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . 0.21 0.25 182 ENSG00000188280 USP41 . . . dist\x3d248914\x3bdist\x3d37705 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 rs62218181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0.0002 0 0.0007 0 0.0001 0 0.0002 0.0009 0.0010 0 0 0.0024 0.0085 0.0002 0.0034 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62218181 rs62218181 rs62218181 rs62218181 1 1538 10 1/0 0,255,255 +rs62218182 22 20710711 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710711 20710711 Chr22(GRCh37):g.20710711A>G *3-5490 *3-5490 ENST00000454608.2:c.*3-5490T>C p.? p.? 13 12 -5490 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs62218182 no no 0 0.000000 0 0.001009 0.005267 0.000991 0.000240 0.001558 0.000447 0.001044 0.000725 0.000000 0.005267 60 13 8 1 3 5 27 3 0 59492 2468 8076 4172 1926 11192 25874 4138 1646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 13 8 1 3 5 27 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.732 255 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A2443G:p.T815A . . . . 0.43076923 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 65.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . 0.23 0.22 182 ENSG00000188280 USP41 . . . dist\x3d248925\x3bdist\x3d37694 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 rs62218182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0006 0.0010 0.0002 0.0017 0.0003 0.0005 0 0.0004 0.0077 0.0044 0 0 0 0.0061 0.0040 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62218182 rs62218182 rs62218182 rs62218182 1 1538 10 1/0 0,255,255 +. 22 20710718 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710718 20710718 Chr22(GRCh37):g.20710718A>G *3-5497 *3-5497 ENST00000454608.2:c.*3-5497T>C p.? p.? 13 12 -5497 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000213 0.000000 0.000107 0.000000 0.000000 0.000097 0.000152 0.001680 0.000585 0.001680 13 0 1 0 0 1 4 6 1 61004 3288 9346 3786 2714 10302 26288 3572 1708 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 1 0 0 1 4 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -2.619 255 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A2450G:p.Q817R . . . . 0.45238096 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . . . dist\x3d248932\x3bdist\x3d37687 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0.0007 9.707e-05 0 0.0009 0.0067 0 0 0.0136 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796767383 22 20713999 G T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20713999 20713999 Chr22(GRCh37):g.20713999G>T *2+3916 *2+3916 ENST00000454608.2:c.*2+3916C>A p.? p.? 12 12 3916 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 New Acceptor Site 20713997 2.23175 0.447494 64.6502 rs796767383 no no 0 0.000000 0 0.000224 0.000328 0.000000 0.000000 0.000000 0.000000 0.000289 0.000000 0.000000 0.000328 4 2 0 0 0 0 2 0 0 17844 6098 584 112 1106 0 6928 2370 646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transversion C A C>A 0.000 -3.588 188 PASS . . . . . . . . . . . . . . . . 0.13084112 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*3013G>T . dist\x3d252213\x3bdist\x3d34406 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 22 20714002 C T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20714002 20714002 Chr22(GRCh37):g.20714002C>T *2+3913 *2+3913 ENST00000454608.2:c.*2+3913G>A p.? p.? 12 12 3913 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 0.000043 0.000000 0.001374 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001374 1 0 1 0 0 0 0 0 0 23288 7838 728 130 1406 0 9186 3172 828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition G A G>A 0.000 0.205 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*3016C>T . dist\x3d252216\x3bdist\x3d34403 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.294e-05 0.0014 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796477476 22 20715683 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715683 20715683 Chr22(GRCh37):g.20715683T>A *2+2232 *2+2232 ENST00000454608.2:c.*2+2232A>T p.? p.? 12 12 2232 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715673 0.05657 58.1757 II.86 0.450208 64.1645 rs796477476 no no 0 0.000000 0 0.003308 0.003820 0.004167 0.000000 0.002079 0.000000 0.002710 0.004482 0.003984 0.004482 49 17 2 0 2 0 17 9 2 14812 4450 480 136 962 0 6274 2008 502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 17 2 0 2 0 17 9 2 0 0 0 0 0 0 0 0 0 RF 63 Genomes transversion A T A>T 0.024 0.044 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 62.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4697T>A . dist\x3d253897\x3bdist\x3d32722 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0033 0.0042 0 0.0021 0.0045 0.0027 0.0040 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs370506516 22 20715720 C G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715720 20715720 Chr22(GRCh37):g.20715720C>G *2+2195 *2+2195 ENST00000454608.2:c.*2+2195G>C p.? p.? 12 12 2195 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715700 1.60165 0.291473 64.6502 2.23175 0.372503 64.6502 rs370506516 yes no Frequency/1000G 2 0.000000 0 0.001797 0.000800 0.001000 0.006000 0.000000 0.001400 0.003068 0.001154 0.005076 0.000000 0.002079 0.000000 0.002086 0.012097 0.010526 0.012097 39 5 2 0 2 0 11 15 4 12712 4334 394 128 962 0 5274 1240 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 5 2 0 2 0 11 15 4 0 0 0 0 0 0 0 0 0 RF 64 Genomes transversion G C G>C 0.008 0.205 142 PASS . . . . . 0.0008 0.0018 0.0014 0.006 . 0.001 . . . . . 0.115384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . 0.0018 . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4734C>G . dist\x3d253934\x3bdist\x3d32685 . . . 7 0.000107732 64976 5 8.33528e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 rs370506516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0031 0.0051 0 0.0021 0.0121 0.0021 0.0105 . . . . . . . . . . . 1.0E-142 . . . . . . . . . . . . . . rs370506516 rs370506516 1 1538 10 1/0 0,255,255 +. 22 20715724 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715724 20715724 Chr22(GRCh37):g.20715724G>A *2+2191 *2+2191 ENST00000454608.2:c.*2+2191C>T p.? p.? 12 12 2191 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 0.000051 0.000156 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000156 1 1 0 0 0 0 0 0 0 19634 6402 626 146 1254 0 8100 2462 644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition C T C>T 0.150 0.448 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4738G>A . dist\x3d253938\x3bdist\x3d32681 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 5.093e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs878960499 22 20715732 C A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715732 20715732 Chr22(GRCh37):g.20715732C>A *2+2183 *2+2183 ENST00000454608.2:c.*2+2183G>T p.? p.? 12 12 2183 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715727 0.039121 58.6615 2.36971 0.303079 65.1194 0.000703 0.000402 0.000000 0.000000 0.000000 0.000000 0.001366 0.000000 0.000000 0.001366 16 3 0 0 0 0 13 0 0 22746 7460 694 178 1394 0 9520 2764 736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 0 0 0 0 13 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transversion G T G>T 0.000 -0.117 220 PASS . . . . . . . . . . . . . . . . 0.21666667 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4746C>A . dist\x3d253946\x3bdist\x3d32673 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0007 0 0 0 0 0.0014 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20715774 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715774 20715774 Chr22(GRCh37):g.20715774G>C *2+2141 *2+2141 ENST00000454608.2:c.*2+2141C>G p.? p.? 12 12 2141 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs1031284810 no no 0 0.000000 0 0.000328 0.000167 0.000000 0.000000 0.000000 0.000000 0.000392 0.000924 0.000000 0.000924 6 1 0 0 0 0 3 2 0 18298 5996 552 162 1190 0 7650 2164 584 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion C G C>G 0.000 0.690 190 PASS . . . . . . . . . . . . . . . . 0.13414635 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4788G>C . dist\x3d253988\x3bdist\x3d32631 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0 0 0 0.0009 0.0004 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 22 20715778 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715778 20715778 Chr22(GRCh37):g.20715778G>A *2+2137 *2+2137 ENST00000454608.2:c.*2+2137C>T p.? p.? 12 12 2137 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs957167074 no no 0 0.000000 0 0.000171 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000917 0.001712 0.000917 3 0 0 0 0 0 0 2 1 17526 5782 562 140 1144 0 7132 2182 584 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.016 1.416 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4792G>A . dist\x3d253992\x3bdist\x3d32627 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0009 0 0.0017 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 22 20715791 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715791 20715791 Chr22(GRCh37):g.20715791T>A *2+2124 *2+2124 ENST00000454608.2:c.*2+2124A>T p.? p.? 12 12 2124 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715781 0.038673 58.6615 2.23175 0.396279 64.6502 0.007792 0.015278 0.003049 0.020408 0.008197 0.000000 0.004374 0.000882 0.003623 0.020408 70 44 1 2 5 0 16 1 1 8984 2880 328 98 610 0 3658 1134 276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 44 1 2 5 0 16 1 1 0 0 0 0 0 0 0 0 0 RF 100 Genomes transversion A T A>T 0.000 -2.135 198 PASS . . . . . . . . . . . . . . . . 0.15492958 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 71.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4805T>A . dist\x3d254005\x3bdist\x3d32614 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0153 0.0078 0.0030 0.0204 0.0082 0.0009 0.0044 0.0036 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +rs573113062 22 20715801 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715801 20715801 Chr22(GRCh37):g.20715801G>C *2+2114 *2+2114 ENST00000454608.2:c.*2+2114C>G p.? p.? 12 12 2114 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs573113062 yes no Frequency/1000G 2 0.005192 C 26 0.005192 0.009800 0.004100 0.004000 0.001000 0.005800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21542 6646 690 170 1334 0 9114 2856 732 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 39 Genomes transversion C G C>G 0.000 -0.521 188 PASS . . . . . 0.0098 0.0052 0.0058 0.004 0.001 0.0041 . . . . . 0.13043478 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 92.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . 0.0052 . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4815G>C . dist\x3d254015\x3bdist\x3d32604 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.32 rs573113062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs796749135 22 20715832 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715832 20715832 Chr22(GRCh37):g.20715832G>A *2+2083 *2+2083 ENST00000454608.2:c.*2+2083C>T p.? p.? 12 12 2083 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs796749135 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20788 6718 640 170 1334 0 8546 2674 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition C T C>T 0.016 0.448 209 PASS . . . . . . . . . . . . . . . . 0.1826923 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4846G>A . dist\x3d254046\x3bdist\x3d32573 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs200821821 22 20715851 T C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715851 20715851 Chr22(GRCh37):g.20715851T>C *2+2064 *2+2064 ENST00000454608.2:c.*2+2064A>G p.? p.? 12 12 2064 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs200821821 yes no Frequency 1 0.000000 0 0.001120 0.000164 0.001880 0.000000 0.000840 0.000000 0.000904 0.004606 0.000000 0.004606 21 1 1 0 1 0 7 11 0 18744 6108 532 160 1190 0 7740 2388 626 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 1 0 1 0 7 11 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition A G A>G 0.000 -1.570 214 PASS . . . . . . . . . . . . . . . . 0.19587629 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . 0.32 0.47 182 ENSG00000188280 USP41 . ENST00000434783:c.*4865T>C . dist\x3d254065\x3bdist\x3d32554 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.4 rs200821821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0011 0.0019 0 0.0008 0.0046 0.0009 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs200821821 rs200821821 1 1538 10 1/0 0,236,255 +rs201109889 22 20715859 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715859 20715859 Chr22(GRCh37):g.20715859G>A *2+2056 *2+2056 ENST00000454608.2:c.*2+2056C>T p.? p.? 12 12 2056 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs201109889 yes no Frequency 1 0.000000 0 0.000738 0.000147 0.000000 0.000000 0.000000 0.000000 0.001339 0.000800 0.001529 0.001339 15 1 0 0 0 0 11 2 1 20336 6814 628 172 1350 0 8218 2500 654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 1 0 0 0 0 11 2 1 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.000 0.770 181 PASS . . . . . . . . . . . . . . . . 0.11504425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . 0.39 0.52 182 ENSG00000188280 USP41 . ENST00000434783:c.*4873G>A . dist\x3d254073\x3bdist\x3d32546 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs201109889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0007 0 0 0 0.0008 0.0013 0.0015 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs201109889 rs201109889 1 1538 10 1/0 0,222,255 +. 22 20715895 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715895 20715895 Chr22(GRCh37):g.20715895A>G *2+2020 *2+2020 ENST00000454608.2:c.*2+2020T>C p.? p.? 12 12 2020 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 0.000142 0.000226 0.000000 0.000000 0.000000 0.000000 0.000166 0.000000 0.000000 0.000226 2 1 0 0 0 0 1 0 0 14066 4420 440 134 948 0 6030 1636 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 58 Genomes transition T C T>C 0.000 -0.360 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4909A>G . dist\x3d254109\x3bdist\x3d32510 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs796646717 22 20715980 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715980 20715980 Chr22(GRCh37):g.20715980T>A *2+1935 *2+1935 ENST00000454608.2:c.*2+1935A>T p.? p.? 12 12 1935 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715970 0.030569 58.6615 1.60165 0.281915 64.6502 rs796646717 no no 0 0.000000 0 0.006392 0.005517 0.004000 0.017241 0.005556 0.000000 0.006044 0.010695 0.000000 0.017241 31 8 1 1 2 0 11 8 0 4850 1450 250 58 360 0 1820 748 164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 8 1 1 2 0 11 8 0 0 0 0 0 0 0 0 0 0 RF 163 Genomes transversion A T A>T 0.055 0.609 184 PASS . . . . . . . . . . . . . . . . 0.12307692 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 65.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4994T>A . dist\x3d254194\x3bdist\x3d32425 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0055 0.0064 0.004 0.0172 0.0056 0.0107 0.0060 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +rs183365495 22 20818933 T A - KLHL22 25888 Kelch-like 22 (Drosophila) NM_032775.3 -1 2616 1905 NP_116164.2 Q53GT1 substitution intron GRCh37 20818933 20818933 Chr22(GRCh37):g.20818933T>A 1112+212 1112+212 NM_032775.3:c.1112+212A>T p.? p.? 4 4 212 5' 81.5358 8.23527 0.558096 3.57892 81.5358 8.23527 0.558096 3.57892 0 Cryptic Acceptor Strongly Activated 20818924 5.62586 0.772875 77.6131 7.81618 0.936262 80.5675 rs183365495 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001099 0.000344 0.000000 0.000000 0.000000 0.000000 0.002002 0.000287 0.000000 0.002002 34 3 0 0 0 0 30 1 0 30932 8724 838 302 1620 0 14982 3488 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 3 0 0 0 0 30 1 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion A T A>T 0.000 0.044 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.3478261 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . 0.2536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.46 0.26 182 ENSG00000099910 KLHL22 KLHL22 . . . . . . 102 0.00156981 64976 100 0.00166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183365495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0 0 0 0.0003 0.0020 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs183365495 rs183365495 1 1538 10 1/0 0,255,255 +rs146696139 22 20929226 G A - MED15 14248 Mediator complex subunit 15 NM_001003891.2 1 3432 2367 NP_001003891.1 Q96RN5 substitution intron GRCh37 20929226 20929226 Chr22(GRCh37):g.20929226G>A 1153-174 1153-174 NM_001003891.2:c.1153-174G>A p.? p.? 9 8 607372 -174 3' 74.7006 7.79205 0.635688 9.56469 74.7006 7.79205 0.635688 9.56469 0 rs146696139 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001227 0.000344 0.000000 0.000000 0.000000 0.000000 0.002267 0.000286 0.000000 0.002267 38 3 0 0 0 0 34 1 0 30964 8730 838 302 1622 0 14996 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 3 0 0 0 0 34 1 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 -1.409 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.62857145 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.1481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.0004 . . . 0.24 0.18 182 ENSG00000099917 MED15 MED15 . uc002zst.3:c.-174G>A . . . . 84 0.00129279 64976 82 0.00136699 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146696139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0012 0 0 0 0.0003 0.0023 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs146696139 rs146696139 1 1538 10 1/0 0,255,255 +rs779922641 22 21044524 C G - POM121L4P 19326 POM121 transmembrane nucleoporin-like 4 pseudogene NR_024592.1 1 2167 0 substitution exon GRCh37 21044524 21044524 Chr22(GRCh37):g.21044524C>G 682 682 NR_024592.1:n.682C>G 1 rs779922641 yes no Frequency 1 0.000000 0 0.000109 0.000072 0.000000 0.000000 0.000000 0.000094 0.000222 0.000000 0.000000 0.000222 17 1 0 0 0 2 14 0 0 156174 13800 24178 7788 11480 21350 63000 10148 4430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 1 0 0 0 2 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.812 178 PASS . . . . . . . . . . . . POM121L4P:uc002zsw.2:exon1:c.C206G:p.P69R . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R228G|POM121L4P|Non-coding_transcript|NON_CODING|NR_024592|NR_024592.ex.1) . . . . . . . -1.8629 . . . . . . . . 1.146e-04 . . . 0 0.0002 0 0 . 0.0003 0 0.0002 0 0.0002 0 0 0 0.0005 0 0.0002 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000217261 POM121L4P POM121L4P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 1 rs779922641 . . . . . . . . . . . . . . ENST00000412250 0.507 -0.766 . 0.870000 F5H5H7 . . . . . . . . . 0 6.978e-05 0 0 0 0 0.0001 0 9.368e-05 0.0001 0.0003 0 0 0 0 0.0006 0 . . . . -1.782 -1.782000 . . 0.870000 . . 1.0E-178 . . . . . . . . . -1.782 . . rs9620846 rs9620846 rs9620846 rs9620846 1 1538 10 1/0 0,240,255 +rs148541070 22 21369548 A T - P2RX6 8538 Purinergic receptor P2X 6 NM_005446.4 1 2737 1326 NP_005437.2 O15547 substitution stop gain exon GRCh37 21369548 21369548 Chr22(GRCh37):g.21369548A>T 85 85 NM_005446.4:c.85A>T p.Lys29* p.Lys29* 1 608077 -80 5' 85.4037 9.20665 0.981071 5.73636 85.4037 9.20665 0.981071 5.72629 0 P2X purinoreceptor rs148541070 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.005261 0.000759 0.001378 0.010515 0.000000 0.000513 0.006293 0.012368 0.004778 0.012368 1121 15 25 78 0 11 667 303 22 213084 19758 18142 7418 11206 21460 105998 24498 4604 0.000094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000132 0.000245 0.000000 10 0 0 0 0 0 7 3 0 1101 15 25 78 0 11 653 297 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8548 4404 12952 52 2 54 0.00604651 0.000453926 0.00415193 0.00604651 0.000453926 0.00415193 100 transversion A T A>T 0.984 1.577 K Lys AAG 0.575 * * TAG 0.234 29 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0029 . 0.001 . . . . . . 0.4 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.635 . . 125.0 . . . 0.0005 0.0042 0.006 0.0005 0.0042 0.006 . 0.6486 0.460 0.649 c . . . . . 4.817e-03 . . . 0.0007 0.0037 0.0010 0 0.0118 0.0063 0.0028 0.0004 0.0006 0.0046 0.0009 0 0.0129 0.0071 0.0043 0.0004 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.519 0.0006 . . . 0.54 0.63 182 ENSG00000099957 P2RX6 P2RX6 . . . 1.000 0.747 . 273 0.00420155 64976 270 0.00450105 59986 Uncertain_significance . 0 . 0.473 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.427 . . . HET 0 rs148541070 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 X.49 2.68E-4 . IV.38 IV.38 . 1.000000 . . . . 0.004152 . 0.507 . . IV.38 0.0005 0.0055 0.0014 0.0108 0 0.0130 0.0065 0.0050 0.0005 0.0010 0.0039 0 0.0033 0 0.0086 0.0051 0.0041 . . 0.223 . 1.762 1.762000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.352 0.994 . 0.573 . 0.598 1.762 1.062 0.006 . . rs148541070 rs148541070 1 1538 10 1/0 0,244,255 +rs148541070 22 21369548 A T - TUBA3FP 24067 Tubulin, alpha 3f, pseudogene NR_003608.1 -1 1964 0 substitution upstream GRCh37 21369548 21369548 Chr22(GRCh37):g.21369548A>T -972 -972 NR_003608.1:n.-972T>A p.? p.? 1 -1478 5' 82.5196 8.59441 0.959989 V.23 82.5196 8.59441 0.959989 V.23 0 rs148541070 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.005261 0.000759 0.001378 0.010515 0.000000 0.000513 0.006293 0.012368 0.004778 0.012368 1121 15 25 78 0 11 667 303 22 213084 19758 18142 7418 11206 21460 105998 24498 4604 0.000094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000132 0.000245 0.000000 10 0 0 0 0 0 7 3 0 1101 15 25 78 0 11 653 297 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8548 4404 12952 52 2 54 0.00604651 0.000453926 0.00415193 0.00604651 0.000453926 0.00415193 100 transversion T A T>A 0.984 1.577 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0029 . 0.001 . . . . . . 0.4 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.635 . . 125.0 . . . 0.0005 0.0042 0.006 0.0005 0.0042 0.006 . 0.6486 0.460 0.649 c . . . . . 4.817e-03 . . . 0.0007 0.0037 0.0010 0 0.0118 0.0063 0.0028 0.0004 0.0006 0.0046 0.0009 0 0.0129 0.0071 0.0043 0.0004 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.519 0.0006 . . . 0.54 0.63 182 ENSG00000099957 P2RX6 P2RX6 . . . 1.000 0.747 . 273 0.00420155 64976 270 0.00450105 59986 Uncertain_significance . 0 . 0.473 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.427 . . . HET 0 rs148541070 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 X.49 2.68E-4 . IV.38 IV.38 . 1.000000 . . . . 0.004152 . 0.507 . . IV.38 0.0005 0.0055 0.0014 0.0108 0 0.0130 0.0065 0.0050 0.0005 0.0010 0.0039 0 0.0033 0 0.0086 0.0051 0.0041 . . 0.223 . 1.762 1.762000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.352 0.994 . 0.573 . 0.598 1.762 1.062 0.006 . . rs148541070 rs148541070 1 1538 10 1/0 0,244,255 +rs544077370 22 21386214 C T - SLC7A4 11062 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 NM_004173.2 -1 2313 1908 NP_004164.2 O43246 substitution intron GRCh37 21386214 21386214 Chr22(GRCh37):g.21386214C>T -113 -113 NM_004173.2:c.-40-73G>A p.? p.? 2 1 603752 -73 3' 0 6.59457 0.682894 4.1037 0 6.59457 0.682894 3.94511 0 rs544077370 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.001940 0.000344 0.000000 0.000000 0.000000 0.000000 0.002671 0.004293 0.002041 0.004293 60 3 0 0 0 0 40 15 2 30924 8714 838 302 1622 0 14974 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 3 0 0 0 0 40 15 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 0.205 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.5294118 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . -0.0035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000226872 SLC7A4 SLC7A4 . . . . . . 141 0.00217003 64976 140 0.00233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs544077370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0019 0 0 0 0.0043 0.0027 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21473071 T G - BCRP2 1015 Breakpoint cluster region pseudogene 2 NR_037566.1 1 2334 0 substitution splice site GRCh37 21473071 21473071 Chr22(GRCh37):g.21473071T>G 689-5 689-5 NR_037566.1:n.689-5T>G p.? p.? 5 4 113630 -5 3' 88.0284 10.0643 0.974754 X.99 81.5705 8.20316 0.861999 8.70823 -0.124654 transversion T G T>G 0.055 -0.521 188 PASS . . . . . . . . . . . . . . . . 0.13207547 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||BCRP2|Non-coding_transcript|NON_CODING|NR_037566|) . . . . . . . -0.3725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing ncRNA_exonic ncRNA_intronic . . . @ . . . 0.56 0.29 182 ENSG00000169668\x3bENSG00000197210 AL117485 BCRP2 ENST00000420508:exon4:c.2209-2A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs140436 rs140436 rs140436 rs140436 1 1538 10 1/0 0,255,255 +rs140438 22 21473253 C G - BCRP2 1015 Breakpoint cluster region pseudogene 2 NR_037566.1 1 2334 0 substitution intron GRCh37 21473253 21473253 Chr22(GRCh37):g.21473253C>G 851+15 851+15 NR_037566.1:n.851+15C>G p.? p.? 5 5 113630 15 5' 84.8076 9.98517 0.957869 8.25062 84.8076 9.98517 0.957869 8.23006 0 rs140438 no no 0 0.000000 0 transversion C G C>G 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.3478261 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . INTRON(MODIFIER||||BCRP2|Non-coding_transcript|NON_CODING|NR_037566|) . . . . . . . -0.6219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.5 0.25 182 . AL117485 BCRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs140438 rs140438 rs140438 rs140438 1 1538 10 1/0 0,255,255 +rs879989021 22 21474018 C T - BCRP2 1015 Breakpoint cluster region pseudogene 2 NR_037566.1 1 2334 0 substitution intron GRCh37 21474018 21474018 Chr22(GRCh37):g.21474018C>T 851+780 851+780 NR_037566.1:n.851+780C>T p.? p.? 5 5 113630 780 5' 84.8076 9.98517 0.957869 8.25062 84.8076 9.98517 0.957869 8.25062 0 rs879989021 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 1.000 1.416 252 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||BCRP2|Non-coding_transcript|NON_CODING|NR_037566|) . . . . . . . 0.3972 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.62 0.29 182 ENSG00000169668 AL117485 BCRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs5742571 rs5742571 rs5742571 rs5742571 1 1538 10 1/0 0,255,255 +. 22 21474073 G A - BCRP2 1015 Breakpoint cluster region pseudogene 2 NR_037566.1 1 2334 0 substitution intron GRCh37 21474073 21474073 Chr22(GRCh37):g.21474073G>A 851+835 851+835 NR_037566.1:n.851+835G>A p.? p.? 5 5 113630 835 5' 84.8076 9.98517 0.957869 8.25062 84.8076 9.98517 0.957869 8.25062 0 transition G A G>A 0.197 -0.682 226 PASS . . . . . . . . . . . . . . . . 0.23529412 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||BCRP2|Non-coding_transcript|NON_CODING|NR_037566|) . . . . . . . -0.3826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . . AL117485 BCRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr22:21480096 G/A) 22 21480096 G A No Alamut gene - other known genes: POM121L7 POM121L7 +. (chr22:21480619 T/A) 22 21480619 T A No Alamut gene - other known genes: POM121L7 POM121L7 +rs662899 (chr22:21480847 G/T) 22 21480847 G T No Alamut gene - other known genes: POM121L7 POM121L7 +. (chr22:21481540 G/A) 22 21481540 G A No Alamut gene - other known genes: POM121L7 POM121L7 +rs561456 22 21520390 G C - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520390 21520390 Chr22(GRCh37):g.21520390G>C -802 -802 NR_108107.1:n.-802G>C p.? p.? 1 -1014 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs561456 no no 0 0.000000 0 0.002041 0.005639 0.000000 0.000000 0.001355 0.000000 0.000940 0.001912 0.000000 0.005639 24 15 0 0 1 0 6 2 0 11758 2660 408 166 738 0 6380 1046 360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 15 0 0 1 0 6 2 0 0 0 0 0 0 0 0 0 0 RF 49 Genomes transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.64705884 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 17.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.33 0.26 182 . . FAM230B dist\x3d23730\x3bdist\x3d1657 dist\x3d38295\x3bdist\x3d17613 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371419044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0056 0.0020 0 0 0.0014 0.0019 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs561456 rs561456 rs561456 rs371419044 1 1538 10 1/0 0,255,255 +. 22 21520403 C T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520403 21520403 Chr22(GRCh37):g.21520403C>T -789 -789 NR_108107.1:n.-789C>T p.? p.? 1 -1001 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Weakly Activated 21520408 5.33446 0.002429 68.4091 4.59598 0.005142 71.9547 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23264 6754 686 200 1484 0 11130 2284 726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 29 Genomes transition C T C>T 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.35 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 20.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23743\x3bdist\x3d1644 dist\x3d38308\x3bdist\x3d17600 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs80090893 22 21520415 A G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520415 21520415 Chr22(GRCh37):g.21520415A>G -777 -777 NR_108107.1:n.-777A>G p.? p.? 1 -989 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs80090893 no no 0 0.000000 0 0.003503 0.003188 0.003030 0.000000 0.001767 0.000000 0.002008 0.019280 0.003165 0.019280 38 7 1 0 1 0 13 15 1 10848 2196 330 188 566 0 6474 778 316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 7 1 0 1 0 13 15 1 0 0 0 0 0 0 0 0 0 RF 61 Genomes transition A G A>G 0.000 -14.080 236 PASS . . . . . . . . . . . . . . . . 0.53846157 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 26.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.38 0.22 182 . . FAM230B dist\x3d23755\x3bdist\x3d1632 dist\x3d38320\x3bdist\x3d17588 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374512734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0035 0.0030 0 0.0018 0.0193 0.0020 0.0032 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs80090893 rs374512734 1 1538 10 1/0 0,255,255 +rs75224930 22 21520425 A T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520425 21520425 Chr22(GRCh37):g.21520425A>T -767 -767 NR_108107.1:n.-767A>T p.? p.? 1 -979 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21520437 3.33092 0.528775 X.97 0.861921 84.5116 rs75224930 no no 0 0.000000 0 0.003641 0.002657 0.006211 0.000000 0.001792 0.000000 0.002282 0.019789 0.003030 0.019789 40 6 2 0 1 0 15 15 1 10986 2258 322 188 558 0 6572 758 330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 6 2 0 1 0 15 15 1 0 0 0 0 0 0 0 0 0 RF 61 Genomes transversion A T A>T 0.000 -14.080 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.37 0.23 182 . . FAM230B dist\x3d23765\x3bdist\x3d1622 dist\x3d38330\x3bdist\x3d17578 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0036 0.0062 0 0.0018 0.0198 0.0023 0.0030 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs75224930 rs75224930 1 1538 10 1/0 0,255,255 +. 22 21520426 G A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520426 21520426 Chr22(GRCh37):g.21520426G>A -766 -766 NR_108107.1:n.-766G>A p.? p.? 1 -978 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21520437 3.33092 0.528775 7.48711 0.505479 78.6594 transition G A G>A 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23766\x3bdist\x3d1621 dist\x3d38331\x3bdist\x3d17577 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21520442 A C - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520442 21520442 Chr22(GRCh37):g.21520442A>C -750 -750 NR_108107.1:n.-750A>C p.? p.? 1 -962 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Donor Weakly Activated 21520436 6.80373 0.492566 84.4819 7.09429 0.511193 84.0323 0.000294 0.000172 0.000000 0.000000 0.000000 0.000000 0.000202 0.001479 0.000000 0.001479 6 1 0 0 0 0 2 3 0 20414 5824 594 200 1280 0 9878 2028 610 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transversion A C A>C 0.000 -14.080 186 PASS . . . . . . . . . . . . . . . . 0.12820514 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 39.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.46 0.27 182 . . FAM230B dist\x3d23782\x3bdist\x3d1605 dist\x3d38347\x3bdist\x3d17561 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0 0 0 0.0015 0.0002 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs80329371 rs80329371 1 1538 10 1/0 0,255,255 +rs79634627 22 21520443 G A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520443 21520443 Chr22(GRCh37):g.21520443G>A -749 -749 NR_108107.1:n.-749G>A p.? p.? 1 -961 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs79634627 no no 0 0.000000 0 0.004128 0.003492 0.005464 0.000000 0.002551 0.000000 0.002062 0.022177 0.005405 0.022177 53 10 2 0 2 0 15 22 2 12840 2864 366 190 784 0 7274 992 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 10 2 0 2 0 15 22 2 0 0 0 0 0 0 0 0 0 RF 51 Genomes transition G A G>A 0.000 -14.080 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.44 0.25 182 . . FAM230B dist\x3d23783\x3bdist\x3d1604 dist\x3d38348\x3bdist\x3d17560 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369363014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0041 0.0055 0 0.0026 0.0222 0.0021 0.0054 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . rs76941322 rs369363014 1 1538 10 1/0 0,255,255 +rs796157642 22 21520448 T G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520448 21520448 Chr22(GRCh37):g.21520448T>G -744 -744 NR_108107.1:n.-744T>G p.? p.? 1 -956 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796157642 no no 0 0.000000 0 0.001149 0.000000 0.000000 0.000000 0.000831 0.000000 0.000201 0.012535 0.001730 0.012535 22 0 0 0 1 0 2 18 1 19152 5270 522 196 1204 0 9946 1436 578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 0 1 0 2 18 1 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion T G T>G 0.000 -14.080 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.51 0.28 182 . . FAM230B dist\x3d23788\x3bdist\x3d1599 dist\x3d38353\x3bdist\x3d17555 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0 0 0.0008 0.0125 0.0002 0.0017 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs78708842 rs78708842 1 1538 10 1/0 0,255,255 +. 22 21520452 A G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520452 21520452 Chr22(GRCh37):g.21520452A>G -740 -740 NR_108107.1:n.-740A>G p.? p.? 1 -952 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 transition A G A>G 0.000 -14.080 247 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23792\x3bdist\x3d1595 dist\x3d38357\x3bdist\x3d17551 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796769998 22 21520465 C T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520465 21520465 Chr22(GRCh37):g.21520465C>T -727 -727 NR_108107.1:n.-727C>T p.? p.? 1 -939 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796769998 no no 0 0.000000 0 0.003650 0.003234 0.002688 0.000000 0.002519 0.000000 0.002391 0.017598 0.000000 0.017598 47 10 1 0 2 0 17 17 0 12876 3092 372 166 794 0 7110 966 376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 10 1 0 2 0 17 17 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition C T C>T 0.000 -14.080 237 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23805\x3bdist\x3d1582 dist\x3d38370\x3bdist\x3d17538 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0037 0.0027 0 0.0025 0.0176 0.0024 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs76323659 rs76323659 1 1538 10 1/0 0,255,255 +rs796786755 22 21520477 T G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520477 21520477 Chr22(GRCh37):g.21520477T>G -715 -715 NR_108107.1:n.-715T>G p.? p.? 1 -927 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796786755 no no 0 0.000000 0 0.001982 0.001433 0.005000 0.000000 0.001202 0.000000 0.000954 0.011952 0.000000 0.011952 27 5 2 0 1 0 7 12 0 13626 3488 400 168 832 0 7340 1004 394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 5 2 0 1 0 7 12 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion T G T>G 0.000 -14.080 220 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.45 0.25 182 . . FAM230B dist\x3d23817\x3bdist\x3d1570 dist\x3d38382\x3bdist\x3d17526 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0020 0.005 0 0.0012 0.0120 0.0010 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs75120345 rs75120345 1 1538 10 1/0 0,255,255 +rs368617620 22 21520481 G C - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520481 21520481 Chr22(GRCh37):g.21520481G>C -711 -711 NR_108107.1:n.-711G>C p.? p.? 1 -923 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs368617620 no no 0 0.000000 0 transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.37777779 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23821\x3bdist\x3d1566 dist\x3d38386\x3bdist\x3d17522 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368617620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs368617620 rs368617620 1 1538 10 1/0 0,255,255 +rs371591776 22 21520490 T C - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520490 21520490 Chr22(GRCh37):g.21520490T>C -702 -702 NR_108107.1:n.-702T>C p.? p.? 1 -914 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs371591776 no no 0 0.000000 0 0.002923 0.002724 0.002688 0.000000 0.002463 0.000000 0.001493 0.015856 0.000000 0.015856 37 9 1 0 2 0 10 15 0 12658 3304 372 146 812 0 6696 946 382 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 9 1 0 2 0 10 15 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.5777778 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.53 0.33 182 . . FAM230B dist\x3d23830\x3bdist\x3d1557 dist\x3d38395\x3bdist\x3d17513 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371591776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0029 0.0027 0 0.0025 0.0159 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371591776 rs371591776 1 1538 10 1/0 0,255,255 +rs376695092 22 21520506 G T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520506 21520506 Chr22(GRCh37):g.21520506G>T -686 -686 NR_108107.1:n.-686G>T p.? p.? 1 -898 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21520519 6.11823 0.038863 72.2247 7.49463 0.253907 77.8213 rs376695092 no no 0 0.000000 0 0.002491 0.002591 0.002778 0.000000 0.001362 0.000000 0.000970 0.013580 0.005848 0.013580 29 8 1 0 1 0 6 11 2 11644 3088 360 126 734 0 6184 810 342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 8 1 0 1 0 6 11 2 0 0 0 0 0 0 0 0 0 RF 54 Genomes transversion G T G>T 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.59090906 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.27 0.15 182 . . FAM230B dist\x3d23846\x3bdist\x3d1541 dist\x3d38411\x3bdist\x3d17497 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376695092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0025 0.0028 0 0.0014 0.0136 0.0010 0.0058 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76755141 rs376695092 1 1538 10 1/0 0,255,255 +rs796827694 22 21520512 A T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520512 21520512 Chr22(GRCh37):g.21520512A>T -680 -680 NR_108107.1:n.-680A>T p.? p.? 1 -892 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21520519 6.11823 0.038863 72.2247 7.36263 0.384628 77.1502 rs796827694 no no 0 0.000000 0 0.001505 0.001591 0.002513 0.000000 0.001205 0.000000 0.000437 0.007592 0.005263 0.007592 20 6 1 0 1 0 3 7 2 13292 3772 398 130 830 0 6860 922 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 6 1 0 1 0 3 7 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion A T A>T 0.000 -14.080 206 PASS . . . . . . . . . . . . . . . . 0.17777778 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.25 0.18 182 . . FAM230B dist\x3d23852\x3bdist\x3d1535 dist\x3d38417\x3bdist\x3d17491 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0015 0.0025 0 0.0012 0.0076 0.0004 0.0053 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs75257717 rs75257717 1 1538 10 1/0 0,255,255 +rs796621052 22 21520523 G A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520523 21520523 Chr22(GRCh37):g.21520523G>A -669 -669 NR_108107.1:n.-669G>A p.? p.? 1 -881 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796621052 no no 0 0.000000 0 0.001907 0.002395 0.005747 0.000000 0.001326 0.000000 0.001103 0.004938 0.003012 0.005747 23 8 2 0 1 0 7 4 1 12058 3340 348 128 754 0 6346 810 332 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 8 2 0 1 0 7 4 1 0 0 0 0 0 0 0 0 0 RF 53 Genomes transition G A G>A 0.000 -14.080 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.32 0.16 182 . . FAM230B dist\x3d23863\x3bdist\x3d1524 dist\x3d38428\x3bdist\x3d17480 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0019 0.0057 0 0.0013 0.0049 0.0011 0.0030 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs79437299 rs79437299 1 1538 10 1/0 0,255,255 +rs796882196 22 21520537 G T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520537 21520537 Chr22(GRCh37):g.21520537G>T -655 -655 NR_108107.1:n.-655G>T p.? p.? 1 -867 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796882196 no no 0 0.000000 0 0.002076 0.002528 0.000000 0.000000 0.002941 0.000000 0.000975 0.009115 0.003067 0.009115 24 8 0 0 2 0 6 7 1 11558 3164 334 134 680 0 6152 768 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 8 0 0 2 0 6 7 1 0 0 0 0 0 0 0 0 0 RF 56 Genomes transversion G T G>T 0.000 -14.080 235 PASS . . . . . . . . . . . . . . . . 0.2647059 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 34.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.27 0.17 182 . . FAM230B dist\x3d23877\x3bdist\x3d1510 dist\x3d38442\x3bdist\x3d17466 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0021 0 0 0.0029 0.0091 0.0010 0.0031 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs78437043 rs78437043 1 1538 10 1/0 0,255,255 +rs34176112 22 21520548 T A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520548 21520548 Chr22(GRCh37):g.21520548T>A -644 -644 NR_108107.1:n.-644T>A p.? p.? 1 -856 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs34176112 no no 0 0.000000 0 0.001262 0.001459 0.002688 0.000000 0.001587 0.000000 0.000655 0.003341 0.003106 0.003341 15 5 1 0 1 0 4 3 1 11882 3426 372 124 630 0 6110 898 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 5 1 0 1 0 4 3 1 0 0 0 0 0 0 0 0 0 RF 53 Genomes transversion T A T>A 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.33 0.13 182 . . FAM230B dist\x3d23888\x3bdist\x3d1499 dist\x3d38453\x3bdist\x3d17455 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34176112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0013 0.0027 0 0.0016 0.0033 0.0007 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77647632 rs77647632 1 1538 10 1/0 0,255,255 +. 22 21522153 C G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21522153 21522153 Chr22(GRCh37):g.21522153C>G 212+750 212+750 NR_108107.1:n.212+750C>G p.? p.? 1 1 750 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 0.000477 0.000602 0.000000 0.000000 0.000000 0.000000 0.000358 0.000787 0.001269 0.000787 12 5 0 0 0 0 4 2 1 25148 8306 580 142 1614 0 11178 2540 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 0 0 0 0 4 2 1 0 0 0 0 0 0 0 0 0 RF 46 Genomes transversion C G C>G 0.012 0.528 214 PASS . . . . . . . . . . . . . . . . 0.19736843 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000215498 . FAM230B . dist\x3d40058\x3bdist\x3d15850 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0005 0 0 0 0.0008 0.0004 0.0013 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs5993170 rs5993170 . . 1 1538 10 1/0 0,247,255 +. 22 21522166 G A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21522166 21522166 Chr22(GRCh37):g.21522166G>A 212+763 212+763 NR_108107.1:n.212+763G>A p.? p.? 1 1 763 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21522177 3.33092 0.61293 7.48711 0.565101 78.6594 transition G A G>A 0.000 -0.763 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.5634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000215498 . FAM230B . dist\x3d40071\x3bdist\x3d15837 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 22 21522171 T A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21522171 21522171 Chr22(GRCh37):g.21522171T>A 212+768 212+768 NR_108107.1:n.212+768T>A p.? p.? 1 1 768 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 0.000379 0.000567 0.000000 0.000000 0.000000 0.000000 0.000229 0.000529 0.001520 0.000567 7 3 0 0 0 0 2 1 1 18476 5292 444 118 1320 0 8752 1892 658 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 RF 59 Genomes transversion T A T>A 0.012 0.448 223 PASS . . . . . . . . . . . . . . . . 0.21917808 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . 0.53 0.1 182 ENSG00000215498 . FAM230B . dist\x3d40076\x3bdist\x3d15832 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0004 0 0 0 0.0005 0.0002 0.0015 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . rs71313953 . . 1 1538 10 1/0 0,251,255 +. 22 21522173 A G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21522173 21522173 Chr22(GRCh37):g.21522173A>G 212+770 212+770 NR_108107.1:n.212+770A>G p.? p.? 1 1 770 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 0.000450 0.001232 0.000000 0.000000 0.000000 0.000000 0.000094 0.000000 0.000000 0.001232 11 10 0 0 0 0 1 0 0 24428 8116 578 120 1586 0 10610 2648 770 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 10 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition A G A>G 0.016 0.448 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000215498 . FAM230B . dist\x3d40078\x3bdist\x3d15830 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0005 0 0 0 0 9.425e-05 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 22 21535354 T A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21535354 21535354 Chr22(GRCh37):g.21535354T>A 545+9 545+9 NR_108107.1:n.545+9T>A p.? p.? 7 7 9 5' 79.3529 8.77984 0.976494 I.77 79.3529 8.77984 0.976494 1.03761 0 transversion T A T>A 0.016 0.367 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.46 0.41 182 ENSG00000215498 . FAM230B . dist\x3d53259\x3bdist\x3d2649 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs62231344 rs62231344 rs62231344 rs62231344 1 1538 10 1/0 0,255,255 +rs771668548 22 21576408 A C - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution missense exon GRCh37 21576408 21576408 Chr22(GRCh37):g.21576408A>C 260 260 NM_001351304.1:c.260T>G p.Val87Gly p.Val87Gly 7 137181 -42 5' 32.1342 0 0 0 32.1342 0 0 0 0 rs771668548 yes no Frequency 1 A 0.000000 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000079 3 0 0 0 0 0 3 0 0 89408 7980 13698 3524 6986 9516 38134 7180 2390 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes transversion T G T>G 0.992 2.546 V Val GTT 0.178 G Gly GGT 0.162 87 13 1 -3 -3 -6 0 0.74 5.IX 9 84 3 109 C0 228.86 0.00 Tolerated 1 II.83 188 PASS . . . . . . . . . . . . . . . . 0.12946428 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.067 . @ . . . . . 3 0.003 . . 224.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2617 -1.049 -1.262 c . . . . . 5.532e-05 . . . . . . . . . . . 0 0.0003 0 0 0 0.0005 0 0 nonsynonymous_SNV . . 0.008 . . exonic intergenic intergenic . . 0.271 @ . . . . . . ENSG00000133475 . . . dist\x3d12636\x3bdist\x3d60306 dist\x3d29963\x3bdist\x3d60306 0.000 0.058 . . . . . . . . . 0 . . . . . . T 0.452 0.022 . . 37 . 0.001 . . 0.372 . . . . 0.364 . . . . . . . . . . . . . . . 0.000 . . . . . . 0 . . . . . . . . . . . . . 0.010 . . . . . 0.290 . 0.256 . LowAF 1 rs771668548 . . . . . . . . . . . . 7.953 . . II.23 II.23 . 1.000000 . . . . . . 0.056 . . II.23 0 3.355e-05 0 0 0 0 7.867e-05 0 0 . . . . . . . . . . 0.246 . 0.284 0.284000 . . 1.000000 . . 1.0E-188 1.000 0.715 . 0.291 0.963 . 0.662 . 0.105 0.284 -0.253 . . . . . 1 1538 10 1/0 0,194,255 +. 22 21576418 C T - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution missense exon GRCh37 21576418 21576418 Chr22(GRCh37):g.21576418C>T 250 250 NM_001351304.1:c.250G>A p.Gly84Ser p.Gly84Ser 7 137181 -52 5' 32.1342 0 0 0 32.1342 0 0 0 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000027 1 0 0 0 0 0 1 0 0 87572 7652 13702 3464 7554 9522 36662 6664 2352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 58 Exomes transition G A G>A 1.000 3.999 G Gly GGC 0.342 S Ser AGC 0.243 84 13 12 Baker's yeast 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 206.04 29.56 Deleterious 0 II.83 183 PASS . . . . . . . . . . . . . . . . 0.11981567 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.670 . @ . . . . . 3 0.570 . . 217.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2417 0.091 0.242 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.211 . . exonic intergenic intergenic . . 0.271 @ . . . . . . ENSG00000133475 . . . dist\x3d12646\x3bdist\x3d60296 dist\x3d29973\x3bdist\x3d60296 0.133 0.171 . . . . . . . . . 0 . . . . . . D 0.559 0.035 . . 37 . 0.556 . . 0.673 . . . . 0.503 . . . . . . . . . . . . . . . 0.837 . . . . . . 0 . . . . . . . . . . . . . 0.614 . . . . . 0.418 . 0.712 . LowAF 0.01 . . . . . . . . . . . . . 10.1557 . . II.23 II.23 . 0.010000 . . . . . . 0.418 . . II.23 0 1.142e-05 0 0 0 0 2.728e-05 0 0 . . . . . . . . . . 0.372 . 1.256 1.256000 . . 0.010000 . . 1.0E-183 1.000 0.715 . 0.344 1.000 . 0.662 . 0.105 1.256 0.821 . . . . . 1 1538 10 1/0 0,195,255 +. 22 21583205 C T - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution 5'UTR GRCh37 21583205 21583205 Chr22(GRCh37):g.21583205C>T -400 -400 NM_001351304.1:c.-400G>A p.? p.? 2 137181 -157 5' 81.8924 9.08182 0.982295 0 81.8924 9.08182 0.982295 0 0 transition G A G>A 0.969 0.932 195 PASS . . . . . . . . . . . . . . . . 0.14814815 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.5508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d1279\x3bdist\x3d39245 dist\x3d19433\x3bdist\x3d53509 dist\x3d36760\x3bdist\x3d53509 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21583210 G A - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution 5'UTR GRCh37 21583210 21583210 Chr22(GRCh37):g.21583210G>A -405 -405 NM_001351304.1:c.-405C>T p.? p.? 2 137181 -162 5' 81.8924 9.08182 0.982295 0 81.8924 9.08182 0.982295 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 636 148 12 12 4 0 380 62 18 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 165 Genomes transition C T C>T 0.969 -0.602 196 PASS . . . . . . . . . . . . . . . . 0.1509434 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.1039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d1284\x3bdist\x3d39240 dist\x3d19438\x3bdist\x3d53504 dist\x3d36765\x3bdist\x3d53504 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796540513 22 21583246 C T - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution 5'UTR GRCh37 21583246 21583246 Chr22(GRCh37):g.21583246C>T -441 -441 NM_001351304.1:c.-441G>A p.? p.? 2 137181 182 3' 82.27 XII.22 0.994352 XI.83 82.27 XII.22 0.994352 XI.83 0 rs796540513 no no 0 C 0.000000 0 0.001684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.007177 0.000000 0.007177 3 0 0 0 0 0 0 3 0 1782 368 34 18 22 0 870 418 52 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 RF 99 Genomes transition G A G>A 0.835 0.851 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d1320\x3bdist\x3d39204 dist\x3d19474\x3bdist\x3d53468 dist\x3d36801\x3bdist\x3d53468 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0017 0 0 0 0.0072 0 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21645020 C T - POM121L8P 35446 POM121 transmembrane nucleoporin-like 8 pseudogene NR_024583.1 1 7716 0 substitution exon GRCh37 21645020 21645020 Chr22(GRCh37):g.21645020C>T 2266 2266 NR_024583.1:n.2266C>T 5 38 3' 83.7645 7.35766 0.924892 5.54189 83.7645 7.35766 0.924892 5.44967 0 Cryptic Acceptor Strongly Activated 21645029 9.95245 0.250315 86.6746 X.16 0.50383 89.3865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 176 132 10 0 8 0 18 8 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 351 Genomes transition C T C>T 0.031 0.528 210 PASS . . . . . . . . . . . . . . . . 0.1891892 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R756C|POM121L8P|Non-coding_transcript|NON_CODING|NR_024583|NR_024583.ex.5) . . . . . . . -0.2351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000169662 POM121L8P POM121L8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21645840 G C - POM121L8P 35446 POM121 transmembrane nucleoporin-like 8 pseudogene NR_024583.1 1 7716 0 substitution exon GRCh37 21645840 21645840 Chr22(GRCh37):g.21645840G>C 3086 3086 NR_024583.1:n.3086G>C 5 -313 5' 64.1828 3.1876 0.142816 2.39227 64.1828 3.1876 0.142816 2.39227 0 transversion G C G>C 0.157 -2.781 249 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G1029A|POM121L8P|Non-coding_transcript|NON_CODING|NR_024583|NR_024583.ex.5) . . . . . . . -1.4071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.4 0.25 182 ENSG00000169662 POM121L8P POM121L8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000360625 . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.662 -2.662000 . . 0.000000 . . 1.0E-249 . . . . . . . . . -2.662 . . rs140438 rs140438 rs140438 rs140438 1 1538 10 1/0 0,255,255 +rs5763761 (chr22:21679248 A/C) 22 21679248 A C Not on a known gene +. (chr22:21680955 C/G) 22 21680955 C G Not on a known gene +. 22 21739332 AGAG A - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 deletion in-frame exon GRCh37 21739336 21739338 Chr22(GRCh37):g.21739336_21739338del 1189 1191 NM_001128635.1:c.1189_1191del p.Glu397del p.Glu397del 1 612700 rs201364657 yes no Frequency/1000G 2 0.000000 0 GAG 255 Pass . 0.01 0.0028 0.02 0.02 . . . . . . ENSG00000196934:ENST00000434111:exon1:c.1186_1188del:p.396_396del RIMBP3C:uc002zuq.4:exon1:c.1186_1188del:p.396_396del . . . 0.6875 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000196934 RIMBP3C . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201364657 . . . . . . ID\x3dCOSM1415057\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs201364657 rs201364657 1 1538 10 1.I 0,11,16 +. 22 21740118 C G - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution synonymous exon GRCh37 21740118 21740118 Chr22(GRCh37):g.21740118C>G 1971 1971 NM_001128635.1:c.1971C>G p.Ala657= p.Ala657Ala 1 612700 transversion C G C>G 0.000 -2.781 A Ala GCC 0.403 A Ala GCG 0.107 657 253 PASS . . . . . . . . . . . ENSG00000196934:ENST00000434111:exon1:c.C1971G:p.A657A RIMBP3C:uc002zuq.4:exon1:c.C1971G:p.A657A . . . 0.33333334 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.5462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196934 RIMBP3C . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201550629 22 21741935 A C - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution missense exon GRCh37 21741935 21741935 Chr22(GRCh37):g.21741935A>C 3788 3788 NM_001128635.1:c.3788A>C p.Glu1263Ala p.Glu1263Ala 1 612700 rs201550629 yes no Frequency/1000G 2 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.882 2.223 E Glu GAA 0.417 A Ala GCA 0.226 1263 11 6 Megabat -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 231.61 17.80 Tolerated 0.12 III.14 good 8.573E-2 0.167 255 PASS 0.07 0.05 0.04 0.08 0.02 . . . . . . ENSG00000196934:ENST00000434111:exon1:c.A3788C:p.E1263A RIMBP3C:uc002zuq.4:exon1:c.A3788C:p.E1263A . . . 0.42857143 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.434 . @ . . . . . 1 0.285 . . 56.0 . . . . . . . . . . -0.4854 -0.498 -0.485 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.359 @ . . . 0.49 0.34 182 ENSG00000196934 RIMBP3C . . . . 0.001 0.078 . . . . . . . Uncertain_significance . 0 . 0.083 . . . . T 0.342 0.014 . . 37 . 0.007 . . 0.094 . . . 0.456 0.229 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.376 . . 0.319 . . . . . . 0 . . . . . . 0.301 . 0.168 . HET 0.01 rs201550629 . . . . . . . 0.050824175824175824 0.07317073170731707 0.03591160220994475 0.07867132867132867 0.022427440633245383 8.1515 . . III.22 III.22 . 0.600000 A6NNM3 . . . . . 0.239 . . III.22 . . . . . . . . . . . . . . . . . . . 0.246 . 1.481 1.481000 . . 0.600000 . . 1.0E-255 0.004 0.165 . 0.178 0.185 . 0.394 . 0.312 1.481 1.062 0.08 . . rs201550629 rs201550629 1 1538 10 1/0 0,255,255 +. 22 21741964 A G - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution missense exon GRCh37 21741964 21741964 Chr22(GRCh37):g.21741964A>G 3817 3817 NM_001128635.1:c.3817A>G p.Ser1273Gly p.Ser1273Gly 1 612700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.440 S Ser AGC 0.243 G Gly GGC 0.342 1273 11 7 Megabat 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 243.69 III.24 Tolerated 0.16 III.14 good 1.612E-1 0.02428 255 PASS . . . . . . . . . . . ENSG00000196934:ENST00000434111:exon1:c.A3817G:p.S1273G RIMBP3C:uc002zuq.4:exon1:c.A3817G:p.S1273G . . . 0.40677965 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.112 . . 59.0 . . . . . . . . . . -1.0334 -1.146 -1.033 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.077 @ . . . 0.39 0.31 182 ENSG00000196934 RIMBP3C . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.043 . . . . T 0.194 0.007 . . 37 . 0.148 . . 0.249 . . . 0.346 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.289 . . 0.250 . . . . . . 0 . . . . . . 0.083 . 0.016 . HET 0.01 . . . . . . . . . . . . . III.01 . . III.22 -1.71 . 0.190000 A6NNM3 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.284 -0.284000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.185 0.001 . 0.096 . 0.312 -0.284 0.126 . rs2242315 rs2242315 rs2242315 rs2242315 1 1538 10 1/0 0,255,255 +rs200259378 22 21742066 C A - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution missense exon GRCh37 21742066 21742066 Chr22(GRCh37):g.21742066C>A 3919 3919 NM_001128635.1:c.3919C>A p.Pro1307Thr p.Pro1307Thr 1 612700 rs200259378 yes no Frequency/1000G 2 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.016 -1.005 P Pro CCT 0.283 T Thr ACT 0.243 1307 11 4 White-tuffed-ear marmoset -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 233.89 0.00 Tolerated 0.31 III.14 good 6.038E-1 0.3248 255 PASS 0.57 0.75 0.8 0.89 0.74 . . . . . . ENSG00000196934:ENST00000434111:exon1:c.C3919A:p.P1307T RIMBP3C:uc002zuq.4:exon1:c.C3919A:p.P1307T . . . 0.7032967 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.202 . @ . . . . . 1 0.133 . . 91.0 . . . . . . . . . . -1.2559 -1.347 -1.256 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.044 @ . . . 0.34 0.31 182 ENSG00000196934 RIMBP3C . . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.074 . . . . T 0.113 0.005 . . 37 . 0.000 . . 0.167 . . . 0.339 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.219 . . 0.170 . . . . . . 0 . . . . . . 0.173 . 0.056 . HET 0.06 rs200259378 . . . . . . . 0.7504578754578755 0.5691056910569106 0.8038674033149171 0.8881118881118881 0.7387862796833773 V.43 . . 3.IX -3.46 . 0.360000 A6NNM3 . . . . . 0.047 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.734 -0.734000 . . 0.360000 . . 1.0E-255 0.000 0.063 . 0.153 0.006 . 0.024 . 0.082 -0.734 -0.392 0.89 rs2242314 rs2242314 rs2242314 rs200259378 1 1538 10 1/0 0,255,255 +rs879996719 22 21742245 C T - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution synonymous exon GRCh37 21742245 21742245 Chr22(GRCh37):g.21742245C>T 4098 4098 NM_001128635.1:c.4098C>T p.Gly1366= p.Gly1366Gly 1 612700 rs879996719 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.299 0.286 G Gly GGC 0.342 G Gly GGT 0.162 1366 255 PASS . . . . . . . . . . . ENSG00000196934:ENST00000434111:exon1:c.C4098T:p.G1366G RIMBP3C:uc002zuq.4:exon1:c.C4098T:p.G1366G . . . 0.6818182 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.0274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.23 182 ENSG00000196934 RIMBP3C . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs364215 rs364215 rs364215 rs364215 1 1538 10 1/0 0,255,255 +rs879200392 22 21822385 T C - TMEM191C 33601 Transmembrane protein 191C NM_001207052.1 1 1307 1044 NP_001193981.1 substitution intron GRCh37 21822385 21822385 Chr22(GRCh37):g.21822385T>C 421-56 421-56 NM_001207052.1:c.421-56T>C p.? p.? 3 2 -56 3' 75.069 4.943 0.388027 1.25149 75.069 4.943 0.388027 0 0 rs879200392 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.570 111 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.1592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 intronic . . . @ . . . . . . ENSG00000206140 TMEM191C TMEM191C . uc002zut.1:c.*239T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 10 1/0 90,2,0 +rs201052475 22 21900729 G A - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21900729 21900729 Chr22(GRCh37):g.21900729G>A 4537 4537 NM_001128633.1:c.4537C>T p.Arg1513Cys p.Arg1513Cys 1 612701 Src homology-3 domain rs201052475 no no 0 G 0.000000 0 0.000916 0.000000 0.000000 0.000000 0.000000 0.000000 0.011494 0.000000 0.000000 0.011494 4 0 0 0 0 0 4 0 0 4366 24 724 10 1036 1956 348 150 118 0.000916 0.000000 0.000000 0.000000 0.000000 0.000000 0.011494 0.000000 0.000000 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.976 1.255 R Arg CGC 0.190 C Cys TGC 0.552 1513 11 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 242.09 79.30 Deleterious 0.01 III.14 bad 1.695E-4 0.008852 255 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.C4537T:p.R1513C . . . 0.8181818 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.493 . @ . . . . . 1 0.920 . . 33.0 . . . . . . . . . . -0.2196 -0.239 -0.220 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.301 . . exonic exonic exonic . . 0.263 @ . . . 0.43 0.36 182 ENSG00000183246 RIMBP3C . . . . 0.007 0.114 . . . . . . . Uncertain_significance . 0 . 0.311 . . . . D 0.700 0.067 . . 37 . 0.126 . . 0.172 . . . 0.112 0.253 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.514 . . 0 0 0 0 0 0 . 0.537 . . 0.373 . . . . . . 0 0.473 . . . . . 0.240 . 0.318 . HOM 0.04 rs201052475 . . . . . . ID\x3dCOSM4004857\x3bOCCURENCE\x3d1(urinary_tract) . . . . . 7.0308 0.25 . III.28 II.13 . 0.020000 A6NJZ7 . . . . . 0.416 . . II.13 0 0.0009 0 0 0 0 0.0120 0 0 0 0 0 . 0 0 0 . . . 0.133 . 1.825 1.825000 . . 0.020000 . . 1.0E-255 0.004 0.165 . 0.140 0.521 . 0.188 . 0.653 1.825 -0.045 . rs469096 rs469096 rs469096 rs201052475 1 1538 10 1/0 0,255,255 +. 22 21900815 C T - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21900815 21900815 Chr22(GRCh37):g.21900815C>T 4451 4451 NM_001128633.1:c.4451G>A p.Arg1484Lys p.Arg1484Lys 1 612701 Src homology-3 domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2040 6 444 0 384 1012 108 10 76 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 50 Exomes transition G A G>A 1.000 3.434 R Arg AGG 0.207 K Lys AAG 0.575 1484 11 3 Macaque 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 242.52 XII.95 Tolerated 0.25 III.14 good 4.687E-1 0.09803 225 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.G4451A:p.R1484K . . . 0.23076923 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.561 . @ . . . . . 1 0.463 . . 65.0 . . . . . . . . . . -0.2279 -0.078 -0.228 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.288 . . exonic exonic exonic . . 0.365 @ . . . 0.54 0.43 182 ENSG00000183246 RIMBP3C . . . . 0.954 0.281 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.331 0.014 . . 37 . 0.185 . . 0.195 . . . 0.065 0.236 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.080 . . 0 0 0 0 0 0 . 0.144 . . 0.154 . . . . . . 0 0.531 . . . . . 0.420 . 0.193 . HET 0.04 . . . . . . . . . . . . . 10.1846 . . III.28 III.28 . 0.040000 A6NJZ7 . . . . . 0.697 . . III.28 0 0 0 . 0 0 0 0 0 . . . . . . . . . . 0.133 . 1.825 1.825000 . . 0.040000 . . 1.0E-225 1.000 0.715 . 0.444 0.700 . 0.676 . 0.430 1.825 0.871 . rs468931 rs468931 rs468931 rs468931 1 1538 10 1/0 0,255,255 +rs879976469 22 21901095 G A - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21901095 21901095 Chr22(GRCh37):g.21901095G>A 4171 4171 NM_001128633.1:c.4171C>T p.Arg1391Trp p.Arg1391Trp 1 612701 rs879976469 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 4 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -0.360 R Arg CGG 0.207 W Trp TGG 1.000 1391 11 2 Rat -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Tolerated 0.12 III.48 good 8.407E-1 0.1106 111 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.C4171T:p.R1391W . . . 1.0 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.049 . . 8.0 . . . . . . . . . . -1.7015 -1.685 -1.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . 0.151 @ . . . 0.41 0.42 182 ENSG00000183246 RIMBP3C . . . . 0.002 0.088 . . . . . . . Uncertain_significance . 0 . 0.062 . . . . D 0.703 0.068 . . 37 . 0.095 . . 0.311 . . . 0.003 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.183 . 0.157 . HOM 0.15 . . . . . . . . . . . . . V.11 . . II.62 0.322 . 0.250000 A6NJZ7 . . . . . 0.004 . . . . 0 . . 0 . . . 0 . . . . . . . . . . 0.133 . -0.470 -0.470000 . . 0.250000 . . 1.0E-111 0.000 0.063 . 0.016 0.001 . 0.174 . 0.047 -0.470 -0.386 . rs861802 rs861802 rs861802 rs861802 1 1538 255 1.I 0,0,255 +rs364215 22 21901168 G A - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution synonymous exon GRCh37 21901168 21901168 Chr22(GRCh37):g.21901168G>A 4098 4098 NM_001128633.1:c.4098C>T p.Gly1366= p.Gly1366Gly 1 612701 rs364215 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 8 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1899 Exomes transition C T C>T 0.016 0.448 G Gly GGC 0.342 G Gly GGT 0.162 1366 255 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.C4098T:p.G1366G . . . 0.75 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.1416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.37 182 ENSG00000183246 RIMBP3C . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs364215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs364215 rs364215 rs364215 rs364215 1 1538 10 1/0 0,255,255 +rs2242314 22 21901347 G T - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21901347 21901347 Chr22(GRCh37):g.21901347G>T 3919 3919 NM_001128633.1:c.3919C>A p.Pro1307Thr p.Pro1307Thr 1 612701 rs2242314 yes no Frequency/1000G 2 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 0 2 20 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.173 -0.924 P Pro CCT 0.283 T Thr ACT 0.243 1307 11 4 White-tuffed-ear marmoset -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 233.89 0.00 Tolerated 0.31 III.14 good 6.038E-1 0.3248 255 PASS 0.57 0.76 0.83 0.83 0.79 . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.C3919A:p.P1307T . . . 0.7586207 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.178 . . 87.0 . . . . . . . . . . -1.3429 -1.477 -1.343 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.024 @ . . . 0.44 0.35 182 ENSG00000183246 RIMBP3C . . . . 0.064 0.153 . . . . . . . Uncertain_significance . 0 . 0.074 . . . . D 0.536 0.031 . . 37 . 0.000 . . 0.215 . . . 0.339 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.262 . . 0 0 0 0 0 0 . 0.219 . . 0.170 . . . . . . 0 0.421 . . . . . 0.114 . 0.065 . HOM 0.06 rs2242314 . . . . . . . 0.7564102564102564 0.5650406504065041 0.8342541436464088 0.8286713286713286 0.7889182058047494 IV.35 . . 2.VIII -5.43 . 0.310000 A6NJZ7 . . . . . 0.059 . . . . 0 . . 0 . . . 0 . . . . . . . . . . 0.246 . -1.310 -1.310000 . . 0.310000 . . 1.0E-255 0.000 0.063 . 0.157 0.006 . 0.028 . 0.114 -1.310 -0.327 0.83 rs2242314 rs2242314 rs2242314 rs199678571 1 1538 10 1/0 0,255,255 +. 22 21901449 T C - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21901449 21901449 Chr22(GRCh37):g.21901449T>C 3817 3817 NM_001128633.1:c.3817A>G p.Ser1273Gly p.Ser1273Gly 1 612701 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 1322 Exomes transition A G A>G 0.000 -0.763 S Ser AGC 0.243 G Gly GGC 0.342 1273 11 7 Megabat 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 243.69 III.24 Tolerated 0.16 III.14 good 1.612E-1 0.02428 255 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.A3817G:p.S1273G . . . 0.40625 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.238 . . 64.0 . . . . . . . . . . -1.1006 -1.232 -1.101 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.062 @ . . . 0.45 0.47 182 ENSG00000183246 RIMBP3C . . . . 0.004 0.105 . . . . . . . Uncertain_significance . 0 . 0.043 . . . . D 0.707 0.069 . . 37 . 0.174 . . 0.206 . . . 0.346 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.397 . . 0 0 0 0 0 0 . 0.289 . . 0.250 . . . . . . 0 0.486 . . . . . 0.084 . 0.018 . HET 0.01 . . . . . . . . . . . . . III.46 . . 2.VIII -2.4 . 0.190000 A6NJZ7 . . . . . 0.036 . . . . 0 0 . . . . . . . . . . . . . . . . 0.246 . -0.473 -0.473000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.148 0.001 . 0.097 . 0.217 -0.473 0.079 . rs2242315 rs2242315 rs2242315 rs2242315 1 1538 10 1/0 0,255,255 +. 22 21901478 T G - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21901478 21901478 Chr22(GRCh37):g.21901478T>G 3788 3788 NM_001128633.1:c.3788A>C p.Glu1263Ala p.Glu1263Ala 1 612701 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1314 Exomes transversion A C A>C 0.921 1.981 E Glu GAA 0.417 A Ala GCA 0.226 1263 11 6 Megabat -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 231.61 17.80 Tolerated 0.12 III.14 good 8.573E-2 0.167 255 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.A3788C:p.E1263A . . . 0.5 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.215 . @ . . . . . 1 0.380 . . 60.0 . . . . . . . . . . -0.4556 -0.458 -0.456 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.317 @ . . . . . . ENSG00000183246 RIMBP3C . . . . 0.057 0.151 . . . . . . . Uncertain_significance . 0 . 0.083 . . . . D 0.534 0.031 . . 37 . 0.158 . . 0.118 . . . 0.456 0.232 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.571 . . 0 0 0 0 0 0 . 0.376 . . 0.319 . . . . . . 0 0.187 . . . . . 0.255 . 0.192 . HET 0.01 . . . . . . . . . . . . . VII.18 . . 2.VIII 2.VIII . 0.580000 A6NJZ7 . . . . . 0.301 . . 2.VIII . 0 0 . . . . . . . . . . . . . . . . 0.246 . 1.279 1.279000 . . 0.580000 . . 1.0E-255 0.998 0.411 . 0.192 0.105 . 0.578 . 0.663 1.279 0.991 . . . . . 1 1538 10 1/0 0,255,255 +. 22 21904074 TCTC T - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 deletion in-frame exon GRCh37 21904075 21904077 Chr22(GRCh37):g.21904075_21904077del 1189 1191 NM_001128633.1:c.1189_1191del p.Glu397del p.Glu397del 1 612701 GAG 255 Pass . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.1189_1191del:p.397_397del . . . 0.52 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000183246 RIMBP3C . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,28 +. 22 21904074 TCTC T - UBE2L3 12488 Ubiquitin-conjugating enzyme E2L 3 NM_001256355.1 1 3007 639 NP_001243284.1 deletion intron GRCh37 21904078 21904080 Chr22(GRCh37):g.21904078_21904080del 201+139 201+141 NM_001256355.1:c.201+139_201+141del p.? p.? 1 1 603721 139 5' 76.9891 6.35803 0.599511 4.72321 76.9891 6.35803 0.599511 4.72321 0 CTC 255 Pass . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.1189_1191del:p.397_397del . . . 0.52 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000183246 RIMBP3C . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,28 +rs4050831 22 22661395 C T - BMS1P20 49153 BMS1 pseudogene 20 NR_027293.1 1 2011 0 substitution intron GRCh37 22661395 22661395 Chr22(GRCh37):g.22661395C>T 475-76 475-76 NR_027293.1:n.475-76C>T p.? p.? 5 4 -76 3' 79.4084 X.86 0.949528 13.8113 79.4084 X.86 0.949528 13.7643 0 rs4050831 no no 0 0.000000 0 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30870 8692 832 302 1612 0 14962 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.961 -0.279 176 PASS . . . . . . . . . . . . . . . . 0.105820104 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 189.0 . . INTRON(MODIFIER||||BMS1P20|Non-coding_transcript|NON_CODING|NR_027293|) . . . . . . . 0.3077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.1 0.06 182 . . BMS1P20 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs4050831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.239e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs3882275 rs3882275 rs3882275 rs3882275 1 1538 10 1/0 0,199,255 +rs574597848 22 22661517 G A - BMS1P20 49153 BMS1 pseudogene 20 NR_027293.1 1 2011 0 substitution exon GRCh37 22661517 22661517 Chr22(GRCh37):g.22661517G>A 521 521 NR_027293.1:n.521G>A 5 47 3' 79.4084 X.86 0.949528 13.8113 79.4084 X.86 0.949528 13.1724 0 rs574597848 yes no Frequency/1000G 2 0.000599 A 3 0.000599 0.000000 0.000000 0.003000 0.000000 0.000000 0.001617 0.001671 0.005747 0.000000 0.001585 0.000000 0.001262 0.002813 0.000000 0.005747 43 12 4 0 2 0 17 8 0 26594 7182 696 292 1262 0 13468 2844 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 12 4 0 2 0 17 8 0 0 0 0 0 0 0 0 0 0 RF 53 Genomes transition G A G>A 0.992 1.658 214 PASS . . . . . . 0.0006 . 0.003 . . . . . . . 0.19672132 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R174Q|BMS1P20|Non-coding_transcript|NON_CODING|NR_027293|NR_027293.ex.5) . . . . . . . 0.6594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0006 . . . 0.22 0.22 182 . . BMS1P20 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs574597848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0016 0.0057 0 0.0016 0.0028 0.0013 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,255 +rs139643222 (chr22:22730851 A/G) 22 22730851 A G Not on a known gene +rs149708215 (chr22:22730852 T/C) 22 22730852 T C Not on a known gene +rs200803951 (chr22:22730853 G/C) 22 22730853 G C Not on a known gene +rs776411706 (chr22:22735316 A/G) 22 22735316 A G Not on a known gene +rs372395638 (chr22:22782069 C/T) 22 22782069 C T Not on a known gene +rs148128345 22 22989594 G C - GGTLC2 18596 Gamma-glutamyltransferase light chain 2 NM_001282879.1 1 978 759 NP_001269808.1 substitution missense exon GRCh37 22989594 22989594 Chr22(GRCh37):g.22989594G>C 446 446 NM_001282879.1:c.446G>C p.Arg149Pro p.Arg149Pro 4 612339 142 3' 75.9841 7.96602 0.446839 X.68 75.9841 7.96602 0.446839 X.68 0 Cryptic Acceptor Weakly Activated 22989611 6.74062 0.033655 71.6956 7.08513 0.047569 71.6956 rs148128345 yes no Frequency 1 0.000000 0 0.000145 0.000042 0.000174 0.000000 0.000000 0.000780 0.000063 0.000039 0.000000 0.000780 40 1 6 0 0 24 8 1 0 276692 24010 34414 10136 18856 30752 126282 25788 6454 0.000014 0.000000 0.000058 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 2 0 1 0 0 1 0 0 0 36 1 4 0 0 22 8 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 87 transversion G C G>C 0.142 -0.602 R Arg CGT 0.082 P Pro CCT 0.283 149 12 1 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . . GGTLC2:uc010gts.2:exon3:c.G446C:p.R149P GGTLC2:NM_001282879:exon4:c.G446C:p.R149P . . 0.10526316 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 76.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.3994 . . . . . . . . 2.526e-04 . . . 9.649e-05 0.0003 8.661e-05 0 0.0003 7.139e-05 0 0.0012 0.0001 0.0003 8.93e-05 0 0.0003 0.0001 0 0.0012 . nonsynonymous_SNV nonsynonymous_SNV . . . intronic exonic exonic . . . @ . . . 0.19 0.17 182 ENSG00000100121 GGTLC2 GGTLC2 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0.13 rs148128345 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 6.536e-05 0.0002 0.0002 0 0 4.485e-05 6.288e-05 0 0.0008 0 3.238e-05 0 0 0 0 6.688e-05 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . 0.0001 . . rs148128345 rs148128345 1 1538 10 1/0 0,238,255 +rs750997223 22 22989602 C T - GGTLC2 18596 Gamma-glutamyltransferase light chain 2 NM_001282879.1 1 978 759 NP_001269808.1 substitution missense exon GRCh37 22989602 22989602 Chr22(GRCh37):g.22989602C>T 454 454 NM_001282879.1:c.454C>T p.Pro152Ser p.Pro152Ser 4 612339 150 3' 75.9841 7.96602 0.446839 X.68 75.9841 7.96602 0.446839 X.68 0 Cryptic Acceptor Strongly Activated 22989611 6.74062 0.033655 71.6956 7.00227 0.051228 74.4074 rs750997223 yes no Frequency 1 0.000000 0 0.000011 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000039 0.000155 0.000039 3 0 1 0 0 0 0 1 1 276728 24014 34416 10132 18856 30782 126278 25794 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.961 1.335 P Pro CCT 0.283 S Ser TCT 0.185 152 12 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Not scored 0.0 0.0 178 PASS . . . . . . . . . . . . GGTLC2:uc010gts.2:exon3:c.C454T:p.P152S GGTLC2:NM_001282879:exon4:c.C454T:p.P152S . . 0.10958904 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . . . . . . . -0.4557 . . . . . . . . 4.736e-05 . . . 0 1.105e-05 0 0 0.0003 0 0 0 0 4.713e-05 0 0 0.0002 7.368e-05 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . intronic exonic exonic . . . @ . . . . . . ENSG00000100121 GGTLC2 GGTLC2 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF 1 rs750997223 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.136e-06 0 0 0 4.484e-05 0 0.0002 0 0 3.236e-05 0.0012 0 0 0 0 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs62225862 22 22989680 G A - GGTLC2 18596 Gamma-glutamyltransferase light chain 2 NM_001282879.1 1 978 759 NP_001269808.1 substitution missense exon GRCh37 22989680 22989680 Chr22(GRCh37):g.22989680G>A 532 532 NM_001282879.1:c.532G>A p.Val178Met p.Val178Met 4 612339 -81 5' 79.7784 8.06623 0.846676 8.56696 79.7784 8.06623 0.846676 8.56696 0 rs62225862 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000025 0.000199 0.000060 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000199 6 3 2 0 0 0 1 0 0 244464 15062 33542 9780 17178 30724 110486 22256 5436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transition G A G>A 0.992 -0.198 V Val GTG 0.468 M Met ATG 1.000 178 12 7 Frog 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 30.92 0.00 Deleterious 0.03 III.15 195 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.14705883 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.160 . @ . . . . . 1 0.148 . . 68.0 . . . . . . . . . . -0.8656 -0.994 -0.866 c . . . . . 2.371e-05 . . . 0.0002 3.512e-05 0 0 0 2.548e-05 0 0 0.0002 2.983e-05 0 0 0 1.939e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . . 0.0002 . . . 0.13 0.15 182 ENSG00000100121 GGTLC2 GGTLC2 . . . 0.007 0.115 . . . . . . . Uncertain_significance . 0 . 0.353 . . . . T 0.038 0.002 . . 37 . 0.072 . . 0.248 . . . 0.426 0.245 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.295 . . 0.295 . . . . . . 0 0.450 . . . . . 0.110 . 0.094 . LowAF 0 rs62225862 . . . . . . . . . . . . IV.95 2.68E-4 . . . . 0.060000 . . . . . . 0.156 . . . 0.0002 2.454e-05 5.963e-05 0 0 0 9.051e-06 0 0 . . . . . . . . . . 0.428 . -0.000 -0.000000 . . 0.060000 . . 9.999999999999999E-196 1.000 0.715 . 0.216 . . 0.301 . 0.018 -0.000 . . rs62225862 rs62225862 rs61744982 rs61744982 1 1538 10 1/0 0,247,255 +rs417200 22 24397824 A G - GSTTP1 26930 Glutathione S-transferase theta pseudogene 1 NR_003081.1 -1 698 0 substitution intron GRCh37 24397824 24397824 Chr22(GRCh37):g.24397824A>G 206-1449 206-1449 NR_003081.1:n.206-1449T>C p.? p.? 3 2 -1449 3' 65.0468 5.97413 0.016143 5.72006 65.0468 5.97413 0.016143 5.72006 0 rs417200 yes no Frequency 1 A 0.000000 0 0.002285 0.002657 0.001689 0.005376 0.000000 0.000000 0.002830 0.000000 0.003676 0.005376 45 18 1 1 0 0 23 0 2 19696 6774 592 186 1296 0 8128 2176 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 18 1 1 0 0 23 0 2 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition T C T>C 0.000 -0.844 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||GSTTP2|Non-coding_transcript|NON_CODING|NR_003082|) . . . . . . . -0.4887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.31 182 ENSG00000239334 GSTTP2 GSTTP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs117113776 0.141 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0023 0.0017 0.0054 0 0 0.0028 0.0037 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.14 rs417200 rs417200 rs417200 rs117113776 1 1538 255 1.I 0,0,255 +rs417200 22 24397824 A G - GSTTP2 33606 Glutathione S-transferase theta pseudogene 2 NR_003082.1 -1 2070 0 substitution intron GRCh37 24397824 24397824 Chr22(GRCh37):g.24397824A>G 1362-1449 1362-1449 NR_003082.1:n.1362-1449T>C p.? p.? 3 2 -1449 3' 65.0468 5.97413 0.016143 5.84651 65.0468 5.97413 0.016143 5.84651 0 rs417200 yes no Frequency 1 A 0.000000 0 0.002285 0.002657 0.001689 0.005376 0.000000 0.000000 0.002830 0.000000 0.003676 0.005376 45 18 1 1 0 0 23 0 2 19696 6774 592 186 1296 0 8128 2176 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 18 1 1 0 0 23 0 2 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition T C T>C 0.000 -0.844 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||GSTTP2|Non-coding_transcript|NON_CODING|NR_003082|) . . . . . . . -0.4887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.31 182 ENSG00000239334 GSTTP2 GSTTP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs117113776 0.141 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0023 0.0017 0.0054 0 0 0.0028 0.0037 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.14 rs417200 rs417200 rs417200 rs117113776 1 1538 255 1.I 0,0,255 +rs3966475 22 24655864 A G - POM121L9P 30080 POM121 transmembrane nucleoporin-like 9, pseudogene NR_003714.1 1 5224 0 substitution intron GRCh37 24655864 24655864 Chr22(GRCh37):g.24655864A>G 2156-1012 2156-1012 NR_003714.1:n.2156-1012A>G p.? p.? 5 4 -1012 3' 72.9572 7.32487 0.513843 3.87527 72.9572 7.32487 0.513843 3.87527 0 rs3966475 no no 0 A 0.000000 0 0.001256 0.001679 0.001348 0.000000 0.002976 0.000000 0.000958 0.000607 0.002227 0.002976 35 13 1 0 4 0 13 2 2 27868 7744 742 280 1344 0 13566 3294 898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 13 1 0 4 0 13 2 2 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition A G A>G 0.000 -0.521 222 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||POM121L9P|Non-coding_transcript|NON_CODING|NR_003714|) . . . . . . . -0.4167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000128262 POM121L9P POM121L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0013 0.0013 0 0.0030 0.0006 0.0010 0.0022 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2330834 22 25003821 A G - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25003821 25003821 Chr22(GRCh37):g.25003821A>G -528 -528 NM_001288833.1:c.-428-100A>G p.? p.? 2 1 612346 -100 3' 82.8262 10.1541 0.951119 7.916 82.8262 10.1541 0.951119 7.916 0 rs2330834 no no 0 A 0.000000 0 0.000552 0.000461 0.010766 0.000000 0.001239 0.000000 0.000067 0.000287 0.000000 0.010766 17 4 9 0 2 0 1 1 0 30794 8676 836 302 1614 0 14912 3480 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 4 9 0 2 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition A G A>G 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.37037036 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.4 182 . GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2330834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0.0108 0 0.0012 0.0003 6.706e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2330834 rs2330834 rs2330834 rs2330834 1 1538 10 1/0 0,255,255 +. 22 25003852 GGC G - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 deletion intron GRCh37 25003854 25003855 Chr22(GRCh37):g.25003854_25003855del -495 -494 NM_001288833.1:c.-428-67_-428-66del p.? p.? 2 1 612346 -66 3' 82.8262 10.1541 0.951119 7.916 82.8262 10.1541 0.951119 8.59156 0 rs3033885 no no 0 0.000000 0 0.000162 0.000000 0.005981 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.005981 5 0 5 0 0 0 0 0 0 30794 8706 836 300 1622 0 14870 3486 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes CG 255 Pass . . . . . . . . . . . . . . . . 0.42222223 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3033885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0060 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3033885 rs3033885 rs3033885 rs3033885 1 1538 10 1.I 0,12,37 +rs2330835 22 25003859 G T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25003859 25003859 Chr22(GRCh37):g.25003859G>T -490 -490 NM_001288833.1:c.-428-62G>T p.? p.? 2 1 612346 -62 3' 82.8262 10.1541 0.951119 7.916 82.8262 10.1541 0.951119 7.34404 0 rs2330835 yes no Frequency 1 G 0.000000 0 0.000163 0.000000 0.005995 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.005995 5 0 5 0 0 0 0 0 0 30764 8694 834 302 1622 0 14854 3486 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transversion G T G>T 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.1701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.35 182 . GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2330835 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0060 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs2330835 rs2330835 rs2330835 rs2330835 1 1538 10 1/0 0,255,255 +rs2010657 22 25003922 G A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution 5'UTR GRCh37 25003922 25003922 Chr22(GRCh37):g.25003922G>A -427 -427 NM_001288833.1:c.-427G>A p.? p.? 2 612346 2 3' 82.8262 10.1541 0.951119 7.916 82.8262 8.81648 0.936252 6.45559 -0.0491196 New Acceptor Site 25003924 9.54821 0.952478 rs2010657 yes no Frequency 1 G 0.000000 0 0.000355 0.000664 0.000288 0.000000 0.003315 0.000179 0.000044 0.000000 0.000000 0.003315 61 10 7 0 37 4 3 0 0 171932 15050 24266 8370 11162 22398 67498 18512 4676 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 10 7 0 37 4 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.46031746 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . 0.1257 . . . . . . . . 1.490e-04 . . . 0.0011 0.0002 0.0035 0 0 0 0 0.0001 0.0025 0.0002 0 0 0 0 0 0.0001 . . . . . . UTR5\x3bUTR3 UTR5 UTR5 . . . @ . . . 0.58 0.59 182 ENSG00000100031\x3bENSG00000100028 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs2010657 0.043 0.029 . . . . . . . . . . . . . . . . . . 0.0002 0.008 . . . . . . . 0.0009 0.0004 0.0003 0 0.0039 0 0 0 0.0002 0.0005 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs2010657 rs2010657 rs2010657 rs2010657 1 1538 10 1/0 0,255,255 +rs149660004 22 25005953 G A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution 5'UTR GRCh37 25005953 25005953 Chr22(GRCh37):g.25005953G>A -337 -337 NM_001288833.1:c.-337G>A p.? p.? 3 612346 22 3' 0 0.977495 0.002419 0 0 0.977495 0.002419 0 0 rs149660004 yes no Frequency 1 G 0.000000 0 0.000087 0.000071 0.000000 0.000000 0.000195 0.000000 0.000175 0.000000 0.000000 0.000195 10 1 0 0 2 0 7 0 0 114574 14142 16328 3338 10260 11900 39952 15460 3194 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 1 0 0 2 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.440 240 PASS . . . . . . . . . . . . . . . . 0.28125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.1750 . . . . . . . . 6.143e-05 . . . 0 0.0003 0 0 0 0.0006 0 0 . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.61 0.49 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149660004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.949e-05 0 0 0 0 0.0002 0 0 0.0001 0.0002 0 0 0.0012 0 0.0001 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs149660004 rs149660004 1 1538 10 1/0 0,255,255 +rs146905762 22 25005956 A T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution 5'UTR GRCh37 25005956 25005956 Chr22(GRCh37):g.25005956A>T -334 -334 NM_001288833.1:c.-334A>T p.? p.? 3 612346 25 3' 0 0.977495 0.002419 0 0 0.977495 0.002419 0 0 Cryptic Acceptor Strongly Activated 25005962 4.38324 0.199939 81.3264 7.32163 0.764335 86.9578 rs146905762 no no 0 A 0.000000 0 0.000035 0.000071 0.000000 0.000000 0.000293 0.000000 0.000000 0.000000 0.000000 0.000293 4 1 0 0 3 0 0 0 0 113342 14128 16130 3254 10240 11504 39542 15380 3164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 0.044 244 PASS . . . . . . . . . . . . . . . . 0.2962963 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.2080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.58 0.41 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146905762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.208e-05 0 0 0.0001 0 0 0 0 0.0001 9.815e-05 0 0 0.0012 0 0 0 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs146905762 rs146905762 1 1538 10 1/0 0,255,255 +rs139163542 22 25006958 C T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25006958 25006958 Chr22(GRCh37):g.25006958C>T -91 -91 NM_001288833.1:c.-7-84C>T p.? p.? 5 4 612346 -84 3' 69.2292 4.06227 0.009514 2.19321 69.2292 4.06227 0.009514 2.19321 0 rs139163542 yes no Frequency/1000G 2 C 0.000000 0 0.002049 0.000581 0.000000 0.000000 0.009235 0.000000 0.002532 0.001455 0.001040 0.009235 62 5 0 0 14 0 37 5 1 30260 8602 830 300 1516 0 14614 3436 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 5 0 0 14 0 37 5 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.000 -2.216 237 PASS 0.05 0.04 0.04 0.02 0.06 . . . . . . . . . . . 0.27027026 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.7635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.15 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139163542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0020 0 0 0.0092 0.0015 0.0025 0.0010 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.06 . . rs139163542 rs139163542 1 1538 10 1/0 0,255,255 +rs4049895 22 25007008 A G - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25007008 25007008 Chr22(GRCh37):g.25007008A>G -41 -41 NM_001288833.1:c.-7-34A>G p.? p.? 5 4 612346 -34 3' 69.2292 4.06227 0.009514 2.19321 69.2292 4.06227 0.009514 2.15548 0 rs4049895 yes no Frequency/1000G 2 G 0.000000 0 0.016174 0.002300 0.020400 0.006000 0.033800 0.025900 0.001682 0.001851 0.000832 0.000563 0.007371 0.001341 0.001548 0.000269 0.001449 0.007371 371 35 25 5 112 34 146 6 8 220588 18906 30058 8888 15194 25358 94330 22334 5520 0.000018 0.000000 0.000000 0.000000 0.000132 0.000079 0.000000 0.000000 0.000000 2 0 0 0 1 1 0 0 0 367 35 25 5 110 32 146 6 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.198 248 PASS . . . . . 0.0023 0.016 0.026 0.006 0.034 0.02 . . . . . 0.3043478 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.3552 . . . . . . . . 1.231e-03 . . . 0.0016 0.0026 0.0019 0.0018 0 0.0037 0.0036 0.0018 0.0013 0.0023 0.0020 0.0012 0.0004 0.0032 0.0076 0.0018 . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.36 0.13 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4049895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0016 0.0008 0.0006 0.0073 0.0002 0.0015 0.0018 0.0013 0.0024 0.0022 0.0012 0 0.0081 0.0006 0.0020 0 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . rs4049895 rs4049895 rs4049895 rs4049895 1 1538 10 1/0 0,255,255 +rs113107930 22 25010979 C T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25010979 25010979 Chr22(GRCh37):g.25010979C>T 296-29 296-29 NM_001288833.1:c.296-29C>T p.? p.? 7 6 612346 -29 3' 86.231 12.508 0.985156 XII.36 86.231 12.508 0.985156 13.3153 0 Cryptic Donor Strongly Activated 25010977 54.3712 2.89397 0.024035 66.6896 rs113107930 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000119 0.000044 0.000029 0.000000 0.000107 0.000230 0.000156 0.000039 0.000159 0.000230 32 1 1 0 2 7 19 1 1 269608 22816 34058 9896 18664 30448 121884 25534 6308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 1 1 0 2 7 19 1 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes 8138 3718 11856 0 2 2 0 0.000537634 0.000168663 0 0.000537634 0.000168663 12 transition C T C>T 0.000 -0.763 114 PASS 0.02 0.02 0.03 0.03 0.02 . 0.0004 . 0.002 . . . . . . . 0.10227273 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . . 0.0005 0.0002 . 0.0005 0.0002 . . -0.2155 . . . . . . . . 2.078e-04 . . . 0.0002 0.0002 9.076e-05 0.0007 0 8.205e-05 0 0.0003 0.0001 0.0002 9.339e-05 0.0004 0 0.0002 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.3 0.16 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs113107930 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . 0.000169 . . . . . 7.051e-05 0.0001 3.008e-05 0 0.0001 4.521e-05 0.0002 0.0002 0.0002 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-114 . . . . . . . . . . . 0.03 . . rs113107930 rs113107930 1 1538 10 1/0 0,235,255 +rs112364951 22 25011027 C T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution synonymous exon GRCh37 25011027 25011027 Chr22(GRCh37):g.25011027C>T 315 315 NM_001288833.1:c.315C>T p.Asn105= p.Asn105Asn 7 612346 20 3' 86.231 12.508 0.985156 XII.36 86.231 12.508 0.982517 XII.23 -0.000892921 rs112364951 yes no Frequency 1 T 0.000000 0 0.000087 0.000085 0.000058 0.000099 0.000000 0.000163 0.000096 0.000039 0.000156 0.000163 24 2 2 1 0 5 12 1 1 274428 23436 34398 10064 18838 30760 124732 25786 6414 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 2 2 1 0 5 12 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1308015|COSM1308015 Urinary tract|Central nervous system 0.001488|0.001663 672|2405 transition C T C>T 0.961 -0.682 N Asn AAC 0.536 N Asn AAT 0.464 105 175 PASS . . . . . . . . . . . . . . . . 0.102564104 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . 0.3850 . . . . . . . . 1.518e-04 . . . 0.0006 0.0002 8.76e-05 0.0002 0 7.737e-05 0 0.0002 0.0005 9.8e-05 9.016e-05 0.0001 0 1.923e-05 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.19 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112364951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.154e-05 5.958e-05 0.0001 0 4.486e-05 3.637e-05 0 0.0002 0 0.0003 0 0 0 0 0.0005 0.0010 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs112364951 rs112364951 1 1538 10 1/0 0,207,255 +rs201397128 22 25023471 C A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution missense exon GRCh37 25023471 25023471 Chr22(GRCh37):g.25023471C>A 1093 1093 NM_001288833.1:c.1093C>A p.Pro365Thr p.Pro365Thr 12 612346 73 3' 75.8679 5.65508 0.750599 4.43616 75.8679 5.65508 0.750599 4.67025 0 rs201397128 no no 0 C 0.000000 0 COSM4156068|COSM4156068 Thyroid|Kidney 0.004016|0.000578 747|1729 transversion C A C>A 0.866 2.304 P Pro CCG 0.115 T Thr ACG 0.116 365 12 7 Fruitfly -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 226.93 0.00 Tolerated 0.59 II.87 242 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.063 . @ . . . . . 1 0.098 . . 17.0 . . . . . . . . . . -0.8032 -0.873 -0.803 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.067 . . exonic exonic exonic . . 0.194 @ . . . 0.35 0.5 182 ENSG00000100031 GGT1 GGT1 . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.165 0.006 . . 37 . 0.080 . . 0.164 . . . 0.501 0.314 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.636 . . 0 0 0 0 0 0 . 0.272 . . 0.255 . . . . . . 0 0.242 . . . . . 0.557 . 0.402 . HET 0.03 rs201397128 . . . . . . . . . . . . XII.07 . . III.54 1.IX . 0.360000 P19440 . . . . . 0.302 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.791 0.791000 . . 0.360000 . . 1.0E-242 0.012 0.185 . 0.135 0.259 . 0.434 . 0.383 0.791 0.853 . . . rs201397128 rs201397128 1 1538 10 1/0 0,255,255 +rs71318991 22 25023492 G A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution missense exon GRCh37 25023492 25023492 Chr22(GRCh37):g.25023492G>A 1114 1114 NM_001288833.1:c.1114G>A p.Glu372Lys p.Glu372Lys 12 612346 94 3' 75.8679 5.65508 0.750599 4.43616 75.8679 5.65508 0.750599 4.43616 0 rs71318991 yes no Frequency/1000G 2 G 0.000000 0 0.005990 0.000000 0.016400 0.002000 0.008000 0.005800 0.009219 0.002641 0.005059 0.012062 0.000424 0.014254 0.012182 0.005860 0.008685 0.014254 2543 63 174 122 8 438 1531 151 56 275838 23852 34394 10114 18850 30728 125682 25770 6448 0.000138 0.000000 0.000058 0.000198 0.000000 0.000456 0.000143 0.000078 0.000000 19 0 1 1 0 7 9 1 0 2505 63 172 120 8 424 1513 149 56 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8455 4386 12841 121 12 133 0.0141091 0.00272851 0.0102513 0.0141091 0.00272851 0.0102513 31 COSM1600222|COSM1600222|COSM1600222 Thyroid|Liver|Central nervous system 0.002677|0.000422|0.000416 747|2371|2405 transition G A G>A 0.984 2.465 E Glu GAG 0.583 K Lys AAG 0.575 372 12 5 Chicken 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 236.23 36.47 Tolerated 0.87 II.87 233 PASS . . . . . . 0.006 0.0058 0.002 0.008 0.016 . . . . . 0.2631579 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.295 . @ . . . . . 1 0.923 . . 19.0 . . . 0.0027 0.01 0.014 0.0027 0.01 0.014 . -0.3529 -0.271 -0.353 c . . . . . 9.167e-03 . . . 0.0027 0.0104 0.0042 0.0009 0.0065 0.0138 0.0116 0.0149 0.0028 0.0089 0.0041 0 0.0066 0.0105 0.0104 0.0148 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.061 . . exonic exonic exonic . . 0.395 0.0060 . . . 0.47 0.56 182 ENSG00000100031 GGT1 GGT1 . . . 0.000 0.070 . . . . . . . Uncertain_significance . 0 . 0.286 . . . . . . . . . 37 . 0.030 . . 0.156 . . . 0.370 0.298 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.308 . . 0.263 . . . . . . 0 0.202 . . . . . 0.333 . 0.507 . HET 0.04 rs71318991 . . . . . . . . . . . . VIII.79 0.003489 . III.54 III.54 . 0.840000 P19440 . . . 0.010251 . 0.517 . . III.54 0.0023 0.0093 0.0049 0.0123 0.0005 0.0058 0.0121 0.0088 0.0143 0.0032 0.0084 0.0096 0.0035 0 0.0063 0.0130 0.0082 . . 0.609 . 1.992 1.992000 . . 0.840000 . . 1.0000000000000001E-233 1.000 0.715 . 0.148 0.152 . 0.607 . 0.597 1.992 0.609 0.014 . rs71318991 rs71318991 rs71318991 1 1538 10 1/0 0,255,255 +rs74279113 22 25024040 G A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25024040 25024040 Chr22(GRCh37):g.25024040G>A 1337-8 1337-8 NM_001288833.1:c.1337-8G>A p.? p.? 14 13 612346 -8 3' 75.9841 8.54149 0.561341 XI.71 0 2.65204 0.371438 1.86942 -0.675938 New Acceptor Site 25024042 8.38552 0.859109 83.535 rs74279113 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 244424 14980 33554 9806 17202 30770 110410 22260 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 100 Exomes 8534 4404 12938 2 0 2 0.000234302 0 0.00015456 0.000234302 0 0.00015456 27 transition G A G>A 0.008 1.013 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.1674 . . . . . . . . 1.580e-05 . . . 0 1.182e-05 0 0 0 2.621e-05 0 0 0 9.85e-06 0 0 0 1.937e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.24 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201572201 . . . . . . . . . . . . . . . . . . . . 0.9999 0.97 . 0.000155 . . . . II.61 0 8.183e-06 0 0 0 0 1.811e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . 0.0002 . . rs74279113 rs201572201 1 1538 10 1/0 0,255,255 +. 22 25046666 C T - BCRP3 1016 Breakpoint cluster region pseudogene 3 NR_024494.1 1 1425 0 substitution intron GRCh37 25046666 25046666 Chr22(GRCh37):g.25046666C>T 1070+677 1070+677 NR_024494.1:n.1070+677C>T p.? p.? 6 6 113640 677 5' 84.8076 9.98517 0.95104 8.00288 84.8076 9.98517 0.95104 8.00288 0 Cryptic Donor Strongly Activated 25046660 3.19543 0.229315 65.2751 7.38896 0.907141 71.0537 0.000363 0.002795 0.000079 0.000000 0.000000 0.000000 0.000386 0.000106 0.000211 0.002795 64 31 2 0 0 0 28 2 1 176542 11092 25168 8322 12660 23126 72572 18854 4748 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 31 2 0 0 0 28 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.504 1.255 191 PASS . . . . . . . . . . . . DKFZp434K191:uc021wni.1:exon1:c.G393A:p.G131G . . . 0.13953489 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . @ . . . . . . . DKFZp434K191 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0053 0.0024 0.0025 0 0 0.0006 0.0020 0.0011 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 25046666 C T - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution intron GRCh37 25046666 25046666 Chr22(GRCh37):g.25046666C>T 6205-338 6205-338 NR_024593.1:n.6205-338G>A p.? p.? 3 2 -338 3' 87.937 8.66205 0.99313 9.17176 87.937 8.66205 0.99313 9.17176 0 0.000363 0.002795 0.000079 0.000000 0.000000 0.000000 0.000386 0.000106 0.000211 0.002795 64 31 2 0 0 0 28 2 1 176542 11092 25168 8322 12660 23126 72572 18854 4748 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 31 2 0 0 0 28 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.504 1.255 191 PASS . . . . . . . . . . . . DKFZp434K191:uc021wni.1:exon1:c.G393A:p.G131G . . . 0.13953489 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . @ . . . . . . . DKFZp434K191 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0053 0.0024 0.0025 0 0 0.0006 0.0020 0.0011 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201591499 22 25053956 A G - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution exon GRCh37 25053956 25053956 Chr22(GRCh37):g.25053956A>G 1159 1159 NR_024593.1:n.1159T>C 1 -4939 5' 85.7103 9.84413 0.949895 3.09891 85.7103 9.84413 0.949895 3.09891 0 rs201591499 yes no Frequency 1 0.000000 0 0.008044 0.005634 0.003580 0.006623 0.014198 0.000000 0.010029 0.002862 0.011247 0.014198 247 48 3 2 23 0 150 10 11 30708 8520 838 302 1620 0 14956 3494 978 0.012146 0.020833 0.000000 0.000000 0.086957 0.000000 0.000000 0.000000 0.000000 3 1 0 0 2 0 0 0 0 241 46 3 2 19 0 150 10 11 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 54.0 . . . . . . . . . . -0.4667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.46 0.11 182 ENSG00000224124 POM121L10P POM121L10P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201591499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0056 0.0080 0.0036 0.0066 0.0142 0.0029 0.0100 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201591499 rs201591499 1 1538 10 1/0 0,255,255 +. 22 25054412 T A - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution exon GRCh37 25054412 25054412 Chr22(GRCh37):g.25054412T>A 703 703 NR_024593.1:n.703A>T 1 -5395 5' 85.7103 9.84413 0.949895 3.09891 85.7103 9.84413 0.949895 3.09891 0 0.000113 0.000134 0.000000 0.000000 0.000648 0.000000 0.000080 0.000000 0.000000 0.000648 3 1 0 0 1 0 1 0 0 26534 7464 738 202 1544 0 12534 3218 834 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transversion A T A>T 0.000 0.851 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Tca|T235S|POM121L10P|Non-coding_transcript|NON_CODING|NR_024593|NR_024593.ex.1) . . . . . . . -0.1645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.51 0.22 182 ENSG00000224124 POM121L10P POM121L10P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0.0006 0 7.978e-05 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs5742580 rs5742580 rs5742580 rs5742580 1 1538 10 1.I 0,0,0 +. 22 25054418 T C - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution exon GRCh37 25054418 25054418 Chr22(GRCh37):g.25054418T>C 697 697 NR_024593.1:n.697A>G 1 -5401 5' 85.7103 9.84413 0.949895 3.09891 85.7103 9.84413 0.949895 3.09891 0 0.000752 0.000671 0.004021 0.000000 0.005208 0.000000 0.000159 0.000000 0.002381 0.005208 20 5 3 0 8 0 2 0 2 26596 7456 746 206 1536 0 12580 3232 840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 5 3 0 8 0 2 0 2 0 0 0 0 0 0 0 0 0 RF 31 Genomes transition A G A>G 0.000 -1.489 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 40.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N233D|POM121L10P|Non-coding_transcript|NON_CODING|NR_024593|NR_024593.ex.1) . . . . . . . -0.5241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.5 0.17 182 ENSG00000224124 POM121L10P POM121L10P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0008 0.0040 0 0.0052 0 0.0002 0.0024 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . rs3984113 rs3984113 rs3984113 rs3984113 1 1538 10 1.I 0,0,0 +. 22 25054545 G C - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution exon GRCh37 25054545 25054545 Chr22(GRCh37):g.25054545G>C 570 570 NR_024593.1:n.570C>G 1 -5528 5' 85.7103 9.84413 0.949895 3.09891 85.7103 9.84413 0.949895 3.09891 0 0.006830 0.009051 0.004870 0.000000 0.000776 0.000000 0.005979 0.008576 0.008824 0.009051 148 53 3 0 1 0 62 23 6 21670 5856 616 178 1288 0 10370 2682 680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148 53 3 0 1 0 62 23 6 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion C G C>G 0.000 -0.682 237 PASS . . . . . . . . . . . . . . . . 0.2777778 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccG|P190|POM121L10P|Non-coding_transcript|NON_CODING|NR_024593|NR_024593.ex.1) . . . . . . . -0.4743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.42 0.16 182 ENSG00000224124 POM121L10P POM121L10P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0091 0.0068 0.0049 0 0.0008 0.0086 0.0060 0.0088 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . rs3876057 rs3876057 rs3876057 rs3876057 1 1538 10 1/0 0,255,255 +rs13054858 22 25424579 C A - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution missense exon GRCh37 25424579 25424579 Chr22(GRCh37):g.25424579C>A 613 613 NM_001145206.1:c.613C>A p.Pro205Thr p.Pro205Thr 1 -929 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.21971 0 rs13054858 yes no Frequency/HapMap/1000G 3 C 0.000000 0 COSM6468075 Lung 0.000419 2388 transversion C A C>A 0.000 -0.117 P Pro CCA 0.274 T Thr ACA 0.280 205 13 6 Chicken -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Tolerated 0.17 III.43 unknown 0.0 0.0 111 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.C613A:p.P205T KIAA1671:NM_001145206:exon1:c.C613A:p.P205T . . 1.0 . . @ 104 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.058 . . 104.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Aca|P205T|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . -1.5824 -1.579 -1.582 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.094 @ . . . 0.45 0.27 182 ENSG00000197077 KIAA1671 KIAA1671 . . . 1.000 0.747 . 731 0.0112503 64976 728 0.0121362 59986 Uncertain_significance . 0 . 0.100 . . . . D 0.561 0.035 . . 37 . 0.191 . . 0.402 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.067 . . 0.127 . . . . . . 0 0.025 . . . . . 0.162 . 0.067 . HOM 0.36 rs117847071 0.109 0.210 . . . . . . . . . . V.81 . . IV.71 -1.06 . 1.000000 Q9BY89 . . . . . 0.146 . . . . . . . . . . . . . . . . . . . . . . 0.573 . -0.818 -0.818000 . . 1.000000 . . 1.0E-111 0.000 0.063 . 0.016 0.000 . 0.154 . 0.040 -0.818 -0.403 0.11 rs13054858 rs13054858 rs13054858 rs117847071 1 1538 255 1.I 0,0,255 +rs17667531 22 25425282 A G - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution missense exon GRCh37 25425282 25425282 Chr22(GRCh37):g.25425282A>G 1316 1316 NM_001145206.1:c.1316A>G p.Lys439Arg p.Lys439Arg 1 -226 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.21971 0 Cryptic Donor Strongly Activated 25425282 0.004296 57.5101 2.98609 0.454983 69.6461 rs17667531 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.898 1.497 K Lys AAG 0.575 R Arg AGG 0.207 439 13 8 Chicken 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 0.11 III.43 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.A1316G:p.K439R KIAA1671:NM_001145206:exon1:c.A1316G:p.K439R . . 0.49811321 . . @ 132 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.509 . @ . . . . . 1 0.831 . . 265.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K439R|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . -0.1684 -0.232 -0.168 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.425 @ . . . 0.51 0.4 182 ENSG00000197077 KIAA1671 KIAA1671 . . . 0.999 0.397 . 1941 0.0298726 64976 1893 0.0315574 59986 Uncertain_significance . 0 . 0.072 . . . . T 0.380 0.017 . . 37 . 0.419 . . 0.231 . . . 0.456 0.243 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.609 . . 0.564 . . . . . . 0 0.574 . . . . . 0.320 . 0.171 . HET 0.03 rs17667531 0.217 0.254 . . . . . . . . . . VIII.84 . . IV.82 III.78 . 0.600000 Q9BY89 . . . . . 0.359 . . III.78 . . . . . . . . . . . . . . . . . . . 0.730 . 0.812 0.812000 . . 0.600000 . . 1.0E-255 0.983 0.354 . 0.117 0.015 . 0.465 . 0.248 0.812 0.079 0.22 rs17667531 rs17667531 rs17667531 rs116253946 1 1538 10 1/0 0,219,241 +rs11704667 22 25425340 T C - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25425340 25425340 Chr22(GRCh37):g.25425340T>C 1374 1374 NM_001145206.1:c.1374T>C p.Ser458= p.Ser458Ser 1 -168 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.21971 0 rs11704667 yes no Frequency/1000G 2 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 0.448 S Ser TCT 0.185 S Ser TCC 0.220 458 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.T1374C:p.S458S KIAA1671:NM_001145206:exon1:c.T1374C:p.S458S . . 0.4978903 . . @ 118 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 237.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S458|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . 0.1749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.36 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 14630 0.22516 64976 13138 0.219018 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11704667 0.478 0.457 . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.48 rs11704667 rs11704667 rs11704667 rs114925996 1 1538 10 1/0 0,226,251 +rs11704674 22 25425403 T C - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25425403 25425403 Chr22(GRCh37):g.25425403T>C 1437 1437 NM_001145206.1:c.1437T>C p.Val479= p.Val479Val 1 -105 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.21971 0 rs11704674 yes no Frequency/HapMap/1000G 3 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 0.609 V Val GTT 0.178 V Val GTC 0.240 479 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.T1437C:p.V479V KIAA1671:NM_001145206:exon1:c.T1437C:p.V479V . . 0.5120482 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 166.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V479|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . 0.8458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.35 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 6996 0.107671 64976 6044 0.100757 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11704674 0.326 0.333 . . . . . . . . . . . . . . . . . . . . . . . . . . II.68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs11704674 rs11704674 rs11704674 rs115525122 1 1538 10 1/0 0,243,255 +rs12330067 22 25425439 A C - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25425439 25425439 Chr22(GRCh37):g.25425439A>C 1473 1473 NM_001145206.1:c.1473A>C p.Ser491= p.Ser491Ser 1 -69 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.60755 0 rs12330067 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -3.184 S Ser TCA 0.148 S Ser TCC 0.220 491 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.A1473C:p.S491S KIAA1671:NM_001145206:exon1:c.A1473C:p.S491S . . 0.5578231 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 147.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcC|S491|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . -0.5014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.39 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 15053 0.23167 64976 13630 0.22722 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114054494 0.489 0.442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.49 rs12330067 rs12330067 rs12330067 rs114054494 1 1538 10 1/0 0,250,255 +rs2076119 22 25428768 A G - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution intron GRCh37 25428768 25428768 Chr22(GRCh37):g.25428768A>G 1629+105 1629+105 NM_001145206.1:c.1629+105A>G p.? p.? 2 2 105 5' 94.6745 X.23 0.998826 7.81598 94.6745 X.23 0.998826 7.81598 0 rs2076119 yes no Frequency/1000G 2 G 0.000000 0 transition A G A>G 0.000 -0.844 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||KIAA1671|mRNA|CODING|NM_001145206|) . . . . . . . -0.5634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.33 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs116806726 0.750 0.768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.75 rs2076119 rs2076119 rs2076119 rs116806726 1 1538 255 1.I 0,0,255 +rs73157984 22 25435028 G T - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution missense exon GRCh37 25435028 25435028 Chr22(GRCh37):g.25435028G>T 1931 1931 NM_001145206.1:c.1931G>T p.Arg644Leu p.Arg644Leu 3 302 3' 93.2974 X.85 0.98868 XI.28 93.2974 X.85 0.98868 XI.28 0 Cryptic Acceptor Strongly Activated 25435037 5.23069 0.416994 75.8178 5.82495 0.777037 81.2531 rs73157984 yes no Frequency/1000G 2 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 8 10 0 4 8 6 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G T G>T 0.000 -2.054 R Arg CGT 0.082 L Leu CTT 0.129 644 13 6 Dog -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 353.86 0.00 Tolerated 0.22 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon3:c.G1931T:p.R644L KIAA1671:NM_001145206:exon3:c.G1931T:p.R644L . . 0.5714286 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.071 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cTt|R644L|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.3) . . . . . . . -1.5342 -1.673 -1.534 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.019 @ . . . 0.46 0.36 182 ENSG00000197077 KIAA1671 KIAA1671 . . . 0.952 0.279 . 185 0.00284721 64976 183 0.00305071 59986 Uncertain_significance . 0 . 0.007 . . . . T 0.218 0.008 . . 37 . 0.195 . . 0.125 . . . 0.263 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.364 . . 0 0 0 0 0 0 . 0.273 . . 0.237 . . . . . . 0 0.195 . . . . . 0.186 . 0.109 . HET 0.55 rs73157984 0.033 0.029 . . . . . . . . . . 6.0005 . . 3.VII -6.13 . 0.170000 Q9BY89 . . . . . 0.102 . . . 0 0 0 . 0 . 0 . 0 . . . . . . . . . . 0.310 . -2.211 -2.211000 . . 0.170000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.026 . 0.061 -2.211 -0.464 0.033 . rs73157984 rs73157984 rs114021782 1 1538 10 1/0 0,255,255 +rs80228367 22 25435047 G A - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25435047 25435047 Chr22(GRCh37):g.25435047G>A 1950 1950 NM_001145206.1:c.1950G>A p.Pro650= p.Pro650Pro 3 321 3' 93.2974 X.85 0.98868 XI.28 93.2974 X.85 0.98868 XI.28 0 rs80228367 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 0 14 0 2 8 8 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.844 P Pro CCG 0.115 P Pro CCA 0.274 650 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon3:c.G1950A:p.P650P KIAA1671:NM_001145206:exon3:c.G1950A:p.P650P . . 0.55172414 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P650|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.3) . . . . . . . -0.0846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.35 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 30 0.000461709 64976 30 0.000500117 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80228367 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs80228367 rs201736069 1 1538 10 1/0 0,255,255 +rs1040421 22 25436904 T C - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25436904 25436904 Chr22(GRCh37):g.25436904T>C 3807 3807 NM_001145206.1:c.3807T>C p.Asn1269= p.Asn1269Asn 3 -589 5' 99.6933 X.84 0.998751 8.92549 99.6933 X.84 0.998751 8.92549 0 rs1040421 yes no Frequency/HapMap/1000G 3 C 0.000000 0 COSM5505056 Biliary tract 0.002717 368 transition T C T>C 0.000 -0.037 N Asn AAT 0.464 N Asn AAC 0.536 1269 111 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon3:c.T3807C:p.N1269N KIAA1671:NM_001145206:exon3:c.T3807C:p.N1269N . . 1.0 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N1269|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.3) . . . . . . . 0.0378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.26 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 1681 0.0258711 64976 1458 0.0243057 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1040421 0.750 0.768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.75 rs1040421 rs1040421 rs1040421 rs1040421 1 1538 255 1.I 0,0,255 +rs145051889 22 25715848 C T - IGLL3P 5872 Immunoglobulin lambda-like polypeptide 3, pseudogene NR_029395.1 1 676 0 substitution exon GRCh37 25715848 25715848 Chr22(GRCh37):g.25715848C>T 330 330 NR_029395.1:n.330C>T 3 115 3' 85.4981 XI.39 0.983929 13.8257 85.4981 XI.39 0.983929 13.8257 0 rs145051889 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.001500 0.000000 0.000000 0.002000 0.002900 0.001062 0.000417 0.003894 0.000788 0.000265 0.000845 0.000744 0.000427 0.000929 0.003894 294 10 134 8 5 26 94 11 6 276796 23960 34410 10152 18862 30758 126410 25784 6460 0.000022 0.000000 0.000058 0.000000 0.000000 0.000000 0.000016 0.000078 0.000000 3 0 1 0 0 0 1 1 0 288 10 132 8 5 26 92 9 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM6233748 Liver 0.000422 2371 transition C T C>T 0.000 -1.328 255 PASS 0.002 0.0018 0.01 . . 0.0015 0.0012 0.0029 . 0.002 . . . . . . 0.49456522 . . @ 91 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 184.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D110|IGLL3P|Non-coding_transcript|NON_CODING|NR_029395|NR_029395.ex.3) . . . . . . . -0.4448 . . . . . . . . 1.113e-03 . . . 0.0002 0.0013 0.0057 0 0.0003 0.0007 0 0.0011 0.0002 0.0012 0.0057 0 0.0005 0.0007 0 0.0011 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0012 . . . 0.21 0.21 182 ENSG00000206066 IGLL3P IGLL3P . . . . . . 18 0.000277025 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145051889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0011 0.0039 0.0008 0.0002 0.0004 0.0007 0.0007 0.0008 0.0003 0.0010 0.0036 0 0.0012 0.0003 0.0013 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145051889 rs145051889 1 1538 10 1/0 0,230,243 +rs121908712 22 29108079 C G - CHEK2 16627 Checkpoint kinase 2 NM_001005735.1 -1 1987 1761 NP_001005735.1 substitution intron GRCh37 29108079 29108079 Chr22(GRCh37):g.29108079C>G 813-74 813-74 NM_001005735.1:c.813-74G>C p.? p.? 7 6 604373 -74 3' 83.5672 X.05 0.981188 9.58044 83.5672 X.05 0.981188 9.33436 0 rs121908712 yes no Frequency/1000G 2 C not_provided 0.000000 0 0.001597 0.000800 0.003100 0.000000 0.002000 0.002900 0.001221 0.000250 0.001217 0.000000 0.000000 0.000000 0.002140 0.000318 0.001111 0.002140 35 2 1 0 0 0 30 1 1 28660 8006 822 286 1484 0 14018 3144 900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 2 1 0 0 0 30 1 1 0 0 0 0 0 0 0 0 0 PASS 46 Genomes RCV000114753.1 germline not provided Not provided 0 not provided transversion G C G>C 0.000 -0.440 255 PASS 0.002 0.0018 0.0028 . 0.0026 0.0008 0.0016 0.0029 . 0.002 0.0031 . . . . . 0.5714286 . . germline 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . not//\@provided not_provided RCV000114753.1 not_provided MedGen CN221809 2 . . . 35.0 . . . . . . . . . . 0.1206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.36 0.23 182 ENSG00000183765 CHEK2 CHEK2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs121908712 . . . CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000114753.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000114753.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000114753.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0012 0.0012 0 0 0.0003 0.0021 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs121908712 . 1 1538 10 1/0 0,255,255 +rs370585934 (chr22:29815342 C/G) 22 29815342 C G Not on a known gene +. 22 29885567 A AAAGTCCCCTGAGTAGGCC - NEFH 7737 Neurofilament, heavy polypeptide NM_021076.3 1 3721 3063 NP_066554.2 insertion stop gain exon GRCh37 29885579 29885580 Chr22(GRCh37):g.29885579_29885580insTAGGCCAAGTCCCCTGAG 1950 1951 NM_021076.3:c.1950_1951insTAGGCCAAGTCCCCTGAG p.Lys651* p.Lys651* 4 162230 742 3' 78.7896 8.86483 0.161505 III.93 78.7896 8.86483 0.161505 III.93 0 Protein of unknown function DUF1388 TAGGCCAAGTCCCCTGAG 255 Pass . . . . . . . . . . . ENSG00000100285:ENST00000310624:exon4:c.1938_1939insAAGTCCCCTGAGTAGGCC:p.A646delinsAKSPEX NEFH:uc003afo.3:exon4:c.1938_1939insAAGTCCCCTGAGTAGGCC:p.A646delinsAKSPEX NEFH:NM_021076:exon4:c.1938_1939insAAGTCCCCTGAGTAGGCC:p.A646delinsAKSPEX . . 0.2 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 130 . . STOP_GAINED(HIGH||-/AAGTCCCCTGAGTAGGCC|-647KSPE*A|NEFH|mRNA|CODING|NM_021076|NM_021076.ex.4) 0.1 0.096 0.093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . . . . . . . . ENSG00000100285 NEFH NEFH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv438344 0.095847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.1 . . . . 1 1538 10 1.I 0,8,70 +rs780193104 22 30202098 C A - ASCC2 24103 Activating signal cointegrator 1 complex subunit 2 NM_032204.4 -1 2823 2274 NP_115580.2 Q9H1I8 substitution intron GRCh37 30202098 30202098 Chr22(GRCh37):g.30202098C>A 1160+107 1160+107 NM_032204.4:c.1160+107G>T p.? p.? 12 12 614216 107 5' 50.2257 0 0.000181 0 50.2257 0 0.000181 0 0 rs780193104 no no 0 C 0.000000 0 0.000097 0.000115 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000133 3 1 0 0 0 0 2 0 0 30950 8730 838 302 1612 0 14996 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.4369748 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.1756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000100325 ASCC2 ASCC2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs780193104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 9.693e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs769743475 22 30412685 G A - HORMAD2-AS1 50729 HORMAD2 antisense RNA 1 NR_110541.1 -1 1152 0 substitution intron GRCh37 30412685 30412685 Chr22(GRCh37):g.30412685G>A 697+1921 697+1921 NR_110541.1:n.697+1921C>T p.? p.? 4 4 1921 5' 89.8263 9.80181 0.998019 7.13524 89.8263 9.80181 0.998019 7.13524 0 rs769743475 yes no Frequency 1 G 0.000000 0 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000156 0.000056 8 0 0 0 0 0 7 0 1 274660 24024 34230 9920 18840 30362 125332 25558 6394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 7 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 2.788 255 PASS . . . . . . . . . . . . . . . . 0.42 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.348 . @ . . . . . 1 0.168 . . 50.0 . . . . . . . . . . -0.3450 -0.038 -0.345 c . . . . . 1.579e-05 . . . 0 2.282e-05 0 0 0 4.836e-05 0 0 0 1.94e-05 0 0 0 3.733e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.899 . . exonic exonic exonic . . 0.645 @ . . . . . . ENSG00000100330 MTMR3 MTMR3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.396 . . . . T 0.453 0.022 . . 37 . 0.613 . . 0.621 . . . 0.005 0.380 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 1 0.045 . . . . . 0.070 . 0.137 . HET 0.86 rs769743475 . . . . . . . . . . . . 3.458 . . 6.I IV.94 . 0.660000 . 0.0030 0.056 . . . 0.475 . . IV.94 0 2.462e-05 0 0 0 0 4.532e-05 0.0002 0 0 6.455e-05 0 0 0 0 0.0001 0 . . 0.730 . 2.861 2.861000 . . 0.660000 . . 1.0E-255 1.000 0.715 . 0.888 0.994 . 0.512 . 0.713 2.861 0.069 . . . . . 1 1538 10 1/0 0,255,255 +rs769743475 22 30412685 G A - MTMR3 7451 Myotubularin related protein 3 NM_021090.3 1 8992 3597 NP_066576.1 Q13615 substitution missense exon GRCh37 30412685 30412685 Chr22(GRCh37):g.30412685G>A 1672 1672 NM_021090.3:c.1672G>A p.Ala558Thr p.Ala558Thr 15 603558 -3 5' 64.5464 6.35207 0.553743 4.67313 67.2944 6.72591 0.84774 6.10144 0.210785 Cryptic Donor Strongly Activated 30412687 6.35207 0.553743 64.5464 6.72591 0.84774 67.2944 rs769743475 yes no Frequency 1 G 0.000000 0 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000156 0.000056 8 0 0 0 0 0 7 0 1 274660 24024 34230 9920 18840 30362 125332 25558 6394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 7 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 2.788 A Ala GCC 0.403 T Thr ACC 0.361 558 11 5 Dog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 226.65 0.00 Tolerated 0.51 III.25 good 3.739E-1 0.1538 255 PASS . . . . . . . . . . . . . . . . 0.42 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.348 . @ . . . . . 1 0.168 . . 50.0 . . . . . . . . . . -0.3450 -0.038 -0.345 c . . . . . 1.579e-05 . . . 0 2.282e-05 0 0 0 4.836e-05 0 0 0 1.94e-05 0 0 0 3.733e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.899 . . exonic exonic exonic . . 0.645 @ . . . . . . ENSG00000100330 MTMR3 MTMR3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.396 . . . . T 0.453 0.022 . . 37 . 0.613 . . 0.621 . . . 0.005 0.380 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 1 0.045 . . . . . 0.070 . 0.137 . HET 0.86 rs769743475 . . . . . . . . . . . . 3.458 . . 6.I IV.94 . 0.660000 . 0.0030 0.056 . . . 0.475 . . IV.94 0 2.462e-05 0 0 0 0 4.532e-05 0.0002 0 0 6.455e-05 0 0 0 0 0.0001 0 . . 0.730 . 2.861 2.861000 . . 0.660000 . . 1.0E-255 1.000 0.715 . 0.888 0.994 . 0.512 . 0.713 2.861 0.069 . . . . . 1 1538 10 1/0 0,255,255 +rs374916412 22 30662733 C T - OSM 8506 Oncostatin M NM_020530.5 -1 1858 759 NP_065391.1 P13725 substitution intron GRCh37 30662733 30662733 Chr22(GRCh37):g.30662733C>T 34+22 34+22 NM_020530.5:c.34+22G>A p.? p.? 1 1 165095 22 5' 74.8217 9.13691 0.941136 10.682 74.8217 9.13691 0.941136 X.59 0 rs374916412 yes no Frequency 1 C 0.000000 0 0.000091 0.000209 0.000000 0.000000 0.000000 0.000033 0.000152 0.000000 0.000000 0.000209 25 5 0 0 0 1 19 0 0 274728 23886 34226 10080 18720 30718 125036 25656 6406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 5 0 0 0 1 19 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4405 13005 0 1 1 0 0.000226963 7.68876e-05 0 0.000226963 7.68876e-05 46 transition G A G>A 0.000 -2.861 255 PASS . . . . . . . . . . . . . . . . 0.39597315 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . INTRON(MODIFIER||||OSM|mRNA|CODING|NM_020530|) 0.0002 0.0001 . 0.0002 0.0001 . . 0.4942 . . . . . . . . 1.421e-04 . . . 0.0003 3.368e-05 0 0 0 0 0 0 0.0002 0.0002 0 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.48 182 ENSG00000099985 OSM OSM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374916412 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0.0003 9.844e-05 0 0 0 0 0.0002 0 3.255e-05 0 3.235e-05 0 0 0 0 6.68e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs374916412 rs374916412 1 1538 10 1/0 0,236,255 +. 22 30681797 T TCTGCCCCAGCCCTGGGTGCTCCCC - CASTOR1 34423 Cytosolic arginine sensor for mTORC1 subunit 1 NM_001037666.2 -1 1622 990 NP_001032755.1 Q8WTX7 insertion intron GRCh37 30681797 30681798 Chr22(GRCh37):g.30681797_30681798insCTGCCCCAGCCCTGGGTGCTCCCC 921+23 921+24 NM_001037666.2:c.921+23_921+24insGGGGAGCACCCAGGGCTGGGGCAG p.? p.? 8 8 617034 23 5' 81.348 8.04975 0.988275 9.618 81.348 8.04975 0.988275 XI.03 0 GGGGAGCACCCAGGGCTGGGGCAG 255 Pass . . . . . . . . . . . . . . . . 0.3862069 . . . 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 145 . . INTRON(MODIFIER||||GATSL3|mRNA|CODING|NM_001037666|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . GATSL3 GATSL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +. 22 31089959 A AA - OSBP2 8504 Oxysterol binding protein 2 NM_030758.3 1 4340 2751 NP_110385.1 Q969R2 duplication upstream GRCh37 31089971 31089972 Chr22(GRCh37):g.31089971dup -926 -926 NM_030758.3:c.-926dup p.? p.? 1 606729 -1569 5' 84.8076 9.98517 0.990794 7.58012 84.8076 9.98517 0.990794 7.58012 0 rs11383654 yes no Frequency/1000G 2 0.000000 0 0.867612 0.854000 0.843600 0.913700 0.859800 0.871800 0.963653 0.974193 0.904851 0.941406 0.999366 0.000000 0.968683 0.842444 0.949367 0.999366 23066 7361 485 241 1577 0 11754 1048 600 23936 7556 536 256 1578 0 12134 1244 632 0.481791 0.487162 0.447423 0.468880 0.499683 0.000000 0.484346 0.411260 0.475000 11113 3586 217 113 788 0 5693 431 285 581 132 32 13 1 0 259 126 18 0 0 0 0 0 0 0 0 0 PASS 40 Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.4814815 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000184792 OSBP2 OSBP2 . uc011ala.1:c.-89_-88insA NM_001282738:c.-89_-88insA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,32 +rs79952133 22 31583129 G A - RNF185 26783 Ring finger protein 185 NM_152267.3 1 3212 579 NP_689480.2 Q96GF1 substitution missense exon GRCh37 31583129 31583129 Chr22(GRCh37):g.31583129G>A 49 49 NM_152267.3:c.49G>A p.Ala17Thr p.Ala17Thr 2 97 3' 85.573 7.97019 0.962004 4.50581 85.573 7.97019 0.962004 4.50581 0 rs79952133 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001180 0.000751 0.000379 0.000000 0.000000 0.000033 0.002284 0.000194 0.000155 0.002284 326 18 13 0 0 1 288 5 1 276190 23974 34272 10098 18794 30758 126082 25776 6436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 326 18 13 0 0 1 288 5 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8572 4405 12977 28 1 29 0.00325581 0.000226963 0.00222974 0.00325581 0.000226963 0.00222974 72 transition G A G>A 1.000 1.093 A Ala GCA 0.226 T Thr ACA 0.280 17 11 6 Cat 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 215.25 0.00 Tolerated 1 III.58 good 8.442E-1 0.09216 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.53763443 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.340 . @ . . . . . 1 0.239 . . 93.0 . . . 0.0002 0.0022 0.0033 0.0002 0.0022 0.0033 . -0.3441 -0.096 -0.344 c . . . . . 9.629e-04 . . . 0.0006 0.0010 8.649e-05 0 0 0.0019 0 0 0.0007 0.0009 8.916e-05 0 0.0002 0.0015 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.950 . . exonic exonic exonic . . 0.395 0.0002 . . . 0.49 0.42 182 ENSG00000138942 RNF185 RNF185 . . . 0.276 0.189 . 110 0.00169293 64976 109 0.00181709 59986 Uncertain_significance . 0 . 0.368 . . . . T 0.400 0.018 . . 37 . 0.802 . . 0.726 . . . 0.112 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.057 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.051 . . . . . 0.141 . 0.047 . HET 0.34 rs79952133 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 5.1226 2.68E-4 . V.62 III.54 . 0.630000 . . . Name\x3dnsv459871 0.002230 . 0.424 . . III.54 0.0007 0.0011 0.0004 0 0 0.0002 0.0023 0.0002 3.251e-05 0.0009 0.0015 0 0 0 0 0.0025 0 . . 0.730 . 2.665 2.665000 . . 0.630000 . . 1.0E-255 0.974 0.344 . 0.544 0.989 . 0.338 . 0.713 2.665 0.069 0.0033 . . rs79952133 rs79952133 1 1538 10 1/0 0,255,255 +. 22 31971172 A ATAT - SFI1 29064 SFI1 centrin binding protein NM_001007467.2 1 4391 3729 NP_001007468.1 A8K8P3 insertion intron GRCh37 31971173 31971174 Chr22(GRCh37):g.31971173_31971174insATT 923-44 923-43 NM_001007467.2:c.923-44_923-43insATT p.? p.? 10 9 612765 -43 3' 92.0903 8.25162 0.933784 6.12331 92.0903 8.25162 0.933784 6.0641 0 Cryptic Acceptor Strongly Activated 31971184 5.506 0.265842 75.8309 V.77 0.629669 79.2022 ATT 255 Pass . . . . . . . . . . . . . . . . 0.8596491 . . . 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000198089 SFI1 SFI1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,7 +rs78557884 22 33265194 T C - SYN3 11496 Synapsin III NM_003490.3 -1 3042 1743 NP_003481.3 O14994 substitution intron GRCh37 33265194 33265194 Chr22(GRCh37):g.33265194T>C 462-82 462-82 NM_003490.3:c.462-82A>G p.? p.? 4 3 602705 -82 3' 80.5748 5.50831 0.393572 0 80.5748 5.50831 0.393572 0 0 Cryptic Acceptor Strongly Activated 33265183 4.11976 0.024936 76.1984 5.642 0.044414 76.1984 rs78557884 yes no Frequency/1000G 2 T 0.000000 0 0.012180 0.010600 0.016400 0.021800 0.005000 0.005800 0.007565 0.014571 0.002387 0.016556 0.029630 0.000000 0.002470 0.002862 0.005102 0.029630 234 127 2 5 48 0 37 10 5 30932 8716 838 302 1620 0 14982 3494 980 0.008547 0.007874 0.000000 0.000000 0.020833 0.000000 0.000000 0.000000 0.000000 2 1 0 0 1 0 0 0 0 230 125 2 5 46 0 37 10 5 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition A G A>G 0.000 -1.409 255 PASS 0.02 0.01 0.01 0.02 0.01 0.011 0.012 0.0058 0.022 0.005 0.016 . . . . . 0.5394737 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . -0.3250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0122 . . . 0.55 0.28 182 ENSG00000185666 SYN3 SYN3 . . . . . . 261 0.00401687 64976 200 0.00333411 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78557884 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv3599 . . . . . . . . . . . . . . . 0.0146 0.0076 0.0024 0.0166 0.0296 0.0029 0.0025 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs78557884 rs78557884 1 1538 10 1/0 0,255,255 +. 22 35812291 A C - MCM5 6948 Minichromosome maintenance complex component 5 NM_006739.3 1 2546 2205 NP_006730.2 P33992 substitution intron GRCh37 35812291 35812291 Chr22(GRCh37):g.35812291A>C 1348-41 1348-41 NM_006739.3:c.1348-41A>C p.? p.? 11 10 602696 -41 3' 75.7547 X.86 0.971743 XII.85 75.7547 X.86 0.971743 13.0561 0 Cryptic Acceptor Strongly Activated 35812298 7.18657 0.667735 79.1856 9.59876 0.881602 80.0498 35812291 -95.1711 transversion A C A>C 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.47826087 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . INTRON(MODIFIER||||MCM5|mRNA|CODING|NM_006739|) . . . . . . . -0.4594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000100297 MCM5 MCM5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs145559179 22 36537327 C T - APOL3 14868 Apolipoprotein L, 3 NM_145640.2 -1 2124 1209 NP_663615.1 O95236 substitution missense exon GRCh37 36537327 36537327 Chr22(GRCh37):g.36537327C>T 1130 1130 NM_145640.2:c.1130G>A p.Arg377Gln p.Arg377Gln 3 607253 780 3' 90.425 7.46294 0.779951 6.67357 90.425 7.46294 0.779951 6.67357 0 Apolipoprotein L rs145559179 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000800 0.001000 0.000000 0.002000 0.000000 0.001779 0.000624 0.000959 0.000985 0.000000 0.001332 0.002732 0.001629 0.000928 0.002732 493 15 33 10 0 41 346 42 6 277164 24022 34420 10152 18866 30782 126666 25790 6466 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 487 15 33 10 0 41 342 40 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8578 4404 12982 22 2 24 0.00255814 0.000453926 0.0018453 0.00255814 0.000453926 0.0018453 91 COSM4887540|COSM4887539 Upper aerodigestive tract|Upper aerodigestive tract 0.000804|0.000804 1244|1244 transition G A G>A 0.098 1.013 R Arg CGG 0.207 Q Gln CAG 0.744 377 12 2 Chimp 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 155.40 0.00 Tolerated 0.62 II.67 good 9.131E-1 0.2618 255 PASS . 0.0009 . . 0.0026 0.0008 0.0008 . . 0.002 0.001 . . . . . 0.53205127 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.126 . @ . . . . . 1 0.008 . . 156.0 . . . 0.0005 0.0018 0.0026 0.0005 0.0018 0.0026 . -1.5708 -1.469 -1.571 c . . . . . 1.721e-03 . . . 0.0006 0.0017 0.0011 0 0.0018 0.0025 0.0028 0.0015 0.0006 0.0016 0.0012 0 0.0018 0.0022 0.0014 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.252 0.0008 . . . 0.36 0.7 182 ENSG00000128284 APOL3 APOL3 . . . 0.999 0.399 . 104 0.00160059 64976 100 0.00166706 59986 Uncertain_significance . 0 . 0.109 . . . . T 0.045 0.002 . . 37 . 0.008 . . 0.439 . . . 0.006 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.222 . . 0.112 . . . . . . 0 0.024 . . . . . 0.176 . 0.218 . HET 0.78 rs145559179 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 V.88 5.35E-4 . IV.14 I.97 . 0.980000 . . . . 0.001845 . 0.003 . . . 0.0006 0.0017 0.0010 0.0010 0 0.0017 0.0024 0.0009 0.0013 0.0007 0.0027 0 0 0 0.0014 0.0049 0.0010 . . 0.522 . 0.258 0.258000 . . 0.980000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.175 . 0.194 0.258 0.057 0.0026 . . rs145559179 rs145559179 1 1538 10 1/0 0,238,246 +rs150685787 22 36661733 G A - APOL1 618 Apolipoprotein L, 1 NM_145343.2 1 3017 1245 NP_663318.1 substitution missense exon GRCh37 36661733 36661733 Chr22(GRCh37):g.36661733G>A 899 899 NM_145343.2:c.899G>A p.Arg300His p.Arg300His 7 603743 537 3' 92.9989 XI.69 0.977097 11.211 92.9989 XI.69 0.977097 11.211 0 Apolipoprotein L rs150685787 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000800 0.000000 0.000000 0.004000 0.000000 0.003741 0.000542 0.000412 0.000000 0.000531 0.000101 0.003011 0.022790 0.003957 0.022790 1017 13 14 0 10 3 374 578 25 271858 23982 33940 9556 18844 29632 124224 25362 6318 0.000044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000473 0.000000 6 0 0 0 0 0 0 6 0 1005 13 14 0 10 3 374 566 25 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4403 12983 20 3 23 0.00232558 0.00068089 0.00176841 0.00232558 0.00068089 0.00176841 105 transition G A G>A 0.000 -0.440 R Arg CGT 0.082 H His CAT 0.413 300 12 8 Armadillo 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 125.70 0.00 Deleterious 0.04 II.60 good 4.278E-1 0.1043 255 PASS . 0.0014 . . 0.004 0.0008 0.001 . . 0.004 . . . . . . 0.4827586 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.406 . @ . . . . . 1 0.798 . . 116.0 . . . 0.0007 0.0018 0.0023 0.0007 0.0018 0.0023 . -0.5585 -0.859 -0.559 c . . . . . 3.418e-03 . . . 0.0009 0.0023 0.0003 0.0005 0.0234 0.0023 0.0029 7.493e-05 0.0007 0.0033 0.0003 0.0006 0.0225 0.0032 0.0076 7.546e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.037 . . exonic exonic exonic . . 0.054 0.0010 . . . 0.4 0.28 182 ENSG00000100342 APOL1 APOL1 . . . 0.677 0.224 . 254 0.00390914 64976 249 0.00415097 59986 Likely_benign . 0 . 0.045 . . . . . . . . . 37 . 0.099 . . 0.380 . . . 0.434 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.584 . . 0 0 0 0 0 0 . 0.899 . . 0.708 . . . . . . 0 0.198 . . . . . 0.005 . 0.160 . HET 0.2 rs150685787 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 0.5033 8.03E-4 . 3.XII -2.84 . 0.320000 . . . . 0.001768 . 0.047 . . . 0.0005 0.0037 0.0004 0 0.0005 0.0232 0.0030 0.0032 0.0001 0.0006 0.0042 0.0012 0 0.0012 0.0200 0.0029 0.0082 . . 0.730 . -0.182 -0.182000 . . 0.320000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.069 . 0.047 -0.182 -0.540 0.004 . . rs150685787 rs150685787 1 1538 10 1/0 0,252,255 +rs767626076 22 37581470 C T - C1QTNF6 14343 C1q and tumor necrosis factor related protein 6 NM_031910.3 -1 2936 837 NP_114116.3 substitution missense exon GRCh37 37581470 37581470 Chr22(GRCh37):g.37581470C>T 77 77 NM_031910.3:c.77G>A p.Gly26Asp p.Gly26Asp 2 614910 26 3' 92.6575 XII.44 0.988364 XI.65 92.6575 XII.44 0.988364 XI.61 0 rs767626076 yes no Frequency 1 C 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000024 3 0 0 0 0 0 3 0 0 271396 23812 33384 9824 18582 30122 124130 25238 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.044 G Gly GGT 0.162 D Asp GAT 0.461 26 13 8 Cow -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 244.67 40.46 Tolerated 0.28 III.67 good 3.281E-1 0.3887 255 PASS . . . . . . . . . . . . . . . . 0.61333334 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.065 . . 75.0 . . . . . . . . . . -0.6900 -0.770 -0.690 c . . . . . 7.895e-06 . . . 0 1.139e-05 0 0 0 2.46e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.170 @ . . . . . . ENSG00000133466 C1QTNF6 C1QTNF6 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . 0.121 . . . . T 0.306 0.012 . . 37 . 0.262 . . 0.203 . . . 0.263 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.650 . . 0 0 0 0 0 0 . 0.320 . . 0.304 . . . . . . 0 0.247 . . . . . 0.047 . 0.304 . HET 0.04 rs767626076 . . . . . . . . . . . . II.04 . . IV.49 0.67 . 0.150000 . . . . . . 0.153 . . . 0 8.317e-06 0 0 0 0 1.832e-05 0 0 0 3.234e-05 0 0 0 0 6.678e-05 0 . . 0.730 . 0.880 0.880000 . . 0.150000 . . 1.0E-255 0.000 0.063 . 0.145 0.124 . 0.134 . 0.329 0.880 -0.064 . . . . . 1 1538 10 1/0 0,255,255 +rs62235034 22 37964429 T C - CDC42EP1 17014 CDC42 effector protein (Rho GTPase binding) 1 NM_152243.2 1 2164 1176 NP_689449.1 Q00587 substitution missense exon GRCh37 37964429 37964429 Chr22(GRCh37):g.37964429T>C 778 778 NM_152243.2:c.778T>C p.Ser260Pro p.Ser260Pro 3 606084 315 3' 88.6116 12.1371 0.991399 13.0201 88.6116 12.1371 0.991399 13.0201 0 rs62235034 yes no Frequency/1000G 2 T 0.000000 0 0.000428 0.000665 0.000428 0.000672 0.000062 0.000214 0.000524 0.000233 0.000364 0.000672 99 13 13 6 1 6 53 5 2 231314 19562 30356 8926 16230 28096 101184 21466 5494 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 99 13 13 6 1 6 53 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4156232|COSM4156232 Thyroid|Salivary gland 0.005355|0.012658 747|79 transition T C T>C 0.126 0.286 S Ser TCA 0.148 P Pro CCA 0.274 260 12 2 Chimp -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.45 III.86 good 9.929E-1 0.3777 111 PASS 0.16 0.37 0.51 0.27 0.52 . . . . . . ENSG00000128283:ENST00000249014:exon3:c.T778C:p.S260P CDC42EP1:uc003asz.4:exon3:c.T778C:p.S260P CDC42EP1:NM_152243:exon3:c.T778C:p.S260P . . 0.52380955 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.027 . . 21.0 . . . . . . . . . . -1.8112 -1.876 -1.811 c . . . . . 1.344e-04 . . . 0.0006 0.0003 0 0 0 0.0003 0 0.0003 0.0007 0.0002 0 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.039 @ . ENSG00000128283.6|ENSG00000100079.5|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5|ENSG00000128283.6|ENSG00000128283.6|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Thyroid|Whole_Blood|Whole_Blood 0.2 0.41 182 ENSG00000128283 CDC42EP1 CDC42EP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.057 0.003 . . 37 . 0.000 . . 0.443 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.016 . 0.036 . HET 0.73 rs62235034 0.022 0.029 . . . . . 0.3717948717948718 0.15853658536585366 0.505524861878453 0.270979020979021 0.5224274406332454 1.0989 0.083288 ENST00000249014 I.93 -3.86 . 0.910000 Q00587 . . . . . 0.045 . . . 0.0006 0.0004 0.0004 0.0006 6.669e-05 0.0003 0.0006 0.0004 0.0002 0.0007 0.0004 0.0013 0.0038 0 0 0.0002 0 . . 0.090 . -1.081 -1.081000 . . 0.910000 . . 1.0E-111 0.000 0.063 . 0.016 0.005 . 0.044 . 0.006 -1.081 -0.301 0.52 rs62235034 rs62235034 rs62235034 rs62235034 1 1538 10 1/0 90,2,0 +rs62235034 22 37964429 T C - LGALS2 6562 Lectin, galactoside-binding, soluble, 2 NM_006498.2 -1 528 399 NP_006489.1 P05162 substitution downstream GRCh37 37964429 37964429 Chr22(GRCh37):g.37964429T>C *1841 *1841 NM_006498.2:c.*1841A>G p.? p.? 4 150571 1991 3' 76.5042 X.02 0.980364 13.4978 76.5042 X.02 0.980364 13.4978 0 Cryptic Acceptor Strongly Activated 37964417 0.000852 1.33841 0.00068 69.8814 rs62235034 yes no Frequency/1000G 2 T 0.000000 0 0.000428 0.000665 0.000428 0.000672 0.000062 0.000214 0.000524 0.000233 0.000364 0.000672 99 13 13 6 1 6 53 5 2 231314 19562 30356 8926 16230 28096 101184 21466 5494 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 99 13 13 6 1 6 53 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4156232|COSM4156232 Thyroid|Salivary gland 0.005355|0.012658 747|79 transition A G A>G 0.126 0.286 111 PASS 0.16 0.37 0.51 0.27 0.52 . . . . . . ENSG00000128283:ENST00000249014:exon3:c.T778C:p.S260P CDC42EP1:uc003asz.4:exon3:c.T778C:p.S260P CDC42EP1:NM_152243:exon3:c.T778C:p.S260P . . 0.52380955 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.027 . . 21.0 . . . . . . . . . . -1.8112 -1.876 -1.811 c . . . . . 1.344e-04 . . . 0.0006 0.0003 0 0 0 0.0003 0 0.0003 0.0007 0.0002 0 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.039 @ . ENSG00000128283.6|ENSG00000100079.5|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5|ENSG00000128283.6|ENSG00000128283.6|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Thyroid|Whole_Blood|Whole_Blood 0.2 0.41 182 ENSG00000128283 CDC42EP1 CDC42EP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.057 0.003 . . 37 . 0.000 . . 0.443 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.016 . 0.036 . HET 0.73 rs62235034 0.022 0.029 . . . . . 0.3717948717948718 0.15853658536585366 0.505524861878453 0.270979020979021 0.5224274406332454 1.0989 0.083288 ENST00000249014 I.93 -3.86 . 0.910000 Q00587 . . . . . 0.045 . . . 0.0006 0.0004 0.0004 0.0006 6.669e-05 0.0003 0.0006 0.0004 0.0002 0.0007 0.0004 0.0013 0.0038 0 0 0.0002 0 . . 0.090 . -1.081 -1.081000 . . 0.910000 . . 1.0E-111 0.000 0.063 . 0.016 0.005 . 0.044 . 0.006 -1.081 -0.301 0.52 rs62235034 rs62235034 rs62235034 rs62235034 1 1538 10 1/0 90,2,0 +rs368646208 22 38229812 C T - ANKRD54 25185 Ankyrin repeat domain 54 NM_138797.3 -1 2200 903 NP_620152.1 Q6NXT1 substitution intron GRCh37 38229812 38229812 Chr22(GRCh37):g.38229812C>T 476-50 476-50 NM_138797.3:c.476-50G>A p.? p.? 4 3 613383 -50 3' 85.427 VI.48 0.854712 9.91935 85.427 VI.48 0.854712 9.69074 0 Cryptic Donor Strongly Activated 38229815 0.00583 58.4146 3.13833 0.200722 62.777 rs368646208 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000463 0.000042 0.000585 0.000997 0.000000 0.000165 0.000683 0.000000 0.000782 0.000997 126 1 20 10 0 5 85 0 5 272230 23692 34170 10030 18754 30348 124378 24466 6392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 126 1 20 10 0 5 85 0 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4406 12997 7 0 7 0.000814143 0 0.000538296 0.000814143 0 0.000538296 40 transition G A G>A 0.000 -0.279 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.54 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . -0.1001 . . . . . . . . 5.131e-04 . . . 0 0.0005 0.0006 0 0 0.0009 0.0028 0.0001 0 0.0005 0.0006 0 0 0.0007 0.0015 0.0001 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.27 0.05 182 ENSG00000100124 ANKRD54 ANKRD54 . . . . . . 17 0.000261635 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368646208 . . . . . . . . . . . . . . . . . . . . . . . 0.000538 . . . . . 6.68e-05 0.0005 0.0005 0.0010 0 0 0.0007 0.0007 0.0002 0 0.0004 0.0024 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs368646208 rs368646208 1 1538 10 1/0 0,255,255 +. 22 38313566 TG T - MICALL1 29804 MICAL-like 1 NM_033386.3 1 4495 2592 NP_203744.1 Q8N3F8 deletion intron GRCh37 38313566 38313566 Chr22(GRCh37):g.38313566del 338-148 338-148 NM_033386.3:c.338-148del p.? p.? 4 3 -148 3' 83.7776 X.02 0.936701 X.28 83.7776 X.02 0.936701 X.28 0 Cryptic Acceptor Strongly Activated 38313572 II.56 0.000112 56.6966 2.81195 0.000318 60.8203 G 255 Pass . . . . . . . . . . . . . . . . 0.29787233 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . INTRON(MODIFIER||||MICALL1|mRNA|CODING|NM_033386|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000100139 MICALL1 MICALL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv915035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,53 +rs76230437 22 38478804 A G - SLC16A8 16270 Solute carrier family 16, member 8 (monocarboxylic acid transporter 3) NM_013356.2 -1 1896 1515 NP_037488.2 O95907 substitution missense exon GRCh37 38478804 38478804 Chr22(GRCh37):g.38478804A>G 77 77 NM_013356.2:c.77T>C p.Phe26Ser p.Phe26Ser 2 610409 85 3' 75.4837 XI.41 0.85806 X.48 75.4837 XI.41 0.85806 X.48 0 Major facilitator superfamily Monocarboxylate transporter Major facilitator superfamily domain rs76230437 yes no Frequency/1000G 2 A 0.000000 0 0.005192 0.000000 0.025600 0.000000 0.001000 0.000000 0.002741 0.000100 0.001171 0.002509 0.000060 0.014248 0.001528 0.000217 0.001611 0.014248 635 2 36 23 1 403 157 4 9 231688 20048 30754 9166 16714 28284 102734 18402 5586 0.000052 0.000000 0.000065 0.000000 0.000000 0.000354 0.000000 0.000000 0.000000 6 0 1 0 0 5 0 0 0 623 2 34 23 1 393 157 4 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8010 4034 12044 10 0 10 0.00124688 0 0.0008296 0.00124688 0 0.0008296 8 transition T C T>C 1.000 4.564 F Phe TTT 0.454 S Ser TCT 0.185 26 17 16 Baker's yeast -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C55 21.82 141.80 Deleterious 0 II.57 255 PASS . 0.0009 . . 0.0026 . 0.0052 . . 0.001 0.026 . SLC16A8:uc003auu.3:exon2:c.T77C:p.F26S SLC16A8:NM_013356:exon2:c.T77C:p.F26S . . 0.5208333 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.899 . @ . . . . . 1 0.926 . . 48.0 . . . . 0.0008 0.0012 . 0.0008 0.0012 . 0.8008 0.705 0.801 c . . . . . 2.807e-03 . . . 0 0.0073 0.0020 0.0003 0 0.0037 0.0036 0.0189 0 0.0062 0.0025 0.0003 0.0009 0.0026 0.0035 0.0189 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.532 0.0052 . . . 0.55 0.52 182 ENSG00000100156 SLC16A8 SLC16A8 . . . 1.000 0.747 . 72 0.0011081 64976 48 0.000800187 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.691 . . 0.774 . . . 0.937 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.958 . . 0 0 0 0 0 0 . 0.899 . . 0.818 . . . . . . 1 0.912 . . . . . 0.639 . 0.930 . HET 0 rs76230437 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 14.0178 0.0 . IV.45 IV.45 . 0.000000 O95907 . . . 0.000830 . 0.606 . . IV.45 0.0002 0.0030 0.0011 0.0025 6.626e-05 6.705e-05 0.0016 0.0009 0.0142 0 0.0008 0.0024 0.0033 0 0.0009 0.0009 0.0051 . . 0.340 . 1.788 1.788000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.779 . 0.909 1.788 1.062 0.0026 . . rs76230437 rs76230437 1 1538 10 1/0 0,255,255 +rs57732048 22 40043877 C A - CACNA1I 1396 Calcium channel, voltage-dependent, T type, alpha 1I subunit NM_021096.3 1 10002 6672 NP_066919.2 Q9P0X4 substitution missense exon GRCh37 40043877 40043877 Chr22(GRCh37):g.40043877C>A 1513 1513 NM_021096.3:c.1513C>A p.His505Asn p.His505Asn 9 608230 51 3' 86.0667 9.54358 0.847257 3.66757 86.0667 9.54358 0.847257 3.61458 0 rs57732048 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.007000 0.007200 0.004177 0.001041 0.004445 0.005619 0.000000 0.000000 0.006811 0.001360 0.004812 0.006811 1147 25 153 57 0 0 846 35 31 274604 24006 34420 10144 18866 30782 124212 25732 6442 0.000051 0.000000 0.000058 0.000000 0.000000 0.000000 0.000081 0.000000 0.000310 7 0 1 0 0 0 5 0 1 1133 25 151 57 0 0 836 35 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8169 3841 12010 55 9 64 0.00668774 0.00233766 0.00530065 0.00668774 0.00233766 0.00530065 66 transversion C A C>A 0.000 -0.844 H His CAT 0.413 N Asn AAT 0.464 505 12 3 Orangutan 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 353.86 0.00 Tolerated 0.33 IV.32 good 9.083E-1 0.5461 255 PASS . 0.0037 0.01 . 0.01 . 0.0024 0.0072 . 0.007 . . . CACNA1I:NM_021096:exon9:c.C1513A:p.H505N . . 0.65625 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.015 . . 64.0 . . . 0.0023 0.0053 0.0067 0.0023 0.0053 0.0067 . -1.8334 -1.858 -1.833 c . . . . . 4.074e-03 . . . 0.0013 0.0045 0.0036 0 0.0011 0.0082 0.0014 6.06e-05 0.0014 0.0040 0.0035 0 0.0017 0.0066 0.0029 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.965 . . exonic exonic exonic . . 0.039 0.0024 . . . 0.13 0.35 182 ENSG00000100346 CACNA1I CACNA1I . . . 0.868 0.253 . 465 0.00715649 64976 453 0.00755176 59986 Likely_benign . 0 . 0.002 . . . . D 0.500 0.027 . . 37 . 0.797 . . 0.810 . . . 0.145 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.047 . . 0 0 0 0 0 0 . 0.119 . . 0.112 . . . . . . 1 0.106 . . . . . 0.074 . 0.092 . HET 0.2 rs57732048 . . . . . . . 0.003663003663003663 0.0 0.0055248618784530384 0.0 0.0079155672823219 III.56 0.0019 . II.66 -3.87 . 0.510000 . . . . 0.005301 . 0.006 . . . 0.0011 0.0043 0.0043 0.0058 0 0.0014 0.0070 0.0053 0 0.0009 0.0032 0.0084 0 0 0.0011 0.0053 0.0020 . . 0.185 . -0.809 -0.809000 . . 0.510000 . . 1.0E-255 0.000 0.063 . 0.016 0.015 . 0.058 . 0.008 -0.809 0.545 0.01 rs57732048 rs57732048 rs57732048 rs57732048 1 1538 10 1/0 0,255,255 +rs560421633 22 42306100 G C - SHISA8 18351 Shisa family member 8 NM_001353438.1 -1 2136 1479 NP_001340367.1 B8ZZ34 substitution missense exon GRCh37 42306100 42306100 Chr22(GRCh37):g.42306100G>C 1148 1148 NM_001353438.1:c.1148C>G p.Pro383Arg p.Pro383Arg 4 617329 52 3' 79.5014 13.1096 0.882264 14.9169 79.5014 13.1096 0.882264 14.5301 0 rs560421633 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.003101 0.001041 0.007463 0.003311 0.000000 0.000000 0.004886 0.000895 0.003086 0.007463 95 9 6 1 0 0 73 3 3 30638 8646 804 302 1620 0 14942 3352 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 95 9 6 1 0 0 73 3 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.992 1.739 P Pro CCG 0.115 R Arg CGG 0.207 383 12 6 Armadillo -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Tolerated 0.22 III.58 255 PASS . . . . . . 0.0012 0.0029 . 0.004 . . SHISA8:uc021wqh.1:exon4:c.C863G:p.P288R SHISA8:NM_001207020:exon4:c.C863G:p.P288R . . 0.3809524 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.153 . @ . . . . . 1 0.039 . . 21.0 . . . . . . . . . . I.63 2.876 1.256 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . intergenic exonic exonic . . 0.324 0.0012 . . . . . . . SHISA8 SHISA8 dist\x3d2788\x3bdist\x3d1197 . . 1.000 0.747 . 158 0.00243167 64976 152 0.00253392 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.291 . 0.258 . HET . rs560421633 . . . . . . . . . . . . . . . . . . . . . . . . . 0.314 . . II.87 . 0 . . . . 0 . . 0.0010 0.0031 0.0075 0.0033 0 0.0009 0.0049 0.0031 . . 0.042 . . . . . . . . 1.0E-255 0.001 0.137 . 0.104 0.020 . 0.149 . 0.175 . -0.065 . . . . . 1 1538 10 1/0 0,255,255 +rs149790551 22 42899170 A C - SERHL 14408 Serine hydrolase-like NR_027786.1 1 1357 0 substitution intron GRCh37 42899170 42899170 Chr22(GRCh37):g.42899170A>C 441-35 441-35 NR_027786.1:n.441-35A>C p.? p.? 6 5 607979 -35 3' 75.4047 7.16409 0.739918 8.99566 75.4047 7.16409 0.739918 9.43372 0 42899170 -78.984 rs149790551 yes no Frequency/1000G 2 A 0.000000 0 0.172724 0.246600 0.040900 0.467300 0.016900 0.015900 0.000009 0.000000 0.000031 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000031 2 0 1 0 0 0 1 0 0 224768 8796 32704 9244 3452 25782 115738 23388 5664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.037 255 PASS 0.23 0.17 0.04 0.37 0.04 0.25 0.17 0.016 0.47 0.017 0.041 . . . . . 0.875 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||SERHL|Non-coding_transcript|NON_CODING|NR_027786|) . . . . . . . -0.2243 . . . . . . . . 2.733e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.1727 . . . 0.24 0.13 182 ENSG00000172250 SERHL SERHL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs149790551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.861e-06 3.126e-05 0 0 0 0 0 0 0 5.253e-05 0 0 0 0 8.319e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.37 rs3788588 rs3788588 rs3788588 rs149790551 1 1538 10 1/0 0,255,255 +rs3788589 22 42899171 T C - SERHL 14408 Serine hydrolase-like NR_027786.1 1 1357 0 substitution intron GRCh37 42899171 42899171 Chr22(GRCh37):g.42899171T>C 441-34 441-34 NR_027786.1:n.441-34T>C p.? p.? 6 5 607979 -34 3' 75.4047 7.16409 0.739918 8.99566 75.4047 7.16409 0.739918 8.77098 0 rs3788589 yes no Frequency/1000G 2 T 0.000000 0 0.173123 0.248100 0.040900 0.467300 0.016900 0.015900 0.000022 0.000114 0.000031 0.000000 0.000000 0.000000 0.000026 0.000000 0.000000 0.000114 5 1 1 0 0 0 3 0 0 224254 8766 32528 9234 3420 25694 115616 23352 5644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.682 255 PASS . . . . . 0.25 0.17 0.016 0.47 0.017 0.041 . . . . . 0.875 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||SERHL|Non-coding_transcript|NON_CODING|NR_027786|) . . . . . . . -0.2181 . . . . . . . . 3.552e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.1731 . . . 0.25 0.16 182 ENSG00000172250 SERHL SERHL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs3788589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.744e-06 3.143e-05 0 0 0 9.653e-06 0 0 0.0004 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3788589 rs3788589 rs3788589 rs145749508 1 1538 10 1/0 0,255,255 +. 22 42951976 GT G - SERHL2 29446 Serine hydrolase-like 2 NM_014509.4 1 1431 945 NP_055324.2 Q9H4I8 deletion intron GRCh37 42951977 42951977 Chr22(GRCh37):g.42951977del 329-93 329-93 NM_014509.4:c.329-93del p.? p.? 5 4 -93 3' 92.0126 X.02 0.987205 10.667 92.0126 X.02 0.987205 10.667 0 T 255 Pass . . . . . . . . . . . . . . . . 0.13084112 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intronic . . . . . . . . . . ENSG00000182841 RRP7B SERHL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,88 +rs543882404 22 42951979 C G - SERHL2 29446 Serine hydrolase-like 2 NM_014509.4 1 1431 945 NP_055324.2 Q9H4I8 substitution intron GRCh37 42951979 42951979 Chr22(GRCh37):g.42951979C>G 329-91 329-91 NM_014509.4:c.329-91C>G p.? p.? 5 4 -91 3' 92.0126 X.02 0.987205 10.667 92.0126 X.02 0.987205 10.667 0 transversion C G C>G 0.000 -0.117 218 PASS . . . . . . . . . . . . . . . . 0.10218978 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 137.0 . . . . . . . . . . 0.5075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intronic . . . 0.3347 . . . . . . ENSG00000182841 RRP7B SERHL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs758811236 22 45574342 A G - NUP50 8065 Nucleoporin 50kDa NM_007172.3 1 5225 1407 NP_009103.2 Q9UKX7 substitution synonymous exon GRCh37 45574342 45574342 Chr22(GRCh37):g.45574342A>G 564 564 NM_007172.3:c.564A>G p.Lys188= p.Lys188Lys 5 604646 224 3' 86.2063 7.58047 0.980148 0 86.2063 7.58047 0.980148 0 0 New Acceptor Site 45574343 6.03778 0.012664 77.2141 Nuclear pore complex, NUP2/50/61 rs758811236 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245368 15164 33578 9824 17242 30774 111020 22296 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 64 Exomes COSM5427697|COSM5427697 Liver|Haematopoietic and lymphoid tissue 0.000844|0.000283 2371|3530 transition A G A>G 0.992 0.044 K Lys AAA 0.425 K Lys AAG 0.575 188 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . I.58 . . . . . . . . 2.368e-05 . . . 0 2.244e-05 0 0 0 0 0 0.0001 0 2.869e-05 0 0 0 1.872e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.64 0.57 182 ENSG00000093000 NUP50 NUP50 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs758811236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs13209197 rs13209197 rs13209197 rs13209197 1 1538 10 1/0 0,236,255 +rs199713755 22 45574426 A G - NUP50 8065 Nucleoporin 50kDa NM_007172.3 1 5225 1407 NP_009103.2 Q9UKX7 substitution synonymous exon GRCh37 45574426 45574426 Chr22(GRCh37):g.45574426A>G 648 648 NM_007172.3:c.648A>G p.Ala216= p.Ala216Ala 5 604646 308 3' 86.2063 7.58047 0.980148 0 86.2063 7.58047 0.980148 0 0 Nuclear pore complex, NUP2/50/61 rs199713755 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000008 1 0 0 0 0 0 1 0 0 274740 23470 34310 10126 18726 30750 125228 25726 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4300432|COSM4300432 Liver|Haematopoietic and lymphoid tissue 0.000422|0.000567 2371|3530 transition A G A>G 0.000 -1.086 A Ala GCA 0.226 A Ala GCG 0.107 216 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . 0.0005 . . . . . . . . 1.184e-04 . . . 0 5.571e-05 0 0.0002 0 9.612e-05 0 0 0 9.519e-06 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.44 182 ENSG00000093000 NUP50 NUP50 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199713755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.079e-06 0 0 0 0 9.019e-06 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs199713755 rs199713755 1 1538 10 1/0 0,236,255 +rs796770204 22 45577411 A T - NUP50 8065 Nucleoporin 50kDa NM_007172.3 1 5225 1407 NP_009103.2 Q9UKX7 substitution intron GRCh37 45577411 45577411 Chr22(GRCh37):g.45577411A>T 1085+163 1085+163 NM_007172.3:c.1085+163A>T p.? p.? 6 6 604646 163 5' 82.2284 6.91262 0.98339 1.27092 82.2284 6.91262 0.98339 1.27092 0 Cryptic Acceptor Strongly Activated 45577420 1.61945 0.005507 70.9178 II.88 0.061789 76.6262 rs796770204 no no 0 A 0.000000 0 transversion A T A>T 0.000 -0.360 236 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.0697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000093000 NUP50 NUP50 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs112368657 22 45724286 C G - FAM118A 1313 Family with sequence similarity 118 member A NM_001349916.1 1 3345 1116 NP_001336845.1 substitution intron GRCh37 45724286 45724286 Chr22(GRCh37):g.45724286C>G 564+342 564+342 NM_001349916.1:c.564+342C>G p.? p.? 6 6 342 5' 84.5009 IX.03 0.990952 9.68132 84.5009 IX.03 0.990952 9.68132 0 New Donor Site 45724285 II.29 0.062228 67.8181 rs112368657 yes no Frequency 1 0.000000 0 0.000227 0.000000 0.000264 0.000000 0.000269 0.000163 0.000297 0.000245 0.000000 0.000297 60 0 9 0 5 5 35 6 0 264718 22784 34054 9918 18594 30700 118020 24490 6158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 0 9 0 5 5 35 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.198 241 PASS . . . . . . . . . . . ENSG00000100376:ENST00000405673:exon5:c.C536G:p.A179G . . . . 0.2753623 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.100 . @ . . . . . 2 0.254 . . 207.0 . . . . . . . . . . -0.9516 -1.199 -0.952 c . . . . . 5.251e-04 . . . 0.0002 0.0006 8.845e-05 0.0013 0 0.0010 0 0.0003 0.0001 0.0006 9.086e-05 0.0010 0 0.0009 0.0015 0.0003 nonsynonymous_SNV . . 0.522 . . exonic intronic intronic . . 0.099 @ . . . 0.2 0.09 182 ENSG00000100376 FAM118A FAM118A . . . 0.794 0.240 . . . . . . . . . 0 . . . . . . T 0.041 0.002 . . 37 . 0.301 . . 0.270 . . . . 0.090 . . . . . . . . . . . . . . . 0.129 . . . . . . 0 . . . . . . . . . . . . 0 0.218 . . . . . . . 0.084 . HET 0.19 rs112368657 . . . . . . . . . . . . . 0.0 ENST00000405673 0.455 -0.91 . 0.410000 . . . . . . 0.022 . . . 0 0.0002 0.0002 0 0.0003 0 0.0003 0 0.0002 0 0.0005 0.0045 0 0 0.0025 0.0003 0 . . 0.730 . -0.210 -0.210000 . . 0.410000 . . 1.0E-241 0.000 0.063 . 0.074 0.054 . 0.099 . 0.248 -0.210 0.135 . . . rs112368657 rs112368657 1 1538 10 1/0 0,212,255 +. 22 46449749 G A - PRR34 25606 Proline rich 34 NM_018280.2 -1 1836 417 NP_060750.1 Q9NV39 substitution synonymous exon GRCh37 46449749 46449749 Chr22(GRCh37):g.46449749G>A 225 225 NM_018280.2:c.225C>T p.Pro75= p.Pro75Pro 1 -120 5' 76.1965 4.51291 0.326284 8.84937 76.1965 4.51291 0.326284 8.84937 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 79218 2608 9976 4882 3860 13964 37058 4958 1912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 37 Exomes transition C T C>T 0.992 0.286 P Pro CCC 0.328 P Pro CCT 0.283 75 255 PASS . . . . . . . . . . . . C22orf26:uc003bgq.1:exon1:c.C225T:p.P75P PRR34:NM_018280:exon1:c.C225T:p.P75P . . 0.6333333 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . I.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000182257 C22orf26 PRR34 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 46449749 G A - PRR34-AS1 50499 PRR34 antisense RNA 1 NR_027034.1 1 1635 0 substitution exon GRCh37 46449749 46449749 Chr22(GRCh37):g.46449749G>A 24 24 NR_027034.1:n.24G>A 1 -52 5' 90.3122 9.15773 0.986589 XII.93 90.3122 9.15773 0.986589 XI.04 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 79218 2608 9976 4882 3860 13964 37058 4958 1912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 37 Exomes transition G A G>A 0.992 0.286 255 PASS . . . . . . . . . . . . C22orf26:uc003bgq.1:exon1:c.C225T:p.P75P PRR34:NM_018280:exon1:c.C225T:p.P75P . . 0.6333333 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . I.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000182257 C22orf26 PRR34 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs150812606 22 46656275 G C - PKDREJ 9015 Polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) NM_006071.1 -1 7660 6762 NP_006062.1 Q9NTG1 substitution missense exon GRCh37 46656275 46656275 Chr22(GRCh37):g.46656275G>C 2945 2945 NM_006071.1:c.2945C>G p.Thr982Arg p.Thr982Arg 1 604670 rs150812606 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000242 0.000042 0.000145 0.000000 0.000000 0.000000 0.000418 0.000310 0.000000 0.000418 67 1 5 0 0 0 53 8 0 277236 24030 34420 10152 18870 30782 126720 25794 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 1 5 0 0 0 53 8 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 144 transversion C G C>G 0.000 0.448 T Thr ACA 0.280 R Arg AGA 0.205 982 13 10 Chicken -1 -1 -2 0.71 0.65 8.VI 10.V 61 124 71 C0 353.86 0.00 Deleterious 0.01 III.19 bad 8.931E-6 6.485E-5 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . ENSG00000130943:ENST00000253255:exon1:c.C2945G:p.T982R PKDREJ:uc003bhh.3:exon1:c.C2945G:p.T982R PKDREJ:NM_006071:exon1:c.C2945G:p.T982R . . 0.4864865 . . @ 54 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.214 . @ . . . . . 1 0.395 . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T982R|PKDREJ|mRNA|CODING|NM_006071|NM_006071.ex.1) . 0.0003 0.0005 . 0.0003 0.0005 . -0.5035 -0.622 -0.504 c . . . . . 1.894e-04 . . . 9.626e-05 0.0002 8.646e-05 0 0.0008 0.0004 0 0 0.0001 0.0002 8.916e-05 0 0.0005 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.341 0.0002 . . . 0.27 0.33 182 ENSG00000130943 PKDREJ PKDREJ . . . 0.999 0.399 . 13 0.000200074 64976 12 0.000200047 59986 Uncertain_significance . 0 . 0.364 . . . . T 0.330 0.013 . . 37 . 0.338 . . 0.342 . . . 0.702 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.655 . . 0 0 0 0 0 0 . 0.433 . . 0.350 . . . . . . 0 0.632 . . . . . 0.233 . 0.338 . HET 0 rs150812606 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 VI.27 0.0 ENST00000253255 V.18 3.V . 0.010000 Q9NTG1 . . . 0.000308 . 0.139 . . 3.V 6.534e-05 0.0002 0.0001 0 0 0.0003 0.0004 0 0 0 0.0004 0.0012 0 0 0.0006 0.0005 0 . . 0.083 . 0.679 0.679000 . . 0.010000 . . 1.0E-255 0.007 0.175 . 0.043 0.015 . 0.328 . 0.084 0.679 0.917 0.0013 . . rs150812606 rs150812606 1 1538 10 1/0 0,254,255 +rs35883013 22 46681141 G A - TTC38 26082 Tetratricopeptide repeat domain 38 NM_017931.2 1 2610 1410 NP_060401.2 Q5R3I4 substitution missense exon GRCh37 46681141 46681141 Chr22(GRCh37):g.46681141G>A 799 799 NM_017931.2:c.799G>A p.Glu267Lys p.Glu267Lys 9 4 3' 97.2489 3.73051 0.937524 1.81078 97.2489 3.73051 0.918247 1.43176 -0.00685387 rs35883013 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000800 0.001000 0.000000 0.005000 0.011500 0.006865 0.001499 0.003951 0.016552 0.000053 0.000845 0.010062 0.008222 0.007583 0.016552 1903 36 136 168 1 26 1275 212 49 277192 24018 34418 10150 18866 30782 126710 25786 6462 0.000065 0.000000 0.000000 0.000394 0.000000 0.000000 0.000079 0.000155 0.000000 9 0 0 2 0 0 5 2 0 1885 36 136 164 1 26 1265 208 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8189 3883 12072 87 9 96 0.0105123 0.00231244 0.00788955 0.0105123 0.00231244 0.00788955 120 COSM6468229 Lung 0.000419 2389 transition G A G>A 0.882 2.627 E Glu GAA 0.417 K Lys AAA 0.425 267 12 8 C. elegans 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 61.28 51.63 Deleterious 0.04 III.41 good 1.925E-1 0.008981 255 PASS . 0.0032 0.01 . 0.004 0.0008 0.003 0.011 . 0.005 0.001 . . TTC38:NM_017931:exon9:c.G799A:p.E267K . . 0.45454547 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.580 . @ . . . . . 1 0.872 . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E267K|TTC38|mRNA|CODING|NM_017931|NM_017931.ex.9) 0.0023 0.0079 0.011 0.0023 0.0079 0.011 . -0.0422 -0.006 -0.042 c . . . . . 6.420e-03 . . . 0.0019 0.0065 0.0033 0 0.0074 0.0113 0.0071 0.0010 0.0018 0.0057 0.0033 0 0.0064 0.0091 0.0058 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . 0.669 0.0030 . . . 0.58 0.25 182 ENSG00000075234 TTC38 TTC38 . . . 0.991 0.322 . 421 0.00647932 64976 406 0.00676825 59986 Uncertain_significance . 0 . 0.305 . . . . . . . . . 37 . 0.636 . . 0.710 . . . 0.622 0.383 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.553 . . 0 0 0 0 0 0 . 0.339 . . 0.297 . . . . . . 0 0.555 . . . . . 0.882 . 0.199 . HET 0.02 rs35883013 . 0.014 . . . . . 0.003205128205128205 0.0 0.011049723756906077 0.0 0.00395778364116095 17.7081 0.002812 . 5.III 5.III . 0.150000 . . . . 0.007890 . 0.671 . . 5.III 0.0018 0.0067 0.0037 0.0166 5.798e-05 0.0085 0.0097 0.0073 0.0008 0.0009 0.0081 0.0155 0.0166 0 0.0063 0.0129 0.0092 . . 0.730 . 2.491 2.491000 . . 0.150000 . . 1.0E-255 1.000 0.715 . 0.160 0.902 . 0.668 . 0.613 2.491 0.917 0.011 rs35883013 rs35883013 rs35883013 rs35883013 1 1538 10 1/0 0,255,255 +. (chr22:49661449 G/C) 22 49661449 G C Not on a known gene +rs796301968 (chr22:49661692 A/G) 22 49661692 A G Not on a known gene +rs866533116 (chr22:49661777 C/T) 22 49661777 C T Not on a known gene +. (chr22:49661779 G/C) 22 49661779 G C Not on a known gene +rs867939078 (chr22:49661878 G/C) 22 49661878 G C Not on a known gene +. (chr22:49661889 G/C) 22 49661889 G C Not on a known gene +. (chr22:49661989 A/G) 22 49661989 A G Not on a known gene +. (chr22:49662020 G/A) 22 49662020 G A Not on a known gene +rs867172050 (chr22:49662022 G/A) 22 49662022 G A Not on a known gene +rs866322099 (chr22:49662054 C/T) 22 49662054 C T Not on a known gene +. (chr22:49662094 G/A) 22 49662094 G A Not on a known gene +rs369965245 (chr22:49662142 G/C) 22 49662142 G C Not on a known gene +. (chr22:49662153 G/C) 22 49662153 G C Not on a known gene +rs78441842 (chr22:49662154 G/A) 22 49662154 G A Not on a known gene +rs867817902 (chr22:49662206 C/T) 22 49662206 C T Not on a known gene +rs868151360 (chr22:49662208 G/C) 22 49662208 G C Not on a known gene +rs866955819 (chr22:49662219 G/C) 22 49662219 G C Not on a known gene +rs377505644 (chr22:49662220 G/A) 22 49662220 G A Not on a known gene +. (chr22:49662226 G/A) 22 49662226 G A Not on a known gene +rs371036218 (chr22:49662285 G/C) 22 49662285 G C Not on a known gene +rs149368184 22 50277494 G A - ZBED4 20721 Zinc finger, BED-type containing 4 NM_014838.2 1 6886 3516 NP_055653.2 O75132 substitution missense exon GRCh37 50277494 50277494 Chr22(GRCh37):g.50277494G>A 184 184 NM_014838.2:c.184G>A p.Gly62Ser p.Gly62Ser 2 612552 513 3' 87.3697 9.92772 0.990339 XI.51 87.3697 9.92772 0.990339 XI.51 0 rs149368184 yes no Frequency/1000G 2 G 0.000000 0 0.006989 0.000000 0.029700 0.001000 0.003000 0.002900 0.005448 0.001291 0.001259 0.002285 0.000053 0.026369 0.004196 0.001476 0.004502 0.026369 1505 31 43 23 1 810 530 38 29 276244 24008 34160 10066 18792 30718 126316 25742 6442 0.000101 0.000083 0.000000 0.000000 0.000000 0.000846 0.000000 0.000000 0.000000 14 1 0 0 0 13 0 0 0 1477 29 43 23 1 784 530 38 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4399 12963 36 7 43 0.00418605 0.00158874 0.00330617 0.00418605 0.00158874 0.00330617 105 transition G A G>A 0.000 -0.521 G Gly GGT 0.162 S Ser AGT 0.149 62 15 5 Cat 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Tolerated 0.64 III.88 unknown 0.0 0.0 255 PASS . 0.0014 0.0028 . 0.0026 . 0.007 0.0029 0.001 0.003 0.03 ENSG00000100426:ENST00000216268:exon2:c.G184A:p.G62S . ZBED4:NM_014838:exon2:c.G184A:p.G62S . . 0.4967742 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.091 . . 155.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G62S|ZBED4|mRNA|CODING|NM_014838|NM_014838.ex.2) 0.0016 0.0033 0.0042 0.0016 0.0033 0.0042 . -1.7215 -1.795 -1.721 c . . . . . 5.975e-03 . . . 0.0009 0.0070 0.0011 0.0002 0.0011 0.0041 0.0098 0.0260 0.0010 0.0065 0.0012 0.0001 0.0014 0.0042 0.0115 0.0261 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.411 . . exonic exonic exonic . . 0.008 0.0070 . . . 0.24 0.25 182 ENSG00000100426 ZBED4 ZBED4 . . . 1.000 0.448 . 251 0.00386296 64976 216 0.00360084 59986 Likely_benign . 0 . 0.075 . . . . . . . . . 37 . 0.184 . . 0.366 . . . 0.145 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.064 . . 0 0 0 0 0 0 . 0.188 . . 0.139 . . . . . . 0 0.219 . . . . . 0.541 . 0.103 . HET 0.31 rs149368184 . . . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 12.308 0.001338 ENST00000216268 V.31 -8.46 . 0.670000 O75132 . . . 0.003306 . 0.029 . . . 0.0011 0.0058 0.0013 0.0024 5.823e-05 0.0015 0.0043 0.0042 0.0264 0.0016 0.0024 0.0012 0 0 0.0014 0.0031 0.0061 . . 0.609 . -2.295 -2.295000 . . 0.670000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.062 . 0.100 -2.295 0.045 0.0042 . . rs149368184 rs149368184 1 1538 10 1/0 0,238,251 +. 22 50297614 T C - ALG12 19358 Asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) NM_024105.3 -1 2375 1467 NP_077010.1 Q9BV10 substitution missense exon GRCh37 50297614 50297614 Chr22(GRCh37):g.50297614T>C 1339 1339 NM_024105.3:c.1339A>G p.Thr447Ala p.Thr447Ala 10 607144 101 3' 85.4153 9.18571 0.948958 7.42387 85.4153 9.18571 0.948958 7.42387 0 rs996114708 no no 0 T 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30904 8714 838 302 1620 0 14958 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition A G A>G 0.992 1.981 T Thr ACA 0.280 A Ala GCA 0.226 447 12 8 Frog 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 199.67 VIII.98 Tolerated 0.7 II.94 good 3.799E-2 0.3319 255 PASS . . . . . . . . . . . ENSG00000182858:ENST00000330817:exon10:c.A1339G:p.T447A ALG12:uc003biy.3:exon10:c.A1339G:p.T447A ALG12:NM_024105:exon10:c.A1339G:p.T447A . . 0.50753766 . . @ 101 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.501 . @ . . . . . 1 0.673 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T447A|ALG12|mRNA|CODING|NM_024105|NM_024105.ex.10) . . . . . . . 0.1987 0.148 0.199 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.806 . . exonic exonic exonic . . 0.497 @ . . . . . . ENSG00000182858 ALG12 ALG12 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.460 . . . . D 0.903 0.283 . . 37 . 0.806 . . 0.791 . . . 0.819 0.393 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.674 . . 0 0 0 0 0 0 . 0.507 . . 0.476 . . . . . . 0 0.632 . . . . . 0.450 . 0.332 . HET 0.01 . . . . . . . . . . . . . X.08 . ENST00000330817 V.31 IV.26 . 0.200000 Q9BV10 . . . . . 0.373 . . IV.26 . . . . . . . . . 0 3.236e-05 0 0 0 0 6.685e-05 0 . . 0.730 . 0.838 0.838000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.344 0.068 . 0.445 . 0.807 0.838 -0.013 . . . . . 1 1538 10 1/0 0,233,255 +rs144665682 22 50303575 G A - ALG12 19358 Asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) NM_024105.3 -1 2375 1467 NP_077010.1 Q9BV10 substitution missense exon GRCh37 50303575 50303575 Chr22(GRCh37):g.50303575G>A 631 631 NM_024105.3:c.631C>T p.Arg211Cys p.Arg211Cys 5 607144 -34 5' 95.872 9.66448 0.997331 4.93804 95.872 9.66448 0.997331 4.40276 0 GPI mannosyltransferase rs144665682 yes no Frequency/1000G 2 G benign 0.000000 0 0.016573 0.002300 0.035800 0.038700 0.003000 0.004300 0.008618 0.005534 0.001918 0.004927 0.027251 0.031681 0.004447 0.001706 0.006652 0.031681 2388 133 66 50 514 975 563 44 43 277102 24032 34416 10148 18862 30776 126614 25790 6464 0.000260 0.000083 0.000000 0.000197 0.001272 0.001430 0.000000 0.000000 0.000000 36 1 0 1 12 22 0 0 0 2316 131 66 48 490 931 563 44 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8562 4388 12950 38 18 56 0.0044186 0.00408534 0.00430571 0.0044186 0.00408534 0.00430571 72 RCV000224709.1|RCV000082163.4 germline|germline clinical testing|clinical testing Benign|Benign 1|1 not provided|not specified COSM4002211 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 0.286 R Arg CGC 0.190 C Cys TGC 0.552 211 12 4 Dog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 262.60 0.00 Deleterious 0.05 II.94 good 4.72E-2 0.2681 255 PASS 0.0041 0.01 0.0028 0.04 0.0026 0.0023 0.017 0.0043 0.039 0.003 0.036 ENSG00000182858:ENST00000330817:exon5:c.C631T:p.R211C ALG12:uc003biy.3:exon5:c.C631T:p.R211C ALG12:NM_024105:exon5:c.C631T:p.R211C . . 0.5116279 . . germline 44 . . 1.2.2016 0 0 0 0 1 0 1 0 1 0 0 0 . . . . . . 0.181 . Benign//\%//\@Benign Benign|Benign RCV000082163.4|RCV000224709.1 not_specified|not_provided MedGen|MedGen CN169374|CN221809 1 0.208 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R211C|ALG12|mRNA|CODING|NM_024105|NM_024105.ex.5) 0.0041 0.0043 0.0044 0.0041 0.0043 0.0044 . -0.9040 -0.985 -0.904 c . . . . . 9.417e-03 . . . 0.0038 0.0104 0.0020 0.0279 0.0011 0.0045 0.0113 0.0312 0.0041 0.0101 0.0020 0.0301 0.0014 0.0045 0.0145 0.0314 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.636 . . exonic exonic exonic . . 0.052 0.0166 . . . 0.29 0.14 182 ENSG00000182858 ALG12 ALG12 . . . 1.000 0.500 . 287 0.00441702 64976 204 0.00340079 59986 Likely_benign . 0 . 0.039 . . . . . . . . . 37 . 0.251 . . 0.347 . . . 0.197 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.592 . . 0 0 0 0 1 0 . 0.167 . . 0.184 . . . . . . 0 0.225 . . . . . 0.165 . 0.480 . HET 0.16 rs144665682 0.022 0.014 . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000082163.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000082163.3\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000082163.3\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . 0.012362637362637362 0.0040650406504065045 0.0027624309392265192 0.038461538461538464 0.002638522427440633 V.49 0.004548 ENST00000330817 IV.44 -2.93 . 0.170000 Q9BV10 . . . 0.004306 . 0.193 . . . 0.0050 0.0090 0.0019 0.0051 0.0271 0.0017 0.0046 0.0067 0.0317 0.0064 0.0055 0.0036 0 0.0284 0.0014 0.0037 0.0061 . . 0.730 . -0.130 -0.130000 . . 0.170000 . . 1.0E-255 0.704 0.284 . 0.016 0.001 . 0.418 . 0.075 -0.130 0.630 0.04 . . rs144665682 rs144665682 1 1538 10 1/0 0,255,255 +rs202135704 22 50523268 G A - MLC1 17082 Megalencephalic leukoencephalopathy with subcortical cysts 1 NM_139202.2 -1 3599 1134 NP_631941.1 Q15049 substitution missense exon GRCh37 50523268 50523268 Chr22(GRCh37):g.50523268G>A 64 64 NM_139202.2:c.64C>T p.Arg22Trp p.Arg22Trp 2 605908 -114 5' 83.6222 7.93332 0.984603 9.94121 83.6222 7.93332 0.984603 9.94121 0 rs202135704 yes no Frequency 1 G 0.000000 0 0.000094 0.000042 0.000116 0.000000 0.000000 0.000032 0.000150 0.000039 0.000000 0.000150 26 1 4 0 0 1 19 1 0 276330 23946 34404 10138 18838 30774 126326 25454 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 1 4 0 0 1 19 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 41 RCV000513476.1 germline clinical testing VUS 1 not provided COSM3555580|COSM3555580 Skin|Large intestine 0.000812|0.000448 1232|2231 transition C T C>T 0.000 0.367 R Arg CGG 0.207 W Trp TGG 1.000 22 11 9 Tetraodon -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C35 26.00 95.78 Deleterious 0 III.67 bad 3.184E-4 0.0002241 255 PASS . . . . . . . . . . . . . . . . 0.43421054 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.627 . @ . . . . . 1 0.867 . . 76.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.2368 -0.486 -0.237 c . . . . . 1.026e-04 . . . 9.874e-05 0.0001 0 0 0 0.0002 0 0 0.0001 7.589e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.956 . . exonic exonic exonic . . 0.108 @ . . . 0.22 0.32 182 ENSG00000100427 MLC1 MLC1 . . . 1.000 0.454 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.942 0.440 . . 37 . 0.958 . . 0.912 . . . 0.592 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.950 . . 0 0 0 0 0 0 . 0.899 . . 0.659 . . . . . . 0 0.912 . . . . . 0.484 . 0.630 . HET 0 rs202135704 . . . . . . . . . . . . XI.87 0.0 . V.54 -0.655 . 0.000000 . . . . 0.000154 . 0.174 . . . 6.573e-05 7.743e-05 8.938e-05 0 0 0 0.0001 0 3.249e-05 0 0.0002 0.0012 0 0 0.0003 0.0003 0 . . 0.391 . -0.105 -0.105000 . . 0.000000 . . 1.0E-255 0.206 0.242 . 0.151 0.336 . 0.226 . 0.197 -0.105 -0.424 0.0002 . . rs202135704 rs202135704 1 1538 10 1/0 0,255,255 +. 22 50528483 G GCGGCGGTGA - MOV10L1 7201 Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) NM_018995.2 1 3957 3636 NP_061868.1 Q9BXT6 duplication 5'UTR GRCh37 50528496 50528497 Chr22(GRCh37):g.50528488_50528496dup -30 -22 NM_018995.2:c.-30_-22dup p.? p.? 1 605794 -118 5' 72.5544 2.87535 0.040853 2.86085 72.5544 2.87535 0.040853 2.86085 0 New Donor Site 50528497 3.16015 0.010069 65.954 GGTGACGGC 255 Pass . . . . . . . . . . . . . . . . 0.6666667 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000073146 MOV10L1 MOV10L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,18 +rs145908973 22 50636514 G A - TRABD 28805 TraB domain containing NM_001320484.1 1 2322 1143 NP_001307413.1 substitution synonymous exon GRCh37 50636514 50636514 Chr22(GRCh37):g.50636514G>A 867 867 NM_001320484.1:c.867G>A p.Arg289= p.Arg289Arg 9 11 3' 80.2727 XII.58 0.946624 13.9653 80.2727 XII.58 0.958608 14.0271 0.00421991 Cryptic Donor Strongly Activated 50636516 4.87902 0.411319 69.6616 5.93374 0.778728 72.4096 rs145908973 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.000543 0.000211 0.000845 0.000000 0.000000 0.000000 0.000848 0.000000 0.001411 0.000848 149 5 29 0 0 0 106 0 9 274260 23724 34332 10074 18804 30724 124936 25288 6378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 149 5 29 0 0 0 106 0 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4394 12985 7 2 9 0.000814143 0.000454959 0.000692627 0.000814143 0.000454959 0.000692627 52 transition G A G>A 1.000 1.981 R Arg AGG 0.207 R Arg AGA 0.205 289 255 PASS . 0.0018 0.01 . 0.0026 . 0.001 0.0043 . 0.002 . . . TRABD:NM_025204:exon9:c.G855A:p.R285R . . 0.43678162 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 174.0 . . . 0.0005 0.0007 0.0008 0.0005 0.0007 0.0008 . 2.1752 . . . . . . . . 3.643e-04 . . . 0.0003 0.0005 0.0004 0 0 0.0008 0.0015 0 0.0004 0.0003 0.0005 0 0 0.0005 0.0016 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.49 0.48 182 ENSG00000170638 TRABD TRABD . . . . . . 42 0.000646393 64976 37 0.000616811 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145908973 . . . . . . . . . . . . . . . . . . . . . . . 0.000693 . . . . 5.I 0.0003 0.0005 0.0008 0 0 0 0.0008 0.0015 0 0.0001 0.0006 0.0012 0 0 0 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145908973 rs145908973 1 1538 10 1/0 0,234,255 +rs144718926 22 50695439 A T - MAPK12 6874 Mitogen-activated protein kinase 12 NM_002969.5 -1 1905 1104 NP_002960.2 P53778 substitution intron GRCh37 50695439 50695439 Chr22(GRCh37):g.50695439A>T 427-46 427-46 NM_002969.5:c.427-46T>A p.? p.? 5 4 602399 -46 3' 76.8165 6.27324 0.553872 XI.88 76.8165 6.27324 0.553872 11.1515 0 rs144718926 yes no Frequency/1000G 2 A 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.001000 0.007200 0.000652 0.000169 0.000906 0.000000 0.000000 0.000000 0.001077 0.000000 0.001261 0.001077 177 4 31 0 0 0 134 0 8 271408 23620 34204 9988 18702 30648 124410 23490 6346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 177 4 31 0 0 0 134 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8588 4389 12977 6 1 7 0.000698162 0.00022779 0.000539125 0.000698162 0.00022779 0.000539125 34 transversion T A T>A 0.000 -3.023 255 PASS . 0.0018 0.01 . 0.0013 . 0.0012 0.0072 . 0.001 . . . . . . 0.5121951 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . . 0.0002 0.0005 0.0007 0.0002 0.0005 0.0007 . 0.0131 . . . . . . . . 5.163e-04 . . . 0.0002 0.0006 0.0007 0 0 0.0011 0.0016 0 0.0002 0.0004 0.0008 0 0 0.0007 0.0015 0 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.36 0.05 182 ENSG00000188130 MAPK12 MAPK12 . . . . . . 45 0.000692563 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144718926 . . . . . . . . . . . . . . . . . . . . . . . 0.000539 . . . . . 0.0002 0.0006 0.0009 0 0 0 0.0011 0.0013 0 0.0001 0.0007 0.0024 0 0 0 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144718926 rs144718926 1 1538 10 1/0 0,250,255 +. 22 50928127 T G - MIOX 14522 Myo-inositol oxygenase NM_017584.5 1 1437 858 NP_060054.4 Q9UGB7 substitution intron GRCh37 50928127 50928127 Chr22(GRCh37):g.50928127T>G 750-50 750-50 NM_017584.5:c.750-50T>G p.? p.? 10 9 606774 -50 3' 78.9683 8.84786 0.537634 9.41351 78.9683 8.84786 0.537634 9.65189 0 0.000253 0.000098 0.000647 0.000000 0.000341 0.000546 0.000096 0.000192 0.000710 0.000647 63 2 20 0 6 16 11 4 4 248540 20428 30914 9502 17582 29284 114356 20842 5632 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 2 20 0 6 16 11 4 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -1.570 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -0.3358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000100253 MIOX MIOX . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0006 0 0.0004 5.247e-05 0.0001 0.0008 0.0005 0.0003 0.0003 0.0018 0 0 0.0017 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs181741673 22 51117713 C G - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution intron GRCh37 51117713 51117713 Chr22(GRCh37):g.51117713C>G 769-27 769-27 NM_001080420.1:c.769-27C>G p.? p.? 7 6 606230 -27 3' 88.0225 10.0007 0.972659 13.232 88.0225 10.0007 0.972659 XII.67 0 rs181741673 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000800 0.000000 0.000000 0.005000 0.004300 0.004090 0.000356 0.004709 0.013090 0.000000 0.000411 0.005676 0.002746 0.005466 0.013090 959 7 148 96 0 10 609 59 30 234466 19638 31430 7334 17436 24360 107294 21486 5488 0.000026 0.000000 0.000064 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 3 0 1 0 0 0 2 0 0 953 7 146 96 0 10 605 59 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8367 4204 12571 35 4 39 0.00416567 0.00095057 0.00309278 0.00416567 0.00095057 0.00309278 24 transversion C G C>G 0.000 -0.279 255 PASS . 0.0027 0.01 . 0.01 0.0008 0.0018 0.0043 . 0.005 . . . . . . 0.46979865 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . INTRON(MODIFIER||||SHANK3|mRNA|CODING|NM_033517|) 0.001 0.0031 0.0042 0.001 0.0031 0.0042 . 0.2186 . . . . . . . . 3.543e-03 . . . 0.0009 0.0041 0.0035 0 0.0022 0.0066 0.0162 0.0004 0.0007 0.0043 0.0036 0 0.0025 0.0065 0.0124 0.0004 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.19 0.19 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . 206 0.0031704 64976 197 0.0032841 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181741673 . . . . . . . . . . . . . . . . . . . . . . . 0.003093 . . . . . 0.0004 0.0039 0.0046 0.0133 0 0.0025 0.0053 0.0053 0.0004 0.0003 0.0055 0.0081 0.0071 0 0.0042 0.0083 0.0064 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs181741673 rs181741673 1 1538 10 1/0 0,243,255 +rs201539119 22 51117826 A G - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution synonymous exon GRCh37 51117826 51117826 Chr22(GRCh37):g.51117826A>G 855 855 NM_001080420.1:c.855A>G p.Thr285= p.Thr285Thr 7 606230 -31 5' 79.5234 7.74728 0.92528 4.37608 79.5234 7.74728 0.92528 IV.32 0 rs201539119 yes no Frequency 1 A 0.000000 0 0.005525 0.030075 0.013158 0.000000 0.038462 0.000000 0.003736 0.055556 0.029412 0.055556 40 8 1 0 1 0 24 1 5 7240 266 76 260 26 0 6424 18 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 8 1 0 1 0 24 1 5 0 0 0 0 0 0 0 0 0 RF 265 Genomes transition A G A>G 0.858 -0.763 T Thr ACA 0.280 T Thr ACG 0.116 285 248 PASS . . . . . . . . . . . . SHANK3:uc031ryd.1:exon7:c.A855G:p.T285T SHANK3:NM_033517:exon7:c.A855G:p.T285T . . 0.3 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 120.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T285|SHANK3|mRNA|CODING|NM_033517|NM_033517.ex.7) . . . . . . . 0.7045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.2 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201539119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0301 0.0055 0.0132 0 0.0385 0.0556 0.0037 0.0294 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . rs201539119 rs201539119 1 1538 10 1/0 0,236,255 +rs199499215 22 51117830 C T - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution synonymous exon GRCh37 51117830 51117830 Chr22(GRCh37):g.51117830C>T 859 859 NM_001080420.1:c.859C>T p.Leu287= p.Leu287Leu 7 606230 -27 5' 79.5234 7.74728 0.92528 4.37608 79.5234 7.74728 0.92528 4.23022 0 rs199499215 yes no Frequency 1 C 0.000000 0 0.000123 0.000388 0.000030 0.000000 0.000058 0.000000 0.000145 0.000046 0.000893 0.000388 31 6 1 0 1 0 17 1 5 251616 15482 33600 10032 17264 30744 117052 21840 5602 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 6 1 0 1 0 17 1 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 1.255 L Leu CTG 0.404 L Leu TTG 0.127 287 240 PASS . . . . . . . . . . . . SHANK3:uc031ryd.1:exon7:c.C859T:p.L287L SHANK3:NM_033517:exon7:c.C859T:p.L287L . . 0.27419356 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L287|SHANK3|mRNA|CODING|NM_033517|NM_033517.ex.7) . . . . . . . I.81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.16 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199499215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.093e-06 0 0 0 0 0 0.0002 0 0.02 0.0041 0.0128 0 0.0263 0.0417 0.0026 0.0235 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs199499215 rs199499215 1 1538 10 1/0 0,233,255 +rs202089750 22 51117841 T C - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution synonymous exon GRCh37 51117841 51117841 Chr22(GRCh37):g.51117841T>C 870 870 NM_001080420.1:c.870T>C p.Cys290= p.Cys290Cys 7 606230 -16 5' 79.5234 7.74728 0.92528 4.37608 79.5234 7.74728 0.92528 4.98327 0 rs202089750 yes no Frequency 1 T 0.000000 0 0.001036 0.003846 0.009434 0.000000 0.000000 0.000000 0.000430 0.004464 0.004762 0.009434 9 3 1 0 0 0 3 1 1 8690 780 106 266 124 0 6980 224 210 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 3 1 0 0 0 3 1 1 0 0 0 0 0 0 0 0 0 RF 219 Genomes transition T C T>C 1.000 1.174 C Cys TGT 0.448 C Cys TGC 0.552 290 250 PASS . . . . . . . . . . . . SHANK3:uc031ryd.1:exon7:c.T870C:p.C290C SHANK3:NM_033517:exon7:c.T870C:p.C290C . . 0.30555555 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 108.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C290|SHANK3|mRNA|CODING|NM_033517|NM_033517.ex.7) . . . . . . . I.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.18 0.2 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202089750 . . . . . . ID\x3dCOSM330408\x3bOCCURENCE\x3d2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . 0.0038 0.0010 0.0094 0 0 0.0045 0.0004 0.0048 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs202089750 rs202089750 1 1538 10 1/0 0,242,255 +rs145196448 22 51159798 G A - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution synonymous exon GRCh37 51159798 51159798 Chr22(GRCh37):g.51159798G>A 3585 3585 NM_001080420.1:c.3585G>A p.Lys1195= p.Lys1195Lys 22 606230 -1068 5' 76.8168 9.10332 0.984839 8.88917 76.8168 9.10332 0.984839 8.88917 0 rs145196448 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.001000 0.000000 0.008000 0.004300 0.006411 0.001805 0.004537 0.010293 0.000053 0.003382 0.010073 0.002022 0.006847 0.010293 1764 43 156 104 1 104 1260 52 44 275132 23828 34386 10104 18836 30748 125086 25718 6426 0.000044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.000000 0.000311 6 0 0 0 0 0 5 0 1 1752 43 156 104 1 104 1250 52 42 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8242 4087 12329 84 7 91 0.0100889 0.00170982 0.00732689 0.0100889 0.00170982 0.00732689 41 transition G A G>A 0.118 0.125 K Lys AAG 0.575 K Lys AAA 0.425 1195 255 PASS . 0.0027 0.01 . 0.01 . 0.0024 0.0043 . 0.008 0.001 . . SHANK3:NM_033517:exon21:c.G3495A:p.K1165K . . 0.4587156 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1165|SHANK3|mRNA|CODING|NM_033517|NM_033517.ex.21) 0.0017 0.0073 0.01 0.0017 0.0073 0.01 . 1.1370 . . . . . . . . 6.892e-03 . . . 0.0027 0.0069 0.0040 0 0.0023 0.0113 0.0062 0.0039 0.0026 0.0070 0.0040 0.0001 0.0024 0.0107 0.0047 0.0039 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.46 0.42 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . 525 0.00807991 64976 514 0.00856867 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145196448 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.007327 . . . . . 0.0019 0.0066 0.0044 0.0104 5.808e-05 0.0019 0.0103 0.0075 0.0034 0.0016 0.0052 0.0084 0.0066 0 0.0026 0.0084 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs145196448 rs145196448 1 1538 10 1/0 0,253,255 +rs199871809 22 51220568 C T - RABL2B 9800 RAB, member of RAS oncogene family like 2B NM_001350008.1 -1 2398 720 NP_001336937.1 substitution intron GRCh37 51220568 51220568 Chr22(GRCh37):g.51220568C>T 107+48 107+48 NM_001350008.1:c.107+48G>A p.? p.? 3 3 605413 48 5' 77.6903 7.44314 0.74348 3.71304 77.6903 7.44314 0.74348 3.57243 0 rs199871809 yes no Frequency/1000G 2 C 0.000000 0 0.004963 0.001338 0.004391 0.013170 0.000580 0.008438 0.007276 0.002571 0.004038 0.013170 520 18 67 29 6 78 276 35 11 104776 13456 15260 2202 10346 9244 37932 13612 2724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 520 18 67 29 6 78 276 35 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.360 226 PASS 0.04 0.07 0.09 0.03 0.11 . . . . . . . . . . . 0.23121387 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 173.0 . . . . . . . . . . -0.2531 . . . . . . . . 5.033e-03 . . . 0.0079 0.0337 0.0302 0.0018 0.0545 0.0423 0.0303 0.0493 0.0090 0.0439 0.0342 0 0.0593 0.0808 0.1 0.0506 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.52 0.31 182 ENSG00000184319 RPL23AP82 RPL23AP82 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0057 0.0046 0.0140 0.0006 0.0023 0.0088 0.0051 0.0084 0.0016 0.0028 0 0.0049 0.0007 0.0037 0.0039 0.0013 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.11 . . rs199871809 rs199871809 1 1538 10 1/0 0,214,255 +rs199871809 22 51220568 C T - RPL23AP82 33730 Ribosomal protein L23a pseudogene 82 NR_026981.1 1 1520 0 substitution intron GRCh37 51220568 51220568 Chr22(GRCh37):g.51220568C>T 242-980 242-980 NR_026981.1:n.242-980C>T p.? p.? 2 1 -980 3' 87.9195 7.91713 0.978353 8.14229 87.9195 7.91713 0.978353 8.14229 0 rs199871809 yes no Frequency/1000G 2 C 0.000000 0 0.004963 0.001338 0.004391 0.013170 0.000580 0.008438 0.007276 0.002571 0.004038 0.013170 520 18 67 29 6 78 276 35 11 104776 13456 15260 2202 10346 9244 37932 13612 2724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 520 18 67 29 6 78 276 35 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.360 226 PASS 0.04 0.07 0.09 0.03 0.11 . . . . . . . . . . . 0.23121387 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 173.0 . . . . . . . . . . -0.2531 . . . . . . . . 5.033e-03 . . . 0.0079 0.0337 0.0302 0.0018 0.0545 0.0423 0.0303 0.0493 0.0090 0.0439 0.0342 0 0.0593 0.0808 0.1 0.0506 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.52 0.31 182 ENSG00000184319 RPL23AP82 RPL23AP82 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0057 0.0046 0.0140 0.0006 0.0023 0.0088 0.0051 0.0084 0.0016 0.0028 0 0.0049 0.0007 0.0037 0.0039 0.0013 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.11 . . rs199871809 rs199871809 1 1538 10 1/0 0,214,255 +. X 307910 TGTAGACGCG T - PPP2R3B 13417 Protein phosphatase 2 regulatory subunit B''beta NM_013239.4 -1 2426 1728 NP_037371.2 Q9Y5P8 delins intron GRCh37 307910 307919 ChrX(GRCh37):g.307910_307919delinsT 717+50 717+59 NM_013239.4:c.717+50_717+59delinsA p.? p.? 4 4 300339 50 5' 90.3087 9.21919 0.859507 9.88304 90.3087 9.21919 0.859507 10.1654 0 A GCGTCTACAC 255 Pass . . . . . . . . . . . . . . . . 0.5660377 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . INTRON(MODIFIER||||PPP2R3B|mRNA|CODING|NM_013239|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000167393 PPP2R3B PPP2R3B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,25 +rs62581487 X 307920 G C - PPP2R3B 13417 Protein phosphatase 2 regulatory subunit B''beta NM_013239.4 -1 2426 1728 NP_037371.2 Q9Y5P8 substitution intron GRCh37 307920 307920 ChrX(GRCh37):g.307920G>C 717+49 717+49 NM_013239.4:c.717+49C>G p.? p.? 4 4 300339 49 5' 90.3087 9.21919 0.859507 9.88304 90.3087 9.21919 0.859507 9.85002 0 0.000599 0.000799 0.000173 0.000000 0.000000 0.000774 0.001016 0.001062 0.000000 0.001062 10 2 1 0 0 1 5 1 0 16684 2502 5784 414 598 1292 4922 942 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 1073 Exomes 1859 1635 3494 6345 2321 8666 0.226597 0.413296 0.287336 0.773403 0.586704 0.712664 59 transversion C G C>G 0.024 0.044 111 PASS 0.49 0.67 0.61 0.78 0.72 . . . . . . . . . . . 0.516129 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||PPP2R3B|mRNA|CODING|NM_013239|) 0.59 0.71 0.77 0.59 0.71 0.77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.26 0.12 182 ENSG00000167393 PPP2R3B PPP2R3B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.207 0.181 . . . . . . . . . . . . . . . . . . . . . 0.712664 . . . . . 0.0008 0.0006 0.0002 0 0 0.0011 0.0010 0 0.0008 . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.78 rs62581487 rs62581487 rs62581487 rs62581487 1 1538 10 1/0 115,1,0 +rs73618051 X 1420243 A G - CSF2RA 2435 Colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) NM_001161530.1 1 1787 1305 NP_001155002.1 substitution intron GRCh37 1420243 1420243 ChrX(GRCh37):g.1420243A>G 946+724 946+724 NM_001161530.1:c.946+724A>G p.? p.? 8 8 306250 724 5' 81.5823 8.72287 0.984052 7.95719 81.5823 8.72287 0.984052 7.95719 0 0.017772 0.056700 0.002000 0.004000 0.005000 0.004300 0.000320 0.000127 0.000000 0.000000 0.000000 0.000000 0.000496 0.000000 0.001139 0.000496 9 1 0 0 0 0 7 0 1 28134 7892 760 292 1610 0 14106 2596 878 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 32 Genomes transition A G A>G 0.130 0.044 111 PASS . . . . . 0.057 0.018 0.0043 0.004 0.005 0.002 . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0178 . . . 0.19 0.11 182 ENSG00000198223 . CSF2RA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0 0 0.0005 0.0011 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.033 . rs73618051 rs73618051 rs73618051 1 1538 255 1.I 0,0,255 +rs146302062 X 3002412 C T - ARSF 721 Arylsulfatase F NM_001201538.1 1 2082 1773 NP_001188467.1 P54793 substitution missense exon GRCh37 3002412 3002412 ChrX(GRCh37):g.3002412C>T 535 535 NM_001201538.1:c.535C>T p.Arg179Cys p.Arg179Cys 6 300003 129 3' 82.6447 9.75943 0.95692 7.07587 82.6447 9.75943 0.95692 7.07587 0 Sulfatase Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase rs146302062 yes no Frequency/1000G 2 C 0.000000 0 0.001589 0.000000 0.007000 0.000000 0.001300 0.000000 0.002345 0.000386 0.000772 0.000000 0.000072 0.003709 0.003860 0.000786 0.001046 0.003860 470 7 21 0 1 71 350 15 5 200397 18136 27192 7482 13886 19143 90681 19095 4782 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000022 0.000000 0.000000 1 0 0 0 0 0 1 0 0 294 0 0 0 0 0 0 0 0 174 2 5 0 0 42 120 5 0 PASS 0 Exomes+Genomes 6697 3832 10529 31 3 34 0.00460761 0.000782269 0.00321878 0.00460761 0.000782269 0.00321878 115 COSM1183682|COSM1183682 Skin|Large intestine 0.000812|0.000448 1232|2231 transition C T C>T 0.000 0.125 R Arg CGT 0.082 C Cys TGT 0.448 179 12 4 Dog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.1 III.49 unknown 0.0 0.0 255 PASS . . . . . . 0.0016 . . 0.001 0.0051 . . . . . 0.41618496 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.501 . @ . . . . . 1 0.805 . . 173.0 . . . 0.0008 0.0032 0.0046 0.0008 0.0032 0.0046 . . . . . . . . . . 2.376e-03 . . . 0.0004 0.0023 0.0002 0 0.0004 0.0036 0 0.0038 0.0004 0.0023 0.0002 0 0.0007 0.0033 0 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.937 . . exonic exonic exonic . . 0.215 0.0016 . . . 0.17 0.28 182 ENSG00000062096 ARSF ARSF . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . 0.128 . . . . T 0.273 0.011 . . 37 . 0.824 . . 0.709 . . . 0.323 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.506 . . 0 0 0 0 0 0 . 0.277 . . 0.300 . . . . . . 0 0.246 . . . . . 0.003 . 0.415 . HET 0.06 rs146302062 . . . . . . . . . . . . 0.3434 6.22E-4 . III.44 I.43 . 0.190000 P54793 . . . 0.003219 . 0.039 . . . 0.0002 0.0024 0.0008 0 7.776e-05 0.0008 0.0039 0.0012 0.0037 0.0007 0.0019 0 0 0 0.0008 0.0034 0 . . . . 0.330 0.330000 . . 0.190000 . . 1.0E-255 0.016 0.191 . 0.150 0.187 . 0.221 . 0.308 0.330 0.662 0.0046 . . rs146302062 rs146302062 1 1538 10 1/0 0,231,255 +rs200193382 X 6451924 T C - VCX3A 18159 Variable charge, X-linked 3A NM_016379.3 -1 995 561 NP_057463.2 Q9NNX9 substitution synonymous exon GRCh37 6451924 6451924 ChrX(GRCh37):g.6451924T>C 423 423 NM_016379.3:c.423A>G p.Glu141= p.Glu141Glu 3 300533 321 3' 91.2377 X.15 0.87118 XI.23 91.2377 X.15 0.87118 XI.23 0 rs200193382 no no 0 T 0.000000 0 0.001237 0.001454 0.000089 0.000639 0.000311 0.000129 0.001416 0.003658 0.001379 0.003658 196 17 2 4 3 2 103 60 5 158431 11693 22540 6259 9631 15532 72748 16403 3625 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 194 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 RF 0 Exomes+Genomes transition A G A>G 0.417 1.255 E Glu GAA 0.417 E Glu GAG 0.583 141 224 PASS . . . . . . . . . . . . . VCX3A:NM_016379:exon3:c.A423G:p.E141E . . 0.2559524 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 168.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E141|VCX3A|mRNA|CODING|NM_016379|NM_016379.ex.3) . . . . . . . . . . . . . . . . . . . . 0.0201 0.0068 0.0028 0.0054 0.0042 0.0065 0.0095 0.0019 0.0215 0.0071 0.0028 0.0048 0.0066 0.0071 0.0070 0.0019 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.18 182 ENSG00000169059 VCX3A VCX3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200193382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0009 8.988e-05 0.0006 0.0001 0.0034 0.0010 0.0006 0.0001 0.0056 0.0071 0 0 0.0056 0.0066 0.0085 0.0098 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs200193382 rs200193382 1 1538 10 1/0 0,219,255 +rs200810334 X 6451992 C G - VCX3A 18159 Variable charge, X-linked 3A NM_016379.3 -1 995 561 NP_057463.2 Q9NNX9 substitution missense exon GRCh37 6451992 6451992 ChrX(GRCh37):g.6451992C>G 355 355 NM_016379.3:c.355G>C p.Glu119Gln p.Glu119Gln 3 300533 253 3' 91.2377 X.15 0.87118 XI.23 91.2377 X.15 0.87118 XI.23 0 Cryptic Donor Strongly Activated 6451990 0.020718 65.0219 1.62332 0.070216 68.0766 rs200810334 yes no Frequency 1 C 0.000000 0 0.000245 0.000095 0.000095 0.000000 0.000000 0.000092 0.000394 0.000469 0.000000 0.000469 31 1 2 0 0 1 21 6 0 126431 10571 20947 4851 9513 10906 53367 12795 3481 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 PASS 0 Exomes+Genomes 5626 2924 8550 10 19 29 0.00177431 0.006456 0.00338035 0.00177431 0.006456 0.00338035 5 transversion G C G>C 0.000 -0.279 E Glu GAG 0.583 Q Gln CAG 0.744 119 8 3 Western lowland gorilla 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 29.27 0.00 Tolerated 1 III.89 good 2.634E-1 0.0009655 217 PASS . . . . . . . . . . . . . VCX3A:NM_016379:exon3:c.G355C:p.E119Q . . 0.20512821 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.003 . . 234.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E119Q|VCX3A|mRNA|CODING|NM_016379|NM_016379.ex.3) 0.0065 0.0034 0.0018 0.0065 0.0034 0.0018 . . . . . . . . . . 1.498e-04 . . . 0.0010 0.0004 0 0 0 0.0007 0 0 0.0012 0.0002 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . . @ . . . 0.21 0.21 182 ENSG00000169059 VCX3A VCX3A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . 0.022 . . 0.283 . . . 0.123 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.462 . . 0.325 . . . . . . 0 0.072 . . . . . 0.109 . 0.083 . HET 0.09 rs200810334 . . . . . . . . . . . . IV.78 0.010008 . . . . 0.640000 Q9NNX9 . . . 0.003380 . 0.008 . . . 0 0.0002 4.899e-05 0 0 0.0006 0.0004 0 9.169e-05 0.0002 0.0002 0.0019 0 0 0 0.0002 0 . . . . -0.455 -0.455000 . . 0.640000 . . 1.0E-217 0.000 0.063 . 0.043 0.006 . 0.012 . 0.012 -0.455 0.542 0.0065 . . rs200810334 rs200810334 1 1538 10 1/0 0,199,255 +rs149104091 X 7243325 C T - STS 11425 Steroid sulfatase (microsomal), isozyme S NM_001320750.1 1 6603 1773 NP_001307679.1 substitution intron GRCh37 7243325 7243325 ChrX(GRCh37):g.7243325C>T 1118-55 1118-55 NM_001320750.1:c.1118-55C>T p.? p.? 9 8 300747 -55 3' 90.9429 10.707 0.986984 7.43716 90.9429 10.707 0.986984 7.44339 0 Cryptic Donor Strongly Activated 7243319 5.01016 0.573133 74.6683 7.97184 0.983633 80.4469 rs149104091 yes no Frequency/1000G 2 C 0.000000 0 0.004238 0.000000 0.000000 0.000000 0.017000 0.005700 0.008250 0.002209 0.001600 0.005319 0.000000 0.000000 0.011797 0.012035 0.009615 0.012035 179 13 1 1 0 0 125 32 7 21697 5884 625 188 1017 0 10596 2659 728 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123 0 0 0 0 0 0 0 0 56 4 0 0 0 0 39 11 2 PASS 44 Genomes transition C T C>T 0.000 -0.198 255 PASS . 0.01 0.01 . 0.02 . 0.0042 0.0043 . 0.013 . . . . . . 0.47761193 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . INTRON(MODIFIER||||STS|mRNA|CODING|NM_000351|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.31 0.36 182 ENSG00000101846 STS STS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149104091 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv2435e1 . . . . . . . . . . . . . . . 0.0022 0.0082 0.0016 0.0053 0 0.0120 0.0118 0.0096 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs149104091 rs149104091 1 1538 10 1/0 0,255,255 +rs200761534 X 7811859 A G - VCX 12667 Variable charge, X-linked NM_013452.2 1 967 621 NP_038480.2 Q9H320 substitution synonymous exon GRCh37 7811859 7811859 ChrX(GRCh37):g.7811859A>G 423 423 NM_013452.2:c.423A>G p.Glu141= p.Glu141Glu 3 300229 321 3' 91.2377 X.15 0.87118 XI.33 91.2377 X.15 0.87118 XI.33 0 rs200761534 no no 0 0.000000 0 0.001056 0.002303 0.001259 0.001104 0.000777 0.000680 0.000901 0.000928 0.002201 0.002303 127 20 20 4 8 8 49 12 6 120308 8684 15891 3622 10301 11763 54396 12925 2726 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000155 0.000000 2 0 0 0 0 0 1 1 0 116 0 0 0 0 0 0 0 0 7 1 1 0 1 2 1 0 1 RF 0 Exomes+Genomes transition A G A>G 0.992 0.367 E Glu GAA 0.417 E Glu GAG 0.583 141 194 PASS . . . . . . . . . . . . VCX:uc004crz.3:exon3:c.A423G:p.E141E VCX:NM_013452:exon3:c.A423G:p.E141E . . 0.14423077 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 104.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E141|VCX|mRNA|CODING|NM_013452|NM_013452.ex.3) . . . . . . . . . . . . . . . . . . . . 0.0022 0.0250 0.1716 0.0131 0.0101 0.0055 0.0086 0.0015 0.0018 0.0233 0.1732 0.0143 0.0136 0.0081 0.0091 0.0015 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.12 0.11 182 ENSG00000182583 VCX VCX . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200761534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0006 0.0007 0.0011 0.0006 0.0003 0.0005 0.0004 0.0007 0.0055 0.0079 0.0459 0 0.0051 0.0063 0.0072 0.0213 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs708469 rs708469 rs708469 rs200761534 1 1538 10 1/0 0,228,255 +rs376404237 X 8434038 G C - VCX3B 31838 Variable charge, X-linked 3B NM_001001888.3 1 1175 741 NP_001001888.3 Q9H321 substitution missense exon GRCh37 8434038 8434038 ChrX(GRCh37):g.8434038G>C 355 355 NM_001001888.3:c.355G>C p.Glu119Gln p.Glu119Gln 3 300981 253 3' 91.2377 X.15 0.87118 XI.33 91.2377 X.15 0.87118 XI.33 0 Cryptic Donor Strongly Activated 8434040 0.020718 65.0219 1.62332 0.070216 68.0766 0.000063 0.000134 0.000080 0.000000 0.000149 0.000130 0.000045 0.000000 0.000000 0.000149 6 1 1 0 1 1 2 0 0 95364 7464 12442 3368 6702 7718 44840 10317 2513 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 0.044 E Glu GAG 0.583 Q Gln CAG 0.744 119 8 3 Western lowland gorilla 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 29.27 0.00 Tolerated 0.73 IV.32 good 2.626E-1 0.000966 219 PASS . . . . . . . . . . . . . VCX3B:NM_001001888:exon3:c.G355C:p.E119Q . . 0.2364532 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.004 . . 203.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E119Q|VCX3B|mRNA|CODING|NM_001001888|NM_001001888.ex.3) . . . . . . . . . . . . . . . . . . . . 0 0.0009 0 0 0 0 0.0132 0.0062 0 0.0006 0 0.0021 0 0 0.0125 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.104 @ . . . . . . ENSG00000205642 VCX3B VCX3B . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . T 0.050 0.002 . . 37 . 0.047 . . 0.331 . . . 0.120 0.191 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.314 . . 0.195 . . . . . . 0 0.089 . . . . . 0.181 . 0.044 . HET 0.02 . . . . . . . . . . . . . V.84 . . 0.669 -0.772 . 0.000000 . . . . . . 0.038 . . . 0 3.514e-05 0 0 0.0002 0 2.481e-05 0 0.0001 0.0003 0.0003 0.0036 0 0 0 0.0002 0 . . . . -0.263 -0.263000 . . 0.000000 . . 1.0E-219 0.000 0.063 . 0.062 0.012 . 0.061 . 0.010 -0.263 0.562 . . . . . 1 1538 10 1/0 0,209,255 +rs199867151 X 8434106 A G - VCX3B 31838 Variable charge, X-linked 3B NM_001001888.3 1 1175 741 NP_001001888.3 Q9H321 substitution synonymous exon GRCh37 8434106 8434106 ChrX(GRCh37):g.8434106A>G 423 423 NM_001001888.3:c.423A>G p.Glu141= p.Glu141Glu 3 300981 321 3' 91.2377 X.15 0.87118 XI.33 91.2377 X.15 0.87118 XI.33 0 rs199867151 yes no Frequency/1000G 2 A 0.000000 0 0.046093 0.073800 0.018100 0.090300 0.009100 0.021000 0.005693 0.003827 0.007212 0.000000 0.039864 0.009671 0.001810 0.000886 0.008696 0.039864 273 11 39 0 129 35 43 6 10 47953 2874 5408 1143 3236 3619 23751 6772 1150 0.000375 0.000000 0.000000 0.000000 0.004944 0.000000 0.000084 0.000000 0.000000 9 0 0 0 8 0 1 0 0 250 0 0 0 0 0 0 0 0 5 1 1 0 3 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.315 1.255 E Glu GAA 0.417 E Glu GAG 0.583 141 234 PASS . . . . . 0.056 0.046 0.016 0.069 0.007 0.013 . VCX3B:uc011mht.2:exon3:c.A423G:p.E141E VCX3B:NM_001001888:exon3:c.A423G:p.E141E . . 0.25688073 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E141|VCX3B|mRNA|CODING|NM_001001888|NM_001001888.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0461 . . . 0.21 0.13 182 ENSG00000205642 VCX3B VCX3B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199867151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0059 0.0073 0 0.0402 0.0007 0.0018 0.0096 0.0097 0.0048 0.0022 0 0 0 0.0030 0.0017 0 . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . rs708469 rs199867151 1 1538 10 1/0 0,238,255 +rs755967311 X 8434514 C G - VCX3B 31838 Variable charge, X-linked 3B NM_001001888.3 1 1175 741 NP_001001888.3 Q9H321 substitution 3'UTR GRCh37 8434514 8434514 ChrX(GRCh37):g.8434514C>G *90 *90 NM_001001888.3:c.*90C>G p.? p.? 3 300981 729 3' 91.2377 X.15 0.87118 XI.33 91.2377 X.15 0.87118 XI.33 0 rs755967311 yes no Frequency/1000G 2 C 0.013245 G 50 0.013245 0.004000 0.004200 0.000000 0.045700 0.015300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4241 184 150 52 52 0 2725 899 179 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 51 Genomes transversion C G C>G 0.000 1.416 196 PASS . . . . . 0.003 0.013 0.011 . 0.035 0.0031 . . . . . 0.15 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . UTR_3_PRIME(MODIFIER||||VCX3B|mRNA|CODING|NM_001001888|NM_001001888.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 ncRNA_exonic UTR3 . . . 0.0132 . . . . . . ENSG00000205642 VCX-8r VCX3B . . NM_001001888:c.*90C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs755967311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs373168017 X 10096128 C T - WWC3 29237 WWC family member 3 NM_015691.3 1 6454 3279 NP_056506.2 Q9ULE0 substitution missense exon GRCh37 10096128 10096128 ChrX(GRCh37):g.10096128C>T 2207 2207 NM_015691.3:c.2207C>T p.Thr736Met p.Thr736Met 16 -74 5' 67.601 6.66111 0.471539 X.19 67.601 6.66111 0.471539 9.83642 0 rs373168017 yes no Frequency 1 C 0.000000 0 0.000011 0.000082 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000082 2 1 1 0 0 0 0 0 0 178527 12244 26544 7288 12863 19124 79968 16439 4057 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 83 Exomes 6728 3834 10562 0 1 1 0 0.000260756 9.46701e-05 0 0.000260756 9.46701e-05 76 transition C T C>T 0.000 0.770 T Thr ACG 0.116 M Met ATG 1.000 736 11 3 Opossum -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 255.37 0.00 Tolerated 0.23 III.77 good 3.177E-1 0.469 255 PASS . . . . . . . . . . . . . WWC3:NM_015691:exon16:c.C2207T:p.T736M . . 0.50476193 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.227 . @ . . . . . 1 0.283 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T736M|WWC3|mRNA|CODING|NM_015691|NM_015691.ex.16) 0.0003 0.0001 . 0.0003 0.0001 . . . . . . . . . . . 7.892e-06 . . . 0.0001 1.543e-05 0 0 0 0 0 0 0.0001 1.32e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.052 . . exonic exonic exonic . . 0.270 @ . . . 0.24 0.29 182 ENSG00000047644 WWC3 WWC3 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . 0.036 . . . . T 0.387 0.017 . . 37 . 0.054 . . 0.335 . . . 0.520 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.344 . . 0 0 0 0 0 0 . 0.434 . . 0.350 . . . . . . 0 0.319 . . . . . 0.094 . 0.123 . HET 0.11 rs373168017 . . . . . . . . . . . . 4.0984 3.11E-4 . 5.II II.22 . . Q9ULE0 . . Name\x3ddgv2438e1 0.000095 . 0.106 . . II.22 8.167e-05 1.12e-05 3.767e-05 0 0 0 0 0 0 . . . . . . . . . . . . 0.359 0.359000 . . . . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.166 . 0.320 0.359 0.827 0.0003 . . rs373168017 rs373168017 1 1538 10 1/0 0,255,255 +rs745455658 X 15711114 A G - CA5BP1 29544 Carbonic anhydrase VB pseudogene 1 NR_026551.1 1 994 0 substitution exon GRCh37 15711114 15711114 ChrX(GRCh37):g.15711114A>G 357 357 NR_026551.1:n.357A>G 4 29 3' 78.8928 8.93569 0.654197 VI.69 78.8928 8.93569 0.654197 6.89454 0 rs745455658 yes no Frequency 1 A 0.000000 0 0.000065 0.000055 0.000185 0.000000 0.000000 0.000157 0.000044 0.000000 0.000000 0.000185 13 1 5 0 0 3 4 0 0 199637 18097 27071 7464 13891 19069 90223 19059 4763 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 0 0 0 5 0 3 0 0 2 0 0 0 PASS 0 Exomes+Genomes COSM4998923|COSM4998923 Thyroid|Pancreas 0.002677|0.000569 747|1758 transition A G A>G 0.945 0.044 221 PASS . . . . . . . . . . . . CA5BP1:uc011mir.1:exon4:c.A77G:p.K26R . . . 0.2173913 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q119|CA5BP1|Non-coding_transcript|NON_CODING|NR_026551|NR_026551.ex.4) . . . . . . . . . . . . . . . . 7.104e-05 . . . 0 1.542e-05 0 0 0 3.348e-05 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000186312 CA5BP1 CA5BP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 rs745455658 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv2439e1 . . . . . . 0 6.738e-05 0.0002 0 0 0 5.017e-05 0 0.0002 0.0002 4.641e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs2257278 X 15782747 C A - CA5B 1378 Carbonic anhydrase VB, mitochondrial NM_007220.3 1 6032 954 NP_009151.1 Q9Y2D0 substitution synonymous exon GRCh37 15782747 15782747 ChrX(GRCh37):g.15782747C>A 189 189 NM_007220.3:c.189C>A p.Arg63= p.Arg63Arg 3 300230 47 3' 77.5189 VI.92 0.75277 5.92626 77.5189 VI.92 0.75277 6.15064 0 Alpha carbonic anhydrase rs2257278 yes no Frequency/1000G 2 A 0.000000 0 0.000265 0.000000 0.000000 0.000000 0.001300 0.000000 0.000270 0.000115 0.001139 0.000000 0.000690 0.000087 0.000103 0.000000 0.000000 0.001139 45 2 25 0 9 1 8 0 0 166834 17455 21957 4300 13041 11458 77664 17084 3875 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 0 0 0 0 0 0 0 0 13 0 4 0 1 0 8 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.323 -2.216 R Arg CGC 0.190 R Arg CGA 0.110 63 200 PASS 0.01 0.01 . 0.01 0.02 . 0.0003 . . 0.001 . . CA5B:uc004cxe.3:exon3:c.C189A:p.R63R CA5B:NM_007220:exon3:c.C189A:p.R63R . . 0.16091955 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R63|CA5B|mRNA|CODING|NM_007220|NM_007220.ex.3) . . . . . . . . . . . . . . . . 2.776e-04 . . . 0.0001 0.0004 0.0009 0.0009 0 0.0002 0 0.0002 0.0002 0.0002 0.0006 0.0005 0 0.0002 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0003 . . . 0.27 0.32 182 ENSG00000169239 CA5B CA5B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2257278 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2739978 . . . . . . 0.0002 0.0003 0.0011 0 0.0007 0 8.899e-05 0 8.728e-05 0 0.0001 0.0016 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . 0.02 rs2257278 rs2257278 rs2257278 rs2257278 1 1538 10 1/0 0,237,255 +rs185734414 X 17092389 G T - REPS2 9963 RALBP1 associated Eps domain containing 2 NM_004726.2 1 7953 1983 NP_004717.2 Q8NFH8 substitution intron GRCh37 17092389 17092389 ChrX(GRCh37):g.17092389G>T 1379+107 1379+107 NM_004726.2:c.1379+107G>T p.? p.? 12 12 300317 107 5' 72.5078 6.12739 0.801047 0.641868 72.5078 6.12739 0.801047 0.641868 0 rs185734414 yes no Frequency/1000G 2 G 0.000000 0 0.002119 0.000000 0.000000 0.000000 0.002600 0.011500 0.001385 0.000339 0.001613 0.000000 0.000000 0.000000 0.002464 0.000378 0.000000 0.002464 30 2 1 0 0 0 26 1 0 21660 5894 620 188 1034 0 10551 2649 724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 0 0 0 0 0 0 0 13 1 0 0 0 0 12 0 0 PASS 44 Genomes transversion G T G>T 0.000 -0.521 255 PASS . 0.0036 0.02 . 0.0017 . 0.0021 0.0086 . 0.002 . . . . . . 0.5555556 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0021 . . . 0.36 0.26 182 ENSG00000169891 REPS2 REPS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185734414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0014 0.0016 0 0 0.0004 0.0025 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs185734414 rs185734414 1 1538 10 1/0 0,255,255 +rs5927629 (chrX:30872602 A/G) X 30872602 A G Transcript NM_152787.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TAB3 +rs74495781 X 36091379 A C - CFAP47 26708 Cilia and flagella associated protein 47 NM_001304548.1 1 9943 9564 NP_001291477.1 substitution missense exon GRCh37 36091379 36091379 ChrX(GRCh37):g.36091379A>C 4589 4589 NM_001304548.1:c.4589A>C p.His1530Pro p.His1530Pro 29 -103 5' 90.0021 8.68007 0.858815 2.56068 90.0021 8.68007 0.858815 2.56068 0 rs74495781 yes no Frequency/1000G 2 A 0.000000 0 0.004238 0.001000 0.000000 0.000000 0.013100 0.009500 0.009649 0.002219 0.006444 0.022074 0.000000 0.001411 0.013326 0.013083 0.014286 0.022074 1928 40 175 165 0 27 1204 249 68 199811 18025 27156 7475 13877 19138 90348 19032 4760 0.000070 0.000000 0.000000 0.000268 0.000000 0.000000 0.000089 0.000210 0.000000 7 0 0 1 0 0 4 2 0 1208 0 0 0 0 0 0 0 0 706 6 44 61 0 20 469 80 26 PASS 0 Exomes+Genomes 6646 3823 10469 82 10 92 0.0121879 0.00260892 0.0087113 0.0121879 0.00260892 0.0087113 109 transversion A C A>C 0.000 -0.198 H His CAC 0.587 P Pro CCC 0.328 1530 12 1 -2 -2 -4 0.58 0.39 10.IV 8 96 32.5 77 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . 0.01 0.02 . 0.01 0.0008 0.0042 0.0072 . 0.0099 . . CHDC2:uc004ddk.1:exon4:c.A314C:p.H105P CFAP47:NM_001304548:exon29:c.A4589C:p.H1530P . . 0.44 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.124 . . 100.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cCc|H1530P|CFAP47|mRNA|CODING|NM_001304548|NM_001304548.ex.29) 0.0026 0.0087 0.012 0.0026 0.0087 0.012 . . . . . . . . . . 0.010 . . . 0.0020 0.0075 0.0046 0 0.0136 0.0128 0.0123 0.0007 0.0016 0.0096 0.0047 0 0.0150 0.0155 0.0107 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.095 0.0042 . . . 0.24 0.22 182 ENSG00000176034 CHDC2 CFAP47 . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . 0.051 . . . . . . . . . 37 . 0.068 . . 0.147 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.825 . . 0 0 0 0 0 0 . 0.473 . . 0.312 . . . . . . 0 0.363 . . . . . 0.097 . 0.372 . HET 0.12 rs74495781 . . . . . . . 0.007233273056057866 0.0 0.0056179775280898875 0.0 0.006631299734748011 4.1604 0.003423 . IV.96 -1.03 . 0.150000 Q8N9S7 . . . 0.008711 . 0.122 . . . 0.0021 0.0098 0.0063 0.0217 0 0.0131 0.0136 0.0148 0.0014 0.0024 0.0087 0.0134 0.0374 0 0.0128 0.0110 0.0113 . . . . -0.643 -0.643000 . . 0.150000 . . 1.0E-255 0.000 0.063 . 0.083 0.707 . 0.239 . 0.624 -0.643 0.804 0.02 . . rs74495781 rs74495781 1 1538 10 1/0 0,254,255 +rs185811149 X 37061507 C T - FTH1P18 3988 Ferritin, heavy polypeptide 1 pseudogene 18 NM_001271682.1 -1 913 666 NP_001258611.1 substitution synonymous exon GRCh37 37061507 37061507 ChrX(GRCh37):g.37061507C>T 255 255 NM_001271682.1:c.255G>A p.Ala85= p.Ala85Ala 1 rs185811149 yes no Frequency/1000G 2 C 0.000000 0 0.000530 0.001000 0.000000 0.000000 0.000000 0.001900 0.000185 0.000000 0.000000 0.000000 0.000000 0.000000 0.000287 0.000000 0.001397 0.000287 4 0 0 0 0 0 3 0 1 21603 5932 619 183 1047 0 10456 2650 716 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 PASS 44 Genomes transition G A G>A 1.000 1.497 A Ala GCG 0.107 A Ala GCA 0.226 85 255 PASS . 0. . . . 0.0008 0.0005 0.0014 . . . . FTH1P18:uc031tjg.1:exon1:c.G255A:p.A85A FTH1P18:NM_001271682:exon1:c.G255A:p.A85A . . 0.52020204 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 198.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A85|FTH1P18|mRNA|CODING|NM_001271682|NM_001271682.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . 0.0005 . . . 0.29 0.01 182 ENSG00000243048 FTH1P18 FTH1P18 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0. . . rs185811149 rs185811149 1 1538 10 1/0 0,230,244 +. X 44202890 G GC - EFHC2 26233 EF-hand domain (C-terminal) containing 2 NM_025184.3 -1 3252 2250 NP_079460.2 Q5JST6 duplication 5'UTR GRCh37 44202890 44202891 ChrX(GRCh37):g.44202891dup -57 -57 NM_025184.3:c.-57dup p.? p.? 1 300817 -98 5' 82.0199 9.53779 0.974478 XI.38 82.0199 9.53779 0.974478 XI.38 0 rs5902346 yes no Frequency/1000G 2 0.000000 0 0.999735 1.000000 0.998600 1.000000 1.000000 1.000000 0.999962 0.999917 0.999950 1.000000 0.999776 0.999930 1.000000 1.000000 1.000000 1.000000 131715 12015 19821 6207 8933 14335 52284 14513 3607 131720 12016 19822 6207 8935 14336 52284 14513 3607 0.658214 0.714547 0.736051 0.643789 0.652266 0.402344 0.675350 0.699511 0.684780 43350 4293 7295 1998 2914 2884 17655 5076 1235 4 0 0 0 0 0 0 0 0 45010 3428 5230 2211 3103 8566 16974 4361 1137 PASS 0 Exomes+Genomes 37 17 54 5831 2929 8760 0.00630539 0.00577054 0.00612662 0.993695 0.994229 0.993873 16 G 255 Pass 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 0.96666664 . . . 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60 . . UTR_5_PRIME(MODIFIER||||EFHC2|mRNA|CODING|NM_025184|NM_025184.ex.1) 1. 1. 1. 0.99 0.99 0.99 . . . . . . . . . . 1.000 . . . 0.9995 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000183690 EFHC2 EFHC2 ENST00000420999:c.-57_-56insG uc004dgb.4:c.-57_-56insG NM_025184:c.-57_-56insG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397970935 0.043 0.072 . . . . . . . . . . . . . . . . . . . . . 0.999430 . . . . . 0.9998 1.0000 0.9999 1 0.9999 1 1 1 0.9999 1 1.0000 1 1 0.9990 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs5902346 rs5902346 rs5902346 1 1538 255 1.I 0,0,255 +. X 47039112 A G - RBM10 9896 RNA binding motif protein 10 NM_001204468.1 1 3433 2988 NP_001191397.1 substitution intron GRCh37 47039112 47039112 ChrX(GRCh37):g.47039112A>G 1097-167 1097-167 NM_001204468.1:c.1097-167A>G p.? p.? 10 9 300080 -167 3' 75.6842 7.95563 0.429543 VII.83 75.6842 7.95563 0.429543 VII.83 0 rs981741025 no no 0 A 0.000000 0 0.000096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000199 0.000000 0.000000 0.000199 2 0 0 0 0 0 2 0 0 20873 5687 616 178 988 0 10064 2640 700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 PASS 43 Genomes transition A G A>G 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.4861111 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000182872 RBM10 RBM10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.582e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs73201999 X 47103049 C T - USP11 12609 Ubiquitin specific peptidase 11 NM_004651.3 1 3290 2892 NP_004642.2 P51784 substitution intron GRCh37 47103049 47103049 ChrX(GRCh37):g.47103049C>T 1919+48 1919+48 NM_004651.3:c.1919+48C>T p.? p.? 13 13 300050 48 5' 78.1779 9.63223 0.977235 X.47 78.1779 9.63223 0.977235 X.36 0 Cryptic Acceptor Strongly Activated 47103065 3.85225 0.001691 67.4565 4.36046 0.00231 67.4565 rs73201999 yes no Frequency/1000G 2 C 0.000000 0 0.001589 0.002000 0.000000 0.000000 0.003900 0.001900 0.005315 0.004594 0.001411 0.003667 0.000000 0.000653 0.009852 0.001338 0.003922 0.009852 880 74 34 23 0 10 701 22 16 165574 16109 24095 6272 12110 15315 71154 16439 4080 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 2 0 0 0 0 0 2 0 0 635 0 0 0 0 0 0 0 0 241 15 8 7 0 7 195 6 3 PASS 0 Exomes+Genomes 6650 3807 10457 60 15 75 0.00894188 0.00392465 0.00712115 0.00894188 0.00392465 0.00712115 15 transition C T C>T 0.000 0.528 255 PASS 0.01 0.0024 . . 0.0034 0.0015 0.0016 0.0014 . 0.003 . . . . . . 0.5411765 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . INTRON(MODIFIER||||USP11|mRNA|CODING|NM_004651|) 0.0039 0.0071 0.0089 0.0039 0.0071 0.0089 . . . . . . . . . . 5.612e-03 . . . 0.0040 0.0049 0.0011 0 0.0025 0.0091 0 0.0003 0.0037 0.0058 0.0010 0 0.0016 0.0105 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.41 0.1 182 ENSG00000102226 USP11 USP11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73201999 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.007121 . . . . II.46 0.0043 0.0053 0.0014 0.0038 0 0.0015 0.0101 0.0036 0.0007 0.0051 0.0056 0 0 0 0.0008 0.0082 0.0056 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs73201999 rs73201999 rs73201999 1 1538 10 1/0 0,255,255 +. X 48319348 A C - SLC38A5 18070 Solute carrier family 38, member 5 NM_033518.3 -1 1996 1419 NP_277053.2 Q8WUX1 substitution intron GRCh37 48319348 48319348 ChrX(GRCh37):g.48319348A>C 952+24 952+24 NM_033518.3:c.952+24T>G p.? p.? 13 13 300649 24 5' 74.2807 8.34018 0.887644 9.74367 74.2807 8.34018 0.887644 10.0184 0 0.000037 0.000000 0.000117 0.000000 0.000000 0.000000 0.000033 0.000080 0.000000 0.000117 5 0 2 0 0 0 2 1 0 135040 12719 17153 5272 9919 13665 60597 12461 3254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion T G T>G 0.000 0.125 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||SLC38A5|mRNA|CODING|NM_033518|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000017483 SLC38A5 SLC38A5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.19e-05 0.0001 0 0 9.104e-05 3.803e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +rs201793746 X 48925533 G A - CCDC120 28910 Coiled-coil domain containing 120 NM_001163321.2 1 3620 2091 NP_001156793.2 substitution missense exon GRCh37 48925533 48925533 ChrX(GRCh37):g.48925533G>A 1883 1883 NM_001163321.2:c.1883G>A p.Arg628His p.Arg628His 10 300947 -94 5' 84.8076 9.98517 0.906579 8.47165 84.8076 9.98517 0.906579 8.47165 0 rs201793746 yes no Frequency/1000G 2 G 0.000000 0 0.000265 0.000000 0.000000 0.000000 0.001300 0.000000 0.002368 0.000439 0.000105 0.000682 0.000000 0.000147 0.005091 0.002236 0.002649 0.005091 289 5 2 4 0 2 236 31 9 122034 11402 19094 5865 8443 13610 46357 13866 3397 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000043 0.000000 0.000000 1 0 0 0 0 0 1 0 0 201 0 0 0 0 0 0 0 0 86 2 1 2 0 2 68 10 1 PASS 0 Exomes+Genomes transition G A G>A 1.000 1.013 R Arg CGC 0.190 H His CAC 0.587 628 12 8 Dog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.09 III.76 255 PASS . . . . . . 0.0003 . . 0.001 . . . . . . 0.509434 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.370 . @ . . . . . 1 0.990 . . 53.0 . . . . . . . . . . . . . . . . . . . 1.451e-03 . . . 0.0011 0.0031 0 0 0 0.0061 0.0132 0 0.0015 0.0012 0 0 0 0.0030 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.407 0.0003 . . . 0.4 0.44 182 ENSG00000147144 CCDC120 CCDC120 . . . 0.993 0.331 . . . . . . . Uncertain_significance . 0 . 0.370 . . . . . . . . . 37 . 0.543 . . 0.649 . . . 0.380 0.339 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.764 . . 0.759 . . . . . . 1 0.682 . . . . . 0.401 . 0.567 . HET 0.01 . . . . . . . . . . . . . IX.36 3.84E-4 . IV.53 III.64 . 0.030000 . . . . . . 0.250 . . III.64 0.0007 0.0019 0.0001 0.0007 0 0.0023 0.0041 0.0022 0.0001 0.0002 0.0045 0 0 0 0.0019 0.0084 0.0042 . . . . 1.987 1.987000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 0.991 . 0.438 . 0.412 1.987 0.069 . . . rs201793746 rs201793746 1 1538 10 1/0 0,255,255 +rs141228104 X 49214248 T C - GAGE2D 31959 G antigen 2D NM_001098407.1 1 561 351 NP_001091877.1 Q9UEU5 substitution intron GRCh37 49214248 49214248 ChrX(GRCh37):g.49214248T>C 329-56 329-56 NM_001098407.1:c.329-56T>C p.? p.? 5 4 300735 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49214250 -24.7594 rs141228104 no no 0 T 0.000000 0 0.009709 0.000000 0.000000 0.000000 0.000000 0.000000 0.006579 0.047619 0.000000 0.047619 2 0 0 0 0 0 1 1 0 206 15 0 0 13 0 152 21 5 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 326 Genomes transition T C T>C 0.028 0.367 240 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.29 182 ENSG00000240257 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141228104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0097 . . 0 0.0476 0.0066 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs141228104 rs141228104 1 1538 10 1/0 0,248,255 +. X 49223771 T C - GAGE12I 4105 G antigen 12I NM_001477.1 1 502 354 NP_001468.1 O76087 substitution intron GRCh37 49223771 49223771 ChrX(GRCh37):g.49223771T>C 332-56 332-56 NM_001477.1:c.332-56T>C p.? p.? 5 4 300637 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49223773 -24.7594 transition T C T>C 0.020 0.448 233 PASS . . . . . . . . . . . . . . . . 0.25274727 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000241465 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. X 49223771 T C - GAGE4 4101 G antigen 4 NM_001474.1 1 527 354 NP_001465.1 A6NER3 substitution intron GRCh37 49223771 49223771 ChrX(GRCh37):g.49223771T>C 332-56 332-56 NM_001474.1:c.332-56T>C p.? p.? 5 4 300597 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49223773 -24.7594 transition T C T>C 0.020 0.448 233 PASS . . . . . . . . . . . . . . . . 0.25274727 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000241465 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. X 49223771 T C - GAGE5 4102 G antigen 5 NM_001475.1 1 522 354 NP_001466.1 Q13069 substitution intron GRCh37 49223771 49223771 ChrX(GRCh37):g.49223771T>C 332-56 332-56 NM_001475.1:c.332-56T>C p.? p.? 5 4 300598 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49223773 -24.7594 transition T C T>C 0.020 0.448 233 PASS . . . . . . . . . . . . . . . . 0.25274727 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000241465 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. X 49223771 T C - GAGE7 4104 G antigen 7 NM_021123.3 1 524 354 NP_066946.1 O76087 substitution intron GRCh37 49223771 49223771 ChrX(GRCh37):g.49223771T>C 332-56 332-56 NM_021123.3:c.332-56T>C p.? p.? 5 4 300601 -56 3' 96.697 XII.78 0.990706 7.54309 96.697 XII.78 0.990706 7.42844 0 49223773 -24.7594 transition T C T>C 0.020 0.448 233 PASS . . . . . . . . . . . . . . . . 0.25274727 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000241465 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs146233104 X 49233309 T C - GAGE2C 31958 G antigen 2C NM_001472.2 1 538 351 NP_001463.1 Q13066 substitution intron GRCh37 49233309 49233309 ChrX(GRCh37):g.49233309T>C 329-56 329-56 NM_001472.2:c.329-56T>C p.? p.? 5 4 300595 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49233311 -24.7594 rs146233104 no no 0 T 0.000000 0 transition T C T>C 0.008 -1.732 237 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.33 182 ENSG00000236249 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146233104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs146233104 rs146233104 1 1538 10 1/0 0,245,255 +. X 49242844 T C - GAGE2B 31957 G antigen 2B NM_001098411.3 1 509 351 NP_001091881.1 Q13066 substitution intron GRCh37 49242844 49242844 ChrX(GRCh37):g.49242844T>C 329-56 329-56 NM_001098411.3:c.329-56T>C p.? p.? 5 4 300726 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49242846 -24.7594 transition T C T>C 0.004 0.528 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000231850 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17355429 X 52734233 C T - SSX2 11336 Synovial sarcoma, X breakpoint 2 NM_003147.5 -1 1476 672 NP_003138.3 substitution synonymous exon GRCh37 52734233 52734233 ChrX(GRCh37):g.52734233C>T 129 129 NM_003147.5:c.129G>A p.Ser43= p.Ser43Ser 3 300192 -56 5' 77.8471 6.24963 0.816611 0 77.8471 6.24963 0.816611 0 0 Krueppel-associated box Krueppel-associated box-related rs17355429 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.000 -1.651 S Ser TCG 0.056 S Ser TCA 0.148 43 255 PASS . . . . . . . . . . . . . . . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.29 182 ENSG00000241476 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs17355429 rs17355429 rs17355429 rs17355429 1 1538 10 1/0 0,255,255 +rs17355429 X 52734233 C T - SSX2B 22263 Synovial sarcoma, X breakpoint 2B NM_001278701.1 -1 1475 672 NP_001265630.1 substitution synonymous exon GRCh37 52734233 52734233 ChrX(GRCh37):g.52734233C>T 129 129 NM_001278701.1:c.129G>A p.Ser43= p.Ser43Ser 3 -56 5' 77.8471 6.24963 0.816611 0 77.8471 6.24963 0.816611 0 0 rs17355429 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.000 -1.651 S Ser TCG 0.056 S Ser TCA 0.148 43 255 PASS . . . . . . . . . . . . . . . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.29 182 ENSG00000241476 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs17355429 rs17355429 rs17355429 rs17355429 1 1538 10 1/0 0,255,255 +. (chrX:52782324 G/A) X 52782324 G A Not on a known gene +. (chrX:52936719 C/T) X 52936719 C T Not on a known gene +rs201230195 X 52977330 G A - FAM156A 30114 Family with sequence similarity 156, member A NM_001242489.1 -1 2102 642 NP_001229418.1 Q8NDB6 substitution missense exon GRCh37 52977330 52977330 ChrX(GRCh37):g.52977330G>A 467 467 NM_001242489.1:c.467C>T p.Thr156Met p.Thr156Met 3 584 3' 79.7622 7.06726 0.499243 4.25896 79.7622 7.06726 0.499243 4.25896 0 Cryptic Acceptor Strongly Activated 52977331 0.000404 70.0796 0.41391 0.00158 70.0796 rs201230195 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.008 1.577 T Thr ACG 0.116 M Met ATG 1.000 156 11 10 Cat -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 81.04 0.00 Tolerated 0.2 III.76 231 PASS 0.01 0.01 0.0036 0.01 0.02 . . . . . . . . . . . 0.24561404 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.263 . @ . . . . . 1 0.582 . . 228.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.313 @ . . . 0.51 0.45 182 ENSG00000182646 FAM156A . . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.836 0.155 . . 37 . 0.125 . . 0.117 . . . 0.271 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.306 . 0.431 . HET 0.4 rs201230195 . . . . . . . 0.012055455093429777 0.008130081300813009 0.0027624309392265192 0.005244755244755245 0.01856763925729443 VIII.73 . . II.75 II.75 . 0.460000 . . . . . . 0.042 . . II.75 . . . . . . . . . . . . . . . . . . . . . 1.658 1.658000 . . 0.460000 . . 1.0E-231 0.005 0.169 . 0.529 0.926 . 0.172 . 0.302 1.658 0.345 0.02 . . rs201230195 rs201230195 1 1538 10 1/0 0,204,255 +rs201230195 X 52977330 G A - FAM156B 31962 Family with sequence similarity 156, member B NM_001099684.1 -1 1701 642 NP_001093154.1 Q8NDB6 substitution missense exon GRCh37 52977330 52977330 ChrX(GRCh37):g.52977330G>A 467 467 NM_001099684.1:c.467C>T p.Thr156Met p.Thr156Met 3 584 3' 79.7622 7.06726 0.499243 4.25896 79.7622 7.06726 0.499243 4.25896 0 Cryptic Acceptor Strongly Activated 52977331 0.000404 70.0796 0.41391 0.00158 70.0796 rs201230195 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.008 1.577 T Thr ACG 0.116 M Met ATG 1.000 156 11 10 Cat -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 81.04 0.00 Tolerated 0.19 III.69 good 5.154E-2 0.001671 231 PASS 0.01 0.01 0.0036 0.01 0.02 . . . . . . . . . . . 0.24561404 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.263 . @ . . . . . 1 0.582 . . 228.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.313 @ . . . 0.51 0.45 182 ENSG00000182646 FAM156A . . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.836 0.155 . . 37 . 0.125 . . 0.117 . . . 0.271 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.306 . 0.431 . HET 0.4 rs201230195 . . . . . . . 0.012055455093429777 0.008130081300813009 0.0027624309392265192 0.005244755244755245 0.01856763925729443 VIII.73 . . II.75 II.75 . 0.460000 . . . . . . 0.042 . . II.75 . . . . . . . . . . . . . . . . . . . . . 1.658 1.658000 . . 0.460000 . . 1.0E-231 0.005 0.169 . 0.529 0.926 . 0.172 . 0.302 1.658 0.345 0.02 . . rs201230195 rs201230195 1 1538 10 1/0 0,204,255 +rs148627371 X 53573366 G A - HUWE1 30892 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase NM_031407.6 -1 14741 13125 NP_113584.3 Q7Z6Z7 substitution intron GRCh37 53573366 53573366 ChrX(GRCh37):g.53573366G>A 10915+31 10915+31 NM_031407.6:c.10915+31C>T p.? p.? 70 70 300697 31 5' 78.1503 6.84436 0.382819 2.59044 78.1503 6.84436 0.382819 II.12 0 Cryptic Acceptor Strongly Activated 53573348 3.90354 0.461729 4.46282 0.559716 rs148627371 yes no Frequency/1000G 2 G 0.000000 0 0.001854 0.000000 0.000000 0.000000 0.006500 0.003800 0.006764 0.001936 0.001732 0.000848 0.000000 0.000182 0.012111 0.008496 0.006911 0.012111 1195 32 44 6 0 3 932 148 30 176669 16532 25410 7072 12462 16480 76953 17419 4341 0.000079 0.000000 0.000000 0.000000 0.000000 0.000000 0.000104 0.000230 0.000461 7 0 0 0 0 0 4 2 1 840 0 0 0 0 0 0 0 0 341 7 12 2 0 2 273 37 8 PASS 0 Exomes+Genomes 6639 3824 10463 88 11 99 0.0130816 0.00286832 0.00937322 0.0130816 0.00286832 0.00937322 29 transition C T C>T 0.000 -0.440 255 PASS . 0.003 0.0036 . 0.01 . 0.0019 0.0029 . 0.005 . . . . . . 0.51785713 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||HUWE1|mRNA|CODING|NM_031407|) 0.0029 0.0094 0.013 0.0029 0.0094 0.013 . . . . . . . . . . 6.704e-03 . . . 0.0031 0.0078 0.0021 0 0.0160 0.0148 0.0035 0.0002 0.0030 0.0100 0.0017 0 0.0151 0.0189 0.0045 0.0002 . . . . . . intronic intronic intronic . . . 0.0019 . . . 0.45 0.16 182 ENSG00000086758 HUWE1 HUWE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.009373 . . . . . 0.0019 0.0065 0.0017 0.0007 0 0.0085 0.0119 0.0058 0.0002 0.0020 0.0087 0.0048 0.0054 0 0.0087 0.0134 0.0125 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.013 . . rs148627371 rs148627371 1 1538 10 1/0 0,255,255 +rs201805112 X 55102975 T A - PAGE2B 31805 P antigen family, member 2B NM_001015038.2 1 508 336 NP_001015038.1 Q5JRK9 substitution intron GRCh37 55102975 55102975 ChrX(GRCh37):g.55102975T>A 85-27 85-27 NM_001015038.2:c.85-27T>A p.? p.? 3 2 -27 3' 74.4961 7.08116 0.809601 5.77639 74.4961 7.08116 0.809601 5.52377 0 rs201805112 yes no Frequency/1000G 2 T 0.000000 0 0.000530 0.000000 0.000000 0.000000 0.002600 0.000000 0.000572 0.000072 0.000000 0.000000 0.000093 0.000245 0.001186 0.000125 0.000269 0.001186 83 1 0 0 1 3 75 2 1 145042 13886 19579 5665 10770 12223 63237 15959 3723 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 0 0 0 0 0 0 0 0 32 1 0 0 0 2 29 0 0 PASS 0 Exomes+Genomes 6676 3826 10502 10 0 10 0.00149566 0 0.000951294 0.00149566 0 0.000951294 17 transversion T A T>A 0.000 -1.086 255 PASS . 0.0012 . . 0.0034 . 0.0005 . . 0.002 . . . . . . 0.5 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . INTRON(MODIFIER||||PAGE2B|mRNA|CODING|NM_001015038|) . 0.001 0.0015 . 0.001 0.0015 . . . . . . . . . . 5.803e-04 . . . 0 0.0008 0 0.0007 0 0.0014 0.0060 0 0 0.0008 0 0.0007 0 0.0015 0.0089 0 . . . . . . intronic intronic intronic . . . 0.0005 . . . 0.25 0.16 182 ENSG00000238269 PAGE2B PAGE2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201805112 . . . . . . . . . . . . . . . . . . . . . . . 0.000951 . . . . . 0.0001 0.0005 0 0 0.0001 0.0001 0.0012 0 0.0002 0 0.0007 0 0 0 0 0.0014 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0034 . . rs201805112 rs201805112 1 1538 10 1/0 0,255,255 +. X 55172521 G T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution intron GRCh37 55172521 55172521 ChrX(GRCh37):g.55172521G>T 254+93 254+93 NM_001166699.1:c.254+93C>A p.? p.? 3 3 93 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 2.0909 0 rs908148278 no no 0 G 0.000000 0 transversion C A C>A 0.004 1.013 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.112 . . 144.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.547 . . exonic exonic exonic . . 0.226 @ . . . . . . ENSG00000182518 FAM104B FAM104B . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.350 0.015 . . 37 . 0.303 . . 0.179 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.757 . . 0 0 0 0 0 0 . 0.414 . . 0.319 . . . . . . 3 0.682 . . . . . 0.191 . 0.160 . LowAF . . . . . . . . . . . . . . 6.0913 . . 1.VI 1.VI . 0.000000 Q5XKR9-3 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . . . 1.084 1.084000 . . 0.000000 . . 1.0E-176 0.989 0.365 . 0.122 0.985 . 0.394 . 0.302 1.084 0.697 . . . . . 1 1538 10 1/0 0,211,255 +rs1047054 X 55172537 G A - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution intron GRCh37 55172537 55172537 ChrX(GRCh37):g.55172537G>A 254+77 254+77 NM_001166699.1:c.254+77C>T p.? p.? 3 3 77 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 2.39526 0 Cryptic Donor Strongly Activated 55172539 53.8177 2.18848 0.044978 66.5139 rs1047054 yes no Frequency 1 G 0.000000 0 0.000029 0.000176 0.000000 0.000000 0.000000 0.000054 0.000026 0.000000 0.000000 0.000176 5 2 0 0 0 1 2 0 0 171058 11396 26023 7175 12608 18601 76753 14555 3947 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 81 Exomes transition C T C>T 0.154 0.125 255 PASS . . . . . . . . . . . . . . . . 0.8 . . @ 140 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.961 . @ . . . . . 0 0.214 . . 175.0 . . . . . . . . . . . . . . . . . . . 3.237e-03 . . . 0.0042 0.0006 0 0 0.0005 0.0001 0 0.0001 0.0045 0.0004 0 0 0.0002 0 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.168 @ . . . 0.46 0.51 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.248 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.112 . . . HOM . rs1047054 . . . . . . . . . . . . IV.36 . . I.59 0.637 . 1.000000 . . . . . . 0.219 . . . 0.0002 2.923e-05 0 0 0 0 2.606e-05 0 5.376e-05 . . . . . . . . . . . . 0.126 0.126000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.227 0.992 . 0.325 . 0.302 0.126 0.697 . rs1047054 rs1047054 rs1047054 rs1047054 1 1538 10 1/0 0,225,219 +rs111573608 X 55172572 G A - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution intron GRCh37 55172572 55172572 ChrX(GRCh37):g.55172572G>A 254+42 254+42 NM_001166699.1:c.254+42C>T p.? p.? 3 3 42 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 1.94437 0 Cryptic Acceptor Strongly Activated 55172573 6.29209 0.018586 70.9446 7.02018 0.06716 70.9446 rs111573608 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 176195 12187 26392 7257 12800 18929 78783 15834 4013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 87 Exomes transition C T C>T 0.031 -1.328 230 PASS . . . . . . . . . . . . . . . . 0.26431718 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.053 . . 227.0 . . . . . . . . . . . . . . . . . . . 9.787e-04 . . . 0 1.586e-05 0 0 0 3.46e-05 0 0 0 1.354e-05 0 0 0 2.676e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.374 . . exonic exonic exonic . . 0.048 @ . . . 0.43 0.51 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.033 0.002 . . 37 . 0.133 . . 0.313 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.010 . . . . . 0.203 . 0.028 . HET . rs111573608 . . . . . . . . . . . . VI.36 . . 1.VI -3.2 . 1.000000 Q5XKR9-3 . . . . . 0.044 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -1.373 -1.373000 . . 1.000000 . . 1.0E-230 0.987 0.361 . 0.337 0.988 . 0.153 . 0.012 -1.373 -0.084 . . . rs111573608 rs111573608 1 1538 10 1/0 0,206,255 +rs113745415 X 55172606 G A - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution intron GRCh37 55172606 55172606 ChrX(GRCh37):g.55172606G>A 254+8 254+8 NM_001166699.1:c.254+8C>T p.? p.? 3 3 8 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.986904 1.62578 -0.0014571 Cryptic Acceptor Strongly Activated 55172596 0.420653 0.0001 67.7234 1.61022 0.000214 71.0061 rs113745415 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 178075 12235 26554 7282 12859 19098 79819 16180 4048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 90 Exomes COSM4156930|COSM4156930 Thyroid|Large intestine 0.002677|0.005379 747|2231 transition C T C>T 0.000 0.125 236 PASS . . . . . . . . . . . . . . . . 0.2591241 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.226 . @ . . . . . 1 0.571 . . 274.0 . . . . . . . . . . . . . . . . . . . 2.526e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.168 @ . . . 0.43 0.5 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.095 0.004 . . 37 . 0.197 . . 0.158 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.093 . . 0 0 0 0 0 0 . 0.258 . . 0.154 . . . . . . 3 0.440 . . . . . 0.113 . 0.024 . HET . rs113745415 . . . . . . . . . . . . IV.67 . . 1.VI 0.635 . 0.060000 Q5XKR9-3 . . . . . 0.214 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . 0.130 0.130000 . . 0.060000 . . 1.0E-236 0.999 0.424 . 0.157 0.530 . 0.281 . 0.302 0.130 0.697 . . . rs113745415 rs113745415 1 1538 10 1/0 0,197,255 +rs1047042 X 55172645 C T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172645 55172645 ChrX(GRCh37):g.55172645C>T 223 223 NM_001166699.1:c.223G>A p.Asp75Asn p.Asp75Asn 3 -32 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 1.49878 0 rs1047042 yes no Frequency/1000G 2 C 0.000000 0 0.001324 0.004000 0.000000 0.000000 0.001300 0.000000 0.000011 0.000088 0.000000 0.000139 0.000000 0.000000 0.000000 0.000000 0.000000 0.000139 2 1 0 1 0 0 0 0 0 174126 11397 26133 7196 12318 18299 78798 15997 3988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 104 Exomes COSM4156934|COSM4156934 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000567 747|3530 transition G A G>A 0.000 -0.360 D Asp GAT 0.461 N Asn AAT 0.464 75 10 2 Chimp 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 66.42 0.00 Tolerated 1 III.34 good 9.641E-1 0.0142 255 PASS . . . . . 0.003 0.0013 . . 0.001 . . . . . . 0.72425246 . . @ 218 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.003 . . 301.0 . . . . . . . . . . . . . . . . . . . 2.107e-03 . . . 0.0014 0.0002 0 0 0 3.4e-05 0 0 0.0016 0.0002 0 0 0 2.642e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.402 . . exonic exonic exonic . . 0.095 0.0013 . . . 0.42 0.59 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.174 . . . . T 0.066 0.003 . . 37 . 0.152 . . 0.157 . . . 0.026 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 0 0.045 . . . . . 0.100 . 0.007 . HET 0.81 rs1047042 0.098 0.109 . . . . . . . . . . IV.47 . . I.59 -1.04 . 0.400000 . . . . . . 0.007 . . . 8.774e-05 1.149e-05 0 0.0001 0 0 0 0 0 . . . . . . . . . . . . -0.355 -0.355000 . . 0.400000 . . 1.0E-255 0.003 0.159 . 0.016 0.001 . 0.141 . 0.039 -0.355 -1.026 0.098 rs1047042 rs1047042 rs1047042 rs1047042 1 1538 10 1/0 0,215,212 +rs751109928 X 55172675 C T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172675 55172675 ChrX(GRCh37):g.55172675C>T 193 193 NM_001166699.1:c.193G>A p.Gly65Ser p.Gly65Ser 3 -62 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 2.19458 0 rs751109928 yes no Frequency 1 C 0.000000 0 0.000006 0.000000 0.000000 0.000000 0.000000 0.000052 0.000000 0.000000 0.000000 0.000052 1 0 0 0 0 1 0 0 0 178666 12245 26574 7292 12869 19143 80104 16383 4056 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes COSM4156936|COSM4156936 Thyroid|Large intestine 0.002677|0.002241 747|2231 transition G A G>A 0.016 0.044 G Gly GGC 0.342 S Ser AGC 0.243 65 10 3 Macaque 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 106.21 0.00 Tolerated 0.94 III.34 good 9.977E-1 0.04414 178 PASS . . . . . . . . . . . . . . . . 0.10828026 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.102 . . 314.0 . . . . . . . . . . . . . . . . . . . 7.893e-06 . . . 0 1.537e-05 0 0 0 0 0 9.887e-05 0 1.316e-05 0 0 0 0 0 9.958e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.398 . . exonic exonic exonic . . 0.157 @ . . . 0.44 0.6 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.171 . . . . T 0.151 0.006 . . 37 . 0.299 . . 0.270 . . . 0.030 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.604 . . 0.754 . . . . . . 0 0.087 . . . . . 0.055 . 0.097 . LowAF 0.36 rs751109928 . . . . . . . . . . . . II.45 . . 1.VI 0.436 . 0.760000 . . . . . . 0.049 . . . 0 5.597e-06 0 0 0 0 0 0 5.224e-05 . . . . . . . . . . . . 0.049 0.049000 . . 0.760000 . . 1.0E-178 0.980 0.350 . 0.254 0.518 . 0.247 . 0.111 0.049 -0.334 . rs5010975 rs5010975 rs5010975 rs5010975 1 1538 10 1/0 0,178,255 +rs111638770 X 55172680 G C - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172680 55172680 ChrX(GRCh37):g.55172680G>C 188 188 NM_001166699.1:c.188C>G p.Pro63Arg p.Pro63Arg 3 65 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.65 0 rs111638770 no no 0 G 0.000000 0 COSM5461082 Large intestine 0.001345 2231 transversion C G C>G 0.039 1.013 P Pro CCA 0.274 R Arg CGA 0.110 63 10 8 Platypus -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 97.59 39.51 Deleterious 0.04 III.34 bad 5.879E-5 0.006506 231 PASS . . . . . . . . . . . . . . . . 0.24429968 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.457 . @ . . . . . 1 0.723 . . 307.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.558 . . exonic exonic exonic . . 0.226 @ . . . 0.43 0.62 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.171 . . . . T 0.323 0.013 . . 37 . 0.574 . . 0.399 . . . 0.469 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.919 . . 0 0 0 0 0 0 . 0.764 . . 0.782 . . . . . . 0 0.784 . . . . . 0.191 . 0.480 . HET 0 rs111638770 . . . . . . . . . . . . 6.0913 . . 1.VI 1.VI . 0.000000 . . . . . . 0.264 . . . . . . . . . . . . . . . . . . . . . . . . 1.084 1.084000 . . 0.000000 . . 1.0E-231 0.999 0.424 . 0.246 0.417 . 0.425 . 0.302 1.084 -0.287 . . . rs111638770 rs111638770 1 1538 10 1/0 0,191,255 +rs796781627 X 55172686 C T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172686 55172686 ChrX(GRCh37):g.55172686C>T 182 182 NM_001166699.1:c.182G>A p.Ser61Asn p.Ser61Asn 3 59 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.56 0 rs796781627 no no 0 C 0.000000 0 COSM5452364 Large intestine 0.001793 2231 transition G A G>A 0.000 -0.279 S Ser AGT 0.149 N Asn AAT 0.464 61 10 8 Chicken 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 55.27 45.82 Tolerated 0.08 III.34 bad 5.727E-3 0.001233 219 PASS . . . . . . . . . . . . . . . . 0.20875421 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.143 . . 297.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.529 . . exonic exonic exonic . . 0.117 @ . . . . . . ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.266 . . . . T 0.089 0.004 . . 37 . 0.317 . . 0.157 . . . 0.479 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.359 . . . . . 0.034 . 0.020 . HET 0.06 . . . . . . . . . . . . . 2.1072 . . 1.VI -0.424 . 0.120000 . . . . . . 0.045 . . . . . . . . . . . . . . . . . . . . . . . . -0.249 -0.249000 . . 0.120000 . . 1.0E-219 0.004 0.165 . 0.210 0.426 . 0.239 . 0.108 -0.249 0.666 . . . . . 1 1538 10 1/0 0,189,255 +rs1047037 X 55172687 T C - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172687 55172687 ChrX(GRCh37):g.55172687T>C 181 181 NM_001166699.1:c.181A>G p.Ser61Gly p.Ser61Gly 3 58 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.71 0 Cryptic Donor Strongly Activated 55172687 0.002094 55.4909 3.09325 0.086316 67.6269 rs1047037 yes no Frequency 1 T 0.000000 0 COSM6277745 Liver 0.000844 2371 transition A G A>G 0.000 -0.360 S Ser AGT 0.149 G Gly GGT 0.162 61 10 8 Chicken 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 55.27 0.00 Tolerated 0.34 III.34 good 5.384E-1 0.001233 255 PASS . . . . . . . . . . . . . . . . 0.6904762 . . @ 203 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.177 . . 294.0 . . . . . . . . . . . . . . . . . . . 3.946e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.533 . . exonic exonic exonic . . 0.099 @ . . . 0.45 0.65 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.266 . . . . T 0.100 0.004 . . 37 . 0.326 . . 0.155 . . . 0.290 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.659 . . 0 0 0 0 0 0 . 0.274 . . 0.255 . . . . . . 0 0.531 . . . . . 0.098 . 0.058 . HET 0.15 rs1047037 0.250 0.246 . . . . . . . . . . 4.198 . . I.59 -0.917 . 0.090000 . . . . . . 0.040 . . . . . . . . . . . . . . . . . . . . . . . . -0.353 -0.353000 . . 0.090000 . . 1.0E-255 0.001 0.137 . 0.208 0.441 . 0.195 . 0.119 -0.353 -0.247 0.25 rs1047037 rs1047037 rs1047037 rs1047037 1 1538 10 1/0 0,223,223 +rs797005327 X 55172689 G T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172689 55172689 ChrX(GRCh37):g.55172689G>T 179 179 NM_001166699.1:c.179C>A p.Ala60Glu p.Ala60Glu 3 56 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.65 0 rs797005327 no no 0 G 0.000000 0 COSM5764797|COSM5764797 Liver|Large intestine 0.000422|0.000896 2371|2231 transversion C A C>A 0.000 -0.279 A Ala GCA 0.226 E Glu GAA 0.417 60 10 8 Chicken -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 103.39 72.02 Deleterious 0.01 III.34 bad 5.44E-6 0.001201 221 PASS . . . . . . . . . . . . . . . . 0.21548821 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.027 . . 297.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.475 . . exonic exonic exonic . . 0.111 @ . . . . . . ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.222 . . . . T 0.108 0.004 . . 37 . 0.308 . . 0.144 . . . 0.326 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.511 . . 0 0 0 0 0 0 . 0.402 . . 0.428 . . . . . . 0 0.282 . . . . . 0.044 . 0.266 . HET 0.26 . . . . . . . . . . . . . II.25 . . 1.VI -0.582 . 0.330000 . . . . . . 0.041 . . . . . . . . . . . . . . . . . . . . . . . . -0.288 -0.288000 . . 0.330000 . . 1.0E-221 0.000 0.063 . 0.205 0.496 . 0.071 . 0.116 -0.288 -0.289 . . . . . 1 1538 10 1/0 0,190,255 +rs1047034 X 55172708 T G - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172708 55172708 ChrX(GRCh37):g.55172708T>G 160 160 NM_001166699.1:c.160A>C p.Ile54Leu p.Ile54Leu 3 37 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.78 0 Cryptic Acceptor Strongly Activated 55172695 2.1319 0.006342 77.5913 3.61457 0.022511 80.2843 rs1047034 yes no Frequency 1 T 0.000000 0 0.000006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000012 0.000000 0.000000 0.000012 1 0 0 0 0 0 1 0 0 178494 12242 26575 7294 12868 19139 80092 16230 4054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 90 Exomes COSM4156938|COSM4156938 Thyroid|Liver 0.001339|0.000422 747|2371 transversion A C A>C 0.000 -0.440 I Ile ATT 0.356 L Leu CTT 0.129 54 10 10 Chicken 2 2 2 0 0 5.II 4.IX 111 111 5 C0 0.00 IV.86 Deleterious 0 III.34 bad 8.214E-3 0.0003309 255 PASS . . . . . . . . . . . . . . . . 0.6725979 . . @ 189 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.175 . @ . . . . . 1 0.135 . . 281.0 . . . . . . . . . . . . . . . . . . . 3.157e-05 . . . 0 0 0 0 0 0 0 0 0 1.317e-05 0 0 0 2.602e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.592 . . exonic exonic exonic . . 0.088 @ . . . 0.5 0.65 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.179 . . . . T 0.300 0.012 . . 37 . 0.487 . . 0.511 . . . 0.530 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.254 . . 0.382 . . . . . . 0 0.912 . . . . . 0.113 . 0.266 . HET 0.08 rs1047034 0.370 0.355 . . . . . . . . . . IV.93 . . I.59 -1.26 . 0.010000 . . . . . . 0.249 . . . 0 5.602e-06 0 0 0 0 1.249e-05 0 0 . . . . . . . . . . . . -0.432 -0.432000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.122 0.991 . 0.257 . 0.118 -0.432 0.755 0.37 rs1047034 rs1047034 rs1047034 rs1047034 1 1538 10 1/0 0,226,229 +rs113840740 X 55185568 A G - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution synonymous exon GRCh37 55185568 55185568 ChrX(GRCh37):g.55185568A>G 114 114 NM_001166699.1:c.114T>C p.Asp38= p.Asp38Asp 2 -10 5' 73.5658 0 0 0 73.5658 0 0 0 0 rs113840740 yes no Frequency 1 0.000000 0 0.000047 0.000000 0.000328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000328 8 0 8 0 0 0 0 0 0 168771 11689 24359 7014 11834 16716 77147 16232 3780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 3 0 3 0 0 0 0 0 0 PASS 69 Exomes COSM4156942|COSM4156942 Thyroid|Liver 0.004016|0.000422 747|2371 transition T C T>C 0.000 -2.297 D Asp GAT 0.461 D Asp GAC 0.539 38 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . . . . . . . . . . 3.946e-05 . . . 0 4.71e-05 0.0003 0 0 0 0 0 0 4.026e-05 0.0003 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.35 182 ENSG00000182518 FAM104B FAM104B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113840740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.74e-05 0.0003 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs113840740 rs113840740 1 1538 10 1/0 0,255,255 +rs867116961 X 55185656 C A - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55185656 55185656 ChrX(GRCh37):g.55185656C>A 26 26 NM_001166699.1:c.26G>T p.Arg9Ile p.Arg9Ile 2 6 3' 90.5122 9.11526 0.808401 6.94192 90.5122 9.11526 0.781049 6.92773 -0.0112782 rs867116961 no no 0 C 0.000000 0 COSM4806091|COSM4806091|COSM4806091 Thyroid|Lung|Liver 0.001339|0.000419|0.000844 747|2389|2371 transversion G T G>T 0.563 1.416 R Arg AGA 0.205 I Ile ATA 0.163 9 10 9 Chicken -3 -3 -5 0.65 0 10.V 5.II 124 111 97 C35 26.00 89.09 Deleterious 0.01 III.34 bad 4.668E-5 0.000186 255 PASS . . . . . . . . . . . . . . . . 0.42957747 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.628 . @ . . . . . 1 0.147 . . 142.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.579 . . exonic exonic exonic . . 0.272 @ . . . 0.53 0.35 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.408 . . . . . . . Uncertain_significance . 0 . 0.360 . . . . T 0.329 0.013 . . 37 . 0.587 . . 0.594 . . . 0.514 0.501 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.949 . . 0 0 0 0 0 0 . 0.764 . . 0.807 . . . . . . 0 0.555 . . . . . 0.257 . 0.697 . HET 0 . . . . . . . . . . . . . VII.91 . . II.25 II.25 . 0.020000 . . . . . . 0.255 . . II.25 . . . . . . . . . . . . . . . . . . . . . 1.426 1.426000 . . 0.020000 . . 1.0E-255 0.910 0.314 . 0.374 0.997 . 0.320 . 0.291 1.426 0.666 . rs5003001 rs5003001 rs5003001 rs5003001 1 1538 10 1/0 0,243,255 +rs201872206 X 57146927 G A - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution missense exon GRCh37 57146927 57146927 ChrX(GRCh37):g.57146927G>A 136 136 NM_001006681.1:c.136C>T p.Arg46Cys p.Arg46Cys 2 300517 138 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.26 0 rs201872206 yes no Frequency 1 0.000000 0 0.000847 0.000358 0.000663 0.000000 0.001373 0.004001 0.000217 0.000850 0.000691 0.004001 41 2 6 0 8 18 4 2 1 48417 5580 9051 1198 5828 4499 18462 2352 1447 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 0 0 0 0 0 0 0 0 3 0 0 0 2 0 1 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 0.125 R Arg CGC 0.190 C Cys TGC 0.552 46 12 8 Horse -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 257.76 0.00 Tolerated 0.07 III.40 good 2.879E-1 0.3982 218 PASS . . . . . . . . . . . . . . . . 0.2055336 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.277 . @ . . . . . 1 0.221 . . 253.0 . . . . . . . . . . . . . . . . . . . 4.457e-04 . . . 0 0.0025 0 0 0 0.0008 0 0.0336 0 0.0059 0 0 0 0.0033 0 0.0360 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.494 . . exonic exonic exonic . . 0.219 @ . . . 0.49 0.26 182 ENSG00000186787 SPIN2B SPIN2B . . . 0.999 0.386 . . . . . . . Likely_benign . 0 . 0.362 . . . . . . . . . 37 . 0.301 . . 0.143 . . . 0.191 0.450 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.657 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 0 0.469 . . . . . 0.046 . 0.460 . HET 0.02 rs201872206 . . . . . . . . . . . . II.85 . . II.37 1.V . 0.020000 Q9BPZ2 . . Name\x3dnsv483129 . . 0.353 . . . 0.0002 0.0009 0.0007 0 0.0012 0.0010 0.0003 0.0008 0.0040 0.0008 0.0005 0 0 0.0066 0.0007 0 0 . . . . 0.460 0.460000 . . 0.020000 . . 1.0E-218 1.000 0.715 . 0.529 0.981 . 0.321 . 0.290 0.460 0.589 . rs2003812 rs2003812 rs2003812 rs2003812 1 1538 10 1/0 0,196,255 +rs200446826 X 57146931 C T - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution synonymous exon GRCh37 57146931 57146931 ChrX(GRCh37):g.57146931C>T 132 132 NM_001006681.1:c.132G>A p.Gln44= p.Gln44Gln 2 300517 134 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.26 0 Cryptic Acceptor Strongly Activated 57146922 4.26431 0.7533 9.71344 0.759369 79.1288 rs200446826 yes no Frequency 1 0.000000 0 0.000725 0.000358 0.000662 0.000000 0.000516 0.003785 0.000218 0.000847 0.000691 0.003785 35 2 6 0 3 17 4 2 1 48306 5592 9059 1199 5809 4492 18347 2360 1448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 RF 0 Exomes+Genomes transition G A G>A 0.992 0.690 Q Gln CAG 0.744 Q Gln CAA 0.256 44 207 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 238.0 . . . . . . . . . . . . . . . . . . . 4.339e-04 . . . 0 0.0021 0 0 0 0.0008 0 0.0256 0 0.0038 0 0 0 0 0 0.0275 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.28 182 ENSG00000186787 SPIN2B SPIN2B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200446826 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv483129 . . . . . . 0.0002 0.0008 0.0007 0 0.0005 0.0010 0.0003 0.0008 0.0038 0.0008 0.0003 0 0 0 0.0007 0 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs2020223 rs2020223 rs2020223 rs200446826 1 1538 10 1/0 0,196,255 +rs201521097 X 57146945 G T - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution synonymous exon GRCh37 57146945 57146945 ChrX(GRCh37):g.57146945G>T 118 118 NM_001006681.1:c.118C>A p.Arg40= p.Arg40Arg 2 300517 120 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.26 0 rs201521097 yes no Frequency 1 0.000000 0 0.000744 0.000376 0.000571 0.000000 0.000177 0.004344 0.000353 0.000000 0.000719 0.004344 34 2 5 0 1 19 6 0 1 45729 5316 8752 1121 5649 4374 16993 2133 1391 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 0 0 0 4 0 1 0 0 1 2 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.520 0.125 R Arg CGA 0.110 R Arg AGA 0.205 40 226 PASS . . . . . . . . . . . . . . . . 0.2300885 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . . . . . . . . . . 4.435e-04 . . . 0 0.0034 0 0 0 0.0030 0 0.0317 0 0.0043 0 0 0 0 0 0.0351 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.35 182 ENSG00000186787 SPIN2B SPIN2B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201521097 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv483129 . . . . . II.37 0.0005 0.0008 0.0006 0 0.0002 0 0.0004 0.0009 0.0043 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . rs4266782 rs4266782 rs4266782 rs201521097 1 1538 10 1/0 0,203,255 +rs756956474 X 57147093 A G - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution intron GRCh37 57147093 57147093 ChrX(GRCh37):g.57147093A>G -31 -31 NM_001006681.1:c.-2-29T>C p.? p.? 2 1 300517 -29 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.86 0 rs756956474 yes no Frequency/1000G 2 0.008212 G 31 0.008212 0.011000 0.008400 0.018300 0.000000 0.000000 0.003337 0.009563 0.001005 0.000000 0.010200 0.007703 0.000064 0.000000 0.000000 0.010200 141 53 7 0 51 29 1 0 0 42258 5542 6968 936 5000 3765 15645 3125 1277 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 0 0 0 0 0 0 0 0 21 6 1 0 14 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.205 228 PASS . . . . . 0.0083 0.0082 . 0.014 . 0.0061 . . . . . 0.23853211 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . . . . . . . . . . 1.247e-03 . . . 0.0364 0.0073 0 0.0556 . 0 0 0 0.0714 0.0625 0 0.1 . 0 . . . . . . . . intronic intronic intronic . . . 0.0082 . . . 0.69 0.38 182 ENSG00000186787 SPIN2B SPIN2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs756956474 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv483129 . . . . . . 0.0106 0.0036 0.0010 0 0.0105 0 0 0 0.0077 0.0073 0.0020 0 0 0.0044 0 0.0003 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.011 . rs73494658 rs73494658 rs73494658 1 1538 10 1/0 0,236,255 +rs778368332 X 57147096 C T - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution intron GRCh37 57147096 57147096 ChrX(GRCh37):g.57147096C>T -34 -34 NM_001006681.1:c.-2-32G>A p.? p.? 2 1 300517 -32 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.24 0 Cryptic Donor Strongly Activated 57147099 3.29818 0.439657 72.3752 7.43136 0.983121 76.7375 rs778368332 yes no Frequency/1000G 2 0.008212 T 31 0.008212 0.011000 0.008400 0.018300 0.000000 0.000000 0.003340 0.009426 0.000877 0.000000 0.010200 0.007775 0.000127 0.000000 0.000769 0.010200 142 53 6 0 51 29 2 0 1 42517 5623 6839 926 5000 3730 15751 3347 1301 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 0 0 0 0 0 0 0 0 21 6 1 0 14 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.005 226 PASS . . . . . 0.0083 0.0082 . 0.014 . 0.0061 . . . . . 0.23148148 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . . . . . . . . . . 1.272e-03 . . . 0.0377 0.0072 0 0.0476 . 0 0 0 0.0833 0.0588 0 0.0833 . 0 . . . . . . . . intronic intronic intronic . . . 0.0082 . . . 0.7 0.38 182 ENSG00000186787 SPIN2B SPIN2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs778368332 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv483129 . . . . . . 0.0107 0.0036 0.0009 0 0.0105 0 0 0 0.0078 0.0069 0.0021 0 0 0.0039 0 0.0006 0.0031 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.011 rs56890705 rs56890705 rs56890705 rs56890705 1 1538 10 1/0 0,235,255 +. X 65247905 T G - VSIG4 17032 V-set and immunoglobulin domain containing 4 NM_007268.2 -1 1852 1200 NP_009199.1 Q9Y279 substitution synonymous exon GRCh37 65247905 65247905 ChrX(GRCh37):g.65247905T>G 744 744 NM_007268.2:c.744A>C p.Thr248= p.Thr248Thr 4 300353 -14 5' 95.331 X.37 0.983575 6.96921 95.331 X.37 0.983575 6.86458 0 Cryptic Acceptor Strongly Activated 65247891 IV.75 0.008975 70.4701 6.03366 0.027544 73.0977 transversion A C A>C 0.000 0.770 T Thr ACA 0.280 T Thr ACC 0.361 248 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000155659 VSIG4 VSIG4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . VII.45 . ENST00000427538 IV.41 III.21 . . . . . . . . . . . III.21 . . . . . . . . . . . . . . . . . . . . . 0.536 0.536000 . . . . . 1.0E-177 . . . . . . . . . 0.536 . . . . . . 1 1538 10 1.I 0,0,0 +. X 65247907 T G - VSIG4 17032 V-set and immunoglobulin domain containing 4 NM_007268.2 -1 1852 1200 NP_009199.1 Q9Y279 substitution missense exon GRCh37 65247907 65247907 ChrX(GRCh37):g.65247907T>G 742 742 NM_007268.2:c.742A>C p.Thr248Pro p.Thr248Pro 4 300353 -16 5' 95.331 X.37 0.983575 6.96921 95.331 X.37 0.983575 6.72785 0 Cryptic Acceptor Weakly Activated 65247891 IV.75 0.008975 70.4701 4.60733 0.023591 70.4701 transversion A C A>C 0.000 -0.198 T Thr ACA 0.280 P Pro CCA 0.274 248 11 2 Chimp -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.18 III.99 unknown 0.0 0.0 175 PASS . . . . . . . . . . . . . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.019 . . 67.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . 0.123 @ . . . . . . ENSG00000155659 VSIG4 VSIG4 . . . 1.000 0.407 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . T 0.047 0.002 . . 37 . 0.334 . . 0.245 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.256 . . . . . 0.439 . 0.560 . LowAF 0.1 . . . . . . . . . . . . . X.34 . . IV.41 -0.264 . 0.260000 . . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . . . -0.017 -0.017000 . . 0.260000 . . 1.0E-175 0.000 0.063 . 0.167 0.007 . 0.058 . 0.035 -0.017 -0.720 . . . . . 1 1538 10 1.I 0,0,0 +. X 70609391 GTTT G - TAF1 11535 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa NM_001286074.1 1 7723 5688 NP_001273003.1 deletion intron GRCh37 70609395 70609397 ChrX(GRCh37):g.70609395_70609397del 2761-40 2761-38 NM_001286074.1:c.2761-40_2761-38del p.? p.? 18 17 313650 -38 3' 91.25 X.98 0.980942 9.09742 91.25 X.98 0.980942 IX.93 0 rs756213103 yes no Frequency/1000G 2 0.000530 - 2 0.000530 0.001000 0.000000 0.000000 0.001300 0.000000 0.000795 0.000289 0.000452 0.000000 0.000000 0.000000 0.001439 0.000163 0.000504 0.001439 137 5 8 0 0 0 119 3 2 172269 17322 17686 6140 11762 14314 82677 18397 3971 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 0 0 0 0 0 0 0 0 50 1 2 0 0 0 47 0 0 PASS 0 Exomes+Genomes 6468 3715 10183 8 5 13 0.00123533 0.00134409 0.00127501 0.00123533 0.00134409 0.00127501 61 TTT 255 Pass . . . . . 0.0008 0.0005 . . 0.001 . . . . . . 0.51724136 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . . 0.0013 0.0013 0.0012 0.0013 0.0013 0.0012 . . . . . . . . . . 6.630e-04 . . . 0.0004 0.0007 0.0005 0 0 0.0012 0 0 0.0004 0.0006 0.0006 0 0 0.0009 0 0 . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000147133 BCYRN1 BCYRN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs756213103 . . . . . . . . . . . . . . . . . . . . . . . 0.001274 . . . . . 0.0003 0.0008 0.0005 0 0 0.0002 0.0015 0.0003 0 0.0003 0.0007 0 0 0 0 0.0012 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . . . 1 1538 10 1.I 0,12,29 +rs6625842 X 70937090 A G - CXorf49 30891 Chromosome X open reading frame 49 NM_001145140.1 -1 1851 1545 NP_001138612.1 substitution synonymous exon GRCh37 70937090 70937090 ChrX(GRCh37):g.70937090A>G 912 912 NM_001145140.1:c.912T>C p.Ala304= p.Ala304Ala 1 -313 5' 83.5016 9.09532 0.98588 X.86 83.5016 9.09532 0.98588 X.86 0 rs6625842 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 -0.924 A Ala GCT 0.263 A Ala GCC 0.403 304 111 PASS . . . . . . . . . . . . CXorf49B:uc011mpy.2:exon1:c.T912C:p.A304A . . . 1.0 . . @ 146 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.66 0.42 182 ENSG00000215115 CXorf49B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs6625842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs6625842 rs6625842 rs6625842 rs6625842 1 1538 255 1.I 0,0,255 +rs6625842 X 70937090 A G - CXorf49B 34229 Chromosome X open reading frame 49B NM_001145139.1 -1 1851 1545 NP_001138611.1 substitution synonymous exon GRCh37 70937090 70937090 ChrX(GRCh37):g.70937090A>G 912 912 NM_001145139.1:c.912T>C p.Ala304= p.Ala304Ala 1 -313 5' 83.5016 9.09532 0.98588 X.86 83.5016 9.09532 0.98588 X.86 0 rs6625842 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 -0.924 A Ala GCT 0.263 A Ala GCC 0.403 304 111 PASS . . . . . . . . . . . . CXorf49B:uc011mpy.2:exon1:c.T912C:p.A304A . . . 1.0 . . @ 146 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.66 0.42 182 ENSG00000215115 CXorf49B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs6625842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs6625842 rs6625842 rs6625842 rs6625842 1 1538 255 1.I 0,0,255 +rs879964120 (chrX:70984185 T/C) X 70984185 T C Not on a known gene +rs188658962 X 71406253 C G - PIN4 8992 Protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) NM_006223.3 1 1324 471 NP_006214.2 substitution intron GRCh37 71406253 71406253 ChrX(GRCh37):g.71406253C>G 119-58 119-58 NM_006223.3:c.119-58C>G p.? p.? 2 1 300252 -58 3' 84.1441 7.60544 0.965434 6.88619 84.1441 7.60544 0.965434 6.97274 0 rs188658962 yes no Frequency/1000G 2 C 0.000000 0 0.001589 0.000000 0.001400 0.000000 0.005200 0.001900 0.006063 0.001259 0.002789 0.001055 0.000000 0.000266 0.010006 0.010582 0.004749 0.010582 934 18 62 7 0 4 655 169 19 154050 14294 22232 6638 10406 15049 65459 15971 4001 0.000039 0.000000 0.000000 0.000000 0.000000 0.000000 0.000092 0.000000 0.000000 3 0 0 0 0 0 3 0 0 661 0 0 0 0 0 0 0 0 267 4 17 3 0 0 191 43 9 PASS 0 Exomes+Genomes 2375 1208 3583 16 1 17 0.00669176 0.00082713 0.00472222 0.00669176 0.00082713 0.00472222 57 transversion C G C>G 0.000 -0.360 255 PASS . 0.0024 . . 0.01 . 0.0016 0.0014 . 0.004 0.001 ENSG00000102309:ENST00000373662:exon2:c.C288G:p.D96E . . . . 0.39473686 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . 0.0008 0.0047 0.0067 0.0008 0.0047 0.0067 . . . . . . . . . . 4.473e-03 . . . 0.0014 0.0066 0.0124 0 0.0217 0.0107 0.0173 0.0004 0.0009 0.0094 0.0134 0 0.0283 0.0185 0.0280 0.0004 nonsynonymous_SNV . . . . . exonic intronic intronic . . . 0.0016 . . . 0.31 0.25 182 ENSG00000102309 PIN4 PIN4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188658962 . . . . . . . . . . . . . . . . . . . . . . . 0.004722 . . . . . 0.0014 0.0057 0.0029 0.0011 0 0.0108 0.0094 0.0024 0.0003 0.0010 0.0083 0 0 0 0.0094 0.0130 0.0156 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188658962 rs188658962 1 1538 10 1/0 0,255,255 +rs774860836 X 73065663 C G - XIST 12810 X inactive specific transcript (non-protein coding) NR_001564.2 -1 19280 0 substitution exon GRCh37 73065663 73065663 ChrX(GRCh37):g.73065663C>G 6926 6926 NR_001564.2:n.6926G>C 1 314670 -4447 5' 78.1641 8.59132 0.949194 3.33636 78.1641 8.59132 0.949194 3.33636 0 Cryptic Acceptor Strongly Activated 73065643 4.78732 0.310414 71.7748 5.61931 0.454023 71.7748 rs774860836 yes no Frequency 1 C 0.000000 0 0.005872 0.013945 0.012841 0.003459 0.009341 0.005145 0.003854 0.000820 0.006740 0.013945 488 94 104 10 52 45 167 5 11 83113 6741 8099 2891 5567 8747 43335 6101 1632 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 488 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.328 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 26.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R2309P|XIST|Non-coding_transcript|NON_CODING|NR_001564|NR_001564.ex.1) . . . . . . . . . . . . . . . . 1.287e-03 . . . 0 0.0004 0.0006 0.0006 0 0.0004 0 0.0007 0 0.0004 0.0006 0.0008 0 0.0004 0 0.0007 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000229807 XIST XIST . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs774860836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0151 0.0059 0.0130 0.0035 0.0098 0.0005 0.0038 0.0070 0.0051 0.0017 0.0035 0 0 0 0.0087 0.0047 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs138551324 X 78616923 C T - ITM2A 6173 Integral membrane protein 2A NM_004867.4 -1 1834 792 NP_004858.1 O43736 substitution synonymous exon GRCh37 78616923 78616923 ChrX(GRCh37):g.78616923C>T 606 606 NM_004867.4:c.606G>A p.Val202= p.Val202Val 5 300222 54 3' 86.6123 8.97209 0.98506 1.66467 86.6123 8.97209 0.98506 1.21624 0 BRICHOS domain rs138551324 yes no Frequency/1000G 2 C 0.000000 0 0.003974 0.000000 0.002800 0.000000 0.014400 0.003800 0.006587 0.001265 0.004711 0.012202 0.000000 0.004386 0.009855 0.004040 0.004850 0.012202 1314 23 127 91 0 83 890 77 23 199496 18185 26961 7458 13862 18922 90305 19061 4742 0.000030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000022 0.000105 0.000422 3 0 0 0 0 0 1 1 1 817 0 0 0 0 0 0 0 0 491 5 24 38 0 51 334 32 7 PASS 0 Exomes+Genomes 6652 3830 10482 74 5 79 0.0110021 0.00130378 0.00748035 0.0110021 0.00130378 0.00748035 76 transition G A G>A 0.764 -0.844 V Val GTG 0.468 V Val GTA 0.114 202 255 PASS . 0.01 0.01 . 0.01 . 0.004 0.0029 . 0.011 0.002 . . . . . 0.60240966 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . . 0.0013 0.0075 0.011 0.0013 0.0075 0.011 . . . . . . . . . . 6.646e-03 . . . 0.0017 0.0065 0.0055 0 0.0047 0.0100 0.0042 0.0047 0.0018 0.0064 0.0054 0 0.0042 0.0092 0.0022 0.0047 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0040 . . . 0.31 0.22 182 ENSG00000078596 ITM2A ITM2A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138551324 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv519126 0.007480 . . . . . 0.0011 0.0066 0.0047 0.0121 0 0.0040 0.0099 0.0035 0.0044 0.0015 0.0063 0.0032 0.0159 0 0.0042 0.0097 0.0125 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138551324 rs138551324 1 1538 10 1/0 0,255,255 +rs372285686 X 84301476 G T - APOOL 24009 Apolipoprotein O-like NM_198450.5 1 6467 807 NP_940852.3 Q6UXV4 substitution missense exon GRCh37 84301476 84301476 ChrX(GRCh37):g.84301476G>T 40 40 NM_198450.5:c.40G>T p.Ala14Ser p.Ala14Ser 2 300955 25 3' 81.6795 7.70911 0.917306 V.31 81.6795 7.70911 0.917306 4.54414 0 rs372285686 yes no Frequency 1 G 0.000000 0 0.001248 0.000000 0.000039 0.000000 0.000000 0.000114 0.000382 0.010199 0.002799 0.010199 243 0 1 0 0 2 34 193 13 194746 17990 25788 7246 13526 17598 89029 18924 4645 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 169 0 0 0 0 0 0 0 0 74 0 1 0 0 2 9 58 4 PASS 0 Exomes+Genomes 6386 3152 9538 1 0 1 0.000156568 0 0.000104833 0.000156568 0 0.000104833 74 transversion G T G>T 0.008 -0.360 A Ala GCA 0.226 S Ser TCA 0.148 14 12 9 Zebrafish 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 215.83 0.00 Tolerated 0.22 III.32 255 PASS . . . . . . . . . . . ENSG00000155008:ENST00000373173:exon2:c.G40T:p.A14S APOOL:uc004eem.3:exon2:c.G40T:p.A14S APOOL:NM_198450:exon2:c.G40T:p.A14S . . 0.5769231 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.104 . @ . . . . . 1 0.322 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A14S|APOOL|mRNA|CODING|NM_198450|NM_198450.ex.2) . 0.0001 0.0002 . 0.0001 0.0002 . . . . . . . . . . 8.572e-04 . . . 0 0.0004 0.0001 0 0.0065 0.0002 0 0.0002 0 0.0008 0.0001 0 0.0072 0.0006 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.092 @ . . . 0.46 0.29 182 ENSG00000155008 APOOL APOOL . . . 0.700 0.227 . . . . . . . Likely_benign . 0 . 0.223 . . . . T 0.025 0.002 . . 37 . 0.408 . . 0.357 . . . 0.540 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.174 . . 0.133 . . . . . . 0 0.259 . . . . . 0.390 . 0.227 . HET 0.18 rs372285686 . . . . . . . . . . . . IX.33 0.0 . III.97 -1.14 . 0.120000 Q6UXV4 . . . 0.000105 . 0.077 . . . 0 0.0012 3.97e-05 0 0 0.0106 0.0003 0.0015 0.0001 0 0.0018 0 0 0 0.0078 0.0011 0.0096 . . . . -0.416 -0.416000 . . 0.120000 . . 1.0E-255 0.012 0.185 . 0.562 0.993 . 0.075 . 0.090 -0.416 0.917 0.0002 . . rs372285686 rs372285686 1 1538 10 1/0 0,255,255 +. X 99657608 T G - PCDH19 14270 Protocadherin 19 NM_001184880.1 -1 9756 3447 NP_001171809.1 Q8TAB3 substitution missense exon GRCh37 99657608 99657608 ChrX(GRCh37):g.99657608T>G 2530 2530 NM_001184880.1:c.2530A>C p.Ser844Arg p.Ser844Arg 3 300460 -87 5' 92.583 10.0326 0.995608 7.49577 92.583 10.0326 0.995608 7.49577 0 transversion A C A>C 0.992 3.595 S Ser AGT 0.149 R Arg CGT 0.082 844 12 6 Cow -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 215.83 67.21 Deleterious 0.05 IV.32 bad 3.256E-6 0.0272 255 PASS . . . . . . . . . . . . . . . . 0.49112427 . . @ 83 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.257 . @ . . . . . 1 0.285 . . 169.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.524 . . exonic exonic exonic . . 0.530 @ . . . . . . ENSG00000165194 PCDH19 PCDH19 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . T 0.309 0.012 . . 37 . 0.268 . . 0.100 . . . 0.065 0.265 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.245 . . 0 0 0 0 0 0 . 0.236 . . 0.181 . . . . . . 0 0.247 . . . . . 0.061 . 0.317 . HET 0.16 . . . . . . . . . . . . . 3.166 . . V.57 IV.44 . 0.540000 . . . Name\x3desv2752340 . . 0.503 . . IV.44 . . . . . . . . . . . . . . . . . . . . . 1.864 1.864000 . . 0.540000 . . 1.0E-255 0.621 0.277 . 0.364 0.276 . 0.376 . 0.623 1.864 0.079 . . . . . 1 1538 10 1/0 0,234,250 +rs148091932 X 100086553 G A - CSTF2 2484 Cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa NM_001306206.1 1 2658 1794 NP_001293135.1 substitution synonymous exon GRCh37 100086553 100086553 ChrX(GRCh37):g.100086553G>A 999 999 NM_001306206.1:c.999G>A p.Ala333= p.Ala333Ala 10 300907 50 3' 85.7233 8.83723 0.928455 5.96746 85.7233 8.83723 0.928455 5.25185 0 rs148091932 yes no Frequency/1000G 2 G 0.000000 0 0.000265 0.000000 0.000000 0.000000 0.001300 0.000000 0.000617 0.000110 0.000037 0.000000 0.000072 0.000106 0.001272 0.000000 0.000420 0.001272 123 2 1 0 1 2 115 0 2 199501 18163 26978 7420 13836 18817 90436 19091 4760 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000022 0.000000 0.000000 1 0 0 0 0 0 1 0 0 72 0 0 0 0 0 0 0 0 49 1 1 0 0 1 45 0 1 PASS 0 Exomes+Genomes 6724 3835 10559 4 0 4 0.00059453 0 0.00037868 0.00059453 0 0.00037868 117 transition G A G>A 0.646 0.448 A Ala GCG 0.107 A Ala GCA 0.226 333 255 PASS . 0.0006 . . 0.0017 . 0.0003 . . 0.001 . . . . . . 0.52100843 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . . . . . . . . . . 6.867e-04 . . . 0.0001 0.0005 0.0001 0 0 0.0011 0 9.895e-05 0.0001 0.0007 0.0001 0 0 0.0012 0 9.966e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0003 . . . 0.68 0.44 182 ENSG00000101811 CSTF2 CSTF2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148091932 . . . . . . . . . . . . . . . . . . . . . . . 0.000379 . . . . II.75 8.181e-05 0.0006 3.794e-05 0 7.815e-05 0 0.0014 0.0002 0.0001 0.0002 0.0004 0 0 0 0 0.0007 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs148091932 rs148091932 1 1538 10 1/0 0,254,255 +. (chrX:101478366 C/T) X 101478366 C T Not on a known gene +. X 101717926 G A - TCP11X2 48335 T-complex 11 family, X-linked 2 NM_001277423.1 -1 1747 1224 NP_001264352.1 Q5H9J9 substitution missense exon GRCh37 101717926 101717926 ChrX(GRCh37):g.101717926G>A 667 667 NM_001277423.1:c.667C>T p.Arg223Trp p.Arg223Trp 8 22 3' 78.0939 7.90862 0.79609 7.97634 78.0939 7.90862 0.79609 7.54666 0 Cryptic Acceptor Strongly Activated 101717917 1.0549 0.006541 74.8991 1.83058 0.012622 77.6109 0.000076 0.000000 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000160 1 0 0 0 0 0 1 0 0 13205 2200 1837 517 538 1264 6246 188 415 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transition C T C>T 0.677 3.111 R Arg CGG 0.207 W Trp TGG 1.000 223 12 11 Baker's yeast -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C35 26.00 95.78 Deleterious 0 II.78 234 PASS . . . . . . . . . . . ENSG00000215029:ENST00000453326:exon8:c.C667T:p.R223W . TCP11X2:NM_001277423:exon8:c.C667T:p.R223W . . 0.2544643 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.747 . @ . . . . . 1 0.859 . . 224.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R223W|TCP11X2|mRNA|CODING|NM_001277423.2|NM_001277423.2.ex.8) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.646 . . exonic exonic exonic . . 0.289 @ . . . 0.75 0.76 182 ENSG00000215029 TCP11X2 TCP11X2 . . . 0.003 0.097 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . D 0.776 0.102 . . 37 . 0.658 . . 0.766 . . . 0.861 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.932 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.420 . 0.790 . HET 1 . . . . . . . . . . . . . 10.1825 . ENST00000453326 II.46 II.46 . 0.000000 . . . . . . 0.410 . . II.46 0 7.573e-05 0 0 0 0 0.0002 0 0 . . . . . . . . . . . . 1.505 1.505000 . . 0.000000 . . 1.0E-234 0.992 0.373 . 0.100 0.259 . 0.459 . 0.318 1.505 0.897 . rs4898344 rs4898344 rs4898344 rs4898344 1 1538 10 1/0 0,206,255 +rs201052141 X 101718273 C T - TCP11X2 48335 T-complex 11 family, X-linked 2 NM_001277423.1 -1 1747 1224 NP_001264352.1 Q5H9J9 substitution intron GRCh37 101718273 101718273 ChrX(GRCh37):g.101718273C>T 425-7 425-7 NM_001277423.1:c.425-7G>A p.? p.? 7 6 -7 3' 81.8211 9.832 0.995863 7.32518 81.8211 9.82853 0.996031 7.70646 -6.13523e-05 Cryptic Donor Strongly Activated 101718271 4.05044 0.07174 65.0426 5.30375 0.28696 67.7906 rs201052141 no no 0 0.000000 0 0.005423 0.000000 0.007212 0.000000 0.000000 0.000000 0.013793 0.000000 0.000000 0.013793 5 0 3 0 0 0 2 0 0 922 26 416 6 17 229 145 8 75 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 195 Exomes transition G A G>A 0.000 -0.521 220 PASS . . . . . . . . . . . . . . . . 0.21374045 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . INTRON(MODIFIER||||TCP11X2|mRNA|CODING|NM_001277423.2|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.67 0.27 182 . . TCP11X2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201052141 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 0.0054 0.0072 0 0 0 0.0138 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs4898343 rs4898343 rs4898343 rs201052141 1 1538 10 1/0 0,225,255 +rs145606134 X 102192422 A G - RAB40AL 25410 RAB40A, member RAS oncogene family-like NM_001031834.1 1 1029 837 NP_001027004.1 P0C0E4 substitution missense exon GRCh37 102192422 102192422 ChrX(GRCh37):g.102192422A>G 176 176 NM_001031834.1:c.176A>G p.Asp59Gly p.Asp59Gly 1 300405 Small GTPase superfamily Mitochondrial Rho-like Small GTPase superfamily, ARF/SAR type Small GTP-binding protein domain rs145606134 yes no Frequency/1000G 2 uncertain_significance 0.000000 0 0.001589 0.000000 0.001400 0.000000 0.003900 0.003800 0.005122 0.000443 0.002427 0.035313 0.000000 0.004338 0.006031 0.001415 0.006503 0.035313 1025 8 66 264 0 83 546 27 31 200113 18048 27190 7476 13887 19135 90531 19079 4767 0.000090 0.000000 0.000074 0.001338 0.000000 0.000105 0.000044 0.000000 0.000000 9 0 1 5 0 1 2 0 0 594 0 0 0 0 0 0 0 0 413 4 19 94 0 57 221 9 9 PASS 0 Exomes+Genomes 6726 3835 10561 2 0 2 0.000297265 0 0.00018934 0.000297265 0 0.00018934 95 RCV000030692.3 germline literature only VUS 0 Mental retardation, X-linked, syndromic, martin-probst type COSM3694248|COSM3694249 Large intestine|Large intestine 0.000448|0.000448 2231|2231 transition A G A>G 1.000 1.013 D Asp GAC 0.539 G Gly GGC 0.342 59 12 9 Frog -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 236.78 0.00 Tolerated 0.07 III.59 good 4.898E-2 0.0782 255 PASS . . . . . . 0.0016 0.0029 . 0.003 0.001 ENSG00000102128:ENST00000218249:exon1:c.A176G:p.D59G RAB40AL:uc004ejs.3:exon1:c.A176G:p.D59G RAB40AL:NM_001031834:exon1:c.A176G:p.D59G . . 0.47379455 . . germline 226 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.701 . Uncertain//\@significance Uncertain_significance RCV000030692.3 . Gene:MedGen:OMIM:Orphanet 574047:C1845285:300519:ORPHA85321 1 0.808 . . 477.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D59G|RAB40AL|mRNA|CODING|NM_001031834|NM_001031834.ex.1) . 0.0002 0.0003 . 0.0002 0.0003 . . . . . . . . . . 4.783e-03 . . . 0.0001 0.0050 0.0015 0 0.0017 0.0089 0.0082 0.0037 0.0001 0.0046 0.0015 0 0.0022 0.0074 0.0108 0.0037 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.807 . . exonic exonic exonic . . 0.176 0.0016 . . . 0.29 0.21 182 ENSG00000102128 RAB40AL RAB40AL . . . 0.021 0.133 . . . . . . . Likely_benign . 0 . 0.477 . . . . T 0.242 0.009 . . 37 . 0.822 . . 0.796 . . . 0.299 0.486 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.893 . . 0 0 0 0 1 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.165 . 0.404 . HET 0.03 rs145606134 . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dMartin-Probst_deafness-mental_retardation_syndrome\x3bCLNACC\x3dRCV000030692.1 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dMartin-Probst_deafness-mental_retardation_syndrome\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000030692.1\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dC1845285:300519:ORPHA85321 CLINSIG\x3dunknown\x3bCLNDBN\x3dMartin-Probst_deafness-mental_retardation_syndrome\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000030692.2\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dC1845285:300519:ORPHA85321 CLINSIG\x3dunknown\x3bCLNDBN\x3dMartin-Probst_deafness-mental_retardation_syndrome\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000030692.2\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dC1845285:300519:ORPHA85321 . . . . . . V.61 0.0 ENST00000218249 0.779 0.779 . 0.000000 P0C0E4 . . . 0.000189 . 0.334 . . . 0.0003 0.0053 0.0024 0.0347 0 0.0015 0.0062 0.0069 0.0043 0.0007 0.0035 0.0049 0.0582 0 0.0008 0.0049 0.0042 . . . . 0.560 0.560000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.483 0.153 . 0.499 . 0.286 0.560 0.679 0.0003 . . rs145606134 . 1 1538 10 1/0 0,191,213 +rs138133927 X 102192423 C A - RAB40AL 25410 RAB40A, member RAS oncogene family-like NM_001031834.1 1 1029 837 NP_001027004.1 P0C0E4 substitution missense exon GRCh37 102192423 102192423 ChrX(GRCh37):g.102192423C>A 177 177 NM_001031834.1:c.177C>A p.Asp59Glu p.Asp59Glu 1 300405 Small GTPase superfamily Mitochondrial Rho-like Small GTPase superfamily, ARF/SAR type Small GTP-binding protein domain rs138133927 yes no Frequency/1000G 2 0.000000 0 0.001589 0.000000 0.001400 0.000000 0.003900 0.003800 0.005122 0.000443 0.002428 0.035332 0.000000 0.004339 0.006030 0.001415 0.006503 0.035332 1025 8 66 264 0 83 546 27 31 200110 18047 27187 7472 13885 19129 90543 19080 4767 0.000090 0.000000 0.000074 0.001338 0.000000 0.000105 0.000044 0.000000 0.000000 9 0 1 5 0 1 2 0 0 594 0 0 0 0 0 0 0 0 413 4 19 94 0 57 221 9 9 PASS 0 Exomes+Genomes 6727 3835 10562 1 0 1 0.000148633 0 9.46701e-05 0.000148633 0 9.46701e-05 95 COSM3694251|COSM3694250 Large intestine|Large intestine 0.000448|0.000448 2231|2231 transversion C A C>A 1.000 0.770 D Asp GAC 0.539 E Glu GAA 0.417 59 12 9 Frog 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 236.78 0.00 Tolerated 0.89 III.59 good 5.549E-1 0.0782 255 PASS . . . . . . 0.0016 0.0029 . 0.003 0.001 ENSG00000102128:ENST00000218249:exon1:c.C177A:p.D59E RAB40AL:uc004ejs.3:exon1:c.C177A:p.D59E RAB40AL:NM_001031834:exon1:c.C177A:p.D59E . . 0.47095436 . . @ 227 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.386 . @ . . . . . 1 0.650 . . 482.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D59E|RAB40AL|mRNA|CODING|NM_001031834|NM_001031834.ex.1) . 0.0001 0.0001 . 0.0001 0.0001 . . . . . . . . . . 4.775e-03 . . . 0.0001 0.0050 0.0015 0 0.0017 0.0089 0.0082 0.0037 0.0001 0.0046 0.0015 0 0.0022 0.0074 0.0108 0.0037 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.810 . . exonic exonic exonic . . 0.118 0.0016 . . . 0.28 0.29 182 ENSG00000102128 RAB40AL RAB40AL . . . 0.014 0.126 . . . . . . . Likely_benign . 0 . 0.477 . . . . T 0.180 0.007 . . 37 . 0.773 . . 0.715 . . . 0.197 0.429 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.558 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.214 . . . . . 0.139 . 0.129 . HET 0.25 rs138133927 . . . . . . . . . . . . 5.0905 0.0 ENST00000218249 0.779 -0.373 . 0.130000 P0C0E4 . . . 0.000095 . 0.286 . . . 0.0003 0.0053 0.0024 0.0347 0 0.0015 0.0062 0.0069 0.0043 0.0007 0.0035 0.0049 0.0585 0 0.0008 0.0049 0.0042 . . . . -0.179 -0.179000 . . 0.130000 . . 1.0E-255 0.974 0.344 . 0.480 0.160 . 0.086 . 0.077 -0.179 -0.226 0.0001 . . rs138133927 rs138133927 1 1538 10 1/0 0,191,213 +rs209372 (chrX:105153001 A/G) X 105153001 A G Transcript NM_198465.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) NRK +. X 108297675 G GC - MIR6087 50045 MicroRNA 6087 NR_106735.1 1 49 0 duplication upstream GRCh37 108297681 108297682 ChrX(GRCh37):g.108297681dup -91 -91 NR_106735.1:n.-91dup p.? p.? 1 rs79152386 no no 0 0.000000 0 0.000048 0.000179 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000179 1 1 0 0 0 0 0 0 0 20801 5584 608 178 990 0 10136 2602 703 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.9578313 . . . 477 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 498 . . UPSTREAM(MODIFIER||||MIR6087|Non-coding_transcript|NON_CODING|NR_106735|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . . . . . . . . ENSG00000226958 . MIR6087 . dist\x3d318068\x3bdist\x3d318460 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs139363226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 4.807e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79152386 rs79152386 1 1538 255 1.I 0,0,255 +rs7881922 X 108297699 T C - MIR6087 50045 MicroRNA 6087 NR_106735.1 1 49 0 substitution upstream GRCh37 108297699 108297699 ChrX(GRCh37):g.108297699T>C -73 -73 NR_106735.1:n.-73T>C p.? p.? 1 rs7881922 no no 0 0.000000 0 0.000098 0.000180 0.000000 0.000000 0.000000 0.000000 0.000101 0.000000 0.000000 0.000180 2 1 0 0 0 0 1 0 0 20384 5545 596 160 975 0 9872 2559 677 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.9878788 . . @ 489 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 495.0 . . UPSTREAM(MODIFIER||||MIR6087|Non-coding_transcript|NON_CODING|NR_106735|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.4 0.11 182 ENSG00000226958 . MIR6087 . dist\x3d318092\x3bdist\x3d318436 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7881922 0.739 0.746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.812e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.74 rs7881922 rs7881922 rs7881922 rs7881922 1 1538 255 1.I 0,0,255 +rs10871901 X 108297702 A G - MIR6087 50045 MicroRNA 6087 NR_106735.1 1 49 0 substitution upstream GRCh37 108297702 108297702 ChrX(GRCh37):g.108297702A>G -70 -70 NR_106735.1:n.-70A>G p.? p.? 1 rs10871901 yes no Frequency/1000G 2 0.000000 0 0.000265 0.001000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20589 5601 597 161 995 0 9999 2550 686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition A G A>G 0.000 -14.080 255 PASS . . . . . 0.0008 0.0003 . . . . . . . . . 0.9878296 . . @ 487 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 493.0 . . UPSTREAM(MODIFIER||||MIR6087|Non-coding_transcript|NON_CODING|NR_106735|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . 0.0003 . . . 0.42 0.11 182 ENSG00000226958 . MIR6087 . dist\x3d318095\x3bdist\x3d318433 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs10871901 0.739 0.746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.74 rs10871901 rs10871901 rs10871901 rs10871901 1 1538 255 1.I 0,0,255 +rs10453785 X 108297713 T C - MIR6087 50045 MicroRNA 6087 NR_106735.1 1 49 0 substitution upstream GRCh37 108297713 108297713 ChrX(GRCh37):g.108297713T>C -59 -59 NR_106735.1:n.-59T>C p.? p.? 1 rs10453785 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20649 5602 600 165 996 0 10030 2560 696 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.9873684 . . @ 469 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 475.0 . . UPSTREAM(MODIFIER||||MIR6087|Non-coding_transcript|NON_CODING|NR_106735|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.41 0.1 182 ENSG00000226958 . MIR6087 . dist\x3d318106\x3bdist\x3d318422 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs10453785 0.739 0.746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.74 rs10453785 rs10453785 rs10453785 rs10453785 1 1538 255 1.I 0,0,255 +rs181113380 X 119425043 C T - TMEM255A 26086 Transmembrane protein 255A NM_017938.3 -1 3497 1050 NP_060408.3 Q5JRV8 substitution intron GRCh37 119425043 119425043 ChrX(GRCh37):g.119425043C>T 354+63 354+63 NM_017938.3:c.354+63G>A p.? p.? 4 4 63 5' 74.2049 7.35335 0.749548 1.31071 74.2049 7.35335 0.749548 1.28647 0 Cryptic Donor Strongly Activated 119425046 0.361867 0.006793 66.7637 3.90972 0.271328 71.1261 rs181113380 yes no Frequency/1000G 2 C 0.000000 0 0.001324 0.000000 0.000000 0.000000 0.002600 0.005700 0.000877 0.000341 0.001613 0.000000 0.000000 0.000000 0.001135 0.000376 0.004144 0.001613 19 2 1 0 0 0 12 1 3 21672 5872 620 189 1030 0 10576 2661 724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 0 0 0 8 0 0 0 0 0 6 1 1 PASS 45 Genomes transition G A G>A 0.008 0.448 255 PASS 0.0027 0.0018 0.0036 . 0.0017 . 0.0013 0.0043 . 0.002 . . . . . . 0.5049505 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0013 . . . 0.47 0.32 182 ENSG00000125355 TMEM255A TMEM255A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv2470e1 . . . . . II.42 . . . . . . . . . 0.0003 0.0009 0.0016 0 0 0.0004 0.0011 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0036 . . rs181113380 rs181113380 1 1538 10 1/0 0,255,255 +. X 119695342 A C - CUL4B 2555 Cullin 4B NM_003588.3 -1 5351 2742 NP_003579.3 Q13620 substitution intron GRCh37 119695342 119695342 ChrX(GRCh37):g.119695342A>C 68-862 68-862 NM_003588.3:c.68-862T>G p.? p.? 3 2 300304 -862 3' 85.18 IX.37 0.836758 8.14588 85.18 IX.37 0.836758 8.14588 0 New Acceptor Site 119695341 7.13211 0.326185 69.8532 rs1031454878 no no 0 A 0.000000 0 0.002722 0.000224 0.000000 0.000000 0.000000 0.000000 0.003096 0.006214 0.008375 0.006214 46 1 0 0 0 0 25 15 5 16898 4455 510 132 714 0 8076 2414 597 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 0 0 0 0 0 0 0 0 6 0 0 0 0 0 4 2 0 PASS 38 Genomes transversion T G T>G 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000158290 CUL4B CUL4B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0027 0 0 0 0.0062 0.0031 0.0084 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A1 33282 Cancer/testis antigen family 47, member A1 NM_001080146.1 -1 1294 867 NP_001073615.1 Q5JQC4 substitution intron GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 742+978 742+978 NM_001080146.1:c.742+978C>T p.? p.? 1 1 300780 978 5' 85.7138 9.16003 0.99132 X.13 85.7138 9.16003 0.99132 X.13 0 transition C T C>T 0.004 -0.521 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A10 33291 Cancer/testis antigen family 47, member A10 NM_001080137.1 -1 1294 867 NP_001073606.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080137.1:c.833C>T p.Ala278Val p.Ala278Val 2 300789 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A11 27397 Cancer/testis antigen family 47, member A11 NM_173571.2 -1 1294 867 NP_775842.2 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_173571.2:c.833C>T p.Ala278Val p.Ala278Val 2 300592 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A12 33292 Cancer/testis antigen family 47, member A12 NM_001242922.1 -1 1294 867 NP_001229851.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001242922.1:c.833C>T p.Ala278Val p.Ala278Val 2 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A2 33283 Cancer/testis antigen family 47, member A2 NM_001080145.1 -1 1294 867 NP_001073614.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080145.1:c.833C>T p.Ala278Val p.Ala278Val 2 300781 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A3 33284 Cancer/testis antigen family 47, member A3 NM_001080144.1 -1 1294 867 NP_001073613.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080144.1:c.833C>T p.Ala278Val p.Ala278Val 2 300782 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A4 33285 Cancer/testis antigen family 47, member A4 NM_001080143.1 -1 1294 867 NP_001073612.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080143.1:c.833C>T p.Ala278Val p.Ala278Val 2 300783 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A5 33286 Cancer/testis antigen family 47, member A5 NM_001080142.1 -1 1294 867 NP_001073611.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080142.1:c.833C>T p.Ala278Val p.Ala278Val 2 300784 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A8 33289 Cancer/testis antigen family 47, member A8 NM_001080139.1 -1 1294 867 NP_001073608.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080139.1:c.833C>T p.Ala278Val p.Ala278Val 2 300787 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A9 33290 Cancer/testis antigen family 47, member A9 NM_001080138.1 -1 1294 867 NP_001073607.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080138.1:c.833C>T p.Ala278Val p.Ala278Val 2 300788 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. (chrX:120075004 G/C) X 120075004 G C Not on a known gene +. (chrX:120084725 G/C) X 120084725 G C Not on a known gene +. (chrX:120118769 G/C) X 120118769 G C Not on a known gene +rs138530347 X 129159287 C T - BCORL1 25657 BCL6 corepressor-like 1 NM_001184772.2 1 7349 5358 NP_001171701.1 substitution synonymous exon GRCh37 129159287 129159287 ChrX(GRCh37):g.129159287C>T 4011 4011 NM_001184772.2:c.4011C>T p.Ser1337= p.Ser1337Ser 6 300688 -68 5' 94.9812 11.083 0.996177 XII.91 94.9812 11.083 0.996177 XII.21 0 rs138530347 yes no Frequency/1000G 2 C 0.000000 0 0.000795 0.000000 0.001400 0.000000 0.001300 0.001900 0.002746 0.000504 0.001000 0.004245 0.000000 0.000635 0.004855 0.000831 0.002642 0.004855 493 9 24 23 0 9 402 15 11 179524 17840 23999 5418 13081 14168 82795 18059 4164 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 1 0 0 0 0 0 1 0 0 349 0 0 0 0 0 0 0 0 142 3 4 5 0 6 119 2 3 PASS 0 Exomes+Genomes 6703 3831 10534 24 4 28 0.00356771 0.00104302 0.00265101 0.00356771 0.00104302 0.00265101 71 transition C T C>T 1.000 1.497 S Ser AGC 0.243 S Ser AGT 0.149 1337 255 PASS . 0.0006 . . 0.0017 . 0.0008 0.0014 . 0.001 0.001 . . . . . 0.62 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.001 0.0027 0.0036 0.001 0.0027 0.0036 . . . . . . . . . . 2.594e-03 . . . 0.0005 0.0024 0.0010 0 0 0.0044 0.0023 0.0005 0.0004 0.0027 0.0009 0 0.0004 0.0047 0.0024 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.6 0.34 182 ENSG00000085185 BCORL1 BCORL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138530347 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv528290 0.002651 . . . . IV.75 0.0005 0.0028 0.0010 0.0044 0 0.0007 0.0049 0.0026 0.0006 0.0005 0.0026 0 0 0 0.0015 0.0046 0.0028 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0036 . . rs138530347 rs138530347 1 1538 10 1/0 0,255,255 +. X 134872198 A C - CT45A2 28400 Cancer/testis antigen family 45, member A2 NM_152582.6 1 1010 570 NP_689795.4 Q5DJT8 substitution synonymous exon GRCh37 134872198 134872198 ChrX(GRCh37):g.134872198A>C 312 312 NM_152582.6:c.312A>C p.Gly104= p.Gly104Gly 3 300793 -107 5' 87.5573 9.72159 0.986187 2.96181 87.5573 9.72159 0.986187 2.96181 0 transversion A C A>C 0.000 0.044 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242185 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134872198 A C - CT45A5 33270 Cancer/testis antigen family 45, member A5 NM_001007551.4 1 1321 570 NP_001007552.2 Q8NHU0 substitution synonymous exon GRCh37 134872198 134872198 ChrX(GRCh37):g.134872198A>C 312 312 NM_001007551.4:c.312A>C p.Gly104= p.Gly104Gly 3 300796 -107 5' 87.5573 9.72159 0.986187 II.87 87.5573 9.72159 0.986187 II.87 0 transversion A C A>C 0.000 0.044 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242185 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134872198 A C - CT45A8 51261 Cancer/testis antigen family 45, member A8 NM_001291535.1 1 1010 570 NP_001278464.1 P0DMV1 substitution synonymous exon GRCh37 134872198 134872198 ChrX(GRCh37):g.134872198A>C 312 312 NM_001291535.1:c.312A>C p.Gly104= p.Gly104Gly 3 -107 5' 87.5573 9.72159 0.986187 2.96181 87.5573 9.72159 0.986187 2.96181 0 transversion A C A>C 0.000 0.044 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242185 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134872198 A C - CT45A9 51262 Cancer/testis antigen family 45, member A9 NM_001291540.2 1 1368 570 NP_001278469.1 P0DMV2 substitution synonymous exon GRCh37 134872198 134872198 ChrX(GRCh37):g.134872198A>C 312 312 NM_001291540.2:c.312A>C p.Gly104= p.Gly104Gly 3 -107 5' 87.5573 9.72159 0.986187 2.96181 87.5573 9.72159 0.986187 2.96181 0 transversion A C A>C 0.000 0.044 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242185 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134930750 T G - CT45A4 33269 Cancer/testis antigen family 45, member A4 NM_001017436.1 -1 1008 570 NP_001017436.1 Q8N7B7 substitution synonymous exon GRCh37 134930750 134930750 ChrX(GRCh37):g.134930750T>G 312 312 NM_001017436.1:c.312A>C p.Gly104= p.Gly104Gly 3 300795 -107 5' 87.5573 9.72159 0.986187 2.26452 87.5573 9.72159 0.986187 2.26452 0 Cupin, RmlC-type transversion A C A>C 0.008 1.497 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . CT45A4:uc004ezd.3:exon3:c.A312C:p.G104G CT45A4:NM_001017436:exon3:c.A312C:p.G104G . . 0.22222222 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G104|CT45A4|mRNA|CODING|NM_001017436.2|NM_001017436.2.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000228836 CT45A4 CT45A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134965265 T G - CT45A10 51263 Cancer/testis antigen family 45, member A10 NM_001291527.1 -1 1245 570 NP_001278456.1 P0DMU9 substitution upstream GRCh37 134965265 134965265 ChrX(GRCh37):g.134965265T>G -11533 -11533 NM_001291527.1:c.-11533A>C p.? p.? 1 -11527 5' 73.8017 7.93713 0.900637 5.28142 73.8017 7.93713 0.900637 5.28142 0 transversion A C A>C 0.000 0.932 233 PASS . . . . . . . . . . . . CT45A6:uc004ezf.3:exon3:c.A312C:p.G104G CT45A7:NM_001291543:exon3:c.A312C:p.G104G . . 0.25641027 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000226907 CT45A6 CT45A7 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134986775 C CTGTG - SAGE1 30369 Sarcoma antigen 1 NM_018666.2 1 3046 2715 NP_061136.2 Q9NXZ1 insertion intron GRCh37 134986775 134986776 ChrX(GRCh37):g.134986775_134986776insTGTG 313+47 313+48 NM_018666.2:c.313+47_313+48insTGTG p.? p.? 4 4 300359 47 5' 73.7673 4.88364 0.330055 0 73.7673 4.88364 0.330055 0 0 rs376845768 no no 0 0.000000 0 TGTG 255 Pass . . . . . . . . . . . . . . . . 0.95 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 20 . . INTRON(MODIFIER||||SAGE1|mRNA|CODING|NM_018666|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000181433 SAGE1 SAGE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,130,255 +rs201136844 X 134986776 C T - SAGE1 30369 Sarcoma antigen 1 NM_018666.2 1 3046 2715 NP_061136.2 Q9NXZ1 substitution intron GRCh37 134986776 134986776 ChrX(GRCh37):g.134986776C>T 313+48 313+48 NM_018666.2:c.313+48C>T p.? p.? 4 4 300359 48 5' 73.7673 4.88364 0.330055 0 73.7673 4.88364 0.330055 0 0 rs201136844 no no 0 0.000000 0 0.000048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000099 0.000000 0.000000 0.000099 1 0 0 0 0 0 1 0 0 21012 5782 587 161 1007 0 10124 2647 704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 PASS 45 Genomes transition C T C>T 0.000 -0.279 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . INTRON(MODIFIER||||SAGE1|mRNA|CODING|NM_018666|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.17 182 ENSG00000181433 SAGE1 SAGE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.759e-05 0 0 0 0 9.878e-05 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs201136844 rs201136844 1 1538 255 1.I 0,0,255 +rs199837546 X 134986781 G C - SAGE1 30369 Sarcoma antigen 1 NM_018666.2 1 3046 2715 NP_061136.2 Q9NXZ1 substitution intron GRCh37 134986781 134986781 ChrX(GRCh37):g.134986781G>C 313+53 313+53 NM_018666.2:c.313+53G>C p.? p.? 4 4 300359 53 5' 73.7673 4.88364 0.330055 0 73.7673 4.88364 0.330055 0 0 rs199837546 yes no Frequency/1000G 2 0.000000 0 0.161589 0.088700 0.140700 0.132200 0.270200 0.213700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21053 5789 593 164 1016 0 10147 2642 702 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 45 Genomes transversion G C G>C 0.000 -1.489 111 PASS . . . . . 0.067 0.16 0.16 0.1 0.21 0.1 . . . . . 1.0 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . INTRON(MODIFIER||||SAGE1|mRNA|CODING|NM_018666|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1616 . . . 0.26 0.13 182 ENSG00000181433 SAGE1 SAGE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs199837546 rs199837546 1 1538 255 1.I 0,0,255 +rs144800387 X 135474417 C T - ADGRG4 18992 Adhesion G protein-coupled receptor G4 NM_153834.3 1 9931 9243 NP_722576.3 Q8IZF6 substitution synonymous exon GRCh37 135474417 135474417 ChrX(GRCh37):g.135474417C>T 7938 7938 NM_153834.3:c.7938C>T p.Thr2646= p.Thr2646Thr 17 27 3' 90.5855 XI.38 0.977485 VIII.73 90.5855 XI.38 0.977485 8.20312 0 rs144800387 yes no Frequency/1000G 2 C 0.000000 0 0.001589 0.000000 0.000000 0.003900 0.001300 0.003800 0.002611 0.000000 0.000298 0.001970 0.000424 0.000000 0.003323 0.007627 0.002023 0.007627 441 0 6 13 4 0 271 139 8 168910 14949 20147 6598 9432 14040 81564 18225 3955 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000049 0.000110 0.000000 3 0 0 0 0 0 2 1 0 283 0 0 0 0 0 0 0 0 152 0 2 3 2 0 92 50 3 PASS 0 Exomes+Genomes 6712 3835 10547 16 0 16 0.00237812 0 0.00151472 0.00237812 0 0.00151472 103 transition C T C>T 0.992 1.013 T Thr ACC 0.361 T Thr ACT 0.243 2646 255 PASS . 0.0018 0.0036 0.0047 . . 0.0016 0.0029 0.003 0.001 . . . ADGRG4:NM_153834:exon17:c.C7938T:p.T2646T . . 0.6415094 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T2646|ADGRG4|mRNA|CODING|NM_153834|NM_153834.ex.17) . 0.0015 0.0024 . 0.0015 0.0024 . . . . . . . . . . 1.887e-03 . . . 0.0001 0.0015 0.0001 0.0009 0.0068 0.0024 0.0022 0 0 0.0019 0.0001 0.0007 0.0060 0.0027 0.0022 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.33 0.3 182 ENSG00000156920 GPR112 ADGRG4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144800387 . . . . . . . . . . . . . . . . . . . . . . . 0.001515 . . . . II.47 0 0.0023 0.0003 0.0020 0.0005 0.0075 0.0028 0.0015 0 0 0.0054 0 0 0 0.0088 0.0079 0.0050 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0047 . . rs144800387 rs144800387 1 1538 10 1/0 0,255,255 +rs139318512 X 139006271 C G - MIR505 32140 MicroRNA 505 NR_030230.1 -1 84 0 substitution downstream GRCh37 139006271 139006271 ChrX(GRCh37):g.139006271C>G *36 *36 NR_030230.1:n.*36G>C p.? p.? 1 rs139318512 yes no Frequency/1000G 2 C 0.000000 0 0.002119 0.000000 0.000000 0.000000 0.009100 0.001900 0.007007 0.000832 0.002654 0.018489 0.000000 0.000578 0.010887 0.008084 0.005876 0.018489 1396 15 72 137 0 11 979 154 28 199228 18027 27133 7410 13878 19041 89925 19049 4765 0.000080 0.000000 0.000000 0.000270 0.000000 0.000000 0.000111 0.000210 0.000000 8 0 0 1 0 0 5 2 0 870 0 0 0 0 0 0 0 0 510 3 16 57 0 7 357 59 11 PASS 0 Exomes+Genomes 5436 2622 8058 62 5 67 0.0112768 0.00190331 0.00824615 0.0112768 0.00190331 0.00824615 108 transversion G C G>C 0.008 2.142 255 PASS . 0.003 0.0036 . 0.01 . 0.0021 0.0014 . 0.007 . . . . . . 0.55 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . DOWNSTREAM(MODIFIER||||MIR505|Non-coding_transcript|NON_CODING|NR_030230|) 0.0019 0.0082 0.011 0.0019 0.0082 0.011 . . . . . . . . . . 7.439e-03 . . . 0.0007 0.0057 0.0028 0 0.0055 0.0106 0.0062 0.0006 0.0005 0.0071 0.0024 0 0.0068 0.0123 0.0086 0.0006 . . . . . . intronic downstream downstream . . . 0.0021 . . . 0.62 0.45 182 ENSG00000101974 MIR505 MIR505 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139318512 . . . . . . . . . . . . . . . . . . . . . . . 0.008246 . . . . III.86 0.0008 0.0072 0.0026 0.0184 0 0.0084 0.0112 0.0057 0.0006 0.0009 0.0056 0.0033 0.0214 0 0.0061 0.0085 0.0069 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139318512 rs139318512 1 1538 10 1/0 0,255,255 +. X 140085584 T C - SPANXB1 14329 SPANX family member B1 NM_032461.3 1 469 312 NP_115850.2 Q9NS25 substitution intron GRCh37 140085584 140085584 ChrX(GRCh37):g.140085584T>C 91-12 91-12 NM_032461.3:c.91-12T>C p.? p.? 2 1 300669 -12 3' 92.2792 XII.96 0.987892 XII.61 88.9645 XII.48 0.984811 XI.37 -0.0200358 transition T C T>C 0.008 -1.005 199 PASS . . . . . . . . . . . . . . . . 0.15714286 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||SPANXB1|mRNA|CODING|NM_032461|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000227234 SPANXF1 SPANXB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. (chrX:140085725 G/C) X 140085725 G C Transcript NM_032461.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) SPANXB1 +. (chrX:140097589 T/C) X 140097589 T C Not on a known gene +. (chrX:140097730 G/C) X 140097730 G C Not on a known gene +. X 140671826 T G - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution 3'UTR GRCh37 140671826 140671826 ChrX(GRCh37):g.140671826T>G *34 *34 NM_013453.3:c.*34A>C p.? p.? 2 300305 256 3' 88.9645 XII.48 0.984811 XI.07 88.9645 XII.48 0.984811 XI.07 0 transversion A C A>C 0.004 -0.360 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 140671826 T G - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution 3'UTR GRCh37 140671826 140671826 ChrX(GRCh37):g.140671826T>G *34 *34 NM_145662.3:c.*34A>C p.? p.? 2 300493 256 3' 88.9645 XII.48 0.984811 XI.07 88.9645 XII.48 0.984811 XI.07 0 transversion A C A>C 0.004 -0.360 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 140671826 T G - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140671826 140671826 ChrX(GRCh37):g.140671826T>G 572+63249 572+63249 NR_037183.2:n.572+63249T>G p.? p.? 3 3 63249 5' 84.5009 IX.03 0.989783 0 84.5009 IX.03 0.989783 0 0 transversion T G T>G 0.004 -0.360 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 140671952 G C - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution missense exon GRCh37 140671952 140671952 ChrX(GRCh37):g.140671952G>C 202 202 NM_013453.3:c.202C>G p.Leu68Val p.Leu68Val 2 300305 130 3' 88.9645 XII.48 0.984811 XI.07 88.9645 XII.48 0.984811 XI.07 0 New Donor Site 140671953 3.52916 0.205679 74.975 SPANX family protein transversion C G C>G 0.004 -2.216 L Leu CTG 0.404 V Val GTG 0.468 68 2 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 30.92 0.00 Tolerated 1 IV.32 231 PASS . . . . . . . . . . . ENSG00000198021:ENST00000370519:exon2:c.C202G:p.L68V SPANXA2:uc004fbn.3:exon2:c.C202G:p.L68V . . . 0.24545455 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.026 . . 110.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . . @ . . . 0.36 0.24 182 ENSG00000198021 SPANXA2 . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.991 0.882 . . 37 . 0.022 . . 0.443 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.020 . . . . . . . 0.107 . HET 1 . . . . . . . . . . . . . . . ENST00000370519 . . . 0.680000 Q9NS26 . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . . . -2.181 -2.181000 . . 0.680000 . . 1.0E-231 0.000 0.063 . 0.043 0.018 . 0.026 . 0.012 -2.181 -2.345 . rs60435127 rs60435127 rs60435127 rs60435127 1 1538 10 1/0 0,235,255 +. X 140671952 G C - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution missense exon GRCh37 140671952 140671952 ChrX(GRCh37):g.140671952G>C 202 202 NM_145662.3:c.202C>G p.Leu68Val p.Leu68Val 2 300493 130 3' 88.9645 XII.48 0.984811 XI.07 88.9645 XII.48 0.984811 XI.07 0 New Donor Site 140671953 3.52916 0.205679 74.975 transversion C G C>G 0.004 -2.216 L Leu CTG 0.404 V Val GTG 0.468 68 2 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 30.92 0.00 Tolerated 1 IV.32 231 PASS . . . . . . . . . . . ENSG00000198021:ENST00000370519:exon2:c.C202G:p.L68V SPANXA2:uc004fbn.3:exon2:c.C202G:p.L68V . . . 0.24545455 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.026 . . 110.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . . @ . . . 0.36 0.24 182 ENSG00000198021 SPANXA2 . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.991 0.882 . . 37 . 0.022 . . 0.443 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.020 . . . . . . . 0.107 . HET 1 . . . . . . . . . . . . . . . ENST00000370519 . . . 0.680000 Q9NS26 . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . . . -2.181 -2.181000 . . 0.680000 . . 1.0E-231 0.000 0.063 . 0.043 0.018 . 0.026 . 0.012 -2.181 -2.345 . rs60435127 rs60435127 rs60435127 rs60435127 1 1538 10 1/0 0,235,255 +. X 140671952 G C - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140671952 140671952 ChrX(GRCh37):g.140671952G>C 572+63375 572+63375 NR_037183.2:n.572+63375G>C p.? p.? 3 3 63375 5' 84.5009 IX.03 0.989783 0 84.5009 IX.03 0.989783 0 0 Cryptic Acceptor Strongly Activated 140671956 0.9988 0.023847 3.39944 0.025923 74.9384 transversion G C G>C 0.004 -2.216 231 PASS . . . . . . . . . . . ENSG00000198021:ENST00000370519:exon2:c.C202G:p.L68V SPANXA2:uc004fbn.3:exon2:c.C202G:p.L68V . . . 0.24545455 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.026 . . 110.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . . @ . . . 0.36 0.24 182 ENSG00000198021 SPANXA2 . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.991 0.882 . . 37 . 0.022 . . 0.443 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.020 . . . . . . . 0.107 . HET 1 . . . . . . . . . . . . . . . ENST00000370519 . . . 0.680000 Q9NS26 . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . . . -2.181 -2.181000 . . 0.680000 . . 1.0E-231 0.000 0.063 . 0.043 0.018 . 0.026 . 0.012 -2.181 -2.345 . rs60435127 rs60435127 rs60435127 rs60435127 1 1538 10 1/0 0,235,255 +. X 140672712 G A - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution intron GRCh37 140672712 140672712 ChrX(GRCh37):g.140672712G>A 72+17 72+17 NM_013453.3:c.72+17C>T p.? p.? 1 1 300305 17 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.65101 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1745 20 971 0 88 462 102 0 102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 123 Exomes transition C T C>T 0.012 -2.054 197 PASS . . . . . . . . . . . . . . . . 0.15267175 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +. X 140672712 G A - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution intron GRCh37 140672712 140672712 ChrX(GRCh37):g.140672712G>A 72+17 72+17 NM_145662.3:c.72+17C>T p.? p.? 1 1 300493 17 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.65101 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1745 20 971 0 88 462 102 0 102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 123 Exomes transition C T C>T 0.012 -2.054 197 PASS . . . . . . . . . . . . . . . . 0.15267175 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +. X 140672712 G A - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140672712 140672712 ChrX(GRCh37):g.140672712G>A 572+64135 572+64135 NR_037183.2:n.572+64135G>A p.? p.? 3 3 64135 5' 84.5009 IX.03 0.989783 0 84.5009 IX.03 0.989783 0 0 Cryptic Acceptor Strongly Activated 140672723 0.006396 3.91938 0.003518 66.4237 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1745 20 971 0 88 462 102 0 102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 123 Exomes transition G A G>A 0.012 -2.054 197 PASS . . . . . . . . . . . . . . . . 0.15267175 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs111825908 X 140672884 A G - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution upstream GRCh37 140672884 140672884 ChrX(GRCh37):g.140672884A>G -84 -84 NM_013453.3:c.-84T>C p.? p.? 1 300305 -156 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.51729 0 rs111825908 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13767 Genomes transition T C T>C 0.000 0.528 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111825908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs111825908 rs111825908 1 1538 10 1/0 0,249,255 +rs111825908 X 140672884 A G - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution upstream GRCh37 140672884 140672884 ChrX(GRCh37):g.140672884A>G -84 -84 NM_145662.3:c.-84T>C p.? p.? 1 300493 -156 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.51729 0 rs111825908 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13767 Genomes transition T C T>C 0.000 0.528 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111825908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs111825908 rs111825908 1 1538 10 1/0 0,249,255 +rs111825908 X 140672884 A G - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140672884 140672884 ChrX(GRCh37):g.140672884A>G 573-64045 573-64045 NR_037183.2:n.573-64045A>G p.? p.? 4 3 -64045 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 rs111825908 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13767 Genomes transition A G A>G 0.000 0.528 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111825908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs111825908 rs111825908 1 1538 10 1/0 0,249,255 +rs112961592 X 140672886 G A - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution upstream GRCh37 140672886 140672886 ChrX(GRCh37):g.140672886G>A -86 -86 NM_013453.3:c.-86C>T p.? p.? 1 300305 -158 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.51729 0 Cryptic Donor Strongly Activated 140672892 3.05045 0.094788 62.6288 3.88506 0.330838 68.4074 rs112961592 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6995 Genomes transition C T C>T 0.000 -2.297 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112961592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs112961592 rs112961592 1 1538 10 1.I 0,0,0 +rs112961592 X 140672886 G A - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution upstream GRCh37 140672886 140672886 ChrX(GRCh37):g.140672886G>A -86 -86 NM_145662.3:c.-86C>T p.? p.? 1 300493 -158 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.51729 0 Cryptic Donor Strongly Activated 140672892 3.05045 0.094788 62.6288 3.88506 0.330838 68.4074 rs112961592 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6995 Genomes transition C T C>T 0.000 -2.297 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112961592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs112961592 rs112961592 1 1538 10 1.I 0,0,0 +rs112961592 X 140672886 G A - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140672886 140672886 ChrX(GRCh37):g.140672886G>A 573-64043 573-64043 NR_037183.2:n.573-64043G>A p.? p.? 4 3 -64043 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 rs112961592 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6995 Genomes transition G A G>A 0.000 -2.297 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112961592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs112961592 rs112961592 1 1538 10 1.I 0,0,0 +. X 140677961 G A - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140677961 140677961 ChrX(GRCh37):g.140677961G>A 573-58968 573-58968 NR_037183.2:n.573-58968G>A p.? p.? 4 3 -58968 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1539 8 845 2 86 426 83 2 87 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6417688 Thyroid 0.001339 747 transition G A G>A 0.000 -14.080 201 PASS . . . . . . . . . . . ENSG00000203926:ENST00000370518:exon1:c.G67A:p.E23K SPANXA2:uc004fbo.3:exon1:c.G67A:p.E23K . . . 0.16176471 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203926 SPANXA2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.999 0.979 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . . . ENST00000370518 . . . 0.120000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . 0.120000 . . 1.0E-201 0.993 0.376 . 0.062 . . 0.242 . 0.016 . . . . . . . 1 1538 10 1/0 0,219,255 +. X 140677965 T C - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140677965 140677965 ChrX(GRCh37):g.140677965T>C 573-58964 573-58964 NR_037183.2:n.573-58964T>C p.? p.? 4 3 -58964 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1452 6 830 2 67 395 67 0 85 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -14.080 196 PASS . . . . . . . . . . . ENSG00000203926:ENST00000370518:exon1:c.T71C:p.M24T SPANXA2:uc004fbo.3:exon1:c.T71C:p.M24T . . . 0.14925373 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 134.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203926 SPANXA2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 1.000 0.994 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0.87 . . . . . . . . . . . . . . . ENST00000370518 . . . 0.380000 . . . . . . . . . . 0 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . . . 0.380000 . . 1.0E-196 0.993 0.376 . 0.090 . . 0.020 . 0.007 . . . rs1136523 rs1136523 . . 1 1538 10 1/0 0,218,255 +. X 140677973 C T - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140677973 140677973 ChrX(GRCh37):g.140677973C>T 573-58956 573-58956 NR_037183.2:n.573-58956C>T p.? p.? 4 3 -58956 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1392 6 794 2 57 393 55 2 83 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -14.080 196 PASS . . . . . . . . . . . . . . . . 0.1496063 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +. X 140677983 C T - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140677983 140677983 ChrX(GRCh37):g.140677983C>T 573-58946 573-58946 NR_037183.2:n.573-58946C>T p.? p.? 4 3 -58946 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1052 4 605 0 46 290 42 2 63 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -14.080 209 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +rs60435127 X 140678743 C G - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140678743 140678743 ChrX(GRCh37):g.140678743C>G 573-58186 573-58186 NR_037183.2:n.573-58186C>G p.? p.? 4 3 -58186 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 New Donor Site 140678742 3.52916 0.205679 74.975 rs60435127 no no 0 0.000000 0 transversion C G C>G 0.000 -14.080 200 PASS . . . . . . . . . . . ENSG00000203926:ENST00000370518:exon2:c.C202G:p.L68V SPANXA2:uc004fbo.3:exon2:c.C202G:p.L68V . . . 0.1588785 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.059 . . 107.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . . @ . . . 0.35 0.28 182 ENSG00000203926 SPANXA2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 1.000 0.998 . . 37 . 0.019 . . 0.475 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.020 . . . . . . . 0.146 . HET 1 rs60435127 . . . . . . . . . . . . . . ENST00000370518 . . . 0.680000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.680000 . . 1.0E-200 0.105 0.227 . . . . 0.199 . . . . . rs60435127 rs60435127 rs60435127 rs200540319 1 1538 10 1/0 0,228,255 +rs80314937 X 140993722 A C - MAGEC1 6812 Melanoma antigen family C1 NM_005462.4 1 4321 3429 NP_005453.2 O60732 substitution missense exon GRCh37 140993722 140993722 ChrX(GRCh37):g.140993722A>C 532 532 NM_005462.4:c.532A>C p.Ile178Leu p.Ile178Leu 4 300223 528 3' 89.6842 9.42111 0.910993 10.586 89.6842 9.42111 0.910993 10.586 0 Cryptic Acceptor Strongly Activated 140993731 0.792698 0.329546 0.904534 rs80314937 yes no Frequency 1 0.000000 0 0.001181 0.004285 0.000676 0.000202 0.000819 0.001411 0.001015 0.000860 0.000789 0.004285 128 34 10 1 6 16 51 8 2 108404 7935 14787 4940 7328 11341 50235 9303 2535 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 75 0 0 0 0 0 0 0 0 53 15 4 1 2 7 21 2 1 RF 0 Exomes+Genomes COSM4156627|COSM4156627|COSM4156627|COSM4156627 Upper aerodigestive tract|Thyroid|Large intestine|Haematopoietic and lymphoid tissue 0.005865|0.001339|0.001344|0.000277 1364|747|2232|3609 transversion A C A>C 0.299 -2.458 I Ile ATT 0.356 L Leu CTT 0.129 178 12 1 2 2 2 0 0 5.II 4.IX 111 111 5 C0 353.86 0.00 Tolerated 1 IV.32 bad 8.214E-3 0.0003309 177 PASS . . . . . . . . . . . ENSG00000155495:ENST00000285879:exon4:c.A532C:p.I178L MAGEC1:uc004fbt.3:exon4:c.A532C:p.I178L MAGEC1:NM_005462:exon4:c.A532C:p.I178L . . 0.10778443 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.070 . . 167.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Ctt|I178L|MAGEC1|mRNA|CODING|NM_005462|NM_005462.ex.4) . . . . . . . . . . . . . . . . . . . . 0.0033 0.0010 0.0006 0.0006 0 0.0007 0.0060 0.0009 0.0032 0.0009 0.0006 0 0.0004 0.0008 0.0030 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . . @ . . . 0.1 0.08 182 ENSG00000155495 MAGEC1 MAGEC1 . . . 0.001 0.075 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.052 0.003 . . 37 . 0.014 . . 0.452 . . . 0.016 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.065 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.188 . . . . . 0.125 . 0.117 . LowAF 0.51 rs80314937 . . . . . . . . . . . . IV.78 0.037313 ENST00000285879 . . . 0.380000 O60732 . . . . . 0.008 . . . 0.0030 0.0010 0.0006 0.0002 0.0009 0.0008 0.0010 0.0009 0.0014 0.0071 0.0024 0.0052 0 0 0.0011 0.0009 0 . . . . -2.499 -2.499000 . . 0.380000 . . 1.0E-177 0.000 0.063 . 0.062 0.021 . 0.038 . 0.031 -2.499 -2.138 . . . rs80314937 rs80314937 1 1538 10 1/0 0,205,255 +rs145720656 X 140993964 T A - MAGEC1 6812 Melanoma antigen family C1 NM_005462.4 1 4321 3429 NP_005453.2 O60732 substitution missense exon GRCh37 140993964 140993964 ChrX(GRCh37):g.140993964T>A 774 774 NM_005462.4:c.774T>A p.Ser258Arg p.Ser258Arg 4 300223 770 3' 89.6842 9.42111 0.910993 10.586 89.6842 9.42111 0.910993 10.586 0 rs145720656 yes no Frequency/1000G 2 0.000000 0 0.000095 0.000000 0.000098 0.000000 0.000000 0.000673 0.000017 0.000000 0.000000 0.000673 13 0 2 0 0 10 1 0 0 136430 10132 20367 5258 11308 14864 57434 14078 2989 0.153846 0.000000 0.500000 0.000000 0.000000 0.100000 0.000000 0.000000 0.000000 2 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 8 0 0 0 0 7 1 0 0 PASS 231 Exomes COSM5450948 Large intestine 0.000448 2232 transversion T A T>A 0.000 -0.037 S Ser AGT 0.149 R Arg AGA 0.205 258 12 2 Olive baboon -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0 IV.32 bad 7.023E-6 9.72E-5 198 PASS 0.07 0.03 0.06 0.0047 0.01 . . . . . . ENSG00000155495:ENST00000285879:exon4:c.T774A:p.S258R MAGEC1:uc004fbt.3:exon4:c.T774A:p.S258R MAGEC1:NM_005462:exon4:c.T774A:p.S258R . . 0.15476191 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.227 . @ . . . . . 1 0.087 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agA|S258R|MAGEC1|mRNA|CODING|NM_005462|NM_005462.ex.4) . . . . . . . . . . . . . . . . 1.726e-04 . . . 0 0.0002 0 0 0 0 0 0.0013 0 0.0002 0 0 0 0 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.019 . . exonic exonic exonic . . . @ . . . 0.13 0.06 182 ENSG00000155495 MAGEC1 MAGEC1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.009 . . 0.292 . . . 0.424 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.178 . . 0 0 0 0 0 0 . 0.228 . . 0.139 . . . . . . 0 0.912 . . . . . 0.047 . 0.620 . HET 0 rs145720656 . . . . . . . 0.0325497287522604 0.055327868852459015 0.04 0.0034965034965034965 0.006631299734748011 II.56 0.08377 . . . . 0.000000 O60732 . . . . . 0.028 . . . 0 9.529e-05 9.82e-05 0 0 0 1.741e-05 0 0.0007 . . . . . . . . . . . . 0.046 0.046000 . . 0.000000 . . 1.0E-198 0.000 0.063 . 0.043 0.007 . 0.070 . 0.269 0.046 -0.427 0.07 . . rs145720656 rs145720656 1 1538 10 1/0 0,238,255 +rs138735295 X 140993969 T C - MAGEC1 6812 Melanoma antigen family C1 NM_005462.4 1 4321 3429 NP_005453.2 O60732 substitution missense exon GRCh37 140993969 140993969 ChrX(GRCh37):g.140993969T>C 779 779 NM_005462.4:c.779T>C p.Phe260Ser p.Phe260Ser 4 300223 775 3' 89.6842 9.42111 0.910993 10.586 89.6842 9.42111 0.910993 10.586 0 rs138735295 yes no Frequency/1000G 2 0.000000 0 0.000559 0.000000 0.000152 0.000000 0.000000 0.004505 0.000168 0.000000 0.000000 0.004505 79 0 3 0 0 66 10 0 0 141437 12402 19684 5297 11302 14652 59668 15276 3156 0.000028 0.000000 0.000102 0.000000 0.000000 0.000137 0.000000 0.000000 0.000000 2 0 1 0 0 1 0 0 0 20 0 0 0 0 0 0 0 0 55 0 0 0 0 49 6 0 0 RF 0 Exomes+Genomes COSM4699924 Large intestine 0.001344 2232 transition T C T>C 0.000 0.367 F Phe TTT 0.454 S Ser TCT 0.185 260 12 1 -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 353.86 0.00 Tolerated 0.32 IV.32 bad 2.736E-4 0.0003092 197 PASS 0.07 0.03 0.06 0.01 0.02 . . . . . . ENSG00000155495:ENST00000285879:exon4:c.T779C:p.F260S MAGEC1:uc004fbt.3:exon4:c.T779C:p.F260S MAGEC1:NM_005462:exon4:c.T779C:p.F260S . . 0.15189873 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.010 . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tCt|F260S|MAGEC1|mRNA|CODING|NM_005462|NM_005462.ex.4) . . . . . . . . . . . . . . . . 9.721e-04 . . . 0 0.0011 0.0005 0 0 0.0001 0 0.0063 0 0.0011 0.0005 0 0 0.0004 0 0.0063 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.024 . . exonic exonic exonic . . . @ . . . 0.11 0.06 182 ENSG00000155495 MAGEC1 MAGEC1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.059 0.003 . . 37 . 0.008 . . 0.437 . . . 0.339 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.151 . . 0.013 . . . . . . 0 0.132 . . . . . 0.111 . 0.590 . HET 0 rs138735295 . . . . . . . 0.03375527426160337 0.05327868852459016 0.04 0.005244755244755245 0.009283819628647215 IV.59 0.056264 . . . . 0.540000 O60732 . . . . . 0.024 . . . 0 0.0006 0.0002 0 0 0 0.0001 0 0.0045 0 0.0002 0 0 0 0 0.0005 0 . . . . 0.046 0.046000 . . 0.540000 . . 1.0E-197 0.000 0.063 . 0.043 0.026 . 0.060 . 0.005 0.046 0.643 0.07 . . rs138735295 rs138735295 1 1538 10 1/0 0,241,255 +rs144495362 X 140993982 C A - MAGEC1 6812 Melanoma antigen family C1 NM_005462.4 1 4321 3429 NP_005453.2 O60732 substitution synonymous exon GRCh37 140993982 140993982 ChrX(GRCh37):g.140993982C>A 792 792 NM_005462.4:c.792C>A p.Ala264= p.Ala264Ala 4 300223 788 3' 89.6842 9.42111 0.910993 10.586 89.6842 9.42111 0.910993 10.586 0 rs144495362 yes no Frequency/1000G 2 0.000000 0 0.000577 0.000000 0.000363 0.000000 0.000000 0.004233 0.000201 0.000000 0.000000 0.004233 81 0 7 0 0 62 12 0 0 140307 11828 19271 5346 11114 14647 59810 15171 3120 0.000043 0.000000 0.000104 0.000000 0.000000 0.000137 0.000033 0.000000 0.000000 3 0 1 0 0 1 1 0 0 23 0 0 0 0 0 0 0 0 52 0 1 0 0 45 6 0 0 RF 0 Exomes+Genomes COSM5450953 Large intestine 0.000448 2232 transversion C A C>A 0.008 0.125 A Ala GCC 0.403 A Ala GCA 0.226 264 239 PASS 0.07 0.03 0.06 0.01 0.02 . . . . . . ENSG00000155495:ENST00000285879:exon4:c.C792A:p.A264A MAGEC1:uc004fbt.3:exon4:c.C792A:p.A264A MAGEC1:NM_005462:exon4:c.C792A:p.A264A . . 0.27272728 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 77.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcA|A264|MAGEC1|mRNA|CODING|NM_005462|NM_005462.ex.4) . . . . . . . . . . . . . . . . 1.112e-03 . . . 0.0002 0.0012 0.0006 0.0003 0 0.0005 0.0039 0.0053 0.0002 0.0012 0.0007 0.0002 0 0.0007 0 0.0053 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.09 0.06 182 ENSG00000155495 MAGEC1 MAGEC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144495362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0004 0 0 0 0.0002 0 0.0042 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . 0.07 . . rs144495362 rs144495362 1 1538 10 1/0 0,252,255 +rs879953135 (chrX:145891283 G/C) X 145891283 G C Not on a known gene +rs1028509 X 145896268 C G - CXorf51A 30533 Chromosome X open reading frame 51A NM_001144064.2 -1 438 327 NP_001137536.1 substitution upstream GRCh37 145896268 145896268 ChrX(GRCh37):g.145896268C>G -27 -27 NM_001144064.2:c.-27G>C p.? p.? 1 -159 5' 90.0021 8.68007 0.941685 5.31449 90.0021 8.68007 0.941685 5.31449 0 rs1028509 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 0.205 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 130.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.67 0.31 182 ENSG00000224440 CXorf51A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.283 0.312 . . . . . . . . . . . . . . . . . . . . Name\x3desv27791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.28 rs1028509 rs1028509 rs1028509 rs1028509 1 1538 255 1.I 0,0,255 +rs1028509 X 145896268 C G - CXorf51B 42787 Chromosome X open reading frame 51B NM_001244892.1 -1 438 327 NP_001231821.1 substitution upstream GRCh37 145896268 145896268 ChrX(GRCh37):g.145896268C>G -27 -27 NM_001244892.1:c.-27G>C p.? p.? 1 -159 5' 90.0021 8.68007 0.941685 5.31449 90.0021 8.68007 0.941685 5.31449 0 rs1028509 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 0.205 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 130.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.67 0.31 182 ENSG00000224440 CXorf51A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.283 0.312 . . . . . . . . . . . . . . . . . . . . Name\x3desv27791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.28 rs1028509 rs1028509 rs1028509 rs1028509 1 1538 255 1.I 0,0,255 +rs1270092 X 147003564 T C - FMR1 3775 Fragile X mental retardation 1 NM_002024.5 1 4411 1899 NP_002015.1 Q06787 substitution intron GRCh37 147003564 147003564 ChrX(GRCh37):g.147003564T>C 104+61 104+61 NM_002024.5:c.104+61T>C p.? p.? 2 2 309550 61 5' 87.864 10.0774 0.994223 1.03509 87.864 10.0774 0.994223 0.996185 0 rs1270092 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999954 0.999832 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 21669 5965 596 187 1040 0 10609 2557 715 21670 5966 596 187 1040 0 10609 2557 715 0.319443 0.311148 0.348993 0.224599 0.268269 0.000000 0.315770 0.365663 0.352448 6922 1856 208 42 279 0 3350 935 252 0 0 0 0 0 0 0 0 0 7825 2253 180 103 482 0 3909 687 211 PASS 43 Genomes transition T C T>C 0.000 -3.507 111 PASS 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 1.0 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.0000 . . . 0.38 0.24 182 ENSG00000102081 FMR1-AS1 FMR1 . uc011mwy.1:c.-71A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.739 0.739 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7141 . . . . . . . . . . . . . . . 0.9998 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1270092 rs1270092 rs1270092 rs1270092 1 1538 255 1.I 0,0,255 +rs1270092 X 147003564 T C - FMR1-AS1 39081 FMR1 antisense RNA 1 NR_024499.1 -1 3026 0 substitution exon GRCh37 147003564 147003564 ChrX(GRCh37):g.147003564T>C 113 113 NR_024499.1:n.113A>G 1 300805 -113 5' 0 0 0 0 0 0 0 0 0 rs1270092 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999954 0.999832 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 21669 5965 596 187 1040 0 10609 2557 715 21670 5966 596 187 1040 0 10609 2557 715 0.319443 0.311148 0.348993 0.224599 0.268269 0.000000 0.315770 0.365663 0.352448 6922 1856 208 42 279 0 3350 935 252 0 0 0 0 0 0 0 0 0 7825 2253 180 103 482 0 3909 687 211 PASS 43 Genomes transition A G A>G 0.000 -3.507 111 PASS 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 1.0 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.0000 . . . 0.38 0.24 182 ENSG00000102081 FMR1-AS1 FMR1 . uc011mwy.1:c.-71A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.739 0.739 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7141 . . . . . . . . . . . . . . . 0.9998 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1270092 rs1270092 rs1270092 rs1270092 1 1538 255 1.I 0,0,255 +rs375802594 X 147582594 G A - AFF2 3776 AF4/FMR2 family, member 2 NM_002025.3 1 13746 3936 NP_002016.2 P51816 substitution 5'UTR GRCh37 147582594 147582594 ChrX(GRCh37):g.147582594G>A -24 -24 NM_002025.3:c.-24G>A p.? p.? 1 300806 -71 5' 78.3536 7.22905 0.768775 5.48367 78.3536 7.22905 0.768775 5.393 0 rs375802594 yes no Frequency/1000G 2 G 0.000000 0 0.000265 0.000000 0.000000 0.000000 0.001300 0.000000 0.000135 0.000000 0.000000 0.000000 0.000000 0.000000 0.000290 0.000000 0.000217 0.000290 26 0 0 0 0 0 25 0 1 192305 17299 26930 7404 13738 19002 86223 17107 4602 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 0 0 0 0 0 0 0 10 0 0 0 0 0 9 0 1 PASS 0 Exomes+Genomes 6721 3824 10545 4 1 5 0.000594796 0.000261438 0.000473934 0.000594796 0.000261438 0.000473934 50 transition G A G>A 0.000 0.044 255 PASS . . . . . . 0.0003 . . 0.001 . . . . . . 0.45054945 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . 0.0003 0.0005 0.0006 0.0003 0.0005 0.0006 . . . . . . . . . . 1.028e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 9.76e-05 0 0 0 0.0002 0 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0003 . . . 0.68 0.48 182 ENSG00000155966 AFF2 AFF2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv523386 0.000474 . . . . . 0 0.0001 0 0 0 0 0.0003 0.0003 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs375802594 rs375802594 1 1538 10 1/0 0,255,255 +. X 147733265 G GA - AFF2 3776 AF4/FMR2 family, member 2 NM_002025.3 1 13746 3936 NP_002016.2 P51816 duplication intron GRCh37 147733266 147733267 ChrX(GRCh37):g.147733266dup 48-254 48-254 NM_002025.3:c.48-254dup p.? p.? 2 1 300806 -253 3' 84.7458 6.88341 0.774694 5.23163 84.7458 6.88341 0.774694 5.23163 0 rs5904246 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999953 1.000000 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 0.998609 1.000000 21372 5800 605 189 1026 0 10448 2586 718 21373 5800 605 189 1026 0 10448 2586 719 0.323695 0.319828 0.343802 0.222222 0.271930 0.000000 0.320061 0.362336 0.352368 6918 1855 208 42 279 0 3344 937 253 0 0 0 0 0 0 0 0 0 7536 2090 189 105 468 0 3760 712 212 PASS 42 Genomes A 255 Pass 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 0.8695652 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000155966 AFF2 AFF2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7142 . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1 0.9986 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs5904246 rs5904246 rs5904246 1 1538 10 1.I 0,5,6 +. X 148615593 C T - LINC00893 44265 Long intergenic non-protein coding RNA 893 NR_027455.5 -1 2348 0 substitution exon GRCh37 148615593 148615593 ChrX(GRCh37):g.148615593C>T 835 835 NR_027455.5:n.835G>A 6 314 3' 82.5081 9.60947 0.991308 IX.01 82.5081 9.60947 0.991308 IX.01 0 0.001458 0.000149 0.002059 0.000000 0.000000 0.000000 0.001628 0.007471 0.000906 0.007471 107 1 34 0 0 0 43 27 2 73400 6702 16515 2836 7178 7932 26416 3614 2207 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000553 0.000000 1 0 0 0 0 0 0 1 0 73 0 0 0 0 0 0 0 0 32 0 14 0 0 0 12 6 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.044 205 PASS . . . . . . . . . . . . LINC00893:uc011mxl.1:exon3:c.G368A:p.G123E . . . 0.17333333 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 75.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G279R|LINC00893|Non-coding_transcript|NON_CODING|NR_027455|NR_027455.ex.6) . . . . . . . . . . . . . . . . 5.112e-04 . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.49 0.09 182 ENSG00000241769 LINC00893 LINC00893 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0012 0.0021 0 0 0.0060 0.0014 0.0011 0 0 0.0031 0 0 0 0.0089 0.0029 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs2855996 rs2855996 1 1538 10 1/0 0,245,255 +. X 148674639 G A - HSFX1 29603 Heat shock transcription factor family, X linked 1 NM_016153.2 -1 1955 1272 NP_057237.1 Q9UBD0 substitution synonymous exon GRCh37 148674639 148674639 ChrX(GRCh37):g.148674639G>A 885 885 NM_016153.2:c.885C>T p.Ala295= p.Ala295Ala 2 321 3' 77.102 4.21735 0.655653 0 77.102 4.21735 0.655653 0 0 transition C T C>T 0.000 -0.037 A Ala GCC 0.403 A Ala GCT 0.263 295 238 PASS . . . . . . . . . . . ENSG00000171129:ENST00000524178:exon2:c.C885T:p.A295A HSFX2:uc022cgk.1:exon2:c.C885T:p.A295A . . . 0.26616916 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 402.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000171129 HSFX2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,251 +. X 148674639 G A - HSFX2 32701 Heat shock transcription factor family, X-linked 2 NM_001164415.2 -1 1962 1272 NP_001157887.1 Q9UBD0 substitution synonymous exon GRCh37 148674639 148674639 ChrX(GRCh37):g.148674639G>A 885 885 NM_001164415.2:c.885C>T p.Ala295= p.Ala295Ala 2 321 3' 77.102 4.21735 0.655653 0 77.102 4.21735 0.655653 0 0 transition C T C>T 0.000 -0.037 A Ala GCC 0.403 A Ala GCT 0.263 295 238 PASS . . . . . . . . . . . ENSG00000171129:ENST00000524178:exon2:c.C885T:p.A295A HSFX2:uc022cgk.1:exon2:c.C885T:p.A295A . . . 0.26616916 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 402.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000171129 HSFX2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,251 +rs2071188 X 148675915 G A - HSFX1 29603 Heat shock transcription factor family, X linked 1 NM_016153.2 -1 1955 1272 NP_057237.1 Q9UBD0 substitution missense exon GRCh37 148675915 148675915 ChrX(GRCh37):g.148675915G>A 446 446 NM_016153.2:c.446C>T p.Ser149Leu p.Ser149Leu 1 -119 5' 82.2818 8.99306 0.968682 9.09505 82.2818 8.99306 0.968682 9.09505 0 rs2071188 no no 0 0.000000 0 transition C T C>T 0.000 -0.763 S Ser TCG 0.056 L Leu TTG 0.127 149 12 5 Tetraodon -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 221.66 57.56 Tolerated 0.06 II.58 good 1.667E-2 0.01201 245 PASS . . . . . . . . . . . . HSFX2:uc022cgk.1:exon1:c.C446T:p.S149L . . . 0.29054055 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.192 . . 148.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.907 . . exonic exonic exonic . . 0.063 @ . . . 0.42 0.39 182 ENSG00000171129 HSFX2 . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.056 . . . . D 0.953 0.510 . . 37 . 0.853 . . 0.668 . . . 0.334 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.119 . . 0.080 . . . . . . 3 . . . . . . 0.087 . 0.331 . HET 0.05 rs2071188 . . . . . . . . . . . . III.99 . ENST00000524178 II.94 -2.34 . 0.090000 Q9UBD0 . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . . . -1.102 -1.102000 . . 0.090000 . . 1.0E-245 0.000 0.063 . 0.016 0.043 . 0.036 . 0.014 -1.102 -0.960 . rs2071188 rs2071188 rs2071188 rs2071188 1 1538 10 1/0 0,226,255 +rs2071188 X 148675915 G A - HSFX2 32701 Heat shock transcription factor family, X-linked 2 NM_001164415.2 -1 1962 1272 NP_001157887.1 Q9UBD0 substitution missense exon GRCh37 148675915 148675915 ChrX(GRCh37):g.148675915G>A 446 446 NM_001164415.2:c.446C>T p.Ser149Leu p.Ser149Leu 1 -119 5' 82.2818 8.99306 0.968682 9.09505 82.2818 8.99306 0.968682 9.09505 0 Heat shock factor (HSF)-type, DNA-binding rs2071188 no no 0 0.000000 0 transition C T C>T 0.000 -0.763 S Ser TCG 0.056 L Leu TTG 0.127 149 12 6 Chicken -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 254.51 IX.71 Tolerated 0.15 II.93 245 PASS . . . . . . . . . . . . HSFX2:uc022cgk.1:exon1:c.C446T:p.S149L . . . 0.29054055 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.192 . . 148.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.907 . . exonic exonic exonic . . 0.063 @ . . . 0.42 0.39 182 ENSG00000171129 HSFX2 . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.056 . . . . D 0.953 0.510 . . 37 . 0.853 . . 0.668 . . . 0.334 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.119 . . 0.080 . . . . . . 3 . . . . . . 0.087 . 0.331 . HET 0.05 rs2071188 . . . . . . . . . . . . III.99 . ENST00000524178 II.94 -2.34 . 0.090000 Q9UBD0 . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . . . -1.102 -1.102000 . . 0.090000 . . 1.0E-245 0.000 0.063 . 0.016 0.043 . 0.036 . 0.014 -1.102 -0.960 . rs2071188 rs2071188 rs2071188 rs2071188 1 1538 10 1/0 0,226,255 +rs2071187 X 148676307 T C - HSFX1 29603 Heat shock transcription factor family, X linked 1 NM_016153.2 -1 1955 1272 NP_057237.1 Q9UBD0 substitution synonymous exon GRCh37 148676307 148676307 ChrX(GRCh37):g.148676307T>C 54 54 NM_016153.2:c.54A>G p.Arg18= p.Arg18Arg 1 -511 5' 82.2818 8.99306 0.968682 9.09505 82.2818 8.99306 0.968682 9.09505 0 rs2071187 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.440 R Arg AGA 0.205 R Arg AGG 0.207 18 255 PASS . . . . . . . . . . . . HSFX2:uc022cgk.1:exon1:c.A54G:p.R18R . . . 0.7894737 . . @ 135 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 171.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.39 182 ENSG00000171129 HSFX2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2071187 rs2071187 rs2071187 rs200199452 1 1538 10 1/0 0,250,247 +rs2071187 (chrX:148676307 T/C) X 148676307 T C Transcript NM_001164415.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) HSFX2 +rs2071187 X 148676307 T C - TMEM185A 17125 Transmembrane protein 185A NM_032508.2 -1 2732 1053 NP_115897.1 Q8NFB2 substitution downstream GRCh37 148676307 148676307 ChrX(GRCh37):g.148676307T>C *3364 *3364 NM_032508.2:c.*3364A>G p.? p.? 7 300031 3609 3' 98.6259 8.94799 0.898777 1.0523 98.6259 8.94799 0.898777 1.0523 0 rs2071187 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . . HSFX2:uc022cgk.1:exon1:c.A54G:p.R18R . . . 0.7894737 . . @ 135 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 171.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.39 182 ENSG00000171129 HSFX2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2071187 rs2071187 rs2071187 rs200199452 1 1538 10 1/0 0,250,247 +rs199726714 X 148682039 T C - TMEM185A 17125 Transmembrane protein 185A NM_032508.2 -1 2732 1053 NP_115897.1 Q8NFB2 substitution synonymous exon GRCh37 148682039 148682039 ChrX(GRCh37):g.148682039T>C 612 612 NM_032508.2:c.612A>G p.Ala204= p.Ala204Ala 5 300031 -73 5' 91.1667 9.84565 0.998431 XII.28 91.1667 9.84565 0.998431 13.0677 0 Transmembrane Fragile-X-F-associated protein rs199726714 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM3681658 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.575 -1.651 A Ala GCA 0.226 A Ala GCG 0.107 204 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 235 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 235.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.66 182 ENSG00000155984 TMEM185A TMEM185A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . II.77 . ENST00000502858 III.96 -2.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.083 -1.083000 . . . . . 1.0E-111 . . . . . . . . . -1.083 . 0.011 . rs2071186 rs2071186 rs199726714 1 1538 255 1.I 0,0,255 +rs200063215 X 148850662 A G - TMEM185AP1 31717 Transmembrane protein 185A pseudogene 1 ENST00000524311.1 1 546 0 substitution exon GRCh37 148850662 148850662 ChrX(GRCh37):g.148850662A>G 105 105 ENST00000524311.1:n.105A>G 1 -73 5' 91.1667 9.84565 0.998431 XII.28 91.1667 9.84565 0.998431 13.0677 0 rs200063215 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition A G A>G 0.449 -2.297 111 PASS . . . . . . . . . . . . TMEM185A:uc011mxr.1:exon1:c.A78G:p.A26A . . . 1.0 . . @ 290 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 290.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.69 0.49 182 ENSG00000235254 TMEM185A . . . dist\x3d51734\x3bdist\x3d5064 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.011 . rs2071186 rs2071186 rs200063215 1 1538 255 1.I 0,0,255 +rs201561571 (chrX:148856393 A/G) X 148856393 A G Not on a known gene +rs201098724 (chrX:148856785 C/T) X 148856785 C T Not on a known gene +. (chrX:148858061 C/T) X 148858061 C T Not on a known gene +. X 149114412 T TCTC - LINC00894 48579 Long intergenic non-protein coding RNA 894 NR_027456.1 1 3182 0 insertion exon GRCh37 149114414 149114415 ChrX(GRCh37):g.149114414_149114415insCCT 1093 1094 NR_027456.1:n.1093_1094insCCT 6 339 3' 82.5081 9.60947 0.991308 8.91109 82.5081 9.60947 0.991308 8.91109 0 0.006561 0.007671 0.007722 0.000000 0.004785 0.000000 0.009067 0.000579 0.017167 0.009067 43 11 2 0 1 0 24 1 4 6554 1434 259 46 209 0 2647 1726 233 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes CCT 255 Pass . . . . . . . . . . . . . . . . 0.26923078 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 52 . . CODON_INSERTION(MODERATE||ttc/ttCTCc|F364FS|LINC00894|Non-coding_transcript|NON_CODING|NR_027456|NR_027456.ex.6) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . . . . . . . . ENSG00000235703 LINC00894 LINC00894 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv525908 . . . . . . . . . . . . . . . 0.0077 0.0066 0.0077 0 0.0048 0.0006 0.0091 0.0172 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,57 +rs5924687 X 150911513 T C - CNGA2 2149 Cyclic nucleotide gated channel alpha 2 NM_005140.1 1 3285 1995 NP_005131.1 Q16280 substitution intron GRCh37 150911513 150911513 ChrX(GRCh37):g.150911513T>C 590-52 590-52 NM_005140.1:c.590-52T>C p.? p.? 7 6 300338 -52 3' 83.5903 9.04658 0.973209 6.94756 83.5903 9.04658 0.973209 6.81547 0 rs5924687 yes no Frequency/1000G 2 0.000000 0 0.984371 0.992000 0.994400 0.972500 0.975200 0.986600 transition T C T>C 0.000 0.851 111 PASS . . . . . 0.75 0.98 0.74 0.74 0.74 0.73 . . . . . 1.0 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 7.0 . . INTRON(MODIFIER||||CNGA2|mRNA|CODING|NM_005140|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0156 . . . 0.22 0.21 182 ENSG00000183862 CNGA2 CNGA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs5924687 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv518142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs5924687 rs5924687 rs5924687 rs5924687 1 1538 255 1.I 0,0,255 +. X 151877377 C T - CSAG2 16847 CSAG family, member 2 NM_001080848.2 -1 847 384 NP_001074317.2 Q9Y5P2 substitution missense exon GRCh37 151877377 151877377 ChrX(GRCh37):g.151877377C>T 218 218 NM_001080848.2:c.218G>A p.Arg73Gln p.Arg73Gln 1 -97 5' 65.2648 0 0.044207 1.73727 65.2648 0 0.044207 1.73727 0 transition G A G>A 0.028 -0.521 R Arg CGA 0.110 Q Gln CAA 0.256 73 1 1 1 0.65 0.89 10.V 10.V 124 85 43 244 PASS . . . . . . . . . . . . . . . . 0.2867647 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000197463 CSAG2 CSAG3 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +. X 151877377 C T - CSAG3 26237 CSAG family, member 3 NM_001129826.2 -1 847 384 NP_001123298.1 Q9Y5P2 substitution missense exon GRCh37 151877377 151877377 ChrX(GRCh37):g.151877377C>T 218 218 NM_001129826.2:c.218G>A p.Arg73Gln p.Arg73Gln 1 -97 5' 65.2648 0 0.044207 1.73727 65.2648 0 0.044207 1.73727 0 transition G A G>A 0.028 -0.521 R Arg CGA 0.110 Q Gln CAA 0.256 73 1 1 1 0.65 0.89 10.V 10.V 124 85 43 244 PASS . . . . . . . . . . . . . . . . 0.2867647 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000197463 CSAG2 CSAG3 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs879996665 X 151877408 C T - CSAG2 16847 CSAG family, member 2 NM_001080848.2 -1 847 384 NP_001074317.2 Q9Y5P2 substitution missense exon GRCh37 151877408 151877408 ChrX(GRCh37):g.151877408C>T 187 187 NM_001080848.2:c.187G>A p.Ala63Thr p.Ala63Thr 1 -128 5' 65.2648 0 0.044207 1.73727 65.2648 0 0.044207 1.73727 0 rs879996665 no no 0 C 0.000000 0 COSM4002277 Haematopoietic and lymphoid tissue 0.001133 3530 transition G A G>A 0.000 -1.409 A Ala GCT 0.263 T Thr ACT 0.243 63 0 0 0 0 0.71 8.I 8.VI 31 61 58 210 PASS . . . . . . . . . . . . . . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.56 0.3 182 ENSG00000197463 CSAG2 CSAG3 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . rs1894362 rs1894362 rs1894362 rs1894362 1 1538 10 1/0 0,217,255 +rs879996665 X 151877408 C T - CSAG3 26237 CSAG family, member 3 NM_001129826.2 -1 847 384 NP_001123298.1 Q9Y5P2 substitution missense exon GRCh37 151877408 151877408 ChrX(GRCh37):g.151877408C>T 187 187 NM_001129826.2:c.187G>A p.Ala63Thr p.Ala63Thr 1 -128 5' 65.2648 0 0.044207 1.73727 65.2648 0 0.044207 1.73727 0 rs879996665 no no 0 C 0.000000 0 COSM4002277 Haematopoietic and lymphoid tissue 0.001133 3530 transition G A G>A 0.000 -1.409 A Ala GCT 0.263 T Thr ACT 0.243 63 0 0 0 0 0.71 8.I 8.VI 31 61 58 210 PASS . . . . . . . . . . . . . . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.56 0.3 182 ENSG00000197463 CSAG2 CSAG3 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . rs1894362 rs1894362 rs1894362 rs1894362 1 1538 10 1/0 0,217,255 +rs182694662 X 151896605 C T - CSAG4 20923 CSAG family member 4 (pseudogene) NR_073432.1 -1 755 0 substitution exon GRCh37 151896605 151896605 ChrX(GRCh37):g.151896605C>T 336 336 NR_073432.1:n.336G>A 3 -46 5' 87.5642 8.40856 0.990429 6.33249 87.5642 8.40856 0.990429 6.12386 0 rs182694662 yes no Frequency/1000G 2 0.000000 0 0.001060 0.000000 0.000000 0.000000 0.002600 0.003800 0.001837 0.000523 0.000000 0.000000 0.000000 0.000000 0.002616 0.001888 0.005587 0.002616 39 3 0 0 0 0 27 5 4 21232 5735 607 181 1025 0 10320 2648 716 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 0 0 0 0 0 0 0 0 12 1 0 0 0 0 8 2 1 PASS 43 Genomes transition G A G>A 0.008 -1.005 255 PASS . 0.0024 0.01 . 0.0034 . 0.0011 0.0029 . 0.002 . . . . . . 0.44715446 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0011 . . . 0.25 0.05 182 ENSG00000242599 CSAG4 CSAG4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs182694662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0018 0 0 0 0.0019 0.0026 0.0056 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs182694662 rs182694662 1 1538 10 1/0 0,244,255 +rs1894362 (chrX:151928073 G/A) X 151928073 G A Not on a known gene +. (chrX:151928104 G/A) X 151928104 G A Not on a known gene +. X 153174819 T TG - ARHGAP4 674 Rho GTPase activating protein 4 NM_001164741.1 -1 3372 2961 NP_001158213.1 duplication intron GRCh37 153174819 153174820 ChrX(GRCh37):g.153174820dup 2627+77 2627+77 NM_001164741.1:c.2627+77dup p.? p.? 21 21 300023 77 5' 80.9448 8.68617 0.992559 10.1618 80.9448 8.68617 0.992559 10.1415 0 rs11394527 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999953 0.999830 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 21260 5892 614 180 1023 0 10197 2652 702 21261 5893 614 180 1023 0 10197 2652 702 0.325071 0.314155 0.338762 0.233333 0.273705 0.000000 0.327645 0.353318 0.358974 6911 1851 208 42 280 0 3341 937 252 1 0 0 0 0 0 0 0 0 7437 2189 198 96 463 0 3515 778 198 PASS 49 Genomes C 255 Pass 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 0.9807692 . . . 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000089820 ARHGAP4 ARHGAP4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11394527 rs11394527 rs11394527 1 1538 255 1.I 0,0,255 +rs144427741 X 153735235 G A - FAM3A 13749 Family with sequence similarity 3, member A NM_001282311.1 -1 1913 735 NP_001269240.1 substitution synonymous exon GRCh37 153735235 153735235 ChrX(GRCh37):g.153735235G>A 642 642 NM_001282311.1:c.642C>T p.His214= p.His214His 10 300492 3 3' 76.6995 X.95 0.979165 14.7688 76.6995 X.77 0.971933 14.5615 -0.00834468 rs144427741 yes no Frequency/1000G 2 G 0.000000 0 0.000530 0.001000 0.001400 0.000000 0.000000 0.000000 0.000077 0.000223 0.000000 0.000000 0.000000 0.000108 0.000091 0.000000 0.000213 0.000223 15 4 0 0 0 2 8 0 1 195283 17952 26910 7408 13653 18470 87713 18481 4696 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 PASS 0 Exomes+Genomes 6728 3833 10561 0 2 2 0 0.000521512 0.00018934 0 0.000521512 0.00018934 108 transition C T C>T 0.622 -0.924 H His CAC 0.587 H His CAT 0.413 214 255 PASS . . . . . 0.0008 0.0005 . . . 0.001 . . . . . 0.43165466 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . . 0.0005 0.0002 . 0.0005 0.0002 . . . . . . . . . . . 7.899e-05 . . . 0.0005 0.0001 0 0 0 8.194e-05 0 0 0.0006 9.725e-05 0 0 0 6.449e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0005 . . . 0.32 0.43 182 ENSG00000071889 FAM3A FAM3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000189 . . . . . 0.0003 8.065e-05 0 0 0 0 0.0001 0 0.0001 0 4.608e-05 0 0 0 0 0 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs144427741 rs144427741 1 1538 10 1/0 0,239,255 +rs202122673 X 153760419 G A - G6PD 4057 Glucose-6-phosphate dehydrogenase NM_000402.4 -1 2396 1638 NP_000393.4 substitution missense exon GRCh37 153760419 153760419 ChrX(GRCh37):g.153760419G>A 1531 1531 NM_000402.4:c.1531C>T p.Pro511Ser p.Pro511Ser 12 305900 -17 5' 90.6189 10.0684 0.978717 7.132 90.6189 10.0684 0.978717 7.40923 0 Glucose-6-phosphate dehydrogenase, C-terminal Glucose-6-phosphate dehydrogenase rs202122673 yes no Frequency 1 G 0.000000 0 0.000055 0.000056 0.000000 0.000000 0.000000 0.000105 0.000089 0.000000 0.000000 0.000105 11 1 0 0 0 2 8 0 0 198571 18006 27124 7435 13847 18975 89476 18971 4737 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 0 0 0 5 1 0 0 0 2 2 0 0 PASS 0 Exomes+Genomes COSM3559795 Skin 0.000812 1232 transition C T C>T 0.992 0.448 P Pro CCC 0.328 S Ser TCC 0.220 511 12 6 Platypus -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 258.32 0.00 Tolerated 0.69 III.35 255 PASS . . . . . . . . . . . . . . . . 0.44927537 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.216 . @ . . . . . 1 0.289 . . 69.0 . . . . . . . . . . . . . . . . . . . 3.948e-05 . . . 0 6.934e-05 0 0 0 0.0001 0 0.0001 0 4.331e-05 0 0 0 5.646e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.998 . . exonic exonic exonic . . 0.251 @ . . . 0.23 0.21 182 ENSG00000160211 G6PD G6PD . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.343 . . . . D 0.975 0.694 . . 37 . 0.989 . . 0.999 . . . 0.459 0.373 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.728 . . 0 0 0 0 0 0 . 0.186 . . 0.170 . . . . . . 0 0.349 . . . . . 0.196 . 0.276 . HET 0.06 . . . . . . . . . . . . . 6.1887 . . 5.VII I.96 . 0.150000 . . . . . . 0.413 . . . 0 5.08e-05 0 0 0 0 8.842e-05 0 0.0001 0.0002 9.339e-05 0 0 0 0 9.7e-05 0 . . . . 0.305 0.305000 . . 0.150000 . . 1.0E-255 1.000 0.715 . 0.466 0.954 . 0.462 . 0.663 0.305 0.913 . . . rs202122673 rs202122673 1 1538 10 1/0 0,255,255 +. X 153869683 CA C - IKBKGP1 24455 Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1 ENST00000453062.1 -1 1075 0 deletion intron GRCh37 153869684 153869684 ChrX(GRCh37):g.153869684del 727+75 727+75 ENST00000453062.1:n.727+75del p.? p.? 5 5 75 5' 90.6189 10.0684 0.98919 XII.01 90.6189 10.0684 0.98919 XII.15 0 T 255 Pass . . . . . . . . . . . . . . . . 0.21428572 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 56 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . . . . . . . . ENSG00000224882 IKBKG . . . dist\x3d8236\x3bdist\x3d10562 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,67 +. (chrX:154583795 G/A) X 154583795 G A Not on a known gene +. (chrX:155251822 G/A) X 155251822 G A No Alamut gene - other known genes: WASH6P WASH6P +. X 155256421 T A - DDX11L16 37115 DEAD/H-box helicase 11 like 16 NR_110561.1 -1 1643 0 substitution exon GRCh37 155256421 155256421 ChrX(GRCh37):g.155256421T>A 545 545 NR_110561.1:n.545A>T 3 82 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 0.000846 0.000000 0.000000 0.000000 0.000000 0.000000 0.001613 0.000000 0.000000 0.001613 1 0 0 0 0 0 1 0 0 1182 248 36 8 228 0 620 16 26 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 106 Genomes transversion A T A>T 1.000 1.981 218 PASS . . . . . . . . . . . . . . . . 0.20714286 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 140.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aTg|K182M|DDX11L16|Non-coding_transcript|NON_CODING|NR_110561|NR_110561.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.32 182 ENSG00000227159 DDX11Lfamilymember DDX11L16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0 0 0 0 0.0016 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . rs71249500 rs28532600 rs28532600 1 1538 10 1/0 0,221,255 +. X 155256452 A G - DDX11L16 37115 DEAD/H-box helicase 11 like 16 NR_110561.1 -1 1643 0 substitution exon GRCh37 155256452 155256452 ChrX(GRCh37):g.155256452A>G 514 514 NR_110561.1:n.514T>C 3 51 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 Cryptic Acceptor Weakly Activated 155256449 0.001943 65.402 0.162297 0.001205 71.5787 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1920 462 58 16 326 0 970 30 58 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 72 Genomes transition T C T>C 0.992 0.367 194 PASS . . . . . . . . . . . . . . . . 0.1440678 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 118.0 . . STOP_LOST(HIGH|MISSENSE|Tag/Cag|*172Q|DDX11L16|Non-coding_transcript|NON_CODING|NR_110561|NR_110561.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.31 182 ENSG00000227159 DDX11Lfamilymember DDX11L16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs78041349 rs78041349 1 1538 10 1/0 0,222,255 +. X 155256453 A G - DDX11L16 37115 DEAD/H-box helicase 11 like 16 NR_110561.1 -1 1643 0 substitution exon GRCh37 155256453 155256453 ChrX(GRCh37):g.155256453A>G 513 513 NR_110561.1:n.513T>C 3 50 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1942 480 58 18 328 0 968 36 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 71 Genomes transition T C T>C 0.992 0.367 184 PASS . . . . . . . . . . . . . . . . 0.12096774 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D171|DDX11L16|Non-coding_transcript|NON_CODING|NR_110561|NR_110561.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.62 0.3 182 ENSG00000227159 DDX11Lfamilymember DDX11L16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . rs74713238 rs74713238 1 1538 10 1/0 0,218,255 +rs7357887 X 155257601 G T - DDX11L16 37115 DEAD/H-box helicase 11 like 16 NR_110561.1 -1 1643 0 substitution exon GRCh37 155257601 155257601 ChrX(GRCh37):g.155257601G>T 248 248 NR_110561.1:n.248C>A 1 -107 5' 78.9497 9.09184 0.971166 4.41927 78.9497 9.09184 0.971166 4.41927 0 0.000490 0.001477 0.001908 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.001908 7 5 1 0 0 0 1 0 0 14280 3386 524 108 1356 0 7534 980 392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 31 Genomes transversion C A C>A 0.016 -1.812 221 PASS . . . . . . . . . . . . . . . . 0.21621622 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 74.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S83Y|DDX11L16|Non-coding_transcript|NON_CODING|NR_110561|NR_110561.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.63 0.08 182 ENSG00000227159 DDX11Lfamilymember DDX11L16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0005 0.0019 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs7357887 rs7357887 rs7357887 rs7357887 1 1538 10 1/0 0,250,255 +rs9785927 (chrY:150860 T/C) Y 150860 T C No Alamut gene - other known genes: NAP1L1P2 NAP1L1P2 +rs6644980 (chrY:155373 A/G) Y 155373 A G Not on a known gene +rs28594653 (chrY:174593 T/C) Y 174593 T C Not on a known gene +rs4072364 (chrY:178976 G/C) Y 178976 G C Not on a known gene +rs62580113 (chrY:179137 A/G) Y 179137 A G Not on a known gene +rs1140798 (chrY:179542 G/A) Y 179542 G A Not on a known gene +rs1133535 (chrY:245069 A/G) Y 245069 A G Not on a known gene +rs14127 (chrY:245097 C/T) Y 245097 C T Not on a known gene +rs1133530 (chrY:245132 T/C) Y 245132 T C Not on a known gene +rs1133523 (chrY:245231 A/G) Y 245231 A G Not on a known gene +rs1133520 (chrY:249360 G/A) Y 249360 G A Not on a known gene +rs2738376 (chrY:249362 A/G) Y 249362 A G Not on a known gene +rs2738375 (chrY:249481 C/A) Y 249481 C A Not on a known gene +rs2738374 (chrY:249501 C/T) Y 249501 C T Not on a known gene +rs2738373 (chrY:249591 A/G) Y 249591 A G Not on a known gene +rs2738364 (chrY:252139 G/C) Y 252139 G C Not on a known gene +rs2738357 (chrY:255984 G/A) Y 255984 G A Not on a known gene +rs2738356 (chrY:256056 G/A) Y 256056 G A Not on a known gene +rs2738355 (chrY:256152 T/G) Y 256152 T G Not on a known gene +rs2738353 (chrY:257411 G/A) Y 257411 G A Not on a known gene +. (chrY:257910 TGTAGACGCG/T) Y 257910 TGTAGACGCG T Not on a known gene +rs62581487 (chrY:257920 G/C) Y 257920 G C Not on a known gene +rs6603251 (chrY:270580 T/C) Y 270580 T C Not on a known gene +rs17855192 (chrY:272257 G/A) Y 272257 G A Not on a known gene +rs67131690 (chrY:495924 T/G) Y 495924 T G Not on a known gene +rs2239402 (chrY:541926 T/G) Y 541926 T G Not on a known gene +rs151218732 (chrY:1264931 C/T) Y 1264931 C T Not on a known gene +rs9778721 (chrY:1267404 T/C) Y 1267404 T C Not on a known gene +rs140859855 (chrY:1281495 G/C) Y 1281495 G C Not on a known gene +rs28716068 (chrY:1354832 T/G) Y 1354832 T G Not on a known gene +rs28460440 (chrY:1372868 G/A) Y 1372868 G A Not on a known gene +rs6647005 (chrY:1410740 A/G) Y 1410740 A G Not on a known gene +rs17882947 (chrY:1417290 G/C) Y 1417290 G C Not on a known gene +rs6603272 (chrY:1421138 G/T) Y 1421138 G T Not on a known gene +rs5989668 (chrY:1449835 T/C) Y 1449835 T C Not on a known gene +rs5989670 (chrY:1449878 T/G) Y 1449878 T G Not on a known gene +rs6644951 (chrY:1456318 C/G) Y 1456318 C G Not on a known gene +rs7205 (chrY:1458324 G/A) Y 1458324 G A Not on a known gene +rs14005 (chrY:1458583 T/C) Y 1458583 T C Not on a known gene +rs28461371 (chrY:1481558 C/T) Y 1481558 C T Not on a known gene +rs1127297 (chrY:1481648 C/T) Y 1481648 C T Not on a known gene +rs11553052 (chrY:1487953 C/T) Y 1487953 C T Not on a known gene +rs35466875 (chrY:1490706 A/G) Y 1490706 A G Not on a known gene +rs35193769 (chrY:1496601 T/C) Y 1496601 T C Not on a known gene +rs5949099 (chrY:1496792 G/A) Y 1496792 G A Not on a known gene +rs11553051 (chrY:1496842 A/G) Y 1496842 A G Not on a known gene +rs5948863 (chrY:1496876 A/G) Y 1496876 A G Not on a known gene +rs3183025 (chrY:1504649 T/C) Y 1504649 T C Not on a known gene +rs28592995 (chrY:1504655 T/C) Y 1504655 T C Not on a known gene +rs28371027 (chrY:1535500 T/C) Y 1535500 T C Not on a known gene +rs6644621 (chrY:1663021 C/T) Y 1663021 C T Not on a known gene +rs58902273 (chrY:1668360 G/A) Y 1668360 G A Not on a known gene +rs28661622 (chrY:1669897 C/G) Y 1669897 C G Not on a known gene +rs4933063 (chrY:1705404 C/T) Y 1705404 C T Not on a known gene +rs3210910 (chrY:2089200 T/C) Y 2089200 T C Not on a known gene +rs1127915 (chrY:2111129 C/G) Y 2111129 C G Not on a known gene +rs62583689 (chrY:2188611 G/A) Y 2188611 G A Not on a known gene +rs73173783 (chrY:2293213 C/T) Y 2293213 C T Not on a known gene +rs183618046 (chrY:2559543 G/A) Y 2559543 G A No Alamut gene - other known genes: EIF4A1P2 EIF4A1P2 +rs5939299 (chrY:2559717 G/T) Y 2559717 G T No Alamut gene - other known genes: EIF4A1P2 EIF4A1P2 +rs310134 (chrY:2559749 T/C) Y 2559749 T C No Alamut gene - other known genes: EIF4A1P2 EIF4A1P2 +rs2236738 (chrY:2559983 T/C) Y 2559983 T C No Alamut gene - other known genes: EIF4A1P2 EIF4A1P2 +rs1136447 (chrY:2582482 C/T) Y 2582482 C T Not on a known gene +rs5939113 (chrY:2588499 G/A) Y 2588499 G A Not on a known gene +rs311083 (chrY:2595366 G/C) Y 2595366 G C Not on a known gene +rs79963642 (chrY:13309574 T/C) Y 13309574 T C No Alamut gene - other known genes: KALP KALP +rs72620650 (chrY:13309588 A/C) Y 13309588 A C No Alamut gene - other known genes: KALP KALP +rs72620651 (chrY:13309602 G/T) Y 13309602 G T No Alamut gene - other known genes: KALP KALP +rs79101133 (chrY:13309624 A/G) Y 13309624 A G No Alamut gene - other known genes: KALP KALP +rs878906799 (chrY:13309627 G/A) Y 13309627 G A No Alamut gene - other known genes: KALP KALP +rs76003078 (chrY:13310495 T/C) Y 13310495 T C No Alamut gene - other known genes: KALP KALP +. (chrY:13310500 G/A) Y 13310500 G A No Alamut gene - other known genes: KALP KALP +rs76644245 (chrY:13310502 A/G) Y 13310502 A G No Alamut gene - other known genes: KALP KALP +rs80084783 (chrY:13310507 G/A) Y 13310507 G A No Alamut gene - other known genes: KALP KALP +rs76988723 (chrY:13310525 A/G) Y 13310525 A G No Alamut gene - other known genes: KALP KALP +. (chrY:13310531 C/A) Y 13310531 C A No Alamut gene - other known genes: KALP KALP +. (chrY:13310532 C/G) Y 13310532 C G No Alamut gene - other known genes: KALP KALP +rs878979293 (chrY:13310559 T/C) Y 13310559 T C No Alamut gene - other known genes: KALP KALP +rs80348613 (chrY:13310567 T/C) Y 13310567 T C No Alamut gene - other known genes: KALP KALP +rs200185916 (chrY:13310578 C/T) Y 13310578 C T No Alamut gene - other known genes: KALP KALP +rs201255328 (chrY:13310581 G/C) Y 13310581 G C No Alamut gene - other known genes: KALP KALP +rs201815174 (chrY:13310582 G/A) Y 13310582 G A No Alamut gene - other known genes: KALP KALP +rs200323052 (chrY:13310602 G/A) Y 13310602 G A No Alamut gene - other known genes: KALP KALP +rs201423743 (chrY:13310606 T/C) Y 13310606 T C No Alamut gene - other known genes: KALP KALP +rs199570822 (chrY:13310607 G/A) Y 13310607 G A No Alamut gene - other known genes: KALP KALP +rs74510459 (chrY:13310610 A/C) Y 13310610 A C No Alamut gene - other known genes: KALP KALP +rs74943081 (chrY:13310621 C/A) Y 13310621 C A No Alamut gene - other known genes: KALP KALP +rs74864464 (chrY:13310622 C/A) Y 13310622 C A No Alamut gene - other known genes: KALP KALP +rs62599754 (chrY:13311405 T/A) Y 13311405 T A No Alamut gene - other known genes: KALP KALP +rs145140024 (chrY:13311446 G/A) Y 13311446 G A No Alamut gene - other known genes: KALP KALP +rs79439484 (chrY:13311459 C/A) Y 13311459 C A No Alamut gene - other known genes: KALP KALP +rs79679333 (chrY:13311462 C/A) Y 13311462 C A No Alamut gene - other known genes: KALP KALP +rs77463160 (chrY:13311477 T/C) Y 13311477 T C No Alamut gene - other known genes: KALP KALP +rs111409981 (chrY:13311487 C/T) Y 13311487 C T No Alamut gene - other known genes: KALP KALP +rs74359393 (chrY:13311491 C/T) Y 13311491 C T No Alamut gene - other known genes: KALP KALP +rs142076379 (chrY:13311500 C/A) Y 13311500 C A No Alamut gene - other known genes: KALP KALP +rs74890084 (chrY:13311501 G/A) Y 13311501 G A No Alamut gene - other known genes: KALP KALP +rs140429861 (chrY:13311519 T/C) Y 13311519 T C No Alamut gene - other known genes: KALP KALP +rs879231806 (chrY:13311533 G/A) Y 13311533 G A No Alamut gene - other known genes: KALP KALP +rs775100446 (chrY:13311540 T/C) Y 13311540 T C No Alamut gene - other known genes: KALP KALP +. (chrY:13311562 T/A) Y 13311562 T A No Alamut gene - other known genes: KALP KALP +. (chrY:13311565 G/A) Y 13311565 G A No Alamut gene - other known genes: KALP KALP +rs75728214 (chrY:13311579 A/G) Y 13311579 A G No Alamut gene - other known genes: KALP KALP +rs78550346 (chrY:13311584 G/A) Y 13311584 G A No Alamut gene - other known genes: KALP KALP +rs138036032 (chrY:13311600 T/A) Y 13311600 T A No Alamut gene - other known genes: KALP KALP +rs4125122 (chrY:13368500 A/G) Y 13368500 A G No Alamut gene - other known genes: KALP KALP +rs78695528 (chrY:13488174 C/T) Y 13488174 C T Not on a known gene +rs80229607 (chrY:13488176 A/G) Y 13488176 A G Not on a known gene +rs111257196 (chrY:13488192 A/G) Y 13488192 A G Not on a known gene +rs75512131 (chrY:13488215 C/A) Y 13488215 C A Not on a known gene +rs75512131 (chrY:13488215 C/G) Y 13488215 C G Not on a known gene +. (chrY:13488223 C/T) Y 13488223 C T Not on a known gene +rs766839376 (chrY:13488226 C/A) Y 13488226 C A Not on a known gene +rs75169378 (chrY:13489425 T/C) Y 13489425 T C Not on a known gene +rs75123822 (chrY:13489434 G/A) Y 13489434 G A Not on a known gene +. (chrY:13489445 C/T) Y 13489445 C T Not on a known gene +. (chrY:13489446 G/A) Y 13489446 G A Not on a known gene +. (chrY:13489472 T/A) Y 13489472 T A Not on a known gene +rs79167869 (chrY:13489475 T/C) Y 13489475 T C Not on a known gene +rs377536610 (chrY:13489476 G/A) Y 13489476 G A Not on a known gene +rs111812426 (chrY:13489491 G/A) Y 13489491 G A Not on a known gene +. (chrY:13489507 G/T) Y 13489507 G T Not on a known gene +. (chrY:13489514 C/T) Y 13489514 C T Not on a known gene +rs111429450 (chrY:13489515 G/A) Y 13489515 G A Not on a known gene +rs79473036 (chrY:13496371 T/A) Y 13496371 T A Not on a known gene +rs77663237 (chrY:13524507 C/T) Y 13524507 C T Not on a known gene +rs78395530 (chrY:13524548 T/G) Y 13524548 T G Not on a known gene +rs77147889 (chrY:13524594 G/T) Y 13524594 G T Not on a known gene +rs62601224 (chrY:13551963 G/A) Y 13551963 G A Not on a known gene +rs73620059 (chrY:13573033 A/C) Y 13573033 A C Not on a known gene +rs78037666 (chrY:13573108 G/C) Y 13573108 G C Not on a known gene +rs879016544 (chrY:14107314 T/C) Y 14107314 T C Not on a known gene +rs867343413 (chrY:14107438 C/T) Y 14107438 C T Not on a known gene +rs17855271 Y 21154569 A G - TTTY14 18495 Testis-specific transcript, Y-linked 14 (non-protein coding) NR_125733.1 -1 1130 0 substitution intron GRCh37 21154569 21154569 ChrY(GRCh37):g.21154569A>G 579-59208 579-59208 NR_125733.1:n.579-59208T>C p.? p.? 3 2 -59208 3' 75.8651 7.10761 0.19992 I.59 75.8651 7.10761 0.19992 I.59 0 rs17855271 yes no Frequency 1 0.000000 0 0.000132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000335 0.000000 0.000000 0.000335 2 0 0 0 0 0 2 0 0 15121 1169 2401 388 1929 2149 5975 711 399 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 648 Exomes transition T C T>C 0.000 -3.588 111 PASS . . . . . . . . . . . . CD24:uc004ftz.1:exon1:c.T27C:p.L9L . . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 13.0 . . . . . . . . . . . . . . . . . . . . . . . 0 0.0291 0 0 0 0.0233 0.0769 0.0355 0 0.0311 0 0.0159 0 0.0295 0.0784 0.0355 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.64 0.42 182 ENSG00000185275 CD24 CD24 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 8 . . . . . . . . . . HOM . rs17855271 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv10025 . . . . . . 0 0.0001 0 0 0 0 0.0003 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs17855271 rs17855271 rs17855271 rs17855271 1 1538 255 1.I 0,0,255 +rs79788321 Y 21154603 A C - TTTY14 18495 Testis-specific transcript, Y-linked 14 (non-protein coding) NR_125733.1 -1 1130 0 substitution intron GRCh37 21154603 21154603 ChrY(GRCh37):g.21154603A>C 579-59242 579-59242 NR_125733.1:n.579-59242T>G p.? p.? 3 2 -59242 3' 75.8651 7.10761 0.19992 I.59 75.8651 7.10761 0.19992 I.59 0 rs79788321 yes no Frequency 1 0.000000 0 0.007481 0.000000 0.000000 0.000000 0.000000 0.000000 0.012097 0.000000 0.000000 0.012097 6 0 0 0 0 0 6 0 0 802 78 61 33 29 53 496 42 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 16656 Exomes transversion T G T>G 0.000 0.286 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . . . . . . . . . . . . . . 0.1490 0.6865 0.4688 0.0580 0.1667 0.4502 0.7255 0.8596 0.1836 0.7416 0.5179 0.5556 0.0182 0.5652 0.8043 0.8599 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.62 0.49 182 ENSG00000176728 TTTY14 TTTY14 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79788321 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv10025 . . . . . II.19 0 0.0075 0 0 0 0 0.0121 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs79788321 rs79788321 1 1538 255 1.I 0,0,255 +rs759491725 (chrY:59354363 A/G) Y 59354363 A G Not on a known gene +rs373351400 (chrY:59354475 A/C) Y 59354475 A C Not on a known gene +rs1045455 (chrY:59354704 G/A) Y 59354704 G A Not on a known gene +rs200636884 (chrY:59354732 G/C) Y 59354732 G C Not on a known gene +rs2758109 (chrY:59354990 T/C) Y 59354990 T C Not on a known gene +rs7357849 (chrY:59355008 C/A) Y 59355008 C A Not on a known gene +rs199901000 (chrY:59355020 C/T) Y 59355020 C T Not on a known gene +rs201762736 (chrY:59355110 T/C) Y 59355110 T C Not on a known gene +rs7357857 (chrY:59355259 C/T) Y 59355259 C T Not on a known gene +rs201221490 (chrY:59355335 T/C) Y 59355335 T C Not on a known gene +rs751897675 (chrY:59355365 C/T) Y 59355365 C T Not on a known gene +rs775704043 (chrY:59355742 A/G) Y 59355742 A G Not on a known gene +rs4013631 (chrY:59355764 A/G) Y 59355764 A G Not on a known gene +rs764864541 (chrY:59355915 C/T) Y 59355915 C T Not on a known gene +rs749589250 (chrY:59355931 G/C) Y 59355931 G C Not on a known gene +rs772663864 (chrY:59355937 C/T) Y 59355937 C T Not on a known gene +rs2974804 (chrY:59355957 G/A) Y 59355957 G A Not on a known gene +rs3953915 (chrY:59357787 G/A) Y 59357787 G A Not on a known gene +. (chrY:59359427 T/A) Y 59359427 T A Not on a known gene +. (chrY:59359458 A/G) Y 59359458 A G Not on a known gene +. (chrY:59359459 A/G) Y 59359459 A G Not on a known gene +rs778058786 (chrY:59359945 C/T) Y 59359945 C T Not on a known gene +rs371319796 (chrY:59359978 C/T) Y 59359978 C T Not on a known gene diff -r 000000000000 -r 33f04fc1f109 RemovingNonAsciicharsfromtextfile/test-data/RemovingNonAsciicharsfromtextfile_test1_output.xls --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/RemovingNonAsciicharsfromtextfile/test-data/RemovingNonAsciicharsfromtextfile_test1_output.xls Thu Apr 26 10:57:25 2018 -0400 @@ -0,0 +1,9986 @@ +#id chrom inputPos inputRef inputAlt unannotatedReason gene geneId geneDesc transcript strand transLen cdsLen protein Uniprot varType codingEffect varLocation assembly gDNAstart gDNAend gNomen cDNAstart cDNAend cNomen pNomen alt_pNomen exon intron omimId distNearestSS nearestSSType wtSSFScore wtMaxEntScore wtNNSScore wtGSScore varSSFScore varMaxEntScore varNNSScore varGSScore nearestSSChange localSpliceEffect localSS_pos localSS_wtMaxEntScore localSS_wtNNSScore localSS_wtSSFScore localSS_varMaxEntScore localSS_varNNSScore localSS_varSSFScore branchPointPos branchPointChange proteinDomain1 proteinDomain2 proteinDomain3 proteinDomain4 rsId rsValidated rsSuspect rsValidations rsValidationNumber rsAncestralAllele rsHeterozygosity rsClinicalSignificance rsMAF rsMAFAllele rsMAFCount 1000g_AF 1000g_AFR_AF 1000g_SAS_AF 1000g_EAS_AF 1000g_EUR_AF 1000g_AMR_AF gnomadAltFreq_all gnomadAltFreq_afr gnomadAltFreq_amr gnomadAltFreq_asj gnomadAltFreq_eas gnomadAltFreq_sas gnomadAltFreq_nfe gnomadAltFreq_fin gnomadAltFreq_oth gnomadAltFreq_popmax gnomadAltCount_all gnomadAltCount_afr gnomadAltCount_amr gnomadAltCount_asj gnomadAltCount_eas gnomadAltCount_sas gnomadAltCount_nfe gnomadAltCount_fin gnomadAltCount_oth gnomadTotalCount_all gnomadTotalCount_afr gnomadTotalCount_amr gnomadTotalCount_asj gnomadTotalCount_eas gnomadTotalCount_sas gnomadTotalCount_nfe gnomadTotalCount_fin gnomadTotalCount_oth gnomadHomFreq_all gnomadHomFreq_afr gnomadHomFreq_amr gnomadHomFreq_asj gnomadHomFreq_eas gnomadHomFreq_sas gnomadHomFreq_nfe gnomadHomFreq_fin gnomadHomFreq_oth gnomadHomCount_all gnomadHomCount_afr gnomadHomCount_amr gnomadHomCount_asj gnomadHomCount_eas gnomadHomCount_sas gnomadHomCount_nfe gnomadHomCount_fin gnomadHomCount_oth gnomadHetCount_all gnomadHetCount_afr gnomadHetCount_amr gnomadHetCount_asj gnomadHetCount_eas gnomadHetCount_sas gnomadHetCount_nfe gnomadHetCount_fin gnomadHetCount_oth gnomadHemCount_all gnomadHemCount_afr gnomadHemCount_amr gnomadHemCount_asj gnomadHemCount_eas gnomadHemCount_sas gnomadHemCount_nfe gnomadHemCount_fin gnomadHemCount_oth gnomadFilter gnomadReadDepth gnomadOrigin espRefEACount espRefAACount espRefAllCount espAltEACount espAltAACount espAltAllCount espEAMAF espAAMAF espAllMAF espEAAAF espAAAAF espAllAAF espAvgReadDepth clinVarIds clinVarOrigins clinVarMethods clinVarClinSignifs clinVarReviewStatus clinVarPhenotypes hgmdId hgmdPhenotype hgmdPubMedId hgmdSubCategory cosmicIds cosmicTissues cosmicFreqs cosmicSampleCounts insNucs delNucs substType wtNuc varNuc nucChange phastCons phyloP wtAA_1 wtAA_3 wtCodon wtCodonFreq varAA_1 varAA_3 varCodon varCodonFreq posAA nOrthos conservedOrthos conservedDistSpecies BLOSUM45 BLOSUM62 BLOSUM80 wtAAcomposition varAAcomposition wtAApolarity varAApolarity wtAAvolume varAAvolume granthamDist AGVGDclass AGVGDgv AGVGDgd SIFTprediction SIFTweight SIFTmedian MAPPprediction MAPPpValue MAPPpValueMedian QUAL FILTER 1000G2012APR_AFR 1000G2012APR_ALL 1000G2012APR_AMR 1000G2012APR_ASN 1000G2012APR_EUR 1000G_AFR 1000G_ALL 1000G_AMR 1000G_EAS 1000G_EUR 1000G_SAS AAChange.ensGene AAChange.knownGene AAChange.refGene AC AC3 AF1 AFR.sites.2015_08 ALL.sites.2015_08 ALLELE_ORIGIN ALTCOUNT AMR.sites.2015_08 AN ANNOVAR_DATE BA1 BP1 BP2 BP3 BP4 BP5 BP6 BP7 BS1 BS2 BS3 BS4 CADD CADD13_PHRED CADD13_RawScore CADD_Phred CADD_phred CADD_raw CADD_raw_rankscore CG46 CLINICAL_SIGNIFICANCE CLINSIG CLNACC CLNDBN CLNDSDB CLNDSDBID Category DANN_rankscore DANN_score DISTANCE DP DP4 EAS.sites.2015_08 EFF ESP6500si_AA ESP6500si_ALL ESP6500si_EA ESP6500siv2_AA ESP6500siv2_ALL ESP6500siv2_EA EUR.sites.2015_08 Eigen Eigen-PC-raw Eigen-raw Eigen_coding_or_noncoding ExAC_AFR ExAC_ALL ExAC_AMR ExAC_EAS ExAC_FIN ExAC_Freq ExAC_NFE ExAC_OTH ExAC_SAS ExAC_nonpsych_AFR ExAC_nonpsych_ALL ExAC_nonpsych_AMR ExAC_nonpsych_EAS ExAC_nonpsych_FIN ExAC_nonpsych_NFE ExAC_nonpsych_OTH ExAC_nonpsych_SAS ExAC_nontcga_AFR ExAC_nontcga_ALL ExAC_nontcga_AMR ExAC_nontcga_EAS ExAC_nontcga_FIN ExAC_nontcga_NFE ExAC_nontcga_OTH ExAC_nontcga_SAS ExonicFunc.ensGene ExonicFunc.knownGene ExonicFunc.refGene FATHMM_converted_rankscore FATHMM_pred FATHMM_score Func.ensGene Func.knownGene Func.refGene GENE GERP++_RS GERP++_RS_rankscore GLOBAL_MAF GLUE GTEx_V6_gene GTEx_V6_tissue GWAVA_region_score GWAVA_tss_score GWAVA_unmatched_score Gene.ensGene Gene.knownGene Gene.refGene GeneDetail.ensGene GeneDetail.knownGene GeneDetail.refGene GenoCanyon_score GenoCanyon_score_rankscore HGVS HRC_AC HRC_AF HRC_AN HRC_non1000G_AC HRC_non1000G_AF HRC_non1000G_AN InterVar(automated) Interpro_domain IsKnownVariant KEY LRT_converted_rankscore LRT_pred LRT_score LR_pred LR_score M-CAP_pred M-CAP_rankscore M-CAP_score MATEID MATEPOS MQ MetaLR_pred MetaLR_rankscore MetaLR_score MetaSVM_pred MetaSVM_rankscore MetaSVM_score MutationAssessor_pred MutationAssessor_score MutationAssessor_score_rankscore MutationTaster_converted_rankscore MutationTaster_pred MutationTaster_score NPAIRS OVLP PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PROVEAN_converted_rankscore PROVEAN_pred PROVEAN_score PS1 PS2 PS3 PS4 PUBMED_CITATIONS PVS1 Polyphen2_HDIV_pred Polyphen2_HDIV_rankscore Polyphen2_HDIV_score Polyphen2_HVAR_pred Polyphen2_HVAR_rankscore Polyphen2_HVAR_score PopFreqMax QUAL RadialSVM_pred RadialSVM_score SAS.sites.2015_08 SEL_PRIMARY_EFF SIFT_converted_rankscore SIFT_pred SIFT_score STDP4 SVTYPE SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore TYPE VEST3_rankscore VEST3_score Zygosity avsift avsnp144 cg46 cg69 clinvar_20131105 clinvar_20140929 clinvar_20150330 clinvar_20150629 cosmic70 dbnsfp1000Gp1_AF dbnsfp1000Gp1_AFR_AF dbnsfp1000Gp1_AMR_AF dbnsfp1000Gp1_ASN_AF dbnsfp1000Gp1_EUR_AF dbnsfp29way_logOdds dbnsfpESP5400_AA_AF dbnsfpEnsembl_transcriptid dbnsfpGERP++_NR dbnsfpGERP++_RS dbnsfpInterpro_domain dbnsfpSIFT_score dbnsfpUniprot_acc dbscSNV_ADA_SCORE dbscSNV_RF_SCORE dgvMerged esp6500si_all fathmm-MKL_coding_pred fathmm-MKL_coding_rankscore fathmm-MKL_coding_score gerp++elem gerp++gt2 gnomAD_exome_AFR gnomAD_exome_ALL gnomAD_exome_AMR gnomAD_exome_ASJ gnomAD_exome_EAS gnomAD_exome_FIN gnomAD_exome_NFE gnomAD_exome_OTH gnomAD_exome_SAS gnomAD_genome_AFR gnomAD_genome_ALL gnomAD_genome_AMR gnomAD_genome_ASJ gnomAD_genome_EAS gnomAD_genome_FIN gnomAD_genome_NFE gnomAD_genome_OTH integrated_confidence_value integrated_fitCons_score integrated_fitCons_score_rankscore ljb23_lrt ljb23_phylop ljb2_phylop ljb2_pp2hdiv ljb2_pp2hvar ljb2_sift ljb_pp2 ljb_sift pValue phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons20way_mammalian phastCons20way_mammalian_rankscore phastCons7way_vertebrate phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP20way_mammalian phyloP20way_mammalian_rankscore phyloP46way_placental phyloP7way_vertebrate popfreq_max snp129 snp130NonFlagged snp138 snp138NonFlagged ALLELE_END SAMPLE GQ GT PL +. 1 12138 C A DDX11L1 37102 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 NR_046018.2 1 1652 0 substitution exon GRCh37 12138 12138 Chr1(GRCh37):g.12138C>A 265 265 NR_046018.2:n.265C>A 1 -90 5' 78.9497 9.09184 0.971166 4.42046 78.9497 9.09184 0.971166 4.42046 0 transversion C A C>A 0.055 0.609 188 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 152.0 . . . . . . . . . . -0.1682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . . . . ENSG00000223972 DDX11L1 DDX11L1 . uc010nxq.1:c.-52C>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +rs62635282 1 12198 G C - DDX11L1 37102 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 NR_046018.2 1 1652 0 substitution exon GRCh37 12198 12198 Chr1(GRCh37):g.12198G>C 325 325 NR_046018.2:n.325G>C 1 -30 5' 78.9497 9.09184 0.971166 4.42046 78.9497 9.09184 0.971166 4.38247 0 rs62635282 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.992 -0.117 255 PASS . . . . . . . . . . . . DDX11L1:uc010nxq.1:exon1:c.G9C:p.E3D . . . 0.7421384 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 159.0 . . . . . . . . . . 0.2004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.63 0.26 182 ENSG00000223972 DDX11L1 DDX11L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62635282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3871692 rs3871692 rs3871692 rs3871692 1 1538 10 1/0 0,243,239 +rs2691329 1 13327 G C - DDX11L1 37102 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 NR_046018.2 1 1652 0 substitution exon GRCh37 13327 13327 Chr1(GRCh37):g.13327G>C 570 570 NR_046018.2:n.570G>C 3 107 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 rs2691329 yes no Frequency/1000G 2 C 0.000000 0 transversion G C G>C 0.567 -2.781 255 PASS 0.02 0.03 0.03 0.02 0.04 . . . . . . . . . . . 0.42708334 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -1.1546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.53 0.16 182 ENSG00000223972 DDX11L1 DDX11L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs144762171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 rs2691329 rs2691329 rs2691329 rs144762171 1 1538 10 1/0 0,250,255 +rs2691329 1 13327 G C - WASH7P 38034 WAS protein family homolog 7 pseudogene NR_024540.1 -1 1769 0 substitution downstream GRCh37 13327 13327 Chr1(GRCh37):g.13327G>C *1035 *1035 NR_024540.1:n.*1035C>G p.? p.? 11 1503 3' 93.5871 8.33551 0.970926 9.12405 93.5871 8.33551 0.970926 9.12405 0 rs2691329 yes no Frequency/1000G 2 C 0.000000 0 transversion C G C>G 0.567 -2.781 255 PASS 0.02 0.03 0.03 0.02 0.04 . . . . . . . . . . . 0.42708334 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -1.1546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.53 0.16 182 ENSG00000223972 DDX11L1 DDX11L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs144762171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 rs2691329 rs2691329 rs2691329 rs144762171 1 1538 10 1/0 0,250,255 +rs754322362 1 17379 G A - MIR6859-1 50039 MicroRNA 6859-1 NR_106918.1 -1 68 0 substitution exon GRCh37 17379 17379 Chr1(GRCh37):g.17379G>A 58 58 NR_106918.1:n.58C>T 1 rs754322362 yes no Frequency 1 G 0.000000 0 0.002906 0.000689 0.004831 0.003209 0.001175 0.003547 0.004134 0.000779 0.004338 0.004831 288 10 55 5 11 22 163 11 11 99096 14512 11384 1558 9362 6202 39426 14116 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 288 10 55 5 11 22 163 11 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.039 2.142 156 PASS . . . . . . . . . . . . . . . . 0.11057692 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 208.0 . . . . . . . . . . -0.0627 . . . . . . . . 6.152e-03 . . . 0 0.0132 0.0106 0 0 0.0199 0 0.0099 0 0.0067 0.0152 0 0.0048 0.0121 0 0.0103 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000227232 WASH7P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs754322362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0030 0.0048 0.0030 0.0014 0.0007 0.0039 0.0048 0.0035 0.0007 0.0027 0.0052 0.0042 0 0.0012 0.0046 0.0034 . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs754322362 1 17379 G A - MIR6859-2 49954 MicroRNA 6859-2 NR_107062.1 -1 68 0 substitution exon GRCh37 17379 17379 Chr1(GRCh37):g.17379G>A 58 58 NR_107062.1:n.58C>T 1 rs754322362 yes no Frequency 1 G 0.000000 0 0.002906 0.000689 0.004831 0.003209 0.001175 0.003547 0.004134 0.000779 0.004338 0.004831 288 10 55 5 11 22 163 11 11 99096 14512 11384 1558 9362 6202 39426 14116 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 288 10 55 5 11 22 163 11 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.039 2.142 156 PASS . . . . . . . . . . . . . . . . 0.11057692 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 208.0 . . . . . . . . . . -0.0627 . . . . . . . . 6.152e-03 . . . 0 0.0132 0.0106 0 0 0.0199 0 0.0099 0 0.0067 0.0152 0 0.0048 0.0121 0 0.0103 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000227232 WASH7P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs754322362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0030 0.0048 0.0030 0.0014 0.0007 0.0039 0.0048 0.0035 0.0007 0.0027 0.0052 0.0042 0 0.0012 0.0046 0.0034 . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs754322362 1 17379 G A - WASH7P 38034 WAS protein family homolog 7 pseudogene NR_024540.1 -1 1769 0 substitution intron GRCh37 17379 17379 Chr1(GRCh37):g.17379G>A 588-11 588-11 NR_024540.1:n.588-11C>T p.? p.? 6 5 -11 3' 81.5655 9.99893 0.740872 2.70769 85.6674 X.05 0.762739 8.55228 0.050322 Cryptic Acceptor Weakly Activated 17368 9.99893 0.740872 81.5655 X.05 0.762739 85.6674 rs754322362 yes no Frequency 1 G 0.000000 0 0.002906 0.000689 0.004831 0.003209 0.001175 0.003547 0.004134 0.000779 0.004338 0.004831 288 10 55 5 11 22 163 11 11 99096 14512 11384 1558 9362 6202 39426 14116 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 288 10 55 5 11 22 163 11 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.039 2.142 156 PASS . . . . . . . . . . . . . . . . 0.11057692 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 208.0 . . . . . . . . . . -0.0627 . . . . . . . . 6.152e-03 . . . 0 0.0132 0.0106 0 0 0.0199 0 0.0099 0 0.0067 0.0152 0 0.0048 0.0121 0 0.0103 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000227232 WASH7P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs754322362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0030 0.0048 0.0030 0.0014 0.0007 0.0039 0.0048 0.0035 0.0007 0.0027 0.0052 0.0042 0 0.0012 0.0046 0.0034 . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +. 1 24280 C T - WASH7P 38034 WAS protein family homolog 7 pseudogene NR_024540.1 -1 1769 0 substitution intron GRCh37 24280 24280 Chr1(GRCh37):g.24280C>T 204+458 204+458 NR_024540.1:n.204+458G>A p.? p.? 2 2 458 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 Cryptic Acceptor Strongly Activated 24269 2.4e-05 0.896121 1.3e-05 61.3977 transition G A G>A 0.000 -0.521 190 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||WASH7P|Non-coding_transcript|NON_CODING|NR_024540|) . . . . . . . -0.5380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.31 0.23 182 ENSG00000227232 WASH7P WASH7P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs4492552 rs4492552 rs4492552 rs4492552 1 1538 10 1/0 0,255,255 +rs11266852 1 24786 G A - WASH7P 38034 WAS protein family homolog 7 pseudogene NR_024540.1 -1 1769 0 substitution exon GRCh37 24786 24786 Chr1(GRCh37):g.24786G>A 156 156 NR_024540.1:n.156C>T 2 -49 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 6.90847 0 Cryptic Acceptor Strongly Activated 24772 0.762218 0.00392 72.2788 1.26595 0.005379 75.0517 rs11266852 no no 0 G 0.000000 0 transition C T C>T 0.992 2.546 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G52|WASH7P|Non-coding_transcript|NON_CODING|NR_024540|NR_024540.ex.2) . . . . . . . 0.8264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.62 0.46 182 ENSG00000227232 WASH7P WASH7P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11266852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs11266852 rs11266852 rs11266852 rs11266852 1 1538 10 1/0 0,255,255 +. 1 35332 G T - FAM138A 32334 Family with sequence similarity 138, member A NR_026818.1 -1 1130 0 substitution exon GRCh37 35332 35332 Chr1(GRCh37):g.35332G>T 511 511 NR_026818.1:n.511C>A 2 -56 5' 78.8739 8.00287 0.977684 0 78.8739 8.00287 0.977684 0 0 transversion C A C>A 0.161 0.125 176 PASS . . . . . . . . . . . . . . . . 0.10638298 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . . . . . . . . . -0.7102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000237613 FAM138F . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . LowAF 0.12 . . . . . . . . . . . . . III.07 . ENST00000417324 I.29 0.33 . 0.310000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.132 0.132000 . . 0.310000 . . 1.0E-176 . . . . . . . . . 0.132 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 35660 T C - FAM138A 32334 Family with sequence similarity 138, member A NR_026818.1 -1 1130 0 substitution intron GRCh37 35660 35660 Chr1(GRCh37):g.35660T>C 361+61 361+61 NR_026818.1:n.361+61A>G p.? p.? 1 1 61 5' 95.872 9.66448 0.99852 5.32632 95.872 9.66448 0.99852 5.37119 0 transition A G A>G 0.000 -0.440 245 PASS . . . . . . . . . . . . . . . . 0.29545453 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.2389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.39 0.32 182 ENSG00000237613 FAM138F . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . rs3888760 rs3888760 rs3888760 rs3888760 1 1538 10 1/0 0,255,255 +rs771537983 (chr1:138565 G/A) 1 138565 G A Not on a known gene +. (chr1:228505 T/C) 1 228505 T C Not on a known gene +. (chr1:228581 G/T) 1 228581 G T Not on a known gene +. (chr1:228593 C/T) 1 228593 C T Not on a known gene +. (chr1:325046 C/G) 1 325046 C G Not on a known gene +. (chr1:325352 G/T) 1 325352 G T Not on a known gene +. (chr1:325808 C/T) 1 325808 C T Not on a known gene +. (chr1:465248 A/G) 1 465248 A G Not on a known gene +. (chr1:465263 A/G) 1 465263 A G Not on a known gene +. (chr1:471145 G/T) 1 471145 G T Not on a known gene +. 1 621074 T C - OR4F16 15079 Olfactory receptor, family 4, subfamily F, member 16 NM_001005277.1 -1 939 939 NP_001005277.1 Q6IEY1 substitution downstream GRCh37 621074 621074 Chr1(GRCh37):g.621074T>C *22 *22 NM_001005277.1:c.*22A>G p.? p.? 1 transition A G A>G 0.000 -0.037 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . . . . . . . . . -0.2157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic downstream downstream . . . @ . . . 0.46 0.63 182 ENSG00000230021 OR4F29 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs2808347 rs2808347 rs2808347 rs2808347 1 1538 10 1/0 0,255,255 +. 1 621074 T C - OR4F29 31275 Olfactory receptor, family 4, subfamily F, member 29 NM_001005221.2 -1 939 939 NP_001005221.2 Q6IEY1 substitution downstream GRCh37 621074 621074 Chr1(GRCh37):g.621074T>C *22 *22 NM_001005221.2:c.*22A>G p.? p.? 1 transition A G A>G 0.000 -0.037 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . . . . . . . . . -0.2157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic downstream downstream . . . @ . . . 0.46 0.63 182 ENSG00000230021 OR4F29 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs2808347 rs2808347 rs2808347 rs2808347 1 1538 10 1/0 0,255,255 +. (chr1:675341 G/T) 1 675341 G T Not on a known gene +rs143324306 1 979397 G A - AGRN 329 Agrin NM_001305275.1 1 7395 6207 NP_001292204.1 substitution missense exon GRCh37 979397 979397 Chr1(GRCh37):g.979397G>A 1993 1993 NM_001305275.1:c.1993G>A p.Glu665Lys p.Glu665Lys 10 103320 -7 5' 74.8734 7.26168 0.542276 8.68208 74.8734 7.26168 0.800835 8.28512 0.158934 rs143324306 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003299 0.000172 0.000556 0.001699 0.000108 0.000000 0.004343 0.012135 0.004924 0.012135 886 4 19 17 2 0 532 281 31 268550 23280 34144 10006 18578 30594 122496 23156 6296 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000259 0.000318 6 0 0 0 0 0 2 3 1 874 4 19 17 2 0 528 275 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4388 12938 30 0 30 0.0034965 0 0.00231339 0.0034965 0 0.00231339 27 RCV000192681.3 germline|germline clinical testing|clinical testing Conflicting interpretations of pathogenicity 1 not specified transition G A G>A 1.000 5.048 E Glu GAG 0.583 K Lys AAG 0.575 665 12 8 Tetraodon 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 222.52 39.90 Deleterious 0 IV.32 255 PASS . 0.0018 . . 0.01 . 0.001 . . 0.005 . ENSG00000188157:ENST00000379370:exon10:c.G1993A:p.E665K AGRN:uc001ack.2:exon10:c.G1993A:p.E665K AGRN:NM_198576:exon10:c.G1993A:p.E665K . . 0.46226415 . . germline 49 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.623 . Conflicting//\@interpretations//\@of//\@pathogenicity other RCV000192681.2 not_specified MedGen CN169374 1 0.904 . . 106.0 . . . . 0.0023 0.0035 . 0.0023 0.0035 . 0.3195 0.269 0.320 c . . . . . 3.172e-03 . . . 0.0001 0.0022 0.0003 0 0.0146 0.0034 0.0031 0 0.0001 0.0031 0.0003 0 0.0144 0.0043 0.0084 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.530 0.0010 . . . 0.4 0.29 182 ENSG00000188157 AGRN AGRN . . . 1.000 0.747 . 136 0.00209308 64976 132 0.00220051 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.331 . . 0.225 . . . 0.214 0.548 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.518 . . 0 0 0 0 1 0 . 0.899 . . 0.679 . . . . . . 0 0.129 . . . . . 0.850 . 0.512 . HET 0.08 rs143324306 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 16.6583 0.0 ENST00000379370 IV.44 IV.44 . 0.160000 O00468 . . . 0.002313 . 0.943 . . IV.44 0.0001 0.0028 0.0005 0.0018 0.0001 0.0118 0.0035 0.0034 0 0.0002 0.0070 0.0012 0 0 0.0137 0.0101 0.0133 . . 0.730 . 2.009 2.009000 . . 0.160000 . . 1.0E-255 1.000 0.715 . 0.235 0.674 . 0.821 . 0.551 2.009 0.917 0.01 . . rs143324306 rs143324306 1 1538 10 1/0 0,255,255 +rs1781144 1 1387667 C G - ATAD3C 32151 ATPase family, AAA domain containing 3C NM_001039211.2 1 3859 1236 NP_001034300.2 Q5T2N8 substitution intron GRCh37 1387667 1387667 Chr1(GRCh37):g.1387667C>G 153-78 153-78 NM_001039211.2:c.153-78C>G p.? p.? 3 2 617227 -78 3' 89.4954 X.72 0.982861 7.81794 89.4954 X.72 0.982861 7.89616 0 rs1781144 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30905 8726 836 302 1622 0 14949 3494 976 30906 8726 836 302 1622 0 14950 3494 976 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15452 4363 418 151 811 0 7474 1747 488 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 47 Genomes transversion C G C>G 0.000 -0.521 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 366 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 366.0 . . INTRON(MODIFIER||||ATAD3C|mRNA|CODING|NM_001039211|) . . . . . . . -0.3251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.16 0.22 182 ENSG00000215915 ATAD3C ATAD3C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1781144 0.989 0.986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1781144 rs1781144 rs1781144 rs1781144 1 1538 255 1.I 0,0,255 +rs372710996 1 1395402 C T - ATAD3C 32151 ATPase family, AAA domain containing 3C NM_001039211.2 1 3859 1236 NP_001034300.2 Q5T2N8 substitution intron GRCh37 1395402 1395402 Chr1(GRCh37):g.1395402C>T 813-728 813-728 NM_001039211.2:c.813-728C>T p.? p.? 10 9 617227 -728 3' 75.5926 X.36 0.896944 14.1029 75.5926 X.36 0.896944 14.1029 0 rs372710996 yes no Frequency/1000G 2 C 0.000000 0 0.391773 0.658100 0.288300 0.592300 0.048700 0.236300 transition C T C>T 0.000 -2.458 255 PASS . . . . . 0.66 0.39 0.24 0.59 0.049 0.29 . . . . . 0.4117647 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||ATAD3C|mRNA|CODING|NM_001039211|) . . . . . . . -0.8911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3918 . . . . . . ENSG00000215915 ATAD3C ATAD3C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372710996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372710996 . 1 1538 10 1/0 0,255,255 +rs375327545 1 1395403 A G - ATAD3C 32151 ATPase family, AAA domain containing 3C NM_001039211.2 1 3859 1236 NP_001034300.2 Q5T2N8 substitution intron GRCh37 1395403 1395403 Chr1(GRCh37):g.1395403A>G 813-727 813-727 NM_001039211.2:c.813-727A>G p.? p.? 10 9 617227 -727 3' 75.5926 X.36 0.896944 14.1029 75.5926 X.36 0.896944 14.1029 0 Cryptic Donor Strongly Activated 1395403 0.002396 56.6572 II.61 0.078367 68.7933 rs375327545 yes no Frequency/1000G 2 0.000000 0 0.391773 0.658100 0.288300 0.592300 0.048700 0.236300 transition A G A>G 0.000 -1.005 255 PASS . . . . . 0.66 0.39 0.24 0.59 0.049 0.29 . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||ATAD3C|mRNA|CODING|NM_001039211|) . . . . . . . -0.5345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3918 . . . . . . ENSG00000215915 ATAD3C ATAD3C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375327545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375327545 . 1 1538 10 1/0 0,255,255 +rs369885742 1 1395404 G C - ATAD3C 32151 ATPase family, AAA domain containing 3C NM_001039211.2 1 3859 1236 NP_001034300.2 Q5T2N8 substitution intron GRCh37 1395404 1395404 Chr1(GRCh37):g.1395404G>C 813-726 813-726 NM_001039211.2:c.813-726G>C p.? p.? 10 9 617227 -726 3' 75.5926 X.36 0.896944 14.1029 75.5926 X.36 0.896944 14.1029 0 rs369885742 yes no Frequency/1000G 2 0.000000 0 0.391773 0.658100 0.288300 0.592300 0.048700 0.236300 transversion G C G>C 0.000 -1.005 255 PASS . . . . . 0.66 0.39 0.24 0.59 0.049 0.29 . . . . . 0.41666666 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||ATAD3C|mRNA|CODING|NM_001039211|) . . . . . . . -0.4942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3918 . . . . . . ENSG00000215915 ATAD3C ATAD3C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369885742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369885742 . 1 1538 10 1/0 0,255,255 +rs765533696 1 1571285 G A - MMP23A 7170 Matrix metallopeptidase 23A (pseudogene) NR_002946.1 1 906 0 substitution downstream GRCh37 1571285 1571285 Chr1(GRCh37):g.1571285G>A *1258 *1258 NR_002946.1:n.*1258G>A p.? p.? 6 603320 1459 3' 74.7037 8.80582 0.729852 2.95348 74.7037 8.80582 0.729852 2.95348 0 rs765533696 no no 0 0.000000 0 0.005885 0.001214 0.006034 0.000000 0.000543 0.002044 0.011118 0.006410 0.008174 0.011118 146 4 22 0 2 7 103 2 6 24808 3294 3646 450 3684 3424 9264 312 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146 4 22 0 2 7 103 2 6 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.19166666 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 120.0 . . . . . . . . . . 0.7728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.59 0.33 182 ENSG00000248333 CDK11B CDK11B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs765533696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0059 0.0060 0 0.0005 0.0064 0.0111 0.0082 0.0020 0 0 . 0 . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs9439488 rs9439488 rs9439488 rs9439488 1 1538 10 1/0 0,227,255 +rs765533696 1 1571285 G A - MMP23B 7171 Matrix metallopeptidase 23B NM_006983.1 1 1240 1173 NP_008914.1 O75900 substitution downstream GRCh37 1571285 1571285 Chr1(GRCh37):g.1571285G>A *1284 *1284 NM_006983.1:c.*1284G>A p.? p.? 8 603321 1459 3' 74.7037 8.80582 0.729852 2.95348 74.7037 8.80582 0.729852 2.95348 0 rs765533696 no no 0 0.000000 0 0.005885 0.001214 0.006034 0.000000 0.000543 0.002044 0.011118 0.006410 0.008174 0.011118 146 4 22 0 2 7 103 2 6 24808 3294 3646 450 3684 3424 9264 312 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146 4 22 0 2 7 103 2 6 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.19166666 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 120.0 . . . . . . . . . . 0.7728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.59 0.33 182 ENSG00000248333 CDK11B CDK11B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs765533696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0059 0.0060 0 0.0005 0.0064 0.0111 0.0082 0.0020 0 0 . 0 . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs9439488 rs9439488 rs9439488 rs9439488 1 1538 10 1/0 0,227,255 +rs777641597 (chr1:1577264 T/C) 1 1577264 T C Not on a known gene +rs113499489 1 1599974 A C - SLC35E2B 33941 Solute carrier family 35, member E2B NM_001110781.2 -1 6003 1218 NP_001104251.1 P0CK96 substitution intron GRCh37 1599974 1599974 Chr1(GRCh37):g.1599974A>C 835-63 835-63 NM_001110781.2:c.835-63T>G p.? p.? 8 7 -63 3' 80.2248 8.94762 0.954071 7.45855 80.2248 8.94762 0.954071 7.20888 0 rs113499489 no no 0 A 0.000000 0 0.006166 0.001205 0.004021 0.023364 0.007133 0.000000 0.008919 0.006679 0.011166 0.023364 162 10 3 5 10 0 104 21 9 26272 8300 746 214 1402 0 11660 3144 806 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 162 10 3 5 10 0 104 21 9 0 0 0 0 0 0 0 0 0 RF 54 Genomes transversion T G T>G 0.000 -1.247 205 PASS . . . . . . . . . . . . . . . . 0.17460318 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.2972 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.04 182 ENSG00000189339 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113499489 . 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0062 0.0040 0.0234 0.0071 0.0067 0.0089 0.0112 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . rs72634821 rs113499489 rs113499489 1 1538 10 1/0 0,253,255 +. 1 1601374 G A - SLC35E2B 33941 Solute carrier family 35, member E2B NM_001110781.2 -1 6003 1218 NP_001104251.1 P0CK96 substitution intron GRCh37 1601374 1601374 Chr1(GRCh37):g.1601374G>A 761+163 761+163 NM_001110781.2:c.761+163C>T p.? p.? 6 6 163 5' 78.1779 9.63223 0.981048 0 78.1779 9.63223 0.981048 0 0 0.000032 0.000000 0.000000 0.000000 0.000619 0.000000 0.000000 0.000000 0.000000 0.000619 1 0 0 0 1 0 0 0 0 30944 8724 838 302 1616 0 14990 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.5483871 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.1137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5\x3bUTR3 intronic . . . @ . . . . . . ENSG00000189339 SLC35E2B\x3bSLC35E2B . . uc001ahe.4:c.-91C>T\x3buc021oeu.1:c.*159C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.232e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201419561 1 1645113 T C - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 substitution intron GRCh37 1645113 1645113 Chr1(GRCh37):g.1645113T>C 459-1274 459-1274 NM_001313896.1:c.459-1274A>G p.? p.? 6 5 116951 -1274 3' 86.4059 8.12015 0.836788 2.13731 86.4059 8.12015 0.836788 2.13731 0 rs201419561 yes no Frequency/1000G 2 0.000000 0 0.290136 0.034000 0.340500 0.449400 0.365800 0.366000 0.006972 0.001514 0.014085 0.032258 0.008734 0.000000 0.022698 0.010504 0.004717 0.032258 57 8 2 2 4 0 35 5 1 8176 5284 142 62 458 0 1542 476 212 0.035088 0.000000 0.500000 0.000000 0.000000 0.000000 0.028571 0.000000 0.000000 2 0 1 0 0 0 1 0 0 53 8 0 2 4 0 33 5 1 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition A G A>G 0.043 -0.440 111 PASS . . . . . 0.034 0.29 0.37 0.45 0.37 0.34 . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . -0.3954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.2901 . . . 0.19 0.12 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs201419561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0070 0.0141 0.0323 0.0087 0.0105 0.0227 0.0047 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs201419561 rs201419561 1 1538 255 1.I 0,0,255 +rs201419561 1 1645113 T C - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 substitution intron GRCh37 1645113 1645113 Chr1(GRCh37):g.1645113T>C 2651 2651 NM_033490.2:c.-21+2672A>G p.? p.? 5 5 176873 2672 5' 95.331 X.37 0.994677 8.06472 95.331 X.37 0.994677 8.06472 0 rs201419561 yes no Frequency/1000G 2 0.000000 0 0.290136 0.034000 0.340500 0.449400 0.365800 0.366000 0.006972 0.001514 0.014085 0.032258 0.008734 0.000000 0.022698 0.010504 0.004717 0.032258 57 8 2 2 4 0 35 5 1 8176 5284 142 62 458 0 1542 476 212 0.035088 0.000000 0.500000 0.000000 0.000000 0.000000 0.028571 0.000000 0.000000 2 0 1 0 0 0 1 0 0 53 8 0 2 4 0 33 5 1 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition A G A>G 0.043 -0.440 111 PASS . . . . . 0.034 0.29 0.37 0.45 0.37 0.34 . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . -0.3954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.2901 . . . 0.19 0.12 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs201419561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0070 0.0141 0.0323 0.0087 0.0105 0.0227 0.0047 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs201419561 rs201419561 1 1538 255 1.I 0,0,255 +. 1 1647893 C CTTTCTA - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 insertion in-frame exon GRCh37 1647893 1647894 Chr1(GRCh37):g.1647893_1647894insTTTCTA 349 350 NM_001313896.1:c.349_350insTAGAAA p.Glu116_Arg117insIleGlu p.Glu116_Arg117insIleGlu 5 116951 24 3' 87.6544 7.34789 0.890883 9.72654 87.6544 7.34789 0.890883 9.57755 0 TAGAAA 255 Pass . . . . . . . . . . . . . . . . 0.37606838 . . . 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic\x3bsplicing exonic . . . . . . . . . . ENSG00000008128 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,42 +. 1 1647893 C CTTTCTA - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 insertion 5'UTR GRCh37 1647893 1647894 Chr1(GRCh37):g.1647893_1647894insTTTCTA -130 -129 NM_033490.2:c.-130_-129insTAGAAA p.? p.? 5 176873 24 3' 87.6544 7.34789 0.890883 9.44848 87.6544 7.34789 0.890883 9.29277 0 TAGAAA 255 Pass . . . . . . . . . . . . . . . . 0.37606838 . . . 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic\x3bsplicing exonic . . . . . . . . . . ENSG00000008128 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,42 +rs201741924 1 1650939 G A - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 substitution intron GRCh37 1650939 1650939 Chr1(GRCh37):g.1650939G>A 228-45 228-45 NM_001313896.1:c.228-45C>T p.? p.? 4 3 116951 -45 3' 90.0597 8.53152 0.681444 1.94021 90.0597 8.53152 0.681444 2.38034 0 1650936 -13.8503 rs201741924 yes no Frequency 1 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000014 0.000000 0.000000 0.000014 1 0 0 0 0 0 1 0 0 132798 9820 10658 2982 7754 10826 70906 17590 2262 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 250 Exomes transition C T C>T 0.000 -2.781 255 PASS . . . . . . . . . . . . . . . . 0.3548387 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.9671 . . . . . . . . 1.819e-04 . . . 0 0.0086 . . . 0.0179 . 0 0 0.0086 . 0 . 0.0185 . 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.1 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201741924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.53e-06 0 0 0 0 1.41e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201741924 rs201741924 1 1538 10 1/0 0,255,255 +rs201741924 1 1650939 G A - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 substitution intron GRCh37 1650939 1650939 Chr1(GRCh37):g.1650939G>A -326 -326 NM_033490.2:c.-281-45C>T p.? p.? 4 3 176873 -45 3' 90.0597 8.53152 0.681444 2.24471 90.0597 8.53152 0.681444 2.68483 0 1650936 -13.8503 rs201741924 yes no Frequency 1 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000014 0.000000 0.000000 0.000014 1 0 0 0 0 0 1 0 0 132798 9820 10658 2982 7754 10826 70906 17590 2262 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 250 Exomes transition C T C>T 0.000 -2.781 255 PASS . . . . . . . . . . . . . . . . 0.3548387 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.9671 . . . . . . . . 1.819e-04 . . . 0 0.0086 . . . 0.0179 . 0 0 0.0086 . 0 . 0.0185 . 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.1 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201741924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.53e-06 0 0 0 0 1.41e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201741924 rs201741924 1 1538 10 1/0 0,255,255 +rs74345479 1 1650940 G A - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 substitution intron GRCh37 1650940 1650940 Chr1(GRCh37):g.1650940G>A 228-46 228-46 NM_001313896.1:c.228-46C>T p.? p.? 4 3 116951 -46 3' 90.0597 8.53152 0.681444 1.94021 90.0597 8.53152 0.681444 1.82376 0 rs74345479 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132816 9832 10662 2986 7752 10826 70914 17584 2260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 250 Exomes transition C T C>T 0.000 -0.198 251 PASS . . . . . . . . . . . . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.1490 . . . . . . . . 7.677e-04 . . . 0 0.0002 0 0.0003 0 6.979e-05 0 0.0009 0 0.0001 0 0.0002 0 5.343e-05 0 0.0009 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.38 0.05 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74345479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs74345479 rs74345479 1 1538 10 1/0 0,255,255 +rs74345479 1 1650940 G A - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 substitution intron GRCh37 1650940 1650940 Chr1(GRCh37):g.1650940G>A -327 -327 NM_033490.2:c.-281-46C>T p.? p.? 4 3 176873 -46 3' 90.0597 8.53152 0.681444 2.24471 90.0597 8.53152 0.681444 2.12825 0 rs74345479 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132816 9832 10662 2986 7752 10826 70914 17584 2260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 250 Exomes transition C T C>T 0.000 -0.198 251 PASS . . . . . . . . . . . . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.1490 . . . . . . . . 7.677e-04 . . . 0 0.0002 0 0.0003 0 6.979e-05 0 0.0009 0 0.0001 0 0.0002 0 5.343e-05 0 0.0009 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.38 0.05 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74345479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs74345479 rs74345479 1 1538 10 1/0 0,255,255 +rs75972011 1 1650942 A G - CDK11A 1730 Cyclin-dependent kinase 11A NM_001313896.1 -1 3197 2352 NP_001300825.1 Q9UQ88 substitution intron GRCh37 1650942 1650942 Chr1(GRCh37):g.1650942A>G 228-48 228-48 NM_001313896.1:c.228-48T>C p.? p.? 4 3 116951 -48 3' 90.0597 8.53152 0.681444 1.94021 90.0597 8.53152 0.681444 2.04152 0 rs75972011 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132072 9830 10644 2890 7756 10526 70656 17532 2238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 238 Exomes transition T C T>C 0.000 0.125 253 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.1792 . . . . . . . . 1.613e-05 . . . 0 2.462e-05 0 0 0 0 0 0.0002 0 2.069e-05 0 0 0 0 0 0.0002 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.45 0.1 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75972011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . rs75972011 rs75972011 1 1538 10 1/0 0,255,255 +rs75972011 1 1650942 A G - CDK11B 1729 Cyclin-dependent kinase 11B NM_033490.2 -1 2906 1698 NP_277025.1 substitution intron GRCh37 1650942 1650942 Chr1(GRCh37):g.1650942A>G -329 -329 NM_033490.2:c.-281-48T>C p.? p.? 4 3 176873 -48 3' 90.0597 8.53152 0.681444 2.24471 90.0597 8.53152 0.681444 2.34601 0 rs75972011 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132072 9830 10644 2890 7756 10526 70656 17532 2238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 238 Exomes transition T C T>C 0.000 0.125 253 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.1792 . . . . . . . . 1.613e-05 . . . 0 2.462e-05 0 0 0 0 0 0.0002 0 2.069e-05 0 0 0 0 0 0.0002 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.45 0.1 182 ENSG00000268575 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75972011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . rs75972011 rs75972011 1 1538 10 1/0 0,255,255 +rs144624776 1 1696774 C T - NADK 29831 NAD kinase NM_001198994.1 -1 3653 1776 NP_001185923.1 substitution synonymous exon GRCh37 1696774 1696774 Chr1(GRCh37):g.1696774C>T 72 72 NM_001198994.1:c.72G>A p.Ser24= p.Ser24Ser 2 611616 -108 5' 71.7343 7.09191 0.893688 4.90423 71.7343 7.09191 0.893688 4.90423 0 New Acceptor Site 1696772 0.906692 0.29148 77.7787 rs144624776 yes no Frequency/1000G 2 C 0.000000 0 0.000759 0.000250 0.000262 0.000000 0.000000 0.000000 0.001312 0.000892 0.000929 0.001312 210 6 9 0 0 0 166 23 6 276854 24014 34388 10142 18822 30740 126504 25788 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 210 6 9 0 0 0 166 23 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 50 transition G A G>A 0.000 -2.458 S Ser TCG 0.056 S Ser TCA 0.148 24 255 PASS . 0.0005 . . 0.0013 . . . . . . . . . . . 0.5645161 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . -0.1386 . . . . . . . . 7.183e-04 . . . 9.692e-05 0.0007 0 0 0.0024 0.0012 0 0 0.0001 0.0007 0 0 0.0020 0.0010 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.25 182 ENSG00000008130 NADK NADK . . . . . . 46 0.000707954 64976 46 0.000766846 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144624776 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . . 6.543e-05 0.0008 0.0003 0 0 0.0009 0.0014 0.0011 0 0.0006 0.0007 0 0 0 0.0011 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs144624776 rs144624776 1 1538 10 1/0 0,255,255 +rs41310347 1 1897894 C T - CFAP74 29368 Cilia and flagella associated protein 74 NM_001304360.1 -1 5412 4920 NP_001291289.1 substitution synonymous exon GRCh37 1897894 1897894 Chr1(GRCh37):g.1897894C>T 1317 1317 NM_001304360.1:c.1317G>A p.Gly439= p.Gly439Gly 12 72 3' 81.7128 9.23855 0.807878 8.24605 81.7128 9.23855 0.807878 8.41632 0 rs41310347 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000795 0.000296 0.000364 0.000000 0.000000 0.000000 0.001352 0.000855 0.000958 0.001352 216 7 12 0 0 0 169 22 6 271636 23610 32998 10068 18202 29754 125012 25726 6266 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 216 7 12 0 0 0 169 22 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8185 3756 11941 9 0 9 0.00109836 0 0.000753138 0.00109836 0 0.000753138 38 COSM4525219 Skin 0.000812 1232 transition G A G>A 0.000 -0.037 G Gly GGG 0.250 G Gly GGA 0.246 439 255 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000142609:ENST00000604159:exon1:c.G72A:p.G24G . CFAP74:NM_001304360:exon12:c.G1317A:p.G439G . . 0.5833333 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 60.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G439|CFAP74|mRNA|CODING|NM_001304360|NM_001304360.ex.12) . 0.0008 0.0011 . 0.0008 0.0011 . 0.0980 . . . . . . . . 7.823e-04 . . . 0.0002 0.0007 8.857e-05 0 0.0022 0.0013 0 0 0.0001 0.0007 9.126e-05 0 0.0019 0.0012 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.14 0.33 182 ENSG00000142609 KIAA1751 CFAP74 . . . . . . 51 0.000784905 64976 50 0.000833528 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41310347 . . . . . . . . . . . . . . . . . . . . . . . 0.000753 . . . . . 0.0001 0.0008 0.0004 0 0 0.0008 0.0014 0.0011 0 0.0006 0.0008 0 0 0 0.0011 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0011 rs41310347 rs41310347 rs41310347 rs41310347 1 1538 10 1/0 0,255,255 +rs201806222 1 2451865 C G - PANK4 19366 Pantothenate kinase 4 NM_018216.2 -1 2679 2346 NP_060686.2 substitution intron GRCh37 2451865 2451865 Chr1(GRCh37):g.2451865C>G 631-12 631-12 NM_018216.2:c.631-12G>C p.? p.? 5 4 606162 -12 3' 86.7429 10.059 0.973001 9.30602 89.2804 XI.36 0.985742 XI.48 0.0689447 rs201806222 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.002692 0.000042 0.000233 0.000000 0.000000 0.000000 0.002117 0.016917 0.005309 0.016917 739 1 8 0 0 0 264 432 34 274508 23822 34378 10074 18796 30770 124728 25536 6404 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000235 0.000312 4 0 0 0 0 0 0 3 1 729 1 8 0 0 0 263 425 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -2.377 255 PASS . . . . . . 0.001 . . 0.005 . . . . . . 0.484375 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||PANK4|mRNA|CODING|NM_018216|) . . . . . . . -0.0275 . . . . . . . . 2.371e-03 . . . 0.0001 0.0016 0 0 0.0186 0.0016 0.0030 0 0.0001 0.0024 0 0 0.0185 0.0024 0.0074 0 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.37 0.11 182 ENSG00000157881 PANK4 PANK4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201806222 . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . 0 0.0026 0.0002 0 0 0.0171 0.0019 0.0048 0 0.0001 0.0038 0 0 0 0.0160 0.0034 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201806222 rs201806222 1 1538 10 1/0 0,255,255 +rs200586965 1 2519917 G T - FAM213B 28390 Family with sequence similarity 213, member B NM_001195736.1 1 2829 741 NP_001182665.1 substitution intron GRCh37 2519917 2519917 Chr1(GRCh37):g.2519917G>T 528+25 528+25 NM_001195736.1:c.528+25G>T p.? p.? 4 4 25 5' 85.1573 6.63725 0.976103 7.58136 85.1573 6.63725 0.976103 7.22898 0 rs200586965 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001805 0.000042 0.000232 0.000000 0.000000 0.000000 0.001320 0.011674 0.003557 0.011674 500 1 8 0 0 0 167 301 23 277022 24022 34416 10142 18868 30782 126542 25784 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 500 1 8 0 0 0 167 301 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4405 12990 15 1 16 0.00174419 0.000226963 0.0012302 0.00174419 0.000226963 0.0012302 94 transversion G T G>T 0.000 -0.117 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.49746192 . . @ 98 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . . 0.0002 0.0012 0.0017 0.0002 0.0012 0.0017 . 0.8874 . . . . . . . . 1.760e-03 . . . 9.653e-05 0.0011 0 0 0.0137 0.0012 0 0 0.0001 0.0017 0 0 0.0136 0.0016 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.35 0.11 182 ENSG00000157870 FAM213B FAM213B . . . . . . 99 0.00152364 64976 97 0.00161704 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200586965 . . . . . . . . . . . . . . . . . . . . . . . 0.001230 . . . . . 0 0.0018 0.0002 0 0 0.0120 0.0013 0.0035 0 0.0001 0.0020 0 0 0 0.0097 0.0016 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs200586965 rs200586965 1 1538 10 1/0 0,228,242 +rs113192826 1 3410935 G A - MEGF6 3232 Multiple EGF-like-domains 6 NM_001409.3 -1 7439 4626 NP_001400.3 O75095 substitution missense exon GRCh37 3410935 3410935 Chr1(GRCh37):g.3410935G>A 4129 4129 NM_001409.3:c.4129C>T p.Pro1377Ser p.Pro1377Ser 32 604266 -1 5' 73.1057 9.39938 0.893536 XII.41 73.8017 7.93713 0.858684 XI.25 -0.0616839 EGF-like, laminin Epidermal growth factor-like rs113192826 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008900 0.001400 0.006576 0.001974 0.002460 0.001086 0.000085 0.002900 0.012658 0.004812 0.004748 0.012658 1094 31 61 9 1 66 850 54 22 166350 15708 24798 8286 11792 22758 67152 11222 4634 0.000084 0.000000 0.000000 0.000000 0.000000 0.000176 0.000149 0.000000 0.000000 7 0 0 0 0 2 5 0 0 1080 31 61 9 1 62 840 54 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7890 3761 11651 78 7 85 0.00978916 0.00185775 0.00724267 0.00978916 0.00185775 0.00724267 8 transition C T C>T 0.000 -3.265 P Pro CCC 0.328 S Ser TCC 0.220 1377 11 3 Macaque -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 115.50 0.00 Tolerated 0.76 III.63 good 9.805E-1 0.06277 255 PASS . 0.0023 . . 0.01 . 0.002 0.0014 . 0.0089 . . . MEGF6:NM_001409:exon32:c.C4129T:p.P1377S . . 0.5277778 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.031 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P1377S|MEGF6|mRNA|CODING|NM_001409|NM_001409.ex.32) 0.0019 0.0072 0.0098 0.0019 0.0072 0.0098 . -1.4356 -1.543 -1.436 c . . . . . 3.704e-03 . . . 0.0012 0.0073 0 0 0 0.0152 0 0.0035 0.0014 0.0067 0 0 0.0357 0.0155 0 0.0035 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.344 . . exonic exonic exonic . . 0.014 0.0020 . . . 0.15 0.5 182 ENSG00000162591 MEGF6 MEGF6 . . . 1.000 0.747 . 525 0.00807991 64976 515 0.00858534 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.095 . . 0.209 . . . 0.918 0.197 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.102 . . 0.080 . . . . . . 0 0.477 . . . . . 0.010 . 0.058 . HET 0.84 rs113192826 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 0.8174 0.002597 ENST00000294599 III.58 -7.16 . . O75095-2 0.0004 0.242 . 0.007243 . 0.021 . . . 0.0020 0.0066 0.0025 0.0010 9.833e-05 0.0056 0.0132 0.0046 0.0029 0.0019 0.0063 0.0024 0.0033 0 0.0032 0.0106 0.0051 . . 0.495 . -2.002 -2.002000 . . . . . 1.0E-255 0.000 0.063 . 0.282 0.261 . 0.002 . 0.021 -2.002 -2.151 0.01 . . rs113192826 rs113192826 1 1538 10 1/0 0,255,255 +rs201491183 1 3548911 C T - WRAP73 12759 WD repeat containing, antisense to TP73 NM_017818.3 -1 1699 1383 NP_060288.3 Q9P2S5 substitution intron GRCh37 3548911 3548911 Chr1(GRCh37):g.3548911C>T 923-9 923-9 NM_017818.3:c.923-9G>A p.? p.? 10 9 606040 -9 3' 78.0206 9.98924 0.395891 3.40671 77.9524 9.22018 0.341499 2.48564 -0.0717518 rs201491183 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.006100 0.000000 0.002000 0.000000 0.002446 0.000125 0.000407 0.020390 0.000053 0.009584 0.001129 0.000000 0.002319 0.020390 678 3 14 207 1 295 143 0 15 277204 24030 34420 10152 18870 30782 126690 25792 6468 0.000036 0.000000 0.000000 0.000394 0.000000 0.000195 0.000000 0.000000 0.000000 5 0 0 2 0 3 0 0 0 668 3 14 203 1 289 143 0 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4406 12989 17 0 17 0.00197674 0 0.00130709 0.00197674 0 0.00130709 171 COSM328032 Pancreas 0.000569 1758 transition G A G>A 0.000 -2.297 255 PASS . 0.0005 . . 0.0013 . 0.0016 . . 0.002 0.0061 . . . . . 0.4050633 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . 0.0013 0.002 . 0.0013 0.002 . 0.0855 . . . . . . . . 2.447e-03 . . . 0 0.0031 0.0006 0 0 0.0029 0.0014 0.0094 0 0.0027 0.0006 0 0 0.0023 0 0.0094 . . . . . . intronic UTR3 intronic . . . 0.0016 . . . 0.3 0.25 182 ENSG00000116213 WRAP73 WRAP73 . uc010nzi.2:c.*4525G>A . . . . 69 0.00106193 64976 61 0.0010169 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201491183 . . . . . . ID\x3dCOSM328032\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . 0.0001 0.106 . 0.001307 . . . . . 6.534e-05 0.0026 0.0004 0.0202 5.798e-05 0 0.0011 0.0026 0.0096 0.0002 0.0011 0.0012 0.0265 0 0 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs201491183 rs201491183 1 1538 10 1/0 0,255,255 +. 1 3789178 G GGGCCCTGTCCCTGCCGC - DFFB 2773 DNA fragmentation factor subunit beta NM_001282669.1 1 3114 1089 NP_001269598.1 insertion intron GRCh37 3789194 3789195 Chr1(GRCh37):g.3789194_3789195insCGGCCCTGTCCCTGCCG 854+58 854+59 NM_001282669.1:c.854+58_854+59insCGGCCCTGTCCCTGCCG p.? p.? 6 6 601883 58 5' 81.6064 5.61347 0.847317 3.74559 81.6064 5.61347 0.847317 3.56022 0 rs202183040 yes no Frequency/1000G 2 0.000000 0 0.000212 0.000325 0.000000 0.000000 0.000000 0.000000 0.000262 0.000000 0.000000 0.000325 2 1 0 0 0 0 1 0 0 9454 3078 384 106 842 0 3822 948 274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 138 Genomes CGGCCCTGTCCCTGCCG 255 Pass . . . . . . . . . . . . . . . . 0.26136363 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 88 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000169598 DFFB DFFB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202183040 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv509590 . . . . . . . . . . . . . . . 0.0003 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,58 +rs11581401 1 3789195 T C - DFFB 2773 DNA fragmentation factor subunit beta NM_001282669.1 1 3114 1089 NP_001269598.1 substitution intron GRCh37 3789195 3789195 Chr1(GRCh37):g.3789195T>C 854+59 854+59 NM_001282669.1:c.854+59T>C p.? p.? 6 6 601883 59 5' 81.6064 5.61347 0.847317 3.74559 81.6064 5.61347 0.847317 III.73 0 rs11581401 yes no Frequency/1000G 2 C 0.000000 0 0.425519 0.454600 0.458100 0.282700 0.519900 0.394800 0.002758 0.003269 0.001202 0.000000 0.004375 0.000000 0.002656 0.001735 0.003138 0.004375 83 27 1 0 7 0 39 6 3 30092 8260 832 300 1600 0 14686 3458 956 0.012048 0.037037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 62 17 1 0 5 0 32 5 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition T C T>C 0.000 -1.893 111 PASS 0.4 0.4 0.4 0.26 0.52 0.45 0.43 0.39 0.28 0.52 0.46 . . . . . 1.0 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.8494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4255 . . . 0.1 0.06 182 ENSG00000169598 DFFB DFFB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11581401 0.217 0.217 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv509590 . . . . . . . . . . . . . . . 0.0033 0.0028 0.0012 0 0.0044 0.0017 0.0027 0.0031 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.52 rs11581401 rs11581401 rs11581401 rs11581401 1 1538 255 1.I 0,0,255 +rs557447923 1 5923764 T G - MIR4689 41895 MicroRNA 4689 NR_039838.1 -1 70 0 substitution upstream GRCh37 5923764 5923764 Chr1(GRCh37):g.5923764T>G -963 -963 NR_039838.1:n.-963A>C p.? p.? 1 rs557447923 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000485 0.000115 0.000000 0.000000 0.000000 0.000000 0.000934 0.000000 0.000000 0.000934 15 1 0 0 0 0 14 0 0 30948 8728 836 302 1622 0 14986 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 1 0 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transversion A C A>C 0.000 -2.377 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.4 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.6402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . 0.0002 . . . . . . ENSG00000131697 NPHP4 NPHP4 . uc001alr.1:c.*2665A>C . . . . 30 0.000461709 64976 29 0.000483446 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs557447923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs557447923 1 5923764 T G - NPHP4 19104 Nephronophthisis 4 NM_015102.4 -1 5006 4281 NP_055917.1 O75161 substitution intron GRCh37 5923764 5923764 Chr1(GRCh37):g.5923764T>G 4140+186 4140+186 NM_015102.4:c.4140+186A>C p.? p.? 29 29 607215 186 5' 80.4452 6.34467 0.798271 6.62036 80.4452 6.34467 0.798271 6.62036 0 rs557447923 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000485 0.000115 0.000000 0.000000 0.000000 0.000000 0.000934 0.000000 0.000000 0.000934 15 1 0 0 0 0 14 0 0 30948 8728 836 302 1622 0 14986 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 1 0 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transversion A C A>C 0.000 -2.377 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.4 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.6402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . 0.0002 . . . . . . ENSG00000131697 NPHP4 NPHP4 . uc001alr.1:c.*2665A>C . . . . 30 0.000461709 64976 29 0.000483446 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs557447923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139022622 1 5926503 G A - NPHP4 19104 Nephronophthisis 4 NM_015102.4 -1 5006 4281 NP_055917.1 O75161 substitution missense exon GRCh37 5926503 5926503 Chr1(GRCh37):g.5926503G>A 3574 3574 NM_015102.4:c.3574C>T p.Arg1192Trp p.Arg1192Trp 26 607215 16 3' 80.5072 2.89289 0.46935 4.18867 80.5072 2.89289 0.331225 3.74493 -0.0980967 rs139022622 yes no Frequency/1000G 2 G uncertain_significance,likely_benign 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.001811 0.000456 0.001593 0.000103 0.000000 0.000000 0.002853 0.002273 0.002471 0.002853 462 10 52 1 0 0 329 55 15 255098 21914 32638 9696 17518 27740 115326 24196 6070 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000083 0.000000 2 0 0 0 0 0 1 1 0 458 10 52 1 0 0 327 53 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8217 3862 12079 19 4 23 0.00230695 0.00103466 0.00190051 0.00230695 0.00103466 0.00190051 34 RCV000168448.1|RCV000271940.1 germline|germline clinical testing|clinical testing VUS|Likely benign 0|1 Nephronophthisis|not specified CM051582 Nephronophthisis 4 15776426 DM transition C T C>T 0.047 1.739 R Arg CGG 0.207 W Trp TGG 1.000 1192 12 8 Horse -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 241.31 94.79 Deleterious 0 III.36 255 PASS . 0.0009 . . 0.0026 . 0.001 . . 0.005 . ENSG00000131697:ENST00000378156:exon26:c.C3574T:p.R1192W . . . . 0.42028984 . . germline 29 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.736 . Uncertain//\@significance//\%//\@Likely//\@benign Uncertain_significance|Likely_benign RCV000168448.1|RCV000271940.1 Nephronophthisis|not_specified MedGen:SNOMED_CT|MedGen C0687120:204958008|CN169374 1 0.896 . . 69.0 . . . 0.001 0.0019 0.0023 0.001 0.0019 0.0023 . 0.1530 -0.012 0.153 c . . . . . 1.823e-03 . . . 0.0006 0.0022 0.0019 0 0.0072 0.0035 0.0045 0 0.0007 0.0026 0.0019 0 0.0059 0.0040 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.740 . . exonic exonic exonic . . 0.348 0.0010 . . . 0.39 0.58 182 ENSG00000131697 NPHP4 NPHP4 . . . 0.264 0.188 . 83 0.00127739 64976 78 0.0013003 59986 Uncertain_significance . 0 . 0.358 . . . . D 0.881 0.227 . . 37 . 0.812 . . 0.728 . . . 0.674 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.718 . . 0 0 0 0 1 0 . 0.899 . . 0.749 . . . . . . 0 0.721 . . . . . 0.504 . 0.800 . HET 0 rs139022622 . . . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dNephronophthisis\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000168448.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0687120:204958008 . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 XI.93 0.00126 ENST00000378156 5.XI 3.XII . 0.000000 . . . . 0.001901 . 0.432 . . 3.XII 0.0004 0.0018 0.0016 0.0001 0 0.0022 0.0029 0.0027 0 0.0006 0.0017 0 0 0 0.0026 0.0026 0.0010 . . 0.567 . 0.548 0.548000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.171 0.112 . 0.599 . 0.158 0.548 -0.020 0.0026 . . rs139022622 rs139022622 1 1538 10 1/0 0,255,255 +rs368327650 1 5964814 G A - NPHP4 19104 Nephronophthisis 4 NM_015102.4 -1 5006 4281 NP_055917.1 O75161 substitution missense exon GRCh37 5964814 5964814 Chr1(GRCh37):g.5964814G>A 2006 2006 NM_015102.4:c.2006C>T p.Thr669Ile p.Thr669Ile 16 607215 51 3' 78.6996 4.22572 0.43352 0 78.6996 4.22572 0.43352 0 0 Cryptic Acceptor Weakly Activated 5964806 9.02669 0.867487 86.3247 IX.08 0.897561 88.1345 rs368327650 yes no Frequency 1 G 0.000000 0 0.000032 0.000000 0.000030 0.000000 0.000000 0.000000 0.000054 0.000000 0.000182 0.000054 8 0 1 0 0 0 6 0 1 246252 15300 33576 9850 17248 30782 111716 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 1 0 0 0 6 0 1 0 0 0 0 0 0 0 0 0 PASS 61 Exomes 8443 4198 12641 1 0 1 0.000118427 0 7.91014e-05 0.000118427 0 7.91014e-05 126 transition C T C>T 1.000 4.887 T Thr ACC 0.361 I Ile ATC 0.481 669 12 10 C. elegans -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0 III.36 255 PASS . . . . . . . . . . . . . . . . 0.452 . . @ 113 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.906 . @ . . . . . 1 0.986 . . 250.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.8540 0.813 0.854 c . . . . . 3.188e-05 . . . 0 3.329e-05 8.648e-05 0 0 2.373e-05 0.0014 0 0 2.841e-05 8.917e-05 0 0 3.681e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.947 . . exonic exonic exonic . . 0.688 @ . . . 0.49 0.38 182 ENSG00000131697 NPHP4 NPHP4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.952 0.503 . . 37 . 0.969 . . 0.977 . . . 0.809 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.795 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.682 . . . . . 0.876 . 0.897 . HET 0 rs368327650 . . . . . . . . . . . . 17.5221 . . 5.I 5.I . 0.000000 O75161 . . . 0.000079 . 0.807 . . 5.I 0 3.249e-05 2.978e-05 0 0 0 5.371e-05 0.0002 0 . . . . . . . . . . 0.372 . 2.364 2.364000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.898 . 0.490 2.364 0.917 0.0001 . . rs368327650 . 1 1538 10 1/0 0,217,241 +rs775528020 1 6269120 T G - RNF207 32947 Ring finger protein 207 NM_207396.2 1 3971 1905 NP_997279.2 Q6ZRF8 substitution intron GRCh37 6269120 6269120 Chr1(GRCh37):g.6269120T>G 469+35 469+35 NM_207396.2:c.469+35T>G p.? p.? 4 4 616923 35 5' 71.5327 7.394 0.815251 14.0662 71.5327 7.394 0.815251 14.6661 0 rs775528020 yes no Frequency 1 T 0.000000 0 transversion T G T>G 0.000 -0.521 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.6343 . . . . . . . . 3.909e-04 . . . 0 0.0005 0 0 0 0.0003 0 0.0007 0 0.0014 0 0.125 0 0 0 0.0007 . . . . . . intronic intronic intronic . . . @ . . . . . . . RNF207 RNF207 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs775528020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 1 6530965 C CG - PLEKHG5 29105 Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 NM_001265592.1 -1 4794 3258 NP_001252521.1 duplication intron GRCh37 6530965 6530966 Chr1(GRCh37):g.6530966dup 1630-22 1630-22 NM_001265592.1:c.1630-22dup p.? p.? 15 14 611101 -21 3' 72.9281 7.88637 0.600746 9.02151 72.9281 7.88637 0.600746 10.652 0 rs111312565 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999978 1.000000 1.000000 1.000000 0.999919 1.000000 0.999957 1.000000 1.000000 1.000000 178576 15926 25322 8390 12355 23498 70261 18048 4776 178580 15926 25322 8390 12356 23498 70264 18048 4776 0.999955 1.000000 1.000000 1.000000 0.999838 1.000000 0.999915 1.000000 1.000000 89286 7963 12661 4195 6177 11749 35129 9024 2388 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 55 20 75 7491 3822 11313 0.00728863 0.00520562 0.00658588 0.992711 0.994794 0.993414 6 C 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.9661017 . . . 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 59 . . . 1. 1. 1. 0.99 0.99 0.99 . . . . . . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000171680 PLEKHG5 PLEKHG5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs111312565 0.098 0.101 . . . . . . . . . . . . . . . . . . . . . 0.998506 . . . . . 1 1.0000 1 1 0.9999 1 1.0000 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs111312565 rs111312565 1 1538 255 1.I 0,0,255 +rs41278012 1 6532786 A G - PLEKHG5 29105 Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 NM_001265592.1 -1 4794 3258 NP_001252521.1 substitution intron GRCh37 6532786 6532786 Chr1(GRCh37):g.6532786A>G 1222-104 1222-104 NM_001265592.1:c.1222-104T>C p.? p.? 11 10 611101 -104 3' 75.9159 9.54297 0.969014 X.37 75.9159 9.54297 0.969014 X.37 0 rs41278012 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.002000 0.002900 0.001972 0.000458 0.005967 0.000000 0.000000 0.000000 0.003071 0.001145 0.002037 0.005967 61 4 5 0 0 0 46 4 2 30940 8726 838 302 1622 0 14978 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 4 5 0 0 0 46 4 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition T C T>C 0.008 0.448 255 PASS . 0.0005 0.0028 . . . 0.0008 0.0029 . 0.002 . . . . . . 0.49315068 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 0.7638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.5 0.35 182 ENSG00000171680 PLEKHG5 PLEKHG5 . . . . . . 166 0.00255479 64976 162 0.00270063 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41278012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0020 0.0060 0 0 0.0011 0.0031 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 rs41278012 rs41278012 rs41278012 rs41278012 1 1538 10 1/0 0,255,255 +rs576441412 1 6695557 C G - DNAJC11 25570 DnaJ (Hsp40) homolog, subfamily C, member 11 NM_018198.3 -1 3293 1680 NP_060668.2 Q9NVH1 substitution 3'UTR GRCh37 6695557 6695557 Chr1(GRCh37):g.6695557C>G *178 *178 NM_018198.3:c.*178G>C p.? p.? 16 614827 204 3' 91.6038 12.0962 0.994095 10.0486 91.6038 12.0962 0.994095 10.0486 0 Cryptic Acceptor Strongly Activated 6695549 0.459232 0.00114 60.8918 1.82914 0.005939 64.2471 rs576441412 yes no Frequency/1000G 2 C 0.000200 G 1 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000710 0.000000 0.001193 0.000000 0.000000 0.000000 0.001133 0.000859 0.001018 0.001193 22 0 1 0 0 0 17 3 1 30980 8732 838 302 1622 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 1 0 0 0 17 3 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion G C G>C 0.898 2.788 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.84615386 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 13.0 . . . . . . . . . . I.00 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . . . . . . . . . NM_018198:c.*178G>C\x3bNM_138350:c.*1409C>G . . . 44 0.000677173 64976 43 0.000716834 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs576441412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.74 . . . . . . . . . 0 0.0007 0.0012 0 0 0.0009 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs576441412 1 6695557 C G - THAP3 20855 THAP domain containing, apoptosis associated protein 3 NM_001195753.1 1 1384 720 NP_001182682.1 Q8WTV1 substitution downstream GRCh37 6695557 6695557 Chr1(GRCh37):g.6695557C>G *2420 *2420 NM_001195753.1:c.*2420C>G p.? p.? 6 612532 2702 3' 83.2539 11.1352 0.992807 10.1641 83.2539 11.1352 0.992807 10.1641 0 rs576441412 yes no Frequency/1000G 2 C 0.000200 G 1 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000710 0.000000 0.001193 0.000000 0.000000 0.000000 0.001133 0.000859 0.001018 0.001193 22 0 1 0 0 0 17 3 1 30980 8732 838 302 1622 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 1 0 0 0 17 3 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion C G C>G 0.898 2.788 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.84615386 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 13.0 . . . . . . . . . . I.00 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . . . . . . . . . NM_018198:c.*178G>C\x3bNM_138350:c.*1409C>G . . . 44 0.000677173 64976 43 0.000716834 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs576441412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.74 . . . . . . . . . 0 0.0007 0.0012 0 0 0.0009 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201124379 1 10478897 A G - PGD 8891 Phosphogluconate dehydrogenase NM_002631.3 1 2340 1452 NP_002622.2 P52209 substitution missense exon GRCh37 10478897 10478897 Chr1(GRCh37):g.10478897A>G 1124 1124 NM_002631.3:c.1124A>G p.Lys375Arg p.Lys375Arg 11 172200 15 3' 83.7552 7.76637 0.570478 3.73895 83.7552 7.76637 0.665569 3.60694 0.0555622 6-phosphogluconate dehydrogenase, C-terminal 6-phosphogluconate dehydrogenase, decarboxylating rs201124379 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000301 0.000083 0.000583 0.000000 0.000000 0.000000 0.000444 0.000039 0.000622 0.000583 83 2 20 0 0 0 56 1 4 276028 23954 34328 10114 18810 30528 126176 25688 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 2 20 0 0 0 56 1 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4405 13001 4 1 5 0.000465116 0.000226963 0.000384438 0.000465116 0.000226963 0.000384438 107 transition A G A>G 1.000 4.079 K Lys AAG 0.575 R Arg AGG 0.207 375 12 8 Zebrafish 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 240.29 13.90 Tolerated 0.08 III.83 255 PASS . 0.0005 0.0028 . . . 0.0004 0.0014 . 0.001 . . . . . . 0.5151515 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.424 . @ . . . . . 1 0.815 . . 66.0 . . . 0.0002 0.0004 0.0005 0.0002 0.0004 0.0005 . 0.1875 0.340 0.188 c . . . . . 2.447e-04 . . . 0.0002 0.0002 0.0002 0 0 0.0004 0 0 0.0001 0.0003 0.0002 0 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.445 . . exonic exonic exonic . . 0.682 0.0004 . . . 0.49 0.16 182 ENSG00000142657 PGD PGD . . . 1.000 0.747 . 13 0.000200074 64976 11 0.000183376 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.255 0.010 . . 37 . 0.369 . . 0.337 . . . 0.301 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.309 . . 0 0 0 0 0 0 . 0.367 . . 0.397 . . . . . . 0 0.381 . . . . . 0.727 . 0.622 . HET 0.08 rs201124379 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 15.2022 2.68E-4 . 5.VIII 5.VIII . 0.030000 . . . . 0.000384 . 0.858 . . 5.VIII 6.539e-05 0.0003 0.0006 0 0 4.486e-05 0.0004 0.0007 0 0.0001 0.0002 0 0 0 0 0.0004 0 . . 0.730 . 2.049 2.049000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.904 . 0.908 2.049 1.058 0.0028 . . rs201124379 rs201124379 1 1538 10 1/0 0,255,255 +rs9430193 1 11593793 T C - DISP3 29251 Dispatched RND transporter family member 3 NM_020780.1 1 5214 4179 NP_065831.1 Q9P2K9 substitution intron GRCh37 11593793 11593793 Chr1(GRCh37):g.11593793T>C 3376-645 3376-645 NM_020780.1:c.3376-645T>C p.? p.? 18 17 611251 -645 3' 82.5923 X.62 0.97924 8.61176 82.5923 X.62 0.97924 8.61176 0 rs9430193 yes no Frequency/1000G 2 C 0.000000 0 0.355232 0.369100 0.331300 0.349200 0.359800 0.364600 0.000097 0.000115 0.000000 0.000000 0.000000 0.000000 0.000134 0.000000 0.000000 0.000134 3 1 0 0 0 0 2 0 0 30832 8696 836 300 1620 0 14926 3472 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 15 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 46 Genomes transition T C T>C 0.000 -1.974 239 PASS . . . . . 0.37 0.36 0.36 0.35 0.36 0.33 . . . . . 0.27450982 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||PTCHD2|mRNA|CODING|NM_020780|) . . . . . . . -0.8259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . 0.4109 . . . 0.53 0.48 182 ENSG00000204624 PTCHD2 PTCHD2 ENST00000304391:c.-58T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9430193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 9.73e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs9430193 rs9430193 rs9430193 rs9430193 1 1538 10 1/0 0,255,255 +rs200078448 1 11718743 G C - FBXO44 24847 F-box protein 44 NM_001014765.1 1 3320 768 NP_001014765.1 Q9H4M3 substitution intron GRCh37 11718743 11718743 Chr1(GRCh37):g.11718743G>C 489-50 489-50 NM_001014765.1:c.489-50G>C p.? p.? 6 5 609111 -50 3' 86.9898 13.9664 0.987095 13.9053 86.9898 13.9664 0.987095 14.421 0 transversion G C G>C 0.071 -0.279 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . 0.8200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.42 0.23 182 ENSG00000132879 FBXO44 FBXO44 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 11985396 A G - KIAA2013 28513 KIAA2013 NM_138346.2 -1 2823 1905 NP_612355.1 Q8IYS2 substitution missense exon GRCh37 11985396 11985396 Chr1(GRCh37):g.11985396A>G 899 899 NM_138346.2:c.899T>C p.Leu300Pro p.Leu300Pro 1 -135 5' 95.6376 X.36 0.99713 XII.71 95.6376 X.36 0.99713 XII.71 0 Protein of unknown function DUF2152 COSM6359877 Thyroid 0.005355 747 transition T C T>C 1.000 1.093 L Leu CTC 0.197 P Pro CCC 0.328 300 11 6 Dog -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Deleterious 0.01 III.42 unknown 0.0 0.0 205 PASS . . . . . . . . . . . . . KIAA2013:NM_138346:exon1:c.T899C:p.L300P . . 0.17105263 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.343 . @ . . . . . 1 0.317 . . 152.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cCc|L300P|KIAA2013|mRNA|CODING|NM_138346|NM_138346.ex.1) . . . . . . . 0.3304 0.310 0.330 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.441 @ . . . . . . ENSG00000116685 KIAA2013 KIAA2013 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.201 . . . . T 0.248 0.009 . . 37 . 0.529 . . 0.492 . . . 0.281 0.548 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.285 . . 0 0 0 0 0 0 . 0.689 . . 0.622 . . . . . . 0 0.142 . . . . . 0.162 . 0.686 . HET 0.19 . . . . . . . . . . . . . V.53 . . 3.IX 3.IX . 0.320000 . . . . . . 0.403 . . 3.IX . . . . . . . . . . . . . . . . . . . 0.994 . 1.767 1.767000 . . 0.320000 . . 1.0E-205 1.000 0.715 . 0.888 0.975 . 0.543 . 0.903 1.767 1.062 . . . . . 1 1538 10 1/0 0,214,255 +rs1063797 (chr1:12855845 G/C) 1 12855845 G C Transcript NM_023013.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF1 +. 1 12998566 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998566 12998566 Chr1(GRCh37):g.12998566C>T 1370 1370 NM_001010889.2:c.1370G>A p.Cys457Tyr p.Cys457Tyr 4 501 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 0.002596 0.002300 0.000000 0.000000 0.006000 0.005800 0.002584 0.009266 0.006798 0.007576 0.000000 0.000234 0.001532 0.000000 0.002845 0.009266 117 26 47 8 0 1 31 0 4 45284 2806 6914 1056 6408 4282 20232 2180 1406 0.000883 0.004989 0.002314 0.003788 0.000000 0.000000 0.000297 0.000000 0.000000 20 7 8 2 0 0 3 0 0 77 12 31 4 0 1 25 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.360 C Cys TGC 0.552 Y Tyr TAC 0.562 457 -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 196 PASS . . . . . 0.0023 0.0026 0.0058 . 0.006 . . . PRAMEF6:NM_001010889:exon4:c.G1370A:p.C457Y . . 0.15044248 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.014 . . 113.0 . . . . . . . . . . -1.8434 -1.874 -1.843 c . . . . . 5.079e-04 . . . 0 0 0 0 . 0 0 . . 0 0 0 . 0 . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.142 @ . . . 0.34 0.24 182 ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.041 . . . . T 0.011 0.001 . . 37 . 0.205 . . 0.120 . . . 0.018 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.188 . . . . . 0.064 . 0.138 . HET 0.27 rs572191341 . . . . . . . . . . . . III.76 0.014706 . 1.II 0.165 . 0.320000 . . . . . . 0.005 . . . 0.0069 0.0026 0.0071 0.0062 0 0 0.0016 0.0027 0.0002 0.0171 0.0026 0 0.0222 0 0 0.0015 0.0035 . . 0.133 . -0.362 -0.362000 . . 0.320000 . . 1.0E-196 0.000 0.063 . 0.016 0.000 . 0.034 . 0.001 -0.362 -1.495 . . . rs77498625 rs77498625 1 1538 10 1/0 0,225,255 +rs61779360 1 12998610 C A - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 12998610 12998610 Chr1(GRCh37):g.12998610C>A 1326 1326 NM_001010889.2:c.1326G>T p.Val442= p.Val442Val 4 457 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs61779360 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.001000 0.005000 0.002900 0.000997 0.001069 0.001352 0.000000 0.000468 0.000701 0.000753 0.004615 0.001460 0.004615 43 3 9 0 3 3 14 9 2 43124 2806 6656 1060 6412 4278 18592 1950 1370 0.000278 0.000713 0.000601 0.000000 0.000312 0.000468 0.000108 0.000000 0.000000 6 1 2 0 1 1 1 0 0 31 1 5 0 1 1 12 9 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.008 0.851 V Val GTG 0.468 V Val GTT 0.178 442 223 PASS . . . . . . 0.0016 0.0029 0.001 0.005 . . . PRAMEF6:NM_001010889:exon4:c.G1326T:p.V442V . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . . . . . . . . . -0.1696 . . . . . . . . 5.739e-04 . . . 0 0 0 0 . 0 0 . . 0 0 0 . 0 . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . . . . ENSG00000232423 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61779360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0007 0.0014 0 0.0005 0.0019 0.0005 0.0018 0.0007 0.0026 0.0027 0 0 0 0.0056 0.0021 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . rs61779360 rs61779360 rs61779360 rs61779360 1 1538 10 1/0 0,223,255 +rs199581295 1 12998688 G C - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 12998688 12998688 Chr1(GRCh37):g.12998688G>C 1248 1248 NM_001010889.2:c.1248C>G p.Pro416= p.Pro416Pro 4 379 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs199581295 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -3.104 P Pro CCC 0.328 P Pro CCG 0.115 416 176 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1248G:p.P416P . . 0.104575165 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -1.0353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.29 182 ENSG00000232423 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199581295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs7417152 rs199581295 1 1538 10 1/0 0,208,255 +rs6604961 1 12998689 G A - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998689 12998689 Chr1(GRCh37):g.12998689G>A 1247 1247 NM_001010889.2:c.1247C>T p.Pro416Leu p.Pro416Leu 4 378 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs6604961 no no 0 G 0.000000 0 0.000133 0.000000 0.000000 0.000000 0.000000 0.000000 0.000259 0.000000 0.000862 0.000259 5 0 0 0 0 0 4 0 1 37652 2448 6252 996 6106 4212 15450 1028 1160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6413693 Thyroid 0.001339 747 transition C T C>T 0.008 1.013 P Pro CCC 0.328 L Leu CTC 0.197 416 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 227 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1247T:p.P416L . . 0.23376623 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.443 . @ . . . . . 1 0.447 . . 154.0 . . . . . . . . . . -0.0419 -0.390 -0.042 c . . . . . 5.851e-04 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.114 . . exonic exonic exonic . . 0.206 @ . . . . . . ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.013 0.001 . . 37 . 0.335 . . 0.039 . . . 0.881 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.983 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.555 . . . . . 0.188 . 0.429 . HET 0.04 rs6604961 . . . . . . . . . . . . 6.0311 . . I.29 I.29 . 0.020000 . . . . . . 0.130 . . . 0 0.0001 0 0 0 0 0.0002 0.0009 0 0 0.0006 0 0 0 0 0.0013 0 . . 0.133 . 1.028 1.028000 . . 0.020000 . . 1.0000000000000001E-227 0.819 0.297 . 0.104 0.005 . 0.485 . 0.294 1.028 0.830 . rs6604961 rs6604961 rs6604961 rs6604961 1 1538 10 1/0 0,220,255 +. 1 12998702 G C - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998702 12998702 Chr1(GRCh37):g.12998702G>C 1234 1234 NM_001010889.2:c.1234C>G p.Leu412Val p.Leu412Val 4 365 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 New Donor Site 12998703 1.64702 0.115903 70.2577 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36650 2392 6464 990 6104 4302 14754 544 1100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 72 Exomes COSM6373402 Thyroid 0.002677 747 transversion C G C>G 0.000 -1.167 L Leu CTG 0.404 V Val GTG 0.468 412 1 1 1 0 0 4.IX 5.IX 111 84 32 203 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1234G:p.L412V . . 0.16564417 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.148 . . 163.0 . . . . . . . . . . -1.3870 -1.582 -1.387 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.114 . . exonic exonic exonic . . 0.059 @ . . . . . . ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.082 . . . . T 0.005 0.001 . . 37 . 0.093 . . 0.220 . . . 0.520 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.437 . . 0 0 0 0 0 0 . 0.324 . . 0.293 . . . . . . 0 0.408 . . . . . 0.081 . 0.114 . HET 0.07 . . . . . . . . . . . . . III.13 . . I.29 -2.57 . 0.060000 . . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.331 -1.331000 . . 0.060000 . . 1.0E-203 0.000 0.063 . 0.095 0.010 . 0.027 . 0.090 -1.331 -0.752 . rs11578329 rs11578329 rs11578329 rs11578329 1 1538 10 1/0 0,211,255 +. 1 12998708 C G - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998708 12998708 Chr1(GRCh37):g.12998708C>G 1228 1228 NM_001010889.2:c.1228G>C p.Val410Leu p.Val410Leu 4 359 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 0.006722 0.003347 0.003008 0.002024 0.001809 0.001180 0.011927 0.017199 0.008897 0.017199 249 8 19 2 11 5 180 14 10 37044 2390 6316 988 6082 4238 15092 814 1124 0.002376 0.002510 0.000317 0.002024 0.000987 0.000000 0.004506 0.000000 0.003559 44 3 1 1 3 0 34 0 2 161 2 17 0 5 5 112 14 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -5.525 V Val GTG 0.468 L Leu CTG 0.404 410 1 1 1 0 0 5.IX 4.IX 84 111 32 218 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.G1228C:p.V410L . . 0.20833333 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.001 . . 168.0 . . . . . . . . . . -2.9056 -2.942 -2.906 c . . . . . 7.645e-04 . . . 0 0 . . . 0 . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.091 . . exonic exonic exonic . . 0.059 @ . . . 0.38 0.29 182 ENSG00000232423 . . . . . 1.000 0.439 . . . . . . . Uncertain_significance . 0 . 0.047 . . . . T 0.001 0.000 . . 37 . 0.028 . . 0.336 . . . 0.007 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.001 . 0.080 . HET 0.71 rs201734466 . . . . . . . . . . . . 0.2072 . . I.29 -2.57 . 1.000000 . . . . . . 0.002 . . . 0.0034 0.0066 0.0029 0.0020 0.0018 0.0149 0.0122 0.0093 0.0012 0 0.0095 0.0357 0 0 0.0216 0.0040 0 . . 0.133 . -5.716 -5.716000 . . 1.000000 . . 1.0E-218 0.000 0.063 . 0.016 0.001 . 0.081 . 0.008 -5.716 -1.209 . . . rs74702454 rs201734466 1 1538 10 1/0 0,214,255 +rs2982185 1 12998792 T C - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998792 12998792 Chr1(GRCh37):g.12998792T>C 1144 1144 NM_001010889.2:c.1144A>G p.Thr382Ala p.Thr382Ala 4 275 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs2982185 yes no Frequency 1 T 0.000000 0 0.000057 0.000432 0.000162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000432 2 1 1 0 0 0 0 0 0 35314 2316 6188 922 5910 4116 14292 516 1054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5425021 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -0.360 T Thr ACC 0.361 A Ala GCC 0.403 382 0 0 0 0.71 0 8.VI 8.I 61 31 58 244 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.A1144G:p.T382A . . 0.2857143 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.029 . . 189.0 . . . . . . . . . . -1.3056 -1.458 -1.306 c . . . . . 4.191e-04 . . . 0 0 . . . 0 . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.095 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.173 . . . . T 0.014 0.001 . . 37 . 0.091 . . 0.229 . . . 0.601 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.564 . . 0 0 0 0 0 0 . 0.257 . . 0.268 . . . . . . 0 0.386 . . . . . 0.114 . 0.084 . HET 0.11 rs2982185 . . . . . . . . . . . . IV.99 . . I.53 -1.47 . 0.070000 . . . . . . 0.015 . . . 0.0004 5.694e-05 0.0002 0 0 0 0 0 0 0 0 0 . 0 0 0 0 . . 0.133 . -0.392 -0.392000 . . 0.070000 . . 1.0000000000000001E-244 0.000 0.063 . 0.016 0.001 . 0.101 . 0.032 -0.392 -0.063 . rs28581453 rs28581453 rs28581453 rs28581453 1 1538 10 1/0 0,215,255 +rs2994102 1 12998793 G A - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 12998793 12998793 Chr1(GRCh37):g.12998793G>A 1143 1143 NM_001010889.2:c.1143C>T p.Asn381= p.Asn381Asn 4 274 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 Cryptic Acceptor Strongly Activated 12998784 1.54238 0.07703 74.4219 2.40828 0.112645 77.1338 rs2994102 yes no Frequency 1 G 0.000000 0 0.000028 0.000426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000426 1 1 0 0 0 0 0 0 0 35874 2350 6380 948 5996 4178 14410 528 1084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5425022 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -2.377 N Asn AAC 0.536 N Asn AAT 0.464 381 235 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1143T:p.N381N . . 0.25668448 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.7625 . . . . . . . . 4.167e-04 . . . 0 0 . . . 0 . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2994102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 2.802e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs28482402 rs28482402 rs28482402 rs28482402 1 1538 10 1/0 0,213,255 +rs11578354 1 12998873 G A - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 12998873 12998873 Chr1(GRCh37):g.12998873G>A 1063 1063 NM_001010889.2:c.1063C>T p.Leu355= p.Leu355Leu 4 194 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 Cryptic Acceptor Strongly Activated 12998863 2.72265 0.029682 65.3736 3.12998 0.052052 68.6563 rs11578354 yes no Frequency 1 G 0.000000 0 0.000111 0.000446 0.000147 0.000000 0.000000 0.000000 0.000143 0.000000 0.000000 0.000446 4 1 1 0 0 0 2 0 0 35934 2242 6822 920 6010 4238 14000 622 1080 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5427821 Haematopoietic and lymphoid tissue 0.000567 3530 transition C T C>T 0.008 0.205 L Leu CTG 0.404 L Leu TTG 0.127 355 213 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.C1063T:p.L355L . . 0.19277108 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . -0.1239 . . . . . . . . 2.464e-04 . . . 0 0.0104 0 0 0 0.0128 . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11578354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0.0001 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs11578354 rs11578354 rs11578354 rs113366699 1 1538 10 1/0 0,213,255 +rs6604962 1 12998905 A G - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 12998905 12998905 Chr1(GRCh37):g.12998905A>G 1031 1031 NM_001010889.2:c.1031T>C p.Leu344Pro p.Leu344Pro 4 162 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 Cryptic Acceptor Strongly Activated 12998899 5.54662 0.071191 70.5097 7.26966 0.087356 68.4064 rs6604962 no no 0 A 0.000000 0 0.004904 0.000000 0.000154 0.001171 0.028467 0.000247 0.000739 0.000000 0.000000 0.028467 169 0 1 1 156 1 10 0 0 34462 2172 6494 854 5480 4044 13530 852 1036 0.000174 0.000000 0.000000 0.000000 0.000730 0.000000 0.000148 0.000000 0.000000 3 0 0 0 2 0 1 0 0 163 0 1 1 152 1 8 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6294018|COSM6294018 Thyroid|Liver 0.001339|0.000422 747|2371 transition T C T>C 0.000 1.013 L Leu CTC 0.197 P Pro CCC 0.328 344 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 174 PASS . . . . . . . . . . . . . PRAMEF6:NM_001010889:exon4:c.T1031C:p.L344P . . 0.1017964 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.445 . @ . . . . . 1 0.616 . . 167.0 . . . . . . . . . . -0.0250 -0.387 -0.025 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.039 . . exonic exonic exonic . . 0.221 @ . . . . . . ENSG00000232423 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.002 0.001 . . 37 . 0.239 . . 0.037 . . . 0.934 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.891 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.614 . . . . . 0.146 . 0.667 . LowAF 0.01 rs6604962 . . . . . . . . . . . . 5.217 . . I.53 I.53 . 0.010000 . . . . . . 0.094 . . . 0 0.0050 0.0002 0.0012 0.0285 0 0.0008 0 0.0002 0 0 0 0 0 0 0 0 . . 0.133 . 0.958 0.958000 . . 0.010000 . . 1.0E-174 0.243 0.246 . 0.090 0.043 . 0.487 . 0.310 0.958 0.960 . rs6604962 rs6604962 rs6604962 rs6604962 1 1538 10 1/0 0,204,255 +. 1 13002102 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 13002102 13002102 Chr1(GRCh37):g.13002102C>T 247 247 NM_001010889.2:c.247G>A p.Asp83Asn p.Asp83Asn 2 -41 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.56409 0 transition G A G>A 0.047 1.174 D Asp GAT 0.461 N Asn AAT 0.464 83 2 1 2 I.38 I.33 13 11.VI 54 56 23 182 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.G247A:p.D83N PRAMEF6:NM_001010889:exon2:c.G247A:p.D83N . . 0.118644066 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.476 . @ . . . . . 1 0.776 . . 59.0 . . . . . . . . . . -0.2746 -0.563 -0.275 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.059 . . exonic exonic exonic . . 0.222 @ . . . . . . ENSG00000232423 PRAMEF6 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.125 . . . . T 0.010 0.001 . . 37 . 0.154 . . 0.085 . . . 0.798 0.189 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.722 . . 0 0 0 0 0 0 . 0.585 . . 0.528 . . . . . . 0 0.682 . . . . . 0.216 . 0.241 . LowAF 0 . . . . . . . . . . . . . VI.69 . . I.54 I.54 . 0.000000 Q5VXH4 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.164 1.164000 . . 0.000000 . . 1.0E-182 0.000 0.063 . 0.043 0.085 . 0.163 . 0.287 1.164 0.493 . . . . . 1 1538 10 1/0 0,250,255 +. 1 13002120 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 13002120 13002120 Chr1(GRCh37):g.13002120C>T 229 229 NM_001010889.2:c.229G>A p.Ala77Thr p.Ala77Thr 2 -59 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 8.22629 0 0.001548 0.000000 0.002344 0.000000 0.000000 0.001193 0.000000 0.000000 0.000000 0.002344 4 0 3 0 0 1 0 0 0 2584 4 1280 0 180 838 132 6 144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 3 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.924 A Ala GCC 0.403 T Thr ACC 0.361 77 0 0 0 0 0.71 8.I 8.VI 31 61 58 202 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.G229A:p.A77T PRAMEF6:NM_001010889:exon2:c.G229A:p.A77T . . 0.16666667 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.000 . . 66.0 . . . . . . . . . . -2.1037 -2.074 -2.104 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.050 @ . . . . . . ENSG00000232423 PRAMEF6 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.046 . . . . T 0.002 0.000 . . 37 . 0.020 . . 0.418 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.199 . 0.199 . HET 1 . . . . . . . . . . . . . VI.23 . . I.54 -3.07 . 1.000000 Q5VXH4 . . . . . 0.003 . . . 0 0.0015 0.0023 . 0 0 0 0 0.0012 . . . . . . . . . . 0.133 . -0.968 -0.968000 . . 1.000000 . . 1.0E-202 0.000 0.063 . 0.043 0.001 . 0.023 . 0.114 -0.968 -1.402 . . . . . 1 1538 10 1/0 0,249,255 +. 1 13002181 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 13002181 13002181 Chr1(GRCh37):g.13002181C>T 168 168 NM_001010889.2:c.168G>A p.Val56= p.Val56Val 2 -120 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.84359 0 Cryptic Donor Strongly Activated 13002184 0.005056 58.8643 3.49948 0.070451 63.2266 0.004972 0.000000 0.004280 0.000000 0.000000 0.007955 0.006098 0.000000 0.000000 0.007955 14 0 6 0 0 7 1 0 0 2816 6 1402 0 210 880 164 8 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 6 0 0 7 1 0 0 0 0 0 0 0 0 0 0 0 RF 122 Exomes transition G A G>A 0.161 -0.198 V Val GTG 0.468 V Val GTA 0.114 56 224 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.G168A:p.V56V PRAMEF6:NM_001010889:exon2:c.G168A:p.V56V . . 0.2247191 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 0.1881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF6 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0050 0.0043 . 0 0 0.0061 0 0.0080 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,241,255 +. 1 13002280 C T - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution synonymous exon GRCh37 13002280 13002280 Chr1(GRCh37):g.13002280C>T 69 69 NM_001010889.2:c.69G>A p.Leu23= p.Leu23Leu 2 91 3' 74.0275 2.64252 0.042293 3.62516 74.0275 2.64252 0.042293 3.62516 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 602 2 346 0 16 192 10 0 36 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 0.205 L Leu TTG 0.127 L Leu TTA 0.073 23 182 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.G69A:p.L23L PRAMEF6:NM_001010889:exon2:c.G69A:p.L23L . . 0.11764706 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.1813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF6 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . 0 0 0 . 0 . . . . 0 . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs75596119 rs75596119 1 1538 10 1/0 0,244,255 +rs61779373 1 13002300 G C - PRAMEF6 30583 PRAME family member 6 NM_001010889.2 -1 1720 1431 NP_001010889.1 Q5VXH4 substitution missense exon GRCh37 13002300 13002300 Chr1(GRCh37):g.13002300G>C 49 49 NM_001010889.2:c.49C>G p.Leu17Val p.Leu17Val 2 71 3' 74.0275 2.64252 0.042293 3.62516 74.0275 2.64252 0.042293 3.83351 0 rs61779373 no no 0 G 0.000000 0 0.008929 0.000000 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.015152 2 0 2 0 0 0 0 0 0 224 2 132 0 2 74 2 0 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 610 Exomes COSM5425160|COSM5425160 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000567 747|3530 transversion C G C>G 0.000 0.125 L Leu CTG 0.404 V Val GTG 0.468 17 1 1 1 0 0 4.IX 5.IX 111 84 32 255 PASS . . . . . . . . . . . . PRAMEF6:uc001auq.2:exon2:c.C49G:p.L17V PRAMEF6:NM_001010889:exon2:c.C49G:p.L17V . . 0.33333334 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.260 . @ . . . . . 1 0.625 . . 54.0 . . . . . . . . . . -0.2075 -0.541 -0.208 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.160 @ . . . . . . ENSG00000232423 PRAMEF6 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.340 . . . . T 0.038 0.002 . . 37 . 0.354 . . 0.078 . . . 0.886 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.589 . . 0 0 0 0 0 0 . 0.670 . . 0.754 . . . . . . 0 0.574 . . . . . 0.158 . 0.360 . HET 0 rs61779373 . . . . . . . . . . . . V.07 . . I.54 0.485 . 0.010000 Q5VXH4 . . . . . 0.101 . . . 0 0.0089 0.0152 . 0 . 0 0 0 . . . . . . . . . . 0.133 . 0.168 0.168000 . . 0.010000 . . 1.0E-255 0.156 0.235 . 0.151 0.076 . 0.417 . 0.294 0.168 0.518 . rs61779373 rs61779373 rs61779373 rs61779373 1 1538 10 1/0 0,255,255 +rs2359265 1 13108899 C T - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13108899 13108899 Chr1(GRCh37):g.13108899C>T 1370 1370 ENST00000622421.2:c.1370G>A p.Cys457Tyr p.Cys457Tyr 4 501 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 rs2359265 yes no Frequency/1000G 2 0.000000 0 0.001198 0.000000 0.000000 0.002000 0.002000 0.002900 0.001392 0.000000 0.001043 0.014946 0.000000 0.000000 0.002030 0.000929 0.000000 0.014946 53 0 6 11 0 0 31 5 0 38080 3662 5750 736 3754 2530 15268 5380 1000 0.000893 0.000000 0.000696 0.010870 0.000000 0.000000 0.001179 0.000743 0.000000 17 0 2 4 0 0 9 2 0 19 0 2 3 0 0 13 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.974 C Cys TGC 0.552 Y Tyr TAC 0.562 457 12 1 -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 227.18 0.00 Tolerated 1 II.65 247 PASS . . . . . . 0.0012 0.0029 0.002 0.002 . . PRAMEF5:uc001aus.1:exon4:c.G1370A:p.C457Y PRAMEF5:NM_001013407:exon4:c.G1370A:p.C457Y . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 16.0 . . . . . . . . . . -1.8310 . . . . . . . . 2.574e-03 . . . 0 0.0021 0 0 0 0.0033 0 0 0 0.0012 0 0 0 0.0056 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic\x3bsplicing . . . @ . . . 0.37 0.34 182 ENSG00000232423 PRAMEF5 . . . NM_001310134:exon3:c.1375+1G>A\x3bNM_001306072:exon3:c.1375+1G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET 0.25 rs200601438 . . . . . . . . . . . . III.48 . . I.21 -2.41 . 0.280000 A6NMV5 . . . . . . . . . 0 0.0012 0.0011 0.0160 0 0.0006 0.0015 0 0 0 0.0031 0 0 0 0.0029 0.0051 0 . . . . -2.150 -2.150000 . . 0.280000 . . 1.0E-247 . . . . . . . . . -2.150 . . . . rs77498625 rs200601438 1 1538 10 1/0 0,255,255 +rs3895156 1 13109206 G A - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13109206 13109206 Chr1(GRCh37):g.13109206G>A 1063 1063 ENST00000622421.2:c.1063C>T p.Leu355= p.Leu355Leu 4 194 3' 82.2554 11.661 0.99175 X.01 82.2554 11.661 0.99175 X.01 0 Cryptic Acceptor Strongly Activated 13109196 2.72265 0.029682 65.3736 3.12998 0.052052 68.6563 rs3895156 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16076 1496 3042 340 1850 1658 6580 606 504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.142 0.932 L Leu CTG 0.404 L Leu TTG 0.127 355 255 PASS . . . . . . . . . . . . PRAMEF5:uc001aus.1:exon4:c.C1063T:p.L355L . . . 0.39285713 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . 0.0934 -0.153 0.093 n . . . . . 6.124e-04 . . . . 0 0 0 . 0 0 0 . 0 0 0 . 0 . 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.201 @ . . . . . . ENSG00000232423 PRAMEF5 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.175 . . . HET . rs778888053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.133 . . . . . . . . 1.0E-255 0.041 0.208 . 0.043 . . 0.246 . 0.039 . . . rs11578354 rs11578354 rs11578354 rs113366699 1 1538 10 1/0 0,255,255 +. 1 13111295 G A - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13111295 13111295 Chr1(GRCh37):g.13111295G>A 720 720 ENST00000622421.2:c.720C>T p.Ser240= p.Ser240Ser 3 -150 5' 90.6189 10.0684 0.96451 5.11412 90.6189 10.0684 0.96451 5.11412 0 transition C T C>T 0.000 -0.360 S Ser TCC 0.220 S Ser TCT 0.185 240 178 PASS . . . . . . . . . . . . . . . . 0.10810811 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 185.0 . . . . . . . . . . -0.3291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs2023352 rs2023352 rs2023352 rs2023352 1 1538 10 1/0 0,200,255 +. 1 13111337 T C - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13111337 13111337 Chr1(GRCh37):g.13111337T>C 678 678 ENST00000622421.2:c.678A>G p.Pro226= p.Pro226Pro 3 -192 5' 90.6189 10.0684 0.96451 5.11412 90.6189 10.0684 0.96451 5.11412 0 transition A G A>G 0.004 -0.844 P Pro CCA 0.274 P Pro CCG 0.115 226 209 PASS . . . . . . . . . . . . . . . . 0.18134715 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 193.0 . . . . . . . . . . -0.3208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +. 1 13111650 T C - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13111650 13111650 Chr1(GRCh37):g.13111650T>C 365 365 ENST00000622421.2:c.365A>G p.His122Arg p.His122Arg 3 78 3' 91.5957 XI.51 0.983765 8.52884 91.5957 XI.51 0.983765 9.08819 0 New Donor Site 13111651 2.63157 0.015982 63.3317 0.001762 0.003469 0.001255 0.000000 0.001971 0.000000 0.001138 0.006098 0.001894 0.006098 64 25 8 0 7 0 15 7 2 36332 7206 6376 720 3552 3088 13186 1148 1056 0.000275 0.000000 0.000627 0.000000 0.001126 0.000000 0.000152 0.000000 0.000000 5 0 2 0 2 0 1 0 0 54 25 4 0 3 0 13 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -4.072 H His CAT 0.413 R Arg CGT 0.082 122 12 6 Horse 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 65.67 0.00 Tolerated 0.88 II.65 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 34.0 . . . . . . . . . . -2.2317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.36 182 ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.37 rs201024050 . . . . . . . . . . . . IV.09 . . I.21 -2.41 . 0.360000 . . . . . . . . . . 0.0003 0.0006 0.0013 0 0.0015 0 0.0003 0.0012 0 0.0073 0.0061 0 0 0.01 0.0094 0.0042 0.005 . . . . -4.265 -4.265000 . . 0.360000 . . 1.0E-255 . . . . . . . . . -4.265 . . rs2486697 rs2486697 rs2486697 rs201024050 1 1538 10 1/0 0,255,255 +. 1 13112400 T C - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13112400 13112400 Chr1(GRCh37):g.13112400T>C 281 281 ENST00000622421.2:c.281A>G p.His94Arg p.His94Arg 2 -7 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.965256 8.25011 -0.00133761 Cryptic Donor Strongly Activated 13112405 0.010585 55.1721 0.981326 0.31737 67.3237 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.086 H His CAT 0.413 R Arg CGT 0.082 94 12 2 Pig 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 242.52 0.00 Tolerated 1 II.82 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 32.0 . . . . . . . . . . -2.1204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . II.87 . . I.21 -2.41 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.143 -1.143000 . . 1.000000 . . 1.0E-197 . . . . . . . . . -1.143 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13112401 G A - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13112401 13112401 Chr1(GRCh37):g.13112401G>A 280 280 ENST00000622421.2:c.280C>T p.His94Tyr p.His94Tyr 2 -8 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.14667 0 Cryptic Acceptor Weakly Activated 13112393 2.24177 0.457564 76.6334 2.49949 0.493134 78.4432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 0.044 H His CAT 0.413 Y Tyr TAT 0.438 94 12 2 Pig 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 242.52 46.92 Tolerated 0.06 II.82 194 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 34.0 . . . . . . . . . . -0.8230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.01 . . . . . . . . . . . . . 3.392 . . I.21 0.203 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.066 0.066000 . . 0.000000 . . 1.0E-194 . . . . . . . . . 0.066 . . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,255,255 +rs758125604 1 13112426 C A - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13112426 13112426 Chr1(GRCh37):g.13112426C>A 255 255 ENST00000622421.2:c.255G>T p.Leu85= p.Leu85Leu 2 -33 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.62468 0 rs758125604 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G T G>T 0.008 -0.602 L Leu CTG 0.404 L Leu CTT 0.129 85 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.6573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.31 182 ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758125604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . rs6604939 rs6604939 rs6604939 rs6604939 1 1538 10 1/0 0,255,255 +. 1 13112513 C T - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution synonymous exon GRCh37 13112513 13112513 Chr1(GRCh37):g.13112513C>T 168 168 ENST00000622421.2:c.168G>A p.Val56= p.Val56Val 2 -120 5' 90.6189 10.0684 0.969145 7.84359 90.6189 10.0684 0.969145 7.84359 0 Cryptic Donor Strongly Activated 13112516 0.005056 58.8643 3.49948 0.070451 63.2266 transition G A G>A 0.823 0.932 V Val GTG 0.468 V Val GTA 0.114 56 198 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . 0.4770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232423 PRAMEF5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,234,255 +. 1 13112632 G C - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13112632 13112632 Chr1(GRCh37):g.13112632G>C 49 49 ENST00000622421.2:c.49C>G p.Leu17Val p.Leu17Val 2 71 3' 74.0275 2.64252 0.042293 3.62516 74.0275 2.64252 0.042293 3.83351 0 transversion C G C>G 0.157 0.932 L Leu CTG 0.404 V Val GTG 0.468 17 12 10 Pig 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 30.92 0.00 Tolerated 0.4 II.65 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.377 . @ . . . . . 1 0.615 . . 60.0 . . . . . . . . . . -0.2174 -0.540 -0.217 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.502 . . exonic exonic exonic . . 0.201 @ . . . 0.37 0.28 182 ENSG00000232423 PRAMEF5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.340 . . . . T 0.045 0.002 . . 37 . 0.362 . . 0.034 . . . 0.887 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.623 . . 0 0 0 0 0 0 . 0.764 . . 0.875 . . . . . . 0 0.912 . . . . . 0.175 . 0.294 . HET 0 . . . . . . . . . . . . . V.96 . . I.21 I.21 . 0.010000 . . . . . . 0.074 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.962 0.962000 . . 0.010000 . . 1.0E-255 0.084 0.222 . 0.175 0.019 . 0.218 . 0.286 0.962 0.518 . rs61779373 rs61779373 rs61779373 rs61779373 1 1538 10 1/0 0,255,255 +. 1 13112634 C T - PRAMEF5 27995 PRAME family member 5 ENST00000622421.2 -1 1720 1431 ENSP00000480122 Q5TYX0 substitution missense exon GRCh37 13112634 13112634 Chr1(GRCh37):g.13112634C>T 47 47 ENST00000622421.2:c.47G>A p.Ser16Asn p.Ser16Asn 2 69 3' 74.0275 2.64252 0.042293 3.62516 74.0275 2.64252 0.042293 3.48429 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.157 0.932 S Ser AGC 0.243 N Asn AAC 0.536 16 12 9 Horse 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 126.06 0.00 Tolerated 0.25 II.65 194 PASS . . . . . . . . . . . . . . . . 0.14545454 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.170 . @ . . . . . 1 0.237 . . 55.0 . . . . . . . . . . -0.6255 -0.835 -0.625 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.201 @ . . . 0.37 0.27 182 ENSG00000232423 PRAMEF5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.348 . . . . T 0.004 0.001 . . 37 . 0.099 . . 0.118 . . . 0.767 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.353 . . 0.380 . . . . . . 0 . . . . . . 0.175 . 0.222 . LowAF 0.1 . . . . . . . . . . . . . V.96 . . I.21 I.21 . 0.040000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.962 0.962000 . . 0.040000 . . 1.0E-194 0.001 0.137 . 0.159 0.007 . 0.082 . 0.282 0.962 0.493 . rs7552626 rs7552626 rs7552626 rs7552626 1 1538 10 1/0 0,255,255 +rs771860483 (chr1:13140576 G/A) 1 13140576 G A Not on a known gene +. (chr1:13144618 C/T) 1 13144618 C T Not on a known gene +rs113366699 (chr1:13144632 C/T) 1 13144632 C T Not on a known gene +. (chr1:13144712 C/T) 1 13144712 C T Not on a known gene +. (chr1:13144713 A/G) 1 13144713 A G Not on a known gene +rs1966160 (chr1:13219438 C/T) 1 13219438 C T Not on a known gene +rs185031606 (chr1:13219631 C/T) 1 13219631 C T Not on a known gene +rs56276757 (chr1:13329186 C/A) 1 13329186 C A Not on a known gene +rs28687701 (chr1:13329189 G/C) 1 13329189 G C Not on a known gene +. (chr1:13329337 A/G) 1 13329337 A G Not on a known gene +rs56101354 (chr1:13329350 A/T) 1 13329350 A T Not on a known gene +. (chr1:13329354 T/C) 1 13329354 T C Not on a known gene +rs56066665 (chr1:13329391 T/C) 1 13329391 T C Not on a known gene +rs61780078 (chr1:13330627 G/A) 1 13330627 G A Not on a known gene +. (chr1:13352193 C/T) 1 13352193 C T Not on a known gene +rs751264340 (chr1:13364959 G/A) 1 13364959 G A Not on a known gene +. (chr1:13365170 C/T) 1 13365170 C T Not on a known gene +. (chr1:13365171 A/G) 1 13365171 A G Not on a known gene +. (chr1:13366234 A/G) 1 13366234 A G Not on a known gene +. (chr1:13366276 C/T) 1 13366276 C T Not on a known gene +rs200895952 (chr1:13366377 C/A) 1 13366377 C A Not on a known gene +rs11578329 (chr1:13368536 C/G) 1 13368536 C G Not on a known gene +rs7417152 (chr1:13368550 C/G) 1 13368550 C G Not on a known gene +. (chr1:13368564 A/G) 1 13368564 A G Not on a known gene +rs879464995 (chr1:13387093 C/G) 1 13387093 C G Not on a known gene +. (chr1:13412263 G/A) 1 13412263 G A Not on a known gene +. 1 13424057 C G - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424057 13424057 Chr1(GRCh37):g.13424057C>G 55 55 NM_001098376.2:c.55C>G p.Leu19Val p.Leu19Val 2 71 3' 74.0275 2.64252 0.026528 3.08331 74.0275 2.64252 0.026528 3.29166 0 COSM6388606 Thyroid 0.004016 747 transversion C G C>G 0.008 -0.037 L Leu CTG 0.404 V Val GTG 0.468 19 14 7 Little brown bat 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.51 II.76 good 1.124E-1 0.0004207 213 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C55G:p.L19V PRAMEF9:uc001auw.1:exon2:c.C55G:p.L19V . . . 0.19444445 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.4825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . 4.0212 . ENST00000376152 1.III -0.228 . 0.090000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.053 -0.053000 . . 0.090000 . . 1.0E-213 . . . . . . . . . -0.053 . . . . . . 1 1538 10 1/0 0,248,255 +. (chr1:13424057 C/G) 1 13424057 C G Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424057 C/G) 1 13424057 C G Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424057 C G - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution missense exon GRCh37 13424057 13424057 Chr1(GRCh37):g.13424057C>G 55 55 NM_001300891.1:c.55C>G p.Leu19Val p.Leu19Val 1 -239 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.49847 0 COSM6388606 Thyroid 0.004016 747 transversion C G C>G 0.008 -0.037 L Leu CTG 0.404 V Val GTG 0.468 19 1 1 1 0 0 4.IX 5.IX 111 84 32 213 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C55G:p.L19V PRAMEF9:uc001auw.1:exon2:c.C55G:p.L19V . . . 0.19444445 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.4825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . 4.0212 . ENST00000376152 1.III -0.228 . 0.090000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.053 -0.053000 . . 0.090000 . . 1.0E-213 . . . . . . . . . -0.053 . . . . . . 1 1538 10 1/0 0,248,255 +. 1 13424057 C G - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424057 13424057 Chr1(GRCh37):g.13424057C>G 55 55 NM_001010890.2:c.55C>G p.Leu19Val p.Leu19Val 1 -239 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.71737 0 COSM6388606 Thyroid 0.004016 747 transversion C G C>G 0.008 -0.037 L Leu CTG 0.404 V Val GTG 0.468 19 12 9 Pig 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 235.27 0.00 Tolerated 0.42 II.62 213 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C55G:p.L19V PRAMEF9:uc001auw.1:exon2:c.C55G:p.L19V . . . 0.19444445 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.4825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . 4.0212 . ENST00000376152 1.III -0.228 . 0.090000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.053 -0.053000 . . 0.090000 . . 1.0E-213 . . . . . . . . . -0.053 . . . . . . 1 1538 10 1/0 0,248,255 +. 1 13424074 T C - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution synonymous exon GRCh37 13424074 13424074 Chr1(GRCh37):g.13424074T>C 72 72 NM_001098376.2:c.72T>C p.Ala24= p.Ala24Ala 2 88 3' 74.0275 2.64252 0.026528 3.08331 74.0275 2.64252 0.026528 3.08331 0 transition T C T>C 0.000 -0.037 A Ala GCT 0.263 A Ala GCC 0.403 24 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T72C:p.A24A PRAMEF9:uc001auw.1:exon2:c.T72C:p.A24A . . . 0.43037975 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.29 0.23 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2933094 rs2933094 rs2933094 rs2933094 1 1538 10 1/0 0,255,255 +. (chr1:13424074 T/C) 1 13424074 T C Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424074 T/C) 1 13424074 T C Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. (chr1:13424074 T/C) 1 13424074 T C Transcript NM_001300891.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF27 +. (chr1:13424074 T/C) 1 13424074 T C Transcript NM_001010890.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF9 +. 1 13424150 C T - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424150 13424150 Chr1(GRCh37):g.13424150C>T 148 148 NM_001098376.2:c.148C>T p.Arg50Cys p.Arg50Cys 2 -146 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.99503 0 COSM1600019|COSM1600019|COSM1600019 Thyroid|Large intestine|Central nervous system 0.002677|0.000450|0.000424 747|2220|2361 transition C T C>T 0.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 50 14 5 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.19 II.63 good 1.053E-1 0.2187 206 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C148T:p.R50C PRAMEF9:uc001auw.1:exon2:c.C148T:p.R50C . . . 0.17355372 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.9774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . ID\x3dCOSM1600019\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . V.63 . ENST00000376152 1.VII 1.VII . 0.060000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.868 0.868000 . . 0.060000 . . 1.0E-206 . . . . . . . . . 0.868 . . . . . . 1 1538 10 1/0 0,224,255 +. 1 13424150 C T - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution missense exon GRCh37 13424150 13424150 Chr1(GRCh37):g.13424150C>T 148 148 ENST00000619661.2:c.148C>T p.Arg50Cys p.Arg50Cys 2 -146 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.77737 0 COSM1600019|COSM1600019|COSM1600019 Thyroid|Large intestine|Central nervous system 0.002677|0.000450|0.000424 747|2220|2361 transition C T C>T 0.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 50 12 5 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 226.45 0.00 Tolerated 0.08 II.63 206 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C148T:p.R50C PRAMEF9:uc001auw.1:exon2:c.C148T:p.R50C . . . 0.17355372 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.9774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . ID\x3dCOSM1600019\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . V.63 . ENST00000376152 1.VII 1.VII . 0.060000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.868 0.868000 . . 0.060000 . . 1.0E-206 . . . . . . . . . 0.868 . . . . . . 1 1538 10 1/0 0,224,255 +. 1 13424150 C T - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution missense exon GRCh37 13424150 13424150 Chr1(GRCh37):g.13424150C>T 148 148 NM_001306072.1:c.148C>T p.Arg50Cys p.Arg50Cys 1 -146 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.77737 0 COSM1600019|COSM1600019|COSM1600019 Thyroid|Large intestine|Central nervous system 0.002677|0.000450|0.000424 747|2220|2361 transition C T C>T 0.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 50 12 5 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 262.60 0.00 Deleterious 0.01 II.55 206 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C148T:p.R50C PRAMEF9:uc001auw.1:exon2:c.C148T:p.R50C . . . 0.17355372 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.9774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . ID\x3dCOSM1600019\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . V.63 . ENST00000376152 1.VII 1.VII . 0.060000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.868 0.868000 . . 0.060000 . . 1.0E-206 . . . . . . . . . 0.868 . . . . . . 1 1538 10 1/0 0,224,255 +. (chr1:13424150 C/T) 1 13424150 C T Transcript NM_001300891.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PRAMEF27 +. 1 13424150 C T - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424150 13424150 Chr1(GRCh37):g.13424150C>T 148 148 NM_001010890.2:c.148C>T p.Arg50Cys p.Arg50Cys 1 -146 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.71737 0 COSM1600019|COSM1600019|COSM1600019 Thyroid|Large intestine|Central nervous system 0.002677|0.000450|0.000424 747|2220|2361 transition C T C>T 0.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 50 12 6 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 241.74 79.30 Deleterious 0 II.62 206 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C148T:p.R50C PRAMEF9:uc001auw.1:exon2:c.C148T:p.R50C . . . 0.17355372 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.9774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . ID\x3dCOSM1600019\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . V.63 . ENST00000376152 1.VII 1.VII . 0.060000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.868 0.868000 . . 0.060000 . . 1.0E-206 . . . . . . . . . 0.868 . . . . . . 1 1538 10 1/0 0,224,255 +. 1 13424176 G A - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution synonymous exon GRCh37 13424176 13424176 Chr1(GRCh37):g.13424176G>A 174 174 NM_001098376.2:c.174G>A p.Val58= p.Val58Val 2 -120 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.99503 0 Cryptic Donor Strongly Activated 13424173 0.005056 58.8643 3.49948 0.070451 63.2266 COSM3930316|COSM3930316 Urinary tract|Haematopoietic and lymphoid tissue 0.001488|0.000567 672|3530 transition G A G>A 0.327 0.851 V Val GTG 0.468 V Val GTA 0.114 58 229 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G174A:p.V58V PRAMEF9:uc001auw.1:exon2:c.G174A:p.V58V . . . 0.24060151 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.1950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.2 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930316\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,226,255 +. (chr1:13424176 G/A) 1 13424176 G A Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424176 G/A) 1 13424176 G A Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424176 G A - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution synonymous exon GRCh37 13424176 13424176 Chr1(GRCh37):g.13424176G>A 174 174 NM_001300891.1:c.174G>A p.Val58= p.Val58Val 1 -120 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.49847 0 Cryptic Donor Strongly Activated 13424173 0.005056 58.8643 3.49948 0.070451 63.2266 COSM3930316|COSM3930316 Urinary tract|Haematopoietic and lymphoid tissue 0.001488|0.000567 672|3530 transition G A G>A 0.327 0.851 V Val GTG 0.468 V Val GTA 0.114 58 229 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G174A:p.V58V PRAMEF9:uc001auw.1:exon2:c.G174A:p.V58V . . . 0.24060151 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.1950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.2 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930316\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,226,255 +. 1 13424176 G A - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution synonymous exon GRCh37 13424176 13424176 Chr1(GRCh37):g.13424176G>A 174 174 NM_001010890.2:c.174G>A p.Val58= p.Val58Val 1 -120 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.71737 0 Cryptic Donor Strongly Activated 13424173 0.005056 58.8643 3.49948 0.070451 63.2266 COSM3930316|COSM3930316 Urinary tract|Haematopoietic and lymphoid tissue 0.001488|0.000567 672|3530 transition G A G>A 0.327 0.851 V Val GTG 0.468 V Val GTA 0.114 58 229 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G174A:p.V58V PRAMEF9:uc001auw.1:exon2:c.G174A:p.V58V . . . 0.24060151 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.1950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.2 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930316\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,226,255 +. 1 13424237 G A - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424237 13424237 Chr1(GRCh37):g.13424237G>A 235 235 NM_001098376.2:c.235G>A p.Ala79Thr p.Ala79Thr 2 -59 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 8.37774 0 COSM5427583|COSM5427583 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.000 -0.602 A Ala GCC 0.403 T Thr ACC 0.361 79 14 2 Chimp 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.87 II.54 good 8.889E-1 0.4742 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G235A:p.A79T PRAMEF9:uc001auw.1:exon2:c.G235A:p.A79T . . . 0.35460994 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 141.0 . . . . . . . . . . -1.6605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.33 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . IV.09 . ENST00000376152 1.V -2.1 . 1.000000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.671 -0.671000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.671 . . . . rs75875937 rs75875937 1 1538 10 1/0 0,235,255 +. (chr1:13424237 G/A) 1 13424237 G A Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424237 G/A) 1 13424237 G A Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424237 G A - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution missense exon GRCh37 13424237 13424237 Chr1(GRCh37):g.13424237G>A 235 235 NM_001300891.1:c.235G>A p.Ala79Thr p.Ala79Thr 1 -59 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.88117 0 COSM5427583|COSM5427583 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.000 -0.602 A Ala GCC 0.403 T Thr ACC 0.361 79 0 0 0 0 0.71 8.I 8.VI 31 61 58 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G235A:p.A79T PRAMEF9:uc001auw.1:exon2:c.G235A:p.A79T . . . 0.35460994 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 141.0 . . . . . . . . . . -1.6605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.33 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . IV.09 . ENST00000376152 1.V -2.1 . 1.000000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.671 -0.671000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.671 . . . . rs75875937 rs75875937 1 1538 10 1/0 0,235,255 +. 1 13424237 G A - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424237 13424237 Chr1(GRCh37):g.13424237G>A 235 235 NM_001010890.2:c.235G>A p.Ala79Thr p.Ala79Thr 1 -59 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 8.10007 0 COSM5427583|COSM5427583 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.000 -0.602 A Ala GCC 0.403 T Thr ACC 0.361 79 12 3 Cat 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 241.08 0.00 Tolerated 0.51 II.62 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G235A:p.A79T PRAMEF9:uc001auw.1:exon2:c.G235A:p.A79T . . . 0.35460994 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 141.0 . . . . . . . . . . -1.6605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.33 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . IV.09 . ENST00000376152 1.V -2.1 . 1.000000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.671 -0.671000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.671 . . . . rs75875937 rs75875937 1 1538 10 1/0 0,235,255 +. 1 13424255 G A - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424255 13424255 Chr1(GRCh37):g.13424255G>A 253 253 NM_001098376.2:c.253G>A p.Asp85Asn p.Asp85Asn 2 -41 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.71554 0 COSM5480716 Large intestine 0.000450 2220 transition G A G>A 0.028 -0.037 D Asp GAT 0.461 N Asn AAT 0.464 85 14 6 Little brown bat 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.65 II.54 good 9.422E-1 0.5114 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G253A:p.D85N PRAMEF9:uc001auw.1:exon2:c.G253A:p.D85N . . . 0.38235295 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . -0.9277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.3 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.77 . ENST00000376152 1.V 0.0313 . 0.020000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 0.012000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 0.012 . . . . rs78478513 rs78478513 1 1538 10 1/0 0,239,255 +. (chr1:13424255 G/A) 1 13424255 G A Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424255 G/A) 1 13424255 G A Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424255 G A - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution missense exon GRCh37 13424255 13424255 Chr1(GRCh37):g.13424255G>A 253 253 NM_001300891.1:c.253G>A p.Asp85Asn p.Asp85Asn 1 -41 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.21897 0 COSM5480716 Large intestine 0.000450 2220 transition G A G>A 0.028 -0.037 D Asp GAT 0.461 N Asn AAT 0.464 85 2 1 2 I.38 I.33 13 11.VI 54 56 23 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G253A:p.D85N PRAMEF9:uc001auw.1:exon2:c.G253A:p.D85N . . . 0.38235295 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . -0.9277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.3 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.77 . ENST00000376152 1.V 0.0313 . 0.020000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 0.012000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 0.012 . . . . rs78478513 rs78478513 1 1538 10 1/0 0,239,255 +. 1 13424255 G A - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424255 13424255 Chr1(GRCh37):g.13424255G>A 253 253 NM_001010890.2:c.253G>A p.Asp85Asn p.Asp85Asn 1 -41 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.43788 0 COSM5480716 Large intestine 0.000450 2220 transition G A G>A 0.028 -0.037 D Asp GAT 0.461 N Asn AAT 0.464 85 12 9 Pig 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 268.84 0.00 Tolerated 0.45 II.62 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.G253A:p.D85N PRAMEF9:uc001auw.1:exon2:c.G253A:p.D85N . . . 0.38235295 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . -0.9277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.3 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.77 . ENST00000376152 1.V 0.0313 . 0.020000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 0.012000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 0.012 . . . . rs78478513 rs78478513 1 1538 10 1/0 0,239,255 +rs879986840 1 13424263 T G - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution synonymous exon GRCh37 13424263 13424263 Chr1(GRCh37):g.13424263T>G 261 261 NM_001098376.2:c.261T>G p.Leu87= p.Leu87Leu 2 -33 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 8.21394 0 rs879986840 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.008 -0.198 L Leu CTT 0.129 L Leu CTG 0.404 87 189 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T261G:p.L87L PRAMEF9:uc001auw.1:exon2:c.T261G:p.L87L . . . 0.1328125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.3540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.35 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,219,255 +rs879986840 1 13424263 T G - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution synonymous exon GRCh37 13424263 13424263 Chr1(GRCh37):g.13424263T>G 261 261 ENST00000619661.2:c.261T>G p.Leu87= p.Leu87Leu 2 -33 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.99627 0 rs879986840 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.008 -0.198 L Leu CTT 0.129 L Leu CTG 0.404 87 189 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T261G:p.L87L PRAMEF9:uc001auw.1:exon2:c.T261G:p.L87L . . . 0.1328125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.3540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.35 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,219,255 +rs879986840 1 13424263 T G - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution synonymous exon GRCh37 13424263 13424263 Chr1(GRCh37):g.13424263T>G 261 261 NM_001306072.1:c.261T>G p.Leu87= p.Leu87Leu 1 -33 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.99627 0 rs879986840 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.008 -0.198 L Leu CTT 0.129 L Leu CTG 0.404 87 189 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T261G:p.L87L PRAMEF9:uc001auw.1:exon2:c.T261G:p.L87L . . . 0.1328125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.3540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.35 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,219,255 +rs879986840 1 13424263 T G - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution synonymous exon GRCh37 13424263 13424263 Chr1(GRCh37):g.13424263T>G 261 261 NM_001300891.1:c.261T>G p.Leu87= p.Leu87Leu 1 -33 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.71737 0 rs879986840 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.008 -0.198 L Leu CTT 0.129 L Leu CTG 0.404 87 189 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.T261G:p.L87L PRAMEF9:uc001auw.1:exon2:c.T261G:p.L87L . . . 0.1328125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.3540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.35 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,219,255 +rs879986840 (chr1:13424263 T/G) 1 13424263 T G Transcript NM_001010890.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF9 +. 1 13424281 A C - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424281 13424281 Chr1(GRCh37):g.13424281A>C 279 279 NM_001098376.2:c.279A>C p.Gln93His p.Gln93His 2 -15 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 8.67416 0 Cryptic Acceptor Strongly Activated 13424296 2.74313 0.429739 76.5854 5.81738 0.761608 76.5854 COSM5427584 Haematopoietic and lymphoid tissue 0.000283 3530 transversion A C A>C 0.000 -0.521 Q Gln CAA 0.256 H His CAC 0.587 93 14 9 Little brown bat 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Tolerated 0.08 II.54 good 6.877E-1 0.1547 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.A279C:p.Q93H PRAMEF9:uc001auw.1:exon2:c.A279C:p.Q93H . . . 0.45360824 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 97.0 . . . . . . . . . . -1.4265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.34 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . 4.1745 . ENST00000376152 1.VII -1.71 . 0.070000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.552 -0.552000 . . 0.070000 . . 1.0E-255 . . . . . . . . . -0.552 . . . . rs77493267 rs77493267 1 1538 10 1/0 0,255,255 +. (chr1:13424281 A/C) 1 13424281 A C Transcript ENST00000619661.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF25 +. (chr1:13424281 A/C) 1 13424281 A C Transcript NM_001306072.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF26 +. 1 13424281 A C - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution missense exon GRCh37 13424281 13424281 Chr1(GRCh37):g.13424281A>C 279 279 NM_001300891.1:c.279A>C p.Gln93His p.Gln93His 1 -15 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 8.17759 0 Cryptic Acceptor Strongly Activated 13424296 3.37178 0.490759 78.3953 6.44603 0.783527 78.3953 COSM5427584 Haematopoietic and lymphoid tissue 0.000283 3530 transversion A C A>C 0.000 -0.521 Q Gln CAA 0.256 H His CAC 0.587 93 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.A279C:p.Q93H PRAMEF9:uc001auw.1:exon2:c.A279C:p.Q93H . . . 0.45360824 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 97.0 . . . . . . . . . . -1.4265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.34 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . 4.1745 . ENST00000376152 1.VII -1.71 . 0.070000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.552 -0.552000 . . 0.070000 . . 1.0E-255 . . . . . . . . . -0.552 . . . . rs77493267 rs77493267 1 1538 10 1/0 0,255,255 +. 1 13424281 A C - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution missense exon GRCh37 13424281 13424281 Chr1(GRCh37):g.13424281A>C 279 279 NM_001010890.2:c.279A>C p.Gln93His p.Gln93His 1 -15 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 8.39649 0 Cryptic Acceptor Strongly Activated 13424296 3.37178 0.490759 78.3953 6.44603 0.783527 78.3953 COSM5427584 Haematopoietic and lymphoid tissue 0.000283 3530 transversion A C A>C 0.000 -0.521 Q Gln CAA 0.256 H His CAC 0.587 93 12 5 Pig 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 243.26 0.00 Tolerated 0.17 II.82 255 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.A279C:p.Q93H PRAMEF9:uc001auw.1:exon2:c.A279C:p.Q93H . . . 0.45360824 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 97.0 . . . . . . . . . . -1.4265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.34 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . 4.1745 . ENST00000376152 1.VII -1.71 . 0.070000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.552 -0.552000 . . 0.070000 . . 1.0E-255 . . . . . . . . . -0.552 . . . . rs77493267 rs77493267 1 1538 10 1/0 0,255,255 +rs2994117 1 13424288 C T - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13424288 13424288 Chr1(GRCh37):g.13424288C>T 286 286 NM_001098376.2:c.286C>T p.Arg96Cys p.Arg96Cys 2 -8 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.49847 0 Cryptic Acceptor Strongly Activated 13424296 2.74313 0.429739 76.5854 3.37178 0.490759 78.3953 rs2994117 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes COSM5427160 Haematopoietic and lymphoid tissue 0.000567 3530 transition C T C>T 0.000 -0.521 R Arg CGT 0.082 C Cys TGT 0.448 96 14 6 Little brown bat -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.18 II.54 good 3.216E-1 0.5225 250 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C286T:p.R96C PRAMEF9:uc001auw.1:exon2:c.C286T:p.R96C . . . 0.3063063 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 111.0 . . . . . . . . . . -0.8468 -1.153 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.077 @ . . . 0.23 0.2 182 ENSG00000204501 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.596 0.041 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.096 . . . HET 0.07 rs2994117 . . . . . . . . . . . . 4.1339 . ENST00000376152 1.VII -1.71 . 0.140000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.529 -0.529000 . . 0.140000 . . 1.0E-250 0.000 0.063 . 0.043 . . 0.139 . 0.092 -0.529 . . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,242,255 +rs2994117 1 13424288 C T - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution missense exon GRCh37 13424288 13424288 Chr1(GRCh37):g.13424288C>T 286 286 ENST00000619661.2:c.286C>T p.Arg96Cys p.Arg96Cys 2 -8 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 VIII.08 0 rs2994117 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes COSM5427160 Haematopoietic and lymphoid tissue 0.000567 3530 transition C T C>T 0.000 -0.521 R Arg CGT 0.082 C Cys TGT 0.448 96 12 8 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 242.52 56.64 Deleterious 0.01 II.80 250 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C286T:p.R96C PRAMEF9:uc001auw.1:exon2:c.C286T:p.R96C . . . 0.3063063 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 111.0 . . . . . . . . . . -0.8468 -1.153 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.077 @ . . . 0.23 0.2 182 ENSG00000204501 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.596 0.041 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.096 . . . HET 0.07 rs2994117 . . . . . . . . . . . . 4.1339 . ENST00000376152 1.VII -1.71 . 0.140000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.529 -0.529000 . . 0.140000 . . 1.0E-250 0.000 0.063 . 0.043 . . 0.139 . 0.092 -0.529 . . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,242,255 +rs2994117 1 13424288 C T - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution missense exon GRCh37 13424288 13424288 Chr1(GRCh37):g.13424288C>T 286 286 NM_001306072.1:c.286C>T p.Arg96Cys p.Arg96Cys 1 -8 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 VIII.08 0 rs2994117 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes COSM5427160 Haematopoietic and lymphoid tissue 0.000567 3530 transition C T C>T 0.000 -0.521 R Arg CGT 0.082 C Cys TGT 0.448 96 12 7 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0.04 II.72 250 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon2:c.C286T:p.R96C PRAMEF9:uc001auw.1:exon2:c.C286T:p.R96C . . . 0.3063063 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 111.0 . . . . . . . . . . -0.8468 -1.153 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.077 @ . . . 0.23 0.2 182 ENSG00000204501 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.596 0.041 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.096 . . . HET 0.07 rs2994117 . . . . . . . . . . . . 4.1339 . ENST00000376152 1.VII -1.71 . 0.140000 Q5VWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.529 -0.529000 . . 0.140000 . . 1.0E-250 0.000 0.063 . 0.043 . . 0.139 . 0.092 -0.529 . . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,242,255 +rs2994117 (chr1:13424288 C/T) 1 13424288 C T Transcript NM_001300891.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PRAMEF27 +rs2994117 (chr1:13424288 C/T) 1 13424288 C T Transcript NM_001010890.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PRAMEF9 +. 1 13424305 C G - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 NM_001098376.2:c.293+10C>G p.? p.? 2 2 10 5' 90.6189 10.0684 0.965256 7.99503 90.6189 10.0684 0.965256 7.80743 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13424305 C G - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 ENST00000619661.2:c.293+10C>G p.? p.? 2 2 10 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.58976 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13424305 C G - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 NM_001306072.1:c.293+10C>G p.? p.? 1 1 10 5' 90.6189 10.0684 0.965256 8.77737 90.6189 10.0684 0.965256 8.58976 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13424305 C G - PRAMEF27 51234 PRAME family member 27 NM_001300891.1 1 1437 1437 NP_001287820.1 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 NM_001300891.1:c.293+10C>G p.? p.? 1 1 10 5' 90.6189 10.0684 0.965256 7.49847 90.6189 10.0684 0.965256 7.31086 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13424305 C G - PRAMEF9 27996 PRAME family member 9 NM_001010890.2 1 1437 1437 NP_001010890.2 substitution intron GRCh37 13424305 13424305 Chr1(GRCh37):g.13424305C>G 293+10 293+10 NM_001010890.2:c.293+10C>G p.? p.? 1 1 10 5' 90.6189 10.0684 0.965256 7.71737 90.6189 10.0684 0.965256 7.52976 0 Cryptic Donor Strongly Activated 13424300 1.65666 0.008997 64.0278 6.31827 0.111506 76.7238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.7132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.05 0.08 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,255,255 +. 1 13425077 A C - PRAMEF15 26764 PRAME family member 15 NM_001098376.2 1 1862 1437 NP_001091846.1 Q5VWM5 substitution missense exon GRCh37 13425077 13425077 Chr1(GRCh37):g.13425077A>C 404 404 NM_001098376.2:c.404A>C p.Lys135Thr p.Lys135Thr 3 111 3' 90.7315 8.97203 0.964838 5.59303 90.7315 8.97203 0.964838 5.59303 0 0.000846 0.001497 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001497 1 1 0 0 0 0 0 0 0 1182 668 162 2 200 70 46 0 34 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6389370 Thyroid 0.002677 747 transversion A C A>C 0.000 0.044 K Lys AAA 0.425 T Thr ACA 0.280 135 14 4 Guinea pig -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 353.86 0.00 Tolerated 0.51 II.65 good 3.607E-1 0.5012 210 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon3:c.A404C:p.K135T PRAMEF9:uc001auw.1:exon3:c.A404C:p.K135T . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . -0.7859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.14 0.19 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . III.21 . ENST00000376152 I.19 0.137 . 0.130000 Q5VWM5 . . . . . . . . . 0.0015 0.0009 0 0 0 . 0 0 0 0 0 . . . . . . . . . . 0.043 0.043000 . . 0.130000 . . 1.0E-210 . . . . . . . . . 0.043 . . rs2153358 rs2153358 rs2153358 rs2153358 1 1538 10 1/0 0,217,255 +. 1 13425077 A C - PRAMEF25 49179 PRAME family member 25 ENST00000619661.2 1 1840 1437 ENSP00000478309 A6NGN4 substitution missense exon GRCh37 13425077 13425077 Chr1(GRCh37):g.13425077A>C 404 404 ENST00000619661.2:c.404A>C p.Lys135Thr p.Lys135Thr 3 111 3' 90.7315 8.97203 0.956956 5.72621 90.7315 8.97203 0.956956 5.72621 0 0.000846 0.001497 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001497 1 1 0 0 0 0 0 0 0 1182 668 162 2 200 70 46 0 34 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6389370 Thyroid 0.002677 747 transversion A C A>C 0.000 0.044 K Lys AAA 0.425 T Thr ACA 0.280 135 12 3 Macaque -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 119.02 0.00 Tolerated 0.49 II.63 210 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon3:c.A404C:p.K135T PRAMEF9:uc001auw.1:exon3:c.A404C:p.K135T . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . -0.7859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.14 0.19 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . III.21 . ENST00000376152 I.19 0.137 . 0.130000 Q5VWM5 . . . . . . . . . 0.0015 0.0009 0 0 0 . 0 0 0 0 0 . . . . . . . . . . 0.043 0.043000 . . 0.130000 . . 1.0E-210 . . . . . . . . . 0.043 . . rs2153358 rs2153358 rs2153358 rs2153358 1 1538 10 1/0 0,217,255 +. 1 13425077 A C - PRAMEF26 49178 PRAME family member 26 NM_001306072.1 1 1785 1437 NP_001293001.1 A6NGN4 substitution missense exon GRCh37 13425077 13425077 Chr1(GRCh37):g.13425077A>C 404 404 NM_001306072.1:c.404A>C p.Lys135Thr p.Lys135Thr 2 111 3' 90.7315 8.97203 0.956956 5.72621 90.7315 8.97203 0.956956 5.72621 0 0.000846 0.001497 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001497 1 1 0 0 0 0 0 0 0 1182 668 162 2 200 70 46 0 34 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6389370 Thyroid 0.002677 747 transversion A C A>C 0.000 0.044 K Lys AAA 0.425 T Thr ACA 0.280 135 12 3 Macaque -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 248.64 0.00 Tolerated 0.48 II.55 210 PASS . . . . . . . . . . . ENSG00000204501:ENST00000376152:exon3:c.A404C:p.K135T PRAMEF9:uc001auw.1:exon3:c.A404C:p.K135T . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . -0.7859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.14 0.19 182 ENSG00000204501 PRAMEF9 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . III.21 . ENST00000376152 I.19 0.137 . 0.130000 Q5VWM5 . . . . . . . . . 0.0015 0.0009 0 0 0 . 0 0 0 0 0 . . . . . . . . . . 0.043 0.043000 . . 0.130000 . . 1.0E-210 . . . . . . . . . 0.043 . . rs2153358 rs2153358 rs2153358 rs2153358 1 1538 10 1/0 0,217,255 +. (chr1:13425077 A/C) 1 13425077 A C Transcript NM_001300891.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF27 +. (chr1:13425077 A/C) 1 13425077 A C Transcript NM_001010890.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF9 +. 1 13449198 G A - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution intron GRCh37 13449198 13449198 Chr1(GRCh37):g.13449198G>A 866+362 866+362 NM_001291380.1:c.866+362C>T p.? p.? 3 3 362 5' 90.6189 10.0684 0.991903 2.92861 90.6189 10.0684 0.991903 2.92861 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.844 240 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.6649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.29 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . rs71183795 rs71183795 rs71183795 1 1538 10 1/0 0,255,255 +. 1 13449198 G A - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution intron GRCh37 13449198 13449198 Chr1(GRCh37):g.13449198G>A 866+362 866+362 NM_001024661.2:c.866+362C>T p.? p.? 3 3 362 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.844 240 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.6649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.29 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . rs71183795 rs71183795 rs71183795 1 1538 10 1/0 0,255,255 +rs61778603 (chr1:13449633 T/C) 1 13449633 T C Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +rs61778603 1 13449633 T C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449633 13449633 Chr1(GRCh37):g.13449633T>C 793 793 NM_001024661.2:c.793A>G p.Arg265Gly p.Arg265Gly 3 -74 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.92861 0 Cryptic Acceptor Strongly Activated 13449615 0.618115 0.000318 68.4311 0.860053 0.00041 68.4311 rs61778603 no no 0 T 0.000000 0 transition A G A>G 0.016 0.770 R Arg AGG 0.207 G Gly GGG 0.250 265 12 7 Pig -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 244.41 III.24 Tolerated 0.08 II.53 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A793G:p.R265G PRAMEF13:uc010obi.1:exon3:c.A793G:p.R265G . . . 0.5769231 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 78.0 . . . . . . . . . . -0.7055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.33 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.05 rs61778603 . . . . . . . . . . . . IV.28 . ENST00000376132 I.14 I.14 . 0.020000 Q5VWM6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.751 0.751000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 0.751 . . rs61778603 rs61778603 rs61778603 rs61778603 1 1538 10 1/0 0,255,255 +. (chr1:13449689 A/G) 1 13449689 A G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13449689 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449689 13449689 Chr1(GRCh37):g.13449689A>G 737 737 NM_001024661.2:c.737T>C p.Met246Thr p.Met246Thr 3 -130 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 Cryptic Donor Strongly Activated 13449689 0.013712 72.1736 1.22129 0.068517 71.4776 transition T C T>C 0.000 -1.086 M Met ATG 1.000 T Thr ACG 0.116 246 12 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 257.76 0.00 Tolerated 0.25 II.62 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T737C:p.M246T PRAMEF13:uc010obi.1:exon3:c.T737C:p.M246T . . . 0.56880736 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 109.0 . . . . . . . . . . -1.8321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.41 . . . . . . . . . . . . . IV.08 . ENST00000376132 0.799 -0.473 . 0.400000 Q5VWM6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.068 -1.068000 . . 0.400000 . . 1.0E-255 . . . . . . . . . -1.068 . . . . rs78380763 rs78380763 1 1538 10 1/0 0,255,255 +. (chr1:13449723 G/C) 1 13449723 G C Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13449723 G C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449723 13449723 Chr1(GRCh37):g.13449723G>C 703 703 NM_001024661.2:c.703C>G p.Arg235Gly p.Arg235Gly 3 -164 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 transversion C G C>G 0.000 -0.037 R Arg CGC 0.190 G Gly GGC 0.342 235 12 4 Cat -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 147.42 58.77 Tolerated 0.19 II.53 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.C703G:p.R235G PRAMEF13:uc010obi.1:exon3:c.C703G:p.R235G . . . 0.52678573 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 112.0 . . . . . . . . . . -0.9353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.28 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . 4.1695 . ENST00000376132 I.14 0.0207 . 0.150000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 0.004000 . . 0.150000 . . 1.0E-255 . . . . . . . . . 0.004 . . . . rs75542004 rs75542004 1 1538 10 1/0 0,255,255 +. (chr1:13449728 T/G) 1 13449728 T G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13449728 T G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449728 13449728 Chr1(GRCh37):g.13449728T>G 698 698 NM_001024661.2:c.698A>C p.Asn233Thr p.Asn233Thr 3 -169 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 transversion A C A>C 0.000 -0.037 N Asn AAT 0.464 T Thr ACT 0.243 233 12 9 Pig 0 0 0 I.33 0.71 11.VI 8.VI 56 61 65 C0 146.96 0.00 Tolerated 0.14 II.53 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A698C:p.N233T PRAMEF13:uc010obi.1:exon3:c.A698C:p.N233T . . . 0.49107143 . . @ 55 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 112.0 . . . . . . . . . . -0.8746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.33 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . III.92 . ENST00000376132 I.14 -0.306 . 0.010000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.098 -0.098000 . . 0.010000 . . 1.0E-255 . . . . . . . . . -0.098 . . . . rs75370450 rs75370450 1 1538 10 1/0 0,255,255 +. (chr1:13449788 C/T) 1 13449788 C T Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13449788 C T - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13449788 13449788 Chr1(GRCh37):g.13449788C>T 638 638 NM_001024661.2:c.638G>A p.Arg213His p.Arg213His 3 -229 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 transition G A G>A 0.000 -0.117 R Arg CGC 0.190 H His CAC 0.587 213 12 6 Zebrafish 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 264.55 0.00 Tolerated 0.3 II.53 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.G638A:p.R213H PRAMEF13:uc010obi.1:exon3:c.G638A:p.R213H . . . 0.42222223 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 90.0 . . . . . . . . . . -1.2697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.3 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.56 . . . . . . . . . . . . . III.85 . ENST00000376132 1.II -0.454 . 0.670000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.116 -0.116000 . . 0.670000 . . 1.0E-255 . . . . . . . . . -0.116 . . . . rs76564987 rs76564987 1 1538 10 1/0 0,255,255 +rs61778604 1 13449801 G A - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution stop gain exon GRCh37 13449801 13449801 Chr1(GRCh37):g.13449801G>A 625 625 NM_001291380.1:c.625C>T p.Glu209* p.Glu209* 3 -242 5' 90.6189 10.0684 0.991903 2.92861 90.6189 10.0684 0.991903 2.92861 0 rs61778604 no no 0 G 0.000000 0 COSM6377715 Thyroid 0.002677 747 transition C T C>T 0.000 -0.360 E Glu GAG 0.583 * * TAG 0.234 209 128 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.C625T:p.Q209X PRAMEF13:uc010obi.1:exon3:c.C625T:p.Q209X . . . 0.26190478 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 84.0 . . . . . . . . . . -0.2621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.41 0.28 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 rs61778604 . . . . . . . . . . . . VI.94 . ENST00000376132 1.II 0.147 . 0.010000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.399 -0.399000 . . 0.010000 . . 1.0E-128 . . . . . . . . . -0.399 . . rs61778604 rs61778604 rs61778604 rs61778604 1 1538 10 1/0 0,255,255 +rs61778604 1 13449801 G A - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution stop gain exon GRCh37 13449801 13449801 Chr1(GRCh37):g.13449801G>A 625 625 NM_001024661.2:c.625C>T p.Gln209* p.Gln209* 3 -242 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 rs61778604 no no 0 G 0.000000 0 COSM6377715 Thyroid 0.002677 747 transition C T C>T 0.000 -0.360 Q Gln CAG 0.744 * * TAG 0.234 209 128 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.C625T:p.Q209X PRAMEF13:uc010obi.1:exon3:c.C625T:p.Q209X . . . 0.26190478 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 84.0 . . . . . . . . . . -0.2621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.41 0.28 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 rs61778604 . . . . . . . . . . . . VI.94 . ENST00000376132 1.II 0.147 . 0.010000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.399 -0.399000 . . 0.010000 . . 1.0E-128 . . . . . . . . . -0.399 . . rs61778604 rs61778604 rs61778604 rs61778604 1 1538 10 1/0 0,255,255 +rs61778605 1 13449832 T C - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution synonymous exon GRCh37 13449832 13449832 Chr1(GRCh37):g.13449832T>C 594 594 NM_001291380.1:c.594A>G p.Ser198= p.Ser198Ser 3 -273 5' 90.6189 10.0684 0.991903 2.92861 90.6189 10.0684 0.991903 2.92861 0 rs61778605 no no 0 T 0.000000 0 COSM5425023 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -0.521 S Ser TCA 0.148 S Ser TCG 0.056 198 221 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A594G:p.S198S PRAMEF13:uc010obi.1:exon3:c.A594G:p.S198S . . . 0.21621622 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.3062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.27 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61778605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs61778605 rs61778605 rs61778605 rs61778605 1 1538 10 1/0 0,250,255 +rs61778605 1 13449832 T C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13449832 13449832 Chr1(GRCh37):g.13449832T>C 594 594 NM_001024661.2:c.594A>G p.Ser198= p.Ser198Ser 3 -273 5' 90.6189 10.0684 0.991903 2.79461 90.6189 10.0684 0.991903 2.79461 0 rs61778605 no no 0 T 0.000000 0 COSM5425023 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -0.521 S Ser TCA 0.148 S Ser TCG 0.056 198 221 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A594G:p.S198S PRAMEF13:uc010obi.1:exon3:c.A594G:p.S198S . . . 0.21621622 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.3062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.27 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61778605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs61778605 rs61778605 rs61778605 rs61778605 1 1538 10 1/0 0,250,255 +rs61778606 (chr1:13449922 A/G) 1 13449922 A G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +rs61778606 1 13449922 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13449922 13449922 Chr1(GRCh37):g.13449922A>G 504 504 NM_001024661.2:c.504T>C p.Phe168= p.Phe168Phe 3 217 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.48944 0 Cryptic Donor Strongly Activated 13449920 1.29728 0.004605 60.3787 3.06578 0.006287 64.5067 rs61778606 no no 0 A 0.000000 0 transition T C T>C 0.000 -2.458 F Phe TTT 0.454 F Phe TTC 0.546 168 202 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T504C:p.F168F PRAMEF13:uc010obi.1:exon3:c.T504C:p.F168F . . . 0.16666667 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.8117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.36 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61778606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs1856642 rs1856642 rs61778606 rs61778606 1 1538 10 1/0 0,255,255 +rs61778607 (chr1:13450014 A/G) 1 13450014 A G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +rs61778607 1 13450014 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13450014 13450014 Chr1(GRCh37):g.13450014A>G 412 412 NM_001024661.2:c.412T>C p.Cys138Arg p.Cys138Arg 3 125 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.48944 0 rs61778607 no no 0 A 0.000000 0 transition T C T>C 0.020 -0.521 C Cys TGT 0.448 R Arg CGT 0.082 138 12 3 Olive baboon -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 260.72 0.00 Tolerated 0.66 II.53 212 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T412C:p.C138R PRAMEF13:uc010obi.1:exon3:c.T412C:p.C138R . . . 0.34615386 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 52.0 . . . . . . . . . . -0.6591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.11 rs61778607 . . . . . . . . . . . . 1.517 . ENST00000376132 1.II -1.83 . 0.420000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.572 -0.572000 . . 0.420000 . . 1.0E-212 . . . . . . . . . -0.572 . . rs61778607 rs61778607 rs61778607 rs61778607 1 1538 10 1/0 0,255,255 +. 1 13450097 T C - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution missense exon GRCh37 13450097 13450097 Chr1(GRCh37):g.13450097T>C 329 329 NM_001291380.1:c.329A>G p.Glu110Gly p.Glu110Gly 3 42 3' 88.8374 X.83 0.97416 8.94779 88.8374 X.83 0.97416 8.96588 0 transition A G A>G 0.000 -0.037 E Glu GAG 0.583 G Gly GGG 0.250 110 12 4 Zebrafish -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 249.84 0.00 Tolerated 0.32 II.53 210 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A329G:p.E110G PRAMEF13:uc010obi.1:exon3:c.A329G:p.E110G . . . 0.1891892 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 37.0 . . . . . . . . . . -0.6154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . III.92 . ENST00000376132 I.14 -0.306 . 0.150000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.098 -0.098000 . . 0.150000 . . 1.0E-210 . . . . . . . . . -0.098 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450097 T C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13450097 13450097 Chr1(GRCh37):g.13450097T>C 329 329 NM_001024661.2:c.329A>G p.Glu110Gly p.Glu110Gly 3 42 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.50753 0 transition A G A>G 0.000 -0.037 E Glu GAG 0.583 G Gly GGG 0.250 110 12 4 Zebrafish -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 249.84 0.00 Tolerated 0.32 II.53 210 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.A329G:p.E110G PRAMEF13:uc010obi.1:exon3:c.A329G:p.E110G . . . 0.1891892 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 37.0 . . . . . . . . . . -0.6154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . III.92 . ENST00000376132 I.14 -0.306 . 0.150000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.098 -0.098000 . . 0.150000 . . 1.0E-210 . . . . . . . . . -0.098 . . . . . . 1 1538 10 1/0 0,255,255 +. (chr1:13450099 A/G) 1 13450099 A G Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +. 1 13450099 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13450099 13450099 Chr1(GRCh37):g.13450099A>G 327 327 NM_001024661.2:c.327T>C p.Asp109= p.Asp109Asp 3 40 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.98025 0 COSM3930317|COSM3930317 Urinary tract|Haematopoietic and lymphoid tissue 0.001488|0.000283 672|3530 transition T C T>C 0.000 -0.521 D Asp GAT 0.461 D Asp GAC 0.539 109 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T327C:p.D109D PRAMEF13:uc010obi.1:exon3:c.T327C:p.D109D . . . 0.4 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.3527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.19 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930317\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063762 rs1063762 rs1063762 rs1063762 1 1538 10 1/0 0,255,255 +. 1 13450105 A G - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution synonymous exon GRCh37 13450105 13450105 Chr1(GRCh37):g.13450105A>G 321 321 NM_001291380.1:c.321T>C p.Asp107= p.Asp107Asp 3 34 3' 88.8374 X.83 0.97416 8.94779 88.8374 X.83 0.97416 9.22191 0 COSM3676748 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.682 D Asp GAT 0.461 D Asp GAC 0.539 107 222 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T321C:p.D107D PRAMEF13:uc010obi.1:exon3:c.T321C:p.D107D . . . 0.22222222 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.3589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450105 A G - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13450105 13450105 Chr1(GRCh37):g.13450105A>G 321 321 NM_001024661.2:c.321T>C p.Asp107= p.Asp107Asp 3 34 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.76356 0 COSM3676748 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.682 D Asp GAT 0.461 D Asp GAC 0.539 107 222 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T321C:p.D107D PRAMEF13:uc010obi.1:exon3:c.T321C:p.D107D . . . 0.22222222 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.3589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450112 A T - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution stop gain exon GRCh37 13450112 13450112 Chr1(GRCh37):g.13450112A>T 314 314 NM_001291380.1:c.314T>A p.Leu105* p.Leu105* 3 27 3' 88.8374 X.83 0.97416 8.94779 88.8374 X.83 0.97416 8.58707 0 COSM5425054 Haematopoietic and lymphoid tissue 0.000283 3530 transversion T A T>A 0.260 0.770 L Leu TTG 0.127 * * TAG 0.234 105 203 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T314A:p.L105X PRAMEF13:uc010obi.1:exon3:c.T314A:p.L105X . . . 0.17142858 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 35.0 . . . . . . . . . . -0.0973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.28 . ENST00000376132 I.14 I.14 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.751 0.751000 . . 1.000000 . . 1.0E-203 . . . . . . . . . 0.751 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450112 A T - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution stop gain exon GRCh37 13450112 13450112 Chr1(GRCh37):g.13450112A>T 314 314 NM_001024661.2:c.314T>A p.Leu105* p.Leu105* 3 27 3' 88.8374 X.83 0.949882 8.48944 88.8374 X.83 0.949882 8.12872 0 COSM5425054 Haematopoietic and lymphoid tissue 0.000283 3530 transversion T A T>A 0.260 0.770 L Leu TTG 0.127 * * TAG 0.234 105 203 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon3:c.T314A:p.L105X PRAMEF13:uc010obi.1:exon3:c.T314A:p.L105X . . . 0.17142858 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 35.0 . . . . . . . . . . -0.0973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.28 . ENST00000376132 I.14 I.14 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.751 0.751000 . . 1.000000 . . 1.0E-203 . . . . . . . . . 0.751 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13450683 G C - PRAMEF13 13262 PRAME family member 13 NM_001291380.1 -1 2164 1425 NP_001278309.1 substitution missense exon GRCh37 13450683 13450683 Chr1(GRCh37):g.13450683G>C 154 154 NM_001291380.1:c.154C>G p.Leu52Val p.Leu52Val 2 -134 5' 90.6189 10.0684 0.977613 5.82633 90.6189 10.0684 0.977613 5.82633 0 transversion C G C>G 0.000 1.013 L Leu CTG 0.404 V Val GTG 0.468 52 12 8 Frog 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 235.27 0.00 Tolerated 0.28 II.53 251 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon2:c.C154G:p.L52V PRAMEF13:uc010obi.1:exon2:c.C154G:p.L52V . . . 0.30985916 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 142.0 . . . . . . . . . . -0.2597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.31 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . V.63 . ENST00000376132 I.27 I.27 . 0.090000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.987 0.987000 . . 0.090000 . . 1.0E-251 . . . . . . . . . 0.987 . . rs4083405 rs4083405 rs4083405 rs4083405 1 1538 10 1/0 0,230,255 +. 1 13450683 G C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution missense exon GRCh37 13450683 13450683 Chr1(GRCh37):g.13450683G>C 154 154 NM_001024661.2:c.154C>G p.Leu52Val p.Leu52Val 2 -134 5' 90.6189 10.0684 0.977613 5.82633 90.6189 10.0684 0.977613 5.82633 0 transversion C G C>G 0.000 1.013 L Leu CTG 0.404 V Val GTG 0.468 52 12 8 Frog 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 235.27 0.00 Tolerated 0.28 II.53 251 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon2:c.C154G:p.L52V PRAMEF13:uc010obi.1:exon2:c.C154G:p.L52V . . . 0.30985916 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 142.0 . . . . . . . . . . -0.2597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.31 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . V.63 . ENST00000376132 I.27 I.27 . 0.090000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.987 0.987000 . . 0.090000 . . 1.0E-251 . . . . . . . . . 0.987 . . rs4083405 rs4083405 rs4083405 rs4083405 1 1538 10 1/0 0,230,255 +rs879393168 (chr1:13450798 T/C) 1 13450798 T C Transcript NM_001291380.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PRAMEF13 +rs879393168 1 13450798 T C - PRAMEF14 13576 PRAME family member 14 NM_001024661.2 -1 2164 1425 NP_001019832.2 Q5VWM6 substitution synonymous exon GRCh37 13450798 13450798 Chr1(GRCh37):g.13450798T>C 39 39 NM_001024661.2:c.39A>G p.Ala13= p.Ala13Ala 2 64 3' 82.1008 7.55647 0.637891 6.66034 82.1008 7.55647 0.637891 6.94905 0 rs879393168 no no 0 T 0.000000 0 transition A G A>G 0.000 -1.005 A Ala GCA 0.226 A Ala GCG 0.107 13 255 PASS . . . . . . . . . . . ENSG00000204495:ENST00000376132:exon2:c.A39G:p.A13A PRAMEF13:uc010obi.1:exon2:c.A39G:p.A13A . . . 0.43055555 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.7505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.33 182 ENSG00000204495 PRAMEF13 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063756 rs1063756 rs1063756 rs1063756 1 1538 10 1/0 0,255,255 +rs769239552 1 13474849 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13474849 13474849 Chr1(GRCh37):g.13474849G>A 1280 1280 NM_001099790.2:c.1280C>T p.Ser427Leu p.Ser427Leu 3 414 3' 87.5737 XI.65 0.985334 10.1805 87.5737 XI.65 0.985334 10.1805 0 rs769239552 yes no Frequency 1 G 0.000000 0 0.000510 0.000821 0.000336 0.000000 0.001630 0.000893 0.000322 0.000146 0.000000 0.001630 61 7 7 0 18 13 14 2 0 119652 8530 20830 4408 11040 14562 43506 13652 3124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 7 7 0 18 13 14 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3801556 Breast 0.000819 2443 transition C T C>T 0.000 -5.444 S Ser TCG 0.056 L Leu TTG 0.127 427 5 2 Mouse -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 209.54 94.04 Tolerated 0.19 III.35 255 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon3:c.C1280T:p.S427L PRAMEF19:uc009vnu.1:exon3:c.C1280T:p.S427L PRAMEF19:NM_001099790:exon3:c.C1280T:p.S427L . . 0.4117647 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 68.0 . . . . . . . . . . -2.5637 . . . . . . . . 2.615e-04 . . . 0.0040 0.0033 0.0030 0.0160 0 0 0 0.0094 0.0049 0.0053 0.0036 0.0175 0 0 0 0.0097 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.23 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.39 rs769239552 . . . . . . ID\x3dCOSM3801556\x3bOCCURENCE\x3d2(breast) . . . . . 0.3219 . ENST00000376126 I.39 -2.77 . 0.320000 Q5VWM3 . . . . . . . . . 0.0006 0.0004 0.0003 0 0.0012 0.0002 0.0003 0 0.0009 0.0026 0.0027 0 0 0.0305 0 0.0017 0 . . . . -5.806 -5.806000 . . 0.320000 . . 1.0E-255 . . . . . . . . . -5.806 . . rs12123403 rs12123403 rs12123403 rs12123403 1 1538 10 1/0 0,255,255 +rs759667351 1 13474980 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution synonymous exon GRCh37 13474980 13474980 Chr1(GRCh37):g.13474980G>A 1149 1149 NM_001099790.2:c.1149C>T p.Cys383= p.Cys383Cys 3 283 3' 87.5737 XI.65 0.985334 10.1805 87.5737 XI.65 0.985334 10.1805 0 rs759667351 yes no Frequency 1 G 0.000000 0 0.000213 0.000131 0.000000 0.000000 0.000267 0.000000 0.000065 0.001523 0.000471 0.001523 58 3 0 0 5 0 8 39 3 272736 22934 34376 10044 18760 30730 123912 25604 6376 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 56 3 0 0 5 0 8 37 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 1.255 C Cys TGC 0.552 C Cys TGT 0.448 383 203 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon3:c.C1149T:p.C383C PRAMEF19:uc009vnu.1:exon3:c.C1149T:p.C383C PRAMEF19:NM_001099790:exon3:c.C1149T:p.C383C . . 0.16806723 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . 0.0375 . . . . . . . . 3.927e-04 . . . 0.0003 0.0003 0 0.0005 0.0016 0.0001 0.0014 0.0004 0.0004 0.0003 0 0.0003 0.0015 0.0002 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.28 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs759667351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.622e-05 0 0 0 0.0009 9.089e-06 0.0002 0 0.0004 0.0013 0 0 0.0033 0.0058 0.0005 0.0021 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs12123444 rs12123444 rs12123444 rs12123444 1 1538 10 1/0 0,225,255 +. 1 13476659 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13476659 13476659 Chr1(GRCh37):g.13476659C>T 478 478 NM_001099790.2:c.478G>A p.Val160Met p.Val160Met 2 191 3' 87.8221 7.55224 0.855017 6.54042 87.8221 7.55224 0.855017 6.54042 0 transition G A G>A 0.000 -1.247 V Val GTG 0.468 M Met ATG 1.000 160 5 1 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 244.02 0.00 Tolerated 0.28 III.35 217 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon2:c.G478A:p.V160M PRAMEF19:uc009vnu.1:exon2:c.G478A:p.V160M PRAMEF19:NM_001099790:exon2:c.G478A:p.V160M . . 0.20930232 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 43.0 . . . . . . . . . . -1.7314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.31 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.17 . . . . . . . . . . . . . III.37 . ENST00000376126 I.66 -3.32 . 0.160000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.277 -1.277000 . . 0.160000 . . 1.0E-217 . . . . . . . . . -1.277 . . rs4391660 rs4391660 rs4391660 rs4391660 1 1538 10 1/0 0,255,255 +. 1 13476661 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13476661 13476661 Chr1(GRCh37):g.13476661G>A 476 476 NM_001099790.2:c.476C>T p.Ser159Phe p.Ser159Phe 2 189 3' 87.8221 7.55224 0.855017 6.54042 87.8221 7.55224 0.855017 6.54042 0 transition C T C>T 0.000 -0.198 S Ser TCC 0.220 F Phe TTC 0.546 159 5 2 Sheep -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C0 242.22 65.24 Tolerated 0.27 III.35 212 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon2:c.C476T:p.S159F PRAMEF19:uc009vnu.1:exon2:c.C476T:p.S159F PRAMEF19:NM_001099790:exon2:c.C476T:p.S159F . . 0.19512194 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 41.0 . . . . . . . . . . -1.2820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.32 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.13 . . . . . . . . . . . . . II.09 . ENST00000376126 I.58 -0.676 . 0.290000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.189 -0.189000 . . 0.290000 . . 1.0E-212 . . . . . . . . . -0.189 . . rs4471273 rs4471273 rs4471273 rs4471273 1 1538 10 1/0 0,255,255 +. 1 13476775 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13476775 13476775 Chr1(GRCh37):g.13476775G>A 362 362 NM_001099790.2:c.362C>T p.Pro121Leu p.Pro121Leu 2 75 3' 87.8221 7.55224 0.855017 6.54042 87.8221 7.55224 0.855017 6.57539 0 transition C T C>T 0.000 -0.198 P Pro CCC 0.328 L Leu CTC 0.197 121 5 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 255.16 22.20 Tolerated 0.59 III.35 221 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon2:c.C362T:p.P121L PRAMEF19:uc009vnu.1:exon2:c.C362T:p.P121L PRAMEF19:NM_001099790:exon2:c.C362T:p.P121L . . 0.2173913 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 69.0 . . . . . . . . . . -1.2087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.32 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . IV.87 . ENST00000376126 I.66 -0.561 . 0.380000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.156 -0.156000 . . 0.380000 . . 1.0E-221 . . . . . . . . . -0.156 . . rs3856321 rs3856321 rs3856321 rs3856321 1 1538 10 1/0 0,252,255 +. 1 13476777 C A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13476777 13476777 Chr1(GRCh37):g.13476777C>A 360 360 NM_001099790.2:c.360G>T p.Arg120Ser p.Arg120Ser 2 73 3' 87.8221 7.55224 0.855017 6.54042 87.8221 7.55224 0.855017 VI.26 0 transversion G T G>T 0.000 0.205 R Arg AGG 0.207 S Ser AGT 0.149 120 5 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 257.76 0.00 Tolerated 0.69 III.35 221 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon2:c.G360T:p.R120S PRAMEF19:uc009vnu.1:exon2:c.G360T:p.R120S PRAMEF19:NM_001099790:exon2:c.G360T:p.R120S . . 0.2173913 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 69.0 . . . . . . . . . . -1.1941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.37 . . . . . . . . . . . . . IV.18 . ENST00000376126 I.66 0.611 . 0.800000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.196 0.196000 . . 0.800000 . . 1.0E-221 . . . . . . . . . 0.196 . . . . . . 1 1538 10 1/0 0,252,255 +. 1 13477402 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13477402 13477402 Chr1(GRCh37):g.13477402C>T 121 121 NM_001099790.2:c.121G>A p.Val41Met p.Val41Met 1 -167 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM6401494 Thyroid 0.002677 747 transition G A G>A 0.000 -1.651 V Val GTG 0.468 M Met ATG 1.000 41 5 1 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 99.57 0.00 Tolerated 0.22 III.33 205 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon1:c.G121A:p.V41M PRAMEF19:uc009vnu.1:exon1:c.G121A:p.V41M PRAMEF19:NM_001099790:exon1:c.G121A:p.V41M . . 0.17460318 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 63.0 . . . . . . . . . . -2.0698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.27 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . IV.71 . ENST00000376126 I.67 -3.34 . 0.780000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.691 -1.691000 . . 0.780000 . . 1.0E-205 . . . . . . . . . -1.691 . . rs4026250 rs4026250 rs4026250 rs4026250 1 1538 10 1/0 0,253,255 +rs4384236 1 13477410 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution missense exon GRCh37 13477410 13477410 Chr1(GRCh37):g.13477410C>G 113 113 NM_001099790.2:c.113G>C p.Arg38Pro p.Arg38Pro 1 -175 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs4384236 no no 0 C 0.000000 0 COSM6369614 Thyroid 0.001339 747 transversion G C G>C 0.000 -3.911 R Arg CGA 0.110 P Pro CCA 0.274 38 5 1 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 138.15 0.00 Tolerated 0.38 III.33 255 PASS . . . . . . . . . . . ENSG00000204491:ENST00000376126:exon1:c.G113C:p.R38P PRAMEF19:uc009vnu.1:exon1:c.G113C:p.R38P PRAMEF19:NM_001099790:exon1:c.G113C:p.R38P . . 0.703125 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . -3.0292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.27 182 ENSG00000204491 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 rs4384236 . . . . . . . . . . . . V.96 . ENST00000376126 I.67 -3.34 . 1.000000 Q5VWM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -3.926 -3.926000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -3.926 . . rs4384236 rs4384236 rs4384236 rs4384236 1 1538 10 1/0 0,255,255 +. 1 13607878 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13607878 13607878 Chr1(GRCh37):g.13607878C>G -130356 -130356 NM_001099790.2:c.-130356G>C p.? p.? 1 -130643 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion G C G>C 0.000 0.205 255 PASS . . . . . . . . . . . . PRAMEF8:uc001auy.2:exon4:c.G1314C:p.K438N . . . 0.9310345 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 29.0 . . . . . . . . . . -0.1641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.5 0.24 182 ENSG00000204485 PRAMEF8 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9328936 rs9328936 rs9328936 rs9328936 1 1538 10 1/0 0,255,255 +. (chr1:13607878 C/G) 1 13607878 C G Transcript NM_001012277.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF7 +. (chr1:13607878 C/G) 1 13607878 C G Transcript NM_001012276.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PRAMEF8 +. 1 13633060 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13633060 13633060 Chr1(GRCh37):g.13633060G>A -155538 -155538 NM_001099790.2:c.-155538C>T p.? p.? 1 -155825 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Acceptor Weakly Activated 13633049 2.08974 6.8e-05 69.357 2.05943 0.000193 73.4589 transition C T C>T 0.020 0.770 255 PASS . . . . . . . . . . . . . UNKNOWN . . 0.37142858 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 35.0 . . . . . . . . . . -0.1431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . ncRNA_exonic intergenic exonic . . . @ . . . . . . ENSG00000224581 . . . dist\x3d21510\x3bdist\x3d8913 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13644854 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13644854 13644854 Chr1(GRCh37):g.13644854C>G -167332 -167332 NM_001099790.2:c.-167332G>C p.? p.? 1 -167619 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Acceptor Strongly Activated 13644856 0.356725 0.080124 77.4141 1.30937 0.204471 77.4141 transversion G C G>C 0.004 1.013 224 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.C55G:p.L19V PRAMEF9:uc001ava.1:exon2:c.C55G:p.L19V . . . 0.22580644 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.429 . @ . . . . . 1 0.616 . . 62.0 . . . . . . . . . . -0.4788 -0.735 -0.479 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.203 @ . . . . . . ENSG00000157358 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.340 . . . . T 0.023 0.001 . . 37 . 0.285 . . 0.047 . . . 0.881 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.589 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.574 . . . . . 0.182 . 0.135 . HET 0.04 . . . . . . . . . . . . . 5.927 . . I.23 I.23 . 0.090000 . . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.999 0.999000 . . 0.090000 . . 1.0E-224 0.001 0.137 . 0.246 0.218 . 0.092 . 0.276 0.999 0.437 . . . . . 1 1538 10 1/0 0,255,255 +. 1 13644871 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13644871 13644871 Chr1(GRCh37):g.13644871T>C -167349 -167349 NM_001099790.2:c.-167349A>G p.? p.? 1 -167636 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Acceptor Strongly Activated 13644856 0.356725 0.080124 77.4141 0.505331 0.118969 77.4141 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.T72C:p.A24A PRAMEF9:uc001ava.1:exon2:c.T72C:p.A24A . . . 0.4090909 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.4974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.2 182 ENSG00000157358 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2933094 rs2933094 rs2933094 rs2933094 1 1538 10 1/0 0,255,255 +. 1 13644947 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13644947 13644947 Chr1(GRCh37):g.13644947C>T -167425 -167425 NM_001099790.2:c.-167425G>A p.? p.? 1 -167712 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.000 -1.893 214 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.C148T:p.R50C PRAMEF9:uc001ava.1:exon2:c.C148T:p.R50C . . . 0.1971831 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.175 . @ . . . . . 1 0.053 . . 142.0 . . . . . . . . . . -1.3640 -1.598 -1.364 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.061 @ . . . . . . ENSG00000157358 PRAMEF9 . . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.114 . . . . T 0.028 0.002 . . 37 . 0.105 . . 0.241 . . . 0.163 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.491 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.289 . . . . . 0.235 . 0.241 . HET 0.01 . . . . . . . . . . . . . VI.95 . . I.23 -2.46 . 0.060000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.855 -1.855000 . . 0.060000 . . 1.0E-214 0.000 0.063 . 0.043 0.002 . 0.088 . 0.053 -1.855 0.437 . . . . . 1 1538 10 1/0 0,220,255 +. 1 13644973 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13644973 13644973 Chr1(GRCh37):g.13644973G>A -167451 -167451 NM_001099790.2:c.-167451C>T p.? p.? 1 -167738 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition C T C>T 0.087 1.013 196 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.G174A:p.V58V PRAMEF9:uc001ava.1:exon2:c.G174A:p.V58V . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.0094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.18 0.21 182 ENSG00000157358 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3930320\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs75716392 rs75716392 1 1538 10 1/0 0,218,255 +. 1 13645034 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645034 13645034 Chr1(GRCh37):g.13645034G>A -167512 -167512 NM_001099790.2:c.-167512C>T p.? p.? 1 -167799 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Donor Weakly Activated 13645036 56.6616 0.867155 0.000277 61.1626 transition C T C>T 0.000 -2.458 240 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.G235A:p.A79T PRAMEF9:uc001ava.1:exon2:c.G235A:p.A79T . . . 0.27380952 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.000 . . 168.0 . . . . . . . . . . -1.8536 -1.937 -1.854 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.061 @ . . . 0.19 0.17 182 ENSG00000157358 PRAMEF9 . . . . 0.000 0.059 . . . . . . . Uncertain_significance . 0 . 0.046 . . . . T 0.003 0.001 . . 37 . 0.020 . . 0.270 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.010 . . . . . 0.098 . 0.083 . HET 1 . . . . . . . . . . . . . IV.19 . . I.23 -2.46 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.592 -2.592000 . . 1.000000 . . 1.0E-240 0.000 0.063 . 0.111 0.002 . 0.104 . 0.044 -2.592 -0.938 . . . rs75875937 rs75875937 1 1538 10 1/0 0,220,255 +. 1 13645052 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645052 13645052 Chr1(GRCh37):g.13645052G>A -167530 -167530 NM_001099790.2:c.-167530C>T p.? p.? 1 -167817 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition C T C>T 0.000 0.044 239 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.G253A:p.D85N PRAMEF9:uc001ava.1:exon2:c.G253A:p.D85N . . . 0.27152318 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.430 . @ . . . . . 1 0.253 . . 151.0 . . . . . . . . . . -0.9506 -1.185 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.059 . . exonic exonic exonic . . 0.147 @ . . . 0.25 0.21 182 ENSG00000157358 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.125 . . . . T 0.025 0.002 . . 37 . 0.126 . . 0.169 . . . 0.790 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.710 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.682 . . . . . 0.133 . 0.051 . HET 0.04 . . . . . . . . . . . . . IV.67 . . I.23 0.239 . 0.020000 . . . . . . 0.033 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.078 0.078000 . . 0.020000 . . 1.0E-239 0.290 0.250 . 0.130 0.003 . 0.209 . 0.040 0.078 -1.353 . . . rs78478513 rs78478513 1 1538 10 1/0 0,224,255 +. 1 13645060 T G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645060 13645060 Chr1(GRCh37):g.13645060T>G -167538 -167538 NM_001099790.2:c.-167538A>C p.? p.? 1 -167825 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.008 -0.037 209 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.T261G:p.L87L PRAMEF9:uc001ava.1:exon2:c.T261G:p.L87L . . . 0.18367347 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . . . . . . . -0.3641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.21 182 ENSG00000157358 PRAMEF9 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs2637935 rs2637935 rs2637935 rs2637935 1 1538 10 1/0 0,217,255 +. 1 13645078 A C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645078 13645078 Chr1(GRCh37):g.13645078A>C -167556 -167556 NM_001099790.2:c.-167556T>G p.? p.? 1 -167843 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 New Donor Site 13645079 2.63157 0.028857 63.3317 transversion T G T>G 0.000 -0.844 255 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.A279C:p.Q93H PRAMEF9:uc001ava.1:exon2:c.A279C:p.Q93H . . . 0.42718446 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.108 . . 103.0 . . . . . . . . . . -1.2857 -1.539 -1.286 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.171 . . exonic exonic exonic . . 0.093 @ . . . 0.21 0.2 182 ENSG00000157358 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.168 . . . . T 0.010 0.001 . . 37 . 0.241 . . 0.215 . . . 0.501 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.734 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.286 . . . . . 0.048 . 0.112 . HET 0 . . . . . . . ID\x3dCOSM1599992\x3bOCCURENCE\x3d3(central_nervous_system) . . . . . II.72 . . I.23 -1.12 . 0.070000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.860 -0.860000 . . 0.070000 . . 1.0E-255 0.001 0.137 . 0.100 0.001 . 0.134 . 0.007 -0.860 -1.022 . . . rs77493267 rs77493267 1 1538 10 1/0 0,255,255 +. 1 13645085 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645085 13645085 Chr1(GRCh37):g.13645085C>T -167563 -167563 NM_001099790.2:c.-167563G>A p.? p.? 1 -167850 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.360 245 PASS . . . . . . . . . . . ENSG00000157358:ENST00000330087:exon2:c.C286T:p.R96C PRAMEF9:uc001ava.1:exon2:c.C286T:p.R96C . . . 0.2890625 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.214 . @ . . . . . 1 0.540 . . 128.0 . . . . . . . . . . -0.8943 -1.150 -0.894 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.050 . . exonic exonic exonic . . 0.091 @ . . . 0.13 0.16 182 ENSG00000157358 PRAMEF9 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.051 . . . . T 0.017 0.001 . . 37 . 0.114 . . 0.358 . . . 0.507 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.408 . . . . . 0.101 . 0.219 . HET 0.01 . . . . . . . . . . . . . IV.27 . . I.23 -1.16 . 0.140000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.359 -0.359000 . . 0.140000 . . 1.0E-245 0.002 0.151 . 0.104 0.004 . 0.103 . 0.038 -0.359 0.437 . rs2994117 rs2994117 rs2994117 rs2994117 1 1538 10 1/0 0,234,255 +. 1 13645102 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13645102 13645102 Chr1(GRCh37):g.13645102C>G -167580 -167580 NM_001099790.2:c.-167580G>C p.? p.? 1 -167867 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.3508772 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . . . . . . . . . -0.3830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.1 0.1 182 ENSG00000157358 PRAMEF9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2994116 rs2994116 rs2994116 rs2994116 1 1538 10 1/0 0,246,255 +rs200459682 1 13669206 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13669206 13669206 Chr1(GRCh37):g.13669206T>C -191684 -191684 NM_001099790.2:c.-191684A>G p.? p.? 1 -191971 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs200459682 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000800 0.000000 0.002000 0.000000 0.002900 0.000203 0.000339 0.000158 0.000000 0.000523 0.000227 0.000210 0.000000 0.000174 0.000523 48 6 5 0 7 6 23 0 1 236840 17698 31634 9410 13374 26384 109518 23084 5738 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 6 5 0 7 6 23 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.756 -1.167 232 PASS . . . . . 0.0008 0.001 0.0029 0.002 . . . . . . . 0.24817519 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.001 . . 137.0 . . . . . . . . . . -1.8694 -1.839 -1.869 c . . . . . 2.328e-04 . . . 0.0007 0.0004 0.0007 0.0032 0 8.869e-05 0 0.0001 0.0009 0.0005 0.0008 0.0024 0.0003 0.0004 0 0.0001 nonsynonymous_SNV . nonsynonymous_SNV 0.089 . . exonic intergenic exonic . . 0.063 0.0010 . . . 0.36 0.29 182 ENSG00000204481 . . . dist\x3d20218\x3bdist\x3d25683 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.061 . . . . T 0.030 0.002 . . 37 . 0.027 . . 0.413 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.010 . . . . . 0.236 . 0.044 . HET 1 rs200459682 . . . . . . . . . . . . VI.87 . . I.69 -2.31 . 1.000000 Q5SWL7 . . . . . 0.004 . . . 0.0003 0.0002 0.0001 0 0.0006 0 0.0002 0.0002 0.0002 0.0005 0.0002 0.0013 0 0 0 0.0002 0 . . 0.133 . -1.275 -1.275000 . . 1.000000 . . 1.0E-232 0.018 0.193 . 0.117 0.004 . 0.059 . 0.039 -1.275 -1.053 . rs3103691 rs3103691 rs3103691 rs200459682 1 1538 10 1/0 0,225,255 +rs563765859 1 13669402 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13669402 13669402 Chr1(GRCh37):g.13669402T>C -191880 -191880 NM_001099790.2:c.-191880A>G p.? p.? 1 -192167 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs563765859 yes no Frequency/1000G 2 T 0.000000 0 0.663538 0.653600 0.694300 0.700400 0.621300 0.647000 0.000073 0.000177 0.000000 0.000000 0.000167 0.000163 0.000050 0.000000 0.000000 0.000177 4 1 0 0 1 1 1 0 0 55034 5644 11088 1312 5998 6128 20098 3094 1672 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.570 255 PASS . . . . . 0.65 0.66 0.65 0.7 0.62 0.69 . . . . . 0.45945945 . . @ 51 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.017 . . 111.0 . . . . . . . . . . -1.6649 -1.780 -1.665 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.008 . . exonic intergenic exonic . . 0.045 0.3365 . . . 0.2 0.25 182 ENSG00000204481 . . . dist\x3d20414\x3bdist\x3d25487 . 0.000 0.035 . . . . . . . Benign . 0 . 0.134 . . . . . . . . . 37 . 0.007 . . 0.459 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.216 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.236 . . . . . 0.012 . 0.026 . HET 0.16 rs563765859 . . . . . . . . . . . . 0.8907 . . I.69 -3.38 . 0.100000 Q5SWL7 . . . . . 0.009 . . . 0.0002 8.09e-05 0 0 0.0002 0 5.492e-05 0 0.0002 0 0 0 0 0 0 0 0 . . 0.133 . -1.705 -1.705000 . . 0.100000 . . 1.0E-255 0.012 0.185 . 0.161 0.002 . 0.035 . 0.003 -1.705 -2.020 . . . . . 1 1538 10 1/0 0,255,255 +rs531415458 1 13669403 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13669403 13669403 Chr1(GRCh37):g.13669403G>A -191881 -191881 NM_001099790.2:c.-191881C>T p.? p.? 1 -192168 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs531415458 yes no Frequency/1000G 2 G 0.000000 0 0.663538 0.653600 0.694300 0.700400 0.621300 0.647000 0.000061 0.000207 0.000000 0.000000 0.000000 0.000164 0.000055 0.000000 0.000000 0.000207 3 1 0 0 0 1 1 0 0 49198 4826 10716 1272 5914 6098 18100 828 1444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes transition C T C>T 0.000 -0.117 255 PASS . . . . . 0.65 0.66 0.65 0.7 0.62 0.69 . . . . . 0.4587156 . . @ 50 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.1464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.3365 . . . . . . ENSG00000204481 . . . dist\x3d20415\x3bdist\x3d25486 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs531415458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.098e-05 0 0 0 0 5.525e-05 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs544826520 1 13669406 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13669406 13669406 Chr1(GRCh37):g.13669406T>C -191884 -191884 NM_001099790.2:c.-191884A>G p.? p.? 1 -192171 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs544826520 yes no Frequency/1000G 2 T 0.000000 0 0.663538 0.653600 0.694300 0.700400 0.621300 0.647000 0.000062 0.000209 0.000000 0.000000 0.000000 0.000166 0.000056 0.000000 0.000000 0.000209 3 1 0 0 0 1 1 0 0 48576 4790 10562 1248 5826 6008 17924 802 1416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transition A G A>G 0.000 -3.507 255 PASS . . . . . 0.65 0.66 0.65 0.7 0.62 0.69 . . . . . 0.45535713 . . @ 51 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . -0.8017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.3365 . . . 0.25 0.29 182 ENSG00000204481 . . . dist\x3d20418\x3bdist\x3d25483 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs544826520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.176e-05 0 0 0 0 5.579e-05 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063786 rs1063786 rs1063786 rs1063786 1 1538 10 1/0 0,255,255 +. 1 13670053 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670053 13670053 Chr1(GRCh37):g.13670053G>A -192531 -192531 NM_001099790.2:c.-192531C>T p.? p.? 1 -192818 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition C T C>T 0.000 -0.360 254 PASS . . . . . . . . . . . . . . . . 0.3243243 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.5002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.32 0.21 182 ENSG00000204481 . . . dist\x3d21065\x3bdist\x3d24836 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . rs71183795 rs71183795 rs71183795 1 1538 10 1/0 0,255,255 +. 1 13670488 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670488 13670488 Chr1(GRCh37):g.13670488T>C -192966 -192966 NM_001099790.2:c.-192966A>G p.? p.? 1 -193253 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Acceptor Strongly Activated 13670470 0.618115 0.000318 68.4311 0.860053 0.00041 68.4311 transition A G A>G 0.004 1.093 255 PASS . . . . . . . . . . . ENSG00000204481:ENST00000334600:exon3:c.A793G:p.R265G . . . . 0.57798165 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.148 . . 109.0 . . . . . . . . . . -0.5871 -0.778 -0.587 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.152 . . exonic intergenic exonic . . 0.232 @ . . . 0.36 0.23 182 ENSG00000204481 . . . dist\x3d21500\x3bdist\x3d24401 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.020 . . . . T 0.004 0.001 . . 37 . 0.197 . . 0.308 . . . . 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.729 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.518 . . . . . 0.159 . 0.207 . HET 0.05 . . . . . . . . . . . . . V.85 . ENST00000334600 I.69 I.69 . 0.010000 . . . . . . 0.023 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.029 1.029000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.177 0.006 . 0.077 . 0.267 1.029 0.486 . rs61778603 rs61778603 rs61778603 rs61778603 1 1538 10 1/0 0,255,255 +. 1 13670544 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670544 13670544 Chr1(GRCh37):g.13670544A>G -193022 -193022 NM_001099790.2:c.-193022T>C p.? p.? 1 -193309 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Donor Strongly Activated 13670544 0.013712 72.1736 1.22129 0.068517 71.4776 transition T C T>C 0.000 -0.763 255 PASS . . . . . . . . . . . ENSG00000204481:ENST00000334600:exon3:c.T737C:p.M246T . . . . 0.58278143 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.012 . . 151.0 . . . . . . . . . . -1.2461 -1.459 -1.246 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.139 . . exonic intergenic exonic . . 0.121 @ . . . 0.34 0.2 182 ENSG00000204481 . . . dist\x3d21556\x3bdist\x3d24345 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.050 . . . . T 0.002 0.001 . . 37 . 0.088 . . 0.355 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.081 . . . . . 0.098 . 0.048 . HET 0.41 . . . . . . . . . . . . . 4.182 . ENST00000334600 0.843 -0.291 . 0.400000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.771 -0.771000 . . 0.400000 . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.064 . 0.031 -0.771 -1.083 . . . rs78380763 rs78380763 1 1538 10 1/0 0,244,250 +. 1 13670578 G C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670578 13670578 Chr1(GRCh37):g.13670578G>C -193056 -193056 NM_001099790.2:c.-193056C>G p.? p.? 1 -193343 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion C G C>G 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.5986394 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.205 . @ . . . . . 1 0.237 . . 147.0 . . . . . . . . . . -0.9104 -1.016 -0.910 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.215 . . exonic intergenic exonic . . 0.170 @ . . . 0.39 0.33 182 ENSG00000204481 . . . dist\x3d21590\x3bdist\x3d24311 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . T 0.029 0.002 . . 37 . 0.235 . . 0.232 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.673 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 1 0.465 . . . . . 0.138 . 0.175 . HET 0 . . . . . . . . . . . . . 5.0611 . . I.69 0.672 . 0.110000 Q5SWL7 . . . . . 0.041 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.238 0.238000 . . 0.110000 . . 1.0E-255 0.000 0.063 . 0.083 0.012 . 0.163 . 0.286 0.238 0.513 . . . rs75542004 rs75542004 1 1538 10 1/0 0,248,254 +. 1 13670583 T G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670583 13670583 Chr1(GRCh37):g.13670583T>G -193061 -193061 NM_001099790.2:c.-193061A>C p.? p.? 1 -193348 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion A C A>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.5586207 . . @ 81 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.228 . @ . . . . . 1 0.212 . . 145.0 . . . . . . . . . . -0.9390 -1.088 -0.939 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.011 . . exonic intergenic exonic . . 0.096 @ . . . 0.36 0.37 182 ENSG00000204481 . . . dist\x3d21595\x3bdist\x3d24306 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.110 . . . . T 0.032 0.002 . . 37 . 0.018 . . 0.438 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.867 . . 0 0 0 0 0 0 . 0.174 . . 0.239 . . . . . . 1 0.524 . . . . . 0.038 . 0.265 . HET 0.03 . . . . . . . . . . . . . 2.282 . . I.69 -1.02 . 0.010000 Q5SWL7 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.263 -0.263000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.074 0.023 . 0.085 . 0.287 -0.263 0.549 . . . rs75370450 rs75370450 1 1538 10 1/0 0,247,255 +. 1 13670643 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670643 13670643 Chr1(GRCh37):g.13670643C>T -193121 -193121 NM_001099790.2:c.-193121G>A p.? p.? 1 -193408 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5294118 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.107 . @ . . . . . 1 0.112 . . 119.0 . . . . . . . . . . -1.4465 -1.517 -1.446 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.010 . . exonic intergenic exonic . . . @ . . . 0.36 0.29 182 ENSG00000204481 . . . dist\x3d21655\x3bdist\x3d24246 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.314 . . . . T 0.295 0.012 . . 37 . 0.005 . . 0.464 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.063 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 1 0.066 . . . . . . . 0.188 . HET 0.56 . . . . . . . . . . . . . . . . . . . 0.600000 Q5SWL7 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.159 0.159000 . . 0.600000 . . 1.0E-255 0.000 0.063 . 0.043 0.007 . 0.026 . 0.068 0.159 0.488 . . . rs76564987 rs76564987 1 1538 10 1/0 0,255,255 +. 1 13670656 G A - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670656 13670656 Chr1(GRCh37):g.13670656G>A -193134 -193134 NM_001099790.2:c.-193134C>T p.? p.? 1 -193421 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM5427090 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -0.198 173 PASS . . . . . . . . . . . . . . . . 0.39252338 . . @ 42 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.758 . @ . . . . . 0 0.339 . . 107.0 . . . . . . . . . . -0.4752 -0.899 -0.475 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . stopgain . . . exonic intergenic exonic . . 0.159 @ . . . 0.24 0.21 182 ENSG00000204481 . . . dist\x3d21668\x3bdist\x3d24233 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.127 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.248 . . . HET 0.02 . . . . . . . . . . . . . 7.1836 . . I.48 0.466 . 0.010000 . . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.204 -0.204000 . . 0.010000 . . 1.0E-173 0.004 0.165 . 0.114 0.002 . 0.136 . 0.079 -0.204 -1.046 . rs61778604 rs61778604 rs61778604 rs61778604 1 1538 10 1/0 0,255,255 +. 1 13670687 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670687 13670687 Chr1(GRCh37):g.13670687T>C -193165 -193165 NM_001099790.2:c.-193165A>G p.? p.? 1 -193452 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM5425002 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.35106382 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . -0.2643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.26 0.27 182 ENSG00000204481 . . . dist\x3d21699\x3bdist\x3d24202 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61778605 rs61778605 rs61778605 rs61778605 1 1538 10 1/0 0,251,255 +. 1 13670777 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670777 13670777 Chr1(GRCh37):g.13670777A>G -193255 -193255 NM_001099790.2:c.-193255T>C p.? p.? 1 -193542 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 Cryptic Donor Strongly Activated 13670775 1.29728 0.004605 60.3787 3.06578 0.006287 64.5067 transition T C T>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.3432836 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.3309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.42 0.34 182 ENSG00000204481 . . . dist\x3d21789\x3bdist\x3d24112 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1856642 rs1856642 rs61778606 rs61778606 1 1538 10 1/0 0,255,255 +. 1 13670869 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670869 13670869 Chr1(GRCh37):g.13670869A>G -193347 -193347 NM_001099790.2:c.-193347T>C p.? p.? 1 -193634 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM4908612 Haematopoietic and lymphoid tissue 0.000850 3530 transition T C T>C 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.44705883 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.118 . @ . . . . . 1 0.065 . . 85.0 . . . . . . . . . . -0.7161 -1.031 -0.716 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.155 . . exonic intergenic exonic . . 0.045 @ . . . 0.37 0.31 182 ENSG00000204481 . . . dist\x3d21881\x3bdist\x3d24020 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.009 . . . . T 0.054 0.003 . . 37 . 0.484 . . 0.472 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.813 . . 0 0 0 0 0 0 . 0.764 . . 0.717 . . . . . . 1 0.090 . . . . . 0.040 . 0.206 . HET 0.11 . . . . . . . . . . . . . II.02 . . I.69 -3.38 . 0.420000 Q5SWL7 . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.934 -0.934000 . . 0.420000 . . 1.0E-255 0.000 0.063 . 0.062 0.014 . 0.028 . 0.048 -0.934 0.517 . rs61778607 rs61778607 rs61778607 rs61778607 1 1538 10 1/0 0,255,255 +. 1 13670952 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670952 13670952 Chr1(GRCh37):g.13670952T>C -193430 -193430 NM_001099790.2:c.-193430A>G p.? p.? 1 -193717 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition A G A>G 0.000 -0.279 217 PASS . . . . . . . . . . . . . . . . 0.20634921 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.251 . . 63.0 . . . . . . . . . . -0.8459 -1.075 -0.846 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.182 . . exonic intergenic exonic . . 0.081 @ . . . . . . ENSG00000204481 . . . dist\x3d21964\x3bdist\x3d23937 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.025 . . . . T 0.044 0.002 . . 37 . 0.464 . . 0.258 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.759 . . 0 0 0 0 0 0 . 0.345 . . 0.352 . . . . . . 1 0.491 . . . . . 0.039 . 0.159 . HET 0.04 . . . . . . . . . . . . . II.11 . . I.69 -1.52 . 0.130000 Q5SWL7 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.360 -0.360000 . . 0.130000 . . 1.0E-217 0.000 0.063 . 0.062 0.001 . 0.089 . 0.287 -0.360 0.549 . . . . . 1 1538 10 1/0 0,255,255 +. 1 13670954 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670954 13670954 Chr1(GRCh37):g.13670954A>G -193432 -193432 NM_001099790.2:c.-193432T>C p.? p.? 1 -193719 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM6240047 Liver 0.000422 2371 transition T C T>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.42592594 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.5638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.13 0.19 182 ENSG00000204481 . . . dist\x3d21966\x3bdist\x3d23935 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063762 rs1063762 rs1063762 rs1063762 1 1538 10 1/0 0,255,255 +. 1 13670960 A G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670960 13670960 Chr1(GRCh37):g.13670960A>G -193438 -193438 NM_001099790.2:c.-193438T>C p.? p.? 1 -193725 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition T C T>C 0.000 -0.844 206 PASS . . . . . . . . . . . . . . . . 0.17741935 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.3301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . . . . ENSG00000204481 . . . dist\x3d21972\x3bdist\x3d23929 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 13670967 A T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13670967 13670967 Chr1(GRCh37):g.13670967A>T -193445 -193445 NM_001099790.2:c.-193445T>A p.? p.? 1 -193732 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 COSM3676765 Haematopoietic and lymphoid tissue 0.000283 3530 transversion T A T>A 0.024 1.093 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.951 . @ . . . . . 0 0.265 . . 56.0 . . . . . . . . . . -0.0602 -0.438 -0.060 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . stopgain . . . exonic intergenic exonic . . 0.232 @ . . . . . . ENSG00000204481 . . . dist\x3d21979\x3bdist\x3d23922 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.337 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.159 . . . LowAF 0 . . . . . . . . . . . . . V.85 . . I.69 I.69 . 1.000000 . . . . . . 0.082 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.029 1.029000 . . 1.000000 . . 1.0E-193 0.105 0.227 . 0.164 0.026 . 0.372 . 0.295 1.029 0.586 . . . . . 1 1538 10 1.I 0,0,0 +. 1 13671538 G C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13671538 13671538 Chr1(GRCh37):g.13671538G>C -194016 -194016 NM_001099790.2:c.-194016C>G p.? p.? 1 -194303 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion C G C>G 0.516 1.255 255 PASS . . . . . . . . . . . . . . . . 0.36645964 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.401 . @ . . . . . 1 0.737 . . 161.0 . . . . . . . . . . -0.1347 -0.392 -0.135 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.164 . . exonic intergenic exonic . . 0.232 @ . . . 0.36 0.31 182 ENSG00000204481 . . . dist\x3d22550\x3bdist\x3d23351 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.355 . . . . T 0.059 0.003 . . 37 . 0.330 . . 0.019 . . . . 0.202 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.563 . . 0 0 0 0 0 0 . 0.764 . . 0.710 . . . . . . 1 0.465 . . . . . 0.232 . 0.331 . HET 0.03 . . . . . . . . . . . . . VI.78 . . I.69 I.69 . 0.070000 Q5SWL7 . . . . . 0.092 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.250 1.250000 . . 0.070000 . . 1.0E-255 0.023 0.197 . 0.043 0.001 . 0.355 . 0.296 1.250 0.826 . rs4083405 rs4083405 rs4083405 rs4083405 1 1538 10 1/0 0,230,255 +. 1 13671653 T C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13671653 13671653 Chr1(GRCh37):g.13671653T>C -194131 -194131 NM_001099790.2:c.-194131A>G p.? p.? 1 -194418 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition A G A>G 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.44871795 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.7059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.42 0.35 182 ENSG00000204481 . . . dist\x3d22665\x3bdist\x3d23236 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063756 rs1063756 rs1063756 rs1063756 1 1538 10 1/0 0,255,255 +rs548583032 1 13695603 G C - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13695603 13695603 Chr1(GRCh37):g.13695603G>C -218081 -218081 NM_001099790.2:c.-218081C>G p.? p.? 1 -218368 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 rs548583032 yes no Frequency/1000G 2 G 0.000000 0 0.990415 0.985600 0.994900 0.991100 0.989100 0.994200 0.001859 0.000000 0.000000 0.000000 0.000000 0.000000 0.002604 0.000000 0.000000 0.002604 1 0 0 0 0 0 1 0 0 538 22 50 2 2 38 384 30 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 108 Exomes COSM4142400 Thyroid 0.004016 747 transversion C G C>G 0.000 -0.117 241 PASS . . . . . 0.99 0.99 0.99 0.99 0.99 0.99 . PRAMEF19:uc009vny.1:exon3:c.C1362G:p.P454P PRAMEF19:NM_001099790:exon3:c.C1362G:p.P454P . . 0.2857143 . . @ 8 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.3200 . . . . . . . . 2.433e-03 . . . . 0 . . . 0 . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0096 . . . . . . ENSG00000204480 PRAMEF19 PRAMEF19 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs548583032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0019 0 0 0 0 0.0026 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 13698238 C T - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13698238 13698238 Chr1(GRCh37):g.13698238C>T -220716 -220716 NM_001099790.2:c.-220716G>A p.? p.? 1 -221003 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transition G A G>A 0.000 -0.521 223 PASS . . . . . . . . . . . ENSG00000204480:ENST00000540591:exon1:c.G121A:p.V41M PRAMEF19:uc009vny.1:exon1:c.G121A:p.V41M . . . 0.22222222 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -1.7485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.5 182 ENSG00000204480 PRAMEF19 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . IV.43 . ENST00000540591 I.18 -1.72 . 0.820000 F5H544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.551 -0.551000 . . 0.820000 . . 1.0E-223 . . . . . . . . . -0.551 . . rs4026250 rs4026250 rs4026250 rs4026250 1 1538 10 1/0 0,251,255 +. 1 13698246 C G - PRAMEF19 24908 PRAME family member 19 NM_001099790.2 -1 2123 1440 NP_001093260.3 Q5VWM3 substitution upstream GRCh37 13698246 13698246 Chr1(GRCh37):g.13698246C>G -220724 -220724 NM_001099790.2:c.-220724G>C p.? p.? 1 -221011 5' 90.6189 10.0684 0.977613 6.42098 90.6189 10.0684 0.977613 6.42098 0 transversion G C G>C 0.000 -0.521 255 PASS . . . . . . . . . . . ENSG00000204480:ENST00000540591:exon1:c.G113C:p.R38P PRAMEF19:uc009vny.1:exon1:c.G113C:p.R38P . . . 0.64102566 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 78.0 . . . . . . . . . . -2.5525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.47 182 ENSG00000204480 PRAMEF19 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.45 . . . . . . . . . . . . . III.54 . ENST00000540591 I.18 0.194 . 1.000000 F5H544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.597 -0.597000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.597 . . rs4384236 rs4384236 rs4384236 rs4384236 1 1538 10 1/0 0,255,255 +rs116813534 1 15905471 G T - AGMAT 18407 Agmatine ureohydrolase (agmatinase) NM_024758.4 -1 3154 1059 NP_079034.3 Q9BSE5 substitution missense exon GRCh37 15905471 15905471 Chr1(GRCh37):g.15905471G>T 603 603 NM_024758.4:c.603C>A p.His201Gln p.His201Gln 4 79 3' 84.1661 VI.35 0.277065 7.93854 84.1661 VI.35 0.277065 7.46292 0 Ureohydrolase Agmatinase-related rs116813534 yes no Frequency/1000G 2 G 0.000000 0 0.000534 0.000000 0.000145 0.002465 0.000000 0.000000 0.000837 0.000427 0.000155 0.002465 148 0 5 25 0 0 106 11 1 277082 24014 34418 10144 18868 30780 126612 25780 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 147 0 5 25 0 0 105 11 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.756 -0.440 H His CAC 0.587 Q Gln CAA 0.256 201 13 10 Zebrafish 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 119.23 0.00 Tolerated 0.37 II.86 255 PASS . . . . . . . . . . . ENSG00000116771:ENST00000375826:exon4:c.C603A:p.H201Q AGMAT:uc001awv.2:exon4:c.C603A:p.H201Q AGMAT:NM_024758:exon4:c.C603A:p.H201Q . . 0.4566929 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.632 . @ . . . . . 1 0.503 . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H201Q|AGMAT|mRNA|CODING|NM_024758|NM_024758.ex.4) . . . . . . . -0.0291 -0.326 -0.029 c . . . . . 5.683e-04 . . . 0 0.0005 8.672e-05 0 0.0005 0.0011 0 0 0 0.0005 8.933e-05 0 0.0006 0.0008 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.882 . . exonic exonic exonic . . 0.026 0.0068 . . . 0.32 0.28 182 ENSG00000116771 AGMAT AGMAT . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.895 0.261 . . 37 . 0.960 . . 0.949 . . . 0.961 0.506 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.853 . 0.961 . HET 0 rs116813534 . . . . . . . . . . . . 16.7644 . ENST00000375826 V.87 -5.21 . 0.000000 Q9BSE5 . . . . . 0.250 . . . 0 0.0005 0.0001 0.0024 0 0.0004 0.0009 0.0002 0 0 0.0005 0 0.0033 0 0.0006 0.0007 0 . . 0.051 . -1.114 -1.114000 . . 0.000000 . . 1.0E-255 0.102 0.226 . 0.312 0.994 . 0.061 . 0.016 -1.114 0.034 . . . rs116813534 rs116813534 1 1538 10 1/0 0,250,255 +rs202062551 1 16385245 G A - CLCNKB 2027 Chloride channel, voltage-sensitive Kb NM_000085.4 1 2626 2064 NP_000076.2 P51801 substitution downstream GRCh37 16385245 16385245 Chr1(GRCh37):g.16385245G>A *1834 *1834 NM_000085.4:c.*1834G>A p.? p.? 20 602023 1882 3' 85.9136 13.0624 0.952337 14.6799 85.9136 13.0624 0.952337 14.6799 0 rs202062551 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.015300 0.000000 0.004000 0.000000 0.006300 0.001134 0.003590 0.032253 0.000000 0.013915 0.006731 0.002195 0.007121 0.032253 1166 23 75 203 0 252 537 44 32 185070 20276 20894 6294 15180 18110 79780 20042 4494 0.000032 0.000000 0.000000 0.000000 0.000000 0.000110 0.000050 0.000000 0.000000 3 0 0 0 0 1 2 0 0 1160 23 75 203 0 250 533 44 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7932 3915 11847 48 5 53 0.00601504 0.00127551 0.00445378 0.00601504 0.00127551 0.00445378 14 transition G A G>A 0.000 -0.037 250 PASS . . . . . . 0.0038 . . 0.004 0.015 . . . . . 0.3046875 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . 0.0013 0.0045 0.006 0.0013 0.0045 0.006 . 0.5024 . . . . . . . . 5.446e-03 . . . 0.0005 0.0087 0.0060 0 0.0015 0.0114 0.0040 0.0180 0.0006 0.0085 0.0053 0 0.0023 0.0101 0.0130 0.0179 . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.13 0.27 182 ENSG00000185519 FAM131C FAM131C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs202062551 . . . . . . . . . . . . . . . . . . . . . . . 0.004454 . . . . . 0.0010 0.0064 0.0036 0.0319 0 0.0022 0.0062 0.0069 0.0139 0.0013 0.0057 0.0028 0.0404 0 0.0021 0.0094 0.0079 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.006 . . rs202062551 rs202062551 1 1538 10 1/0 0,235,255 +rs202062551 1 16385245 G A - FAM131C 26717 Family with sequence similarity 131, member C NM_182623.2 -1 1701 843 NP_872429.2 Q96AQ9 substitution intron GRCh37 16385245 16385245 Chr1(GRCh37):g.16385245G>A 563-33 563-33 NM_182623.2:c.563-33C>T p.? p.? 7 6 -33 3' 89.0735 12.0137 0.94747 XI.95 89.0735 12.0137 0.94747 XI.67 0 rs202062551 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.015300 0.000000 0.004000 0.000000 0.006300 0.001134 0.003590 0.032253 0.000000 0.013915 0.006731 0.002195 0.007121 0.032253 1166 23 75 203 0 252 537 44 32 185070 20276 20894 6294 15180 18110 79780 20042 4494 0.000032 0.000000 0.000000 0.000000 0.000000 0.000110 0.000050 0.000000 0.000000 3 0 0 0 0 1 2 0 0 1160 23 75 203 0 250 533 44 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7932 3915 11847 48 5 53 0.00601504 0.00127551 0.00445378 0.00601504 0.00127551 0.00445378 14 transition C T C>T 0.000 -0.037 250 PASS . . . . . . 0.0038 . . 0.004 0.015 . . . . . 0.3046875 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . 0.0013 0.0045 0.006 0.0013 0.0045 0.006 . 0.5024 . . . . . . . . 5.446e-03 . . . 0.0005 0.0087 0.0060 0 0.0015 0.0114 0.0040 0.0180 0.0006 0.0085 0.0053 0 0.0023 0.0101 0.0130 0.0179 . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.13 0.27 182 ENSG00000185519 FAM131C FAM131C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs202062551 . . . . . . . . . . . . . . . . . . . . . . . 0.004454 . . . . . 0.0010 0.0064 0.0036 0.0319 0 0.0022 0.0062 0.0069 0.0139 0.0013 0.0057 0.0028 0.0404 0 0.0021 0.0094 0.0079 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.006 . . rs202062551 rs202062551 1 1538 10 1/0 0,235,255 +. 1 16891534 A G - NBPF1 26088 Neuroblastoma breakpoint family, member 1 ENST00000430580.2 -1 5932 3420 ENSP00000474456 substitution intron GRCh37 16891534 16891534 Chr1(GRCh37):g.16891534A>G 3065-121 3065-121 ENST00000430580.2:c.3065-121T>C p.? p.? 28 27 610501 -121 3' 83.2605 8.73937 0.14414 3.35112 83.2605 8.73937 0.14414 3.35112 0 0.000899 0.000000 0.001217 0.000000 0.002681 0.000000 0.001173 0.000893 0.002119 0.002681 27 0 1 0 4 0 17 3 2 30038 8654 822 278 1492 0 14488 3360 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 0 1 0 4 0 17 3 2 0 0 0 0 0 0 0 0 0 RF 362 Genomes transition T C T>C 0.004 0.448 183 PASS . . . . . . . . . . . . . . . . 0.12048193 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||NBPF1|mRNA|CODING|NM_017940|) . . . . . . . -0.2704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000219481 NBPF1 NBPF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0009 0.0012 0 0.0027 0.0009 0.0012 0.0021 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs773459768 1 16974667 G A - MST1P2 7383 Macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 NR_027504.1 1 2636 0 substitution exon GRCh37 16974667 16974667 Chr1(GRCh37):g.16974667G>A 1127 1127 NR_027504.1:n.1127G>A 7 389 3' 71.6176 5.0427 0.044749 0 71.6176 5.0427 0.044749 0 0 rs773459768 no no 0 0.000000 0 0.000227 0.000000 0.000000 0.000000 0.000000 0.000000 0.000470 0.000000 0.000000 0.000470 7 0 0 0 0 0 7 0 0 30838 8728 834 302 1622 0 14882 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 113 Genomes transition G A G>A 1.000 3.272 178 PASS . . . . . . . . . . . . . . . . 0.108757064 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 708.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R376H|MST1P2|Non-coding_transcript|NON_CODING|NR_027504|NR_027504.ex.7) . . . . . . . 0.5932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000186301 MST1P2 MST1P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs773459768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,255 +. (chr1:16999389 G/A) 1 16999389 G A Not on a known gene +. (chr1:16999426 G/A) 1 16999426 G A Not on a known gene +. (chr1:16999457 G/A) 1 16999457 G A Not on a known gene +. (chr1:16999463 G/A) 1 16999463 G A Not on a known gene +. (chr1:16999764 A/G) 1 16999764 A G Not on a known gene +rs200396227 1 17060991 C T - FAM231A 49427 Family with sequence similarity 231 member A NM_001282321.1 -1 510 510 NP_001269250.1 P0DMU4 substitution upstream GRCh37 17060991 17060991 Chr1(GRCh37):g.17060991C>T -35 -35 NM_001282321.1:c.-35G>A p.? p.? 1 rs200396227 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.091 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15079366 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 126.0 . . . . . . . . . . -0.3208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.48 0.28 182 ENSG00000268991 . . . dist\x3d7141\x3bdist\x3d5777 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200396227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs3868836 rs3868836 rs3868836 rs200396227 1 1538 10 1/0 0,221,255 +rs200396227 1 17060991 C T - FAM231C 49508 Family with sequence similarity 231, member C NM_001310138.1 -1 655 510 NP_001297067.1 P0DMU5 substitution upstream GRCh37 17060991 17060991 Chr1(GRCh37):g.17060991C>T -35 -35 NM_001310138.1:c.-35G>A p.? p.? 1 rs200396227 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.091 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15079366 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 126.0 . . . . . . . . . . -0.3208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.48 0.28 182 ENSG00000268991 . . . dist\x3d7141\x3bdist\x3d5777 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200396227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs3868836 rs3868836 rs3868836 rs200396227 1 1538 10 1/0 0,221,255 +rs201318871 1 17061028 C T - FAM231A 49427 Family with sequence similarity 231 member A NM_001282321.1 -1 510 510 NP_001269250.1 P0DMU4 substitution upstream GRCh37 17061028 17061028 Chr1(GRCh37):g.17061028C>T -72 -72 NM_001282321.1:c.-72G>A p.? p.? 1 rs201318871 no no 0 0.000000 0 transition G A G>A 0.228 0.125 255 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . . . . . . . . . -0.2715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.5 0.23 182 ENSG00000268991 . . . dist\x3d7178\x3bdist\x3d5740 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201318871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1736723 rs1736723 rs1736723 rs1736723 1 1538 10 1/0 0,246,255 +rs201318871 1 17061028 C T - FAM231C 49508 Family with sequence similarity 231, member C NM_001310138.1 -1 655 510 NP_001297067.1 P0DMU5 substitution upstream GRCh37 17061028 17061028 Chr1(GRCh37):g.17061028C>T -72 -72 NM_001310138.1:c.-72G>A p.? p.? 1 rs201318871 no no 0 0.000000 0 transition G A G>A 0.228 0.125 255 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . . . . . . . . . -0.2715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.5 0.23 182 ENSG00000268991 . . . dist\x3d7178\x3bdist\x3d5740 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201318871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1736723 rs1736723 rs1736723 rs1736723 1 1538 10 1/0 0,246,255 +. 1 17061065 C T - FAM231A 49427 Family with sequence similarity 231 member A NM_001282321.1 -1 510 510 NP_001269250.1 P0DMU4 substitution upstream GRCh37 17061065 17061065 Chr1(GRCh37):g.17061065C>T -109 -109 NM_001282321.1:c.-109G>A p.? p.? 1 transition G A G>A 0.398 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.1141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.5 0.23 182 ENSG00000268991 . . . dist\x3d7215\x3bdist\x3d5703 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs2446540 rs2446540 rs2446540 rs2446540 1 1538 10 1/0 0,241,255 +. 1 17061065 C T - FAM231C 49508 Family with sequence similarity 231, member C NM_001310138.1 -1 655 510 NP_001297067.1 P0DMU5 substitution upstream GRCh37 17061065 17061065 Chr1(GRCh37):g.17061065C>T -109 -109 NM_001310138.1:c.-109G>A p.? p.? 1 transition G A G>A 0.398 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.1141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . 0.5 0.23 182 ENSG00000268991 . . . dist\x3d7215\x3bdist\x3d5703 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs2446540 rs2446540 rs2446540 rs2446540 1 1538 10 1/0 0,241,255 +rs750402461 1 17084581 T C - MST1L 7390 Macrophage stimulating 1-like NM_001271733.1 -1 4668 2070 NP_001258662.1 substitution missense exon GRCh37 17084581 17084581 Chr1(GRCh37):g.17084581T>C 1517 1517 NM_001271733.1:c.1517A>G p.His506Arg p.His506Arg 12 3 3' 0 0 0.706502 0 0 0 0.694737 0 -0.0166525 rs750402461 yes no Frequency 1 0.000000 0 0.001195 0.000089 0.000302 0.001921 0.000380 0.000035 0.001277 0.004912 0.000658 0.004912 311 2 10 17 7 1 151 119 4 260324 22548 33074 8848 18402 28888 118258 24224 6082 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 311 2 10 17 7 1 151 119 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 1.981 H His CAT 0.413 R Arg CGT 0.082 506 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 208 PASS . . . . . . . . . . . . . MST1L:NM_001271733:exon12:c.A1517G:p.H506R . . 0.17794487 . . @ 71 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 399.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H506R|MST1L|mRNA|CODING|NM_001271733|NM_001271733.ex.12) . . . . . . . -0.4933 . . . . . . . . 3.547e-03 . . . 0.0001 0.0028 0.0022 0.0069 0.0112 0.0030 0.0063 0.0003 0 0.0030 0.0021 0.0054 0.0117 0.0029 0.0064 0.0003 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000186715 MST1L MST1L . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 rs750402461 . . . . . . . . . . . . IV.58 . . . . . 0.360000 . . . . . . . . . . 7.237e-05 0.0011 0.0003 0.0019 0.0004 0.0050 0.0012 0.0008 3.462e-05 0.0001 0.0015 0 0.0034 0.0006 0.0044 0.0019 0 . . . . 0.000 0.000000 . . 0.360000 . . 9.999999999999999E-209 . . . . . . . . . 0.000 . . . . . . 1 1538 10 1/0 0,173,255 +rs761687461 1 17086085 G C - MST1L 7390 Macrophage stimulating 1-like NM_001271733.1 -1 4668 2070 NP_001258662.1 substitution missense exon GRCh37 17086085 17086085 Chr1(GRCh37):g.17086085G>C 812 812 NM_001271733.1:c.812C>G p.Ala271Gly p.Ala271Gly 7 97 3' 71.6176 5.0427 0.044749 0 71.6176 5.0427 0.044749 0 0 Cryptic Donor Strongly Activated 17086085 0.001335 51.1922 2.50052 0.064551 64.5033 rs761687461 yes no Frequency 1 0.000000 0 0.000052 0.000000 0.000000 0.000000 0.000000 0.000000 0.000084 0.000201 0.000000 0.000201 7 0 0 0 0 0 5 2 0 135864 9558 20626 5362 11032 16252 59756 9944 3334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 132 Exomes transversion C G C>G 0.992 0.367 A Ala GCG 0.107 G Gly GGG 0.250 271 0 0 0 0 0.74 8.I 9 31 3 60 177 PASS . . . . . . . . . . . . MST1L:uc010ock.3:exon7:c.C812G:p.A271G MST1L:NM_001271733:exon7:c.C812G:p.A271G . . 0.10909091 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gGg|A271G|MST1L|mRNA|CODING|NM_001271733|NM_001271733.ex.7) . . . . . . . -0.0902 . . . . . . . . 1.926e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000186715 MST1L MST1L . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 1 rs761687461 . . . . . . . . . . . . IV.67 . . . . . 1.000000 Q2TV78-2 . . . . . . . . . 0 5.152e-05 0 0 0 0.0002 8.367e-05 0 0 . . . . . . . . . . . . -0.000 -0.000000 . . 1.000000 . . 1.0E-177 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,253,255 +rs199500293 (chr1:17197541 A/T) 1 17197541 A T Not on a known gene +rs377033452 (chr1:17197665 G/T) 1 17197665 G T Not on a known gene +rs373961830 1 17256615 C A - CROCC 21299 Ciliary rootlet coiled-coil, rootletin NM_014675.4 1 6656 6054 NP_055490.4 Q5TZA2 substitution splice site GRCh37 17256615 17256615 Chr1(GRCh37):g.17256615C>A 538-4 538-4 NM_014675.4:c.538-4C>A p.? p.? 5 4 615776 -4 3' 76.974 6.54402 0.901176 6.62701 76.974 7.41563 0.926251 7.31588 0.0536722 rs373961830 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002232 0.000329 0.000632 0.000000 0.000000 0.000606 0.002497 0.009550 0.002777 0.009550 528 7 19 0 0 16 263 207 16 236584 21260 30046 9434 16676 26400 105330 21676 5762 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000277 0.000000 3 0 0 0 0 0 0 3 0 522 7 19 0 0 16 263 201 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4386 12962 10 2 12 0.00116469 0.000455789 0.000924927 0.00116469 0.000455789 0.000924927 13 transversion C A C>A 0.378 0.528 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.5671642 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . INTRON(MODIFIER||||CROCC|mRNA|CODING|NM_014675|) 0.0005 0.0009 0.0012 0.0005 0.0009 0.0012 . I.50 . . . . . . . . 2.006e-03 . . . 0.0008 0.0025 0.0014 0 0.0180 0.0035 0.0031 0.0008 0.0010 0.0038 0.0016 0 0.0210 0.0052 0.0119 0.0007 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.69 0.46 182 ENSG00000058453 CROCC CROCC . . . . . . 142 0.00218542 64976 141 0.00235055 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373961830 . . . . . . . . . . . . . . . . . . . . 0 0 . 0.000925 . . . . III.25 0.0004 0.0021 0.0007 0 0 0.0091 0.0023 0.0023 0.0006 0.0002 0.0034 0 0 0 0.0120 0.0037 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs373961830 . 1 1538 10 1/0 0,255,255 +rs2781606 1 17271891 C T - CROCC 21299 Ciliary rootlet coiled-coil, rootletin NM_014675.4 1 6656 6054 NP_055490.4 Q5TZA2 substitution intron GRCh37 17271891 17271891 Chr1(GRCh37):g.17271891C>T 1992-66 1992-66 NM_014675.4:c.1992-66C>T p.? p.? 15 14 615776 -66 3' 83.1908 9.14861 0.692581 8.20478 83.1908 9.14861 0.692581 8.57537 0 rs2781606 no no 0 T 0.000000 0 0.004151 0.000928 0.004914 0.022556 0.000000 0.000000 0.006956 0.000000 0.007431 0.022556 125 8 4 6 0 0 100 0 7 30112 8624 814 266 1620 0 14376 3470 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 8 4 6 0 0 100 0 7 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition C T C>T 0.000 -1.247 183 PASS . . . . . . . . . . . . . . . . 0.119266056 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . INTRON(MODIFIER||||CROCC|mRNA|CODING|NM_014675|) . . . . . . . -0.4534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . @ . . . 0.24 0.09 182 ENSG00000058453 CROCC CROCC . uc001azu.2:c.-166C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2781606 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0042 0.0049 0.0226 0 0 0.0070 0.0074 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . 0.022 rs2781606 rs2781606 rs2781606 rs2781606 1 1538 10 1/0 0,224,255 +. 1 17316331 A G - ATP13A2 30213 ATPase type 13A2 NM_022089.3 -1 4040 3543 NP_071372.1 Q9NQ11 substitution intron GRCh37 17316331 17316331 Chr1(GRCh37):g.17316331A>G 2529+51 2529+51 NM_022089.3:c.2529+51T>C p.? p.? 22 22 610513 51 5' 84.5939 VIII.53 0.98118 X.73 84.5939 VIII.53 0.98118 X.23 0 transition T C T>C 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 120.0 . . . . . . . . . . 0.1017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000226526 ATP13A2 ATP13A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +rs191271197 1 18958078 C T - PAX7 8621 Paired box 7 NM_002584.2 1 2260 1563 NP_002575.1 substitution 5'UTR GRCh37 18958078 18958078 Chr1(GRCh37):g.18958078C>T -20 -20 NM_002584.2:c.-20C>T p.? p.? 1 167410 -105 5' 94.3644 X.71 0.996594 X.95 94.3644 X.71 0.996594 X.95 0 rs191271197 yes no Frequency/1000G 2 C 0.000000 0 0.004393 0.000000 0.003100 0.000000 0.017900 0.001400 0.007861 0.002030 0.003292 0.001750 0.000055 0.003143 0.011487 0.015692 0.007150 0.015692 2075 46 110 17 1 91 1383 383 44 263974 22660 33416 9714 18272 28952 120398 24408 6154 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000100 0.000410 0.000000 11 0 0 0 0 0 6 5 0 2053 46 110 17 1 91 1371 373 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8482 4389 12871 116 11 127 0.0134915 0.0025 0.00977073 0.0134915 0.0025 0.00977073 22 transition C T C>T 0.898 0.770 255 PASS . 0.01 . . 0.02 . 0.0044 0.0014 . 0.018 0.0031 . . . . . 0.46341464 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . 0.0025 0.0098 0.013 0.0025 0.0098 0.013 . I.11 . . . . . . . . 7.696e-03 . . . 0.0032 0.0088 0.0036 0.0002 0.0275 0.0135 0.0138 0.0040 0.0030 0.0096 0.0034 0.0002 0.0242 0.0134 0.0157 0.0040 . . . . . . UTR5 UTR5 UTR5 . . . 0.0044 . . . 0.75 0.75 182 ENSG00000009709 PAX7 PAX7 . . . . . . 485 0.00746429 64976 464 0.00773514 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191271197 . . . . . . . . . . . . . . . . . . . . . . . 0.009771 . . . . II.67 0.0022 0.0079 0.0033 0.0016 6.005e-05 0.0159 0.0117 0.0064 0.0031 0.0018 0.0077 0.0048 0.0066 0 0.0146 0.0102 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs191271197 rs191271197 1 1538 10 1/0 0,255,255 +rs34710232 1 19447882 G A - UBR4 30313 Ubiquitin protein ligase E3 component n-recognin 4 NM_020765.2 -1 15882 15552 NP_065816.2 Q5T4S7 substitution synonymous exon GRCh37 19447882 19447882 Chr1(GRCh37):g.19447882G>A 9942 9942 NM_020765.2:c.9942C>T p.Gly3314= p.Gly3314Gly 68 609890 47 3' 85.4451 X.96 0.792911 9.72055 85.4451 X.96 0.792911 9.61055 0 Cryptic Donor Strongly Activated 19447884 66.6649 4.51291 0.762643 76.1965 rs34710232 yes no Frequency/1000G 2 G 0.000000 0 0.004593 0.000800 0.003100 0.000000 0.015900 0.004300 0.004009 0.000833 0.002063 0.000888 0.000053 0.003964 0.006348 0.002017 0.005112 0.006348 1109 20 71 9 1 122 801 52 33 276604 24014 34416 10132 18846 30778 126176 25786 6456 0.000022 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 3 0 1 0 0 0 2 0 0 1103 20 69 9 1 122 797 52 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4399 12935 64 7 71 0.00744186 0.00158874 0.00545902 0.00744186 0.00158874 0.00545902 68 transition C T C>T 0.047 -1.732 G Gly GGC 0.342 G Gly GGT 0.162 3314 255 PASS 0.002 0.01 0.0028 . 0.01 0.0008 0.0046 0.0043 . 0.016 0.0031 . . UBR4:NM_020765:exon68:c.C9942T:p.G3314G . . 0.39473686 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 76.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G3314|UBR4|mRNA|CODING|NM_020765|NM_020765.ex.68) 0.0016 0.0055 0.0074 0.0016 0.0055 0.0074 . 0.5519 . . . . . . . . 4.073e-03 . . . 0.0011 0.0045 0.0017 0 0.0018 0.0070 0.0056 0.0042 0.0009 0.0038 0.0016 0 0.0017 0.0055 0.0043 0.0043 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.41 0.17 182 ENSG00000127481 UBR4 UBR4 . . . . . . 316 0.00486333 64976 294 0.00490114 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34710232 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834347 0.005459 . . . . . 0.0008 0.0041 0.0020 0.0009 0 0.0021 0.0064 0.0055 0.0040 0.0009 0.0035 0.0060 0 0.0006 0.0014 0.0057 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs34710232 rs34710232 rs34710232 rs34710232 1 1538 10 1/0 0,255,255 +rs758115542 1 19484273 G A - UBR4 30313 Ubiquitin protein ligase E3 component n-recognin 4 NM_020765.2 -1 15882 15552 NP_065816.2 Q5T4S7 substitution intron GRCh37 19484273 19484273 Chr1(GRCh37):g.19484273G>A 5760+36 5760+36 NM_020765.2:c.5760+36C>T p.? p.? 40 40 609890 36 5' 85.2503 8.22968 0.965605 4.08532 85.2503 8.22968 0.965605 4.1295 0 rs758115542 yes no Frequency 1 G 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000028 3 0 0 0 0 0 3 0 0 241498 15270 33092 9398 17150 30186 109008 22004 5390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 52 Exomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.4939759 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||UBR4|mRNA|CODING|NM_020765|) . . . . . . . 0.2150 . . . . . . . . 1.579e-05 . . . 0 1.132e-05 0 0 0 2.413e-05 0 0 0 9.637e-06 0 0 0 1.865e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000127481 UBR4 UBR4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758115542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.242e-05 0 0 0 0 2.752e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879900407 1 19594091 G A - AKR7L 24056 Aldo-keto reductase family 7 like (gene/pseudogene) NM_001348421.1 -1 2362 996 NP_001335350.1 Q8NHP1 substitution intron GRCh37 19594091 19594091 Chr1(GRCh37):g.19594091G>A 835-136 835-136 NM_001348421.1:c.835-136C>T p.? p.? 7 6 608478 -136 3' 89.2194 XI.61 0.976289 XI.93 89.2194 XI.61 0.976289 XI.93 0 rs879900407 no no 0 0.000000 0 0.000033 0.000117 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000117 1 1 0 0 0 0 0 0 0 30350 8544 832 298 1572 0 14674 3468 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition C T C>T 0.000 -1.247 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.5069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.29 0.14 182 ENSG00000211454 AKR7L AKR7L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.295e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs7512902 rs7512902 rs7512902 rs7512902 1 1538 10 1/0 0,255,255 +rs143662289 1 21071406 T G - HP1BP3 24973 Heterochromatin protein 1, binding protein 3 NM_016287.3 -1 3921 1662 NP_057371.2 Q5SSJ5 substitution missense exon GRCh37 21071406 21071406 Chr1(GRCh37):g.21071406T>G 1546 1546 NM_016287.3:c.1546A>C p.Ile516Leu p.Ile516Leu 13 616072 179 3' 92.7171 9.28149 0.992312 7.75717 92.7171 9.28149 0.992312 7.75717 0 Cryptic Acceptor Strongly Activated 21071408 III.51 0.080609 74.4649 4.20992 0.156563 74.4649 rs143662289 yes no Frequency/1000G 2 T 0.000000 0 0.006190 0.000000 0.021500 0.000000 0.007000 0.004300 0.008402 0.000583 0.004707 0.020095 0.000265 0.021149 0.008264 0.006978 0.010210 0.021149 2329 14 162 204 5 651 1047 180 66 277202 24026 34420 10152 18870 30782 126694 25794 6464 0.000159 0.000000 0.000058 0.000394 0.000000 0.000780 0.000095 0.000078 0.000000 22 0 1 2 0 12 6 1 0 2285 14 160 200 5 627 1035 178 66 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8523 4402 12925 77 4 81 0.00895349 0.000907853 0.00622789 0.00895349 0.000907853 0.00622789 108 transversion A C A>C 1.000 1.255 I Ile ATC 0.481 L Leu CTC 0.197 516 12 9 Chicken 2 2 2 0 0 5.II 4.IX 111 111 5 C0 93.66 IV.86 Tolerated 0.1 III.75 good 7.114E-1 0.03308 255 PASS . 0.0037 0.01 . 0.01 . 0.0062 0.0043 . 0.007 0.021 . . HP1BP3:NM_016287:exon13:c.A1546C:p.I516L . . 0.45945945 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.357 . @ . . . . . 1 0.337 . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|I516L|HP1BP3|mRNA|CODING|NM_016287|NM_016287.ex.13) 0.0009 0.0062 0.009 0.0009 0.0062 0.009 . -0.2206 -0.040 -0.221 c . . . . . 8.824e-03 . . . 0.0006 0.0090 0.0046 0 0.0076 0.0092 0.0140 0.0203 0.0006 0.0088 0.0046 0 0.0080 0.0089 0.0130 0.0204 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.437 . . exonic exonic exonic . . 0.517 0.0062 . . . 0.61 0.22 182 ENSG00000127483 HP1BP3 HP1BP3 . . . 0.999 0.399 . 424 0.00652549 64976 393 0.00655153 59986 Uncertain_significance . 0 . 0.216 . . . . . . . . . 37 . 0.222 . . 0.055 . . . 0.365 0.371 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.088 . . 0 0 0 0 0 0 . 0.139 . . 0.093 . . . . . . 0 0.501 . . . . . 0.323 . 0.327 . HET 0.06 rs143662289 0.011 0.007 . . . . . 0.003663003663003663 0.0 0.0055248618784530384 0.0 0.0079155672823219 VIII.93 0.00107 . V.53 IV.37 . 0.050000 Q5SSJ5 . . . 0.006228 . 0.591 . . IV.37 0.0006 0.0086 0.0046 0.0203 0.0003 0.0069 0.0079 0.0095 0.0211 0.0006 0.0070 0.0072 0.0132 0 0.0074 0.0107 0.0143 . . 0.730 . 0.991 0.991000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 0.916 . 0.452 . 0.807 0.991 0.042 0.011 . . rs143662289 rs143662289 1 1538 10 1/0 0,253,255 +rs149556293 1 21943889 G A - RAP1GAP 9858 RAP1 GTPase activating protein NM_001330383.2 -1 3707 2247 NP_001317312.1 substitution synonymous exon GRCh37 21943889 21943889 Chr1(GRCh37):g.21943889G>A 201 201 NM_001330383.2:c.201C>T p.Pro67= p.Pro67Pro 8 600278 -91 5' 85.2503 8.22968 0.774887 XII.36 85.2503 8.22968 0.774887 XII.36 0 rs149556293 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000153 0.000091 0.000094 0.000000 0.000000 0.000465 0.000154 0.000000 0.000496 0.000465 39 2 3 0 0 13 18 0 3 255358 22098 32072 9614 17642 27962 116526 23396 6048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 2 3 0 0 13 18 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 127 COSM4492235|COSM4492235|COSM4492235 Upper aerodigestive tract|Skin|Biliary tract 0.000804|0.000812|0.002732 1244|1232|366 transition C T C>T 0.024 -3.104 P Pro CCC 0.328 P Pro CCT 0.283 67 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.33734939 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.1046 . . . . . . . . 1.424e-04 . . . 0.0002 0.0003 0.0010 0 0 0.0003 0 0.0003 0.0002 0.0003 0.0010 0 0 0.0003 0 0.0003 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.2 0.29 182 ENSG00000076864 RAP1GAP RAP1GAP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149556293 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0.0001 0.0002 9.605e-05 0 0 0 0.0002 0.0006 0.0005 0 3.232e-05 0 0 0 0 6.674e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs149556293 rs149556293 1 1538 10 1/0 0,255,255 +rs534071808 1 22109283 G C - USP48 18533 Ubiquitin specific peptidase 48 NM_032236.7 -1 4188 3108 NP_115612.4 Q86UV5 substitution intron GRCh37 22109283 22109283 Chr1(GRCh37):g.22109283G>C 134+34 134+34 NM_032236.7:c.134+34C>G p.? p.? 1 1 617445 34 5' 90.6189 10.0684 0.955264 17.066 90.6189 10.0684 0.955264 17.3637 0 rs534071808 yes no Frequency/1000G 2 G 0.000000 0 0.002187 0.000000 0.000106 0.000144 0.000000 0.000054 0.003246 0.007218 0.002417 0.007218 298 0 2 1 0 1 178 107 9 136278 11446 18840 6962 6984 18664 54834 14824 3724 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000270 0.000000 4 0 0 0 0 0 2 2 0 163 0 2 1 0 1 76 79 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . I.95 . . . . . . . . 6.779e-04 . . . 0 0.0009 0 0 0 0.0027 0 0.0002 0 0.0005 0 0 0.05 0.0013 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . ENSG00000090686 USP48 USP48 . . . . . . 93 0.0014313 64976 93 0.00155036 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs534071808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0016 0.0001 0.0002 0 0.0071 0.0020 0.0015 5.358e-05 0 0.0042 0 0 0 0.0075 0.0067 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs146789326 1 22922673 G T - EPHA8 3391 EPH receptor A8 NM_020526.4 1 5005 3018 NP_065387.1 P29322 substitution intron GRCh37 22922673 22922673 Chr1(GRCh37):g.22922673G>T 1765+7 1765+7 NM_020526.4:c.1765+7G>T p.? p.? 9 9 176945 7 5' 86.3702 9.25272 0.990065 13.7706 86.3702 9.25272 0.988741 XII.92 -0.000445762 rs146789326 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.002619 0.000334 0.000525 0.000197 0.000000 0.000130 0.004009 0.006405 0.003265 0.006405 724 8 18 2 0 4 506 165 21 276390 23988 34272 10128 18850 30736 126222 25762 6432 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000155 0.000000 3 0 0 0 0 0 1 2 0 718 8 18 2 0 4 504 161 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4405 12982 23 1 24 0.00267442 0.000226963 0.0018453 0.00267442 0.000226963 0.0018453 51 COSM5019725 Soft tissue 0.003472 576 transversion G T G>T 0.039 -0.117 255 PASS . 0.0023 . . 0.01 . 0.001 . . 0.005 . . . . . . 0.4640523 . . @ 71 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . INTRON(MODIFIER||||EPHA8|mRNA|CODING|NM_020526|) 0.0002 0.0018 0.0027 0.0002 0.0018 0.0027 . 0.4359 . . . . . . . . 2.353e-03 . . . 0.0002 0.0017 0.0004 0 0.0034 0.0031 0 0.0002 0.0002 0.0022 0.0004 0 0.0053 0.0035 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.24 0.36 182 ENSG00000070886 EPHA8 EPHA8 . . . . . . 126 0.00193918 64976 121 0.00201714 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146789326 . . . . . . . . . . . . . . . . . . . . 0.0001 0.08 . 0.001845 . . . . . 0.0003 0.0023 0.0005 0.0002 0 0.0061 0.0035 0.0026 0.0001 0.0003 0.0051 0.0012 0 0 0.0083 0.0078 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs146789326 rs146789326 1 1538 10 1/0 0,240,255 +rs188686927 1 23954329 T A - MDS2 29633 Myelodysplastic syndrome 2 translocation associated NM_001348075.1 1 1029 423 NP_001335004.1 Q8NDY4 substitution 5'UTR GRCh37 23954329 23954329 Chr1(GRCh37):g.23954329T>A -325 -325 NM_001348075.1:c.-325T>A p.? p.? 2 607305 59 3' 91.1985 12.0303 0.991273 14.3524 91.1985 12.0303 0.991273 14.5381 0 Cryptic Donor Weakly Activated 23954324 2.14155 0.043681 71.6395 2.22299 0.058386 71.8807 rs188686927 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.005625 0.001243 0.004066 0.005429 0.000000 0.000393 0.009656 0.001625 0.005605 0.009656 1448 28 139 54 0 12 1154 26 35 257430 22518 34182 9946 18524 30504 119512 16000 6244 0.000109 0.000000 0.000000 0.000402 0.000000 0.000000 0.000201 0.000000 0.000000 14 0 0 2 0 0 12 0 0 1420 28 139 50 0 12 1130 26 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3943 1752 5695 39 0 39 0.00979407 0 0.00680153 0.00979407 0 0.00680153 48 transversion T A T>A 0.000 -0.117 255 PASS . 0.0023 . . 0.01 . 0.0012 0.0014 . 0.005 . . . . . . 0.5148515 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 101.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aAc|I88N|MDS2|Non-coding_transcript|NON_CODING|NR_027042|NR_027042.ex.2) . 0.0068 0.0098 . 0.0068 0.0098 . -0.2999 . . . . . . . . 5.243e-03 . . . 0.0010 0.0054 0.0032 0 0.0014 0.0105 0.0016 0.0005 0.0009 0.0053 0.0033 0 0.0016 0.0091 0 0.0005 . . . . . . UTR5 ncRNA_exonic ncRNA_exonic . . . 0.0012 . . . 0.47 0.41 182 ENSG00000197880 MDS2 MDS2 ENST00000374555:c.-1716T>A . . . . . 439 0.00675634 64976 433 0.00721835 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188686927 . . . . . . . . . . . . . . . . . . . . . . . 0.006802 . . . . . 0.0012 0.0056 0.0041 0.0056 0 0.0019 0.0096 0.0059 0.0004 0.0013 0.0054 0.0024 0 0 0.0006 0.0100 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188686927 rs188686927 1 1538 10 1/0 0,255,255 +rs9424411 1 24294362 A T - SRSF10 16713 Serine/arginine-rich splicing factor 10 NM_054016.3 -1 7792 789 NP_473357.1 O75494 substitution 3'UTR GRCh37 24294362 24294362 Chr1(GRCh37):g.24294362A>T *3270 *3270 NM_054016.3:c.*3270T>A p.? p.? 6 605221 3568 3' 77.7828 6.83744 0.638167 7.06823 77.7828 6.83744 0.638167 7.06823 0 rs9424411 yes no Frequency/1000G 2 A 0.000000 0 0.006589 0.000000 0.002000 0.010900 0.015900 0.005800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18992 7180 620 176 812 0 7908 1722 574 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 26 Genomes transversion T A T>A 0.992 0.044 255 PASS . . . . . . 0.0066 0.0058 0.011 0.016 0.002 . . . . . 0.5106383 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . . . . . . . . . 0.8428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 ncRNA_exonic UTR3 . . . 0.0066 . . . 0.57 0.65 182 ENSG00000188529 AK054635 SRSF10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145308205 0.272 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.27 rs9424411 rs9424411 rs9424411 rs145308205 1 1538 10 1/0 0,255,255 +. 1 24294450 CA C - SRSF10 16713 Serine/arginine-rich splicing factor 10 NM_054016.3 -1 7792 789 NP_473357.1 O75494 deletion 3'UTR GRCh37 24294451 24294451 Chr1(GRCh37):g.24294451del *3181 *3181 NM_054016.3:c.*3181del p.? p.? 6 605221 3479 3' 77.7828 6.83744 0.638167 7.06823 77.7828 6.83744 0.638167 7.06823 0 rs878874649 no no 0 A 0.000000 0 T 255 Pass . . . . . . . . . . . . . . . . 0.6136364 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic UTR3 . . . . . . . . . . ENSG00000188529 AK054635 SRSF10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150302572 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs34887415 rs34887415 rs150302572 rs150302572 1 1538 10 1.I 0,12,21 +rs141193530 1 24669459 C G - GRHL3 25839 Grainyhead-like transcription factor 3 NM_198174.2 1 2222 1881 NP_937817.3 Q8TE85 substitution missense exon GRCh37 24669459 24669459 Chr1(GRCh37):g.24669459C>G 1363 1363 NM_198174.2:c.1363C>G p.Pro455Ala p.Pro455Ala 11 608317 -57 5' 78.6034 5.50481 0.579246 X.62 78.6034 5.50481 0.579246 X.69 0 rs141193530 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.005000 0.000000 0.005290 0.000833 0.002266 0.003546 0.000000 0.001657 0.009119 0.003334 0.006188 0.009119 1466 20 78 36 0 51 1155 86 40 277132 23996 34418 10152 18864 30782 126662 25794 6464 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000078 0.000000 7 0 0 0 0 0 6 1 0 1452 20 78 36 0 51 1143 84 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8529 4402 12931 71 4 75 0.00825581 0.000907853 0.00576657 0.00825581 0.000907853 0.00576657 129 transversion C G C>G 0.992 5.694 P Pro CCA 0.274 A Ala GCA 0.226 455 12 5 C. elegans -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 106.82 26.83 Tolerated 0.21 II.98 255 PASS . 0.0014 . . 0.004 0.0008 0.0012 . . 0.005 . . . . . . 0.53107345 . . @ 94 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.288 . @ . . . . . 1 0.292 . . 177.0 . . . 0.0009 0.0058 0.0083 0.0009 0.0058 0.0083 . -0.1971 -0.013 -0.197 c . . . . . 5.067e-03 . . . 0.0007 0.0048 0.0016 0 0.0026 0.0085 0.0042 0.0023 0.0006 0.0045 0.0015 0 0.0026 0.0073 0.0072 0.0023 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.095 . . exonic exonic exonic . . 0.737 0.0012 . . . 0.34 0.58 182 ENSG00000158055 GRHL3 GRHL3 . . . 1.000 0.747 . 325 0.00500185 64976 319 0.00531791 59986 Benign . 0 . 0.481 . . . . T 0.152 0.006 . . 37 . 0.064 . . 0.328 . . . 0.424 0.464 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.253 . . 0 0 0 0 0 0 . 0.191 . . 0.216 . . . . . . 0 0.477 . . . . . 0.892 . 0.333 . HET 0.03 rs141193530 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 18.0523 0.00107 . V.27 V.27 . 0.530000 . . . . 0.005767 . 0.878 . . V.27 0.0008 0.0051 0.0022 0.0037 0 0.0035 0.0087 0.0053 0.0017 0.0008 0.0068 0.0048 0 0 0.0020 0.0120 0.0112 . . 0.482 . 2.746 2.746000 . . 0.530000 . . 1.0E-255 1.000 0.715 . 0.167 0.668 . 0.625 . 0.490 2.746 0.871 0.0083 . . rs141193530 rs141193530 1 1538 10 1/0 0,240,255 +rs586670 1 25599204 A C - RHD 10009 Rh blood group, D antigen NM_001282871.1 1 2853 1482 NP_001269800.1 substitution intron GRCh37 25599204 25599204 Chr1(GRCh37):g.25599204A>C 148+18 148+18 NM_001282871.1:c.148+18A>C p.? p.? 1 1 111680 18 5' 90.0021 8.68007 0.981219 6.79544 90.0021 8.68007 0.981219 6.41308 0 rs586670 yes no Frequency/1000G 2 A 0.000000 0 0.000772 0.000536 0.003408 0.000109 0.000267 0.000209 0.000413 0.000225 0.000890 0.003408 188 12 111 1 5 6 43 5 5 243578 22386 32566 9204 18744 28700 104134 22226 5618 0.000411 0.000268 0.001658 0.000000 0.000107 0.000139 0.000250 0.000180 0.000712 50 3 27 0 1 2 13 2 2 88 6 57 1 3 2 17 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 1.416 194 PASS 0.04 0.07 0.07 0.02 0.14 . . . . . . . . . . . 0.14444445 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . 0.1638 . . . . . . . . 3.083e-04 . . . 0.0002 0.0002 0.0007 0.0005 0 8.419e-05 0 0.0002 0.0002 0.0002 0.0007 0.0004 0 4.337e-05 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.55 182 . RHD RHD . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs586670 0.054 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . II.42 0.0005 0.0008 0.0034 0.0001 0.0003 0.0002 0.0003 0.0008 0.0002 0.0007 0.0009 0.0039 0 0 0.0003 0.0012 0.0013 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . 0.14 rs586670 rs586670 rs586670 rs586670 1 1538 10 1/0 0,235,255 +rs586670 1 25599204 A C - RSRP1 25234 Arginine/serine-rich protein 1 NM_001321772.1 -1 2506 873 NP_001308701.1 Q9BUV0 substitution intron GRCh37 25599204 25599204 Chr1(GRCh37):g.25599204A>C -25750 -25750 NM_001321772.1:c.-66-25684T>G p.? p.? 2 1 -25684 3' 89.3379 XII.33 0.980821 XI.43 89.3379 XII.33 0.980821 XI.43 0 rs586670 yes no Frequency/1000G 2 A 0.000000 0 0.000772 0.000536 0.003408 0.000109 0.000267 0.000209 0.000413 0.000225 0.000890 0.003408 188 12 111 1 5 6 43 5 5 243578 22386 32566 9204 18744 28700 104134 22226 5618 0.000411 0.000268 0.001658 0.000000 0.000107 0.000139 0.000250 0.000180 0.000712 50 3 27 0 1 2 13 2 2 88 6 57 1 3 2 17 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 1.416 194 PASS 0.04 0.07 0.07 0.02 0.14 . . . . . . . . . . . 0.14444445 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . 0.1638 . . . . . . . . 3.083e-04 . . . 0.0002 0.0002 0.0007 0.0005 0 8.419e-05 0 0.0002 0.0002 0.0002 0.0007 0.0004 0 4.337e-05 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.55 182 . RHD RHD . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs586670 0.054 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . II.42 0.0005 0.0008 0.0034 0.0001 0.0003 0.0002 0.0003 0.0008 0.0002 0.0007 0.0009 0.0039 0 0 0.0003 0.0012 0.0013 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . 0.14 rs586670 rs586670 rs586670 rs586670 1 1538 10 1/0 0,235,255 +. 1 26156144 A G - MTFR1L 28836 Mitochondrial fission regulator 1-like NM_001099625.1 1 2005 879 NP_001093095.1 Q9H019 substitution missense exon GRCh37 26156144 26156144 Chr1(GRCh37):g.26156144A>G 596 596 NM_001099625.1:c.596A>G p.Glu199Gly p.Glu199Gly 6 145 3' 91.903 11.1071 0.982681 9.19302 91.903 11.1071 0.982681 9.19302 0 Cryptic Acceptor Strongly Activated 26156156 0.214244 2.88775 0.240457 72.5737 Protein of unknown function DUF729 transition A G A>G 1.000 4.967 E Glu GAG 0.583 G Gly GGG 0.250 199 12 12 Chicken -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C65 0.00 97.85 Deleterious 0 IV.32 bad 3.131E-5 7.558E-5 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.893 . . 64.0 . . . . . . . . . . 0.5029 0.613 0.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.997 @ . . . . . . ENSG00000117640 MTFR1L MTFR1L . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.415 . . . . T 0.442 0.021 . . 37 . 0.394 . . 0.125 . . . 0.498 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.778 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 2 0.682 . . . . . 0.856 . 0.821 . HET 0 . . . . . . . . . . . . . 16.8222 . . VI.17 VI.17 . 0.060000 Q9H019-2 . . . . . 0.927 . . VI.17 . . . . . . . . . . . . . . . . . . . 0.730 . 2.371 2.371000 . . . . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.908 . 0.960 2.371 1.062 . . . . . 1 1538 10 1/0 0,255,255 +. 1 26607447 T G - SH3BGRL3 15568 SH3 domain binding glutamic acid-rich protein like 3 NM_031286.3 1 1115 282 NP_112576.1 Q9H299 substitution intron GRCh37 26607447 26607447 Chr1(GRCh37):g.26607447T>G 216+24 216+24 NM_031286.3:c.216+24T>G p.? p.? 2 2 615679 24 5' 72.7921 5.84413 0.335014 7.62716 72.7921 5.84413 0.335014 8.49896 0 transversion T G T>G 0.000 -0.360 184 PASS . . . . . . . . . . . ENSG00000142669:ENST00000319041:exon2:c.T240G:p.G80G . . . . 0.12328767 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 0.9429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000142669 SH3BGRL3 SH3BGRL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 1 26607447 T G - UBXN11 30600 UBX domain protein 11 NM_183008.2 -1 1853 1563 NP_892120.2 Q5T124 substitution downstream GRCh37 26607447 26607447 Chr1(GRCh37):g.26607447T>G *1343 *1343 NM_183008.2:c.*1343A>C p.? p.? 16 609151 1614 3' 80.8108 8.331 0.770949 9.48235 80.8108 8.331 0.770949 9.48235 0 transversion A C A>C 0.000 -0.360 184 PASS . . . . . . . . . . . ENSG00000142669:ENST00000319041:exon2:c.T240G:p.G80G . . . . 0.12328767 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 0.9429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000142669 SH3BGRL3 SH3BGRL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs78173177 1 27217288 G A - GPATCH3 25720 G patch domain containing 3 NM_022078.2 -1 2129 1578 NP_071361.2 Q96I76 substitution 3'UTR GRCh37 27217288 27217288 Chr1(GRCh37):g.27217288G>A *213 *213 NM_022078.2:c.*213C>T p.? p.? 7 617486 430 3' 92.5588 5.13816 0.919906 3.89848 92.5588 5.13816 0.919906 3.89848 0 rs78173177 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.000885 0.000174 0.000205 0.001410 0.000000 0.000098 0.001491 0.001009 0.000471 0.001491 240 4 7 14 0 3 183 26 3 271234 22930 34214 9926 18732 30550 122746 25760 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240 4 7 14 0 3 183 26 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3979 1752 5731 3 0 3 0.00075339 0 0.000523195 0.00075339 0 0.000523195 66 transition C T C>T 0.000 -0.360 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.7344 . . . . . . . . 7.900e-04 . . . 0.0002 0.0007 0 0 0.0021 0.0012 0 0.0001 0.0003 0.0008 0 0 0.0014 0.0013 0 0.0001 . . . . . . UTR3 ncRNA_intronic UTR3 . . . 0.0006 . . . 0.56 0.56 182 ENSG00000198746 BC016143 GPATCH3 . . NM_022078:c.*213C>T . . . 71 0.00109271 64976 68 0.0011336 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78173177 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834524 0.000523 . . . . . 0.0002 0.0009 0.0002 0.0015 0 0.0011 0.0015 0.0004 9.82e-05 0.0001 0.0008 0 0 0 0.0006 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs78173177 rs78173177 1 1538 10 1/0 0,255,255 +rs78173177 1 27217288 G A - GPN2 25513 GPN-loop GTPase 2 NM_018066.3 -1 1510 933 NP_060536.3 Q9H9Y4 substitution upstream GRCh37 27217288 27217288 Chr1(GRCh37):g.27217288G>A -701 -701 NM_018066.3:c.-701C>T p.? p.? 1 -1112 5' 75.5849 7.22056 0.957255 VII.61 75.5849 7.22056 0.957255 VII.61 0 rs78173177 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.000885 0.000174 0.000205 0.001410 0.000000 0.000098 0.001491 0.001009 0.000471 0.001491 240 4 7 14 0 3 183 26 3 271234 22930 34214 9926 18732 30550 122746 25760 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240 4 7 14 0 3 183 26 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3979 1752 5731 3 0 3 0.00075339 0 0.000523195 0.00075339 0 0.000523195 66 transition C T C>T 0.000 -0.360 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.7344 . . . . . . . . 7.900e-04 . . . 0.0002 0.0007 0 0 0.0021 0.0012 0 0.0001 0.0003 0.0008 0 0 0.0014 0.0013 0 0.0001 . . . . . . UTR3 ncRNA_intronic UTR3 . . . 0.0006 . . . 0.56 0.56 182 ENSG00000198746 BC016143 GPATCH3 . . NM_022078:c.*213C>T . . . 71 0.00109271 64976 68 0.0011336 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78173177 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834524 0.000523 . . . . . 0.0002 0.0009 0.0002 0.0015 0 0.0011 0.0015 0.0004 9.82e-05 0.0001 0.0008 0 0 0 0.0006 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs78173177 rs78173177 1 1538 10 1/0 0,255,255 +rs61742782 1 27873845 G A - AHDC1 25230 AT hook, DNA binding motif, containing 1 NM_001029882.3 -1 6358 4812 NP_001025053.1 Q5TGY3 substitution synonymous exon GRCh37 27873845 27873845 Chr1(GRCh37):g.27873845G>A 4782 4782 NM_001029882.3:c.4782C>T p.Pro1594= p.Pro1594Pro 6 615790 -74 5' 82.5488 8.73118 0.991361 9.66837 82.5488 8.73118 0.991361 9.50472 0 rs61742782 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000800 0.004100 0.000000 0.003000 0.004300 0.003692 0.001199 0.002672 0.014085 0.000000 0.004216 0.005128 0.000133 0.005169 0.014085 830 28 67 76 0 87 543 3 26 224838 23362 25074 5396 16974 20634 105886 22482 5030 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000038 0.000000 0.000000 2 0 0 0 0 0 2 0 0 826 28 67 76 0 87 539 3 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8546 4400 12946 54 6 60 0.00627907 0.00136178 0.00461326 0.00627907 0.00136178 0.00461326 91 transition C T C>T 0.984 -0.360 P Pro CCC 0.328 P Pro CCT 0.283 1594 255 PASS . 0.0009 0.0028 . 0.0013 0.0008 0.0022 0.0043 . 0.003 0.0041 . . AHDC1:NM_001029882:exon6:c.C4782T:p.P1594P . . 0.57575756 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 99.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P1594|AHDC1|mRNA|CODING|NM_001029882|NM_001029882.ex.6) 0.0014 0.0046 0.0063 0.0014 0.0046 0.0063 . I.94 . . . . . . . . 3.816e-03 . . . 0.0010 0.0044 0.0027 0 0.0005 0.0065 0.0050 0.0050 0.0011 0.0036 0.0027 0 0.0003 0.0049 0.0052 0.0049 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0022 . . . 0.54 0.42 182 ENSG00000126705 AHDC1 AHDC1 . . . . . . 318 0.00489411 64976 307 0.00511786 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61742782 . . . . . . . . . . . . . . . . . . . . . . . 0.004613 . . . . . 0.0012 0.0038 0.0028 0.0141 0 0.0002 0.0052 0.0054 0.0042 0.0013 0.0027 0 0.0132 0 0 0.0044 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0063 . . rs61742782 rs61742782 1 1538 10 1/0 0,255,255 +rs547985559 1 28203094 C T - THEMIS2 16839 Thymocyte selection associated family member 2 NM_001105556.2 1 2724 1932 NP_001099026.1 Q5TEJ8 substitution splice site GRCh37 28203094 28203094 Chr1(GRCh37):g.28203094C>T 95-5 95-5 NM_001105556.2:c.95-5C>T p.? p.? 2 1 617856 -5 3' 88.2375 9.62282 0.89604 7.46257 91.7831 8.75101 0.852788 6.34205 -0.0328951 rs547985559 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000024 0.000000 0.000030 0.000000 0.000000 0.000065 0.000018 0.000000 0.000185 0.000065 6 0 1 0 0 2 2 0 1 245178 15294 33260 9810 17236 30626 111350 22186 5416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 2 2 0 1 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition C T C>T 0.000 -0.198 227 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.35714287 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . 0.1369 . . . . . . . . 1.579e-05 . . . 0 2.229e-05 0 0 0 0 0.0014 6.25e-05 0 9.482e-06 0 0 0 0 0 6.286e-05 . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000130775 THEMIS2 THEMIS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs547985559 . . . . . . . . . . . . . . . . . . . . 0.0001 0.016 . . . . . . . 0 2.447e-05 3.007e-05 0 0 0 1.796e-05 0.0002 6.53e-05 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 17 1/0 0,237,255 +rs531891233 1 32052247 G C - TINAGL1 19168 Tubulointerstitial nephritis antigen-like 1 NM_022164.2 1 2237 1404 NP_071447.1 Q9GZM7 substitution intron GRCh37 32052247 32052247 Chr1(GRCh37):g.32052247G>C 1218-64 1218-64 NM_022164.2:c.1218-64G>C p.? p.? 11 10 616064 -64 3' 81.6438 12.109 0.960101 16.4626 81.6438 12.109 0.960101 16.3318 0 rs531891233 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.001261 0.000459 0.001193 0.000000 0.000000 0.000000 0.002005 0.000573 0.002041 0.002005 39 4 1 0 0 0 30 2 2 30916 8720 838 302 1622 0 14964 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 4 1 0 0 0 30 2 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G C G>C 0.000 -1.328 255 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.46268657 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.4673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000142910 TINAGL1 TINAGL1 . . . . . . 51 0.000784905 64976 50 0.000833528 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531891233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0013 0.0012 0 0 0.0006 0.0020 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs535888711 1 32098220 C T - PEF1 30009 Penta-EF-hand domain containing 1 NM_012392.3 -1 1979 855 NP_036524.1 Q9UBV8 substitution synonymous exon GRCh37 32098220 32098220 Chr1(GRCh37):g.32098220C>T 501 501 NM_012392.3:c.501G>A p.Lys167= p.Lys167Lys 4 610033 20 3' 82.2917 10.0977 0.933313 13.3549 82.2917 10.0977 0.944099 13.3233 0.00385223 Calcium-binding EF-hand rs535888711 yes no Frequency 1 C 0.000000 0 0.000173 0.000000 0.000000 0.000000 0.000000 0.000000 0.000308 0.000349 0.000000 0.000349 48 0 0 0 0 0 39 9 0 277016 24026 34418 10146 18864 30780 126546 25774 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 0 0 0 0 0 39 9 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.992 0.528 K Lys AAG 0.575 K Lys AAA 0.425 167 255 PASS . . . . . . . . . . . ENSG00000162517:ENST00000373703:exon4:c.G501A:p.K167K . PEF1:NM_012392:exon4:c.G501A:p.K167K . . 0.46666667 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 45.0 . . . . . . . . . . 1.1726 . . . . . . . . 1.184e-04 . . . 0 6.646e-05 0 0 0 0.0001 0 0 0 0.0001 0 0 0.0003 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000162517 . PEF1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535888711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII 0 0.0002 0 0 0 0.0004 0.0003 0 0 0 0.0003 0 0 0 0.0003 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149543696 1 32230666 C T - ADGRB2 944 Adhesion G protein-coupled receptor B2 NM_001294335.1 -1 5440 4755 NP_001281264.1 substitution upstream GRCh37 32230666 32230666 Chr1(GRCh37):g.32230666C>T -1372 -1372 NM_001294335.1:c.-1372G>A p.? p.? 1 602683 -1182 5' 95.6376 X.36 0.995681 13.5223 95.6376 X.36 0.995681 13.5223 0 rs149543696 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.008000 0.000000 0.004361 0.001490 0.002387 0.000000 0.000000 0.000000 0.005801 0.008872 0.002041 0.008872 135 13 2 0 0 0 87 31 2 30956 8724 838 302 1620 0 14998 3494 980 0.007407 0.000000 0.000000 0.000000 0.000000 0.000000 0.011494 0.000000 0.000000 1 0 0 0 0 0 1 0 0 133 13 2 0 0 0 85 31 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.071 0.286 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.008 . . . . . . 0.6166667 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . . . . . . . . . 1.1023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . 0.0016 . . . 0.51 0.53 182 ENSG00000121753 . . . dist\x3d1018\x3bdist\x3d25359 dist\x3d1002\x3bdist\x3d25357 . . . 373 0.00574058 64976 365 0.00608475 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149543696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0044 0.0024 0 0 0.0089 0.0058 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149543696 rs149543696 1 1538 10 1/0 0,255,255 +. 1 32682109 TC T - DCDC2B 32576 Doublecortin domain containing 2B NM_001099434.1 1 1349 1050 NP_001092904.1 A2VCK2 deletion downstream GRCh37 32682111 32682111 Chr1(GRCh37):g.32682111del *613 *613 NM_001099434.1:c.*613del p.? p.? 9 709 3' 81.1906 VIII.48 0.624083 9.1261 81.1906 VIII.48 0.624083 9.1261 0 rs889581150 yes no Frequency 1 C 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000017 1 0 0 0 0 0 1 0 0 151000 7614 23944 8230 10238 22818 57600 16674 3882 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes C 255 Pass . . . . . . . . . . . . . . . . 0.5151515 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . . exonic UTR3 UTR3 . . . . . . . . . . ENSG00000160055 TMEM234 TMEM234 . . NM_019118:c.*344delG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv300 . . . . . . 0 6.623e-06 0 0 0 0 1.736e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,29 +. 1 32682109 TC T - TMEM234 28837 Transmembrane protein 234 NM_019118.4 -1 1128 423 NP_061991.3 deletion 3'UTR GRCh37 32682110 32682110 Chr1(GRCh37):g.32682110del *344 *344 NM_019118.4:c.*344del p.? p.? 5 439 3' 83.9991 6.35383 0.594538 5.82571 83.9991 6.35383 0.594538 5.82571 0 Cryptic Acceptor Strongly Activated 32682102 1.15347 0.050957 75.7176 2.68469 0.205922 80.6285 rs889581150 yes no Frequency 1 C 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000017 1 0 0 0 0 0 1 0 0 151000 7614 23944 8230 10238 22818 57600 16674 3882 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes G 255 Pass . . . . . . . . . . . . . . . . 0.5151515 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . . exonic UTR3 UTR3 . . . . . . . . . . ENSG00000160055 TMEM234 TMEM234 . . NM_019118:c.*344delG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv300 . . . . . . 0 6.623e-06 0 0 0 0 1.736e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,29 +rs756338795 1 32690110 T C - EIF3I 3272 Eukaryotic translation initiation factor 3 subunit I NM_003757.3 1 1919 978 NP_003748.1 Q13347 substitution intron GRCh37 32690110 32690110 Chr1(GRCh37):g.32690110T>C 250+34 250+34 NM_003757.3:c.250+34T>C p.? p.? 5 5 603911 34 5' 94.2214 9.88355 0.996615 9.17552 94.2214 9.88355 0.996615 9.24293 0 rs756338795 yes no Frequency 1 T 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000040 0.000000 0.000000 0.000040 5 0 0 0 0 0 5 0 0 276862 24020 34366 10124 18864 30730 126536 25774 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.008 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.47826087 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.2557 . . . . . . . . 7.893e-06 . . . . . . . . . . . 0 9.436e-06 0 0 0 1.843e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000084623 EIF3I EIF3I . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs756338795 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv300 . . . . . . 0 1.22e-05 0 0 0 0 2.689e-05 0 0 0 6.467e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 32827418 A G - FAM229A 44652 Family with sequence similarity 229, member A NM_001167676.1 -1 699 384 NP_001161148.1 H3BQW9 substitution missense exon GRCh37 32827418 32827418 Chr1(GRCh37):g.32827418A>G 194 194 NM_001167676.1:c.194T>C p.Ile65Thr p.Ile65Thr 2 60 3' 75.8439 7.93093 0.677201 1.219 75.8439 7.93093 0.677201 1.77763 0 rs993568804 yes no Frequency 1 A 0.000000 0 0.000062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000000 0.000000 0.000128 2 0 0 0 0 0 2 0 0 32398 8944 1026 320 1676 264 15636 3520 1012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 1.000 2.142 I Ile ATT 0.356 T Thr ACT 0.243 65 9 9 Opossum -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C65 0.00 89.28 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . FAM229A:uc021oku.1:exon2:c.T194C:p.I65T FAM229A:NM_001167676:exon2:c.T194C:p.I65T . . 0.44578314 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.502 . @ . . . . . 1 0.218 . . 83.0 . . . . . . . . . . I.78 2.368 1.858 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.399 @ . . . . . . ENSG00000225828 FAM229A FAM229A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.919 0.334 . . 37 . . . . . . . . 0.181 0.301 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.823 . . 0 0 0 0 0 0 . . . . . . . . . . . 6 0.682 . . . . . 0.405 . 0.808 . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv211n71 . . 0.330 . . III.57 0 0 0 0 0 0 0 0 0 0 6.491e-05 0 0 0 0 0.0001 0 . . 0.477 . . . . . . . . 1.0E-255 1.000 0.715 . 0.888 0.925 . 0.398 . 0.606 . 1.039 . . . . . 1 1538 10 1/0 0,255,255 +. 1 32827418 A G - TSSK3 15473 Testis-specific serine kinase 3 NM_052841.3 1 1317 807 NP_443073.1 Q96PN8 substitution upstream GRCh37 32827418 32827418 Chr1(GRCh37):g.32827418A>G -885 -885 NM_052841.3:c.-885A>G p.? p.? 1 607660 -1030 5' 89.5524 9.59704 0.992079 6.73336 89.5524 9.59704 0.992079 6.73336 0 New Acceptor Site 32827419 0.500123 0.010548 73.6152 rs993568804 yes no Frequency 1 A 0.000000 0 0.000062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000000 0.000000 0.000128 2 0 0 0 0 0 2 0 0 32398 8944 1026 320 1676 264 15636 3520 1012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 1.000 2.142 255 PASS . . . . . . . . . . . . FAM229A:uc021oku.1:exon2:c.T194C:p.I65T FAM229A:NM_001167676:exon2:c.T194C:p.I65T . . 0.44578314 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.502 . @ . . . . . 1 0.218 . . 83.0 . . . . . . . . . . I.78 2.368 1.858 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.399 @ . . . . . . ENSG00000225828 FAM229A FAM229A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.919 0.334 . . 37 . . . . . . . . 0.181 0.301 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.823 . . 0 0 0 0 0 0 . . . . . . . . . . . 6 0.682 . . . . . 0.405 . 0.808 . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv211n71 . . 0.330 . . III.57 0 0 0 0 0 0 0 0 0 0 6.491e-05 0 0 0 0 0.0001 0 . . 0.477 . . . . . . . . 1.0E-255 1.000 0.715 . 0.888 0.925 . 0.398 . 0.606 . 1.039 . . . . . 1 1538 10 1/0 0,255,255 +rs704886 (chr1:33065947 G/C) 1 33065947 G C Transcript NM_001040441.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) ZBTB8A +rs188104783 1 35654748 T C - SFPQ 10774 Splicing factor proline/glutamine-rich NM_005066.2 -1 3073 2124 NP_005057.1 P23246 substitution intron GRCh37 35654748 35654748 Chr1(GRCh37):g.35654748T>C 1612+39 1612+39 NM_005066.2:c.1612+39A>G p.? p.? 5 5 605199 39 5' 82.2129 8.37568 0.963318 3.29418 82.2129 8.37568 0.963318 3.57455 0 Cryptic Donor Strongly Activated 35654753 3.77335 0.100466 77.6593 8.67858 0.814986 89.8108 rs188104783 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.001000 0.006000 0.000000 0.002518 0.000625 0.000640 0.002962 0.000318 0.000000 0.003116 0.008340 0.002321 0.008340 697 15 22 30 6 0 394 215 15 276782 24010 34366 10130 18860 30752 126424 25778 6462 0.000029 0.000000 0.000000 0.000197 0.000000 0.000000 0.000016 0.000155 0.000000 4 0 0 1 0 0 1 2 0 689 15 22 28 6 0 392 211 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8571 4405 12976 29 1 30 0.00337209 0.000226963 0.00230663 0.00337209 0.000226963 0.00230663 162 transition A G A>G 0.000 -0.924 255 PASS . 0.0018 . . 0.01 . 0.0014 . 0.001 0.006 . . . . . . 0.53968257 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||SFPQ|mRNA|CODING|NM_005066|) 0.0002 0.0023 0.0034 0.0002 0.0023 0.0034 . -0.1328 . . . . . . . . 2.360e-03 . . . 0.0006 0.0020 0.0004 0.0005 0.0087 0.0032 0.0028 0 0.0004 0.0021 0.0004 0.0004 0.0073 0.0030 0.0043 0 . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.23 0.3 182 ENSG00000116560 SFPQ SFPQ . . . . . . 179 0.00275486 64976 172 0.00286734 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188104783 . . . . . . . . . . . . . . . . . . . . . . . 0.002307 . . . . . 0.0007 0.0024 0.0006 0.0031 0.0003 0.0080 0.0031 0.0022 0 0.0006 0.0033 0.0036 0 0.0006 0.0106 0.0035 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188104783 rs188104783 1 1538 10 1/0 0,255,255 +rs758630961 (chr1:36359875 G/C) 1 36359875 G C Sequence discrepancies in AGO1 transcript(s): NM_001317122.1 AGO1 +rs149090218 1 36563536 G A - COL8A2 2216 Collagen, type VIII, alpha 2 NM_005202.3 -1 4534 2112 NP_005193.1 P25067 substitution synonymous exon GRCh37 36563536 36563536 Chr1(GRCh37):g.36563536G>A 1746 1746 NM_005202.3:c.1746C>T p.Thr582= p.Thr582Thr 4 120252 1553 3' 91.4251 XI.78 0.988364 14.741 91.4251 XI.78 0.988364 14.741 0 Complement C1q protein rs149090218 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008000 0.001400 0.003244 0.000969 0.003126 0.002782 0.000000 0.000000 0.004279 0.007638 0.001876 0.007638 882 23 107 28 0 0 533 179 12 271854 23740 34226 10064 18732 30684 124574 23436 6398 0.000037 0.000000 0.000000 0.000199 0.000000 0.000000 0.000032 0.000171 0.000000 5 0 0 1 0 0 2 2 0 872 23 107 26 0 0 529 175 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4403 12960 43 3 46 0.005 0.00068089 0.00353683 0.005 0.00068089 0.00353683 29 transition C T C>T 0.992 0.044 T Thr ACC 0.361 T Thr ACT 0.243 582 255 PASS . 0.0027 0.0028 . 0.01 . 0.0018 0.0014 . 0.008 . . . . . . 0.516129 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 124.0 . . . 0.0007 0.0035 0.005 0.0007 0.0035 0.005 . I.17 . . . . . . . . 3.066e-03 . . . 0.0008 0.0035 0.0028 0 0.0092 0.0057 0.0047 0 0.0006 0.0030 0.0027 0 0.0076 0.0043 0.0048 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.16 0.28 182 ENSG00000171812 COL8A2 COL8A2 . . . . . . 224 0.00344743 64976 215 0.00358417 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs149090218 . . . . . . . . . . . . . . . . . . . . . . . 0.003537 . . . . . 0.0008 0.0032 0.0031 0.0029 0 0.0074 0.0043 0.0020 0 0.0013 0.0035 0.0036 0 0 0.0089 0.0041 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149090218 rs149090218 1 1538 10 1/0 0,255,255 +rs139650826 1 36636774 G A - MAP7D1 25514 MAP7 domain containing 1 NM_018067.4 1 3570 2526 NP_060537.3 Q3KQU3 substitution synonymous exon GRCh37 36636774 36636774 Chr1(GRCh37):g.36636774G>A 249 249 NM_018067.4:c.249G>A p.Gln83= p.Gln83Gln 2 -143 5' 85.1573 6.63725 0.972928 7.26657 85.1573 6.63725 0.972928 7.26657 0 rs139650826 yes no Frequency/1000G 2 G 0.000000 0 0.004593 0.000800 0.001000 0.000000 0.017900 0.004300 0.009689 0.002340 0.006227 0.003859 0.000000 0.000358 0.016268 0.010010 0.007752 0.016268 2674 56 214 39 0 11 2046 258 50 275990 23934 34368 10106 18854 30738 125766 25774 6450 0.000167 0.000000 0.000058 0.000198 0.000000 0.000000 0.000302 0.000155 0.000000 23 0 1 1 0 0 19 2 0 2628 56 212 37 0 11 2008 254 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8475 4394 12869 125 12 137 0.0145349 0.00272356 0.0105336 0.0145349 0.00272356 0.0105336 41 transition G A G>A 0.984 0.690 Q Gln CAG 0.744 Q Gln CAA 0.256 83 255 PASS . 0.01 0.01 . 0.02 0.0008 0.0046 0.0043 . 0.018 0.001 . . . . . 0.5185185 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 81.0 . . . 0.0027 0.011 0.015 0.0027 0.011 0.015 . 0.8364 . . . . . . . . 9.756e-03 . . . 0.0029 0.0090 0.0056 0 0.0110 0.0159 0.0129 0.0002 0.0026 0.0091 0.0055 0 0.0097 0.0149 0.0073 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.54 0.35 182 ENSG00000116871 MAP7D1 MAP7D1 . . . . . . 821 0.0126354 64976 798 0.0133031 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139650826 . . . . . . . . . . . . . . . . . . . . . . . 0.010534 . . . . II.18 0.0024 0.0097 0.0062 0.0040 0 0.0099 0.0165 0.0082 0.0004 0.0022 0.0094 0.0072 0 0 0.0109 0.0148 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs139650826 rs139650826 1 1538 10 1/0 0,255,255 +rs202103117 1 36642367 C T - MAP7D1 25514 MAP7 domain containing 1 NM_018067.4 1 3570 2526 NP_060537.3 Q3KQU3 substitution missense exon GRCh37 36642367 36642367 Chr1(GRCh37):g.36642367C>T 1303 1303 NM_018067.4:c.1303C>T p.Arg435Cys p.Arg435Cys 8 70 3' 88.6529 XII.15 0.989417 13.0506 88.6529 XII.15 0.989417 XII.72 0 rs202103117 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.001000 0.001000 0.000000 0.000000 0.000231 0.000000 0.000000 0.001269 0.001198 0.000247 0.000150 0.000043 0.000000 0.001269 58 0 0 12 21 7 17 1 0 251390 21904 32070 9456 17526 28348 113050 23156 5880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 0 0 12 21 7 17 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 1.000 1.577 R Arg CGC 0.190 C Cys TGC 0.552 435 12 9 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 III.37 255 PASS . 0.0005 . 0.0017 . . 0.0004 . 0.001 . 0.001 . . . . . 0.46268657 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.955 . @ . . . . . 1 0.950 . . 67.0 . . . . . . . . . . 0.6181 0.593 0.618 c . . . . . 2.144e-04 . . . 0 0.0003 0 0.0013 0 0.0003 0 0.0002 0 0.0002 0 0.0017 0.0004 0.0001 0 8.667e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.053 . . exonic exonic exonic . . 0.672 0.0004 . . . 0.39 0.29 182 ENSG00000116871 MAP7D1 MAP7D1 . . . 1.000 0.747 . 11 0.000169293 64976 9 0.000150035 59986 Uncertain_significance . 0 . 0.359 . . . . T 0.479 0.025 . . 37 . 0.215 . . 0.001 . . . 0.644 0.468 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.686 . . 0 0 0 0 0 0 . 0.899 . . 0.651 . . . . . . 0 0.784 . . . . . 0.752 . 0.549 . HET 0 rs202103117 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0017482517482517483 0.0 15.4913 . . 5.IV 5.IV . 0.000000 . . . . . . 0.561 . . 5.IV 0 0.0002 0 0.0013 0.0010 5.084e-05 0.0001 0 0.0002 0 0.0003 0 0 0.0031 0 0.0003 0 . . 0.980 . 2.513 2.513000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.587 0.969 . 0.459 . 0.374 2.513 0.598 0.0017 . . rs202103117 rs202103117 1 1538 10 1/0 0,255,255 +rs78136170 1 36859470 G A - LSM10 17562 LSM10, U7 small nuclear RNA associated NM_032881.2 -1 927 372 NP_116270.1 Q969L4 substitution synonymous exon GRCh37 36859470 36859470 Chr1(GRCh37):g.36859470G>A 261 261 NM_032881.2:c.261C>T p.Asp87= p.Asp87Asp 2 285 3' 77.6945 X.66 0.668463 10.855 77.6945 X.66 0.668463 10.855 0 rs78136170 yes no Frequency/1000G 2 G 0.000000 0 0.009585 0.000000 0.000000 0.014900 0.001000 0.046100 0.007412 0.000624 0.043088 0.000197 0.017170 0.002274 0.000758 0.000465 0.008197 0.043088 2055 15 1483 2 324 70 96 12 53 277252 24040 34418 10152 18870 30782 126732 25792 6466 0.000346 0.000000 0.002557 0.000000 0.000318 0.000065 0.000000 0.000000 0.000000 48 0 44 0 3 1 0 0 0 1959 15 1395 2 318 68 96 12 53 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4402 12999 3 4 7 0.000348837 0.000907853 0.000538213 0.000348837 0.000907853 0.000538213 142 COSM3997504 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.748 -0.763 D Asp GAC 0.539 D Asp GAT 0.461 87 255 PASS . 0.01 0.03 0.02 0.0013 . 0.0096 0.046 0.015 0.001 . ENSG00000181817:ENST00000315732:exon2:c.C261T:p.D87D . LSM10:NM_032881:exon2:c.C261T:p.D87D . . 0.4 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 180.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D87|LSM10|mRNA|CODING|NM_032881|NM_032881.ex.2) 0.0009 0.0005 0.0003 0.0009 0.0005 0.0003 . 0.4386 . . . . . . . . 6.290e-03 . . . 0.0010 0.0075 0.0437 0.0193 0.0003 0.0005 0.0042 0.0019 0.0009 0.0071 0.0441 0.0182 0.0006 0.0013 0.0043 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0096 . . . 0.48 0.33 182 ENSG00000181817 LSM10 LSM10 . . . . . . 78 0.00120044 64976 30 0.000500117 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78136170 0.033 0.022 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv47e1 0.000538 . . . . . 0.0007 0.0080 0.0434 0.0002 0.0167 0.0005 0.0008 0.0091 0.0023 0.0005 0.0025 0.0322 0 0.0222 0.0003 0.0005 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs78136170 rs78136170 1 1538 10 1/0 0,226,252 +rs150126875 1 36926423 C G - MRPS15 14504 Mitochondrial ribosomal protein S15 NM_031280.3 -1 965 774 NP_112570.2 P82914 substitution intron GRCh37 36926423 36926423 Chr1(GRCh37):g.36926423C>G 301-46 301-46 NM_031280.3:c.301-46G>C p.? p.? 5 4 611979 -46 3' 85.4625 X.76 0.724263 X.18 85.4625 X.76 0.724263 X.58 0 rs150126875 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.000000 0.000000 0.018800 0.000000 0.000000 0.001894 0.000000 0.000118 0.000100 0.022065 0.000786 0.000427 0.000717 0.001099 0.022065 516 0 4 1 409 24 53 18 7 272388 23722 33974 10014 18536 30536 124148 25088 6370 0.000044 0.000000 0.000000 0.000000 0.000647 0.000000 0.000000 0.000000 0.000000 6 0 0 0 6 0 0 0 0 504 0 4 1 397 24 53 18 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 65 transversion G C G>C 0.000 -0.037 255 PASS . 0.01 . 0.03 . . 0.0038 . 0.019 . . . . . . . 0.5147059 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||MRPS15|mRNA|CODING|NM_031280|) . 0.0002 0.0003 . 0.0002 0.0003 . 0.2280 . . . . . . . . 1.934e-03 . . . 0 0.0018 0 0.0220 0.0008 0.0004 0 0.0009 0 0.0020 0 0.0224 0.0009 0.0004 0.0015 0.0008 . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.38 0.15 182 ENSG00000116898 MRPS15 MRPS15 . . . . . . 33 0.00050788 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150126875 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0020 0.0001 0.0001 0.0227 0.0008 0.0004 0.0009 0.0008 0 0.0012 0 0 0.0154 0 0.0007 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 . . rs150126875 rs150126875 1 1538 10 1/0 0,255,255 +rs34363849 1 36938060 A T - CSF3R 2439 Colony stimulating factor 3 receptor NM_156039.3 -1 3490 2592 NP_724781.1 substitution intron GRCh37 36938060 36938060 Chr1(GRCh37):g.36938060A>T 843+58 843+58 NM_156039.3:c.843+58T>A p.? p.? 7 7 138971 58 5' 82.1078 8.29716 0.747497 9.99782 82.1078 8.29716 0.747497 9.85947 0 rs34363849 yes no Frequency/1000G 2 A 0.000000 0 0.004193 0.000000 0.000000 0.020800 0.000000 0.000000 0.001360 0.000000 0.000000 0.000000 0.017968 0.000000 0.000736 0.000000 0.002041 0.017968 42 0 0 0 29 0 11 0 2 30888 8712 838 302 1614 0 14950 3492 980 0.023810 0.000000 0.000000 0.000000 0.034483 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 40 0 0 0 27 0 11 0 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T A T>A 0.000 -0.360 255 PASS . 0.01 . 0.03 . . 0.0042 . 0.021 . . . . . . . 0.4375 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . 0.0487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.53 0.42 182 ENSG00000119535 CSF3R CSF3R . . . . . . 33 0.00050788 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34363849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0014 0 0 0.0180 0 0.0007 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 rs34363849 rs34363849 rs34363849 rs34363849 1 1538 10 1/0 0,255,255 +rs201154276 1 39696961 C G - MACF1 13664 Microtubule-actin crosslinking factor 1 NM_012090.5 1 17689 16293 NP_036222.3 substitution intron GRCh37 39696961 39696961 Chr1(GRCh37):g.39696961C>G 282+46 282+46 NM_012090.5:c.282+46C>G p.? p.? 2 2 608271 46 5' 84.2838 9.45172 0.964747 5.558 84.2838 9.45172 0.964747 5.37801 0 rs201154276 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000745 0.000000 0.000000 0.000000 0.000000 0.000033 0.001392 0.000945 0.000776 0.001392 206 0 0 0 0 1 176 24 5 276356 24032 34342 10120 18866 30736 126406 25408 6446 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 204 0 0 0 0 1 174 24 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 79 transversion C G C>G 0.000 0.044 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.42307693 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||MACF1|mRNA|CODING|NM_012090|) . 0.0004 0.0006 . 0.0004 0.0006 . 0.1164 . . . . . . . . 6.788e-04 . . . 0 0.0005 0 0 0.0003 0.0010 0 6.071e-05 0 0.0005 0 0 0.0008 0.0009 0.0014 6.106e-05 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.28 0.21 182 ENSG00000127603 MACF1 MACF1 . . . . . . 37 0.000569441 64976 35 0.000583469 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201154276 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv870829 0.000384 . . . . . 0 0.0007 0 0 0 0.0009 0.0013 0.0002 3.254e-05 0 0.0014 0 0 0 0.0011 0.0023 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs201154276 rs201154276 1 1538 10 1/0 0,255,255 +rs140351948 1 39823593 G A - MACF1 13664 Microtubule-actin crosslinking factor 1 NM_012090.5 1 17689 16293 NP_036222.3 substitution intron GRCh37 39823593 39823593 Chr1(GRCh37):g.39823593G>A 5757+28 5757+28 NM_012090.5:c.5757+28G>A p.? p.? 39 39 608271 28 5' 94.6745 X.23 0.996343 7.47368 94.6745 X.23 0.996343 7.19552 0 rs140351948 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000088 0.000043 0.000033 0.000000 0.000000 0.000000 0.000127 0.000132 0.000361 0.000132 21 1 1 0 0 0 14 3 2 239316 23316 30158 6808 18180 22416 110182 22714 5542 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 1 0 0 0 14 3 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 3 0 3 0.000348918 0 0.000230698 0.000348918 0 0.000230698 27 transition G A G>A 0.000 0.125 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.45833334 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||MACF1|mRNA|CODING|NM_012090|) . 0.0002 0.0003 . 0.0002 0.0003 . 0.2215 . . . . . . . . 7.906e-05 . . . 0.0001 9.2e-05 0 0 0 0.0002 0 0 0.0001 9.884e-05 0 0 0.0002 0.0001 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.51 0.16 182 ENSG00000127603 MACF1 MACF1 . . . . . . 7 0.000107732 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140351948 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv870829 0.000231 . . . . . 6.854e-05 9.119e-05 3.411e-05 0 0 5.203e-05 0.0001 0.0004 0 0 6.458e-05 0 0 0 0.0006 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs140351948 rs140351948 1 1538 10 1/0 0,255,255 +rs150126878 1 40235409 G A - BMP8B 1075 Bone morphogenetic protein 8b NM_001720.4 -1 4822 1209 NP_001711.2 P34820 substitution intron GRCh37 40235409 40235409 Chr1(GRCh37):g.40235409G>A 673+4571 673+4571 NM_001720.4:c.673+4571C>T p.? p.? 3 3 602284 4571 5' 81.398 9.19553 0.681985 X.23 81.398 9.19553 0.681985 X.23 0 Cryptic Acceptor Strongly Activated 40235398 V.37 0.214227 75.0835 5.68954 0.238644 79.1854 rs150126878 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000859 0.000042 0.000029 0.000102 0.000000 0.000000 0.001574 0.001174 0.000939 0.001574 235 1 1 1 0 0 196 30 6 273620 23852 34250 9824 18830 30426 124488 25562 6388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 235 1 1 1 0 0 196 30 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 40 COSM140924 Upper aerodigestive tract 0.000803 1245 transition C T C>T 0.008 1.013 255 PASS . . . . . . 0.0004 . . 0.002 . ENSG00000198754:ENST00000327582:exon1:c.C1519T:p.P507S OXCT2:uc001ceb.1:exon1:c.C1519T:p.P507S OXCT2:NM_022120:exon1:c.C1519T:p.P507S . . 0.6283784 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.055 . @ . . . . . 1 0.096 . . 148.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . -0.7085 -0.766 -0.708 c . . . . . 8.287e-04 . . . 0 0.0007 0 0 0.0008 0.0014 0 0 0 0.0007 0 0 0.0010 0.0012 0.0016 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.921 . . exonic exonic exonic . . 0.224 0.0004 . . . 0.22 0.21 182 ENSG00000198754 OXCT2 OXCT2 . . . 0.004 0.104 . 32 0.00049249 64976 30 0.000500117 59986 Uncertain_significance . 0 . 0.559 . . . . D 0.657 0.054 . . 37 . 0.821 . . 0.669 . . . 0.646 0.213 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.189 . . 0.170 . . . . . . 1 0.148 . . . . . 0.275 . 0.362 . HET 0.09 rs150126878 . . . . . . ID\x3dCOSM140924\x3bOCCURENCE\x3d1(upper_aerodigestive_tract) . . . . . VII.84 0.0 ENST00000327582 2.V I.57 . 0.390000 . . . . 0.000384 . 0.262 . . . 0 0.0007 2.993e-05 0.0001 0 0.0011 0.0013 0.0002 0 0.0001 0.0020 0 0 0 0.0014 0.0035 0.0051 . . 0.550 . 0.597 0.597000 . . 0.390000 . . 1.0E-255 0.794 0.294 . 0.218 0.083 . 0.521 . 0.382 0.597 0.913 0.0006 . . rs150126878 rs150126878 1 1538 10 1/0 0,238,236 +rs150126878 1 40235409 G A - OXCT2 18606 3-oxoacid CoA transferase 2 NM_022120.1 -1 1824 1554 NP_071403.1 Q9BYC2 substitution missense exon GRCh37 40235409 40235409 Chr1(GRCh37):g.40235409G>A 1519 1519 NM_022120.1:c.1519C>T p.Pro507Ser p.Pro507Ser 1 610289 3-oxoacid CoA-transferase rs150126878 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000859 0.000042 0.000029 0.000102 0.000000 0.000000 0.001574 0.001174 0.000939 0.001574 235 1 1 1 0 0 196 30 6 273620 23852 34250 9824 18830 30426 124488 25562 6388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 235 1 1 1 0 0 196 30 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 40 COSM140924 Upper aerodigestive tract 0.000803 1245 transition C T C>T 0.008 1.013 P Pro CCG 0.115 S Ser TCG 0.056 507 12 6 Fruitfly -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.06 III.59 good 8.567E-2 0.03487 255 PASS . . . . . . 0.0004 . . 0.002 . ENSG00000198754:ENST00000327582:exon1:c.C1519T:p.P507S OXCT2:uc001ceb.1:exon1:c.C1519T:p.P507S OXCT2:NM_022120:exon1:c.C1519T:p.P507S . . 0.6283784 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.055 . @ . . . . . 1 0.096 . . 148.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . -0.7085 -0.766 -0.708 c . . . . . 8.287e-04 . . . 0 0.0007 0 0 0.0008 0.0014 0 0 0 0.0007 0 0 0.0010 0.0012 0.0016 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.921 . . exonic exonic exonic . . 0.224 0.0004 . . . 0.22 0.21 182 ENSG00000198754 OXCT2 OXCT2 . . . 0.004 0.104 . 32 0.00049249 64976 30 0.000500117 59986 Uncertain_significance . 0 . 0.559 . . . . D 0.657 0.054 . . 37 . 0.821 . . 0.669 . . . 0.646 0.213 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.189 . . 0.170 . . . . . . 1 0.148 . . . . . 0.275 . 0.362 . HET 0.09 rs150126878 . . . . . . ID\x3dCOSM140924\x3bOCCURENCE\x3d1(upper_aerodigestive_tract) . . . . . VII.84 0.0 ENST00000327582 2.V I.57 . 0.390000 . . . . 0.000384 . 0.262 . . . 0 0.0007 2.993e-05 0.0001 0 0.0011 0.0013 0.0002 0 0.0001 0.0020 0 0 0 0.0014 0.0035 0.0051 . . 0.550 . 0.597 0.597000 . . 0.390000 . . 1.0E-255 0.794 0.294 . 0.218 0.083 . 0.521 . 0.382 0.597 0.913 0.0006 . . rs150126878 rs150126878 1 1538 10 1/0 0,238,236 +rs6665926 (chr1:40533287 T/G) 1 40533287 T G Transcript NM_001105530.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) CAP1 +. 1 41503101 C CCGG - SCMH1 19003 Sex comb on midleg homolog 1 (Drosophila) NM_001031694.2 -1 3347 1983 NP_001026864.1 Q96GD3 duplication in-frame exon GRCh37 41503101 41503102 Chr1(GRCh37):g.41503102_41503104dup 1578 1580 NM_001031694.2:c.1578_1580dup p.Arg527dup p.Arg527dup 13 616396 -68 5' 82.206 7.78959 0.990189 III.51 82.206 7.78959 0.990189 4.16176 0 rs754438637 yes no Frequency 1 0.000000 0 0.000364 0.000000 0.000029 0.003645 0.000000 0.000000 0.000490 0.000000 0.000155 0.003645 101 0 1 37 0 0 62 0 1 277166 24036 34416 10152 18870 30782 126650 25794 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 0 1 37 0 0 62 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8251 4266 12517 3 0 3 0.00036346 0 0.000239617 0.00036346 0 0.000239617 178 CCG 255 Pass . . . . . . . . . . . . . . . . 0.4057971 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 69 . . . . 0.0002 0.0004 . 0.0002 0.0004 . . . . . . . . . . 4.025e-04 . . . 0 0.0004 0 0 0 0.0008 0 0 0 0.0003 0 0 0 0.0006 0 0 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000010803 SCMH1 SCMH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754438637 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv269066 0.000240 . . . . . 0 0.0004 2.978e-05 0.0037 0 0 0.0005 0 0 0 0.0003 0 0.0033 0 0 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . . . 1 1538 10 1.I 0,12,39 +. 1 41503101 C CCGG - SLFNL1-AS1 44126 SLFNL1 antisense RNA 1 NR_037868.1 1 4800 0 duplication intron GRCh37 41503104 41503105 Chr1(GRCh37):g.41503102_41503104dup 3993-616 3993-614 NR_037868.1:n.3993-616_3993-614dup p.? p.? 3 2 -613 3' 82.6257 8.30694 0.899179 7.03449 82.6257 8.30694 0.899179 7.03449 0 New Donor Site 41503106 1.95931 0.003396 60.1875 rs754438637 yes no Frequency 1 0.000000 0 0.000364 0.000000 0.000029 0.003645 0.000000 0.000000 0.000490 0.000000 0.000155 0.003645 101 0 1 37 0 0 62 0 1 277166 24036 34416 10152 18870 30782 126650 25794 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 0 1 37 0 0 62 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8251 4266 12517 3 0 3 0.00036346 0 0.000239617 0.00036346 0 0.000239617 178 CGG 255 Pass . . . . . . . . . . . . . . . . 0.4057971 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 69 . . . . 0.0002 0.0004 . 0.0002 0.0004 . . . . . . . . . . 4.025e-04 . . . 0 0.0004 0 0 0 0.0008 0 0 0 0.0003 0 0 0 0.0006 0 0 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000010803 SCMH1 SCMH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754438637 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv269066 0.000240 . . . . . 0 0.0004 2.978e-05 0.0037 0 0 0.0005 0 0 0 0.0003 0 0.0033 0 0 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . . . 1 1538 10 1.I 0,12,39 +rs754704393 1 43263751 C T - TMEM269 52381 Transmembrane protein 269 NM_001354602.1 1 3354 738 NP_001341531.1 substitution intron GRCh37 43263751 43263751 Chr1(GRCh37):g.43263751C>T 611-18 611-18 NM_001354602.1:c.611-18C>T p.? p.? 6 5 -18 3' 99.1575 XI.76 0.982064 9.90669 99.1575 12.0685 0.990204 9.88451 0.00698468 rs754704393 yes no Frequency 1 C 0.000000 0 0.000147 0.000064 0.000000 0.000474 0.000000 0.000000 0.000117 0.000639 0.000000 0.000639 26 1 0 4 0 0 8 13 0 176522 15570 24704 8442 11746 22592 68252 20334 4882 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 1 0 4 0 0 8 13 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.6122449 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . INTRON(MODIFIER||||LOC100129924|mRNA|CODING|NM_001242750|) . . . . . . . 0.2232 . . . . . . . . 2.416e-04 . . . 0 0.0002 0 0 0 0.0006 0 0 0 0.0001 0 0 0.0006 0.0002 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000164008 LOC100129924 LOC100129924 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754704393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0.0004 0 0.0008 0.0001 0 0 0.0001 0.0001 0 0.0033 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200782662 1 45476563 T C - HECTD3 26117 HECT domain containing 3 NM_024602.5 -1 3628 2586 NP_078878.3 Q5T447 substitution missense exon GRCh37 45476563 45476563 Chr1(GRCh37):g.45476563T>C 367 367 NM_024602.5:c.367A>G p.Lys123Glu p.Lys123Glu 1 -3 5' 78.7671 9.04567 0.912495 XI.49 76.0191 7.52496 0.801801 X.44 -0.108104 rs200782662 yes no Frequency 1 T 0.000000 0 0.000167 0.000046 0.000000 0.000000 0.000128 0.000000 0.000285 0.000078 0.000220 0.000285 33 1 0 0 2 0 28 1 1 197042 21596 21452 4690 15602 18048 98266 12840 4548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 1 0 0 2 0 28 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 1.000 2.788 K Lys AAG 0.575 E Glu GAG 0.583 123 12 8 Tetraodon 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Deleterious 0 IV.32 bad 8.693E-5 9.786E-5 255 PASS . . . . . . . . . . . ENSG00000126107:ENST00000372172:exon1:c.A367G:p.K123E HECTD3:uc009vxk.3:exon1:c.A367G:p.K123E HECTD3:NM_024602:exon1:c.A367G:p.K123E . . 0.3974359 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.450 . . 78.0 . . . . . . . . . . -0.2377 -0.062 -0.238 c . . . . . 1.838e-04 . . . 0.0001 0.0002 0 0 0 0.0003 0.0019 0 0.0001 0.0001 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.608 . . exonic exonic exonic . . 0.486 @ . . . 0.27 0.46 182 ENSG00000126107 HECTD3 HECTD3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.347 . . . . D 0.762 0.094 . . 37 . 0.364 . . 0.254 . . . 0.159 0.388 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.176 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.355 . . . . . 0.320 . 0.483 . HET 0.07 rs200782662 . . . . . . . . . . . . VIII.21 3.47E-4 ENST00000372172 4.II 4.II . 0.070000 Q5T447 0.1306 0.336 . . . 0.325 . . 4.II 7.751e-05 0.0002 0 0 0.0001 0 0.0003 0.0003 0 0 0.0002 0 0 0 0.0003 0.0003 0 . . 0.994 . 1.902 1.902000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.587 0.721 . 0.540 . 0.635 1.902 0.673 . . . rs200782662 rs200782662 1 1538 10 1/0 0,255,255 +rs200782662 1 45476563 T C - UROD 12591 Uroporphyrinogen decarboxylase NM_000374.4 1 1408 1104 NP_000365.3 P06132 substitution upstream GRCh37 45476563 45476563 Chr1(GRCh37):g.45476563T>C -1375 -1375 NM_000374.4:c.-1375T>C p.? p.? 1 613521 -1395 5' 83.6222 7.93332 0.944277 3.29665 83.6222 7.93332 0.944277 3.29665 0 rs200782662 yes no Frequency 1 T 0.000000 0 0.000167 0.000046 0.000000 0.000000 0.000128 0.000000 0.000285 0.000078 0.000220 0.000285 33 1 0 0 2 0 28 1 1 197042 21596 21452 4690 15602 18048 98266 12840 4548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 1 0 0 2 0 28 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 1.000 2.788 255 PASS . . . . . . . . . . . ENSG00000126107:ENST00000372172:exon1:c.A367G:p.K123E HECTD3:uc009vxk.3:exon1:c.A367G:p.K123E HECTD3:NM_024602:exon1:c.A367G:p.K123E . . 0.3974359 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.450 . . 78.0 . . . . . . . . . . -0.2377 -0.062 -0.238 c . . . . . 1.838e-04 . . . 0.0001 0.0002 0 0 0 0.0003 0.0019 0 0.0001 0.0001 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.608 . . exonic exonic exonic . . 0.486 @ . . . 0.27 0.46 182 ENSG00000126107 HECTD3 HECTD3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.347 . . . . D 0.762 0.094 . . 37 . 0.364 . . 0.254 . . . 0.159 0.388 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.176 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.355 . . . . . 0.320 . 0.483 . HET 0.07 rs200782662 . . . . . . . . . . . . VIII.21 3.47E-4 ENST00000372172 4.II 4.II . 0.070000 Q5T447 0.1306 0.336 . . . 0.325 . . 4.II 7.751e-05 0.0002 0 0 0.0001 0 0.0003 0.0003 0 0 0.0002 0 0 0 0.0003 0.0003 0 . . 0.994 . 1.902 1.902000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.587 0.721 . 0.540 . 0.635 1.902 0.673 . . . rs200782662 rs200782662 1 1538 10 1/0 0,255,255 +rs72679863 1 47014821 A G - KNCN 26488 Kinocilin NM_001322255.1 -1 2909 375 NP_001309184.1 A6PVL3 substitution intron GRCh37 47014821 47014821 Chr1(GRCh37):g.47014821A>G 295+44 295+44 NM_001322255.1:c.295+44T>C p.? p.? 3 3 611455 44 5' 99.6933 X.84 0.997759 X.13 99.6933 X.84 0.997759 X.71 0 rs72679863 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.682 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.5083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.24 0.23 182 ENSG00000269956 MKNK1-AS1 MKNK1-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs72679863 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . rs72679863 rs72679863 rs72679863 1 1538 10 1/0 0,251,255 +rs72679863 1 47014821 A G - MKNK1-AS1 44129 MKNK1 antisense RNA 1 NR_038403.1 1 2445 0 substitution intron GRCh37 47014821 47014821 Chr1(GRCh37):g.47014821A>G 254+5381 254+5381 NR_038403.1:n.254+5381A>G p.? p.? 3 3 5381 5' 94.2214 9.88355 0.998289 XII.66 94.2214 9.88355 0.998289 XII.66 0 New Acceptor Site 47014822 0.197997 2,00E-06 61.5132 rs72679863 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.5083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.24 0.23 182 ENSG00000269956 MKNK1-AS1 MKNK1-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs72679863 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . rs72679863 rs72679863 rs72679863 1 1538 10 1/0 0,251,255 +rs747482535 1 47610117 C T - CYP4A22 20575 Cytochrome P450, family 4, subfamily A, polypeptide 22 NM_001010969.3 1 1678 1560 NP_001010969.2 Q5TCH4 substitution synonymous exon GRCh37 47610117 47610117 Chr1(GRCh37):g.47610117C>T 879 879 NM_001010969.3:c.879C>T p.Asp293= p.Asp293Asp 7 615341 -19 5' 83.1949 8.39958 0.988548 4.75849 83.1949 8.39958 0.988548 4.00224 0 Cytochrome P450 rs747482535 yes no Frequency 1 C 0.000000 0 0.000007 0.000042 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000042 2 1 0 0 0 0 1 0 0 276610 23946 34402 10150 18840 30780 126268 25770 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3360938|COSM3360938 Liver|Kidney 0.000422|0.001157 2371|1729 transition C T C>T 1.000 0.609 D Asp GAC 0.539 D Asp GAT 0.461 293 178 PASS . . . . . . . . . . . ENSG00000162365:ENST00000371890:exon6:c.C724T:p.H242Y CYP4A22:uc009vyp.3:exon6:c.C724T:p.H242Y CYP4A22:NM_001308102:exon6:c.C724T:p.H242Y . . 0.10909091 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.139 . @ . . . . . 1 0.286 . . 220.0 . . . . . . . . . . -0.4748 -0.492 -0.475 c . . . . . 7.892e-06 . . . 9.626e-05 1.102e-05 0 0 0 0 0 0 0.0001 9.418e-06 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.729 . . exonic exonic exonic . . 0.220 @ . . . 0.18 0.16 182 ENSG00000162365 CYP4A22 CYP4A22 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.075 0.003 . . 37 . 0.548 . . 0.449 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.800 . . 0 0 0 0 0 0 . 0.299 . . 0.335 . . . . . . 0 0.373 . . . . . 0.133 . . . LowAF 0.09 rs747482535 . . . . . . ID\x3dCOSM3360938\x3bOCCURENCE\x3d2(kidney) . . . . . IV.77 . ENST00000371890 I.51 I.51 . 0.300000 Q5TCH5 . . Name\x3ddgv221n71 . . 0.306 . . . 6.534e-05 4.067e-06 0 0 0 0 0 0 0 0 3.255e-05 0 0 0 0 6.712e-05 0 . . 0.185 . 0.842 0.842000 . . 0.300000 . . 1.0E-178 1.000 0.715 . 0.240 0.995 . 0.273 . 0.284 0.842 0.666 . rs12754799 rs12754799 rs12754799 rs12754799 1 1538 10 1/0 0,193,255 +rs145909683 1 47904167 G A - FOXD2 3803 Forkhead box D2 NM_004474.3 1 4675 1488 NP_004465.3 O60548 substitution synonymous exon GRCh37 47904167 47904167 Chr1(GRCh37):g.47904167G>A 360 360 NM_004474.3:c.360G>A p.Ala120= p.Ala120Ala 1 602211 rs145909683 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.001466 0.000294 0.000527 0.000639 0.000000 0.000107 0.002462 0.001640 0.001806 0.002462 362 6 16 6 0 3 283 38 10 246954 20400 30388 9390 15188 27936 114948 23168 5536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 362 6 16 6 0 3 283 38 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4404 12987 17 2 19 0.00197674 0.000453926 0.00146086 0.00197674 0.000453926 0.00146086 20 transition G A G>A 0.008 -0.037 A Ala GCG 0.107 A Ala GCA 0.226 120 255 PASS . 0.0018 0.01 . 0.0013 . 0.001 0.0043 . 0.002 . ENSG00000186564:ENST00000334793:exon1:c.G360A:p.A120A FOXD2:uc001crm.3:exon1:c.G360A:p.A120A FOXD2:NM_004474:exon1:c.G360A:p.A120A . . 0.5090909 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 55.0 . . . 0.0005 0.0015 0.002 0.0005 0.0015 0.002 . I.19 . . . . . . . . 1.430e-03 . . . 0.0003 0.0014 0.0004 0 0.0024 0.0028 0 0.0001 0.0003 0.0015 0.0004 0 0.0018 0.0025 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.31 0.38 182 ENSG00000186564 FOXD2 FOXD2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145909683 . . . . . . . . . . . . . . . . . . . . . . . 0.001461 . . . . . 0.0003 0.0015 0.0005 0.0007 0 0.0016 0.0026 0.0021 0.0001 0.0002 0.0012 0.0022 0 0 0.0032 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145909683 rs145909683 1 1538 10 1/0 0,255,255 +rs145909683 1 47904167 G A - LINC01389 50661 Long intergenic non-protein coding RNA 1389 NR_126355.1 -1 861 0 substitution upstream GRCh37 47904167 47904167 Chr1(GRCh37):g.47904167G>A -1178 -1178 NR_126355.1:n.-1178C>T p.? p.? 1 -1206 5' 87.2541 7.65636 0.561322 9.09697 87.2541 7.65636 0.561322 9.09697 0 rs145909683 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.001466 0.000294 0.000527 0.000639 0.000000 0.000107 0.002462 0.001640 0.001806 0.002462 362 6 16 6 0 3 283 38 10 246954 20400 30388 9390 15188 27936 114948 23168 5536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 362 6 16 6 0 3 283 38 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4404 12987 17 2 19 0.00197674 0.000453926 0.00146086 0.00197674 0.000453926 0.00146086 20 transition C T C>T 0.008 -0.037 255 PASS . 0.0018 0.01 . 0.0013 . 0.001 0.0043 . 0.002 . ENSG00000186564:ENST00000334793:exon1:c.G360A:p.A120A FOXD2:uc001crm.3:exon1:c.G360A:p.A120A FOXD2:NM_004474:exon1:c.G360A:p.A120A . . 0.5090909 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 55.0 . . . 0.0005 0.0015 0.002 0.0005 0.0015 0.002 . I.19 . . . . . . . . 1.430e-03 . . . 0.0003 0.0014 0.0004 0 0.0024 0.0028 0 0.0001 0.0003 0.0015 0.0004 0 0.0018 0.0025 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.31 0.38 182 ENSG00000186564 FOXD2 FOXD2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145909683 . . . . . . . . . . . . . . . . . . . . . . . 0.001461 . . . . . 0.0003 0.0015 0.0005 0.0007 0 0.0016 0.0026 0.0021 0.0001 0.0002 0.0012 0.0022 0 0 0.0032 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145909683 rs145909683 1 1538 10 1/0 0,255,255 +rs143626823 1 52082881 C T - OSBPL9 16386 Oxysterol binding protein like 9 NM_148909.3 1 3908 2241 NP_683707.3 substitution synonymous exon GRCh37 52082881 52082881 Chr1(GRCh37):g.52082881C>T 99 99 NM_148909.3:c.99C>T p.Leu33= p.Leu33Leu 1 606737 -13 5' 86.4167 XI.33 0.995223 XI.94 86.4167 XI.33 0.995223 X.66 0 Pleckstrin homology domain rs143626823 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000800 0.001000 0.000000 0.005000 0.002900 0.004548 0.001273 0.004925 0.000894 0.000000 0.002599 0.006718 0.003599 0.004229 0.006718 1242 30 167 9 0 78 839 92 27 273112 23572 33906 10070 18722 30006 124886 25566 6384 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 1236 30 167 9 0 78 835 90 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8348 4102 12450 54 4 58 0.00642704 0.000974184 0.00463703 0.00642704 0.000974184 0.00463703 78 transition C T C>T 0.291 -1.328 L Leu CTC 0.197 L Leu CTT 0.129 33 255 PASS . 0.0023 0.0028 . 0.01 0.0008 0.0018 0.0029 . 0.005 0.001 . . . . . 0.48453608 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . . 0.001 0.0046 0.0064 0.001 0.0046 0.0064 . I.99 . . . . . . . . 4.008e-03 . . . 0.0005 0.0052 0.0063 0 0.0019 0.0077 0.0071 0.0029 0.0006 0.0047 0.0065 0 0.0037 0.0063 0.0037 0.0029 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.61 0.49 182 ENSG00000117859 OSBPL9 OSBPL9 . . . . . . 436 0.00671017 64976 427 0.00711833 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143626823 . . . . . . . . . . . . . . . . . . . . . . . 0.004637 . . . . . 0.0008 0.0046 0.0049 0.0009 0 0.0036 0.0067 0.0050 0.0026 0.0021 0.0043 0.0048 0 0 0.0037 0.0065 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs143626823 rs143626823 1 1538 10 1/0 0,255,255 +rs182127561 1 53459055 C T - SCP2 10606 Sterol carrier protein 2 NM_002979.4 1 2725 1644 NP_002970.2 P22307 substitution intron GRCh37 53459055 53459055 Chr1(GRCh37):g.53459055C>T 1081+5247 1081+5247 NM_002979.4:c.1081+5247C>T p.? p.? 11 11 184755 5247 5' 82.5885 9.42864 0.959161 1.36347 82.5885 9.42864 0.959161 1.36347 0 rs182127561 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.003000 0.004300 0.002971 0.000115 0.001193 0.003311 0.002472 0.000000 0.001133 0.017459 0.007128 0.017459 92 1 1 1 4 0 17 61 7 30968 8726 838 302 1618 0 15008 3494 982 0.010870 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.016393 0.000000 1 0 0 0 0 0 0 1 0 90 1 1 1 4 0 17 59 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 1.000 0.367 255 PASS . 0.0023 0.01 . 0.004 . 0.0012 0.0043 . 0.003 . . . . . . 0.4057971 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.1323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5\x3bUTR3 UTR3 . . . 0.0012 . . . 0.47 0.57 182 ENSG00000236360 SCP2\x3bSCP2 SCP2 . uc001cus.2:c.-21638C>T\x3buc001cuq.2:c.*106C>T NM_001007098:c.*106C>T . . . 168 0.00258557 64976 162 0.00270063 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs182127561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0030 0.0012 0.0033 0.0025 0.0175 0.0011 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs182127561 rs182127561 1 1538 10 1/0 0,255,255 +rs767203305 1 53728283 C T - LRP8 6700 Low density lipoprotein receptor-related protein 8, apolipoprotein e receptor NM_004631.4 -1 7783 2892 NP_004622.2 Q14114 substitution intron GRCh37 53728283 53728283 Chr1(GRCh37):g.53728283C>T 1656-47 1656-47 NM_004631.4:c.1656-47G>A p.? p.? 11 10 602600 -47 3' 91.4847 X.78 0.986117 5.499 91.4847 X.78 0.986117 V.19 0 rs767203305 yes no Frequency 1 C 0.000000 0 0.000037 0.000000 0.000000 0.000000 0.000000 0.000033 0.000045 0.000147 0.000000 0.000147 9 0 0 0 0 1 5 3 0 243054 15168 33510 9738 17202 30678 110916 20404 5438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 0 0 1 5 3 0 0 0 0 0 0 0 0 0 0 PASS 113 Exomes transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.60294116 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . 0.0062 . . . . . . . . 2.368e-05 . . . 0 1.116e-05 0 0 0 2.411e-05 0 0 0 1.897e-05 0 0 0 3.705e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000157193 LRP8 LRP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs767203305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.703e-05 0 0 0 0.0001 4.508e-05 0 3.26e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs41313377 1 54301186 T C - NDC1 25525 NDC1 transmembrane nucleoporin NM_018087.4 -1 4826 2025 NP_060557.3 Q9BTX1 substitution missense exon GRCh37 54301186 54301186 Chr1(GRCh37):g.54301186T>C 165 165 NM_018087.4:c.165A>G p.Ile55Met p.Ile55Met 2 610115 -14 5' 81.4083 8.36849 0.635323 0 81.4083 8.36849 0.635323 0 0 Nucleoporin protein Ndc1-Nup rs41313377 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003000 0.000000 0.000000 0.009900 0.002900 0.008055 0.002373 0.004171 0.000987 0.000000 0.000425 0.011406 0.019596 0.008834 0.019596 2228 57 143 10 0 13 1443 505 57 276590 24016 34282 10130 18848 30580 126512 25770 6452 0.000094 0.000000 0.000058 0.000000 0.000000 0.000000 0.000095 0.000466 0.000000 13 0 1 0 0 0 6 6 0 2202 57 141 10 0 13 1431 493 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8502 4394 12896 98 12 110 0.0113953 0.00272356 0.00845763 0.0113953 0.00272356 0.00845763 72 transition A G A>G 0.992 -0.037 I Ile ATA 0.163 M Met ATG 1.000 55 12 9 C. elegans 2 1 2 0 0 5.II 5.VII 111 105 10 C0 96.19 0.00 Tolerated 0.07 II.96 good 5.949E-2 0.01504 255 PASS 0.002 0.0046 0.0028 . 0.01 0.003 0.0032 0.0029 . 0.0099 . . . . . . 0.50666666 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.635 . @ . . . . . 1 0.600 . . 75.0 . . . 0.0027 0.0085 0.011 0.0027 0.0085 0.011 . 0.1971 0.155 0.197 c . . . . . 8.611e-03 . . . 0.0022 0.0065 0.0034 0 0.0197 0.0104 0.0056 0.0005 0.0022 0.0083 0.0035 0 0.0197 0.0126 0.0043 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.488 . . exonic exonic exonic . . 0.232 0.0032 . . . 0.33 0.38 182 ENSG00000058804 NDC1 NDC1 . . . 1.000 0.747 . 645 0.00992674 64976 631 0.0105191 59986 Likely_benign . 0 . 0.320 . . . . . . . . . 37 . 0.409 . . 0.411 . . . 0.597 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.524 . . 0.592 . . . . . . 1 0.599 . . . . . 0.041 . 0.234 . HET 0.03 rs41313377 . . . . . . . 0.004578754578754579 0.0020325203252032522 0.0027624309392265192 0.0 0.010554089709762533 II.87 0.002943 . V.34 1.VII . 0.130000 . . . . 0.008458 . 0.294 . . . 0.0023 0.0080 0.0042 0.0010 0 0.0195 0.0115 0.0080 0.0004 0.0025 0.0089 0.0048 0 0 0.0203 0.0110 0.0133 . . 0.924 . 0.332 0.332000 . . 0.130000 . . 1.0E-255 0.995 0.385 . 0.697 0.969 . 0.167 . 0.158 0.332 -0.539 0.011 rs41313377 rs41313377 rs41313377 rs41313377 1 1538 10 1/0 0,255,255 +. 1 55277810 CT C - LEXM 26854 Lymphocyte expansion molecule NM_001110533.1 1 1702 1257 NP_001104003.1 Q3ZCV2 deletion frameshift exon GRCh37 55277813 55277813 Chr1(GRCh37):g.55277813del 713 713 NM_001110533.1:c.713del p.Phe238Serfs*24 p.Phe238Serfs*24 6 616446 -50 5' 85.464 6.99123 0.973926 8.38764 85.464 6.99123 0.973926 7.87753 0 T 255 Pass . . . . . . . . . . . . . . . . 0.51758796 . . . 103 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000162398 C1orf177 LEXM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,29 +rs375372678 1 62995012 G C - DOCK7 19190 Dedicator of cytokinesis 7 NM_001271999.1 -1 7182 6390 NP_001258928.1 substitution synonymous exon GRCh37 62995012 62995012 Chr1(GRCh37):g.62995012G>C 3717 3717 NM_001271999.1:c.3717C>G p.Ala1239= p.Ala1239Ala 30 615730 -65 5' 76.5187 8.15953 0.863499 0 76.5187 8.15953 0.863499 0 0 rs375372678 yes no Frequency 1 G 0.000000 0 0.000163 0.000000 0.000000 0.000000 0.000000 0.000000 0.000285 0.000310 0.000155 0.000310 45 0 0 0 0 0 36 8 1 276586 24018 34234 10142 18828 30742 126390 25776 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 0 0 0 0 0 36 8 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 98 transversion C G C>G 1.000 0.690 A Ala GCC 0.403 A Ala GCG 0.107 1239 255 PASS . . . . . . . . . . . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.1946 . . . . . . . . 1.263e-04 . . . 0 9.937e-05 0 0 0.0005 0.0002 0 0 0 0.0001 0 0 0.0003 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.29 182 ENSG00000116641 DOCK7 DOCK7 . . . . . . 5 7.69515e-05 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375372678 . . . . . . . . . . . . II.95 0.0 ENST00000454575 V.84 I.79 . . . . . . 0.000154 . . . . . 0 0.0001 0 0 0 0.0003 0.0002 0.0002 0 0 0.0005 0 0 0 0.0003 0.0009 0 . . . . 0.066 0.066000 . . . . . 1.0E-255 . . . . . . . . . 0.066 . 0.0002 . . rs375372678 . 1 1538 10 1/0 0,255,255 +rs183174463 1 67401626 T C - MIER1 29657 MIER1 transcriptional regulator NM_001350530.1 1 5662 1809 NP_001337459.1 substitution intron GRCh37 67401626 67401626 Chr1(GRCh37):g.67401626T>C 243-4085 243-4085 NM_001350530.1:c.243-4085T>C p.? p.? 4 3 616848 -4085 3' 80.9161 9.18237 0.973148 2.31274 80.9161 9.18237 0.973148 2.31274 0 rs183174463 yes no Frequency/1000G 2 T 0.000000 0 0.014177 0.000000 0.055200 0.002000 0.007000 0.011500 0.005007 0.001584 0.007772 0.018382 0.000000 0.000000 0.007719 0.001873 0.008830 0.018382 143 13 6 5 0 0 105 6 8 28560 8208 772 272 1596 0 13602 3204 906 0.006993 0.000000 0.000000 0.000000 0.000000 0.000000 0.009524 0.000000 0.000000 1 0 0 0 0 0 1 0 0 141 13 6 5 0 0 103 6 8 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.024 1.013 255 PASS . 0.0032 0.02 . . . 0.014 0.011 0.002 0.007 0.055 . . . . . 0.47560975 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . 0.3806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0142 . . . 0.38 0.3 182 ENSG00000198160 MIER1 MIER1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183174463 0.022 0.014 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv871720 . . . . . 3.I . . . . . . . . . 0.0016 0.0050 0.0078 0.0184 0 0.0019 0.0077 0.0088 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs183174463 rs183174463 1 1538 10 1/0 0,255,255 +rs142887352 1 67559041 T C - C1orf141 32044 Chromosome 1 open reading frame 141 NM_001276351.1 -1 2177 1203 NP_001263280.1 Q5JVX7 substitution missense exon GRCh37 67559041 67559041 Chr1(GRCh37):g.67559041T>C 850 850 NM_001276351.1:c.850A>G p.Met284Val p.Met284Val 8 247 3' 94.2538 X.29 0.978343 6.15369 94.2538 X.29 0.978343 6.15369 0 Cryptic Acceptor Strongly Activated 67559028 6.99019 0.12603 79.5869 8.51289 0.168899 79.5869 rs142887352 yes no Frequency/1000G 2 T 0.000000 0 0.001931 0.000458 0.000349 0.000000 0.000000 0.000358 0.003579 0.001319 0.002167 0.003579 535 11 12 0 0 11 453 34 14 277024 24024 34416 10148 18866 30766 126572 25772 6460 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 531 11 12 0 0 11 449 34 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8574 4404 12978 24 2 26 0.00279135 0.000453926 0.00199938 0.00279135 0.000453926 0.00199938 91 transition A G A>G 0.000 0.286 M Met ATG 1.000 V Val GTG 0.468 284 11 4 Rabbit 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 252.82 0.00 Tolerated 0.24 III.19 255 PASS 0.002 0.0005 . . . . . . . . . . C1orf141:uc001ddm.2:exon8:c.A850G:p.M284V C1orf141:NM_001276351:exon8:c.A850G:p.M284V . . 0.5084746 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.015 . . 59.0 . . . 0.0005 0.002 0.0028 0.0005 0.002 0.0028 . -1.3213 -1.404 -1.321 c . . . . . 1.926e-03 . . . 0.0007 0.0014 0.0003 0 0.0003 0.0025 0.0014 0.0005 0.0007 0.0018 0.0002 0 0.0011 0.0032 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.270 . . exonic exonic exonic . . 0.146 0.0008 . . . 0.33 0.76 182 ENSG00000203963 C1orf141 C1orf141 . . . 0.015 0.126 . 86 0.00132357 64976 85 0.001417 59986 Uncertain_significance . 0 . 0.027 . . . . T 0.013 0.001 . . 37 . 0.039 . . 0.282 . . . 0.112 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.100 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 0.066 . . . . . . . 0.385 . HET 0.55 rs142887352 . . . . . . . 4.578754578754579E-4 0.0020325203252032522 0.0 0.0 0.0 . 8.03E-4 . 0.235 0.235 . 0.440000 Q5JVX7 . . . 0.001999 . 0.062 . . . 0.0006 0.0019 0.0003 0 0 0.0013 0.0036 0.0020 0.0004 0.0002 0.0020 0.0012 0 0 0.0011 0.0035 0.0031 . . 0.185 . 0.263 0.263000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.055 . 0.001 0.263 0.158 0.0028 . . rs142887352 rs142887352 1 1538 10 1/0 0,255,255 +rs529928638 1 74716511 T C - FPGT-TNNI3K 42952 FPGT-TNNI3K readthrough NM_001112808.2 1 3328 2850 NP_001106279.2 substitution intron GRCh37 74716511 74716511 Chr1(GRCh37):g.74716511T>C 675+58 675+58 NM_001112808.2:c.675+58T>C p.? p.? 6 6 58 5' 84.2838 9.45172 0.945819 0.978396 84.2838 9.45172 0.945819 1.0012 0 rs529928638 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001967 0.000126 0.000000 0.000000 0.000000 0.000000 0.002486 0.007432 0.001263 0.007432 52 1 0 0 0 0 32 18 1 26440 7944 632 280 1496 0 12874 2422 792 0.019231 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.055556 0.000000 1 0 0 0 0 0 0 1 0 50 1 0 0 0 0 32 16 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition T C T>C 0.000 0.125 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.2173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs529928638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . 0.0001 0.0020 0 0 0 0.0074 0.0025 0.0013 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs529928638 1 74716511 T C - TNNI3K 19661 TNNI3 interacting kinase NM_015978.2 1 3023 2508 NP_057062.1 Q59H18 substitution intron GRCh37 74716511 74716511 Chr1(GRCh37):g.74716511T>C 333+58 333+58 NM_015978.2:c.333+58T>C p.? p.? 4 4 613932 58 5' 84.2838 9.45172 0.945819 0.978396 84.2838 9.45172 0.945819 1.0012 0 rs529928638 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001967 0.000126 0.000000 0.000000 0.000000 0.000000 0.002486 0.007432 0.001263 0.007432 52 1 0 0 0 0 32 18 1 26440 7944 632 280 1496 0 12874 2422 792 0.019231 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.055556 0.000000 1 0 0 0 0 0 0 1 0 50 1 0 0 0 0 32 16 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition T C T>C 0.000 0.125 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.2173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs529928638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . 0.0001 0.0020 0 0 0 0.0074 0.0025 0.0013 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs183470977 1 78195476 A C - USP33 20059 Ubiquitin specific peptidase 33 NM_015017.4 -1 4533 2829 NP_055832.3 Q8TEY7 substitution intron GRCh37 78195476 78195476 Chr1(GRCh37):g.78195476A>C 810+69 810+69 NM_015017.4:c.810+69T>G p.? p.? 10 10 615146 69 5' 90.1244 8.02288 0.945488 0 90.1244 8.02288 0.945488 0 0 rs183470977 yes no Frequency/1000G 2 A 0.000000 0 0.002995 0.000000 0.000000 0.000000 0.010900 0.005800 0.007764 0.001721 0.003580 0.013245 0.000000 0.000000 0.010407 0.015589 0.008180 0.015589 240 15 3 4 0 0 156 54 8 30910 8716 838 302 1622 0 14990 3464 978 0.008333 0.000000 0.000000 0.000000 0.000000 0.000000 0.012821 0.000000 0.000000 2 0 0 0 0 0 2 0 0 236 15 3 4 0 0 152 54 8 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T G T>G 0.000 -1.328 255 PASS . 0.01 0.01 . 0.01 . 0.003 0.0058 . 0.011 . . . . . . 0.5 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.0329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.43 0.09 182 ENSG00000077254 USP33 USP33 . . . . . . 630 0.00969589 64976 615 0.0102524 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183470977 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0078 0.0036 0.0132 0 0.0156 0.0104 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs183470977 rs183470977 1 1538 10 1/0 0,255,255 +rs148330006 1 86048526 C G - CYR61 2654 Cysteine-rich, angiogenic inducer, 61 NM_001554.4 1 2295 1146 NP_001545.2 O00622 substitution missense exon GRCh37 86048526 86048526 Chr1(GRCh37):g.86048526C>G 947 947 NM_001554.4:c.947C>G p.Ser316Cys p.Ser316Cys 5 602369 104 3' 90.8775 XI.93 0.981553 13.8474 90.8775 XI.93 0.981553 13.8474 0 Cystine knot Cystine knot, C-terminal IGFBP-related, CNN rs148330006 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000800 0.003100 0.000000 0.006000 0.005800 0.004690 0.001124 0.003138 0.001379 0.000000 0.002956 0.007364 0.003722 0.004793 0.007364 1300 27 108 14 0 91 933 96 31 277212 24028 34418 10150 18870 30780 126706 25792 6468 0.000036 0.000000 0.000174 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 5 0 3 0 0 0 2 0 0 1290 27 102 14 0 91 929 96 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4400 12943 57 6 63 0.00662791 0.00136178 0.00484392 0.00662791 0.00136178 0.00484392 54 transversion C G C>G 0.913 2.304 S Ser TCC 0.220 C Cys TGC 0.552 316 14 12 Frog -1 -1 -2 I.42 II.75 9.II 5.V 32 55 112 C15 141.06 100.56 Deleterious 0.03 III.66 bad 2.694E-3 0.02362 255 PASS . 0.0027 0.0028 . 0.01 0.0008 0.0028 0.0058 . 0.006 0.0031 ENSG00000142871:ENST00000451137:exon5:c.C947G:p.S316C CYR61:uc001dle.3:exon5:c.C947G:p.S316C CYR61:NM_001554:exon5:c.C947G:p.S316C . . 0.49565217 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.658 . @ . . . . . 1 0.435 . . 115.0 . . . 0.0014 0.0048 0.0066 0.0014 0.0048 0.0066 . 0.6291 0.577 0.629 c . . . . . 4.633e-03 . . . 0.0017 0.0043 0.0033 0 0.0039 0.0066 0.0042 0.0027 0.0019 0.0045 0.0032 0 0.0036 0.0065 0.0029 0.0027 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.421 . . exonic exonic exonic . . 0.416 0.0028 . . . 0.52 0.58 182 ENSG00000142871 CYR61 CYR61 . . . 1.000 0.747 . 420 0.00646393 64976 406 0.00676825 59986 Uncertain_significance . 0 . 0.523 . . . . T 0.350 0.015 . . 37 . 0.547 . . 0.578 . . . 0.761 0.465 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.344 . . 0 0 0 0 0 0 . 0.629 . . 0.671 . . . . . . 0 0.405 . . . . . 0.620 . 0.596 . HET 0.15 rs148330006 . . . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 13.7182 0.001605 . V.67 III.71 . 0.030000 O00622 . . . 0.004844 . 0.291 . . III.71 0.0013 0.0047 0.0032 0.0014 0 0.0036 0.0074 0.0051 0.0030 0.0008 0.0045 0.0024 0 0 0.0046 0.0073 0.0031 . . 0.401 . 2.659 2.659000 . . 0.030000 . . 1.0E-255 0.934 0.322 . 0.587 0.979 . 0.510 . 0.430 2.659 -0.058 0.01 . . rs148330006 rs148330006 1 1538 10 1/0 0,254,255 +. 1 89427037 CTG C - KYAT3 33238 Kynurenine aminotransferase 3 NM_001008661.2 -1 2152 1365 NP_001008661.1 Q6YP21 deletion intron GRCh37 89427038 89427039 Chr1(GRCh37):g.89427038_89427039del 666+25 666+26 NM_001008661.2:c.666+25_666+26del p.? p.? 7 7 610656 25 5' 93.9148 X.81 0.997948 1.96071 93.9148 X.81 0.997948 I.31 0 Cryptic Acceptor Strongly Activated 89427036 4.93758 0.156906 83.44 6.34318 0.691865 79.4406 rs767531553 yes no Frequency 1 0.000000 0 0.000057 0.000000 0.000000 0.000000 0.000000 0.000000 0.000117 0.000000 0.000183 0.000117 14 0 0 0 0 0 13 0 1 245562 15298 33558 9824 17246 30738 111212 22216 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 13 0 1 0 0 0 0 0 0 0 0 0 PASS 65 Exomes CA 255 Pass . . . . . . . . . . . . . . . . 0.5 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 68 . . . . . . . . . . . . . . . . . . . 3.157e-05 . . . 0 2.205e-05 0 0 0 4.749e-05 0 0 0 2.826e-05 0 0 0 5.523e-05 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000137944 CCBL2 CCBL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs767531553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.701e-05 0 0 0 0 0.0001 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,30 +rs769631444 1 89448608 G A - KYAT3 33238 Kynurenine aminotransferase 3 NM_001008661.2 -1 2152 1365 NP_001008661.1 Q6YP21 substitution intron GRCh37 89448608 89448608 Chr1(GRCh37):g.89448608G>A 99+5327 99+5327 NM_001008661.2:c.99+5327C>T p.? p.? 2 2 610656 5327 5' 65.3354 3.40869 0.092044 0 65.3354 3.40869 0.092044 0 0 rs769631444 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000029 1 0 1 0 0 0 0 0 0 276304 23838 34378 10128 18826 30772 126160 25760 6442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3773519 Kidney 0.000578 1729 transition C T C>T 1.000 1.497 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.462 . @ . . . . . 1 0.419 . . 58.0 . . . . . . . . . . -0.1183 -0.144 -0.118 c . . . . . 1.673e-03 . . . 0.0048 0.0017 0.0012 0.0004 0.0003 0.0020 0.0014 0.0002 0.0047 0.0015 0.0013 0.0009 0.0005 0.0016 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.780 . . exonic exonic exonic . . 0.136 @ . . . . . . ENSG00000213516 RBMXL1 RBMXL1 . . . 0.997 0.349 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.423 0.020 . . 37 . 0.518 . . 0.552 . . . 0.552 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.827 . . 0 0 0 0 0 0 . 0.341 . . 0.205 . . . . . . 2 0.361 . . . . . 0.197 . 0.193 . LowAF 0.28 rs769631444 . . . . . . . . . . . . VI.27 . . I.41 0.0579 . 0.070000 Q96E39 . . Name\x3ddgv68e1 . . 0.315 . . . 0 4.072e-06 2.981e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.730 . 0.760 0.760000 . . 0.070000 . . 1.0E-183 1.000 0.715 . 0.246 0.999 . 0.639 . 0.035 0.760 0.589 . . . . . 1 1538 10 1/0 0,251,255 +rs769631444 1 89448608 G A - RBMXL1 25073 RNA binding motif protein, X-linked-like 1 NM_019610.5 -1 4987 1173 NP_062556.2 substitution missense exon GRCh37 89448608 89448608 Chr1(GRCh37):g.89448608G>A 902 902 NM_019610.5:c.902C>T p.Pro301Leu p.Pro301Leu 2 1142 3' 87.2193 8.99995 0.844295 V.42 87.2193 8.99995 0.844295 V.42 0 rs769631444 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000029 1 0 1 0 0 0 0 0 0 276304 23838 34378 10128 18826 30772 126160 25760 6442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3773519 Kidney 0.000578 1729 transition C T C>T 1.000 1.497 P Pro CCG 0.115 L Leu CTG 0.404 301 11 9 Tetraodon -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 131.32 56.87 Tolerated 0.16 III.51 good 1.267E-1 0.5255 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.462 . @ . . . . . 1 0.419 . . 58.0 . . . . . . . . . . -0.1183 -0.144 -0.118 c . . . . . 1.673e-03 . . . 0.0048 0.0017 0.0012 0.0004 0.0003 0.0020 0.0014 0.0002 0.0047 0.0015 0.0013 0.0009 0.0005 0.0016 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.780 . . exonic exonic exonic . . 0.136 @ . . . . . . ENSG00000213516 RBMXL1 RBMXL1 . . . 0.997 0.349 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.423 0.020 . . 37 . 0.518 . . 0.552 . . . 0.552 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.827 . . 0 0 0 0 0 0 . 0.341 . . 0.205 . . . . . . 2 0.361 . . . . . 0.197 . 0.193 . LowAF 0.28 rs769631444 . . . . . . . . . . . . VI.27 . . I.41 0.0579 . 0.070000 Q96E39 . . Name\x3ddgv68e1 . . 0.315 . . . 0 4.072e-06 2.981e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.730 . 0.760 0.760000 . . 0.070000 . . 1.0E-183 1.000 0.715 . 0.246 0.999 . 0.639 . 0.035 0.760 0.589 . . . . . 1 1538 10 1/0 0,251,255 +rs141468346 1 89448623 A G - KYAT3 33238 Kynurenine aminotransferase 3 NM_001008661.2 -1 2152 1365 NP_001008661.1 Q6YP21 substitution intron GRCh37 89448623 89448623 Chr1(GRCh37):g.89448623A>G 99+5312 99+5312 NM_001008661.2:c.99+5312T>C p.? p.? 2 2 610656 5312 5' 65.3354 3.40869 0.092044 0 65.3354 3.40869 0.092044 0 0 rs141468346 yes no Frequency 1 0.000000 0 0.000018 0.000170 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000170 5 4 0 0 0 0 1 0 0 274658 23478 34052 10098 18754 30712 125426 25720 6418 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3769031|COSM3769031 Skin|Pancreas 0.000812|0.001706 1232|1758 transition T C T>C 1.000 1.981 189 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.131 . . 52.0 . . . . . . . . . . -1.2109 -0.979 -1.211 c . . . . . 4.807e-03 . . . 0.0107 0.0045 0.0036 0.0002 0.0019 0.0057 0.0014 0.0007 0.0106 0.0041 0.0036 0.0014 0.0023 0.0048 0.0044 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.713 . . exonic exonic exonic . . 0.184 @ . . . 0.51 0.3 182 ENSG00000213516 RBMXL1 RBMXL1 . . . 0.999 0.384 . . . . . . . Likely_benign . 0 . 0.843 . . . . . . . . . 37 . 0.077 . . 0.441 . . . 0.001 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.214 . 0.012 . LowAF 1 rs141468346 . 0.007 . . . . . . . . . . VI.52 . . I.89 0.914 . 1.000000 Q96E39 . . Name\x3ddgv68e1 . . 0.096 . . . 0.0001 1.229e-05 0 0 0 0 9.045e-06 0 0 0.0002 6.532e-05 0 0 0 0 0 0 . . 0.730 . 0.129 0.129000 . . 1.000000 . . 1.0E-189 1.000 0.715 . 0.254 0.983 . 0.642 . 0.063 0.129 -1.042 . . . rs141468346 rs141468346 1 1538 10 1/0 0,255,255 +rs141468346 1 89448623 A G - RBMXL1 25073 RNA binding motif protein, X-linked-like 1 NM_019610.5 -1 4987 1173 NP_062556.2 substitution missense exon GRCh37 89448623 89448623 Chr1(GRCh37):g.89448623A>G 887 887 NM_019610.5:c.887T>C p.Leu296Pro p.Leu296Pro 2 1127 3' 87.2193 8.99995 0.844295 V.42 87.2193 8.99995 0.844295 V.42 0 rs141468346 yes no Frequency 1 0.000000 0 0.000018 0.000170 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000170 5 4 0 0 0 0 1 0 0 274658 23478 34052 10098 18754 30712 125426 25720 6418 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3769031|COSM3769031 Skin|Pancreas 0.000812|0.001706 1232|1758 transition T C T>C 1.000 1.981 L Leu CTT 0.129 P Pro CCT 0.283 296 11 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 243.92 0.00 Tolerated 0.58 III.59 good 9.44E-1 0.04495 189 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.131 . . 52.0 . . . . . . . . . . -1.2109 -0.979 -1.211 c . . . . . 4.807e-03 . . . 0.0107 0.0045 0.0036 0.0002 0.0019 0.0057 0.0014 0.0007 0.0106 0.0041 0.0036 0.0014 0.0023 0.0048 0.0044 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.713 . . exonic exonic exonic . . 0.184 @ . . . 0.51 0.3 182 ENSG00000213516 RBMXL1 RBMXL1 . . . 0.999 0.384 . . . . . . . Likely_benign . 0 . 0.843 . . . . . . . . . 37 . 0.077 . . 0.441 . . . 0.001 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.214 . 0.012 . LowAF 1 rs141468346 . 0.007 . . . . . . . . . . VI.52 . . I.89 0.914 . 1.000000 Q96E39 . . Name\x3ddgv68e1 . . 0.096 . . . 0.0001 1.229e-05 0 0 0 0 9.045e-06 0 0 0.0002 6.532e-05 0 0 0 0 0 0 . . 0.730 . 0.129 0.129000 . . 1.000000 . . 1.0E-189 1.000 0.715 . 0.254 0.983 . 0.642 . 0.063 0.129 -1.042 . . . rs141468346 rs141468346 1 1538 10 1/0 0,255,255 +rs145775181 1 89728437 G A - GBP5 19895 Guanylate binding protein 5 NM_001134486.2 -1 3944 1761 NP_001127958.1 Q96PP8 substitution missense exon GRCh37 89728437 89728437 Chr1(GRCh37):g.89728437G>A 1394 1394 NM_001134486.2:c.1394C>T p.Ser465Phe p.Ser465Phe 9 611467 32 3' 73.6115 5.30097 0.439566 0 73.6115 5.30097 0.439566 0 0 Guanylate-binding protein, C-terminal rs145775181 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.002137 0.000310 0.000405 0.000128 0.000000 0.000163 0.002502 0.007618 0.003162 0.007618 513 7 10 1 0 4 287 187 17 240062 22598 24680 7808 15720 24614 114720 24546 5376 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 511 7 10 1 0 4 285 187 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4404 12983 21 2 23 0.00244186 0.000453926 0.00176841 0.00244186 0.000453926 0.00176841 84 transition C T C>T 0.976 1.497 S Ser TCC 0.220 F Phe TTC 0.546 465 12 9 Platypus -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C15 115.58 90.18 Deleterious 0.01 III.27 bad 9.684E-3 0.01972 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . . . . . 0.475 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.511 . @ . . . . . 1 0.885 . . 40.0 . . . 0.0005 0.0018 0.0024 0.0005 0.0018 0.0024 . 0.5393 0.482 0.539 c . . . . . 2.076e-03 . . . 0.0003 0.0018 0.0005 0 0.0103 0.0025 0 0.0002 0.0002 0.0019 0.0005 0 0.0086 0.0025 0.0015 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.625 0.0004 . . . 0.67 0.61 182 ENSG00000154451 GBP5 GBP5 . . . 1.000 0.747 . 152 0.00233933 64976 150 0.00250058 59986 Uncertain_significance . 0 . 0.216 . . . . T 0.075 0.003 . . 37 . 0.055 . . 0.040 . . . 0.933 0.258 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.858 . . 0 0 0 0 0 0 . 0.483 . . 0.494 . . . . . . 0 0.654 . . . . . 0.466 . 0.526 . HET 0 rs145775181 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 X.37 2.68E-4 . IV.86 IV.86 . 0.000000 Q96PP8 . . . 0.001768 . 0.280 . . IV.86 0.0002 0.0020 0.0004 0.0001 0 0.0075 0.0023 0.0025 0.0002 0.0005 0.0031 0.0012 0 0 0.0086 0.0037 0.0061 . . 0.246 . 2.721 2.721000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.122 0.005 . 0.530 . 0.439 2.721 0.897 0.0026 . . rs145775181 rs145775181 1 1538 10 1/0 0,255,255 +rs142494678 1 93070934 C T - EVI5 3501 Ecotropic viral integration site 5 NM_001350197.1 -1 7793 2481 NP_001337126.1 substitution missense exon GRCh37 93070934 93070934 Chr1(GRCh37):g.93070934C>T 2000 2000 NM_001350197.1:c.2000G>A p.Arg667Lys p.Arg667Lys 18 602942 26 3' 70.8525 2.40438 0.050328 1.90278 70.8525 2.40438 0.050328 2.11644 0 rs142494678 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.003021 0.000374 0.000465 0.005714 0.000000 0.000065 0.003601 0.010345 0.004645 0.010345 837 9 16 58 0 2 456 266 30 277034 24036 34412 10150 18868 30780 126618 25712 6458 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000233 0.000000 3 0 0 0 0 0 0 3 0 831 9 16 58 0 2 456 260 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4406 12975 31 0 31 0.00360465 0 0.00238352 0.00360465 0 0.00238352 128 transition G A G>A 1.000 5.613 R Arg AGG 0.207 K Lys AAG 0.575 667 12 9 C. elegans 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 241.96 0.00 Tolerated 0.37 III.24 255 PASS . 0.0005 . . 0.0013 0.0008 0.0004 . . 0.001 . . . . . . 0.33333334 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.580 . @ . . . . . 1 0.729 . . 42.0 . . . . 0.0024 0.0036 . 0.0024 0.0036 . 0.7690 0.756 0.769 c . . . . . 2.739e-03 . . . 0.0004 0.0023 0.0007 0 0.0074 0.0039 0.0042 0 0.0003 0.0024 0.0005 0 0.0071 0.0036 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . 0.765 0.0004 . . . 0.52 0.41 182 ENSG00000067208 EVI5 EVI5 . . . 1.000 0.747 . 177 0.00272408 64976 175 0.00291735 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.428 0.020 . . 37 . 0.468 . . 0.313 . . . 0.712 0.487 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.454 . . 0 0 0 0 0 0 . 0.715 . . 0.850 . . . . . . 0 0.239 . . . . . 0.931 . 0.753 . HET 0.22 rs142494678 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 19.071 2.68E-4 . V.36 V.36 . 0.200000 . . . . 0.002384 . 0.779 . . V.36 0.0004 0.0028 0.0005 0.0059 0 0.0104 0.0032 0.0047 6.498e-05 0.0003 0.0044 0 0 0 0.0100 0.0063 0.0041 . . 0.609 . 2.481 2.481000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.529 0.929 . 0.812 . 0.362 2.481 0.871 0.0036 . . rs142494678 rs142494678 1 1538 10 1/0 0,255,255 +rs541124595 1 94528377 A G - ABCA4 34 ATP binding cassette subfamily A member 4 NM_000350.2 -1 7326 6822 NP_000341.2 P78363 substitution intron GRCh37 94528377 94528377 Chr1(GRCh37):g.94528377A>G 1761-68 1761-68 NM_000350.2:c.1761-68T>C p.? p.? 13 12 601691 -68 3' 90.0851 XI.54 0.9893 XII.54 90.0851 XI.54 0.9893 XII.38 0 rs541124595 yes no Frequency 1 A 0.000000 0 0.000355 0.000344 0.000000 0.000000 0.000000 0.000000 0.000533 0.000000 0.000000 0.000533 11 3 0 0 0 0 8 0 0 30980 8730 838 302 1622 0 15014 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 3 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||ABCA4|mRNA|CODING|NM_000350|) . . . . . . . 0.0650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198691 ABCA4 ABCA4 . . . . . . 23 0.000353977 64976 23 0.000383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs541124595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0004 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr1:102251962 G/A) 1 102251962 G A Not on a known gene +rs61806265 (chr1:102252024 T/C) 1 102252024 T C Not on a known gene +. (chr1:102252078 T/G) 1 102252078 T G Not on a known gene +. (chr1:104201348 G/A) 1 104201348 G A Not on a known gene +rs2270892 1 104235866 C T - AMY1A 474 Amylase, alpha 1A (salivary) NM_004038.3 -1 1862 1536 NP_004029.2 P04745 substitution intron GRCh37 104235866 104235866 Chr1(GRCh37):g.104235866C>T 744+56 744+56 NM_004038.3:c.744+56G>A p.? p.? 5 5 104700 56 5' 86.16 X.92 0.995842 0 86.16 X.92 0.995842 0 0 rs2270892 no no 0 0.000000 0 transition G A G>A 0.000 0.690 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.21 182 ENSG00000174876 AMY1A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2270892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2270892 rs2270892 rs2270892 rs2270892 1 1538 255 1.I 0,0,255 +rs2270892 1 104235866 C T - AMY1B 475 Amylase, alpha 1B (salivary) NM_001008218.1 -1 1838 1536 NP_001008219.1 P04745 substitution intron GRCh37 104235866 104235866 Chr1(GRCh37):g.104235866C>T 744+56 744+56 NM_001008218.1:c.744+56G>A p.? p.? 5 5 104701 56 5' 86.16 X.92 0.995842 0 86.16 X.92 0.995842 0 0 rs2270892 no no 0 0.000000 0 transition G A G>A 0.000 0.690 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.21 182 ENSG00000174876 AMY1A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2270892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2270892 rs2270892 rs2270892 rs2270892 1 1538 255 1.I 0,0,255 +rs2270892 1 104235866 C T - AMY1C 476 Amylase, alpha 1C (salivary) NM_001008219.2 -1 1895 1536 NP_001008220.1 P04745 substitution intron GRCh37 104235866 104235866 Chr1(GRCh37):g.104235866C>T 744+56 744+56 NM_001008219.2:c.744+56G>A p.? p.? 5 5 104702 56 5' 86.16 X.92 0.995842 0 86.16 X.92 0.995842 0 0 rs2270892 no no 0 0.000000 0 transition G A G>A 0.000 0.690 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.21 182 ENSG00000174876 AMY1A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2270892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2270892 rs2270892 rs2270892 rs2270892 1 1538 255 1.I 0,0,255 +. 1 104238158 C T - AMY1A 474 Amylase, alpha 1A (salivary) NM_004038.3 -1 1862 1536 NP_004029.2 P04745 substitution missense exon GRCh37 104238158 104238158 Chr1(GRCh37):g.104238158C>T 104 104 NM_004038.3:c.104G>A p.Arg35Gln p.Arg35Gln 2 104700 -65 5' 85.557 8.56441 0.924406 0 85.557 8.56441 0.924406 0 0 transition G A G>A 1.000 2.546 R Arg CGA 0.110 Q Gln CAA 0.256 35 19 15 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 26.00 38.19 Deleterious 0.03 III.36 bad 2.396E-3 6.085E-5 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.991 . . 11.0 . . . . . . . . . . -0.0245 -0.086 -0.024 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.260 @ . . . . . . ENSG00000174876 AMY1A . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.077 0.003 . . 37 . 0.495 . . 0.547 . . . . 0.530 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.490 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.682 . . . . . 0.240 . 0.341 . HOM 0 . . . . . . . . . . . . . 7.0319 . . 2.VIII 2.VIII . 0.010000 . . . . . . 0.443 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.246 . 1.150 1.150000 . . 0.010000 . . 1.0E-111 1.000 0.715 . 0.327 0.960 . 0.665 . 0.282 1.150 0.742 . . . . . 1 1538 255 1.I 0,0,255 +. 1 104238158 C T - AMY1B 475 Amylase, alpha 1B (salivary) NM_001008218.1 -1 1838 1536 NP_001008219.1 P04745 substitution missense exon GRCh37 104238158 104238158 Chr1(GRCh37):g.104238158C>T 104 104 NM_001008218.1:c.104G>A p.Arg35Gln p.Arg35Gln 2 104701 -65 5' 85.557 8.56441 0.924406 0 85.557 8.56441 0.924406 0 0 Glycosyl hydrolase, family 13, subfamily, catalytic domain transition G A G>A 1.000 2.546 R Arg CGA 0.110 Q Gln CAA 0.256 35 19 15 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 26.00 38.19 Deleterious 0.03 III.36 bad 2.396E-3 6.085E-5 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.991 . . 11.0 . . . . . . . . . . -0.0245 -0.086 -0.024 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.260 @ . . . . . . ENSG00000174876 AMY1A . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.077 0.003 . . 37 . 0.495 . . 0.547 . . . . 0.530 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.490 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.682 . . . . . 0.240 . 0.341 . HOM 0 . . . . . . . . . . . . . 7.0319 . . 2.VIII 2.VIII . 0.010000 . . . . . . 0.443 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.246 . 1.150 1.150000 . . 0.010000 . . 1.0E-111 1.000 0.715 . 0.327 0.960 . 0.665 . 0.282 1.150 0.742 . . . . . 1 1538 255 1.I 0,0,255 +. 1 104238158 C T - AMY1C 476 Amylase, alpha 1C (salivary) NM_001008219.2 -1 1895 1536 NP_001008220.1 P04745 substitution missense exon GRCh37 104238158 104238158 Chr1(GRCh37):g.104238158C>T 104 104 NM_001008219.2:c.104G>A p.Arg35Gln p.Arg35Gln 2 104702 -65 5' 85.557 8.56441 0.924406 0 85.557 8.56441 0.924406 0 0 transition G A G>A 1.000 2.546 R Arg CGA 0.110 Q Gln CAA 0.256 35 12 9 Zebrafish 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 26.00 38.19 Deleterious 0.04 III.36 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.991 . . 11.0 . . . . . . . . . . -0.0245 -0.086 -0.024 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.260 @ . . . . . . ENSG00000174876 AMY1A . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.077 0.003 . . 37 . 0.495 . . 0.547 . . . . 0.530 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.490 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.682 . . . . . 0.240 . 0.341 . HOM 0 . . . . . . . . . . . . . 7.0319 . . 2.VIII 2.VIII . 0.010000 . . . . . . 0.443 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.246 . 1.150 1.150000 . . 0.010000 . . 1.0E-111 1.000 0.715 . 0.327 0.960 . 0.665 . 0.282 1.150 0.742 . . . . . 1 1538 255 1.I 0,0,255 +. (chr1:104293195 G/A) 1 104293195 G A Not on a known gene +. (chr1:104295487 G/A) 1 104295487 G A Not on a known gene +. 1 108299785 G A - VAV3 12659 Vav 3 guanine nucleotide exchange factor NM_006113.4 -1 4769 2544 NP_006104.4 Q9UKW4 substitution intron GRCh37 108299785 108299785 Chr1(GRCh37):g.108299785G>A 1086+98 1086+98 NM_006113.4:c.1086+98C>T p.? p.? 11 11 605541 98 5' 84.5939 VIII.53 0.937729 3.73471 84.5939 VIII.53 0.937729 3.73471 0 transition C T C>T 0.000 -0.602 224 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||VAV3|mRNA|CODING|NM_006113|) . . . . . . . -0.4557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000134215 VAV3 VAV3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs61799407 1 108777900 C T - NBPF4 26550 Neuroblastoma breakpoint family, member 4 NM_001143989.2 -1 2499 1917 NP_001137461.1 Q5VWK0 substitution missense exon GRCh37 108777900 108777900 Chr1(GRCh37):g.108777900C>T 986 986 NM_001143989.2:c.986G>A p.Ser329Asn p.Ser329Asn 9 613994 10 3' 89.3741 7.81654 0.851091 5.08419 89.3741 7.81654 0.851095 5.29272 1.56662e-06 rs61799407 yes no Frequency 1 T 0.000000 0 transition G A G>A 0.000 -4.234 S Ser AGT 0.149 N Asn AAT 0.464 329 10 2 Armadillo 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.73 III.50 unknown 0.0 0.0 228 PASS . . . . . . . . . . . ENSG00000196427:ENST00000415641:exon9:c.G986A:p.S329N . NBPF4:NM_001143989:exon9:c.G986A:p.S329N . . 0.2375 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.002 . . 80.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S329N|NBPF4|mRNA|CODING|NM_001143989|NM_001143989.ex.9) . . . . . . . -2.5990 -2.638 -2.599 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.059 @ . . . 0.41 0.4 182 ENSG00000196427 NBPF4 NBPF4 . . . 0.422 0.203 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.002 . . 0.362 . . . 0.010 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.030 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.015 . 0.034 . HET 1 rs61799407 . . . . . . . . . . . . 1.0905 . . I.26 -2.52 . 0.710000 Q5T483 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -4.408 -4.408000 . . 0.710000 . . 1.0E-228 0.000 0.063 . 0.016 0.005 . 0.013 . 0.013 -4.408 -1.064 . rs61799407 rs61799407 rs61799407 rs61799407 1 1538 10 1/0 0,248,255 +. 1 108777986 A T - NBPF4 26550 Neuroblastoma breakpoint family, member 4 NM_001143989.2 -1 2499 1917 NP_001137461.1 Q5VWK0 substitution intron GRCh37 108777986 108777986 Chr1(GRCh37):g.108777986A>T 977-77 977-77 NM_001143989.2:c.977-77T>A p.? p.? 9 8 613994 -77 3' 89.3741 7.81654 0.851091 5.08419 89.3741 7.81654 0.851091 4.96428 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5800 650 138 40 188 0 3358 1178 248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 41 Genomes transversion T A T>A 0.000 -0.682 224 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . INTRON(MODIFIER||||NBPF4|mRNA|CODING|NM_001143989|) . . . . . . . -0.5236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.36 0.35 182 ENSG00000196427 NBPF4 NBPF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs79329163 rs79329163 1 1538 10 1/0 0,255,255 +rs7527376 1 108778003 C T - NBPF4 26550 Neuroblastoma breakpoint family, member 4 NM_001143989.2 -1 2499 1917 NP_001137461.1 Q5VWK0 substitution intron GRCh37 108778003 108778003 Chr1(GRCh37):g.108778003C>T 977-94 977-94 NM_001143989.2:c.977-94G>A p.? p.? 9 8 613994 -94 3' 89.3741 7.81654 0.851091 5.08419 89.3741 7.81654 0.851091 5.08419 0 rs7527376 yes no Frequency 1 T 0.000000 0 0.000174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000290 0.000000 0.000000 0.000290 1 0 0 0 0 0 1 0 0 5748 708 126 42 206 0 3454 970 242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition G A G>A 0.000 -3.830 218 PASS . . . . . . . . . . . . . . . . 0.20967741 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||NBPF4|mRNA|CODING|NM_001143989|) . . . . . . . -1.3908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.35 182 ENSG00000196427 NBPF4 NBPF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7527376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . rs7527376 rs7527376 rs7527376 rs7527376 1 1538 10 1/0 0,255,255 +rs1891694 1 108781440 G A - NBPF4 26550 Neuroblastoma breakpoint family, member 4 NM_001143989.2 -1 2499 1917 NP_001137461.1 Q5VWK0 substitution synonymous exon GRCh37 108781440 108781440 Chr1(GRCh37):g.108781440G>A 714 714 NM_001143989.2:c.714C>T p.Val238= p.Val238Val 6 613994 -71 5' 71.4448 7.13302 0.817831 IV.28 71.4448 7.13302 0.817831 3.78991 0 Cryptic Acceptor Strongly Activated 108781420 5.99676 0.319088 77.7185 6.78866 0.353333 77.7185 DUF1220 rs1891694 no no 0 A 0.000000 0 transition C T C>T 0.000 -3.265 V Val GTC 0.240 V Val GTT 0.178 238 184 PASS . . . . . . . . . . . ENSG00000196427:ENST00000415641:exon6:c.C714T:p.V238V . NBPF4:NM_001143989:exon6:c.C714T:p.V238V . . 0.12280702 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V238|NBPF4|mRNA|CODING|NM_001143989|NM_001143989.ex.6) . . . . . . . -0.9864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196427 NBPF4 NBPF4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.01 rs1891694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . rs1891694 rs1891694 rs1891694 rs1891694 1 1538 10 1/0 0,252,255 +rs191999276 1 109618488 A G - TAF13 11546 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa NM_005645.3 -1 577 375 NP_005636.1 Q15543 substitution intron GRCh37 109618488 109618488 Chr1(GRCh37):g.109618488A>G 27+55 27+55 NM_005645.3:c.27+55T>C p.? p.? 1 1 600774 55 5' 86.4167 XI.33 0.986129 XI.21 86.4167 XI.33 0.986129 XI.42 0 rs191999276 yes no Frequency/1000G 2 A 0.000000 0 0.003195 0.000000 0.005100 0.000000 0.009900 0.001400 0.008391 0.001717 0.005967 0.006623 0.000000 0.000000 0.010324 0.020619 0.011202 0.020619 260 15 5 2 0 0 155 72 11 30984 8736 838 302 1620 0 15014 3492 982 0.011538 0.000000 0.000000 0.000000 0.000000 0.000000 0.019355 0.000000 0.000000 3 0 0 0 0 0 3 0 0 254 15 5 2 0 0 149 72 11 0 0 0 0 0 0 0 0 0 PASS 43 Genomes 3155 1381 4536 27 3 30 0.00848523 0.00216763 0.0065703 0.00848523 0.00216763 0.0065703 64 transition T C T>C 0.000 -0.037 255 PASS . 0.0037 0.0028 . 0.01 . 0.0032 0.0014 . 0.0099 0.0051 . . . . . 0.50757575 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||TAF13|mRNA|CODING|NM_005645|) 0.0022 0.0066 0.0085 0.0022 0.0066 0.0085 . II.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.36 0.31 182 ENSG00000197780 TAF13 TAF13 . . . . . . 558 0.00858779 64976 542 0.00903544 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191999276 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006570 . . . . . . . . . . . . . . 0.0017 0.0084 0.0060 0.0066 0 0.0206 0.0103 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs191999276 rs191999276 1 1538 10 1/0 0,249,255 +. 1 109766576 T G - SARS 10537 Seryl-tRNA synthetase NM_006513.3 1 1939 1545 NP_006504.2 P49591 substitution intron GRCh37 109766576 109766576 Chr1(GRCh37):g.109766576T>G 137-24 137-24 NM_006513.3:c.137-24T>G p.? p.? 2 1 607529 -24 3' 89.3335 6.90603 0.98867 VII.78 89.3335 6.90603 0.98867 5.86586 0 New Acceptor Site 109766577 4.92351 0.352797 82.4276 transversion T G T>G 0.378 2.223 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . INTRON(MODIFIER||||SARS|mRNA|CODING|NM_006513|) . . . . . . . 0.5756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000031698 SARS SARS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs142987028 1 109795119 C T - CELSR2 3231 Cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) NM_001408.2 1 10540 8772 NP_001399.1 Q9HCU4 substitution synonymous exon GRCh37 109795119 109795119 Chr1(GRCh37):g.109795119C>T 2418 2418 NM_001408.2:c.2418C>T p.Asn806= p.Asn806Asn 1 604265 -893 5' 94.9812 11.083 0.997335 12.828 94.9812 11.083 0.997335 12.828 0 Cryptic Donor Strongly Activated 109795113 1.51499 0.036091 69.1964 3.52916 0.327418 74.975 Cadherin rs142987028 yes no Frequency 1 C 0.000000 0 0.000069 0.000000 0.000058 0.000197 0.000000 0.000000 0.000118 0.000000 0.000000 0.000197 19 0 2 2 0 0 15 0 0 277084 24022 34418 10148 18866 30780 126648 25734 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 2 2 0 0 15 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 109 transition C T C>T 0.866 -0.440 N Asn AAC 0.536 N Asn AAT 0.464 806 255 PASS . . . . . . . . . . . ENSG00000143126:ENST00000271332:exon1:c.C2418T:p.N806N CELSR2:uc001dxa.4:exon1:c.C2418T:p.N806N CELSR2:NM_001408:exon1:c.C2418T:p.N806N . . 0.48666668 . . @ 73 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N806|CELSR2|mRNA|CODING|NM_001408|NM_001408.ex.1) . 0.0002 0.0002 . 0.0002 0.0002 . 0.5034 . . . . . . . . 3.157e-05 . . . 0 3.315e-05 0 0 0 7.151e-05 0 0 0 2.825e-05 0 0 0 5.52e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.33 182 ENSG00000143126 CELSR2 CELSR2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142987028 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0 7.313e-05 5.956e-05 0.0001 0 0 0.0001 0 0 0 3.231e-05 0 0.0033 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs142987028 rs142987028 1 1538 10 1/0 0,241,255 +rs116496512 1 109824503 G A - PSRC1 24472 Proline and serine rich coiled-coil 1 NM_001032291.2 -1 1745 1002 NP_001027462.1 substitution missense exon GRCh37 109824503 109824503 Chr1(GRCh37):g.109824503G>A 257 257 NM_001032291.2:c.257C>T p.Ala86Val p.Ala86Val 4 613126 180 3' 84.4007 6.67524 0.893586 7.76514 84.4007 6.67524 0.893586 7.76514 0 Cryptic Acceptor Strongly Activated 109824498 I.39 0.004741 66.2806 3.41048 0.011423 69.8262 rs116496512 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.005100 0.000000 0.003000 0.000000 0.003022 0.000467 0.001194 0.003288 0.000000 0.010110 0.002837 0.002416 0.002651 0.010110 828 11 41 33 0 311 353 62 17 273984 23554 34326 10036 18816 30762 124412 25666 6412 0.000051 0.000000 0.000000 0.000000 0.000000 0.000455 0.000000 0.000000 0.000000 7 0 0 0 0 7 0 0 0 814 11 41 33 0 297 353 62 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8578 4402 12980 20 4 24 0.00232612 0.000907853 0.00184559 0.00232612 0.000907853 0.00184559 25 transition C T C>T 0.008 2.062 A Ala GCT 0.263 V Val GTT 0.178 86 12 11 Platypus 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 65.28 0.00 Tolerated 0.12 III.64 good 7.118E-1 0.05721 255 PASS . 0.0005 . . 0.0013 . 0.0016 . . 0.003 0.0051 . . . . . 0.41509435 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.313 . @ . . . . . 1 0.959 . . 106.0 . . . 0.0009 0.0018 0.0023 0.0009 0.0018 0.0023 . -0.5409 -0.513 -0.541 c . . . . . 3.175e-03 . . . 0.0007 0.0035 0.0009 0 0.0026 0.0027 0.0029 0.0104 0.0006 0.0034 0.0009 0 0.0023 0.0030 0.0015 0.0104 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.604 . . exonic exonic exonic . . 0.693 0.0016 . . . 0.35 0.41 182 ENSG00000134222 PSRC1 PSRC1 . . . 1.000 0.747 . 136 0.00209308 64976 128 0.00213383 59986 Uncertain_significance . 0 . 0.257 . . . . . . . . . 37 . 0.316 . . 0.294 . . . 0.572 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.505 . . 0 0 0 0 0 0 . 0.144 . . 0.198 . . . . . . 0 0.632 . . . . . 0.490 . 0.481 . HET 0 rs116496512 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 XI.67 5.35E-4 . 6.III 5.XII . 0.030000 . . . Name\x3dnsv517354 0.001846 . 0.210 . . 5.XII 0.0005 0.0032 0.0012 0.0033 0 0.0025 0.0029 0.0028 0.0101 0.0003 0.0017 0.0024 0.0033 0 0.0017 0.0027 0.0020 . . 0.872 . 1.557 1.557000 . . 0.030000 . . 1.0E-255 0.060 0.216 . 0.212 0.970 . 0.434 . 0.713 1.557 0.917 0.0023 . . rs116496512 rs116496512 1 1538 10 1/0 0,250,255 +rs140395971 1 110300400 G A - EPS8L3 21297 EPS8 like 3 NM_139053.2 -1 2321 1785 NP_620641.1 substitution intron GRCh37 110300400 110300400 Chr1(GRCh37):g.110300400G>A 897+24 897+24 NM_139053.2:c.897+24C>T p.? p.? 10 10 614989 24 5' 81.4083 8.36849 0.49065 8.27591 81.4083 8.36849 0.49065 8.18421 0 rs140395971 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.008200 0.000000 0.001000 0.001400 0.001264 0.000042 0.000174 0.000000 0.000000 0.007765 0.000784 0.000039 0.000466 0.007765 348 1 6 0 0 239 98 1 3 275390 24002 34404 10100 18866 30780 125008 25792 6438 0.000029 0.000000 0.000000 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 340 1 6 0 0 231 98 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 82 transition C T C>T 0.000 -0.037 255 PASS . 0.0009 0.0028 . 0.0013 . 0.002 0.0014 . 0.001 0.0082 . . . . . 0.57894737 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . 0.1787 . . . . . . . . 1.436e-03 . . . 9.666e-05 0.0019 0.0002 0 0.0003 0.0007 0.0028 0.0081 0 0.0016 0.0002 0 0.0002 0.0006 0.0014 0.0081 . . . . . . ncRNA_intronic intronic intronic . . . 0.0020 . . . 0.22 0.11 182 ENSG00000241720 EPS8L3 EPS8L3 . . . . . . 56 0.000861857 64976 46 0.000766846 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140395971 . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 6.545e-05 0.0014 0.0001 0 0 4.485e-05 0.0008 0.0005 0.0078 0 0.0004 0.0012 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs140395971 rs140395971 1 1538 10 1/0 0,255,255 +rs567615165 1 111739668 T C - DENND2D 26192 DENN/MADD domain containing 2D NM_024901.4 -1 3296 1416 NP_079177.2 Q9H6A0 substitution intron GRCh37 111739668 111739668 Chr1(GRCh37):g.111739668T>C 504+130 504+130 NM_024901.4:c.504+130A>G p.? p.? 5 5 615111 130 5' 84.5939 VIII.53 0.957918 8.08994 84.5939 VIII.53 0.957918 8.08994 0 rs567615165 yes no Frequency/1000G 2 T 0.000200 C 1 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000129 0.000229 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000229 4 2 0 0 0 0 2 0 0 30960 8724 838 302 1622 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition A G A>G 0.000 -2.297 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.6025641 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.1504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000162777 DENND2D DENND2D . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs567615165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs72701116 1 113240577 C A - MOV10 7200 Mov10 RISC complex RNA helicase NM_001130079.2 1 3474 3012 NP_001123551.1 Q9HCE1 substitution intron GRCh37 113240577 113240577 Chr1(GRCh37):g.113240577C>A 2199-39 2199-39 NM_001130079.2:c.2199-39C>A p.? p.? 15 14 610742 -39 3' 81.5748 9.0244 0.983412 8.13367 81.5748 9.0244 0.983412 7.85838 0 113240580 -20.2941 rs72701116 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000000 0.001000 0.000000 0.011900 0.001400 0.007779 0.001623 0.005117 0.005254 0.000159 0.003645 0.011526 0.010729 0.005893 0.011526 2149 39 176 53 3 112 1452 276 38 276256 24026 34398 10088 18866 30730 125976 25724 6448 0.000109 0.000000 0.000058 0.000000 0.000000 0.000195 0.000111 0.000311 0.000000 15 0 1 0 0 3 7 4 0 2119 39 174 53 3 106 1438 268 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8520 4399 12919 80 7 87 0.00930233 0.00158874 0.00668922 0.00930233 0.00158874 0.00668922 129 transversion C A C>A 0.000 1.416 255 PASS . 0.0027 0.0028 . 0.01 . 0.0028 0.0014 . 0.012 0.001 . . . . . 0.5714286 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . 0.0016 0.0067 0.0093 0.0016 0.0067 0.0093 . 0.2541 . . . . . . . . 8.343e-03 . . . 0.0014 0.0057 0.0033 0.0004 0.0074 0.0090 0.0014 0.0035 0.0015 0.0084 0.0031 0.0003 0.0083 0.0133 0.0072 0.0035 . . . . . . intronic intronic intronic . . . 0.0028 . . . 0.18 0.17 182 ENSG00000155363 MOV10 MOV10 . . . . . . 471 0.00724883 64976 458 0.00763511 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs72701116 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006689 . . . . 3.IV 0.0012 0.0078 0.0052 0.0051 0.0002 0.0108 0.0117 0.0060 0.0036 0.0023 0.0073 0.0036 0.0099 0 0.0103 0.0105 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs72701116 rs72701116 rs72701116 1 1538 10 1/0 0,255,255 +rs373262677 1 115223010 C T - AMPD1 468 Adenosine monophosphate deaminase 1 NM_000036.2 -1 2407 2343 NP_000027.2 P23109 substitution missense exon GRCh37 115223010 115223010 Chr1(GRCh37):g.115223010C>T 736 736 NM_000036.2:c.736G>A p.Gly246Ser p.Gly246Ser 6 102770 90 3' 63.8235 1.27557 1.8e-05 0 63.8235 1.27557 1.8e-05 0 0 AMP deaminase rs373262677 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000137 0.000250 0.000726 0.000000 0.000000 0.000032 0.000047 0.000000 0.000000 0.000726 38 6 25 0 0 1 6 0 0 277240 24032 34420 10152 18870 30780 126726 25792 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 6 25 0 0 1 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4404 13004 0 2 2 0 0.000453926 0.000153775 0 0.000453926 0.000153775 165 transition G A G>A 1.000 6.339 G Gly GGT 0.162 S Ser AGT 0.149 246 13 12 C. elegans 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 93.77 II.75 Deleterious 0.04 III.23 good 6.706E-1 0.08386 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.47540984 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.904 . @ . . . . . 1 0.936 . . 61.0 . . . 0.0005 0.0002 . 0.0005 0.0002 . . 0.7998 0.728 0.800 c . . . . . 1.184e-04 . . . 0.0002 0.0001 0.0008 0 0 2.373e-05 0.0014 0 0.0002 0.0001 0.0008 0 0 5.52e-05 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.926 . . exonic exonic exonic . . 0.987 0.0002 . . . 0.54 0.5 182 ENSG00000116748 AMPD1 AMPD1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.920 0.338 . . 37 . 0.962 . . 0.951 . . . 0.892 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.828 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.405 . . . . . 0.996 . 0.975 . HET 0 rs373262677 . . . . . . . . . . . . 20.6525 2.68E-4 . 6.VII 6.VII . 0.060000 . . . Name\x3desv28734 0.000154 . 0.957 . . 6.VII 0.0002 0.0001 0.0007 0 0 0 4.476e-05 0 3.249e-05 0.0003 0.0001 0 0 0 0 6.661e-05 0 . . 0.133 . 2.890 2.890000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.272 0.577 . 0.854 . 0.403 2.890 0.871 0.0005 . . rs373262677 . 1 1538 10 1/0 0,255,255 +rs114915440 1 117122285 G C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117122285 117122285 Chr1(GRCh37):g.117122285G>C 3123 3123 NM_001542.3:c.3123C>G p.Asp1041Glu p.Asp1041Glu 10 603491 215 3' 85.7835 11.0181 0.958309 12.569 85.7835 11.0181 0.958309 12.569 0 Immunoglobulin-like Immunoglobulin subtype rs114915440 yes no Frequency 1 G 0.000000 0 0.007114 0.000447 0.021368 0.000336 0.000166 0.003273 0.003816 0.022027 0.008966 0.022027 1701 10 676 3 3 90 395 473 51 239120 22364 31636 8936 18020 27498 103504 21474 5688 0.000117 0.000000 0.000443 0.000000 0.000000 0.000000 0.000019 0.000466 0.000352 14 0 7 0 0 0 1 5 1 1122 9 474 2 3 67 258 277 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1333057|COSM1333057 Upper aerodigestive tract|Large intestine 0.000804|0.000448 1244|2231 transversion C G C>G 0.039 -0.440 D Asp GAC 0.539 E Glu GAG 0.583 1041 12 2 Chimp 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 IV.32 202 PASS . . . . . . . . . . . . . . . . 0.1632653 . . @ 24 . . 1.2.2016 0 1 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.104 . @ . . . . . 1 0.005 . . 147.0 . . . . . . . . . . -1.5567 -1.633 -1.557 c . . . . . 6.101e-03 . . . 0.0003 0.0055 0.0199 0.0004 0.0189 0.0032 0.0081 0.0037 0.0004 0.0063 0.0202 0.0003 0.0181 0.0048 0.0116 0.0037 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.151 @ . . . 0.18 0.19 182 ENSG00000143061 IGSF3 IGSF3 . . . 0.765 0.236 . 2097 0.0322735 64976 2087 0.0347915 59986 Likely_benign . 0 . 0.237 . . . . . . . . . 37 . 0.005 . . 0.462 . . . 0.042 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.065 . HET 1 rs114915440 0.011 0.014 . . . . . . . . . . . 0.012039 . 0.329 0.329 . 1.000000 . . . Name\x3dnsv482103 . . 0.013 . . . 0.0004 0.0073 0.0215 0.0003 0.0002 0.0217 0.0038 0.0084 0.0033 0.0005 0.0055 0.0157 0 0 0.0237 0.0040 0.0116 . . 0.609 . -0.471 -0.471000 . . 1.000000 . . 1.0E-202 0.003 0.159 . 0.108 0.002 . 0.027 . 0.012 -0.471 -2.409 0.011 . . rs114915440 rs114915440 1 1538 10 1/0 0,215,255 +rs75947003 1 117142700 C A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117142700 117142700 Chr1(GRCh37):g.117142700C>A 1952 1952 NM_001542.3:c.1952G>T p.Ser651Ile p.Ser651Ile 7 603491 -138 5' 95.6376 X.36 0.995297 XII.51 95.6376 X.36 0.995297 XII.51 0 Cryptic Acceptor Strongly Activated 117142693 0.00062 0.876498 0.007275 69.3338 Immunoglobulin subtype rs75947003 yes no Frequency 1 C 0.000000 0 0.000022 0.000042 0.000029 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000042 6 1 1 0 0 0 4 0 0 274992 23814 34238 10116 18728 30716 125322 25618 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4142197|COSM4142197 Thyroid|Large intestine 0.002677|0.001345 747|2231 transversion G T G>T 1.000 2.062 S Ser AGC 0.243 I Ile ATC 0.481 651 12 12 Zebrafish -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C65 0.00 141.80 Deleterious 0 III.67 230 PASS . . . . . . . . . . . . . . . . 0.24210526 . . @ 46 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.658 . @ . . . . . 1 0.719 . . 190.0 . . . . . . . . . . 0.3319 0.353 0.332 c . . . . . 1.847e-03 . . . 0.0025 0.0015 0.0013 0.0023 0.0019 0.0016 0.0014 0.0002 0.0026 0.0016 0.0014 0.0017 0.0019 0.0018 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.439 @ . . . 0.4 0.36 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.405 . . . . . . . Uncertain_significance . 0 . 0.347 . . . . T 0.343 0.014 . . 37 . 0.128 . . 0.025 . . . 0.510 0.503 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.183 . . . . . 0.441 . 0.850 . HET 0.17 rs75947003 . . . . . . . . . . . . X.54 . . 4.VIII III.89 . 0.090000 . . . . . . 0.580 . . III.89 6.625e-05 2.458e-05 2.994e-05 0 0 0 3.625e-05 0 0 0 0 0 0 0 0 0 0 . . 0.730 . 1.231 1.231000 . . 0.090000 . . 1.0E-230 1.000 0.715 . 0.750 1.000 . 0.686 . 0.345 1.231 0.871 . . . rs75947003 rs112943111 1 1538 10 1/0 0,211,255 +rs75067537 1 117142736 A G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117142736 117142736 Chr1(GRCh37):g.117142736A>G 1916 1916 NM_001542.3:c.1916T>C p.Ile639Thr p.Ile639Thr 7 603491 -174 5' 95.6376 X.36 0.995297 XII.51 95.6376 X.36 0.995297 XII.51 0 Immunoglobulin subtype rs75067537 yes no Frequency/1000G 2 A 0.000000 0 0.001997 0.002300 0.003100 0.001000 0.001000 0.002900 0.000366 0.000629 0.001077 0.000000 0.000479 0.000261 0.000214 0.000000 0.000776 0.001077 101 15 37 0 9 8 27 0 5 275898 23856 34344 10138 18778 30648 126046 25642 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 15 37 0 9 8 27 0 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1491688|COSM1491688|COSM1491688|COSM1491688|COSM1491688 Thyroid|Large intestine|Kidney|Haematopoietic and lymphoid tissue|Central nervous system 0.005355|0.000448|0.000578|0.000283|0.002079 747|2231|1729|3531|2405 transition T C T>C 1.000 3.918 I Ile ATC 0.481 T Thr ACC 0.361 639 12 10 Chicken -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C25 28.68 69.84 Deleterious 0.01 III.67 242 PASS . . . . . 0.0023 0.002 0.0029 0.001 0.001 0.0031 . . . . . 0.27906978 . . @ 60 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.696 . . 215.0 . . . . . . . . . . 0.0184 0.187 0.018 c . . . . . 5.919e-04 . . . 0.0010 0.0006 0.0007 0.0007 0.0003 0.0004 0.0042 0.0005 0.0011 0.0005 0.0007 0.0006 0.0002 0.0004 0.0029 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.152 . . exonic exonic exonic . . 0.610 @ . . . 0.45 0.38 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . 902 0.013882 64976 896 0.0149368 59986 Uncertain_significance . 0 . 0.523 . . . . T 0.248 0.009 . . 37 . 0.064 . . 0.176 . . . 0.387 0.482 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.659 . . 0 0 0 0 0 0 . 0.308 . . 0.333 . . . . . . 0 0.721 . . . . . 0.542 . 0.658 . HET 0.04 rs138851517 . . . . . . . . . . . . XII.58 . . 4.VIII 4.VIII . 0.080000 . . . . . . 0.800 . . 4.VIII 0.0004 0.0004 0.0011 0 0.0005 0 0.0002 0.0009 0.0003 0.0010 0.0004 0.0012 0 0.0006 0 0 0 . . 0.730 . 2.001 2.001000 . . 0.080000 . . 1.0E-242 1.000 0.715 . 0.697 1.000 . 0.910 . 0.851 2.001 1.062 . . . rs75067537 rs138851517 1 1538 10 1/0 0,209,255 +rs61786568 1 117142855 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117142855 117142855 Chr1(GRCh37):g.117142855C>T 1797 1797 NM_001542.3:c.1797G>A p.Ser599= p.Ser599Ser 7 603491 113 3' 90.6407 XI.37 0.980641 X.65 90.6407 XI.37 0.980641 X.65 0 New Acceptor Site 117142853 4.69218 0.121915 69.7587 Immunoglobulin subtype rs61786568 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000105 0.000542 0.000087 0.000000 0.000106 0.000097 0.000063 0.000000 0.000000 0.000542 29 13 3 0 2 3 8 0 0 277002 23998 34418 10144 18868 30770 126584 25760 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 13 3 0 2 3 8 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4401 13001 0 5 5 0 0.00113482 0.000384438 0 0.00113482 0.000384438 34 transition G A G>A 0.339 -2.135 S Ser TCG 0.056 S Ser TCA 0.148 599 238 PASS . . . . . 0.003 0.0008 . . . . . . . . . 0.26600984 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 203.0 . . . 0.0011 0.0004 . 0.0011 0.0004 . . -0.1306 . . . . . . . . 2.762e-04 . . . 0.0018 0.0003 8.709e-05 0.0004 0 9.619e-05 0 0.0003 0.0018 0.0003 8.981e-05 0.0001 0 0.0001 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.34 0.26 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61786568 0.098 0.065 . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 0.0007 0.0001 8.934e-05 0 0.0001 0 7.17e-05 0 9.75e-05 0.0003 9.689e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . 0.098 rs61786568 rs61786568 rs61786568 rs61786568 1 1538 10 1/0 0,211,255 +rs61730489 1 117142868 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution stop gain exon GRCh37 117142868 117142868 Chr1(GRCh37):g.117142868C>T 1784 1784 NM_001542.3:c.1784G>A p.Trp595* p.Trp595* 7 603491 100 3' 90.6407 XI.37 0.980641 X.65 90.6407 XI.37 0.980641 X.65 0 New Acceptor Site 117142866 4.36042 0.796346 71.9643 Immunoglobulin subtype rs61730489 yes no Frequency 1 C 0.000000 0 0.000011 0.000042 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000042 3 1 0 0 0 0 2 0 0 277118 24034 34418 10148 18866 30780 126636 25772 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1560066|COSM1560066 Large intestine|Central nervous system 0.000448|0.002495 2231|2405 transition G A G>A 0.992 3.030 W Trp TGG 1.000 * * TAG 0.234 595 219 PASS . . . . . . . . . . . . . . . . 0.20994475 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.976 . @ . . . . . 0 0.818 . . 181.0 . . . . . . . . . . 0.8358 0.619 0.836 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.557 @ . . . 0.5 0.41 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Likely_pathogenic . 0 . 0.415 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.702 . . . HET 0.03 rs61730489 . . . . . . . . . . . . 14.8995 . . IV.57 IV.57 . 0.030000 . . . . . . 0.536 . . IV.57 0 4.063e-06 0 0 0 0 8.958e-06 0 0 0.0001 6.457e-05 0 0 0 0 6.663e-05 0 . . 0.924 . 2.354 2.354000 . . 0.030000 . . 1.0E-219 1.000 0.715 . 0.161 0.661 . 0.583 . 0.345 2.354 0.871 . . . rs61730489 rs61730489 1 1538 10 1/0 0,211,255 +rs78806598 1 117142869 A G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117142869 117142869 Chr1(GRCh37):g.117142869A>G 1783 1783 NM_001542.3:c.1783T>C p.Trp595Arg p.Trp595Arg 7 603491 99 3' 90.6407 XI.37 0.980641 X.65 90.6407 XI.37 0.980641 X.65 0 Immunoglobulin subtype rs78806598 yes no Frequency 1 A 0.000000 0 0.000032 0.000042 0.000000 0.000000 0.000053 0.000162 0.000016 0.000000 0.000000 0.000162 9 1 0 0 1 5 2 0 0 277106 24028 34418 10146 18868 30778 126634 25776 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 1 5 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 38 transition T C T>C 0.827 -0.037 W Trp TGG 1.000 R Arg CGG 0.207 595 12 3 Chicken -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 173.78 0.00 Tolerated 0.98 III.67 235 PASS . . . . . . . . . . . . . . . . 0.25824177 . . @ 47 . . 1.2.2016 0 1 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.015 . . 182.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -1.3621 -1.257 -1.362 c . . . . . 2.368e-05 . . . 9.843e-05 3.334e-05 0 0 0 0 0 0.0001 0.0001 2.845e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.113 . . exonic exonic exonic . . 0.088 @ . . . 0.33 0.25 182 ENSG00000143061 IGSF3 IGSF3 . . . 0.967 0.289 . . . . . . . Likely_benign . 0 . 0.415 . . . . T 0.062 0.003 . . 37 . 0.011 . . 0.439 . . . 0.097 0.223 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.014 . . 0 0 0 0 0 0 . 0.026 . . 0.112 . . . . . . 0 0.027 . . . . . 0.053 . 0.234 . HET 0.88 rs78806598 0.022 0.014 . . . . . . . . . . II.26 0.0 . IV.57 -1.26 . 0.530000 . . . . 0.000077 . 0.221 . . . 0 2.844e-05 0 0 5.798e-05 0 8.958e-06 0 0.0002 0.0001 6.459e-05 0 0 0 0 6.665e-05 0 . . 0.924 . -0.095 -0.095000 . . 0.530000 . . 1.0E-235 0.999 0.424 . 0.111 0.559 . 0.293 . 0.021 -0.095 -1.310 0.022 . . rs78806598 rs78806598 1 1538 10 1/0 0,215,255 +. 1 117142977 A G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117142977 117142977 Chr1(GRCh37):g.117142977A>G 1685-10 1685-10 NM_001542.3:c.1685-10T>C p.? p.? 7 6 603491 -10 3' 90.6407 XI.37 0.980641 X.65 87.358 XI.54 0.957074 XI.51 -0.00461037 0.000163 0.000209 0.000088 0.000105 0.000159 0.000743 0.000065 0.000040 0.000158 0.000743 44 5 3 1 3 22 8 1 1 270550 23880 34086 9556 18812 29626 123100 25148 6342 0.000007 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 42 5 3 1 3 20 8 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM6200149|COSM6200149 Stomach|Liver 0.001101|0.000422 908|2371 transition T C T>C 0.283 0.932 188 PASS . . . . . . . . . . . . . . . . 0.12987013 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.6071 . . . . . . . . 4.028e-04 . . . 0.0003 0.0005 0.0003 0.0005 0.0003 0.0003 0 0.0018 0.0002 0.0005 0.0003 0.0005 0.0002 0.0002 0 0.0018 . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.36 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs138030652 . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . 0.0001 0.0002 9.023e-05 0.0001 0.0001 4.618e-05 7.399e-05 0.0002 0.0007 0.0003 0.0001 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs79159362 rs138030652 1 1538 10 1/0 0,210,255 +rs61786577 1 117146504 G A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117146504 117146504 Chr1(GRCh37):g.117146504G>A 1426 1426 NM_001542.3:c.1426C>T p.Arg476Cys p.Arg476Cys 6 603491 144 3' 76.2747 X.68 0.990373 XII.18 76.2747 X.68 0.990373 XII.18 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs61786577 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245160 15068 33580 9802 17238 30782 110956 22270 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 70 Exomes COSM4142201|COSM4142201 Thyroid|Large intestine 0.004016|0.000896 747|2231 transition C T C>T 1.000 4.564 R Arg CGC 0.190 C Cys TGC 0.552 476 12 10 Chicken -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 116.42 150.23 Deleterious 0.01 III.67 195 PASS . . . . . . . . . . . . . . . . 0.14718615 . . @ 34 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.952 . @ . . . . . 1 0.999 . . 231.0 . . . . . . . . . . 0.5856 0.609 0.586 c . . . . . 7.893e-06 . . . 0 1.124e-05 0 0 0 2.444e-05 0 0 0 9.534e-06 0 0 0 1.869e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.658 . . exonic exonic exonic . . 0.737 @ . . . 0.45 0.45 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . D 0.746 0.085 . . 37 . 0.615 . . 0.655 . . . 0.547 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.599 . . . . . 0.655 . 0.834 . LowAF 0 rs61786577 . . . . . . . . . . . . 14.2601 . . V.27 V.27 . 0.020000 . . . . . . 0.696 . . V.27 0 8.158e-06 0 0 0 0 1.803e-05 0 0 . . . . . . . . . . 0.498 . 2.735 2.735000 . . 0.020000 . . 9.999999999999999E-196 1.000 0.715 . 0.888 0.997 . 0.565 . 0.674 2.735 0.917 . rs61786577 rs61786577 rs61786577 rs61786577 1 1538 10 1/0 0,194,255 +rs61786578 1 117146563 G A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117146563 117146563 Chr1(GRCh37):g.117146563G>A 1367 1367 NM_001542.3:c.1367C>T p.Thr456Met p.Thr456Met 6 603491 85 3' 76.2747 X.68 0.990373 XII.18 76.2747 X.68 0.990373 XII.18 0 Cryptic Acceptor Strongly Activated 117146557 III.52 0.073284 76.3414 3.95072 0.153973 78.4446 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs61786578 yes no Frequency 1 G 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000032 0.000045 0.000000 0.000000 0.000045 6 0 0 0 0 1 5 0 0 244994 15048 33578 9806 17222 30780 110978 22116 5466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM4142205|COSM4142205|COSM4142205 Thyroid|Large intestine|Bone 0.006693|0.000896|0.001757 747|2231|569 transition C T C>T 0.984 4.564 T Thr ACG 0.116 M Met ATG 1.000 456 12 9 Cow -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 154.81 0.00 Deleterious 0.03 III.67 199 PASS . . . . . . . . . . . . . . . . 0.15714286 . . @ 33 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.818 . . 210.0 . . . . . . . . . . 0.0592 0.212 0.059 c . . . . . 1.579e-05 . . . 0 2.267e-05 0 0 0 4.95e-05 0 0 0 9.57e-06 0 0 0 1.877e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.737 @ . . . 0.45 0.43 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.432 . . . . T 0.273 0.010 . . 37 . 0.010 . . 0.698 . . . 0.351 0.441 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.305 . . 0 0 0 0 0 0 . 0.449 . . 0.390 . . . . . . 0 0.393 . . . . . 0.655 . 0.763 . HET 0.05 rs61786578 . . . . . . . . . . . . 14.2601 . . V.27 V.27 . 0.180000 . . . . . . 0.581 . . V.27 0 2.449e-05 0 0 0 0 4.505e-05 0 3.249e-05 . . . . . . . . . . 0.498 . 2.735 2.735000 . . 0.180000 . . 1.0E-199 0.998 0.411 . 0.300 0.665 . 0.471 . 0.219 2.735 0.917 . rs61786578 rs61786578 rs61786578 rs61786578 1 1538 10 1/0 0,199,255 +rs61786579 1 117146571 A G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117146571 117146571 Chr1(GRCh37):g.117146571A>G 1359 1359 NM_001542.3:c.1359T>C p.Ser453= p.Ser453Ser 6 603491 77 3' 76.2747 X.68 0.990373 XII.18 76.2747 X.68 0.990373 XII.43 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs61786579 no no 0 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 244802 15026 33576 9806 17212 30780 110888 22052 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM5457959 Large intestine 0.000896 2231 transition T C T>C 0.528 -0.521 S Ser AGT 0.149 S Ser AGC 0.243 453 206 PASS . . . . . . . . . . . . . . . . 0.17486338 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 183.0 . . . . . . . . . . 0.6212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.33 0.29 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61786579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.085e-06 0 0 0 0 9.018e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs61786579 rs61786579 rs61786579 rs61786579 1 1538 10 1/0 0,207,255 +rs532709767 1 117146592 C G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117146592 117146592 Chr1(GRCh37):g.117146592C>G 1338 1338 NM_001542.3:c.1338G>C p.Glu446Asp p.Glu446Asp 6 603491 56 3' 76.2747 X.68 0.990373 XII.18 76.2747 X.68 0.990373 13.1571 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs532709767 no no 0 C 0.000000 0 COSM4142207|COSM4142207|COSM4142207 Thyroid|Large intestine|Haematopoietic and lymphoid tissue 0.001339|0.000448|0.000283 747|2231|3531 transversion G C G>C 0.890 0.609 E Glu GAG 0.583 D Asp GAC 0.539 446 12 10 Zebrafish 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 44.60 0.00 Tolerated 0.32 III.67 206 PASS . . . . . . . . . . . . . . . . 0.1734104 . . @ 30 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.221 . @ . . . . . 1 0.574 . . 173.0 . . . . . . . . . . -0.3757 -0.223 -0.376 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.354 @ . . . . . . ENSG00000143061 IGSF3 IGSF3 . . . 0.933 0.271 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.167 0.006 . . 37 . 0.011 . . 0.498 . . . 0.145 0.426 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.397 . . 0 0 0 0 0 0 . 0.112 . . 0.158 . . . . . . 0 0.141 . . . . . 0.503 . 0.152 . HET 0.16 rs532709767 . . . . . . . . . . . . XI.28 . . 5.IX III.17 . 0.270000 . . . . . . 0.364 . . III.17 . . . . . . . . . . . . . . . . . . . 0.498 . 0.694 0.694000 . . 0.270000 . . 1.0E-206 0.997 0.399 . 0.413 0.992 . 0.255 . 0.362 0.694 0.871 . . . . . 1 1538 10 1/0 0,209,255 +rs61786589 1 117150736 C G - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117150736 117150736 Chr1(GRCh37):g.117150736C>G 1050 1050 NM_001542.3:c.1050G>C p.Lys350Asn p.Lys350Asn 4 603491 -173 5' 74.8217 9.13691 0.930621 4.08131 74.8217 9.13691 0.930621 4.08131 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs61786589 no no 0 C 0.000000 0 0.000008 0.000000 0.000030 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 2 0 1 0 0 1 0 0 0 245948 15304 33582 9848 17248 30780 111410 22296 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 78 Exomes COSM4142213|COSM4142213 Thyroid|Large intestine 0.008032|0.000896 747|2231 transversion G C G>C 0.031 -1.732 K Lys AAG 0.575 N Asn AAC 0.536 350 12 8 Chicken 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 82.71 31.02 Tolerated 0.09 III.67 184 PASS . . . . . . . . . . . . . . . . 0.12169312 . . @ 23 . . 1.2.2016 0 1 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.172 . . 189.0 . . . . . . . . . . -1.6705 -1.692 -1.670 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.665 . . exonic exonic exonic . . 0.015 @ . . . 0.41 0.25 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.500 . . . . . . . Likely_benign . 0 . 0.457 . . . . T 0.470 0.024 . . 37 . 0.281 . . 0.010 . . . 0.181 0.263 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.336 . . 0 0 0 0 0 0 . 0.165 . . 0.190 . . . . . . 0 0.518 . . . . . 0.966 . 0.144 . LowAF 0.08 rs61786589 . . . . . . . . . . . . 19.8322 . . IV.67 -6.95 . 0.100000 . . . . . . 0.114 . . . 0 8.132e-06 2.978e-05 0 0 0 0 0 3.249e-05 . . . . . . . . . . 0.983 . -1.436 -1.436000 . . 0.100000 . . 9.999999999999999E-185 0.109 0.228 . 0.334 0.992 . 0.051 . 0.010 -1.436 -0.771 . rs61786589 rs61786589 rs61786589 rs140699309 1 1538 10 1/0 0,200,255 +rs150982249 1 117150928 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117150928 117150928 Chr1(GRCh37):g.117150928C>T 858 858 NM_001542.3:c.858G>A p.Glu286= p.Glu286Glu 4 603491 26 3' 86.6768 8.78494 0.869087 X.41 86.6768 8.78494 0.869087 X.83 0 Cryptic Acceptor Strongly Activated 117150923 0.002019 1.62702 0.002439 64.8251 Immunoglobulin-like rs150982249 no no 0 T 0.000000 0 COSM3930289|COSM3930289 Urinary tract|Thyroid 0.001488|0.005355 672|747 transition G A G>A 0.961 -0.521 E Glu GAG 0.583 E Glu GAA 0.417 286 249 PASS . . . . . . . . . . . . . . . . 0.30327868 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.2406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.24 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150982249 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.011 . . rs150982249 rs150982249 1 1538 10 1/0 0,237,255 +rs115837117 1 117150933 G A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117150933 117150933 Chr1(GRCh37):g.117150933G>A 853 853 NM_001542.3:c.853C>T p.Leu285= p.Leu285Leu 4 603491 21 3' 86.6768 8.78494 0.869087 X.41 86.6768 8.78494 0.869087 X.72 0 Immunoglobulin-like rs115837117 no no 0 G 0.000000 0 COSM3930291|COSM3930291 Urinary tract|Thyroid 0.001488|0.002677 672|747 transition C T C>T 1.000 1.416 L Leu CTG 0.404 L Leu TTG 0.127 285 254 PASS . . . . . . . . . . . . . . . . 0.31967214 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . I.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.41 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115837117 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . III.75 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.011 . . rs115837117 rs115837117 1 1538 10 1/0 0,239,255 +rs79107296 1 117150966 G T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117150966 117150966 Chr1(GRCh37):g.117150966G>T 833-13 833-13 NM_001542.3:c.833-13C>A p.? p.? 4 3 603491 -13 3' 86.6768 8.78494 0.869087 X.41 84.1102 7.77105 0.758981 X.74 -0.0905717 117150967 -9.1738 rs79107296 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.360 244 PASS . . . . . . . . . . . . . . . . 0.2888889 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . -0.1636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.25 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79107296 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . 0.011 . . rs79107296 rs79107296 1 1538 10 1/0 0,249,255 +rs201074598 1 117156326 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117156326 117156326 Chr1(GRCh37):g.117156326C>T 832+61 832+61 NM_001542.3:c.832+61G>A p.? p.? 3 3 603491 61 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.17725 0 rs201074598 no no 0 C 0.000000 0 transition G A G>A 0.000 -0.198 224 PASS . . . . . . . . . . . . . . . . 0.22627737 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 137.0 . . . . . . . . . . 0.0104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.24 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201074598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs201074598 rs201074598 1 1538 10 1/0 0,223,255 +rs202116033 1 117156333 T C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117156333 117156333 Chr1(GRCh37):g.117156333T>C 832+54 832+54 NM_001542.3:c.832+54A>G p.? p.? 3 3 603491 54 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.44028 0 rs202116033 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.279 230 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.0082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.24 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202116033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs202116033 rs202116033 1 1538 10 1/0 0,222,255 +rs200526371 1 117156340 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117156340 117156340 Chr1(GRCh37):g.117156340C>T 832+47 832+47 NM_001542.3:c.832+47G>A p.? p.? 3 3 603491 47 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 5.86956 0 New Acceptor Site 117156338 0.31499 0.001987 62.6578 rs200526371 no no 0 C 0.000000 0 transition G A G>A 0.024 0.690 235 PASS . . . . . . . . . . . . . . . . 0.25786164 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . . . . . . . . . 0.1377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.19 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200526371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs200526371 rs200526371 1 1538 10 1/0 0,220,255 +rs61786651 1 117156459 C T - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117156459 117156459 Chr1(GRCh37):g.117156459C>T 760 760 NM_001542.3:c.760G>A p.Asp254Asn p.Asp254Asn 3 603491 -73 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.19792 0 Immunoglobulin subtype rs61786651 no no 0 C 0.000000 0 COSM4142217|COSM4142217 Thyroid|Large intestine 0.006693|0.000448 747|2231 transition G A G>A 1.000 4.725 D Asp GAT 0.461 N Asn AAT 0.464 254 12 12 Zebrafish 2 1 2 I.38 I.33 13 11.VI 54 56 23 C15 0.00 23.I Deleterious 0 III.67 247 PASS . . . . . . . . . . . . . . . . 0.2961165 . . @ 61 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.920 . @ . . . . . 1 0.983 . . 206.0 . . . . . . . . . . 0.7382 0.705 0.738 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.237 . . exonic exonic exonic . . 0.603 @ . . . 0.64 0.42 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.642 0.050 . . 37 . 0.401 . . 0.295 . . . 0.897 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.614 . . . . . 0.738 . 0.215 . HET 0.01 rs61786651 . . . . . . . . . . . . 15.3267 . . IV.77 IV.77 . 0.010000 . . . . . . 0.760 . . IV.77 . . . . . . . . . . . . . . . . . . . 0.609 . 2.470 2.470000 . . 0.010000 . . 1.0E-247 1.000 0.715 . 0.604 0.989 . 0.812 . 0.439 2.470 0.871 . rs61786651 rs61786651 rs61786651 rs61786651 1 1538 10 1/0 0,213,255 +rs61786652 1 117156490 T C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution synonymous exon GRCh37 117156490 117156490 Chr1(GRCh37):g.117156490T>C 729 729 NM_001542.3:c.729A>G p.Glu243= p.Glu243Glu 3 603491 -104 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.29854 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin V-set, subgroup rs61786652 yes no Frequency 1 T 0.000000 0 0.000152 0.000166 0.000000 0.000000 0.000000 0.000000 0.000301 0.000000 0.000000 0.000301 42 4 0 0 0 0 38 0 0 276846 24030 34416 10146 18862 30782 126362 25788 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 4 0 0 0 0 38 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5482775 Large intestine 0.000448 2231 transition A G A>G 1.000 1.416 E Glu GAA 0.417 E Glu GAG 0.583 243 253 PASS . . . . . . . . . . . . . . . . 0.315508 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . I.06 . . . . . . . . 1.973e-04 . . . 0 0.0001 8.675e-05 0 0 0.0003 0 0 0 0.0002 8.946e-05 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.59 0.34 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . 741 0.0114042 64976 741 0.0123529 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61786652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.91 0 0.0001 0 0 0 0 0.0003 0 0 0.0005 0.0004 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs61786652 rs61786652 rs61786652 rs61786652 1 1538 10 1/0 0,219,255 +rs143106517 1 117156584 T C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117156584 117156584 Chr1(GRCh37):g.117156584T>C 635 635 NM_001542.3:c.635A>G p.Gln212Arg p.Gln212Arg 3 603491 -198 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.29854 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin V-set, subgroup rs143106517 yes no Frequency 1 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245932 15294 33582 9850 17246 30782 111396 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes COSM4142219|COSM4142219 Thyroid|Large intestine 0.005355|0.000896 747|2231 transition A G A>G 1.000 2.546 Q Gln CAG 0.744 R Arg CGG 0.207 212 12 12 Zebrafish 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C35 0.00 42.81 Deleterious 0 III.67 191 PASS . . . . . . . . . . . . . . . . 0.13836478 . . @ 22 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.406 . @ . . . . . 1 0.863 . . 159.0 . . . . . . . . . . 0.0681 0.132 0.068 c . . . . . 7.893e-06 . . . 0 1.108e-05 0 0 0 2.392e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.643 . . exonic exonic exonic . . 0.419 @ . . . 0.55 0.39 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.514 0.029 . . 37 . 0.459 . . 0.491 . . . 0.586 0.537 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.343 . . 0.481 . . . . . . 0 0.259 . . . . . 0.353 . 0.519 . LowAF 0 rs143106517 . . . . . . . . . . . . 9.0413 . . 4.IX III.74 . 0.140000 . . . . . . 0.600 . . III.74 0 4.066e-06 0 0 0 0 8.977e-06 0 0 . . . . . . . . . . 0.609 . 0.854 0.854000 . . 0.140000 . . 1.0E-191 1.000 0.715 . 0.888 1.000 . 0.622 . 0.756 0.854 0.991 . . . rs143106517 rs143106517 1 1538 10 1/0 0,210,255 +rs139013364 1 117156585 G A - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution stop gain exon GRCh37 117156585 117156585 Chr1(GRCh37):g.117156585G>A 634 634 NM_001542.3:c.634C>T p.Gln212* p.Gln212* 3 603491 -199 5' 81.6064 6.60256 0.866556 6.29854 81.6064 6.60256 0.866556 6.29854 0 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin V-set, subgroup rs139013364 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245914 15292 33582 9850 17242 30782 111384 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes COSM4142221|COSM4142221 Thyroid|Large intestine 0.004016|0.000896 747|2231 transition C T C>T 1.000 4.806 Q Gln CAG 0.744 * * TAG 0.234 212 189 PASS . . . . . . . . . . . . . . . . 0.1329114 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.973 . @ . . . . . 0 0.924 . . 158.0 . . . . . . . . . . 1.0641 0.896 1.064 c . . . . . 7.893e-06 . . . 0 1.108e-05 0 0 0 2.391e-05 0 0 . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.635 @ . . . 0.58 0.43 182 ENSG00000143061 IGSF3 IGSF3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.764 . . . LowAF 0.08 rs139013364 . . . . . . . . . . . . 15.6113 . . 4.IX 4.IX . 0.230000 . . . . . . 0.775 . . 4.IX 0 4.066e-06 0 0 0 0 8.978e-06 0 0 . . . . . . . . . . 0.609 . 2.539 2.539000 . . 0.230000 . . 1.0E-189 1.000 0.715 . 0.750 1.000 . 0.844 . 0.661 2.539 0.917 . . . rs139013364 rs139013364 1 1538 10 1/0 0,210,255 +rs547741844 1 117156600 T C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution missense exon GRCh37 117156600 117156600 Chr1(GRCh37):g.117156600T>C 619 619 NM_001542.3:c.619A>G p.Ser207Gly p.Ser207Gly 3 603491 198 3' 89.2239 5.92996 0.450434 8.73907 89.2239 5.92996 0.450434 8.73907 0 Cryptic Acceptor Strongly Activated 117156595 3.73138 0.05442 5.39877 0.048153 78.7897 Immunoglobulin V-set Immunoglobulin-like Immunoglobulin subtype Immunoglobulin V-set, subgroup rs547741844 yes no Frequency 1 T 0.000000 0 0.000012 0.000065 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000065 3 1 0 0 0 0 2 0 0 246022 15300 33582 9850 17248 30782 111480 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes COSM1600613|COSM1600613|COSM1600613|COSM1600613 Thyroid|Liver|Large intestine|Haematopoietic and lymphoid tissue 0.002677|0.000844|0.001793|0.000283 747|2371|2231|3531 transition A G A>G 1.000 1.335 S Ser AGC 0.243 G Gly GGC 0.342 207 12 9 Cow 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 55.27 0.00 Tolerated 0.89 III.67 186 PASS . . . . . . . . . . . . . . . . 0.12676056 . . @ 18 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 1 0.012 . . 142.0 . . . . . . . . . . -0.9312 -0.685 -0.931 c . . . . . 1.579e-05 . . . 9.679e-05 2.209e-05 0 0 0 2.381e-05 0 0 0.0001 9.427e-06 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.162 . . exonic exonic exonic . . 0.311 @ . . . . . . ENSG00000143061 IGSF3 IGSF3 . . . 0.994 0.335 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.180 0.007 . . 37 . 0.011 . . 0.472 . . . 0.003 0.337 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.010 . . . . . 0.209 . 0.143 . LowAF 1 rs547741844 . 0.007 . . . . . . . . . . VI.08 . . 5.II II.73 . 1.000000 . . . . . . 0.320 . . II.73 6.536e-05 1.219e-05 0 0 0 0 1.794e-05 0 0 . . . . . . . . . . 0.609 . 0.407 0.407000 . . 1.000000 . . 1.0E-186 1.000 0.715 . 0.523 1.000 . 0.546 . 0.099 0.407 0.991 . . . . . 1 1538 10 1/0 0,214,255 +rs61786655 1 117158690 G C - IGSF3 5950 Immunoglobulin superfamily, member 3 NM_001542.3 -1 7189 3645 NP_001533.2 substitution intron GRCh37 117158690 117158690 Chr1(GRCh37):g.117158690G>C 421+12 421+12 NM_001542.3:c.421+12C>G p.? p.? 2 2 603491 12 5' 81.8924 9.08182 0.982295 0 81.8924 9.08182 0.982295 0 0 New Donor Site 117158691 2.56719 0.048907 72.4613 rs61786655 no no 0 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 228894 14994 31616 8132 17080 26830 103998 21182 5062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes transversion C G C>G 0.000 -0.602 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.0105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.32 182 ENSG00000143061 IGSF3 IGSF3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs61786655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.369e-06 0 0 0 0 9.616e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs61786655 rs61786655 rs61786655 rs61786655 1 1538 10 1/0 0,245,255 +. 1 119964748 T C - HSD3B2 5218 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 NM_000198.3 1 1710 1119 NP_000189.1 P26439 substitution synonymous exon GRCh37 119964748 119964748 Chr1(GRCh37):g.119964748T>C 624 624 NM_000198.3:c.624T>C p.Asn208= p.Asn208Asn 4 613890 317 3' 84.018 8.64724 0.902857 8.23827 84.018 8.64724 0.902857 8.23827 0 3-beta hydroxysteroid dehydrogenase/isomerase NAD-dependent epimerase/dehydratase Male sterility, NAD-binding dTDP-4-dehydrorhamnose reductase rs1040579140 yes no Frequency 1 T 0.000000 0 0.000004 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000065 1 1 0 0 0 0 0 0 0 246020 15300 33568 9842 17202 30780 111552 22300 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 93 Exomes transition T C T>C 0.000 -2.700 N Asn AAT 0.464 N Asn AAC 0.536 208 255 PASS . . . . . . . . . . . . . . . . 0.5565217 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . . . . . . . -0.3475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203859 HSD3B2 HSD3B2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.536e-05 4.065e-06 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 120612040 T TCCGCCGCCGCCG - NOTCH2 7882 Notch 2 NM_024408.3 -1 11466 7416 NP_077719.2 Q04721 duplication 5'UTR GRCh37 120612040 120612041 Chr1(GRCh37):g.120612041_120612052dup -32 -21 NM_024408.3:c.-32_-21dup p.? p.? 1 600275 -93 5' 86.8199 10.1256 0.968101 16.0233 86.8199 10.1256 0.968101 16.0233 0 CGGCGGCGGCGG 255 Pass . . . . . . . . . . . . . . . . 0.12080537 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000134250 NOTCH2 NOTCH2 ENST00000256646:c.-21_-20insCGGCGGCGGCGG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,92 +rs80167677 (chr1:142542812 T/G) 1 142542812 T G Not on a known gene +rs77960743 (chr1:142542817 A/C) 1 142542817 A C Not on a known gene +rs796276233 (chr1:142542820 G/A) 1 142542820 G A Not on a known gene +. (chr1:142542838 G/A) 1 142542838 G A Not on a known gene +rs113950138 (chr1:142542846 A/C) 1 142542846 A C Not on a known gene +rs796322917 (chr1:142542847 G/A) 1 142542847 G A Not on a known gene +rs78044540 (chr1:142542861 T/G) 1 142542861 T G Not on a known gene +rs796416486 (chr1:142542865 A/G) 1 142542865 A G Not on a known gene +rs12164691 (chr1:142542905 A/G) 1 142542905 A G Not on a known gene +rs7555663 (chr1:142542921 A/G) 1 142542921 A G Not on a known gene +rs7521801 (chr1:142542922 G/A) 1 142542922 G A Not on a known gene +rs200534630 (chr1:142813274 T/A) 1 142813274 T A Not on a known gene +. (chr1:142813302 A/G) 1 142813302 A G Not on a known gene +rs374074638 (chr1:142826248 C/T) 1 142826248 C T Not on a known gene +rs111875671 (chr1:142826252 T/A) 1 142826252 T A Not on a known gene +rs879208916 (chr1:142826303 G/A) 1 142826303 G A Not on a known gene +. (chr1:142826355 CA/C) 1 142826355 CA C Not on a known gene +rs4118755 (chr1:142826369 C/A) 1 142826369 C A Not on a known gene +rs148286076 (chr1:143210142 T/A) 1 143210142 T A Not on a known gene +rs76689679 (chr1:143210178 T/A) 1 143210178 T A Not on a known gene +rs150660353 (chr1:143210184 G/A) 1 143210184 G A Not on a known gene +rs143209660 (chr1:143210197 T/C) 1 143210197 T C Not on a known gene +rs374111110 (chr1:143210199 T/C) 1 143210199 T C Not on a known gene +rs78947755 (chr1:143210213 G/T) 1 143210213 G T Not on a known gene +rs61785385 (chr1:143210222 A/T) 1 143210222 A T Not on a known gene +rs202146885 (chr1:143223297 A/C) 1 143223297 A C Not on a known gene +. (chr1:143223322 T/C) 1 143223322 T C Not on a known gene +rs9699580 (chr1:143223350 A/T) 1 143223350 A T Not on a known gene +rs200205288 (chr1:143223423 T/A) 1 143223423 T A Not on a known gene +rs2657635 (chr1:143378085 C/T) 1 143378085 C T Not on a known gene +rs61801873 (chr1:144148910 T/G) 1 144148910 T G Not on a known gene +. (chr1:144149677 G/A) 1 144149677 G A Not on a known gene +. (chr1:144151672 G/C) 1 144151672 G C Not on a known gene +. (chr1:144152941 C/T) 1 144152941 C T Not on a known gene +. (chr1:144158075 C/T) 1 144158075 C T Not on a known gene +. (chr1:144158162 C/A) 1 144158162 C A Not on a known gene +. (chr1:144158979 G/A) 1 144158979 G A Not on a known gene +. (chr1:144160741 A/C) 1 144160741 A C Not on a known gene +. (chr1:144160743 T/C) 1 144160743 T C Not on a known gene +. (chr1:144164399 C/T) 1 144164399 C T Not on a known gene +. (chr1:144164438 T/C) 1 144164438 T C Not on a known gene +. (chr1:144164533 C/A) 1 144164533 C A Not on a known gene +. (chr1:144165288 C/A) 1 144165288 C A Not on a known gene +. (chr1:144165358 G/A) 1 144165358 G A Not on a known gene +. (chr1:144165413 A/C) 1 144165413 A C Not on a known gene +. (chr1:144165497 A/C) 1 144165497 A C Not on a known gene +. (chr1:144165499 T/C) 1 144165499 T C Not on a known gene +. (chr1:144170235 A/C) 1 144170235 A C Not on a known gene +. (chr1:144170237 T/C) 1 144170237 T C Not on a known gene +. (chr1:144173287 G/A) 1 144173287 G A Not on a known gene +. (chr1:144173342 A/C) 1 144173342 A C Not on a known gene +. (chr1:144173428 T/C) 1 144173428 T C Not on a known gene +. (chr1:144176120 T/C) 1 144176120 T C Not on a known gene +. (chr1:144182825 C/T) 1 144182825 C T Not on a known gene +. (chr1:144186601 G/C) 1 144186601 G C Not on a known gene +. (chr1:144187589 C/T) 1 144187589 C T Not on a known gene +. (chr1:144188519 C/A) 1 144188519 C A Not on a known gene +. (chr1:144193112 C/A) 1 144193112 C A Not on a known gene +. (chr1:144194086 A/C) 1 144194086 A C Not on a known gene +rs202159209 (chr1:144194088 T/C) 1 144194088 T C Not on a known gene +rs782687822 (chr1:144197105 C/T) 1 144197105 C T Not on a known gene +. (chr1:144198637 C/A) 1 144198637 C A Not on a known gene +. (chr1:144198707 G/A) 1 144198707 G A Not on a known gene +. (chr1:144198762 A/C) 1 144198762 A C Not on a known gene +. (chr1:144198846 A/C) 1 144198846 A C Not on a known gene +. (chr1:144198848 T/C) 1 144198848 T C Not on a known gene +. (chr1:144201947 A/C) 1 144201947 A C Not on a known gene +. (chr1:144202031 A/C) 1 144202031 A C Not on a known gene +. (chr1:144202033 T/C) 1 144202033 T C Not on a known gene +. (chr1:144205054 C/T) 1 144205054 C T Not on a known gene +. (chr1:144205976 T/A) 1 144205976 T A Not on a known gene +. (chr1:144206013 T/A) 1 144206013 T A Not on a known gene +. (chr1:144213032 G/A) 1 144213032 G A Not on a known gene +. (chr1:144216145 C/A) 1 144216145 C A Not on a known gene +. (chr1:144216215 G/A) 1 144216215 G A Not on a known gene +. (chr1:144216270 A/C) 1 144216270 A C Not on a known gene +. (chr1:144220142 C/A) 1 144220142 C A Not on a known gene +rs111940957 (chr1:144220974 G/A) 1 144220974 G A Not on a known gene +rs868986416 (chr1:144221029 A/C) 1 144221029 A C Not on a known gene +rs61802098 (chr1:144221113 A/C) 1 144221113 A C Not on a known gene +rs61802099 (chr1:144221115 T/C) 1 144221115 T C Not on a known gene +rs200241118 1 144364195 T C - PPIAL4A 24369 Peptidylprolyl isomerase A like 4A NM_001143883.3 -1 660 495 NP_001137355.1 Q9Y536 substitution 5'UTR GRCh37 144364195 144364195 Chr1(GRCh37):g.144364195T>C -24 -24 NM_001143883.3:c.-24A>G p.? p.? 1 rs200241118 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -4.718 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -1.2698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.59 0.44 182 ENSG00000255854 PPIAL4B . ENST00000540273:c.-24A>G uc001ekw.3:c.-24A>G NM_001143883:c.-24A>G\x3bNM_001135789:c.-24A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs200241118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2814239 rs2814239 rs2814239 rs200241118 1 1538 255 1.I 0,0,255 +. 1 144364250 T G - PPIAL4A 24369 Peptidylprolyl isomerase A like 4A NM_001143883.3 -1 660 495 NP_001137355.1 Q9Y536 substitution upstream GRCh37 144364250 144364250 Chr1(GRCh37):g.144364250T>G -79 -79 NM_001143883.3:c.-79A>C p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 2 0 2 0 0 34 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 502 Genomes transversion A C A>C 0.000 -1.086 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.6937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.16 182 ENSG00000231360 . NBPF20 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . . 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2814238 rs2814238 rs2814238 rs2814238 1 1538 255 1.I 0,0,255 +rs782118341 1 144619466 A G - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144619466 144619466 Chr1(GRCh37):g.144619466A>G 736+47 736+47 NR_102404.1:n.736+47A>G p.? p.? 4 4 613998 47 5' 81.9751 8.87834 0.96301 0 81.9751 8.87834 0.96301 0 0 rs782118341 yes no Frequency 1 0.000000 0 0.000947 0.003961 0.000125 0.000618 0.000165 0.000101 0.001201 0.000361 0.000170 0.003961 242 77 4 6 3 3 139 9 1 255436 19438 31900 9708 18212 29630 115744 24920 5884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242 77 4 6 3 3 139 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.521 211 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.3334 . . . . . . . . 1.186e-04 . . . 0.0003 7.914e-05 0 0 0 9.771e-05 0 0 0.0004 6.733e-05 0 0 0 7.521e-05 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.07 182 ENSG00000225241 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs782118341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.387e-05 6.872e-05 3.201e-05 0.0001 0 0 9.518e-05 0 0.0001 0.0129 0.01 0.0046 0.0194 0.0022 0.0031 0.0121 0.0013 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . rs80293356 rs182009663 1 1538 10 1/0 0,236,255 +. 1 144677314 G C - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144677314 144677314 Chr1(GRCh37):g.144677314G>C 1158+55658 1158+55658 NR_102404.1:n.1158+55658G>C p.? p.? 6 6 613998 55658 5' 73.3142 5.95993 0.947281 I.86 73.3142 5.95993 0.947281 I.86 0 0.000224 0.000000 0.000665 0.000000 0.000000 0.001083 0.000000 0.000000 0.000000 0.001083 7 0 3 0 0 4 0 0 0 31196 2704 4508 882 5542 3692 12552 454 862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 3 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 58 Exomes transversion G C G>C 1.000 0.286 201 PASS . . . . . . . . . . . . . . . . 0.1625 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . 0.9965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . . . . ENSG00000215861 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0007 0 0 0 0 0 0.0011 . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs7411539 1 144811842 C G - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144811842 144811842 Chr1(GRCh37):g.144811842C>G 1159-1900 1159-1900 NR_102404.1:n.1159-1900C>G p.? p.? 7 6 613998 -1900 3' 88.016 9.98334 0.865815 3.37098 88.016 9.98334 0.865815 3.37098 0 rs7411539 yes no Frequency 1 0.000000 0 0.001387 0.005932 0.000857 0.000529 0.002566 0.000307 0.000909 0.001584 0.001900 0.005932 345 112 28 5 42 9 105 33 11 248782 18882 32672 9446 16368 29322 115474 20828 5790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 345 112 28 5 42 9 105 33 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.043 0.609 205 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.7078 . . . . . . . . 1.931e-04 . . . 0.0002 9.927e-05 0 0 0 0.0001 0.0015 0 0.0003 8.369e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.29 0.14 182 ENSG00000168614 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 rs7411539 . . . . . . . . . . . . . . ENST00000375552 0.59 0.59 . 0.020000 . . . . . . . . . . 0.0007 0.0006 0.0007 0.0005 0.0020 5.543e-05 0.0005 0.0014 0.0003 0.0181 0.0090 0.0096 0 0.0102 0.0115 0.0044 0.0056 . . . . 0.598 0.598000 . . 0.020000 . . 1.0E-205 . . . . . . . . . 0.598 . . rs7411539 rs71230296 rs7411539 rs7411539 1 1538 10 1/0 0,255,255 +. (chr1:144814763 G/T) 1 144814763 G T Transcript NR_102404.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) NBPF8 +rs797023053 (chr1:144816621 A/G) 1 144816621 A G Transcript NR_102404.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) NBPF8 +rs200950584 1 144825790 T C - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144825790 144825790 Chr1(GRCh37):g.144825790T>C 2257+265 2257+265 NR_102404.1:n.2257+265T>C p.? p.? 15 15 613998 265 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 rs200950584 no no 0 0.000000 0 0.000815 0.002206 0.000623 0.000233 0.002698 0.000073 0.000509 0.000285 0.000640 0.002698 90 26 10 1 25 1 23 2 2 110456 11784 16060 4284 9266 13734 45186 7018 3124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 90 26 10 1 25 1 23 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.035 0.448 201 PASS . . . . . . . . . . . . . . . . 0.16363636 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . . . . . . . . . -0.7140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing intronic intronic . . . @ . . . 0.5 0.15 182 ENSG00000168614 . . ENST00000281815:exon11:c.349+2T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200950584 . . . . . . . . . . . . . . ENST00000281815 0.457 0.457 . . . . . . . . . . . . 0 0.0001 0.0005 0 0.0001 0 5.946e-05 0 7.281e-05 0.0039 0.0033 0.0030 0.0055 0.0235 0.0006 0.0018 0.0027 . . . . 0.407 0.407000 . . . . . 1.0E-201 . . . . . . . . . 0.407 . . . rs71278191 rs200950584 rs200950584 1 1538 10 1/0 0,255,255 +rs369634487 1 144825806 G C - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144825806 144825806 Chr1(GRCh37):g.144825806G>C 2257+281 2257+281 NR_102404.1:n.2257+281G>C p.? p.? 15 15 613998 281 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 144825824 7.4e-05 71.6045 0.801323 0.0001 71.6045 rs369634487 no no 0 0.000000 0 0.001196 0.003317 0.000516 0.000272 0.003734 0.000259 0.000809 0.000657 0.000674 0.003734 120 37 8 1 32 3 33 4 2 100308 11154 15512 3682 8570 11562 40772 6090 2966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 37 8 1 32 3 33 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.35555556 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.6512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.08 182 ENSG00000168614 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369634487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0004 0.0003 0.0009 0.0010 0.0002 0 0.0003 0.0054 0.0039 0.0030 0 0.0253 0.0003 0.0024 0.0026 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71242654 rs369634487 . 1 1538 10 1/0 0,255,255 +. 1 144825842 T C - NBPF8 31990 Neuroblastoma breakpoint family, member 8 NR_102404.1 1 4458 0 substitution intron GRCh37 144825842 144825842 Chr1(GRCh37):g.144825842T>C 2257+317 2257+317 NR_102404.1:n.2257+317T>C p.? p.? 15 15 613998 317 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.028 -0.602 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.4169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.1 182 ENSG00000168614 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201797121 1 145298281 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145298281 145298281 Chr1(GRCh37):g.145298281T>C 693 693 NM_001039703.4:c.693T>C p.Phe231= p.Phe231Phe 5 614000 -86 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.777623 2.13999 0 DUF1220 rs201797121 yes no Frequency 1 0.000000 0 0.000024 0.000045 0.000032 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000045 6 1 1 0 0 0 4 0 0 251258 22102 31676 9144 17720 28884 111186 24566 5980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -0.037 F Phe TTT 0.454 F Phe TTC 0.546 231 224 PASS . . . . . . . . . . . . . . . . 0.22566372 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.2823 -0.212 -0.282 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.122 @ . . . 0.46 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.084 0.160 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.084 . . . HET . rs201797121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.533e-06 3.242e-05 0 0 0 0 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . . . . . . . . 1.0E-224 0.000 0.063 . 0.182 . . 0.102 . 0.255 . . . . rs71527380 rs71527380 rs201797121 1 1538 10 1/0 0,203,255 +rs201797121 1 145298281 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution synonymous exon GRCh37 145298281 145298281 Chr1(GRCh37):g.145298281T>C 693 693 NM_001351372.1:c.693T>C p.Phe231= p.Phe231Phe 5 -86 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.777623 2.13999 0 rs201797121 yes no Frequency 1 0.000000 0 0.000024 0.000045 0.000032 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000045 6 1 1 0 0 0 4 0 0 251258 22102 31676 9144 17720 28884 111186 24566 5980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -0.037 F Phe TTT 0.454 F Phe TTC 0.546 231 224 PASS . . . . . . . . . . . . . . . . 0.22566372 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.2823 -0.212 -0.282 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.122 @ . . . 0.46 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.084 0.160 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.084 . . . HET . rs201797121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.533e-06 3.242e-05 0 0 0 0 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . . . . . . . . 1.0E-224 0.000 0.063 . 0.182 . . 0.102 . 0.255 . . . . rs71527380 rs71527380 rs201797121 1 1538 10 1/0 0,203,255 +rs201797121 1 145298281 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution synonymous exon GRCh37 145298281 145298281 Chr1(GRCh37):g.145298281T>C 693 693 NM_001277444.1:c.693T>C p.Phe231= p.Phe231Phe 6 613999 -86 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.777623 2.13999 0 rs201797121 yes no Frequency 1 0.000000 0 0.000024 0.000045 0.000032 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000045 6 1 1 0 0 0 4 0 0 251258 22102 31676 9144 17720 28884 111186 24566 5980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -0.037 F Phe TTT 0.454 F Phe TTC 0.546 231 224 PASS . . . . . . . . . . . . . . . . 0.22566372 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.2823 -0.212 -0.282 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.122 @ . . . 0.46 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.084 0.160 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.084 . . . HET . rs201797121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.533e-06 3.242e-05 0 0 0 0 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . . . . . . . . 1.0E-224 0.000 0.063 . 0.182 . . 0.102 . 0.255 . . . . rs71527380 rs71527380 rs201797121 1 1538 10 1/0 0,203,255 +rs200081155 1 145298363 C T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145298363 145298363 Chr1(GRCh37):g.145298363C>T 775 775 NM_001039703.4:c.775C>T p.Pro259Ser p.Pro259Ser 5 614000 -4 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.81636 2.20655 0.0166049 Cryptic Acceptor Weakly Activated 145298367 6.19196 0.327827 77.8462 6.44518 0.407992 77.8462 rs200081155 yes no Frequency 1 0.000000 0 0.000028 0.000098 0.000000 0.000000 0.000000 0.000043 0.000032 0.000000 0.000000 0.000098 6 2 0 0 0 1 3 0 0 216008 20326 27666 7170 15822 23510 94316 21962 5236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.020 0.932 P Pro CCA 0.274 S Ser TCA 0.148 259 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 185 PASS . . . . . . . . . . . . . . . . 0.12352941 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.112 . . 170.0 . . . . . . . . . . -0.6462 -0.855 -0.646 c . . . . . 4.143e-05 . . . 0.0005 0.0001 0 0 0 6.005e-05 0 0.0001 0.0006 7.808e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.195 @ . . . 0.53 0.58 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.159 0.176 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.017 . . 0.481 . . . 0.612 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.172 . 0.206 . LowAF 0 rs200081155 . . . . . . . . . . . . V.69 . . 1.XI 1.XI . 0.100000 . . . . . . 0.022 . . . 8.612e-05 2.698e-05 0 0 0 0 3.774e-05 0 4.254e-05 0.0001 3.257e-05 0 0 0 0 0 0 . . 0.609 . 0.940 0.940000 . . 0.100000 . . 1.0E-185 0.083 0.222 . 0.095 0.006 . 0.336 . 0.284 0.940 0.351 . rs61810898 rs61810898 rs61810898 rs200081155 1 1538 10 1.I 0,0,0 +rs200081155 1 145298363 C T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145298363 145298363 Chr1(GRCh37):g.145298363C>T 775 775 NM_001351372.1:c.775C>T p.Pro259Ser p.Pro259Ser 5 -4 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.81636 2.20655 0.0166049 Cryptic Acceptor Weakly Activated 145298367 6.19196 0.327827 77.8462 6.44518 0.407992 77.8462 rs200081155 yes no Frequency 1 0.000000 0 0.000028 0.000098 0.000000 0.000000 0.000000 0.000043 0.000032 0.000000 0.000000 0.000098 6 2 0 0 0 1 3 0 0 216008 20326 27666 7170 15822 23510 94316 21962 5236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.020 0.932 P Pro CCA 0.274 S Ser TCA 0.148 259 11 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.26 IV.32 185 PASS . . . . . . . . . . . . . . . . 0.12352941 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.112 . . 170.0 . . . . . . . . . . -0.6462 -0.855 -0.646 c . . . . . 4.143e-05 . . . 0.0005 0.0001 0 0 0 6.005e-05 0 0.0001 0.0006 7.808e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.195 @ . . . 0.53 0.58 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.159 0.176 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.017 . . 0.481 . . . 0.612 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.172 . 0.206 . LowAF 0 rs200081155 . . . . . . . . . . . . V.69 . . 1.XI 1.XI . 0.100000 . . . . . . 0.022 . . . 8.612e-05 2.698e-05 0 0 0 0 3.774e-05 0 4.254e-05 0.0001 3.257e-05 0 0 0 0 0 0 . . 0.609 . 0.940 0.940000 . . 0.100000 . . 1.0E-185 0.083 0.222 . 0.095 0.006 . 0.336 . 0.284 0.940 0.351 . rs61810898 rs61810898 rs61810898 rs200081155 1 1538 10 1.I 0,0,0 +rs200081155 1 145298363 C T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution missense exon GRCh37 145298363 145298363 Chr1(GRCh37):g.145298363C>T 775 775 NM_001277444.1:c.775C>T p.Pro259Ser p.Pro259Ser 6 613999 -4 5' 71.4448 7.13302 0.777623 2.13999 71.4448 7.13302 0.81636 2.20655 0.0166049 Cryptic Acceptor Weakly Activated 145298367 6.19196 0.327827 77.8462 6.44518 0.407992 77.8462 rs200081155 yes no Frequency 1 0.000000 0 0.000028 0.000098 0.000000 0.000000 0.000000 0.000043 0.000032 0.000000 0.000000 0.000098 6 2 0 0 0 1 3 0 0 216008 20326 27666 7170 15822 23510 94316 21962 5236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.020 0.932 P Pro CCA 0.274 S Ser TCA 0.148 259 11 2 Western lowland gorilla -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Deleterious 0 IV.32 185 PASS . . . . . . . . . . . . . . . . 0.12352941 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.112 . . 170.0 . . . . . . . . . . -0.6462 -0.855 -0.646 c . . . . . 4.143e-05 . . . 0.0005 0.0001 0 0 0 6.005e-05 0 0.0001 0.0006 7.808e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.195 @ . . . 0.53 0.58 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.159 0.176 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.017 . . 0.481 . . . 0.612 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.172 . 0.206 . LowAF 0 rs200081155 . . . . . . . . . . . . V.69 . . 1.XI 1.XI . 0.100000 . . . . . . 0.022 . . . 8.612e-05 2.698e-05 0 0 0 0 3.774e-05 0 4.254e-05 0.0001 3.257e-05 0 0 0 0 0 0 . . 0.609 . 0.940 0.940000 . . 0.100000 . . 1.0E-185 0.083 0.222 . 0.095 0.006 . 0.336 . 0.284 0.940 0.351 . rs61810898 rs61810898 rs61810898 rs200081155 1 1538 10 1.I 0,0,0 +rs201650661 1 145299894 C G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145299894 145299894 Chr1(GRCh37):g.145299894C>G 943 943 NM_001039703.4:c.943C>G p.Leu315Val p.Leu315Val 6 614000 -46 5' 73.3142 5.95993 0.947281 0.475889 73.3142 5.95993 0.947281 0.665304 0 New Donor Site 145299893 0.48099 0.003823 62.0499 rs201650661 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.000468 0.000351 0.001399 0.001480 0.000216 0.000780 0.000168 0.000039 0.001098 0.001480 128 8 48 15 4 24 21 1 7 273250 22782 34308 10138 18504 30764 124964 25414 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128 8 48 15 4 24 21 1 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 L Leu CTA 0.070 V Val GTA 0.114 315 1 1 1 0 0 4.IX 5.IX 111 84 32 219 PASS . . . . . . 0.0004 . . 0.001 0.001 . . . . . 0.21153846 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.024 . . 52.0 . . . . . . . . . . -2.0428 -2.125 -2.043 c . . . . . 2.686e-04 . . . 0.0001 0.0004 0.0010 0 0 0.0002 0 0.0007 0.0001 0.0003 0.0011 0 0 0.0002 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 0.0004 . . . 0.49 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.104 0.165 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.008 . . 0.449 . . . 0.009 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.126 . . 0.063 . . . . . . 3 . . . . . . 0.037 . 0.014 . HET 1 rs201650661 . . . . . . . . . . . . II.92 . . 1.V -0.226 . 1.000000 Q86T75-2 . . . . . 0.019 . . . 0 0.0004 0.0014 0.0015 0 0 0.0001 0.0011 0.0008 0.0011 0.0009 0.0026 0 0.0029 0.0003 0.0006 0.0011 . . 0.465 . -0.620 -0.620000 . . 1.000000 . . 1.0E-219 0.000 0.063 . 0.016 . . 0.004 . 0.005 -0.620 . . . . rs201650661 rs201650661 1 1538 10 1/0 0,255,255 +rs201650661 1 145299894 C G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145299894 145299894 Chr1(GRCh37):g.145299894C>G 943 943 NM_001351372.1:c.943C>G p.Leu315Val p.Leu315Val 6 -46 5' 73.3142 5.95993 0.947281 0.776796 73.3142 5.95993 0.947281 0.966211 0 New Donor Site 145299893 0.48099 0.003823 62.0499 rs201650661 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.000468 0.000351 0.001399 0.001480 0.000216 0.000780 0.000168 0.000039 0.001098 0.001480 128 8 48 15 4 24 21 1 7 273250 22782 34308 10138 18504 30764 124964 25414 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128 8 48 15 4 24 21 1 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 L Leu CTA 0.070 V Val GTA 0.114 315 11 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.62 IV.32 219 PASS . . . . . . 0.0004 . . 0.001 0.001 . . . . . 0.21153846 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.024 . . 52.0 . . . . . . . . . . -2.0428 -2.125 -2.043 c . . . . . 2.686e-04 . . . 0.0001 0.0004 0.0010 0 0 0.0002 0 0.0007 0.0001 0.0003 0.0011 0 0 0.0002 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 0.0004 . . . 0.49 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.104 0.165 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.008 . . 0.449 . . . 0.009 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.126 . . 0.063 . . . . . . 3 . . . . . . 0.037 . 0.014 . HET 1 rs201650661 . . . . . . . . . . . . II.92 . . 1.V -0.226 . 1.000000 Q86T75-2 . . . . . 0.019 . . . 0 0.0004 0.0014 0.0015 0 0 0.0001 0.0011 0.0008 0.0011 0.0009 0.0026 0 0.0029 0.0003 0.0006 0.0011 . . 0.465 . -0.620 -0.620000 . . 1.000000 . . 1.0E-219 0.000 0.063 . 0.016 . . 0.004 . 0.005 -0.620 . . . . rs201650661 rs201650661 1 1538 10 1/0 0,255,255 +rs201650661 1 145299894 C G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution missense exon GRCh37 145299894 145299894 Chr1(GRCh37):g.145299894C>G 943 943 NM_001277444.1:c.943C>G p.Leu315Val p.Leu315Val 7 613999 -46 5' 73.3142 5.95993 0.947281 0.776796 73.3142 5.95993 0.947281 0.966211 0 New Donor Site 145299893 0.48099 0.003823 62.0499 rs201650661 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.000468 0.000351 0.001399 0.001480 0.000216 0.000780 0.000168 0.000039 0.001098 0.001480 128 8 48 15 4 24 21 1 7 273250 22782 34308 10138 18504 30764 124964 25414 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128 8 48 15 4 24 21 1 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 L Leu CTA 0.070 V Val GTA 0.114 315 11 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.57 IV.32 219 PASS . . . . . . 0.0004 . . 0.001 0.001 . . . . . 0.21153846 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.024 . . 52.0 . . . . . . . . . . -2.0428 -2.125 -2.043 c . . . . . 2.686e-04 . . . 0.0001 0.0004 0.0010 0 0 0.0002 0 0.0007 0.0001 0.0003 0.0011 0 0 0.0002 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 0.0004 . . . 0.49 0.51 182 ENSG00000163386 NBPF10 NBPF10 . . . 0.104 0.165 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.008 . . 0.449 . . . 0.009 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.126 . . 0.063 . . . . . . 3 . . . . . . 0.037 . 0.014 . HET 1 rs201650661 . . . . . . . . . . . . II.92 . . 1.V -0.226 . 1.000000 Q86T75-2 . . . . . 0.019 . . . 0 0.0004 0.0014 0.0015 0 0 0.0001 0.0011 0.0008 0.0011 0.0009 0.0026 0 0.0029 0.0003 0.0006 0.0011 . . 0.465 . -0.620 -0.620000 . . 1.000000 . . 1.0E-219 0.000 0.063 . 0.016 . . 0.004 . 0.005 -0.620 . . . . rs201650661 rs201650661 1 1538 10 1/0 0,255,255 +rs61816398 1 145312692 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145312692 145312692 Chr1(GRCh37):g.145312692C>A 1854-642 1854-642 NM_001039703.4:c.1854-642C>A p.? p.? 14 13 614000 -642 3' 92.4426 10.0294 0.96652 XII.04 92.4426 10.0294 0.96652 XII.04 0 rs61816398 yes no Frequency 1 0.000000 0 0.000184 0.000000 0.000217 0.000000 0.000000 0.000000 0.000274 0.001650 0.000000 0.001650 9 0 2 0 0 0 5 2 0 49006 4712 9216 1208 7312 5698 18248 1212 1400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 2 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 79 Exomes transversion C A C>A 0.004 0.448 222 PASS . . . . . . . . . . . ENSG00000163386:ENST00000369338:exon11:c.C1222A:p.Q408K . . . . 0.22580644 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.059 . . 31.0 . . . . . . . . . . -0.6910 -0.924 -0.691 c . . . . . 3.281e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . NBPF10 . . . 0.014 0.126 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.014 . . 0.476 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.100 . HET 0.07 rs61816398 . . . . . . . . . . . . . . . . . . 0.100000 . . . . . . 0.027 . . . 0 0.0002 0.0002 0 0 0.0017 0.0003 0 0 . . . . . . . . . . 0.133 . 0.453 0.453000 . . 0.100000 . . 1.0E-222 0.000 0.063 . 0.016 . . 0.029 . 0.019 0.453 . . rs61816398 rs61816398 . . 1 1538 10 1/0 0,255,255 +rs61816398 1 145312692 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145312692 145312692 Chr1(GRCh37):g.145312692C>A 1853+1538 1853+1538 NM_001351372.1:c.1853+1538C>A p.? p.? 13 13 1538 5' 95.6376 X.36 0.996803 5.38359 95.6376 X.36 0.996803 5.38359 0 rs61816398 yes no Frequency 1 0.000000 0 0.000184 0.000000 0.000217 0.000000 0.000000 0.000000 0.000274 0.001650 0.000000 0.001650 9 0 2 0 0 0 5 2 0 49006 4712 9216 1208 7312 5698 18248 1212 1400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 2 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 79 Exomes transversion C A C>A 0.004 0.448 222 PASS . . . . . . . . . . . ENSG00000163386:ENST00000369338:exon11:c.C1222A:p.Q408K . . . . 0.22580644 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.059 . . 31.0 . . . . . . . . . . -0.6910 -0.924 -0.691 c . . . . . 3.281e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . NBPF10 . . . 0.014 0.126 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.014 . . 0.476 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.100 . HET 0.07 rs61816398 . . . . . . . . . . . . . . . . . . 0.100000 . . . . . . 0.027 . . . 0 0.0002 0.0002 0 0 0.0017 0.0003 0 0 . . . . . . . . . . 0.133 . 0.453 0.453000 . . 0.100000 . . 1.0E-222 0.000 0.063 . 0.016 . . 0.029 . 0.019 0.453 . . rs61816398 rs61816398 . . 1 1538 10 1/0 0,255,255 +rs61816398 1 145312692 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145312692 145312692 Chr1(GRCh37):g.145312692C>A 1853+1538 1853+1538 NM_001277444.1:c.1853+1538C>A p.? p.? 14 14 613999 1538 5' 95.6376 X.36 0.996803 4.84476 95.6376 X.36 0.996803 4.84476 0 rs61816398 yes no Frequency 1 0.000000 0 0.000184 0.000000 0.000217 0.000000 0.000000 0.000000 0.000274 0.001650 0.000000 0.001650 9 0 2 0 0 0 5 2 0 49006 4712 9216 1208 7312 5698 18248 1212 1400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 2 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 79 Exomes transversion C A C>A 0.004 0.448 222 PASS . . . . . . . . . . . ENSG00000163386:ENST00000369338:exon11:c.C1222A:p.Q408K . . . . 0.22580644 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.059 . . 31.0 . . . . . . . . . . -0.6910 -0.924 -0.691 c . . . . . 3.281e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . NBPF10 . . . 0.014 0.126 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.014 . . 0.476 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.100 . HET 0.07 rs61816398 . . . . . . . . . . . . . . . . . . 0.100000 . . . . . . 0.027 . . . 0 0.0002 0.0002 0 0 0.0017 0.0003 0 0 . . . . . . . . . . 0.133 . 0.453 0.453000 . . 0.100000 . . 1.0E-222 0.000 0.063 . 0.016 . . 0.029 . 0.019 0.453 . . rs61816398 rs61816398 . . 1 1538 10 1/0 0,255,255 +. 1 145314163 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145314163 145314163 Chr1(GRCh37):g.145314163T>C 2027-53 2027-53 NM_001039703.4:c.2027-53T>C p.? p.? 15 14 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.004 0.448 255 PASS . . . . . . . . . . . . . . . . 0.43703705 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . -0.1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.41 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61807291 rs61807291 rs61807291 rs61807291 1 1538 10 1/0 0,243,255 +. 1 145314163 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145314163 145314163 Chr1(GRCh37):g.145314163T>C 1854-2349 1854-2349 NM_001351372.1:c.1854-2349T>C p.? p.? 14 13 -2349 3' 88.6311 10.0629 0.913475 XI.91 88.6311 10.0629 0.913475 XI.91 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.004 0.448 255 PASS . . . . . . . . . . . . . . . . 0.43703705 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . -0.1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.41 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61807291 rs61807291 rs61807291 rs61807291 1 1538 10 1/0 0,243,255 +. 1 145314163 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145314163 145314163 Chr1(GRCh37):g.145314163T>C 1854-2349 1854-2349 NM_001277444.1:c.1854-2349T>C p.? p.? 15 14 613999 -2349 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.004 0.448 255 PASS . . . . . . . . . . . . . . . . 0.43703705 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . -0.1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.41 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61807291 rs61807291 rs61807291 rs61807291 1 1538 10 1/0 0,243,255 +. 1 145314232 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145314232 145314232 Chr1(GRCh37):g.145314232A>G 2043 2043 NM_001039703.4:c.2043A>G p.Gln681= p.Gln681Gln 15 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.008 -0.521 Q Gln CAA 0.256 Q Gln CAG 0.744 681 232 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon15:c.A2043G:p.Q681Q . . . . 0.25 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.4226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.29 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,243,255 +. 1 145314232 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145314232 145314232 Chr1(GRCh37):g.145314232A>G 1854-2280 1854-2280 NM_001351372.1:c.1854-2280A>G p.? p.? 14 13 -2280 3' 88.6311 10.0629 0.913475 XI.91 88.6311 10.0629 0.913475 XI.91 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.008 -0.521 232 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon15:c.A2043G:p.Q681Q . . . . 0.25 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.4226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.29 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,243,255 +. 1 145314232 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145314232 145314232 Chr1(GRCh37):g.145314232A>G 1854-2280 1854-2280 NM_001277444.1:c.1854-2280A>G p.? p.? 15 14 613999 -2280 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.008 -0.521 232 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon15:c.A2043G:p.Q681Q . . . . 0.25 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.4226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.29 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,243,255 +. 1 145314292 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145314292 145314292 Chr1(GRCh37):g.145314292A>T 2078+25 2078+25 NM_001039703.4:c.2078+25A>T p.? p.? 15 15 614000 25 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.967377 3.57506 0 transversion A T A>T 0.000 0.448 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145314292 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145314292 145314292 Chr1(GRCh37):g.145314292A>T 1854-2220 1854-2220 NM_001351372.1:c.1854-2220A>T p.? p.? 14 13 -2220 3' 88.6311 10.0629 0.913475 XI.91 88.6311 10.0629 0.913475 XI.91 0 transversion A T A>T 0.000 0.448 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145314292 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145314292 145314292 Chr1(GRCh37):g.145314292A>T 1854-2220 1854-2220 NM_001277444.1:c.1854-2220A>T p.? p.? 15 14 613999 -2220 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 transversion A T A>T 0.000 0.448 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145318833 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145318833 145318833 Chr1(GRCh37):g.145318833A>T 2759-103 2759-103 NM_001039703.4:c.2759-103A>T p.? p.? 21 20 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145318841 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.003433 0.011494 0.000000 0.000000 0.015625 0.000000 0.001600 0.000661 0.000000 0.015625 25 16 0 0 2 0 6 1 0 7282 1392 172 56 128 0 3750 1514 270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 16 0 0 2 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A T A>T 0.134 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3473054 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . -0.3127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0115 0.0034 0 0 0.0156 0.0007 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 1 145318833 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145318833 145318833 Chr1(GRCh37):g.145318833A>T 2078+1376 2078+1376 NM_001351372.1:c.2078+1376A>T p.? p.? 15 15 1376 5' 87.304 VIII.64 0.994515 III.52 87.304 VIII.64 0.994515 III.52 0 Cryptic Acceptor Strongly Activated 145318841 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.003433 0.011494 0.000000 0.000000 0.015625 0.000000 0.001600 0.000661 0.000000 0.015625 25 16 0 0 2 0 6 1 0 7282 1392 172 56 128 0 3750 1514 270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 16 0 0 2 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A T A>T 0.134 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3473054 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . -0.3127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0115 0.0034 0 0 0.0156 0.0007 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 1 145318833 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145318833 145318833 Chr1(GRCh37):g.145318833A>T 2252-103 2252-103 NM_001277444.1:c.2252-103A>T p.? p.? 18 17 613999 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145318841 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.003433 0.011494 0.000000 0.000000 0.015625 0.000000 0.001600 0.000661 0.000000 0.015625 25 16 0 0 2 0 6 1 0 7282 1392 172 56 128 0 3750 1514 270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 16 0 0 2 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A T A>T 0.134 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3473054 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . -0.3127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0115 0.0034 0 0 0.0156 0.0007 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 1 145318883 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145318883 145318883 Chr1(GRCh37):g.145318883T>C 2759-53 2759-53 NM_001039703.4:c.2759-53T>C p.? p.? 21 20 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.006637 0.030172 0.000000 0.000000 0.000000 0.000000 0.002151 0.000000 0.000000 0.030172 9 7 0 0 0 0 2 0 0 1356 232 4 14 12 0 930 114 50 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 7 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.039 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.34640524 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.7696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.39 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0302 0.0066 0 0 0 0 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs61807291 rs61807291 1 1538 10 1/0 0,231,255 +. 1 145318883 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145318883 145318883 Chr1(GRCh37):g.145318883T>C 2078+1426 2078+1426 NM_001351372.1:c.2078+1426T>C p.? p.? 15 15 1426 5' 87.304 VIII.64 0.994515 III.52 87.304 VIII.64 0.994515 III.52 0 0.006637 0.030172 0.000000 0.000000 0.000000 0.000000 0.002151 0.000000 0.000000 0.030172 9 7 0 0 0 0 2 0 0 1356 232 4 14 12 0 930 114 50 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 7 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.039 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.34640524 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.7696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.39 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0302 0.0066 0 0 0 0 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs61807291 rs61807291 1 1538 10 1/0 0,231,255 +. 1 145318883 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145318883 145318883 Chr1(GRCh37):g.145318883T>C 2252-53 2252-53 NM_001277444.1:c.2252-53T>C p.? p.? 18 17 613999 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.006637 0.030172 0.000000 0.000000 0.000000 0.000000 0.002151 0.000000 0.000000 0.030172 9 7 0 0 0 0 2 0 0 1356 232 4 14 12 0 930 114 50 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 7 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.039 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.34640524 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.7696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.39 0.32 182 . . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0302 0.0066 0 0 0 0 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs61807291 rs61807291 1 1538 10 1/0 0,231,255 +. 1 145323098 A C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145323098 145323098 Chr1(GRCh37):g.145323098A>C 3490+154 3490+154 NM_001039703.4:c.3490+154A>C p.? p.? 26 26 614000 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 145323107 6.9e-05 0.120325 0.000384 68.3734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8234 1200 164 90 494 0 4474 1504 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transversion A C A>C 0.000 0.367 219 PASS . . . . . . . . . . . . . . . . 0.21153846 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.3184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.38 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323098 A C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145323098 145323098 Chr1(GRCh37):g.145323098A>C 2303+923 2303+923 NM_001351372.1:c.2303+923A>C p.? p.? 17 17 923 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 Cryptic Acceptor Strongly Activated 145323107 6.9e-05 0.120325 0.000384 68.3734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8234 1200 164 90 494 0 4474 1504 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transversion A C A>C 0.000 0.367 219 PASS . . . . . . . . . . . . . . . . 0.21153846 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.3184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.38 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323098 A C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145323098 145323098 Chr1(GRCh37):g.145323098A>C 2758+154 2758+154 NM_001277444.1:c.2758+154A>C p.? p.? 21 21 613999 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 145323107 6.9e-05 0.120325 0.000384 68.3734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8234 1200 164 90 494 0 4474 1504 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transversion A C A>C 0.000 0.367 219 PASS . . . . . . . . . . . . . . . . 0.21153846 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.3184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.38 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323100 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145323100 145323100 Chr1(GRCh37):g.145323100T>C 3490+156 3490+156 NM_001039703.4:c.3490+156T>C p.? p.? 26 26 614000 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 0.000123 0.000899 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000899 1 1 0 0 0 0 0 0 0 8108 1112 168 80 480 0 4424 1538 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition T C T>C 0.000 -0.763 238 PASS . . . . . . . . . . . . . . . . 0.26923078 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.42 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323100 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145323100 145323100 Chr1(GRCh37):g.145323100T>C 2303+925 2303+925 NM_001351372.1:c.2303+925T>C p.? p.? 17 17 925 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 0.000123 0.000899 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000899 1 1 0 0 0 0 0 0 0 8108 1112 168 80 480 0 4424 1538 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition T C T>C 0.000 -0.763 238 PASS . . . . . . . . . . . . . . . . 0.26923078 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.42 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145323100 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145323100 145323100 Chr1(GRCh37):g.145323100T>C 2758+156 2758+156 NM_001277444.1:c.2758+156T>C p.? p.? 21 21 613999 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 0.000123 0.000899 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000899 1 1 0 0 0 0 0 0 0 8108 1112 168 80 480 0 4424 1538 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition T C T>C 0.000 -0.763 238 PASS . . . . . . . . . . . . . . . . 0.26923078 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.49 0.42 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145330834 G A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145330834 145330834 Chr1(GRCh37):g.145330834G>A 4714 4714 NM_001039703.4:c.4714G>A p.Gly1572Ser p.Gly1572Ser 36 614000 -22 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 6.76861 0 DUF1220 0.000110 0.000084 0.000186 0.000000 0.000467 0.000167 0.000000 0.000000 0.000000 0.000467 8 1 2 0 4 1 0 0 0 72462 11960 10754 1404 8564 5984 28282 3338 2176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 2 0 4 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 G Gly GGC 0.342 S Ser AGC 0.243 1572 0 0 -1 0.74 I.42 9 9.II 3 32 56 186 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon36:c.G4714A:p.G1572S . NBPF20:NM_001278267:exon64:c.G6748A:p.G2250S . . 0.12631579 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 95.0 . . . . . . . . . . -1.1070 -1.304 -1.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . NBPF20 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.740000 . . . . . . . . . . 0 0.0001 9.806e-05 0 0.0004 0 0 0 0.0002 0.0001 0.0001 0.0018 0 0.0009 0 0 0 . . 0.558 . -0.526 -0.526000 . . 0.740000 . . 1.0E-186 0.994 0.380 . 0.259 0.157 . 0.242 . 0.188 -0.526 0.060 . . . . . 1 1538 10 1/0 0,231,255 +. 1 145330834 G A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145330834 145330834 Chr1(GRCh37):g.145330834G>A 2455 2455 NM_001351372.1:c.2455G>A p.Gly819Ser p.Gly819Ser 18 -22 5' 86.8199 10.1256 0.988158 6.96807 86.8199 10.1256 0.988158 6.69334 0 0.000110 0.000084 0.000186 0.000000 0.000467 0.000167 0.000000 0.000000 0.000000 0.000467 8 1 2 0 4 1 0 0 0 72462 11960 10754 1404 8564 5984 28282 3338 2176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 2 0 4 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 G Gly GGC 0.342 S Ser AGC 0.243 819 11 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 186 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon36:c.G4714A:p.G1572S . NBPF20:NM_001278267:exon64:c.G6748A:p.G2250S . . 0.12631579 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 95.0 . . . . . . . . . . -1.1070 -1.304 -1.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . NBPF20 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.740000 . . . . . . . . . . 0 0.0001 9.806e-05 0 0.0004 0 0 0 0.0002 0.0001 0.0001 0.0018 0 0.0009 0 0 0 . . 0.558 . -0.526 -0.526000 . . 0.740000 . . 1.0E-186 0.994 0.380 . 0.259 0.157 . 0.242 . 0.188 -0.526 0.060 . . . . . 1 1538 10 1/0 0,231,255 +. 1 145330834 G A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145330834 145330834 Chr1(GRCh37):g.145330834G>A 2759-2271 2759-2271 NM_001277444.1:c.2759-2271G>A p.? p.? 22 21 613999 -2271 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 0.000110 0.000084 0.000186 0.000000 0.000467 0.000167 0.000000 0.000000 0.000000 0.000467 8 1 2 0 4 1 0 0 0 72462 11960 10754 1404 8564 5984 28282 3338 2176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 2 0 4 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 186 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon36:c.G4714A:p.G1572S . NBPF20:NM_001278267:exon64:c.G6748A:p.G2250S . . 0.12631579 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 95.0 . . . . . . . . . . -1.1070 -1.304 -1.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . NBPF20 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.740000 . . . . . . . . . . 0 0.0001 9.806e-05 0 0.0004 0 0 0 0.0002 0.0001 0.0001 0.0018 0 0.0009 0 0 0 . . 0.558 . -0.526 -0.526000 . . 0.740000 . . 1.0E-186 0.994 0.380 . 0.259 0.157 . 0.242 . 0.188 -0.526 0.060 . . . . . 1 1538 10 1/0 0,231,255 +rs61813367 1 145331589 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145331589 145331589 Chr1(GRCh37):g.145331589C>A 4750 4750 NM_001039703.4:c.4750C>A p.Gln1584Lys p.Gln1584Lys 37 614000 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 rs61813367 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.004 0.448 Q Gln CAA 0.256 K Lys AAA 0.425 1584 1 1 2 0.89 0.33 10.V 11.III 85 119 53 220 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon37:c.C4750A:p.Q1584K . . . . 0.21666667 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.8193 -1.026 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . 0.41 0.31 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813367 . . . . . . . . . . . . . . ENST00000342960 0.429 0.429 . 0.550000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.465 0.465000 . . 0.550000 . . 1.0E-220 0.002 0.151 . 0.128 . . 0.084 . 0.254 0.465 . . . . rs200773004 rs200773004 1 1538 10 1/0 0,255,255 +rs61813367 1 145331589 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145331589 145331589 Chr1(GRCh37):g.145331589C>A 2491 2491 NM_001351372.1:c.2491C>A p.Gln831Lys p.Gln831Lys 19 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 rs61813367 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.004 0.448 Q Gln CAA 0.256 K Lys AAA 0.425 831 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 220 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon37:c.C4750A:p.Q1584K . . . . 0.21666667 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.8193 -1.026 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . 0.41 0.31 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813367 . . . . . . . . . . . . . . ENST00000342960 0.429 0.429 . 0.550000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.465 0.465000 . . 0.550000 . . 1.0E-220 0.002 0.151 . 0.128 . . 0.084 . 0.254 0.465 . . . . rs200773004 rs200773004 1 1538 10 1/0 0,255,255 +rs61813367 1 145331589 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145331589 145331589 Chr1(GRCh37):g.145331589C>A 2759-1516 2759-1516 NM_001277444.1:c.2759-1516C>A p.? p.? 22 21 613999 -1516 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 rs61813367 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.004 0.448 220 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon37:c.C4750A:p.Q1584K . . . . 0.21666667 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.8193 -1.026 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . 0.41 0.31 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813367 . . . . . . . . . . . . . . ENST00000342960 0.429 0.429 . 0.550000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.465 0.465000 . . 0.550000 . . 1.0E-220 0.002 0.151 . 0.128 . . 0.084 . 0.254 0.465 . . . . rs200773004 rs200773004 1 1538 10 1/0 0,255,255 +. 1 145331750 T G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145331750 145331750 Chr1(GRCh37):g.145331750T>G 4787+124 4787+124 NM_001039703.4:c.4787+124T>G p.? p.? 37 37 614000 124 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion T G T>G 0.000 -1.247 195 PASS . . . . . . . . . . . . . . . . 0.14864865 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.5752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 145331750 T G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145331750 145331750 Chr1(GRCh37):g.145331750T>G 2528+124 2528+124 NM_001351372.1:c.2528+124T>G p.? p.? 19 19 124 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion T G T>G 0.000 -1.247 195 PASS . . . . . . . . . . . . . . . . 0.14864865 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.5752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 145331750 T G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145331750 145331750 Chr1(GRCh37):g.145331750T>G 2759-1355 2759-1355 NM_001277444.1:c.2759-1355T>G p.? p.? 22 21 613999 -1355 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 transversion T G T>G 0.000 -1.247 195 PASS . . . . . . . . . . . . . . . . 0.14864865 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.5752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 145332676 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145332676 145332676 Chr1(GRCh37):g.145332676G>C 4960+281 4960+281 NM_001039703.4:c.4960+281G>C p.? p.? 38 38 614000 281 5' 74.2807 8.34018 0.667515 4.64128 74.2807 8.34018 0.667515 4.64128 0 Cryptic Acceptor Strongly Activated 145332694 7.4e-05 71.6045 0.801323 0.0001 71.6045 transversion G C G>C 0.094 -1.893 211 PASS . . . . . . . . . . . . . . . . 0.18867925 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.8143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs4994039 rs4994039 rs4994039 . 1 1538 10 1/0 0,232,255 +. 1 145332676 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145332676 145332676 Chr1(GRCh37):g.145332676G>C 2701+281 2701+281 NM_001351372.1:c.2701+281G>C p.? p.? 20 20 281 5' 74.2807 8.34018 0.667515 4.64128 74.2807 8.34018 0.667515 4.64128 0 Cryptic Acceptor Strongly Activated 145332694 7.4e-05 71.6045 0.801323 0.0001 71.6045 transversion G C G>C 0.094 -1.893 211 PASS . . . . . . . . . . . . . . . . 0.18867925 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.8143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs4994039 rs4994039 rs4994039 . 1 1538 10 1/0 0,232,255 +. 1 145332676 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145332676 145332676 Chr1(GRCh37):g.145332676G>C 2759-429 2759-429 NM_001277444.1:c.2759-429G>C p.? p.? 22 21 613999 -429 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145332694 7.4e-05 71.6045 0.801323 0.0001 71.6045 transversion G C G>C 0.094 -1.893 211 PASS . . . . . . . . . . . . . . . . 0.18867925 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.8143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs4994039 rs4994039 rs4994039 . 1 1538 10 1/0 0,232,255 +. 1 145332712 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145332712 145332712 Chr1(GRCh37):g.145332712T>C 4960+317 4960+317 NM_001039703.4:c.4960+317T>C p.? p.? 38 38 614000 317 5' 74.2807 8.34018 0.667515 4.64128 74.2807 8.34018 0.667515 4.64128 0 transition T C T>C 0.051 -1.812 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.7654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4994040 rs4994040 rs4994040 . 1 1538 10 1/0 0,244,255 +. 1 145332712 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145332712 145332712 Chr1(GRCh37):g.145332712T>C 2701+317 2701+317 NM_001351372.1:c.2701+317T>C p.? p.? 20 20 317 5' 74.2807 8.34018 0.667515 4.64128 74.2807 8.34018 0.667515 4.64128 0 transition T C T>C 0.051 -1.812 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.7654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4994040 rs4994040 rs4994040 . 1 1538 10 1/0 0,244,255 +. 1 145332712 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145332712 145332712 Chr1(GRCh37):g.145332712T>C 2759-393 2759-393 NM_001277444.1:c.2759-393T>C p.? p.? 22 21 613999 -393 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 transition T C T>C 0.051 -1.812 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.7654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4994040 rs4994040 rs4994040 . 1 1538 10 1/0 0,244,255 +rs370096036 1 145333002 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145333002 145333002 Chr1(GRCh37):g.145333002A>T 4961-103 4961-103 NM_001039703.4:c.4961-103A>T p.? p.? 39 38 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145333010 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 rs370096036 no no 0 0.000000 0 transversion A T A>T 0.138 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.2478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370096036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370096036 . 1 1538 10 1/0 0,255,255 +rs370096036 1 145333002 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145333002 145333002 Chr1(GRCh37):g.145333002A>T 2702-103 2702-103 NM_001351372.1:c.2702-103A>T p.? p.? 21 20 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145333010 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 rs370096036 no no 0 0.000000 0 transversion A T A>T 0.138 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.2478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370096036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370096036 . 1 1538 10 1/0 0,255,255 +rs370096036 1 145333002 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145333002 145333002 Chr1(GRCh37):g.145333002A>T 2759-103 2759-103 NM_001277444.1:c.2759-103A>T p.? p.? 22 21 613999 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145333010 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 rs370096036 no no 0 0.000000 0 transversion A T A>T 0.138 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.2478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370096036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370096036 . 1 1538 10 1/0 0,255,255 +rs61813368 1 145333052 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145333052 145333052 Chr1(GRCh37):g.145333052T>C 4961-53 4961-53 NM_001039703.4:c.4961-53T>C p.? p.? 39 38 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 rs61813368 no no 0 0.000000 0 transition T C T>C 0.173 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61813368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +rs61813368 1 145333052 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145333052 145333052 Chr1(GRCh37):g.145333052T>C 2702-53 2702-53 NM_001351372.1:c.2702-53T>C p.? p.? 21 20 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 rs61813368 no no 0 0.000000 0 transition T C T>C 0.173 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61813368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +rs61813368 1 145333052 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145333052 145333052 Chr1(GRCh37):g.145333052T>C 2759-53 2759-53 NM_001277444.1:c.2759-53T>C p.? p.? 22 21 613999 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 rs61813368 no no 0 0.000000 0 transition T C T>C 0.173 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61813368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +rs61813369 1 145333121 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145333121 145333121 Chr1(GRCh37):g.145333121A>G 4977 4977 NM_001039703.4:c.4977A>G p.Gln1659= p.Gln1659Gln 39 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 rs61813369 no no 0 0.000000 0 0.004636 0.024000 0.004915 0.014286 0.000000 0.001905 0.000926 0.000000 0.006135 0.024000 39 18 11 2 0 4 2 0 2 8412 750 2238 140 642 2100 2160 56 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 18 11 2 0 4 2 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.343 0.125 Q Gln CAA 0.256 Q Gln CAG 0.744 1659 250 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon39:c.A4977G:p.Q1659Q . . . . 0.30769232 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.2276 -0.197 -0.228 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0242 0.0046 0.0049 0.0143 0 0 0.0009 0.0061 0.0019 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-250 0.000 0.063 . 0.138 . . 0.028 . 0.015 . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,255,255 +rs61813369 1 145333121 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution synonymous exon GRCh37 145333121 145333121 Chr1(GRCh37):g.145333121A>G 2718 2718 NM_001351372.1:c.2718A>G p.Gln906= p.Gln906Gln 21 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 rs61813369 no no 0 0.000000 0 0.004636 0.024000 0.004915 0.014286 0.000000 0.001905 0.000926 0.000000 0.006135 0.024000 39 18 11 2 0 4 2 0 2 8412 750 2238 140 642 2100 2160 56 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 18 11 2 0 4 2 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.343 0.125 Q Gln CAA 0.256 Q Gln CAG 0.744 906 250 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon39:c.A4977G:p.Q1659Q . . . . 0.30769232 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.2276 -0.197 -0.228 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0242 0.0046 0.0049 0.0143 0 0 0.0009 0.0061 0.0019 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-250 0.000 0.063 . 0.138 . . 0.028 . 0.015 . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,255,255 +rs61813369 1 145333121 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution synonymous exon GRCh37 145333121 145333121 Chr1(GRCh37):g.145333121A>G 2775 2775 NM_001277444.1:c.2775A>G p.Gln925= p.Gln925Gln 22 613999 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 rs61813369 no no 0 0.000000 0 0.004636 0.024000 0.004915 0.014286 0.000000 0.001905 0.000926 0.000000 0.006135 0.024000 39 18 11 2 0 4 2 0 2 8412 750 2238 140 642 2100 2160 56 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 18 11 2 0 4 2 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.343 0.125 Q Gln CAA 0.256 Q Gln CAG 0.744 925 250 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon39:c.A4977G:p.Q1659Q . . . . 0.30769232 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.2276 -0.197 -0.228 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0242 0.0046 0.0049 0.0143 0 0 0.0009 0.0061 0.0019 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-250 0.000 0.063 . 0.138 . . 0.028 . 0.015 . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,255,255 +. 1 145333181 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145333181 145333181 Chr1(GRCh37):g.145333181A>T 5012+25 5012+25 NM_001039703.4:c.5012+25A>T p.? p.? 39 39 614000 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.006188 0.003597 0.009363 0.000000 0.000000 0.005338 0.007188 0.000000 0.004237 0.009363 36 2 15 0 0 9 9 0 1 5818 556 1602 94 364 1686 1252 28 236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 2 15 0 0 9 9 0 1 0 0 0 0 0 0 0 0 0 RF 99 Exomes transversion A T A>T 0.205 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0062 0.0094 0 0 0 0.0072 0.0042 0.0053 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 145333181 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145333181 145333181 Chr1(GRCh37):g.145333181A>T 2753+25 2753+25 NM_001351372.1:c.2753+25A>T p.? p.? 21 21 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.006188 0.003597 0.009363 0.000000 0.000000 0.005338 0.007188 0.000000 0.004237 0.009363 36 2 15 0 0 9 9 0 1 5818 556 1602 94 364 1686 1252 28 236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 2 15 0 0 9 9 0 1 0 0 0 0 0 0 0 0 0 RF 99 Exomes transversion A T A>T 0.205 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0062 0.0094 0 0 0 0.0072 0.0042 0.0053 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 145333181 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145333181 145333181 Chr1(GRCh37):g.145333181A>T 2810+25 2810+25 NM_001277444.1:c.2810+25A>T p.? p.? 22 22 613999 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.006188 0.003597 0.009363 0.000000 0.000000 0.005338 0.007188 0.000000 0.004237 0.009363 36 2 15 0 0 9 9 0 1 5818 556 1602 94 364 1686 1252 28 236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 2 15 0 0 9 9 0 1 0 0 0 0 0 0 0 0 0 RF 99 Exomes transversion A T A>T 0.205 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0062 0.0094 0 0 0 0.0072 0.0042 0.0053 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs61813378 1 145335535 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145335535 145335535 Chr1(GRCh37):g.145335535A>G 5441 5441 NM_001039703.4:c.5441A>G p.His1814Arg p.His1814Arg 42 614000 -27 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 7.06096 0 DUF1220 rs61813378 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -1.409 H His CAT 0.413 R Arg CGT 0.082 1814 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.A5441G:p.H1814R . . . . 0.4864865 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 185.0 . . . . . . . . . . -1.5755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813378 . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.530 -1.530000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.530 . . . . . . 1 1538 10 1/0 0,228,241 +rs61813378 1 145335535 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145335535 145335535 Chr1(GRCh37):g.145335535A>G 2753+2379 2753+2379 NM_001351372.1:c.2753+2379A>G p.? p.? 21 21 2379 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 rs61813378 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.A5441G:p.H1814R . . . . 0.4864865 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 185.0 . . . . . . . . . . -1.5755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813378 . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.530 -1.530000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.530 . . . . . . 1 1538 10 1/0 0,228,241 +rs61813378 1 145335535 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145335535 145335535 Chr1(GRCh37):g.145335535A>G 2810+2379 2810+2379 NM_001277444.1:c.2810+2379A>G p.? p.? 22 22 613999 2379 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 rs61813378 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.A5441G:p.H1814R . . . . 0.4864865 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 185.0 . . . . . . . . . . -1.5755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs61813378 . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.530 -1.530000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.530 . . . . . . 1 1538 10 1/0 0,228,241 +. 1 145335540 G A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145335540 145335540 Chr1(GRCh37):g.145335540G>A 5446 5446 NM_001039703.4:c.5446G>A p.Gly1816Ser p.Gly1816Ser 42 614000 -22 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 6.76861 0 DUF1220 transition G A G>A 0.000 -0.440 G Gly GGC 0.342 S Ser AGC 0.243 1816 0 0 -1 0.74 I.42 9 9.II 3 32 56 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.G5446A:p.G1816S . . . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 192.0 . . . . . . . . . . -1.0971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.810000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.526 -0.526000 . . 0.810000 . . 1.0E-197 . . . . . . . . . -0.526 . . . . . . 1 1538 10 1/0 0,203,255 +. 1 145335540 G A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145335540 145335540 Chr1(GRCh37):g.145335540G>A 2753+2384 2753+2384 NM_001351372.1:c.2753+2384G>A p.? p.? 21 21 2384 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition G A G>A 0.000 -0.440 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.G5446A:p.G1816S . . . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 192.0 . . . . . . . . . . -1.0971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.810000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.526 -0.526000 . . 0.810000 . . 1.0E-197 . . . . . . . . . -0.526 . . . . . . 1 1538 10 1/0 0,203,255 +. 1 145335540 G A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145335540 145335540 Chr1(GRCh37):g.145335540G>A 2810+2384 2810+2384 NM_001277444.1:c.2810+2384G>A p.? p.? 22 22 613999 2384 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition G A G>A 0.000 -0.440 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon42:c.G5446A:p.G1816S . . . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 192.0 . . . . . . . . . . -1.0971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.810000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.526 -0.526000 . . 0.810000 . . 1.0E-197 . . . . . . . . . -0.526 . . . . . . 1 1538 10 1/0 0,203,255 +. 1 145337708 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145337708 145337708 Chr1(GRCh37):g.145337708A>T 5693-103 5693-103 NM_001039703.4:c.5693-103A>T p.? p.? 45 44 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145337716 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.122 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.3150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337708 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145337708 145337708 Chr1(GRCh37):g.145337708A>T 2753+4552 2753+4552 NM_001351372.1:c.2753+4552A>T p.? p.? 21 21 4552 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 Cryptic Acceptor Strongly Activated 145337716 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.122 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.3150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337708 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145337708 145337708 Chr1(GRCh37):g.145337708A>T 2810+4552 2810+4552 NM_001277444.1:c.2810+4552A>T p.? p.? 22 22 613999 4552 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 Cryptic Acceptor Strongly Activated 145337716 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.122 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.3150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337758 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145337758 145337758 Chr1(GRCh37):g.145337758T>C 5693-53 5693-53 NM_001039703.4:c.5693-53T>C p.? p.? 45 44 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 transition T C T>C 0.169 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.0888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337758 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145337758 145337758 Chr1(GRCh37):g.145337758T>C 2753+4602 2753+4602 NM_001351372.1:c.2753+4602T>C p.? p.? 21 21 4602 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition T C T>C 0.169 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.0888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337758 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145337758 145337758 Chr1(GRCh37):g.145337758T>C 2810+4602 2810+4602 NM_001277444.1:c.2810+4602T>C p.? p.? 22 22 613999 4602 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition T C T>C 0.169 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.0888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337827 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145337827 145337827 Chr1(GRCh37):g.145337827A>G 5709 5709 NM_001039703.4:c.5709A>G p.Gln1903= p.Gln1903Gln 45 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000773 0.000000 0.002146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002146 1 0 1 0 0 0 0 0 0 1294 96 466 14 72 404 182 6 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 224 Exomes transition A G A>G 0.291 0.125 Q Gln CAA 0.256 Q Gln CAG 0.744 1903 235 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon45:c.A5709G:p.Q1903Q . . . . 0.26027396 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.0342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0.0021 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145337827 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145337827 145337827 Chr1(GRCh37):g.145337827A>G 2753+4671 2753+4671 NM_001351372.1:c.2753+4671A>G p.? p.? 21 21 4671 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000773 0.000000 0.002146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002146 1 0 1 0 0 0 0 0 0 1294 96 466 14 72 404 182 6 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 224 Exomes transition A G A>G 0.291 0.125 235 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon45:c.A5709G:p.Q1903Q . . . . 0.26027396 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.0342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0.0021 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145337827 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145337827 145337827 Chr1(GRCh37):g.145337827A>G 2810+4671 2810+4671 NM_001277444.1:c.2810+4671A>G p.? p.? 22 22 613999 4671 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000773 0.000000 0.002146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002146 1 0 1 0 0 0 0 0 0 1294 96 466 14 72 404 182 6 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 224 Exomes transition A G A>G 0.291 0.125 235 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon45:c.A5709G:p.Q1903Q . . . . 0.26027396 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.0342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0.0021 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 1 145337887 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145337887 145337887 Chr1(GRCh37):g.145337887A>T 5744+25 5744+25 NM_001039703.4:c.5744+25A>T p.? p.? 45 45 614000 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 944 50 366 10 52 316 104 6 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 299 Exomes transversion A T A>T 0.004 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16949153 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337887 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145337887 145337887 Chr1(GRCh37):g.145337887A>T 2753+4731 2753+4731 NM_001351372.1:c.2753+4731A>T p.? p.? 21 21 4731 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 944 50 366 10 52 316 104 6 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 299 Exomes transversion A T A>T 0.004 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16949153 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145337887 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145337887 145337887 Chr1(GRCh37):g.145337887A>T 2810+4731 2810+4731 NM_001277444.1:c.2810+4731A>T p.? p.? 22 22 613999 4731 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 944 50 366 10 52 316 104 6 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 299 Exomes transversion A T A>T 0.004 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16949153 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145340255 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145340255 145340255 Chr1(GRCh37):g.145340255A>G 6173 6173 NM_001039703.4:c.6173A>G p.His2058Arg p.His2058Arg 48 614000 -27 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 7.06096 0 DUF1220 transition A G A>G 0.000 -1.570 H His CAT 0.413 R Arg CGT 0.082 2058 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon48:c.A6173G:p.H2058R . . . . 0.49720672 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 179.0 . . . . . . . . . . -1.4473 -1.670 -1.447 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.093 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.062 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.557 -1.11 . 0.700000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.777 -1.777000 . . 0.700000 . . 1.0E-255 0.033 0.204 . 0.062 . . 0.268 . 0.273 -1.777 . . . . . . 1 1538 10 1/0 0,229,238 +. 1 145340255 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145340255 145340255 Chr1(GRCh37):g.145340255A>G 2753+7099 2753+7099 NM_001351372.1:c.2753+7099A>G p.? p.? 21 21 7099 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition A G A>G 0.000 -1.570 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon48:c.A6173G:p.H2058R . . . . 0.49720672 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 179.0 . . . . . . . . . . -1.4473 -1.670 -1.447 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.093 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.062 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.557 -1.11 . 0.700000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.777 -1.777000 . . 0.700000 . . 1.0E-255 0.033 0.204 . 0.062 . . 0.268 . 0.273 -1.777 . . . . . . 1 1538 10 1/0 0,229,238 +. 1 145340255 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145340255 145340255 Chr1(GRCh37):g.145340255A>G 2810+7099 2810+7099 NM_001277444.1:c.2810+7099A>G p.? p.? 22 22 613999 7099 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transition A G A>G 0.000 -1.570 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon48:c.A6173G:p.H2058R . . . . 0.49720672 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 179.0 . . . . . . . . . . -1.4473 -1.670 -1.447 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.093 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.062 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000342960 0.557 -1.11 . 0.700000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.777 -1.777000 . . 0.700000 . . 1.0E-255 0.033 0.204 . 0.062 . . 0.268 . 0.273 -1.777 . . . . . . 1 1538 10 1/0 0,229,238 +. 1 145341015 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145341015 145341015 Chr1(GRCh37):g.145341015C>A 6214 6214 NM_001039703.4:c.6214C>A p.Gln2072Lys p.Gln2072Lys 49 614000 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 2072 1 1 2 0.89 0.33 10.V 11.III 85 119 53 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon49:c.C6214A:p.Q2072K . . . . 0.14705883 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.052 . . 34.0 . . . . . . . . . . -0.8290 -1.048 -0.829 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.2 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.029 0.002 . . 37 . 0.013 . . 0.473 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.118 . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.420000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.149 0.149000 . . 0.420000 . . 1.0E-194 0.100 0.226 . . . . 0.241 . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145341015 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145341015 145341015 Chr1(GRCh37):g.145341015C>A 2753+7859 2753+7859 NM_001351372.1:c.2753+7859C>A p.? p.? 21 21 7859 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transversion C A C>A 0.114 0.125 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon49:c.C6214A:p.Q2072K . . . . 0.14705883 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.052 . . 34.0 . . . . . . . . . . -0.8290 -1.048 -0.829 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.2 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.029 0.002 . . 37 . 0.013 . . 0.473 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.118 . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.420000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.149 0.149000 . . 0.420000 . . 1.0E-194 0.100 0.226 . . . . 0.241 . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145341015 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145341015 145341015 Chr1(GRCh37):g.145341015C>A 2810+7859 2810+7859 NM_001277444.1:c.2810+7859C>A p.? p.? 22 22 613999 7859 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 transversion C A C>A 0.114 0.125 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon49:c.C6214A:p.Q2072K . . . . 0.14705883 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.052 . . 34.0 . . . . . . . . . . -0.8290 -1.048 -0.829 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.2 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.029 0.002 . . 37 . 0.013 . . 0.473 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.118 . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.420000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.149 0.149000 . . 0.420000 . . 1.0E-194 0.100 0.226 . . . . 0.241 . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145342428 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145342428 145342428 Chr1(GRCh37):g.145342428A>T 6425-103 6425-103 NM_001039703.4:c.6425-103A>T p.? p.? 51 50 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145342436 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.130 0.125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.2141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145342428 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145342428 145342428 Chr1(GRCh37):g.145342428A>T 2753+9272 2753+9272 NM_001351372.1:c.2753+9272A>T p.? p.? 21 21 9272 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 Cryptic Acceptor Strongly Activated 145342436 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.130 0.125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.2141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145342428 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145342428 145342428 Chr1(GRCh37):g.145342428A>T 2810+9272 2810+9272 NM_001277444.1:c.2810+9272A>T p.? p.? 22 22 613999 9272 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 Cryptic Acceptor Strongly Activated 145342436 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.130 0.125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.2141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145342478 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145342478 145342478 Chr1(GRCh37):g.145342478T>C 6425-53 6425-53 NM_001039703.4:c.6425-53T>C p.? p.? 51 50 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.087 -1.651 213 PASS . . . . . . . . . . . . . . . . 0.19402985 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.5013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 145342478 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145342478 145342478 Chr1(GRCh37):g.145342478T>C 2753+9322 2753+9322 NM_001351372.1:c.2753+9322T>C p.? p.? 21 21 9322 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.087 -1.651 213 PASS . . . . . . . . . . . . . . . . 0.19402985 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.5013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 145342478 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145342478 145342478 Chr1(GRCh37):g.145342478T>C 2810+9322 2810+9322 NM_001277444.1:c.2810+9322T>C p.? p.? 22 22 613999 9322 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.087 -1.651 213 PASS . . . . . . . . . . . . . . . . 0.19402985 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.5013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 145342547 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145342547 145342547 Chr1(GRCh37):g.145342547A>G 6441 6441 NM_001039703.4:c.6441A>G p.Gln2147= p.Gln2147Gln 51 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.031 -0.763 Q Gln CAA 0.256 Q Gln CAG 0.744 2147 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon51:c.A6441G:p.Q2147Q . . . . 0.15189873 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4356 -0.224 -0.436 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.111 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-197 0.552 0.271 . . . . 0.057 . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145342547 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145342547 145342547 Chr1(GRCh37):g.145342547A>G 2753+9391 2753+9391 NM_001351372.1:c.2753+9391A>G p.? p.? 21 21 9391 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.031 -0.763 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon51:c.A6441G:p.Q2147Q . . . . 0.15189873 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4356 -0.224 -0.436 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.111 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-197 0.552 0.271 . . . . 0.057 . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145342547 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145342547 145342547 Chr1(GRCh37):g.145342547A>G 2810+9391 2810+9391 NM_001277444.1:c.2810+9391A>G p.? p.? 22 22 613999 9391 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 3.26654 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.031 -0.763 197 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon51:c.A6441G:p.Q2147Q . . . . 0.15189873 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4356 -0.224 -0.436 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.111 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-197 0.552 0.271 . . . . 0.057 . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145344014 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145344014 145344014 Chr1(GRCh37):g.145344014G>C 6650-114 6650-114 NM_001039703.4:c.6650-114G>C p.? p.? 53 52 614000 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344014 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145344014 145344014 Chr1(GRCh37):g.145344014G>C 2754-8671 2754-8671 NM_001351372.1:c.2754-8671G>C p.? p.? 22 21 -8671 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transversion G C G>C 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344014 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145344014 145344014 Chr1(GRCh37):g.145344014G>C 2811-8671 2811-8671 NM_001277444.1:c.2811-8671G>C p.? p.? 23 22 613999 -8671 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transversion G C G>C 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344979 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145344979 145344979 Chr1(GRCh37):g.145344979A>G 6905 6905 NM_001039703.4:c.6905A>G p.His2302Arg p.His2302Arg 54 614000 -27 5' 86.8199 10.1256 0.988158 7.04335 86.8199 10.1256 0.988158 7.06096 0 DUF1220 transition A G A>G 0.000 -3.346 H His CAT 0.413 R Arg CGT 0.082 2302 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon54:c.A6905G:p.H2302R . . . . 0.36263737 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . -2.1583 -2.264 -2.158 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . . . . . 0.111 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.360000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -3.549 -3.549000 . . 0.360000 . . 1.0E-255 0.001 0.137 . 0.083 . . 0.277 . 0.248 -3.549 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344979 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145344979 145344979 Chr1(GRCh37):g.145344979A>G 2754-7706 2754-7706 NM_001351372.1:c.2754-7706A>G p.? p.? 22 21 -7706 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transition A G A>G 0.000 -3.346 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon54:c.A6905G:p.H2302R . . . . 0.36263737 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . -2.1583 -2.264 -2.158 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . . . . . 0.111 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.360000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -3.549 -3.549000 . . 0.360000 . . 1.0E-255 0.001 0.137 . 0.083 . . 0.277 . 0.248 -3.549 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145344979 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145344979 145344979 Chr1(GRCh37):g.145344979A>G 2811-7706 2811-7706 NM_001277444.1:c.2811-7706A>G p.? p.? 23 22 613999 -7706 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transition A G A>G 0.000 -3.346 255 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon54:c.A6905G:p.H2302R . . . . 0.36263737 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . -2.1583 -2.264 -2.158 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000163386 . . . . . 0.111 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000342960 0.59 -1.18 . 0.360000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . -3.549 -3.549000 . . 0.360000 . . 1.0E-255 0.001 0.137 . 0.083 . . 0.277 . 0.248 -3.549 . . . . . . 1 1538 10 1/0 0,255,255 +rs201882371 1 145345739 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145345739 145345739 Chr1(GRCh37):g.145345739C>A 6946 6946 NM_001039703.4:c.6946C>A p.Gln2316Lys p.Gln2316Lys 55 614000 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 rs201882371 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.000 -14.080 Q Gln CAA 0.256 K Lys AAA 0.425 2316 1 1 2 0.89 0.33 10.V 11.III 85 119 53 237 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon55:c.C6946A:p.Q2316K . . . . 0.27027026 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.057 . . 37.0 . . . . . . . . . . -0.4759 -0.627 -0.476 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.29 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.608 0.043 . . 37 . 0.015 . . 0.478 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.132 . HET 0.11 rs201882371 . . . . . . . . . . . . . . ENST00000342960 . . . 0.300000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . 0.300000 . . 1.0E-237 0.007 0.175 . 0.043 . . 0.257 . 0.270 . . . . . rs201882371 rs201882371 1 1538 10 1/0 0,255,255 +rs201882371 1 145345739 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145345739 145345739 Chr1(GRCh37):g.145345739C>A 2754-6946 2754-6946 NM_001351372.1:c.2754-6946C>A p.? p.? 22 21 -6946 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 rs201882371 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.000 -14.080 237 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon55:c.C6946A:p.Q2316K . . . . 0.27027026 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.057 . . 37.0 . . . . . . . . . . -0.4759 -0.627 -0.476 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.29 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.608 0.043 . . 37 . 0.015 . . 0.478 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.132 . HET 0.11 rs201882371 . . . . . . . . . . . . . . ENST00000342960 . . . 0.300000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . 0.300000 . . 1.0E-237 0.007 0.175 . 0.043 . . 0.257 . 0.270 . . . . . rs201882371 rs201882371 1 1538 10 1/0 0,255,255 +rs201882371 1 145345739 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145345739 145345739 Chr1(GRCh37):g.145345739C>A 2811-6946 2811-6946 NM_001277444.1:c.2811-6946C>A p.? p.? 23 22 613999 -6946 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 rs201882371 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.000 -14.080 237 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon55:c.C6946A:p.Q2316K . . . . 0.27027026 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.057 . . 37.0 . . . . . . . . . . -0.4759 -0.627 -0.476 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.29 182 ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.608 0.043 . . 37 . 0.015 . . 0.478 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . 0.132 . HET 0.11 rs201882371 . . . . . . . . . . . . . . ENST00000342960 . . . 0.300000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . 0.300000 . . 1.0E-237 0.007 0.175 . 0.043 . . 0.257 . 0.270 . . . . . rs201882371 rs201882371 1 1538 10 1/0 0,255,255 +. 1 145347152 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145347152 145347152 Chr1(GRCh37):g.145347152A>T 7157-103 7157-103 NM_001039703.4:c.7157-103A>T p.? p.? 57 56 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145347160 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.000 -0.602 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.5386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347152 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145347152 145347152 Chr1(GRCh37):g.145347152A>T 2754-5533 2754-5533 NM_001351372.1:c.2754-5533A>T p.? p.? 22 21 -5533 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145347160 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.000 -0.602 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.5386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347152 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145347152 145347152 Chr1(GRCh37):g.145347152A>T 2811-5533 2811-5533 NM_001277444.1:c.2811-5533A>T p.? p.? 23 22 613999 -5533 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145347160 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.000 -0.602 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.5386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347202 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145347202 145347202 Chr1(GRCh37):g.145347202T>C 7157-53 7157-53 NM_001039703.4:c.7157-53T>C p.? p.? 57 56 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.367 246 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.2611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347202 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145347202 145347202 Chr1(GRCh37):g.145347202T>C 2754-5483 2754-5483 NM_001351372.1:c.2754-5483T>C p.? p.? 22 21 -5483 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.367 246 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.2611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347202 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145347202 145347202 Chr1(GRCh37):g.145347202T>C 2811-5483 2811-5483 NM_001277444.1:c.2811-5483T>C p.? p.? 23 22 613999 -5483 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.367 246 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.2611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347271 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145347271 145347271 Chr1(GRCh37):g.145347271A>G 7173 7173 NM_001039703.4:c.7173A>G p.Gln2391= p.Gln2391Gln 57 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.521 Q Gln CAA 0.256 Q Gln CAG 0.744 2391 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3765 -0.221 -0.376 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.090 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-255 0.022 0.197 . . . . 0.025 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347271 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145347271 145347271 Chr1(GRCh37):g.145347271A>G 2754-5414 2754-5414 NM_001351372.1:c.2754-5414A>G p.? p.? 22 21 -5414 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3765 -0.221 -0.376 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.090 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-255 0.022 0.197 . . . . 0.025 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145347271 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145347271 145347271 Chr1(GRCh37):g.145347271A>G 2811-5414 2811-5414 NM_001277444.1:c.2811-5414A>G p.? p.? 23 22 613999 -5414 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3765 -0.221 -0.376 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.090 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . 0.246 . . . . . . . . 1.0E-255 0.022 0.197 . . . . 0.025 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145351882 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145351882 145351882 Chr1(GRCh37):g.145351882A>T 7889-103 7889-103 NM_001039703.4:c.7889-103A>T p.? p.? 63 62 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145351890 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.004717 0.006003 0.000000 0.000000 0.000000 0.000000 0.004271 0.000000 0.017045 0.006003 24 7 0 0 0 0 14 0 3 5088 1166 108 56 106 0 3278 198 176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 0 0 0 0 14 0 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion A T A>T 0.079 0.205 222 PASS . . . . . . . . . . . . . . . . 0.22033899 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0047 0 0 0 0 0.0043 0.0170 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145351882 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145351882 145351882 Chr1(GRCh37):g.145351882A>T 2754-803 2754-803 NM_001351372.1:c.2754-803A>T p.? p.? 22 21 -803 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145351890 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.004717 0.006003 0.000000 0.000000 0.000000 0.000000 0.004271 0.000000 0.017045 0.006003 24 7 0 0 0 0 14 0 3 5088 1166 108 56 106 0 3278 198 176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 0 0 0 0 14 0 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion A T A>T 0.079 0.205 222 PASS . . . . . . . . . . . . . . . . 0.22033899 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0047 0 0 0 0 0.0043 0.0170 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145351882 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145351882 145351882 Chr1(GRCh37):g.145351882A>T 2811-803 2811-803 NM_001277444.1:c.2811-803A>T p.? p.? 23 22 613999 -803 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145351890 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 0.004717 0.006003 0.000000 0.000000 0.000000 0.000000 0.004271 0.000000 0.017045 0.006003 24 7 0 0 0 0 14 0 3 5088 1166 108 56 106 0 3278 198 176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 0 0 0 0 14 0 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion A T A>T 0.079 0.205 222 PASS . . . . . . . . . . . . . . . . 0.22033899 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0047 0 0 0 0 0.0043 0.0170 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145351932 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145351932 145351932 Chr1(GRCh37):g.145351932T>C 7889-53 7889-53 NM_001039703.4:c.7889-53T>C p.? p.? 63 62 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.001695 0.001979 0.000000 0.000000 0.000000 0.000000 0.001349 0.000000 0.011494 0.001979 10 3 0 0 0 0 5 0 2 5898 1516 96 86 168 0 3706 152 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 0 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition T C T>C 0.343 0.205 254 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . 0.0092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0017 0 0 0 0 0.0013 0.0115 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 1 145351932 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145351932 145351932 Chr1(GRCh37):g.145351932T>C 2754-753 2754-753 NM_001351372.1:c.2754-753T>C p.? p.? 22 21 -753 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.001695 0.001979 0.000000 0.000000 0.000000 0.000000 0.001349 0.000000 0.011494 0.001979 10 3 0 0 0 0 5 0 2 5898 1516 96 86 168 0 3706 152 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 0 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition T C T>C 0.343 0.205 254 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . 0.0092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0017 0 0 0 0 0.0013 0.0115 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 1 145351932 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145351932 145351932 Chr1(GRCh37):g.145351932T>C 2811-753 2811-753 NM_001277444.1:c.2811-753T>C p.? p.? 23 22 613999 -753 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.001695 0.001979 0.000000 0.000000 0.000000 0.000000 0.001349 0.000000 0.011494 0.001979 10 3 0 0 0 0 5 0 2 5898 1516 96 86 168 0 3706 152 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 0 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition T C T>C 0.343 0.205 254 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . 0.0092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0017 0 0 0 0 0.0013 0.0115 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 1 145352001 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145352001 145352001 Chr1(GRCh37):g.145352001A>G 7905 7905 NM_001039703.4:c.7905A>G p.Gln2635= p.Gln2635Gln 63 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000146 0.000114 0.000000 0.000000 0.000000 0.000000 0.000286 0.000000 0.000000 0.000286 7 1 0 0 0 0 6 0 0 47806 8734 5346 970 5532 3884 20996 980 1364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.118 0.205 Q Gln CAA 0.256 Q Gln CAG 0.744 2635 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.A7905G:p.Q2635Q . . . . 0.14563107 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.2932 -0.211 -0.293 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0004 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.246 . . . . . . . . 1.0E-194 0.031 0.203 . 0.083 . . 0.065 . 0.266 . . . . . . . 1 1538 10 1/0 0,229,255 +. 1 145352001 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145352001 145352001 Chr1(GRCh37):g.145352001A>G 2754-684 2754-684 NM_001351372.1:c.2754-684A>G p.? p.? 22 21 -684 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000146 0.000114 0.000000 0.000000 0.000000 0.000000 0.000286 0.000000 0.000000 0.000286 7 1 0 0 0 0 6 0 0 47806 8734 5346 970 5532 3884 20996 980 1364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.118 0.205 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.A7905G:p.Q2635Q . . . . 0.14563107 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.2932 -0.211 -0.293 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0004 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.246 . . . . . . . . 1.0E-194 0.031 0.203 . 0.083 . . 0.065 . 0.266 . . . . . . . 1 1538 10 1/0 0,229,255 +. 1 145352001 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145352001 145352001 Chr1(GRCh37):g.145352001A>G 2811-684 2811-684 NM_001277444.1:c.2811-684A>G p.? p.? 23 22 613999 -684 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 0.000146 0.000114 0.000000 0.000000 0.000000 0.000000 0.000286 0.000000 0.000000 0.000286 7 1 0 0 0 0 6 0 0 47806 8734 5346 970 5532 3884 20996 980 1364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.118 0.205 194 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.A7905G:p.Q2635Q . . . . 0.14563107 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.2932 -0.211 -0.293 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0004 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.246 . . . . . . . . 1.0E-194 0.031 0.203 . 0.083 . . 0.065 . 0.266 . . . . . . . 1 1538 10 1/0 0,229,255 +. 1 145352032 C T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145352032 145352032 Chr1(GRCh37):g.145352032C>T 7936 7936 NM_001039703.4:c.7936C>T p.Pro2646Ser p.Pro2646Ser 63 614000 -5 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.979797 3.46935 0.00427961 Cryptic Acceptor Strongly Activated 145352037 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 DUF1220 transition C T C>T 0.075 0.528 P Pro CCC 0.328 S Ser TCC 0.220 2646 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 179 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.C7936T:p.P2646S . . . . 0.112068966 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . -0.6927 -0.847 -0.693 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . ENST00000342960 0.438 0.438 . 0.090000 A6NDV3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.510 0.510000 . . 0.090000 . . 1.0E-179 0.236 0.245 . 0.180 . . 0.110 . 0.215 0.510 . . . . . . 1 1538 10 1/0 0,221,255 +. 1 145352032 C T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145352032 145352032 Chr1(GRCh37):g.145352032C>T 2754-653 2754-653 NM_001351372.1:c.2754-653C>T p.? p.? 22 21 -653 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145352037 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 transition C T C>T 0.075 0.528 179 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.C7936T:p.P2646S . . . . 0.112068966 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . -0.6927 -0.847 -0.693 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . ENST00000342960 0.438 0.438 . 0.090000 A6NDV3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.510 0.510000 . . 0.090000 . . 1.0E-179 0.236 0.245 . 0.180 . . 0.110 . 0.215 0.510 . . . . . . 1 1538 10 1/0 0,221,255 +. 1 145352032 C T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145352032 145352032 Chr1(GRCh37):g.145352032C>T 2811-653 2811-653 NM_001277444.1:c.2811-653C>T p.? p.? 23 22 613999 -653 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 145352037 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 transition C T C>T 0.075 0.528 179 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon63:c.C7936T:p.P2646S . . . . 0.112068966 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . -0.6927 -0.847 -0.693 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.157 @ . . . . . . ENSG00000163386 . . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . ENST00000342960 0.438 0.438 . 0.090000 A6NDV3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.510 0.510000 . . 0.090000 . . 1.0E-179 0.236 0.245 . 0.180 . . 0.110 . 0.215 0.510 . . . . . . 1 1538 10 1/0 0,221,255 +. 1 145353458 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145353458 145353458 Chr1(GRCh37):g.145353458G>C 8114-114 8114-114 NM_001039703.4:c.8114-114G>C p.? p.? 65 64 614000 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.008 0.125 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.29 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145353458 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145353458 145353458 Chr1(GRCh37):g.145353458G>C 2927-114 2927-114 NM_001351372.1:c.2927-114G>C p.? p.? 23 22 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.008 0.125 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.29 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145353458 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145353458 145353458 Chr1(GRCh37):g.145353458G>C 2984-114 2984-114 NM_001277444.1:c.2984-114G>C p.? p.? 24 23 613999 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.008 0.125 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.29 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145356616 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145356616 145356616 Chr1(GRCh37):g.145356616A>T 8621-103 8621-103 NM_001039703.4:c.8621-103A>T p.? p.? 69 68 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145356624 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.130 0.125 214 PASS . . . . . . . . . . . . . . . . 0.19672132 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.1328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145356616 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145356616 145356616 Chr1(GRCh37):g.145356616A>T 3434-103 3434-103 NM_001351372.1:c.3434-103A>T p.? p.? 27 26 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145356624 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.130 0.125 214 PASS . . . . . . . . . . . . . . . . 0.19672132 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.1328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145356616 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145356616 145356616 Chr1(GRCh37):g.145356616A>T 3092+2936 3092+2936 NM_001277444.1:c.3092+2936A>T p.? p.? 24 24 613999 2936 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 Cryptic Acceptor Strongly Activated 145356624 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.130 0.125 214 PASS . . . . . . . . . . . . . . . . 0.19672132 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.1328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145356666 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145356666 145356666 Chr1(GRCh37):g.145356666T>C 8621-53 8621-53 NM_001039703.4:c.8621-53T>C p.? p.? 69 68 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001104 0.000000 1 0 0 0 0 0 0 0 1 29418 8682 792 224 1568 0 13754 3492 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition T C T>C 0.134 0.125 217 PASS . . . . . . . . . . . . . . . . 0.20408164 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . -0.0903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.35 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.399e-05 0 0 0 0 0 0.0011 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 1 145356666 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145356666 145356666 Chr1(GRCh37):g.145356666T>C 3434-53 3434-53 NM_001351372.1:c.3434-53T>C p.? p.? 27 26 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001104 0.000000 1 0 0 0 0 0 0 0 1 29418 8682 792 224 1568 0 13754 3492 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition T C T>C 0.134 0.125 217 PASS . . . . . . . . . . . . . . . . 0.20408164 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . -0.0903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.35 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.399e-05 0 0 0 0 0 0.0011 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 1 145356666 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145356666 145356666 Chr1(GRCh37):g.145356666T>C 3092+2986 3092+2986 NM_001277444.1:c.3092+2986T>C p.? p.? 24 24 613999 2986 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001104 0.000000 1 0 0 0 0 0 0 0 1 29418 8682 792 224 1568 0 13754 3492 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition T C T>C 0.134 0.125 217 PASS . . . . . . . . . . . . . . . . 0.20408164 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . -0.0903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.35 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.399e-05 0 0 0 0 0 0.0011 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 1 145356766 C T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145356766 145356766 Chr1(GRCh37):g.145356766C>T 8668 8668 NM_001039703.4:c.8668C>T p.Pro2890Ser p.Pro2890Ser 69 614000 -5 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.979797 3.46935 0.00427961 Cryptic Acceptor Strongly Activated 145356771 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 DUF1220 0.000147 0.000606 0.000123 0.000000 0.000000 0.000388 0.000000 0.000000 0.000000 0.000606 10 7 1 0 0 2 0 0 0 67902 11556 8128 1194 8132 5154 27652 3986 2100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 7 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.205 0.125 P Pro CCC 0.328 S Ser TCC 0.220 2890 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 176 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon69:c.C8668T:p.P2890S . . . . 0.105960265 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2412 -0.523 -0.241 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 NBPF10 NBPF25P . . . 0.000 0.038 . . . . . . . . . 0 . . . . . . T 0.002 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.080000 A6NDV3 . . . . . . . . . 0.0003 0.0001 0.0001 0 0 0 0 0 0.0004 0.0007 0.0002 0 0 0 0 0 0 . . 0.246 . 0.159 0.159000 . . 0.080000 . . 1.0E-176 0.827 0.298 . 0.161 . . 0.295 . 0.042 0.159 . . . . . . 1 1538 10 1/0 0,209,255 +. 1 145356766 C T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution missense exon GRCh37 145356766 145356766 Chr1(GRCh37):g.145356766C>T 3481 3481 NM_001351372.1:c.3481C>T p.Pro1161Ser p.Pro1161Ser 27 -5 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.979797 3.46935 0.00427961 Cryptic Acceptor Strongly Activated 145356771 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 0.000147 0.000606 0.000123 0.000000 0.000000 0.000388 0.000000 0.000000 0.000000 0.000606 10 7 1 0 0 2 0 0 0 67902 11556 8128 1194 8132 5154 27652 3986 2100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 7 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.205 0.125 P Pro CCC 0.328 S Ser TCC 0.220 1161 11 4 Rabbit -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.48 IV.32 176 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon69:c.C8668T:p.P2890S . . . . 0.105960265 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2412 -0.523 -0.241 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 NBPF10 NBPF25P . . . 0.000 0.038 . . . . . . . . . 0 . . . . . . T 0.002 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.080000 A6NDV3 . . . . . . . . . 0.0003 0.0001 0.0001 0 0 0 0 0 0.0004 0.0007 0.0002 0 0 0 0 0 0 . . 0.246 . 0.159 0.159000 . . 0.080000 . . 1.0E-176 0.827 0.298 . 0.161 . . 0.295 . 0.042 0.159 . . . . . . 1 1538 10 1/0 0,209,255 +. 1 145356766 C T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145356766 145356766 Chr1(GRCh37):g.145356766C>T 3092+3086 3092+3086 NM_001277444.1:c.3092+3086C>T p.? p.? 24 24 613999 3086 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 Cryptic Acceptor Strongly Activated 145356771 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 0.000147 0.000606 0.000123 0.000000 0.000000 0.000388 0.000000 0.000000 0.000000 0.000606 10 7 1 0 0 2 0 0 0 67902 11556 8128 1194 8132 5154 27652 3986 2100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 7 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.205 0.125 176 PASS . . . . . . . . . . . ENSG00000163386:ENST00000342960:exon69:c.C8668T:p.P2890S . . . . 0.105960265 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2412 -0.523 -0.241 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 NBPF10 NBPF25P . . . 0.000 0.038 . . . . . . . . . 0 . . . . . . T 0.002 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000342960 . . . 0.080000 A6NDV3 . . . . . . . . . 0.0003 0.0001 0.0001 0 0 0 0 0 0.0004 0.0007 0.0002 0 0 0 0 0 0 . . 0.246 . 0.159 0.159000 . . 0.080000 . . 1.0E-176 0.827 0.298 . 0.161 . . 0.295 . 0.042 0.159 . . . . . . 1 1538 10 1/0 0,209,255 +. 1 145356795 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145356795 145356795 Chr1(GRCh37):g.145356795A>T 8672+25 8672+25 NM_001039703.4:c.8672+25A>T p.? p.? 69 69 614000 25 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.967377 3.57506 0 0.000605 0.000340 0.000836 0.000000 0.000000 0.001404 0.000433 0.006608 0.000000 0.006608 23 1 6 0 0 7 6 3 0 38028 2938 7178 954 6512 4984 13850 454 1158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 6 0 0 7 6 3 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transversion A T A>T 0.146 0.367 180 PASS . . . . . . . . . . . . . . . . 0.11409396 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.2455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0006 0.0008 0 0 0.0066 0.0004 0 0.0014 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 1 145356795 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145356795 145356795 Chr1(GRCh37):g.145356795A>T 3485+25 3485+25 NM_001351372.1:c.3485+25A>T p.? p.? 27 27 25 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.967377 3.57506 0 0.000605 0.000340 0.000836 0.000000 0.000000 0.001404 0.000433 0.006608 0.000000 0.006608 23 1 6 0 0 7 6 3 0 38028 2938 7178 954 6512 4984 13850 454 1158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 6 0 0 7 6 3 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transversion A T A>T 0.146 0.367 180 PASS . . . . . . . . . . . . . . . . 0.11409396 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.2455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0006 0.0008 0 0 0.0066 0.0004 0 0.0014 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 1 145356795 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145356795 145356795 Chr1(GRCh37):g.145356795A>T 3092+3115 3092+3115 NM_001277444.1:c.3092+3115A>T p.? p.? 24 24 613999 3115 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 0.000605 0.000340 0.000836 0.000000 0.000000 0.001404 0.000433 0.006608 0.000000 0.006608 23 1 6 0 0 7 6 3 0 38028 2938 7178 954 6512 4984 13850 454 1158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 6 0 0 7 6 3 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transversion A T A>T 0.146 0.367 180 PASS . . . . . . . . . . . . . . . . 0.11409396 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.2455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0006 0.0008 0 0 0.0066 0.0004 0 0.0014 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 1 145358190 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145358190 145358190 Chr1(GRCh37):g.145358190G>C 8846-114 8846-114 NM_001039703.4:c.8846-114G>C p.? p.? 71 70 614000 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.000 -0.682 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.4961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145358190 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145358190 145358190 Chr1(GRCh37):g.145358190G>C 3659-114 3659-114 NM_001351372.1:c.3659-114G>C p.? p.? 29 28 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.000 -0.682 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.4961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145358190 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145358190 145358190 Chr1(GRCh37):g.145358190G>C 3092+4510 3092+4510 NM_001277444.1:c.3092+4510G>C p.? p.? 24 24 613999 4510 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 transversion G C G>C 0.000 -0.682 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.4961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145362876 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145362876 145362876 Chr1(GRCh37):g.145362876A>T 9578-103 9578-103 NM_001039703.4:c.9578-103A>T p.? p.? 77 76 614000 -103 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 7.63734 0 Cryptic Acceptor Strongly Activated 145362884 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.059 0.205 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.1841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.48 0.34 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145362876 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145362876 145362876 Chr1(GRCh37):g.145362876A>T 3767+4464 3767+4464 NM_001351372.1:c.3767+4464A>T p.? p.? 29 29 4464 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 Cryptic Acceptor Strongly Activated 145362884 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.059 0.205 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.1841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.48 0.34 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145362876 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145362876 145362876 Chr1(GRCh37):g.145362876A>T 3093-5565 3093-5565 NM_001277444.1:c.3093-5565A>T p.? p.? 25 24 613999 -5565 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 Cryptic Acceptor Strongly Activated 145362884 1.77725 0.000307 72.9301 2.75002 0.010401 77.812 transversion A T A>T 0.059 0.205 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.1841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.48 0.34 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 145362926 T C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145362926 145362926 Chr1(GRCh37):g.145362926T>C 9578-53 9578-53 NM_001039703.4:c.9578-53T>C p.? p.? 77 76 614000 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 transition T C T>C 0.079 0.205 228 PASS . . . . . . . . . . . . . . . . 0.23880596 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.1237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.45 0.3 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +. 1 145362926 T C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145362926 145362926 Chr1(GRCh37):g.145362926T>C 3767+4514 3767+4514 NM_001351372.1:c.3767+4514T>C p.? p.? 29 29 4514 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 transition T C T>C 0.079 0.205 228 PASS . . . . . . . . . . . . . . . . 0.23880596 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.1237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.45 0.3 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +. 1 145362926 T C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145362926 145362926 Chr1(GRCh37):g.145362926T>C 3093-5515 3093-5515 NM_001277444.1:c.3093-5515T>C p.? p.? 25 24 613999 -5515 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 transition T C T>C 0.079 0.205 228 PASS . . . . . . . . . . . . . . . . 0.23880596 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.1237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.45 0.3 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61813368 rs61813368 . . 1 1538 10 1/0 0,255,255 +. 1 145362995 A G - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution synonymous exon GRCh37 145362995 145362995 Chr1(GRCh37):g.145362995A>G 9594 9594 NM_001039703.4:c.9594A>G p.Gln3198= p.Gln3198Gln 77 614000 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.012 0.205 Q Gln CAA 0.256 Q Gln CAG 0.744 3198 230 PASS . . . . . . . . . . . . . . . . 0.24390244 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.1006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.15 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,247,255 +. 1 145362995 A G - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145362995 145362995 Chr1(GRCh37):g.145362995A>G 3767+4583 3767+4583 NM_001351372.1:c.3767+4583A>G p.? p.? 29 29 4583 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.012 0.205 230 PASS . . . . . . . . . . . . . . . . 0.24390244 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.1006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.15 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,247,255 +. 1 145362995 A G - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145362995 145362995 Chr1(GRCh37):g.145362995A>G 3093-5446 3093-5446 NM_001277444.1:c.3093-5446A>G p.? p.? 25 24 613999 -5446 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.012 0.205 230 PASS . . . . . . . . . . . . . . . . 0.24390244 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.1006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.15 182 ENSG00000163386 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs61813369 rs61813369 . . 1 1538 10 1/0 0,247,255 +. 1 145363055 A T - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145363055 145363055 Chr1(GRCh37):g.145363055A>T 9629+25 9629+25 NM_001039703.4:c.9629+25A>T p.? p.? 77 77 614000 25 5' 87.304 VIII.64 0.967377 3.26654 87.304 VIII.64 0.967377 III.97 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 6 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.256 0.205 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.0439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.38 0.12 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . 0 . 0 . . . . 0 . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145363055 A T - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145363055 145363055 Chr1(GRCh37):g.145363055A>T 3767+4643 3767+4643 NM_001351372.1:c.3767+4643A>T p.? p.? 29 29 4643 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 6 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.256 0.205 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.0439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.38 0.12 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . 0 . 0 . . . . 0 . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 145363055 A T - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145363055 145363055 Chr1(GRCh37):g.145363055A>T 3093-5386 3093-5386 NM_001277444.1:c.3093-5386A>T p.? p.? 25 24 613999 -5386 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 6 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.256 0.205 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.0439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.38 0.12 182 ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . 0 . 0 . . . . 0 . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs879915706 1 145364452 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145364452 145364452 Chr1(GRCh37):g.145364452G>C 9803-114 9803-114 NM_001039703.4:c.9803-114G>C p.? p.? 79 78 614000 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 rs879915706 no no 0 0.000000 0 transversion G C G>C 0.000 -1.247 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.6037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879915706 1 145364452 G C - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145364452 145364452 Chr1(GRCh37):g.145364452G>C 3768-3989 3768-3989 NM_001351372.1:c.3768-3989G>C p.? p.? 30 29 -3989 3' 92.7607 9.45065 0.983696 13.3242 92.7607 9.45065 0.983696 13.3242 0 rs879915706 no no 0 0.000000 0 transversion G C G>C 0.000 -1.247 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.6037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879915706 1 145364452 G C - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145364452 145364452 Chr1(GRCh37):g.145364452G>C 3093-3989 3093-3989 NM_001277444.1:c.3093-3989G>C p.? p.? 25 24 613999 -3989 3' 92.7607 9.45065 0.983009 13.8464 92.7607 9.45065 0.983009 13.8464 0 rs879915706 no no 0 0.000000 0 transversion G C G>C 0.000 -1.247 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.6037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781953423 1 145368432 C A - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution intron GRCh37 145368432 145368432 Chr1(GRCh37):g.145368432C>A 10419-9 10419-9 NM_001039703.4:c.10419-9C>A p.? p.? 84 83 614000 -9 3' 92.7607 9.45065 0.983009 14.4767 92.5747 VIII.87 0.973794 XII.33 -0.0271406 rs781953423 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 274604 23342 34394 10094 18822 30774 125196 25554 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.004 0.609 190 PASS . . . . . . . . . . . . . . . . 0.13445379 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.2745 . . . . . . . . 3.949e-05 . . . 0.0002 4.53e-05 8.649e-05 0 0 0 0 6.061e-05 0.0001 2.892e-05 8.919e-05 0 0 0 0 6.095e-05 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781953423 . . . . . . . . . . . . . . . . . . . . 0.0001 0.034 . . . . . . . 0 4.099e-06 0 0 0 0 0 0 3.249e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs781953423 1 145368432 C A - NBPF26 49571 NBPF member 26 NM_001351372.1 1 5666 4011 NP_001338301.1 substitution intron GRCh37 145368432 145368432 Chr1(GRCh37):g.145368432C>A 3768-9 3768-9 NM_001351372.1:c.3768-9C>A p.? p.? 30 29 -9 3' 92.7607 9.45065 0.983696 13.3242 92.5747 VIII.87 0.973272 11.1408 -0.0275481 rs781953423 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 274604 23342 34394 10094 18822 30774 125196 25554 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.004 0.609 190 PASS . . . . . . . . . . . . . . . . 0.13445379 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.2745 . . . . . . . . 3.949e-05 . . . 0.0002 4.53e-05 8.649e-05 0 0 0 0 6.061e-05 0.0001 2.892e-05 8.919e-05 0 0 0 0 6.095e-05 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781953423 . . . . . . . . . . . . . . . . . . . . 0.0001 0.034 . . . . . . . 0 4.099e-06 0 0 0 0 0 0 3.249e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs781953423 1 145368432 C A - NBPF9 31991 Neuroblastoma breakpoint family, member 9 NM_001277444.1 1 5032 3336 NP_001264373.1 substitution intron GRCh37 145368432 145368432 Chr1(GRCh37):g.145368432C>A 3093-9 3093-9 NM_001277444.1:c.3093-9C>A p.? p.? 25 24 613999 -9 3' 92.7607 9.45065 0.983009 13.8464 92.5747 VIII.87 0.973794 11.663 -0.0271406 rs781953423 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 274604 23342 34394 10094 18822 30774 125196 25554 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.004 0.609 190 PASS . . . . . . . . . . . . . . . . 0.13445379 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.2745 . . . . . . . . 3.949e-05 . . . 0.0002 4.53e-05 8.649e-05 0 0 0 0 6.061e-05 0.0001 2.892e-05 8.919e-05 0 0 0 0 6.095e-05 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000163386 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781953423 . . . . . . . . . . . . . . . . . . . . 0.0001 0.034 . . . . . . . 0 4.099e-06 0 0 0 0 0 0 3.249e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs1043749 1 145368473 G C - NBPF10 31992 Neuroblastoma breakpoint family, member 10 NM_001039703.4 1 10697 10662 NP_001034792.3 substitution missense exon GRCh37 145368473 145368473 Chr1(GRCh37):g.145368473G>C 10451 10451 NM_001039703.4:c.10451G>C p.Arg3484Pro p.Arg3484Pro 84 614000 33 3' 92.7607 9.45065 0.983009 14.4767 92.7607 9.45065 0.983009 14.0766 0 DUF1220 rs1043749 yes no Frequency 1 0.000000 0 0.000209 0.000000 0.001279 0.000000 0.000227 0.000034 0.000032 0.000042 0.000478 0.001279 56 0 43 0 4 1 4 1 3 267600 21146 33620 10088 17636 29766 125230 23840 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 0 43 0 4 1 4 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.651 R Arg CGT 0.082 P Pro CCT 0.283 3484 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 229 PASS . . . . . . . . . . . . . UNKNOWN . . 0.23923445 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 209.0 . . . . . . . . . . -2.1033 . . . . . . . . 6.314e-05 . . . 9.984e-05 7.762e-05 8.693e-05 0.0002 0 2.375e-05 0 0.0002 0 4.732e-05 8.962e-05 0 0 1.841e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.44 0.3 182 ENSG00000163386 . NBPF9 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET 1 rs1043749 . . . . . . . . . . . . II.25 . . 0.732 -1.09 . 1.000000 . . . . . . . . . . 0 0.0002 0.0013 0 6.072e-05 0 8.996e-06 0.0006 3.36e-05 0 0.0002 0 0 0.0026 0.0003 0.0002 0 . . . . -1.807 -1.807000 . . 1.000000 . . 1.0E-229 . . . . . . . . . -1.807 . . rs1043749 rs1043749 rs1043749 rs1043749 1 1538 10 1/0 0,206,255 +rs1043749 (chr1:145368473 G/C) 1 145368473 G C Transcript NM_001351372.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) NBPF26 +rs1043749 (chr1:145368473 G/C) 1 145368473 G C Transcript NM_001277444.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) NBPF9 +rs141350599 1 145555699 G A - ANKRD35 26323 Ankyrin repeat domain 35 NM_144698.4 1 3363 3006 NP_653299.4 Q8N283 substitution missense exon GRCh37 145555699 145555699 Chr1(GRCh37):g.145555699G>A 47 47 NM_144698.4:c.47G>A p.Arg16Lys p.Arg16Lys 2 8 3' 74.3224 5.04875 0.03872 7.55421 74.3224 5.04875 0.020473 7.46256 -0.157085 rs141350599 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.003142 0.000837 0.002421 0.003785 0.000000 0.000113 0.005241 0.000957 0.004484 0.005241 794 19 72 34 0 3 616 24 26 252688 22698 29738 8984 16412 26450 117540 25068 5798 0.000024 0.000000 0.000000 0.000223 0.000000 0.000000 0.000017 0.000000 0.000345 3 0 0 1 0 0 1 0 1 788 19 72 32 0 3 614 24 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8558 4405 12963 42 1 43 0.00488372 0.000226963 0.00330617 0.00488372 0.000226963 0.00330617 54 transition G A G>A 0.992 -0.117 R Arg AGA 0.205 K Lys AAA 0.425 16 11 6 Little brown bat 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 241.65 0.00 Tolerated 0.72 III.97 255 PASS . 0.0023 0.01 . 0.004 . 0.0014 0.0029 . 0.005 . . ANKRD35:uc001eob.1:exon2:c.G47A:p.R16K ANKRD35:NM_144698:exon2:c.G47A:p.R16K . . 0.98101264 . . @ 155 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 158.0 . . . 0.0002 0.0033 0.0049 0.0002 0.0033 0.0049 . -0.6086 -0.405 -0.609 c . . . . . 3.126e-03 . . . 0.0004 0.0030 0.0035 0 0.0005 0.0050 0.0046 8.258e-05 0.0004 0.0032 0.0034 0 0.0005 0.0051 0.0016 8.322e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.149 0.0014 . . . 0.19 0.41 182 ENSG00000198483 ANKRD35 ANKRD35 . . . 1.000 0.473 . 311 0.00478638 64976 304 0.00506785 59986 Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.344 . . . HOM 0.61 rs141350599 0.011 0.007 . . . . . 0.0022893772893772895 0.0 0.0055248618784530384 0.0 0.00395778364116095 VIII.59 2.68E-4 . V.99 0.277 . 0.270000 Q8N283 . . . 0.003306 . . . . . 0.0008 0.0032 0.0024 0.0038 0 0.0009 0.0054 0.0048 0.0001 0.0009 0.0025 0.0024 0.0033 0 0.0011 0.0039 0.0031 . . 0.185 . 0.126 0.126000 . . 0.270000 . . 1.0E-255 0.996 0.391 . 0.697 . . 0.162 . 0.147 0.126 . 0.011 . . rs141350599 rs141350599 1 1538 255 1.I 0,0,255 +. (chr1:146024431 G/T) 1 146024431 G T Not on a known gene +rs7415277 (chr1:146034211 C/G) 1 146034211 C G Not on a known gene +. (chr1:146034294 G/C) 1 146034294 G C Not on a known gene +rs61807284 (chr1:146035833 C/G) 1 146035833 C G Not on a known gene +rs61807291 (chr1:146036793 A/G) 1 146036793 A G Not on a known gene +rs61807293 (chr1:146036843 T/A) 1 146036843 T A Not on a known gene +. (chr1:146037495 A/G) 1 146037495 A G Not on a known gene +. (chr1:146037571 T/G) 1 146037571 T G Not on a known gene +. (chr1:146037602 G/T) 1 146037602 G T Not on a known gene +. (chr1:146038258 T/C) 1 146038258 T C Not on a known gene +rs12049079 (chr1:146040743 C/T) 1 146040743 C T Not on a known gene +rs9437889 (chr1:146040823 C/A) 1 146040823 C A Not on a known gene +rs9437892 (chr1:146040956 G/T) 1 146040956 G T Not on a known gene +rs28734780 (chr1:146040970 C/A) 1 146040970 C A Not on a known gene +. (chr1:146046928 T/C) 1 146046928 T C Not on a known gene +rs9970097 (chr1:146046967 A/C) 1 146046967 A C Not on a known gene +rs9331715 (chr1:146047109 G/A) 1 146047109 G A Not on a known gene +. (chr1:146048233 C/T) 1 146048233 C T Not on a known gene +. (chr1:146048241 G/C) 1 146048241 G C Not on a known gene +. (chr1:146048334 C/T) 1 146048334 C T Not on a known gene +. (chr1:146049119 G/A) 1 146049119 G A Not on a known gene +. (chr1:146049137 C/G) 1 146049137 C G Not on a known gene +. (chr1:146049153 T/A) 1 146049153 T A Not on a known gene +. (chr1:146049251 G/C) 1 146049251 G C Not on a known gene +. (chr1:146049279 G/C) 1 146049279 G C Not on a known gene +. (chr1:146049288 G/A) 1 146049288 G A Not on a known gene +rs781952367 (chr1:146053290 C/T) 1 146053290 C T Not on a known gene +rs61804598 (chr1:146053318 G/A) 1 146053318 G A Not on a known gene +rs28480670 (chr1:146054384 C/T) 1 146054384 C T Not on a known gene +rs28566856 (chr1:146054419 C/G) 1 146054419 C G Not on a known gene +rs200774265 (chr1:146057252 G/T) 1 146057252 G T Not on a known gene +rs782644255 (chr1:146057254 T/C) 1 146057254 T C Not on a known gene +rs6680516 (chr1:146057368 A/G) 1 146057368 A G Not on a known gene +rs9437935 (chr1:146079665 A/G) 1 146079665 A G No Alamut gene - other known genes: FAM108A11P FAM108A11P +rs9437936 (chr1:146079834 G/C) 1 146079834 G C No Alamut gene - other known genes: FAM108A11P FAM108A11P +rs781799292 (chr1:146215204 G/C) 1 146215204 G C Not on a known gene +rs782047622 (chr1:146216915 A/G) 1 146216915 A G Not on a known gene +. (chr1:146218123 T/C) 1 146218123 T C Not on a known gene +. (chr1:146218289 T/G) 1 146218289 T G Not on a known gene +. (chr1:146218404 A/G) 1 146218404 A G Not on a known gene +. (chr1:146218480 T/G) 1 146218480 T G Not on a known gene +rs368838510 (chr1:146218511 G/T) 1 146218511 G T Not on a known gene +. (chr1:146223208 A/G) 1 146223208 A G Not on a known gene +. (chr1:146224427 T/C) 1 146224427 T C Not on a known gene +. (chr1:146224786 A/G) 1 146224786 A G Not on a known gene +. (chr1:146229501 A/G) 1 146229501 A G Not on a known gene +. (chr1:146231077 A/G) 1 146231077 A G Not on a known gene +. (chr1:146231857 G/A) 1 146231857 G A Not on a known gene +. (chr1:146233292 G/C) 1 146233292 G C Not on a known gene +. (chr1:146238495 C/T) 1 146238495 C T Not on a known gene +. (chr1:146239856 A/G) 1 146239856 A G Not on a known gene +. (chr1:146240455 T/C) 1 146240455 T C Not on a known gene +. (chr1:146240494 A/C) 1 146240494 A C Not on a known gene +. (chr1:146240636 G/A) 1 146240636 G A Not on a known gene +. (chr1:146248135 C/T) 1 146248135 C T Not on a known gene +. (chr1:146250942 A/C) 1 146250942 A C Not on a known gene +rs71253715 (chr1:146253035 C/T) 1 146253035 C T Not on a known gene +rs587749188 1 146395471 C G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146395471 146395471 Chr1(GRCh37):g.146395471C>G 130 130 NM_001278141.1:c.130C>G p.Leu44Val p.Leu44Val 7 608607 -46 5' 73.3142 5.95993 0.947281 1.52865 73.3142 5.95993 0.947281 1.71806 0 New Donor Site 146395470 0.48099 0.003823 62.0499 rs587749188 yes no Frequency/1000G 2 C 0.005591 G 28 0.005591 0.002300 0.001000 0.009900 0.009900 0.005800 0.002414 0.007401 0.000519 0.000000 0.000232 0.000000 0.002828 0.001401 0.001322 0.007401 189 79 6 0 2 0 93 6 3 78300 10674 11554 1620 8618 6394 32888 4282 2270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 189 79 6 0 2 0 93 6 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.489 L Leu CTA 0.070 V Val GTA 0.114 44 11 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Not scored 0.0 0.0 178 PASS . . . . . 0.0023 0.0056 0.0058 0.0099 0.0099 0.001 . . NBPF12:NM_001278141:exon7:c.C130G:p.L44V . . 0.10891089 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.055 . . 101.0 . . . . . . . . . . -1.6209 -1.764 -1.621 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.053 0.0056 . . . 0.38 0.27 182 ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . T 0.002 0.001 . . 37 . 0.003 . . 0.408 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.110 . 0.213 . LowAF 1 rs587749188 . . . . . . . . . . . . IV.31 . ENST00000309471 I.44 -2.89 . 0.240000 . . . . . . 0.002 . . . 0 3.377e-05 9.109e-05 0 0 0 0 0.0006 0 0.0157 0.0098 0.0087 0 0.0021 0.0020 0.0107 0.0031 . . 0.924 . -1.567 -1.567000 . . 1.000000 . . 1.0E-178 0.000 0.063 . 0.016 0.001 . 0.003 . 0.001 -1.567 -3.380 . . . rs4323762 rs4323762 1 1538 10 1/0 0,227,255 +. 1 146404536 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146404536 146404536 Chr1(GRCh37):g.146404536A>G 1092-53 1092-53 NM_001278141.1:c.1092-53A>G p.? p.? 14 13 608607 -53 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.63853 0 transition A G A>G 0.000 0.367 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . . . . . . . . . -0.3774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs3881692 rs3881692 1 1538 10 1/0 0,252,255 +. 1 146404538 G A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146404538 146404538 Chr1(GRCh37):g.146404538G>A 1092-51 1092-51 NM_001278141.1:c.1092-51G>A p.? p.? 14 13 608607 -51 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.52572 0 New Acceptor Site 146404540 5.84301 0.012964 72.9985 transition G A G>A 0.000 -0.763 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . -0.6106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.14 182 ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs112459449 rs112459449 1 1538 10 1/0 0,255,255 +. 1 146410851 C T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146410851 146410851 Chr1(GRCh37):g.146410851C>T 1905-33 1905-33 NM_001278141.1:c.1905-33C>T p.? p.? 19 18 608607 -33 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.76774 0 transition C T C>T 0.000 -0.360 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.4451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.22 0.12 182 ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs3897451 rs3897451 1 1538 10 1/0 0,249,255 +. 1 146410929 G C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146410929 146410929 Chr1(GRCh37):g.146410929G>C 1950 1950 NM_001278141.1:c.1950G>C p.Gln650His p.Gln650His 19 608607 46 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.56338 0 transversion G C G>C 0.000 -0.521 Q Gln CAG 0.744 H His CAC 0.587 650 11 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Not scored 0.0 0.0 185 PASS . . . . . . . . . . . . NBPF12:uc031poi.1:exon19:c.G1950C:p.Q650H NBPF12:NM_001278141:exon19:c.G1950C:p.Q650H . . 0.125 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.402 . @ . . . . . 1 0.316 . . 64.0 . . . . . . . . . . -0.9962 -1.232 -0.996 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.072 @ . . . . . . ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.008 . . 0.465 . . . 0.271 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.042 . 0.043 . LowAF 0.06 . . . . . . . . . . . . . II.97 . . I.32 -1.89 . 0.300000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.145 -0.145000 . . 0.300000 . . 1.0E-185 0.002 0.151 . 0.158 0.155 . 0.061 . 0.268 -0.145 -0.677 . . . . . 1 1538 10 1/0 0,247,255 +rs369005340 1 146412059 C T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146412059 146412059 Chr1(GRCh37):g.146412059C>T 2120-77 2120-77 NM_001278141.1:c.2120-77C>T p.? p.? 20 19 608607 -77 3' 91.8347 5.70008 0.850282 7.03708 91.8347 5.70008 0.850282 6.80492 0 rs369005340 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7470 1578 234 52 138 0 3314 1874 280 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes transition C T C>T 0.000 -0.844 212 PASS . . . . . . . . . . . . . . . . 0.19512194 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.6292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.27 0.3 182 ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369005340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs9331715 rs9331715 1 1538 10 1/0 0,255,255 +. 1 146412201 T G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146412201 146412201 Chr1(GRCh37):g.146412201T>G 2185 2185 NM_001278141.1:c.2185T>G p.Ser729Ala p.Ser729Ala 20 608607 -8 5' 81.9751 8.87834 0.96301 0 81.9751 8.87834 0.96301 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5556 616 868 170 364 738 2588 70 142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 120 Exomes transversion T G T>G 0.000 -1.005 S Ser TCC 0.220 A Ala GCC 0.403 729 11 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.23 IV.32 234 PASS . . . . . . . . . . . . . NBPF12:NM_001278141:exon20:c.T2185G:p.S729A . . 0.25862068 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.004 . . 58.0 . . . . . . . . . . -1.6701 -1.783 -1.670 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.105 @ . . . 0.62 0.62 182 ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.157 0.006 . . 37 . 0.005 . . 0.465 . . . . 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 . . . . . . 0.023 . 0.182 . HET 1 . . . . . . . . . . . . . I.87 . . 0.807 -0.739 . 1.000000 Q86T75-2 . . . . . 0.002 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.558 . -1.024 -1.024000 . . 1.000000 . . 1.0E-234 0.028 0.201 . 0.043 . . 0.057 . 0.003 -1.024 . . . . rs9970097 rs9970097 1 1538 10 1/0 0,255,255 +. 1 146412839 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146412839 146412839 Chr1(GRCh37):g.146412839T>C 2359 2359 NM_001278141.1:c.2359T>C p.Ser787Pro p.Ser787Pro 21 608607 -40 5' 71.4448 7.13302 0.703233 2.38205 71.4448 7.13302 0.703233 2.52328 0 transition T C T>C 0.000 -0.198 S Ser TCT 0.185 P Pro CCT 0.283 787 11 7 Dolphin -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.13 IV.32 206 PASS . . . . . . . . . . . . . NBPF12:NM_001278141:exon21:c.T2359C:p.S787P . . 0.17567568 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.130 . . 148.0 . . . . . . . . . . -1.0724 -1.259 -1.072 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.112 @ . . . . . . ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.022 0.001 . . 37 . 0.077 . . 0.393 . . . 0.520 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.304 . . 0.351 . . . . . . 3 . . . . . . 0.055 . 0.406 . HET 0.01 . . . . . . . . . . . . . II.93 . . 0.801 -0.539 . 0.010000 Q86T75-2 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.235 -0.235000 . . 0.010000 . . 1.0E-206 0.004 0.165 . 0.016 0.002 . 0.313 . 0.063 -0.235 0.397 . . . . . 1 1538 10 1/0 0,216,255 +. 1 146419393 C G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution synonymous exon GRCh37 146419393 146419393 Chr1(GRCh37):g.146419393C>G 2664 2664 NM_001278141.1:c.2664C>G p.Pro888= p.Pro888Pro 24 608607 -3 5' 95.6376 X.36 0.996803 IV.92 92.583 10.0326 0.996471 4.56674 -0.0307753 Cryptic Donor Strongly Activated 146419388 0.023033 61.3073 4.40274 0.588677 74.0033 0.000069 0.001027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001027 1 1 0 0 0 0 0 0 0 14582 974 2858 328 2042 2744 4984 172 480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 74 Exomes transversion C G C>G 0.000 -0.360 P Pro CCC 0.328 P Pro CCG 0.115 888 184 PASS . . . . . . . . . . . . . NBPF12:NM_001278141:exon24:c.C2664G:p.P888P . . 0.12307692 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.128 . @ . . . . . 1 0.017 . . 65.0 . . . . . . . . . . -0.3887 -0.234 -0.389 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.095 @ . . . . . . ENSG00000186275 NBPF12 NBPF12 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0.014 . . . 0.006 . . . 0.0010 6.858e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . . . . . . . . 9.999999999999999E-185 0.015 0.189 . 0.083 0.064 . 0.050 . 0.039 . -1.598 . . . . . 1 1538 10 1/0 0,247,255 +. 1 146419397 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution splice site GRCh37 146419397 146419397 Chr1(GRCh37):g.146419397T>C 2666+2 2666+2 NM_001278141.1:c.2666+2T>C p.? p.? 24 24 608607 2 5' 95.6376 X.36 0.996803 IV.92 88.5047 0 0 0 -0.691528 0.000068 0.001008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001008 1 1 0 0 0 0 0 0 0 14802 992 2890 346 2086 2744 5074 174 496 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 72 Exomes transition T C T>C 0.000 -0.279 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 69.0 . . . . . . . . . . -0.3343 -0.809 -0.334 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing splicing splicing . . 0.091 @ . . . 0.28 0.13 182 ENSG00000186275 NBPF12 NBPF12 . . NM_001278141:exon24:c.2666+2T>C 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . 0.583 -1.17 . . . 0.9858 0.432 . . . . . . . 0.0010 6.756e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.013 . -0.357 -0.357000 . . . . . 1.0E-188 0.020 0.195 . 0.090 0.129 . 0.298 . 0.267 -0.357 0.158 . . . . . 1 1538 10 1/0 0,245,255 +. 1 146422388 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146422388 146422388 Chr1(GRCh37):g.146422388T>C 2891+1426 2891+1426 NM_001278141.1:c.2891+1426T>C p.? p.? 26 26 608607 1426 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition T C T>C 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.39130434 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.7797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146422457 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146422457 146422457 Chr1(GRCh37):g.146422457A>G 2891+1495 2891+1495 NM_001278141.1:c.2891+1495A>G p.? p.? 26 26 608607 1495 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition A G A>G 0.000 -0.360 233 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon27:c.A3186G:p.Q1062Q LOC100288142:uc021ott.2:exon103:c.A11397G:p.Q3799Q NBPF20:NM_001278267:exon103:c.A11403G:p.Q3801Q . . 0.25396827 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.4242 -0.225 -0.424 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . 0.18 0.13 182 ENSG00000186275 LOC100288142 NBPF20 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0000000000000001E-233 0.303 0.251 . 0.062 . . 0.046 . 0.272 . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146422488 C T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146422488 146422488 Chr1(GRCh37):g.146422488C>T 2891+1526 2891+1526 NM_001278141.1:c.2891+1526C>T p.? p.? 26 26 608607 1526 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 Cryptic Acceptor Strongly Activated 146422493 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 transition C T C>T 0.000 -0.440 190 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon27:c.C3217T:p.P1073S LOC100288142:uc021ott.2:exon103:c.C11428T:p.P3810S NBPF20:NM_001278267:exon103:c.C11434T:p.P3812S . . 0.1369863 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.446 . @ . . . . . 1 0.270 . . 73.0 . . . . . . . . . . -0.8896 -1.174 -0.890 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.091 @ . . . . . . ENSG00000186275 LOC100288142 NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.168 . . 0.291 . . . 0.647 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . 0.235 . LowAF . . . . . . . . . . . . . . . . ENST00000442909 0.592 -1.18 . 0.060000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.492 -0.492000 . . 0.060000 . . 1.0E-190 0.253 0.247 . 0.140 . . 0.264 . 0.267 -0.492 . . . . . . 1 1538 10 1/0 0,243,255 +. 1 146427153 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146427153 146427153 Chr1(GRCh37):g.146427153T>C 2891+6191 2891+6191 NM_001278141.1:c.2891+6191T>C p.? p.? 26 26 608607 6191 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition T C T>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.47368422 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.5554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146427222 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146427222 146427222 Chr1(GRCh37):g.146427222A>G 2891+6260 2891+6260 NM_001278141.1:c.2891+6260A>G p.? p.? 26 26 608607 6260 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition A G A>G 0.000 0.286 225 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon33:c.A3918G:p.Q1306Q . NBPF20:NM_001278267:exon109:c.A12135G:p.Q4045Q . . 0.22857143 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . -0.4234 -0.242 -0.423 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF20 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-225 0.436 0.262 . . . . 0.242 . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 146427253 C T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146427253 146427253 Chr1(GRCh37):g.146427253C>T 2891+6291 2891+6291 NM_001278141.1:c.2891+6291C>T p.? p.? 26 26 608607 6291 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 Cryptic Acceptor Strongly Activated 146427258 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 transition C T C>T 0.004 -0.602 193 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon33:c.C3949T:p.P1317S . NBPF20:NM_001278267:exon109:c.C12166T:p.P4056S . . 0.14285715 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.306 . @ . . . . . 1 0.054 . . 77.0 . . . . . . . . . . -1.0196 -1.269 -1.020 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.069 . . 0.377 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . 0.199 . LowAF . . . . . . . . . . . . . . . . ENST00000442909 . . . 0.210000 . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.575 -0.575000 . . 0.210000 . . 1.0E-193 0.328 0.253 . 0.130 . . 0.062 . 0.036 -0.575 . . . . . . 1 1538 10 1/0 0,241,255 +. 1 146427282 A T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146427282 146427282 Chr1(GRCh37):g.146427282A>T 2891+6320 2891+6320 NM_001278141.1:c.2891+6320A>T p.? p.? 26 26 608607 6320 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion A T A>T 0.000 -0.763 184 PASS . . . . . . . . . . . . . . . . 0.12162162 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.5934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 1 146431918 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146431918 146431918 Chr1(GRCh37):g.146431918T>C 2891+10956 2891+10956 NM_001278141.1:c.2891+10956T>C p.? p.? 26 26 608607 10956 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition T C T>C 0.039 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.7496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146431987 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146431987 146431987 Chr1(GRCh37):g.146431987A>G 2891+11025 2891+11025 NM_001278141.1:c.2891+11025A>G p.? p.? 26 26 608607 11025 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transition A G A>G 0.268 0.125 212 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon39:c.A4650G:p.Q1550Q . . . . 0.19354838 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.2908 -0.212 -0.291 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-212 0.996 0.391 . . . . 0.242 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146432047 A T - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146432047 146432047 Chr1(GRCh37):g.146432047A>T 2891+11085 2891+11085 NM_001278141.1:c.2891+11085A>T p.? p.? 26 26 608607 11085 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion A T A>T 0.039 0.125 191 PASS . . . . . . . . . . . . . . . . 0.13953489 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146432808 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146432808 146432808 Chr1(GRCh37):g.146432808A>G 2892-10885 2892-10885 NM_001278141.1:c.2892-10885A>G p.? p.? 27 26 608607 -10885 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.52 0 transition A G A>G 0.000 0.609 242 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon40:c.A4801G:p.R1601G . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . -0.7580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.44 . . . . . . . . . . . . . III.78 . ENST00000442909 0.797 0.797 . 0.480000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.632 0.632000 . . 0.480000 . . 1.0E-242 . . . . . . . . . 0.632 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146436683 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146436683 146436683 Chr1(GRCh37):g.146436683T>C 2892-7010 2892-7010 NM_001278141.1:c.2892-7010T>C p.? p.? 27 26 608607 -7010 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.52 0 transition T C T>C 0.142 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.1519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146436752 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146436752 146436752 Chr1(GRCh37):g.146436752A>G 2892-6941 2892-6941 NM_001278141.1:c.2892-6941A>G p.? p.? 27 26 608607 -6941 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.52 0 transition A G A>G 0.236 0.125 244 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon45:c.A5382G:p.Q1794Q . NBPF20:NM_001278267:exon113:c.A12642G:p.Q4214Q . . 0.28787878 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.2710 -0.206 -0.271 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF20 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0000000000000001E-244 0.996 0.391 . . . . 0.242 . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146436772 G A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146436772 146436772 Chr1(GRCh37):g.146436772G>A 2892-6921 2892-6921 NM_001278141.1:c.2892-6921G>A p.? p.? 27 26 608607 -6921 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.52 0 transition G A G>A 0.169 0.125 175 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon45:c.G5402A:p.G1801D . NBPF20:NM_001278267:exon113:c.G12662A:p.G4221D . . 0.103896104 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 77.0 . . . . . . . . . . -0.8627 -1.084 -0.863 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF 0.56 . . . . . . . . . . . . . . . ENST00000442909 . . . 0.690000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.149 0.149000 . . 0.690000 . . 1.0E-175 0.998 0.411 . . . . 0.241 . . 0.149 . . . . . . 1 1538 10 1/0 0,238,255 +. 1 146443713 C A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146443713 146443713 Chr1(GRCh37):g.146443713C>A 2912 2912 NM_001278141.1:c.2912C>A p.Ala971Asp p.Ala971Asp 27 608607 21 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.04 0 transversion C A C>A 0.000 -1.409 A Ala GCT 0.263 D Asp GAT 0.461 971 11 2 Dolphin -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Tolerated 0.47 IV.32 255 PASS . . . . . . . . . . . . LOC100288142:uc021ott.2:exon116:c.C12974A:p.A4325D NBPF20:NM_001278267:exon116:c.C12980A:p.A4327D . . 0.71794873 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.017 . . 39.0 . . . . . . . . . . -1.6010 -1.711 -1.601 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.117 @ . . . . . . ENSG00000186275 LOC100288142 NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.004 . . 0.387 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.035 . 0.150 . HET 1 . . . . . . . . . . . . . 2.1428 . . I.27 -0.397 . 0.360000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.936 -1.936000 . . 0.360000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.047 . 0.003 -1.936 -2.227 . . . . . 1 1538 10 1/0 0,255,255 +. 1 146443744 A C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution synonymous exon GRCh37 146443744 146443744 Chr1(GRCh37):g.146443744A>C 2943 2943 NM_001278141.1:c.2943A>C p.Ser981= p.Ser981Ser 27 608607 52 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.83 0 Cryptic Acceptor Strongly Activated 146443753 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.000 -0.037 S Ser TCA 0.148 S Ser TCC 0.220 981 187 PASS . . . . . . . . . . . . LOC100288142:uc021ott.2:exon116:c.A13005C:p.S4335S NBPF20:NM_001278267:exon116:c.A13011C:p.S4337S . . 0.12962963 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.3277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 LOC100288142 NBPF20 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146443820 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146443820 146443820 Chr1(GRCh37):g.146443820T>C 3019 3019 NM_001278141.1:c.3019T>C p.Tyr1007His p.Tyr1007His 27 608607 -46 5' 74.2807 8.34018 0.667515 4.75703 74.2807 8.34018 0.667515 5.29597 0 transition T C T>C 0.000 0.770 Y Tyr TAC 0.562 H His CAC 0.587 1007 11 3 Western lowland gorilla 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Deleterious 0.02 IV.32 255 PASS . . . . . . . . . . . . LOC100288142:uc021ott.2:exon116:c.T13081C:p.Y4361H NBPF20:NM_001278267:exon116:c.T13087C:p.Y4363H . . 0.3253012 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 83.0 . . . . . . . . . . -0.6283 -0.869 -0.628 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.187 @ . . . . . . ENSG00000186275 LOC100288142 NBPF20 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.104 . . . HET 0.05 . . . . . . . . . . . . . IV.37 . . 0.963 0.963 . 0.070000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.464 0.464000 . . 0.070000 . . 1.0E-255 0.003 0.159 . 0.238 . . 0.305 . 0.173 0.464 . . . . . . 1 1538 10 1/0 0,254,255 +. 1 146448394 C A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146448394 146448394 Chr1(GRCh37):g.146448394C>A 3290-2471 3290-2471 NM_001278141.1:c.3290-2471C>A p.? p.? 30 29 608607 -2471 3' 83.2605 8.73937 0.14414 2.80968 83.2605 8.73937 0.14414 2.80968 0 transversion C A C>A 0.000 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.6111111 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 18.0 . . . . . . . . . . -1.4502 -1.702 -1.450 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.085 @ . . . 0.29 0.15 182 ENSG00000186275 . . . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . 0.692 -1.38 . 0.360000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.240 -2.240000 . . 0.360000 . . 1.0E-255 0.010 0.182 . 0.083 . . 0.295 . 0.271 -2.240 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146448425 A C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146448425 146448425 Chr1(GRCh37):g.146448425A>C 3290-2440 3290-2440 NM_001278141.1:c.3290-2440A>C p.? p.? 30 29 608607 -2440 3' 83.2605 8.73937 0.14414 2.80968 83.2605 8.73937 0.14414 2.80968 0 Cryptic Acceptor Strongly Activated 146448434 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.004 0.609 255 PASS . . . . . . . . . . . . . . . . 0.41379312 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.0063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146448501 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146448501 146448501 Chr1(GRCh37):g.146448501T>C 3290-2364 3290-2364 NM_001278141.1:c.3290-2364T>C p.? p.? 30 29 608607 -2364 3' 83.2605 8.73937 0.14414 2.80968 83.2605 8.73937 0.14414 2.80968 0 transition T C T>C 0.000 -0.279 252 PASS . . . . . . . . . . . . . . . . 0.31707317 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 41.0 . . . . . . . . . . -1.0124 -1.255 -1.012 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.085 @ . . . 0.21 0.21 182 ENSG00000186275 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . . . . 0.692 -1.38 . 0.100000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.301 -0.301000 . . 0.100000 . . 1.0000000000000001E-252 0.000 0.063 . 0.043 . . 0.066 . 0.016 -0.301 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146453967 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146453967 146453967 Chr1(GRCh37):g.146453967T>C 3623+1425 3623+1425 NM_001278141.1:c.3623+1425T>C p.? p.? 32 32 608607 1425 5' 87.304 VIII.64 0.955794 2.33845 87.304 VIII.64 0.955794 2.33845 0 transition T C T>C 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.6035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.26 182 ENSG00000186275 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146454036 A G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146454036 146454036 Chr1(GRCh37):g.146454036A>G 3623+1494 3623+1494 NM_001278141.1:c.3623+1494A>G p.? p.? 32 32 608607 1494 5' 87.304 VIII.64 0.955794 2.33845 87.304 VIII.64 0.955794 2.33845 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6167 Genomes transition A G A>G 0.130 0.125 235 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon67:c.A7971G:p.Q2657Q . . . . 0.26153848 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.3408 -0.213 -0.341 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . 0.246 . . . . . . . . 1.0E-235 0.994 0.380 . 0.062 . . 0.243 . 0.271 . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146457918 C A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146457918 146457918 Chr1(GRCh37):g.146457918C>A 3644 3644 NM_001278141.1:c.3644C>A p.Ala1215Asp p.Ala1215Asp 33 608607 21 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.04 0 transversion C A C>A 0.000 -2.054 A Ala GCT 0.263 D Asp GAT 0.461 1215 11 1 -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.036 . . 30.0 . . . . . . . . . . -1.5614 -1.808 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.093 @ . . . . . . ENSG00000186275 . NBPF10 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.009 . . 0.464 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.182 . HET 0.3 . . . . . . . . . . . . . . . . 0.557 -1.11 . 0.340000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.201 -2.201000 . . 0.340000 . . 1.0E-255 0.013 0.187 . 0.138 . . 0.126 . 0.272 -2.201 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146457949 A C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution synonymous exon GRCh37 146457949 146457949 Chr1(GRCh37):g.146457949A>C 3675 3675 NM_001278141.1:c.3675A>C p.Ser1225= p.Ser1225Ser 33 608607 52 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.83 0 Cryptic Acceptor Strongly Activated 146457958 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.000 -0.279 S Ser TCA 0.148 S Ser TCC 0.220 1225 191 PASS . . . . . . . . . . . . . . . . 0.13953489 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2456 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . NBPF10 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 146458025 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146458025 146458025 Chr1(GRCh37):g.146458025T>C 3751 3751 NM_001278141.1:c.3751T>C p.Tyr1251His p.Tyr1251His 33 608607 -46 5' 74.2807 8.34018 0.667515 4.75703 74.2807 8.34018 0.667515 5.29597 0 transition T C T>C 0.000 0.609 Y Tyr TAC 0.562 H His CAC 0.587 1251 11 1 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Not scored 0.0 0.0 242 PASS . . . . . . . . . . . . . . . . 0.28333333 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.330 . @ . . . . . 1 0.074 . . 60.0 . . . . . . . . . . -0.6937 -0.920 -0.694 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.171 @ . . . 0.39 0.35 182 ENSG00000186275 . NBPF10 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.025 . . 0.465 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . 0.195 . HET 0 . . . . . . . ID\x3dCOSM1320027\x3bOCCURENCE\x3d1(ovary) . . . . . . . . 0.692 0.692 . 0.280000 . . . . . . 0.032 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.572 0.572000 . . 0.280000 . . 1.0E-242 0.003 0.159 . 0.062 . . 0.259 . 0.274 0.572 . . . . . . 1 1538 10 1/0 0,255,255 +rs190121874 1 146462678 C A - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146462678 146462678 Chr1(GRCh37):g.146462678C>A 4130+2185 4130+2185 NM_001278141.1:c.4130+2185C>A p.? p.? 36 36 608607 2185 5' 87.304 VIII.64 0.955794 3.97612 87.304 VIII.64 0.955794 3.97612 0 rs190121874 yes no Frequency 1 0.000000 0 transversion C A C>A 0.000 -2.377 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.008 . . 27.0 . . . . . . . . . . -1.6183 -1.852 -1.618 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.083 @ . . . 0.31 0.32 182 ENSG00000186275 . . . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . 0.005 . . 0.406 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.026 . 0.169 . HET 0.68 . . . . . . . . . . . . . 1.665 . . 0.725 -1.45 . 0.840000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.514 -2.514000 . . 0.840000 . . 1.0E-255 0.898 0.311 . 0.157 . . 0.039 . 0.007 -2.514 . . . . rs190121874 rs190121874 1 1538 10 1/0 0,255,255 +. 1 146462709 A C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146462709 146462709 Chr1(GRCh37):g.146462709A>C 4130+2216 4130+2216 NM_001278141.1:c.4130+2216A>C p.? p.? 36 36 608607 2216 5' 87.304 VIII.64 0.955794 3.97612 87.304 VIII.64 0.955794 3.97612 0 Cryptic Acceptor Strongly Activated 146462718 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.063 0.609 195 PASS . . . . . . . . . . . . . . . . 0.14893617 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 47.0 . . . . . . . . . . 0.0011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000186275 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs113947871 1 146462785 T C - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution intron GRCh37 146462785 146462785 Chr1(GRCh37):g.146462785T>C 4130+2292 4130+2292 NM_001278141.1:c.4130+2292T>C p.? p.? 36 36 608607 2292 5' 87.304 VIII.64 0.955794 3.97612 87.304 VIII.64 0.955794 3.97612 0 rs113947871 no no 0 0.000000 0 transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.37704918 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 61.0 . . . . . . . . . . -0.6601 -0.897 -0.660 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.165 @ . . . 0.28 0.32 182 ENSG00000186275 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.04 . . . . . . . ID\x3dCOSM116473\x3bOCCURENCE\x3d1(ovary) . . . . . . . . 0.583 0.583 . 0.100000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.487 0.487000 . . 0.100000 . . 1.0E-255 0.003 0.159 . 0.043 . . 0.305 . 0.273 0.487 . . rs4098124 rs4098124 rs201428580 rs201428580 1 1538 10 1/0 0,255,255 +rs113829174 1 146465973 C G - NBPF12 24297 Neuroblastoma breakpoint family, member 12 NM_001278141.1 1 7109 4374 NP_001265070.1 substitution missense exon GRCh37 146465973 146465973 Chr1(GRCh37):g.146465973C>G 4226 4226 NM_001278141.1:c.4226C>G p.Pro1409Arg p.Pro1409Arg 37 608607 96 3' 92.7607 9.45065 0.981006 13.5207 92.7607 9.45065 0.981006 13.5207 0 New Donor Site 146465972 0.66372 0.073982 65.5026 rs113829174 yes no Frequency 1 0.000000 0 0.000778 0.002358 0.000492 0.000000 0.000125 0.000000 0.000298 0.003920 0.001774 0.003920 185 40 12 0 2 0 34 87 10 237918 16960 24404 9114 15996 29402 114210 22196 5636 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 185 40 12 0 2 0 34 87 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.008 0.609 P Pro CCT 0.283 R Arg CGT 0.082 1409 11 2 Western lowland gorilla -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0 IV.32 186 PASS . . . . . . . . . . . ENSG00000186275:ENST00000442909:exon82:c.C9848G:p.P3283R . . . . 0.12698413 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.070 . @ . . . . . 1 0.214 . . 63.0 . . . . . . . . . . -0.6760 -0.918 -0.676 c . . . . . 8.314e-06 . . . . . . . . . . . 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.166 @ . . . 0.36 0.79 182 ENSG00000186275 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.053 . . 0.337 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.278 . LowAF 0.11 . . . . . . . . . . . . . . . ENST00000442909 0.59 0.59 . 0.050000 . . . . . . 0.053 . . . 0 4.583e-06 4.17e-05 0 0 0 0 0 0 0.0085 0.0093 0.0258 0 0.0021 0.0429 0.0032 0.0153 . . 0.558 . 0.597 0.597000 . . 0.050000 . . 1.0E-186 0.000 0.063 . 0.016 0.005 . 0.151 . 0.054 0.597 0.356 . . . rs113829174 rs113829174 1 1538 10 1/0 0,248,255 +. (chr1:147563954 C/A) 1 147563954 C A Not on a known gene +. (chr1:147563989 G/A) 1 147563989 G A Not on a known gene +. 1 147575992 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution 3'UTR GRCh37 147575992 147575992 Chr1(GRCh37):g.147575992C>G *181 *181 NM_183372.5:c.*181G>C p.? p.? 24 614001 198 3' 92.7607 9.45065 0.979274 13.2638 92.7607 9.45065 0.979274 13.2638 0 transversion G C G>C 0.000 -2.700 111 PASS . . . . . . . . . . . . . NBPF8:NM_001037501:exon20:c.G2783C:p.R928T . . 1.0 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.007 . . 22.0 . . . . . . . . . . -1.8440 -2.062 -1.844 c . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . UTR3 exonic exonic . . 0.118 @ . . . 0.7 0.8 182 ENSG00000203836 NBPF8 NBPF8 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.017 . . 0.307 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . ENST00000369227 0.195 -0.39 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.042 . -2.725 -2.725000 . . 1.000000 . . 1.0E-111 0.000 0.063 . 0.016 0.049 . 0.003 . 0.002 -2.725 -2.395 . rs7415277 rs7415277 rs7415277 rs7415277 1 1538 255 1.I 0,0,255 +. 1 147576075 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution 3'UTR GRCh37 147576075 147576075 Chr1(GRCh37):g.147576075G>C *98 *98 NM_183372.5:c.*98C>G p.? p.? 24 614001 115 3' 92.7607 9.45065 0.979274 13.2638 92.7607 9.45065 0.979274 13.2638 0 transversion C G C>G 0.024 0.205 111 PASS . . . . . . . . . . . . . NBPF8:NM_001037501:exon20:c.C2700G:p.Y900X . . 1.0 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 0 0.030 . . 45.0 . . . . . . . . . . -0.9501 -1.171 -0.950 c . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . UTR3 exonic exonic . . 0.139 @ . . . . . . ENSG00000203836 NBPF8 NBPF8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . ENST00000369227 0.118 0.118 . 1.000000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.042 . 0.191 0.191000 . . 1.000000 . . 1.0E-111 0.001 0.137 . 0.074 0.193 . 0.097 . 0.269 0.191 0.060 . . . . . 1 1538 255 1.I 0,0,255 +. 1 147577614 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147577614 147577614 Chr1(GRCh37):g.147577614C>G 2634+29 2634+29 NM_183372.5:c.2634+29G>C p.? p.? 22 22 614001 29 5' 92.583 10.0326 0.99302 6.30796 92.583 10.0326 0.99302 6.02184 0 transversion G C G>C 0.075 0.205 255 PASS . . . . . . . . . . . . . . . . 0.61904764 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.2892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.12 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61807284 rs61807284 . . 1 1538 10 1/0 0,255,255 +. 1 147579272 A G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147579272 147579272 Chr1(GRCh37):g.147579272A>G 2368 2368 NM_183372.5:c.2368T>C p.Tyr790His p.Tyr790His 20 614001 -46 5' 74.2807 8.34018 0.667515 4.75703 74.2807 8.34018 0.667515 5.29597 0 COSM6361690 Thyroid 0.001339 747 transition T C T>C 0.008 0.125 Y Tyr TAC 0.562 H His CAC 0.587 790 11 2 Western lowland gorilla 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Deleterious 0.04 III.41 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.041 . . 65.0 . . . . . . . . . . -0.5967 -0.902 -0.597 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.135 @ . . . 0.56 0.71 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.104 . . 0.116 . . . 0.767 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.715 . . 0.710 . . . . . . 3 . . . . . . . . 0.287 . HET 0.06 . . . . . . . . . . . . . . . . 0.0465 0.0465 . 0.060000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.115 0.115000 . . 0.060000 . . 1.0E-255 0.000 0.063 . 0.062 0.005 . 0.186 . 0.275 0.115 0.649 . . . . . 1 1538 10 1/0 0,255,255 +. 1 147579348 T G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147579348 147579348 Chr1(GRCh37):g.147579348T>G 2292 2292 NM_183372.5:c.2292A>C p.Ser764= p.Ser764Ser 20 614001 52 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.83 0 Cryptic Acceptor Strongly Activated 147579339 0.9196 0.001679 62.7881 2.47389 0.008305 65.7846 transversion A C A>C 0.354 0.125 S Ser TCA 0.148 S Ser TCC 0.220 764 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . 0.0358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 147579379 G T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147579379 147579379 Chr1(GRCh37):g.147579379G>T 2261 2261 NM_183372.5:c.2261C>A p.Ala754Asp p.Ala754Asp 20 614001 21 3' 92.4426 10.0294 0.96652 XII.52 92.4426 10.0294 0.96652 XII.04 0 transversion C A C>A 0.039 -1.651 A Ala GCT 0.263 D Asp GAT 0.461 754 11 3 Dolphin -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Tolerated 0.54 III.33 255 PASS . . . . . . . . . . . . . . . . 0.7037037 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.082 . @ . . . . . 1 0.013 . . 27.0 . . . . . . . . . . -1.9170 -1.945 -1.917 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.032 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.005 . . 0.407 . . . 0.001 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.202 . . 0.281 . . . . . . 3 . . . . . . . . 0.283 . HET 0.48 . . . . . . . . . . . . . . . . 0.0465 0.0465 . 0.350000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.587 -1.587000 . . 0.350000 . . 1.0E-255 0.000 0.063 . 0.016 0.061 . 0.100 . 0.054 -1.587 -2.237 . . . . . 1 1538 10 1/0 0,255,255 +. 1 147582518 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147582518 147582518 Chr1(GRCh37):g.147582518C>T 1963+147 1963+147 NM_183372.5:c.1963+147G>A p.? p.? 16 16 614001 147 5' 71.5327 7.394 0.757364 5.01251 71.5327 7.394 0.757364 5.01251 0 New Acceptor Site 147582516 3.26945 0.317307 75.4569 transition G A G>A 0.051 0.286 255 PASS . . . . . . . . . . . . . . . . 0.5833333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . -0.3488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.27 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs12049079 rs12049079 rs12049079 rs12049079 1 1538 10 1/0 0,255,255 +. 1 147582598 C A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147582598 147582598 Chr1(GRCh37):g.147582598C>A 1963+67 1963+67 NM_183372.5:c.1963+67G>T p.? p.? 16 16 614001 67 5' 71.5327 7.394 0.757364 5.01251 71.5327 7.394 0.757364 4.66641 0 transversion G T G>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.5404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.3 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9437889 rs9437889 rs9437889 rs9437889 1 1538 10 1/0 0,255,255 +. 1 147582731 G T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147582731 147582731 Chr1(GRCh37):g.147582731G>T 1897 1897 NM_183372.5:c.1897C>A p.Gln633Lys p.Gln633Lys 16 614001 -67 5' 71.5327 7.394 0.757364 5.01251 71.5327 7.394 0.757364 5.16861 0 COSM5427814 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 0.000 -0.844 Q Gln CAG 0.744 K Lys AAG 0.575 633 11 2 Western lowland gorilla 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 0.74 III.33 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.005 . . 42.0 . . . . . . . . . . -1.3682 -1.545 -1.368 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.118 @ . . . 0.52 0.18 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.034 . . 0.424 . . . 0.717 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.192 . . 0.203 . . . . . . 4 . . . . . . . . 0.340 . LowAF 0.25 . . . . . . . . . . . . . . . . 0.195 -0.39 . 0.130000 Q5RGN0 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.846 -0.846000 . . 0.130000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.041 . 0.141 . 0.049 -0.846 0.562 . rs9437892 rs9437892 rs9437892 rs9437892 1 1538 10 1.I 0,0,0 +. 1 147582745 C A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147582745 147582745 Chr1(GRCh37):g.147582745C>A 1883 1883 NM_183372.5:c.1883G>T p.Arg628Met p.Arg628Met 16 614001 -81 5' 71.5327 7.394 0.757364 5.01251 71.5327 7.394 0.757364 5.01251 0 Cryptic Acceptor Strongly Activated 147582728 0.367903 0.001394 71.6572 1.73786 0.002787 71.6572 transversion G T G>T 0.000 -1.974 R Arg AGG 0.207 M Met ATG 1.000 628 11 1 -1 -1 -3 0.65 0 10.V 5.VII 124 105 91 C0 353.86 0.00 Tolerated 0.3 III.33 203 PASS . . . . . . . . . . . . . . . . 0.17073171 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.017 . . 41.0 . . . . . . . . . . -2.0707 -2.130 -2.071 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.118 @ . . . 0.52 0.25 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.005 . . 0.433 . . . 0.005 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.112 . . 0.112 . . . . . . 3 . . . . . . . . 0.375 . HET 0.47 . . . . . . . . . . . . . . . ENST00000369226 0.195 -0.39 . 0.370000 Q5RGN0 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.982 -1.982000 . . 0.370000 . . 1.0E-203 0.000 0.063 . 0.016 0.004 . 0.003 . 0.000 -1.982 -2.186 . rs28734780 rs28734780 rs4028600 rs4028600 1 1538 10 1/0 0,255,255 +. 1 147582876 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147582876 147582876 Chr1(GRCh37):g.147582876C>G 1800-48 1800-48 NM_183372.5:c.1800-48G>C p.? p.? 16 15 614001 -48 3' 76.7699 7.52764 0.562481 3.70641 76.7699 7.52764 0.562481 3.68574 0 transversion G C G>C 0.016 -0.682 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.5910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.66 0.25 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs9438334 . . . 1 1538 10 1/0 0,255,255 +. 1 147588714 T C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147588714 147588714 Chr1(GRCh37):g.147588714T>C 1541+32 1541+32 NM_183372.5:c.1541+32A>G p.? p.? 13 13 614001 32 5' 81.9751 8.87834 0.96301 0 81.9751 8.87834 0.96301 0 0 transition A G A>G 0.004 -0.763 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.4655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +. 1 147588753 A C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147588753 147588753 Chr1(GRCh37):g.147588753A>C 1534 1534 NM_183372.5:c.1534T>G p.Ser512Ala p.Ser512Ala 13 614001 -8 5' 81.9751 8.87834 0.96301 0 81.9751 8.87834 0.96301 0 0 transversion T G T>G 0.004 -0.682 S Ser TCC 0.220 A Ala GCC 0.403 512 11 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.85 III.76 255 PASS . . . . . . . . . . . . . . . . 0.3814433 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.017 . . 97.0 . . . . . . . . . . -1.9613 -1.930 -1.961 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.144 @ . . . 0.49 0.27 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.002 . . 0.371 . . . 0.005 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.151 . . 0.166 . . . . . . 3 . . . . . . . . 0.232 . HET 1 . . . . . . . . . . . . . . . . 0.195 0.195 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.681 -0.681000 . . 1.000000 . . 1.0E-255 0.007 0.175 . 0.104 0.124 . 0.054 . 0.035 -0.681 -2.431 . rs9970097 rs9970097 rs9970097 rs9970097 1 1538 10 1/0 0,252,255 +. 1 147588895 G A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147588895 147588895 Chr1(GRCh37):g.147588895G>A 1469-77 1469-77 NM_183372.5:c.1469-77C>T p.? p.? 13 12 614001 -77 3' 91.8347 5.70008 0.850282 7.03708 91.8347 5.70008 0.850282 6.80492 0 transition C T C>T 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.40677965 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.6645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.71 0.3 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9331715 rs9331715 rs9331715 rs9331715 1 1538 10 1/0 0,255,255 +. 1 147590027 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147590027 147590027 Chr1(GRCh37):g.147590027G>C 1296 1296 NM_183372.5:c.1296C>G p.Thr432= p.Thr432Thr 12 614001 43 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.97819 0 transversion C G C>G 0.012 0.205 T Thr ACC 0.361 T Thr ACG 0.116 432 184 PASS . . . . . . . . . . . . . . . . 0.12280702 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 57.0 . . . . . . . . . . -0.3894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 1 147590120 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147590120 147590120 Chr1(GRCh37):g.147590120C>T 1254-51 1254-51 NM_183372.5:c.1254-51G>A p.? p.? 12 11 614001 -51 3' 76.3466 9.44659 0.835517 6.42651 76.3466 9.44659 0.835517 6.52572 0 New Acceptor Site 147590118 5.84301 0.012964 72.9985 transition G A G>A 0.004 0.125 213 PASS . . . . . . . . . . . . . . . . 0.19607843 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.13 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs112459449 rs112459449 1 1538 10 1/0 0,255,255 +. 1 147590905 G A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147590905 147590905 Chr1(GRCh37):g.147590905G>A 1251 1251 NM_183372.5:c.1251C>T p.Leu417= p.Leu417Leu 11 614001 -3 5' 90.6189 10.0684 0.964038 6.80992 86.4908 7.64824 0.94689 3.62674 -0.101237 COSM5427869|COSM5427869 Large intestine|Haematopoietic and lymphoid tissue 0.000450|0.000283 2220|3530 transition C T C>T 0.031 -1.167 L Leu CTC 0.197 L Leu CTT 0.129 417 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 36.0 . . . . . . . . . . -0.6523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.25 182 ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . rs78261742 rs78261742 1 1538 10 1/0 0,255,255 +. 1 147590923 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147590923 147590923 Chr1(GRCh37):g.147590923C>G 1233 1233 NM_183372.5:c.1233G>C p.Leu411= p.Leu411Leu 11 614001 -21 5' 90.6189 10.0684 0.964038 6.80992 90.6189 10.0684 0.964038 VI.95 0 COSM5427881|COSM5427881 Liver|Haematopoietic and lymphoid tissue 0.002109|0.000283 2371|3530 transversion G C G>C 0.012 -1.086 L Leu CTG 0.404 L Leu CTC 0.197 411 255 PASS . . . . . . . . . . . . . . . . 0.32692307 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 52.0 . . . . . . . . . . -0.7552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74946467 rs74946467 1 1538 10 1/0 0,255,255 +. 1 147590939 T A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147590939 147590939 Chr1(GRCh37):g.147590939T>A 1217 1217 NM_183372.5:c.1217A>T p.Lys406Met p.Lys406Met 11 614001 -37 5' 90.6189 10.0684 0.964038 6.80992 90.6189 10.0684 0.964038 7.10384 0 COSM5427878 Haematopoietic and lymphoid tissue 0.000567 3530 transversion A T A>T 0.016 0.125 K Lys AAG 0.575 M Met ATG 1.000 406 11 2 Western lowland gorilla -1 -1 -3 0.33 0 11.III 5.VII 119 105 95 C0 353.86 0.00 Deleterious 0 IV.32 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.415 . @ . . . . . 1 0.028 . . 51.0 . . . . . . . . . . -0.5619 -0.863 -0.562 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.139 @ . . . 0.22 0.06 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.059 . . 0.281 . . . 0.526 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.715 . . 0.717 . . . . . . 3 . . . . . . . . 0.377 . HET 0 . . . . . . . . . . . . . . . . 0.118 0.118 . 0.000000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.165 0.165000 . . 0.000000 . . 1.0000000000000001E-233 0.000 0.063 . 0.130 0.118 . 0.092 . 0.255 0.165 0.062 . . . rs78782146 rs78782146 1 1538 10 1/0 0,255,255 +. 1 147591037 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147591037 147591037 Chr1(GRCh37):g.147591037G>C 1151-32 1151-32 NM_183372.5:c.1151-32C>G p.? p.? 11 10 614001 -32 3' 88.016 9.98334 0.911411 IV.24 88.016 9.98334 0.911411 4.20999 0 transversion C G C>G 0.248 0.205 227 PASS . . . . . . . . . . . . . . . . 0.23529412 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.1481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.04 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs78508199 rs78508199 1 1538 10 1/0 0,255,255 +. 1 147591065 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147591065 147591065 Chr1(GRCh37):g.147591065G>C 1151-60 1151-60 NM_183372.5:c.1151-60C>G p.? p.? 11 10 614001 -60 3' 88.016 9.98334 0.911411 IV.24 88.016 9.98334 0.911411 4.57244 0 transversion C G C>G 0.114 0.205 225 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.05 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs74332505 rs74332505 1 1538 10 1/0 0,255,255 +. 1 147591074 G A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147591074 147591074 Chr1(GRCh37):g.147591074G>A 1151-69 1151-69 NM_183372.5:c.1151-69C>T p.? p.? 11 10 614001 -69 3' 88.016 9.98334 0.911411 IV.24 88.016 9.98334 0.911411 4.46753 0 transition C T C>T 0.055 0.205 228 PASS . . . . . . . . . . . . . . . . 0.24242425 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.05 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . rs74626779 rs74626779 1 1538 10 1/0 0,255,255 +. 1 147596221 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147596221 147596221 Chr1(GRCh37):g.147596221C>T 570 570 NM_183372.5:c.570G>A p.Pro190= p.Pro190Pro 7 614001 -86 5' 94.9812 11.083 0.995156 8.63384 94.9812 11.083 0.995156 8.63384 0 COSM5428184 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.331 0.125 P Pro CCG 0.115 P Pro CCA 0.274 190 242 PASS . . . . . . . . . . . . . . . . 0.28125 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . -0.2179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.09 182 ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs28480670 rs28480670 rs28480670 rs28480670 1 1538 10 1/0 0,255,255 +. 1 147596256 C G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147596256 147596256 Chr1(GRCh37):g.147596256C>G 535 535 NM_183372.5:c.535G>C p.Glu179Gln p.Glu179Gln 7 614001 95 3' 76.3466 9.44659 0.835517 6.34786 76.3466 9.44659 0.835517 6.34786 0 Cryptic Acceptor Strongly Activated 147596253 57.4877 4.24294 0.000141 68.3097 transversion G C G>C 0.098 -1.974 E Glu GAG 0.583 Q Gln CAG 0.744 179 11 2 Dog 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Tolerated 1 III.33 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.006 . . 64.0 . . . . . . . . . . -2.1580 -2.154 -2.158 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.18 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.102 0.004 . . 37 . 0.020 . . 0.137 . . . 0.004 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.245 . . 0.227 . . . . . . 3 . . . . . . . . 0.227 . HET 1 . . . . . . . . . . . . . . . . . . . 0.780000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -2.055 -2.055000 . . 0.780000 . . 1.0E-232 0.004 0.165 . 0.173 0.009 . 0.130 . 0.012 -2.055 -0.677 . rs28566856 rs28566856 rs28566856 rs28566856 1 1538 10 1/0 0,255,255 +. 1 147596300 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147596300 147596300 Chr1(GRCh37):g.147596300C>T 491 491 NM_183372.5:c.491G>A p.Arg164Lys p.Arg164Lys 7 614001 51 3' 76.3466 9.44659 0.835517 6.34786 76.3466 9.44659 0.835517 6.1015 0 transition G A G>A 0.047 0.125 R Arg AGG 0.207 K Lys AAG 0.575 164 11 5 Cow 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Tolerated 0.26 III.33 205 PASS . . . . . . . . . . . . . . . . 0.17307693 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.026 . . 52.0 . . . . . . . . . . -0.8623 -1.081 -0.862 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.274 . . 0.216 . . . 0.409 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.386 . . 0.415 . . . . . . 3 . . . . . . . . 0.266 . HET 0.07 . . . . . . . . . . . . . . . . . . . 0.090000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.107 0.107000 . . 0.090000 . . 1.0E-205 0.001 0.137 . 0.190 0.138 . 0.200 . 0.246 0.107 0.537 . . . . . 1 1538 10 1/0 0,255,255 +. 1 147596308 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147596308 147596308 Chr1(GRCh37):g.147596308G>C 483 483 NM_183372.5:c.483C>G p.Thr161= p.Thr161Thr 7 614001 43 3' 76.3466 9.44659 0.835517 6.34786 76.3466 9.44659 0.835517 6.89955 0 transversion C G C>G 0.031 0.125 T Thr ACC 0.361 T Thr ACG 0.116 161 196 PASS . . . . . . . . . . . . . . . . 0.1521739 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 46.0 . . . . . . . . . . -0.3726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs782423228 1 147597166 T A - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147597166 147597166 Chr1(GRCh37):g.147597166T>A 440+16 440+16 NM_183372.5:c.440+16A>T p.? p.? 6 6 614001 16 5' 90.6189 10.0684 0.964038 IV.89 90.6189 10.0684 0.964038 5.01143 0 rs782423228 yes no Frequency 1 T 0.000000 0 0.000566 0.001851 0.000147 0.000000 0.000167 0.000000 0.000495 0.002067 0.000835 0.002067 144 35 5 0 3 0 59 37 5 254566 18908 33922 9950 17956 30712 119228 17904 5986 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144 35 5 0 3 0 59 37 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.008 -0.037 187 PASS . . . . . . . . . . . . . . . . 0.12790698 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.4368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.24 182 ENSG00000203836 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 5.992e-05 0 5.868e-05 0.0020 0 0 0 0.0074 0.0055 0.0055 0 0.0022 0.0023 0.0057 0.0078 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs3871929 rs3871929 1 1538 10 1/0 0,235,255 +. 1 147599165 C T - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution missense exon GRCh37 147599165 147599165 Chr1(GRCh37):g.147599165C>T 284 284 NM_183372.5:c.284G>A p.Arg95Lys p.Arg95Lys 5 614001 -54 5' 73.3142 5.95993 0.947281 0.710038 73.3142 5.95993 0.947281 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22156 378 2170 770 2 1442 16210 666 518 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 61 Exomes transition G A G>A 0.000 -1.247 R Arg AGA 0.205 K Lys AAA 0.425 95 11 1 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Tolerated 1 III.34 219 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.027 . . 23.0 . . . . . . . . . . -1.6688 -1.780 -1.669 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.139 @ . . . 0.52 0.46 182 ENSG00000203836 NBPF24 NBPF11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.066 0.003 . . 37 . 0.003 . . 0.420 . . . 0.002 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 3 . . . . . . . . 0.314 . HET 1 . . . . . . . . . . . . . . 0.012397 ENST00000369228 0.11 0.11 . 1.000000 . . . . . . 0.001 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.558 . -1.336 -1.336000 . . 1.000000 . . 1.0E-219 0.001 0.137 . 0.016 0.289 . 0.080 . 0.009 -1.336 -0.281 . rs6675526 rs6675526 rs6675526 rs6675526 1 1538 10 1/0 0,255,255 +. 1 147599205 A G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution synonymous exon GRCh37 147599205 147599205 Chr1(GRCh37):g.147599205A>G 244 244 NM_183372.5:c.244T>C p.Leu82= p.Leu82Leu 5 614001 -94 5' 73.3142 5.95993 0.947281 0.710038 73.3142 5.95993 0.947281 0.710038 0 transition T C T>C 0.031 -1.086 L Leu TTG 0.127 L Leu CTG 0.404 82 244 PASS . . . . . . . . . . . . . . . . 0.29268292 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.6151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.51 182 ENSG00000203836 NBPF24 NBPF11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs6680516 rs6680516 rs6680516 rs6680516 1 1538 10 1/0 0,255,255 +. 1 147621501 A G - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147621501 147621501 Chr1(GRCh37):g.147621501A>G 2111 2111 NM_183372.5:c.-387+2498T>C p.? p.? 1 1 614001 2498 5' 92.583 10.0326 0.991191 8.68038 92.583 10.0326 0.991191 8.68038 0 Cryptic Donor Strongly Activated 147621500 4.90179 0.106285 70.9607 6.82506 0.37787 70.5575 transition T C T>C 1.000 1.658 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.0176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.52 0.36 182 ENSG00000203835 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs61805954 rs61805954 rs9437935 rs9437935 1 1538 255 1.I 0,0,255 +. 1 147621670 G C - NBPF11 31993 Neuroblastoma breakpoint family, member 11 NM_183372.5 -1 5467 2760 NP_899228.4 substitution intron GRCh37 147621670 147621670 Chr1(GRCh37):g.147621670G>C 1942 1942 NM_183372.5:c.-387+2329C>G p.? p.? 1 1 614001 2329 5' 92.583 10.0326 0.991191 8.68038 92.583 10.0326 0.991191 8.68038 0 transversion C G C>G 1.000 1.416 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.0559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.6 0.31 182 ENSG00000203835 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs9437936 rs9437936 rs9437936 rs9437936 1 1538 255 1.I 0,0,255 +. 1 148005625 C G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148005625 148005625 Chr1(GRCh37):g.148005625C>G 2414-114 2414-114 NM_015383.1:c.2414-114G>C p.? p.? 21 20 614003 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.004 -2.216 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . -0.8770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148007014 T A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007014 148007014 Chr1(GRCh37):g.148007014T>A 2240+25 2240+25 NM_015383.1:c.2240+25A>T p.? p.? 19 19 614003 25 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.967377 3.57506 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7658 282 1652 84 1326 1094 2864 122 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 77 Exomes transversion A T A>T 0.024 0.286 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.0465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.43 0.22 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +. 1 148007143 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007143 148007143 Chr1(GRCh37):g.148007143A>G 2189-53 2189-53 NM_015383.1:c.2189-53T>C p.? p.? 19 18 614003 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 transition T C T>C 0.012 0.125 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.1265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.48 0.3 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148007483 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007483 148007483 Chr1(GRCh37):g.148007483A>G 2188+317 2188+317 NM_015383.1:c.2188+317T>C p.? p.? 18 18 614003 317 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.024 0.286 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.2409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148007519 C G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007519 148007519 Chr1(GRCh37):g.148007519C>G 2188+281 2188+281 NM_015383.1:c.2188+281G>C p.? p.? 18 18 614003 281 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 148007501 7.4e-05 71.6045 0.801323 0.0001 71.6045 rs201443873 no no 0 0.000000 0 transversion G C G>C 0.012 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.53846157 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 13.0 . . . . . . . . . . -0.8398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.51 0.26 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201443873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201443873 rs201443873 1 1538 10 1/0 0,255,255 +. 1 148007644 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007644 148007644 Chr1(GRCh37):g.148007644A>G 2188+156 2188+156 NM_015383.1:c.2188+156T>C p.? p.? 18 18 614003 156 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.6333333 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60.0 . . . . . . . . . . -0.6473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.51 0.29 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs5011765 rs5011765 . . 1 1538 10 1/0 0,255,255 +. 1 148007646 T G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007646 148007646 Chr1(GRCh37):g.148007646T>G 2188+154 2188+154 NM_015383.1:c.2188+154A>C p.? p.? 18 18 614003 154 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 148007637 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.5322581 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62.0 . . . . . . . . . . -0.5227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.51 0.32 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148007730 T G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148007730 148007730 Chr1(GRCh37):g.148007730T>G 2188+70 2188+70 NM_015383.1:c.2188+70A>C p.? p.? 18 18 614003 70 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.43889 0 Cryptic Acceptor Strongly Activated 148007727 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 rs61810204 no no 0 0.000000 0 transversion A C A>C 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.5253456 . . . 114 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 217.0 . . . . . . . . . . -0.3196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61810204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,239 +. 1 148007845 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148007845 148007845 Chr1(GRCh37):g.148007845A>G 2143 2143 NM_015383.1:c.2143T>C p.Tyr715His p.Tyr715His 18 614003 -46 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.65652 0 DUF1220 COSM6424479 Thyroid 0.002677 747 transition T C T>C 0.000 0.448 Y Tyr TAC 0.562 H His CAC 0.587 715 14 5 Macaque 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 178 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon18:c.T2143C:p.Y715H . NBPF8:NM_001037501:exon16:c.T2206C:p.Y736H . . 0.1092437 . . . 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 119.0 . . . . . . . . . . -0.6014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.12 . . . . . . . . . . . . . . . . 0.503 0.503 . 0.180000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.467 0.467000 . . 0.180000 . . 1.0E-178 . . . . . . . . . 0.467 . . . . . . 1 1538 10 1/0 0,220,255 +. 1 148007855 G T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148007855 148007855 Chr1(GRCh37):g.148007855G>T 2133 2133 NM_015383.1:c.2133C>A p.Ser711Arg p.Ser711Arg 18 614003 -56 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 4.65498 0 DUF1220 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000118 0.000000 0.000000 0.000118 1 0 0 0 0 0 1 0 0 19682 856 3274 494 3270 2368 8446 362 612 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 58 Exomes COSM6374548 Thyroid 0.001339 747 transversion C A C>A 0.000 -2.135 S Ser AGC 0.243 R Arg AGA 0.205 711 14 2 Chimp -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Tolerated 0.71 III.36 good 9.754E-1 0.2829 255 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon18:c.C2133A:p.S711R . NBPF8:NM_001037501:exon16:c.C2196A:p.S732R . . 0.39 . . . 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 100.0 . . . . . . . . . . -2.1959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.61 . . . . . . . . . . . . . . . . 0.503 -1.01 . 1.000000 . . . . . . . . . . 0 5.081e-05 0 0 0 0 0.0001 0 0 . . . . . . . . . . . . -2.207 -2.207000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -2.207 . . rs4994032 rs4994032 . . 1 1538 10 1/0 0,255,255 +. 1 148007916 C T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148007916 148007916 Chr1(GRCh37):g.148007916C>T 2072 2072 NM_015383.1:c.2072G>A p.Gly691Asp p.Gly691Asp 18 614003 57 3' 92.4426 10.0294 0.96652 XII.31 92.4426 10.0294 0.96652 XII.04 0 DUF1220 0.000045 0.000000 0.000000 0.000000 0.000000 0.000392 0.000000 0.000000 0.000000 0.000392 1 0 0 0 0 1 0 0 0 22252 1020 3740 560 3752 2554 9554 380 692 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 61 Exomes transition G A G>A 0.000 -1.812 G Gly GGT 0.162 D Asp GAT 0.461 691 14 1 -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 251.59 0.00 Tolerated 1 III.36 good 7.674E-1 0.2771 111 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon18:c.G2072A:p.G691D . NBPF8:NM_001037501:exon16:c.G2135A:p.G712D . . 1.0 . . . 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 12.0 . . . . . . . . . . -1.6818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . 0.503 -1.01 . 1.000000 . . . . . . . . . . 0 4.494e-05 0 0 0 0 0 0 0.0004 . . . . . . . . . . . . -1.797 -1.797000 . . 1.000000 . . 1.0E-111 . . . . . . . . . -1.797 . . rs558823 rs558823 . . 1 1538 255 1.I 0,0,255 +. 1 148009371 G A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148009371 148009371 Chr1(GRCh37):g.148009371G>A 1936 1936 NM_015383.1:c.1936C>T p.Arg646Cys p.Arg646Cys 16 614003 -28 5' 86.8199 10.1256 0.988158 6.96807 86.8199 10.1256 0.988158 6.52279 0 Cryptic Donor Strongly Activated 148009373 53.8639 2.27157 0.013667 64.107 DUF1220 rs200683178 yes no Frequency/1000G 2 0.000000 0 0.047923 0.145200 0.016400 0.006900 0.009900 0.021600 0.000201 0.001851 0.000168 0.000000 0.000000 0.000000 0.000017 0.000718 0.000340 0.001851 49 23 5 0 0 0 2 17 2 243328 12424 29848 9298 17726 28268 116214 23668 5882 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000338 0.000340 5 0 0 0 0 0 0 4 1 39 23 5 0 0 0 2 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3801696|COSM3801696|COSM3801696 Upper aerodigestive tract|Thyroid|Breast 0.003197|0.001339|0.000408 1251|747|2453 transition C T C>T 0.000 -14.080 R Arg CGT 0.082 C Cys TGT 0.448 646 14 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.17 III.38 good 3.595E-1 0.5855 255 PASS . . . . . 0.15 0.048 0.022 0.0069 0.0099 0.016 ENSG00000122497:ENST00000369219:exon16:c.C1936T:p.R646C . . . . 0.5531915 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47.0 . . . . . . . . . . -0.4486 . . . . . . . . 1.288e-04 . . . 0 3.829e-05 0 0 0 2.591e-05 0 0.0001 0 3.221e-05 0 0.0001 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . 0.52 0.26 182 ENSG00000122497 . NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 rs200683178 . . . . . . . . . . . . . . . . . . 0.020000 Q5TI25 . . . . . . . . . 0 9.135e-06 6.868e-05 0 0 0 0 0 0 0.0052 0.0019 0.0041 0 0 0.0055 0.0001 0.0023 . . . . . . . . 0.020000 . . 1.0E-255 . . . . . . . . . . . . rs11554534 rs11554534 rs200683178 rs200683178 1 1538 10 1/0 0,255,255 +. 1 148009375 T C - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution synonymous exon GRCh37 148009375 148009375 Chr1(GRCh37):g.148009375T>C 1932 1932 NM_015383.1:c.1932A>G p.Gln644= p.Gln644Gln 16 614003 -32 5' 86.8199 10.1256 0.988158 6.96807 86.8199 10.1256 0.988158 6.97652 0 DUF1220 0.000012 0.000079 0.000000 0.000000 0.000000 0.000000 0.000009 0.000042 0.000000 0.000079 3 1 0 0 0 0 1 1 0 243950 12666 29884 9300 17762 28268 116402 23772 5896 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -14.080 Q Gln CAA 0.256 Q Gln CAG 0.744 644 255 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon16:c.A1932G:p.Q644Q . . . . 0.3488372 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000310701 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0002 0.0001 0 0 0 0.0003 7.309e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148009402 G A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution synonymous exon GRCh37 148009402 148009402 Chr1(GRCh37):g.148009402G>A 1905 1905 NM_015383.1:c.1905C>T p.Tyr635= p.Tyr635Tyr 16 614003 -59 5' 86.8199 10.1256 0.988158 6.96807 86.8199 10.1256 0.988158 6.33258 0 DUF1220 rs782401251 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000056 0.000035 0.000000 0.000042 0.000000 0.000056 3 0 0 0 1 1 0 1 0 244410 12712 29986 9304 17762 28280 116662 23798 5906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -14.080 Y Tyr TAC 0.562 Y Tyr TAT 0.438 635 247 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon16:c.C1905T:p.Y635Y . . . . 0.3 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 40.0 . . . . . . . . . . -0.2757 . . . . . . . . 5.940e-05 . . . 0 6.353e-05 0 0.0002 0 7.747e-05 0 6.623e-05 0 7.488e-05 0 0.0001 0 0.0001 0 6.661e-05 synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs782401251 . . . . . . . . . . . . . . ENST00000310701 . . . . . . . . . . . . . . 0 9.11e-06 0 0 6.147e-05 0 0 0 3.536e-05 0 4.021e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148010987 T C - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution synonymous exon GRCh37 148010987 148010987 Chr1(GRCh37):g.148010987T>C 1635 1635 NM_015383.1:c.1635A>G p.Ser545= p.Ser545Ser 14 614003 70 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.79 0 DUF1220 rs782092009 yes no Frequency 1 0.000000 0 0.000327 0.000000 0.000000 0.000000 0.000000 0.000221 0.000689 0.000190 0.000000 0.000689 40 0 0 0 0 2 35 3 0 122226 14706 15760 3168 9778 9068 50812 15766 3168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 0 0 0 0 2 35 3 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM393403|COSM393403 Lung|Kidney 0.000838|0.000578 2388|1729 transition A G A>G 0.004 -0.602 S Ser TCA 0.148 S Ser TCG 0.056 545 176 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon14:c.A1635G:p.S545S . NBPF8:NM_001037501:exon14:c.A1923G:p.S641S . . 0.10412926 . . . 58 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 557.0 . . . . . . . . . . -0.8407 . . . . . . . . 5.386e-04 . . . 0.0033 0.0041 0 0.0026 0 0.0050 0 0.0035 0 0.0018 0 0.0056 0 0.0022 0 0.0036 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs782092009 . . . . . . . . . . . . . . ENST00000310701 . . . . . . . . . . . . . . 0 0.0004 0 0 0 0.0002 0.0010 0 0.0002 0 0 0 0 0 0 0 0 . . . . -0.568 -0.568000 . . . . . 1.0E-176 . . . . . . . . . -0.568 . . rs11488477 rs11488477 . . 1 1538 10 1/0 0,152,255 +. 1 148011027 C T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148011027 148011027 Chr1(GRCh37):g.148011027C>T 1595 1595 NM_015383.1:c.1595G>A p.Gly532Glu p.Gly532Glu 14 614003 30 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 11.505 0 DUF1220 rs782788713 yes no Frequency 1 0.000000 0 0.000022 0.000000 0.000000 0.000208 0.000000 0.000151 0.000000 0.000000 0.000000 0.000208 3 0 0 1 0 2 0 0 0 133934 14264 19894 4816 10282 13274 52706 15080 3618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -2.700 G Gly GGG 0.250 E Glu GAG 0.583 532 14 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 170 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon14:c.G1595A:p.G532E . NBPF8:NM_001037501:exon14:c.G1883A:p.G628E . . 0.1056511 . . . 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.076 . . . . . . . 1 0.012 . . 407.0 . . . . . . . . . . -1.9842 -2.101 -1.984 c . . . . . 1.150e-05 . . . 0 0.0003 0 0 0 0.0005 0 0 0 0.0003 0 0 0 0.0013 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000122497 . NBPF8 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.004 . . 0.486 . . . 0.004 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.067 . . 0.139 . . . . . . 0 . . . . . . . . 0.341 . LowAF 1 rs782788713 . . . . . . . . . . . . . . ENST00000310701 . . . 0.120000 . . . . . . 0.002 . . . 0 2.895e-05 0 0.0002 0 0 0 0 0.0002 0 0 0 0 0 0 0 0 . . 0.498 . -2.833 -2.833000 . . 1.000000 . . 1.0E-170 0.785 0.293 . 0.240 0.324 . 0.072 . 0.163 -2.833 0.057 . rs4125365 rs1924654 . . 1 1538 10 1/0 0,166,255 +. 1 148011902 C G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148011902 148011902 Chr1(GRCh37):g.148011902C>G 1457-114 1457-114 NM_015383.1:c.1457-114G>C p.? p.? 13 12 614003 -114 3' 83.2605 8.73937 0.14414 2.82116 83.2605 8.73937 0.14414 2.82116 0 transversion G C G>C 0.366 0.044 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013424 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013424 148013424 Chr1(GRCh37):g.148013424A>G 1232-53 1232-53 NM_015383.1:c.1232-53T>C p.? p.? 11 10 614003 -53 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.325714 VII.39 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3602 Genomes transition T C T>C 0.370 0.205 223 PASS . . . . . . . . . . . . . . . . 0.2244898 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 49.0 . . . . . . . . . . 0.1179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.47 0.27 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013764 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013764 148013764 Chr1(GRCh37):g.148013764A>G 1231+317 1231+317 NM_015383.1:c.1231+317T>C p.? p.? 10 10 614003 317 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.45 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 20.0 . . . . . . . . . . -0.4001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013800 C G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013800 148013800 Chr1(GRCh37):g.148013800C>G 1231+281 1231+281 NM_015383.1:c.1231+281G>C p.? p.? 10 10 614003 281 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 148013782 7.4e-05 71.6045 0.801323 0.0001 71.6045 transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.6111111 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 18.0 . . . . . . . . . . -0.3870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013925 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013925 148013925 Chr1(GRCh37):g.148013925A>G 1231+156 1231+156 NM_015383.1:c.1231+156T>C p.? p.? 10 10 614003 156 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.6909091 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 55.0 . . . . . . . . . . -0.3929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.5 0.32 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148013927 T G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148013927 148013927 Chr1(GRCh37):g.148013927T>G 1231+154 1231+154 NM_015383.1:c.1231+154A>C p.? p.? 10 10 614003 154 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.11758 0 Cryptic Acceptor Strongly Activated 148013918 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.58928573 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56.0 . . . . . . . . . . -0.3502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.5 0.35 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148014126 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148014126 148014126 Chr1(GRCh37):g.148014126A>G 1186 1186 NM_015383.1:c.1186T>C p.Tyr396His p.Tyr396His 10 614003 -46 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 5.65652 0 DUF1220 COSM6374519 Thyroid 0.002677 747 transition T C T>C 0.000 -14.080 Y Tyr TAC 0.562 H His CAC 0.587 396 14 1 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 216 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon10:c.T1186C:p.Y396H . . . . 0.20325203 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.184 . . . . . . . 2 0.264 . . 123.0 . . . . . . . . . . -0.0093 -0.209 -0.009 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 NBPF8 NBPF8 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.098 0.004 . . 37 . 0.110 . . 0.127 . . . 0.761 0.090 . . . . . . . . . . . . . . . . . . . . . . . . . 0.899 . . 0.875 . . . . . . 0 . . . . . . . . 0.572 . HET 0.12 . . . . . . . . . . . . . . . . . . . 0.130000 . . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.130000 . . 1.0E-216 0.000 0.063 . 0.095 0.008 . 0.163 . 0.240 . 0.642 . . . . . 1 1538 10 1/0 0,227,255 +. 1 148014136 G T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148014136 148014136 Chr1(GRCh37):g.148014136G>T 1176 1176 NM_015383.1:c.1176C>A p.Ser392Arg p.Ser392Arg 10 614003 -56 5' 74.2807 8.34018 0.667515 5.11758 74.2807 8.34018 0.667515 4.65498 0 DUF1220 COSM6408896 Thyroid 0.001339 747 transversion C A C>A 0.000 -14.080 S Ser AGC 0.243 R Arg AGA 0.205 392 14 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon10:c.C1176A:p.S392R . . . . 0.4811321 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.078 . . . . . . . 2 0.112 . . 106.0 . . . . . . . . . . -0.9173 -0.866 -0.917 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 NBPF8 NBPF8 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.318 0.013 . . 37 . 0.007 . . 0.357 . . . 0.005 0.090 . . . . . . . . . . . . . . . . . . . . . . . . . 0.437 . . 0.501 . . . . . . 0 . . . . . . . . 0.694 . HET 0.62 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.090 0.027 . 0.019 . 0.009 . 0.557 . . . . . 1 1538 10 1/0 0,255,255 +. 1 148014182 G A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148014182 148014182 Chr1(GRCh37):g.148014182G>A 1130 1130 NM_015383.1:c.1130C>T p.Thr377Ile p.Thr377Ile 10 614003 72 3' 92.4426 10.0294 0.96652 XII.31 92.4426 10.0294 0.96652 XII.71 0 Cryptic Acceptor Weakly Activated 148014173 8.24084 0.916685 88.1329 VIII.71 0.944448 90.8448 DUF1220 COSM6408776 Thyroid 0.001339 747 transition C T C>T 0.016 0.528 T Thr ACT 0.243 I Ile ATT 0.356 377 14 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 209 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon10:c.C1130T:p.T377I . . . . 0.1875 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.344 . . . . . . . 2 0.508 . . 32.0 . . . . . . . . . . -0.1980 -0.519 -0.198 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 NBPF8 NBPF8 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.004 0.001 . . 37 . 0.285 . . 0.029 . . . 0.784 0.090 . . . . . . . . . . . . . . . . . . . . . . . . . 0.899 . . 0.850 . . . . . . 0 . . . . . . . . 0.710 . HET 0 . . . . . . . . . . . . . . . . . . . 0.040000 . . . . . . 0.083 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.497 0.497000 . . 0.040000 . . 1.0E-209 0.050 0.212 . 0.130 0.053 . 0.324 . 0.223 0.497 0.557 . . . . . 1 1538 10 1/0 0,255,255 +. 1 148014197 C T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution missense exon GRCh37 148014197 148014197 Chr1(GRCh37):g.148014197C>T 1115 1115 NM_015383.1:c.1115G>A p.Gly372Asp p.Gly372Asp 10 614003 57 3' 92.4426 10.0294 0.96652 XII.31 92.4426 10.0294 0.96652 XII.04 0 DUF1220 transition G A G>A 0.008 0.528 G Gly GGT 0.162 D Asp GAT 0.461 372 14 1 -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 111 PASS . . . . . . . . . . . ENSG00000122497:ENST00000369219:exon10:c.G1115A:p.G372D . . . . 1.0 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 16.0 . . . . . . . . . . -1.0865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . . . . . . . . ENSG00000122497 NBPF8 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.497 0.497000 . . 1.000000 . . 1.0E-111 . . . . . . . . . 0.497 . . . . . . 1 1538 255 1.I 0,0,255 +. 1 148017693 C T - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148017693 148017693 Chr1(GRCh37):g.148017693C>T 618-28 618-28 NM_015383.1:c.618-28G>A p.? p.? 6 5 614003 -28 3' 76.7699 7.52764 0.562481 3.41777 76.7699 7.52764 0.562481 III.18 0 rs3977244 yes no Frequency 1 0.000000 0 0.000361 0.002241 0.000000 0.000109 0.000221 0.000000 0.000399 0.000171 0.000695 0.002241 87 29 0 1 4 0 45 4 4 241158 12940 30660 9206 18100 28342 112792 23366 5752 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 29 0 1 4 0 45 4 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.512 0.286 111 PASS . . . . . . . . . . . . . . . . 1.0 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 9.0 . . . . . . . . . . 0.1853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . 0.48 0.37 182 ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs202238988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0076 0.0043 0 0.0046 0.0032 0.0014 0.0041 0.0056 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs3977244 rs3977244 rs3977244 rs202238988 1 1538 255 1.I 0,0,255 +. 1 148025668 G A - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution intron GRCh37 148025668 148025668 Chr1(GRCh37):g.148025668G>A 71+93 71+93 NM_015383.1:c.71+93C>T p.? p.? 1 1 614003 93 5' 90.6189 10.0684 0.964038 6.82243 90.6189 10.0684 0.964038 6.82243 0 Cryptic Donor Strongly Activated 148025670 63.976 1.56052 0.046039 72.0099 0.007640 0.012491 0.013932 0.004762 0.000688 0.000000 0.002601 0.023979 0.011628 0.023979 174 70 9 1 1 0 31 54 8 22774 5604 646 210 1454 0 11920 2252 688 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 174 70 9 1 1 0 31 54 8 0 0 0 0 0 0 0 0 0 RF 64 Genomes transition C T C>T 0.016 0.448 198 PASS . . . . . . . . . . . . . . . . 0.15789473 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 38.0 . . . . . . . . . . -0.3819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000122497 FLJ39739 NBPF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0125 0.0076 0.0139 0.0048 0.0007 0.0240 0.0026 0.0116 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148025844 A G - NBPF14 25232 Neuroblastoma breakpoint family, member 14 NM_015383.1 -1 3689 2766 NP_056198.1 Q5TI25 substitution 5'UTR GRCh37 148025844 148025844 Chr1(GRCh37):g.148025844A>G -13 -13 NM_015383.1:c.-13T>C p.? p.? 1 614003 -84 5' 90.6189 10.0684 0.964038 6.82243 90.6189 10.0684 0.964038 6.82243 0 rs200818786 yes no Frequency 1 0.000000 0 0.000332 0.002549 0.000030 0.000000 0.000163 0.000000 0.000264 0.000086 0.000167 0.002549 85 47 1 0 3 0 31 2 1 256050 18436 33402 9524 18416 29836 117316 23122 5998 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 47 1 0 3 0 31 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.732 192 PASS . . . . . . . . . . . UNKNOWN NBPF8:uc001eqf.4:exon7:c.T1008C:p.D336D NBPF8:NM_001037501:exon7:c.T1008C:p.D336D . . 0.14285715 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 42.0 . . . . . . . . . . -1.3767 . . . . . . . . 8.132e-06 . . . 0 1.202e-05 0 0 0 0 0 6.361e-05 0 1.004e-05 0 0 0 0 0 6.398e-05 unknown synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.78 0.55 182 ENSG00000122497 NBPF8 NBPF8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200818786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.242e-05 1.275e-05 0 0 0 0 1.868e-05 0 0 0.0099 0.0040 0.0015 0 0.0024 0.0007 0.0028 0.0014 . . . . -1.718 -1.718000 . . . . . 9.999999999999999E-193 . . . . . . . . . -1.718 . . rs9438309 rs9438309 rs9438309 rs200818786 1 1538 10 1/0 0,255,255 +. 1 148251852 T C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution 3'UTR GRCh37 148251852 148251852 Chr1(GRCh37):g.148251852T>C *23 *23 NM_001351365.1:c.*23A>G p.? p.? 93 614006 267 3' 92.7607 9.45065 0.981006 13.9884 92.7607 9.45065 0.981006 13.9884 0 Cryptic Acceptor Strongly Activated 148251837 5.37946 0.33415 90.7533 5.93181 0.456763 90.7533 rs782364082 yes no Frequency 1 0.000000 0 0.000007 0.000042 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000042 2 1 1 0 0 0 0 0 0 275882 23664 34404 10148 18832 30782 125998 25638 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.020 0.125 199 PASS . . . . . . . . . . . . . . . . 0.15789473 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 95.0 . . . . . . . . . . -0.1202 . . . . . . . . 7.893e-06 . . . 0 1.119e-05 0 0 0 2.402e-05 0 0 . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . . . . . 0.65 0.75 182 ENSG00000203832 . NBPF25P ENST00000369202:c.*23A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs782364082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.069e-06 2.978e-05 0 0 0 0 0 0 0.0001 3.317e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs17161529 rs4067641 rs4067641 rs4067641 1 1538 10 1/0 0,233,255 +. 1 148251852 T C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution 3'UTR GRCh37 148251852 148251852 Chr1(GRCh37):g.148251852T>C *23 *23 ENST00000369202.1:c.*23A>G p.? p.? 111 614007 267 3' 92.7607 9.45065 0.983009 13.2586 92.7607 9.45065 0.983009 13.2586 0 Cryptic Acceptor Strongly Activated 148251837 5.37946 0.33415 90.7533 5.93181 0.456763 90.7533 rs782364082 yes no Frequency 1 0.000000 0 0.000007 0.000042 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000042 2 1 1 0 0 0 0 0 0 275882 23664 34404 10148 18832 30782 125998 25638 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.020 0.125 199 PASS . . . . . . . . . . . . . . . . 0.15789473 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 95.0 . . . . . . . . . . -0.1202 . . . . . . . . 7.893e-06 . . . 0 1.119e-05 0 0 0 2.402e-05 0 0 . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . . . . . 0.65 0.75 182 ENSG00000203832 . NBPF25P ENST00000369202:c.*23A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs782364082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.069e-06 2.978e-05 0 0 0 0 0 0 0.0001 3.317e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs17161529 rs4067641 rs4067641 rs4067641 1 1538 10 1/0 0,233,255 +. (chr1:148251874 T/C) 1 148251874 T C Transcript NM_001351365.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) NBPF19 +. 1 148251874 T C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution 3'UTR GRCh37 148251874 148251874 Chr1(GRCh37):g.148251874T>C *1 *1 ENST00000369202.1:c.*1A>G p.? p.? 111 614007 245 3' 92.7607 9.45065 0.983009 13.2586 92.7607 9.45065 0.983009 13.2586 0 rs782220257 yes no Frequency 1 0.000000 0 0.000080 0.000688 0.000000 0.000000 0.000000 0.000032 0.000024 0.000039 0.000157 0.000688 22 16 0 0 0 1 3 1 1 274378 23240 34356 10126 18752 30782 125380 25370 6372 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 16 0 0 0 1 3 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.004 -1.167 194 PASS . . . . . . . . . . . . . . . . 0.14545454 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 110.0 . . . . . . . . . . -0.6992 . . . . . . . . 7.893e-06 . . . 0.0001 1.112e-05 0 0 0 0 0 0 0.0001 9.489e-06 0 0 0 0 0 0 . . . . . . UTR3 UTR3 ncRNA_exonic . . . . . . . 0.65 0.68 182 ENSG00000203832 . NBPF25P ENST00000369202:c.*1A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . rs782220257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 3.254e-05 0 0 0 0 0 0 3.249e-05 0.0011 0.0005 0 0 0 0.0003 0.0002 0.0011 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs495726 rs495726 rs495726 rs495726 1 1538 10 1/0 0,226,255 +. 1 148256736 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148256736 148256736 Chr1(GRCh37):g.148256736G>A 10686 10686 NM_001351365.1:c.10686C>T p.Tyr3562= p.Tyr3562Tyr 87 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.016 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3562 199 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon105:c.C13020T:p.Y4340Y . NBPF14:NM_015383:exon62:c.C7839T:p.Y2613Y . . 0.15730338 . . . 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 178.0 . . . . . . . . . . -0.4023 -0.234 -0.402 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-199 0.795 0.294 . 0.062 . . 0.092 . 0.201 . . . rs3926319 rs3926319 . . 1 1538 10 1/0 0,206,255 +. 1 148256736 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148256736 148256736 Chr1(GRCh37):g.148256736G>A 13020 13020 ENST00000369202.1:c.13020C>T p.Tyr4340= p.Tyr4340Tyr 105 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.016 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 4340 199 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon105:c.C13020T:p.Y4340Y . NBPF14:NM_015383:exon62:c.C7839T:p.Y2613Y . . 0.15730338 . . . 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 178.0 . . . . . . . . . . -0.4023 -0.234 -0.402 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-199 0.795 0.294 . 0.062 . . 0.092 . 0.201 . . . rs3926319 rs3926319 . . 1 1538 10 1/0 0,206,255 +. 1 148258288 C G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148258288 148258288 Chr1(GRCh37):g.148258288C>G 10447+29 10447+29 NM_001351365.1:c.10447+29G>C p.? p.? 85 85 614006 29 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.84794 0 transversion G C G>C 0.000 -0.682 191 PASS . . . . . . . . . . . . . . . . 0.1388889 . . . 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 1 148258288 C G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148258288 148258288 Chr1(GRCh37):g.148258288C>G 12781+29 12781+29 ENST00000369202.1:c.12781+29G>C p.? p.? 103 103 614007 29 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.84794 0 transversion G C G>C 0.000 -0.682 191 PASS . . . . . . . . . . . . . . . . 0.1388889 . . . 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 1 148260723 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148260723 148260723 Chr1(GRCh37):g.148260723G>T 10012 10012 NM_001351365.1:c.10012C>A p.Gln3338Lys p.Gln3338Lys 82 614006 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.000 -0.037 Q Gln CAA 0.256 K Lys AAA 0.425 3338 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 183 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon100:c.C12346A:p.Q4116K . . . . 0.12 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50.0 . . . . . . . . . . -1.3008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.08 . . . . . . . . . . . . . IV.28 . ENST00000369202 0.825 -0.321 . 0.270000 E7EWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.095 -0.095000 . . 0.270000 . . 1.0E-183 . . . . . . . . . -0.095 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148260723 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148260723 148260723 Chr1(GRCh37):g.148260723G>T 12346 12346 ENST00000369202.1:c.12346C>A p.Gln4116Lys p.Gln4116Lys 100 614007 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.000 -0.037 Q Gln CAA 0.256 K Lys AAA 0.425 4116 10 2 Sumatran orangutan 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Deleterious 0 IV.32 183 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon100:c.C12346A:p.Q4116K . . . . 0.12 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50.0 . . . . . . . . . . -1.3008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.08 . . . . . . . . . . . . . IV.28 . ENST00000369202 0.825 -0.321 . 0.270000 E7EWM5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.095 -0.095000 . . 0.270000 . . 1.0E-183 . . . . . . . . . -0.095 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148261500 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148261500 148261500 Chr1(GRCh37):g.148261500G>A 9954 9954 NM_001351365.1:c.9954C>T p.Tyr3318= p.Tyr3318Tyr 81 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 rs879962859 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3318 210 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon99:c.C12288T:p.Y4096Y . . . . 0.18461539 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 130.0 . . . . . . . . . . -0.4068 -0.237 -0.407 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-210 0.743 0.288 . 0.062 . . 0.092 . 0.201 . . . . . . . 1 1538 10 1/0 0,222,255 +. 1 148261500 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148261500 148261500 Chr1(GRCh37):g.148261500G>A 12288 12288 ENST00000369202.1:c.12288C>T p.Tyr4096= p.Tyr4096Tyr 99 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain rs879962859 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 4096 210 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon99:c.C12288T:p.Y4096Y . . . . 0.18461539 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 130.0 . . . . . . . . . . -0.4068 -0.237 -0.407 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-210 0.743 0.288 . 0.062 . . 0.092 . 0.201 . . . . . . . 1 1538 10 1/0 0,222,255 +. 1 148265483 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148265483 148265483 Chr1(GRCh37):g.148265483G>T 9280 9280 NM_001351365.1:c.9280C>A p.Gln3094Lys p.Gln3094Lys 76 614006 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 3094 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 233 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon94:c.C11614A:p.Q3872K . NBPF14:NM_015383:exon57:c.C7165A:p.Q2389K . . 0.25641027 . . . 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 39.0 . . . . . . . . . . -1.0808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET 0.08 . . . . . . . . . . . . . . . ENST00000369202 . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 0.149000 . . 0.340000 . . 1.0000000000000001E-233 . . . . . . . . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148265483 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148265483 148265483 Chr1(GRCh37):g.148265483G>T 11614 11614 ENST00000369202.1:c.11614C>A p.Gln3872Lys p.Gln3872Lys 94 614007 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 3872 10 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 233 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon94:c.C11614A:p.Q3872K . NBPF14:NM_015383:exon57:c.C7165A:p.Q2389K . . 0.25641027 . . . 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 39.0 . . . . . . . . . . -1.0808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET 0.08 . . . . . . . . . . . . . . . ENST00000369202 . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 0.149000 . . 0.340000 . . 1.0000000000000001E-233 . . . . . . . . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148266260 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148266260 148266260 Chr1(GRCh37):g.148266260G>A 9222 9222 NM_001351365.1:c.9222C>T p.Tyr3074= p.Tyr3074Tyr 75 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.020 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3074 186 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon93:c.C11556T:p.Y3852Y . NBPF14:NM_015383:exon56:c.C7107T:p.Y2369Y . . 0.1257485 . . . 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 167.0 . . . . . . . . . . -0.1506 -0.188 -0.151 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.970 0.340 . . . . 0.088 . . . . . . . . . 1 1538 10 1/0 0,206,255 +. 1 148266260 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148266260 148266260 Chr1(GRCh37):g.148266260G>A 11556 11556 ENST00000369202.1:c.11556C>T p.Tyr3852= p.Tyr3852Tyr 93 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.020 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3852 186 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon93:c.C11556T:p.Y3852Y . NBPF14:NM_015383:exon56:c.C7107T:p.Y2369Y . . 0.1257485 . . . 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 167.0 . . . . . . . . . . -0.1506 -0.188 -0.151 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.970 0.340 . . . . 0.088 . . . . . . . . . 1 1538 10 1/0 0,206,255 +. 1 148267848 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148267848 148267848 Chr1(GRCh37):g.148267848G>A 8976 8976 NM_001351365.1:c.8976C>T p.Asp2992= p.Asp2992Asp 73 614006 -8 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.87041 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16616 1490 2400 384 3320 2266 6100 154 502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 52 Exomes transition C T C>T 0.000 -14.080 D Asp GAC 0.539 D Asp GAT 0.461 2992 182 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon91:c.C11310T:p.D3770D . . . . 0.11764706 . . . 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 68.0 . . . . . . . . . . -0.3809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 148267848 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148267848 148267848 Chr1(GRCh37):g.148267848G>A 11310 11310 ENST00000369202.1:c.11310C>T p.Asp3770= p.Asp3770Asp 91 614007 -8 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.87041 0 Neuroblastoma breakpoint family (NBPF) domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16616 1490 2400 384 3320 2266 6100 154 502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 52 Exomes transition C T C>T 0.000 -14.080 D Asp GAC 0.539 D Asp GAT 0.461 3770 182 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon91:c.C11310T:p.D3770D . . . . 0.11764706 . . . 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 68.0 . . . . . . . . . . -0.3809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 1 148269422 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148269422 148269422 Chr1(GRCh37):g.148269422C>T 8758+15 8758+15 NM_001351365.1:c.8758+15G>A p.? p.? 71 71 614006 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.024 -1.651 183 PASS . . . . . . . . . . . . . . . . 0.121212125 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 66.0 . . . . . . . . . . -0.7379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +. 1 148269422 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148269422 148269422 Chr1(GRCh37):g.148269422C>T 11092+15 11092+15 ENST00000369202.1:c.11092+15G>A p.? p.? 89 89 614007 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.024 -1.651 183 PASS . . . . . . . . . . . . . . . . 0.121212125 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 66.0 . . . . . . . . . . -0.7379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +. 1 148270255 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148270255 148270255 Chr1(GRCh37):g.148270255G>T 8548 8548 NM_001351365.1:c.8548C>A p.Gln2850Lys p.Gln2850Lys 70 614006 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.000 0.448 Q Gln CAA 0.256 K Lys AAA 0.425 2850 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 191 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon88:c.C10882A:p.Q3628K . . . . 0.13953489 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.077 . . . . . . . 1 0.046 . . 43.0 . . . . . . . . . . -1.0124 -1.167 -1.012 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.151 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.011 . . 0.455 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.259 . . 0.227 . . . . . . 4 . . . . . . . . 0.097 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000369202 0.326 0.326 . 0.160000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.427 0.427000 . . 0.160000 . . 1.0E-191 0.013 0.187 . 0.174 . . 0.282 . 0.245 0.427 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148270255 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148270255 148270255 Chr1(GRCh37):g.148270255G>T 10882 10882 ENST00000369202.1:c.10882C>A p.Gln3628Lys p.Gln3628Lys 88 614007 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.000 0.448 Q Gln CAA 0.256 K Lys AAA 0.425 3628 10 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 191 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon88:c.C10882A:p.Q3628K . . . . 0.13953489 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.077 . . . . . . . 1 0.046 . . 43.0 . . . . . . . . . . -1.0124 -1.167 -1.012 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.151 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.011 . . 0.455 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.259 . . 0.227 . . . . . . 4 . . . . . . . . 0.097 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000369202 0.326 0.326 . 0.160000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.427 0.427000 . . 0.160000 . . 1.0E-191 0.013 0.187 . 0.174 . . 0.282 . 0.245 0.427 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148271032 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148271032 148271032 Chr1(GRCh37):g.148271032G>A 8490 8490 NM_001351365.1:c.8490C>T p.Tyr2830= p.Tyr2830Tyr 69 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.000 -0.521 Y Tyr TAC 0.562 Y Tyr TAT 0.438 2830 189 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon87:c.C10824T:p.Y3608Y . . . . 0.13245033 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 1 148271032 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148271032 148271032 Chr1(GRCh37):g.148271032G>A 10824 10824 ENST00000369202.1:c.10824C>T p.Tyr3608= p.Tyr3608Tyr 87 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.000 -0.521 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3608 189 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon87:c.C10824T:p.Y3608Y . . . . 0.13245033 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 1 148274264 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148274264 148274264 Chr1(GRCh37):g.148274264G>T 7971 7971 NM_001351365.1:c.7971C>A p.Ser2657Arg p.Ser2657Arg 65 614006 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 transversion C A C>A 0.012 -1.732 S Ser AGC 0.243 R Arg AGA 0.205 2657 11 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon83:c.C10305A:p.S3435R . NBPF14:NM_015383:exon46:c.C5856A:p.S1952R . . 0.104761906 . . . 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . . . . . . . 1 0.067 . . 105.0 . . . . . . . . . . -1.9056 -2.031 -1.906 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.39 182 ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.123 0.005 . . 37 . 0.005 . . 0.428 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.181 . . 0.227 . . . . . . 5 . . . . . . . . 0.289 . LowAF 1 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.841 -1.841000 . . 1.000000 . . 1.0E-176 0.014 0.188 . 0.234 0.029 . 0.139 . 0.166 -1.841 0.562 . . . . . 1 1538 10 1/0 0,224,255 +. 1 148274264 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148274264 148274264 Chr1(GRCh37):g.148274264G>T 10305 10305 ENST00000369202.1:c.10305C>A p.Ser3435Arg p.Ser3435Arg 83 614007 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 Neuroblastoma breakpoint family (NBPF) domain transversion C A C>A 0.012 -1.732 S Ser AGC 0.243 R Arg AGA 0.205 3435 10 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon83:c.C10305A:p.S3435R . NBPF14:NM_015383:exon46:c.C5856A:p.S1952R . . 0.104761906 . . . 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . . . . . . . 1 0.067 . . 105.0 . . . . . . . . . . -1.9056 -2.031 -1.906 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.39 182 ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.123 0.005 . . 37 . 0.005 . . 0.428 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.181 . . 0.227 . . . . . . 5 . . . . . . . . 0.289 . LowAF 1 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.841 -1.841000 . . 1.000000 . . 1.0E-176 0.014 0.188 . 0.234 0.029 . 0.139 . 0.166 -1.841 0.562 . . . . . 1 1538 10 1/0 0,224,255 +. 1 148275796 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148275796 148275796 Chr1(GRCh37):g.148275796G>A 7758 7758 NM_001351365.1:c.7758C>T p.Tyr2586= p.Tyr2586Tyr 63 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 2586 211 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon81:c.C10092T:p.Y3364Y . NBPF14:NM_015383:exon44:c.C5643T:p.Y1881Y . . 0.1875 . . . 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 160.0 . . . . . . . . . . -0.1500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +. 1 148275796 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148275796 148275796 Chr1(GRCh37):g.148275796G>A 10092 10092 ENST00000369202.1:c.10092C>T p.Tyr3364= p.Tyr3364Tyr 81 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 3364 211 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon81:c.C10092T:p.Y3364Y . NBPF14:NM_015383:exon44:c.C5643T:p.Y1881Y . . 0.1875 . . . 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 160.0 . . . . . . . . . . -0.1500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +. 1 148278815 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148278815 148278815 Chr1(GRCh37):g.148278815A>G 7629-2890 7629-2890 NM_001351365.1:c.7629-2890T>C p.? p.? 63 62 614006 -2890 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 transition T C T>C 0.000 -14.080 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278815 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148278815 148278815 Chr1(GRCh37):g.148278815A>G 9628+156 9628+156 ENST00000369202.1:c.9628+156T>C p.? p.? 77 77 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.000 -14.080 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278817 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148278817 148278817 Chr1(GRCh37):g.148278817T>G 7629-2892 7629-2892 NM_001351365.1:c.7629-2892A>C p.? p.? 63 62 614006 -2892 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 Cryptic Acceptor Strongly Activated 148278808 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.11363637 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44.0 . . . . . . . . . . -0.3839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278817 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148278817 148278817 Chr1(GRCh37):g.148278817T>G 9628+154 9628+154 ENST00000369202.1:c.9628+154A>C p.? p.? 77 77 614007 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148278808 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.11363637 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44.0 . . . . . . . . . . -0.3839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278901 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148278901 148278901 Chr1(GRCh37):g.148278901T>G 7629-2976 7629-2976 NM_001351365.1:c.7629-2976A>C p.? p.? 63 62 614006 -2976 3' 88.6311 10.0629 0.93601 XI.08 88.6311 10.0629 0.93601 XI.08 0 Cryptic Acceptor Strongly Activated 148278898 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -1.328 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42.0 . . . . . . . . . . -0.7271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148278901 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148278901 148278901 Chr1(GRCh37):g.148278901T>G 9628+70 9628+70 ENST00000369202.1:c.9628+70A>C p.? p.? 77 77 614007 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148278898 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -1.328 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42.0 . . . . . . . . . . -0.7271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148282149 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148282149 148282149 Chr1(GRCh37):g.148282149C>T 7628+791 7628+791 NM_001351365.1:c.7628+791G>A p.? p.? 62 62 614006 791 5' 82.9417 6.60005 0.50637 2.51073 82.9417 6.60005 0.50637 2.51073 0 transition G A G>A 0.024 -1.328 185 PASS . . . . . . . . . . . . . . . . 0.125 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 64.0 . . . . . . . . . . -0.6734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 1 148282149 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148282149 148282149 Chr1(GRCh37):g.148282149C>T 9121+15 9121+15 ENST00000369202.1:c.9121+15G>A p.? p.? 73 73 614007 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.024 -1.328 185 PASS . . . . . . . . . . . . . . . . 0.125 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 64.0 . . . . . . . . . . -0.6734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 1 148285201 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285201 148285201 Chr1(GRCh37):g.148285201A>G 7347-1266 7347-1266 NM_001351365.1:c.7347-1266T>C p.? p.? 61 60 614006 -1266 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transition T C T>C 0.000 -14.080 239 PASS . . . . . . . . . . . . . . . . 0.28 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285201 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148285201 148285201 Chr1(GRCh37):g.148285201A>G 8614+156 8614+156 ENST00000369202.1:c.8614+156T>C p.? p.? 69 69 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.000 -14.080 239 PASS . . . . . . . . . . . . . . . . 0.28 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285203 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285203 148285203 Chr1(GRCh37):g.148285203T>G 7347-1268 7347-1268 NM_001351365.1:c.7347-1268A>C p.? p.? 61 60 614006 -1268 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 148285194 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 227 PASS . . . . . . . . . . . . . . . . 0.24 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285203 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148285203 148285203 Chr1(GRCh37):g.148285203T>G 8614+154 8614+154 ENST00000369202.1:c.8614+154A>C p.? p.? 69 69 614007 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148285194 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.000 -14.080 227 PASS . . . . . . . . . . . . . . . . 0.24 . . . 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285287 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285287 148285287 Chr1(GRCh37):g.148285287T>G 7347-1352 7347-1352 NM_001351365.1:c.7347-1352A>C p.? p.? 61 60 614006 -1352 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 Cryptic Acceptor Strongly Activated 148285284 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -14.080 233 PASS . . . . . . . . . . . . . . . . 0.25581396 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.1221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285287 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148285287 148285287 Chr1(GRCh37):g.148285287T>G 8614+70 8614+70 ENST00000369202.1:c.8614+70A>C p.? p.? 69 69 614007 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148285284 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -14.080 233 PASS . . . . . . . . . . . . . . . . 0.25581396 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.1221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148285342 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285342 148285342 Chr1(GRCh37):g.148285342C>T 7347-1407 7347-1407 NM_001351365.1:c.7347-1407G>A p.? p.? 61 60 614006 -1407 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transition G A G>A 0.000 -14.080 195 PASS . . . . . . . . . . . . . . . . 0.14754099 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 148285342 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148285342 148285342 Chr1(GRCh37):g.148285342C>T 8614+15 8614+15 ENST00000369202.1:c.8614+15G>A p.? p.? 69 69 614007 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.000 -14.080 195 PASS . . . . . . . . . . . . . . . . 0.14754099 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 148285412 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148285412 148285412 Chr1(GRCh37):g.148285412G>T 7347-1477 7347-1477 NM_001351365.1:c.7347-1477C>A p.? p.? 61 60 614006 -1477 3' 92.4702 XI.64 0.984111 13.0274 92.4702 XI.64 0.984111 13.0274 0 transversion C A C>A 0.004 -2.377 177 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon69:c.C8559A:p.S2853R . . . . 0.10784314 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.012 . . . . . . . 2 0.067 . . 102.0 . . . . . . . . . . -1.6579 -1.868 -1.658 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . 0.000 0.044 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . 0.004 . . 0.434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . 0.231 . LowAF 1 . . . . . . . . . . . . . . . ENST00000369202 . . . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.384 -2.384000 . . 1.000000 . . 1.0E-177 0.016 0.191 . . 0.027 . 0.138 . . -2.384 0.557 . . . . . 1 1538 10 1/0 0,226,255 +. 1 148285412 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148285412 148285412 Chr1(GRCh37):g.148285412G>T 8559 8559 ENST00000369202.1:c.8559C>A p.Ser2853Arg p.Ser2853Arg 69 614007 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 Neuroblastoma breakpoint family (NBPF) domain transversion C A C>A 0.004 -2.377 S Ser AGC 0.243 R Arg AGA 0.205 2853 10 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 177 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon69:c.C8559A:p.S2853R . . . . 0.10784314 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.012 . . . . . . . 2 0.067 . . 102.0 . . . . . . . . . . -1.6579 -1.868 -1.658 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 AF380582 NBPF25P . . . 0.000 0.044 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . 0.004 . . 0.434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . 0.231 . LowAF 1 . . . . . . . . . . . . . . . ENST00000369202 . . . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.384 -2.384000 . . 1.000000 . . 1.0E-177 0.016 0.191 . . 0.027 . 0.138 . . -2.384 0.557 . . . . . 1 1538 10 1/0 0,226,255 +. 1 148288394 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148288394 148288394 Chr1(GRCh37):g.148288394A>G 7294+156 7294+156 NM_001351365.1:c.7294+156T>C p.? p.? 59 59 614006 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29.0 . . . . . . . . . . -0.3758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148288394 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148288394 148288394 Chr1(GRCh37):g.148288394A>G 8107+156 8107+156 ENST00000369202.1:c.8107+156T>C p.? p.? 65 65 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29.0 . . . . . . . . . . -0.3758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148293164 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148293164 148293164 Chr1(GRCh37):g.148293164A>G 6562+156 6562+156 NM_001351365.1:c.6562+156T>C p.? p.? 53 53 614006 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.000 -1.732 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32.0 . . . . . . . . . . -0.7223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148293164 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148293164 148293164 Chr1(GRCh37):g.148293164A>G 7375+156 7375+156 ENST00000369202.1:c.7375+156T>C p.? p.? 59 59 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.000 -1.732 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32.0 . . . . . . . . . . -0.7223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148298908 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148298908 148298908 Chr1(GRCh37):g.148298908G>T 5620 5620 NM_001351365.1:c.5620C>A p.Gln1874Lys p.Gln1874Lys 46 614006 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 1874 11 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 190 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon52:c.C6433A:p.Q2145K . . . . 0.1388889 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36.0 . . . . . . . . . . -0.7387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.11 . . . . . . . . . . . . . . . . . . . 0.200000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 0.149000 . . 0.200000 . . 1.0E-190 . . . . . . . . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148298908 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148298908 148298908 Chr1(GRCh37):g.148298908G>T 6433 6433 ENST00000369202.1:c.6433C>A p.Gln2145Lys p.Gln2145Lys 52 614007 15 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.375057 4.59056 0.104079 transversion C A C>A 0.114 0.125 Q Gln CAA 0.256 K Lys AAA 0.425 2145 10 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Not scored 0.0 0.0 190 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon52:c.C6433A:p.Q2145K . . . . 0.1388889 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36.0 . . . . . . . . . . -0.7387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.11 . . . . . . . . . . . . . . . . . . . 0.200000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 0.149000 . . 0.200000 . . 1.0E-190 . . . . . . . . . 0.149 . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148302694 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148302694 148302694 Chr1(GRCh37):g.148302694A>G 5098+156 5098+156 NM_001351365.1:c.5098+156T>C p.? p.? 41 41 614006 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41.0 . . . . . . . . . . -0.3994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.46 0.29 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148302694 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148302694 148302694 Chr1(GRCh37):g.148302694A>G 5911+156 5911+156 ENST00000369202.1:c.5911+156T>C p.? p.? 47 47 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41.0 . . . . . . . . . . -0.3994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.46 0.29 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148302696 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148302696 148302696 Chr1(GRCh37):g.148302696T>G 5098+154 5098+154 NM_001351365.1:c.5098+154A>C p.? p.? 41 41 614006 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148302687 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.012 0.125 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148302696 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148302696 148302696 Chr1(GRCh37):g.148302696T>G 5911+154 5911+154 ENST00000369202.1:c.5911+154A>C p.? p.? 47 47 614007 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148302687 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.012 0.125 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148307464 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148307464 148307464 Chr1(GRCh37):g.148307464A>G 4366+156 4366+156 NM_001351365.1:c.4366+156T>C p.? p.? 35 35 614006 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148307464 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148307464 148307464 Chr1(GRCh37):g.148307464A>G 5179+156 5179+156 ENST00000369202.1:c.5179+156T>C p.? p.? 41 41 614007 156 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 transition T C T>C 0.016 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.3805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148307466 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148307466 148307466 Chr1(GRCh37):g.148307466T>G 4366+154 4366+154 NM_001351365.1:c.4366+154A>C p.? p.? 35 35 614006 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148307457 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.012 0.125 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44.0 . . . . . . . . . . -0.3838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148307466 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148307466 148307466 Chr1(GRCh37):g.148307466T>G 5179+154 5179+154 ENST00000369202.1:c.5179+154A>C p.? p.? 41 41 614007 154 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.0184 0 Cryptic Acceptor Strongly Activated 148307457 6.9e-05 0.120325 0.000384 68.3734 transversion A C A>C 0.012 0.125 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . . 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44.0 . . . . . . . . . . -0.3838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148308576 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148308576 148308576 Chr1(GRCh37):g.148308576G>A 4142-120 4142-120 NM_001351365.1:c.4142-120C>T p.? p.? 34 33 614006 -120 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.285815 4.69721 0 Cryptic Acceptor Weakly Activated 148308571 3.15285 0.19486 81.1871 III.25 0.152297 84.7327 transition C T C>T 0.016 0.125 252 PASS . . . . . . . . . . . . . . . . 0.32142857 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148308576 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148308576 148308576 Chr1(GRCh37):g.148308576G>A 4955-120 4955-120 ENST00000369202.1:c.4955-120C>T p.? p.? 40 39 614007 -120 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.285815 4.69721 0 Cryptic Acceptor Weakly Activated 148308571 3.15285 0.19486 81.1871 III.25 0.152297 84.7327 transition C T C>T 0.016 0.125 252 PASS . . . . . . . . . . . . . . . . 0.32142857 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148309219 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148309219 148309219 Chr1(GRCh37):g.148309219G>A 4098 4098 NM_001351365.1:c.4098C>T p.Tyr1366= p.Tyr1366Tyr 33 614006 -44 5' 86.8199 10.1256 0.988158 6.52279 86.8199 10.1256 0.988158 6.02322 0 transition C T C>T 0.004 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1366 180 PASS . . . . . . . . . . . . . NBPF14:NM_015383:exon38:c.C4911T:p.Y1637Y . . 0.11299435 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.38 0.25 182 ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . rs3926319 . . . 1 1538 10 1/0 0,203,255 +. 1 148309219 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148309219 148309219 Chr1(GRCh37):g.148309219G>A 4911 4911 ENST00000369202.1:c.4911C>T p.Tyr1637= p.Tyr1637Tyr 39 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain transition C T C>T 0.004 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1637 180 PASS . . . . . . . . . . . . . NBPF14:NM_015383:exon38:c.C4911T:p.Y1637Y . . 0.11299435 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.38 0.25 182 ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . rs3926319 . . . 1 1538 10 1/0 0,203,255 +. 1 148312371 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148312371 148312371 Chr1(GRCh37):g.148312371C>T 3634+15 3634+15 NM_001351365.1:c.3634+15G>A p.? p.? 29 29 614006 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.067 0.125 195 PASS . . . . . . . . . . . . . . . . 0.14754099 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.47 0.24 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 148312371 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148312371 148312371 Chr1(GRCh37):g.148312371C>T 4447+15 4447+15 ENST00000369202.1:c.4447+15G>A p.? p.? 35 35 614007 15 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.11758 0 transition G A G>A 0.067 0.125 195 PASS . . . . . . . . . . . . . . . . 0.14754099 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.47 0.24 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 1 148315533 C G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148315533 148315533 Chr1(GRCh37):g.148315533C>G 3127+29 3127+29 NM_001351365.1:c.3127+29G>C p.? p.? 25 25 614006 29 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.84794 0 transversion G C G>C 0.319 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56.0 . . . . . . . . . . 0.0783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.36 0.15 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . rs71272184 . . 1 1538 10 1/0 0,253,255 +. 1 148315533 C G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148315533 148315533 Chr1(GRCh37):g.148315533C>G 3940+29 3940+29 ENST00000369202.1:c.3940+29G>C p.? p.? 31 31 614007 29 5' 92.583 10.0326 0.99302 6.13407 92.583 10.0326 0.99302 5.84794 0 transversion G C G>C 0.319 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56.0 . . . . . . . . . . 0.0783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.36 0.15 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . rs71272184 . . 1 1538 10 1/0 0,253,255 +. 1 148317084 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148317084 148317084 Chr1(GRCh37):g.148317084T>G 2902+70 2902+70 NM_001351365.1:c.2902+70A>C p.? p.? 23 23 614006 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148317081 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.055 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148317084 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148317084 148317084 Chr1(GRCh37):g.148317084T>G 3715+70 3715+70 ENST00000369202.1:c.3715+70A>C p.? p.? 29 29 614007 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148317081 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.055 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148318753 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148318753 148318753 Chr1(GRCh37):g.148318753G>A 2634 2634 NM_001351365.1:c.2634C>T p.Tyr878= p.Tyr878Tyr 21 614006 -44 5' 86.8199 10.1256 0.988158 6.0602 86.8199 10.1256 0.988158 5.56063 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 878 204 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon27:c.C3447T:p.Y1149Y . NBPF14:NM_015383:exon26:c.C3447T:p.Y1149Y . . 0.17021276 . . . 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 141.0 . . . . . . . . . . -0.1371 -0.178 -0.137 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.25 182 ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-204 0.000 0.063 . 0.043 . . 0.130 . 0.269 . . . rs4101264 . . . 1 1538 10 1/0 0,217,255 +. 1 148318753 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148318753 148318753 Chr1(GRCh37):g.148318753G>A 3447 3447 ENST00000369202.1:c.3447C>T p.Tyr1149= p.Tyr1149Tyr 27 614007 -44 5' 86.8199 10.1256 0.988158 7.56796 86.8199 10.1256 0.988158 7.06096 0 Neuroblastoma breakpoint family (NBPF) domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.024 0.125 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1149 204 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon27:c.C3447T:p.Y1149Y . NBPF14:NM_015383:exon26:c.C3447T:p.Y1149Y . . 0.17021276 . . . 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 141.0 . . . . . . . . . . -0.1371 -0.178 -0.137 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.25 182 ENSG00000203832 NBPF14 NBPF14 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-204 0.000 0.063 . 0.043 . . 0.130 . 0.269 . . . rs4101264 . . . 1 1538 10 1/0 0,217,255 +. 1 148321836 T G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148321836 148321836 Chr1(GRCh37):g.148321836T>G 2170+70 2170+70 NM_001351365.1:c.2170+70A>C p.? p.? 17 17 614006 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148321833 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -1.328 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60.0 . . . . . . . . . . -0.7220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.52 0.36 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 1 148321836 T G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148321836 148321836 Chr1(GRCh37):g.148321836T>G 2983+70 2983+70 ENST00000369202.1:c.2983+70A>C p.? p.? 23 23 614007 70 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 5.33971 0 Cryptic Acceptor Strongly Activated 148321833 1.72468 0.003331 72.4602 4.75533 0.236686 82.4276 transversion A C A>C 0.000 -1.328 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60.0 . . . . . . . . . . -0.7220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.52 0.36 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 1 148321961 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148321961 148321961 Chr1(GRCh37):g.148321961G>T 2115 2115 NM_001351365.1:c.2115C>A p.Ser705Arg p.Ser705Arg 17 614006 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.016 -1.732 S Ser AGC 0.243 R Arg AGA 0.205 705 11 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon23:c.C2928A:p.S976R NBPF14:uc021owp.2:exon22:c.C2928A:p.S976R NBPF14:NM_015383:exon22:c.C2928A:p.S976R . . 0.11235955 . . . 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 89.0 . . . . . . . . . . -1.5844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . ENST00000369202 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.841 -1.841000 . . 1.000000 . . 1.0E-179 . . . . . . . . . -1.841 . . . . . . 1 1538 10 1/0 0,232,255 +. 1 148321961 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148321961 148321961 Chr1(GRCh37):g.148321961G>T 2928 2928 ENST00000369202.1:c.2928C>A p.Ser976Arg p.Ser976Arg 23 614007 -56 5' 74.2807 8.34018 0.667515 5.0184 74.2807 8.34018 0.667515 4.55579 0 Neuroblastoma breakpoint family (NBPF) domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.016 -1.732 S Ser AGC 0.243 R Arg AGA 0.205 976 10 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon23:c.C2928A:p.S976R NBPF14:uc021owp.2:exon22:c.C2928A:p.S976R NBPF14:NM_015383:exon22:c.C2928A:p.S976R . . 0.11235955 . . . 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . 1 . . . 89.0 . . . . . . . . . . -1.5844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . ENST00000369202 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.841 -1.841000 . . 1.000000 . . 1.0E-179 . . . . . . . . . -1.841 . . . . . . 1 1538 10 1/0 0,232,255 +. 1 148322819 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148322819 148322819 Chr1(GRCh37):g.148322819A>G 1946-81 1946-81 NM_001351365.1:c.1946-81T>C p.? p.? 16 15 614006 -81 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.285815 4.26379 0 Cryptic Donor Strongly Activated 148322817 1.883 0.189652 64.9151 4.04382 0.312029 69.0431 transition T C T>C 0.016 0.125 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148322819 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148322819 148322819 Chr1(GRCh37):g.148322819A>G 2759-81 2759-81 ENST00000369202.1:c.2759-81T>C p.? p.? 22 21 614007 -81 3' 79.9778 7.65671 0.285815 4.69721 79.9778 7.65671 0.285815 4.26379 0 Cryptic Donor Strongly Activated 148322817 1.883 0.189652 64.9151 4.04382 0.312029 69.0431 transition T C T>C 0.016 0.125 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148327325 A C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148327325 148327325 Chr1(GRCh37):g.148327325A>C 1265+124 1265+124 NM_001351365.1:c.1265+124T>G p.? p.? 10 10 614006 124 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion T G T>G 0.000 0.367 236 PASS . . . . . . . . . . . . . . . . 0.26923078 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148327325 A C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148327325 148327325 Chr1(GRCh37):g.148327325A>C 2078+124 2078+124 ENST00000369202.1:c.2078+124T>G p.? p.? 16 16 614007 124 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 transversion T G T>G 0.000 0.367 236 PASS . . . . . . . . . . . . . . . . 0.26923078 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26.0 . . . . . . . . . . -0.4187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148327333 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148327333 148327333 Chr1(GRCh37):g.148327333G>T 1265+116 1265+116 NM_001351365.1:c.1265+116C>A p.? p.? 10 10 614006 116 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 rs201097514 no no 0 0.000000 0 transversion C A C>A 0.008 -0.521 239 PASS . . . . . . . . . . . . . . . . 0.28 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.47 0.24 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201097514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . rs201097514 rs201097514 1 1538 10 1/0 0,255,255 +. 1 148327333 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148327333 148327333 Chr1(GRCh37):g.148327333G>T 2078+116 2078+116 ENST00000369202.1:c.2078+116C>A p.? p.? 16 16 614007 116 5' 87.304 VIII.64 0.955794 2.40291 87.304 VIII.64 0.955794 2.40291 0 rs201097514 no no 0 0.000000 0 transversion C A C>A 0.008 -0.521 239 PASS . . . . . . . . . . . . . . . . 0.28 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25.0 . . . . . . . . . . -0.5228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.47 0.24 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201097514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . rs201097514 rs201097514 1 1538 10 1/0 0,255,255 +. 1 148328284 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution synonymous exon GRCh37 148328284 148328284 Chr1(GRCh37):g.148328284C>T 1149 1149 NM_001351365.1:c.1149G>A p.Gln383= p.Gln383Gln 9 614006 -65 5' 86.8199 10.1256 0.988158 7.10537 86.8199 10.1256 0.988158 7.0742 0 Cryptic Acceptor Strongly Activated 148328275 0.084175 4.01193 0.05893 76.2826 0.000155 0.000000 0.000000 0.000000 0.000000 0.000000 0.000426 0.002674 0.000000 0.002674 5 0 0 0 0 0 4 1 0 32268 3974 6886 794 5528 4406 9398 374 908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 4 1 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.091 0.205 Q Gln CAG 0.744 Q Gln CAA 0.256 383 221 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon15:c.G1962A:p.Q654Q NBPF14:uc021owp.2:exon14:c.G1962A:p.Q654Q NBPF14:NM_015383:exon14:c.G1962A:p.Q654Q . . 0.2173913 . . . 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0033 0.0004 0 0 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 148328284 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148328284 148328284 Chr1(GRCh37):g.148328284C>T 1962 1962 ENST00000369202.1:c.1962G>A p.Gln654= p.Gln654Gln 15 614007 -65 5' 86.8199 10.1256 0.988158 7.15508 86.8199 10.1256 0.988158 7.12391 0 Cryptic Acceptor Strongly Activated 148328275 0.084175 4.01193 0.05893 76.2826 Neuroblastoma breakpoint family (NBPF) domain 0.000155 0.000000 0.000000 0.000000 0.000000 0.000000 0.000426 0.002674 0.000000 0.002674 5 0 0 0 0 0 4 1 0 32268 3974 6886 794 5528 4406 9398 374 908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 4 1 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.091 0.205 Q Gln CAG 0.744 Q Gln CAA 0.256 654 221 PASS . . . . . . . . . . . ENSG00000203832:ENST00000369202:exon15:c.G1962A:p.Q654Q NBPF14:uc021owp.2:exon14:c.G1962A:p.Q654Q NBPF14:NM_015383:exon14:c.G1962A:p.Q654Q . . 0.2173913 . . . 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 NBPF14 NBPF14 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0033 0.0004 0 0 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 1 148329097 G T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148329097 148329097 Chr1(GRCh37):g.148329097G>T 989-16 989-16 NM_001351365.1:c.989-16C>A p.? p.? 8 7 614006 -16 3' 88.1024 8.49409 0.879036 3.66975 88.1024 7.45302 0.828629 2.78636 -0.0599691 148329094 -20.2941 0.000963 0.002000 0.001087 0.000000 0.000000 0.000714 0.001497 0.000000 0.000000 0.002000 6 1 2 0 0 1 2 0 0 6230 500 1840 120 812 1400 1336 20 202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 2 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 109 Exomes transversion C A C>A 0.098 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53.0 . . . . . . . . . . -0.1139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 0.0010 0.0011 0 0 0 0.0015 0 0.0007 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9424637 rs9424637 rs9424637 rs77984602 1 1538 10 1/0 0,255,255 +. 1 148329097 G T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148329097 148329097 Chr1(GRCh37):g.148329097G>T 1802-16 1802-16 ENST00000369202.1:c.1802-16C>A p.? p.? 14 13 614007 -16 3' 88.1024 8.49409 0.916777 3.17618 88.1024 7.45302 0.873668 2.29279 -0.0565287 148329094 -20.2941 0.000963 0.002000 0.001087 0.000000 0.000000 0.000714 0.001497 0.000000 0.000000 0.002000 6 1 2 0 0 1 2 0 0 6230 500 1840 120 812 1400 1336 20 202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 2 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 109 Exomes transversion C A C>A 0.098 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53.0 . . . . . . . . . . -0.1139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 0.0010 0.0011 0 0 0 0.0015 0 0.0007 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9424637 rs9424637 rs9424637 rs77984602 1 1538 10 1/0 0,255,255 +. 1 148329184 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148329184 148329184 Chr1(GRCh37):g.148329184G>A 989-103 989-103 NM_001351365.1:c.989-103C>T p.? p.? 8 7 614006 -103 3' 88.1024 8.49409 0.879036 3.66975 88.1024 8.49409 0.879036 3.66975 0 Cryptic Acceptor Strongly Activated 148329176 0.443656 6,00E-05 60.5109 0.565903 6.8e-05 62.3208 transition C T C>T 0.106 0.125 189 PASS . . . . . . . . . . . . . . . . 0.13513513 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37.0 . . . . . . . . . . -0.3705 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.34 0.25 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs9438344 rs9438344 rs9438344 rs9438344 1 1538 10 1/0 0,255,255 +. 1 148329184 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148329184 148329184 Chr1(GRCh37):g.148329184G>A 1802-103 1802-103 ENST00000369202.1:c.1802-103C>T p.? p.? 14 13 614007 -103 3' 88.1024 8.49409 0.916777 3.17618 88.1024 8.49409 0.916777 3.17618 0 Cryptic Acceptor Strongly Activated 148329176 0.443656 6,00E-05 60.5109 0.565903 6.8e-05 62.3208 transition C T C>T 0.106 0.125 189 PASS . . . . . . . . . . . . . . . . 0.13513513 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37.0 . . . . . . . . . . -0.3705 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.34 0.25 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs9438344 rs9438344 rs9438344 rs9438344 1 1538 10 1/0 0,255,255 +. 1 148330178 T C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148330178 148330178 Chr1(GRCh37):g.148330178T>C 934 934 NM_001351365.1:c.934A>G p.Ser312Gly p.Ser312Gly 7 614006 -55 5' 71.5327 7.394 0.757364 3.10064 71.5327 7.394 0.757364 3.51177 0 Cryptic Acceptor Weakly Activated 148330159 0.803954 0.080489 75.4773 1.82989 0.08342 75.4773 transition A G A>G 0.000 0.528 S Ser AGC 0.243 G Gly GGC 0.342 312 11 5 Armadillo 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Deleterious 0.04 IV.32 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . . . . . . . 1 0.195 . . 63.0 . . . . . . . . . . -0.6911 -0.933 -0.691 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.163 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.144 . . 0.062 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.715 . . 0.722 . . . . . . 3 . . . . . . . . 0.326 . LowAF 0.17 . . . . . . . . . . . . . . . . 0.547 0.547 . 0.170000 . . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.514 0.514000 . . 0.170000 . . 1.0E-179 0.000 0.063 . 0.062 0.204 . 0.114 . 0.271 0.514 0.615 . . rs71232007 rs71232007 rs71232007 1 1538 10 1/0 0,247,255 +. 1 148330178 T C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148330178 148330178 Chr1(GRCh37):g.148330178T>C 1747 1747 ENST00000369202.1:c.1747A>G p.Ser583Gly p.Ser583Gly 13 614007 -55 5' 71.5327 7.394 0.757364 3.10064 71.5327 7.394 0.757364 3.51177 0 Cryptic Acceptor Weakly Activated 148330159 0.803954 0.080489 75.4773 1.82989 0.08342 75.4773 Neuroblastoma breakpoint family (NBPF) domain transition A G A>G 0.000 0.528 S Ser AGC 0.243 G Gly GGC 0.342 583 10 4 Armadillo 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Deleterious 0.02 IV.32 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . . . . . . . 1 0.195 . . 63.0 . . . . . . . . . . -0.6911 -0.933 -0.691 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.163 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.144 . . 0.062 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.715 . . 0.722 . . . . . . 3 . . . . . . . . 0.326 . LowAF 0.17 . . . . . . . . . . . . . . . . 0.547 0.547 . 0.170000 . . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.514 0.514000 . . 0.170000 . . 1.0E-179 0.000 0.063 . 0.062 0.204 . 0.114 . 0.271 0.514 0.615 . . rs71232007 rs71232007 rs71232007 1 1538 10 1/0 0,247,255 +. (chr1:148335587 C/G) 1 148335587 C G Transcript NM_001351365.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) NBPF19 +. 1 148335587 C G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148335587 148335587 Chr1(GRCh37):g.148335587C>G 1533 1533 ENST00000369202.1:c.1533G>C p.Leu511= p.Leu511Leu 11 614007 -53 5' 71.4448 7.13302 0.639474 2.38148 71.4448 7.13302 0.639474 2.56522 0 Neuroblastoma breakpoint family (NBPF) domain transversion G C G>C 0.000 -1.086 L Leu CTG 0.404 L Leu CTC 0.197 511 191 PASS . . . . . . . . . . . . . . . . 0.14 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 50.0 . . . . . . . . . . -0.4118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.51 0.37 182 ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs521219 rs521219 rs521219 rs521219 1 1538 10 1/0 0,255,255 +. 1 148335592 T C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution missense exon GRCh37 148335592 148335592 Chr1(GRCh37):g.148335592T>C 715 715 NM_001351365.1:c.715A>G p.Thr239Ala p.Thr239Ala 5 614006 -58 5' 71.4448 7.13302 0.639474 2.56522 71.4448 7.13302 0.639474 2.86017 0 transition A G A>G 0.000 0.125 T Thr ACT 0.243 A Ala GCT 0.263 239 11 3 Olive baboon 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.16 IV.32 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . . . . . . . 1 0.010 . . 49.0 . . . . . . . . . . -1.0989 -1.193 -1.099 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.138 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.006 . . 0.423 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.252 . . 0.317 . . . . . . 3 . . . . . . . . 0.329 . LowAF 0.5 . . . . . . . . . . . . . . . . 0.109 0.109 . 1.000000 . . . . . . 0.045 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.156 0.156000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.236 . 0.061 . 0.022 0.156 0.062 . . . . . 1 1538 10 1/0 0,255,255 +. 1 148335592 T C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148335592 148335592 Chr1(GRCh37):g.148335592T>C 1528 1528 ENST00000369202.1:c.1528A>G p.Thr510Ala p.Thr510Ala 11 614007 -58 5' 71.4448 7.13302 0.639474 2.38148 71.4448 7.13302 0.639474 2.67643 0 Neuroblastoma breakpoint family (NBPF) domain transition A G A>G 0.000 0.125 T Thr ACT 0.243 A Ala GCT 0.263 510 10 5 Macaque 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 251.13 0.00 Tolerated 0.07 IV.32 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . . . . . . . 1 0.010 . . 49.0 . . . . . . . . . . -1.0989 -1.193 -1.099 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.138 . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.006 . . 0.423 . . . . . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.252 . . 0.317 . . . . . . 3 . . . . . . . . 0.329 . LowAF 0.5 . . . . . . . . . . . . . . . . 0.109 0.109 . 1.000000 . . . . . . 0.045 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.156 0.156000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.236 . 0.061 . 0.022 0.156 0.062 . . . . . 1 1538 10 1/0 0,255,255 +. 1 148337418 A G - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148337418 148337418 Chr1(GRCh37):g.148337418A>G 494-1141 494-1141 NM_001351365.1:c.494-1141T>C p.? p.? 4 3 614006 -1141 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transition T C T>C 0.079 -1.812 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 36.0 . . . . . . . . . . -0.4387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.28 0.27 182 ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs61801875 rs61801875 rs9441240 rs61801875 1 1538 10 1/0 0,255,255 +. 1 148337418 A G - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148337418 148337418 Chr1(GRCh37):g.148337418A>G 1206 1206 ENST00000369202.1:c.1206T>C p.Leu402= p.Leu402Leu 9 614007 -101 5' 94.9812 11.083 0.995156 8.05831 94.9812 11.083 0.995156 8.05831 0 transition T C T>C 0.079 -1.812 L Leu CTT 0.129 L Leu CTC 0.197 402 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 36.0 . . . . . . . . . . -0.4387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.28 0.27 182 ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs61801875 rs61801875 rs9441240 rs61801875 1 1538 10 1/0 0,255,255 +. 1 148337449 C A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148337449 148337449 Chr1(GRCh37):g.148337449C>A 494-1172 494-1172 NM_001351365.1:c.494-1172G>T p.? p.? 4 3 614006 -1172 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 rs61801874 no no 0 0.000000 0 transversion G T G>T 0.000 -1.893 200 PASS . . . . . . . . . . . . . . . . 0.16129032 . . . 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.284 . . . . . . . 1 0.096 . . 62.0 . . . . . . . . . . -1.3866 -1.622 -1.387 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.102 . . . . 0.49 0.38 182 ENSG00000203832 . . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.058 0.003 . . 37 . 0.209 . . 0.126 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.559 . . 0.567 . . . . . . 3 . . . . . . 0.152 . 0.545 . HET 0 rs61801874 . . . . . . . . . . . . V.26 . . 0.416 -0.832 . 0.610000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.902 -1.902000 . . 0.610000 . . 1.0E-200 0.000 0.063 . 0.016 0.000 . 0.052 . 0.058 -1.902 -0.355 . rs61801874 rs61801874 rs61801874 rs61801874 1 1538 10 1/0 0,252,255 +. 1 148337449 C A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148337449 148337449 Chr1(GRCh37):g.148337449C>A 1175 1175 ENST00000369202.1:c.1175G>T p.Arg392Leu p.Arg392Leu 9 614007 84 3' 76.3466 9.44659 0.835517 6.97683 76.3466 9.44659 0.835517 6.97683 0 rs61801874 no no 0 0.000000 0 transversion G T G>T 0.000 -1.893 R Arg CGC 0.190 L Leu CTC 0.197 392 10 4 Sumatran orangutan -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 274.61 0.00 Deleterious 0.04 IV.32 200 PASS . . . . . . . . . . . . . . . . 0.16129032 . . . 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.284 . . . . . . . 1 0.096 . . 62.0 . . . . . . . . . . -1.3866 -1.622 -1.387 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.102 . . . . 0.49 0.38 182 ENSG00000203832 . . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.058 0.003 . . 37 . 0.209 . . 0.126 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.559 . . 0.567 . . . . . . 3 . . . . . . 0.152 . 0.545 . HET 0 rs61801874 . . . . . . . . . . . . V.26 . . 0.416 -0.832 . 0.610000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.902 -1.902000 . . 0.610000 . . 1.0E-200 0.000 0.063 . 0.016 0.000 . 0.052 . 0.058 -1.902 -0.355 . rs61801874 rs61801874 rs61801874 rs61801874 1 1538 10 1/0 0,252,255 +. 1 148337510 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148337510 148337510 Chr1(GRCh37):g.148337510C>T 494-1233 494-1233 NM_001351365.1:c.494-1233G>A p.? p.? 4 3 614006 -1233 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transition G A G>A 0.291 -1.893 192 PASS . . . . . . . . . . . . . . . . 0.14035088 . . . 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.280 . . . . . . . 1 0.187 . . 57.0 . . . . . . . . . . -1.6162 -1.737 -1.616 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.156 . . . . . . . ENSG00000203832 . . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.172 0.006 . . 37 . 0.013 . . 0.487 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.298 . . 0.198 . . . . . . 3 . . . . . . 0.148 . 0.401 . LowAF 0.04 . . . . . . . . . . . . . V.95 . . 0.416 0.416 . 0.170000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.728 -1.728000 . . 0.170000 . . 9.999999999999999E-193 0.001 0.137 . 0.016 0.002 . 0.023 . 0.001 -1.728 -1.744 . . . rs71241064 rs71241064 1 1538 10 1/0 0,254,255 +. 1 148337510 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148337510 148337510 Chr1(GRCh37):g.148337510C>T 1114 1114 ENST00000369202.1:c.1114G>A p.Ala372Thr p.Ala372Thr 9 614007 23 3' 76.3466 9.44659 0.835517 6.97683 76.3466 9.44659 0.835517 6.29368 0 transition G A G>A 0.291 -1.893 A Ala GCT 0.263 T Thr ACT 0.243 372 10 2 Sumatran orangutan 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 236.23 0.00 Deleterious 0.04 IV.32 192 PASS . . . . . . . . . . . . . . . . 0.14035088 . . . 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.280 . . . . . . . 1 0.187 . . 57.0 . . . . . . . . . . -1.6162 -1.737 -1.616 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.156 . . . . . . . ENSG00000203832 . . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.172 0.006 . . 37 . 0.013 . . 0.487 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.298 . . 0.198 . . . . . . 3 . . . . . . 0.148 . 0.401 . LowAF 0.04 . . . . . . . . . . . . . V.95 . . 0.416 0.416 . 0.170000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.728 -1.728000 . . 0.170000 . . 9.999999999999999E-193 0.001 0.137 . 0.016 0.002 . 0.023 . 0.001 -1.728 -1.744 . . . rs71241064 rs71241064 1 1538 10 1/0 0,254,255 +. 1 148337582 C T - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148337582 148337582 Chr1(GRCh37):g.148337582C>T 494-1305 494-1305 NM_001351365.1:c.494-1305G>A p.? p.? 4 3 614006 -1305 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 rs111393524 no no 0 0.000000 0 transition G A G>A 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.48387095 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 31.0 . . . . . . . . . . -0.6001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.59 0.35 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111393524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111393524 rs111393524 1 1538 10 1/0 0,255,255 +. 1 148337582 C T - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148337582 148337582 Chr1(GRCh37):g.148337582C>T 1092-50 1092-50 ENST00000369202.1:c.1092-50G>A p.? p.? 9 8 614007 -50 3' 76.3466 9.44659 0.835517 6.97683 76.3466 9.44659 0.835517 7.01426 0 rs111393524 no no 0 0.000000 0 transition G A G>A 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.48387095 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 31.0 . . . . . . . . . . -0.6001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.59 0.35 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111393524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111393524 rs111393524 1 1538 10 1/0 0,255,255 +. 1 148338349 A C - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148338349 148338349 Chr1(GRCh37):g.148338349A>C 494-2072 494-2072 NM_001351365.1:c.494-2072T>G p.? p.? 4 3 614006 -2072 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transversion T G T>G 0.071 -2.297 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33.0 . . . . . . . . . . -0.8892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.46 0.32 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61801873 rs61801873 rs61801873 rs61801873 1 1538 10 1/0 0,255,255 +. 1 148338349 A C - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution intron GRCh37 148338349 148338349 Chr1(GRCh37):g.148338349A>C 1091+18 1091+18 ENST00000369202.1:c.1091+18T>G p.? p.? 8 8 614007 18 5' 90.6189 10.0684 0.964038 V.23 90.6189 10.0684 0.964038 6.60342 0 transversion T G T>G 0.071 -2.297 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33.0 . . . . . . . . . . -0.8892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.46 0.32 182 ENSG00000203832 . NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61801873 rs61801873 rs61801873 rs61801873 1 1538 10 1/0 0,255,255 +. 1 148338369 G A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148338369 148338369 Chr1(GRCh37):g.148338369G>A 494-2092 494-2092 NM_001351365.1:c.494-2092C>T p.? p.? 4 3 614006 -2092 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transition C T C>T 0.165 0.044 180 PASS . . . . . . . . . . . . . . . . 0.114754096 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 1 148338369 G A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution synonymous exon GRCh37 148338369 148338369 Chr1(GRCh37):g.148338369G>A 1089 1089 ENST00000369202.1:c.1089C>T p.Leu363= p.Leu363Leu 8 614007 -3 5' 90.6189 10.0684 0.964038 V.23 86.4908 7.64824 0.94689 2.54912 -0.101237 transition C T C>T 0.165 0.044 L Leu CTC 0.197 L Leu CTT 0.129 363 180 PASS . . . . . . . . . . . . . . . . 0.114754096 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 61.0 . . . . . . . . . . -0.3226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 4 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 1 148338403 T A - NBPF19 31999 NBPF member 19 NM_001351365.1 -1 13193 11532 NP_001338294.1 A0A087WUL8 substitution intron GRCh37 148338403 148338403 Chr1(GRCh37):g.148338403T>A 494-2126 494-2126 NM_001351365.1:c.494-2126A>T p.? p.? 4 3 614006 -2126 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 8.07767 0 transversion A T A>T 0.165 0.044 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . . 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.377 . . . . . . . 1 0.294 . . 96.0 . . . . . . . . . . -0.5609 -0.846 -0.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.087 . . 0.076 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.715 . . 0.774 . . . . . . 3 . . . . . . . . 0.459 . LowAF 0.01 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.056 0.056000 . . 0.000000 . . 1.0E-175 0.000 0.063 . 0.114 0.017 . 0.107 . 0.277 0.056 0.368 . . . . . 1 1538 10 1/0 0,228,255 +. 1 148338403 T A - NBPF20 32000 Neuroblastoma breakpoint family, member 20 ENST00000369202.1 -1 15690 13866 NP_001265196.1 substitution missense exon GRCh37 148338403 148338403 Chr1(GRCh37):g.148338403T>A 1055 1055 ENST00000369202.1:c.1055A>T p.Lys352Met p.Lys352Met 8 614007 -37 5' 90.6189 10.0684 0.964038 V.23 90.6189 10.0684 0.964038 6.02622 0 transversion A T A>T 0.165 0.044 K Lys AAG 0.575 M Met ATG 1.000 352 10 2 Western lowland gorilla -1 -1 -3 0.33 0 11.III 5.VII 119 105 95 C0 353.86 0.00 Deleterious 0.01 IV.32 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . . 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.377 . . . . . . . 1 0.294 . . 96.0 . . . . . . . . . . -0.5609 -0.846 -0.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000203832 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.087 . . 0.076 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.715 . . 0.774 . . . . . . 3 . . . . . . . . 0.459 . LowAF 0.01 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.056 0.056000 . . 0.000000 . . 1.0E-175 0.000 0.063 . 0.114 0.017 . 0.107 . 0.277 0.056 0.368 . . . . . 1 1538 10 1/0 0,228,255 +. 1 148579546 C G - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148579546 148579546 Chr1(GRCh37):g.148579546C>G 176-60 176-60 NM_001170755.2:c.176-60C>G p.? p.? 9 8 610414 -60 3' 88.016 9.98334 0.865815 2.44632 88.016 9.98334 0.865815 2.57636 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000074 0.000000 0.000000 0.000074 1 0 0 0 0 0 1 0 0 28084 7638 794 228 1556 0 13526 3450 892 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion C G C>G 0.335 0.528 187 PASS . . . . . . . . . . . . . . . . 0.12962963 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54.0 . . . . . . . . . . -0.1926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.43 0.35 182 ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.561e-05 0 0 0 0 7.393e-05 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs75211658 rs75211658 1 1538 10 1/0 0,255,255 +. 1 148579574 C G - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148579574 148579574 Chr1(GRCh37):g.148579574C>G 176-32 176-32 NM_001170755.2:c.176-32C>G p.? p.? 9 8 610414 -32 3' 88.016 9.98334 0.865815 2.44632 88.016 9.98334 0.865815 2.21391 0 transversion C G C>G 0.327 0.528 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 64.0 . . . . . . . . . . -0.1196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +. 1 148581763 G T - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148581763 148581763 Chr1(GRCh37):g.148581763G>T 494-33 494-33 NM_001170755.2:c.494-33G>T p.? p.? 11 10 610414 -33 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.930093 VIII.16 0 New Donor Site 148581761 5.1791 0.969811 76.2827 transversion G T G>T 0.020 -0.360 207 PASS . . . . . . . . . . . . . . . . 0.17582418 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 182.0 . . . . . . . . . . -0.3414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.42 0.33 182 ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs3881754 rs3881754 rs3881754 rs3881754 1 1538 10 1/0 0,207,255 +. 1 148581806 C T - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution synonymous exon GRCh37 148581806 148581806 Chr1(GRCh37):g.148581806C>T 504 504 NM_001170755.2:c.504C>T p.Asn168= p.Asn168Asn 11 610414 11 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.860398 7.98437 -0.0249778 0.000535 0.001592 0.001403 0.016129 0.000000 0.000000 0.000000 0.000000 0.000000 0.016129 4 1 2 1 0 0 0 0 0 7472 628 1426 62 438 1028 1762 1824 304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.732 N Asn AAC 0.536 N Asn AAT 0.464 168 232 PASS . . . . . . . . . . . . . . . . 0.24864864 . . . 46 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 185.0 . . . . . . . . . . -0.7929 -0.277 -0.793 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.44 0.3 182 ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0.025 0 0 0 0 0 0.0019 0.0007 0.0101 0 0 0 0 0 . . 0.428 . . . . . . . . 1.0E-232 0.061 0.216 . 0.043 . . 0.142 . 0.035 . . . rs4661824 rs4661824 rs4661824 rs4661824 1 1538 10 1/0 0,214,255 +. 1 148581810 G C - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution missense exon GRCh37 148581810 148581810 Chr1(GRCh37):g.148581810G>C 508 508 NM_001170755.2:c.508G>C p.Asp170His p.Asp170His 11 610414 15 3' 91.8347 5.70008 0.930093 8.07767 91.8347 5.70008 0.941329 7.76896 0.00402684 0.000265 0.002146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002146 1 1 0 0 0 0 0 0 0 3768 466 184 24 56 0 1122 1746 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 69 Genomes transversion G C G>C 0.000 0.125 D Asp GAC 0.539 H His CAC 0.587 170 12 3 Cow 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 353.86 0.00 Tolerated 0.05 II.78 200 PASS . . . . . . . . . . . . . . . . 0.15873016 . . . 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.183 . . . . . . . 1 0.080 . . 189.0 . . . . . . . . . . -0.8996 -1.075 -0.900 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . . . . . 0.29 0.24 182 ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.006 . . 0.477 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.782 . . 0 0 0 0 . 0 . 0.439 . . 0.368 . . . . . . 1 0.654 . . . . . . . 0.238 . HET 0.03 . . . . . . . . . . . . . . . . . . . 0.170000 Q8N660 . . . . . 0.036 . . . . . . . . . . . . 0.0021 0.0003 0 0 0 0 0 0 . . 0.428 . 0.172 0.172000 . . 0.170000 . . 1.0E-200 0.180 0.238 . 0.100 0.006 . 0.286 . 0.259 0.172 0.142 . rs4950572 rs4950572 rs4950572 rs4950572 1 1538 10 1/0 0,204,255 +. 1 148581914 G A - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148581914 148581914 Chr1(GRCh37):g.148581914G>A 566+46 566+46 NM_001170755.2:c.566+46G>A p.? p.? 11 11 610414 46 5' 81.9751 8.87834 0.96301 1.09442 81.9751 8.87834 0.96301 0.68778 0 rs4950571 yes no Frequency 1 0.000000 0 0.000155 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003731 0.000000 1 0 0 0 0 0 0 0 1 6454 188 2190 42 770 1708 1228 60 268 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 106 Exomes transition G A G>A 0.000 -1.732 209 PASS . . . . . . . . . . . . . . . . 0.18333334 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 120.0 . . . . . . . . . . -0.7165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.35 0.23 182 ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4950571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0 0.0037 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs4950571 rs4950571 rs4950571 rs4950571 1 1538 10 1/0 0,226,255 +. 1 148581956 C T - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution intron GRCh37 148581956 148581956 Chr1(GRCh37):g.148581956C>T 566+88 566+88 NM_001170755.2:c.566+88C>T p.? p.? 11 11 610414 88 5' 81.9751 8.87834 0.96301 1.09442 81.9751 8.87834 0.96301 1.09442 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6180 Genomes transition C T C>T 0.000 -1.247 188 PASS . . . . . . . . . . . . . . . . 0.13095239 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 84.0 . . . . . . . . . . -0.6581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . 0.49 0.41 182 ENSG00000243452 NBPF15 NBPF25P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs11485976 rs11485976 rs11485976 rs11485976 1 1538 10 1/0 0,237,255 +. 1 148583845 G A - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution synonymous exon GRCh37 148583845 148583845 Chr1(GRCh37):g.148583845G>A 792 792 NM_001170755.2:c.792G>A p.Glu264= p.Glu264Glu 13 610414 20 3' 84.1916 7.72112 0.69454 VI.59 84.1916 7.72112 0.614336 6.73918 -0.0384926 COSM3677255 Haematopoietic and lymphoid tissue 0.000278 3598 transition G A G>A 0.016 0.609 E Glu GAG 0.583 E Glu GAA 0.417 264 195 PASS . . . . . . . . . . . . . . . . 0.15 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 40.0 . . . . . . . . . . -0.1186 -0.190 -0.119 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.168 . . . . 0.29 0.28 182 ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 9.999999999999999E-196 0.124 0.230 . 0.083 . . 0.298 . 0.034 . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 148589730 A G - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution synonymous exon GRCh37 148589730 148589730 Chr1(GRCh37):g.148589730A>G 1110 1110 NM_001170755.2:c.1110A>G p.Ser370= p.Ser370Ser 16 610414 70 3' 88.6311 10.0629 0.93601 11.1499 88.6311 10.0629 0.93601 XI.71 0 DUF1220 0.000018 0.000000 0.000000 0.000000 0.000000 0.000177 0.000000 0.000000 0.000000 0.000177 1 0 0 0 0 1 0 0 0 56000 5416 10486 1278 7538 5638 20472 3402 1770 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.005 S Ser TCA 0.148 S Ser TCG 0.056 370 214 PASS . . . . . . . . . . . . . . . . 0.1978022 . . . 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 91.0 . . . . . . . . . . -0.5949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . . . . ENSG00000243452 NBPF15 NBPF15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.141e-05 0 0 0 0 0 0 0.0002 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs11488477 rs11488477 . . 1 1538 10 1/0 0,239,255 +. 1 148592099 A G - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution synonymous exon GRCh37 148592099 148592099 Chr1(GRCh37):g.148592099A>G 1455 1455 NM_001170755.2:c.1455A>G p.Gln485= p.Gln485Gln 19 610414 17 3' 81.7186 9.92179 0.325714 7.63734 81.7186 9.92179 0.293863 7.46518 -0.0325961 0.001277 0.005920 0.000960 0.001538 0.000000 0.001016 0.001166 0.000000 0.002336 0.005920 35 11 5 1 0 4 12 0 2 27404 1858 5210 650 4252 3938 10296 344 856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 11 5 1 0 4 12 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.682 Q Gln CAA 0.256 Q Gln CAG 0.744 485 189 PASS . . . . . . . . . . . . . . . . 0.13432837 . . . 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 67.0 . . . . . . . . . . -0.4607 -0.237 -0.461 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.101 . . . . . . . ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0013 0.0010 0.0015 0 0 0.0012 0.0024 0.0010 0 0 0 . 0 0 0 0 . . 0.246 . . . . . . . . 1.0E-189 0.002 0.151 . 0.090 . . 0.102 . 0.271 . . . . . . . 1 1538 10 1/0 0,246,255 +. 1 148592130 C T - NBPF15 28791 Neuroblastoma breakpoint family, member 15 NM_001170755.2 1 4802 2013 NP_001164226.1 Q8N660 substitution missense exon GRCh37 148592130 148592130 Chr1(GRCh37):g.148592130C>T 1486 1486 NM_001170755.2:c.1486C>T p.Pro496Ser p.Pro496Ser 19 610414 -5 5' 87.304 VIII.64 0.967377 3.1319 87.304 VIII.64 0.979797 3.46935 0.00427961 Cryptic Acceptor Strongly Activated 148592135 3.78207 0.145561 74.5228 4.17204 0.273776 78.0684 DUF1220 transition C T C>T 0.000 -0.440 P Pro CCC 0.328 S Ser TCC 0.220 496 12 5 Dolphin -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.94 II.81 175 PASS . . . . . . . . . . . . . . . . 0.104477614 . . . 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.411 . . . . . . . 1 0.383 . . 67.0 . . . . . . . . . . -0.4155 -0.804 -0.415 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.103 . . . . 0.41 0.29 182 ENSG00000243452 NBPF15 NBPF15 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.344 . . 0.088 . . . 0.570 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . 0.764 . . 0.916 . . . . . . 1 . . . . . . . . 0.403 . LowAF 0.01 . . . . . . . . . . . . . . . . 0.429 -0.805 . 0.100000 Q8N660 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.418 -0.418000 . . 0.100000 . . 1.0E-175 0.836 0.300 . 0.111 . . 0.255 . 0.036 -0.418 . . rs3927032 rs3927032 . . 1 1538 10 1/0 0,244,255 +. (chr1:148742748 G/T) 1 148742748 G T Not on a known gene +. (chr1:148743850 G/T) 1 148743850 G T Not on a known gene +. (chr1:148743893 C/T) 1 148743893 C T Not on a known gene +. (chr1:148743897 G/C) 1 148743897 G C Not on a known gene +. (chr1:148744001 G/A) 1 148744001 G A Not on a known gene +. (chr1:148744043 C/T) 1 148744043 C T Not on a known gene +. (chr1:148749941 A/G) 1 148749941 A G Not on a known gene +. (chr1:148750205 G/C) 1 148750205 G C Not on a known gene +. (chr1:148750940 A/C) 1 148750940 A C Not on a known gene +. (chr1:148750983 T/C) 1 148750983 T C Not on a known gene +. (chr1:148751778 A/G) 1 148751778 A G Not on a known gene +. (chr1:148806514 C/T) 1 148806514 C T Not on a known gene +. 1 148903184 G A - DRD5P2 3028 Dopamine receptor D5 pseudogene 2 NR_111001.1 1 2228 0 substitution exon GRCh37 148903184 148903184 Chr1(GRCh37):g.148903184G>A 1340 1340 NR_111001.1:n.1340G>A 1 rs2840891 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30202 8536 794 300 1600 0 14688 3340 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 114 Genomes transition G A G>A 0.992 0.367 204 PASS . . . . . . . . . . . . . . . . 0.16901408 . . . 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 284.0 . . . . . . . . . . 0.1702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . . . . . 0.47 0.41 182 ENSG00000175658 . . . dist\x3d1061\x3bdist\x3d25102 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs2840891 rs2840891 rs2840891 rs2840891 1 1538 10 1/0 0,187,255 +. 1 149290723 C T - FAM231D 49509 Family with sequence similarity 231 member D NM_001348147.1 1 3467 510 NP_001335076.1 Q6ZW35 substitution synonymous exon GRCh37 149290723 149290723 Chr1(GRCh37):g.149290723C>T 195 195 NM_001348147.1:c.195C>T p.Ser65= p.Ser65Ser 1 rs522146 yes no Frequency 1 T 0.000000 0 0.008489 0.012913 0.000000 0.003968 0.012232 0.000000 0.007984 0.002368 0.006494 0.012913 204 82 0 1 16 0 93 7 5 24032 6350 748 252 1308 0 11648 2956 770 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 204 82 0 1 16 0 93 7 5 0 0 0 0 0 0 0 0 0 RF 67 Genomes transition C T C>T 0.000 -0.924 S Ser AGC 0.243 S Ser AGT 0.149 65 220 PASS . . . . . . . . . . . . . . . . 0.21568628 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . 0.43 0.33 182 ENSG00000235999 BC023516 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140656994 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0129 0.0085 0 0.0040 0.0122 0.0024 0.0080 0.0065 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.011 rs522146 rs522146 rs522146 rs140656994 1 1538 10 1/0 0,255,255 +. 1 149290991 A G - FAM231D 49509 Family with sequence similarity 231 member D NM_001348147.1 1 3467 510 NP_001335076.1 Q6ZW35 substitution missense exon GRCh37 149290991 149290991 Chr1(GRCh37):g.149290991A>G 463 463 NM_001348147.1:c.463A>G p.Ile155Val p.Ile155Val 1 rs200773965 yes no Frequency 1 A 0.000000 0 0.001993 0.001103 0.000000 0.007576 0.000000 0.000000 0.003145 0.000614 0.002257 0.007576 55 9 0 2 0 0 40 2 2 27600 8156 754 264 1564 0 12720 3256 886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 9 0 2 0 0 40 2 2 0 0 0 0 0 0 0 0 0 RF 83 Genomes transition A G A>G 0.000 0.367 I Ile ATC 0.481 V Val GTC 0.240 155 8 8 Olive baboon 3 3 4 0 0 5.II 5.IX 111 84 29 C25 0.00 28.68 Deleterious 0 IV.32 196 PASS . . . . . . . . . . . . . . . . 0.15 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 80.0 . . . . . . . . . . -0.2605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . 0.48 0.31 182 ENSG00000235999 BC023516 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200773965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0020 0 0.0076 0 0.0006 0.0031 0.0023 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . rs71269347 rs71269347 rs200773965 1 1538 10 1/0 0,240,255 +. 1 149379664 C T - FCGR1CP 3615 Fc fragment of IgG receptor Ic, pseudogene NR_027484.2 1 1344 0 substitution downstream GRCh37 149379664 149379664 Chr1(GRCh37):g.149379664C>T *1361 *1361 NR_027484.2:n.*1361C>T p.? p.? 6 601503 1809 3' 99.5701 13.3653 0.996552 10.1887 99.5701 13.3653 0.996552 10.1887 0 rs17838254 no no 0 T 0.000000 0 0.000071 0.000000 0.000000 0.000000 0.000000 0.000000 0.000075 0.000321 0.000000 0.000321 2 0 0 0 0 0 1 1 0 28264 8398 760 284 1536 0 13280 3112 894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition C T C>T 0.000 -2.054 111 PASS . . . . . . . . . . . . . . . . 1.0 . . . 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 7.0 . . DOWNSTREAM(MODIFIER||||FCGR1C|Non-coding_transcript|NON_CODING|NR_027484|) . . . . . . . -0.1578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . . . . . 0.47 0.47 182 ENSG00000240929 . . . dist\x3d1367\x3bdist\x3d19051 dist\x3d1361\x3bdist\x3d134426 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs17838254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.076e-05 0 0 0 0.0003 7.53e-05 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs17838254 rs17838254 rs17838254 rs17838254 1 1538 255 1.I 0,0,255 +. 1 149552999 A C - PPIAL4C 33995 Peptidylprolyl isomerase A (cyclophilin A)-like 4C NM_001135789.2 1 785 495 NP_001129261.1 Q9Y536 substitution upstream GRCh37 149552999 149552999 Chr1(GRCh37):g.149552999A>C -79 -79 NM_001135789.2:c.-79A>C p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A C A>C 0.008 -1.167 111 PASS 0.93 0.88 0.85 0.75 0.94 . . . . . . . . . . . 1.0 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 19.0 . . . . . . . . . . -0.6491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . . . . . 0.46 0.05 182 ENSG00000198161 PPIAL4B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs138613319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.94 rs2814238 rs2814238 rs2814238 rs138613319 1 1538 255 1.I 0,0,255 +. 1 149665271 A T - LINC00869 29050 Long intergenic non-protein coding RNA 869 NR_046135.1 1 1205 0 substitution intron GRCh37 149665271 149665271 Chr1(GRCh37):g.149665271A>T 440-4938 440-4938 NR_046135.1:n.440-4938A>T p.? p.? 2 1 -4938 3' 92.383 10.0217 0.967506 4.185 92.383 10.0217 0.967506 4.185 0 transversion A T A>T 0.016 0.609 222 PASS . . . . . . . . . . . . . . . . 0.2189781 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 137.0 . . . . . . . . . . -0.1666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000234232 LINC00869 LOC103091866 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 1 149813866 G A - HIST2H2AA3 4736 Histone cluster 2, H2aa3 NM_003516.2 -1 534 393 NP_003507.1 Q6FI13 substitution 3'UTR GRCh37 149813866 149813866 Chr1(GRCh37):g.149813866G>A *7 *7 NM_003516.2:c.*7C>T p.? p.? 1 142720 rs200138530 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS 0.4 0.12 0.06 0.01 0.04 . . . . . . . . . . . 0.5625 . . . 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.67 0.57 182 ENSG00000183558 HIST2H2AA4 . ENST00000369161:c.*7C>T uc001esw.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 rs2873870 rs2873870 rs2873870 rs200138530 1 1538 10 1/0 0,242,246 +. 1 149813866 G A - HIST2H2AA4 29668 Histone cluster 2, H2aa4 NM_001040874.1 -1 534 393 NP_001035807.1 Q6FI13 substitution 3'UTR GRCh37 149813866 149813866 Chr1(GRCh37):g.149813866G>A *7 *7 NM_001040874.1:c.*7C>T p.? p.? 1 rs200138530 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS 0.4 0.12 0.06 0.01 0.04 . . . . . . . . . . . 0.5625 . . . 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.67 0.57 182 ENSG00000183558 HIST2H2AA4 . ENST00000369161:c.*7C>T uc001esw.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 rs2873870 rs2873870 rs2873870 rs200138530 1 1538 10 1/0 0,242,246 +. 1 149813866 G A - HIST2H3A 20505 Histone cluster 2, H3a NM_001005464.2 -1 507 411 NP_001005464.1 Q71DI3 substitution upstream GRCh37 149813866 149813866 Chr1(GRCh37):g.149813866G>A -1137 -1137 NM_001005464.2:c.-1137C>T p.? p.? 1 rs200138530 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS 0.4 0.12 0.06 0.01 0.04 . . . . . . . . . . . 0.5625 . . . 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.67 0.57 182 ENSG00000183558 HIST2H2AA4 . ENST00000369161:c.*7C>T uc001esw.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 rs2873870 rs2873870 rs2873870 rs200138530 1 1538 10 1/0 0,242,246 +. 1 149813866 G A - HIST2H3C 20503 Histone cluster 2, H3c NM_021059.2 -1 507 411 NP_066403.2 Q71DI3 substitution upstream GRCh37 149813866 149813866 Chr1(GRCh37):g.149813866G>A -1137 -1137 NM_021059.2:c.-1137C>T p.? p.? 1 142780 rs200138530 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS 0.4 0.12 0.06 0.01 0.04 . . . . . . . . . . . 0.5625 . . . 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.67 0.57 182 ENSG00000183558 HIST2H2AA4 . ENST00000369161:c.*7C>T uc001esw.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 rs2873870 rs2873870 rs2873870 rs200138530 1 1538 10 1/0 0,242,246 +. 1 149823080 C T - HIST2H2BC 20516 Histone cluster 2, H2bc (pseudogene) NR_036461.1 -1 582 0 substitution upstream GRCh37 149823080 149823080 Chr1(GRCh37):g.149823080C>T -740 -740 NR_036461.1:n.-740G>A p.? p.? 1 transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.45714286 . . . 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 140.0 . . . . . . . . . . 0.0745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.64 0.67 182 ENSG00000203812 HIST2H2AA4 . ENST00000369159:c.*7C>T uc001esx.3:c.*7C>T NM_003516:c.*7C>T\x3bNM_001040874:c.*7C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2873870 rs2873870 rs2873870 rs2873870 1 1538 10 1/0 0,245,255 +. 1 150256879 G A - CIART 25200 Circadian associated repressor of transcription NM_001300838.1 1 1443 1158 NP_001287767.1 Q8N365 substitution synonymous exon GRCh37 150256879 150256879 Chr1(GRCh37):g.150256879G>A 486 486 NM_001300838.1:c.486G>A p.Gln162= p.Gln162Gln 4 615782 -36 5' 87.9846 9.65245 0.997356 0.636011 87.9846 9.65245 0.997356 0.500105 0 Cryptic Acceptor Strongly Activated 150256890 0.61319 0.108426 5.02185 0.104329 71.9673 rs137955605 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.001000 0.007200 0.003629 0.000957 0.001627 0.000099 0.000000 0.000162 0.006787 0.001590 0.003093 0.006787 1006 23 56 1 0 5 860 41 20 277234 24032 34420 10152 18870 30782 126718 25794 6466 0.000094 0.000000 0.000058 0.000000 0.000000 0.000000 0.000158 0.000078 0.000309 13 0 1 0 0 0 10 1 1 980 23 54 1 0 5 840 39 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4399 12949 50 7 57 0.00581395 0.00158874 0.00438259 0.00581395 0.00158874 0.00438259 197 transition G A G>A 1.000 0.932 Q Gln CAG 0.744 Q Gln CAA 0.256 162 255 PASS . 0.0018 0.01 . 0.0026 . 0.0012 0.0072 . 0.001 . . . . . . 0.46938777 . . . 23 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . . . . . . . 2 . . . 49.0 . . . 0.0016 0.0044 0.0058 0.0016 0.0044 0.0058 . I.45 . . . . . . . . 3.275e-03 . . . 0.0010 0.0027 0.0017 0 0.0011 0.0050 0.0028 0.0002 0.0009 0.0029 0.0017 0 0.0009 0.0051 0.0014 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.32 0.25 182 ENSG00000159208 C1orf51 CIART . . . . . . 304 0.00467865 64976 298 0.00496783 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . rs137955605 . . . . . . . . . . . . . . . . . . . . . . . 0.004383 . . . . 2.XII 0.0007 0.0035 0.0017 0.0001 0 0.0017 0.0066 0.0031 0.0002 0.0014 0.0047 0 0 0 0.0009 0.0085 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs137955605 rs137955605 1 1538 10 1/0 0,255,255 +. 1 150300948 C G - PRPF3 17348 Pre-mRNA processing factor 3 NM_004698.3 1 2474 2052 NP_004689.1 O43395 substitution intron GRCh37 150300948 150300948 Chr1(GRCh37):g.150300948C>G 423+23 423+23 NM_004698.3:c.423+23C>G p.? p.? 4 4 607301 23 5' 90.1244 8.02288 0.990309 5.00043 90.1244 8.02288 0.990309 5.48905 0 rs200909078 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000102 0.000000 0.000060 0.000000 0.000000 0.000000 0.000206 0.000000 0.000000 0.000206 25 0 2 0 0 0 23 0 0 245880 15278 33570 9848 17236 30776 111630 22060 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 2 0 0 0 23 0 0 0 0 0 0 0 0 0 0 0 PASS 85 Exomes transversion C G C>G 0.425 0.851 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.42105263 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||PRPF3|mRNA|CODING|NM_004698|) . . . . . . . 1.0915 . . . . . . . . 1.184e-04 . . . 0 6.652e-05 0 0 0 0.0001 0 0 0 0.0001 0 0 0 0.0003 0 0 . . . . . . intronic UTR3 intronic . . . . . . . 0.47 0.21 182 ENSG00000117360 PRPF3 PRPF3 . uc009wlo.3:c.*11C>G . . . . 5 7.69515e-05 64976 4 6.66822e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831548 . . . . . III.44 0 0.0001 5.958e-05 0 0 0 0.0002 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200909078 rs200909078 1 1538 10 1/0 0,255,255 +. 1 150531581 C T - ADAMTSL4 19706 ADAMTS-like 4 NM_001288608.1 1 4324 3294 NP_001275537.1 substitution synonymous exon GRCh37 150531581 150531581 Chr1(GRCh37):g.150531581C>T 2772 2772 NM_001288608.1:c.2772C>T p.Arg924= p.Arg924Arg 17 610113 -61 5' 91.1667 9.84565 0.992084 9.08818 91.1667 9.84565 0.992084 8.35671 0 Cryptic Acceptor Strongly Activated 150531590 5.35923 0.042232 71.5358 6.49037 0.104357 74.2476 rs139006349 yes no Frequency 1 C uncertain_significance 0.000000 0 0.000021 0.000000 0.000030 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 0.000037 5 0 1 0 0 0 4 0 0 241902 14698 33496 9748 17186 30732 109100 21542 5400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 105 Exomes 8585 4394 12979 1 0 1 0.000116469 0 7.70416e-05 0.000116469 0 7.70416e-05 17 RCV000389068.1 germline clinical testing VUS 1 Ectopia lentis transition C T C>T 0.189 -1.570 R Arg CGC 0.190 R Arg CGT 0.082 924 255 PASS . . . . . . . . . . . . . . . . 0.47126436 . . . 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . Uncertain_significance RCV000389068.1 Ectopia_lentis MedGen:Orphanet:SNOMED_CT C0013581:ORPHA1885:74969002 2 . . . 87.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.6051 . . . . . . . . 1.582e-05 . . . 0 2.424e-05 0 0 0 5.359e-05 0 0 0 2.039e-05 0 0 0 3.942e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.42 0.39 182 ENSG00000143382 ADAMTSL4 ADAMTSL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs139006349 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527379 0.000077 . . . . . 0 2.067e-05 2.985e-05 0 0 0 3.666e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs139006349 rs139006349 1 1538 10 1/0 0,255,255 +. 1 150531581 C T - ADAMTSL4-AS1 32041 ADAMTSL4 antisense RNA 1 NR_104133.1 -1 1036 0 substitution downstream GRCh37 150531581 150531581 Chr1(GRCh37):g.150531581C>T *1790 *1790 NR_104133.1:n.*1790G>A p.? p.? 4 2118 3' 82.9474 4.73652 0.851556 3.16752 82.9474 4.73652 0.851556 3.16752 0 rs139006349 yes no Frequency 1 C uncertain_significance 0.000000 0 0.000021 0.000000 0.000030 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 0.000037 5 0 1 0 0 0 4 0 0 241902 14698 33496 9748 17186 30732 109100 21542 5400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 105 Exomes 8585 4394 12979 1 0 1 0.000116469 0 7.70416e-05 0.000116469 0 7.70416e-05 17 RCV000389068.1 germline clinical testing VUS 1 Ectopia lentis transition G A G>A 0.189 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.47126436 . . . 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . Uncertain_significance RCV000389068.1 Ectopia_lentis MedGen:Orphanet:SNOMED_CT C0013581:ORPHA1885:74969002 2 . . . 87.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.6051 . . . . . . . . 1.582e-05 . . . 0 2.424e-05 0 0 0 5.359e-05 0 0 0 2.039e-05 0 0 0 3.942e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.42 0.39 182 ENSG00000143382 ADAMTSL4 ADAMTSL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs139006349 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527379 0.000077 . . . . . 0 2.067e-05 2.985e-05 0 0 0 3.666e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs139006349 rs139006349 1 1538 10 1/0 0,255,255 +. 1 150971949 G A - MINDY1 25648 MINDY lysine 48 deubiquitinase 1 NM_001163258.1 -1 2239 1554 NP_001156730.1 substitution stop gain exon GRCh37 150971949 150971949 Chr1(GRCh37):g.150971949G>A 1021 1021 NM_001163258.1:c.1021C>T p.Gln341* p.Gln341* 8 39 3' 89.3632 8.35895 0.881369 XI.84 89.3632 8.35895 0.881369 11.1428 0 rs138246511 yes no Frequency 1 G 0.000000 0 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 149 transition C T C>T 1.000 5.371 Q Gln CAG 0.744 * * TAG 0.234 341 255 PASS . . . . . . . . . . . . . . . . 0.44927537 . . . 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.985 . . . . . . . 0 0.839 . . 69.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . I.21 1.068 1.222 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.699 . . . . 0.6 0.6 182 ENSG00000143409 FAM63A FAM63A . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 1 . . . . . . 0.814 . . . HET 0.01 rs138246511 . . . . . . . . . . . . 16.156 0.0 . V.14 V.14 . 0.020000 . . . . 0.000077 . 0.726 . . V.14 . . . . . . . . . . . . . . . . . . . 0.730 . 2.687 2.687000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.345 0.715 . 0.997 . 0.713 2.687 0.917 0.0001 . . rs138246511 rs138246511 1 1538 10 1/0 0,255,255 +. 1 151016150 C G - BNIPL 16976 BCL2/adenovirus E1B 19kD interacting protein like NM_138278.3 1 2160 1074 NP_612122.2 Q7Z465 substitution synonymous exon GRCh37 151016150 151016150 Chr1(GRCh37):g.151016150C>G 798 798 NM_138278.3:c.798C>G p.Ala266= p.Ala266Ala 7 611275 -54 5' 78.3398 7.39555 0.904033 5.21313 78.3398 7.39555 0.904033 5.79263 0 CRAL-TRIO domain rs144766190 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.002193 0.000583 0.000465 0.000296 0.000000 0.000260 0.004159 0.001008 0.002165 0.004159 608 14 16 3 0 8 527 26 14 277216 24034 34416 10150 18866 30780 126714 25790 6466 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 600 14 16 3 0 8 519 26 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8568 4402 12970 32 4 36 0.00372093 0.000907853 0.00276795 0.00372093 0.000907853 0.00276795 108 transversion C G C>G 1.000 1.981 A Ala GCC 0.403 A Ala GCG 0.107 266 255 PASS . 0.0009 0.01 . . . 0.0002 0.0014 . . . . . . . . 0.5060241 . . . 42 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 83.0 . . . 0.0009 0.0028 0.0037 0.0009 0.0028 0.0037 . I.32 . . . . . . . . 1.878e-03 . . . 0.0006 0.0017 0.0003 0 0.0008 0.0031 0.0028 0.0004 0.0006 0.0016 0.0004 0 0.0006 0.0027 0.0014 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.46 0.25 182 ENSG00000163141 BNIPL BNIPL . . . . . . 191 0.00293955 64976 190 0.00316741 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144766190 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522840 0.002768 . . . . II.94 0.0005 0.0021 0.0005 0.0003 0 0.0011 0.0040 0.0020 0.0003 0.0007 0.0030 0 0 0 0.0006 0.0055 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144766190 rs144766190 1 1538 10 1/0 0,255,255 +. 1 151584734 T TGGC - SNX27 20073 Sorting nexin family member 27 NM_030918.5 1 7085 1587 NP_112180.4 duplication in-frame exon GRCh37 151584748 151584749 Chr1(GRCh37):g.151584746_151584748dup 69 71 NM_030918.5:c.69_71dup p.Gly25dup p.Gly25dup 1 611541 -240 5' 71.0072 6.04897 0.62157 9.60709 71.0072 6.04897 0.62157 9.60709 0 rs567208173 yes no Frequency/1000G 2 0.000599 GGC 3 0.000599 0.000800 0.000000 0.000000 0.001000 0.001400 0.004485 0.001174 0.000954 0.000707 0.000000 0.001198 0.004645 0.012674 0.008374 0.012674 349 12 7 2 0 10 146 155 17 77818 10220 7334 2830 3390 8350 31434 12230 2030 0.000026 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000000 0.000000 1 0 0 0 0 0 1 0 0 347 12 7 2 0 10 144 155 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4702 1844 6546 18 5 23 0.00381356 0.00270416 0.00350129 0.00381356 0.00270416 0.00350129 3 CGG 255 Pass . . . . . 0.0008 0.0006 0.0014 . 0.001 . . SNX27:uc001eyn.1:exon1:c.57_58insGGC:p.G19delinsGG SNX27:NM_030918:exon1:c.57_58insGGC:p.G19delinsGG . . 0.2777778 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 90 . . CODON_INSERTION(MODERATE||-/GGC|-20G|SNX27|mRNA|CODING|NM_030918|NM_030918.ex.1) . . . 0.0027 0.0035 0.0038 . . . . . . . . . . . . . . 0 0.0029 0.0217 0 0 0.0043 0 0.0025 0 0.0055 0.025 0 0.0167 0.0107 0 0.0025 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000143376 SNX27 SNX27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs567208173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0038 0.0009 0 0 0.0123 0.0030 0.0066 0.0012 0.0014 0.0055 0.0012 0.0067 0 0.0136 0.0064 0.0103 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,56 +. 1 151747696 T C - TDRKH 11713 Tudor and KH domain containing NM_006862.3 -1 2330 1686 NP_006853.2 substitution intron GRCh37 151747696 151747696 Chr1(GRCh37):g.151747696T>C 1435-54 1435-54 NM_006862.3:c.1435-54A>G p.? p.? 11 10 609501 -54 3' 92.5697 X.66 0.991995 8.30609 92.5697 X.66 0.991995 8.35176 0 New Acceptor Site 151747695 XI.22 0.988388 86.1365 rs143320374 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002358 0.000573 0.000000 0.000000 0.000000 0.000000 0.003667 0.003150 0.002037 0.003667 73 5 0 0 0 0 55 11 2 30958 8728 838 302 1618 0 14998 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 73 5 0 0 0 0 55 11 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -0.682 255 PASS . 0.0018 . . 0.01 . 0.0006 . . 0.003 . . . . . . 0.6 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45.0 . . . . . . . . . . 0.1261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . 0.27 0.39 182 ENSG00000182134 TDRKH TDRKH . . . . . . 180 0.00277025 64976 177 0.00295069 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs143320374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0024 0 0 0 0.0032 0.0037 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs143320374 rs143320374 1 1538 10 1/0 0,255,255 +. 1 152129087 T C - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution missense exon GRCh37 152129087 152129087 Chr1(GRCh37):g.152129087T>C 488 488 NM_001122965.1:c.488A>G p.Lys163Arg p.Lys163Arg 3 613259 350 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 rs78544048 yes no Frequency/1000G 2 T 0.000000 0 0.274760 0.221600 0.279100 0.299600 0.177900 0.474100 0.000110 0.000853 0.000000 0.000000 0.000000 0.000033 0.000117 0.000000 0.000000 0.000853 27 13 0 0 0 1 13 0 0 245720 15248 33550 9822 17240 30768 111334 22284 5474 0.111111 0.076923 0.000000 0.000000 0.000000 0.000000 0.153846 0.000000 0.000000 3 1 0 0 0 0 2 0 0 21 11 0 0 0 1 9 0 0 0 0 0 0 0 0 0 0 0 PASS 310 Exomes 6741 2911 9652 403 221 624 0.056411 0.0705619 0.060724 0.056411 0.0705619 0.060724 420 COSM3927612|COSM3927612 Prostate|Haematopoietic and lymphoid tissue 0.002268|0.000283 1764|3530 transition A G A>G 0.000 -0.763 K Lys AAA 0.425 R Arg AGA 0.205 163 11 5 Rat 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 81.64 0.00 Tolerated 1 III.52 good 9.963E-1 0.04538 255 PASS 0.18 0.23 0.35 0.27 0.17 0.22 0.27 0.47 0.3 0.18 0.28 ENSG00000215853:ENST00000316073:exon3:c.A488G:p.K163R RPTN:uc001ezs.1:exon3:c.A488G:p.K163R RPTN:NM_001122965:exon3:c.A488G:p.K163R . . 0.51741296 . . . 104 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . . . . . . . 1 0.006 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K163R|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) 0.071 0.061 0.056 0.071 0.061 0.056 . -1.9967 -1.927 -1.997 c . . . . . 2.296e-04 . . . 0.0011 0.0003 0.0009 0 0 0.0002 0 0.0002 0.0012 0.0003 0.0009 0 0 0.0001 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.129 . . exonic exonic exonic . . 0.037 . . ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.23 0.28 182 ENSG00000215853 RPTN RPTN . . . 0.393 0.201 . 12938 0.19912 64976 11571 0.192895 59986 Benign . 0 . 0.111 . . . . . . . . . 37 . 0.005 . . 0.388 . . . 0.009 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.039 . . 0 0 0 0 . 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.159 . 0.000 . HET 1 rs78544048 0.196 0.167 . . . . . 0.22847985347985347 0.18292682926829268 0.35082872928176795 0.2727272727272727 0.1662269129287599 V.28 0.04346 ENST00000316073 IV.82 -4.06 . 0.690000 Q6XPR3 . . . 0.060724 . 0.014 . . . 0.0009 0.0001 0 0 0 0 0.0001 0 3.25e-05 . . . . . . . . . . 0.133 . -1.459 -1.459000 . . 0.690000 . . 1.0E-255 0.000 0.063 . 0.016 0.685 . 0.079 . 0.017 -1.459 -1.062 0.35 . . rs78544048 rs78544048 1 1538 10 1/0 0,230,244 +. 1 152129094 A G - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution missense exon GRCh37 152129094 152129094 Chr1(GRCh37):g.152129094A>G 481 481 NM_001122965.1:c.481T>C p.Ser161Pro p.Ser161Pro 3 613259 343 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 rs76015112 yes no Frequency/1000G 2 A 0.000000 0 0.274760 0.221600 0.279100 0.299600 0.177900 0.474100 0.000101 0.000588 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 0.000588 28 14 0 0 0 0 14 0 0 276228 23812 34378 10120 18834 30762 126122 25758 6442 0.000022 0.000084 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 3 1 0 0 0 0 2 0 0 22 12 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6818 2948 9766 318 178 496 0.0445628 0.0569418 0.0483337 0.0445628 0.0569418 0.0483337 423 COSM3927613|COSM3927613|COSM3927613 Thyroid|Prostate|Haematopoietic and lymphoid tissue 0.001339|0.002268|0.000283 747|1764|3530 transition T C T>C 0.000 -1.086 S Ser TCT 0.185 P Pro CCT 0.283 161 11 7 Megabat -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 244.82 0.00 Tolerated 0.28 III.80 good 2.726E-1 0.2174 255 PASS 0.09 0.16 0.29 0.23 0.1 0.22 0.27 0.47 0.3 0.18 0.28 ENSG00000215853:ENST00000316073:exon3:c.T481C:p.S161P RPTN:uc001ezs.1:exon3:c.T481C:p.S161P RPTN:NM_001122965:exon3:c.T481C:p.S161P . . 0.47263682 . . . 95 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.013 . . . . . . . 1 0.037 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S161P|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) 0.057 0.048 0.045 0.057 0.048 0.045 . -2.1418 -2.216 -2.142 c . . . . . 2.352e-04 . . . 0.0011 0.0003 0.0009 0 0 0.0002 0 0.0002 0.0013 0.0003 0.0010 0 0 0.0001 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.144 . . exonic exonic exonic . . 0.014 . . ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.24 0.31 182 ENSG00000215853 RPTN RPTN . . . 0.975 0.296 . 12951 0.19932 64976 11584 0.193112 59986 Benign . 0 . 0.089 . . . . . . . . . 37 . 0.018 . . 0.402 . . . 0.163 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.584 . . 0 0 0 0 . 0 . 0.119 . . 0.093 . . . . . . 0 0.276 . . . . . 0.023 . 0.008 . HET 0 rs76015112 0.196 0.167 . . . . . 0.16483516483516483 0.09146341463414634 0.2900552486187845 0.23076923076923078 0.10290237467018469 I.68 0.034264 ENST00000316073 IV.57 -7.09 . 0.230000 Q6XPR3 . . . 0.048334 . 0.052 . . . 0.0008 0.0001 0 0 0 0 0.0001 0 0 0.0002 6.546e-05 0 0 0 0 0 0 . . 0.133 . -2.026 -2.026000 . . 0.230000 . . 1.0E-255 0.000 0.063 . 0.043 0.761 . 0.030 . 0.001 -2.026 -0.123 0.29 . . rs76015112 rs76015112 1 1538 10 1/0 0,229,252 +. 1 152129100 C T - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution missense exon GRCh37 152129100 152129100 Chr1(GRCh37):g.152129100C>T 475 475 NM_001122965.1:c.475G>A p.Gly159Ser p.Gly159Ser 3 613259 337 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 New Acceptor Site 152129098 0.306447 0.023097 68.3521 rs200003389 yes no Frequency 1 C 0.000000 0 7133 3128 10261 1 0 1 0.000140174 0 9.74469e-05 0.000140174 0 9.74469e-05 427 COSM1626443|COSM1626443|COSM1626443|COSM1626443|COSM1626443 Thyroid|Soft tissue|Prostate|Liver|Large intestine 0.002677|0.009191|0.001134|0.001687|0.000901 747|544|1764|2371|2220 transition G A G>A 0.000 -0.037 G Gly GGT 0.162 S Ser AGT 0.149 159 11 7 Megabat 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Tolerated 0.3 III.80 good 9.648E-1 0.08443 205 PASS . . . . . . . . . . . ENSG00000215853:ENST00000316073:exon3:c.G475A:p.G159S RPTN:uc001ezs.1:exon3:c.G475A:p.G159S RPTN:NM_001122965:exon3:c.G475A:p.G159S . . 0.2 . . . 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.077 . . . . . . . 1 0.049 . . 180.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G159S|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) . 0.0001 0.0001 . 0.0001 0.0001 . -0.8876 -1.040 -0.888 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.102 . . . . 0.18 0.34 182 ENSG00000215853 RPTN RPTN . . . 0.066 0.154 . . . . . . . Uncertain_significance . 0 . 0.140 . . . . T 0.117 0.005 . . 37 . 0.026 . . 0.393 . . . 0.193 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.439 . . 0 0 0 0 . 0 . 0.472 . . 0.383 . . . . . . 0 0.257 . . . . . 0.106 . 0.003 . HET 0.32 rs200003389 . . . . . . . . . . . . IV.11 . ENST00000316073 IV.57 -0.815 . 0.230000 Q6XPR3 . . . 0.000097 . 0.071 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.522 -0.522000 . . 0.230000 . . 1.0E-205 0.000 0.063 . 0.016 0.900 . 0.074 . 0.002 -0.522 -0.512 0.0001 . . rs200003389 rs200003389 1 1538 10 1/0 0,211,255 +. 1 152129101 A G - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution synonymous exon GRCh37 152129101 152129101 Chr1(GRCh37):g.152129101A>G 474 474 NM_001122965.1:c.474T>C p.His158= p.His158His 3 613259 336 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 Cryptic Donor Strongly Activated 152129100 6.56754 0.87826 81.2997 8.02041 0.970732 80.8966 rs117596468 yes no Frequency/1000G 2 A 0.000000 0 0.000105 0.000126 0.000000 0.000000 0.000000 0.000000 0.000206 0.000000 0.000000 0.000206 29 3 0 0 0 0 26 0 0 276338 23838 34382 10120 18840 30770 126186 25756 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 3 0 0 0 0 26 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1626444|COSM1626444|COSM1626444|COSM1626444|COSM1626444 Thyroid|Prostate|Liver|Large intestine|Central nervous system 0.002677|0.000567|0.000844|0.001351|0.000416 747|1764|2371|2220|2405 transition T C T>C 0.000 -0.279 H His CAT 0.413 H His CAC 0.587 158 214 PASS 0.02 0.05 0.11 0.06 0.03 . . . . . . ENSG00000215853:ENST00000316073:exon3:c.T474C:p.H158H RPTN:uc001ezs.1:exon3:c.T474C:p.H158H RPTN:NM_001122965:exon3:c.T474C:p.H158H . . 0.19473684 . . . 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 190.0 . . SYNONYMOUS_CODING(LOW|SILENT|caT/caC|H158|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) . . . . . . . -0.1662 . . . . . . . . 1.444e-04 . . . 0.0004 0.0002 0.0001 0 0 0.0002 0 7.433e-05 0.0004 0.0001 0.0001 0 0 0.0001 0 7.477e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.2 0.33 182 ENSG00000215853 RPTN RPTN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117596468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 9.767e-05 0 0 0 0 0.0002 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . 0.11 . . rs117596468 rs117596468 1 1538 10 1/0 0,207,255 +. 1 152129115 T C - RPTN 26809 Repetin NM_001122965.1 -1 3569 2355 NP_001116437.1 Q6XPR3 substitution missense exon GRCh37 152129115 152129115 Chr1(GRCh37):g.152129115T>C 460 460 NM_001122965.1:c.460A>G p.Arg154Gly p.Arg154Gly 3 613259 322 3' 87.2302 9.37336 0.950291 7.74758 87.2302 9.37336 0.950291 7.74758 0 rs113327860 yes no Frequency 1 T 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 0.000000 0.000057 1 0 0 0 0 1 0 0 0 150592 10566 10774 3780 9740 17642 77754 17194 3142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 325 Exomes 7144 3133 10277 20 3 23 0.00279174 0.000956633 0.00223301 0.00279174 0.000956633 0.00223301 505 COSM1498488|COSM1498488|COSM1498488|COSM1498488|COSM1498488 Upper aerodigestive tract|Thyroid|Lung|Liver|Large intestine 0.000804|0.005355|0.000837|0.000844|0.000901 1244|747|2389|2371|2220 transition A G A>G 0.000 -1.409 R Arg AGA 0.205 G Gly GGA 0.246 154 11 8 Megabat -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C15 56.64 86.56 Deleterious 0.01 III.52 bad 8.06E-4 0.001412 208 PASS . . . . . . . . . . . ENSG00000215853:ENST00000316073:exon3:c.A460G:p.R154G RPTN:uc001ezs.1:exon3:c.A460G:p.R154G RPTN:NM_001122965:exon3:c.A460G:p.R154G . . 0.17821783 . . . 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.271 . . . . . . . 1 0.160 . . 202.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R154G|RPTN|mRNA|CODING|NM_001122965|NM_001122965.ex.3) 0.001 0.0022 0.0028 0.001 0.0022 0.0028 . -1.0272 -1.292 -1.027 c . . . . . . . . . 0.0003 3.465e-05 0 0 0 0 0 0 0.0003 2.858e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.143 . . exonic exonic exonic . . 0.005 . . . . 0.25 0.31 182 ENSG00000215853 RPTN RPTN . . . 1.000 0.424 . 4999 0.0769361 64976 4735 0.0789351 59986 Uncertain_significance . 0 . 0.078 . . . . T 0.161 0.006 . . 37 . 0.051 . . 0.082 . . . 0.662 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.611 . . 0 0 0 0 . 0 . 0.412 . . 0.384 . . . . . . 0 0.538 . . . . . 0.156 . 0.146 . HET 0.02 rs113327860 . . . . . . . . . . . . V.46 8.42E-4 ENST00000316073 V.18 -9.31 . 0.150000 Q6XPR3 . . . 0.002233 . 0.120 . . . 0 6.64e-06 0 0 0 0 0 0 5.668e-05 . . . . . . . . . . 0.133 . -1.180 -1.180000 . . 0.150000 . . 9.999999999999999E-209 0.000 0.063 . 0.095 0.946 . 0.112 . 0.159 -1.180 0.991 0.0028 . . rs113327860 rs113327860 1 1538 10 1/0 0,203,255 +. 1 152188212 C T - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152188212 152188212 Chr1(GRCh37):g.152188212C>T 5893 5893 NM_001009931.2:c.5893G>A p.Gly1965Ser p.Gly1965Ser 3 616293 5755 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 rs4248393 no no 0 C 0.000000 0 0.002231 0.000656 0.003368 0.000000 0.023969 0.001090 0.000207 0.000438 0.000793 0.023969 603 15 112 0 401 33 26 11 5 270264 22882 33252 10118 16730 30276 125560 25140 6306 0.000015 0.000000 0.000000 0.000000 0.000239 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 599 15 112 0 397 33 26 11 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.528 G Gly GGC 0.342 S Ser AGC 0.243 1965 7 4 Tree shrew 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 215.19 III.24 Tolerated 0.35 III.61 186 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.G5893A:p.G1965S HRNR:uc001ezt.2:exon3:c.G5893A:p.G1965S HRNR:NM_001009931:exon3:c.G5893A:p.G1965S . . 0.1263048 . . . 121 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.220 . . . . . . . 1 0.083 . . 958.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1965S|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -0.8121 -0.957 -0.812 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.045 . . exonic exonic exonic . . 0.153 . . . . 0.45 0.32 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.071 0.003 . . 37 . 0.008 . . 0.468 . . . 0.778 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 . 0 . 0.622 . . 0.405 . . . . . . 0 0.285 . . . . . 0.249 . 0.179 . LowAF 0.59 rs4248393 . . . . . . . . . . . . VII.35 . ENST00000368801 III.39 0.367 . 0.500000 Q86YZ3 . . . . . 0.064 . . . 0.0004 0.0023 0.0033 0 0.0246 0 0.0002 0.0006 0.0011 0.0012 0.0017 0.0094 0 0.0144 0.0038 0.0003 0.0023 . . 0.246 . -0.027 -0.027000 . . 0.500000 . . 1.0E-186 0.000 0.063 . 0.016 0.009 . 0.002 . 0.014 -0.027 0.871 . . . rs4248393 rs4248393 1 1538 10 1/0 0,131,222 +. 1 152188262 C A - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152188262 152188262 Chr1(GRCh37):g.152188262C>A 5843 5843 NM_001009931.2:c.5843G>T p.Ser1948Ile p.Ser1948Ile 3 616293 5705 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 Cryptic Acceptor Strongly Activated 152188255 0.002511 4.40168 0.051502 74.6334 rs368306077 yes no Frequency 1 C 0.000000 0 0.000118 0.000179 0.000030 0.000000 0.000000 0.000000 0.000177 0.000117 0.000315 0.000179 32 4 1 0 0 0 22 3 2 270244 22338 33626 10056 17682 30348 124154 25692 6348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 4 1 0 0 0 22 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8035 3841 11876 1 1 2 0.00012444 0.000260281 0.000168379 0.00012444 0.000260281 0.000168379 167 transversion G T G>T 0.000 1.174 S Ser AGC 0.243 I Ile ATC 0.481 1948 7 4 Cat -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C0 135.70 75.99 Tolerated 0.07 III.58 180 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.G5843T:p.S1948I HRNR:uc001ezt.2:exon3:c.G5843T:p.S1948I HRNR:NM_001009931:exon3:c.G5843T:p.S1948I . . 0.112094395 . . . 114 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.188 . . . . . . . 1 0.093 . . 1017.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aTc|S1948I|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) 0.0003 0.0002 0.0001 0.0003 0.0002 0.0001 . -0.3365 -0.568 -0.337 c . . . . . 1.270e-03 . . . 0.0007 0.0010 0.0005 0 0 0.0015 0 0.0008 0.0008 0.0011 0.0006 0 0.0002 0.0016 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.021 . . exonic exonic exonic . . 0.280 . . . . 0.43 0.34 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.019 . . 0.503 . . . 0.543 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.534 . . 0 0 0 0 . 0 . 0.548 . . 0.537 . . . . . . 0 0.555 . . . . . 0.139 . 0.406 . LowAF 0.05 rs368306077 . . . . . . . . . . . . 5.0882 2.94E-4 ENST00000368801 II.35 II.35 . 0.190000 Q86YZ3 . . . 0.000168 . 0.119 . . II.35 0 8.316e-06 0 0 0 0 1.827e-05 0 0 0.0005 0.0010 0.0012 0 0 0.0009 0.0014 0.0021 . . 0.133 . 1.304 1.304000 . . 0.190000 . . 1.0E-180 0.000 0.063 . 0.016 0.002 . 0.201 . 0.123 1.304 -1.598 0.0003 . . rs368306077 . 1 1538 10 1/0 0,127,244 +. 1 152190330 C T - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152190330 152190330 Chr1(GRCh37):g.152190330C>T 3775 3775 NM_001009931.2:c.3775G>A p.Gly1259Ser p.Gly1259Ser 3 616293 3637 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 rs200844006 yes no Frequency 1 C 0.000000 0 0.008482 0.001179 0.002250 0.008475 0.011667 0.011913 0.011051 0.041176 0.012640 0.041176 221 6 8 5 42 35 102 14 9 26054 5088 3556 590 3600 2938 9230 340 712 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 221 6 8 5 42 35 102 14 9 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4592719|COSM4592719|COSM4592719 Upper aerodigestive tract|Thyroid|Haematopoietic and lymphoid tissue 0.011254|0.001339|0.000283 1244|747|3530 transition G A G>A 0.000 -0.521 G Gly GGC 0.342 S Ser AGC 0.243 1259 7 2 Bushbaby 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 144.64 0.00 Tolerated 0.74 III.58 200 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.G3775A:p.G1259S HRNR:uc001ezt.2:exon3:c.G3775A:p.G1259S HRNR:NM_001009931:exon3:c.G3775A:p.G1259S . . 0.15873016 . . . 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.168 . . . . . . . 1 0.069 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1259S|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -1.0650 -1.222 -1.065 c . . . . . 2.437e-03 . . . 0 0 0 . . 0 . 0 0 0 0 . . 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.039 . . exonic exonic exonic . . 0.062 . . . . 0.28 0.31 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.011 . . 0.456 . . . 0.458 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.251 . . 0 0 0 0 . 0 . 0.351 . . 0.176 . . . . . . 0 0.410 . . . . . 0.286 . 0.269 . HET 0.76 rs200844006 . . . . . . . . . . . . VII.58 0.011905 ENST00000368801 3.I -2.37 . 0.500000 Q86YZ3 . . . . . 0.026 . . . 0.0016 0.0089 0.0023 0.0085 0.0117 0.0412 0.0111 0.0128 0.0119 0 0 0 0 . . 0 0 . . 0.133 . -0.283 -0.283000 . . 0.500000 . . 1.0E-200 0.000 0.063 . 0.016 0.000 . 0.025 . 0.059 -0.283 -1.152 . . . rs200844006 rs200844006 1 1538 10 1/0 0,222,255 +. 1 152190408 C T - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152190408 152190408 Chr1(GRCh37):g.152190408C>T 3697 3697 NM_001009931.2:c.3697G>A p.Gly1233Ser p.Gly1233Ser 3 616293 3559 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 New Acceptor Site 152190406 2.20196 0.007764 76.7416 rs202137328 yes no Frequency 1 C 0.000000 0 0.008647 0.032151 0.005245 0.002463 0.003039 0.001632 0.002569 0.002283 0.002101 0.032151 295 214 24 2 15 6 31 1 2 34114 6656 4576 812 4936 3676 12068 438 952 0.000528 0.002404 0.000437 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 9 8 1 0 0 0 0 0 0 277 198 22 2 15 6 31 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424539 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.000 0.367 G Gly GGC 0.342 S Ser AGC 0.243 1233 7 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 178 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.G3697A:p.G1233S HRNR:uc001ezt.2:exon3:c.G3697A:p.G1233S HRNR:NM_001009931:exon3:c.G3697A:p.G1233S . . 0.11111111 . . . 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.193 . . . . . . . 1 0.092 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1233S|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -0.7699 -0.957 -0.770 c . . . . . 7.669e-04 . . . . . . . . . . . 0 0 0 . . 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.057 . . exonic exonic exonic . . 0.176 . . . . 0.34 0.3 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.013 . . 0.379 . . . 0.507 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 . 0 . 0.581 . . 0.358 . . . . . . 0 0.237 . . . . . 0.200 . 0.124 . LowAF 0 rs202137328 . . . . . . . . . . . . VI.92 0.02071 ENST00000368801 II.95 0.768 . 1.000000 Q86YZ3 . . . . . 0.011 . . . 0.0399 0.0090 0.0053 0.0025 0.0030 0.0023 0.0026 0.0021 0.0016 0.0008 0.0007 0 . . . 0 0 . . 0.133 . 0.049 0.049000 . . 1.000000 . . 1.0E-178 0.000 0.063 . 0.062 0.001 . 0.017 . 0.313 0.049 -0.041 . . . rs202137328 rs202137328 1 1538 10 1/0 0,255,255 +. 1 152190647 C G - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution missense exon GRCh37 152190647 152190647 Chr1(GRCh37):g.152190647C>G 3458 3458 NM_001009931.2:c.3458G>C p.Ser1153Thr p.Ser1153Thr 3 616293 3320 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 Cryptic Acceptor Strongly Activated 152190643 4.76474 0.214263 6.99345 0.29514 76.234 rs201434802 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000800 0.000000 0.002000 0.000000 0.000000 0.001867 0.000302 0.001493 0.001304 0.000587 0.006083 0.001177 0.008034 0.001415 0.008034 136 3 18 2 5 42 33 30 3 72836 9922 12058 1534 8522 6904 28042 3734 2120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136 3 18 2 5 42 33 30 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1733372|COSM1733372 Thyroid|Pancreas 0.001339|0.000569 747|1758 transversion G C G>C 0.000 0.044 S Ser AGC 0.243 T Thr ACC 0.361 1153 7 4 Cat 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 208.58 30.IX Tolerated 0.16 III.61 185 PASS . . . . . 0.0008 0.0006 . 0.002 . . ENSG00000197915:ENST00000368801:exon3:c.G3458C:p.S1153T HRNR:uc001ezt.2:exon3:c.G3458C:p.S1153T HRNR:NM_001009931:exon3:c.G3458C:p.S1153T . . 0.12330827 . . . 82 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.067 . . . . . . . 1 0.076 . . 665.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aCc|S1153T|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -1.1192 -1.161 -1.119 c . . . . . 4.814e-04 . . . 0 0.0080 0 0 0 0 0 0.0426 0.0147 0.0134 0 0 0 0 0 0.0426 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.052 . . exonic exonic exonic . . 0.148 . . . . 0.26 0.23 182 ENSG00000197915 HRNR HRNR . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.010 . . 0.475 . . . 0.579 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 . 0 . 0.190 . . 0.121 . . . . . . 0 0.195 . . . . . 0.111 . 0.306 . LowAF 0.62 rs201434802 . . . . . . ID\x3dCOSM1733372\x3bOCCURENCE\x3d1(pancreas) . . . . . IV.91 . ENST00000368801 III.53 0.255 . 0.590000 Q86YZ3 . . . . . 0.089 . . . 0.0002 0.0016 0.0014 0.0014 0.0003 0.0073 0.0008 0.0007 0.0061 0.0004 0.0028 0.0033 0 0.0034 0.0082 0.0022 0.0034 . . 0.246 . -0.038 -0.038000 . . 0.590000 . . 1.0E-185 0.000 0.063 . 0.016 0.005 . 0.108 . 0.115 -0.038 0.744 . . . rs77670650 rs201434802 1 1538 10 1/0 0,146,255 +. 1 152190652 A G - HRNR 20846 Hornerin NM_001009931.2 -1 9632 8553 NP_001009931.1 Q86YZ3 substitution synonymous exon GRCh37 152190652 152190652 Chr1(GRCh37):g.152190652A>G 3453 3453 NM_001009931.2:c.3453T>C p.Ser1151= p.Ser1151Ser 3 616293 3315 3' 91.3844 9.40868 0.948223 7.49785 91.3844 9.40868 0.948223 7.49785 0 rs200579715 yes no Frequency 1 A 0.000000 0 0.000147 0.000098 0.000167 0.000000 0.000350 0.000431 0.000068 0.000000 0.000000 0.000431 11 1 2 0 3 3 2 0 0 74738 10246 11982 1550 8564 6962 29318 3932 2184 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 2 0 3 3 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.044 S Ser TCT 0.185 S Ser TCC 0.220 1151 193 PASS . . . . . . . . . . . ENSG00000197915:ENST00000368801:exon3:c.T3453C:p.S1151S HRNR:uc001ezt.2:exon3:c.T3453C:p.S1151S HRNR:NM_001009931:exon3:c.T3453C:p.S1151S . . 0.14015748 . . . 89 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 635.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S1151|HRNR|mRNA|CODING|NM_001009931|NM_001009931.ex.3) . . . . . . . -0.0392 . . . . . . . . 1.767e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.26 0.21 182 ENSG00000197915 HRNR HRNR . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200579715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0.0002 0 0.0004 0 5.027e-05 0 0.0004 0 4.99e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs200579715 rs200579715 1 1538 10 1/0 0,150,255 +. 1 152552197 G A - LCE3D 16615 Late cornified envelope 3D NM_032563.1 -1 610 279 NP_115952.1 Q9BYE3 substitution synonymous exon GRCh37 152552197 152552197 Chr1(GRCh37):g.152552197G>A 216 216 NM_032563.1:c.216C>T p.Asp72= p.Asp72Asp 2 612616 237 3' 98.0071 8.30357 0.870734 6.80417 98.0071 8.30357 0.870734 6.80417 0 rs138761139 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.004000 0.004300 0.007110 0.000501 0.004642 0.023744 0.000000 0.003931 0.007674 0.014927 0.012218 0.023744 1969 12 159 241 0 121 972 385 79 276920 23974 34250 10150 18852 30782 126654 25792 6466 0.000181 0.000000 0.000467 0.000985 0.000000 0.000065 0.000079 0.000388 0.000309 25 0 8 5 0 1 5 5 1 1919 12 143 231 0 119 962 375 77 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4404 12947 57 2 59 0.00662791 0.000453926 0.00453637 0.00662791 0.000453926 0.00453637 66 COSM328073 Pancreas 0.000569 1758 transition C T C>T 0.000 -1.005 D Asp GAC 0.539 D Asp GAT 0.461 72 255 PASS . 0.0027 0.01 . 0.01 . 0.0016 0.0043 . 0.004 0.001 ENSG00000163202:ENST00000368787:exon2:c.C216T:p.D72D . LCE3D:NM_032563:exon2:c.C216T:p.D72D . . 0.43636364 . . . 48 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . . . . . . . 2 . . . 110.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D72|LCE3D|mRNA|CODING|NM_032563|NM_032563.ex.2) 0.0005 0.0045 0.0066 0.0005 0.0045 0.0066 . 0.0320 . . . . . . . . 6.504e-03 . . . 0.0004 0.0064 0.0034 0 0.0174 0.0095 0.0113 0.0036 0.0003 0.0064 0.0032 0 0.0148 0.0088 0.0087 0.0037 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.17 0.29 182 ENSG00000163202 LCE3D LCE3D . . . . . . 511 0.00786444 64976 503 0.00838529 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138761139 . . . . . . . . . . . . . . . . . . . . . . . 0.004536 . . . . . 0.0004 0.0070 0.0046 0.0234 0 0.0143 0.0073 0.0113 0.0039 0.0007 0.0083 0.0048 0.0364 0 0.0189 0.0102 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs138761139 rs138761139 1 1538 10 1/0 0,248,255 +. 1 153043241 C T - SPRR2B 11262 Small proline-rich protein 2B NM_001017418.2 -1 675 219 NP_001017418.1 P35325 substitution synonymous exon GRCh37 153043241 153043241 Chr1(GRCh37):g.153043241C>T 75 75 NM_001017418.2:c.75G>A p.Glu25= p.Glu25Glu 2 182268 94 3' 89.5789 X.87 0.984956 XII.58 89.5789 X.87 0.984956 XII.58 0 rs767338983 yes no Frequency 1 C 0.000000 0 0.000026 0.000067 0.000000 0.000000 0.000000 0.000000 0.000019 0.000143 0.000000 0.000143 6 1 0 0 0 0 2 3 0 231004 14892 32762 8296 17114 27560 104198 21030 5152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transition G A G>A 0.079 0.367 E Glu GAG 0.583 E Glu GAA 0.417 25 203 PASS . . . . . . . . . . . . SPRR2B:uc001fbg.3:exon2:c.G75A:p.E25E SPRR2B:NM_001017418:exon2:c.G75A:p.E25E . . 0.16981132 . . . 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . . . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E25|SPRR2B|mRNA|CODING|NM_001017418|NM_001017418.ex.2) . . . . . . . 0.2273 . . . . . . . . 1.581e-05 . . . 0 2.511e-05 0 0 0.0003 2.649e-05 0 0 0 2.126e-05 0 0 0.0002 2.014e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . . . . . 0.05 0.2 182 ENSG00000196805 SPRR2B SPRR2B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 . 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs767338983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.715e-05 2.597e-05 0 0 0 0.0001 1.919e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs61735538 rs61735538 1 1538 10 1/0 0,255,255 +. 1 153066050 A C - SPRR2E 11265 Small proline-rich protein 2E NM_001024209.3 -1 681 219 NP_001019380.2 P22531 substitution missense exon GRCh37 153066050 153066050 Chr1(GRCh37):g.153066050A>C 178 178 NM_001024209.3:c.178T>G p.Ser60Ala p.Ser60Ala 2 617588 197 3' 89.5789 9.93706 0.979925 11.1681 89.5789 9.93706 0.979925 11.1681 0 rs138808935 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.004100 0.000000 0.000000 0.000000 0.001500 0.000333 0.000610 0.001382 0.000106 0.002573 0.001996 0.001125 0.001549 0.002573 415 8 21 14 2 79 252 29 10 276650 24028 34414 10130 18864 30708 126276 25776 6454 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 413 8 21 14 2 77 252 29 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4404 12985 19 2 21 0.0022093 0.000453926 0.00161464 0.0022093 0.000453926 0.00161464 245 transversion T G T>G 0.000 -0.037 S Ser TCC 0.220 A Ala GCC 0.403 60 6 6 Olive baboon 1 1 2 I.42 0 9.II 8.I 32 31 99 C65 0.00 99.13 Deleterious 0 IV.32 255 PASS . . . . . . 0.0008 . . . 0.0041 . . SPRR2E:NM_001024209:exon2:c.T178G:p.S60A . . 0.5072464 . . . 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . . . . . . . 1 0.051 . . 69.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S60A|SPRR2E|mRNA|CODING|NM_001024209|NM_001024209.ex.2) 0.0005 0.0016 0.0022 0.0005 0.0016 0.0022 . -1.1361 -1.213 -1.136 c . . . . . 1.547e-03 . . . 0.0002 0.0017 0.0004 0 0.0011 0.0023 0.0042 0.0030 0.0002 0.0015 0.0004 0 0.0011 0.0018 0.0043 0.0030 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.301 . . exonic exonic exonic . . 0.126 . . . . 0.32 0.25 182 ENSG00000203785 SPRR2E SPRR2E . . . 0.001 0.074 . 125 0.00192379 64976 121 0.00201714 59986 Uncertain_significance . 0 . 0.107 . . . . T 0.117 0.005 . . 37 . 0.092 . . 0.376 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 . 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.241 . 0.069 . HET . rs138808935 . . . . . . . . . . . . 7.053 5.35E-4 . IV.13 -0.178 . 0.000000 P22531 . . . 0.001615 . 0.069 . . . 0.0002 0.0016 0.0006 0.0013 0.0001 0.0011 0.0021 0.0018 0.0026 0.0006 0.0009 0.0012 0.0033 0 0.0014 0.0011 0 . . 0.133 . -0.359 -0.359000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.074 0.001 . 0.111 . 0.116 -0.359 0.075 0.0022 . . rs138808935 rs138808935 1 1538 10 1/0 0,255,255 +. 1 153234011 T G - LOR 6663 Loricrin NM_000427.2 1 1229 939 NP_000418.2 P23490 substitution missense exon GRCh37 153234011 153234011 Chr1(GRCh37):g.153234011T>G 586 586 NM_000427.2:c.586T>G p.Cys196Gly p.Cys196Gly 2 152445 609 3' 92.1811 X.03 0.982793 X.62 92.1811 X.03 0.982793 X.62 0 rs142603426 yes no Frequency/1000G 2 T 0.000000 0 0.000032 0.000218 0.000000 0.000000 0.000000 0.000000 0.000041 0.000000 0.000000 0.000218 4 2 0 0 0 0 2 0 0 126304 9156 20640 7330 8716 19866 48882 8016 3698 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4169128|COSM4169128 Peritoneum|Large intestine 0.100000|0.000448 10|2231 transversion T G T>G 0.118 -0.360 C Cys TGC 0.552 G Gly GGC 0.342 196 8 8 Little brown bat -3 -3 -6 II.75 0.74 5.V 9 55 3 159 C65 0.00 158.23 Deleterious 0 III.71 bad 1.015E-3 0.0001185 203 PASS 0.2 0.18 0.2 0.15 0.18 . . . . . . ENSG00000203782:ENST00000368742:exon2:c.T586G:p.C196G . LOR:NM_000427:exon2:c.T586G:p.C196G . . 0.17142858 . . . 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . . . . . . . 1 0.035 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Ggc|C196G|LOR|mRNA|CODING|NM_000427|NM_000427.ex.2) . . . . . . . -1.2303 -1.156 -1.230 c . . . . . 2.103e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.083 . . . . 0.17 0.43 182 ENSG00000203782 LOR LOR . . . 1.000 0.434 . . . . . . . Uncertain_significance . 0 . 0.241 . . . . T 0.146 0.006 . . 37 . 0.028 . . 0.400 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.912 . . 0 0 0 0 . 0 . 0.090 . . 0.063 . . . . . . 0 . . . . . . 0.088 . 0.326 . HET . rs142603426 0.011 0.007 . . . . . 0.1813186813186813 0.1991869918699187 0.19613259668508287 0.1520979020979021 0.18469656992084432 III.32 0.008314 . III.98 -1.47 . 0.000000 P23490 . . . . . 0.183 . . . 0.0004 1.971e-05 0 0 0 0 2.699e-05 0 0 0.0001 8.052e-05 0 0 0 0 8.45e-05 0 . . 0.217 . -0.521 -0.521000 . . 0.000000 . . 1.0E-203 0.000 0.063 . 0.243 0.981 . 0.140 . 0.350 -0.521 0.970 0.2 . . rs142603426 rs142603426 1 1538 10 1/0 0,255,255 +. 1 153303549 C CA - PGLYRP4 30015 Peptidoglycan recognition protein 4 NM_020393.3 -1 2129 1122 NP_065126.2 Q96LB8 duplication intron GRCh37 153303549 153303550 Chr1(GRCh37):g.153303550dup 944-129 944-129 NM_020393.3:c.944-129dup p.? p.? 9 8 608198 -128 3' 89.8876 X.14 0.929616 9.94966 89.8876 X.14 0.929616 9.94966 0 rs570453963 yes no Frequency/1000G 2 0.001597 A 8 0.001597 0.002300 0.001000 0.000000 0.001000 0.004300 0.002765 0.000469 0.003606 0.006623 0.000000 0.000000 0.004675 0.001225 0.002128 0.006623 83 4 3 2 0 0 68 4 2 30018 8526 832 302 1606 0 14546 3266 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 4 3 2 0 0 68 4 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes T 255 Pass . . . . . 0.0023 0.0016 0.0043 . 0.001 0.001 . . . . . 0.5833333 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60 . . INTRON(MODIFIER||||PGLYRP4|mRNA|CODING|NM_020393|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000163218 PGLYRP4 PGLYRP4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs570453963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0028 0.0036 0.0066 0 0.0012 0.0047 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +. 1 153604012 A G - S100A1 10486 S100 calcium binding protein A1 NM_006271.1 1 594 285 NP_006262.1 P23297 substitution intron GRCh37 153604012 153604012 Chr1(GRCh37):g.153604012A>G 142-162 142-162 NM_006271.1:c.142-162A>G p.? p.? 3 2 176940 -162 3' 82.641 10.121 0.988619 13.9367 82.641 10.121 0.988619 13.9367 0 transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.39130434 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000272030 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 153604012 A G - S100A13 10490 S100 calcium binding protein A13 NM_001024211.1 -1 613 297 NP_001019382.1 Q99584 substitution upstream GRCh37 153604012 153604012 Chr1(GRCh37):g.153604012A>G -4115 -4115 NM_001024211.1:c.-4115T>C p.? p.? 1 601989 -4054 5' 86.6769 9.89081 0.992372 8.44807 86.6769 9.89081 0.992372 8.44807 0 transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.39130434 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.0496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000272030 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs115199989 1 153924297 C A - CRTC2 27301 CREB regulated transcription coactivator 2 NM_181715.2 -1 2678 2082 NP_859066.1 Q53ET0 substitution intron GRCh37 153924297 153924297 Chr1(GRCh37):g.153924297C>A 998-155 998-155 NM_181715.2:c.998-155G>T p.? p.? 11 10 608972 -155 3' 86.9491 XI.71 0.856421 10.0654 86.9491 XI.71 0.856421 10.0654 0 New Donor Site 153924299 8.67858 0.962232 89.8108 rs115199989 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.000800 0.001000 0.000000 0.012900 0.008600 0.008963 0.002411 0.005967 0.009934 0.000000 0.000000 0.013896 0.008309 0.011247 0.013896 277 21 5 3 0 0 208 29 11 30906 8710 838 302 1620 0 14968 3490 978 0.007220 0.000000 0.000000 0.000000 0.000000 0.000000 0.009615 0.000000 0.000000 2 0 0 0 0 0 2 0 0 273 21 5 3 0 0 204 29 11 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 0.000 0.205 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.0042 0.0086 . 0.013 0.001 . . . . . 0.5405405 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||CRTC2|mRNA|CODING|NM_181715|) . . . . . . . 0.1185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.53 0.31 182 ENSG00000160741 CRTC2 CRTC2 . . . . . . 934 0.0143745 64976 913 0.0152202 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115199989 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv872450 . . . . . . . . . . . . . . . 0.0024 0.0090 0.0060 0.0099 0 0.0083 0.0139 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs115199989 rs115199989 1 1538 10 1/0 0,255,255 +. 1 154242881 A C - UBAP2L 29877 Ubiquitin associated protein 2-like NM_014847.3 1 3989 3264 NP_055662.3 Q14157 substitution 3'UTR GRCh37 154242881 154242881 Chr1(GRCh37):g.154242881A>C *110 *110 NM_014847.3:c.*110A>C p.? p.? 27 616472 206 3' 83.6454 X.43 0.959822 XII.91 83.6454 X.43 0.959822 XII.91 0 Cryptic Acceptor Strongly Activated 154242889 8.50261 0.044956 70.5001 9.52732 0.477338 71.2148 0.001501 0.001695 0.000000 0.000000 0.000652 0.000000 0.000964 0.004264 0.002427 0.004264 41 13 0 0 1 0 13 12 2 27314 7668 718 276 1534 0 13480 2814 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 13 0 0 1 0 13 12 2 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion A C A>C 1.000 1.093 212 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.1145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000143569 UBAP2L UBAP2L . . NM_014847:c.*110A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IX.26 . ENST00000456955 III.96 II.79 . 0.000000 . . . Name\x3dnsv521887 . . . . . II.79 . . . . . . . . . 0.0017 0.0015 0 0 0.0007 0.0043 0.0010 0.0024 . . . . 0.822 0.822000 . . 0.000000 . . 1.0E-212 . . . . . . . . . 0.822 . . . . . . 1 1538 10 1/0 0,255,255 +rs151023747 1 154709623 G A - KCNN3 6292 Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 NM_001204087.1 -1 13069 2241 NP_001191016.1 substitution intron GRCh37 154709623 154709623 Chr1(GRCh37):g.154709623G>A 1449-59 1449-59 NM_001204087.1:c.1449-59C>T p.? p.? 4 3 602983 -59 3' 79.3294 10.1893 0.844341 9.14858 79.3294 10.1893 0.844341 8.88193 0 rs151023747 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.009337 0.001152 0.004773 0.000000 0.000000 0.000000 0.011424 0.027027 0.009240 0.027027 288 10 4 0 0 0 171 94 9 30846 8680 838 300 1608 0 14968 3478 974 0.010417 0.000000 0.000000 0.000000 0.000000 0.000000 0.005848 0.021277 0.000000 3 0 0 0 0 0 1 2 0 282 10 4 0 0 0 169 90 9 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transition C T C>T 1.000 2.304 255 PASS . 0.0027 . . 0.01 . 0.0014 . . 0.007 . . . . . . 0.5714286 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . I.55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.61 0.48 182 ENSG00000143603 KCNN3 KCNN3 . . . . . . 668 0.0102807 64976 659 0.0109859 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151023747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.72 . . . . . . . . . 0.0012 0.0093 0.0048 0 0 0.0270 0.0114 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151023747 rs151023747 1 1538 10 1/0 0,255,255 +rs774893297 1 155188182 T C - GBAP1 4178 Glucosidase, beta, acid pseudogene 1 NR_002188.2 -1 2036 0 substitution exon GRCh37 155188182 155188182 Chr1(GRCh37):g.155188182T>C 337 337 NR_002188.2:n.337A>G 3 -4 5' 70.4128 6.51426 0.803332 1.42876 70.4128 6.51426 0.334702 0 -0.194453 New Donor Site 155188183 X.36 0.995591 95.6376 rs774893297 yes no Frequency 1 C 0.000000 0 0.000022 0.000042 0.000000 0.000099 0.000000 0.000033 0.000016 0.000000 0.000155 0.000099 6 1 0 1 0 1 2 0 1 276174 24002 34418 10148 18860 30764 126400 25128 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 1 0 1 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.787 1.093 255 PASS . . . . . . . . . . . . GBAP1:uc001fjd.3:exon2:c.A116G:p.D39G . . . 0.45930234 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 172.0 . . . . . . . . . . 0.7825 . . . . . . . . 7.892e-05 . . . 0 8.826e-05 8.646e-05 0 0 0 0 0.0004 0 8.474e-05 8.916e-05 0.0001 0 0 0 0.0004 . nonsynonymous_SNV . . . . ncRNA_exonic\x3bsplicing exonic ncRNA_exonic . . . @ . . . . . . ENSG00000160766\x3bENSG00000160766 GBAP1 GBAP1 ENST00000566701:exon2:c.115+1A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.79 0 2.039e-05 0 0.0001 0 0 1.795e-05 0.0002 3.251e-05 0.0001 3.233e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +rs634510 1 155631266 T C - YY1AP1 30935 YY1 associated protein 1 NM_001198903.1 -1 3074 2667 NP_001185832.1 substitution intron GRCh37 155631266 155631266 Chr1(GRCh37):g.155631266T>C 1294-52 1294-52 NM_001198903.1:c.1294-52A>G p.? p.? 9 8 607860 -52 3' 80.3706 5.71526 0.049421 2.40514 80.3706 5.71526 0.049421 II.43 0 rs634510 yes no Frequency 1 C 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245902 15290 33578 9850 17244 30776 111384 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 94 Exomes transition A G A>G 0.000 -0.602 191 PASS . . . . . . . . . . . . . . . . 0.14 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.1013 . . . . . . . . 1.578e-05 . . . 0 1.102e-05 0 0 0 0 0 6.061e-05 0 9.419e-06 0 0 0 0 0 6.095e-05 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.65 0.14 182 ENSG00000203761 YY1AP1 YY1AP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs634510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.133e-06 0 0 0 0 1.796e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs634510 rs634510 rs634510 rs634510 1 1538 10 1/0 0,255,255 +. 1 155650346 G A - YY1AP1 30935 YY1 associated protein 1 NM_001198903.1 -1 3074 2667 NP_001185832.1 substitution intron GRCh37 155650346 155650346 Chr1(GRCh37):g.155650346G>A 395-99 395-99 NM_001198903.1:c.395-99C>T p.? p.? 2 1 607860 -99 3' 90.4519 7.92397 0.736885 5.49932 90.4519 7.92397 0.736885 5.49932 0 rs1042565866 yes no Frequency 1 G 0.000000 0 0.001033 0.000000 0.000000 0.003311 0.000000 0.000000 0.001732 0.001145 0.001018 0.003311 32 0 0 1 0 0 26 4 1 30982 8734 838 302 1620 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 0 0 1 0 0 26 4 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.008 0.286 255 PASS . . . . . . . . . . . . . . . . 0.6216216 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.0505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000203761 YY1AP1 YY1AP1 . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0010 0 0.0033 0 0.0011 0.0017 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199983831 1 156553142 G C - TTC24 32348 Tetratricopeptide repeat domain 24 NM_001105669.3 1 2927 1749 NP_001099139.2 A2A3L6 substitution missense exon GRCh37 156553142 156553142 Chr1(GRCh37):g.156553142G>C 1052 1052 NM_001105669.3:c.1052G>C p.Gly351Ala p.Gly351Ala 4 13 3' 92.9684 8.30115 0.960761 6.1843 92.9684 8.30115 0.952881 6.05221 -0.00273394 Tetratricopeptide repeat-containing domain rs199983831 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.007000 0.001400 0.005367 0.000042 0.000058 0.001093 0.000000 0.000000 0.003523 0.037878 0.007479 0.037878 1480 1 2 11 0 0 444 974 48 275772 23868 34198 10060 18804 30680 126030 25714 6418 0.000087 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000933 0.000000 12 0 0 0 0 0 0 12 0 1456 1 2 11 0 0 444 950 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8293 3970 12263 17 0 17 0.00204573 0 0.00138436 0.00204573 0 0.00138436 28 transversion G C G>C 1.000 3.757 G Gly GGA 0.246 A Ala GCA 0.226 351 12 12 Dolphin 0 0 0 0.74 0 9 8.I 3 31 60 C55 0.00 60.00 Deleterious 0 III.93 255 PASS . . . . . . 0.0016 0.0014 . 0.007 . . TTC24:uc021pbf.1:exon5:c.G1052C:p.G351A TTC24:NM_001105669:exon5:c.G1052C:p.G351A . . 0.46666667 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.593 . @ . . . . . 1 0.859 . . 75.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gCa|G351A|TTC24|mRNA|CODING|NM_001105669|NM_001105669.ex.5) . 0.0014 0.002 . 0.0014 0.002 . 0.5843 0.617 0.584 c . . . . . 4.607e-03 . . . 0 0.0030 0.0003 0 0.0403 0.0027 0.0045 0 0 0.0042 0.0002 0 0.0377 0.0035 0.0123 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.937 . . exonic exonic exonic . . 0.691 0.0016 . . . 0.32 0.56 182 ENSG00000187862 TTC24 TTC24 . . . 1.000 0.747 . 284 0.00437084 64976 276 0.00460107 59986 Uncertain_significance . 0 . 0.266 . . . . . . . . . 37 . 0.920 . . 0.926 . . . 0.334 0.469 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.726 . . 0 0 0 0 0 0 . 0.528 . . 0.566 . . . . . . 0 0.237 . . . . . 0.870 . 0.681 . HET 0.14 rs199983831 . . . . . . . . . . . . 17.282 0.0 . 5.XI 5.XI . 0.040000 A2A3L6 . . Name\x3dnsv523181 0.001384 . 0.727 . . 5.XI 0 0.0048 5.995e-05 0.0010 0 0.0374 0.0027 0.0061 0 0.0001 0.0098 0 0.0033 0 0.0408 0.0096 0.0153 . . 0.283 . 2.671 2.671000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.604 1.000 . 0.757 . 0.713 2.671 0.917 0.002 . . rs199983831 rs199983831 1 1538 10 1/0 0,255,255 +rs558977082 1 156785953 C A - NTRK1 8031 Neurotrophic tyrosine kinase, receptor, type 1 NM_002529.3 1 2655 2391 NP_002520.2 P04629 substitution upstream GRCh37 156785953 156785953 Chr1(GRCh37):g.156785953C>A -44774 -44774 NM_002529.3:c.-44774C>A p.? p.? 1 191315 -44986 5' 71.0537 7.38896 0.83501 X.69 71.0537 7.38896 0.83501 X.69 0 rs558977082 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000388 0.000115 0.000000 0.000000 0.000000 0.000000 0.000735 0.000000 0.000000 0.000735 12 1 0 0 0 0 11 0 0 30930 8718 838 302 1622 0 14976 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 1 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion C A C>A 0.000 0.125 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.56179774 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 0.0628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 20 0.000307806 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558977082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs558977082 1 156785953 C A - SH2D2A 10821 SH2 domain containing 2A NM_001161441.1 -1 1674 1200 NP_001154913.1 substitution intron GRCh37 156785953 156785953 Chr1(GRCh37):g.156785953C>A 35-67 35-67 NM_001161441.1:c.35-67G>T p.? p.? 2 1 604514 -67 3' 91.2312 8.59785 0.97532 7.90305 91.2312 8.59785 0.97532 7.39578 0 rs558977082 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000388 0.000115 0.000000 0.000000 0.000000 0.000000 0.000735 0.000000 0.000000 0.000735 12 1 0 0 0 0 11 0 0 30930 8718 838 302 1622 0 14976 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 1 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion G T G>T 0.000 0.125 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.56179774 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 0.0628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 20 0.000307806 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558977082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 156914242 TT T - ARHGEF11 14580 Rho guanine nucleotide exchange factor (GEF) 11 NM_198236.2 -1 6889 4689 NP_937879.1 deletion intron GRCh37 156914242 156914242 Chr1(GRCh37):g.156914242del 2992-17 2992-17 NM_198236.2:c.2992-17del p.? p.? 31 30 605708 -17 3' 85.4654 6.69781 0.537081 4.1025 85.4654 6.38996 0.296899 0 -0.164387 Cryptic Donor Strongly Activated 156914241 0.018819 63.9502 2.56719 0.18104 72.4613 T 255 Pass . . . . . . . . . . . . . . . . 0.30508474 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 59 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000132694 ARHGEF11 ARHGEF11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,52 +rs185161099 1 159899462 C A - IGSF9 18132 Immunoglobulin superfamily, member 9 NM_001135050.1 -1 4044 3540 NP_001128522.1 Q9P2J2 substitution missense exon GRCh37 159899462 159899462 Chr1(GRCh37):g.159899462C>A 2292 2292 NM_001135050.1:c.2292G>T p.Arg764Ser p.Arg764Ser 17 609738 -35 5' 99.6933 X.84 0.998767 16.2093 99.6933 X.84 0.998767 16.4176 0 rs185161099 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000800 0.002000 0.000000 0.004000 0.004300 0.004070 0.001341 0.002508 0.000766 0.000000 0.002090 0.006535 0.003136 0.006392 0.006535 951 27 75 7 0 57 685 64 36 233656 20130 29902 9140 16358 27272 104816 20406 5632 0.000017 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000098 0.000000 2 0 0 0 0 1 0 1 0 947 27 75 7 0 55 685 62 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8333 4260 12593 49 6 55 0.00584586 0.00140647 0.00434851 0.00584586 0.00140647 0.00434851 10 transversion G T G>T 1.000 1.174 R Arg AGG 0.207 S Ser AGT 0.149 764 13 10 Frog -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 241.65 21.IV Deleterious 0.01 III.20 bad 2.036E-4 0.0001682 255 PASS . 0.0027 0.01 . 0.004 0.0008 0.002 0.0043 . 0.004 0.002 . . . . . 0.44444445 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.858 . @ . . . . . 1 0.686 . . 108.0 . . . 0.0014 0.0043 0.0058 0.0014 0.0043 0.0058 . 0.0886 0.081 0.089 c . . . . . 3.889e-03 . . . 0.0015 0.0057 0.0050 0 0.0078 0.0093 0.0075 0.0028 0.0014 0.0063 0.0052 0 0.0111 0.0092 0.0037 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.706 . . exonic exonic exonic . . 0.360 0.0020 . . . 0.5 0.6 182 ENSG00000085552 IGSF9 IGSF9 . . . 1.000 0.747 . 228 0.00350899 64976 219 0.00365085 59986 Uncertain_significance . 0 . 0.412 . . . . . . . . . 37 . 0.487 . . 0.485 . . . 0.700 0.328 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.453 . . 0.413 . . . . . . 0 0.721 . . . . . 0.240 . 0.588 . HET . rs185161099 . . . . . . . 0.0027472527472527475 0.0 0.008287292817679558 0.0 0.00395778364116095 7.0317 0.001392 . IV.16 III.23 . . Q9P2J2 . . . 0.004349 . 0.367 . . III.23 0.0014 0.0041 0.0025 0.0008 0 0.0027 0.0066 0.0064 0.0021 0.0013 0.0040 0.0024 0 0 0.0052 0.0059 0.0061 . . 0.997 . 0.922 0.922000 . . . . . 1.0E-255 0.637 0.278 . 0.517 0.858 . 0.132 . 0.314 0.922 0.871 0.01 . . rs185161099 rs185161099 1 1538 10 1/0 0,251,255 +rs538950019 1 161309247 A G - SDHC 10682 Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa NM_003001.3 1 2858 510 NP_002992.1 Q99643 substitution intron GRCh37 161309247 161309247 Chr1(GRCh37):g.161309247A>G 180-1137 180-1137 NM_003001.3:c.180-1137A>G p.? p.? 4 3 602413 -1137 3' 90.7011 XI.11 0.985868 8.75738 90.7011 XI.11 0.985868 8.75738 0 rs538950019 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000621 0.002183 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002183 19 19 0 0 0 0 0 0 0 30586 8702 832 302 1620 0 14834 3336 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 19 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition A G A>G 0.614 0.367 255 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.64285713 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . 0.0387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000143252 SDHC SDHC . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs538950019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0006 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 161483783 CA C - FCGR2A 3616 Fc fragment of IgG, low affinity IIa, receptor (CD32) NM_001136219.1 1 2429 954 NP_001129691.1 P12318 deletion intron GRCh37 161483784 161483784 Chr1(GRCh37):g.161483784del 780+62 780+62 NM_001136219.1:c.780+62del p.? p.? 6 6 146790 62 5' 92.583 10.0326 0.996004 8.37436 92.583 10.0326 0.996004 7.76351 0 rs11314582 no no 0 T 0.000000 0 0.004284 0.011875 0.003606 0.003356 0.000000 0.000000 0.001424 0.000290 0.002066 0.011875 131 103 3 1 0 0 21 1 2 30578 8674 832 298 1618 0 14744 3444 968 0.007634 0.009709 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 129 101 3 1 0 0 21 1 2 0 0 0 0 0 0 0 0 0 RF 43 Genomes 8248 4247 12495 4 19 23 0.000484731 0.00445382 0.00183735 0.000484731 0.00445382 0.00183735 198 A 255 Pass . . . . . . . . . . . . . . . . 0.13592233 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 103 . . . . . . 0.0045 0.0018 0.0005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000273112 FCGR2A FCGR2A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs11314582 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0119 0.0043 0.0036 0.0034 0 0.0003 0.0014 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs11314582 rs11314582 rs11314582 rs11314582 1 1538 10 1.I 0,5,87 +rs12092315 1 161483822 G A - FCGR2A 3616 Fc fragment of IgG, low affinity IIa, receptor (CD32) NM_001136219.1 1 2429 954 NP_001129691.1 P12318 substitution intron GRCh37 161483822 161483822 Chr1(GRCh37):g.161483822G>A 780+100 780+100 NM_001136219.1:c.780+100G>A p.? p.? 6 6 146790 100 5' 92.583 10.0326 0.996004 8.37436 92.583 10.0326 0.996004 8.37436 0 rs12092315 no no 0 G 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000135 2 0 0 0 0 0 2 0 0 30688 8664 832 300 1610 0 14830 3476 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition G A G>A 0.106 -0.198 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.1693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.33 0.19 182 ENSG00000273112 FCGR2A FCGR2A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs12092315 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.517e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs12092315 rs12092315 rs12092315 rs12092315 1 1538 10 1.I 0,0,0 +rs373611 1 161483856 A G - FCGR2A 3616 Fc fragment of IgG, low affinity IIa, receptor (CD32) NM_001136219.1 1 2429 954 NP_001129691.1 P12318 substitution intron GRCh37 161483856 161483856 Chr1(GRCh37):g.161483856A>G 780+134 780+134 NM_001136219.1:c.780+134A>G p.? p.? 6 6 146790 134 5' 92.583 10.0326 0.996004 8.37436 92.583 10.0326 0.996004 8.37436 0 rs373611 yes no Frequency 1 A 0.000000 0 0.002545 0.001976 0.006083 0.003425 0.005597 0.000000 0.002335 0.002343 0.003132 0.006083 77 17 5 1 9 0 34 8 3 30258 8602 822 292 1608 0 14562 3414 958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 17 5 1 9 0 34 8 3 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition A G A>G 0.016 0.528 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -0.1750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.29 0.15 182 ENSG00000273112 FCGR2A FCGR2A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs373611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0025 0.0061 0.0034 0.0056 0.0023 0.0023 0.0031 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs373611 rs373611 rs373611 rs373611 1 1538 10 1/0 0,253,255 +rs752495693 1 161494595 C G - HSPA6 5239 Heat shock 70kDa protein 6 (HSP70B') NM_002155.4 1 2358 1932 NP_002146.2 P17066 substitution synonymous exon GRCh37 161494595 161494595 Chr1(GRCh37):g.161494595C>G 147 147 NM_002155.4:c.147C>G p.Thr49= p.Thr49Thr 1 140555 Heat shock protein 70 rs752495693 yes no Frequency 1 0.000000 0 0.000929 0.000908 0.000715 0.000000 0.000819 0.000761 0.000882 0.002242 0.000947 0.002242 194 16 20 0 12 20 79 42 5 208882 17630 27978 8754 14648 26274 89590 18730 5278 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000022 0.000000 0.000000 1 0 0 0 0 0 1 0 0 192 16 20 0 12 20 77 42 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM2087207 Haematopoietic and lymphoid tissue 0.000567 3530 transversion C G C>G 0.961 -0.440 T Thr ACC 0.361 T Thr ACG 0.116 49 247 PASS . . . . . . . . . . . ENSG00000173110:ENST00000309758:exon1:c.C147G:p.T49T HSPA6:uc001gaq.3:exon1:c.C147G:p.T49T HSPA6:NM_002155:exon1:c.C147G:p.T49T . . 0.2955975 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acG|T49|HSPA6|mRNA|CODING|NM_002155|NM_002155.ex.1) . . . . . . . 0.2525 . . . . . . . . 8.233e-04 . . . 0.0033 0.0033 0.0097 0.0055 0.0045 0.0038 0 0.0018 0.0037 0.0040 0.0106 0.0055 0.0031 0.0055 0 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.39 182 ENSG00000173110 HSPA6 HSPA6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs752495693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0009 0.0007 0 0.0008 0.0019 0.0009 0.0009 0.0008 0.0011 0.0013 0 0 0.0006 0.0037 0.0010 0.0010 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . rs3754052 rs3754052 rs3754052 rs3754052 1 1538 10 1/0 0,194,252 +rs145615591 1 161551473 C A - FCGR2C 15626 Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) NM_201563.5 1 2488 972 NP_963857.3 P31995 substitution intron GRCh37 161551473 161551473 Chr1(GRCh37):g.161551473C>A 112+134 112+134 NM_201563.5:c.112+134C>A p.? p.? 1 1 612169 134 5' 82.5488 8.73118 0.991448 8.81695 82.5488 8.73118 0.991448 8.81695 0 rs145615591 no no 0 0.000000 0 transversion C A C>A 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . 0.2641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.37 0.34 182 ENSG00000273112 FCGR2C FCGR2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145615591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1459475 rs1459475 rs1459475 rs145615591 1 1538 10 1/0 0,255,255 +rs144725145 1 161558265 C T - FCGR2C 15626 Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) NM_201563.5 1 2488 972 NP_963857.3 P31995 substitution intron GRCh37 161558265 161558265 Chr1(GRCh37):g.161558265C>T 133+33 133+33 NM_201563.5:c.133+33C>T p.? p.? 2 2 612169 33 5' 91.4889 X.58 0.994754 10.0723 91.4889 X.58 0.994754 10.0068 0 rs144725145 no no 0 0.000000 0 0.000564 0.000000 0.000644 0.000000 0.000000 0.000000 0.000000 0.000000 0.007353 0.000644 2 0 1 0 0 0 0 0 1 3544 18 1554 12 292 1244 278 10 136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 132 Exomes transition C T C>T 0.000 0.044 213 PASS . . . . . . . . . . . . . . . . 0.1954023 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.0837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.46 0.31 182 ENSG00000273112 FCGR2C FCGR2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144725145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0006 0 0 0 0 0.0074 0 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs922087 rs922087 rs922087 rs144725145 1 1538 10 1/0 0,241,255 +. 1 161577761 C G - HSPA7 5240 Heat shock 70kDa protein 7 (HSP70B) NR_024151.1 1 2493 0 substitution exon GRCh37 161577761 161577761 Chr1(GRCh37):g.161577761C>G 1913 1913 NR_024151.1:n.1913C>G 1 140556 0.000066 0.000237 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000237 2 2 0 0 0 0 0 0 0 30478 8442 828 300 1590 0 14878 3478 962 0.500000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C G C>G 1.000 1.013 187 PASS . . . . . . . . . . . . . . . . 0.12878788 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 132.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T638R|HSPA7|Non-coding_transcript|NON_CODING|NR_024151|NR_024151.ex.1) . . . . . . . 0.4536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000225217 HSPA7 HSPA7 . uc010pkp.1:c.*577C>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.562e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +. 1 161577789 G A - HSPA7 5240 Heat shock 70kDa protein 7 (HSP70B) NR_024151.1 1 2493 0 substitution exon GRCh37 161577789 161577789 Chr1(GRCh37):g.161577789G>A 1941 1941 NR_024151.1:n.1941G>A 1 140556 0.000098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000201 0.000000 0.000000 0.000201 3 0 0 0 0 0 3 0 0 30530 8462 832 300 1600 0 14896 3478 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition G A G>A 0.976 0.448 202 PASS . . . . . . . . . . . . . . . . 0.1641791 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K647|HSPA7|Non-coding_transcript|NON_CODING|NR_024151|NR_024151.ex.1) . . . . . . . 0.5980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000225217 HSPA7 HSPA7 . uc010pkp.1:c.*605G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.826e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs2298020 1 161640108 C T - FCGR2B 3618 Fc fragment of IgG, low affinity IIb, receptor (CD32) NM_004001.4 1 2161 933 NP_003992.3 P31994 substitution intron GRCh37 161640108 161640108 Chr1(GRCh37):g.161640108C>T 133+46 133+46 NM_004001.4:c.133+46C>T p.? p.? 2 2 604590 46 5' 91.4889 X.58 0.994754 10.0723 91.4889 X.58 0.994754 9.89239 0 rs2298020 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 0 14 0 2 8 2 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4276 Exomes transition C T C>T 0.000 -0.198 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . -0.0893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.3 182 ENSG00000072694 FCGR2B FCGR2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2298020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs2298020 rs2298020 rs2298020 rs2298020 1 1538 10 1/0 0,248,255 +rs542297456 (chr1:162787229 T/C) 1 162787229 T C Not on a known gene +rs145104339 1 165721418 C T - TMCO1 18188 Transmembrane and coiled-coil domains 1 NM_019026.4 -1 4470 720 NP_061899.2 substitution intron GRCh37 165721418 165721418 Chr1(GRCh37):g.165721418C>T 409-12 409-12 NM_019026.4:c.409-12G>A p.? p.? 5 4 614123 -12 3' 90.945 IX.02 0.93087 6.72274 90.945 8.80779 0.926276 6.71111 -0.0213177 rs145104339 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000800 0.000000 0.001000 0.005000 0.004300 0.005349 0.001512 0.002447 0.000296 0.001274 0.004110 0.008712 0.002831 0.004842 0.008712 1475 36 84 3 24 126 1099 72 31 275752 23810 34328 10138 18838 30656 126144 25436 6402 0.000051 0.000000 0.000000 0.000000 0.000000 0.000065 0.000095 0.000000 0.000000 7 0 0 0 0 1 6 0 0 1461 36 84 3 24 124 1087 72 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8518 4403 12921 80 3 83 0.00930449 0.00068089 0.00638265 0.00930449 0.00068089 0.00638265 81 transition G A G>A 0.000 -0.440 255 PASS . 0.0041 0.01 0.0017 0.01 0.0008 0.002 0.0043 0.001 0.005 . . . . . . 0.4878049 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0007 0.0064 0.0093 0.0007 0.0064 0.0093 . 0.1519 . . . . . . . . 5.407e-03 . . . 0.0014 0.0054 0.0030 0.0004 0.0034 0.0084 0.0029 0.0045 0.0013 0.0052 0.0029 0.0010 0.0034 0.0074 0.0030 0.0045 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.37 0.27 182 ENSG00000143183 TMCO1 TMCO1 . . . . . . 374 0.00575597 64976 364 0.00606808 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145104339 0.011 0.007 . . . . . . . . . . . . . . . . . . 0 0 Name\x3dnsv518886 0.006383 . . . . . 0.0012 0.0053 0.0024 0.0003 0.0013 0.0030 0.0086 0.0044 0.0041 0.0020 0.0058 0.0026 0 0.0012 0.0019 0.0095 0.0074 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs145104339 rs145104339 1 1538 10 1/0 0,255,255 +rs144001430 1 169679710 T C - SELL 10720 Selectin L NM_000655.4 -1 2442 1158 NP_000646.2 substitution intron GRCh37 169679710 169679710 Chr1(GRCh37):g.169679710T>C 43-52 43-52 NM_000655.4:c.43-52A>G p.? p.? 2 1 153240 -52 3' 92.6888 X.18 0.941551 9.20584 92.6888 X.18 0.941551 9.36868 0 New Donor Site 169679711 0.326272 0.179566 69.1999 rs144001430 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000518 0.000344 0.001196 0.000000 0.000000 0.000000 0.000734 0.000000 0.001020 0.001196 16 3 1 0 0 0 11 0 1 30902 8718 836 302 1588 0 14984 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 1 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes 4158 1865 6023 0 1 1 0 0.000535906 0.000166003 0 0.000535906 0.000166003 46 transition A G A>G 0.000 0.125 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.33333334 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . 0.0005 0.0002 . 0.0005 0.0002 . . 0.1969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.46 0.3 182 ENSG00000188404 SELL SELL . . . . . . 39 0.000600222 64976 38 0.000633481 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144001430 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv872541 0.000166 . . . . . . . . . . . . . . 0.0003 0.0005 0.0012 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs144001430 rs144001430 1 1538 10 1/0 0,255,255 +rs145307638 1 172520720 A G - SUCO 1240 SUN domain containing ossification factor NM_016227.3 1 5916 4218 NP_057311.3 substitution missense exon GRCh37 172520720 172520720 Chr1(GRCh37):g.172520720A>G 716 716 NM_016227.3:c.716A>G p.Asp239Gly p.Asp239Gly 3 -47 5' 71.8497 V.18 0.602323 0 71.8497 V.18 0.602323 0 0 Cryptic Acceptor Strongly Activated 172520720 3.91556 0.468592 75.4341 6.07208 0.820196 79.345 rs145307638 yes no Frequency 1 A 0.000000 0 0.000441 0.000000 0.000060 0.000198 0.000000 0.000000 0.000685 0.001126 0.000315 0.001126 121 0 2 2 0 0 86 29 2 274186 23808 33610 10100 18722 30370 125478 25754 6344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 0 2 2 0 0 86 29 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 93 transition A G A>G 1.000 2.788 D Asp GAT 0.461 G Gly GGT 0.162 239 14 8 Cow -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.06 IV.32 255 PASS . . . . . . . . . . . . . . . . 0.41379312 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.512 . @ . . . . . 1 0.708 . . 29.0 . . . . 0.0008 0.0012 . 0.0008 0.0012 . 0.0907 0.223 0.091 c . . . . . 5.051e-04 . . . 0 0.0003 0 0 0.0008 0.0006 0 0 0 0.0004 0 0 0.0008 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.914 @ . . . 0.5 0.39 182 ENSG00000094975 SUCO SUCO . . . 1.000 0.747 . 25 0.000384757 64976 25 0.000416764 59986 Uncertain_significance . 0 . 0.277 . . . . T 0.045 0.002 . . 37 . 0.257 . . 0.264 . . . 0.510 0.386 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.234 . . 0 0 0 0 0 0 . 0.429 . . 0.349 . . . . . . 0 0.632 . . . . . 0.551 . 0.489 . HET 0 rs145307638 . . . . . . . . . . . . XII.61 0.0 . V.78 V.78 . 0.040000 . . . . 0.000769 . 0.399 . . V.78 0 0.0004 6.103e-05 0.0002 0 0.0010 0.0007 0.0004 0 0 0.0006 0 0 0 0.0020 0.0008 0 . . 0.609 . 2.198 2.198000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.432 . 0.893 2.198 1.062 0.0012 . . rs145307638 rs145307638 1 1538 10 1/0 0,255,255 +rs3208835 1 175129955 G T - KIAA0040 28950 KIAA0040 NM_001162893.1 -1 4721 300 NP_001156365.1 substitution missense exon GRCh37 175129955 175129955 Chr1(GRCh37):g.175129955G>T 195 195 NM_001162893.1:c.195C>A p.Asn65Lys p.Asn65Lys 5 616696 328 3' 93.8602 X.34 0.968123 7.54607 93.8602 X.34 0.968123 7.54607 0 rs3208835 yes no Frequency/1000G 2 G 0.000000 0 0.000662 0.000130 0.000086 0.000240 0.000088 0.000137 0.001130 0.001222 0.000882 0.001222 113 2 2 2 1 3 77 22 4 170818 15398 23182 8332 11388 21844 68142 17998 4534 0.000035 0.000000 0.000000 0.000000 0.000000 0.000000 0.000059 0.000111 0.000000 3 0 0 0 0 0 2 1 0 107 2 2 2 1 3 73 20 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.205 1.820 N Asn AAC 0.536 K Lys AAA 0.425 65 11 10 Chicken 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C25 46.24 93.76 Deleterious 0.02 III.82 255 PASS . . . . . . . . . . . . . . . . 0.36585367 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.371 . @ . . . . . 1 0.152 . . 41.0 . . . . . . . . . . 0.8517 -0.033 0.852 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.416 @ . . . 0.53 0.39 182 ENSG00000235750 KIAA0040 KIAA0040 . . . 0.739 0.232 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.658 0.054 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.353 . 0.234 . HET . rs3208835 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522101 . . 0.346 . . III.71 0 0.0007 8.945e-05 0.0001 0.0001 0.0015 0.0012 0.0003 0.0001 0.0002 0.0007 0 0.0034 0 0 0.0010 0.0031 . . 0.428 . . . . . . . . 1.0E-255 1.000 0.715 . 0.249 0.841 . 0.415 . 0.219 . -0.011 . rs3208835 rs3208835 rs3208835 rs3208835 1 1538 10 1/0 0,255,255 +rs138449532 1 177917587 G A - CRYZL2P-SEC16B 53757 CRYZL2P-SEC16B readthrough NM_001356505.1 -1 5302 3186 NP_001343434.1 substitution intron GRCh37 177917587 177917587 Chr1(GRCh37):g.177917587G>A 1546-510 1546-510 NM_001356505.1:c.1546-510C>T p.? p.? 21 20 -510 3' 81.4893 10.0963 0.979249 8.66445 81.4893 10.0963 0.979249 8.66445 0 Cryptic Acceptor Weakly Activated 177917578 II.15 0.006325 69.2682 2.26241 0.016039 71.98 rs138449532 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.007200 0.001000 0.008000 0.000000 0.005288 0.001051 0.004254 0.005356 0.000085 0.006816 0.006897 0.004914 0.008628 0.006897 923 16 105 45 1 154 462 99 41 174536 15224 24684 8402 11744 22594 66988 20148 4752 0.000069 0.000000 0.000000 0.000000 0.000000 0.000266 0.000060 0.000099 0.000000 6 0 0 0 0 3 2 1 0 911 16 105 45 1 148 458 97 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.851 255 PASS . 0.0032 . . 0.01 . 0.0032 . 0.001 0.008 0.0072 . SEC16B:uc009wwy.1:exon1:c.C148T:p.P50S . . . 0.5277778 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||SEC16B|mRNA|CODING|NM_033127|) . . . . . . . 0.6026 . . . . . . . . 5.721e-03 . . . 0.0011 0.0069 0 0 0.0333 0.0081 0 0.0074 0 0.0067 0 0 0.0080 0.0069 0 0.0073 . nonsynonymous_SNV . . . . ncRNA_intronic exonic intronic . . . 0.0032 . . . 0.42 0.33 182 ENSG00000254154 SEC16B SEC16B . . . . . . 301 0.00463248 64976 286 0.00476778 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs138449532 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . II.25 0.0014 0.0053 0.0042 0.0053 9.879e-05 0.0049 0.0067 0.0080 0.0068 0.0008 0.0050 0.0048 0.0066 0 0.0049 0.0077 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138449532 rs138449532 1 1538 10 1/0 0,255,255 +rs138449532 1 177917587 G A - SEC16B 30301 SEC16 homolog B, endoplasmic reticulum export factor NM_033127.3 -1 4350 3183 NP_149118.2 Q96JE7 substitution intron GRCh37 177917587 177917587 Chr1(GRCh37):g.177917587G>A 1546-510 1546-510 NM_033127.3:c.1546-510C>T p.? p.? 13 12 612855 -510 3' 81.4893 10.0963 0.979249 8.66445 81.4893 10.0963 0.979249 8.66445 0 Cryptic Acceptor Weakly Activated 177917578 II.15 0.006325 69.2682 2.26241 0.016039 71.98 rs138449532 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.007200 0.001000 0.008000 0.000000 0.005288 0.001051 0.004254 0.005356 0.000085 0.006816 0.006897 0.004914 0.008628 0.006897 923 16 105 45 1 154 462 99 41 174536 15224 24684 8402 11744 22594 66988 20148 4752 0.000069 0.000000 0.000000 0.000000 0.000000 0.000266 0.000060 0.000099 0.000000 6 0 0 0 0 3 2 1 0 911 16 105 45 1 148 458 97 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.851 255 PASS . 0.0032 . . 0.01 . 0.0032 . 0.001 0.008 0.0072 . SEC16B:uc009wwy.1:exon1:c.C148T:p.P50S . . . 0.5277778 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||SEC16B|mRNA|CODING|NM_033127|) . . . . . . . 0.6026 . . . . . . . . 5.721e-03 . . . 0.0011 0.0069 0 0 0.0333 0.0081 0 0.0074 0 0.0067 0 0 0.0080 0.0069 0 0.0073 . nonsynonymous_SNV . . . . ncRNA_intronic exonic intronic . . . 0.0032 . . . 0.42 0.33 182 ENSG00000254154 SEC16B SEC16B . . . . . . 301 0.00463248 64976 286 0.00476778 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs138449532 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . II.25 0.0014 0.0053 0.0042 0.0053 9.879e-05 0.0049 0.0067 0.0080 0.0068 0.0008 0.0050 0.0048 0.0066 0 0.0049 0.0077 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138449532 rs138449532 1 1538 10 1/0 0,255,255 +rs35619308 1 178490387 A G - TEX35 25366 Testis expressed 35 NM_032126.4 1 1028 702 NP_115502.2 Q5T0J7 substitution missense exon GRCh37 178490387 178490387 Chr1(GRCh37):g.178490387A>G 574 574 NM_032126.4:c.574A>G p.Asn192Asp p.Asn192Asp 8 -13 5' 77.9039 6.58677 0.959688 0 77.9039 6.58677 0.959688 0.644004 0 rs35619308 yes no Frequency/1000G 2 A 0.000000 0 0.000998 0.000000 0.003100 0.000000 0.002000 0.000000 0.002893 0.000291 0.003515 0.017734 0.000106 0.002469 0.002849 0.000659 0.005877 0.017734 802 7 121 180 2 76 361 17 38 277212 24028 34420 10150 18870 30782 126702 25794 6466 0.000036 0.000000 0.000058 0.000591 0.000000 0.000065 0.000000 0.000000 0.000000 5 0 1 3 0 1 0 0 0 792 7 119 174 2 74 361 17 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4406 12981 25 0 25 0.00290698 0 0.00192219 0.00290698 0 0.00192219 235 transition A G A>G 0.126 0.205 N Asn AAC 0.536 D Asp GAC 0.539 192 11 10 Megabat 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 64.77 23.I Tolerated 0.05 III.70 bad 7.677E-5 0.000266 255 PASS . 0.0009 . . 0.0026 . 0.001 . . 0.002 0.0031 . . . . . 0.5294118 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.637 . @ . . . . . 1 0.171 . . 102.0 . . . . 0.0019 0.0029 . 0.0019 0.0029 . -0.0685 -0.093 -0.069 c . . . . . 2.849e-03 . . . 0.0002 0.0034 0.0052 0.0002 0.0003 0.0047 0.0084 0.0023 0 0.0029 0.0052 0 0.0003 0.0037 0.0130 0.0023 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.192 . . exonic exonic exonic . . 0.197 0.0010 . . . 0.26 0.71 182 ENSG00000240021 TEX35 TEX35 . . . 0.139 0.172 . 231 0.00355516 64976 226 0.00376755 59986 Likely_benign . 0 . 0.272 . . . . D 0.562 0.035 . . 37 . 0.387 . . 0.370 . . . 0.225 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.655 . . 0 0 0 0 0 0 . 0.364 . . 0.335 . . . . . . 0 0.531 . . . . . 0.150 . 0.140 . HET 0.03 rs35619308 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 V.11 0.0 ENST00000442872 IV.96 I.13 . 0.000000 . . . . 0.001922 . 0.244 . . . 6.534e-05 0.0030 0.0035 0.0175 5.798e-05 0.0007 0.0029 0.0067 0.0025 0.0007 0.0017 0.0024 0.0265 0.0006 0.0003 0.0023 0.0010 . . 0.133 . 0.817 0.817000 . . 0.020000 . . 1.0E-255 0.975 0.345 . 0.512 0.869 . 0.361 . 0.893 0.817 0.042 0.0029 rs35619308 rs35619308 rs35619308 rs35619308 1 1538 10 1/0 0,255,255 +rs187452139 1 178515190 C A - C1orf220 33805 Chromosome 1 open reading frame 220 NR_033186.1 1 2577 0 substitution intron GRCh37 178515190 178515190 Chr1(GRCh37):g.178515190C>A 781+152 781+152 NR_033186.1:n.781+152C>A p.? p.? 2 2 152 5' 94.6711 X.63 0.998151 5.68367 94.6711 X.63 0.998151 5.68367 0 rs187452139 yes no Frequency/1000G 2 C 0.000000 0 0.009185 0.014400 0.012300 0.000000 0.010900 0.005800 0.007876 0.014197 0.015513 0.016556 0.000000 0.000000 0.004797 0.005438 0.011224 0.016556 244 124 13 5 0 0 72 19 11 30980 8734 838 302 1622 0 15010 3494 980 0.008197 0.000000 0.076923 0.000000 0.000000 0.000000 0.000000 0.000000 0.090909 2 0 1 0 0 0 0 0 1 240 124 11 5 0 0 72 19 9 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion C A C>A 0.000 -1.651 251 PASS 0.0041 0.01 0.01 . 0.01 0.014 0.0092 0.0058 . 0.011 0.012 . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||C1orf220|Non-coding_transcript|NON_CODING|NR_033186|) . . . . . . . -0.2856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0092 . . . 0.21 0.21 182 . C1orf220 C1orf220 . . . . . . 382 0.00587909 64976 336 0.00560131 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187452139 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527862 . . . . . . . . . . . . . . . 0.0142 0.0079 0.0155 0.0166 0 0.0054 0.0048 0.0112 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . 0.01 . . rs187452139 rs187452139 1 1538 10 1/0 0,255,255 +rs181895952 1 179033316 C T - FAM20B 23017 Family with sequence similarity 20 member B NM_001324310.1 1 5848 1230 NP_001311239.1 O75063 substitution intron GRCh37 179033316 179033316 Chr1(GRCh37):g.179033316C>T 746+83 746+83 NM_001324310.1:c.746+83C>T p.? p.? 5 5 611063 83 5' 87.8485 8.76378 0.984189 8.25421 87.8485 8.76378 0.984189 8.25421 0 rs181895952 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.011900 0.000000 0.006909 0.001031 0.004773 0.003311 0.000000 0.000000 0.005995 0.028048 0.012220 0.028048 214 9 4 1 0 0 90 98 12 30976 8728 838 302 1620 0 15012 3494 982 0.009346 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.000000 0.000000 2 0 0 0 0 0 2 0 0 210 9 4 1 0 0 86 98 12 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 0.448 255 PASS . 0.0041 . . 0.01 . 0.0024 . . 0.012 . . . . . . 0.42372882 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . INTRON(MODIFIER||||FAM20B|mRNA|CODING|NM_014864|) . . . . . . . 0.4046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.4 0.11 182 ENSG00000116199 FAM20B FAM20B . . . . . . 473 0.00727961 64976 461 0.00768513 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181895952 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv3721 . . . . . . . . . . . . . . . 0.0010 0.0069 0.0048 0.0033 0 0.0280 0.0060 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs181895952 rs181895952 1 1538 10 1/0 0,255,255 +rs150381478 1 179033503 G A - FAM20B 23017 Family with sequence similarity 20 member B NM_001324310.1 1 5848 1230 NP_001311239.1 O75063 substitution synonymous exon GRCh37 179033503 179033503 Chr1(GRCh37):g.179033503G>A 810 810 NM_001324310.1:c.810G>A p.Pro270= p.Pro270Pro 6 611063 64 3' 90.0779 9.58046 0.977762 5.73102 90.0779 9.58046 0.977762 5.46068 0 rs150381478 yes no Frequency 1 G 0.000000 0 0.000047 0.000042 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 0.000095 13 1 0 0 0 0 12 0 0 277092 24028 34416 10150 18870 30780 126602 25784 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 0 0 0 0 12 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 167 transition G A G>A 0.000 -5.444 P Pro CCG 0.115 P Pro CCA 0.274 270 255 PASS . . . . . . . . . . . ENSG00000116199:ENST00000263733:exon6:c.G810A:p.P270P FAM20B:uc001gmc.3:exon6:c.G810A:p.P270P FAM20B:NM_014864:exon6:c.G810A:p.P270P . . 0.4814815 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P270|FAM20B|mRNA|CODING|NM_014864|NM_014864.ex.6) . 0.0001 0.0001 . 0.0001 0.0001 . -0.0734 . . . . . . . . 3.946e-05 . . . 0 4.415e-05 0 0 0 9.512e-05 0 0 0 2.829e-05 0 0 0 5.529e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.19 182 ENSG00000116199 FAM20B FAM20B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150381478 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv3721 0.000077 . . . . . 0 4.469e-05 0 0 0 0 9.858e-05 0 0 0.0001 6.457e-05 0 0 0 0 6.661e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs150381478 rs150381478 1 1538 10 1/0 0,255,255 +rs139352498 1 180044304 A G - CEP350 24238 Centrosomal protein 350kDa NM_014810.4 1 13456 9354 NP_055625.4 Q5VT06 substitution missense exon GRCh37 180044304 180044304 Chr1(GRCh37):g.180044304A>G 5715 5715 NM_014810.4:c.5715A>G p.Ile1905Met p.Ile1905Met 28 -53 5' 81.9717 8.48854 0.874441 0.769712 81.9717 8.48854 0.874441 1.36854 0 rs139352498 yes no Frequency/1000G 2 A 0.000000 0 0.003195 0.000800 0.003100 0.000000 0.008000 0.005800 0.005320 0.001006 0.005047 0.012869 0.000000 0.003701 0.007416 0.001436 0.008696 0.012869 1466 24 173 130 0 113 933 37 56 275552 23864 34276 10102 18762 30536 125812 25760 6440 0.000087 0.000000 0.000175 0.000396 0.000000 0.000000 0.000095 0.000000 0.000311 12 0 3 2 0 0 6 0 1 1442 24 167 126 0 113 921 37 54 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4397 12941 56 9 65 0.00651163 0.00204267 0.00499769 0.00651163 0.00204267 0.00499769 60 transition A G A>G 0.008 -0.602 I Ile ATA 0.163 M Met ATG 1.000 1905 10 7 Lesser hedgehog tenrec 2 1 2 0 0 5.II 5.VII 111 105 10 C0 10.XII 0.00 Tolerated 0.36 IV.32 good 1.738E-1 0.0005558 255 PASS . 0.0032 0.01 . 0.01 0.0008 0.0032 0.0058 . 0.008 0.0031 ENSG00000135837:ENST00000367607:exon28:c.A5715G:p.I1905M . CEP350:NM_014810:exon28:c.A5715G:p.I1905M . . 0.36666667 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.118 . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I1905M|CEP350|mRNA|CODING|NM_014810|NM_014810.ex.28) 0.002 0.005 0.0065 0.002 0.005 0.0065 . -0.4543 -0.380 -0.454 c . . . . . 5.025e-03 . . . 0.0014 0.0062 0.0049 0 0.0006 0.0099 0.0048 0.0041 0.0015 0.0054 0.0050 0 0.0010 0.0077 0.0096 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.517 . . exonic exonic exonic . . 0.100 0.0032 . . . 0.61 0.2 182 ENSG00000135837 CEP350 CEP350 . . . 0.065 0.154 . 396 0.00609456 64976 380 0.00633481 59986 Likely_benign . 0 . 0.263 . . . . T 0.218 0.008 . . 37 . 0.107 . . 0.254 . . . 0.094 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.205 . . 0.127 . . . . . . 0 0.241 . . . . . 0.092 . 0.185 . HET 0.15 rs139352498 . . . . . . . 0.003205128205128205 0.0 0.008287292817679558 0.0 0.005277044854881266 4.0482 0.00214 ENST00000429851 V.81 -0.896 . . . . . . 0.004998 . 0.299 . . . 0.0011 0.0054 0.0051 0.0131 0 0.0014 0.0073 0.0093 0.0037 0.0009 0.0048 0.0012 0.0066 0 0.0014 0.0086 0.0051 . . 0.730 . -0.072 -0.072000 . . . . . 1.0E-255 0.977 0.347 . 0.750 0.955 . 0.175 . 0.251 -0.072 0.126 0.01 . . rs139352498 rs139352498 1 1538 10 1/0 0,255,255 +rs149144883 1 180144375 G A - QSOX1 9756 Quiescin Q6 sulfhydryl oxidase 1 NM_002826.4 1 3316 2244 NP_002817.2 O00391 substitution intron GRCh37 180144375 180144375 Chr1(GRCh37):g.180144375G>A 367-81 367-81 NM_002826.4:c.367-81G>A p.? p.? 3 2 603120 -81 3' 86.1184 X.22 0.908357 7.18376 86.1184 X.22 0.908357 6.95739 0 rs149144883 yes no Frequency/1000G 2 G 0.000000 0 0.004393 0.000800 0.006100 0.000000 0.010900 0.005800 0.006992 0.001147 0.003580 0.006623 0.000000 0.000000 0.011903 0.004310 0.008197 0.011903 216 10 3 2 0 0 178 15 8 30892 8720 838 302 1622 0 14954 3480 976 0.023148 0.000000 0.000000 0.000000 0.000000 0.000000 0.022472 0.066667 0.000000 5 0 0 0 0 0 4 1 0 206 10 3 2 0 0 170 13 8 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition G A G>A 0.000 0.448 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.0044 0.0058 . 0.011 0.0061 . . . . . 0.6086956 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.1037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0044 . . . 0.33 0.16 182 ENSG00000116260 QSOX1 QSOX1 . . . . . . 560 0.00861857 64976 538 0.00896876 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149144883 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832004 . . . . . . . . . . . . . . . 0.0011 0.0070 0.0036 0.0066 0 0.0043 0.0119 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149144883 rs149144883 1 1538 10 1/0 0,255,255 +rs187650141 1 181690038 G A - CACNA1E 1392 Calcium channel, voltage-dependent, R type, alpha 1E subunit NM_001205293.1 1 15087 6942 NP_001192222.1 Q15878 substitution intron GRCh37 181690038 181690038 Chr1(GRCh37):g.181690038G>A 1956+47 1956+47 NM_001205293.1:c.1956+47G>A p.? p.? 15 15 601013 47 5' 84.4974 IX.89 0.954613 5.00074 84.4974 IX.89 0.954613 4.68265 0 rs187650141 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.005100 0.000000 0.003000 0.005800 0.003257 0.000822 0.003613 0.003501 0.000000 0.005033 0.004368 0.000165 0.003910 0.005033 789 18 110 33 0 130 471 4 23 242230 21910 30442 9426 16674 25832 107842 24222 5882 0.000033 0.000000 0.000197 0.000000 0.000000 0.000077 0.000000 0.000000 0.000000 4 0 3 0 0 1 0 0 0 781 18 104 33 0 128 471 4 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8282 3872 12154 30 6 36 0.00360924 0.00154719 0.00295324 0.00360924 0.00154719 0.00295324 37 transition G A G>A 0.000 0.448 255 PASS . 0.0018 0.01 . 0.0026 . 0.0024 0.0058 . 0.003 0.0051 . . . . . 0.4408602 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . 0.0015 0.003 0.0036 0.0015 0.003 0.0036 . 0.2580 . . . . . . . . 2.920e-03 . . . 0.0003 0.0036 0.0036 0 0 0.0048 0.0078 0.0049 0.0003 0.0031 0.0034 0 0.0004 0.0037 0.0103 0.0048 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.46 0.51 182 ENSG00000198216 CACNA1E CACNA1E . . . . . . 286 0.00440163 64976 274 0.00456773 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187650141 . . . . . . . . . . . . . . . . . . . . . . . 0.002953 . . . . II.76 0.0007 0.0033 0.0036 0.0033 0 0.0002 0.0043 0.0037 0.0050 0.0010 0.0029 0.0024 0.0099 0 0 0.0048 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187650141 rs187650141 1 1538 10 1/0 0,255,255 +rs371520130 1 184446619 C T - C1orf21 15494 Chromosome 1 open reading frame 21 NM_030806.3 1 10308 366 NP_110433.1 Q9H246 substitution 5'UTR GRCh37 184446619 184446619 Chr1(GRCh37):g.184446619C>T -25 -25 NM_030806.3:c.-25C>T p.? p.? 2 100 3' 99.1532 XI.61 0.995908 10.408 99.1532 XI.61 0.995908 10.408 0 rs371520130 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000614 0.000418 0.000275 0.000000 0.000054 0.001088 0.000829 0.000312 0.000478 0.001088 166 10 9 0 1 32 103 8 3 270464 23902 32772 9782 18446 29406 124202 25676 6278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 166 10 9 0 1 32 103 8 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4404 13000 4 2 6 0.000465116 0.000453926 0.000461326 0.000465116 0.000453926 0.000461326 51 transition C T C>T 1.000 0.528 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.48 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . UTR_5_PRIME(MODIFIER||||C1orf21|mRNA|CODING|NM_030806|NM_030806.ex.2) 0.0005 0.0005 0.0005 0.0005 0.0005 0.0005 . I.81 . . . . . . . . 5.921e-04 . . . 0.0006 0.0006 0 0.0002 0 0.0006 0.0014 0.0011 0.0006 0.0006 0 0.0001 0.0003 0.0007 0.0015 0.0011 . . . . . . UTR5 UTR5 UTR5 . . . 0.0002 . . . 0.8 0.65 182 ENSG00000116667 C1orf21 C1orf21 ENST00000235307:c.-25C>T uc001gqv.1:c.-25C>T NM_030806:c.-25C>T . . . 46 0.000707954 64976 45 0.000750175 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371520130 . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0005 0.0006 0.0003 0 5.943e-05 0.0003 0.0008 0.0006 0.0011 0.0003 0.0005 0 0 0 0.0006 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs371520130 . 1 1538 10 1/0 0,255,255 +rs140191774 1 184853890 T C - FAM129A 16784 Family with sequence similarity 129, member A NM_052966.3 -1 6969 2787 NP_443198.1 Q9BZQ8 substitution missense exon GRCh37 184853890 184853890 Chr1(GRCh37):g.184853890T>C 478 478 NM_052966.3:c.478A>G p.Lys160Glu p.Lys160Glu 5 45 3' 75.5935 V.27 0.511275 1.87116 75.5935 V.27 0.511275 2.26653 0 rs140191774 yes no Frequency/1000G 2 T 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.006000 0.008600 0.004227 0.001040 0.007235 0.010053 0.000000 0.000357 0.005562 0.001396 0.006811 0.010053 1171 25 249 102 0 11 704 36 44 277048 24034 34414 10146 18858 30780 126568 25788 6460 0.000022 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 3 0 1 0 0 0 2 0 0 1165 25 247 102 0 11 700 36 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8556 4397 12953 44 9 53 0.00511628 0.00204267 0.00407504 0.00511628 0.00204267 0.00407504 92 transition A G A>G 0.819 1.900 K Lys AAG 0.575 E Glu GAG 0.583 160 12 7 Platypus 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 0.21 III.28 255 PASS . 0.0046 0.02 . 0.01 . 0.0024 0.0086 . 0.006 . ENSG00000135842:ENST00000367511:exon5:c.A478G:p.K160E FAM129A:uc001gra.4:exon5:c.A478G:p.K160E FAM129A:NM_052966:exon5:c.A478G:p.K160E . . 0.4375 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.362 . @ . . . . . 1 0.928 . . 112.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K160E|FAM129A|mRNA|CODING|NM_052966|NM_052966.ex.5) 0.002 0.0041 0.0051 0.002 0.0041 0.0051 . 0.4899 0.485 0.490 c . . . . . 4.017e-03 . . . 0.0010 0.0046 0.0074 0 0.0013 0.0074 0.0056 0.0002 0.0011 0.0038 0.0075 0 0.0017 0.0053 0.0043 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.170 . . exonic exonic exonic . . 0.861 0.0024 . . . 0.26 0.35 182 ENSG00000135842 FAM129A FAM129A . . . 0.997 0.350 . 290 0.00446319 64976 278 0.00463441 59986 Uncertain_significance . 0 . 0.559 . . . . T 0.178 0.007 . . 37 . 0.175 . . 0.048 . . . 0.622 0.277 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.689 . . 0.616 . . . . . . 0 0.221 . . . . . 0.536 . 0.542 . HET 0.14 rs140191774 . 0.029 . . . . . 0.004578754578754579 0.0 0.016574585635359115 0.0 0.005277044854881266 XII.35 0.001873 ENST00000367511 V.63 V.63 . 0.200000 Q9BZQ8 . . . 0.004075 . 0.404 . . V.63 0.0010 0.0044 0.0071 0.0099 0 0.0013 0.0058 0.0069 0.0004 0.0011 0.0032 0.0107 0.0166 0 0.0017 0.0041 0.0061 . . 0.730 . 2.144 2.144000 . . 0.200000 . . 1.0E-255 0.966 0.337 . 0.436 0.735 . 0.555 . 0.603 2.144 0.991 0.02 . . rs140191774 rs140191774 1 1538 10 1/0 0,252,255 +. 1 196392277 AC A - KCNT2 18866 Potassium sodium-activated channel subfamily T member 2 NM_198503.4 -1 6120 3408 NP_940905.2 Q6UVM3 deletion intron GRCh37 196392278 196392278 Chr1(GRCh37):g.196392278del 1122-35 1122-35 NM_198503.4:c.1122-35del p.? p.? 12 11 610044 -35 3' 77.9342 X.96 0.930072 5.51685 77.9342 X.96 0.930072 5.37107 0 rs561687480 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.002000 0.000000 0.002000 0.000000 0.004582 0.000485 0.000785 0.007754 0.000065 0.001659 0.007703 0.004286 0.005234 0.007754 1018 10 22 66 1 38 751 102 28 222178 20616 28032 8512 15476 22904 97490 23798 5350 0.000081 0.000000 0.000000 0.000235 0.000000 0.000175 0.000103 0.000084 0.000000 9 0 0 1 0 2 5 1 0 1000 10 22 64 1 34 741 100 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8197 4263 12460 51 1 52 0.00618332 0.000234522 0.00415601 0.00618332 0.000234522 0.00415601 40 G 255 Pass . . . . . . 0.0008 . . 0.002 0.002 . . . . . 0.61538464 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . 0.0002 0.0042 0.0062 0.0002 0.0042 0.0062 . . . . . . . . . . 3.987e-03 . . . 0.0002 0.0044 0.0007 0.0003 0.0045 0.0080 0.0065 0.0021 0.0002 0.0049 0.0006 0 0.0052 0.0094 0.0051 0.0022 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000162687 KCNT2 KCNT2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs561687480 . . . . . . . . . . . . . . . . . . . . . . . 0.004155 . . . . . 0.0003 0.0041 0.0007 0.0077 7.194e-05 0.0042 0.0067 0.0046 0.0017 0.0008 0.0077 0.0024 0.0099 0 0.0046 0.0135 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0062 . . . . 1 1538 10 1.I 0,12,21 +. 1 200143065 TTT T - NR5A2 7984 Nuclear receptor subfamily 5, group A, member 2 NM_205860.2 1 5086 1626 NP_995582.1 O00482 deletion intron GRCh37 200143082 200143083 Chr1(GRCh37):g.200143082_200143083del 1379-9 1379-8 NM_205860.2:c.1379-9_1379-8del p.? p.? 8 7 604453 -8 3' 95.4805 9.89545 0.855856 X.77 95.4805 9.89545 0.855856 10.365 0 rs756730577 yes no Frequency 1 0.000000 0 0.033361 0.082626 0.054984 0.046813 0.027920 0.032003 0.019927 0.010791 0.018919 0.082626 1584 701 139 47 87 93 415 81 21 47480 8484 2528 1004 3116 2906 20826 7506 1110 0.001516 0.008487 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 36 36 0 0 0 0 0 0 0 683 39 91 42 61 63 318 55 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.5217391 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000116833 NR5A2 NR5A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv873093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,28 +rs6674599 1 200818980 C G - CAMSAP2 29188 Calmodulin regulated spectrin-associated protein family, member 2 NM_001297707.1 1 7388 4470 NP_001284636.1 Q08AD1 substitution missense exon GRCh37 200818980 200818980 Chr1(GRCh37):g.200818980C>G 3116 3116 NM_001297707.1:c.3116C>G p.Pro1039Arg p.Pro1039Arg 12 613775 -383 5' 67.987 2.02065 0.015347 0 67.987 2.02065 0.015347 0 0 New Donor Site 200818979 5.55026 0.230295 76.4998 rs6674599 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.004992 0.001500 0.009200 0.000000 0.010900 0.004300 0.007828 0.002289 0.005117 0.007192 0.000053 0.007017 0.012156 0.002095 0.008503 0.012156 2169 55 176 73 1 216 1539 54 55 277072 24026 34398 10150 18868 30782 126600 25780 6468 0.000144 0.000000 0.000233 0.000000 0.000000 0.000195 0.000205 0.000000 0.000000 20 0 4 0 0 3 13 0 0 2129 55 168 73 1 210 1513 54 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8514 4395 12909 86 11 97 0.01 0.0024966 0.0074581 0.01 0.0024966 0.0074581 120 transversion C G C>G 1.000 4.241 P Pro CCT 0.283 R Arg CGT 0.082 1039 12 8 Zebrafish -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 248.24 0.00 Tolerated 0.69 III.35 255 PASS 0.002 0.0046 0.0028 . 0.01 0.0015 0.005 0.0043 . 0.011 0.0092 . . . . . 0.5 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.491 . @ . . . . . 1 0.462 . . 40.0 . . . 0.0025 0.0075 0.01 0.0025 0.0075 0.01 . 0.4990 0.566 0.499 c . . . . . 7.940e-03 . . . 0.0016 0.0079 0.0037 0 0.0024 0.0127 0.0098 0.0067 0.0016 0.0076 0.0038 0 0.0029 0.0113 0.0072 0.0068 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.171 . . exonic exonic exonic . . 0.955 0.0050 . . . 0.74 0.38 182 ENSG00000118200 CAMSAP2 CAMSAP2 . . . 1.000 0.747 . 697 0.010727 64976 672 0.0112026 59986 Uncertain_significance . 0 . 0.373 . . . . . . . . . 37 . 0.258 . . 0.001 . . . 0.092 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.425 . . 0 0 0 0 0 0 . 0.588 . . 0.537 . . . . . . 0 0.465 . . . . . 0.987 . 0.865 . HET 0.03 rs6674599 . . . . . . . 0.004578754578754579 0.0020325203252032522 0.0027624309392265192 0.0 0.010554089709762533 20.3214 0.002675 . V.92 V.92 . 0.100000 . . . . 0.007458 . 0.729 . . V.92 0.0024 0.0080 0.0049 0.0071 5.798e-05 0.0022 0.0123 0.0089 0.0070 0.0022 0.0067 0.0119 0.0099 0 0.0011 0.0110 0.0061 . . 0.730 . 2.804 2.804000 . . 0.100000 . . 1.0E-255 1.000 0.715 . 0.750 0.996 . 0.555 . 0.490 2.804 0.871 0.01 rs6674599 rs6674599 rs6674599 rs6674599 1 1538 10 1/0 0,255,255 +rs183195890 1 201013535 G A - CACNA1S 1397 Calcium channel, voltage-dependent, L type, alpha 1S subunit NM_000069.2 -1 6168 5622 NP_000060.2 Q13698 substitution missense exon GRCh37 201013535 201013535 Chr1(GRCh37):g.201013535G>A 4718 4718 NM_000069.2:c.4718C>T p.Thr1573Met p.Thr1573Met 39 114208 50 3' 86.9404 8.92783 0.475303 9.66093 86.9404 8.92783 0.475303 9.39695 0 Cryptic Acceptor Strongly Activated 201013526 4.33313 0.066943 74.5214 4.52121 0.121173 77.2332 rs183195890 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000322 0.000042 0.000465 0.000000 0.001113 0.000032 0.000372 0.000039 0.000310 0.001113 89 1 16 0 21 1 47 1 2 276636 23984 34406 10126 18866 30782 126404 25608 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 89 1 16 0 21 1 47 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 71 transition C T C>T 1.000 5.290 T Thr ACG 0.116 M Met ATG 1.000 1573 15 5 Tetraodon -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0.01 III.61 good 1.177E-2 0.003568 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . CACNA1S:uc001gvv.3:exon39:c.C4718T:p.T1573M CACNA1S:NM_000069:exon39:c.C4718T:p.T1573M . . 0.54310346 . . @ 63 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.750 . @ . . . . . 1 0.547 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1573M|CACNA1S|mRNA|CODING|NM_000069|NM_000069.ex.39) . 0.0001 0.0001 . 0.0001 0.0001 . 0.3590 0.373 0.359 c . . . . . 2.526e-04 . . . 0 0.0002 0.0003 0 0 0.0004 0.0014 0 0 0.0003 0.0003 0.0006 0 0.0004 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.960 . . exonic exonic exonic . . 0.632 0.0004 . . . 0.38 0.35 182 ENSG00000081248 CACNA1S CACNA1S . . . 1.000 0.747 . 50 0.000769515 64976 48 0.000800187 59986 Uncertain_significance . 0 . 0.005 . . . . D 0.792 0.113 . . 37 . 0.941 . . 0.847 . . . 0.365 0.355 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.368 . . 0 0 0 0 0 0 . 0.501 . . 0.401 . . . . . . 0 0.784 . . . . . 0.892 . 0.319 . HET 0 rs183195890 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 18.0493 0.0 . IV.89 IV.89 . 0.000000 Q13698 . . Name\x3dnsv4054 0.000077 . 0.690 . . IV.89 6.543e-05 0.0003 0.0005 0 0.0012 4.521e-05 0.0004 0.0004 3.249e-05 0 9.717e-05 0 0 0.0006 0 0.0001 0 . . 0.283 . 2.256 2.256000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.122 0.412 . 0.972 . 0.535 2.256 0.917 0.0013 . . rs183195890 rs183195890 1 1538 10 1/0 0,255,255 +. 1 201178696 G C - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178696 201178696 Chr1(GRCh37):g.201178696G>C 4675 4675 NM_001164586.1:c.4675G>C p.Gly1559Arg p.Gly1559Arg 12 617309 3486 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 Cryptic Donor Strongly Activated 201178697 3.99481 0.560552 78.1021 6.52318 0.825094 78.1486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29586 8332 800 292 1540 0 14288 3392 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 53 Genomes transversion G C G>C 0.709 0.851 G Gly GGG 0.250 R Arg CGG 0.207 1559 20 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 180 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.G4675C:p.G1559R IGFN1:uc001gwc.3:exon12:c.G4675C:p.G1559R IGFN1:NM_001164586:exon12:c.G4675C:p.G1559R . . 0.11372549 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.492 . @ . . . . . 1 0.150 . . 255.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G1559R|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -0.8225 -0.963 -0.822 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.964 . . exonic exonic exonic . . 0.171 @ . . . . . . ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.922 0.348 . . 37 . 0.878 . . 0.767 . . . . 0.494 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.065 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.501 . . . . . 0.171 . 0.084 . LowAF . . . . . . . . . . . . . . V.97 . ENST00000335211 1.VII 0.686 . . . . . Name\x3desv25305 . . 0.212 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.133 . 0.054 0.054000 . . . . . 1.0E-180 0.000 0.063 . 0.043 0.012 . 0.232 . 0.005 0.054 0.150 . . . . . 1 1538 10 1/0 0,187,255 +. 1 201178705 A G - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178705 201178705 Chr1(GRCh37):g.201178705A>G 4684 4684 NM_001164586.1:c.4684A>G p.Asn1562Asp p.Asn1562Asp 12 617309 3495 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28152 7876 782 284 1464 0 13560 3272 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 57 Genomes transition A G A>G 0.000 0.044 N Asn AAT 0.464 D Asp GAT 0.461 1562 20 1 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 180 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.A4684G:p.N1562D IGFN1:uc001gwc.3:exon12:c.A4684G:p.N1562D IGFN1:NM_001164586:exon12:c.A4684G:p.N1562D . . 0.1119403 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.136 . @ . . . . . 1 0.126 . . 268.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N1562D|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.2921 -1.449 -1.292 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.879 . . exonic exonic exonic . . 0.096 @ . . . . . . ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.414 0.019 . . 37 . 0.679 . . 0.540 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.127 . . . . . 0.190 . 0.039 . LowAF . . . . . . . . . . . . . . 6.0647 . ENST00000335211 I.71 -1.02 . . . . . Name\x3desv25305 . . 0.004 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.133 . -0.656 -0.656000 . . . . . 1.0E-180 0.000 0.063 . 0.043 0.001 . 0.008 . 0.027 -0.656 -1.219 . . . . . 1 1538 10 1/0 0,185,255 +rs200427142 1 201178708 A G - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178708 201178708 Chr1(GRCh37):g.201178708A>G 4687 4687 NM_001164586.1:c.4687A>G p.Lys1563Glu p.Lys1563Glu 12 617309 3498 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 rs200427142 no no 0 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000250 0.000033 3 0 0 0 0 0 2 0 1 144684 13664 21488 7132 10418 19254 61198 7536 3994 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.198 K Lys AAG 0.575 E Glu GAG 0.583 1563 20 1 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 192 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.A4687G:p.K1563E IGFN1:uc001gwc.3:exon12:c.A4687G:p.K1563E IGFN1:NM_001164586:exon12:c.A4687G:p.K1563E . . 0.14007781 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.110 . . 257.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K1563E|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.2094 -1.363 -1.209 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.895 . . exonic exonic exonic . . 0.108 @ . . . 0.36 0.46 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.717 0.073 . . 37 . 0.721 . . 0.577 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.022 . . . . . 0.232 . 0.009 . LowAF . rs200427142 . . . . . . . . . . . . VI.63 . ENST00000335211 I.71 -0.667 . . . . . Name\x3desv25305 . . 0.001 . . . 0 0 0 0 0 0 0 0 0 0 0.0001 0 0 0 0 0.0002 0.0013 . . 0.133 . -0.645 -0.645000 . . . . . 9.999999999999999E-193 0.000 0.063 . 0.016 0.001 . 0.044 . 0.002 -0.645 -1.748 . . . rs200427142 rs200427142 1 1538 10 1/0 0,189,255 +rs201505263 1 201178844 T C - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178844 201178844 Chr1(GRCh37):g.201178844T>C 4823 4823 NM_001164586.1:c.4823T>C p.Val1608Ala p.Val1608Ala 12 617309 3634 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 rs201505263 no no 0 0.000000 0 0.000550 0.003504 0.000065 0.000136 0.000739 0.000000 0.000503 0.001202 0.001083 0.003504 56 19 1 1 3 0 22 7 3 101728 5422 15296 7352 4060 17228 43774 5826 2770 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 19 1 1 3 0 22 7 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.086 V Val GTT 0.178 A Ala GCT 0.263 1608 20 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 146 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.T4823C:p.V1608A IGFN1:uc001gwc.3:exon12:c.T4823C:p.V1608A IGFN1:NM_001164586:exon12:c.T4823C:p.V1608A . . 0.110552765 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.073 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V1608A|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.6860 -1.819 -1.686 c . . . . . . . . . 0.0048 0.0012 0.0044 0 0 0.0020 0 0 0.0038 0.0010 0.0056 0 0 0.0019 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.874 . . exonic exonic exonic . . 0.093 @ . . . 0.47 0.53 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.230 0.009 . . 37 . 0.653 . . 0.521 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.037 . 0.005 . LowAF . rs201505263 . . . . . . . . . . . . II.95 0.001425 ENST00000335211 II.38 -1.12 . . . . . Name\x3desv25305 . . 0.009 . . . 0.0003 2.196e-05 0 0 0 0 2.627e-05 0 0 0.0071 0.0051 0.0033 0.0070 0.0058 0.0063 0.0037 0.0088 . . 0.203 . -0.621 -0.621000 . . . . . 1.0E-146 0.000 0.063 . 0.016 0.000 . 0.002 . 0.002 -0.621 -1.964 . . . rs201505263 rs201505263 1 1538 10 1/0 0,199,255 +rs189258058 1 201178876 G A - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201178876 201178876 Chr1(GRCh37):g.201178876G>A 4855 4855 NM_001164586.1:c.4855G>A p.Gly1619Ser p.Gly1619Ser 12 617309 3666 3' 66.2455 II.62 0.000844 0 66.2455 II.62 0.000844 0 0 rs189258058 no no 0 0.000000 0 0.000025 0.000000 0.000000 0.000000 0.000000 0.000089 0.000030 0.000000 0.000000 0.000089 4 0 0 0 0 2 2 0 0 158768 13614 23968 8422 10920 22434 66964 8018 4428 0.000013 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.205 G Gly GGT 0.162 S Ser AGT 0.149 1619 20 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 180 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.G4855A:p.G1619S IGFN1:uc001gwc.3:exon12:c.G4855A:p.G1619S IGFN1:NM_001164586:exon12:c.G4855A:p.G1619S . . 0.1125 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.211 . @ . . . . . 1 0.293 . . 240.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G1619S|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.1238 -1.250 -1.124 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.981 . . exonic exonic exonic . . 0.190 @ . . . 0.43 0.41 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.793 0.114 . . 37 . 0.900 . . 0.832 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.212 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.284 . . . . . 0.123 . 0.009 . LowAF . rs189258058 . . . . . . . . . . . . IV.47 . ENST00000335211 I.97 1.II . . . . . Name\x3desv25305 . . 0.077 . . . 0 1.488e-05 0 0 0 0 0 0 8.915e-05 0 8.201e-05 0 0 0 0 0.0002 0 . . 0.133 . 0.174 0.174000 . . . . . 1.0E-180 0.000 0.063 . 0.016 0.000 . 0.116 . 0.120 0.174 -2.616 . . . rs189258058 rs189258058 1 1538 10 1/0 0,189,255 +rs61818162 1 201179275 G C - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201179275 201179275 Chr1(GRCh37):g.201179275G>C 5254 5254 NM_001164586.1:c.5254G>C p.Ala1752Pro p.Ala1752Pro 12 617309 -3475 5' 89.6127 X.54 0.996105 9.57811 89.6127 X.54 0.996105 9.57811 0 Cryptic Acceptor Strongly Activated 201179284 2.15872 0.017333 69.2936 2.84088 0.094262 72.0345 rs61818162 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000543 0.000539 0.000231 0.000000 0.001564 0.000298 0.000586 0.001612 0.000297 0.001612 67 4 5 0 13 6 29 9 1 123344 7420 21684 7330 8310 20122 49526 5582 3370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 4 5 0 13 6 29 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.043 0.528 A Ala GCT 0.263 P Pro CCT 0.283 1752 20 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 210 PASS . . . . . . 0.0002 . 0.001 . . ENSG00000163395:ENST00000335211:exon12:c.G5254C:p.A1752P IGFN1:uc001gwc.3:exon12:c.G5254C:p.A1752P IGFN1:NM_001164586:exon12:c.G5254C:p.A1752P . . 0.18487395 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.193 . @ . . . . . 1 0.260 . . 357.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A1752P|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -0.9460 -1.100 -0.946 c . . . . . 2.793e-04 . . . 0.0014 0.0002 0 0.0058 0 0 0 0.0001 0 9.762e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.885 . . exonic exonic exonic . . 0.170 0.0002 . . . 0.45 0.31 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.750 0.087 . . 37 . 0.711 . . 0.576 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.203 . . . . . 0.110 . 0.035 . HET . rs61818162 . . . . . . . . . . . . IV.76 . ENST00000335211 I.69 0.671 . . . . . . . . 0.028 . . . 0.0004 0.0004 0.0001 0 0.0016 0 0.0006 0 0.0003 0.0011 0.0024 0.0083 0 0 0.0103 0.0006 0.0055 . . 0.133 . -0.220 -0.220000 . . . . . 1.0E-210 0.000 0.063 . 0.016 0.006 . 0.149 . 0.277 -0.220 0.150 . rs61818162 rs61818162 rs61818162 rs61818162 1 1538 10 1/0 0,179,255 +rs55883779 1 201180085 G A - IGFN1 24607 Immunoglobulin-like and fibronectin type III domain containing 1 NM_001164586.1 1 11810 11127 NP_001158058.1 substitution missense exon GRCh37 201180085 201180085 Chr1(GRCh37):g.201180085G>A 6064 6064 NM_001164586.1:c.6064G>A p.Gly2022Ser p.Gly2022Ser 12 617309 -2665 5' 89.6127 X.54 0.996105 9.57811 89.6127 X.54 0.996105 9.57811 0 rs55883779 no no 0 G 0.000000 0 0.000040 0.000071 0.000047 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000071 6 1 1 0 0 0 4 0 0 149012 14144 21454 7346 10692 20306 63876 7150 4044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.763 G Gly GGT 0.162 S Ser AGT 0.149 2022 20 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 175 PASS . . . . . . . . . . . ENSG00000163395:ENST00000335211:exon12:c.G6064A:p.G2022S IGFN1:uc001gwc.3:exon12:c.G6064A:p.G2022S IGFN1:NM_001164586:exon12:c.G6064A:p.G2022S . . 0.10215054 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.221 . @ . . . . . 1 0.065 . . 186.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G2022S|IGFN1|mRNA|CODING|NM_001164586|NM_001164586.ex.12) . . . . . . . -1.1199 -1.289 -1.120 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.950 . . exonic exonic exonic . . 0.043 @ . . . 0.36 0.35 182 ENSG00000163395 IGFN1 IGFN1 . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.882 0.230 . . 37 . 0.822 . . 0.724 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.234 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.226 . . . . . 0.208 . 0.035 . LowAF . rs55883779 . . . . . . . . . . . . VI.72 . ENST00000335211 II.53 -3.6 . . . . . . . . 0.026 . . . 0 2.423e-05 4.803e-05 0 0 0 3.889e-05 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . 0.133 . -0.264 -0.264000 . . . . . 1.0E-175 0.002 0.151 . 0.016 0.000 . 0.221 . 0.107 -0.264 -0.402 . rs55883779 rs55883779 rs55883779 rs202174330 1 1538 10 1/0 0,199,255 +rs138032231 1 204126444 G A - REN 9958 Renin NM_000537.3 -1 1465 1221 NP_000528.1 P00797 substitution intron GRCh37 204126444 204126444 Chr1(GRCh37):g.204126444G>A 698+45 698+45 NM_000537.3:c.698+45C>T p.? p.? 6 6 179820 45 5' 73.8844 6.92815 0.951988 2.35931 73.8844 6.92815 0.951988 2.06082 0 rs138032231 yes no Frequency/1000G 2 G 0.000000 0 0.003395 0.000000 0.006100 0.000000 0.008900 0.002900 0.007023 0.000874 0.001947 0.000000 0.000053 0.008089 0.008428 0.019772 0.004794 0.019772 1947 21 67 0 1 249 1068 510 31 277226 24028 34420 10152 18870 30782 126714 25794 6466 0.000065 0.000000 0.000000 0.000000 0.000000 0.000325 0.000032 0.000078 0.000309 9 0 0 0 0 5 2 1 1 1929 21 67 0 1 239 1064 508 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8523 4398 12921 77 8 85 0.00895349 0.00181571 0.00653545 0.00895349 0.00181571 0.00653545 242 transition C T C>T 0.000 1.739 255 PASS . 0.0037 0.0028 . 0.01 . 0.0034 0.0029 . 0.0089 0.0061 . . . . . 0.5125 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . INTRON(MODIFIER||||REN|mRNA|CODING|NM_000537|) 0.0018 0.0065 0.009 0.0018 0.0065 0.009 . 0.1569 . . . . . . . . 6.803e-03 . . . 0.0012 0.0061 0.0016 0 0.0203 0.0071 0.0042 0.0085 0.0012 0.0066 0.0016 0 0.0197 0.0074 0.0072 0.0085 . . . . . . intronic intronic intronic . . . 0.0034 . . . 0.54 0.52 182 ENSG00000143839 REN REN . . . . . . 492 0.00757203 64976 475 0.00791851 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138032231 . . . . . . . . . . . . . . . . . . . . . . . 0.006535 . . . . II.61 0.0009 0.0068 0.0018 0 5.798e-05 0.0203 0.0079 0.0042 0.0081 0.0008 0.0086 0.0084 0 0 0.0166 0.0124 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61764270 rs61764270 rs138032231 rs138032231 1 1538 10 1/0 0,255,255 +. 1 204506196 A G - MDM4 6974 MDM4, p53 regulator NM_002393.4 1 10077 1473 NP_002384.2 O15151 substitution intron GRCh37 204506196 204506196 Chr1(GRCh37):g.204506196A>G 344-362 344-362 NM_002393.4:c.344-362A>G p.? p.? 6 5 602704 -362 3' 84.2148 VII.31 0.853862 6.36863 84.2148 VII.31 0.853862 6.36863 0 rs946914304 no no 0 A 0.000000 0 0.000129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000266 0.000000 0.000000 0.000266 4 0 0 0 0 0 4 0 0 30972 8730 838 302 1622 0 15010 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition A G A>G 0.024 0.770 255 PASS . . . . . . . . . . . . . . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . 0.4662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198625 MDM4 MDM4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs140933861 1 207647249 A G - CR2 2336 Complement component (3d/Epstein Barr virus) receptor 2 NM_001006658.2 1 4170 3279 NP_001006659.1 substitution intron GRCh37 207647249 207647249 Chr1(GRCh37):g.207647249A>G 2240+19 2240+19 NM_001006658.2:c.2240+19A>G p.? p.? 12 12 120650 19 5' 82.5488 8.73118 0.991452 5.31295 82.5488 8.73118 0.991452 5.28103 0 Cryptic Donor Strongly Activated 207647244 0.00044 56.2265 1.09101 0.017934 68.3781 rs140933861 yes no Frequency/1000G 2 A 0.000000 0 0.000998 0.000000 0.000000 0.001000 0.004000 0.000000 0.003738 0.000167 0.000029 0.004435 0.000000 0.000000 0.005120 0.012078 0.004503 0.012078 1033 4 1 45 0 0 647 307 29 276328 24016 34302 10146 18854 30778 126374 25418 6440 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000079 0.000311 7 0 0 0 0 0 5 1 1 1019 4 1 45 0 0 637 305 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4405 12980 25 1 26 0.00290698 0.000226963 0.00199908 0.00290698 0.000226963 0.00199908 69 transition A G A>G 0.000 0.690 255 PASS . 0.0018 . 0.0017 0.004 . 0.001 . 0.001 0.004 . . . . . . 0.4848485 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . 0.0002 0.002 0.0029 0.0002 0.002 0.0029 . 0.3580 . . . . . . . . 3.489e-03 . . . 0.0003 0.0023 0 0 0.0095 0.0039 0.0014 0 0.0001 0.0029 0 0 0.0115 0.0041 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.26 0.3 182 ENSG00000117322 CR2 CR2 . . . . . . 211 0.00324735 64976 206 0.00343413 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140933861 . . . . . . . . . . . . . . . . . . . . . . . 0.001999 . . . . II.91 0.0003 0.0034 2.988e-05 0.0044 0 0.0121 0.0045 0.0033 0 0 0.0064 0 0.0066 0 0.0117 0.0095 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs140933861 rs140933861 1 1538 10 1/0 0,255,255 +rs34978978 1 212957827 T C - NSL1 24548 NSL1, MIS12 kinetochore complex component NM_015471.3 -1 13135 846 NP_056286.3 Q96IY1 substitution missense exon GRCh37 212957827 212957827 Chr1(GRCh37):g.212957827T>C 322 322 NM_015471.3:c.322A>G p.Ile108Val p.Ile108Val 3 609174 9 3' 83.6724 8.84215 0.912205 7.78993 83.6724 8.84215 0.89026 7.91857 -0.00801903 Kinetochore Mis14 rs34978978 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.007000 0.002900 0.004660 0.000341 0.000858 0.000107 0.000000 0.000000 0.005841 0.017450 0.004036 0.017450 1201 8 25 1 0 0 710 433 24 257750 23480 29140 9376 17642 25802 121550 24814 5946 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000161 0.000000 4 0 0 0 0 0 2 2 0 1193 8 25 1 0 0 706 429 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4402 12945 45 0 45 0.00523987 0 0.0034642 0.00523987 0 0.0034642 86 transition A G A>G 1.000 3.111 I Ile ATC 0.481 V Val GTC 0.240 108 12 10 Frog 3 3 4 0 0 5.II 5.IX 111 84 29 C0 138.34 0.00 Tolerated 0.4 II.87 good 3.104E-1 0.001314 255 PASS . 0.0032 0.0028 . 0.01 . 0.0018 0.0029 . 0.007 . . . . . . 0.42857143 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.549 . @ . . . . . 1 0.942 . . 21.0 . . . . 0.0035 0.0052 . 0.0035 0.0052 . 0.6673 0.648 0.667 c . . . . . 4.208e-03 . . . 9.958e-05 0.0030 0.0007 0 0.0170 0.0047 0.0029 0 0 0.0038 0.0006 0 0.0160 0.0054 0.0030 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.830 . . exonic exonic exonic . . 0.832 0.0018 . . . 0.45 0.28 182 ENSG00000117697 NSL1 NSL1 . . . 1.000 0.489 . 276 0.00424772 64976 267 0.00445104 59986 Uncertain_significance . 0 . 0.457 . . . . . . . . . 37 . 0.857 . . 0.872 . . . 0.752 0.404 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.689 . . 0.807 . . . . . . 0 0.912 . . . . . 0.616 . 0.421 . HET 0 rs34978978 . . . . . . . 0.003205128205128205 0.0 0.0027624309392265192 0.0 0.0079155672823219 13.6418 0.0 . V.55 V.55 . 0.140000 . . . Name\x3ddgv179e1 0.003464 . 0.504 . . V.55 0.0002 0.0044 0.0008 0.0001 0 0.0174 0.0055 0.0034 0 0.0006 0.0064 0.0012 0 0 0.0175 0.0083 0.0071 . . 0.924 . 2.099 2.099000 . . 0.140000 . . 1.0E-255 1.000 0.715 . 0.562 0.916 . 0.591 . 0.807 2.099 0.991 0.01 rs34978978 rs34978978 rs34978978 rs34978978 1 1538 10 1/0 0,255,255 +rs141413721 1 213146141 C T - VASH2 25723 Vasohibin 2 NM_001301056.1 1 4494 1068 NP_001287985.1 Q86V25 substitution synonymous exon GRCh37 213146141 213146141 Chr1(GRCh37):g.213146141C>T 717 717 NM_001301056.1:c.717C>T p.Tyr239= p.Tyr239Tyr 6 610471 -163 5' 85.2503 8.22968 0.892828 9.27975 85.2503 8.22968 0.892828 9.27975 0 Cryptic Acceptor Strongly Activated 213146152 0.000297 69.1966 1.27416 0.000705 73.2985 rs141413721 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002035 0.000291 0.000174 0.000394 0.000000 0.000000 0.002243 0.009693 0.002011 0.009693 564 7 6 4 0 0 284 250 13 277126 24034 34418 10146 18870 30782 126618 25792 6466 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000078 0.000000 2 0 0 0 0 0 1 1 0 560 7 6 4 0 0 282 248 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4405 13002 3 1 4 0.000348837 0.000226963 0.00030755 0.000348837 0.000226963 0.00030755 116 transition C T C>T 1.000 2.546 Y Tyr TAC 0.562 Y Tyr TAT 0.438 239 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54347825 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 92.0 . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . I.09 . . . . . . . . 1.760e-03 . . . 0.0005 0.0013 8.646e-05 0 0.0113 0.0017 0.0028 0 0.0004 0.0015 8.916e-05 0 0.0097 0.0016 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.58 0.52 182 ENSG00000143494 VASH2 VASH2 . . . . . . 90 0.00138513 64976 89 0.00148368 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141413721 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv29349 0.000308 . . . . III.33 0.0003 0.0018 0.0002 0.0002 0 0.0097 0.0019 0.0013 0 0.0002 0.0037 0 0.0066 0 0.0095 0.0047 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs141413721 rs141413721 1 1538 10 1/0 0,255,255 +rs558626579 1 214821948 G A - CENPF 1857 Centromere protein F, 350/400kDa (mitosin) NM_016343.3 1 10296 9345 NP_057427.3 substitution intron GRCh37 214821948 214821948 Chr1(GRCh37):g.214821948G>A 7831-70 7831-70 NM_016343.3:c.7831-70G>A p.? p.? 14 13 600236 -70 3' 0 0 0.000318 0 0 0 0.000318 0 0 rs558626579 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.011200 0.000000 0.000000 0.000000 0.000097 0.000000 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.001020 0.000133 3 0 0 0 0 0 2 0 1 30970 8730 838 302 1620 0 15006 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 0.044 255 PASS . . . . . . 0.0022 . . . 0.011 . . . . . 0.51111114 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||CENPF|mRNA|CODING|NM_016343|) . . . . . . . 0.2229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0022 . . . . . . ENSG00000117724 CENPF CENPF . . . . . . 35 0.00053866 64976 24 0.000400093 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558626579 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv873165 . . . . . . . . . . . . . . . 0 9.687e-05 0 0 0 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr1:219784636 C/T) 1 219784636 C T No Alamut gene - other known genes: ZC3H11B ZC3H11B +rs189835847 1 223740100 C T - CAPN8 1485 Calpain 8 ENST00000419193.4 -1 1399 1311 ENSP00000401665 substitution downstream GRCh37 223740100 223740100 Chr1(GRCh37):g.223740100C>T *63572 *63572 ENST00000419193.4:c.*63572G>A p.? p.? 10 63748 3' 74.3043 3.88924 0.008316 0 74.3043 3.88924 0.008316 0 0 rs189835847 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000800 0.001000 0.000000 0.003000 0.004300 0.007220 0.001945 0.005450 0.037190 0.000000 0.000000 0.011748 0.001233 0.008516 0.037190 190 14 4 9 0 0 152 4 7 26314 7198 734 242 1136 0 12938 3244 822 0.178947 0.142857 0.250000 0.444444 0.000000 0.000000 0.157895 0.250000 0.285714 34 2 1 4 0 0 24 1 2 122 10 2 1 0 0 104 2 3 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition G A G>A 0.000 -2.619 255 PASS 0.01 0.01 0.01 . 0.01 0.0008 0.0016 0.0043 . 0.003 0.001 . . . . . 0.46706587 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . INTRON(MODIFIER||||CAPN8|mRNA|CODING|NM_001143962|) . . . . . . . -0.6816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.41 0.19 182 ENSG00000203697 CAPN8 CAPN8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189835847 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832681 . . . . . . . . . . . . . . . 0.0019 0.0072 0.0054 0.0372 0 0.0012 0.0117 0.0085 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189835847 rs189835847 1 1538 10 1/0 0,235,255 +. 1 223742302 C T - CAPN8 1485 Calpain 8 ENST00000419193.4 -1 1399 1311 ENSP00000401665 substitution downstream GRCh37 223742302 223742302 Chr1(GRCh37):g.223742302C>T *61370 *61370 ENST00000419193.4:c.*61370G>A p.? p.? 10 61546 3' 74.3043 3.88924 0.008316 0 74.3043 3.88924 0.008316 0 0 transition G A G>A 0.992 0.528 255 PASS . . . . . . . . . . . . . . . . 0.34285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||CAPN8|mRNA|CODING|NM_001143962|) . . . . . . . 0.6689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000235428 CAPN8 CAPN8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199748938 1 225600289 T C - LBR 6518 Lamin B receptor NM_002296.3 -1 3823 1848 NP_002287.2 Q14739 substitution synonymous exon GRCh37 225600289 225600289 Chr1(GRCh37):g.225600289T>C 951 951 NM_002296.3:c.951A>G p.Val317= p.Val317Val 8 600024 59 3' 90.0326 X.32 0.992892 14.5563 90.0326 X.32 0.992892 14.8507 0 Ergosterol biosynthesis ERG4/ERG24 rs199748938 yes no Frequency 1 T uncertain_significance 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 0.000111 14 0 0 0 0 0 14 0 0 277002 23980 34412 10144 18864 30780 126592 25770 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000315270.1 germline clinical testing VUS 1 Greenberg dysplasia transition A G A>G 0.000 -4.556 V Val GTA 0.114 V Val GTG 0.468 317 255 PASS . . . . . . . . . . . . . . . . 0.52 . . germline 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000315270.1 Greenberg_dysplasia MedGen:OMIM:Orphanet:SNOMED_CT C1300226:215140:ORPHA1426:389261002 2 . . . 25.0 . . . . . . . . . . -0.2852 . . . . . . . . 5.525e-05 . . . 0 4.43e-05 0 0 0 7.161e-05 0.0014 0 0 3.772e-05 0 0 0 5.524e-05 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.28 182 ENSG00000143815 LBR LBR . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199748938 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832714 . . . . . . 0 5.281e-05 0 0 0 0 0.0001 0 0 0 3.241e-05 0 0 0 0 6.688e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199748938 rs199748938 1 1538 10 1/0 0,255,255 +rs56308606 1 226827300 G A - ITPKB 6179 Inositol 1,4,5-trisphosphate 3-kinase B NM_002221.3 -1 6162 2841 NP_002212.3 P27987 substitution synonymous exon GRCh37 226827300 226827300 Chr1(GRCh37):g.226827300G>A 2511 2511 NM_002221.3:c.2511C>T p.Thr837= p.Thr837Thr 6 147522 -43 5' 87.1266 10.0978 0.99321 9.55158 87.1266 10.0978 0.99321 9.34514 0 Cryptic Donor Strongly Activated 226827306 2.64303 0.025948 71.6429 3.41173 0.204685 77.4215 Inositol polyphosphate kinase rs56308606 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003265 0.000208 0.000755 0.001675 0.000000 0.000065 0.004523 0.009809 0.004485 0.009809 905 5 26 17 0 2 573 253 29 277204 24028 34420 10152 18868 30782 126696 25792 6466 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 899 5 26 17 0 2 569 251 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4406 12979 27 0 27 0.00313953 0 0.00207596 0.00313953 0 0.00207596 178 transition C T C>T 0.031 -2.054 T Thr ACC 0.361 T Thr ACT 0.243 837 255 PASS . 0.0023 . . 0.01 . 0.001 . . 0.005 . . ITPKB:uc010pvo.2:exon6:c.C2511T:p.T837T ITPKB:NM_002221:exon6:c.C2511T:p.T837T . . 0.5 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T837|ITPKB|mRNA|CODING|NM_002221|NM_002221.ex.6) . 0.0021 0.0031 . 0.0021 0.0031 . 0.2646 . . . . . . . . 3.118e-03 . . . 9.632e-05 0.0023 0.0005 0 0.0087 0.0040 0.0014 0 0.0001 0.0027 0.0005 0 0.0101 0.0039 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.24 0.3 182 ENSG00000143772 ITPKB ITPKB . . . . . . 208 0.00320118 64976 203 0.00338412 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56308606 . . . . . . . . . . . . . . . . . . . . . . . 0.002076 . . . . . 0.0001 0.0030 0.0008 0.0015 0 0.0097 0.0041 0.0038 6.497e-05 0.0003 0.0051 0 0.0066 0 0.0103 0.0073 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs56308606 rs56308606 rs56308606 rs56308606 1 1538 10 1/0 0,255,255 +rs114893547 1 227085394 A G - PSEN2 9509 Presenilin 2 (Alzheimer disease 4) NM_000447.2 1 2298 1347 NP_000438.2 P49810 substitution downstream GRCh37 227085394 227085394 Chr1(GRCh37):g.227085394A>G *2114 *2114 NM_000447.2:c.*2114A>G p.? p.? 13 600759 2270 3' 88.1416 10.268 0.867645 13.5527 88.1416 10.268 0.867645 13.5527 0 New Acceptor Site 227085395 2.92541 0.040791 69.6795 rs114893547 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.003000 0.007200 0.006687 0.000229 0.009569 0.013245 0.000617 0.000000 0.009931 0.010303 0.007143 0.013245 207 2 8 4 1 0 149 36 7 30954 8716 836 302 1622 0 15004 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 207 2 8 4 1 0 149 36 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -2.942 255 PASS . 0.01 0.02 . 0.01 . 0.0016 0.0072 . 0.003 . . . . . . 0.5479452 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.5770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 ncRNA_exonic intergenic . . . 0.0016 . . . 0.41 0.33 182 ENSG00000163050 CABC1 . ENST00000366779:c.-63693A>G . dist\x3d1590\x3bdist\x3d42544 . . . 353 0.00543278 64976 344 0.00573467 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114893547 . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0067 0.0096 0.0132 0.0006 0.0103 0.0099 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs114893547 rs114893547 1 1538 10 1/0 0,255,255 +. 1 227279717 G GA - CDC42BPA 1737 CDC42 binding protein kinase alpha (DMPK-like) NM_003607.3 -1 10506 5160 NP_003598.2 duplication intron GRCh37 227279717 227279718 Chr1(GRCh37):g.227279718dup 2250-26 2250-26 NM_003607.3:c.2250-26dup p.? p.? 16 15 603412 -25 3' 67.3251 3.92279 0.016665 0 67.3251 3.92279 0.016665 0 0 rs572019505 yes no Frequency/1000G 2 0.000599 A 3 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.003270 0.000223 0.000547 0.001997 0.000000 0.000000 0.004103 0.010131 0.003232 0.010131 736 5 11 14 0 0 454 236 16 225044 22428 20124 7010 15382 21200 110656 23294 4950 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000172 0.000000 4 0 0 0 0 0 2 2 0 728 5 11 14 0 0 450 232 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8234 4264 12498 16 0 16 0.00193939 0 0.00127857 0.00193939 0 0.00127857 82 T 255 Pass . . . . . . 0.0006 . . 0.003 . . . . . . 0.46875 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . 0.0014 0.0021 . 0.0013 0.0019 . . . . . . . . . . 2.741e-03 . . . 0.0003 0.0019 0.0005 0 0.0088 0.0031 0.0015 0 0.0003 0.0026 0.0005 0 0.0100 0.0036 0.0016 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000143776 CDC42BPA CDC42BPA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs572019505 . . . . . . . . . . . . . . . . . . . . . . . 0.001358 . . . . . 0.0003 0.0029 0.0006 0.0019 0 0.0097 0.0035 0.0020 0 0.0001 0.0055 0 0.0034 0 0.0126 0.0078 0.0085 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0021 . . . . 1 1538 10 1.I 0,12,33 +rs149847629 1 228295843 G A - MRPL55 16686 Mitochondrial ribosomal protein L55 NM_181462.2 -1 865 495 NP_852127.2 substitution intron GRCh37 228295843 228295843 Chr1(GRCh37):g.228295843G>A 27-58 27-58 NM_181462.2:c.27-58C>T p.? p.? 4 3 611859 -58 3' 73.8642 4.14324 0.221627 0 73.8642 4.14324 0.221627 0 0 rs149847629 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.003100 0.000000 0.007000 0.002900 0.003200 0.001145 0.000000 0.003311 0.000000 0.000000 0.004672 0.004582 0.002045 0.004672 99 10 0 1 0 0 70 16 2 30940 8730 836 302 1620 0 14982 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 99 10 0 1 0 0 70 16 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.279 255 PASS . 0.0032 0.01 . 0.01 0.0008 0.0026 0.0029 . 0.007 0.0031 . . . . . 0.49137932 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . -0.1917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.31 0.18 182 ENSG00000162910 MRPL55 MRPL55 . . . . . . 223 0.00343204 64976 210 0.00350082 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149847629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0032 0 0.0033 0 0.0046 0.0047 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149847629 rs149847629 1 1538 10 1/0 0,253,255 +rs774804205 1 228613022 G T - HIST3H3 4778 Histone cluster 3, H3 NM_003493.2 -1 481 411 NP_003484.1 Q16695 substitution missense exon GRCh37 228613022 228613022 Chr1(GRCh37):g.228613022G>T 5 5 NM_003493.2:c.5C>A p.Ala2Asp p.Ala2Asp 1 602820 transversion C A C>A 0.992 4.887 A Ala GCC 0.403 D Asp GAC 0.539 2 10 10 Baker's yeast -2 -2 -3 0 I.38 8.I 13 31 54 126 C65 0.00 125.75 Deleterious 0 IV.32 bad 2.547E-6 2.111E-5 255 PASS . . . . . . . . . . . ENSG00000168148:ENST00000366696:exon1:c.C5A:p.A2D HIST3H3:uc001hsx.1:exon1:c.C5A:p.A2D HIST3H3:NM_003493:exon1:c.C5A:p.A2D . . 0.5081967 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.400 . @ . . . . . 1 0.132 . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A2D|HIST3H3|mRNA|CODING|NM_003493|NM_003493.ex.1) . . . . . . . 0.3862 0.257 0.386 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.524 . . exonic exonic exonic . . 0.400 @ . . . . . . ENSG00000168148 HIST3H3 HIST3H3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.392 . . . . T 0.471 0.024 . . 37 . 0.667 . . 0.795 . . . 0.994 0.460 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.751 . . 0 0 0 0 0 0 . 0.365 . . 0.391 . . . . . . 0 . . . . . . 0.610 . 0.861 . HET 0 . . . . . . . . . . . . . 13.539 . ENST00000366696 III.58 III.58 . 0.000000 Q16695 . . . . . 0.626 . . III.58 . . . . . . . . . . . . . . . . . . . 0.056 . 2.286 2.286000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.108 0.093 . 0.721 . 0.652 2.286 0.913 . . . . . 1 1538 10 1/0 0,255,255 +. 1 229588331 C T - NUP133 18016 Nucleoporin 133kDa NM_018230.2 -1 4170 3471 NP_060700.2 Q8WUM0 substitution missense exon GRCh37 229588331 229588331 Chr1(GRCh37):g.229588331C>T 3040 3040 NM_018230.2:c.3040G>A p.Ala1014Thr p.Ala1014Thr 22 607613 -60 5' 65.1959 4.35966 0.47075 0.466111 65.1959 4.35966 0.47075 0.813441 0 Nucleoporin, Nup133/Nup155-like, C-terminal 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245808 15300 33544 9842 17240 30780 111332 22296 5474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition G A G>A 0.142 1.497 A Ala GCG 0.107 T Thr ACG 0.116 1014 12 5 Cow 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 150.56 0.00 Tolerated 0.52 II.96 good 4.026E-1 0.5555 255 PASS . . . . . . . . . . . . NUP133:uc001htn.3:exon22:c.G3040A:p.A1014T NUP133:NM_018230:exon22:c.G3040A:p.A1014T . . 0.6111111 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.350 . @ . . . . . 1 0.127 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A1014T|NUP133|mRNA|CODING|NM_018230|NM_018230.ex.22) . . . . . . . -0.7858 -0.639 -0.786 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.219 . . exonic exonic exonic . . 0.192 @ . . . . . . ENSG00000069248 NUP133 NUP133 . . . 0.014 0.125 . . . . . . . Uncertain_significance . 0 . 0.369 . . . . T 0.182 0.007 . . 37 . 0.064 . . 0.373 . . . 0.127 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.051 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.059 . . . . . 0.145 . 0.017 . HET 0.48 . . . . . . . . . . . . . V.88 . . V.41 1.V . 0.560000 Q8WUM0 . . . . . 0.383 . . . 0 4.068e-06 0 0 0 0 8.982e-06 0 0 . . . . . . . . . . 0.924 . -0.077 -0.077000 . . 0.560000 . . 1.0E-255 0.991 0.370 . 0.262 0.956 . 0.479 . 0.185 -0.077 0.008 . . . . . 1 1538 10 1/0 0,255,255 +rs148856535 1 229602488 T C - NUP133 18016 Nucleoporin 133kDa NM_018230.2 -1 4170 3471 NP_060700.2 Q8WUM0 substitution missense exon GRCh37 229602488 229602488 Chr1(GRCh37):g.229602488T>C 2092 2092 NM_018230.2:c.2092A>G p.Thr698Ala p.Thr698Ala 16 607613 16 3' 87.9746 IX.98 0.966523 X.21 87.9746 IX.98 0.962083 11.0324 -0.00153126 Nucleoporin, Nup133/Nup155-like, C-terminal rs148856535 yes no Frequency 1 T 0.000000 0 0.000383 0.000083 0.000058 0.000000 0.000000 0.000000 0.000790 0.000039 0.000155 0.000790 106 2 2 0 0 0 100 1 1 276950 24032 34388 10146 18856 30772 126520 25772 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 2 2 0 0 0 100 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 105 transition A G A>G 0.992 1.013 T Thr ACC 0.361 A Ala GCC 0.403 698 12 7 Cow 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 163.23 1.I Tolerated 0.36 II.96 good 5.913E-2 0.4123 255 PASS . . . . . . . . . . . . NUP133:uc001htn.3:exon16:c.A2092G:p.T698A NUP133:NM_018230:exon16:c.A2092G:p.T698A . . 0.5217391 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.257 . @ . . . . . 1 0.180 . . 69.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T698A|NUP133|mRNA|CODING|NM_018230|NM_018230.ex.16) . 0.0002 0.0002 . 0.0002 0.0002 . -0.3981 -0.230 -0.398 c . . . . . 3.631e-04 . . . 0 0.0003 8.682e-05 0 0 0.0006 0 0 0 0.0003 8.953e-05 0 0 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.208 . . exonic exonic exonic . . 0.570 @ . . . 0.59 0.22 182 ENSG00000069248 NUP133 NUP133 . . . 0.193 0.180 . 23 0.000353977 64976 23 0.000383423 59986 Uncertain_significance . 0 . 0.559 . . . . T 0.164 0.006 . . 37 . 0.131 . . 0.232 . . . 0.351 0.306 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.144 . . 0.104 . . . . . . 0 0.065 . . . . . 0.139 . 0.084 . HET 0.22 rs148856535 . . . . . . . . . . . . 5.087 0.0 . V.77 IV.63 . 0.670000 Q8WUM0 . . . 0.000154 . 0.613 . . IV.63 6.535e-05 0.0004 5.961e-05 0 0 4.488e-05 0.0008 0.0002 0 0.0001 0.0005 0 0 0 0 0.0009 0 . . 0.924 . 1.090 1.090000 . . 0.670000 . . 1.0E-255 1.000 0.715 . 0.587 0.875 . 0.448 . 0.635 1.090 0.991 0.0002 . . rs148856535 rs148856535 1 1538 10 1/0 0,255,255 +rs566348210 1 232574719 T C - SIPA1L2 23800 Signal-induced proliferation-associated 1 like 2 NM_020808.4 -1 6600 5169 NP_065859.3 Q9P2F8 substitution intron GRCh37 232574719 232574719 Chr1(GRCh37):g.232574719T>C 4031+135 4031+135 NM_020808.4:c.4031+135A>G p.? p.? 13 13 611609 135 5' 94.2214 9.88355 0.999178 XII.81 94.2214 9.88355 0.999178 XII.81 0 rs566348210 yes no Frequency/1000G 2 T 0.000000 0 0.000810 0.000115 0.000000 0.000000 0.000000 0.000000 0.001205 0.001443 0.001029 0.001443 25 1 0 0 0 0 18 5 1 30848 8716 832 302 1622 0 14938 3466 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 1 0 0 0 0 18 5 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.44186047 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||SIPA1L2|mRNA|CODING|NM_020808|) . . . . . . . -0.3050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000116991 SIPA1L2 SIPA1L2 . . . . . . 11 0.000169293 64976 11 0.000183376 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv546n71 . . . . . . . . . . . . . . . 0.0001 0.0008 0 0 0 0.0014 0.0012 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781144654 1 234509302 G A - COA6 18025 Cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) NM_001206641.2 1 729 468 NP_001193570.2 substitution synonymous exon GRCh37 234509302 234509302 Chr1(GRCh37):g.234509302G>A 90 90 NM_001206641.2:c.90G>A p.Glu30= p.Glu30Glu 1 614772 -123 5' 71.2036 3.97343 0.129952 3.62553 71.2036 3.97343 0.129952 3.62553 0 rs781144654 yes no Frequency 1 G 0.000000 0 0.000082 0.000000 0.000000 0.000000 0.000000 0.000000 0.000175 0.000039 0.000000 0.000175 22 0 0 0 0 0 21 1 0 268192 22864 34264 9924 18746 30690 119782 25628 6294 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 0 0 0 21 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.044 E Glu GAG 0.583 E Glu GAA 0.417 30 255 PASS . . . . . . . . . . . ENSG00000168275:ENST00000366615:exon1:c.G90A:p.E30E . COA6:NM_001206641:exon1:c.G90A:p.E30E . . 0.4 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 170.0 . . . . . . . . . . 0.8630 . . . . . . . . 1.293e-04 . . . 0 0.0001 0 0 0.0003 0.0003 0 0 0 6.216e-05 0 0 0.0002 0.0001 0 0 synonymous_SNV . synonymous_SNV . . . exonic UTR5 exonic . . . @ . . . . . . ENSG00000168275 COA6 COA6 . uc001hwb.3:c.-690G>A . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781144654 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv159229 . . . . . . 0 8.431e-05 0 0 0 4.518e-05 0.0002 0 0 0 6.457e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,252 +rs144709709 1 236201522 C A - NID1 7821 Nidogen 1 NM_002508.2 -1 5883 3744 NP_002499.2 P14543 substitution synonymous exon GRCh37 236201522 236201522 Chr1(GRCh37):g.236201522C>A 1167 1167 NM_002508.2:c.1167G>T p.Thr389= p.Thr389Thr 5 131390 32 3' 83.2018 3.80141 0.36797 4.52487 83.2018 3.80141 0.36797 3.83523 0 Cryptic Acceptor Strongly Activated 236201507 2.29756 0.002889 72.2635 2.63267 0.007606 72.2635 EGF-like calcium-binding Epidermal growth factor-like rs144709709 yes no Frequency/1000G 2 C 0.000000 0 0.000134 0.000000 0.000029 0.000000 0.000000 0.000000 0.000167 0.000504 0.000311 0.000504 37 0 1 0 0 0 21 13 2 276032 23942 34162 10104 18840 30672 126090 25790 6432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 0 1 0 0 0 21 13 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.150 -1.409 T Thr ACG 0.116 T Thr ACT 0.243 389 255 PASS . . . . . . . . . . . . . NID1:NM_002508:exon5:c.G1167T:p.T389T . . 0.54022986 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acT|T389|NID1|mRNA|CODING|NM_002508|NM_002508.ex.5) . . . . . . . 0.9068 . . . . . . . . 1.815e-04 . . . 0 8.917e-05 0 0 0.0005 0.0001 0 0 0 0.0002 0 0 0.0005 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.39 0.29 182 ENSG00000116962 NID1 NID1 . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144709709 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832958 . . . . . . 0 0.0001 3.001e-05 0 0 0.0004 0.0002 0.0002 0 0 0.0001 0 0 0 0.0009 0 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 1 237880551 T G - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution stop gain exon GRCh37 237880551 237880551 Chr1(GRCh37):g.237880551T>G 10377 10377 NM_001035.2:c.10377T>G p.Tyr3459* p.Tyr3459* 72 180902 54 3' 87.056 X.04 0.990237 8.57596 87.056 X.04 0.990237 9.02905 0 transversion T G T>G 1.000 0.690 Y Tyr TAT 0.438 * * TAG 0.234 3459 175 PASS . . . . . . . . . . . . . RYR2:NM_001035:exon72:c.T10377G:p.Y3459X . . 0.10344828 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.992 . @ . . . . . 0 0.444 . . 58.0 . . STOP_GAINED(HIGH|NONSENSE|taT/taG|Y3459*|RYR2|mRNA|CODING|NM_001035|NM_001035.ex.72) . . . . . . . 0.1610 -0.097 0.161 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.088 @ . . . . . . ENSG00000198626 RYR2 RYR2 . . . 0.000 0.057 . . . . . . . Likely_pathogenic . 0 . 0.559 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.507 . . . LowAF 0.04 . . . . . . . . . . . . . XI.16 . . V.34 -1.26 . 0.980000 . . . . . . 0.247 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.155 -0.155000 . . 0.980000 . . 1.0E-175 0.024 0.198 . 0.604 1.000 . 0.051 . 0.194 -0.155 0.991 . . . . . 1 1538 10 1.I 0,0,0 +rs78765904 1 237941906 C A - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237941906 237941906 Chr1(GRCh37):g.237941906C>A 11776-60 11776-60 NM_001035.2:c.11776-60C>A p.? p.? 88 87 180902 -60 3' 91.8703 9.18847 0.879715 4.29011 91.8703 9.18847 0.879715 4.50309 0 Cryptic Donor Strongly Activated 237941907 0.000168 58.5938 1.92889 0.007798 67.508 rs78765904 yes no Frequency/1000G 2 A 0.000000 0 0.009784 0.000000 0.025600 0.000000 0.012900 0.015900 0.007880 0.002750 0.015513 0.006623 0.000000 0.000000 0.012327 0.003727 0.007128 0.015513 244 24 13 2 0 0 185 13 7 30966 8726 838 302 1622 0 15008 3488 982 0.004098 0.000000 0.000000 0.000000 0.000000 0.000000 0.005405 0.000000 0.000000 1 0 0 0 0 0 1 0 0 242 24 13 2 0 0 183 13 7 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C A C>A 0.000 -0.844 255 PASS . 0.01 0.02 . 0.02 . 0.0098 0.016 . 0.013 0.026 . . . . . 0.45238096 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) . . . . . . . -0.0460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0098 . . . 0.2 0.21 182 ENSG00000198626 RYR2 RYR2 . . . . . . 1019 0.0156827 64976 970 0.0161704 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78765904 . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0079 0.0155 0.0066 0 0.0037 0.0123 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs78765904 rs78765904 1 1538 10 1/0 0,255,255 +rs141528541 1 237948286 A G - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237948286 237948286 Chr1(GRCh37):g.237948286A>G 13260+14 13260+14 NM_001035.2:c.13260+14A>G p.? p.? 90 90 180902 14 5' 87.6072 8.55395 0.954471 4.74066 87.6072 8.55395 0.954471 5.06193 0 rs141528541 yes no Frequency/1000G 2 A benign,likely_benign 0.000000 0 0.010783 0.000000 0.038900 0.000000 0.007000 0.013000 0.008639 0.001618 0.005947 0.006006 0.000000 0.021047 0.010142 0.002994 0.010952 0.021047 1620 28 152 52 0 496 785 52 55 187512 17310 25558 8658 12626 23566 77402 17370 5022 0.000160 0.000000 0.000000 0.000231 0.000000 0.000849 0.000078 0.000000 0.000398 15 0 0 1 0 10 3 0 1 1590 28 152 50 0 476 779 52 53 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8111 3737 11848 75 7 82 0.00916198 0.00186966 0.00687343 0.00916198 0.00186966 0.00687343 9 RCV000361643.1|RCV000266981.1|RCV000036677.2|RCV000030411.1 germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing Likely benign|Likely benign|Benign|Benign 1|1|1|0 Cardiomyopathy, ARVC|Catecholaminergic polymorphic ventricular tachycardia|not specified|Cardiomyopathy transition A G A>G 0.000 -0.198 255 PASS . 0.01 0.02 . 0.01 . 0.011 0.013 . 0.007 0.039 . . . . . 0.5344828 . . germline 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.153 . Benign//\%//\@Benign//\%//\@Likely//\@benign//\%//\@Likely//\@benign Benign|Benign|Likely_benign|Likely_benign RCV000030411.1|RCV000036677.2|RCV000266981.1|RCV000361643.1 . MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet|MedGen C0878544:ORPHA167848:85898001|CN169374|C1631597:ORPHA3286|CN239181 2 0.069 . . 58.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0019 0.0069 0.0092 0.0019 0.0069 0.0092 . 0.2688 -0.140 0.269 n . . . . . 6.705e-03 . . . 0.0013 0.0144 0.0141 0 0.0045 0.0134 0.0307 0.0209 0.0012 0.0151 0.0137 0 0.0068 0.0150 0.0309 0.0206 . . . . . . intronic intronic intronic . . 0.113 0.0108 . . . 0.45 0.19 182 ENSG00000198626 RYR2 RYR2 . . . 0.000 0.050 . 607 0.00934191 64976 555 0.00925216 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . 0.178 . . . HET . rs141528541 . 0.014 CLINSIG\x3dunknown|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|AllHighlyPenetrant\x3bCLNACC\x3dRCV000030411.1|RCV000036677.1 CLINSIG\x3dunknown|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000030411.1|RCV000036677.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT|.\x3bCLNDSDBID\x3dC0878544:85898001|. CLINSIG\x3dunknown|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000030411.1|RCV000036677.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0878544:85898001|CN169374 CLINSIG\x3dunknown|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000030411.1|RCV000036677.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0878544:85898001|CN169374 . . . . . . . . . . . . . . . . . 0.006873 . 0.066 . . . 0.0012 0.0093 0.0058 0.0057 0 0.0029 0.0107 0.0119 0.0210 0.0021 0.0055 0.0096 0.0132 0 0.0034 0.0080 0.0071 . . 0.004 . . . . . . . . 1.0E-255 0.000 0.063 . 0.212 0.271 . 0.135 . 0.866 . 1.003 0.02 . . rs141528541 . 1 1538 10 1/0 0,255,255 +. 1 237961297 A ATGGTTG - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 duplication intron GRCh37 237961303 237961304 Chr1(GRCh37):g.237961298_237961303dup 13957-39 13957-34 NM_001035.2:c.13957-39_13957-34dup p.? p.? 97 96 180902 -33 3' 74.7158 7.23061 0.050621 4.52185 74.7158 7.23061 0.050621 5.62941 0 Cryptic Acceptor Strongly Activated 237961307 1.3e-05 68.8557 0.476144 0.000173 67.5615 rs201986107 yes no Frequency/1000G 2 0.009385 TGGTTGTGGTTG 47 0.007555 0.001680 0.005183 0.004491 0.000060 0.018257 0.009296 0.002594 0.009737 0.018257 1842 37 150 42 1 457 1034 64 57 243806 22026 28940 9352 16698 25032 111236 24668 5854 0.000098 0.000000 0.000000 0.000214 0.000000 0.000559 0.000054 0.000000 0.000342 12 0 0 1 0 7 3 0 1 1818 37 150 40 1 443 1028 64 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7761 3574 11335 81 8 89 0.010329 0.00223339 0.00779062 0.010329 0.00223339 0.00779062 54 TGGTTG 255 Pass . 0.01 0.02 . 0.01 . . . . . . . . . . . 0.39240506 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0022 0.0078 0.01 0.0022 0.0078 0.01 . . . . . . . . . . 8.002e-03 . . . 0.0012 0.0094 0.0041 0.0002 0.0034 0.0097 0.0103 0.0217 0.0014 0.0090 0.0040 0 0.0035 0.0092 0.0105 0.0216 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000198626 RYR2 RYR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201986107 . . . . . . . . . . . . . . . . . . . . . . . 0.007789 . . . . . 0.0013 0.0078 0.0050 0.0044 6.633e-05 0.0024 0.0094 0.0103 0.0183 0.0023 0.0057 0.0107 0.0066 0 0.0037 0.0085 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs201986107 rs201986107 1 1538 10 1.I 0,12,41 +rs138333572 1 237972152 T C - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237972152 237972152 Chr1(GRCh37):g.237972152T>C 14299-49 14299-49 NM_001035.2:c.14299-49T>C p.? p.? 100 99 180902 -49 3' 84.4283 8.86811 0.794043 1.50408 84.4283 8.86811 0.794043 1.26762 0 Cryptic Donor Strongly Activated 237972152 4.33849 0.495155 68.3936 5.94271 0.665272 67.6975 rs138333572 yes no Frequency/1000G 2 T 0.000000 0 0.009185 0.000000 0.030700 0.000000 0.007000 0.013000 0.008080 0.001125 0.005266 0.002170 0.000053 0.022609 0.008810 0.004928 0.010873 0.022609 2237 27 181 22 1 694 1115 127 70 276844 24006 34372 10136 18868 30696 126558 25770 6438 0.000144 0.000000 0.000058 0.000197 0.000000 0.000652 0.000111 0.000000 0.000311 20 0 1 1 0 10 7 0 1 2197 27 179 20 1 674 1101 127 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8233 3871 12104 65 3 68 0.00783321 0.000774393 0.00558659 0.00783321 0.000774393 0.00558659 216 transition T C T>C 0.000 0.367 255 PASS . 0.01 0.02 . 0.01 . 0.0092 0.013 . 0.007 0.031 . . . . . 0.52272725 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0008 0.0056 0.0078 0.0008 0.0056 0.0078 . -0.0353 . . . . . . . . 8.922e-03 . . . 0.0005 0.0098 0.0048 0 0.0047 0.0096 0.0099 0.0239 0.0006 0.0090 0.0045 0 0.0057 0.0084 0.0145 0.0238 . . . . . . intronic intronic intronic . . . 0.0092 . . . 0.29 0.2 182 ENSG00000198626 RYR2 RYR2 . . . . . . 467 0.00718727 64976 421 0.0070183 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138333572 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . 0.005587 . . . . . 0.0007 0.0084 0.0051 0.0022 5.798e-05 0.0048 0.0090 0.0114 0.0226 0.0019 0.0054 0.0132 0 0 0.0060 0.0074 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs138333572 rs138333572 1 1538 10 1/0 0,255,255 +rs41267519 1 237972189 A G - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237972189 237972189 Chr1(GRCh37):g.237972189A>G 14299-12 14299-12 NM_001035.2:c.14299-12A>G p.? p.? 100 99 180902 -12 3' 84.4283 8.86811 0.794043 1.50408 84.4283 8.36552 0.72811 I.06 -0.0465694 237972189 -63.5722 rs41267519 yes no Frequency/1000G 2 A benign,likely_benign 0.000000 0 0.009185 0.000000 0.030700 0.000000 0.007000 0.013000 0.008105 0.001125 0.005319 0.002167 0.000053 0.022646 0.008833 0.004926 0.010843 0.022646 2246 27 183 22 1 697 1119 127 70 277124 24000 34406 10152 18868 30778 126682 25782 6456 0.000144 0.000000 0.000058 0.000197 0.000000 0.000650 0.000111 0.000000 0.000310 20 0 1 1 0 10 7 0 1 2206 27 181 20 1 677 1105 127 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8219 3847 12066 65 3 68 0.00784645 0.000779221 0.00560409 0.00784645 0.000779221 0.00560409 298 RCV000332608.1|RCV000277586.1|RCV000036694.3 germline|germline|germline clinical testing|clinical testing|clinical testing Likely benign|Likely benign|Benign 1|1|1 Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy, ARVC|not specified transition A G A>G 0.520 -0.440 255 PASS . 0.01 0.02 . 0.01 . 0.0092 0.013 . 0.007 0.031 . . . . . 0.56363636 . . germline 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign//\%//\@Likely//\@benign//\%//\@Likely//\@benign Benign|Likely_benign|Likely_benign RCV000036694.3|RCV000277586.1|RCV000332608.1 . MedGen|MedGen|MedGen:Orphanet CN169374|CN239181|C1631597:ORPHA3286 2 . . . 55.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0008 0.0056 0.0078 0.0008 0.0056 0.0078 . 0.3286 . . . . . . . . 8.944e-03 . . . 0.0005 0.0098 0.0048 0 0.0047 0.0096 0.0099 0.0239 0.0006 0.0090 0.0045 0 0.0057 0.0084 0.0145 0.0239 . . . . . . intronic intronic intronic . . . 0.0092 . . . 0.32 0.19 182 ENSG00000198626 RYR2 RYR2 . . . . . . 469 0.00721805 64976 423 0.00705165 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41267519 0.011 0.022 . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000036694.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000036694.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000036694.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . 0.0005 0.024 . 0.005604 . . . . . 0.0007 0.0084 0.0051 0.0022 5.798e-05 0.0048 0.0090 0.0113 0.0226 0.0020 0.0054 0.0132 0 0 0.0060 0.0074 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs41267519 rs41267519 rs41267519 rs41267519 1 1538 10 1/0 0,255,255 +rs147311361 1 237991767 T C - RYR2 10484 Ryanodine receptor 2 (cardiac) NM_001035.2 1 16365 14904 NP_001026.2 Q92736 substitution intron GRCh37 237991767 237991767 Chr1(GRCh37):g.237991767T>C 14655+22 14655+22 NM_001035.2:c.14655+22T>C p.? p.? 102 102 180902 22 5' 91.1667 9.84565 0.986956 1.96349 91.1667 9.84565 0.986956 2.44372 0 rs147311361 yes no Frequency/1000G 2 T 0.000000 0 0.009385 0.000000 0.030700 0.000000 0.008000 0.013000 0.008211 0.001152 0.006587 0.002808 0.000000 0.021778 0.008963 0.005128 0.010587 0.021778 1549 20 162 24 0 489 695 106 53 188640 17356 24594 8546 12472 22454 77542 20670 5006 0.000148 0.000000 0.000000 0.000234 0.000000 0.000802 0.000077 0.000000 0.000400 14 0 0 1 0 9 3 0 1 1521 20 162 22 0 471 689 106 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8131 3789 11920 59 3 62 0.00720391 0.000791139 0.00517443 0.00720391 0.000791139 0.00517443 99 transition T C T>C 0.000 0.044 255 PASS . 0.01 0.02 . 0.01 . 0.0094 0.013 . 0.008 0.031 . . . . . 0.61904764 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|) 0.0008 0.0052 0.0072 0.0008 0.0052 0.0072 . 0.2060 . . . . . . . . 6.259e-03 . . . 0.0004 0.0134 0.0106 0 0.0152 0.0105 0.0136 0.0237 0.0005 0.0147 0.0094 0 0.0088 0.0120 0.0152 0.0236 . . . . . . intronic intronic intronic . . . 0.0094 . . . 0.28 0.28 182 ENSG00000198626 RYR2 RYR2 . . . . . . 482 0.00741812 64976 435 0.00725169 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147311361 0.011 0.022 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv193e1 0.005174 . . . . . 0.0005 0.0087 0.0063 0.0029 0 0.0049 0.0091 0.0112 0.0218 0.0018 0.0058 0.0143 0 0 0.0060 0.0082 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs147311361 rs147311361 1 1538 10 1/0 0,255,255 +rs41310589 1 241846828 C T - WDR64 26570 WD repeat domain 64 NM_144625.4 1 4371 3246 NP_653226.4 B1ANS9 substitution synonymous exon GRCh37 241846828 241846828 Chr1(GRCh37):g.241846828C>T 634 634 NM_144625.4:c.634C>T p.Leu212= p.Leu212Leu 6 40 3' 92.8835 9.0774 0.972972 9.74681 92.8835 9.0774 0.972972 9.52756 0 rs41310589 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.004451 0.001083 0.001914 0.003058 0.000000 0.000171 0.008759 0.002238 0.004187 0.008759 677 16 37 21 0 3 542 41 17 152110 14780 19330 6868 9372 17496 61882 18322 4060 0.000026 0.000000 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 2 0 0 0 0 0 2 0 0 146 9 1 0 0 0 122 6 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 2.223 L Leu CTG 0.404 L Leu TTG 0.127 212 255 PASS . 0.0014 . . 0.004 . 0.0008 . . 0.004 . . . WDR64:NM_144625:exon6:c.C634T:p.L212L . . 0.5625 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L212|WDR64|mRNA|CODING|NM_144625|NM_144625.ex.6) . . . . . . . 1.1789 . . . . . . . . . . . . 0.0010 0.0033 0 0 0.0263 0.0069 0 0.0001 0.0007 0.0022 0 0 0.0037 0.0056 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.39 0.44 182 ENSG00000162843 WDR64 WDR64 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41310589 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . 4.III 0.0011 0.0044 0.0019 0.0032 0 0.0023 0.0089 0.0029 0.0002 0.0010 0.0048 0.0013 0 0 0.0019 0.0082 0.0083 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs41310589 rs41310589 rs41310589 rs41310589 1 1538 10 1/0 0,255,255 +rs750583860 1 242121429 T C - BECN2 38606 Beclin 2 NM_001290693.1 1 1296 1296 NP_001277622.1 A8MW95 substitution missense exon GRCh37 242121429 242121429 Chr1(GRCh37):g.242121429T>C 361 361 NM_001290693.1:c.361T>C p.Cys121Arg p.Cys121Arg 1 615687 rs750583860 no no 0 T 0.000000 0 transition T C T>C 1.000 3.676 C Cys TGC 0.552 R Arg CGC 0.190 121 -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 255 PASS . . . . . . . . . . . . . BECN2:NM_001290693:exon1:c.T361C:p.C121R . . 0.55185187 . . @ 149 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 270.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C121R|BECN2|mRNA|CODING|NM_001290693|NM_001290693.ex.1) . . . . . . . I.90 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . ncRNA_exonic intergenic exonic . . . @ . . . . . . ENSG00000196289 . BECN2 . dist\x3d68188\x3bdist\x3d37363 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs750583860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,233 +rs566344327 1 243220134 G A - LINC01347 50566 Long intergenic non-protein coding RNA 1347 NR_029401.1 -1 3834 0 substitution exon GRCh37 243220134 243220134 Chr1(GRCh37):g.243220134G>A 3316 3316 NR_029401.1:n.3316C>T 18 439 3' 81.3722 4.00422 0.640215 0 81.3722 4.00422 0.640215 0 0 Cryptic Acceptor Strongly Activated 243220125 0.26962 0.022736 76.4308 0.833161 0.038756 79.1426 rs566344327 yes no Frequency 1 0.000000 0 0.001887 0.000000 0.000000 0.000000 0.000000 0.000000 0.001013 0.011162 0.004124 0.011162 58 0 0 0 0 0 15 39 4 30732 8732 828 286 1620 0 14802 3494 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 0 0 0 0 0 15 39 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.650 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5116279 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H1106Y|LINC01347|Non-coding_transcript|NON_CODING|NR_029401|NR_029401.ex.18) . . . . . . . -0.2252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000253326 LOC731275 LINC01347 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs566344327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0019 0 0 0 0.0112 0.0010 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2631166 1 243328208 G A - CEP170 28920 Centrosomal protein 170kDa NM_014812.2 -1 7184 4755 NP_055627.2 Q5SW79 substitution synonymous exon GRCh37 243328208 243328208 Chr1(GRCh37):g.243328208G>A 3054 3054 NM_014812.2:c.3054C>T p.Pro1018= p.Pro1018Pro 13 613023 -623 5' 87.8485 8.76378 0.963888 3.33553 87.8485 8.76378 0.963888 3.33553 0 rs2631166 yes no Frequency 1 A 0.000000 0 0.000234 0.000456 0.000000 0.000220 0.000164 0.000070 0.000270 0.000367 0.000496 0.000456 61 10 0 2 3 2 32 9 3 260768 21912 33734 9096 18332 28506 118588 24550 6050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 10 0 2 3 2 32 9 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424486|COSM5424486|COSM5424486 Large intestine|Haematopoietic and lymphoid tissue|Central nervous system 0.000896|0.001695|0.000416 2231|3540|2405 transition C T C>T 0.984 -0.198 P Pro CCC 0.328 P Pro CCT 0.283 1018 243 PASS . . . . . . . . . . . . . . . . 0.2820513 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . -0.6856 . . . . . . . . 2.690e-03 . . . 0.0006 0.0019 0.0003 0.0004 0 0.0010 0.0015 0.0074 0.0006 0.0016 0.0003 0.0004 0 0.0007 0.0015 0.0074 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.61 0.31 182 ENSG00000143702 CEP170 CEP170 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2631166 . . . . . . . . . . . . III.32 . ENST00000336415 V.15 II.86 . 0.200000 . . . . . . . . . II.86 0 5.068e-05 0 0.0002 0 0.0002 2.797e-05 0.0002 7.016e-05 0.0015 0.0020 0 0 0.0026 0.0016 0.0026 0.0026 . . . . 0.296 0.296000 . . 0.200000 . . 1.0E-243 . . . . . . . . . 0.296 . . rs2631166 rs2631166 rs2631166 rs2631166 1 1538 10 1/0 0,223,255 +rs372623014 1 243354503 A G - CEP170 28920 Centrosomal protein 170kDa NM_014812.2 -1 7184 4755 NP_055627.2 Q5SW79 substitution missense exon GRCh37 243354503 243354503 Chr1(GRCh37):g.243354503A>G 925 925 NM_014812.2:c.925T>C p.Ser309Pro p.Ser309Pro 8 613023 -184 5' 82.523 9.06409 0.604928 0 82.523 9.06409 0.604928 0 0 rs372623014 yes no Frequency 1 A 0.000000 0 0.000117 0.000090 0.000000 0.000000 0.000000 0.000036 0.000218 0.000000 0.000333 0.000218 29 2 0 0 0 1 24 0 2 248718 22304 31352 9614 17208 27538 110316 24374 6012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 2 0 0 0 1 24 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8097 3607 11704 1 1 2 0.000123487 0.000277162 0.000170853 0.000123487 0.000277162 0.000170853 40 transition T C T>C 1.000 1.900 S Ser TCC 0.220 P Pro CCC 0.328 309 11 9 Frog -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 73.35 0.00 Tolerated 0.38 III.50 good 7.088E-1 0.004396 255 PASS . . . . . . . . . . . . . . . . 0.3908046 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.311 . @ . . . . . 1 0.473 . . 87.0 . . . 0.0003 0.0002 0.0001 0.0003 0.0002 0.0001 . -0.3043 -0.097 -0.304 c . . . . . 1.364e-04 . . . 0.0001 0.0001 0 0 0 0.0002 0 8.708e-05 0.0002 0.0002 0 0 0 0.0003 0 8.761e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.260 . . exonic exonic exonic . . 0.638 @ . . . 0.65 0.35 182 ENSG00000143702 CEP170 CEP170 . . . 0.573 0.215 . . . . . . . Uncertain_significance . 0 . 0.486 . . . . T 0.217 0.008 . . 37 . 0.152 . . 0.106 . . . 0.254 0.422 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.030 . . 0 0 0 0 0 0 . 0.135 . . 0.179 . . . . . . 0 0.122 . . . . . 0.403 . 0.331 . HET 0.23 rs372623014 . . . . . . . . . . . . IX.02 3.44E-4 . IV.91 IV.91 . 0.350000 . . . . 0.000171 . 0.387 . . IV.91 7.328e-05 0.0001 0 0 0 0 0.0002 0.0004 3.631e-05 0.0001 9.799e-05 0 0 0 0 0.0001 0 . . 0.924 . 1.853 1.853000 . . 0.350000 . . 1.0E-255 0.999 0.424 . 0.888 1.000 . 0.365 . 0.911 1.853 1.062 0.0003 . . rs372623014 . 1 1538 10 1/0 0,255,255 +rs190757556 1 245809373 G A - KIF26B 25484 Kinesin family member 26B NM_018012.4 1 13593 6327 NP_060482.2 Q2KJY2 substitution intron GRCh37 245809373 245809373 Chr1(GRCh37):g.245809373G>A 2099-50 2099-50 NM_018012.4:c.2099-50G>A p.? p.? 10 9 614026 -50 3' 70.0835 6.10012 0.21932 8.01236 70.0835 6.10012 0.21932 7.88271 0 Cryptic Acceptor Strongly Activated 245809384 0.000733 1.37624 0.000383 76.1126 rs190757556 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.003100 0.001000 0.007000 0.000000 0.004548 0.000462 0.000634 0.001633 0.000000 0.002208 0.006083 0.013312 0.005660 0.013312 1204 11 21 15 0 62 740 320 35 264750 23784 33110 9186 18716 28078 121654 24038 6184 0.000060 0.000000 0.000000 0.000000 0.000000 0.000000 0.000082 0.000250 0.000000 8 0 0 0 0 0 5 3 0 1188 11 21 15 0 62 730 314 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8209 3806 12015 45 2 47 0.0054519 0.00052521 0.00389653 0.0054519 0.00052521 0.00389653 30 transition G A G>A 0.000 -0.279 255 PASS . 0.0023 . . 0.01 . 0.0022 . 0.001 0.007 0.0031 . . . . . 0.5576923 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . INTRON(MODIFIER||||KIF26B|mRNA|CODING|NM_018012|) 0.0005 0.0039 0.0055 0.0005 0.0039 0.0055 . 0.5769 . . . . . . . . 4.762e-03 . . . 0.0006 0.0034 0.0005 0 0.0130 0.0046 0.0044 0.0025 0.0007 0.0047 0.0005 0 0.0146 0.0063 0.0060 0.0025 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.65 0.63 182 ENSG00000162849 KIF26B KIF26B . . . . . . 264 0.00406304 64976 253 0.00421765 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190757556 . . . . . . . . . . . . . . . . . . . . . . . 0.003897 . . . . . 0.0005 0.0043 0.0006 0.0017 0 0.0138 0.0056 0.0046 0.0022 0.0003 0.0064 0.0012 0 0 0.0106 0.0097 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190757556 rs190757556 1 1538 10 1/0 0,255,255 +rs145616559 1 247016298 A C - AHCTF1 24618 AT-hook containing transcription factor 1 NM_015446.4 -1 8633 6828 NP_056261.4 substitution intron GRCh37 247016298 247016298 Chr1(GRCh37):g.247016298A>C 4590+95 4590+95 NM_015446.4:c.4590+95T>G p.? p.? 32 32 610853 95 5' 69.9046 0 0.156394 0 69.9046 0 0.156394 0 0 New Acceptor Site 247016297 3.77587 0.010679 65.9641 rs145616559 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.005000 0.002900 0.004809 0.001488 0.002387 0.000000 0.000000 0.000000 0.008390 0.000861 0.005092 0.008390 149 13 2 0 0 0 126 3 5 30984 8736 838 302 1622 0 15018 3486 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 149 13 2 0 0 0 126 3 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T G T>G 0.000 -0.602 255 PASS . 0.0018 0.0028 . 0.004 . 0.0018 0.0029 . 0.005 0.002 . . . . . 0.75 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||AHCTF1|mRNA|CODING|NM_015446|) . . . . . . . -0.0396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.18 0.08 182 ENSG00000153207 AHCTF1 AHCTF1 . . . . . . 331 0.00509419 64976 323 0.00538459 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs145616559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0048 0.0024 0 0 0.0009 0.0084 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs145616559 rs145616559 1 1538 10 1/0 0,255,255 +rs753302170 1 247062666 A G - AHCTF1 24618 AT-hook containing transcription factor 1 NM_015446.4 -1 8633 6828 NP_056261.4 substitution intron GRCh37 247062666 247062666 Chr1(GRCh37):g.247062666A>G 1521+87 1521+87 NM_015446.4:c.1521+87T>C p.? p.? 11 11 610853 87 5' 86.8647 IX.15 0.979204 0 86.8647 IX.15 0.979204 0 0 rs753302170 yes no Frequency 1 A 0.000000 0 0.000904 0.000458 0.000000 0.000000 0.000000 0.000000 0.001599 0.000000 0.000000 0.001599 28 4 0 0 0 0 24 0 0 30984 8734 838 302 1622 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 4 0 0 0 0 24 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.5151515 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||AHCTF1|mRNA|CODING|NM_015446|) . . . . . . . 0.2051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000153207 AHCTF1 AHCTF1 . . . . . . 48 0.000738734 64976 48 0.000800187 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs753302170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0009 0 0 0 0 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs61857491 1 248084798 C T - OR2T8 15020 Olfactory receptor, family 2, subfamily T, member 8 NM_001005522.1 1 939 939 NP_001005522.1 A6NH00 substitution missense exon GRCh37 248084798 248084798 Chr1(GRCh37):g.248084798C>T 479 479 NM_001005522.1:c.479C>T p.Ala160Val p.Ala160Val 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs61857491 yes no Frequency 1 C 0.000000 0 0.002520 0.020934 0.001529 0.006812 0.001091 0.000785 0.000906 0.000750 0.003756 0.020934 554 285 47 60 18 22 88 15 19 219834 13614 30736 8808 16498 28014 97118 19988 5058 0.000055 0.000735 0.000000 0.000000 0.000000 0.000000 0.000021 0.000000 0.000000 6 5 0 0 0 0 1 0 0 542 275 47 60 18 22 86 15 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3677633|COSM3677633 Pancreas|Haematopoietic and lymphoid tissue 0.000569|0.000283 1758|3530 transition C T C>T 0.000 -0.440 A Ala GCT 0.263 V Val GTT 0.178 160 10 9 Armadillo 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 65.28 0.00 Tolerated 0.2 III.87 good 7.453E-2 0.007273 255 PASS . . . . . . . . . . . ENSG00000177462:ENST00000319968:exon1:c.C479T:p.A160V OR2T8:uc010pzc.2:exon1:c.C479T:p.A160V OR2T8:NM_001005522:exon1:c.C479T:p.A160V . . 0.3888889 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.004 . . 18.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A160V|OR2T8|mRNA|CODING|NM_001005522|NM_001005522.ex.1) . . . . . . . -1.3606 -1.375 -1.361 c . . . . . 3.036e-03 . . . 0.0060 0.0030 0.0035 0.0009 0.0005 0.0031 0.0050 0.0022 0.0054 0.0026 0.0036 0.0011 0.0021 0.0025 0.0027 0.0021 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.106 @ . . . 0.09 0.05 182 ENSG00000177462 OR2T8 OR2T8 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.075 . . . . T 0.010 0.001 . . 37 . 0.001 . . 0.257 . . . 0.039 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.162 . . . . . . 0 0.026 . . . . . 0.018 . 0.166 . HET 0.87 rs61857491 . . . . . . . . . . . . I.13 8.27E-4 ENST00000319968 III.56 -0.703 . 0.970000 A6NH00 . . . . . 0.019 . . . 0.0199 0.0023 0.0015 0.0069 0.0011 0.0007 0.0009 0.0037 0.0008 0.0273 0.0086 0.0068 0 0 0.0015 0.0019 0.0039 . . 0.133 . -0.059 -0.059000 . . 0.970000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.013 . 0.110 -0.059 -0.501 . rs61857491 rs61857491 rs61857491 rs61857491 1 1538 10 1/0 0,255,255 +rs61856417 1 248247237 C A - OR2L13 19578 Olfactory receptor, family 2, subfamily L, member 13 NM_001304535.1 1 1921 939 NP_001291464.1 Q8N349 substitution intron GRCh37 248247237 248247237 Chr1(GRCh37):g.248247237C>A -15441 -15441 NM_001304535.1:c.-18-15423C>A p.? p.? 2 1 -15423 3' 86.1141 9.1252 0.953637 6.11959 86.1141 9.1252 0.953637 6.11959 0 rs61856417 no no 0 C 0.000000 0 0.003135 0.004783 0.000000 0.000000 0.002703 0.000000 0.002448 0.003327 0.001185 0.004783 85 39 0 0 4 0 31 10 1 27116 8154 702 268 1480 0 12662 3006 844 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 39 0 0 4 0 31 10 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion C A C>A 0.000 -0.924 244 PASS . . . . . . . . . . . . . . . . 0.28712872 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . -0.4095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.21 0.13 182 ENSG00000197067 OR2L13 OR2L13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61856417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0031 0 0 0.0027 0.0033 0.0024 0.0012 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs61856417 rs61856417 rs61856417 rs111275277 1 1538 10 1/0 0,240,255 +rs147622615 1 249208343 A G - PGBD2 19399 PiggyBac transposable element derived 2 NM_170725.2 1 2709 1779 NP_733843.1 Q6P3X8 substitution intron GRCh37 249208343 249208343 Chr1(GRCh37):g.249208343A>G 17+265 17+265 NM_170725.2:c.17+265A>G p.? p.? 2 2 265 5' 84.5905 9.78584 0.947046 1.64492 84.5905 9.78584 0.947046 1.64492 0 rs147622615 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.006425 0.001490 0.003580 0.013333 0.000000 0.000000 0.010592 0.004293 0.005092 0.013333 199 13 3 4 0 0 159 15 5 30972 8724 838 300 1622 0 15012 3494 982 0.015075 0.000000 0.000000 0.000000 0.000000 0.000000 0.018868 0.000000 0.000000 3 0 0 0 0 0 3 0 0 193 13 3 4 0 0 153 15 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition A G A>G 0.000 -1.812 255 PASS . 0.0018 0.0028 . 0.004 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.4390244 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.4467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.38 0.43 182 ENSG00000185220 PGBD2 PGBD2 . . . . . . 294 0.00452475 64976 287 0.00478445 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147622615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0064 0.0036 0.0133 0 0.0043 0.0106 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs147622615 rs147622615 1 1538 10 1/0 0,255,255 +rs190616122 2 275091 A G - ACP1 122 Acid phosphatase 1, soluble NM_004300.3 1 1552 477 NP_004291.1 P24666 substitution intron GRCh37 275091 275091 Chr2(GRCh37):g.275091A>G 232-49 232-49 NM_004300.3:c.232-49A>G p.? p.? 4 3 171500 -49 3' 81.2554 9.88847 0.912 4.53204 81.2554 9.88847 0.912 4.72327 0 rs190616122 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.002819 0.000601 0.001478 0.000477 0.000000 0.000140 0.004872 0.001646 0.001777 0.004872 652 13 33 4 0 3 550 40 9 231292 21618 22320 8392 15224 21482 112884 24308 5064 0.000035 0.000000 0.000000 0.000238 0.000000 0.000000 0.000053 0.000000 0.000000 4 0 0 1 0 0 3 0 0 644 13 33 2 0 3 544 40 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8556 4398 12954 36 4 40 0.00418994 0.000908678 0.00307834 0.00418994 0.000908678 0.00307834 63 transition A G A>G 0.000 0.125 255 PASS . 0.0027 0.01 . 0.01 . 0.0014 0.0029 . 0.005 . . . . . . 0.6923077 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . 0.0009 0.0031 0.0042 0.0009 0.0031 0.0042 . 0.1476 . . . . . . . . 2.677e-03 . . . 0.0003 0.0025 0.0019 0 0.0022 0.0045 0.0014 0.0002 0.0002 0.0026 0.0019 0 0.0018 0.0043 0.0029 0.0002 . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.45 0.1 182 ENSG00000143727 ACP1 ACP1 . . . . . . 245 0.00377062 64976 238 0.00396759 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs190616122 . . . . . . . . . . . . . . . . . . . . . . . 0.003078 . . . . . 0.0005 0.0027 0.0015 0.0005 0 0.0016 0.0045 0.0017 0.0001 0.0007 0.0039 0.0012 0 0 0.0017 0.0071 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190616122 rs190616122 1 1538 10 1/0 0,255,255 +rs149085075 2 672826 G A - TMEM18 25257 Transmembrane protein 18 NM_001352681.1 -1 6200 432 NP_001339610.1 substitution missense exon GRCh37 672826 672826 Chr2(GRCh37):g.672826G>A 224 224 NM_001352681.1:c.224C>T p.Ala75Val p.Ala75Val 3 613220 -19 5' 86.8044 8.70331 0.992666 5.99538 86.8044 8.70331 0.992666 5.30177 0 Cryptic Donor Strongly Activated 672828 63.4238 1.40282 0.244871 69.8063 rs149085075 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000753 0.000163 0.000083 0.000313 0.000000 0.000000 0.001289 0.000377 0.000255 0.001289 143 3 1 2 0 0 127 9 1 189846 18436 12068 6394 9098 17546 98512 23870 3922 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 1 0 0 0 0 0 1 0 0 141 3 1 2 0 0 125 9 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 61 transition C T C>T 1.000 1.013 A Ala GCG 0.107 V Val GTG 0.468 75 12 3 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 251.02 0.00 Tolerated 0.57 III.27 255 PASS . . . . . . 0.0002 . . 0.001 . . TMEM18:uc002qwl.3:exon3:c.C215T:p.A72V TMEM18:NM_152834:exon3:c.C215T:p.A72V . . 0.5 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.098 . @ . . . . . 1 0.068 . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A72V|TMEM18|mRNA|CODING|NM_152834|NM_152834.ex.3) . 0.0004 0.0006 . 0.0004 0.0006 . -1.2977 -1.060 -1.298 c . . . . . 5.446e-04 . . . 0.0002 0.0004 8.697e-05 0 0.0005 0.0007 0 0 0.0001 0.0005 8.967e-05 0 0.0005 0.0008 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.193 0.0002 . . . 0.31 0.54 182 ENSG00000151353 TMEM18 TMEM18 . . . 1.000 0.434 . 25 0.000384757 64976 24 0.000400093 59986 Uncertain_significance . 0 . 0.251 . . . . T 0.099 0.004 . . 37 . 0.052 . . 0.411 . . . 0.002 0.227 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . 0.112 . . 0.013 . . . . . . 0 0.030 . . . . . 0.240 . 0.112 . HET 0.52 rs149085075 . . . . . . . . . . . . 7.0295 0.0 . 5.XII 1.VI . 0.660000 Q96B42 . . . 0.000384 . 0.117 . . . 0.0002 0.0006 8.905e-05 0.0003 0 0.0003 0.0010 0.0003 0 0.0001 0.0014 0 0 0 0.0006 0.0027 0 . . 0.924 . 0.058 0.058000 . . 0.660000 . . 1.0E-255 0.982 0.353 . 0.016 0.866 . 0.475 . 0.032 0.058 0.045 0.0006 . . rs149085075 rs149085075 1 1538 10 1/0 0,255,255 +rs112481627 (chr2:905567 T/G) 2 905567 T G Not on a known gene +rs28716017 (chr2:905595 G/C) 2 905595 G C Not on a known gene +rs113734895 (chr2:905651 T/G) 2 905651 T G Not on a known gene +rs74861779 (chr2:905693 T/G) 2 905693 T G Not on a known gene +rs71337696 (chr2:905763 G/C) 2 905763 G C Not on a known gene +rs71337697 (chr2:905777 T/G) 2 905777 T G Not on a known gene +rs368624435 (chr2:905788 C/G) 2 905788 C G Not on a known gene +rs780365366 (chr2:905789 C/G) 2 905789 C G Not on a known gene +rs13403699 (chr2:905819 T/G) 2 905819 T G Not on a known gene +rs778938671 (chr2:905872 G/C) 2 905872 G C Not on a known gene +. (chr2:3579820 G/A) 2 3579820 G A Not on a known gene +. (chr2:4672687 ATAAT/A) 2 4672687 ATAAT A Not on a known gene +. 2 10762302 TA T - NOL10 25862 Nucleolar protein 10 NM_024894.3 -1 3498 2067 NP_079170.2 Q9BSC4 deletion intron GRCh37 10762303 10762303 Chr2(GRCh37):g.10762303del 1027-14866 1027-14866 NM_024894.3:c.1027-14866del p.? p.? 14 13 616197 -14866 3' 67.9066 5.23111 0.05507 2.28078 67.9066 5.23111 0.05507 2.28078 0 Cryptic Donor Strongly Activated 10762306 2.9e-05 46.4905 1.03031 0.02634 61.6002 rs70953325 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999983 0.999935 1.000000 1.000000 1.000000 1.000000 0.999970 1.000000 1.000000 1.000000 175523 15387 24692 8422 11746 22592 67714 20194 4776 175526 15388 24692 8422 11746 22592 67716 20194 4776 0.999966 0.999870 1.000000 1.000000 1.000000 1.000000 0.999941 1.000000 1.000000 87760 7693 12346 4211 5873 11296 33856 10097 2388 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes T 255 Pass 0.99 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.9756098 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000115761 NOL10 NOL10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs70953325 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs70953325 rs70953325 1 1538 255 1.I 0,0,255 +rs78862800 2 18768164 A G - NT5C1B 17818 5'-nucleotidase, cytosolic IB NM_001199087.1 -1 2921 1884 NP_001186016.1 substitution intron GRCh37 18768164 18768164 Chr2(GRCh37):g.18768164A>G 351+45 351+45 NM_001199087.1:c.351+45T>C p.? p.? 3 3 610526 45 5' 77.5301 6.74457 0.925788 3.99246 77.5301 6.74457 0.925788 4.23355 0 rs78862800 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.002000 0.000000 0.009900 0.004300 0.004497 0.001011 0.004080 0.004070 0.000000 0.001027 0.005941 0.008536 0.005633 0.008536 1064 21 124 37 0 27 616 206 33 236594 20762 30392 9090 16378 26302 103678 24134 5858 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000341 3 0 0 0 0 0 2 0 1 1058 21 124 37 0 27 612 206 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 0.044 255 PASS . 0.0032 0.0028 . 0.01 . 0.003 0.0043 . 0.0099 0.002 . . . . . 0.5185185 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1097 . . . . . . . . 3.779e-03 . . . 0.0010 0.0046 0.0035 0 0.0086 0.0073 0.0090 0.0011 0.0009 0.0051 0.0039 0 0.0091 0.0073 0.0146 0.0011 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.36 0.1 182 . . . . . . . . . 290 0.00446319 64976 275 0.0045844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78862800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0045 0.0041 0.0040 0 0.0085 0.0060 0.0057 0.0010 0.0014 0.0044 0.0048 0.0066 0 0.0086 0.0055 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs78862800 rs78862800 1 1538 10 1/0 0,255,255 +rs78862800 2 18768164 A G - NT5C1B-RDH14 38831 NT5C1B-RDH14 readthrough NM_001199103.1 -1 2533 1953 NP_001186032.1 substitution intron GRCh37 18768164 18768164 Chr2(GRCh37):g.18768164A>G 121-507 121-507 NM_001199103.1:c.121-507T>C p.? p.? 3 2 -507 3' 91.3415 9.75495 0.967792 9.06118 91.3415 9.75495 0.967792 9.06118 0 rs78862800 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.002000 0.000000 0.009900 0.004300 0.004497 0.001011 0.004080 0.004070 0.000000 0.001027 0.005941 0.008536 0.005633 0.008536 1064 21 124 37 0 27 616 206 33 236594 20762 30392 9090 16378 26302 103678 24134 5858 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000341 3 0 0 0 0 0 2 0 1 1058 21 124 37 0 27 612 206 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 0.044 255 PASS . 0.0032 0.0028 . 0.01 . 0.003 0.0043 . 0.0099 0.002 . . . . . 0.5185185 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1097 . . . . . . . . 3.779e-03 . . . 0.0010 0.0046 0.0035 0 0.0086 0.0073 0.0090 0.0011 0.0009 0.0051 0.0039 0 0.0091 0.0073 0.0146 0.0011 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.36 0.1 182 . . . . . . . . . 290 0.00446319 64976 275 0.0045844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78862800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0045 0.0041 0.0040 0 0.0085 0.0060 0.0057 0.0010 0.0014 0.0044 0.0048 0.0066 0 0.0086 0.0055 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs78862800 rs78862800 1 1538 10 1/0 0,255,255 +rs140804905 2 24426581 G A - ITSN2 6184 Intersectin 2 NM_006277.2 -1 6112 5094 NP_006268.2 Q9NZM3 substitution missense exon GRCh37 24426581 24426581 Chr2(GRCh37):g.24426581G>A 5008 5008 NM_006277.2:c.5008C>T p.Arg1670Cys p.Arg1670Cys 40 604464 72 3' 86.5504 7.84751 0.708797 VIII.46 86.5504 7.84751 0.708797 8.53367 0 C2 domain rs140804905 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.002300 0.000000 0.000000 0.001000 0.000000 0.000281 0.000375 0.000087 0.000000 0.000000 0.000000 0.000387 0.000620 0.000155 0.000620 78 9 3 0 0 0 49 16 1 277146 24020 34418 10144 18858 30778 126672 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 78 9 3 0 0 0 49 16 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4404 13000 4 2 6 0.000465116 0.000453926 0.000461326 0.000465116 0.000453926 0.000461326 83 transition C T C>T 1.000 2.385 R Arg CGC 0.190 C Cys TGC 0.552 1670 13 7 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 III.69 bad 4.413E-5 0.0002002 255 PASS 0.01 0.0023 . . 0.0013 0.0023 0.0008 . . 0.001 . . . . . . 0.44230768 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.770 . @ . . . . . 1 0.861 . . 52.0 . . . 0.0005 0.0005 0.0005 0.0005 0.0005 0.0005 . 0.6426 0.635 0.643 c . . . . . 2.999e-04 . . . 0.0006 0.0002 0 0 0.0016 0.0002 0 0 0.0007 0.0003 0 0 0.0011 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.546 0.0008 . . . 0.62 0.49 182 ENSG00000198399 ITSN2 ITSN2 . . . 0.998 0.366 . 26 0.000400148 64976 22 0.000366752 59986 Uncertain_significance . 0 . 0.155 . . . . D 0.674 0.058 . . 37 . 0.683 . . 0.725 . . . 0.526 0.530 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.814 . . 0 0 0 0 0 0 . 0.899 . . 0.656 . . . . . . 0 0.912 . . . . . 0.521 . 0.625 . HET 0 rs140804905 . . . . . . . 0.0022893772893772895 0.008130081300813009 0.0 0.0 0.0013192612137203166 11.956 5.35E-4 . V.46 IV.52 . 0.000000 . . . . 0.000461 . 0.431 . . IV.52 0.0003 0.0003 8.934e-05 0 0 0.0006 0.0004 0 0 0.0005 0.0005 0 0 0 0.0009 0.0004 0.0010 . . 0.730 . 2.735 2.735000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.494 0.162 . 0.604 . 0.652 2.735 -0.136 0.01 . . rs140804905 rs140804905 1 1538 10 1/0 0,255,255 +rs372342156 2 25064175 G A - ADCY3 234 Adenylate cyclase 3 NM_001320613.1 -1 4733 3438 NP_001307542.1 substitution synonymous exon GRCh37 25064175 25064175 Chr2(GRCh37):g.25064175G>A 1149 1149 NM_001320613.1:c.1149C>T p.His383= p.His383His 6 600291 -48 5' 78.1779 9.63223 0.873032 X.99 78.1779 9.63223 0.873032 9.95466 0 rs372342156 no no 0 G 0.000000 0 0.000018 0.000051 0.000070 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000070 4 1 2 0 0 0 1 0 0 223554 19658 28496 9140 15520 25758 98516 20984 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 0.044 H His CAC 0.587 H His CAT 0.413 383 255 PASS . . . . . . . . . . . . . ADCY3:NM_004036:exon5:c.C1149T:p.H383H . . 0.46875 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H383|ADCY3|mRNA|CODING|NM_004036|NM_004036.ex.5) . . . . . . . I.56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000138031 ADCY3 ADCY3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372342156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.139e-05 1.557e-05 7.231e-05 0 0 0 0 0 0 0 3.234e-05 0 0 0 0 6.678e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372342156 rs372342156 1 1538 10 1/0 0,255,255 +rs1465878 (chr2:26203678 T/C) 2 26203678 T C Transcript NM_002254.6: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIF3C +rs142284613 2 26689619 T A - OTOF 8515 Otoferlin NM_001287489.1 -1 6958 5994 NP_001274418.1 Q9HC10 substitution missense exon GRCh37 26689619 26689619 Chr2(GRCh37):g.26689619T>A 4463 4463 NM_001287489.1:c.4463A>T p.Asp1488Val p.Asp1488Val 36 603681 -38 5' 81.348 7.62374 0.74218 6.24175 81.348 7.62374 0.74218 V.08 0 C2 domain rs142284613 yes no Frequency/1000G 2 T uncertain_significance 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.000693 0.000250 0.001395 0.000000 0.000000 0.000000 0.001058 0.000000 0.000619 0.001395 192 6 48 0 0 0 134 0 4 277192 24022 34420 10152 18860 30782 126702 25792 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 192 6 48 0 0 0 134 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4406 12988 18 0 18 0.00209302 0 0.00138398 0.00209302 0 0.00138398 91 RCV000041544.3 germline clinical testing VUS 1 not specified COSM5354480 Large intestine 0.001772 2257 transversion A T A>T 1.000 4.725 D Asp GAC 0.539 V Val GTC 0.240 1488 12 9 Zebrafish -3 -3 -6 I.38 0 13 5.IX 54 84 152 C0 353.86 0.00 Deleterious 0.01 III.52 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0008 0.0014 . 0.003 . . . . . . 0.44131455 . . germline 94 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.884 . Uncertain//\@significance Uncertain_significance RCV000041544.3 not_specified MedGen CN169374 1 0.641 . . 213.0 . . . . 0.0014 0.0021 . 0.0014 0.0021 . 0.4963 0.503 0.496 c . . . . . 6.709e-04 . . . 0.0003 0.0009 0.0017 0 0 0.0013 0 0 0.0003 0.0007 0.0017 0 0 0.0009 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.801 . . exonic exonic exonic . . 0.640 0.0008 . . . 0.5 0.43 182 ENSG00000115155 OTOF OTOF . . . 1.000 0.747 . 40 0.000615612 64976 36 0.00060014 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.892 0.251 . . 37 . 0.847 . . 0.813 . . . 0.681 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.897 . . 0 0 0 0 1 0 . 0.764 . . 0.715 . . . . . . 0 0.253 . . . . . 0.672 . 0.845 . HET 0.01 rs142284613 . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000041544.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000041544.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000041544.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 14.5128 0.0 . IV.92 IV.92 . 0.710000 . . . . 0.001384 . 0.842 . . IV.92 0.0003 0.0007 0.0014 0 0 0 0.0010 0.0007 0 0.0001 0.0006 0.0012 0 0 0 0.0011 0 . . 0.246 . 1.984 1.984000 . . 0.710000 . . 1.0E-255 1.000 0.715 . 0.625 1.000 . 0.712 . 0.533 1.984 0.991 0.0028 . . rs142284613 rs142284613 1 1538 10 1/0 0,225,255 +rs771633268 2 26818157 C T - CIB4 33703 Calcium and integrin binding family member 4 NM_001029881.2 -1 773 558 NP_001025052.1 A0PJX0 substitution missense exon GRCh37 26818157 26818157 Chr2(GRCh37):g.26818157C>T 215 215 NM_001029881.2:c.215G>A p.Arg72Lys p.Arg72Lys 4 610646 29 3' 82.8559 12.0891 0.888871 13.6818 82.8559 12.0891 0.888871 13.3342 0 rs771633268 yes no Frequency 1 C 0.000000 0 0.000029 0.000000 0.000029 0.000000 0.000000 0.000000 0.000055 0.000000 0.000000 0.000055 8 0 1 0 0 0 7 0 0 277206 24032 34418 10148 18870 30780 126700 25792 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 1 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5900866 Skin 0.000812 1232 transition G A G>A 0.598 -0.117 R Arg AGA 0.205 K Lys AAA 0.425 72 12 7 Horse 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 64.93 0.00 Tolerated 0.68 III.14 255 PASS . . . . . . . . . . . ENSG00000157884:ENST00000288861:exon4:c.G215A:p.R72K CIB4:uc002rhm.3:exon4:c.G215A:p.R72K CIB4:NM_001029881:exon4:c.G215A:p.R72K . . 0.56363636 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.085 . @ . . . . . 1 0.057 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R72K|CIB4|mRNA|CODING|NM_001029881|NM_001029881.ex.4) . . . . . . . -1.1817 -1.054 -1.182 c . . . . . 3.157e-05 . . . 0 3.311e-05 0 0 0 7.13e-05 0 0 0 1.886e-05 0 0 0 3.683e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.665 . . exonic exonic exonic . . 0.137 @ . . . . . . ENSG00000157884 CIB4 CIB4 . . . 0.001 0.073 . . . . . . . Uncertain_significance . 0 . 0.276 . . . . T 0.240 0.009 . . 37 . 0.328 . . 0.271 . . . 0.082 0.212 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.075 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.029 . . . . . 0.318 . 0.203 . HET 0.42 rs771633268 . . . . . . . . . . . . VIII.57 . . 6.VIII 0.0854 . 0.780000 A0PJX0 . . . . . 0.170 . . . 0 2.437e-05 2.978e-05 0 0 0 4.477e-05 0 0 0 6.455e-05 0 0 0 0 0.0001 0 . . 0.283 . -0.054 -0.054000 . . 0.780000 . . 1.0E-255 0.447 0.263 . 0.302 0.986 . 0.208 . 0.062 -0.054 -0.032 . . . . . 1 1538 10 1/0 0,255,255 +rs116333153 2 27260957 C T - TMEM214 25983 Transmembrane protein 214 NM_017727.4 1 3040 2070 NP_060197.4 Q6NUQ4 substitution intron GRCh37 27260957 27260957 Chr2(GRCh37):g.27260957C>T 1153-57 1153-57 NM_017727.4:c.1153-57C>T p.? p.? 10 9 615301 -57 3' 76.4889 10.0077 0.701443 9.82014 76.4889 10.0077 0.701443 9.79584 0 rs116333153 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.006100 0.000000 0.006000 0.001400 0.005488 0.000545 0.002296 0.004544 0.000000 0.008190 0.004979 0.017733 0.007289 0.017733 1512 13 79 46 0 252 626 449 47 275488 23860 34410 10124 18836 30768 125722 25320 6448 0.000073 0.000000 0.000000 0.000198 0.000000 0.000065 0.000032 0.000474 0.000000 10 0 0 1 0 1 2 6 0 1492 13 79 44 0 250 622 437 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -2.539 255 PASS . 0.0027 . . 0.01 . 0.0026 0.0014 . 0.006 0.0061 ENSG00000119777:ENST00000444135:exon2:c.C76T:p.P26S . . . . 0.61290324 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.118 . @ . . . . . 2 0.145 . . 93.0 . . . . . . . . . . -1.1185 -1.384 -1.119 c . . . . . 5.755e-03 . . . 0.0007 0.0054 0.0020 0 0.0179 0.0056 0.0117 0.0083 0.0006 0.0058 0.0019 0 0.0191 0.0057 0.0132 0.0085 nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.003 0.0026 . . . 0.35 0.11 182 ENSG00000119777 TMEM214 TMEM214 . . . 1.000 0.747 . 295 0.00454014 64976 282 0.0047011 59986 . . 0 . . . . . . . . . . . 37 . 0.161 . . 0.368 . . . . 0.090 . . . . . . . . . . . . . . . 0.046 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . 0.001 . 0.206 . HET 0 rs116333153 . . . . . . . 0.0027472527472527475 0.0 0.0 0.0 0.0079155672823219 0.2034 . ENST00000444135 5.XII -10.2 . 0.000000 . . . . . . 0.153 . . . 0.0006 0.0055 0.0023 0.0047 0 0.0183 0.0048 0.0057 0.0082 0.0005 0.0053 0.0024 0 0 0.0140 0.0063 0.0163 . . 0.050 . -1.853 -1.853000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.028 . 0.059 -1.853 -0.670 0.01 . . rs116333153 rs116333153 1 1538 10 1/0 0,255,255 +rs181961549 2 27632075 G C - PPM1G 9278 Protein phosphatase, Mg2+/Mn2+ dependent, 1G NM_177983.2 -1 2302 1641 NP_817092.1 O15355 substitution intron GRCh37 27632075 27632075 Chr2(GRCh37):g.27632075G>C 120+95 120+95 NM_177983.2:c.120+95C>G p.? p.? 1 1 605119 95 5' 87.5642 8.40856 0.965399 XII.49 87.5642 8.40856 0.965399 XII.49 0 rs181961549 yes no Frequency/1000G 2 G 0.000000 0 0.007388 0.000000 0.016400 0.000000 0.014900 0.008600 0.008475 0.001148 0.014320 0.000000 0.000000 0.000000 0.011089 0.016314 0.017312 0.016314 262 10 12 0 0 0 166 57 17 30914 8714 838 302 1614 0 14970 3494 982 0.007634 0.000000 0.000000 0.000000 0.000000 0.000000 0.006024 0.017544 0.000000 2 0 0 0 0 0 1 1 0 258 10 12 0 0 0 164 55 17 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C G C>G 0.000 -0.198 255 PASS . 0.0032 0.0028 . 0.01 . 0.0074 0.0086 . 0.015 0.016 . . . . . 0.4893617 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||PPM1G|mRNA|CODING|NM_177983|) . . . . . . . I.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0074 . . . 0.26 0.24 182 ENSG00000115241 PPM1G PPM1G . . . . . . 430 0.00661783 64976 393 0.00655153 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181961549 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0085 0.0143 0 0 0.0163 0.0111 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs181961549 rs181961549 1 1538 10 1/0 0,255,255 +. 2 27849928 GTC G - CCDC121 25833 Coiled-coil domain containing 121 NM_001142683.2 -1 2762 1323 NP_001136155.1 deletion frameshift exon GRCh37 27849929 27849930 Chr2(GRCh37):g.27849929_27849930del 1223 1224 NM_001142683.2:c.1223_1224del p.Arg408Thrfs*6 p.Arg408Thrfs*6 2 855 3' 97.2489 XII.99 0.995813 6.37901 97.2489 XII.99 0.995813 6.37901 0 rs199568016 yes no Frequency/1000G 2 0.000000 0 0.007188 0.002300 0.018400 0.000000 0.012900 0.002900 0.009624 0.001373 0.002818 0.000690 0.000159 0.020531 0.010527 0.019076 0.010826 0.020531 2668 33 97 7 3 632 1334 492 70 277230 24038 34420 10152 18864 30782 126716 25792 6466 0.000159 0.000000 0.000000 0.000000 0.000000 0.000650 0.000079 0.000465 0.000309 22 0 0 0 0 10 5 6 1 2624 33 97 7 3 612 1324 480 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8187 4256 12443 67 10 77 0.00811728 0.00234412 0.00615016 0.00811728 0.00234412 0.00615016 118 GA 255 Pass 0.002 0.01 0.01 . 0.01 0.0023 0.0072 0.0029 . 0.013 0.018 . . . . . 0.5416667 . . . 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 96 . . . 0.0023 0.0061 0.0081 0.0023 0.0062 0.0081 . . . . . . . . . . 0.010 . . . 0.0013 0.0095 0.0028 0.0005 0.0189 0.0091 0.0168 0.0210 0.0010 0.0107 0.0028 0.0004 0.0194 0.0111 0.0173 0.0210 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000176714 CCDC121 CCDC121 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs199568016 . . . . . . . . . . . . . . . . . . . . . . . 0.006149 . . . . . 0.0012 0.0097 0.0028 0.0007 0.0002 0.0194 0.0103 0.0095 0.0205 0.0017 0.0089 0.0048 0 0 0.0169 0.0119 0.0183 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs199568016 rs199568016 1 1538 10 1.I 0,12,27 +. 2 27849928 GTC G - GPN1 17030 GPN-loop GTPase 1 NM_007266.3 1 1834 1167 NP_009197.2 deletion upstream GRCh37 27849932 27849933 Chr2(GRCh37):g.27849932_27849933del -1952 -1951 NM_007266.3:c.-1952_-1951del p.? p.? 1 611479 -2104 5' 77.9229 7.66477 0.233666 4.06642 77.9229 7.66477 0.233666 4.06642 0 rs199568016 yes no Frequency/1000G 2 0.000000 0 0.007188 0.002300 0.018400 0.000000 0.012900 0.002900 0.009624 0.001373 0.002818 0.000690 0.000159 0.020531 0.010527 0.019076 0.010826 0.020531 2668 33 97 7 3 632 1334 492 70 277230 24038 34420 10152 18864 30782 126716 25792 6466 0.000159 0.000000 0.000000 0.000000 0.000000 0.000650 0.000079 0.000465 0.000309 22 0 0 0 0 10 5 6 1 2624 33 97 7 3 612 1324 480 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8187 4256 12443 67 10 77 0.00811728 0.00234412 0.00615016 0.00811728 0.00234412 0.00615016 118 CT 255 Pass 0.002 0.01 0.01 . 0.01 0.0023 0.0072 0.0029 . 0.013 0.018 . . . . . 0.5416667 . . . 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 96 . . . 0.0023 0.0061 0.0081 0.0023 0.0062 0.0081 . . . . . . . . . . 0.010 . . . 0.0013 0.0095 0.0028 0.0005 0.0189 0.0091 0.0168 0.0210 0.0010 0.0107 0.0028 0.0004 0.0194 0.0111 0.0173 0.0210 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000176714 CCDC121 CCDC121 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs199568016 . . . . . . . . . . . . . . . . . . . . . . . 0.006149 . . . . . 0.0012 0.0097 0.0028 0.0007 0.0002 0.0194 0.0103 0.0095 0.0205 0.0017 0.0089 0.0048 0 0 0.0169 0.0119 0.0183 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs199568016 rs199568016 1 1538 10 1.I 0,12,27 +rs762244829 2 27900669 T G - SLC4A1AP 13813 Solute carrier family 4 (anion exchanger), member 1, adaptor protein NM_018158.2 1 2970 2391 NP_060628.2 Q9BWU0 substitution missense exon GRCh37 27900669 27900669 Chr2(GRCh37):g.27900669T>G 1641 1641 NM_018158.2:c.1641T>G p.Ser547Arg p.Ser547Arg 8 602655 65 3' 86.2535 7.51302 0.828667 6.51987 86.2535 7.51302 0.828667 6.64298 0 rs762244829 yes no Frequency 1 T 0.000000 0 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000032 4 0 0 0 0 0 4 0 0 276836 24028 34340 10142 18858 30720 126508 25788 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.031 0.205 S Ser AGT 0.149 R Arg AGG 0.207 547 13 9 Chicken -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 143.87 41.54 Tolerated 0.1 III.17 good 9.481E-2 0.07925 255 PASS . . . . . . . . . . . ENSG00000163798:ENST00000326019:exon8:c.T1641G:p.S547R SLC4A1AP:uc002rlk.4:exon8:c.T1641G:p.S547R SLC4A1AP:NM_018158:exon8:c.T1641G:p.S547R . . 0.5 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.814 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S547R|SLC4A1AP|mRNA|CODING|NM_018158|NM_018158.ex.8) . . . . . . . -0.1255 -0.258 -0.125 c . . . . . 2.368e-05 . . . 0 2.207e-05 0 0 0 4.754e-05 0 0 0 9.426e-06 0 0 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.206 @ . . . . . . ENSG00000163798 SLC4A1AP SLC4A1AP . . . 0.012 0.123 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . T 0.412 0.019 . . 37 . 0.361 . . 0.212 . . . 0.355 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.379 . . 0 0 0 0 0 0 . 0.498 . . 0.481 . . . . . . 0 0.292 . . . . . 0.330 . 0.250 . HET 0.02 rs762244829 . . . . . . . . . . . . VIII.21 . ENST00000326019 V.37 I.28 . 0.060000 Q9BWU0 . . . . . 0.141 . . . 0 1.22e-05 0 0 0 0 2.691e-05 0 0 0 3.228e-05 0 0 0 0 6.661e-05 0 . . 0.924 . 0.247 0.247000 . . 0.060000 . . 1.0E-255 0.013 0.187 . 0.385 0.983 . 0.094 . 0.231 0.247 -0.368 . . . . . 1 1538 10 1/0 0,255,255 +rs747496826 2 27900696 A G - SLC4A1AP 13813 Solute carrier family 4 (anion exchanger), member 1, adaptor protein NM_018158.2 1 2970 2391 NP_060628.2 Q9BWU0 substitution synonymous exon GRCh37 27900696 27900696 Chr2(GRCh37):g.27900696A>G 1668 1668 NM_018158.2:c.1668A>G p.Lys556= p.Lys556Lys 8 602655 92 3' 86.2535 7.51302 0.828667 6.51987 86.2535 7.51302 0.828667 6.51987 0 rs747496826 yes no Frequency 1 A 0.000000 0 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000032 4 0 0 0 0 0 4 0 0 277052 24030 34400 10148 18862 30764 126602 25788 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.992 -0.037 K Lys AAA 0.425 K Lys AAG 0.575 556 255 PASS . . . . . . . . . . . ENSG00000163798:ENST00000326019:exon8:c.A1668G:p.K556K SLC4A1AP:uc002rlk.4:exon8:c.A1668G:p.K556K SLC4A1AP:NM_018158:exon8:c.A1668G:p.K556K . . 0.45454547 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K556|SLC4A1AP|mRNA|CODING|NM_018158|NM_018158.ex.8) . . . . . . . I.87 . . . . . . . . 2.368e-05 . . . 0 2.208e-05 0 0 0 4.751e-05 0 0 0 9.428e-06 0 0 0 1.841e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000163798 SLC4A1AP SLC4A1AP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747496826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.219e-05 0 0 0 0 2.688e-05 0 0 0 3.228e-05 0 0 0 0 6.66e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs564923302 2 29063140 C T - SPDYA 30613 Speedy homolog A (Xenopus laevis) NM_182756.3 1 1817 942 NP_877433.2 Q5MJ70 substitution missense exon GRCh37 29063140 29063140 Chr2(GRCh37):g.29063140C>T 655 655 NM_182756.3:c.655C>T p.Arg219Trp p.Arg219Trp 7 614029 103 3' 87.6951 5.92452 0.970934 0 87.6951 5.92452 0.970934 0 0 transition C T C>T 1.000 1.981 R Arg CGG 0.207 W Trp TGG 1.000 219 11 11 Tetraodon -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C65 0.00 101.29 Deleterious 0 III.72 bad 1.233E-4 0.0001143 255 PASS . . . . . . . . . . . . . . . . 0.654321 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.944 . @ . . . . . 1 0.986 . . 81.0 . . . . . . . . . . 0.4692 0.416 0.469 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.427 0.0012 . . . . . . ENSG00000163806 SPDYA SPDYA . . . 0.018 0.131 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.459 0.023 . . 37 . 0.761 . . 0.790 . . . 0.592 0.494 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.901 . . 0 0 0 0 0 0 . 0.899 . . 0.749 . . . . . . 0 0.784 . . . . . 0.755 . 0.836 . HET 0 . . . . . . . . . . . . . 15.5187 . . V.64 3.VIII . 0.000000 . . . . . . 0.422 . . 3.VIII . . . . . . . . . . . . . . . . . . . 0.246 . 0.801 0.801000 . . 0.000000 . . 1.0E-255 0.999 0.424 . 0.697 0.998 . 0.365 . 0.144 0.801 -0.044 . . . . . 1 1538 10 1/0 0,255,255 +rs190797611 2 29352839 A G - CLIP4 26108 CAP-GLY domain containing linker protein family, member 4 NM_001287527.1 1 4289 2118 NP_001274456.1 Q8N3C7 substitution intron GRCh37 29352839 29352839 Chr2(GRCh37):g.29352839A>G 134-1285 134-1285 NM_001287527.1:c.134-1285A>G p.? p.? 3 2 -1285 3' 96.0891 9.90697 0.965197 6.46547 96.0891 9.90697 0.965197 6.46547 0 Cryptic Acceptor Strongly Activated 29352844 3.34784 0.906312 5.1749 0.886363 90.1382 rs190797611 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.000800 0.000000 0.000000 0.008900 0.004300 0.006355 0.002874 0.003580 0.000000 0.000000 0.000000 0.009914 0.004315 0.005123 0.009914 196 25 3 0 0 0 148 15 5 30842 8700 838 302 1622 0 14928 3476 976 0.005102 0.000000 0.000000 0.000000 0.000000 0.000000 0.006757 0.000000 0.000000 1 0 0 0 0 0 1 0 0 194 25 3 0 0 0 146 15 5 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition A G A>G 0.000 -0.117 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.0026 0.0043 . 0.0089 . . . . . . 0.5 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.1706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.34 0.48 182 ENSG00000115295 CLIP4 CLIP4 . . . . . . 467 0.00718727 64976 454 0.00756843 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190797611 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0064 0.0036 0 0 0.0043 0.0099 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs190797611 rs190797611 1 1538 10 1/0 0,255,255 +rs141527084 2 31147465 C T - GALNT14 22946 Polypeptide N-acetylgalactosaminyltransferase 14 NM_001253826.1 -1 2750 1674 NP_001240755.1 substitution intron GRCh37 31147465 31147465 Chr2(GRCh37):g.31147465C>T 1250+141 1250+141 NM_001253826.1:c.1250+141G>A p.? p.? 13 13 608225 141 5' 71.3518 7.90757 0.859766 5.1232 71.3518 7.90757 0.859766 5.1232 0 rs141527084 yes no Frequency/1000G 2 G 0.000000 0 0.005791 0.001500 0.019400 0.000000 0.007000 0.001400 0.003911 0.001032 0.002387 0.026490 0.000000 0.000000 0.006206 0.002003 0.002037 0.026490 121 9 2 8 0 0 93 7 2 30942 8720 838 302 1620 0 14986 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 9 2 8 0 0 93 7 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -1.086 255 PASS 0.01 0.01 0.0028 . 0.01 0.0015 0.0058 0.0014 . 0.007 0.019 . . . . . 0.5263158 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.1392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0058 . . . 0.3 0.24 182 ENSG00000158089 GALNT14 GALNT14 . . . . . . 510 0.00784905 64976 481 0.00801854 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141527084 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833659 . . . . . . . . . . . . . . . 0.0010 0.0039 0.0024 0.0265 0 0.0020 0.0062 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs141527084 rs141527084 1 1538 10 1/0 0,255,255 +rs377409410 2 31751217 A G - SRD5A2 11285 Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) NM_000348.3 -1 2446 765 NP_000339.2 P31213 substitution 3'UTR NG_008365.1 59825 59825 NG_008365.1:g.59825T>C *49 *49 NM_000348.3:c.*49T>C p.? p.? 5 607306 116 3' 90.9386 13.3251 0.988476 8.35967 90.9386 13.3251 0.988476 8.35967 0 rs377409410 yes no Frequency 1 A 0.000000 0 0.000343 0.000000 0.000321 0.000118 0.000080 0.000045 0.000655 0.000049 0.000406 0.000655 64 0 8 1 1 1 50 1 2 186706 16670 24936 8468 12480 22440 76338 20448 4926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 0 8 1 1 1 50 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8111 3654 11765 3 0 3 0.000369731 0 0.000254929 0.000369731 0 0.000254929 37 transition T C T>C 0.000 255 PASS . . . . . . . . . . . . . . . . 0.5217391 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . UTR_3_PRIME(MODIFIER||||SRD5A2|mRNA|CODING|NM_000348|NM_000348.ex.5) . 0.0003 0.0004 . 0.0003 0.0004 . 0.5799 . . . . . . . . 2.554e-04 . . . 0 0.0004 0.0013 0 0 0.0007 0 0.0001 0 0.0003 0 0 0 0.0007 0 0.0001 . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.5 0.38 182 ENSG00000049319 SRD5A2 SRD5A2 . uc002rnw.1:c.*49T>C NM_000348:c.*49T>C . . . 22 0.000338587 64976 22 0.000366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377409410 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv456030 0.000255 . . . . . 0 0.0003 0.0003 0.0001 9.205e-05 5.894e-05 0.0006 0.0003 4.456e-05 0 0.0006 0 0 0 0 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs377409410 rs377409410 1 1538 10 1/0 0,255,255 +rs71437572 2 37426833 G C - CEBPZ 24218 CCAAT/enhancer binding protein (C/EBP), zeta NM_005760.2 -1 3330 3165 NP_005751.2 Q03701 substitution downstream GRCh37 37426833 37426833 Chr2(GRCh37):g.37426833G>C *2074 *2074 NM_005760.2:c.*2074C>G p.? p.? 16 612828 2214 3' 83.6023 X.39 0.990534 XII.52 83.6023 X.39 0.990534 XII.52 0 rs71437572 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.002000 0.000000 0.009900 0.004300 0.005149 0.002106 0.002516 0.001561 0.000000 0.005042 0.009416 0.001193 0.004673 0.009416 892 32 61 13 0 113 627 24 22 173238 15196 24242 8326 11644 22412 66592 20118 4708 0.000046 0.000000 0.000000 0.000000 0.000000 0.000178 0.000060 0.000000 0.000000 4 0 0 0 0 2 2 0 0 884 32 61 13 0 109 623 24 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -1.570 255 PASS . 0.0046 0.01 . 0.01 . 0.003 0.0043 . 0.0099 0.002 . . . . . 0.43589744 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2157 . . . . . . . . 3.884e-03 . . . 0.0011 0.0045 0.0068 0 0 0.0048 0 0.0050 0.0024 0.0038 0.0089 0 0.0031 0.0016 0 0.0050 . . . . . . intronic intronic ncRNA_intronic . . . 0.0030 . . . 0.44 0.34 182 ENSG00000218739 LOC100505876 CEBPZOS . . . . . . 428 0.00658705 64976 414 0.00690161 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs71437572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0051 0.0025 0.0016 0 0.0011 0.0097 0.0046 0.0050 0.0026 0.0052 0.0024 0 0 0.0014 0.0083 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs71437572 rs71437572 rs71437572 1 1538 10 1/0 0,255,255 +rs71437572 2 37426833 G C - CEBPZOS 49288 CEBPZ opposite strand NM_001322373.1 1 3366 243 NP_001309302.1 A8MTT3 substitution intron GRCh37 37426833 37426833 Chr2(GRCh37):g.37426833G>C -15 -15 NM_001322373.1:c.-1-14G>C p.? p.? 3 2 -14 3' 76.5006 9.48843 0.779151 0 78.9103 8.59618 0.824044 0 -0.0016397 Cryptic Acceptor Weakly Activated 37426847 9.48843 0.779151 76.5006 8.59618 0.824044 78.9103 rs71437572 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.002000 0.000000 0.009900 0.004300 0.005149 0.002106 0.002516 0.001561 0.000000 0.005042 0.009416 0.001193 0.004673 0.009416 892 32 61 13 0 113 627 24 22 173238 15196 24242 8326 11644 22412 66592 20118 4708 0.000046 0.000000 0.000000 0.000000 0.000000 0.000178 0.000060 0.000000 0.000000 4 0 0 0 0 2 2 0 0 884 32 61 13 0 109 623 24 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -1.570 255 PASS . 0.0046 0.01 . 0.01 . 0.003 0.0043 . 0.0099 0.002 . . . . . 0.43589744 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2157 . . . . . . . . 3.884e-03 . . . 0.0011 0.0045 0.0068 0 0 0.0048 0 0.0050 0.0024 0.0038 0.0089 0 0.0031 0.0016 0 0.0050 . . . . . . intronic intronic ncRNA_intronic . . . 0.0030 . . . 0.44 0.34 182 ENSG00000218739 LOC100505876 CEBPZOS . . . . . . 428 0.00658705 64976 414 0.00690161 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs71437572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0051 0.0025 0.0016 0 0.0011 0.0097 0.0046 0.0050 0.0026 0.0052 0.0024 0 0 0.0014 0.0083 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs71437572 rs71437572 rs71437572 1 1538 10 1/0 0,255,255 +rs116096831 2 37505108 C T - PRKD3 9408 Protein kinase D3 NM_005813.4 -1 5903 2673 NP_005804.1 O94806 substitution synonymous exon GRCh37 37505108 37505108 Chr2(GRCh37):g.37505108C>T 1197 1197 NM_005813.4:c.1197G>A p.Pro399= p.Pro399Pro 8 607077 25 3' 73.831 5.44314 0.208409 0 73.831 5.44314 0.208409 0 0 rs116096831 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.003100 0.000000 0.005000 0.002900 0.005025 0.000502 0.001982 0.008911 0.000321 0.003542 0.006837 0.008199 0.004224 0.008911 1381 12 67 90 6 107 861 211 27 274810 23926 33804 10100 18716 30206 125930 25736 6392 0.000058 0.000000 0.000000 0.000000 0.000000 0.000132 0.000048 0.000233 0.000000 8 0 0 0 0 2 3 3 0 1365 12 67 90 6 103 855 205 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8554 4403 12957 46 3 49 0.00534884 0.00068089 0.00376749 0.00534884 0.00068089 0.00376749 168 transition G A G>A 0.236 -1.409 P Pro CCG 0.115 P Pro CCA 0.274 399 255 PASS . 0.0018 0.0028 . 0.004 . 0.002 0.0029 . 0.005 0.0031 . . PRKD3:NM_005813:exon8:c.G1197A:p.P399P . . 0.6447368 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 76.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P399|PRKD3|mRNA|CODING|NM_005813|NM_005813.ex.8) 0.0007 0.0038 0.0053 0.0007 0.0038 0.0053 . 0.6599 . . . . . . . . 5.335e-03 . . . 0.0003 0.0043 0.0011 0.0004 0.0074 0.0069 0.0042 0.0033 0.0002 0.0053 0.0012 0.0003 0.0082 0.0081 0.0029 0.0033 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0020 . . . 0.29 0.2 182 ENSG00000115825 PRKD3 PRKD3 . . . . . . 325 0.00500185 64976 315 0.00525123 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116096831 . . . . . . . . . . . . . . . . . . . . . . . 0.003767 . . . . . 0.0004 0.0051 0.0020 0.0089 0.0003 0.0081 0.0069 0.0042 0.0035 0.0007 0.0046 0.0024 0.0099 0.0006 0.0086 0.0063 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0053 . . rs116096831 rs116096831 1 1538 10 1/0 0,255,255 +rs770968296 2 43015720 G A - HAAO 4796 3-hydroxyanthranilate 3,4-dioxygenase NM_012205.2 -1 1284 861 NP_036337.2 P46952 substitution synonymous exon GRCh37 43015720 43015720 Chr2(GRCh37):g.43015720G>A 108 108 NM_012205.2:c.108C>T p.Phe36= p.Phe36Phe 2 604521 28 3' 88.1678 VI.39 0.857878 3.74003 88.1678 VI.39 0.857878 3.12758 0 3-hydroxyanthranilic acid dioxygenase 3-hydroxyanthranilate 3, 4-dioxygenase, metazoan rs770968296 no no 0 G 0.000000 0 0.000008 0.000000 0.000030 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000030 2 0 1 0 0 0 1 0 0 246266 15304 33582 9850 17248 30782 111714 22300 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 135 Exomes transition C T C>T 1.000 0.851 F Phe TTC 0.546 F Phe TTT 0.454 36 255 PASS . . . . . . . . . . . . . HAAO:NM_012205:exon2:c.C108T:p.F36F . . 0.4871795 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F36|HAAO|mRNA|CODING|NM_012205|NM_012205.ex.2) . . . . . . . 1.0863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000162882 HAAO HAAO . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs770968296 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv519877 . . . . . II.52 0 8.121e-06 2.978e-05 0 0 0 8.951e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +rs12712895 2 43905898 G C - PLEKHH2 30506 Pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 NM_172069.3 1 6954 4482 NP_742066.2 Q8IVE3 substitution intron GRCh37 43905898 43905898 Chr2(GRCh37):g.43905898G>C 124-104 124-104 NM_172069.3:c.124-104G>C p.? p.? 3 2 612723 -104 3' 81.6874 11.062 0.949229 6.68359 81.6874 11.062 0.949229 6.68359 0 Cryptic Donor Strongly Activated 43905900 0.020625 65.332 2.57415 0.038792 68.3867 rs12712895 no no 0 0.000000 0 0.000654 0.001853 0.000000 0.003425 0.000000 0.000000 0.000203 0.000000 0.000000 0.003425 20 16 0 1 0 0 3 0 0 30602 8634 832 292 1610 0 14788 3476 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 10 0 1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.72727275 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.3210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.08 182 ENSG00000152527 PLEKHH2 PLEKHH2 . . . . . . 10772 0.165784 64976 10754 0.179275 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12712895 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0007 0 0.0034 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs12712895 rs12712895 rs12712895 rs12712895 1 1538 10 1/0 0,255,255 +. 2 45233332 T G - SIX2 10888 SIX homeobox 2 NM_016932.4 -1 2154 876 NP_058628.3 Q9NPC8 substitution missense exon GRCh37 45233332 45233332 Chr2(GRCh37):g.45233332T>G 853 853 NM_016932.4:c.853A>C p.Asn285His p.Asn285His 2 604994 293 3' 84.3056 9.86232 0.434955 7.22209 84.3056 9.86232 0.434955 7.22209 0 Cryptic Acceptor Strongly Activated 45233334 2.72084 0.030389 66.497 3.36597 0.053863 66.497 transversion A C A>C 1.000 4.402 N Asn AAC 0.536 H His CAC 0.587 285 15 12 Tetraodon 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 213 PASS . . . . . . . . . . . ENSG00000170577:ENST00000303077:exon2:c.A853C:p.N285H SIX2:uc002ruo.3:exon2:c.A853C:p.N285H SIX2:NM_016932:exon2:c.A853C:p.N285H . . 0.19339623 . . @ 41 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.749 . @ . . . . . 1 0.596 . . 212.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N285H|SIX2|mRNA|CODING|NM_016932|NM_016932.ex.2) . . . . . . . 0.3003 0.388 0.300 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.884 . . exonic exonic exonic . . 0.622 @ . . . . . . ENSG00000170577 SIX2 SIX2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.819 0.136 . . 37 . 0.797 . . 0.837 . . . 0.498 0.548 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.515 . . 0.414 . . . . . . 0 0.721 . . . . . 0.667 . 0.406 . HET 0.02 . . . . . . . . . . . . . 14.4287 . ENST00000303077 IV.85 IV.85 . 0.000000 . . . Name\x3dnsv2711 . . 0.771 . . IV.85 . . . . . . . . . . . . . . . . . . . 0.396 . 1.804 1.804000 . . 0.000000 . . 1.0E-213 1.000 0.715 . 0.888 1.000 . 0.820 . 0.580 1.804 0.991 . . . . . 1 1538 10 1.I 0,0,0 +rs13001154 2 47279039 T C - TTC7A 19750 Tetratricopeptide repeat domain 7A NM_001288951.1 1 5230 2649 NP_001275880.1 substitution intron GRCh37 47279039 47279039 Chr2(GRCh37):g.47279039T>C 2224+20 2224+20 NM_001288951.1:c.2224+20T>C p.? p.? 19 19 609332 20 5' 87.1266 10.0978 0.982622 9.24664 87.1266 10.0978 0.982622 9.45843 0 rs13001154 yes no Frequency/1000G 2 T 0.000000 0 0.006390 0.000000 0.010200 0.000000 0.012900 0.013000 0.008464 0.002908 0.008134 0.004856 0.000000 0.011668 0.011745 0.002855 0.005548 0.011745 2138 63 263 46 0 334 1332 67 33 252592 21666 32334 9472 17664 28626 113414 23468 5948 0.000119 0.000092 0.000186 0.000000 0.000000 0.000419 0.000071 0.000085 0.000000 15 1 3 0 0 6 4 1 0 2108 61 257 46 0 322 1324 65 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.037 255 PASS . . . . . . 0.0064 0.013 . 0.013 0.01 . . . . . 0.3529412 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.0465 . . . . . . . . 7.783e-03 . . . 0.0032 0.0101 0.0064 0 0.0036 0.0132 0.0126 0.0136 0.0031 0.0105 0.0065 0 0.0037 0.0135 0.0118 0.0136 . . . . . . intronic intronic intronic . . . 0.0064 . . . 0.3 0.2 182 ENSG00000068724 TTC7A TTC7A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs13001154 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0087 0.0081 0.0050 0 0.0029 0.0119 0.0062 0.0117 0.0032 0.0066 0.0095 0 0 0.0029 0.0104 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs13001154 rs13001154 rs13001154 rs13001154 1 1538 10 1/0 0,255,255 +rs140166160 2 47287925 C A - TTC7A 19750 Tetratricopeptide repeat domain 7A NM_001288951.1 1 5230 2649 NP_001275880.1 substitution missense exon GRCh37 47287925 47287925 Chr2(GRCh37):g.47287925C>A 2242 2242 NM_001288951.1:c.2242C>A p.Gln748Lys p.Gln748Lys 20 609332 18 3' 89.7431 11.0944 0.940829 13.9523 89.7431 11.0944 0.940463 13.828 -0.000129673 rs140166160 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.003100 0.000000 0.004000 0.008600 0.004881 0.001748 0.003793 0.001205 0.000000 0.006606 0.007310 0.000896 0.002644 0.007310 1344 42 130 12 0 201 919 23 17 275370 24032 34276 9960 18864 30428 125722 25658 6430 0.000073 0.000083 0.000058 0.000000 0.000000 0.000329 0.000048 0.000000 0.000000 10 1 1 0 0 5 3 0 0 1324 40 128 12 0 191 913 23 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4398 12941 57 8 65 0.00662791 0.00181571 0.00499769 0.00662791 0.00181571 0.00499769 83 transversion C A C>A 0.992 1.658 Q Gln CAG 0.744 K Lys AAG 0.575 748 12 7 Chicken 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 0.6 3.VII 255 PASS . 0.0032 0.01 . 0.0026 . 0.0026 0.0086 . 0.004 0.0031 . . . . . 0.43209878 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.308 . @ . . . . . 1 0.218 . . 81.0 . . . 0.0018 0.005 0.0066 0.0018 0.005 0.0066 . 0.0386 0.214 0.039 c . . . . . 4.767e-03 . . . 0.0015 0.0045 0.0026 0 0.0016 0.0056 0.0045 0.0076 0.0017 0.0050 0.0026 0 0.0014 0.0066 0.0031 0.0076 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.739 . . exonic exonic exonic . . 0.910 0.0026 . . . 0.45 0.49 182 ENSG00000068724 TTC7A TTC7A . . . 1.000 0.747 . 473 0.00727961 64976 460 0.00766846 59986 Uncertain_significance . 0 . 0.265 . . . . T 0.391 0.017 . . 37 . 0.599 . . 0.630 . . . 0.351 0.278 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . 0.273 . . 0.318 . . . . . . 0 0.201 . . . . . 0.576 . 0.456 . HET 0.51 rs140166160 0.011 0.007 . . . . . 0.003205128205128205 0.0 0.013812154696132596 0.0 0.002638522427440633 XII.39 0.001873 . V.77 V.77 . 0.080000 . . . . 0.004998 . 0.403 . . V.77 0.0016 0.0050 0.0037 0.0012 0 0.0009 0.0075 0.0028 0.0066 0.0021 0.0039 0.0060 0 0 0.0009 0.0062 0.0020 . . 0.730 . 2.741 2.741000 . . 0.080000 . . 1.0E-255 0.999 0.424 . 0.490 0.989 . 0.318 . 0.490 2.741 0.871 0.011 . . rs140166160 rs140166160 1 1538 10 1/0 0,255,255 +rs146480420 2 47601029 G C - EPCAM 11529 Epithelial cell adhesion molecule NM_002354.2 1 1718 945 NP_002345.2 P16422 substitution missense exon GRCh37 47601029 47601029 Chr2(GRCh37):g.47601029G>C 267 267 NM_002354.2:c.267G>C p.Gln89His p.Gln89His 3 185535 83 3' 90.0547 6.99962 0.856049 3.03701 90.0547 6.99962 0.856049 3.03701 0 Thyroglobulin type-1 rs146480420 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.002702 0.001248 0.001947 0.001576 0.000000 0.000260 0.004625 0.001124 0.002011 0.004625 749 30 67 16 0 8 586 29 13 277220 24036 34420 10152 18864 30782 126710 25792 6464 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 739 30 67 16 0 8 576 29 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4400 12950 50 6 56 0.00581395 0.00136178 0.00430571 0.00581395 0.00136178 0.00430571 65 RCV000115770.2|RCV000123185.7 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|research|clinical testing Likely benign|Conflicting interpretations of pathogenicity 2|1 not specified|Lynch syndrome transversion G C G>C 0.984 0.286 Q Gln CAG 0.744 H His CAC 0.587 89 12 10 Chicken 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 96.32 XI.15 Tolerated 0.07 III.36 bad 4.851E-3 0.001158 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . EPCAM:uc002rvx.3:exon3:c.G267C:p.Q89H EPCAM:NM_002354:exon3:c.G267C:p.Q89H . . 0.57894737 . . germline 44 . . 1.2.2016 0 1 0 0 1 0 1 0 0 1 0 0 . . . . . . 0.389 . Likely//\@benign//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity Likely_benign|other RCV000115770.2|RCV000123185.6 not_specified|Lynch_syndrome MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C1333990:ORPHA144:315058005 1 0.688 . . 76.0 . . . 0.0014 0.0043 0.0058 0.0014 0.0043 0.0058 . 0.1512 0.063 0.151 c . . . . . 2.573e-03 . . . 0.0014 0.0024 0.0017 0 0.0005 0.0041 0 0.0003 0.0013 0.0024 0.0017 0 0.0005 0.0040 0.0014 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.643 . . exonic exonic exonic . . 0.212 0.0010 . . . 0.32 0.25 182 ENSG00000119888 EPCAM EPCAM . . . 1.000 0.747 . 231 0.00355516 64976 226 0.00376755 59986 Likely_benign . 0 . 0.351 . . . . D 0.673 0.058 . . 37 . 0.568 . . 0.649 . . . 0.601 0.354 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.518 . . 0 0 0 0 1 0 . 0.670 . . 0.639 . . . . . . 0 0.531 . . . . . 0.133 . 0.364 . HET 0.04 rs146480420 . . . . CLINSIG\x3dprobable-non-pathogenic|probable-non-pathogenic\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome|Lynch_syndrome\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000115770.2|RCV000123185.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT|GeneReviews:MedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009|NBK1211:C0009405:315058005 CLINSIG\x3dprobable-non-pathogenic|probable-non-pathogenic\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome|Lynch_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter|no_assertion_criteria_provided\x3bCLNACC\x3dRCV000115770.2|RCV000123185.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT|GeneReviews:MedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009|NBK1211:C0009405:315058005 . 0.0018315018315018315 0.0 0.0027624309392265192 0.0 0.00395778364116095 IV.43 0.001338 . 5.IV I.39 . 0.010000 . . . Name\x3dnsv520660 0.004306 . 0.445 . . . 0.0012 0.0027 0.0020 0.0015 0 0.0010 0.0046 0.0022 0.0003 0.0014 0.0028 0 0.0033 0 0.0017 0.0045 0.0010 . . 0.817 . 0.423 0.423000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.213 0.147 . 0.288 . 0.713 0.423 0.069 0.0058 . . rs146480420 rs146480420 1 1538 10 1/0 0,255,255 +rs148676301 2 48036749 C T - FBXO11 13590 F-box protein 11 NM_001190274.1 -1 4055 2784 NP_001177203.1 Q86XK2 substitution synonymous exon GRCh37 48036749 48036749 Chr2(GRCh37):g.48036749C>T 2436 2436 NM_001190274.1:c.2436G>A p.Val812= p.Val812Val 20 607871 -11 5' 89.5197 9.78772 0.988003 0 89.5197 9.78772 0.988003 0 0 Cryptic Donor Strongly Activated 48036752 0.002964 64.6911 3.18845 0.04428 69.0534 Parallel beta-helix repeat Carbohydrate-binding/sugar hydrolysis domain rs148676301 yes no Frequency 1 C 0.000000 0 0.000336 0.000042 0.000029 0.000000 0.000000 0.000000 0.000633 0.000392 0.000155 0.000633 93 1 1 0 0 0 80 10 1 276420 24026 34338 10134 18862 30712 126390 25514 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 1 1 0 0 0 80 10 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 94 transition G A G>A 1.000 0.367 V Val GTG 0.468 V Val GTA 0.114 812 255 PASS . . . . . . . . . . . . . . . . 0.53061223 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.24 . . . . . . . . 3.789e-04 . . . 0 0.0002 0 0 0.0005 0.0003 0 0 0 0.0004 0 0 0.0003 0.0007 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.68 0.21 182 ENSG00000138081 FBXO11 FBXO11 . . . . . . 11 0.000169293 64976 11 0.000183376 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . rs148676301 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . III.52 0 0.0003 2.985e-05 0 0 0.0005 0.0006 0.0002 0 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs148676301 rs148676301 1 1538 10 1/0 0,255,255 +. 2 60696091 G T - BCL11A 13221 B-cell CLL/lymphoma 11A (zinc finger protein) NM_022893.3 -1 5946 2508 NP_075044.2 Q9H165 substitution intron GRCh37 60696091 60696091 Chr2(GRCh37):g.60696091G>T 386-123 386-123 NM_022893.3:c.386-123C>A p.? p.? 3 2 606557 -123 3' 88.8425 10.0314 0.967124 8.49058 88.8425 10.0314 0.967124 8.49058 0 transversion C A C>A 0.992 1.739 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . I.10 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000119866 BCL11A BCL11A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834204 . . . . . IV.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201775897 2 64863011 A C - SERTAD2 30784 SERTA domain containing 2 NM_014755.2 -1 5548 945 NP_055570.1 Q14140 substitution 3'UTR GRCh37 64863011 64863011 Chr2(GRCh37):g.64863011A>C *50 *50 NM_014755.2:c.*50T>G p.? p.? 2 617851 999 3' 84.2061 XII.71 0.991783 XII.81 84.2061 XII.71 0.991783 XII.81 0 rs201775897 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000042 0.000000 0.000173 0.000042 6 0 0 0 0 0 5 0 1 255630 23614 29774 7818 17802 27798 118608 24448 5768 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.198 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.55737704 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . UTR_3_PRIME(MODIFIER||||SERTAD2|mRNA|CODING|NM_014755|NM_014755.ex.2) . . . . . . . 0.4352 . . . . . . . . 1.580e-05 . . . 0 2.287e-05 0 0 0 4.853e-05 0 0 0 1.946e-05 0 0 0 3.747e-05 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.64 0.56 182 ENSG00000179833 SERTAD2 SERTAD2 ENST00000313349:c.*50T>G uc002sde.2:c.*50T>G NM_014755:c.*50T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201775897 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7313 . . . . . . 0 2.226e-05 0 0 0 0 3.861e-05 0.0002 0 0 3.228e-05 0 0 0 0 6.66e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs201775897 rs201775897 1 1538 10 1/0 0,255,255 +. 2 65217233 C T - SLC1A4 10942 Solute carrier family 1 member 4 NM_003038.4 1 4601 1599 NP_003029.2 P43007 substitution synonymous exon GRCh37 65217233 65217233 Chr2(GRCh37):g.65217233C>T 456 456 NM_003038.4:c.456C>T p.Asp152= p.Asp152Asp 1 600229 -72 5' 81.9751 8.87834 0.92937 VIII.96 81.9751 8.87834 0.92937 8.43483 0 Sodium transition C T C>T 1.000 3.434 D Asp GAC 0.539 D Asp GAT 0.461 152 255 PASS . . . . . . . . . . . ENSG00000115902:ENST00000234256:exon1:c.C456T:p.D152D SLC1A4:uc010yqa.2:exon1:c.C456T:p.D152D SLC1A4:NM_003038:exon1:c.C456T:p.D152D . . 0.44642857 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . II.25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000115902 SLC1A4 SLC1A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +rs147962002 2 68717350 A T - APLF 28724 Aprataxin and PNKP like factor NM_173545.2 1 3849 1536 NP_775816.1 Q8IW19 substitution missense exon GRCh37 68717350 68717350 Chr2(GRCh37):g.68717350A>T 125 125 NM_173545.2:c.125A>T p.His42Leu p.His42Leu 2 611035 29 3' 86.9667 6.98459 0.978691 8.64506 86.9667 6.98459 0.978691 8.24043 0 rs147962002 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.001500 0.000000 0.000000 0.001000 0.001400 0.000997 0.000208 0.000531 0.000197 0.000000 0.000886 0.001645 0.000117 0.001868 0.001645 275 5 18 2 0 27 208 3 12 275766 23998 33930 10130 18744 30476 126412 25652 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 275 5 18 2 0 27 208 3 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4404 12988 16 2 18 0.00186047 0.000453926 0.00138398 0.00186047 0.000453926 0.00138398 86 transversion A T A>T 1.000 2.869 H His CAT 0.413 L Leu CTT 0.129 42 12 11 Tetraodon -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 C35 32.40 91.85 Deleterious 0.01 3.I bad 4.375E-5 0.001905 255 PASS 0.002 0.0009 . . 0.0013 0.0015 0.0008 0.0014 . 0.001 . . APLF:uc002sep.3:exon2:c.A125T:p.H42L APLF:NM_173545:exon2:c.A125T:p.H42L . . 0.38235295 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.595 . @ . . . . . 1 0.328 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cTt|H42L|APLF|mRNA|CODING|NM_173545|NM_173545.ex.2) 0.0005 0.0014 0.0019 0.0005 0.0014 0.0019 . 0.7906 0.760 0.791 c . . . . . 1.058e-03 . . . 0.0005 0.0010 0.0004 0 0 0.0016 0 0.0009 0.0006 0.0011 0.0004 0 0 0.0017 0.0015 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.544 . . exonic exonic exonic . . 0.959 0.0008 . . . 0.39 0.4 182 ENSG00000169621 APLF APLF . . . 0.891 0.258 . 52 0.000800296 64976 48 0.000800187 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.379 0.016 . . 37 . 0.725 . . 0.767 . . . 0.812 0.463 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.963 . . 0 0 0 0 0 0 . 0.764 . . 0.850 . . . . . . 0 0.912 . . . . . 0.566 . 0.930 . HET 0 rs147962002 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0 0.0 0.0013192612137203166 XII.16 5.35E-4 ENST00000303795 V.93 V.93 . 0.000000 Q8IW19 . . . 0.001384 . 0.513 . . V.93 0.0003 0.0011 0.0005 0.0002 0 0.0001 0.0018 0.0020 0.0009 0.0001 0.0004 0 0 0 0 0.0007 0.0010 . . 0.428 . 2.271 2.271000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.609 . 0.960 2.271 1.062 0.002 . . rs147962002 rs147962002 1 1538 10 1/0 0,255,255 +rs200898537 2 68755680 G A - APLF 28724 Aprataxin and PNKP like factor NM_173545.2 1 3849 1536 NP_775816.1 Q8IW19 substitution intron GRCh37 68755680 68755680 Chr2(GRCh37):g.68755680G>A 804+2306 804+2306 NM_173545.2:c.804+2306G>A p.? p.? 6 6 611035 2306 5' 82.9382 5.88335 0.373097 0 82.9382 5.88335 0.373097 0 0 rs200898537 yes no Frequency 1 G 0.000000 0 0.000826 0.002278 0.000000 0.000000 0.003676 0.000000 0.000136 0.000000 0.000000 0.003676 24 17 0 0 5 0 2 0 0 29040 7462 822 290 1360 0 14672 3474 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 17 0 0 5 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition G A G>A 0.173 0.286 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||APLF|mRNA|CODING|NM_173545|) . . . . . . . -0.2698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.27 0.18 182 ENSG00000214525 APLF APLF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200898537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0008 0 0 0.0037 0 0.0001 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs200898537 rs200898537 1 1538 10 1/0 0,247,255 +rs201082060 2 68755880 G C - APLF 28724 Aprataxin and PNKP like factor NM_173545.2 1 3849 1536 NP_775816.1 Q8IW19 substitution intron GRCh37 68755880 68755880 Chr2(GRCh37):g.68755880G>C 804+2506 804+2506 NM_173545.2:c.804+2506G>C p.? p.? 6 6 611035 2506 5' 82.9382 5.88335 0.373097 0 82.9382 5.88335 0.373097 0 0 rs201082060 yes no Frequency 1 G 0.000000 0 0.004117 0.012482 0.000000 0.000000 0.013491 0.000000 0.000763 0.000291 0.001064 0.013491 115 86 0 0 16 0 11 1 1 27934 6890 798 268 1186 0 14412 3440 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 86 0 0 16 0 11 1 1 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion G C G>C 0.083 -1.167 209 PASS . . . . . . . . . . . . . . . . 0.18320611 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . INTRON(MODIFIER||||APLF|mRNA|CODING|NM_173545|) . . . . . . . -0.4891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.29 0.21 182 ENSG00000214525 APLF APLF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201082060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0125 0.0041 0 0 0.0135 0.0003 0.0008 0.0011 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs4514045 rs4514045 rs4514045 rs201082060 1 1538 10 1/0 0,222,255 +rs779443682 2 73491618 G A - FBXO41 29409 F-box protein 41 NM_001080410.2 -1 6928 2628 NP_001073879.2 Q8TF61 substitution missense exon GRCh37 73491618 73491618 Chr2(GRCh37):g.73491618G>A 1594 1594 NM_001080410.2:c.1594C>T p.Arg532Trp p.Arg532Trp 5 609108 30 3' 81.5582 V.71 0.790775 7.22138 81.5582 V.71 0.790775 6.81952 0 rs779443682 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000058 0.000000 0.000053 0.000000 0.000048 0.000000 0.000000 0.000058 9 0 2 0 1 0 6 0 0 275186 23974 34412 10120 18846 30776 124838 25788 6432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 2 0 1 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM84599 Pancreas 0.000566 1766 transition C T C>T 1.000 2.546 R Arg CGG 0.207 W Trp TGG 1.000 532 16 10 Opossum -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.04 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . FBXO41:uc021vjh.1:exon5:c.C1594T:p.R532W FBXO41:NM_001080410:exon5:c.C1594T:p.R532W . . 0.5531915 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.718 . @ . . . . . 1 0.983 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R532W|FBXO41|mRNA|CODING|NM_001080410|NM_001080410.ex.5) . . . . . . . 0.3149 0.305 0.315 c . . . . . 2.396e-05 . . . 0 2.246e-05 8.684e-05 0 0 2.418e-05 0 0 0 2.852e-05 8.943e-05 0 0 3.698e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.517 @ . . . 0.4 0.34 182 ENSG00000163013 FBXO41 FBXO41 . . . 1.000 0.467 . . . . . . . Uncertain_significance . 0 . 0.166 . . . . T 0.396 0.018 . . 37 . 0.527 . . 0.549 . . . 0.315 0.415 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.324 . . 0 0 0 0 0 0 . 0.764 . . 0.563 . . . . . . 0 0.419 . . . . . 0.432 . 0.536 . HET 0.01 rs779443682 . . . . . . ID\x3dCOSM84599\x3bOCCURENCE\x3d1(pancreas) . . . . . 10.397 . . V.26 IV.37 . 0.010000 Q8TF61 . . . . . 0.712 . . IV.37 0 3.275e-05 5.957e-05 0 5.806e-05 0 4.551e-05 0 0 0 3.234e-05 0 0 0 0 6.676e-05 0 . . 0.522 . 1.409 1.409000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.365 0.399 . 0.512 . 0.658 1.409 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 2 73900002 C T - ALMS1P1 29586 ALMS1, centrosome and basal body associated protein pseudogene 1 NR_003683.2 1 1597 0 substitution exon GRCh37 73900002 73900002 Chr2(GRCh37):g.73900002C>T 562 562 NR_003683.2:n.562C>T 4 68 3' 85.4088 5.32143 0.118891 5.08946 85.4088 5.32143 0.118891 4.60077 0 transition C T C>T 0.000 -0.279 255 PASS . . . . . . . . . . . . ALMS1P:uc010yrl.2:exon4:c.C41T:p.T14I . . . 0.47686833 . . @ 134 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 281.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L188F|ALMS1P1|Non-coding_transcript|NON_CODING|NR_003683|NR_003683.ex.4) . . . . . . . -0.3796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000163016 ALMS1P ALMS1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,222 +rs116094901 2 73928414 G A - NAT8B 30235 N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) NM_016347.2 -1 832 684 NP_057431.2 Q9UHF3 substitution missense exon GRCh37 73928414 73928414 Chr2(GRCh37):g.73928414G>A 19 19 NM_016347.2:c.19C>T p.Arg7Cys p.Arg7Cys 1 608190 rs116094901 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000800 0.004100 0.005000 0.009900 0.007200 0.004022 0.001103 0.002205 0.006495 0.007555 0.004121 0.005087 0.000287 0.005068 0.007555 1031 26 72 51 141 107 597 7 30 256324 23564 32646 7852 18664 25964 117360 24354 5920 0.000039 0.000000 0.000000 0.000000 0.000000 0.000077 0.000068 0.000000 0.000000 5 0 0 0 0 1 4 0 0 1021 26 72 51 141 105 589 7 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8519 4309 12828 53 9 62 0.00618292 0.0020843 0.00480993 0.00618292 0.0020843 0.00480993 62 transition C T C>T 1.000 2.062 R Arg CGC 0.190 C Cys TGC 0.552 7 15 13 Opossum -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 III.18 bad 1.259E-5 5.461E-5 255 PASS . 0.01 0.01 0.0035 0.01 0.0008 0.005 0.0072 0.005 0.0099 0.0041 . NAT8B:uc002sjk.1:exon1:c.C19T:p.R7C UNKNOWN . . 0.33974358 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 156.0 . . . 0.0021 0.0048 0.0062 0.0021 0.0048 0.0062 . 1.1646 . . . . . . . . 3.940e-03 . . . 0.0010 0.0048 0.0030 0.0089 0.0008 0.0061 0 0.0051 0.0010 0.0039 0.0028 0.0059 0.0006 0.0045 0 0.0051 . nonsynonymous_SNV unknown . . . ncRNA_exonic exonic exonic . . . 0.0050 . . . 0.41 0.39 182 ENSG00000204872 NAT8B NAT8B . . . . . . 251 0.00386296 64976 226 0.00376755 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116094901 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004810 . . . . III.29 0.0010 0.0041 0.0023 0.0065 0.0072 0.0003 0.0052 0.0053 0.0041 0.0013 0.0033 0 0.0066 0.0111 0 0.0045 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs116094901 rs116094901 1 1538 10 1/0 0,230,255 +rs79144580 2 74273383 T C - TET3 28313 Tet methylcytosine dioxygenase 3 NM_001287491.1 1 11388 5388 NP_001274420.1 substitution intron GRCh37 74273383 74273383 Chr2(GRCh37):g.74273383T>C 361-22 361-22 NM_001287491.1:c.361-22T>C p.? p.? 3 2 613555 -22 3' 81.4718 12.374 0.998029 XII.93 81.4718 12.374 0.998029 XII.62 0 rs79144580 yes no Frequency 1 T 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000000 0.000043 0.000000 0.000000 0.000043 4 0 0 0 0 0 4 0 0 189210 22032 17588 3266 15386 13196 92642 21012 4088 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.117 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||TET3|mRNA|CODING|NM_001287491|) . . . . . . . 0.1595 . . . . . . . . 1.724e-05 . . . 0 2.788e-05 0 0 0 2.888e-05 0 0.0001 0 2.291e-05 0 0 0 2.115e-05 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.13 182 ENSG00000187605 TET3 TET3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs79144580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.894e-05 0 0 0 0 3.861e-05 0 0 0 3.241e-05 0 0 0 0 6.695e-05 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs79144580 rs79144580 1 1538 10 1/0 0,255,255 +. 2 79253987 ATAGGGGAAAGTCCATG A - REG3G 29595 Regenerating islet-derived 3 gamma NM_001008387.2 1 955 528 NP_001008388.1 Q6UW15 deletion intron GRCh37 79253988 79254003 Chr2(GRCh37):g.79253988_79254003del 195+31 195+46 NM_001008387.2:c.195+31_195+46del p.? p.? 3 3 609933 31 5' 79.968 7.76791 0.86395 4.42254 79.968 7.76791 0.86395 4.91787 0 Cryptic Donor Strongly Activated 79253983 3.12578 0.070611 74.8613 III.22 0.082311 74.5581 rs775263626 yes no Frequency 1 0.000000 0 0.000047 0.000000 0.000000 0.000000 0.000000 0.000000 0.000098 0.000000 0.000000 0.000098 10 0 0 0 0 0 10 0 0 212686 16958 26270 7318 14474 19936 102470 20348 4912 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 2 0 0 0 0 0 2 0 0 6 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6557 2862 9419 608 498 1106 0.0848569 0.148214 0.105083 0.0848569 0.148214 0.105083 63 TAGGGGAAAGTCCATG 255 Pass . . . . . . . . . . . . . . . . 0.16470589 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 85 . . . . . . 0.12 0.088 0.074 . . . . . . . . . . 6.401e-05 . . . 0 6.998e-05 0 0 0 0.0001 0 0 0 2.367e-05 0 0 0 4.35e-05 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000143954 REG3G REG3G . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs775263626 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522260 . . . . . . 0 3.676e-05 0 0 0 0 7.696e-05 0 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,78 +rs762770594 2 79254005 A C - REG3G 29595 Regenerating islet-derived 3 gamma NM_001008387.2 1 955 528 NP_001008388.1 Q6UW15 substitution intron GRCh37 79254005 79254005 Chr2(GRCh37):g.79254005A>C 195+48 195+48 NM_001008387.2:c.195+48A>C p.? p.? 3 3 609933 48 5' 79.968 7.76791 0.86395 4.42254 79.968 7.76791 0.86395 4.22362 0 Cryptic Acceptor Strongly Activated 79254014 0.015184 3.50089 0.079242 75.4975 rs762770594 yes no Frequency 1 A 0.000000 0 transversion A C A>C 0.000 -1.974 201 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . -0.3889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000143954 REG3G REG3G . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +. 2 84915584 C G - DNAH6 2951 Dynein, axonemal, heavy chain 6 NM_001370.1 1 12795 12477 NP_001361.1 Q9C0G6 substitution missense exon GRCh37 84915584 84915584 Chr2(GRCh37):g.84915584C>G 7159 7159 NM_001370.1:c.7159C>G p.Arg2387Gly p.Arg2387Gly 45 603336 22 3' 66.381 6.51321 0.674799 I.37 66.381 6.51321 0.674799 0 0 transversion C G C>G 1.000 2.223 R Arg CGG 0.207 G Gly GGG 0.250 2387 18 15 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0.01 III.44 bad 2.958E-5 6.953E-5 255 PASS . . . . . . . . . . . . . DNAH6:NM_001370:exon45:c.C7159G:p.R2387G . . 0.3888889 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.909 . @ . . . . . 1 0.914 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R2387G|DNAH6|mRNA|CODING|NM_001370|NM_001370.ex.45) . . . . . . . 0.6977 0.645 0.698 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.276 . . exonic exonic exonic . . 0.620 @ . . . . . . ENSG00000115423 DNAH6 DNAH6 . . . 0.549 0.213 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.828 0.145 . . 37 . 0.650 . . 0.720 . . . 0.895 0.393 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.912 . . 0 0 0 0 0 0 . 0.764 . . 0.710 . . . . . . 0 0.721 . . . . . 0.563 . 0.756 . HET 0 . . . . . . . . . . . . . XII.89 . . V.73 IV.84 . 0.000000 . . . . . . 0.658 . . IV.84 . . . . . . . . . . . . . . . . . . . 0.133 . 1.385 1.385000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.337 0.325 . 0.594 . 0.383 1.385 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs140658686 2 85133318 C G - TMSB10 11879 Thymosin beta 10 NM_021103.3 1 482 135 NP_066926.1 P63313 substitution intron GRCh37 85133318 85133318 Chr2(GRCh37):g.85133318C>G 100+77 100+77 NM_021103.3:c.100+77C>G p.? p.? 2 2 188399 77 5' 74.2342 7.35828 0.901109 9.14957 74.2342 7.35828 0.901109 8.66135 0 rs140658686 yes no Frequency 1 C 0.000000 0 0.000680 0.000459 0.003589 0.000000 0.000000 0.000000 0.000937 0.000000 0.000000 0.003589 21 4 3 0 0 0 14 0 0 30874 8712 836 300 1622 0 14948 3482 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 4 3 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion C G C>G 0.031 0.609 255 PASS . . . . . . . . . . . . . . . . 0.39784947 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||TMSB10|mRNA|CODING|NM_021103|) . . . . . . . I.05 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.3 182 ENSG00000034510 TMSB10 TMSB10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140658686 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv4201n71 . . . . . . . . . . . . . . . 0.0005 0.0007 0.0036 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs140658686 rs140658686 1 1538 10 1/0 0,255,255 +rs34197986 2 85895072 T A - SFTPB 10801 Surfactant protein B NM_198843.2 -1 2840 1182 NP_942140.2 substitution intron GRCh37 85895072 85895072 Chr2(GRCh37):g.85895072T>A 104-143 104-143 NM_198843.2:c.104-143A>T p.? p.? 3 2 178640 -143 3' 64.0669 3.73847 0.003997 1.03462 64.0669 3.73847 0.003997 1.03462 0 rs34197986 yes no Frequency 1 T 0.000000 0 0.000711 0.000000 0.000000 0.003311 0.000000 0.000000 0.001400 0.000000 0.000000 0.003311 22 0 0 1 0 0 21 0 0 30964 8730 838 302 1620 0 15000 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 1 0 0 21 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transversion A T A>T 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.0616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.28 182 ENSG00000168878 SFTPB SFTPB . . . . . . 17 0.000261635 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34197986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.56 . . . . . . . . . 0 0.0007 0 0.0033 0 0 0.0014 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34197986 rs34197986 rs34197986 rs34197986 1 1538 10 1/0 0,255,255 +rs34973238 2 85895076 C T - SFTPB 10801 Surfactant protein B NM_198843.2 -1 2840 1182 NP_942140.2 substitution intron GRCh37 85895076 85895076 Chr2(GRCh37):g.85895076C>T 104-147 104-147 NM_198843.2:c.104-147G>A p.? p.? 3 2 178640 -147 3' 64.0669 3.73847 0.003997 1.03462 64.0669 3.73847 0.003997 1.03462 0 rs34973238 yes no Frequency 1 C 0.000000 0 0.000710 0.000000 0.000000 0.003311 0.000000 0.000000 0.001400 0.000000 0.000000 0.003311 22 0 0 1 0 0 21 0 0 30966 8730 838 302 1620 0 15000 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 1 0 0 21 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . 0.0401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.17 0.27 182 ENSG00000168878 SFTPB SFTPB . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34973238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0 0.0033 0 0 0.0014 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34973238 rs34973238 rs34973238 rs34973238 1 1538 10 1/0 0,255,255 +rs199606560 2 86271391 C T - POLR1A 17264 RNA polymerase I subunit A NM_015425.5 -1 12749 5163 NP_056240.2 O95602 substitution synonymous exon GRCh37 86271391 86271391 Chr2(GRCh37):g.86271391C>T 3006 3006 NM_015425.5:c.3006G>A p.Gln1002= p.Gln1002Gln 22 616404 37 3' 89.2964 8.23038 0.494974 4.18938 89.2964 8.23038 0.494974 4.23676 0 RNA polymerase Rpb1, domain 5 rs199606560 yes no Frequency/1000G 2 C 0.000000 0 0.009185 0.000000 0.046000 0.000000 0.000000 0.001400 0.007161 0.000583 0.001424 0.013593 0.000106 0.035865 0.004504 0.002636 0.006041 0.035865 1984 14 49 138 2 1104 570 68 39 277052 24022 34418 10152 18864 30782 126566 25792 6456 0.000245 0.000000 0.000058 0.000197 0.000000 0.001884 0.000032 0.000078 0.000000 34 0 1 1 0 29 2 1 0 1916 14 47 136 2 1046 566 66 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8461 4271 12732 29 1 30 0.00341578 0.000234082 0.00235073 0.00341578 0.000234082 0.00235073 105 transition G A G>A 1.000 2.950 Q Gln CAG 0.744 Q Gln CAA 0.256 1002 255 PASS . 0.0014 0.01 . 0.0013 . 0.0092 0.0014 . . 0.046 . . POLR1A:NM_015425:exon22:c.G3006A:p.Q1002Q . . 0.41916168 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 167.0 . . SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q1002|POLR1A|mRNA|CODING|NM_015425|NM_015425.ex.22) 0.0002 0.0024 0.0034 0.0002 0.0024 0.0034 . I.74 . . . . . . . . 7.982e-03 . . . 0.0004 0.0095 0.0020 0 0.0008 0.0054 0.0156 0.0356 0.0004 0.0085 0.0020 0 0.0017 0.0049 0.0203 0.0356 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0092 . . . 0.4 0.21 182 ENSG00000068654 POLR1A POLR1A . . . . . . 234 0.00360133 64976 188 0.00313406 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199606560 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3desv2751903 0.002351 . . . . IV.82 0.0005 0.0077 0.0014 0.0138 0.0001 0.0028 0.0045 0.0058 0.0359 0.0007 0.0030 0.0012 0.0066 0 0.0014 0.0049 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs199606560 rs199606560 1 1538 10 1/0 0,233,255 +rs199878581 2 87069463 T A - CD8B 1707 CD8b molecule NM_172213.3 -1 1061 732 NP_757362.1 substitution intron GRCh37 87069463 87069463 Chr2(GRCh37):g.87069463T>A 620+2582 620+2582 NM_172213.3:c.620+2582A>T p.? p.? 5 5 186730 2582 5' 78.6431 9.49083 0.990005 9.61906 78.6431 9.49083 0.990005 9.61906 0 rs199878581 yes no Frequency/1000G 2 T 0.000000 0 transversion A T A>T 0.024 0.044 209 PASS 0.002 0.02 0.03 . 0.04 . . . . . . . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . 0.5087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.4 182 ENSG00000172116 . CD8B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs199878581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . 0.04 . . rs199878581 rs199878581 1 1538 10 1/0 0,255,255 +rs62148300 2 87209821 C A - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution intron GRCh37 87209821 87209821 Chr2(GRCh37):g.87209821C>A 2557+1498 2557+1498 NM_001024457.3:c.2557+1498C>A p.? p.? 18 18 612704 1498 5' 89.8591 9.60237 0.940649 VI.05 89.8591 9.60237 0.940649 VI.05 0 rs62148300 no no 0 0.000000 0 transversion C A C>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.4347826 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.1926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.41 182 ENSG00000187627 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62148300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs56387632 rs56387632 rs56387632 rs56387632 1 1538 10 1/0 0,255,255 +. 2 87212716 A G - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution synonymous exon GRCh37 87212716 87212716 Chr2(GRCh37):g.87212716A>G 2670 2670 NM_001024457.3:c.2670A>G p.Glu890= p.Glu890Glu 20 612704 18 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.951648 6.09478 0.00961215 transition A G A>G 0.984 -0.279 E Glu GAA 0.417 E Glu GAG 0.583 890 255 PASS . . . . . . . . . . . . . . . . 0.5294118 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.4022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.55 182 ENSG00000187627 RGPD1 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80197863 rs80197863 1 1538 10 1/0 0,255,255 +rs62148321 2 87212781 C T - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution missense exon GRCh37 87212781 87212781 Chr2(GRCh37):g.87212781C>T 2735 2735 NM_001024457.3:c.2735C>T p.Ser912Leu p.Ser912Leu 20 612704 83 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 Cryptic Acceptor Weakly Activated 87212790 4.69439 0.000653 76.2702 IV.43 0.000935 78.9821 rs62148321 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 910 2 240 50 140 92 352 4 30 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 242 Exomes transition C T C>T 0.772 0.125 S Ser TCG 0.056 L Leu TTG 0.127 912 13 4 Frog -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Tolerated 0.44 III.69 good 4.014E-1 0.06043 229 PASS . . . . . . . . . . . . . . . . 0.23846154 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.242 . @ . . . . . 1 0.184 . . 130.0 . . . . . . . . . . -0.6253 -0.595 -0.625 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.407 . . exonic exonic exonic . . 0.195 @ . . . 0.48 0.59 182 ENSG00000187627 RGPD1 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.250 0.009 . . 37 . 0.193 . . 0.044 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.437 . . 0 0 0 0 0 0 . 0.385 . . 0.255 . . . . . . 0 0.363 . . . . . 0.220 . 0.109 . HET 0.02 rs62148321 . . . . . . . . . . . . VI.95 . . II.35 1.XI . 0.010000 . . . . . . 0.329 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.428 . 0.148 0.148000 . . 0.010000 . . 1.0E-229 0.999 0.424 . 0.189 0.350 . 0.366 . 0.002 0.148 -1.409 . rs3207980 rs3207980 rs3207980 rs3207980 1 1538 10 1/0 0,227,255 +. 2 87212868 A G - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution missense exon GRCh37 87212868 87212868 Chr2(GRCh37):g.87212868A>G 2822 2822 NM_001024457.3:c.2822A>G p.Asn941Ser p.Asn941Ser 20 612704 170 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 transition A G A>G 0.307 1.255 N Asn AAT 0.464 S Ser AGT 0.149 941 13 7 Rabbit 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.12 III.69 good 1.487E-2 0.0004216 186 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.057 . . 168.0 . . . . . . . . . . -0.7440 -0.743 -0.744 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.389 . . exonic exonic exonic . . 0.182 @ . . . 0.56 0.62 182 ENSG00000187627 RGPD1 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.138 0.005 . . 37 . 0.277 . . 0.248 . . . 0.372 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.379 . . 0 0 0 0 0 0 . 0.248 . . 0.210 . . . . . . 0 0.057 . . . . . 0.205 . 0.004 . LowAF 0.15 . . . . . . . . . . . . . VI.66 . . 2.III 0.885 . 0.750000 . . . . . . 0.469 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 1.068 1.068000 . . 0.750000 . . 1.0E-186 0.566 0.272 . 0.486 0.902 . 0.270 . 0.321 1.068 0.020 . rs7562548 rs7562548 rs7562548 rs7562548 1 1538 10 1/0 0,206,255 +rs772456874 2 87213376 A G - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution synonymous exon GRCh37 87213376 87213376 Chr2(GRCh37):g.87213376A>G 3330 3330 NM_001024457.3:c.3330A>G p.Ser1110= p.Ser1110Ser 20 612704 678 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 Cryptic Acceptor Strongly Activated 87213382 0.007844 3.0528 0.010401 65.1935 Ran binding protein 1 rs772456874 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.984 -0.360 S Ser TCA 0.148 S Ser TCG 0.056 1110 230 PASS . . . . . . . . . . . . . . . . 0.24257426 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 202.0 . . . . . . . . . . 0.1905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000187627 RGPD1 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs772456874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +. 2 87239599 A ATT - PLGLB1 9072 Plasminogen-like B1 NM_001032392.2 -1 3011 291 NP_001027564.1 Q02325 duplication 3'UTR GRCh37 87239599 87239600 Chr2(GRCh37):g.87239600_87239601dup *643 *644 NM_001032392.2:c.*643_*644dup p.? p.? 4 173340 643 3' 79.3221 VII.44 0.25903 5.15741 79.3221 VII.44 0.25903 5.15741 0 AA 255 Pass . . . . . . . . . . . . . . . . 0.20289855 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000183281 PLGLB2 . ENST00000355705:c.*644_*645insAA uc002ssd.3:c.*644_*645insAA NM_001032392:c.*644_*645insAA\x3bNM_002665:c.*644_*645insAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,69 +. 2 87239599 A ATT - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 duplication intron GRCh37 87239610 87239611 Chr2(GRCh37):g.87239609_87239610dup 5213-27 5213-26 NM_001024457.3:c.5213-27_5213-26dup p.? p.? 23 22 612704 -25 3' 86.5186 9.35637 0.965526 6.15954 86.5186 9.35637 0.965526 6.31691 0 TT 255 Pass . . . . . . . . . . . . . . . . 0.20289855 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000183281 PLGLB2 . ENST00000355705:c.*644_*645insAA uc002ssd.3:c.*644_*645insAA NM_001032392:c.*644_*645insAA\x3bNM_002665:c.*644_*645insAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,69 +rs62148336 2 87239696 C A - PLGLB1 9072 Plasminogen-like B1 NM_001032392.2 -1 3011 291 NP_001027564.1 Q02325 substitution 3'UTR GRCh37 87239696 87239696 Chr2(GRCh37):g.87239696C>A *548 *548 NM_001032392.2:c.*548G>T p.? p.? 4 173340 547 3' 79.3221 VII.44 0.25903 5.15741 79.3221 VII.44 0.25903 5.15741 0 Cryptic Acceptor Strongly Activated 87239687 0.816224 0.044674 73.8252 3.17434 0.373574 79.2779 rs62148336 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 10 0 0 8 8 2 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G T G>T 0.004 -0.279 243 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.3581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.44 0.69 182 . . . . . NM_001032392:c.*548G>T\x3bNM_002665:c.*548G>T\x3bNM_001024457:c.*26C>A\x3bNM_001078170:c.*26C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62148336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 0 0 . 0 . . . 0 . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . rs1049638 rs1049638 rs1049638 rs1049638 1 1538 10 1/0 0,255,255 +rs62148336 2 87239696 C A - RGPD1 32414 RANBP2-like and GRIP domain containing 1 NM_001024457.3 1 6692 5247 NP_001019628.3 Q68DN6 substitution 3'UTR GRCh37 87239696 87239696 Chr2(GRCh37):g.87239696C>A *26 *26 NM_001024457.3:c.*26C>A p.? p.? 23 612704 61 3' 86.5186 9.35637 0.965526 6.15954 86.5186 9.35637 0.965526 6.45682 0 Cryptic Donor Strongly Activated 87239692 0.0043 58.0097 0.775323 0.050936 68.795 rs62148336 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 10 0 0 8 8 2 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.004 -0.279 243 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.3581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.44 0.69 182 . . . . . NM_001032392:c.*548G>T\x3bNM_002665:c.*548G>T\x3bNM_001024457:c.*26C>A\x3bNM_001078170:c.*26C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62148336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 0 0 . 0 . . . 0 . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . rs1049638 rs1049638 rs1049638 rs1049638 1 1538 10 1/0 0,255,255 +. (chr2:87258051 ACAAT/A) 2 87258051 ACAAT A Not on a known gene +rs2612889 (chr2:87355854 A/G) 2 87355854 A G Not on a known gene +rs2010034 (chr2:87390066 C/T) 2 87390066 C T Not on a known gene +. (chr2:88013790 C/G) 2 88013790 C G Not on a known gene +. (chr2:88032147 G/A) 2 88032147 G A Not on a known gene +. 2 88083189 T C - RGPD2 32415 RANBP2-like and GRIP domain containing 2 NM_001078170.2 -1 5503 5271 NP_001071638.2 substitution synonymous exon GRCh37 88083189 88083189 Chr2(GRCh37):g.88083189T>C 3354 3354 NM_001078170.2:c.3354A>G p.Ser1118= p.Ser1118Ser 20 612705 678 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 Cryptic Acceptor Strongly Activated 88083183 0.007844 3.0528 0.010401 65.1935 Ran binding protein 1 0.005359 0.018519 0.004476 0.000000 0.001730 0.008491 0.000000 0.000000 0.000000 0.018519 23 6 7 0 1 9 0 0 0 4292 324 1564 24 578 1060 542 40 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 6 7 0 1 9 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5427887 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.984 -0.360 S Ser TCA 0.148 S Ser TCG 0.056 1118 242 PASS . . . . . . . . . . . . . . . . 0.27860695 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 201.0 . . . . . . . . . . 0.2478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185304 RGPD1 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0185 0.0054 0.0045 0 0.0017 0 0 0 0.0085 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +. 2 88083697 T C - RGPD2 32415 RANBP2-like and GRIP domain containing 2 NM_001078170.2 -1 5503 5271 NP_001071638.2 substitution missense exon GRCh37 88083697 88083697 Chr2(GRCh37):g.88083697T>C 2846 2846 NM_001078170.2:c.2846A>G p.Asn949Ser p.Asn949Ser 20 612705 170 3' 90.9886 X.91 0.924975 V.34 90.9886 X.91 0.924975 V.34 0 0.009337 0.001548 0.012000 0.000000 0.000000 0.000000 0.015067 0.008287 0.020408 0.015067 51 2 3 0 0 0 27 15 4 5462 1292 250 24 98 0 1792 1810 196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 2 3 0 0 0 27 15 4 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition A G A>G 0.315 1.255 N Asn AAT 0.464 S Ser AGT 0.149 949 13 7 Rabbit 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.12 III.69 good 1.487E-2 0.0004219 188 PASS . . . . . . . . . . . . . . . . 0.13138686 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.059 . . 137.0 . . . . . . . . . . -0.7885 -0.754 -0.788 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.390 . . exonic exonic exonic . . 0.185 @ . . . 0.51 0.35 182 ENSG00000185304 RGPD1 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.228 . . 0.231 . . . 0.372 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.379 . . 0 0 0 0 0 0 . 0.234 . . 0.184 . . . . . . 0 0.064 . . . . . 0.206 . 0.003 . LowAF 0.15 . . . . . . . . . . . . . VI.62 . . II.33 0.926 . 0.690000 B4DYH0 . . . . . 0.442 . . . . . . . . . . . . 0.0015 0.0093 0.012 0 0 0.0083 0.0151 0.0204 . . 0.428 . 1.072 1.072000 . . 0.690000 . . 1.0E-188 0.971 0.341 . 0.476 0.819 . 0.226 . 0.298 1.072 -0.013 . rs7562548 rs7562548 rs7562548 rs7562548 1 1538 10 1/0 0,215,255 +rs75347118 2 89100619 C T - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100619 89100619 Chr2(GRCh37):g.89100619C>T 1059 1059 NR_015424.1:n.1059C>T 13 4 3' 81.5785 5.79797 0.042132 0 81.5785 5.79797 0.048537 0 0.0506741 rs75347118 no no 0 C 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 0.000000 0.000000 0.000136 2 0 0 0 0 0 2 0 0 30624 8734 832 288 1618 0 14690 3494 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.681 0.690 233 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.C283T:p.L95L . . . 0.25581396 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N353|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . 0.1416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.35 0.06 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75347118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.531e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . rs75347118 rs75347118 1 1538 10 1/0 0,255,255 +rs78731551 2 89100657 G A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100657 89100657 Chr2(GRCh37):g.89100657G>A 1097 1097 NR_015424.1:n.1097G>A 13 42 3' 81.5785 5.79797 0.042132 0 81.5785 5.79797 0.042132 0 0 rs78731551 no no 0 A 0.000000 0 0.001055 0.000000 0.000000 0.007299 0.000000 0.000000 0.001940 0.000000 0.002088 0.007299 32 0 0 2 0 0 28 0 2 30328 8728 828 274 1616 0 14432 3492 958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 0 0 2 0 0 28 0 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.008 -1.489 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.G321A:p.K107K . . . 0.3653846 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R366K|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.5346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.39 0.09 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78731551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0 0.0073 0 0 0.0019 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78731551 rs78731551 1 1538 10 1/0 0,255,255 +rs74666411 2 89100697 C G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100697 89100697 Chr2(GRCh37):g.89100697C>G 1137 1137 NR_015424.1:n.1137C>G 13 82 3' 81.5785 5.79797 0.042132 0 81.5785 5.79797 0.042132 0 0 rs74666411 no no 0 C 0.000000 0 0.004404 0.000000 0.003713 0.031008 0.000000 0.000000 0.008410 0.000000 0.002141 0.031008 132 0 3 8 0 0 119 0 2 29974 8714 808 258 1618 0 14150 3492 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132 0 3 8 0 0 119 0 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transversion C G C>G 0.000 -0.279 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.C361G:p.Q121E . . . 0.44642857 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 56.0 . . STOP_GAINED(HIGH|NONSENSE|taC/taG|Y379*|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.1518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.39 0.09 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74666411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0044 0.0037 0.0310 0 0 0.0084 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74666411 rs74666411 1 1538 10 1/0 0,255,255 +rs79584169 2 89100701 A G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100701 89100701 Chr2(GRCh37):g.89100701A>G 1141 1141 NR_015424.1:n.1141A>G 13 86 3' 81.5785 5.79797 0.042132 0 81.5785 5.79797 0.042132 0 0 rs79584169 no no 0 A 0.000000 0 0.005527 0.000000 0.003704 0.038168 0.000000 0.000000 0.010568 0.000000 0.003212 0.038168 166 0 3 10 0 0 150 0 3 30032 8724 810 262 1618 0 14194 3490 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 166 0 3 10 0 0 150 0 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition A G A>G 0.000 0.609 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.A365G:p.N122S . . . 0.45 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T381A|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.0095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.41 0.11 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79584169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0055 0.0037 0.0382 0 0 0.0106 0.0032 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79584169 rs79584169 1 1538 10 1/0 0,255,255 +rs75572943 2 89100725 G A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100725 89100725 Chr2(GRCh37):g.89100725G>A 1165 1165 NR_015424.1:n.1165G>A 13 -98 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 1.02449 0 rs75572943 yes no Frequency/1000G 2 G 0.000000 0 0.009878 0.000345 0.006173 0.052632 0.000000 0.000000 0.018516 0.000000 0.010661 0.052632 298 3 5 14 0 0 266 0 10 30168 8708 810 266 1618 0 14366 3462 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 298 3 5 14 0 0 266 0 10 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.000 -0.198 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.G389A:p.R130H . . . 0.5471698 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A389T|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.4367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.56 0.21 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75572943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0099 0.0062 0.0526 0 0 0.0185 0.0107 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75572943 rs75572943 1 1538 10 1/0 0,255,255 +rs73956140 2 89100759 A C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100759 89100759 Chr2(GRCh37):g.89100759A>C 1199 1199 NR_015424.1:n.1199A>C 13 -64 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 1.73305 0 rs73956140 no no 0 A 0.000000 0 0.006253 0.000230 0.003686 0.044776 0.000000 0.000000 0.011518 0.000000 0.007463 0.044776 188 2 3 12 0 0 164 0 7 30064 8710 814 268 1620 0 14238 3476 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 188 2 3 12 0 0 164 0 7 0 0 0 0 0 0 0 0 0 RF 41 Genomes transversion A C A>C 0.000 -1.167 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.A423C:p.V141V . . . 0.4 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 40.0 . . STOP_LOST(HIGH|MISSENSE|tAa/tCa|*400S|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.5085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.46 0.26 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73956140 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0063 0.0037 0.0448 0 0 0.0115 0.0075 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . rs73956140 rs73956140 rs73956140 1 1538 10 1/0 0,255,255 +rs74666751 2 89100764 A G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100764 89100764 Chr2(GRCh37):g.89100764A>G 1204 1204 NR_015424.1:n.1204A>G 13 -59 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 0.784957 0 rs74666751 yes no Frequency/1000G 2 A 0.000000 0 0.004698 0.000229 0.002463 0.033835 0.000000 0.000000 0.008533 0.000000 0.007447 0.033835 141 2 2 9 0 0 121 0 7 30010 8716 812 266 1620 0 14180 3476 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 141 2 2 9 0 0 121 0 7 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition A G A>G 0.020 0.609 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.A428G:p.E143G . . . 0.42105263 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N402D|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . 0.0043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.48 0.3 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74666751 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0047 0.0025 0.0338 0 0 0.0085 0.0074 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs74666751 rs74666751 1 1538 10 1/0 0,255,255 +rs112251260 2 89100805 A G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100805 89100805 Chr2(GRCh37):g.89100805A>G 1245 1245 NR_015424.1:n.1245A>G 13 -18 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 1.30957 0 rs112251260 no no 0 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000068 1 0 0 0 0 0 1 0 0 30528 8726 830 284 1620 0 14618 3488 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition A G A>G 0.496 -0.037 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.A469G:p.K157E . . . 0.39285713 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K415|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . 0.0226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.42 0.26 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112251260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.276e-05 0 0 0 0 6.841e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112251260 rs112251260 1 1538 10 1/0 0,0,0 +rs112658022 2 89100808 C A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89100808 89100808 Chr2(GRCh37):g.89100808C>A 1248 1248 NR_015424.1:n.1248C>A 13 -15 5' 84.8093 9.81513 0.993781 1.02449 84.8093 9.81513 0.993781 0.911707 0 rs112658022 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30558 8708 830 286 1612 0 14672 3486 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Genomes transversion C A C>A 0.543 -0.763 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon13:c.C472A:p.Q158K . . . 0.37037036 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S416R|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.13) . . . . . . . -0.2053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.44 0.19 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112658022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112658022 rs112658022 1 1538 10 1/0 0,0,0 +rs78708418 2 89103862 T C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89103862 89103862 Chr2(GRCh37):g.89103862T>C 1263-32 1263-32 NR_015424.1:n.1263-32T>C p.? p.? 14 13 -32 3' 83.6622 X.79 0.980507 6.41071 83.6622 X.79 0.980507 6.43797 0 89103864 -24.7594 rs78708418 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.7609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.21 0.09 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78708418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74263328 rs74263328 1 1538 10 1/0 0,255,255 +rs78447802 2 89103894 C T - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89103894 89103894 Chr2(GRCh37):g.89103894C>T 1263 1263 NR_015424.1:n.1263C>T 14 1 3' 83.6622 X.79 0.980507 6.41071 83.1765 10.236 0.983743 VI.82 -0.00187237 Cryptic Acceptor Strongly Activated 89103901 0.397755 0.727879 0.525404 rs78447802 no no 0 C 0.000000 0 transition C T C>T 0.047 -0.117 255 PASS . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon14:c.C487T:p.L163F . . . 0.37142858 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N421|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.14) . . . . . . . -0.1813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.36 0.19 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78447802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78447802 rs78447802 1 1538 10 1/0 0,255,255 +rs879028543 2 89104252 A T - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104252 89104252 Chr2(GRCh37):g.89104252A>T 1334-49 1334-49 NR_015424.1:n.1334-49A>T p.? p.? 15 14 -49 3' 70.7776 4.79558 0.442123 0 70.7776 4.79558 0.442123 0 0 89104252 -73.1337 rs879028543 no no 0 A 0.000000 0 transversion A T A>T 0.000 -0.844 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.4541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs113686823 2 89104259 A C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104259 89104259 Chr2(GRCh37):g.89104259A>C 1334-42 1334-42 NR_015424.1:n.1334-42A>C p.? p.? 15 14 -42 3' 70.7776 4.79558 0.442123 0 70.7776 4.79558 0.442123 0 0 rs113686823 no no 0 A 0.000000 0 transversion A C A>C 0.008 0.690 255 PASS . . . . . . . . . . . . . . . . 0.39473686 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.2232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.29 0.14 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113686823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113686823 rs113686823 1 1538 10 1/0 0,255,255 +rs79982988 2 89104266 G A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104266 89104266 Chr2(GRCh37):g.89104266G>A 1334-35 1334-35 NR_015424.1:n.1334-35G>A p.? p.? 15 14 -35 3' 70.7776 4.79558 0.442123 0 70.7776 4.79558 0.442123 0 0 Cryptic Donor Strongly Activated 89104267 0.506019 0.006754 64.6049 1.03755 0.077095 73.5657 rs79982988 yes no Frequency 1 G 0.000000 0 transition G A G>A 0.051 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.3902439 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.4898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.27 0.19 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79982988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79982988 rs79982988 1 1538 10 1/0 0,255,255 +rs368889268 2 89104284 T G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104284 89104284 Chr2(GRCh37):g.89104284T>G 1334-17 1334-17 NR_015424.1:n.1334-17T>G p.? p.? 15 14 -17 3' 70.7776 4.79558 0.442123 0 70.7776 2.85509 0.200961 0 -0.316701 89104286 -25.7487 rs368889268 no no 0 T 0.000000 0 transversion T G T>G 0.232 -0.924 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.3107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs368889268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs368889268 rs368889268 1 1538 10 1/0 0,255,255 +rs77716262 2 89104334 T G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution exon GRCh37 89104334 89104334 Chr2(GRCh37):g.89104334T>G 1367 1367 NR_015424.1:n.1367T>G 15 34 3' 70.7776 4.79558 0.442123 0 70.7776 4.79558 0.442123 0 0 rs77716262 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.002300 0.000000 0.002000 0.002000 0.002900 0.000368 0.000393 0.001316 0.000000 0.000000 0.000000 0.000152 0.001007 0.001168 0.001316 10 3 1 0 0 0 2 3 1 27138 7638 760 282 1452 0 13172 2978 856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 1 0 0 0 2 3 1 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion T G T>G 0.000 -0.198 164 PASS . . . . . 0.0023 0.0018 0.0029 0.002 0.002 . . ANKRD36BP2:uc010fhg.4:exon15:c.T591G:p.T197T . . . 0.43076923 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 65.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTa/cGa|L456R|ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.15) . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0018 . . . 0.32 0.3 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77716262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0013 0 0 0.0010 0.0002 0.0012 . . . . . . . . . . . 1.0E-164 . . . . . . . . . . . . . . rs77716262 rs77716262 1 1538 10 1/0 0,255,255 +rs4020366 2 89104882 C A - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104882 89104882 Chr2(GRCh37):g.89104882C>A 1428-11 1428-11 NR_015424.1:n.1428-11C>A p.? p.? 16 15 -11 3' 91.1404 9.07743 0.955744 2.22883 88.857 8.44615 0.919953 2.34608 -0.0440153 rs4020366 no no 0 C 0.000000 0 0.004082 0.000243 0.005848 0.008403 0.000000 0.000000 0.005277 0.011570 0.006158 0.011570 111 2 4 2 0 0 70 28 5 27194 8236 684 238 1538 0 13266 2420 812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 2 4 2 0 0 70 28 5 0 0 0 0 0 0 0 0 0 RF 51 Genomes transversion C A C>A 0.870 -0.198 241 PASS . . . . . . . . . . . . . . . . 0.27868852 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . 0.1298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.25 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4020366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0041 0.0058 0.0084 0 0.0116 0.0053 0.0062 . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . rs4020366 rs4020366 rs4020366 rs4020366 1 1538 10 1/0 0,255,255 +. 2 89104896 C CTG - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 insertion exon GRCh37 89104896 89104897 Chr2(GRCh37):g.89104896_89104897insTG 1431 1432 NR_015424.1:n.1431_1432insTG 16 4 3' 91.1404 9.07743 0.955744 2.22883 91.1404 9.07743 0.839944 2.71063 -0.0403874 TG 255 Pass . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon16:c.655_656insTG:p.P219fs . . . 0.1923077 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 78 . . FRAME_SHIFT(HIGH||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.16) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs5832744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs5832744 rs5832744 rs5832744 1 1538 10 1.I 0,7,72 +. 2 89104897 CA C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 deletion exon GRCh37 89104898 89104898 Chr2(GRCh37):g.89104898del 1433 1433 NR_015424.1:n.1433del 16 6 3' 91.1404 9.07743 0.955744 2.22883 91.1404 9.07743 0.941206 1.73551 -0.0050704 rs62996860 no no 0 A 0.000000 0 A 255 Pass . . . . . . . . . . . . ANKRD36BP2:uc010fhg.4:exon16:c.657delA:p.P219fs . . . 0.18518518 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 81 . . FRAME_SHIFT(HIGH||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|NR_015424.ex.16) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62996860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62996860 rs62996860 rs62996860 rs62996860 1 1538 10 1.I 0,7,73 +rs1854389 2 89104959 T C - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104959 89104959 Chr2(GRCh37):g.89104959T>C 1457+37 1457+37 NR_015424.1:n.1457+37T>C p.? p.? 16 16 37 5' 89.5197 9.78772 0.981514 1.68002 89.5197 9.78772 0.981514 1.62773 0 rs1854389 no no 0 T 0.000000 0 transition T C T>C 0.008 -1.167 174 PASS . . . . . . . . . . . . . . . . 0.10185185 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.2985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.44 0.39 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs1854389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs1854389 rs1854389 rs1854389 rs1854389 1 1538 10 1/0 0,223,255 +rs3952533 2 89104978 C G - ANKRD36BP2 33607 Ankyrin repeat domain 36B pseudogene 2 NR_015424.1 1 1731 0 substitution intron GRCh37 89104978 89104978 Chr2(GRCh37):g.89104978C>G 1457+56 1457+56 NR_015424.1:n.1457+56C>G p.? p.? 16 16 56 5' 89.5197 9.78772 0.981514 1.68002 89.5197 9.78772 0.981514 1.47671 0 New Donor Site 89104977 8.59132 0.933171 78.1641 rs3952533 no no 0 C 0.000000 0 transversion C G C>G 0.055 -0.198 183 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . INTRON(MODIFIER||||ANKRD36BP2|Non-coding_transcript|NON_CODING|NR_015424|) . . . . . . . -0.4261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . 0.43 0.29 182 ENSG00000230006 ANKRD36BP2 ANKRD36BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3952533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs3952533 rs3952533 rs3952533 rs3952533 1 1538 10 1/0 0,255,255 +rs780218093 2 89326842 T C - IGKC 5716 Immunoglobulin kappa constant ENST00000614656.1 -1 824 711 ENSP00000478196 substitution intron GRCh37 89326842 89326842 Chr2(GRCh37):g.89326842T>C 351+12879 351+12879 ENST00000614656.1:c.351+12879A>G p.? p.? 2 2 147200 12879 5' 0 0 0 0 0 0 0 0 0 rs780218093 yes no Frequency 1 0.000000 0 0.000136 0.000726 0.000030 0.000310 0.000175 0.000000 0.000129 0.000000 0.000184 0.000726 33 11 1 3 3 0 14 0 1 242448 15150 33512 9682 17184 30754 108442 22298 5426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 11 1 3 3 0 14 0 1 0 0 0 0 0 0 0 0 0 RF 106 Exomes transition A G A>G 0.921 -0.924 195 PASS . . . . . . . . . . . ENSG00000241351:ENST00000483158:exon2:c.A171G:p.Q57Q . . . . 0.14814815 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2649 . . . . . . . . 4.569e-04 . . . 0.0017 0.0003 0.0003 0.0002 0 0.0002 0 0 0.0019 0.0003 0.0003 0.0003 0 0.0002 0 0 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.29 0.2 182 ENSG00000241351 abParts . . . dist\x3d214874\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs780218093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0001 2.984e-05 0.0003 0.0002 0 0.0001 0.0002 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . rs2847799 rs2847799 rs2847799 rs2847799 1 1538 10 1/0 0,255,255 +rs749889971 (chr2:89476517 G/T) 2 89476517 G T Not on a known gene +rs200048221 (chr2:89521389 C/G) 2 89521389 C G Not on a known gene +. (chr2:89596986 T/TG) 2 89596986 T TG Not on a known gene +rs11685562 (chr2:89630002 G/A) 2 89630002 G A Not on a known gene +rs775980820 (chr2:89999397 C/A) 2 89999397 C A Not on a known gene +. (chr2:90043734 C/A) 2 90043734 C A Not on a known gene +. (chr2:90274142 C/T) 2 90274142 C T Not on a known gene +rs369487290 (chr2:90458361 C/T) 2 90458361 C T Not on a known gene +. (chr2:90493302 G/A) 2 90493302 G A Not on a known gene +rs3871371 (chr2:91679340 A/C) 2 91679340 A C Not on a known gene +rs2433883 (chr2:91766609 G/A) 2 91766609 G A Not on a known gene +rs2580541 (chr2:91767507 T/A) 2 91767507 T A Not on a known gene +rs2536993 (chr2:91809227 A/G) 2 91809227 A G Not on a known gene +rs2310687 (chr2:91809385 C/G) 2 91809385 C G Not on a known gene +rs4244681 (chr2:91809402 T/G) 2 91809402 T G Not on a known gene +rs2215642 (chr2:91809404 G/C) 2 91809404 G C Not on a known gene +rs878896389 (chr2:91924967 C/T) 2 91924967 C T Not on a known gene +rs200581143 (chr2:91924972 G/A) 2 91924972 G A Not on a known gene +rs2659422 (chr2:91927088 G/A) 2 91927088 G A Not on a known gene +rs62143840 (chr2:91927214 T/C) 2 91927214 T C Not on a known gene +rs76228304 (chr2:91927230 C/T) 2 91927230 C T Not on a known gene +rs79762105 (chr2:91927231 A/G) 2 91927231 A G Not on a known gene +rs75714442 (chr2:91927284 T/C) 2 91927284 T C Not on a known gene +rs76634689 (chr2:91927343 T/C) 2 91927343 T C Not on a known gene +rs79958206 (chr2:91927356 G/A) 2 91927356 G A Not on a known gene +rs62143841 (chr2:91927406 A/C) 2 91927406 A C Not on a known gene +rs62143842 (chr2:91927482 A/G) 2 91927482 A G Not on a known gene +rs62143843 (chr2:91927489 G/A) 2 91927489 G A Not on a known gene +rs2456612 (chr2:91933025 C/T) 2 91933025 C T Not on a known gene +rs2456611 (chr2:91933207 T/C) 2 91933207 T C Not on a known gene +rs2659397 (chr2:91936030 A/G) 2 91936030 A G Not on a known gene +rs2659396 (chr2:91936054 T/C) 2 91936054 T C Not on a known gene +rs75268796 (chr2:91936121 A/G) 2 91936121 A G Not on a known gene +rs2659395 (chr2:91937662 A/G) 2 91937662 A G Not on a known gene +rs2659394 (chr2:91937699 C/T) 2 91937699 C T Not on a known gene +rs2456608 (chr2:91940245 A/C) 2 91940245 A C Not on a known gene +rs71422481 (chr2:91940250 T/C) 2 91940250 T C Not on a known gene +rs62145906 (chr2:91940297 C/T) 2 91940297 C T Not on a known gene +rs2456607 (chr2:91940306 G/A) 2 91940306 G A Not on a known gene +rs62142696 (chr2:91943835 T/C) 2 91943835 T C Not on a known gene +rs62142698 (chr2:91944151 C/T) 2 91944151 C T Not on a known gene +rs62142699 (chr2:91944161 G/A) 2 91944161 G A Not on a known gene +rs1890165 (chr2:91955313 G/A) 2 91955313 G A Not on a known gene +rs74324957 (chr2:91955375 G/A) 2 91955375 G A Not on a known gene +rs2659346 (chr2:91955404 T/C) 2 91955404 T C Not on a known gene +. (chr2:92005905 T/A) 2 92005905 T A Not on a known gene +. (chr2:92006020 G/C) 2 92006020 G C Not on a known gene +. (chr2:92006192 G/A) 2 92006192 G A Not on a known gene +. (chr2:92222630 C/T) 2 92222630 C T Not on a known gene +. (chr2:92222802 C/G) 2 92222802 C G Not on a known gene +. (chr2:92222851 G/A) 2 92222851 G A Not on a known gene +. (chr2:92222859 C/T) 2 92222859 C T Not on a known gene +. (chr2:92222917 A/T) 2 92222917 A T Not on a known gene +rs782454101 2 95481531 G A - ANKRD20A8P 23666 Ankyrin repeat domain 20 family, member A8, pseudogene NR_003366.2 -1 3670 0 substitution exon GRCh37 95481531 95481531 Chr2(GRCh37):g.95481531G>A 1534 1534 NR_003366.2:n.1534C>T 13 220 3' 91.8304 XII.49 0.97462 9.73058 91.8304 XII.49 0.97462 9.73058 0 rs782454101 yes no Frequency 1 G 0.000000 0 0.000036 0.000000 0.000031 0.000000 0.000278 0.000000 0.000026 0.000000 0.000000 0.000278 9 0 1 0 5 0 3 0 0 247206 21032 32304 9106 17960 28488 114098 18370 5848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 1 0 5 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.173 2.062 252 PASS . . . . . . . . . . . . ANKRD20A8P:uc010fhq.2:exon2:c.C457T:p.R153W . . . 0.3148148 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R512W|ANKRD20A8P|Non-coding_transcript|NON_CODING|NR_003366|NR_003366.ex.13) . . . . . . . 0.4249 . . . . . . . . 1.640e-05 . . . 0 2.76e-05 0 0 0 3.167e-05 0 6.369e-05 0 1.129e-05 0 0 0 0 0 6.403e-05 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000229089 ANKRD20A8P ANKRD20A8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.27 0 2.754e-05 3.173e-05 0 0.0001 0 2.99e-05 0 0 0 0.0001 0 0 0.0019 0 0 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs376155492 2 95513820 C T - ANKRD20A8P 23666 Ankyrin repeat domain 20 family, member A8, pseudogene NR_003366.2 -1 3670 0 substitution exon GRCh37 95513820 95513820 Chr2(GRCh37):g.95513820C>T 585 585 NR_003366.2:n.585G>A 5 -59 5' 87.5573 9.72159 0.994436 3.52995 87.5573 9.72159 0.994436 3.10299 0 Cryptic Acceptor Strongly Activated 95513813 1.55131 0.075012 77.5156 1.73001 0.085972 77.5156 rs376155492 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30976 8728 838 302 1622 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 51 Genomes transition G A G>A 0.000 -3.104 238 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S195|ANKRD20A8P|Non-coding_transcript|NON_CODING|NR_003366|NR_003366.ex.5) . . . . . . . -0.8513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000229089 . ANKRD20A8P . dist\x3d30274\x3bdist\x3d20602 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . rs376155492 rs376155492 1 1538 10 1/0 0,255,255 +rs201608529 2 95537570 C G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95537570 95537570 Chr2(GRCh37):g.95537570C>G 246 246 NM_144705.3:c.246C>G p.Arg82= p.Arg82Arg 1 -253 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs201608529 yes no Frequency 1 0.000000 0 transversion C G C>G 1.000 1.255 R Arg CGC 0.190 R Arg CGG 0.207 82 186 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.C246G:p.R82R TEKT4:NM_144705:exon1:c.C246G:p.R82R . . 0.12605043 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . 1.1338 . . . . . . . . 1.202e-04 . . . 0.0009 0.0002 0 0 0 0.0002 0 0 0.0010 0.0001 0 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.32 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs201608529 rs201608529 1 1538 10 1/0 0,221,255 +rs142275728 2 95537593 C G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95537593 95537593 Chr2(GRCh37):g.95537593C>G 269 269 NM_144705.3:c.269C>G p.Thr90Arg p.Thr90Arg 1 -230 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs142275728 yes no Frequency 1 0.000000 0 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30832 8700 820 302 1608 0 14952 3468 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes COSM4590788 Upper aerodigestive tract 0.002412 1244 transversion C G C>G 0.000 -1.247 T Thr ACA 0.280 R Arg AGA 0.205 90 12 2 Chimp -1 -1 -2 0.71 0.65 8.VI 10.V 61 124 71 C0 145.16 0.00 Tolerated 0.5 3.VII 184 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.C269G:p.T90R TEKT4:NM_144705:exon1:c.C269G:p.T90R . . 0.12195122 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.031 . . 123.0 . . . . . . . . . . -2.2222 -2.213 -2.222 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.038 @ . . . 0.19 0.27 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.996 0.344 . . . . . . . Uncertain_significance . 0 . 0.090 . . . . T 0.028 0.002 . . 37 . 0.006 . . 0.405 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.043 . . . . . 0.141 . 0.267 . LowAF 0.44 . . . . . . . . . . . . . 5.1143 . . I.97 -3.95 . 1.000000 Q8WW24 . . . . . 0.021 . . . . . . . . . . . . 0.0001 3.243e-05 0 0 0 0 0 0 . . 0.208 . -1.399 -1.399000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.083 0.057 . 0.020 . 0.006 -1.399 -0.609 . . . rs142275728 rs142275728 1 1538 10 1/0 0,219,255 +rs146717188 2 95537594 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95537594 95537594 Chr2(GRCh37):g.95537594A>G 270 270 NM_144705.3:c.270A>G p.Thr90= p.Thr90Thr 1 -229 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Cryptic Donor Strongly Activated 95537594 0.000968 58.4215 6.82506 0.019787 70.5575 Tektin rs146717188 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 228140 13410 32620 9514 16484 30086 102190 18644 5192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes transition A G A>G 0.000 -1.247 T Thr ACA 0.280 T Thr ACG 0.116 90 186 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.A270G:p.T90T TEKT4:NM_144705:exon1:c.A270G:p.T90T . . 0.12711865 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.2476 . . . . . . . . 7.997e-06 . . . 0 1.423e-05 0 0 0 3.228e-05 0 0 0 1.182e-05 0 0 0 2.321e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.27 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.383e-06 0 0 0 0 9.786e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs146717188 rs146717188 1 1538 10 1/0 0,221,255 +rs199695568 2 95537605 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95537605 95537605 Chr2(GRCh37):g.95537605G>A 281 281 NM_144705.3:c.281G>A p.Arg94Gln p.Arg94Gln 1 -218 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs199695568 yes no Frequency 1 0.000000 0 0.000190 0.000046 0.000061 0.000000 0.000338 0.000034 0.000305 0.000146 0.000000 0.000338 48 1 2 0 6 1 35 3 0 253138 21650 32910 9702 17738 29626 114854 20592 6066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 1 2 0 6 1 35 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3396495|COSM3396495|COSM3396495 Upper aerodigestive tract|Prostate|Large intestine 0.002412|0.000567|0.000443 1244|1764|2257 transition G A G>A 0.992 3.918 R Arg CGA 0.110 Q Gln CAA 0.256 94 12 12 Fruitfly 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C35 0.00 42.81 Deleterious 0 3.VII 180 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.G281A:p.R94Q TEKT4:NM_144705:exon1:c.G281A:p.R94Q . . 0.11278196 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.724 . @ . . . . . 1 0.975 . . 133.0 . . . . . . . . . . 0.3762 0.088 0.376 c . . . . . 2.316e-04 . . . 0.0001 0.0001 0.0001 0.0002 0.0004 0.0001 0 6.993e-05 0 0.0003 0.0001 0.0003 0.0002 0.0004 0 7.022e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.098 . . exonic exonic exonic . . 0.252 @ . . . 0.27 0.33 182 ENSG00000163060 TEKT4 TEKT4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.249 0.009 . . 37 . 0.392 . . 0.489 . . . 0.966 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.712 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.385 . 0.765 . LowAF 0 rs199695568 . . . . . . . . . . . . IX.16 . . I.97 I.97 . 0.000000 Q8WW24 . . . . . 0.597 . . . 7.718e-05 0.0002 6.233e-05 0 0.0004 0.0002 0.0003 0 3.375e-05 0 0.0001 0 0 0 0 0.0003 0 . . 0.208 . 1.094 1.094000 . . 0.000000 . . 1.0E-180 0.996 0.391 . 0.190 0.288 . 0.578 . 0.279 1.094 0.562 . . . rs199695568 rs199695568 1 1538 10 1/0 0,215,255 +rs111669261 2 95537633 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95537633 95537633 Chr2(GRCh37):g.95537633G>A 309 309 NM_144705.3:c.309G>A p.Ser103= p.Ser103Ser 1 -190 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs111669261 yes no Frequency 1 0.000000 0 0.000036 0.000047 0.000031 0.000104 0.000057 0.000000 0.000044 0.000000 0.000000 0.000104 9 1 1 1 1 0 5 0 0 248672 21246 32778 9616 17552 29224 113934 18344 5978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 1 1 1 0 5 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM722901|COSM722901 Lung|Large intestine 0.000419|0.000443 2388|2257 transition G A G>A 0.646 -1.409 S Ser TCG 0.056 S Ser TCA 0.148 103 187 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.G309A:p.S103S TEKT4:NM_144705:exon1:c.G309A:p.S103S . . 0.128 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 125.0 . . . . . . . . . . 0.5892 . . . . . . . . 1.435e-04 . . . 0.0009 0.0002 0 0 0 0.0002 0 0 0.0008 0.0001 0 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.29 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . ID\x3dCOSM722901\x3bOCCURENCE\x3d1(lung) . . . . . . . . . . . . . . . . . . . . . . 7.973e-05 4.132e-05 3.13e-05 0.0001 6.274e-05 0 5.052e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs111669261 rs111669261 1 1538 10 1/0 0,219,255 +rs77824556 2 95537649 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95537649 95537649 Chr2(GRCh37):g.95537649A>G 325 325 NM_144705.3:c.325A>G p.Met109Val p.Met109Val 1 -174 5' 66.5208 3.40953 0.119756 X.19 66.5208 3.40953 0.119756 X.19 0 Tektin rs77824556 yes no Frequency 1 0.000000 0 0.000016 0.000047 0.000000 0.000000 0.000000 0.000000 0.000017 0.000056 0.000000 0.000056 4 1 0 0 0 0 2 1 0 249622 21432 32974 9656 17682 29212 114894 17766 6006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4133979|COSM4133979 Upper aerodigestive tract|Thyroid 0.003215|0.001339 1244|747 transition A G A>G 0.008 0.044 M Met ATG 1.000 V Val GTG 0.468 109 12 1 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 28.68 0.00 Tolerated 0.32 3.VII 184 PASS . . . . . . . . . . . . TEKT4:uc002stw.1:exon1:c.A325G:p.M109V TEKT4:NM_144705:exon1:c.A325G:p.M109V . . 0.122137405 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.097 . @ . . . . . 1 0.030 . . 131.0 . . . . . . . . . . -1.3966 -1.383 -1.397 c . . . . . 1.114e-04 . . . 0.0005 0.0001 0 0 0 0.0002 0 0 0.0006 0.0001 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.072 @ . . . 0.15 0.25 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.956 0.282 . . . . . . . Uncertain_significance . 0 . 0.323 . . . . T 0.017 0.001 . . 37 . 0.007 . . 0.431 . . . 0.003 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.163 . . . . . 0.094 . 0.135 . LowAF 0.02 . . . . . . . . . . . . . 4.088 . . I.84 -1.91 . 0.200000 Q8WW24 . . . . . 0.108 . . . 7.852e-05 1.828e-05 0 0 0 6.994e-05 2.001e-05 0 0 0 0 0 0 0 0 0 0 . . 0.208 . -0.992 -0.992000 . . 0.200000 . . 9.999999999999999E-185 0.075 0.220 . 0.140 0.079 . 0.340 . 0.075 -0.992 -1.790 . . . rs77824556 rs77824556 1 1538 10 1/0 0,216,255 +rs112908382 2 95541414 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541414 95541414 Chr2(GRCh37):g.95541414G>A 1018 1018 NM_144705.3:c.1018G>A p.Val340Ile p.Val340Ile 5 -74 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.26815 0 Tektin rs112908382 yes no Frequency 1 0.000000 0 0.000054 0.000000 0.000058 0.000000 0.000106 0.000065 0.000063 0.000000 0.000155 0.000106 15 0 2 0 2 2 8 0 1 277010 23964 34412 10148 18858 30782 126604 25782 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 2 0 2 2 8 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.992 3.595 V Val GTA 0.114 I Ile ATA 0.163 340 12 11 Fruitfly 3 3 4 0 0 5.IX 5.II 84 111 29 C0 223.30 28.68 Deleterious 0 3.V 189 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.G1018A:p.V340I TEKT4:uc002stw.1:exon5:c.G1018A:p.V340I . . . 0.13304721 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.665 . @ . . . . . 1 0.691 . . 233.0 . . . . . . . . . . 0.2163 -0.016 0.216 c . . . . . 5.525e-05 . . . 0 2.208e-05 0 0 0 4.76e-05 0 0 0 4.712e-05 0 0 0 9.213e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.038 . . exonic exonic exonic . . 0.277 @ . . . 0.35 0.41 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.855 0.251 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.107 0.004 . . 37 . 0.202 . . 0.044 . . . 0.957 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.223 . . 0 0 0 0 0 0 . 0.588 . . 0.590 . . . . . . 1 0.586 . . . . . 0.428 . 0.552 . LowAF 0.02 . . . . . . . . . . . . . X.48 . ENST00000295201 II.31 II.31 . 0.020000 Q8WW24 . . . . . 0.429 . . II.31 0 4.874e-05 5.956e-05 0 0 0 7.164e-05 0 6.497e-05 0 9.739e-05 0 0 0.0012 0 0 0.0010 . . 0.283 . 1.314 1.314000 . . 0.020000 . . 1.0E-189 0.996 0.391 . 0.162 0.037 . 0.558 . 0.291 1.314 -0.628 . . . rs112908382 rs112908382 1 1538 10 1/0 0,193,255 +rs114824441 2 95541427 G T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541427 95541427 Chr2(GRCh37):g.95541427G>T 1031 1031 NM_144705.3:c.1031G>T p.Arg344Leu p.Arg344Leu 5 -61 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.45857 0 Tektin 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 276960 23956 34398 10150 18864 30782 126600 25748 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM107201|COSM107201 Skin|Lung 0.000812|0.000419 1232|2388 transversion G T G>T 1.000 3.595 R Arg CGG 0.207 L Leu CTG 0.404 344 12 11 Fruitfly -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 241.31 90.63 Deleterious 0 3.V 198 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.G1031T:p.R344L TEKT4:uc002stw.1:exon5:c.G1031T:p.R344L . . . 0.15352698 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.881 . @ . . . . . 1 0.866 . . 241.0 . . . . . . . . . . 0.5438 0.337 0.544 c . . . . . 7.893e-06 . . . 0 1.104e-05 0 0 0 0 0 6.061e-05 0 9.425e-06 0 0 0 0 0 6.096e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.266 . . exonic exonic exonic . . 0.277 @ . . . 0.37 0.35 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.855 0.251 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.649 0.052 . . 37 . 0.569 . . 0.667 . . . 0.966 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.927 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.428 . 0.833 . HET 0 rs114824441 . . CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000060629.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000060629.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000060629.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000060629.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . X.48 . ENST00000295201 II.31 II.31 . 0.000000 Q8WW24 . . . . . 0.482 . . II.31 0 4.062e-06 0 0 0 0 0 0 3.249e-05 0 0 0 0 0 0 0 0 . . 0.283 . 1.314 1.314000 . . 0.000000 . . 1.0E-198 1.000 0.715 . 0.264 0.061 . 0.577 . 0.284 1.314 0.562 . . . rs114824441 . 1 1538 10 1/0 0,193,255 +rs200040675 2 95541428 G T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95541428 95541428 Chr2(GRCh37):g.95541428G>T 1032 1032 NM_144705.3:c.1032G>T p.Arg344= p.Arg344Arg 5 -60 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.38523 0 Tektin rs200040675 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30742 8648 826 302 1616 0 14924 3450 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transversion G T G>T 1.000 0.367 R Arg CGG 0.207 R Arg CGT 0.082 344 202 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.G1032T:p.R344R TEKT4:uc002stw.1:exon5:c.G1032T:p.R344R . . . 0.16455697 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 237.0 . . . . . . . . . . I.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.27 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs200040675 rs200040675 1 1538 10 1/0 0,195,255 +rs201206924 2 95541442 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541442 95541442 Chr2(GRCh37):g.95541442C>T 1046 1046 NM_144705.3:c.1046C>T p.Ser349Leu p.Ser349Leu 5 -46 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 7.86985 0 Tektin rs201206924 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000029 1 0 1 0 0 0 0 0 0 276882 23950 34402 10150 18856 30782 126528 25754 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3364854 Kidney 0.000578 1729 transition C T C>T 0.992 3.595 S Ser TCG 0.056 L Leu TTG 0.127 349 12 9 Fruitfly -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 275.49 8.IX Deleterious 0.02 3.V 198 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1046T:p.S349L TEKT4:uc002stw.1:exon5:c.C1046T:p.S349L . . . 0.15481171 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.859 . @ . . . . . 1 0.945 . . 239.0 . . . . . . . . . . -0.0533 -0.206 -0.053 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.277 @ . . . 0.33 0.41 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.855 0.251 . . . . . . . Uncertain_significance . 0 . 0.337 . . . . T 0.377 0.016 . . 37 . 0.072 . . 0.438 . . . 0.726 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.641 . . 0 0 0 0 0 0 . 0.622 . . 0.548 . . . . . . 1 0.721 . . . . . 0.428 . 0.634 . HET 0.01 . 0.011 0.007 . . . . ID\x3dCOSM3364854\x3bOCCURENCE\x3d1(kidney) . . . . . X.48 . ENST00000295201 II.31 II.31 . 0.280000 Q8WW24 . . . . . 0.198 . . II.31 0 4.063e-06 2.978e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.283 . 1.314 1.314000 . . 0.280000 . . 1.0E-198 0.109 0.228 . 0.176 0.011 . 0.564 . 0.080 1.314 0.542 0.011 . . rs201206924 rs201206924 1 1538 10 1/0 0,194,255 +rs202121290 2 95541447 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541447 95541447 Chr2(GRCh37):g.95541447C>T 1051 1051 NM_144705.3:c.1051C>T p.Arg351Trp p.Arg351Trp 5 -41 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.41866 0 Tektin rs202121290 yes no Frequency 1 0.000000 0 0.000011 0.000042 0.000000 0.000000 0.000053 0.000032 0.000000 0.000000 0.000000 0.000053 3 1 0 0 1 1 0 0 0 276844 23946 34400 10150 18852 30782 126508 25748 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.932 R Arg CGG 0.207 W Trp TGG 1.000 351 12 11 Fruitfly -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 241.31 94.79 Deleterious 0 3.V 203 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1051T:p.R351W TEKT4:uc002stw.1:exon5:c.C1051T:p.R351W . . . 0.16595745 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.891 . @ . . . . . 1 0.948 . . 235.0 . . . . . . . . . . 0.0817 -0.206 0.082 c . . . . . 7.893e-06 . . . 0 1.106e-05 0 0 0 0 0 6.072e-05 0 9.439e-06 0 0 0 0 0 6.106e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.267 . . exonic exonic exonic . . 0.130 @ . . . 0.33 0.38 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.001 0.075 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.685 0.062 . . 37 . 0.536 . . 0.567 . . . 0.937 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.956 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 1 0.912 . . . . . 0.248 . 0.853 . HET 0 . . . . . . . . . . . . . 7.1842 . ENST00000295201 II.31 -0.072 . 0.000000 Q8WW24 . . . . . 0.077 . . . 0 8.126e-06 0 0 5.798e-05 0 0 0 3.249e-05 0.0001 3.255e-05 0 0 0 0 0 0 . . 0.283 . 0.281 0.281000 . . 0.000000 . . 1.0E-203 0.140 0.233 . 0.122 0.069 . 0.214 . 0.280 0.281 -0.609 . . . rs202121290 rs202121290 1 1538 10 1/0 0,195,255 +rs201284314 2 95541467 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95541467 95541467 Chr2(GRCh37):g.95541467C>T 1071 1071 NM_144705.3:c.1071C>T p.Cys357= p.Cys357Cys 5 -21 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.24757 0 Cryptic Acceptor Strongly Activated 95541478 1.0891 0.003958 66.0714 1.97293 0.009042 70.1733 Tektin rs201284314 yes no Frequency 1 0.000000 0 COSM5765678 Large intestine 0.000443 2257 transition C T C>T 1.000 2.142 C Cys TGC 0.552 C Cys TGT 0.448 357 194 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1071T:p.C357C TEKT4:uc002stw.1:exon5:c.C1071T:p.C357C . . . 0.14418605 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 215.0 . . . . . . . . . . I.49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.32 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs201284314 rs201284314 1 1538 10 1/0 0,197,255 +rs202183695 2 95541468 C G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541468 95541468 Chr2(GRCh37):g.95541468C>G 1072 1072 NM_144705.3:c.1072C>G p.Arg358Gly p.Arg358Gly 5 -20 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.28169 0 Cryptic Donor Strongly Activated 95541468 0.000463 52.6429 3.16015 0.017519 65.954 Tektin rs202183695 yes no Frequency 1 0.000000 0 0.000004 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000065 1 1 0 0 0 0 0 0 0 245716 15292 33562 9834 17240 30768 111276 22276 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes COSM5765620 Large intestine 0.000886 2257 transversion C G C>G 1.000 0.851 R Arg CGT 0.082 G Gly GGT 0.162 358 12 11 Fruitfly -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 241.31 24.28 Deleterious 0 3.V 184 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1072G:p.R358G TEKT4:uc002stw.1:exon5:c.C1072G:p.R358G . . . 0.1448598 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.702 . @ . . . . . 1 0.657 . . 214.0 . . . . . . . . . . 0.2915 0.058 0.292 c . . . . . 7.894e-06 . . . 9.73e-05 1.117e-05 0 0 0 0 0 0 0.0001 9.521e-06 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.036 . . exonic exonic exonic . . 0.213 @ . . . 0.3 0.34 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.001 0.077 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.244 0.009 . . 37 . 0.207 . . 0.015 . . . 0.965 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.921 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.784 . . . . . 0.202 . 0.883 . LowAF 0 . . . . . . . . . . . . . VI.13 2.68E-4 ENST00000295201 II.45 1.IV . 0.010000 Q8WW24 . . . . . 0.249 . . . 6.539e-05 4.07e-06 0 0 0 0 0 0 0 . . . . . . . . . . 0.283 . 1.408 1.408000 . . 0.010000 . . 9.999999999999999E-185 0.995 0.385 . 0.195 0.583 . 0.191 . 0.280 1.408 -0.609 . . . rs202183695 rs202183695 1 1538 10 1/0 0,198,255 +rs111234447 2 95541470 T C - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95541470 95541470 Chr2(GRCh37):g.95541470T>C 1074 1074 NM_144705.3:c.1074T>C p.Arg358= p.Arg358Arg 5 -18 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 8.86954 0 Tektin rs111234447 yes no Frequency 1 0.000000 0 COSM5766312 Large intestine 0.000443 2257 transition T C T>C 0.717 -3.023 R Arg CGT 0.082 R Arg CGC 0.190 358 192 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.T1074C:p.R358R TEKT4:uc002stw.1:exon5:c.T1074C:p.R358R . . . 0.13875598 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . 0.1482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.34 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs111234447 rs111234447 1 1538 10 1/0 0,198,255 +rs201902069 2 95541471 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95541471 95541471 Chr2(GRCh37):g.95541471G>A 1075 1075 NM_144705.3:c.1075G>A p.Asp359Asn p.Asp359Asn 5 -17 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 7.87372 0 Tektin rs201902069 yes no Frequency/1000G 2 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245686 15288 33560 9830 17244 30770 111264 22262 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes COSM5765644 Large intestine 0.000443 2257 transition G A G>A 0.866 3.676 D Asp GAC 0.539 N Asn AAC 0.536 359 12 11 Fruitfly 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 213.16 22.75 Deleterious 0 3.V 195 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.G1075A:p.D359N TEKT4:uc002stw.1:exon5:c.G1075A:p.D359N . . . 0.14553991 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.657 . @ . . . . . 1 0.854 . . 213.0 . . . . . . . . . . 0.3032 0.040 0.303 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.266 . . exonic exonic exonic . . 0.288 @ . . . 0.33 0.27 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.902 0.261 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.462 0.023 . . 37 . 0.543 . . 0.635 . . . 0.966 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.802 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 1 0.614 . . . . . 0.446 . 0.472 . LowAF 0 rs201902069 . . . . . . . . . . . . X.74 . ENST00000295201 II.45 II.45 . 0.000000 Q8WW24 . . . . . 0.471 . . II.45 0 4.07e-06 0 0 0 0 8.988e-06 0 0 . . . . . . . . . . 0.283 . 1.408 1.408000 . . 0.000000 . . 9.999999999999999E-196 1.000 0.715 . 0.108 0.689 . 0.641 . 0.284 1.408 0.562 . . . rs201902069 rs201902069 1 1538 10 1/0 0,198,255 +rs112108710 2 95541473 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95541473 95541473 Chr2(GRCh37):g.95541473C>T 1077 1077 NM_144705.3:c.1077C>T p.Asp359= p.Asp359Asp 5 -15 5' 67.4408 4.87078 0.273461 8.45897 67.4408 4.87078 0.273461 7.83425 0 Cryptic Acceptor Strongly Activated 95541478 1.0891 0.003958 66.0714 1.97435 0.008649 69.617 Tektin rs112108710 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 1 0 0 0 0 0 0 0 1 276374 23952 34386 10130 18862 30766 126118 25716 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.055 -0.440 D Asp GAC 0.539 D Asp GAT 0.461 359 193 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon5:c.C1077T:p.D359D TEKT4:uc002stw.1:exon5:c.C1077T:p.D359D . . . 0.1407767 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 206.0 . . . . . . . . . . 0.3457 . . . . . . . . 7.894e-06 . . . 0 1.12e-05 0 0 0 2.412e-05 0 0 0 9.551e-06 0 0 0 1.863e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.29 0.32 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.072e-06 0 0 0 0 0 0.0002 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs112108710 rs112108710 1 1538 10 1/0 0,199,255 +rs74658435 2 95542332 C A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542332 95542332 Chr2(GRCh37):g.95542332C>A 1126 1126 NM_144705.3:c.1126C>A p.Leu376Ile p.Leu376Ile 6 35 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.92851 0 Tektin rs74658435 yes no Frequency 1 C 0.000000 0 COSM5021307 Bone 0.001757 569 transversion C A C>A 0.543 -0.037 L Leu CTC 0.197 I Ile ATC 0.481 376 12 7 Frog 2 2 2 0 0 4.IX 5.II 111 111 5 C0 235.27 0.00 Tolerated 0.2 3.V 187 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.C1126A:p.L376I TEKT4:uc002stw.1:exon6:c.C1126A:p.L376I . . . 0.12820514 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.077 . @ . . . . . 1 0.079 . . 312.0 . . . . . . . . . . -1.1411 -1.136 -1.141 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.021 . . exonic exonic exonic . . 0.192 @ . . . 0.25 0.3 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . 0.334 . . . . T 0.049 0.002 . . 37 . 0.010 . . 0.497 . . . 0.192 0.234 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.282 . . 0.285 . . . . . . 1 0.010 . . . . . 0.263 . 0.480 . LowAF 0.94 . . . . . . . . . . . . . VII.52 . ENST00000295201 II.43 1.V . 1.000000 Q8WW24 . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.208 . 1.049 1.049000 . . 1.000000 . . 1.0E-187 0.001 0.137 . 0.165 0.975 . 0.079 . 0.270 1.049 0.542 . . . rs74658435 rs74658435 1 1538 10 1/0 0,179,255 +rs199984547 2 95542340 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95542340 95542340 Chr2(GRCh37):g.95542340A>G 1134 1134 NM_144705.3:c.1134A>G p.Ala378= p.Ala378Ala 6 43 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 6.11166 0 Cryptic Acceptor Strongly Activated 95542339 3.96118 0.012637 79.9154 4.85699 0.024382 79.9154 Tektin rs199984547 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.685 -1.167 A Ala GCA 0.226 A Ala GCG 0.107 378 204 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.A1134G:p.A378A TEKT4:uc002stw.1:exon6:c.A1134G:p.A378A . . . 0.16828479 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 309.0 . . . . . . . . . . 0.6096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.31 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs199984547 rs199984547 1 1538 10 1/0 0,183,255 +rs114977368 2 95542346 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95542346 95542346 Chr2(GRCh37):g.95542346A>G 1140 1140 NM_144705.3:c.1140A>G p.Arg380= p.Arg380Arg 6 49 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.32397 0 Tektin rs114977368 yes no Frequency 1 A 0.000000 0 COSM4316388|COSM4316388 Large intestine|Bone 0.000443|0.001757 2257|569 transition A G A>G 0.984 0.205 R Arg CGA 0.110 R Arg CGG 0.207 380 207 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.A1140G:p.R380R TEKT4:uc002stw.1:exon6:c.A1140G:p.R380R . . . 0.19536424 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 302.0 . . . . . . . . . . 1.0386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.3 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs114977368 rs114977368 1 1538 10 1/0 0,187,251 +rs112631866 2 95542363 C G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542363 95542363 Chr2(GRCh37):g.95542363C>G 1157 1157 NM_144705.3:c.1157C>G p.Ala386Gly p.Ala386Gly 6 66 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.06074 0 Tektin rs112631866 yes no Frequency 1 C 0.000000 0 COSM292336|COSM292336|COSM292336 Large intestine|Haematopoietic and lymphoid tissue|Bone 0.000886|0.000278|0.001757 2257|3598|569 transversion C G C>G 1.000 3.676 A Ala GCG 0.107 G Gly GGG 0.250 386 12 10 Fruitfly 0 0 0 0 0.74 8.I 9 31 3 60 C0 209.31 0.00 Deleterious 0.04 3.V 236 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.C1157G:p.A386G TEKT4:uc002stw.1:exon6:c.C1157G:p.A386G . . . 0.26108375 . . @ 106 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.789 . @ . . . . . 1 0.657 . . 406.0 . . . . . . . . . . 0.2910 0.072 0.291 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.287 @ . . . 0.26 0.35 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.879 0.255 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . T 0.177 0.007 . . 37 . 0.195 . . 0.031 . . . 0.947 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.563 . . 0 0 0 0 0 0 . 0.596 . . 0.637 . . . . . . 1 0.555 . . . . . 0.441 . 0.603 . HET 0.02 . . . . . . . . . . . . . X.84 . ENST00000295201 II.43 II.43 . 0.000000 Q8WW24 . . . . . 0.276 . . II.43 . . . . . . . . . . . . . . . . . . . 0.208 . 1.049 1.049000 . . 0.000000 . . 1.0E-236 0.053 0.213 . 0.288 0.923 . 0.526 . 0.270 1.049 0.542 . . . rs112631866 rs112631866 1 1538 10 1/0 0,179,231 +rs201397911 2 95542376 G T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution synonymous exon GRCh37 95542376 95542376 Chr2(GRCh37):g.95542376G>T 1170 1170 NM_144705.3:c.1170G>T p.Leu390= p.Leu390Leu 6 79 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.18567 0 Tektin rs201397911 no no 0 G 0.000000 0 COSM4133981|COSM4133981 Thyroid|Large intestine 0.001339|0.001772 747|2257 transversion G T G>T 0.992 1.335 L Leu CTG 0.404 L Leu CTT 0.129 390 236 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.G1170T:p.L390L TEKT4:uc002stw.1:exon6:c.G1170T:p.L390L . . . 0.25877193 . . @ 118 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 456.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.29 182 ENSG00000163060 TEKT4 TEKT4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs201397911 rs201397911 1 1538 10 1/0 0,174,230 +rs72817671 2 95542377 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542377 95542377 Chr2(GRCh37):g.95542377C>T 1171 1171 NM_144705.3:c.1171C>T p.Arg391Cys p.Arg391Cys 6 80 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.64429 0 Tektin rs72817671 yes no Frequency/1000G 2 C 0.000000 0 0.000323 0.000901 0.000090 0.000308 0.000121 0.000000 0.000414 0.000344 0.000743 0.000901 77 13 3 3 2 0 45 7 4 238428 14422 33174 9726 16560 30198 108642 20320 5386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 13 3 3 2 0 45 7 4 0 0 0 0 0 0 0 0 0 RF 72 Exomes COSM4133982|COSM4133982 Thyroid|Large intestine 0.004016|0.000886 747|2257 transition C T C>T 0.961 -0.037 R Arg CGC 0.190 C Cys TGC 0.552 391 12 8 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 254.51 0.00 Tolerated 0.08 3.V 244 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.C1171T:p.R391C TEKT4:uc002stw.1:exon6:c.C1171T:p.R391C . . . 0.28509718 . . @ 132 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.498 . @ . . . . . 1 0.332 . . 463.0 . . . . . . . . . . -0.5212 -0.513 -0.521 c . . . . . 2.794e-03 . . . 0.0045 0.0023 0.0012 0.0045 0 0.0024 0.0017 0.0012 0.0046 0.0018 0.0012 0.0052 0 0.0014 0.0032 0.0011 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.192 @ . . . 0.3 0.33 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.000 0.069 . . . . . . . Likely_benign . 0 . 0.197 . . . . T 0.060 0.003 . . 37 . 0.033 . . 0.398 . . . 0.734 0.458 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.754 . . 0 0 0 0 0 0 . 0.207 . . 0.170 . . . . . . 1 0.339 . . . . . 0.191 . 0.663 . HET 0.11 . . . . . . . . . . . . . 6.0949 0.022739 ENST00000295201 II.43 1.V . 0.050000 Q8WW24 . . . . . 0.090 . . . 0.0009 0.0003 9.043e-05 0.0003 0.0001 0.0003 0.0004 0.0007 0 . . . . . . . . . . 0.208 . 1.049 1.049000 . . 0.050000 . . 1.0000000000000001E-244 0.046 0.210 . 0.308 0.932 . 0.161 . 0.270 1.049 -0.609 . . rs72817671 rs72817671 rs72817671 1 1538 10 1/0 0,176,227 +rs142133592 2 95542416 A G - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542416 95542416 Chr2(GRCh37):g.95542416A>G 1210 1210 NM_144705.3:c.1210A>G p.Ile404Val p.Ile404Val 6 119 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.76995 0 Tektin rs142133592 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245416 15284 33574 9842 17246 30758 111602 21640 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 72 Exomes COSM3933716|COSM3933716|COSM3933716|COSM3933716|COSM3933716 Urinary tract|Thyroid|Skin|Oesophagus|Large intestine 0.002976|0.002677|0.000812|0.000711|0.000443 672|747|1232|1406|2257 transition A G A>G 0.992 3.030 I Ile ATT 0.356 V Val GTT 0.178 404 12 10 Fruitfly 3 3 4 0 0 5.II 5.IX 111 84 29 C0 234.77 XI.33 Tolerated 0.06 3.V 253 PASS . . . . . . . . . . . ENSG00000163060:ENST00000295201:exon6:c.A1210G:p.I404V TEKT4:uc002stw.1:exon6:c.A1210G:p.I404V . . . 0.31439394 . . @ 166 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.351 . @ . . . . . 1 0.847 . . 528.0 . . . . . . . . . . 0.1781 0.012 0.178 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.038 . . exonic exonic exonic . . 0.287 @ . . . 0.29 0.35 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.274 0.189 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.090 0.004 . . 37 . 0.150 . . 0.009 . . . 0.718 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.249 . . 0 0 0 0 0 0 . 0.544 . . 0.550 . . . . . . 1 0.531 . . . . . 0.313 . 0.609 . HET 0.03 . . . . . . . . . . . . . 8.354 . ENST00000295201 II.43 II.43 . 0.050000 Q8WW24 . . . . . 0.379 . . II.43 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.450 . 0.866 0.866000 . . 0.050000 . . 1.0E-253 0.967 0.338 . 0.269 0.851 . 0.446 . 0.274 0.866 0.649 . . . rs142133592 rs142133592 1 1538 10 1/0 0,173,223 +rs75603622 2 95542419 G A - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542419 95542419 Chr2(GRCh37):g.95542419G>A 1213 1213 NM_144705.3:c.1213G>A p.Ala405Thr p.Ala405Thr 6 122 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.76995 0 Tektin rs75603622 yes no Frequency/1000G 2 G 0.000000 0 0.011582 0.004500 0.024500 0.017900 0.005000 0.007200 0.000110 0.000084 0.000000 0.000000 0.000164 0.000066 0.000032 0.000804 0.000000 0.000804 30 2 0 0 3 2 4 19 0 271904 23794 34108 10102 18296 30414 125152 23638 6400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 2 0 0 3 2 4 19 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4316390|COSM4316390|COSM4316390|COSM4316390 Thyroid|Skin|Liver|Large intestine 0.002677|0.001623|0.000422|0.001772 747|1232|2371|2257 transition G A G>A 0.480 -1.247 A Ala GCC 0.403 T Thr ACC 0.361 405 12 9 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 244.02 0.00 Tolerated 0.33 3.V 255 PASS . . . . . 0.0045 0.012 0.0072 0.018 0.005 0.025 ENSG00000163060:ENST00000295201:exon6:c.G1213A:p.A405T TEKT4:uc002stw.1:exon6:c.G1213A:p.A405T . . . 0.32592592 . . @ 176 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.153 . @ . . . . . 1 0.206 . . 540.0 . . . . . . . . . . -1.1757 -1.318 -1.176 c . . . . . 4.326e-03 . . . 0.0032 0.0042 0.0047 0.0166 0.0014 0.0028 0.0060 0.0045 0.0026 0.0030 0.0045 0.0143 0.0008 0.0011 0.0030 0.0044 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.028 . . exonic exonic exonic . . 0.065 0.0116 . . . 0.26 0.26 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.002 0.089 . . . . . . . Likely_benign . 0 . 0.241 . . . . . . . . . 37 . 0.050 . . 0.427 . . . 0.928 0.228 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.102 . . 0.154 . . . . . . 1 0.303 . . . . . 0.234 . 0.459 . HET 0.15 . . . . . . . . . . . . . 6.926 . ENST00000295201 II.43 -2.21 . 0.490000 Q8WW24 . . . . . 0.036 . . . 0.0001 0.0001 0 0 0.0002 0.0009 3.629e-05 0 6.576e-05 0 0 0 0 0 0 0 0 . . 0.450 . -0.321 -0.321000 . . 0.490000 . . 1.0E-255 0.001 0.137 . 0.252 0.829 . 0.136 . 0.040 -0.321 0.562 . rs3209453 rs3209453 rs75603622 rs75603622 1 1538 10 1/0 0,174,221 +rs1052809 2 95542476 C T - TEKT4 31012 Tektin 4 NM_144705.3 1 1515 1308 NP_653306.1 Q8WW24 substitution missense exon GRCh37 95542476 95542476 Chr2(GRCh37):g.95542476C>T 1270 1270 NM_144705.3:c.1270C>T p.Arg424Cys p.Arg424Cys 6 179 3' 73.5192 5.62854 0.057614 5.76995 73.5192 5.62854 0.057614 5.76995 0 Tektin rs1052809 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000471 0.000043 0.000059 0.000000 0.000164 0.000165 0.000163 0.004608 0.000000 0.004608 125 1 2 0 3 5 20 94 0 265488 23428 34034 10016 18274 30286 122770 20398 6282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 1 2 0 3 5 20 94 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM1632161|COSM1632161|COSM1632161|COSM1632161|COSM1632161|COSM1632161|COSM1632161|COSM1632161 Thyroid|Skin|Lung|Liver|Large intestine|Haematopoietic and lymphoid tissue|Cervix|Central nervous system 0.001339|0.003247|0.000838|0.000422|0.001329|0.000556|0.003040|0.001247 747|1232|2388|2371|2257|3598|329|2405 transition C T C>T 0.685 2.062 R Arg CGC 0.190 C Cys TGC 0.552 424 12 8 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 257.44 XI.33 Deleterious 0.04 3.V 255 PASS . . . . . . 0.0002 . . . 0.001 ENSG00000163060:ENST00000295201:exon6:c.C1270T:p.R424C TEKT4:uc002stw.1:exon6:c.C1270T:p.R424C . . . 0.32079646 . . @ 145 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.538 . @ . . . . . 1 0.408 . . 452.0 . . . . . . . . . . -0.3840 -0.456 -0.384 c . . . . . 3.734e-03 . . . 0.0055 0.0034 0.0008 0.0040 0.0017 0.0048 0.0031 0.0009 0.0060 0.0022 0.0006 0.0021 0.0009 0.0026 0.0015 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.287 0.0002 . . . 0.31 0.38 182 ENSG00000163060 TEKT4 TEKT4 . . . 0.011 0.121 . . . . . . . Uncertain_significance . 0 . 0.374 . . . . T 0.101 0.004 . . 37 . 0.039 . . 0.499 . . . 0.461 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.751 . . 0 0 0 0 0 0 . 0.367 . . 0.324 . . . . . . 1 0.301 . . . . . 0.441 . 0.600 . HET 0 . . 0.007 . . . . . . . . . . X.84 5.35E-4 ENST00000295201 II.43 II.43 . 0.130000 Q8WW24 . . . . . 0.147 . . II.43 6.794e-05 0.0005 6.024e-05 0 0.0002 0.0056 0.0002 0 0.0002 0 0 0 0 0 0 0 0 . . 0.450 . 1.049 1.049000 . . 0.130000 . . 1.0E-255 0.091 0.224 . 0.252 0.989 . 0.355 . 0.270 1.049 0.542 . rs1052809 rs1052809 rs1052809 rs1052809 1 1538 10 1/0 0,182,239 +rs148482144 2 95780952 T C - MRPS5 14498 Mitochondrial ribosomal protein S5 NM_031902.4 -1 3495 1293 NP_114108.1 P82675 substitution splice site GRCh37 95780952 95780952 Chr2(GRCh37):g.95780952T>C 140-4 140-4 NM_031902.4:c.140-4A>G p.? p.? 3 2 611972 -4 3' 86.2708 10.0654 0.868749 5.85664 86.2708 X.83 0.761417 6.51083 -0.0238663 rs148482144 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001587 0.000127 0.000721 0.009878 0.000000 0.002498 0.001841 0.000120 0.001733 0.009878 396 3 19 81 0 62 218 3 10 249586 23628 26360 8200 17410 24822 118410 24986 5770 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 394 3 19 81 0 62 216 3 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4406 12989 17 0 17 0.00197674 0 0.00130709 0.00197674 0 0.00130709 142 transition A G A>G 0.000 -2.458 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.41509435 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . INTRON(MODIFIER||||MRPS5|mRNA|CODING|NM_031902|) . 0.0013 0.002 . 0.0013 0.002 . -0.1894 . . . . . . . . 1.634e-03 . . . 0.0002 0.0020 0.0005 0 0 0.0030 0.0060 0.0028 0.0002 0.0016 0.0004 0 0.0002 0.0022 0.0062 0.0026 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.57 0.27 182 ENSG00000144029 MRPS5 MRPS5 . . . . . . 58 0.000892637 64976 56 0.000933551 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148482144 . . . . . . . . . . . . . . . . . . . . 0 0.124 . 0.001307 . . . . . 6.712e-05 0.0017 0.0007 0.0096 0 0.0001 0.0019 0.0019 0.0025 0.0002 0.0010 0.0012 0.0166 0 0 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs148482144 rs148482144 1 1538 10 1/0 0,253,255 +rs62155081 2 96143068 G A - TRIM43B 37146 Tripartite motif-containing 43B NM_001164464.1 -1 1668 1341 NP_001157936.1 A6NCK2 substitution synonymous exon GRCh37 96143068 96143068 Chr2(GRCh37):g.96143068G>A 1185 1185 NM_001164464.1:c.1185C>T p.Tyr395= p.Tyr395Tyr 7 326 3' 92.4587 9.35911 0.970892 6.30045 92.4587 9.35911 0.970892 6.30045 0 Cryptic Acceptor Weakly Activated 96143063 5.72562 0.722736 73.7081 5.44273 0.847407 77.2537 rs62155081 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.000 -0.763 Y Tyr TAC 0.562 Y Tyr TAT 0.438 395 255 PASS . . . . . . . . . . . . TRIM43B:uc021vle.1:exon7:c.C1185T:p.Y395Y TRIM43B:NM_001164464:exon7:c.C1185T:p.Y395Y . . 0.33333334 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 60.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y395|TRIM43B|mRNA|CODING|NM_001164464|NM_001164464.ex.7) . . . . . . . -0.6572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.67 0.33 182 ENSG00000144010 TRIM43B TRIM43B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62155081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62155081 rs62155081 rs62155081 rs62155081 1 1538 10 1/0 0,255,255 +. 2 96145119 C T - TRIM43B 37146 Tripartite motif-containing 43B NM_001164464.1 -1 1668 1341 NP_001157936.1 A6NCK2 substitution intron GRCh37 96145119 96145119 Chr2(GRCh37):g.96145119C>T 761+15 761+15 NM_001164464.1:c.761+15G>A p.? p.? 5 5 15 5' 89.5197 9.78772 0.991198 1.50356 89.5197 9.78772 0.991198 1.56367 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 17394 Exomes transition G A G>A 0.000 -1.328 240 PASS . . . . . . . . . . . . . . . . 0.2777778 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||TRIM43B|mRNA|CODING|NM_001164464|) . . . . . . . -0.8055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000144010 TRIM43B TRIM43B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . 0 . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62155084 2 96146340 G A - TRIM43B 37146 Tripartite motif-containing 43B NM_001164464.1 -1 1668 1341 NP_001157936.1 A6NCK2 substitution intron GRCh37 96146340 96146340 Chr2(GRCh37):g.96146340G>A 508-57 508-57 NM_001164464.1:c.508-57C>T p.? p.? 4 3 -57 3' 89.6741 7.15101 0.938016 6.07123 89.6741 7.15101 0.938016 6.00367 0 rs62155084 no no 0 G 0.000000 0 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30862 8696 832 302 1614 0 14964 3482 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition C T C>T 0.000 0.044 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||TRIM43B|mRNA|CODING|NM_001164464|) . . . . . . . -0.4258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.42 0.33 182 ENSG00000144010 TRIM43B TRIM43B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62155084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.24e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs62155084 rs62155084 rs62155084 rs62155084 1 1538 10 1/0 0,255,255 +rs200056770 2 96263114 G A - TRIM43 19015 Tripartite motif containing 43 NM_138800.2 1 1675 1341 NP_620155.1 Q96BQ3 substitution intron GRCh37 96263114 96263114 Chr2(GRCh37):g.96263114G>A 761+15 761+15 NM_138800.2:c.761+15G>A p.? p.? 5 5 15 5' 89.5197 9.78772 0.991198 1.50356 89.5197 9.78772 0.991198 1.56367 0 rs200056770 yes no Frequency/1000G 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.247 249 PASS 0.16 0.21 0.27 0.22 0.21 . . . . . . . . . . . 0.30769232 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||TRIM43|mRNA|CODING|NM_138800|) . . . . . . . -0.6460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.34 182 ENSG00000144015 TRIM43 TRIM43 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200056770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.27 . . rs200056770 rs200056770 1 1538 10 1/0 0,255,255 +rs62155738 (chr2:96459019 G/A) 2 96459019 G A Not on a known gene +rs200783792 2 96516928 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96516928 96516928 Chr2(GRCh37):g.96516928C>T 6427 6427 NM_001310154.1:c.6427G>A p.Glu2143Lys p.Glu2143Lys 88 -15 5' 89.5197 9.78772 0.981514 1.65989 89.5197 9.78772 0.981514 0.950523 0 rs200783792 yes no Frequency 1 C 0.000000 0 0.000006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 1 0 0 0 0 0 1 0 0 159384 10326 24420 8378 11220 22644 61622 16792 3982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 79 Exomes transition G A G>A 0.000 -0.924 E Glu GAG 0.583 K Lys AAG 0.575 2143 12 2 Chimp 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 1 3.V 197 PASS . . . . . . . . . . . ENSG00000174501:ENST00000456556:exon67:c.G5329A:p.E1777K . ANKRD36C:NM_001310154:exon88:c.G6427A:p.E2143K . . 0.15254237 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.177 . @ . . . . . 1 0.044 . . 59.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E2143K|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.88) . . . . . . . -1.3725 -1.516 -1.372 c . . . . . 8.882e-06 . . . 0 3.879e-05 0 0 0 0 0 0.0001 0 4.526e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV . nonsynonymous_SNV 0.402 . . exonic intergenic exonic . . 0.062 @ . . . 0.34 0.21 182 ENSG00000174501 . ANKRD36C . dist\x3d24199\x3bdist\x3d4828 . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.237 . . 0.227 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.308 . . . . . 0.104 . 0.094 . HET 0 rs200783792 . . . . . . . . . . . . IV.37 . ENST00000456556 1.II -2.4 . 0.040000 . . . . . . 0.052 . . . 0 6.274e-06 0 0 0 0 1.623e-05 0 0 . . . . . . . . . . 0.495 . -0.975 -0.975000 . . 0.040000 . . 1.0E-197 0.056 0.214 . 0.016 0.002 . 0.069 . 0.003 -0.975 -1.297 . rs2309084 rs2309084 rs2309084 rs200783792 1 1538 10 1/0 0,253,255 +rs201919453 2 96516929 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96516929 96516929 Chr2(GRCh37):g.96516929A>G 6426 6426 NM_001310154.1:c.6426T>C p.Phe2142= p.Phe2142Phe 88 15 3' 88.857 8.44615 0.894324 2.70162 88.857 8.44615 0.872023 3.15231 -0.00831205 rs201919453 yes no Frequency 1 A 0.000000 0 0.000006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 1 0 0 0 0 0 1 0 0 159302 10336 24406 8374 11218 22596 61602 16784 3986 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 79 Exomes transition T C T>C 0.000 -1.247 F Phe TTT 0.454 F Phe TTC 0.546 2142 201 PASS . . . . . . . . . . . ENSG00000174501:ENST00000456556:exon67:c.T5328C:p.F1776F . ANKRD36C:NM_001310154:exon88:c.T6426C:p.F2142F . . 0.16363636 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 55.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F2142|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.88) . . . . . . . -0.4336 . . . . . . . . 8.882e-06 . . . 0 3.877e-05 0 0 0 0 0 0.0001 0 4.523e-05 0 0 0 0 0 0.0001 synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . 0.36 0.18 182 ENSG00000174501 . ANKRD36C . dist\x3d24200\x3bdist\x3d4827 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201919453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.277e-06 0 0 0 0 1.623e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . rs2871115 rs2871115 rs2871115 rs201919453 1 1538 10 1/0 0,255,255 +rs200495971 2 96516971 T A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96516971 96516971 Chr2(GRCh37):g.96516971T>A 6412-28 6412-28 NM_001310154.1:c.6412-28A>T p.? p.? 88 87 -28 3' 88.857 8.44615 0.894324 2.70162 88.857 8.44615 0.894324 2.98125 0 rs200495971 no no 0 T 0.000000 0 transversion A T A>T 0.256 0.044 210 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.0314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.5 0.15 182 ENSG00000174501 . ANKRD36C . dist\x3d24242\x3bdist\x3d4785 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200495971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs200495971 rs200495971 1 1538 10 1/0 0,255,255 +rs62156864 2 96517012 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96517012 96517012 Chr2(GRCh37):g.96517012T>C 6412-69 6412-69 NM_001310154.1:c.6412-69A>G p.? p.? 88 87 -69 3' 88.857 8.44615 0.894324 2.70162 88.857 8.44615 0.894324 2.89599 0 96517012 -83.139 rs62156864 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30524 8616 834 300 1612 0 14764 3428 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition A G A>G 0.063 0.286 243 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.2741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.46 0.14 182 ENSG00000174501 . ANKRD36C . dist\x3d24283\x3bdist\x3d4744 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62156864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . rs62156864 rs62156864 rs62156864 rs201997194 1 1538 10 1/0 0,255,255 +rs192754800 2 96517025 A T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96517025 96517025 Chr2(GRCh37):g.96517025A>T 6412-82 6412-82 NM_001310154.1:c.6412-82T>A p.? p.? 88 87 -82 3' 88.857 8.44615 0.894324 2.70162 88.857 8.44615 0.894324 2.81568 0 96517026 -5.96791 rs192754800 no no 0 A 0.000000 0 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30870 8732 836 300 1620 0 14916 3492 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T A T>A 0.134 0.286 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.2670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.47 0.12 182 ENSG00000174501 . ANKRD36C . dist\x3d24296\x3bdist\x3d4731 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs192754800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.239e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs192754800 rs192754800 1 1538 10 1/0 0,253,255 +rs79524470 2 96517503 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96517503 96517503 Chr2(GRCh37):g.96517503A>G 6350 6350 NM_001310154.1:c.6350T>C p.Ile2117Thr p.Ile2117Thr 87 33 3' 70.7776 4.79558 0.419292 0 70.7776 4.79558 0.419292 0 0 rs79524470 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.000 -0.279 I Ile ATT 0.356 T Thr ACT 0.243 2117 12 2 Chimp -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 1 3.II 193 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon87:c.T6350C:p.I2117T . . 0.14285715 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.003 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I2117T|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.87) . . . . . . . -1.5291 -1.654 -1.529 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.301 . . exonic intergenic exonic . . 0.078 @ . . . 0.32 0.29 182 ENSG00000174501 . ANKRD36C . dist\x3d24774\x3bdist\x3d4253 . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.106 . . 0.325 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.061 . 0.030 . LowAF 1 rs79524470 . . . . . . . . . . . . 3.1672 . . I.79 -1.67 . 0.960000 . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -0.493 -0.493000 . . 0.960000 . . 1.0E-193 0.023 0.197 . 0.016 0.000 . 0.323 . 0.011 -0.493 -0.988 . . . rs79524470 rs79524470 1 1538 10 1/0 0,255,255 +rs62156872 2 96517885 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96517885 96517885 Chr2(GRCh37):g.96517885G>A 6306 6306 NM_001310154.1:c.6306C>T p.Gly2102= p.Gly2102Gly 86 -12 5' 70.0768 1.17743 0.225419 0 70.0768 1.17743 0.225419 0 0 Cryptic Donor Strongly Activated 96517887 67.7271 6.99701 0.146446 77.6162 rs62156872 yes no Frequency/1000G 2 G 0.000000 0 0.006390 0.004500 0.003100 0.013900 0.003000 0.008600 0.000860 0.000088 0.000237 0.001097 0.000163 0.000033 0.001604 0.000040 0.001444 0.001604 232 2 8 11 3 1 197 1 9 269662 22726 33816 10030 18446 30302 122818 25290 6234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 232 2 8 11 3 1 197 1 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.328 G Gly GGC 0.342 G Gly GGT 0.162 2102 255 PASS . . . . . 0.0045 0.0064 0.0086 0.014 0.003 0.0031 . . ANKRD36C:NM_001310154:exon86:c.C6306T:p.G2102G . . 0.5505618 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G2102|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.86) . . . . . . . -0.3548 . . . . . . . . 3.247e-04 . . . 0.0001 0.0002 0.0002 0 0 0.0003 0 0.0003 0.0001 8.968e-05 0.0002 0 0 3.882e-05 0 0.0003 synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.0064 . . . 0.29 0.29 182 ENSG00000174501 . ANKRD36C . dist\x3d25156\x3bdist\x3d3871 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62156872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.234e-05 3.022e-05 0 0 0 9.08e-06 0 3.3e-05 0.0003 0.0086 0.0097 0.0458 0.0021 0.0003 0.0155 0.0106 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62156872 rs62156872 rs62156872 rs62156872 1 1538 10 1/0 0,255,255 +rs77129683 2 96517893 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96517893 96517893 Chr2(GRCh37):g.96517893T>C 6298 6298 NM_001310154.1:c.6298A>G p.Met2100Val p.Met2100Val 86 -20 5' 70.0768 1.17743 0.225419 0 70.0768 1.17743 0.225419 0 0 rs77129683 yes no Frequency 1 T 0.000000 0 0.000561 0.000000 0.000206 0.000796 0.000053 0.000000 0.001072 0.000000 0.000634 0.001072 153 0 7 8 1 0 133 0 4 272552 23532 33990 10046 18704 30430 124102 25442 6306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 153 0 7 8 1 0 133 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 0.044 M Met ATG 1.000 V Val GTG 0.468 2100 12 4 Rat 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 353.86 0.00 Tolerated 0.09 3.II 214 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon86:c.A6298G:p.M2100V . . 0.1978022 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.029 . @ . . . . . 1 0.019 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M2100V|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.86) . . . . . . . -0.8115 -0.978 -0.812 c . . . . . 1.029e-04 . . . 0 0.0001 0.0002 0 0 0.0001 0 0.0002 0 4.956e-05 0.0002 0 0 0 0 0.0002 nonsynonymous_SNV . nonsynonymous_SNV 0.361 . . exonic intergenic exonic . . 0.173 @ . . . 0.22 0.27 182 ENSG00000174501 . ANKRD36C . dist\x3d25164\x3bdist\x3d3863 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.206 . . 0.215 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.383 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.574 . . . . . 0.050 . 0.156 . HET 0.02 rs77129683 . . . . . . . . . . . . II.28 . . I.97 0.723 . 0.150000 . . . . . . 0.046 . . . 0 8.2e-06 6.022e-05 0 0 0 0 0 0 0 0.0053 0.0064 0.0312 0.0006 0 0.0098 0.0045 . . 0.465 . 0.195 0.195000 . . 0.150000 . . 1.0E-214 0.000 0.063 . 0.043 0.002 . 0.203 . 0.089 0.195 -0.552 . . . rs77129683 rs77129683 1 1538 10 1/0 0,239,255 +rs80041617 2 96517905 A T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96517905 96517905 Chr2(GRCh37):g.96517905A>T 6286 6286 NM_001310154.1:c.6286T>A p.Cys2096Ser p.Cys2096Ser 86 -32 5' 70.0768 1.17743 0.225419 0 70.0768 1.17743 0.225419 0 0 rs80041617 yes no Frequency 1 A 0.000000 0 0.000370 0.000000 0.000147 0.000596 0.000000 0.000000 0.000709 0.000000 0.000317 0.000709 101 0 5 6 0 0 88 0 2 272610 23504 34000 10060 18682 30430 124160 25466 6308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 0 5 6 0 0 88 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.044 C Cys TGT 0.448 S Ser AGT 0.149 2096 12 5 Platypus -1 -1 -2 II.75 I.42 5.V 9.II 55 32 112 C0 353.86 0.00 Tolerated 0.41 3.II 218 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon86:c.T6286A:p.C2096S . . 0.20930232 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.015 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Agt|C2096S|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.86) . . . . . . . -0.8951 -1.060 -0.895 c . . . . . 2.376e-05 . . . 0 1.168e-05 9.222e-05 0 0 0 0 0 0 9.936e-06 9.502e-05 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.346 . . exonic intergenic exonic . . 0.171 @ . . . 0.22 0.26 182 ENSG00000174501 . ANKRD36C . dist\x3d25176\x3bdist\x3d3851 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.220 . . 0.301 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.721 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.327 . . . . . 0.198 . 0.301 . HET 0.12 rs80041617 . . . . . . . . . . . . VI.65 . . I.97 0.686 . 0.730000 . . . . . . 0.044 . . . 0 2.049e-05 6.02e-05 0 0 0 2.713e-05 0 0 0 0.0034 0.0039 0.0233 0 0 0.0063 0.0022 . . 0.465 . 0.187 0.187000 . . 0.730000 . . 1.0E-218 0.000 0.063 . 0.126 0.012 . 0.082 . 0.298 0.187 0.804 . . . rs80041617 rs80041617 1 1538 10 1/0 0,243,255 +rs76809881 2 96517960 T A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96517960 96517960 Chr2(GRCh37):g.96517960T>A 6247-16 6247-16 NM_001310154.1:c.6247-16A>T p.? p.? 86 85 -16 3' 83.1765 8.77217 0.917489 3.80648 83.1765 9.28851 0.966559 IV.82 0.0374482 Cryptic Acceptor Weakly Activated 96517944 8.77217 0.917489 83.1765 9.28851 0.966559 83.1765 96517960 -72.1123 rs76809881 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 262646 22834 33030 9886 17996 29196 118402 25170 6132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.7169811 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.5007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.28 0.14 182 ENSG00000174501 . ANKRD36C . dist\x3d25231\x3bdist\x3d3796 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76809881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76809881 rs76809881 1 1538 10 1/0 0,255,255 +rs78607440 2 96519500 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96519500 96519500 Chr2(GRCh37):g.96519500C>T 6203 6203 NM_001310154.1:c.6203G>A p.Gly2068Glu p.Gly2068Glu 85 -44 5' 77.6903 7.44314 0.941382 III.58 77.6903 7.44314 0.941382 4.14873 0 rs78607440 no no 0 C 0.000000 0 transition G A G>A 0.047 0.286 G Gly GGG 0.250 E Glu GAG 0.583 2068 12 2 Chimp -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 1 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.G6203A:p.G2068E . . 0.3846154 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.008 . . 39.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G2068E|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . -1.3010 -1.289 -1.301 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.245 . . exonic intergenic exonic . . 0.186 @ . . . 0.5 0.35 182 ENSG00000174501 . ANKRD36C . dist\x3d26771\x3bdist\x3d2256 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.044 . . 0.393 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.101 . 0.083 . HET 1 rs78607440 . . . . . . . . . . . . IV.78 . . II.19 0.945 . 1.000000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.465 . 0.106 0.106000 . . 1.000000 . . 1.0E-255 0.321 0.253 . 0.083 0.175 . 0.417 . 0.080 0.106 -0.520 . . . rs75297663 rs75297663 1 1538 10 1/0 0,255,255 +rs79910693 2 96519520 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96519520 96519520 Chr2(GRCh37):g.96519520G>A 6183 6183 NM_001310154.1:c.6183C>T p.His2061= p.His2061His 85 -64 5' 77.6903 7.44314 0.941382 III.58 77.6903 7.44314 0.941382 3.22293 0 Cryptic Acceptor Strongly Activated 96519506 4.35115 0.310341 73.6834 5.33792 0.329624 76.4563 rs79910693 yes no Frequency/1000G 2 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222296 14096 31084 9430 15696 28066 97790 21104 5030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 55 Exomes transition C T C>T 0.000 -0.037 H His CAC 0.587 H His CAT 0.413 2061 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.C6183T:p.H2061H . . 0.34 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H2061|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . -0.0027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.0002 . . . 0.46 0.35 182 ENSG00000174501 . ANKRD36C . dist\x3d26791\x3bdist\x3d2236 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79910693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.499e-06 0 0 0 0 1.023e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2109985 rs2109985 rs2109985 rs2109985 1 1538 10 1/0 0,255,255 +. 2 96519558 ATCGT A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 deletion frameshift exon GRCh37 96519559 96519562 Chr2(GRCh37):g.96519559_96519562del 6141 6144 NM_001310154.1:c.6141_6144del p.Lys2047Asnfs*18 p.Lys2047Asnfs*18 85 48 3' 79.7969 3.68348 0.022811 0 79.7969 3.68348 0.022811 0 0 Cryptic Acceptor Strongly Activated 96519554 52.0227 1.96764 3,00E-06 70.4493 rs373126569 no no 0 0.000000 0 ACGA 255 Pass . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.6141_6144del:p.K2047fs . . 0.30612245 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 49 . . FRAME_SHIFT(HIGH||||ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . frameshift_deletion . . . exonic intergenic exonic . . . . . . . . . . ENSG00000174501 . ANKRD36C . dist\x3d26830\x3bdist\x3d2194 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373126569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs373126569 rs373126569 1 1538 10 1.I 0,10,51 +rs78552738 2 96519587 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96519587 96519587 Chr2(GRCh37):g.96519587T>C 6116 6116 NM_001310154.1:c.6116A>G p.Gln2039Arg p.Gln2039Arg 85 23 3' 79.7969 3.68348 0.022811 0 79.7969 3.68348 0.022811 0 0 rs78552738 no no 0 T 0.000000 0 transition A G A>G 0.992 1.255 Q Gln CAA 0.256 R Arg CGA 0.110 2039 12 10 Zebrafish 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 353.86 0.00 Deleterious 0 3.II 246 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.A6116G:p.Q2039R . . 0.29787233 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.150 . @ . . . . . 1 0.148 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q2039R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . -0.2333 -0.288 -0.233 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.471 . . exonic intergenic exonic . . 0.268 @ . . . 0.61 0.39 182 ENSG00000174501 . ANKRD36C . dist\x3d26858\x3bdist\x3d2169 . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.384 . . 0.301 . . . . 0.279 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.576 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.309 . . . . . 0.201 . 0.240 . HET 0 rs78552738 . . . . . . . . . . . . VI.23 . . II.19 II.19 . 0.350000 . . . . . . 0.305 . . II.19 . . . . . . . . . . . . . . . . . . . 0.465 . 1.021 1.021000 . . 0.350000 . . 1.0E-246 1.000 0.715 . 0.200 0.339 . 0.530 . 0.280 1.021 0.755 . rs4063054 rs4063054 rs4063054 rs4063054 1 1538 10 1/0 0,255,255 +rs56121945 2 96519588 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution stop gain exon GRCh37 96519588 96519588 Chr2(GRCh37):g.96519588G>A 6115 6115 NM_001310154.1:c.6115C>T p.Gln2039* p.Gln2039* 85 22 3' 79.7969 3.68348 0.022811 0 79.7969 3.68348 0.022811 0 0 rs56121945 no no 0 G 0.000000 0 transition C T C>T 0.992 1.497 Q Gln CAA 0.256 * * TAA 0.277 2039 253 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon85:c.C6115T:p.Q2039X . . 0.31914893 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.968 . @ . . . . . 0 0.416 . . 47.0 . . STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q2039*|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.85) . . . . . . . 0.5210 0.224 0.521 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . stopgain . . . exonic intergenic exonic . . 0.268 @ . . . 0.57 0.33 182 ENSG00000174501 . ANKRD36C . dist\x3d26859\x3bdist\x3d2168 . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.287 . . . HET 0 rs56121945 . . . . . . . . . . . . VII.83 . . II.19 II.19 . 0.200000 . . . . . . 0.307 . . II.19 . . . . . . . . . . . . . . . . . . . 0.465 . 1.239 1.239000 . . 0.200000 . . 1.0E-253 1.000 0.715 . 0.209 0.372 . 0.481 . 0.280 1.239 0.697 . rs4063025 rs4063025 rs4063025 rs4063025 1 1538 10 1/0 0,255,255 +rs138370118 2 96521046 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521046 96521046 Chr2(GRCh37):g.96521046A>G 6061 6061 NM_001310154.1:c.6061T>C p.Cys2021Arg p.Cys2021Arg 84 -33 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.74012 0 rs138370118 yes no Frequency 1 A 0.000000 0 0.000226 0.000519 0.000456 0.000215 0.000060 0.000637 0.000070 0.000043 0.000528 0.000637 55 11 13 2 1 16 8 1 3 243622 21182 28504 9304 16622 25110 113956 23260 5684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 11 13 2 1 16 8 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.044 C Cys TGC 0.552 R Arg CGC 0.190 2021 12 5 Rat -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 353.86 0.00 Tolerated 0.32 3.II 208 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T6061C:p.C2021R . . 0.18518518 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.012 . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C2021R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.2862 -1.444 -1.286 c . . . . . 3.252e-04 . . . 0.0004 0.0003 0 0 0.0012 0.0005 0 7.037e-05 0.0005 0.0004 0 0 0.0007 0.0005 0 7.078e-05 nonsynonymous_SNV . nonsynonymous_SNV 0.133 . . exonic downstream exonic . . 0.114 @ . . . 0.29 0.21 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.133 . . 0.384 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.824 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.142 . . . . . 0.183 . 0.030 . HET 0.15 rs138370118 . . . . . . . . . . . . V.32 . . 2.XI -0.487 . 0.570000 . . . . . . 0.103 . . . 0.0008 0.0002 0.0005 0.0002 6.653e-05 0 8.057e-05 0.0006 0.0006 0.0001 6.712e-05 0 0 0 0.0003 0 0 . . 0.484 . -0.114 -0.114000 . . 0.570000 . . 9.999999999999999E-209 0.978 0.348 . 0.016 0.169 . 0.328 . 0.003 -0.114 0.804 . . . rs138370118 rs138370118 1 1538 10 1/0 0,255,255 +rs2950724 2 96521049 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521049 96521049 Chr2(GRCh37):g.96521049T>C 6058 6058 NM_001310154.1:c.6058A>G p.Lys2020Glu p.Lys2020Glu 84 -36 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.33794 0 rs2950724 yes no Frequency 1 T 0.000000 0 0.000191 0.000411 0.000370 0.000210 0.000000 0.000468 0.000094 0.000000 0.000511 0.000468 48 9 11 2 0 12 11 0 3 251406 21886 29732 9532 17236 25622 117396 24126 5876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 9 11 2 0 12 11 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.328 K Lys AAA 0.425 E Glu GAA 0.417 2020 12 2 Chimp 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 1 3.II 208 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A6058G:p.K2020E . . 0.18518518 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.000 . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K2020E|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.8278 -1.934 -1.828 c . . . . . 2.617e-04 . . . 0.0004 0.0002 0 0 0.0012 0.0003 0 6.771e-05 0.0005 0.0003 0 0 0.0007 0.0005 0 6.81e-05 nonsynonymous_SNV . nonsynonymous_SNV 0.134 . . exonic downstream exonic . . 0.035 @ . . . 0.32 0.28 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.061 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.030 . . 0.339 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.079 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.026 . 0.078 . HET 0.29 rs2950724 . . . . . . . . . . . . 1.663 . . 2.I -4.2 . 1.000000 . . . . . . 0.027 . . . 0.0007 0.0002 0.0004 0.0002 0 0 9.753e-05 0.0006 0.0005 0 3.281e-05 0 0 0 0 6.729e-05 0 . . 0.484 . -1.364 -1.364000 . . 1.000000 . . 9.999999999999999E-209 0.370 0.257 . 0.016 0.160 . 0.071 . 0.003 -1.364 -0.143 . rs2950724 rs2950724 rs2950724 rs2950724 1 1538 10 1/0 0,255,255 +rs201490056 2 96521060 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521060 96521060 Chr2(GRCh37):g.96521060G>A 6047 6047 NM_001310154.1:c.6047C>T p.Ser2016Leu p.Ser2016Leu 84 -47 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 1.57159 0 rs201490056 yes no Frequency 1 G 0.000000 0 0.000181 0.000273 0.000820 0.000000 0.000059 0.000191 0.000067 0.000000 0.000168 0.000820 46 6 25 0 1 5 8 0 1 254312 22006 30486 9678 16986 26178 118604 24438 5936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 6 25 0 1 5 8 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.039 -0.037 S Ser TCG 0.056 L Leu TTG 0.127 2016 12 2 Chimp -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Tolerated 1 3.VII 181 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C6047T:p.S2016L . . 0.25 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.002 . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S2016L|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.5226 -1.482 -1.523 c . . . . . 1.980e-04 . . . 0.0001 0.0002 0.0012 0 0.0003 8.304e-05 0 0 0.0001 0.0002 0.0012 0 0.0002 0.0002 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.040 . . exonic downstream exonic . . 0.115 @ . . . 0.31 0.19 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.039 0.002 . . 37 . 0.009 . . 0.455 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.179 . 0.181 . HET 1 rs201490056 . . . . . . . . . . . . 5.867 . . 2.XI -0.462 . 1.000000 . . . . . . 0.024 . . . 0.0004 0.0002 0.0008 0 6.501e-05 0 7.693e-05 0.0002 0.0002 0 3.315e-05 0.0012 0 0 0 0 0 . . 0.484 . -0.093 -0.093000 . . 1.000000 . . 1.0E-181 1.000 0.715 . 0.111 0.355 . 0.430 . 0.066 -0.093 -0.489 . . . rs201490056 rs201490056 1 1538 10 1/0 0,255,255 +rs759222205 2 96521072 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521072 96521072 Chr2(GRCh37):g.96521072T>C 6035 6035 NM_001310154.1:c.6035A>G p.Glu2012Gly p.Glu2012Gly 84 -59 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 1.86902 0 rs759222205 yes no Frequency 1 T 0.000000 0 0.000121 0.000284 0.000231 0.000106 0.000061 0.000371 0.000047 0.000000 0.000000 0.000371 28 4 7 1 1 10 5 0 0 230472 14108 30280 9428 16304 26924 107008 21322 5098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 4 7 1 1 10 5 0 0 0 0 0 0 0 0 0 0 0 RF 60 Exomes transition A G A>G 0.000 0.528 E Glu GAA 0.417 G Gly GGA 0.246 2012 12 5 Rat -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Tolerated 0.07 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A6035G:p.E2012G . . 0.33333334 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.799 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E2012G|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.2895 -0.472 -0.290 c . . . . . 1.109e-04 . . . 0 5.882e-05 9.208e-05 0 0.0008 2.564e-05 0 0 0 0.0001 9.495e-05 0 0.0005 0.0001 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.179 . . exonic downstream exonic . . 0.179 @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.253 . . 0.207 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.909 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.599 . . . . . 0.161 . 0.298 . HET 0.07 rs759222205 . . . . . . . . . . . . V.24 . . 2.XI 0.82 . 0.000000 . . . . . . 0.309 . . . 0.0003 0.0001 0.0002 0.0001 6.133e-05 0 4.673e-05 0 0.0004 . . . . . . . . . . 0.484 . 0.213 0.213000 . . 0.000000 . . 1.0E-255 0.986 0.359 . 0.090 0.351 . 0.629 . 0.280 0.213 0.755 . . . . . 1 1538 10 1/0 0,255,255 +rs2950725 2 96521077 C G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521077 96521077 Chr2(GRCh37):g.96521077C>G 6030 6030 NM_001310154.1:c.6030G>C p.Val2010= p.Val2010Val 84 -64 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.03903 0 rs2950725 yes no Frequency 1 C 0.000000 0 0.000140 0.000215 0.000268 0.000213 0.000062 0.000452 0.000047 0.000047 0.000000 0.000452 32 3 8 2 1 12 5 1 0 228686 13984 29846 9368 16182 26526 106444 21272 5064 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 3 8 2 1 12 5 1 0 0 0 0 0 0 0 0 0 0 RF 61 Exomes transversion G C G>C 0.000 -0.117 V Val GTG 0.468 V Val GTC 0.240 2010 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G6030C:p.V2010V . . 0.36 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtC|V2010|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.2056 . . . . . . . . 1.109e-04 . . . 0 5.824e-05 9.116e-05 0 0.0008 2.527e-05 0 0 0 9.934e-05 9.4e-05 0 0.0005 0.0001 0 0 synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.33 0.17 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2950725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 0.0003 0.0002 6.18e-05 4.701e-05 4.697e-05 0 0.0005 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2950725 rs2950725 rs2950725 rs2950725 1 1538 10 1/0 0,255,255 +. 2 96521082 A T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521082 96521082 Chr2(GRCh37):g.96521082A>T 6025 6025 NM_001310154.1:c.6025T>A p.Leu2009Met p.Leu2009Met 84 -69 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.58255 0 Cryptic Donor Strongly Activated 96521080 1.75646 0.03953 70.847 3.53743 0.160876 74.6683 transversion T A T>A 0.039 0.448 L Leu TTG 0.127 M Met ATG 1.000 2009 12 10 Zebrafish 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 353.86 0.00 Deleterious 0 3.II 180 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T6025A:p.L2009M . . 0.115384616 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.372 . @ . . . . . 1 0.513 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Atg|L2009M|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.3932 -0.579 -0.393 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.309 . . exonic downstream exonic . . 0.181 @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.372 . . 0.306 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.425 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.721 . . . . . 0.125 . 0.382 . LowAF 0 . . . . . . . . . . . . . IV.15 . . 2.XI 0.863 . 0.080000 . . . . . . 0.273 . . . . . . . . . . . . . . . . . . . . . . 0.484 . 0.223 0.223000 . . 0.080000 . . 1.0E-180 0.998 0.411 . 0.074 0.082 . 0.299 . 0.284 0.223 0.804 . . . . . 1 1538 10 1/0 0,255,255 +rs200183690 2 96521090 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521090 96521090 Chr2(GRCh37):g.96521090T>C 6017 6017 NM_001310154.1:c.6017A>G p.Asn2006Ser p.Asn2006Ser 84 -77 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.01285 0 rs200183690 yes no Frequency 1 T 0.000000 0 0.000079 0.000129 0.000126 0.000000 0.000000 0.000073 0.000089 0.000040 0.000000 0.000129 21 3 4 0 0 2 11 1 0 264624 23168 31654 9778 18176 27546 123140 24984 6178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 3 4 0 0 2 11 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.016 0.044 N Asn AAT 0.464 S Ser AGT 0.149 2006 12 8 Tetraodon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.38 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A6017G:p.N2006S . . 0.35849056 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.178 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2006S|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.7333 -0.907 -0.733 c . . . . . 9.502e-05 . . . 0.0001 0.0001 0 0 0 0.0002 0 0 0.0001 7.765e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.168 . . exonic downstream exonic . . 0.107 @ . . . 0.36 0.23 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.198 . . 0.273 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.750 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.298 . . . . . 0.054 . 0.031 . HET 0.01 rs200183690 . . . . . . . . . . . . II.88 . . 2.XI -0.684 . 0.110000 . . . . . . 0.242 . . . 0.0002 8.131e-05 0.0001 0 0 4.652e-05 8.323e-05 0 7.261e-05 0 6.46e-05 0 0 0 0 0.0001 0 . . 0.484 . -0.143 -0.143000 . . 0.110000 . . 1.0E-255 0.998 0.411 . 0.043 0.068 . 0.269 . 0.016 -0.143 0.755 . . . rs200183690 rs200183690 1 1538 10 1/0 0,255,255 +rs756678939 2 96521094 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521094 96521094 Chr2(GRCh37):g.96521094C>T 6013 6013 NM_001310154.1:c.6013G>A p.Asp2005Asn p.Asp2005Asn 84 -81 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs756678939 yes no Frequency 1 C 0.000000 0 0.000017 0.000069 0.000032 0.000000 0.000000 0.000071 0.000000 0.000000 0.000000 0.000071 4 1 1 0 0 2 0 0 0 235480 14536 31252 9542 16648 28002 108638 21638 5224 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 64 Exomes transition G A G>A 0.000 0.044 D Asp GAC 0.539 N Asn AAC 0.536 2005 12 4 Olive baboon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.81 3.II 234 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G6013A:p.D2005N . . 0.2580645 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.263 . @ . . . . . 1 0.225 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2005N|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.7326 -0.838 -0.733 c . . . . . 5.543e-05 . . . 0.0001 4.54e-05 0 0 0 7.337e-05 0 0 0.0001 3.861e-05 0 0 0 5.647e-05 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.130 . . exonic downstream exonic . . 0.114 @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.056 . . 0.384 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.125 . . . . . 0.064 . 0.007 . HET 0.39 rs756678939 . . . . . . . . . . . . 3.267 . . 2.XI -0.491 . 0.240000 . . . . . . 0.071 . . . 6.879e-05 1.699e-05 3.2e-05 0 0 0 0 0 7.142e-05 . . . . . . . . . . 0.484 . -0.112 -0.112000 . . 0.240000 . . 1.0E-234 1.000 0.715 . 0.043 0.015 . 0.267 . 0.070 -0.112 -0.334 . . . . . 1 1538 10 1/0 0,255,255 +rs115953176 2 96521107 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521107 96521107 Chr2(GRCh37):g.96521107G>A 6000 6000 NM_001310154.1:c.6000C>T p.Leu2000= p.Leu2000Leu 84 -94 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs115953176 yes no Frequency/1000G 2 G 0.000000 0 0.000430 0.004466 0.000119 0.000000 0.000000 0.000102 0.000024 0.000000 0.000315 0.004466 117 105 4 0 0 3 3 0 2 272058 23512 33630 10056 18640 29454 125054 25360 6352 0.000007 0.000085 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 112 101 3 0 0 3 3 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.247 L Leu CTC 0.197 L Leu CTT 0.129 2000 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C6000T:p.L2000L . . 0.46666667 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 90.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L2000|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.4382 . . . . . . . . 4.673e-04 . . . 0.0056 0.0007 8.747e-05 0 0 4.844e-05 0 6.066e-05 0.0054 0.0005 9.022e-05 0 0 1.868e-05 0 6.101e-05 synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . 0.0571 . . . 0.37 0.27 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115953176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0049 0.0003 0.0001 0 0 0 1.815e-05 0.0002 0.0001 0.0037 0.0011 0 0 0 0 6.732e-05 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs115953176 rs115953176 1 1538 10 1/0 0,254,255 +rs200422439 2 96521337 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution stop gain exon GRCh37 96521337 96521337 Chr2(GRCh37):g.96521337G>A 5770 5770 NM_001310154.1:c.5770C>T p.Gln1924* p.Gln1924* 84 -324 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs200422439 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222528 13624 30600 9424 15680 29200 97598 21378 5024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 75 Exomes transition C T C>T 0.441 -0.117 Q Gln CAA 0.256 * * TAA 0.277 1924 207 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5770T:p.Q1924X . . 0.1767442 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.958 . @ . . . . . 0 0.271 . . 215.0 . . STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q1924*|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.2087 -0.162 0.209 c . . . . . 8.018e-06 . . . . . . . . . . . 0 1.329e-05 0 0 0 2.748e-05 0 0 stopgain . stopgain . . . exonic downstream exonic . . 0.128 @ . . . 0.28 0.16 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.140 . . . HET 0.01 rs200422439 . . . . . . . . . . . . 5.0932 . . 2.XI -0.115 . 0.280000 . . . . . . 0.258 . . . 0 4.494e-06 0 0 0 0 1.025e-05 0 0 . . . . . . . . . . 0.730 . -0.028 -0.028000 . . 0.280000 . . 1.0E-207 0.998 0.411 . 0.149 0.043 . 0.366 . 0.280 -0.028 0.697 . . . rs77121955 rs200422439 1 1538 10 1/0 0,200,255 +rs62156906 2 96521406 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521406 96521406 Chr2(GRCh37):g.96521406C>T 5701 5701 NM_001310154.1:c.5701G>A p.Gly1901Arg p.Gly1901Arg 84 -393 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs62156906 yes no Frequency 1 C 0.000000 0 0.000731 0.000378 0.000195 0.000437 0.000128 0.000431 0.000986 0.001603 0.001013 0.001603 158 5 6 4 2 12 95 29 5 216118 13222 30838 9158 15666 27836 96376 18086 4936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 158 5 6 4 2 12 95 29 5 0 0 0 0 0 0 0 0 0 RF 95 Exomes transition G A G>A 0.000 0.044 G Gly GGA 0.246 R Arg AGA 0.205 1901 12 2 Chimp -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.66 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G5701A:p.G1901R . . 0.61809045 . . @ 123 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.002 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1901R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.4380 -1.483 -1.438 c . . . . . 5.377e-03 . . . 0.0060 0.0035 0.0022 0.0039 0.0003 0.0040 0 0.0024 0.0039 0.0020 0.0018 0.0023 0.0007 0.0017 0 0.0025 nonsynonymous_SNV . nonsynonymous_SNV 0.104 . . exonic downstream exonic . . 0.116 @ . . . 0.26 0.2 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.004 0.001 . . 37 . 0.020 . . 0.439 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.167 . 0.047 . HET 0.96 rs62156906 . . . . . . . . . . . . V.16 . . 2.XI -0.429 . 1.000000 . . . . . . 0.005 . . . 0.0004 0.0007 0.0002 0.0004 0.0001 0.0016 0.0010 0.0010 0.0004 . . . . . . . . . . 0.310 . -0.104 -0.104000 . . 1.000000 . . 1.0E-255 0.005 0.169 . 0.247 0.029 . 0.320 . 0.107 -0.104 -1.513 . rs62156906 rs62156906 rs62156906 rs62156906 1 1538 10 1/0 0,235,238 +rs76822280 2 96521418 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521418 96521418 Chr2(GRCh37):g.96521418G>A 5689 5689 NM_001310154.1:c.5689C>T p.Leu1897Phe p.Leu1897Phe 84 -405 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 Cryptic Acceptor Strongly Activated 96521405 2.70759 0.016867 79.6357 3.00791 0.069658 82.7514 rs76822280 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243150 15014 33216 9796 17068 30606 110016 22036 5398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 77 Exomes transition C T C>T 0.087 0.286 L Leu CTC 0.197 F Phe TTC 0.546 1897 12 7 Frog 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.15 3.II 224 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5689T:p.L1897F . . 0.22325581 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.253 . . 215.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L1897F|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.4672 -0.619 -0.467 c . . . . . 1.834e-04 . . . 0.0003 8.265e-05 9.301e-05 0.0002 0 0 0 0.0001 0.0003 8.118e-05 9.593e-05 0.0001 0 3.996e-05 0 0.0001 nonsynonymous_SNV . nonsynonymous_SNV 0.184 . . exonic downstream exonic . . 0.144 @ . . . 0.27 0.2 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.165 . . 0.284 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.381 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.250 . . . . . 0.175 . 0.143 . HET 0.14 rs76822280 . . . . . . . . . . . . V.58 . . 2.XI 0.201 . 0.190000 . . . . . . 0.261 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . 0.031 0.031000 . . 0.190000 . . 1.0E-224 1.000 0.715 . 0.167 0.155 . 0.465 . 0.280 0.031 0.697 . . . rs76822280 rs76822280 1 1538 10 1/0 0,204,255 +rs74850719 2 96521438 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521438 96521438 Chr2(GRCh37):g.96521438A>G 5669 5669 NM_001310154.1:c.5669T>C p.Phe1890Ser p.Phe1890Ser 84 -425 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs74850719 yes no Frequency 1 A 0.000000 0 0.000016 0.000000 0.000120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000120 4 0 4 0 0 0 0 0 0 245336 15204 33428 9838 17200 30772 111222 22234 5438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 78 Exomes transition T C T>C 0.441 -0.440 F Phe TTC 0.546 S Ser TCC 0.220 1890 12 3 Olive baboon -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 353.86 0.00 Tolerated 0.57 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5669C:p.F1890S . . 0.63380283 . . @ 135 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.027 . . 213.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F1890S|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.6947 -1.772 -1.695 c . . . . . 1.595e-05 . . . 0 1.142e-05 8.925e-05 0 0 0 0 0 0 9.778e-06 9.201e-05 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.140 . . exonic downstream exonic . . 0.067 @ . . . 0.26 0.21 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.045 . . 0.445 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.527 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.049 . . . . . 0.248 . 0.157 . HET 0.04 rs74850719 . . . . . . . . . . . . 7.1853 . . 2.XI -2.14 . 0.620000 . . . . . . 0.062 . . . 0 1.63e-05 0.0001 0 0 0 0 0 0 . . . . . . . . . . 0.730 . -0.510 -0.510000 . . 0.620000 . . 1.0E-255 0.715 0.285 . 0.108 0.121 . 0.340 . 0.004 -0.510 -0.050 . . . rs74850719 rs74850719 1 1538 10 1/0 0,233,236 +. 2 96521448 C CA - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 duplication stop gain exon GRCh37 96521448 96521449 Chr2(GRCh37):g.96521449dup 5658 5658 NM_001310154.1:c.5658dup p.Glu1887* p.Glu1887* 84 -435 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs113448291 no no 0 0.000000 0 T 255 Pass . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.5658dupT:p.E1887_S1888delinsX . . 0.3287037 . . . 71 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 216 . . FRAME_SHIFT(HIGH||||ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . stopgain . . . exonic downstream exonic . . . . . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113448291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113448291 rs113448291 1 1538 10 1.I 0,11,48 +rs79980324 2 96521455 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521455 96521455 Chr2(GRCh37):g.96521455A>G 5652 5652 NM_001310154.1:c.5652T>C p.Ser1884= p.Ser1884Ser 84 -442 5' 84.8093 9.81513 0.993781 2.10854 84.8093 9.81513 0.993781 2.10854 0 rs79980324 no no 0 A 0.000000 0 transition T C T>C 0.992 0.125 S Ser TCT 0.185 S Ser TCC 0.220 1884 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5652C:p.S1884S . . 0.60091746 . . @ 131 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 218.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S1884|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.5377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.27 0.23 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79980324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79980324 rs79980324 1 1538 10 1/0 0,232,239 +rs796858032 2 96521479 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521479 96521479 Chr2(GRCh37):g.96521479A>G 5628 5628 NM_001310154.1:c.5628T>C p.Val1876= p.Val1876Val 84 450 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs796858032 no no 0 A 0.000000 0 transition T C T>C 0.520 0.448 V Val GTT 0.178 V Val GTC 0.240 1876 211 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5628C:p.V1876V . . 0.18627451 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V1876|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.1561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +rs200660194 2 96521481 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521481 96521481 Chr2(GRCh37):g.96521481C>T 5626 5626 NM_001310154.1:c.5626G>A p.Val1876Ile p.Val1876Ile 84 448 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs200660194 no no 0 C 0.000000 0 transition G A G>A 0.000 -1.732 V Val GTT 0.178 I Ile ATT 0.356 1876 12 5 Tetraodon 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.35 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G5626A:p.V1876I . . 0.58115184 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.002 . . 191.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V1876I|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.2463 -1.432 -1.246 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.149 . . exonic downstream exonic . . 0.041 @ . . . 0.34 0.22 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.047 . . 0.304 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.093 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.096 . . . . . 0.002 . 0.118 . HET 0.55 rs200660194 . . . . . . . . . . . . 0.2453 . . I.87 -3.74 . 0.310000 . . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.730 . -1.681 -1.681000 . . 0.310000 . . 1.0E-255 0.000 0.063 . 0.108 0.062 . 0.019 . 0.277 -1.681 -0.292 . . . rs200660194 rs200660194 1 1538 10 1/0 0,238,248 +rs201815665 2 96521483 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521483 96521483 Chr2(GRCh37):g.96521483T>C 5624 5624 NM_001310154.1:c.5624A>G p.His1875Arg p.His1875Arg 84 446 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs201815665 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.037 H His CAT 0.413 R Arg CGT 0.082 1875 12 2 Chimp 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Tolerated 0.25 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A5624G:p.H1875R . . 0.556701 . . @ 108 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.004 . . 194.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H1875R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.1507 -1.333 -1.151 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.134 . . exonic downstream exonic . . 0.097 @ . . . 0.38 0.3 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.142 . . 0.324 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.505 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.457 . . . . . 0.257 . 0.045 . HET 0.12 rs201815665 . . . . . . . . . . . . 7.354 . . I.87 -0.975 . 0.190000 . . . . . . 0.084 . . . . . . . . . . . . . . . . . . . . . . 0.730 . -0.210 -0.210000 . . 0.190000 . . 1.0E-255 0.051 0.212 . 0.016 0.017 . 0.328 . 0.007 -0.210 -0.143 . . . rs201815665 rs201815665 1 1538 10 1/0 0,235,248 +rs200108004 2 96521484 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521484 96521484 Chr2(GRCh37):g.96521484G>A 5623 5623 NM_001310154.1:c.5623C>T p.His1875Tyr p.His1875Tyr 84 445 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs200108004 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.198 H His CAT 0.413 Y Tyr TAT 0.438 1875 12 2 Chimp 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.21 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5623T:p.H1875Y . . 0.5561224 . . @ 109 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.110 . . 196.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H1875Y|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.0907 -1.276 -1.091 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.139 . . exonic downstream exonic . . 0.126 @ . . . 0.35 0.19 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.151 . . 0.276 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.603 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.506 . . . . . 0.194 . 0.147 . HET 0.05 rs200108004 . . . . . . . . . . . . 6.1552 . . I.87 -0.172 . 0.010000 . . . . . . 0.048 . . . . . . . . . . . . . . . . . . . . . . 0.730 . -0.371 -0.371000 . . 0.010000 . . 1.0E-255 0.052 0.213 . 0.016 0.008 . 0.220 . 0.002 -0.371 -1.941 . . . rs200108004 rs200108004 1 1538 10 1/0 0,235,248 +rs201100797 2 96521486 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521486 96521486 Chr2(GRCh37):g.96521486G>A 5621 5621 NM_001310154.1:c.5621C>T p.Ser1874Phe p.Ser1874Phe 84 443 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs201100797 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.682 S Ser TCT 0.185 F Phe TTT 0.454 1874 12 4 Olive baboon -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C0 353.86 0.00 Tolerated 0.71 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5621T:p.S1874F . . 0.55737704 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.001 . . 183.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S1874F|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.8323 -1.041 -0.832 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.130 . . exonic downstream exonic . . 0.066 @ . . . 0.34 0.23 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.102 . . 0.339 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.075 . . . . . 0.083 . 0.221 . HET 0.64 rs201100797 . . . . . . . . . . . . III.14 . . I.87 -2.16 . 0.100000 . . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.730 . -0.596 -0.596000 . . 0.100000 . . 1.0E-255 0.071 0.219 . 0.043 0.007 . 0.119 . 0.086 -0.596 -0.942 . . . rs201100797 rs201100797 1 1538 10 1/0 0,238,251 +rs796454200 2 96521487 A C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521487 96521487 Chr2(GRCh37):g.96521487A>C 5620 5620 NM_001310154.1:c.5620T>G p.Ser1874Ala p.Ser1874Ala 84 442 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs796454200 no no 0 A 0.000000 0 transversion T G T>G 0.110 0.690 S Ser TCT 0.185 A Ala GCT 0.263 1874 12 4 Olive baboon 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.56 3.II 234 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5620G:p.S1874A . . 0.25490198 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.161 . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Gct|S1874A|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.4644 -0.594 -0.464 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.139 . . exonic downstream exonic . . 0.244 @ . . . . . . ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.121 . . 0.317 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.117 . . . . . 0.075 . 0.202 . HET 0.79 . . . . . . . . . . . . . III.02 . . I.87 I.87 . 0.750000 . . . . . . 0.233 . . . . . . . . . . . . . . . . . . . . . . 0.730 . 1.118 1.118000 . . 0.750000 . . 1.0E-234 0.631 0.278 . 0.062 0.010 . 0.369 . 0.284 1.118 0.804 . . . . . 1 1538 10 1/0 0,210,255 +rs78536198 2 96521512 A C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521512 96521512 Chr2(GRCh37):g.96521512A>C 5595 5595 NM_001310154.1:c.5595T>G p.Cys1865Trp p.Cys1865Trp 84 417 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs78536198 no no 0 A 0.000000 0 transversion T G T>G 0.976 0.770 C Cys TGT 0.448 W Trp TGG 1.000 1865 12 2 Chimp -5 -2 -5 II.75 0.13 5.V 5.IV 55 170 215 C0 353.86 0.00 Tolerated 0.95 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.T5595G:p.C1865W . . 0.608871 . . @ 151 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.013 . . 248.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgT/tgG|C1865W|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.7964 -0.723 -0.796 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.110 . . exonic downstream exonic . . 0.188 @ . . . 0.36 0.28 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.051 0.003 . . 37 . 0.023 . . 0.414 . . . . 0.340 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.050 . . . . . 0.272 . 0.414 . HET 0.61 rs78536198 0.022 0.022 . . . . . . . . . . 7.621 . . I.87 0.974 . 0.450000 . . . . . . 0.046 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.354 0.354000 . . 0.450000 . . 1.0E-255 1.000 0.715 . 0.141 0.082 . 0.440 . 0.063 0.354 -0.995 0.022 . . rs78536198 rs78536198 1 1538 10 1/0 0,226,232 +rs112058478 2 96521548 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521548 96521548 Chr2(GRCh37):g.96521548G>A 5559 5559 NM_001310154.1:c.5559C>T p.Asp1853= p.Asp1853Asp 84 381 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs112058478 no no 0 G 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000155 0.000008 2 0 0 0 0 0 1 0 1 276916 23986 34362 10146 18856 30766 126570 25782 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.984 0.609 D Asp GAC 0.539 D Asp GAT 0.461 1853 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5559T:p.D1853D . . 0.54710144 . . @ 151 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 276.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1853|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.8632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.39 0.28 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112058478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.131e-06 0 0 0 0 8.962e-06 0.0002 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112058478 rs112058478 1 1538 10 1/0 0,222,239 +rs77601294 2 96521556 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521556 96521556 Chr2(GRCh37):g.96521556T>C 5551 5551 NM_001310154.1:c.5551A>G p.Lys1851Glu p.Lys1851Glu 84 373 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77601294 no no 0 T 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000033 0.000008 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 276912 23988 34362 10150 18858 30760 126586 25768 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.992 -0.440 K Lys AAA 0.425 E Glu GAA 0.417 1851 12 8 Tetraodon 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 0.18 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A5551G:p.K1851E . . 0.5090909 . . @ 140 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.152 . . 275.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1851E|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.6281 -0.729 -0.628 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.184 . . exonic downstream exonic . . 0.063 @ . . . 0.38 0.3 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.165 . . 0.319 . . . . 0.230 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.531 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.277 . . . . . 0.243 . 0.065 . HET 0.04 rs77601294 . . . . . . . . . . . . 7.0814 . . I.87 -2.32 . 0.170000 . . . . . . 0.241 . . . 0 8.131e-06 0 0 0 0 8.96e-06 0 3.251e-05 0 0 0 0 0 0 0 0 . . 0.730 . -0.639 -0.639000 . . 0.170000 . . 1.0E-255 0.987 0.361 . 0.200 0.941 . 0.274 . 0.003 -0.639 -0.143 . . . rs77601294 rs77601294 1 1538 10 1/0 0,220,245 +rs75218243 2 96521563 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521563 96521563 Chr2(GRCh37):g.96521563G>A 5544 5544 NM_001310154.1:c.5544C>T p.His1848= p.His1848His 84 366 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs75218243 no no 0 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000008 1 0 0 0 0 0 1 0 0 276784 23986 34350 10148 18854 30764 126486 25756 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.866 0.125 H His CAC 0.587 H His CAT 0.413 1848 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5544T:p.H1848H . . 0.39925373 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 268.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H1848|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.2184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.37 0.21 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75218243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.067e-06 0 0 0 0 8.968e-06 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75218243 rs75218243 1 1538 10 1/0 0,213,255 +rs151242024 2 96521596 C G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521596 96521596 Chr2(GRCh37):g.96521596C>G 5511 5511 NM_001310154.1:c.5511G>C p.Leu1837= p.Leu1837Leu 84 333 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs151242024 no no 0 C 0.000000 0 transversion G C G>C 0.882 0.690 L Leu CTG 0.404 L Leu CTC 0.197 1837 209 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.G5511C:p.L1837L . . 0.18275861 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 290.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctC|L1837|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.4386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.39 0.27 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151242024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs151242024 rs151242024 1 1538 10 1/0 0,188,255 +rs77216432 2 96521607 G C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521607 96521607 Chr2(GRCh37):g.96521607G>C 5500 5500 NM_001310154.1:c.5500C>G p.Arg1834Gly p.Arg1834Gly 84 322 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77216432 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.913 1.981 R Arg CGT 0.082 G Gly GGT 0.162 1834 12 10 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5500G:p.R1834G . . 0.33208954 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.415 . @ . . . . . 1 0.285 . . 268.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R1834G|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.0678 -0.166 -0.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.174 . . exonic downstream exonic . . 0.244 @ . . . 0.36 0.25 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.059 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.246 . . 0.100 . . . . 0.291 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.794 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.599 . . . . . 0.393 . 0.543 . HET 0.01 rs77216432 . . . . . . . . . . . . 9.724 . . I.87 I.87 . 0.270000 . . . . . . 0.466 . . . . . . . . . . . . . . . . . . . . . . 0.730 . 1.361 1.361000 . . 0.270000 . . 1.0E-255 1.000 0.715 . 0.150 0.446 . 0.587 . 0.280 1.361 0.697 . . . rs77216432 rs77216432 1 1538 10 1/0 0,207,255 +rs79873536 2 96521608 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521608 96521608 Chr2(GRCh37):g.96521608G>A 5499 5499 NM_001310154.1:c.5499C>T p.Tyr1833= p.Tyr1833Tyr 84 321 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 Cryptic Acceptor Strongly Activated 96521599 3.63196 0.035797 75.2347 3.92569 0.102097 77.9466 rs79873536 no no 0 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245968 15278 33490 9842 17236 30776 111600 22286 5460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 81 Exomes transition C T C>T 0.921 0.286 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1833 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.C5499T:p.Y1833Y . . 0.3272727 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 275.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y1833|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.5006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . @ . . . 0.42 0.24 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79873536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.066e-06 0 0 0 0 8.961e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79873536 rs79873536 1 1538 10 1/0 0,205,255 +rs77089740 2 96521609 T C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521609 96521609 Chr2(GRCh37):g.96521609T>C 5498 5498 NM_001310154.1:c.5498A>G p.Tyr1833Cys p.Tyr1833Cys 84 320 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77089740 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.929 0.448 Y Tyr TAC 0.562 C Cys TGC 0.552 1833 12 5 Platypus -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 353.86 0.00 Tolerated 0.1 3.II 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon84:c.A5498G:p.Y1833C . . 0.32246378 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.248 . @ . . . . . 1 0.148 . . 276.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1833C|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.1363 -0.247 -0.136 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.166 . . exonic downstream exonic . . 0.244 @ . . . 0.44 0.35 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.233 . . 0.178 . . . . 0.189 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.952 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.481 . . . . . 0.094 . 0.628 . HET 0 rs77089740 . . . . . . . . . . . . 4.0882 . . I.87 I.87 . 0.070000 . . . . . . 0.275 . . . . . . . . . . . . . . . . . . . . . . 0.730 . 1.118 1.118000 . . 0.070000 . . 1.0E-255 0.999 0.424 . 0.169 0.526 . 0.391 . 0.280 1.118 0.755 . . . rs77089740 rs77089740 1 1538 10 1/0 0,204,255 +rs78178577 2 96521640 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521640 96521640 Chr2(GRCh37):g.96521640C>T 5467 5467 NM_001310154.1:c.5467G>A p.Gly1823Arg p.Gly1823Arg 84 289 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs78178577 yes no Frequency/1000G 2 T 0.000000 0 0.006589 0.000000 0.000000 0.020800 0.010900 0.001400 0.000444 0.000125 0.000233 0.000099 0.002921 0.000390 0.000332 0.000039 0.000155 0.002921 123 3 8 1 55 12 42 1 1 276776 24000 34284 10142 18828 30768 126548 25768 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123 3 8 1 55 12 42 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.535 0.528 G Gly GGG 0.250 R Arg AGG 0.207 1823 12 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.84 3.II 231 PASS . . . . . . 0.0066 0.0014 0.021 0.011 . . . ANKRD36C:NM_001310154:exon84:c.G5467A:p.G1823R . . 0.24369748 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.003 . . 238.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G1823R|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.9598 -0.984 -0.960 c . . . . . 6.316e-04 . . . 0 0.0005 0.0004 0.0040 0 0.0004 0 0.0004 0 0.0007 0.0004 0.0036 0 0.0006 0 0.0004 nonsynonymous_SNV . nonsynonymous_SNV 0.120 . . exonic downstream exonic . . 0.244 0.0066 . . . 0.43 0.33 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.039 . . 0.436 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.096 . . . . . 0.152 . 0.141 . HET 0.47 rs78178577 . . . . . . . . . . . . V.63 . . I.87 I.87 . 0.520000 . . . . . . 0.032 . . . 6.549e-05 0.0005 0.0002 0.0001 0.0030 4.49e-05 0.0003 0.0002 0.0004 0.0002 0.0004 0 0 0.0025 0 0.0004 0 . . 0.310 . 0.187 0.187000 . . 0.520000 . . 1.0E-231 1.000 0.715 . 0.043 0.007 . 0.521 . 0.080 0.187 -0.093 . . . rs78178577 rs78178577 1 1538 10 1/0 0,203,255 +rs199945797 2 96521665 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521665 96521665 Chr2(GRCh37):g.96521665A>G 5442 5442 NM_001310154.1:c.5442T>C p.Ser1814= p.Ser1814Ser 84 264 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs199945797 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.001500 0.000000 0.006000 0.005000 0.000000 0.000080 0.000125 0.000058 0.000000 0.000000 0.000130 0.000103 0.000000 0.000000 0.000130 22 3 2 0 0 4 13 0 0 276590 23988 34250 10142 18814 30772 126432 25754 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 3 2 0 0 4 13 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.969 -0.279 S Ser TCT 0.185 S Ser TCC 0.220 1814 185 PASS . . . . . 0.0015 0.0026 . 0.006 0.005 . . . ANKRD36C:NM_001310154:exon84:c.T5442C:p.S1814S . . 0.12254902 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S1814|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.2046 . . . . . . . . 1.600e-04 . . . 0 3.405e-05 0 0 0 7.332e-05 0 0 0 0.0002 0 0 0 0.0004 0 0 synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . 0.0026 . . . 0.41 0.34 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199945797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.553e-05 8.142e-05 5.986e-05 0 0 0 0.0001 0 0.0001 0.0002 6.46e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs199945797 rs199945797 1 1538 10 1.I 0,0,0 +rs200905909 2 96521669 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521669 96521669 Chr2(GRCh37):g.96521669C>T 5438 5438 NM_001310154.1:c.5438G>A p.Arg1813His p.Arg1813His 84 260 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs200905909 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.001500 0.000000 0.006000 0.005000 0.000000 0.000012 0.000000 0.000030 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000030 3 0 1 0 0 0 2 0 0 245570 15254 33410 9840 17198 30770 111394 22258 5446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 78 Exomes transition G A G>A 0.945 0.205 R Arg CGT 0.082 H His CAT 0.413 1813 12 6 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.07 3.II 183 PASS . . . . . 0.0015 0.0026 . 0.006 0.005 . . . ANKRD36C:NM_001310154:exon84:c.G5438A:p.R1813H . . 0.11881188 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.296 . . 202.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1813H|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.7339 -0.872 -0.734 c . . . . . 1.600e-05 . . . 0 1.138e-05 0 0 0 2.454e-05 0 0 0 9.736e-06 0 0 0 1.905e-05 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.143 . . exonic downstream exonic . . 0.173 0.0026 . . . 0.43 0.27 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.085 . . 0.359 . . . . 0.199 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.327 . . . . . 0.095 . 0.083 . LowAF 0.09 rs200905909 . . . . . . . . . . . . 4.1259 . . I.87 0.718 . 0.170000 . . . . . . 0.037 . . . 0 1.222e-05 2.993e-05 0 0 0 1.795e-05 0 0 . . . . . . . . . . 0.310 . 0.199 0.199000 . . 0.170000 . . 1.0E-183 0.007 0.175 . 0.062 0.065 . 0.073 . 0.070 0.199 -0.334 . . . rs200905909 rs200905909 1 1538 10 1.I 0,0,0 +rs202242743 2 96521671 G C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution synonymous exon GRCh37 96521671 96521671 Chr2(GRCh37):g.96521671G>C 5436 5436 NM_001310154.1:c.5436C>G p.Leu1812= p.Leu1812Leu 84 258 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs202242743 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.001500 0.000000 0.006000 0.005000 0.000000 0.000054 0.000000 0.000175 0.000000 0.000000 0.000065 0.000047 0.000000 0.000156 0.000175 15 0 6 0 0 2 6 0 1 276486 23994 34242 10126 18810 30768 126364 25752 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 6 0 0 2 6 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.953 0.125 L Leu CTC 0.197 L Leu CTG 0.404 1812 186 PASS . . . . . 0.0015 0.0026 . 0.006 0.005 . . . ANKRD36C:NM_001310154:exon84:c.C5436G:p.L1812L . . 0.125 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctG|L1812|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . 0.0435 . . . . . . . . 3.200e-05 . . . 0 4.557e-05 8.965e-05 0 0 4.915e-05 0 6.114e-05 0 3.9e-05 9.244e-05 0 0 3.818e-05 0 6.149e-05 synonymous_SNV . synonymous_SNV . . . exonic downstream exonic . . . 0.0026 . . . 0.44 0.27 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs202242743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.702e-05 0.0002 0 0 0 4.49e-05 0.0002 6.5e-05 0 3.231e-05 0 0 0 0 6.669e-05 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs202242743 rs202242743 1 1538 10 1.I 0,0,0 +. 2 96521815 C A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521815 96521815 Chr2(GRCh37):g.96521815C>A 5292 5292 NM_001310154.1:c.5292G>T p.Lys1764Asn p.Lys1764Asn 84 114 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000739 0.000466 0.000527 0.000333 0.000558 0.001414 0.000907 0.000225 0.000189 0.001414 155 9 14 3 8 35 80 5 1 209764 19328 26588 9012 14344 24752 88206 22252 5282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 155 9 14 3 8 35 80 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.992 0.125 K Lys AAG 0.575 N Asn AAT 0.464 1764 12 6 Platypus 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 353.86 0.00 Tolerated 0.19 3.II 216 PASS . . . . . . . . . . . . ANKRD36C:uc002suz.1:exon31:c.G1275T:p.K425N ANKRD36C:NM_001310154:exon84:c.G5292T:p.K1764N . . 0.20238096 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.237 . @ . . . . . 1 0.305 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K1764N|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -0.6786 -0.643 -0.679 c . . . . . 4.407e-03 . . . 0.0026 0.0052 0.0096 0.0051 0.0107 0.0048 0.0029 0.0054 0.0032 0.0055 0.0095 0.0047 0.0048 0.0059 0.0032 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.183 @ . . . 0.44 0.19 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.017 0.001 . . 37 . 0.097 . . 0.356 . . . . 0.202 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.245 . . 0.270 . . . . . . 0 0.312 . . . . . 0.091 . 0.452 . HET 0.13 rs113267951 . . . . . . . . . . . . 4.0192 . . I.87 0.899 . 0.230000 Q5JPF3 . . . . . 0.258 . . . 0.0008 0.0008 0.0005 0.0001 0.0006 0.0003 0.0009 0.0002 0.0014 0 0.0005 0.0012 0.0072 0 0 0.0009 0 . . 0.609 . 0.308 0.308000 . . 0.230000 . . 1.0E-216 1.000 0.715 . 0.233 0.804 . 0.317 . 0.277 0.308 -0.122 . . . rs75433754 rs113267951 1 1538 10 1/0 0,243,255 +rs113949773 2 96521928 C T - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96521928 96521928 Chr2(GRCh37):g.96521928C>T 5179 5179 NM_001310154.1:c.5179G>A p.Val1727Ile p.Val1727Ile 84 1 3' 88.2848 9.57438 0.983397 8.09631 84.3739 8.41276 0.973137 7.03174 -0.0586857 rs113949773 yes no Frequency 1 C 0.000000 0 0.000805 0.001112 0.000537 0.000142 0.000611 0.000955 0.001018 0.000474 0.000584 0.001112 114 9 10 1 6 18 60 8 2 141678 8096 18636 7030 9826 18842 58952 16872 3424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 114 9 10 1 6 18 60 8 2 0 0 0 0 0 0 0 0 0 RF 78 Exomes transition G A G>A 0.992 0.125 V Val GTT 0.178 I Ile ATT 0.356 1727 12 5 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.54 3.II 239 PASS . . . . . . . . . . . . ANKRD36C:uc002suz.1:exon31:c.G1162A:p.V388I ANKRD36C:NM_001310154:exon84:c.G5179A:p.V1727I . . 0.27419356 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.082 . @ . . . . . 1 0.048 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V1727I|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.84) . . . . . . . -1.1059 -1.077 -1.106 c . . . . . 7.784e-04 . . . 0.0011 0.0013 0.0037 0.0034 0.0019 0.0009 0 0.0010 0.0015 0.0022 0.0041 0.0032 0.0067 0.0019 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.225 . . exonic exonic exonic . . 0.127 @ . . . 0.32 0.18 182 ENSG00000174501 ANKRD36C ANKRD36C . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.130 . . 0.338 . . . . 0.215 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.174 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.272 . . . . . 0.330 . 0.159 . HET 0.14 rs113949773 . . . . . . . . . . . . VIII.43 . . I.87 -0.142 . 0.360000 Q5JPF3 0.0001 0.036 . . . 0.234 . . . 0.0011 0.0008 0.0005 0.0001 0.0006 0.0005 0.0010 0.0006 0.0010 . . . . . . . . . . 0.609 . -0.049 -0.049000 . . 0.360000 . . 1.0E-239 0.873 0.306 . 0.100 0.105 . 0.111 . 0.019 -0.049 -0.512 . . . rs75682686 rs113949773 1 1538 10 1/0 0,255,255 +rs201917928 2 96521933 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution splice site GRCh37 96521933 96521933 Chr2(GRCh37):g.96521933G>A 5179-5 5179-5 NM_001310154.1:c.5179-5C>T p.? p.? 84 83 -5 3' 88.2848 9.57438 0.983397 8.09631 91.8304 10.827 0.988016 7.97177 0.0585634 Cryptic Acceptor Weakly Activated 96521928 9.57438 0.983397 88.2848 10.827 0.988016 91.8304 rs201917928 yes no Frequency 1 G 0.000000 0 0.000207 0.000380 0.000109 0.000000 0.000000 0.000373 0.000294 0.000000 0.000000 0.000380 29 3 2 0 0 7 17 0 0 139774 7902 18380 7002 9562 18778 57836 16930 3384 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 3 2 0 0 7 17 0 0 0 0 0 0 0 0 0 0 0 RF 77 Exomes transition C T C>T 0.929 0.286 236 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . 0.2122 . . . . . . . . 4.001e-04 . . . 0.0008 0.0005 0.0023 0.0006 0 0.0002 0 0.0004 0.0010 0.0012 0.0027 0.0007 0.0041 0.0010 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.07 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201917928 . . . . . . . . . . . . . . . . . . . . 0.0001 0.066 . . . . . . . 0.0004 0.0002 0.0001 0 0 0 0.0003 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs79762068 rs201917928 1 1538 10 1/0 0,255,255 +rs140948329 2 96521944 C A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96521944 96521944 Chr2(GRCh37):g.96521944C>A 5179-16 5179-16 NM_001310154.1:c.5179-16G>T p.? p.? 84 83 -16 3' 88.2848 9.57438 0.983397 8.09631 88.2848 10.1142 0.990715 9.02839 0.0212747 rs140948329 no no 0 C 0.000000 0 transversion G T G>T 0.008 -1.570 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.4765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.05 182 ENSG00000174501 ANKRD36C ANKRD36C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140948329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs76238768 rs140948329 1 1538 10 1/0 0,255,255 +rs369682533 2 96589290 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96589290 96589290 Chr2(GRCh37):g.96589290G>A 2096 2096 NM_001310154.1:c.2096C>T p.Ala699Val p.Ala699Val 32 26 3' 82.4972 7.598 0.901191 6.03876 82.4972 7.598 0.901191 5.73918 0 Cryptic Acceptor Strongly Activated 96589278 2.60162 0.241784 73.4467 III.75 0.385193 76.7613 rs369682533 no no 0 0.000000 0 transition C T C>T 0.004 -1.005 A Ala GCT 0.263 V Val GTT 0.178 699 12 2 Chimp 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.66 III.45 208 PASS . . . . . . . . . . . ENSG00000174501:ENST00000456556:exon32:c.C2096T:p.A699V . ANKRD36C:NM_001310154:exon32:c.C2096T:p.A699V . . 0.18181819 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.024 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A699V|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.32) . . . . . . . -1.3111 -1.531 -1.311 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.781 . . exonic intergenic exonic . . 0.081 @ . . . . . . ENSG00000174501 . ANKRD36C . dist\x3d16043\x3bdist\x3d87009 . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.094 0.004 . . 37 . 0.455 . . 0.354 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.049 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.116 . 0.024 . HET 1 rs369682533 . . . . . . . . . . . . IV.68 . ENST00000456556 0.767 -1.53 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -1.082 -1.082000 . . 1.000000 . . 9.999999999999999E-209 0.001 0.137 . 0.043 0.002 . 0.106 . 0.047 -1.082 -1.242 . . . rs369682533 rs369682533 1 1538 10 1/0 0,255,255 +rs796635984 2 96605668 A G - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96605668 96605668 Chr2(GRCh37):g.96605668A>G 1532-905 1532-905 NM_001310154.1:c.1532-905T>C p.? p.? 21 20 -905 3' 84.9413 9.04641 0.97376 4.43853 84.9413 9.04641 0.97376 4.43853 0 rs796635984 no no 0 0.000000 0 transition T C T>C 0.012 0.528 251 PASS . . . . . . . . . . . . . . . . 0.32 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.2455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.45 0.32 182 ENSG00000174501 . ANKRD36C . dist\x3d32421\x3bdist\x3d70631 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . rs1919664 rs1919664 . . 1 1538 10 1/0 0,255,255 +rs200035163 2 96610811 G A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution intron GRCh37 96610811 96610811 Chr2(GRCh37):g.96610811G>A 1423+51 1423+51 NM_001310154.1:c.1423+51C>T p.? p.? 18 18 51 5' 72.339 5.32219 0.683264 0 72.339 5.32219 0.683264 0 0 rs200035163 no no 0 0.000000 0 0.004841 0.000910 0.007009 0.009346 0.000000 0.000000 0.006804 0.007104 0.007463 0.009346 91 5 3 2 0 0 64 13 4 18798 5496 428 214 888 0 9406 1830 536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 91 5 3 2 0 0 64 13 4 0 0 0 0 0 0 0 0 0 RF 123 Genomes transition C T C>T 0.000 -1.489 254 PASS . . . . . . . . . . . . . . . . 0.22580644 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||ANKRD36C|mRNA|CODING|NM_001310154|) . . . . . . . -0.7660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.47 0.19 182 ENSG00000174501 . ANKRD36C . dist\x3d37564\x3bdist\x3d65488 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200035163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0048 0.0070 0.0093 0 0.0071 0.0068 0.0075 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs200035163 rs200035163 1 1538 10 1/0 0,255,255 +rs78179792 2 96616504 C A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96616504 96616504 Chr2(GRCh37):g.96616504C>A 1288 1288 NM_001310154.1:c.1288G>T p.Val430Phe p.Val430Phe 16 -8 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 rs78179792 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87748 3676 14598 5998 5654 14906 36290 4206 2420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G T G>T 0.000 -0.360 V Val GTT 0.178 F Phe TTT 0.454 430 12 2 Chimp 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Tolerated 0.39 IV.32 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon16:c.G1288T:p.V430F . . 0.6888889 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.226 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ttt|V430F|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.16) . . . . . . . -1.2184 -1.386 -1.218 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.189 . . exonic intergenic exonic . . 0.081 @ . . . 0.46 0.32 182 ENSG00000174501 . ANKRD36C . dist\x3d43257\x3bdist\x3d59795 . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.077 . . 0.356 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.051 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.038 . 0.137 . HET 0.21 rs78179792 . . . . . . . . . . . . II.58 . ENST00000456556 I.37 -1.55 . 0.470000 . . . . . . 0.002 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.090 . -0.428 -0.428000 . . 0.470000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.054 . 0.004 -0.428 -1.577 . . . rs78179792 rs78179792 1 1538 10 1/0 0,255,255 +rs79025720 2 96616506 G C - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96616506 96616506 Chr2(GRCh37):g.96616506G>C 1286 1286 NM_001310154.1:c.1286C>G p.Ala429Gly p.Ala429Gly 16 -10 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 rs79025720 no no 0 0.000000 0 transversion C G C>G 0.000 -0.279 A Ala GCT 0.263 G Gly GGT 0.162 429 12 2 Chimp 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.21 IV.32 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon16:c.C1286G:p.A429G . . 0.6976744 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.183 . @ . . . . . 1 0.085 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A429G|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.16) . . . . . . . -1.1262 -1.289 -1.126 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.204 . . exonic intergenic exonic . . 0.107 @ . . . 0.47 0.3 182 ENSG00000174501 . ANKRD36C . dist\x3d43259\x3bdist\x3d59793 . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.101 . . 0.387 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.277 . 0.089 . HET 0.11 rs79025720 . . . . . . . . . . . . VII.05 . ENST00000456556 I.37 -0.691 . 0.370000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.090 . -0.233 -0.233000 . . 0.370000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.061 . 0.002 -0.233 -1.574 . . . rs79025720 rs79025720 1 1538 10 1/0 0,255,255 +rs79603357 2 96616507 C A - ANKRD36C 32946 Ankyrin repeat domain 36C NM_001310154.1 -1 8072 6435 NP_001297083.1 substitution missense exon GRCh37 96616507 96616507 Chr2(GRCh37):g.96616507C>A 1285 1285 NM_001310154.1:c.1285G>T p.Ala429Ser p.Ala429Ser 16 -11 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 Cryptic Acceptor Strongly Activated 96616509 3.78633 0.071414 76.2214 4.73916 0.132652 76.2214 rs79603357 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30970 8734 838 302 1620 0 15004 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 142 Genomes transversion G T G>T 0.000 0.044 A Ala GCT 0.263 S Ser TCT 0.185 429 12 2 Chimp 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Tolerated 0.21 IV.32 255 PASS . . . . . . . . . . . . . ANKRD36C:NM_001310154:exon16:c.G1285T:p.A429S . . 0.71428573 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.257 . @ . . . . . 1 0.185 . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Tct|A429S|ANKRD36C|mRNA|CODING|NM_001310154|NM_001310154.ex.16) . . . . . . . -1.1822 -1.321 -1.182 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.155 . . exonic intergenic exonic . . 0.142 @ . . . 0.46 0.31 182 ENSG00000174501 . ANKRD36C . dist\x3d43260\x3bdist\x3d59792 . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.062 . . 0.408 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.104 . 0.031 . HET 0.1 rs79603357 . . . . . . . . . . . . IV.45 . ENST00000456556 I.37 0.158 . 0.710000 . . . . . . 0.002 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.090 . 0.042 0.042000 . . 0.710000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.105 . 0.032 0.042 -1.577 . . . rs79603357 rs79603357 1 1538 10 1/0 0,255,255 +rs2692901 2 96691956 T C - GPAT2 27168 Glycerol-3-phosphate acyltransferase 2, mitochondrial NM_001321525.1 -1 3018 2406 NP_001308454.1 substitution missense exon GRCh37 96691956 96691956 Chr2(GRCh37):g.96691956T>C 1130 1130 NM_001321525.1:c.1130A>G p.His377Arg p.His377Arg 11 616431 -26 5' 84.8076 9.98517 0.962475 8.68341 84.8076 9.98517 0.962475 9.05367 0 Cryptic Donor Strongly Activated 96691961 0.0263 57.9615 6.64273 0.537187 70.113 rs2692901 yes no Frequency 1 0.000000 0 0.000386 0.000799 0.000496 0.000000 0.000532 0.000098 0.000408 0.000078 0.000625 0.000799 106 19 17 0 10 3 51 2 4 274486 23790 34268 10046 18794 30610 124866 25712 6400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 19 17 0 10 3 51 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.953 1.093 H His CAC 0.587 R Arg CGC 0.190 377 12 7 C. elegans 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Tolerated 0.11 II.50 203 PASS . . . . . . . . . . . . . GPAT2:NM_207328:exon11:c.A1130G:p.H377R . . 0.16666667 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.228 . @ . . . . . 1 0.200 . . 96.0 . . . . . . . . . . -0.3775 -0.300 -0.378 c . . . . . 3.194e-05 . . . 0 3.579e-05 0 0 0 7.695e-05 0 0 0 1.994e-05 0 0 0 3.831e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.390 @ . . . 0.34 0.35 182 ENSG00000186281 GPAT2 GPAT2 . . . 0.002 0.091 . . . . . . . Uncertain_significance . 0 . 0.366 . . . . D 0.503 0.027 . . 37 . 0.355 . . 0.171 . . . 0.741 0.374 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.609 . . 0 0 0 0 0 0 . 0.439 . . 0.425 . . . . . . 1 0.524 . . . . . 0.267 . 0.530 . HET 0.02 rs200637442 . . . . . . . . . . . . VII.12 . . IV.68 3.V . 0.510000 . . . . . . 0.612 . . 3.V 0.0005 0.0003 0.0005 0 0.0005 0 0.0003 0.0002 9.801e-05 0.0014 0.0012 0 0 0.0012 0.0006 0.0011 0.0031 . . 0.246 . 0.639 0.639000 . . 0.510000 . . 1.0E-203 0.998 0.411 . 0.344 0.204 . 0.441 . 0.155 0.639 0.966 . rs2692901 rs2692901 rs2692901 rs200637442 1 1538 10 1/0 0,234,255 +rs139806872 2 97818261 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97818261 97818261 Chr2(GRCh37):g.97818261G>T 1183 1183 NM_001354587.1:c.1183G>T p.Ala395Ser p.Ala395Ser 14 -11 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 Cryptic Acceptor Strongly Activated 97818259 3.78633 0.071414 76.2214 4.73916 0.132652 76.2214 rs139806872 no no 0 0.000000 0 transversion G T G>T 0.000 -0.360 A Ala GCT 0.263 S Ser TCT 0.185 395 12 2 Chimp 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Tolerated 0.75 II.78 238 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon14:c.G1183T:p.A395S . . 0.27272728 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.161 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Tct|A395S|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.14) . . . . . . . -1.8154 -1.872 -1.815 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.155 . . exonic exonic exonic . . 0.081 @ . . . 0.31 0.29 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.066 . . 0.380 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.087 . . 0 0 0 0 0 0 . 0.119 . . 0.040 . . . . . . 0 0.486 . . . . . 0.040 . 0.178 . HET . rs139806872 . . . . . . . . . . . . II.16 . . I.34 -1.52 . 0.380000 A6QL64 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.395 -0.395000 . . 0.380000 . . 1.0E-238 0.000 0.063 . 0.016 0.002 . 0.015 . 0.005 -0.395 -1.584 . . . rs139806872 rs139806872 1 1538 10 1/0 0,255,255 +rs147852915 2 97818262 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97818262 97818262 Chr2(GRCh37):g.97818262C>G 1184 1184 NM_001354587.1:c.1184C>G p.Ala395Gly p.Ala395Gly 14 -10 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 rs147852915 no no 0 0.000000 0 transversion C G C>G 0.000 -0.763 A Ala GCT 0.263 G Gly GGT 0.162 395 12 2 Chimp 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.39 II.78 246 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon14:c.C1184G:p.A395G . . 0.29787233 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.146 . @ . . . . . 1 0.173 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A395G|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.14) . . . . . . . -1.8991 -1.969 -1.899 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.204 . . exonic exonic exonic . . 0.066 @ . . . 0.37 0.27 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.050 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.089 . . 0.290 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.100 . . 0 0 0 0 0 0 . 0.176 . . 0.063 . . . . . . 0 0.477 . . . . . 0.109 . 0.355 . HET . rs147852915 . . . . . . . . . . . . IV.71 . . I.34 -2.2 . 0.190000 A6QL64 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.735 -0.735000 . . 0.190000 . . 1.0E-246 0.000 0.063 . 0.016 0.001 . 0.018 . 0.000 -0.735 -1.598 . . . rs147852915 rs147852915 1 1538 10 1/0 0,255,255 +rs150243949 2 97818264 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97818264 97818264 Chr2(GRCh37):g.97818264G>T 1186 1186 NM_001354587.1:c.1186G>T p.Val396Phe p.Val396Phe 14 -8 5' 84.4974 IX.89 0.937219 0 84.4974 IX.89 0.937219 0 0 rs150243949 no no 0 0.000000 0 transversion G T G>T 0.000 -4.395 V Val GTT 0.178 F Phe TTT 0.454 396 12 2 Chimp 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Tolerated 0.6 II.78 244 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon14:c.G1186T:p.V396F . . 0.29166666 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.038 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ttt|V396F|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.14) . . . . . . . -2.4226 -2.521 -2.423 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.189 . . exonic exonic exonic . . 0.057 @ . . . 0.35 0.32 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.989 0.318 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.000 0.000 . . 37 . 0.092 . . 0.201 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.181 . . 0.063 . . . . . . 0 0.599 . . . . . 0.121 . 0.363 . HET . rs150243949 . . . . . . . . . . . . IV.41 . . I.34 -2.68 . 0.160000 A6QL64 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -4.686 -4.686000 . . 0.160000 . . 1.0000000000000001E-244 0.000 0.063 . 0.016 0.001 . 0.005 . 0.000 -4.686 -1.584 . . . rs150243949 rs150243949 1 1538 10 1/0 0,255,255 +rs4528800 2 97824438 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97824438 97824438 Chr2(GRCh37):g.97824438C>G 1389+46 1389+46 NM_001354587.1:c.1389+46C>G p.? p.? 17 17 46 5' 87.5418 8.88433 0.990432 2.16721 87.5418 8.88433 0.990432 1.88916 0 rs4528800 no no 0 0.000000 0 0.003485 0.001650 0.001408 0.003448 0.003396 0.000000 0.001343 0.019090 0.004854 0.019090 92 12 1 1 4 0 18 52 4 26402 7272 710 290 1178 0 13404 2724 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 92 12 1 1 4 0 18 52 4 0 0 0 0 0 0 0 0 0 RF 51 Genomes transversion C G C>G 0.000 -0.360 244 PASS . . . . . . . . . . . . . . . . 0.2962963 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.2322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.26 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4528800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0035 0.0014 0.0034 0.0034 0.0191 0.0013 0.0049 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs4528800 rs4528800 rs4528800 rs4528800 1 1538 10 1/0 0,255,255 +. 2 97829004 AAAATAA A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 deletion intron GRCh37 97829009 97829014 Chr2(GRCh37):g.97829009_97829014del 1430-1011 1430-1006 NM_001354587.1:c.1430-1011_1430-1006del p.? p.? 19 18 -1006 3' 84.9413 9.04641 0.97376 4.43853 84.9413 9.04641 0.97376 4.43853 0 TAAAAA 255 Pass . . . . . . . . . . . . . . . . 0.6136364 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,21 +rs796337761 2 97829120 T C - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97829120 97829120 Chr2(GRCh37):g.97829120T>C 1430-900 1430-900 NM_001354587.1:c.1430-900T>C p.? p.? 19 18 -900 3' 84.9413 9.04641 0.97376 4.43853 84.9413 9.04641 0.97376 4.43853 0 rs796337761 no no 0 0.000000 0 transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.2363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.3 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1919664 rs1919664 . . 1 1538 10 1/0 0,255,255 +rs780021191 2 97845607 G A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97845607 97845607 Chr2(GRCh37):g.97845607G>A 1672 1672 NM_001354587.1:c.1672G>A p.Asp558Asn p.Asp558Asn 24 10 3' 77.1621 6.46018 0.657959 5.58742 77.1621 6.46018 0.570368 5.08707 -0.0443751 Cryptic Donor Strongly Activated 97845604 0.0469053 0.00528 65.7868 3.70058 0.191006 70.1492 rs780021191 yes no Frequency 1 0.000000 0 0.000026 0.000090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000188 0.000160 0.000188 7 2 0 0 0 0 0 4 1 266178 22256 33936 10006 18460 30636 123384 21232 6268 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 0 0 0 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.044 D Asp GAC 0.539 N Asn AAC 0.536 558 12 4 Olive baboon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.14 II.78 253 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon24:c.G1672A:p.D558N . . 0.32352942 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.447 . @ . . . . . 1 0.778 . . 34.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D558N|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.24) . . . . . . . -0.6021 -0.849 -0.602 c . . . . . 5.255e-04 . . . 0.0008 0.0005 0.0003 0.0004 0.0008 0.0004 0 0.0004 0.0009 0.0004 0.0003 0.0003 0.0005 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.760 . . exonic exonic exonic . . 0.147 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.111 0.004 . . 37 . 0.716 . . 0.582 . . . 0.331 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.764 . . 0.832 . . . . . . 0 0.433 . . . . . 0.070 . 0.021 . HET . rs780021191 . . . . . . . . . . . . III.86 . . I.17 0.244 . 0.010000 . . . . . . 0.041 . . . 0 0 0 0 0 0 0 0 0 0.0003 0.0002 0 0 0 0.0013 0 0.0011 . . 0.482 . 0.077 0.077000 . . 0.010000 . . 1.0E-253 0.004 0.165 . 0.043 0.012 . 0.262 . 0.119 0.077 0.697 . . . . . 1 1538 10 1/0 0,255,255 +rs535188727 2 97845609 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97845609 97845609 Chr2(GRCh37):g.97845609C>T 1674 1674 NM_001354587.1:c.1674C>T p.Asp558= p.Asp558Asp 24 12 3' 77.1621 6.46018 0.657959 5.58742 77.1621 6.46018 0.607763 5.52835 -0.0254302 rs535188727 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000289 0.000180 0.000000 0.000000 0.000000 0.000033 0.000057 0.002965 0.000320 0.002965 77 4 0 0 0 1 7 63 2 266098 22256 33920 10000 18452 30632 123332 21248 6258 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000094 0.000000 1 0 0 0 0 0 0 1 0 75 4 0 0 0 1 7 61 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.602 D Asp GAC 0.539 D Asp GAT 0.461 558 251 PASS . . . . . . 0.0002 . . 0.001 . . . ANKRD36:NM_001164315:exon24:c.C1674T:p.D558D . . 0.31428573 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 35.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D558|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.24) . . . . . . . -0.3508 . . . . . . . . 8.329e-04 . . . 0.0009 0.0007 0.0003 0.0004 0.0049 0.0005 0 0.0005 0.0011 0.0008 0.0003 0.0003 0.0045 0.0005 0 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . 6 9.23418e-05 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535188727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0 0.0029 4.584e-05 0 3.265e-05 0.0003 0.0006 0 0 0 0.0035 0.0001 0.0022 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs778558099 2 97845612 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97845612 97845612 Chr2(GRCh37):g.97845612C>G 1677 1677 NM_001354587.1:c.1677C>G p.Asp559Glu p.Asp559Glu 24 15 3' 77.1621 6.46018 0.657959 5.58742 77.1621 6.46018 0.741657 5.72342 0.0424028 rs778558099 yes no Frequency 1 0.000000 0 0.000053 0.000135 0.000029 0.000000 0.000054 0.000000 0.000032 0.000187 0.000160 0.000187 14 3 1 0 1 0 4 4 1 266042 22268 33912 9998 18450 30600 123234 21338 6242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 3 1 0 1 0 4 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.044 D Asp GAC 0.539 E Glu GAG 0.583 559 12 3 Zebrafish 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 II.78 251 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon24:c.C1677G:p.D559E . . 0.31428573 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.015 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D559E|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.24) . . . . . . . -1.7770 -1.765 -1.777 c . . . . . 5.585e-04 . . . 0.0009 0.0005 0.0004 0.0008 0.0008 0.0004 0 0.0004 0.0011 0.0005 0.0004 0.0005 0.0005 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.759 . . exonic exonic exonic . . 0.147 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.076 0.003 . . 37 . 0.367 . . 0.378 . . . 0.038 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.079 . . 0 0 0 0 0 0 . 0.156 . . 0.149 . . . . . . 0 0.010 . . . . . 0.148 . 0.107 . HET . rs778558099 . . . . . . . . . . . . V.92 . . I.17 0.251 . 1.000000 . . . . . . 0.001 . . . 6.973e-05 1.685e-05 3.016e-05 0 5.85e-05 0 9.177e-06 0 0 0.0003 0.0003 0 0 0 0.0013 0.0002 0.0011 . . 0.482 . 0.081 0.081000 . . 1.000000 . . 1.0E-251 0.011 0.184 . 0.016 0.041 . 0.344 . 0.034 0.081 -1.105 . . . . . 1 1538 10 1/0 0,255,255 +rs199729164 2 97845616 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97845616 97845616 Chr2(GRCh37):g.97845616G>T 1681 1681 NM_001354587.1:c.1681G>T p.Asp561Tyr p.Asp561Tyr 24 19 3' 77.1621 6.46018 0.657959 5.58742 77.1621 6.46018 0.635674 5.27267 -0.01129 Cryptic Acceptor Strongly Activated 97845635 4.64854 0.031787 74.0495 6.58433 0.066356 74.0495 rs199729164 yes no Frequency 1 0.000000 0 0.000361 0.000605 0.000424 0.000305 0.000336 0.000338 0.000286 0.000486 0.000493 0.000605 93 13 14 3 6 10 34 10 3 257418 21476 33022 9840 17878 29602 118926 20590 6084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 13 14 3 6 10 34 10 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.016 0.932 D Asp GAT 0.461 Y Tyr TAT 0.438 561 12 5 Chicken -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 353.86 0.00 Deleterious 0.01 II.78 251 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon24:c.G1681T:p.D561Y . . 0.31428573 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.445 . @ . . . . . 1 0.239 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D561Y|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.24) . . . . . . . -0.3751 -0.657 -0.375 c . . . . . 8.019e-04 . . . 0.0011 0.0008 0.0005 0.0013 0.0009 0.0008 0 0.0007 0.0013 0.0007 0.0003 0.0010 0.0005 0.0008 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.756 . . exonic exonic exonic . . 0.199 @ . . . 0.4 0.31 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.766 . . 0.617 . . . 0.424 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.784 . . . . . 0.174 . 0.363 . HET . rs199729164 . . . . . . . . . . . . V.12 . . I.17 I.17 . 0.000000 . . . . . . 0.053 . . . 0.0008 0.0004 0.0004 0.0003 0.0004 0.0003 0.0003 0.0004 0.0003 0.0003 0.0003 0 0 0 0.0016 7.042e-05 0.0011 . . 0.482 . 0.963 0.963000 . . 0.000000 . . 1.0E-251 0.000 0.063 . 0.016 0.130 . 0.158 . 0.038 0.963 0.697 . . . rs199729164 rs199729164 1 1538 10 1/0 0,255,255 +. 2 97851075 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97851075 97851075 Chr2(GRCh37):g.97851075C>T 1962 1962 NM_001354587.1:c.1962C>T p.Ala654= p.Ala654Ala 29 -7 5' 87.3006 8.82915 0.982143 0 87.3006 8.82915 0.971435 0 -0.00363423 rs1003095623 no no 0 0.000000 0 transition C T C>T 0.000 -0.440 A Ala GCC 0.403 A Ala GCT 0.263 654 216 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon29:c.C1962T:p.A654A . . 0.20454545 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A654|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.29) . . . . . . . -0.5401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 97851076 T G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97851076 97851076 Chr2(GRCh37):g.97851076T>G 1963 1963 NM_001354587.1:c.1963T>G p.Ser655Ala p.Ser655Ala 29 -6 5' 87.3006 8.82915 0.982143 0 87.3006 8.82915 0.989114 0.602643 0.00236591 rs1015779697 no no 0 0.000000 0 transversion T G T>G 0.008 -0.037 S Ser TCA 0.148 A Ala GCA 0.226 655 12 2 Chimp 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.57 II.82 206 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon29:c.T1963G:p.S655A . . 0.17777778 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.063 . @ . . . . . 1 0.018 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Gca|S655A|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.29) . . . . . . . -1.5340 -1.613 -1.534 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.165 . . exonic exonic exonic . . 0.123 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.090 . . 0.383 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.121 . . 0 0 0 0 0 0 . 0.315 . . 0.377 . . . . . . 0 0.408 . . . . . 0.087 . 0.255 . HET . . . . . . . . . . . . . . III.23 . . 1.VI -0.262 . 0.250000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -0.080 -0.080000 . . 0.250000 . . 1.0E-206 0.000 0.063 . 0.016 0.002 . 0.083 . 0.001 -0.080 0.643 . . . . . 1 1538 10 1/0 0,255,255 +. 2 97851077 C A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution stop gain exon GRCh37 97851077 97851077 Chr2(GRCh37):g.97851077C>A 1964 1964 NM_001354587.1:c.1964C>A p.Ser655* p.Ser655* 29 -5 5' 87.3006 8.82915 0.982143 0 87.3006 8.82915 0.985535 0 0.00115122 rs961387199 no no 0 0.000000 0 transversion C A C>A 0.028 -0.602 S Ser TCA 0.148 * * TAA 0.277 655 213 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon29:c.C1964A:p.S655X . . 0.19565217 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.355 . @ . . . . . 0 0.083 . . 46.0 . . STOP_GAINED(HIGH|NONSENSE|tCa/tAa|S655*|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.29) . . . . . . . -0.8054 -1.240 -0.805 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.067 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.023 . . . HET . . . . . . . . . . . . . . I.31 . . 1.VI -2.12 . 0.310000 . . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -0.664 -0.664000 . . 0.310000 . . 1.0E-213 0.001 0.137 . 0.016 0.001 . 0.122 . 0.000 -0.664 -1.095 . . . . . 1 1538 10 1/0 0,255,255 +. 2 97851078 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97851078 97851078 Chr2(GRCh37):g.97851078A>G 1965 1965 NM_001354587.1:c.1965A>G p.Ser655= p.Ser655Ser 29 -4 5' 87.3006 8.82915 0.982143 0 87.3006 8.82915 0.964488 0 -0.005992 rs974036808 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244314 15214 33272 9806 17110 30634 110634 22230 5414 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 69 Exomes transition A G A>G 0.118 -0.037 S Ser TCA 0.148 S Ser TCG 0.056 655 213 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon29:c.A1965G:p.S655S . . 0.19565217 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S655|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.29) . . . . . . . -0.3362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs75833559 2 97851200 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97851200 97851200 Chr2(GRCh37):g.97851200C>T 1994 1994 NM_001354587.1:c.1994C>T p.Ala665Val p.Ala665Val 30 26 3' 82.4972 7.598 0.901191 6.15707 82.4972 7.598 0.901191 5.85749 0 Cryptic Acceptor Strongly Activated 97851212 2.60162 0.241784 73.4467 III.75 0.385193 76.7613 rs75833559 yes no Frequency 1 0.000000 0 0.000015 0.000054 0.000000 0.000000 0.000000 0.000033 0.000017 0.000000 0.000000 0.000054 4 1 0 0 0 1 2 0 0 260410 18568 33462 10024 17582 30382 119718 24716 5958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 -0.521 A Ala GCT 0.263 V Val GTT 0.178 665 12 2 Chimp 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.39 II.82 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon30:c.C1994T:p.A665V . . 0.38356164 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.002 . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A665V|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.30) . . . . . . . -1.9273 -1.945 -1.927 c . . . . . 8.025e-06 . . . 0 1.374e-05 0 0 0 0 0 7.188e-05 0 1.185e-05 0 0 0 0 0 7.229e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.173 . . exonic exonic exonic . . 0.073 @ . . . 0.33 0.24 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.042 . . 0.390 . . . 0.041 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.088 . . 0 0 0 0 0 0 . 0.158 . . 0.179 . . . . . . 0 0.010 . . . . . 0.106 . 0.024 . HET . rs75833559 . . . . . . . . . . . . IV.98 . . 1.II -1.87 . 1.000000 . . . . . . 0.002 . . . 0 4.129e-06 0 0 0 0 0 0 3.291e-05 0.0003 0.0002 0 0 0 0 0.0002 0 . . 0.465 . -0.517 -0.517000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.105 . 0.042 -0.517 -1.297 . . . rs75833559 rs75833559 1 1538 10 1/0 0,255,255 +. 2 97910878 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97910878 97910878 Chr2(GRCh37):g.97910878G>T 4492-16 4492-16 NM_001354587.1:c.4492-16G>T p.? p.? 71 70 -16 3' 88.2848 9.57438 0.983397 8.26876 88.2848 10.1142 0.990715 9.20084 0.0212747 transversion G T G>T 0.024 -0.844 220 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.5093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.31 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201193319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs76238768 rs201346404 1 1538 10 1/0 0,255,255 +. 2 97910889 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution splice site GRCh37 97910889 97910889 Chr2(GRCh37):g.97910889C>T 4492-5 4492-5 NM_001354587.1:c.4492-5C>T p.? p.? 71 70 -5 3' 88.2848 9.57438 0.983397 8.26876 91.8304 10.827 0.988016 8.14421 0.0585634 Cryptic Acceptor Weakly Activated 97910894 9.57438 0.983397 88.2848 10.827 0.988016 91.8304 transition C T C>T 1.000 1.739 243 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . 0.2912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.35 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200446433 . . . . . . . . . . . . . . . . . . . . 0.0001 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs79762068 rs79762068 1 1538 10 1/0 0,255,255 +. 2 97910894 G A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97910894 97910894 Chr2(GRCh37):g.97910894G>A 4492 4492 NM_001354587.1:c.4492G>A p.Val1498Ile p.Val1498Ile 71 1 3' 88.2848 9.57438 0.983397 8.26876 84.3739 8.41276 0.973137 7.20418 -0.0586857 transition G A G>A 0.874 -0.360 V Val GTT 0.178 I Ile ATT 0.356 1498 12 5 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.95 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G4570A:p.V1524I . . 0.36764705 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.059 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V1524I|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.1647 -1.196 -1.165 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.225 . . exonic exonic exonic . . 0.110 @ . . . 0.37 0.29 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.135 . . 0.165 . . . 0.065 0.203 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.176 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.284 . . . . . 0.110 . 0.062 . HET 0.16 rs202184678 . . . . . . . . . . . . IV.04 . . 1.IV -0.607 . . . 0.0001 0.018 . . . 0.232 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.224 -0.224000 . . . . . 1.0E-255 0.965 0.337 . 0.117 0.169 . 0.174 . 0.027 -0.224 -0.467 . . . rs75682686 rs75682686 1 1538 10 1/0 0,255,255 +rs200057888 2 97910937 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97910937 97910937 Chr2(GRCh37):g.97910937G>T 4535 4535 NM_001354587.1:c.4535G>T p.Arg1512Leu p.Arg1512Leu 71 44 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 7.58182 0 rs200057888 no no 0 G 0.000000 0 transversion G T G>T 0.205 -0.360 R Arg CGC 0.190 L Leu CTC 0.197 1512 12 3 Zebrafish -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 353.86 0.00 Tolerated 0.25 II.78 217 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G4613T:p.R1538L . . 0.2038835 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.010 . . 103.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R1538L|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.3494 -1.450 -1.349 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.291 . . exonic exonic exonic . . 0.055 @ . . . 0.4 0.32 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.131 . . 0.266 . . . 0.238 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.420 . . 0.365 . . . . . . 0 0.051 . . . . . 0.186 . 0.210 . HET 0.22 rs200057888 . . . . . . . . . . . . 6.0029 . . 1.IV -2.79 . 0.660000 . . . . . . 0.119 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.383 -0.383000 . . 0.660000 . . 1.0E-217 0.778 0.292 . 0.108 0.027 . 0.396 . 0.023 -0.383 -0.919 . . rs71258079 rs75882290 rs75882290 1 1538 10 1/0 0,234,255 +rs201852435 2 97910960 A T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97910960 97910960 Chr2(GRCh37):g.97910960A>T 4558 4558 NM_001354587.1:c.4558A>T p.Arg1520Trp p.Arg1520Trp 71 67 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.59947 0 Cryptic Acceptor Strongly Activated 97910968 0.003258 1.56539 0.041127 78.0176 rs201852435 no no 0 A 0.000000 0 transversion A T A>T 0.937 0.528 R Arg AGG 0.207 W Trp TGG 1.000 1520 12 2 Chimp -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 257.76 46.61 Tolerated 0.19 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A4636T:p.R1546W . . 0.39655173 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.690 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R1546W|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.3827 -0.569 -0.383 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.140 . . exonic exonic exonic . . 0.213 @ . . . 0.46 0.34 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.247 . . 0.078 . . . 0.583 0.220 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.516 . . 0 0 0 0 0 0 . 0.764 . . 0.797 . . . . . . 0 0.531 . . . . . 0.062 . 0.324 . HET 0.02 rs201852435 . . . . . . . . . . . . III.52 . . 1.IV 1.IV . 0.020000 . . . . . . 0.102 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.893 0.893000 . . 0.020000 . . 1.0E-255 0.708 0.285 . 0.213 0.960 . 0.334 . 0.286 0.893 0.804 . . rs72931734 rs72931734 rs72931734 1 1538 10 1/0 0,243,255 +rs200637231 2 97910988 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97910988 97910988 Chr2(GRCh37):g.97910988A>G 4586 4586 NM_001354587.1:c.4586A>G p.Lys1529Arg p.Lys1529Arg 71 95 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs200637231 no no 0 A 0.000000 0 transition A G A>G 0.189 0.044 K Lys AAA 0.425 R Arg AGA 0.205 1529 12 6 Chicken 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 258.92 0.00 Tolerated 0.6 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A4664G:p.K1555R . . 0.4047619 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.101 . @ . . . . . 1 0.422 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K1555R|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.3954 -0.521 -0.395 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.179 . . exonic exonic exonic . . 0.143 @ . . . 0.43 0.34 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.274 . . 0.113 . . . 0.421 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.532 . . 0 0 0 0 0 0 . 0.670 . . 0.736 . . . . . . 0 0.413 . . . . . 0.094 . 0.239 . HET 0.11 rs200637231 . . . . . . . . . . . . 4.107 . . 1.IV 0.173 . 0.060000 . . . . . . 0.121 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.042 0.042000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.176 0.784 . 0.308 . 0.102 0.042 -0.214 . . . rs78091509 rs112192400 1 1538 10 1/0 0,241,255 +rs200935570 2 97911007 G T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911007 97911007 Chr2(GRCh37):g.97911007G>T 4605 4605 NM_001354587.1:c.4605G>T p.Lys1535Asn p.Lys1535Asn 71 114 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs200935570 no no 0 G 0.000000 0 transversion G T G>T 0.992 -0.037 K Lys AAG 0.575 N Asn AAT 0.464 1535 12 7 Platypus 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 244.67 0.00 Tolerated 0.38 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G4683T:p.K1561N . . 0.46268657 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.218 . @ . . . . . 1 0.368 . . 134.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K1561N|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.7319 -0.706 -0.732 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.153 @ . . . 0.44 0.31 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.024 0.002 . . 37 . 0.084 . . 0.248 . . . 0.188 0.198 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.563 . . 0 0 0 0 0 0 . 0.272 . . 0.190 . . . . . . 0 0.330 . . . . . 0.071 . 0.185 . HET 0.17 rs200935570 . . . . . . . . . . . . III.71 . . 1.IV 0.374 . 0.100000 . . . . . . 0.204 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.112 0.112000 . . 0.100000 . . 1.0E-255 0.890 0.310 . 0.285 0.719 . 0.099 . 0.281 0.112 -0.287 . . . rs75433754 rs111605455 1 1538 10 1/0 0,243,255 +rs200630019 2 97911045 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911045 97911045 Chr2(GRCh37):g.97911045A>G 4643 4643 NM_001354587.1:c.4643A>G p.His1548Arg p.His1548Arg 71 152 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs200630019 no no 0 A 0.000000 0 transition A G A>G 0.874 -0.440 H His CAT 0.413 R Arg CGT 0.082 1548 12 3 Olive baboon 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 264.55 0.00 Tolerated 0.55 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A4721G:p.H1574R . . 0.44025156 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.026 . . 159.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H1574R|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.5617 -1.569 -1.562 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.131 . . exonic exonic exonic . . 0.124 @ . . . 0.43 0.32 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.070 . . 0.280 . . . 0.170 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.372 . . 0 0 0 0 0 0 . 0.188 . . 0.198 . . . . . . 0 0.586 . . . . . 0.045 . 0.172 . HET 0.11 rs200630019 . . . . . . . . . . . . II.61 . . 1.IV -0.223 . 0.000000 . . . . . . 0.233 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.392 -0.392000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.043 0.173 . 0.231 . 0.025 -0.392 -0.066 . rs62156257 rs62156257 rs62156257 rs201350244 1 1538 10 1/0 0,235,255 +rs202131502 2 97911096 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911096 97911096 Chr2(GRCh37):g.97911096C>T 4694 4694 NM_001354587.1:c.4694C>T p.Thr1565Met p.Thr1565Met 71 203 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs202131502 no no 0 C 0.000000 0 0.000022 0.000060 0.000000 0.000000 0.000000 0.000046 0.000027 0.000000 0.000000 0.000060 4 1 0 0 0 1 2 0 0 179466 16590 23494 8412 11776 21568 72854 20026 4746 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.378 1.739 T Thr ACG 0.116 M Met ATG 1.000 1565 12 9 Zebrafish -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0 II.85 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C4772T:p.T1591M . . 0.36898395 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.210 . @ . . . . . 1 0.743 . . 187.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1591M|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.0160 -0.273 -0.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.250 . . exonic exonic exonic . . 0.213 @ . . . 0.45 0.33 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.444 . . 0.468 . . . 0.583 0.198 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.808 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 0 0.465 . . . . . 0.336 . 0.535 . HET 0.03 rs202131502 . . . . . . . . . . . . VIII.25 0.028777 . 1.IV 1.IV . 0.010000 . . . . . . 0.275 . . . 0.0001 1.979e-05 0 0 0 0 1.682e-05 0 4.637e-05 0 3.586e-05 0 0 0 0 7.467e-05 0 . . 0.609 . 1.081 1.081000 . . 0.010000 . . 1.0E-255 0.973 0.343 . 0.083 0.348 . 0.438 . 0.055 1.081 0.666 . rs62156258 rs62156258 rs62156258 rs202130501 1 1538 10 1/0 0,224,255 +rs200990159 2 97911109 T C - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97911109 97911109 Chr2(GRCh37):g.97911109T>C 4707 4707 NM_001354587.1:c.4707T>C p.Tyr1569= p.Tyr1569Tyr 71 216 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs200990159 no no 0 T 0.000000 0 0.002500 0.000520 0.000454 0.000234 0.000000 0.004612 0.002941 0.005259 0.002069 0.005259 461 9 11 2 0 102 220 107 10 184402 17324 24248 8564 12178 22114 74794 20346 4834 0.000076 0.000000 0.000000 0.000000 0.000000 0.000452 0.000053 0.000000 0.000000 7 0 0 0 0 5 2 0 0 447 9 11 2 0 92 216 107 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.323 1.416 Y Tyr TAT 0.438 Y Tyr TAC 0.562 1569 240 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.T4785C:p.Y1595Y . . 0.27227724 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 202.0 . . SYNONYMOUS_CODING(LOW|SILENT|taT/taC|Y1595|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . 0.1422 . . . . . . . . 1.178e-03 . . . 0 0.0040 0.0047 0 0 0.0024 0.0055 0.0070 0 0.0044 0.0064 0 0.0048 0.0013 0.0062 0.0070 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.36 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200990159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0025 0.0005 0.0002 0 0.0054 0.0026 0.0025 0.0046 0.0004 0.0027 0 0 0 0.0044 0.0043 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs79584453 rs200455439 1 1538 10 1/0 0,212,255 +rs148854709 2 97911151 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97911151 97911151 Chr2(GRCh37):g.97911151C>G 4749 4749 NM_001354587.1:c.4749C>G p.Leu1583= p.Leu1583Leu 71 258 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs148854709 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 235096 14688 31436 9578 16300 28396 107542 21904 5252 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 52 Exomes transversion C G C>G 0.874 0.044 L Leu CTC 0.197 L Leu CTG 0.404 1583 227 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C4827G:p.L1609L . . 0.23394495 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 218.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctG|L1609|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.2102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.34 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148854709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs62156259 rs62156259 rs62156259 rs201307031 1 1538 10 1/0 0,205,255 +rs140876104 2 97911153 G A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911153 97911153 Chr2(GRCh37):g.97911153G>A 4751 4751 NM_001354587.1:c.4751G>A p.Arg1584His p.Arg1584His 71 260 3' 88.2848 9.57438 0.983397 8.26876 88.2848 9.57438 0.983397 8.26876 0 rs140876104 no no 0 G 0.000000 0 0.000096 0.000135 0.000062 0.000000 0.000000 0.000514 0.000027 0.000045 0.000000 0.000514 23 2 2 0 0 15 3 1 0 239176 14840 32194 9670 16644 29174 109272 22044 5338 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 2 2 0 0 15 3 1 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition G A G>A 0.843 -0.360 R Arg CGT 0.082 H His CAT 0.413 1584 12 6 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.13 II.78 228 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G4829A:p.R1610H . . 0.2372093 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.144 . @ . . . . . 1 0.306 . . 215.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1610H|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.2867 -1.446 -1.287 c . . . . . 9.634e-05 . . . 0 0.0001 0 0 0 0 0.0020 0.0007 0 0.0001 0 0 0.0002 2.587e-05 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.143 . . exonic exonic exonic . . 0.083 @ . . . 0.42 0.32 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.106 . . 0.325 . . . 0.133 0.204 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.093 . . 0 0 0 0 0 0 . 0.689 . . 0.511 . . . . . . 0 0.398 . . . . . 0.161 . 0.083 . HET 0.17 rs140876104 . . . . . . . . . . . . V.34 . . 1.IV -1.47 . 0.110000 . . . . . . 0.030 . . . 0.0001 9.616e-05 6.212e-05 0 0 4.536e-05 2.745e-05 0 0.0005 . . . . . . . . . . 0.609 . -0.384 -0.384000 . . 0.110000 . . 1.0E-228 0.000 0.063 . 0.016 0.040 . 0.059 . 0.005 -0.384 -0.297 . rs62157160 rs62157160 rs62157160 rs199582458 1 1538 10 1/0 0,206,255 +rs796195467 2 97911668 G C - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911668 97911668 Chr2(GRCh37):g.97911668G>C 5266 5266 NM_001354587.1:c.5266G>C p.Asp1756His p.Asp1756His 71 -141 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs796195467 no no 0 G 0.000000 0 transversion G C G>C 0.079 -0.037 D Asp GAT 0.461 H His CAT 0.413 1756 12 4 Olive baboon 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 155.40 0.00 Tolerated 0.12 II.77 204 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G5344C:p.D1782H . . 0.17 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.250 . @ . . . . . 1 0.191 . . 100.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D1782H|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.7547 -0.816 -0.755 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.133 . . exonic exonic exonic . . 0.157 @ . . . 0.47 0.26 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.097 . . 0.212 . . . 0.026 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.647 . . 0.597 . . . . . . 0 0.193 . . . . . 0.071 . 0.084 . HET 0.19 . . . . . . . . . . . . . III.15 . . 1.IV 0.441 . 0.270000 . . . . . . 0.098 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.134 0.134000 . . 0.270000 . . 1.0E-204 1.000 0.715 . 0.043 0.000 . 0.339 . 0.061 0.134 -0.982 . rs2951081 rs2951081 rs2951081 rs2951081 1 1538 10 1/0 0,232,255 +rs796359143 2 97911680 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911680 97911680 Chr2(GRCh37):g.97911680C>G 5278 5278 NM_001354587.1:c.5278C>G p.Gln1760Glu p.Gln1760Glu 71 -129 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs796359143 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1160 134 4 8 18 0 766 186 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 111 Genomes transversion C G C>G 0.000 -0.037 Q Gln CAA 0.256 E Glu GAA 0.417 1760 12 4 Olive baboon 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 157.09 0.00 Tolerated 1 II.77 238 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C5356G:p.Q1786E . . 0.26666668 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.002 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q1786E|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.4476 -1.434 -1.448 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.128 . . exonic exonic exonic . . 0.140 @ . . . 0.45 0.26 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.027 . . 0.408 . . . 0.016 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.138 . . 0 0 0 0 0 0 . 0.213 . . 0.112 . . . . . . 0 0.010 . . . . . 0.039 . 0.104 . HET 1 . . . . . . . . . . . . . II.12 . . 1.IV 0.131 . 1.000000 . . . . . . 0.035 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.609 . 0.025 0.025000 . . 1.000000 . . 1.0E-238 0.004 0.165 . 0.083 0.002 . 0.384 . 0.054 0.025 -0.677 . . . rs76463801 rs76463801 1 1538 10 1/0 0,239,255 +rs796937977 2 97911684 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911684 97911684 Chr2(GRCh37):g.97911684A>G 5282 5282 NM_001354587.1:c.5282A>G p.Asn1761Ser p.Asn1761Ser 71 -125 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs796937977 no no 0 A 0.000000 0 transition A G A>G 0.016 0.286 N Asn AAC 0.536 S Ser AGC 0.243 1761 12 4 Olive baboon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 162.29 VI.18 Tolerated 0.18 II.77 233 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A5360G:p.N1787S . . 0.2524272 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.137 . . 103.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N1787S|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.9266 -1.073 -0.927 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.137 . . exonic exonic exonic . . 0.133 @ . . . 0.4 0.29 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.097 . . 0.262 . . . 0.417 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.360 . . 0.341 . . . . . . 0 0.599 . . . . . 0.153 . 0.009 . HET 0.03 . . . . . . . . . . . . . V.95 . . 1.IV 3.32E-4 . 0.060000 . . . . . . 0.051 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.001 0.001000 . . 0.060000 . . 1.0000000000000001E-233 0.152 0.235 . 0.083 0.013 . 0.268 . 0.095 0.001 0.804 . . . rs75678672 rs75678672 1 1538 10 1/0 0,238,255 +rs376286864 2 97911728 G A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911728 97911728 Chr2(GRCh37):g.97911728G>A 5326 5326 NM_001354587.1:c.5326G>A p.Asp1776Asn p.Asp1776Asn 71 -81 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs376286864 no no 0 G 0.000000 0 transition G A G>A 0.024 -0.198 D Asp GAC 0.539 N Asn AAC 0.536 1776 12 4 Olive baboon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 95.81 0.00 Tolerated 0.87 II.77 248 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.G5404A:p.D1802N . . 0.3 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.231 . . 80.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1802N|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -1.1483 -1.174 -1.148 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.130 . . exonic exonic exonic . . 0.072 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.022 . . 0.357 . . . 0.044 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.424 . . 0.257 . . . . . . 0 0.142 . . . . . 0.056 . 0.026 . HET 0.25 rs376286864 . . . . . . . . . . . . II.29 . . 1.IV -1.9 . 0.200000 . . . . . . 0.073 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.430 -0.430000 . . 0.200000 . . 1.0E-248 1.000 0.715 . 0.114 0.019 . 0.311 . 0.281 -0.430 -0.297 . . . rs376286864 rs376286864 1 1538 10 1/0 0,255,255 +rs370986739 2 97911732 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911732 97911732 Chr2(GRCh37):g.97911732A>G 5330 5330 NM_001354587.1:c.5330A>G p.Asn1777Ser p.Asn1777Ser 71 -77 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.54106 0 rs370986739 no no 0 A 0.000000 0 transition A G A>G 0.039 0.286 N Asn AAT 0.464 S Ser AGT 0.149 1777 12 10 Tetraodon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 46.24 0.00 Tolerated 0.34 II.77 242 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A5408G:p.N1803S . . 0.28169015 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.026 . @ . . . . . 1 0.154 . . 71.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N1803S|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.8141 -0.981 -0.814 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.141 @ . . . 0.39 0.27 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.318 . . 0.107 . . . 0.663 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.770 . . 0 0 0 0 0 0 . 0.670 . . 0.708 . . . . . . 0 0.285 . . . . . 0.130 . 0.111 . HET 0.01 rs370986739 . . . . . . . . . . . . IV.35 . . 1.IV 0.142 . 0.110000 . . . . . . 0.209 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.033 0.033000 . . 0.110000 . . 1.0E-242 0.952 0.329 . 0.043 0.069 . 0.232 . 0.004 0.033 0.804 . . . rs79069163 rs370986739 1 1538 10 1/0 0,255,255 +rs374627587 2 97911750 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911750 97911750 Chr2(GRCh37):g.97911750A>G 5348 5348 NM_001354587.1:c.5348A>G p.Glu1783Gly p.Glu1783Gly 71 -59 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.39722 0 rs374627587 no no 0 A 0.000000 0 transition A G A>G 0.016 0.286 E Glu GAA 0.417 G Gly GGA 0.246 1783 12 4 Pig -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 199.49 0.00 Tolerated 0.27 II.77 243 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.A5426G:p.E1809G . . 0.28070176 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.067 . @ . . . . . 1 0.376 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1809G|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.4110 -0.678 -0.411 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.179 . . exonic exonic exonic . . 0.141 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.367 . . 0.120 . . . 0.800 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.918 . . 0 0 0 0 0 0 . 0.764 . . 0.754 . . . . . . 0 0.682 . . . . . 0.129 . 0.107 . HET 0.06 rs374627587 . . . . . . . . . . . . IV.04 . . 1.IV 0.143 . 0.010000 . . . . . . 0.256 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.036 0.036000 . . 0.010000 . . 1.0E-243 0.990 0.367 . 0.043 0.100 . 0.573 . 0.096 0.036 -0.066 . . . rs374627587 rs374627587 1 1538 10 1/0 0,255,255 +rs376171173 2 97911752 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97911752 97911752 Chr2(GRCh37):g.97911752C>T 5350 5350 NM_001354587.1:c.5350C>T p.Leu1784= p.Leu1784Leu 71 -57 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.26843 0 rs376171173 no no 0 C 0.000000 0 transition C T C>T 0.008 -0.198 L Leu CTG 0.404 L Leu TTG 0.127 1784 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C5428T:p.L1810L . . 0.33962265 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1810|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.3894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.25 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376171173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2922554 rs2922554 rs2922554 rs2922554 1 1538 10 1/0 0,255,255 +rs370246796 2 97911762 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911762 97911762 Chr2(GRCh37):g.97911762C>T 5360 5360 NM_001354587.1:c.5360C>T p.Ser1787Leu p.Ser1787Leu 71 -47 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.0998 0 rs370246796 no no 0 C 0.000000 0 transition C T C>T 0.016 -0.360 S Ser TCG 0.056 L Leu TTG 0.127 1787 12 2 Chimp -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 144.08 0.00 Tolerated 1 II.78 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C5438T:p.S1813L . . 0.3529412 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.001 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1813L|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -2.1564 -2.032 -2.156 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.040 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.045 0.002 . . 37 . 0.007 . . 0.449 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.053 . 0.160 . HET 1 rs370246796 . . . . . . . . . . . . II.59 . . 1.IV -2.03 . 1.000000 . . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.397 -0.397000 . . 1.000000 . . 1.0E-255 0.999 0.424 . 0.062 0.170 . 0.320 . 0.019 -0.397 -0.520 . . . rs370246796 rs370246796 1 1538 10 1/0 0,255,255 +. 2 97911776 T C - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution missense exon GRCh37 97911776 97911776 Chr2(GRCh37):g.97911776T>C 5374 5374 NM_001354587.1:c.5374T>C p.Cys1792Arg p.Cys1792Arg 71 -33 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 3.26832 0 transition T C T>C 0.000 0.286 C Cys TGC 0.552 R Arg CGC 0.190 1792 12 4 Olive baboon -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 232.06 I.62 Tolerated 0.34 II.77 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.T5452C:p.C1818R . . 0.39473686 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.029 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C1818R|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.9443 -1.122 -0.944 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.133 . . exonic exonic exonic . . 0.140 @ . . . 0.36 0.28 182 ENSG00000135976 ANKRD36 ANKRD36 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.261 . . 0.169 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.824 . . 0 0 0 0 0 0 . 0.689 . . 0.782 . . . . . . 0 0.139 . . . . . 0.130 . 0.248 . HET 0.33 . . . . . . . . . . . . . IV.35 . . 1.IV 0.14 . 0.340000 . . . . . . 0.130 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.033 0.033000 . . 0.340000 . . 1.0E-255 0.590 0.274 . 0.016 0.115 . 0.230 . 0.004 0.033 0.755 . . . rs79283634 rs200778176 1 1538 10 1/0 0,255,255 +rs367900895 2 97911778 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution synonymous exon GRCh37 97911778 97911778 Chr2(GRCh37):g.97911778C>T 5376 5376 NM_001354587.1:c.5376C>T p.Cys1792= p.Cys1792Cys 71 -31 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.34728 0 rs367900895 no no 0 C 0.000000 0 transition C T C>T 0.024 0.286 C Cys TGC 0.552 C Cys TGT 0.448 1792 255 PASS . . . . . . . . . . . . . ANKRD36:NM_001164315:exon71:c.C5454T:p.C1818C . . 0.42424244 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C1818|ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.71) . . . . . . . -0.0029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367900895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs367900895 rs367900895 1 1538 10 1/0 0,0,0 +. 2 97915799 T A - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915799 97915799 Chr2(GRCh37):g.97915799T>A 5725-82 5725-82 NM_001354587.1:c.5725-82T>A p.? p.? 75 74 -82 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.69172 0 97915798 -5.96791 transversion T A T>A 0.091 0.125 248 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.3360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.28 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . rs201442943 rs201442943 1 1538 10 1/0 0,255,255 +. 2 97915812 A G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915812 97915812 Chr2(GRCh37):g.97915812A>G 5725-69 5725-69 NM_001354587.1:c.5725-69A>G p.? p.? 75 74 -69 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.77203 0 97915812 -83.139 transition A G A>G 0.055 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.3405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.24 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62156864 rs62156864 rs62156864 rs199734252 1 1538 10 1/0 0,255,255 +rs370611582 2 97915853 A T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915853 97915853 Chr2(GRCh37):g.97915853A>T 5725-28 5725-28 NM_001354587.1:c.5725-28A>T p.? p.? 75 74 -28 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.85729 0 rs370611582 no no 0 A 0.000000 0 transversion A T A>T 0.031 -0.602 242 PASS . . . . . . . . . . . . . . . . 0.28125 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.3415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370611582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . rs370611582 rs370611582 1 1538 10 1/0 0,244,255 +. 2 97915886 G GC - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 duplication frameshift exon GRCh37 97915887 97915888 Chr2(GRCh37):g.97915887dup 5731 5731 NM_001354587.1:c.5731dup p.Gln1911Profs*4 p.Gln1911Profs*4 75 7 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.883437 2.65177 -0.00405781 rs752428198 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . ANKRD36:uc010yva.2:exon75:c.5809dupC:p.L1936fs ANKRD36:NM_001164315:exon75:c.5809dupC:p.L1936fs . . 0.30526316 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 95 . . FRAME_SHIFT(HIGH||||ANKRD36|mRNA|CODING|NM_001164315|NM_001164315.ex.75) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs752428198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,52 +rs879139148 2 97915966 C G - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915966 97915966 Chr2(GRCh37):g.97915966C>G *6+56 *6+56 NM_001354587.1:c.*6+56C>G p.? p.? 75 75 56 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 I.91 0 New Donor Site 97915965 8.59132 0.933171 78.1641 rs879139148 no no 0 C 0.000000 0 transversion C G C>G 0.031 -1.247 186 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.4753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.21 182 ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . rs3970435 rs3970435 rs3970435 rs3970435 1 1538 10 1/0 0,240,255 +. 2 97915978 C T - ANKRD36 24079 Ankyrin repeat domain 36 NM_001354587.1 1 6534 5748 NP_001341516.1 substitution intron GRCh37 97915978 97915978 Chr2(GRCh37):g.97915978C>T *6+68 *6+68 NM_001354587.1:c.*6+68C>T p.? p.? 75 75 68 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 1.61681 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000075 0.000000 0.000000 0.000075 1 0 0 0 0 0 1 0 0 27414 8084 558 216 1026 0 13330 3362 838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition C T C>T 0.000 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.10666667 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . INTRON(MODIFIER||||ANKRD36|mRNA|CODING|NM_001164315|) . . . . . . . -0.5711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000135976 ANKRD36 ANKRD36 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.648e-05 0 0 0 0 7.502e-05 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 2 98123421 AG A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 deletion intron GRCh37 98123422 98123422 Chr2(GRCh37):g.98123422del *6+77 *6+77 NM_025190.3:c.*6+77del p.? p.? 43 43 77 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 1.31413 0 C 255 Pass . . . . . . . . . . . . . . . . 0.1904762 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 63 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,72 +. 2 98123431 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123431 98123431 Chr2(GRCh37):g.98123431G>A *6+68 *6+68 NM_025190.3:c.*6+68C>T p.? p.? 43 43 68 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 1.61681 0 transition C T C>T 0.008 -0.763 188 PASS . . . . . . . . . . . . . . . . 0.13235295 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.5885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +. 2 98123443 G C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123443 98123443 Chr2(GRCh37):g.98123443G>C *6+56 *6+56 NM_025190.3:c.*6+56C>G p.? p.? 43 43 56 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 I.91 0 New Donor Site 98123444 8.59132 0.933171 78.1641 transversion C G C>G 0.488 -0.602 208 PASS . . . . . . . . . . . . . . . . 0.18055555 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.1075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.37 0.16 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . rs3970435 rs3970435 rs3970435 rs3970435 1 1538 10 1/0 0,247,255 +. 2 98123493 A G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123493 98123493 Chr2(GRCh37):g.98123493A>G *6+6 *6+6 NM_025190.3:c.*6+6T>C p.? p.? 43 43 6 5' 89.5197 9.78772 0.981514 1.47242 83.7411 9.54919 0.955049 0 -0.0386283 transition T C T>C 0.980 -0.037 201 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . 0.5362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.45 0.26 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs200556363 rs200556363 1 1538 10 1/0 0,235,255 +. 2 98123513 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98123513 98123513 Chr2(GRCh37):g.98123513C>T 4054 4054 NM_025190.3:c.4054G>A p.Glu1352Lys p.Glu1352Lys 43 -15 5' 89.5197 9.78772 0.981514 1.47242 89.5197 9.78772 0.981514 0.763048 0 transition G A G>A 0.189 -0.360 E Glu GAG 0.583 K Lys AAG 0.575 1352 12 4 Zebrafish 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 95.81 21.98 Tolerated 0.19 II.72 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon43:c.G4054A:p.E1352K . . 0.5 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.070 . @ . . . . . 1 0.003 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1352K|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.43) . . . . . . . -0.2537 -0.187 -0.254 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.101 @ . . . 0.31 0.18 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.010 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.176 . 0.186 . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.063 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.741 0.288 . 0.043 0.004 . 0.062 . 0.006 . -1.297 . rs2309084 rs2309084 rs2309084 rs201369506 1 1538 10 1/0 0,255,255 +. 2 98123514 A G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98123514 98123514 Chr2(GRCh37):g.98123514A>G 4053 4053 NM_025190.3:c.4053T>C p.Phe1351= p.Phe1351Phe 43 15 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.872023 3.02835 -0.00831205 transition T C T>C 0.189 -0.521 F Phe TTT 0.454 F Phe TTC 0.546 1351 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon43:c.T4053C:p.F1351F . . 0.52040815 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F1351|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.43) . . . . . . . -0.2730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.34 0.18 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2871115 rs2871115 rs2871115 rs199683914 1 1538 10 1/0 0,255,255 +. 2 98123521 T TG - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 duplication frameshift exon GRCh37 98123521 98123522 Chr2(GRCh37):g.98123522dup 4045 4045 NM_025190.3:c.4045dup p.Gln1349Profs*4 p.Gln1349Profs*4 43 7 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.883437 2.65177 -0.00405781 C 255 Pass . . . . . . . . . . . . . ANKRD36B:NM_025190:exon43:c.4045dupC:p.Q1349fs . . 0.34444445 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 90 . . FRAME_SHIFT(HIGH||||ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.43) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 2 98123556 T A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123556 98123556 Chr2(GRCh37):g.98123556T>A 4039-28 4039-28 NM_025190.3:c.4039-28A>T p.? p.? 43 42 -28 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.85729 0 transversion A T A>T 0.102 -1.005 236 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.2828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 2 98123574 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123574 98123574 Chr2(GRCh37):g.98123574G>A 4039-46 4039-46 NM_025190.3:c.4039-46C>T p.? p.? 43 42 -46 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.47507 0 transition C T C>T 0.008 -0.037 213 PASS . . . . . . . . . . . . . . . . 0.19512194 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.2226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.32 0.09 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs62157179 rs62157179 rs62157179 rs62157179 1 1538 10 1/0 0,243,255 +. 2 98123597 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123597 98123597 Chr2(GRCh37):g.98123597T>C 4039-69 4039-69 NM_025190.3:c.4039-69A>G p.? p.? 43 42 -69 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.77203 0 98123597 -83.139 transition A G A>G 0.055 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.3121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.26 0.11 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62156864 rs62156864 rs62156864 rs62156864 1 1538 10 1/0 0,255,255 +. 2 98123610 A T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98123610 98123610 Chr2(GRCh37):g.98123610A>T 4039-82 4039-82 NM_025190.3:c.4039-82T>A p.? p.? 43 42 -82 3' 88.857 8.44615 0.894324 2.57766 88.857 8.44615 0.894324 2.69172 0 98123611 -5.96791 transversion T A T>A 0.094 0.125 227 PASS . . . . . . . . . . . . . . . . 0.2361111 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.3173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 2 98127631 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98127631 98127631 Chr2(GRCh37):g.98127631G>A 3690 3690 NM_025190.3:c.3690C>T p.Cys1230= p.Cys1230Cys 39 -31 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.34728 0 transition C T C>T 0.008 0.286 C Cys TGC 0.552 C Cys TGT 0.448 1230 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3690T:p.C1230C . . 0.35714287 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 42.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C1230|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 98127633 A G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127633 98127633 Chr2(GRCh37):g.98127633A>G 3688 3688 NM_025190.3:c.3688T>C p.Cys1230Arg p.Cys1230Arg 39 -33 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 3.26832 0 transition T C T>C 0.000 0.286 C Cys TGC 0.552 R Arg CGC 0.190 1230 12 4 Olive baboon -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 232.06 I.62 Tolerated 0.33 II.72 bad 6.735E-3 0.05487 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.T3688C:p.C1230R . . 0.4318182 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.069 . @ . . . . . 1 0.007 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C1230R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.2151 -0.159 -0.215 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.141 @ . . . 0.58 0.28 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.640 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.130 . 0.025 . HET 0.31 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.116 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.998 0.411 . 0.016 0.113 . 0.328 . 0.003 . 0.804 . . . rs79283634 rs79283634 1 1538 10 1/0 0,255,255 +rs575612756 2 98127647 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127647 98127647 Chr2(GRCh37):g.98127647G>A 3674 3674 NM_025190.3:c.3674C>T p.Ser1225Leu p.Ser1225Leu 39 -47 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.0998 0 0.000150 0.000154 0.000000 0.000000 0.000784 0.000000 0.000081 0.000000 0.000000 0.000784 5 1 0 0 3 0 1 0 0 33384 6514 3850 764 3826 3050 12382 2020 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 3 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.037 S Ser TCG 0.056 L Leu TTG 0.127 1225 12 2 Chimp -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 144.08 0.00 Tolerated 1 II.73 good 4.798E-1 0.1929 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3674T:p.S1225L . . 0.46938777 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.073 . @ . . . . . 1 0.065 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1225L|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.0563 -0.129 -0.056 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.141 0.0002 . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.001 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.099 . 0.114 . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.026 . . . 0 0.0002 0 0 0.0006 0 0.0002 0 0 0.0002 0.0001 0 0 0.0013 0 0 0 . . 0.042 . . . . . . . . 1.0E-255 1.000 0.715 . 0.150 0.224 . 0.432 . 0.098 . -0.489 . . . . . 1 1538 10 1/0 0,255,255 +. 2 98127657 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98127657 98127657 Chr2(GRCh37):g.98127657G>A 3664 3664 NM_025190.3:c.3664C>T p.Leu1222= p.Leu1222Leu 39 -57 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.26843 0 transition C T C>T 0.008 -0.198 L Leu CTG 0.404 L Leu TTG 0.127 1222 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3664T:p.L1222L . . 0.38709676 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1222|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.4336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.58 0.23 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2922554 rs2922554 rs2922554 rs2922554 1 1538 10 1/0 0,255,255 +. 2 98127659 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127659 98127659 Chr2(GRCh37):g.98127659T>C 3662 3662 NM_025190.3:c.3662A>G p.Glu1221Gly p.Glu1221Gly 39 -59 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.39722 0 transition A G A>G 0.016 1.416 E Glu GAA 0.417 G Gly GGA 0.246 1221 12 4 Pig -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 199.49 0.00 Tolerated 0.3 II.72 bad 9.192E-4 0.001344 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3662G:p.E1221G . . 0.36666667 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.055 . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1221G|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2711 -0.080 0.271 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.818 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.518 . . 0.419 . . . . . . 0 . . . . . . 0.232 . 0.185 . HET 0.13 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.294 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.987 0.361 . 0.095 0.199 . 0.629 . 0.281 . 0.755 . . . . . 1 1538 10 1/0 0,255,255 +. 2 98127669 A T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127669 98127669 Chr2(GRCh37):g.98127669A>T 3652 3652 NM_025190.3:c.3652T>A p.Leu1218Met p.Leu1218Met 39 -69 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 3.11076 0 transversion T A T>A 0.000 0.286 L Leu TTG 0.127 M Met ATG 1.000 1218 12 11 Zebrafish 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 14.30 0.00 Tolerated 0.05 II.72 good 4.028E-1 0.06459 175 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.T3652A:p.L1218M . . 0.103896104 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.020 . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Atg|L1218M|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.0259 -0.131 -0.026 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.852 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.689 . . 0.764 . . . . . . 0 . . . . . . 0.119 . 0.241 . LowAF 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.200 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-175 0.968 0.339 . 0.090 0.070 . 0.300 . 0.286 . 0.804 . . . . . 1 1538 10 1/0 0,237,255 +. 2 98127677 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127677 98127677 Chr2(GRCh37):g.98127677T>C 3644 3644 NM_025190.3:c.3644A>G p.Asn1215Ser p.Asn1215Ser 39 -77 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.54106 0 transition A G A>G 0.047 1.416 N Asn AAT 0.464 S Ser AGT 0.149 1215 12 10 Tetraodon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 46.24 0.00 Tolerated 0.3 II.72 good 2.777E-2 0.004316 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3644G:p.N1215S . . 0.37037036 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.037 . . 81.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N1215S|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1508 -0.097 0.151 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.61 0.32 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.697 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.604 . . 0.649 . . . . . . 0 . . . . . . 0.232 . 0.193 . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.244 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.998 0.411 . 0.016 0.033 . 0.270 . 0.003 . 0.755 . . . rs79069163 rs79069163 1 1538 10 1/0 0,255,255 +. 2 98127681 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127681 98127681 Chr2(GRCh37):g.98127681C>T 3640 3640 NM_025190.3:c.3640G>A p.Asp1214Asn p.Asp1214Asn 39 -81 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 0.000286 0.000976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000976 4 4 0 0 0 0 0 0 0 13972 4100 476 138 564 0 6064 2182 448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 29 Genomes transition G A G>A 0.031 -0.198 D Asp GAC 0.539 N Asn AAC 0.536 1214 12 4 Olive baboon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 95.81 0.00 Tolerated 0.86 II.72 good 2.966E-1 0.1625 252 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3640A:p.D1214N . . 0.31325302 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.043 . . 83.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1214N|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0003 -0.123 0.000 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.072 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.044 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.318 . . 0.216 . . . . . . 0 . . . . . . 0.056 . 0.003 . HET 0.48 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.066 . . . . . . . . . . . . 0.0010 0.0003 0 0 0 0 0 0 . . 0.042 . . . . . . . . 1.0000000000000001E-252 1.000 0.715 . 0.062 0.009 . 0.259 . 0.076 . -0.334 . . . . . 1 1538 10 1/0 0,253,255 +. 2 98127725 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127725 98127725 Chr2(GRCh37):g.98127725T>C 3596 3596 NM_025190.3:c.3596A>G p.Asn1199Ser p.Asn1199Ser 39 -125 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 transition A G A>G 0.000 -0.279 N Asn AAC 0.536 S Ser AGC 0.243 1199 12 4 Olive baboon 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 162.29 VI.18 Tolerated 0.19 II.72 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3596G:p.N1199S . . 0.33333334 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.125 . @ . . . . . 1 0.113 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N1199S|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.1892 -0.163 -0.189 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.066 @ . . . 0.67 0.4 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.469 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.219 . . 0.112 . . . . . . 0 . . . . . . 0.055 . 0.019 . HET 0.03 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.390 0.259 . 0.043 0.014 . 0.229 . 0.076 . 0.755 . . . rs75678672 rs75678672 1 1538 10 1/0 0,245,255 +rs556831102 2 98127729 G C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127729 98127729 Chr2(GRCh37):g.98127729G>C 3592 3592 NM_025190.3:c.3592C>G p.Gln1198Glu p.Gln1198Glu 39 -129 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs556831102 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 transversion C G C>G 0.000 -0.037 Q Gln CAA 0.256 E Glu GAA 0.417 1198 12 4 Olive baboon 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 157.09 0.00 Tolerated 1 II.72 unknown 0.0 0.0 255 PASS . . . . . . 0.0002 . 0.001 . . . . ANKRD36B:NM_025190:exon39:c.C3592G:p.Q1198E . . 0.35576922 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.129 . @ . . . . . 1 0.097 . . 104.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q1198E|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.0488 -0.137 -0.049 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.140 0.0002 . . . 0.71 0.28 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.016 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.184 . . 0.080 . . . . . . 0 . . . . . . 0.039 . 0.032 . HET 0.76 rs556831102 . . . . . . . . . . . . . . . . . . . . . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.010 0.182 . 0.074 0.002 . 0.329 . 0.059 . -0.654 . . . rs76463801 rs76463801 1 1538 10 1/0 0,248,255 +. 2 98127741 C G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127741 98127741 Chr2(GRCh37):g.98127741C>G 3580 3580 NM_025190.3:c.3580G>C p.Asp1194His p.Asp1194His 39 -141 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 transversion G C G>C 0.071 -0.037 D Asp GAT 0.461 H His CAT 0.413 1194 12 4 Olive baboon 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 155.40 0.00 Tolerated 0.12 II.72 unknown 0.0 0.0 205 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3580C:p.D1194H . . 0.17272727 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.161 . @ . . . . . 1 0.115 . . 110.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D1194H|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2813 -0.077 0.281 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.157 @ . . . 0.65 0.19 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.026 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.112 . . 0.063 . . . . . . 0 . . . . . . 0.071 . 0.049 . HET 0.31 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.092 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-205 1.000 0.715 . 0.062 0.000 . 0.352 . 0.054 . -1.040 . rs2951081 rs2951081 rs2951081 rs2951081 1 1538 10 1/0 0,229,255 +. 2 98127923 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127923 98127923 Chr2(GRCh37):g.98127923T>C 3398 3398 NM_025190.3:c.3398A>G p.Gln1133Arg p.Gln1133Arg 39 -323 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 transition A G A>G 0.685 0.528 Q Gln CAA 0.256 R Arg CGA 0.110 1133 12 9 Grenn anole 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 56.64 0.00 Tolerated 0.49 II.72 unknown 0.0 0.0 178 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3398G:p.Q1133R . . 0.10989011 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.087 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q1133R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2280 -0.098 0.228 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.36 0.11 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.087 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.241 . . 0.112 . . . . . . 0 . . . . . . 0.062 . 0.024 . LowAF 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.250 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-178 0.998 0.411 . 0.143 0.043 . 0.412 . 0.084 . 0.755 . . . rs76393995 rs200574546 1 1538 10 1/0 0,231,255 +. 2 98127993 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98127993 98127993 Chr2(GRCh37):g.98127993C>T 3328 3328 NM_025190.3:c.3328G>A p.Gly1110Arg p.Gly1110Arg 39 -393 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 transition G A G>A 0.835 0.286 G Gly GGA 0.246 R Arg AGA 0.205 1110 12 2 Chimp -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 247.86 0.00 Tolerated 0.63 II.74 good 7.072E-1 0.7796 194 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3328A:p.G1110R . . 0.14634146 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.097 . @ . . . . . 1 0.020 . . 82.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1110R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.2089 -0.159 -0.209 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.140 @ . . . 0.72 0.34 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.002 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.132 . 0.047 . LowAF 0.94 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-194 0.002 0.151 . 0.181 0.025 . 0.320 . 0.084 . -1.513 . . . rs79386559 rs201258098 1 1538 10 1/0 0,238,255 +rs2595354 2 98128014 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128014 98128014 Chr2(GRCh37):g.98128014T>C 3307 3307 NM_025190.3:c.3307A>G p.Lys1103Glu p.Lys1103Glu 39 -414 5' 84.8093 9.81513 0.993781 2.63675 84.8093 9.81513 0.993781 2.63675 0 rs2595354 no no 0 T 0.000000 0 transition A G A>G 0.953 0.528 K Lys AAA 0.425 E Glu GAA 0.417 1103 12 3 Grenn anole 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 56.87 0.00 Tolerated 1 II.72 good 9.805E-1 0.1341 191 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3307G:p.K1103E . . 0.13793103 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.065 . @ . . . . . 1 0.012 . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1103E|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0449 -0.113 0.045 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.160 @ . . . 0.69 0.39 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.013 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.190 . 0.029 . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.048 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-191 0.998 0.411 . 0.043 0.032 . 0.380 . 0.002 . -0.672 . rs2595354 rs2595354 rs2595354 rs199799974 1 1538 10 1/0 0,235,255 +rs74322178 2 98128093 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128093 98128093 Chr2(GRCh37):g.98128093G>A 3228 3228 NM_025190.3:c.3228C>T p.His1076= p.His1076His 39 423 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 Cryptic Acceptor Weakly Activated 98128086 8.71889 0.310379 85.8961 9.09192 0.509198 87.4067 rs74322178 no no 0 G 0.000000 0 transition C T C>T 0.063 -0.602 H His CAC 0.587 H His CAT 0.413 1076 196 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3228T:p.H1076H . . 0.14942528 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H1076|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.2069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.72 0.3 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs74322178 rs74322178 1 1538 10 1/0 0,236,255 +rs879076964 2 98128098 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128098 98128098 Chr2(GRCh37):g.98128098G>A 3223 3223 NM_025190.3:c.3223C>T p.Arg1075Cys p.Arg1075Cys 39 418 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 Cryptic Acceptor Strongly Activated 98128086 8.71889 0.310379 85.8961 9.41051 0.404307 89.2107 rs879076964 no no 0 G 0.000000 0 transition C T C>T 0.039 -0.279 R Arg CGT 0.082 C Cys TGT 0.448 1075 12 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 220.83 0.00 Tolerated 0.2 II.72 unknown 0.0 0.0 204 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3223T:p.R1075C . . 0.17045455 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.054 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1075C|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.1349 -0.149 -0.135 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.152 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.006 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.177 . 0.101 . HET 0.43 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.099 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-204 1.000 0.715 . 0.090 0.010 . 0.237 . 0.100 . -1.103 . . . . . 1 1538 10 1/0 0,237,255 +rs77554739 2 98128099 A C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128099 98128099 Chr2(GRCh37):g.98128099A>C 3222 3222 NM_025190.3:c.3222T>G p.Cys1074Trp p.Cys1074Trp 39 417 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77554739 no no 0 A 0.000000 0 transversion T G T>G 0.220 0.044 C Cys TGT 0.448 W Trp TGG 1.000 1074 12 2 Chimp -5 -2 -5 II.75 0.13 5.V 5.IV 55 170 215 C0 236.20 0.00 Tolerated 1 II.72 unknown 0.0 0.0 196 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.T3222G:p.C1074W . . 0.15053764 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 1 0.005 . . 93.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgT/tgG|C1074W|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.0659 -0.138 -0.066 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.112 @ . . . 0.75 0.35 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.002 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.146 . 0.260 . HET 0.52 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-196 1.000 0.715 . 0.108 0.015 . 0.440 . 0.068 . -0.995 . . . rs77554739 rs77554739 1 1538 10 1/0 0,233,255 +rs77670346 2 98128135 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128135 98128135 Chr2(GRCh37):g.98128135G>A 3186 3186 NM_025190.3:c.3186C>T p.Asp1062= p.Asp1062Asp 39 381 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs77670346 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.945 0.448 D Asp GAC 0.539 D Asp GAT 0.461 1062 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3186T:p.D1062D . . 0.44354838 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1062|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.4182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.74 0.32 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77670346 rs200814958 1 1538 10 1/0 0,240,250 +rs78029304 2 98128143 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128143 98128143 Chr2(GRCh37):g.98128143T>C 3178 3178 NM_025190.3:c.3178A>G p.Lys1060Glu p.Lys1060Glu 39 373 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs78029304 no no 0 T 0.000000 0 transition A G A>G 0.976 -0.682 K Lys AAA 0.425 E Glu GAA 0.417 1060 12 8 Tetraodon 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 243.06 0.00 Tolerated 0.24 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3178G:p.K1060E . . 0.50735295 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.010 . . 136.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1060E|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0128 -0.118 0.013 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.051 @ . . . 0.72 0.42 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.484 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.231 . 0.138 . HET 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.233 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.976 0.346 . 0.183 0.921 . 0.272 . 0.004 . -0.143 . . . rs78029304 rs201832547 1 1538 10 1/0 0,238,241 +. 2 98128150 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128150 98128150 Chr2(GRCh37):g.98128150G>A 3171 3171 NM_025190.3:c.3171C>T p.His1057= p.His1057His 39 366 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transition C T C>T 0.827 0.044 H His CAC 0.587 H His CAT 0.413 1057 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3171T:p.H1057H . . 0.49285713 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H1057|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.76 0.34 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75626580 rs199988876 1 1538 10 1/0 0,238,246 +rs74900052 2 98128172 C A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128172 98128172 Chr2(GRCh37):g.98128172C>A 3149 3149 NM_025190.3:c.3149G>T p.Arg1050Leu p.Arg1050Leu 39 344 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs74900052 yes no Frequency 1 C 0.000000 0 0.000015 0.000000 0.000076 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000076 2 0 2 0 0 0 0 0 0 131576 2762 26272 5080 13446 25392 47494 8360 2770 0.500000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transversion G T G>T 0.000 -0.682 R Arg CGA 0.110 L Leu CTA 0.070 1050 12 1 -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 269.39 0.00 Tolerated 0.7 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3149T:p.R1050L . . 0.6820809 . . @ 118 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.036 . . 173.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cTa|R1050L|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.4659 -0.194 -0.466 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.050 @ . . . 0.74 0.35 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.004 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 . . . . . . 0.070 . 0.120 . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . 0 1.52e-05 7.613e-05 0 0 0 0 0 0 . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.005 0.169 . 0.043 0.024 . 0.330 . 0.093 . -0.930 . . . rs74900052 rs199831829 1 1538 10 1/0 0,231,226 +. 2 98128183 C G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128183 98128183 Chr2(GRCh37):g.98128183C>G 3138 3138 NM_025190.3:c.3138G>C p.Leu1046= p.Leu1046Leu 39 333 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transversion G C G>C 0.024 0.609 L Leu CTG 0.404 L Leu CTC 0.197 1046 254 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3138C:p.L1046L . . 0.31666666 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 180.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctC|L1046|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.78 0.41 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs201935800 rs201935800 1 1538 10 1/0 0,219,255 +. 2 98128194 G C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128194 98128194 Chr2(GRCh37):g.98128194G>C 3127 3127 NM_025190.3:c.3127C>G p.Arg1043Gly p.Arg1043Gly 39 322 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131700 2778 26282 5078 13450 25386 47582 8368 2776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transversion C G C>G 0.110 0.609 R Arg CGT 0.082 G Gly GGT 0.162 1043 12 10 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 241.31 22.66 Deleterious 0.01 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3127G:p.R1043G . . 0.7 . . @ 126 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.009 . . 180.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R1043G|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0659 -0.099 0.066 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.169 @ . . . 0.72 0.33 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.761 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.365 . . 0.248 . . . . . . 0 . . . . . . 0.199 . 0.236 . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.293 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.031 . . . . . . . . 1.0E-255 1.000 0.715 . 0.114 0.261 . 0.514 . 0.081 . 0.697 . . . rs150462050 rs150462050 1 1538 10 1/0 0,230,225 +. 2 98128195 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128195 98128195 Chr2(GRCh37):g.98128195G>A 3126 3126 NM_025190.3:c.3126C>T p.Tyr1042= p.Tyr1042Tyr 39 321 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 Cryptic Acceptor Strongly Activated 98128186 3.63196 0.032744 75.2347 3.92569 0.081331 77.9466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131728 2778 26282 5080 13454 25392 47596 8370 2776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition C T C>T 0.150 0.205 Y Tyr TAC 0.562 Y Tyr TAT 0.438 1042 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3126T:p.Y1042Y . . 0.70718235 . . @ 128 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 181.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y1042|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.72 0.32 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149359707 rs149359707 1 1538 10 1/0 0,229,224 +. 2 98128196 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128196 98128196 Chr2(GRCh37):g.98128196T>C 3125 3125 NM_025190.3:c.3125A>G p.Tyr1042Cys p.Tyr1042Cys 39 320 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131706 2776 26286 5078 13452 25390 47582 8366 2776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition A G A>G 0.205 0.367 Y Tyr TAC 0.562 C Cys TGC 0.552 1042 12 7 Platypus -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 255.37 0.00 Tolerated 0.12 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3125G:p.Y1042C . . 0.7032967 . . @ 128 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.087 . @ . . . . . 1 0.035 . . 182.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1042C|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2660 -0.074 0.266 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.222 @ . . . 0.72 0.4 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.684 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.715 . . 0.616 . . . . . . 0 . . . . . . 0.080 . 0.577 . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.214 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.031 . . . . . . . . 1.0E-255 0.998 0.411 . 0.157 0.371 . 0.334 . 0.281 . 0.755 . . . rs148539055 rs148539055 1 1538 10 1/0 0,230,225 +. 2 98128234 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128234 98128234 Chr2(GRCh37):g.98128234T>C 3087 3087 NM_025190.3:c.3087A>G p.Arg1029= p.Arg1029Arg 39 282 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transition A G A>G 0.346 0.286 R Arg AGA 0.205 R Arg AGG 0.207 1029 185 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A3087G:p.R1029R . . 0.12244898 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 245.0 . . SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R1029|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.75 0.43 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs199956303 rs199956303 1 1538 10 1/0 0,189,255 +. 2 98128256 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128256 98128256 Chr2(GRCh37):g.98128256C>T 3065 3065 NM_025190.3:c.3065G>A p.Arg1022His p.Arg1022His 39 260 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000054 0.000000 0.000051 0.000000 0.000000 0.000204 0.000000 0.000000 0.000000 0.000204 5 0 1 0 0 4 0 0 0 93114 3256 19496 4366 9656 19634 28158 6460 2088 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 61 Exomes transition G A G>A 0.748 -0.279 R Arg CGT 0.082 H His CAT 0.413 1022 12 6 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.15 II.75 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G3065A:p.R1022H . . 0.7105263 . . @ 162 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.085 . . 228.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1022H|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.4380 -0.184 -0.438 n . . . . . 3.285e-05 . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.083 @ . . . 0.74 0.37 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.088 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.600 . . 0.286 . . . . . . 0 . . . . . . 0.161 . 0.491 . HET 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.024 . . . 0 5.37e-05 5.129e-05 0 0 0 0 0 0.0002 . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.001 0.137 . 0.016 0.031 . 0.043 . 0.018 . -1.837 . rs62157160 rs62157160 rs62157160 rs140876104 1 1538 10 1/0 0,231,230 +. 2 98128258 G C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128258 98128258 Chr2(GRCh37):g.98128258G>C 3063 3063 NM_025190.3:c.3063C>G p.Leu1021= p.Leu1021Leu 39 258 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000164 0.000000 0.000000 0.000000 0.000164 3 0 0 0 0 3 0 0 0 87578 3552 17870 4086 8966 18268 26624 6214 1998 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 RF 59 Exomes transversion C G C>G 0.764 -0.360 L Leu CTC 0.197 L Leu CTG 0.404 1021 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3063G:p.L1021L . . 0.69298244 . . @ 158 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctG|L1021|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.2846 . . . . . . . . 3.445e-05 . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.72 0.33 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.426e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62156259 rs62156259 rs62156259 rs148854709 1 1538 10 1/0 0,232,231 +rs770028177 2 98128262 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128262 98128262 Chr2(GRCh37):g.98128262G>A 3059 3059 NM_025190.3:c.3059C>T p.Thr1020Met p.Thr1020Met 39 254 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs770028177 yes no Frequency 1 G 0.000000 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000175 0.000000 0.000000 0.000000 0.000175 3 0 0 0 0 3 0 0 0 83134 3816 16334 3790 8460 17140 25566 6074 1954 0.333333 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 51 Exomes transition C T C>T 0.953 0.286 T Thr ACG 0.116 M Met ATG 1.000 1020 12 4 Olive baboon -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Tolerated 0.23 II.75 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3059T:p.T1020M . . 0.11965812 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.108 . @ . . . . . 1 0.051 . . 234.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1020M|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.0709 -0.100 0.071 n . . . . . 3.516e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.003 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.213 . . 0.063 . . . . . . 0 . . . . . . 0.113 . 0.522 . LowAF 1 rs770028177 . . . . . . . . . . . . . . . . . . . . . . . . . 0.097 . . . 0 3.609e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.042 . . . . . . . . 1.0E-183 0.998 0.411 . 0.062 0.153 . 0.368 . 0.045 . -0.297 . . . . . 1 1538 10 1/0 0,191,255 +. 2 98128300 A G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution synonymous exon GRCh37 98128300 98128300 Chr2(GRCh37):g.98128300A>G 3021 3021 NM_025190.3:c.3021T>C p.Tyr1007= p.Tyr1007Tyr 39 216 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000522 0.000399 0.000000 0.000000 0.000000 0.000533 0.000905 0.000947 0.001178 0.000947 52 3 0 0 0 9 30 7 3 99534 7524 18008 3886 10138 16880 33160 7392 2546 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000060 0.000271 0.000000 2 0 0 0 0 0 1 1 0 48 3 0 0 0 9 28 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.079 1.416 Y Tyr TAT 0.438 Y Tyr TAC 0.562 1007 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.T3021C:p.Y1007Y . . 0.4976744 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 215.0 . . SYNONYMOUS_CODING(LOW|SILENT|taT/taC|Y1007|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.69 0.36 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0 0 0 0.0004 0.0004 0.0009 0.0005 0.0008 0.0024 0 0 0 0.0026 0.0040 0.0027 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79584453 rs200990159 1 1538 10 1/0 0,229,252 +. 2 98128313 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128313 98128313 Chr2(GRCh37):g.98128313G>A 3008 3008 NM_025190.3:c.3008C>T p.Thr1003Met p.Thr1003Met 39 203 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000031 0.000120 0.000000 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 0.000120 3 1 0 0 0 0 2 0 0 97800 8308 17220 3676 10032 16062 32888 7126 2488 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.386 1.739 T Thr ACG 0.116 M Met ATG 1.000 1003 12 9 Zebrafish -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0 II.84 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C3008T:p.T1003M . . 0.58208954 . . @ 117 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.133 . @ . . . . . 1 0.134 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1003M|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.3091 -0.064 0.309 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.61 0.29 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.459 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.899 . . 0.749 . . . . . . 0 . . . . . . 0.336 . 0.651 . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.311 . . . 0.0002 3.533e-05 0 0 0 0 7.272e-05 0 0 0 0 0 0 0 0 0 0 . . 0.042 . . . . . . . . 1.0E-255 0.996 0.391 . 0.100 0.349 . 0.455 . 0.070 . 0.697 . rs62156258 rs62156258 rs62156258 rs202131502 1 1538 10 1/0 0,239,254 +. 2 98128364 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128364 98128364 Chr2(GRCh37):g.98128364T>C 2957 2957 NM_025190.3:c.2957A>G p.His986Arg p.His986Arg 39 152 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 0.000026 0.000000 0.000000 0.000000 0.000223 0.000000 0.000000 0.000000 0.000000 0.000223 2 0 0 0 2 0 0 0 0 76108 10634 11678 1870 8964 9064 27446 4444 2008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.961 0.286 H His CAT 0.413 R Arg CGT 0.082 986 12 3 Olive baboon 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 264.55 0.00 Tolerated 0.55 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A2957G:p.H986R . . 0.6037736 . . @ 96 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.113 . . 159.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H986R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.2545 -0.088 0.254 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.53 0.3 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.170 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.291 . . 0.176 . . . . . . 0 . . . . . . 0.074 . 0.531 . HET 0.1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.267 . . . 0 1.71e-05 0 0 0.0001 0 0 0 0 0 5.677e-05 0 0 0.0008 0 0 0 . . 0.042 . . . . . . . . 1.0E-255 1.000 0.715 . 0.043 0.327 . 0.287 . 0.085 . 0.755 . rs62156257 rs62156257 rs62156257 rs200630019 1 1538 10 1/0 0,252,255 +rs370929832 2 98128387 G T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128387 98128387 Chr2(GRCh37):g.98128387G>T 2934 2934 NM_025190.3:c.2934C>A p.Asp978Glu p.Asp978Glu 39 129 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 rs370929832 no no 0 G 0.000000 0 transversion C A C>A 0.543 -0.037 D Asp GAC 0.539 E Glu GAA 0.417 978 12 7 Zebrafish 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 222.81 0.00 Tolerated 1 II.74 unknown 0.0 0.0 194 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.C2934A:p.D978E . . 0.144 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.122 . @ . . . . . 1 0.101 . . 125.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D978E|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1809 -0.103 0.181 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.159 @ . . . . . . ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.357 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.360 . . 0.292 . . . . . . 0 . . . . . . 0.032 . 0.628 . LowAF 0 rs370929832 . . . . . . . . . . . . . . . . . . . . . . . . . 0.168 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-194 1.000 0.715 . 0.191 0.213 . 0.215 . 0.281 . -0.287 . . . rs370929832 rs370929832 1 1538 10 1/0 0,221,255 +. 2 98128402 C A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128402 98128402 Chr2(GRCh37):g.98128402C>A 2919 2919 NM_025190.3:c.2919G>T p.Lys973Asn p.Lys973Asn 39 114 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transversion G T G>T 0.976 -0.037 K Lys AAG 0.575 N Asn AAT 0.464 973 12 7 Platypus 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 244.67 0.00 Tolerated 0.35 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.G2919T:p.K973N . . 0.57522124 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.195 . @ . . . . . 1 0.127 . . 113.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K973N|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.5028 -0.053 0.503 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.154 @ . . . 0.6 0.35 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.214 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.211 . . 0.112 . . . . . . 0 . . . . . . 0.071 . 0.428 . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.244 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 1.000 0.715 . 0.264 0.788 . 0.317 . 0.278 . -0.122 . . . rs75433754 rs111605455 1 1538 10 1/0 0,255,255 +. 2 98128421 T C - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128421 98128421 Chr2(GRCh37):g.98128421T>C 2900 2900 NM_025190.3:c.2900A>G p.Lys967Arg p.Lys967Arg 39 95 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.09631 0 transition A G A>G 0.299 0.044 K Lys AAA 0.425 R Arg AGA 0.205 967 12 6 Chicken 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 258.92 0.00 Tolerated 0.69 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A2900G:p.K967R . . 0.49514562 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.118 . @ . . . . . 1 0.149 . . 103.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K967R|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.3779 -0.074 0.378 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.143 @ . . . 0.51 0.39 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.420 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.206 . . 0.162 . . . . . . 0 . . . . . . 0.094 . 0.088 . HET 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.149 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 1.000 0.715 . 0.175 0.689 . 0.246 . 0.084 . -0.247 . . . rs78091509 rs112192400 1 1538 10 1/0 0,255,255 +. 2 98128449 T A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128449 98128449 Chr2(GRCh37):g.98128449T>A 2872 2872 NM_025190.3:c.2872A>T p.Arg958Trp p.Arg958Trp 39 67 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 8.42702 0 Cryptic Acceptor Strongly Activated 98128441 0.003258 1.56539 0.041127 78.0176 transversion A T A>T 0.890 0.528 R Arg AGG 0.207 W Trp TGG 1.000 958 12 2 Chimp -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 257.76 46.61 Tolerated 0.19 II.74 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . ANKRD36B:NM_025190:exon39:c.A2872T:p.R958W . . 0.5 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.025 . . 112.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R958W|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1510 -0.119 0.151 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.213 @ . . . 0.56 0.37 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.583 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.370 . . 0.277 . . . . . . 0 . . . . . . 0.062 . 0.245 . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.145 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.676 0.282 . 0.198 0.926 . 0.272 . 0.281 . 0.755 . . rs72931734 rs72931734 rs201852435 1 1538 10 1/0 0,255,255 +. 2 98128472 C A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128472 98128472 Chr2(GRCh37):g.98128472C>A 2849 2849 NM_025190.3:c.2849G>T p.Arg950Leu p.Arg950Leu 39 44 3' 88.2848 9.57438 0.983397 8.09631 88.2848 9.57438 0.983397 7.40937 0 transversion G T G>T 0.394 -0.360 R Arg CGC 0.190 L Leu CTC 0.197 950 12 3 Zebrafish -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 353.86 0.00 Tolerated 0.29 II.75 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . ANKRD36B:uc010yvc.1:exon39:c.G2849T:p.R950L ANKRD36B:NM_025190:exon39:c.G2849T:p.R950L . . 0.35164836 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.017 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R950L|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . -0.1625 -0.168 -0.163 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.055 @ . . . 0.55 0.28 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.294 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.243 . . 0.127 . . . . . . 0 . . . . . . 0.186 . 0.230 . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.175 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.970 0.340 . 0.167 0.012 . 0.346 . 0.018 . -1.026 . . rs71258079 rs71258079 rs200057888 1 1538 10 1/0 0,253,255 +. 2 98128515 C T - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98128515 98128515 Chr2(GRCh37):g.98128515C>T 2806 2806 NM_025190.3:c.2806G>A p.Val936Ile p.Val936Ile 39 1 3' 88.2848 9.57438 0.983397 8.09631 84.3739 8.41276 0.973137 7.03174 -0.0586857 transition G A G>A 0.992 -0.037 V Val GTT 0.178 I Ile ATT 0.356 936 12 5 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.8 II.75 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . ANKRD36B:uc010yvc.1:exon39:c.G2806A:p.V936I ANKRD36B:NM_025190:exon39:c.G2806A:p.V936I . . 0.54320985 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.016 . . 81.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V936I|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.39) . . . . . . . 0.1787 -0.110 0.179 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.110 @ . . . 0.38 0.15 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 0 . . . . . . 0.300 . 0.140 . HET 0.13 . . . . . . . . . . . . . . . . . . . . . 0.0001 0.03 . . . 0.231 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-255 0.874 0.306 . 0.108 0.146 . 0.111 . 0.020 . -0.512 . . . rs75682686 rs113949773 1 1538 10 1/0 0,255,255 +rs79762068 2 98128520 G A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution splice site GRCh37 98128520 98128520 Chr2(GRCh37):g.98128520G>A 2806-5 2806-5 NM_025190.3:c.2806-5C>T p.? p.? 39 38 -5 3' 88.2848 9.57438 0.983397 8.09631 91.8304 10.827 0.988016 7.97177 0.0585634 Cryptic Acceptor Weakly Activated 98128515 9.57438 0.983397 88.2848 10.827 0.988016 91.8304 rs79762068 no no 0 G 0.000000 0 transition C T C>T 0.992 0.609 255 PASS . . . . . . . . . . . . . . . . 0.53846157 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . 0.2799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.37 0.12 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79762068 rs200446433 1 1538 10 1/0 0,255,255 +. 2 98128531 C A - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution intron GRCh37 98128531 98128531 Chr2(GRCh37):g.98128531C>A 2806-16 2806-16 NM_025190.3:c.2806-16G>T p.? p.? 39 38 -16 3' 88.2848 9.57438 0.983397 8.09631 88.2848 10.1142 0.990715 9.02839 0.0212747 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 126772 8888 15436 5710 10662 18078 50860 14200 2938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes transversion G T G>T 0.024 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.5394737 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . INTRON(MODIFIER||||ANKRD36B|mRNA|CODING|NM_025190|) . . . . . . . -0.5212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.33 0.08 182 ENSG00000196912 ANKRD36B ANKRD36B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.888e-06 0 0 0 0 1.966e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76238768 rs201193319 1 1538 10 1/0 0,255,255 +rs3731921 2 98160442 C G - ANKRD36B 29333 Ankyrin repeat domain 36B NM_025190.3 -1 5986 4062 NP_079466.3 Q8N2N9 substitution missense exon GRCh37 98160442 98160442 Chr2(GRCh37):g.98160442C>G 1688 1688 NM_025190.3:c.1688G>C p.Cys563Ser p.Cys563Ser 25 7 3' 91.118 9.22546 0.954817 6.03346 91.118 9.22546 0.936377 5.80964 -0.00643753 Cryptic Acceptor Strongly Activated 98160437 2.74902 0.698647 4.53271 0.934238 rs3731921 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000800 0.001000 0.002000 0.000000 0.000000 0.001482 0.001456 0.002875 0.000000 0.001187 0.000585 0.001116 0.010345 0.001064 0.010345 48 6 18 0 7 3 10 3 1 32396 4120 6260 802 5896 5124 8964 290 940 0.000741 0.000485 0.001597 0.000000 0.000678 0.000000 0.000669 0.006897 0.000000 12 1 5 0 2 0 3 1 0 24 4 8 0 3 3 4 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.004 -0.440 C Cys TGT 0.448 S Ser TCT 0.185 563 12 1 -1 -1 -2 II.75 I.42 5.V 9.II 55 32 112 C0 353.86 0.00 Tolerated 0.82 II.76 unknown 0.0 0.0 255 PASS . . . . . 0.0008 0.0008 . 0.002 . 0.001 . ANKRD36B:uc010yvc.1:exon25:c.G1688C:p.C563S ANKRD36B:NM_025190:exon25:c.G1688C:p.C563S . . 0.6875 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.024 . . 16.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C563S|ANKRD36B|mRNA|CODING|NM_025190|NM_025190.ex.25) . . . . . . . -0.3467 -0.210 -0.347 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.156 0.0008 . . . 0.49 0.15 182 ENSG00000196912 ANKRD36B ANKRD36B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.019 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 . . . . . . . . 0.146 . HET 0.8 rs200033395 . . . . . . . . . . . . . . . . . . . . . . . . . 0.001 . . . 0.0014 0.0014 0.0029 0 0.0012 0.0090 0.0010 0.0011 0.0006 0.0020 0.0027 0 0 0 0.0147 0.0028 0 . . 0.016 . . . . . . . . 1.0E-255 0.371 0.257 . 0.108 0.033 . 0.263 . 0.069 . -1.754 . rs3731921 rs3731921 rs3731921 rs200033395 1 1538 10 1/0 0,255,255 +. 2 98429067 C T - TMEM131 30366 Transmembrane protein 131 NM_015348.1 -1 6644 5652 NP_056163.1 substitution intron GRCh37 98429067 98429067 Chr2(GRCh37):g.98429067C>T 1728+35 1728+35 NM_015348.1:c.1728+35G>A p.? p.? 16 16 615659 35 5' 79.4649 7.30369 0.975116 0 79.4649 7.30369 0.975116 0 0 New Acceptor Site 98429065 3.30888 0.002105 67.1969 transition G A G>A 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||TMEM131|mRNA|CODING|NM_015348|) . . . . . . . 0.5286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000075568 TMEM131 TMEM131 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv222n21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 105953939 A AA - C2orf49 28772 Chromosome 2 open reading frame 49 NM_024093.2 1 4371 699 NP_076998.1 Q9BVC5 duplication 5'UTR GRCh37 105953939 105953940 Chr2(GRCh37):g.105953939dup -106 -106 NM_024093.2:c.-106dup p.? p.? 1 -204 5' 75.025 5.26343 0.183935 7.83723 75.025 5.26343 0.183935 7.83723 0 A 255 Pass . . . . . . . . . . . ENSG00000135974:ENST00000437250:exon1:c.9dupA:p.R3fs . . . . 0.94827586 . . . 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . . exonic upstream UTR5 . . . . . . . . . . ENSG00000135974 C2orf49 C2orf49 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,2,2 +rs370254318 2 106810713 G C - UXS1 17729 UDP-glucuronate decarboxylase 1 NM_001253875.1 -1 2099 1278 NP_001240804.1 substitution 5'UTR GRCh37 106810713 106810713 Chr2(GRCh37):g.106810713G>C -16 -16 NM_001253875.1:c.-16C>G p.? p.? 1 609749 -110 5' 74.1084 7.21055 0.817087 9.39253 74.1084 7.21055 0.817087 9.39253 0 rs370254318 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001527 0.000000 0.000276 0.000000 0.000000 0.000000 0.003070 0.002658 0.001000 0.003070 161 0 4 0 0 0 129 25 3 105442 9528 14470 6754 3906 16354 42024 9406 3000 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000425 0.000000 2 0 0 0 0 0 0 2 0 157 0 4 0 0 0 129 21 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4612 2134 6746 6 0 6 0.00129926 0 0.000888626 0.00129926 0 0.000888626 6 transversion C G C>G 0.953 -0.440 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.5294118 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 68.0 . . . . 0.0009 0.0013 . 0.0009 0.0013 . I.08 . . . . . . . . 5.453e-04 . . . 0 0.0007 0 0 0 0.0023 0 0 0 0.0004 0 0 0 0.0014 0 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0004 . . . 0.49 0.41 182 ENSG00000115652 UXS1 UXS1 . . . . . . 47 0.000723344 64976 45 0.000750175 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370254318 . . . . . . . . . . . . . . . . . . . . . . . 0.000889 . . . . . 0 0.0011 0.0003 0 0 0.0023 0.0023 0.0005 0 0 0.0027 0 0 0 0.0038 0.0046 0.0023 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs370254318 rs370254318 1 1538 10 1/0 0,255,255 +rs553360699 2 107049494 A C - RGPD3 32416 RANBP2-like and GRIP domain containing 3 NM_001144013.1 -1 5873 5277 NP_001137485.1 substitution intron GRCh37 107049494 107049494 Chr2(GRCh37):g.107049494A>C 2386-20 2386-20 NM_001144013.1:c.2386-20T>G p.? p.? 17 16 612706 -20 3' 86.9879 8.11156 0.993323 8.86672 86.9879 7.74854 0.990754 8.95539 -0.0157802 rs553360699 yes no Frequency/1000G 2 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000098 0.000994 0.000029 0.000000 0.000000 0.000000 0.000016 0.000000 0.000156 0.000994 27 23 1 0 0 0 2 0 1 274820 23150 34304 10124 18810 30498 125918 25594 6422 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 23 1 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.008 1.255 194 PASS . . . . . 0.0023 0.0006 . . . . . . . . . 0.14444445 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . INTRON(MODIFIER||||RGPD3|mRNA|CODING|NM_001144013|) . . . . . . . -0.1043 . . . . . . . . 7.932e-06 . . . 0.0001 1.114e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.47 0.24 182 ENSG00000153165 RGPD3 RGPD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs553360699 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2720482 . . . . . . 0.0010 7.767e-05 2.986e-05 0 0 0 1.801e-05 0.0002 0 0.0010 0.0003 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs2556280 rs2556280 rs2556280 rs2556280 1 1538 10 1/0 0,234,255 +rs201309146 2 107074037 C T - RGPD3 32416 RANBP2-like and GRIP domain containing 3 NM_001144013.1 -1 5873 5277 NP_001137485.1 substitution missense exon GRCh37 107074037 107074037 Chr2(GRCh37):g.107074037C>T 238 238 NM_001144013.1:c.238G>A p.Val80Ile p.Val80Ile 3 612706 -15 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 Tetratricopeptide TPR-1 Tetratricopeptide TPR2 Tetratricopeptide repeat Tetratricopeptide repeat-containing rs201309146 yes no Frequency 1 0.000000 0 0.000244 0.000000 0.000000 0.000000 0.000155 0.000206 0.000424 0.000000 0.000984 0.000424 17 0 0 0 1 1 13 0 2 69584 13228 7120 1384 6466 4854 30686 3814 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 0 0 1 1 13 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 0.932 V Val GTT 0.178 I Ile ATT 0.356 80 13 9 Tetraodon 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 III.69 bad 3.094E-3 0.0001315 220 PASS . . . . . . . . . . . . RGPD3:uc010ywi.1:exon3:c.G238A:p.V80I RGPD3:NM_001144013:exon3:c.G238A:p.V80I . . 0.21428572 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.408 . @ . . . . . 1 0.495 . . 98.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V80I|RGPD3|mRNA|CODING|NM_001144013|NM_001144013.ex.3) . . . . . . . -0.6902 -0.776 -0.690 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.576 . . exonic exonic exonic . . 0.216 @ . . . 0.28 0.2 182 ENSG00000153165 RGPD3 RGPD3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.283 0.011 . . 37 . 0.527 . . 0.447 . . . 0.543 0.234 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.123 . . 0 0 0 0 0 0 . 0.670 . . 0.745 . . . . . . 0 0.209 . . . . . 0.335 . 0.200 . HET 0.19 rs201309146 . . . . . . . . . . . . VIII.02 . . II.36 I.45 . 0.090000 A6NKT7 . . . . . 0.381 . . . 0 0.0003 0 0 0.0002 0 0.0005 0.0009 0.0002 0 0.0002 0 0 0 0 0.0004 0.0011 . . 0.246 . -0.036 -0.036000 . . 0.090000 . . 1.0E-220 1.000 0.715 . 0.442 0.974 . 0.474 . 0.103 -0.036 0.002 . . . rs201309146 rs201309146 1 1538 10 1/0 0,237,255 +rs2228020 2 107123395 G A - CD8BP 1708 CD8b molecule pseudogene NM_001349727.1 1 4859 633 NP_001336656.1 P10966 substitution synonymous exon GRCh37 107123395 107123395 Chr2(GRCh37):g.107123395G>A 632 632 NM_001349727.1:c.632G>A p.*211= p.*211* 6 12 3' 86.4066 9.35638 0.894962 9.20481 86.4066 9.35638 0.841882 VIII.39 -0.0197699 rs2228020 no no 0 0.000000 0 transition G A G>A 0.843 1.739 * * TGA 0.489 * * TAA 0.277 211 194 PASS . . . . . . . . . . . . . . . . 0.14545454 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.8057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.41 0.45 182 ENSG00000254126 . . . dist\x3d38594\x3bdist\x3d294661 dist\x3d38594\x3bdist\x3d294661 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.43 rs2228020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs2228020 rs2228020 rs2228020 rs2228020 1 1538 10 1/0 0,255,255 +rs537109343 2 107123447 C T - CD8BP 1708 CD8b molecule pseudogene NM_001349727.1 1 4859 633 NP_001336656.1 P10966 substitution 3'UTR GRCh37 107123447 107123447 Chr2(GRCh37):g.107123447C>T *51 *51 NM_001349727.1:c.*51C>T p.? p.? 6 64 3' 86.4066 9.35638 0.894962 9.20481 86.4066 9.35638 0.894962 8.58722 0 rs537109343 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30886 8718 838 302 1618 0 14938 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transition C T C>T 0.000 -1.570 194 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.14545454 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic intergenic . . . 0.0002 . . . 0.49 0.43 182 ENSG00000254126 . . . dist\x3d38646\x3bdist\x3d294609 dist\x3d38646\x3bdist\x3d294609 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs537109343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.238e-05 0 0 0 0 6.694e-05 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs57583632 rs57583632 rs57583632 rs57583632 1 1538 10 1/0 0,255,255 +rs781675271 2 108454675 T C - RGPD4 32417 RANBP2-like and GRIP domain containing 4 NM_182588.2 1 7172 5277 NP_872394.2 substitution intron GRCh37 108454675 108454675 Chr2(GRCh37):g.108454675T>C 141-38 141-38 NM_182588.2:c.141-38T>C p.? p.? 3 2 612707 -38 3' 75.4096 4.26603 0.006319 1.18562 75.4096 4.26603 0.006319 1.30692 0 108454677 -24.7594 rs781675271 no no 0 T 0.000000 0 0.000342 0.008065 0.000000 0.000000 0.000000 0.000000 0.000923 0.000000 0.000000 0.008065 2 1 0 0 0 0 1 0 0 5856 124 1518 78 2020 708 1084 178 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.425 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||RGPD4|mRNA|CODING|NM_182588|) . . . . . . . 0.1886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.13 182 ENSG00000196862 RGPD4 RGPD4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781675271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0135 0.0002 0 0 0 0 0 0 0 0 0.0011 0 0 0 0 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62152533 rs62152533 rs62152533 rs62152533 1 1538 10 1/0 0,255,255 +. 2 108454810 G A - RGPD4 32417 RANBP2-like and GRIP domain containing 4 NM_182588.2 1 7172 5277 NP_872394.2 substitution missense exon GRCh37 108454810 108454810 Chr2(GRCh37):g.108454810G>A 238 238 NM_182588.2:c.238G>A p.Val80Ile p.Val80Ile 3 612707 -15 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 Tetratricopeptide TPR-1 Tetratricopeptide TPR2 Tetratricopeptide repeat Tetratricopeptide repeat-containing 0.000101 0.000000 0.000467 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000467 1 0 1 0 0 0 0 0 0 9872 282 2140 174 3516 950 2484 90 236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 56 Exomes transition G A G>A 1.000 1.739 V Val GTT 0.178 I Ile ATT 0.356 80 11 7 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.07 IV.32 good 8.229E-2 0.002002 245 PASS . . . . . . . . . . . . RGPD4:uc010ywk.2:exon3:c.G238A:p.V80I RGPD4:NM_182588:exon3:c.G238A:p.V80I . . 0.29166666 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.472 . @ . . . . . 1 0.408 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V80I|RGPD4|mRNA|CODING|NM_182588|NM_182588.ex.3) . . . . . . . -0.1988 -0.195 -0.199 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.576 . . exonic exonic exonic . . 0.280 @ . . . . . . ENSG00000196862 RGPD4 RGPD4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.272 0.010 . . 37 . 0.338 . . 0.114 . . . 0.543 0.241 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.123 . . 0 0 0 0 0 0 . 0.405 . . 0.366 . . . . . . 0 0.398 . . . . . 0.310 . 0.311 . HET 0.19 . . . . . . . . . . . . . VIII.77 . . II.35 II.35 . 0.140000 Q7Z3J3 . . . . . 0.440 . . II.35 0 0.0001 0.0005 0 0 0 0 0 0 . . . . . . . . . . 0.246 . 1.313 1.313000 . . 0.140000 . . 1.0E-245 1.000 0.715 . 0.562 0.994 . 0.614 . 0.298 1.313 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 2 108459658 G A - RGPD4 32417 RANBP2-like and GRIP domain containing 4 NM_182588.2 1 7172 5277 NP_872394.2 substitution missense exon GRCh37 108459658 108459658 Chr2(GRCh37):g.108459658G>A 599 599 NM_182588.2:c.599G>A p.Ser200Asn p.Ser200Asn 5 612707 -38 5' 77.4611 7.24055 0.833949 1.16114 77.4611 7.24055 0.833949 1.22646 0 Cryptic Acceptor Strongly Activated 108459664 1.75697 0.025564 6.03775 0.016899 67.1994 transition G A G>A 0.969 0.367 S Ser AGT 0.149 N Asn AAT 0.464 200 11 7 Chicken 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.24 IV.32 good 6.239E-1 0.00882 207 PASS . . . . . . . . . . . . RGPD4:uc010ywk.2:exon5:c.G599A:p.S200N RGPD4:NM_182588:exon5:c.G599A:p.S200N . . 0.17948718 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.284 . . 78.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S200N|RGPD4|mRNA|CODING|NM_182588|NM_182588.ex.5) . . . . . . . -0.5187 -0.506 -0.519 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.175 @ . . . . . . ENSG00000196862 RGPD4 RGPD4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.080 0.003 . . 37 . 0.268 . . 0.252 . . . 0.435 0.215 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.320 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.207 . . . . . 0.172 . 0.009 . HET 0.05 . . . . . . . . . . . . . V.54 . . II.65 0.752 . 0.130000 Q7Z3J3 . . . . . 0.369 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.057 -0.057000 . . 0.130000 . . 1.0E-207 1.000 0.715 . 0.888 0.998 . 0.560 . 0.297 -0.057 0.917 . . . . . 1 1538 10 1/0 0,244,255 +rs56186549 2 109237865 C T - LIMS1 6616 LIM and senescent cell antigen-like domains 1 NM_001193485.2 1 4674 1164 NP_001180414.1 substitution upstream GRCh37 109237865 109237865 Chr2(GRCh37):g.109237865C>T -33666 -33666 NM_001193485.2:c.-33666C>T p.? p.? 1 602567 -33848 5' 74.2049 7.35335 0.931542 4.56695 74.2049 7.35335 0.931542 4.56695 0 Cryptic Acceptor Strongly Activated 109237882 0.458104 0.001403 62.2254 0.854099 0.002873 62.2254 rs56186549 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001277 0.000321 0.000810 0.000000 0.000085 0.000089 0.002663 0.000344 0.001856 0.002663 225 5 20 0 1 2 181 7 9 176202 15574 24696 8436 11754 22594 67970 20328 4850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 225 5 20 0 1 2 181 7 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 1.335 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . LIMS1:uc002tej.3:exon1:c.C55T:p.R19X LIMS1:NM_001193484:exon1:c.C55T:p.R19X . . 0.32323232 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.960 . @ . . . . . 0 0.713 . . 99.0 . . . . . . . . . . 0.2608 0.053 0.261 c . . . . . 7.330e-04 . . . 0.0009 0.0008 0 0 0.0128 0.0019 0 0 0.0016 0.0005 0 0 0.0006 0.0015 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.366 0.0004 . . . 0.55 0.53 182 ENSG00000169756 LIMS1 LIMS1 . . . 1.000 0.747 . 107 0.00164676 64976 105 0.00175041 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . 0.539 . . . HET 1 rs56186549 0.011 0.007 . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 XII.11 . ENST00000409441 5.XII III.29 . 0.890000 . . . . . . 0.317 . . III.29 0.0004 0.0012 0.0007 0 9.87e-05 0.0004 0.0026 0.0021 8.852e-05 0.0002 0.0015 0.0036 0 0 0 0.0027 0.0010 . . 0.878 . 0.700 0.700000 . . 0.890000 . . 1.0E-255 1.000 0.715 . 0.228 0.996 . 0.308 . 0.133 0.700 0.871 0.011 rs56186549 rs56186549 rs56186549 rs56186549 1 1538 10 1/0 0,247,255 +. (chr2:110559333 G/A) 2 110559333 G A Not on a known gene +. (chr2:110561152 G/A) 2 110561152 G A Not on a known gene +. (chr2:110571208 A/G) 2 110571208 A G Not on a known gene +. (chr2:110577262 A/G) 2 110577262 A G Not on a known gene +rs3960693 (chr2:110581913 G/A) 2 110581913 G A Not on a known gene +. (chr2:110585506 G/A) 2 110585506 G A Not on a known gene +. (chr2:110585652 A/G) 2 110585652 A G Not on a known gene +. (chr2:110593829 C/G) 2 110593829 C G Not on a known gene +rs2438882 (chr2:110602879 C/T) 2 110602879 C T Not on a known gene +rs1061211 (chr2:110613537 C/T) 2 110613537 C T Not on a known gene +. (chr2:110613566 G/A) 2 110613566 G A Not on a known gene +rs892759 (chr2:110663608 A/G) 2 110663608 A G Not on a known gene +. (chr2:110663611 A/G) 2 110663611 A G Not on a known gene +rs163642 2 110844047 C T - MALL 6818 Mal, T-cell differentiation protein-like NM_005434.4 -1 3061 462 NP_005425.1 Q13021 substitution intron GRCh37 110844047 110844047 Chr2(GRCh37):g.110844047C>T 400-713 400-713 NM_005434.4:c.400-713G>A p.? p.? 4 3 602022 -713 3' 79.033 8.85941 0.924326 X.16 79.033 8.85941 0.924326 X.16 0 rs163642 yes no Frequency/HapMap/1000G 3 C 0.000000 0 transition G A G>A 0.000 -0.360 222 PASS . . . . . . . . . . . . . . . . 0.2184874 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.3751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.58 0.43 182 ENSG00000264979 MIR4436B1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs116669122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs163642 rs163642 rs163642 rs116669122 1 1538 10 1/0 0,230,255 +rs163642 2 110844047 C T - MIR4436B1 41587 MicroRNA 4436b-1 NR_039941.1 -1 91 0 substitution exon GRCh37 110844047 110844047 Chr2(GRCh37):g.110844047C>T 54 54 NR_039941.1:n.54G>A 1 rs163642 yes no Frequency/HapMap/1000G 3 C 0.000000 0 transition G A G>A 0.000 -0.360 222 PASS . . . . . . . . . . . . . . . . 0.2184874 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.3751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.58 0.43 182 ENSG00000264979 MIR4436B1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs116669122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs163642 rs163642 rs163642 rs116669122 1 1538 10 1/0 0,230,255 +rs163642 2 110844047 C T - MIR4436B2 43451 MicroRNA 4436b-2 NR_049830.1 -1 91 0 substitution exon GRCh37 110844047 110844047 Chr2(GRCh37):g.110844047C>T 54 54 NR_049830.1:n.54G>A 1 rs163642 yes no Frequency/HapMap/1000G 3 C 0.000000 0 transition G A G>A 0.000 -0.360 222 PASS . . . . . . . . . . . . . . . . 0.2184874 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.3751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.58 0.43 182 ENSG00000264979 MIR4436B1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs116669122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs163642 rs163642 rs163642 rs116669122 1 1538 10 1/0 0,230,255 +. 2 110873470 G A - MALL 6818 Mal, T-cell differentiation protein-like NM_005434.4 -1 3061 462 NP_005425.1 Q13021 substitution 5'UTR GRCh37 110873470 110873470 Chr2(GRCh37):g.110873470G>A -101 -101 NM_005434.4:c.-101C>T p.? p.? 1 602022 -206 5' 87.1266 10.0978 0.983417 13.9028 87.1266 10.0978 0.983417 13.9028 0 0.000987 0.000569 0.000000 0.000000 0.000000 0.000000 0.000797 0.007353 0.001667 0.007353 22 4 0 0 0 0 9 8 1 22290 7036 514 250 1506 0 11296 1088 600 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 41 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.992 1.497 190 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . UTR_5_PRIME(MODIFIER||||MALL|mRNA|CODING|NM_005434|NM_005434.ex.1) . . . . . . . I.85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000144063 MALL MALL . uc002tfk.3:c.-101C>T NM_005434:c.-101C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.81 . . . . . . . . . 0.0006 0.0010 0 0 0 0.0074 0.0008 0.0017 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr2:111042483 G/A) 2 111042483 G A Not on a known gene +rs796267621 (chr2:111058957 A/G) 2 111058957 A G Not on a known gene +. (chr2:111212606 A/G) 2 111212606 A G Not on a known gene +. 2 111223050 T C - LIMS3 30047 LIM and senescent cell antigen-like domains 3 NM_033514.4 -1 1216 354 NP_277049.1 Q9HB10 substitution 3'UTR GRCh37 111223050 111223050 Chr2(GRCh37):g.111223050T>C *143 *143 NM_033514.4:c.*143A>G p.? p.? 3 155 3' 71.2032 6.37761 0.164195 4.27964 71.2032 6.37761 0.164195 4.27964 0 transition A G A>G 0.890 1.013 223 PASS . . . . . . . . . . . . . . . . 0.22274882 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 211.0 . . . . . . . . . . 0.5996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_intronic . . . @ . . . . . . ENSG00000256671 LIMS3 LIMS3-LOC440895 ENST00000413601:c.*143A>G uc002tfw.3:c.*143A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +. 2 111223050 T C - LIMS4 39941 LIM zinc finger domain containing 4 NM_001205288.1 -1 1216 354 NP_001192217.1 P0CW20 substitution 3'UTR GRCh37 111223050 111223050 Chr2(GRCh37):g.111223050T>C *143 *143 NM_001205288.1:c.*143A>G p.? p.? 3 155 3' 71.2032 6.37761 0.164195 4.27964 71.2032 6.37761 0.164195 4.27964 0 transition A G A>G 0.890 1.013 223 PASS . . . . . . . . . . . . . . . . 0.22274882 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 211.0 . . . . . . . . . . 0.5996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_intronic . . . @ . . . . . . ENSG00000256671 LIMS3 LIMS3-LOC440895 ENST00000413601:c.*143A>G uc002tfw.3:c.*143A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +. 2 111223053 T C - LIMS3 30047 LIM and senescent cell antigen-like domains 3 NM_033514.4 -1 1216 354 NP_277049.1 Q9HB10 substitution 3'UTR GRCh37 111223053 111223053 Chr2(GRCh37):g.111223053T>C *140 *140 NM_033514.4:c.*140A>G p.? p.? 3 152 3' 71.2032 6.37761 0.164195 4.27964 71.2032 6.37761 0.164195 4.27964 0 transition A G A>G 0.480 -0.279 239 PASS . . . . . . . . . . . . . . . . 0.2706422 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 218.0 . . . . . . . . . . -0.0007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_intronic . . . @ . . . 0.54 0.69 182 ENSG00000256671 LIMS3 LIMS3-LOC440895 ENST00000413601:c.*140A>G uc002tfw.3:c.*140A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs892759 rs892759 rs892759 rs892759 1 1538 10 1/0 0,208,255 +. 2 111223053 T C - LIMS4 39941 LIM zinc finger domain containing 4 NM_001205288.1 -1 1216 354 NP_001192217.1 P0CW20 substitution 3'UTR GRCh37 111223053 111223053 Chr2(GRCh37):g.111223053T>C *140 *140 NM_001205288.1:c.*140A>G p.? p.? 3 152 3' 71.2032 6.37761 0.164195 4.27964 71.2032 6.37761 0.164195 4.27964 0 transition A G A>G 0.480 -0.279 239 PASS . . . . . . . . . . . . . . . . 0.2706422 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 218.0 . . . . . . . . . . -0.0007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_intronic . . . @ . . . 0.54 0.69 182 ENSG00000256671 LIMS3 LIMS3-LOC440895 ENST00000413601:c.*140A>G uc002tfw.3:c.*140A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs892759 rs892759 rs892759 rs892759 1 1538 10 1/0 0,208,255 +. 2 111273095 C T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution 3'UTR GRCh37 111273095 111273095 Chr2(GRCh37):g.111273095C>T *93 *93 NM_005054.2:c.*93G>A p.? p.? 23 612708 128 3' 81.7918 5.90716 0.701387 8.50166 81.7918 5.90716 0.701387 8.50166 0 Cryptic Donor Strongly Activated 111273094 1.29679 0.002374 63.8882 2.60254 0.084369 72.849 transition G A G>A 0.000 0.205 229 PASS . . . . . . . . . . . . . . . . 0.29473683 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.4469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.65 0.78 182 ENSG00000183054 RGPD6 . ENST00000329516:c.*93G>A uc021vmh.1:c.*93G>A NM_005054:c.*93G>A\x3bNM_001123363:c.*93G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs1061214 rs1061214 rs1061214 rs1061214 1 1538 10 1/0 0,247,255 +. 2 111273095 C T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution 3'UTR GRCh37 111273095 111273095 Chr2(GRCh37):g.111273095C>T *93 *93 NM_001123363.3:c.*93G>A p.? p.? 24 612709 128 3' 81.7918 5.90716 0.701387 8.50166 81.7918 5.90716 0.701387 8.50166 0 Cryptic Donor Strongly Activated 111273094 1.29679 0.002374 63.8882 2.60254 0.084369 72.849 transition G A G>A 0.000 0.205 229 PASS . . . . . . . . . . . . . . . . 0.29473683 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.4469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.65 0.78 182 ENSG00000183054 RGPD6 . ENST00000329516:c.*93G>A uc021vmh.1:c.*93G>A NM_005054:c.*93G>A\x3bNM_001123363:c.*93G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs1061214 rs1061214 rs1061214 rs1061214 1 1538 10 1/0 0,247,255 +. 2 111273124 G A - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution 3'UTR GRCh37 111273124 111273124 Chr2(GRCh37):g.111273124G>A *64 *64 NM_005054.2:c.*64C>T p.? p.? 23 612708 99 3' 81.7918 5.90716 0.701387 8.50166 81.7918 5.90716 0.701387 8.50166 0 Cryptic Acceptor Strongly Activated 111273117 2.90711 0.004733 66.797 3.47638 0.011564 68.3077 transition C T C>T 0.677 0.367 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . 0.2747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.79 182 ENSG00000183054 RGPD6 . ENST00000329516:c.*64C>T uc021vmh.1:c.*64C>T NM_005054:c.*64C>T\x3bNM_001123363:c.*64C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1061211 rs1061211 rs1061211 rs1061211 1 1538 10 1/0 0,255,255 +. 2 111273124 G A - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution 3'UTR GRCh37 111273124 111273124 Chr2(GRCh37):g.111273124G>A *64 *64 NM_001123363.3:c.*64C>T p.? p.? 24 612709 99 3' 81.7918 5.90716 0.701387 8.50166 81.7918 5.90716 0.701387 8.50166 0 Cryptic Acceptor Strongly Activated 111273117 2.90711 0.004733 66.797 3.47638 0.011564 68.3077 transition C T C>T 0.677 0.367 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . 0.2747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.79 182 ENSG00000183054 RGPD6 . ENST00000329516:c.*64C>T uc021vmh.1:c.*64C>T NM_005054:c.*64C>T\x3bNM_001123363:c.*64C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1061211 rs1061211 rs1061211 rs1061211 1 1538 10 1/0 0,255,255 +. 2 111283782 G A - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution intron GRCh37 111283782 111283782 Chr2(GRCh37):g.111283782G>A 5061+60 5061+60 NM_005054.2:c.5061+60C>T p.? p.? 21 21 612708 60 5' 90.0021 8.68007 0.98652 2.84677 90.0021 8.68007 0.98652 II.03 0 transition C T C>T 0.000 -1.005 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.5693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.35 182 ENSG00000183054 RGPD6 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs2438882 rs2438882 rs2438882 rs2438882 1 1538 10 1/0 0,255,255 +. 2 111283782 G A - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution intron GRCh37 111283782 111283782 Chr2(GRCh37):g.111283782G>A 5061+60 5061+60 NM_001123363.3:c.5061+60C>T p.? p.? 22 22 612709 60 5' 90.0021 8.68007 0.98652 2.84677 90.0021 8.68007 0.98652 II.03 0 transition C T C>T 0.000 -1.005 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.5693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.35 182 ENSG00000183054 RGPD6 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv510884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs2438882 rs2438882 rs2438882 rs2438882 1 1538 10 1/0 0,255,255 +. 2 111292832 G C - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution missense exon GRCh37 111292832 111292832 Chr2(GRCh37):g.111292832G>C 3131 3131 NM_005054.2:c.3131C>G p.Pro1044Arg p.Pro1044Arg 20 612708 434 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 transversion C G C>G 1.000 4.079 P Pro CCT 0.283 R Arg CGT 0.082 1044 13 10 Tetraodon -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0 III.68 bad 2.363E-6 0.0001609 194 PASS . . . . . . . . . . . ENSG00000183054:ENST00000329516:exon20:c.C3131G:p.P1044R . . . . 0.14285715 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.653 . @ . . . . . 1 0.818 . . 245.0 . . . . . . . . . . 0.1794 0.151 0.179 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.279 @ . . . 0.52 0.39 182 ENSG00000183054 . . . . . 0.180 0.179 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.495 0.026 . . 37 . 0.558 . . 0.602 . . . 0.886 0.420 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.912 . . . . . 0.432 . 0.736 . LowAF 0 . . . . . . . . . . . . . X.19 . ENST00000329516 II.33 II.33 . 0.010000 . . . Name\x3dnsv510884 . . 0.751 . . II.33 . . . . . . . . . . . . . . . . . . . 0.428 . 1.309 1.309000 . . 0.010000 . . 1.0E-194 1.000 0.715 . 0.562 0.998 . 0.982 . 0.297 1.309 0.913 . rs2464067 rs2464067 rs2464067 rs2464067 1 1538 10 1/0 0,191,255 +. 2 111292832 G C - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution missense exon GRCh37 111292832 111292832 Chr2(GRCh37):g.111292832G>C 3131 3131 NM_001123363.3:c.3131C>G p.Pro1044Arg p.Pro1044Arg 21 612709 434 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 Ran binding protein 1 transversion C G C>G 1.000 4.079 P Pro CCT 0.283 R Arg CGT 0.082 1044 13 10 Tetraodon -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0 III.68 bad 2.363E-6 0.0001609 194 PASS . . . . . . . . . . . ENSG00000183054:ENST00000329516:exon20:c.C3131G:p.P1044R . . . . 0.14285715 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.653 . @ . . . . . 1 0.818 . . 245.0 . . . . . . . . . . 0.1794 0.151 0.179 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.279 @ . . . 0.52 0.39 182 ENSG00000183054 . . . . . 0.180 0.179 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.495 0.026 . . 37 . 0.558 . . 0.602 . . . 0.886 0.420 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.912 . . . . . 0.432 . 0.736 . LowAF 0 . . . . . . . . . . . . . X.19 . ENST00000329516 II.33 II.33 . 0.010000 . . . Name\x3dnsv510884 . . 0.751 . . II.33 . . . . . . . . . . . . . . . . . . . 0.428 . 1.309 1.309000 . . 0.010000 . . 1.0E-194 1.000 0.715 . 0.562 0.998 . 0.982 . 0.297 1.309 0.913 . rs2464067 rs2464067 rs2464067 rs2464067 1 1538 10 1/0 0,191,255 +. 2 111293125 G T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution missense exon GRCh37 111293125 111293125 Chr2(GRCh37):g.111293125G>T 2838 2838 NM_005054.2:c.2838C>A p.Phe946Leu p.Phe946Leu 20 612708 141 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 COSM6390916 Thyroid 0.001339 747 transversion C A C>A 0.024 0.125 F Phe TTC 0.546 L Leu TTA 0.073 946 13 6 Rabbit 1 0 0 0 0 5.II 4.IX 132 111 22 C0 353.86 0.00 Tolerated 0.74 III.71 good 6.709E-1 0.5891 199 PASS . . . . . . . . . . . ENSG00000183054:ENST00000329516:exon20:c.C2838A:p.F946L . . . . 0.1570248 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.058 . . 121.0 . . . . . . . . . . -0.5014 -0.611 -0.501 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.209 @ . . . 0.52 0.39 182 ENSG00000183054 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.063 0.003 . . 37 . 0.213 . . 0.260 . . . 0.192 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.236 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.072 . . . . . 0.103 . 0.159 . HET 0.65 . . . . . . . . . . . . . IV.88 . ENST00000329516 II.33 I.33 . 0.440000 . . . Name\x3dnsv510884 . . 0.142 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.218 0.218000 . . 0.440000 . . 1.0E-199 0.609 0.276 . 0.233 0.563 . 0.279 . 0.106 0.218 -0.014 . rs17041516 rs17041516 rs2056812 rs17041516 1 1538 10 1/0 0,223,255 +. 2 111293125 G T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution missense exon GRCh37 111293125 111293125 Chr2(GRCh37):g.111293125G>T 2838 2838 NM_001123363.3:c.2838C>A p.Phe946Leu p.Phe946Leu 21 612709 141 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 COSM6390916 Thyroid 0.001339 747 transversion C A C>A 0.024 0.125 F Phe TTC 0.546 L Leu TTA 0.073 946 13 6 Rabbit 1 0 0 0 0 5.II 4.IX 132 111 22 C0 353.86 0.00 Tolerated 0.74 III.71 good 6.709E-1 0.5891 199 PASS . . . . . . . . . . . ENSG00000183054:ENST00000329516:exon20:c.C2838A:p.F946L . . . . 0.1570248 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.058 . . 121.0 . . . . . . . . . . -0.5014 -0.611 -0.501 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.209 @ . . . 0.52 0.39 182 ENSG00000183054 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.063 0.003 . . 37 . 0.213 . . 0.260 . . . 0.192 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.236 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.072 . . . . . 0.103 . 0.159 . HET 0.65 . . . . . . . . . . . . . IV.88 . ENST00000329516 II.33 I.33 . 0.440000 . . . Name\x3dnsv510884 . . 0.142 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.218 0.218000 . . 0.440000 . . 1.0E-199 0.609 0.276 . 0.233 0.563 . 0.279 . 0.106 0.218 -0.014 . rs17041516 rs17041516 rs2056812 rs17041516 1 1538 10 1/0 0,223,255 +rs199635657 2 111304748 C T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution missense exon GRCh37 111304748 111304748 Chr2(GRCh37):g.111304748C>T 1391 1391 NM_005054.2:c.1391G>A p.Arg464His p.Arg464His 10 612708 -68 5' 79.0307 6.94989 0.974143 0 79.0307 6.94989 0.974143 0 0 rs199635657 no no 0 C 0.000000 0 transition G A G>A 0.976 -0.037 R Arg CGT 0.082 H His CAT 0.413 464 13 2 Frog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.35 III.71 good 9.359E-1 0.03926 255 PASS . . . . . . . . . . . . . . . . 0.37012988 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.012 . . 154.0 . . . . . . . . . . -1.1763 -1.123 -1.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.826 . . exonic exonic exonic . . 0.196 @ . . . 0.47 0.32 182 ENSG00000183054 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.519 0.029 . . 37 . 0.540 . . 0.421 . . . 0.006 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.051 . . . . . 0.187 . 0.047 . HET 1 rs199635657 . . . . . . . . . . . . 6.0151 . . II.35 1.XII . 0.520000 . . . . . . 0.224 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.202 -0.202000 . . 0.520000 . . 1.0E-255 1.000 0.715 . 0.446 0.998 . 0.420 . 0.106 -0.202 0.061 . rs3960693 rs3960693 rs3960693 rs199635657 1 1538 10 1/0 0,231,255 +rs199635657 2 111304748 C T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution missense exon GRCh37 111304748 111304748 Chr2(GRCh37):g.111304748C>T 1391 1391 NM_001123363.3:c.1391G>A p.Arg464His p.Arg464His 11 612709 -68 5' 79.0307 6.94989 0.974143 0 79.0307 6.94989 0.974143 0 0 rs199635657 no no 0 C 0.000000 0 transition G A G>A 0.976 -0.037 R Arg CGT 0.082 H His CAT 0.413 464 13 2 Frog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.35 III.71 good 9.359E-1 0.03926 255 PASS . . . . . . . . . . . . . . . . 0.37012988 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.012 . . 154.0 . . . . . . . . . . -1.1763 -1.123 -1.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.826 . . exonic exonic exonic . . 0.196 @ . . . 0.47 0.32 182 ENSG00000183054 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.519 0.029 . . 37 . 0.540 . . 0.421 . . . 0.006 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.051 . . . . . 0.187 . 0.047 . HET 1 rs199635657 . . . . . . . . . . . . 6.0151 . . II.35 1.XII . 0.520000 . . . . . . 0.224 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.202 -0.202000 . . 0.520000 . . 1.0E-255 1.000 0.715 . 0.446 0.998 . 0.420 . 0.106 -0.202 0.061 . rs3960693 rs3960693 rs3960693 rs199635657 1 1538 10 1/0 0,231,255 +. 2 111309399 T C - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution intron GRCh37 111309399 111309399 Chr2(GRCh37):g.111309399T>C 979-11 979-11 NM_005054.2:c.979-11A>G p.? p.? 8 7 612708 -11 3' 70.8633 4.324 0.040142 1.13697 71.135 4.59776 0.073222 0 0.297073 Cryptic Acceptor Weakly Activated 111309388 4.324 0.040142 70.8633 4.59776 0.073222 71.135 transition A G A>G 0.953 0.205 227 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.4457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 111309399 T C - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution intron GRCh37 111309399 111309399 Chr2(GRCh37):g.111309399T>C 979-11 979-11 NM_001123363.3:c.979-11A>G p.? p.? 9 8 612709 -11 3' 70.8633 4.324 0.040142 1.13697 71.135 4.59776 0.073222 0 0.297073 Cryptic Acceptor Weakly Activated 111309388 4.324 0.040142 70.8633 4.59776 0.073222 71.135 transition A G A>G 0.953 0.205 227 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.4457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 111315453 T C - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution synonymous exon GRCh37 111315453 111315453 Chr2(GRCh37):g.111315453T>C 954 954 NM_005054.2:c.954A>G p.Ala318= p.Ala318Ala 7 612708 -25 5' 100 X.83 0.998987 7.75683 100 X.83 0.998987 7.73076 0 transition A G A>G 0.512 -1.732 A Ala GCA 0.226 A Ala GCG 0.107 318 229 PASS . . . . . . . . . . . . . . . . 0.24050634 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.72 182 ENSG00000183054 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs2699519 rs2699519 rs2699519 rs2699519 1 1538 10 1/0 0,249,255 +. 2 111315453 T C - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution synonymous exon GRCh37 111315453 111315453 Chr2(GRCh37):g.111315453T>C 954 954 NM_001123363.3:c.954A>G p.Ala318= p.Ala318Ala 8 612709 -25 5' 100 X.83 0.998987 7.75683 100 X.83 0.998987 7.73076 0 transition A G A>G 0.512 -1.732 A Ala GCA 0.226 A Ala GCG 0.107 318 229 PASS . . . . . . . . . . . . . . . . 0.24050634 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.72 182 ENSG00000183054 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs2699519 rs2699519 rs2699519 rs2699519 1 1538 10 1/0 0,249,255 +. 2 111325509 C T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution intron GRCh37 111325509 111325509 Chr2(GRCh37):g.111325509C>T 252+32 252+32 NM_005054.2:c.252+32G>A p.? p.? 3 3 612708 32 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 transition G A G>A 0.008 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.41269842 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.3494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.26 182 ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2458991 rs2458991 rs2458991 rs2458991 1 1538 10 1/0 0,255,255 +. 2 111325509 C T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution intron GRCh37 111325509 111325509 Chr2(GRCh37):g.111325509C>T 252+32 252+32 NM_001123363.3:c.252+32G>A p.? p.? 4 4 612709 32 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 transition G A G>A 0.008 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.41269842 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.3494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.26 182 ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2458991 rs2458991 rs2458991 rs2458991 1 1538 10 1/0 0,255,255 +. 2 111327328 C T - RGPD5 32418 RANBP2-like and GRIP domain containing 5 NM_005054.2 -1 7165 5298 NP_005045.2 Q99666 substitution intron GRCh37 111327328 111327328 Chr2(GRCh37):g.111327328C>T 73-27 73-27 NM_005054.2:c.73-27G>A p.? p.? 2 1 612708 -27 3' 88.3771 6.74776 0.953191 3.82457 88.3771 6.74776 0.953191 3.95978 0 transition G A G>A 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.25 182 ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2438854 rs2438854 rs2438854 rs2438854 1 1538 10 1/0 0,255,255 +. 2 111327328 C T - RGPD6 32419 RANBP2-like and GRIP domain containing 6 NM_001123363.3 -1 7640 5298 NP_001116835.1 Q99666 substitution intron GRCh37 111327328 111327328 Chr2(GRCh37):g.111327328C>T 73-27 73-27 NM_001123363.3:c.73-27G>A p.? p.? 3 2 612709 -27 3' 88.3771 6.74776 0.953191 3.82457 88.3771 6.74776 0.953191 3.95978 0 transition G A G>A 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.25 182 ENSG00000183054 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2438854 rs2438854 rs2438854 rs2438854 1 1538 10 1/0 0,255,255 +rs62164158 2 112541814 T A - ANAPC1 19988 Anaphase promoting complex subunit 1 NM_022662.3 -1 7736 5835 NP_073153.1 Q9H1A4 substitution intron GRCh37 112541814 112541814 Chr2(GRCh37):g.112541814T>A 4995+86 4995+86 NM_022662.3:c.4995+86A>T p.? p.? 41 41 608473 86 5' 94.2214 9.88355 0.992321 5.64701 94.2214 9.88355 0.992321 5.64701 0 rs62164158 no no 0 A 0.000000 0 0.000582 0.000960 0.000000 0.000000 0.000000 0.000000 0.000367 0.001235 0.000000 0.001235 16 7 0 0 0 0 5 4 0 27480 7292 776 284 1372 0 13608 3238 910 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 7 0 0 0 0 5 4 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion A T A>T 0.000 0.609 242 PASS . . . . . . . . . . . . . . . . 0.28333333 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||ANAPC1|mRNA|CODING|NM_022662|) . . . . . . . -0.1468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.2 182 ENSG00000153107 ANAPC1 ANAPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62164158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.V . . . . . . . . . 0.0010 0.0006 0 0 0 0.0012 0.0004 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs62164158 rs62164158 rs62164158 rs62164158 1 1538 10 1/0 0,255,255 +rs147423265 2 112940369 C T - FBLN7 26740 Fibulin 7 NM_153214.2 1 2299 1320 NP_694946.2 Q53RD9 substitution synonymous exon GRCh37 112940369 112940369 Chr2(GRCh37):g.112940369C>T 672 672 NM_153214.2:c.672C>T p.Asp224= p.Asp224Asp 6 611551 2 3' 87.1895 7.23513 0.621418 6.10241 87.1895 8.40995 0.818774 7.09664 0.159989 Cryptic Acceptor Strongly Activated 112940368 7.23513 0.621418 87.1895 8.40995 0.818774 87.1895 EGF-like calcium-binding rs147423265 yes no Frequency 1 T 0.000000 0 0.001549 0.000043 0.000261 0.000000 0.000000 0.000392 0.002865 0.001133 0.001321 0.002865 408 1 8 0 0 11 351 29 8 263390 23160 30628 9788 17592 28052 122516 25600 6054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 408 1 8 0 0 11 351 29 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8578 4405 12983 22 1 23 0.00255814 0.000226963 0.00176841 0.00255814 0.000226963 0.00176841 52 COSM4084205 Stomach 0.001161 861 transition C T C>T 1.000 0.690 D Asp GAC 0.539 D Asp GAT 0.461 224 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . . 0.0002 0.0018 0.0026 0.0002 0.0018 0.0026 . I.92 . . . . . . . . 1.753e-03 . . . 0 0.0012 0.0004 0 0.0018 0.0022 0.0058 0.0003 0 0.0017 0.0004 0 0.0020 0.0028 0.0015 0.0003 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.54 182 ENSG00000144152 FBLN7 FBLN7 . . . . . . 103 0.0015852 64976 103 0.00171707 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147423265 . . . . . . . . . . . . . . . . . . . . 0 0.004 . 0.001768 . . . . IV.51 0 0.0015 0.0003 0 0 0.0012 0.0028 0.0014 0.0004 0.0001 0.0017 0 0 0 0.0006 0.0033 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs147423265 rs147423265 1 1538 10 1/0 0,241,255 +rs538189245 2 113147391 G C - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution missense exon GRCh37 113147391 113147391 Chr2(GRCh37):g.113147391G>C 3131 3131 NM_001164463.1:c.3131C>G p.Pro1044Arg p.Pro1044Arg 20 602752 434 3' 90.9886 X.91 0.924975 5.175 90.9886 X.91 0.924975 5.175 0 Ran binding protein 1 rs538189245 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000800 0.000000 0.003000 0.001000 0.000000 0.000514 0.000090 0.000780 0.000000 0.003146 0.000000 0.000070 0.000000 0.000000 0.003146 38 1 8 0 27 0 2 0 0 73922 11068 10262 1292 8582 6004 28596 6004 2114 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000070 0.000000 0.000000 1 0 0 0 0 0 1 0 0 36 1 8 0 27 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 1.000 4.079 P Pro CCT 0.283 R Arg CGT 0.082 1044 13 10 Tetraodon -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0 III.68 bad 2.363E-6 0.0001609 215 PASS . . . . . 0.0008 0.001 . 0.003 0.001 . . . . . . 0.19642857 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.528 . @ . . . . . 1 0.828 . . 224.0 . . . . . . . . . . 0.6507 0.466 0.651 c . . . . . 8.870e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.279 0.0010 . . . 0.48 0.42 182 ENSG00000169629 . . . . . 0.180 0.179 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.300 0.012 . . 37 . 0.723 . . 0.779 . . . 0.886 0.463 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.912 . . . . . 0.432 . 0.452 . HET 0 rs538189245 . . . . . . . . . . . . X.19 . . II.33 II.33 . 0.010000 O14715 . . . . . 0.761 . . II.33 0 0.0007 0.0007 0 0.0033 0 0.0001 0 0 0.0002 0.0002 0.0015 0 0.0019 0 0 0 . . 0.428 . 1.309 1.309000 . . 0.010000 . . 1.0E-215 1.000 0.715 . 0.653 0.998 . 0.982 . 0.296 1.309 0.913 . rs2464067 rs2464067 rs2464067 rs2464067 1 1538 10 1/0 0,201,255 +. 2 113155572 T C - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution missense exon GRCh37 113155572 113155572 Chr2(GRCh37):g.113155572T>C 2393 2393 NM_001164463.1:c.2393A>G p.Glu798Gly p.Glu798Gly 17 602752 11 3' 93.4551 9.58411 0.993363 9.61009 93.4551 9.58411 0.992455 9.54837 -0.000304689 transition A G A>G 1.000 1.416 E Glu GAA 0.417 G Gly GGA 0.246 798 13 2 Chimp -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Deleterious 0.02 III.71 bad 3.227E-4 0.0005516 188 PASS . . . . . . . . . . . . . . . . 0.13 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.336 . @ . . . . . 1 0.462 . . 100.0 . . . . . . . . . . -0.6507 -0.604 -0.651 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.227 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000169629 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.135 0.005 . . 37 . 0.123 . . 0.309 . . . 0.065 0.186 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.545 . . 0 0 0 0 0 0 . 0.260 . . 0.291 . . . . . . 0 0.721 . . . . . 0.156 . 0.152 . LowAF 0.02 . . . . . . . . . . . . . V.04 . . II.33 1.XI . 0.090000 . . . . . . 0.376 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.159 0.159000 . . 0.090000 . . 1.0E-188 1.000 0.715 . 0.494 0.980 . 0.510 . 0.300 0.159 0.987 . . . . . 1 1538 10 1/0 0,229,255 +. 2 113155718 C T - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution synonymous exon GRCh37 113155718 113155718 Chr2(GRCh37):g.113155718C>T 2340 2340 NM_001164463.1:c.2340G>A p.Pro780= p.Pro780Pro 16 602752 -43 5' 81.7632 8.138 0.974919 1.38049 81.7632 8.138 0.974919 0.7806 0 transition G A G>A 0.976 -0.924 P Pro CCG 0.115 P Pro CCA 0.274 780 217 PASS . . . . . . . . . . . . . . . . 0.20560747 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . 0.2292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.62 182 ENSG00000169629 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs3960689 rs3960689 rs3960689 rs3960689 1 1538 10 1/0 0,233,255 +. 2 113159311 C T - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution missense exon GRCh37 113159311 113159311 Chr2(GRCh37):g.113159311C>T 1391 1391 NM_001164463.1:c.1391G>A p.Arg464His p.Arg464His 10 602752 -68 5' 79.0307 6.94989 0.974143 0 79.0307 6.94989 0.974143 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.992 0.125 R Arg CGT 0.082 H His CAT 0.413 464 13 2 Frog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.35 III.71 good 9.36E-1 0.03925 232 PASS . . . . . . . . . . . . . . . . 0.24806201 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.272 . @ . . . . . 1 0.003 . . 129.0 . . . . . . . . . . -1.1910 -1.039 -1.191 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.826 . . exonic exonic exonic . . 0.279 @ . . . 0.57 0.59 182 ENSG00000169629 RGPD8 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.470 0.024 . . 37 . 0.545 . . 0.488 . . . 0.006 0.186 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.049 . . . . . 0.115 . 0.067 . HET 1 . . . . . . . . . . . . . IV.14 . . II.33 II.33 . 0.510000 . . . Name\x3dnsv874871 . . 0.225 . . II.33 . . . . . . . . . . . . . . . . . . . 0.428 . 0.150 0.150000 . . 0.510000 . . 1.0E-232 1.000 0.715 . 0.454 0.998 . 0.422 . 0.117 0.150 0.061 . rs3960693 rs3960693 rs3960693 rs3960693 1 1538 10 1/0 0,229,255 +. 2 113163972 T C - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution intron GRCh37 113163972 113163972 Chr2(GRCh37):g.113163972T>C 979-11 979-11 NM_001164463.1:c.979-11A>G p.? p.? 8 7 602752 -11 3' 70.8633 4.324 0.040142 1.13697 71.135 4.59776 0.073222 0 0.297073 Cryptic Acceptor Weakly Activated 113163961 4.324 0.040142 70.8633 4.59776 0.073222 71.135 transition A G A>G 0.953 0.205 222 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . 0.4470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000169629 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.026 Name\x3dnsv874871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2673119 2 113180114 C T - RGPD8 9849 RANBP2-like and GRIP domain containing 8 NM_001164463.1 -1 7299 5298 NP_001157935.1 O14715 substitution intron GRCh37 113180114 113180114 Chr2(GRCh37):g.113180114C>T 252+11 252+11 NM_001164463.1:c.252+11G>A p.? p.? 3 3 602752 11 5' 90.7326 X.06 0.996716 0 90.7326 X.06 0.996716 0 0 rs2673119 no no 0 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000108 0.000000 0.000051 0.000000 0.000000 0.000108 3 0 0 0 1 0 2 0 0 92110 14308 11778 1686 9282 6376 38978 7150 2552 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.167 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . 0.0877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.32 182 ENSG00000169629 RGPD8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv874871 . . . . . . 0 4.784e-05 0 0 0.0001 0 7.921e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs2673119 rs2673119 rs2673119 rs2673119 1 1538 10 1/0 0,228,255 +rs572274510 2 113481425 C G - NT5DC4 27678 5'-nucleotidase domain containing 4 NM_001350494.1 1 1767 1287 NP_001337423.1 Q86YG4 substitution intron GRCh37 113481425 113481425 Chr2(GRCh37):g.113481425C>G 678+46 678+46 NM_001350494.1:c.678+46C>G p.? p.? 9 9 46 5' 82.716 7.79763 0.971423 VI.91 82.716 7.79763 0.971423 6.36125 0 rs572274510 yes no Frequency/1000G 2 C 0.001597 G 8 0.001597 0.000000 0.002000 0.000000 0.004000 0.002900 0.005128 0.001185 0.003052 0.012252 0.000000 0.000716 0.008327 0.004830 0.007021 0.012252 880 18 75 100 0 16 543 95 33 171592 15188 24578 8162 11736 22350 65210 19668 4700 0.000082 0.000000 0.000081 0.000245 0.000000 0.000000 0.000153 0.000000 0.000000 7 0 1 1 0 0 5 0 0 866 18 73 98 0 16 533 95 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.360 255 PASS . . . . . . 0.0016 0.0029 . 0.004 0.002 . . . . . 0.5590551 . . @ 71 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 127.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.8089 . . . . . . . . 3.162e-03 . . . 0 0.0041 0 0 0 0.0115 0 0.0003 0 0.0034 0 0 0.0056 0.0114 0 0.0003 . . . . . . intronic intronic intergenic . . . 0.0016 . . . . . . ENSG00000144130 NT5DC4 . . . dist\x3d60025\x3bdist\x3d12502 . . . 355 0.00546356 64976 347 0.00578468 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs572274510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0049 0.0030 0.0118 0 0.0051 0.0079 0.0062 0.0007 0.0015 0.0063 0.0048 0.0232 0 0.0037 0.0098 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,247 +rs1756507 2 114205192 C T - CBWD2 17907 COBW domain containing 2 NM_172003.3 1 1827 1188 NP_742000.1 Q8IUF1 substitution intron GRCh37 114205192 114205192 Chr2(GRCh37):g.114205192C>T 430+2560 430+2560 NM_172003.3:c.430+2560C>T p.? p.? 4 4 611079 2560 5' 94.6711 X.63 0.998014 1.29144 94.6711 X.63 0.998014 1.29144 0 rs1756507 no no 0 C 0.000000 0 transition C T C>T 0.134 0.205 255 PASS . . . . . . . . . . . ENSG00000238091:ENST00000440617:exon1:c.G238A:p.G80S . . . . 0.35714287 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||CBWD2|mRNA|CODING|NM_172003|) . . . . . . . -0.8239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.35 0.15 182 ENSG00000238091 CBWD2 CBWD2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs1756507 . . . . . . . . . . . . . . ENST00000440617 0.109 0.109 . 0.560000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.181 0.181000 . . 0.560000 . . 1.0E-255 . . . . . . . . . 0.181 . . rs1756507 rs1756507 rs77379650 rs77379650 1 1538 10 1/0 0,255,255 +rs62158375 2 114239828 C T - CBWD2 17907 COBW domain containing 2 NM_172003.3 1 1827 1188 NP_742000.1 Q8IUF1 substitution intron GRCh37 114239828 114239828 Chr2(GRCh37):g.114239828C>T 816+23 816+23 NM_172003.3:c.816+23C>T p.? p.? 11 11 611079 23 5' 82.8297 9.65432 0.964438 2.83202 82.8297 9.65432 0.964438 2.63964 0 rs62158375 no no 0 C 0.000000 0 transition C T C>T 0.008 0.528 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||CBWD2|mRNA|CODING|NM_172003|) . . . . . . . -0.2715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.12 182 ENSG00000136682 CBWD2 CBWD2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62158375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . rs1757270 rs1757270 rs1757270 rs1757270 1 1538 10 1/0 0,255,255 +rs201655302 2 114257162 A C - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257162 114257162 Chr2(GRCh37):g.114257162A>C 329 329 NM_012184.4:c.329A>C p.Tyr110Ser p.Tyr110Ser 1 611084 Transcription factor, fork head rs201655302 no no 0 A 0.000000 0 0.000099 0.000087 0.000060 0.000199 0.000000 0.000000 0.000169 0.000000 0.000000 0.000199 27 2 2 2 0 0 21 0 0 271412 23030 33484 10068 18036 30662 124234 25560 6338 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 2 2 2 0 0 21 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 1.000 3.514 Y Tyr TAC 0.562 S Ser TCC 0.220 110 7 7 Platypus -2 -2 -3 0.2 I.42 6.II 9.II 136 32 144 C65 0.00 143.11 Deleterious 0 III.65 bad 3.518E-4 5.317E-5 177 PASS . . . . . . . . . . . ENSG00000184492:ENST00000306507:exon1:c.A329C:p.Y110S FOXD4L1:uc002tjw.4:exon1:c.A329C:p.Y110S FOXD4L1:NM_012184:exon1:c.A329C:p.Y110S . . 0.10752688 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.576 . @ . . . . . 1 0.390 . . 93.0 . . . . . . . . . . 0.0770 0.047 0.077 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.959 . . exonic exonic exonic . . 0.322 @ . . . 0.27 0.36 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.028 0.138 . . . . . . . Uncertain_significance . 0 . 0.312 . . . . D 0.712 0.071 . . 37 . 0.959 . . 0.952 . . . 0.952 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.974 . . 0 0 0 0 0 0 . 0.270 . . 0.306 . . . . . . 1 0.506 . . . . . 0.358 . 0.635 . LowAF 0.04 rs201655302 . . . . . . . . . . . . 9.1315 . ENST00000306507 II.85 II.85 . 0.030000 Q9NU39 . . . . . 0.654 . . II.85 6.697e-05 2.057e-05 3.057e-05 0.0001 0 0 1.808e-05 0 0 0.0001 0.0008 0.0013 0.0035 0 0 0.0014 0 . . 0.340 . 1.309 1.309000 . . 0.030000 . . 1.0E-177 1.000 0.715 . 0.398 0.985 . 0.668 . 0.293 1.309 0.960 . . . rs201655302 rs201655302 1 1538 10 1/0 0,230,255 +rs199845792 2 114257296 A G - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257296 114257296 Chr2(GRCh37):g.114257296A>G 463 463 NM_012184.4:c.463A>G p.Ile155Val p.Ile155Val 1 611084 Transcription factor, fork head rs199845792 yes no Frequency 1 0.000000 0 0.000536 0.000271 0.000555 0.000102 0.000064 0.000172 0.000364 0.002636 0.000164 0.002636 136 6 16 1 1 5 43 63 1 253628 22112 28834 9796 15724 29068 118108 23898 6088 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 134 6 16 1 1 5 41 63 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM224838|COSM224838|COSM224838 Thyroid|Skin|Prostate 0.001339|0.001623|0.000567 747|1232|1764 transition A G A>G 1.000 3.434 I Ile ATC 0.481 V Val GTC 0.240 155 7 6 Platypus 3 3 4 0 0 5.II 5.IX 111 84 29 C25 0.00 28.68 Deleterious 0 III.62 bad 7.405E-3 0.0003309 198 PASS . . . . . . . . . . . ENSG00000184492:ENST00000306507:exon1:c.A463G:p.I155V FOXD4L1:uc002tjw.4:exon1:c.A463G:p.I155V FOXD4L1:NM_012184:exon1:c.A463G:p.I155V . . 0.15555556 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.608 . @ . . . . . 1 0.946 . . 90.0 . . . . . . . . . . 0.3822 0.270 0.382 c . . . . . 7.266e-04 . . . 0.0015 0.0008 0.0007 0.0005 0.0003 0.0011 0 0.0002 0.0008 0.0003 0.0005 0.0002 0.0002 0.0002 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.964 . . exonic exonic exonic . . 0.298 @ . . . 0.28 0.21 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.014 0.126 . . . . . . . Uncertain_significance . 0 . 0.317 . . . . D 0.662 0.055 . . 37 . 0.968 . . 0.959 . . . 0.555 0.548 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 0 0 . 0.670 . . 0.832 . . . . . . 1 0.614 . . . . . 0.330 . 0.510 . HET 0.01 rs199845792 . . . . . . . . . . . . VIII.31 . ENST00000306507 II.57 II.57 . 0.020000 Q9NU39 . . . . . 0.649 . . II.57 0.0001 0.0005 0.0005 0.0001 6.882e-05 0.0027 0.0003 0.0002 0.0002 0.0005 0.0009 0.0015 0 0 0.0022 0.0009 0 . . 0.340 . 1.190 1.190000 . . 0.020000 . . 1.0E-198 1.000 0.715 . 0.750 1.000 . 0.607 . 0.293 1.190 0.960 . . . rs199845792 rs199845792 1 1538 10 1/0 0,236,255 +rs2482275 2 114257354 A G - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257354 114257354 Chr2(GRCh37):g.114257354A>G 521 521 NM_012184.4:c.521A>G p.His174Arg p.His174Arg 1 611084 Transcription factor, fork head rs2482275 yes no Frequency/1000G 2 0.000000 0 0.058706 0.009100 0.026600 0.177600 0.013900 0.090800 0.006163 0.001897 0.019378 0.001020 0.037055 0.005915 0.001860 0.000166 0.004158 0.037055 1550 41 552 10 527 171 220 4 25 251502 21612 28486 9808 14222 28910 118302 24150 6012 0.005662 0.001388 0.018184 0.000816 0.035016 0.005534 0.001555 0.000083 0.003992 712 15 259 4 249 80 92 1 12 126 11 34 2 29 11 36 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM404602 Lung 0.000419 2389 transition A G A>G 1.000 3.434 H His CAC 0.587 R Arg CGC 0.190 174 7 7 Platypus 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C25 0.00 28.82 Deleterious 0 III.65 bad 1.627E-5 9.497E-5 205 PASS . . . . . 0.0091 0.059 0.091 0.18 0.014 0.027 ENSG00000184492:ENST00000306507:exon1:c.A521G:p.H174R FOXD4L1:uc002tjw.4:exon1:c.A521G:p.H174R FOXD4L1:NM_012184:exon1:c.A521G:p.H174R . . 0.17460318 . . @ 11 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.214 . . 63.0 . . . . . . . . . . -0.6428 -0.443 -0.643 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.950 . . exonic exonic exonic . . 0.298 0.0587 . . . 0.31 0.35 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.014 0.126 . . . . . . . Benign . 0 . 0.356 . . . . . . . . . 37 . 0.771 . . 0.704 . . . 0.005 0.410 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.644 . . 0 0 0 0 0 0 . 0.139 . . 0.149 . . . . . . 1 0.182 . . . . . 0.330 . 0.376 . HET 0.1 rs202243377 . . . . . . . . . . . . VIII.31 . ENST00000306507 II.57 II.57 . 0.360000 Q9NU39 . . . . . 0.553 . . II.57 0.0025 0.0068 0.0198 0.0010 0.0392 0.0001 0.0020 0.0046 0.0059 0.0008 0.0010 0.0016 0 0.0045 0.0003 0.0010 0.0012 . . 0.340 . 1.190 1.190000 . . 0.360000 . . 1.0E-205 0.560 0.272 . 0.587 1.000 . 0.603 . 0.293 1.190 0.960 . . . rs202243377 rs202243377 1 1538 10 1.I 0,0,0 +rs2757971 2 114257369 C A - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257369 114257369 Chr2(GRCh37):g.114257369C>A 536 536 NM_012184.4:c.536C>A p.Thr179Asn p.Thr179Asn 1 611084 Transcription factor, fork head rs2757971 no no 0 0.000000 0 0.001188 0.000413 0.003507 0.000510 0.006289 0.002189 0.000287 0.000000 0.000331 0.006289 298 9 98 5 87 63 34 0 2 250862 21800 27942 9808 13834 28784 118356 24304 6034 0.001068 0.000183 0.003221 0.000408 0.005927 0.002154 0.000203 0.000000 0.000331 134 2 45 2 41 31 12 0 1 30 5 8 1 5 1 10 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3682295 Haematopoietic and lymphoid tissue 0.000850 3530 transversion C A C>A 1.000 0.609 T Thr ACC 0.361 N Asn AAC 0.536 179 7 1 0 0 0 0.71 I.33 8.VI 11.VI 61 56 65 C0 64.77 0.00 Tolerated 1 III.65 good 1,00E+00 0.0002187 180 PASS . . . . . . . . . . . ENSG00000184492:ENST00000306507:exon1:c.C536A:p.T179N FOXD4L1:uc002tjw.4:exon1:c.C536A:p.T179N FOXD4L1:NM_012184:exon1:c.C536A:p.T179N . . 0.114754096 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.217 . . 61.0 . . . . . . . . . . -1.4766 -1.205 -1.477 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.951 . . exonic exonic exonic . . 0.209 @ . . . 0.34 0.34 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.365 . . . . D 0.600 0.041 . . 37 . 0.608 . . 0.697 . . . 0.001 0.221 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 1 0.010 . . . . . 0.091 . 0.195 . LowAF 1 rs2757971 . . . . . . . . . . . . 4.0146 . ENST00000306507 II.57 I.34 . 1.000000 Q9NU39 . . . . . 0.121 . . . 0.0004 0.0013 0.0036 0.0005 0.0066 0 0.0003 0.0004 0.0022 0.0005 0.0003 0 0 0.0020 0 0.0002 0 . . 0.340 . -0.110 -0.110000 . . 1.000000 . . 1.0E-180 1.000 0.715 . 0.587 0.999 . 0.346 . 0.106 -0.110 0.051 . rs2757971 rs2757971 rs2757971 rs2757971 1 1538 10 1.I 0,0,0 +rs200366671 2 114257555 T C - FOXD4L1 18521 Forkhead box D4-like 1 NM_012184.4 1 2067 1227 NP_036316.1 Q9NU39 substitution missense exon GRCh37 114257555 114257555 Chr2(GRCh37):g.114257555T>C 722 722 NM_012184.4:c.722T>C p.Leu241Pro p.Leu241Pro 1 611084 rs200366671 yes no Frequency 1 0.000000 0 0.008976 0.007068 0.023860 0.002069 0.044060 0.008010 0.003093 0.001931 0.009411 0.044060 2099 142 669 20 606 230 349 29 54 233858 20090 28038 9668 13754 28714 112834 15022 5738 0.008065 0.002987 0.023539 0.001862 0.043187 0.007871 0.002357 0.001065 0.008017 943 30 330 9 297 113 133 8 23 213 82 9 2 12 4 83 13 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.992 0.286 L Leu CTG 0.404 P Pro CCG 0.115 241 7 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 240.02 0.00 Tolerated 1 III.75 good 9.999E-1 0.05212 255 PASS . . . . . . . . . . . ENSG00000184492:ENST00000306507:exon1:c.T722C:p.L241P FOXD4L1:uc002tjw.4:exon1:c.T722C:p.L241P FOXD4L1:NM_012184:exon1:c.T722C:p.L241P . . 0.375 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.129 . @ . . . . . 1 0.045 . . 24.0 . . . . . . . . . . -1.4523 -1.377 -1.452 c . . . . . 1.436e-03 . . . 0.0024 0.0005 0.0003 0.0021 0 8.918e-05 0 0.0002 0.0026 0.0004 0.0003 0.0021 0 2.086e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.944 . . exonic exonic exonic . . 0.298 @ . . . 0.28 0.3 182 ENSG00000184492 FOXD4L1 FOXD4L1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.417 0.019 . . 37 . 0.788 . . 0.722 . . . 0.004 0.329 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.168 . 0.135 . HET 0.11 rs200366671 . . . . . . . . . . . . V.31 . ENST00000306507 II.57 II.57 . 0.320000 Q9NU39 . . . . . 0.015 . . II.57 0.0048 0.0091 0.0243 0.0020 0.0459 0.0013 0.0027 0.0092 0.0080 0.0114 0.0081 0.0033 0.0039 0.0131 0.0047 0.0068 0.0109 . . 0.340 . 0.428 0.428000 . . 0.320000 . . 1.0E-255 0.000 0.063 . 0.122 0.039 . 0.014 . 0.076 0.428 -0.067 . rs1665336 rs1665336 rs1665336 rs1665336 1 1538 10 1/0 0,255,255 +rs11266902 2 114354050 C T - WASH2P 33145 WAS protein family homolog 2 pseudogene NR_024077.2 1 1959 0 substitution exon GRCh37 114354050 114354050 Chr2(GRCh37):g.114354050C>T 1042 1042 NR_024077.2:n.1042C>T 7 93 3' 85.5068 X.33 0.903657 XII.53 85.5068 X.33 0.903657 XII.53 0 rs11266902 yes no Frequency 1 0.000000 0 0.000058 0.000209 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 0.000209 4 2 0 0 0 0 2 0 0 69150 9550 11204 1412 8752 6092 27320 2832 1988 0.000029 0.000209 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 -0.360 190 PASS . . . . . . . . . . . . WASH2P:uc002tkh.3:exon2:c.C171T:p.N57N . . . 0.13559322 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 118.0 . . . . . . . . . . 0.3381 . . . . . . . . 6.868e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 . 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.65 0.49 182 ENSG00000146556 WASH2P WASH2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs11266902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.781e-05 0 0 0 0 9.98e-05 0 0 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs11266902 rs11266902 rs11266902 rs11266902 1 1538 10 1/0 0,222,255 +rs708637 2 114354064 T G - WASH2P 33145 WAS protein family homolog 2 pseudogene NR_024077.2 1 1959 0 substitution exon GRCh37 114354064 114354064 Chr2(GRCh37):g.114354064T>G 1056 1056 NR_024077.2:n.1056T>G 7 -92 5' 89.6127 X.54 0.993727 XII.55 89.6127 X.54 0.993727 XII.55 0 New Acceptor Site 114354065 2.80868 0.122993 71.968 rs708637 no no 0 0.000000 0 transversion T G T>G 1.000 1.093 196 PASS . . . . . . . . . . . . WASH2P:uc002tkh.3:exon2:c.T185G:p.I62S . . . 0.1495327 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 107.0 . . . . . . . . . . 0.6465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.59 0.52 182 ENSG00000146556 WASH2P WASH2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs17855873 rs17855873 rs708637 rs17855873 1 1538 10 1/0 0,228,255 +rs879286804 2 114354206 C G - WASH2P 33145 WAS protein family homolog 2 pseudogene NR_024077.2 1 1959 0 substitution intron GRCh37 114354206 114354206 Chr2(GRCh37):g.114354206C>G 1148-42 1148-42 NR_024077.2:n.1148-42C>G p.? p.? 8 7 -42 3' 87.22 8.69323 0.421749 X.59 87.22 8.69323 0.421749 10.456 0 114354209 -20.2941 rs879286804 no no 0 0.000000 0 0.004655 0.008088 0.000000 0.000000 0.000641 0.000000 0.004658 0.001190 0.000000 0.008088 125 62 0 0 1 0 58 4 0 26850 7666 776 208 1560 0 12452 3360 828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 62 0 0 1 0 58 4 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion C G C>G 0.000 0.367 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.1892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.53 0.34 182 ENSG00000146556 WASH2P WASH2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0081 0.0047 0 0 0.0006 0.0012 0.0047 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs2974805 rs2974805 rs2974805 rs2974805 1 1538 10 1/0 0,246,255 +rs35067994 (chr2:114425436 T/C) 2 114425436 T C Not on a known gene +rs12476915 2 116283581 C T - DPP10 20823 Dipeptidyl peptidase like 10 NM_001321905.1 1 6334 2442 NP_001308834.1 substitution intron GRCh37 116283581 116283581 Chr2(GRCh37):g.116283581C>T 492+33 492+33 NM_001321905.1:c.492+33C>T p.? p.? 6 6 608209 33 5' 82.8297 9.65432 0.928988 1.88688 82.8297 9.65432 0.928988 1.97364 0 rs12476915 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002117 0.000346 0.002665 0.007895 0.000000 0.000868 0.002598 0.001280 0.003335 0.007895 522 8 73 67 0 21 303 31 19 246574 23132 27394 8486 16852 24190 116606 24216 5698 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000351 1 0 0 0 0 0 0 0 1 520 8 73 67 0 21 303 31 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4405 12988 17 1 18 0.00197674 0.000226963 0.00138398 0.00197674 0.000226963 0.00138398 72 transition C T C>T 0.000 -1.167 255 PASS . 0.0023 0.01 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.6060606 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . -0.0382 . . . . . . . . 1.896e-03 . . . 0.0003 0.0020 0.0025 0 0.0011 0.0032 0.0044 0.0008 0.0001 0.0018 0.0025 0 0.0009 0.0026 0.0046 0.0008 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.42 0.28 182 ENSG00000175497 DPP10 DPP10 . . . . . . 182 0.00280103 64976 174 0.00290068 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12476915 . . . . . . . . . . . . . . . . . . . . . . . 0.001384 . . . . . 0.0003 0.0022 0.0025 0.0078 0 0.0013 0.0027 0.0038 0.0009 0.0005 0.0015 0.0072 0.0099 0 0.0011 0.0018 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs12476915 rs12476915 rs12476915 rs12476915 1 1538 10 1/0 0,255,255 +. 2 118850876 T TGAG - INSIG2 20452 Insulin induced gene 2 NM_001321329.1 1 2642 678 NP_001308258.1 Q9Y5U4 duplication intron GRCh37 118850903 118850904 Chr2(GRCh37):g.118850901_118850903dup -3232 -3230 NM_001321329.1:c.-138-3094_-138-3092dup p.? p.? 2 1 608660 -3091 3' 94.0926 XII.54 0.991624 10.0157 94.0926 XII.54 0.991624 10.0157 0 0.005714 0.004049 0.010870 0.000000 0.000000 0.000000 0.000992 0.028000 0.016667 0.028000 12 2 1 0 0 0 1 7 1 2100 494 92 48 148 0 1008 250 60 0.166667 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.285714 0.000000 2 0 0 0 0 0 0 2 0 6 1 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 PASS 234 Genomes GAG 255 Pass . . . . . . . . . . . . . . . . 0.39361703 . . . 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 94 . . INTRON(MODIFIER||||INSIG2|mRNA|CODING|NM_016133|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000125629 INSIG2 INSIG2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0057 0.0109 0 0 0.028 0.0010 0.0167 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +. 2 118851152 AGATGAT A - INSIG2 20452 Insulin induced gene 2 NM_001321329.1 1 2642 678 NP_001308258.1 Q9Y5U4 deletion intron GRCh37 118851164 118851169 Chr2(GRCh37):g.118851164_118851169del -2969 -2964 NM_001321329.1:c.-138-2831_-138-2826del p.? p.? 2 1 608660 -2826 3' 94.0926 XII.54 0.991624 10.0157 94.0926 XII.54 0.991624 10.0157 0 rs746957859 no no 0 0.000000 0 0.002390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.011013 0.000000 0.011013 5 0 0 0 0 0 0 5 0 2092 724 84 12 28 0 730 454 60 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 RF 137 Genomes TGATGA 255 Pass . . . . . . . . . . . . . . . . 0.4 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . INTRON(MODIFIER||||INSIG2|mRNA|CODING|NM_016133|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000125629 INSIG2 INSIG2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs746957859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0024 0 0 0 0.0110 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +rs148442092 2 121708869 G A - GLI2 4318 GLI family zinc finger 2 NM_005270.4 1 6769 4761 NP_005261.2 P10070 substitution missense exon GRCh37 121708869 121708869 Chr2(GRCh37):g.121708869G>A 305 305 NM_005270.4:c.305G>A p.Arg102Gln p.Arg102Gln 3 165230 51 3' 91.7831 X.28 0.980053 XI.89 91.7831 X.28 0.980053 11.0024 0 New Acceptor Site 121708871 5.78042 0.174188 83.1327 rs148442092 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000123 0.000916 0.000058 0.000000 0.000265 0.000032 0.000016 0.000039 0.000155 0.000916 34 22 2 0 5 1 2 1 1 276970 24020 34410 10134 18864 30778 126518 25788 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 22 2 0 5 1 2 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4402 13002 0 4 4 0 0.000907853 0.00030755 0 0.000907853 0.00030755 100 RCV000513069.1 germline clinical testing VUS 1 not provided COSM6019836 Breast 0.000381 2628 transition G A G>A 1.000 4.241 R Arg CGG 0.207 Q Gln CAG 0.744 102 13 11 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.31 0.00 Deleterious 0 III.76 bad 1.1E-3 8.461E-5 255 PASS . 0.0005 . 0.0017 . . 0.0002 . 0.001 . . . . GLI2:NM_005270:exon3:c.G305A:p.R102Q . . 0.46031746 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.939 . @ . . . . . 1 1.000 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R102Q|GLI2|mRNA|CODING|NM_005270|NM_005270.ex.3) 0.0009 0.0003 . 0.0009 0.0003 . . 0.5819 0.584 0.582 c . . . . . 1.026e-04 . . . 0.0009 0.0001 8.649e-05 0.0004 0 2.393e-05 0 0 0.0009 0.0001 8.916e-05 0.0003 0 1.844e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.700 . . exonic exonic exonic . . 0.505 0.0002 . . . 0.66 0.61 182 ENSG00000074047 GLI2 GLI2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.788 0.110 . . 37 . 0.792 . . 0.819 . . . 0.718 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.899 . . 0.764 . . . . . . 0 0.721 . . . . . 0.626 . 0.760 . HET 0.01 rs148442092 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0017482517482517483 0.0 13.8195 0.00107 . V.18 IV.31 . 0.010000 . . . Name\x3dnsv834349 0.000308 . 0.986 . . IV.31 0.0006 8.535e-05 5.957e-05 0 0.0003 4.485e-05 1.793e-05 0.0002 3.249e-05 0.0015 0.0004 0 0 0 0 0 0 . . 0.567 . 1.429 1.429000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.372 0.999 . 0.990 . 0.219 1.429 0.917 0.0017 . . rs148442092 rs148442092 1 1538 10 1/0 0,249,255 +rs180874513 2 122206041 G T - CLASP1 17088 Cytoplasmic linker associated protein 1 NM_015282.2 -1 8092 4617 NP_056097.1 Q7Z460 substitution intron GRCh37 122206041 122206041 Chr2(GRCh37):g.122206041G>T 1692-140 1692-140 NM_015282.2:c.1692-140C>A p.? p.? 18 17 605852 -140 3' 82.3558 5.83188 0.86964 5.80546 82.3558 5.83188 0.86964 5.80546 0 rs180874513 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000800 0.001000 0.000000 0.001000 0.000000 0.002582 0.000801 0.001193 0.003311 0.000000 0.000000 0.004264 0.001432 0.002037 0.004264 80 7 1 1 0 0 64 5 2 30980 8734 838 302 1622 0 15010 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 7 1 1 0 0 64 5 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion C A C>A 0.000 0.044 111 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0006 . . 0.001 0.001 . . . . . 1.0 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . 0.0480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.27 0.13 182 ENSG00000074054 CLASP1 CLASP1 . . . . . . 248 0.00381679 64976 245 0.00408429 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs180874513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.44 . . . . . . . . . 0.0008 0.0026 0.0012 0.0033 0 0.0014 0.0043 0.0020 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.002 . . rs180874513 rs180874513 1 1538 255 1.I 0,0,255 +rs114237530 (chr2:127657129 C/T) 2 127657129 C T Not on a known gene +. 2 128284233 C G - IWS1 25467 IWS1 homolog (S. cerevisiae) NM_017969.2 -1 3000 2460 NP_060439.2 Q96ST2 substitution upstream GRCh37 128284233 128284233 Chr2(GRCh37):g.128284233C>G -449 -449 NM_017969.2:c.-449G>C p.? p.? 1 -483 5' 80.5382 VI.52 0.50967 8.08367 80.5382 VI.52 0.50967 8.08367 0 Cryptic Acceptor Strongly Activated 128284227 0.002075 1.20614 0.026387 65.6843 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 0.000019 1 0 0 0 0 0 1 0 0 143680 6490 23850 8098 10122 22594 52098 16656 3772 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 75 Exomes transversion G C G>C 0.000 -0.602 255 PASS . . . . . . . . . . . ENSG00000163166:ENST00000409725:exon1:c.G28C:p.D10H . . . . 0.53125 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.144 . @ . . . . . 3 0.041 . . 32.0 . . UPSTREAM(MODIFIER||||IWS1|mRNA|CODING|NM_017969|) . . . . . . . -0.7792 -1.004 -0.779 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic upstream upstream . . 0.045 @ . . . . . . ENSG00000163166 IWS1 IWS1 . . . 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.344 . . 0.411 . . . . . . . . . . . . . . . . . . . . 0.092 . . . . . . 0 . . . . . . . . . . . . 0 0.274 . . . . . 0.144 . 0.219 . HET 0.14 . . . . . . . . . . . . . 5.1851 . ENST00000409725 III.87 -3.39 . 0.040000 . . . . . . 0.054 . . . 0 6.96e-06 0 0 0 0 1.919e-05 0 0 . . . . . . . . . . 0.040 . -0.661 -0.661000 . . 0.040000 . . 1.0E-255 0.000 0.063 . 0.117 0.008 . 0.027 . 0.490 -0.661 0.598 . . . . . 1 1538 10 1/0 0,255,255 +rs201089507 2 128750924 C T - SAP130 29813 Sin3A-associated protein, 130kDa NM_001145928.1 -1 4173 3252 NP_001139400.1 substitution intron GRCh37 128750924 128750924 Chr2(GRCh37):g.128750924C>T 1434-42 1434-42 NM_001145928.1:c.1434-42G>A p.? p.? 12 11 609697 -42 3' 83.838 X.15 0.892872 5.63564 83.838 X.15 0.892872 5.58987 0 rs201089507 yes no Frequency 1 C 0.000000 0 0.000870 0.000044 0.000350 0.000000 0.000000 0.001019 0.000543 0.004770 0.000189 0.004770 205 1 9 0 0 23 61 110 1 235708 22636 25712 7110 17054 22572 112270 23062 5292 0.000017 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000087 0.000000 2 0 0 0 0 1 0 1 0 201 1 9 0 0 21 61 108 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 64 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5588235 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.1151 . . . . . . . . 7.977e-04 . . . 9.812e-05 0.0007 8.729e-05 0 0.0042 0.0006 0 0.0009 0.0001 0.0007 9.001e-05 0 0.0039 0.0006 0 0.0010 . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.26 182 ENSG00000136715 SAP130 SAP130 . . . . . . 45 0.000692563 64976 45 0.000750175 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201089507 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834367 0.000154 . . . . . 7.188e-05 0.0009 0.0004 0 0 0.0049 0.0006 0.0002 0.0010 0 0.0006 0 0 0 0.0043 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs201089507 rs201089507 1 1538 10 1/0 0,255,255 +rs549294387 2 130872766 A T - POTEF 33905 POTE ankyrin domain family, member F NM_001099771.2 -1 4337 3228 NP_001093241.1 A5A3E0 substitution intron GRCh37 130872766 130872766 Chr2(GRCh37):g.130872766A>T 636+21 636+21 NM_001099771.2:c.636+21T>A p.? p.? 4 4 21 5' 83.7411 9.54919 0.994824 2.63061 83.7411 9.54919 0.994824 2.45694 0 rs549294387 yes no Frequency/1000G 2 0.000000 0 0.096845 0.071100 0.135000 0.112100 0.065600 0.115300 0.000004 0.000000 0.000000 0.000000 0.000053 0.000000 0.000000 0.000000 0.000000 0.000053 1 0 0 0 1 0 0 0 0 273530 23152 34218 10042 18750 30678 124644 25668 6378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.851 177 PASS . . . . . 0.071 0.097 0.12 0.11 0.066 0.14 ENSG00000196604:ENST00000361163:exon2:c.T657A:p.Y219X . . . . 0.10752688 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.066 . @ . . . . . 2 0.482 . . 93.0 . . INTRON(MODIFIER||||POTEF|mRNA|CODING|NM_001099771|) . . . . . . . -0.8232 -1.015 -0.823 c . . . . . 2.392e-05 . . . 0 2.352e-05 0 0.0002 0 0 0.0014 0 0 2.008e-05 0 0.0003 0 0 0 0 stopgain . . . . . exonic intronic intronic . . 0.197 0.0968 . . . . . . ENSG00000196604 POTEF POTEF . . . 0.000 0.029 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.113 . . . LowAF 0 rs549294387 . . . . . . . . . . . . IV.91 . ENST00000361163 I.13 I.13 . 0.820000 . . . . . . 0.065 . . . 0 0 0 0 0 0 0 0 0 0 3.268e-05 0 0 0.0006 0 0 0 . . 0.133 . 0.780 0.780000 . . 0.820000 . . 1.0E-177 0.000 0.063 . 0.074 0.034 . 0.091 . 0.284 0.780 0.800 . . . . . 1 1538 10 1/0 0,230,255 +rs199735440 2 130872772 T G - POTEF 33905 POTE ankyrin domain family, member F NM_001099771.2 -1 4337 3228 NP_001093241.1 A5A3E0 substitution intron GRCh37 130872772 130872772 Chr2(GRCh37):g.130872772T>G 636+15 636+15 NM_001099771.2:c.636+15A>C p.? p.? 4 4 15 5' 83.7411 9.54919 0.994824 2.63061 83.7411 9.54919 0.994824 2.77375 0 rs199735440 yes no Frequency 1 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000107 0.000000 0.000000 0.000039 0.000000 0.000107 3 0 0 0 2 0 0 1 0 273174 23084 34178 10022 18730 30638 124512 25640 6370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.521 197 PASS . . . . . . . . . . . ENSG00000196604:ENST00000361163:exon2:c.A651C:p.Q217H . . . . 0.1509434 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.075 . @ . . . . . 2 0.027 . . 106.0 . . INTRON(MODIFIER||||POTEF|mRNA|CODING|NM_001099771|) . . . . . . . -0.8606 -1.122 -0.861 c . . . . . 2.403e-05 . . . 0 2.354e-05 0 0.0002 0 0 0.0015 0 0 2.009e-05 0 0.0003 0 0 0 0 nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.066 @ . . . 0.37 0.42 182 ENSG00000196604 POTEF POTEF . . . 0.000 0.029 . . . . . . . . . 0 . . . . . . T 0.000 0.000 . . 37 . 0.216 . . 0.316 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.105 . 0.044 . HET 0.09 rs199735440 . . . . . . . . . . . . IV.41 . ENST00000361163 I.13 -2.2 . 0.050000 . . . . . . 0.032 . . . 0 0 0 0 0 0 0 0 0 0 9.827e-05 0 0 0.0013 0.0003 0 0 . . 0.133 . -0.560 -0.560000 . . 0.050000 . . 1.0E-197 0.000 0.063 . 0.062 0.005 . 0.152 . 0.035 -0.560 -1.019 . . . rs199735440 rs199735440 1 1538 10 1/0 0,228,255 +rs200596208 2 130872791 A G - POTEF 33905 POTE ankyrin domain family, member F NM_001099771.2 -1 4337 3228 NP_001093241.1 A5A3E0 substitution missense exon GRCh37 130872791 130872791 Chr2(GRCh37):g.130872791A>G 632 632 NM_001099771.2:c.632T>C p.Ile211Thr p.Ile211Thr 4 -5 5' 83.7411 9.54919 0.994824 2.63061 83.7411 9.54919 0.991443 III.27 -0.00113286 Ankyrin repeat Ankyrin repeat-containing domain rs200596208 yes no Frequency 1 0.000000 0 0.000059 0.000087 0.000029 0.000000 0.000215 0.000033 0.000040 0.000079 0.000158 0.000215 16 2 1 0 4 1 5 2 1 271238 22942 34008 9990 18562 30466 123516 25430 6324 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 1 0 4 1 5 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1191781|COSM1191781|COSM1191781|COSM1191781|COSM1191781 Upper aerodigestive tract|Thyroid|Liver|Large intestine|Central nervous system 0.001608|0.002677|0.000422|0.000450|0.000420 1244|747|2371|2220|2383 transition T C T>C 0.992 0.367 I Ile ATA 0.163 T Thr ACA 0.280 211 15 1 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.91 IV.32 221 PASS . . . . . . . . . . . . POTEF:uc010fmh.2:exon4:c.T632C:p.I211T POTEF:NM_001099771:exon4:c.T632C:p.I211T . . 0.21698113 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.062 . @ . . . . . 1 0.027 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I211T|POTEF|mRNA|CODING|NM_001099771|NM_001099771.ex.4) . . . . . . . -1.3381 -1.379 -1.338 c . . . . . 3.225e-05 . . . 0.0001 2.398e-05 0 0 0 0 0 6.257e-05 0 1.021e-05 0 0 0 0 0 6.292e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.648 . . exonic exonic exonic . . 0.126 @ . . . 0.37 0.33 182 ENSG00000196604 POTEF POTEF . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.058 . . . . T 0.170 0.006 . . 37 . 0.444 . . 0.165 . . . 0.274 0.202 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.540 . . 0 0 0 0 0 0 . 0.174 . . 0.139 . . . . . . 0 0.220 . . . . . 0.092 . 0.399 . HET 0.21 rs200596208 . . . . . . . . . . . . 4.0452 . . I.13 -0.185 . 0.590000 A5A3E0 . . . . . 0.265 . . . 0 2.073e-05 0 0 0 0 3.673e-05 0 3.282e-05 0.0002 0.0004 0.0012 0 0.0027 0.0006 6.837e-05 0.0010 . . 0.133 . -0.249 -0.249000 . . 0.590000 . . 1.0E-221 0.999 0.424 . 0.016 0.003 . 0.439 . 0.002 -0.249 0.800 . . . rs200596208 rs200596208 1 1538 10 1/0 0,234,255 +rs574350751 2 131220830 C T - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution missense exon GRCh37 131220830 131220830 Chr2(GRCh37):g.131220830C>T 2787 2787 NM_001277406.1:c.2787G>A p.Met929Ile p.Met929Ile 15 888 3' 80.198 5.09505 0.952462 4.87861 80.198 5.09505 0.952462 4.87861 0 Actin-related protein rs574350751 yes no Frequency/1000G 2 C 0.174521 C 874 0.802516 0.565100 0.917200 0.852200 0.917500 0.854500 0.002988 0.002319 0.014706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.014706 12 8 4 0 0 0 0 0 0 4016 3450 272 0 14 102 122 6 50 0.000996 0.000000 0.014706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 8 8 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 0.367 M Met ATG 1.000 I Ile ATA 0.163 929 12 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.07 II.86 255 PASS . . . . . 0.57 0.8 0.85 0.85 0.92 0.92 ENSG00000196834:ENST00000451531:exon15:c.G2787A:p.M929I POTEI:uc031rpa.1:exon15:c.G2787A:p.M929I POTEI:NM_001277406:exon15:c.G2787A:p.M929I . . 0.57894737 . . @ 22 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.182 . @ . . . . . 1 0.244 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M929I|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.15) . . . . . . . -0.7819 -0.860 -0.782 c . . . . . 2.477e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . . 0.1745 . . . 0.27 0.13 182 ENSG00000196834 POTEI POTEI . . . 0.000 0.012 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.023 . . 0.393 . . . 0.021 0.182 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.127 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.682 . . . . . 0.052 . 0.030 . HET 0 rs574350751 . . . . . . . . . . . . II.68 . ENST00000451531 . . . 0.000000 . . . . . . 0.132 . . . 0 0.0014 0.0150 . 0 0 0 0 0 0.0076 0.0074 0 . . 0 0 0 . . 0.246 . 0.119 0.119000 . . 0.000000 . . 1.0E-255 0.994 0.380 . 0.153 0.945 . 0.135 . 0.246 0.119 -0.609 . rs7424053 rs7424053 rs7424053 rs7424053 1 1538 10 1/0 0,255,255 +. 2 131221103 G A - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution synonymous exon GRCh37 131221103 131221103 Chr2(GRCh37):g.131221103G>A 2514 2514 NM_001277406.1:c.2514C>T p.Ala838= p.Ala838Ala 15 615 3' 80.198 5.09505 0.952462 4.87861 80.198 5.09505 0.952462 4.87861 0 Actin-related protein 0.000039 0.000077 0.000000 0.000573 0.000000 0.000000 0.000018 0.000000 0.000313 0.000573 5 1 0 2 0 0 1 0 1 127960 12948 18530 3490 10356 12930 56944 9564 3198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.205 A Ala GCC 0.403 A Ala GCT 0.263 838 184 PASS . . . . . . . . . . . ENSG00000196834:ENST00000451531:exon15:c.C2514T:p.A838A POTEI:uc031rpa.1:exon15:c.C2514T:p.A838A POTEI:NM_001277406:exon15:c.C2514T:p.A838A . . 0.12105263 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 190.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A838|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.15) . . . . . . . -0.0453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196834 POTEI POTEI . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.837e-06 0 0.0003 0 0 0 0 0 0.0002 0.0003 0 0.0078 0 0 0.0001 0.0024 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,201,255 +rs2259635 2 131246963 G A - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution intron GRCh37 131246963 131246963 Chr2(GRCh37):g.131246963G>A 1198-111 1198-111 NM_001277406.1:c.1198-111C>T p.? p.? 8 7 -111 3' 90.8063 X.64 0.924058 4.48283 90.8063 X.64 0.924058 4.48283 0 rs2259635 no no 0 G 0.000000 0 0.001064 0.001073 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001073 1 1 0 0 0 0 0 0 0 940 932 6 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition C T C>T 0.472 0.044 255 PASS . . . . . . . . . . . . . . . . 0.56666666 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||POTEI|mRNA|CODING|NM_001277406|) . . . . . . . -0.2913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196834 POTEI POTEI . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2259635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0011 0 . . . 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2259635 rs2259635 rs2259635 rs2259635 1 1538 10 1/0 0,255,255 +rs28624496 2 131266613 A G - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution missense exon GRCh37 131266613 131266613 Chr2(GRCh37):g.131266613A>G 196 196 NM_001277406.1:c.196T>C p.Cys66Arg p.Cys66Arg 1 -326 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs28624496 yes no Frequency/1000G 2 G 0.000000 0 0.007987 0.000800 0.015300 0.001000 0.017900 0.007200 0.000042 0.000093 0.000000 0.000000 0.000000 0.000131 0.000042 0.000000 0.000000 0.000131 11 2 0 0 0 4 5 0 0 265026 21526 34014 9886 18108 30466 119710 25190 6126 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 0 0 0 4 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.035 -2.700 C Cys TGC 0.552 R Arg CGC 0.190 66 12 1 -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 353.86 0.00 Tolerated 0.63 IV.32 220 PASS . . . . . 0.0008 0.008 0.0072 0.001 0.018 0.015 ENSG00000196834:ENST00000451531:exon1:c.T196C:p.C66R POTEI:uc031rpa.1:exon1:c.T196C:p.C66R POTEI:NM_001277406:exon1:c.T196C:p.C66R . . 0.21341464 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.001 . . 164.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C66R|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.1) . . . . . . . -1.8558 -2.060 -1.856 c . . . . . . . . . 0.0004 0.0005 0 0 0 0.0009 0 0.0001 0 6.29e-05 0 0 0 0.0001 0 6.414e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.757 . . exonic exonic exonic . . 0.124 0.0080 . . . 0.3 0.08 182 ENSG00000196834 POTEI POTEI . . . 0.000 0.062 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.526 . . 0.497 . . . 0.085 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.080 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.054 . HET 0.9 rs28624496 . . . . . . . . . . . . . . ENST00000451531 0.109 -0.218 . 1.000000 . . . . . . 0.001 . . . 0 2.49e-05 0 0 0 0 1.841e-05 0 0.0001 0.0003 0.0002 0 0 0 0 0.0003 0 . . 0.133 . -2.770 -2.770000 . . 1.000000 . . 1.0E-220 0.001 0.137 . 0.043 0.171 . 0.018 . 0.003 -2.770 -2.067 . rs28624496 rs28624496 rs28624496 rs28624496 1 1538 10 1/0 0,215,255 +rs547816996 2 131266641 T C - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution synonymous exon GRCh37 131266641 131266641 Chr2(GRCh37):g.131266641T>C 168 168 NM_001277406.1:c.168A>G p.Thr56= p.Thr56Thr 1 -354 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs547816996 yes no Frequency/1000G 2 T 0.000000 0 0.009984 0.027200 0.014300 0.000000 0.000000 0.000000 0.002139 0.021408 0.001213 0.004789 0.000000 0.001249 0.000198 0.000000 0.001530 0.021408 549 391 41 47 0 38 23 0 9 256698 18264 33792 9814 17624 30428 116140 24752 5884 0.000101 0.001095 0.000000 0.000611 0.000000 0.000000 0.000000 0.000000 0.000000 13 10 0 3 0 0 0 0 0 523 371 41 41 0 38 23 0 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.016 0.125 T Thr ACA 0.280 T Thr ACG 0.116 56 169 PASS . . . . . 0.027 0.01 . . . 0.014 ENSG00000196834:ENST00000451531:exon1:c.A168G:p.T56T POTEI:uc031rpa.1:exon1:c.A168G:p.T56T POTEI:NM_001277406:exon1:c.A168G:p.T56T . . 0.12686567 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 134.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T56|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.1) . . . . . . . -0.4117 . . . . . . . . 2.240e-03 . . . 0.0225 0.0031 0.0016 0 0 0.0007 0.0044 0.0014 0.0223 0.0022 0.0015 0 0 0.0004 0.0015 0.0014 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0100 . . . . . . ENSG00000196834 POTEI POTEI . . . . . . 59 0.000908028 64976 13 0.000216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs547816996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0198 0.0018 0.0012 0.0048 0 0 0.0002 0.0017 0.0012 0.0268 0.0074 0.0037 0.0066 0 0 0.0004 0 . . . . . . . . . . . 1.0E-169 . . . . . . . . . . . . . rs72483397 . . 1 1538 10 1/0 0,217,255 +. 2 131266652 T C - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution missense exon GRCh37 131266652 131266652 Chr2(GRCh37):g.131266652T>C 157 157 NM_001277406.1:c.157A>G p.Thr53Ala p.Thr53Ala 1 -365 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240530 14128 33246 9662 16644 30478 108756 22236 5380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 77 Exomes transition A G A>G 0.004 -2.942 T Thr ACT 0.243 A Ala GCT 0.263 53 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.94 IV.32 200 PASS . . . . . . . . . . . ENSG00000196834:ENST00000451531:exon1:c.A157G:p.T53A POTEI:uc031rpa.1:exon1:c.A157G:p.T53A POTEI:NM_001277406:exon1:c.A157G:p.T53A . . 0.16 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.000 . . 125.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T53A|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.1) . . . . . . . -2.2406 -2.338 -2.241 c . . . . . 8.162e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.753 . . exonic exonic exonic . . 0.124 @ . . . . . . ENSG00000196834 POTEI POTEI . . . 0.000 0.071 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.092 0.004 . . 37 . 0.295 . . 0.110 . . . 0.007 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.030 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.200 . HET 1 . . . . . . . . . . . . . . . ENST00000451531 0.109 -0.218 . 1.000000 . . . . . . 0.003 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -2.995 -2.995000 . . 1.000000 . . 1.0E-200 0.001 0.137 . 0.016 0.326 . 0.019 . 0.001 -2.995 0.062 . . . . . 1 1538 10 1/0 0,222,255 +rs879223160 2 131266662 C G - POTEI 37093 POTE ankyrin domain family, member I NM_001277406.1 -1 3228 3228 NP_001264335.1 P0CG38 substitution missense exon GRCh37 131266662 131266662 Chr2(GRCh37):g.131266662C>G 147 147 NM_001277406.1:c.147G>C p.Gln49His p.Gln49His 1 -375 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs879223160 no no 0 C 0.000000 0 0.000192 0.000181 0.000247 0.000542 0.000000 0.000334 0.000163 0.000041 0.000366 0.000542 47 3 8 5 0 10 18 1 2 244674 16618 32362 9232 16870 29910 110112 24108 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 3 8 5 0 10 18 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.031 -1.247 Q Gln CAG 0.744 H His CAC 0.587 49 12 3 Olive baboon 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Tolerated 0.22 IV.32 226 PASS . . . . . . . . . . . ENSG00000196834:ENST00000451531:exon1:c.G147C:p.Q49H POTEI:uc031rpa.1:exon1:c.G147C:p.Q49H POTEI:NM_001277406:exon1:c.G147C:p.Q49H . . 0.23015873 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.000 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q49H|POTEI|mRNA|CODING|NM_001277406|NM_001277406.ex.1) . . . . . . . -1.4720 -1.651 -1.472 c . . . . . 8.222e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.759 . . exonic exonic exonic . . 0.124 @ . . . . . . ENSG00000196834 POTEI POTEI . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.113 0.005 . . 37 . 0.468 . . 0.345 . . . 0.020 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.029 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.012 . HET 1 . . . . . . . . . . . . . . . ENST00000451531 0.109 -0.218 . 1.000000 . . . . . . 0.007 . . . 0 0.0002 0.0002 0.0005 0 0 0.0002 0.0004 0.0003 0.0010 0.0004 0 0 0 0.0005 0 0 . . 0.133 . -1.254 -1.254000 . . 1.000000 . . 1.0000000000000001E-226 0.001 0.137 . 0.062 0.334 . 0.037 . 0.019 -1.254 0.057 . . . . . 1 1538 10 1/0 0,228,255 +rs62164861 2 131280812 G A - CFC1B 33983 Cripto, FRL-1, cryptic family 1B NM_001079530.1 1 1160 672 NP_001072998.1 P0CG36 substitution missense exon GRCh37 131280812 131280812 Chr2(GRCh37):g.131280812G>A 433 433 NM_001079530.1:c.433G>A p.Ala145Thr p.Ala145Thr 5 -40 5' 83.1053 VIII.62 0.961412 9.11913 83.1053 VIII.62 0.961412 9.0683 0 Cryptic/Cripto, CFC domain rs62164861 yes no Frequency/1000G 2 G 0.000000 0 transition G A G>A 0.213 -0.037 A Ala GCC 0.403 T Thr ACC 0.361 145 13 9 Megabat 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 109.43 0.00 Tolerated 0.43 3.III good 3.461E-1 0.1551 255 PASS 0.02 0.05 0.05 0.01 0.09 . . . . . . ENSG00000152093:ENST00000281882:exon5:c.G433A:p.A145T CFC1B:uc002trl.2:exon5:c.G433A:p.A145T CFC1B:NM_001079530:exon5:c.G433A:p.A145T . . 0.5588235 . . @ 114 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.212 . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A145T|CFC1B|mRNA|CODING|NM_001079530.2|NM_001079530.2.ex.5) . . . . . . . -1.3249 -1.324 -1.325 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.823 . . exonic exonic exonic . . 0.146 @ . ENSG00000072135.8|ENSG00000184761.7 Esophagus_Mucosa|Testis 0.42 0.41 182 ENSG00000152093 CFC1B CFC1B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.110 . . . . T 0.254 0.010 . . 37 . 0.056 . . 0.153 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.098 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.039 . . . . . 0.061 . 0.185 . HET 0.42 rs62164861 . . . . . . . 0.046703296703296704 0.016260162601626018 0.049723756906077346 0.008741258741258742 0.09366754617414248 3.1548 . ENST00000281882 III.17 0.234 . 0.490000 P0CG36 . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.028 0.028000 . . 0.490000 . . 1.0E-255 0.000 0.063 . 0.313 0.039 . 0.245 . 0.132 0.028 -0.919 0.09 rs62164861 rs62164861 rs62164861 rs200159465 1 1538 10 1/0 0,226,230 +. 2 131280929 G T - CFC1B 33983 Cripto, FRL-1, cryptic family 1B NM_001079530.1 1 1160 672 NP_001072998.1 P0CG36 substitution intron GRCh37 131280929 131280929 Chr2(GRCh37):g.131280929G>T 472+78 472+78 NM_001079530.1:c.472+78G>T p.? p.? 5 5 78 5' 83.1053 VIII.62 0.961412 9.11913 83.1053 VIII.62 0.961412 9.49804 0 Cryptic Acceptor Strongly Activated 131280938 5.25307 0.20634 68.925 7.17718 0.670352 74.3777 transversion G T G>T 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.4369748 . . @ 104 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 238.0 . . INTRON(MODIFIER||||CFC1B|mRNA|CODING|NM_001079530.2|) . . . . . . . -0.1899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000225819 CFC1B CFC1B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 2 131354989 C A - CFC1 18292 Cripto, FRL-1, cryptic family 1 NM_032545.3 -1 1672 672 NP_115934.1 P0CG37 substitution intron GRCh37 131354989 131354989 Chr2(GRCh37):g.131354989C>A 472+78 472+78 NM_032545.3:c.472+78G>T p.? p.? 5 5 605194 78 5' 83.1053 VIII.62 0.961412 9.11913 83.1053 VIII.62 0.961412 9.49804 0 Cryptic Acceptor Strongly Activated 131354980 5.25307 0.20634 68.925 7.17718 0.670352 74.3777 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 0 0 0 10 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4236 Genomes transversion G T G>T 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.4108527 . . @ 106 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 258.0 . . . . . . . . . . 0.0669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000136698 CFC1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,237 +rs557993656 2 131369262 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131369262 131369262 Chr2(GRCh37):g.131369262A>G 157 157 NM_001277083.1:c.157A>G p.Thr53Ala p.Thr53Ala 1 -254 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs557993656 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.005300 0.001000 0.000000 0.002000 0.000000 0.000416 0.001650 0.000154 0.000108 0.000110 0.000033 0.000394 0.000910 0.000350 0.001650 103 26 5 1 2 1 44 22 2 247516 15762 32508 9284 18244 30158 111676 24176 5708 0.000008 0.000127 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 101 24 5 1 2 1 44 22 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.861 T Thr ACT 0.243 A Ala GCT 0.263 53 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.82 IV.32 255 PASS . . . . . 0.0053 0.002 . . 0.002 0.001 ENSG00000222038:ENST00000409602:exon1:c.A157G:p.T53A POTEJ:uc021vor.2:exon1:c.A157G:p.T53A POTEJ:NM_001277083:exon1:c.A157G:p.T53A . . 0.5116279 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.000 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T53A|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.1) . . . . . . . -2.1928 -2.283 -2.193 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.740 . . exonic exonic exonic . . 0.124 0.0020 . . . . . . ENSG00000222038 POTEJ POTEJ . . . 0.000 0.071 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.127 0.005 . . 37 . 0.285 . . 0.109 . . . 0.003 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.042 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.007 . HET 1 rs557993656 . . . . . . . . . . . . . . ENST00000409602 0.109 -0.218 . 1.000000 . . . . . . 0.002 . . . 0.0019 0.0002 0.0002 0.0001 0.0001 0 0.0002 0 3.316e-05 0.0011 0.0025 0 0 0 0.0074 0.0023 0.0029 . . 0.133 . -2.983 -2.983000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.400 . 0.035 . 0.001 -2.983 0.066 . . . . . 1 1538 10 1/0 0,255,255 +rs777955434 2 131369273 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution synonymous exon GRCh37 131369273 131369273 Chr2(GRCh37):g.131369273A>G 168 168 NM_001277083.1:c.168A>G p.Thr56= p.Thr56Thr 1 -243 5' 78.4708 8.54931 0.957079 11.0378 78.4708 8.54931 0.957079 11.0378 0 rs777955434 yes no Frequency 1 G 0.000000 0 0.000617 0.004366 0.000284 0.000652 0.000000 0.000100 0.000429 0.000649 0.000911 0.004366 149 64 9 6 0 3 47 15 5 241596 14660 31642 9206 17868 30030 109576 23128 5486 0.000017 0.000273 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 144 60 9 6 0 2 47 15 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.012 0.125 T Thr ACA 0.280 T Thr ACG 0.116 56 162 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon1:c.A168G:p.T56T POTEJ:uc021vor.2:exon1:c.A168G:p.T56T POTEJ:NM_001277083:exon1:c.A168G:p.T56T . . 0.33333334 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T56|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.1) . . . . . . . -0.1298 . . . . . . . . 2.499e-05 . . . 0.0005 4.921e-05 0 0 0 0 0 7.038e-05 0.0003 2.649e-05 0 0 0 0 0 7.073e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs777955434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0049 0.0005 0.0003 0.0006 0 0 0.0004 0.0010 9.99e-05 0.0028 0.0025 0.0022 0.0065 0 0.0081 0.0014 0 . . . . . . . . . . . 1.0E-162 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 131374401 G A - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131374401 131374401 Chr2(GRCh37):g.131374401G>A 449 449 NM_001277083.1:c.449G>A p.Gly150Glu p.Gly150Glu 2 39 3' 80.4224 6.24144 0.844189 5.64224 80.4224 6.24144 0.844189 5.56787 0 Ankyrin repeat Ankyrin repeat-containing domain transition G A G>A 0.803 0.044 G Gly GGA 0.246 E Glu GAA 0.417 150 12 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 231.75 0.00 Tolerated 1 II.83 187 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon2:c.G449A:p.G150E POTEJ:uc021vor.2:exon2:c.G449A:p.G150E POTEJ:NM_001277083:exon2:c.G449A:p.G150E . . 0.12765957 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.026 . @ . . . . . 1 0.092 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G150E|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.2) . . . . . . . -1.2164 -1.302 -1.216 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . 0.124 @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.172 . . 0.274 . . . 0.003 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.038 . 0.107 . LowAF 1 . . . . . . . . . . . . . II.95 . ENST00000409602 I.18 -0.225 . 1.000000 . . . . . . 0.057 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.600 -0.600000 . . 1.000000 . . 1.0E-187 0.962 0.335 . 0.043 0.002 . 0.193 . 0.092 -0.600 -0.066 . . . . . 1 1538 10 1/0 0,231,255 +. 2 131374497 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution intron GRCh37 131374497 131374497 Chr2(GRCh37):g.131374497A>G 525+20 525+20 NM_001277083.1:c.525+20A>G p.? p.? 2 2 20 5' 83.7411 9.54919 0.991443 3.53968 83.7411 9.54919 0.991443 3.93187 0 transition A G A>G 0.000 -1.570 181 PASS . . . . . . . . . . . . . . . . 0.116071425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 112.0 . . INTRON(MODIFIER||||POTEJ|mRNA|CODING|NM_001277083|) . . . . . . . -0.6117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 2 131374503 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution intron GRCh37 131374503 131374503 Chr2(GRCh37):g.131374503A>G 525+26 525+26 NM_001277083.1:c.525+26A>G p.? p.? 2 2 26 5' 83.7411 9.54919 0.991443 3.53968 83.7411 9.54919 0.991443 3.26164 0 New Donor Site 131374502 3.16681 0.431172 68.0404 transition A G A>G 0.000 -1.328 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . INTRON(MODIFIER||||POTEJ|mRNA|CODING|NM_001277083|) . . . . . . . -0.6625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +. 2 131387506 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution intron GRCh37 131387506 131387506 Chr2(GRCh37):g.131387506A>G 1016-16 1016-16 NM_001277083.1:c.1016-16A>G p.? p.? 7 6 -16 3' 79.1411 7.45096 0.156537 2.72844 79.1411 7.97158 0.102449 3.15765 -0.0918851 0.004337 0.042056 0.000000 0.000000 0.000000 0.000000 0.001087 0.000000 0.000000 0.042056 10 9 0 0 0 0 1 0 0 2306 214 196 22 114 178 920 556 106 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 9 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.161 0.044 226 PASS . . . . . . . . . . . . . . . . 0.23404256 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||POTEJ|mRNA|CODING|NM_001277083|) . . . . . . . -0.2397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 . 0 0 0 0.0425 0.0054 0 0 0 0 0.0012 0 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 131403652 G A - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution intron GRCh37 131403652 131403652 Chr2(GRCh37):g.131403652G>A 1486-50 1486-50 NM_001277083.1:c.1486-50G>A p.? p.? 13 12 -50 3' 89.3117 10.065 0.972687 9.55518 89.3117 10.065 0.972687 9.42553 0 Cryptic Acceptor Strongly Activated 131403656 2.09227 0.072435 IV.52 0.238035 71.1648 0.000322 0.000720 0.000146 0.000000 0.000000 0.000116 0.000409 0.000310 0.000333 0.000720 36 8 2 0 0 1 19 5 1 111846 11104 13744 2762 10026 8600 46494 16110 3006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 8 2 0 0 1 19 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 9.0 . . INTRON(MODIFIER||||POTEJ|mRNA|CODING|NM_001277083|) . . . . . . . -0.5481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.34 182 ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.505e-05 0.0002 0 0 0 0 0 0.0001 0.0013 0.0013 0 0 0 0.0015 0.0014 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2599821 rs2599821 rs2599821 rs2599821 1 1538 10 1/0 0,255,255 +. 2 131403723 G A - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131403723 131403723 Chr2(GRCh37):g.131403723G>A 1507 1507 NM_001277083.1:c.1507G>A p.Glu503Lys p.Glu503Lys 13 22 3' 89.3117 10.065 0.972687 9.55518 89.3117 10.065 0.972687 9.13606 0 0.000041 0.000000 0.000000 0.000000 0.000127 0.000000 0.000070 0.000000 0.000000 0.000127 3 0 0 0 1 0 2 0 0 73676 5632 9472 1344 7876 5782 28598 12944 2028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.117 E Glu GAA 0.417 K Lys AAA 0.425 503 12 4 Chicken 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.52 II.81 255 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon13:c.G1507A:p.E503K POTEJ:uc021vor.2:exon13:c.G1507A:p.E503K POTEJ:NM_001277083:exon13:c.G1507A:p.E503K . . 0.33333334 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.332 . @ . . . . . 1 0.326 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E503K|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.13) . . . . . . . -0.7957 -1.024 -0.796 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.811 . . exonic exonic exonic . . 0.119 @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.088 0.004 . . 37 . 0.689 . . 0.610 . . . 0.719 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.062 . 0.287 . HET 0 . . . . . . . . . . . . . III.22 . ENST00000409602 0.686 -0.363 . 0.000000 . . . . . . 0.029 . . . 0 1.802e-05 0 0 0.0001 0 0 0 0 0 0.0001 0 0 0 0 0.0002 0 . . 0.133 . -0.146 -0.146000 . . 0.000000 . . 1.0E-255 0.055 0.214 . 0.043 0.027 . 0.329 . 0.056 -0.146 0.150 . . . . . 1 1538 10 1/0 0,255,255 +. 2 131403823 G A - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131403823 131403823 Chr2(GRCh37):g.131403823G>A 1607 1607 NM_001277083.1:c.1607G>A p.Arg536Lys p.Arg536Lys 13 -61 5' 94.2214 9.88355 0.998854 5.79578 94.2214 9.88355 0.998854 5.80075 0 New Acceptor Site 131403825 0.638093 0.008395 74.4159 0.000823 0.001752 0.000667 0.000000 0.001165 0.002183 0.000728 0.000000 0.001028 0.002183 56 9 6 0 8 11 20 0 2 68060 5138 8992 1298 6868 5040 27468 11310 1946 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 9 6 0 8 11 20 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 R Arg AGG 0.207 K Lys AAG 0.575 536 12 3 Zebrafish 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Tolerated 1 II.83 255 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon13:c.G1607A:p.R536K POTEJ:uc021vor.2:exon13:c.G1607A:p.R536K POTEJ:NM_001277083:exon13:c.G1607A:p.R536K . . 0.3529412 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.083 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R536K|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.13) . . . . . . . -0.9235 -1.127 -0.923 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.809 . . exonic exonic exonic . . 0.124 @ . . . 0.37 0.34 182 ENSG00000222038 POTEJ POTEJ . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.033 0.002 . . 37 . 0.626 . . 0.505 . . . 0.520 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.107 . . . . . 0.062 . 0.176 . HET 0 . . . . . . . . . . . . . III.96 . ENST00000409602 0.778 -0.231 . 0.320000 . . . . . . 0.019 . . . 0 0.0005 0.0007 0 0.0010 0 0.0001 0.0008 0.0022 0.0027 0.0016 0 0 0.0018 0 0.0018 0.0014 . . 0.133 . -0.099 -0.099000 . . 0.320000 . . 1.0E-255 0.002 0.151 . 0.062 0.023 . 0.084 . 0.073 -0.099 0.150 . rs4044394 rs4044394 rs4044394 rs4044394 1 1538 10 1/0 0,255,255 +. 2 131414736 C T - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution synonymous exon GRCh37 131414736 131414736 Chr2(GRCh37):g.131414736C>T 2403 2403 NM_001277083.1:c.2403C>T p.Ala801= p.Ala801Ala 15 615 3' 80.198 5.09505 0.952462 4.48967 80.198 5.09505 0.952462 4.48967 0 Actin-related protein 0.000979 0.000436 0.001377 0.000000 0.000000 0.000000 0.001590 0.000597 0.000000 0.001590 25 3 1 0 0 0 19 2 0 25536 6884 726 194 1594 0 11952 3352 834 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 3 1 0 0 0 19 2 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition C T C>T 1.000 0.205 A Ala GCC 0.403 A Ala GCT 0.263 801 223 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon15:c.C2403T:p.A801A POTEJ:uc021vor.2:exon15:c.C2403T:p.A801A POTEJ:NM_001277083:exon15:c.C2403T:p.A801A . . 0.22131148 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A801|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.15) . . . . . . . 0.0548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0010 0.0014 0 0 0.0006 0.0016 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +rs756689031 2 131415073 A G - POTEJ 37094 POTE ankyrin domain family, member J NM_001277083.1 1 3277 3117 NP_001264012.1 P0CG39 substitution missense exon GRCh37 131415073 131415073 Chr2(GRCh37):g.131415073A>G 2740 2740 NM_001277083.1:c.2740A>G p.Ser914Gly p.Ser914Gly 15 952 3' 80.198 5.09505 0.952462 4.48967 80.198 5.09505 0.952462 4.48967 0 Actin-related protein 0.000101 0.000287 0.000088 0.000000 0.000106 0.000163 0.000074 0.000000 0.000318 0.000287 27 6 3 0 2 5 9 0 2 268000 20874 34000 9802 18826 30610 122028 25580 6280 0.000060 0.000000 0.000059 0.000000 0.000000 0.000131 0.000066 0.000000 0.000318 8 0 1 0 0 2 4 0 1 11 6 1 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 1.900 S Ser AGC 0.243 G Gly GGC 0.342 914 12 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.31 II.81 111 PASS . . . . . . . . . . . ENSG00000222038:ENST00000409602:exon15:c.A2740G:p.S914G POTEJ:uc021vor.2:exon15:c.A2740G:p.S914G POTEJ:NM_001277083:exon15:c.A2740G:p.S914G . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.057 . . 13.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S914G|POTEJ|mRNA|CODING|NM_001277083|NM_001277083.ex.15) . . . . . . . -1.5576 -1.503 -1.558 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . 0.174 @ . . . . . . ENSG00000222038 POTEJ POTEJ . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.294 0.011 . . 37 . 0.007 . . 0.417 . . . 0.000 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.133 . 0.056 . HOM 1 . . . . . . . . . . . . . IV.02 . ENST00000409602 0.736 0.736 . 1.000000 . . . . . . 0.044 . . . 7.436e-05 7.937e-05 6.025e-05 0 0 0 8.341e-05 0.0004 0.0002 0.0007 0.0003 0.0012 0 0.0013 0 0 0 . . 0.246 . -1.392 -1.392000 . . 1.000000 . . 1.0E-111 1.000 0.715 . 0.124 0.967 . 0.648 . 0.025 -1.392 -1.868 . . . . . 1 1538 255 1.I 0,0,255 +rs187664008 2 131829557 G A - FAM168B 27016 Family with sequence similarity 168 member B NM_001009993.3 -1 5435 588 NP_001009993.2 A1KXE4 substitution intron GRCh37 131829557 131829557 Chr2(GRCh37):g.131829557G>A 71-46 71-46 NM_001009993.3:c.71-46C>T p.? p.? 3 2 -46 3' 92.6888 9.41541 0.975489 7.12568 92.6888 9.41541 0.975489 7.55436 0 Cryptic Acceptor Weakly Activated 131829546 2.92492 0.186036 78.3998 2.58927 0.219851 82.5017 rs187664008 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.012300 0.000000 0.006000 0.001400 0.007894 0.001491 0.001679 0.017590 0.000000 0.008174 0.011153 0.007342 0.009335 0.017590 2044 32 56 167 0 222 1335 175 57 258932 21460 33352 9494 17824 27158 119702 23836 6106 0.000116 0.000000 0.000000 0.000843 0.000000 0.000074 0.000167 0.000000 0.000000 15 0 0 4 0 1 10 0 0 2000 29 56 152 0 217 1314 175 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.086 255 PASS . 0.0027 0.0028 . 0.01 . 0.0038 0.0014 . 0.006 0.012 . . . . . 0.68292683 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FAM168B|mRNA|CODING|NM_001009993|) . . . . . . . -0.1392 . . . . . . . . 7.898e-03 . . . 0.0013 0.0069 0.0012 0 0.0066 0.0097 0.0138 0.0088 0.0013 0.0083 0.0011 0 0.0085 0.0116 0.0125 0.0088 . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.4 0.18 182 ENSG00000152102 FAM168B FAM168B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187664008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0079 0.0017 0.0177 0 0.0073 0.0111 0.0097 0.0082 0.0019 0.0075 0 0.0134 0 0.0076 0.0117 0.0075 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187664008 rs187664008 1 1538 10 1/0 0,255,255 +rs763522445 2 131981279 T C - POTEE 33895 POTE ankyrin domain family, member E NM_001083538.1 1 3440 3228 NP_001077007.1 Q6S8J3 substitution missense exon GRCh37 131981279 131981279 Chr2(GRCh37):g.131981279T>C 632 632 NM_001083538.1:c.632T>C p.Ile211Thr p.Ile211Thr 2 608914 -5 5' 83.7411 9.54919 0.994824 2.43266 83.7411 9.54919 0.991443 3.38476 -0.00113286 Ankyrin repeat Ankyrin repeat-containing domain rs763522445 yes no Frequency 1 0.000000 0 0.001218 0.000200 0.000000 0.000000 0.014204 0.000459 0.000000 0.000000 0.000618 0.014204 154 3 0 0 144 5 0 0 2 126420 14984 13106 3474 10138 10896 53846 16738 3238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 154 3 0 0 144 5 0 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.992 0.448 I Ile ATA 0.163 T Thr ACA 0.280 211 12 4 Rat -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 92.35 0.00 Tolerated 0.13 II.85 good 2.578E-1 0.3032 180 PASS . . . . . . . . . . . . POTEE:uc002tsn.2:exon2:c.T632C:p.I211T POTEE:NM_001083538:exon2:c.T632C:p.I211T . . 0.11363637 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.018 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I211T|POTEE|mRNA|CODING|NM_001083538|NM_001083538.ex.2) . . . . . . . -1.3622 -1.382 -1.362 c . . . . . 1.231e-04 . . . 0 0.0013 0 0.0180 0 0 0 0 0 0.0009 0 0.0127 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.648 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000188219 POTEE POTEE . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.058 . . . . . . . . . 37 . 0.404 . . 0.156 . . . 0.360 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.174 . . 0.139 . . . . . . 0 0.046 . . . . . 0.090 . 0.345 . LowAF 0.2 rs763522445 . . . . . . . . . . . . 4.0041 . . I.16 -0.171 . 0.610000 Q6S8J3 . . . . . 0.248 . . . 0 0.0014 0 0 0.0147 0 0 0.0009 0.0005 0.0004 0.0007 0 0 0.0117 0 0 0 . . 0.133 . -0.227 -0.227000 . . 0.610000 . . 1.0E-180 1.000 0.715 . 0.016 0.003 . 0.377 . 0.002 -0.227 0.755 . . . . . 1 1538 10 1/0 0,233,255 +rs200658028 2 132010566 A G - POTEE 33895 POTE ankyrin domain family, member E NM_001083538.1 1 3440 3228 NP_001077007.1 Q6S8J3 substitution missense exon GRCh37 132010566 132010566 Chr2(GRCh37):g.132010566A>G 1672 1672 NM_001083538.1:c.1672A>G p.Asn558Asp p.Asn558Asp 13 608914 76 3' 89.3117 10.065 0.972687 8.80547 89.3117 10.065 0.972687 9.34092 0 rs200658028 yes no Frequency 1 0.000000 0 0.006819 0.000629 0.001143 0.012352 0.000068 0.004668 0.008019 0.018834 0.007533 0.018834 1253 12 23 69 1 77 676 363 32 183754 19082 20118 5586 14652 16494 84300 19274 4248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1253 12 23 69 1 77 676 363 32 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8407 4324 12731 37 2 39 0.00438181 0.000462321 0.00305403 0.00438181 0.000462321 0.00305403 41 transition A G A>G 0.000 -0.440 N Asn AAT 0.464 D Asp GAT 0.461 558 12 5 Chicken 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 243.59 22.66 Tolerated 0.53 II.85 good 9.576E-1 0.169 222 PASS . . . . . . . . . . . ENSG00000188219:ENST00000356920:exon13:c.A1672G:p.N558D . POTEE:NM_001083538:exon13:c.A1672G:p.N558D . . 0.21978022 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.282 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N558D|POTEE|mRNA|CODING|NM_001083538|NM_001083538.ex.13) 0.0005 0.0031 0.0044 0.0005 0.0031 0.0044 . -1.2831 -1.399 -1.283 c . . . . . 5.248e-03 . . . 0.0007 0.0066 0.0007 0 0.0318 0.0096 0.0171 0.0076 0.0006 0.0091 0.0008 0 0.0279 0.0133 0.0197 0.0077 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.809 . . exonic exonic exonic . . 0.102 @ . . . 0.43 0.67 182 ENSG00000188219 POTEE POTEE . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.591 . . 0.474 . . . 0.300 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.088 . . 0 0 0 0 0 0 . 0.135 . . 0.063 . . . . . . 0 0.912 . . . . . . . 0.007 . HET 0 rs200658028 . . . . . . . . . . . . . 5.47E-4 ENST00000356920 0.418 -0.836 . 0.010000 Q6S8J3 . . . 0.003054 . 0.004 . . . 0.0005 0.0066 0.0012 0.0123 7.673e-05 0.0184 0.0075 0.0063 0.0047 0.0008 0.0081 0 0.0134 0 0.0206 0.0105 0.0122 . . 0.246 . -0.457 -0.457000 . . 0.010000 . . 1.0E-222 0.001 0.137 . 0.043 0.128 . 0.189 . 0.051 -0.457 0.167 0.0044 . . rs200658028 rs200658028 1 1538 10 1/0 0,241,255 +rs775518269 2 132021200 C T - POTEE 33895 POTE ankyrin domain family, member E NM_001083538.1 1 3440 3228 NP_001077007.1 Q6S8J3 substitution synonymous exon GRCh37 132021200 132021200 Chr2(GRCh37):g.132021200C>T 2172 2172 NM_001083538.1:c.2172C>T p.Asp724= p.Asp724Asp 15 608914 273 3' 80.198 5.09505 0.952462 5.09664 80.198 5.09505 0.952462 5.09664 0 Actin-related protein rs775518269 yes no Frequency 1 0.000000 0 0.000189 0.000205 0.000140 0.000000 0.000178 0.000223 0.000222 0.000000 0.000823 0.000223 25 3 3 0 2 3 11 0 3 132414 14642 21470 4370 11236 13440 49510 14102 3644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 3 3 0 2 3 11 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 -0.037 D Asp GAC 0.539 D Asp GAT 0.461 724 182 PASS . . . . . . . . . . . ENSG00000188219:ENST00000356920:exon15:c.C2172T:p.D724D . POTEE:NM_001083538:exon15:c.C2172T:p.D724D . . 0.11724138 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 145.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D724|POTEE|mRNA|CODING|NM_001083538|NM_001083538.ex.15) . . . . . . . -0.4697 . . . . . . . . 6.402e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.61 182 ENSG00000188219 POTEE POTEE . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs775518269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0 0.0002 0 0.0002 0.0007 0.0002 0.0004 0.0002 0 0 0 0 0.0002 0.0011 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs62165872 rs62165872 rs62165872 rs62165872 1 1538 10 1/0 0,212,255 +rs763571201 2 132021542 C T - POTEE 33895 POTE ankyrin domain family, member E NM_001083538.1 1 3440 3228 NP_001077007.1 Q6S8J3 substitution synonymous exon GRCh37 132021542 132021542 Chr2(GRCh37):g.132021542C>T 2514 2514 NM_001083538.1:c.2514C>T p.Ala838= p.Ala838Ala 15 608914 615 3' 80.198 5.09505 0.952462 5.09664 80.198 5.09505 0.952462 5.09664 0 Actin-related protein rs763571201 yes no Frequency 1 0.000000 0 0.000402 0.000296 0.000151 0.000100 0.000000 0.000033 0.000734 0.000117 0.000326 0.000734 108 7 5 1 0 1 89 3 2 268788 23656 33048 9952 18830 30334 121250 25592 6126 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 7 5 1 0 1 89 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.205 A Ala GCC 0.403 A Ala GCT 0.263 838 208 PASS . . . . . . . . . . . ENSG00000188219:ENST00000356920:exon15:c.C2514T:p.A838A . POTEE:NM_001083538:exon15:c.C2514T:p.A838A . . 0.17813765 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 247.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A838|POTEE|mRNA|CODING|NM_001083538|NM_001083538.ex.15) . . . . . . . -0.0825 . . . . . . . . 3.157e-05 . . . 0 3.351e-05 0 0 0 2.421e-05 0 0.0001 0 1.902e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000188219 POTEE POTEE . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs763571201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.602e-05 9.157e-05 9.302e-05 0 0 0 0.0002 0 3.297e-05 0.0007 0.0030 0.0025 0.0037 0 0.0009 0.0055 0.0022 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,195,255 +rs537639562 2 132200383 C T - NOC2LP2 52286 NOC2 like nucleolar associated transcriptional repressor pseudogene 2 NR_002826.2 -1 2734 0 substitution exon GRCh37 132200383 132200383 Chr2(GRCh37):g.132200383C>T 2085 2085 NR_002826.2:n.2085G>A 1 rs537639562 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001118 0.000042 0.000117 0.000495 0.000000 0.000033 0.001995 0.001573 0.001094 0.001995 305 1 4 5 0 1 247 40 7 272694 23732 34108 10094 18624 30496 123806 25434 6400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 305 1 4 5 0 1 247 40 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.606 -1.570 255 PASS . . . . . . 0.0004 . . 0.002 . . LOC401010:uc002tst.2:exon1:c.G1619A:p.R540H . . . 0.4903846 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A695|LOC401010|Non-coding_transcript|NON_CODING|NR_002826|NR_002826.ex.1) . . . . . . . -0.7657 . . . . . . . . 1.098e-03 . . . 0 0.0009 0 0 0.0015 0.0018 0 0 0 0.0009 0 0 0.0024 0.0016 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0004 . . . . . . ENSG00000217950 LOC401010 LOC401010 . . . . . . 49 0.000754125 64976 47 0.000783516 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs537639562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0010 0.0001 0.0005 0 0.0017 0.0017 0.0009 3.279e-05 0.0001 0.0023 0 0 0 0.0006 0.0044 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 2 132248791 C A - MIR4784 41580 MicroRNA 4784 NR_039945.1 -1 77 0 substitution exon GRCh37 132248791 132248791 Chr2(GRCh37):g.132248791C>A 19 19 NR_039945.1:n.19G>T 1 0.000020 0.000000 0.000096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000096 1 0 1 0 0 0 0 0 0 50194 4984 10464 1236 7370 6134 17774 746 1486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Exomes transversion G T G>T 0.008 0.528 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . 0.8363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.26 0.28 182 ENSG00000265575 MIR4784 MIR4784 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.992e-05 9.557e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs78382545 rs78382545 1 1538 10 1/0 0,247,255 +. 2 132248791 C A - MZT2A 33187 Mitotic spindle organizing protein 2A NM_001085365.1 -1 693 477 NP_001078834.1 Q6P582 substitution intron GRCh37 132248791 132248791 Chr2(GRCh37):g.132248791C>A 319+658 319+658 NM_001085365.1:c.319+658G>T p.? p.? 2 2 613449 658 5' 81.7339 5.24236 0.840252 9.26947 81.7339 5.24236 0.840252 9.26947 0 0.000020 0.000000 0.000096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000096 1 0 1 0 0 0 0 0 0 50194 4984 10464 1236 7370 6134 17774 746 1486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Exomes transversion G T G>T 0.008 0.528 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . 0.8363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.26 0.28 182 ENSG00000265575 MIR4784 MIR4784 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.992e-05 9.557e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs78382545 rs78382545 1 1538 10 1/0 0,247,255 +. (chr2:132273796 G/GCA) 2 132273796 G GCA Not on a known gene +rs796327028 (chr2:132273798 C/T) 2 132273798 C T Not on a known gene +rs201215285 2 132914522 A G - ANKRD30BL 35167 Ankyrin repeat domain 30B-like NR_027019.1 -1 1727 0 substitution intron GRCh37 132914522 132914522 Chr2(GRCh37):g.132914522A>G 754+24 754+24 NR_027019.1:n.754+24T>C p.? p.? 3 3 24 5' 71.6826 7.06725 0.79123 0.703874 71.6826 7.06725 0.79123 0.854265 0 rs201215285 yes no Frequency 1 A 0.000000 0 0.005532 0.000749 0.006681 0.004602 0.000000 0.001953 0.007703 0.009265 0.003515 0.009265 519 10 43 14 0 17 339 88 8 93812 13350 6436 3042 6500 8704 44006 9498 2276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 519 10 43 14 0 17 339 88 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.063 -0.521 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.3224 . . . . . . . . 3.747e-03 . . . 0.0087 0.0276 0.0251 0 0.0976 0.0358 0.0571 0.0188 0.0063 0.0192 0.0320 0 0.0077 0.0371 0 0.0193 . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.33 0.21 182 ENSG00000163046 ANKRD30BL ANKRD30BL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201215285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0078 0.0077 0.0051 0 0.0126 0.0111 0.0060 0.0020 0 0.0007 0 0 0 0.0030 0.0008 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs201215285 rs201215285 1 1538 10 1/0 0,255,255 +rs201793747 2 133014614 C T - ANKRD30BL 35167 Ankyrin repeat domain 30B-like NR_027019.1 -1 1727 0 substitution upstream GRCh37 133014614 133014614 Chr2(GRCh37):g.133014614C>T -95089 -95089 NR_027019.1:n.-95089G>A p.? p.? 1 -95554 5' 68.1351 6.42714 0.907556 XI.86 68.1351 6.42714 0.907556 XI.86 0 rs201793747 yes no Frequency 1 0.000000 0 0.000777 0.000665 0.000059 0.000101 0.000000 0.000000 0.001334 0.000737 0.001633 0.001334 200 15 2 1 0 0 160 12 10 257472 22552 33884 9858 18554 30238 119982 16282 6122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 200 15 2 1 0 0 160 12 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.091 0.690 220 PASS . . . . . . . . . . . . . . . . 0.21138212 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 246.0 . . . . . . . . . . -0.1092 . . . . . . . . 8.090e-04 . . . 0.0002 0.0008 0.0003 0 0.0006 0.0008 0 0.0018 0.0003 0.0005 0.0003 0 0.0005 0.0003 0 0.0018 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.36 182 ENSG00000221288 MIR663B MIR663B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201793747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 3.023e-05 0.0001 0 7.607e-05 0.0009 0 0 0.0018 0.0035 0.0012 0 0 0.0035 0.0047 0.0112 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs201793747 rs201793747 1 1538 10 1/0 0,197,255 +rs201793747 2 133014614 C T - MIR663B 35270 MicroRNA 663b NR_031608.1 -1 115 0 substitution exon GRCh37 133014614 133014614 Chr2(GRCh37):g.133014614C>T 40 40 NR_031608.1:n.40G>A 1 rs201793747 yes no Frequency 1 0.000000 0 0.000777 0.000665 0.000059 0.000101 0.000000 0.000000 0.001334 0.000737 0.001633 0.001334 200 15 2 1 0 0 160 12 10 257472 22552 33884 9858 18554 30238 119982 16282 6122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 200 15 2 1 0 0 160 12 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.091 0.690 220 PASS . . . . . . . . . . . . . . . . 0.21138212 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 246.0 . . . . . . . . . . -0.1092 . . . . . . . . 8.090e-04 . . . 0.0002 0.0008 0.0003 0 0.0006 0.0008 0 0.0018 0.0003 0.0005 0.0003 0 0.0005 0.0003 0 0.0018 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.36 182 ENSG00000221288 MIR663B MIR663B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201793747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 3.023e-05 0.0001 0 7.607e-05 0.0009 0 0 0.0018 0.0035 0.0012 0 0 0.0035 0.0047 0.0112 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs201793747 rs201793747 1 1538 10 1/0 0,197,255 +rs201429060 2 133014633 T C - ANKRD30BL 35167 Ankyrin repeat domain 30B-like NR_027019.1 -1 1727 0 substitution upstream GRCh37 133014633 133014633 Chr2(GRCh37):g.133014633T>C -95108 -95108 NR_027019.1:n.-95108A>G p.? p.? 1 -95573 5' 68.1351 6.42714 0.907556 XI.86 68.1351 6.42714 0.907556 XI.86 0 rs201429060 yes no Frequency 1 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000166 0.000000 0.000166 6 0 0 0 0 0 4 2 0 220430 13460 32224 9412 16394 29974 101854 12062 5050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 4 2 0 0 0 0 0 0 0 0 0 0 RF 70 Exomes transition A G A>G 0.039 -0.117 177 PASS . . . . . . . . . . . . . . . . 0.107569724 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 251.0 . . . . . . . . . . 0.0394 . . . . . . . . 1.004e-03 . . . 0.0007 0.0008 0.0012 0.0010 0.0012 0.0007 0 0.0004 0.0008 0.0009 0.0012 0.0015 0.0011 0.0009 0.0016 0.0004 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.66 0.35 182 ENSG00000221288 MIR663B MIR663B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201429060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.722e-05 0 0 0 0.0002 3.927e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs201429060 rs201429060 1 1538 10 1/0 0,187,255 +rs201429060 2 133014633 T C - MIR663B 35270 MicroRNA 663b NR_031608.1 -1 115 0 substitution exon GRCh37 133014633 133014633 Chr2(GRCh37):g.133014633T>C 21 21 NR_031608.1:n.21A>G 1 rs201429060 yes no Frequency 1 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000166 0.000000 0.000166 6 0 0 0 0 0 4 2 0 220430 13460 32224 9412 16394 29974 101854 12062 5050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 4 2 0 0 0 0 0 0 0 0 0 0 RF 70 Exomes transition A G A>G 0.039 -0.117 177 PASS . . . . . . . . . . . . . . . . 0.107569724 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 251.0 . . . . . . . . . . 0.0394 . . . . . . . . 1.004e-03 . . . 0.0007 0.0008 0.0012 0.0010 0.0012 0.0007 0 0.0004 0.0008 0.0009 0.0012 0.0015 0.0011 0.0009 0.0016 0.0004 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.66 0.35 182 ENSG00000221288 MIR663B MIR663B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201429060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.722e-05 0 0 0 0.0002 3.927e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs201429060 rs201429060 1 1538 10 1/0 0,187,255 +rs7355688 2 133074851 A T - ZNF806 33228 Zinc finger protein 806 NM_001304449.1 1 1867 1770 NP_001291378.1 P0C7X5 substitution synonymous exon GRCh37 133074851 133074851 Chr2(GRCh37):g.133074851A>T 312 312 NM_001304449.1:c.312A>T p.Val104= p.Val104Val 4 170 3' 75.7473 3.18978 0.002053 0 75.7473 3.18978 0.002053 0 0 Cryptic Acceptor Strongly Activated 133074865 1.76038 0.002363 72.6061 3.13606 0.015399 75.7217 rs7355688 yes no Frequency 1 0.000000 0 transversion A T A>T 0.000 -0.844 V Val GTA 0.114 V Val GTT 0.178 104 255 PASS . . . . . . . . . . . . . ZNF806:NM_001304449:exon4:c.A312T:p.V104V . . 0.5652174 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtA/gtT|V104|ZNF806|mRNA|CODING|NM_001304449|NM_001304449.ex.4) . . . . . . . -0.5153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . ncRNA_exonic ncRNA_intronic exonic . . . @ . . . 0.57 0.4 182 ENSG00000018607 AK094599 ZNF806 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7355688 0.489 0.486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.49 rs7355688 rs7355688 rs7355688 rs7355688 1 1538 10 1/0 0,255,255 +rs7355689 2 133074876 A G - ZNF806 33228 Zinc finger protein 806 NM_001304449.1 1 1867 1770 NP_001291378.1 P0C7X5 substitution missense exon GRCh37 133074876 133074876 Chr2(GRCh37):g.133074876A>G 337 337 NM_001304449.1:c.337A>G p.Met113Val p.Met113Val 4 195 3' 75.7473 3.18978 0.002053 0 75.7473 3.18978 0.002053 0 0 Cryptic Acceptor Weakly Activated 133074888 3.14673 0.709134 82.0912 III.76 0.747814 82.0912 rs7355689 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.279 M Met ATG 1.000 V Val GTG 0.468 113 1 1 1 0 0 5.VII 5.IX 105 84 21 255 PASS . . . . . . . . . . . . . ZNF806:NM_001304449:exon4:c.A337G:p.M113V . . 0.57894737 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M113V|ZNF806|mRNA|CODING|NM_001304449|NM_001304449.ex.4) . . . . . . . -0.3230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . ncRNA_exonic ncRNA_intronic exonic . . . @ . . . 0.54 0.36 182 ENSG00000018607 AK094599 ZNF806 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7355689 0.467 0.471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 rs7355689 rs7355689 rs7355689 rs7355689 1 1538 10 1/0 0,255,255 +rs199974637 2 139308397 T C - SPOPL 27934 Speckle-type POZ protein-like NM_001001664.2 1 5734 1179 NP_001001664.1 Q6IQ16 substitution intron GRCh37 139308397 139308397 Chr2(GRCh37):g.139308397T>C 201-76 201-76 NM_001001664.2:c.201-76T>C p.? p.? 4 3 -76 3' 92.9765 9.93437 0.99059 3.74718 92.9765 9.93437 0.99059 3.59215 0 rs199974637 no no 0 T 0.000000 0 transition T C T>C 0.071 -0.521 222 PASS . . . . . . . . . . . . . . . . 0.22580644 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||SPOPL|mRNA|CODING|NM_001001664|) . . . . . . . -0.2795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.17 182 ENSG00000144228 SPOPL SPOPL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199974637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs199974637 rs199974637 1 1538 10 1/0 0,255,255 +. 2 149246907 T TT - MBD5 20444 Methyl-CpG binding domain protein 5 NM_018328.4 1 6018 4485 NP_060798.2 Q9P267 duplication intron GRCh37 149246907 149246908 Chr2(GRCh37):g.149246907dup 3055-48 3055-48 NM_018328.4:c.3055-48dup p.? p.? 12 11 611472 -47 3' 86.5466 8.48833 0.971127 XI.83 86.5466 8.48833 0.971127 XI.18 0 149246909 -11.5642 rs111476224 yes no Frequency/1000G 2 0.000000 0 0.124401 0.164100 0.119600 0.173600 0.076500 0.053300 0.089069 0.144859 0.041725 0.051888 0.173725 0.108838 0.076519 0.090673 0.088702 0.173725 24420 3463 1432 525 3257 3335 9536 2302 570 274170 23906 34320 10118 18748 30642 124622 25388 6426 0.009345 0.020832 0.002214 0.003360 0.030723 0.011749 0.005874 0.009059 0.008715 1281 249 38 17 288 180 366 115 28 21858 2965 1356 491 2681 2975 8804 2072 514 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7686 3634 11320 568 632 1200 0.0688151 0.148148 0.0958466 0.0688151 0.148148 0.0958466 26 T 255 Pass . . . . . . . . . . . . . . . . 0.5 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . INTRON(MODIFIER||||MBD5|mRNA|CODING|NM_018328|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000204406 MBD5 MBD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.130 0.174 . . . . . . . . . . . . . . . . . . . . Name\x3desv2751831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.13 . . . . 1 1538 10 1.I 0,12,30 +. 2 152441905 G C - NEB 7720 Nebulin NM_001271208.1 -1 26307 25683 NP_001258137.1 substitution intron GRCh37 152441905 152441905 Chr2(GRCh37):g.152441905G>C 15663+116 15663+116 NM_001271208.1:c.15663+116C>G p.? p.? 100 100 161650 116 5' 80.3814 9.40305 0.934872 4.86089 80.3814 9.40305 0.934872 4.86089 0 transversion C G C>G 0.000 0.125 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.0283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.36 182 ENSG00000183091 NEB NEB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs4664487 rs4664487 rs4664487 rs4664487 1 1538 255 1.I 0,0,255 +rs140039820 2 152452458 G C - NEB 7720 Nebulin NM_001271208.1 -1 26307 25683 NP_001258137.1 substitution intron GRCh37 152452458 152452458 Chr2(GRCh37):g.152452458G>C 14205+116 14205+116 NM_001271208.1:c.14205+116C>G p.? p.? 92 92 161650 116 5' 80.3814 9.40305 0.934872 4.86089 80.3814 9.40305 0.934872 4.86089 0 rs140039820 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13508 Genomes transversion C G C>G 0.008 0.367 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.2509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.24 182 ENSG00000183091 NEB NEB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs140039820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.25 . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs4664487 rs4664487 rs4664487 rs140039820 1 1538 255 1.I 0,0,255 +rs112260335 2 152459090 T C - NEB 7720 Nebulin NM_001271208.1 -1 26307 25683 NP_001258137.1 substitution intron GRCh37 152459090 152459090 Chr2(GRCh37):g.152459090T>C 13368+11 13368+11 NM_001271208.1:c.13368+11A>G p.? p.? 87 87 161650 11 5' 81.7494 5.55419 0.939544 2.77594 81.7494 5.55419 0.939544 2.94779 0 rs112260335 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 4 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes RCV000215253.3 germline|germline|germline clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity 1 not specified transition A G A>G 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.6119403 . . germline 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Conflicting//\@interpretations//\@of//\@pathogenicity other RCV000215253.2 not_specified MedGen CN169374 2 . . . 67.0 . . . . . . . . . . -0.0238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.31 182 ENSG00000183091 NEB NEB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112260335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . 0 . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71415152 rs71415152 rs112260335 1 1538 10 1/0 0,255,255 +. 2 157406211 C A - GPD2 4456 Glycerol-3-phosphate dehydrogenase 2 (mitochondrial) NM_001083112.2 1 6029 2184 NP_001076581.2 P43304 substitution missense exon GRCh37 157406211 157406211 Chr2(GRCh37):g.157406211C>A 753 753 NM_001083112.2:c.753C>A p.Ser251Arg p.Ser251Arg 7 138430 -74 5' 84.0478 9.36876 0.973562 8.58247 84.0478 9.36876 0.973562 8.61307 0 FAD dependent oxidoreductase transversion C A C>A 0.992 0.609 S Ser AGC 0.243 R Arg AGA 0.205 251 12 6 Dog -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 148.39 0.00 Tolerated 0.82 III.33 good 9.281E-1 0.1078 255 PASS . . . . . . . . . . . . . . . . 0.5026738 . . @ 94 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.229 . @ . . . . . 1 0.291 . . 187.0 . . . . . . . . . . -0.2991 -0.145 -0.299 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.629 . . exonic exonic exonic . . 0.312 @ . . . . . . ENSG00000115159 GPD2 GPD2 . . . 0.183 0.179 . . . . . . . Uncertain_significance . 0 . 0.419 . . . . T 0.252 0.010 . . 37 . 0.487 . . 0.314 . . . 0.251 0.254 . . . . 1 1 0 0 0 0 0 1 0 0 0 0.360 . . 0 0 0 0 0 0 . 0.067 . . 0.104 . . . . . . 0 0.107 . . . . . 0.364 . 0.159 . HET 0.42 . . . . . . . . . . . . . IX.49 . . V.91 II.74 . 0.500000 P43304 . . . . . 0.434 . . II.74 . . . . . . . . . . . . . . . . . . . 0.609 . 0.846 0.846000 . . 0.500000 . . 1.0E-255 0.988 0.363 . 0.888 0.996 . 0.209 . 0.490 0.846 0.033 . . . . . 1 1538 10 1/0 0,234,253 +. 2 159523130 GAA G - PKP4 9026 Plakophilin 4 NM_003628.4 1 4675 3579 NP_003619.2 Q99569 deletion intron GRCh37 159523132 159523133 Chr2(GRCh37):g.159523132_159523133del 2728+57 2728+58 NM_003628.4:c.2728+57_2728+58del p.? p.? 16 16 604276 57 5' 85.6983 7.76066 0.973778 0 85.6983 7.76066 0.973778 0 0 rs370011978 yes no Frequency/1000G 2 0.000000 0 0.004792 0.000800 0.014300 0.000000 0.006000 0.004300 0.005491 0.000421 0.003190 0.037631 0.000212 0.013623 0.004887 0.001258 0.007301 0.037631 1204 9 65 265 3 270 527 30 35 219280 21388 20378 7042 14158 19820 107848 23852 4794 0.000109 0.000000 0.000000 0.001988 0.000000 0.000303 0.000019 0.000000 0.000417 12 0 0 7 0 3 1 0 1 1180 9 65 251 3 264 525 30 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AA 255 Pass . . . . . 0.0008 0.0048 0.0043 . 0.006 0.014 . . . . . 0.41025642 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . . . . . . . . . . . . . . 5.685e-03 . . . 0.0009 0.0065 0.0030 0 0.0016 0.0077 0.0103 0.0135 0.0007 0.0056 0.0030 0.0003 0.0017 0.0062 0.0076 0.0135 . . . . . . ncRNA_intronic ncRNA_intronic UTR3 . . . . . . . . . . ENSG00000204380 AK126351 PKP4 . . NM_001304971:c.*42_*43delAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370011978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0058 0.0032 0.0371 0.0002 0.0012 0.0048 0.0081 0.0136 0.0003 0.0036 0.0036 0.0497 0.0006 0.0017 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370011978 rs370011978 1 1538 10 1.I 0,12,39 +. 2 159523130 GAA G - PKP4-AS1 52580 PKP4 antisense RNA 1 NR_135242.1 -1 4067 0 deletion intron GRCh37 159523131 159523132 Chr2(GRCh37):g.159523131_159523132del 420-539 420-538 NR_135242.1:n.420-539_420-538del p.? p.? 3 2 -538 3' 93.0673 10.0526 0.982728 V.72 93.0673 10.0526 0.982728 V.72 0 rs370011978 yes no Frequency/1000G 2 0.000000 0 0.004792 0.000800 0.014300 0.000000 0.006000 0.004300 0.005491 0.000421 0.003190 0.037631 0.000212 0.013623 0.004887 0.001258 0.007301 0.037631 1204 9 65 265 3 270 527 30 35 219280 21388 20378 7042 14158 19820 107848 23852 4794 0.000109 0.000000 0.000000 0.001988 0.000000 0.000303 0.000019 0.000000 0.000417 12 0 0 7 0 3 1 0 1 1180 9 65 251 3 264 525 30 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TT 255 Pass . . . . . 0.0008 0.0048 0.0043 . 0.006 0.014 . . . . . 0.41025642 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . . . . . . . . . . . . . . 5.685e-03 . . . 0.0009 0.0065 0.0030 0 0.0016 0.0077 0.0103 0.0135 0.0007 0.0056 0.0030 0.0003 0.0017 0.0062 0.0076 0.0135 . . . . . . ncRNA_intronic ncRNA_intronic UTR3 . . . . . . . . . . ENSG00000204380 AK126351 PKP4 . . NM_001304971:c.*42_*43delAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370011978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0058 0.0032 0.0371 0.0002 0.0012 0.0048 0.0081 0.0136 0.0003 0.0036 0.0036 0.0497 0.0006 0.0017 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370011978 rs370011978 1 1538 10 1.I 0,12,39 +rs61748244 2 165358792 G A - GRB14 4565 Growth factor receptor-bound protein 14 NM_004490.2 -1 2387 1623 NP_004481.2 Q14449 substitution synonymous exon GRCh37 165358792 165358792 Chr2(GRCh37):g.165358792G>A 1077 1077 NM_004490.2:c.1077C>T p.Gly359= p.Gly359Gly 9 601524 -28 5' 86.1635 9.33191 0.997089 0 86.1635 9.33191 0.997089 0 0 rs61748244 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.002000 0.000000 0.003000 0.001400 0.004952 0.001499 0.002183 0.001283 0.000000 0.003152 0.008062 0.003881 0.004817 0.008062 1369 36 75 13 0 97 1017 100 31 276454 24010 34360 10136 18830 30774 126142 25766 6436 0.000058 0.000000 0.000000 0.000000 0.000000 0.000065 0.000111 0.000000 0.000000 8 0 0 0 0 1 7 0 0 1353 36 75 13 0 95 1003 100 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4400 12926 74 6 80 0.00860465 0.00136178 0.00615101 0.00860465 0.00136178 0.00615101 92 transition C T C>T 0.992 0.044 G Gly GGC 0.342 G Gly GGT 0.162 359 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0012 0.0014 . 0.003 0.002 . . . . . 0.41463414 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0014 0.0062 0.0086 0.0014 0.0062 0.0086 . I.77 . . . . . . . . 4.941e-03 . . . 0.0016 0.0046 0.0014 0 0.0051 0.0075 0.0028 0.0027 0.0014 0.0049 0.0014 0 0.0049 0.0076 0.0014 0.0027 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.34 0.27 182 ENSG00000115290 GRB14 GRB14 . . . . . . 366 0.00563285 64976 360 0.0060014 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61748244 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv875365 0.006151 . . . . . 0.0012 0.0049 0.0022 0.0011 0 0.0035 0.0080 0.0049 0.0032 0.0021 0.0056 0.0024 0.0066 0 0.0060 0.0083 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs61748244 rs61748244 rs61748244 rs61748244 1 1538 10 1/0 0,255,255 +rs146978168 2 166618535 C G - GALNT3 4125 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) NM_004482.3 -1 3267 1902 NP_004473.2 Q14435 substitution missense exon GRCh37 166618535 166618535 Chr2(GRCh37):g.166618535C>G 718 718 NM_004482.3:c.718G>C p.Val240Leu p.Val240Leu 4 601756 30 3' 96.0891 X.49 0.994566 6.32634 96.0891 X.49 0.994566 6.13706 0 Glycosyl transferase, family 2 rs146978168 yes no Frequency 1 C uncertain_significance 0.000000 0 0.000109 0.000000 0.000000 0.000000 0.000000 0.000000 0.000230 0.000039 0.000000 0.000230 30 0 0 0 0 0 29 1 0 276038 23972 34332 10114 18804 30750 125874 25756 6436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 29 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 60 RCV000304335.1 germline clinical testing VUS 1 Tumoral calcinosis, familial, hyperphosphatemic transversion G C G>C 0.992 0.367 V Val GTA 0.114 L Leu CTA 0.070 240 11 5 Frog 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 50.29 0.00 Tolerated 0.66 III.39 good 5.799E-1 0.03954 255 PASS . . . . . . . . . . . . . GALNT3:NM_004482:exon4:c.G718C:p.V240L . . 0.46666667 . . germline 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.229 . Uncertain//\@significance Uncertain_significance RCV000304335.1 . MedGen:OMIM:OMIM:Orphanet C1876187:211900:610233:ORPHA306661 1 0.244 . . 15.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Cta|V240L|GALNT3|mRNA|CODING|NM_004482|NM_004482.ex.4) . 0.0002 0.0003 . 0.0002 0.0003 . -0.5399 -0.416 -0.540 c . . . . . 1.105e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 7.992e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.585 . . exonic exonic exonic . . 0.221 @ . . . 0.41 0.24 182 ENSG00000115339 GALNT3 GALNT3 . . . 0.992 0.325 . 15 0.000230854 64976 15 0.000250058 59986 Uncertain_significance . 0 . 0.449 . . . . T 0.362 0.015 . . 37 . 0.438 . . 0.261 . . . 0.300 0.349 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.067 . . 0.139 . . . . . . 0 0.216 . . . . . 0.262 . 0.130 . HET 0.1 rs146978168 . . . . . . . . . . . . VII.74 0.0 . V.21 I.52 . 0.170000 Q14435 . . . 0.000231 . 0.322 . . . 0 0.0001 0 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0003 0.0002 0 . . 0.349 . 0.369 0.369000 . . 0.170000 . . 1.0E-255 0.731 0.287 . 0.366 0.997 . 0.188 . 0.211 0.369 0.021 0.0003 . . rs146978168 rs146978168 1 1538 10 1/0 0,255,255 +. 2 166929981 G T - SCN1A 10585 Sodium voltage-gated channel alpha subunit 1 AB093548.1 -1 6030 6030 BAC21101.1 P35498 substitution missense exon GRCh37 166929981 166929981 Chr2(GRCh37):g.166929981G>T 151 151 AB093548.1:c.151C>A p.Pro51Thr p.Pro51Thr 1 182389 -114 5' 83.1949 8.39958 0.809098 3.88228 83.1949 8.39958 0.809098 3.88228 0 transversion C A C>A 1.000 6.016 P Pro CCA 0.274 T Thr ACA 0.280 51 9 9 Zebrafish -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C35 0.00 37.56 Deleterious 0 IV.32 bad 4.552E-4 0.0002166 255 PASS . . . . . . . . . . . . . . . . 0.38235295 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.675 . @ . . . . . 1 0.918 . . 34.0 . . . . . . . . . . 1.0592 1.003 1.059 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.976 . . exonic exonic exonic . . 0.857 @ . . . . . . ENSG00000144285 SCN1A SCN1A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.969 0.638 . . 37 . 0.990 . . 0.994 . . . 0.971 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.945 . . 0 0 0 0 0 0 . 0.609 . . 0.627 . . . . . . 0 0.912 . . . . . 0.928 . 0.771 . HET 0 . . . . . . . . . . . . . 19.0118 . . V.62 V.62 . 0.000000 P35498-2 . . . . . 0.758 . . V.62 . . . . . . . . . . . . . . . . . . . 0.246 . 2.809 2.809000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.992 . 0.713 2.809 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs373750234 2 172803330 A G - HAT1 4821 Histone acetyltransferase 1 NM_003642.3 1 1670 1260 NP_003633.1 O14929 substitution intron GRCh37 172803330 172803330 Chr2(GRCh37):g.172803330A>G 188+27 188+27 NM_003642.3:c.188+27A>G p.? p.? 3 3 603053 27 5' 74.7752 8.81899 0.880497 0 74.7752 8.81899 0.880497 0 0 Cryptic Acceptor Strongly Activated 172803337 2.84792 0.000301 67.4166 3.71513 0.00043 67.1639 rs373750234 yes no Frequency 1 A 0.000000 0 0.000104 0.000000 0.000196 0.000000 0.000000 0.000000 0.000173 0.000000 0.000000 0.000196 19 0 3 0 0 0 16 0 0 183032 12320 15306 6816 11830 20248 92572 20404 3536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 3 0 0 0 16 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes 8572 4390 12962 2 0 2 0.000233263 0 0.000154273 0.000233263 0 0.000154273 39 transition A G A>G 0.008 0.690 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.6412 . . . . . . . . 7.903e-05 . . . 0 0.0001 8.718e-05 0 0 0.0002 0 0 0 7.66e-05 8.986e-05 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.67 0.63 182 ENSG00000128708 HAT1 HAT1 . . . . . . 108 0.00166215 64976 108 0.00180042 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373750234 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv4362n71 0.000154 . . . . III.63 0 0.0001 0.0002 0 0 0 0.0002 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs373750234 rs373750234 1 1538 10 1/0 0,0,0 +. 2 178494173 G GGGC - PDE11A 8773 Phosphodiesterase 11A NM_016953.3 -1 9278 2802 NP_058649.3 Q9HCR9 insertion in-frame exon GRCh37 178494173 178494174 Chr2(GRCh37):g.178494173_178494174insGGC 2763 2764 NM_016953.3:c.2763_2764insGCC p.Ser921_Pro922insAla p.Ser921_Pro922insAla 20 604961 117 3' 92.9765 XI.37 0.994905 XI.59 92.9765 XI.37 0.994905 XI.59 0 GCC 255 Pass . . . . . . . . . . . . . . . . 0.9047619 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000128655 PDE11A PDE11A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv819130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,4 +rs77477862 2 178879055 C T - PDE11A 8773 Phosphodiesterase 11A NM_016953.3 -1 9278 2802 NP_058649.3 Q9HCR9 substitution missense exon GRCh37 178879055 178879055 Chr2(GRCh37):g.178879055C>T 1045 1045 NM_016953.3:c.1045G>A p.Ala349Thr p.Ala349Thr 2 604961 -27 5' 82.2284 6.91262 0.771647 0 82.2284 6.91262 0.771647 0 0 Cryptic Acceptor Strongly Activated 178879039 0.0447392 0.001134 76.3013 0.36982 0.001503 76.3013 GAF rs77477862 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001719 0.000499 0.000436 0.002169 0.000000 0.001592 0.002871 0.000272 0.001240 0.002871 476 12 15 22 0 49 363 7 8 276854 24028 34418 10142 18832 30772 126436 25776 6450 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 472 12 15 22 0 49 359 7 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4404 12970 34 2 36 0.00395349 0.000453926 0.00276795 0.00395349 0.000453926 0.00276795 133 CM094019 Altered enzyme activity 19549888 FP transition G A G>A 1.000 3.192 A Ala GCT 0.263 T Thr ACT 0.243 349 11 8 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 244.53 0.00 Tolerated 0.3 III.51 bad 4.674E-3 0.005023 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 . . . . . 0.4716981 . . @ 25 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.405 . @ . . . . . 1 0.287 . . 53.0 . . . 0.0005 0.0028 0.004 0.0005 0.0028 0.004 . -0.2375 -0.003 -0.237 c . . . . . 1.657e-03 . . . 0.0005 0.0018 0.0004 0 0.0003 0.0031 0.0014 0.0012 0.0006 0.0016 0.0004 0 0.0002 0.0025 0.0014 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.679 . . exonic exonic exonic . . 0.566 0.0006 . . . 0.46 0.38 182 ENSG00000128655 PDE11A PDE11A . . . 0.139 0.172 . 140 0.00215464 64976 137 0.00228387 59986 Uncertain_significance . 0 . 0.280 . . . . T 0.288 0.011 . . 37 . 0.457 . . 0.352 . . . 0.084 0.444 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.150 . . 0 0 0 0 0 0 . 0.090 . . 0.127 . . . . . . 0 0.087 . . . . . 0.589 . 0.078 . HET 0.3 rs77477862 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 13.1775 5.35E-4 . 5.V IV.61 . 0.500000 . . . Name\x3dnsv875451 0.002768 . 0.616 . . IV.61 0.0004 0.0017 0.0004 0.0022 0 0.0003 0.0028 0.0013 0.0016 0.0007 0.0018 0 0 0 0.0003 0.0031 0.0010 . . 0.133 . 2.750 2.750000 . . 0.500000 . . 1.0E-255 1.000 0.715 . 0.653 0.997 . 0.516 . 0.403 2.750 0.871 0.004 . . rs77477862 rs77477862 1 1538 10 1/0 0,255,255 +rs146181116 2 179419792 G A - TTN 12403 Titin NM_001267550.2 -1 109224 107976 NP_001254479.2 substitution missense exon GRCh37 179419792 179419792 Chr2(GRCh37):g.179419792G>A 88394 88394 NM_001267550.2:c.88394C>T p.Ser29465Phe p.Ser29465Phe 331 188840 88 3' 99.4088 13.1515 0.987796 14.0982 99.4088 13.1515 0.987796 14.0982 0 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs146181116 yes no Frequency/1000G 2 G uncertain_significance,not_provided,benign,likely_benign 0.000000 0 0.001797 0.000000 0.001000 0.000000 0.007000 0.001400 0.003198 0.000625 0.001250 0.002173 0.000000 0.000195 0.004831 0.006321 0.004035 0.006321 883 15 43 22 0 6 608 163 26 276136 24004 34388 10122 18750 30778 125864 25786 6444 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 879 15 43 22 0 4 606 163 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8205 3726 11931 37 4 41 0.0044892 0.00107239 0.00342466 0.0044892 0.00107239 0.00342466 69 RCV000367586.1|RCV000319678.1|RCV000184933.1|RCV000354841.1|RCV000471049.1|RCV000040746.7|RCV000242549.1|RCV000297597.1|RCV000262196.1|RCV000266709.1 germline|germline|germline|germline|germline|unknown|germline|germline|germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|research|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing VUS|VUS|Not provided|VUS|Benign|Conflicting interpretations of pathogenicity|Likely benign|VUS|VUS|VUS 1|1|0|1|1|1|1|1|1|1 Distal myopathy Markesbery-Griggs type|Myopathy, early-onset, with fatal cardiomyopathy|not provided|Limb-Girdle Muscular Dystrophy, Recessive||not specified|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hereditary myopathy with early respiratory failure|Dilated Cardiomyopathy, Dominant transition C T C>T 1.000 3.434 S Ser TCT 0.185 F Phe TTT 0.454 29465 -2 -2 -4 I.42 0 9.II 5.II 32 132 155 255 PASS . 0.0032 . . 0.01 . 0.0018 0.0014 . 0.007 0.001 . . . . . 0.6 . . germline 27 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.433 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@not//\@provided//\%//\@Likely//\@benign//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance other|not_provided|Likely_benign|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000040746.6|RCV000184933.1|RCV000242549.1|RCV000262196.1|RCV000266709.1|RCV000297597.1|RCV000319678.1|RCV000354841.1|RCV000367586.1 . MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN221809|CN230736|C1863599:603689:ORPHA178464|CN239310|HP:0001639:C0007194:ORPHA217569|C2673677:611705:ORPHA289377|CN239352|C1838244:600334:ORPHA609 1 0.405 . . 45.0 . . . 0.0011 0.0034 0.0045 0.0011 0.0034 0.0045 . 0.6247 0.647 0.625 c . . . . . 2.834e-03 . . . 0.0004 0.0024 0.0014 0 0.0066 0.0040 0.0029 0.0002 0.0004 0.0025 0.0013 0 0.0064 0.0037 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.689 . . exonic exonic exonic . . 0.872 0.0018 . . . 0.64 0.48 182 ENSG00000155657 TTN TTN . . . 1.000 0.448 . 219 0.00337048 64976 210 0.00350082 59986 Likely_benign . 0 . . . . . . D 0.606 0.042 . . 37 . 0.675 . . 0.733 . . . 0.477 0.465 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.732 . . 0 0 0 0 1 0 . 0.604 . . 0.538 . . . . . . 3 0.065 . . . . . 0.979 . 0.460 . HET . rs146181116 . . . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000040746.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000040746.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . 0.003205128205128205 0.0 0.0 0.0 0.009234828496042216 20.1041 9.87E-4 . V.66 V.66 . 0.000000 . . . . 0.003425 . 0.549 . . V.66 0.0004 0.0030 0.0013 0.0022 0 0.0064 0.0044 0.0037 0.0002 0.0010 0.0049 0.0012 0 0 0.0057 0.0077 0.0061 . . 0.210 . 2.826 2.826000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.419 . 0.713 2.826 0.917 0.01 . . rs146181116 rs146181116 1 1538 10 1/0 0,255,255 +rs146181116 2 179419792 G A - TTN-AS1 44124 TTN antisense RNA 1 NR_038272.1 1 4592 0 substitution intron GRCh37 179419792 179419792 Chr2(GRCh37):g.179419792G>A 2043+12704 2043+12704 NR_038272.1:n.2043+12704G>A p.? p.? 7 7 12704 5' 82.5954 11.1124 0.991249 7.49404 82.5954 11.1124 0.991249 7.49404 0 rs146181116 yes no Frequency/1000G 2 G uncertain_significance,not_provided,benign,likely_benign 0.000000 0 0.001797 0.000000 0.001000 0.000000 0.007000 0.001400 0.003198 0.000625 0.001250 0.002173 0.000000 0.000195 0.004831 0.006321 0.004035 0.006321 883 15 43 22 0 6 608 163 26 276136 24004 34388 10122 18750 30778 125864 25786 6444 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 879 15 43 22 0 4 606 163 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8205 3726 11931 37 4 41 0.0044892 0.00107239 0.00342466 0.0044892 0.00107239 0.00342466 69 RCV000367586.1|RCV000471049.1|RCV000184933.1|RCV000354841.1|RCV000319678.1|RCV000040746.7|RCV000242549.1|RCV000297597.1|RCV000262196.1|RCV000266709.1 germline|germline|germline|germline|germline|unknown|germline|germline|germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|research|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing VUS|Benign|Not provided|VUS|VUS|Conflicting interpretations of pathogenicity|Likely benign|VUS|VUS|VUS 1|1|0|1|1|1|1|1|1|1 Distal myopathy Markesbery-Griggs type||not provided|Limb-Girdle Muscular Dystrophy, Recessive|Myopathy, early-onset, with fatal cardiomyopathy|not specified|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hereditary myopathy with early respiratory failure|Dilated Cardiomyopathy, Dominant transition G A G>A 1.000 3.434 255 PASS . 0.0032 . . 0.01 . 0.0018 0.0014 . 0.007 0.001 . . . . . 0.6 . . germline 27 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.433 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@not//\@provided//\%//\@Likely//\@benign//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance other|not_provided|Likely_benign|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000040746.6|RCV000184933.1|RCV000242549.1|RCV000262196.1|RCV000266709.1|RCV000297597.1|RCV000319678.1|RCV000354841.1|RCV000367586.1 . MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN221809|CN230736|C1863599:603689:ORPHA178464|CN239310|HP:0001639:C0007194:ORPHA217569|C2673677:611705:ORPHA289377|CN239352|C1838244:600334:ORPHA609 1 0.405 . . 45.0 . . . 0.0011 0.0034 0.0045 0.0011 0.0034 0.0045 . 0.6247 0.647 0.625 c . . . . . 2.834e-03 . . . 0.0004 0.0024 0.0014 0 0.0066 0.0040 0.0029 0.0002 0.0004 0.0025 0.0013 0 0.0064 0.0037 0.0014 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.689 . . exonic exonic exonic . . 0.872 0.0018 . . . 0.64 0.48 182 ENSG00000155657 TTN TTN . . . 1.000 0.448 . 219 0.00337048 64976 210 0.00350082 59986 Likely_benign . 0 . . . . . . D 0.606 0.042 . . 37 . 0.675 . . 0.733 . . . 0.477 0.465 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.732 . . 0 0 0 0 1 0 . 0.604 . . 0.538 . . . . . . 3 0.065 . . . . . 0.979 . 0.460 . HET . rs146181116 . . . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000040746.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000040746.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . 0.003205128205128205 0.0 0.0 0.0 0.009234828496042216 20.1041 9.87E-4 . V.66 V.66 . 0.000000 . . . . 0.003425 . 0.549 . . V.66 0.0004 0.0030 0.0013 0.0022 0 0.0064 0.0044 0.0037 0.0002 0.0010 0.0049 0.0012 0 0 0.0057 0.0077 0.0061 . . 0.210 . 2.826 2.826000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.419 . 0.713 2.826 0.917 0.01 . . rs146181116 rs146181116 1 1538 10 1/0 0,255,255 +rs372997298 2 179571644 C T - TTN 12403 Titin NM_001267550.2 -1 109224 107976 NP_001254479.2 substitution synonymous exon GRCh37 179571644 179571644 Chr2(GRCh37):g.179571644C>T 29079 29079 NM_001267550.2:c.29079G>A p.Ala9693= p.Ala9693Ala 101 188840 38 3' 83.2198 6.74558 0.089459 2.87282 83.2198 6.74558 0.089459 2.60455 0 Immunoglobulin-like domain Peptidase C2, calpain, large subunit, domain III Ribonuclease H-like domain Armadillo-type fold rs372997298 yes no Frequency 1 C benign 0.000000 0 0.000863 0.000000 0.000029 0.001691 0.000000 0.000199 0.001450 0.000819 0.001570 0.001691 236 0 1 17 0 6 181 21 10 273580 23836 34086 10056 18632 30104 124848 25648 6370 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 234 0 1 17 0 6 179 21 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8221 3722 11943 3 0 3 0.000364786 0 0.00025113 0.000364786 0 0.00025113 50 RCV000466578.1|RCV000125736.4 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Conflicting interpretations of pathogenicity 1|1 |not specified transition G A G>A 0.000 -1.570 A Ala GCG 0.107 A Ala GCA 0.226 9693 255 PASS . . . . . . . . . . . . . . . . 0.4 . . germline 24 . . 1.2.2016 0 0 0 0 1 0 1 1 0 0 0 0 . . . . . . . . Conflicting//\@interpretations//\@of//\@pathogenicity other RCV000125736.4 not_specified MedGen CN169374 2 . . . 60.0 . . . . 0.0003 0.0004 . 0.0003 0.0004 . 0.0062 . . . . . . . . 6.805e-04 . . . 0 0.0006 0 0 0.0010 0.0011 0.0017 0.0002 0 0.0006 0 0 0.0007 0.0011 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.24 182 ENSG00000155657 TTN TTN . . . . . . 27 0.000415538 64976 27 0.000450105 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs372997298 . . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000125736.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000125736.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . 0.000251 . . . . . 0 0.0006 3.008e-05 0.0016 0 0.0009 0.0010 0.0007 0.0002 0 0.0026 0 0.0033 0 0.0006 0.0047 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs372997298 rs372997298 1 1538 10 1/0 0,255,255 +rs112386296 2 185801470 G T - ZNF804A 21711 Zinc finger protein 804A NM_194250.1 1 4685 3630 NP_919226.1 Q7Z570 substitution synonymous exon GRCh37 185801470 185801470 Chr2(GRCh37):g.185801470G>T 1347 1347 NM_194250.1:c.1347G>T p.Thr449= p.Thr449Thr 4 612282 961 3' 82.4255 X.09 0.991026 9.23939 82.4255 X.09 0.991026 9.23939 0 rs112386296 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.003433 0.000749 0.001107 0.004252 0.000000 0.001008 0.005829 0.002677 0.002175 0.005829 950 18 38 43 0 31 737 69 14 276718 24026 34334 10112 18840 30766 126430 25772 6438 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 946 18 38 43 0 31 733 69 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4400 12944 54 6 60 0.00628053 0.00136178 0.00461396 0.00628053 0.00136178 0.00461396 100 transversion G T G>T 0.945 -0.440 T Thr ACG 0.116 T Thr ACT 0.243 449 255 PASS . 0.0023 . . 0.01 . 0.0014 . . 0.007 . ENSG00000170396:ENST00000302277:exon4:c.G1347T:p.T449T ZNF804A:uc002uph.3:exon4:c.G1347T:p.T449T ZNF804A:NM_194250:exon4:c.G1347T:p.T449T . . 0.453125 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 64.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acT|T449|ZNF804A|mRNA|CODING|NM_194250|NM_194250.ex.4) 0.0014 0.0046 0.0063 0.0014 0.0046 0.0063 . 0.9197 . . . . . . . . 3.662e-03 . . . 0.0010 0.0031 0.0010 0 0.0026 0.0055 0.0042 0.0011 0.0008 0.0034 0.0010 0 0.0021 0.0056 0.0029 0.0011 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.36 0.32 182 ENSG00000170396 ZNF804A ZNF804A . . . . . . 220 0.00338587 64976 213 0.00355083 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112386296 . . . . . . . . . . . . . . . . . . . . . . . 0.004614 . . . . . 0.0007 0.0034 0.0011 0.0043 0 0.0028 0.0058 0.0024 0.0010 0.0008 0.0035 0.0024 0.0033 0 0.0020 0.0060 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs112386296 rs112386296 1 1538 10 1/0 0,255,255 +. 2 187559048 C CAGCATC - FAM171B 29412 Family with sequence similarity 171, member B NM_177454.3 1 3557 2481 NP_803237.3 insertion in-frame exon GRCh37 187559049 187559050 Chr2(GRCh37):g.187559049_187559050insGCATCA 149 150 NM_177454.3:c.149_150insGCATCA p.Gln50_Gln51insHisGln p.Gln50_Gln51insHisGln 1 -89 5' 89.9194 X.02 0.997123 10.626 89.9194 X.02 0.997123 10.626 0 GCATCA 255 Pass . . . . . . . . . . . ENSG00000144369:ENST00000304698:exon1:c.148_149insAGCATC:p.Q50delinsQHQ . FAM171B:NM_177454:exon1:c.148_149insAGCATC:p.Q50delinsQHQ . . 0.41666666 . . . 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 120 . . CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||caa/cAGCATCaa|Q50QHQ|FAM171B|mRNA|CODING|NM_177454|NM_177454.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000144369 FAM171B FAM171B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1279e1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,38 +rs200449080 2 189872198 G A - COL3A1 2201 Collagen type III alpha 1 chain NM_000090.3 1 5490 4401 NP_000081.1 P02461 substitution intron GRCh37 189872198 189872198 Chr2(GRCh37):g.189872198G>A 3256-28 3256-28 NM_000090.3:c.3256-28G>A p.? p.? 45 44 120180 -28 3' 80.751 5.21261 0.320369 5.60885 80.751 5.21261 0.320369 5.84387 0 rs200449080 yes no Frequency/1000G 2 G benign 0.000000 0 0.001797 0.000000 0.005100 0.000000 0.004000 0.000000 0.005785 0.001468 0.002311 0.000416 0.001721 0.001255 0.009581 0.006913 0.006016 0.009581 1451 32 75 4 29 35 1071 169 36 250822 21800 32458 9614 16846 27894 111778 24448 5984 0.000056 0.000000 0.000000 0.000000 0.000000 0.000072 0.000089 0.000082 0.000000 7 0 0 0 0 1 5 1 0 1437 32 75 4 29 33 1061 167 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8541 4395 12936 57 7 64 0.00662945 0.00159019 0.00492308 0.00662945 0.00159019 0.00492308 25 RCV000249688.1 germline clinical testing Benign 1 not specified transition G A G>A 0.047 0.125 255 PASS . 0.0014 . . 0.004 . 0.0018 . . 0.004 0.0051 . . . . . 0.5 . . germline 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000249688.1 not_specified MedGen CN169374 2 . . . 20.0 . . INTRON(MODIFIER||||COL3A1|mRNA|CODING|NM_000090|) 0.0016 0.0049 0.0066 0.0016 0.0049 0.0066 . 0.2040 . . . . . . . . 5.695e-03 . . . 0.0026 0.0080 0.0040 0.0027 0.0238 0.0123 0.0084 0.0022 0.0030 0.0114 0.0039 0.0051 0.0166 0.0189 0.0032 0.0024 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.48 0.16 182 ENSG00000168542 COL3A1 COL3A1 . . . . . . 462 0.00711032 64976 453 0.00755176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200449080 . . . . . . . . . . . . . . . . . . . . . . . 0.004923 . . . . . 0.0010 0.0054 0.0023 0.0004 0.0018 0.0068 0.0090 0.0054 0.0013 0.0022 0.0084 0.0012 0 0.0006 0.0078 0.0136 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0066 . . rs200449080 rs200449080 1 1538 10 1/0 0,255,255 +rs113926079 (chr2:190788517 T/A) 2 190788517 T A Not on a known gene +. (chr2:190788685 G/T) 2 190788685 G T Not on a known gene +. (chr2:190788686 A/T) 2 190788686 A T Not on a known gene +. (chr2:190788691 A/G) 2 190788691 A G Not on a known gene +. (chr2:190788706 G/A) 2 190788706 G A Not on a known gene +rs773497697 2 191839634 T C - STAT1 11362 Signal transducer and activator of transcription 1, 91kDa NM_007315.3 -1 4308 2253 NP_009330.1 P42224 substitution synonymous exon GRCh37 191839634 191839634 Chr2(GRCh37):g.191839634T>C 2160 2160 NM_007315.3:c.2160A>G p.Thr720= p.Thr720Thr 24 600555 25 3' 78.4877 IX.15 0.976849 7.02014 78.4877 IX.15 0.976849 7.16252 0 Signal transducer and activation of transcription 1, TAZ2 binding domain, C-terminal rs773497697 yes no Frequency 1 T 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000036 4 0 0 0 0 0 4 0 0 246164 15304 33578 9842 17240 30780 111636 22300 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 131 Exomes transition A G A>G 0.787 -0.763 T Thr ACA 0.280 T Thr ACG 0.116 720 255 PASS . . . . . . . . . . . . . STAT1:NM_007315:exon24:c.A2160G:p.T720T . . 0.5263158 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . 1.1187 . . . . . . . . 3.157e-05 . . . 0 2.223e-05 0 0 0 4.772e-05 0 0 0 3.795e-05 0 0 0 7.394e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000115415 STAT1 STAT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs773497697 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834493 . . . . . . 0 1.625e-05 0 0 0 0 3.583e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs370177805 2 201806061 C G - ORC2 8488 Origin recognition complex, subunit 2 NM_006190.4 -1 3135 1734 NP_006181.1 Q13416 substitution intron GRCh37 201806061 201806061 Chr2(GRCh37):g.201806061C>G 422-59 422-59 NM_006190.4:c.422-59G>C p.? p.? 7 6 601182 -59 3' 87.6094 X.27 0.943333 5.60339 87.6094 X.27 0.943333 5.27441 0 rs370177805 yes no Frequency/1000G 2 C 0.000000 0 0.000583 0.000000 0.000000 0.000000 0.000000 0.000000 0.000668 0.002304 0.000000 0.002304 18 0 0 0 0 0 10 8 0 30896 8728 836 300 1620 0 14966 3472 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 0 0 0 0 0 10 8 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes 3180 1384 4564 2 0 2 0.000628536 0 0.00043802 0.000628536 0 0.00043802 95 transversion G C G>C 0.024 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . 0.3520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.49 0.07 182 ENSG00000115942 ORC2 ORC2 . . . . . . 8 0.000123122 64976 7 0.000116694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370177805 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv3109 0.000438 . . . . . . . . . . . . . . 0 0.0006 0 0 0 0.0023 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs370177805 rs370177805 1 1538 10 1/0 0,255,255 +rs74503544 2 201862152 T C - FAM126B 28593 Family with sequence similarity 126 member B NM_001321623.1 -1 9503 1761 NP_001308552.1 substitution intron GRCh37 201862152 201862152 Chr2(GRCh37):g.201862152T>C 626+16 626+16 NM_001321623.1:c.626+16A>G p.? p.? 8 8 16 5' 90.3087 9.21919 0.993396 0 90.3087 9.21919 0.993396 0 0 rs74503544 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.000800 0.003100 0.000000 0.006000 0.014400 0.005500 0.001210 0.005280 0.018035 0.000053 0.005621 0.006518 0.002679 0.009828 0.018035 1511 29 179 181 1 169 820 69 63 274744 23976 33904 10036 18786 30064 125814 25754 6410 0.000051 0.000000 0.000059 0.000199 0.000000 0.000000 0.000064 0.000000 0.000312 7 0 1 1 0 0 4 0 1 1497 29 177 179 1 169 812 69 61 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4404 12932 70 2 72 0.00814143 0.000453926 0.00553676 0.00814143 0.000453926 0.00553676 53 transition A G A>G 0.000 -0.521 255 PASS . 0.0037 0.01 . 0.01 0.0008 0.004 0.014 . 0.006 0.0031 . . . . . 0.516129 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||FAM126B|mRNA|CODING|NM_173822|) 0.0005 0.0055 0.0081 0.0005 0.0055 0.0081 . 0.2132 . . . . . . . . 5.210e-03 . . . 0.0007 0.0063 0.0050 0 0.0026 0.0095 0.0114 0.0054 0.0007 0.0051 0.0050 0 0.0026 0.0067 0.0102 0.0055 . . . . . . ncRNA_intronic UTR3 intronic . . . 0.0040 . . . 0.46 0.29 182 ENSG00000183308 FAM126B FAM126B . uc002uww.1:c.*12A>G . . . . 405 0.00623307 64976 385 0.00641816 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74503544 . . . . . . . . . . . . . . . . . . . . . . . 0.005537 . . . . . 0.0010 0.0057 0.0052 0.0179 5.826e-05 0.0027 0.0066 0.0111 0.0056 0.0016 0.0040 0.0072 0.0232 0 0.0026 0.0057 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs74503544 rs74503544 1 1538 10 1/0 0,255,255 +rs146158348 2 209179036 G A - PIKFYVE 23785 Phosphoinositide kinase, FYVE finger containing NM_015040.3 1 9901 6297 NP_055855.2 Q9Y2I7 substitution missense exon GRCh37 209179036 209179036 Chr2(GRCh37):g.209179036G>A 1715 1715 NM_015040.3:c.1715G>A p.Arg572Gln p.Arg572Gln 14 609414 19 3' 73.4002 6.36144 0.348916 0 73.4002 6.36144 0.40949 0 0.0578688 rs146158348 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.003000 0.000000 0.001505 0.000375 0.000552 0.000000 0.000000 0.000455 0.002529 0.001862 0.001084 0.002529 417 9 19 0 0 14 320 48 7 277020 24026 34416 10148 18862 30778 126552 25780 6458 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 415 9 19 0 0 14 318 48 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4404 12989 15 2 17 0.00174419 0.000453926 0.00130709 0.00174419 0.000453926 0.00130709 77 RCV000335905.1 germline clinical testing Likely benign 1 Fleck corneal dystrophy transition G A G>A 0.969 6.178 R Arg CGA 0.110 Q Gln CAA 0.256 572 1 1 1 0.65 0.89 10.V 10.V 124 85 43 255 PASS . 0.0005 . . 0.0013 . 0.0008 . . 0.003 0.001 . . PIKFYVE:NM_015040:exon14:c.G1715A:p.R572Q . . 0.61290324 . . germline 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.954 . Likely//\@benign Likely_benign RCV000335905.1 Fleck_corneal_dystrophy MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 1 0.998 . . 31.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R572Q|PIKFYVE|mRNA|CODING|NM_015040|NM_015040.ex.14) 0.0005 0.0013 0.0017 0.0005 0.0013 0.0017 . 0.6893 0.741 0.689 c . . . . . 1.523e-03 . . . 0.0004 0.0012 0.0005 0 0.0011 0.0021 0 0.0005 0.0004 0.0014 0.0004 0 0.0026 0.0022 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.307 . . exonic exonic exonic . . 0.849 0.0008 . . . 0.61 0.65 182 ENSG00000115020 PIKFYVE PIKFYVE . . . 1.000 0.747 . 91 0.00140052 64976 87 0.00145034 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.364 0.015 . . 37 . 0.429 . . 0.223 . . . 0.203 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.764 . . 0.725 . . . . . . 0 0.377 . . . . . 0.957 . 0.636 . HET 0.01 rs146158348 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 19.6264 5.35E-4 . 5.VI 5.VI . 0.230000 . . . Name\x3dnsv875752 0.001307 . 0.993 . . 5.VI 0.0003 0.0014 0.0005 0 0 0.0017 0.0023 0.0011 0.0005 0.0005 0.0024 0.0012 0 0 0.0026 0.0040 0.0010 . . 0.924 . 2.625 2.625000 . . 0.230000 . . 1.0E-255 1.000 0.715 . 0.426 0.895 . 0.980 . 0.551 2.625 0.917 0.0017 . . rs146158348 rs146158348 1 1538 10 1/0 0,255,255 +rs142693704 2 211469907 G T - CPS1 2323 Carbamoyl-phosphate synthase 1, mitochondrial NM_001122633.2 1 5725 4521 NP_001116105.1 substitution missense exon GRCh37 211469907 211469907 Chr2(GRCh37):g.211469907G>T 1936 1936 NM_001122633.2:c.1936G>T p.Ala646Ser p.Ala646Ser 18 608307 -64 5' 84.1408 9.87848 0.945123 4.18475 84.1408 9.87848 0.945123 3.60806 0 Carbamoyl-phosphate synthetase, large subunit, ATP-binding ATP-grasp fold, ATP-dependent carboxylate-amine ligase-type D-alanine--D-alanine ligase, C-terminal ATP-grasp fold rs142693704 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000333 0.000083 0.000088 0.000000 0.000000 0.000000 0.000649 0.000116 0.000311 0.000649 92 2 3 0 0 0 82 3 2 276400 24002 34284 10138 18766 30774 126254 25758 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 92 2 3 0 0 0 82 3 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 166 CM063936 Carbamoyl phosphate synthetase I deficiency 16737834 DM transversion G T G>T 1.000 1.658 A Ala GCT 0.263 S Ser TCT 0.185 646 12 9 Baker's yeast 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 239.36 17.80 Deleterious 0.03 III.58 good 3.609E-2 0.01331 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.45 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.348 . . 100.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . -0.2318 -0.037 -0.232 c . . . . . 4.578e-04 . . . 0 0.0004 0.0002 0 0 0.0008 0 0 0 0.0004 9.055e-05 0 0.0003 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.971 . . exonic exonic exonic . . 0.407 0.0002 . . . 0.43 0.27 182 ENSG00000021826 CPS1 CPS1 . . . 0.002 0.090 . 20 0.000307806 64976 19 0.000316741 59986 Uncertain_significance . 0 . 0.460 . . . . D 0.735 0.080 . . 37 . 0.923 . . 0.885 . . . 0.217 0.417 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.314 . . 0 0 0 0 0 0 . 0.067 . . 0.112 . . . . . . 0 0.248 . . . . . 0.799 . 0.670 . HET 0.07 rs142693704 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 15.9892 0.0 . V.69 III.64 . 0.160000 . . . . 0.000615 . 0.434 . . III.64 0 0.0003 8.97e-05 0 0 8.983e-05 0.0007 0.0004 0 0.0002 0.0002 0 0 0 0.0003 0.0003 0 . . 0.428 . 1.323 1.323000 . . 0.160000 . . 1.0E-255 1.000 0.715 . 0.888 0.969 . 0.456 . 0.713 1.323 -0.045 0.0013 . . rs142693704 rs142693704 1 1538 10 1/0 0,253,255 +. 2 219299817 AC A - VIL1 12690 Villin 1 NM_007127.2 1 2738 2484 NP_009058.2 P09327 deletion intron GRCh37 219299818 219299818 Chr2(GRCh37):g.219299818del 1681-194 1681-194 NM_007127.2:c.1681-194del p.? p.? 15 14 193040 -194 3' 92.1137 8.71883 0.995965 XII.28 92.1137 8.71883 0.995965 XII.28 0 C 255 Pass . . . . . . . . . . . . . . . . 0.64705884 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 17 . . INTRON(MODIFIER||||VIL1|mRNA|CODING|NM_007127|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000127831 VIL1 VIL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1009419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,19 +rs149531761 2 220044474 A G - CNPPD1 25220 Cyclin Pas1/PHO80 domain containing 1 NM_001321389.1 -1 2350 1233 NP_001308318.1 Q9BV87 substitution upstream GRCh37 220044474 220044474 Chr2(GRCh37):g.220044474A>G -2074 -2074 NM_001321389.1:c.-2074T>C p.? p.? 1 -2055 5' 82.5023 7.07454 0.235318 0 82.5023 7.07454 0.235318 0 0 rs149531761 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.002615 0.000167 0.000349 0.000000 0.000000 0.000000 0.002138 0.015975 0.004020 0.015975 725 4 12 0 0 0 271 412 26 277234 24024 34420 10152 18870 30782 126728 25790 6468 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000233 0.000000 3 0 0 0 0 0 0 3 0 719 4 12 0 0 0 271 406 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4403 12985 18 3 21 0.00209302 0.00068089 0.00161464 0.00209302 0.00068089 0.00161464 129 transition T C T>C 1.000 0.286 255 PASS . 0.0032 . . 0.01 . 0.0014 . . 0.007 . ENSG00000144567:ENST00000452293:exon2:c.A301G:p.T101A FAM134A:uc002vjw.4:exon3:c.A408G:p.P136P FAM134A:NM_024293:exon3:c.A408G:p.P136P . . 0.55737704 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . 0.0007 0.0016 0.0021 0.0007 0.0016 0.0021 . I.67 . . . . . . . . 2.415e-03 . . . 0.0003 0.0016 0.0002 0 0.0168 0.0017 0.0014 0 0.0003 0.0025 0.0002 0 0.0157 0.0028 0.0058 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.6 0.49 182 ENSG00000144567 FAM134A FAM134A . . . . . . 179 0.00275486 64976 172 0.00286734 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs149531761 . . . . . . . . . . . . . . . . . . . . . . . 0.001615 . . . . . 0.0003 0.0025 0.0003 0 0 0.0158 0.0022 0.0031 0 0 0.0032 0.0012 0 0 0.0169 0.0020 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149531761 rs149531761 1 1538 10 1/0 0,255,255 +rs149531761 2 220044474 A G - RETREG2 28450 Reticulophagy regulator family member 2 NM_024293.5 1 4641 1632 NP_077269.3 Q8NC44 substitution synonymous exon GRCh37 220044474 220044474 Chr2(GRCh37):g.220044474A>G 408 408 NM_024293.5:c.408A>G p.Pro136= p.Pro136Pro 3 -12 5' 95.6376 X.36 0.995357 X.45 95.6376 X.36 0.995357 11.052 0 Reticulon rs149531761 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.002615 0.000167 0.000349 0.000000 0.000000 0.000000 0.002138 0.015975 0.004020 0.015975 725 4 12 0 0 0 271 412 26 277234 24024 34420 10152 18870 30782 126728 25790 6468 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000233 0.000000 3 0 0 0 0 0 0 3 0 719 4 12 0 0 0 271 406 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4403 12985 18 3 21 0.00209302 0.00068089 0.00161464 0.00209302 0.00068089 0.00161464 129 transition A G A>G 1.000 0.286 P Pro CCA 0.274 P Pro CCG 0.115 136 255 PASS . 0.0032 . . 0.01 . 0.0014 . . 0.007 . ENSG00000144567:ENST00000452293:exon2:c.A301G:p.T101A FAM134A:uc002vjw.4:exon3:c.A408G:p.P136P FAM134A:NM_024293:exon3:c.A408G:p.P136P . . 0.55737704 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . 0.0007 0.0016 0.0021 0.0007 0.0016 0.0021 . I.67 . . . . . . . . 2.415e-03 . . . 0.0003 0.0016 0.0002 0 0.0168 0.0017 0.0014 0 0.0003 0.0025 0.0002 0 0.0157 0.0028 0.0058 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.6 0.49 182 ENSG00000144567 FAM134A FAM134A . . . . . . 179 0.00275486 64976 172 0.00286734 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs149531761 . . . . . . . . . . . . . . . . . . . . . . . 0.001615 . . . . . 0.0003 0.0025 0.0003 0 0 0.0158 0.0022 0.0031 0 0 0.0032 0.0012 0 0 0.0169 0.0020 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149531761 rs149531761 1 1538 10 1/0 0,255,255 +. 2 220082365 C CAA - ABCB6 47 ATP binding cassette subfamily B member 6 (Langereis blood group) NM_005689.3 -1 3045 2529 NP_005680.1 Q9NP58 duplication intron GRCh37 220082365 220082366 Chr2(GRCh37):g.220082366_220082367dup 687+25 687+26 NM_005689.3:c.687+25_687+26dup p.? p.? 2 2 605452 26 5' 71.2846 7.28962 0.867592 4.46193 71.2846 7.28962 0.867592 4.91567 0 Cryptic Acceptor Strongly Activated 220082361 I.22 0.685258 85.2671 1.66634 0.838765 85.2671 0.003429 0.012634 0.003277 0.005852 0.000657 0.005274 0.001412 0.000205 0.005189 0.012634 415 184 39 23 5 66 82 2 14 121044 14564 11900 3930 7616 12514 58058 9764 2698 0.000017 0.000137 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 71 12 2 1 1 23 28 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.30555555 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36 . . . . . . . . . . . . . . . . . . . . . . . 0.0143 0.0047 0.0033 0.0005 0 0.0025 0 0.0082 0.0146 0.0038 0.0031 0.0007 0.0002 0.0018 0.0022 0.0083 . . . . . . intronic intronic intronic . . . . . . . . . . . ABCB6 ABCB6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs370883149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0171 0.0036 0.0034 0.0062 0.0008 0.0002 0.0017 0.0064 0.0053 0.0086 0.0029 0.0018 0 0 0 0.0002 0.0015 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +. 2 220082365 C CAA - ATG9A 22408 Autophagy related 9A NM_001077198.2 -1 3822 2520 NP_001070666.1 Q7Z3C6 duplication downstream GRCh37 220082365 220082366 Chr2(GRCh37):g.220082366_220082367dup *2802 *2803 NM_001077198.2:c.*2802_*2803dup p.? p.? 16 612204 2809 3' 89.7903 12.917 0.996519 15.6091 89.7903 12.917 0.996519 15.6091 0 Cryptic Acceptor Strongly Activated 220082361 I.22 0.685258 85.2671 1.66634 0.838765 85.2671 0.003429 0.012634 0.003277 0.005852 0.000657 0.005274 0.001412 0.000205 0.005189 0.012634 415 184 39 23 5 66 82 2 14 121044 14564 11900 3930 7616 12514 58058 9764 2698 0.000017 0.000137 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 71 12 2 1 1 23 28 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.30555555 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36 . . . . . . . . . . . . . . . . . . . . . . . 0.0143 0.0047 0.0033 0.0005 0 0.0025 0 0.0082 0.0146 0.0038 0.0031 0.0007 0.0002 0.0018 0.0022 0.0083 . . . . . . intronic intronic intronic . . . . . . . . . . . ABCB6 ABCB6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs370883149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0171 0.0036 0.0034 0.0062 0.0008 0.0002 0.0017 0.0064 0.0053 0.0086 0.0029 0.0018 0 0 0 0.0002 0.0015 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +rs202141932 2 220421310 G A - OBSL1 29092 Obscurin-like 1 NM_015311.2 -1 6112 5691 NP_056126.1 substitution missense exon GRCh37 220421310 220421310 Chr2(GRCh37):g.220421310G>A 4202 4202 NM_015311.2:c.4202C>T p.Pro1401Leu p.Pro1401Leu 13 610991 -135 5' 82.0509 4.36432 0.786246 3.13097 82.0509 4.36432 0.786246 3.13097 0 Immunoglobulin I-set Immunoglobulin Immunoglobulin-like Immunoglobulin subtype rs202141932 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.001949 0.000042 0.000029 0.000296 0.000000 0.000000 0.001019 0.015120 0.002477 0.015120 540 1 1 3 0 0 129 390 16 277112 24014 34420 10146 18860 30782 126636 25794 6460 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 538 1 1 3 0 0 129 388 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8478 4240 12718 4 0 4 0.000471587 0 0.000314416 0.000471587 0 0.000314416 62 transition C T C>T 0.024 2.304 P Pro CCA 0.274 L Leu CTA 0.070 1401 12 9 Zebrafish -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 240.36 0.00 Tolerated 0.76 III.33 good 5.381E-1 0.2457 255 PASS . 0.0018 0.0028 . 0.004 . 0.0008 0.0014 . 0.003 . . . . . . 0.5051546 . . @ 147 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.312 . @ . . . . . 1 0.595 . . 291.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . -0.1710 -0.239 -0.171 c . . . . . 1.683e-03 . . . 0 0.0009 0.0002 0 0.0153 0.0005 0.0014 0 0 0.0018 0.0002 0 0.0150 0.0015 0.0058 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.677 . . exonic exonic exonic . . 0.515 0.0008 . . . 0.18 0.17 182 ENSG00000124006 OBSL1 OBSL1 . . . 1.000 0.489 . 132 0.00203152 64976 128 0.00213383 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.550 . . 0.498 . . . 0.482 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.757 . . 0 0 0 0 0 0 . 0.556 . . 0.630 . . . . . . 0 0.248 . . . . . 0.864 . 0.278 . HET 0.01 rs202141932 . . . . . . . 0.0018315018315018315 0.0 0.0027624309392265192 0.0 0.00395778364116095 17.0957 2.81E-4 ENST00000456147 IV.36 IV.36 . 0.170000 . . . . 0.000314 . 0.213 . . IV.36 0 0.0018 2.978e-05 0.0003 0 0.0149 0.0009 0.0016 0 0.0001 0.0028 0 0 0 0.0163 0.0015 0.0071 . . 0.413 . 2.266 2.266000 . . 0.170000 . . 1.0E-255 0.965 0.337 . 0.135 0.013 . 0.557 . 0.613 2.266 0.917 0.004 . . rs202141932 rs202141932 1 1538 10 1/0 0,215,234 +rs199991707 2 220432169 G A - OBSL1 29092 Obscurin-like 1 NM_015311.2 -1 6112 5691 NP_056126.1 substitution missense exon GRCh37 220432169 220432169 Chr2(GRCh37):g.220432169G>A 1663 1663 NM_015311.2:c.1663C>T p.Arg555Trp p.Arg555Trp 4 610991 129 3' 83.4413 8.79057 0.930684 5.21145 83.4413 8.79057 0.930684 5.21145 0 Fibronectin, type III rs199991707 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.001998 0.000084 0.000029 0.000297 0.000159 0.000000 0.001145 0.014897 0.002491 0.014897 550 2 1 3 3 0 144 381 16 275290 23720 34306 10092 18826 30568 125778 25576 6424 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 548 2 1 3 3 0 144 379 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8361 4086 12447 5 0 5 0.000597657 0 0.000401542 0.000597657 0 0.000401542 25 transition C T C>T 1.000 0.609 R Arg CGG 0.207 W Trp TGG 1.000 555 12 10 Zebrafish -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 253.50 46.86 Deleterious 0.01 III.33 bad 2.042E-3 0.003658 255 PASS . 0.0014 . . 0.004 . 0.0008 0.0014 . 0.003 . . . . . . 0.4054054 . . @ 30 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.915 . @ . . . . . 1 0.981 . . 74.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . 0.4916 0.389 0.492 c . . . . . 1.807e-03 . . . 0 0.0010 0.0002 0.0002 0.0164 0.0007 0.0015 0 0 0.0020 0.0002 0.0001 0.0158 0.0019 0.0062 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.618 . . exonic exonic exonic . . 0.340 0.0008 . . . 0.46 0.34 182 ENSG00000124006 OBSL1 OBSL1 . . . 0.997 0.348 . 132 0.00203152 64976 128 0.00213383 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.785 . . 0.801 . . . 0.901 0.489 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.899 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.784 . . . . . 0.521 . 0.697 . HET 0 rs199991707 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 XI.33 2.94E-4 . IV.92 3.IV . 0.030000 . . . . 0.000402 . 0.432 . . 3.IV 0 0.0019 2.988e-05 0.0003 0.0002 0.0147 0.0011 0.0017 0 0.0002 0.0029 0 0 0 0.0163 0.0015 0.0071 . . 0.522 . 0.613 0.613000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.409 . 0.713 0.613 0.917 0.004 . . rs199991707 rs199991707 1 1538 10 1/0 0,255,255 +rs181107871 2 220505285 G A - SLC4A3 11029 Solute carrier family 4 member 3 NM_001326559.1 1 4301 3780 NP_001313488.1 substitution synonymous exon GRCh37 220505285 220505285 Chr2(GRCh37):g.220505285G>A 3492 3492 NM_001326559.1:c.3492G>A p.Pro1164= p.Pro1164Pro 21 106195 -37 5' 84.5939 VIII.53 0.980394 X.76 84.5939 VIII.53 0.980394 X.86 0 New Acceptor Site 220505287 4.06312 0.045483 75.2731 rs181107871 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.002090 0.000042 0.000058 0.000296 0.000000 0.000000 0.001099 0.016292 0.002167 0.016292 579 1 2 3 0 0 139 420 14 276970 24024 34414 10150 18868 30778 126494 25780 6462 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 2 0 0 0 0 0 0 2 0 575 1 2 3 0 0 139 416 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 140 COSM6466999 Lung 0.000419 2388 transition G A G>A 0.079 -2.377 P Pro CCG 0.115 P Pro CCA 0.274 1164 255 PASS . 0.0014 . . 0.004 . 0.0008 0.0014 . 0.003 . . . . . . 0.4465409 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 159.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.0801 . . . . . . . . 1.792e-03 . . . 0 0.0010 8.648e-05 0 0.0145 0.0008 0.0028 0 0 0.0019 8.916e-05 0 0.0154 0.0017 0.0072 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.24 0.57 182 ENSG00000114923 SLC4A3 SLC4A3 . . . . . . 134 0.0020623 64976 130 0.00216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181107871 . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0 0.0019 5.957e-05 0.0003 0 0.0156 0.0010 0.0013 0 0.0001 0.0033 0 0 0 0.0206 0.0015 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs181107871 rs181107871 1 1538 10 1/0 0,237,255 +. 2 224640534 G A - AP1S3 18971 Adaptor-related protein complex 1, sigma 3 subunit NM_001039569.1 -1 4002 465 NP_001034658.1 substitution intron GRCh37 224640534 224640534 Chr2(GRCh37):g.224640534G>A 291+84 291+84 NM_001039569.1:c.291+84C>T p.? p.? 3 3 615781 84 5' 87.0783 8.62318 0.989303 6.40622 87.0783 8.62318 0.989303 6.40622 0 transition C T C>T 0.008 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.41463414 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.1132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000152056 AP1S3 AP1S3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs375704768 2 228996671 A G - SPHKAP 30619 SPHK1 interactor, AKAP domain containing NM_001142644.1 -1 6913 5103 NP_001136116.1 Q2M3C7 substitution intron GRCh37 228996671 228996671 Chr2(GRCh37):g.228996671A>G 138+25 138+25 NM_001142644.1:c.138+25T>C p.? p.? 2 2 611646 25 5' 81.2188 9.23916 0.59861 5.08317 81.2188 9.23916 0.59861 5.36726 0 rs375704768 yes no Frequency 1 A 0.000000 0 0.000547 0.000083 0.000088 0.000000 0.000000 0.000033 0.001104 0.000155 0.000311 0.001104 151 2 3 0 0 1 139 4 2 275908 24030 34282 10096 18816 30604 125890 25750 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 2 3 0 0 1 139 4 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4406 12991 15 0 15 0.00174419 0 0.00115331 0.00174419 0 0.00115331 64 transition T C T>C 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . 0.0012 0.0017 . 0.0012 0.0017 . 0.1262 . . . . . . . . 4.894e-04 . . . 9.636e-05 0.0005 0 0 0.0005 0.0009 0.0028 0 0 0.0004 0 0 0.0003 0.0008 0.0029 0 . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.28 182 ENSG00000153820 SPHKAP SPHKAP . . . . . . 38 0.000584831 64976 38 0.000633481 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375704768 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv875926 0.001153 . . . . . 6.538e-05 0.0006 8.97e-05 0 0 0.0002 0.0012 0.0004 3.268e-05 0.0001 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs375704768 rs375704768 1 1538 10 1/0 0,255,255 +rs371243645 2 230453214 G A - DNER 24456 Delta/notch-like EGF repeat containing NM_139072.3 -1 3272 2214 NP_620711.3 Q8NFT8 substitution intron GRCh37 230453214 230453214 Chr2(GRCh37):g.230453214G>A 586-10 586-10 NM_139072.3:c.586-10C>T p.? p.? 3 2 607299 -10 3' 93.2748 13.004 0.995154 XII.74 96.3513 13.0855 0.996343 XII.84 0.0134811 rs371243645 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000574 0.003054 0.000386 0.000450 0.000508 0.000211 0.000223 0.000070 0.001129 0.003054 86 49 6 2 5 3 16 1 4 149696 16046 15550 4444 9852 14204 71790 14268 3542 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.086 247 PASS . . . . . 0.003 0.0008 . . . . . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||DNER|mRNA|CODING|NM_139072|) . . . . . . . -0.5211 . . . . . . . . . . . . 0.0035 0.0005 0.0003 0 0 6.982e-05 0 0 0.0038 0.0004 0.0001 0 0 5.585e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0019 . . . . . . ENSG00000187957 DNER DNER . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371243645 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0.0044 0.0006 0.0004 0.0005 0.0006 8.401e-05 0.0002 0.0015 0.0002 0.0018 0.0006 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs371243645 rs371243645 1 1538 10 1/0 0,0,0 +rs745867476 2 231176314 G A - SP140 17133 SP140 nuclear body protein NM_007237.4 1 3250 2604 NP_009168.4 Q13342 substitution splice site GRCh37 231176314 231176314 Chr2(GRCh37):g.231176314G>A 2505+4 2505+4 NM_007237.4:c.2505+4G>A p.? p.? 26 26 608602 4 5' 89.6127 X.54 0.984221 9.03331 99.6933 X.84 0.997857 10.0767 0.0652222 Cryptic Donor Weakly Activated 231176310 X.54 0.984221 89.6127 X.84 0.997857 99.6933 rs745867476 yes no Frequency 1 0.000000 0 0.004338 0.002583 0.002394 0.016718 0.000183 0.008460 0.004685 0.003563 0.004507 0.016718 896 55 52 76 3 149 466 75 20 206550 21294 21718 4546 16416 17612 99476 21050 4438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 896 55 52 76 3 149 466 75 20 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.924 209 PASS . . . . . . . . . . . . . . . . 0.18367347 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.1456 . . . . . . . . 1.786e-03 . . . 0.0015 0.0018 0.0003 0 0 0.0015 0 0.0069 0.0016 0.0015 0.0003 0 0 0.0011 0 0.0070 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000079263 SP140 SP140 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs745867476 . . . . . . . . . . . . . . . . . . . . 0 0.02 . . . . . . . 0.0012 0.0041 0.0023 0.0174 6.726e-05 0.0027 0.0044 0.0044 0.0085 0.0051 0.0062 0.0055 0.0041 0.0013 0.0090 0.0071 0.0051 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 2 231861037 GCCTAGCCCTGAATCCACACCA G - SPATA3 17884 Spermatogenesis associated 3 NM_139073.3 1 870 579 NP_620712.2 delins in-frame exon GRCh37 231861037 231861058 Chr2(GRCh37):g.231861037_231861058delinsG 89 110 NM_139073.3:c.89_110delinsG p.Gln30_Pro37delinsArg p.Gln30_Pro37delinsArg 1 -192 5' 79.7784 8.06623 0.78921 4.56731 79.7784 8.06623 0.78921 4.56731 0 G AGCCTAGCCCTGAATCCACACC 255 Pass . . . . . . . . . . . ENSG00000173699:ENST00000440792:wholegene SPATA3:uc010zmd.2:exon1:c.90_110del:p.30_37del SPATA3:NM_139073:exon1:c.90_110del:p.30_37del . . 0.16049382 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000173699 SPATA3 SPATA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . 3.1072 . . III.63 1.II . 0.900000 . . . Name\x3dnsv875956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,79 +. 2 231861037 GCCTAGCCCTGAATCCACACCA G - SPATA3-AS1 28013 SPATA3 antisense RNA 1 (head to head) NR_033879.1 -1 3509 0 delins upstream GRCh37 231861037 231861058 Chr2(GRCh37):g.231861037_231861058delinsG -311 -290 NR_033879.1:n.-311_-290delinsC p.? p.? 1 -475 5' 77.2441 5.03136 0.334915 3.43391 77.2441 5.03136 0.334915 3.43391 0 C GGTGTGGATTCAGGGCTAGGCT 255 Pass . . . . . . . . . . . ENSG00000173699:ENST00000440792:wholegene SPATA3:uc010zmd.2:exon1:c.90_110del:p.30_37del SPATA3:NM_139073:exon1:c.90_110del:p.30_37del . . 0.16049382 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000173699 SPATA3 SPATA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . 3.1072 . . III.63 1.II . 0.900000 . . . Name\x3dnsv875956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,79 +rs13005918 2 231861044 C T - SPATA3 17884 Spermatogenesis associated 3 NM_139073.3 1 870 579 NP_620712.2 substitution synonymous exon GRCh37 231861044 231861044 Chr2(GRCh37):g.231861044C>T 96 96 NM_139073.3:c.96C>T p.Ser32= p.Ser32Ser 1 -206 5' 79.7784 8.06623 0.78921 4.56731 79.7784 8.06623 0.78921 4.56731 0 rs13005918 yes no Frequency/1000G 2 C 0.000000 0 0.476637 0.328300 0.459100 0.670600 0.517900 0.442400 0.000013 0.000127 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000127 2 1 0 0 0 0 1 0 0 151622 7890 23582 8216 10078 22662 58492 16740 3962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 170 Exomes 1544 909 2453 1638 475 2113 0.485229 0.343208 0.462768 0.514771 0.343208 0.462768 155 transition C T C>T 0.008 -0.037 S Ser AGC 0.243 S Ser AGT 0.149 32 179 PASS . . . . . 0.33 0.48 0.44 0.67 0.52 0.46 . SPATA3:uc010zmd.2:exon1:c.C96T:p.S32S SPATA3:NM_139073:exon1:c.C96T:p.S32S . . 0.14606741 . . @ 13 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . 0.34 0.46 0.51 0.34 0.46 0.51 . -0.0023 . . . . . . . . . . . . 0.0017 0.0006 0 0 0 0.0007 0 0 0.0023 0.0007 0 0 0 0.0011 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.4766 . . . 0.24 0.27 182 ENSG00000173699 SPATA3 SPATA3 . . . . . . 27737 0.426881 64976 25372 0.422965 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs13005918 0.185 0.210 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv875956 0.462768 . . . . . 0.0001 1.319e-05 0 0 0 0 1.71e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . 0.51 rs13005918 rs13005918 rs13005918 rs13005918 1 1538 10 1/0 0,252,255 +rs13005918 2 231861044 C T - SPATA3-AS1 28013 SPATA3 antisense RNA 1 (head to head) NR_033879.1 -1 3509 0 substitution upstream GRCh37 231861044 231861044 Chr2(GRCh37):g.231861044C>T -297 -297 NR_033879.1:n.-297G>A p.? p.? 1 -482 5' 77.2441 5.03136 0.334915 3.43391 77.2441 5.03136 0.334915 3.43391 0 rs13005918 yes no Frequency/1000G 2 C 0.000000 0 0.476637 0.328300 0.459100 0.670600 0.517900 0.442400 0.000013 0.000127 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000127 2 1 0 0 0 0 1 0 0 151622 7890 23582 8216 10078 22662 58492 16740 3962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 170 Exomes 1544 909 2453 1638 475 2113 0.485229 0.343208 0.462768 0.514771 0.343208 0.462768 155 transition G A G>A 0.008 -0.037 179 PASS . . . . . 0.33 0.48 0.44 0.67 0.52 0.46 . SPATA3:uc010zmd.2:exon1:c.C96T:p.S32S SPATA3:NM_139073:exon1:c.C96T:p.S32S . . 0.14606741 . . @ 13 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . 0.34 0.46 0.51 0.34 0.46 0.51 . -0.0023 . . . . . . . . . . . . 0.0017 0.0006 0 0 0 0.0007 0 0 0.0023 0.0007 0 0 0 0.0011 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.4766 . . . 0.24 0.27 182 ENSG00000173699 SPATA3 SPATA3 . . . . . . 27737 0.426881 64976 25372 0.422965 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs13005918 0.185 0.210 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv875956 0.462768 . . . . . 0.0001 1.319e-05 0 0 0 0 1.71e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . 0.51 rs13005918 rs13005918 rs13005918 rs13005918 1 1538 10 1/0 0,252,255 +. 2 231861110 A T - SPATA3 17884 Spermatogenesis associated 3 NM_139073.3 1 870 579 NP_620712.2 substitution synonymous exon GRCh37 231861110 231861110 Chr2(GRCh37):g.231861110A>T 162 162 NM_139073.3:c.162A>T p.Thr54= p.Thr54Thr 1 -140 5' 79.7784 8.06623 0.78921 4.56731 79.7784 8.06623 0.78921 4.56731 0 Cryptic Acceptor Strongly Activated 231861117 2.58708 0.009914 67.8783 5.46291 0.117572 72.8794 rs906910816 no no 0 A 0.000000 0 0.000013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 0.000034 2 0 0 0 0 0 2 0 0 153356 8004 23972 8280 10244 22822 59122 16912 4000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes transversion A T A>T 0.000 0.125 T Thr ACA 0.280 T Thr ACT 0.243 54 255 PASS . . . . . . . . . . . . SPATA3:uc010zmd.2:exon1:c.A162T:p.T54T SPATA3:NM_139073:exon1:c.A162T:p.T54T . . 0.38053098 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . . . . . . . -0.7411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000173699 SPATA3 SPATA3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . II.66 . ENST00000423134 III.91 0.821 . 0.000000 . . . . . . . . . . 0 1.304e-05 0 0 0 0 3.383e-05 0 0 . . . . . . . . . . . . 0.140 0.140000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.140 . . . . . . 1 1538 10 1/0 0,247,255 +. 2 231861110 A T - SPATA3-AS1 28013 SPATA3 antisense RNA 1 (head to head) NR_033879.1 -1 3509 0 substitution upstream GRCh37 231861110 231861110 Chr2(GRCh37):g.231861110A>T -363 -363 NR_033879.1:n.-363T>A p.? p.? 1 -548 5' 77.2441 5.03136 0.334915 3.43391 77.2441 5.03136 0.334915 3.43391 0 rs906910816 no no 0 A 0.000000 0 0.000013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 0.000034 2 0 0 0 0 0 2 0 0 153356 8004 23972 8280 10244 22822 59122 16912 4000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes transversion T A T>A 0.000 0.125 255 PASS . . . . . . . . . . . . SPATA3:uc010zmd.2:exon1:c.A162T:p.T54T SPATA3:NM_139073:exon1:c.A162T:p.T54T . . 0.38053098 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . . . . . . . -0.7411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000173699 SPATA3 SPATA3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . II.66 . ENST00000423134 III.91 0.821 . 0.000000 . . . . . . . . . . 0 1.304e-05 0 0 0 0 3.383e-05 0 0 . . . . . . . . . . . . 0.140 0.140000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.140 . . . . . . 1 1538 10 1/0 0,247,255 +. 2 232321585 T TG - NCL 7667 Nucleolin NM_005381.2 -1 2717 2133 NP_005372.2 P19338 insertion intron GRCh37 232321585 232321586 Chr2(GRCh37):g.232321585_232321586insG 1572-111 1572-110 NM_005381.2:c.1572-111_1572-110insC p.? p.? 11 10 164035 -110 3' 87.9223 8.68058 0.804788 1.94547 87.9223 8.68058 0.804788 1.94547 0 C 255 Pass . . . . . . . . . . . . . . . . 0.3888889 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000115053 NCL NCL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +. 2 232321585 T TG - SNORA75 32661 Small nucleolar RNA, H/ACA box 75 NR_002921.1 -1 137 0 insertion upstream GRCh37 232321585 232321586 Chr2(GRCh37):g.232321585_232321586insG -939 -938 NR_002921.1:n.-939_-938insC p.? p.? 1 C 255 Pass . . . . . . . . . . . . . . . . 0.3888889 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000115053 NCL NCL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +. 2 232321585 T TG - SNORD20 10143 Small nucleolar RNA, C/D box 20 NR_002908.1 -1 80 0 insertion upstream GRCh37 232321585 232321586 Chr2(GRCh37):g.232321585_232321586insG -352 -351 NR_002908.1:n.-352_-351insC p.? p.? 1 604012 C 255 Pass . . . . . . . . . . . . . . . . 0.3888889 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000115053 NCL NCL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +rs375429302 2 233625313 C T - GIGYF2 11960 GRB10 interacting GYF protein 2 NM_001103147.1 1 7947 3963 NP_001096617.1 substitution intron GRCh37 233625313 233625313 Chr2(GRCh37):g.233625313C>T 491+12 491+12 NM_001103147.1:c.491+12C>T p.? p.? 8 8 612003 12 5' 86.9973 9.00931 0.933249 2.83012 86.9973 9.00931 0.933249 2.40141 0 rs375429302 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.006100 0.000000 0.001000 0.004300 0.003297 0.000251 0.002715 0.016024 0.000000 0.010763 0.002173 0.000000 0.006877 0.016024 908 6 93 162 0 330 273 0 44 275416 23904 34250 10110 18718 30660 125636 25740 6398 0.000080 0.000000 0.000000 0.000000 0.000000 0.000587 0.000032 0.000000 0.000000 11 0 0 0 0 9 2 0 0 886 6 93 162 0 312 269 0 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4405 12985 20 1 21 0.00232558 0.000226963 0.00161464 0.00232558 0.000226963 0.00161464 108 transition C T C>T 0.000 0.609 255 PASS . . . . . . 0.002 0.0043 . 0.001 0.0061 . . . . . 0.5121951 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0002 0.0016 0.0023 0.0002 0.0016 0.0023 . 0.5087 . . . . . . . . 3.252e-03 . . . 0.0004 0.0046 0.0016 0 0 0.0049 0.0093 0.0110 0.0006 0.0037 0.0015 0 0 0.0034 0.0094 0.0109 . . . . . . ncRNA_exonic intronic intronic . . . 0.0020 . . . 0.63 0.39 182 ENSG00000241409 GIGYF2 GIGYF2 . . . . . . 105 0.00161598 64976 95 0.0015837 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375429302 . . . . . . . . . . . . . . . . . . . . . . . 0.001615 . . . . . 0.0004 0.0036 0.0027 0.0160 0 0 0.0024 0.0076 0.0108 0 0.0008 0.0048 0.0166 0 0 0.0008 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0023 . . rs375429302 rs375429302 1 1538 10 1/0 0,255,255 +rs114498122 2 233671277 G T - GIGYF2 11960 GRB10 interacting GYF protein 2 NM_001103147.1 1 7947 3963 NP_001096617.1 substitution synonymous exon GRCh37 233671277 233671277 Chr2(GRCh37):g.233671277G>T 1779 1779 NM_001103147.1:c.1779G>T p.Ala593= p.Ala593Ala 17 612003 77 3' 78.7345 7.35005 0.815304 3.62872 78.7345 7.35005 0.815304 II.33 0 GYF rs114498122 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.006100 0.000000 0.005000 0.002900 0.004690 0.001165 0.002412 0.016154 0.000000 0.009616 0.005043 0.001512 0.007890 0.016154 1300 28 83 164 0 296 639 39 51 277212 24036 34416 10152 18868 30782 126702 25792 6464 0.000058 0.000000 0.000000 0.000000 0.000000 0.000390 0.000032 0.000000 0.000000 8 0 0 0 0 6 2 0 0 1284 28 83 164 0 284 635 39 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8556 4402 12958 44 4 48 0.00511628 0.000907853 0.0036906 0.00511628 0.000907853 0.0036906 190 transversion G T G>T 0.748 -0.844 A Ala GCG 0.107 A Ala GCT 0.263 593 255 PASS . 0.0009 . . 0.0026 . 0.0026 0.0029 . 0.005 0.0061 . . . . . 0.50980395 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 1 . . . 51.0 . . . 0.0009 0.0037 0.0051 0.0009 0.0037 0.0051 . 0.8691 . . . . . . . . 5.004e-03 . . . 0.0012 0.0054 0.0017 0 0.0018 0.0065 0.0070 0.0101 0.0012 0.0051 0.0017 0 0.0020 0.0060 0.0086 0.0102 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.47 0.1 182 ENSG00000204120 GIGYF2 GIGYF2 . . . . . . 214 0.00329352 64976 201 0.00335078 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114498122 . . . . . . . . . . . . . . . . . . . . . . . 0.003691 . . . . . 0.0010 0.0049 0.0024 0.0161 0 0.0014 0.0052 0.0084 0.0096 0.0014 0.0029 0.0036 0.0166 0 0.0023 0.0037 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0051 . . rs114498122 rs114498122 1 1538 10 1/0 0,255,255 +rs572793316 (chr2:240981795 A/G) 2 240981795 A G Not on a known gene +rs543314423 (chr2:240981823 A/G) 2 240981823 A G Not on a known gene +rs555279440 (chr2:240981851 A/G) 2 240981851 A G Not on a known gene +rs375330202 (chr2:240982019 A/G) 2 240982019 A G Not on a known gene +rs148163158 (chr2:240982047 A/G) 2 240982047 A G Not on a known gene +rs139834525 (chr2:240982075 A/G) 2 240982075 A G Not on a known gene +rs74344384 (chr2:240982103 A/G) 2 240982103 A G Not on a known gene +rs74754936 (chr2:240982142 A/G) 2 240982142 A G Not on a known gene +rs79314166 (chr2:240982144 T/C) 2 240982144 T C Not on a known gene +rs78953006 (chr2:240982171 A/C) 2 240982171 A C Not on a known gene +rs199947939 2 240985126 G A - OR6B3 15042 Olfactory receptor, family 6, subfamily B, member 3 NM_173351.1 -1 996 996 NP_775486.1 Q8NGW1 substitution missense exon GRCh37 240985126 240985126 Chr2(GRCh37):g.240985126G>A 364 364 NM_173351.1:c.364C>T p.Arg122Cys p.Arg122Cys 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs199947939 yes no Frequency 1 G 0.000000 0 0.000211 0.000473 0.000071 0.000000 0.000549 0.000196 0.000201 0.000090 0.000186 0.000549 46 9 2 0 8 5 19 2 1 217664 19032 28314 8292 14576 25518 94450 22100 5382 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 9 2 0 8 5 19 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM6382001 Thyroid 0.001339 747 transition C T C>T 1.000 3.272 R Arg CGC 0.190 C Cys TGC 0.552 122 10 10 Opossum -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C65 0.00 179.53 Deleterious 0 IV.32 bad 2.667E-5 0.0001143 226 PASS . . . . . . . . . . . ENSG00000178586:ENST00000319423:exon1:c.C364T:p.R122C OR6B3:uc010zoe.2:exon1:c.C364T:p.R122C OR6B3:NM_173351:exon1:c.C364T:p.R122C . . 0.23098591 . . @ 82 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.647 . @ . . . . . 1 0.860 . . 355.0 . . . . . . . . . . 0.1566 0.225 0.157 c . . . . . 1.450e-04 . . . 0 0.0003 0 0.0011 0 0.0003 0 0.0004 0 0.0003 0 0.0006 0 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.772 . . exonic exonic exonic . . 0.449 @ . . . 0.17 0.23 182 ENSG00000178586 OR6B3 OR6B3 . . . 0.945 0.276 . . . . . . . Uncertain_significance . 0 . 0.477 . . . . T 0.254 0.010 . . 37 . 0.767 . . 0.798 . . . 0.747 0.494 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.928 . . 0 0 0 0 0 0 . 0.285 . . 0.260 . . . . . . 0 0.574 . . . . . 0.659 . 0.603 . HET 0.01 rs199947939 . . . . . . . . . . . . 14.3266 . ENST00000319423 III.96 III.96 . 0.010000 Q8NGW1 . . . . . 0.643 . . III.96 0.0006 0.0002 7.276e-05 0 0.0006 5.367e-05 0.0002 0 0.0002 0.0004 0.0003 0 0 0 0.0003 0.0002 0.0010 . . 0.133 . 2.471 2.471000 . . 0.010000 . . 1.0000000000000001E-226 1.000 0.715 . 0.625 0.986 . 0.520 . 0.661 2.471 0.917 . rs10176036 rs10176036 rs10176036 rs10176036 1 1538 10 1/0 0,184,255 +rs12695020 2 241403957 G A - GPC1 4449 Glypican 1 NM_002081.2 1 3686 1677 NP_002072.2 P35052 substitution intron GRCh37 241403957 241403957 Chr2(GRCh37):g.241403957G>A 884-76 884-76 NM_002081.2:c.884-76G>A p.? p.? 5 4 600395 -76 3' 64.6328 4.38097 0.107269 1.60143 64.6328 4.38097 0.107269 1.54844 0 Cryptic Donor Strongly Activated 241403954 0.683908 0.009701 66.3571 4.76456 0.415852 70.7195 rs12695020 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.442292 0.501500 0.337400 0.312500 0.584500 0.459700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30748 8644 832 300 1608 0 14894 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transition G A G>A 0.000 -0.360 195 PASS . . . . . 0.5 0.44 0.46 0.31 0.58 0.34 . . . . . 0.1125 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 160.0 . . INTRON(MODIFIER||||GPC1|mRNA|CODING|NM_002081|) . . . . . . . 0.0258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4423 . . . 0.31 0.14 182 ENSG00000063660 GPC1 GPC1 . . . . . . 27478 0.422895 64976 26468 0.441236 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs12695020 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . 0.011 rs12695020 rs12695020 rs12695020 rs12695020 1 1538 10 1/0 0,235,255 +rs12695021 2 241403965 C T - GPC1 4449 Glypican 1 NM_002081.2 1 3686 1677 NP_002072.2 P35052 substitution intron GRCh37 241403965 241403965 Chr2(GRCh37):g.241403965C>T 884-68 884-68 NM_002081.2:c.884-68C>T p.? p.? 5 4 600395 -68 3' 64.6328 4.38097 0.107269 1.60143 64.6328 4.38097 0.107269 1.848 0 Cryptic Donor Strongly Activated 241403963 53.834 1.33289 0.00889 63.9347 rs12695021 yes no Frequency/1000G 2 C 0.000000 0 0.193490 0.304800 0.205500 0.031700 0.211700 0.172900 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30734 8642 832 300 1608 0 14886 3484 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 49 Genomes transition C T C>T 0.000 -0.521 193 PASS . . . . . 0.3 0.19 0.17 0.032 0.21 0.21 . . . . . 0.11046512 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . INTRON(MODIFIER||||GPC1|mRNA|CODING|NM_002081|) . . . . . . . -0.5429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1935 . . . 0.33 0.16 182 ENSG00000063660 GPC1 GPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs12695021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.254e-05 0 0 0 0 6.718e-05 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs12695021 rs12695021 rs12695021 rs12695021 1 1538 10 1/0 0,230,255 +. 2 241403969 T TCC - GPC1 4449 Glypican 1 NM_002081.2 1 3686 1677 NP_002072.2 P35052 insertion intron GRCh37 241403969 241403970 Chr2(GRCh37):g.241403969_241403970insCC 884-64 884-63 NM_002081.2:c.884-64_884-63insCC p.? p.? 5 4 600395 -63 3' 64.6328 4.38097 0.107269 1.60143 64.6328 4.38097 0.107269 1.16417 0 rs111613058 no no 0 0.000000 0 CC 255 Pass . . . . . . . . . . . . . . . . 0.10169491 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 177 . . INTRON(MODIFIER||||GPC1|mRNA|CODING|NM_002081|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000063660 GPC1 GPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111613058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111613058 rs111613058 1 1538 10 1.I 0,4,99 +. 2 241618976 G T - AQP12B 6096 Aquaporin 12B NM_001102467.1 -1 1114 924 NP_001095937.1 substitution intron GRCh37 241618976 241618976 Chr2(GRCh37):g.241618976G>T 724+793 724+793 NM_001102467.1:c.724+793C>A p.? p.? 2 2 793 5' 94.9812 11.083 0.996327 XI.95 94.9812 11.083 0.996327 XI.95 0 0.000187 0.000000 0.000000 0.000000 0.000000 0.000000 0.000286 0.000000 0.000000 0.000286 1 0 0 0 0 0 1 0 0 5348 394 196 84 238 0 3498 762 176 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C A C>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.33846155 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . INTRON(MODIFIER||||AQP12B|mRNA|CODING|NM_001102467|) . . . . . . . 0.4925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000185176 AQP12B AQP12B ENST00000414322:c.*531C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs529645209 2 241634759 C A - AQP12A 19941 Aquaporin 12A NM_198998.2 1 1084 888 NP_945349.1 Q8IXF9 substitution intron GRCh37 241634759 241634759 Chr2(GRCh37):g.241634759C>A 688+793 688+793 NM_198998.2:c.688+793C>A p.? p.? 3 3 609789 793 5' 94.9812 11.083 0.996327 XI.95 94.9812 11.083 0.996327 XI.95 0 rs529645209 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.000800 0.001000 0.000000 0.015900 0.004300 0.007007 0.001490 0.004314 0.000000 0.000000 0.005042 0.014742 0.011765 0.009211 0.014742 209 12 19 0 0 12 143 16 7 29826 8056 4404 316 2850 2380 9700 1360 760 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 209 12 19 0 0 12 143 16 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.279 248 PASS . . . . . 0.0008 0.0042 0.0043 . 0.016 0.001 . . . . . 0.3 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||AQP12A|mRNA|CODING|NM_198998|) . . . . . . . -0.8131 . . . . . . . . 2.451e-03 . . . 0.0217 0.0448 0 0 . 0.0806 0 0 0 0.0625 0 0 0.0556 0.2 . 0 . . . . . . intronic intronic intronic . . . 0.0042 . . . . . . ENSG00000184945 AQP12A AQP12A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs529645209 . . . . . . . . . . . . . . ENST00000373309 0.714 -1.43 . 0.000000 . . . . . . . . . . 0.0016 0.0069 0.0044 0 0 0.0054 0.0151 0.0145 0.0050 0.0014 0.0072 0.0031 0 0 0.0141 0.0143 0 . . . . -0.364 -0.364000 . . 0.000000 . . 1.0E-248 . . . . . . . . . -0.364 . . . . . . 1 1538 10 1/0 0,255,255 +rs114401766 2 241808531 C T - AGXT 341 Alanine-glyoxylate aminotransferase NM_000030.2 1 1598 1179 NP_000021.1 P21549 substitution intron GRCh37 241808531 241808531 Chr2(GRCh37):g.241808531C>T 166-56 166-56 NM_000030.2:c.166-56C>T p.? p.? 2 1 604285 -56 3' 71.8757 6.24216 0.312167 3.75938 71.8757 6.24216 0.312167 III.54 0 rs114401766 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 0.002880 0.001053 0.000000 0.009259 0.000000 0.000000 0.004876 0.001430 0.003030 0.009259 62 7 0 2 0 0 48 3 2 21528 6648 672 216 1390 0 9844 2098 660 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 7 0 2 0 0 48 3 2 0 0 0 0 0 0 0 0 0 RF 68 Genomes RCV000186227.1 germline research VUS 0 Primary hyperoxaluria, type I transition C T C>T 0.299 0.044 197 PASS 0.05 0.05 0.07 0.0035 0.07 . . . . . . . . . . . 0.15183246 . . germline 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000186227.1 . MedGen:OMIM:Orphanet:SNOMED_CT C0268164:259900:ORPHA93598:65520001 2 . . . 382.0 . . INTRON(MODIFIER||||AGXT|mRNA|CODING|NM_000030|) . . . . . . . 0.3502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.38 182 ENSG00000172482 AGXT AGXT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114401766 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0029 0 0.0093 0 0.0014 0.0049 0.0030 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.07 . . rs114401766 rs114401766 1 1538 10 1/0 0,173,255 +rs754274900 2 241827711 T C - C2orf54 26216 Chromosome 2 open reading frame 54 NM_001085437.2 -1 2525 1344 NP_001078906.2 Q08AI8 substitution missense exon GRCh37 241827711 241827711 Chr2(GRCh37):g.241827711T>C 1249 1249 NM_001085437.2:c.1249A>G p.Lys417Glu p.Lys417Glu 4 -3 5' 85.2503 8.22968 0.960154 13.8146 82.5023 7.07454 0.902159 13.0949 -0.0776664 transition A G A>G 1.000 0.690 K Lys AAG 0.575 E Glu GAG 0.583 417 12 11 Platypus 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 53.23 16.44 Deleterious 0.03 III.56 255 PASS . . . . . . . . . . . . . . . . 0.525 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.459 . @ . . . . . 1 0.930 . . 40.0 . . . . . . . . . . -0.0587 0.007 -0.059 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.537 . . exonic exonic exonic . . 0.384 @ . . . . . . ENSG00000172478 C2orf54 C2orf54 . . . 0.731 0.230 . . . . . . . Uncertain_significance . 0 . 0.304 . . . . T 0.413 0.019 . . 37 . 0.365 . . 0.405 . . . 0.659 0.289 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.387 . . 0 0 0 0 0 0 . 0.402 . . 0.363 . . . . . . 0 0.599 . . . . . 0.185 . 0.283 . HET 0.02 . . . . . . . . . . . . . V.33 . . IV.61 III.45 . 0.000000 . 0.0112 0.122 . . . 0.370 . . III.45 . . . . . . . . . . . . . . . . . . . 0.208 . 0.641 0.641000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.536 0.998 . 0.392 . 0.635 0.641 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs200882977 2 241834996 C T - C2orf54 26216 Chromosome 2 open reading frame 54 NM_001085437.2 -1 2525 1344 NP_001078906.2 Q08AI8 substitution missense exon GRCh37 241834996 241834996 Chr2(GRCh37):g.241834996C>T 419 419 NM_001085437.2:c.419G>A p.Arg140His p.Arg140His 1 -96 5' 72.0444 8.68156 0.900624 VI.95 72.0444 8.68156 0.900624 VI.95 0 rs200882977 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.002018 0.000127 0.000495 0.000000 0.000000 0.000000 0.003858 0.001417 0.002348 0.003858 554 3 17 0 0 0 483 36 15 274520 23710 34328 10080 18806 30612 125184 25412 6388 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.000000 0.000000 5 0 0 0 0 0 5 0 0 544 3 17 0 0 0 473 36 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8516 4373 12889 28 3 31 0.00327715 0.000685558 0.00239938 0.00327715 0.000685558 0.00239938 37 transition G A G>A 0.000 0.044 R Arg CGT 0.082 H His CAT 0.413 140 12 5 Platypus 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 260.17 0.00 Tolerated 0.56 III.92 255 PASS . . . . . . 0.0002 0.0014 . . . ENSG00000172478:ENST00000388934:exon1:c.G419A:p.R140H C2orf54:uc002wae.4:exon1:c.G419A:p.R140H C2orf54:NM_001085437:exon1:c.G419A:p.R140H . . 0.42962962 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.399 . @ . . . . . 1 0.781 . . 135.0 . . . 0.0007 0.0024 0.0033 0.0007 0.0024 0.0033 . -0.4855 -0.629 -0.486 c . . . . . 1.924e-03 . . . 0.0005 0.0015 0.0003 0 0.0021 0.0029 0.0033 0 0.0004 0.0019 0.0003 0 0.0016 0.0033 0.0017 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.079 . . exonic exonic exonic . . 0.183 0.0002 . . . 0.13 0.36 182 ENSG00000172478 C2orf54 C2orf54 . . . 0.997 0.351 . 94 0.00144669 64976 93 0.00155036 59986 Uncertain_significance . 0 . 0.015 . . . . T 0.115 0.005 . . 37 . 0.092 . . 0.136 . . . 0.315 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.506 . . 0.464 . . . . . . 0 0.232 . . . . . 0.033 . 0.112 . HET 0.13 rs200882977 . . . . . . . . . . . . 2.0288 5.39E-4 ENST00000388934 V.41 0.901 . 0.190000 Q08AI8 . . . 0.002399 . 0.180 . . . 0.0002 0.0017 0.0005 0 0 0.0016 0.0032 0.0015 0 0 0.0043 0.0012 0 0 0.0003 0.0084 0.0071 . . 0.283 . 0.238 0.238000 . . 0.190000 . . 1.0E-255 0.013 0.187 . 0.134 0.072 . 0.256 . 0.362 0.238 0.033 0.0033 . . rs200882977 rs200882977 1 1538 10 1/0 0,241,255 +rs116160757 2 242163569 C T - ANO7 31677 Anoctamin 7 NM_001001891.3 1 4128 2802 NP_001001891.2 Q6IWH7 substitution 3'UTR GRCh37 242163569 242163569 Chr2(GRCh37):g.242163569C>T *1 *1 NM_001001891.3:c.*1C>T p.? p.? 25 605096 58 3' 75.0945 7.17569 0.947738 9.50456 75.0945 7.17569 0.947738 9.18243 0 rs116160757 yes no Frequency/1000G 2 C 0.000000 0 0.006390 0.000000 0.011200 0.000000 0.018900 0.002900 0.009452 0.001791 0.006805 0.023578 0.000053 0.010367 0.013396 0.000973 0.009774 0.023578 2612 43 234 238 1 319 1689 25 63 276354 24006 34386 10094 18866 30770 126082 25704 6446 0.000159 0.000000 0.000116 0.000396 0.000000 0.000260 0.000174 0.000000 0.000931 22 0 2 2 0 4 11 0 3 2568 43 230 234 1 311 1667 25 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4396 12862 134 10 144 0.0155814 0.00226963 0.0110718 0.0155814 0.00226963 0.0110718 56 transition C T C>T 0.000 -1.489 255 PASS . 0.01 0.01 . 0.02 . 0.0064 0.0029 . 0.019 0.011 . . . . . 0.5072464 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . . 0.0023 0.011 0.016 0.0023 0.011 0.016 . 0.0224 . . . . . . . . 9.556e-03 . . . 0.0020 0.0105 0.0051 0.0002 0.0011 0.0168 0.0042 0.0098 0.0020 0.0089 0.0051 0.0003 0.0010 0.0127 0.0073 0.0098 . . . . . . UTR3 UTR3 UTR3 . . . 0.0064 . . . 0.45 0.75 182 ENSG00000146205 ANO7 ANO7 ENST00000274979:c.*1C>T uc002wax.2:c.*1C>T NM_001001891:c.*1C>T . . . 758 0.0116658 64976 726 0.0121028 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116160757 . . . . . . . . . . . . . . . . . . . . . . . 0.011072 . . . . . 0.0016 0.0097 0.0068 0.0237 5.798e-05 0.0009 0.0136 0.0104 0.0104 0.0022 0.0071 0.0084 0.0199 0 0.0017 0.0118 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs116160757 rs116160757 1 1538 10 1/0 0,255,255 +rs35606623 2 242437023 A G - STK25 11404 Serine/threonine kinase 25 NM_001271977.1 -1 2589 1281 NP_001258906.1 O00506 substitution intron GRCh37 242437023 242437023 Chr2(GRCh37):g.242437023A>G 1104+8 1104+8 NM_001271977.1:c.1104+8T>C p.? p.? 10 10 602255 8 5' 87.5642 8.40856 0.95184 9.75203 87.5642 8.40856 0.982747 X.97 0.0108236 rs35606623 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.001500 0.003100 0.000000 0.008000 0.005800 0.004740 0.000875 0.002209 0.004045 0.000000 0.003833 0.006891 0.005934 0.005115 0.006891 1310 21 76 41 0 118 868 153 33 276394 24004 34412 10136 18858 30782 125968 25782 6452 0.000043 0.000000 0.000000 0.000197 0.000000 0.000000 0.000064 0.000078 0.000000 6 0 0 1 0 0 4 1 0 1298 21 76 39 0 118 860 151 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4398 12940 58 8 66 0.00674419 0.00181571 0.00507458 0.00674419 0.00181571 0.00507458 67 transition T C T>C 0.000 -2.619 255 PASS 0.002 0.0046 0.0028 . 0.01 0.0015 0.0034 0.0058 . 0.008 0.0031 . . . . . 0.5254237 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . 0.0018 0.0051 0.0067 0.0018 0.0051 0.0067 . -0.5683 . . . . . . . . 4.903e-03 . . . 0.0015 0.0047 0.0027 0 0.0074 0.0068 0.0057 0.0036 0.0013 0.0049 0.0028 0 0.0065 0.0067 0.0101 0.0036 . . . . . . intronic UTR3 intronic . . . 0.0034 . . . 0.17 0.17 182 ENSG00000115694 STK25 STK25 . uc002wbl.3:c.*1198T>C . . . . 361 0.0055559 64976 344 0.00573467 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35606623 0.022 0.014 . . . . . . . . . . . . . . . . . . 0 0 . 0.005075 . . . . . 0.0010 0.0048 0.0022 0.0041 0 0.0061 0.0068 0.0053 0.0038 0.0007 0.0046 0.0024 0.0033 0 0.0046 0.0075 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs35606623 rs35606623 rs35606623 rs35606623 1 1538 10 1/0 0,255,255 +rs7425600 2 242946430 G A - LINC01237 49793 Long intergenic non-protein coding RNA 1237 NR_110220.1 1 576 0 substitution intron GRCh37 242946430 242946430 Chr2(GRCh37):g.242946430G>A 313+38232 313+38232 NR_110220.1:n.313+38232G>A p.? p.? 3 3 38232 5' 91.4889 X.58 0.990569 V.78 91.4889 X.58 0.990569 V.78 0 rs7425600 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93552 2766 18710 6492 7798 15592 35020 4484 2690 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 116 Exomes transition G A G>A 0.937 0.367 255 PASS . . . . . . . . . . . . BC101234:uc002wct.1:exon1:c.G431A:p.R144H . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . INTRON(MODIFIER||||LINC01237|Non-coding_transcript|NON_CODING|NR_110220|) . . . . . . . -0.3893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . @ . . . 0.4 0.25 182 ENSG00000233806 BC101234 LINC01237 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7425600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7425600 rs7425600 rs7425600 rs7425600 1 1538 10 1/0 0,255,255 +rs72997345 3 4735157 C T - ITPR1 6180 Inositol 1,4,5-triphosphate receptor, type 1 NM_001168272.1 1 10197 8232 NP_001161744.1 substitution intron GRCh37 4735157 4735157 Chr3(GRCh37):g.4735157C>T 3985-17 3985-17 NM_001168272.1:c.3985-17C>T p.? p.? 32 31 147265 -17 3' 83.485 8.18062 0.936221 9.65187 83.485 8.01707 0.965922 9.42644 0.00391056 rs72997345 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.001500 0.002000 0.000000 0.011900 0.011500 0.007117 0.001749 0.001743 0.000493 0.000000 0.003512 0.010994 0.011918 0.009142 0.011918 1969 42 60 5 0 108 1388 307 59 276658 24012 34414 10140 18870 30756 126252 25760 6454 0.000101 0.000000 0.000000 0.000000 0.000000 0.000130 0.000111 0.000311 0.000310 14 0 0 0 0 2 7 4 1 1941 42 60 5 0 104 1374 299 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8170 3747 11917 80 3 83 0.00969697 0.0008 0.00691667 0.00969697 0.0008 0.00691667 238 transition C T C>T 0.000 -1.328 255 PASS 0.002 0.01 0.02 . 0.02 0.0015 0.0048 0.011 . 0.012 0.002 . . . . . 0.556701 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . 0.0008 0.0069 0.0097 0.0008 0.0069 0.0097 . 0.1041 . . . . . . . . 7.794e-03 . . . 0.0015 0.0058 0.0026 0 0.0103 0.0087 0.0071 0.0043 0.0011 0.0077 0.0027 0 0.0118 0.0114 0.0044 0.0043 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.36 0.12 182 ENSG00000150995 ITPR1 ITPR1 . . . . . . 637 0.00980362 64976 613 0.0102191 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72997345 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.006917 . . . . . 0.0015 0.0071 0.0016 0.0005 0 0.0119 0.0112 0.0080 0.0035 0.0022 0.0072 0.0084 0 0 0.0123 0.0092 0.0153 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . rs72997345 rs72997345 rs72997345 1 1538 10 1/0 0,255,255 +rs147250678 3 8787514 C T - CAV3 1529 Caveolin 3 NM_001234.4 1 1335 456 NP_001225.1 P56539 substitution synonymous exon GRCh37 8787514 8787514 Chr3(GRCh37):g.8787514C>T 417 417 NM_001234.4:c.417C>T p.Val139= p.Val139Val 2 601253 -46 5' 80.5382 VI.52 0.698647 6.98674 80.5382 VI.52 0.698647 6.28288 0 Caveolin rs147250678 yes no Frequency 1 C uncertain_significance,likely_benign 0.000000 0 0.000369 0.000042 0.000174 0.002366 0.000000 0.000000 0.000530 0.000079 0.000310 0.002366 102 1 6 24 0 0 67 2 2 276336 24024 34414 10144 18862 30776 126376 25284 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102 1 6 24 0 0 67 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4406 12999 7 0 7 0.000813953 0 0.000538213 0.000813953 0 0.000538213 92 RCV000349095.1|RCV000029456.1|RCV000402310.1|RCV000226274.3|RCV000309463.1|RCV000399401.1|RCV000379233.1 germline|germline|germline|germline|germline|germline|germline|germline clinical testing|curation|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing VUS|Likely benign|VUS|Conflicting interpretations of pathogenicity|VUS|VUS|VUS 1|1|1|1|1|1|1 Caveolinopathy|Cardiomyopathy|Romano-Ward syndrome|Long QT syndrome|Hypertrophic cardiomyopathy|Limb-Girdle Muscular Dystrophy, Dominant|not specified transition C T C>T 0.992 0.205 V Val GTC 0.240 V Val GTT 0.178 139 255 PASS . . . . . . . . . . . . . . . . 0.5 . . germline 66 . . 1.2.2016 0 0 0 0 1 0 1 1 0 0 0 0 . . . . . . . . Likely//\@benign//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance Likely_benign|other|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000029456.1|RCV000226274.2|RCV000309463.1|RCV000349095.1|RCV000379233.1|RCV000399401.1|RCV000402310.1 . MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:Orphanet|MedGen|MedGen|MedGen:SNOMED_CT C0878544:ORPHA167848:85898001|C0023976:9651007|HP:0001639:C0007194:ORPHA217569|CN043575:ORPHA207078|CN169374|CN239426|CN119492:20852007 2 . . . 132.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.9622 . . . . . . . . 3.157e-04 . . . 0 0.0003 0.0002 0 0 0.0006 0 0 0 0.0003 0.0002 0 0 0.0005 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.24 182 ENSG00000182533 CAV3 CAV3 . . . . . . 12 0.000184684 64976 12 0.000200047 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs147250678 . . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNACC\x3dRCV000029456.1 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000029456.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0878544:85898001 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000029456.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0878544:85898001 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000029456.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0878544:85898001 . . . . . . . . . . . . . . . . Name\x3dnsv876514 0.000538 . . . . . 0 0.0004 0.0002 0.0023 0 4.589e-05 0.0005 0.0004 0 0.0001 0.0005 0 0.0033 0 0.0003 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs147250678 . 1 1538 10 1/0 0,253,255 +rs144799805 3 10016159 C T - EMC3 23999 ER membrane protein complex subunit 3 NM_018447.3 -1 2642 786 NP_060917.1 Q9P0I2 substitution synonymous exon GRCh37 10016159 10016159 Chr3(GRCh37):g.10016159C>T 321 321 NM_018447.3:c.321G>A p.Leu107= p.Leu107Leu 5 14 3' 82.461 9.63019 0.979876 6.71199 82.461 9.63019 0.983289 6.24664 0.00116103 Cryptic Acceptor Weakly Activated 10016154 2.97923 0.303065 79.5493 4.01798 0.318217 79.5493 Protein of unknown function DUF106, transmembrane Uncharacterised conserved protein UCP010045, transmembrane eukaryotic rs144799805 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004106 0.000749 0.001104 0.000197 0.000000 0.002632 0.004861 0.013982 0.003560 0.013982 1138 18 38 2 0 81 616 360 23 277156 24034 34408 10148 18868 30776 126714 25748 6460 0.000036 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000311 0.000000 5 0 0 0 0 1 0 4 0 1128 18 38 2 0 79 616 352 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8554 4405 12959 46 1 47 0.00534884 0.000226963 0.00361372 0.00534884 0.000226963 0.00361372 129 COSM308430 Kidney 0.000578 1729 transition G A G>A 0.976 -0.117 L Leu TTG 0.127 L Leu TTA 0.073 107 255 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0014 . 0.005 0.001 . . EMC3:NM_018447:exon4:c.G321A:p.L107L . . 0.6304348 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L107|EMC3|mRNA|CODING|NM_018447|NM_018447.ex.4) 0.0002 0.0036 0.0053 0.0002 0.0036 0.0053 . 1.1396 . . . . . . . . 4.159e-03 . . . 0.0005 0.0030 0.0008 0 0.0145 0.0039 0.0014 0.0023 0.0004 0.0041 0.0007 0 0.0142 0.0053 0.0029 0.0023 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.26 0.2 182 ENSG00000125037 EMC3 EMC3 . . . . . . 289 0.0044478 64976 282 0.0047011 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144799805 . . . . . . ID\x3dCOSM308430\x3bOCCURENCE\x3d1(kidney) . . . . . . . . . . . . . . . . 0.003614 . . . . . 0.0005 0.0040 0.0011 0.0002 0 0.0135 0.0049 0.0031 0.0026 0.0013 0.0046 0.0012 0 0 0.0172 0.0043 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144799805 rs144799805 1 1538 10 1/0 0,255,255 +rs183138323 3 10127689 G T - FANCD2 3585 Fanconi anemia complementation group D2 NM_033084.4 1 5246 4416 NP_149075.2 substitution intron GRCh37 10127689 10127689 Chr3(GRCh37):g.10127689G>T 3335+83 3335+83 NM_033084.4:c.3335+83G>T p.? p.? 33 33 613984 83 5' 95.6376 X.36 0.996255 III.81 95.6376 X.36 0.996255 III.81 0 Cryptic Acceptor Strongly Activated 10127701 5.83142 0.02159 78.9648 8.48393 0.122395 84.8344 rs183138323 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004588 0.001261 0.001193 0.000000 0.000000 0.000000 0.004401 0.016619 0.006110 0.016619 142 11 1 0 0 0 66 58 6 30952 8720 838 302 1622 0 14998 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 142 11 1 0 0 0 66 58 6 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion G T G>T 0.008 -0.037 243 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.29166666 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.1199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.5 0.13 182 . . . . . . . . . 283 0.00435545 64976 276 0.00460107 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183138323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0046 0.0012 0 0 0.0166 0.0044 0.0061 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . 0.01 . . rs183138323 rs183138323 1 1538 10 1/0 0,255,255 +rs183138323 3 10127689 G T - FANCD2OS 28623 FANCD2 opposite strand NM_001164839.1 -1 865 534 NP_001158311.1 Q96PS1 substitution downstream GRCh37 10127689 10127689 Chr3(GRCh37):g.10127689G>T *18236 *18236 NM_001164839.1:c.*18236C>A p.? p.? 2 18778 3' 85.2709 11.459 0.956729 XI.63 85.2709 11.459 0.956729 XI.63 0 rs183138323 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004588 0.001261 0.001193 0.000000 0.000000 0.000000 0.004401 0.016619 0.006110 0.016619 142 11 1 0 0 0 66 58 6 30952 8720 838 302 1622 0 14998 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 142 11 1 0 0 0 66 58 6 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C A C>A 0.008 -0.037 243 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.29166666 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.1199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.5 0.13 182 . . . . . . . . . 283 0.00435545 64976 276 0.00460107 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183138323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0046 0.0012 0 0 0.0166 0.0044 0.0061 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . 0.01 . . rs183138323 rs183138323 1 1538 10 1/0 0,255,255 +rs139684563 3 10334546 C T - GHRL 18129 Ghrelin/obestatin prepropeptide NM_001302821.1 -1 1101 354 NP_001289750.1 Q9UBU3 substitution 5'UTR GRCh37 10334546 10334546 Chr3(GRCh37):g.10334546C>T -537 -537 NM_001302821.1:c.-537G>A p.? p.? 1 605353 -21 5' 100 X.83 0.997836 X.09 100 X.83 0.997836 9.86165 0 rs139684563 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000800 0.002000 0.000000 0.002000 0.011500 0.003543 0.000980 0.002890 0.001173 0.000342 0.000709 0.006756 0.000844 0.003770 0.006756 640 16 70 10 4 16 489 17 18 180652 16322 24224 8526 11698 22578 72378 20152 4774 0.000022 0.000000 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000419 2 0 1 0 0 0 0 0 1 636 16 68 10 4 16 489 17 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3162 1384 4546 20 0 20 0.00628536 0 0.0043802 0.00628536 0 0.0043802 32 transition G A G>A 0.000 -0.279 253 PASS 0.002 0.0041 0.02 . 0.0013 0.0008 0.0026 0.011 . 0.002 0.002 . . . . . 0.31746033 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.137 . @ . . . . . 1 0.156 . . 63.0 . . . . 0.0044 0.0063 . 0.0044 0.0063 . -0.7733 -0.972 -0.773 c . . . . . 1.929e-03 . . . 0 0.0021 0.0025 0 0 0.0044 0.0053 0.0003 0 0.0011 0.0034 0 0 0.0030 0.0056 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.580 . . exonic exonic exonic . . 0.085 0.0026 . . . 0.61 0.51 182 ENSG00000157017 GHRL GHRL . . . 1.000 0.747 . 362 0.00557129 64976 349 0.00581802 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.180 . . 0.218 . . . . 0.196 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.965 . . 0 0 0 0 0 0 . 0.539 . . 0.366 . . . . . . 0 0.912 . . . . . 0.036 . 0.067 . HET 0 rs139684563 . . . . . . . 0.004120879120879121 0.0020325203252032522 0.019337016574585635 0.0 0.0013192612137203166 2.1885 0.0 . 3.III -1.38 . 0.000000 . . . . 0.004380 . 0.068 . . . 0.0009 0.0036 0.0028 0.0011 0.0004 0.0009 0.0072 0.0039 0.0007 0.0010 0.0032 0.0060 0.0033 0 0.0006 0.0052 0.0031 . . 0.301 . -0.078 -0.078000 . . 0.000000 . . 1.0E-253 0.006 0.172 . 0.168 0.000 . 0.201 . 0.118 -0.078 -1.044 0.02 . . rs139684563 rs139684563 1 1538 10 1/0 0,255,255 +rs139684563 3 10334546 C T - GHRLOS 33885 Ghrelin opposite strand/antisense RNA NR_073566.1 1 1948 0 substitution exon GRCh37 10334546 10334546 Chr3(GRCh37):g.10334546C>T 1361 1361 NR_073566.1:n.1361C>T 7 795 3' 95.6962 7.11231 0.983308 3.89931 95.6962 7.11231 0.983308 3.89931 0 Cryptic Acceptor Weakly Activated 10334555 2.87656 0.005589 72.8401 2.889 0.009079 75.552 rs139684563 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000800 0.002000 0.000000 0.002000 0.011500 0.003543 0.000980 0.002890 0.001173 0.000342 0.000709 0.006756 0.000844 0.003770 0.006756 640 16 70 10 4 16 489 17 18 180652 16322 24224 8526 11698 22578 72378 20152 4774 0.000022 0.000000 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000419 2 0 1 0 0 0 0 0 1 636 16 68 10 4 16 489 17 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3162 1384 4546 20 0 20 0.00628536 0 0.0043802 0.00628536 0 0.0043802 32 transition C T C>T 0.000 -0.279 253 PASS 0.002 0.0041 0.02 . 0.0013 0.0008 0.0026 0.011 . 0.002 0.002 . . . . . 0.31746033 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.137 . @ . . . . . 1 0.156 . . 63.0 . . . . 0.0044 0.0063 . 0.0044 0.0063 . -0.7733 -0.972 -0.773 c . . . . . 1.929e-03 . . . 0 0.0021 0.0025 0 0 0.0044 0.0053 0.0003 0 0.0011 0.0034 0 0 0.0030 0.0056 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.580 . . exonic exonic exonic . . 0.085 0.0026 . . . 0.61 0.51 182 ENSG00000157017 GHRL GHRL . . . 1.000 0.747 . 362 0.00557129 64976 349 0.00581802 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.180 . . 0.218 . . . . 0.196 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.965 . . 0 0 0 0 0 0 . 0.539 . . 0.366 . . . . . . 0 0.912 . . . . . 0.036 . 0.067 . HET 0 rs139684563 . . . . . . . 0.004120879120879121 0.0020325203252032522 0.019337016574585635 0.0 0.0013192612137203166 2.1885 0.0 . 3.III -1.38 . 0.000000 . . . . 0.004380 . 0.068 . . . 0.0009 0.0036 0.0028 0.0011 0.0004 0.0009 0.0072 0.0039 0.0007 0.0010 0.0032 0.0060 0.0033 0 0.0006 0.0052 0.0031 . . 0.301 . -0.078 -0.078000 . . 0.000000 . . 1.0E-253 0.006 0.172 . 0.168 0.000 . 0.201 . 0.118 -0.078 -1.044 0.02 . . rs139684563 rs139684563 1 1538 10 1/0 0,255,255 +. (chr3:11924613 AG/A) 3 11924613 AG A Not on a known gene +rs371377637 3 12598632 T C - MKRN2 7113 Makorin ring finger protein 2 NM_014160.4 1 2848 1251 NP_054879.3 Q9H000 substitution 5'UTR GRCh37 12598632 12598632 Chr3(GRCh37):g.12598632T>C -18 -18 NM_014160.4:c.-18T>C p.? p.? 1 608426 -44 5' 90.1175 8.94121 0.843093 XII.89 90.1175 8.94121 0.843093 XII.95 0 rs371377637 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.002300 0.002000 0.000000 0.006000 0.002900 0.004897 0.001557 0.002808 0.005217 0.000000 0.001051 0.009200 0.001608 0.004587 0.009200 646 17 55 38 0 20 479 20 17 131906 10918 19590 7284 6868 19034 52066 12440 3706 0.000091 0.000183 0.000102 0.000000 0.000000 0.000000 0.000115 0.000000 0.000540 6 1 1 0 0 0 3 0 1 634 15 53 38 0 20 473 20 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7676 3950 11626 38 4 42 0.00492611 0.00101163 0.00359959 0.00492611 0.00101163 0.00359959 13 transition T C T>C 0.000 0.609 255 PASS . . . . . 0.0023 0.0026 0.0029 . 0.006 0.002 . . . . . 0.5058824 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . 0.001 0.0036 0.0049 0.001 0.0036 0.0049 . 0.8686 . . . . . . . . 1.704e-03 . . . 0.0017 0.0042 0 0 0 0.0108 0.0077 0.0013 0.0018 0.0036 0 0 0 0.0096 0.0083 0.0013 . . . . . . UTR5 UTR5 UTR5 . . . 0.0026 . . . 0.43 0.42 182 ENSG00000075975 MKRN2 MKRN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371377637 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.003600 . . . . II.31 0.0022 0.0044 0.0026 0.0053 0 0.0017 0.0082 0.0044 0.0011 0.0014 0.0066 0.0072 0.0033 0 0.0014 0.0118 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs371377637 rs371377637 1 1538 10 1/0 0,255,255 +rs201139246 3 12944239 G A - IQSEC1 29112 IQ motif and Sec7 domain 1 NM_014869.6 -1 5486 2892 NP_055684.3 Q6DN90 substitution intron GRCh37 12944239 12944239 Chr3(GRCh37):g.12944239G>A 2847+34 2847+34 NM_014869.6:c.2847+34C>T p.? p.? 13 13 610166 34 5' 84.8093 9.81513 0.990062 7.30539 84.8093 9.81513 0.990062 7.25619 0 rs201139246 yes no Frequency 1 0.000000 0 0.000171 0.000000 0.000000 0.000000 0.000000 0.000000 0.000311 0.000317 0.000000 0.000317 47 0 0 0 0 0 39 8 0 274660 23690 34310 10120 18806 30606 125490 25242 6396 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 1 0 0 0 0 0 0 1 0 45 0 0 0 0 0 39 6 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 72 transition C T C>T 0.961 0.932 255 PASS . . . . . . . . . . . . . . . . 0.5641026 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.04 . . . . . . . . 1.973e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0002 0 0 0.0003 0.0003 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.39 182 ENSG00000144711 IQSEC1 IQSEC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201139246 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . II.64 0 0.0002 0 0 0 0.0003 0.0003 0 0 0 0.0002 0 0 0 0.0003 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs201139246 rs201139246 1 1538 10 1/0 0,255,255 +rs79958555 3 14173930 C T - TMEM43 28472 Transmembrane protein 43 NM_024334.2 1 3342 1203 NP_077310.1 Q9BTV4 substitution intron GRCh37 14173930 14173930 Chr3(GRCh37):g.14173930C>T 393-116 393-116 NM_024334.2:c.393-116C>T p.? p.? 5 4 612048 -116 3' 93.041 XI.66 0.972508 7.36173 93.041 XI.66 0.972508 7.36173 0 rs79958555 yes no Frequency/1000G 2 C 0.000000 0 0.015375 0.055200 0.000000 0.000000 0.000000 0.005800 0.009832 0.034328 0.000000 0.000000 0.000000 0.000000 0.000134 0.000000 0.003055 0.034328 304 299 0 0 0 0 2 0 3 30920 8710 838 302 1622 0 14978 3488 982 0.013158 0.013378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 4 0 0 0 0 0 0 0 296 291 0 0 0 0 2 0 3 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 -1.409 255 PASS 0.04 0.01 0.01 . . 0.055 0.015 0.0058 . . . . . . . . 0.3809524 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . INTRON(MODIFIER||||TMEM43|mRNA|CODING|NM_024334|) . . . . . . . -0.2861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0154 . . . 0.18 0.12 182 ENSG00000170876 TMEM43 TMEM43 . . . . . . 85 0.00130818 64976 8 0.000133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79958555 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0343 0.0098 0 0 0 0 0.0001 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 . . rs79958555 rs79958555 1 1538 10 1/0 0,248,255 +. 3 14444308 CT C - SLC6A6 11052 Solute carrier family 6 (neurotransmitter transporter), member 6 NM_003043.5 1 6538 1863 NP_003034.2 P31641 deletion 5'UTR GRCh37 14444309 14444309 Chr3(GRCh37):g.14444309del -100 -100 NM_003043.5:c.-100del p.? p.? 1 186854 -47 5' 71.4999 10.0514 0.812339 XI.15 71.4999 10.0514 0.812339 11.606 0 rs68047955 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999966 0.999884 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 29319 8647 782 224 1622 0 13682 3464 898 29320 8648 782 224 1622 0 13682 3464 898 0.499983 0.499942 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 14659 4323 391 112 811 0 6841 1732 449 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes T 255 Pass 0.99 0.99 0.99 0.99 0.99 1. 1. 1. 1. 1. 1. . . . . . 0.9183673 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 splicing . . . . . . . . . . ENSG00000131389 SLC6A6 SLC6A6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs68047955 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.99 . rs68047955 rs68047955 rs68047955 1 1538 10 1.I 0,109,255 +. 3 14509887 C CA - SLC6A6 11052 Solute carrier family 6 (neurotransmitter transporter), member 6 NM_003043.5 1 6538 1863 NP_003034.2 P31641 duplication intron GRCh37 14509890 14509891 Chr3(GRCh37):g.14509890dup 1096+170 1096+170 NM_003043.5:c.1096+170dup p.? p.? 9 9 186854 170 5' 84.1959 X.66 0.935915 4.32387 84.1959 X.66 0.935915 4.32387 0 rs55719538 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999967 1.000000 1.000000 1.000000 1.000000 0.000000 0.999931 1.000000 1.000000 1.000000 29961 8404 820 278 1590 0 14463 3470 936 29962 8404 820 278 1590 0 14464 3470 936 0.499983 0.500000 0.500000 0.500000 0.500000 0.000000 0.499965 0.500000 0.500000 14980 4202 410 139 795 0 7231 1735 468 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 31 Genomes A 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.88235295 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000131389 SLC6A6 SLC6A6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397790292 0.098 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs55719538 rs55719538 1 1538 10 1.I 0,5,5 +rs187677971 3 14952662 T G - FGD5 19117 FYVE, RhoGEF and PH domain containing 5 NM_152536.3 1 5897 4389 NP_689749.3 Q6ZNL6 substitution intron GRCh37 14952662 14952662 Chr3(GRCh37):g.14952662T>G 3405+226 3405+226 NM_152536.3:c.3405+226T>G p.? p.? 11 11 614788 226 5' 91.4889 X.58 0.994647 X.56 91.4889 X.58 0.994647 X.56 0 Cryptic Donor Strongly Activated 14952657 0.009447 61.8569 4.89859 0.76679 74.2497 rs187677971 yes no Frequency/1000G 2 T 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.006000 0.005800 0.002488 0.000689 0.001193 0.003311 0.000000 0.000000 0.004268 0.000286 0.004073 0.004268 77 6 1 1 0 0 64 1 4 30948 8714 838 302 1622 0 14996 3494 982 0.012987 0.000000 0.000000 0.000000 0.000000 0.000000 0.015625 0.000000 0.000000 1 0 0 0 0 0 1 0 0 75 6 1 1 0 0 62 1 4 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T G T>G 0.000 -0.360 255 PASS . 0.0023 0.01 . 0.004 . 0.002 0.0058 . 0.006 . . . . . . 0.5625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||FGD5|mRNA|CODING|NM_152536|) . . . . . . . -0.0915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.26 0.31 182 ENSG00000154783 FGD5 FGD5 . . . . . . 191 0.00293955 64976 181 0.00301737 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187677971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0025 0.0012 0.0033 0 0.0003 0.0043 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187677971 rs187677971 1 1538 10 1/0 0,255,255 +rs147070802 3 15515683 C T - COLQ 2226 Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase NM_005677.3 -1 3005 1368 NP_005668.2 Q9Y215 substitution intron GRCh37 15515683 15515683 Chr3(GRCh37):g.15515683C>T 600+52 600+52 NM_005677.3:c.600+52G>A p.? p.? 9 9 603033 52 5' 82.2818 8.99306 0.93185 3.63673 82.2818 8.99306 0.93185 3.49345 0 rs147070802 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.002000 0.000000 0.013900 0.011500 0.008679 0.001707 0.003722 0.004041 0.000000 0.003736 0.012213 0.018575 0.008359 0.018575 2404 41 128 41 0 115 1546 479 54 276994 24014 34392 10146 18832 30780 126582 25788 6460 0.000108 0.000000 0.000000 0.000000 0.000000 0.000000 0.000205 0.000078 0.000310 15 0 0 0 0 0 13 1 1 2374 41 128 41 0 115 1520 477 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7082 3131 10213 82 5 87 0.0114461 0.00159439 0.0084466 0.0114461 0.00159439 0.0084466 100 transition G A G>A 0.000 -0.360 255 PASS 0.0041 0.01 0.02 0.0017 0.02 . 0.0048 0.011 . 0.014 0.002 . . . . . 0.5294118 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0016 0.0084 0.011 0.0016 0.0084 0.011 . 0.1015 . . . . . . . . 8.737e-03 . . . 0.0016 0.0073 0.0024 0 0.0187 0.0114 0.0070 0.0038 0.0016 0.0081 0.0022 0 0.0185 0.0115 0.0072 0.0038 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.09 0.15 182 ENSG00000206561 COLQ COLQ . . . . . . 716 0.0110195 64976 692 0.011536 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147070802 . . . . . . . . . . . . . . . . . . . . 0.0001 0.006 . 0.008447 . . . . . 0.0016 0.0086 0.0037 0.0041 0 0.0184 0.0121 0.0082 0.0037 0.0019 0.0097 0.0036 0.0033 0 0.0195 0.0134 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs147070802 rs147070802 1 1538 10 1/0 0,255,255 +rs144961978 3 15529505 T C - COLQ 2226 Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase NM_005677.3 -1 3005 1368 NP_005668.2 Q9Y215 substitution intron GRCh37 15529505 15529505 Chr3(GRCh37):g.15529505T>C 321+208 321+208 NM_005677.3:c.321+208A>G p.? p.? 3 3 603033 208 5' 80.0438 8.07704 0.595514 5.70777 80.0438 8.07704 0.595514 5.70777 0 rs144961978 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.000000 0.002000 0.000000 0.014900 0.002900 0.009078 0.003093 0.008353 0.043046 0.000617 0.000000 0.013342 0.006869 0.009184 0.043046 281 27 7 13 1 0 200 24 9 30954 8728 838 302 1622 0 14990 3494 980 0.003559 0.000000 0.000000 0.076923 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 279 27 7 11 1 0 200 24 9 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -1.570 227 PASS . 0.0027 0.0028 . 0.01 . 0.0038 0.0029 . 0.015 0.002 . . . . . 0.2413793 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.0003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0038 . . . 0.17 0.17 182 ENSG00000206561 COLQ COLQ . . . . . . 906 0.0139436 64976 887 0.0147868 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144961978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0091 0.0084 0.0430 0.0006 0.0069 0.0133 0.0092 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . 0.01 . . rs144961978 rs144961978 1 1538 10 1/0 0,255,255 +rs145388314 3 15686008 C T - BTD 1122 Biotinidase NM_001281723.2 1 4157 1638 NP_001268652.1 substitution synonymous exon GRCh37 15686008 15686008 Chr3(GRCh37):g.15686008C>T 651 651 NM_001281723.2:c.651C>T p.Leu217= p.Leu217Leu 4 609019 186 3' 93.2147 12.565 0.996332 13.5909 93.2147 12.565 0.996332 13.5909 0 Carbon-nitrogen hydrolase Biotinidase, eukaryotic rs145388314 yes no Frequency/1000G 2 C benign 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.008000 0.000000 0.007752 0.001539 0.003632 0.033399 0.000053 0.000552 0.010740 0.008219 0.008815 0.033399 2149 37 125 339 1 17 1361 212 57 277228 24034 34420 10150 18864 30782 126718 25794 6466 0.000094 0.000000 0.000000 0.000985 0.000000 0.000000 0.000110 0.000078 0.000000 13 0 0 5 0 0 7 1 0 2123 37 125 329 1 17 1347 210 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8512 4397 12909 88 9 97 0.0102326 0.00204267 0.0074581 0.0102326 0.00204267 0.0074581 221 RCV000078078.5|RCV000021954.2 germline|germline|not provided|germline clinical testing|clinical testing|clinical testing|clinical testing Benign|Conflicting interpretations of pathogenicity 2|1 not specified|Biotinidase deficiency transition C T C>T 0.961 -0.198 L Leu CTC 0.197 L Leu CTT 0.129 217 255 PASS . 0.0014 . . 0.004 . 0.0016 . . 0.008 . . . . . . 0.4631579 . . germline 44 . . 1.2.2016 0 0 0 0 1 0 1 1 1 0 0 0 . . . . . . . . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign other|Benign RCV000021954.2|RCV000078078.4 Biotinidase_deficiency|not_specified MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0220754:253260:ORPHA79241:8808004|CN169374 2 . . . 95.0 . . . 0.002 0.0075 0.01 0.002 0.0075 0.01 . 0.5458 . . . . . . . . 7.727e-03 . . . 0.0012 0.0070 0.0024 0 0.0071 0.0132 0.0042 0.0007 0.0013 0.0075 0.0021 0 0.0065 0.0130 0.0058 0.0007 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.24 0.4 182 ENSG00000169814 BTD BTD . . . . . . 528 0.00812608 64976 520 0.00866869 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs145388314 . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dBiotinidase_deficiency\x3bCLNACC\x3dRCV000021954.1 CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dBiotinidase_deficiency|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000021954.1|RCV000078078.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.\x3bCLNDSDBID\x3dNBK1322:C0220754:253260:ORPHA79241:8808004|. CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dBiotinidase_deficiency|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000021954.1|RCV000078078.3\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1322:C0220754:253260:ORPHA79241:8808004|CN169374 CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dBiotinidase_deficiency|not_specified\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000021954.1|RCV000078078.3\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1322:C0220754:253260:ORPHA79241:8808004|CN169374 . . . . . . . . . . . . . . . . . 0.007458 . . . . . 0.0016 0.0080 0.0036 0.0331 0 0.0084 0.0112 0.0095 0.0006 0.0015 0.0056 0.0048 0.0430 0.0006 0.0069 0.0077 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145388314 rs145388314 1 1538 10 1/0 0,255,255 +rs368311767 3 25651117 C T - TOP2B 11990 Topoisomerase (DNA) II beta NM_001068.3 -1 5343 4866 NP_001059.2 substitution synonymous exon GRCh37 25651117 25651117 Chr3(GRCh37):g.25651117C>T 3858 3858 NM_001068.3:c.3858G>A p.Leu1286= p.Leu1286Leu 29 126431 -59 5' 81.7977 7.53822 0.953594 0 81.7977 7.53822 0.953594 0 0 rs368311767 yes no Frequency 1 C 0.000000 0 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000011 0.000000 0.000215 0.000011 2 0 0 0 0 0 1 0 1 204932 13152 27948 8718 14738 24134 90970 20628 4644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 44 Exomes 8187 3728 11915 1 0 1 0.00012213 0 8.39208e-05 0.00012213 0 8.39208e-05 61 transition G A G>A 0.362 1.900 L Leu TTG 0.127 L Leu TTA 0.073 1286 255 PASS . . . . . . . . . . . . . TOP2B:NM_001068:exon29:c.G3858A:p.L1286L . . 0.36708862 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L1286|TOP2B|mRNA|CODING|NM_001068|NM_001068.ex.29) . 0.0001 0.0001 . 0.0001 0.0001 . 1.0360 . . . . . . . . 1.604e-05 . . . 0 4.708e-05 0 0 0 0.0001 0 0 0 2.354e-05 0 0 0 5.261e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.65 0.47 182 ENSG00000077097 TOP2B TOP2B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368311767 . . . . . . . . . . . . . . . . . . . . . . . 0.000084 . . . . V.72 0 9.759e-06 0 0 0 0 1.099e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs368311767 rs368311767 1 1538 10 1/0 0,255,255 +rs142286195 3 28566038 A G - ZCWPW2 23574 Zinc finger CW-type and PWWP domain containing 2 NM_001040432.3 1 2937 1071 NP_001035522.1 Q504Y3 substitution synonymous exon GRCh37 28566038 28566038 Chr3(GRCh37):g.28566038A>G 930 930 NM_001040432.3:c.930A>G p.Glu310= p.Glu310Glu 10 21 3' 86.7851 7.45506 0.832667 II.26 86.7851 7.45506 0.832667 2.24926 0 rs142286195 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000609 0.000169 0.000412 0.000000 0.000000 0.000000 0.001128 0.000156 0.000322 0.001128 163 4 13 0 0 0 140 4 2 267666 23610 31522 9978 18340 28172 124154 25684 6206 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 163 4 13 0 0 0 140 4 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4403 12989 10 1 11 0.00116333 0.000227066 0.000846154 0.00116333 0.000227066 0.000846154 131 transition A G A>G 0.378 1.739 E Glu GAA 0.417 E Glu GAG 0.583 310 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . ZCWPW2:NM_001040432:exon10:c.A930G:p.E310E . . 0.33333334 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 27.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E310|ZCWPW2|mRNA|CODING|NM_001040432|NM_001040432.ex.10) 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . 0.0225 . . . . . . . . 6.393e-04 . . . 9.864e-05 0.0005 0.0003 0 0.0003 0.0009 0 0 0.0001 0.0006 0.0003 0 0.0005 0.0011 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.49 0.4 182 ENSG00000206559 ZCWPW2 ZCWPW2 . . . . . . 51 0.000784905 64976 50 0.000833528 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142286195 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 X.81 2.68E-4 ENST00000419130 6.III IV.81 . . . . . . 0.000846 . . . . IV.81 6.722e-05 0.0006 0.0004 0 0 0.0002 0.0011 0.0004 0 0.0003 0.0008 0 0 0 0 0.0014 0 . . . . 2.302 2.302000 . . . . . 1.0E-255 . . . . . . . . . 2.302 . 0.0013 . . rs142286195 rs142286195 1 1538 10 1/0 0,255,255 +rs186544854 3 33194431 C A - SUSD5 29061 Sushi domain containing 5 NM_015551.1 -1 5005 1890 NP_056366.1 O60279 substitution missense exon GRCh37 33194431 33194431 Chr3(GRCh37):g.33194431C>A 1693 1693 NM_015551.1:c.1693G>T p.Asp565Tyr p.Asp565Tyr 5 1095 3' 93.3337 13.3546 0.99246 11.695 93.3337 13.3546 0.99246 11.695 0 New Donor Site 33194433 6.1277 0.484015 72.1805 rs186544854 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.001972 0.000333 0.000756 0.004241 0.000000 0.000065 0.003535 0.000466 0.001239 0.004241 546 8 26 43 0 2 447 12 8 276894 24022 34408 10140 18854 30770 126466 25778 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 544 8 26 43 0 2 445 12 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4393 12942 29 1 30 0.00338074 0.000227583 0.00231267 0.00338074 0.000227583 0.00231267 60 transversion G T G>T 0.913 1.900 D Asp GAC 0.539 Y Tyr TAC 0.562 565 11 6 Cat -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 231.75 70.26 Deleterious 0.02 III.39 good 4.917E-2 0.1124 255 PASS . 0.0023 0.01 . 0.0026 . 0.001 0.0043 . 0.002 . ENSG00000173705:ENST00000309558:exon5:c.G1693T:p.D565Y SUSD5:uc003cfo.1:exon5:c.G1693T:p.D565Y SUSD5:NM_015551:exon5:c.G1693T:p.D565Y . . 0.352459 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.545 . @ . . . . . 1 0.147 . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D565Y|SUSD5|mRNA|CODING|NM_015551|NM_015551.ex.5) 0.0002 0.0023 0.0034 0.0002 0.0023 0.0034 . -0.0290 -0.061 -0.029 c . . . . . 1.968e-03 . . . 0.0003 0.0018 0.0005 0 0.0003 0.0035 0.0014 6.074e-05 0.0004 0.0017 0.0005 0 0.0008 0.0031 0 6.108e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.455 0.0010 . . . 0.29 0.32 182 ENSG00000173705 SUSD5 SUSD5 . . . 1.000 0.439 . 112 0.00172371 64976 107 0.00178375 59986 Uncertain_significance . 0 . 0.244 . . . . T 0.325 0.013 . . 37 . 0.105 . . 0.171 . . . 0.526 0.338 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.767 . . 0 0 0 0 0 0 . 0.423 . . 0.371 . . . . . . 0 0.506 . . . . . 0.378 . 0.483 . HET 0.01 rs186544854 . . . . . . . 0.0022893772893772895 0.0 0.008287292817679558 0.0 0.002638522427440633 IX.56 2.68E-4 ENST00000309558 5.VIII 4.0 . 0.030000 O60279 . . . 0.002313 . 0.617 . . 4 0.0002 0.0019 0.0008 0.0044 0 0.0004 0.0035 0.0009 6.5e-05 0.0006 0.0022 0 0 0 0.0006 0.0039 0.0031 . . 0.730 . 0.785 0.785000 . . 0.030000 . . 1.0E-255 0.998 0.411 . 0.062 0.025 . 0.484 . 0.445 0.785 0.871 0.01 . . rs186544854 rs186544854 1 1538 10 1/0 0,241,255 +rs61751640 3 33467112 G A - UBP1 12507 Upstream binding protein 1 (LBP-1a) NM_001128161.1 -1 3767 1623 NP_001121633.1 Q9NZI7 substitution missense exon GRCh37 33467112 33467112 Chr3(GRCh37):g.33467112G>A 235 235 NM_001128161.1:c.235C>T p.His79Tyr p.His79Tyr 3 609784 -31 5' 89.8177 8.54173 0.993336 0 89.8177 8.54173 0.993336 0 0 Cryptic Donor Strongly Activated 33467114 56.8914 1.14354 0.043334 62.6615 CP2 transcription factor rs61751640 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.006000 0.001400 0.006478 0.002047 0.001115 0.000988 0.000000 0.000752 0.010669 0.011026 0.005600 0.011026 1789 49 38 10 0 23 1349 284 36 276180 23934 34084 10120 18824 30596 126436 25758 6428 0.000087 0.000000 0.000000 0.000000 0.000000 0.000065 0.000158 0.000078 0.000000 12 0 0 0 0 1 10 1 0 1765 49 38 10 0 21 1329 282 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8511 4395 12906 89 11 100 0.0103488 0.0024966 0.00768876 0.0103488 0.0024966 0.00768876 77 transition C T C>T 1.000 4.483 H His CAT 0.413 Y Tyr TAT 0.438 79 14 11 Tetraodon 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 142.23 0.00 Tolerated 0.23 III.58 good 8.29E-1 0.02293 255 PASS . 0.0037 0.0028 . 0.01 . 0.0016 0.0014 . 0.006 0.001 . . . . . 0.627451 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.418 . @ . . . . . 1 0.567 . . 51.0 . . . 0.0025 0.0077 0.01 0.0025 0.0077 0.01 . 0.1704 0.373 0.170 c . . . . . 6.811e-03 . . . 0.0023 0.0051 0.0014 0 0.0132 0.0084 0.0074 0.0008 0.0020 0.0069 0.0014 0 0.0118 0.0111 0.0077 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.179 . . exonic exonic exonic . . 0.955 0.0016 . . . 0.44 0.32 182 ENSG00000153560 UBP1 UBP1 . . . 1.000 0.747 . 541 0.00832615 64976 533 0.00888541 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.132 . . 0.017 . . . 0.345 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.753 . . 0 0 0 0 0 0 . 0.131 . . 0.237 . . . . . . 0 0.393 . . . . . 0.634 . 0.299 . HET 0.05 rs61751640 . . . . . . . 0.003663003663003663 0.0 0.0027624309392265192 0.0 0.009234828496042216 13.9369 0.00214 . V.92 V.92 . 0.050000 . . . Name\x3ddgv1445e1 0.007689 . 0.709 . . V.92 0.0021 0.0064 0.0011 0.0010 0 0.0108 0.0108 0.0051 0.0008 0.0019 0.0069 0 0 0 0.0123 0.0097 0.0081 . . 0.830 . 2.810 2.810000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 0.924 . 0.749 . 0.613 2.810 0.917 0.01 rs61751640 rs61751640 rs61751640 rs61751640 1 1538 10 1/0 0,255,255 +rs572516072 3 36986349 G T - TRANK1 29011 Tetratricopeptide repeat and ankyrin repeat containing 1 NM_001329998.1 -1 10616 8910 NP_001316927.1 substitution 5'UTR GRCh37 36986349 36986349 Chr3(GRCh37):g.36986349G>T -49 -49 NM_001329998.1:c.-49C>A p.? p.? 1 -72 5' 80.7243 6.60222 0.985701 7.14527 80.7243 6.60222 0.985701 6.93033 0 rs572516072 yes no Frequency/1000G 2 G 0.003594 T 18 0.003594 0.000800 0.000000 0.000000 0.012900 0.005800 0.007777 0.003204 0.004842 0.015363 0.000000 0.005290 0.011216 0.002719 0.010327 0.015363 612 30 43 66 0 58 373 18 24 78690 9362 8880 4296 2988 10964 33256 6620 2324 0.000051 0.000000 0.000225 0.000000 0.000000 0.000182 0.000000 0.000000 0.000000 2 0 1 0 0 1 0 0 0 608 30 41 66 0 56 373 18 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.402 1.255 255 PASS . . . . . 0.0008 0.0036 0.0058 . 0.013 . . . . . . 0.3888889 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . UTR_5_PRIME(MODIFIER||||TRANK1|mRNA|CODING|NM_014831|NM_014831.ex.1) . . . . . . . 0.6542 . . . . . . . . 5.010e-03 . . . 0 0.0072 0 0 . 0.0172 0.0143 0.0044 0 0.0071 0 0 . 0.0173 0.0143 0.0044 . . . . . . UTR5 UTR5 UTR5 . . . 0.0036 . . . . . . ENSG00000168016 TRANK1 TRANK1 . uc003cgj.3:c.-49C>A NM_014831:c.-49C>A . . . 622 0.00957277 64976 603 0.0100523 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs572516072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0030 0.0090 0.0046 0.0153 0 0.0029 0.0135 0.0119 0.0053 0.0032 0.0059 0.0072 0.0166 0 0.0026 0.0085 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 3 37560577 CT C - ITGA9 6145 Integrin, alpha 9 NM_002207.2 1 3962 3108 NP_002198.2 Q13797 deletion intron GRCh37 37560594 37560594 Chr3(GRCh37):g.37560594del 1142-157 1142-157 NM_002207.2:c.1142-157del p.? p.? 11 10 603963 -157 3' 91.0663 9.48299 0.975075 8.39776 91.0663 9.48299 0.975075 8.39776 0 rs879137747 no no 0 T 0.000000 0 0.004557 0.003899 0.010823 0.008547 0.001295 0.000000 0.003087 0.032110 0.003268 0.032110 104 29 5 2 2 0 36 28 2 22822 7438 462 234 1544 0 11660 872 612 0.009615 0.034483 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 8 4 0 0 1 0 1 1 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.36666667 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 30 . . INTRON(MODIFIER||||ITGA9|mRNA|CODING|NM_002207|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000144668 ITGA9 ITGA9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0039 0.0046 0.0108 0.0085 0.0013 0.0321 0.0031 0.0033 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,44 +rs762109737 3 38153757 T C - DLEC1 2899 Deleted in lung and esophageal cancer 1 NM_007337.3 1 5494 5337 NP_031363.2 substitution missense exon GRCh37 38153757 38153757 Chr3(GRCh37):g.38153757T>C 3571 3571 NM_007337.3:c.3571T>C p.Ser1191Pro p.Ser1191Pro 25 604050 57 3' 85.5235 5.32117 0.738072 I.08 85.5235 5.32117 0.738072 1.81493 0 rs762109737 yes no Frequency 1 T 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000032 0.000018 0.000000 0.000000 0.000032 3 0 0 0 0 1 2 0 0 246252 15292 33582 9850 17248 30782 111718 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transition T C T>C 0.008 0.286 S Ser TCC 0.220 P Pro CCC 0.328 1191 12 9 Frog -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 244.26 I.62 Deleterious 0.04 III.15 255 PASS . . . . . . . . . . . . . . . . 0.37190083 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.851 . . 121.0 . . . . . . . . . . -0.4258 -0.413 -0.426 c . . . . . 1.594e-05 . . . 0 2.22e-05 0 0 0 2.374e-05 0 6.06e-05 0 1.894e-05 0 0 0 1.84e-05 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.390 @ . . . . . . ENSG00000008226 DLEC1 DLEC1 . . . 0.997 0.354 . . . . . . . Uncertain_significance . 0 . 0.234 . . . . T 0.310 0.012 . . 37 . 0.071 . . 0.243 . . . 0.698 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.582 . . 0 0 0 0 0 0 . 0.311 . . 0.270 . . . . . . 0 0.254 . . . . . 0.186 . 0.635 . HET 0.15 rs762109737 . . . . . . . . . . . . V.78 . . IV.74 3.V . 0.290000 . . . . . . 0.138 . . 3.V 0 1.218e-05 0 0 0 0 1.79e-05 0 3.249e-05 . . . . . . . . . . 0.372 . 1.787 1.787000 . . 0.290000 . . 1.0E-255 0.001 0.137 . 0.276 0.271 . 0.208 . 0.159 1.787 0.991 . . . . . 1 1538 10 1/0 0,244,255 +rs188080038 3 38271827 A G - OXSR1 8508 Oxidative-stress responsive 1 NM_005109.2 1 4523 1584 NP_005100.1 O95747 substitution intron GRCh37 38271827 38271827 Chr3(GRCh37):g.38271827A>G 886-29 886-29 NM_005109.2:c.886-29A>G p.? p.? 10 9 604046 -29 3' 91.3481 9.18567 0.981635 VI.54 91.3481 9.18567 0.981635 6.40813 0 New Acceptor Site 38271828 3.22146 0.002255 72.9666 38271827 -64.6952 rs188080038 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.001755 0.000255 0.000545 0.000210 0.000000 0.001346 0.002896 0.001329 0.001647 0.002896 457 6 16 2 0 36 353 34 10 260426 23566 29378 9508 17700 26752 121878 25574 6070 0.000008 0.000000 0.000000 0.000000 0.000000 0.000075 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 455 6 16 2 0 34 353 34 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4389 12931 22 3 25 0.00256889 0.00068306 0.00192961 0.00256889 0.00068306 0.00192961 38 transition A G A>G 0.000 1.093 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.001 0.001 . . . . . 0.5294118 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . INTRON(MODIFIER||||OXSR1|mRNA|CODING|NM_005109|) 0.0007 0.0019 0.0026 0.0007 0.0019 0.0026 . 0.2677 . . . . . . . . 1.974e-03 . . . 0.0003 0.0017 0.0004 0 0.0011 0.0028 0 0.0013 0.0002 0.0020 0.0005 0 0.0014 0.0032 0 0.0013 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.48 0.13 182 ENSG00000172939 OXSR1 OXSR1 . . . . . . 137 0.00210847 64976 135 0.00225053 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188080038 . . . . . . . . . . . . . . . . . . . . . . . 0.001930 . . . . II.79 0.0003 0.0018 0.0006 0.0002 0 0.0012 0.0029 0.0020 0.0013 0.0002 0.0015 0 0 0 0.0020 0.0025 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs188080038 rs188080038 1 1538 10 1/0 0,255,255 +rs144370188 3 38524728 C G - ACVR2B 174 Activin A receptor, type IIB NM_001106.3 1 11373 1539 NP_001097.2 Q13705 substitution missense exon GRCh37 38524728 38524728 Chr3(GRCh37):g.38524728C>G 1444 1444 NM_001106.3:c.1444C>G p.Arg482Gly p.Arg482Gly 11 602730 100 3' 75.1337 5.70311 0.771481 9.48609 75.1337 5.70311 0.771481 9.48609 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000182 0.000000 1 0 0 0 0 0 0 0 1 246266 15304 33582 9850 17248 30782 111714 22300 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 119 Exomes transversion C G C>G 1.000 1.093 R Arg CGG 0.207 G Gly GGG 0.250 482 14 10 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 247.86 0.00 Tolerated 0.17 III.63 good 4.007E-1 0.3242 255 PASS . . . . . . . . . . . ENSG00000114739:ENST00000352511:exon11:c.C1444G:p.R482G . ACVR2B:NM_001106:exon11:c.C1444G:p.R482G . . 0.42982456 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.306 . @ . . . . . 1 0.472 . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R482G|ACVR2B|mRNA|CODING|NM_001106|NM_001106.ex.11) . . . . . . . -0.3235 -0.150 -0.324 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.841 . . exonic exonic exonic . . 0.368 0.0002 . . . 0.21 0.23 182 ENSG00000114739 ACVR2B ACVR2B . . . 1.000 0.408 . . . . . . . Uncertain_significance . 0 . 0.332 . . . . T 0.477 0.025 . . 37 . 0.735 . . 0.642 . . . 0.469 0.482 . . . . 0 1 0 0 0 0 0 1 0 0 0 0.295 . . 0 0 0 0 0 0 . 0.119 . . 0.063 . . . . . . 0 0.177 . . . . . 0.628 . 0.590 . HET 0.12 . . . . . . . . . . . . . 13.8508 . ENST00000352511 V.17 3.III . 0.360000 Q13705 . . . . . 0.556 . . 3.III 0 4.061e-06 0 0 0 0 0 0.0002 0 . . . . . . . . . . 0.730 . 0.681 0.681000 . . 0.360000 . . 1.0E-255 1.000 0.715 . 0.697 0.951 . 0.466 . 0.107 0.681 -0.639 . . . . . 1 1538 10 1/0 0,250,255 +rs141686175 3 38913706 A G - SCN11A 10583 Sodium voltage-gated channel alpha subunit 11 NM_001349253.1 -1 6789 5376 NP_001336182.1 Q9UI33 substitution missense exon GRCh37 38913706 38913706 Chr3(GRCh37):g.38913706A>G 3473 3473 NM_001349253.1:c.3473T>C p.Leu1158Pro p.Leu1158Pro 24 604385 -23 5' 76.7565 VII.57 0.926245 4.60154 76.7565 VII.57 0.926245 4.90074 0 rs141686175 yes no Frequency/1000G 2 A uncertain_significance,pathogenic 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000488 0.000083 0.000058 0.000000 0.000000 0.000000 0.000690 0.001629 0.000310 0.001629 135 2 2 0 0 0 87 42 2 276460 24012 34340 10128 18850 30720 126174 25780 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 135 2 2 0 0 0 87 42 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 160 RCV000282888.1|RCV000144934.4 germline|germline clinical testing|literature only VUS|Pathogenic 1|0 not specified|Episodic pain syndrome, familial, 3 CM145673 Painful peripheral neuropathy 24776970 DM transition T C T>C 1.000 4.725 L Leu CTG 0.404 P Pro CCG 0.115 1158 12 11 Chicken -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C45 14.30 86.59 Deleterious 0 III.44 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . SCN11A:uc021wvy.1:exon20:c.T3473C:p.L1158P . . . 0.45238096 . . germline 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.807 . Pathogenic//\%//\@Uncertain//\@significance Pathogenic|Uncertain_significance RCV000144934.3|RCV000282888.1 . MedGen:OMIM:Orphanet|MedGen C3809899:615552:ORPHA391392|CN169374 1 0.982 . . 42.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . 0.8890 0.772 0.889 c . . . . . 5.446e-04 . . . 9.628e-05 0.0005 8.679e-05 0 0.0021 0.0007 0.0014 0 0.0001 0.0005 8.951e-05 0 0.0014 0.0007 0.0029 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.989 . . exonic exonic exonic . . 0.828 0.0002 . . . 0.32 0.43 182 ENSG00000168356 SCN11A SCN11A . . . 1.000 0.747 . 21 0.000323196 64976 20 0.000333411 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.982 0.773 . . 37 . 0.994 . . 0.984 . . . 0.966 0.810 . . . . 1 0 0 0 0 0 0 1 0 0 1 0.930 . . 0 0 0 0 1 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.672 . 0.923 . HET 0 rs141686175 . . . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dEpisodic_pain_syndrome\x2c_familial\x2c_3\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000144934.2\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet:Orphanet\x3bCLNDSDBID\x3dCN182247:615552:ORPHA391384:ORPHA391392 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dEpisodic_pain_syndrome\x2c_familial\x2c_3\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000144934.2\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet:Orphanet\x3bCLNDSDBID\x3dC3809899:615552:ORPHA391384:ORPHA391392 . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 14.5053 0.0 . V.54 V.54 . 0.000000 Q9UI33 . . Name\x3dnsv876711 0.000615 . 0.948 . . V.54 6.545e-05 0.0004 5.97e-05 0 0 0.0015 0.0006 0.0002 0 0.0001 0.0009 0 0 0 0.0023 0.0011 0.0010 . . 0.428 . 2.098 2.098000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.390 0.941 . 0.948 . 0.960 2.098 1.062 0.0013 . . rs141686175 rs141686175 1 1538 10 1/0 0,255,255 +rs61743223 3 39142562 G A - GORASP1 16769 Golgi reassembly stacking protein 1, 65kDa NM_031899.3 -1 3782 1323 NP_114105.1 Q9BQQ3 substitution missense exon GRCh37 39142562 39142562 Chr3(GRCh37):g.39142562G>A 380 380 NM_031899.3:c.380C>T p.Ala127Val p.Ala127Val 4 606867 32 3' 90.0793 XI.06 0.833269 8.29465 90.0793 XI.06 0.833269 8.1305 0 GRASP55/65 rs61743223 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.001000 0.000000 0.007000 0.002900 0.004955 0.000708 0.003167 0.006798 0.000000 0.001624 0.007596 0.004228 0.008824 0.007596 1373 17 109 69 0 50 962 109 57 277114 24008 34416 10150 18870 30782 126646 25782 6460 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 1363 17 109 69 0 50 952 109 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4400 12950 50 6 56 0.00581395 0.00136178 0.00430571 0.00581395 0.00136178 0.00430571 66 CM1515233 Amyotrophic lateral sclerosis 25773295 DM? transition C T C>T 0.992 4.160 A Ala GCC 0.403 V Val GTC 0.240 127 12 11 Baker's yeast 0 0 -1 0 0 8.I 5.IX 31 84 64 C15 60.00 65.28 Deleterious 0.01 II.61 255 PASS . 0.0037 0.0028 . 0.01 . 0.002 0.0029 . 0.007 0.001 . . . . . 0.48 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.764 . @ . . . . . 1 0.988 . . 100.0 . . . 0.0014 0.0043 0.0058 0.0014 0.0043 0.0058 . 0.6727 0.522 0.673 c . . . . . 5.430e-03 . . . 0.0013 0.0049 0.0032 0 0.0045 0.0082 0.0070 0.0015 0.0010 0.0053 0.0030 0 0.0039 0.0085 0.0059 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.670 . . exonic exonic exonic . . 0.658 0.0020 . . . 0.37 0.26 182 ENSG00000114745 GORASP1 GORASP1 . . . 1.000 0.747 . 331 0.00509419 64976 321 0.00535125 59986 Uncertain_significance . 0 . 0.629 . . . . D 0.706 0.069 . . 37 . 0.794 . . 0.855 . . . 0.937 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.737 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 3 0.784 . . . . . 0.747 . 0.876 . HET 0 rs61743223 . 0.007 . . . . . 0.003663003663003663 0.0 0.0027624309392265192 0.0 0.009234828496042216 15.43 0.00107 . IV.99 IV.99 . 0.000000 . . . . 0.004306 . 0.682 . . IV.99 0.0007 0.0050 0.0032 0.0069 0 0.0040 0.0077 0.0091 0.0016 0.0007 0.0043 0.0012 0.0033 0 0.0054 0.0066 0.0072 . . 0.990 . 2.318 2.318000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.217 0.969 . 0.853 . 0.713 2.318 0.917 0.01 . . rs61743223 rs61743223 1 1538 10 1/0 0,255,255 +rs532676788 3 44903401 G C - MIR564 32820 MicroRNA 564 NR_030290.1 1 94 0 substitution exon GRCh37 44903401 44903401 Chr3(GRCh37):g.44903401G>C 22 22 NR_030290.1:n.22G>C 1 0.000025 0.000000 0.000000 0.000000 0.000000 0.000057 0.000037 0.000000 0.000000 0.000057 2 0 0 0 0 1 1 0 0 78782 1202 15528 5730 2912 17578 27324 6270 2238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Exomes transversion G C G>C 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.4520548 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . . . . . . . I.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0004 . . . . . . ENSG00000207783 MIR564 MIR564 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.539e-05 0 0 0 0 3.66e-05 0 5.689e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs532676788 3 44903401 G C - TMEM42 28444 Transmembrane protein 42 NM_144638.2 1 983 480 NP_653239.1 Q69YG0 substitution 5'UTR GRCh37 44903401 44903401 Chr3(GRCh37):g.44903401G>C -16 -16 NM_144638.2:c.-16G>C p.? p.? 1 -208 5' 59.8119 0 0.008152 5.31625 59.8119 0 0.008152 5.31625 0 0.000025 0.000000 0.000000 0.000000 0.000000 0.000057 0.000037 0.000000 0.000000 0.000057 2 0 0 0 0 1 1 0 0 78782 1202 15528 5730 2912 17578 27324 6270 2238 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Exomes transversion G C G>C 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.4520548 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . . . . . . . I.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0004 . . . . . . ENSG00000207783 MIR564 MIR564 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.539e-05 0 0 0 0 3.66e-05 0 5.689e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 3 45461103 T TT - LARS2 17095 Leucyl-tRNA synthetase 2, mitochondrial NM_015340.3 1 4203 2712 NP_056155.1 Q15031 duplication intron GRCh37 45461104 45461105 Chr3(GRCh37):g.45461104dup 456-57 456-57 NM_015340.3:c.456-57dup p.? p.? 6 5 604544 -56 3' 82.9476 VIII.94 0.816896 VI.84 82.9476 VIII.94 0.816896 6.31064 0 rs11383389 yes no Frequency/1000G 2 0.000000 0 0.660343 0.946300 0.591000 0.311500 0.740600 0.603700 0.748254 0.914833 0.527578 0.721854 0.313433 0.000000 0.728650 0.688323 0.688139 0.914833 23142 7981 440 218 504 0 10921 2405 673 30928 8724 834 302 1608 0 14988 3494 978 0.388125 0.457461 0.259091 0.344037 0.152778 0.000000 0.366084 0.347193 0.344725 8982 3651 114 75 77 0 3998 835 232 5178 679 212 68 350 0 2925 735 209 0 0 0 0 0 0 0 0 0 PASS 46 Genomes 2181 375 2556 6073 3891 9964 0.264236 0.0879044 0.204153 0.735764 0.912096 0.795847 77 T 255 Pass . . . . . . . . . . . . . . . . 0.90909094 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33 . . INTRON(MODIFIER||||LARS2|mRNA|CODING|NM_015340|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000011376 LARS2 LARS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs35357583 . . 1 1538 10 1.I 0,4,4 +rs62242177 3 45677637 G T - LIMD1 6612 LIM domains containing 1 NM_014240.2 1 6284 2031 NP_055055.1 Q9UGP4 substitution splice site GRCh37 45677637 45677637 Chr3(GRCh37):g.45677637G>T 1409-5 1409-5 NM_014240.2:c.1409-5G>T p.? p.? 2 1 604543 -5 3' 81.3451 6.38387 0.350952 7.66637 85.1812 9.07897 0.858691 XI.85 0.638693 Cryptic Acceptor Strongly Activated 45677642 6.38387 0.350952 81.3451 9.07897 0.858691 85.1812 rs62242177 yes no Frequency/1000G 2 T 0.000000 0 0.503994 0.503800 0.505100 0.501000 0.504000 0.507200 transversion G T G>T 0.000 -0.037 255 PASS . . . . . 0.5 0.5 0.51 0.5 0.5 0.51 . . . . . 0.9767442 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||LIMD1|mRNA|CODING|NM_014240|) . . . . . . . 0.6360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4960 . . . 0.41 0.25 182 ENSG00000144791 LIMD1 LIMD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62242177 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62242177 rs62242177 rs62242177 rs62242177 1 1538 255 1.I 0,0,255 +rs62242178 3 45677638 C G - LIMD1 6612 LIM domains containing 1 NM_014240.2 1 6284 2031 NP_055055.1 Q9UGP4 substitution splice site GRCh37 45677638 45677638 Chr3(GRCh37):g.45677638C>G 1409-4 1409-4 NM_014240.2:c.1409-4C>G p.? p.? 2 1 604543 -4 3' 81.3451 6.38387 0.350952 7.66637 81.3451 6.04059 0.262429 6.23432 -0.102003 rs62242178 yes no Frequency/1000G 2 G 0.000000 0 0.495008 0.492400 0.482600 0.500000 0.503000 0.498600 transversion C G C>G 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.9775281 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||LIMD1|mRNA|CODING|NM_014240|) . . . . . . . 0.6412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.42 0.25 182 ENSG00000144791 LIMD1 LIMD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62242178 . . . . . . . . . . . . . . . . . . . . 0.0003 0.042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62242178 rs62242178 rs62242178 rs62242178 1 1538 255 1.I 0,0,255 +rs63132361 3 45677639 A C - LIMD1 6612 LIM domains containing 1 NM_014240.2 1 6284 2031 NP_055055.1 Q9UGP4 substitution splice site GRCh37 45677639 45677639 Chr3(GRCh37):g.45677639A>C 1409-3 1409-3 NM_014240.2:c.1409-3A>C p.? p.? 2 1 604543 -3 3' 81.3451 6.38387 0.350952 7.66637 91.3125 X.62 0.940523 X.61 0.801968 Cryptic Acceptor Strongly Activated 45677642 6.38387 0.350952 81.3451 X.62 0.940523 91.3125 rs63132361 yes no Frequency/1000G 2 C 0.000000 0 0.495008 0.492400 0.482600 0.500000 0.503000 0.498600 8207 4174 12381 393 232 625 0.0456977 0.0526555 0.0480547 0.0456977 0.0526555 0.0480547 157 transversion A C A>C 0.220 0.367 111 PASS . . . . . 0.49 0.49 0.5 0.5 0.5 0.48 . . . . . 0.9764706 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . INTRON(MODIFIER||||LIMD1|mRNA|CODING|NM_014240|) 0.053 0.048 0.046 0.053 0.048 0.046 . 1.0436 . . . . . . . . 5.285e-03 . . . 1 0.9837 1 0.9722 1 0.9917 1 0.92 1 0.9883 1 0.9756 1 1 1 0.92 . . . . . . intronic intronic intronic . . . 0.4950 . . . 0.4 0.28 182 ENSG00000144791 LIMD1 LIMD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs63132361 . . . . . . . . . . . . . . . . . . . . 0 0.026 . 0.048055 . . . . II.38 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.053 rs63132361 rs63132361 rs63132361 rs63132361 1 1538 255 1.I 0,0,255 +. 3 46501284 C CATT - LTF 6720 Lactotransferrin NM_002343.5 -1 2619 2133 NP_002334.2 P02788 insertion in-frame exon GRCh37 46501284 46501285 Chr3(GRCh37):g.46501284_46501285insATT 68 69 NM_002343.5:c.68_69insAAT p.Arg23_Ser24insMet p.Arg23_Ser24insMet 2 150210 25 3' 84.169 9.54655 0.938475 X.23 84.169 9.54655 0.938475 X.42 0 Transferrin AAT 255 Pass . . . . . . . . . . . . . LTF:NM_002343:exon2:c.68_69insAAT:p.R23delinsRM . . 1.0 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000012223 LTF LTF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 3 46935223 T A - PTH1R 9608 Parathyroid hormone 1 receptor NM_001184744.1 1 1991 1782 NP_001171673.1 Q03431 substitution intron GRCh37 46935223 46935223 Chr3(GRCh37):g.46935223T>A 76-174 76-174 NM_001184744.1:c.76-174T>A p.? p.? 3 2 168468 -174 3' 83.6112 8.45499 0.782157 7.26192 83.6112 8.45499 0.782157 7.26192 0 Cryptic Donor Strongly Activated 46935225 4.70008 0.311375 69.3239 5.19351 0.712995 73.1453 transversion T A T>A 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.65 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.7420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000160801 PTH1R PTH1R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201643728 3 47956384 T C - MAP4 6862 Microtubule-associated protein 4 NM_002375.4 -1 6327 3459 NP_002366.2 P27816 substitution missense exon GRCh37 47956384 47956384 Chr3(GRCh37):g.47956384T>C 1922 1922 NM_002375.4:c.1922A>G p.Glu641Gly p.Glu641Gly 8 157132 46 3' 79.7317 7.50146 0.960469 3.41244 79.7317 7.50146 0.960469 3.15921 0 Cryptic Acceptor Strongly Activated 47956369 0.005833 68.9119 0.70915 0.012691 68.9119 rs201643728 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000105 0.000000 0.000058 0.000000 0.000000 0.000000 0.000205 0.000000 0.000155 0.000205 29 0 2 0 0 0 26 0 1 277210 24028 34418 10152 18870 30780 126710 25790 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 0 2 0 0 0 26 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 161 transition A G A>G 0.000 0.448 E Glu GAG 0.583 G Gly GGG 0.250 641 10 7 Lesser hedgehog tenrec -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 147.78 0.00 Tolerated 0.16 III.68 good 4.159E-1 0.086 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . . . . . . 0.48 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.134 . @ . . . . . 1 0.336 . . 75.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.7817 -0.863 -0.782 c . . . . . 1.263e-04 . . . 0 0.0001 8.648e-05 0 0 0.0002 0 0 0 0.0001 8.917e-05 0 0 0.0002 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.239 0.0002 . . . 0.4 0.18 182 ENSG00000047849 MAP4 MAP4 . . . 0.064 0.153 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.126 0.005 . . 37 . 0.126 . . 0.282 . . . 0.263 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.654 . . 0 0 0 0 0 0 . 0.215 . . 0.218 . . . . . . 0 0.453 . . . . . 0.125 . 0.156 . HET 0.03 rs201643728 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 IV.74 . . IV.29 I.79 . 0.110000 . . . . 0.000077 . 0.117 . . . 0 8.934e-05 2.978e-05 0 0 0 0.0002 0.0002 0 0 0.0002 0.0012 0 0 0 0.0004 0 . . 0.730 . 0.235 0.235000 . . 0.110000 . . 1.0E-255 0.008 0.178 . 0.043 0.001 . 0.300 . 0.157 0.235 -0.208 0.0028 . . rs201643728 rs201643728 1 1538 10 1/0 0,255,255 +rs183648716 3 48463236 C T - PLXNB1 9103 Plexin B1 NM_001130082.2 -1 7143 6408 NP_001123554.1 O43157 substitution intron GRCh37 48463236 48463236 Chr3(GRCh37):g.48463236C>T 1521-21 1521-21 NM_001130082.2:c.1521-21G>A p.? p.? 7 6 601053 -21 3' 81.7419 6.19228 0.478142 2.37439 81.7419 6.19228 0.51712 3.24701 0.0271732 rs183648716 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000218 0.000042 0.000119 0.000412 0.000000 0.000000 0.000386 0.000000 0.000317 0.000412 59 1 4 4 0 0 48 0 2 270964 23930 33670 9706 18746 29962 124446 24196 6308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 1 4 4 0 0 48 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 33 transition G A G>A 0.000 -0.521 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . . . . . . 0.5 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.2919 . . . . . . . . 3.000e-04 . . . 9.895e-05 0.0003 8.684e-05 0 0 0.0006 0.0014 0 0.0001 0.0003 8.949e-05 0 0 0.0005 0.0015 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.19 0.18 182 ENSG00000164050 PLXNB1 PLXNB1 . . . . . . 14 0.000215464 64976 13 0.000216717 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183648716 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 6.579e-05 0.0002 9.137e-05 0.0004 0 0 0.0004 0.0004 0 0 0.0002 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs183648716 rs183648716 1 1538 10 1/0 0,255,255 +. 3 48936204 G A - SLC25A20 1421 Solute carrier family 25 member 20 NM_000387.5 -1 1892 906 NP_000378.1 O43772 substitution synonymous exon GRCh37 48936204 48936204 Chr3(GRCh37):g.48936204G>A 24 24 NM_000387.5:c.24C>T p.Ile8= p.Ile8Ile 1 613698 -82 5' 79.5269 8.16693 0.73148 8.55674 79.5269 8.16693 0.73148 8.55674 0 Mitochondrial substrate/solute carrier Mitochondrial carrier domain transition C T C>T 1.000 1.174 I Ile ATC 0.481 I Ile ATT 0.356 8 255 PASS . . . . . . . . . . . . SLC25A20:uc003cva.4:exon1:c.C24T:p.I8I SLC25A20:NM_000387:exon1:c.C24T:p.I8I . . 0.4631579 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 95.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I8|SLC25A20|mRNA|CODING|NM_000387|NM_000387.ex.1) . . . . . . . II.85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000178537 SLC25A20 SLC25A20 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 3 49137599 C G - MIR6890 49990 MicroRNA 6890 NR_106950.1 -1 61 0 substitution upstream GRCh37 49137599 49137599 Chr3(GRCh37):g.49137599C>G -252 -252 NR_106950.1:n.-252G>C p.? p.? 1 0.000004 0.000000 0.000030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000030 1 0 1 0 0 0 0 0 0 245886 15294 33574 9834 17246 30780 111384 22294 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 120 Exomes transversion G C G>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.4943182 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . 0.6167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172053 QARS QARS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.III 0 4.067e-06 2.979e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 3 49137599 C G - QARS 9751 Glutaminyl-tRNA synthetase NM_005051.2 -1 2821 2328 NP_005042.1 P47897 substitution intron GRCh37 49137599 49137599 Chr3(GRCh37):g.49137599C>G 1164+24 1164+24 NM_005051.2:c.1164+24G>C p.? p.? 13 13 603727 24 5' 77.4835 4.40651 0.480338 2.45139 77.4835 4.40651 0.480338 1.76823 0 Cryptic Acceptor Strongly Activated 49137582 0.157622 5.5e-05 62.3505 1.42896 6.1e-05 62.3505 0.000004 0.000000 0.000030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000030 1 0 1 0 0 0 0 0 0 245886 15294 33574 9834 17246 30780 111384 22294 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 120 Exomes transversion G C G>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.4943182 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . 0.6167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172053 QARS QARS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.III 0 4.067e-06 2.979e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs191007588 3 49154938 G C - USP19 12617 Ubiquitin specific peptidase 19 NM_001351100.1 -1 4867 4263 NP_001338029.1 substitution missense exon GRCh37 49154938 49154938 Chr3(GRCh37):g.49154938G>C 538 538 NM_001351100.1:c.538C>G p.Arg180Gly p.Arg180Gly 5 614471 66 3' 87.0653 X.08 0.961436 9.75748 87.0653 X.08 0.961436 9.39534 0 rs191007588 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000105 0.000000 0.000058 0.000000 0.000000 0.000000 0.000205 0.000000 0.000155 0.000205 29 0 2 0 0 0 26 0 1 277156 24010 34420 10152 18864 30782 126698 25776 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 0 2 0 0 0 26 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.827 0.851 R Arg CGC 0.190 G Gly GGC 0.342 180 12 6 Tetraodon -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 171.50 0.00 Tolerated 0.23 3.I 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . . . . . . 0.4060606 . . @ 67 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.403 . @ . . . . . 1 0.601 . . 165.0 . . . . . . . . . . -0.2453 -0.200 -0.245 c . . . . . 1.275e-04 . . . 0 0.0001 8.652e-05 0 0 0.0002 0 0 0 0.0001 8.919e-05 0 0 0.0002 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.466 0.0002 . . . 0.58 0.49 182 ENSG00000172046 USP19 USP19 . . . 0.918 0.265 . . . . . . . Uncertain_significance . 0 . 0.154 . . . . T 0.463 0.023 . . 37 . 0.209 . . 0.072 . . . 0.380 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.508 . . 0 0 0 0 0 0 . 0.647 . . 0.630 . . . . . . 1 0.384 . . . . . 0.383 . 0.378 . HET 0.06 rs191007588 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 IX.76 . . V.86 4.VII . 0.130000 . . . . . . 0.413 . . 4.VII 0 0.0001 2.978e-05 0 0 0 0.0002 0.0002 0 0 0.0001 0.0012 0 0 0 0.0002 0 . . 0.730 . 0.820 0.820000 . . 0.130000 . . 1.0E-255 1.000 0.715 . 0.188 0.048 . 0.398 . 0.026 0.820 0.028 0.0028 . . rs191007588 rs191007588 1 1538 10 1/0 0,231,255 +rs116717961 3 49548226 A G - DAG1 2666 Dystroglycan 1 NM_001165928.3 1 5886 2688 NP_001159400.2 Q14118 substitution missense exon GRCh37 49548226 49548226 Chr3(GRCh37):g.49548226A>G 259 259 NM_001165928.3:c.259A>G p.Ile87Val p.Ile87Val 5 128239 -27 5' 90.0021 8.68007 0.993233 7.72322 90.0021 8.68007 0.993233 7.30766 0 Cryptic Acceptor Strongly Activated 49548237 4.20965 0.152244 82.7617 4.83696 0.182705 82.7646 Dystroglycan-type cadherin-like Cadherin-like rs116717961 yes no Frequency/1000G 2 A 0.000000 0 0.005591 0.002300 0.000000 0.000000 0.015900 0.013000 0.007807 0.001332 0.015960 0.004145 0.000000 0.000032 0.010274 0.006127 0.012527 0.015960 2161 32 549 42 0 1 1298 158 81 276792 24032 34398 10132 18866 30772 126340 25786 6466 0.000130 0.000000 0.000523 0.000000 0.000000 0.000000 0.000127 0.000078 0.000000 18 0 9 0 0 0 8 1 0 2125 32 531 42 0 1 1282 156 81 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8500 4399 12899 100 7 107 0.0116279 0.00158874 0.00822697 0.0116279 0.00158874 0.00822697 41 RCV000514706.1|RCV000116864.4 germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing Likely benign|Conflicting interpretations of pathogenicity 1|1 not provided|not specified transition A G A>G 1.000 1.013 I Ile ATT 0.356 V Val GTT 0.178 87 12 8 Chicken 3 3 4 0 0 5.II 5.IX 111 84 29 C0 117.78 0.00 Tolerated 0.48 III.40 255 PASS 0.002 0.01 0.02 . 0.01 0.0023 0.0056 0.013 . 0.016 . . . . . . 0.5904762 . . germline 62 . . 1.2.2016 0 0 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.141 . Likely//\@benign Likely_benign RCV000116864.3 not_specified MedGen CN169374 1 0.164 . . 105.0 . . . 0.0016 0.0082 0.012 0.0016 0.0082 0.012 . -0.2776 -0.103 -0.278 c . . . . . 7.229e-03 . . . 0.0015 0.0076 0.0148 0 0.0032 0.0113 0.0126 6.144e-05 0.0016 0.0071 0.0145 0 0.0044 0.0099 0.0101 6.178e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.984 . . exonic exonic exonic . . 0.498 0.0056 . . . 0.51 0.16 182 ENSG00000173402 DAG1 DAG1 . . . 0.001 0.081 . 595 0.00915723 64976 567 0.00945221 59986 Likely_benign . 0 . 0.405 . . . . . . . . . 37 . 0.901 . . 0.841 . . . 0.413 0.270 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 1 0 . 0.126 . . 0.063 . . . . . . 0 0.506 . . . . . 0.246 . 0.289 . HET 0.03 rs116717961 . . . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000116864.2\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000116864.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000116864.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . 0.007326007326007326 0.0020325203252032522 0.016574585635359115 0.0 0.011873350923482849 7.1497 0.001873 . V.44 IV.27 . 0.350000 Q14118 . . Name\x3dnsv834687 0.008227 . 0.509 . . IV.27 0.0014 0.0080 0.0158 0.0042 0 0.0063 0.0104 0.0129 3.25e-05 0.0011 0.0062 0.0227 0.0033 0 0.0049 0.0090 0.0102 . . 0.730 . 0.866 0.866000 . . 0.350000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.427 . 0.866 0.866 1.062 0.02 . . rs116717961 rs116717961 1 1538 10 1/0 0,255,255 +rs4052589 3 49722397 G A - APEH 586 N-acylaminoacyl-peptide hydrolase NM_001640.3 1 2758 2199 NP_001631.3 P13798 substitution downstream GRCh37 49722397 49722397 Chr3(GRCh37):g.49722397G>A *1622 *1622 NM_001640.3:c.*1622G>A p.? p.? 22 102645 1728 3' 83.8335 6.17684 0.274624 3.35683 83.8335 6.17684 0.274624 3.35683 0 rs4052589 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243878 15004 33514 9762 17210 30692 110124 22114 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 92 Exomes transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.4169884 . . @ 108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 259.0 . . . . . . . . . . -0.0185 . . . . . . . . 7.900e-06 . . . . . . . . . . . 0 1.055e-05 0 0 0 2.073e-05 0 0 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.63 0.13 182 ENSG00000259970 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs4052589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4052589 rs4052589 rs4052589 rs4052589 1 1538 10 1/0 0,213,244 +rs4052589 3 49722397 G A - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution intron GRCh37 49722397 49722397 Chr3(GRCh37):g.49722397G>A 1622+48 1622+48 NM_020998.3:c.1622+48C>T p.? p.? 14 14 142408 48 5' 81.348 8.04975 0.982228 6.94906 81.348 8.04975 0.982228 6.85553 0 Cryptic Acceptor Weakly Activated 49722388 X.02 0.956096 83.0666 XI.46 0.975024 85.7784 rs4052589 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243878 15004 33514 9762 17210 30692 110124 22114 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 92 Exomes transition C T C>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.4169884 . . @ 108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 259.0 . . . . . . . . . . -0.0185 . . . . . . . . 7.900e-06 . . . . . . . . . . . 0 1.055e-05 0 0 0 2.073e-05 0 0 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.63 0.13 182 ENSG00000259970 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs4052589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4052589 rs4052589 rs4052589 rs4052589 1 1538 10 1/0 0,213,244 +rs760656029 3 49722464 G C - APEH 586 N-acylaminoacyl-peptide hydrolase NM_001640.3 1 2758 2199 NP_001631.3 P13798 substitution downstream GRCh37 49722464 49722464 Chr3(GRCh37):g.49722464G>C *1689 *1689 NM_001640.3:c.*1689G>C p.? p.? 22 102645 1795 3' 83.8335 6.17684 0.274624 3.35683 83.8335 6.17684 0.274624 3.35683 0 COSM584154|COSM584154|COSM584154 Thyroid|Skin|Lung 0.001339|0.000812|0.001165 747|1232|2576 transversion G C G>C 1.000 2.707 184 PASS . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon14:c.C1603G:p.R535G MST1:uc003cxg.3:exon14:c.C1603G:p.R535G MST1:NM_020998:exon14:c.C1603G:p.R535G . . 0.12138728 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.660 . @ . . . . . 1 0.460 . . 173.0 . . . . . . . . . . 0.3863 0.475 0.386 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.924 . . exonic exonic exonic . . 0.610 @ . . . . . . ENSG00000173531 MST1 MST1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.239 . . . . D 0.645 0.051 . . 37 . 0.847 . . 0.870 . . . 0.037 0.417 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.615 . . 0.508 . . . . . . 1 0.654 . . . . . 0.537 . 0.580 . LowAF 0 . . . . . . . . . . . . . XII.18 . ENST00000449682 4.VIII 4.VIII . 0.030000 G3XAK1 . . . . . 0.723 . . 4.VIII . . . . . . . . . . . . . . . . . . . 0.988 . 2.636 2.636000 . . 0.030000 . . 9.999999999999999E-185 0.972 0.342 . 0.750 0.985 . 0.621 . 0.539 2.636 0.917 . . . . . 1 1538 10 1/0 0,205,255 +rs760656029 3 49722464 G C - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution missense exon GRCh37 49722464 49722464 Chr3(GRCh37):g.49722464G>C 1603 1603 NM_020998.3:c.1603C>G p.Arg535Gly p.Arg535Gly 14 142408 -20 5' 81.348 8.04975 0.982228 6.94906 81.348 8.04975 0.982228 6.77179 0 Peptidase S1/S6, chymotrypsin/Hap Peptidase S1A, chymotrypsin-type COSM584154|COSM584154|COSM584154 Thyroid|Skin|Lung 0.001339|0.000812|0.001165 747|1232|2576 transversion C G C>G 1.000 2.707 R Arg CGG 0.207 G Gly GGG 0.250 535 11 10 Lesser hedgehog tenrec -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C15 101.88 109.60 Deleterious 0.04 IV.32 bad 3.164E-5 0.002081 184 PASS . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon14:c.C1603G:p.R535G MST1:uc003cxg.3:exon14:c.C1603G:p.R535G MST1:NM_020998:exon14:c.C1603G:p.R535G . . 0.12138728 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.660 . @ . . . . . 1 0.460 . . 173.0 . . . . . . . . . . 0.3863 0.475 0.386 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.924 . . exonic exonic exonic . . 0.610 @ . . . . . . ENSG00000173531 MST1 MST1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.239 . . . . D 0.645 0.051 . . 37 . 0.847 . . 0.870 . . . 0.037 0.417 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.615 . . 0.508 . . . . . . 1 0.654 . . . . . 0.537 . 0.580 . LowAF 0 . . . . . . . . . . . . . XII.18 . ENST00000449682 4.VIII 4.VIII . 0.030000 G3XAK1 . . . . . 0.723 . . 4.VIII . . . . . . . . . . . . . . . . . . . 0.988 . 2.636 2.636000 . . 0.030000 . . 9.999999999999999E-185 0.972 0.342 . 0.750 0.985 . 0.621 . 0.539 2.636 0.917 . . . . . 1 1538 10 1/0 0,205,255 +. 3 49722905 T TGG - APEH 586 N-acylaminoacyl-peptide hydrolase NM_001640.3 1 2758 2199 NP_001631.3 P13798 duplication downstream GRCh37 49722911 49722912 Chr3(GRCh37):g.49722910_49722911dup *2135 *2136 NM_001640.3:c.*2135_*2136dup p.? p.? 22 102645 2242 3' 83.8335 6.17684 0.274624 3.35683 83.8335 6.17684 0.274624 3.35683 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30276 8506 832 302 1602 0 14618 3456 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Genomes GG 255 Pass . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon12:c.1421_1422insCC:p.P474fs MST1:uc003cxg.3:exon12:c.1421_1422insCC:p.P474fs MST1:NM_020998:exon12:c.1421_1422insCC:p.P474fs . . 0.12990937 . . . 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs10681572 rs10681572 1 1538 10 1.I 0,5,89 +. 3 49722905 T TGG - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 duplication frameshift exon GRCh37 49722905 49722906 Chr3(GRCh37):g.49722906_49722907dup 1420 1421 NM_020998.3:c.1420_1421dup p.Asp475Glnfs*52 p.Asp475Glnfs*52 12 142408 -2 5' 85.1056 6.25325 0.960209 1.54172 85.1056 6.25325 0.960209 2.19432 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30276 8506 832 302 1602 0 14618 3456 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Genomes CC 255 Pass . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon12:c.1421_1422insCC:p.P474fs MST1:uc003cxg.3:exon12:c.1421_1422insCC:p.P474fs MST1:NM_020998:exon12:c.1421_1422insCC:p.P474fs . . 0.12990937 . . . 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs10681572 rs10681572 1 1538 10 1.I 0,5,89 +rs9713630 3 49723144 C T - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution synonymous exon GRCh37 49723144 49723144 Chr3(GRCh37):g.49723144C>T 1272 1272 NM_020998.3:c.1272G>A p.Pro424= p.Pro424Pro 11 142408 22 3' 75.4141 7.43053 0.974586 9.59966 75.4141 7.43053 0.974586 9.30335 0 Kringle rs9713630 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000029 1 0 1 0 0 0 0 0 0 275536 23892 34330 10106 18782 30682 125588 25716 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -2.781 P Pro CCG 0.115 P Pro CCA 0.274 424 174 PASS . . . . . . . . . . . ENSG00000173531:ENST00000449682:exon11:c.G1272A:p.P424P MST1:uc011bcs.1:exon10:c.G1388A:p.R463H MST1:NM_020998:exon11:c.G1272A:p.P424P . . 0.10051546 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 388.0 . . . . . . . . . . -0.3971 . . . . . . . . 6.869e-04 . . . 0.0003 0.0002 8.675e-05 0 0 0.0003 0 0.0001 0 7.586e-05 8.933e-05 0 0.0002 7.42e-05 0 0.0001 synonymous_SNV nonsynonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.46 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs9713630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.084e-06 2.986e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs9713630 rs9713630 rs9713630 rs9713630 1 1538 10 1/0 0,167,255 +rs9714011 3 49723167 T G - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution splice site GRCh37 49723167 49723167 Chr3(GRCh37):g.49723167T>G 1251-2 1251-2 NM_020998.3:c.1251-2A>C p.? p.? 11 10 142408 -2 3' 75.4141 7.43053 0.974586 9.59966 0 0 0 0 -1 rs9714011 yes no Frequency 1 T 0.000000 0 0.000011 0.000042 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000042 3 1 0 0 0 0 2 0 0 273066 23774 33930 10072 18724 30546 124110 25524 6386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM1286289 Autonomic ganglia 0.001305 766 transversion A C A>C 0.992 1.577 223 PASS . . . . . . . . . . . . . . . . 0.22018349 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.377 . @ . . . . . 0 0.139 . . 436.0 . . . . . . . . . . 0.5503 0.330 0.550 c . . . . . 4.612e-03 . . . 0.0022 0.0035 0.0048 0.0011 0.0026 0.0036 0.0028 0.0038 0.0014 0.0028 0.0044 0.0020 0.0040 0.0025 0.0029 0.0038 . . . . . . splicing splicing splicing . . 0.464 @ . . . 0.53 0.49 182 ENSG00000173531 MST1 MST1 . . NM_020998:exon11:c.1251-2A>C 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . 0.170 . . . HET . rs9714011 . . . . . . . . . . . . V.02 . ENST00000449682 V.22 4.VI . . . 0.9999 0.908 . . . 0.437 . . 4.VI 6.591e-05 1.236e-05 0 0 0 0 1.826e-05 0 0 0 0 0 0 0 0 0 0 . . 0.033 . 0.825 0.825000 . . . . . 1.0E-223 0.998 0.411 . 0.137 0.014 . 0.481 . 0.192 0.825 0.084 . rs9714011 rs9714011 rs9714011 rs9714011 1 1538 10 1/0 0,173,234 +rs9714343 3 49723174 A G - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution intron GRCh37 49723174 49723174 Chr3(GRCh37):g.49723174A>G 1251-9 1251-9 NM_020998.3:c.1251-9T>C p.? p.? 11 10 142408 -9 3' 75.4141 7.43053 0.974586 9.59966 72.7022 7.43775 0.956226 9.04407 -0.0179423 rs9714343 yes no Frequency 1 A 0.000000 0 0.000034 0.000043 0.000000 0.000000 0.000000 0.000100 0.000033 0.000040 0.000000 0.000100 9 1 0 0 0 3 4 1 0 268096 23446 33204 9990 18472 30150 121496 25058 6280 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 0 3 4 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4325075 Haematopoietic and lymphoid tissue 0.000567 3530 transition T C T>C 0.000 -0.440 229 PASS . . . . . . . . . . . . . . . . 0.2397541 . . @ 117 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 488.0 . . . . . . . . . . 0.1822 . . . . . . . . 4.636e-03 . . . 0.0018 0.0035 0.0052 0.0014 0.0024 0.0038 0.0029 0.0039 0.0012 0.0029 0.0048 0.0021 0.0039 0.0025 0.0029 0.0039 . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.47 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9714343 . . . . . . . . . . . . . . . . . . . . 0.0001 0.004 . . . . . . . 6.668e-05 3.354e-05 0 0 0 0 3.728e-05 0 9.95e-05 0 3.383e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs9714343 rs9714343 rs9714343 rs9714343 1 1538 10 1/0 0,170,226 +rs201002737 3 49723234 C T - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution intron GRCh37 49723234 49723234 Chr3(GRCh37):g.49723234C>T 1250+59 1250+59 NM_020998.3:c.1250+59G>A p.? p.? 10 10 142408 59 5' 71.5327 7.394 0.918713 9.77278 71.5327 7.394 0.918713 IX.34 0 rs201002737 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 -0.117 201 PASS . . . . . . . . . . . . . . . . 0.15966387 . . @ 114 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 714.0 . . . . . . . . . . 0.2094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.44 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201002737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs201002737 rs201002737 1 1538 10 1/0 0,146,229 +rs6777426 3 49723881 G C - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution missense exon GRCh37 49723881 49723881 Chr3(GRCh37):g.49723881G>C 881 881 NM_020998.3:c.881C>G p.Thr294Ser p.Thr294Ser 8 142408 34 3' 71.6176 5.0427 0.044749 0 71.6176 5.0427 0.044749 0 0 rs6777426 yes no Frequency 1 G 0.000000 0 0.000886 0.001026 0.000380 0.000118 0.000527 0.003118 0.000559 0.001204 0.000532 0.003118 219 22 11 1 9 79 65 29 3 247172 21436 28932 8460 17086 25334 116188 24096 5640 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 219 22 11 1 9 79 65 29 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM221994|COSM221994|COSM221994|COSM221994|COSM221994 Urinary tract|Thyroid|Skin|Lung|Haematopoietic and lymphoid tissue 0.002976|0.005355|0.000812|0.000776|0.000850 672|747|1232|2576|3530 transversion C G C>G 0.874 3.757 T Thr ACT 0.243 S Ser AGT 0.149 294 11 8 Opossum 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 103.68 0.00 Tolerated 0.19 IV.32 good 8.576E-1 0.008523 198 PASS . . . . . . . . . . . . . MST1:NM_020998:exon8:c.C881G:p.T294S . . 0.15311004 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.347 . @ . . . . . 1 0.312 . . 209.0 . . . . . . . . . . -0.0940 0.040 -0.094 c . . . . . 5.707e-03 . . . 0.0071 0.0035 0.0015 0.0002 0.0019 0.0028 0.0075 0.0062 0.0065 0.0027 0.0014 0.0001 0.0042 0.0015 0.0047 0.0062 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.878 . . exonic exonic exonic . . 0.598 @ . . . 0.41 0.41 182 ENSG00000173531 MST1 MST1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.210 . . . . D 0.553 0.034 . . 37 . 0.804 . . 0.764 . . . 0.356 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.368 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 1 0.157 . . . . . 0.675 . 0.420 . HET 0.26 rs6777426 . . . . . . . . . . . . 14.5452 0.0 . V.67 IV.75 . 0.060000 . . . . . . 0.540 . . IV.75 0.0004 0.0009 0.0004 0.0001 0.0004 0.0014 0.0006 0.0006 0.0031 0.0023 0.0008 0 0 0.0024 0 0.0002 0 . . 0.994 . 2.673 2.673000 . . 0.060000 . . 1.0E-198 1.000 0.715 . 0.214 0.003 . 0.551 . 0.539 2.673 0.917 . rs6777426 rs6777426 rs6777426 rs6777426 1 1538 10 1/0 0,199,255 +rs200815465 3 49724986 T C - MST1 7380 Macrophage stimulating 1 (hepatocyte growth factor-like) NM_020998.3 -1 2331 2178 NP_066278.3 substitution splice site GRCh37 49724986 49724986 Chr3(GRCh37):g.49724986T>C 355+3 355+3 NM_020998.3:c.355+3A>G p.? p.? 3 3 142408 3 5' 99.7688 0 0 0 88.2735 0 0 0 -0.115219 rs200815465 yes no Frequency/1000G 2 T 0.000000 0 0.004792 0.006100 0.005100 0.000000 0.002000 0.013000 0.000087 0.000066 0.000061 0.000103 0.000000 0.000000 0.000136 0.000000 0.000372 0.000136 21 1 2 1 0 0 15 0 2 242436 15102 32692 9674 17162 30346 110016 22064 5380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 2 1 0 0 15 0 2 0 0 0 0 0 0 0 0 0 RF 104 Exomes transition A G A>G 0.000 -1.247 197 PASS . . . . . 0.0061 0.0048 0.013 . 0.002 0.0051 . . . . . 0.15081967 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 305.0 . . . . . . . . . . -0.1507 . . . . . . . . 5.685e-04 . . . 0.0005 0.0001 0 0 0.0003 0.0001 0.0014 6.078e-05 0.0004 0.0001 0 0.0001 0.0006 5.559e-05 0.0015 6.111e-05 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.25 0.34 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0.16 rs200815465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.622e-05 8.662e-05 6.118e-05 0.0001 0 0 0.0001 0.0004 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs200815465 rs200815465 1 1538 10 1/0 0,183,255 +rs200815465 3 49724986 T C - RNF123 21148 Ring finger protein 123 NM_022064.4 1 4313 3945 NP_071347.2 Q5XPI4 substitution upstream GRCh37 49724986 49724986 Chr3(GRCh37):g.49724986T>C -2090 -2090 NM_022064.4:c.-2090T>C p.? p.? 1 614472 -2054 5' 86.6769 9.89081 0.969113 X.22 86.6769 9.89081 0.969113 X.22 0 rs200815465 yes no Frequency/1000G 2 T 0.000000 0 0.004792 0.006100 0.005100 0.000000 0.002000 0.013000 0.000087 0.000066 0.000061 0.000103 0.000000 0.000000 0.000136 0.000000 0.000372 0.000136 21 1 2 1 0 0 15 0 2 242436 15102 32692 9674 17162 30346 110016 22064 5380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 2 1 0 0 15 0 2 0 0 0 0 0 0 0 0 0 RF 104 Exomes transition T C T>C 0.000 -1.247 197 PASS . . . . . 0.0061 0.0048 0.013 . 0.002 0.0051 . . . . . 0.15081967 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 305.0 . . . . . . . . . . -0.1507 . . . . . . . . 5.685e-04 . . . 0.0005 0.0001 0 0 0.0003 0.0001 0.0014 6.078e-05 0.0004 0.0001 0 0.0001 0.0006 5.559e-05 0.0015 6.111e-05 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.25 0.34 182 ENSG00000173531 MST1 MST1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0.16 rs200815465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.622e-05 8.662e-05 6.118e-05 0.0001 0 0 0.0001 0.0004 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs200815465 rs200815465 1 1538 10 1/0 0,183,255 +rs146225272 3 49738973 C T - RNF123 21148 Ring finger protein 123 NM_022064.4 1 4313 3945 NP_071347.2 Q5XPI4 substitution missense exon GRCh37 49738973 49738973 Chr3(GRCh37):g.49738973C>T 1327 1327 NM_022064.4:c.1327C>T p.Arg443Cys p.Arg443Cys 16 614472 50 3' 71.1349 3.00866 0.038642 0 71.1349 3.00866 0.038642 0 0 Cryptic Donor Strongly Activated 49738971 53.834 1.33289 0.003904 63.9347 rs146225272 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000672 0.000125 0.000058 0.001184 0.000106 0.000195 0.001060 0.000737 0.001237 0.001184 186 3 2 12 2 6 134 19 8 276800 23984 34404 10132 18862 30778 126382 25792 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 3 2 12 2 6 134 19 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 52 transition C T C>T 1.000 2.142 R Arg CGT 0.082 C Cys TGT 0.448 443 12 8 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0.0005 0.0028 . . . 0.0004 0.0014 . 0.001 . . . RNF123:NM_022064:exon16:c.C1327T:p.R443C . . 0.4642857 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.953 . @ . . . . . 1 0.997 . . 112.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R443C|RNF123|mRNA|CODING|NM_022064|NM_022064.ex.16) . 0.0008 0.0012 . 0.0008 0.0012 . 0.4762 0.502 0.476 c . . . . . 6.867e-04 . . . 0 0.0006 8.66e-05 0 0.0011 0.0012 0.0014 0.0001 0 0.0007 8.919e-05 0 0.0011 0.0011 0.0029 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.775 . . exonic exonic exonic . . 0.836 0.0004 . . . 0.4 0.37 182 ENSG00000164068 RNF123 RNF123 . . . 1.000 0.747 . 36 0.000554051 64976 34 0.000566799 59986 Uncertain_significance . 0 . 0.429 . . . . D 0.874 0.213 . . 37 . 0.788 . . 0.800 . . . 0.263 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.364 . . 0 0 0 0 0 0 . 0.899 . . 0.797 . . . . . . 0 0.721 . . . . . 0.607 . 0.917 . HET 0 rs146225272 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 13.4866 0.0 . V.56 V.56 . 0.060000 . . . Name\x3dnsv508217 0.000769 . 0.522 . . V.56 6.554e-05 0.0006 2.979e-05 0.0012 5.8e-05 0.0008 0.0010 0.0013 0.0002 0.0002 0.0009 0.0012 0 0.0006 0.0006 0.0015 0.0010 . . 0.998 . 2.618 2.618000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.387 0.997 . 0.419 . 0.445 2.618 0.871 0.0028 . . rs146225272 rs146225272 1 1538 10 1/0 0,253,255 +rs7433231 (chr3:49928691 T/C) 3 49928691 T C Transcript NM_002447.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) MST1R +rs782617634 3 50332357 G A - HYAL3 5322 Hyaluronoglucosaminidase 3 NM_001200029.1 -1 1731 1254 NP_001186958.1 O43820 substitution missense exon GRCh37 50332357 50332357 Chr3(GRCh37):g.50332357G>A 677 677 NM_001200029.1:c.677C>T p.Ala226Val p.Ala226Val 2 604038 -218 5' 100 X.83 0.997689 XII.08 100 X.83 0.997689 XII.08 0 Hyaluronidase Glycoside hydrolase, superfamily rs782617634 yes no Frequency 1 G 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000027 3 0 0 0 0 0 3 0 0 241780 15278 33266 9406 17224 30006 109256 21966 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes transition C T C>T 0.000 0.448 A Ala GCC 0.403 V Val GTC 0.240 226 12 6 Horse 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 149.53 0.00 Tolerated 0.27 II.98 good 9.029E-1 0.1311 255 PASS . . . . . . . . . . . . . . . . 0.5487805 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.209 . @ . . . . . 1 0.370 . . 164.0 . . . . . . . . . . -0.5256 -0.451 -0.526 c . . . . . 1.579e-05 . . . . . . . . . . . 0 1.995e-05 0 0 0 3.797e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.239 . . exonic exonic exonic . . 0.376 @ . . . . . . ENSG00000186792 HYAL3 HYAL3 . . . 1.000 0.439 . . . . . . . Uncertain_significance . 0 . 0.111 . . . . T 0.104 0.004 . . 37 . 0.205 . . 0.179 . . . 0.336 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.342 . . 0 0 0 0 0 0 . 0.167 . . 0.127 . . . . . . 11 0.082 . . . . . 0.202 . 0.107 . HET 0.15 rs782617634 . . . . . . . . . . . . VI.64 . . V.26 III.38 . 0.190000 . . . . . . 0.190 . . III.38 0 1.241e-05 0 0 0 0 2.746e-05 0 0 . . . . . . . . . . 0.495 . 1.146 1.146000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.288 0.035 . 0.118 . 0.669 1.146 0.069 . . . . . 1 1538 10 1/0 0,240,251 +rs782617634 3 50332357 G A - NAT6 30252 N-acetyltransferase 6 (GCN5-related) NM_012191.3 -1 1335 927 NP_036323.2 substitution downstream GRCh37 50332357 50332357 Chr3(GRCh37):g.50332357G>A *1677 *1677 NM_012191.3:c.*1677C>T p.? p.? 2 607073 2602 3' 71.2483 5.08292 0.293043 2.27291 71.2483 5.08292 0.293043 2.27291 0 rs782617634 yes no Frequency 1 G 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000027 3 0 0 0 0 0 3 0 0 241780 15278 33266 9406 17224 30006 109256 21966 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes transition C T C>T 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.5487805 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.209 . @ . . . . . 1 0.370 . . 164.0 . . . . . . . . . . -0.5256 -0.451 -0.526 c . . . . . 1.579e-05 . . . . . . . . . . . 0 1.995e-05 0 0 0 3.797e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.239 . . exonic exonic exonic . . 0.376 @ . . . . . . ENSG00000186792 HYAL3 HYAL3 . . . 1.000 0.439 . . . . . . . Uncertain_significance . 0 . 0.111 . . . . T 0.104 0.004 . . 37 . 0.205 . . 0.179 . . . 0.336 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.342 . . 0 0 0 0 0 0 . 0.167 . . 0.127 . . . . . . 11 0.082 . . . . . 0.202 . 0.107 . HET 0.15 rs782617634 . . . . . . . . . . . . VI.64 . . V.26 III.38 . 0.190000 . . . . . . 0.190 . . III.38 0 1.241e-05 0 0 0 0 2.746e-05 0 0 . . . . . . . . . . 0.495 . 1.146 1.146000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.288 0.035 . 0.118 . 0.669 1.146 0.069 . . . . . 1 1538 10 1/0 0,240,251 +rs150385433 (chr3:51458204 G/A) 3 51458204 G A Not on a known gene +rs749860780 3 52559171 G C - NT5DC2 25717 5'-nucleotidase domain containing 2 NM_001134231.1 -1 1815 1674 NP_001127703.1 substitution intron GRCh37 52559171 52559171 Chr3(GRCh37):g.52559171G>C 1207-52 1207-52 NM_001134231.1:c.1207-52C>G p.? p.? 12 11 -52 3' 73.7399 7.73982 0.109984 VII.53 73.7399 7.73982 0.109984 7.51912 0 rs749860780 yes no Frequency 1 G 0.000000 0 0.000663 0.006995 0.000688 0.000238 0.000000 0.000000 0.000156 0.000097 0.000000 0.006995 71 50 12 1 0 0 7 1 0 107018 7148 17436 4210 9296 10776 44976 10314 2862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 50 12 1 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.286 212 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.4504 . . . . . . . . 1.308e-03 . . . 0.0476 0.0054 0.02 0 0 0 0 0 0.0472 0.0043 0.0208 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000168268 NT5DC2 NT5DC2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs749860780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0005 0.0007 0.0002 0 0.0001 0.0002 0 0 0.0072 0.0014 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749860780 3 52559171 G C - STAB1 18628 Stabilin 1 NM_015136.2 1 7926 7713 NP_055951.2 Q9NY15 substitution downstream GRCh37 52559171 52559171 Chr3(GRCh37):g.52559171G>C *799 *799 NM_015136.2:c.*799G>C p.? p.? 69 608560 856 3' 81.9824 8.62695 0.866726 10.524 81.9824 8.62695 0.866726 10.524 0 rs749860780 yes no Frequency 1 G 0.000000 0 0.000663 0.006995 0.000688 0.000238 0.000000 0.000000 0.000156 0.000097 0.000000 0.006995 71 50 12 1 0 0 7 1 0 107018 7148 17436 4210 9296 10776 44976 10314 2862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 50 12 1 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 0.286 212 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.4504 . . . . . . . . 1.308e-03 . . . 0.0476 0.0054 0.02 0 0 0 0 0 0.0472 0.0043 0.0208 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000168268 NT5DC2 NT5DC2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs749860780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0005 0.0007 0.0002 0 0.0001 0.0002 0 0 0.0072 0.0014 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs766176768 3 52623286 T A - PBRM1 30064 Polybromo 1 ENST00000296302.8 -1 5145 5070 ENSP00000296302 Q86U86 substitution intron GRCh37 52623286 52623286 Chr3(GRCh37):g.52623286T>A 2780-15 2780-15 ENST00000296302.8:c.2780-15A>T p.? p.? 18 17 606083 -15 3' 82.7069 2.1321 0.43761 8.12007 82.7069 2.66875 0.731277 9.97165 0.30759 Cryptic Acceptor Strongly Activated 52623271 2.1321 0.43761 82.7069 2.66875 0.731277 82.7069 52623286 -69.238 transversion A T A>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||PBRM1|mRNA|CODING|NM_018313|) . . . . . . . -0.1918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000163939 PBRM1 PBRM1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs550157613 3 52886559 C T - TMEM110 30526 Transmembrane protein 110 NM_198563.2 -1 4754 885 NP_940965.1 Q86TL2 substitution intron GRCh37 52886559 52886559 Chr3(GRCh37):g.52886559C>T 305+60 305+60 NM_198563.2:c.305+60G>A p.? p.? 3 3 617189 60 5' 78.1641 8.59132 0.961031 4.47951 78.1641 8.59132 0.961031 4.31402 0 rs550157613 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000387 0.000000 0.000000 0.009934 0.000000 0.000000 0.000600 0.000000 0.000000 0.009934 12 0 0 3 0 0 9 0 0 30970 8728 838 302 1622 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 3 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -0.602 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.42307693 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 64 0.000984979 64976 63 0.00105025 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550157613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0.0099 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs550157613 3 52886559 C T - TMEM110-MUSTN1 38834 TMEM110-MUSTN1 readthrough NM_001198974.2 -1 1459 1119 NP_001185903.2 substitution intron GRCh37 52886559 52886559 Chr3(GRCh37):g.52886559C>T 305+60 305+60 NM_001198974.2:c.305+60G>A p.? p.? 3 3 60 5' 78.1641 8.59132 0.961031 4.47951 78.1641 8.59132 0.961031 4.31402 0 rs550157613 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000387 0.000000 0.000000 0.009934 0.000000 0.000000 0.000600 0.000000 0.000000 0.009934 12 0 0 3 0 0 9 0 0 30970 8728 838 302 1622 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 3 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -0.602 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.42307693 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 64 0.000984979 64976 63 0.00105025 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550157613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0.0099 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs372629606 3 53221314 C T - PRKCD 9399 Protein kinase C delta NM_001354676.1 1 2656 2088 NP_001341605.1 substitution intron GRCh37 53221314 53221314 Chr3(GRCh37):g.53221314C>T 1410-42 1410-42 NM_001354676.1:c.1410-42C>T p.? p.? 14 13 176977 -42 3' 88.6341 9.64087 0.928594 10.1583 88.6341 9.64087 0.928594 X.32 0 rs372629606 yes no Frequency 1 C 0.000000 0 0.000097 0.000083 0.000058 0.000000 0.000000 0.000000 0.000182 0.000000 0.000000 0.000182 27 2 2 0 0 0 23 0 0 277144 24024 34420 10150 18866 30780 126648 25792 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 2 2 0 0 0 23 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4405 13005 0 1 1 0 0.000226963 7.68876e-05 0 0.000226963 7.68876e-05 80 transition C T C>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.47252747 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.1812 . . . . . . . . 1.184e-04 . . . 9.636e-05 0.0001 8.648e-05 0 0 0.0002 0 0 0 9.417e-05 8.917e-05 0 0 0.0002 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.35 182 ENSG00000163932 PRKCD PRKCD . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 6.537e-05 0.0001 5.956e-05 0 0 0 0.0002 0 0 0.0001 3.231e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs372629606 rs372629606 1 1538 10 1/0 0,255,255 +rs34974961 3 53853009 T C - CHDH 24288 Choline dehydrogenase NM_018397.4 -1 3706 1785 NP_060867.2 Q8NE62 substitution missense exon GRCh37 53853009 53853009 Chr3(GRCh37):g.53853009T>C 1322 1322 NM_018397.4:c.1322A>G p.Asn441Ser p.Asn441Ser 8 -45 5' 76.822 8.17044 0.925223 6.48965 76.822 8.17044 0.925223 6.14717 0 Glucose-methanol-choline oxidoreductase, C-terminal Glucose-methanol-choline oxidoreductase rs34974961 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.001000 0.000000 0.009900 0.010100 0.007115 0.001956 0.009966 0.001675 0.000000 0.002307 0.010626 0.002870 0.011448 0.010626 1972 47 343 17 0 71 1346 74 74 277156 24024 34416 10150 18868 30780 126670 25784 6464 0.000144 0.000000 0.000174 0.000000 0.000000 0.000065 0.000205 0.000000 0.000928 20 0 3 0 0 1 13 0 3 1932 47 337 17 0 69 1320 74 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8496 4395 12891 104 11 115 0.012093 0.0024966 0.00884207 0.012093 0.0024966 0.00884207 188 transition A G A>G 1.000 2.385 N Asn AAT 0.464 S Ser AGT 0.149 441 20 11 Fruitfly 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.11 III.48 255 PASS . 0.0037 0.01 . 0.004 . 0.0036 0.01 . 0.0099 0.001 ENSG00000016391:ENST00000315251:exon8:c.A1322G:p.N441S CHDH:uc003dgz.3:exon8:c.A1322G:p.N441S CHDH:NM_018397:exon8:c.A1322G:p.N441S . . 0.44444445 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.395 . @ . . . . . 1 0.521 . . 99.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N441S|CHDH|mRNA|CODING|NM_018397|NM_018397.ex.8) 0.0025 0.0088 0.012 0.0025 0.0088 0.012 . -0.2794 -0.081 -0.279 c . . . . . 6.448e-03 . . . 0.0016 0.0070 0.0089 0 0.0021 0.0111 0.0112 0.0019 0.0014 0.0062 0.0088 0 0.0027 0.0091 0.0072 0.0019 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . 0.570 0.0036 . . . 0.45 0.51 182 ENSG00000016391 CHDH CHDH . . . 1.000 0.747 . 862 0.0132664 64976 845 0.0140866 59986 Uncertain_significance . 0 . 0.418 . . . . . . . . . 37 . 0.227 . . 0.195 . . . 0.357 0.353 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.156 . . 0.230 . . . . . . 0 0.437 . . . . . 0.345 . 0.001 . HET 0.02 rs34974961 . . . . . . . 0.003663003663003663 0.0 0.013812154696132596 0.0 0.00395778364116095 VIII.75 0.002675 ENST00000315251 V.78 IV.63 . 0.010000 Q8NE62 . . . 0.008842 . 0.534 . . IV.63 0.0016 0.0073 0.0101 0.0017 0 0.0030 0.0109 0.0126 0.0023 0.0026 0.0053 0.0048 0 0 0.0020 0.0083 0.0051 . . 0.730 . 1.032 1.032000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.494 0.901 . 0.677 . 0.236 1.032 0.991 0.012 rs34974961 rs34974961 rs34974961 rs34974961 1 1538 10 1/0 0,255,255 +rs79160483 3 54420721 G T - CACNA2D3 15460 Calcium channel, voltage-dependent, alpha 2/delta subunit 3 NM_018398.2 1 3675 3276 NP_060868.2 Q8IZS8 substitution intron GRCh37 54420721 54420721 Chr3(GRCh37):g.54420721G>T 322-21 322-21 NM_018398.2:c.322-21G>T p.? p.? 4 3 606399 -21 3' 88.0648 XI.36 0.996017 13.0621 88.0648 XI.36 0.996645 13.7554 0.00021017 rs79160483 no no 0 G 0.000000 0 transversion G T G>T 0.858 -0.198 190 PASS . . . . . . . . . . . . . . . . 0.13513513 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||CACNA2D3|mRNA|CODING|NM_018398|) . . . . . . . 0.4578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.28 182 ENSG00000157445 CACNA2D3 CACNA2D3 . . . . . . 82 0.001262 64976 82 0.00136699 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs79160483 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv517851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . rs79160483 rs79160483 1 1538 10 1.I 0,0,0 +rs73079892 3 56591298 T A - CCDC66 27709 Coiled-coil domain containing 66 NM_001353147.1 1 3171 2865 NP_001340076.1 substitution intron GRCh37 56591298 56591298 Chr3(GRCh37):g.56591298T>A 11+17 11+17 NM_001353147.1:c.11+17T>A p.? p.? 1 1 17 5' 82.206 7.78959 0.993799 4.60572 82.206 7.78959 0.993799 4.50263 0 rs73079892 yes no Frequency/1000G 2 0.000000 0 0.000059 0.000065 0.000000 0.000000 0.000265 0.000136 0.000045 0.000000 0.000000 0.000265 10 1 0 0 3 3 3 0 0 169710 15446 23900 8208 11318 22126 66888 17254 4570 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 1 0 0 3 3 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.039 -0.037 229 PASS 0.23 0.2 0.18 0.13 0.24 . . . . . . . . . . . 0.23888889 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . 0.8536 . . . . . . . . 1.542e-03 . . . 0 5.233e-05 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.39 182 ENSG00000180376 CCDC66 CCDC66 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73079892 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv876817 . . . . . . 0 6.405e-05 0 0 0.0003 0 5.687e-05 0 0.0001 0.0001 3.426e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . 0.24 . rs73079892 rs73079892 rs73079892 1 1538 10 1/0 0,213,255 +rs144848139 3 56655621 A G - CCDC66 27709 Coiled-coil domain containing 66 NM_001353147.1 1 3171 2865 NP_001340076.1 substitution missense exon GRCh37 56655621 56655621 Chr3(GRCh37):g.56655621A>G 2840 2840 NM_001353147.1:c.2840A>G p.Glu947Gly p.Glu947Gly 18 62 3' 79.5921 4.70246 0.499339 0 79.5921 4.70246 0.499339 0 0 rs144848139 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001870 0.000629 0.001080 0.002134 0.000000 0.000680 0.003179 0.000078 0.002252 0.003179 501 15 34 21 0 19 396 2 14 267910 23840 31480 9842 18360 27942 124578 25650 6218 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 495 15 34 21 0 19 390 2 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4401 12966 35 5 40 0.00406977 0.00113482 0.0030755 0.00406977 0.00113482 0.0030755 128 transition A G A>G 1.000 1.820 E Glu GAA 0.417 G Gly GGA 0.246 947 12 9 Chicken -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Deleterious 0 III.69 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 . . . . . 0.42307693 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.568 . @ . . . . . 1 0.956 . . 52.0 . . . 0.0011 0.0031 0.0041 0.0011 0.0031 0.0041 . 0.6019 0.560 0.602 c . . . . . 1.879e-03 . . . 0.0009 0.0019 0.0010 0 0.0003 0.0033 0.0014 0.0009 0.0010 0.0018 0.0011 0 0.0002 0.0029 0.0014 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.769 0.0006 . . . 0.43 0.55 182 ENSG00000180376 CCDC66 CCDC66 . . . 0.352 0.197 . 178 0.00273947 64976 175 0.00291735 59986 Uncertain_significance . 0 . 0.111 . . . . T 0.436 0.021 . . 37 . 0.556 . . 0.523 . . . 0.618 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.480 . . 0 0 0 0 0 0 . 0.629 . . 0.662 . . . . . . 0 0.654 . . . . . 0.451 . 0.520 . HET 0 rs144848139 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 X.33 0.00107 . V.37 V.37 . 0.010000 A2RUB6 . . Name\x3dnsv460557 0.003076 . 0.839 . . V.37 0.0007 0.0019 0.0010 0.0019 0 4.513e-05 0.0032 0.0025 0.0007 0.0005 0.0018 0.0036 0.0099 0 0.0003 0.0029 0.0010 . . 0.924 . 2.155 2.155000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.663 . 0.960 2.155 1.062 0.0041 . . rs144848139 rs144848139 1 1538 10 1/0 0,255,255 +rs144848139 3 56655621 A G - FAM208A 30314 Family with sequence similarity 208, member A NM_001112736.1 -1 8296 4539 NP_001106207.1 substitution 3'UTR GRCh37 56655621 56655621 Chr3(GRCh37):g.56655621A>G *2195 *2195 NM_001112736.1:c.*2195T>C p.? p.? 24 616493 2251 3' 69.9839 3.84484 0.114302 0 69.9839 3.84484 0.114302 0 0 rs144848139 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001870 0.000629 0.001080 0.002134 0.000000 0.000680 0.003179 0.000078 0.002252 0.003179 501 15 34 21 0 19 396 2 14 267910 23840 31480 9842 18360 27942 124578 25650 6218 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 495 15 34 21 0 19 390 2 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4401 12966 35 5 40 0.00406977 0.00113482 0.0030755 0.00406977 0.00113482 0.0030755 128 transition T C T>C 1.000 1.820 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 . . . . . 0.42307693 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.568 . @ . . . . . 1 0.956 . . 52.0 . . . 0.0011 0.0031 0.0041 0.0011 0.0031 0.0041 . 0.6019 0.560 0.602 c . . . . . 1.879e-03 . . . 0.0009 0.0019 0.0010 0 0.0003 0.0033 0.0014 0.0009 0.0010 0.0018 0.0011 0 0.0002 0.0029 0.0014 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.769 0.0006 . . . 0.43 0.55 182 ENSG00000180376 CCDC66 CCDC66 . . . 0.352 0.197 . 178 0.00273947 64976 175 0.00291735 59986 Uncertain_significance . 0 . 0.111 . . . . T 0.436 0.021 . . 37 . 0.556 . . 0.523 . . . 0.618 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.480 . . 0 0 0 0 0 0 . 0.629 . . 0.662 . . . . . . 0 0.654 . . . . . 0.451 . 0.520 . HET 0 rs144848139 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 X.33 0.00107 . V.37 V.37 . 0.010000 A2RUB6 . . Name\x3dnsv460557 0.003076 . 0.839 . . V.37 0.0007 0.0019 0.0010 0.0019 0 4.513e-05 0.0032 0.0025 0.0007 0.0005 0.0018 0.0036 0.0099 0 0.0003 0.0029 0.0010 . . 0.924 . 2.155 2.155000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.663 . 0.960 2.155 1.062 0.0041 . . rs144848139 rs144848139 1 1538 10 1/0 0,255,255 +. 3 58395497 T TTG - PXK 23326 PX domain containing serine/threonine kinase like NM_001349492.1 1 3037 1746 NP_001336421.1 insertion intron GRCh37 58395497 58395498 Chr3(GRCh37):g.58395497_58395498insTG 1395+152 1395+153 NM_001349492.1:c.1395+152_1395+153insTG p.? p.? 15 15 611450 152 5' 93.9148 X.81 0.998884 5.10893 93.9148 X.81 0.998884 5.10893 0 rs34721541 no no 0 0.000000 0 0.000956 0.000519 0.000000 0.000000 0.000000 0.000000 0.001372 0.000000 0.007813 0.001372 4 1 0 0 0 0 2 0 1 4182 1928 142 28 114 0 1458 384 128 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 297 Genomes TG 255 Pass . . . . . . . . . . . . . . . . 0.89361703 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000168297 PXK PXK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs34721541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0010 0 0 0 0 0.0014 0.0078 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs34721541 rs34721541 1 1538 10 1.I 0,4,5 +rs74477836 3 58395501 G A - PXK 23326 PX domain containing serine/threonine kinase like NM_001349492.1 1 3037 1746 NP_001336421.1 substitution intron GRCh37 58395501 58395501 Chr3(GRCh37):g.58395501G>A 1395+156 1395+156 NM_001349492.1:c.1395+156G>A p.? p.? 15 15 611450 156 5' 93.9148 X.81 0.998884 5.10893 93.9148 X.81 0.998884 5.10893 0 rs74477836 no no 0 G 0.000000 0 0.000035 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000118 1 1 0 0 0 0 0 0 0 28642 8508 784 246 1596 0 13508 3146 854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition G A G>A 0.031 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.8490566 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.6367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.21 182 ENSG00000168297 PXK PXK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74477836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.491e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74477836 rs74477836 1 1538 10 1/0 0,255,255 +. 3 62355667 T TT - FEZF2 13506 FEZ family zinc finger 2 NM_018008.3 -1 2086 1380 NP_060478.3 Q8TBJ5 duplication 3'UTR GRCh37 62355666 62355667 Chr3(GRCh37):g.62355667dup *91 *91 NM_018008.3:c.*91dup p.? p.? 5 607414 351 3' 83.8285 9.00067 0.913681 VIII.19 83.8285 9.00067 0.913681 VIII.19 0 rs3215030 yes no Frequency/1000G 2 0.000000 0 0.358446 0.132373 0.487685 0.422819 0.422886 0.000000 0.455685 0.429804 0.420668 0.487685 10924 1149 396 126 680 0 6725 1445 403 30476 8680 812 298 1608 0 14758 3362 958 0.201208 0.062663 0.242424 0.222222 0.195588 0.000000 0.222156 0.204152 0.198511 2198 72 96 28 133 0 1494 295 80 6523 1004 203 70 413 0 3735 855 243 0 0 0 0 0 0 0 0 0 PASS 42 Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.95348835 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . UTR_3_PRIME(MODIFIER||||FEZF2|mRNA|CODING|NM_018008|NM_018008.ex.5) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000153266 FEZF2 FEZF2 . . NM_018008:c.*90_*91insA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs147327086 3 69047210 G A - EOGT 28526 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase NM_001278689.1 -1 4666 1584 NP_001265618.1 Q5NDL2 substitution synonymous exon GRCh37 69047210 69047210 Chr3(GRCh37):g.69047210G>A 783 783 NM_001278689.1:c.783C>T p.His261= p.His261His 10 614789 -49 5' 77.468 X.54 0.935197 0 77.468 X.54 0.935197 0 0 Glycosyltransferase AER61, uncharacterised rs147327086 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.002396 0.000000 0.007200 0.000000 0.004000 0.001400 0.004449 0.001098 0.002619 0.001699 0.000055 0.013525 0.005034 0.001207 0.003876 0.013525 1194 26 82 17 1 385 628 31 24 268370 23678 31308 10008 18294 28466 124746 25678 6192 0.000030 0.000000 0.000000 0.000000 0.000000 0.000281 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 1186 26 82 17 1 377 628 31 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8563 4406 12969 37 0 37 0.00430233 0 0.00284484 0.00430233 0 0.00284484 151 RCV000421563.1 germline clinical testing Likely benign 1 not provided COSM1243133 Oesophagus 0.000712 1405 transition C T C>T 0.480 0.205 H His CAC 0.587 H His CAT 0.413 261 255 PASS . 0.0014 . . 0.004 . 0.0024 0.0014 . 0.004 0.0072 . . . . . 0.42647058 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . 0.0028 0.0043 . 0.0028 0.0043 . 0.5554 . . . . . . . . 5.146e-03 . . . 0.0007 0.0062 0.0037 0.0002 0.0011 0.0060 0.0042 0.0150 0.0006 0.0054 0.0037 0.0001 0.0012 0.0050 0.0029 0.0151 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.35 0.24 182 ENSG00000163378 EOGT EOGT . . . . . . 338 0.00520192 64976 326 0.0054346 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs147327086 . . . . . . ID\x3dCOSM1243133\x3bOCCURENCE\x3d1(oesophagus) . . . . . . . . . . . . . . . . 0.002845 . . . . . 0.0011 0.0046 0.0025 0.0015 5.998e-05 0.0013 0.0051 0.0035 0.0135 0.0010 0.0030 0.0072 0.0066 0 0.0009 0.0044 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0043 . . rs147327086 rs147327086 1 1538 10 1/0 0,255,255 +rs373843012 3 71247032 A G - FOXP1 3823 Forkhead box P1 NM_001244810.1 -1 7141 2082 NP_001231739.1 substitution intron GRCh37 71247032 71247032 Chr3(GRCh37):g.71247032A>G 180+321 180+321 NM_001244810.1:c.180+321T>C p.? p.? 6 6 605515 321 5' 71.8032 9.04236 0.87748 XI.58 71.8032 9.04236 0.87748 XI.58 0 rs373843012 yes no Frequency 1 A 0.000000 0 0.000404 0.000208 0.000087 0.000000 0.000000 0.000357 0.000727 0.000000 0.000155 0.000727 112 5 3 0 0 11 92 0 1 277088 24004 34416 10150 18868 30776 126622 25788 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 5 3 0 0 11 92 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4400 12993 7 2 9 0.000813953 0.000454339 0.000692201 0.000813953 0.000454339 0.000692201 33 transition T C T>C 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.4814815 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . 0.0005 0.0007 0.0008 0.0005 0.0007 0.0008 . -0.0432 . . . . . . . . 4.104e-04 . . . 0.0004 0.0004 0 0 0 0.0005 0 0.0004 0.0005 0.0004 0 0 0 0.0007 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.17 182 ENSG00000114861 FOXP1 FOXP1 . . . . . . 31 0.000477099 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs373843012 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834728 0.000692 . . . . . 0.0003 0.0004 8.934e-05 0 0 0 0.0008 0.0002 0.0004 0.0001 0.0003 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs373843012 rs373843012 1 1538 10 1/0 0,255,255 +rs201069681 3 75680011 G T - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680011 75680011 Chr3(GRCh37):g.75680011G>T *2 *2 NR_031714.1:n.*2G>T p.? p.? 1 rs201069681 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000086 0.000012 0.000000 0.000000 0.000086 3 0 0 0 0 2 1 0 0 190012 11020 28672 7448 15208 23274 81566 18446 4378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 RF 105 Exomes transversion G T G>T 0.843 0.044 202 PASS . . . . . . . . . . . . . . . . 0.16284153 . . @ 149 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 915.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2916 . . . . . . . . 1.626e-05 . . . 0 3.073e-05 0 0 0 0 0 0.0002 0 2.667e-05 0 0 0 0 0 0.0002 . . . . . . downstream downstream downstream . . . @ . . . 0.53 0.17 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201069681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.579e-05 0 0 0 0 1.226e-05 0 8.593e-05 . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,136,230 +rs796656371 3 75680035 G C - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680035 75680035 Chr3(GRCh37):g.75680035G>C *26 *26 NR_031714.1:n.*26G>C p.? p.? 1 rs796656371 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30400 8704 834 286 1620 0 14490 3494 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 104 Genomes transversion G C G>C 0.331 -0.844 198 PASS . . . . . . . . . . . . . . . . 0.15331355 . . @ 155 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1011.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.1822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.5 0.17 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,131,231 +rs112556087 3 75680037 G T - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680037 75680037 Chr3(GRCh37):g.75680037G>T *28 *28 NR_031714.1:n.*28G>T p.? p.? 1 rs112556087 no no 0 G 0.000000 0 transversion G T G>T 0.374 -0.763 219 PASS . . . . . . . . . . . . . . . . 0.209 . . @ 209 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1000.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.1906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.51 0.24 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112556087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . rs112556087 rs112556087 1 1538 10 1/0 0,137,216 +rs796388336 3 75680044 C T - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680044 75680044 Chr3(GRCh37):g.75680044C>T *35 *35 NR_031714.1:n.*35C>T p.? p.? 1 rs796388336 no no 0 C 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000295 0.000000 0.000000 0.000000 0.000295 2 0 0 0 0 2 0 0 0 73514 6108 11230 1718 7992 6770 27330 10548 1818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 175 Exomes transition C T C>T 0.697 1.013 201 PASS . . . . . . . . . . . . . . . . 0.16093117 . . @ 159 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 988.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.1953 . . . . . . . . 1.381e-05 . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.721e-05 0 0 0 0 0 0 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,133,233 +rs112737384 3 75680045 A G - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680045 75680045 Chr3(GRCh37):g.75680045A>G *36 *36 NR_031714.1:n.*36A>G p.? p.? 1 rs112737384 yes no Frequency 1 A 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000309 0.000000 0.000000 0.000000 0.000309 2 0 0 0 0 2 0 0 0 102282 14766 11972 1826 9514 6468 41108 13894 2734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.705 0.851 255 PASS . . . . . . . . . . . . . . . . 0.36616915 . . @ 368 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1005.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.1884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.51 0.28 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112737384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.781e-05 0 0 0 0 0 0 0.0003 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112737384 rs112737384 1 1538 10 1/0 0,151,194 +rs201219779 3 75680067 A G - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680067 75680067 Chr3(GRCh37):g.75680067A>G *58 *58 NR_031714.1:n.*58A>G p.? p.? 1 rs201219779 no no 0 A 0.000000 0 transition A G A>G 0.992 0.205 196 PASS . . . . . . . . . . . . . . . . 0.1480709 . . @ 142 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 959.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.45 0.24 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201219779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs201219779 rs201219779 1 1538 10 1/0 0,133,242 +rs202061161 3 75680073 G A - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680073 75680073 Chr3(GRCh37):g.75680073G>A *64 *64 NR_031714.1:n.*64G>A p.? p.? 1 rs202061161 no no 0 G 0.000000 0 transition G A G>A 0.992 1.255 191 PASS . . . . . . . . . . . . . . . . 0.13751264 . . @ 136 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 989.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.46 0.18 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs202061161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . rs202061161 rs202061161 1 1538 10 1/0 0,131,244 +. 3 75680098 GCCCTTGCCTAG G - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 deletion downstream GRCh37 75680099 75680109 Chr3(GRCh37):g.75680099_75680109del *90 *100 NR_031714.1:n.*90_*100del p.? p.? 1 CCCTTGCCTAG 255 Pass . . . . . . . . . . . . . . . . 0.1785235 . . . 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 745 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . . . . . . . . ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,75 +. 3 75680105 C T - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680105 75680105 Chr3(GRCh37):g.75680105C>T *96 *96 NR_031714.1:n.*96C>T p.? p.? 1 transition C T C>T 0.016 1.255 184 PASS . . . . . . . . . . . . . . . . 0.110363394 . . @ 82 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 743.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,255 +rs112305599 3 75680126 T C - MIR1324 35377 MicroRNA 1324 NR_031714.1 1 96 0 substitution downstream GRCh37 75680126 75680126 Chr3(GRCh37):g.75680126T>C *117 *117 NR_031714.1:n.*117T>C p.? p.? 1 rs112305599 no no 0 T 0.000000 0 transition T C T>C 0.102 -0.037 229 PASS . . . . . . . . . . . . . . . . 0.23757765 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 644.0 . . DOWNSTREAM(MODIFIER||||MIR1324|Non-coding_transcript|NON_CODING|NR_031714|) . . . . . . . -0.2431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.49 0.2 182 ENSG00000221795 MIR1324 MIR1324 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112305599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs112305599 rs112305599 1 1538 10 1/0 0,159,251 +. 3 75713466 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution 5'UTR GRCh37 75713466 75713466 Chr3(GRCh37):g.75713466A>G -65 -65 NM_001124759.3:c.-65A>G p.? p.? 1 -243 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 Cryptic Donor Strongly Activated 75713461 1.01007 0.007779 62.7735 5.05947 0.132856 74.9251 transition A G A>G 0.114 0.448 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . -0.2562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.74 0.36 182 ENSG00000172969 FLJ20518 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138624694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75373381 rs138624694 1 1538 10 1/0 0,255,255 +rs73840313 3 75713472 C A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution 5'UTR GRCh37 75713472 75713472 Chr3(GRCh37):g.75713472C>A -59 -59 NM_001124759.3:c.-59C>A p.? p.? 1 -237 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs73840313 no no 0 C 0.000000 0 transversion C A C>A 0.012 -2.619 255 PASS . . . . . . . . . . . . . . . . 0.48 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . -0.7342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.73 0.39 182 ENSG00000172969 FLJ20518 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73840313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73840313 rs73840313 rs144840588 1 1538 10 1/0 0,255,255 +rs73840316 3 75713496 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution 5'UTR GRCh37 75713496 75713496 Chr3(GRCh37):g.75713496A>G -35 -35 NM_001124759.3:c.-35A>G p.? p.? 1 -213 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs73840316 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -2.377 255 PASS . . . . . . . . . . . . . . . . 0.4915254 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 59.0 . . . . . . . . . . -0.8679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 ncRNA_exonic . . . @ . . . 0.74 0.57 182 ENSG00000172969 FLJ20518 FRG2EP . uc003dpt.4:c.-35A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73840316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73840316 rs73840316 rs140301518 1 1538 10 1/0 0,255,255 +rs80271626 3 75713507 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution 5'UTR GRCh37 75713507 75713507 Chr3(GRCh37):g.75713507C>T -24 -24 NM_001124759.3:c.-24C>T p.? p.? 1 -202 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs80271626 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.000 -3.184 255 PASS . . . . . . . . . . . . . . . . 0.3442623 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -1.0978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 ncRNA_exonic . . . @ . . . 0.75 0.57 182 ENSG00000172969 FLJ20518 FRG2EP . uc003dpt.4:c.-24C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80271626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80271626 rs199666615 1 1538 10 1/0 0,255,255 +rs201766868 3 75713555 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713555 75713555 Chr3(GRCh37):g.75713555G>A 25 25 NM_001124759.3:c.25G>A p.Asp9Asn p.Asp9Asn 1 -154 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs201766868 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM4158323|COSM4158323|COSM4158323 Thyroid|Liver|Bone 0.009371|0.000844|0.001757 747|2371|569 transition G A G>A 0.000 -0.602 D Asp GAT 0.461 N Asn AAT 0.464 9 12 7 Armadillo 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.27 3.00 183 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.G25A:p.D9N FRG2C:NM_001124759:exon1:c.G25A:p.D9N . . 0.12048193 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.674 . . 83.0 . . . . . . . . . . -0.4785 -0.736 -0.479 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.363 . . exonic exonic exonic . . 0.095 @ . . . 0.39 0.21 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.739 0.232 . . . . . . . Uncertain_significance . 0 . 0.076 . . . . D 0.895 0.259 . . 37 . 0.395 . . 0.409 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.389 . . 0 0 0 0 0 0 . 0.764 . . 0.739 . . . . . . 0 0.395 . . . . . . . 0.121 . LowAF 0.05 rs201766868 0.011 0.007 . . . . . . . . . . . . . 0.517 -1.03 . 0.100000 A6NGY1 . . . . . 0.069 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -0.609 -0.609000 . . 0.100000 . . 1.0E-183 0.024 0.198 . 0.083 0.016 . 0.293 . 0.278 -0.609 0.150 0.011 rs35781983 rs35781983 rs35781983 rs201766868 1 1538 10 1/0 0,236,255 +rs199575562 3 75713561 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713561 75713561 Chr3(GRCh37):g.75713561C>T 31 31 NM_001124759.3:c.31C>T p.His11Tyr p.His11Tyr 1 -148 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 rs199575562 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.000 -0.602 H His CAC 0.587 Y Tyr TAC 0.562 11 12 6 Dog 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 1 3.00 176 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.C31T:p.H11Y FRG2C:NM_001124759:exon1:c.C31T:p.H11Y . . 0.105882354 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.306 . @ . . . . . 1 0.318 . . 85.0 . . . . . . . . . . -0.5169 -0.762 -0.517 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.095 @ . . . 0.41 0.27 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.742 0.232 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . D 0.922 0.347 . . 37 . 0.452 . . 0.305 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.651 . . 0 0 0 0 0 0 . 0.481 . . 0.612 . . . . . . 0 0.654 . . . . . . . 0.390 . LowAF 0 rs199575562 . . . . . . . . . . . . . . . 0.517 -1.03 . 0.010000 A6NGY1 . . . . . 0.055 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -0.626 -0.626000 . . 0.010000 . . 1.0E-176 0.039 0.207 . 0.090 0.018 . 0.273 . 0.062 -0.626 0.143 . . . rs199575562 rs199575562 1 1538 10 1/0 0,233,255 +rs201362708 3 75713563 C G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713563 75713563 Chr3(GRCh37):g.75713563C>G 33 33 NM_001124759.3:c.33C>G p.His11Gln p.His11Gln 1 -146 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 New Acceptor Site 75713564 0.262039 0.002743 71.9869 rs201362708 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion C G C>G 0.000 -0.602 H His CAC 0.587 Q Gln CAG 0.744 11 12 6 Dog 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.55 3.00 190 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.C33G:p.H11Q FRG2C:NM_001124759:exon1:c.C33G:p.H11Q . . 0.13636364 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.126 . @ . . . . . 1 0.160 . . 88.0 . . . . . . . . . . -0.4916 -0.748 -0.492 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.095 @ . . . 0.4 0.27 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.739 0.232 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . D 0.928 0.374 . . 37 . 0.461 . . 0.322 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.695 . . 0 0 0 0 0 0 . 0.533 . . 0.663 . . . . . . 0 0.599 . . . . . . . 0.416 . LowAF 0 rs201362708 . . . . . . . . . . . . . . . 0.517 -1.03 . 0.010000 A6NGY1 . . . . . 0.055 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -0.609 -0.609000 . . 0.010000 . . 1.0E-190 0.029 0.202 . 0.090 0.014 . 0.273 . 0.276 -0.609 0.143 . . . rs201362708 rs201362708 1 1538 10 1/0 0,234,255 +. 3 75713566 T C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75713566 75713566 Chr3(GRCh37):g.75713566T>C 36 36 NM_001124759.3:c.36T>C p.Cys12= p.Cys12Cys 1 -143 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM6279067 Liver 0.000422 2371 transition T C T>C 0.000 -1.409 C Cys TGT 0.448 C Cys TGC 0.552 12 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.T36C:p.C12C FRG2C:NM_001124759:exon1:c.T36C:p.C12C . . 0.6164383 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . . . . . . . -0.4234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.31 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116151319 0.033 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs74910647 rs116151319 1 1538 10 1/0 0,255,255 +. 3 75713618 A T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713618 75713618 Chr3(GRCh37):g.75713618A>T 88 88 NM_001124759.3:c.88A>T p.Thr30Ser p.Thr30Ser 1 -91 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XII.47 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158324|COSM4158324|COSM4158324 Thyroid|Large intestine|Bone 0.006693|0.000450|0.001757 747|2220|569 transversion A T A>T 0.000 -1.328 T Thr ACA 0.280 S Ser TCA 0.148 30 12 5 Olive baboon 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.3 III.18 226 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.A88T:p.T30S FRG2C:NM_001124759:exon1:c.A88T:p.T30S . . 0.23076923 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.025 . . 130.0 . . . . . . . . . . -1.5309 -1.582 -1.531 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.081 @ . . . 0.39 0.29 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.903 0.261 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.955 0.525 . . 37 . 0.144 . . 0.195 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.290 . . . . . 0.022 . 0.129 . HET 0.45 rs150902075 . . . . . . . . . . . . I.32 . . 0.775 -1.55 . 0.130000 A6NGY1 . . . . . 0.036 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -1.313 -1.313000 . . 0.130000 . . 1.0000000000000001E-226 0.659 0.280 . 0.074 0.038 . 0.052 . 0.084 -1.313 0.167 . . . rs78279965 rs150902075 1 1538 10 1/0 0,227,255 +rs73840317 3 75713654 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713654 75713654 Chr3(GRCh37):g.75713654G>A 124 124 NM_001124759.3:c.124G>A p.Gly42Arg p.Gly42Arg 1 -55 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 12.0958 0 rs73840317 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158326|COSM4158326|COSM4158326 Thyroid|Liver|Large intestine 0.002677|0.000422|0.000901 747|2371|2220 transition G A G>A 0.008 0.690 G Gly GGA 0.246 R Arg AGA 0.205 42 12 9 Armadillo -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 III.18 241 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.G124A:p.G42R FRG2C:NM_001124759:exon1:c.G124A:p.G42R . . 0.27586207 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.150 . . 145.0 . . . . . . . . . . -0.8571 -0.922 -0.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.176 @ . . . 0.45 0.22 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.742 0.232 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.967 0.620 . . 37 . 0.190 . . 0.248 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.748 . . 0 0 0 0 0 0 . 0.256 . . 0.292 . . . . . . 0 0.564 . . . . . 0.129 . 0.293 . HET 0.76 rs73840317 . . . . . . . . . . . . IV.52 0.0 . 0.775 0.775 . 0.020000 A6NGY1 . . . . . 0.065 . . . . . . . . . . . . . . . . . . . . . . 0.331 . 0.699 0.699000 . . 0.020000 . . 1.0E-241 0.350 0.255 . 0.043 0.155 . 0.133 . 0.059 0.699 0.150 . . rs73840317 rs73840317 rs144674412 1 1538 10 1/0 0,226,255 +. 3 75713658 AAG A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 deletion frameshift exon GRCh37 75713659 75713660 Chr3(GRCh37):g.75713659_75713660del 129 130 NM_001124759.3:c.129_130del p.Gly44Glnfs*9 p.Gly44Glnfs*9 1 -49 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 XI.02 0 COSM1425312|COSM1425312 Thyroid|Liver 0.001339|0.000422 747|2371 AG 255 Pass . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.129_130del:p.K43fs FRG2C:NM_001124759:exon1:c.129_130del:p.K43fs . . 0.14893617 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,83 +rs73840318 3 75713669 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75713669 75713669 Chr3(GRCh37):g.75713669G>A 139 139 NM_001124759.3:c.139G>A p.Ala47Thr p.Ala47Thr 1 -40 5' 94.6745 X.23 0.998757 XII.47 94.6745 X.23 0.998757 12.482 0 rs73840318 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158327|COSM4158327 Thyroid|Large intestine 0.002677|0.000901 747|2220 transition G A G>A 0.000 -1.409 A Ala GCC 0.403 T Thr ACC 0.361 47 12 4 Macaque 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.4 III.18 247 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon1:c.G139A:p.A47T FRG2C:NM_001124759:exon1:c.G139A:p.A47T . . 0.295302 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.015 . . 149.0 . . . . . . . . . . -1.6724 -1.746 -1.672 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.095 @ . . . 0.37 0.24 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.907 0.262 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.953 0.507 . . 37 . 0.121 . . 0.239 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.156 . . 0.080 . . . . . . 0 0.124 . . . . . . . 0.186 . HET 0.16 rs73840318 . . . . . . . . . . . . . 0.833333 . 0.517 -1.03 . 0.340000 A6NGY1 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.331 . -1.402 -1.402000 . . 0.340000 . . 1.0E-247 0.001 0.137 . 0.016 0.009 . 0.034 . 0.041 -1.402 0.150 . . rs73840318 rs73840318 rs142642813 1 1538 10 1/0 0,227,255 +rs12106841 3 75713858 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713858 75713858 Chr3(GRCh37):g.75713858A>G 179-112 179-112 NM_001124759.3:c.179-112A>G p.? p.? 2 1 -112 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.52664 0 Cryptic Acceptor Strongly Activated 75713871 2.03412 0.001112 69.4209 2.79929 0.001742 69.633 rs12106841 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.075 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.6484375 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.5606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.27 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114250298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs12106841 rs12106841 rs12106841 rs114250298 1 1538 10 1/0 0,255,255 +rs77194044 3 75713879 C A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713879 75713879 Chr3(GRCh37):g.75713879C>A 179-91 179-91 NM_001124759.3:c.179-91C>A p.? p.? 2 1 -91 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.52664 0 75713882 -20.2941 rs77194044 no no 0 C 0.000000 0 transversion C A C>A 0.087 0.125 224 PASS . . . . . . . . . . . . . . . . 0.22580644 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . . . . . . . . . -0.0538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.26 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77194044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs77194044 rs114606777 1 1538 10 1/0 0,220,255 +. 3 75713897 T G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713897 75713897 Chr3(GRCh37):g.75713897T>G 179-73 179-73 NM_001124759.3:c.179-73T>G p.? p.? 2 1 -73 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.15448 0 75713899 -25.7487 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.000 -1.974 221 PASS . . . . . . . . . . . . . . . . 0.2159091 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . -0.7979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.3 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201975431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs76161015 rs201975431 1 1538 10 1/0 0,214,255 +. 3 75713903 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713903 75713903 Chr3(GRCh37):g.75713903A>G 179-67 179-67 NM_001124759.3:c.179-67A>G p.? p.? 2 1 -67 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.62746 0 transition A G A>G 0.000 -1.489 192 PASS . . . . . . . . . . . . . . . . 0.1396648 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . -0.5799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.33 0.27 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs79560234 rs79560234 1 1538 10 1/0 0,205,255 +rs374465172 3 75713904 T A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713904 75713904 Chr3(GRCh37):g.75713904T>A 179-66 179-66 NM_001124759.3:c.179-66T>A p.? p.? 2 1 -66 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.39095 0 rs374465172 no no 0 T 0.000000 0 transversion T A T>A 0.000 -1.247 189 PASS . . . . . . . . . . . . . . . . 0.13297872 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . -0.5039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs374465172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs374465172 rs374465172 1 1538 10 1/0 0,202,255 +. 3 75713909 G C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713909 75713909 Chr3(GRCh37):g.75713909G>C 179-61 179-61 NM_001124759.3:c.179-61G>C p.? p.? 2 1 -61 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.22429 0 transversion G C G>C 0.008 -1.893 214 PASS . . . . . . . . . . . . . . . . 0.19689119 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 193.0 . . . . . . . . . . -0.5629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.37 0.23 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200437260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs74528535 rs200437260 1 1538 10 1/0 0,208,255 +rs6781177 3 75713948 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713948 75713948 Chr3(GRCh37):g.75713948C>T 179-22 179-22 NM_001124759.3:c.179-22C>T p.? p.? 2 1 -22 3' 85.7153 7.57341 0.298824 3.52664 85.7153 7.57341 0.298824 3.85577 0 Cryptic Donor Strongly Activated 75713942 8.70331 0.930953 86.8044 10.0326 0.994486 92.583 rs6781177 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.004 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.52803737 . . @ 113 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 214.0 . . . . . . . . . . -0.5655 . . . . . . . . 1.00 . . . . 0 . . . . . . . 0 . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.34 0.25 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116161435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs6781177 rs6781177 rs6781177 rs116161435 1 1538 10 1/0 0,232,253 +. 3 75713955 A T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713955 75713955 Chr3(GRCh37):g.75713955A>T 179-15 179-15 NM_001124759.3:c.179-15A>T p.? p.? 2 1 -15 3' 85.7153 7.57341 0.298824 3.52664 85.7153 8.69213 0.583992 4.56758 0.367339 Cryptic Acceptor Strongly Activated 75713970 7.57341 0.298824 85.7153 8.69213 0.583992 85.7153 75713955 -82.5963 transversion A T A>T 0.008 0.125 181 PASS . . . . . . . . . . . . . . . . 0.11574074 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . -0.3558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.28 0.25 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs140759213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs74458795 rs140759213 1 1538 10 1/0 0,195,255 +. 3 75713958 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75713958 75713958 Chr3(GRCh37):g.75713958C>T 179-12 179-12 NM_001124759.3:c.179-12C>T p.? p.? 2 1 -12 3' 85.7153 7.57341 0.298824 3.52664 89.0299 9.03282 0.397952 4.27652 0.1877 Cryptic Acceptor Strongly Activated 75713970 7.57341 0.298824 85.7153 9.03282 0.397952 89.0299 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.000 -0.924 206 PASS . . . . . . . . . . . . . . . . 0.17475729 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 206.0 . . . . . . . . . . -0.5914 . . . . . . . . 1.00 . . . . 0 . . . . . . . 0 . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.34 0.25 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200796097 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs78181421 rs200796097 1 1538 10 1/0 0,202,255 +rs74714110 3 75714298 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714298 75714298 Chr3(GRCh37):g.75714298A>G 278 278 NM_001124759.3:c.278A>G p.Gln93Arg p.Gln93Arg 3 22 3' 83.1486 7.70277 0.846351 8.39206 83.1486 7.70277 0.846351 8.29755 0 Cryptic Acceptor Strongly Activated 75714311 1.6e-05 1.10689 2.8e-05 65.5477 rs74714110 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM6248632 Liver 0.000422 2371 transition A G A>G 0.000 -1.974 Q Gln CAG 0.744 R Arg CGG 0.207 93 12 3 American pika 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 224.96 0.00 Tolerated 0.55 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon3:c.A278G:p.Q93R FRG2C:NM_001124759:exon3:c.A278G:p.Q93R . . 0.70098037 . . @ 143 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.028 . . 204.0 . . . . . . . . . . -1.8728 -1.915 -1.873 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.095 @ . . . 0.38 0.32 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.976 0.296 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.954 0.515 . . 37 . 0.170 . . 0.276 . . . 0.041 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.092 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.025 . . . . . . . 0.393 . HET 0.9 rs74714110 . . . . . . . . . . . . . 1.0 . 0.517 -1.03 . 0.850000 A6NGY1 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.083 . -2.018 -2.018000 . . 0.850000 . . 1.0E-255 0.182 0.239 . 0.016 0.088 . 0.028 . 0.011 -2.018 -1.219 . . . rs74714110 rs114375735 1 1538 10 1/0 0,225,220 +rs79850029 3 75714311 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714311 75714311 Chr3(GRCh37):g.75714311G>A 291 291 NM_001124759.3:c.291G>A p.Arg97= p.Arg97Arg 3 35 3' 83.1486 7.70277 0.846351 8.39206 83.1486 7.70277 0.846351 8.57187 0 rs79850029 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158331|COSM4158331|COSM4158331|COSM4158331|COSM4158331 Thyroid|Liver|Large intestine|Haematopoietic and lymphoid tissue|Bone 0.002677|0.000422|0.000450|0.000283|0.001757 747|2371|2220|3530|569 transition G A G>A 0.008 0.125 R Arg AGG 0.207 R Arg AGA 0.205 97 229 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon3:c.G291A:p.R97R FRG2C:NM_001124759:exon3:c.G291A:p.R97R . . 0.2394958 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 238.0 . . . . . . . . . . -0.0622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.27 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79850029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . rs71244677 rs71244677 rs200251808 1 1538 10 1/0 0,201,255 +rs73840323 3 75714337 T G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714337 75714337 Chr3(GRCh37):g.75714337T>G 317 317 NM_001124759.3:c.317T>G p.Ile106Ser p.Ile106Ser 3 -18 5' 72.4389 6.68312 0.801767 3.37715 72.4389 6.68312 0.801767 3.20782 0 rs73840323 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion T G T>G 0.000 -1.409 I Ile ATC 0.481 S Ser AGC 0.243 106 12 2 Chimp -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 229.27 0.00 Tolerated 0.92 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon3:c.T317G:p.I106S FRG2C:NM_001124759:exon3:c.T317G:p.I106S . . 0.72183096 . . @ 205 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.026 . . 284.0 . . . . . . . . . . -1.9527 -1.921 -1.953 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.095 @ . . . 0.42 0.35 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.910 0.263 . . . . . . . Uncertain_significance . 0 . 0.044 . . . . D 0.904 0.286 . . 37 . 0.084 . . 0.146 . . . 0.012 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.206 . HET 1 rs73840323 . . . . . . . . . . . . . 1.0 . 0.517 -1.03 . 1.000000 A6NGY1 . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.083 . -1.488 -1.488000 . . 1.000000 . . 1.0E-255 0.834 0.299 . 0.157 0.094 . 0.079 . 0.066 -1.488 -1.542 . . rs73840323 rs73840323 rs150591814 1 1538 10 1/0 0,214,210 +rs73840324 3 75714345 G T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714345 75714345 Chr3(GRCh37):g.75714345G>T 325 325 NM_001124759.3:c.325G>T p.Asp109Tyr p.Asp109Tyr 3 -10 5' 72.4389 6.68312 0.801767 3.37715 72.4389 6.68312 0.801767 2.77451 0 Cryptic Acceptor Strongly Activated 75714350 0.002796 0.764067 0.078196 76.3116 rs73840324 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158332|COSM4158332 Thyroid|Large intestine 0.001339|0.000450 747|2220 transversion G T G>T 0.000 -0.360 D Asp GAC 0.539 Y Tyr TAC 0.562 109 12 8 Armadillo -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 251.13 51.67 Tolerated 0.11 II.95 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon3:c.G325T:p.D109Y FRG2C:NM_001124759:exon3:c.G325T:p.D109Y . . 0.33691755 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.102 . @ . . . . . 1 0.304 . . 279.0 . . . . . . . . . . -0.8491 -0.971 -0.849 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.494 . . exonic exonic exonic . . 0.107 @ . . . 0.39 0.26 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.694 0.226 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.706 . . 37 . 0.350 . . 0.434 . . . 0.263 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.718 . . 0 0 0 0 0 0 . 0.288 . . 0.371 . . . . . . 0 0.491 . . . . . . . 0.440 . HET 0.05 rs73840324 . . . . . . . . . . . . . . . 0.517 -0.684 . 0.030000 A6NGY1 . . . . . 0.081 . . . . . . . . . . . . . . . . . . . . . . 0.083 . -0.331 -0.331000 . . 0.030000 . . 1.0E-255 0.948 0.327 . 0.224 0.165 . 0.293 . 0.278 -0.331 0.150 . . rs73840324 rs73840324 rs202087446 1 1538 10 1/0 0,203,245 +rs6799371 3 75714379 T G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714379 75714379 Chr3(GRCh37):g.75714379T>G 334+25 334+25 NM_001124759.3:c.334+25T>G p.? p.? 3 3 25 5' 72.4389 6.68312 0.801767 3.37715 72.4389 6.68312 0.801767 3.78888 0 rs6799371 no no 0 T 0.000000 0 transversion T G T>G 0.012 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36131388 . . @ 99 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 274.0 . . . . . . . . . . -0.2977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.36 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6799371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs6799371 rs6799371 rs6799371 rs200420482 1 1538 10 1/0 0,206,251 +rs73840325 3 75714382 G C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714382 75714382 Chr3(GRCh37):g.75714382G>C 334+28 334+28 NM_001124759.3:c.334+28G>C p.? p.? 3 3 28 5' 72.4389 6.68312 0.801767 3.37715 72.4389 6.68312 0.801767 3.39946 0 rs73840325 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G C G>C 0.004 -4.153 129 PASS . . . . . . . . . . . . . . . . 0.30960855 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 281.0 . . . . . . . . . . -1.3017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.47 0.31 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73840325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . . rs73840325 rs73840325 rs115500709 1 1538 10 1/0 0,218,255 +rs79797113 3 75714608 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714608 75714608 Chr3(GRCh37):g.75714608C>T 335-70 335-70 NM_001124759.3:c.335-70C>T p.? p.? 4 3 -70 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.73 0 Cryptic Acceptor Weakly Activated 75714613 2.63349 0.155348 72.5314 2.01798 0.317013 76.077 rs79797113 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.004 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.3243243 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 296.0 . . . . . . . . . . -0.4011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.31 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79797113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79797113 rs139886235 1 1538 10 1/0 0,198,235 +rs75484772 3 75714648 T G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714648 75714648 Chr3(GRCh37):g.75714648T>G 335-30 335-30 NM_001124759.3:c.335-30T>G p.? p.? 4 3 -30 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XI.88 0 rs75484772 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion T G T>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 425.0 . . . . . . . . . . -0.3693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.33 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75484772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75484772 rs200226200 1 1538 10 1/0 0,185,218 +rs77035831 3 75714663 A C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution intron GRCh37 75714663 75714663 Chr3(GRCh37):g.75714663A>C 335-15 335-15 NM_001124759.3:c.335-15A>C p.? p.? 4 3 -15 3' 96.6549 X.77 0.988962 XII.66 96.6549 XI.87 0.992388 13.7399 0.0304842 75714663 -65.8583 rs77035831 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.38075313 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 478.0 . . . . . . . . . . -0.4544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.3 182 ENSG00000172969 FLJ20518 FRG2EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77035831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77035831 rs201520992 1 1538 10 1/0 0,182,211 +rs62247157 3 75714702 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714702 75714702 Chr3(GRCh37):g.75714702A>G 359 359 NM_001124759.3:c.359A>G p.Asn120Ser p.Asn120Ser 4 25 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 12.237 0 rs62247157 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition A G A>G 0.000 -1.974 N Asn AAC 0.536 S Ser AGC 0.243 120 12 3 Macaque 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 46.24 0.00 Tolerated 1 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.A359G:p.N120S FRG2C:NM_001124759:exon4:c.A359G:p.N120S . . 0.712204 . . @ 391 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.017 . . 549.0 . . . . . . . . . . -2.1669 -2.186 -2.167 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.243 . . exonic exonic exonic . . 0.095 @ . . . 0.47 0.35 182 ENSG00000172969 FLJ20518 FRG2C . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.951 0.498 . . 37 . 0.053 . . 0.196 . . . 0.010 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.035 . HET 1 rs62247157 . . . . . . . . . . . . . . . 0.517 -1.03 . 1.000000 A6NGY1 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.052 . -2.018 -2.018000 . . 1.000000 . . 1.0E-255 0.001 0.137 . 0.043 0.055 . 0.048 . 0.065 -2.018 -1.219 . rs62247157 rs62247157 rs62247157 rs150428518 1 1538 10 1/0 0,185,181 +. 3 75714709 G T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714709 75714709 Chr3(GRCh37):g.75714709G>T 366 366 NM_001124759.3:c.366G>T p.Thr122= p.Thr122Thr 4 32 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 11.697 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158333|COSM4158333|COSM4158333|COSM4158333 Thyroid|Liver|Large intestine|Haematopoietic and lymphoid tissue 0.002677|0.000844|0.000901|0.001133 747|2371|2220|3530 transversion G T G>T 0.000 -0.360 T Thr ACG 0.116 T Thr ACT 0.243 122 209 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G366T:p.T122T FRG2C:NM_001124759:exon4:c.G366T:p.T122T . . 0.1821366 . . @ 104 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 571.0 . . . . . . . . . . -0.4402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148233498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs34204891 rs34204891 rs34204891 rs148233498 1 1538 10 1/0 0,158,233 +. 3 75714771 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714771 75714771 Chr3(GRCh37):g.75714771A>G 428 428 NM_001124759.3:c.428A>G p.Asp143Gly p.Asp143Gly 4 94 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Strongly Activated 75714784 6.57087 0.119798 68.211 7.58887 0.206337 68.304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM4158334|COSM4158334|COSM4158334|COSM4158334 Thyroid|Oesophagus|Liver|Large intestine 0.005355|0.002135|0.000844|0.000901 747|1405|2371|2220 transition A G A>G 0.008 0.448 D Asp GAT 0.461 G Gly GGT 0.162 143 12 6 Armadillo -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.55 3.X 205 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.A428G:p.D143G FRG2C:NM_001124759:exon4:c.A428G:p.D143G . . 0.17160687 . . @ 110 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.263 . . 641.0 . . . . . . . . . . -0.6086 -0.864 -0.609 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . 0.161 @ . . . 0.44 0.35 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.374 . . . . . . . Uncertain_significance . 0 . 0.016 . . . . D 0.903 0.281 . . 37 . 0.458 . . 0.440 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.553 . . 0 0 0 0 0 0 . 0.615 . . 0.662 . . . . . . 0 0.342 . . . . . . . 0.532 . HET 0.38 rs199597773 . . . . . . . . . . . . . . . 0.517 0.517 . 0.310000 A6NGY1 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.441 0.441000 . . 0.310000 . . 1.0E-205 0.005 0.169 . 0.062 0.036 . 0.067 . 0.058 0.441 0.167 . rs34403349 rs34403349 rs34403349 rs199597773 1 1538 10 1/0 0,152,234 +. 3 75714788 A C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714788 75714788 Chr3(GRCh37):g.75714788A>C 445 445 NM_001124759.3:c.445A>C p.Ser149Arg p.Ser149Arg 4 111 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158335|COSM4158335|COSM4158335 Thyroid|Oesophagus|Haematopoietic and lymphoid tissue 0.004016|0.000712|0.000567 747|1405|3530 transversion A C A>C 0.000 -1.651 S Ser AGT 0.149 R Arg CGT 0.082 149 12 3 Rabbit -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 244.67 0.00 Tolerated 0.71 II.90 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.A445C:p.S149R FRG2C:NM_001124759:exon4:c.A445C:p.S149R . . 0.3415929 . . @ 193 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.014 . . 565.0 . . . . . . . . . . -2.0033 -2.048 -2.003 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.398 . . exonic exonic exonic . . 0.086 @ . . . 0.42 0.31 182 ENSG00000172969 FLJ20518 FRG2C . . . 1.000 0.437 . . . . . . . Uncertain_significance . 0 . 0.023 . . . . D 0.899 0.271 . . 37 . 0.148 . . 0.113 . . . 0.044 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.022 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.020 . . . . . . . 0.428 . HET 0.89 rs115350381 . . . . . . . . . . . . . . . 0.673 -1.35 . 0.890000 A6NGY1 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.991 . -1.757 -1.757000 . . 0.890000 . . 1.0E-255 0.001 0.137 . 0.016 0.036 . 0.076 . 0.010 -1.757 -1.523 . . . rs77229582 rs115350381 1 1538 10 1/0 0,173,215 +. 3 75714805 TG T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 deletion frameshift exon GRCh37 75714808 75714808 Chr3(GRCh37):g.75714808del 465 465 NM_001124759.3:c.465del p.Arg156Alafs*10 p.Arg156Alafs*10 4 131 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Weakly Activated 75714814 0.944752 0.000905 66.0903 0.999412 0.000713 71.0841 rs144577984 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM5635791|COSM5635791 Oesophagus|Central nervous system 0.003559|0.002495 1405|2405 G 255 Pass . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.463delG:p.G155fs FRG2C:NM_001124759:exon4:c.463delG:p.G155fs . . 0.26872247 . . . 183 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144577984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs144577984 rs144577984 1 1538 10 1.I 0,10,57 +rs62247158 3 75714807 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714807 75714807 Chr3(GRCh37):g.75714807G>A 464 464 NM_001124759.3:c.464G>A p.Gly155Glu p.Gly155Glu 4 130 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs62247158 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4005624|COSM4005624|COSM4005624|COSM4005624 Urinary tract|Thyroid|Oesophagus|Large intestine 0.001488|0.012048|0.002847|0.001351 672|747|1405|2220 transition G A G>A 0.039 0.125 G Gly GGG 0.250 E Glu GAG 0.583 155 12 11 Armadillo -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 158.23 60.47 Deleterious 0.02 II.92 230 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G464A:p.G155E FRG2C:NM_001124759:exon4:c.G464A:p.G155E . . 0.25820896 . . @ 173 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.426 . @ . . . . . 1 0.519 . . 670.0 . . . . . . . . . . -0.5388 -0.835 -0.539 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.705 . . exonic exonic exonic . . . @ . . . 0.37 0.28 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.998 0.370 . . . . . . . Uncertain_significance . 0 . 0.042 . . . . D 0.991 0.887 . . 37 . 0.724 . . 0.608 . . . 0.281 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.475 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.682 . . . . . . . 0.419 . HET 0 rs62247158 . . . . . . . . . . . . . . . . . . 0.000000 A6NGY1 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.088 0.088000 . . 0.000000 . . 1.0E-230 0.004 0.165 . 0.095 0.161 . 0.085 . 0.276 0.088 0.060 . rs62247158 rs62247158 rs62247158 rs199780042 1 1538 10 1/0 0,159,227 +rs77371781 3 75714809 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714809 75714809 Chr3(GRCh37):g.75714809C>T 466 466 NM_001124759.3:c.466C>T p.Arg156Cys p.Arg156Cys 4 132 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Strongly Activated 75714814 0.944752 0.000905 66.0903 1.51234 0.002732 69.6359 rs77371781 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM4158336|COSM4158336|COSM4158336 Thyroid|Haematopoietic and lymphoid tissue|Bone 0.004016|0.000283|0.001757 747|3530|569 transition C T C>T 0.043 0.609 R Arg CGC 0.190 C Cys TGC 0.552 156 12 6 Armadillo -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C35 38.73 169.74 Deleterious 0.01 II.92 244 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.C466T:p.R156C FRG2C:NM_001124759:exon4:c.C466T:p.R156C . . 0.28612718 . . @ 198 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.286 . @ . . . . . 1 0.235 . . 692.0 . . . . . . . . . . -1.0845 -1.178 -1.084 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.167 @ . . . 0.38 0.27 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.378 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.986 0.813 . . 37 . 0.355 . . 0.310 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.414 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.371 . . . . . . . 0.386 . HET 0.12 rs77371781 . . . . . . . . . . . . . . . 0.616 0.616 . 0.070000 A6NGY1 . . . . . 0.015 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.640 0.640000 . . 0.070000 . . 1.0000000000000001E-244 0.002 0.151 . 0.074 0.163 . 0.272 . 0.275 0.640 0.057 . . . rs77371781 rs117327874 1 1538 10 1/0 0,159,216 +rs74497996 3 75714819 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714819 75714819 Chr3(GRCh37):g.75714819G>A 476 476 NM_001124759.3:c.476G>A p.Arg159Gln p.Arg159Gln 4 142 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs74497996 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM1618046|COSM1618046|COSM1618046|COSM1618046 Thyroid|Liver|Central nervous system|Bone 0.002677|0.000422|0.002495|0.001757 747|2371|2405|569 transition G A G>A 0.004 0.690 R Arg CGG 0.207 Q Gln CAG 0.744 159 12 9 Armadillo 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 125.46 X.30 Tolerated 0.2 II.92 246 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G476A:p.R159Q FRG2C:NM_001124759:exon4:c.G476A:p.R159Q . . 0.29183957 . . @ 211 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.197 . @ . . . . . 1 0.252 . . 723.0 . . . . . . . . . . -1.2113 -1.299 -1.211 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.555 . . exonic exonic exonic . . 0.170 @ . . . 0.37 0.28 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.378 . . . . . . . Uncertain_significance . 0 . 0.040 . . . . D 0.961 0.565 . . 37 . 0.362 . . 0.340 . . . 0.181 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.247 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.433 . . . . . . . 0.380 . HET 0.13 rs74497996 . . . . . . . . . . . . . . . 0.673 0.673 . 0.040000 A6NGY1 . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.648 0.648000 . . 0.040000 . . 1.0E-246 0.001 0.137 . 0.016 0.143 . 0.010 . 0.002 0.648 0.150 . . . rs74497996 rs115599848 1 1538 10 1/0 0,158,214 +. 3 75714824 AG A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 deletion frameshift exon GRCh37 75714826 75714826 Chr3(GRCh37):g.75714826del 483 483 NM_001124759.3:c.483del p.Arg161Serfs*5 p.Arg161Serfs*5 4 149 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs373728386 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM3727766 Haematopoietic and lymphoid tissue 0.000283 3530 G 255 Pass . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.482delG:p.R161fs FRG2C:NM_001124759:exon4:c.482delG:p.R161fs . . 0.18402283 . . . 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373728386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35672165 rs35672165 rs35672165 rs35672165 1 1538 10 1.I 0,7,74 +rs373728386 3 75714825 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714825 75714825 Chr3(GRCh37):g.75714825G>A 482 482 NM_001124759.3:c.482G>A p.Arg161Lys p.Arg161Lys 4 148 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 COSM5636309|COSM5636309 Thyroid|Oesophagus 0.005355|0.002847 747|1405 transition G A G>A 0.004 0.690 R Arg AGG 0.207 K Lys AAG 0.575 161 12 8 Armadillo 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 225.61 XII.95 Tolerated 0.49 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G482A:p.R161K FRG2C:NM_001124759:exon4:c.G482A:p.R161K . . 0.26714286 . . @ 187 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.079 . @ . . . . . 1 0.175 . . 700.0 . . . . . . . . . . -1.1202 -1.210 -1.120 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.499 . . exonic exonic exonic . . 0.170 @ . . . 0.39 0.3 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.378 . . . . . . . Uncertain_significance . 0 . 0.015 . . . . D 0.932 0.391 . . 37 . 0.349 . . 0.148 . . . 0.246 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.307 . . 0 0 0 0 0 0 . 0.154 . . 0.162 . . . . . . 0 0.231 . . . . . . . 0.461 . HET 1 rs115693429 0.022 0.014 . . . . . . . . . . . . . 0.673 0.673 . 0.420000 A6NGY1 . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.052 . 0.648 0.648000 . . 0.420000 . . 1.0E-255 0.004 0.165 . 0.062 0.120 . 0.296 . 0.278 0.648 0.150 0.022 . . rs74640812 rs115693429 1 1538 10 1/0 0,178,222 +rs138192454 3 75714831 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714831 75714831 Chr3(GRCh37):g.75714831G>A 488 488 NM_001124759.3:c.488G>A p.Arg163Gln p.Arg163Gln 4 154 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs138192454 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158337 Thyroid 0.005355 747 transition G A G>A 0.000 0.690 R Arg CGG 0.207 Q Gln CAG 0.744 163 12 9 Cow 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 199.67 0.00 Tolerated 0.27 II.92 242 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G488A:p.R163Q FRG2C:NM_001124759:exon4:c.G488A:p.R163Q . . 0.2778542 . . @ 202 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.228 . @ . . . . . 1 0.368 . . 727.0 . . . . . . . . . . -1.0896 -1.186 -1.090 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.515 . . exonic exonic exonic . . 0.170 @ . . . 0.39 0.29 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.378 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . D 0.936 0.412 . . 37 . 0.356 . . 0.210 . . . 0.263 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.215 . . . . . . . 0.408 . HET 0.17 rs138192454 . . . . . . . . . . . . . . . 0.673 0.673 . 0.210000 A6NGY1 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.052 . 0.648 0.648000 . . 0.210000 . . 1.0E-242 0.001 0.137 . 0.016 0.121 . 0.296 . 0.077 0.648 0.150 . . . rs138192454 rs138192454 1 1538 10 1/0 0,157,217 +rs150744016 3 75714835 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714835 75714835 Chr3(GRCh37):g.75714835C>T 492 492 NM_001124759.3:c.492C>T p.Ala164= p.Ala164Ala 4 158 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Weakly Activated 75714840 1.47273 0.018168 67.0309 0.970598 0.018953 70.5765 rs150744016 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM1162317|COSM1162317|COSM1162317 Thyroid|Pancreas|Central nervous system 0.004016|0.000569|0.002495 747|1758|2405 transition C T C>T 0.000 0.690 A Ala GCC 0.403 A Ala GCT 0.263 164 244 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.C492T:p.A164A FRG2C:NM_001124759:exon4:c.C492T:p.A164A . . 0.2835821 . . @ 209 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 737.0 . . . . . . . . . . -0.2726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.35 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150744016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs150744016 rs150744016 1 1538 10 1/0 0,157,216 +. 3 75714840 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714840 75714840 Chr3(GRCh37):g.75714840A>G 497 497 NM_001124759.3:c.497A>G p.Glu166Gly p.Glu166Gly 4 163 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Strongly Activated 75714840 1.47273 0.018168 67.0309 3.14058 0.082717 70.9418 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM4158338|COSM4158338|COSM4158338 Thyroid|Oesophagus|Haematopoietic and lymphoid tissue 0.005355|0.002847|0.000850 747|1405|3530 transition A G A>G 0.000 -1.893 E Glu GAA 0.417 G Gly GGA 0.246 166 12 4 Armadillo -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 155.40 0.00 Tolerated 0.3 II.92 255 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.A497G:p.E166G FRG2C:NM_001124759:exon4:c.A497G:p.E166G . . 0.55059135 . . @ 419 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.004 . . 761.0 . . . . . . . . . . -2.0998 -2.147 -2.100 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . 0.086 @ . . . 0.38 0.33 182 ENSG00000172969 FLJ20518 FRG2C . . . 1.000 0.458 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.927 0.368 . . 37 . 0.159 . . 0.197 . . . 0.021 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.355 . HET 1 rs200756071 0.022 0.014 . . . . . . . . . . . . . 0.673 -1.35 . 1.000000 A6NGY1 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.052 . -2.051 -2.051000 . . 1.000000 . . 1.0E-255 0.002 0.151 . 0.016 0.074 . 0.078 . 0.010 -2.051 -1.219 0.022 . . rs77669108 rs200756071 1 1538 10 1/0 0,175,187 +. 3 75714843 T A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714843 75714843 Chr3(GRCh37):g.75714843T>A 500 500 NM_001124759.3:c.500T>A p.Val167Asp p.Val167Asp 4 166 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 COSM4158339|COSM4158339|COSM4158339|COSM4158339 Thyroid|Oesophagus|Large intestine|Haematopoietic and lymphoid tissue 0.005355|0.002847|0.000450|0.000283 747|1405|2220|3530 transversion T A T>A 0.000 -2.539 V Val GTC 0.240 D Asp GAC 0.539 167 12 5 Olive baboon -3 -3 -6 0 I.38 5.IX 13 84 54 152 C0 154.90 0.00 Tolerated 0.74 II.92 231 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.T500A:p.V167D FRG2C:NM_001124759:exon4:c.T500A:p.V167D . . 0.24348958 . . @ 187 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.022 . . 768.0 . . . . . . . . . . -1.7596 -1.877 -1.760 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.086 @ . . . 0.36 0.34 182 ENSG00000172969 FLJ20518 FRG2C . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.035 . . . . D 0.943 0.447 . . 37 . 0.242 . . 0.074 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.043 . . 0 0 0 0 0 0 . 0.245 . . 0.342 . . . . . . 0 0.176 . . . . . . . 0.349 . HET 0.22 rs201904817 0.022 0.014 . . . . . . . . . . . . . 0.673 -1.35 . 0.250000 A6NGY1 . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.052 . -2.651 -2.651000 . . 0.250000 . . 1.0E-231 0.008 0.178 . 0.074 0.076 . 0.090 . 0.278 -2.651 0.158 0.022 . . rs77860721 rs201904817 1 1538 10 1/0 0,151,221 +. 3 75714853 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714853 75714853 Chr3(GRCh37):g.75714853G>A 510 510 NM_001124759.3:c.510G>A p.Pro170= p.Pro170Pro 4 176 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 COSM4158340|COSM4158340|COSM4158340 Thyroid|Oesophagus|Large intestine 0.002677|0.003559|0.000901 747|1405|2220 transition G A G>A 0.000 -1.651 P Pro CCG 0.115 P Pro CCA 0.274 170 224 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G510A:p.P170P FRG2C:NM_001124759:exon4:c.G510A:p.P170P . . 0.22352941 . . @ 171 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 765.0 . . . . . . . . . . -0.6698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.29 182 ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199889568 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . 0.022 . . rs75091771 rs199889568 1 1538 10 1/0 0,149,224 +. 3 75714895 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution synonymous exon GRCh37 75714895 75714895 Chr3(GRCh37):g.75714895G>A 552 552 NM_001124759.3:c.552G>A p.Ser184= p.Ser184Ser 4 218 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM1753391|COSM1753391|COSM1753391 Urinary tract|Thyroid|Large intestine 0.001488|0.002677|0.000901 672|747|2220 transition G A G>A 0.012 -1.893 S Ser TCG 0.056 S Ser TCA 0.148 184 182 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G552A:p.S184S FRG2C:NM_001124759:exon4:c.G552A:p.S184S . . 0.11668928 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 737.0 . . . . . . . . . . -0.7360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000172969 FLJ20518 FRG2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs35388625 rs35388625 rs35388625 rs35388625 1 1538 10 1/0 0,141,254 +rs75138472 3 75714917 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714917 75714917 Chr3(GRCh37):g.75714917G>A 574 574 NM_001124759.3:c.574G>A p.Ala192Thr p.Ala192Thr 4 240 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs75138472 no no 0 G 0.000000 0 COSM4158341|COSM4158341 Thyroid|Large intestine 0.002677|0.001351 747|2220 transition G A G>A 0.008 0.448 A Ala GCC 0.403 T Thr ACC 0.361 192 12 7 Dog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 65.28 49.42 Tolerated 0.15 II.92 222 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G574A:p.A192T FRG2C:NM_001124759:exon4:c.G574A:p.A192T . . 0.2173913 . . @ 145 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.103 . @ . . . . . 1 0.224 . . 667.0 . . . . . . . . . . -1.1346 -1.244 -1.135 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.515 . . exonic exonic exonic . . 0.155 @ . . . 0.42 0.31 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.374 . . . . . . . Uncertain_significance . 0 . 0.079 . . . . D 0.912 0.311 . . 37 . 0.323 . . 0.356 . . . 0.246 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.324 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.419 . . . . . . . 0.388 . HET 0.4 rs75138472 . . . . . . . . . . . . . . . 0.397 0.397 . 0.060000 A6NGY1 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.991 . 0.451 0.451000 . . 0.060000 . . 1.0E-222 0.002 0.151 . 0.043 0.071 . 0.142 . 0.018 0.451 0.150 . . . rs75138472 rs146351690 1 1538 10 1/0 0,155,240 +. 3 75714929 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution missense exon GRCh37 75714929 75714929 Chr3(GRCh37):g.75714929G>A 586 586 NM_001124759.3:c.586G>A p.Ala196Thr p.Ala196Thr 4 252 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 COSM4158342|COSM4158342 Thyroid|Large intestine 0.001339|0.001802 747|2220 transition G A G>A 0.000 -0.440 A Ala GCA 0.226 T Thr ACA 0.280 196 12 9 Armadillo 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 248.20 0.00 Tolerated 0.07 II.90 219 PASS . . . . . . . . . . . . FLJ20518:uc003dpt.4:exon4:c.G586A:p.A196T FRG2C:NM_001124759:exon4:c.G586A:p.A196T . . 0.2167939 . . @ 142 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.451 . . 655.0 . . . . . . . . . . -0.6757 -0.976 -0.676 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.104 @ . . . 0.39 0.29 182 ENSG00000172969 FLJ20518 FRG2C . . . 0.999 0.376 . . . . . . . Uncertain_significance . 0 . 0.098 . . . . D 0.923 0.351 . . 37 . 0.466 . . 0.508 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.408 . . 0 0 0 0 0 0 . 0.615 . . 0.625 . . . . . . 0 0.377 . . . . . . . 0.338 . HET 0.31 rs148715408 . . . . . . . . . . . . . . . 0.397 -0.763 . 0.080000 A6NGY1 . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.991 . -0.433 -0.433000 . . 0.080000 . . 1.0E-219 0.001 0.137 . 0.043 0.011 . 0.125 . 0.052 -0.433 0.150 . . . rs75980922 rs148715408 1 1538 10 1/0 0,156,247 +rs796705380 3 75718092 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718092 75718092 Chr3(GRCh37):g.75718092C>T *2900 *2900 NM_001124759.3:c.*2900C>T p.? p.? 4 3415 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796705380 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.004 -0.198 114 PASS . . . . . . . . . . . . . . . . 0.1264637 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 427.0 . . . . . . . . . . -0.3245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1724\x3bdist\x3d3340 dist\x3d1724\x3bdist\x3d3340 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-114 . . . . . . . . . . . . . . . . 1 1538 14 1/0 0,170,253 +rs796437293 3 75718102 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718102 75718102 Chr3(GRCh37):g.75718102G>A *2910 *2910 NM_001124759.3:c.*2910G>A p.? p.? 4 3425 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 New Acceptor Site 75718104 5.20217 0.439724 73.1873 rs796437293 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -2.135 120 PASS . . . . . . . . . . . . . . . . 0.14823009 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 452.0 . . . . . . . . . . -0.7046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1734\x3bdist\x3d3330 dist\x3d1734\x3bdist\x3d3330 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-120 . . . . . . . . . . . . . . . . 1 1538 14 1/0 0,171,248 +. 3 75718106 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718106 75718106 Chr3(GRCh37):g.75718106A>G *2914 *2914 NM_001124759.3:c.*2914A>G p.? p.? 4 3429 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.008 0.770 255 PASS . . . . . . . . . . . . . . . . 0.59423506 . . @ 268 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 451.0 . . . . . . . . . . -0.2760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.68 0.32 182 ENSG00000236138 . . . dist\x3d1738\x3bdist\x3d3326 dist\x3d1738\x3bdist\x3d3326 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.85 rs202144711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79976340 rs202144711 1 1538 10 1/0 0,190,188 +rs377274207 3 75718117 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718117 75718117 Chr3(GRCh37):g.75718117C>T *2925 *2925 NM_001124759.3:c.*2925C>T p.? p.? 4 3440 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs377274207 no no 0 C 0.000000 0 transition C T C>T 0.004 0.125 162 PASS . . . . . . . . . . . . . . . . 0.13729508 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 488.0 . . . . . . . . . . -0.3602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1749\x3bdist\x3d3315 dist\x3d1749\x3bdist\x3d3315 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs377274207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-162 . . . . . . . . . . . . . . rs377274207 rs377274207 1 1538 14 1/0 0,162,244 +rs370516968 3 75718119 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718119 75718119 Chr3(GRCh37):g.75718119C>T *2927 *2927 NM_001124759.3:c.*2927C>T p.? p.? 4 3442 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs370516968 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.360 139 PASS . . . . . . . . . . . . . . . . 0.16016427 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 487.0 . . . . . . . . . . -0.2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1751\x3bdist\x3d3313 dist\x3d1751\x3bdist\x3d3313 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.21 rs370516968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-139 . . . . . . . . . . . . . . rs370516968 rs370516968 1 1538 14 1/0 0,167,242 +rs374003485 3 75718128 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718128 75718128 Chr3(GRCh37):g.75718128G>A *2936 *2936 NM_001124759.3:c.*2936G>A p.? p.? 4 3451 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs374003485 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -0.037 183 PASS . . . . . . . . . . . . . . . . 0.2952183 . . @ 142 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 481.0 . . . . . . . . . . -0.2314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1760\x3bdist\x3d3304 dist\x3d1760\x3bdist\x3d3304 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.36 rs374003485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs374003485 rs374003485 1 1538 15 1/0 0,180,220 +rs11128468 3 75718129 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718129 75718129 Chr3(GRCh37):g.75718129A>G *2937 *2937 NM_001124759.3:c.*2937A>G p.? p.? 4 3452 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs11128468 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.790224 . . @ 388 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 491.0 . . . . . . . . . . -0.3763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.66 0.39 182 ENSG00000236138 . . . dist\x3d1761\x3bdist\x3d3303 dist\x3d1761\x3bdist\x3d3303 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11128468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11128468 rs11128468 rs11128468 rs11128468 1 1538 14 1/0 0,176,171 +rs375793983 3 75718133 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718133 75718133 Chr3(GRCh37):g.75718133C>T *2941 *2941 NM_001124759.3:c.*2941C>T p.? p.? 4 3456 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs375793983 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.198 168 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 510.0 . . . . . . . . . . -0.1672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1765\x3bdist\x3d3299 dist\x3d1765\x3bdist\x3d3299 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 1 rs375793983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-168 . . . . . . . . . . . . . . rs375793983 rs375793983 1 1538 14 1/0 0,160,252 +rs76817787 3 75718135 A G - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718135 75718135 Chr3(GRCh37):g.75718135A>G *2943 *2943 NM_001124759.3:c.*2943A>G p.? p.? 4 3458 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs76817787 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.88593155 . . @ 466 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 526.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.63 0.38 182 ENSG00000236138 . . . dist\x3d1767\x3bdist\x3d3297 dist\x3d1767\x3bdist\x3d3297 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76817787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76817787 rs200177745 1 1538 14 1/0 0,168,164 +rs370097316 3 75718139 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718139 75718139 Chr3(GRCh37):g.75718139C>T *2947 *2947 NM_001124759.3:c.*2947C>T p.? p.? 4 3462 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs370097316 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.004 0.125 130 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 88 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 550.0 . . . . . . . . . . -0.0674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1771\x3bdist\x3d3293 dist\x3d1771\x3bdist\x3d3293 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.06 rs370097316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-130 . . . . . . . . . . . . . . rs370097316 rs370097316 1 1538 14 1/0 0,163,238 +rs374591773 3 75718140 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718140 75718140 Chr3(GRCh37):g.75718140G>A *2948 *2948 NM_001124759.3:c.*2948G>A p.? p.? 4 3463 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs374591773 no no 0 G 0.000000 0 transition G A G>A 0.008 1.174 153 PASS . . . . . . . . . . . . . . . . 0.1331058 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 586.0 . . . . . . . . . . -0.1176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1772\x3bdist\x3d3292 dist\x3d1772\x3bdist\x3d3292 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.03 rs374591773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-153 . . . . . . . . . . . . . . rs374591773 rs374591773 1 1538 14 1/0 0,154,243 +rs113448022 3 75718142 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718142 75718142 Chr3(GRCh37):g.75718142C>T *2950 *2950 NM_001124759.3:c.*2950C>T p.? p.? 4 3465 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Donor Strongly Activated 75718140 56.2767 3.83789 0.024218 69.2464 rs113448022 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.008 -0.602 125 PASS . . . . . . . . . . . . . . . . 0.13149351 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 616.0 . . . . . . . . . . -0.2267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.37 182 ENSG00000236138 . . . dist\x3d1774\x3bdist\x3d3290 dist\x3d1774\x3bdist\x3d3290 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 1 rs113448022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-125 . . . . . . . . . . . . . . rs113448022 rs113448022 1 1538 14 1/0 0,154,244 +. 3 75718164 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718164 75718164 Chr3(GRCh37):g.75718164C>T *2972 *2972 NM_001124759.3:c.*2972C>T p.? p.? 4 3487 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.117 158 PASS . . . . . . . . . . . . . . . . 0.1777151 . . @ 126 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 709.0 . . . . . . . . . . -0.2696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.37 182 ENSG00000236138 . . . dist\x3d1796\x3bdist\x3d3268 dist\x3d1796\x3bdist\x3d3268 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-158 . . . . . . . . . . . . . . . . 1 1538 14 1/0 0,151,216 +rs112524382 3 75718174 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718174 75718174 Chr3(GRCh37):g.75718174C>T *2982 *2982 NM_001124759.3:c.*2982C>T p.? p.? 4 3497 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Donor Strongly Activated 75718172 67.7271 4.44386 0.631791 78.1761 rs112524382 no no 0 C 0.000000 0 transition C T C>T 0.000 -2.297 140 PASS . . . . . . . . . . . . . . . . 0.15883978 . . @ 115 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 724.0 . . . . . . . . . . -0.0370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.32 182 ENSG00000236138 . . . dist\x3d1806\x3bdist\x3d3258 dist\x3d1806\x3bdist\x3d3258 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112524382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-140 . . . . . . . . . . . . . . rs200526067 rs200526067 1 1538 14 1/0 0,149,223 +rs10865697 3 75718179 T C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718179 75718179 Chr3(GRCh37):g.75718179T>C *2987 *2987 NM_001124759.3:c.*2987T>C p.? p.? 4 3502 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs10865697 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.7355372 . . @ 534 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 726.0 . . . . . . . . . . 0.4454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.36 182 ENSG00000236138 . . . dist\x3d1811\x3bdist\x3d3253 dist\x3d1811\x3bdist\x3d3253 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs10865697 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs10865697 rs10865697 rs10865697 rs10865697 1 1538 14 1/0 0,159,153 +. 3 75718199 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718199 75718199 Chr3(GRCh37):g.75718199C>T *3007 *3007 NM_001124759.3:c.*3007C>T p.? p.? 4 3522 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -1.247 179 PASS . . . . . . . . . . . . . . . . 0.22060354 . . @ 212 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 961.0 . . . . . . . . . . 0.4118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.32 182 ENSG00000236138 . . . dist\x3d1831\x3bdist\x3d3233 dist\x3d1831\x3bdist\x3d3233 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.14 rs141799937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs36186004 rs36186004 rs141799937 rs141799937 1 1538 13 1/0 0,141,197 +. 3 75718200 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718200 75718200 Chr3(GRCh37):g.75718200G>A *3008 *3008 NM_001124759.3:c.*3008G>A p.? p.? 4 3523 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -0.198 185 PASS . . . . . . . . . . . . . . . . 0.14300203 . . @ 141 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 986.0 . . . . . . . . . . 0.5295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.53 0.32 182 ENSG00000236138 . . . dist\x3d1832\x3bdist\x3d3232 dist\x3d1832\x3bdist\x3d3232 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs36184800 rs36184800 . . 1 1538 10 1/0 0,131,211 +. 3 75718207 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718207 75718207 Chr3(GRCh37):g.75718207G>A *3015 *3015 NM_001124759.3:c.*3015G>A p.? p.? 4 3530 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -1.005 137 PASS . . . . . . . . . . . . . . . . 0.18015414 . . @ 187 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1038.0 . . . . . . . . . . 0.3844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.37 182 ENSG00000236138 . . . dist\x3d1839\x3bdist\x3d3225 dist\x3d1839\x3bdist\x3d3225 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-137 . . . . . . . . . . . . . . . . 1 1538 13 1/0 0,137,198 +rs374298497 3 75718212 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718212 75718212 Chr3(GRCh37):g.75718212C>T *3020 *3020 NM_001124759.3:c.*3020C>T p.? p.? 4 3535 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs374298497 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 0.125 113 PASS . . . . . . . . . . . . . . . . 0.10778985 . . @ 119 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1104.0 . . . . . . . . . . 0.7194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.38 182 ENSG00000236138 . . . dist\x3d1844\x3bdist\x3d3220 dist\x3d1844\x3bdist\x3d3220 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.12 rs374298497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . rs36130764 rs36130764 rs374298497 rs374298497 1 1538 13 1/0 0,126,221 +rs368178797 3 75718219 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718219 75718219 Chr3(GRCh37):g.75718219C>T *3027 *3027 NM_001124759.3:c.*3027C>T p.? p.? 4 3542 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 Cryptic Acceptor Strongly Activated 75718228 II.84 0.010341 67.8086 3.75685 0.032362 70.5205 rs368178797 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -1.167 156 PASS . . . . . . . . . . . . . . . . 0.13 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1200.0 . . . . . . . . . . 0.3771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.59 0.38 182 ENSG00000236138 . . . dist\x3d1851\x3bdist\x3d3213 dist\x3d1851\x3bdist\x3d3213 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs368178797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . rs36188089 rs36188089 rs368178797 rs368178797 1 1538 10 1/0 0,123,203 +rs372194902 3 75718220 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718220 75718220 Chr3(GRCh37):g.75718220G>A *3028 *3028 NM_001124759.3:c.*3028G>A p.? p.? 4 3543 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs372194902 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 0.205 132 PASS . . . . . . . . . . . . . . . . 0.15950413 . . @ 193 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1210.0 . . . . . . . . . . 0.6933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1852\x3bdist\x3d3212 dist\x3d1852\x3bdist\x3d3212 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 rs372194902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-132 . . . . . . . . . . . . . . rs372194902 rs372194902 1 1538 13 1/0 0,128,195 +rs112217552 3 75718232 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718232 75718232 Chr3(GRCh37):g.75718232C>T *3040 *3040 NM_001124759.3:c.*3040C>T p.? p.? 4 3555 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs112217552 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -2.539 112 PASS . . . . . . . . . . . . . . . . 0.21060172 . . @ 294 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1396.0 . . . . . . . . . . -0.0775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.33 182 ENSG00000236138 . . . dist\x3d1864\x3bdist\x3d3200 dist\x3d1864\x3bdist\x3d3200 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.1 rs112217552 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-112 . . . . . . . . . . . . . . rs149701313 rs149701313 1 1538 13 1/0 0,132,179 +rs796519983 3 75718233 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718233 75718233 Chr3(GRCh37):g.75718233G>A *3041 *3041 NM_001124759.3:c.*3041G>A p.? p.? 4 3556 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796519983 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.198 128 PASS . . . . . . . . . . . . . . . . 0.12833099 . . @ 183 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1426.0 . . . . . . . . . . 0.4870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.29 182 ENSG00000236138 . . . dist\x3d1865\x3bdist\x3d3199 dist\x3d1865\x3bdist\x3d3199 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-128 . . . . . . . . . . . . . . . . 1 1538 13 1/0 0,117,207 +rs200588432 3 75718249 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718249 75718249 Chr3(GRCh37):g.75718249C>T *3057 *3057 NM_001124759.3:c.*3057C>T p.? p.? 4 3572 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs200588432 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 0 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 7478 Genomes transition C T C>T 0.000 -0.682 126 PASS . . . . . . . . . . . . . . . . 0.1185446 . . @ 202 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1704.0 . . . . . . . . . . 0.3557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.3 182 ENSG00000236138 . . . dist\x3d1881\x3bdist\x3d3183 dist\x3d1881\x3bdist\x3d3183 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . . 1.0E-126 . . . . . . . . . . . . . . . . 1 1538 12 1/0 0,108,201 +rs376804863 3 75718250 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718250 75718250 Chr3(GRCh37):g.75718250G>A *3058 *3058 NM_001124759.3:c.*3058G>A p.? p.? 4 3573 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs376804863 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 0 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5739 Genomes transition G A G>A 0.004 0.770 127 PASS . . . . . . . . . . . . . . . . 0.115563296 . . @ 199 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1722.0 . . . . . . . . . . 0.6625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.23 182 ENSG00000236138 . . . dist\x3d1882\x3bdist\x3d3182 dist\x3d1882\x3bdist\x3d3182 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.21 rs376804863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . rs71225874 rs376804863 rs376804863 1 1538 12 1/0 0,107,204 +rs367793103 3 75718257 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718257 75718257 Chr3(GRCh37):g.75718257C>T *3065 *3065 NM_001124759.3:c.*3065C>T p.? p.? 4 3580 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs367793103 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 0 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 7830 Genomes transition C T C>T 0.000 -0.117 185 PASS . . . . . . . . . . . . . . . . 0.17754425 . . @ 321 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1808.0 . . . . . . . . . . 0.5799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.59 0.3 182 ENSG00000236138 . . . dist\x3d1889\x3bdist\x3d3175 dist\x3d1889\x3bdist\x3d3175 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.13 rs367793103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs36127111 rs36127111 rs367793103 rs367793103 1 1538 10 1/0 0,109,183 +rs9713380 3 75718258 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718258 75718258 Chr3(GRCh37):g.75718258G>A *3066 *3066 NM_001124759.3:c.*3066G>A p.? p.? 4 3581 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 New Acceptor Site 75718260 2.65392 0.064634 75.4271 rs9713380 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -2.458 208 PASS . . . . . . . . . . . . . . . . 0.2299613 . . @ 416 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 1809.0 . . . . . . . . . . 0.0669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.24 182 ENSG00000236138 . . . dist\x3d1890\x3bdist\x3d3174 dist\x3d1890\x3bdist\x3d3174 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201925389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . rs9713380 rs9713380 rs9713380 rs201925389 1 1538 12 1/0 0,113,169 +rs9798871 3 75718277 T C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718277 75718277 Chr3(GRCh37):g.75718277T>C *3085 *3085 NM_001124759.3:c.*3085T>C p.? p.? 4 3600 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs9798871 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.012 0.690 182 PASS . . . . . . . . . . . . . . . . 0.12946428 . . @ 261 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2016.0 . . . . . . . . . . 0.7153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.57 0.35 182 ENSG00000236138 . . . dist\x3d1909\x3bdist\x3d3155 dist\x3d1909\x3bdist\x3d3155 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs9798871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs9798871 rs9798871 rs9798871 rs9798871 1 1538 10 1/0 0,99,192 +rs113116640 3 75718298 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718298 75718298 Chr3(GRCh37):g.75718298C>T *3106 *3106 NM_001124759.3:c.*3106C>T p.? p.? 4 3621 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs113116640 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.117 170 PASS . . . . . . . . . . . . . . . . 0.20291026 . . @ 502 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2474.0 . . . . . . . . . . 0.5922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.57 0.34 182 ENSG00000236138 . . . dist\x3d1930\x3bdist\x3d3134 dist\x3d1930\x3bdist\x3d3134 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.15 rs113116640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-170 . . . . . . . . . . . . . . rs113116640 rs113116640 1 1538 12 1/0 0,99,167 +rs796461170 3 75718299 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718299 75718299 Chr3(GRCh37):g.75718299G>A *3107 *3107 NM_001124759.3:c.*3107G>A p.? p.? 4 3622 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796461170 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 6 0 0 0 0 2 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4400 Genomes transition G A G>A 0.000 0.044 135 PASS . . . . . . . . . . . . . . . . 0.148 . . @ 370 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2500.0 . . . . . . . . . . 0.6844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.53 0.37 182 ENSG00000236138 . . . dist\x3d1931\x3bdist\x3d3133 dist\x3d1931\x3bdist\x3d3133 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 0 . . . . . . . . . . . . 1.0E-135 . . . . . . . . . . . . . . . . 1 1538 12 1/0 0,95,180 +rs187800837 3 75718316 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718316 75718316 Chr3(GRCh37):g.75718316C>T *3124 *3124 NM_001124759.3:c.*3124C>T p.? p.? 4 3639 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs187800837 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 0.932 149 PASS . . . . . . . . . . . . . . . . 0.15519126 . . @ 426 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2745.0 . . . . . . . . . . 0.9047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.38 182 ENSG00000236138 . . . dist\x3d1948\x3bdist\x3d3116 dist\x3d1948\x3bdist\x3d3116 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 rs187800837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-149 . . . . . . . . . . . . . . rs187800837 rs187800837 1 1538 12 1/0 0,91,177 +rs75469027 3 75718317 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718317 75718317 Chr3(GRCh37):g.75718317G>A *3125 *3125 NM_001124759.3:c.*3125G>A p.? p.? 4 3640 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs75469027 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 31364 Genomes transition G A G>A 0.000 -1.893 157 PASS . . . . . . . . . . . . . . . . 0.22052401 . . @ 606 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2748.0 . . . . . . . . . . 0.3985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.35 182 ENSG00000236138 . . . dist\x3d1949\x3bdist\x3d3115 dist\x3d1949\x3bdist\x3d3115 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.27 rs75469027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 . . . . . . . . . . . . . 1.0E-157 . . . . . . . . . . . . rs34867517 rs34867517 rs75469027 rs199979427 1 1538 12 1/0 0,99,163 +rs796598017 3 75718320 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718320 75718320 Chr3(GRCh37):g.75718320G>A *3128 *3128 NM_001124759.3:c.*3128G>A p.? p.? 4 3643 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796598017 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 4 2 0 0 0 2 8 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3785 Genomes transition G A G>A 0.000 -1.167 126 PASS . . . . . . . . . . . . . . . . 0.108634114 . . @ 307 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2826.0 . . . . . . . . . . 0.6157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.52 0.42 182 ENSG00000236138 . . . dist\x3d1952\x3bdist\x3d3112 dist\x3d1952\x3bdist\x3d3112 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-126 . . . . . . . . . . . . rs36103403 rs36103403 . . 1 1538 12 1/0 0,85,192 +rs796193564 3 75718329 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718329 75718329 Chr3(GRCh37):g.75718329G>A *3137 *3137 NM_001124759.3:c.*3137G>A p.? p.? 4 3652 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796193564 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 37082 Genomes transition G A G>A 0.000 0.044 125 PASS . . . . . . . . . . . . . . . . 0.14724354 . . @ 422 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 2866.0 . . . . . . . . . . 0.5880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.55 0.4 182 ENSG00000236138 . . . dist\x3d1961\x3bdist\x3d3103 dist\x3d1961\x3bdist\x3d3103 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 . . . . . . . . . . . . . 1.0E-125 . . . . . . . . . . . . . . . . 1 1538 12 1/0 0,90,179 +rs796448950 3 75718339 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718339 75718339 Chr3(GRCh37):g.75718339C>T *3147 *3147 NM_001124759.3:c.*3147C>T p.? p.? 4 3662 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796448950 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 2 2 0 0 0 2 6 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5477 Genomes transition C T C>T 0.000 -0.682 103 PASS . . . . . . . . . . . . . . . . 0.1073539 . . @ 327 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3046.0 . . . . . . . . . . 0.2242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.4 182 ENSG00000236138 . . . dist\x3d1971\x3bdist\x3d3093 dist\x3d1971\x3bdist\x3d3093 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-103 . . . . . . . . . . . . . rs71247681 . . 1 1538 12 1/0 0,84,194 +rs376433595 3 75718340 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718340 75718340 Chr3(GRCh37):g.75718340G>A *3148 *3148 NM_001124759.3:c.*3148G>A p.? p.? 4 3663 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 New Acceptor Site 75718342 1.08868 0.055001 71.384 rs376433595 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 2 2 0 0 0 0 12 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4252 Genomes transition G A G>A 0.000 -0.602 106 PASS . . . . . . . . . . . . . . . . 0.14355628 . . @ 440 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3065.0 . . . . . . . . . . 0.5770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000236138 . . . dist\x3d1972\x3bdist\x3d3092 dist\x3d1972\x3bdist\x3d3092 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.27 rs376433595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 . 0 . . . . . . . . . . . 1.0E-106 . . . . . . . . . . . . . . rs376433595 rs376433595 1 1538 12 1/0 0,91,183 +rs796290132 3 75718346 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718346 75718346 Chr3(GRCh37):g.75718346C>T *3154 *3154 NM_001124759.3:c.*3154C>T p.? p.? 4 3669 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796290132 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.763 127 PASS . . . . . . . . . . . . . . . . 0.14400515 . . @ 448 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3111.0 . . . . . . . . . . 0.3990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.63 0.39 182 ENSG00000236138 . . . dist\x3d1978\x3bdist\x3d3086 dist\x3d1978\x3bdist\x3d3086 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . . . 1 1538 12 1/0 0,86,181 +rs201901848 3 75718347 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718347 75718347 Chr3(GRCh37):g.75718347G>A *3155 *3155 NM_001124759.3:c.*3155G>A p.? p.? 4 3670 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs201901848 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 4 2 0 0 0 0 14 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3509 Genomes transition G A G>A 0.000 -0.682 145 PASS . . . . . . . . . . . . . . . . 0.16560306 . . @ 519 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3134.0 . . . . . . . . . . 0.5029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.4 182 ENSG00000236138 . . . dist\x3d1979\x3bdist\x3d3085 dist\x3d1979\x3bdist\x3d3085 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.31 rs201901848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 . 0 . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . rs36144869 rs36144869 rs201901848 rs201901848 1 1538 12 1/0 0,87,174 +rs369928612 3 75718348 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718348 75718348 Chr3(GRCh37):g.75718348C>T *3156 *3156 NM_001124759.3:c.*3156C>T p.? p.? 4 3671 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs369928612 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 2 0 0 0 0 0 16 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3561 Genomes transition C T C>T 0.000 -0.763 133 PASS . . . . . . . . . . . . . . . . 0.16125955 . . @ 507 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3144.0 . . . . . . . . . . 0.3668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.44 182 ENSG00000236138 . . . dist\x3d1980\x3bdist\x3d3084 dist\x3d1980\x3bdist\x3d3084 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369928612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . 0 . . . . . . . . . . . 1.0E-133 . . . . . . . . . . . . rs34317362 rs34317362 rs369928612 rs369928612 1 1538 12 1/0 0,87,174 +rs9755233 3 75718353 T C - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718353 75718353 Chr3(GRCh37):g.75718353T>C *3161 *3161 NM_001124759.3:c.*3161T>C p.? p.? 4 3676 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs9755233 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 36144 Genomes transition T C T>C 0.000 -2.861 255 PASS . . . . . . . . . . . . . . . . 0.7101081 . . @ 2234 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3146.0 . . . . . . . . . . -0.0889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.57 0.43 182 ENSG00000236138 . . . dist\x3d1985\x3bdist\x3d3079 dist\x3d1985\x3bdist\x3d3079 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.77 rs145525581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9755233 rs9755233 rs9755233 rs145525581 1 1538 12 1/0 0,115,110 +rs148838607 3 75718354 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718354 75718354 Chr3(GRCh37):g.75718354G>A *3162 *3162 NM_001124759.3:c.*3162G>A p.? p.? 4 3677 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs148838607 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 4 2 0 0 0 6 12 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 2759 Genomes transition G A G>A 0.000 -1.409 128 PASS . . . . . . . . . . . . . . . . 0.15461347 . . @ 496 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3208.0 . . . . . . . . . . 0.4922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.41 182 ENSG00000236138 . . . dist\x3d1986\x3bdist\x3d3078 dist\x3d1986\x3bdist\x3d3078 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148838607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-128 . . . . . . . . . . . . . rs67157308 rs148838607 rs148838607 1 1538 12 1/0 0,86,177 +rs796981096 3 75718367 C T - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718367 75718367 Chr3(GRCh37):g.75718367C>T *3175 *3175 NM_001124759.3:c.*3175C>T p.? p.? 4 3690 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs796981096 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -0.440 128 PASS . . . . . . . . . . . . . . . . 0.18763134 . . @ 625 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3331.0 . . . . . . . . . . 0.5875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.59 0.39 182 ENSG00000236138 . . . dist\x3d1999\x3bdist\x3d3065 dist\x3d1999\x3bdist\x3d3065 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-128 . . . . . . . . . . . . . rs71235927 . . 1 1538 12 1/0 0,90,169 +rs373780336 3 75718368 G A - FRG2C 33626 FSHD region gene 2 family member C NM_001124759.3 1 2214 849 NP_001118231.1 A6NGY1 substitution downstream GRCh37 75718368 75718368 Chr3(GRCh37):g.75718368G>A *3176 *3176 NM_001124759.3:c.*3176G>A p.? p.? 4 3691 3' 96.6549 X.77 0.988962 XII.66 96.6549 X.77 0.988962 XII.66 0 rs373780336 no no 0 G 0.000000 0 transition G A G>A 0.000 0.125 186 PASS . . . . . . . . . . . . . . . . 0.21434899 . . @ 726 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 3387.0 . . . . . . . . . . 0.7148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.4 182 ENSG00000236138 . . . dist\x3d2000\x3bdist\x3d3064 dist\x3d2000\x3bdist\x3d3064 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.18 rs373780336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . 0 0 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . rs36127306 rs36127306 rs373780336 rs373780336 1 1538 12 1/0 0,87,165 +rs62248001 (chr3:75718374 G/A) 3 75718374 G A Not on a known gene +rs796916969 (chr3:75718378 C/T) 3 75718378 C T Not on a known gene +rs375698359 (chr3:75718379 G/A) 3 75718379 G A Not on a known gene +. (chr3:75718382 G/A) 3 75718382 G A Not on a known gene +rs796400927 (chr3:75718387 C/T) 3 75718387 C T Not on a known gene +rs201273798 (chr3:75718388 G/A) 3 75718388 G A Not on a known gene +rs372938746 (chr3:75718399 C/T) 3 75718399 C T Not on a known gene +rs878918956 (chr3:75718400 G/A) 3 75718400 G A Not on a known gene +rs113405216 (chr3:75718412 C/T) 3 75718412 C T Not on a known gene +rs796830802 (chr3:75718431 G/A) 3 75718431 G A Not on a known gene +rs375905227 (chr3:75718445 G/A) 3 75718445 G A Not on a known gene +rs141907992 (chr3:75718447 C/T) 3 75718447 C T Not on a known gene +rs191107227 (chr3:75718448 G/A) 3 75718448 G A Not on a known gene +rs370358827 (chr3:75718482 C/T) 3 75718482 C T Not on a known gene +rs148149739 (chr3:75718483 G/A) 3 75718483 G A Not on a known gene +rs372560902 (chr3:75718515 G/A) 3 75718515 G A Not on a known gene +. (chr3:75718539 G/C) 3 75718539 G C Not on a known gene +rs796457456 (chr3:75718548 C/T) 3 75718548 C T Not on a known gene +rs200379164 (chr3:75718549 G/A) 3 75718549 G A Not on a known gene +rs796597565 (chr3:75718550 C/T) 3 75718550 C T Not on a known gene +rs371101263 (chr3:75718552 C/T) 3 75718552 C T Not on a known gene +rs796331509 (chr3:75718554 C/T) 3 75718554 C T Not on a known gene +rs62248002 (chr3:75718555 G/A) 3 75718555 G A Not on a known gene +. (chr3:75718558 C/G) 3 75718558 C G Not on a known gene +rs368475864 (chr3:75718564 C/T) 3 75718564 C T Not on a known gene +rs189438805 (chr3:75718565 G/A) 3 75718565 G A Not on a known gene +rs878905437 (chr3:75718576 C/T) 3 75718576 C T Not on a known gene +rs796112200 (chr3:75718579 G/A) 3 75718579 G A Not on a known gene +. (chr3:75718586 A/G) 3 75718586 A G Not on a known gene +rs796308557 (chr3:75718587 G/T) 3 75718587 G T Not on a known gene +rs796927598 (chr3:75718588 C/T) 3 75718588 C T Not on a known gene +rs75922170 3 75779649 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779649 75779649 Chr3(GRCh37):g.75779649T>G *6380 *6380 NM_001128223.2:c.*6380A>C p.? p.? 5 8848 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs75922170 no no 0 T 0.000000 0 transversion A C A>C 0.157 0.367 255 PASS . . . . . . . . . . . . . . . . 0.3943662 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . 0.0322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.57 0.6 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*115A>C dist\x3d51195\x3bdist\x3d6380 NM_001290210:c.*115A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75922170 0.141 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs75922170 rs139049940 1 1538 10 1/0 0,255,255 +rs78431785 3 75779680 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779680 75779680 Chr3(GRCh37):g.75779680A>G *6349 *6349 NM_001128223.2:c.*6349T>C p.? p.? 5 8817 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs78431785 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.291 0.367 255 PASS . . . . . . . . . . . . . . . . 0.48387095 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . 0.1433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.52 0.49 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*84T>C dist\x3d51226\x3bdist\x3d6349 NM_001290210:c.*84T>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78431785 0.163 0.123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs78431785 rs202008230 1 1538 10 1/0 0,255,255 +rs78506989 3 75779688 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779688 75779688 Chr3(GRCh37):g.75779688T>G *6341 *6341 NM_001128223.2:c.*6341A>C p.? p.? 5 8809 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs78506989 yes no Frequency 1 T 0.000000 0 transversion A C A>C 0.307 0.367 255 PASS . . . . . . . . . . . . . . . . 0.46067417 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.0498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.55 0.47 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*76A>C dist\x3d51234\x3bdist\x3d6341 NM_001290210:c.*76A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78506989 0.163 0.123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs78506989 rs199773894 1 1538 10 1/0 0,255,255 +rs77079546 3 75779709 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779709 75779709 Chr3(GRCh37):g.75779709C>T *6320 *6320 NM_001128223.2:c.*6320G>A p.? p.? 5 8788 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77079546 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.063 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.76086956 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.8731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.53 0.5 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*55G>A dist\x3d51255\x3bdist\x3d6320 NM_001290210:c.*55G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs77079546 0.467 0.471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 . . rs77079546 rs147717594 1 1538 10 1/0 0,255,255 +rs78030541 3 75779719 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779719 75779719 Chr3(GRCh37):g.75779719T>C *6310 *6310 NM_001128223.2:c.*6310A>G p.? p.? 5 8778 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs78030541 no no 0 T 0.000000 0 transition A G A>G 0.008 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44210526 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.4128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.53 0.46 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*45A>G dist\x3d51265\x3bdist\x3d6310 NM_001290210:c.*45A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78030541 0.413 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.41 . . rs78030541 rs199968937 1 1538 10 1/0 0,255,255 +rs73841586 3 75779742 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779742 75779742 Chr3(GRCh37):g.75779742G>A *6287 *6287 NM_001128223.2:c.*6287C>T p.? p.? 5 8755 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs73841586 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.602 240 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.5476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.49 0.44 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*22C>T dist\x3d51288\x3bdist\x3d6287 NM_001290210:c.*22C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73841586 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . 0.022 . rs73841586 rs73841586 rs141228270 1 1538 10 1/0 0,249,255 +rs150390185 3 75779760 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779760 75779760 Chr3(GRCh37):g.75779760G>T *6269 *6269 NM_001128223.2:c.*6269C>A p.? p.? 5 8737 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs150390185 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.844 189 PASS . . . . . . . . . . . . . . . . 0.13414635 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.4967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.46 0.5 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*4C>A dist\x3d51306\x3bdist\x3d6269 NM_001290210:c.*4C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs150390185 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.011 rs4847438 rs4847438 rs150390185 rs150390185 1 1538 10 1/0 0,238,255 +rs73841587 3 75779762 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779762 75779762 Chr3(GRCh37):g.75779762G>T *6267 *6267 NM_001128223.2:c.*6267C>A p.? p.? 5 8735 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs73841587 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.844 238 PASS . . . . . . . . . . . . . . . . 0.2682927 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . UTR_3_PRIME(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|NM_001290210.ex.6) . . . . . . . -0.4692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic UTR3 . . . @ . . . 0.46 0.44 182 ENSG00000227124 . ZNF717 ENST00000477374:c.*2C>A dist\x3d51308\x3bdist\x3d6267 NM_001290210:c.*2C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73841587 0.098 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . 0.098 . rs73841587 rs73841587 rs144623265 1 1538 10 1/0 0,250,255 +. 3 75779777 TA T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion downstream GRCh37 75779778 75779778 Chr3(GRCh37):g.75779778del *6251 *6251 NM_001128223.2:c.*6251del p.? p.? 5 8719 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 T 255 Pass . . . . . . . . . . . . . . . . 0.7 . . . 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 70 . . INTRON(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000227124 . ZNF717 . dist\x3d51324\x3bdist\x3d6251 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147133731 0.467 0.464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 rs33966701 rs33966701 rs33966701 rs147133731 1 1538 10 1.I 0,10,15 +rs141311667 3 75779788 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75779788 75779788 Chr3(GRCh37):g.75779788G>C *6241 *6241 NM_001128223.2:c.*6241C>G p.? p.? 5 8709 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs141311667 no no 0 G 0.000000 0 transversion C G C>G 0.055 -0.844 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . INTRON(MODIFIER||||ZNF717|mRNA|CODING|NM_001290210|) . . . . . . . -0.4265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.49 0.22 182 ENSG00000227124 . ZNF717 . dist\x3d51334\x3bdist\x3d6241 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs141311667 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.011 rs4847437 rs4847437 rs141311667 rs141311667 1 1538 10 1/0 0,250,255 +. 3 75781138 A AT - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 duplication downstream GRCh37 75781138 75781139 Chr3(GRCh37):g.75781139dup *4890 *4890 NM_001128223.2:c.*4890dup p.? p.? 5 7358 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs148038933 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . . . . . 0.22352941 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000227124 . ZNF717 . dist\x3d52684\x3bdist\x3d4891 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs148038933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148038933 rs148038933 1 1538 10 1.I 0,8,65 +rs74413854 3 75781145 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781145 75781145 Chr3(GRCh37):g.75781145C>G *4884 *4884 NM_001128223.2:c.*4884G>C p.? p.? 5 7352 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs74413854 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.146 0.125 220 PASS . . . . . . . . . . . . . . . . 0.21518987 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.2817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.3 0.18 182 ENSG00000227124 . ZNF717 . dist\x3d52691\x3bdist\x3d4884 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs74413854 0.076 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.076 . . rs74413854 rs188151413 1 1538 10 1/0 0,247,255 +rs78304757 3 75781149 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781149 75781149 Chr3(GRCh37):g.75781149T>A *4880 *4880 NM_001128223.2:c.*4880A>T p.? p.? 5 7348 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs78304757 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.142 0.125 255 PASS . . . . . . . . . . . . . . . . 0.38372093 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.2881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.29 0.15 182 ENSG00000227124 . ZNF717 . dist\x3d52695\x3bdist\x3d4880 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs78304757 0.130 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.13 . . rs78304757 rs140703330 1 1538 10 1/0 0,255,255 +. 3 75781152 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781152 75781152 Chr3(GRCh37):g.75781152A>G *4877 *4877 NM_001128223.2:c.*4877T>C p.? p.? 5 7345 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition T C T>C 0.138 0.125 218 PASS . . . . . . . . . . . . . . . . 0.20987654 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . -0.2925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.25 0.17 182 ENSG00000227124 . ZNF717 . dist\x3d52698\x3bdist\x3d4877 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs146878854 0.076 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . 0.076 rs2890206 rs2890206 rs77672199 rs146878854 1 1538 10 1/0 0,245,255 +rs62250083 3 75781173 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781173 75781173 Chr3(GRCh37):g.75781173G>T *4856 *4856 NM_001128223.2:c.*4856C>A p.? p.? 5 7324 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs62250083 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.114 0.125 255 PASS . . . . . . . . . . . . . . . . 0.6448598 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.3077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.26 0.12 182 ENSG00000227124 . ZNF717 . dist\x3d52719\x3bdist\x3d4856 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs62250083 0.326 0.290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs62250083 rs62250083 rs62250083 rs202102626 1 1538 10 1/0 0,255,255 +rs74880772 3 75781180 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781180 75781180 Chr3(GRCh37):g.75781180T>G *4849 *4849 NM_001128223.2:c.*4849A>C p.? p.? 5 7317 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs74880772 yes no Frequency 1 T 0.000000 0 transversion A C A>C 0.087 0.125 255 PASS . . . . . . . . . . . . . . . . 0.44036698 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.3320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.27 0.14 182 ENSG00000227124 . ZNF717 . dist\x3d52726\x3bdist\x3d4849 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs74880772 0.152 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 rs1906782 rs1906782 rs74880772 rs200635110 1 1538 10 1/0 0,252,255 +rs75946221 3 75781186 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781186 75781186 Chr3(GRCh37):g.75781186G>A *4843 *4843 NM_001128223.2:c.*4843C>T p.? p.? 5 7311 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs75946221 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.063 0.125 215 PASS . . . . . . . . . . . . . . . . 0.1981982 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.3468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.26 0.1 182 ENSG00000227124 . ZNF717 . dist\x3d52732\x3bdist\x3d4843 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs75946221 0.174 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . 0.17 rs1906781 rs1906781 rs75946221 rs145628199 1 1538 10 1/0 0,230,255 +rs62250085 3 75781243 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781243 75781243 Chr3(GRCh37):g.75781243T>C *4786 *4786 NM_001128223.2:c.*4786A>G p.? p.? 5 7254 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Weakly Activated 75781232 5.25327 0.75878 82.2851 6.49891 0.814095 82.2851 rs62250085 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.122 0.125 255 PASS . . . . . . . . . . . ENSG00000227124:ENST00000477374:exon5:c.A307G:p.I103V . ZNF717:NM_001290210:exon5:c.A307G:p.I103V . . 0.42592594 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.001 . . 108.0 . . . . . . . . . . -0.8210 -1.040 -0.821 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.008 . . exonic intergenic exonic . . . @ . . . 0.25 0.19 182 ENSG00000227124 . ZNF717 . dist\x3d52789\x3bdist\x3d4786 . 1.000 0.417 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.116 0.005 . . 37 . 0.007 . . 0.464 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.087 . . . . . . . 0.227 . HET . rs62250085 0.217 0.210 . . . . . . . . . . . . ENST00000477374 . . . 0.560000 . . . . . . 0.033 . . . . . . . . . . . . . . . . . . . . . . 0.372 . 0.103 0.103000 . . 0.560000 . . 1.0E-255 0.175 0.238 . 0.219 0.197 . 0.159 . 0.246 0.103 0.062 0.22 rs62250085 rs62250085 rs62250085 rs150979925 1 1538 10 1/0 0,253,255 +rs79724453 3 75781272 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781272 75781272 Chr3(GRCh37):g.75781272C>A *4757 *4757 NM_001128223.2:c.*4757G>T p.? p.? 5 7225 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79724453 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.020 0.125 244 PASS . . . . . . . . . . . ENSG00000227124:ENST00000477374:exon5:c.G278T:p.G93V . ZNF717:NM_001290210:exon5:c.G278T:p.G93V . . 0.28723404 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.109 . @ . . . . . 1 0.073 . . 94.0 . . . . . . . . . . -0.8548 -1.095 -0.855 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.008 . . exonic intergenic exonic . . . @ . . . 0.23 0.15 182 ENSG00000227124 . ZNF717 . dist\x3d52818\x3bdist\x3d4757 . 1.000 0.417 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.007 . . 0.477 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.486 . . . . . . . 0.261 . HET . rs79724453 0.217 0.203 . . . . . . . . . . . . ENST00000477374 . . . 0.470000 . . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . 0.372 . 0.119 0.119000 . . 0.470000 . . 1.0000000000000001E-244 0.024 0.198 . 0.128 0.055 . 0.159 . 0.240 0.119 0.057 0.22 rs1906780 rs1906780 rs79724453 rs138244060 1 1538 10 1/0 0,246,255 +rs111349601 3 75781300 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75781300 75781300 Chr3(GRCh37):g.75781300T>C *4729 *4729 NM_001128223.2:c.*4729A>G p.? p.? 5 7197 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 New Acceptor Site 75781299 8.12225 0.520981 74.9594 rs111349601 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.016 0.125 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.3835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.27 0.13 182 ENSG00000227124 . ZNF717 . dist\x3d52846\x3bdist\x3d4729 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs111349601 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . 0.011 rs4011143 rs4011143 rs111349601 rs111349601 1 1538 10 1/0 0,250,255 +rs79959645 3 75785999 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75785999 75785999 Chr3(GRCh37):g.75785999A>G -1432 -1432 NR_036235.1:n.-1432A>G p.? p.? 1 rs79959645 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18596 2970 3380 442 1776 1880 7302 302 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 44 Exomes transition A G A>G 0.000 0.448 248 PASS . . . . . . . . . . . . . . . . 0.30097088 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.0276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.36 0.53 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*30T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs79959645 0.196 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.2 . . rs79959645 rs201598653 1 1538 10 1/0 0,242,255 +rs79959645 3 75785999 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75785999 75785999 Chr3(GRCh37):g.75785999A>G *30 *30 NM_001128223.2:c.*30T>C p.? p.? 5 2498 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79959645 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18596 2970 3380 442 1776 1880 7302 302 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 44 Exomes transition T C T>C 0.000 0.448 248 PASS . . . . . . . . . . . . . . . . 0.30097088 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.0276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.36 0.53 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*30T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs79959645 0.196 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.2 . . rs79959645 rs201598653 1 1538 10 1/0 0,242,255 +. 3 75786007 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786007 75786007 Chr3(GRCh37):g.75786007C>T -1424 -1424 NR_036235.1:n.-1424C>T p.? p.? 1 transition C T C>T 0.000 -0.360 251 PASS . . . . . . . . . . . . . . . . 0.3084112 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.1954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.29 0.54 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*22G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs199857928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs79144452 rs199857928 1 1538 10 1/0 0,241,255 +. 3 75786007 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75786007 75786007 Chr3(GRCh37):g.75786007C>T *22 *22 NM_001128223.2:c.*22G>A p.? p.? 5 2490 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 New Acceptor Site 75786005 3.83885 0.317394 72.7785 transition G A G>A 0.000 -0.360 251 PASS . . . . . . . . . . . . . . . . 0.3084112 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.1954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.29 0.54 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*22G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs199857928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs79144452 rs199857928 1 1538 10 1/0 0,241,255 +. 3 75786008 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786008 75786008 Chr3(GRCh37):g.75786008A>G -1423 -1423 NR_036235.1:n.-1423A>G p.? p.? 1 transition A G A>G 0.000 -1.732 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . -0.6127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.33 0.5 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*21T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs201202549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs79244583 rs201202549 1 1538 10 1/0 0,238,255 +. 3 75786008 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75786008 75786008 Chr3(GRCh37):g.75786008A>G *21 *21 NM_001128223.2:c.*21T>C p.? p.? 5 2489 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition T C T>C 0.000 -1.732 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . -0.6127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.33 0.5 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*21T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs201202549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs79244583 rs201202549 1 1538 10 1/0 0,238,255 +rs76880869 3 75786019 G C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786019 75786019 Chr3(GRCh37):g.75786019G>C -1412 -1412 NR_036235.1:n.-1412G>C p.? p.? 1 rs76880869 no no 0 G 0.000000 0 transversion G C G>C 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.38679245 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.1386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.38 0.51 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*10C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs76880869 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76880869 rs142183924 1 1538 10 1/0 0,248,255 +rs76880869 3 75786019 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75786019 75786019 Chr3(GRCh37):g.75786019G>C *10 *10 NM_001128223.2:c.*10C>G p.? p.? 5 2478 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76880869 no no 0 G 0.000000 0 transversion C G C>G 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.38679245 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.1386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.38 0.51 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*10C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs76880869 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76880869 rs142183924 1 1538 10 1/0 0,248,255 +. 3 75786020 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786020 75786020 Chr3(GRCh37):g.75786020G>A -1411 -1411 NR_036235.1:n.-1411G>A p.? p.? 1 transition G A G>A 0.000 0.205 231 PASS . . . . . . . . . . . . . . . . 0.24770643 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.0200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.38 0.51 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*9C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs151189863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs9970300 rs9970300 rs75933393 rs151189863 1 1538 10 1/0 0,235,255 +. 3 75786020 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution downstream GRCh37 75786020 75786020 Chr3(GRCh37):g.75786020G>A *9 *9 NM_001128223.2:c.*9C>T p.? p.? 5 2477 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition C T C>T 0.000 0.205 231 PASS . . . . . . . . . . . . . . . . 0.24770643 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.0200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intronic . . . @ . . . 0.38 0.51 182 ENSG00000227124 ZNF717 ZNF717 ENST00000478296:c.*9C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs151189863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs9970300 rs9970300 rs75933393 rs151189863 1 1538 10 1/0 0,235,255 +. 3 75786035 G GAA - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 duplication upstream GRCh37 75786041 75786042 Chr3(GRCh37):g.75786040_75786041dup -1391 -1390 NR_036235.1:n.-1391_-1390dup p.? p.? 1 AA 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2738_2739insTT:p.F913fs . . . 0.3761468 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,42 +. 3 75786035 G GAA - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 duplication frameshift exon GRCh37 75786035 75786036 Chr3(GRCh37):g.75786036_75786037dup 2737 2738 NM_001128223.2:c.2737_2738dup p.Pro914Serfs*? p.Pro914Serfs*? 5 2461 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 TT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2738_2739insTT:p.F913fs . . . 0.3761468 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,42 +rs113748085 3 75786036 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786036 75786036 Chr3(GRCh37):g.75786036A>G -1395 -1395 NR_036235.1:n.-1395A>G p.? p.? 1 rs113748085 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.000 0.286 199 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2738C:p.F913S . . . 0.1574074 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.280 . @ . . . . . 1 0.203 . . 108.0 . . . . . . . . . . -1.0460 -1.207 -1.046 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.132 @ . . . 0.24 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.026 . . 0.427 . . . 0.710 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.049 . . 0 0 0 0 0 0 . 0.475 . . 0.342 . . . . . . 1 0.506 . . . . . 0.118 . 0.586 . HET 0 rs113748085 . . . . . . . . . . . . IV.44 . . I.43 -0.0291 . 0.000000 C9JSV9 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.143 -0.143000 . . 0.000000 . . 1.0E-199 0.000 0.063 . 0.137 0.232 . 0.020 . 0.287 -0.143 0.066 . . . rs113748085 rs113748085 1 1538 10 1/0 0,228,255 +rs113748085 3 75786036 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786036 75786036 Chr3(GRCh37):g.75786036A>G 2738 2738 NM_001128223.2:c.2738T>C p.Phe913Ser p.Phe913Ser 5 2461 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs113748085 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.000 0.286 F Phe TTC 0.546 S Ser TCC 0.220 913 10 1 -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 353.86 0.00 Tolerated 0.34 IV.32 199 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2738C:p.F913S . . . 0.1574074 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.280 . @ . . . . . 1 0.203 . . 108.0 . . . . . . . . . . -1.0460 -1.207 -1.046 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.132 @ . . . 0.24 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.026 . . 0.427 . . . 0.710 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.049 . . 0 0 0 0 0 0 . 0.475 . . 0.342 . . . . . . 1 0.506 . . . . . 0.118 . 0.586 . HET 0 rs113748085 . . . . . . . . . . . . IV.44 . . I.43 -0.0291 . 0.000000 C9JSV9 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.143 -0.143000 . . 0.000000 . . 1.0E-199 0.000 0.063 . 0.137 0.232 . 0.020 . 0.287 -0.143 0.066 . . . rs113748085 rs113748085 1 1538 10 1/0 0,228,255 +. 3 75786041 AG A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75786042 75786042 Chr3(GRCh37):g.75786042del -1389 -1389 NR_036235.1:n.-1389del p.? p.? 1 rs150497643 no no 0 G 0.000000 0 G 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2732delC:p.S911fs . . . 0.15929204 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150497643 0.033 0.022 . . . . ID\x3dCOSM1425316\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . rs67410759 rs67410759 rs150497643 1 1538 10 1.I 0,6,80 +. 3 75786041 AG A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion frameshift exon GRCh37 75786042 75786042 Chr3(GRCh37):g.75786042del 2732 2732 NM_001128223.2:c.2732del p.Ser911Phefs*? p.Ser911Phefs*? 5 2455 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs150497643 no no 0 G 0.000000 0 C 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2732delC:p.S911fs . . . 0.15929204 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150497643 0.033 0.022 . . . . ID\x3dCOSM1425316\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . rs67410759 rs67410759 rs150497643 1 1538 10 1.I 0,6,80 +rs77747132 3 75786042 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786042 75786042 Chr3(GRCh37):g.75786042G>A -1389 -1389 NR_036235.1:n.-1389G>A p.? p.? 1 rs77747132 no no 0 G 0.000000 0 transition G A G>A 0.000 0.367 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2732T:p.S911F . . . 0.5 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.460 . @ . . . . . 1 0.547 . . 112.0 . . . . . . . . . . -1.2399 -1.319 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . 0.105 @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.039 . . 0.439 . . . 0.902 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.178 . . 0.063 . . . . . . 1 0.427 . . . . . 0.160 . 0.526 . HET 0 rs77747132 0.011 0.007 . . . . . . . . . . V.86 . . I.54 -0.734 . 0.300000 C9JSV9 . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.244 -0.244000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.090 0.253 . 0.054 . 0.282 -0.244 0.060 0.011 . . rs77747132 rs140243156 1 1538 10 1/0 0,255,255 +rs77747132 3 75786042 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786042 75786042 Chr3(GRCh37):g.75786042G>A 2732 2732 NM_001128223.2:c.2732C>T p.Ser911Phe p.Ser911Phe 5 2455 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77747132 no no 0 G 0.000000 0 transition C T C>T 0.000 0.367 S Ser TCT 0.185 F Phe TTT 0.454 911 10 2 Cat -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C0 353.86 0.00 Deleterious 0.01 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2732T:p.S911F . . . 0.5 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.460 . @ . . . . . 1 0.547 . . 112.0 . . . . . . . . . . -1.2399 -1.319 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . 0.105 @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.039 . . 0.439 . . . 0.902 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.178 . . 0.063 . . . . . . 1 0.427 . . . . . 0.160 . 0.526 . HET 0 rs77747132 0.011 0.007 . . . . . . . . . . V.86 . . I.54 -0.734 . 0.300000 C9JSV9 . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.244 -0.244000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.090 0.253 . 0.054 . 0.282 -0.244 0.060 0.011 . . rs77747132 rs140243156 1 1538 10 1/0 0,255,255 +rs73843008 3 75786059 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786059 75786059 Chr3(GRCh37):g.75786059C>T -1372 -1372 NR_036235.1:n.-1372C>T p.? p.? 1 rs73843008 no no 0 C 0.000000 0 transition C T C>T 0.000 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2715A:p.V905V . . . 0.6813187 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.1097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73843008 0.250 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.25 . rs73843008 rs73843008 rs145338111 1 1538 10 1/0 0,255,254 +rs73843008 3 75786059 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786059 75786059 Chr3(GRCh37):g.75786059C>T 2715 2715 NM_001128223.2:c.2715G>A p.Val905= p.Val905Val 5 2438 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs73843008 no no 0 C 0.000000 0 transition G A G>A 0.000 -0.117 V Val GTG 0.468 V Val GTA 0.114 905 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2715A:p.V905V . . . 0.6813187 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.1097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73843008 0.250 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.25 . rs73843008 rs73843008 rs145338111 1 1538 10 1/0 0,255,254 +. 3 75786060 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786060 75786060 Chr3(GRCh37):g.75786060A>G -1371 -1371 NR_036235.1:n.-1371A>G p.? p.? 1 transition A G A>G 0.000 1.335 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2714C:p.V905A . . . 0.46078432 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.115 . . 102.0 . . . . . . . . . . -1.2089 -1.231 -1.209 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.060 . . exonic exonic exonic . . 0.235 @ . . . 0.28 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.026 . . 0.426 . . . 0.041 0.195 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.245 . . 0.133 . . . . . . 1 0.010 . . . . . 0.252 . 0.599 . HET 0.31 rs137915102 . . . . . . . . . . . . VII.77 . . I.73 I.73 . 1.000000 C9JSV9 . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.823 0.823000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.122 0.280 . 0.071 . 0.287 0.823 0.066 . . . rs76046078 rs137915102 1 1538 10 1/0 0,255,255 +. 3 75786060 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786060 75786060 Chr3(GRCh37):g.75786060A>G 2714 2714 NM_001128223.2:c.2714T>C p.Val905Ala p.Val905Ala 5 2437 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition T C T>C 0.000 1.335 V Val GTG 0.468 A Ala GCG 0.107 905 10 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.22 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2714C:p.V905A . . . 0.46078432 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.115 . . 102.0 . . . . . . . . . . -1.2089 -1.231 -1.209 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.060 . . exonic exonic exonic . . 0.235 @ . . . 0.28 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.026 . . 0.426 . . . 0.041 0.195 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.245 . . 0.133 . . . . . . 1 0.010 . . . . . 0.252 . 0.599 . HET 0.31 rs137915102 . . . . . . . . . . . . VII.77 . . I.73 I.73 . 1.000000 C9JSV9 . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.823 0.823000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.122 0.280 . 0.071 . 0.287 0.823 0.066 . . . rs76046078 rs137915102 1 1538 10 1/0 0,255,255 +rs111230396 3 75786071 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786071 75786071 Chr3(GRCh37):g.75786071C>A -1360 -1360 NR_036235.1:n.-1360C>A p.? p.? 1 rs111230396 no no 0 C 0.000000 0 transversion C A C>A 0.000 0.770 239 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2703T:p.E901D . . . 0.27027026 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.161 . @ . . . . . 1 0.186 . . 111.0 . . . . . . . . . . -1.2254 -1.326 -1.225 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . 0.123 @ . . . 0.24 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.036 . . 0.413 . . . 0.385 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.247 . . 0.112 . . . . . . 1 0.145 . . . . . 0.059 . 0.599 . HET 0 rs111230396 0.239 0.225 . . . . . . . . . . 3.1153 . . 0.741 -0.249 . 0.170000 C9JSV9 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.078 -0.078000 . . 0.170000 . . 1.0E-239 0.001 0.137 . 0.062 0.272 . 0.332 . 0.279 -0.078 0.057 0.24 . . rs111230396 rs111230396 1 1538 10 1/0 0,237,255 +rs111230396 3 75786071 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786071 75786071 Chr3(GRCh37):g.75786071C>A 2703 2703 NM_001128223.2:c.2703G>T p.Glu901Asp p.Glu901Asp 5 2426 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs111230396 no no 0 C 0.000000 0 transversion G T G>T 0.000 0.770 E Glu GAG 0.583 D Asp GAT 0.461 901 10 1 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.25 IV.32 239 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2703T:p.E901D . . . 0.27027026 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.161 . @ . . . . . 1 0.186 . . 111.0 . . . . . . . . . . -1.2254 -1.326 -1.225 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.070 . . exonic exonic exonic . . 0.123 @ . . . 0.24 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.036 . . 0.413 . . . 0.385 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.247 . . 0.112 . . . . . . 1 0.145 . . . . . 0.059 . 0.599 . HET 0 rs111230396 0.239 0.225 . . . . . . . . . . 3.1153 . . 0.741 -0.249 . 0.170000 C9JSV9 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.078 -0.078000 . . 0.170000 . . 1.0E-239 0.001 0.137 . 0.062 0.272 . 0.332 . 0.279 -0.078 0.057 0.24 . . rs111230396 rs111230396 1 1538 10 1/0 0,237,255 +. 3 75786079 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786079 75786079 Chr3(GRCh37):g.75786079C>T -1352 -1352 NR_036235.1:n.-1352C>T p.? p.? 1 0.000222 0.000804 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000804 2 2 0 0 0 0 0 0 0 9004 2488 286 38 182 0 3624 2050 336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition C T C>T 0.000 0.125 233 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2695A:p.V899I . . . 0.25233644 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.287 . @ . . . . . 1 0.205 . . 107.0 . . . . . . . . . . -1.2245 -1.312 -1.224 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.153 @ . . . 0.33 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.029 . . 0.414 . . . 0.165 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.061 . . 0 0 0 0 0 0 . 0.285 . . 0.121 . . . . . . 1 0.112 . . . . . 0.080 . 0.555 . HET 0.49 rs202061186 . . . . . . . . . . . . III.87 . . I.29 0.364 . 0.000000 C9JSV9 . . . . . 0.007 . . . . . . . . . . . . 0.0008 0.0002 0 0 0 0 0 0 . . 0.310 . 0.148 0.148000 . . 0.000000 . . 1.0000000000000001E-233 0.000 0.063 . 0.043 0.255 . 0.086 . 0.279 0.148 0.057 . . . rs74593105 rs202061186 1 1538 10 1/0 0,237,255 +. 3 75786079 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786079 75786079 Chr3(GRCh37):g.75786079C>T 2695 2695 NM_001128223.2:c.2695G>A p.Val899Ile p.Val899Ile 5 2418 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 0.000222 0.000804 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000804 2 2 0 0 0 0 0 0 0 9004 2488 286 38 182 0 3624 2050 336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition G A G>A 0.000 0.125 V Val GTA 0.114 I Ile ATA 0.163 899 10 2 Rabbit 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.66 III.95 233 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2695A:p.V899I . . . 0.25233644 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.287 . @ . . . . . 1 0.205 . . 107.0 . . . . . . . . . . -1.2245 -1.312 -1.224 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.153 @ . . . 0.33 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.029 . . 0.414 . . . 0.165 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.061 . . 0 0 0 0 0 0 . 0.285 . . 0.121 . . . . . . 1 0.112 . . . . . 0.080 . 0.555 . HET 0.49 rs202061186 . . . . . . . . . . . . III.87 . . I.29 0.364 . 0.000000 C9JSV9 . . . . . 0.007 . . . . . . . . . . . . 0.0008 0.0002 0 0 0 0 0 0 . . 0.310 . 0.148 0.148000 . . 0.000000 . . 1.0000000000000001E-233 0.000 0.063 . 0.043 0.255 . 0.086 . 0.279 0.148 0.057 . . . rs74593105 rs202061186 1 1538 10 1/0 0,237,255 +rs2118754 3 75786080 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786080 75786080 Chr3(GRCh37):g.75786080G>A -1351 -1351 NR_036235.1:n.-1351G>A p.? p.? 1 rs2118754 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.000055 0.000000 0.000000 0.000000 0.000304 0.000000 0.000072 0.000000 0.000000 0.000304 2 0 0 0 1 0 1 0 0 36360 6230 6052 708 3292 2860 13814 2290 1114 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.054 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2694T:p.D898D . . . 0.7685185 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . -0.8175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.3794 . . . 0.31 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs144586950 0.141 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0003 0 0 0.0076 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs2118754 rs144586950 1 1538 10 1/0 0,255,255 +rs2118754 3 75786080 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786080 75786080 Chr3(GRCh37):g.75786080G>A 2694 2694 NM_001128223.2:c.2694C>T p.Asp898= p.Asp898Asp 5 2417 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs2118754 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.000055 0.000000 0.000000 0.000000 0.000304 0.000000 0.000072 0.000000 0.000000 0.000304 2 0 0 0 1 0 1 0 0 36360 6230 6052 708 3292 2860 13814 2290 1114 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.054 D Asp GAC 0.539 D Asp GAT 0.461 898 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2694T:p.D898D . . . 0.7685185 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . -0.8175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.3794 . . . 0.31 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs144586950 0.141 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0003 0 0 0.0076 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs2118754 rs144586950 1 1538 10 1/0 0,255,255 +rs77715040 3 75786211 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786211 75786211 Chr3(GRCh37):g.75786211A>G -1220 -1220 NR_036235.1:n.-1220A>G p.? p.? 1 rs77715040 no no 0 A 0.000000 0 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000058 0.000000 0.000000 0.000058 1 0 0 0 0 0 1 0 0 43374 4984 8878 1070 5044 4074 17382 712 1230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition A G A>G 0.000 -0.279 238 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2563C:p.S855P . . . 0.26804122 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.505 . @ . . . . . 1 0.385 . . 97.0 . . . . . . . . . . -0.7711 -0.955 -0.771 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.225 @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.140 . . 0.165 . . . 0.433 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.635 . . 0 0 0 0 0 0 . 0.273 . . 0.247 . . . . . . 1 0.538 . . . . . 0.255 . 0.623 . HET 0.15 rs77715040 0.033 0.036 . . . . . . . . . . 7.316 . . I.59 I.59 . 0.000000 C9JSV9 . . . . . 0.032 . . . 0 2.306e-05 0 0 0 0 5.753e-05 0 0 . . . . . . . . . . 0.553 . 1.020 1.020000 . . 0.000000 . . 1.0E-238 0.000 0.063 . 0.074 0.308 . 0.007 . 0.288 1.020 -0.597 0.033 . . rs77715040 rs147483742 1 1538 10 1/0 0,242,255 +rs77715040 3 75786211 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786211 75786211 Chr3(GRCh37):g.75786211A>G 2563 2563 NM_001128223.2:c.2563T>C p.Ser855Pro p.Ser855Pro 5 2286 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77715040 no no 0 A 0.000000 0 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000058 0.000000 0.000000 0.000058 1 0 0 0 0 0 1 0 0 43374 4984 8878 1070 5044 4074 17382 712 1230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition T C T>C 0.000 -0.279 S Ser TCA 0.148 P Pro CCA 0.274 855 10 7 Opossum -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 154.81 0.00 Deleterious 0.03 III.85 238 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2563C:p.S855P . . . 0.26804122 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.505 . @ . . . . . 1 0.385 . . 97.0 . . . . . . . . . . -0.7711 -0.955 -0.771 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.225 @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.140 . . 0.165 . . . 0.433 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.635 . . 0 0 0 0 0 0 . 0.273 . . 0.247 . . . . . . 1 0.538 . . . . . 0.255 . 0.623 . HET 0.15 rs77715040 0.033 0.036 . . . . . . . . . . 7.316 . . I.59 I.59 . 0.000000 C9JSV9 . . . . . 0.032 . . . 0 2.306e-05 0 0 0 0 5.753e-05 0 0 . . . . . . . . . . 0.553 . 1.020 1.020000 . . 0.000000 . . 1.0E-238 0.000 0.063 . 0.074 0.308 . 0.007 . 0.288 1.020 -0.597 0.033 . . rs77715040 rs147483742 1 1538 10 1/0 0,242,255 +rs76757483 3 75786225 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786225 75786225 Chr3(GRCh37):g.75786225G>A -1206 -1206 NR_036235.1:n.-1206G>A p.? p.? 1 rs76757483 no no 0 G 0.000000 0 transition G A G>A 0.000 -1.167 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2549T:p.T850I . . . 0.58947366 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.352 . @ . . . . . 1 0.366 . . 95.0 . . . . . . . . . . -1.1732 -1.408 -1.173 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.048 @ . . . 0.32 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.014 . . 0.377 . . . 0.410 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.341 . . 0.367 . . . . . . 1 0.465 . . . . . 0.012 . 0.535 . HET 0.03 rs76757483 0.065 0.051 . . . . . . . . . . 0.9197 . . I.59 -3.19 . 0.000000 C9JSV9 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -1.280 -1.280000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.135 0.265 . 0.049 . 0.284 -1.280 -0.219 0.065 . . rs76757483 rs145360192 1 1538 10 1/0 0,255,255 +rs76757483 3 75786225 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786225 75786225 Chr3(GRCh37):g.75786225G>A 2549 2549 NM_001128223.2:c.2549C>T p.Thr850Ile p.Thr850Ile 5 2272 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786214 0.405394 0.032027 79.9952 1.14651 0.098923 84.0971 Zinc finger, C2H2 Zinc finger, C2H2-like rs76757483 no no 0 G 0.000000 0 transition C T C>T 0.000 -1.167 T Thr ACT 0.243 I Ile ATT 0.356 850 10 6 Cow -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 116.80 69.06 Deleterious 0.01 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2549T:p.T850I . . . 0.58947366 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.352 . @ . . . . . 1 0.366 . . 95.0 . . . . . . . . . . -1.1732 -1.408 -1.173 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.048 @ . . . 0.32 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.014 . . 0.377 . . . 0.410 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.341 . . 0.367 . . . . . . 1 0.465 . . . . . 0.012 . 0.535 . HET 0.03 rs76757483 0.065 0.051 . . . . . . . . . . 0.9197 . . I.59 -3.19 . 0.000000 C9JSV9 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -1.280 -1.280000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.135 0.265 . 0.049 . 0.284 -1.280 -0.219 0.065 . . rs76757483 rs145360192 1 1538 10 1/0 0,255,255 +rs139633377 3 75786243 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786243 75786243 Chr3(GRCh37):g.75786243C>T -1188 -1188 NR_036235.1:n.-1188C>T p.? p.? 1 rs139633377 no no 0 C 0.000000 0 transition C T C>T 0.606 2.304 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2531A:p.C844Y . . . 0.29787233 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.546 . @ . . . . . 1 0.199 . . 94.0 . . . . . . . . . . 0.1272 -0.201 0.127 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.162 @ . . . 0.29 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.078 0.003 . . 37 . 0.922 . . 0.812 . . . 0.971 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.951 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.170 . 0.480 . HET 0 rs139633377 . . . . . . . . . . . . V.69 . . I.46 0.518 . 0.010000 C9JSV9 . . . . . 0.203 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.202 0.202000 . . 0.010000 . . 1.0E-230 0.993 0.376 . 0.142 0.626 . 0.567 . 0.279 0.202 -0.269 . . . rs139633377 rs139633377 1 1538 10 1/0 0,247,255 +rs139633377 3 75786243 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786243 75786243 Chr3(GRCh37):g.75786243C>T 2531 2531 NM_001128223.2:c.2531G>A p.Cys844Tyr p.Cys844Tyr 5 2254 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs139633377 no no 0 C 0.000000 0 transition G A G>A 0.606 2.304 C Cys TGT 0.448 Y Tyr TAT 0.438 844 10 1 -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 353.86 0.00 Not scored 0.0 0.0 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2531A:p.C844Y . . . 0.29787233 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.546 . @ . . . . . 1 0.199 . . 94.0 . . . . . . . . . . 0.1272 -0.201 0.127 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.162 @ . . . 0.29 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.078 0.003 . . 37 . 0.922 . . 0.812 . . . 0.971 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.951 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.170 . 0.480 . HET 0 rs139633377 . . . . . . . . . . . . V.69 . . I.46 0.518 . 0.010000 C9JSV9 . . . . . 0.203 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.202 0.202000 . . 0.010000 . . 1.0E-230 0.993 0.376 . 0.142 0.626 . 0.567 . 0.279 0.202 -0.269 . . . rs139633377 rs139633377 1 1538 10 1/0 0,247,255 +rs149660902 3 75786245 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786245 75786245 Chr3(GRCh37):g.75786245T>A -1186 -1186 NR_036235.1:n.-1186T>A p.? p.? 1 rs149660902 no no 0 T 0.000000 0 transversion T A T>A 0.000 -0.682 248 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2529T:p.R843S . . . 0.3 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.222 . @ . . . . . 1 0.120 . . 90.0 . . . . . . . . . . -1.5686 -1.655 -1.569 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.144 . . exonic exonic exonic . . 0.078 @ . . . 0.28 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.021 0.001 . . 37 . 0.058 . . 0.381 . . . 0.090 0.290 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.026 . . 0.080 . . . . . . 1 0.081 . . . . . 0.000 . 0.529 . HET 0.64 rs149660902 . . . . . . . . . . . . 0.0983 . . I.46 -1.65 . 0.170000 C9JSV9 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -0.344 -0.344000 . . 0.170000 . . 1.0E-248 0.000 0.063 . 0.062 0.666 . 0.021 . 0.016 -0.344 0.615 . . . rs149660902 rs149660902 1 1538 10 1/0 0,248,255 +rs149660902 3 75786245 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786245 75786245 Chr3(GRCh37):g.75786245T>A 2529 2529 NM_001128223.2:c.2529A>T p.Arg843Ser p.Arg843Ser 5 2252 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Weakly Activated 75786230 2.46109 0.000125 69.7594 2.59982 0.000812 69.7594 Zinc finger, C2H2 Zinc finger, C2H2-like rs149660902 no no 0 T 0.000000 0 transversion A T A>T 0.000 -0.682 R Arg AGA 0.205 S Ser AGT 0.149 843 10 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Not scored 0.0 0.0 248 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2529T:p.R843S . . . 0.3 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.222 . @ . . . . . 1 0.120 . . 90.0 . . . . . . . . . . -1.5686 -1.655 -1.569 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.144 . . exonic exonic exonic . . 0.078 @ . . . 0.28 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.021 0.001 . . 37 . 0.058 . . 0.381 . . . 0.090 0.290 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.026 . . 0.080 . . . . . . 1 0.081 . . . . . 0.000 . 0.529 . HET 0.64 rs149660902 . . . . . . . . . . . . 0.0983 . . I.46 -1.65 . 0.170000 C9JSV9 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -0.344 -0.344000 . . 0.170000 . . 1.0E-248 0.000 0.063 . 0.062 0.666 . 0.021 . 0.016 -0.344 0.615 . . . rs149660902 rs149660902 1 1538 10 1/0 0,248,255 +rs113251431 3 75786256 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786256 75786256 Chr3(GRCh37):g.75786256T>A -1175 -1175 NR_036235.1:n.-1175T>A p.? p.? 1 rs113251431 no no 0 T 0.000000 0 transversion T A T>A 1.000 3.192 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2518T:p.K840X . . . 0.34444445 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.478 . . 90.0 . . . . . . . . . . 0.1882 -0.155 0.188 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.225 @ . . . 0.26 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.255 . . . HET 0 rs113251431 0.098 0.101 . . . . . . . . . . 7.316 . . I.59 I.59 . 1.000000 . . . . . . 0.275 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 1.020 1.020000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.114 0.880 . 0.499 . 0.283 1.020 0.615 0.098 . . rs113251431 rs113251431 1 1538 10 1/0 0,252,255 +rs113251431 3 75786256 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75786256 75786256 Chr3(GRCh37):g.75786256T>A 2518 2518 NM_001128223.2:c.2518A>T p.Lys840* p.Lys840* 5 2241 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786245 0.000544 59.3311 0.431852 0.005552 66.0025 Zinc finger, C2H2 rs113251431 no no 0 T 0.000000 0 transversion A T A>T 1.000 3.192 K Lys AAA 0.425 * * TAA 0.277 840 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2518T:p.K840X . . . 0.34444445 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.478 . . 90.0 . . . . . . . . . . 0.1882 -0.155 0.188 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.225 @ . . . 0.26 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.255 . . . HET 0 rs113251431 0.098 0.101 . . . . . . . . . . 7.316 . . I.59 I.59 . 1.000000 . . . . . . 0.275 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 1.020 1.020000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.114 0.880 . 0.499 . 0.283 1.020 0.615 0.098 . . rs113251431 rs113251431 1 1538 10 1/0 0,252,255 +rs78738705 3 75786261 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786261 75786261 Chr3(GRCh37):g.75786261C>T -1170 -1170 NR_036235.1:n.-1170C>T p.? p.? 1 rs78738705 no no 0 C 0.000000 0 transition C T C>T 1.000 2.385 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2513A:p.G838E . . . 0.59090906 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.622 . @ . . . . . 1 0.442 . . 88.0 . . . . . . . . . . -0.4287 -0.678 -0.429 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.170 @ . . . 0.26 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.109 0.004 . . 37 . 0.279 . . 0.155 . . . 0.309 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.858 . . 0 0 0 0 0 0 . 0.588 . . 0.585 . . . . . . 1 0.682 . . . . . 0.180 . 0.433 . HET 0.02 rs78738705 0.141 0.116 . . . . . . . . . . V.61 . . I.59 0.663 . 0.020000 C9JSV9 . . . . . 0.102 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.256 0.256000 . . 0.020000 . . 1.0E-255 0.051 0.212 . 0.108 0.830 . 0.364 . 0.275 0.256 0.542 0.14 . . rs78738705 rs145586593 1 1538 10 1/0 0,255,255 +rs78738705 3 75786261 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786261 75786261 Chr3(GRCh37):g.75786261C>T 2513 2513 NM_001128223.2:c.2513G>A p.Gly838Glu p.Gly838Glu 5 2236 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs78738705 no no 0 C 0.000000 0 transition G A G>A 1.000 2.385 G Gly GGG 0.250 E Glu GAG 0.583 838 10 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2513A:p.G838E . . . 0.59090906 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.622 . @ . . . . . 1 0.442 . . 88.0 . . . . . . . . . . -0.4287 -0.678 -0.429 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.170 @ . . . 0.26 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.109 0.004 . . 37 . 0.279 . . 0.155 . . . 0.309 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.858 . . 0 0 0 0 0 0 . 0.588 . . 0.585 . . . . . . 1 0.682 . . . . . 0.180 . 0.433 . HET 0.02 rs78738705 0.141 0.116 . . . . . . . . . . V.61 . . I.59 0.663 . 0.020000 C9JSV9 . . . . . 0.102 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.256 0.256000 . . 0.020000 . . 1.0E-255 0.051 0.212 . 0.108 0.830 . 0.364 . 0.275 0.256 0.542 0.14 . . rs78738705 rs145586593 1 1538 10 1/0 0,255,255 +rs79811623 3 75786278 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786278 75786278 Chr3(GRCh37):g.75786278A>C -1153 -1153 NR_036235.1:n.-1153A>C p.? p.? 1 rs79811623 no no 0 A 0.000000 0 transversion A C A>C 0.984 0.528 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2496G:p.H832Q . . . 0.8969072 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.108 . . 97.0 . . . . . . . . . . -0.3069 -0.631 -0.307 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.153 @ . . . 0.26 0.14 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.061 0.003 . . 37 . 0.914 . . 0.836 . . . 0.974 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.891 . . 0 0 0 0 0 0 . 0.410 . . 0.513 . . . . . . 1 0.721 . . . . . 0.126 . 0.549 . HOM 0 rs79811623 0.196 0.167 . . . . . . . . . . IV.73 . . I.59 0.372 . 0.000000 C9JSV9 . . . . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.124 0.124000 . . 0.000000 . . 1.0E-255 0.037 0.206 . 0.043 0.516 . 0.141 . 0.285 0.124 -0.542 0.2 . . rs79811623 rs148458108 1 1538 10 1/0 0,255,254 +rs79811623 3 75786278 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786278 75786278 Chr3(GRCh37):g.75786278A>C 2496 2496 NM_001128223.2:c.2496T>G p.His832Gln p.His832Gln 5 2219 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 New Acceptor Site 75786277 2.56008 0.074951 80.9466 Zinc finger, C2H2 Zinc finger, C2H2-like rs79811623 no no 0 A 0.000000 0 transversion T G T>G 0.984 0.528 H His CAT 0.413 Q Gln CAG 0.744 832 10 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2496G:p.H832Q . . . 0.8969072 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.108 . . 97.0 . . . . . . . . . . -0.3069 -0.631 -0.307 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.153 @ . . . 0.26 0.14 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.061 0.003 . . 37 . 0.914 . . 0.836 . . . 0.974 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.891 . . 0 0 0 0 0 0 . 0.410 . . 0.513 . . . . . . 1 0.721 . . . . . 0.126 . 0.549 . HOM 0 rs79811623 0.196 0.167 . . . . . . . . . . IV.73 . . I.59 0.372 . 0.000000 C9JSV9 . . . . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.124 0.124000 . . 0.000000 . . 1.0E-255 0.037 0.206 . 0.043 0.516 . 0.141 . 0.285 0.124 -0.542 0.2 . . rs79811623 rs148458108 1 1538 10 1/0 0,255,254 +rs76707683 3 75786288 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786288 75786288 Chr3(GRCh37):g.75786288A>G -1143 -1143 NR_036235.1:n.-1143A>G p.? p.? 1 rs76707683 no no 0 A 0.000000 0 transition A G A>G 0.008 1.820 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2486C:p.L829P . . . 0.52272725 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.479 . @ . . . . . 1 0.694 . . 88.0 . . . . . . . . . . 0.1392 -0.184 0.139 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.278 . . exonic exonic exonic . . 0.157 @ . . . 0.26 0.16 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.578 . . 0.444 . . . 0.932 0.246 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.830 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.784 . . . . . 0.148 . 0.584 . HET 0 rs76707683 0.087 0.065 . . . . . . . . . . V.81 . . I.77 0.446 . 0.000000 C9JSV9 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.134 0.134000 . . 0.000000 . . 1.0E-255 0.994 0.380 . 0.090 0.777 . 0.737 . 0.285 0.134 0.649 0.087 . . rs76707683 rs147227180 1 1538 10 1/0 0,255,255 +rs76707683 3 75786288 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786288 75786288 Chr3(GRCh37):g.75786288A>G 2486 2486 NM_001128223.2:c.2486T>C p.Leu829Pro p.Leu829Pro 5 2209 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76707683 no no 0 A 0.000000 0 transition T C T>C 0.008 1.820 L Leu CTC 0.197 P Pro CCC 0.328 829 10 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2486C:p.L829P . . . 0.52272725 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.479 . @ . . . . . 1 0.694 . . 88.0 . . . . . . . . . . 0.1392 -0.184 0.139 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.278 . . exonic exonic exonic . . 0.157 @ . . . 0.26 0.16 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.578 . . 0.444 . . . 0.932 0.246 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.830 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.784 . . . . . 0.148 . 0.584 . HET 0 rs76707683 0.087 0.065 . . . . . . . . . . V.81 . . I.77 0.446 . 0.000000 C9JSV9 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.134 0.134000 . . 0.000000 . . 1.0E-255 0.994 0.380 . 0.090 0.777 . 0.737 . 0.285 0.134 0.649 0.087 . . rs76707683 rs147227180 1 1538 10 1/0 0,255,255 +rs76137150 3 75786298 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786298 75786298 Chr3(GRCh37):g.75786298T>C -1133 -1133 NR_036235.1:n.-1133T>C p.? p.? 1 rs76137150 no no 0 T 0.000000 0 transition T C T>C 0.000 0.367 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2476G:p.K826E . . . 0.51578945 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.278 . . 95.0 . . . . . . . . . . -0.6734 -0.891 -0.673 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.165 @ . . . 0.27 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.140 . . 0.189 . . . 0.399 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.461 . . 0.428 . . . . . . 1 0.193 . . . . . 0.131 . 0.459 . HET 0.85 rs76137150 0.076 0.058 . . . . . . . . . . IV.69 . . I.77 0.572 . 0.300000 C9JSV9 . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.176 0.176000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.095 0.955 . 0.130 . 0.291 0.176 0.615 0.076 . . rs76137150 rs140045886 1 1538 10 1/0 0,255,255 +rs76137150 3 75786298 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786298 75786298 Chr3(GRCh37):g.75786298T>C 2476 2476 NM_001128223.2:c.2476A>G p.Lys826Glu p.Lys826Glu 5 2199 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786298 0.0202831 0.004665 76.7125 0.973933 0.018196 80.6234 Zinc finger, C2H2 Zinc finger, C2H2-like rs76137150 no no 0 T 0.000000 0 transition A G A>G 0.000 0.367 K Lys AAG 0.575 E Glu GAG 0.583 826 10 1 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2476G:p.K826E . . . 0.51578945 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.278 . . 95.0 . . . . . . . . . . -0.6734 -0.891 -0.673 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.165 @ . . . 0.27 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.140 . . 0.189 . . . 0.399 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.461 . . 0.428 . . . . . . 1 0.193 . . . . . 0.131 . 0.459 . HET 0.85 rs76137150 0.076 0.058 . . . . . . . . . . IV.69 . . I.77 0.572 . 0.300000 C9JSV9 . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 0.176 0.176000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.095 0.955 . 0.130 . 0.291 0.176 0.615 0.076 . . rs76137150 rs140045886 1 1538 10 1/0 0,255,255 +rs80001478 3 75786302 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786302 75786302 Chr3(GRCh37):g.75786302G>A -1129 -1129 NR_036235.1:n.-1129G>A p.? p.? 1 rs80001478 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2472T:p.S824S . . . 0.37777779 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . -0.1325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs80001478 0.109 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.11 . . rs80001478 rs138494720 1 1538 10 1/0 0,255,255 +rs80001478 3 75786302 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786302 75786302 Chr3(GRCh37):g.75786302G>A 2472 2472 NM_001128223.2:c.2472C>T p.Ser824= p.Ser824Ser 5 2195 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs80001478 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.117 S Ser TCC 0.220 S Ser TCT 0.185 824 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2472T:p.S824S . . . 0.37777779 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . -0.1325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs80001478 0.109 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.11 . . rs80001478 rs138494720 1 1538 10 1/0 0,255,255 +. 3 75786314 CCTACATTCT C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75786315 75786323 Chr3(GRCh37):g.75786315_75786323del -1116 -1108 NR_036235.1:n.-1116_-1108del p.? p.? 1 CTACATTCT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2451_2459del:p.817_820del . . . 0.77380955 . . . 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs146447046 0.141 0.138 . . . . ID\x3dCOSM1425319\x3bOCCURENCE\x3d43(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs146447046 rs146447046 1 1538 10 1.I 0,8,11 +. 3 75786314 CCTACATTCT C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion in-frame exon GRCh37 75786315 75786323 Chr3(GRCh37):g.75786315_75786323del 2451 2459 NM_001128223.2:c.2451_2459del p.Glu818_Arg820del p.Glu818_Arg820del 5 2174 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Donor Strongly Activated 75786328 0.576406 0.013873 69.908 5.55419 0.51178 81.7494 Zinc finger, C2H2 Zinc finger, C2H2-like AGAATGTAG 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2451_2459del:p.817_820del . . . 0.77380955 . . . 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs146447046 0.141 0.138 . . . . ID\x3dCOSM1425319\x3bOCCURENCE\x3d43(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs146447046 rs146447046 1 1538 10 1.I 0,8,11 +rs78596620 3 75786337 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786337 75786337 Chr3(GRCh37):g.75786337G>A -1094 -1094 NR_036235.1:n.-1094G>A p.? p.? 1 rs78596620 no no 0 G 0.000000 0 transition G A G>A 0.567 3.918 140 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2437T:p.P813S . . . 0.31632653 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.243 . . 98.0 . . . . . . . . . . 0.0927 -0.143 0.093 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.239 @ . . . 0.31 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.096 0.004 . . 37 . 0.480 . . 0.201 . . . 0.453 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.872 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 1 0.342 . . . . . 0.393 . 0.533 . HET 0 rs78596620 . . . . . . . . . . . . IX.77 . . I.79 I.79 . 0.050000 C9JSV9 . . . . . 0.262 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 1.367 1.367000 . . 0.050000 . . 1.0E-140 1.000 0.715 . 0.083 0.586 . 0.562 . 0.291 1.367 0.562 . . . rs147075123 rs147075123 1 1538 10 1/0 0,255,255 +rs78596620 3 75786337 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786337 75786337 Chr3(GRCh37):g.75786337G>A 2437 2437 NM_001128223.2:c.2437C>T p.Pro813Ser p.Pro813Ser 5 2160 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs78596620 no no 0 G 0.000000 0 transition C T C>T 0.567 3.918 P Pro CCA 0.274 S Ser TCA 0.148 813 10 6 Opossum -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 166.35 0.00 Tolerated 0.31 III.85 140 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2437T:p.P813S . . . 0.31632653 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.243 . . 98.0 . . . . . . . . . . 0.0927 -0.143 0.093 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.239 @ . . . 0.31 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.096 0.004 . . 37 . 0.480 . . 0.201 . . . 0.453 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.872 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 1 0.342 . . . . . 0.393 . 0.533 . HET 0 rs78596620 . . . . . . . . . . . . IX.77 . . I.79 I.79 . 0.050000 C9JSV9 . . . . . 0.262 . . . . . . . . . . . . . . . . . . . . . . 0.409 . 1.367 1.367000 . . 0.050000 . . 1.0E-140 1.000 0.715 . 0.083 0.586 . 0.562 . 0.291 1.367 0.562 . . . rs147075123 rs147075123 1 1538 10 1/0 0,255,255 +rs77045598 3 75786354 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786354 75786354 Chr3(GRCh37):g.75786354G>A -1077 -1077 NR_036235.1:n.-1077G>A p.? p.? 1 rs77045598 no no 0 G 0.000000 0 transition G A G>A 0.984 -0.198 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2420T:p.T807I . . . 0.43396226 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.138 . . 106.0 . . . . . . . . . . -1.1338 -1.121 -1.134 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.107 @ . . . 0.28 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.032 0.002 . . 37 . 0.090 . . 0.394 . . . 0.091 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.135 . . 0.198 . . . . . . 1 0.010 . . . . . 0.144 . 0.387 . HET 0.82 rs77045598 0.141 0.123 . . . . . . . . . . 5.1762 . . I.37 -0.695 . 1.000000 C9JSV9 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.195 -0.195000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.486 . 0.079 . 0.034 -0.195 -0.219 0.14 . . rs77045598 rs139554848 1 1538 10 1/0 0,251,255 +rs77045598 3 75786354 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786354 75786354 Chr3(GRCh37):g.75786354G>A 2420 2420 NM_001128223.2:c.2420C>T p.Thr807Ile p.Thr807Ile 5 2143 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77045598 no no 0 G 0.000000 0 transition C T C>T 0.984 -0.198 T Thr ACT 0.243 I Ile ATT 0.356 807 10 5 Cat -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 148.91 0.00 Tolerated 0.37 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2420T:p.T807I . . . 0.43396226 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.138 . . 106.0 . . . . . . . . . . -1.1338 -1.121 -1.134 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.107 @ . . . 0.28 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.032 0.002 . . 37 . 0.090 . . 0.394 . . . 0.091 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.135 . . 0.198 . . . . . . 1 0.010 . . . . . 0.144 . 0.387 . HET 0.82 rs77045598 0.141 0.123 . . . . . . . . . . 5.1762 . . I.37 -0.695 . 1.000000 C9JSV9 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.195 -0.195000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.486 . 0.079 . 0.034 -0.195 -0.219 0.14 . . rs77045598 rs139554848 1 1538 10 1/0 0,251,255 +rs370627469 3 75786430 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786430 75786430 Chr3(GRCh37):g.75786430C>T -1001 -1001 NR_036235.1:n.-1001C>T p.? p.? 1 rs370627469 no no 0 C 0.000000 0 transition C T C>T 0.945 0.932 184 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2344A:p.G782R . . . 0.12230216 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.570 . @ . . . . . 1 0.523 . . 139.0 . . . . . . . . . . -0.4493 -0.765 -0.449 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.123 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.145 0.006 . . 37 . 0.418 . . 0.202 . . . 0.251 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.832 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 1 0.477 . . . . . 0.183 . 0.549 . LowAF 0.01 rs370627469 0.011 0.022 . . . . . . . . . . V.47 . . I.74 -0.254 . 0.020000 C9JSV9 . . . . . 0.050 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.052 -0.052000 . . 0.020000 . . 9.999999999999999E-185 0.024 0.198 . 0.016 0.335 . 0.494 . 0.065 -0.052 0.542 0.011 . . rs370627469 rs370627469 1 1538 10 1/0 0,214,255 +rs370627469 3 75786430 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786430 75786430 Chr3(GRCh37):g.75786430C>T 2344 2344 NM_001128223.2:c.2344G>A p.Gly782Arg p.Gly782Arg 5 2067 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs370627469 no no 0 C 0.000000 0 transition G A G>A 0.945 0.932 G Gly GGA 0.246 R Arg AGA 0.205 782 10 7 Opossum -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 147.42 0.00 Tolerated 0.07 III.85 184 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2344A:p.G782R . . . 0.12230216 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.570 . @ . . . . . 1 0.523 . . 139.0 . . . . . . . . . . -0.4493 -0.765 -0.449 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.123 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.145 0.006 . . 37 . 0.418 . . 0.202 . . . 0.251 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.832 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 1 0.477 . . . . . 0.183 . 0.549 . LowAF 0.01 rs370627469 0.011 0.022 . . . . . . . . . . V.47 . . I.74 -0.254 . 0.020000 C9JSV9 . . . . . 0.050 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.052 -0.052000 . . 0.020000 . . 9.999999999999999E-185 0.024 0.198 . 0.016 0.335 . 0.494 . 0.065 -0.052 0.542 0.011 . . rs370627469 rs370627469 1 1538 10 1/0 0,214,255 +rs79994093 3 75786438 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786438 75786438 Chr3(GRCh37):g.75786438G>A -993 -993 NR_036235.1:n.-993G>A p.? p.? 1 rs79994093 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102760 6564 17060 4748 6852 12578 42520 9750 2688 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 78 Exomes transition G A G>A 0.890 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2336T:p.T779I . . . 0.7099237 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.143 . @ . . . . . 1 0.044 . . 131.0 . . . . . . . . . . -1.1784 -1.278 -1.178 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.150 @ . . . 0.3 0.14 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.107 . . 0.343 . . . 0.080 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.290 . . 0.250 . . . . . . 1 0.010 . . . . . 0.154 . 0.344 . HET 0.66 rs148249548 . . . . . . . . . . . . V.05 . . I.74 0.309 . 1.000000 C9JSV9 . . . . . 0.021 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.409 . 0.092 0.092000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.069 . 0.028 . 0.093 0.092 -0.219 . . . rs79994093 rs148249548 1 1538 10 1/0 0,252,250 +rs79994093 3 75786438 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786438 75786438 Chr3(GRCh37):g.75786438G>A 2336 2336 NM_001128223.2:c.2336C>T p.Thr779Ile p.Thr779Ile 5 2059 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs79994093 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102760 6564 17060 4748 6852 12578 42520 9750 2688 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 78 Exomes transition C T C>T 0.890 -0.117 T Thr ACT 0.243 I Ile ATT 0.356 779 10 5 Cat -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 141.80 0.00 Tolerated 0.26 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2336T:p.T779I . . . 0.7099237 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.143 . @ . . . . . 1 0.044 . . 131.0 . . . . . . . . . . -1.1784 -1.278 -1.178 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.150 @ . . . 0.3 0.14 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.107 . . 0.343 . . . 0.080 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.290 . . 0.250 . . . . . . 1 0.010 . . . . . 0.154 . 0.344 . HET 0.66 rs148249548 . . . . . . . . . . . . V.05 . . I.74 0.309 . 1.000000 C9JSV9 . . . . . 0.021 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.409 . 0.092 0.092000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.069 . 0.028 . 0.093 0.092 -0.219 . . . rs79994093 rs148249548 1 1538 10 1/0 0,252,250 +rs77097895 3 75786450 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786450 75786450 Chr3(GRCh37):g.75786450G>A -981 -981 NR_036235.1:n.-981G>A p.? p.? 1 rs77097895 yes no Frequency 1 G 0.000000 0 0.000022 0.000313 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000313 2 2 0 0 0 0 0 0 0 90710 6398 15212 3640 6998 9972 37946 8156 2388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 95 Exomes transition G A G>A 0.000 -2.377 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2324T:p.T775M . . . 0.7414966 . . @ 109 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.073 . . 147.0 . . . . . . . . . . -2.0134 -2.144 -2.013 c . . . . . 7.458e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.044 @ . . . 0.33 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.096 . . 0.226 . . . 0.128 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.112 . . 0.104 . . . . . . 1 0.265 . . . . . 0.158 . 0.419 . HET 0.1 rs77097895 0.489 0.478 . . . . . . . . . . V.48 . . I.74 -3.48 . 0.140000 C9JSV9 . . . . . 0.005 . . . 0.0003 2.205e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.409 . -2.537 -2.537000 . . 0.140000 . . 1.0E-255 0.000 0.063 . 0.016 0.006 . 0.000 . 0.005 -2.537 -0.617 0.49 . . rs77097895 rs142392552 1 1538 10 1/0 0,245,241 +rs77097895 3 75786450 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786450 75786450 Chr3(GRCh37):g.75786450G>A 2324 2324 NM_001128223.2:c.2324C>T p.Thr775Met p.Thr775Met 5 2047 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77097895 yes no Frequency 1 G 0.000000 0 0.000022 0.000313 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000313 2 2 0 0 0 0 0 0 0 90710 6398 15212 3640 6998 9972 37946 8156 2388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 95 Exomes transition C T C>T 0.000 -2.377 T Thr ACG 0.116 M Met ATG 1.000 775 10 2 Western lowland gorilla -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 233.00 0.00 Tolerated 0.14 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2324T:p.T775M . . . 0.7414966 . . @ 109 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.073 . . 147.0 . . . . . . . . . . -2.0134 -2.144 -2.013 c . . . . . 7.458e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.044 @ . . . 0.33 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.096 . . 0.226 . . . 0.128 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.112 . . 0.104 . . . . . . 1 0.265 . . . . . 0.158 . 0.419 . HET 0.1 rs77097895 0.489 0.478 . . . . . . . . . . V.48 . . I.74 -3.48 . 0.140000 C9JSV9 . . . . . 0.005 . . . 0.0003 2.205e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.409 . -2.537 -2.537000 . . 0.140000 . . 1.0E-255 0.000 0.063 . 0.016 0.006 . 0.000 . 0.005 -2.537 -0.617 0.49 . . rs77097895 rs142392552 1 1538 10 1/0 0,245,241 +rs113197025 3 75786469 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786469 75786469 Chr3(GRCh37):g.75786469G>A -962 -962 NR_036235.1:n.-962G>A p.? p.? 1 rs113197025 no no 0 G 0.000000 0 transition G A G>A 0.000 0.044 231 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2305T:p.H769Y . . . 0.24666667 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.104 . . 150.0 . . . . . . . . . . -1.2875 -1.408 -1.287 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.149 . . exonic exonic exonic . . 0.118 @ . . . 0.31 0.15 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.048 . . 0.251 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.084 . . 0 0 0 0 0 0 . 0.366 . . 0.184 . . . . . . 1 0.010 . . . . . 0.008 . 0.384 . HET 0.43 rs113197025 0.022 0.022 . . . . . . . . . . 0.6427 . . I.74 -0.386 . 1.000000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.081 -0.081000 . . 1.000000 . . 1.0E-231 0.000 0.063 . 0.016 0.122 . 0.001 . 0.092 -0.081 0.562 0.022 . . rs113197025 rs113197025 1 1538 10 1/0 0,222,255 +rs113197025 3 75786469 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786469 75786469 Chr3(GRCh37):g.75786469G>A 2305 2305 NM_001128223.2:c.2305C>T p.His769Tyr p.His769Tyr 5 2028 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs113197025 no no 0 G 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 769 10 1 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 265.22 XII.16 Tolerated 0.49 III.93 231 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2305T:p.H769Y . . . 0.24666667 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.104 . . 150.0 . . . . . . . . . . -1.2875 -1.408 -1.287 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.149 . . exonic exonic exonic . . 0.118 @ . . . 0.31 0.15 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.048 . . 0.251 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.084 . . 0 0 0 0 0 0 . 0.366 . . 0.184 . . . . . . 1 0.010 . . . . . 0.008 . 0.384 . HET 0.43 rs113197025 0.022 0.022 . . . . . . . . . . 0.6427 . . I.74 -0.386 . 1.000000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.081 -0.081000 . . 1.000000 . . 1.0E-231 0.000 0.063 . 0.016 0.122 . 0.001 . 0.092 -0.081 0.562 0.022 . . rs113197025 rs113197025 1 1538 10 1/0 0,222,255 +rs111381670 3 75786476 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786476 75786476 Chr3(GRCh37):g.75786476G>A -955 -955 NR_036235.1:n.-955G>A p.? p.? 1 rs111381670 no no 0 G 0.000000 0 transition G A G>A 0.008 -1.005 226 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2298T:p.T766T . . . 0.23129252 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . . . . . . . -0.2526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs111381670 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.022 . . rs111381670 rs111381670 1 1538 10 1/0 0,222,255 +rs111381670 3 75786476 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786476 75786476 Chr3(GRCh37):g.75786476G>A 2298 2298 NM_001128223.2:c.2298C>T p.Thr766= p.Thr766Thr 5 2021 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs111381670 no no 0 G 0.000000 0 transition C T C>T 0.008 -1.005 T Thr ACC 0.361 T Thr ACT 0.243 766 226 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2298T:p.T766T . . . 0.23129252 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . . . . . . . -0.2526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs111381670 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.022 . . rs111381670 rs111381670 1 1538 10 1/0 0,222,255 +rs112630759 3 75786483 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786483 75786483 Chr3(GRCh37):g.75786483C>A -948 -948 NR_036235.1:n.-948C>A p.? p.? 1 rs112630759 no no 0 C 0.000000 0 transversion C A C>A 0.992 1.497 188 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2291T:p.G764V . . . 0.13043478 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.595 . @ . . . . . 1 0.383 . . 138.0 . . . . . . . . . . -0.0510 -0.341 -0.051 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.221 . . exonic exonic exonic . . 0.179 @ . . . 0.3 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.052 0.003 . . 37 . 0.399 . . 0.340 . . . 0.844 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.928 . . 0 0 0 0 0 0 . 0.670 . . 0.631 . . . . . . 1 0.682 . . . . . 0.209 . 0.416 . LowAF 0.02 rs112630759 . . . . . . . . . . . . VI.01 . . I.74 0.819 . 0.000000 C9JSV9 . . . . . 0.209 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 0.320 0.320000 . . 0.000000 . . 1.0E-188 0.694 0.283 . 0.043 0.791 . 0.311 . 0.082 0.320 0.542 . rs2209203 rs2209203 rs112630759 rs112630759 1 1538 10 1/0 0,215,255 +rs112630759 3 75786483 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786483 75786483 Chr3(GRCh37):g.75786483C>A 2291 2291 NM_001128223.2:c.2291G>T p.Gly764Val p.Gly764Val 5 2014 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786463 0.000193 74.3877 0.45971 0.000229 74.3877 Zinc finger, C2H2 Zinc finger, C2H2-like rs112630759 no no 0 C 0.000000 0 transversion G T G>T 0.992 1.497 G Gly GGG 0.250 V Val GTG 0.468 764 10 7 Opossum -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 229.12 50.17 Deleterious 0.01 III.93 188 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2291T:p.G764V . . . 0.13043478 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.595 . @ . . . . . 1 0.383 . . 138.0 . . . . . . . . . . -0.0510 -0.341 -0.051 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.221 . . exonic exonic exonic . . 0.179 @ . . . 0.3 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.052 0.003 . . 37 . 0.399 . . 0.340 . . . 0.844 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.928 . . 0 0 0 0 0 0 . 0.670 . . 0.631 . . . . . . 1 0.682 . . . . . 0.209 . 0.416 . LowAF 0.02 rs112630759 . . . . . . . . . . . . VI.01 . . I.74 0.819 . 0.000000 C9JSV9 . . . . . 0.209 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 0.320 0.320000 . . 0.000000 . . 1.0E-188 0.694 0.283 . 0.043 0.791 . 0.311 . 0.082 0.320 0.542 . rs2209203 rs2209203 rs112630759 rs112630759 1 1538 10 1/0 0,215,255 +rs113382015 3 75786490 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786490 75786490 Chr3(GRCh37):g.75786490C>G -941 -941 NR_036235.1:n.-941C>G p.? p.? 1 rs113382015 no no 0 C 0.000000 0 transversion C G C>G 0.063 1.174 237 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2284C:p.E762Q . . . 0.26206896 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.035 . . 145.0 . . . . . . . . . . -0.5700 -0.744 -0.570 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.235 @ . . . 0.3 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.123 . . 0.257 . . . 0.050 0.200 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.561 . . 0.508 . . . . . . 1 0.179 . . . . . 0.387 . 0.539 . HET 0.02 rs113382015 0.065 0.072 . . . . . . . . . . IX.62 . . I.74 I.74 . 0.280000 C9JSV9 . . . . . 0.044 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 1.331 1.331000 . . 0.280000 . . 1.0E-237 0.000 0.063 . 0.062 0.965 . 0.255 . 0.276 1.331 0.542 0.065 . . rs113382015 rs113382015 1 1538 10 1/0 0,226,255 +rs113382015 3 75786490 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786490 75786490 Chr3(GRCh37):g.75786490C>G 2284 2284 NM_001128223.2:c.2284G>C p.Glu762Gln p.Glu762Gln 5 2007 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786487 51.3415 1.82418 1.2e-05 62.1635 Zinc finger, C2H2 Zinc finger, C2H2-like rs113382015 no no 0 C 0.000000 0 transversion G C G>C 0.063 1.174 E Glu GAG 0.583 Q Gln CAG 0.744 762 10 6 Cat 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 263.50 0.00 Tolerated 0.27 III.93 237 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2284C:p.E762Q . . . 0.26206896 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.035 . . 145.0 . . . . . . . . . . -0.5700 -0.744 -0.570 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.235 @ . . . 0.3 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.123 . . 0.257 . . . 0.050 0.200 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.561 . . 0.508 . . . . . . 1 0.179 . . . . . 0.387 . 0.539 . HET 0.02 rs113382015 0.065 0.072 . . . . . . . . . . IX.62 . . I.74 I.74 . 0.280000 C9JSV9 . . . . . 0.044 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 1.331 1.331000 . . 0.280000 . . 1.0E-237 0.000 0.063 . 0.062 0.965 . 0.255 . 0.276 1.331 0.542 0.065 . . rs113382015 rs113382015 1 1538 10 1/0 0,226,255 +rs372539402 3 75786501 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786501 75786501 Chr3(GRCh37):g.75786501T>A -930 -930 NR_036235.1:n.-930T>A p.? p.? 1 rs372539402 yes no Frequency/1000G 2 T 0.000000 0 transversion T A T>A 0.000 0.205 243 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2273T:p.Y758F . . . 0.28169015 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.320 . @ . . . . . 1 0.098 . . 142.0 . . . . . . . . . . -1.0417 -1.101 -1.042 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.235 0.0002 . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.419 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.097 . . 0.320 . . . 0.088 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.561 . . 0 0 0 0 0 0 . 0.102 . . 0.112 . . . . . . 1 0.276 . . . . . 0.091 . 0.480 . HET 0.4 rs372539402 . . . . . . . . . . . . 4.0172 . . I.74 I.74 . 0.320000 C9JSV9 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 1.092 1.092000 . . 0.320000 . . 1.0E-243 0.000 0.063 . 0.043 0.995 . 0.013 . 0.094 1.092 0.615 . . . rs372539402 rs372539402 1 1538 10 1/0 0,228,255 +rs372539402 3 75786501 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786501 75786501 Chr3(GRCh37):g.75786501T>A 2273 2273 NM_001128223.2:c.2273A>T p.Tyr758Phe p.Tyr758Phe 5 1996 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs372539402 yes no Frequency/1000G 2 T 0.000000 0 transversion A T A>T 0.000 0.205 Y Tyr TAT 0.438 F Phe TTT 0.454 758 10 9 Opossum 3 3 4 0.2 0 6.II 5.II 136 132 22 C0 83.33 21.23 Deleterious 0.02 III.85 243 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2273T:p.Y758F . . . 0.28169015 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.320 . @ . . . . . 1 0.098 . . 142.0 . . . . . . . . . . -1.0417 -1.101 -1.042 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.235 0.0002 . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.419 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.097 . . 0.320 . . . 0.088 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.561 . . 0 0 0 0 0 0 . 0.102 . . 0.112 . . . . . . 1 0.276 . . . . . 0.091 . 0.480 . HET 0.4 rs372539402 . . . . . . . . . . . . 4.0172 . . I.74 I.74 . 0.320000 C9JSV9 . . . . . 0.021 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 1.092 1.092000 . . 0.320000 . . 1.0E-243 0.000 0.063 . 0.043 0.995 . 0.013 . 0.094 1.092 0.615 . . . rs372539402 rs372539402 1 1538 10 1/0 0,228,255 +rs79902440 3 75786506 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786506 75786506 Chr3(GRCh37):g.75786506T>C -925 -925 NR_036235.1:n.-925T>C p.? p.? 1 rs79902440 yes no Frequency/1000G 2 T 0.000000 0 transition T C T>C 0.992 1.013 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2268G:p.K756K . . . 0.53571427 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.0128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.27 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79902440 0.304 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 . . rs79902440 rs150752942 1 1538 10 1/0 0,248,255 +rs79902440 3 75786506 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786506 75786506 Chr3(GRCh37):g.75786506T>C 2268 2268 NM_001128223.2:c.2268A>G p.Lys756= p.Lys756Lys 5 1991 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79902440 yes no Frequency/1000G 2 T 0.000000 0 transition A G A>G 0.992 1.013 K Lys AAA 0.425 K Lys AAG 0.575 756 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2268G:p.K756K . . . 0.53571427 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.0128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.27 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79902440 0.304 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 . . rs79902440 rs150752942 1 1538 10 1/0 0,248,255 +rs113078821 3 75786518 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786518 75786518 Chr3(GRCh37):g.75786518A>C -913 -913 NR_036235.1:n.-913A>C p.? p.? 1 rs113078821 no no 0 A 0.000000 0 transversion A C A>C 1.000 2.304 245 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2256G:p.H752Q . . . 0.2890625 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.179 . . 128.0 . . . . . . . . . . -0.2395 -0.512 -0.239 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.668 . . exonic exonic exonic . . 0.169 @ . . . 0.29 0.15 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.083 0.004 . . 37 . 0.769 . . 0.634 . . . 0.873 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.875 . . 0 0 0 0 0 0 . 0.689 . . 0.774 . . . . . . 1 0.912 . . . . . 0.179 . 0.566 . HET 0 rs113078821 0.087 0.094 . . . . . . . . . . V.48 . . I.61 0.647 . 0.000000 C9JSV9 . . . . . 0.191 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 0.229 0.229000 . . 0.000000 . . 1.0E-245 1.000 0.715 . 0.043 0.851 . 0.250 . 0.079 0.229 0.649 0.087 . . rs113078821 rs113078821 1 1538 10 1/0 0,233,255 +rs113078821 3 75786518 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786518 75786518 Chr3(GRCh37):g.75786518A>C 2256 2256 NM_001128223.2:c.2256T>G p.His752Gln p.His752Gln 5 1979 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs113078821 no no 0 A 0.000000 0 transversion T G T>G 1.000 2.304 H His CAT 0.413 Q Gln CAG 0.744 752 10 9 Opossum 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 94.34 24.VIII Deleterious 0.03 III.85 245 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2256G:p.H752Q . . . 0.2890625 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.179 . . 128.0 . . . . . . . . . . -0.2395 -0.512 -0.239 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.668 . . exonic exonic exonic . . 0.169 @ . . . 0.29 0.15 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.083 0.004 . . 37 . 0.769 . . 0.634 . . . 0.873 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.875 . . 0 0 0 0 0 0 . 0.689 . . 0.774 . . . . . . 1 0.912 . . . . . 0.179 . 0.566 . HET 0 rs113078821 0.087 0.094 . . . . . . . . . . V.48 . . I.61 0.647 . 0.000000 C9JSV9 . . . . . 0.191 . . . . . . . . . . . . . . . . . . . . . . 0.330 . 0.229 0.229000 . . 0.000000 . . 1.0E-245 1.000 0.715 . 0.043 0.851 . 0.250 . 0.079 0.229 0.649 0.087 . . rs113078821 rs113078821 1 1538 10 1/0 0,233,255 +rs76396775 3 75786521 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786521 75786521 Chr3(GRCh37):g.75786521G>A -910 -910 NR_036235.1:n.-910G>A p.? p.? 1 rs76396775 no no 0 G 0.000000 0 transition G A G>A 0.677 -2.458 249 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2253T:p.T751T . . . 0.30327868 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.5765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76396775 0.087 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.087 . . rs76396775 rs138747541 1 1538 10 1/0 0,236,255 +rs76396775 3 75786521 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786521 75786521 Chr3(GRCh37):g.75786521G>A 2253 2253 NM_001128223.2:c.2253C>T p.Thr751= p.Thr751Thr 5 1976 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76396775 no no 0 G 0.000000 0 transition C T C>T 0.677 -2.458 T Thr ACC 0.361 T Thr ACT 0.243 751 249 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2253T:p.T751T . . . 0.30327868 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.5765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76396775 0.087 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.087 . . rs76396775 rs138747541 1 1538 10 1/0 0,236,255 +rs79051543 3 75786533 T G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786533 75786533 Chr3(GRCh37):g.75786533T>G -898 -898 NR_036235.1:n.-898T>G p.? p.? 1 rs79051543 no no 0 T 0.000000 0 transversion T G T>G 0.000 -2.054 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2241C:p.V747V . . . 0.48360655 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.3800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79051543 0.315 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 . . rs79051543 rs147974422 1 1538 10 1/0 0,253,255 +rs79051543 3 75786533 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786533 75786533 Chr3(GRCh37):g.75786533T>G 2241 2241 NM_001128223.2:c.2241A>C p.Val747= p.Val747Val 5 1964 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786524 4.35536 0.588181 69.2256 6.69112 0.812992 72.0435 rs79051543 no no 0 T 0.000000 0 transversion A C A>C 0.000 -2.054 V Val GTA 0.114 V Val GTC 0.240 747 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2241C:p.V747V . . . 0.48360655 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.3800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79051543 0.315 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 . . rs79051543 rs147974422 1 1538 10 1/0 0,253,255 +rs80089603 3 75786670 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786670 75786670 Chr3(GRCh37):g.75786670G>A -761 -761 NR_036235.1:n.-761G>A p.? p.? 1 rs80089603 no no 0 G 0.000000 0 transition G A G>A 0.898 2.223 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2104T:p.P702S . . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.242 . @ . . . . . 1 0.365 . . 88.0 . . . . . . . . . . -0.6567 -0.759 -0.657 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.149 @ . . . 0.32 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.038 0.002 . . 37 . 0.043 . . 0.389 . . . 0.447 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.371 . . 0.305 . . . . . . 1 0.531 . . . . . 0.207 . 0.461 . HET 0.12 rs112822201 0.348 0.326 . . . . . . . . . . VI.59 . . I.27 0.281 . 0.060000 C9JSV9 . . . . . 0.285 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.088 0.088000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.062 0.113 . 0.648 . 0.283 0.088 0.562 0.35 . . rs80089603 rs112822201 1 1538 10 1/0 0,254,255 +rs80089603 3 75786670 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786670 75786670 Chr3(GRCh37):g.75786670G>A 2104 2104 NM_001128223.2:c.2104C>T p.Pro702Ser p.Pro702Ser 5 1827 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs80089603 no no 0 G 0.000000 0 transition C T C>T 0.898 2.223 P Pro CCT 0.283 S Ser TCT 0.185 702 10 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2104T:p.P702S . . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.242 . @ . . . . . 1 0.365 . . 88.0 . . . . . . . . . . -0.6567 -0.759 -0.657 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.149 @ . . . 0.32 0.17 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.038 0.002 . . 37 . 0.043 . . 0.389 . . . 0.447 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.371 . . 0.305 . . . . . . 1 0.531 . . . . . 0.207 . 0.461 . HET 0.12 rs112822201 0.348 0.326 . . . . . . . . . . VI.59 . . I.27 0.281 . 0.060000 C9JSV9 . . . . . 0.285 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.088 0.088000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.062 0.113 . 0.648 . 0.283 0.088 0.562 0.35 . . rs80089603 rs112822201 1 1538 10 1/0 0,254,255 +rs80214016 3 75786687 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786687 75786687 Chr3(GRCh37):g.75786687A>T -744 -744 NR_036235.1:n.-744A>T p.? p.? 1 rs80214016 no no 0 A 0.000000 0 transversion A T A>T 0.031 -0.924 176 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2087A:p.L696H . . . 0.10638298 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.068 . . 94.0 . . . . . . . . . . -1.4542 -1.540 -1.454 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.076 . . exonic exonic exonic . . 0.079 @ . . . 0.27 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.037 0.002 . . 37 . 0.042 . . 0.400 . . . 0.044 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 1 0.654 . . . . . 0.037 . 0.455 . LowAF 0 rs80214016 . 0.007 . . . . . . . . . . II.85 . . I.63 -1.62 . 0.010000 C9JSV9 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -0.465 -0.465000 . . 0.010000 . . 1.0E-176 0.000 0.063 . 0.114 0.262 . 0.046 . 0.290 -0.465 0.649 . rs6668837 rs6668837 rs80214016 rs80214016 1 1538 10 1/0 0,229,255 +rs80214016 3 75786687 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786687 75786687 Chr3(GRCh37):g.75786687A>T 2087 2087 NM_001128223.2:c.2087T>A p.Leu696His p.Leu696His 5 1810 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs80214016 no no 0 A 0.000000 0 transversion T A T>A 0.031 -0.924 L Leu CTC 0.197 H His CAC 0.587 696 10 1 -2 -3 -5 0 0.58 4.IX 10.IV 111 96 99 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2087A:p.L696H . . . 0.10638298 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.068 . . 94.0 . . . . . . . . . . -1.4542 -1.540 -1.454 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.076 . . exonic exonic exonic . . 0.079 @ . . . 0.27 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.037 0.002 . . 37 . 0.042 . . 0.400 . . . 0.044 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 1 0.654 . . . . . 0.037 . 0.455 . LowAF 0 rs80214016 . 0.007 . . . . . . . . . . II.85 . . I.63 -1.62 . 0.010000 C9JSV9 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -0.465 -0.465000 . . 0.010000 . . 1.0E-176 0.000 0.063 . 0.114 0.262 . 0.046 . 0.290 -0.465 0.649 . rs6668837 rs6668837 rs80214016 rs80214016 1 1538 10 1/0 0,229,255 +rs74699492 3 75786740 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786740 75786740 Chr3(GRCh37):g.75786740C>G -691 -691 NR_036235.1:n.-691C>G p.? p.? 1 rs74699492 no no 0 C 0.000000 0 transversion C G C>G 0.000 1.255 245 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2034C:p.M678I . . . 0.29069766 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.254 . @ . . . . . 1 0.073 . . 86.0 . . . . . . . . . . -1.0570 -1.103 -1.057 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.224 @ . . . 0.31 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.038 . . 0.397 . . . 0.081 0.196 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.234 . . 0 0 0 0 0 0 . 0.090 . . 0.080 . . . . . . 1 0.200 . . . . . 0.365 . 0.392 . HET 0.18 rs74699492 . . . . . . . . . . . . IX.78 . . I.57 I.57 . 0.170000 C9JSV9 . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 1.226 1.226000 . . 0.170000 . . 1.0E-245 0.000 0.063 . 0.140 0.996 . 0.054 . 0.280 1.226 0.542 . . . rs74699492 rs74699492 1 1538 10 1/0 0,249,255 +rs74699492 3 75786740 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786740 75786740 Chr3(GRCh37):g.75786740C>G 2034 2034 NM_001128223.2:c.2034G>C p.Met678Ile p.Met678Ile 5 1757 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs74699492 no no 0 C 0.000000 0 transversion G C G>C 0.000 1.255 M Met ATG 1.000 I Ile ATC 0.481 678 10 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Not scored 0.0 0.0 245 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G2034C:p.M678I . . . 0.29069766 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.254 . @ . . . . . 1 0.073 . . 86.0 . . . . . . . . . . -1.0570 -1.103 -1.057 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.224 @ . . . 0.31 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.038 . . 0.397 . . . 0.081 0.196 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.234 . . 0 0 0 0 0 0 . 0.090 . . 0.080 . . . . . . 1 0.200 . . . . . 0.365 . 0.392 . HET 0.18 rs74699492 . . . . . . . . . . . . IX.78 . . I.57 I.57 . 0.170000 C9JSV9 . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 1.226 1.226000 . . 0.170000 . . 1.0E-245 0.000 0.063 . 0.140 0.996 . 0.054 . 0.280 1.226 0.542 . . . rs74699492 rs74699492 1 1538 10 1/0 0,249,255 +rs79103664 3 75786741 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786741 75786741 Chr3(GRCh37):g.75786741A>G -690 -690 NR_036235.1:n.-690A>G p.? p.? 1 rs79103664 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.198 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2033C:p.M678T . . . 0.6818182 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.030 . . 88.0 . . . . . . . . . . -1.5270 -1.619 -1.527 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.076 . . exonic exonic exonic . . 0.063 @ . . . 0.27 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.035 . . 0.464 . . . 0.098 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.147 . . 0.121 . . . . . . 1 0.060 . . . . . 0.140 . 0.518 . HET 0.57 rs79103664 0.207 0.203 . . . . . . . . . . 5.1114 . . I.57 -2.35 . 0.500000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -0.437 -0.437000 . . 0.500000 . . 1.0E-255 0.000 0.063 . 0.104 0.997 . 0.002 . 0.006 -0.437 0.649 0.21 . . rs79103664 rs79103664 1 1538 10 1/0 0,255,255 +rs79103664 3 75786741 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786741 75786741 Chr3(GRCh37):g.75786741A>G 2033 2033 NM_001128223.2:c.2033T>C p.Met678Thr p.Met678Thr 5 1756 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Donor Strongly Activated 75786746 0.002507 66.9188 4.99355 0.004261 66.6156 rs79103664 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.198 M Met ATG 1.000 T Thr ACG 0.116 678 10 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T2033C:p.M678T . . . 0.6818182 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.030 . . 88.0 . . . . . . . . . . -1.5270 -1.619 -1.527 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.076 . . exonic exonic exonic . . 0.063 @ . . . 0.27 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.035 . . 0.464 . . . 0.098 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.147 . . 0.121 . . . . . . 1 0.060 . . . . . 0.140 . 0.518 . HET 0.57 rs79103664 0.207 0.203 . . . . . . . . . . 5.1114 . . I.57 -2.35 . 0.500000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -0.437 -0.437000 . . 0.500000 . . 1.0E-255 0.000 0.063 . 0.104 0.997 . 0.002 . 0.006 -0.437 0.649 0.21 . . rs79103664 rs79103664 1 1538 10 1/0 0,255,255 +rs77394685 3 75786754 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786754 75786754 Chr3(GRCh37):g.75786754G>T -677 -677 NR_036235.1:n.-677G>T p.? p.? 1 rs77394685 yes no Frequency 1 G 0.000000 0 transversion G T G>T 0.937 2.385 243 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2020A:p.R674S . . . 0.2857143 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.369 . @ . . . . . 1 0.149 . . 91.0 . . . . . . . . . . -0.9467 -0.954 -0.947 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.101 . . exonic exonic exonic . . 0.169 @ . . . 0.41 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.073 0.003 . . 37 . 0.058 . . 0.361 . . . 0.033 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.119 . . 0.063 . . . . . . 1 0.381 . . . . . 0.193 . 0.472 . HET 0.32 rs77394685 0.076 0.058 . . . . . . . . . . 6.1361 . . I.57 0.65 . 0.070000 C9JSV9 . . . . . 0.244 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 0.252 0.252000 . . 0.070000 . . 1.0E-243 1.000 0.715 . 0.016 0.974 . 0.654 . 0.283 0.252 0.562 0.076 . . rs77394685 rs77394685 1 1538 10 1/0 0,246,255 +rs77394685 3 75786754 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786754 75786754 Chr3(GRCh37):g.75786754G>T 2020 2020 NM_001128223.2:c.2020C>A p.Arg674Ser p.Arg674Ser 5 1743 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs77394685 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.937 2.385 R Arg CGT 0.082 S Ser AGT 0.149 674 10 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Not scored 0.0 0.0 243 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C2020A:p.R674S . . . 0.2857143 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.369 . @ . . . . . 1 0.149 . . 91.0 . . . . . . . . . . -0.9467 -0.954 -0.947 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.101 . . exonic exonic exonic . . 0.169 @ . . . 0.41 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.073 0.003 . . 37 . 0.058 . . 0.361 . . . 0.033 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.119 . . 0.063 . . . . . . 1 0.381 . . . . . 0.193 . 0.472 . HET 0.32 rs77394685 0.076 0.058 . . . . . . . . . . 6.1361 . . I.57 0.65 . 0.070000 C9JSV9 . . . . . 0.244 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 0.252 0.252000 . . 0.070000 . . 1.0E-243 1.000 0.715 . 0.016 0.974 . 0.654 . 0.283 0.252 0.562 0.076 . . rs77394685 rs77394685 1 1538 10 1/0 0,246,255 +rs75759940 3 75786759 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786759 75786759 Chr3(GRCh37):g.75786759T>C -672 -672 NR_036235.1:n.-672T>C p.? p.? 1 rs75759940 no no 0 T 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 121956 5586 20646 6782 7114 15962 49810 12890 3166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 154 Exomes transition T C T>C 0.882 -0.682 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2015G:p.K672R . . . 0.7083333 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.115 . @ . . . . . 1 0.158 . . 96.0 . . . . . . . . . . -1.6455 -1.679 -1.646 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.077 . . exonic exonic exonic . . 0.049 @ . . . 0.24 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.095 0.004 . . 37 . 0.029 . . 0.410 . . . 0.010 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.102 . . 0.080 . . . . . . 1 0.465 . . . . . 0.123 . 0.388 . HET 0.04 rs75759940 0.196 0.181 . . . . . . . . . . IV.98 . . I.57 -3.14 . 0.000000 C9JSV9 . . . . . 0.028 . . . 0 8.2e-06 0 0 0 0 2.008e-05 0 0 . . . . . . . . . . 0.093 . -1.861 -1.861000 . . 0.000000 . . 1.0E-255 0.792 0.294 . 0.043 0.943 . 0.088 . 0.021 -1.861 -0.267 0.2 . . rs75759940 rs75759940 1 1538 10 1/0 0,255,255 +rs75759940 3 75786759 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786759 75786759 Chr3(GRCh37):g.75786759T>C 2015 2015 NM_001128223.2:c.2015A>G p.Lys672Arg p.Lys672Arg 5 1738 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs75759940 no no 0 T 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 121956 5586 20646 6782 7114 15962 49810 12890 3166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 154 Exomes transition A G A>G 0.882 -0.682 K Lys AAA 0.425 R Arg AGA 0.205 672 10 1 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2015G:p.K672R . . . 0.7083333 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.115 . @ . . . . . 1 0.158 . . 96.0 . . . . . . . . . . -1.6455 -1.679 -1.646 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.077 . . exonic exonic exonic . . 0.049 @ . . . 0.24 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.095 0.004 . . 37 . 0.029 . . 0.410 . . . 0.010 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.102 . . 0.080 . . . . . . 1 0.465 . . . . . 0.123 . 0.388 . HET 0.04 rs75759940 0.196 0.181 . . . . . . . . . . IV.98 . . I.57 -3.14 . 0.000000 C9JSV9 . . . . . 0.028 . . . 0 8.2e-06 0 0 0 0 2.008e-05 0 0 . . . . . . . . . . 0.093 . -1.861 -1.861000 . . 0.000000 . . 1.0E-255 0.792 0.294 . 0.043 0.943 . 0.088 . 0.021 -1.861 -0.267 0.2 . . rs75759940 rs75759940 1 1538 10 1/0 0,255,255 +. 3 75786764 C CT - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 insertion upstream GRCh37 75786764 75786765 Chr3(GRCh37):g.75786764_75786765insT -667 -666 NR_036235.1:n.-667_-666insT p.? p.? 1 rs139062880 no no 0 0.000000 0 T 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2009_2010insA:p.T670fs . . . 0.26041666 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 96 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139062880 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs139062880 rs139062880 1 1538 10 1.I 0,9,58 +. 3 75786764 C CT - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 insertion frameshift exon GRCh37 75786764 75786765 Chr3(GRCh37):g.75786764_75786765insT 2009 2010 NM_001128223.2:c.2009_2010insA p.Lys672Glufs*79 p.Lys672Glufs*79 5 1732 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs139062880 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.2009_2010insA:p.T670fs . . . 0.26041666 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 96 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139062880 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs139062880 rs139062880 1 1538 10 1.I 0,9,58 +rs76175438 3 75786773 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786773 75786773 Chr3(GRCh37):g.75786773T>A -658 -658 NR_036235.1:n.-658T>A p.? p.? 1 rs76175438 yes no Frequency 1 T 0.000000 0 transversion T A T>A 0.969 0.932 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2001T:p.R667S . . . 0.41414142 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.303 . @ . . . . . 1 0.149 . . 99.0 . . . . . . . . . . -0.6716 -0.960 -0.672 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.096 . . exonic exonic exonic . . 0.155 @ . . . 0.28 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.195 . . 0.132 . . . 0.772 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.727 . . 0 0 0 0 0 0 . 0.470 . . 0.443 . . . . . . 1 0.496 . . . . . 0.145 . 0.519 . HET 0.01 rs76175438 0.054 0.072 . . . . . . . . . . V.26 . . I.71 0.405 . 0.010000 C9JSV9 . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 0.127 0.127000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.104 0.495 . 0.017 . 0.284 0.127 -0.547 0.054 . . rs76175438 rs76175438 1 1538 10 1/0 0,252,255 +rs76175438 3 75786773 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786773 75786773 Chr3(GRCh37):g.75786773T>A 2001 2001 NM_001128223.2:c.2001A>T p.Arg667Ser p.Arg667Ser 5 1724 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76175438 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.969 0.932 R Arg AGA 0.205 S Ser AGT 0.149 667 10 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A2001T:p.R667S . . . 0.41414142 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.303 . @ . . . . . 1 0.149 . . 99.0 . . . . . . . . . . -0.6716 -0.960 -0.672 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.096 . . exonic exonic exonic . . 0.155 @ . . . 0.28 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.195 . . 0.132 . . . 0.772 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.727 . . 0 0 0 0 0 0 . 0.470 . . 0.443 . . . . . . 1 0.496 . . . . . 0.145 . 0.519 . HET 0.01 rs76175438 0.054 0.072 . . . . . . . . . . V.26 . . I.71 0.405 . 0.010000 C9JSV9 . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.093 . 0.127 0.127000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.104 0.495 . 0.017 . 0.284 0.127 -0.547 0.054 . . rs76175438 rs76175438 1 1538 10 1/0 0,252,255 +rs78490340 3 75786784 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786784 75786784 Chr3(GRCh37):g.75786784T>C -647 -647 NR_036235.1:n.-647T>C p.? p.? 1 rs78490340 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.812 234 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1990G:p.I664V . . . 0.25490198 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.011 . . 102.0 . . . . . . . . . . -1.8868 -1.959 -1.887 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.081 . . exonic exonic exonic . . 0.045 @ . . . 0.28 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.031 . . 0.448 . . . 0.051 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.081 . . . . . 0.074 . 0.231 . HET 0.83 rs78490340 0.054 0.043 . . . . . . . . . . III.59 . . I.71 -3.42 . 0.640000 C9JSV9 . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -1.214 -1.214000 . . 0.640000 . . 1.0E-234 0.000 0.063 . 0.016 0.224 . 0.015 . 0.019 -1.214 0.615 0.054 . . rs78490340 rs78490340 1 1538 10 1/0 0,239,255 +rs78490340 3 75786784 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786784 75786784 Chr3(GRCh37):g.75786784T>C 1990 1990 NM_001128223.2:c.1990A>G p.Ile664Val p.Ile664Val 5 1713 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786775 1.66803 0.017719 70.5205 2.66526 0.024438 70.7761 Zinc finger, C2H2 Zinc finger, C2H2-like rs78490340 no no 0 T 0.000000 0 transition A G A>G 0.000 -1.812 I Ile ATA 0.163 V Val GTA 0.114 664 10 1 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Not scored 0.0 0.0 234 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1990G:p.I664V . . . 0.25490198 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.011 . . 102.0 . . . . . . . . . . -1.8868 -1.959 -1.887 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.081 . . exonic exonic exonic . . 0.045 @ . . . 0.28 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.031 . . 0.448 . . . 0.051 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.081 . . . . . 0.074 . 0.231 . HET 0.83 rs78490340 0.054 0.043 . . . . . . . . . . III.59 . . I.71 -3.42 . 0.640000 C9JSV9 . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.093 . -1.214 -1.214000 . . 0.640000 . . 1.0E-234 0.000 0.063 . 0.016 0.224 . 0.015 . 0.019 -1.214 0.615 0.054 . . rs78490340 rs78490340 1 1538 10 1/0 0,239,255 +rs77826574 3 75786802 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786802 75786802 Chr3(GRCh37):g.75786802G>A -629 -629 NR_036235.1:n.-629G>A p.? p.? 1 rs77826574 yes no Frequency 1 G 0.000000 0 0.000082 0.000070 0.000208 0.000000 0.000000 0.000198 0.000043 0.000000 0.000217 0.000208 14 1 5 0 0 4 3 0 1 170102 14340 24008 8100 10390 20246 70586 17834 4598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 5 0 0 4 3 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.770 234 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1972T:p.R658C . . . 0.49074075 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.456 . @ . . . . . 1 0.163 . . 108.0 . . . . . . . . . . -0.6804 -0.915 -0.680 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.176 @ . . . 0.43 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.010 . . 0.505 . . . 0.415 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.632 . . 0 0 0 0 0 0 . 0.647 . . 0.423 . . . . . . 1 0.359 . . . . . 0.043 . 0.501 . HET 0.06 rs77826574 . . . . . . . . . . . . II.98 . . I.71 0.774 . 0.200000 C9JSV9 . . . . . 0.018 . . . 0 7.719e-05 0.0002 0 0 0 1.754e-05 0.0003 0.0002 0.0001 0.0001 0 0 0 0 0.0001 0 . . 0.090 . 0.291 0.291000 . . 0.200000 . . 1.0E-234 0.000 0.063 . 0.016 0.280 . 0.070 . 0.090 0.291 0.562 . . . rs77826574 rs77826574 1 1538 10 1/0 0,255,255 +rs77826574 3 75786802 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786802 75786802 Chr3(GRCh37):g.75786802G>A 1972 1972 NM_001128223.2:c.1972C>T p.Arg658Cys p.Arg658Cys 5 1695 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75786796 0.000102 71.6758 0.00551553 0.0002 73.7791 Zinc finger, C2H2 Zinc finger, C2H2-like rs77826574 yes no Frequency 1 G 0.000000 0 0.000082 0.000070 0.000208 0.000000 0.000000 0.000198 0.000043 0.000000 0.000217 0.000208 14 1 5 0 0 4 3 0 1 170102 14340 24008 8100 10390 20246 70586 17834 4598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 5 0 0 4 3 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.770 R Arg CGC 0.190 C Cys TGC 0.552 658 10 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Not scored 0.0 0.0 234 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1972T:p.R658C . . . 0.49074075 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.456 . @ . . . . . 1 0.163 . . 108.0 . . . . . . . . . . -0.6804 -0.915 -0.680 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.176 @ . . . 0.43 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.010 . . 0.505 . . . 0.415 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.632 . . 0 0 0 0 0 0 . 0.647 . . 0.423 . . . . . . 1 0.359 . . . . . 0.043 . 0.501 . HET 0.06 rs77826574 . . . . . . . . . . . . II.98 . . I.71 0.774 . 0.200000 C9JSV9 . . . . . 0.018 . . . 0 7.719e-05 0.0002 0 0 0 1.754e-05 0.0003 0.0002 0.0001 0.0001 0 0 0 0 0.0001 0 . . 0.090 . 0.291 0.291000 . . 0.200000 . . 1.0E-234 0.000 0.063 . 0.016 0.280 . 0.070 . 0.090 0.291 0.562 . . . rs77826574 rs77826574 1 1538 10 1/0 0,255,255 +. 3 75786817 CACATTCATT C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75786822 75786830 Chr3(GRCh37):g.75786822_75786830del -609 -601 NR_036235.1:n.-609_-601del p.? p.? 1 rs201263569 no no 0 0.000000 0 TCATTACAT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1948_1956del:p.650_652del . . . 0.1262136 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201263569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201263569 rs201263569 1 1538 10 1.I 0,5,90 +. 3 75786817 CACATTCATT C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion in-frame exon GRCh37 75786818 75786826 Chr3(GRCh37):g.75786818_75786826del 1948 1956 NM_001128223.2:c.1948_1956del p.Asn650_Cys652del p.Asn650_Cys652del 5 1671 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs201263569 no no 0 0.000000 0 AATGAATGT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1948_1956del:p.650_652del . . . 0.1262136 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201263569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201263569 rs201263569 1 1538 10 1.I 0,5,90 +rs79635065 3 75786827 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786827 75786827 Chr3(GRCh37):g.75786827A>T -604 -604 NR_036235.1:n.-604A>T p.? p.? 1 rs79635065 no no 0 0.000000 0 transversion A T A>T 0.378 0.367 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1947A:p.C649X . . . 0.773913 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.962 . @ . . . . . 0 0.342 . . 115.0 . . . . . . . . . . -0.0787 -0.473 -0.079 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.233 @ . . . 0.35 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.089 . . . HOM 0.08 rs79635065 0.283 0.254 . . . . . . . . . . III.38 . . I.71 I.71 . 1.000000 . . . . . . 0.060 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 1.073 1.073000 . . 1.000000 . . 1.0E-255 0.432 0.262 . 0.062 0.991 . 0.240 . 0.281 1.073 0.649 0.28 . . rs79635065 rs79635065 1 1538 10 1/0 0,248,243 +rs79635065 3 75786827 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75786827 75786827 Chr3(GRCh37):g.75786827A>T 1947 1947 NM_001128223.2:c.1947T>A p.Cys649* p.Cys649* 5 1670 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs79635065 no no 0 0.000000 0 transversion T A T>A 0.378 0.367 C Cys TGT 0.448 * * TGA 0.489 649 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1947A:p.C649X . . . 0.773913 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.962 . @ . . . . . 0 0.342 . . 115.0 . . . . . . . . . . -0.0787 -0.473 -0.079 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.233 @ . . . 0.35 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.089 . . . HOM 0.08 rs79635065 0.283 0.254 . . . . . . . . . . III.38 . . I.71 I.71 . 1.000000 . . . . . . 0.060 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 1.073 1.073000 . . 1.000000 . . 1.0E-255 0.432 0.262 . 0.062 0.991 . 0.240 . 0.281 1.073 0.649 0.28 . . rs79635065 rs79635065 1 1538 10 1/0 0,248,243 +rs76921234 3 75786854 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786854 75786854 Chr3(GRCh37):g.75786854A>T -577 -577 NR_036235.1:n.-577A>T p.? p.? 1 rs76921234 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.819 -0.198 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1920A:p.T640T . . . 0.46478873 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 142.0 . . . . . . . . . . -0.0406 . . . . . . . . 2.599e-05 . . . 0 0 0 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76921234 0.196 0.174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 . . rs76921234 rs76921234 1 1538 10 1/0 0,240,255 +rs76921234 3 75786854 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786854 75786854 Chr3(GRCh37):g.75786854A>T 1920 1920 NM_001128223.2:c.1920T>A p.Thr640= p.Thr640Thr 5 1643 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76921234 yes no Frequency 1 A 0.000000 0 transversion T A T>A 0.819 -0.198 T Thr ACT 0.243 T Thr ACA 0.280 640 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1920A:p.T640T . . . 0.46478873 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 142.0 . . . . . . . . . . -0.0406 . . . . . . . . 2.599e-05 . . . 0 0 0 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76921234 0.196 0.174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 . . rs76921234 rs76921234 1 1538 10 1/0 0,240,255 +rs78906544 3 75786916 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786916 75786916 Chr3(GRCh37):g.75786916C>A -515 -515 NR_036235.1:n.-515C>A p.? p.? 1 rs78906544 yes no Frequency 1 C 0.000000 0 transversion C A C>A 0.063 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1858T:p.E620X . . . 0.39378238 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.943 . @ . . . . . 0 0.318 . . 193.0 . . . . . . . . . . -0.4200 -0.826 -0.420 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.132 @ . . . 0.3 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.037 . . . HET 0.9 rs78906544 0.033 0.029 . . . . . . . . . . II.99 . . 1.IX -0.0353 . 1.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.007 -0.007000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.981 . 0.002 . 0.028 -0.007 0.542 0.033 . . rs78906544 rs78906544 1 1538 10 1/0 0,222,250 +rs78906544 3 75786916 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75786916 75786916 Chr3(GRCh37):g.75786916C>A 1858 1858 NM_001128223.2:c.1858G>T p.Glu620* p.Glu620* 5 1581 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs78906544 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.063 -0.117 E Glu GAA 0.417 * * TAA 0.277 620 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1858T:p.E620X . . . 0.39378238 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.943 . @ . . . . . 0 0.318 . . 193.0 . . . . . . . . . . -0.4200 -0.826 -0.420 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.132 @ . . . 0.3 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.037 . . . HET 0.9 rs78906544 0.033 0.029 . . . . . . . . . . II.99 . . 1.IX -0.0353 . 1.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.007 -0.007000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.981 . 0.002 . 0.028 -0.007 0.542 0.033 . . rs78906544 rs78906544 1 1538 10 1/0 0,222,250 +rs77101176 3 75786919 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786919 75786919 Chr3(GRCh37):g.75786919A>T -512 -512 NR_036235.1:n.-512A>T p.? p.? 1 rs77101176 no no 0 A 0.000000 0 transversion A T A>T 0.622 3.353 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1855A:p.Y619N . . . 0.3888889 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.545 . @ . . . . . 1 0.368 . . 198.0 . . . . . . . . . . -0.0139 -0.322 -0.014 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.247 @ . . . 0.35 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.050 0.002 . . 37 . 0.498 . . 0.316 . . . 0.721 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.924 . . 0 0 0 0 0 0 . 0.715 . . 0.651 . . . . . . 1 0.632 . . . . . 0.286 . 0.505 . HET 0 rs77101176 0.033 0.029 . . . . . . . . . . VII.03 . . 1.IX 1.IX . 0.000000 C9JSV9 . . . . . 0.109 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.165 1.165000 . . 0.000000 . . 1.0E-255 0.266 0.248 . 0.043 0.936 . 0.632 . 0.310 1.165 0.649 0.033 . . rs77101176 rs77101176 1 1538 10 1/0 0,221,252 +rs77101176 3 75786919 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786919 75786919 Chr3(GRCh37):g.75786919A>T 1855 1855 NM_001128223.2:c.1855T>A p.Tyr619Asn p.Tyr619Asn 5 1578 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77101176 no no 0 A 0.000000 0 transversion T A T>A 0.622 3.353 Y Tyr TAT 0.438 N Asn AAT 0.464 619 10 9 Cow -2 -2 -4 0.2 I.33 6.II 11.VI 136 56 143 C55 21.61 139.96 Deleterious 0 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1855A:p.Y619N . . . 0.3888889 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.545 . @ . . . . . 1 0.368 . . 198.0 . . . . . . . . . . -0.0139 -0.322 -0.014 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.247 @ . . . 0.35 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.050 0.002 . . 37 . 0.498 . . 0.316 . . . 0.721 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.924 . . 0 0 0 0 0 0 . 0.715 . . 0.651 . . . . . . 1 0.632 . . . . . 0.286 . 0.505 . HET 0 rs77101176 0.033 0.029 . . . . . . . . . . VII.03 . . 1.IX 1.IX . 0.000000 C9JSV9 . . . . . 0.109 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.165 1.165000 . . 0.000000 . . 1.0E-255 0.266 0.248 . 0.043 0.936 . 0.632 . 0.310 1.165 0.649 0.033 . . rs77101176 rs77101176 1 1538 10 1/0 0,221,252 +rs757180235 3 75786921 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786921 75786921 Chr3(GRCh37):g.75786921G>A -510 -510 NR_036235.1:n.-510G>A p.? p.? 1 rs757180235 yes no Frequency 1 G 0.000000 0 transition G A G>A 0.984 2.465 190 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1853T:p.P618L . . . 0.13541667 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.698 . . 192.0 . . . . . . . . . . 0.1499 -0.079 0.150 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.275 . . exonic exonic exonic . . 0.247 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.056 0.003 . . 37 . 0.464 . . 0.527 . . . 0.665 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.979 . . 0 0 0 0 0 0 . 0.764 . . 0.564 . . . . . . 1 0.453 . . . . . 0.408 . 0.480 . LowAF 0 . . . . . . . . . . . . . IX.69 . . 1.IX 1.IX . 0.050000 C9JSV9 . . . . . 0.230 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.423 1.423000 . . 0.050000 . . 1.0E-190 1.000 0.715 . 0.016 0.886 . 0.657 . 0.114 1.423 0.562 . rs11122678 rs11122678 . . 1 1538 10 1/0 0,201,255 +rs757180235 3 75786921 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786921 75786921 Chr3(GRCh37):g.75786921G>A 1853 1853 NM_001128223.2:c.1853C>T p.Pro618Leu p.Pro618Leu 5 1576 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs757180235 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.984 2.465 P Pro CCC 0.328 L Leu CTC 0.197 618 10 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 208.63 94.04 Not scored 0.0 0.0 190 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1853T:p.P618L . . . 0.13541667 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.698 . . 192.0 . . . . . . . . . . 0.1499 -0.079 0.150 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.275 . . exonic exonic exonic . . 0.247 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.056 0.003 . . 37 . 0.464 . . 0.527 . . . 0.665 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.979 . . 0 0 0 0 0 0 . 0.764 . . 0.564 . . . . . . 1 0.453 . . . . . 0.408 . 0.480 . LowAF 0 . . . . . . . . . . . . . IX.69 . . 1.IX 1.IX . 0.050000 C9JSV9 . . . . . 0.230 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.423 1.423000 . . 0.050000 . . 1.0E-190 1.000 0.715 . 0.016 0.886 . 0.657 . 0.114 1.423 0.562 . rs11122678 rs11122678 . . 1 1538 10 1/0 0,201,255 +. 3 75786965 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786965 75786965 Chr3(GRCh37):g.75786965C>T -466 -466 NR_036235.1:n.-466C>T p.? p.? 1 transition C T C>T 0.000 0.125 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1809A:p.K603K . . . 0.43137255 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.29 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112478715 0.033 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs76347222 rs112478715 1 1538 10 1/0 0,225,254 +. 3 75786965 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75786965 75786965 Chr3(GRCh37):g.75786965C>T 1809 1809 NM_001128223.2:c.1809G>A p.Lys603= p.Lys603Lys 5 1532 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like transition G A G>A 0.000 0.125 K Lys AAG 0.575 K Lys AAA 0.425 603 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1809A:p.K603K . . . 0.43137255 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.29 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112478715 0.033 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs76347222 rs112478715 1 1538 10 1/0 0,225,254 +rs76496075 3 75786991 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786991 75786991 Chr3(GRCh37):g.75786991C>T -440 -440 NR_036235.1:n.-440C>T p.? p.? 1 rs76496075 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 0.286 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1783A:p.E595K . . . 0.41262135 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.547 . . 206.0 . . . . . . . . . . -0.5673 -0.792 -0.567 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.189 @ . . . 0.29 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.101 . . 0.249 . . . 0.196 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.511 . . 0 0 0 0 0 0 . 0.458 . . 0.477 . . . . . . 1 0.306 . . . . . 0.209 . 0.440 . HET 0.14 rs112348731 0.022 0.022 . . . . . . . . . . VI.34 . . 1.IX 0.993 . 0.050000 C9JSV9 . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.389 0.389000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.134 0.998 . 0.089 . 0.282 0.389 0.542 0.022 . . rs76496075 rs112348731 1 1538 10 1/0 0,223,255 +rs76496075 3 75786991 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786991 75786991 Chr3(GRCh37):g.75786991C>T 1783 1783 NM_001128223.2:c.1783G>A p.Glu595Lys p.Glu595Lys 5 1506 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76496075 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 0.286 E Glu GAA 0.417 K Lys AAA 0.425 595 10 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1783A:p.E595K . . . 0.41262135 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.547 . . 206.0 . . . . . . . . . . -0.5673 -0.792 -0.567 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.189 @ . . . 0.29 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.101 . . 0.249 . . . 0.196 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.511 . . 0 0 0 0 0 0 . 0.458 . . 0.477 . . . . . . 1 0.306 . . . . . 0.209 . 0.440 . HET 0.14 rs112348731 0.022 0.022 . . . . . . . . . . VI.34 . . 1.IX 0.993 . 0.050000 C9JSV9 . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.389 0.389000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.134 0.998 . 0.089 . 0.282 0.389 0.542 0.022 . . rs76496075 rs112348731 1 1538 10 1/0 0,223,255 +rs149887072 3 75786993 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75786993 75786993 Chr3(GRCh37):g.75786993T>A -438 -438 NR_036235.1:n.-438T>A p.? p.? 1 rs149887072 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128178 5998 21414 6818 8460 16948 51550 13628 3362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 80 Exomes transversion T A T>A 0.000 -0.198 196 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1781T:p.N594I . . . 0.14851485 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.458 . @ . . . . . 1 0.383 . . 202.0 . . . . . . . . . . -0.7248 -1.023 -0.725 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.053 @ . . . 0.32 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.109 . . 0.135 . . . 0.376 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.825 . . 0 0 0 0 0 0 . 0.502 . . 0.493 . . . . . . 1 0.721 . . . . . 0.088 . 0.436 . LowAF 0.02 rs149887072 0.011 0.007 . . . . . . . . . . III.31 . . 1.IX -2.88 . 0.150000 C9JSV9 . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.000 . -0.642 -0.642000 . . 0.150000 . . 1.0E-196 0.000 0.063 . 0.114 0.998 . 0.012 . 0.286 -0.642 0.615 0.011 . . rs149887072 rs149887072 1 1538 10 1/0 0,200,255 +rs149887072 3 75786993 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75786993 75786993 Chr3(GRCh37):g.75786993T>A 1781 1781 NM_001128223.2:c.1781A>T p.Asn594Ile p.Asn594Ile 5 1504 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs149887072 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128178 5998 21414 6818 8460 16948 51550 13628 3362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 80 Exomes transversion A T A>T 0.000 -0.198 N Asn AAT 0.464 I Ile ATT 0.356 594 10 1 -2 -3 -6 I.33 0 11.VI 5.II 56 111 149 C0 353.86 0.00 Not scored 0.0 0.0 196 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1781T:p.N594I . . . 0.14851485 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.458 . @ . . . . . 1 0.383 . . 202.0 . . . . . . . . . . -0.7248 -1.023 -0.725 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.053 @ . . . 0.32 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.109 . . 0.135 . . . 0.376 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.825 . . 0 0 0 0 0 0 . 0.502 . . 0.493 . . . . . . 1 0.721 . . . . . 0.088 . 0.436 . LowAF 0.02 rs149887072 0.011 0.007 . . . . . . . . . . III.31 . . 1.IX -2.88 . 0.150000 C9JSV9 . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.000 . -0.642 -0.642000 . . 0.150000 . . 1.0E-196 0.000 0.063 . 0.114 0.998 . 0.012 . 0.286 -0.642 0.615 0.011 . . rs149887072 rs149887072 1 1538 10 1/0 0,200,255 +rs76263679 3 75787015 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787015 75787015 Chr3(GRCh37):g.75787015C>T -416 -416 NR_036235.1:n.-416C>T p.? p.? 1 rs76263679 no no 0 C 0.000000 0 transition C T C>T 0.984 3.918 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1759A:p.G587S . . . 0.35789475 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.677 . @ . . . . . 1 0.648 . . 190.0 . . . . . . . . . . -0.1264 -0.431 -0.126 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.250 . . exonic exonic exonic . . 0.237 @ . . . 0.3 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.048 0.002 . . 37 . 0.461 . . 0.546 . . . 0.320 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.813 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 1 0.614 . . . . . 0.389 . 0.512 . HET 0 rs76263679 0.043 0.036 . . . . . . . . . . IX.91 . . I.76 I.76 . 0.000000 C9JSV9 . . . . . 0.079 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.343 1.343000 . . 0.000000 . . 1.0E-255 0.441 0.263 . 0.043 0.838 . 0.499 . 0.287 1.343 0.542 0.043 . . rs76263679 rs111576331 1 1538 10 1/0 0,221,255 +rs76263679 3 75787015 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787015 75787015 Chr3(GRCh37):g.75787015C>T 1759 1759 NM_001128223.2:c.1759G>A p.Gly587Ser p.Gly587Ser 5 1482 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs76263679 no no 0 C 0.000000 0 transition G A G>A 0.984 3.918 G Gly GGC 0.342 S Ser AGC 0.243 587 10 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1759A:p.G587S . . . 0.35789475 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.677 . @ . . . . . 1 0.648 . . 190.0 . . . . . . . . . . -0.1264 -0.431 -0.126 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.250 . . exonic exonic exonic . . 0.237 @ . . . 0.3 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.048 0.002 . . 37 . 0.461 . . 0.546 . . . 0.320 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.813 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 1 0.614 . . . . . 0.389 . 0.512 . HET 0 rs76263679 0.043 0.036 . . . . . . . . . . IX.91 . . I.76 I.76 . 0.000000 C9JSV9 . . . . . 0.079 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.343 1.343000 . . 0.000000 . . 1.0E-255 0.441 0.263 . 0.043 0.838 . 0.499 . 0.287 1.343 0.542 0.043 . . rs76263679 rs111576331 1 1538 10 1/0 0,221,255 +rs76729736 3 75787032 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787032 75787032 Chr3(GRCh37):g.75787032T>C -399 -399 NR_036235.1:n.-399T>C p.? p.? 1 rs76729736 no no 0 T 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000676 0.000000 0.000000 0.000000 0.000000 0.000676 5 0 0 0 5 0 0 0 0 98168 5336 16764 4328 7400 10806 41562 9338 2634 0.200000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 3 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 86 Exomes transition T C T>C 0.992 1.820 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1742G:p.H581R . . . 0.36507937 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.378 . @ . . . . . 1 0.057 . . 189.0 . . . . . . . . . . -0.6022 -0.767 -0.602 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.161 @ . . . 0.34 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.164 0.006 . . 37 . 0.893 . . 0.838 . . . 0.959 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.944 . . 0 0 0 0 0 0 . 0.192 . . 0.220 . . . . . . 1 0.450 . . . . . 0.156 . 0.518 . HET 0 rs111273070 0.022 0.014 . . . . . . . . . . V.55 . . I.76 0.513 . 0.010000 C9JSV9 . . . . . 0.230 . . . 0 5.093e-05 0 0 0.0007 0 0 0 0 . . . . . . . . . . 0.321 . 0.158 0.158000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.083 0.536 . 0.424 . 0.117 0.158 0.615 0.022 . . rs76729736 rs111273070 1 1538 10 1/0 0,223,255 +rs76729736 3 75787032 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787032 75787032 Chr3(GRCh37):g.75787032T>C 1742 1742 NM_001128223.2:c.1742A>G p.His581Arg p.His581Arg 5 1465 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs76729736 no no 0 T 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000676 0.000000 0.000000 0.000000 0.000000 0.000676 5 0 0 0 5 0 0 0 0 98168 5336 16764 4328 7400 10806 41562 9338 2634 0.200000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 3 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 86 Exomes transition A G A>G 0.992 1.820 H His CAT 0.413 R Arg CGT 0.082 581 10 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1742G:p.H581R . . . 0.36507937 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.378 . @ . . . . . 1 0.057 . . 189.0 . . . . . . . . . . -0.6022 -0.767 -0.602 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.161 @ . . . 0.34 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.164 0.006 . . 37 . 0.893 . . 0.838 . . . 0.959 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.944 . . 0 0 0 0 0 0 . 0.192 . . 0.220 . . . . . . 1 0.450 . . . . . 0.156 . 0.518 . HET 0 rs111273070 0.022 0.014 . . . . . . . . . . V.55 . . I.76 0.513 . 0.010000 C9JSV9 . . . . . 0.230 . . . 0 5.093e-05 0 0 0.0007 0 0 0 0 . . . . . . . . . . 0.321 . 0.158 0.158000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.083 0.536 . 0.424 . 0.117 0.158 0.615 0.022 . . rs76729736 rs111273070 1 1538 10 1/0 0,223,255 +. 3 75787098 CCT C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75787099 75787100 Chr3(GRCh37):g.75787099_75787100del -332 -331 NR_036235.1:n.-332_-331del p.? p.? 1 0.000141 0.000097 0.000140 0.000000 0.000000 0.000551 0.000145 0.000000 0.000000 0.000551 13 1 2 0 0 4 6 0 0 92296 10284 14308 2522 7894 7258 41320 6040 2670 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 2 0 0 4 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes CT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1674_1675del:p.T558fs . . . 0.36125654 . . . 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146514807 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0 0 0 0.0002 0 0.0006 0.0002 9.288e-05 0 0 0 0 9.372e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74340838 rs146514807 1 1538 10 1.I 0,11,44 +. 3 75787098 CCT C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion frameshift exon GRCh37 75787099 75787100 Chr3(GRCh37):g.75787099_75787100del 1674 1675 NM_001128223.2:c.1674_1675del p.Glu560Lysfs*4 p.Glu560Lysfs*4 5 1397 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 0.000141 0.000097 0.000140 0.000000 0.000000 0.000551 0.000145 0.000000 0.000000 0.000551 13 1 2 0 0 4 6 0 0 92296 10284 14308 2522 7894 7258 41320 6040 2670 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 2 0 0 4 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AG 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1674_1675del:p.T558fs . . . 0.36125654 . . . 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146514807 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0 0 0 0.0002 0 0.0006 0.0002 9.288e-05 0 0 0 0 9.372e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74340838 rs146514807 1 1538 10 1.I 0,11,44 +rs77490669 3 75787116 T G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787116 75787116 Chr3(GRCh37):g.75787116T>G -315 -315 NR_036235.1:n.-315T>G p.? p.? 1 rs77490669 no no 0 T 0.000000 0 transversion T G T>G 1.000 3.353 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1658C:p.H553P . . . 0.38423645 . . @ 78 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.541 . @ . . . . . 1 0.183 . . 203.0 . . . . . . . . . . 0.3603 0.050 0.360 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.248 @ . . . 0.27 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.135 0.005 . . 37 . 0.944 . . 0.945 . . . 0.964 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.986 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.682 . . . . . 0.288 . 0.593 . HET 0 rs77490669 0.033 0.029 . . . . . . . . . . VII.64 . . I.92 I.92 . 0.000000 C9JSV9 . . . . . 0.292 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.189 1.189000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.111 0.665 . 0.685 . 0.286 1.189 0.615 0.033 . . rs77490669 rs142824987 1 1538 10 1/0 0,221,255 +rs77490669 3 75787116 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787116 75787116 Chr3(GRCh37):g.75787116T>G 1658 1658 NM_001128223.2:c.1658A>C p.His553Pro p.His553Pro 5 1381 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77490669 no no 0 T 0.000000 0 transversion A C A>C 1.000 3.353 H His CAT 0.413 P Pro CCT 0.283 553 10 1 -2 -2 -4 0.58 0.39 10.IV 8 96 32.5 77 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1658C:p.H553P . . . 0.38423645 . . @ 78 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.541 . @ . . . . . 1 0.183 . . 203.0 . . . . . . . . . . 0.3603 0.050 0.360 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.248 @ . . . 0.27 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.135 0.005 . . 37 . 0.944 . . 0.945 . . . 0.964 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.986 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.682 . . . . . 0.288 . 0.593 . HET 0 rs77490669 0.033 0.029 . . . . . . . . . . VII.64 . . I.92 I.92 . 0.000000 C9JSV9 . . . . . 0.292 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 1.189 1.189000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.111 0.665 . 0.685 . 0.286 1.189 0.615 0.033 . . rs77490669 rs142824987 1 1538 10 1/0 0,221,255 +rs74740396 3 75787127 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787127 75787127 Chr3(GRCh37):g.75787127G>T -304 -304 NR_036235.1:n.-304G>T p.? p.? 1 rs74740396 no no 0 G 0.000000 0 transversion G T G>T 0.008 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1647A:p.Y549X . . . 0.4329897 . . @ 84 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.925 . @ . . . . . 0 0.304 . . 194.0 . . . . . . . . . . -0.5294 -0.984 -0.529 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.039 @ . . . 0.28 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.055 . . . HET 0 rs74740396 0.033 0.029 . . . . . . . . . . II.18 . . I.92 -3.85 . 1.000000 . . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.090 . -0.987 -0.987000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.166 . 0.034 . 0.021 -0.987 -0.617 0.033 . . rs74740396 rs148624740 1 1538 10 1/0 0,227,255 +rs74740396 3 75787127 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75787127 75787127 Chr3(GRCh37):g.75787127G>T 1647 1647 NM_001128223.2:c.1647C>A p.Tyr549* p.Tyr549* 5 1370 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs74740396 no no 0 G 0.000000 0 transversion C A C>A 0.008 -0.117 Y Tyr TAC 0.562 * * TAA 0.277 549 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1647A:p.Y549X . . . 0.4329897 . . @ 84 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.925 . @ . . . . . 0 0.304 . . 194.0 . . . . . . . . . . -0.5294 -0.984 -0.529 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.039 @ . . . 0.28 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.055 . . . HET 0 rs74740396 0.033 0.029 . . . . . . . . . . II.18 . . I.92 -3.85 . 1.000000 . . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.090 . -0.987 -0.987000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.166 . 0.034 . 0.021 -0.987 -0.617 0.033 . . rs74740396 rs148624740 1 1538 10 1/0 0,227,255 +rs79560192 3 75787145 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787145 75787145 Chr3(GRCh37):g.75787145T>C -286 -286 NR_036235.1:n.-286T>C p.? p.? 1 rs79560192 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 -2.377 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1629G:p.T543T . . . 0.59358287 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.3940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79560192 0.196 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 rs12562389 rs12562389 rs79560192 rs148329308 1 1538 10 1/0 0,240,249 +rs79560192 3 75787145 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787145 75787145 Chr3(GRCh37):g.75787145T>C 1629 1629 NM_001128223.2:c.1629A>G p.Thr543= p.Thr543Thr 5 1352 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs79560192 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 -2.377 T Thr ACA 0.280 T Thr ACG 0.116 543 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1629G:p.T543T . . . 0.59358287 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.3940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79560192 0.196 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 rs12562389 rs12562389 rs79560192 rs148329308 1 1538 10 1/0 0,240,249 +rs77322475 3 75787159 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787159 75787159 Chr3(GRCh37):g.75787159C>T -272 -272 NR_036235.1:n.-272C>T p.? p.? 1 rs77322475 yes no Frequency 1 C 0.000000 0 0.000488 0.000219 0.000000 0.000000 0.000000 0.004466 0.000260 0.000000 0.000000 0.004466 35 2 0 0 0 25 8 0 0 71748 9134 11448 1584 7238 5598 30828 3776 2142 0.000084 0.000000 0.000000 0.000000 0.000000 0.000715 0.000065 0.000000 0.000000 3 0 0 0 0 2 1 0 0 29 2 0 0 0 21 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1615A:p.E539K . . . 0.7433155 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.105 . . 187.0 . . . . . . . . . . -1.6583 -1.788 -1.658 c . . . . . 3.179e-04 . . . 0 0.0035 0 0 0 0.0041 0 0.0070 0 0.0029 0 0 0 0 . 0.0070 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.043 @ . . . 0.35 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Likely_benign . 0 . . . . . . T 0.012 0.001 . . 37 . 0.040 . . 0.357 . . . 0.335 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.291 . . 0.158 . . . . . . 1 0.379 . . . . . 0.013 . 0.432 . HET 0.02 rs77322475 0.337 0.304 . . . . . . . . . . 0.9706 . . 1.VIII -3.59 . 0.080000 C9JSV9 . . . . . 0.016 . . . 0.0002 0.0006 0 0 0 0 0.0003 0 0.0045 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.321 . -1.049 -1.049000 . . 0.080000 . . 1.0E-255 0.000 0.063 . 0.043 0.289 . 0.020 . 0.031 -1.049 -1.906 0.34 . . rs77322475 rs201980888 1 1538 10 1/0 0,243,241 +rs77322475 3 75787159 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787159 75787159 Chr3(GRCh37):g.75787159C>T 1615 1615 NM_001128223.2:c.1615G>A p.Glu539Lys p.Glu539Lys 5 1338 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77322475 yes no Frequency 1 C 0.000000 0 0.000488 0.000219 0.000000 0.000000 0.000000 0.004466 0.000260 0.000000 0.000000 0.004466 35 2 0 0 0 25 8 0 0 71748 9134 11448 1584 7238 5598 30828 3776 2142 0.000084 0.000000 0.000000 0.000000 0.000000 0.000715 0.000065 0.000000 0.000000 3 0 0 0 0 2 1 0 0 29 2 0 0 0 21 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.198 E Glu GAA 0.417 K Lys AAA 0.425 539 10 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1615A:p.E539K . . . 0.7433155 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.105 . . 187.0 . . . . . . . . . . -1.6583 -1.788 -1.658 c . . . . . 3.179e-04 . . . 0 0.0035 0 0 0 0.0041 0 0.0070 0 0.0029 0 0 0 0 . 0.0070 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.043 @ . . . 0.35 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Likely_benign . 0 . . . . . . T 0.012 0.001 . . 37 . 0.040 . . 0.357 . . . 0.335 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.291 . . 0.158 . . . . . . 1 0.379 . . . . . 0.013 . 0.432 . HET 0.02 rs77322475 0.337 0.304 . . . . . . . . . . 0.9706 . . 1.VIII -3.59 . 0.080000 C9JSV9 . . . . . 0.016 . . . 0.0002 0.0006 0 0 0 0 0.0003 0 0.0045 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.321 . -1.049 -1.049000 . . 0.080000 . . 1.0E-255 0.000 0.063 . 0.043 0.289 . 0.020 . 0.031 -1.049 -1.906 0.34 . . rs77322475 rs201980888 1 1538 10 1/0 0,243,241 +rs202060190 3 75787194 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787194 75787194 Chr3(GRCh37):g.75787194C>T -237 -237 NR_036235.1:n.-237C>T p.? p.? 1 rs202060190 no no 0 C 0.000000 0 transition C T C>T 0.992 0.932 189 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1580A:p.R527K . . . 0.13333334 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.402 . @ . . . . . 1 0.295 . . 150.0 . . . . . . . . . . -0.8450 -0.964 -0.845 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.182 @ . . . 0.35 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.058 0.003 . . 37 . 0.092 . . 0.245 . . . 0.125 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.429 . . 0 0 0 0 0 0 . 0.444 . . 0.416 . . . . . . 1 0.096 . . . . . 0.211 . 0.378 . LowAF 0.08 rs202060190 0.011 0.007 . . . . . . . . . . VI.89 . . I.79 0.879 . 0.170000 C9JSV9 . . . . . 0.056 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.362 0.362000 . . 0.170000 . . 1.0E-189 0.000 0.063 . 0.043 0.291 . 0.126 . 0.287 0.362 -0.269 0.011 . . rs202060190 rs202060190 1 1538 10 1/0 0,212,255 +rs202060190 3 75787194 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787194 75787194 Chr3(GRCh37):g.75787194C>T 1580 1580 NM_001128223.2:c.1580G>A p.Arg527Lys p.Arg527Lys 5 1303 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs202060190 no no 0 C 0.000000 0 transition G A G>A 0.992 0.932 R Arg AGA 0.205 K Lys AAA 0.425 527 10 6 Opossum 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 241.65 0.00 Tolerated 0.18 III.94 189 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1580A:p.R527K . . . 0.13333334 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.402 . @ . . . . . 1 0.295 . . 150.0 . . . . . . . . . . -0.8450 -0.964 -0.845 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.182 @ . . . 0.35 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.058 0.003 . . 37 . 0.092 . . 0.245 . . . 0.125 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.429 . . 0 0 0 0 0 0 . 0.444 . . 0.416 . . . . . . 1 0.096 . . . . . 0.211 . 0.378 . LowAF 0.08 rs202060190 0.011 0.007 . . . . . . . . . . VI.89 . . I.79 0.879 . 0.170000 C9JSV9 . . . . . 0.056 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.362 0.362000 . . 0.170000 . . 1.0E-189 0.000 0.063 . 0.043 0.291 . 0.126 . 0.287 0.362 -0.269 0.011 . . rs202060190 rs202060190 1 1538 10 1/0 0,212,255 +. 3 75787202 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787202 75787202 Chr3(GRCh37):g.75787202G>T -229 -229 NR_036235.1:n.-229G>T p.? p.? 1 transversion G T G>T 0.000 -1.651 229 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1572A:p.V524V . . . 0.23913044 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . . . . . . . . . -0.5269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs76713735 rs76713735 1 1538 10 1/0 0,225,255 +. 3 75787202 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787202 75787202 Chr3(GRCh37):g.75787202G>T 1572 1572 NM_001128223.2:c.1572C>A p.Val524= p.Val524Val 5 1295 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like transversion C A C>A 0.000 -1.651 V Val GTC 0.240 V Val GTA 0.114 524 229 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1572A:p.V524V . . . 0.23913044 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . . . . . . . . . -0.5269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs76713735 rs76713735 1 1538 10 1/0 0,225,255 +. 3 75787204 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787204 75787204 Chr3(GRCh37):g.75787204C>A -227 -227 NR_036235.1:n.-227C>A p.? p.? 1 transversion C A C>A 0.000 -1.086 231 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1570T:p.V524F . . . 0.24626866 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.259 . . 134.0 . . . . . . . . . . -1.1143 -1.361 -1.114 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.043 @ . . . 0.35 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.058 . . 0.246 . . . 0.241 0.191 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.468 . . 0.409 . . . . . . 1 0.398 . . . . . 0.096 . 0.473 . HET 0.15 . . . . . . . . . . . . . 4.1379 . . I.79 -3.58 . 0.340000 C9JSV9 . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -1.068 -1.068000 . . 0.340000 . . 1.0E-231 0.000 0.063 . 0.016 0.060 . 0.006 . 0.008 -1.068 -0.609 . . . rs75063165 rs75063165 1 1538 10 1/0 0,227,255 +. 3 75787204 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787204 75787204 Chr3(GRCh37):g.75787204C>A 1570 1570 NM_001128223.2:c.1570G>T p.Val524Phe p.Val524Phe 5 1293 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787195 5.31149 0.25346 77.5492 6.582 0.643495 83.0019 Zinc finger, C2H2 Zinc finger, C2H2-like transversion G T G>T 0.000 -1.086 V Val GTC 0.240 F Phe TTC 0.546 524 10 5 Opossum 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Deleterious 0.03 III.94 231 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1570T:p.V524F . . . 0.24626866 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.259 . . 134.0 . . . . . . . . . . -1.1143 -1.361 -1.114 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.043 @ . . . 0.35 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.058 . . 0.246 . . . 0.241 0.191 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.468 . . 0.409 . . . . . . 1 0.398 . . . . . 0.096 . 0.473 . HET 0.15 . . . . . . . . . . . . . 4.1379 . . I.79 -3.58 . 0.340000 C9JSV9 . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -1.068 -1.068000 . . 0.340000 . . 1.0E-231 0.000 0.063 . 0.016 0.060 . 0.006 . 0.008 -1.068 -0.609 . . . rs75063165 rs75063165 1 1538 10 1/0 0,227,255 +. 3 75787264 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787264 75787264 Chr3(GRCh37):g.75787264C>T -167 -167 NR_036235.1:n.-167C>T p.? p.? 1 rs796543994 no no 0 0.000000 0 transition C T C>T 1.000 2.465 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1510A:p.E504K . . . 0.37719297 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.666 . @ . . . . . 1 0.910 . . 114.0 . . . . . . . . . . -0.6570 -0.698 -0.657 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.243 . . exonic exonic exonic . . 0.180 @ . . . 0.34 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.118 0.005 . . 37 . 0.198 . . 0.223 . . . 0.255 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.646 . . 0 0 0 0 0 0 . 0.332 . . 0.348 . . . . . . 1 0.632 . . . . . 0.225 . 0.474 . HET 0 rs149301206 . . . . . . . . . . . . 6.743 . . I.76 0.847 . 0.020000 C9JSV9 . . . . . 0.160 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.338 0.338000 . . 0.020000 . . 1.0E-255 0.915 0.316 . 0.043 0.475 . 0.436 . 0.026 0.338 0.542 . . . rs80019510 rs149301206 1 1538 10 1/0 0,245,255 +. 3 75787264 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787264 75787264 Chr3(GRCh37):g.75787264C>T 1510 1510 NM_001128223.2:c.1510G>A p.Glu504Lys p.Glu504Lys 5 1233 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs796543994 no no 0 0.000000 0 transition G A G>A 1.000 2.465 E Glu GAA 0.417 K Lys AAA 0.425 504 10 2 Opossum 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.15 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1510A:p.E504K . . . 0.37719297 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.666 . @ . . . . . 1 0.910 . . 114.0 . . . . . . . . . . -0.6570 -0.698 -0.657 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.243 . . exonic exonic exonic . . 0.180 @ . . . 0.34 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.118 0.005 . . 37 . 0.198 . . 0.223 . . . 0.255 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.646 . . 0 0 0 0 0 0 . 0.332 . . 0.348 . . . . . . 1 0.632 . . . . . 0.225 . 0.474 . HET 0 rs149301206 . . . . . . . . . . . . 6.743 . . I.76 0.847 . 0.020000 C9JSV9 . . . . . 0.160 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.338 0.338000 . . 0.020000 . . 1.0E-255 0.915 0.316 . 0.043 0.475 . 0.436 . 0.026 0.338 0.542 . . . rs80019510 rs149301206 1 1538 10 1/0 0,245,255 +. 3 75787265 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787265 75787265 Chr3(GRCh37):g.75787265C>G -166 -166 NR_036235.1:n.-166C>G p.? p.? 1 transversion C G C>G 0.984 -0.440 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1509C:p.G503G . . . 0.5233645 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs144538707 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . rs77829652 rs144538707 1 1538 10 1/0 0,255,255 +. 3 75787265 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787265 75787265 Chr3(GRCh37):g.75787265C>G 1509 1509 NM_001128223.2:c.1509G>C p.Gly503= p.Gly503Gly 5 1232 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 transversion G C G>C 0.984 -0.440 G Gly GGG 0.250 G Gly GGC 0.342 503 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1509C:p.G503G . . . 0.5233645 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs144538707 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . rs77829652 rs144538707 1 1538 10 1/0 0,255,255 +rs774073278 3 75787269 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787269 75787269 Chr3(GRCh37):g.75787269G>T -162 -162 NR_036235.1:n.-162G>T p.? p.? 1 rs774073278 yes no Frequency 1 G 0.000000 0 transversion G T G>T 1.000 2.546 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1505A:p.T502K . . . 0.13793103 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.639 . @ . . . . . 1 0.377 . . 116.0 . . . . . . . . . . -0.1066 -0.268 -0.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.245 . . exonic exonic exonic . . 0.185 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.107 0.004 . . 37 . 0.271 . . 0.410 . . . 0.307 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.873 . . 0 0 0 0 0 0 . 0.637 . . 0.457 . . . . . . 1 0.721 . . . . . 0.263 . 0.416 . LowAF 0 . 0.033 0.022 . . . . . . . . . . VII.82 . . 1.IX 0.935 . 0.000000 C9JSV9 . . . . . 0.205 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.365 0.365000 . . 0.000000 . . 1.0E-191 0.991 0.370 . 0.143 0.360 . 0.418 . 0.103 0.365 0.562 0.033 . . . . 1 1538 10 1/0 0,223,255 +rs774073278 3 75787269 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787269 75787269 Chr3(GRCh37):g.75787269G>T 1505 1505 NM_001128223.2:c.1505C>A p.Thr502Lys p.Thr502Lys 5 1228 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs774073278 yes no Frequency 1 G 0.000000 0 transversion C A C>A 1.000 2.546 T Thr ACA 0.280 K Lys AAA 0.425 502 10 3 Opossum -1 -1 -1 0.71 0.33 8.VI 11.III 61 119 78 C0 353.86 0.00 Deleterious 0 IV.32 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1505A:p.T502K . . . 0.13793103 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.639 . @ . . . . . 1 0.377 . . 116.0 . . . . . . . . . . -0.1066 -0.268 -0.107 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.245 . . exonic exonic exonic . . 0.185 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.107 0.004 . . 37 . 0.271 . . 0.410 . . . 0.307 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.873 . . 0 0 0 0 0 0 . 0.637 . . 0.457 . . . . . . 1 0.721 . . . . . 0.263 . 0.416 . LowAF 0 . 0.033 0.022 . . . . . . . . . . VII.82 . . 1.IX 0.935 . 0.000000 C9JSV9 . . . . . 0.205 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.365 0.365000 . . 0.000000 . . 1.0E-191 0.991 0.370 . 0.143 0.360 . 0.418 . 0.103 0.365 0.562 0.033 . . . . 1 1538 10 1/0 0,223,255 +. 3 75787273 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787273 75787273 Chr3(GRCh37):g.75787273G>T -158 -158 NR_036235.1:n.-158G>T p.? p.? 1 transversion G T G>T 1.000 3.999 196 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1501A:p.H501N . . . 0.14876033 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.616 . @ . . . . . 1 0.356 . . 121.0 . . . . . . . . . . 0.4223 0.194 0.422 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.672 . . exonic exonic exonic . . 0.247 @ . . . 0.39 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.237 0.009 . . 37 . 0.818 . . 0.848 . . . 0.881 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . 0.764 . . 0.832 . . . . . . 1 0.912 . . . . . 0.407 . 0.392 . LowAF 0 . . . . . . . . . . . . . IX.07 . . 1.IX 1.IX . 0.010000 C9JSV9 . . . . . 0.269 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 1.438 1.438000 . . 0.010000 . . 1.0E-196 1.000 0.715 . 0.181 0.279 . 0.652 . 0.294 1.438 0.562 . . . rs77118311 rs77118311 1 1538 10 1/0 0,222,255 +. 3 75787273 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787273 75787273 Chr3(GRCh37):g.75787273G>T 1501 1501 NM_001128223.2:c.1501C>A p.His501Asn p.His501Asn 5 1224 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like transversion C A C>A 1.000 3.999 H His CAC 0.587 N Asn AAC 0.536 501 10 3 Opossum 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 353.86 0.00 Deleterious 0 IV.32 196 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1501A:p.H501N . . . 0.14876033 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.616 . @ . . . . . 1 0.356 . . 121.0 . . . . . . . . . . 0.4223 0.194 0.422 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.672 . . exonic exonic exonic . . 0.247 @ . . . 0.39 0.2 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.237 0.009 . . 37 . 0.818 . . 0.848 . . . 0.881 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.933 . . 0 0 0 0 0 0 . 0.764 . . 0.832 . . . . . . 1 0.912 . . . . . 0.407 . 0.392 . LowAF 0 . . . . . . . . . . . . . IX.07 . . 1.IX 1.IX . 0.010000 C9JSV9 . . . . . 0.269 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 1.438 1.438000 . . 0.010000 . . 1.0E-196 1.000 0.715 . 0.181 0.279 . 0.652 . 0.294 1.438 0.562 . . . rs77118311 rs77118311 1 1538 10 1/0 0,222,255 +rs113168258 3 75787276 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787276 75787276 Chr3(GRCh37):g.75787276T>C -155 -155 NR_036235.1:n.-155T>C p.? p.? 1 rs113168258 no no 0 T 0.000000 0 transition T C T>C 0.890 1.820 237 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1498G:p.T500A . . . 0.2631579 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.262 . @ . . . . . 1 0.228 . . 114.0 . . . . . . . . . . -0.6860 -0.784 -0.686 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.247 @ . . . 0.31 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.189 . . 0.225 . . . 0.189 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.383 . . 0 0 0 0 0 0 . 0.292 . . 0.304 . . . . . . 1 0.457 . . . . . 0.285 . 0.405 . HET 0.37 rs113168258 0.022 0.014 . . . . . . . . . . 7.866 . . 1.IX 1.IX . 0.020000 C9JSV9 . . . . . 0.074 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 1.177 1.177000 . . 0.020000 . . 1.0E-237 0.000 0.063 . 0.165 0.162 . 0.182 . 0.115 1.177 0.615 0.022 . . rs113168258 rs113168258 1 1538 10 1/0 0,235,255 +rs113168258 3 75787276 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787276 75787276 Chr3(GRCh37):g.75787276T>C 1498 1498 NM_001128223.2:c.1498A>G p.Thr500Ala p.Thr500Ala 5 1221 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787266 2.27804 0.005337 72.8539 3.23531 0.012335 72.912 Zinc finger, C2H2 Zinc finger, C2H2-like rs113168258 no no 0 T 0.000000 0 transition A G A>G 0.890 1.820 T Thr ACT 0.243 A Ala GCT 0.263 500 10 2 Rabbit 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.12 IV.32 237 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1498G:p.T500A . . . 0.2631579 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.262 . @ . . . . . 1 0.228 . . 114.0 . . . . . . . . . . -0.6860 -0.784 -0.686 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.247 @ . . . 0.31 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.189 . . 0.225 . . . 0.189 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.383 . . 0 0 0 0 0 0 . 0.292 . . 0.304 . . . . . . 1 0.457 . . . . . 0.285 . 0.405 . HET 0.37 rs113168258 0.022 0.014 . . . . . . . . . . 7.866 . . 1.IX 1.IX . 0.020000 C9JSV9 . . . . . 0.074 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 1.177 1.177000 . . 0.020000 . . 1.0E-237 0.000 0.063 . 0.165 0.162 . 0.182 . 0.115 1.177 0.615 0.022 . . rs113168258 rs113168258 1 1538 10 1/0 0,235,255 +rs77311242 3 75787304 A T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787304 75787304 Chr3(GRCh37):g.75787304A>T -127 -127 NR_036235.1:n.-127A>T p.? p.? 1 rs77311242 no no 0 A 0.000000 0 transversion A T A>T 0.000 -1.247 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1470A:p.R490R . . . 0.5585586 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.4695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77311242 rs77311242 1 1538 10 1/0 0,255,255 +rs77311242 3 75787304 A T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787304 75787304 Chr3(GRCh37):g.75787304A>T 1470 1470 NM_001128223.2:c.1470T>A p.Arg490= p.Arg490Arg 5 1193 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77311242 no no 0 A 0.000000 0 transversion T A T>A 0.000 -1.247 R Arg CGT 0.082 R Arg CGA 0.110 490 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1470A:p.R490R . . . 0.5585586 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.4695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77311242 rs77311242 1 1538 10 1/0 0,255,255 +rs77389541 3 75787305 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787305 75787305 Chr3(GRCh37):g.75787305C>T -126 -126 NR_036235.1:n.-126C>T p.? p.? 1 rs77389541 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41274 3748 6474 1114 4460 3610 17486 3296 1086 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 74 Exomes transition C T C>T 0.000 -2.619 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1469A:p.R490H . . . 0.5689655 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.086 . . 116.0 . . . . . . . . . . -2.1995 -2.306 -2.200 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.037 @ . . . 0.29 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.006 . . 0.444 . . . 0.196 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 1 0.122 . . . . . 0.148 . 0.287 . HET 0.55 . . . . . . . . . . . . . V.48 . . 2.V -4.1 . 0.610000 C9JSV9 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.090 . -2.702 -2.702000 . . 0.610000 . . 1.0E-255 0.000 0.063 . 0.016 0.767 . 0.009 . 0.002 -2.702 0.542 . . . rs77389541 rs77389541 1 1538 10 1/0 0,255,255 +rs77389541 3 75787305 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787305 75787305 Chr3(GRCh37):g.75787305C>T 1469 1469 NM_001128223.2:c.1469G>A p.Arg490His p.Arg490His 5 1192 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs77389541 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41274 3748 6474 1114 4460 3610 17486 3296 1086 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 74 Exomes transition G A G>A 0.000 -2.619 R Arg CGT 0.082 H His CAT 0.413 490 10 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.37 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1469A:p.R490H . . . 0.5689655 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.086 . . 116.0 . . . . . . . . . . -2.1995 -2.306 -2.200 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.037 @ . . . 0.29 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.006 . . 0.444 . . . 0.196 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 1 0.122 . . . . . 0.148 . 0.287 . HET 0.55 . . . . . . . . . . . . . V.48 . . 2.V -4.1 . 0.610000 C9JSV9 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.090 . -2.702 -2.702000 . . 0.610000 . . 1.0E-255 0.000 0.063 . 0.016 0.767 . 0.009 . 0.002 -2.702 0.542 . . . rs77389541 rs77389541 1 1538 10 1/0 0,255,255 +rs148436228 3 75787317 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787317 75787317 Chr3(GRCh37):g.75787317T>A -114 -114 NR_036235.1:n.-114T>A p.? p.? 1 rs148436228 no no 0 T 0.000000 0 transversion T A T>A 0.079 1.093 232 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1457T:p.K486I . . . 0.24793388 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.546 . @ . . . . . 1 0.603 . . 121.0 . . . . . . . . . . 0.0263 -0.292 0.026 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . 0.181 @ . . . 0.31 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.022 0.001 . . 37 . 0.577 . . 0.445 . . . 0.828 0.354 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.954 . . 0 0 0 0 0 0 . 0.657 . . 0.739 . . . . . . 1 0.784 . . . . . 0.162 . 0.506 . HET 0 rs148436228 . 0.014 . . . . . . . . . . V.97 . . 2.VII 0.856 . 0.000000 C9JSV9 . . . . . 0.179 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.282 0.282000 . . 0.000000 . . 1.0E-232 0.989 0.365 . 0.248 0.992 . 0.440 . 0.295 0.282 0.615 . . . rs148436228 rs148436228 1 1538 10 1/0 0,232,255 +rs148436228 3 75787317 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787317 75787317 Chr3(GRCh37):g.75787317T>A 1457 1457 NM_001128223.2:c.1457A>T p.Lys486Ile p.Lys486Ile 5 1180 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs148436228 no no 0 T 0.000000 0 transversion A T A>T 0.079 1.093 K Lys AAA 0.425 I Ile ATA 0.163 486 10 3 Opossum -3 -3 -5 0.33 0 11.III 5.II 119 111 102 C0 353.86 0.00 Deleterious 0 IV.32 232 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1457T:p.K486I . . . 0.24793388 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.546 . @ . . . . . 1 0.603 . . 121.0 . . . . . . . . . . 0.0263 -0.292 0.026 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . 0.181 @ . . . 0.31 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.022 0.001 . . 37 . 0.577 . . 0.445 . . . 0.828 0.354 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.954 . . 0 0 0 0 0 0 . 0.657 . . 0.739 . . . . . . 1 0.784 . . . . . 0.162 . 0.506 . HET 0 rs148436228 . 0.014 . . . . . . . . . . V.97 . . 2.VII 0.856 . 0.000000 C9JSV9 . . . . . 0.179 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.282 0.282000 . . 0.000000 . . 1.0E-232 0.989 0.365 . 0.248 0.992 . 0.440 . 0.295 0.282 0.615 . . . rs148436228 rs148436228 1 1538 10 1/0 0,232,255 +. 3 75787347 TCCC T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion upstream GRCh37 75787349 75787351 Chr3(GRCh37):g.75787349_75787351del -82 -80 NR_036235.1:n.-82_-80del p.? p.? 1 rs369031878 no no 0 0.000000 0 CCC 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1424_1426del:p.475_476del . . . 0.5225225 . . . 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369031878 . . . . . . ID\x3dCOSM1425335\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369031878 rs369031878 1 1538 10 1.I 0,12,28 +. 3 75787347 TCCC T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion in-frame exon GRCh37 75787348 75787350 Chr3(GRCh37):g.75787348_75787350del 1424 1426 NM_001128223.2:c.1424_1426del p.Gly475del p.Gly475del 5 1147 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs369031878 no no 0 0.000000 0 GGG 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1424_1426del:p.475_476del . . . 0.5225225 . . . 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369031878 . . . . . . ID\x3dCOSM1425335\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369031878 rs369031878 1 1538 10 1.I 0,12,28 +rs796456113 3 75787351 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787351 75787351 Chr3(GRCh37):g.75787351C>A -80 -80 NR_036235.1:n.-80C>A p.? p.? 1 rs796456113 no no 0 C 0.000000 0 transversion C A C>A 1.000 2.627 201 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1423T:p.G475W . . . 0.2072072 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.664 . @ . . . . . 1 0.402 . . 111.0 . . . . . . . . . . 0.0682 -0.230 0.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.198 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.127 . . 0.035 . . . 0.939 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.957 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.231 . 0.513 . HET 0 . . . . . . . . . . . . . VI.18 . . 2.V I.15 . 0.010000 C9JSV9 . . . . . 0.293 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.477 0.477000 . . 0.010000 . . 1.0E-201 0.912 0.315 . 0.297 0.947 . 0.571 . 0.286 0.477 0.542 . . . . . 1 1538 10 1/0 0,233,255 +rs796456113 3 75787351 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787351 75787351 Chr3(GRCh37):g.75787351C>A 1423 1423 NM_001128223.2:c.1423G>T p.Gly475Trp p.Gly475Trp 5 1146 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs796456113 no no 0 C 0.000000 0 transversion G T G>T 1.000 2.627 G Gly GGG 0.250 W Trp TGG 1.000 475 10 2 Opossum -2 -2 -6 0.74 0.13 9 5.IV 3 170 184 C0 353.86 0.00 Deleterious 0 IV.32 201 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1423T:p.G475W . . . 0.2072072 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.664 . @ . . . . . 1 0.402 . . 111.0 . . . . . . . . . . 0.0682 -0.230 0.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.198 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.127 . . 0.035 . . . 0.939 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.957 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.231 . 0.513 . HET 0 . . . . . . . . . . . . . VI.18 . . 2.V I.15 . 0.010000 C9JSV9 . . . . . 0.293 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.477 0.477000 . . 0.010000 . . 1.0E-201 0.912 0.315 . 0.297 0.947 . 0.571 . 0.286 0.477 0.542 . . . . . 1 1538 10 1/0 0,233,255 +rs77480607 3 75787352 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787352 75787352 Chr3(GRCh37):g.75787352T>A -79 -79 NR_036235.1:n.-79T>A p.? p.? 1 rs77480607 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62734 4158 9606 2992 4804 7674 26058 5898 1544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 61 Exomes transversion T A T>A 1.000 0.044 216 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1422T:p.T474T . . . 0.20183486 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.1814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs77480607 rs77480607 1 1538 10 1/0 0,232,255 +rs77480607 3 75787352 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787352 75787352 Chr3(GRCh37):g.75787352T>A 1422 1422 NM_001128223.2:c.1422A>T p.Thr474= p.Thr474Thr 5 1145 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs77480607 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62734 4158 9606 2992 4804 7674 26058 5898 1544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 61 Exomes transversion A T A>T 1.000 0.044 T Thr ACA 0.280 T Thr ACT 0.243 474 216 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1422T:p.T474T . . . 0.20183486 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.1814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs77480607 rs77480607 1 1538 10 1/0 0,232,255 +. 3 75787352 T TA - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 insertion upstream GRCh37 75787352 75787353 Chr3(GRCh37):g.75787352_75787353insA -79 -78 NR_036235.1:n.-79_-78insA p.? p.? 1 rs372937014 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1421_1422insT:p.T474fs . . . 0.3090909 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372937014 . . . . . . ID\x3dCOSM1425336\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +. 3 75787352 T TA - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 insertion frameshift exon GRCh37 75787352 75787353 Chr3(GRCh37):g.75787352_75787353insA 1421 1422 NM_001128223.2:c.1421_1422insT p.Gly475Argfs*6 p.Gly475Argfs*6 5 1144 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs372937014 no no 0 0.000000 0 T 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1421_1422insT:p.T474fs . . . 0.3090909 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372937014 . . . . . . ID\x3dCOSM1425336\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +rs79406015 3 75787353 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787353 75787353 Chr3(GRCh37):g.75787353G>A -78 -78 NR_036235.1:n.-78G>A p.? p.? 1 rs79406015 no no 0 G 0.000000 0 transition G A G>A 1.000 1.658 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1421T:p.T474I . . . 0.5229358 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.513 . @ . . . . . 1 0.705 . . 109.0 . . . . . . . . . . -0.3804 -0.550 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.136 @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.056 0.003 . . 37 . 0.214 . . 0.166 . . . 0.502 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.432 . . 0.394 . . . . . . 1 0.784 . . . . . 0.181 . 0.439 . HET 0 rs141733687 . . . . . . . . . . . . V.39 . . 2.0 0.0554 . 0.020000 C9JSV9 . . . . . 0.222 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.033 0.033000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.297 0.922 . 0.586 . 0.290 0.033 0.562 . . . rs79406015 rs141733687 1 1538 10 1/0 0,255,255 +rs79406015 3 75787353 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787353 75787353 Chr3(GRCh37):g.75787353G>A 1421 1421 NM_001128223.2:c.1421C>T p.Thr474Ile p.Thr474Ile 5 1144 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs79406015 no no 0 G 0.000000 0 transition C T C>T 1.000 1.658 T Thr ACA 0.280 I Ile ATA 0.163 474 10 2 Opossum -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1421T:p.T474I . . . 0.5229358 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.513 . @ . . . . . 1 0.705 . . 109.0 . . . . . . . . . . -0.3804 -0.550 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.136 @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.056 0.003 . . 37 . 0.214 . . 0.166 . . . 0.502 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.432 . . 0.394 . . . . . . 1 0.784 . . . . . 0.181 . 0.439 . HET 0 rs141733687 . . . . . . . . . . . . V.39 . . 2.0 0.0554 . 0.020000 C9JSV9 . . . . . 0.222 . . . . . . . . . . . . . . . . . . . . . . 0.090 . 0.033 0.033000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.297 0.922 . 0.586 . 0.290 0.033 0.562 . . . rs79406015 rs141733687 1 1538 10 1/0 0,255,255 +rs73843014 3 75787405 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787405 75787405 Chr3(GRCh37):g.75787405C>T -26 -26 NR_036235.1:n.-26C>T p.? p.? 1 rs73843014 no no 0 C 0.000000 0 transition C T C>T 1.000 1.093 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1369A:p.G457R . . . 0.5810811 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.531 . @ . . . . . 1 0.366 . . 148.0 . . . . . . . . . . -0.3176 -0.559 -0.318 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.015 . . exonic exonic exonic . . 0.098 @ . . . 0.23 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.047 . . 0.286 . . . 0.592 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.906 . . 0 0 0 0 0 0 . 0.541 . . 0.519 . . . . . . 1 0.481 . . . . . 0.191 . 0.363 . HET 0.06 rs73843014 0.359 0.355 . . . . . . . . . . 6.0885 . . 2.VII -0.948 . 0.010000 C9JSV9 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.228 -0.228000 . . 0.010000 . . 1.0E-255 0.239 0.245 . 0.062 0.926 . 0.436 . 0.028 -0.228 0.542 0.36 . rs73843014 rs73843014 rs141106119 1 1538 10 1/0 0,248,255 +rs73843014 3 75787405 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787405 75787405 Chr3(GRCh37):g.75787405C>T 1369 1369 NM_001128223.2:c.1369G>A p.Gly457Arg p.Gly457Arg 5 1092 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs73843014 no no 0 C 0.000000 0 transition G A G>A 1.000 1.093 G Gly GGA 0.246 R Arg AGA 0.205 457 10 2 Opossum -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1369A:p.G457R . . . 0.5810811 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.531 . @ . . . . . 1 0.366 . . 148.0 . . . . . . . . . . -0.3176 -0.559 -0.318 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.015 . . exonic exonic exonic . . 0.098 @ . . . 0.23 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.047 . . 0.286 . . . 0.592 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.906 . . 0 0 0 0 0 0 . 0.541 . . 0.519 . . . . . . 1 0.481 . . . . . 0.191 . 0.363 . HET 0.06 rs73843014 0.359 0.355 . . . . . . . . . . 6.0885 . . 2.VII -0.948 . 0.010000 C9JSV9 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.228 -0.228000 . . 0.010000 . . 1.0E-255 0.239 0.245 . 0.062 0.926 . 0.436 . 0.028 -0.228 0.542 0.36 . rs73843014 rs73843014 rs141106119 1 1538 10 1/0 0,248,255 +rs10442977 3 75787416 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787416 75787416 Chr3(GRCh37):g.75787416C>T -15 -15 NR_036235.1:n.-15C>T p.? p.? 1 rs10442977 no no 0 C 0.000000 0 0.000018 0.000290 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000290 1 1 0 0 0 0 0 0 0 56834 3446 9058 2738 4262 7364 23032 5548 1386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition C T C>T 0.583 4.160 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1358A:p.C453Y . . . 0.375 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.586 . @ . . . . . 1 0.276 . . 152.0 . . . . . . . . . . 0.3475 0.062 0.347 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.259 @ . . . 0.26 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.184 0.007 . . 37 . 0.928 . . 0.842 . . . 0.913 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.992 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 1 0.912 . . . . . 0.429 . 0.435 . HET 0 rs10442977 0.250 0.210 . . . . . . . . . . X.94 . . 2.VII 2.VII . 0.000000 C9JSV9 . . . . . 0.270 . . 2.VII 0.0003 1.76e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . 1.540 1.540000 . . 0.000000 . . 1.0E-255 0.989 0.365 . 0.043 0.954 . 0.678 . 0.033 1.540 0.542 0.25 rs10442977 rs10442977 rs10442977 rs10442977 1 1538 10 1/0 0,233,255 +rs10442977 3 75787416 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787416 75787416 Chr3(GRCh37):g.75787416C>T 1358 1358 NM_001128223.2:c.1358G>A p.Cys453Tyr p.Cys453Tyr 5 1081 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs10442977 no no 0 C 0.000000 0 0.000018 0.000290 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000290 1 1 0 0 0 0 0 0 0 56834 3446 9058 2738 4262 7364 23032 5548 1386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition G A G>A 0.583 4.160 C Cys TGT 0.448 Y Tyr TAT 0.438 453 10 2 Opossum -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1358A:p.C453Y . . . 0.375 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.586 . @ . . . . . 1 0.276 . . 152.0 . . . . . . . . . . 0.3475 0.062 0.347 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.259 @ . . . 0.26 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.184 0.007 . . 37 . 0.928 . . 0.842 . . . 0.913 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.992 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 1 0.912 . . . . . 0.429 . 0.435 . HET 0 rs10442977 0.250 0.210 . . . . . . . . . . X.94 . . 2.VII 2.VII . 0.000000 C9JSV9 . . . . . 0.270 . . 2.VII 0.0003 1.76e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . 1.540 1.540000 . . 0.000000 . . 1.0E-255 0.989 0.365 . 0.043 0.954 . 0.678 . 0.033 1.540 0.542 0.25 rs10442977 rs10442977 rs10442977 rs10442977 1 1538 10 1/0 0,233,255 +rs76082496 3 75787427 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution upstream GRCh37 75787427 75787427 Chr3(GRCh37):g.75787427T>C -4 -4 NR_036235.1:n.-4T>C p.? p.? 1 rs76082496 no no 0 T 0.000000 0 transition T C T>C 0.906 0.125 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1347G:p.K449K . . . 0.6118421 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 152.0 . . . . . . . . . . 0.0947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76082496 0.359 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.36 . . rs76082496 rs199721002 1 1538 10 1/0 0,248,253 +rs76082496 3 75787427 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787427 75787427 Chr3(GRCh37):g.75787427T>C 1347 1347 NM_001128223.2:c.1347A>G p.Lys449= p.Lys449Lys 5 1070 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs76082496 no no 0 T 0.000000 0 transition A G A>G 0.906 0.125 K Lys AAA 0.425 K Lys AAG 0.575 449 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1347G:p.K449K . . . 0.6118421 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 152.0 . . . . . . . . . . 0.0947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76082496 0.359 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.36 . . rs76082496 rs199721002 1 1538 10 1/0 0,248,253 +. 3 75787458 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution exon GRCh37 75787458 75787458 Chr3(GRCh37):g.75787458G>A 28 28 NR_036235.1:n.28G>A 1 transition G A G>A 0.000 -0.198 199 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1316T:p.T439I . . . 0.15662651 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.121 . @ . . . . . 1 0.031 . . 166.0 . . . . . . . . . . -1.2007 -1.376 -1.201 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.101 @ . . . 0.31 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.052 . . 0.373 . . . 0.211 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.401 . . 0.400 . . . . . . 1 0.010 . . . . . 0.132 . 0.407 . HET 0.57 rs199620349 0.043 0.029 . . . . . . . . . . IV.36 . . I.53 -0.861 . 0.640000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.203 -0.203000 . . 0.640000 . . 1.0E-199 0.000 0.063 . 0.043 0.149 . 0.034 . 0.290 -0.203 -0.219 0.043 rs6686263 rs6686263 rs76333414 rs199620349 1 1538 10 1/0 0,209,255 +. 3 75787458 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787458 75787458 Chr3(GRCh37):g.75787458G>A 1316 1316 NM_001128223.2:c.1316C>T p.Thr439Ile p.Thr439Ile 5 1039 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787447 3.28709 0.03359 80.6648 3.78645 0.064764 84.7667 Zinc finger, C2H2 Zinc finger, C2H2-like transition C T C>T 0.000 -0.198 T Thr ACT 0.243 I Ile ATT 0.356 439 10 2 Opossum -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0 IV.32 199 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1316T:p.T439I . . . 0.15662651 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.121 . @ . . . . . 1 0.031 . . 166.0 . . . . . . . . . . -1.2007 -1.376 -1.201 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.101 @ . . . 0.31 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.052 . . 0.373 . . . 0.211 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.401 . . 0.400 . . . . . . 1 0.010 . . . . . 0.132 . 0.407 . HET 0.57 rs199620349 0.043 0.029 . . . . . . . . . . IV.36 . . I.53 -0.861 . 0.640000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.203 -0.203000 . . 0.640000 . . 1.0E-199 0.000 0.063 . 0.043 0.149 . 0.034 . 0.290 -0.203 -0.219 0.043 rs6686263 rs6686263 rs76333414 rs199620349 1 1538 10 1/0 0,209,255 +rs74861398 3 75787464 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution exon GRCh37 75787464 75787464 Chr3(GRCh37):g.75787464C>T 34 34 NR_036235.1:n.34C>T 1 rs74861398 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30652 2514 5484 920 2898 3172 12318 2544 802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 76 Exomes transition C T C>T 0.000 0.044 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1310A:p.R437K . . . 0.6455696 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.087 . @ . . . . . 1 0.033 . . 158.0 . . . . . . . . . . -1.8271 -1.901 -1.827 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.071 . . exonic exonic exonic . . 0.048 @ . . . 0.24 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.032 . . 0.434 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.200 . . 0.246 . . . . . . 1 0.027 . . . . . 0.076 . 0.296 . HET 0.87 rs74861398 0.370 0.370 . . . . . . . . . . III.52 . . 1.VI -3.2 . 0.930000 C9JSV9 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . -0.943 -0.943000 . . 0.930000 . . 1.0E-255 0.000 0.063 . 0.016 0.158 . 0.007 . 0.004 -0.943 -0.632 0.37 . . rs74861398 rs147751121 1 1538 10 1/0 0,245,247 +rs74861398 3 75787464 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787464 75787464 Chr3(GRCh37):g.75787464C>T 1310 1310 NM_001128223.2:c.1310G>A p.Arg437Lys p.Arg437Lys 5 1033 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs74861398 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30652 2514 5484 920 2898 3172 12318 2544 802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 76 Exomes transition G A G>A 0.000 0.044 R Arg AGG 0.207 K Lys AAG 0.575 437 10 2 Opossum 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1310A:p.R437K . . . 0.6455696 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.087 . @ . . . . . 1 0.033 . . 158.0 . . . . . . . . . . -1.8271 -1.901 -1.827 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.071 . . exonic exonic exonic . . 0.048 @ . . . 0.24 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.032 . . 0.434 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.200 . . 0.246 . . . . . . 1 0.027 . . . . . 0.076 . 0.296 . HET 0.87 rs74861398 0.370 0.370 . . . . . . . . . . III.52 . . 1.VI -3.2 . 0.930000 C9JSV9 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.310 . -0.943 -0.943000 . . 0.930000 . . 1.0E-255 0.000 0.063 . 0.016 0.158 . 0.007 . 0.004 -0.943 -0.632 0.37 . . rs74861398 rs147751121 1 1538 10 1/0 0,245,247 +rs113228636 3 75787476 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution exon GRCh37 75787476 75787476 Chr3(GRCh37):g.75787476C>T 46 46 NR_036235.1:n.46C>T 1 rs113228636 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -1.328 229 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1298A:p.S433N . . . 0.2392638 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.059 . . 163.0 . . . . . . . . . . -1.2802 -1.546 -1.280 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.044 @ . . . 0.19 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.082 . . 0.088 . . . 0.233 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.381 . . 0 0 0 0 0 0 . 0.461 . . 0.438 . . . . . . 1 0.203 . . . . . 0.167 . 0.312 . HET 0.13 rs113228636 0.076 0.094 . . . . . . . . . . V.92 . . I.75 -3.49 . 0.260000 C9JSV9 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -1.573 -1.573000 . . 0.260000 . . 1.0E-229 0.000 0.063 . 0.016 0.344 . 0.004 . 0.028 -1.573 0.542 0.076 rs6671931 rs6671931 rs113228636 rs113228636 1 1538 10 1/0 0,218,255 +rs113228636 3 75787476 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787476 75787476 Chr3(GRCh37):g.75787476C>T 1298 1298 NM_001128223.2:c.1298G>A p.Ser433Asn p.Ser433Asn 5 1021 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs113228636 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 -1.328 S Ser AGC 0.243 N Asn AAC 0.536 433 10 1 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.21 IV.32 229 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1298A:p.S433N . . . 0.2392638 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.059 . . 163.0 . . . . . . . . . . -1.2802 -1.546 -1.280 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.044 @ . . . 0.19 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.082 . . 0.088 . . . 0.233 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.381 . . 0 0 0 0 0 0 . 0.461 . . 0.438 . . . . . . 1 0.203 . . . . . 0.167 . 0.312 . HET 0.13 rs113228636 0.076 0.094 . . . . . . . . . . V.92 . . I.75 -3.49 . 0.260000 C9JSV9 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -1.573 -1.573000 . . 0.260000 . . 1.0E-229 0.000 0.063 . 0.016 0.344 . 0.004 . 0.028 -1.573 0.542 0.076 rs6671931 rs6671931 rs113228636 rs113228636 1 1538 10 1/0 0,218,255 +rs79870536 3 75787516 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787516 75787516 Chr3(GRCh37):g.75787516C>G *2 *2 NR_036235.1:n.*2C>G p.? p.? 1 rs79870536 no no 0 C 0.000000 0 transversion C G C>G 0.921 2.546 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1258C:p.E420Q . . . 0.625 . . @ 95 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.468 . @ . . . . . 1 0.371 . . 152.0 . . . . . . . . . . -0.3530 -0.540 -0.353 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.258 . . exonic exonic exonic . . 0.186 @ . . . 0.24 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.081 0.003 . . 37 . 0.282 . . 0.136 . . . 0.627 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.525 . . 0.495 . . . . . . 2 0.491 . . . . . 0.305 . 0.515 . HET 0.13 rs79870536 0.359 0.355 . . . . . . . . . . VIII.81 . . I.87 0.939 . 0.010000 C9JSV9 . . . . . 0.255 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.377 0.377000 . . 0.010000 . . 1.0E-255 0.997 0.399 . 0.043 0.414 . 0.569 . 0.105 0.377 0.542 0.36 . . rs79870536 rs200086689 1 1538 10 1/0 0,244,246 +rs79870536 3 75787516 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787516 75787516 Chr3(GRCh37):g.75787516C>G 1258 1258 NM_001128223.2:c.1258G>C p.Glu420Gln p.Glu420Gln 5 981 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs79870536 no no 0 C 0.000000 0 transversion G C G>C 0.921 2.546 E Glu GAA 0.417 Q Gln CAA 0.256 420 10 2 Opossum 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1258C:p.E420Q . . . 0.625 . . @ 95 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.468 . @ . . . . . 1 0.371 . . 152.0 . . . . . . . . . . -0.3530 -0.540 -0.353 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.258 . . exonic exonic exonic . . 0.186 @ . . . 0.24 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.081 0.003 . . 37 . 0.282 . . 0.136 . . . 0.627 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.525 . . 0.495 . . . . . . 2 0.491 . . . . . 0.305 . 0.515 . HET 0.13 rs79870536 0.359 0.355 . . . . . . . . . . VIII.81 . . I.87 0.939 . 0.010000 C9JSV9 . . . . . 0.255 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.377 0.377000 . . 0.010000 . . 1.0E-255 0.997 0.399 . 0.043 0.414 . 0.569 . 0.105 0.377 0.542 0.36 . . rs79870536 rs200086689 1 1538 10 1/0 0,244,246 +. 3 75787519 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787519 75787519 Chr3(GRCh37):g.75787519C>A *5 *5 NR_036235.1:n.*5C>A p.? p.? 1 rs796962069 no no 0 0.000000 0 transversion C A C>A 0.669 1.658 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1255T:p.G419W . . . 0.615894 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.654 . @ . . . . . 1 0.421 . . 151.0 . . . . . . . . . . -0.0448 -0.423 -0.045 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.187 @ . . . 0.25 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.142 0.005 . . 37 . 0.142 . . 0.037 . . . 0.924 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.949 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 2 0.912 . . . . . 0.219 . 0.511 . HET 0 rs200805142 . . . . . . . . . . . . VI.86 . . I.87 0.967 . 0.000000 C9JSV9 . . . . . 0.130 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.392 0.392000 . . 0.000000 . . 1.0E-255 0.021 0.196 . 0.043 0.393 . 0.425 . 0.287 0.392 0.542 . . . rs76144260 rs200805142 1 1538 10 1/0 0,245,249 +. 3 75787519 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787519 75787519 Chr3(GRCh37):g.75787519C>A 1255 1255 NM_001128223.2:c.1255G>T p.Gly419Trp p.Gly419Trp 5 978 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs796962069 no no 0 0.000000 0 transversion G T G>T 0.669 1.658 G Gly GGG 0.250 W Trp TGG 1.000 419 10 2 Opossum -2 -2 -6 0.74 0.13 9 5.IV 3 170 184 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1255T:p.G419W . . . 0.615894 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.654 . @ . . . . . 1 0.421 . . 151.0 . . . . . . . . . . -0.0448 -0.423 -0.045 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.187 @ . . . 0.25 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.142 0.005 . . 37 . 0.142 . . 0.037 . . . 0.924 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.949 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 2 0.912 . . . . . 0.219 . 0.511 . HET 0 rs200805142 . . . . . . . . . . . . VI.86 . . I.87 0.967 . 0.000000 C9JSV9 . . . . . 0.130 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.392 0.392000 . . 0.000000 . . 1.0E-255 0.021 0.196 . 0.043 0.393 . 0.425 . 0.287 0.392 0.542 . . . rs76144260 rs200805142 1 1538 10 1/0 0,245,249 +rs28632074 3 75787637 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787637 75787637 Chr3(GRCh37):g.75787637C>T *123 *123 NR_036235.1:n.*123C>T p.? p.? 1 rs28632074 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.360 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1137A:p.K379K . . . 0.7352941 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs145802847 0.261 0.232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs28632074 rs28632074 rs28632074 rs145802847 1 1538 10 1/0 0,252,250 +rs28632074 3 75787637 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787637 75787637 Chr3(GRCh37):g.75787637C>T 1137 1137 NM_001128223.2:c.1137G>A p.Lys379= p.Lys379Lys 5 860 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs28632074 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 -0.360 K Lys AAG 0.575 K Lys AAA 0.425 379 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1137A:p.K379K . . . 0.7352941 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs145802847 0.261 0.232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs28632074 rs28632074 rs28632074 rs145802847 1 1538 10 1/0 0,252,250 +. 3 75787645 GAA G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 deletion downstream GRCh37 75787648 75787649 Chr3(GRCh37):g.75787648_75787649del *134 *135 NR_036235.1:n.*134_*135del p.? p.? 1 rs67579270 no no 0 0.000000 0 AA 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1127_1128del:p.F376fs . . . 0.73015875 . . . 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141065192 0.239 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 . rs67579270 rs67579270 rs141065192 1 1538 10 1.I 0,10,14 +. 3 75787645 GAA G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 deletion frameshift exon GRCh37 75787646 75787647 Chr3(GRCh37):g.75787646_75787647del 1127 1128 NM_001128223.2:c.1127_1128del p.Phe376Serfs*3 p.Phe376Serfs*3 5 850 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs67579270 no no 0 0.000000 0 TT 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.1127_1128del:p.F376fs . . . 0.73015875 . . . 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141065192 0.239 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 . rs67579270 rs67579270 rs141065192 1 1538 10 1.I 0,10,14 +rs74620322 3 75787679 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787679 75787679 Chr3(GRCh37):g.75787679T>C *165 *165 NR_036235.1:n.*165T>C p.? p.? 1 rs74620322 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.992 0.286 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1095G:p.K365K . . . 0.68907565 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.0876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs74620322 0.424 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs74620322 rs74620322 1 1538 10 1/0 0,255,255 +rs74620322 3 75787679 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787679 75787679 Chr3(GRCh37):g.75787679T>C 1095 1095 NM_001128223.2:c.1095A>G p.Lys365= p.Lys365Lys 5 818 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs74620322 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.992 0.286 K Lys AAA 0.425 K Lys AAG 0.575 365 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1095G:p.K365K . . . 0.68907565 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.0876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs74620322 0.424 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs74620322 rs74620322 1 1538 10 1/0 0,255,255 +rs77688099 3 75787688 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787688 75787688 Chr3(GRCh37):g.75787688T>A *174 *174 NR_036235.1:n.*174T>A p.? p.? 1 rs77688099 yes no Frequency 1 T 0.000000 0 transversion T A T>A 0.984 0.044 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1086T:p.T362T . . . 0.70731705 . . @ 87 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . -0.0559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs77688099 0.424 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs77688099 rs113301073 1 1538 10 1/0 0,255,255 +rs77688099 3 75787688 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787688 75787688 Chr3(GRCh37):g.75787688T>A 1086 1086 NM_001128223.2:c.1086A>T p.Thr362= p.Thr362Thr 5 809 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs77688099 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.984 0.044 T Thr ACA 0.280 T Thr ACT 0.243 362 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A1086T:p.T362T . . . 0.70731705 . . @ 87 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . -0.0559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs77688099 0.424 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs77688099 rs113301073 1 1538 10 1/0 0,255,255 +rs370446336 3 75787712 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787712 75787712 Chr3(GRCh37):g.75787712G>A *198 *198 NR_036235.1:n.*198G>A p.? p.? 1 rs370446336 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.521 209 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1062T:p.L354L . . . 0.18354431 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 158.0 . . . . . . . . . . -0.2691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs370446336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs1686398 rs1686398 rs370446336 rs370446336 1 1538 10 1/0 0,214,255 +rs370446336 3 75787712 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787712 75787712 Chr3(GRCh37):g.75787712G>A 1062 1062 NM_001128223.2:c.1062C>T p.Leu354= p.Leu354Leu 5 785 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs370446336 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.521 L Leu CTC 0.197 L Leu CTT 0.129 354 209 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1062T:p.L354L . . . 0.18354431 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 158.0 . . . . . . . . . . -0.2691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs370446336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs1686398 rs1686398 rs370446336 rs370446336 1 1538 10 1/0 0,214,255 +rs186706183 3 75787725 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787725 75787725 Chr3(GRCh37):g.75787725C>T *211 *211 NR_036235.1:n.*211C>T p.? p.? 1 rs186706183 yes no Frequency/1000G 2 C 0.000000 0 0.001051 0.010533 0.000673 0.000384 0.000000 0.000000 0.000000 0.000000 0.000000 0.010533 57 51 5 1 0 0 0 0 0 54248 4842 7432 2604 2474 6350 22568 6750 1228 0.000295 0.003304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 8 0 0 0 0 0 0 0 41 35 5 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 218 PASS 0.04 0.01 0.0028 . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1049A:p.R350H . . . 0.20779221 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.141 . @ . . . . . 1 0.087 . . 154.0 . . . . . . . . . . -1.1160 -1.340 -1.116 c . . . . . 4.396e-03 . . . 0.0629 0.0066 0 0 0 0 0 0 0.0492 0.0048 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.156 . . exonic exonic exonic . . 0.060 @ . . . 0.28 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.018 . . 0.307 . . . 0.311 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.554 . . 0.404 . . . . . . 2 0.071 . . . . . 0.198 . 0.336 . HET 0.6 rs186706183 0.011 0.007 . . . . . 0.009157509157509158 0.03861788617886179 0.0027624309392265192 0.0 0.0 VI.81 0.089362 . I.58 -2.49 . 0.450000 C9JSV9 . . . . . 0.013 . . . 0.0190 0.0011 0.0007 0 0 0 0 0 0 0.0017 0.0006 0 0.0106 0 0 0 0 . . 0.553 . -0.610 -0.610000 . . 0.450000 . . 1.0E-218 0.000 0.063 . 0.016 0.032 . 0.007 . 0.015 -0.610 -0.269 0.04 . . rs186706183 rs186706183 1 1538 10 1/0 0,217,255 +rs186706183 3 75787725 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787725 75787725 Chr3(GRCh37):g.75787725C>T 1049 1049 NM_001128223.2:c.1049G>A p.Arg350His p.Arg350His 5 772 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs186706183 yes no Frequency/1000G 2 C 0.000000 0 0.001051 0.010533 0.000673 0.000384 0.000000 0.000000 0.000000 0.000000 0.000000 0.010533 57 51 5 1 0 0 0 0 0 54248 4842 7432 2604 2474 6350 22568 6750 1228 0.000295 0.003304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 8 0 0 0 0 0 0 0 41 35 5 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 R Arg CGT 0.082 H His CAT 0.413 350 10 3 Northern white-cheeked gibbon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 242.09 0.00 Tolerated 0.2 III.91 218 PASS 0.04 0.01 0.0028 . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1049A:p.R350H . . . 0.20779221 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.141 . @ . . . . . 1 0.087 . . 154.0 . . . . . . . . . . -1.1160 -1.340 -1.116 c . . . . . 4.396e-03 . . . 0.0629 0.0066 0 0 0 0 0 0 0.0492 0.0048 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.156 . . exonic exonic exonic . . 0.060 @ . . . 0.28 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.018 . . 0.307 . . . 0.311 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.554 . . 0.404 . . . . . . 2 0.071 . . . . . 0.198 . 0.336 . HET 0.6 rs186706183 0.011 0.007 . . . . . 0.009157509157509158 0.03861788617886179 0.0027624309392265192 0.0 0.0 VI.81 0.089362 . I.58 -2.49 . 0.450000 C9JSV9 . . . . . 0.013 . . . 0.0190 0.0011 0.0007 0 0 0 0 0 0 0.0017 0.0006 0 0.0106 0 0 0 0 . . 0.553 . -0.610 -0.610000 . . 0.450000 . . 1.0E-218 0.000 0.063 . 0.016 0.032 . 0.007 . 0.015 -0.610 -0.269 0.04 . . rs186706183 rs186706183 1 1538 10 1/0 0,217,255 +rs1962893 3 75787726 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787726 75787726 Chr3(GRCh37):g.75787726G>A *212 *212 NR_036235.1:n.*212G>A p.? p.? 1 rs1962893 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.000022 0.000000 0.000000 0.000000 0.000000 0.000159 0.000000 0.000000 0.000000 0.000159 1 0 0 0 0 1 0 0 0 45132 2504 7102 2500 2144 6308 18126 5484 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 82 Exomes transition G A G>A 0.000 1.174 255 PASS 0.09 0.1 0.1 0.1 0.1 . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1048T:p.R350C . . . 0.6708861 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.227 . . 158.0 . . . . . . . . . . -0.3897 -0.651 -0.390 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.224 @ . . . 0.38 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.006 . . 0.097 . . . 0.458 0.189 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.689 . . 0.519 . . . . . . 2 0.208 . . . . . 0.147 . 0.484 . HET 0.2 rs1962893 0.772 0.783 . . . . . 0.09661172161172162 0.08739837398373984 0.09944751381215469 0.10139860139860139 0.09762532981530343 V.61 . . I.58 I.58 . 0.180000 C9JSV9 . . . . . 0.078 . . . 0 2.216e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.553 . 1.248 1.248000 . . 0.180000 . . 1.0E-255 0.000 0.063 . 0.016 0.041 . 0.003 . 0.067 1.248 0.562 0.77 rs1962893 rs1962893 rs1962893 rs143705658 1 1538 10 1/0 0,248,250 +rs1962893 3 75787726 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787726 75787726 Chr3(GRCh37):g.75787726G>A 1048 1048 NM_001128223.2:c.1048C>T p.Arg350Cys p.Arg350Cys 5 771 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs1962893 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.000022 0.000000 0.000000 0.000000 0.000000 0.000159 0.000000 0.000000 0.000000 0.000159 1 0 0 0 0 1 0 0 0 45132 2504 7102 2500 2144 6308 18126 5484 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 82 Exomes transition C T C>T 0.000 1.174 R Arg CGT 0.082 C Cys TGT 0.448 350 10 3 Northern white-cheeked gibbon -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 242.09 79.30 Deleterious 0.01 III.91 255 PASS 0.09 0.1 0.1 0.1 0.1 . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1048T:p.R350C . . . 0.6708861 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.227 . . 158.0 . . . . . . . . . . -0.3897 -0.651 -0.390 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.224 @ . . . 0.38 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.006 . . 0.097 . . . 0.458 0.189 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.555 . . 0 0 0 0 0 0 . 0.689 . . 0.519 . . . . . . 2 0.208 . . . . . 0.147 . 0.484 . HET 0.2 rs1962893 0.772 0.783 . . . . . 0.09661172161172162 0.08739837398373984 0.09944751381215469 0.10139860139860139 0.09762532981530343 V.61 . . I.58 I.58 . 0.180000 C9JSV9 . . . . . 0.078 . . . 0 2.216e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.553 . 1.248 1.248000 . . 0.180000 . . 1.0E-255 0.000 0.063 . 0.016 0.041 . 0.003 . 0.067 1.248 0.562 0.77 rs1962893 rs1962893 rs1962893 rs143705658 1 1538 10 1/0 0,248,250 +rs373583704 3 75787729 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787729 75787729 Chr3(GRCh37):g.75787729G>A *215 *215 NR_036235.1:n.*215G>A p.? p.? 1 rs373583704 no no 0 G 0.000000 0 0.000023 0.000000 0.000000 0.000000 0.000000 0.000162 0.000000 0.000000 0.000000 0.000162 1 0 0 0 0 1 0 0 0 43940 2416 6872 2472 2044 6162 17626 5414 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transition G A G>A 0.000 -0.602 216 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1045T:p.R349C . . . 0.20245399 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.159 . @ . . . . . 1 0.096 . . 163.0 . . . . . . . . . . -1.2688 -1.416 -1.269 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.127 . . 0.328 . . . 0.291 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.156 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 2 0.403 . . . . . 0.047 . 0.447 . HET 0.11 rs373583704 0.011 0.007 . . . . . . . . . . II.24 . . I.58 -2.38 . 0.090000 C9JSV9 . . . . . 0.037 . . . 0 2.276e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.553 . -0.622 -0.622000 . . 0.090000 . . 1.0E-216 0.000 0.063 . 0.016 0.087 . 0.073 . 0.004 -0.622 -0.617 0.011 . . rs373583704 rs373583704 1 1538 10 1/0 0,214,255 +rs373583704 3 75787729 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787729 75787729 Chr3(GRCh37):g.75787729G>A 1045 1045 NM_001128223.2:c.1045C>T p.Arg349Cys p.Arg349Cys 5 768 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs373583704 no no 0 G 0.000000 0 0.000023 0.000000 0.000000 0.000000 0.000000 0.000162 0.000000 0.000000 0.000000 0.000162 1 0 0 0 0 1 0 0 0 43940 2416 6872 2472 2044 6162 17626 5414 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transition C T C>T 0.000 -0.602 R Arg CGC 0.190 C Cys TGC 0.552 349 10 2 Northern white-cheeked gibbon -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 262.28 0.00 Tolerated 0.16 III.91 216 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C1045T:p.R349C . . . 0.20245399 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.159 . @ . . . . . 1 0.096 . . 163.0 . . . . . . . . . . -1.2688 -1.416 -1.269 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.127 . . 0.328 . . . 0.291 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.156 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 2 0.403 . . . . . 0.047 . 0.447 . HET 0.11 rs373583704 0.011 0.007 . . . . . . . . . . II.24 . . I.58 -2.38 . 0.090000 C9JSV9 . . . . . 0.037 . . . 0 2.276e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . 0.553 . -0.622 -0.622000 . . 0.090000 . . 1.0E-216 0.000 0.063 . 0.016 0.087 . 0.073 . 0.004 -0.622 -0.617 0.011 . . rs373583704 rs373583704 1 1538 10 1/0 0,214,255 +rs74776730 3 75787732 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787732 75787732 Chr3(GRCh37):g.75787732A>C *218 *218 NR_036235.1:n.*218A>C p.? p.? 1 rs74776730 yes no Frequency 1 A 0.000000 0 transversion A C A>C 0.339 3.192 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1042G:p.F348V . . . 0.497006 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.325 . @ . . . . . 1 0.156 . . 167.0 . . . . . . . . . . 0.1980 -0.099 0.198 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . 0.224 @ . . . 0.31 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.099 0.004 . . 37 . 0.646 . . 0.534 . . . 0.908 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.919 . . 0 0 0 0 0 0 . 0.571 . . 0.616 . . . . . . 2 0.912 . . . . . 0.254 . 0.448 . HET 0 rs74776730 0.261 0.239 . . . . . . . . . . VII.31 . . I.58 I.58 . 0.000000 C9JSV9 . . . . . 0.300 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 1.025 1.025000 . . 0.000000 . . 1.0E-255 0.959 0.333 . 0.043 0.248 . 0.491 . 0.281 1.025 0.649 0.26 rs2209202 rs2209202 rs74776730 rs74776730 1 1538 10 1/0 0,237,255 +rs74776730 3 75787732 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787732 75787732 Chr3(GRCh37):g.75787732A>C 1042 1042 NM_001128223.2:c.1042T>G p.Phe348Val p.Phe348Val 5 765 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs74776730 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.339 3.192 F Phe TTT 0.454 V Val GTT 0.178 348 10 9 Opossum 0 -1 -2 0 0 5.II 5.IX 132 84 50 C0 245.62 XI.33 Deleterious 0 III.91 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T1042G:p.F348V . . . 0.497006 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.325 . @ . . . . . 1 0.156 . . 167.0 . . . . . . . . . . 0.1980 -0.099 0.198 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . 0.224 @ . . . 0.31 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.099 0.004 . . 37 . 0.646 . . 0.534 . . . 0.908 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.919 . . 0 0 0 0 0 0 . 0.571 . . 0.616 . . . . . . 2 0.912 . . . . . 0.254 . 0.448 . HET 0 rs74776730 0.261 0.239 . . . . . . . . . . VII.31 . . I.58 I.58 . 0.000000 C9JSV9 . . . . . 0.300 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 1.025 1.025000 . . 0.000000 . . 1.0E-255 0.959 0.333 . 0.043 0.248 . 0.491 . 0.281 1.025 0.649 0.26 rs2209202 rs2209202 rs74776730 rs74776730 1 1538 10 1/0 0,237,255 +rs74873974 3 75787770 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787770 75787770 Chr3(GRCh37):g.75787770C>T *256 *256 NR_036235.1:n.*256C>T p.? p.? 1 rs74873974 yes no Frequency 1 C 0.000000 0 transition C T C>T 1.000 2.465 188 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1004A:p.G335E . . . 0.12935324 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.629 . @ . . . . . 1 0.300 . . 201.0 . . . . . . . . . . -0.3490 -0.623 -0.349 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.181 @ . . . 0.22 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.098 0.004 . . 37 . 0.353 . . 0.144 . . . 0.311 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.912 . . 0 0 0 0 0 0 . 0.657 . . 0.715 . . . . . . 2 0.721 . . . . . 0.210 . 0.463 . LowAF 0.01 rs74873974 0.054 0.043 . . . . . . . . . . 6.458 . . I.78 0.859 . 0.050000 C9JSV9 . . . . . 0.132 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.332 0.332000 . . 0.050000 . . 1.0E-188 0.434 0.262 . 0.343 0.758 . 0.376 . 0.276 0.332 0.542 0.054 rs2209201 rs2209201 rs74873974 rs74873974 1 1538 10 1/0 0,199,255 +rs74873974 3 75787770 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787770 75787770 Chr3(GRCh37):g.75787770C>T 1004 1004 NM_001128223.2:c.1004G>A p.Gly335Glu p.Gly335Glu 5 727 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 rs74873974 yes no Frequency 1 C 0.000000 0 transition G A G>A 1.000 2.465 G Gly GGG 0.250 E Glu GAG 0.583 335 10 8 Opossum -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 109.55 54.82 Deleterious 0.02 III.91 188 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G1004A:p.G335E . . . 0.12935324 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.629 . @ . . . . . 1 0.300 . . 201.0 . . . . . . . . . . -0.3490 -0.623 -0.349 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.181 @ . . . 0.22 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.098 0.004 . . 37 . 0.353 . . 0.144 . . . 0.311 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.912 . . 0 0 0 0 0 0 . 0.657 . . 0.715 . . . . . . 2 0.721 . . . . . 0.210 . 0.463 . LowAF 0.01 rs74873974 0.054 0.043 . . . . . . . . . . 6.458 . . I.78 0.859 . 0.050000 C9JSV9 . . . . . 0.132 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.332 0.332000 . . 0.050000 . . 1.0E-188 0.434 0.262 . 0.343 0.758 . 0.376 . 0.276 0.332 0.542 0.054 rs2209201 rs2209201 rs74873974 rs74873974 1 1538 10 1/0 0,199,255 +rs200891949 3 75787801 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787801 75787801 Chr3(GRCh37):g.75787801T>C *287 *287 NR_036235.1:n.*287T>C p.? p.? 1 rs200891949 no no 0 T 0.000000 0 transition T C T>C 0.000 0.044 250 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A973G:p.S325G . . . 0.30555555 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.092 . . 216.0 . . . . . . . . . . -1.1047 -1.293 -1.105 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.054 @ . . . 0.24 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.116 . . 0.377 . . . 0.305 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.321 . . 0.371 . . . . . . 2 0.052 . . . . . 0.050 . 0.348 . HET 0.63 rs200891949 . . . . . . . . . . . . II.23 . . I.59 -2.8 . 0.470000 C9JSV9 . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.585 -0.585000 . . 0.470000 . . 1.0E-250 0.000 0.063 . 0.043 0.057 . 0.025 . 0.278 -0.585 -0.267 . . . rs200891949 rs200891949 1 1538 10 1/0 0,211,255 +rs200891949 3 75787801 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787801 75787801 Chr3(GRCh37):g.75787801T>C 973 973 NM_001128223.2:c.973A>G p.Ser325Gly p.Ser325Gly 5 696 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs200891949 no no 0 T 0.000000 0 transition A G A>G 0.000 0.044 S Ser AGC 0.243 G Gly GGC 0.342 325 10 4 White-tuffed-ear marmoset 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 216.75 0.00 Tolerated 0.53 III.91 250 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A973G:p.S325G . . . 0.30555555 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.092 . . 216.0 . . . . . . . . . . -1.1047 -1.293 -1.105 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.054 @ . . . 0.24 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.116 . . 0.377 . . . 0.305 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.321 . . 0.371 . . . . . . 2 0.052 . . . . . 0.050 . 0.348 . HET 0.63 rs200891949 . . . . . . . . . . . . II.23 . . I.59 -2.8 . 0.470000 C9JSV9 . . . . . 0.035 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.585 -0.585000 . . 0.470000 . . 1.0E-250 0.000 0.063 . 0.043 0.057 . 0.025 . 0.278 -0.585 -0.267 . . . rs200891949 rs200891949 1 1538 10 1/0 0,211,255 +rs201430954 3 75787802 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787802 75787802 Chr3(GRCh37):g.75787802G>A *288 *288 NR_036235.1:n.*288G>A p.? p.? 1 rs201430954 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.682 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C972T:p.S324S . . . 0.3287037 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . -0.2942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201430954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201430954 rs201430954 1 1538 10 1/0 0,213,255 +rs201430954 3 75787802 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787802 75787802 Chr3(GRCh37):g.75787802G>A 972 972 NM_001128223.2:c.972C>T p.Ser324= p.Ser324Ser 5 695 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs201430954 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.682 S Ser TCC 0.220 S Ser TCT 0.185 324 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C972T:p.S324S . . . 0.3287037 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . -0.2942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201430954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201430954 rs201430954 1 1538 10 1/0 0,213,255 +rs77430797 3 75787829 C G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787829 75787829 Chr3(GRCh37):g.75787829C>G *315 *315 NR_036235.1:n.*315C>G p.? p.? 1 rs77430797 no no 0 C 0.000000 0 transversion C G C>G 0.008 -1.086 185 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G945C:p.W315C . . . 0.123893805 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.229 . @ . . . . . 1 0.042 . . 226.0 . . . . . . . . . . -1.2238 -1.421 -1.224 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.072 @ . . . 0.16 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.096 0.004 . . 37 . 0.077 . . 0.224 . . . 0.124 0.504 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.144 . . 0 0 0 0 0 0 . 0.426 . . 0.267 . . . . . . 2 0.586 . . . . . 0.163 . 0.465 . LowAF 0.01 rs150361978 0.011 0.007 . . . . . . . . . . V.59 . . I.26 -1.89 . 0.010000 C9JSV9 . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.529 -0.529000 . . 0.010000 . . 1.0E-185 0.000 0.063 . 0.016 0.058 . 0.002 . 0.015 -0.529 -0.609 0.011 rs10449518 rs10449518 rs77430797 rs150361978 1 1538 10 1/0 0,193,255 +rs77430797 3 75787829 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787829 75787829 Chr3(GRCh37):g.75787829C>G 945 945 NM_001128223.2:c.945G>C p.Trp315Cys p.Trp315Cys 5 668 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787811 1.79492 0.000371 63.0095 2.60013 0.000601 63.0095 Zinc finger, C2H2 Zinc finger, C2H2-like rs77430797 no no 0 C 0.000000 0 transversion G C G>C 0.008 -1.086 W Trp TGG 1.000 C Cys TGC 0.552 315 10 4 White-tuffed-ear marmoset -5 -2 -5 0.13 II.75 5.IV 5.V 170 55 215 C15 190.51 125.67 Tolerated 0.1 III.91 185 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G945C:p.W315C . . . 0.123893805 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.229 . @ . . . . . 1 0.042 . . 226.0 . . . . . . . . . . -1.2238 -1.421 -1.224 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.072 @ . . . 0.16 0.33 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.096 0.004 . . 37 . 0.077 . . 0.224 . . . 0.124 0.504 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.144 . . 0 0 0 0 0 0 . 0.426 . . 0.267 . . . . . . 2 0.586 . . . . . 0.163 . 0.465 . LowAF 0.01 rs150361978 0.011 0.007 . . . . . . . . . . V.59 . . I.26 -1.89 . 0.010000 C9JSV9 . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.529 -0.529000 . . 0.010000 . . 1.0E-185 0.000 0.063 . 0.016 0.058 . 0.002 . 0.015 -0.529 -0.609 0.011 rs10449518 rs10449518 rs77430797 rs150361978 1 1538 10 1/0 0,193,255 +rs75388892 3 75787927 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787927 75787927 Chr3(GRCh37):g.75787927A>G *413 *413 NR_036235.1:n.*413A>G p.? p.? 1 rs75388892 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.433 1.820 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T847C:p.Y283H . . . 0.8034682 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.519 . . 173.0 . . . . . . . . . . -0.9119 -1.010 -0.912 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.155 @ . . . 0.19 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.162 . . 0.359 . . . 0.299 0.394 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.606 . . 0 0 0 0 0 0 . 0.235 . . 0.326 . . . . . . 2 0.274 . . . . . 0.121 . 0.376 . HOM 0.34 rs75388892 0.478 0.486 . . . . . . . . . . IV.68 . . 1.VI 0.407 . 0.040000 C9JSV9 . . . . . 0.129 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.145 0.145000 . . 0.040000 . . 1.0E-255 0.061 0.216 . 0.192 0.976 . 0.411 . 0.273 0.145 0.649 0.48 rs4079269 rs4079269 rs75388892 rs140371017 1 1538 10 1/0 0,248,245 +rs75388892 3 75787927 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787927 75787927 Chr3(GRCh37):g.75787927A>G 847 847 NM_001128223.2:c.847T>C p.Tyr283His p.Tyr283His 5 570 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs75388892 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.433 1.820 Y Tyr TAT 0.438 H His CAT 0.413 283 10 5 Cow 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 230.81 0.00 Tolerated 0.44 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T847C:p.Y283H . . . 0.8034682 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.519 . . 173.0 . . . . . . . . . . -0.9119 -1.010 -0.912 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.155 @ . . . 0.19 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.162 . . 0.359 . . . 0.299 0.394 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.606 . . 0 0 0 0 0 0 . 0.235 . . 0.326 . . . . . . 2 0.274 . . . . . 0.121 . 0.376 . HOM 0.34 rs75388892 0.478 0.486 . . . . . . . . . . IV.68 . . 1.VI 0.407 . 0.040000 C9JSV9 . . . . . 0.129 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.145 0.145000 . . 0.040000 . . 1.0E-255 0.061 0.216 . 0.192 0.976 . 0.411 . 0.273 0.145 0.649 0.48 rs4079269 rs4079269 rs75388892 rs140371017 1 1538 10 1/0 0,248,245 +rs76105745 3 75787949 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787949 75787949 Chr3(GRCh37):g.75787949C>T *435 *435 NR_036235.1:n.*435C>T p.? p.? 1 rs76105745 yes no Frequency 1 C 0.000000 0 0.002267 0.002205 0.004876 0.001792 0.002289 0.001079 0.002193 0.000757 0.000984 0.004876 101 9 31 4 5 6 42 3 1 44554 4082 6358 2232 2184 5562 19156 3964 1016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 9 31 4 5 6 42 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.417 -0.279 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G825A:p.Q275Q . . . 0.79310346 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 174.0 . . . . . . . . . . -0.5384 . . . . . . . . 5.261e-04 . . . 0 0.0004 0 0 0 0 0 0.0010 0 0.0006 0 0 0 0 0 0.0010 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs76105745 0.500 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0025 0.0049 0.0019 0.0026 0.0011 0.0024 0.0012 0.0011 0.0020 0.0012 0.0049 0 0 0 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs4079268 rs4079268 rs76105745 rs148003742 1 1538 10 1/0 0,247,244 +rs76105745 3 75787949 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787949 75787949 Chr3(GRCh37):g.75787949C>T 825 825 NM_001128223.2:c.825G>A p.Gln275= p.Gln275Gln 5 548 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75787951 0.000124 66.7759 0.0918865 0.0002 66.7759 rs76105745 yes no Frequency 1 C 0.000000 0 0.002267 0.002205 0.004876 0.001792 0.002289 0.001079 0.002193 0.000757 0.000984 0.004876 101 9 31 4 5 6 42 3 1 44554 4082 6358 2232 2184 5562 19156 3964 1016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 9 31 4 5 6 42 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.417 -0.279 Q Gln CAG 0.744 Q Gln CAA 0.256 275 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G825A:p.Q275Q . . . 0.79310346 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 174.0 . . . . . . . . . . -0.5384 . . . . . . . . 5.261e-04 . . . 0 0.0004 0 0 0 0 0 0.0010 0 0.0006 0 0 0 0 0 0.0010 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs76105745 0.500 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0025 0.0049 0.0019 0.0026 0.0011 0.0024 0.0012 0.0011 0.0020 0.0012 0.0049 0 0 0 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs4079268 rs4079268 rs76105745 rs148003742 1 1538 10 1/0 0,247,244 +rs76334908 3 75787961 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787961 75787961 Chr3(GRCh37):g.75787961A>G *447 *447 NR_036235.1:n.*447A>G p.? p.? 1 rs76334908 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.117 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T813C:p.T271T . . . 0.34857142 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 175.0 . . . . . . . . . . -0.0861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs76334908 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 rs4079267 rs4079267 rs76334908 rs147348598 1 1538 10 1/0 0,225,255 +rs76334908 3 75787961 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75787961 75787961 Chr3(GRCh37):g.75787961A>G 813 813 NM_001128223.2:c.813T>C p.Thr271= p.Thr271Thr 5 536 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76334908 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.117 T Thr ACT 0.243 T Thr ACC 0.361 271 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T813C:p.T271T . . . 0.34857142 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 175.0 . . . . . . . . . . -0.0861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs76334908 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 rs4079267 rs4079267 rs76334908 rs147348598 1 1538 10 1/0 0,225,255 +rs79540623 3 75787962 G C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787962 75787962 Chr3(GRCh37):g.75787962G>C *448 *448 NR_036235.1:n.*448G>C p.? p.? 1 rs79540623 yes no Frequency 1 G 0.000000 0 transversion G C G>C 0.000 -0.440 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C812G:p.T271S . . . 0.43575418 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.190 . . 179.0 . . . . . . . . . . -1.2573 -1.345 -1.257 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.131 @ . . . 0.27 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.088 . . 0.399 . . . 0.217 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.208 . . 0 0 0 0 0 0 . 0.210 . . 0.145 . . . . . . 2 0.136 . . . . . 0.169 . 0.380 . HET 0.23 rs79540623 0.391 0.377 . . . . . . . . . . V.78 . . 1.IV -0.0494 . 0.440000 C9JSV9 . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.004 0.004000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.043 0.601 . 0.086 . 0.273 0.004 0.562 0.39 . . rs79540623 rs148805158 1 1538 10 1/0 0,232,255 +rs79540623 3 75787962 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787962 75787962 Chr3(GRCh37):g.75787962G>C 812 812 NM_001128223.2:c.812C>G p.Thr271Ser p.Thr271Ser 5 535 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79540623 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -0.440 T Thr ACT 0.243 S Ser AGT 0.149 271 10 6 Opossum 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 143.69 45.19 Tolerated 0.11 III.85 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C812G:p.T271S . . . 0.43575418 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.190 . . 179.0 . . . . . . . . . . -1.2573 -1.345 -1.257 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.166 . . exonic exonic exonic . . 0.131 @ . . . 0.27 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.088 . . 0.399 . . . 0.217 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.208 . . 0 0 0 0 0 0 . 0.210 . . 0.145 . . . . . . 2 0.136 . . . . . 0.169 . 0.380 . HET 0.23 rs79540623 0.391 0.377 . . . . . . . . . . V.78 . . 1.IV -0.0494 . 0.440000 C9JSV9 . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.321 . 0.004 0.004000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.043 0.601 . 0.086 . 0.273 0.004 0.562 0.39 . . rs79540623 rs148805158 1 1538 10 1/0 0,232,255 +rs78640256 3 75787996 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75787996 75787996 Chr3(GRCh37):g.75787996C>T *482 *482 NR_036235.1:n.*482C>T p.? p.? 1 rs78640256 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.992 1.335 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G778A:p.G260R . . . 0.42487046 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.504 . @ . . . . . 1 0.461 . . 193.0 . . . . . . . . . . -0.2928 -0.496 -0.293 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.108 @ . . . 0.19 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.065 0.003 . . 37 . 0.094 . . 0.315 . . . 0.100 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.764 . . 0.613 . . . . . . 2 0.272 . . . . . 0.171 . 0.527 . HET 0.53 rs78640256 0.250 0.232 . . . . . . . . . . V.82 . . I.43 -0.654 . 0.100000 C9JSV9 . . . . . 0.174 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.180 -0.180000 . . 0.100000 . . 1.0E-255 0.001 0.137 . 0.016 0.294 . 0.160 . 0.277 -0.180 0.057 0.25 . . rs78640256 rs142456725 1 1538 10 1/0 0,227,255 +rs78640256 3 75787996 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75787996 75787996 Chr3(GRCh37):g.75787996C>T 778 778 NM_001128223.2:c.778G>A p.Gly260Arg p.Gly260Arg 5 501 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Donor Strongly Activated 75788000 9.78584 0.95188 84.5905 X.63 0.998206 94.6711 rs78640256 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.992 1.335 G Gly GGA 0.246 R Arg AGA 0.205 260 10 2 Northern white-cheeked gibbon -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G778A:p.G260R . . . 0.42487046 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.504 . @ . . . . . 1 0.461 . . 193.0 . . . . . . . . . . -0.2928 -0.496 -0.293 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.108 @ . . . 0.19 0.27 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.065 0.003 . . 37 . 0.094 . . 0.315 . . . 0.100 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.764 . . 0.613 . . . . . . 2 0.272 . . . . . 0.171 . 0.527 . HET 0.53 rs78640256 0.250 0.232 . . . . . . . . . . V.82 . . I.43 -0.654 . 0.100000 C9JSV9 . . . . . 0.174 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.180 -0.180000 . . 0.100000 . . 1.0E-255 0.001 0.137 . 0.016 0.294 . 0.160 . 0.277 -0.180 0.057 0.25 . . rs78640256 rs142456725 1 1538 10 1/0 0,227,255 +rs3009006 3 75788010 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788010 75788010 Chr3(GRCh37):g.75788010A>C *496 *496 NR_036235.1:n.*496A>C p.? p.? 1 rs3009006 yes no Frequency/HapMap 2 C 0.000000 0 0.002624 0.000418 0.008000 0.001946 0.008757 0.002796 0.001377 0.000000 0.005137 0.008757 136 2 56 5 20 17 30 0 6 51836 4790 7000 2570 2284 6080 21786 6158 1168 0.002585 0.000418 0.008000 0.001556 0.008757 0.002632 0.001377 0.000000 0.005137 67 1 28 2 10 8 15 0 3 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.024 -2.297 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T764G:p.V255G . . . 0.83146065 . . @ 148 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.146 . . 178.0 . . . . . . . . . . -2.0075 -2.073 -2.008 c . . . . . 1.291e-03 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.059 @ . . . 0.15 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . 31834 0.489935 64976 29693 0.494999 59986 Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.028 . . 0.369 . . . 0.112 0.189 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.085 . . . . . 0.065 . 0.362 . HOM 0.18 rs151311432 0.913 0.913 . . . . . . . . . . III.44 0.012097 . I.28 -2.56 . 0.300000 C9JSV9 . . . . . 0.032 . . . 0.0008 0.0032 0.0083 0.0020 0.0100 0 0.0017 0.0065 0.0028 0 0 0 0 0 0 0 0 . . 0.310 . -3.263 -3.263000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.016 0.238 . 0.024 . 0.001 -3.263 -2.431 0.91 rs3009006 rs3009006 rs3009006 rs151311432 1 1538 10 1/0 0,238,234 +rs3009006 3 75788010 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788010 75788010 Chr3(GRCh37):g.75788010A>C 764 764 NM_001128223.2:c.764T>G p.Val255Gly p.Val255Gly 5 487 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Acceptor Strongly Activated 75788010 I.07 0.002304 73.8038 3.37785 0.049419 80.048 rs3009006 yes no Frequency/HapMap 2 C 0.000000 0 0.002624 0.000418 0.008000 0.001946 0.008757 0.002796 0.001377 0.000000 0.005137 0.008757 136 2 56 5 20 17 30 0 6 51836 4790 7000 2570 2284 6080 21786 6158 1168 0.002585 0.000418 0.008000 0.001556 0.008757 0.002632 0.001377 0.000000 0.005137 67 1 28 2 10 8 15 0 3 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion T G T>G 0.024 -2.297 V Val GTG 0.468 G Gly GGG 0.250 255 10 1 -3 -3 -6 0 0.74 5.IX 9 84 3 109 C0 353.86 0.00 Tolerated 0.42 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T764G:p.V255G . . . 0.83146065 . . @ 148 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.146 . . 178.0 . . . . . . . . . . -2.0075 -2.073 -2.008 c . . . . . 1.291e-03 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.059 @ . . . 0.15 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . 31834 0.489935 64976 29693 0.494999 59986 Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.028 . . 0.369 . . . 0.112 0.189 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.085 . . . . . 0.065 . 0.362 . HOM 0.18 rs151311432 0.913 0.913 . . . . . . . . . . III.44 0.012097 . I.28 -2.56 . 0.300000 C9JSV9 . . . . . 0.032 . . . 0.0008 0.0032 0.0083 0.0020 0.0100 0 0.0017 0.0065 0.0028 0 0 0 0 0 0 0 0 . . 0.310 . -3.263 -3.263000 . . 0.300000 . . 1.0E-255 0.000 0.063 . 0.016 0.238 . 0.024 . 0.001 -3.263 -2.431 0.91 rs3009006 rs3009006 rs3009006 rs151311432 1 1538 10 1/0 0,238,234 +rs76889571 3 75788023 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788023 75788023 Chr3(GRCh37):g.75788023C>T *509 *509 NR_036235.1:n.*509C>T p.? p.? 1 rs76889571 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -1.732 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G751A:p.V251I . . . 0.73015875 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.045 . . 189.0 . . . . . . . . . . -1.7022 -1.809 -1.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.033 @ . . . 0.16 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.025 . . 0.410 . . . 0.123 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.054 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.103 . . . . . 0.003 . 0.326 . HET 0.53 rs76889571 0.489 0.478 . . . . . . . . . . 0.3342 . . 2.II -4.4 . 0.370000 C9JSV9 . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -2.471 -2.471000 . . 0.370000 . . 1.0E-255 0.000 0.063 . 0.016 0.375 . 0.036 . 0.005 -2.471 0.057 0.49 . . rs76889571 rs139365447 1 1538 10 1/0 0,238,235 +rs76889571 3 75788023 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788023 75788023 Chr3(GRCh37):g.75788023C>T 751 751 NM_001128223.2:c.751G>A p.Val251Ile p.Val251Ile 5 474 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76889571 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 -1.732 V Val GTT 0.178 I Ile ATT 0.356 251 10 2 Northern white-cheeked gibbon 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G751A:p.V251I . . . 0.73015875 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.045 . . 189.0 . . . . . . . . . . -1.7022 -1.809 -1.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.062 . . exonic exonic exonic . . 0.033 @ . . . 0.16 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.025 . . 0.410 . . . 0.123 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.054 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.103 . . . . . 0.003 . 0.326 . HET 0.53 rs76889571 0.489 0.478 . . . . . . . . . . 0.3342 . . 2.II -4.4 . 0.370000 C9JSV9 . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -2.471 -2.471000 . . 0.370000 . . 1.0E-255 0.000 0.063 . 0.016 0.375 . 0.036 . 0.005 -2.471 0.057 0.49 . . rs76889571 rs139365447 1 1538 10 1/0 0,238,235 +rs77971486 3 75788028 G C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788028 75788028 Chr3(GRCh37):g.75788028G>C *514 *514 NR_036235.1:n.*514G>C p.? p.? 1 rs77971486 no no 0 G 0.000000 0 transversion G C G>C 0.000 1.335 154 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C746G:p.S249X . . . 0.31351352 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 0 0.357 . . 185.0 . . . . . . . . . . 0.1702 -0.237 0.170 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.206 @ . . . 0.26 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.114 . . . HET 0.44 rs77971486 0.239 0.261 . . . . . . . . . . IV.86 . . 2.II I.29 . 0.140000 . . . . . . 0.144 . . . . . . . . . . . . . . . . . . . . . . 0.050 . 0.521 0.521000 . . 0.140000 . . 1.0E-154 0.004 0.165 . 0.147 0.434 . 0.280 . 0.289 0.521 0.562 0.24 . . rs77971486 rs150689808 1 1538 10 1/0 0,230,255 +rs77971486 3 75788028 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution stop gain exon GRCh37 75788028 75788028 Chr3(GRCh37):g.75788028G>C 746 746 NM_001128223.2:c.746C>G p.Ser249* p.Ser249* 5 469 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77971486 no no 0 G 0.000000 0 transversion C G C>G 0.000 1.335 S Ser TCA 0.148 * * TGA 0.489 249 154 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C746G:p.S249X . . . 0.31351352 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 0 0.357 . . 185.0 . . . . . . . . . . 0.1702 -0.237 0.170 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.206 @ . . . 0.26 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.114 . . . HET 0.44 rs77971486 0.239 0.261 . . . . . . . . . . IV.86 . . 2.II I.29 . 0.140000 . . . . . . 0.144 . . . . . . . . . . . . . . . . . . . . . . 0.050 . 0.521 0.521000 . . 0.140000 . . 1.0E-154 0.004 0.165 . 0.147 0.434 . 0.280 . 0.289 0.521 0.562 0.24 . . rs77971486 rs150689808 1 1538 10 1/0 0,230,255 +rs74357986 3 75788068 A C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788068 75788068 Chr3(GRCh37):g.75788068A>C *554 *554 NR_036235.1:n.*554A>C p.? p.? 1 rs74357986 no no 0 A 0.000000 0 transversion A C A>C 0.000 0.125 253 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T706G:p.F236V . . . 0.3147208 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.150 . . 197.0 . . . . . . . . . . -1.2969 -1.418 -1.297 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . 0.039 @ . . . 0.2 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.023 . . 0.400 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.269 . . 0.205 . . . . . . 2 0.079 . . . . . 0.014 . 0.420 . HET 0.31 rs74357986 0.163 0.181 . . . . . . . . . . 1.0255 . . I.94 -3.88 . 0.050000 C9JSV9 . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -1.309 -1.309000 . . 0.050000 . . 1.0E-253 0.000 0.063 . 0.016 0.007 . 0.034 . 0.011 -1.309 -0.216 0.16 rs1686397 rs1686397 rs74357986 rs144262325 1 1538 10 1/0 0,216,255 +rs74357986 3 75788068 A C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788068 75788068 Chr3(GRCh37):g.75788068A>C 706 706 NM_001128223.2:c.706T>G p.Phe236Val p.Phe236Val 5 429 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs74357986 no no 0 A 0.000000 0 transversion T G T>G 0.000 0.125 F Phe TTT 0.454 V Val GTT 0.178 236 10 2 Northern white-cheeked gibbon 0 -1 -2 0 0 5.II 5.IX 132 84 50 C0 353.86 0.00 Deleterious 0 IV.32 253 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T706G:p.F236V . . . 0.3147208 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.150 . . 197.0 . . . . . . . . . . -1.2969 -1.418 -1.297 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . 0.039 @ . . . 0.2 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.023 . . 0.400 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.269 . . 0.205 . . . . . . 2 0.079 . . . . . 0.014 . 0.420 . HET 0.31 rs74357986 0.163 0.181 . . . . . . . . . . 1.0255 . . I.94 -3.88 . 0.050000 C9JSV9 . . . . . 0.054 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -1.309 -1.309000 . . 0.050000 . . 1.0E-253 0.000 0.063 . 0.016 0.007 . 0.034 . 0.011 -1.309 -0.216 0.16 rs1686397 rs1686397 rs74357986 rs144262325 1 1538 10 1/0 0,216,255 +rs77856895 3 75788088 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788088 75788088 Chr3(GRCh37):g.75788088C>T *574 *574 NR_036235.1:n.*574C>T p.? p.? 1 rs77856895 no no 0 C 0.000000 0 transition C T C>T 0.008 -0.117 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G686A:p.R229K . . . 0.24170616 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.090 . . 211.0 . . . . . . . . . . -1.0674 -1.194 -1.067 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.068 . . exonic exonic exonic . . 0.114 @ . . . 0.22 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.062 . . 0.400 . . . 0.447 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.211 . . 0.149 . . . . . . 2 0.158 . . . . . 0.030 . 0.323 . HET 0.34 rs77856895 0.196 0.167 . . . . . . . . . . 1.901 . . I.52 -0.481 . 0.210000 C9JSV9 . . . . . 0.053 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -0.116 -0.116000 . . 0.210000 . . 1.0E-230 0.000 0.063 . 0.062 0.061 . 0.222 . 0.014 -0.116 -0.269 0.2 rs4509589 rs4509589 rs77856895 rs151216671 1 1538 10 1/0 0,207,255 +rs77856895 3 75788088 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788088 75788088 Chr3(GRCh37):g.75788088C>T 686 686 NM_001128223.2:c.686G>A p.Arg229Lys p.Arg229Lys 5 409 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Cryptic Donor Strongly Activated 75788087 0.017289 57.9201 4.33608 0.500041 66.8809 Zinc finger, C2H2 Zinc finger, C2H2-like rs77856895 no no 0 C 0.000000 0 transition G A G>A 0.008 -0.117 R Arg AGG 0.207 K Lys AAG 0.575 229 10 2 Northern white-cheeked gibbon 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 353.86 0.00 Deleterious 0 IV.32 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G686A:p.R229K . . . 0.24170616 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.090 . . 211.0 . . . . . . . . . . -1.0674 -1.194 -1.067 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.068 . . exonic exonic exonic . . 0.114 @ . . . 0.22 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.062 . . 0.400 . . . 0.447 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.211 . . 0.149 . . . . . . 2 0.158 . . . . . 0.030 . 0.323 . HET 0.34 rs77856895 0.196 0.167 . . . . . . . . . . 1.901 . . I.52 -0.481 . 0.210000 C9JSV9 . . . . . 0.053 . . . . . . . . . . . . . . . . . . . . . . 0.050 . -0.116 -0.116000 . . 0.210000 . . 1.0E-230 0.000 0.063 . 0.062 0.061 . 0.222 . 0.014 -0.116 -0.269 0.2 rs4509589 rs4509589 rs77856895 rs151216671 1 1538 10 1/0 0,207,255 +rs62246570 3 75788115 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788115 75788115 Chr3(GRCh37):g.75788115G>A *601 *601 NR_036235.1:n.*601G>A p.? p.? 1 rs62246570 no no 0 G 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000148 0.000000 0.000000 0.000000 0.000000 0.000148 1 0 0 0 1 0 0 0 0 109054 5502 18648 5722 6740 13174 45118 11312 2838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 49 Exomes transition G A G>A 0.000 -1.732 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C659T:p.T220M . . . 0.73846155 . . @ 144 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.051 . @ . . . . . 1 0.038 . . 195.0 . . . . . . . . . . -1.1954 -1.461 -1.195 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.610 . . exonic exonic exonic . . 0.039 @ . . . 0.26 0.36 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.174 0.007 . . 37 . 0.409 . . 0.362 . . . 0.124 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.670 . . 0.441 . . . . . . 2 0.308 . . . . . 0.212 . 0.385 . HET 0.17 rs62246570 0.446 0.442 . . . . . . . . . . 6.495 . . I.94 -3.88 . 0.220000 C9JSV9 . . . . . 0.036 . . . 0 9.17e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . 0.310 . -1.345 -1.345000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.043 0.018 . 0.014 . 0.289 -1.345 -0.628 0.45 rs62246570 rs62246570 rs62246570 rs145020778 1 1538 10 1/0 0,233,229 +rs62246570 3 75788115 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788115 75788115 Chr3(GRCh37):g.75788115G>A 659 659 NM_001128223.2:c.659C>T p.Thr220Met p.Thr220Met 5 382 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs62246570 no no 0 G 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000148 0.000000 0.000000 0.000000 0.000000 0.000148 1 0 0 0 1 0 0 0 0 109054 5502 18648 5722 6740 13174 45118 11312 2838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 49 Exomes transition C T C>T 0.000 -1.732 T Thr ACG 0.116 M Met ATG 1.000 220 10 1 -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Tolerated 0.11 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C659T:p.T220M . . . 0.73846155 . . @ 144 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.051 . @ . . . . . 1 0.038 . . 195.0 . . . . . . . . . . -1.1954 -1.461 -1.195 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.610 . . exonic exonic exonic . . 0.039 @ . . . 0.26 0.36 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.174 0.007 . . 37 . 0.409 . . 0.362 . . . 0.124 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.670 . . 0.441 . . . . . . 2 0.308 . . . . . 0.212 . 0.385 . HET 0.17 rs62246570 0.446 0.442 . . . . . . . . . . 6.495 . . I.94 -3.88 . 0.220000 C9JSV9 . . . . . 0.036 . . . 0 9.17e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . 0.310 . -1.345 -1.345000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.043 0.018 . 0.014 . 0.289 -1.345 -0.628 0.45 rs62246570 rs62246570 rs62246570 rs145020778 1 1538 10 1/0 0,233,229 +rs113708852 3 75788130 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788130 75788130 Chr3(GRCh37):g.75788130C>A *616 *616 NR_036235.1:n.*616C>A p.? p.? 1 rs113708852 yes no Frequency 1 C 0.000000 0 transversion C A C>A 0.071 0.528 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G644T:p.G215V . . . 0.33505154 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.092 . . 194.0 . . . . . . . . . . -0.6562 -0.946 -0.656 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.663 . . exonic exonic exonic . . 0.081 @ . . . 0.21 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.186 0.007 . . 37 . 0.668 . . 0.615 . . . 0.895 0.214 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.844 . . 0 0 0 0 0 0 . 0.415 . . 0.373 . . . . . . 2 0.586 . . . . . 0.060 . 0.421 . HET 0.06 rs113708852 0.185 0.174 . . . . . . . . . . 3.1306 . . I.94 -1.54 . 0.020000 C9JSV9 . . . . . 0.107 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.359 -0.359000 . . 0.020000 . . 1.0E-255 0.002 0.151 . 0.062 0.083 . 0.286 . 0.284 -0.359 0.542 0.18 . . rs113708852 rs113708852 1 1538 10 1/0 0,218,255 +rs113708852 3 75788130 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788130 75788130 Chr3(GRCh37):g.75788130C>A 644 644 NM_001128223.2:c.644G>T p.Gly215Val p.Gly215Val 5 367 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs113708852 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.071 0.528 G Gly GGG 0.250 V Val GTG 0.468 215 10 6 Opossum -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 353.86 0.00 Deleterious 0.03 III.93 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G644T:p.G215V . . . 0.33505154 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.092 . . 194.0 . . . . . . . . . . -0.6562 -0.946 -0.656 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.663 . . exonic exonic exonic . . 0.081 @ . . . 0.21 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.186 0.007 . . 37 . 0.668 . . 0.615 . . . 0.895 0.214 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.844 . . 0 0 0 0 0 0 . 0.415 . . 0.373 . . . . . . 2 0.586 . . . . . 0.060 . 0.421 . HET 0.06 rs113708852 0.185 0.174 . . . . . . . . . . 3.1306 . . I.94 -1.54 . 0.020000 C9JSV9 . . . . . 0.107 . . . . . . . . . . . . . . . . . . . . . . 0.310 . -0.359 -0.359000 . . 0.020000 . . 1.0E-255 0.002 0.151 . 0.062 0.083 . 0.286 . 0.284 -0.359 0.542 0.18 . . rs113708852 rs113708852 1 1538 10 1/0 0,218,255 +. 3 75788150 A AG - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 duplication downstream GRCh37 75788151 75788152 Chr3(GRCh37):g.75788151dup *637 *637 NR_036235.1:n.*637dup p.? p.? 1 rs143871834 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.623dupC:p.T208fs . . . 0.35955057 . . . 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs143871834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs143871834 rs143871834 1 1538 10 1.I 0,11,44 +. 3 75788150 A AG - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 duplication frameshift exon GRCh37 75788150 75788151 Chr3(GRCh37):g.75788151dup 623 623 NM_001128223.2:c.623dup p.Gln210Serfs*3 p.Gln210Serfs*3 5 346 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs143871834 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.623dupC:p.T208fs . . . 0.35955057 . . . 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs143871834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs143871834 rs143871834 1 1538 10 1.I 0,11,44 +rs76179262 3 75788152 T G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788152 75788152 Chr3(GRCh37):g.75788152T>G *638 *638 NR_036235.1:n.*638T>G p.? p.? 1 rs76179262 yes no Frequency/1000G 2 T 0.000000 0 transversion T G T>G 0.031 0.528 110 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A622C:p.T208P . . . 0.41573033 . . @ 74 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.064 . . 178.0 . . . . . . . . . . -1.6329 -1.571 -1.633 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.556 . . exonic exonic exonic . . 0.198 @ . . . 0.24 0.42 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.088 0.004 . . 37 . 0.125 . . 0.339 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.103 . 0.400 . HET 0.37 rs76179262 0.207 0.196 . . . . . . . . . . IV.96 . . 2.VII I.16 . 1.000000 C9JSV9 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.063 0.063000 . . 1.000000 . . 1.0E-110 0.011 0.184 . 0.016 0.041 . 0.254 . 0.002 0.063 -2.299 0.21 . . rs76179262 rs148372120 1 1538 10 1/0 0,255,255 +rs76179262 3 75788152 T G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788152 75788152 Chr3(GRCh37):g.75788152T>G 622 622 NM_001128223.2:c.622A>C p.Thr208Pro p.Thr208Pro 5 345 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76179262 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.031 0.528 T Thr ACT 0.243 P Pro CCT 0.283 208 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.24 4.I 110 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A622C:p.T208P . . . 0.41573033 . . @ 74 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.064 . . 178.0 . . . . . . . . . . -1.6329 -1.571 -1.633 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.556 . . exonic exonic exonic . . 0.198 @ . . . 0.24 0.42 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.088 0.004 . . 37 . 0.125 . . 0.339 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.103 . 0.400 . HET 0.37 rs76179262 0.207 0.196 . . . . . . . . . . IV.96 . . 2.VII I.16 . 1.000000 C9JSV9 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.063 0.063000 . . 1.000000 . . 1.0E-110 0.011 0.184 . 0.016 0.041 . 0.254 . 0.002 0.063 -2.299 0.21 . . rs76179262 rs148372120 1 1538 10 1/0 0,255,255 +rs202056407 3 75788156 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788156 75788156 Chr3(GRCh37):g.75788156C>T *642 *642 NR_036235.1:n.*642C>T p.? p.? 1 rs202056407 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119718 5880 20490 6546 7124 14626 48752 13184 3116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 59 Exomes transition C T C>T 0.630 1.093 211 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G618A:p.L206L . . . 0.18817204 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . -0.1286 . . . . . . . . 1.022e-04 . . . 0 0.0001 0 0 0 0 0 0.0004 0 0.0002 0 0 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs202056407 0.098 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.098 rs4509588 rs4509588 rs202056407 rs202056407 1 1538 10 1/0 0,208,255 +rs202056407 3 75788156 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788156 75788156 Chr3(GRCh37):g.75788156C>T 618 618 NM_001128223.2:c.618G>A p.Leu206= p.Leu206Leu 5 341 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs202056407 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119718 5880 20490 6546 7124 14626 48752 13184 3116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 59 Exomes transition G A G>A 0.630 1.093 L Leu CTG 0.404 L Leu CTA 0.070 206 211 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G618A:p.L206L . . . 0.18817204 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . -0.1286 . . . . . . . . 1.022e-04 . . . 0 0.0001 0 0 0 0 0 0.0004 0 0.0002 0 0 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.32 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs202056407 0.098 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.098 rs4509588 rs4509588 rs202056407 rs202056407 1 1538 10 1/0 0,208,255 +rs200778975 3 75788165 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788165 75788165 Chr3(GRCh37):g.75788165T>C *651 *651 NR_036235.1:n.*651T>C p.? p.? 1 rs200778975 no no 0 T 0.000000 0 transition T C T>C 0.260 0.367 210 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A609G:p.Q203Q . . . 0.18367347 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 196.0 . . . . . . . . . . 0.1086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.42 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200778975 0.098 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . 0.098 rs4607894 rs4607894 rs200778975 rs200778975 1 1538 10 1/0 0,205,255 +rs200778975 3 75788165 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788165 75788165 Chr3(GRCh37):g.75788165T>C 609 609 NM_001128223.2:c.609A>G p.Gln203= p.Gln203Gln 5 332 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs200778975 no no 0 T 0.000000 0 transition A G A>G 0.260 0.367 Q Gln CAA 0.256 Q Gln CAG 0.744 203 210 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A609G:p.Q203Q . . . 0.18367347 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 196.0 . . . . . . . . . . 0.1086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.42 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200778975 0.098 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . 0.098 rs4607894 rs4607894 rs200778975 rs200778975 1 1538 10 1/0 0,205,255 +rs77110669 3 75788199 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788199 75788199 Chr3(GRCh37):g.75788199T>C *685 *685 NR_036235.1:n.*685T>C p.? p.? 1 rs77110669 yes no Frequency 1 T 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.000000 0.000080 1 0 0 0 0 0 0 1 0 116088 5338 20196 6406 7050 14510 47052 12496 3040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition T C T>C 0.000 -0.117 251 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A575G:p.H192R . . . 0.30857143 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.053 . . 175.0 . . . . . . . . . . -1.8632 -1.930 -1.863 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.411 . . exonic exonic exonic . . 0.039 @ . . . 0.21 0.45 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.458 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.144 . . 0.236 . . . 0.209 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.233 . . 0.184 . . . . . . 2 0.038 . . . . . 0.080 . 0.458 . HET 0.8 rs77110669 0.076 0.058 . . . . . . . . . . 3.756 . . I.92 -3.85 . 0.590000 C9JSV9 . . . . . 0.035 . . . 0 8.614e-06 0 0 0 8.003e-05 0 0 0 . . . . . . . . . . 0.553 . -1.218 -1.218000 . . 0.590000 . . 1.0E-251 0.000 0.063 . 0.016 0.017 . 0.018 . 0.020 -1.218 0.615 0.076 . . rs77110669 rs146090776 1 1538 10 1/0 0,221,255 +rs77110669 3 75788199 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788199 75788199 Chr3(GRCh37):g.75788199T>C 575 575 NM_001128223.2:c.575A>G p.His192Arg p.His192Arg 5 298 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77110669 yes no Frequency 1 T 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.000000 0.000080 1 0 0 0 0 0 0 1 0 116088 5338 20196 6406 7050 14510 47052 12496 3040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition A G A>G 0.000 -0.117 H His CAT 0.413 R Arg CGT 0.082 192 10 2 Northern white-cheeked gibbon 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Tolerated 0.34 III.90 251 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A575G:p.H192R . . . 0.30857143 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.053 . . 175.0 . . . . . . . . . . -1.8632 -1.930 -1.863 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.411 . . exonic exonic exonic . . 0.039 @ . . . 0.21 0.45 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.458 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.144 . . 0.236 . . . 0.209 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.233 . . 0.184 . . . . . . 2 0.038 . . . . . 0.080 . 0.458 . HET 0.8 rs77110669 0.076 0.058 . . . . . . . . . . 3.756 . . I.92 -3.85 . 0.590000 C9JSV9 . . . . . 0.035 . . . 0 8.614e-06 0 0 0 8.003e-05 0 0 0 . . . . . . . . . . 0.553 . -1.218 -1.218000 . . 0.590000 . . 1.0E-251 0.000 0.063 . 0.016 0.017 . 0.018 . 0.020 -1.218 0.615 0.076 . . rs77110669 rs146090776 1 1538 10 1/0 0,221,255 +rs200049185 3 75788217 G A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788217 75788217 Chr3(GRCh37):g.75788217G>A *703 *703 NR_036235.1:n.*703G>A p.? p.? 1 rs200049185 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.117 202 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C557T:p.T186I . . . 0.1633987 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.380 . . 153.0 . . . . . . . . . . -1.1472 -1.242 -1.147 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.601 . . exonic exonic exonic . . 0.091 @ . . . 0.29 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.413 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.172 0.006 . . 37 . 0.319 . . 0.176 . . . 0.270 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.222 . . 0.158 . . . . . . 2 0.238 . . . . . 0.044 . 0.484 . HET 0.38 rs200049185 0.011 0.007 . . . . . . . . . . 2.541 . . 2.VII -1.17 . 0.040000 C9JSV9 . . . . . 0.032 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.277 -0.277000 . . 0.040000 . . 1.0E-202 0.000 0.063 . 0.043 0.001 . 0.138 . 0.282 -0.277 -0.628 0.011 rs4582810 rs4582810 rs200049185 rs200049185 1 1538 10 1/0 0,214,255 +rs200049185 3 75788217 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788217 75788217 Chr3(GRCh37):g.75788217G>A 557 557 NM_001128223.2:c.557C>T p.Thr186Ile p.Thr186Ile 5 280 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs200049185 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.117 T Thr ACC 0.361 I Ile ATC 0.481 186 10 2 Northern white-cheeked gibbon -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.16 IV.14 202 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C557T:p.T186I . . . 0.1633987 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.380 . . 153.0 . . . . . . . . . . -1.1472 -1.242 -1.147 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.601 . . exonic exonic exonic . . 0.091 @ . . . 0.29 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.413 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.172 0.006 . . 37 . 0.319 . . 0.176 . . . 0.270 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.222 . . 0.158 . . . . . . 2 0.238 . . . . . 0.044 . 0.484 . HET 0.38 rs200049185 0.011 0.007 . . . . . . . . . . 2.541 . . 2.VII -1.17 . 0.040000 C9JSV9 . . . . . 0.032 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.277 -0.277000 . . 0.040000 . . 1.0E-202 0.000 0.063 . 0.043 0.001 . 0.138 . 0.282 -0.277 -0.628 0.011 rs4582810 rs4582810 rs200049185 rs200049185 1 1538 10 1/0 0,214,255 +rs79835104 3 75788245 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788245 75788245 Chr3(GRCh37):g.75788245C>T *731 *731 NR_036235.1:n.*731C>T p.? p.? 1 rs79835104 no no 0 C 0.000000 0 transition C T C>T 0.969 3.514 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G529A:p.G177R . . . 0.37857142 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.485 . @ . . . . . 1 0.606 . . 140.0 . . . . . . . . . . -0.1414 -0.397 -0.141 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.259 @ . . . 0.43 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.386 0.017 . . 37 . 0.694 . . 0.711 . . . 0.637 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.662 . . 0 0 0 0 0 0 . 0.622 . . 0.610 . . . . . . 2 0.155 . . . . . 0.429 . 0.515 . HET 0.23 rs79835104 0.076 0.058 . . . . . . . . . . X.94 . . 2.VII 2.VII . 0.120000 C9JSV9 . . . . . 0.083 . . 2.VII . . . . . . . . . . . . . . . . . . . 0.321 . 1.540 1.540000 . . 0.120000 . . 1.0E-255 0.129 0.231 . 0.043 0.594 . 0.417 . 0.283 1.540 0.542 0.076 . . rs79835104 rs142742998 1 1538 10 1/0 0,237,255 +rs79835104 3 75788245 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788245 75788245 Chr3(GRCh37):g.75788245C>T 529 529 NM_001128223.2:c.529G>A p.Gly177Arg p.Gly177Arg 5 252 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79835104 no no 0 C 0.000000 0 transition G A G>A 0.969 3.514 G Gly GGA 0.246 R Arg AGA 0.205 177 10 4 Opossum -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G529A:p.G177R . . . 0.37857142 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.485 . @ . . . . . 1 0.606 . . 140.0 . . . . . . . . . . -0.1414 -0.397 -0.141 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.259 @ . . . 0.43 0.37 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.386 0.017 . . 37 . 0.694 . . 0.711 . . . 0.637 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.662 . . 0 0 0 0 0 0 . 0.622 . . 0.610 . . . . . . 2 0.155 . . . . . 0.429 . 0.515 . HET 0.23 rs79835104 0.076 0.058 . . . . . . . . . . X.94 . . 2.VII 2.VII . 0.120000 C9JSV9 . . . . . 0.083 . . 2.VII . . . . . . . . . . . . . . . . . . . 0.321 . 1.540 1.540000 . . 0.120000 . . 1.0E-255 0.129 0.231 . 0.043 0.594 . 0.417 . 0.283 1.540 0.542 0.076 . . rs79835104 rs142742998 1 1538 10 1/0 0,237,255 +rs79526626 3 75788258 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788258 75788258 Chr3(GRCh37):g.75788258C>A *744 *744 NR_036235.1:n.*744C>A p.? p.? 1 rs79526626 yes no Frequency 1 C 0.000000 0 0.001041 0.002306 0.000766 0.000546 0.000202 0.000228 0.001127 0.000794 0.001786 0.002306 64 16 7 1 1 1 31 4 3 61454 6938 9140 1832 4940 4386 27502 5036 1680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 16 7 1 1 1 31 4 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.440 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G516T:p.G172G . . . 0.7285714 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.3189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.39 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs79526626 0.217 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0.0002 0.0006 0 0 4.723e-05 0 0.0002 0.0046 0.0046 0.0128 0 0.0025 0.0022 0.0047 0.0075 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.22 . . rs79526626 rs147362558 1 1538 10 1/0 0,254,252 +rs79526626 3 75788258 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788258 75788258 Chr3(GRCh37):g.75788258C>A 516 516 NM_001128223.2:c.516G>T p.Gly172= p.Gly172Gly 5 239 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 New Donor Site 75788260 7.53822 0.963947 81.7977 rs79526626 yes no Frequency 1 C 0.000000 0 0.001041 0.002306 0.000766 0.000546 0.000202 0.000228 0.001127 0.000794 0.001786 0.002306 64 16 7 1 1 1 31 4 3 61454 6938 9140 1832 4940 4386 27502 5036 1680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 16 7 1 1 1 31 4 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -0.440 G Gly GGG 0.250 G Gly GGT 0.162 172 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G516T:p.G172G . . . 0.7285714 . . @ 102 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.3189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.39 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs79526626 0.217 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0.0002 0.0006 0 0 4.723e-05 0 0.0002 0.0046 0.0046 0.0128 0 0.0025 0.0022 0.0047 0.0075 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.22 . . rs79526626 rs147362558 1 1538 10 1/0 0,254,252 +rs77301061 3 75788273 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788273 75788273 Chr3(GRCh37):g.75788273G>T *759 *759 NR_036235.1:n.*759G>T p.? p.? 1 rs77301061 yes no Frequency 1 G 0.000000 0 transversion G T G>T 0.000 -0.763 182 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C501A:p.F167L . . . 0.11764706 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.116 . . 136.0 . . . . . . . . . . -1.3305 -1.383 -1.331 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . 0.085 @ . . . 0.39 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.167 . . 0.283 . . . 0.187 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 2 0.041 . . . . . 0.087 . 0.317 . LowAF 1 rs77301061 . 0.007 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . III.61 . . 2.VII -1.39 . 0.730000 C9JSV9 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -0.312 -0.312000 . . 0.730000 . . 1.0E-182 0.131 0.231 . 0.043 0.031 . 0.348 . 0.288 -0.312 0.060 . rs4240969 rs4240969 rs77301061 rs77301061 1 1538 10 1/0 0,215,255 +rs77301061 3 75788273 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788273 75788273 Chr3(GRCh37):g.75788273G>T 501 501 NM_001128223.2:c.501C>A p.Phe167Leu p.Phe167Leu 5 224 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs77301061 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.000 -0.763 F Phe TTC 0.546 L Leu TTA 0.073 167 10 3 White-tuffed-ear marmoset 1 0 0 0 0 5.II 4.IX 132 111 22 C0 353.86 0.00 Tolerated 0.35 IV.32 182 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C501A:p.F167L . . . 0.11764706 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.116 . . 136.0 . . . . . . . . . . -1.3305 -1.383 -1.331 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . 0.085 @ . . . 0.39 0.29 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.167 . . 0.283 . . . 0.187 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 2 0.041 . . . . . 0.087 . 0.317 . LowAF 1 rs77301061 . 0.007 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000066187.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . III.61 . . 2.VII -1.39 . 0.730000 C9JSV9 . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.553 . -0.312 -0.312000 . . 0.730000 . . 1.0E-182 0.131 0.231 . 0.043 0.031 . 0.348 . 0.288 -0.312 0.060 . rs4240969 rs4240969 rs77301061 rs77301061 1 1538 10 1/0 0,215,255 +rs76243986 3 75788281 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788281 75788281 Chr3(GRCh37):g.75788281T>C *767 *767 NR_036235.1:n.*767T>C p.? p.? 1 rs76243986 yes no Frequency 1 T 0.000000 0 0.001642 0.003404 0.000759 0.000868 0.001045 0.000000 0.001841 0.000637 0.003145 0.003404 77 20 5 1 4 0 41 2 4 46886 5876 6588 1152 3828 2758 22274 3138 1272 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 20 5 1 4 0 41 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.812 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A493G:p.M165V . . . 0.74626863 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.028 . . 134.0 . . . . . . . . . . -1.8649 -1.946 -1.865 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.389 . . exonic exonic exonic . . 0.036 @ . . . 0.39 0.48 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.178 . . 0.229 . . . 0.043 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.110 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.076 . . . . . 0.141 . 0.483 . HET 0.57 rs76243986 0.370 0.362 . . . . . . . . . . 5.1252 . . 2.VII -4.14 . 0.560000 C9JSV9 . . . . . 0.041 . . . 0.0003 0.0003 0.0002 0.0010 0.0003 0 0.0004 0 0 0.0070 0.0057 0.0115 0 0.0084 0.0013 0.0057 0.0107 . . 0.553 . -1.813 -1.813000 . . 0.560000 . . 1.0E-255 0.000 0.063 . 0.016 0.058 . 0.147 . 0.007 -1.813 0.615 0.37 . . rs76243986 rs139032275 1 1538 10 1/0 0,255,253 +rs76243986 3 75788281 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788281 75788281 Chr3(GRCh37):g.75788281T>C 493 493 NM_001128223.2:c.493A>G p.Met165Val p.Met165Val 5 216 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs76243986 yes no Frequency 1 T 0.000000 0 0.001642 0.003404 0.000759 0.000868 0.001045 0.000000 0.001841 0.000637 0.003145 0.003404 77 20 5 1 4 0 41 2 4 46886 5876 6588 1152 3828 2758 22274 3138 1272 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 20 5 1 4 0 41 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.812 M Met ATG 1.000 V Val GTG 0.468 165 10 2 White-tuffed-ear marmoset 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 353.86 0.00 Tolerated 1 IV.14 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A493G:p.M165V . . . 0.74626863 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.028 . . 134.0 . . . . . . . . . . -1.8649 -1.946 -1.865 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.389 . . exonic exonic exonic . . 0.036 @ . . . 0.39 0.48 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.178 . . 0.229 . . . 0.043 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.110 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.076 . . . . . 0.141 . 0.483 . HET 0.57 rs76243986 0.370 0.362 . . . . . . . . . . 5.1252 . . 2.VII -4.14 . 0.560000 C9JSV9 . . . . . 0.041 . . . 0.0003 0.0003 0.0002 0.0010 0.0003 0 0.0004 0 0 0.0070 0.0057 0.0115 0 0.0084 0.0013 0.0057 0.0107 . . 0.553 . -1.813 -1.813000 . . 0.560000 . . 1.0E-255 0.000 0.063 . 0.016 0.058 . 0.147 . 0.007 -1.813 0.615 0.37 . . rs76243986 rs139032275 1 1538 10 1/0 0,255,253 +. 3 75788291 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788291 75788291 Chr3(GRCh37):g.75788291A>G *777 *777 NR_036235.1:n.*777A>G p.? p.? 1 rs796661899 no no 0 0.000000 0 transition A G A>G 0.000 -0.602 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T483C:p.D161D . . . 0.35433072 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . -0.3819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs138877004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75972102 rs138877004 1 1538 10 1/0 0,240,255 +. 3 75788291 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788291 75788291 Chr3(GRCh37):g.75788291A>G 483 483 NM_001128223.2:c.483T>C p.Asp161= p.Asp161Asp 5 206 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs796661899 no no 0 0.000000 0 transition T C T>C 0.000 -0.602 D Asp GAT 0.461 D Asp GAC 0.539 161 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T483C:p.D161D . . . 0.35433072 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . -0.3819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.34 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs138877004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75972102 rs138877004 1 1538 10 1/0 0,240,255 +. 3 75788303 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788303 75788303 Chr3(GRCh37):g.75788303C>T *789 *789 NR_036235.1:n.*789C>T p.? p.? 1 transition C T C>T 0.000 -0.279 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G471A:p.G157G . . . 0.13636364 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . -0.1961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.36 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs144843412 0.065 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.065 rs4448525 rs4448525 rs77400845 rs144843412 1 1538 10 1/0 0,217,255 +. 3 75788303 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788303 75788303 Chr3(GRCh37):g.75788303C>T 471 471 NM_001128223.2:c.471G>A p.Gly157= p.Gly157Gly 5 194 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 transition G A G>A 0.000 -0.279 G Gly GGG 0.250 G Gly GGA 0.246 157 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G471A:p.G157G . . . 0.13636364 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . -0.1961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.36 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs144843412 0.065 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.065 rs4448525 rs4448525 rs77400845 rs144843412 1 1538 10 1/0 0,217,255 +rs79381924 3 75788314 T C - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788314 75788314 Chr3(GRCh37):g.75788314T>C *800 *800 NR_036235.1:n.*800T>C p.? p.? 1 rs79381924 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 1.013 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A460G:p.M154V . . . 0.38345864 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.107 . . 133.0 . . . . . . . . . . -1.1761 -1.216 -1.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.181 @ . . . 0.43 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.222 . . 0.176 . . . 0.104 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.165 . . 0.093 . . . . . . 2 0.138 . . . . . 0.161 . 0.447 . HET 1 rs79381924 0.174 0.167 . . . . . . . . . . V.13 . . 2.VII 0.859 . 0.070000 C9JSV9 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.280 0.280000 . . 0.070000 . . 1.0E-255 0.003 0.159 . 0.062 0.040 . 0.152 . 0.288 0.280 -0.267 0.17 . . rs79381924 rs148579340 1 1538 10 1/0 0,239,255 +rs79381924 3 75788314 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788314 75788314 Chr3(GRCh37):g.75788314T>C 460 460 NM_001128223.2:c.460A>G p.Met154Val p.Met154Val 5 183 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79381924 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 1.013 M Met ATG 1.000 V Val GTG 0.468 154 10 2 Northern white-cheeked gibbon 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 353.86 0.00 Tolerated 0.63 III.95 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A460G:p.M154V . . . 0.38345864 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.107 . . 133.0 . . . . . . . . . . -1.1761 -1.216 -1.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.181 @ . . . 0.43 0.35 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.222 . . 0.176 . . . 0.104 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.165 . . 0.093 . . . . . . 2 0.138 . . . . . 0.161 . 0.447 . HET 1 rs79381924 0.174 0.167 . . . . . . . . . . V.13 . . 2.VII 0.859 . 0.070000 C9JSV9 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.280 0.280000 . . 0.070000 . . 1.0E-255 0.003 0.159 . 0.062 0.040 . 0.152 . 0.288 0.280 -0.267 0.17 . . rs79381924 rs148579340 1 1538 10 1/0 0,239,255 +rs79165653 3 75788316 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788316 75788316 Chr3(GRCh37):g.75788316C>T *802 *802 NR_036235.1:n.*802C>T p.? p.? 1 rs79165653 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 0.770 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G458A:p.G153E . . . 0.36363637 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.307 . @ . . . . . 1 0.076 . . 132.0 . . . . . . . . . . -0.6392 -0.903 -0.639 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . 0.136 @ . . . 0.41 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.437 . . 0.284 . . . 0.615 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.577 . . 0.560 . . . . . . 2 0.206 . . . . . 0.136 . 0.545 . HET 0.13 rs79165653 0.141 0.152 . . . . . . . . . . 5.0085 . . 2.VII 0.0588 . 0.250000 C9JSV9 . . . . . 0.039 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.039 0.039000 . . 0.250000 . . 1.0E-255 0.011 0.184 . 0.062 0.033 . 0.260 . 0.283 0.039 -0.269 0.14 . . rs79165653 rs146102310 1 1538 10 1/0 0,239,255 +rs79165653 3 75788316 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788316 75788316 Chr3(GRCh37):g.75788316C>T 458 458 NM_001128223.2:c.458G>A p.Gly153Glu p.Gly153Glu 5 181 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs79165653 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.000 0.770 G Gly GGA 0.246 E Glu GAA 0.417 153 10 5 Opossum -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Deleterious 0.03 III.93 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G458A:p.G153E . . . 0.36363637 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.307 . @ . . . . . 1 0.076 . . 132.0 . . . . . . . . . . -0.6392 -0.903 -0.639 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . 0.136 @ . . . 0.41 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.437 . . 0.284 . . . 0.615 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.577 . . 0.560 . . . . . . 2 0.206 . . . . . 0.136 . 0.545 . HET 0.13 rs79165653 0.141 0.152 . . . . . . . . . . 5.0085 . . 2.VII 0.0588 . 0.250000 C9JSV9 . . . . . 0.039 . . . . . . . . . . . . . . . . . . . . . . 0.553 . 0.039 0.039000 . . 0.250000 . . 1.0E-255 0.011 0.184 . 0.062 0.033 . 0.260 . 0.283 0.039 -0.269 0.14 . . rs79165653 rs146102310 1 1538 10 1/0 0,239,255 +rs80085410 3 75788366 C A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788366 75788366 Chr3(GRCh37):g.75788366C>A *852 *852 NR_036235.1:n.*852C>A p.? p.? 1 rs80085410 yes no Frequency 1 C 0.000000 0 0.000530 0.000000 0.000429 0.000000 0.000341 0.000000 0.000436 0.003235 0.001835 0.003235 20 0 2 0 1 0 8 7 2 37748 6084 4664 812 2932 1644 18358 2164 1090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 2 0 1 0 8 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.035 0.851 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G408T:p.L136F . . . 0.39716312 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.096 . . 141.0 . . . . . . . . . . -0.9788 -1.096 -0.979 c . . . . . 3.736e-04 . . . 0 0.0019 0 0 0 0.0027 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.699 . . exonic exonic exonic . . 0.203 @ . . . 0.25 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.186 0.007 . . 37 . 0.541 . . 0.393 . . . 0.576 0.198 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.272 . . 0.271 . . . . . . 2 0.102 . . . . . 0.216 . 0.508 . HET 0.34 rs80085410 0.120 0.094 . . . . . . . . . . VI.26 . . II.13 I.23 . 0.700000 C9JSV9 . . . . . 0.036 . . . 0 4.26e-05 0 0 0 0 9.111e-05 0 0 0 0.0013 0.0048 0 0.0023 0.0041 0.0009 0.0046 . . 0.000 . 0.482 0.482000 . . 0.700000 . . 1.0E-255 0.000 0.063 . 0.100 0.018 . 0.009 . 0.283 0.482 -0.269 0.12 . . rs80085410 rs146603260 1 1538 10 1/0 0,238,255 +rs80085410 3 75788366 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788366 75788366 Chr3(GRCh37):g.75788366C>A 408 408 NM_001128223.2:c.408G>T p.Leu136Phe p.Leu136Phe 5 131 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs80085410 yes no Frequency 1 C 0.000000 0 0.000530 0.000000 0.000429 0.000000 0.000341 0.000000 0.000436 0.003235 0.001835 0.003235 20 0 2 0 1 0 8 7 2 37748 6084 4664 812 2932 1644 18358 2164 1090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 2 0 1 0 8 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.035 0.851 L Leu TTG 0.127 F Phe TTT 0.454 136 10 3 Rabbit 1 0 0 0 0 4.IX 5.II 111 132 22 C0 272.33 13.17 Tolerated 0.27 III.86 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G408T:p.L136F . . . 0.39716312 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.096 . . 141.0 . . . . . . . . . . -0.9788 -1.096 -0.979 c . . . . . 3.736e-04 . . . 0 0.0019 0 0 0 0.0027 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.699 . . exonic exonic exonic . . 0.203 @ . . . 0.25 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.186 0.007 . . 37 . 0.541 . . 0.393 . . . 0.576 0.198 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.272 . . 0.271 . . . . . . 2 0.102 . . . . . 0.216 . 0.508 . HET 0.34 rs80085410 0.120 0.094 . . . . . . . . . . VI.26 . . II.13 I.23 . 0.700000 C9JSV9 . . . . . 0.036 . . . 0 4.26e-05 0 0 0 0 9.111e-05 0 0 0 0.0013 0.0048 0 0.0023 0.0041 0.0009 0.0046 . . 0.000 . 0.482 0.482000 . . 0.700000 . . 1.0E-255 0.000 0.063 . 0.100 0.018 . 0.009 . 0.283 0.482 -0.269 0.12 . . rs80085410 rs146603260 1 1538 10 1/0 0,238,255 +. 3 75788403 G GT - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 duplication downstream GRCh37 75788405 75788406 Chr3(GRCh37):g.75788405dup *891 *891 NR_036235.1:n.*891dup p.? p.? 1 rs796635706 no no 0 0.000000 0 T 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.370dupA:p.T124fs . . . 0.20915033 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs140509507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,68 +. 3 75788403 G GT - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 duplication frameshift exon GRCh37 75788403 75788404 Chr3(GRCh37):g.75788404dup 370 370 NM_001128223.2:c.370dup p.Thr124Asnfs*6 p.Thr124Asnfs*6 5 93 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.05344 0 rs796635706 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.370dupA:p.T124fs . . . 0.20915033 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs140509507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,68 +. 3 75788432 T A - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788432 75788432 Chr3(GRCh37):g.75788432T>A *918 *918 NR_036235.1:n.*918T>A p.? p.? 1 transversion T A T>A 0.008 0.851 221 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A342T:p.Q114H . . . 0.21621622 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.212 . . 148.0 . . . . . . . . . . -0.7046 -0.922 -0.705 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.183 @ . . . 0.26 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.428 . . 0.259 . . . 0.354 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.548 . . 0.559 . . . . . . 2 0.349 . . . . . 0.230 . 0.501 . HET 0.11 rs143693332 . . . . . . . . . . . . VI.45 . . II.13 0.901 . 0.080000 C9JSV9 . . . . . 0.061 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.264 0.264000 . . 0.080000 . . 1.0E-221 0.001 0.137 . 0.074 0.007 . 0.100 . 0.107 0.264 -0.267 . rs11122680 rs11122680 rs74703212 rs143693332 1 1538 10 1/0 0,220,255 +. 3 75788432 T A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788432 75788432 Chr3(GRCh37):g.75788432T>A 342 342 NM_001128223.2:c.342A>T p.Gln114His p.Gln114His 5 65 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 7.09398 0 Cryptic Acceptor Strongly Activated 75788414 3.87979 0.000179 68.6264 4.61305 0.000355 68.6264 transversion A T A>T 0.008 0.851 Q Gln CAA 0.256 H His CAT 0.413 114 10 4 Rabbit 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 IV.14 221 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.A342T:p.Q114H . . . 0.21621622 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.212 . . 148.0 . . . . . . . . . . -0.7046 -0.922 -0.705 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.183 @ . . . 0.26 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.428 . . 0.259 . . . 0.354 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.328 . . 0 0 0 0 0 0 . 0.548 . . 0.559 . . . . . . 2 0.349 . . . . . 0.230 . 0.501 . HET 0.11 rs143693332 . . . . . . . . . . . . VI.45 . . II.13 0.901 . 0.080000 C9JSV9 . . . . . 0.061 . . . . . . . . . . . . . . . . . . . . . . 0.000 . 0.264 0.264000 . . 0.080000 . . 1.0E-221 0.001 0.137 . 0.074 0.007 . 0.100 . 0.107 0.264 -0.267 . rs11122680 rs11122680 rs74703212 rs143693332 1 1538 10 1/0 0,220,255 +rs4011155 3 75788434 G T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788434 75788434 Chr3(GRCh37):g.75788434G>T *920 *920 NR_036235.1:n.*920G>T p.? p.? 1 rs4011155 yes no Frequency 1 G 0.000000 0 transversion G T G>T 0.000 0.044 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C340A:p.Q114K . . . 0.36 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.071 . . 150.0 . . . . . . . . . . -0.9905 -1.127 -0.991 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.449 . . exonic exonic exonic . . 0.128 @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.223 . . 0.175 . . . 0.319 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.096 . . 0 0 0 0 0 0 . 0.371 . . 0.305 . . . . . . 2 0.020 . . . . . 0.350 . 0.546 . HET 0.75 rs4011155 0.196 0.188 . . . . . . . . . . VIII.61 . . II.13 -0.13 . 0.710000 C9JSV9 . . . . . 0.023 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.008 -0.008000 . . 0.710000 . . 1.0E-255 0.008 0.178 . 0.114 0.019 . 0.263 . 0.288 -0.008 0.562 0.2 rs4011155 rs4011155 rs77608525 rs111690488 1 1538 10 1/0 0,232,255 +rs4011155 3 75788434 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788434 75788434 Chr3(GRCh37):g.75788434G>T 340 340 NM_001128223.2:c.340C>A p.Gln114Lys p.Gln114Lys 5 63 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.95567 6.87616 0 rs4011155 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.000 0.044 Q Gln CAA 0.256 K Lys AAA 0.425 114 10 4 Rabbit 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 0.1 IV.14 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.C340A:p.Q114K . . . 0.36 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.071 . . 150.0 . . . . . . . . . . -0.9905 -1.127 -0.991 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.449 . . exonic exonic exonic . . 0.128 @ . . . 0.28 0.19 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.223 . . 0.175 . . . 0.319 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.096 . . 0 0 0 0 0 0 . 0.371 . . 0.305 . . . . . . 2 0.020 . . . . . 0.350 . 0.546 . HET 0.75 rs4011155 0.196 0.188 . . . . . . . . . . VIII.61 . . II.13 -0.13 . 0.710000 C9JSV9 . . . . . 0.023 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.008 -0.008000 . . 0.710000 . . 1.0E-255 0.008 0.178 . 0.114 0.019 . 0.263 . 0.288 -0.008 0.562 0.2 rs4011155 rs4011155 rs77608525 rs111690488 1 1538 10 1/0 0,232,255 +rs74485599 3 75788484 A G - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788484 75788484 Chr3(GRCh37):g.75788484A>G *970 *970 NR_036235.1:n.*970A>G p.? p.? 1 rs74485599 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.000 1.658 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T290C:p.I97T . . . 0.42372882 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.083 . . 118.0 . . . . . . . . . . -1.2771 -1.314 -1.277 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.170 @ . . . 0.29 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.144 . . 0.306 . . . 0.084 0.218 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.119 . . 0.121 . . . . . . 2 0.302 . . . . . 0.150 . 0.660 . HET 0.03 rs74485599 0.109 0.080 . . . . . . . . . . V.05 . . I.88 0.666 . 0.440000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.219 0.219000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.043 0.178 . 0.098 . 0.281 0.219 -0.542 0.11 . . rs74485599 rs140451185 1 1538 10 1/0 0,250,255 +rs74485599 3 75788484 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75788484 75788484 Chr3(GRCh37):g.75788484A>G 290 290 NM_001128223.2:c.290T>C p.Ile97Thr p.Ile97Thr 5 13 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.965585 7.21037 0.00345831 rs74485599 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.000 1.658 I Ile ATT 0.356 T Thr ACT 0.243 97 10 3 Rabbit -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.13 IV.32 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.T290C:p.I97T . . . 0.42372882 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.083 . . 118.0 . . . . . . . . . . -1.2771 -1.314 -1.277 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.170 @ . . . 0.29 0.22 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.144 . . 0.306 . . . 0.084 0.218 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.119 . . 0.121 . . . . . . 2 0.302 . . . . . 0.150 . 0.660 . HET 0.03 rs74485599 0.109 0.080 . . . . . . . . . . V.05 . . I.88 0.666 . 0.440000 C9JSV9 . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 0.219 0.219000 . . 0.440000 . . 1.0E-255 0.000 0.063 . 0.043 0.178 . 0.098 . 0.281 0.219 -0.542 0.11 . . rs74485599 rs140451185 1 1538 10 1/0 0,250,255 +rs111354562 3 75788489 C T - MIR4273 38339 MicroRNA 4273 NR_036235.1 1 84 0 substitution downstream GRCh37 75788489 75788489 Chr3(GRCh37):g.75788489C>T *975 *975 NR_036235.1:n.*975C>T p.? p.? 1 rs111354562 no no 0 C 0.000000 0 transition C T C>T 0.000 -0.440 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G285A:p.Q95Q . . . 0.13793103 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . -0.1319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs111354562 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.033 rs4847466 rs4847466 rs111354562 rs111354562 1 1538 10 1/0 0,223,255 +rs111354562 3 75788489 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75788489 75788489 Chr3(GRCh37):g.75788489C>T 285 285 NM_001128223.2:c.285G>A p.Gln95= p.Gln95Gln 5 8 3' 91.5892 9.84865 0.95567 7.05344 91.5892 9.84865 0.932962 6.96178 -0.00792045 rs111354562 no no 0 C 0.000000 0 transition G A G>A 0.000 -0.440 Q Gln CAG 0.744 Q Gln CAA 0.256 95 191 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon5:c.G285A:p.Q95Q . . . 0.13793103 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . -0.1319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.28 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs111354562 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.033 rs4847466 rs4847466 rs111354562 rs111354562 1 1538 10 1/0 0,223,255 +rs1971517 3 75790444 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790444 75790444 Chr3(GRCh37):g.75790444G>A 260 260 NM_001128223.2:c.260C>T p.Pro87Leu p.Pro87Leu 4 -18 5' 90.1175 8.94121 0.964341 4.93536 90.1175 8.94121 0.964341 4.403 0 Krueppel-associated box rs1971517 yes no Frequency 1 A 0.000000 0 transition C T C>T 0.000 0.770 P Pro CCA 0.274 L Leu CTA 0.070 87 10 2 Northern white-cheeked gibbon -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 1 IV.32 213 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.C260T:p.P87L . . . 0.19379845 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.112 . @ . . . . . 1 0.016 . . 129.0 . . . . . . . . . . -0.9715 -0.977 -0.971 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.389 . . exonic exonic exonic . . 0.252 @ . . . 0.25 0.23 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.032 0.002 . . 37 . 0.082 . . 0.038 . . . 0.307 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.397 . . 0 0 0 0 0 0 . 0.375 . . 0.241 . . . . . . 1 0.108 . . . . . 0.118 . 0.670 . HET 0.23 rs141084845 0.293 0.297 . . . . . . . . . . IV.33 . . I.97 I.97 . 0.310000 C9JSV9 . . . . . 0.047 . . . . . . . . . . . . . . . . . . . . . . 0.310 . 1.127 1.127000 . . 0.310000 . . 1.0E-213 0.126 0.231 . 0.083 0.016 . 0.462 . 0.295 1.127 0.562 0.29 rs1971517 rs1971517 rs1971517 rs141084845 1 1538 10 1/0 0,223,255 +rs79202307 3 75790446 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790446 75790446 Chr3(GRCh37):g.75790446G>T 258 258 NM_001128223.2:c.258C>A p.Thr86= p.Thr86Thr 4 -20 5' 90.1175 8.94121 0.964341 4.93536 90.1175 8.94121 0.964341 5.06897 0 Krueppel-associated box rs79202307 yes no Frequency/1000G 2 G 0.000000 0 transversion C A C>A 0.000 -0.117 T Thr ACC 0.361 T Thr ACA 0.280 86 221 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.C258A:p.T86T . . . 0.21538462 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.1961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0034 . . . 0.23 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79202307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs79202307 rs79202307 1 1538 10 1/0 0,225,255 +rs76526276 3 75790447 G A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790447 75790447 Chr3(GRCh37):g.75790447G>A 257 257 NM_001128223.2:c.257C>T p.Thr86Ile p.Thr86Ile 4 -21 5' 90.1175 8.94121 0.964341 4.93536 90.1175 8.94121 0.964341 4.93816 0 Krueppel-associated box rs76526276 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.763 T Thr ACC 0.361 I Ile ATC 0.481 86 10 2 Northern white-cheeked gibbon -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0.04 IV.32 226 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.C257T:p.T86I . . . 0.23134328 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.043 . @ . . . . . 1 0.041 . . 134.0 . . . . . . . . . . -1.5383 -1.631 -1.538 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.481 . . exonic exonic exonic . . 0.042 @ . . . 0.22 0.25 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.215 . . 0.200 . . . 0.027 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.291 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.151 . . . . . 0.072 . 0.673 . HET 0.3 rs76526276 . . . . . . . . . . . . III.51 . . I.97 -3.64 . 0.490000 C9JSV9 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.321 . -0.756 -0.756000 . . 0.490000 . . 1.0000000000000001E-226 0.000 0.063 . 0.016 0.012 . 0.019 . 0.012 -0.756 -0.628 . . . rs76526276 rs76526276 1 1538 10 1/0 0,225,255 +rs78571006 3 75790466 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790466 75790466 Chr3(GRCh37):g.75790466G>T 238 238 NM_001128223.2:c.238C>A p.Pro80Thr p.Pro80Thr 4 -40 5' 90.1175 8.94121 0.964341 4.93536 90.1175 8.94121 0.964341 4.79467 0 Krueppel-associated box rs78571006 no no 0 G 0.000000 0 transversion C A C>A 0.008 0.609 P Pro CCA 0.274 T Thr ACA 0.280 80 10 2 Northern white-cheeked gibbon -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Deleterious 0 IV.32 241 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.C238A:p.P80T . . . 0.27659574 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.513 . @ . . . . . 1 0.601 . . 141.0 . . . . . . . . . . -0.4730 -0.618 -0.473 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.540 . . exonic exonic exonic . . 0.252 @ . . . 0.25 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.071 0.003 . . 37 . 0.516 . . 0.510 . . . 0.836 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.956 . . 0 0 0 0 0 0 . 0.314 . . 0.166 . . . . . . 1 0.912 . . . . . 0.177 . 0.689 . HET 0.18 rs78571006 0.076 0.065 . . . . . . . . . . V.12 . . I.97 I.97 . 0.120000 C9JSV9 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.988 . 1.127 1.127000 . . 0.120000 . . 1.0E-241 0.001 0.137 . 0.321 0.011 . 0.181 . 0.295 1.127 -0.628 0.076 . . rs78571006 rs112190249 1 1538 10 1/0 0,227,255 +rs79902868 3 75790479 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790479 75790479 Chr3(GRCh37):g.75790479C>T 225 225 NM_001128223.2:c.225G>A p.Glu75= p.Glu75Glu 4 41 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.26937 0.699025 4.58424 0 Krueppel-associated box rs79902868 no no 0 C 0.000000 0 transition G A G>A 0.992 1.416 E Glu GAG 0.583 E Glu GAA 0.417 75 255 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon4:c.G225A:p.E75E . . . 0.38513514 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 148.0 . . . . . . . . . . 0.5560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.31 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79902868 0.163 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs79902868 rs112692235 1 1538 10 1/0 0,236,255 +. 3 75790527 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790527 75790527 Chr3(GRCh37):g.75790527T>C 185-8 185-8 NM_001128223.2:c.185-8A>G p.? p.? 4 3 -8 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.27537 0.800246 4.82261 0.0484835 transition A G A>G 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.38297874 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 141.0 . . . . . . . . . . -0.2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs144222217 0.196 0.210 . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 . . rs75965304 rs144222217 1 1538 10 1/0 0,236,255 +rs80086365 3 75790542 G T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790542 75790542 Chr3(GRCh37):g.75790542G>T 185-23 185-23 NM_001128223.2:c.185-23C>A p.? p.? 4 3 -23 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.26937 0.699025 4.38523 0 rs80086365 no no 0 G 0.000000 0 transversion C A C>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.7518797 . . @ 100 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.1488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.26 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs80086365 0.435 0.428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.43 . . rs80086365 rs141840121 1 1538 10 1/0 0,252,248 +rs73843029 3 75790585 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790585 75790585 Chr3(GRCh37):g.75790585C>G 185-66 185-66 NM_001128223.2:c.185-66G>C p.? p.? 4 3 -66 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.26937 0.699025 4.52486 0 rs73843029 no no 0 C 0.000000 0 transversion G C G>C 0.039 1.416 251 PASS . . . . . . . . . . . . . . . . 0.61 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . -0.1902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.3 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73843029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . rs73843029 rs73843029 rs147758847 1 1538 10 1/0 0,255,255 +rs76935257 3 75790607 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790607 75790607 Chr3(GRCh37):g.75790607C>T 185-88 185-88 NM_001128223.2:c.185-88G>A p.? p.? 4 3 -88 3' 91.7773 9.26937 0.699025 4.49943 91.7773 9.26937 0.699025 4.49943 0 rs76935257 no no 0 C 0.000000 0 transition G A G>A 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.6888889 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . -0.2959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.24 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76935257 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 . . rs76935257 rs144075336 1 1538 10 1/0 0,255,255 +rs2918520 3 75790822 A G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790822 75790822 Chr3(GRCh37):g.75790822A>G 123 123 NM_001128223.2:c.123T>C p.Asp41= p.Asp41Asp 3 -62 5' 82.5488 8.73118 0.983642 4.37288 82.5488 8.73118 0.983642 4.61614 0 Krueppel-associated box rs2918520 yes no Frequency/HapMap 2 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60992 3946 6198 2428 2716 6356 29872 8298 1178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes transition T C T>C 0.000 -0.521 D Asp GAT 0.461 D Asp GAC 0.539 41 230 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.T123C:p.D41D . . . 0.24324325 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 148.0 . . . . . . . . . . -0.4428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.49 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs147081315 0.185 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . 0.18 rs2918520 rs2918520 rs2918520 rs147081315 1 1538 10 1/0 0,222,255 +rs75811170 3 75790837 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790837 75790837 Chr3(GRCh37):g.75790837C>A 108 108 NM_001128223.2:c.108G>T p.Trp36Cys p.Trp36Cys 3 51 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.59941 0 Krueppel-associated box rs75811170 no no 0 C 0.000000 0 transversion G T G>T 0.992 1.577 W Trp TGG 1.000 C Cys TGT 0.448 36 10 1 -5 -2 -5 0.13 II.75 5.IV 5.V 170 55 215 C0 353.86 0.00 Tolerated 0.08 IV.32 132 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.G108T:p.W36C . . . 0.23809524 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.763 . @ . . . . . 1 0.377 . . 147.0 . . . . . . . . . . 0.2921 0.018 0.292 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.102 . . exonic exonic exonic . . 0.205 @ . . . 0.58 0.46 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.467 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.179 0.007 . . 37 . 0.380 . . 0.391 . . . 0.944 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.998 . . 0 0 0 0 0 0 . 0.764 . . 0.764 . . . . . . 1 0.912 . . . . . 0.302 . 0.677 . HET 0 rs75811170 0.130 0.101 CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000066188.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066188.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000066188.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000066188.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . 8.1688 . . I.27 I.27 . 0.000000 C9JSV9 . . . . . 0.192 . . . . . . . . . . . . . . . . . . . . . . 0.730 . 0.690 0.690000 . . 0.000000 . . 1.0E-132 0.946 0.326 . 0.266 0.467 . 0.408 . 0.278 0.690 0.542 0.13 . . rs75811170 . 1 1538 10 1/0 0,231,255 +rs73117241 3 75790860 C G - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790860 75790860 Chr3(GRCh37):g.75790860C>G 85 85 NM_001128223.2:c.85G>C p.Val29Leu p.Val29Leu 3 28 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.23347 0 Krueppel-associated box rs73117241 no no 0 C 0.000000 0 transversion G C G>C 0.984 1.497 V Val GTG 0.468 L Leu CTG 0.404 29 10 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.36 IV.32 190 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.G85C:p.V29L . . . 0.20472442 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.531 . @ . . . . . 1 0.435 . . 127.0 . . . . . . . . . . -0.1828 -0.515 -0.183 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.041 . . exonic exonic exonic . . 0.197 @ . . . 0.54 0.41 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.083 0.004 . . 37 . 0.213 . . 0.027 . . . 0.838 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.612 . . 0 0 0 0 0 0 . 0.568 . . 0.636 . . . . . . 1 0.784 . . . . . 0.287 . 0.625 . HET 0.03 . . . . . . . . . . . . . VII.79 . . I.14 I.14 . 0.040000 C9JSV9 . . . . . 0.050 . . . . . . . . . . . . . . . . . . . . . . 0.498 . 0.607 0.607000 . . 0.040000 . . 1.0E-190 0.000 0.063 . 0.173 0.819 . 0.042 . 0.278 0.607 0.542 . . . . . 1 1538 10 1/0 0,227,255 +rs75271400 3 75790864 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790864 75790864 Chr3(GRCh37):g.75790864T>C 81 81 NM_001128223.2:c.81A>G p.Val27= p.Val27Val 3 24 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.97516 0 Krueppel-associated box rs75271400 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.969 -0.198 V Val GTA 0.114 V Val GTG 0.468 27 219 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.A81G:p.V27V . . . 0.21153846 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.3427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.46 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . rs75271400 rs75271400 1 1538 10 1/0 0,234,255 +rs77644642 3 75790867 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution missense exon GRCh37 75790867 75790867 Chr3(GRCh37):g.75790867C>A 78 78 NM_001128223.2:c.78G>T p.Glu26Asp p.Glu26Asp 3 21 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 II.77 0 Krueppel-associated box rs77644642 yes no Frequency 1 C 0.000000 0 0.000697 0.000190 0.000646 0.000921 0.000000 0.000342 0.001166 0.000290 0.000000 0.001166 28 1 2 1 0 1 21 2 0 40172 5276 3094 1086 1988 2926 18014 6890 898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 1 2 1 0 1 21 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.969 0.125 E Glu GAG 0.583 D Asp GAT 0.461 26 10 1 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.34 IV.32 197 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.G78T:p.E26D . . . 0.15315315 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.044 . . 111.0 . . . . . . . . . . -2.1209 -2.052 -2.121 c . . . . . 1.977e-03 . . . 0.0017 0.0008 0 0 0 0.0008 0 0.0009 0.0027 0.0007 0 0 0 0.0006 0 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.064 @ . . . 0.55 0.4 182 ENSG00000227124 ZNF717 ZNF717 . . . 1.000 0.489 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.148 0.006 . . 37 . 0.001 . . 0.443 . . . 0.000 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 1 0.010 . . . . . 0.137 . 0.634 . HET 1 rs773440409 . . . . . . . . . . . . 5.0491 . . I.14 -2.29 . 1.000000 C9JSV9 . . . . . 0.016 . . . 0.0005 0.0009 0.0007 0.0010 0 0.0002 0.0015 0 0.0003 0 0.0003 0 0 0 0.0007 0.0004 0 . . 0.498 . -0.705 -0.705000 . . 1.000000 . . 1.0E-197 0.056 0.214 . 0.090 0.591 . 0.039 . 0.039 -0.705 -0.609 . . . rs77644642 rs77644642 1 1538 10 1/0 0,227,255 +rs78652530 3 75790870 C T - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution synonymous exon GRCh37 75790870 75790870 Chr3(GRCh37):g.75790870C>T 75 75 NM_001128223.2:c.75G>A p.Glu25= p.Glu25Glu 3 18 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.321847 2.41661 -0.111328 New Acceptor Site 75790868 2.37257 0.044107 74.442 Krueppel-associated box rs78652530 yes no Frequency 1 C 0.000000 0 0.000526 0.000383 0.000355 0.000000 0.000000 0.000000 0.000870 0.000302 0.000000 0.000870 20 2 1 0 0 0 15 2 0 38000 5216 2820 878 1922 2456 17234 6616 858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 2 1 0 0 0 15 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.913 0.286 E Glu GAG 0.583 E Glu GAA 0.417 25 202 PASS . . . . . . . . . . . . ZNF717:uc011bgi.2:exon3:c.G75A:p.E25E . . . 0.16504854 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.1572 . . . . . . . . 1.201e-03 . . . 0.0018 0.0005 0 0 0 0 0 0.0012 0.0028 0.0005 0 0 0 0 0 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.38 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs760841671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0007 0.0004 0 0 0.0004 0.0012 0 0 0.0003 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs78652530 rs78652530 1 1538 10 1/0 0,231,255 +rs879013321 3 75790907 T C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790907 75790907 Chr3(GRCh37):g.75790907T>C 58-20 58-20 NM_001128223.2:c.58-20A>G p.? p.? 3 2 -20 3' 85.806 V.81 0.483242 2.43047 85.806 4.04615 0.550264 0 -0.0367882 rs879013321 no no 0 T 0.000000 0 transition A G A>G 0.717 0.205 196 PASS . . . . . . . . . . . ENSG00000227124:ENST00000400845:exon3:c.A17G:p.N6S . . . . 0.14851485 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . -0.8206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.43 . ENST00000400845 0.647 0.647 . 0.740000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.556 0.556000 . . 0.740000 . . 1.0E-196 . . . . . . . . . 0.556 . . . . . . 1 1538 10 1/0 0,230,255 +. 3 75790920 G C - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790920 75790920 Chr3(GRCh37):g.75790920G>C 58-33 58-33 NM_001128223.2:c.58-33C>G p.? p.? 3 2 -33 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.04704 0 transversion C G C>G 0.984 0.125 227 PASS . . . . . . . . . . . ENSG00000227124:ENST00000400845:exon3:c.C4G:p.L2V . . . . 0.23308271 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.6080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.25 0.21 182 ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . III.78 . ENST00000400845 0.647 0.647 . 0.140000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.666 0.666000 . . 0.140000 . . 1.0000000000000001E-227 . . . . . . . . . 0.666 . . . . rs75752644 rs75752644 1 1538 10 1/0 0,226,255 +rs796680022 3 75790921 C A - ZNF717 29448 Zinc finger protein 717 NM_001128223.2 -1 2966 2745 NP_001121695.1 substitution intron GRCh37 75790921 75790921 Chr3(GRCh37):g.75790921C>A 58-34 58-34 NM_001128223.2:c.58-34G>T p.? p.? 3 2 -34 3' 85.806 V.81 0.483242 2.43047 85.806 V.81 0.483242 2.50628 0 Cryptic Donor Strongly Activated 75790927 0.003722 64.6084 1.43417 0.106505 69.6272 rs796680022 no no 0 C 0.000000 0 transversion G T G>T 0.992 0.286 195 PASS . . . . . . . . . . . ENSG00000227124:ENST00000400845:exon3:c.G3T:p.M1I . . . . 0.14615385 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.5412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000227124 ZNF717 ZNF717 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . 3.0728 . ENST00000400845 0.647 0.647 . 0.090000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.666 0.666000 . . 0.090000 . . 9.999999999999999E-196 . . . . . . . . . 0.666 . . . . . . 1 1538 10 1/0 0,219,255 +rs77101234 3 75986813 T A - ROBO2 10250 Roundabout guidance receptor 2 NM_001290040.1 1 8884 4332 NP_001276969.1 substitution upstream GRCh37 75986813 75986813 Chr3(GRCh37):g.75986813T>A -1103124 -1103124 NM_001290040.1:c.-1103124T>A p.? p.? 1 602431 -1103185 5' 91.1822 11.0134 0.995718 II.03 91.1822 11.0134 0.995718 II.03 0 rs77101234 no no 0 T 0.000000 0 transversion T A T>A 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.60215056 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . 0.37 0.18 182 ENSG00000185008 ROBO2 . . . dist\x3d152079\x3bdist\x3d1102481 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs77101234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77101234 rs77101234 1 1538 10 1/0 0,255,255 +rs73123284 3 75986833 C T - ROBO2 10250 Roundabout guidance receptor 2 NM_001290040.1 1 8884 4332 NP_001276969.1 substitution upstream GRCh37 75986833 75986833 Chr3(GRCh37):g.75986833C>T -1103104 -1103104 NM_001290040.1:c.-1103104C>T p.? p.? 1 602431 -1103165 5' 91.1822 11.0134 0.995718 II.03 91.1822 11.0134 0.995718 II.03 0 Cryptic Acceptor Strongly Activated 75986844 2.07935 0.000425 66.8163 2.85199 0.00081 70.9182 rs73123284 yes no Frequency/1000G 2 C 0.000000 0 transition C T C>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.5416667 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . 0.26 0.2 182 ENSG00000185008 ROBO2 . . . dist\x3d152099\x3bdist\x3d1102461 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs73123284 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73123284 rs73123284 rs73123284 1 1538 10 1/0 0,255,255 +rs75670471 3 75986858 T C - ROBO2 10250 Roundabout guidance receptor 2 NM_001290040.1 1 8884 4332 NP_001276969.1 substitution upstream GRCh37 75986858 75986858 Chr3(GRCh37):g.75986858T>C -1103079 -1103079 NM_001290040.1:c.-1103079T>C p.? p.? 1 602431 -1103140 5' 91.1822 11.0134 0.995718 II.03 91.1822 11.0134 0.995718 II.03 0 rs75670471 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 transition T C T>C 0.000 -0.117 217 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.20833333 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . 0.0002 . . . 0.31 0.17 182 ENSG00000185008 ROBO2 . . . dist\x3d152124\x3bdist\x3d1102436 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs75670471 0.196 0.254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . 0.2 . . rs75670471 rs75670471 1 1538 10 1/0 0,255,255 +rs79216754 3 75986863 C G - ROBO2 10250 Roundabout guidance receptor 2 NM_001290040.1 1 8884 4332 NP_001276969.1 substitution upstream GRCh37 75986863 75986863 Chr3(GRCh37):g.75986863C>G -1103074 -1103074 NM_001290040.1:c.-1103074C>G p.? p.? 1 602431 -1103135 5' 91.1822 11.0134 0.995718 II.03 91.1822 11.0134 0.995718 II.03 0 rs79216754 no no 0 C 0.000000 0 transversion C G C>G 0.000 -0.924 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . 0.23 0.17 182 ENSG00000185008 ROBO2 . . . dist\x3d152129\x3bdist\x3d1102431 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs79216754 0.196 0.254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . 0.2 . . rs79216754 rs79216754 1 1538 10 1/0 0,255,255 +. (chr3:80491250 G/A) 3 80491250 G A Not on a known gene +rs77357280 3 85434950 C T - CADM2 29849 Cell adhesion molecule 2 NM_153184.3 1 8960 1314 NP_694854.2 substitution upstream GRCh37 85434950 85434950 Chr3(GRCh37):g.85434950C>T -340682 -340682 NM_153184.3:c.-340682C>T p.? p.? 1 609938 -340749 5' 89.5524 9.59704 0.95928 5.44852 89.5524 9.59704 0.95928 5.44852 0 rs77357280 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.440 225 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.3030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.14 182 ENSG00000175161 CADM2 CADM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77357280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs77357280 rs77357280 1 1538 10 1.I 0,0,0 +rs77357280 3 85434950 C T - MIR5688 43463 MicroRNA 5688 NR_049870.1 1 83 0 substitution downstream GRCh37 85434950 85434950 Chr3(GRCh37):g.85434950C>T *8 *8 NR_049870.1:n.*8C>T p.? p.? 1 rs77357280 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.440 225 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.3030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.14 182 ENSG00000175161 CADM2 CADM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77357280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs77357280 rs77357280 1 1538 10 1.I 0,0,0 +. 3 85434950 C CGTT - CADM2 29849 Cell adhesion molecule 2 NM_153184.3 1 8960 1314 NP_694854.2 insertion upstream GRCh37 85434950 85434951 Chr3(GRCh37):g.85434950_85434951insGTT -340682 -340681 NM_153184.3:c.-340682_-340681insGTT p.? p.? 1 609938 -340748 5' 89.5524 9.59704 0.95928 5.44852 89.5524 9.59704 0.95928 5.44852 0 GTT 255 Pass . . . . . . . . . . . . . . . . 0.7307692 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000175161 CADM2 CADM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,14 +. 3 85434950 C CGTT - MIR5688 43463 MicroRNA 5688 NR_049870.1 1 83 0 insertion downstream GRCh37 85434950 85434951 Chr3(GRCh37):g.85434950_85434951insGTT *8 *9 NR_049870.1:n.*8_*9insGTT p.? p.? 1 GTT 255 Pass . . . . . . . . . . . . . . . . 0.7307692 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000175161 CADM2 CADM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,14 +. 3 89521838 T A - EPHA3 3387 EPH receptor A3 NM_005233.5 1 5809 2952 NP_005224.2 P29320 substitution intron GRCh37 89521838 89521838 Chr3(GRCh37):g.89521838T>A 2846+69 2846+69 NM_005233.5:c.2846+69T>A p.? p.? 16 16 179611 69 5' 73.2676 5.73188 0.739206 0 73.2676 5.73188 0.739206 0 0 transversion T A T>A 0.000 -1.247 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 6.0 . . INTRON(MODIFIER||||EPHA3|mRNA|CODING|NM_005233|) . . . . . . . -0.7882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000044524 EPHA3 EPHA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 3 89521840 T A - EPHA3 3387 EPH receptor A3 NM_005233.5 1 5809 2952 NP_005224.2 P29320 substitution intron GRCh37 89521840 89521840 Chr3(GRCh37):g.89521840T>A 2846+71 2846+71 NM_005233.5:c.2846+71T>A p.? p.? 16 16 179611 71 5' 73.2676 5.73188 0.739206 0 73.2676 5.73188 0.739206 0 0 transversion T A T>A 0.000 -1.247 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 6.0 . . INTRON(MODIFIER||||EPHA3|mRNA|CODING|NM_005233|) . . . . . . . -0.7757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000044524 EPHA3 EPHA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 3 89521841 G T - EPHA3 3387 EPH receptor A3 NM_005233.5 1 5809 2952 NP_005224.2 P29320 substitution intron GRCh37 89521841 89521841 Chr3(GRCh37):g.89521841G>T 2846+72 2846+72 NM_005233.5:c.2846+72G>T p.? p.? 16 16 179611 72 5' 73.2676 5.73188 0.739206 0 73.2676 5.73188 0.739206 0 0 transversion G T G>T 0.000 -0.117 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 6.0 . . INTRON(MODIFIER||||EPHA3|mRNA|CODING|NM_005233|) . . . . . . . -0.3439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000044524 EPHA3 EPHA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs62269700 3 97852058 A G - OR5H1 8346 Olfactory receptor, family 5, subfamily H, member 1 NM_001005338.1 1 942 942 NP_001005338.1 A6NKK0 substitution missense exon GRCh37 97852058 97852058 Chr3(GRCh37):g.97852058A>G 517 517 NM_001005338.1:c.517A>G p.Ile173Val p.Ile173Val 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs62269700 yes no Frequency 1 A 0.000000 0 0.001079 0.001206 0.000577 0.000206 0.000426 0.000034 0.000889 0.005210 0.000340 0.005210 272 25 18 2 7 1 104 113 2 252010 20726 31188 9724 16430 29328 117034 21690 5890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 272 25 18 2 7 1 104 113 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5915199 Skin 0.001623 1232 transition A G A>G 0.000 -0.360 I Ile ATA 0.163 V Val GTA 0.114 173 11 9 Cow 3 3 4 0 0 5.II 5.IX 111 84 29 C0 28.68 0.00 Tolerated 0.3 III.83 good 1.964E-1 0.001321 199 PASS . . . . . . . . . . . ENSG00000231192:ENST00000354565:exon1:c.A517G:p.I173V OR5H1:uc011bgt.2:exon1:c.A517G:p.I173V OR5H1:NM_001005338:exon1:c.A517G:p.I173V . . 0.1590909 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.050 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I173V|OR5H1|mRNA|CODING|NM_001005338|NM_001005338.ex.1) . . . . . . . -1.5525 -1.605 -1.553 c . . . . . 6.303e-03 . . . 0.0142 0.0065 0.0026 0.0097 0.0029 0.0081 0.0087 0.0009 0.0076 0.0020 0.0021 0.0048 0.0017 0.0011 0 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.001 . . exonic exonic exonic . . 0.042 @ . . . 0.15 0.14 182 ENSG00000231192 OR5H1 OR5H1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.276 . . . . . . . . . 37 . 0.001 . . 0.434 . . . 0.037 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.095 . . 0 0 0 0 0 0 . 0.144 . . 0.227 . . . . . . 0 0.040 . . . . . 0.136 . 0.052 . HET 0.52 rs62269700 . . . . . . . . . . . . 5.0254 5.39E-4 ENST00000354565 III.57 -3.64 . 1.000000 A6NKK0 . . . . . 0.028 . . . 0.0015 0.0012 0.0006 0.0002 0.0005 0.0059 0.0010 0.0004 3.41e-05 0.0006 0.0004 0 0 0 0.0009 0.0002 0 . . 0.133 . -1.039 -1.039000 . . 1.000000 . . 1.0E-199 0.000 0.063 . 0.341 0.608 . 0.035 . 0.080 -1.039 0.069 . rs62269700 rs62269700 rs62269700 rs62269700 1 1538 10 1/0 0,255,255 +rs62269701 3 97852066 T C - OR5H1 8346 Olfactory receptor, family 5, subfamily H, member 1 NM_001005338.1 1 942 942 NP_001005338.1 A6NKK0 substitution synonymous exon GRCh37 97852066 97852066 Chr3(GRCh37):g.97852066T>C 525 525 NM_001005338.1:c.525T>C p.His175= p.His175His 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs62269701 yes no Frequency 1 T 0.000000 0 0.001081 0.002753 0.000482 0.000103 0.000365 0.000034 0.000760 0.004848 0.000000 0.004848 271 54 15 1 6 1 89 105 0 250736 19614 31102 9714 16420 29286 117062 21660 5878 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 271 54 15 1 6 1 89 105 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.685 0.205 H His CAT 0.413 H His CAC 0.587 175 196 PASS . . . . . . . . . . . ENSG00000231192:ENST00000354565:exon1:c.T525C:p.H175H OR5H1:uc011bgt.2:exon1:c.T525C:p.H175H OR5H1:NM_001005338:exon1:c.T525C:p.H175H . . 0.1521739 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|caT/caC|H175|OR5H1|mRNA|CODING|NM_001005338|NM_001005338.ex.1) . . . . . . . 0.4023 . . . . . . . . 6.682e-03 . . . 0.0185 0.0070 0.0025 0.0097 0.0030 0.0082 0.0102 0.0009 0.0098 0.0021 0.0021 0.0048 0.0017 0.0011 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.16 182 ENSG00000231192 OR5H1 OR5H1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62269701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0011 0.0005 0.0001 0.0004 0.0055 0.0009 0 3.415e-05 0.0029 0.0009 0 0 0 0.0009 7.213e-05 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs62269701 rs62269701 rs62269701 rs62269701 1 1538 10 1/0 0,255,255 +rs200654905 3 98188554 T C - OR5K1 8349 Olfactory receptor, family 5, subfamily K, member 1 NM_001004736.3 1 1097 927 NP_001004736.2 Q8NHB7 substitution missense exon GRCh37 98188554 98188554 Chr3(GRCh37):g.98188554T>C 134 134 NM_001004736.3:c.134T>C p.Leu45Ser p.Leu45Ser 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs200654905 yes no Frequency/1000G 2 T 0.000000 0 0.002995 0.000800 0.003100 0.000000 0.007000 0.005800 0.006978 0.000708 0.004368 0.001478 0.000000 0.003184 0.010890 0.007871 0.010984 0.010890 1933 17 150 15 0 98 1379 203 71 277010 24026 34342 10148 18828 30780 126632 25790 6464 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 7 0 0 0 0 0 7 0 0 1919 17 150 15 0 98 1365 203 71 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8497 4401 12898 101 5 106 0.0117469 0.00113482 0.00815134 0.0117469 0.00113482 0.00815134 219 transition T C T>C 0.150 2.788 L Leu TTG 0.127 S Ser TCG 0.056 45 11 10 Armadillo -3 -2 -4 0 I.42 4.IX 9.II 111 32 145 C55 14.30 134.86 Deleterious 0 IV.32 255 PASS . 0.0032 0.01 . 0.004 0.0008 0.003 0.0058 . 0.007 0.0031 ENSG00000232382:ENST00000332650:exon1:c.T134C:p.L45S OR5K1:uc003dsm.3:exon1:c.T134C:p.L45S OR5K1:NM_001004736:exon1:c.T134C:p.L45S . . 0.45701358 . . @ 101 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.209 . @ . . . . . 1 0.573 . . 221.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tCg|L45S|OR5K1|mRNA|CODING|NM_001004736|NM_001004736.ex.1) 0.0011 0.0082 0.012 0.0011 0.0082 0.012 . -0.0037 -0.173 -0.004 c . . . . . 6.511e-03 . . . 0.0011 0.0063 0.0034 0 0.0066 0.0103 0.0084 0.0034 0.0007 0.0060 0.0034 0 0.0071 0.0089 0.0072 0.0034 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.457 0.0030 . . . 0.34 0.3 182 ENSG00000232382 OR5K1 OR5K1 . . . 0.070 0.155 . 481 0.00740273 64976 466 0.00776848 59986 Uncertain_significance . 0 . 0.202 . . . . . . . . . 37 . 0.011 . . 0.231 . . . 0.930 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.878 . . 0 0 0 0 0 0 . 0.497 . . 0.535 . . . . . . 0 0.912 . . . . . 0.438 . 0.321 . HET 0 rs200654905 . . . . . . . 0.003205128205128205 0.0 0.011049723756906077 0.0 0.00395778364116095 10.501 5.35E-4 ENST00000332650 V.18 4.I . 0.000000 Q8NHB7 . . . 0.008151 . 0.540 . . 4.I 0.0007 0.0069 0.0043 0.0015 0 0.0081 0.0106 0.0111 0.0032 0.0007 0.0078 0.0060 0 0 0.0063 0.0131 0.0102 . . 0.133 . 0.800 0.800000 . . 0.000000 . . 1.0E-255 0.583 0.274 . 0.043 0.113 . 0.597 . 0.212 0.800 0.991 0.012 . . rs200654905 rs200654905 1 1538 10 1/0 0,221,242 +rs192862595 3 100023651 G A - TBC1D23 25622 TBC1 domain family, member 23 NM_001199198.2 1 3886 2100 NP_001186127.1 Q9NUY8 substitution intron GRCh37 100023651 100023651 Chr3(GRCh37):g.100023651G>A 1264-39 1264-39 NM_001199198.2:c.1264-39G>A p.? p.? 12 11 617687 -39 3' 91.2668 9.29613 0.961567 2.15828 91.2668 9.29613 0.961567 2.11892 0 rs192862595 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000583 0.000127 0.000249 0.000000 0.000000 0.000035 0.001145 0.000040 0.000483 0.001145 154 3 8 0 0 1 138 1 3 264126 23552 32144 9928 18138 28580 120508 25064 6212 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 152 3 8 0 0 1 136 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4402 12985 9 0 9 0.00104749 0 0.000692627 0.00104749 0 0.000692627 47 transition G A G>A 0.000 0.044 233 PASS . 0.0009 . . 0.0026 . 0.0002 . . 0.001 . . . . . . 0.2631579 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . 0.0007 0.001 . 0.0007 0.001 . -0.0022 . . . . . . . . 6.712e-04 . . . 0.0001 0.0005 9.602e-05 0 0.0003 0.0011 0 6.564e-05 0.0001 0.0007 9.895e-05 0 0.0002 0.0014 0 6.602e-05 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.43 0.2 182 ENSG00000036054 TBC1D23 TBC1D23 . . . . . . 31 0.000477099 64976 30 0.000500117 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192862595 . . . . . . . . . . . . . . . . . . . . . . . 0.000693 . . . . . 6.746e-05 0.0006 0.0003 0 0 4.636e-05 0.0012 0.0004 3.499e-05 0.0002 0.0006 0 0 0 0 0.0011 0.0010 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . 0.0026 . . rs192862595 rs192862595 1 1538 10 1/0 0,255,255 +. 3 111904697 A G - SLC9C1 31401 Solute carrier family 9 member C1 NM_183061.2 -1 4154 3534 NP_898884.1 Q4G0N8 substitution intron GRCh37 111904697 111904697 Chr3(GRCh37):g.111904697A>G 2524-3592 2524-3592 NM_183061.2:c.2524-3592T>C p.? p.? 21 20 612738 -3592 3' 81.7486 8.81814 0.920486 2.65334 81.7486 8.81814 0.920486 2.65334 0 transition T C T>C 0.000 -14.080 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||SLC9C1|mRNA|CODING|NM_183061|) . . . . . . . 0.0292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000244144 SLC9C1 SLC9C1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv10307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs80289672 3 121351315 G A - HCLS1 4844 Hematopoietic cell-specific Lyn substrate 1 NM_005335.5 -1 2038 1461 NP_005326.2 P14317 substitution synonymous exon GRCh37 121351315 121351315 Chr3(GRCh37):g.121351315G>A 1104 1104 NM_005335.5:c.1104C>T p.Pro368= p.Pro368Pro 12 601306 96 3' 90.1171 X.42 0.991141 VIII.39 90.1171 X.42 0.991141 VIII.39 0 rs80289672 yes no Frequency/1000G 2 G 0.000000 0 0.000195 0.000000 0.000000 0.000000 0.000000 0.000000 0.000403 0.000000 0.000000 0.000403 6 0 0 0 0 0 6 0 0 30734 8668 832 300 1602 0 14882 3480 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes COSM1418167|COSM1418167 Large intestine|Haematopoietic and lymphoid tissue 0.003138|0.000567 2231|3530 transition C T C>T 0.000 -1.570 P Pro CCC 0.328 P Pro CCT 0.283 368 205 PASS 0.08 0.09 0.04 0.12 0.09 . . . . . . . . . . . 0.171875 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . . . . . . . . . 0.1087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.59 182 ENSG00000180353 HCLS1 HCLS1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs80289672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . 0.12 . . rs80289672 rs80289672 1 1538 10 1/0 0,205,255 +rs370408322 3 122255004 T C - PARP9 24118 Poly (ADP-ribose) polymerase family, member 9 NM_001146102.1 -1 3164 2565 NP_001139574.1 Q8IXQ6 substitution intron GRCh37 122255004 122255004 Chr3(GRCh37):g.122255004T>C 2185+11 2185+11 NM_001146102.1:c.2185+11A>G p.? p.? 10 10 612065 11 5' 77.9504 9.00165 0.945696 5.40391 77.9504 9.00165 0.945696 5.77275 0 rs370408322 yes no Frequency 1 T 0.000000 0 0.000144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000284 0.000039 0.000464 0.000284 40 0 0 0 0 0 36 1 3 277184 24020 34416 10152 18870 30782 126690 25788 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 0 0 0 0 0 36 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 181 transition A G A>G 0.126 0.932 255 PASS . . . . . . . . . . . ENSG00000138496:ENST00000462315:exon10:c.A2091G:p.Q697Q PARP9:uc003efj.2:exon10:c.A2091G:p.Q697Q PARP9:NM_001146106:exon10:c.A2091G:p.Q697Q . . 0.46153846 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.5710 . . . . . . . . 1.973e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 0.0002 0 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.32 182 ENSG00000138496 PARP9 PARP9 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . rs370408322 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv877391 0.000077 . . . . III.42 0 0.0001 0 0 0 4.485e-05 0.0003 0.0005 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs370408322 rs370408322 1 1538 10 1/0 0,255,255 +rs538366269 3 125695687 G A - ROPN1B 31927 Rhophilin associated tail protein 1B NM_001012337.2 1 1042 639 NP_001012337.1 Q9BZX4 substitution intron GRCh37 125695687 125695687 Chr3(GRCh37):g.125695687G>A 235-160 235-160 NM_001012337.2:c.235-160G>A p.? p.? 4 3 -160 3' 83.559 X.26 0.942639 14.4075 83.559 X.26 0.942639 14.4075 0 rs538366269 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.002297 0.007828 0.000000 0.000000 0.000000 0.000000 0.000210 0.000000 0.000000 0.007828 68 65 0 0 0 0 3 0 0 29602 8304 818 292 1568 0 14264 3414 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 65 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition G A G>A 0.000 0.125 221 PASS . . . . . 0.003 0.0008 . . . . . . . . . 0.21518987 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 158.0 . . . . . . . . . . -0.2450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . 0.0008 . . . 0.43 0.34 182 ENSG00000114547 ROPN1B ROPN1B ENST00000511082:c.-202G>A uc010hsc.3:c.-202G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs538366269 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0078 0.0023 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs2292075 rs2292075 rs2292075 rs2292075 1 1538 10 1/0 0,217,255 +rs149838873 3 126751667 G A - PLXNA1 9099 Plexin A1 NM_032242.3 1 9066 5691 NP_115618.3 Q9UIW2 substitution synonymous exon GRCh37 126751667 126751667 Chr3(GRCh37):g.126751667G>A 5583 5583 NM_032242.3:c.5583G>A p.Lys1861= p.Lys1861Lys 30 601055 -13 5' 74.6528 4.07208 0.165182 11.1711 74.6528 4.07208 0.165182 XI.19 0 Plexin, cytoplasmic RasGAP domain rs149838873 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.004383 0.000758 0.000321 0.000000 0.000000 0.000033 0.007338 0.009452 0.003454 0.009452 1191 18 11 0 0 1 897 242 22 271742 23754 34300 9980 18820 30676 122238 25604 6370 0.000052 0.000084 0.000000 0.000000 0.000000 0.000000 0.000082 0.000078 0.000000 7 1 0 0 0 0 5 1 0 1177 16 11 0 0 1 887 240 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4403 12947 56 3 59 0.00651163 0.00068089 0.00453637 0.00651163 0.00068089 0.00453637 75 transition G A G>A 1.000 1.820 K Lys AAG 0.575 K Lys AAA 0.425 1861 255 PASS . 0.0027 0.0028 . 0.01 . 0.0014 0.0014 . 0.006 . . . PLXNA1:NM_032242:exon30:c.G5583A:p.K1861K . . 0.5 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 106.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1861|PLXNA1|mRNA|CODING|NM_032242|NM_032242.ex.30) 0.0007 0.0045 0.0065 0.0007 0.0045 0.0065 . I.07 . . . . . . . . 4.581e-03 . . . 0.0007 0.0024 0.0003 0 0.0066 0.0043 0.0015 0 0.0008 0.0047 0.0003 0 0.0071 0.0080 0.0043 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.46 0.32 182 ENSG00000114554 PLXNA1 PLXNA1 . . . . . . 405 0.00623307 64976 398 0.00663488 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149838873 . . . . . . . . . . . . . . . . . . . . . . . 0.004536 . . . . III.53 0.0007 0.0044 0.0003 0 0 0.0094 0.0076 0.0033 3.26e-05 0.0008 0.0041 0 0 0 0.0097 0.0054 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149838873 rs149838873 1 1538 10 1/0 0,255,255 +. 3 127410956 TTTG T - MGLL 17038 Monoglyceride lipase NM_007283.6 -1 4642 942 NP_009214.1 deletion 3'UTR GRCh37 127410957 127410959 Chr3(GRCh37):g.127410957_127410959del *82 *84 NM_007283.6:c.*82_*84del p.? p.? 8 609699 208 3' 86.594 XI.17 0.958241 10.1705 86.594 XI.17 0.958241 10.1705 0 0.008949 0.028098 0.008152 0.000000 0.000000 0.000000 0.000891 0.005310 0.003817 0.028098 223 190 6 0 0 0 11 13 3 24920 6762 736 258 1578 0 12352 2448 786 0.013453 0.015789 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 3 0 0 0 0 0 0 0 217 184 6 0 0 0 11 13 3 0 0 0 0 0 0 0 0 0 PASS 45 Genomes CAA 255 Pass . . . . . . . . . . . . . . . . 0.6304348 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000074416 MGLL MGLL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0281 0.0089 0.0082 0 0 0.0053 0.0009 0.0038 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,43,255 +rs755551284 3 129280625 C G - PLXND1 9107 Plexin D1 NM_015103.2 -1 6977 5778 NP_055918.2 Q9Y4D7 substitution intron GRCh37 129280625 129280625 Chr3(GRCh37):g.129280625C>G 4929+18 4929+18 NM_015103.2:c.4929+18G>C p.? p.? 28 28 604282 18 5' 67.3753 3.97084 0.303721 9.91824 67.3753 3.97084 0.303721 X.47 0 rs755551284 yes no Frequency 1 C 0.000000 0 0.003570 0.000530 0.009746 0.002136 0.006208 0.012664 0.001418 0.001254 0.007147 0.012664 569 8 148 10 66 180 114 20 23 159382 15090 15186 4682 10632 14214 80410 15950 3218 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 569 8 148 10 66 180 114 20 23 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.570 199 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||PLXND1|mRNA|CODING|NM_015103|) . . . . . . . -0.0989 . . . . . . . . 3.083e-04 . . . 0.0001 0.0004 0.0001 0 0 0.0002 0 0.0020 0 0.0003 0.0001 0.0003 0 0.0001 0.0023 0.0020 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004399 PLXND1 PLXND1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755551284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0038 0.0099 0.0022 0.0070 0.0012 0.0014 0.0081 0.0127 0.0012 0.0011 0 0 0 0.0025 0.0011 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs760462327 3 132319393 T C - ACAD11 30211 Acyl-CoA dehydrogenase family, member 11 NM_032169.4 -1 3556 2343 NP_115545.3 Q709F0 substitution intron GRCh37 132319393 132319393 Chr3(GRCh37):g.132319393T>C 1621+2680 1621+2680 NM_032169.4:c.1621+2680A>G p.? p.? 13 13 614288 2680 5' 84.0719 8.94615 0.976502 4.56387 84.0719 8.94615 0.976502 4.56387 0 rs760462327 yes no Frequency 1 C 0.000000 0 0.000439 0.000893 0.000566 0.000102 0.000112 0.000000 0.000387 0.000897 0.001003 0.000897 115 20 17 1 2 0 47 22 6 261902 22404 30036 9760 17882 30006 121296 24536 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 20 17 1 2 0 47 22 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4157273|COSM4157273|COSM4157273 Thyroid|Pancreas|Haematopoietic and lymphoid tissue 0.001339|0.000566|0.000567 747|1766|3530 transition A G A>G 0.984 3.353 175 PASS . . . . . . . . . . . ENSG00000129048:ENST00000249887:exon2:c.T152C:p.V51A . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.163 . . 67.0 . . . . . . . . . . -0.6388 -0.438 -0.639 c . . . . . 7.104e-04 . . . 0.0003 0.0006 0.0005 0.0005 0 0.0008 0 0.0004 0.0002 0.0002 0.0004 0.0001 0 0.0001 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.779 @ . . . 0.42 0.43 182 ENSG00000129048 CCRL1 ACKR4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.292 . . . . T 0.133 0.005 . . 37 . 0.249 . . 0.129 . . . 0.051 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.360 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.023 . . . . . 0.663 . 0.270 . LowAF 0.77 rs760462327 . . . . . . . . . . . . 14.3718 . . 5.IV 5.IV . 0.570000 Q9NPB9 . . . . . 0.172 . . 5.IV 0 3.387e-05 0.0002 0 0 0 2.76e-05 0 0 0.0027 0.0042 0.0209 0.0040 0.0014 0.0084 0.0035 0.0077 . . 0.283 . 1.299 1.299000 . . 0.570000 . . 1.0E-175 0.995 0.385 . 0.266 0.145 . 0.472 . 0.155 1.299 0.002 . rs56267415 rs56267415 rs56267415 rs56267415 1 1538 10 1/0 0,243,255 +rs760462327 3 132319393 T C - ACKR4 1611 Atypical chemokine receptor 4 NM_016557.3 1 2343 1053 NP_057641.1 Q9NPB9 substitution missense exon GRCh37 132319393 132319393 Chr3(GRCh37):g.132319393T>C 152 152 NM_016557.3:c.152T>C p.Val51Ala p.Val51Ala 2 606065 161 3' 82.3404 7.86459 0.936128 4.14729 82.3404 7.86459 0.936128 4.14729 0 GPCR, rhodopsin-like, 7TM CXC chemokine receptor, type 4 rs760462327 yes no Frequency 1 C 0.000000 0 0.000439 0.000893 0.000566 0.000102 0.000112 0.000000 0.000387 0.000897 0.001003 0.000897 115 20 17 1 2 0 47 22 6 261902 22404 30036 9760 17882 30006 121296 24536 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 20 17 1 2 0 47 22 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4157273|COSM4157273|COSM4157273 Thyroid|Pancreas|Haematopoietic and lymphoid tissue 0.001339|0.000566|0.000567 747|1766|3530 transition T C T>C 0.984 3.353 V Val GTT 0.178 A Ala GCT 0.263 51 18 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 85.32 0.00 Tolerated 1 III.63 175 PASS . . . . . . . . . . . ENSG00000129048:ENST00000249887:exon2:c.T152C:p.V51A . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.163 . . 67.0 . . . . . . . . . . -0.6388 -0.438 -0.639 c . . . . . 7.104e-04 . . . 0.0003 0.0006 0.0005 0.0005 0 0.0008 0 0.0004 0.0002 0.0002 0.0004 0.0001 0 0.0001 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.779 @ . . . 0.42 0.43 182 ENSG00000129048 CCRL1 ACKR4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.292 . . . . T 0.133 0.005 . . 37 . 0.249 . . 0.129 . . . 0.051 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.360 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.023 . . . . . 0.663 . 0.270 . LowAF 0.77 rs760462327 . . . . . . . . . . . . 14.3718 . . 5.IV 5.IV . 0.570000 Q9NPB9 . . . . . 0.172 . . 5.IV 0 3.387e-05 0.0002 0 0 0 2.76e-05 0 0 0.0027 0.0042 0.0209 0.0040 0.0014 0.0084 0.0035 0.0077 . . 0.283 . 1.299 1.299000 . . 0.570000 . . 1.0E-175 0.995 0.385 . 0.266 0.145 . 0.472 . 0.155 1.299 0.002 . rs56267415 rs56267415 rs56267415 rs56267415 1 1538 10 1/0 0,243,255 +rs760462327 3 132319393 T C - NPHP3-ACAD11 48351 NPHP3-ACAD11 readthrough (NMD candidate) NR_037804.1 -1 7788 0 substitution intron GRCh37 132319393 132319393 Chr3(GRCh37):g.132319393T>C 5623+2680 5623+2680 NR_037804.1:n.5623+2680A>G p.? p.? 39 39 2680 5' 84.0719 8.94615 0.976502 4.56387 84.0719 8.94615 0.976502 4.56387 0 rs760462327 yes no Frequency 1 C 0.000000 0 0.000439 0.000893 0.000566 0.000102 0.000112 0.000000 0.000387 0.000897 0.001003 0.000897 115 20 17 1 2 0 47 22 6 261902 22404 30036 9760 17882 30006 121296 24536 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 20 17 1 2 0 47 22 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4157273|COSM4157273|COSM4157273 Thyroid|Pancreas|Haematopoietic and lymphoid tissue 0.001339|0.000566|0.000567 747|1766|3530 transition A G A>G 0.984 3.353 175 PASS . . . . . . . . . . . ENSG00000129048:ENST00000249887:exon2:c.T152C:p.V51A . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.163 . . 67.0 . . . . . . . . . . -0.6388 -0.438 -0.639 c . . . . . 7.104e-04 . . . 0.0003 0.0006 0.0005 0.0005 0 0.0008 0 0.0004 0.0002 0.0002 0.0004 0.0001 0 0.0001 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.779 @ . . . 0.42 0.43 182 ENSG00000129048 CCRL1 ACKR4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.292 . . . . T 0.133 0.005 . . 37 . 0.249 . . 0.129 . . . 0.051 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.360 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.023 . . . . . 0.663 . 0.270 . LowAF 0.77 rs760462327 . . . . . . . . . . . . 14.3718 . . 5.IV 5.IV . 0.570000 Q9NPB9 . . . . . 0.172 . . 5.IV 0 3.387e-05 0.0002 0 0 0 2.76e-05 0 0 0.0027 0.0042 0.0209 0.0040 0.0014 0.0084 0.0035 0.0077 . . 0.283 . 1.299 1.299000 . . 0.570000 . . 1.0E-175 0.995 0.385 . 0.266 0.145 . 0.472 . 0.155 1.299 0.002 . rs56267415 rs56267415 rs56267415 rs56267415 1 1538 10 1/0 0,243,255 +rs141527637 3 133664101 T C - SLCO2A1 10955 Solute carrier organic anion transporter family, member 2A1 NM_005630.2 -1 4223 1932 NP_005621.2 Q92959 substitution synonymous exon GRCh37 133664101 133664101 Chr3(GRCh37):g.133664101T>C 1299 1299 NM_005630.2:c.1299A>G p.Thr433= p.Thr433Thr 10 601460 4 3' 88.2063 7.02822 0.698649 8.43684 88.2063 7.02822 0.782602 8.88357 0.0400549 Organic anion transporter polypeptide OATP Major facilitator superfamily domain rs141527637 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000181 0.000126 0.000252 0.000000 0.000000 0.000036 0.000278 0.000000 0.000326 0.000278 48 3 8 0 0 1 34 0 2 264812 23768 31722 9246 18284 28102 122462 25092 6136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 3 8 0 0 1 34 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 111 transition A G A>G 1.000 2.062 T Thr ACA 0.280 T Thr ACG 0.116 433 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . ENSG00000174640:ENST00000481359:exon9:c.A1109G:p.H370R . SLCO2A1:NM_005630:exon10:c.A1299G:p.T433T . . 0.5463917 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T433|SLCO2A1|mRNA|CODING|NM_005630|NM_005630.ex.10) . 0.0002 0.0003 . 0.0002 0.0003 . 2.1024 . . . . . . . . 1.579e-04 . . . 0 0.0002 0.0002 0 0 0.0003 0 0 0 0.0002 0.0002 0 0 0.0003 0 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.33 0.6 182 ENSG00000174640 SLCO2A1 SLCO2A1 . . . . . . 14 0.000215464 64976 13 0.000216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141527637 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . IV.48 0.0001 0.0002 0.0003 0 0 0 0.0003 0.0004 3.558e-05 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs141527637 rs141527637 1 1538 10 1/0 0,255,255 +rs201797879 3 133748570 G A - SLCO2A1 10955 Solute carrier organic anion transporter family, member 2A1 NM_005630.2 -1 4223 1932 NP_005621.2 Q92959 substitution missense exon GRCh37 133748570 133748570 Chr3(GRCh37):g.133748570G>A 77 77 NM_005630.2:c.77C>T p.Ser26Leu p.Ser26Leu 1 601460 -20 5' 89.5524 9.59704 0.991071 XI.48 89.5524 9.59704 0.991071 X.31 0 Organic anion transporter polypeptide OATP Major facilitator superfamily domain rs201797879 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.002684 0.000538 0.000900 0.000000 0.000000 0.000546 0.004772 0.003049 0.002891 0.004772 620 10 29 0 0 15 490 60 16 231030 18582 32206 8976 15864 27496 102692 19680 5534 0.000035 0.000000 0.000062 0.000000 0.000000 0.000000 0.000058 0.000000 0.000000 4 0 1 0 0 0 3 0 0 612 10 27 0 0 15 484 60 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7906 3926 11832 30 0 30 0.00378024 0 0.00252908 0.00378024 0 0.00252908 7 transition C T C>T 0.291 1.981 S Ser TCG 0.056 L Leu TTG 0.127 26 15 8 Cow -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Deleterious 0.03 III.37 bad 5.969E-5 0.0006768 255 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . SLCO2A1:NM_005630:exon1:c.C77T:p.S26L . . 0.54545456 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.602 . @ . . . . . 1 0.817 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S26L|SLCO2A1|mRNA|CODING|NM_005630|NM_005630.ex.1) . 0.0025 0.0038 . 0.0025 0.0038 . -0.3110 -0.270 -0.311 c . . . . . 2.144e-03 . . . 0.0006 0.0042 0.0025 0 0.0071 0.0085 0 0.0004 0.0007 0.0037 0.0028 0 0.0082 0.0059 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.542 . . exonic exonic exonic . . 0.338 0.0004 . . . 0.19 0.34 182 ENSG00000174640 SLCO2A1 SLCO2A1 . . . 1.000 0.416 . 136 0.00209308 64976 136 0.0022672 59986 Uncertain_significance . 0 . 0.080 . . . . D 0.865 0.196 . . 37 . 0.384 . . 0.227 . . . 0.145 0.199 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.501 . . 0 0 0 0 0 0 . 0.647 . . 0.475 . . . . . . 0 0.433 . . . . . 0.388 . 0.479 . HET 0.03 rs201797879 . . . . . . . . . . . . IX.91 0.0 . 3.II 3.II . 0.150000 . . . Name\x3dnsv877509 0.002529 . 0.319 . . 3.II 0.0006 0.0024 0.0009 0 0 0.0031 0.0043 0.0026 0.0005 0.0005 0.0043 0.0012 0 0 0.0026 0.0077 0.0041 . . 0.486 . 1.680 1.680000 . . 0.150000 . . 1.0E-255 0.997 0.399 . 0.288 0.639 . 0.587 . 0.324 1.680 0.917 0.0038 . . rs201797879 rs201797879 1 1538 10 1/0 0,255,255 +rs764308882 3 138043862 C A - NME9 21343 NME/NM23 family member 9 NM_001349018.1 -1 2180 993 NP_001335947.1 Q86XW9 substitution intron GRCh37 138043862 138043862 Chr3(GRCh37):g.138043862C>A 34-90 34-90 NM_001349018.1:c.34-90G>T p.? p.? 2 1 -90 3' 85.6325 X.35 0.987647 3.28428 85.6325 X.35 0.987647 3.28428 0 rs764308882 yes no Frequency 1 C 0.000000 0 0.000129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000267 0.000000 0.000000 0.000267 4 0 0 0 0 0 4 0 0 30956 8720 838 302 1616 0 15006 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion G T G>T 0.000 1.497 255 PASS . . . . . . . . . . . . . . . . 0.61403507 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||NME9|mRNA|CODING|NM_178130|) . . . . . . . 0.4920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000181322 NME9 NME9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs764308882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.55 . . . . . . . . . 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs189455154 3 138178103 G A - ESYT3 24295 Extended synaptotagmin like protein 3 NM_001322831.1 1 5093 2661 NP_001309760.1 A0FGR9 substitution intron GRCh37 138178103 138178103 Chr3(GRCh37):g.138178103G>A 648+8 648+8 NM_001322831.1:c.648+8G>A p.? p.? 5 5 616692 8 5' 85.557 8.56441 0.804788 9.83299 85.557 8.56441 0.892076 10 0.0361536 rs189455154 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000800 0.005100 0.001000 0.004000 0.000000 0.002923 0.000396 0.000721 0.000329 0.002878 0.006742 0.002467 0.006894 0.002937 0.006894 741 9 22 3 47 181 289 173 17 253550 22704 30534 9126 16330 26848 117124 25096 5788 0.000032 0.000000 0.000000 0.000000 0.000000 0.000149 0.000017 0.000080 0.000000 4 0 0 0 0 2 1 1 0 733 9 22 3 47 177 287 171 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4404 12984 20 2 22 0.00232558 0.000453926 0.00169153 0.00232558 0.000453926 0.00169153 94 transition G A G>A 0.000 -0.117 255 PASS . 0.0018 . . 0.01 0.0008 0.0022 . 0.001 0.004 0.0051 . . . . . 0.5744681 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 94.0 . . INTRON(MODIFIER||||ESYT3|mRNA|CODING|NM_031913|) 0.0005 0.0017 0.0023 0.0005 0.0017 0.0023 . 0.2080 . . . . . . . . 2.748e-03 . . . 0.0008 0.0030 0.0007 0.0021 0.0074 0.0025 0.0046 0.0069 0.0007 0.0028 0.0007 0.0024 0.0073 0.0021 0.0047 0.0068 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.34 0.35 182 ENSG00000158220 ESYT3 ESYT3 . . . . . . 185 0.00284721 64976 174 0.00290068 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189455154 . . . . . . . . . . . . . . . . . . . . 0.0002 0.002 . 0.001692 . . . . . 0.0006 0.0030 0.0007 0.0003 0.0029 0.0069 0.0024 0.0025 0.0067 0 0.0026 0.0012 0 0.0031 0.0072 0.0030 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189455154 rs189455154 1 1538 10 1/0 0,255,255 +rs73238166 3 142090063 A G - XRN1 30654 5'-3' exoribonuclease 1 NM_019001.4 -1 10143 5121 NP_061874.3 Q8IZH2 substitution intron GRCh37 142090063 142090063 Chr3(GRCh37):g.142090063A>G 3068+18 3068+18 NM_019001.4:c.3068+18T>C p.? p.? 26 26 607994 18 5' 81.1326 VIII.68 0.990326 0 81.1326 VIII.68 0.990326 0 0 rs73238166 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000800 0.002000 0.000000 0.005000 0.005800 0.004316 0.001545 0.002242 0.001487 0.000000 0.001620 0.007593 0.001140 0.003597 0.007593 1186 37 76 15 0 49 957 29 23 274780 23948 33894 10086 18736 30242 126034 25446 6394 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1178 37 76 15 0 49 949 29 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4397 12922 69 7 76 0.00802886 0.00158946 0.00584705 0.00802886 0.00158946 0.00584705 76 transition T C T>C 0.000 -0.360 230 PASS 0.002 0.0027 0.0028 . 0.01 0.0008 0.0024 0.0058 . 0.005 0.002 . . . . . 0.25 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . 0.0016 0.0058 0.008 0.0016 0.0058 0.008 . 0.4283 . . . . . . . . 4.421e-03 . . . 0.0014 0.0044 0.0031 0 0.0008 0.0077 0.0014 0.0014 0.0014 0.0041 0.0030 0 0.0014 0.0066 0.0015 0.0015 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.52 0.14 182 ENSG00000114127 XRN1 XRN1 . . . . . . 329 0.00506341 64976 317 0.00528457 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73238166 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.005847 . . . . . 0.0014 0.0043 0.0023 0.0015 0 0.0012 0.0075 0.0039 0.0016 0.0018 0.0047 0.0012 0 0 0.0006 0.0083 0.0020 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . 0.01 . rs73238166 rs73238166 rs73238166 1 1538 10 1/0 0,255,255 +. 3 148885779 A ATT - CP 2295 Ceruloplasmin (ferroxidase) NM_000096.3 -1 4666 3198 NP_000087.1 P00450 duplication downstream GRCh37 148885779 148885780 Chr3(GRCh37):g.148885780_148885781dup *5720 *5721 NM_000096.3:c.*5720_*5721dup p.? p.? 19 117700 5738 3' 88.3597 7.65087 0.980524 3.27095 88.3597 7.65087 0.980524 3.27095 0 rs564039434 yes no Frequency/1000G 2 0.000000 0 0.007788 0.003000 0.018400 0.006000 0.009900 0.001400 0.009624 0.001850 0.002220 0.007182 0.000251 0.020269 0.010497 0.017190 0.008681 0.020269 2244 39 59 60 4 501 1128 406 47 233166 21076 26572 8354 15958 24718 107456 23618 5414 0.000043 0.000000 0.000000 0.000000 0.000000 0.000081 0.000037 0.000169 0.000000 5 0 0 0 0 1 2 2 0 6310 1427 308 92 538 568 2244 1014 119 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5708 1697 7405 82 36 118 0.0141623 0.0207732 0.0156852 0.0141623 0.0207732 0.0156852 62 AA 255 Pass . . . . . 0.003 0.0078 0.0014 0.006 0.0099 0.018 . . . . . 0.7058824 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Benign RCV000325027.1 Deficiency_of_ferroxidase MedGen:OMIM:Orphanet:SNOMED_CT C0878682:604290:ORPHA48818:124224004 2 . . . 17 . . . 0.0085 0.0094 0.01 0.0085 0.0094 0.0099 . . . . . . . . . . . . . . 0.0067 0.0105 0.0015 0.0008 0.0177 0.0103 0.0096 0.0211 0.0073 0.0113 0.0015 0.0013 0.0186 0.0114 0.0114 0.0211 . . . . . . intronic intronic intronic . . . . . . . . . . . HPS3 HPS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs564039434 . . . . . . . . . . . . . . . . . . . . . . . 0.009442 . . . . . 0.0018 0.0099 0.0021 0.0073 0.0003 0.0177 0.0105 0.0083 0.0203 0.0020 0.0078 0.0050 0.0035 0 0.0142 0.0108 0.0104 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . . . 1 1538 10 1.I 0,10,15 +. 3 148885779 A ATT - HPS3 15597 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 NM_032383.4 1 4129 3015 NP_115759.2 Q969F9 duplication intron GRCh37 148885789 148885790 Chr3(GRCh37):g.148885788_148885789dup 2887+18 2887+19 NM_032383.4:c.2887+18_2887+19dup p.? p.? 16 16 606118 19 5' 82.2129 8.37568 0.629981 III.76 82.2129 8.37568 0.629981 3.32756 0 rs564039434 yes no Frequency/1000G 2 0.000000 0 0.007788 0.003000 0.018400 0.006000 0.009900 0.001400 0.009624 0.001850 0.002220 0.007182 0.000251 0.020269 0.010497 0.017190 0.008681 0.020269 2244 39 59 60 4 501 1128 406 47 233166 21076 26572 8354 15958 24718 107456 23618 5414 0.000043 0.000000 0.000000 0.000000 0.000000 0.000081 0.000037 0.000169 0.000000 5 0 0 0 0 1 2 2 0 6310 1427 308 92 538 568 2244 1014 119 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5708 1697 7405 82 36 118 0.0141623 0.0207732 0.0156852 0.0141623 0.0207732 0.0156852 62 TT 255 Pass . . . . . 0.003 0.0078 0.0014 0.006 0.0099 0.018 . . . . . 0.7058824 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Benign RCV000325027.1 Deficiency_of_ferroxidase MedGen:OMIM:Orphanet:SNOMED_CT C0878682:604290:ORPHA48818:124224004 2 . . . 17 . . . 0.0085 0.0094 0.01 0.0085 0.0094 0.0099 . . . . . . . . . . . . . . 0.0067 0.0105 0.0015 0.0008 0.0177 0.0103 0.0096 0.0211 0.0073 0.0113 0.0015 0.0013 0.0186 0.0114 0.0114 0.0211 . . . . . . intronic intronic intronic . . . . . . . . . . . HPS3 HPS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs564039434 . . . . . . . . . . . . . . . . . . . . . . . 0.009442 . . . . . 0.0018 0.0099 0.0021 0.0073 0.0003 0.0177 0.0105 0.0083 0.0203 0.0020 0.0078 0.0050 0.0035 0 0.0142 0.0108 0.0104 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . . . 1 1538 10 1.I 0,10,15 +. 3 149192851 G GA - TM4SF4 11856 Transmembrane 4 L six family member 4 NM_004617.3 1 1607 609 NP_004608.1 P48230 insertion intron GRCh37 149192851 149192852 Chr3(GRCh37):g.149192851_149192852insA 174+13 174+14 NM_004617.3:c.174+13_174+14insA p.? p.? 1 1 606567 13 5' 82.9985 9.27414 0.980921 4.90298 82.9985 9.27414 0.980921 3.27757 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 239894 14990 32258 9708 16938 30158 110008 20486 5348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes A 255 Pass . . . . . . . . . . . . . . . . 0.6091954 . . . 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 87 . . INTRON(MODIFIER||||TM4SF4|mRNA|CODING|NM_004617|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000169903 TM4SF4 TM4SF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.169e-06 0 0 0 0 9.09e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,22 +rs62622807 3 149498097 T C - ANKUB1 29642 Ankyrin repeat and ubiquitin domain containing 1 NM_001144960.2 -1 2137 1635 NP_001138432.1 substitution missense exon GRCh37 149498097 149498097 Chr3(GRCh37):g.149498097T>C 380 380 NM_001144960.2:c.380A>G p.Tyr127Cys p.Tyr127Cys 3 -72 5' 59.1641 2.28715 0.071675 1.70985 59.1641 2.28715 0.071675 1.84633 0 rs62622807 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.008000 0.007200 0.006779 0.002253 0.004316 0.006197 0.000000 0.003681 0.010443 0.007677 0.007800 0.010443 1239 37 107 53 0 84 765 155 38 182770 16422 24794 8552 11862 22822 73256 20190 4872 0.000066 0.000000 0.000000 0.000000 0.000000 0.000088 0.000109 0.000099 0.000000 6 0 0 0 0 1 4 1 0 1227 37 107 53 0 82 757 153 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3142 1380 4522 40 4 44 0.0125707 0.00289017 0.00963644 0.0125707 0.00289017 0.00963644 188 transition A G A>G 1.000 0.286 Y Tyr TAC 0.562 C Cys TGC 0.552 127 12 8 Frog -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 248.38 0.00 Deleterious 0 4.VI 255 PASS . 0.0041 0.01 . 0.01 . 0.0026 0.0072 . 0.008 . . . . . . 0.46666667 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.511 . @ . . . . . 1 0.750 . . 60.0 . . . 0.0029 0.0096 0.013 0.0029 0.0096 0.013 . 0.1109 0.079 0.111 c . . . . . 6.408e-03 . . . 0.0028 0.0065 0.0048 0 0.025 0.0108 0.0208 0.0028 0.0033 0.0057 0.0067 0 0.0074 0.0102 0.0169 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.288 . . exonic exonic exonic . . 0.298 0.0026 . . . 0.31 0.24 182 ENSG00000206199 ANKUB1 ANKUB1 . . . 0.999 0.382 . 583 0.00897254 64976 571 0.00951889 59986 Uncertain_significance . 0 . 0.245 . . . . . . . . . 37 . 0.249 . . 0.350 . . . 0.488 0.307 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.773 . . 0 0 0 0 0 0 . 0.615 . . 0.521 . . . . . . 1 0.614 . . . . . 0.393 . 0.416 . HET 0 rs62622807 . . . . . . . 0.004120879120879121 0.0 0.008287292817679558 0.0 0.0079155672823219 IX.33 0.001425 . V.35 II.57 . 0.010000 . . . . 0.009636 . 0.326 . . II.57 0.0018 0.0067 0.0043 0.0063 0 0.0077 0.0104 0.0082 0.0037 0.0026 0.0070 0.0036 0.0033 0 0.0074 0.0105 0.0061 . . 0.133 . 0.955 0.955000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.466 0.995 . 0.347 . 0.206 0.955 -0.291 0.013 rs62622807 rs62622807 rs62622807 rs62622807 1 1538 10 1/0 0,255,255 +rs148518207 3 151017912 G A - GPR87 4538 G protein-coupled receptor 87 NM_023915.3 -1 1521 1077 NP_076404.3 Q9BY21 substitution 5'UTR GRCh37 151017912 151017912 Chr3(GRCh37):g.151017912G>A -24 -24 NM_023915.3:c.-24C>T p.? p.? 2 606379 -58 5' 82.0854 7.47029 0.971942 0 82.0854 7.47029 0.971942 0 0 Cryptic Acceptor Weakly Activated 151017905 6.74129 0.711476 88.5325 VI.09 0.822405 90.0431 rs148518207 yes no Frequency/1000G 2 G 0.000000 0 0.005791 0.000000 0.016400 0.000000 0.011900 0.001400 0.009534 0.000832 0.001598 0.001182 0.000106 0.016212 0.007408 0.041421 0.007426 0.041421 2642 20 55 12 2 499 938 1068 48 277104 24034 34412 10148 18854 30780 126628 25784 6464 0.000303 0.000000 0.000000 0.000000 0.000000 0.000910 0.000032 0.001939 0.000309 42 0 0 0 0 14 2 25 1 2558 20 55 12 2 471 934 1018 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4399 12935 64 7 71 0.00744186 0.00158874 0.00545902 0.00744186 0.00158874 0.00545902 86 transition C T C>T 0.008 0.770 255 PASS . 0.01 . . 0.02 . 0.0058 0.0014 . 0.012 0.016 . . . . . 0.49019608 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . 0.0016 0.0055 0.0074 0.0016 0.0055 0.0074 . 0.4829 . . . . . . . . 9.408e-03 . . . 0.0011 0.0084 0.0020 0.0004 0.0416 0.0067 0.0154 0.0169 0.0011 0.0092 0.0020 0.0001 0.0392 0.0074 0.0144 0.0168 . . . . . . UTR5 UTR5 UTR5 . . . 0.0058 . . . 0.49 0.57 182 ENSG00000138271 GPR87 GPR87 ENST00000260843:c.-24C>T uc003eyt.2:c.-24C>T NM_023915:c.-24C>T . . . 545 0.00838771 64976 516 0.00860201 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148518207 . . . . . . . . . . . . . . . . . . . . . . . 0.005459 . . . . II.65 0.0008 0.0096 0.0016 0.0011 0.0001 0.0423 0.0072 0.0064 0.0162 0.0008 0.0093 0.0024 0.0033 0 0.0361 0.0093 0.0132 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs148518207 rs148518207 1 1538 10 1/0 0,255,255 +rs148518207 3 151017912 G A - MED12L 16050 Mediator complex subunit 12-like NM_053002.5 1 10440 6438 NP_443728.3 Q86YW9 substitution intron GRCh37 151017912 151017912 Chr3(GRCh37):g.151017912G>A 2146-49935 2146-49935 NM_053002.5:c.2146-49935G>A p.? p.? 15 14 611318 -49935 3' 98.1858 X.97 0.957794 X.67 98.1858 X.97 0.957794 X.67 0 rs148518207 yes no Frequency/1000G 2 G 0.000000 0 0.005791 0.000000 0.016400 0.000000 0.011900 0.001400 0.009534 0.000832 0.001598 0.001182 0.000106 0.016212 0.007408 0.041421 0.007426 0.041421 2642 20 55 12 2 499 938 1068 48 277104 24034 34412 10148 18854 30780 126628 25784 6464 0.000303 0.000000 0.000000 0.000000 0.000000 0.000910 0.000032 0.001939 0.000309 42 0 0 0 0 14 2 25 1 2558 20 55 12 2 471 934 1018 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4399 12935 64 7 71 0.00744186 0.00158874 0.00545902 0.00744186 0.00158874 0.00545902 86 transition G A G>A 0.008 0.770 255 PASS . 0.01 . . 0.02 . 0.0058 0.0014 . 0.012 0.016 . . . . . 0.49019608 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . 0.0016 0.0055 0.0074 0.0016 0.0055 0.0074 . 0.4829 . . . . . . . . 9.408e-03 . . . 0.0011 0.0084 0.0020 0.0004 0.0416 0.0067 0.0154 0.0169 0.0011 0.0092 0.0020 0.0001 0.0392 0.0074 0.0144 0.0168 . . . . . . UTR5 UTR5 UTR5 . . . 0.0058 . . . 0.49 0.57 182 ENSG00000138271 GPR87 GPR87 ENST00000260843:c.-24C>T uc003eyt.2:c.-24C>T NM_023915:c.-24C>T . . . 545 0.00838771 64976 516 0.00860201 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148518207 . . . . . . . . . . . . . . . . . . . . . . . 0.005459 . . . . II.65 0.0008 0.0096 0.0016 0.0011 0.0001 0.0423 0.0072 0.0064 0.0162 0.0008 0.0093 0.0024 0.0033 0 0.0361 0.0093 0.0132 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs148518207 rs148518207 1 1538 10 1/0 0,255,255 +rs185787611 (chr3:161147131 A/G) 3 161147131 A G Not on a known gene +rs368339166 (chr3:161147146 C/A) 3 161147146 C A Not on a known gene +. (chr3:161147374 T/C) 3 161147374 T C Not on a known gene +rs770963599 (chr3:161147380 C/T) 3 161147380 C T Not on a known gene +rs202213975 3 169521963 G A - LRRC34 28408 Leucine rich repeat containing 34 NM_001172779.1 -1 1840 1395 NP_001166250.1 substitution missense exon GRCh37 169521963 169521963 Chr3(GRCh37):g.169521963G>A 535 535 NM_001172779.1:c.535C>T p.Arg179Trp p.Arg179Trp 6 7 3' 95.5619 9.01268 0.990842 7.42218 95.5619 9.01268 0.99184 7.02475 0.000335741 Leucine-rich repeat, ribonuclease inhibitor subtype rs202213975 yes no Frequency 1 G 0.000000 0 0.000296 0.000000 0.000183 0.005703 0.000000 0.000040 0.000117 0.000000 0.000523 0.005703 75 0 5 52 0 1 14 0 3 252980 23200 27370 9118 17208 24978 120032 25338 5736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 75 0 5 52 0 1 14 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4404 13001 1 0 1 0.000116306 0 7.69112e-05 0.000116306 0 7.69112e-05 53 transition C T C>T 0.031 -0.198 R Arg CGG 0.207 W Trp TGG 1.000 179 15 4 Tetraodon -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 96.44 71.01 Deleterious 0.02 III.35 good 1.731E-1 0.2793 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.538 . @ . . . . . 1 0.374 . . 15.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.6509 -0.821 -0.651 c . . . . . 2.526e-04 . . . 0 0.0004 8.812e-05 0 0 0.0007 0.0015 6.506e-05 0 0.0002 9.088e-05 0 0 0.0004 0.0015 6.544e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.540 . . exonic exonic exonic . . 0.162 @ . . . 0.48 0.24 182 ENSG00000171757 LRRC34 LRRC34 . . . 0.000 0.069 . 6 9.23418e-05 64976 6 0.000100023 59986 Uncertain_significance . 0 . 0.075 . . . . D 0.529 0.030 . . 37 . 0.601 . . 0.514 . . . 0.689 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.652 . . 0 0 0 0 0 0 . 0.629 . . 0.489 . . . . . . 0 0.574 . . . . . 0.257 . 0.192 . HET 0.01 rs202213975 . . . . . . . . . . . . VII.21 0.0 . V.46 0.521 . 0.030000 . . . . 0.000077 . 0.070 . . . 0 0.0003 0.0002 0.0058 0 0 0.0001 0.0006 4.004e-05 0 0.0001 0 0.0033 0 0 0.0002 0 . . 0.428 . 0.070 0.070000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.279 0.207 . 0.044 . 0.094 0.070 -0.677 0.0001 . . rs202213975 rs202213975 1 1538 10 1/0 0,255,255 +rs187242744 3 170016925 T G - PRKCI 9404 Protein kinase C, iota NM_002740.5 1 4884 1791 NP_002731.4 P41743 substitution intron GRCh37 170016925 170016925 Chr3(GRCh37):g.170016925T>G 1703+27 1703+27 NM_002740.5:c.1703+27T>G p.? p.? 17 17 600539 27 5' 78.9032 10.1476 0.980958 0.760132 78.9032 10.1476 0.980958 0.675233 0 rs187242744 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.000000 0.002000 0.000000 0.002000 0.002900 0.001584 0.000344 0.002784 0.004198 0.000000 0.001157 0.002058 0.000046 0.003966 0.004198 299 7 49 17 0 17 192 1 16 188718 20364 17598 4050 13088 14690 93304 21590 4034 0.000021 0.000000 0.000114 0.000000 0.000000 0.000000 0.000021 0.000000 0.000000 2 0 1 0 0 0 1 0 0 295 7 47 17 0 17 190 1 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4405 12995 10 1 11 0.00116279 0.000226963 0.000845763 0.00116279 0.000226963 0.000845763 30 transversion T G T>G 0.102 0.932 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0012 0.0029 . 0.002 0.002 . . . . . 0.52 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||PRKCI|mRNA|CODING|NM_002740|) 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . 0.2503 . . . . . . . . 1.646e-03 . . . 0.0006 0.0023 0.0035 0 0 0.0032 0.0036 0.0014 0.0007 0.0019 0.0034 0 0 0.0024 0.0055 0.0014 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.63 0.22 182 ENSG00000163558 PRKCI PRKCI . . . . . . 102 0.00156981 64976 96 0.00160037 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187242744 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7356 0.000846 . . . . II.73 0.0003 0.0017 0.0027 0.0043 0 5.523e-05 0.0021 0.0046 0.0012 0.0005 0.0011 0.0036 0.0033 0 0 0.0016 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs187242744 rs187242744 1 1538 10 1/0 0,255,255 +rs373243207 3 171569876 G A - TMEM212 34295 Transmembrane protein 212 NM_001164436.1 1 1881 585 NP_001157908.1 A6NML5 substitution intron GRCh37 171569876 171569876 Chr3(GRCh37):g.171569876G>A 219+45 219+45 NM_001164436.1:c.219+45G>A p.? p.? 2 2 45 5' 79.3374 6.05868 0.976819 0.507179 79.3374 6.05868 0.976819 0 0 rs373243207 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001310 0.000437 0.001345 0.002369 0.000000 0.000000 0.002091 0.000386 0.001904 0.002369 223 7 33 20 0 0 150 4 9 170180 16036 24532 8442 11646 22696 71726 10374 4728 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 7 33 20 0 0 150 4 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3176 1383 4559 6 1 7 0.00188561 0.000722543 0.00153307 0.00188561 0.000722543 0.00153307 108 transition G A G>A 0.000 0.448 255 PASS . . . . . . 0.0006 . . 0.003 . . . . . . 0.6229508 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . INTRON(MODIFIER||||TMEM212|mRNA|CODING|NM_001164436|) 0.0007 0.0015 0.0019 0.0007 0.0015 0.0019 . 0.5770 . . . . . . . . 6.771e-04 . . . 0.0011 0.0008 0.0033 0 0 0.0015 0 0 0.0007 0.0004 0 0 0.0006 0.0010 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.37 0.47 182 ENSG00000186329 TMEM212 TMEM212 . . . . . . 191 0.00293955 64976 188 0.00313406 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373243207 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7356 0.001533 . . . . II.46 0.0004 0.0013 0.0013 0.0023 0 0.0004 0.0021 0.0019 0 0.0005 0.0013 0.0024 0.0033 0 0.0003 0.0020 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0019 . . rs373243207 rs373243207 1 1538 10 1/0 0,255,255 +rs61750378 3 176767818 T C - TBL1XR1 29529 Transducin (beta)-like 1 X-linked receptor 1 NM_001321193.1 -1 7954 1545 NP_001308122.1 Q9BZK7 substitution synonymous exon GRCh37 176767818 176767818 Chr3(GRCh37):g.176767818T>C 669 669 NM_001321193.1:c.669A>G p.Pro223= p.Pro223Pro 7 608628 -34 5' 82.716 7.79763 0.809217 0.546972 82.716 7.79763 0.809217 0.919891 0 rs61750378 yes no Frequency/1000G 2 T 0.000000 0 0.002995 0.000000 0.000000 0.000000 0.009900 0.007200 0.005177 0.001083 0.000931 0.005228 0.000000 0.000000 0.008651 0.007583 0.005113 0.008651 1432 26 32 53 0 0 1093 195 33 276622 24008 34372 10138 18828 30770 126338 25714 6454 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1424 26 32 53 0 0 1085 195 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8234 3982 12216 60 4 64 0.00723415 0.00100351 0.00521173 0.00723415 0.00100351 0.00521173 156 transition A G A>G 0.543 -1.247 P Pro CCA 0.274 P Pro CCG 0.115 223 255 PASS . 0.0041 0.01 . 0.01 . 0.003 0.0072 . 0.0099 . . . TBL1XR1:NM_024665:exon7:c.A669G:p.P223P . . 0.44155845 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 77.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P223|TBL1XR1|mRNA|CODING|NM_024665|NM_024665.ex.7) 0.001 0.0052 0.0072 0.001 0.0052 0.0072 . 0.8633 . . . . . . . . 5.343e-03 . . . 0.0012 0.0044 0.0010 0 0.0074 0.0081 0.0029 0 0.0013 0.0049 0.0010 0 0.0079 0.0081 0.0044 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0030 . . . 0.55 0.35 182 ENSG00000177565 TBL1XR1 TBL1XR1 . . . . . . 393 0.00604839 64976 379 0.00631814 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61750378 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.005212 . . . . . 0.0010 0.0051 0.0009 0.0052 0 0.0077 0.0085 0.0051 0 0.0011 0.0062 0.0012 0.0066 0 0.0072 0.0099 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs61750378 rs61750378 rs61750378 rs61750378 1 1538 10 1/0 0,255,255 +rs7637065 (chr3:179096508 C/G) 3 179096508 C G Transcript NM_033540.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) MFN1 +rs189930234 3 180633454 C A - FXR1 4023 Fragile X mental retardation, autosomal homolog 1 NM_005087.3 1 8567 1866 NP_005078.2 P51114 substitution intron GRCh37 180633454 180633454 Chr3(GRCh37):g.180633454C>A 51+2930 51+2930 NM_005087.3:c.51+2930C>A p.? p.? 1 1 600819 2930 5' 71.4965 8.55816 0.795704 7.191 71.4965 8.55816 0.795704 7.191 0 rs189930234 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.000698 0.000201 0.000610 0.000120 0.000000 0.000000 0.001317 0.000114 0.001307 0.001317 112 3 15 1 0 0 86 1 6 160562 14906 24578 8352 11534 22524 65288 8788 4592 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000031 0.000000 0.000000 1 0 0 0 0 0 1 0 0 110 3 15 1 0 0 84 1 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -0.521 255 PASS . 0.0009 0.01 . . . 0.0006 0.0029 . 0.001 . . . . . . 0.42553192 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.2347 . . . . . . . . 1.669e-04 . . . 0 0.0002 0 0 0 0.0006 0 0 0 9.127e-05 0 0 0 0.0004 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.31 0.18 182 ENSG00000114416 FXR1 FXR1 . . . . . . 87 0.00133896 64976 84 0.00140033 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189930234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0.0006 0.0001 0 0.0002 0.0014 0.0011 0 0.0003 0.0006 0 0 0 0 0.0010 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189930234 rs189930234 1 1538 10 1/0 0,255,255 +rs375924051 3 183756837 G T - HTR3D 24004 5-hydroxytryptamine (serotonin) receptor 3 family member D NM_001163646.1 1 1759 1365 NP_001157118.1 Q70Z44 substitution 3'UTR GRCh37 183756837 183756837 Chr3(GRCh37):g.183756837G>T *74 *74 NM_001163646.1:c.*74G>T p.? p.? 8 610122 304 3' 87.1925 X.68 0.99609 9.59355 87.1925 X.68 0.99609 9.59355 0 rs375924051 no no 0 T 0.000000 0 transversion G T G>T 0.000 -6.655 255 PASS . . . . . . . . . . . . . . . . 0.328125 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -1.3794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000186090 HTR3D HTR3D . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375924051 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv4145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375924051 rs375924051 1 1538 10 1/0 0,255,255 +. 3 183899148 GTTCGCTC G - AP2M1 564 Adaptor-related protein complex 2, mu 1 subunit NM_001311198.1 1 2015 1383 NP_001298127.1 deletion intron GRCh37 183899151 183899157 Chr3(GRCh37):g.183899151_183899157del 782+137 782+143 NM_001311198.1:c.782+137_782+143del p.? p.? 9 9 601024 137 5' 69.1017 4.00629 0.251064 0.938224 69.1017 4.00629 0.251064 0.938224 0 rs570199310 yes no Frequency/1000G 2 0.000599 - 3 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.006369 0.000000 0.000000 0.000000 0.000000 0.000000 0.006007 0.029210 0.005112 0.029210 197 0 0 0 0 0 90 102 5 30930 8716 838 302 1622 0 14982 3492 978 0.010152 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.000000 0.000000 2 0 0 0 0 0 2 0 0 193 0 0 0 0 0 86 102 5 0 0 0 0 0 0 0 0 0 PASS 40 Genomes CGCTCTT 255 Pass . . . . . . 0.0006 . . 0.003 . . . . . . 0.3846154 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . . . . . . . . . AP2M1 AP2M1 . uc031scq.1:c.*74_*80delTTCGCTC . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs570199310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0064 0 0 0 0.0292 0.0060 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +. 3 183960782 T TG - ALG3 23056 ALG3, alpha-1,3- mannosyltransferase NM_005787.5 -1 1533 1317 NP_005778.1 Q92685 duplication intron GRCh37 183960782 183960783 Chr3(GRCh37):g.183960783dup 1010-38 1010-38 NM_005787.5:c.1010-38dup p.? p.? 8 7 608750 -37 3' 0 0 0 0 0 0 0 0 0 rs532747618 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003970 0.000000 0.000239 0.000100 0.000054 0.000033 0.003220 0.026667 0.003003 0.026667 1065 0 8 1 1 1 395 640 19 268254 23438 33450 9972 18492 29894 122682 24000 6326 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000833 0.000000 12 0 0 0 0 0 2 10 0 1040 0 8 1 1 1 390 620 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7930 3823 11753 24 11 35 0.00301735 0.00286907 0.00296912 0.00301735 0.00286907 0.00296912 38 C 255 Pass . . . . . . 0.001 . . 0.005 . . . . . . 0.3243243 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . 0.0023 0.0027 0.0029 0.0029 0.003 0.003 . . . . . . . . . . . . . . 0.0002 0.0020 0.0001 0 0.0233 0.0020 0.0047 0 0 0.0030 0.0001 0 0.0235 0.0032 0.0050 0 . . . . . . intronic intronic intronic . . . . . . . . . . . ALG3 ALG3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs532747618 . . . . . . . . . . . . . . . . . . . . . . . 0.002715 . . . . . 0 0.0036 0.0002 0.0001 0 0.0262 0.0028 0.0024 3.345e-05 0 0.0066 0 0 0.0006 0.0295 0.0063 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . . . . 1 1538 10 1.I 0,11,49 +. 3 183960782 T TG - MIR1224 33923 MicroRNA 1224 NR_030410.1 1 85 0 duplication downstream GRCh37 183960789 183960790 Chr3(GRCh37):g.183960789dup *1512 *1512 NR_030410.1:n.*1512dup p.? p.? 1 611620 rs532747618 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003970 0.000000 0.000239 0.000100 0.000054 0.000033 0.003220 0.026667 0.003003 0.026667 1065 0 8 1 1 1 395 640 19 268254 23438 33450 9972 18492 29894 122682 24000 6326 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000833 0.000000 12 0 0 0 0 0 2 10 0 1040 0 8 1 1 1 390 620 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7930 3823 11753 24 11 35 0.00301735 0.00286907 0.00296912 0.00301735 0.00286907 0.00296912 38 G 255 Pass . . . . . . 0.001 . . 0.005 . . . . . . 0.3243243 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . 0.0023 0.0027 0.0029 0.0029 0.003 0.003 . . . . . . . . . . . . . . 0.0002 0.0020 0.0001 0 0.0233 0.0020 0.0047 0 0 0.0030 0.0001 0 0.0235 0.0032 0.0050 0 . . . . . . intronic intronic intronic . . . . . . . . . . . ALG3 ALG3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs532747618 . . . . . . . . . . . . . . . . . . . . . . . 0.002715 . . . . . 0 0.0036 0.0002 0.0001 0 0.0262 0.0028 0.0024 3.345e-05 0 0.0066 0 0 0.0006 0.0295 0.0063 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . . . . 1 1538 10 1.I 0,11,49 +. 3 183960782 T TG - VWA5B2 25144 Von Willebrand factor A domain containing 5B2 NM_138345.2 1 4120 3729 NP_612354.1 duplication downstream GRCh37 183960789 183960790 Chr3(GRCh37):g.183960789dup *963 *963 NM_138345.2:c.*963dup p.? p.? 19 1512 3' 87.7233 13.0406 0.995992 17.8571 87.7233 13.0406 0.995992 17.8571 0 rs532747618 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.003970 0.000000 0.000239 0.000100 0.000054 0.000033 0.003220 0.026667 0.003003 0.026667 1065 0 8 1 1 1 395 640 19 268254 23438 33450 9972 18492 29894 122682 24000 6326 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000033 0.000833 0.000000 12 0 0 0 0 0 2 10 0 1040 0 8 1 1 1 390 620 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7930 3823 11753 24 11 35 0.00301735 0.00286907 0.00296912 0.00301735 0.00286907 0.00296912 38 G 255 Pass . . . . . . 0.001 . . 0.005 . . . . . . 0.3243243 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . 0.0023 0.0027 0.0029 0.0029 0.003 0.003 . . . . . . . . . . . . . . 0.0002 0.0020 0.0001 0 0.0233 0.0020 0.0047 0 0 0.0030 0.0001 0 0.0235 0.0032 0.0050 0 . . . . . . intronic intronic intronic . . . . . . . . . . . ALG3 ALG3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs532747618 . . . . . . . . . . . . . . . . . . . . . . . 0.002715 . . . . . 0 0.0036 0.0002 0.0001 0 0.0262 0.0028 0.0024 3.345e-05 0 0.0066 0 0 0.0006 0.0295 0.0063 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . . . . 1 1538 10 1.I 0,11,49 +rs11545175 3 184025306 G A - PSMD2 9559 Proteasome 26S subunit, non-ATPase 2 NM_002808.4 1 3060 2727 NP_002799.3 Q13200 substitution synonymous exon GRCh37 184025306 184025306 Chr3(GRCh37):g.184025306G>A 2196 2196 NM_002808.4:c.2196G>A p.Val732= p.Val732Val 17 606223 -8 5' 84.0719 8.94615 0.984973 4.38314 84.0719 8.94615 0.984973 4.34516 0 Cryptic Donor Strongly Activated 184025303 4.90179 0.008116 70.9607 7.41715 0.228143 75.323 26S proteasome regulatory complex, non-ATPase subcomplex, Rpn1 subunit rs11545175 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.002796 0.000800 0.000000 0.000000 0.010900 0.002900 0.005396 0.001664 0.003980 0.014677 0.000000 0.000877 0.008160 0.003103 0.004485 0.014677 1496 40 137 149 0 27 1034 80 29 277226 24034 34420 10152 18870 30782 126718 25784 6466 0.000065 0.000000 0.000058 0.000000 0.000000 0.000000 0.000110 0.000000 0.000309 9 0 1 0 0 0 7 0 1 1478 40 135 149 0 27 1020 80 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4392 12925 67 14 81 0.0077907 0.00317749 0.00622789 0.0077907 0.00317749 0.00622789 82 transition G A G>A 1.000 1.497 V Val GTG 0.468 V Val GTA 0.114 732 255 PASS . 0.0041 0.0028 . 0.01 0.0008 0.0028 0.0029 . 0.011 . . . . . . 0.4027778 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . . 0.0032 0.0062 0.0078 0.0032 0.0062 0.0078 . -0.0997 . . . . . . . . 5.643e-03 . . . 0.0019 0.0055 0.0035 0 0.0053 0.0095 0.0028 0.0008 0.0019 0.0055 0.0037 0 0.0036 0.0090 0.0014 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.25 182 ENSG00000175166 PSMD2 PSMD2 . . . . . . 591 0.00909567 64976 577 0.00961891 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34947519 . . . . . . . 0.004120879120879121 0.0 0.0027624309392265192 0.0 0.010554089709762533 VI.18 0.002408 ENST00000432855 5.IX II.19 . . . . . . 0.006228 . . . . II.19 0.0018 0.0055 0.0039 0.0147 0 0.0030 0.0082 0.0046 0.0009 0.0014 0.0049 0.0060 0.0132 0 0.0040 0.0075 0.0041 . . . . 0.125 0.125000 . . . . . 1.0E-255 . . . . . . . . . 0.125 . 0.01 rs34947519 rs34947519 rs11545175 rs11545175 1 1538 10 1/0 0,255,255 +rs1675956 3 194353786 C G - TMEM44 25120 Transmembrane protein 44 NM_001166305.1 -1 2490 1428 NP_001159777.1 Q2T9K0 substitution intron GRCh37 194353786 194353786 Chr3(GRCh37):g.194353786C>G 137+22 137+22 NM_001166305.1:c.137+22G>C p.? p.? 1 1 22 5' 58.0045 0 0.000853 4.56793 58.0045 0 0.000853 III.59 0 rs1675956 yes no Frequency 1 C 0.000000 0 0.000030 0.000157 0.000042 0.000000 0.000000 0.000044 0.000022 0.000000 0.000000 0.000157 4 1 1 0 0 1 1 0 0 133686 6356 23576 7800 9568 22482 46312 14028 3564 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 52 Exomes transversion G C G>C 0.024 0.286 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.4352 . . . . . . . . 5.531e-04 . . . 0.0008 0.0001 0 0 0 0 0 0.0001 0 7.943e-05 0 0 0 0 0 0.0001 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.23 0.26 182 ENSG00000229334 TMEM44 TMEM44 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs1675956 0.087 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 2.992e-05 4.242e-05 0 0 0 2.159e-05 0 4.448e-05 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . 0.087 rs1675956 rs1675956 rs1675956 rs1675956 1 1538 10 1/0 0,255,255 +rs712003 3 195415529 C T - SDHAP2 27408 Succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 NR_003265.3 1 2310 0 substitution exon GRCh37 195415529 195415529 Chr3(GRCh37):g.195415529C>T 2097 2097 NR_003265.3:n.2097C>T 15 126 3' 88.7315 6.29296 0.84621 6.46479 88.7315 6.29296 0.84621 6.46479 0 rs712003 yes no Frequency 1 0.000000 0 0.002899 0.002984 0.004398 0.000668 0.004163 0.003696 0.002217 0.000291 0.006367 0.004398 337 37 75 4 39 58 101 2 21 116232 12400 17054 5986 9368 15692 45564 6870 3298 0.000086 0.000000 0.000352 0.000000 0.000000 0.000127 0.000000 0.000000 0.000606 5 0 3 0 0 1 0 0 1 327 37 69 4 39 56 101 2 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 247 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 16.0 . . . . . . . . . . -0.4618 . . . . . . . . 1.994e-04 . . . 0 0.0002 0 0.0208 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.39 0.06 182 ENSG00000242086 . . . dist\x3d14671\x3bdist\x3d10743 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200789312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0025 0.0045 0.0007 0.0041 0.0003 0.0010 0.0066 0.0037 0.0046 0.0047 0.0015 0 0.0048 0.0003 0.0064 0.0056 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . rs712003 rs712003 rs712003 rs200789312 1 1538 10 1/0 0,255,255 +rs878980650 3 195447805 T C - MUC20 23282 Mucin 20, cell surface associated NM_001282506.1 1 2591 2130 NP_001269435.1 Q8N307 substitution 5'UTR GRCh37 195447805 195447805 Chr3(GRCh37):g.195447805T>C -74 -74 NM_001282506.1:c.-74T>C p.? p.? 1 610360 -150 5' 94.9812 11.083 0.998172 7.28037 94.9812 11.083 0.998172 7.28037 0 Cryptic Donor Strongly Activated 195447806 0.845705 0.021643 66.1107 I.34 0.03076 65.7076 rs878980650 no no 0 T 0.000000 0 0.003443 0.001246 0.002597 0.003623 0.009646 0.000000 0.004648 0.002211 0.002381 0.009646 93 10 2 1 12 0 59 7 2 27014 8024 770 276 1244 0 12694 3166 840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 10 2 1 12 0 59 7 2 0 0 0 0 0 0 0 0 0 RF 91 Genomes transition T C T>C 0.370 -2.216 237 PASS . . . . . . . . . . . . . . . . 0.26530612 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . -0.3096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR5 UTR5 . . . @ . . . . . . ENSG00000242086 MUC20 MUC20 . uc010hzo.3:c.-74T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0034 0.0026 0.0036 0.0096 0.0022 0.0046 0.0024 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs369019587 3 195451917 G T - MUC20 23282 Mucin 20, cell surface associated NM_001282506.1 1 2591 2130 NP_001269435.1 Q8N307 substitution missense exon GRCh37 195451917 195451917 Chr3(GRCh37):g.195451917G>T 443 443 NM_001282506.1:c.443G>T p.Ser148Ile p.Ser148Ile 2 610360 367 3' 75.8577 2.71818 0.266872 3.27235 75.8577 2.71818 0.266872 3.27235 0 Cryptic Acceptor Strongly Activated 195451926 1.2e-05 0.105403 0.000152 70.7236 rs369019587 yes no Frequency 1 G 0.000000 0 0.000904 0.008116 0.000321 0.000099 0.000270 0.000523 0.000275 0.000118 0.000478 0.008116 244 171 11 1 5 16 34 3 3 269986 21070 34216 10094 18520 30578 123780 25446 6282 0.000341 0.003892 0.000117 0.000000 0.000000 0.000131 0.000016 0.000000 0.000000 46 41 2 0 0 2 1 0 0 152 89 7 1 5 12 32 3 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.941 1.416 S Ser AGC 0.243 I Ile ATC 0.481 148 12 12 Dolphin -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C65 0.00 141.80 Deleterious 0 III.75 221 PASS . . . . . . . . . . . . . . . . 0.21527778 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.662 . @ . . . . . 1 0.732 . . 144.0 . . . . . . . . . . 0.3114 0.254 0.311 c . . . . . 2.394e-05 . . . 0.0001 1.112e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.275 . . exonic exonic exonic . . 0.406 @ . . . 0.4 0.32 182 ENSG00000176945 MUC20 MUC20 . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . T 0.449 0.022 . . 37 . 0.408 . . 0.503 . . . 0.505 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.780 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 0 0.501 . . . . . 0.344 . 0.682 . HET 0.03 rs369019587 . . . . . . . . . . . . VIII.79 8.83E-4 . IV.52 III.63 . 0.030000 E9PH32 . . . . . 0.447 . . III.63 0.0108 0.0008 0.0003 0 0.0001 0 8.087e-05 0.0002 0.0005 0.0023 0.0020 0.0026 0.0039 0.0022 0.0010 0.0020 0.0024 . . 0.283 . 1.225 1.225000 . . 0.030000 . . 1.0E-221 0.999 0.424 . 0.529 0.228 . 0.347 . 0.669 1.225 0.897 . . rs71635065 rs71635065 rs369019587 1 1538 10 1/0 0,220,255 +rs149026852 3 195505801 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505801 195505801 Chr3(GRCh37):g.195505801G>A 12650 12650 NM_018406.6:c.12650C>T p.Ala4217Val p.Ala4217Val 2 158372 -141 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195505792 I.58 0.719051 3.03759 0.849945 rs149026852 no no 0 0.000000 0 0.000579 0.001915 0.000793 0.002368 0.001334 0.000177 0.000206 0.000071 0.001514 0.002368 76 22 13 13 7 3 12 1 5 131370 11490 16386 5490 5246 16932 58346 14178 3302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 22 13 13 7 3 12 1 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.974 A Ala GCA 0.226 V Val GTA 0.114 4217 12 2 Dog 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.12 III.91 113 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C12650T:p.A4217V MUC4:NM_018406:exon2:c.C12650T:p.A4217V . . 0.10858144 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.011 . . 571.0 . . . . . . . . . . -1.7646 -1.869 -1.765 c . . . . . . . . . 0.0043 0.0006 0 0 0 0.0001 0 0 0.0054 0.0007 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.073 @ . . . 0.22 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.064 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.162 . . 0.266 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.144 . . 0.040 . . . . . . 2 0.033 . . . . . 0.195 . 0.030 . LowAF . rs149026852 . . . . . . . . . . . . 6.1781 0.004286 . 0.93 -1.86 . . E7ESK3 . . . . . 0.004 . . . 0.0019 0.0006 0.0008 0.0024 0.0016 8.37e-05 0.0002 0.0019 0.0002 0.0020 0.0006 0 0 0 0 9.808e-05 0 . . 0.283 . -1.621 -1.621000 . . . . . 1.0E-113 0.000 0.063 . 0.016 0.294 . 0.229 . 0.004 -1.621 0.557 . . . rs200432267 rs200432267 1 1538 10 1/0 0,155,252 +rs199819876 3 195505814 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505814 195505814 Chr3(GRCh37):g.195505814C>T 12637 12637 NM_018406.6:c.12637G>A p.Asp4213Asn p.Asp4213Asn 2 158372 -154 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs199819876 yes no Frequency/1000G 2 0.000000 0 0.018970 0.015100 0.014300 0.016900 0.030800 0.018700 0.001878 0.003241 0.002059 0.000206 0.004808 0.001001 0.001020 0.004294 0.001130 0.004808 199 30 24 1 18 14 46 63 3 105942 9256 11656 4858 3744 13992 45110 14670 2656 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 199 30 24 1 18 14 46 63 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.102 0.286 D Asp GAC 0.539 N Asn AAC 0.536 4213 12 1 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.22 III.91 174 PASS . . . . . 0.015 0.019 0.019 0.017 0.031 0.014 . MUC4:uc021xjp.1:exon2:c.G12637A:p.D4213N MUC4:NM_018406:exon2:c.G12637A:p.D4213N . . 0.10998308 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.012 . . 591.0 . . . . . . . . . . -1.7849 -1.887 -1.785 c . . . . . . . . . 0.0014 0.0013 0 0 0 0.0022 0 0.0005 0 0.0003 0 0 0 0.0004 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . 0.0190 . . . 0.2 0.14 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.134 . . 0.247 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.098 . . 0 0 0 0 0 0 . 0.172 . . 0.063 . . . . . . 2 0.433 . . . . . 0.113 . 0.005 . LowAF . rs199819876 . . . . . . . . . . . . IV.34 0.0 . . . . . E7ESK3 . . . . . 0.003 . . . 0.0059 0.0021 0.0020 0.0002 0.0066 0.0046 0.0012 0.0015 0.0010 0.0013 0.0010 0.0036 0 0 0.0026 0.0004 0 . . 0.372 . -1.791 -1.791000 . . . . . 1.0E-174 0.000 0.063 . 0.016 0.135 . 0.002 . 0.002 -1.791 0.537 . . . rs199819876 rs199819876 1 1538 10 1/0 0,151,255 +rs200161977 3 195505932 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505932 195505932 Chr3(GRCh37):g.195505932G>C 12519 12519 NM_018406.6:c.12519C>G p.His4173Gln p.His4173Gln 2 158372 -272 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195505937 3.34011 0.194371 72.4027 7.19963 0.874772 85.0987 rs200161977 yes no Frequency 1 0.000000 0 0.000030 0.000184 0.000000 0.000000 0.000215 0.000000 0.000026 0.000000 0.000000 0.000215 3 1 0 0 1 0 1 0 0 99612 5430 17614 4474 4658 16564 37916 10408 2548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 194 Exomes transversion C G C>G 0.000 -0.602 H His CAC 0.587 Q Gln CAG 0.744 4173 12 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.22 III.91 166 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C12519G:p.H4173Q MUC4:NM_018406:exon2:c.C12519G:p.H4173Q . . 0.21568628 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.059 . . 306.0 . . . . . . . . . . -1.0232 -1.243 -1.023 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.042 0.002 . . 37 . 0.191 . . 0.176 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.116 . . 0 0 0 0 0 0 . 0.401 . . 0.429 . . . . . . 2 0.284 . . . . . 0.111 . 0.012 . HET . rs200161977 . . . . . . . . . . . . IV.73 . . . . . . E7ESK3 . . . . . 0.012 . . . 0.0002 3.012e-05 0 0 0.0002 0 2.637e-05 0 0 . . . . . . . . . . 0.372 . -0.530 -0.530000 . . . . . 1.0E-166 0.000 0.063 . 0.016 0.321 . 0.043 . 0.027 -0.530 0.000 . . . . . 1 1538 10 1/0 0,192,251 +rs148679127 3 195505944 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195505944 195505944 Chr3(GRCh37):g.195505944C>T 12507 12507 NM_018406.6:c.12507G>A p.Val4169= p.Val4169Val 2 158372 -284 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs148679127 yes no Frequency 1 0.000000 0 0.003914 0.049447 0.002421 0.001250 0.011100 0.000978 0.001672 0.001705 0.002615 0.049447 306 161 29 5 23 13 53 17 5 78186 3256 11980 4000 2072 13290 31706 9970 1912 0.000409 0.004300 0.000167 0.000000 0.000965 0.000301 0.000189 0.000401 0.000000 16 7 1 0 1 2 3 2 0 274 147 27 5 21 9 47 13 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.054 V Val GTG 0.468 V Val GTA 0.114 4169 255 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G12507A:p.V4169V MUC4:NM_018406:exon2:c.G12507A:p.V4169V . . 0.3705036 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 278.0 . . . . . . . . . . -0.8389 . . . . . . . . 9.383e-04 . . . 0.0178 0.0020 0 0 0 0 0 0.0002 0.0111 0.0011 0 0 0 0 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.15 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs148679127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0586 0.0040 0.0025 0.0013 0.0120 0.0018 0.0019 0.0029 0.0010 0.0213 0.0030 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199963450 rs199963450 1 1538 10 1/0 0,204,234 +rs200786826 3 195505945 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505945 195505945 Chr3(GRCh37):g.195505945A>G 12506 12506 NM_018406.6:c.12506T>C p.Val4169Ala p.Val4169Ala 2 158372 -285 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200786826 yes no Frequency 1 0.000000 0 0.001278 0.000993 0.001333 0.000968 0.007313 0.000698 0.001026 0.001605 0.001353 0.007313 112 5 19 4 19 10 36 16 3 87622 5034 14252 4132 2598 14326 35094 9968 2218 0.000137 0.000000 0.000000 0.000000 0.000770 0.000140 0.000114 0.000401 0.000000 6 0 0 0 1 1 2 2 0 100 5 19 4 17 8 32 12 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.690 V Val GTG 0.468 A Ala GCG 0.107 4169 12 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.63 III.91 255 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T12506C:p.V4169A MUC4:NM_018406:exon2:c.T12506C:p.V4169A . . 0.34736842 . . @ 99 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.016 . . 285.0 . . . . . . . . . . -1.0686 -1.231 -1.069 c . . . . . 4.704e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.398 . . exonic exonic exonic . . . @ . . . 0.21 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.057 0.003 . . 37 . 0.181 . . 0.103 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.378 . . 0.357 . . . . . . 2 0.020 . . . . . 0.047 . 0.024 . HET . rs200786826 . . . . . . . . . . . . II.24 . . . . . . E7ESK3 . . . . . 0.012 . . . 0.0011 0.0014 0.0014 0.0010 0.0079 0.0017 0.0012 0.0015 0.0007 0.0007 0.0001 0 0 0 0 0 0 . . 0.372 . 0.349 0.349000 . . . . . 1.0E-255 0.000 0.063 . 0.043 0.190 . 0.078 . 0.010 0.349 -0.653 . rs3107749 . rs200786826 rs200786826 1 1538 10 1/0 0,202,235 +rs112020305 3 195505960 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195505960 195505960 Chr3(GRCh37):g.195505960G>C 12491 12491 NM_018406.6:c.12491C>G p.Thr4164Ser p.Thr4164Ser 2 158372 -300 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 New Acceptor Site 195505959 8.15491 0.639145 85.1096 rs112020305 yes no Frequency/1000G 2 0.000000 0 0.003395 0.012900 0.000000 0.000000 0.000000 0.000000 0.006139 0.000497 0.002223 0.027841 0.004490 0.010886 0.006368 0.006825 0.005329 0.027841 509 5 31 73 19 118 208 43 12 82906 10054 13942 2622 4232 10840 32664 6300 2252 0.000024 0.000000 0.000143 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 507 5 29 73 19 118 208 43 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.898 0.286 T Thr ACC 0.361 S Ser AGC 0.243 4164 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.46 IV.32 204 PASS . . . . . 0.013 0.0034 . . . . . MUC4:uc021xjp.1:exon2:c.C12491G:p.T4164S MUC4:NM_018406:exon2:c.C12491G:p.T4164S . . 0.1684492 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.030 . . 374.0 . . . . . . . . . . -1.0011 -1.186 -1.001 c . . . . . 6.717e-05 . . . 0.0008 0.0004 0 0 0.0294 0 0 0 0.0011 0.0004 0 0 0.0031 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . . 0.0034 . . . 0.2 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.198 . . 0.153 . . . . 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.206 . . 0 0 0 0 0 0 . 0.378 . . 0.357 . . . . . . 2 0.149 . . . . . 0.178 . 0.028 . HET . rs112020305 . . . . . . . . . . . . V.29 0.09403 . . . . . E7ESK3 . . . . . 0.046 . . . 0.0005 0.0073 0.0023 0.0293 0.0049 0.0081 0.0080 0.0059 0.0109 0.0004 0.0004 0 0 0 0.0009 0.0003 0.0026 . . 0.283 . 0.073 0.073000 . . . . . 1.0E-204 0.000 0.063 . 0.090 0.012 . 0.215 . 0.246 0.073 0.557 . . . rs376166 rs112020305 1 1538 10 1/0 0,175,255 +rs143382980 3 195506196 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506196 195506196 Chr3(GRCh37):g.195506196A>G 12255 12255 NM_018406.6:c.12255T>C p.Asp4085= p.Asp4085Asp 2 158372 -536 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs143382980 yes no Frequency/1000G 2 0.000000 0 0.013778 0.013600 0.039900 0.002000 0.009900 0.000000 0.003135 0.001107 0.003731 0.001370 0.012464 0.003221 0.002172 0.004139 0.005177 0.012464 284 8 55 5 43 44 79 38 12 90598 7228 14742 3650 3450 13660 36368 9182 2318 0.002759 0.000830 0.003527 0.001096 0.010435 0.002928 0.001815 0.003703 0.005177 125 3 26 2 18 20 33 17 6 34 2 3 1 7 4 13 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.134 0.044 D Asp GAT 0.461 D Asp GAC 0.539 4085 184 PASS 0.09 0.14 0.1 0.22 0.12 0.014 0.014 . 0.002 0.0099 0.04 . MUC4:uc021xjp.1:exon2:c.T12255C:p.D4085D MUC4:NM_018406:exon2:c.T12255C:p.D4085D . . 0.12179487 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . -0.8173 . . . . . . . . 4.983e-03 . . . 0.0007 0.0048 0.0037 0.0485 0.0119 0.0085 0 0.0006 0 0.0008 0.0051 0.0068 0.0038 0 0 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0138 . . . 0.19 0.15 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs143382980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0033 0.0038 0.0014 0.0131 0.0042 0.0023 0.0057 0.0032 0.0009 0.0013 0 0 0.0039 0.0037 0.0012 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.22 . . rs143382980 rs143382980 1 1538 10 1/0 0,209,255 +rs150394536 3 195506245 C A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506245 195506245 Chr3(GRCh37):g.195506245C>A 12206 12206 NM_018406.6:c.12206G>T p.Ser4069Ile p.Ser4069Ile 2 158372 -585 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506233 1.54995 0.052994 7.32029 0.233278 77.8499 rs150394536 yes no Frequency/1000G 2 0.000000 0 0.002995 0.003800 0.009200 0.001000 0.000000 0.000000 0.002504 0.000808 0.003497 0.001189 0.011160 0.002789 0.001424 0.003170 0.001929 0.011160 242 7 59 5 46 43 53 24 5 96664 8664 16870 4206 4122 15418 37220 7572 2592 0.001655 0.000462 0.002608 0.000951 0.008248 0.001816 0.000645 0.002641 0.000772 80 2 22 2 17 14 12 10 1 82 3 15 1 12 15 29 4 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.976 -0.198 S Ser AGC 0.243 I Ile ATC 0.481 4069 12 1 -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C0 353.86 0.00 Tolerated 0.06 IV.32 204 PASS 0.14 0.19 0.18 0.26 0.16 0.0038 0.003 . 0.001 . 0.0092 . MUC4:uc021xjp.1:exon2:c.G12206T:p.S4069I MUC4:NM_018406:exon2:c.G12206T:p.S4069I . . 0.16891892 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.109 . @ . . . . . 1 0.193 . . 148.0 . . . . . . . . . . -1.2392 -1.348 -1.239 c . . . . . . . . . 0.0015 0.0004 0 0.0208 0 0.0002 0 0 0.0020 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.515 . . exonic exonic exonic . . . 0.0030 . . . 0.23 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.310 . . . . 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.247 . . 0 0 0 0 0 0 . 0.131 . . 0.093 . . . . . . 2 0.721 . . . . . 0.070 . 0.078 . HET . rs150394536 . . . . . . . 0.18543956043956045 0.1402439024390244 0.17955801104972377 0.26223776223776224 0.15963060686015831 III.13 0.017045 . . . . . E7ESK3 . . . . . 0.014 . . . 0.0012 0.0028 0.0036 0.0012 0.0124 0.0037 0.0015 0.0018 0.0028 0.0003 0.0007 0 0 0 0.0007 0.0010 0.0027 . . 0.283 . 0.488 0.488000 . . . . . 1.0E-204 0.000 0.063 . 0.043 0.006 . 0.005 . 0.006 0.488 -0.677 0.26 . . rs150394536 rs150394536 1 1538 10 1/0 0,215,255 +rs199833358 3 195506267 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506267 195506267 Chr3(GRCh37):g.195506267C>T 12184 12184 NM_018406.6:c.12184G>A p.Ala4062Thr p.Ala4062Thr 2 158372 -607 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs1045994646 no no 0 0.000000 0 0.006589 0.012900 0.014300 0.001000 0.001000 0.000000 0.002453 0.000613 0.002505 0.001833 0.010997 0.002554 0.001749 0.003017 0.002912 0.010997 219 5 41 7 43 37 58 21 7 89264 8162 16364 3818 3910 14486 33160 6960 2404 0.000986 0.000245 0.000733 0.001572 0.002558 0.001243 0.000663 0.002299 0.000832 44 1 6 3 5 9 11 8 1 131 3 29 1 33 19 36 5 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 A Ala GCC 0.403 T Thr ACC 0.361 4062 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.07 IV.32 204 PASS . . . . . 0.013 0.0066 . 0.001 0.001 0.014 . MUC4:uc021xjp.1:exon2:c.G12184A:p.A4062T MUC4:NM_018406:exon2:c.G12184A:p.A4062T . . 0.16923077 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.262 . @ . . . . . 1 0.002 . . 130.0 . . . . . . . . . . -1.2891 -1.406 -1.289 c . . . . . 2.410e-04 . . . 0.0016 0.0005 0 0.0208 0 0.0006 0 0 0.0021 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.392 . . exonic exonic exonic . . . 0.0066 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.209 . . 0.231 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.119 . . 0.013 . . . . . . 2 0.111 . . . . . 0.035 . 0.021 . HET . rs199833358 . . . . . . . . . . . . 2.1447 0.080479 . . . . . E7ESK3 . . . . . 0.004 . . . 0.0006 0.0026 0.0026 0.0019 0.0118 0.0035 0.0018 0.0029 0.0026 0.0006 0.0011 0 0 0.0029 0.0008 0.0014 0.0031 . . 0.059 . -0.417 -0.417000 . . . . . 1.0E-204 0.000 0.063 . 0.128 0.007 . 0.051 . 0.006 -0.417 -0.281 . . . rs370995233 rs370995233 1 1538 10 1/0 0,221,255 +rs77023345 3 195506271 A T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506271 195506271 Chr3(GRCh37):g.195506271A>T 12180 12180 NM_018406.6:c.12180T>A p.Gly4060= p.Gly4060Gly 2 158372 -611 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs77023345 yes no Frequency/1000G 2 0.000000 0 0.005990 0.011300 0.013300 0.001000 0.001000 0.000000 0.001944 0.000227 0.002710 0.000718 0.008940 0.002087 0.001127 0.002567 0.001481 0.008940 193 2 47 3 41 32 43 21 4 99260 8800 17344 4176 4586 15334 38140 8180 2700 0.000645 0.000000 0.000807 0.000479 0.001744 0.000913 0.000262 0.001956 0.000000 32 0 7 1 4 7 5 8 0 129 2 33 1 33 18 33 5 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.008 0.690 G Gly GGT 0.162 G Gly GGA 0.246 4060 212 PASS 0.13 0.19 0.18 0.26 0.19 0.011 0.006 . 0.001 0.001 0.013 . MUC4:uc021xjp.1:exon2:c.T12180A:p.G4060G MUC4:NM_018406:exon2:c.T12180A:p.G4060G . . 0.18518518 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . -0.5431 . . . . . . . . . . . . 0.0018 0.0005 0 0.0208 0 0.0004 0 0 0.0023 0.0003 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0060 . . . 0.22 0.12 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200897653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0021 0.0028 0.0007 0.0097 0.0030 0.0012 0.0013 0.0021 0 0.0005 0 0 0 0.0007 0.0007 0.0026 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . 0.26 . . rs77023345 rs77023345 1 1538 10 1/0 0,224,255 +rs201839412 3 195506291 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506291 195506291 Chr3(GRCh37):g.195506291C>T 12160 12160 NM_018406.6:c.12160G>A p.Ala4054Thr p.Ala4054Thr 2 158372 -631 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201839412 yes no Frequency/1000G 2 0.000000 0 0.093451 0.062800 0.121700 0.040700 0.174000 0.072000 0.000248 0.000571 0.000193 0.000000 0.000227 0.000606 0.000166 0.000133 0.000000 0.000606 27 4 3 0 1 10 7 2 0 108878 7010 15578 5356 4398 16494 42256 15004 2782 0.000018 0.000000 0.000000 0.000000 0.000000 0.000121 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 25 4 3 0 1 8 7 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.700 A Ala GCT 0.263 T Thr ACT 0.243 4054 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Deleterious 0.04 IV.32 255 PASS . . . . . 0.063 0.093 0.072 0.041 0.17 0.12 . MUC4:uc021xjp.1:exon2:c.G12160A:p.A4054T MUC4:NM_018406:exon2:c.G12160A:p.A4054T . . 0.5555556 . . @ 50 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.180 . . 90.0 . . . . . . . . . . -1.8869 -2.000 -1.887 c . . . . . . . . . 0.0007 0.0021 0 0.0045 0.0139 0.0028 0 0.0017 0.0010 0.0013 0 0.0036 0.0024 0 0 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . . 0.0935 . . . 0.24 0.16 182 ENSG00000145113 MUC4 MUC4 . . . 0.002 0.090 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.137 . . 0.199 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.151 . . 0.127 . . . . . . 2 0.010 . . . . . 0.048 . 0.014 . HET . rs201839412 . . . . . . . . . . . . 2.719 . . . . . . E7ESK3 . . . . . 0.003 . . . 0.0002 0.0002 0.0001 0 0 0 7.842e-05 0 0.0006 0.0011 0.0012 0.0029 0 0.0027 0.0018 0.001 0 . . 0.059 . -2.653 -2.653000 . . . . . 1.0E-255 0.000 0.063 . 0.062 0.557 . 0.005 . 0.004 -2.653 0.537 . rs62282475 . . . 1 1538 10 1/0 0,255,255 +rs201191776 3 195506292 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506292 195506292 Chr3(GRCh37):g.195506292A>G 12159 12159 NM_018406.6:c.12159T>C p.Asn4053= p.Asn4053Asn 2 158372 -632 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201191776 yes no Frequency/1000G 2 0.000000 0 0.118011 0.099800 0.151300 0.056500 0.193800 0.085000 0.000645 0.004237 0.000257 0.000000 0.000405 0.000805 0.000368 0.000259 0.000000 0.004237 53 24 3 0 1 10 12 3 0 82116 5664 11680 3602 2472 12426 32598 11578 2096 0.000219 0.002119 0.000000 0.000000 0.000000 0.000161 0.000123 0.000000 0.000000 9 6 0 0 0 1 2 0 0 35 12 3 0 1 8 8 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.125 N Asn AAT 0.464 N Asn AAC 0.536 4053 255 PASS . . . . . 0.1 0.12 0.085 0.057 0.19 0.15 . MUC4:uc021xjp.1:exon2:c.T12159C:p.N4053N MUC4:NM_018406:exon2:c.T12159C:p.N4053N . . 0.59770113 . . @ 52 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.4822 . . . . . . . . 1.895e-03 . . . 0.0023 0.0029 0 0.0065 0.0143 0.0036 0 0.0023 0.0031 0.0019 0 0.0050 0.0029 0 0 0.0023 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1180 . . . 0.22 0.12 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201191776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0004 0.0002 0 0 0 0.0003 0 0.0008 0.0049 0.0027 0.0035 0 0.0036 0.0033 0.0012 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201191776 rs201191776 1 1538 10 1/0 0,255,255 +rs199596856 3 195506293 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506293 195506293 Chr3(GRCh37):g.195506293T>C 12158 12158 NM_018406.6:c.12158A>G p.Asn4053Ser p.Asn4053Ser 2 158372 -633 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 New Acceptor Site 195506292 9.26334 0.46391 80.0861 rs199596856 yes no Frequency/1000G 2 0.000000 0 0.083467 0.052200 0.094100 0.041700 0.171000 0.062000 transition A G A>G 0.000 -0.360 N Asn AAT 0.464 S Ser AGT 0.149 4053 12 1 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.14 IV.32 255 PASS . . . . . 0.052 0.084 0.062 0.042 0.17 0.094 . MUC4:uc021xjp.1:exon2:c.A12158G:p.N4053S MUC4:NM_018406:exon2:c.A12158G:p.N4053S . . 0.4893617 . . @ 46 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.010 . . 94.0 . . . . . . . . . . -1.4294 -1.546 -1.429 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.269 . . exonic exonic exonic . . . 0.0835 . . . 0.27 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.112 . . 0.326 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.042 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.258 . . . . . 0.021 . 0.003 . HET . rs199596856 . . . . . . . . . . . . I.93 . . . . . . E7ESK3 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.059 . -0.423 -0.423000 . . . . . 1.0E-255 0.000 0.063 . 0.083 0.588 . 0.036 . 0.006 -0.423 -0.665 . . . . . 1 1538 10 1/0 0,255,255 +rs202108568 3 195506302 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506302 195506302 Chr3(GRCh37):g.195506302G>T 12149 12149 NM_018406.6:c.12149C>A p.Pro4050His p.Pro4050His 2 158372 -642 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs202108568 yes no Frequency 1 0.000000 0 0.000995 0.001205 0.000379 0.001458 0.000000 0.002722 0.000927 0.000000 0.001430 0.002722 135 13 8 9 0 53 47 0 5 135704 10786 21122 6174 7940 19474 50690 16022 3496 0.000383 0.000556 0.000000 0.000324 0.000000 0.000924 0.000473 0.000000 0.000572 26 3 0 1 0 9 12 0 1 83 7 8 7 0 35 23 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.016 1.255 P Pro CCT 0.283 H His CAT 0.413 4050 12 1 -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 353.86 0.00 Deleterious 0.01 IV.32 160 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C12149A:p.P4050H MUC4:NM_018406:exon2:c.C12149A:p.P4050H . . 0.11016949 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.172 . @ . . . . . 1 0.142 . . 118.0 . . . . . . . . . . -1.2586 -1.380 -1.259 c . . . . . 9.275e-04 . . . 0.0021 0.0023 0 0 0 0.0009 0 0.0039 0.0020 0.0026 0 0 0 0.0016 0 0.0039 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.354 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.202 . . 0.238 . . . . 0.186 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.238 . . 0.173 . . . . . . 2 0.546 . . . . . 0.223 . 0.045 . LowAF . rs202108568 . . . . . . . . . . . . VI.67 0.003534 . . . . . E7ESK3 . . . . . 0.009 . . . 0.0012 0.0010 0.0004 0.0015 0 0 0.0009 0.0016 0.0027 0.0013 0.0007 0 0 0 0 0.0008 0 . . 0.059 . 0.488 0.488000 . . . . . 1.0E-160 0.000 0.063 . 0.150 0.715 . 0.107 . 0.193 0.488 0.000 . . . . . 1 1538 10 1/0 0,224,255 +rs878859422 3 195506306 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506306 195506306 Chr3(GRCh37):g.195506306G>C 12145 12145 NM_018406.6:c.12145C>G p.Leu4049Val p.Leu4049Val 2 158372 -646 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs878859422 no no 0 0.000000 0 0.000209 0.000590 0.000258 0.000000 0.000097 0.000194 0.000162 0.000251 0.000000 0.000590 31 7 6 0 1 4 9 4 0 148384 11862 23226 6920 10356 20612 55490 15952 3966 0.000067 0.000169 0.000086 0.000000 0.000000 0.000097 0.000036 0.000125 0.000000 5 1 1 0 0 1 1 1 0 21 5 4 0 1 2 7 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.602 L Leu CTT 0.129 V Val GTT 0.178 4049 12 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.14 IV.32 248 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C12145G:p.L4049V MUC4:NM_018406:exon2:c.C12145G:p.L4049V . . 0.2919708 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.067 . . 137.0 . . . . . . . . . . -1.1089 -1.298 -1.109 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.363 . . exonic exonic exonic . . 0.089 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.188 . . 0.158 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.047 . . 0 0 0 0 0 0 . 0.378 . . 0.357 . . . . . . 2 0.020 . . . . . 0.118 . 0.014 . HET . . . . . . . . . . . . . . IV.65 . . 0.613 -1.23 . . E7ESK3 . . . . . 0.005 . . . 0.0008 0.0002 0.0003 0 0.0001 0.0003 0.0002 0 0.0002 0.0002 6.843e-05 0 0 0 0 0 0 . . 0.059 . -0.401 -0.401000 . . . . . 1.0E-248 0.001 0.137 . 0.152 0.756 . 0.236 . 0.193 -0.401 0.557 . . . . . 1 1538 10 1/0 0,234,255 +rs62282465 3 195506315 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506315 195506315 Chr3(GRCh37):g.195506315T>C 12136 12136 NM_018406.6:c.12136A>G p.Thr4046Ala p.Thr4046Ala 2 158372 -655 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs62282465 yes no Frequency/1000G 2 0.000000 0 0.112021 0.081700 0.128800 0.059500 0.199800 0.095100 0.005910 0.002002 0.005297 0.008523 0.028874 0.006112 0.004345 0.004795 0.005506 0.028874 661 17 90 45 139 100 187 67 16 111848 8490 16990 5280 4814 16360 43034 13974 2906 0.000715 0.000942 0.000235 0.001515 0.000415 0.000978 0.000697 0.000859 0.000000 40 4 2 4 1 8 15 6 0 581 9 86 37 137 84 157 55 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.198 T Thr ACC 0.361 A Ala GCC 0.403 4046 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.38 IV.32 255 PASS . . . . . 0.082 0.11 0.095 0.059 0.2 0.13 . MUC4:uc021xjp.1:exon2:c.A12136G:p.T4046A MUC4:NM_018406:exon2:c.A12136G:p.T4046A . . 0.6086956 . . @ 70 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.111 . . 115.0 . . . . . . . . . . -1.0418 -1.169 -1.042 c . . . . . . . . . 0.0014 0.0082 0.0112 0.0593 0.0143 0.0095 0 0.0064 0.0010 0.0061 0.0152 0.0380 0.0013 0.0065 0 0.0064 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.299 . . exonic exonic exonic . . 0.167 0.1120 . . . 0.3 0.21 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . 0.134 . . . . . . . . . 37 . 0.135 . . 0.161 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.232 . . 0 0 0 0 0 0 . 0.334 . . 0.223 . . . . . . 2 0.052 . . . . . 0.071 . 0.020 . HET . rs201554885 . . . . . . . . . . . . III.23 0.010714 . 0.613 0.613 . . E7ESK3 . . . . . 0.023 . . . 0.0029 0.0065 0.0054 0.0087 0.0315 0.0053 0.0049 0.0059 0.0061 0.0008 0.0004 0 0 0 0 0.0002 0.0027 . . 0.059 . 0.522 0.522000 . . . . . 1.0E-255 0.000 0.063 . 0.154 0.741 . 0.076 . 0.193 0.522 0.000 . rs62282465 . rs62282465 rs62282465 1 1538 10 1/0 0,255,255 +rs62282466 3 195506318 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506318 195506318 Chr3(GRCh37):g.195506318C>G 12133 12133 NM_018406.6:c.12133G>C p.Asp4045His p.Asp4045His 2 158372 -658 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs62282466 yes no Frequency/1000G 2 0.000000 0 0.115016 0.090000 0.131900 0.060500 0.199800 0.095100 0.008029 0.006339 0.008221 0.010504 0.046855 0.008079 0.005516 0.005474 0.006963 0.046855 717 33 106 45 143 110 196 68 16 89302 5206 12894 4284 3052 13616 35530 12422 2298 0.000829 0.001537 0.000465 0.001867 0.000655 0.001175 0.000619 0.000966 0.000000 37 4 3 4 1 8 11 6 0 643 25 100 37 141 94 174 56 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.732 D Asp GAC 0.539 H His CAC 0.587 4045 12 1 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 353.86 0.00 Tolerated 0.16 IV.32 255 PASS 0.17 0.2 0.16 0.25 0.21 0.09 0.12 0.095 0.06 0.2 0.13 . MUC4:uc021xjp.1:exon2:c.G12133C:p.D4045H MUC4:NM_018406:exon2:c.G12133C:p.D4045H . . 0.59292036 . . @ 67 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.028 . . 113.0 . . . . . . . . . . -1.3958 -1.520 -1.396 c . . . . . . . . . 0.0032 0.0086 0.0127 0.0571 0.0167 0.0099 0 0.0065 0.0034 0.0067 0.0169 0.0423 0.0014 0.0070 0 0.0066 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.089 0.1150 . . . 0.24 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.053 . . . . . . . Benign . 0 . 0.098 . . . . . . . . . 37 . 0.000 . . 0.404 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 2 0.128 . . . . . 0.001 . 0.045 . HET . rs536864339 . . . . . . . 0.20238095238095238 0.17479674796747968 0.1574585635359116 0.2465034965034965 0.20844327176781002 0.1337 0.094643 . 0.613 -1.23 . . E7ESK3 . . . . . 0.002 . . . 0.0078 0.0087 0.0085 0.0106 0.0518 0.0058 0.0061 0.0076 0.0081 0.0044 0.0022 0 0 0.0032 0.0024 0.0010 0.0032 . . 0.059 . -1.325 -1.325000 . . . . . 1.0E-255 0.000 0.063 . 0.157 0.731 . 0.018 . 0.188 -1.325 0.000 0.25 rs62282466 . rs62282466 rs62282466 1 1538 10 1/0 0,255,255 +rs202026273 3 195506510 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506510 195506510 Chr3(GRCh37):g.195506510G>C 11941 11941 NM_018406.6:c.11941C>G p.His3981Asp p.His3981Asp 2 158372 -850 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195506513 3.34011 0.32653 72.4027 7.66477 0.682296 77.9229 rs202026273 yes no Frequency/1000G 2 0.000000 0 0.060903 0.051400 0.063400 0.027800 0.120300 0.037500 0.000570 0.000577 0.000193 0.002005 0.000000 0.001194 0.000495 0.000273 0.000000 0.002005 56 4 3 9 0 18 19 3 0 98290 6928 15542 4488 4338 15080 38354 10982 2578 0.000285 0.000289 0.000000 0.001783 0.000000 0.000531 0.000209 0.000182 0.000000 14 1 0 4 0 4 4 1 0 28 2 3 1 0 10 11 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -2.700 H His CAC 0.587 D Asp GAC 0.539 3981 12 2 Mouse 0 -1 -2 0.58 I.38 10.IV 13 96 54 81 C0 353.86 0.00 Deleterious 0 IV.32 251 PASS . . . . . 0.051 0.061 0.037 0.028 0.12 0.063 . MUC4:uc021xjp.1:exon2:c.C11941G:p.H3981D MUC4:NM_018406:exon2:c.C11941G:p.H3981D . . 0.3125 . . @ 15 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.042 . . 48.0 . . . . . . . . . . -1.7631 -1.929 -1.763 c . . . . . . . . . 0.0039 0.0078 0.0041 0 0 0.0068 0.0139 0.0100 0.0061 0.0071 0.0054 0 0.0024 0.0033 0.0132 0.0100 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . . 0.0609 . . . 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.002 0.091 . . . . . . . Benign . 0 . 0.098 . . . . . . . . . 37 . 0.174 . . 0.245 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.025 . . 0 0 0 0 0 0 . 0.317 . . 0.399 . . . . . . 2 0.010 . . . . . 0.068 . 0.062 . HET . rs202026273 . . . . . . . . . . . . III.86 . . . . . . E7ESK3 . . . . . 0.003 . . . 0.0005 0.0006 6.599e-05 0.0020 0 0.0002 0.0005 0 0.0012 0.0007 0.0007 0.0052 0 0 0.0009 0.0005 0 . . 0.059 . -2.711 -2.711000 . . . . . 1.0E-251 0.000 0.063 . 0.120 0.015 . 0.011 . 0.003 -2.711 -2.200 . . . rs202026273 rs202026273 1 1538 10 1/0 0,255,255 +rs187734372 3 195506514 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506514 195506514 Chr3(GRCh37):g.195506514T>G 11937 11937 NM_018406.6:c.11937A>C p.Thr3979= p.Thr3979Thr 2 158372 -854 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs187734372 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000800 0.000000 0.001000 0.000000 0.000000 0.000090 0.000000 0.000108 0.000220 0.000000 0.000122 0.000094 0.000000 0.000341 0.000220 10 0 2 1 0 2 4 0 1 111040 8806 18528 4548 6348 16416 42530 10928 2936 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 1 0 0 0 0 0 1 0 0 8 0 2 1 0 2 2 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -0.037 T Thr ACA 0.280 T Thr ACC 0.361 3979 240 PASS 0.03 0.05 0.04 0.08 0.03 0.0008 0.0004 . 0.001 . . . MUC4:uc021xjp.1:exon2:c.A11937C:p.T3979T MUC4:NM_018406:exon2:c.A11937C:p.T3979T . . 0.2777778 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.3849 . . . . . . . . 1.530e-03 . . . 0 0.0002 0.0042 0 0 0.0003 0 0 0 0.0002 0.0056 0 0 0.0005 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.29 0.23 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs187734372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0.0001 0.0002 0 0 0.0001 0.0004 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . 0.08 . . rs187734372 rs187734372 1 1538 10 1/0 0,255,255 +. 3 195506517 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506517 195506517 Chr3(GRCh37):g.195506517G>A 11934 11934 NM_018406.6:c.11934C>T p.Ser3978= p.Ser3978Ser 2 158372 -857 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 0.000009 0.000000 0.000054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000054 1 0 1 0 0 0 0 0 0 110942 9036 18428 4796 5986 16320 41924 11524 2928 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.024 -0.763 S Ser TCC 0.220 S Ser TCT 0.185 3978 233 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11934T:p.S3978S MUC4:NM_018406:exon2:c.C11934T:p.S3978S . . 0.25490198 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.5060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.007e-05 5.564e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199874579 3 195506521 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506521 195506521 Chr3(GRCh37):g.195506521G>A 11930 11930 NM_018406.6:c.11930C>T p.Ala3977Val p.Ala3977Val 2 158372 -861 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506512 2.69504 0.623307 3.86683 0.715767 rs199874579 yes no Frequency/1000G 2 0.000000 0 0.043331 0.045400 0.047000 0.012900 0.072600 0.036000 0.000093 0.000590 0.000253 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000590 9 4 4 0 0 0 0 1 0 96414 6782 15798 4156 4176 14614 37178 11240 2470 0.000062 0.000295 0.000253 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 1 2 0 0 0 0 0 0 3 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 0.044 A Ala GCA 0.226 V Val GTA 0.114 3977 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.16 IV.32 255 PASS . . . . . 0.045 0.043 0.036 0.013 0.073 0.047 . MUC4:uc021xjp.1:exon2:c.C11930T:p.A3977V MUC4:NM_018406:exon2:c.C11930T:p.A3977V . . 0.33333334 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.285 . . 45.0 . . . . . . . . . . -1.8701 -1.952 -1.870 c . . . . . . . . . 0.0031 0.0003 0 0 0 0 0 0 0.0016 0.0001 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . . 0.0433 . . . 0.28 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.120 . . 0.278 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.126 . . 0.063 . . . . . . 2 0.051 . . . . . 0.145 . 0.034 . HET . rs199874579 . . . . . . . . . . . . V.22 0.011111 . . . . . E7ESK3 . . . . . 0.012 . . . 0.0011 9.333e-05 0.0003 0 0 0 0 0 0 0 9.346e-05 0 0 0 0.0007 0 0 . . 0.059 . -1.711 -1.711000 . . . . . 1.0E-255 0.001 0.137 . 0.157 0.104 . 0.150 . 0.246 -1.711 -0.617 . . . rs199874579 rs199874579 1 1538 10 1/0 0,255,255 +rs536593912 3 195506531 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506531 195506531 Chr3(GRCh37):g.195506531G>T 11920 11920 NM_018406.6:c.11920C>A p.Arg3974Ser p.Arg3974Ser 2 158372 -871 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 New Acceptor Site 195506529 6.25932 0.504015 rs536593912 yes no Frequency/1000G 2 0.000000 0 0.012780 0.032500 0.000000 0.003000 0.014900 0.004300 0.000240 0.000723 0.000000 0.000723 0.002218 0.000206 0.000086 0.000000 0.000000 0.002218 22 4 0 3 9 3 3 0 0 91622 5536 15740 4152 4058 14548 34904 10310 2374 0.000109 0.000361 0.000000 0.000482 0.001479 0.000000 0.000000 0.000000 0.000000 5 1 0 1 3 0 0 0 0 12 2 0 1 3 3 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.893 R Arg CGT 0.082 S Ser AGT 0.149 3974 12 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Tolerated 0.39 IV.32 255 PASS . . . . . 0.033 0.013 0.0043 0.003 0.015 . . MUC4:uc021xjp.1:exon2:c.C11920A:p.R3974S MUC4:NM_018406:exon2:c.C11920A:p.R3974S . . 0.35 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.024 . . 40.0 . . . . . . . . . . -2.0290 -2.131 -2.029 c . . . . . 1.612e-03 . . . 0 0.0012 0 0 0 0.0006 0 0.0020 0 0.0014 0 0.0154 0 0.0005 0 0.0020 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.510 . . exonic exonic exonic . . . 0.0128 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.055 . 5 7.69515e-05 64976 1 1.66706e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.230 . . 0.163 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.064 . . 0 0 0 0 0 0 . 0.184 . . 0.063 . . . . . . 2 0.241 . . . . . 0.194 . 0.124 . HET . rs536593912 . . . . . . . . . . . . 6.1553 . . . . . . E7ESK3 . . . . . 0.002 . . . 0.0009 0.0002 0 0.0007 0.0022 0 9.701e-05 0 0.0002 0.0005 0.0002 0 0 0.0026 0 0 0 . . 0.059 . -2.068 -2.068000 . . . . . 1.0E-255 0.000 0.063 . 0.016 0.029 . 0.044 . 0.001 -2.068 -2.009 . . . . . 1 1538 10 1/0 0,255,255 +rs200412534 3 195506542 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506542 195506542 Chr3(GRCh37):g.195506542G>T 11909 11909 NM_018406.6:c.11909C>A p.Pro3970His p.Pro3970His 2 158372 -882 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200412534 yes no Frequency/1000G 2 0.000000 0 0.120607 0.110400 0.140100 0.052600 0.194800 0.103700 0.002495 0.005066 0.002332 0.001162 0.002613 0.001270 0.003343 0.000406 0.003110 0.005066 279 39 44 6 18 22 136 5 9 111836 7698 18866 5162 6888 17318 40688 12322 2894 0.000089 0.000779 0.000106 0.000000 0.000000 0.000000 0.000049 0.000000 0.000000 5 3 1 0 0 0 1 0 0 269 33 42 6 18 22 134 5 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -0.037 P Pro CCT 0.283 H His CAT 0.413 3970 12 1 -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 353.86 0.00 Deleterious 0.01 IV.32 255 PASS . . . . . 0.11 0.12 0.1 0.053 0.19 0.14 . MUC4:uc021xjp.1:exon2:c.C11909A:p.P3970H MUC4:NM_018406:exon2:c.C11909A:p.P3970H . . 0.41666666 . . @ 30 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.160 . @ . . . . . 1 0.160 . . 72.0 . . . . . . . . . . -0.6473 -0.932 -0.647 c . . . . . . . . . 0.0021 0.0003 0 0 0 0.0003 0 0 0.0031 0.0006 0 0 0.0038 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.346 . . exonic exonic exonic . . . 0.1206 . . . 0.21 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.376 . . 0.198 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.764 . . 0.774 . . . . . . 2 0.501 . . . . . 0.213 . 0.051 . HET . rs200412534 . . . . . . . . . . . . VI.41 0.016556 . . . . . E7ESK3 . . . . . 0.017 . . . 0.0036 0.0025 0.0024 0.0012 0.0028 0.0005 0.0036 0.0035 0.0013 0.0070 0.0028 0 0 0 0 0.0015 0 . . 0.283 . 0.419 0.419000 . . . . . 1.0E-255 0.000 0.063 . 0.074 0.044 . 0.134 . 0.246 0.419 0.060 . . . rs200412534 rs200412534 1 1538 10 1/0 0,255,255 +. 3 195506723 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506723 195506723 Chr3(GRCh37):g.195506723T>C 11728 11728 NM_018406.6:c.11728A>G p.Thr3910Ala p.Thr3910Ala 2 158372 -1063 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506713 4.08677 0.091453 71.6229 4.87568 0.192144 71.6229 0.000010 0.000000 0.000000 0.000000 0.000000 0.000066 0.000000 0.000000 0.000000 0.000066 1 0 0 0 0 1 0 0 0 97852 6998 16256 4124 3826 15192 38240 10664 2552 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.591 -2.619 T Thr ACT 0.243 A Ala GCT 0.263 3910 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0.04 IV.32 182 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11728G:p.T3910A MUC4:NM_018406:exon2:c.A11728G:p.T3910A . . 0.11570248 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.065 . . 121.0 . . . . . . . . . . -1.9946 -2.103 -1.995 c . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.336 . . exonic exonic exonic . . . @ . . . 0.28 0.21 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.086 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.169 0.006 . . 37 . 0.162 . . 0.174 . . . . 0.537 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.152 . . 0 0 0 0 0 0 . 0.135 . . 0.080 . . . . . . 2 0.574 . . . . . 0.035 . 0.016 . LowAF . . . . . . . . . . . . . . 2.1529 . . . . . . E7ESK3 . . . . . 0.007 . . . 0 1.118e-05 0 0 0 0 0 0 6.582e-05 0 0 0 0 0 0 0 0 . . 0.283 . -2.418 -2.418000 . . . . . 1.0E-182 0.000 0.063 . 0.100 0.008 . 0.004 . 0.006 -2.418 -1.866 . . . . . 1 1538 10 1/0 0,221,255 +rs878968946 3 195506740 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506740 195506740 Chr3(GRCh37):g.195506740G>C 11711 11711 NM_018406.6:c.11711C>G p.Pro3904Arg p.Pro3904Arg 2 158372 -1080 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs878968946 yes no Frequency/1000G 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120462 5788 20566 5642 9576 19032 44310 12424 3124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 143 Exomes transversion C G C>G 0.520 0.286 P Pro CCT 0.283 R Arg CGT 0.082 3904 12 1 -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Deleterious 0.01 IV.32 219 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11711G:p.P3904R MUC4:NM_018406:exon2:c.C11711G:p.P3904R . . 0.20634921 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.160 . @ . . . . . 1 0.074 . . 126.0 . . . . . . . . . . -1.2464 -1.362 -1.246 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.154 . . 0.282 . . . . 0.243 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.151 . . 0.063 . . . . . . 2 0.682 . . . . . 0.047 . 0.051 . HET . rs202189235 . . . . . . . . . . . . II.46 . . . . . . E7ESK3 . . . . . 0.035 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.283 . 0.064 0.064000 . . . . . 1.0E-219 0.000 0.063 . 0.120 0.010 . 0.118 . 0.196 0.064 -0.219 . . . . . 1 1538 10 1/0 0,227,255 +rs192522651 3 195506746 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506746 195506746 Chr3(GRCh37):g.195506746G>A 11705 11705 NM_018406.6:c.11705C>T p.Ala3902Val p.Ala3902Val 2 158372 -1086 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs192522651 yes no Frequency/1000G 2 0.000000 0 0.000211 0.000000 0.000320 0.000511 0.002332 0.000139 0.000055 0.000096 0.000000 0.002332 20 0 5 2 8 2 2 1 0 94616 7838 15642 3916 3430 14388 36562 10408 2432 0.000169 0.000000 0.000256 0.000511 0.001749 0.000139 0.000055 0.000000 0.000000 8 0 2 1 3 1 1 0 0 4 0 1 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.370 -0.279 A Ala GCC 0.403 V Val GTC 0.240 3902 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.07 IV.32 194 PASS 0.02 0.05 0.05 0.1 0.03 . . . . . . . MUC4:uc021xjp.1:exon2:c.C11705T:p.A3902V MUC4:NM_018406:exon2:c.C11705T:p.A3902V . . 0.14166667 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.083 . @ . . . . . 1 0.227 . . 120.0 . . . . . . . . . . -1.2326 -1.355 -1.233 c . . . . . 3.896e-04 . . . 0 0.0001 0 0 0 0.0004 0 0 0 0.0001 0 0 0 0.0006 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . . @ . . . 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.004 . . 0.246 . . . . 0.241 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.152 . . 0 0 0 0 0 0 . 0.228 . . 0.093 . . . . . . 2 0.524 . . . . . 0.051 . 0.059 . LowAF . rs192522651 . . . . . . . 0.04945054945054945 0.016260162601626018 0.052486187845303865 0.0979020979020979 0.032981530343007916 II.56 0.005814 . . . . . E7ESK3 . . . . . 0.026 . . . 0 0.0002 0.0003 0.0005 0.0022 0.0001 6.231e-05 0 0.0001 0 0.0001 0 0 0.0035 0 0 0 . . 0.059 . 0.064 0.064000 . . . . . 1.0E-194 0.007 0.175 . 0.083 0.016 . 0.175 . 0.196 0.064 -0.219 0.1 . . rs192522651 rs192522651 1 1538 10 1/0 0,223,255 +rs62282470 3 195506747 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506747 195506747 Chr3(GRCh37):g.195506747C>T 11704 11704 NM_018406.6:c.11704G>A p.Ala3902Thr p.Ala3902Thr 2 158372 -1087 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs62282470 yes no Frequency/1000G 2 0.000000 0 0.110423 0.028700 0.161600 0.053600 0.225600 0.109500 0.000802 0.001384 0.000250 0.003035 0.000428 0.000908 0.000913 0.000000 0.001232 0.003035 102 12 5 17 4 17 43 0 4 127208 8672 20004 5602 9342 18722 47106 14514 3246 0.000079 0.000231 0.000000 0.000000 0.000214 0.000107 0.000085 0.000000 0.000000 5 1 0 0 1 1 2 0 0 92 10 5 17 2 15 39 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.291 -2.216 A Ala GCC 0.403 T Thr ACC 0.361 3902 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.38 IV.32 255 PASS 0.08 0.09 0.07 0.06 0.13 0.029 0.11 0.11 0.054 0.23 0.16 . MUC4:uc021xjp.1:exon2:c.G11704A:p.A3902T MUC4:NM_018406:exon2:c.G11704A:p.A3902T . . 0.66972476 . . @ 73 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.142 . @ . . . . . 1 0.131 . . 109.0 . . . . . . . . . . -1.8627 -1.986 -1.863 c . . . . . . . . . 0.0035 0.0019 0.0038 0 0 0.0022 0 0.0012 0.0054 0.0014 0 0 0 0.0015 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . . 0.1104 . ENSG00000215837.7 Artery_Tibial 0.22 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.068 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.002 . . 0.191 . . . . 0.212 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.028 . . 0 0 0 0 0 0 . 0.269 . . 0.063 . . . . . . 2 0.010 . . . . . 0.036 . 0.028 . HET . rs200436603 . . . . . . . 0.09386446886446886 0.07926829268292683 0.07458563535911603 0.06468531468531469 0.1345646437994723 2.1866 0.007752 . . . . . E7ESK3 . . . . . 0.002 . . . 0.0011 0.0008 0.0003 0.0031 0.0005 0 0.0009 0.0014 0.0009 0.0018 0.0009 0 0 0 0 0.0008 0 . . 0.059 . -2.037 -2.037000 . . . . . 1.0E-255 0.004 0.165 . 0.062 0.018 . 0.143 . 0.004 -2.037 -1.877 0.13 rs62282470 . rs62282470 rs62282470 1 1538 10 1/0 0,255,255 +rs62282471 3 195506750 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506750 195506750 Chr3(GRCh37):g.195506750G>C 11701 11701 NM_018406.6:c.11701C>G p.His3901Asp p.His3901Asp 2 158372 -1090 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195506753 0.001699 59.0917 1.35045 0.057392 64.6118 rs62282471 yes no Frequency/1000G 2 0.000000 0 0.110423 0.028700 0.161600 0.053600 0.225600 0.109500 0.000628 0.001178 0.000143 0.002651 0.000291 0.000714 0.000680 0.000000 0.001140 0.002651 85 11 3 16 3 14 34 0 4 135262 9336 21006 6036 10314 19602 50000 15460 3508 0.000044 0.000214 0.000000 0.000000 0.000194 0.000000 0.000040 0.000000 0.000000 3 1 0 0 1 0 1 0 0 79 9 3 16 1 14 32 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.220 -2.377 H His CAC 0.587 D Asp GAC 0.539 3901 12 1 0 -1 -2 0.58 I.38 10.IV 13 96 54 81 C0 353.86 0.00 Tolerated 0.38 IV.32 255 PASS 0.02 0.04 0.04 0.01 0.07 0.029 0.11 0.11 0.054 0.23 0.16 . MUC4:uc021xjp.1:exon2:c.C11701G:p.H3901D MUC4:NM_018406:exon2:c.C11701G:p.H3901D . . 0.6551724 . . @ 76 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.175 . @ . . . . . 1 0.168 . . 116.0 . . . . . . . . . . -2.0105 -2.121 -2.010 c . . . . . . . . . 0.0035 0.0016 0.0038 0 0 0.0022 0 0.0007 0.0054 0.0012 0 0 0 0.0015 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . . 0.1104 . ENSG00000242086.4|ENSG00000215837.7|ENSG00000215837.7|ENSG00000271662.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000215837.7|ENSG00000215837.7|ENSG00000271662.1|ENSG00000215837.7 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.076 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.010 . . 0.189 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . 0.151 . . 0.013 . . . . . . 2 0.010 . . . . . 0.159 . 0.039 . HET . rs201713696 . . . . . . . 0.039377289377289376 0.022357723577235773 0.04419889502762431 0.01048951048951049 0.06992084432717678 V.44 0.003922 . . . . . E7ESK3 . . . . . 0.004 . . . 0.0007 0.0006 0.0001 0.0027 0.0003 0 0.0007 0.0013 0.0007 0.0019 0.0009 0 0 0 0 0.0008 0 . . 0.059 . -2.418 -2.418000 . . . . . 1.0E-255 0.000 0.063 . 0.043 0.033 . 0.029 . 0.003 -2.418 -2.254 0.07 rs62282471 . rs62282471 rs62282471 1 1538 10 1/0 0,255,255 +rs879667630 3 195506752 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506752 195506752 Chr3(GRCh37):g.195506752C>T 11699 11699 NM_018406.6:c.11699G>A p.Arg3900His p.Arg3900His 2 158372 -1092 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs879667630 yes no Frequency/1000G 2 0.000000 0 0.012580 0.000000 0.039900 0.003000 0.014900 0.008600 transition G A G>A 0.213 -0.198 R Arg CGT 0.082 H His CAT 0.413 3900 12 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Deleterious 0.02 IV.32 222 PASS . . . . . . 0.013 0.0086 0.003 0.015 0.04 . MUC4:uc021xjp.1:exon2:c.G11699A:p.R3900H MUC4:NM_018406:exon2:c.G11699A:p.R3900H . . 0.21621622 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.188 . @ . . . . . 1 0.139 . . 111.0 . . . . . . . . . . -1.1344 -1.288 -1.134 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.307 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.115 . . 0.190 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.357 . . 0.112 . . . . . . 2 0.327 . . . . . 0.051 . 0.024 . HET . rs199792563 . . . . . . . . . . . . II.56 . . . . . . E7ESK3 . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.059 . 0.064 0.064000 . . . . . 1.0E-222 0.000 0.063 . 0.074 0.045 . 0.063 . 0.192 0.064 0.057 . . . . . 1 1538 10 1/0 0,233,255 +rs62282473 3 195506760 T A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506760 195506760 Chr3(GRCh37):g.195506760T>A 11691 11691 NM_018406.6:c.11691A>T p.Ala3897= p.Ala3897Ala 2 158372 -1100 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506761 3.68278 0.031374 71.6229 4.08677 0.122816 71.6229 rs62282473 yes no Frequency/1000G 2 0.000000 0 0.098243 0.016600 0.149300 0.052600 0.200800 0.099400 0.000100 0.000318 0.000046 0.000000 0.000096 0.000050 0.000136 0.000000 0.000275 0.000318 14 3 1 0 1 1 7 0 1 140094 9442 21828 6994 10468 19824 51456 16444 3638 0.000014 0.000212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 12 1 1 0 1 1 7 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.449 -0.198 A Ala GCA 0.226 A Ala GCT 0.263 3897 255 PASS 0.01 0.03 0.06 0.02 0.05 0.017 0.098 0.099 0.053 0.2 0.15 . MUC4:uc021xjp.1:exon2:c.A11691T:p.A3897A MUC4:NM_018406:exon2:c.A11691T:p.A3897A . . 0.7291667 . . @ 105 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 144.0 . . . . . . . . . . -0.4954 . . . . . . . . 9.723e-05 . . . 0.0017 0.0003 0 0 0 0.0002 0 0 0.0027 0.0002 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0982 . . . 0.29 0.2 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs62282473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 9.375e-05 4.686e-05 0 0.0001 0 0.0001 0.0003 5.044e-05 0.0003 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.06 rs62282473 . rs62282473 rs62282473 1 1538 10 1/0 0,247,244 +. 3 195506770 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506770 195506770 Chr3(GRCh37):g.195506770G>A 11681 11681 NM_018406.6:c.11681C>T p.Thr3894Ile p.Thr3894Ile 2 158372 -1110 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506761 3.68278 0.031374 71.6229 4.72129 0.045819 74.3348 0.000022 0.000000 0.000000 0.000000 0.000000 0.000045 0.000039 0.000000 0.000000 0.000045 3 0 0 0 0 1 2 0 0 138024 5940 22736 7810 9934 22106 51268 14614 3616 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 123 Exomes transition C T C>T 0.992 0.932 T Thr ACT 0.243 I Ile ATT 0.356 3894 12 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.09 IV.32 191 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11681T:p.T3894I MUC4:NM_018406:exon2:c.C11681T:p.T3894I . . 0.13636364 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.116 . . 154.0 . . . . . . . . . . -1.0270 -1.223 -1.027 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . . @ . . . 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.198 0.007 . . 37 . 0.146 . . 0.154 . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.352 . . 0 0 0 0 0 0 . 0.475 . . 0.315 . . . . . . 2 0.599 . . . . . 0.178 . 0.019 . LowAF . . . . . . . . . . . . . . 5.844 . . . . . . E7ESK3 . . . . . 0.031 . . . 0 2.174e-05 0 0 0 0 3.901e-05 0 4.524e-05 . . . . . . . . . . 0.059 . 0.064 0.064000 . . . . . 1.0E-191 0.000 0.063 . 0.095 0.040 . 0.024 . 0.196 0.064 0.562 . . . rs199933549 rs199933549 1 1538 10 1/0 0,211,255 +rs79121739 3 195506771 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506771 195506771 Chr3(GRCh37):g.195506771T>G 11680 11680 NM_018406.6:c.11680A>C p.Thr3894Pro p.Thr3894Pro 2 158372 -1111 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506761 3.68278 0.031374 71.6229 5.73459 0.265431 74.1881 rs79121739 yes no Frequency/1000G 2 0.000000 0 0.012580 0.006100 0.045000 0.002000 0.004000 0.007200 0.000065 0.000459 0.000000 0.000000 0.000000 0.000052 0.000067 0.000000 0.000311 0.000459 8 3 0 0 0 1 3 0 1 122778 6536 19016 7016 7020 19396 45080 15494 3220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 3 0 0 0 1 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.992 -0.037 T Thr ACT 0.243 P Pro CCT 0.283 3894 12 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.14 IV.32 133 PASS . . . . . 0.0061 0.013 0.0072 0.002 0.004 0.045 . MUC4:uc021xjp.1:exon2:c.A11680C:p.T3894P MUC4:NM_018406:exon2:c.A11680C:p.T3894P . . 0.125 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.039 . . 136.0 . . . . . . . . . . -0.9793 -1.173 -0.979 c . . . . . 1.446e-04 . . . 0.0016 0.0002 0 0 0 0.0002 0 0 0.0026 0.0001 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . . 0.0126 . . . 0.29 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . 52 0.000800296 64976 49 0.000816857 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.136 . . 0.145 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.475 . . 0.315 . . . . . . 2 0.282 . . . . . 0.047 . 0.029 . LowAF . rs79121739 . . . . . . . . . . . . II.94 . . . . . . E7ESK3 . . . . . 0.022 . . . 0 2.606e-05 0 0 0 0 4.745e-05 0 5.156e-05 0.0014 0.0007 0 0 0 0 0.0003 0.0039 . . 0.059 . 0.056 0.056000 . . . . . 1.0E-133 0.000 0.063 . 0.083 0.038 . 0.061 . 0.006 0.056 -0.547 . . . rs79121739 rs79121739 1 1538 10 1/0 0,218,255 +rs75856335 3 195506773 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506773 195506773 Chr3(GRCh37):g.195506773T>C 11678 11678 NM_018406.6:c.11678A>G p.Asp3893Gly p.Asp3893Gly 2 158372 -1113 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs75856335 yes no Frequency/1000G 2 0.000000 0 0.008387 0.003000 0.034800 0.000000 0.003000 0.001400 0.000054 0.000111 0.000000 0.000128 0.000000 0.000047 0.000072 0.000059 0.000000 0.000128 8 1 0 1 0 1 4 1 0 147462 9030 22576 7834 10480 21498 55174 16962 3908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 1 0 1 4 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.984 0.044 D Asp GAC 0.539 G Gly GGC 0.342 3893 12 1 -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.06 IV.32 171 PASS . . . . . 0.003 0.0084 0.0014 . 0.003 0.035 . MUC4:uc021xjp.1:exon2:c.A11678G:p.D3893G MUC4:NM_018406:exon2:c.A11678G:p.D3893G . . 0.12582782 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.196 . @ . . . . . 1 0.163 . . 151.0 . . . . . . . . . . -1.2771 -1.392 -1.277 c . . . . . 3.563e-04 . . . 0.0008 0.0006 0.0026 0 0 0.0008 0 0.0003 0.0012 0.0003 0 0 0 0.0002 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . . 0.0084 . . . 0.28 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.152 . . 0.280 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.151 . . 0.063 . . . . . . 2 0.251 . . . . . 0.035 . 0.043 . LowAF . rs75856335 . . . . . . . . . . . . 2.1364 . . . . . . E7ESK3 . . . . . 0.023 . . . 0 2.936e-05 0 0.0001 0 0 3.941e-05 0 4.652e-05 0.0003 0.0004 0 0 0 0.0005 0.0005 0 . . 0.059 . 0.056 0.056000 . . . . . 1.0E-171 0.000 0.063 . 0.074 0.039 . 0.006 . 0.007 0.056 -0.613 . . . rs75856335 rs75856335 1 1538 10 1/0 0,211,255 +rs76412708 3 195506778 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506778 195506778 Chr3(GRCh37):g.195506778G>A 11673 11673 NM_018406.6:c.11673C>T p.Val3891= p.Val3891Val 2 158372 -1118 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs76412708 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 145228 6210 23286 7990 10188 22518 55220 16026 3790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 132 Exomes transition C T C>T 1.000 2.546 V Val GTC 0.240 V Val GTT 0.178 3891 175 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11673T:p.V3891V MUC4:NM_018406:exon2:c.C11673T:p.V3891V . . 0.10326087 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 184.0 . . . . . . . . . . -0.4004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.18 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs76412708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs76412708 rs76412708 1 1538 10 1/0 0,200,255 +rs199983999 3 195506946 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506946 195506946 Chr3(GRCh37):g.195506946T>G 11505 11505 NM_018406.6:c.11505A>C p.Thr3835= p.Thr3835Thr 2 158372 -1286 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs199983999 yes no Frequency/1000G 2 0.000000 0 0.023562 0.088500 0.001000 0.000000 0.000000 0.000000 0.000150 0.001374 0.000000 0.000000 0.000000 0.000000 0.000054 0.000399 0.000000 0.001374 21 12 0 0 0 0 3 6 0 139720 8736 20378 7054 8710 19922 56054 15048 3818 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000133 0.000000 2 0 0 0 0 0 1 1 0 17 12 0 0 0 0 1 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.110 -0.117 T Thr ACA 0.280 T Thr ACC 0.361 3835 193 PASS . . . . . 0.088 0.024 . . . 0.001 . MUC4:uc021xjp.1:exon2:c.A11505C:p.T3835T MUC4:NM_018406:exon2:c.A11505C:p.T3835T . . 0.14084508 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 284.0 . . . . . . . . . . -0.4317 . . . . . . . . 1.274e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0236 . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs199983999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0001 0 0 0 0.0004 6.255e-05 0 0 0.0012 0.0003 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs375329116 rs375329116 1 1538 10 1/0 0,185,255 +rs71187740 3 195506953 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195506953 195506953 Chr3(GRCh37):g.195506953G>A 11498 11498 NM_018406.6:c.11498C>T p.Ala3833Val p.Ala3833Val 2 158372 -1293 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506944 2.45628 0.645482 3.62808 0.791765 rs71187740 yes no Frequency/1000G 2 0.000000 0 0.025959 0.063500 0.019400 0.004000 0.013900 0.013000 0.000841 0.001202 0.000980 0.000780 0.001317 0.000221 0.000801 0.000829 0.002449 0.001317 103 8 17 5 10 4 39 12 8 122532 6654 17340 6414 7594 18102 48692 14470 3266 0.000131 0.000301 0.000115 0.000312 0.000000 0.000000 0.000082 0.000138 0.001225 8 1 1 1 0 0 2 1 2 87 6 15 3 10 4 35 10 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.125 A Ala GCA 0.226 V Val GTA 0.114 3833 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Not scored 0.0 0.0 185 PASS . . . . . 0.064 0.026 0.013 0.004 0.014 0.019 . MUC4:uc021xjp.1:exon2:c.C11498T:p.A3833V MUC4:NM_018406:exon2:c.C11498T:p.A3833V . . 0.1237785 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.062 . @ . . . . . 1 0.227 . . 307.0 . . . . . . . . . . -1.8229 -1.926 -1.823 c . . . . . 6.053e-04 . . . 0 0.0006 0 0 0 0.0016 0 0 0 0.0003 0 0 0 0.0013 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . . 0.0260 . . . 0.22 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.231 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.236 . . 0 0 0 0 0 0 . 0.151 . . 0.093 . . . . . . 2 0.061 . . . . . 0.117 . 0.049 . LowAF . rs200568365 . . . . . . . . . . . . IV.62 0.094595 . . . . . E7ESK3 . . . . . 0.010 . . . 0.0019 0.0008 0.0009 0.0008 0.0012 0.0007 0.0008 0.0025 0.0002 0.0003 0.0008 0.0022 0 0.0020 0.0014 0.0006 0.0020 . . 0.283 . -2.068 -2.068000 . . . . . 1.0E-185 0.000 0.063 . 0.074 0.062 . 0.065 . 0.008 -2.068 -2.423 . . . rs200568365 rs200568365 1 1538 10 1/0 0,180,255 +rs201420433 3 195506955 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195506955 195506955 Chr3(GRCh37):g.195506955T>C 11496 11496 NM_018406.6:c.11496A>G p.Ser3832= p.Ser3832Ser 2 158372 -1295 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195506944 2.45628 0.645482 8.05864 0.725829 78.234 rs201420433 yes no Frequency 1 0.000000 0 0.000117 0.000337 0.000101 0.000000 0.000000 0.000051 0.000128 0.000203 0.000000 0.000337 16 3 2 0 0 1 7 3 0 136884 8908 19798 6996 8354 19548 54782 14792 3706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 2 0 0 1 7 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.016 -0.360 S Ser TCA 0.148 S Ser TCG 0.056 3832 195 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11496G:p.S3832S MUC4:NM_018406:exon2:c.A11496G:p.S3832S . . 0.14569536 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 302.0 . . . . . . . . . . -0.3469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.21 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs201420433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 7.449e-05 0.0001 0 0 0.0002 6.388e-05 0 5.116e-05 0.0006 0.0004 0 0 0 0.0004 0.0005 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs201420433 rs201420433 1 1538 10 1/0 0,183,255 +rs76834296 3 195507049 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507049 195507049 Chr3(GRCh37):g.195507049G>A 11402 11402 NM_018406.6:c.11402C>T p.Ala3801Val p.Ala3801Val 2 158372 -1389 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507040 I.58 0.662352 3.03759 0.814042 rs76834296 yes no Frequency 1 0.000000 0 0.000339 0.001367 0.000211 0.000149 0.000541 0.000114 0.000330 0.000225 0.000000 0.001367 44 13 4 1 4 2 16 4 0 129678 9508 18988 6704 7398 17538 48438 17762 3342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 13 4 1 4 2 16 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.286 A Ala GCA 0.226 V Val GTA 0.114 3801 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Not scored 0.0 0.0 199 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11402T:p.A3801V MUC4:NM_018406:exon2:c.C11402T:p.A3801V . . 0.15681234 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.193 . @ . . . . . 1 0.232 . . 389.0 . . . . . . . . . . -1.9112 -2.020 -1.911 c . . . . . 1.770e-04 . . . 0.0008 0.0004 0 0.0020 0 0.0006 0 0.0001 0 0.0002 0 0.0030 0 0.0003 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . . @ . . . 0.24 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.247 . . . . T 0.079 0.003 . . 37 . 0.130 . . 0.145 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.232 . . 0 0 0 0 0 0 . 0.151 . . 0.093 . . . . . . 2 0.010 . . . . . 0.117 . 0.041 . HET . rs76834296 . . . . . . . . . . . . IV.62 0.04902 . . . . . E7ESK3 . . . . . 0.003 . . . 0.0007 0.0002 0.0002 0.0002 0.0002 0 0.0001 0 0.0001 0.0020 0.0014 0 0 0.0023 0.0014 0.0012 0 . . 0.283 . -2.068 -2.068000 . . . . . 1.0E-199 0.000 0.063 . 0.108 0.219 . 0.006 . 0.008 -2.068 -2.423 . . . rs76834296 rs76834296 1 1538 10 1/0 0,173,255 +rs76367261 3 195507059 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507059 195507059 Chr3(GRCh37):g.195507059T>C 11392 11392 NM_018406.6:c.11392A>G p.Thr3798Ala p.Thr3798Ala 2 158372 -1399 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507049 3.68278 0.040806 71.6229 4.47168 0.083347 71.6229 rs76367261 yes no Frequency 1 0.000000 0 0.000069 0.000274 0.000050 0.000000 0.000102 0.000000 0.000091 0.000000 0.000000 0.000274 10 3 1 0 1 0 5 0 0 144510 10932 19886 7742 9762 19828 54790 17684 3886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 1 0 1 0 5 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.850 -0.117 T Thr ACT 0.243 A Ala GCT 0.263 3798 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11392G:p.T3798A MUC4:NM_018406:exon2:c.A11392G:p.T3798A . . 0.15424165 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.076 . . 389.0 . . . . . . . . . . -1.8607 -1.942 -1.861 c . . . . . . . . . 0 5.541e-05 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . . @ . . . 0.29 0.24 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.039 . . . . T 0.311 0.012 . . 37 . 0.159 . . 0.147 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.178 . . 0 0 0 0 0 0 . 0.135 . . 0.080 . . . . . . 2 0.145 . . . . . 0.117 . 0.031 . HET . rs76367261 . . . . . . . . . . . . IV.71 0.00165 . . . . . E7ESK3 . . . . . 0.044 . . . 0.0006 7.895e-05 5.187e-05 0 0.0001 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . 0.283 . -2.094 -2.094000 . . . . . 1.0E-177 0.032 0.204 . 0.143 0.460 . 0.023 . 0.007 -2.094 0.615 . . . rs76367261 rs76367261 1 1538 10 1/0 0,173,255 +rs774134232 3 195507064 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507064 195507064 Chr3(GRCh37):g.195507064G>C 11387 11387 NM_018406.6:c.11387C>G p.Thr3796Ser p.Thr3796Ser 2 158372 -1404 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 New Acceptor Site 195507063 7.29327 0.357979 82.3367 0.000611 0.000936 0.000532 0.000120 0.000703 0.000000 0.000477 0.001858 0.000212 0.001858 106 14 13 1 8 0 32 37 1 173548 14954 24436 8314 11382 22738 67090 19912 4722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 14 13 1 8 0 32 37 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.945 0.609 T Thr ACC 0.361 S Ser AGC 0.243 3796 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Not scored 0.0 0.0 181 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11387G:p.T3796S MUC4:NM_018406:exon2:c.C11387G:p.T3796S . . 0.114754096 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.032 . . 427.0 . . . . . . . . . . -0.9440 -1.148 -0.944 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.377 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.059 . . . . T 0.268 0.010 . . 37 . 0.229 . . 0.203 . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.061 . . 0 0 0 0 0 0 . 0.424 . . 0.395 . . . . . . 2 0.285 . . . . . 0.178 . 0.026 . LowAF . . . . . . . . . . . . . . 5.844 . . . . . . E7ESK3 . . . . . 0.043 . . . 0.0001 0.0001 0.0001 0.0001 0.0003 0.0001 0.0001 0 0 0.0016 0.0036 0.0137 0 0.0033 0.0112 0.0024 0.0012 . . 0.283 . 0.064 0.064000 . . . . . 1.0E-181 0.001 0.137 . 0.166 0.414 . 0.233 . 0.196 0.064 0.562 . . . . . 1 1538 10 1/0 0,165,255 +rs78552467 3 195507083 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507083 195507083 Chr3(GRCh37):g.195507083T>C 11368 11368 NM_018406.6:c.11368A>G p.Thr3790Ala p.Thr3790Ala 2 158372 -1423 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs78552467 yes no Frequency/1000G 2 0.000000 0 0.157947 0.180000 0.168700 0.069400 0.229600 0.125400 0.001232 0.004843 0.000531 0.001396 0.000479 0.000791 0.001203 0.000690 0.001743 0.004843 159 49 11 9 5 14 55 10 6 129064 10118 20704 6446 10436 17696 45736 14486 3442 0.000015 0.000198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 157 47 11 9 5 14 55 10 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.795 -0.117 T Thr ACC 0.361 A Ala GCC 0.403 3790 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 211 PASS . . . . . 0.18 0.16 0.13 0.069 0.23 0.17 . MUC4:uc021xjp.1:exon2:c.A11368G:p.T3790A MUC4:NM_018406:exon2:c.A11368G:p.T3790A . . 0.25846153 . . @ 84 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.071 . . 325.0 . . . . . . . . . . -1.0393 -1.201 -1.039 c . . . . . 1.554e-03 . . . 0.0075 0.0021 0.0026 0 0 0.0022 0 0.0013 0.0083 0.0018 0 0 0.0019 0.0018 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . . 0.1579 . . . 0.29 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . 0.112 . . . . . . . . . 37 . 0.128 . . 0.165 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.221 . . 0 0 0 0 0 0 . 0.378 . . 0.250 . . . . . . 2 0.136 . . . . . 0.051 . 0.019 . HET . rs78552467 . . . . . . . . . . . . II.04 0.001684 . . . . . E7ESK3 . . . . . 0.034 . . . 0.0052 0.0010 0.0004 0.0014 0.0004 0.0005 0.0011 0.0010 0.0008 0.0045 0.0027 0.0035 0 0.0007 0.0017 0.0018 0.0054 . . 0.372 . 0.056 0.056000 . . . . . 1.0E-211 0.737 0.288 . 0.161 0.252 . 0.524 . 0.196 0.056 -0.547 . . . rs78552467 rs78552467 1 1538 15 1/0 0,191,254 +rs769637445 3 195507092 T A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507092 195507092 Chr3(GRCh37):g.195507092T>A 11359 11359 NM_018406.6:c.11359A>T p.Thr3787Ser p.Thr3787Ser 2 158372 -1432 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs769637445 yes no Frequency 1 0.000000 0 0.000965 0.002459 0.000829 0.000000 0.000735 0.000000 0.000810 0.002181 0.001316 0.002459 163 34 20 0 8 0 53 42 6 168904 13828 24136 8262 10880 22570 65416 19254 4558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 163 34 20 0 8 0 53 42 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.150 0.528 T Thr ACA 0.280 S Ser TCA 0.148 3787 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Not scored 0.0 0.0 214 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11359T:p.T3787S MUC4:NM_018406:exon2:c.A11359T:p.T3787S . . 0.19512194 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.039 . . 369.0 . . . . . . . . . . -1.2329 -1.338 -1.233 c . . . . . 1.415e-05 . . . 0 5.354e-05 0 0 0 0.0001 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.093 . . . . T 0.095 0.004 . . 37 . 0.157 . . 0.305 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 2 0.082 . . . . . 0.035 . 0.039 . HET . rs769637445 . . . . . . . . . . . . 2.1364 . . . . . . E7ESK3 . . . . . 0.018 . . . 0.0003 0.0001 0.0003 0 0.0001 5.95e-05 0.0002 0 0 0.0047 0.0069 0.0237 0 0.0058 0.0167 0.0047 0.0088 . . 0.283 . 0.056 0.056000 . . . . . 1.0E-214 0.000 0.063 . 0.143 0.053 . 0.077 . 0.247 0.056 0.615 . . . . . 1 1538 10 1/0 0,179,255 +rs760461796 3 195507109 T A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507109 195507109 Chr3(GRCh37):g.195507109T>A 11342 11342 NM_018406.6:c.11342A>T p.Asp3781Val p.Asp3781Val 2 158372 -1449 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507097 4.47168 0.060517 71.6229 6.83101 0.238538 77.4751 0.000465 0.001499 0.000364 0.000000 0.000219 0.000048 0.000399 0.000861 0.000724 0.001499 72 18 8 0 2 1 24 16 3 154940 12010 21996 7980 9150 20900 60186 18576 4142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 18 8 0 2 1 24 16 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.622 -0.682 D Asp GAC 0.539 V Val GTC 0.240 3781 12 1 -3 -3 -6 I.38 0 13 5.IX 54 84 152 C0 353.86 0.00 Not scored 0.0 0.0 185 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A11342T:p.D3781V MUC4:NM_018406:exon2:c.A11342T:p.D3781V . . 0.122857146 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.236 . @ . . . . . 1 0.075 . . 350.0 . . . . . . . . . . -1.2783 -1.379 -1.278 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.342 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.134 . . . . T 0.216 0.008 . . 37 . 0.162 . . 0.209 . . . . 0.401 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.112 . . 0.013 . . . . . . 2 0.357 . . . . . 0.035 . 0.146 . LowAF . . . . . . . . . . . . . . 2.1364 . . . . . . E7ESK3 . . . . . 0.042 . . . 0.0005 0.0001 9.285e-05 0 0 6.014e-05 0.0002 0 4.785e-05 0.0027 0.0033 0.0132 0 0.0019 0.0077 0.0020 0.0051 . . 0.283 . 0.056 0.056000 . . . . . 1.0E-185 0.000 0.063 . 0.016 0.006 . 0.000 . 0.012 0.056 -0.613 . . . . . 1 1538 10 1/0 0,174,255 +rs403778 3 195507110 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507110 195507110 Chr3(GRCh37):g.195507110C>T 11341 11341 NM_018406.6:c.11341G>A p.Asp3781Asn p.Asp3781Asn 2 158372 -1450 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs403778 yes no Frequency 1 0.000000 0 0.000660 0.001627 0.000267 0.000493 0.000290 0.000234 0.000786 0.000739 0.000936 0.001627 106 21 6 4 3 5 49 14 4 160718 12908 22482 8116 10330 21336 62336 18936 4274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 21 6 4 3 5 49 14 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.614 -0.117 D Asp GAC 0.539 N Asn AAC 0.536 3781 12 1 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Not scored 0.0 0.0 163 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G11341A:p.D3781N MUC4:NM_018406:exon2:c.G11341A:p.D3781N . . 0.10674157 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.321 . @ . . . . . 1 0.200 . . 356.0 . . . . . . . . . . -1.2241 -1.338 -1.224 c . . . . . 3.241e-04 . . . 0 0.0009 0 0 0 0.0015 0 0.0007 0 0.0007 0 0 0 0.0012 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.334 . . exonic exonic exonic . . . @ . . . 0.25 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.134 . . . . T 0.106 0.004 . . 37 . 0.130 . . 0.227 . . . . 0.295 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.050 . . 0 0 0 0 0 0 . 0.269 . . 0.063 . . . . . . 2 0.214 . . . . . 0.075 . 0.006 . LowAF . rs403778 . . . . . . . . . . . . III.85 . . . . . . E7ESK3 . . . . . 0.035 . . . 0.0008 0.0004 0.0001 0.0005 0.0001 5.998e-05 0.0006 0.0003 0.0002 0.0025 0.0028 0.0059 0 0.0016 0.0057 0.0021 0.0047 . . 0.283 . 0.064 0.064000 . . . . . 1.0E-163 0.000 0.063 . 0.016 0.008 . 0.001 . 0.001 0.064 -0.609 . . . rs403778 rs403778 1 1538 10 1/0 0,173,255 +rs446557 3 195507126 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195507126 195507126 Chr3(GRCh37):g.195507126C>G 11325 11325 NM_018406.6:c.11325G>C p.Thr3775= p.Thr3775Thr 2 158372 -1466 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs446557 yes no Frequency 1 0.000000 0 0.007109 0.022867 0.008734 0.003339 0.012023 0.005778 0.006985 0.002665 0.009136 0.022867 776 104 129 23 51 98 304 41 26 109162 4548 14770 6888 4242 16960 43522 15386 2846 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 776 104 129 23 51 98 304 41 26 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.339 -2.135 T Thr ACG 0.116 T Thr ACC 0.361 3775 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G11325C:p.T3775T MUC4:NM_018406:exon2:c.G11325C:p.T3775T . . 0.1373802 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 313.0 . . . . . . . . . . -0.9970 . . . . . . . . . . . . 0.0153 0.0190 0.0155 0.0035 0 0.0186 0.0103 0.0225 0.0107 0.0139 0.0143 0.0025 0 0.0083 0.0112 0.0225 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.2 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs446557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0252 0.0072 0.0088 0.0034 0.0140 0.0027 0.0072 0.0098 0.0058 0.0173 0.0058 0.0033 0 0.0015 0.0017 0.0040 0.0035 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs446557 rs446557 1 1538 10 1/0 0,181,255 +rs138135578 3 195507228 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507228 195507228 Chr3(GRCh37):g.195507228G>C 11223 11223 NM_018406.6:c.11223C>G p.His3741Gln p.His3741Gln 2 158372 -1568 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195507233 3.34011 0.120221 72.4027 7.19963 0.85076 85.0987 rs138135578 yes no Frequency 1 0.000000 0 0.002594 0.003839 0.001277 0.000815 0.001524 0.001139 0.002591 0.008781 0.005133 0.008781 230 35 20 3 8 17 82 53 12 88668 9116 15666 3680 5248 14930 31654 6036 2338 0.000045 0.000439 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 226 31 20 3 8 17 82 53 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.008 0.367 H His CAC 0.587 Q Gln CAG 0.744 3741 12 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Not scored 0.0 0.0 189 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C11223G:p.H3741Q MUC4:NM_018406:exon2:c.C11223G:p.H3741Q . . 0.13272311 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.111 . . 437.0 . . . . . . . . . . -0.8839 -1.121 -0.884 c . . . . . 7.232e-04 . . . 0.0048 0.0026 0 0 0.0278 0.0034 0.0143 0.0014 0.0041 0.0022 0 0 0.0043 0.0025 0.0125 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.080 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . 0.251 . . . . . . . . . 37 . 0.171 . . 0.258 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.528 . . 0.449 . . . . . . 2 0.306 . . . . . 0.151 . 0.025 . LowAF . rs138135578 . . . . . . . . . . . . 5.328 0.028701 . 0.885 -1.56 . . E7ESK3 . . . . . 0.083 . . . 0.0025 0.0019 0.0012 0.0008 0.0015 0.0046 0.0022 0.0045 0.0011 0.0055 0.0072 0.0063 0 0.0017 0.0291 0.0048 0.0091 . . 0.283 . -0.535 -0.535000 . . . . . 1.0E-189 0.001 0.137 . 0.016 0.099 . 0.114 . 0.027 -0.535 0.562 . . . rs375915811 rs375915811 1 1538 10 1/0 0,165,255 +rs112808291 3 195507242 C A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507242 195507242 Chr3(GRCh37):g.195507242C>A 11209 11209 NM_018406.6:c.11209G>T p.Ala3737Ser p.Ala3737Ser 2 158372 -1582 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507232 3.47098 0.744538 X.93 0.940884 84.1676 rs112808291 yes no Frequency/1000G 2 0.000000 0 0.010583 0.013600 0.008200 0.006900 0.013900 0.008600 transversion G T G>T 0.016 -1.409 A Ala GCA 0.226 S Ser TCA 0.148 3737 12 1 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Not scored 0.0 0.0 203 PASS . . . . . 0.014 0.011 0.0086 0.0069 0.014 0.0082 . MUC4:uc021xjp.1:exon2:c.G11209T:p.A3737S MUC4:NM_018406:exon2:c.G11209T:p.A3737S . . 0.16507177 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.109 . . 418.0 . . . . . . . . . . -1.3730 -1.489 -1.373 c . . . . . 9.793e-04 . . . 0.0115 0.0044 0 0 0.0333 0.0039 0.0147 0.0028 0.0092 0.0041 0 0 0.0064 0.0045 0.0227 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . . 0.0106 . . . 0.2 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . 0.111 . . . . . . . . . 37 . 0.131 . . 0.266 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.112 . . 0.040 . . . . . . 2 0.381 . . . . . 0.035 . 0.132 . HET . rs112808291 . . . . . . . . . . . . 2.155 0.257329 . . . . . E7ESK3 . . . . . 0.030 . . . . . . . . . . . . . . . . . . . . . . 0.372 . -0.927 -0.927000 . . . . . 1.0E-203 0.000 0.063 . 0.062 0.275 . 0.065 . 0.244 -0.927 0.057 . . . rs112808291 rs112808291 1 1538 10 1/0 0,170,253 +rs71187741 3 195507564 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507564 195507564 Chr3(GRCh37):g.195507564C>G 10887 10887 NM_018406.6:c.10887G>C p.Gln3629His p.Gln3629His 2 158372 -1904 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs71187741 yes no Frequency 1 0.000000 0 0.001582 0.004939 0.002802 0.000481 0.003136 0.000880 0.001680 0.000246 0.001880 0.004939 162 22 32 3 12 14 70 4 5 102432 4454 11420 6232 3826 15904 41666 16270 2660 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 162 22 32 3 12 14 70 4 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.394 1.013 Q Gln CAG 0.744 H His CAC 0.587 3629 12 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Not scored 0.0 0.0 192 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G10887C:p.Q3629H MUC4:NM_018406:exon2:c.G10887C:p.Q3629H . . 0.13919415 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.018 . . 546.0 . . . . . . . . . . -1.8123 -1.898 -1.812 c . . . . . 5.697e-04 . . . 0.0035 0.0011 0 0 0 0.0016 0 0.0004 0.0049 0.0004 0 0 0 0 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.352 . . exonic exonic exonic . . 0.174 @ . . . 0.14 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.204 . . 0.300 . . . . 0.235 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.167 . . . . . 0.192 . 0.037 . LowAF . rs71187741 . . . . . . . . . . . . 6.114 0.012456 . 0.743 0.743 . . E7ESK3 . . . . . 0.001 . . . 0.0130 0.0018 0.0029 0.0005 0.0044 0.0003 0.0019 0.0023 0.0009 0 0.0002 0 0 0 0 0.0004 0 . . 0.283 . -1.916 -1.916000 . . . . . 9.999999999999999E-193 0.000 0.063 . 0.062 0.019 . 0.007 . 0.005 -1.916 -2.298 . . . rs71187741 rs71187741 1 1538 10 1/0 0,156,251 +rs199957573 3 195507666 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195507666 195507666 Chr3(GRCh37):g.195507666T>G 10785 10785 NM_018406.6:c.10785A>C p.Thr3595= p.Thr3595Thr 2 158372 -2006 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs199957573 yes no Frequency 1 0.000000 0 0.000456 0.000651 0.000401 0.000414 0.000688 0.000368 0.000260 0.001378 0.000507 0.001378 32 3 5 1 4 4 7 7 1 70178 4608 12474 2418 5814 10878 26934 5078 1974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 3 5 1 4 4 7 7 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.521 T Thr ACA 0.280 T Thr ACC 0.361 3595 176 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A10785C:p.T3595T MUC4:NM_018406:exon2:c.A10785C:p.T3595T . . 0.11633109 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 447.0 . . . . . . . . . . -0.2756 . . . . . . . . . . . . 0.0126 0.0286 0.0114 0.0427 0 0.0325 0.0517 0.0278 0.0132 0.0359 0.0079 0.0484 0.0794 0.0378 0.0735 0.0278 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs199957573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0.0003 0.0004 0.0007 0.0002 0.0003 0.0005 0.0004 0.0042 0.0051 0.0071 0 0 0.0110 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +rs200882406 3 195507675 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195507675 195507675 Chr3(GRCh37):g.195507675T>C 10776 10776 NM_018406.6:c.10776A>G p.Ser3592= p.Ser3592Ser 2 158372 -2015 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507664 3.62808 0.791765 9.01784 0.838215 80.9459 rs200882406 yes no Frequency 1 0.000000 0 0.000347 0.001308 0.000195 0.000287 0.000471 0.000502 0.000181 0.000139 0.001266 0.001308 30 6 3 1 3 7 6 1 3 86544 4586 15402 3480 6366 13942 33210 7188 2370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 6 3 1 3 7 6 1 3 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 0.125 S Ser TCA 0.148 S Ser TCG 0.056 3592 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A10776G:p.S3592S MUC4:NM_018406:exon2:c.A10776G:p.S3592S . . 0.13131313 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 396.0 . . . . . . . . . . -0.2524 . . . . . . . . 8.660e-03 . . . 0.0089 0.0175 0.0105 0.0316 0 0.0202 0 0.0169 0.0124 0.0231 0.0072 0.0392 0.0585 0.0234 0.0349 0.0169 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs200882406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0004 0.0002 0.0003 0.0005 0.0002 0.0002 0.0013 0.0005 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +rs370221916 3 195507731 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507731 195507731 Chr3(GRCh37):g.195507731G>A 10720 10720 NM_018406.6:c.10720C>T p.Leu3574Phe p.Leu3574Phe 2 158372 -2071 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Weakly Activated 195507732 7.63351 0.325243 80.5719 8.15499 0.622424 80.5719 rs370221916 yes no Frequency/1000G 2 0.000000 0 0.360024 0.385800 0.258700 0.505000 0.328000 0.289600 0.000102 0.000000 0.000000 0.000000 0.000284 0.000000 0.000222 0.000000 0.000000 0.000284 8 0 0 0 1 0 7 0 0 78772 4982 12096 2888 3516 12172 31542 9536 2040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 1 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 L Leu CTT 0.129 F Phe TTT 0.454 3574 12 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Not scored 0.0 0.0 146 PASS . . . . . 0.39 0.36 0.29 0.51 0.33 0.26 . MUC4:uc021xjp.1:exon2:c.C10720T:p.L3574F MUC4:NM_018406:exon2:c.C10720T:p.L3574F . . 0.1212938 . . @ 45 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.049 . @ . . . . . 1 0.159 . . 371.0 . . . . . . . . . . -1.2352 -1.355 -1.235 c . . . . . 3.692e-05 . . . 0 0.0001 0 0 0 0 0 0.0002 0 0.0003 0 0 0.0014 0 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.336 . . exonic exonic exonic . . 0.085 0.3600 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.181 . . 0.229 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.268 . . 0.133 . . . . . . 2 0.450 . . . . . 0.161 . 0.036 . LowAF . rs370221916 . . . . . . . . . . . . 5.527 0.117834 . 1.II -1.38 . . E7ESK3 . . . . . 0.006 . . . 0 1.464e-05 0 0 0 0 3.809e-05 0 0 0 0.0007 0 0 0.0016 0 0.0011 0 . . 0.372 . 0.488 0.488000 . . . . . 1.0E-146 0.000 0.063 . 0.043 0.000 . 0.006 . 0.000 0.488 -2.237 . rs379344 . rs370221916 rs370221916 1 1538 14 1/0 0,174,255 +rs200231058 3 195507756 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195507756 195507756 Chr3(GRCh37):g.195507756C>G 10695 10695 NM_018406.6:c.10695G>C p.Gln3565His p.Gln3565His 2 158372 -2096 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200231058 yes no Frequency/1000G 2 0.000000 0 0.359625 0.400900 0.242300 0.503000 0.333000 0.276700 0.006329 0.003563 0.005495 0.000000 0.007042 0.000000 0.008085 0.004491 0.005556 0.008085 28 3 1 0 1 0 19 3 1 4424 842 182 60 142 0 2350 668 180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 3 1 0 1 0 19 3 1 0 0 0 0 0 0 0 0 0 RF 196 Genomes transversion G C G>C 0.000 -2.297 Q Gln CAG 0.744 H His CAC 0.587 3565 12 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Not scored 0.0 0.0 230 PASS . . . . . 0.4 0.36 0.28 0.5 0.33 0.24 . MUC4:uc021xjp.1:exon2:c.G10695C:p.Q3565H MUC4:NM_018406:exon2:c.G10695C:p.Q3565H . . 0.2428884 . . @ 111 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.012 . . 457.0 . . . . . . . . . . -1.9912 -2.115 -1.991 c . . . . . 3.695e-04 . . . 0.0031 0.0005 0 0 0 0.0008 0 0 0.0024 0.0001 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.352 . . exonic exonic exonic . . . @ . . . 0.12 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.074 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.159 . . 0.124 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.214 . . 0 0 0 0 0 0 . 0.268 . . 0.112 . . . . . . 2 0.207 . . . . . 0.075 . 0.058 . HET . rs200231058 . . . . . . . . . . . . III.25 0.161994 . . . . . E7ESK3 . . . . . 0.018 . . . . . . . . . . . . 0.0036 0.0063 0.0055 0 0.0070 0.0045 0.0081 0.0056 . . 0.372 . -2.387 -2.387000 . . . . . 1.0E-230 0.000 0.063 . 0.095 0.001 . 0.005 . 0.005 -2.387 -2.598 . . . rs140571210 rs140571210 1 1538 10 1/0 0,174,245 +rs879381207 3 195507762 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195507762 195507762 Chr3(GRCh37):g.195507762T>G 10689 10689 NM_018406.6:c.10689A>C p.Thr3563= p.Thr3563Thr 2 158372 -2102 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195507755 0.000408 3.17053 0.002631 72.9875 rs879381207 no no 0 0.000000 0 transversion A C A>C 0.000 0.044 T Thr ACA 0.280 T Thr ACC 0.361 3563 205 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A10689C:p.T3563T MUC4:NM_018406:exon2:c.A10689C:p.T3563T . . 0.17225951 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 447.0 . . . . . . . . . . -0.4829 . . . . . . . . 5.247e-05 . . . 0.0013 0.0001 0 0 0 0 0 0 0.0023 0.0001 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs2432534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs369666687 rs369666687 1 1538 10 1/0 0,168,255 +rs879439776 3 195508069 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508069 195508069 Chr3(GRCh37):g.195508069T>C 10382 10382 NM_018406.6:c.10382A>G p.Asp3461Gly p.Asp3461Gly 2 158372 -2409 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs879439776 yes no Frequency 1 0.000000 0 0.004171 0.055067 0.002881 0.000247 0.000229 0.000545 0.000257 0.000421 0.001995 0.055067 382 313 41 1 1 8 10 3 5 91592 5684 14230 4052 4358 14684 38952 7126 2506 0.000524 0.007741 0.000281 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 24 22 2 0 0 0 0 0 0 334 269 37 1 1 8 10 3 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.008 -1.812 D Asp GAC 0.539 G Gly GGC 0.342 3461 12 1 -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.15 III.91 154 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A10382G:p.D3461G MUC4:NM_018406:exon2:c.A10382G:p.D3461G . . 0.10653753 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.050 . . 413.0 . . . . . . . . . . -1.4556 -1.696 -1.456 c . . . . . 3.698e-03 . . . 0.1168 0.0120 0.0214 0.0054 0.0068 0.0030 0.0156 0.0012 0.0857 0.0077 0.0229 0.0054 0.0015 0.0036 0.0147 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.082 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.056 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.217 . . 0.139 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.520 . . 0.518 . . . . . . 2 0.318 . . . . . 0.086 . 0.043 . LowAF . rs200683272 . . . . . . . . . . . . 3.IX . . 0.743 -1.49 . . E7ESK3 . . . . . 0.033 . . . 0.0705 0.0036 0.0029 0.0003 0.0003 0.0003 0.0002 0.0024 0.0005 0.0353 0.0076 0.0031 0 0 0.0010 0.0005 0 . . 0.283 . -2.081 -2.081000 . . . . . 1.0E-154 0.001 0.137 . 0.142 0.034 . 0.018 . 0.196 -2.081 0.615 . . . rs370596732 rs370596732 1 1538 10 1/0 0,166,255 +rs201319965 3 195508070 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508070 195508070 Chr3(GRCh37):g.195508070C>T 10381 10381 NM_018406.6:c.10381G>A p.Asp3461Asn p.Asp3461Asn 2 158372 -2410 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201319965 yes no Frequency/1000G 2 0.000000 0 0.004393 0.012100 0.005100 0.000000 0.000000 0.001400 transition G A G>A 0.008 -1.489 D Asp GAC 0.539 N Asn AAC 0.536 3461 12 1 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.23 III.91 156 PASS . . . . . 0.012 0.0044 0.0014 . . 0.0051 . MUC4:uc021xjp.1:exon2:c.G10381A:p.D3461N MUC4:NM_018406:exon2:c.G10381A:p.D3461N . . 0.10144927 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.049 . @ . . . . . 1 0.061 . . 414.0 . . . . . . . . . . -1.4976 -1.713 -1.498 c . . . . . . . . . 0.1243 0.0136 0.0227 0.0061 0.0070 0.0035 0.0161 0.0016 0.0933 0.0090 0.0243 0.0061 0.0015 0.0043 0.0147 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.336 . . exonic exonic exonic . . 0.082 0.0044 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.044 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.172 . . 0.110 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.524 . . 0.414 . . . . . . 2 0.324 . . . . . 0.045 . 0.002 . LowAF . rs201319965 . . . . . . . . . . . . II.16 . . 0.743 -1.49 . . E7ESK3 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -1.862 -1.862000 . . . . . 1.0E-156 0.001 0.137 . 0.146 0.036 . 0.074 . 0.192 -1.862 0.542 . . . rs374027103 rs374027103 1 1538 10 1/0 0,166,255 +rs148923966 3 195508108 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508108 195508108 Chr3(GRCh37):g.195508108G>A 10343 10343 NM_018406.6:c.10343C>T p.Ser3448Leu p.Ser3448Leu 2 158372 -2448 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Weakly Activated 195508096 1.52515 0.674316 1.94543 0.740302 rs1011519559 no no 0 0.000000 0 0.000528 0.000611 0.000000 0.000000 0.001174 0.000000 0.000496 0.000000 0.001582 0.001174 11 4 0 0 1 0 5 0 1 20838 6552 524 216 852 0 10082 1980 632 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 4 0 0 1 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 64 Genomes transition C T C>T 0.000 -0.440 S Ser TCA 0.148 L Leu TTA 0.073 3448 12 1 -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Deleterious 0.01 III.91 193 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C10343T:p.S3448L MUC4:NM_018406:exon2:c.C10343T:p.S3448L . . 0.14166667 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.116 . . 480.0 . . . . . . . . . . -0.6791 -0.954 -0.679 c . . . . . 5.905e-03 . . . 0.0006 0.0011 0 0.0057 0 0.0016 0 0.0006 0.0009 0.0013 0 0.0096 0 0.0025 0 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.354 . . exonic exonic exonic . . 0.082 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.332 . . 0.211 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.289 . . 0 0 0 0 0 0 . 0.520 . . 0.653 . . . . . . 2 0.386 . . . . . 0.035 . 0.051 . LowAF . rs148923966 . 0.007 . . . . . . . . . . 2.1531 0.077941 . 0.743 -1.49 . . E7ESK3 . . . . . 0.072 . . . . . . . . . . . . 0.0006 0.0005 0 0 0.0012 0 0.0005 0.0016 . . 0.283 . 0.088 0.088000 . . . . . 1.0E-193 0.005 0.169 . 0.111 0.008 . 0.296 . 0.196 0.088 -0.628 . . . rs374140595 rs374140595 1 1538 10 1/0 0,162,253 +rs201933946 3 195508451 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508451 195508451 Chr3(GRCh37):g.195508451G>T 10000 10000 NM_018406.6:c.10000C>A p.Pro3334Thr p.Pro3334Thr 2 158372 -2791 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201933946 yes no Frequency 1 0.000000 0 0.000515 0.001572 0.000055 0.000000 0.000280 0.001827 0.000222 0.000136 0.000625 0.001827 63 14 1 0 1 32 11 2 2 122252 8906 18300 6438 3576 17514 49626 14692 3200 0.000065 0.000225 0.000000 0.000000 0.000000 0.000228 0.000040 0.000000 0.000000 4 1 0 0 0 2 1 0 0 55 12 1 0 1 28 9 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.079 -2.458 P Pro CCT 0.283 T Thr ACT 0.243 3334 12 2 Mouse -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Deleterious 0 IV.32 176 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C10000A:p.P3334T MUC4:NM_018406:exon2:c.C10000A:p.P3334T . . 0.10541311 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.064 . . 351.0 . . . . . . . . . . -2.0079 -2.087 -2.008 c . . . . . 7.201e-04 . . . 0.0007 0.0015 0.0027 0.0031 0 0.0011 0 0.0020 0.0011 0.0014 0.0036 0 0.0029 0.0002 0 0.0020 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.101 @ . . . 0.22 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.081 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.044 0.002 . . 37 . 0.101 . . 0.236 . . . . 0.207 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.131 . . 0.104 . . . . . . 2 0.052 . . . . . . . 0.021 . LowAF . rs201933946 . . . . . . . . . . . . . 0.064841 . 0.423 -0.846 . . E7ESK3 . . . . . 0.002 . . . 0.0022 0.0005 5.597e-05 0 0 7.683e-05 0.0001 0.0007 0.0018 0.0009 0.0009 0 0 0.0016 0.0006 0.0010 0 . . 0.283 . -1.978 -1.978000 . . . . . 1.0E-176 0.001 0.137 . 0.016 0.003 . 0.059 . 0.002 -1.978 -2.237 . . . rs201933946 rs201933946 1 1538 10 1/0 0,173,255 +rs148870692 3 195508500 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508500 195508500 Chr3(GRCh37):g.195508500G>C 9951 9951 NM_018406.6:c.9951C>G p.Asp3317Glu p.Asp3317Glu 2 158372 -2840 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs148870692 yes no Frequency 1 0.000000 0 0.001883 0.003608 0.000894 0.002592 0.000854 0.001802 0.002043 0.001885 0.002069 0.003608 241 33 17 16 7 32 100 29 7 128016 9146 19022 6172 8198 17756 48956 15382 3384 0.000687 0.000875 0.000105 0.001620 0.000000 0.001464 0.000531 0.000910 0.000591 44 4 1 5 0 13 13 7 1 151 25 15 6 7 6 72 15 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.448 D Asp GAC 0.539 E Glu GAG 0.583 3317 12 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 0.16 IV.32 213 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C9951G:p.D3317E MUC4:NM_018406:exon2:c.C9951G:p.D3317E . . 0.19344263 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.090 . @ . . . . . 1 0.096 . . 305.0 . . . . . . . . . . -0.9041 -1.087 -0.904 c . . . . . . . . . 0.0043 0.0193 0.0214 0 0.0435 0.0193 0.1304 0.0211 0.0067 0.0217 0.0283 0 0.0074 0.0275 0.1304 0.0212 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.156 @ . . . 0.2 0.26 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.147 . . 0.149 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.432 . . 0.330 . . . . . . 2 0.496 . . . . . . . 0.009 . HET . rs148870692 . . . . . . . . . . . . . . . 0.423 0.423 . . E7ESK3 . . . . . 0.033 . . . 0.0044 0.0015 0.0009 0.0025 0.0004 0.0012 0.0015 0.0014 0.0018 0.0026 0.0041 0.0017 0.0075 0.0034 0.0056 0.0046 0.0050 . . 0.283 . 0.494 0.494000 . . . . . 1.0E-213 0.000 0.063 . 0.043 0.001 . 0.038 . 0.009 0.494 -1.805 . . . rs374619108 rs374619108 1 1538 10 1/0 0,187,255 +rs879281830 3 195508523 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508523 195508523 Chr3(GRCh37):g.195508523C>T 9928 9928 NM_018406.6:c.9928G>A p.Ala3310Thr p.Ala3310Thr 2 158372 -2863 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs879281830 yes no Frequency 1 0.000000 0 0.000534 0.004296 0.000579 0.000419 0.000127 0.000206 0.000277 0.000174 0.000280 0.004296 73 35 11 3 1 4 15 3 1 136602 8148 19006 7160 7902 19450 54110 17258 3568 0.000132 0.001473 0.000316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 9 6 3 0 0 0 0 0 0 55 23 5 3 1 4 15 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.031 -2.377 A Ala GCC 0.403 T Thr ACC 0.361 3310 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.19 IV.32 196 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G9928A:p.A3310T MUC4:NM_018406:exon2:c.G9928A:p.A3310T . . 0.14981273 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.112 . @ . . . . . 1 0.208 . . 267.0 . . . . . . . . . . -1.8990 -2.006 -1.899 c . . . . . 1.863e-03 . . . 0.0092 0.0027 0 0 0 0.0020 0 0.0015 0.0068 0.0023 0 0 0.0047 0.0017 0 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.082 @ . . . 0.24 0.28 182 ENSG00000145113 MUC4 MUC4 . . . 0.001 0.079 . . . . . . . Likely_benign . 0 . . . . . . T 0.009 0.001 . . 37 . 0.146 . . 0.247 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.147 . . 0.013 . . . . . . 2 0.061 . . . . . 0.022 . 0.040 . LowAF . rs149395491 . . . . . . . . . . . . I.46 . . 0.743 -1.49 . . E7ESK3 . . . . . 0.002 . . . 0.0047 0.0005 0.0006 0.0004 0.0001 6.674e-05 0.0003 0.0003 0.0002 0.0038 0.0011 0 0 0 0.0009 0.0004 0 . . 0.283 . -1.984 -1.984000 . . . . . 1.0E-196 0.000 0.063 . 0.016 0.001 . 0.021 . 0.002 -1.984 -2.391 . . . . . 1 1538 10 1/0 0,188,255 +rs140709056 3 195508526 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508526 195508526 Chr3(GRCh37):g.195508526G>C 9925 9925 NM_018406.6:c.9925C>G p.His3309Asp p.His3309Asp 2 158372 -2866 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195508529 3.34011 0.32653 72.4027 7.66477 0.682296 77.9229 rs140709056 yes no Frequency 1 0.000000 0 0.000422 0.003255 0.000552 0.000134 0.000116 0.000199 0.000191 0.000057 0.000262 0.003255 61 31 11 1 1 4 11 1 1 144488 9524 19934 7436 8630 20148 57552 17442 3822 0.000111 0.001050 0.000301 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 5 3 0 0 0 0 0 0 45 21 5 1 1 4 11 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.039 1.255 H His CAC 0.587 D Asp GAC 0.539 3309 12 1 0 -1 -2 0.58 I.38 10.IV 13 96 54 81 C0 353.86 0.00 Tolerated 0.23 IV.32 193 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C9925G:p.H3309D MUC4:NM_018406:exon2:c.C9925G:p.H3309D . . 0.1423611 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.182 . . 288.0 . . . . . . . . . . -1.1300 -1.285 -1.130 c . . . . . . . . . 0.0086 0.0023 0 0 0 0.0012 0 0.0015 0.0062 0.0019 0 0 0.0047 0.0006 0 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.276 . . exonic exonic exonic . . 0.174 @ . . . 0.18 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . . . . . . T 0.008 0.001 . . 37 . 0.135 . . 0.164 . . . . 0.202 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.380 . . 0.256 . . . . . . 2 0.010 . . . . . 0.121 . 0.111 . LowAF . rs140709056 . . . . . . . . . . . . IV.07 . . 0.743 0.743 . . E7ESK3 . . . . . 0.011 . . . 0.0032 0.0003 0.0006 0.0001 0.0001 0 0.0002 0.0003 0.0002 0.0033 0.0010 0 0 0 0.0004 0.0004 0 . . 0.283 . 0.088 0.088000 . . . . . 1.0E-193 0.000 0.063 . 0.062 0.001 . 0.011 . 0.007 0.088 -2.254 . . . . . 1 1538 10 1/0 0,184,255 +rs757957414 3 195508667 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508667 195508667 Chr3(GRCh37):g.195508667T>C 9784 9784 NM_018406.6:c.9784A>G p.Thr3262Ala p.Thr3262Ala 2 158372 -3007 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs757957414 yes no Frequency 1 0.000000 0 0.000180 0.000229 0.000332 0.000449 0.000000 0.000000 0.000246 0.000000 0.000000 0.000449 14 2 4 1 0 0 7 0 0 77642 8726 12040 2228 5962 9390 28402 8928 1966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 2 4 1 0 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.024 -2.700 T Thr ACC 0.361 A Ala GCC 0.403 3262 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0.04 IV.32 201 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A9784G:p.T3262A MUC4:NM_018406:exon2:c.A9784G:p.T3262A . . 0.22477064 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.039 . . 218.0 . . . . . . . . . . -1.6538 -1.807 -1.654 c . . . . . 2.703e-04 . . . 0 0.0007 0 0 0 0.0022 0 0 0 0.0003 0 0 0 0.0017 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.330 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.003 0.099 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.166 . . 0.262 . . . . 0.276 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 0 0 . 0.317 . . 0.431 . . . . . . 2 0.148 . . . . . 0.013 . 0.025 . HET . rs757957414 . . . . . . . . . . . . 0.9524 . . 1.III -2.05 . . E7ESK3 . . . . . 0.025 . . . 0.0002 0.0002 0.0003 0.0005 0 0 0.0002 0 0 0.0003 0.0003 0 0 0 0 0.0005 0 . . 0.283 . -2.465 -2.465000 . . . . . 1.0E-201 0.000 0.063 . 0.062 0.412 . 0.019 . 0.007 -2.465 0.615 . . . . . 1 1538 10 1/0 0,206,255 +rs796595385 3 195508668 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508668 195508668 Chr3(GRCh37):g.195508668G>C 9783 9783 NM_018406.6:c.9783C>G p.Asp3261Glu p.Asp3261Glu 2 158372 -3008 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195508673 5.48956 0.689405 77.6128 9.21919 0.992353 90.3087 rs796595385 no no 0 0.000000 0 transversion C G C>G 0.008 -0.924 D Asp GAC 0.539 E Glu GAG 0.583 3261 12 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 0.64 IV.32 225 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C9783G:p.D3261E MUC4:NM_018406:exon2:c.C9783G:p.D3261E . . 0.22844827 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.068 . . 232.0 . . . . . . . . . . -1.1882 -1.347 -1.188 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.354 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.175 . . 0.228 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.317 . . 0.347 . . . . . . 2 0.481 . . . . . 0.031 . 0.035 . HET . . . . . . . . . . . . . . I.75 . . 1.III -2.05 . . E7ESK3 . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -0.784 -0.784000 . . . . . 1.0E-225 0.000 0.063 . 0.074 0.440 . 0.134 . 0.196 -0.784 0.562 . . . . . 1 1538 10 1/0 0,202,255 +rs796225068 3 195508670 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508670 195508670 Chr3(GRCh37):g.195508670C>G 9781 9781 NM_018406.6:c.9781G>C p.Asp3261His p.Asp3261His 2 158372 -3010 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs796225068 no no 0 0.000000 0 0.000271 0.000612 0.000377 0.000426 0.000171 0.000000 0.000360 0.000000 0.000000 0.000612 20 4 4 1 1 0 10 0 0 73748 6536 10604 2348 5842 8580 27748 10172 1918 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 4 4 1 1 0 10 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 0.286 D Asp GAC 0.539 H His CAC 0.587 3261 12 1 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 353.86 0.00 Tolerated 0.09 IV.32 226 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G9781C:p.D3261H MUC4:NM_018406:exon2:c.G9781C:p.D3261H . . 0.22844827 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.007 . . 232.0 . . . . . . . . . . -1.7732 -1.885 -1.773 c . . . . . . . . . 0 0.0005 0 0 0 0.0016 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.377 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.151 . . 0.221 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.249 . . 0 0 0 0 0 0 . 0.289 . . 0.305 . . . . . . 2 0.319 . . . . . 0.047 . 0.016 . HET . . . . . . . . . . . . . . II.27 . . 1.III -2.05 . . E7ESK3 . . . . . 0.010 . . . 0.0010 0.0003 0.0004 0.0004 0.0002 0 0.0003 0 0 0.0003 0.0003 0 0 0 0 0.0005 0 . . 0.283 . -1.454 -1.454000 . . . . . 1.0000000000000001E-226 0.000 0.063 . 0.083 0.518 . 0.015 . 0.005 -1.454 0.542 . . . . . 1 1538 10 1/0 0,203,255 +rs200473221 3 195508702 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195508702 195508702 Chr3(GRCh37):g.195508702G>A 9749 9749 NM_018406.6:c.9749C>T p.Pro3250Leu p.Pro3250Leu 2 158372 -3042 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200473221 yes no Frequency 1 0.000000 0 0.001661 0.001009 0.000653 0.000719 0.001115 0.000400 0.001594 0.006229 0.001711 0.006229 215 10 14 4 11 7 76 87 6 129456 9906 21444 5564 9866 17520 47684 13966 3506 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 215 10 14 4 11 7 76 87 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 1.658 P Pro CCT 0.283 L Leu CTT 0.129 3250 12 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0.02 IV.32 184 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C9749T:p.P3250L MUC4:NM_018406:exon2:c.C9749T:p.P3250L . . 0.122340426 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.252 . @ . . . . . 1 0.123 . . 188.0 . . . . . . . . . . -0.5942 -0.821 -0.594 c . . . . . 4.679e-03 . . . 0.0025 0.0116 0.0352 0.0465 0 0.0228 0 0.0031 0 0.0045 0.0439 0 0.0019 0.0069 0 0.0032 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.191 @ . . . 0.2 0.24 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.048 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.290 . . 0.208 . . . . 0.218 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.622 . . 0.728 . . . . . . 2 0.371 . . . . . 0.270 . 0.040 . LowAF . rs200473221 . . . . . . . . . . . . VII.82 . . 1.III 1.III . . E7ESK3 . . . . . 0.045 . . . 0.0009 0.0015 0.0006 0.0005 0.0005 0.0066 0.0015 0.0014 0.0004 0.0011 0.0026 0.0020 0.0102 0.007 0.0042 0.0023 0.0037 . . 0.283 . 0.494 0.494000 . . . . . 9.999999999999999E-185 0.000 0.063 . 0.124 0.001 . 0.088 . 0.196 0.494 -0.617 . . . rs200473221 rs200473221 1 1538 10 1/0 0,201,255 +rs200052949 3 195509353 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509353 195509353 Chr3(GRCh37):g.195509353G>A 9098 9098 NM_018406.6:c.9098C>T p.Ala3033Val p.Ala3033Val 2 158372 -3693 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs200052949 yes no Frequency/1000G 2 0.000000 0 0.129593 0.165700 0.139100 0.040700 0.189900 0.089300 0.001683 0.002391 0.000402 0.000939 0.000000 0.000353 0.002703 0.002444 0.001482 0.002703 255 28 9 7 0 7 154 44 6 151538 11710 22408 7454 11140 19806 56966 18006 4048 0.000106 0.000171 0.000000 0.000000 0.000000 0.000000 0.000211 0.000111 0.000000 8 1 0 0 0 0 6 1 0 239 26 9 7 0 7 142 42 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.024 -1.489 A Ala GCA 0.226 V Val GTA 0.114 3033 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.16 III.91 187 PASS . . . . . 0.17 0.13 0.089 0.041 0.19 0.14 . MUC4:uc021xjp.1:exon2:c.C9098T:p.A3033V MUC4:NM_018406:exon2:c.C9098T:p.A3033V . . 0.12734082 . . @ 34 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.411 . . 267.0 . . . . . . . . . . -1.2935 -1.395 -1.294 c . . . . . 1.124e-03 . . . 0.0038 0.0027 0 0 0 0.0016 0.0056 0.0039 0.0034 0.0031 0 0.0029 0.0033 0.0019 0.0063 0.0039 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.307 . . exonic exonic exonic . . 0.123 0.1296 . . . 0.2 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.042 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.299 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.147 . . 0.040 . . . . . . 2 0.057 . . . . . 0.000 . 0.047 . LowAF . rs200052949 . . . . . . . . . . . . 0.0707 0.0 . I.18 -0.252 . . E7ESK3 . . . . . 0.011 . . . 0.0023 0.0016 0.0004 0.0007 0 0.0023 0.0028 0.0012 0.0004 0.0025 0.0024 0.0015 0.0164 0 0.0035 0.0022 0.0029 . . 0.283 . -0.846 -0.846000 . . . . . 1.0E-187 0.000 0.063 . 0.043 0.139 . 0.010 . 0.002 -0.846 -1.866 . . . rs200052949 rs200052949 1 1538 10 1/0 0,186,255 +rs62282478 3 195509363 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509363 195509363 Chr3(GRCh37):g.195509363G>T 9088 9088 NM_018406.6:c.9088C>A p.Pro3030Thr p.Pro3030Thr 2 158372 -3703 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs62282478 yes no Frequency/1000G 2 0.000000 0 0.103435 0.146700 0.094100 0.036700 0.145100 0.070600 0.000453 0.001048 0.000043 0.000254 0.000542 0.000141 0.000641 0.000487 0.000000 0.001048 71 12 1 2 6 3 38 9 0 156788 11446 23170 7870 11076 21256 59240 18496 4234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 12 1 2 6 3 38 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.008 -0.037 P Pro CCT 0.283 T Thr ACT 0.243 3030 12 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Tolerated 0.07 III.91 218 PASS . . . . . 0.15 0.1 0.071 0.037 0.15 0.094 . MUC4:uc021xjp.1:exon2:c.C9088A:p.P3030T MUC4:NM_018406:exon2:c.C9088A:p.P3030T . . 0.20703125 . . @ 53 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.168 . . 256.0 . . . . . . . . . . -1.2167 -1.318 -1.217 c . . . . . 1.149e-04 . . . 0.0022 0.0003 0 0 0 0.0003 0 0 0.0011 0.0002 0 0 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.079 0.1034 . . . 0.15 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.151 . . 0.294 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.041 . . 0 0 0 0 0 0 . 0.170 . . 0.063 . . . . . . 2 0.038 . . . . . 0.086 . 0.035 . HET . rs199954941 . . . . . . . . . . . . III.65 . . I.18 -1.61 . . E7ESK3 . . . . . 0.014 . . . 0.0005 0.0004 4.439e-05 0.0001 0.0006 0.0005 0.0006 0 0.0001 0.0018 0.0009 0 0.0091 0 0.0004 0.0007 0 . . 0.283 . 0.694 0.694000 . . . . . 1.0E-218 0.000 0.063 . 0.043 0.394 . 0.002 . 0.007 0.694 0.562 . . . rs62282478 rs62282478 1 1538 10 1/0 0,196,255 +rs200717698 3 195509365 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509365 195509365 Chr3(GRCh37):g.195509365C>T 9086 9086 NM_018406.6:c.9086G>A p.Ser3029Asn p.Ser3029Asn 2 158372 -3705 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195509353 1.54995 0.094827 5.61895 0.101753 74.1881 rs200717698 yes no Frequency/1000G 2 0.000000 0 0.103435 0.146700 0.094100 0.036700 0.145100 0.070600 0.000393 0.000986 0.000000 0.000255 0.000548 0.000142 0.000564 0.000326 0.000000 0.000986 61 11 0 2 6 3 33 6 0 155316 11160 23080 7848 10956 21186 58534 18390 4162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 11 0 2 6 3 33 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.024 -0.198 S Ser AGC 0.243 N Asn AAC 0.536 3029 12 1 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.18 III.91 216 PASS . . . . . 0.15 0.1 0.071 0.037 0.15 0.094 . MUC4:uc021xjp.1:exon2:c.G9086A:p.S3029N MUC4:NM_018406:exon2:c.G9086A:p.S3029N . . 0.20229007 . . @ 53 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.117 . . 262.0 . . . . . . . . . . -1.3392 -1.459 -1.339 c . . . . . 7.106e-05 . . . 0.0014 0.0002 0 0 0 0.0001 0 0 0 6.684e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.299 . . exonic exonic exonic . . . 0.1034 . . . 0.15 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.153 . . 0.285 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.152 . . 0 0 0 0 0 0 . 0.135 . . 0.080 . . . . . . 2 0.021 . . . . . 0.060 . 0.009 . HET . rs200717698 . . . . . . . . . . . . 3.1485 . . . . . . E7ESK3 . . . . . 0.006 . . . 0.0005 0.0003 0 0.0001 0.0006 0.0003 0.0006 0 0.0001 0.0017 0.0008 0 0.0102 0 0.0004 0.0006 0 . . 0.283 . -0.192 -0.192000 . . . . . 1.0E-216 0.000 0.063 . 0.016 0.371 . 0.007 . 0.010 -0.192 -0.269 . . . rs201323903 rs201323903 1 1538 10 1/0 0,194,255 +rs201323903 3 195509366 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509366 195509366 Chr3(GRCh37):g.195509366T>C 9085 9085 NM_018406.6:c.9085A>G p.Ser3029Gly p.Ser3029Gly 2 158372 -3706 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195509353 1.54995 0.094827 5.70222 0.159716 74.1881 rs201323903 yes no Frequency/1000G 2 0.000000 0 0.115415 0.161100 0.116600 0.032700 0.170000 0.067700 0.000359 0.000880 0.000000 0.000255 0.000544 0.000142 0.000509 0.000273 0.000000 0.000880 56 10 0 2 6 3 30 5 0 156006 11358 23136 7858 11034 21182 58886 18344 4208 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 10 0 2 6 3 30 5 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.024 0.609 S Ser AGC 0.243 G Gly GGC 0.342 3029 12 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.18 III.91 229 PASS . . . . . 0.16 0.12 0.068 0.033 0.17 0.12 . MUC4:uc021xjp.1:exon2:c.A9085G:p.S3029G MUC4:NM_018406:exon2:c.A9085G:p.S3029G . . 0.23931624 . . @ 56 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.166 . @ . . . . . 1 0.030 . . 234.0 . . . . . . . . . . -1.1068 -1.278 -1.107 c . . . . . 7.041e-05 . . . 0.0014 0.0002 0 0 0 0.0001 0 0 0 6.656e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . 0.1154 . . . 0.14 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.135 . . 0.144 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.378 . . 0.250 . . . . . . 2 0.048 . . . . . 0.081 . 0.034 . HET . rs202033890 . . . . . . . . . . . . III.25 . . . . . . E7ESK3 . . . . . 0.006 . . . 0.0005 0.0003 0 0.0001 0.0006 0.0003 0.0005 0 0.0001 0.0014 0.0008 0 0.01 0 0 0.0007 0 . . 0.283 . 0.577 0.577000 . . . . . 1.0E-229 0.000 0.063 . 0.016 0.369 . 0.020 . 0.009 0.577 0.615 . . . rs201436921 rs201436921 1 1538 10 1/0 0,202,255 +rs201162512 3 195509379 A C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195509379 195509379 Chr3(GRCh37):g.195509379A>C 9072 9072 NM_018406.6:c.9072T>G p.Pro3024= p.Pro3024Pro 2 158372 -3719 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201162512 yes no Frequency/1000G 2 0.000000 0 0.134784 0.166400 0.140100 0.043700 0.204800 0.098000 0.000102 0.000351 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000351 2 2 0 0 0 0 0 0 0 19560 5690 708 110 1516 0 7888 2962 686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion T G T>G 0.039 -0.440 P Pro CCT 0.283 P Pro CCG 0.115 3024 187 PASS . . . . . 0.17 0.13 0.098 0.044 0.2 0.14 . MUC4:uc021xjp.1:exon2:c.T9072G:p.P3024P MUC4:NM_018406:exon2:c.T9072G:p.P3024P . . 0.12852664 . . @ 41 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 319.0 . . . . . . . . . . -0.3583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1348 . . . 0.09 0.17 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs201162512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs201189686 rs201189686 1 1538 10 1/0 0,179,255 +rs200340883 3 195509394 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195509394 195509394 Chr3(GRCh37):g.195509394T>G 9057 9057 NM_018406.6:c.9057A>C p.Thr3019= p.Thr3019Thr 2 158372 -3734 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs1009478833 no no 0 0.000000 0 0.179513 0.234500 0.182000 0.060500 0.257500 0.131100 0.000804 0.001868 0.000046 0.000759 0.000182 0.000165 0.001215 0.000786 0.001326 0.001868 113 22 1 5 2 3 62 13 5 140564 11778 21732 6584 10966 18162 51030 16542 3770 0.000071 0.000170 0.000000 0.000304 0.000000 0.000000 0.000118 0.000000 0.000000 5 1 0 1 0 0 3 0 0 103 20 1 3 2 3 56 13 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.976 1.255 T Thr ACA 0.280 T Thr ACC 0.361 3019 213 PASS . . . . . 0.23 0.18 0.13 0.06 0.26 0.18 . MUC4:uc021xjp.1:exon2:c.A9057C:p.T3019T MUC4:NM_018406:exon2:c.A9057C:p.T3019T . . 0.19407895 . . @ 59 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 304.0 . . . . . . . . . . -0.3886 . . . . . . . . 1.377e-05 . . . 0 0 0 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1795 . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200340883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0006 0 0.0006 0 0.0007 0.0011 0.0006 0.0002 0.0022 0.0020 0.0014 0.0102 0.0013 0.0014 0.0020 0.0045 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs377471271 rs377471271 1 1538 10 1/0 0,186,255 +rs28605870 3 195509563 A T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509563 195509563 Chr3(GRCh37):g.195509563A>T 8888 8888 NM_018406.6:c.8888T>A p.Val2963Asp p.Val2963Asp 2 158372 -3903 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs28605870 yes no Frequency 1 0.000000 0 0.001817 0.004087 0.001506 0.000383 0.002353 0.000932 0.002353 0.000495 0.001164 0.004087 284 49 35 3 26 20 137 9 5 156282 11990 23242 7834 11052 21464 58230 18174 4296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 284 49 35 3 26 20 137 9 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.024 0.205 V Val GTC 0.240 D Asp GAC 0.539 2963 12 1 -3 -3 -6 0 I.38 5.IX 13 84 54 152 C0 353.86 0.00 Deleterious 0.05 IV.32 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T8888A:p.V2963D MUC4:NM_018406:exon2:c.T8888A:p.V2963D . . 0.10728745 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.088 . . 494.0 . . . . . . . . . . -0.8266 -1.123 -0.827 c . . . . . 2.710e-04 . . . 0.0026 0.0007 0 0.0020 0 0.0006 0 0.0005 0.0028 0.0005 0 0.0030 0 0 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . @ . . . 0.18 0.12 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.155 0.006 . . 37 . 0.286 . . 0.120 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.129 . . 0 0 0 0 0 0 . 0.657 . . 0.683 . . . . . . 2 0.654 . . . . . 0.023 . 0.141 . LowAF . rs28605870 . . . . . . . . . . . . I.74 0.012635 . . . . . E7ESK3 . . . . . 0.012 . . . 0.0042 0.0017 0.0015 0.0004 0.0022 0.0002 0.0023 0.0011 0.0009 0.0040 0.0030 0.0030 0 0.0036 0.0021 0.0026 0.0014 . . 0.372 . -0.942 -0.942000 . . . . . 1.0E-177 0.000 0.063 . 0.111 0.162 . 0.108 . 0.255 -0.942 0.649 . rs60024035 . rs28605870 rs28605870 1 1538 10 1/0 0,158,255 +rs199497030 3 195509651 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509651 195509651 Chr3(GRCh37):g.195509651G>A 8800 8800 NM_018406.6:c.8800C>T p.Leu2934Phe p.Leu2934Phe 2 158372 -3991 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Weakly Activated 195509652 7.63351 0.325243 80.5719 8.15499 0.622424 80.5719 rs199497030 yes no Frequency 1 0.000000 0 0.000607 0.005580 0.000089 0.000000 0.000000 0.000000 0.000582 0.000093 0.000000 0.005580 87 51 2 0 0 0 33 1 0 143428 9140 22570 7992 10136 22072 56678 10808 4032 0.000056 0.000875 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 4 0 0 0 0 0 0 0 79 43 2 0 0 0 33 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.165 0.044 L Leu CTT 0.129 F Phe TTT 0.454 2934 12 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.09 IV.32 207 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C8800T:p.L2934F MUC4:NM_018406:exon2:c.C8800T:p.L2934F . . 0.20166667 . . @ 121 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.184 . . 600.0 . . . . . . . . . . -0.9056 -1.167 -0.906 c . . . . . 9.888e-04 . . . 0.0090 0.0016 0.0038 0 0 0.0023 0 0 0.0110 0.0014 0.0047 0 0 0.0030 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.352 . . exonic exonic exonic . . . @ . . . 0.15 0.14 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . T 0.092 0.004 . . 37 . 0.271 . . 0.123 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.125 . . 0 0 0 0 0 0 . 0.571 . . 0.539 . . . . . . 2 0.277 . . . . . 0.082 . 0.016 . HET . rs199497030 . . . . . . . . . . . . III.59 0.019939 . . . . . E7ESK3 . . . . . 0.006 . . . 0.0021 0.0003 9.02e-05 0 0 0.0001 0.0004 0 0 0.0100 0.0041 0 0 0 0 0.0020 0 . . 0.283 . -0.000 -0.000000 . . . . . 1.0E-207 0.000 0.063 . 0.016 0.038 . 0.002 . 0.001 -0.000 0.562 . . . . . 1 1538 10 1/0 0,158,234 +rs201054395 3 195509717 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509717 195509717 Chr3(GRCh37):g.195509717G>T 8734 8734 NM_018406.6:c.8734C>A p.Pro2912Thr p.Pro2912Thr 2 158372 -4057 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs201054395 yes no Frequency 1 0.000000 0 0.000032 0.000137 0.000000 0.000000 0.000000 0.000000 0.000050 0.000000 0.000000 0.000137 5 2 0 0 0 0 3 0 0 156408 14624 24142 7694 11354 22176 59758 12248 4412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.055 0.044 P Pro CCT 0.283 T Thr ACT 0.243 2912 12 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Tolerated 0.51 IV.32 199 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C8734A:p.P2912T MUC4:NM_018406:exon2:c.C8734A:p.P2912T . . 0.15539569 . . @ 108 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.180 . . 695.0 . . . . . . . . . . -1.2780 -1.395 -1.278 c . . . . . . . . . 0 0.0003 0 0 0 0.0009 0 0 0 0.0003 0 0 0 0.0013 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . . 0.0008 . . . 0.15 0.15 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.114 0.005 . . 37 . 0.160 . . 0.292 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.061 . . 0 0 0 0 0 0 . 0.151 . . 0.040 . . . . . . 2 0.564 . . . . . 0.119 . 0.041 . HET . rs201054395 . . . . . . . . . . . . IV.97 0.007553 . . . . . E7ESK3 . . . . . 0.019 . . . 0 1.492e-05 0 0 0 0 3.912e-05 0 0 0.0003 0.0001 0 0 0 0 0.0001 0 . . 0.283 . -0.000 -0.000000 . . . . . 1.0E-199 0.000 0.063 . 0.104 0.002 . 0.016 . 0.014 -0.000 0.562 . . . rs201054395 rs201054395 1 1538 10 1/0 0,147,246 +rs28750097 3 195509756 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195509756 195509756 Chr3(GRCh37):g.195509756G>C 8695 8695 NM_018406.6:c.8695C>G p.Leu2899Val p.Leu2899Val 2 158372 -4096 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs28750097 yes no Frequency 1 0.000000 0 0.002247 0.004351 0.005792 0.000000 0.000980 0.000000 0.001469 0.001418 0.002041 0.005792 30 13 3 0 1 0 9 3 1 13352 2988 518 92 1020 0 6128 2116 490 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 12 3 0 1 0 9 2 1 0 0 0 0 0 0 0 0 0 RF 90 Genomes transversion C G C>G 0.543 -0.037 L Leu CTC 0.197 V Val GTC 0.240 2899 12 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.14 IV.32 171 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C8695G:p.L2899V MUC4:NM_018406:exon2:c.C8695G:p.L2899V . . 0.10286678 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.029 . @ . . . . . 1 0.126 . . 593.0 . . . . . . . . . . -1.4268 -1.528 -1.427 c . . . . . . . . . 0 0.0001 0 0 0 0 0 0.0003 0 0.0001 0 0 0 0 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . . @ . . . 0.15 0.14 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.065 0.003 . . 37 . 0.125 . . 0.309 . . . . 0.288 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.191 . . 0.063 . . . . . . 2 0.010 . . . . . 0.070 . 0.034 . LowAF . rs201923143 . . . . . . . . . . . . III.25 0.004412 . . . . . E7ESK3 . . . . . 0.008 . . . . . . . . . . . . 0.0044 0.0022 0.0058 0 0.0010 0.0014 0.0015 0.0020 . . 0.283 . -0.000 -0.000000 . . . . . 1.0E-171 0.000 0.063 . 0.090 0.010 . 0.025 . 0.018 -0.000 -2.462 . . . rs28750097 rs28750097 1 1538 10 1/0 0,150,255 +rs201197102 3 195509880 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195509880 195509880 Chr3(GRCh37):g.195509880C>T 8571 8571 NM_018406.6:c.8571G>A p.Val2857= p.Val2857Val 2 158372 -4220 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs1036203735 no no 0 0.000000 0 0.008482 0.009477 0.014388 0.000000 0.004870 0.000000 0.003697 0.021259 0.009740 0.021259 73 25 4 0 3 0 13 25 3 8606 2638 278 74 616 0 3516 1176 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 73 25 4 0 3 0 13 25 3 0 0 0 0 0 0 0 0 0 RF 130 Genomes transition G A G>A 0.008 0.044 V Val GTG 0.468 V Val GTA 0.114 2857 143 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G8571A:p.V2857V MUC4:NM_018406:exon2:c.G8571A:p.V2857V . . 0.1031175 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 417.0 . . . . . . . . . . -0.5728 . . . . . . . . 2.130e-04 . . . 0 0.0006 0 0 0 0.0013 0.0062 0 0 0.0002 0 0 0.0006 0.0002 0.0064 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.15 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs201197102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0095 0.0085 0.0144 0 0.0049 0.0213 0.0037 0.0097 . . . . . . . . . . . 1.0E-143 . . . . . . . . . . . . . . rs201889850 rs201889850 1 1538 10 1/0 0,166,255 +. 3 195510348 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510348 195510348 Chr3(GRCh37):g.195510348G>C 8103 8103 NM_018406.6:c.8103C>G p.Asp2701Glu p.Asp2701Glu 2 158372 -4688 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195510353 5.48956 0.689405 77.6128 9.21919 0.992353 90.3087 transversion C G C>G 0.000 0.367 D Asp GAC 0.539 E Glu GAG 0.583 2701 12 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 0.19 IV.32 175 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C8103G:p.D2701E MUC4:NM_018406:exon2:c.C8103G:p.D2701E . . 0.103626944 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.094 . @ . . . . . 1 0.007 . . 193.0 . . . . . . . . . . -0.7749 -0.946 -0.775 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.344 . . exonic exonic exonic . . 0.190 @ . . . 0.23 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.208 . . 0.238 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.058 . . . . . 0.072 . 0.029 . LowAF . . . . . . . . . . . . . . III.65 . . 1.II 1.II . . . . . . . . 0.050 . . . . . . . . . . . . . . . . . . . . . . 0.059 . 0.489 0.489000 . . . . . 1.0E-175 0.000 0.063 . 0.095 0.008 . 0.006 . 0.166 0.489 0.562 . . . rs2911269 rs2911269 1 1538 10 1/0 0,198,255 +rs756052204 3 195510470 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510470 195510470 Chr3(GRCh37):g.195510470T>C 7981 7981 NM_018406.6:c.7981A>G p.Ser2661Gly p.Ser2661Gly 2 158372 -4810 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510457 2.76856 0.189446 VI.64 0.280252 76.4142 rs756052204 yes no Frequency 1 0.000000 0 0.000030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 0.000077 1 0 0 0 0 0 1 0 0 32808 1392 5010 1808 2870 4810 13070 2900 948 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes transition A G A>G 0.000 0.286 S Ser AGC 0.243 G Gly GGC 0.342 2661 12 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.29 IV.32 177 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A7981G:p.S2661G MUC4:NM_018406:exon2:c.A7981G:p.S2661G . . 0.10691824 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.015 . . 159.0 . . . . . . . . . . -1.5953 -1.773 -1.595 c . . . . . 3.317e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.330 . . exonic exonic exonic . . 0.077 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.123 . . 0.244 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.168 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.083 . . . . . 0.128 . 0.030 . LowAF . rs756052204 . . . . . . . . . . . . IV.36 . . 1.II -1.7 . . . . . . . . 0.004 . . . 0 3.048e-05 0 0 0 0 7.651e-05 0 0 . . . . . . . . . . 0.283 . -1.747 -1.747000 . . . . . 1.0E-177 0.000 0.063 . 0.074 0.016 . 0.009 . 0.004 -1.747 -1.866 . . . . . 1 1538 10 1/0 0,207,255 +. 3 195510476 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510476 195510476 Chr3(GRCh37):g.195510476C>G 7975 7975 NM_018406.6:c.7975G>C p.Val2659Leu p.Val2659Leu 2 158372 -4816 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510468 7.63351 0.325243 80.5719 8.76448 0.670309 81.577 0.001188 0.005165 0.000889 0.000699 0.000962 0.001575 0.001193 0.000179 0.001370 0.005165 63 10 9 2 4 12 23 1 2 53018 1936 10120 2862 4158 7618 19276 5588 1460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 10 9 2 4 12 23 1 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 0.044 V Val GTC 0.240 L Leu CTC 0.197 2659 12 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.24 IV.32 255 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G7975C:p.V2659L MUC4:NM_018406:exon2:c.G7975C:p.V2659L . . 0.33004925 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.269 . @ . . . . . 1 0.007 . . 203.0 . . . . . . . . . . -1.0907 -1.302 -1.091 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.340 . . exonic exonic exonic . . 0.069 @ . . . 0.2 0.22 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.189 . . 0.288 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.443 . . . . . 0.214 . 0.028 . HET . . . . . . . . . . . . . . VI.19 . . 1.II -2.03 . . . . . . . . 0.003 . . . 0.0052 0.0012 0.0009 0.0007 0.0010 0.0002 0.0012 0.0014 0.0016 0 0 0 0 0 0 0 0 . . 0.283 . -0.796 -0.796000 . . . . . 1.0E-255 0.000 0.063 . 0.135 0.011 . 0.005 . 0.163 -0.796 -0.609 . . . rs62282477 rs62282477 1 1538 10 1/0 0,217,255 +rs776617846 3 195510601 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510601 195510601 Chr3(GRCh37):g.195510601A>G 7850 7850 NM_018406.6:c.7850T>C p.Val2617Ala p.Val2617Ala 2 158372 -4941 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs776617846 yes no Frequency 1 0.000000 0 0.009740 0.036232 0.016304 0.000000 0.080000 0.006211 0.004415 0.000000 0.000000 0.080000 18 5 3 0 4 2 4 0 0 1848 138 184 108 50 322 906 96 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 5 3 0 4 2 4 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 0.044 V Val GTA 0.114 A Ala GCA 0.226 2617 12 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.41 IV.32 192 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T7850C:p.V2617A MUC4:NM_018406:exon2:c.T7850C:p.V2617A . . 0.14035088 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.084 . @ . . . . . 1 0.021 . . 114.0 . . . . . . . . . . -0.9909 -1.207 -0.991 c . . . . . 3.009e-03 . . . 0 0 . 0 . 0 0 0 0 0 . . 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.330 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.053 0.003 . . 37 . 0.156 . . 0.268 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.096 . . . . . 0.033 . 0.032 . LowAF . rs776617846 . . . . . . . . . . . . 2.027 0.240506 . . . . . . . . . . . 0.004 . . . 0.0362 0.0098 0.0165 0 0.08 0 0.0044 0 0.0062 . 0 0 . . . . . . . 0.283 . -0.437 -0.437000 . . . . . 9.999999999999999E-193 0.000 0.063 . 0.138 0.010 . 0.063 . 0.173 -0.437 -0.542 . . . . . 1 1538 10 1/0 0,224,255 +. 3 195510611 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510611 195510611 Chr3(GRCh37):g.195510611G>T 7840 7840 NM_018406.6:c.7840C>A p.Leu2614Ile p.Leu2614Ile 2 158372 -4951 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 0.008197 0.012987 0.021277 0.008772 0.046875 0.016000 0.003210 0.000000 0.000000 0.046875 18 2 4 1 3 4 4 0 0 2196 154 188 114 64 250 1246 128 52 0.111111 0.000000 0.250000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 3186 Exomes transversion C A C>A 0.520 -0.682 L Leu CTT 0.129 I Ile ATT 0.356 2614 12 1 2 2 2 0 0 4.IX 5.II 111 111 5 C0 353.86 0.00 Tolerated 0.25 IV.32 241 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C7840A:p.L2614I MUC4:NM_018406:exon2:c.C7840A:p.L2614I . . 0.2767857 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.119 . @ . . . . . 1 0.025 . . 112.0 . . . . . . . . . . -0.9748 -1.183 -0.975 c . . . . . . . . . 0.0179 0.0028 . 0 0 0 0 0 0.025 0.0036 . . 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.187 . . 0.237 . . . . 0.293 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.260 . . . . . 0.031 . 0.029 . HET . . . . . . . . . . . . . . I.82 . . . . . . . . . . . . 0.012 . . . 0.0130 0.0082 0.0213 0.0088 0.0469 0 0.0032 0 0.016 . . . . . . . . . . 0.283 . -0.437 -0.437000 . . . . . 1.0E-241 0.000 0.063 . 0.043 0.001 . 0.016 . 0.003 -0.437 -2.254 . . . . . 1 1538 10 1/0 0,235,255 +rs758091975 3 195510613 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510613 195510613 Chr3(GRCh37):g.195510613C>T 7838 7838 NM_018406.6:c.7838G>A p.Ser2613Asn p.Ser2613Asn 2 158372 -4953 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510601 2.76856 0.189446 6.66825 0.196338 76.4142 rs758091975 yes no Frequency 1 0.000000 0 0.007370 0.000000 0.030864 0.021739 0.080645 0.000000 0.001082 0.000000 0.000000 0.080645 13 0 5 2 5 0 1 0 0 1764 168 162 92 62 200 924 114 42 0.153846 0.000000 0.400000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 9 0 1 2 5 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 4440 Exomes transition G A G>A 0.787 0.125 S Ser AGC 0.243 N Asn AAC 0.536 2613 12 2 Mouse 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Deleterious 0 IV.32 245 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G7838A:p.S2613N MUC4:NM_018406:exon2:c.G7838A:p.S2613N . . 0.29090908 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.302 . @ . . . . . 1 0.017 . . 110.0 . . . . . . . . . . -0.7828 -0.956 -0.783 c . . . . . 2.145e-04 . . . 0 0 0 0 . 0 . 0 0 0 0 . 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.178 0.007 . . 37 . 0.175 . . 0.255 . . . . 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.168 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.032 . . . . . 0.072 . 0.012 . HET . rs758091975 . . . . . . . . . . . . III.27 0.033333 . . . . . . . . . . . 0.043 . . . 0 0.0074 0.0309 0.0217 0.0806 0 0.0011 0 0 . . . . . . . . . . 0.283 . 0.482 0.482000 . . . . . 1.0E-245 0.000 0.063 . 0.043 0.003 . 0.003 . 0.004 0.482 -1.906 . . . . . 1 1538 10 1/0 0,236,255 +. 3 195510614 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510614 195510614 Chr3(GRCh37):g.195510614T>C 7837 7837 NM_018406.6:c.7837A>G p.Ser2613Gly p.Ser2613Gly 2 158372 -4954 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510601 2.76856 0.189446 VI.64 0.280252 76.4142 transition A G A>G 0.945 1.900 S Ser AGC 0.243 G Gly GGC 0.342 2613 12 2 Mouse 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Deleterious 0 IV.32 201 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A7837G:p.S2613G MUC4:NM_018406:exon2:c.A7837G:p.S2613G . . 0.1627907 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.032 . . 129.0 . . . . . . . . . . -0.7810 -0.953 -0.781 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.054 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.162 0.006 . . 37 . 0.187 . . 0.288 . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.221 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.056 . . . . . 0.181 . 0.047 . HET . . . . . . . . . . . . . . 5.904 . . . . . . . . . . . . 0.142 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.402 0.402000 . . . . . 1.0E-201 0.000 0.063 . 0.062 0.004 . 0.101 . 0.004 0.402 -1.866 . . . . . 1 1538 10 1/0 0,220,255 +rs368501323 3 195510636 C A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510636 195510636 Chr3(GRCh37):g.195510636C>A 7815 7815 NM_018406.6:c.7815G>T p.Gln2605His p.Gln2605His 2 158372 -4976 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs368501323 no no 0 0.000000 0 0.000473 0.002469 0.000731 0.000000 0.001304 0.000000 0.000000 0.001185 0.000000 0.002469 7 2 2 0 2 0 0 1 0 14786 810 2736 598 1534 2418 5442 844 404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 2 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.102 0.528 Q Gln CAG 0.744 H His CAT 0.413 2605 12 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Tolerated 0.06 IV.32 135 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G7815T:p.Q2605H MUC4:NM_018406:exon2:c.G7815T:p.Q2605H . . 0.33802816 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.138 . @ . . . . . 1 0.018 . . 142.0 . . . . . . . . . . -0.7566 -0.991 -0.757 c . . . . . . . . . 0.0227 0.0058 0 0 . 0.0128 0 0.0017 0.0323 0.0051 0 . 0.0833 0 0 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.386 . . exonic exonic exonic . . . @ . . . 0.27 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.323 . . 0.148 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.129 . . 0 0 0 0 0 0 . 0.500 . . 0.492 . . . . . . 2 0.157 . . . . . 0.268 . 0.077 . HET . . . . . . . . . . . . . . VII.18 . . . . . . E7ESK3 . . . . . 0.002 . . . 0.0031 0.0003 0.0007 0 0.0007 0 0 0 0 0 0.0042 0 0 0.125 0.0106 0 0 . . 0.283 . 0.482 0.482000 . . . . . 1.0E-135 0.000 0.063 . 0.062 0.004 . 0.148 . 0.003 0.482 -2.298 . . . . . 1 1538 10 1/0 0,242,254 +rs76839144 3 195510701 A C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510701 195510701 Chr3(GRCh37):g.195510701A>C 7750 7750 NM_018406.6:c.7750T>G p.Ser2584Ala p.Ser2584Ala 2 158372 -5041 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs76839144 no no 0 0.000000 0 0.004932 0.000661 0.001181 0.006193 0.000543 0.006686 0.006943 0.006400 0.004484 0.006943 731 8 25 46 6 126 394 108 18 148224 12108 21166 7428 11040 18846 56746 16876 4014 0.002307 0.000000 0.000000 0.004039 0.000181 0.003714 0.002890 0.004148 0.001495 171 0 0 15 1 35 82 35 3 389 8 25 16 4 56 230 38 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.016 0.690 S Ser TCA 0.148 A Ala GCA 0.226 2584 12 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Deleterious 0.04 IV.32 174 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T7750G:p.S2584A MUC4:NM_018406:exon2:c.T7750G:p.S2584A . . 0.100890204 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.024 . . 337.0 . . . . . . . . . . -0.9540 -1.100 -0.954 c . . . . . . . . . 0.0058 0.0040 0 0.0021 0 0.0061 0.0063 0.0018 0.0057 0.0034 0 0 0.0053 0.0053 0 0.0018 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.200 @ . . . 0.24 0.25 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . T 0.010 0.001 . . 37 . 0.162 . . 0.146 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.378 . . 0.330 . . . . . . 2 0.469 . . . . . 0.203 . 0.054 . LowAF . rs76839144 . . . . . . . . . . . . 6.326 0.083086 . I.19 I.19 . . E7ESK3 . . . . . 0.011 . . . 0.0010 0.0056 0.0012 0.0063 0.0006 0.0075 0.0080 0.0053 0.0067 0.0002 0.0003 0 0 0 0 0.0006 0 . . 0.372 . 0.553 0.553000 . . . . . 1.0E-174 0.000 0.063 . 0.083 0.039 . 0.004 . 0.270 0.553 0.649 . . . rs76839144 rs76839144 1 1538 10 1/0 0,174,255 +rs62282480 3 195510749 C A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510749 195510749 Chr3(GRCh37):g.195510749C>A 7702 7702 NM_018406.6:c.7702G>T p.Ala2568Ser p.Ala2568Ser 2 158372 -5089 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195510736 0.966108 0.262924 I.58 0.719051 rs62282480 yes no Frequency/1000G 2 0.000000 0 0.319489 0.387300 0.324100 0.188500 0.359800 0.315600 transversion G T G>T 0.016 -0.924 A Ala GCA 0.226 S Ser TCA 0.148 2568 12 1 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Tolerated 0.22 IV.32 255 PASS . . . . . 0.39 0.32 0.32 0.19 0.36 0.32 . MUC4:uc021xjp.1:exon2:c.G7702T:p.A2568S MUC4:NM_018406:exon2:c.G7702T:p.A2568S . . 0.62371135 . . @ 242 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.165 . @ . . . . . 1 0.255 . . 388.0 . . . . . . . . . . -1.4743 -1.543 -1.474 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.398 . . exonic exonic exonic . . 0.119 0.3195 . . . 0.36 0.31 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.142 . . 0.272 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.231 . . 0.173 . . . . . . 2 0.117 . . . . . 0.056 . 0.080 . HET . rs62282480 0.011 0.007 . . . . . . . . . . 3.0061 0.505988 . 1.V -0.356 . . E7ESK3 . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -0.428 -0.428000 . . . . . 1.0E-255 0.000 0.063 . 0.043 0.002 . 0.001 . 0.006 -0.428 -2.465 0.011 . rs62282480 rs62282480 rs62282480 1 1538 10 1/0 0,203,204 +rs747010184 3 195510896 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510896 195510896 Chr3(GRCh37):g.195510896G>A 7555 7555 NM_018406.6:c.7555C>T p.Pro2519Ser p.Pro2519Ser 2 158372 -5236 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs747010184 yes no Frequency 1 0.000000 0 0.000193 0.000503 0.000176 0.000000 0.000926 0.000054 0.000192 0.000059 0.000300 0.000926 25 5 3 0 4 1 10 1 1 129712 9950 17092 7370 4320 18450 52116 17078 3336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 5 3 0 4 1 10 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.299 0.125 P Pro CCC 0.328 S Ser TCC 0.220 2519 12 2 C. elegans -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.53 III.79 185 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C7555T:p.P2519S MUC4:NM_018406:exon2:c.C7555T:p.P2519S . . 0.13457076 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.277 . . 431.0 . . . . . . . . . . -1.4278 -1.501 -1.428 c . . . . . 1.703e-05 . . . 0 4.765e-05 0 0 0 0.0001 0 0 0 5.455e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.091 0.004 . . 37 . 0.106 . . 0.349 . . . . 0.209 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.138 . . 0 0 0 0 0 0 . 0.151 . . 0.013 . . . . . . 2 0.038 . . . . . 0.127 . 0.051 . LowAF . rs747010184 . . . . . . . . . . . . IV.61 . . . . . . E7ESK3 . . . . . 0.015 . . . 0.0002 6.895e-05 0.0001 0 0.0005 0 4.383e-05 0 5.42e-05 0.0009 0.0012 0.0027 0 0.0035 0.0008 0.0012 0.0025 . . 0.372 . 0.406 0.406000 . . . . . 1.0E-185 0.000 0.063 . 0.111 0.016 . 0.003 . 0.005 0.406 -2.009 . . . . . 1 1538 10 1/0 0,166,255 +rs576459717 3 195510910 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195510910 195510910 Chr3(GRCh37):g.195510910G>T 7541 7541 NM_018406.6:c.7541C>A p.Pro2514His p.Pro2514His 2 158372 -5250 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 0.000032 0.000000 0.000042 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 5 0 1 0 0 0 4 0 0 155650 12784 23562 7860 10240 21676 59752 15474 4302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.913 1.093 P Pro CCT 0.283 H His CAT 0.413 2514 12 3 C. elegans -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 353.86 0.00 Tolerated 0.36 III.79 178 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C7541A:p.P2514H MUC4:NM_018406:exon2:c.C7541A:p.P2514H . . 0.10778443 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.199 . . 501.0 . . . . . . . . . . -0.7593 -1.016 -0.759 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.356 . . exonic exonic exonic . . . 0.0002 . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.234 0.009 . . 37 . 0.297 . . 0.197 . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . 0.548 . . 0.525 . . . . . . 2 0.453 . . . . . 0.231 . 0.056 . LowAF . . . . . . . . . . . . . . VI.46 . . . . . . E7ESK3 . . . . . 0.089 . . . 0 2.922e-05 0 0 0 0 7.899e-05 0 0 0 5.338e-05 0.0020 0 0 0 0 0 . . 0.372 . -0.000 -0.000000 . . . . . 1.0E-178 0.002 0.151 . 0.126 0.005 . 0.280 . 0.166 -0.000 0.562 . . . . . 1 1538 10 1/0 0,157,255 +rs75075507 3 195511070 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511070 195511070 Chr3(GRCh37):g.195511070C>G 7381 7381 NM_018406.6:c.7381G>C p.Asp2461His p.Asp2461His 2 158372 -5410 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs75075507 yes no Frequency 1 0.000000 0 0.001319 0.001362 0.000897 0.000444 0.000377 0.001063 0.002165 0.000383 0.001693 0.002165 177 14 18 3 4 19 107 6 6 134220 10282 20076 6750 10616 17868 49420 15664 3544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 177 14 18 3 4 19 107 6 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.063 0.932 D Asp GAC 0.539 H His CAC 0.587 2461 12 1 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 353.86 0.00 Not scored 0.0 0.0 194 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G7381C:p.D2461H MUC4:NM_018406:exon2:c.G7381C:p.D2461H . . 0.14285715 . . @ 113 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.079 . @ . . . . . 1 0.109 . . 791.0 . . . . . . . . . . -1.2242 -1.371 -1.224 c . . . . . . . . . 0.0010 0.0004 0 0 0 0.0008 0 0 0.0007 0.0004 0 0 0.0007 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . . @ . . . 0.23 0.21 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.052 0.003 . . 37 . 0.167 . . 0.172 . . . . 0.182 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.310 . . 0.121 . . . . . . 2 0.555 . . . . . 0.108 . 0.055 . LowAF . rs75075507 . . . . . . . . . . . . IV.98 0.005952 . . . . . E7ESK3 . . . . . 0.013 . . . 0.0021 0.0014 0.0009 0.0003 0.0004 0.0002 0.0023 0.0020 0.0011 0.0006 0.0010 0 0.0076 0 0.0013 0.0013 0 . . 0.819 . -0.437 -0.437000 . . . . . 1.0E-194 0.000 0.063 . 0.104 0.011 . 0.018 . 0.003 -0.437 -2.598 . . . rs75075507 rs75075507 1 1538 10 1/0 0,140,230 +rs768794411 3 195511094 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511094 195511094 Chr3(GRCh37):g.195511094T>C 7357 7357 NM_018406.6:c.7357A>G p.Ser2453Gly p.Ser2453Gly 2 158372 -5434 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195511081 0.012609 3.25374 0.02696 71.6229 rs768794411 yes no Frequency 1 0.000000 0 0.000215 0.000311 0.000000 0.000000 0.000000 0.001317 0.000031 0.000052 0.000000 0.001317 36 4 0 0 0 29 2 1 0 167726 12874 23532 8276 12160 22022 65274 19048 4540 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 4 0 0 0 29 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.315 0.932 S Ser AGC 0.243 G Gly GGC 0.342 2453 12 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Not scored 0.0 0.0 158 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A7357G:p.S2453G MUC4:NM_018406:exon2:c.A7357G:p.S2453G . . 0.1015625 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.053 . . 768.0 . . . . . . . . . . -1.0352 -1.152 -1.035 c . . . . . 9.171e-05 . . . 0.0009 0.0003 0 0 0 0 0 0.0005 0.0012 0.0003 0 0 0 0 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . 0.191 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.107 . . 0.163 . . . . 0.250 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.056 . . 0 0 0 0 0 0 . 0.380 . . 0.256 . . . . . . 2 0.457 . . . . . 0.091 . 0.034 . LowAF . rs768794411 . . . . . . . . . . . . 4.0209 . . 1.IV 1.IV . . E7ESK3 . . . . . 0.055 . . . 0.0003 0.0002 0 0 0 0 1.776e-05 0 0.0013 0.0003 0.0002 0 0 0 0.0003 0.0001 0 . . 0.819 . 0.513 0.513000 . . . . . 1.0E-158 0.000 0.063 . 0.016 0.003 . 0.020 . 0.001 0.513 -1.866 . . . . . 1 1538 10 1/0 0,139,250 +rs199533374 3 195511273 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511273 195511273 Chr3(GRCh37):g.195511273G>A 7178 7178 NM_018406.6:c.7178C>T p.Ala2393Val p.Ala2393Val 2 158372 -5613 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195511264 2.46341 0.527454 3.63521 0.726853 rs199533374 yes no Frequency 1 0.000000 0 0.002522 0.005321 0.000659 0.001318 0.003998 0.001497 0.003087 0.000903 0.001446 0.005321 182 41 6 3 16 12 93 8 3 72170 7706 9106 2276 4002 8016 30126 8864 2074 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182 41 6 3 16 12 93 8 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.489 A Ala GCA 0.226 V Val GTA 0.114 2393 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C7178T:p.A2393V MUC4:NM_018406:exon2:c.C7178T:p.A2393V . . 0.12293729 . . @ 149 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.334 . . 1212.0 . . . . . . . . . . -1.8702 -1.974 -1.870 c . . . . . . . . . 0.0234 0.0069 0.0092 0 0.0079 0.0079 0.0128 0.0017 0.0265 0.0060 0.0111 0 0.0116 0.0052 0 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . . @ . . . 0.19 0.18 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.150 . . 0.255 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.064 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 2 0.227 . . . . . 0.155 . 0.052 . LowAF . rs199533374 . . . . . . . . . . . . V.01 0.118841 . . . . . E7ESK3 . . . . . 0.005 . . . 0.0077 0.0031 0.0006 0.0014 0.0065 0.0012 0.0047 0.0023 0.0015 0.0042 0.0012 0.0014 0 0 0.0003 0.0004 0 . . 0.392 . -1.752 -1.752000 . . . . . 1.0E-179 0.100 0.226 . 0.124 0.204 . 0.186 . 0.005 -1.752 -2.423 . . . rs199533374 rs199533374 1 1538 10 1/0 0,120,225 +rs368930530 3 195511500 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511500 195511500 Chr3(GRCh37):g.195511500G>C 6951 6951 NM_018406.6:c.6951C>G p.His2317Gln p.His2317Gln 2 158372 -5840 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Donor Strongly Activated 195511505 3.34011 0.32653 72.4027 7.19963 0.921257 85.0987 rs368930530 no no 0 0.000000 0 0.000274 0.000831 0.000185 0.000000 0.000000 0.000156 0.000186 0.000910 0.000268 0.000910 38 5 4 0 0 3 10 15 1 138536 6016 21576 6886 10704 19262 53882 16480 3730 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 5 4 0 0 3 10 15 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.024 0.125 H His CAC 0.587 Q Gln CAG 0.744 2317 12 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.31 III.79 183 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C6951G:p.H2317Q MUC4:NM_018406:exon2:c.C6951G:p.H2317Q . . 0.11851852 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.044 . @ . . . . . 1 0.073 . . 270.0 . . . . . . . . . . -0.9812 -1.183 -0.981 c . . . . . . . . . 0.0043 0.0038 0.0172 0.0022 0 0.0065 0 0.0013 0.0078 0.0016 0.0154 0.0035 0 0.0010 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.270 . . exonic exonic exonic . . . @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . 0.098 . . . . . . . . . 37 . 0.157 . . 0.240 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.399 . . 0.473 . . . . . . 2 0.264 . . . . . 0.107 . 0.135 . LowAF . rs368930530 . . . . . . . . . . . . IV.52 . . . . . . E7ESK3 . . . . . 0.025 . . . 0.0011 0.0001 4.764e-05 0 0 0 9.137e-05 0.0003 0.0002 0.0004 0.0014 0.0051 0 0 0.0062 0.0006 0 . . 0.372 . -0.417 -0.417000 . . . . . 1.0E-183 0.000 0.063 . 0.043 0.004 . 0.059 . 0.011 -0.417 -0.219 . . . rs368930530 rs368930530 1 1538 10 1/0 0,185,255 +rs75599746 3 195511513 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511513 195511513 Chr3(GRCh37):g.195511513G>A 6938 6938 NM_018406.6:c.6938C>T p.Ala2313Val p.Ala2313Val 2 158372 -5853 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 Cryptic Acceptor Strongly Activated 195511504 2.45628 0.645482 3.62808 0.791765 rs75599746 yes no Frequency 1 0.000000 0 0.001153 0.003993 0.000401 0.000175 0.000439 0.000126 0.001350 0.002317 0.000371 0.003993 123 18 6 1 2 2 59 34 1 106690 4508 14978 5710 4558 15864 43708 14672 2692 0.000150 0.001775 0.000000 0.000000 0.000000 0.000000 0.000046 0.000409 0.000000 8 4 0 0 0 0 1 3 0 107 10 6 1 2 2 57 28 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.974 A Ala GCA 0.226 V Val GTA 0.114 2313 12 2 C. elegans 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.18 III.79 215 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C6938T:p.A2313V MUC4:NM_018406:exon2:c.C6938T:p.A2313V . . 0.22131148 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.332 . . 244.0 . . . . . . . . . . -1.6464 -1.798 -1.646 c . . . . . 2.235e-04 . . . 0.0107 0.0003 0 0 0 0 0 0 0.0102 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.342 . . exonic exonic exonic . . . @ . . . 0.2 0.13 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.060 . . . . . . . Likely_benign . 0 . 0.111 . . . . . . . . . 37 . 0.135 . . 0.151 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.378 . . 0.250 . . . . . . 2 0.010 . . . . . 0.155 . 0.309 . HET . rs75599746 . . . . . . . . . . . . V.01 0.133178 . . . . . E7ESK3 . . . . . 0.009 . . . 0.0084 0.0011 0.0003 0.0002 0.0003 0.0022 0.0015 0.0005 0.0001 0.0011 0.0012 0.0019 0 0.0010 0.0028 0.0009 0 . . 0.372 . -1.752 -1.752000 . . . . . 1.0E-215 0.001 0.137 . 0.062 0.034 . 0.022 . 0.007 -1.752 -2.009 . . . rs71321833 rs71321833 1 1538 10 1/0 0,198,255 +rs74542179 3 195511547 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511547 195511547 Chr3(GRCh37):g.195511547C>T 6904 6904 NM_018406.6:c.6904G>A p.Ala2302Thr p.Ala2302Thr 2 158372 -5887 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs74542179 yes no Frequency 1 0.000000 0 0.000208 0.001460 0.000138 0.000000 0.000000 0.000000 0.000200 0.000498 0.000429 0.001460 18 4 2 0 0 0 7 4 1 86558 2740 14500 5484 2924 15536 35010 8034 2330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 4 2 0 0 0 7 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.409 A Ala GCC 0.403 T Thr ACC 0.361 2302 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.37 III.79 185 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G6904A:p.A2302T MUC4:NM_018406:exon2:c.G6904A:p.A2302T . . 0.1241535 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.177 . . 443.0 . . . . . . . . . . -1.9988 -2.063 -1.999 c . . . . . 1.974e-04 . . . 0.0054 0.0004 0 0 0 0.0002 0 0.0001 0.0033 0.0002 0 0 0 0.0003 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.352 . . exonic exonic exonic . . . @ . . . 0.21 0.21 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.041 . . . . . . . Likely_benign . 0 . 0.253 . . . . T 0.063 0.003 . . 37 . 0.096 . . 0.166 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.066 . . 0 0 0 0 0 0 . 0.119 . . 0.013 . . . . . . 2 0.318 . . . . . 0.039 . 0.169 . LowAF . rs74542179 . . . . . . . . . . . . II.43 0.045635 . . . . . E7ESK3 . . . . . 0.002 . . . 0 0.0001 0.0001 0 0 0.0003 0.0002 0 0 0.0034 0.0012 0 0 0 0.0030 0.0002 0.0046 . . 0.372 . -1.879 -1.879000 . . . . . 1.0E-185 0.000 0.063 . 0.090 0.298 . 0.024 . 0.244 -1.879 0.542 . . . rs74542179 rs74542179 1 1538 10 1/0 0,164,252 +rs79961534 3 195511556 T A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195511556 195511556 Chr3(GRCh37):g.195511556T>A 6895 6895 NM_018406.6:c.6895A>T p.Thr2299Ser p.Thr2299Ser 2 158372 -5896 5' 77.2234 6.52465 0.599243 VI.07 77.2234 6.52465 0.599243 VI.07 0 rs79961534 yes no Frequency 1 0.000000 0 0.000062 0.000277 0.000000 0.000000 0.000000 0.000097 0.000040 0.000000 0.000000 0.000277 4 2 0 0 0 1 1 0 0 64038 7208 10858 2362 1606 10340 24954 5022 1688 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.000 0.044 T Thr ACA 0.280 S Ser TCA 0.148 2299 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.45 III.79 200 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A6895T:p.T2299S MUC4:NM_018406:exon2:c.A6895T:p.T2299S . . 0.15936255 . . @ 80 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.043 . . 502.0 . . . . . . . . . . -1.2340 -1.343 -1.234 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . . @ . . . 0.14 0.15 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.111 . . . . T 0.172 0.006 . . 37 . 0.130 . . 0.145 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.334 . . 0.223 . . . . . . 2 0.538 . . . . . 0.049 . 0.044 . HET . rs79961534 . . . . . . . . . . . . II.52 0.043651 . . . . . E7ESK3 . . . . . 0.022 . . . 0 3.752e-05 0 0 0 0 5.22e-05 0 9.671e-05 0.0006 0.0002 0 0 0 0 0 0 . . 0.372 . 0.408 0.408000 . . . . . 1.0E-200 0.000 0.063 . 0.104 0.092 . 0.029 . 0.246 0.408 0.615 . . . rs79961534 rs79961534 1 1538 10 1/0 0,162,246 +rs199625793 3 195512568 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195512568 195512568 Chr3(GRCh37):g.195512568T>C 5883 5883 NM_018406.6:c.5883A>G p.Val1961= p.Val1961Val 2 158372 5801 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Strongly Activated 195512560 3.63399 0.544819 4.33178 0.679925 rs199625793 yes no Frequency 1 0.000000 0 0.002430 0.005591 0.001258 0.000824 0.002844 0.000791 0.001579 0.007977 0.002520 0.007977 328 49 23 6 18 15 90 118 9 134972 8764 18288 7280 6330 18956 56990 14792 3572 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 328 49 23 6 18 15 90 118 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.602 V Val GTA 0.114 V Val GTG 0.468 1961 176 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A5883G:p.V1961V MUC4:NM_018406:exon2:c.A5883G:p.V1961V . . 0.119878605 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 659.0 . . . . . . . . . . -0.3468 . . . . . . . . 4.749e-04 . . . 0.0020 0.0014 0.0023 0.0033 0 0.0018 0 0.0006 0.0006 0.0003 0 0.0019 0 0 0 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.31 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs199625793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0026 0.0012 0.0008 0.0033 0.0087 0.0018 0.0030 0.0008 0.0042 0.0016 0.0025 0 0 0.0014 0.0007 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs199625793 rs199625793 1 1538 14 1/0 0,147,255 +rs77396971 3 195513426 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195513426 195513426 Chr3(GRCh37):g.195513426G>T 5025 5025 NM_018406.6:c.5025C>A p.Thr1675= p.Thr1675Thr 2 158372 4943 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Donor Strongly Activated 195513425 0.009933 63.4885 3.34011 0.32653 72.4027 rs77396971 yes no Frequency/1000G 2 0.000000 0 0.299321 0.311600 0.289400 0.348200 0.290300 0.232000 transversion C A C>A 0.000 -0.198 T Thr ACC 0.361 T Thr ACA 0.280 1675 255 PASS . . . . . 0.31 0.3 0.23 0.35 0.29 0.29 . MUC4:uc021xjp.1:exon2:c.C5025A:p.T1675T MUC4:NM_018406:exon2:c.C5025A:p.T1675T . . 0.3870403 . . @ 221 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 571.0 . . . . . . . . . . -0.8018 . . . . . . . . . . . . 0.1604 0.2564 0.2895 0.4161 0.2635 0.2521 0.3026 0.2714 0.1074 0.2548 0.2901 0.4008 0.3606 0.2214 0.3187 0.2717 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.2993 . . . 0.23 0.19 182 ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs77396971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77396971 rs77396971 1 1538 10 1/0 0,177,215 +rs201194776 3 195513515 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195513515 195513515 Chr3(GRCh37):g.195513515C>T 4936 4936 NM_018406.6:c.4936G>A p.Ala1646Thr p.Ala1646Thr 2 158372 4854 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 rs201194776 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.001000 0.001400 0.000333 0.000976 0.000235 0.000000 0.001571 0.000054 0.000252 0.000297 0.000916 0.001571 42 11 4 0 6 1 13 4 3 126174 11272 17024 7246 3820 18426 51638 13472 3276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 11 4 0 6 1 13 4 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.619 A Ala GCC 0.403 T Thr ACC 0.361 1646 12 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Not scored 0.0 0.0 132 PASS . . . . . 0.0008 0.0006 0.0014 . 0.001 . . MUC4:uc021xjp.1:exon2:c.G4936A:p.A1646T MUC4:NM_018406:exon2:c.G4936A:p.A1646T . . 0.10220126 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.083 . @ . . . . . 1 0.180 . . 636.0 . . . . . . . . . . -1.8953 -2.007 -1.895 c . . . . . 3.105e-04 . . . 0.0031 0.0010 0.0026 0.0076 0 0.0009 0 0.0003 0.0022 0.0007 0.0032 0.0041 0 0.0009 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.090 0.0006 . . . 0.22 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.002 0.091 . . . . . . . Likely_benign . 0 . . . . . . T 0.011 0.001 . . 37 . 0.150 . . 0.224 . . . . 0.217 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.119 . . 0.013 . . . . . . 2 0.221 . . . . . 0.036 . 0.103 . LowAF . rs201194776 . . . . . . . . . . . . 2.184 0.002874 . 0.605 -1.21 . . E7ESK3 . . . . . 0.002 . . . 0.0011 0.0002 0.0002 0 0.0018 0 0.0002 0 5.427e-05 0.0009 0.0011 0.0026 0 0 0.0035 0.0007 0.0066 . . 0.372 . -2.601 -2.601000 . . . . . 1.0E-132 0.000 0.063 . 0.090 0.024 . 0.021 . 0.244 -2.601 0.542 . . . rs201194776 rs201194776 1 1538 10 1/0 0,148,245 +rs200981553 3 195513846 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195513846 195513846 Chr3(GRCh37):g.195513846C>G 4605 4605 NM_018406.6:c.4605G>C p.Met1535Ile p.Met1535Ile 2 158372 4523 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Weakly Activated 195513828 6.99087 0.676627 74.3952 7.36237 0.773903 74.3952 rs200981553 yes no Frequency 1 0.000000 0 0.001110 0.004219 0.001303 0.000649 0.001463 0.000650 0.001137 0.000589 0.000465 0.004219 94 14 15 3 8 8 38 7 1 84698 3318 11510 4620 5468 12312 33428 11892 2150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 94 14 15 3 8 8 38 7 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -2.297 M Met ATG 1.000 I Ile ATC 0.481 1535 12 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.46 III.72 212 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G4605C:p.M1535I MUC4:NM_018406:exon2:c.G4605C:p.M1535I . . 0.18831168 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.017 . . 308.0 . . . . . . . . . . -1.9591 -2.047 -1.959 c . . . . . 1.856e-04 . . . 0 0.0005 0 0 0 0.0017 0 0 0 0.0004 0 0 0 0.0021 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . . @ . . . 0.26 0.23 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.071 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.046 0.002 . . 37 . 0.111 . . 0.237 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.167 . . . . . 0.037 . 0.032 . HET . rs200981553 . . . . . . . . . . . . II.36 . . . . . . E7ESK3 . . . . . 0.002 . . . 0.0043 0.0009 0.0012 0.0007 0.0010 0.0003 0.0010 0.0005 0.0006 0.0041 0.0035 0.0089 0 0.0051 0.0039 0.0026 0 . . 0.283 . -1.916 -1.916000 . . . . . 1.0E-212 0.000 0.063 . 0.074 0.001 . 0.098 . 0.003 -1.916 -2.298 . . . rs200981553 rs200981553 1 1538 10 1/0 0,186,255 +rs200019432 3 195513847 A G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195513847 195513847 Chr3(GRCh37):g.195513847A>G 4604 4604 NM_018406.6:c.4604T>C p.Met1535Thr p.Met1535Thr 2 158372 4522 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 rs200019432 yes no Frequency 1 0.000000 0 0.001424 0.006371 0.001392 0.000654 0.002559 0.001383 0.001207 0.000254 0.002786 0.006371 120 21 16 3 14 17 40 3 6 84256 3296 11492 4590 5470 12290 33148 11816 2154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 21 16 3 14 17 40 3 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.974 M Met ATG 1.000 T Thr ACG 0.116 1535 12 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 353.86 0.00 Tolerated 0.83 III.72 225 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.T4604C:p.M1535T MUC4:NM_018406:exon2:c.T4604C:p.M1535T . . 0.22627737 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.006 . . 274.0 . . . . . . . . . . -2.0198 -2.086 -2.020 c . . . . . . . . . 0.0034 0.0009 0 0 0 0.0014 0 0 0.0059 0.0009 0 0 0 0.0016 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . . @ . . . 0.26 0.2 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.093 0.004 . . 37 . 0.094 . . 0.279 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 2 0.056 . . . . . 0.124 . 0.029 . HET . rs200019432 . . . . . . . . . . . . IV.44 . . . . . . E7ESK3 . . . . . 0.001 . . . 0.0064 0.0013 0.0012 0.0007 0.0020 9.24e-05 0.0011 0.0031 0.0014 0.0062 0.0039 0.0091 0 0.0069 0.0020 0.0029 0 . . 0.283 . -1.995 -1.995000 . . . . . 1.0E-225 0.000 0.063 . 0.062 0.000 . 0.163 . 0.005 -1.995 -2.360 . . . rs200019432 rs200019432 1 1538 10 1/0 0,194,255 +rs200851738 3 195514470 C G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195514470 195514470 Chr3(GRCh37):g.195514470C>G 3981 3981 NM_018406.6:c.3981G>C p.Met1327Ile p.Met1327Ile 2 158372 3899 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Weakly Activated 195514452 6.99087 0.676627 74.3952 7.36237 0.773903 74.3952 rs200851738 yes no Frequency 1 0.000000 0 0.007862 0.021739 0.007980 0.006818 0.012543 0.007077 0.010244 0.000862 0.014286 0.021739 223 8 50 6 22 40 83 4 10 28364 368 6266 880 1754 5652 8102 4642 700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 8 50 6 22 40 83 4 10 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 -1.489 M Met ATG 1.000 I Ile ATC 0.481 1327 12 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.16 IV.32 212 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.G3981C:p.M1327I MUC4:NM_018406:exon2:c.G3981C:p.M1327I . . 0.1908397 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.023 . . 131.0 . . . . . . . . . . -1.8162 -1.895 -1.816 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.278 . . exonic exonic exonic . . . @ . . . 0.24 0.19 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.048 0.002 . . 37 . 0.111 . . 0.237 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.112 . . 0.013 . . . . . . 2 0.096 . . . . . 0.035 . 0.026 . HET . rs200851738 . . . . . . . . . . . . 2.1349 . . . . . . E7ESK3 . . . . . 0.013 . . . 0.0233 0.0081 0.0080 0.0068 0.0129 0.0009 0.0107 0.0150 0.0071 0 0 0 . 0 0 0 0 . . 0.283 . -1.922 -1.922000 . . . . . 1.0E-212 0.000 0.063 . 0.104 0.008 . 0.035 . 0.003 -1.922 -2.395 . . . rs200851738 rs200851738 1 1538 10 1/0 0,222,255 +rs79746945 3 195514990 T G - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195514990 195514990 Chr3(GRCh37):g.195514990T>G 3461 3461 NM_018406.6:c.3461A>C p.His1154Pro p.His1154Pro 2 158372 3379 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 rs79746945 yes no Frequency 1 0.000000 0 0.000561 0.002349 0.000444 0.000148 0.002396 0.000178 0.000569 0.000396 0.001187 0.002396 57 8 6 1 7 3 23 6 3 101540 3406 13514 6760 2922 16862 40412 15136 2528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 8 6 1 7 3 23 6 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.031 -1.812 H His CAT 0.413 P Pro CCT 0.283 1154 12 1 -2 -2 -4 0.58 0.39 10.IV 8 96 32.5 77 C0 353.86 0.00 Tolerated 0.58 IV.32 164 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.A3461C:p.H1154P MUC4:NM_018406:exon2:c.A3461C:p.H1154P . . 0.104347825 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.015 . . 230.0 . . . . . . . . . . -1.9566 -2.048 -1.957 c . . . . . 5.979e-05 . . . 0 0.0001 0 0 0 0 0 0.0003 0 0.0001 0 0 0 0 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.307 . . exonic exonic exonic . . 0.094 @ . . . 0.2 0.12 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.055 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.149 . . 0.281 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.125 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 2 0.105 . . . . . 0.152 . 0.121 . LowAF . rs79746945 . . . . . . . . . . . . V.13 . . 0.534 -1.07 . . E7ESK3 . . . . . 0.007 . . . 0.0024 0.0004 0.0004 0.0001 0.0024 6.694e-05 0.0004 0.0008 0.0002 0.0022 0.0055 0.0091 0 0 0.0253 0.0048 0.0102 . . 0.283 . -1.690 -1.690000 . . . . . 1.0E-164 0.002 0.151 . 0.095 0.007 . 0.051 . 0.017 -1.690 -2.407 . . . rs79746945 rs79746945 1 1538 10 1/0 0,191,255 +rs747366842 3 195515052 G C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195515052 195515052 Chr3(GRCh37):g.195515052G>C 3399 3399 NM_018406.6:c.3399C>G p.His1133Gln p.His1133Gln 2 158372 3317 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Donor Strongly Activated 195515057 3.34011 0.32653 72.4027 7.19963 0.921257 85.0987 rs747366842 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000043 1 0 1 0 0 0 0 0 0 139888 7012 23418 7698 9824 21876 52556 13780 3724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 217 Exomes transversion C G C>G 0.000 -0.844 H His CAC 0.587 Q Gln CAG 0.744 1133 12 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.08 IV.32 190 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C3399G:p.H1133Q MUC4:NM_018406:exon2:c.C3399G:p.H1133Q . . 0.14921466 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.076 . . 382.0 . . . . . . . . . . -0.8694 -1.133 -0.869 c . . . . . 5.830e-05 . . . 0 0.0002 0 0 0 0.0005 0 0 0 7.062e-05 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.269 . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.212 . . 0.194 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.577 . . 0.615 . . . . . . 2 0.274 . . . . . 0.196 . 0.026 . LowAF . rs747366842 . . . . . . . . . . . . VI.74 . . 0.814 -1.63 . . E7ESK3 . . . . . 0.012 . . . 0 7.149e-06 4.27e-05 0 0 0 0 0 0 . . . . . . . . . . 0.372 . -1.056 -1.056000 . . . . . 1.0E-190 0.000 0.063 . 0.043 0.006 . 0.015 . 0.276 -1.056 0.345 . . . . . 1 1538 10 1/0 0,173,255 +rs544059785 3 195515123 T C - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195515123 195515123 Chr3(GRCh37):g.195515123T>C 3328 3328 NM_018406.6:c.3328A>G p.Thr1110Ala p.Thr1110Ala 2 158372 3246 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Strongly Activated 195515113 3.83437 0.042343 71.1372 4.62327 0.104967 71.1372 rs544059785 yes no Frequency/1000G 2 0.000000 0 0.014976 0.006100 0.008200 0.006000 0.031800 0.030300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 109390 4646 15846 6892 3662 17460 43970 14054 2860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.328 T Thr ACT 0.243 A Ala GCT 0.263 1110 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.17 III.91 202 PASS . . . . . 0.0061 0.015 0.03 0.006 0.032 0.0082 . MUC4:uc021xjp.1:exon2:c.A3328G:p.T1110A MUC4:NM_018406:exon2:c.A3328G:p.T1110A . . 0.19661734 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.049 . . 473.0 . . . . . . . . . . -1.0157 -1.228 -1.016 c . . . . . 2.075e-03 . . . 0 0.0054 0.0063 0.0079 0 0.0066 0.0130 0.0049 0 0.0048 0.0085 0.0035 0 0.0069 0.0132 0.0049 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.330 . . exonic exonic exonic . . 0.079 0.0150 . . . 0.17 0.17 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.042 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.162 . . 0.165 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.096 . . 0 0 0 0 0 0 . 0.459 . . 0.394 . . . . . . 2 0.250 . . . . . 0.199 . 0.199 . HET . rs544059785 . . . . . . . . . . . . VI.59 0.010836 . 0.814 -1.63 . . E7ESK3 . . . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.283 . -0.801 -0.801000 . . . . . 1.0E-202 0.000 0.063 . 0.016 0.002 . 0.006 . 0.002 -0.801 -1.756 . . . . . 1 1538 14 1/0 0,169,255 +rs562482736 3 195515124 G A - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution synonymous exon GRCh37 195515124 195515124 Chr3(GRCh37):g.195515124G>A 3327 3327 NM_018406.6:c.3327C>T p.Asp1109= p.Asp1109Asp 2 158372 3245 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 Cryptic Acceptor Strongly Activated 195515113 3.83437 0.042343 71.1372 V.17 0.093208 75.2391 rs562482736 yes no Frequency/1000G 2 0.000000 0 0.014976 0.006100 0.008200 0.006000 0.031800 0.030300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144300 7038 23580 8008 9872 22370 54392 15218 3822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 243 Exomes transition C T C>T 0.000 0.044 D Asp GAC 0.539 D Asp GAT 0.461 1109 201 PASS . . . . . 0.0061 0.015 0.03 0.006 0.032 0.0082 . MUC4:uc021xjp.1:exon2:c.C3327T:p.D1109D MUC4:NM_018406:exon2:c.C3327T:p.D1109D . . 0.1602434 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 493.0 . . . . . . . . . . -0.1403 . . . . . . . . 2.065e-03 . . . 0 0.0051 0.0057 0.0075 0 0.0064 0.0120 0.0048 0 0.0046 0.0079 0.0035 0 0.0067 0.0127 0.0049 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . . . . ENSG00000145113 MUC4 MUC4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs562482736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +rs374418206 3 195515134 G T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195515134 195515134 Chr3(GRCh37):g.195515134G>T 3317 3317 NM_018406.6:c.3317C>A p.Pro1106His p.Pro1106His 2 158372 3235 3' 88.8548 8.48732 0.836815 VI.93 88.8548 8.48732 0.836815 VI.93 0 rs374418206 no no 0 0.000000 0 0.000006 0.000076 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000076 1 1 0 0 0 0 0 0 0 154464 13146 22746 7826 8788 21398 60632 15900 4028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.031 0.932 P Pro CCT 0.283 H His CAT 0.413 1106 12 1 -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 353.86 0.00 Deleterious 0.03 III.91 188 PASS . . . . . . . . . . . . MUC4:uc021xjp.1:exon2:c.C3317A:p.P1106H MUC4:NM_018406:exon2:c.C3317A:p.P1106H . . 0.1802935 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.196 . . 477.0 . . . . . . . . . . -0.4241 -0.660 -0.424 c . . . . . . . . . 0 6.007e-05 0.0028 0 0 0 0 0 0 6.913e-05 0.0038 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.340 . . exonic exonic exonic . . 0.178 @ . . . 0.17 0.14 182 ENSG00000145113 MUC4 MUC4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.382 . . 0.224 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.764 . . 0.774 . . . . . . 2 0.291 . . . . . 0.271 . 0.171 . HET . rs374418206 . . . . . . . . . . . . VII.32 0.006472 . 0.814 0.814 . . E7ESK3 . . . . . 0.109 . . . 0 0 0 0 0 0 0 0 0 0.0002 5.697e-05 0 0 0 0 0 0 . . 0.372 . 0.776 0.776000 . . . . . 1.0E-188 0.013 0.187 . 0.083 0.003 . 0.381 . 0.276 0.776 0.345 . . . rs374418206 rs374418206 1 1538 10 1/0 0,167,255 +rs112836612 3 195538675 C T - MUC4 7514 Mucin 4, cell surface associated NM_018406.6 -1 16806 16239 NP_060876.5 substitution missense exon GRCh37 195538675 195538675 Chr3(GRCh37):g.195538675C>T 14 14 NM_018406.6:c.14G>A p.Arg5His p.Arg5His 1 158372 -69 5' 100 X.83 0.997724 X.61 100 X.83 0.997724 10.364 0 rs112836612 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.003000 0.002900 0.003384 0.000917 0.000756 0.001382 0.000318 0.000487 0.005053 0.007729 0.002634 0.007729 934 22 26 14 6 15 635 199 17 276038 23996 34398 10128 18856 30780 125680 25746 6454 0.000051 0.000000 0.000058 0.000000 0.000000 0.000000 0.000080 0.000078 0.000000 7 0 1 0 0 0 5 1 0 920 22 24 14 6 15 625 197 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4402 12977 25 4 29 0.00290698 0.000907853 0.00222974 0.00290698 0.000907853 0.00222974 67 transition G A G>A 0.000 -1.651 R Arg CGC 0.190 H His CAC 0.587 5 12 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.19 IV.32 255 PASS . 0.0014 . . 0.004 . 0.0014 0.0029 . 0.003 0.002 . . . . . 0.4 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.128 . @ . . . . . 1 0.082 . . 45.0 . . . 0.0009 0.0022 0.0029 0.0009 0.0022 0.0029 . -1.6334 -1.724 -1.633 c . . . . . 3.339e-03 . . . 0.0014 0.0026 0.0008 0.0002 0.0098 0.0039 0.0072 0.0004 0.0016 0.0031 0.0006 0.0001 0.0090 0.0044 0.0074 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.390 . . exonic exonic exonic . . 0.011 0.0014 . . . 0.22 0.48 182 ENSG00000145113 MUC4 MUC4 . . . 1.000 0.473 . 181 0.00278564 64976 174 0.00290068 59986 Likely_benign . 0 . . . . . . T 0.242 0.009 . . 37 . 0.150 . . 0.305 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.237 . . 0.063 . . . . . . 0 0.912 . . . . . 0.367 . 0.078 . HET 0 rs112836612 0.011 0.007 . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 IX.66 0.00107 . III.87 -7.74 . 0.530000 . . . . 0.002230 . 0.012 . . . 0.0010 0.0032 0.0007 0.0013 0.0003 0.0079 0.0047 0.0018 0.0005 0.0007 0.0049 0.0012 0.0033 0 0.0069 0.0075 0.0071 . . 0.351 . -2.046 -2.046000 . . 0.530000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.027 . 0.013 -2.046 -0.008 0.011 . . rs112836612 rs112836612 1 1538 10 1/0 0,255,255 +rs112362099 3 195591020 T G - TNK2 19297 Tyrosine kinase, non-receptor, 2 NM_001010938.1 -1 4222 3261 NP_001010938.1 substitution 3'UTR GRCh37 195591020 195591020 Chr3(GRCh37):g.195591020T>G *32 *32 NM_001010938.1:c.*32A>C p.? p.? 15 606994 39 3' 83.3085 6.72389 0.967027 7.38287 83.3085 6.72389 0.967027 7.59498 0 Cryptic Acceptor Strongly Activated 195591017 0.000784 67.3109 2.70151 0.052097 77.2783 rs112362099 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.002000 0.000000 0.011900 0.005800 0.007730 0.001707 0.002676 0.003452 0.000000 0.001137 0.013826 0.006128 0.006834 0.013826 2123 41 92 35 0 35 1718 158 44 274652 24014 34384 10140 18850 30782 124260 25784 6438 0.000131 0.000000 0.000000 0.000000 0.000000 0.000065 0.000274 0.000000 0.000000 18 0 0 0 0 1 17 0 0 2087 41 92 35 0 33 1684 158 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8514 4403 12917 86 3 89 0.01 0.00068089 0.006843 0.01 0.00068089 0.006843 92 transversion A C A>C 0.976 2.465 255 PASS . 0.01 0.0028 . 0.01 . 0.0036 0.0058 . 0.012 0.002 . . . . . 0.47272727 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . 0.0007 0.0068 0.01 0.0007 0.0068 0.01 . I.34 . . . . . . . . 8.579e-03 . . . 0.0020 0.0060 0.0027 0 0.0074 0.0105 0.0085 0.0007 0.0021 0.0085 0.0028 0 0.0070 0.0145 0.0072 0.0007 . . . . . . UTR3 UTR3 UTR3 . . . 0.0036 . . . 0.63 0.75 182 ENSG00000061938 TNK2 TNK2 . . . . . . 601 0.00924957 64976 583 0.00971893 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112362099 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006843 . . . . IV.93 0.0016 0.0077 0.0026 0.0035 0 0.0063 0.0139 0.0064 0.0011 0.0020 0.0080 0.0072 0.0033 0 0.0052 0.0132 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs112362099 rs112362099 1 1538 10 1/0 0,251,255 +rs139593489 3 195692482 G A - SDHAP1 32455 Succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NR_003264.2 -1 2491 0 substitution intron GRCh37 195692482 195692482 Chr3(GRCh37):g.195692482G>A 2090-69 2090-69 NR_003264.2:n.2090-69C>T p.? p.? 15 14 -69 3' 82.2154 6.70128 0.573555 4.32282 82.2154 6.70128 0.573555 4.74548 0 rs139593489 yes no Frequency/1000G 2 0.000000 0 0.000476 0.000118 0.001292 0.000000 0.000702 0.000000 0.000493 0.001206 0.000000 0.001292 14 1 1 0 1 0 7 4 0 29396 8450 774 288 1424 0 14210 3316 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 1 0 1 0 7 4 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.000 -0.037 210 PASS 0.06 0.07 0.08 0.07 0.06 . . . . . . . . . . . 0.18604651 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||SDHAP1|Non-coding_transcript|NON_CODING|NR_003264|) . . . . . . . -0.3900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.37 0.08 182 ENSG00000185485 SDHAP1 SDHAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139593489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0005 0.0013 0 0.0007 0.0012 0.0005 0 . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . 0.08 . . rs139593489 rs139593489 1 1538 10 1/0 0,241,255 +rs2448507 3 195702515 A G - SDHAP1 32455 Succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NR_003264.2 -1 2491 0 substitution intron GRCh37 195702515 195702515 Chr3(GRCh37):g.195702515A>G 1387+61 1387+61 NR_003264.2:n.1387+61T>C p.? p.? 9 9 61 5' 78.2261 5.99281 0.049767 6.86301 78.2261 5.99281 0.049767 6.53374 0 rs2448507 no no 0 0.000000 0 0.006949 0.006369 0.006983 0.012000 0.004895 0.000000 0.006033 0.011628 0.012225 0.012000 181 45 5 3 7 0 78 33 10 26046 7066 716 250 1430 0 12928 2838 818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 181 45 5 3 7 0 78 33 10 0 0 0 0 0 0 0 0 0 RF 73 Genomes transition T C T>C 0.000 -0.924 177 PASS . . . . . . . . . . . . . . . . 0.10599078 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 217.0 . . INTRON(MODIFIER||||SDHAP1|Non-coding_transcript|NON_CODING|NR_003264|) . . . . . . . -0.5898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.37 0.09 182 ENSG00000185485 . SDHAP1 . dist\x3d7654\x3bdist\x3d73640 . . . . 878 0.0135127 64976 873 0.0145534 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2448507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0064 0.0069 0.0070 0.012 0.0049 0.0116 0.0060 0.0122 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs2448507 rs2448507 rs2448507 rs2448507 1 1538 10 1/0 0,193,255 +rs61738471 3 196381434 C T - NRROS 24613 Negative regulator of reactive oxygen species NM_198565.2 1 2554 2079 NP_940967.1 Q86YC3 substitution synonymous exon GRCh37 196381434 196381434 Chr3(GRCh37):g.196381434C>T 24 24 NM_198565.2:c.24C>T p.Leu8= p.Leu8Leu 2 615322 37 3' 87.3558 14.1568 0.971519 13.0276 87.3558 14.1568 0.971519 XII.47 0 rs61738471 yes no Frequency/1000G 2 C 0.000000 0 0.012180 0.000000 0.059300 0.000000 0.000000 0.004300 0.007892 0.000125 0.002644 0.011823 0.000265 0.052924 0.002289 0.000039 0.007580 0.052924 2188 3 91 120 5 1629 290 1 49 277230 24038 34418 10150 18870 30780 126718 25792 6464 0.000519 0.000000 0.000000 0.000394 0.000000 0.004418 0.000016 0.000000 0.000309 72 0 0 2 0 68 1 0 1 2044 3 91 116 5 1493 288 1 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4404 12979 25 2 27 0.00290698 0.000453926 0.00207596 0.00290698 0.000453926 0.00207596 121 transition C T C>T 0.992 -0.037 L Leu CTC 0.197 L Leu CTT 0.129 8 255 PASS . 0.0009 0.01 . . . 0.012 0.0043 . . 0.059 ENSG00000174004:ENST00000328557:exon2:c.C24T:p.L8L LRRC33:uc003fwv.3:exon2:c.C24T:p.L8L NRROS:NM_198565:exon2:c.C24T:p.L8L . . 0.56962025 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L8|NRROS|mRNA|CODING|NM_198565|NM_198565.ex.2) 0.0005 0.0021 0.0029 0.0005 0.0021 0.0029 . I.73 . . . . . . . . 8.982e-03 . . . 0.0003 0.0120 0.0023 0.0004 0 0.0040 0.0084 0.0534 0.0003 0.0102 0.0022 0.0003 0 0.0031 0.0058 0.0536 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0122 . . . 0.43 0.55 182 ENSG00000174004 LRRC33 NRROS . . . . . . 209 0.00321657 64976 148 0.00246724 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61738471 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.002076 . . . . . 0.0001 0.0087 0.0026 0.0120 0.0002 4.484e-05 0.0024 0.0078 0.0529 0.0001 0.0013 0.0036 0.0066 0.0006 0 0.0017 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61738471 rs61738471 rs61738471 rs61738471 1 1538 10 1/0 0,255,255 +rs35430440 3 196807928 A C - DLG1 2900 Discs, large homolog 1 (Drosophila) NM_004087.2 -1 5034 2781 NP_004078.2 substitution missense exon GRCh37 196807928 196807928 Chr3(GRCh37):g.196807928A>C 1998 1998 NM_004087.2:c.1998T>G p.Asp666Glu p.Asp666Glu 18 601014 -7 5' 83.6222 7.93332 0.994398 0.962488 83.6222 7.93332 0.992181 1.29821 -0.000743163 Membrane-associated guanylate kinase (MAGUK) scaffold protein rs35430440 yes no Frequency/1000G 2 A 0.000000 0 0.005591 0.000000 0.000000 0.000000 0.019900 0.011500 0.007259 0.001709 0.007182 0.003156 0.000000 0.000914 0.011740 0.004539 0.009161 0.011740 2007 41 246 32 0 28 1484 117 59 276494 23996 34254 10140 18838 30640 126410 25776 6440 0.000109 0.000000 0.000058 0.000000 0.000000 0.000000 0.000206 0.000000 0.000311 15 0 1 0 0 0 13 0 1 1977 41 244 32 0 28 1458 117 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8479 4391 12870 115 15 130 0.0133814 0.00340445 0.01 0.0133814 0.00340445 0.01 114 transversion T G T>G 0.992 0.125 D Asp GAT 0.461 E Glu GAG 0.583 666 12 9 Frog 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 168.08 0.00 Tolerated 0.65 IV.32 good 6.08E-1 0.2254 255 PASS . 0.01 0.02 . 0.02 . 0.0056 0.011 . 0.02 . . . . . . 0.44444445 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.354 . . 63.0 . . . 0.0034 0.01 0.013 0.0034 0.01 0.013 . -0.6979 -0.497 -0.698 c . . . . . 7.105e-03 . . . 0.0022 0.0073 0.0068 0 0.0048 0.0126 0.0057 0.0009 0.0021 0.0069 0.0069 0 0.0056 0.0108 0.0044 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.822 . . exonic exonic exonic . . 0.290 0.0056 . . . 0.71 0.55 182 ENSG00000075711 DLG1 DLG1 . . . 0.129 0.171 . 816 0.0125585 64976 788 0.0131364 59986 Uncertain_significance . 0 . 0.380 . . . . . . . . . 37 . 0.415 . . 0.477 . . . 0.023 0.402 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 0 0.313 . . . . . 0.129 . 0.010 . HET 0.09 rs35430440 . 0.007 . . . . . 0.01098901098901099 0.0 0.016574585635359115 0.0 0.023746701846965697 IV.07 0.00428 . IV.89 II.47 . 0.970000 . . . . 0.010000 . 0.299 . . II.47 0.0016 0.0074 0.0072 0.0030 0 0.0046 0.0119 0.0095 0.0009 0.0018 0.0065 0.0072 0.0066 0 0.0040 0.0103 0.0072 . . 0.924 . 0.308 0.308000 . . 0.970000 . . 1.0E-255 0.976 0.346 . 0.750 1.000 . 0.159 . 0.243 0.308 1.062 0.02 rs35430440 rs35430440 rs35430440 rs35430440 1 1538 10 1/0 0,255,255 +rs573437812 3 197410024 G A - RUBCN 28991 RUN and cysteine rich domain containing beclin 1 interacting protein NM_001346873.1 -1 9394 3036 NP_001333802.1 substitution intron GRCh37 197410024 197410024 Chr3(GRCh37):g.197410024G>A 2097+154 2097+154 NM_001346873.1:c.2097+154C>T p.? p.? 15 15 613516 154 5' 89.6127 X.54 0.995257 XI.06 89.6127 X.54 0.995257 XI.06 0 rs573437812 yes no Frequency 1 G 0.000000 0 0.001291 0.000572 0.001193 0.000000 0.000000 0.000000 0.002132 0.000286 0.001018 0.002132 40 5 1 0 0 0 32 1 1 30976 8736 838 302 1620 0 15006 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 5 1 0 0 0 32 1 1 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.4888889 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.1282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000145016 KIAA0226 RUBCN . . . . . . 108 0.00166215 64976 108 0.00180042 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs573437812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0013 0.0012 0 0 0.0003 0.0021 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs11185496 (chr3:197846702 C/T) 3 197846702 C T Not on a known gene +rs181045496 3 197896656 G A - FAM157A 34079 Family with sequence similarity 157 member A (non-protein coding) NR_146164.1 1 6879 0 substitution intron GRCh37 197896656 197896656 Chr3(GRCh37):g.197896656G>A 929+1914 929+1914 NR_146164.1:n.929+1914G>A p.? p.? 4 4 1914 5' 82.9985 9.27414 0.987439 5.55525 82.9985 9.27414 0.987439 5.55525 0 rs181045496 yes no Frequency 1 0.000000 0 0.001452 0.014081 0.000420 0.000119 0.000174 0.000506 0.000518 0.000055 0.000444 0.014081 242 181 10 1 2 11 34 1 2 166612 12854 23810 8386 11496 21722 65610 18232 4502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242 181 10 1 2 11 34 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.924 198 PASS . . . . . . . . . . . . FAM157A:uc011bup.1:exon6:c.G1085A:p.G362D FAM157A:NM_001145248:exon6:c.G1085A:p.G362D . . 0.15686275 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gAt|G362D|FAM157A|mRNA|CODING|NM_001145248|NM_001145248.ex.6) . . . . . . . -1.7135 . . . . . . . . 5.202e-04 . . . 0.0042 0.0005 0 0 0 0 0 0 0.0027 0.0003 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.36 0.26 182 ENSG00000236438 FAM157A FAM157A . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs181045496 . . . . . . . . . . . . . . ENST00000431569 0.453 0.453 . . C9JC47 0.0001 0.008 . . . . . . . 0.0016 0.0003 0.0003 0.0001 0.0002 0 5.654e-05 0 0.0005 0.0278 0.0081 0.0026 0 0 0.0003 0.0025 0.0024 . . . . -0.882 -0.882000 . . . . . 1.0E-198 . . . . . . . . . -0.882 . . . . rs181045496 rs181045496 1 1538 10 1/0 0,255,255 +. 3 197945941 T C - FAM157A 34079 Family with sequence similarity 157 member A (non-protein coding) NR_146164.1 1 6879 0 substitution exon GRCh37 197945941 197945941 Chr3(GRCh37):g.197945941T>C 3436 3436 NR_146164.1:n.3436T>C 18 596 3' 81.3722 4.00422 0.702295 0 81.3722 4.00422 0.702295 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.827 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 28.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic ncRNA_intronic intergenic . . . @ . . . 0.59 0.29 182 . AL137655 . dist\x3d20055\x3bdist\x3d4427 . dist\x3d38213\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62102974 rs62102974 rs62102974 rs62102974 1 1538 10 1/0 0,255,255 +rs17857098 4 86035 C T - ZNF718 26889 Zinc finger protein 718 NM_001289931.1 1 3593 1341 NP_001276860.1 substitution intron GRCh37 86035 86035 Chr4(GRCh37):g.86035C>T 130+25989 130+25989 NM_001289931.1:c.130+25989C>T p.? p.? 3 3 25989 5' 89.9194 X.02 0.970406 6.43868 89.9194 X.02 0.970406 6.43868 0 transition C T C>T 0.024 -1.005 111 PASS . . . . . . . . . . . . . UNKNOWN . . 1.0 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 8.0 . . . . . . . . . . -0.5099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . ncRNA_exonic UTR5 exonic . . . @ . . . 0.45 0.17 182 ENSG00000255436 ZNF595 ZNF595 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . rs17857098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs113246945 4 651287 C T - PDE6B 8786 Phosphodiesterase 6B NM_000283.3 1 3403 2565 NP_000274.2 P35913 substitution splice site GRCh37 651287 651287 Chr4(GRCh37):g.651287C>T 1401+4 1401+4 NM_000283.3:c.1401+4C>T p.? p.? 10 10 180072 4 5' 71.3225 VI.47 0.5474 7.38472 71.9341 3.12146 0.224147 4.65619 -0.366864 Cryptic Acceptor Strongly Activated 651298 2.26137 0.002287 64.2521 3.27007 0.003372 68.354 rs113246945 yes no Frequency/1000G 2 benign 0.000000 0 0.015974 0.000800 0.005100 0.000000 0.056700 0.024500 0.000284 0.000167 0.000058 0.000000 0.000000 0.000000 0.000512 0.000195 0.000468 0.000512 78 4 2 0 0 0 64 5 3 274996 23928 34350 10116 18858 30758 124886 25692 6408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 78 4 2 0 0 0 64 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8089 4353 12442 511 53 564 0.0594186 0.0120291 0.0433646 0.0594186 0.0120291 0.0433646 96 RCV000153665.3 germline clinical testing Benign 1 not specified transition C T C>T 0.756 1.255 255 PASS . 0.01 0.02 . 0.03 0.0008 0.016 0.025 . 0.057 0.0051 . . . . . 0.5217391 . . germline 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000153665.3 not_specified MedGen CN169374 2 . . . 69.0 . . . 0.012 0.043 0.059 0.012 0.043 0.059 . 0.7522 . . . . . . . . 3.360e-05 . . . 0 3.539e-05 0 0 0.0003 5.325e-05 0 0 0 4.003e-05 0 0 0.0002 6.066e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0160 . . . 0.28 0.32 182 ENSG00000133256 PDE6B PDE6B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113246945 . . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000153665.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000153665.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . 0.0227 0.224 . 0.043365 . . . . 2.I 6.558e-05 9.007e-05 5.967e-05 0 0 9.003e-05 0.0001 0.0002 0 0.0003 0.0018 0 0 0 0.0009 0.0032 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.059 . . rs113246945 rs113246945 1 1538 10 1/0 0,255,255 +. 4 1073461 T C - RNF212 27729 Ring finger protein 212 NM_001131034.3 -1 2390 894 NP_001124506.1 Q495C1 substitution synonymous exon GRCh37 1073461 1073461 Chr4(GRCh37):g.1073461T>C 480 480 NM_001131034.3:c.480A>G p.Glu160= p.Glu160Glu 8 612041 16 3' 82.2031 8.15609 0.634725 3.52513 82.2031 8.15609 0.662675 3.52653 0.0146783 Cryptic Donor Strongly Activated 1073461 0.000687 52.7015 1.51603 0.030388 64.8375 rs892869552 no no 0 T 0.000000 0 transition A G A>G 0.512 -2.135 E Glu GAA 0.417 E Glu GAG 0.583 160 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.4067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000178222 RNF212 RNF212 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs116258373 4 1303550 C T - MAEA 13731 Macrophage erythroblast attacher NM_001017405.2 1 2233 1191 NP_001017405.1 Q7L5Y9 substitution intron GRCh37 1303550 1303550 Chr4(GRCh37):g.1303550C>T 70-2217 70-2217 NM_001017405.2:c.70-2217C>T p.? p.? 2 1 606801 -2217 3' 91.8398 XII.38 0.98973 17.8812 91.8398 XII.38 0.98973 17.8812 0 Cryptic Donor Strongly Activated 1303548 64.3745 6.46084 0.661415 73.2866 rs116258373 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000000 0.000000 0.000000 0.008000 0.008600 0.006860 0.001548 0.002304 0.006966 0.000000 0.001236 0.013961 0.006830 0.006543 0.013961 861 22 47 36 0 21 663 48 24 125508 14214 20400 5168 10554 16986 47490 7028 3668 0.000080 0.000000 0.000098 0.000000 0.000000 0.000000 0.000168 0.000000 0.000000 5 0 1 0 0 0 4 0 0 851 22 45 36 0 21 655 48 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.167 111 PASS . 0.0023 0.01 . 0.004 . 0.0028 0.0086 . 0.008 . . . . . . 1.0 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.3929 . . . . . . . . 2.171e-03 . . . 0 0.0031 0 0 0 0.01 0 0.0012 0 0.0029 0 0 0 0.0093 0 0.0012 . . . . . . intronic intronic intronic . . . 0.0028 . . . 0.41 0.25 182 ENSG00000090316 MAEA MAEA . . . . . . 606 0.00932652 64976 592 0.00986897 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs116258373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0062 0.0022 0.0070 0 0.0079 0.0134 0.0056 0.0012 0.0018 0.0090 0.0036 0.0066 0 0.0057 0.0152 0.0092 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.01 . . rs116258373 rs116258373 1 1538 255 1.I 0,0,255 +rs74377230 4 1388324 A C - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution missense exon GRCh37 1388324 1388324 Chr4(GRCh37):g.1388324A>C 25 25 NM_175918.3:c.25A>C p.Asn9His p.Asn9His 1 610203 rs74377230 yes no Frequency 1 A 0.000000 0 COSM1427134|COSM1427134|COSM1427134|COSM1427134|COSM1427134 Upper aerodigestive tract|Liver|Large intestine|Central nervous system|Breast 0.004013|0.000844|0.000448|0.000416|0.000408 1246|2371|2231|2405|2453 transversion A C A>C 0.031 -1.732 N Asn AAT 0.464 H His CAT 0.413 9 4 1 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 244.67 I.62 Tolerated 0.19 IV.32 good 8.169E-1 0.08865 212 PASS . . . . . . . . . . . ENSG00000179979:ENST00000324803:exon1:c.A25C:p.N9H CRIPAK:uc003gdf.2:exon1:c.A25C:p.N9H CRIPAK:NM_175918:exon1:c.A25C:p.N9H . . 0.18947369 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.004 . . 285.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Cat|N9H|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -1.7409 -1.815 -1.741 c . . . . . . . . . . . . . . . . . 0 1.152e-05 0 0.0001 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . . @ . . . 0.24 0.11 182 ENSG00000179979 CRIPAK CRIPAK . . . 0.001 0.080 . 149 0.00229315 64976 149 0.00248391 59986 Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.101 . . 0.211 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.166 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.912 . . . . . . . 0.140 . HET 0.41 rs74377230 . . . . . . . . . . . . . 0.005083 . . . . 0.090000 Q8N1N5 . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.495 . -1.644 -1.644000 . . 0.090000 . . 1.0E-212 0.001 0.137 . 0.043 0.074 . 0.014 . 0.007 -1.644 -2.067 . . . rs74377230 rs74377230 1 1538 10 1/0 0,189,255 +rs77782813 4 1388350 G A - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution synonymous exon GRCh37 1388350 1388350 Chr4(GRCh37):g.1388350G>A 51 51 NM_175918.3:c.51G>A p.Thr17= p.Thr17Thr 1 610203 rs77782813 yes no Frequency/1000G 2 0.000000 0 5669 3175 8844 2931 1231 4162 0.340814 0.279392 0.320006 0.340814 0.279392 0.320006 150 COSM3774130|COSM3774130|COSM3774130 Lung|Liver|Kidney 0.002093|0.000422|0.000572 2389|2371|1749 transition G A G>A 0.063 -0.844 T Thr ACG 0.116 T Thr ACA 0.280 17 241 PASS 0.19 0.14 0.12 0.04 0.2 . . . . . . ENSG00000179979:ENST00000324803:exon1:c.G51A:p.T17T CRIPAK:uc003gdf.2:exon1:c.G51A:p.T17T CRIPAK:NM_175918:exon1:c.G51A:p.T17T . . 0.27436823 . . @ 76 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 277.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T17|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) 0.28 0.32 0.34 0.28 0.32 0.34 . -0.3398 . . . . . . . . . . . . 0.0043 0.0042 0.0006 0 0.0126 0.0080 0.0077 0.0011 0.0047 0.0042 0.0007 0.0001 0.0078 0.0083 0.0052 0.0011 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.09 182 ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77782813 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.320006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . 0.34 . . rs77782813 rs77782813 1 1538 10 1/0 0,198,248 +. 4 1388375 T TCA - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 duplication frameshift exon GRCh37 1388377 1388378 Chr4(GRCh37):g.1388376_1388377dup 77 78 NM_175918.3:c.77_78dup p.Cys27Hisfs*164 p.Cys27Hisfs*164 1 610203 rs533172496 yes no Frequency/1000G 2 0.156150 CA 782 0.156150 0.195200 0.171800 0.027800 0.228600 0.141200 0.000056 0.000000 0.000000 0.000000 0.000000 0.000000 0.000126 0.000000 0.000000 0.000126 11 0 0 0 0 0 11 0 0 195916 13984 25644 7924 17810 24938 87012 14232 4372 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5445881|COSM1427135|COSM1427135|COSM1427135|COSM1427135 Thyroid|Skin|Oesophagus|Central nervous system|Breast 0.004016|0.000812|0.000712|0.000832|0.000815 747|1232|1405|2405|2453 CA 255 Pass . . . . . 0.2 0.16 0.14 0.028 0.23 0.17 ENSG00000179979:ENST00000324803:exon1:c.76_77insCA:p.S26fs CRIPAK:uc003gdf.2:exon1:c.76_77insCA:p.S26fs CRIPAK:NM_175918:exon1:c.76_77insCA:p.S26fs . . 0.34951457 . . . 108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 309 . . FRAME_SHIFT(HIGH||||CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . . . . . . . . . . 8.015e-05 . . . 0.0003 0.0001 0 0 0 0.0002 0 0.0002 0.0003 0.0001 0 0 0 0.0001 0 0.0002 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs533172496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.08e-05 0 0 0 0 2.418e-05 0 0 0 0.0008 0 0 0 0 0.0021 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +rs55884223 4 1388378 T C - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution missense exon GRCh37 1388378 1388378 Chr4(GRCh37):g.1388378T>C 79 79 NM_175918.3:c.79T>C p.Cys27Arg p.Cys27Arg 1 610203 rs55884223 yes no Frequency/1000G 2 0.000000 0 0.156150 0.195200 0.171800 0.027800 0.228600 0.141200 0.000273 0.000822 0.000271 0.000000 0.000099 0.000060 0.000188 0.000667 0.001131 0.000822 35 8 4 0 1 1 11 7 3 128392 9732 14758 5602 10132 16530 58486 10500 2652 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 8 4 0 1 1 11 7 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4596372|COSM4596372|COSM4596372 Upper aerodigestive tract|Liver|Haematopoietic and lymphoid tissue 0.004815|0.000422|0.000567 1246|2371|3530 transition T C T>C 0.689 -0.521 C Cys TGT 0.448 R Arg CGT 0.082 27 4 2 Chimp -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 159.42 73.27 Tolerated 0.16 III.55 bad 8.732E-6 0.0225 255 PASS . . . . . 0.2 0.16 0.14 0.028 0.23 0.17 ENSG00000179979:ENST00000324803:exon1:c.T79C:p.C27R CRIPAK:uc003gdf.2:exon1:c.T79C:p.C27R CRIPAK:NM_175918:exon1:c.T79C:p.C27R . . 0.48341233 . . @ 102 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.008 . . 211.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C27R|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -1.4711 -1.565 -1.471 c . . . . . 9.273e-05 . . . 0.0004 0.0002 0 0 0 0.0002 0 0.0002 0.0005 0.0002 0 0 0 0.0002 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.078 0.1562 . . . 0.24 0.1 182 ENSG00000179979 CRIPAK CRIPAK . . . 0.000 0.056 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.086 . . 0.403 . . . 0.033 0.336 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.200 . . 0.112 . . . . . . 0 0.137 . . . . . 0.034 . 0.289 . HET 0.54 rs55884223 . . . . . . . . . . . . 2.0645 . . 0.824 -1.65 . 0.730000 Q8N1N5 . . . . . 0.037 . . . 0.0004 0.0001 0.0003 0 0.0001 0 3.612e-05 0.0008 6.05e-05 0.0022 0.0028 0 0 0 0.0122 0.0029 0.0046 . . 0.495 . -0.973 -0.973000 . . 0.730000 . . 1.0E-255 0.015 0.189 . 0.062 0.094 . 0.015 . 0.003 -0.973 0.000 . rs55884223 rs55884223 rs55884223 rs55884223 1 1538 10 1/0 0,226,243 +rs56109734 4 1388379 G A - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution missense exon GRCh37 1388379 1388379 Chr4(GRCh37):g.1388379G>A 80 80 NM_175918.3:c.80G>A p.Cys27Tyr p.Cys27Tyr 1 610203 rs56109734 yes no Frequency/1000G 2 0.000000 0 0.120208 0.130100 0.143100 0.020800 0.189900 0.112400 0.000441 0.000000 0.000047 0.000000 0.000000 0.000000 0.000906 0.000608 0.000589 0.000906 69 0 1 0 0 0 59 7 2 156620 12156 21106 6244 17018 20102 65094 11506 3394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 0 1 0 0 0 59 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM447394|COSM447394|COSM447394 Upper aerodigestive tract|Haematopoietic and lymphoid tissue|Central nervous system 0.004013|0.000283|0.000832 1246|3530|2405 transition G A G>A 0.831 1.497 C Cys TGT 0.448 Y Tyr TAT 0.438 27 4 2 Chimp -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 159.42 90.06 Tolerated 0.14 III.55 good 8.413E-2 0.0225 255 PASS . . . . . 0.13 0.12 0.11 0.021 0.19 0.14 ENSG00000179979:ENST00000324803:exon1:c.G80A:p.C27Y CRIPAK:uc003gdf.2:exon1:c.G80A:p.C27Y CRIPAK:NM_175918:exon1:c.G80A:p.C27Y . . 0.38356164 . . @ 84 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.088 . @ . . . . . 1 0.033 . . 219.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C27Y|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -0.9103 -1.085 -0.910 c . . . . . 1.607e-04 . . . 0 0.0002 0 0 0.0008 0.0005 0 0 0 0.0002 0 0 0.0004 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.255 . . exonic exonic exonic . . 0.127 0.1202 . . . 0.22 0.13 182 ENSG00000179979 CRIPAK CRIPAK . . . 0.000 0.069 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.100 . . 0.214 . . . 0.065 0.228 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.468 . . 0.382 . . . . . . 0 0.298 . . . . . 0.131 . 0.284 . HET 0.17 rs56109734 . . . . . . . . . . . . IV.18 . . 0.824 -0.152 . 0.400000 Q8N1N5 . . . . . 0.089 . . . 0 0.0004 4.812e-05 0 0 0.0006 0.0008 0.0006 0 0 0.0009 0 0 0 0.0011 0.0020 0 . . 0.495 . -0.063 -0.063000 . . 0.400000 . . 1.0E-255 0.158 0.235 . 0.074 0.095 . 0.313 . 0.255 -0.063 0.000 . rs56109734 rs56109734 rs56109734 rs56109734 1 1538 10 1/0 0,218,253 +rs74511366 4 1388848 A G - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution synonymous exon GRCh37 1388848 1388848 Chr4(GRCh37):g.1388848A>G 549 549 NM_175918.3:c.549A>G p.Pro183= p.Pro183Pro 1 610203 Post-SET domain rs74511366 yes no Frequency/1000G 2 0.000000 0 0.008986 0.003000 0.014300 0.000000 0.010900 0.023100 0.001250 0.000904 0.003041 0.002685 0.000202 0.000250 0.001282 0.000292 0.003270 0.003041 189 9 50 17 2 5 92 4 10 151170 9960 16440 6332 9886 19988 71786 13720 3058 0.000913 0.000402 0.002311 0.001895 0.000000 0.000100 0.001031 0.000146 0.001962 69 2 19 6 0 1 37 1 3 51 5 12 5 2 3 18 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7704 4351 12055 196 13 209 0.0248101 0.00297892 0.0170417 0.0248101 0.00297892 0.0170417 176 transition A G A>G 0.000 -1.570 P Pro CCA 0.274 P Pro CCG 0.115 183 111 PASS . . . . . 0.003 0.009 0.023 . 0.011 0.014 ENSG00000179979:ENST00000324803:exon1:c.A549G:p.P183P CRIPAK:uc003gdf.2:exon1:c.A549G:p.P183P CRIPAK:NM_175918:exon1:c.A549G:p.P183P . . 1.0 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 5.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P183|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) 0.003 0.017 0.025 0.003 0.017 0.025 . -0.8896 . . . . . . . . . . . . 0.0007 0.0003 0 0 0 0.0004 0 0.0002 0.0002 0.0001 0 0.0001 0 9.311e-05 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0224 . . . 0.17 0.15 182 ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74511366 . . . . . . . . . . . . . . . . . . . . . . . 0.017042 . . . . . 0.0007 0.0012 0.0030 0.0027 0.0001 0.0002 0.0013 0.0034 0.0003 0.0028 0.0017 0.0109 0 0.0029 0.0034 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.025 . . rs74511366 rs74511366 1 1538 255 1.I 0,0,255 +rs148639884 4 1388904 C T - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution missense exon GRCh37 1388904 1388904 Chr4(GRCh37):g.1388904C>T 605 605 NM_175918.3:c.605C>T p.Thr202Met p.Thr202Met 1 610203 Post-SET domain rs148639884 yes no Frequency/1000G 2 0.000000 0 0.013978 0.014400 0.009200 0.001000 0.033800 0.010100 0.000812 0.008386 0.000202 0.000000 0.000000 0.000211 0.000010 0.000052 0.000000 0.008386 188 174 6 0 0 6 1 1 0 231486 20750 29702 8604 18588 28448 100888 19314 5192 0.000199 0.001928 0.000135 0.000000 0.000000 0.000070 0.000000 0.000000 0.000000 23 20 2 0 0 1 0 0 0 142 134 2 0 0 4 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7666 4289 11955 6 51 57 0.000782065 0.0117512 0.00474525 0.000782065 0.0117512 0.00474525 207 COSM1051341 Endometrium 0.001524 656 transition C T C>T 0.087 0.528 T Thr ACG 0.116 M Met ATG 1.000 202 4 2 Chimp -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 215.31 58.08 Tolerated 0.07 III.72 bad 5.516E-4 0.0003878 255 PASS 0.03 0.01 0.01 . 0.01 0.014 0.014 0.01 0.001 0.034 0.0092 ENSG00000179979:ENST00000324803:exon1:c.C605T:p.T202M CRIPAK:uc003gdf.2:exon1:c.C605T:p.T202M CRIPAK:NM_175918:exon1:c.C605T:p.T202M . . 0.875 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.043 . . 8.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T202M|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) 0.012 0.0047 0.0008 0.012 0.0047 0.0008 . -0.8363 -0.989 -0.836 c . . . . . 9.890e-04 . . . 0.0108 0.0014 0 0 0 5.673e-05 0 0.0003 0.0107 0.0011 0 0 0 4.271e-05 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.207 . . exonic exonic exonic . . 0.179 0.0140 . . . 0.19 0.14 182 ENSG00000179979 CRIPAK CRIPAK . . . 0.000 0.053 . 18 0.000277025 64976 0 0 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.020 . . 0.261 . . . 0.065 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.063 . . 0 0 0 0 0 0 . 0.446 . . 0.265 . . . . . . 0 0.419 . . . . . 0.062 . 0.112 . HOM 0 rs148639884 . . . . . . ID\x3dCOSM1051341\x3bOCCURENCE\x3d1(endometrium) 0.010531135531135532 0.028455284552845527 0.0055248618784530384 0.0 0.009234828496042216 III.39 0.012486 ENST00000324803 0.83 0.83 . 0.020000 Q8N1N5 . . . 0.004745 . 0.021 . . . 0.0096 0.0007 0.0002 0 0 0 1.063e-05 0 0.0002 0.0054 0.0020 0.0022 0 0 0.0006 0 0 . . 0.450 . 0.770 0.770000 . . 0.020000 . . 1.0E-255 0.039 0.207 . 0.167 0.013 . 0.212 . 0.012 0.770 -1.906 0.03 . . rs148639884 rs148639884 1 1538 10 1.I 0,0,0 +. 4 1388922 CT C - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 deletion frameshift exon GRCh37 1388923 1388923 Chr4(GRCh37):g.1388923del 624 624 NM_175918.3:c.624del p.Ala209Profs*220 p.Ala209Profs*220 1 610203 Post-SET domain rs553511535 yes no Frequency/1000G 2 0.000000 0 0.022764 0.006100 0.024500 0.003000 0.049700 0.041800 T 255 Pass . . . . . 0.0061 0.023 0.042 0.003 0.05 0.025 ENSG00000179979:ENST00000324803:exon1:c.624delT:p.P208fs CRIPAK:uc003gdf.2:exon1:c.624delT:p.P208fs CRIPAK:NM_175918:exon1:c.624delT:p.P208fs . . 0.73333335 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 15 . . FRAME_SHIFT(HIGH||||CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs553511535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,57,255 +. 4 1388930 T TCA - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 duplication frameshift exon GRCh37 1388935 1388936 Chr4(GRCh37):g.1388934_1388935dup 635 636 NM_175918.3:c.635_636dup p.Val213Thrfs*217 p.Val213Thrfs*217 1 610203 Post-SET domain rs530801181 yes no Frequency/1000G 2 0.025958 CA 130 0.025959 0.009100 0.025600 0.003000 0.058600 0.044700 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000160 1 0 0 0 0 0 1 0 0 15432 5328 406 150 1380 0 6262 1486 420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes COSM4422854|COSM4422854 Pancreas|Kidney 0.007576|0.000572 132|1749 AC 255 Pass . . . . . 0.0091 0.026 0.045 0.003 0.059 0.026 ENSG00000179979:ENST00000324803:exon1:c.631_632insCA:p.S211fs CRIPAK:uc003gdf.2:exon1:c.631_632insCA:p.S211fs CRIPAK:NM_175918:exon1:c.631_632insCA:p.S211fs . . 0.6875 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 16 . . FRAME_SHIFT(HIGH||||CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) 0.0012 0.0043 0.0061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs530801181 . . . . . . . . . . . . . . . . . . . . . . . 0.004282 . . . . . . . . . . . . . . 0 6.48e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0061 . . . . 1 1538 10 1.I 0,11,16 +rs71614969 4 1388974 T C - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution synonymous exon GRCh37 1388974 1388974 Chr4(GRCh37):g.1388974T>C 675 675 NM_175918.3:c.675T>C p.Asp225= p.Asp225Asp 1 610203 rs71614969 yes no Frequency/1000G 2 0.000000 0 0.140974 0.087000 0.203500 0.026800 0.232600 0.188800 0.000500 0.001005 0.000841 0.000870 0.000000 0.000172 0.000536 0.000325 0.000369 0.001005 65 15 13 4 0 3 26 3 1 130046 14922 15458 4600 17212 17394 48520 9228 2712 0.000123 0.000536 0.000129 0.000435 0.000000 0.000000 0.000082 0.000000 0.000000 8 4 1 1 0 0 2 0 0 49 7 11 2 0 3 22 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1567005|COSM1567005|COSM1567005|COSM1567005 Upper aerodigestive tract|Thyroid|Large intestine|Haematopoietic and lymphoid tissue 0.000803|0.001339|0.001345|0.000567 1246|747|2231|3530 transition T C T>C 0.000 -0.844 D Asp GAT 0.461 D Asp GAC 0.539 225 255 PASS . . . . . 0.087 0.14 0.19 0.027 0.23 0.2 ENSG00000179979:ENST00000324803:exon1:c.T675C:p.D225D CRIPAK:uc003gdf.2:exon1:c.T675C:p.D225D CRIPAK:NM_175918:exon1:c.T675C:p.D225D . . 0.7171717 . . @ 71 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 99.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D225|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -0.4807 . . . . . . . . . . . . 0 7.862e-05 0.0004 0 0 7.346e-05 0 0 0 9.063e-05 0.0004 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1410 . . . 0.18 0.13 182 ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs71614969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0005 0.0009 0.0009 0 0.0002 0.0006 0.0004 0.0002 0.0002 0.0002 0 0 0 0.0011 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71614969 rs71614969 rs71614969 1 1538 10 1/0 0,255,255 +rs527798572 4 1389034 C G - CRIPAK 26619 Cysteine-rich PAK1 inhibitor NM_175918.3 1 4443 1341 NP_787114.2 Q8N1N5 substitution synonymous exon GRCh37 1389034 1389034 Chr4(GRCh37):g.1389034C>G 735 735 NM_175918.3:c.735C>G p.Pro245= p.Pro245Pro 1 610203 Post-SET domain rs527798572 yes no Frequency/1000G 2 C 0.000000 0 0.026557 0.070300 0.017400 0.000000 0.011900 0.015900 0.002180 0.024166 0.001692 0.000000 0.000164 0.000034 0.000223 0.000720 0.001250 0.024166 538 432 54 0 3 1 25 16 7 246836 17876 31920 9566 18242 29364 112038 22228 5602 0.000178 0.002126 0.000063 0.000000 0.000000 0.000000 0.000018 0.000000 0.000357 22 19 1 0 0 0 1 0 1 492 392 52 0 3 1 23 16 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3011017 Large intestine 0.000448 2231 transversion C G C>G 0.000 -1.086 P Pro CCC 0.328 P Pro CCG 0.115 245 197 PASS . . . . . 0.07 0.027 0.016 . 0.012 0.017 ENSG00000179979:ENST00000324803:exon1:c.C735G:p.P245P CRIPAK:uc003gdf.2:exon1:c.C735G:p.P245P CRIPAK:NM_175918:exon1:c.C735G:p.P245P . . 0.152 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 125.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccG|P245|CRIPAK|mRNA|CODING|NM_175918|NM_175918.ex.1) . . . . . . . -0.5714 . . . . . . . . . . . . 0.0087 0.0011 0.0006 0 0 0.0002 0.0018 0.0001 0.0065 0.0007 0.0006 0 0.0008 0.0002 0.0036 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0266 . . . 0.19 0.11 182 ENSG00000179979 CRIPAK CRIPAK . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs527798572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0286 0.0021 0.0017 0 0.0002 0.0007 0.0002 0.0014 3.406e-05 0.0099 0.0031 0.0022 0 0 0.0006 0.0004 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +rs550408174 4 1821282 T C - LETM1 6556 Leucine zipper-EF-hand containing transmembrane protein 1 NM_012318.2 -1 5462 2220 NP_036450.1 O95202 substitution intron GRCh37 1821282 1821282 Chr4(GRCh37):g.1821282T>C 1609-83 1609-83 NM_012318.2:c.1609-83A>G p.? p.? 11 10 604407 -83 3' 93.0904 7.65208 0.968369 11.936 93.0904 7.65208 0.968369 11.936 0 Cryptic Acceptor Strongly Activated 1821274 3.32809 0.000693 70.0702 III.51 0.001822 70.0847 rs550408174 yes no Frequency 1 T 0.000000 0 0.000258 0.000115 0.000000 0.000000 0.000000 0.000000 0.000466 0.000000 0.000000 0.000466 8 1 0 0 0 0 7 0 0 30982 8732 838 302 1620 0 15014 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . INTRON(MODIFIER||||LETM1|mRNA|CODING|NM_012318|) . . . . . . . -0.2883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000168924 LETM1 LETM1 . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550408174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201275498 4 1825533 C A - LETM1 6556 Leucine zipper-EF-hand containing transmembrane protein 1 NM_012318.2 -1 5462 2220 NP_036450.1 O95202 substitution intron GRCh37 1825533 1825533 Chr4(GRCh37):g.1825533C>A 1201-31 1201-31 NM_012318.2:c.1201-31G>T p.? p.? 8 7 604407 -31 3' 75.5601 4.17194 0.1068 7.71782 75.5601 4.17194 0.1068 7.95593 0 rs201275498 yes no Frequency 1 C 0.000000 0 0.000207 0.000042 0.000122 0.000000 0.000000 0.000000 0.000357 0.000129 0.000513 0.000357 52 1 4 0 0 0 41 3 3 251374 23648 32698 7616 18746 24704 114792 23320 5850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 52 1 4 0 0 0 41 3 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 56 transversion G T G>T 0.488 3.837 255 PASS . . . . . . . . . . . . . . . . 0.48412699 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . INTRON(MODIFIER||||LETM1|mRNA|CODING|NM_012318|) . 0.0002 0.0003 . 0.0002 0.0003 . 0.4743 . . . . . . . . 2.292e-04 . . . 0.0001 0.0002 8.878e-05 0 0.0003 0.0004 0 0 0.0001 0.0002 9.139e-05 0 0.0002 0.0004 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.2 182 ENSG00000168924 LETM1 LETM1 . . . . . . 12 0.000184684 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201275498 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . III.98 6.692e-05 0.0002 0.0001 0 0 0.0002 0.0004 0.0006 0 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs201275498 rs201275498 1 1538 10 1/0 0,249,255 +rs3135152 4 2461888 A G - CFAP99 51180 Cilia and flagella associated protein 99 NM_001193282.2 1 2144 1941 NP_001180211.2 substitution missense exon GRCh37 2461888 2461888 Chr4(GRCh37):g.2461888A>G 1580 1580 NM_001193282.2:c.1580A>G p.His527Arg p.His527Arg 14 -82 5' 76.9891 6.35803 0.720853 7.51754 76.9891 6.35803 0.720853 7.51754 0 rs3135152 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.999800 1.000000 1.000000 1.000000 0.999000 1.000000 0.999963 1.000000 1.000000 1.000000 1.000000 0.999911 0.999954 0.999887 1.000000 1.000000 160730 14920 24590 8358 11536 22552 65357 8813 4604 160736 14920 24590 8358 11536 22554 65360 8814 4604 0.999925 1.000000 1.000000 1.000000 1.000000 0.999823 0.999908 0.999773 1.000000 80362 7460 12295 4179 5768 11275 32677 4406 2302 6 0 0 0 0 2 3 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.961 1.981 H His CAC 0.587 R Arg CGC 0.190 527 11 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 98.78 0.00 Tolerated 1 III.33 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. ENSG00000249428:ENST00000506607:exon7:c.A815G:p.H272R LOC402160:uc021xkr.1:exon14:c.A1580G:p.H527R CFAP99:NM_001193282:exon14:c.A1580G:p.H527R . . 1.0 . . @ 134 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.067 . . 134.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H527R|CFAP99|mRNA|CODING|NM_001193282|NM_001193282.ex.14) . . . . . . . -0.4304 -0.369 -0.430 c . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.421 0.0002 . . . 0.5 0.43 182 ENSG00000249428 LOC402160 CFAP99 . . . 1.000 0.747 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.425 . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.039 . . . . . 0.148 . 0.044 . HOM . rs3135152 1.000 1.000 . . . . . 0.9995421245421245 1.0 1.0 1.0 0.9986807387862797 V.97 . ENST00000506607 4.VI III.75 . 0.780000 . . . . . . 0.189 . . III.75 1 1.0000 1 1 1 0.9998 1.0000 1 0.9999 1 1.0000 1 1 1 1 0.9999 1 . . 0.199 . 1.310 1.310000 . . 0.780000 . . 1.0E-111 0.998 0.411 . 0.205 0.014 . 0.525 . 0.222 1.310 -0.362 1. rs3135152 rs3135152 rs3135152 rs3135152 1 1538 255 1.I 0,0,255 +rs79252276 4 2967133 G A - GRK4 4543 G protein-coupled receptor kinase 4 NM_182982.2 1 2314 1737 NP_892027.2 P32298 substitution intron GRCh37 2967133 2967133 Chr4(GRCh37):g.2967133G>A 52+1284 52+1284 NM_182982.2:c.52+1284G>A p.? p.? 1 1 137026 1284 5' 85.2503 8.22968 0.945448 12.054 85.2503 8.22968 0.945448 12.054 0 rs79252276 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000000 0.007200 0.000000 0.014900 0.002900 0.007253 0.001809 0.002318 0.005622 0.000173 0.008735 0.010536 0.012156 0.008696 0.012156 1166 27 57 47 2 197 689 107 40 160764 14928 24590 8360 11538 22554 65392 8802 4600 0.000050 0.000000 0.000000 0.000000 0.000000 0.000177 0.000061 0.000000 0.000000 4 0 0 0 0 2 2 0 0 1158 27 57 47 2 193 685 107 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -3.346 255 PASS . 0.01 0.0028 . 0.02 . 0.0048 0.0029 . 0.015 0.0072 ENSG00000125388:ENST00000442472:exon2:c.G304A:p.G102S GRK4:uc003ggm.3:exon2:c.G304A:p.G102S . . . 0.5037594 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -1.9738 . . . . . . . . 6.597e-03 . . . 0 0.0088 0 0 0 0.0113 0.0227 0.0083 0 0.0080 0 0 0 0.0081 0.0254 0.0083 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . 0.0048 . . . 0.24 0.34 182 ENSG00000125388 GRK4 GRK4 . . . . . . 609 0.00937269 64976 585 0.00975228 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79252276 0.011 0.007 . . . . . 0.00641025641025641 0.0 0.0027624309392265192 0.0 0.017150395778364115 I.55 . ENST00000442472 0.767 -1.53 . 0.000000 B4DEC9 . . . . . . . . . 0.0011 0.0071 0.0024 0.0057 0.0002 0.0113 0.0104 0.0086 0.0087 0.0023 0.0078 0.0012 0.0033 0 0.0135 0.0109 0.0092 . . . . -3.521 -3.521000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -3.521 . 0.02 . . rs79252276 rs79252276 1 1538 10 1/0 0,247,255 +rs79252276 4 2967133 G A - NOP14 16821 NOP14 nucleolar protein NM_001291978.1 -1 3656 2574 NP_001278907.1 P78316 substitution upstream GRCh37 2967133 2967133 Chr4(GRCh37):g.2967133G>A -2087 -2087 NM_001291978.1:c.-2087C>T p.? p.? 1 611526 -2282 5' 93.9148 X.81 0.992671 15.8571 93.9148 X.81 0.992671 15.8571 0 rs79252276 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000000 0.007200 0.000000 0.014900 0.002900 0.007253 0.001809 0.002318 0.005622 0.000173 0.008735 0.010536 0.012156 0.008696 0.012156 1166 27 57 47 2 197 689 107 40 160764 14928 24590 8360 11538 22554 65392 8802 4600 0.000050 0.000000 0.000000 0.000000 0.000000 0.000177 0.000061 0.000000 0.000000 4 0 0 0 0 2 2 0 0 1158 27 57 47 2 193 685 107 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -3.346 255 PASS . 0.01 0.0028 . 0.02 . 0.0048 0.0029 . 0.015 0.0072 ENSG00000125388:ENST00000442472:exon2:c.G304A:p.G102S GRK4:uc003ggm.3:exon2:c.G304A:p.G102S . . . 0.5037594 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -1.9738 . . . . . . . . 6.597e-03 . . . 0 0.0088 0 0 0 0.0113 0.0227 0.0083 0 0.0080 0 0 0 0.0081 0.0254 0.0083 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . 0.0048 . . . 0.24 0.34 182 ENSG00000125388 GRK4 GRK4 . . . . . . 609 0.00937269 64976 585 0.00975228 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79252276 0.011 0.007 . . . . . 0.00641025641025641 0.0 0.0027624309392265192 0.0 0.017150395778364115 I.55 . ENST00000442472 0.767 -1.53 . 0.000000 B4DEC9 . . . . . . . . . 0.0011 0.0071 0.0024 0.0057 0.0002 0.0113 0.0104 0.0086 0.0087 0.0023 0.0078 0.0012 0.0033 0 0.0135 0.0109 0.0092 . . . . -3.521 -3.521000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -3.521 . 0.02 . . rs79252276 rs79252276 1 1538 10 1/0 0,247,255 +rs41264739 4 3222082 C T - HTT 4851 Huntingtin NM_002111.6 1 13481 9435 NP_002102.4 substitution intron NG_009378.1 150681 150681 NG_009378.1:g.150681C>T 7375+47 7375+47 NM_002111.6:c.7375+47C>T p.? p.? 53 53 613004 47 5' 66.9153 4.67527 0.731219 0.63498 66.9153 4.67527 0.731219 0.612309 0 rs41264739 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.003100 0.000000 0.009900 0.000000 0.007576 0.001253 0.002736 0.005236 0.000106 0.005566 0.010978 0.011966 0.007991 0.011966 2071 30 93 51 2 167 1371 306 51 273352 23952 33990 9740 18822 30006 124888 25572 6382 0.000080 0.000000 0.000000 0.000000 0.000000 0.000067 0.000160 0.000000 0.000000 11 0 0 0 0 1 10 0 0 2049 30 93 51 2 165 1351 306 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8118 3691 11809 68 5 73 0.00830687 0.00135281 0.00614375 0.00830687 0.00135281 0.00614375 48 transition C T C>T 0.000 255 PASS . 0.0037 . . 0.01 . 0.0026 . . 0.0099 0.0031 . . . . . 0.43396226 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||HTT|mRNA|CODING|NM_002111|) 0.0014 0.0061 0.0083 0.0014 0.0061 0.0083 . -0.2808 . . . . . . . . 8.328e-03 . . . 0.0011 0.0055 0.0013 0 0.0087 0.0080 0.0086 0.0057 0.0009 0.0086 0.0013 0 0.0101 0.0132 0.0059 0.0056 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.42 0.09 182 ENSG00000197386 HTT HTT . . . . . . 492 0.00757203 64976 479 0.0079852 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41264739 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006144 . . . . . 0.0008 0.0076 0.0028 0.0051 0.0001 0.0118 0.0112 0.0074 0.0056 0.0021 0.0070 0.0012 0.0099 0 0.0129 0.0093 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs41264739 rs41264739 rs41264739 rs41264739 1 1538 10 1/0 0,255,255 +rs201369188 4 3417855 G T - RGS12 9994 Regulator of G-protein signaling 12 NM_198229.2 1 5477 4344 NP_937872.1 O14924 substitution intron GRCh37 3417855 3417855 Chr4(GRCh37):g.3417855G>T 2427+7 2427+7 NM_198229.2:c.2427+7G>T p.? p.? 7 7 602512 7 5' 81.5254 8.66175 0.933816 XI.47 81.5254 8.66175 0.903111 10.0449 -0.0109604 rs201369188 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002307 0.000918 0.000814 0.003655 0.000000 0.000000 0.004160 0.000427 0.002331 0.004160 637 22 28 37 0 0 524 11 15 276156 23954 34394 10124 18846 30684 125962 25756 6436 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 635 22 28 37 0 0 522 11 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4401 12962 37 5 42 0.00430333 0.00113482 0.00322978 0.00430333 0.00113482 0.00322978 40 transversion G T G>T 0.000 -0.602 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.5588235 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . 0.0011 0.0032 0.0043 0.0011 0.0032 0.0043 . 0.0709 . . . . . . . . 2.219e-03 . . . 0.0007 0.0021 0.0006 0 0.0008 0.0040 0.0015 0 0.0006 0.0020 0.0005 0 0.0009 0.0035 0.0015 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.25 0.2 182 ENSG00000159788 RGS12 RGS12 . . . . . . 206 0.0031704 64976 203 0.00338412 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201369188 . . . . . . . . . . . . . . . . . . . . 0.0001 0.004 . 0.003230 . . . . . 0.0008 0.0023 0.0008 0.0037 0 0.0004 0.0042 0.0027 0 0.0011 0.0025 0.0012 0.0033 0 0.0003 0.0042 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0043 . . rs201369188 rs201369188 1 1538 10 1/0 0,255,255 +rs767608503 4 9213473 G C - USP17L10 44438 Ubiquitin specific peptidase 17-like family member 10 NM_001256852.1 1 1593 1593 NP_001243781.1 C9JJH3 substitution missense exon GRCh37 9213473 9213473 Chr4(GRCh37):g.9213473G>C 1091 1091 NM_001256852.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 rs767608503 yes no Frequency 1 G 0.000000 0 0.009091 0.312500 0.002054 0.010000 0.002350 0.000928 0.003928 0.000519 0.001799 0.312500 210 150 12 9 4 4 29 1 1 23100 480 5842 900 1702 4310 7382 1928 556 0.257143 0.313333 0.083333 0.000000 0.250000 0.000000 0.172414 0.000000 0.000000 54 47 1 0 1 0 5 0 0 101 56 9 9 2 4 19 1 1 0 0 0 0 0 0 0 0 0 PASS 104 Exomes transversion G C G>C 0.992 -0.037 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.57 227 PASS . . . . . . . . . . . ENSG00000231396:ENST00000417945:exon1:c.G1091C:p.S364T USP17L10:uc031sdg.1:exon1:c.G1091C:p.S364T USP17L10:NM_001256852:exon1:c.G1091C:p.S364T . . 0.375 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.483 . @ . . . . . 1 0.287 . . 32.0 . . . . . . . . . . -0.5361 -0.697 -0.536 c . . . . . 8.796e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.151 @ . . . . . . ENSG00000231396 USP17L10 USP17L10 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . T 0.126 0.005 . . 37 . 0.262 . . 0.142 . . . 0.484 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.454 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.342 . . . . . . . 0.111 . HET 0.07 rs767608503 . . . . . . . . . . . . . . ENST00000417945 0.337 0.337 . . . . . . . . 0.197 . . . 0.3125 0.0091 0.0021 0.01 0.0024 0.0005 0.0039 0.0018 0.0009 . . . . . . . . . . 0.246 . 0.444 0.444000 . . . . . 1.0000000000000001E-227 0.048 0.211 . 0.223 0.365 . 0.134 . 0.036 0.444 0.562 . . . . . 1 1538 10 1/0 0,255,255 +rs751973577 4 9213672 G C - USP17L10 44438 Ubiquitin specific peptidase 17-like family member 10 NM_001256852.1 1 1593 1593 NP_001243781.1 C9JJH3 substitution missense exon GRCh37 9213672 9213672 Chr4(GRCh37):g.9213672G>C 1290 1290 NM_001256852.1:c.1290G>C p.Gln430His p.Gln430His 1 rs751973577 yes no Frequency 1 G 0.000000 0 0.000896 0.040000 0.000380 0.000000 0.000000 0.000000 0.000124 0.000000 0.001059 0.040000 36 30 3 0 0 0 2 0 1 40164 750 7886 1410 2304 6962 16094 3814 944 0.000398 0.018667 0.000254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 7 1 0 0 0 0 0 0 20 16 1 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 -0.521 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.90 247 PASS . . . . . . . . . . . ENSG00000231396:ENST00000417945:exon1:c.G1290C:p.Q430H USP17L10:uc031sdg.1:exon1:c.G1290C:p.Q430H USP17L10:NM_001256852:exon1:c.G1290C:p.Q430H . . 0.3125 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.115 . @ . . . . . 1 0.341 . . 16.0 . . . . . . . . . . -0.7138 -0.922 -0.714 c . . . . . 7.548e-04 . . . 0.0303 0.0006 0 0 0 0.0007 0 0 0.0417 0.0005 0 0 0 0.0005 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.107 @ . . . . . . ENSG00000231396 USP17L10 USP17L10 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.346 . . 0.308 . . . 0.331 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.496 . . . . . . . 0.121 . HET 0.27 rs751973577 . . . . . . . . . . . . . . ENST00000417945 0.337 -0.674 . . . . . . . . 0.036 . . . 0.0638 0.0010 0.0004 0 0 0 0.0001 0.0013 0 0 0 0 0 0 0 0 0 . . 0.246 . -0.463 -0.463000 . . . . . 1.0E-247 0.809 0.296 . 0.043 0.736 . 0.113 . 0.014 -0.463 -0.219 . . . . . 1 1538 10 1/0 0,255,255 +. 4 9217289 T C - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution synonymous exon GRCh37 9217289 9217289 Chr4(GRCh37):g.9217289T>C 159 159 NM_001256854.1:c.159T>C p.Asp53= p.Asp53Asp 1 0.000389 0.000000 0.000000 0.000000 0.000000 0.000911 0.000643 0.000000 0.000000 0.000911 2 0 0 0 0 1 1 0 0 5140 368 1320 60 428 1098 1556 130 180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 75 Exomes transition T C T>C 0.929 0.528 D Asp GAT 0.461 D Asp GAC 0.539 53 192 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.T159C:p.D53D USP17L11:uc031sdh.1:exon1:c.T159C:p.D53D . . . 0.14012739 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 471.0 . . . . . . . . . . 0.0500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000233136 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0 0.0006 0 0.0009 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +. 4 9217574 A T - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution synonymous exon GRCh37 9217574 9217574 Chr4(GRCh37):g.9217574A>T 444 444 NM_001256854.1:c.444A>T p.Ala148= p.Ala148Ala 1 0.005226 0.000000 0.008333 0.000000 0.000000 0.013889 0.000000 0.000000 0.041667 0.013889 3 0 1 0 0 1 0 0 1 574 10 120 2 24 72 304 18 24 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.929 0.044 A Ala GCA 0.226 A Ala GCT 0.263 148 175 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.A444T:p.A148A USP17L11:uc031sdh.1:exon1:c.A444T:p.A148A . . . 0.10333333 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 300.0 . . . . . . . . . . -0.0622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000233136 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0052 0.0083 0 0 0 0 0.0417 0.0139 . 0 . . . 0 . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,179,255 +. 4 9217678 T C - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution missense exon GRCh37 9217678 9217678 Chr4(GRCh37):g.9217678T>C 548 548 NM_001256854.1:c.548T>C p.Val183Ala p.Val183Ala 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 462 10 82 2 8 70 270 4 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 136 Exomes transition T C T>C 0.961 1.174 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 283.42 0.00 Tolerated 0.51 II.60 186 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.T548C:p.V183A USP17L11:uc031sdh.1:exon1:c.T548C:p.V183A . . . 0.124579124 . . @ 74 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.026 . . 594.0 . . . . . . . . . . -0.7957 -0.933 -0.796 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . . @ . . . . . . ENSG00000233136 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . D 0.973 0.672 . . 37 . 0.169 . . 0.193 . . . 0.233 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.010 . . . . . . . 0.152 . LowAF 0.35 . . . . . . . . . . . . . . . ENST00000457736 . . . 1.000000 . . . . . . 0.262 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . 0.093 0.093000 . . 1.000000 . . 1.0E-186 0.920 0.317 . 0.095 0.004 . 0.511 . 0.270 0.093 0.609 . . . . . 1 1538 10 1/0 0,151,250 +. 4 9218075 C T - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution synonymous exon GRCh37 9218075 9218075 Chr4(GRCh37):g.9218075C>T 945 945 NM_001256854.1:c.945C>T p.Leu315= p.Leu315Leu 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.008 -1.247 L Leu CTC 0.197 L Leu CTT 0.129 315 245 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.C945T:p.L315L USP17L11:uc031sdh.1:exon1:c.C945T:p.L315L . . . 0.29310346 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.8052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000233136 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9218420 G C - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution missense exon GRCh37 9218420 9218420 Chr4(GRCh37):g.9218420G>C 1290 1290 NM_001256854.1:c.1290G>C p.Gln430His p.Gln430His 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.858 0.125 Q Gln CAG 0.744 H His CAC 0.587 430 16 8 Fruitfly 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.02 II.88 254 PASS . . . . . . . . . . . ENSG00000233136:ENST00000457736:exon1:c.G1290C:p.Q430H USP17L11:uc031sdh.1:exon1:c.G1290C:p.Q430H . . . 0.31631204 . . @ 223 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.107 . @ . . . . . 1 0.289 . . 705.0 . . . . . . . . . . -0.6934 -0.882 -0.693 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . . @ . . . 0.37 0.21 182 ENSG00000233136 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.963 0.581 . . 37 . 0.349 . . 0.313 . . . 0.331 0.504 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.019 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.486 . . . . . . . 0.160 . HET 0.27 . . . . . . . . . . . . . . . ENST00000457736 . . . 0.480000 . . . . . . 0.077 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.107 0.107000 . . 0.480000 . . 1.0000000000000001E-254 0.431 0.262 . 0.157 0.736 . 0.061 . 0.030 0.107 -0.219 . . . . . 1 1538 10 1/0 0,162,218 +. 4 9219022 T C - USP17L11 44439 Ubiquitin specific peptidase 17-like family member 11 NM_001256854.1 1 1593 1593 NP_001243783.1 C9JVI0 substitution downstream GRCh37 9219022 9219022 Chr4(GRCh37):g.9219022T>C *299 *299 NM_001256854.1:c.*299T>C p.? p.? 1 transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.39130434 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . . . . . . . . . -0.4203 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream downstream . . . @ . . . . . . ENSG00000232399 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9221944 T C - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9221944 9221944 Chr4(GRCh37):g.9221944T>C 67 67 NM_001256853.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 2 0 2 4 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.748 0.851 S Ser TCT 0.185 P Pro CCT 0.283 23 16 6 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.2 II.60 255 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.T67C:p.S23P USP17L12:uc031sdi.1:exon1:c.T67C:p.S23P . . . 0.33333334 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.146 . @ . . . . . 1 0.120 . . 63.0 . . . . . . . . . . -0.8260 -1.024 -0.826 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.154 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . D 0.911 0.309 . . 37 . 0.132 . . 0.259 . . . 0.510 0.481 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.147 . . . . . . . 0.285 . HET 0.27 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.280000 . . . . . . 0.055 . . . . 0 0 . 0 . . . 0 . . . . . . . . . . 0.246 . 0.115 0.115000 . . 0.280000 . . 1.0E-255 0.004 0.165 . 0.137 . . 0.209 . 0.269 0.115 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9221952 C A - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9221952 9221952 Chr4(GRCh37):g.9221952C>A 75 75 NM_001256853.1:c.75C>A p.Pro25= p.Pro25Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 4 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.441 -1.651 P Pro CCC 0.328 P Pro CCA 0.274 25 224 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C75A:p.P25P USP17L12:uc031sdi.1:exon1:c.C75A:p.P25P . . . 0.22580644 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.7200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . 0 . . . 0 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9222036 T C - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9222036 9222036 Chr4(GRCh37):g.9222036T>C 159 159 NM_001256853.1:c.159T>C p.Asp53= p.Asp53Asp 1 transition T C T>C 0.992 1.658 D Asp GAT 0.461 D Asp GAC 0.539 53 196 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.T159C:p.D53D USP17L12:uc031sdi.1:exon1:c.T159C:p.D53D . . . 0.1521739 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.1273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9222162 G A - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9222162 9222162 Chr4(GRCh37):g.9222162G>A 285 285 NM_001256853.1:c.285G>A p.Leu95= p.Leu95Leu 1 transition G A G>A 0.992 0.044 L Leu TTG 0.127 L Leu TTA 0.073 95 196 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.G285A:p.L95L USP17L12:uc031sdi.1:exon1:c.G285A:p.L95L . . . 0.14893617 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . -0.0567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +. 4 9222258 G T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9222258 9222258 Chr4(GRCh37):g.9222258G>T 381 381 NM_001256853.1:c.381G>T p.Thr127= p.Thr127Thr 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G T G>T 0.992 -1.328 T Thr ACG 0.116 T Thr ACT 0.243 127 186 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.G381T:p.T127T USP17L12:uc031sdi.1:exon1:c.G381T:p.T127T . . . 0.12612613 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . -0.5720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,194,255 +. 4 9222314 C A - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution stop gain exon GRCh37 9222314 9222314 Chr4(GRCh37):g.9222314C>A 437 437 NM_001256853.1:c.437C>A p.Ser146* p.Ser146* 1 transversion C A C>A 0.937 0.044 S Ser TCA 0.148 * * TAA 0.277 146 177 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C437A:p.S146X USP17L12:uc031sdi.1:exon1:c.C437A:p.S146X . . . 0.105960265 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.941 . @ . . . . . 0 0.299 . . 302.0 . . . . . . . . . . -0.1032 -0.573 -0.103 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.071 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF 0.09 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.110000 . . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.132 0.132000 . . 0.110000 . . 1.0E-177 0.013 0.187 . 0.226 0.008 . 0.262 . 0.268 0.132 -0.269 . . . . . 1 1538 10 1/0 0,179,255 +. 4 9222321 A T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution synonymous exon GRCh37 9222321 9222321 Chr4(GRCh37):g.9222321A>T 444 444 NM_001256853.1:c.444A>T p.Ala148= p.Ala148Ala 1 transversion A T A>T 0.906 -0.198 A Ala GCA 0.226 A Ala GCT 0.263 148 177 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.A444T:p.A148A USP17L12:uc031sdi.1:exon1:c.A444T:p.A148A . . . 0.10638298 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 282.0 . . . . . . . . . . -0.3144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,255 +. 4 9222806 C T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9222806 9222806 Chr4(GRCh37):g.9222806C>T 929 929 NM_001256853.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 transition C T C>T 0.535 -1.167 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.23 II.53 206 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C929T:p.P310L USP17L12:uc031sdi.1:exon1:c.C929T:p.P310L . . . 0.17582418 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.220 . @ . . . . . 1 0.072 . . 91.0 . . . . . . . . . . -1.1976 -1.445 -1.198 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.969 0.632 . . 37 . 0.083 . . 0.357 . . . 0.399 0.290 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.365 . . . . . . . 0.121 . HET 0.15 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.110000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.589 -1.589000 . . 0.110000 . . 1.0E-206 0.000 0.063 . 0.265 0.003 . 0.081 . 0.043 -1.589 -2.530 . . . . . 1 1538 10 1/0 0,237,255 +. 4 9222956 C T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9222956 9222956 Chr4(GRCh37):g.9222956C>T 1079 1079 NM_001256853.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 transition C T C>T 0.945 0.125 T Thr ACT 0.243 I Ile ATT 0.356 360 16 8 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.51 II.54 189 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C1079T:p.T360I USP17L12:uc031sdi.1:exon1:c.C1079T:p.T360I . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.102 . . 129.0 . . . . . . . . . . -0.4960 -0.710 -0.496 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.913 0.315 . . 37 . 0.339 . . 0.220 . . . 0.569 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.427 . . . . . . . 0.202 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.060000 . . . . . . 0.131 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.132 0.132000 . . 0.060000 . . 1.0E-189 0.000 0.063 . 0.120 0.014 . 0.177 . 0.268 0.132 -0.632 . . . . . 1 1538 10 1/0 0,218,255 +. 4 9222968 G C - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9222968 9222968 Chr4(GRCh37):g.9222968G>C 1091 1091 NM_001256853.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 transversion G C G>C 0.992 0.125 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 163 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.G1091C:p.S364T USP17L12:uc031sdi.1:exon1:c.G1091C:p.S364T . . . 0.26086956 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.315 . @ . . . . . 1 0.164 . . 115.0 . . . . . . . . . . -0.5517 -0.735 -0.552 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.956 0.531 . . 37 . 0.290 . . 0.301 . . . 0.419 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.339 . . . . . . . 0.188 . HET 0.07 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.030000 . . . . . . 0.179 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.132 0.132000 . . 0.030000 . . 1.0E-163 0.003 0.159 . 0.163 0.353 . 0.072 . 0.040 0.132 0.562 . . . . . 1 1538 10 1/0 0,241,255 +. 4 9223111 C T - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9223111 9223111 Chr4(GRCh37):g.9223111C>T 1234 1234 NM_001256853.1:c.1234C>T p.His412Tyr p.His412Tyr 1 transition C T C>T 0.173 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 2 Macaque 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.12 II.86 147 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.C1234T:p.H412Y USP17L12:uc031sdi.1:exon1:c.C1234T:p.H412Y . . . 0.14545454 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.164 . @ . . . . . 1 0.313 . . 110.0 . . . . . . . . . . -0.9022 -1.079 -0.902 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.985 0.804 . . 37 . 0.248 . . 0.247 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.395 . . . . . . . 0.155 . LowAF 0.15 . . . . . . . . . . . . . . . ENST00000415041 . . . 0.080000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.088 0.088000 . . 0.080000 . . 1.0E-147 0.022 0.197 . 0.145 0.113 . 0.140 . 0.163 0.088 0.057 . . . . . 1 1538 10 1/0 0,229,255 +. 4 9223167 G C - USP17L12 44440 Ubiquitin specific peptidase 17-like family member 12 NM_001256853.1 1 1593 1593 NP_001243782.1 C9JPN9 substitution missense exon GRCh37 9223167 9223167 Chr4(GRCh37):g.9223167G>C 1290 1290 NM_001256853.1:c.1290G>C p.Gln430His p.Gln430His 1 transversion G C G>C 0.122 0.125 Q Gln CAG 0.744 H His CAC 0.587 430 16 6 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.86 226 PASS . . . . . . . . . . . ENSG00000227551:ENST00000415041:exon1:c.G1290C:p.Q430H USP17L12:uc031sdi.1:exon1:c.G1290C:p.Q430H . . . 0.22916667 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.140 . @ . . . . . 1 0.426 . . 192.0 . . . . . . . . . . -0.7381 -0.943 -0.738 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.135 @ . . . . . . ENSG00000227551 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.948 0.479 . . 37 . 0.357 . . 0.321 . . . 0.331 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.014 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.496 . . . . . . . 0.255 . HET 0.27 . . . . . . . . . . . . . . . ENST00000415041 0.0465 0.0465 . 0.430000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.132 0.132000 . . 0.430000 . . 1.0000000000000001E-226 0.286 0.250 . 0.154 0.736 . 0.080 . 0.030 0.132 -0.219 . . . . . 1 1538 10 1/0 0,209,255 +. 4 9227065 A T - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution synonymous exon GRCh37 9227065 9227065 Chr4(GRCh37):g.9227065A>T 444 444 NM_001256855.1:c.444A>T p.Ala148= p.Ala148Ala 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.874 -0.037 A Ala GCA 0.226 A Ala GCT 0.263 148 189 PASS . . . . . . . . . . . . USP17L13:uc031sdj.1:exon1:c.A444T:p.A148A USP17L13:NM_001256855:exon1:c.A444T:p.A148A . . 0.13170731 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 205.0 . . . . . . . . . . -0.2946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,255 +. 4 9227479 G C - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution synonymous exon GRCh37 9227479 9227479 Chr4(GRCh37):g.9227479G>C 858 858 NM_001256855.1:c.858G>C p.Val286= p.Val286Val 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.976 -0.682 V Val GTG 0.468 V Val GTC 0.240 286 111 PASS . . . . . . . . . . . . USP17L13:uc031sdj.1:exon1:c.G858C:p.V286V USP17L13:NM_001256855:exon1:c.G858C:p.V286V . . 1.0 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs370934988 4 9227656 A G - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution synonymous exon GRCh37 9227656 9227656 Chr4(GRCh37):g.9227656A>G 1035 1035 NM_001256855.1:c.1035A>G p.Gln345= p.Gln345Gln 1 rs370934988 no no 0 0.000000 0 0.003311 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.009804 0.000000 0.009804 1 0 0 0 0 0 0 1 0 302 6 92 0 14 0 78 102 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 -1.086 Q Gln CAA 0.256 Q Gln CAG 0.744 345 111 PASS . . . . . . . . . . . . USP17L13:uc031sdj.1:exon1:c.A1035G:p.Q345Q USP17L13:NM_001256855:exon1:c.A1035G:p.Q345Q . . 1.0 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.3369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs370934988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0033 0 . 0 0.0098 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs370934988 rs370934988 1 1538 255 1.I 0,0,255 +. 4 9227855 C T - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution missense exon GRCh37 9227855 9227855 Chr4(GRCh37):g.9227855C>T 1234 1234 NM_001256855.1:c.1234C>T p.His412Tyr p.His412Tyr 1 0.001367 0.000000 0.000539 0.055556 0.004202 0.000000 0.000000 0.000000 0.000000 0.055556 6 0 1 2 3 0 0 0 0 4390 92 1854 36 714 602 814 136 142 0.000456 0.000000 0.000000 0.000000 0.002801 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 4 0 1 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.205 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 175 PASS . . . . . . . . . . . . USP17L13:uc031sdj.1:exon1:c.C1234T:p.H412Y USP17L13:NM_001256855:exon1:c.C1234T:p.H412Y . . 0.14349777 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.340 . @ . . . . . 1 0.292 . . 223.0 . . . . . . . . . . -0.9152 -1.085 -0.915 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.988 0.842 . . 37 . 0.241 . . 0.185 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.384 . . . . . . . 0.084 . LowAF 0.14 . . . . . . . . . . . . . . . . . . . 0.180000 . . . . . . 0.014 . . . 0 0.0015 0.0006 0.0588 0.0044 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.246 . 0.088 0.088000 . . 0.180000 . . 1.0E-175 0.026 0.200 . 0.146 0.116 . 0.140 . 0.163 0.088 0.057 . . . . . 1 1538 10 1/0 0,196,255 +. 4 9228513 T C - USP17L13 44441 Ubiquitin specific peptidase 17-like family member 13 NM_001256855.1 1 1593 1593 NP_001243784.1 C9JLJ4 substitution downstream GRCh37 9228513 9228513 Chr4(GRCh37):g.9228513T>C *299 *299 NM_001256855.1:c.*299T>C p.? p.? 1 transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5106383 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . DOWNSTREAM(MODIFIER||||USP17L13|mRNA|CODING|NM_001256855|) . . . . . . . -0.4115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000232399 USP17L13 USP17L13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs369610264 (chr4:9231810 A/T) 4 9231810 A T Not on a known gene +rs372974796 (chr4:9232656 G/C) 4 9232656 G C Not on a known gene +. (chr4:9233258 T/C) 4 9233258 T C Not on a known gene +. 4 9236269 T C - USP17L15 44443 Ubiquitin specific peptidase 17-like family member 15 NM_001256894.1 1 1680 1680 NP_001243823.1 substitution synonymous exon GRCh37 9236269 9236269 Chr4(GRCh37):g.9236269T>C 159 159 NM_001256894.1:c.159T>C p.Asp53= p.Asp53Asp 1 -1460 5' 71.5895 3.11989 0.588981 0 71.5895 3.11989 0.588981 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 856 12 344 10 98 206 142 4 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 77 Exomes transition T C T>C 0.646 0.205 D Asp GAT 0.461 D Asp GAC 0.539 53 234 PASS . . . . . . . . . . . ENSG00000223569:ENST00000456464:exon1:c.T159C:p.D53D USP17L15:uc031sdk.1:exon1:c.T159C:p.D53D USP17L15:NM_001256894:exon1:c.T159C:p.D53D . . 0.252149 . . @ 176 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 698.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D53|USP17L15|mRNA|CODING|NM_001256894|NM_001256894.ex.1) . . . . . . . -0.1149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000223569 USP17L15 USP17L15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,158,255 +. 4 9236491 G T - USP17L15 44443 Ubiquitin specific peptidase 17-like family member 15 NM_001256894.1 1 1680 1680 NP_001243823.1 substitution synonymous exon GRCh37 9236491 9236491 Chr4(GRCh37):g.9236491G>T 381 381 NM_001256894.1:c.381G>T p.Thr127= p.Thr127Thr 1 -1238 5' 71.5895 3.11989 0.588981 0 71.5895 3.11989 0.588981 0 0 Cryptic Acceptor Strongly Activated 9236499 1.02634 8.1e-05 60.3759 2.42956 0.000444 65.541 0.003275 0.000000 0.001259 0.000000 0.001965 0.007743 0.003218 0.014286 0.006579 0.014286 18 0 2 0 2 7 5 1 1 5496 142 1588 68 1018 904 1554 70 152 0.055556 0.000000 0.000000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 16 0 2 0 2 7 3 1 1 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transversion G T G>T 0.984 -1.974 T Thr ACG 0.116 T Thr ACT 0.243 127 197 PASS . . . . . . . . . . . ENSG00000223569:ENST00000456464:exon1:c.G381T:p.T127T USP17L15:uc031sdk.1:exon1:c.G381T:p.T127T USP17L15:NM_001256894:exon1:c.G381T:p.T127T . . 0.15037593 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 266.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acT|T127|USP17L15|mRNA|CODING|NM_001256894|NM_001256894.ex.1) . . . . . . . -0.8233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000223569 USP17L15 USP17L15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0033 0.0013 0 0.0020 0.0143 0.0032 0.0066 0.0077 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,188,255 +. 4 9236554 A T - USP17L15 44443 Ubiquitin specific peptidase 17-like family member 15 NM_001256894.1 1 1680 1680 NP_001243823.1 substitution synonymous exon GRCh37 9236554 9236554 Chr4(GRCh37):g.9236554A>T 444 444 NM_001256894.1:c.444A>T p.Ala148= p.Ala148Ala 1 -1175 5' 71.5895 3.11989 0.588981 0 71.5895 3.11989 0.588981 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6790 180 2100 100 1222 1062 1840 100 186 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 63 Exomes transversion A T A>T 0.913 -0.198 A Ala GCA 0.226 A Ala GCT 0.263 148 177 PASS . . . . . . . . . . . ENSG00000223569:ENST00000456464:exon1:c.A444T:p.A148A USP17L15:uc031sdk.1:exon1:c.A444T:p.A148A USP17L15:NM_001256894:exon1:c.A444T:p.A148A . . 0.10576923 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 312.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|A148|USP17L15|mRNA|CODING|NM_001256894|NM_001256894.ex.1) . . . . . . . -0.2563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000223569 USP17L15 USP17L15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,255 +. 4 9237941 G T - USP17L15 44443 Ubiquitin specific peptidase 17-like family member 15 NM_001256894.1 1 1680 1680 NP_001243823.1 substitution intron GRCh37 9237941 9237941 Chr4(GRCh37):g.9237941G>T 1619-58 1619-58 NM_001256894.1:c.1619-58G>T p.? p.? 2 1 -58 3' 78.72 8.0458 0.513923 3.96089 78.72 8.0458 0.513923 3.72182 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 170 10 32 2 12 0 66 38 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 154 Genomes transversion G T G>T 0.102 0.044 187 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||USP17L15|mRNA|CODING|NM_001256894|) . . . . . . . -0.3450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . . . . ENSG00000223569 USP17L15 USP17L15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs191188665 (chr4:9241835 A/G) 4 9241835 A G Not on a known gene +. (chr4:9242747 T/C) 4 9242747 T C Not on a known gene +. 4 9246041 C A - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution stop gain exon GRCh37 9246041 9246041 Chr4(GRCh37):g.9246041C>A 437 437 NM_001256857.1:c.437C>A p.Ser146* p.Ser146* 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1462 838 116 8 54 80 328 14 24 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.622 0.205 S Ser TCA 0.148 * * TAA 0.277 146 176 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.C437A:p.S146X USP17L17:uc031sdl.1:exon1:c.C437A:p.S146X USP17L17:NM_001256857:exon1:c.C437A:p.S146X . . 0.10552764 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.938 . @ . . . . . 0 0.287 . . 199.0 . . . . . . . . . . -0.0493 -0.508 -0.049 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.071 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000511568 0.37 0.37 . 0.130000 . . . . . . 0.011 . . . 0 0 0 0 0 0 0 0 0 0 0 0 . . . 0 . . . 0.246 . 0.450 0.450000 . . 0.130000 . . 1.0E-176 0.001 0.137 . 0.229 0.008 . 0.062 . 0.268 0.450 -0.269 . . . . . 1 1538 10 1/0 0,197,255 +. 4 9246462 G C - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution synonymous exon GRCh37 9246462 9246462 Chr4(GRCh37):g.9246462G>C 858 858 NM_001256857.1:c.858G>C p.Val286= p.Val286Val 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G C G>C 0.480 -1.409 V Val GTG 0.468 V Val GTC 0.240 286 111 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.G858C:p.V286V USP17L17:uc031sdl.1:exon1:c.G858C:p.V286V USP17L17:NM_001256857:exon1:c.G858C:p.V286V . . 1.0 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.7313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 4 9246639 A G - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution synonymous exon GRCh37 9246639 9246639 Chr4(GRCh37):g.9246639A>G 1035 1035 NM_001256857.1:c.1035A>G p.Gln345= p.Gln345Gln 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2716 236 144 24 188 0 1570 442 112 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 1.000 0.528 Q Gln CAA 0.256 Q Gln CAG 0.744 345 111 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.A1035G:p.Q345Q USP17L17:uc031sdl.1:exon1:c.A1035G:p.Q345Q USP17L17:NM_001256857:exon1:c.A1035G:p.Q345Q . . 1.0 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.2976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 4 9246673 G T - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution missense exon GRCh37 9246673 9246673 Chr4(GRCh37):g.9246673G>T 1069 1069 NM_001256857.1:c.1069G>T p.Ala357Ser p.Ala357Ser 1 transversion G T G>T 0.000 -1.005 A Ala GCT 0.263 S Ser TCT 0.185 357 16 1 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 256.10 0.00 Tolerated 0.31 II.53 111 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.G1069T:p.A357S USP17L17:uc031sdl.1:exon1:c.G1069T:p.A357S USP17L17:NM_001256857:exon1:c.G1069T:p.A357S . . 1.0 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.063 . @ . . . . . 1 0.022 . . 21.0 . . . . . . . . . . -1.5118 -1.621 -1.512 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.053 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.990 0.870 . . 37 . 0.020 . . 0.435 . . . 0.096 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.046 . . . . . . . 0.137 . HOM . . . . . . . . . . . . . . . . ENST00000511568 0.37 0.37 . 0.980000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.078 -1.078000 . . 0.980000 . . 1.0E-111 0.001 0.137 . 0.043 0.001 . 0.162 . 0.038 -1.078 -2.440 . . . . . 1 1538 255 1.I 0,0,255 +. 4 9246695 G C - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution missense exon GRCh37 9246695 9246695 Chr4(GRCh37):g.9246695G>C 1091 1091 NM_001256857.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 transversion G C G>C 0.984 0.367 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.4 II.53 201 PASS . . . . . . . . . . . ENSG00000249104:ENST00000511568:exon1:c.G1091C:p.S364T USP17L17:uc031sdl.1:exon1:c.G1091C:p.S364T USP17L17:NM_001256857:exon1:c.G1091C:p.S364T . . 0.37373737 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.476 . @ . . . . . 1 0.260 . . 99.0 . . . . . . . . . . -0.5214 -0.719 -0.521 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.920 0.339 . . 37 . 0.320 . . 0.170 . . . 0.430 0.216 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.454 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.341 . . . . . . . 0.191 . HET . . . . . . . . . . . . . . . . ENST00000511568 0.37 0.37 . 0.050000 . . . . . . 0.191 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.450 0.450000 . . 0.050000 . . 1.0E-201 0.942 0.325 . 0.157 0.355 . 0.047 . 0.040 0.450 0.562 . . . rs62411732 rs62411732 1 1538 10 1/0 0,255,255 +. 4 9247496 T C - USP17L17 44445 Ubiquitin specific peptidase 17-like family member 17 NM_001256857.1 1 1593 1593 NP_001243786.1 D6RBQ6 substitution downstream GRCh37 9247496 9247496 Chr4(GRCh37):g.9247496T>C *299 *299 NM_001256857.1:c.*299T>C p.? p.? 1 transition T C T>C 0.000 0.125 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 28.0 . . . . . . . . . . -0.4184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000249104 USP17L17 USP17L17 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9250903 T C - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution missense exon GRCh37 9250903 9250903 Chr4(GRCh37):g.9250903T>C 548 548 NM_001256859.1:c.548T>C p.Val183Ala p.Val183Ala 1 0.001263 0.002021 0.000647 0.004032 0.003067 0.000497 0.000661 0.000000 0.000000 0.004032 46 15 3 3 14 2 9 0 0 36432 7422 4636 744 4564 4028 13626 480 932 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 15 3 3 14 2 9 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.367 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 283.42 0.00 Tolerated 0.51 II.59 177 PASS . . . . . . . . . . . ENSG00000250844:ENST00000504209:exon1:c.T548C:p.V183A USP17L11:uc011bwp.2:exon1:c.T548C:p.V183A . . . 0.105906315 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.010 . . 491.0 . . . . . . . . . . -1.1878 -1.258 -1.188 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000250844 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.047 0.002 . . 37 . 0.166 . . 0.347 . . . 0.233 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.210 . . 0.236 . . . . . . 1 0.010 . . . . . . . 0.162 . LowAF . . . . . . . . . . . . . . . . ENST00000504209 0.37 0.37 . 1.000000 D6R9N7 . . . . . 0.082 . . . 0.0016 0.0012 0.0007 0.0041 0.0031 0 0.0007 0 0.0005 0.0027 0.0022 0 0 0 0 0 0 . . 0.246 . 0.379 0.379000 . . 1.000000 . . 1.0E-177 0.001 0.137 . 0.083 0.003 . 0.273 . 0.270 0.379 0.615 . . . . . 1 1538 10 1/0 0,158,255 +. 4 9251566 A T - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution missense exon GRCh37 9251566 9251566 Chr4(GRCh37):g.9251566A>T 1211 1211 NM_001256859.1:c.1211A>T p.Lys404Met p.Lys404Met 1 transversion A T A>T 0.000 -1.974 K Lys AAG 0.575 M Met ATG 1.000 404 16 1 -1 -1 -3 0.33 0 11.III 5.VII 119 105 95 C0 353.86 0.00 Tolerated 0.16 II.89 255 PASS . . . . . . . . . . . ENSG00000250844:ENST00000504209:exon1:c.A1211T:p.K404M USP17L11:uc011bwp.2:exon1:c.A1211T:p.K404M . . . 0.8333333 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.098 . @ . . . . . 1 0.019 . . 12.0 . . . . . . . . . . -1.8892 -1.957 -1.889 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.429 . . exonic exonic exonic . . 0.105 @ . . . . . . ENSG00000250844 USP17L11 . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . 0.139 . . 0.141 . . . 0.019 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.163 . . . . . . . 0.196 . HOM . . . . . . . . . . . . . . . . ENST00000504209 0.37 -0.739 . 0.220000 D6R9N7 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.095 -2.095000 . . 0.220000 . . 1.0E-255 0.002 0.151 . 0.146 0.066 . 0.028 . 0.032 -2.095 -2.431 . . . . . 1 1538 10 1/0 0,255,255 +rs748319841 4 9251589 C T - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution missense exon GRCh37 9251589 9251589 Chr4(GRCh37):g.9251589C>T 1234 1234 NM_001256859.1:c.1234C>T p.His412Tyr p.His412Tyr 1 rs748319841 yes no Frequency 1 0.000000 0 0.003844 0.000000 0.001076 0.070312 0.000000 0.000268 0.003761 0.005450 0.000000 0.070312 60 0 4 36 0 1 15 4 0 15610 1050 3716 512 1540 3736 3988 734 334 0.000256 0.000000 0.000000 0.000000 0.000000 0.000000 0.001003 0.000000 0.000000 2 0 0 0 0 0 2 0 0 56 0 4 36 0 1 11 4 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.008 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.22 II.89 195 PASS . . . . . . . . . . . ENSG00000250844:ENST00000504209:exon1:c.C1234T:p.H412Y USP17L11:uc011bwp.2:exon1:c.C1234T:p.H412Y . . . 0.14893617 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.268 . . 47.0 . . . . . . . . . . -0.9797 -1.146 -0.980 c . . . . . 2.203e-03 . . . 0 0.0006 0 0 0 0.0036 0 0 0 0.0005 0 0 0 0.0028 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000250844 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . T 0.068 0.003 . . 37 . 0.313 . . 0.369 . . . 0.065 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.342 . . 0.431 . . . . . . 1 0.390 . . . . . . . 0.129 . LowAF . rs748319841 . . . . . . . . . . . . . . ENST00000504209 . . . 0.030000 D6R9N7 . . . . . 0.014 . . . 0 0.0040 0.0011 0.0709 0 0.0075 0.0039 0 0.0003 0 0 0 0 0 0 0 0 . . 0.246 . 0.088 0.088000 . . 0.030000 . . 9.999999999999999E-196 0.003 0.159 . 0.138 0.082 . 0.198 . 0.163 0.088 0.057 . . . . . 1 1538 10 1/0 0,255,255 +. 4 9252188 G T - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution downstream GRCh37 9252188 9252188 Chr4(GRCh37):g.9252188G>T *240 *240 NM_001256859.1:c.*240G>T p.? p.? 1 transversion G T G>T 0.012 0.367 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . . . . . . . . . -0.3724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000250844 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +rs775345850 4 9252247 T C - USP17L18 44446 Ubiquitin specific peptidase 17-like family member 18 NM_001256859.1 1 1593 1593 NP_001243788.1 D6R9N7 substitution downstream GRCh37 9252247 9252247 Chr4(GRCh37):g.9252247T>C *299 *299 NM_001256859.1:c.*299T>C p.? p.? 1 rs775345850 no no 0 0.000000 0 transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41379312 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 29.0 . . . . . . . . . . -0.4117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000250844 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs775345850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9255262 T C - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution synonymous exon GRCh37 9255262 9255262 Chr4(GRCh37):g.9255262T>C 159 159 NM_001256860.1:c.159T>C p.Asp53= p.Asp53Asp 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1876 148 730 8 190 458 258 4 80 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 147 Exomes transition T C T>C 0.031 0.044 D Asp GAT 0.461 D Asp GAC 0.539 53 198 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.T159C:p.D53D USP17L19:uc031sdm.1:exon1:c.T159C:p.D53D USP17L19:NM_001256860:exon1:c.T159C:p.D53D . . 0.15337424 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 326.0 . . . . . . . . . . -0.0785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000248920 USP17L19 USP17L19 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +. 4 9255547 A T - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution synonymous exon GRCh37 9255547 9255547 Chr4(GRCh37):g.9255547A>T 444 444 NM_001256860.1:c.444A>T p.Ala148= p.Ala148Ala 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 15449 Exomes transversion A T A>T 0.134 -0.279 A Ala GCA 0.226 A Ala GCT 0.263 148 190 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.A444T:p.A148A USP17L19:uc031sdm.1:exon1:c.A444T:p.A148A USP17L19:NM_001256860:exon1:c.A444T:p.A148A . . 0.13580246 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 162.0 . . . . . . . . . . -0.4340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000248920 USP17L19 USP17L19 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +. 4 9255651 T C - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution missense exon GRCh37 9255651 9255651 Chr4(GRCh37):g.9255651T>C 548 548 NM_001256860.1:c.548T>C p.Val183Ala p.Val183Ala 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 0.367 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 283.42 0.00 Tolerated 0.51 II.59 185 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.T548C:p.V183A USP17L19:uc031sdm.1:exon1:c.T548C:p.V183A USP17L19:NM_001256860:exon1:c.T548C:p.V183A . . 0.122486286 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.022 . . 547.0 . . . . . . . . . . -0.7934 -0.927 -0.793 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000248920 USP17L19 USP17L19 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . D 0.964 0.591 . . 37 . 0.174 . . 0.180 . . . 0.233 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.010 . . . . . . . 0.138 . LowAF . . . . . . . . . . . . . . . . ENST00000515566 0.37 0.37 . 1.000000 . . . . . . 0.164 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.379 0.379000 . . 1.000000 . . 1.0E-185 0.009 0.180 . 0.083 0.003 . 0.256 . 0.270 0.379 0.615 . . . . . 1 1538 10 1/0 0,155,255 +. 4 9256194 G C - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution missense exon GRCh37 9256194 9256194 Chr4(GRCh37):g.9256194G>C 1091 1091 NM_001256860.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 transversion G C G>C 0.992 0.205 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.56 255 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.G1091C:p.S364T USP17L19:uc031sdm.1:exon1:c.G1091C:p.S364T USP17L19:NM_001256860:exon1:c.G1091C:p.S364T . . 0.43421054 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.474 . @ . . . . . 1 0.135 . . 76.0 . . . . . . . . . . -0.5402 -0.731 -0.540 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.153 @ . . . 0.37 0.12 182 ENSG00000248920 USP17L19 USP17L19 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.935 0.405 . . 37 . 0.264 . . 0.131 . . . 0.427 0.218 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.339 . . . . . 0.052 . 0.192 . HET . . . . . . . . . . . . . . II.03 . ENST00000515566 0.37 0.37 . 0.050000 . . . . . . 0.188 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.450 0.450000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.163 0.353 . 0.062 . 0.040 0.450 0.562 . . . . . 1 1538 10 1/0 0,255,255 +. 4 9256337 C T - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution missense exon GRCh37 9256337 9256337 Chr4(GRCh37):g.9256337C>T 1234 1234 NM_001256860.1:c.1234C>T p.His412Tyr p.His412Tyr 1 transition C T C>T 0.008 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.22 II.87 198 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.C1234T:p.H412Y USP17L19:uc031sdm.1:exon1:c.C1234T:p.H412Y USP17L19:NM_001256860:exon1:c.C1234T:p.H412Y . . 0.1553398 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.153 . @ . . . . . 1 0.279 . . 103.0 . . . . . . . . . . -0.9576 -1.135 -0.958 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.36 0.1 182 ENSG00000248920 USP17L19 USP17L19 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.990 0.865 . . 37 . 0.232 . . 0.146 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.395 . . . . . . . 0.149 . HET . . . . . . . . . . . . . . . . ENST00000515566 . . . 0.250000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.064 0.064000 . . 0.250000 . . 1.0E-198 0.011 0.184 . 0.146 0.113 . 0.140 . 0.163 0.064 0.057 . . . . . 1 1538 10 1/0 0,229,255 +. 4 9256393 G C - USP17L19 44447 Ubiquitin specific peptidase 17-like family member 19 NM_001256860.1 1 1593 1593 NP_001243789.1 D6RCP7 substitution missense exon GRCh37 9256393 9256393 Chr4(GRCh37):g.9256393G>C 1290 1290 NM_001256860.1:c.1290G>C p.Gln430His p.Gln430His 1 transversion G C G>C 0.000 -0.440 Q Gln CAG 0.744 H His CAC 0.587 430 16 8 Fruitfly 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.02 II.87 233 PASS . . . . . . . . . . . ENSG00000248920:ENST00000515566:exon1:c.G1290C:p.Q430H USP17L19:uc031sdm.1:exon1:c.G1290C:p.Q430H USP17L19:NM_001256860:exon1:c.G1290C:p.Q430H . . 0.25308642 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.251 . @ . . . . . 1 0.372 . . 162.0 . . . . . . . . . . -0.9006 -1.143 -0.901 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000248920 USP17L19 USP17L19 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.965 0.604 . . 37 . 0.341 . . 0.326 . . . 0.331 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . . . . . . . . . . . 2 0.491 . . . . . . . 0.163 . HET . . . . . . . . . . . . . . . . ENST00000515566 0.36 -0.72 . 0.410000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.463 -0.463000 . . 0.410000 . . 1.0000000000000001E-233 0.047 0.211 . 0.157 0.736 . 0.058 . 0.030 -0.463 -0.219 . . . . . 1 1538 10 1/0 0,219,255 +. 4 9259837 C T - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution upstream GRCh37 9259837 9259837 Chr4(GRCh37):g.9259837C>T -13 -13 NM_001256861.1:c.-13C>T p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.047 -1.409 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . -0.7109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 4 9259916 T C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9259916 9259916 Chr4(GRCh37):g.9259916T>C 67 67 NM_001256861.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 1.013 S Ser TCT 0.185 P Pro CCT 0.283 23 16 7 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.13 II.62 237 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.T67C:p.S23P USP17L11:uc031sdn.1:exon1:c.T67C:p.S23P . . . 0.26344085 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.301 . @ . . . . . 1 0.339 . . 372.0 . . . . . . . . . . -0.9130 -1.101 -0.913 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.156 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . D 0.942 0.443 . . 37 . 0.116 . . 0.276 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.140 . . . . . . . 0.280 . HET . . . . . . . . . . . . . . . . ENST00000506151 0.36 0.36 . 0.280000 . . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 0.280000 . . 1.0E-237 0.018 0.193 . 0.090 0.021 . 0.348 . 0.270 0.373 0.062 . . . . . 1 1538 10 1/0 0,184,238 +. 4 9259924 C A - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution synonymous exon GRCh37 9259924 9259924 Chr4(GRCh37):g.9259924C>A 75 75 NM_001256861.1:c.75C>A p.Pro25= p.Pro25Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion C A C>A 0.000 -2.700 P Pro CCC 0.328 P Pro CCA 0.274 25 214 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.C75A:p.P25P USP17L11:uc031sdn.1:exon1:c.C75A:p.P25P . . . 0.22055137 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 399.0 . . . . . . . . . . -0.9348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,244 +. 4 9260008 T C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution synonymous exon GRCh37 9260008 9260008 Chr4(GRCh37):g.9260008T>C 159 159 NM_001256861.1:c.159T>C p.Asp53= p.Asp53Asp 1 transition T C T>C 0.409 -0.037 D Asp GAT 0.461 D Asp GAC 0.539 53 206 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.T159C:p.D53D USP17L11:uc031sdn.1:exon1:c.T159C:p.D53D . . . 0.17291667 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 480.0 . . . . . . . . . . -0.1554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,165,255 +. 4 9260293 A T - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution synonymous exon GRCh37 9260293 9260293 Chr4(GRCh37):g.9260293A>T 444 444 NM_001256861.1:c.444A>T p.Ala148= p.Ala148Ala 1 transversion A T A>T 0.252 -0.602 A Ala GCA 0.226 A Ala GCT 0.263 148 190 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.A444T:p.A148A USP17L11:uc031sdn.1:exon1:c.A444T:p.A148A . . . 0.13448276 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 290.0 . . . . . . . . . . -0.4010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +. 4 9260397 T C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9260397 9260397 Chr4(GRCh37):g.9260397T>C 548 548 NM_001256861.1:c.548T>C p.Val183Ala p.Val183Ala 1 transition T C T>C 0.000 0.367 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 273.26 0.00 Tolerated 0.8 II.56 169 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.T548C:p.V183A USP17L11:uc031sdn.1:exon1:c.T548C:p.V183A . . . 0.10806175 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.014 . . 583.0 . . . . . . . . . . -0.9780 -1.106 -0.978 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . D 0.952 0.502 . . 37 . 0.136 . . 0.239 . . . 0.217 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.010 . . . . . . . 0.132 . LowAF . . . . . . . . . . . . . . . . ENST00000506151 0.36 0.36 . 1.000000 . . . . . . 0.084 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 1.000000 . . 1.0E-169 0.002 0.151 . 0.083 0.003 . 0.230 . 0.270 0.373 0.615 . . . . . 1 1538 10 1/0 0,151,255 +. 4 9260940 G C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9260940 9260940 Chr4(GRCh37):g.9260940G>C 1091 1091 NM_001256861.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 228 4 34 0 12 0 48 128 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 106 Genomes transversion G C G>C 0.717 -0.117 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.53 144 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.G1091C:p.S364T USP17L11:uc031sdn.1:exon1:c.G1091C:p.S364T . . . 0.3432836 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.484 . @ . . . . . 1 0.306 . . 134.0 . . . . . . . . . . -0.5264 -0.708 -0.526 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.153 @ . . . 0.37 0.12 182 ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.912 0.311 . . 37 . 0.298 . . 0.156 . . . 0.394 0.191 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.329 . . . . . . . 0.178 . HET . . . . . . . . . . . . . . . . ENST00000506151 0.36 0.36 . 0.060000 . . . . . . 0.104 . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . 0.246 . 0.443 0.443000 . . 0.060000 . . 1.0E-144 0.897 0.311 . 0.163 0.353 . 0.161 . 0.040 0.443 0.562 . . . . . 1 1538 10 1/0 0,248,255 +. 4 9261083 C T - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9261083 9261083 Chr4(GRCh37):g.9261083C>T 1234 1234 NM_001256861.1:c.1234C>T p.His412Tyr p.His412Tyr 1 transition C T C>T 0.008 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 176 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.C1234T:p.H412Y USP17L11:uc031sdn.1:exon1:c.C1234T:p.H412Y . . . 0.10493827 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.297 . . 162.0 . . . . . . . . . . -0.9392 -1.125 -0.939 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.989 0.859 . . 37 . 0.247 . . 0.235 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.393 . . . . . . . 0.137 . LowAF . . . . . . . . . . . . . . . . ENST00000506151 . . . 0.090000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.064 0.064000 . . 0.090000 . . 1.0E-176 0.011 0.184 . 0.146 0.113 . 0.140 . 0.163 0.064 0.057 . . . . . 1 1538 10 1/0 0,206,255 +. 4 9261139 G C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution missense exon GRCh37 9261139 9261139 Chr4(GRCh37):g.9261139G>C 1290 1290 NM_001256861.1:c.1290G>C p.Gln430His p.Gln430His 1 transversion G C G>C 0.000 -0.440 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 231 PASS . . . . . . . . . . . ENSG00000250745:ENST00000506151:exon1:c.G1290C:p.Q430H USP17L11:uc031sdn.1:exon1:c.G1290C:p.Q430H . . . 0.24398625 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.249 . @ . . . . . 1 0.350 . . 291.0 . . . . . . . . . . -0.9133 -1.154 -0.913 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000250745 USP17L11 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.970 0.650 . . 37 . 0.333 . . 0.319 . . . 0.331 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.481 . . . . . . . 0.178 . HET . . . . . . . . . . . . . . . . ENST00000506151 0.36 -0.72 . 0.460000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.463 -0.463000 . . 0.460000 . . 1.0E-231 0.047 0.211 . 0.155 0.736 . 0.058 . 0.030 -0.463 -0.219 . . . . . 1 1538 10 1/0 0,192,250 +. 4 9261682 G T - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution downstream GRCh37 9261682 9261682 Chr4(GRCh37):g.9261682G>T *240 *240 NM_001256861.1:c.*240G>T p.? p.? 1 transversion G T G>T 0.110 0.044 210 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . . . . . . . . . -0.3926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs868182586 4 9261741 T C - USP17L20 44448 Ubiquitin specific peptidase 17-like family member 20 NM_001256861.1 1 1593 1593 NP_001243790.1 D6RJB6 substitution downstream GRCh37 9261741 9261741 Chr4(GRCh37):g.9261741T>C *299 *299 NM_001256861.1:c.*299T>C p.? p.? 1 rs868182586 no no 0 0.000000 0 transition T C T>C 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41304347 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . . . . . . . . . -0.4208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000250745 USP17L11 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9264664 T C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9264664 9264664 Chr4(GRCh37):g.9264664T>C 67 67 NM_001256862.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 transition T C T>C 0.000 -0.037 S Ser TCT 0.185 P Pro CCT 0.283 23 16 6 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.2 II.60 249 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.T67C:p.S23P USP17L12:uc031sdo.1:exon1:c.T67C:p.S23P . . . 0.3043478 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.113 . @ . . . . . 1 0.110 . . 69.0 . . . . . . . . . . -0.8264 -1.023 -0.826 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.154 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . D 0.926 0.365 . . 37 . 0.136 . . 0.282 . . . 0.510 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.149 . . . . . . . 0.235 . HET . . . . . . . . . . . . . . . . ENST00000506414 0.36 0.36 . 0.280000 . . . . . . 0.034 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 0.280000 . . 1.0E-249 0.007 0.175 . 0.135 0.191 . 0.217 . 0.270 0.373 0.062 . . . . . 1 1538 10 1/0 0,255,255 +. 4 9264672 C A - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9264672 9264672 Chr4(GRCh37):g.9264672C>A 75 75 NM_001256862.1:c.75C>A p.Pro25= p.Pro25Pro 1 transversion C A C>A 0.000 -2.619 P Pro CCC 0.328 P Pro CCA 0.274 25 179 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C75A:p.P25P USP17L12:uc031sdo.1:exon1:c.C75A:p.P25P . . . 0.112676054 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . -0.9307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 4 9264682 T G - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9264682 9264682 Chr4(GRCh37):g.9264682T>G 85 85 NM_001256862.1:c.85T>G p.Phe29Val p.Phe29Val 1 transversion T G T>G 0.000 -0.763 F Phe TTT 0.454 V Val GTT 0.178 29 16 3 Western lowland gorilla 0 -1 -2 0 0 5.II 5.IX 132 84 50 C0 353.86 0.00 Tolerated 0.35 II.60 178 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.T85G:p.F29V USP17L12:uc031sdo.1:exon1:c.T85G:p.F29V . . . 0.10958904 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.055 . @ . . . . . 1 0.067 . . 73.0 . . . . . . . . . . -0.9274 -1.156 -0.927 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.109 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.006 . . . . D 0.949 0.486 . . 37 . 0.095 . . 0.184 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.073 . . . . . . . 0.140 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 -0.72 . 0.160000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.840 -0.840000 . . 0.160000 . . 1.0E-178 0.000 0.063 . 0.117 0.195 . 0.060 . 0.032 -0.840 0.062 . . . . . 1 1538 10 1/0 0,240,255 +. 4 9264698 G A - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9264698 9264698 Chr4(GRCh37):g.9264698G>A 101 101 NM_001256862.1:c.101G>A p.Arg34Gln p.Arg34Gln 1 transition G A G>A 0.039 -0.763 R Arg CGG 0.207 Q Gln CAG 0.744 34 16 4 C. elegans 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.48 II.75 179 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G101A:p.R34Q USP17L12:uc031sdo.1:exon1:c.G101A:p.R34Q . . . 0.112676054 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.264 . . 71.0 . . . . . . . . . . -1.0981 -1.287 -1.098 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.114 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.006 . . . . D 0.940 0.430 . . 37 . 0.055 . . 0.234 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.163 . . . . . . . 0.075 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 -0.72 . 0.270000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.801 -0.801000 . . 0.270000 . . 1.0E-179 0.000 0.063 . 0.062 0.232 . 0.021 . 0.004 -0.801 0.060 . . . . . 1 1538 10 1/0 0,242,255 +. 4 9264701 C G - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9264701 9264701 Chr4(GRCh37):g.9264701C>G 104 104 NM_001256862.1:c.104C>G p.Thr35Ser p.Thr35Ser 1 transversion C G C>G 0.039 -0.602 T Thr ACT 0.243 S Ser AGT 0.149 35 16 3 Western lowland gorilla 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.93 II.75 181 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C104G:p.T35S USP17L12:uc031sdo.1:exon1:c.C104G:p.T35S . . . 0.11594203 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.065 . . 69.0 . . . . . . . . . . -1.0853 -1.281 -1.085 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.112 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.011 . . . . D 0.950 0.493 . . 37 . 0.067 . . 0.240 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.010 . . . . . . . 0.017 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 -0.72 . 0.770000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.463 -0.463000 . . 0.770000 . . 1.0E-181 0.012 0.185 . 0.095 0.233 . 0.075 . 0.028 -0.463 0.057 . . . . . 1 1538 10 1/0 0,243,255 +. 4 9264756 T C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9264756 9264756 Chr4(GRCh37):g.9264756T>C 159 159 NM_001256862.1:c.159T>C p.Asp53= p.Asp53Asp 1 transition T C T>C 0.157 -0.037 D Asp GAT 0.461 D Asp GAC 0.539 53 215 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.T159C:p.D53D USP17L12:uc031sdo.1:exon1:c.T159C:p.D53D . . . 0.2 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.1613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 4 9264882 G A - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9264882 9264882 Chr4(GRCh37):g.9264882G>A 285 285 NM_001256862.1:c.285G>A p.Leu95= p.Leu95Leu 1 transition G A G>A 0.992 0.770 L Leu TTG 0.127 L Leu TTA 0.073 95 184 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G285A:p.L95L USP17L12:uc031sdo.1:exon1:c.G285A:p.L95L . . . 0.121212125 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . 0.1272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +. 4 9264978 G T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9264978 9264978 Chr4(GRCh37):g.9264978G>T 381 381 NM_001256862.1:c.381G>T p.Thr127= p.Thr127Thr 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion G T G>T 0.969 -2.619 T Thr ACG 0.116 T Thr ACT 0.243 127 199 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G381T:p.T127T USP17L12:uc031sdo.1:exon1:c.G381T:p.T127T . . . 0.15566038 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 212.0 . . . . . . . . . . -0.9558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,255 +. 4 9265034 C A - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution stop gain exon GRCh37 9265034 9265034 Chr4(GRCh37):g.9265034C>A 437 437 NM_001256862.1:c.437C>A p.Ser146* p.Ser146* 1 transversion C A C>A 0.748 0.205 S Ser TCA 0.148 * * TAA 0.277 146 181 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C437A:p.S146X USP17L12:uc031sdo.1:exon1:c.C437A:p.S146X . . . 0.114503816 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.946 . @ . . . . . 0 0.297 . . 262.0 . . . . . . . . . . -0.0171 -0.468 -0.017 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.071 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 0.36 . 0.120000 . . . . . . 0.025 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.443 0.443000 . . 0.120000 . . 1.0E-181 0.000 0.063 . 0.150 0.004 . 0.095 . 0.268 0.443 -0.269 . . . . . 1 1538 10 1/0 0,186,255 +. 4 9265041 A T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9265041 9265041 Chr4(GRCh37):g.9265041A>T 444 444 NM_001256862.1:c.444A>T p.Ala148= p.Ala148Ala 1 transversion A T A>T 0.551 -0.602 A Ala GCA 0.226 A Ala GCT 0.263 148 192 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.A444T:p.A148A USP17L12:uc031sdo.1:exon1:c.A444T:p.A148A . . . 0.13821138 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . -0.3912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,191,255 +. 4 9265145 T C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265145 9265145 Chr4(GRCh37):g.9265145T>C 548 548 NM_001256862.1:c.548T>C p.Val183Ala p.Val183Ala 1 transition T C T>C 0.000 0.367 V Val GTG 0.468 A Ala GCG 0.107 183 16 3 Western lowland gorilla 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 283.42 0.00 Tolerated 0.51 II.56 180 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.T548C:p.V183A USP17L12:uc031sdo.1:exon1:c.T548C:p.V183A . . . 0.11281071 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.017 . . 523.0 . . . . . . . . . . -0.9968 -1.178 -0.997 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.280 . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . D 0.952 0.503 . . 37 . 0.174 . . 0.180 . . . 0.209 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.010 . . . . . . . 0.055 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 0.36 0.36 . 1.000000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 1.000000 . . 1.0E-180 0.000 0.063 . 0.074 0.003 . 0.068 . 0.270 0.373 0.615 . . . . . 1 1538 10 1/0 0,156,255 +. 4 9265526 C T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265526 9265526 Chr4(GRCh37):g.9265526C>T 929 929 NM_001256862.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 transition C T C>T 0.961 0.205 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.23 II.53 224 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C929T:p.P310L USP17L12:uc031sdo.1:exon1:c.C929T:p.P310L . . . 0.22580644 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.239 . @ . . . . . 1 0.104 . . 93.0 . . . . . . . . . . -1.3714 -1.620 -1.371 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.994 0.913 . . 37 . 0.072 . . 0.193 . . . 0.399 0.248 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.365 . . . . . . . 0.052 . HET . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.110000 . . . . . . 0.038 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.143 -2.143000 . . 0.110000 . . 1.0E-224 0.000 0.063 . 0.147 0.002 . 0.095 . 0.007 -2.143 -2.473 . . . . . 1 1538 10 1/0 0,240,255 +. 4 9265676 C T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265676 9265676 Chr4(GRCh37):g.9265676C>T 1079 1079 NM_001256862.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 transition C T C>T 0.031 -0.844 T Thr ACT 0.243 I Ile ATT 0.356 360 16 8 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.51 II.54 175 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C1079T:p.T360I USP17L12:uc031sdo.1:exon1:c.C1079T:p.T360I . . . 0.10236221 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.163 . @ . . . . . 1 0.146 . . 127.0 . . . . . . . . . . -0.6756 -0.929 -0.676 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.961 0.570 . . 37 . 0.338 . . 0.194 . . . 0.569 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.430 . . . . . . . 0.192 . LowAF . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.060000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.119 0.119000 . . 0.060000 . . 1.0E-175 0.000 0.063 . 0.120 0.035 . 0.039 . 0.268 0.119 -0.632 . . . . . 1 1538 10 1/0 0,216,255 +. 4 9265688 G C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265688 9265688 Chr4(GRCh37):g.9265688G>C 1091 1091 NM_001256862.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 transversion G C G>C 0.756 -0.360 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 171 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G1091C:p.S364T USP17L12:uc031sdo.1:exon1:c.G1091C:p.S364T . . . 0.33027524 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.464 . @ . . . . . 1 0.272 . . 109.0 . . . . . . . . . . -0.5591 -0.743 -0.559 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.942 0.443 . . 37 . 0.278 . . 0.158 . . . 0.419 0.192 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.339 . . . . . . . 0.069 . HET . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.030000 . . . . . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.119 0.119000 . . 0.030000 . . 1.0E-171 0.010 0.182 . 0.158 0.369 . 0.110 . 0.040 0.119 0.562 . . . . . 1 1538 10 1/0 0,251,255 +. 4 9265764 A G - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution synonymous exon GRCh37 9265764 9265764 Chr4(GRCh37):g.9265764A>G 1167 1167 NM_001256862.1:c.1167A>G p.Arg389= p.Arg389Arg 1 transition A G A>G 0.898 -1.732 R Arg AGA 0.205 R Arg AGG 0.207 389 111 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.A1167G:p.R389R USP17L12:uc031sdo.1:exon1:c.A1167G:p.R389R . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.6584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 4 9265831 C T - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265831 9265831 Chr4(GRCh37):g.9265831C>T 1234 1234 NM_001256862.1:c.1234C>T p.His412Tyr p.His412Tyr 1 transition C T C>T 0.268 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 2 Macaque 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.12 II.86 202 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.C1234T:p.H412Y USP17L12:uc031sdo.1:exon1:c.C1234T:p.H412Y . . . 0.16504854 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.262 . . 103.0 . . . . . . . . . . -0.8969 -1.074 -0.897 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.987 0.836 . . 37 . 0.253 . . 0.278 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.395 . . . . . . . 0.024 . HET . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.040000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.064 0.064000 . . 0.040000 . . 1.0E-202 0.208 0.242 . 0.146 0.115 . 0.140 . 0.163 0.064 0.057 . . . . . 1 1538 10 1/0 0,231,255 +. 4 9265887 G C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution missense exon GRCh37 9265887 9265887 Chr4(GRCh37):g.9265887G>C 1290 1290 NM_001256862.1:c.1290G>C p.Gln430His p.Gln430His 1 transversion G C G>C 0.102 0.125 Q Gln CAG 0.744 H His CAC 0.587 430 16 6 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.86 235 PASS . . . . . . . . . . . ENSG00000249811:ENST00000506414:exon1:c.G1290C:p.Q430H USP17L12:uc031sdo.1:exon1:c.G1290C:p.Q430H . . . 0.25698325 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.284 . @ . . . . . 1 0.381 . . 179.0 . . . . . . . . . . -0.7531 -0.961 -0.753 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.988 0.837 . . 37 . 0.353 . . 0.313 . . . 0.331 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.496 . . . . . . . 0.039 . HET . . . . . . . . . . . . . . . . ENST00000506414 . . . 0.450000 . . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.119 0.119000 . . 0.450000 . . 1.0E-235 0.306 0.252 . 0.155 0.736 . 0.061 . 0.030 0.119 -0.219 . . . . . 1 1538 10 1/0 0,215,255 +. 4 9266489 T C - USP17L21 44449 Ubiquitin specific peptidase 17-like family member 21 NM_001256862.1 1 1593 1593 NP_001243791.1 D6R901 substitution downstream GRCh37 9266489 9266489 Chr4(GRCh37):g.9266489T>C *299 *299 NM_001256862.1:c.*299T>C p.? p.? 1 transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.59375 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . . . . . . . . . -0.4195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000249811 USP17L12 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 9269411 T C - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution missense exon GRCh37 9269411 9269411 Chr4(GRCh37):g.9269411T>C 67 67 NM_001256863.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 12 0 4 0 2 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3412 Exomes transition T C T>C 0.000 -0.037 S Ser TCT 0.185 P Pro CCT 0.283 23 16 6 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.13 II.58 227 PASS . . . . . . . . . . . ENSG00000248933:ENST00000511280:exon1:c.T67C:p.S23P USP17L20:uc031sdp.1:exon1:c.T67C:p.S23P . . . 0.23160763 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.318 . . 367.0 . . . . . . . . . . -0.6267 -0.863 -0.627 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.157 . . exonic exonic exonic . . 0.151 @ . . . . . . ENSG00000248933 USP17L20 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . T 0.033 0.002 . . 37 . 0.195 . . 0.282 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.014 . . 0 0 0 0 0 0 . 0.670 . . 0.566 . . . . . . 2 0.143 . . . . . . . 0.225 . HET . . . . . . . . . . . . . . . . ENST00000511280 0.337 0.337 . 0.280000 D6RA61 . . . . . 0.031 . . . . 0 0 . 0 . 0 0 . . . . . . . . . . . 0.246 . 0.373 0.373000 . . 0.280000 . . 1.0000000000000001E-227 0.049 0.212 . 0.114 0.204 . 0.335 . 0.270 0.373 0.062 . . . . . 1 1538 10 1/0 0,181,243 +. 4 9270435 G C - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution missense exon GRCh37 9270435 9270435 Chr4(GRCh37):g.9270435G>C 1091 1091 NM_001256863.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 0.002194 0.011662 0.003106 0.000000 0.000000 0.000000 0.000594 0.002070 0.000000 0.011662 15 8 1 0 0 0 2 4 0 6838 686 322 102 146 0 3366 1932 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 8 1 0 0 0 2 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.929 0.448 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.4 II.53 123 PASS . . . . . . . . . . . ENSG00000248933:ENST00000511280:exon1:c.G1091C:p.S364T USP17L20:uc031sdp.1:exon1:c.G1091C:p.S364T . . . 0.118694365 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.523 . @ . . . . . 1 0.306 . . 337.0 . . . . . . . . . . -0.6709 -0.777 -0.671 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.151 @ . . . 0.4 0.26 182 ENSG00000248933 USP17L20 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . T 0.046 0.002 . . 37 . 0.267 . . 0.257 . . . 0.424 0.216 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.279 . . 0.358 . . . . . . 2 0.330 . . . . . . . 0.069 . LowAF . . . . . . . . . . . . . . . . ENST00000511280 0.337 0.337 . 0.060000 D6RA61 . . . . . 0.206 . . . . 0 0 0 0 . 0 . . 0.0117 0.0022 0.0031 0 0 0.0021 0.0006 0 . . 0.246 . 0.444 0.444000 . . 0.060000 . . 1.0E-123 0.997 0.399 . 0.161 0.353 . 0.148 . 0.040 0.444 0.562 . . . rs62411732 rs62411732 1 1538 10 1/0 0,179,255 +. 4 9270578 C T - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution missense exon GRCh37 9270578 9270578 Chr4(GRCh37):g.9270578C>T 1234 1234 NM_001256863.1:c.1234C>T p.His412Tyr p.His412Tyr 1 0.002709 0.001741 0.012376 0.000000 0.005929 0.000000 0.002380 0.002622 0.003676 0.012376 41 5 5 0 3 0 19 7 2 15136 2872 404 158 506 0 7982 2670 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 5 5 0 3 0 19 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.2 II.87 194 PASS . . . . . . . . . . . ENSG00000248933:ENST00000511280:exon1:c.C1234T:p.H412Y USP17L20:uc031sdp.1:exon1:c.C1234T:p.H412Y . . . 0.1418919 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.270 . . 148.0 . . . . . . . . . . -0.9145 -1.114 -0.915 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.28 0.12 182 ENSG00000248933 USP17L20 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . T 0.060 0.003 . . 37 . 0.256 . . 0.158 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.504 . . 0.447 . . . . . . 2 0.395 . . . . . . . 0.026 . LowAF . . . . . . . . . . . . . . . . ENST00000511280 . . . 0.390000 D6RA61 . . . . . 0.007 . . . . . . . . . . . . 0.0017 0.0027 0.0124 0 0.0059 0.0026 0.0024 0.0037 . . 0.428 . 0.064 0.064000 . . 0.390000 . . 1.0E-194 0.027 0.200 . 0.145 0.113 . 0.076 . 0.163 0.064 0.057 . . . . . 1 1538 10 1/0 0,214,255 +. 4 9271177 G T - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution downstream GRCh37 9271177 9271177 Chr4(GRCh37):g.9271177G>T *240 *240 NM_001256863.1:c.*240G>T p.? p.? 1 transversion G T G>T 0.110 0.044 190 PASS . . . . . . . . . . . . . . . . 0.13559322 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 59.0 . . . . . . . . . . -0.3924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000248933 USP17L20 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 4 9271236 T C - USP17L22 44450 Ubiquitin specific peptidase 17-like family member 22 NM_001256863.1 1 1593 1593 NP_001243792.1 D6RA61 substitution downstream GRCh37 9271236 9271236 Chr4(GRCh37):g.9271236T>C *299 *299 NM_001256863.1:c.*299T>C p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.004 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4318182 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . . . . . . . . . -0.4212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.38 0.08 182 ENSG00000248933 USP17L20 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242327.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242326.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242328.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242330.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242331.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001242332.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs139874331 4 9326862 C A - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution upstream GRCh37 9326862 9326862 Chr4(GRCh37):g.9326862C>A -29 -29 NM_001256867.1:c.-29C>A p.? p.? 1 rs139874331 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5301 Exomes transversion C A C>A 0.000 -3.023 203 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . -0.7415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.66 0.24 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139874331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs9684394 rs9684394 rs79488718 rs139874331 1 1538 10 1/0 0,255,255 +rs148731487 4 9327334 A T - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242327.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242326.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242328.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242330.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242331.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001242332.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs148731487 4 9327334 A T - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution synonymous exon GRCh37 9327334 9327334 Chr4(GRCh37):g.9327334A>T 444 444 NM_001256867.1:c.444A>T p.Ala148= p.Ala148Ala 1 rs148731487 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.031 0.690 A Ala GCA 0.226 A Ala GCT 0.263 148 202 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A444T:p.A148A USP17L27:uc021xll.1:exon1:c.A444T:p.A148A . . . 0.16352202 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 318.0 . . . . . . . . . . 0.0713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148731487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs71257313 rs148731487 rs148731487 1 1538 10 1/0 0,182,255 +rs62411702 4 9327439 A G - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242327.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242326.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242328.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242330.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242331.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001242332.1:c.549A>G p.Val183= p.Val183Val 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs62411702 4 9327439 A G - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution synonymous exon GRCh37 9327439 9327439 Chr4(GRCh37):g.9327439A>G 549 549 NM_001256867.1:c.549A>G p.Val183= p.Val183Val 1 rs62411702 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.937 -0.117 V Val GTA 0.114 V Val GTG 0.468 183 190 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.A549G:p.V183V USP17L27:uc021xll.1:exon1:c.A549G:p.V183V . . . 0.13257575 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 264.0 . . . . . . . . . . -0.2936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.23 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62411702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs62411702 rs62411702 rs141534179 rs141534179 1 1538 10 1.I 0,0,0 +rs150869171 4 9327819 C T - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242327.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242326.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242328.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242330.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242331.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001242332.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +rs150869171 4 9327819 C T - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9327819 9327819 Chr4(GRCh37):g.9327819C>T 929 929 NM_001256867.1:c.929C>T p.Pro310Leu p.Pro310Leu 1 transition C T C>T 0.984 0.448 P Pro CCG 0.115 L Leu CTG 0.404 310 16 5 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 155.34 0.00 Tolerated 0.24 II.54 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C929T:p.P310L USP17L27:uc021xll.1:exon1:c.C929T:p.P310L . . . 0.15753424 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.148 . . 146.0 . . . . . . . . . . -1.5611 -1.707 -1.561 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.096 @ . . . 0.38 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . D 0.956 0.530 . . 37 . 0.071 . . 0.365 . . . . 0.265 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.377 . . . . . 0.056 . 0.065 . HET 0.15 . . . . . . . . . . . . . II.69 . ENST00000504481 0.503 -1.01 . 0.110000 Q0WX57 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.566 -2.566000 . . 0.110000 . . 1.0E-111 0.001 0.137 . 0.237 0.003 . 0.197 . 0.043 -2.566 -2.530 . . . . . 1 1538 10 1/0 0,222,255 +. 4 9327969 C T - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242327.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242326.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242328.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242330.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242331.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001242332.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +. 4 9327969 C T - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9327969 9327969 Chr4(GRCh37):g.9327969C>T 1079 1079 NM_001256867.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 transition C T C>T 0.992 0.528 T Thr ACT 0.243 I Ile ATT 0.356 360 16 7 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.47 II.54 183 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1079T:p.T360I USP17L27:uc021xll.1:exon1:c.C1079T:p.T360I . . . 0.12 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.201 . @ . . . . . 1 0.165 . . 200.0 . . . . . . . . . . -0.7021 -0.806 -0.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.161 @ . . . . . . ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.884 0.233 . . 37 . 0.289 . . 0.277 . . . . 0.278 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.102 . . 0.203 . . . . . . 0 0.430 . . . . . . . 0.181 . LowAF 0.08 . . . . . . . . . . . . . . . ENST00000504481 0.503 0.503 . 0.060000 Q0WX57 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.555 0.555000 . . 0.060000 . . 1.0E-183 0.040 0.208 . 0.120 0.014 . 0.171 . 0.268 0.555 -0.632 . . . . . 1 1538 10 1/0 0,198,255 +rs145657146 4 9327981 G C - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242327.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242326.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242328.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242330.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242331.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001242332.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs145657146 4 9327981 G C - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9327981 9327981 Chr4(GRCh37):g.9327981G>C 1091 1091 NM_001256867.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 rs145657146 yes no Frequency 1 0.000000 0 transversion G C G>C 0.992 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 364 16 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 248.24 0.00 Tolerated 0.38 II.54 135 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1091C:p.S364T USP17L27:uc021xll.1:exon1:c.G1091C:p.S364T . . . 0.296875 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.428 . @ . . . . . 1 0.264 . . 192.0 . . . . . . . . . . -0.5450 -0.742 -0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.102 @ . . . 0.4 0.22 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.900 0.272 . . 37 . 0.290 . . 0.151 . . . . 0.215 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . 0.455 . . 0.490 . . . . . . 0 0.334 . . . . . . . 0.115 . HET 0.07 rs145657146 . . . . . . . . . . . . . . ENST00000504481 0.503 -0.826 . 0.060000 Q0WX57 . . . . . 0.187 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.377 -0.377000 . . 0.060000 . . 1.0E-135 0.130 0.231 . 0.163 0.355 . 0.176 . 0.040 -0.377 0.562 . rs62411732 rs62411732 rs145657146 rs145657146 1 1538 10 1/0 0,230,255 +rs62411703 4 9328087 C A - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242327.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242326.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242328.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242330.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242331.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001242332.1:c.1197C>A p.Thr399= p.Thr399Thr 1 Hyaluronan/mRNA-binding protein rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs62411703 4 9328087 C A - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution synonymous exon GRCh37 9328087 9328087 Chr4(GRCh37):g.9328087C>A 1197 1197 NM_001256867.1:c.1197C>A p.Thr399= p.Thr399Thr 1 rs62411703 no no 0 0.000000 0 transversion C A C>A 0.000 -2.700 T Thr ACC 0.361 T Thr ACA 0.280 399 111 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1197A:p.T399T USP17L27:uc021xll.1:exon1:c.C1197A:p.T399T . . . 1.0 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 7.0 . . . . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.25 182 ENSG00000232264 USP17L27 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62411703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62411703 rs62411703 rs147572968 rs147572968 1 1538 255 1.I 0,0,255 +rs202177723 4 9328124 C T - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242327.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242326.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242328.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242330.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242331.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001242332.1:c.1234C>T p.His412Tyr p.His412Tyr 1 Hyaluronan/mRNA-binding protein rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs202177723 4 9328124 C T - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9328124 9328124 Chr4(GRCh37):g.9328124C>T 1234 1234 NM_001256867.1:c.1234C>T p.His412Tyr p.His412Tyr 1 rs202177723 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.044 H His CAC 0.587 Y Tyr TAC 0.562 412 16 3 Western lowland gorilla 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 0.4 II.89 239 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.C1234T:p.H412Y USP17L27:uc021xll.1:exon1:c.C1234T:p.H412Y . . . 0.275 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.158 . @ . . . . . 1 0.332 . . 40.0 . . . . . . . . . . -1.0157 -1.192 -1.016 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . . @ . . . 0.42 0.25 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.977 0.711 . . 37 . 0.206 . . 0.181 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.422 . . 0.326 . . . . . . 0 0.395 . . . . . . . 0.026 . HET 0.17 rs202177723 . . . . . . . . . . . . . . ENST00000504481 . . . 0.110000 Q0WX57 . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.064 0.064000 . . 0.110000 . . 1.0E-239 0.119 0.229 . 0.145 0.098 . 0.140 . 0.163 0.064 0.057 . . . rs202177723 rs202177723 1 1538 10 1/0 0,255,255 +rs201401878 4 9328180 G C - USP17L24 44453 Ubiquitin specific peptidase 17-like family member 24 NM_001242327.1 1 1593 1593 NP_001229256.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242327.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L25 44452 Ubiquitin specific peptidase 17-like family member 25 NM_001242326.1 1 1593 1593 NP_001229255.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242326.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L26 44454 Ubiquitin specific peptidase 17-like family member 26 NM_001242328.1 1 1593 1593 NP_001229257.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242328.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L27 44455 Ubiquitin specific peptidase 17-like family member 27 NM_001242330.1 1 1593 1593 NP_001229259.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242330.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L28 44456 Ubiquitin specific peptidase 17-like family member 28 NM_001242331.1 1 1593 1593 NP_001229260.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242331.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L29 44457 Ubiquitin specific peptidase 17-like family member 29 NM_001242332.1 1 1593 1593 NP_001229261.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001242332.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +rs201401878 4 9328180 G C - USP17L30 44458 Ubiquitin specific peptidase 17-like family member 30 NM_001256867.1 1 1593 1593 NP_001243796.1 Q0WX57 substitution missense exon GRCh37 9328180 9328180 Chr4(GRCh37):g.9328180G>C 1290 1290 NM_001256867.1:c.1290G>C p.Gln430His p.Gln430His 1 rs201401878 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.198 Q Gln CAG 0.744 H His CAC 0.587 430 16 7 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.89 219 PASS . . . . . . . . . . . ENSG00000232264:ENST00000504481:exon1:c.G1290C:p.Q430H USP17L27:uc021xll.1:exon1:c.G1290C:p.Q430H . . . 0.21052632 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.111 . @ . . . . . 1 0.194 . . 95.0 . . . . . . . . . . -0.9507 -1.163 -0.951 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.084 @ . . . 0.38 0.23 182 ENSG00000232264 USP17L27 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.976 0.707 . . 37 . 0.321 . . 0.215 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.405 . . 0.426 . . . . . . 0 0.491 . . . . . 0.055 . 0.117 . HET 0.28 rs201401878 . . . . . . . . . . . . II.83 . ENST00000504481 0.714 -1.43 . 0.460000 Q0WX57 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.234 -0.234000 . . 0.460000 . . 1.0E-219 0.306 0.252 . 0.157 0.736 . 0.061 . 0.030 -0.234 -0.219 . rs62411704 rs62411704 rs201401878 rs201401878 1 1538 10 1/0 0,238,255 +. (chr4:9331608 C/A) 4 9331608 C A Not on a known gene +. (chr4:9331703 T/C) 4 9331703 T C Not on a known gene +. (chr4:9331711 C/A) 4 9331711 C A Not on a known gene +. (chr4:9331795 T/C) 4 9331795 T C Not on a known gene +. (chr4:9332080 A/T) 4 9332080 A T Not on a known gene +. (chr4:9332185 A/G) 4 9332185 A G Not on a known gene +rs201847703 (chr4:9332565 C/T) 4 9332565 C T Not on a known gene +rs148982482 (chr4:9332727 G/C) 4 9332727 G C Not on a known gene +rs148171192 (chr4:9332870 C/T) 4 9332870 C T Not on a known gene +rs142001065 (chr4:9332926 G/C) 4 9332926 G C Not on a known gene +rs1971253 (chr4:9333528 T/C) 4 9333528 T C Not on a known gene +. (chr4:9336827 A/T) 4 9336827 A T Not on a known gene +rs201343622 (chr4:9337312 C/T) 4 9337312 C T Not on a known gene +. (chr4:9337462 C/T) 4 9337462 C T Not on a known gene +rs200371067 (chr4:9337474 G/C) 4 9337474 G C Not on a known gene +. (chr4:9337559 A/T) 4 9337559 A T Not on a known gene +. (chr4:9337580 C/A) 4 9337580 C A Not on a known gene +rs201590862 (chr4:9337617 C/T) 4 9337617 C T Not on a known gene +. (chr4:9337645 A/G) 4 9337645 A G Not on a known gene +rs200663028 (chr4:9337673 G/C) 4 9337673 G C Not on a known gene +. (chr4:9338275 T/C) 4 9338275 T C Not on a known gene +. 4 9341153 A G - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9341153 9341153 Chr4(GRCh37):g.9341153A>G 25 25 NM_001242329.1:c.25A>G p.Arg9Gly p.Arg9Gly 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition A G A>G 0.055 -1.005 R Arg AGA 0.205 G Gly GGA 0.246 9 14 2 C. elegans -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Tolerated 0.4 II.84 111 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.A25G:p.R9G USP17L24:uc021xlo.1:exon1:c.A25G:p.R9G . . . 1.0 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.077 . . 5.0 . . . . . . . . . . -1.3292 -1.424 -1.329 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.107 . . exonic exonic exonic . . 0.148 @ . . . . . . ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.010 . . . . D 0.989 0.851 . . 37 . 0.040 . . 0.277 . . . 0.016 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.010 . . . . . . . 0.069 . HOM 1 . . . . . . . . . . . . . . . ENST00000507227 0.256 0.256 . 1.000000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.108 -1.108000 . . 1.000000 . . 1.0E-111 0.768 0.291 . 0.043 0.061 . 0.150 . 0.062 -1.108 -2.067 . . . . . 1 1538 255 1.I 0,0,255 +. 4 9341195 T C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9341195 9341195 Chr4(GRCh37):g.9341195T>C 67 67 NM_001242329.1:c.67T>C p.Ser23Pro p.Ser23Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.110 0.932 S Ser TCT 0.185 P Pro CCT 0.283 23 14 4 Philippine tarsier -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.28 II.84 247 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.T67C:p.S23P USP17L24:uc021xlo.1:exon1:c.T67C:p.S23P . . . 0.29807693 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.131 . . 104.0 . . . . . . . . . . -0.8026 -1.010 -0.803 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.156 . . exonic exonic exonic . . 0.148 @ . . . . . . ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.027 . . . . D 0.913 0.313 . . 37 . 0.138 . . 0.283 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.156 . . . . . . . 0.263 . HET 0.26 . . . . . . . . . . . . . . . ENST00000507227 0.256 0.256 . 0.250000 . . . . . . 0.028 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.324 0.324000 . . 0.250000 . . 1.0E-247 0.010 0.182 . 0.074 0.020 . 0.247 . 0.277 0.324 0.062 . . . . . 1 1538 10 1/0 0,240,255 +. 4 9341203 C A - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution synonymous exon GRCh37 9341203 9341203 Chr4(GRCh37):g.9341203C>A 75 75 NM_001242329.1:c.75C>A p.Pro25= p.Pro25Pro 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.016 -1.732 P Pro CCC 0.328 P Pro CCA 0.274 25 231 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.C75A:p.P25P USP17L24:uc021xlo.1:exon1:c.C75A:p.P25P . . . 0.24590164 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.7392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.15 182 ENSG00000227140 USP17L24 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +. 4 9341287 T C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution synonymous exon GRCh37 9341287 9341287 Chr4(GRCh37):g.9341287T>C 159 159 NM_001242329.1:c.159T>C p.Asp53= p.Asp53Asp 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 -1.005 D Asp GAT 0.461 D Asp GAC 0.539 53 213 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.T159C:p.D53D USP17L24:uc021xlo.1:exon1:c.T159C:p.D53D . . . 0.19186047 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 344.0 . . . . . . . . . . -0.3242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227140 USP17L24 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,181,255 +. 4 9341572 A T - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution synonymous exon GRCh37 9341572 9341572 Chr4(GRCh37):g.9341572A>T 444 444 NM_001242329.1:c.444A>T p.Ala148= p.Ala148Ala 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion A T A>T 0.953 0.286 A Ala GCA 0.226 A Ala GCT 0.263 148 175 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.A444T:p.A148A USP17L24:uc021xlo.1:exon1:c.A444T:p.A148A . . . 0.103658535 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 328.0 . . . . . . . . . . -0.2381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000227140 USP17L24 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 8 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +. 4 9342207 C T - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9342207 9342207 Chr4(GRCh37):g.9342207C>T 1079 1079 NM_001242329.1:c.1079C>T p.Thr360Ile p.Thr360Ile 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.213 0.367 T Thr ACT 0.243 I Ile ATT 0.356 360 14 8 Giant panda -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 264.72 0.00 Tolerated 0.43 II.66 183 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.C1079T:p.T360I USP17L24:uc021xlo.1:exon1:c.C1079T:p.T360I . . . 0.119617224 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.085 . @ . . . . . 1 0.131 . . 209.0 . . . . . . . . . . -0.4069 -0.621 -0.407 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.160 @ . . . . . . ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . D 0.925 0.359 . . 37 . 0.361 . . 0.202 . . . 0.334 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.430 . . . . . . . 0.222 . LowAF 0.1 . . . . . . . . . . . . . . . ENST00000507227 0.487 0.487 . 0.060000 . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.542 0.542000 . . 0.060000 . . 1.0E-183 0.014 0.188 . 0.083 0.014 . 0.147 . 0.275 0.542 -0.632 . . . . . 1 1538 10 1/0 0,196,255 +rs199855117 4 9342219 G C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9342219 9342219 Chr4(GRCh37):g.9342219G>C 1091 1091 NM_001242329.1:c.1091G>C p.Ser364Thr p.Ser364Thr 1 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs199855117 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 11113 Exomes transversion G C G>C 0.992 0.367 S Ser AGT 0.149 T Thr ACT 0.243 364 14 6 Giant panda 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 254.51 0.00 Tolerated 0.26 II.66 158 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.G1091C:p.S364T USP17L24:uc021xlo.1:exon1:c.G1091C:p.S364T . . . 0.2722513 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.369 . @ . . . . . 1 0.242 . . 191.0 . . . . . . . . . . -0.5096 -0.686 -0.510 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.327 . . exonic exonic exonic . . 0.160 @ . . . 0.45 0.24 182 ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . D 0.901 0.275 . . 37 . 0.273 . . 0.150 . . . 0.370 0.217 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.335 . . . . . . . 0.153 . HET 0.05 rs199855117 . . . . . . . . . . . . . . ENST00000507227 0.487 0.487 . 0.060000 . . . . . . 0.187 . . . . 0 . . . . 0 . . . . . . . . . . . . 0.246 . 0.542 0.542000 . . 0.060000 . . 1.0E-158 0.967 0.338 . 0.108 0.355 . 0.194 . 0.056 0.542 0.562 . . . rs199855117 rs199855117 1 1538 10 1/0 0,221,255 +rs200006135 4 9342418 G C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution missense exon GRCh37 9342418 9342418 Chr4(GRCh37):g.9342418G>C 1290 1290 NM_001242329.1:c.1290G>C p.Gln430His p.Gln430His 1 Hyaluronan/mRNA-binding protein rs200006135 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion G C G>C 0.000 -0.279 Q Gln CAG 0.744 H His CAC 0.587 430 14 6 Giant panda 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.03 II.87 255 PASS . . . . . . . . . . . ENSG00000227140:ENST00000507227:exon1:c.G1290C:p.Q430H USP17L24:uc021xlo.1:exon1:c.G1290C:p.Q430H . . . 0.3478261 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.137 . @ . . . . . 1 0.363 . . 69.0 . . . . . . . . . . -0.8513 -1.097 -0.851 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.110 @ . . . 0.38 0.22 182 ENSG00000227140 USP17L24 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.969 0.637 . . 37 . 0.342 . . 0.319 . . . 0.311 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 8 0.496 . . . . . . . 0.077 . HET . rs200006135 . . . . . . . . . . . . . . ENST00000507227 0.487 -0.608 . 0.420000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.315 -0.315000 . . 0.420000 . . 1.0E-255 0.046 0.210 . 0.043 0.736 . 0.059 . 0.049 -0.315 -0.219 . . . rs200006135 rs200006135 1 1538 10 1/0 0,255,255 +. 4 9343020 T C - USP17L5 37177 Ubiquitin specific peptidase 17-like family member 5 NM_001242329.1 1 1593 1593 NP_001229258.1 A8MUK1 substitution downstream GRCh37 9343020 9343020 Chr4(GRCh37):g.9343020T>C *299 *299 NM_001242329.1:c.*299T>C p.? p.? 1 transition T C T>C 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.425 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . . . . . . . . . -0.3460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . . . . ENSG00000227140 USP17L24 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr4:9345845 C/A) 4 9345845 C A Not on a known gene +. (chr4:9345898 A/G) 4 9345898 A G Not on a known gene +. (chr4:9345940 T/C) 4 9345940 T C Not on a known gene +. (chr4:9345948 C/A) 4 9345948 C A Not on a known gene +. (chr4:9346032 T/C) 4 9346032 T C Not on a known gene +. (chr4:9346317 A/T) 4 9346317 A T Not on a known gene +. (chr4:9346356 C/T) 4 9346356 C T Not on a known gene +rs199688638 (chr4:9346964 G/C) 4 9346964 G C Not on a known gene +rs200331150 (chr4:9347107 C/T) 4 9347107 C T Not on a known gene +. (chr4:9347135 A/G) 4 9347135 A G Not on a known gene +rs199503619 (chr4:9347163 G/C) 4 9347163 G C Not on a known gene +. (chr4:9350590 C/A) 4 9350590 C A Not on a known gene +. (chr4:9350643 A/G) 4 9350643 A G Not on a known gene +. (chr4:9350685 T/C) 4 9350685 T C Not on a known gene +. (chr4:9350693 C/A) 4 9350693 C A Not on a known gene +. (chr4:9350777 T/C) 4 9350777 T C Not on a known gene +. (chr4:9351062 A/T) 4 9351062 A T Not on a known gene +rs201128121 (chr4:9351547 C/T) 4 9351547 C T Not on a known gene +. (chr4:9351697 C/T) 4 9351697 C T Not on a known gene +rs199873925 (chr4:9351709 G/C) 4 9351709 G C Not on a known gene +. (chr4:9355430 T/C) 4 9355430 T C Not on a known gene +. (chr4:9355522 T/C) 4 9355522 T C Not on a known gene +. (chr4:9355912 A/G) 4 9355912 A G Not on a known gene +rs199524560 (chr4:9356454 G/C) 4 9356454 G C Not on a known gene +. 4 9360080 C A - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution upstream GRCh37 9360080 9360080 Chr4(GRCh37):g.9360080C>A -28 -28 NR_046416.1:n.-28C>A p.? p.? 1 607011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 302 0 150 0 32 102 8 0 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 99 Exomes transversion C A C>A 0.031 -1.489 199 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . . . . . . . . . -0.6388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . rs79488718 rs79488718 1 1538 10 1/0 0,255,255 +. 4 9360175 T C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9360175 9360175 Chr4(GRCh37):g.9360175T>C 68 68 NR_046416.1:n.68T>C 1 607011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1476 6 504 4 250 460 190 8 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 52 Exomes transition T C T>C 0.000 1.174 245 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.T67C:p.S23P . . . 0.29126215 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 103.0 . . . . . . . . . . -0.2101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.45 0.12 182 ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 4 9360183 C A - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9360183 9360183 Chr4(GRCh37):g.9360183C>A 76 76 NR_046416.1:n.76C>A 1 607011 0.002793 0.000000 0.004132 0.000000 0.004202 0.000000 0.005618 0.000000 0.000000 0.005618 4 0 2 0 1 0 1 0 0 1432 8 484 6 238 452 178 8 58 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 53 Exomes transversion C A C>A 0.000 -3.184 220 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.C75A:p.P25P . . . 0.21323529 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.8561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.46 0.07 182 ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0028 0.0041 0 0.0042 0 0.0056 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 4 9360267 T C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9360267 9360267 Chr4(GRCh37):g.9360267T>C 160 160 NR_046416.1:n.160T>C 1 607011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3910 80 780 54 614 876 1332 58 116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Exomes transition T C T>C 0.000 -0.763 204 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.T159C:p.D53D . . . 0.16949153 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 354.0 . . . . . . . . . . -0.0961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,178,255 +. 4 9360552 A T - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9360552 9360552 Chr4(GRCh37):g.9360552A>T 445 445 NR_046416.1:n.445A>T 1 607011 0.000537 0.000000 0.000000 0.000000 0.003044 0.000000 0.000330 0.000000 0.000000 0.003044 5 0 0 0 4 0 1 0 0 9312 214 2518 168 1314 1654 3026 142 276 0.400000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 116 Exomes transversion A T A>T 0.055 -0.602 189 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.A444T:p.A148A . . . 0.13180515 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 349.0 . . . . . . . . . . -0.3781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.56 0.21 182 ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0 0.0030 0 0.0003 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +rs76668291 4 9361045 T G - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361045 9361045 Chr4(GRCh37):g.9361045T>G 938 938 NR_046416.1:n.938T>G 1 607011 rs76668291 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4526 364 220 42 236 0 2802 678 184 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transversion T G T>G 0.000 0.125 111 PASS . . . . . . . . . . . . USP17L9P:uc031sdq.1:exon1:c.T937G:p.X313G . . . 1.0 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 12.0 . . . . . . . . . . -0.2888 . . . . . . . . 6.775e-05 . . . . . . . . . . . . . . . . . . . . stoploss . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.6 0.22 182 ENSG00000251694 USP17L9P USP17L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HOM . rs200700157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs76668291 rs200700157 1 1538 255 1.I 0,0,255 +rs762978371 4 9361049 T C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361049 9361049 Chr4(GRCh37):g.9361049T>C 942 942 NR_046416.1:n.942T>C 1 607011 0.000019 0.000978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000978 1 1 0 0 0 0 0 0 0 52024 1022 9544 1630 3194 8294 22366 4776 1198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.039 1.255 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . -0.1583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.57 0.23 182 ENSG00000251694 USP17L9P USP17L9P . uc031sdq.1:c.*2T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HOM . rs201639015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0027 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs76184877 rs201639015 1 1538 255 1.I 0,0,255 +rs62411732 4 9361199 G C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361199 9361199 Chr4(GRCh37):g.9361199G>C 1092 1092 NR_046416.1:n.1092G>C 1 607011 rs62411732 yes no Frequency 1 0.000000 0 0.000048 0.003012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003012 2 2 0 0 0 0 0 0 0 41558 664 7578 1504 2836 7584 16482 3956 954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.039 -0.360 205 PASS . . . . . . . . . . . . . . . . 0.3557126 . . @ 302 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 849.0 . . . . . . . . . . -0.0828 . . . . . . . . 8.539e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.64 0.18 182 ENSG00000251694 USP17L9P USP17L9P . uc031sdq.1:c.*152G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs62411732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0116 0.0009 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs62411732 rs142870324 1 1538 10 1/0 0,160,189 +rs141044478 4 9361342 C T - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361342 9361342 Chr4(GRCh37):g.9361342C>T 1235 1235 NR_046416.1:n.1235C>T 1 607011 rs141044478 no no 0 0.000000 0 0.000220 0.000000 0.000000 0.000000 0.002353 0.000000 0.000000 0.000000 0.000000 0.002353 4 0 0 0 4 0 0 0 0 18214 392 4308 624 1700 3246 6432 1006 506 0.000220 0.000000 0.000000 0.000000 0.002353 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 0.044 161 PASS . . . . . . . . . . . . . . . . 0.118906066 . . @ 100 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 841.0 . . . . . . . . . . -0.3856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.25 0.12 182 ENSG00000251694 USP17L9P USP17L9P . uc031sdq.1:c.*295C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . LowAF . rs141044478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0.0025 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-161 . . . . . . . . . . . . . rs67095153 rs141044478 rs141044478 1 1538 10 1/0 0,137,252 +rs62411704 4 9361398 G C - USP17L9P 12615 Ubiquitin specific peptidase 17-like family member 9, pseudogene NR_046416.1 1 1593 0 substitution exon GRCh37 9361398 9361398 Chr4(GRCh37):g.9361398G>C 1291 1291 NR_046416.1:n.1291G>C 1 607011 rs62411704 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11894 282 2708 246 1406 2024 4300 584 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 -0.117 246 PASS . . . . . . . . . . . . . . . . 0.29268292 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 533.0 . . . . . . . . . . -0.3450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.57 0.2 182 ENSG00000251694 USP17L9P USP17L9P . uc031sdq.1:c.*351G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs145274487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . rs145274487 rs145274487 1 1538 10 1/0 0,173,252 +rs9684394 (chr4:9364826 C/A) 4 9364826 C A Not on a known gene +. (chr4:9364921 T/C) 4 9364921 T C Not on a known gene +. (chr4:9364929 C/A) 4 9364929 C A Not on a known gene +. (chr4:9365298 A/T) 4 9365298 A T Not on a known gene +. (chr4:9365337 C/T) 4 9365337 C T Not on a known gene +rs140712318 (chr4:9365403 A/G) 4 9365403 A G Not on a known gene +rs145521455 (chr4:9365945 G/C) 4 9365945 G C Not on a known gene +. (chr4:9366030 A/T) 4 9366030 A T Not on a known gene +rs141564613 4 9369571 C A - USP17L6P 37179 Ubiquitin specific peptidase 17-like family member 6, pseudogene NR_027279.1 1 1197 0 substitution upstream GRCh37 9369571 9369571 Chr4(GRCh37):g.9369571C>A -29 -29 NR_027279.1:n.-29C>A p.? p.? 1 rs141564613 no no 0 0.000000 0 transversion C A C>A 0.047 -1.005 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 35.0 . . . . . . . . . . -0.5526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.67 0.24 182 ENSG00000205946 USP17L6P USP17L6P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141564613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs79488718 rs141564613 1 1538 10 1/0 0,255,255 +rs142309727 4 9369666 T C - USP17L6P 37179 Ubiquitin specific peptidase 17-like family member 6, pseudogene NR_027279.1 1 1197 0 substitution exon GRCh37 9369666 9369666 Chr4(GRCh37):g.9369666T>C 67 67 NR_027279.1:n.67T>C 1 rs142309727 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 1.093 237 PASS . . . . . . . . . . . . USP17L6P:uc011bws.2:exon1:c.T67C:p.S23P . . . 0.26436782 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . -0.2886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.55 0.2 182 ENSG00000205946 USP17L6P USP17L6P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET 0.27 rs142309727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs142309727 rs142309727 1 1538 10 1/0 0,245,255 +rs9684538 4 9369674 C A - USP17L6P 37179 Ubiquitin specific peptidase 17-like family member 6, pseudogene NR_027279.1 1 1197 0 substitution exon GRCh37 9369674 9369674 Chr4(GRCh37):g.9369674C>A 75 75 NR_027279.1:n.75C>A 1 rs9684538 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion C A C>A 0.000 -2.539 237 PASS . . . . . . . . . . . . USP17L6P:uc011bws.2:exon1:c.C75A:p.P25P . . . 0.26363635 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . . . . . . . . -0.8447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.55 0.14 182 ENSG00000205946 USP17L6P USP17L6P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs9684538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs145971315 rs145971315 1 1538 10 1/0 0,235,255 +. (chr4:9497485 G/A) 4 9497485 G A Not on a known gene +rs145979886 4 13601977 C A - BOD1L1 31792 Biorientation of chromosomes in cell division 1-like 1 NM_148894.2 -1 10542 9156 NP_683692.2 Q8NFC6 substitution missense exon GRCh37 13601977 13601977 Chr4(GRCh37):g.13601977C>A 6547 6547 NM_148894.2:c.6547G>T p.Val2183Phe p.Val2183Phe 10 616746 -1408 5' 86.1807 6.94726 0.952632 V.37 86.1807 6.94726 0.952632 V.37 0 Cryptic Donor Strongly Activated 13601983 0.029647 62.1619 0.818728 0.18882 67.1807 rs145979886 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.000000 0.000000 0.018800 0.002000 0.000000 0.003448 0.000042 0.000058 0.000000 0.019239 0.000260 0.001814 0.012992 0.002478 0.019239 954 1 2 0 363 8 229 335 16 276682 24028 34410 10140 18868 30782 126212 25786 6456 0.000080 0.000000 0.000000 0.000000 0.000530 0.000000 0.000000 0.000465 0.000000 11 0 0 0 5 0 0 6 0 932 1 2 0 353 8 229 323 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 80 transversion G T G>T 0.000 -1.489 V Val GTC 0.240 F Phe TTC 0.546 2183 14 9 Chicken 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Deleterious 0.04 III.82 good 1.531E-1 0.1339 255 PASS . 0.01 . 0.02 0.0026 . 0.0042 . 0.019 0.002 . ENSG00000038219:ENST00000040738:exon10:c.G6547T:p.V2183F . BOD1L1:NM_148894:exon10:c.G6547T:p.V2183F . . 0.48447204 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.217 . @ . . . . . 1 0.326 . . 161.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ttc|V2183F|BOD1L1|mRNA|CODING|NM_148894|NM_148894.ex.10) . 0.0003 0.0005 . 0.0003 0.0005 . -1.3634 -1.487 -1.363 c . . . . . 3.591e-03 . . . 0 0.0022 0.0002 0.0202 0.0132 0.0006 0.0070 0.0002 0 0.0037 8.917e-05 0.0195 0.0142 0.0024 0.0086 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.083 . . exonic exonic exonic . . 0.013 0.0042 . . . 0.46 0.32 182 ENSG00000038219 BOD1L1 BOD1L1 . . . 1.000 0.517 . 128 0.00196996 64976 107 0.00178375 59986 Likely_benign . 0 . 0.010 . . . . . . . . . 37 . 0.029 . . 0.215 . . . 0.488 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.368 . . 0 0 0 0 0 0 . 0.293 . . 0.236 . . . . . . 0 0.393 . . . . . 0.546 . 0.288 . HET 0.04 rs145979886 0.011 0.007 . . . . . 0.006868131868131868 0.0 0.0 0.022727272727272728 0.002638522427440633 XII.13 0.0 ENST00000040738 V.26 -7.37 . 0.100000 Q8NFC6 . . Name\x3dnsv4239 0.000308 . 0.163 . . . 0 0.0033 5.957e-05 0 0.0193 0.0134 0.0013 0.0022 0.0003 0.0001 0.0049 0 0 0.0185 0.0106 0.0053 0.0041 . . 0.730 . -1.336 -1.336000 . . 0.100000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.030 . 0.024 -1.336 -0.275 0.02 . . rs145979886 rs145979886 1 1538 10 1/0 0,239,255 +rs118191855 4 13604644 C T - BOD1L1 31792 Biorientation of chromosomes in cell division 1-like 1 NM_148894.2 -1 10542 9156 NP_683692.2 Q8NFC6 substitution missense exon GRCh37 13604644 13604644 Chr4(GRCh37):g.13604644C>T 3880 3880 NM_148894.2:c.3880G>A p.Glu1294Lys p.Glu1294Lys 10 616746 2065 3' 93.3947 10.0929 0.984041 8.56369 93.3947 10.0929 0.984041 8.56369 0 Cryptic Acceptor Strongly Activated 13604628 0.91543 0.00052 74.6238 1.39822 0.000635 74.6238 rs118191855 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.003000 0.002000 0.000000 0.002094 0.000042 0.000029 0.000000 0.000424 0.000032 0.001795 0.012799 0.001858 0.012799 580 1 1 0 8 1 227 330 12 276944 24026 34408 10146 18868 30782 126472 25784 6458 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000465 0.000000 6 0 0 0 0 0 0 6 0 568 1 1 0 8 1 227 318 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 96 transition G A G>A 0.024 0.609 E Glu GAA 0.417 K Lys AAA 0.425 1294 14 7 White-tuffed-ear marmoset 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Deleterious 0.04 IV.32 unknown 0.0 0.0 255 PASS . 0.0014 . 0.0017 0.0026 . 0.001 . 0.003 0.002 . ENSG00000038219:ENST00000040738:exon10:c.G3880A:p.E1294K . BOD1L1:NM_148894:exon10:c.G3880A:p.E1294K . . 0.32692307 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.489 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E1294K|BOD1L1|mRNA|CODING|NM_148894|NM_148894.ex.10) . 0.0003 0.0005 . 0.0003 0.0005 . -0.8572 -0.836 -0.857 c . . . . . 2.200e-03 . . . 0 0.0009 0 0.0009 0.0126 0.0006 0.0057 0 0 0.0022 0 0.0008 0.0139 0.0024 0.0072 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.080 . . exonic exonic exonic . . 0.344 0.0010 . . . 0.39 0.4 182 ENSG00000038219 BOD1L1 BOD1L1 . . . 0.999 0.383 . 108 0.00166215 64976 103 0.00171707 59986 Uncertain_significance . 0 . 0.244 . . . . . . . . . 37 . 0.054 . . 0.376 . . . 0.203 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.126 . . 0.121 . . . . . . 0 0.303 . . . . . 0.171 . 0.045 . HET 0.01 rs118191855 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0017482517482517483 0.002638522427440633 V.55 0.0 ENST00000040738 5.VII 3.VIII . 0.200000 Q8NFC6 . . Name\x3dnsv4239 0.000308 . 0.189 . . 3.VIII 0 0.0019 2.979e-05 0 0.0005 0.0132 0.0013 0.0015 3.249e-05 0.0001 0.0039 0 0 0 0.0103 0.0053 0.0041 . . 0.730 . 0.357 0.357000 . . 0.200000 . . 1.0E-255 0.009 0.180 . 0.211 0.039 . 0.292 . 0.130 0.357 -0.048 0.0026 . . rs118191855 rs118191855 1 1538 10 1/0 0,255,255 +rs189416213 4 15055880 T C - CPEB2 21745 Cytoplasmic polyadenylation element binding protein 2 NM_001177382.1 1 6878 3105 NP_001170853.1 substitution intron GRCh37 15055880 15055880 Chr4(GRCh37):g.15055880T>C 2461+39 2461+39 NM_001177382.1:c.2461+39T>C p.? p.? 8 8 610605 39 5' 94.6745 X.23 0.999005 0 94.6745 X.23 0.999005 0 0 rs189416213 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000259 0.000043 0.000000 0.000000 0.000000 0.000000 0.000453 0.000353 0.000335 0.000453 67 1 0 0 0 0 55 9 2 258716 23030 28958 9696 17378 26862 121332 25496 5964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 1 0 0 0 0 55 9 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4405 13001 4 1 5 0.000465116 0.000226963 0.000384438 0.000465116 0.000226963 0.000384438 73 transition T C T>C 0.000 0.367 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5588235 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0002 0.0004 0.0005 0.0002 0.0004 0.0005 . 0.6088 . . . . . . . . 2.683e-04 . . . 9.713e-05 0.0003 0 0 0.0011 0.0005 0.0014 0 0.0001 0.0002 0 0 0.0008 0.0003 0 0 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0002 . . . 0.65 0.23 182 ENSG00000249252 CPEB2 LOC101929095 . . . . . . 30 0.000461709 64976 29 0.000483446 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189416213 . . . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 6.993e-05 0.0003 0 0 0 0.0003 0.0005 0.0002 0 0 0.0003 0 0 0 0.0006 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs189416213 rs189416213 1 1538 10 1/0 0,255,255 +. 4 17817090 A G - NCAPG 24304 Non-SMC condensin I complex, subunit G NM_022346.4 1 4753 3048 NP_071741.2 Q9BPX3 substitution intron GRCh37 17817090 17817090 Chr4(GRCh37):g.17817090A>G 775+109 775+109 NM_022346.4:c.775+109A>G p.? p.? 5 5 606280 109 5' 94.6711 X.63 0.994599 1.14118 94.6711 X.63 0.994599 1.14118 0 transition A G A>G 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5681818 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.1418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000109805 NCAPG NCAPG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv878721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139070230 4 20715142 C G - PACRGL 28442 PARK2 co-regulated like NM_001258345.1 1 2154 747 NP_001245274.1 Q8N7B6 substitution missense exon GRCh37 20715142 20715142 Chr4(GRCh37):g.20715142C>G 589 589 NM_001258345.1:c.589C>G p.Leu197Val p.Leu197Val 7 -21 5' 77.4215 10.0718 0.991836 2.47524 77.4215 10.0718 0.991836 2.47219 0 Parkin co-regulated protein Armadillo-type fold rs139070230 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001871 0.000458 0.000904 0.018624 0.000000 0.000130 0.002133 0.000155 0.001396 0.018624 518 11 31 189 0 4 270 4 9 276906 24028 34310 10148 18868 30768 126576 25760 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 518 11 31 189 0 4 270 4 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8568 4404 12972 32 2 34 0.00372093 0.000453926 0.00261418 0.00372093 0.000453926 0.00261418 188 COSM3696600 Large intestine 0.000448 2231 transversion C G C>G 1.000 0.770 L Leu CTG 0.404 V Val GTG 0.468 197 12 11 Frog 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 35.68 26.34 Tolerated 0.06 III.34 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.56666666 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.679 . @ . . . . . 1 0.791 . . 30.0 . . . 0.0005 0.0026 0.0037 0.0005 0.0026 0.0037 . 0.2071 0.182 0.207 c . . . . . 2.044e-03 . . . 0.0006 0.0023 0.0012 0 0.0003 0.0044 0.0028 0.0001 0.0007 0.0020 0.0012 0 0.0002 0.0034 0.0014 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.714 . . exonic exonic exonic . . 0.331 0.0006 . . . 0.29 0.39 182 ENSG00000163138 PACRGL PACRGL . . . 0.000 0.062 . 140 0.00215464 64976 137 0.00228387 59986 Uncertain_significance . 0 . 0.436 . . . . D 0.761 0.093 . . 37 . 0.782 . . 0.686 . . . 0.803 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.519 . . 0 0 0 0 0 0 . 0.647 . . 0.639 . . . . . . 0 0.721 . . . . . 0.247 . 0.652 . HET 0 rs139070230 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 7.1691 5.35E-4 . V.64 II.95 . 0.030000 . . . Name\x3dnsv829876 0.002614 . 0.484 . . II.95 0.0005 0.0020 0.0009 0.0188 0 0.0001 0.0022 0.0016 0.0001 0.0005 0.0010 0.0024 0.0132 0 0.0003 0.0013 0 . . 0.609 . 0.748 0.748000 . . 0.030000 . . 1.0E-255 0.998 0.411 . 0.625 1.000 . 0.334 . 0.177 0.748 0.871 0.0037 . . rs139070230 rs139070230 1 1538 10 1/0 0,255,255 +. 4 25235722 A C - PI4K2B 18215 Phosphatidylinositol 4-kinase type 2 beta NM_018323.3 1 3601 1446 NP_060793.2 Q8TCG2 substitution 5'UTR GRCh37 25235722 25235722 Chr4(GRCh37):g.25235722A>C -64 -64 NM_018323.3:c.-64A>C p.? p.? 1 612101 -332 5' 79.5234 7.74728 0.92851 10.846 79.5234 7.74728 0.92851 10.846 0 rs953814942 yes no Frequency 1 A 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000288 0.000000 0.000288 2 0 0 0 0 0 1 1 0 30892 8694 834 302 1620 0 14986 3478 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion A C A>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.61904764 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . UTR_5_PRIME(MODIFIER||||PI4K2B|mRNA|CODING|NM_018323|NM_018323.ex.1) . . . . . . . 0.5628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000038210 PI4K2B PI4K2B ENST00000264864:c.-64A>C uc003grk.2:c.-64A>C NM_018323:c.-64A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.474e-05 0 0 0 0.0003 6.673e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs138146690 4 38879759 G C - FAM114A1 25087 Family with sequence similarity 114 member A1 NM_138389.3 1 4138 1692 NP_612398.2 Q8IWE2 substitution missense exon GRCh37 38879759 38879759 Chr4(GRCh37):g.38879759G>C 60 60 NM_138389.3:c.60G>C p.Met20Ile p.Met20Ile 3 68 3' 77.5899 6.25386 0.397067 1.90468 77.5899 6.25386 0.397067 1.78219 0 rs138146690 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000040 0.000042 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000079 11 1 0 0 0 0 10 0 0 277152 24038 34410 10142 18868 30774 126684 25772 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4585064 Bone 0.001757 569 transversion G C G>C 0.559 0.851 M Met ATG 1.000 I Ile ATC 0.481 20 12 7 Chicken 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.14 III.19 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . FAM114A1:NM_138389:exon3:c.G60C:p.M20I . . 0.43209878 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.258 . @ . . . . . 1 0.447 . . 81.0 . . . . . . . . . . -0.3143 -0.254 -0.314 c . . . . . 3.946e-05 . . . 9.63e-05 5.54e-05 0 0 0 9.529e-05 0 0 0 1.892e-05 0 0 0 3.691e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.272 . . exonic exonic exonic . . 0.330 0.0002 . . . 0.26 0.11 182 ENSG00000197712 FAM114A1 FAM114A1 . . . 0.918 0.265 . . . . . . . Uncertain_significance . 0 . 0.256 . . . . T 0.127 0.005 . . 37 . 0.226 . . 0.220 . . . 0.246 0.389 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.692 . . 0 0 0 0 0 0 . 0.158 . . 0.166 . . . . . . 1 0.506 . . . . . 0.174 . 0.211 . HET 0.01 rs138146690 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 V.11 . . 4.VII II.94 . 0.040000 Q8IWE2 . . . . . 0.413 . . II.94 6.534e-05 4.062e-05 0 0 0 0 8.059e-05 0 0 0 3.229e-05 0 0 0 0 6.665e-05 0 . . 0.609 . 0.678 0.678000 . . 0.040000 . . 1.0E-255 0.970 0.340 . 0.352 0.109 . 0.475 . 0.713 0.678 0.917 0.0013 . . rs138146690 rs138146690 1 1538 10 1/0 0,255,255 +rs41547922 4 39297211 C T - RFC1 9969 Replication factor C (activator 1) 1, 145kDa NM_001204747.1 -1 4899 3447 NP_001191676.1 P35251 substitution intron GRCh37 39297211 39297211 Chr4(GRCh37):g.39297211C>T 2957+23 2957+23 NM_001204747.1:c.2957+23G>A p.? p.? 22 22 102579 23 5' 89.9194 X.02 0.949751 5.14236 89.9194 X.02 0.949751 4.80184 0 New Acceptor Site 39297209 7.36261 0.600122 92.3394 rs41547922 yes no Frequency/1000G 2 C 0.000000 0 0.003994 0.000000 0.002000 0.000000 0.008000 0.014400 0.005991 0.001421 0.005984 0.017037 0.000000 0.003483 0.007709 0.004074 0.008847 0.017037 1530 33 171 155 0 90 926 103 52 255396 23220 28574 9098 17376 25842 120124 25284 5878 0.000031 0.000000 0.000070 0.000220 0.000000 0.000000 0.000033 0.000000 0.000000 4 0 1 1 0 0 2 0 0 1522 33 169 153 0 90 922 103 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4400 12925 75 6 81 0.00872093 0.00136178 0.00622789 0.00872093 0.00136178 0.00622789 85 transition G A G>A 0.000 -0.198 255 PASS . 0.01 0.02 . 0.01 . 0.004 0.014 . 0.008 0.002 . . . . . 0.44827586 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . 0.0014 0.0062 0.0087 0.0014 0.0062 0.0087 . -0.1030 . . . . . . . . 6.078e-03 . . . 0.0012 0.0065 0.0071 0 0.0047 0.0093 0.0115 0.0044 0.0011 0.0061 0.0069 0 0.0041 0.0084 0.0103 0.0044 . . . . . . intronic intronic ncRNA_intronic . . . 0.0040 . . . 0.39 0.08 182 ENSG00000035928 RFC1 MIR1273H . . . . . . 405 0.00623307 64976 385 0.00641816 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41547922 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv878940 0.006228 . . . . . 0.0010 0.0061 0.0059 0.0173 0 0.0039 0.0079 0.0088 0.0035 0.0021 0.0049 0.0072 0.0099 0 0.0052 0.0065 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs41547922 rs41547922 rs41547922 rs41547922 1 1538 10 1/0 0,255,255 +. 4 39918660 A C - PDS5A 29088 PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) NM_001100399.1 -1 7176 4014 NP_001093869.1 Q29RF7 substitution intron GRCh37 39918660 39918660 Chr4(GRCh37):g.39918660A>C 876+8 876+8 NM_001100399.1:c.876+8T>G p.? p.? 8 8 613200 8 5' 94.3644 X.71 0.998108 1.65911 94.3644 X.71 0.997806 II.52 -0.000100857 transversion T G T>G 0.024 0.609 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.9537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000121892 PDS5A PDS5A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.016 . . . . . . III.76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201142775 (chr4:49504178 A/G) 4 49504178 A G Not on a known gene +rs879244069 (chr4:49506336 C/T) 4 49506336 C T Not on a known gene +rs879130281 (chr4:49506338 G/T) 4 49506338 G T Not on a known gene +rs879178457 (chr4:49506375 T/C) 4 49506375 T C Not on a known gene +rs191202834 4 54324812 A C - FIP1L1 19124 FIP1 like 1 (S. cerevisiae) NM_030917.3 1 2458 1785 NP_112179.2 Q6UN15 substitution intron GRCh37 54324812 54324812 Chr4(GRCh37):g.54324812A>C 1500-8 1500-8 NM_030917.3:c.1500-8A>C p.? p.? 17 16 607686 -8 3' 85.8402 8.69227 0.826257 5.35485 89.1287 9.19115 0.964884 6.91961 0.0878268 Cryptic Acceptor Strongly Activated 54324820 8.69227 0.826257 85.8402 9.19115 0.964884 89.1287 rs191202834 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.002300 0.001000 0.000000 0.004000 0.000000 0.004280 0.001132 0.002829 0.010334 0.000000 0.001789 0.006612 0.000973 0.006289 0.010334 1168 27 95 102 0 54 825 25 40 272878 23850 33580 9870 18570 30180 124782 25686 6360 0.000051 0.000000 0.000000 0.000000 0.000000 0.000133 0.000080 0.000000 0.000000 7 0 0 0 0 2 5 0 0 1154 27 95 102 0 50 815 25 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4400 12957 41 6 47 0.00476855 0.00136178 0.00361427 0.00476855 0.00136178 0.00361427 56 transversion A C A>C 0.000 -1.167 255 PASS . 0.0009 . . 0.0026 0.0023 0.0016 . . 0.004 0.001 . . . . . 0.6 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0014 0.0036 0.0048 0.0014 0.0036 0.0048 . -0.3037 . . . . . . . . 4.499e-03 . . . 0.0012 0.0042 0.0031 0 0.0013 0.0069 0.0072 0.0018 0.0012 0.0046 0.0031 0 0.0012 0.0074 0.0029 0.0018 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.55 0.22 182 ENSG00000145216 . FIP1L1 . . . . . . 281 0.00432467 64976 273 0.00455106 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs191202834 . . . . . . . . . . . . . . . . . . . . 0 0.004 . 0.003614 . . . . . 0.0013 0.0044 0.0028 0.0101 0 0.0011 0.0067 0.0063 0.0018 0.0009 0.0037 0.0036 0.0166 0 0.0003 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0048 . . rs191202834 rs191202834 1 1538 10 1/0 0,255,255 +rs191202834 4 54324812 A C - LNX1 6657 Ligand of numb-protein X 1, E3 ubiquitin protein ligase NM_001126328.2 -1 3109 2187 NP_001119800.1 Q8TBB1 substitution downstream GRCh37 54324812 54324812 Chr4(GRCh37):g.54324812A>C *2262 *2262 NM_001126328.2:c.*2262T>G p.? p.? 11 609732 2398 3' 89.6117 XI.26 0.997051 XI.64 89.6117 XI.26 0.997051 XI.64 0 rs191202834 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.002300 0.001000 0.000000 0.004000 0.000000 0.004280 0.001132 0.002829 0.010334 0.000000 0.001789 0.006612 0.000973 0.006289 0.010334 1168 27 95 102 0 54 825 25 40 272878 23850 33580 9870 18570 30180 124782 25686 6360 0.000051 0.000000 0.000000 0.000000 0.000000 0.000133 0.000080 0.000000 0.000000 7 0 0 0 0 2 5 0 0 1154 27 95 102 0 50 815 25 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4400 12957 41 6 47 0.00476855 0.00136178 0.00361427 0.00476855 0.00136178 0.00361427 56 transversion T G T>G 0.000 -1.167 255 PASS . 0.0009 . . 0.0026 0.0023 0.0016 . . 0.004 0.001 . . . . . 0.6 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0014 0.0036 0.0048 0.0014 0.0036 0.0048 . -0.3037 . . . . . . . . 4.499e-03 . . . 0.0012 0.0042 0.0031 0 0.0013 0.0069 0.0072 0.0018 0.0012 0.0046 0.0031 0 0.0012 0.0074 0.0029 0.0018 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.55 0.22 182 ENSG00000145216 . FIP1L1 . . . . . . 281 0.00432467 64976 273 0.00455106 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs191202834 . . . . . . . . . . . . . . . . . . . . 0 0.004 . 0.003614 . . . . . 0.0013 0.0044 0.0028 0.0101 0 0.0011 0.0067 0.0063 0.0018 0.0009 0.0037 0.0036 0.0166 0 0.0003 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0048 . . rs191202834 rs191202834 1 1538 10 1/0 0,255,255 +rs145959811 4 56878116 G A - CEP135 29086 Centrosomal protein 135kDa NM_025009.4 1 5735 3423 NP_079285.2 Q66GS9 substitution missense exon GRCh37 56878116 56878116 Chr4(GRCh37):g.56878116G>A 2767 2767 NM_025009.4:c.2767G>A p.Glu923Lys p.Glu923Lys 21 611423 -36 5' 79.2237 7.95527 0.863653 1.72865 79.2237 7.95527 0.863653 1.49924 0 rs145959811 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.004000 0.001400 0.001504 0.000311 0.000589 0.000112 0.000000 0.000317 0.002528 0.001419 0.001591 0.002528 374 7 16 1 0 8 297 36 9 248736 22478 27154 8938 16406 25260 117474 25368 5658 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 2 0 0 0 0 0 2 0 0 370 7 16 1 0 8 293 36 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4405 12978 27 1 28 0.00313953 0.000226963 0.00215285 0.00313953 0.000226963 0.00215285 56 RCV000193492.1 germline clinical testing VUS 1 not specified transition G A G>A 1.000 5.290 E Glu GAA 0.417 K Lys AAA 0.425 923 11 10 Fruitfly 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C15 44.60 56.87 Deleterious 0.02 III.32 255 PASS 0.002 0.0023 0.0028 . 0.004 0.0008 0.0012 0.0014 . 0.004 . ENSG00000174799:ENST00000257287:exon21:c.G2767A:p.E923K . CEP135:NM_025009:exon21:c.G2767A:p.E923K . . 0.38297874 . . germline 18 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.952 . Uncertain//\@significance Uncertain_significance RCV000193492.1 not_specified MedGen CN169374 1 0.996 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E923K|CEP135|mRNA|CODING|NM_025009|NM_025009.ex.21) 0.0002 0.0022 0.0031 0.0002 0.0022 0.0031 . 0.8289 0.817 0.829 c . . . . . 1.729e-03 . . . 0.0002 0.0017 0.0004 0 0.0021 0.0031 0.0014 0.0004 0.0001 0.0015 0.0004 0 0.0021 0.0025 0.0030 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.140 . . exonic exonic exonic . . 0.883 0.0012 . . . 0.47 0.39 182 ENSG00000174799 CEP135 CEP135 . . . 1.000 0.747 . 236 0.00363211 64976 230 0.00383423 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.610 0.043 . . 37 . 0.394 . . 0.027 . . . 0.702 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.615 . . 0 0 0 0 1 0 . 0.715 . . 0.662 . . . . . . 0 0.682 . . . . . 0.982 . 0.592 . HET 0.03 rs145959811 . . . . . . . 0.0022893772893772895 0.0020325203252032522 0.0027624309392265192 0.0 0.00395778364116095 20.181 2.68E-4 ENST00000257287 V.69 V.69 . 0.210000 Q66GS9 . . . 0.002153 . 0.816 . . V.69 0.0003 0.0015 0.0006 0.0001 0 0.0015 0.0025 0.0017 0.0003 0.0003 0.0015 0.0012 0 0 0.0011 0.0024 0.0010 . . 0.924 . 2.840 2.840000 . . 0.210000 . . 1.0E-255 1.000 0.715 . 0.653 0.997 . 0.763 . 0.551 2.840 0.917 0.004 . . rs145959811 rs145959811 1 1538 10 1/0 0,255,255 +rs536545335 4 71227922 C G - SMR3A 19216 Submaxillary gland androgen regulated protein 3A NM_012390.3 1 598 405 NP_036522.3 Q99954 substitution intron GRCh37 71227922 71227922 Chr4(GRCh37):g.71227922C>G 54+36 54+36 NM_012390.3:c.54+36C>G p.? p.? 2 2 36 5' 78.6431 9.49083 0.951872 3.08949 78.6431 9.49083 0.951872 3.06038 0 New Acceptor Site 71227923 4.03381 0.62566 71.3646 rs536545335 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000800 0.004100 0.002000 0.001000 0.000000 0.000777 0.000462 0.002554 0.000312 0.001594 0.000406 0.000431 0.000355 0.001114 0.002554 209 11 85 3 29 12 53 9 7 269006 23816 33278 9626 18188 29522 122926 25364 6286 0.000007 0.000000 0.000000 0.000000 0.000110 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 207 11 85 3 27 12 53 9 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 238 PASS . . . . . 0.0008 0.0016 . 0.002 0.001 0.0041 . . . . . 0.26984128 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||SMR3A|mRNA|CODING|NM_012390|) . . . . . . . -0.1547 . . . . . . . . 1.444e-03 . . . 0.0004 0.0012 0.0041 0.0053 0.0003 0.0004 0.0014 0.0004 0.0002 0.0011 0.0040 0.0038 0.0003 0.0005 0.0015 0.0004 . . . . . . intronic intronic intronic . . . 0.0016 . . . . . . ENSG00000109208 . SMR3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536545335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0008 0.0025 0.0003 0.0017 0.0004 0.0005 0.0011 0.0004 0.0006 0.0004 0.0049 0 0.0006 0 6.694e-05 0.0010 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs202206824 4 71275790 T C - OPRPN 17279 Opiorphin prepropeptide NM_021225.4 1 1043 747 NP_067048.4 Q99935 substitution stop loss exon GRCh37 71275790 71275790 Chr4(GRCh37):g.71275790T>C 745 745 NM_021225.4:c.745T>C p.*249Argext*5 p.*249Argext*5 3 608936 694 3' 88.0771 XI.33 0.95351 8.96407 88.0771 XI.33 0.95351 8.96407 0 rs202206824 yes no Frequency 1 T 0.000000 0 0.000302 0.000043 0.000000 0.000000 0.000000 0.000000 0.000502 0.000454 0.000411 0.000502 66 1 0 0 0 0 53 10 2 218444 23208 23726 4976 16968 17176 105516 22006 4868 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 66 1 0 0 0 0 53 10 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.198 * * TGA 0.489 R Arg CGA 0.110 249 255 PASS . . . . . . . . . . . ENSG00000171199:ENST00000399575:exon3:c.T745C:p.X249R PROL1:uc003hfi.3:exon3:c.T745C:p.X249R PROL1:NM_021225:exon3:c.T745C:p.X249R . . 0.375 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.290 . @ . . . . . 0 0.081 . . 64.0 . . . . . . . . . . -0.0012 -0.446 -0.001 c . . . . . 1.840e-04 . . . 0.0001 0.0001 0 0 0.0005 0.0002 0 0 0 0.0002 0 0 0.0005 0.0002 0 0 stoploss stoploss stoploss . . . exonic exonic exonic . . 0.089 @ . . . 0.17 0.24 182 ENSG00000171199 PROL1 PROL1 . . . 0.000 0.029 . 5 7.69515e-05 64976 5 8.33528e-05 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.006 . . . HET . rs202206824 . . . . . . . . . . . . 0.5424 . ENST00000399575 2.IX -1.25 . . . . . . . . 0.050 . . . 6.908e-05 0.0001 0 0 0 0.0004 0.0002 0.0005 0 0 0.0012 0 0 0 0.0009 0.0023 0 . . 0.009 . -0.210 -0.210000 . . . . . 1.0E-255 0.000 0.063 . 0.126 0.087 . 0.096 . 0.425 -0.210 0.673 . . . rs202206824 rs202206824 1 1538 10 1/0 0,255,255 +. 4 71607237 CTCCCTTTCAGTTA C - RUFY3 30285 RUN and FYVE domain containing 3 NM_001037442.3 1 4558 1863 NP_001032519.1 deletion intron GRCh37 71607245 71607257 Chr4(GRCh37):g.71607245_71607257del 178+18777 178+18789 NM_001037442.3:c.178+18777_178+18789del p.? p.? 1 1 611194 18777 5' 84.5009 IX.03 0.953885 6.23634 84.5009 IX.03 0.953885 6.23634 0 CAGTTATCCCTTT 255 Pass . . . . . . . . . . . . . . . . 0.34375 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000018189 RUFY3 RUFY3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +rs145185829 4 74316431 A G - AFP 317 Alpha fetoprotein NM_001134.2 1 2039 1830 NP_001125.1 P02771 substitution synonymous exon GRCh37 74316431 74316431 Chr4(GRCh37):g.74316431A>G 1389 1389 NM_001134.2:c.1389A>G p.Gln463= p.Gln463Gln 11 104150 -40 5' 83.6687 X.37 0.979899 8.35482 83.6687 X.37 0.979899 8.47315 0 Serum albumin, N-terminal Serum albumin-like Serum albumin/Alpha-fetoprotein rs145185829 yes no Frequency 1 A 0.000000 0 0.000274 0.000042 0.000698 0.000000 0.000053 0.000000 0.000387 0.000000 0.000155 0.000698 76 1 24 0 1 0 49 0 1 276982 24030 34396 10140 18866 30780 126516 25790 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 1 24 0 1 0 49 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 122 transition A G A>G 0.866 -1.328 Q Gln CAA 0.256 Q Gln CAG 0.744 463 255 PASS . . . . . . . . . . . . . AFP:NM_001134:exon11:c.A1389G:p.Q463Q . . 0.45454547 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q463|AFP|mRNA|CODING|NM_001134|NM_001134.ex.11) . 0.0002 0.0002 . 0.0002 0.0002 . 0.7227 . . . . . . . . 2.604e-04 . . . 9.634e-05 0.0003 0.0006 0.0002 0 0.0005 0 0 0.0001 0.0002 0.0006 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.38 182 ENSG00000081051 AFP AFP . . . . . . 9 0.000138513 64976 9 0.000150035 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145185829 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 6.535e-05 0.0003 0.0007 0 5.798e-05 0 0.0004 0.0002 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs145185829 rs145185829 1 1538 10 1/0 0,255,255 +. 4 74464286 T TGT - RASSF6 20796 Ras association (RalGDS/AF-6) domain family member 6 NM_201431.2 -1 5926 1110 NP_958834.1 Q6ZTQ3 duplication intron GRCh37 74464285 74464286 Chr4(GRCh37):g.74464286_74464287dup 240+70 240+71 NM_201431.2:c.240+70_240+71dup p.? p.? 3 3 612620 71 5' 91.1667 9.84565 0.998056 0 91.1667 9.84565 0.998056 0 0 rs10632092 yes no Frequency/1000G 2 0.000000 0 0.608826 0.490200 0.594100 0.663700 0.679900 0.672900 0.862208 0.691583 0.887283 0.826389 0.991905 0.000000 0.936984 0.902473 0.918301 0.991905 25411 5949 614 238 1593 0 13620 2554 843 29472 8602 692 288 1606 0 14536 2830 918 0.437566 0.345772 0.439739 0.403361 0.495920 0.000000 0.468282 0.446750 0.459075 11119 2057 270 96 790 0 6378 1141 387 2248 1328 50 21 6 0 564 233 46 0 0 0 0 0 0 0 0 0 PASS 43 Genomes CA 255 Pass . . . . . . . . . . . . . . . . 0.7419355 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000169435 RASSF6 RASSF6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,13 +rs777652310 4 76516959 G C - CDKL2 1782 Cyclin-dependent kinase-like 2 (CDC2-related kinase) NM_003948.3 -1 4715 1482 NP_003939.1 Q92772 substitution intron GRCh37 76516959 76516959 Chr4(GRCh37):g.76516959G>C 1416+4472 1416+4472 NM_003948.3:c.1416+4472C>G p.? p.? 10 10 603442 4472 5' 75.2248 7.78713 0.952999 0 75.2248 7.78713 0.952999 0 0 rs777652310 yes no Frequency 1 G 0.000000 0 0.000397 0.000000 0.000000 0.000000 0.000000 0.000000 0.000634 0.002140 0.000472 0.002140 59 0 0 0 0 0 39 18 2 148598 14658 21008 7320 10978 20460 61526 8412 4236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 0 0 0 0 0 39 18 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.44117647 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||CDKL2|mRNA|CODING|NM_003948|) . . . . . . . 0.2990 . . . . . . . . 1.730e-04 . . . 0 8.919e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000138769 CDKL2 CDKL2 . . . . . . 30 0.000461709 64976 30 0.000500117 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs777652310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.13 0 0.0003 0 0 0 0.0026 0.0006 0 0 0 0.0006 0 0 0 0.0014 0.0009 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs150366861 4 77818958 G A - SOWAHB 32958 Sosondowah ankyrin repeat domain family member B NM_001029870.2 -1 3775 2382 NP_001025041.1 A6NEL2 substitution synonymous exon GRCh37 77818958 77818958 Chr4(GRCh37):g.77818958G>A 45 45 NM_001029870.2:c.45C>T p.Cys15= p.Cys15Cys 1 rs150366861 yes no Frequency/1000G 2 G 0.000000 0 0.004593 0.000800 0.003100 0.000000 0.010900 0.011500 0.005313 0.000644 0.003672 0.002590 0.000000 0.004553 0.007755 0.005676 0.006331 0.007755 1405 15 126 26 0 140 961 97 40 264428 23290 34318 10038 18708 30746 123922 17088 6318 0.000098 0.000000 0.000000 0.000199 0.000000 0.000130 0.000097 0.000351 0.000317 13 0 0 1 0 2 6 3 1 1379 15 126 24 0 136 949 91 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4381 12886 67 5 72 0.00781615 0.00113999 0.00555641 0.00781615 0.00113999 0.00555641 22 transition C T C>T 1.000 1.497 C Cys TGC 0.552 C Cys TGT 0.448 15 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.0046 0.011 . 0.011 0.0031 ENSG00000186212:ENST00000334306:exon1:c.C45T:p.C15C SOWAHB:uc003hki.3:exon1:c.C45T:p.C15C SOWAHB:NM_001029870:exon1:c.C45T:p.C15C . . 0.5448276 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 145.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C15|SOWAHB|mRNA|CODING|NM_001029870|NM_001029870.ex.1) 0.0011 0.0056 0.0078 0.0011 0.0056 0.0078 . I.38 . . . . . . . . 5.461e-03 . . . 0.0006 0.0056 0.0034 0 0.0035 0.0090 0.0063 0.0042 0.0006 0.0056 0.0034 0 0.0038 0.0084 0.0061 0.0043 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.25 0.41 182 ENSG00000186212 SOWAHB SOWAHB . . . . . . 472 0.00726422 64976 449 0.00748508 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150366861 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.005556 . . . . 4.VII 0.0006 0.0054 0.0037 0.0026 0 0.0054 0.0079 0.0062 0.0046 0.0007 0.0045 0.0024 0.0033 0 0.0069 0.0065 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs150366861 rs150366861 1 1538 10 1/0 0,250,255 +rs76033792 4 79833281 A T - BMP2K 18041 BMP2 inducible kinase NM_198892.1 1 3806 3486 NP_942595.1 Q9NSY1 substitution 3'UTR GRCh37 79833281 79833281 Chr4(GRCh37):g.79833281A>T *94 *94 NM_198892.1:c.*94A>T p.? p.? 16 617648 1518 3' 86.6281 8.95575 0.864744 3.35744 86.6281 8.95575 0.864744 3.35744 0 Cryptic Acceptor Strongly Activated 79833295 3.86568 0.070897 79.2687 5.61876 0.276182 82.3844 rs76033792 yes no Frequency/1000G 2 A 0.000000 0 0.076478 0.001500 0.105300 0.223200 0.033800 0.027400 transversion A T A>T 0.646 0.770 255 PASS . . . . . 0.0015 0.076 0.027 0.22 0.034 0.11 . . . . . 0.42857143 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . UTR_3_PRIME(MODIFIER||||BMP2K|mRNA|CODING|NM_198892|NM_198892.ex.16) . . . . . . . 0.7282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0765 . . . 0.63 0.62 182 . . BMP2K . uc003hlk.3:c.*94A>T\x3buc010ijm.2:c.*94A>T NM_198892:c.*94A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76033792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.61 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76033792 rs76033792 1 1538 10 1/0 0,255,255 +rs76520492 4 79833282 T A - BMP2K 18041 BMP2 inducible kinase NM_198892.1 1 3806 3486 NP_942595.1 Q9NSY1 substitution 3'UTR GRCh37 79833282 79833282 Chr4(GRCh37):g.79833282T>A *95 *95 NM_198892.1:c.*95T>A p.? p.? 16 617648 1519 3' 86.6281 8.95575 0.864744 3.35744 86.6281 8.95575 0.864744 3.35744 0 rs76520492 yes no Frequency/1000G 2 T 0.000000 0 0.076478 0.001500 0.105300 0.223200 0.033800 0.027400 transversion T A T>A 0.528 0.125 255 PASS . . . . . 0.0015 0.076 0.027 0.22 0.034 0.11 . . . . . 0.44186047 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . UTR_3_PRIME(MODIFIER||||BMP2K|mRNA|CODING|NM_198892|NM_198892.ex.16) . . . . . . . 0.5792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0765 . . . 0.57 0.71 182 . . BMP2K . uc003hlk.3:c.*95T>A\x3buc010ijm.2:c.*95T>A NM_198892:c.*95T>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76520492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76520492 rs76520492 1 1538 10 1/0 0,255,255 +rs79980998 4 79833283 T C - BMP2K 18041 BMP2 inducible kinase NM_198892.1 1 3806 3486 NP_942595.1 Q9NSY1 substitution 3'UTR GRCh37 79833283 79833283 Chr4(GRCh37):g.79833283T>C *96 *96 NM_198892.1:c.*96T>C p.? p.? 16 617648 1520 3' 86.6281 8.95575 0.864744 3.35744 86.6281 8.95575 0.864744 3.35744 0 rs79980998 yes no Frequency/1000G 2 T 0.000000 0 0.076478 0.001500 0.105300 0.223200 0.033800 0.027400 transition T C T>C 0.535 0.448 255 PASS . . . . . 0.0015 0.076 0.027 0.22 0.034 0.11 . . . . . 0.44186047 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . UTR_3_PRIME(MODIFIER||||BMP2K|mRNA|CODING|NM_198892|NM_198892.ex.16) . . . . . . . 0.5764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0765 . . . 0.6 0.7 182 . . BMP2K . uc003hlk.3:c.*96T>C\x3buc010ijm.2:c.*96T>C NM_198892:c.*96T>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79980998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79980998 rs79980998 1 1538 10 1/0 0,255,255 +rs6831595 (chr4:84376743 A/T) 4 84376743 A T Transcript NM_133636.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) HELQ +rs6831595 4 84376743 A T - MRPS18C 16633 Mitochondrial ribosomal protein S18C NM_016067.3 1 1101 429 NP_057151.1 Q9Y3D5 substitution upstream GRCh37 84376743 84376743 Chr4(GRCh37):g.84376743A>T -488 -488 NM_016067.3:c.-488A>T p.? p.? 1 611983 -588 5' 73.8689 6.23231 0.876833 3.52735 73.8689 6.23231 0.876833 3.52735 0 rs6831595 yes no Frequency/1000G 2 T 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999982 1.000000 1.000000 1.000000 1.000000 1.000000 0.999961 1.000000 1.000000 1.000000 277183 24028 34418 10150 18866 30782 126681 25790 6468 277188 24028 34418 10150 18866 30782 126686 25790 6468 0.999964 1.000000 1.000000 1.000000 1.000000 1.000000 0.999921 1.000000 1.000000 138589 12014 17209 5075 9433 15391 63338 12895 3234 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 1 0 1 8599 4406 13005 0.000116279 0 7.68876e-05 0.999884 1 0.999923 108 transversion A T A>T 0.000 -0.924 111 PASS 0.97 0.98 0.99 0.98 0.99 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 138 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.046 . . 138.0 . . . 1. 1. 1. 1. 1. 1. . -1.8477 -1.815 -1.848 c . . . . . 1.000 . . . 1 1.0000 1 1 1 1.0000 1 1 1 1.0000 1 1 1 1.0000 1 1 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.606 . . exonic exonic exonic . . 0.045 0.0000 . . . 0.27 0.27 182 ENSG00000163312 HELQ HELQ . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.013 . . . . . . . . . 37 . 0.000 . . 0.385 . . . 0.008 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.014 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.091 . 0.089 . HOM 0.79 rs6831595 0.772 0.775 . . . . . 0.9835164835164835 0.9735772357723578 0.988950276243094 0.9790209790209791 0.9907651715039578 4.0141 1.0 . 5.III -3.44 . 1.000000 . . . . 0.999923 . 0.010 . . . 1 1.0000 1 1 1 1 1.0000 1 1 1 1.0000 1 1 1 1 0.9999 1 . . 0.072 . -0.807 -0.807000 . . 1.000000 . . 1.0E-111 0.000 0.063 . 0.016 0.033 . 0.051 . 0.039 -0.807 0.061 1. rs6831595 rs6831595 rs6831595 rs6831595 1 1538 255 1.I 0,0,255 +. (chr4:88813270 C/CCAAT) 4 88813270 C CCAAT No Alamut gene - other known genes: HSP90AB3P HSP90AB3P +rs3729651 (chr4:88813271 A/T) 4 88813271 A T No Alamut gene - other known genes: HSP90AB3P HSP90AB3P +rs3219193 4 89053141 C T - ABCG2 74 ATP binding cassette subfamily G member 2 (Junior blood group) NM_001348985.1 -1 4728 1968 NP_001335914.1 Q9UNQ0 substitution intron GRCh37 89053141 89053141 Chr4(GRCh37):g.89053141C>T 264-72 264-72 NM_001348985.1:c.264-72G>A p.? p.? 5 4 603756 -72 3' 85.0733 10.1364 0.957057 7.54764 85.0733 10.1364 0.957057 7.42636 0 rs3219193 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.005639 0.001148 0.002392 0.000000 0.000000 0.000000 0.009172 0.006045 0.004107 0.009172 174 10 2 0 0 0 137 21 4 30856 8712 836 302 1622 0 14936 3474 974 0.005747 0.000000 0.000000 0.000000 0.000000 0.000000 0.007299 0.000000 0.000000 1 0 0 0 0 0 1 0 0 172 10 2 0 0 0 135 21 4 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.117 255 PASS . 0.0018 . . 0.01 . 0.001 0.0014 . 0.004 . . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . 0.1520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.32 0.27 182 ENSG00000118777 ABCG2 ABCG2 . . . . . . 358 0.00550973 64976 353 0.00588471 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3219193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0056 0.0024 0 0 0.0060 0.0092 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs3219193 rs3219193 rs3219193 rs3219193 1 1538 10 1/0 0,255,255 +rs200328226 4 90169592 G A - GPRIN3 27733 GPRIN family member 3 NM_198281.2 -1 6352 2331 NP_938022.2 Q6ZVF9 substitution missense exon GRCh37 90169592 90169592 Chr4(GRCh37):g.90169592G>A 1670 1670 NM_198281.2:c.1670C>T p.Ser557Leu p.Ser557Leu 2 611241 1793 3' 89.4968 7.24179 0.890411 9.90611 89.4968 7.24179 0.890411 9.90611 0 rs200328226 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000206 0.000083 0.000000 0.000000 0.000053 0.000000 0.000324 0.000427 0.000310 0.000427 57 2 0 0 1 0 41 11 2 276914 24028 34414 10138 18844 30774 126468 25786 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 2 0 0 1 0 41 11 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4405 13003 2 1 3 0.000232558 0.000226963 0.000230663 0.000232558 0.000226963 0.000230663 101 transition C T C>T 0.000 0.367 S Ser TCG 0.056 L Leu TTG 0.127 557 11 6 White-tuffed-ear marmoset -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 244.82 0.00 Tolerated 0.44 III.73 good 7.927E-1 0.482 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . GPRIN3:NM_198281:exon2:c.C1670T:p.S557L . . 0.43661973 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.209 . . 71.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S557L|GPRIN3|mRNA|CODING|NM_198281|NM_198281.ex.2) 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . -1.0421 -1.022 -1.042 c . . . . . 1.579e-04 . . . 9.632e-05 0.0001 0 0 0.0008 0.0002 0 0 0.0001 0.0001 0 0 0.0005 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.079 . . exonic exonic exonic . . 0.250 0.0002 . . . 0.3 0.54 182 ENSG00000185477 GPRIN3 GPRIN3 . . . 1.000 0.424 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . T 0.050 0.002 . . 37 . 0.057 . . 0.339 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.146 . . . . . 0.247 . 0.007 . HET 0.39 rs200328226 . . . . . . . 0.0 0.0 0.0 0.0 0.0 7.1696 0.0 ENST00000333209 IV.72 I.95 . 0.360000 Q6ZVF9 . . . 0.000231 . 0.111 . . . 6.536e-05 0.0002 0 0 5.806e-05 0.0004 0.0003 0.0002 0 0.0001 0.0005 0 0 0 0.0006 0.0007 0.0010 . . 0.246 . 0.567 0.567000 . . 0.360000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.097 . 0.084 0.567 -0.449 0.0002 . . rs200328226 rs200328226 1 1538 10 1/0 0,255,255 +. 4 96025545 A G - BMPR1B 1077 Bone morphogenetic protein receptor, type IB NM_001256793.1 1 5397 1599 NP_001243722.1 substitution intron GRCh37 96025545 96025545 Chr4(GRCh37):g.96025545A>G 74-14 74-14 NM_001256793.1:c.74-14A>G p.? p.? 2 1 603248 -14 3' 91.4905 8.79448 0.956922 9.92406 91.4905 X.36 0.968453 11.1829 0.0623532 transition A G A>G 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.4528302 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.0927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . . . . ENSG00000138696 BMPR1B BMPR1B ENST00000394931:c.-31A>G uc003htn.4:c.-31A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs61754858 4 100063853 T C - ADH4 252 Alcohol dehydrogenase 4 (class II), pi polypeptide NM_001306171.1 -1 2152 1200 NP_001293100.1 substitution missense exon GRCh37 100063853 100063853 Chr4(GRCh37):g.100063853T>C 154 154 NM_001306171.1:c.154A>G p.Lys52Glu p.Lys52Glu 3 103740 -24 5' 100 X.83 0.997702 XII.54 100 X.83 0.997702 XII.42 0 rs61754858 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000322 0.000254 0.000094 0.000103 0.000000 0.000000 0.000511 0.000430 0.000323 0.000511 86 6 3 1 0 0 63 11 2 267346 23646 31830 9676 17882 29248 123296 25576 6192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 6 3 1 0 0 63 11 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4405 13000 5 1 6 0.000581395 0.000226963 0.000461326 0.000581395 0.000226963 0.000461326 63 transition A G A>G 0.992 1.577 K Lys AAG 0.575 E Glu GAG 0.583 52 11 11 Zebrafish 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C55 0.00 56.87 Deleterious 0 III.84 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.52380955 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.534 . @ . . . . . 1 0.885 . . 21.0 . . . 0.0002 0.0005 0.0006 0.0002 0.0005 0.0006 . 0.4078 0.383 0.408 c . . . . . . . . . 0.0003 0.0004 0.0003 0 0.0019 0.0004 0.0015 0 0.0002 0.0003 0.0004 0 0.0011 0.0004 0.0015 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.037 . . exonic exonic exonic . . 0.486 0.0002 . . . 0.33 0.43 182 ENSG00000198099 ADH4 ADH4 . . . 1.000 0.467 . 35 0.00053866 64976 34 0.000566799 59986 Uncertain_significance . 0 . 0.419 . . . . T 0.284 0.011 . . 37 . 0.156 . . 0.007 . . . 0.915 0.548 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.670 . . 0 0 0 0 0 0 . 0.588 . . 0.582 . . . . . . 1 0.654 . . . . . 0.603 . 0.271 . HET 0 rs61754858 . . . . . . . . . . . . 13.4286 2.68E-4 . 4.II 4.II . 0.010000 . . . Name\x3dnsv879656 0.000461 . 0.460 . . 4.II 0.0003 0.0003 9.679e-05 0.0001 0 0.0004 0.0004 0.0004 0 0.0002 0.0007 0 0 0 0.0009 0.0011 0 . . 0.133 . 1.909 1.909000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.411 0.456 . 0.595 . 0.421 1.909 0.991 0.0006 rs61754858 rs61754858 rs61754858 rs61754858 1 1538 10 1/0 0,255,255 +rs138623507 4 100063889 G C - ADH4 252 Alcohol dehydrogenase 4 (class II), pi polypeptide NM_001306171.1 -1 2152 1200 NP_001293100.1 substitution missense exon GRCh37 100063889 100063889 Chr4(GRCh37):g.100063889G>C 118 118 NM_001306171.1:c.118C>G p.Pro40Ala p.Pro40Ala 3 103740 43 3' 96.6752 15.5376 0.99676 15.0072 96.6752 15.5376 0.99676 15.0435 0 rs138623507 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000343 0.000294 0.000091 0.000101 0.000000 0.000000 0.000546 0.000468 0.000317 0.000546 93 7 3 1 0 0 68 12 2 271244 23844 32874 9896 18190 29940 124516 25668 6316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 7 3 1 0 0 68 12 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4405 13000 5 1 6 0.000581395 0.000226963 0.000461326 0.000581395 0.000226963 0.000461326 59 transversion C G C>G 0.992 3.272 P Pro CCC 0.328 A Ala GCC 0.403 40 11 11 Zebrafish -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C25 0.00 26.87 Deleterious 0 III.84 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.4857143 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.651 . . 35.0 . . . 0.0002 0.0005 0.0006 0.0002 0.0005 0.0006 . 0.6084 0.512 0.608 c . . . . . 3.157e-04 . . . 0.0003 0.0004 0.0003 0 0.0019 0.0004 0.0015 0 0.0002 0.0003 0.0004 0 0.0011 0.0004 0.0015 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.455 0.0002 . . . 0.33 0.42 182 ENSG00000198099 ADH4 ADH4 . . . 1.000 0.747 . 40 0.000615612 64976 39 0.000650152 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.195 0.007 . . 37 . 0.251 . . 0.034 . . . 0.889 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.942 . . 0 0 0 0 0 0 . 0.689 . . 0.619 . . . . . . 1 0.784 . . . . . 0.542 . 0.444 . HET 0 rs138623507 . . . . . . . . . . . . XII.34 2.68E-4 . 4.0 4.0 . 0.010000 . . . Name\x3dnsv879656 0.000461 . 0.555 . . 4 0.0003 0.0003 9.364e-05 0.0001 0 0.0004 0.0005 0.0004 0 0.0002 0.0007 0 0 0 0.0009 0.0011 0 . . 0.133 . 2.241 2.241000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.552 0.176 . 0.690 . 0.384 2.241 0.917 0.0006 . . rs138623507 rs138623507 1 1538 10 1/0 0,255,255 +. 4 102964943 G T - BANK1 18233 B-cell scaffold protein with ankyrin repeats 1 NM_017935.4 1 3445 2358 NP_060405.4 Q8NDB2 substitution intron GRCh37 102964943 102964943 Chr4(GRCh37):g.102964943G>T 1901-53 1901-53 NM_017935.4:c.1901-53G>T p.? p.? 11 10 610292 -53 3' 88.4977 7.01896 0.969643 5.44975 88.4977 7.01896 0.969643 5.26208 0 rs929525141 yes no Frequency 1 G 0.000000 0 0.000291 0.000000 0.000000 0.013245 0.000000 0.000000 0.000267 0.000000 0.001018 0.013245 9 0 0 4 0 0 4 0 1 30928 8726 836 302 1612 0 14982 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 4 0 0 4 0 1 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion G T G>T 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5882353 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.2756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000153064 BANK1 BANK1 . . . . . . 38 0.000584831 64976 38 0.000633481 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0.0132 0 0 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200902693 4 103518830 C G - NFKB1 7794 Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 NM_003998.3 1 4085 2910 NP_003989.2 substitution intron GRCh37 103518830 103518830 Chr4(GRCh37):g.103518830C>G 1637+12 1637+12 NM_003998.3:c.1637+12C>G p.? p.? 15 15 164011 12 5' 100 X.83 0.998005 IX.62 100 X.83 0.998005 9.29221 0 rs200902693 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000643 0.000125 0.001051 0.000000 0.002131 0.000566 0.000645 0.000000 0.000000 0.002131 176 3 35 0 40 17 81 0 0 273636 23990 33290 10020 18770 30016 125518 25686 6346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 176 3 35 0 40 17 81 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4405 12996 9 1 10 0.00104651 0.000226963 0.000768876 0.00104651 0.000226963 0.000768876 99 transversion C G C>G 0.000 0.125 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5104167 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . 0.0002 0.0008 0.001 0.0002 0.0008 0.001 . 0.0416 . . . . . . . . 6.472e-04 . . . 0.0002 0.0007 0.0012 0.0016 0 0.0007 0 0.0008 0.0001 0.0007 0.0012 0.0024 0 0.0005 0 0.0008 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.39 0.1 182 ENSG00000109320 NFKB1 NFKB1 . . . . . . 27 0.000415538 64976 26 0.000433434 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200902693 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830020 0.000769 . . . . . 0.0001 0.0007 0.0010 0 0.0022 0 0.0007 0 0.0006 0.0001 0.0004 0.0012 0 0.0018 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200902693 rs200902693 1 1538 10 1/0 0,255,255 +rs77618489 4 103826685 T A - SLC9B1 24244 Solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 NM_139173.3 -1 1879 1548 NP_631912.2 Q4ZJI4 substitution stop gain exon GRCh37 103826685 103826685 Chr4(GRCh37):g.103826685T>A 1318 1318 NM_139173.3:c.1318A>T p.Lys440* p.Lys440* 11 611527 -15 5' 94.6711 X.63 0.998977 0 94.6711 X.63 0.998977 0 0 Cation/H+ exchanger rs77618489 no no 0 T 0.000000 0 0.000319 0.001153 0.000210 0.000100 0.000444 0.000033 0.000238 0.000479 0.000324 0.001153 85 25 7 1 8 1 29 12 2 266266 21678 33294 9990 17998 30110 121958 25064 6174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 25 7 1 8 1 29 12 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4328494|COSM4328494|COSM4328494 Upper aerodigestive tract|Skin|Liver 0.016077|0.000812|0.000422 1244|1232|2371 transversion A T A>T 1.000 2.950 K Lys AAA 0.425 * * TAA 0.277 440 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.991 . @ . . . . . 0 0.712 . . 27.0 . . . . . . . . . . 0.6880 0.508 0.688 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.387 @ . . . 0.35 0.55 182 ENSG00000164037 SLC9B1 SLC9B1 . . . 0.013 0.124 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.488 . . . HET 0 rs77618489 . . . . . . . . . . . . XI.28 . . III.47 III.47 . 1.000000 . . . . . . 0.596 . . III.47 0.0001 3.732e-05 6.137e-05 0 5.964e-05 0 2.736e-05 0 3.321e-05 0.0033 0.0030 0.0071 0.0038 0.0057 0.0042 0.0021 0.0025 . . 0.246 . 1.564 1.564000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.625 0.998 . 0.665 . 0.420 1.564 0.991 . . . rs77618489 rs77618489 1 1538 10 1/0 0,255,255 +rs6533206 (chr4:106474096 T/C) 4 106474096 T C Transcript NM_001242729.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) ARHGEF38 +rs545198673 4 106552316 T G - ARHGEF38 25968 Rho guanine nucleotide exchange factor (GEF) 38 NM_001242729.1 1 5456 2334 NP_001229658.1 Q9NXL2 substitution intron GRCh37 106552316 106552316 Chr4(GRCh37):g.106552316T>G 656+114 656+114 NM_001242729.1:c.656+114T>G p.? p.? 4 4 114 5' 82.5385 VI.58 0.994228 0.820277 82.5385 VI.58 0.994228 0.820277 0 rs545198673 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.002647 0.000115 0.000000 0.000000 0.000000 0.000000 0.004196 0.004865 0.001018 0.004865 82 1 0 0 0 0 63 17 1 30982 8730 838 302 1620 0 15016 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 82 1 0 0 0 0 63 17 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T G T>G 0.409 -0.682 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.3611111 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . 0.6817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . . . . ENSG00000236699 ARHGEF38 ARHGEF38 ENST00000265154:c.*110T>G uc003hxu.3:c.*110T>G NM_017700:c.*110T>G . . . 91 0.00140052 64976 90 0.00150035 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs545198673 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv879699 . . . . . . . . . . . . . . . 0.0001 0.0026 0 0 0 0.0049 0.0042 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs774433183 4 107169390 A C - TBCK 28261 TBC1 domain containing kinase NM_001163435.2 -1 5300 2682 NP_001156907.1 Q8TEA7 substitution intron GRCh37 107169390 107169390 Chr4(GRCh37):g.107169390A>C 782+12 782+12 NM_001163435.2:c.782+12T>G p.? p.? 9 9 616899 12 5' 64.8375 1.51603 0.136843 0 64.8375 1.51603 0.136843 0 0 rs774433183 yes no Frequency 1 A 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 0.000034 4 0 0 0 0 0 4 0 0 251042 23134 27182 8790 16780 24738 119384 25312 5722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.41935483 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.3602 . . . . . . . . 7.895e-06 . . . 0 1.123e-05 0 0 0 2.416e-05 0 0 0 9.563e-06 0 0 0 1.865e-05 0 0 . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000145348 TBCK TBCK ENST00000503832:c.*199T>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs774433183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.72 0 1.363e-05 0 0 0 0 2.874e-05 0 0 0 3.232e-05 0 0 0 0 6.674e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 108820812 A G - SGMS2 28395 Sphingomyelin synthase 2 NM_001136258.1 1 6147 1098 NP_001129730.1 Q8NHU3 substitution synonymous exon GRCh37 108820812 108820812 Chr4(GRCh37):g.108820812A>G 537 537 NM_001136258.1:c.537A>G p.Leu179= p.Leu179Leu 4 611574 -37 5' 89.8108 8.67858 0.992722 4.67054 89.8108 8.67858 0.992722 5.16144 0 Phosphatidic acid phosphatase type 2/haloperoxidase 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 244862 15266 33234 9830 17190 30518 111118 22274 5432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes transition A G A>G 0.016 -1.974 L Leu CTA 0.070 L Leu CTG 0.404 179 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . 0.1375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000164023 SGMS2 SGMS2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv461611 . . . . . . 0 4.084e-06 0 0 0 0 8.999e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs368913511 4 109670448 T C - ETNPPL 14404 Ethanolamine-phosphate phospho-lyase NM_031279.3 -1 2125 1500 NP_112569.2 Q8TBG4 substitution synonymous exon GRCh37 109670448 109670448 Chr4(GRCh37):g.109670448T>C 873 873 NM_031279.3:c.873A>G p.Thr291= p.Thr291Thr 8 614682 -55 5' 67.8423 6.52756 0.814892 0 67.8423 6.52756 0.814892 0.925393 0 Aminotransferase class-III rs368913511 yes no Frequency 1 T 0.000000 0 0.000007 0.000042 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000042 2 1 0 0 0 0 1 0 0 277228 24038 34416 10152 18870 30780 126716 25792 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 84 transition A G A>G 0.992 0.044 T Thr ACA 0.280 T Thr ACG 0.116 291 255 PASS . . . . . . . . . . . . . . . . 0.6111111 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 54.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 1.1391 . . . . . . . . 7.892e-06 . . . 0 1.103e-05 0 0 0 2.373e-05 0 0 0 9.421e-06 0 0 0 1.841e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.32 182 ENSG00000164089 AGXT2L1 ETNPPL . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368913511 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 4.061e-06 0 0 0 0 8.953e-06 0 0 0.0001 3.227e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs368913511 rs368913511 1 1538 10 1/0 0,255,255 +rs150436709 4 113186798 G A - AP1AR 28808 Adaptor related protein complex 1 associated regulatory protein NM_018569.5 1 5963 909 NP_061039.3 Q63HQ0 substitution intron GRCh37 113186798 113186798 Chr4(GRCh37):g.113186798G>A 441-92 441-92 NM_018569.5:c.441-92G>A p.? p.? 8 7 610851 -92 3' 87.0771 7.25541 0.833187 3.72447 87.0771 7.25541 0.833187 3.72447 0 rs150436709 yes no Frequency/1000G 2 G 0.000000 0 0.004593 0.003000 0.005100 0.000000 0.009900 0.005800 0.004434 0.001146 0.003589 0.029801 0.000618 0.000000 0.006755 0.001720 0.007157 0.029801 137 10 3 9 1 0 101 6 7 30900 8726 836 302 1618 0 14952 3488 978 0.007299 0.000000 0.000000 0.000000 0.000000 0.000000 0.009901 0.000000 0.000000 1 0 0 0 0 0 1 0 0 135 10 3 9 1 0 99 6 7 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition G A G>A 0.000 -0.198 249 PASS 0.01 0.01 . . 0.01 0.003 0.0046 0.0058 . 0.0099 0.0051 . . . . . 0.31578946 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . 0.3883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0046 . . . 0.36 0.22 182 ENSG00000138660 AP1AR AP1AR . . . . . . 373 0.00574058 64976 351 0.00585137 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150436709 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0044 0.0036 0.0298 0.0006 0.0017 0.0068 0.0072 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.011 . . rs150436709 rs150436709 1 1538 10 1/0 0,255,255 +. (chr4:119552964 C/G) 4 119552964 C G Not on a known gene +. 4 123268798 C CATG - KIAA1109 26953 KIAA1109 NM_015312.3 1 15575 15018 NP_056127.2 Q2LD37 duplication in-frame exon GRCh37 123268801 123268802 Chr4(GRCh37):g.123268799_123268801dup 12994 12996 NM_015312.3:c.12994_12996dup p.Met4332dup p.Met4332dup 74 611565 125 3' 84.2984 VII.78 0.879178 8.47268 84.2984 VII.78 0.879178 8.47268 0 rs759468278 yes no Frequency 1 0.000000 0 0.000127 0.000000 0.000000 0.000000 0.000000 0.000000 0.000254 0.000078 0.000155 0.000254 35 0 0 0 0 0 32 2 1 276566 24014 34344 10134 18856 30780 126202 25788 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 0 0 0 0 0 32 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8066 4018 12084 2 0 2 0.000247893 0 0.000165481 0.000247893 0 0.000165481 101 ATG 255 Pass . . . . . . . . . . . . . KIAA1109:NM_015312:exon74:c.12993_12994insATG:p.H4331delinsHM . . 0.47435898 . . . 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 78 . . CODON_INSERTION(MODERATE||-/ATG|-4332M|KIAA1109|mRNA|CODING|NM_015312|NM_015312.ex.74) . 0.0002 0.0002 . 0.0002 0.0002 . . . . . . . . . . 1.193e-04 . . . 0 0.0001 0 0 0.0003 0.0002 0 0 0 7.59e-05 0 0 0.0003 0.0001 0 0 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000138688 KIAA1109 KIAA1109 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs759468278 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv4496 0.000165 . . . . . 0 0.0001 0 0 0 8.971e-05 0.0002 0.0002 0 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . . . 1 1538 10 1.I 0,12,32 +rs141383757 4 128748467 G A - HSPA4L 17041 Heat shock protein family A (Hsp70) member 4 like NM_001317381.1 1 4051 2613 NP_001304310.1 substitution missense exon GRCh37 128748467 128748467 Chr4(GRCh37):g.128748467G>A 2147 2147 NM_001317381.1:c.2147G>A p.Gly716Asp p.Gly716Asp 18 8 3' 85.5569 5.84237 0.130332 3.36936 85.5569 5.84237 0.086667 3.97112 -0.111676 rs141383757 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.001337 0.000292 0.000147 0.002695 0.000000 0.000000 0.002329 0.001126 0.000934 0.002695 367 7 5 27 0 0 293 29 6 274416 23996 33934 10020 18702 29760 125818 25762 6424 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 365 7 5 27 0 0 291 29 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4406 12987 19 0 19 0.0022093 0 0.00146086 0.0022093 0 0.00146086 77 COSM4894838 Skin 0.000812 1232 transition G A G>A 1.000 4.967 G Gly GGC 0.342 D Asp GAC 0.539 716 12 10 Baker's yeast -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 215.19 64.73 Deleterious 0.04 III.23 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0004 . . 0.001 . . . . . . 0.62068963 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.840 . @ . . . . . 1 0.916 . . 29.0 . . . . 0.0015 0.0022 . 0.0015 0.0022 . 0.8951 0.785 0.895 c . . . . . 1.326e-03 . . . 0.0005 0.0011 8.67e-05 0 0.0008 0.0021 0.0042 0 0.0003 0.0012 8.94e-05 0 0.0005 0.0023 0.0043 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.142 . . exonic exonic exonic . . 0.572 0.0004 . . . 0.75 0.39 182 ENSG00000164070 HSPA4L HSPA4L . . . 1.000 0.747 . 95 0.00146208 64976 93 0.00155036 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.564 0.035 . . 37 . 0.496 . . 0.654 . . . 0.948 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.928 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.721 . . . . . 0.871 . 0.955 . HET 0 rs141383757 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0 0.0 0.0013192612137203166 17.3268 0.0 . IV.64 IV.64 . 0.000000 . . . . 0.001461 . 0.985 . . IV.64 0.0003 0.0013 0.0001 0.0028 0 0.0011 0.0023 0.0011 0 0.0003 0.0015 0.0012 0 0 0.0011 0.0025 0 . . 0.924 . 2.408 2.408000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.933 . 0.713 2.408 0.917 0.0022 . . rs141383757 rs141383757 1 1538 10 1/0 0,255,255 +. 4 129029009 G A - LARP1B 24704 La ribonucleoprotein domain family member 1B NM_018078.3 1 4048 2745 NP_060548.2 Q659C4 substitution intron GRCh37 129029009 129029009 Chr4(GRCh37):g.129029009G>A 988+541 988+541 NM_018078.3:c.988+541G>A p.? p.? 9 9 541 5' 81.9751 8.87834 0.807874 4.60167 81.9751 8.87834 0.807874 4.60167 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127258 5994 23444 7968 9844 22128 49016 5290 3574 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 60 Exomes transition G A G>A 1.000 0.690 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48.0 . . . . . . . . . . I.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000138709 LARP1B LARP1B ENST00000432347:c.*452G>A uc003ifx.3:c.*452G>A NM_032239:c.*452G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.91 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201323021 4 140587155 A G - MGST2 7063 Microsomal glutathione S-transferase 2 NM_002413.4 1 801 444 NP_002404.1 Q99735 substitution 5'UTR GRCh37 140587155 140587155 Chr4(GRCh37):g.140587155A>G -19 -19 NM_002413.4:c.-19A>G p.? p.? 1 601733 -77 5' 82.2284 6.91262 0.932696 0.937813 82.2284 6.91262 0.932696 1.79863 0 rs201323021 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000328 0.000125 0.000058 0.000000 0.000000 0.000065 0.000624 0.000039 0.000618 0.000624 91 3 2 0 0 2 79 1 4 277088 24032 34416 10146 18862 30762 126608 25794 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 91 3 2 0 0 2 79 1 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 81 transition A G A>G 0.000 -0.360 255 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.546875 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . I.93 . . . . . . . . 3.867e-04 . . . 9.701e-05 0.0003 8.714e-05 0 0 0.0007 0 6.153e-05 0.0001 0.0004 8.99e-05 0 0 0.0007 0 6.189e-05 . . . . . . UTR5 UTR5 UTR5 . . . 0.0002 . . . 0.62 0.6 182 ENSG00000085871 MGST2 MGST2 . . . . . . 31 0.000477099 64976 30 0.000500117 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201323021 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . . 6.535e-05 0.0003 5.956e-05 0 0 4.484e-05 0.0006 0.0004 6.502e-05 0.0002 0.0005 0 0 0 0 0.0007 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs201323021 rs201323021 1 1538 10 1/0 0,255,255 +. 4 141560737 C CAA - TBC1D9 21710 TBC1 domain family, member 9 (with GRAM domain) NM_015130.2 -1 5486 3801 NP_055945.2 Q6ZT07 insertion intron GRCh37 141560737 141560738 Chr4(GRCh37):g.141560737_141560738insAA 2338-156 2338-155 NM_015130.2:c.2338-156_2338-155insTT p.? p.? 14 13 -155 3' 89.3364 8.38225 0.979689 7.07614 89.3364 8.38225 0.979689 7.07614 0 Cryptic Acceptor Strongly Activated 141560725 0.78712 6.6e-05 71.0428 3.58473 0.001785 76.6393 TT 255 Pass . . . . . . . . . . . . . . . . 0.3181818 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000109436 TBC1D9 TBC1D9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,50 +. 4 141560737 C CAA - TNRC18P1 43881 Trinucleotide repeat containing 18 pseudogene 1 NR_077215.1 -1 1890 0 insertion downstream GRCh37 141560737 141560738 Chr4(GRCh37):g.141560737_141560738insAA *1607 *1608 NR_077215.1:n.*1607_*1608insTT p.? p.? 1 TT 255 Pass . . . . . . . . . . . . . . . . 0.3181818 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000109436 TBC1D9 TBC1D9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,50 +rs11100671 (chr4:141701208 A/G) 4 141701208 A G Not on a known gene +. (chr4:141701226 G/T) 4 141701226 G T Not on a known gene +rs372083096 (chr4:141701256 G/T) 4 141701256 G T Not on a known gene +rs377437853 4 146650323 A G - C4orf51 37264 Chromosome 4 open reading frame 51 NM_001080531.2 1 846 609 NP_001074000.1 C9J302 substitution synonymous exon GRCh37 146650323 146650323 Chr4(GRCh37):g.146650323A>G 369 369 NM_001080531.2:c.369A>G p.Ala123= p.Ala123Ala 4 3 3' 88.5652 X.71 0.991157 7.272 88.5652 X.72 0.991761 7.63956 -0.00394956 rs377437853 yes no Frequency 1 A 0.000000 0 0.000403 0.000043 0.000557 0.000101 0.000000 0.000630 0.000529 0.000000 0.000629 0.000630 110 1 19 1 0 19 66 0 4 272936 23434 34116 9934 18718 30150 124662 25562 6360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 1 19 1 0 19 66 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8150 3647 11797 8 1 9 0.000980633 0.000274123 0.000762324 0.000980633 0.000274123 0.000762324 103 transition A G A>G 1.000 0.286 A Ala GCA 0.226 A Ala GCG 0.107 123 255 PASS . . . . . . . . . . . ENSG00000237136:ENST00000438731:exon4:c.A369G:p.A123A C4orf51:uc003ikk.3:exon4:c.A369G:p.A123A C4orf51:NM_001080531:exon4:c.A369G:p.A123A . . 0.4883721 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|A123|C4orf51|mRNA|CODING|NM_001080531|NM_001080531.ex.4) 0.0003 0.0008 0.001 0.0003 0.0008 0.001 . 0.5165 . . . . . . . . 4.405e-04 . . . 0.0001 0.0007 0.0007 0 0 0.001 0 0.0005 0.0001 0.0005 0.0007 0 0 0.0008 0 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.28 182 ENSG00000237136 C4orf51 C4orf51 . . . . . . 11 0.000169293 64976 11 0.000183376 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377437853 . . . . . . . . . . . . 2.844 3.39E-4 ENST00000511965 III.48 0.961 . . . . . Name\x3dnsv830105 0.000762 . . . . . 6.798e-05 0.0004 0.0006 0.0001 0 0 0.0006 0.0007 0.0006 0 0.0001 0 0 0 0 0.0003 0 . . . . 0.213 0.213000 . . . . . 1.0E-255 . . . . . . . . . 0.213 . 0.001 . . rs377437853 rs377437853 1 1538 10 1/0 0,255,255 +. 4 158282177 C T - GRIA2 4572 Glutamate receptor, ionotropic, AMPA 2 NM_000826.3 1 5755 2652 NP_000817.2 P42262 substitution intron GRCh37 158282177 158282177 Chr4(GRCh37):g.158282177C>T 2292-513 2292-513 NM_000826.3:c.2292-513C>T p.? p.? 14 13 138247 -513 3' 77.9106 3.47129 0.017157 0 77.9106 3.47129 0.017157 0 0 Cryptic Acceptor Strongly Activated 158282182 3.45164 0.01079 74.7409 4.38879 0.017831 78.2865 transition C T C>T 1.000 4.322 255 PASS . . . . . . . . . . . ENSG00000120251:ENST00000264426:exon14:c.C2307T:p.L769L . GRIA2:NM_001083619:exon14:c.C2307T:p.L769L . . 0.42105263 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000120251 GRIA2 GRIA2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17476188 4 165111111 C T - MARCH1 26077 Membrane-associated ring finger (C3HC4) 1 NM_001166373.1 -1 5502 870 NP_001159845.1 Q8TCQ1 substitution intron GRCh37 165111111 165111111 Chr4(GRCh37):g.165111111C>T -78410 -78410 NM_001166373.1:c.-113-78297G>A p.? p.? 2 1 613331 -78297 3' 92.1985 9.02766 0.921123 5.90259 92.1985 9.02766 0.921123 5.90259 0 rs17476188 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.014976 0.001500 0.040900 0.001000 0.015900 0.023100 0.007943 0.002293 0.010740 0.023179 0.000000 0.000000 0.012858 0.002290 0.009165 0.023179 246 20 9 7 0 0 193 8 9 30970 8724 838 302 1620 0 15010 3494 982 0.012195 0.000000 0.111111 0.000000 0.000000 0.000000 0.010363 0.000000 0.000000 3 0 1 0 0 0 2 0 0 240 20 7 7 0 0 189 8 9 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 1.000 1.658 255 PASS . 0.01 0.02 . 0.02 0.0015 0.015 0.023 0.001 0.016 0.041 . . . . . 0.45614034 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||MARCH1|mRNA|CODING|NM_001166373|) . . . . . . . 0.0625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . 0.0150 . . . 0.26 0.08 182 ENSG00000250746 MARCH1 MARCH1 . . . . . . 822 0.0126508 64976 754 0.0125696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17476188 0.011 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0079 0.0107 0.0232 0 0.0023 0.0129 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs17476188 rs17476188 rs17476188 rs17476188 1 1538 10 1/0 0,255,255 +rs202185247 4 166141086 A G - KLHL2 6353 Kelch-like 2, Mayven (Drosophila) NM_001161521.1 1 3014 1794 NP_001154993.1 substitution synonymous exon GRCh37 166141086 166141086 Chr4(GRCh37):g.166141086A>G 39 39 NM_001161521.1:c.39A>G p.Val13= p.Val13Val 2 605774 1 3' 92.2675 8.63534 0.865677 VIII.69 96.1784 9.64729 0.949421 X.86 0.0854371 Cryptic Acceptor Strongly Activated 166141086 8.63534 0.865677 92.2675 9.64729 0.949421 96.1784 Kelch-like protein, gigaxonin rs202185247 yes no Frequency 1 A 0.000000 0 0.000228 0.000719 0.000316 0.000212 0.000171 0.000281 0.000143 0.000041 0.000336 0.000719 59 16 10 2 3 8 17 1 2 258578 22266 31636 9444 17550 28510 118534 24678 5960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 16 10 2 3 8 17 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 1.416 V Val GTA 0.114 V Val GTG 0.468 13 205 PASS . . . . . . . . . . . . . . . . 0.17391305 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . I.76 . . . . . . . . 1.318e-03 . . . 0.0003 0.0008 0.0003 0.0002 0 0.0005 0 0.0024 0.0002 0.0007 0.0003 0.0003 0.0003 0.0004 0 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.78 0.59 182 ENSG00000109466 KLHL2 KLHL2 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202185247 . . . . . . . . . . . . . . . . . . . . 0.0365 0.222 Name\x3dnsv881168 . . . . . IV.33 0.0002 0.0002 0.0003 0.0002 0.0002 4.693e-05 5.721e-05 0.0004 0.0003 0.0017 0.0009 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs202185247 rs202185247 1 1538 10 1/0 0,255,255 +rs61744599 4 175899076 A G - ADAM29 207 ADAM metallopeptidase domain 29 NM_001130703.1 1 3244 2463 NP_001124175.1 Q9UKF5 substitution synonymous exon GRCh37 175899076 175899076 Chr4(GRCh37):g.175899076A>G 2400 2400 NM_001130703.1:c.2400A>G p.Thr800= p.Thr800Thr 4 604778 2580 3' 85.3799 7.08965 0.976905 7.34833 85.3799 7.08965 0.976905 7.34833 0 Cryptic Acceptor Strongly Activated 175899086 4.85112 0.177435 75.0262 V.06 0.198564 75.0262 rs61744599 yes no Frequency 1 A 0.000000 0 0.002878 0.001327 0.001658 0.007704 0.000405 0.003153 0.003859 0.001508 0.003651 0.007704 564 27 43 49 6 69 328 26 16 195976 20340 25936 6360 14828 21882 85004 17244 4382 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 564 27 43 49 6 69 328 26 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8600 4405 13005 0 1 1 0 0.000226963 7.68876e-05 0 0.000226963 7.68876e-05 133 COSM1162319|COSM1162319|COSM1162319|COSM1162319 Thyroid|Pancreas|Large intestine|Kidney 0.002677|0.000566|0.000443|0.000549 747|1766|2257|1821 transition A G A>G 0.000 -0.279 T Thr ACA 0.280 T Thr ACG 0.116 800 214 PASS . . . . . . . . . . . . . . . . 0.19678715 . . @ 49 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 249.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.7514 . . . . . . . . . . . . 0.0425 0.0807 0.0689 0.0826 0.1157 0.0994 0.0757 0.0580 0.0457 0.0871 0.0683 0.0742 0.1133 0.1054 0.0795 0.0576 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.13 182 ENSG00000168594 ADAM29 ADAM29 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61744599 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0.0010 0.0027 0.0017 0.0080 0.0003 0.0016 0.0035 0.0032 0.0032 0.0019 0.0039 0.0017 0 0.0015 0.0008 0.0064 0.0059 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . 0.0002 rs61744599 rs61744599 rs61744599 rs61744599 1 1538 10 1/0 0,196,255 +rs146933346 4 175899088 G T - ADAM29 207 ADAM metallopeptidase domain 29 NM_001130703.1 1 3244 2463 NP_001124175.1 Q9UKF5 substitution missense exon GRCh37 175899088 175899088 Chr4(GRCh37):g.175899088G>T 2412 2412 NM_001130703.1:c.2412G>T p.Arg804Ser p.Arg804Ser 4 604778 2592 3' 85.3799 7.08965 0.976905 7.34833 85.3799 7.08965 0.976905 7.34833 0 rs146933346 yes no Frequency/1000G 2 T 0.000000 0 0.005591 0.000000 0.006100 0.009900 0.010900 0.001400 0.001456 0.000890 0.000889 0.003458 0.000209 0.001371 0.001926 0.000649 0.002318 0.003458 293 17 22 22 3 30 177 12 10 201186 19108 24744 6362 14378 21888 91890 18502 4314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 293 17 22 22 3 30 177 12 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1671444|COSM1671444|COSM1671444|COSM1671444|COSM1671444|COSM1671444 Upper aerodigestive tract|Thyroid|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system|Adrenal gland 0.003215|0.001339|0.000886|0.000283|0.000416|0.001595 1244|747|2257|3530|2406|627 transversion G T G>T 0.102 -1.489 R Arg AGG 0.207 S Ser AGT 0.149 804 7 2 Chimp -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Tolerated 0.92 IV.32 unknown 0.0 0.0 207 PASS . . . . . . 0.0056 0.0014 0.0099 0.011 0.0061 . . . . . 0.1755102 . . @ 43 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.029 . . 245.0 . . . . . . . . . . -1.8015 -1.897 -1.802 c . . . . . . . . . 0.0372 0.0740 0.0647 0.0780 0.1087 0.0897 0.0739 0.0541 0.0396 0.0804 0.0640 0.0702 0.1067 0.0965 0.0762 0.0536 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.019 . . exonic exonic exonic . . 0.100 0.0056 . . . 0.15 0.11 182 ENSG00000168594 ADAM29 ADAM29 . . . 0.000 0.012 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.012 . . 0.472 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.047 . 0.029 . HET 0.9 rs146933346 . . . . . . . . . . . . II.05 . . 0.439 -0.878 . . Q9UKF5 . . . . . 0.002 . . . 0.0005 0.0013 0.0009 0.0036 0.0002 0.0007 0.0017 0.0021 0.0014 0.0018 0.0027 0.0019 0 0.0008 0.0005 0.0042 0.0037 . . 0.133 . -1.571 -1.571000 . . . . . 1.0E-207 0.000 0.063 . 0.016 0.075 . 0.034 . 0.001 -1.571 -1.584 . . . rs146933346 rs146933346 1 1538 10 1/0 0,195,255 +. 4 177081353 C A - WDR17 16661 WD repeat domain 17 NM_170710.4 1 7521 3969 NP_733828.2 Q8IZU2 substitution intron GRCh37 177081353 177081353 Chr4(GRCh37):g.177081353C>A 2730+76 2730+76 NM_170710.4:c.2730+76C>A p.? p.? 20 20 609005 76 5' 82.5196 8.59441 0.904282 1.66521 82.5196 8.59441 0.904282 1.55438 0 transversion C A C>A 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.44827586 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.0805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000150627 WDR17 WDR17 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199899977 4 190862132 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution 5'UTR GRCh37 190862132 190862132 Chr4(GRCh37):g.190862132C>T -33 -33 NM_004477.2:c.-33C>T p.? p.? 1 601278 -95 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 IV.25 0 rs199899977 no no 0 0.000000 0 transition C T C>T 0.000 -0.279 187 PASS . . . . . . . . . . . . . . . . 0.12857144 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . UTR_5_PRIME(MODIFIER||||FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . 0.8439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.52 0.34 182 ENSG00000109536 FRG1 FRG1 . uc003izs.3:c.-33C>T NM_004477:c.-33C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs199899977 rs199899977 1 1538 10 1/0 0,244,255 +. 4 190862164 C CGACTTCTG - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 insertion 5'UTR GRCh37 190862164 190862165 Chr4(GRCh37):g.190862164_190862165insGACTTCTG -1 1 NM_004477.2:c.-1_1insGACTTCTG p.? p.? 1 601278 -62 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 6.26361 0 GACTTCTG 255 Pass . . . . . . . . . . . . . . . . 0.13636364 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 88 . . FRAME_SHIFT(HIGH||||FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000109536 FRG1 FRG1 . uc003izs.3:c.-1_0insGACTTCTG NM_004477:c.-1_0insGACTTCTG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,87 +rs868258562 4 190862169 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190862169 190862169 Chr4(GRCh37):g.190862169C>T 5 5 NM_004477.2:c.5C>T p.Ala2Val p.Ala2Val 1 601278 -58 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 IV.92 0 rs868258562 no no 0 0.000000 0 transition C T C>T 0.992 2.223 A Ala GCC 0.403 V Val GTC 0.240 2 11 10 C. elegans 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 99.13 64.43 Deleterious 0.02 III.46 bad 6.485E-4 0.0009511 182 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon1:c.C5T:p.A2V FRG1:NM_004477:exon1:c.C5T:p.A2V . . 0.11702128 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.658 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A2V|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . 0.2585 0.176 0.259 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.344 . . exonic exonic exonic . . 0.390 @ . . . . . . ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.497 0.027 . . 37 . 0.447 . . 0.532 . . . 0.306 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.485 . . 0 0 0 0 0 0 . 0.432 . . 0.453 . . . . . . 0 0.398 . . . . . 0.459 . 0.645 . LowAF 0.01 . . . . . . . . . . . . . X.75 . ENST00000226798 3.V 3.V . 0.010000 Q14331 . . . . . 0.330 . . 3.V . . . . . . . . . . . . . . . . . . . 0.072 . 2.249 2.249000 . . 0.010000 . . 1.0E-182 1.000 0.715 . 0.206 0.811 . 0.558 . 0.391 2.249 0.598 . . . . . 1 1538 10 1/0 0,230,255 +rs75403683 4 190862179 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution synonymous exon GRCh37 190862179 190862179 Chr4(GRCh37):g.190862179C>T 15 15 NM_004477.2:c.15C>T p.Ser5= p.Ser5Ser 1 601278 -48 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 4.52483 0 rs75403683 yes no Frequency 1 0.000000 0 0.000020 0.000065 0.000089 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000089 5 1 3 0 1 0 0 0 0 246000 15286 33574 9844 17244 30776 111498 22298 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 3 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes COSM1162321|COSM1162321 Thyroid|Pancreas 0.005355|0.000569 747|1758 transition C T C>T 0.016 -1.732 S Ser TCC 0.220 S Ser TCT 0.185 5 179 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon1:c.C15T:p.S5S FRG1:NM_004477:exon1:c.C15T:p.S5S . . 0.11111111 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 90.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S5|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . 0.8722 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0.0002 0 0 0 0 0 9.441e-06 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.47 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.542e-05 2.033e-05 8.935e-05 0 5.799e-05 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs75403683 rs75403683 1 1538 10 1/0 0,231,255 +rs113582021 4 190862204 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190862204 190862204 Chr4(GRCh37):g.190862204C>T 40 40 NM_004477.2:c.40C>T p.Leu14Phe p.Leu14Phe 1 601278 -23 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 4.30386 0 rs113582021 yes no Frequency 1 0.000000 0 0.000025 0.000291 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000291 7 7 0 0 0 0 0 0 0 276776 24024 34414 10148 18860 30780 126292 25794 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 7 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4403 13003 0 3 3 0 0.00068089 0.000230663 0 0.00068089 0.000230663 40 transition C T C>T 1.000 2.465 L Leu CTC 0.197 F Phe TTC 0.546 14 11 10 C. elegans 1 0 0 0 0 4.IX 5.II 111 132 22 C0 21.82 0.00 Tolerated 0.14 III.46 good 8.973E-2 0.001963 235 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon1:c.C40T:p.L14F FRG1:NM_004477:exon1:c.C40T:p.L14F . . 0.26 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.603 . @ . . . . . 1 0.456 . . 100.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L14F|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) 0.0007 0.0002 . 0.0007 0.0002 . . 0.2513 0.232 0.251 c . . . . . 3.157e-05 . . . 0.0004 4.452e-05 0 0 0 0 0 0 0.0004 3.785e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.394 . . exonic exonic exonic . . 0.444 @ . . . 0.51 0.51 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.449 . . . . T 0.361 0.015 . . 37 . 0.452 . . 0.296 . . . 0.383 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.439 . . 0.485 . . . . . . 0 0.371 . . . . . 0.506 . 0.554 . HET 0.12 . . . . . . . . . . . . . XI.97 8.03E-4 ENST00000226798 III.92 III.92 . 0.340000 Q14331 . . . 0.000231 . 0.319 . . III.92 0.0003 1.627e-05 0 0 0 0 0 0 0 0.0003 9.687e-05 0 0 0 0 0 0 . . 0.072 . 2.189 2.189000 . . 0.340000 . . 1.0E-235 1.000 0.715 . 0.389 0.990 . 0.558 . 0.391 2.189 0.598 0.0007 . . rs113582021 rs113582021 1 1538 10 1/0 0,240,255 +rs17797703 4 190862219 A G - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190862219 190862219 Chr4(GRCh37):g.190862219A>G 55 55 NM_004477.2:c.55A>G p.Thr19Ala p.Thr19Ala 1 601278 -8 5' 82.5023 7.07454 0.924812 IV.25 82.5023 7.07454 0.924812 4.68532 0 rs17797703 yes no Frequency/HapMap 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28626 7884 762 294 1462 0 13974 3360 890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 48 Genomes COSM4158958 Thyroid 0.006693 747 transition A G A>G 0.961 1.174 T Thr ACG 0.116 A Ala GCG 0.107 19 11 2 Chimp 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 175.03 0.00 Tolerated 0.76 III.46 good 5.297E-1 0.4787 250 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon1:c.A55G:p.T19A FRG1:NM_004477:exon1:c.A55G:p.T19A . . 0.3068182 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.104 . @ . . . . . 1 0.074 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|T19A|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.1) . . . . . . . -1.0201 -0.831 -1.020 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . 0.344 @ . . . 0.48 0.43 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.125 . . . . T 0.040 0.002 . . 37 . 0.096 . . 0.326 . . . 0.004 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.051 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.034 . . . . . 0.290 . 0.315 . HET 0.79 . . . . . . . . . . . . . VII.93 . ENST00000226798 III.92 3.VIII . 0.750000 Q14331 . . . . . 0.035 . . 3.VIII . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.072 . 0.996 0.996000 . . 0.750000 . . 1.0E-250 0.921 0.317 . 0.083 0.803 . 0.273 . 0.030 0.996 -0.177 . rs17797703 rs17797703 rs17797703 rs17797703 1 1538 10 1/0 0,250,255 +. 4 190874147 AT A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 deletion intron GRCh37 190874153 190874153 Chr4(GRCh37):g.190874153del 260-70 260-70 NM_004477.2:c.260-70del p.? p.? 4 3 601278 -70 3' 82.1263 6.47639 0.87995 2.79856 82.1263 6.47639 0.87995 2.93584 0 rs111688662 yes no Frequency/1000G 2 0.000000 0 T 255 Pass . . . . . . . . . . . . . . . . 0.3962264 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111688662 rs111688662 1 1538 10 1.I 0,12,40 +rs62345275 4 190874175 A G - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190874175 190874175 Chr4(GRCh37):g.190874175A>G 260-48 260-48 NM_004477.2:c.260-48A>G p.? p.? 4 3 601278 -48 3' 82.1263 6.47639 0.87995 2.79856 82.1263 6.47639 0.87995 3.01824 0 rs62345275 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.279 218 PASS . . . . . . . . . . . . . . . . 0.20967741 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.2093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.16 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . rs4302017 rs4302017 rs4302017 rs4302017 1 1538 10 1/0 0,255,255 +rs17425201 4 190874255 A T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190874255 190874255 Chr4(GRCh37):g.190874255A>T 292 292 NM_004477.2:c.292A>T p.Thr98Ser p.Thr98Ser 4 601278 -26 5' 89.8591 9.60237 0.986255 0 89.8591 9.60237 0.986255 0 0 FRG1-like Fascin domain rs17425201 yes no Frequency 1 0.000000 0 0.000065 0.000219 0.000094 0.000000 0.000000 0.000035 0.000077 0.000000 0.000000 0.000219 15 3 3 0 0 1 8 0 0 230360 13708 32052 9272 16584 28198 103678 21774 5094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 3 3 0 0 1 8 0 0 0 0 0 0 0 0 0 0 0 RF 94 Exomes COSM225554|COSM225554|COSM225554|COSM225554|COSM225554|COSM225554 Skin|Prostate|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system|Breast 0.000812|0.000567|0.001793|0.000550|0.002079|0.000815 1232|1764|2231|3634|2405|2453 transversion A T A>T 1.000 3.353 T Thr ACG 0.116 S Ser TCG 0.056 98 11 10 Fruitfly 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 58.02 49.72 Tolerated 0.08 III.46 good 7.897E-1 0.01088 217 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon4:c.A292T:p.T98S FRG1:NM_004477:exon4:c.A292T:p.T98S . . 0.20588236 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.361 . @ . . . . . 1 0.494 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Tcg|T98S|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.4) . . . . . . . -0.2528 -0.061 -0.253 c . . . . . 1.090e-03 . . . 0.0021 0.0008 9.292e-05 0.0024 0 0.0010 0 6.807e-05 0.0010 0.0002 9.56e-05 0.0005 0 0.0001 0 6.847e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.520 . . exonic exonic exonic . . 0.416 @ . . . 0.52 0.51 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.335 0.014 . . 37 . 0.243 . . 0.087 . . . 0.033 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.612 . . 0 0 0 0 0 0 . 0.202 . . 0.277 . . . . . . 0 0.405 . . . . . 0.469 . 0.654 . HET 0.08 . . . . . . . . . . . . . 11.0497 . . III.71 III.71 . 0.170000 Q14331 . . . . . 0.698 . . III.71 0.0002 6.512e-05 9.36e-05 0 0 0 7.716e-05 0 3.546e-05 . . . . . . . . . . 0.924 . 1.645 1.645000 . . 0.170000 . . 1.0E-217 1.000 0.715 . 0.363 0.951 . 0.601 . 0.248 1.645 1.062 . rs17425201 rs17425201 rs1138717 rs1138717 1 1538 10 1/0 0,253,255 +rs111797658 4 190874290 T A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190874290 190874290 Chr4(GRCh37):g.190874290T>A 317+10 317+10 NM_004477.2:c.317+10T>A p.? p.? 4 4 601278 10 5' 89.8591 9.60237 0.986255 0 89.8591 9.60237 0.986255 0 0 rs111797658 yes no Frequency 1 0.000000 0 0.001258 0.000800 0.003107 0.000707 0.001066 0.001886 0.000778 0.001296 0.001350 0.003107 276 16 83 6 16 45 79 24 7 219346 19988 26718 8488 15016 23860 101574 18516 5186 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 276 16 83 6 16 45 79 24 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427150|COSM5427150 Large intestine|Haematopoietic and lymphoid tissue 0.001345|0.001376 2231|3634 transversion T A T>A 0.008 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.34146342 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.0879 . . . . . . . . 6.191e-03 . . . 0.0108 0.0064 0.0022 0.0079 0.0010 0.0089 0.0035 0.0026 0.0067 0.0020 0.0018 0.0029 0.0008 0.0013 0 0.0025 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.22 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0013 0.0030 0.0007 0.0011 0.0007 0.0009 0.0009 0.0019 0.0007 0.0010 0.0051 0 0.0007 0.0044 6.845e-05 0.0032 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111797658 rs111797658 1 1538 10 1/0 0,255,255 +rs879072641 4 190876137 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190876137 190876137 Chr4(GRCh37):g.190876137C>T 318-55 318-55 NM_004477.2:c.318-55C>T p.? p.? 5 4 601278 -55 3' 83.6483 4.86345 0.237358 1.91768 83.6483 4.86345 0.237358 1.79693 0 rs879072641 no no 0 0.000000 0 transition C T C>T 0.031 0.851 219 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.0883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17425208 4 190876196 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190876196 190876196 Chr4(GRCh37):g.190876196G>A 322 322 NM_004477.2:c.322G>A p.Ala108Thr p.Ala108Thr 5 601278 5 3' 83.6483 4.86345 0.237358 1.91768 83.6483 4.86345 0.23277 1.53087 -0.00644315 FRG1-like Fascin domain rs17425208 yes no Frequency 1 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000098 0.000009 0.000000 0.000000 0.000098 4 0 0 0 0 3 1 0 0 245614 15264 33532 9840 17238 30752 111232 22286 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 RF 98 Exomes COSM5763361 Large intestine 0.002241 2231 transition G A G>A 1.000 4.483 A Ala GCC 0.403 T Thr ACC 0.361 108 11 10 Fruitfly 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 99.13 29.38 Deleterious 0.03 III.46 bad 3.605E-3 0.001013 214 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon5:c.G322A:p.A108T FRG1:NM_004477:exon5:c.G322A:p.A108T . . 0.19791667 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.559 . @ . . . . . 1 0.771 . . 96.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A108T|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.5) . . . . . . . 0.3335 0.348 0.334 c . . . . . 9.472e-05 . . . 0 8.846e-05 0 0 0.0005 9.519e-05 0 0.0001 0 6.61e-05 0 0 0.0003 5.532e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.551 . . exonic exonic exonic . . 0.461 @ . . . 0.61 0.48 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.329 0.013 . . 37 . 0.511 . . 0.557 . . . 0.646 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.614 . . 0 0 0 0 0 0 . 0.411 . . 0.369 . . . . . . 0 0.427 . . . . . 0.647 . 0.825 . HET 0.03 . . . . . . . . . . . . . 14.145 . . 4.IV 4.IV . 0.290000 Q14331 . . . . . 0.823 . . 4.IV 0 1.629e-05 0 0 0 0 8.99e-06 0 9.755e-05 . . . . . . . . . . 0.830 . 1.964 1.964000 . . 0.290000 . . 1.0E-214 1.000 0.715 . 0.392 0.936 . 0.840 . 0.157 1.964 0.015 . rs1138719 rs1138719 rs17425208 rs17425208 1 1538 10 1/0 0,237,255 +rs200074469 4 190878504 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190878504 190878504 Chr4(GRCh37):g.190878504C>T 433-49 433-49 NM_004477.2:c.433-49C>T p.? p.? 6 5 601278 -49 3' 86.7742 7.88616 0.899795 3.92375 86.7742 7.88616 0.899795 3.73518 0 Cryptic Acceptor Weakly Activated 190878514 2.64713 0.024163 75.7057 2.49768 0.069212 78.9884 rs200074469 no no 0 0.000000 0 transition C T C>T 0.016 0.286 194 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.3515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.14 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs200074469 rs200074469 1 1538 10 1/0 0,255,255 +rs12643924 4 190878508 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190878508 190878508 Chr4(GRCh37):g.190878508C>T 433-45 433-45 NM_004477.2:c.433-45C>T p.? p.? 6 5 601278 -45 3' 86.7742 7.88616 0.899795 3.92375 86.7742 7.88616 0.899795 3.88904 0 Cryptic Acceptor Weakly Activated 190878514 2.64713 0.024163 75.7057 2.76194 0.043039 77.809 190878511 -13.8503 rs12643924 yes no Frequency 1 0.000000 0 0.000083 0.000191 0.000000 0.000227 0.000158 0.000000 0.000114 0.000000 0.000000 0.000227 18 3 0 2 2 0 11 0 0 215778 15706 29100 8824 12640 23824 96658 23748 5278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 3 0 2 2 0 11 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.924 221 PASS . . . . . . . . . . . . . . . . 0.2195122 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.3084 . . . . . . . . 4.823e-05 . . . 0 5.276e-05 0.0002 0 0 3.719e-05 0 0 0 4.734e-05 0.0002 0 0 3.187e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.15 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12643924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 9.153e-05 0 0.0002 0.0002 0 0.0001 0 0 0 3.329e-05 0 0 0 0 6.786e-05 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs12643924 rs12643924 rs12643924 rs12643924 1 1538 10 1/0 0,255,255 +rs189762674 4 190878580 A G - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190878580 190878580 Chr4(GRCh37):g.190878580A>G 460 460 NM_004477.2:c.460A>G p.Ser154Gly p.Ser154Gly 6 601278 28 3' 86.7742 7.88616 0.899795 3.92375 86.7742 7.88616 0.899795 4.55093 0 Cryptic Acceptor Strongly Activated 190878594 0.512643 3.02226 0.540567 70.8554 FRG1-like rs189762674 yes no Frequency 1 0.000000 0 COSM4331500 Large intestine 0.000896 2231 transition A G A>G 1.000 2.627 S Ser AGC 0.243 G Gly GGC 0.342 154 11 10 C. elegans 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 55.27 0.00 Tolerated 0.35 III.46 good 5.015E-1 0.001122 184 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon6:c.A460G:p.S154G FRG1:NM_004477:exon6:c.A460G:p.S154G . . 0.12258065 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.109 . @ . . . . . 1 0.012 . . 155.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S154G|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.6) . . . . . . . -0.4361 -0.265 -0.436 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . 0.485 @ . . . 0.58 0.34 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.290 0.011 . . 37 . 0.244 . . 0.073 . . . 0.240 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.206 . . 0.275 . . . . . . 0 0.051 . . . . . 0.499 . 0.715 . LowAF 0.79 . . . . . . . . . . . . . XI.49 . . IV.19 IV.19 . 1.000000 Q14331 . . . . . 0.516 . . IV.19 . . . . . . . . . . . . . . . . . . . 0.730 . 1.677 1.677000 . . 1.000000 . . 9.999999999999999E-185 1.000 0.715 . 0.604 1.000 . 0.650 . 0.217 1.677 1.039 . . . rs189762674 rs189762674 1 1538 10 1/0 0,209,255 +rs79943820 4 190878662 T C - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution splice site GRCh37 190878662 190878662 Chr4(GRCh37):g.190878662T>C 537+5 537+5 NM_004477.2:c.537+5T>C p.? p.? 6 6 601278 5 5' 82.2818 8.99306 0.977393 0 81.9786 X.32 0.977869 0 0.0434168 rs79943820 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000026 0.000000 0.000000 0.000000 0.000372 0.000000 0.000000 0.000000 0.000000 0.000372 7 0 0 0 7 0 0 0 0 274428 23278 34402 10092 18828 30714 124946 25744 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4331503|COSM4331503|COSM4331503 Upper aerodigestive tract|Skin|Large intestine 0.000804|0.002435|0.006723 1244|1232|2231 transition T C T>C 0.780 0.851 185 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.12435233 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 193.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.8600 . . . . . . . . 1.585e-05 . . . 0 2.281e-05 0 0.0002 0 0 0 6.146e-05 0 1.949e-05 0 0.0001 0 0 0 6.182e-05 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.58 0.27 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.008 . . . . . . 2.I 0 2.874e-05 0 0 0.0004 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs79943820 rs79943820 1 1538 10 1/0 0,200,255 +rs78503302 4 190878700 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190878700 190878700 Chr4(GRCh37):g.190878700G>A 537+43 537+43 NM_004477.2:c.537+43G>A p.? p.? 6 6 601278 43 5' 82.2818 8.99306 0.977393 0 82.2818 8.99306 0.977393 0 0 Cryptic Donor Strongly Activated 190878702 2.89923 0.013208 67.272 3.24636 0.025657 70.02 rs78503302 yes no Frequency 1 0.000000 0 0.000019 0.000000 0.000102 0.000000 0.000000 0.000000 0.000011 0.000000 0.000000 0.000102 4 0 3 0 0 0 1 0 0 214272 17486 29436 9170 13468 24682 91496 23082 5452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 3 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.602 190 PASS . . . . . . . . . . . . . . . . 0.13513513 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.2003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.23 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.179e-05 0.0001 0 0 0 1.307e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . rs78503302 rs78503302 1 1538 10 1/0 0,213,255 +rs28629891 4 190881826 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190881826 190881826 Chr4(GRCh37):g.190881826G>A 538-77 538-77 NM_004477.2:c.538-77G>A p.? p.? 7 6 601278 -77 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.30708 0 rs28629891 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30278 8450 828 300 1576 0 14776 3396 952 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition G A G>A 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.53097343 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.1609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.61 0.17 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28629891 rs28629891 rs28629891 rs28629891 1 1538 10 1/0 0,253,255 +rs11940164 4 190881840 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190881840 190881840 Chr4(GRCh37):g.190881840C>T 538-63 538-63 NM_004477.2:c.538-63C>T p.? p.? 7 6 601278 -63 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.79474 0 Cryptic Acceptor Strongly Activated 190881847 3.4e-05 63.5199 0.114003 9.5e-05 65.0306 rs11940164 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30088 8386 828 300 1550 0 14688 3378 958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition C T C>T 0.000 -1.167 219 PASS . . . . . . . . . . . . . . . . 0.2109375 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.5888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.11 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11940164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs11940164 rs11940164 rs11940164 rs112655458 1 1538 10 1/0 0,226,255 +rs7440511 4 190881854 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190881854 190881854 Chr4(GRCh37):g.190881854G>A 538-49 538-49 NM_004477.2:c.538-49G>A p.? p.? 7 6 601278 -49 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.36387 0 rs7440511 yes no Frequency/1000G 2 0.000000 0 transition G A G>A 0.000 0.448 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.0930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.63 0.15 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs7440511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs7440511 rs7440511 rs7440511 rs7440511 1 1538 10 1/0 0,215,255 +rs199856392 4 190881895 A T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190881895 190881895 Chr4(GRCh37):g.190881895A>T 538-8 538-8 NM_004477.2:c.538-8A>T p.? p.? 7 6 601278 -8 3' 76.2123 7.28726 0.830359 2.45928 81.3919 8.14304 0.961409 4.14867 0.114407 Cryptic Acceptor Strongly Activated 190881903 7.28726 0.830359 76.2123 8.14304 0.961409 81.3919 rs199856392 yes no Frequency 1 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000000 0.000088 0.000080 0.000066 0.000000 0.000088 6 0 0 0 0 1 4 1 0 117944 9120 15738 2606 11506 11362 49944 15052 2616 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 1 4 1 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes COSM5425150 Haematopoietic and lymphoid tissue 0.000550 3634 transversion A T A>T 0.000 -0.440 224 PASS . . . . . . . . . . . . . . . . 0.22377622 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . -0.1085 . . . . . . . . 2.507e-05 . . . 0.0005 0.0001 0 0.0006 0 0 0 0 0.0007 0.0002 0 0.0007 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.65 0.25 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.02 . . . . . . . 0 5.087e-05 0 0 0 6.644e-05 8.009e-05 0 8.801e-05 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs77164210 rs199856392 1 1538 10 1/0 0,222,255 +rs199588911 4 190883026 G T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190883026 190883026 Chr4(GRCh37):g.190883026G>T 679 679 NM_004477.2:c.679G>T p.Asp227Tyr p.Asp227Tyr 8 601278 50 3' 93.2901 6.39317 0.906131 0 93.2901 6.39317 0.906131 0 0 FRG1-like rs199588911 yes no Frequency 1 0.000000 0 COSM4005732|COSM4005732 Urinary tract|Central nervous system 0.001488|0.000416 672|2405 transversion G T G>T 1.000 4.967 D Asp GAC 0.539 Y Tyr TAC 0.562 227 11 11 C. elegans -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C65 0.00 159.94 Deleterious 0 III.46 bad 1.721E-4 0.0001552 253 PASS . . . . . . . . . . . . FRG1:uc003izs.3:exon8:c.G679T:p.D227Y FRG1:NM_004477:exon8:c.G679T:p.D227Y . . 0.32258064 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.669 . @ . . . . . 1 0.671 . . 31.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D227Y|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.8) . . . . . . . 0.5719 0.570 0.572 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.382 . . exonic exonic exonic . . 0.466 @ . . . 0.75 0.49 182 ENSG00000109536 FRG1 FRG1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.713 0.071 . . 37 . 0.437 . . 0.483 . . . 0.181 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.830 . . 0 0 0 0 0 0 . 0.764 . . 0.688 . . . . . . 0 0.784 . . . . . 0.651 . 0.793 . HET 0 . . . . . . . . . . . . . 14.2049 . . 4.VII 4.VII . 0.010000 Q14331 . . . . . 0.924 . . 4.VII . . . . . . . . . . . . . . . . . . . 0.522 . 1.997 1.997000 . . 0.010000 . . 1.0E-253 1.000 0.715 . 0.697 0.999 . 0.965 . 0.432 1.997 0.897 . . . rs199588911 rs199588911 1 1538 10 1/0 0,255,255 +rs1803593 4 190883051 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution missense exon GRCh37 190883051 190883051 Chr4(GRCh37):g.190883051G>A 704 704 NM_004477.2:c.704G>A p.Arg235Gln p.Arg235Gln 8 601278 -37 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 FRG1-like rs1803593 yes no Frequency 1 0.000000 0 0.000231 0.000673 0.000297 0.000000 0.000722 0.000074 0.000119 0.000325 0.000000 0.000722 58 13 9 0 12 2 14 8 0 250714 19330 30324 9638 16620 27104 117208 24640 5850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 13 9 0 12 2 14 8 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1716000|COSM1716000|COSM1716000 Upper aerodigestive tract|Small intestine|Large intestine 0.004019|0.018182|0.000896 1244|55|2231 transition G A G>A 1.000 3.353 R Arg CGG 0.207 Q Gln CAG 0.744 235 11 9 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 56.64 0.00 Tolerated 0.36 III.46 good 5.871E-1 0.001616 254 PASS . . . . . . . . . . . ENSG00000109536:ENST00000226798:exon8:c.G704A:p.R235Q FRG1:uc003izs.3:exon8:c.G704A:p.R235Q FRG1:NM_004477:exon8:c.G704A:p.R235Q . . 0.3243243 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.534 . @ . . . . . 1 0.407 . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R235Q|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.8) . . . . . . . -0.1426 -0.045 -0.143 c . . . . . 3.167e-05 . . . 0.0001 4.651e-05 8.688e-05 0.0002 0 2.552e-05 0 0 0.0001 3.902e-05 8.938e-05 0.0001 0 1.914e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.344 . . exonic exonic exonic . . 0.360 @ . . . 0.72 0.54 182 ENSG00000109536 FRG1 FRG1 . . . 0.998 0.365 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.617 0.045 . . 37 . 0.282 . . 0.078 . . . . 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.283 . . 0 0 0 0 0 0 . 0.303 . . 0.282 . . . . . . 0 0.245 . . . . . 0.419 . 0.549 . HET 0.22 . . . . . . . . . . . . . 10.172 . ENST00000226798 4.VII III.23 . 0.100000 Q14331 . . . . . 0.714 . . III.23 0.0001 8.326e-05 0.0002 0 0.0003 0 4.747e-05 0 7.379e-05 0.0020 0.0017 0.0066 0 0.0076 0.0032 0.0008 0 . . 0.522 . 0.849 0.849000 . . 0.100000 . . 1.0000000000000001E-254 1.000 0.715 . 0.529 0.988 . 0.727 . 0.067 0.849 -0.024 . rs1803593 rs1803593 rs1803593 rs1803593 1 1538 10 1/0 0,255,255 +rs201652217 4 190883073 G A - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution synonymous exon GRCh37 190883073 190883073 Chr4(GRCh37):g.190883073G>A 726 726 NM_004477.2:c.726G>A p.Glu242= p.Glu242Glu 8 601278 -15 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 FRG1-like rs201652217 yes no Frequency 1 0.000000 0 transition G A G>A 1.000 1.416 E Glu GAG 0.583 E Glu GAA 0.417 242 211 PASS . . . . . . . . . . . ENSG00000109536:ENST00000226798:exon8:c.G726A:p.E242E FRG1:uc003izs.3:exon8:c.G726A:p.E242E FRG1:NM_004477:exon8:c.G726A:p.E242E . . 0.1904762 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 42.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E242|FRG1|mRNA|CODING|NM_004477|NM_004477.ex.8) . . . . . . . 1.1721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.55 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . rs201652217 rs201652217 1 1538 10 1/0 0,255,255 +rs77771487 4 190883110 C T - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190883110 190883110 Chr4(GRCh37):g.190883110C>T 740+23 740+23 NM_004477.2:c.740+23C>T p.? p.? 8 8 601278 23 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 Cryptic Acceptor Strongly Activated 190883123 5.14993 0.317002 82.6585 5.42663 0.617763 85.7742 rs77771487 yes no Frequency 1 0.000000 0 0.000119 0.000109 0.000257 0.000122 0.000368 0.000091 0.000084 0.000000 0.000412 0.000368 26 2 5 1 5 2 9 0 2 218566 18412 19438 8198 13602 21974 107506 24582 4854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 2 5 1 5 2 9 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.044 221 PASS . . . . . . . . . . . . . . . . 0.2195122 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.0110 . . . . . . . . 8.026e-05 . . . 0.0001 0.0001 8.718e-05 0 0 0.0002 0 0 0.0001 7.819e-05 8.951e-05 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.24 182 ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.363e-05 0.0003 0.0001 0.0002 0 6.367e-05 0.0005 9.102e-05 0.0003 0.0003 0 0 0.0024 0 0.0002 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs77771487 rs77771487 1 1538 10 1/0 0,255,255 +. 4 190883117 T C - FRG1 3954 FSHD region gene 1 NM_004477.2 1 1043 777 NP_004468.1 Q14331 substitution intron GRCh37 190883117 190883117 Chr4(GRCh37):g.190883117T>C 740+30 740+30 NM_004477.2:c.740+30T>C p.? p.? 8 8 601278 30 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 transition T C T>C 0.000 0.286 203 PASS . . . . . . . . . . . . . . . . 0.17142858 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||FRG1|mRNA|CODING|NM_004477|) . . . . . . . 0.0743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000109536 FRG1 FRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs797040399 4 190943039 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943039 190943039 Chr4(GRCh37):g.190943039G>A 782 782 XR_171482.2:n.782C>T 1 615581 -501 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797040399 no no 0 0.000000 0 0.000178 0.000134 0.001520 0.010638 0.000000 0.000000 0.000000 0.000316 0.000000 0.010638 4 1 1 1 0 0 0 1 0 22484 7448 658 94 1248 0 9128 3162 746 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 66 Genomes transition C T C>T 0.000 -1.570 243 PASS . . . . . . . . . . . . . . . . 0.29032257 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . . . . . . . . . -0.7214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37011\x3bdist\x3d2484 dist\x3d58680\x3bdist\x3d2484 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0002 0.0015 0.0106 0 0.0003 0 0 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190943040 G C - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943040 190943040 Chr4(GRCh37):g.190943040G>C 781 781 XR_171482.2:n.781C>G 1 615581 -502 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 transversion C G C>G 0.000 -0.521 207 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 33.0 . . . . . . . . . . -0.4687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37012\x3bdist\x3d2483 dist\x3d58681\x3bdist\x3d2483 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190943171 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943171 190943171 Chr4(GRCh37):g.190943171G>A 650 650 XR_171482.2:n.650C>T 1 615581 -633 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 8 0 0 0 0 8 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 12895 Genomes transition C T C>T 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.84210527 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . . . . . . . . . -0.5007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37143\x3bdist\x3d2352 dist\x3d58812\x3bdist\x3d2352 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 0.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79787961 rs79787961 1 1538 10 1/0 0,255,255 +rs376772345 4 190943177 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943177 190943177 Chr4(GRCh37):g.190943177G>A 644 644 XR_171482.2:n.644C>T 1 615581 -639 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Weakly Activated 190943163 4.94857 0.055471 73.3108 5.08971 0.06267 76.0836 rs376772345 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 14 0 0 0 0 12 4 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 7482 Genomes transition C T C>T 0.055 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.8 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 20.0 . . . . . . . . . . -0.5136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37149\x3bdist\x3d2346 dist\x3d58818\x3bdist\x3d2346 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75602111 rs376772345 1 1538 10 1/0 0,255,255 +. 4 190943185 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943185 190943185 Chr4(GRCh37):g.190943185C>T 636 636 XR_171482.2:n.636G>A 1 615581 -647 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.005988 0.000000 0.000000 0.000000 0.000000 0.000000 0.021277 0.000000 0.000000 0.021277 2 0 0 0 0 0 2 0 0 334 134 18 4 10 0 94 62 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 840 Genomes transition G A G>A 0.000 -1.489 212 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . . . . . . . . . -0.7221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37157\x3bdist\x3d2338 dist\x3d58826\x3bdist\x3d2338 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0060 0 0 0 0 0.0213 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . rs71206217 . . 1 1538 10 1/0 0,255,255 +. 4 190943200 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943200 190943200 Chr4(GRCh37):g.190943200G>A 621 621 XR_171482.2:n.621C>T 1 615581 -662 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.002392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.050000 0.000000 0.050000 1 0 0 0 0 0 0 1 0 418 144 12 6 22 0 210 20 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 1044 Genomes transition C T C>T 0.087 1.255 194 PASS . . . . . . . . . . . . . . . . 0.14492753 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . . . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37172\x3bdist\x3d2323 dist\x3d58841\x3bdist\x3d2323 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0024 0 0 0 0.05 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs4995439 rs4995439 . . 1 1538 10 1/0 0,246,255 +. 4 190943220 C A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943220 190943220 Chr4(GRCh37):g.190943220C>A 601 601 XR_171482.2:n.601G>T 1 615581 -682 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943208 7.80821 0.866974 79.3089 X.36 0.9546 85.0376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 548 108 14 4 20 0 364 28 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1087 Genomes transversion G T G>T 0.157 0.448 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . . . . . . . . . 0.0557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37192\x3bdist\x3d2303 dist\x3d58861\x3bdist\x3d2303 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 4 190943227 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943227 190943227 Chr4(GRCh37):g.190943227C>T 594 594 XR_171482.2:n.594G>A 1 615581 -689 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 634 70 18 8 20 0 332 162 24 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 857 Genomes transition G A G>A 0.197 0.448 215 PASS . . . . . . . . . . . . . . . . 0.25555557 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 90.0 . . . . . . . . . . -0.2828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37199\x3bdist\x3d2296 dist\x3d58868\x3bdist\x3d2296 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +. 4 190943239 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943239 190943239 Chr4(GRCh37):g.190943239G>A 582 582 XR_171482.2:n.582C>T 1 615581 -701 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.001114 0.000610 0.000000 0.000000 0.000000 0.000000 0.000420 0.003948 0.000000 0.003948 16 3 0 0 0 0 2 11 0 14362 4916 500 34 850 0 4762 2786 514 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 0 0 0 0 2 11 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.110 -0.360 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 105.0 . . . . . . . . . . -0.4689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37211\x3bdist\x3d2284 dist\x3d58880\x3bdist\x3d2284 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0011 0 0 0 0.0039 0.0004 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 4 190943244 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943244 190943244 Chr4(GRCh37):g.190943244G>T 577 577 XR_171482.2:n.577C>A 1 615581 -706 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 transversion C A C>A 0.094 0.044 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 116.0 . . . . . . . . . . -0.0859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37216\x3bdist\x3d2279 dist\x3d58885\x3bdist\x3d2279 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 4 190943267 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943267 190943267 Chr4(GRCh37):g.190943267G>A 554 554 XR_171482.2:n.554C>T 1 615581 -729 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.004156 0.001610 0.002232 0.000000 0.000000 0.000000 0.002030 0.014790 0.002358 0.014790 47 6 1 0 0 0 8 31 1 11308 3726 448 34 640 0 3940 2096 424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 6 1 0 0 0 8 30 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition C T C>T 0.000 1.335 133 PASS . . . . . . . . . . . . . . . . 0.14569536 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . . . . . . . . . -0.1764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37239\x3bdist\x3d2256 dist\x3d58908\x3bdist\x3d2256 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0042 0.0022 0 0 0.0148 0.0020 0.0024 . . . . . . . . . . . 1.0E-133 . . . . . . . . . . . . rs36178874 rs36178874 . . 1 1538 16 1/0 0,216,255 +rs142375635 4 190943269 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943269 190943269 Chr4(GRCh37):g.190943269G>A 552 552 XR_171482.2:n.552C>T 1 615581 -731 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Donor Strongly Activated 190943271 66.4962 9.74045 0.844278 75.9381 rs142375635 yes no Frequency 1 0.000000 0 0.002586 0.001782 0.007843 0.000000 0.003275 0.000000 0.000890 0.006142 0.003571 0.007843 40 9 4 0 3 0 5 17 2 15466 5050 510 42 916 0 5620 2768 560 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 9 4 0 3 0 5 17 2 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition C T C>T 0.000 -3.023 181 PASS . . . . . . . . . . . . . . . . 0.17333333 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 150.0 . . . . . . . . . . -0.8886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.45 182 ENSG00000224807 . . . dist\x3d37241\x3bdist\x3d2254 dist\x3d58910\x3bdist\x3d2254 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0026 0.0078 0 0.0033 0.0061 0.0009 0.0036 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs142375635 rs142375635 1 1538 10 1/0 0,216,255 +. 4 190943271 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943271 190943271 Chr4(GRCh37):g.190943271C>T 550 550 XR_171482.2:n.550G>A 1 615581 -733 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 New Acceptor Site 190943269 3.45842 0.466786 73.3224 0.002002 0.000522 0.007092 0.000000 0.000000 0.000000 0.000982 0.006676 0.003135 0.007092 34 3 4 0 0 0 6 19 2 16986 5752 564 46 1030 0 6110 2846 638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 3 4 0 0 0 6 19 2 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition G A G>A 0.000 -0.360 191 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 153.0 . . . . . . . . . . -0.4177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37243\x3bdist\x3d2252 dist\x3d58912\x3bdist\x3d2252 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0020 0.0071 0 0 0.0067 0.0010 0.0031 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +rs143695007 4 190943280 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943280 190943280 Chr4(GRCh37):g.190943280C>T 541 541 XR_171482.2:n.541G>A 1 615581 -742 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs143695007 no no 0 0.000000 0 0.002453 0.000867 0.005682 0.000000 0.001969 0.000000 0.001002 0.006781 0.004525 0.006781 27 3 2 0 1 0 4 15 2 11008 3462 352 38 508 0 3994 2212 442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 3 2 0 1 0 4 15 2 0 0 0 0 0 0 0 0 0 RF 59 Genomes transition G A G>A 0.000 -1.247 129 PASS . . . . . . . . . . . . . . . . 0.18343195 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 169.0 . . . . . . . . . . -0.5237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.51 0.41 182 ENSG00000224807 . . . dist\x3d37252\x3bdist\x3d2243 dist\x3d58921\x3bdist\x3d2243 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0025 0.0057 0 0.0020 0.0068 0.0010 0.0045 . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . rs36187862 . rs143695007 rs143695007 1 1538 10 1/0 0,217,255 +rs557366453 4 190943311 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943311 190943311 Chr4(GRCh37):g.190943311C>T 510 510 XR_171482.2:n.510G>A 1 615581 -773 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Donor Strongly Activated 190943310 0.003188 59.6275 1.069 0.017983 68.5883 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16126 5280 570 52 944 0 5490 3196 594 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transition G A G>A 0.008 1.255 112 PASS . . . . . . . . . . . . . . . . 0.12790698 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 172.0 . . . . . . . . . . -0.2373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . 0.0004 . . . . . . ENSG00000224807 . . . dist\x3d37283\x3bdist\x3d2212 dist\x3d58952\x3bdist\x3d2212 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-112 . . . . . . . . . . . . rs36132895 rs36132895 . . 1 1538 10 1/0 0,210,255 +. 4 190943321 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943321 190943321 Chr4(GRCh37):g.190943321G>A 500 500 XR_171482.2:n.500C>T 1 615581 -783 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.008673 0.014019 0.010582 0.000000 0.001241 0.000000 0.002402 0.017975 0.007614 0.017975 89 33 4 0 1 0 10 38 3 10262 2354 378 52 806 0 4164 2114 394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition C T C>T 0.031 1.255 139 PASS . . . . . . . . . . . . . . . . 0.1736527 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 167.0 . . . . . . . . . . -0.1216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37293\x3bdist\x3d2202 dist\x3d58962\x3bdist\x3d2202 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0140 0.0087 0.0106 0 0.0012 0.0180 0.0024 0.0076 . . . . . . . . . . . 1.0E-139 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +rs201786386 4 190943350 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943350 190943350 Chr4(GRCh37):g.190943350G>A 471 471 XR_171482.2:n.471C>T 1 615581 -812 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs201786386 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7676 2332 328 18 346 0 1918 2446 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 54 Genomes transition C T C>T 0.000 -0.198 102 PASS . . . . . . . . . . . . . . . . 0.13571429 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 140.0 . . . . . . . . . . -0.4538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.53 0.41 182 ENSG00000224807 . . . dist\x3d37322\x3bdist\x3d2173 dist\x3d58991\x3bdist\x3d2173 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . . rs36171104 rs36171104 rs201786386 rs201786386 1 1538 10 1/0 0,222,255 +rs199941505 4 190943352 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943352 190943352 Chr4(GRCh37):g.190943352G>A 469 469 XR_171482.2:n.469C>T 1 615581 -814 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943343 0.011383 68.0548 1.28278 0.033639 70.7666 rs199941505 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4622 1348 172 6 214 0 1180 1506 196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 79 Genomes transition C T C>T 0.000 0.205 150 PASS . . . . . . . . . . . . . . . . 0.15172414 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 145.0 . . . . . . . . . . -0.2240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.38 182 ENSG00000224807 . . . dist\x3d37324\x3bdist\x3d2171 dist\x3d58993\x3bdist\x3d2171 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . . rs199941505 rs199941505 1 1538 10 1/0 0,217,255 +. 4 190943354 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943354 190943354 Chr4(GRCh37):g.190943354G>A 467 467 XR_171482.2:n.467C>T 1 615581 -816 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943343 0.011383 68.0548 1.13117 0.026979 72.1567 0.000235 0.000903 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000903 1 1 0 0 0 0 0 0 0 4248 1108 136 10 228 0 1126 1446 194 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 82 Genomes transition C T C>T 0.000 -1.247 115 PASS . . . . . . . . . . . . . . . . 0.13605443 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 147.0 . . . . . . . . . . -0.3849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37326\x3bdist\x3d2169 dist\x3d58995\x3bdist\x3d2169 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 4 190943357 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943357 190943357 Chr4(GRCh37):g.190943357C>T 464 464 XR_171482.2:n.464G>A 1 615581 -819 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 transition G A G>A 0.000 -0.037 146 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 152.0 . . . . . . . . . . -0.2759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37329\x3bdist\x3d2166 dist\x3d58998\x3bdist\x3d2166 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 4 190943392 C G - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943392 190943392 Chr4(GRCh37):g.190943392C>G 429 429 XR_171482.2:n.429G>C 1 615581 -854 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943383 0.000389 3.81256 0.002321 73.7325 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 522 92 12 2 36 0 108 256 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 296 Genomes transversion G C G>C 0.957 1.416 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . . . . . . . . . 0.1905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37364\x3bdist\x3d2131 dist\x3d59033\x3bdist\x3d2131 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +rs199851961 4 190943414 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943414 190943414 Chr4(GRCh37):g.190943414G>T 407 407 XR_171482.2:n.407C>A 1 615581 -876 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs199851961 yes no Frequency 1 0.000000 0 transversion C A C>A 0.744 1.416 178 PASS . . . . . . . . . . . . . . . . 0.108333334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 120.0 . . . . . . . . . . -0.1353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.55 0.35 182 ENSG00000224807 . . . dist\x3d37386\x3bdist\x3d2109 dist\x3d59055\x3bdist\x3d2109 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs199851961 rs199851961 1 1538 10 1/0 0,221,255 +. 4 190943420 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943420 190943420 Chr4(GRCh37):g.190943420G>A 401 401 XR_171482.2:n.401C>T 1 615581 -882 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 16 0 0 6 0 8 38 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1151 Genomes transition C T C>T 0.949 1.416 141 PASS . . . . . . . . . . . . . . . . 0.1559633 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 109.0 . . . . . . . . . . -0.0163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37392\x3bdist\x3d2103 dist\x3d59061\x3bdist\x3d2103 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-141 . . . . . . . . . . . . . rs71191802 . . 1 1538 10 1/0 0,232,255 +rs797033790 4 190943446 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943446 190943446 Chr4(GRCh37):g.190943446C>T 375 375 XR_171482.2:n.375G>A 1 615581 -908 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797033790 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.378 -1.893 231 PASS . . . . . . . . . . . . . . . . 0.24691358 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . . . . . . . . -0.7162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37418\x3bdist\x3d2077 dist\x3d59087\x3bdist\x3d2077 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +rs374777031 4 190943451 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943451 190943451 Chr4(GRCh37):g.190943451G>T 370 370 XR_171482.2:n.370C>A 1 615581 -913 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 New Acceptor Site 190943449 3.10351 0.213345 71.7195 rs374777031 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.378 -0.198 246 PASS . . . . . . . . . . . . . . . . 0.29545453 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 88.0 . . . . . . . . . . -0.3758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37423\x3bdist\x3d2072 dist\x3d59092\x3bdist\x3d2072 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . rs374777031 rs374777031 1 1538 10 1/0 0,253,255 +rs797024656 4 190943538 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943538 190943538 Chr4(GRCh37):g.190943538G>T 283 283 XR_171482.2:n.283C>A 1 615581 -1000 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797024656 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.000 -3.507 229 PASS . . . . . . . . . . . . . . . . 0.28846154 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . . . . . . . . . -1.0310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37510\x3bdist\x3d1985 dist\x3d59179\x3bdist\x3d1985 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs797024656 4 190943538 G T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943538 190943538 Chr4(GRCh37):g.190943538G>T *3178 *3178 NM_001286820.1:c.*3178C>A p.? p.? 4 609032 3684 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797024656 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.000 -3.507 229 PASS . . . . . . . . . . . . . . . . 0.28846154 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . . . . . . . . . -1.0310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37510\x3bdist\x3d1985 dist\x3d59179\x3bdist\x3d1985 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs376892850 4 190943546 G T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943546 190943546 Chr4(GRCh37):g.190943546G>T 275 275 XR_171482.2:n.275C>A 1 615581 -1008 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs376892850 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.000 -2.297 243 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 106.0 . . . . . . . . . . -0.8962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37518\x3bdist\x3d1977 dist\x3d59187\x3bdist\x3d1977 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs376892850 rs376892850 1 1538 10 1/0 0,239,255 +rs376892850 4 190943546 G T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943546 190943546 Chr4(GRCh37):g.190943546G>T *3170 *3170 NM_001286820.1:c.*3170C>A p.? p.? 4 609032 3676 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs376892850 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.000 -2.297 243 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 106.0 . . . . . . . . . . -0.8962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37518\x3bdist\x3d1977 dist\x3d59187\x3bdist\x3d1977 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs376892850 rs376892850 1 1538 10 1/0 0,239,255 +rs797038817 4 190943555 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943555 190943555 Chr4(GRCh37):g.190943555C>T 266 266 XR_171482.2:n.266G>A 1 615581 -1017 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797038817 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.024 0.286 129 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37527\x3bdist\x3d1968 dist\x3d59196\x3bdist\x3d1968 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . rs36152473 rs36152473 . . 1 1538 10 1/0 0,226,255 +rs797038817 4 190943555 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943555 190943555 Chr4(GRCh37):g.190943555C>T *3161 *3161 NM_001286820.1:c.*3161G>A p.? p.? 4 609032 3667 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797038817 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.024 0.286 129 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37527\x3bdist\x3d1968 dist\x3d59196\x3bdist\x3d1968 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . rs36152473 rs36152473 . . 1 1538 10 1/0 0,226,255 +rs797036995 4 190943573 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943573 190943573 Chr4(GRCh37):g.190943573C>T 248 248 XR_171482.2:n.248G>A 1 615581 -1035 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797036995 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.008 0.851 181 PASS . . . . . . . . . . . . . . . . 0.17730497 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 141.0 . . . . . . . . . . -0.1926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37545\x3bdist\x3d1950 dist\x3d59214\x3bdist\x3d1950 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs797036995 4 190943573 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943573 190943573 Chr4(GRCh37):g.190943573C>T *3143 *3143 NM_001286820.1:c.*3143G>A p.? p.? 4 609032 3649 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797036995 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.008 0.851 181 PASS . . . . . . . . . . . . . . . . 0.17730497 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 141.0 . . . . . . . . . . -0.1926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37545\x3bdist\x3d1950 dist\x3d59214\x3bdist\x3d1950 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs797024262 4 190943582 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943582 190943582 Chr4(GRCh37):g.190943582C>T 239 239 XR_171482.2:n.239G>A 1 615581 -1044 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797024262 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 19473 Genomes transition G A G>A 0.000 -0.924 160 PASS . . . . . . . . . . . . . . . . 0.1030303 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 165.0 . . . . . . . . . . -0.5244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37554\x3bdist\x3d1941 dist\x3d59223\x3bdist\x3d1941 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.08 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . rs36103403 rs36103403 . . 1 1538 10 1/0 0,205,255 +rs797024262 4 190943582 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943582 190943582 Chr4(GRCh37):g.190943582C>T *3134 *3134 NM_001286820.1:c.*3134G>A p.? p.? 4 609032 3640 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797024262 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 19473 Genomes transition G A G>A 0.000 -0.924 160 PASS . . . . . . . . . . . . . . . . 0.1030303 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 165.0 . . . . . . . . . . -0.5244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37554\x3bdist\x3d1941 dist\x3d59223\x3bdist\x3d1941 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.08 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . rs36103403 rs36103403 . . 1 1538 10 1/0 0,205,255 +rs797039522 4 190943585 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943585 190943585 Chr4(GRCh37):g.190943585C>T 236 236 XR_171482.2:n.236G>A 1 615581 -1047 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797039522 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 0 2 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13125 Genomes transition G A G>A 0.000 -1.974 115 PASS . . . . . . . . . . . . . . . . 0.11299435 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 177.0 . . . . . . . . . . -0.7528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37557\x3bdist\x3d1938 dist\x3d59226\x3bdist\x3d1938 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . 0 0 0 . . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . rs34867517 rs34867517 . . 1 1538 16 1/0 0,206,255 +rs797039522 4 190943585 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943585 190943585 Chr4(GRCh37):g.190943585C>T *3131 *3131 NM_001286820.1:c.*3131G>A p.? p.? 4 609032 3637 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797039522 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 0 2 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13125 Genomes transition G A G>A 0.000 -1.974 115 PASS . . . . . . . . . . . . . . . . 0.11299435 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 177.0 . . . . . . . . . . -0.7528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37557\x3bdist\x3d1938 dist\x3d59226\x3bdist\x3d1938 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . 0 0 0 . . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . rs34867517 rs34867517 . . 1 1538 16 1/0 0,206,255 +rs797044193 4 190943603 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943603 190943603 Chr4(GRCh37):g.190943603C>T 218 218 XR_171482.2:n.218G>A 1 615581 -1065 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797044193 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 4 4 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8307 Genomes transition G A G>A 0.000 1.416 149 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 212.0 . . . . . . . . . . -0.2357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37575\x3bdist\x3d1920 dist\x3d59244\x3bdist\x3d1920 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 0 0 . . . . . . . . . . . 1.0E-149 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs797044193 4 190943603 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943603 190943603 Chr4(GRCh37):g.190943603C>T *3113 *3113 NM_001286820.1:c.*3113G>A p.? p.? 4 609032 3619 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797044193 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 4 4 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8307 Genomes transition G A G>A 0.000 1.416 149 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 212.0 . . . . . . . . . . -0.2357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37575\x3bdist\x3d1920 dist\x3d59244\x3bdist\x3d1920 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 0 0 . . . . . . . . . . . 1.0E-149 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs797034432 4 190943604 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943604 190943604 Chr4(GRCh37):g.190943604G>A 217 217 XR_171482.2:n.217C>T 1 615581 -1066 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797034432 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 4 0 0 0 0 4 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8236 Genomes transition C T C>T 0.000 0.367 153 PASS . . . . . . . . . . . . . . . . 0.16972478 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 218.0 . . . . . . . . . . -0.2048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37576\x3bdist\x3d1919 dist\x3d59245\x3bdist\x3d1919 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 0 . . . . . . . . . . . 1.0E-153 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,202,255 +rs797034432 4 190943604 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943604 190943604 Chr4(GRCh37):g.190943604G>A *3112 *3112 NM_001286820.1:c.*3112C>T p.? p.? 4 609032 3618 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797034432 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 4 0 0 0 0 4 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8236 Genomes transition C T C>T 0.000 0.367 153 PASS . . . . . . . . . . . . . . . . 0.16972478 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 218.0 . . . . . . . . . . -0.2048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37576\x3bdist\x3d1919 dist\x3d59245\x3bdist\x3d1919 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 0 . . . . . . . . . . . 1.0E-153 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,202,255 +rs797040359 4 190943625 A G - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943625 190943625 Chr4(GRCh37):g.190943625A>G 196 196 XR_171482.2:n.196T>C 1 615581 -1087 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797040359 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 2 0 0 2 0 26 10 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1981 Genomes transition T C T>C 0.087 0.528 176 PASS . . . . . . . . . . . . . . . . 0.103896104 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 231.0 . . . . . . . . . . -0.1955 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37597\x3bdist\x3d1898 dist\x3d59266\x3bdist\x3d1898 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs4863308 rs4863308 . . 1 1538 10 1/0 0,190,255 +rs797040359 4 190943625 A G - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943625 190943625 Chr4(GRCh37):g.190943625A>G *3091 *3091 NM_001286820.1:c.*3091T>C p.? p.? 4 609032 3597 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797040359 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 2 0 0 2 0 26 10 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1981 Genomes transition T C T>C 0.087 0.528 176 PASS . . . . . . . . . . . . . . . . 0.103896104 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 231.0 . . . . . . . . . . -0.1955 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37597\x3bdist\x3d1898 dist\x3d59266\x3bdist\x3d1898 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs4863308 rs4863308 . . 1 1538 10 1/0 0,190,255 +rs201798337 4 190943645 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943645 190943645 Chr4(GRCh37):g.190943645G>A 176 176 XR_171482.2:n.176C>T 1 615581 -1107 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs201798337 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 140 16 2 0 8 0 70 36 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 638 Genomes transition C T C>T 0.031 1.416 160 PASS . . . . . . . . . . . . . . . . 0.12267658 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 269.0 . . . . . . . . . . -0.2132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.3 182 ENSG00000224807 . . . dist\x3d37617\x3bdist\x3d1878 dist\x3d59286\x3bdist\x3d1878 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . rs36127111 rs36127111 rs201798337 rs201798337 1 1538 15 1/0 0,186,255 +rs201798337 4 190943645 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943645 190943645 Chr4(GRCh37):g.190943645G>A *3071 *3071 NM_001286820.1:c.*3071C>T p.? p.? 4 609032 3577 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs201798337 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 140 16 2 0 8 0 70 36 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 638 Genomes transition C T C>T 0.031 1.416 160 PASS . . . . . . . . . . . . . . . . 0.12267658 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 269.0 . . . . . . . . . . -0.2132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.54 0.3 182 ENSG00000224807 . . . dist\x3d37617\x3bdist\x3d1878 dist\x3d59286\x3bdist\x3d1878 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . rs36127111 rs36127111 rs201798337 rs201798337 1 1538 15 1/0 0,186,255 +. 4 190943652 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943652 190943652 Chr4(GRCh37):g.190943652C>T 169 169 XR_171482.2:n.169G>A 1 615581 -1114 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 162 12 2 0 10 0 88 40 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 545 Genomes transition G A G>A 0.063 1.416 150 PASS . . . . . . . . . . . . . . . . 0.115523465 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 277.0 . . . . . . . . . . -0.2106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37624\x3bdist\x3d1871 dist\x3d59293\x3bdist\x3d1871 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . rs71225874 . . 1 1538 10 1/0 0,185,255 +. 4 190943652 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943652 190943652 Chr4(GRCh37):g.190943652C>T *3064 *3064 NM_001286820.1:c.*3064G>A p.? p.? 4 609032 3570 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 162 12 2 0 10 0 88 40 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 545 Genomes transition G A G>A 0.063 1.416 150 PASS . . . . . . . . . . . . . . . . 0.115523465 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 277.0 . . . . . . . . . . -0.2106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37624\x3bdist\x3d1871 dist\x3d59293\x3bdist\x3d1871 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . rs71225874 . . 1 1538 10 1/0 0,185,255 +rs200258604 4 190943670 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943670 190943670 Chr4(GRCh37):g.190943670G>A 151 151 XR_171482.2:n.151C>T 1 615581 -1132 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs200258604 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148 6 0 0 14 0 82 40 6 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 651 Genomes transition C T C>T 0.031 -2.054 129 PASS . . . . . . . . . . . . . . . . 0.19172932 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 266.0 . . . . . . . . . . -0.7836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.31 182 ENSG00000224807 . . . dist\x3d37642\x3bdist\x3d1853 dist\x3d59311\x3bdist\x3d1853 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . . . rs200258604 rs200258604 1 1538 15 1/0 0,199,255 +rs200258604 4 190943670 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943670 190943670 Chr4(GRCh37):g.190943670G>A *3046 *3046 NM_001286820.1:c.*3046C>T p.? p.? 4 609032 3552 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs200258604 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148 6 0 0 14 0 82 40 6 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 651 Genomes transition C T C>T 0.031 -2.054 129 PASS . . . . . . . . . . . . . . . . 0.19172932 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 266.0 . . . . . . . . . . -0.7836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.56 0.31 182 ENSG00000224807 . . . dist\x3d37642\x3bdist\x3d1853 dist\x3d59311\x3bdist\x3d1853 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 0 0 0 . . . . . . . . . . . 1.0E-129 . . . . . . . . . . . . . . rs200258604 rs200258604 1 1538 15 1/0 0,199,255 +rs368412983 4 190943682 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943682 190943682 Chr4(GRCh37):g.190943682C>T 139 139 XR_171482.2:n.139G>A 1 615581 -1144 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs368412983 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 376 48 6 2 18 0 198 88 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 321 Genomes transition G A G>A 0.024 -0.844 123 PASS . . . . . . . . . . . . . . . . 0.1870229 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 262.0 . . . . . . . . . . -0.4624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37654\x3bdist\x3d1841 dist\x3d59323\x3bdist\x3d1841 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-123 . . . . . . . . . . . . . . rs368412983 rs368412983 1 1538 15 1/0 0,200,255 +rs368412983 4 190943682 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943682 190943682 Chr4(GRCh37):g.190943682C>T *3034 *3034 NM_001286820.1:c.*3034G>A p.? p.? 4 609032 3540 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs368412983 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 376 48 6 2 18 0 198 88 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 321 Genomes transition G A G>A 0.024 -0.844 123 PASS . . . . . . . . . . . . . . . . 0.1870229 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 262.0 . . . . . . . . . . -0.4624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37654\x3bdist\x3d1841 dist\x3d59323\x3bdist\x3d1841 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-123 . . . . . . . . . . . . . . rs368412983 rs368412983 1 1538 15 1/0 0,200,255 +. 4 190943683 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943683 190943683 Chr4(GRCh37):g.190943683G>A 138 138 XR_171482.2:n.138C>T 1 615581 -1145 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Strongly Activated 190943674 II.84 0.010341 67.8086 3.75685 0.032362 70.5205 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 426 48 8 4 20 0 216 110 20 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 287 Genomes transition C T C>T 0.016 -1.247 145 PASS . . . . . . . . . . . . . . . . 0.13178295 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 258.0 . . . . . . . . . . -0.5950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37655\x3bdist\x3d1840 dist\x3d59324\x3bdist\x3d1840 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,190,255 +. 4 190943683 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943683 190943683 Chr4(GRCh37):g.190943683G>A *3033 *3033 NM_001286820.1:c.*3033C>T p.? p.? 4 609032 3539 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 Cryptic Acceptor Strongly Activated 190943674 II.84 0.010341 67.8086 3.75685 0.032362 70.5205 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 426 48 8 4 20 0 216 110 20 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 287 Genomes transition C T C>T 0.016 -1.247 145 PASS . . . . . . . . . . . . . . . . 0.13178295 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 258.0 . . . . . . . . . . -0.5950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37655\x3bdist\x3d1840 dist\x3d59324\x3bdist\x3d1840 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,190,255 +rs75709868 4 190943695 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943695 190943695 Chr4(GRCh37):g.190943695C>T 126 126 XR_171482.2:n.126G>A 1 615581 -1157 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs75709868 no no 0 0.000000 0 0.004717 0.000000 0.000000 0.000000 0.000000 0.000000 0.003333 0.013158 0.000000 0.013158 3 0 0 0 0 0 1 2 0 636 106 14 2 30 0 300 152 32 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 228 Genomes transition G A G>A 0.055 -0.117 127 PASS . . . . . . . . . . . . . . . . 0.16450216 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 231.0 . . . . . . . . . . -0.3873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37667\x3bdist\x3d1828 dist\x3d59336\x3bdist\x3d1828 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0047 0 0 0 0.0132 0.0033 0 . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,202,255 +rs75709868 4 190943695 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943695 190943695 Chr4(GRCh37):g.190943695C>T *3021 *3021 NM_001286820.1:c.*3021G>A p.? p.? 4 609032 3527 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs75709868 no no 0 0.000000 0 0.004717 0.000000 0.000000 0.000000 0.000000 0.000000 0.003333 0.013158 0.000000 0.013158 3 0 0 0 0 0 1 2 0 636 106 14 2 30 0 300 152 32 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 228 Genomes transition G A G>A 0.055 -0.117 127 PASS . . . . . . . . . . . . . . . . 0.16450216 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 231.0 . . . . . . . . . . -0.3873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37667\x3bdist\x3d1828 dist\x3d59336\x3bdist\x3d1828 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0047 0 0 0 0.0132 0.0033 0 . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,202,255 +rs201035371 4 190943702 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943702 190943702 Chr4(GRCh37):g.190943702C>T 119 119 XR_171482.2:n.119G>A 1 615581 -1164 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs201035371 no no 0 0.000000 0 0.004124 0.007246 0.000000 0.000000 0.000000 0.000000 0.004149 0.004386 0.000000 0.007246 4 1 0 0 0 0 2 1 0 970 138 14 8 54 0 482 228 46 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 163 Genomes transition G A G>A 0.031 0.205 204 PASS . . . . . . . . . . . . . . . . 0.16877638 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 237.0 . . . . . . . . . . -0.3410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.35 182 ENSG00000224807 . . . dist\x3d37674\x3bdist\x3d1821 dist\x3d59343\x3bdist\x3d1821 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0072 0.0041 0 0 0 0.0044 0.0041 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs201035371 rs201035371 1 1538 10 1/0 0,195,255 +rs201035371 4 190943702 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943702 190943702 Chr4(GRCh37):g.190943702C>T *3014 *3014 NM_001286820.1:c.*3014G>A p.? p.? 4 609032 3520 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs201035371 no no 0 0.000000 0 0.004124 0.007246 0.000000 0.000000 0.000000 0.000000 0.004149 0.004386 0.000000 0.007246 4 1 0 0 0 0 2 1 0 970 138 14 8 54 0 482 228 46 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 163 Genomes transition G A G>A 0.031 0.205 204 PASS . . . . . . . . . . . . . . . . 0.16877638 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 237.0 . . . . . . . . . . -0.3410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.35 182 ENSG00000224807 . . . dist\x3d37674\x3bdist\x3d1821 dist\x3d59343\x3bdist\x3d1821 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0072 0.0041 0 0 0 0.0044 0.0041 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs201035371 rs201035371 1 1538 10 1/0 0,195,255 +rs146023392 4 190943763 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution exon GRCh37 190943763 190943763 Chr4(GRCh37):g.190943763G>A 58 58 XR_171482.2:n.58C>T 1 615581 -1225 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs146023392 no no 0 0.000000 0 0.000859 0.004425 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004425 5 5 0 0 0 0 0 0 0 5824 1130 128 38 170 0 2920 1218 220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.000 -0.279 144 PASS . . . . . . . . . . . . . . . . 0.15053764 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . . . . . . . . . -0.4379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.35 182 ENSG00000224807 . . . dist\x3d37735\x3bdist\x3d1760 dist\x3d59404\x3bdist\x3d1760 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0009 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-144 . . . . . . . . . . . . . . rs146023392 rs146023392 1 1538 10 1/0 0,237,255 +rs146023392 4 190943763 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943763 190943763 Chr4(GRCh37):g.190943763G>A *2953 *2953 NM_001286820.1:c.*2953C>T p.? p.? 4 609032 3459 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs146023392 no no 0 0.000000 0 0.000859 0.004425 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004425 5 5 0 0 0 0 0 0 0 5824 1130 128 38 170 0 2920 1218 220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.000 -0.279 144 PASS . . . . . . . . . . . . . . . . 0.15053764 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . . . . . . . . . -0.4379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.6 0.35 182 ENSG00000224807 . . . dist\x3d37735\x3bdist\x3d1760 dist\x3d59404\x3bdist\x3d1760 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0009 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-144 . . . . . . . . . . . . . . rs146023392 rs146023392 1 1538 10 1/0 0,237,255 +. 4 190943824 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943824 190943824 Chr4(GRCh37):g.190943824G>A -4 -4 XR_171482.2:n.-4C>T p.? p.? 1 615581 -1286 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10864 2444 282 66 362 0 5468 1862 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transition C T C>T 0.000 0.690 159 PASS . . . . . . . . . . . . . . . . 0.116504855 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 103.0 . . . . . . . . . . -0.1592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37796\x3bdist\x3d1699 dist\x3d59465\x3bdist\x3d1699 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . . . rs71199468 . . 1 1538 10 1/0 0,227,255 +. 4 190943824 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943824 190943824 Chr4(GRCh37):g.190943824G>A *2892 *2892 NM_001286820.1:c.*2892C>T p.? p.? 4 609032 3398 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10864 2444 282 66 362 0 5468 1862 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transition C T C>T 0.000 0.690 159 PASS . . . . . . . . . . . . . . . . 0.116504855 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 103.0 . . . . . . . . . . -0.1592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37796\x3bdist\x3d1699 dist\x3d59465\x3bdist\x3d1699 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . . . rs71199468 . . 1 1538 10 1/0 0,227,255 +rs77206212 4 190943826 T G - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943826 190943826 Chr4(GRCh37):g.190943826T>G -6 -6 XR_171482.2:n.-6A>C p.? p.? 1 615581 -1288 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs77206212 no no 0 0.000000 0 0.006385 0.014825 0.000000 0.000000 0.040541 0.000000 0.002825 0.007527 0.006667 0.040541 29 11 0 0 3 0 7 7 1 4542 742 122 46 74 0 2478 930 150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 11 0 0 3 0 7 7 1 0 0 0 0 0 0 0 0 0 RF 83 Genomes transversion A C A>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.60784316 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . . . . . . . . . -0.3882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.58 0.27 182 ENSG00000224807 . . . dist\x3d37798\x3bdist\x3d1697 dist\x3d59467\x3bdist\x3d1697 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0148 0.0064 0 0 0.0405 0.0075 0.0028 0.0067 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201441363 rs201441363 1 1538 10 1/0 0,255,255 +rs77206212 4 190943826 T G - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943826 190943826 Chr4(GRCh37):g.190943826T>G *2890 *2890 NM_001286820.1:c.*2890A>C p.? p.? 4 609032 3396 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs77206212 no no 0 0.000000 0 0.006385 0.014825 0.000000 0.000000 0.040541 0.000000 0.002825 0.007527 0.006667 0.040541 29 11 0 0 3 0 7 7 1 4542 742 122 46 74 0 2478 930 150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 11 0 0 3 0 7 7 1 0 0 0 0 0 0 0 0 0 RF 83 Genomes transversion A C A>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.60784316 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . . . . . . . . . -0.3882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.58 0.27 182 ENSG00000224807 . . . dist\x3d37798\x3bdist\x3d1697 dist\x3d59467\x3bdist\x3d1697 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0148 0.0064 0 0 0.0405 0.0075 0.0028 0.0067 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201441363 rs201441363 1 1538 10 1/0 0,255,255 +. 4 190943834 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943834 190943834 Chr4(GRCh37):g.190943834G>A -14 -14 XR_171482.2:n.-14C>T p.? p.? 1 615581 -1296 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.001138 0.001011 0.000000 0.000000 0.004065 0.000000 0.001380 0.000624 0.000000 0.004065 10 2 0 0 1 0 6 1 0 8786 1978 232 70 246 0 4348 1602 310 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 2 0 0 1 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.126 0.125 166 PASS . . . . . . . . . . . . . . . . 0.1588785 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . . . . . . . . . -0.3261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37806\x3bdist\x3d1689 dist\x3d59475\x3bdist\x3d1689 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0011 0 0 0.0041 0.0006 0.0014 0 . . . . . . . . . . . 1.0E-166 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +. 4 190943834 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943834 190943834 Chr4(GRCh37):g.190943834G>A *2882 *2882 NM_001286820.1:c.*2882C>T p.? p.? 4 609032 3388 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.001138 0.001011 0.000000 0.000000 0.004065 0.000000 0.001380 0.000624 0.000000 0.004065 10 2 0 0 1 0 6 1 0 8786 1978 232 70 246 0 4348 1602 310 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 2 0 0 1 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.126 0.125 166 PASS . . . . . . . . . . . . . . . . 0.1588785 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . . . . . . . . . -0.3261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37806\x3bdist\x3d1689 dist\x3d59475\x3bdist\x3d1689 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0011 0 0 0.0041 0.0006 0.0014 0 . . . . . . . . . . . 1.0E-166 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +rs797030142 4 190943838 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943838 190943838 Chr4(GRCh37):g.190943838G>A -18 -18 XR_171482.2:n.-18C>T p.? p.? 1 615581 -1300 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797030142 no no 0 0.000000 0 0.000343 0.000545 0.000000 0.000000 0.000000 0.000000 0.000456 0.000000 0.000000 0.000545 3 1 0 0 0 0 2 0 0 8744 1836 242 80 266 0 4390 1632 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.268 1.093 189 PASS . . . . . . . . . . . . . . . . 0.13274336 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.3813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37810\x3bdist\x3d1685 dist\x3d59479\x3bdist\x3d1685 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs797030142 4 190943838 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943838 190943838 Chr4(GRCh37):g.190943838G>A *2878 *2878 NM_001286820.1:c.*2878C>T p.? p.? 4 609032 3384 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797030142 no no 0 0.000000 0 0.000343 0.000545 0.000000 0.000000 0.000000 0.000000 0.000456 0.000000 0.000000 0.000545 3 1 0 0 0 0 2 0 0 8744 1836 242 80 266 0 4390 1632 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.268 1.093 189 PASS . . . . . . . . . . . . . . . . 0.13274336 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.3813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37810\x3bdist\x3d1685 dist\x3d59479\x3bdist\x3d1685 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 4 190943848 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943848 190943848 Chr4(GRCh37):g.190943848G>A -28 -28 XR_171482.2:n.-28C>T p.? p.? 1 615581 -1310 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000452 0.000522 0.000000 0.000000 0.000000 0.000000 0.000441 0.000661 0.000000 0.000661 4 1 0 0 0 0 2 1 0 8848 1916 212 66 284 0 4536 1512 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.063 -0.763 180 PASS . . . . . . . . . . . . . . . . 0.15315315 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 111.0 . . . . . . . . . . -0.5053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.57 0.27 182 ENSG00000224807 . . . dist\x3d37820\x3bdist\x3d1675 dist\x3d59489\x3bdist\x3d1675 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0005 0 0 0 0.0007 0.0004 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75749426 rs75749426 1 1538 10 1/0 0,230,255 +. 4 190943848 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943848 190943848 Chr4(GRCh37):g.190943848G>A *2868 *2868 NM_001286820.1:c.*2868C>T p.? p.? 4 609032 3374 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000452 0.000522 0.000000 0.000000 0.000000 0.000000 0.000441 0.000661 0.000000 0.000661 4 1 0 0 0 0 2 1 0 8848 1916 212 66 284 0 4536 1512 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.063 -0.763 180 PASS . . . . . . . . . . . . . . . . 0.15315315 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 111.0 . . . . . . . . . . -0.5053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.57 0.27 182 ENSG00000224807 . . . dist\x3d37820\x3bdist\x3d1675 dist\x3d59489\x3bdist\x3d1675 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0005 0 0 0 0.0007 0.0004 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75749426 rs75749426 1 1538 10 1/0 0,230,255 +rs797035313 4 190943851 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943851 190943851 Chr4(GRCh37):g.190943851C>T -31 -31 XR_171482.2:n.-31G>A p.? p.? 1 615581 -1313 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs797035313 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8876 1760 240 64 252 0 4574 1670 316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Genomes transition G A G>A 0.087 0.286 115 PASS . . . . . . . . . . . . . . . . 0.13392857 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . -0.3355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37823\x3bdist\x3d1672 dist\x3d59492\x3bdist\x3d1672 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs797035313 4 190943851 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943851 190943851 Chr4(GRCh37):g.190943851C>T *2865 *2865 NM_001286820.1:c.*2865G>A p.? p.? 4 609032 3371 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs797035313 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8876 1760 240 64 252 0 4574 1670 316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Genomes transition G A G>A 0.087 0.286 115 PASS . . . . . . . . . . . . . . . . 0.13392857 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . -0.3355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37823\x3bdist\x3d1672 dist\x3d59492\x3bdist\x3d1672 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-115 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +. 4 190943852 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943852 190943852 Chr4(GRCh37):g.190943852G>A -32 -32 XR_171482.2:n.-32C>T p.? p.? 1 615581 -1314 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000845 0.002049 0.000000 0.000000 0.000000 0.000000 0.000206 0.001765 0.000000 0.002049 8 4 0 0 0 0 1 3 0 9466 1952 254 70 294 0 4852 1700 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition C T C>T 0.094 -0.521 180 PASS . . . . . . . . . . . . . . . . 0.11214953 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . . . . . . . . . -0.5406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37824\x3bdist\x3d1671 dist\x3d59493\x3bdist\x3d1671 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0008 0 0 0 0.0018 0.0002 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 4 190943852 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943852 190943852 Chr4(GRCh37):g.190943852G>A *2864 *2864 NM_001286820.1:c.*2864C>T p.? p.? 4 609032 3370 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000845 0.002049 0.000000 0.000000 0.000000 0.000000 0.000206 0.001765 0.000000 0.002049 8 4 0 0 0 0 1 3 0 9466 1952 254 70 294 0 4852 1700 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition C T C>T 0.094 -0.521 180 PASS . . . . . . . . . . . . . . . . 0.11214953 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . . . . . . . . . -0.5406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37824\x3bdist\x3d1671 dist\x3d59493\x3bdist\x3d1671 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0008 0 0 0 0.0018 0.0002 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +rs79265429 4 190943856 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943856 190943856 Chr4(GRCh37):g.190943856G>A -36 -36 XR_171482.2:n.-36C>T p.? p.? 1 615581 -1318 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs79265429 no no 0 0.000000 0 0.002776 0.007092 0.000000 0.000000 0.000000 0.000000 0.001685 0.004090 0.000000 0.007092 12 4 0 0 0 0 4 4 0 4322 564 128 46 72 0 2374 978 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 4 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 RF 80 Genomes transition C T C>T 0.094 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.7676768 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . . . . . . . . . -0.6275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.59 0.26 182 ENSG00000224807 . . . dist\x3d37828\x3bdist\x3d1667 dist\x3d59497\x3bdist\x3d1667 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0071 0.0028 0 0 0 0.0041 0.0017 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79265429 rs138640182 1 1538 10 1/0 0,255,255 +rs79265429 4 190943856 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943856 190943856 Chr4(GRCh37):g.190943856G>A *2860 *2860 NM_001286820.1:c.*2860C>T p.? p.? 4 609032 3366 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs79265429 no no 0 0.000000 0 0.002776 0.007092 0.000000 0.000000 0.000000 0.000000 0.001685 0.004090 0.000000 0.007092 12 4 0 0 0 0 4 4 0 4322 564 128 46 72 0 2374 978 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 4 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 RF 80 Genomes transition C T C>T 0.094 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.7676768 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . . . . . . . . . -0.6275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.59 0.26 182 ENSG00000224807 . . . dist\x3d37828\x3bdist\x3d1667 dist\x3d59497\x3bdist\x3d1667 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0071 0.0028 0 0 0 0.0041 0.0017 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79265429 rs138640182 1 1538 10 1/0 0,255,255 +rs79507670 4 190943857 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943857 190943857 Chr4(GRCh37):g.190943857C>T -37 -37 XR_171482.2:n.-37G>A p.? p.? 1 615581 -1319 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Donor Strongly Activated 190943856 0.002768 57.0604 I.93 0.181659 66.0212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8500 1686 236 70 248 0 4328 1626 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition G A G>A 0.102 -0.521 216 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . -0.3229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.59 0.31 182 ENSG00000224807 . . . dist\x3d37829\x3bdist\x3d1666 dist\x3d59498\x3bdist\x3d1666 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs79507670 4 190943857 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943857 190943857 Chr4(GRCh37):g.190943857C>T *2859 *2859 NM_001286820.1:c.*2859G>A p.? p.? 4 609032 3365 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 Cryptic Donor Strongly Activated 190943856 0.002768 57.0604 I.93 0.181659 66.0212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8500 1686 236 70 248 0 4328 1626 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition G A G>A 0.102 -0.521 216 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . -0.3229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.59 0.31 182 ENSG00000224807 . . . dist\x3d37829\x3bdist\x3d1666 dist\x3d59498\x3bdist\x3d1666 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +. 4 190943858 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943858 190943858 Chr4(GRCh37):g.190943858G>A -38 -38 XR_171482.2:n.-38C>T p.? p.? 1 615581 -1320 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 0.000124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000243 0.000000 0.000000 0.000243 1 0 0 0 0 0 1 0 0 8062 1554 214 58 250 0 4110 1588 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition C T C>T 0.118 -0.440 104 PASS . . . . . . . . . . . . . . . . 0.11504425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.5363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37830\x3bdist\x3d1665 dist\x3d59499\x3bdist\x3d1665 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-104 . . . . . . . . . . . . . . . . 1 1538 16 1/0 0,229,255 +. 4 190943858 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943858 190943858 Chr4(GRCh37):g.190943858G>A *2858 *2858 NM_001286820.1:c.*2858C>T p.? p.? 4 609032 3364 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 0.000124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000243 0.000000 0.000000 0.000243 1 0 0 0 0 0 1 0 0 8062 1554 214 58 250 0 4110 1588 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition C T C>T 0.118 -0.440 104 PASS . . . . . . . . . . . . . . . . 0.11504425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.5363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37830\x3bdist\x3d1665 dist\x3d59499\x3bdist\x3d1665 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-104 . . . . . . . . . . . . . . . . 1 1538 16 1/0 0,229,255 +rs191466057 4 190943873 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943873 190943873 Chr4(GRCh37):g.190943873G>A -53 -53 XR_171482.2:n.-53C>T p.? p.? 1 615581 -1335 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs191466057 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8768 1794 238 66 290 0 4504 1562 314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 39 Genomes transition C T C>T 0.902 -1.732 201 PASS . . . . . . . . . . . . . . . . 0.16239317 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 117.0 . . . . . . . . . . -0.7010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.58 0.27 182 ENSG00000224807 . . . dist\x3d37845\x3bdist\x3d1650 dist\x3d59514\x3bdist\x3d1650 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs76265179 rs191466057 1 1538 10 1/0 0,225,255 +rs191466057 4 190943873 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943873 190943873 Chr4(GRCh37):g.190943873G>A *2843 *2843 NM_001286820.1:c.*2843C>T p.? p.? 4 609032 3349 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs191466057 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8768 1794 238 66 290 0 4504 1562 314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 39 Genomes transition C T C>T 0.902 -1.732 201 PASS . . . . . . . . . . . . . . . . 0.16239317 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 117.0 . . . . . . . . . . -0.7010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.58 0.27 182 ENSG00000224807 . . . dist\x3d37845\x3bdist\x3d1650 dist\x3d59514\x3bdist\x3d1650 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs76265179 rs191466057 1 1538 10 1/0 0,225,255 +rs797027755 4 190943884 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943884 190943884 Chr4(GRCh37):g.190943884G>A -64 -64 XR_171482.2:n.-64C>T p.? p.? 1 615581 -1346 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Donor Strongly Activated 190943890 2.12739 0.02933 63.8675 2.98609 0.127181 69.6461 rs797027755 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8682 1694 222 68 296 0 4534 1570 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 38 Genomes transition C T C>T 0.965 0.125 184 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 116.0 . . . . . . . . . . -0.3334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37856\x3bdist\x3d1639 dist\x3d59525\x3bdist\x3d1639 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs797027755 4 190943884 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943884 190943884 Chr4(GRCh37):g.190943884G>A *2832 *2832 NM_001286820.1:c.*2832C>T p.? p.? 4 609032 3338 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 Cryptic Donor Strongly Activated 190943890 2.12739 0.02933 63.8675 2.98609 0.127181 69.6461 rs797027755 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8682 1694 222 68 296 0 4534 1570 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 38 Genomes transition C T C>T 0.965 0.125 184 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 116.0 . . . . . . . . . . -0.3334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000224807 . . . dist\x3d37856\x3bdist\x3d1639 dist\x3d59525\x3bdist\x3d1639 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs113278294 4 190943910 C T - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943910 190943910 Chr4(GRCh37):g.190943910C>T -90 -90 XR_171482.2:n.-90G>A p.? p.? 1 615581 -1372 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 rs113278294 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7330 1158 204 64 254 0 3978 1394 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes transition G A G>A 0.937 0.125 184 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . . . . . . . . -0.2945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.57 0.28 182 ENSG00000224807 . . . dist\x3d37882\x3bdist\x3d1613 dist\x3d59551\x3bdist\x3d1613 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.011 . . rs113278294 rs113278294 1 1538 10 1/0 0,250,255 +rs113278294 4 190943910 C T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943910 190943910 Chr4(GRCh37):g.190943910C>T *2806 *2806 NM_001286820.1:c.*2806G>A p.? p.? 4 609032 3312 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 rs113278294 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7330 1158 204 64 254 0 3978 1394 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes transition G A G>A 0.937 0.125 184 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . . . . . . . . -0.2945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.57 0.28 182 ENSG00000224807 . . . dist\x3d37882\x3bdist\x3d1613 dist\x3d59551\x3bdist\x3d1613 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.011 . . rs113278294 rs113278294 1 1538 10 1/0 0,250,255 +rs200598338 4 190943911 G A - DUX4L9 33855 Double homeobox 4 like 9 XR_171482.2 -1 1909 0 substitution upstream GRCh37 190943911 190943911 Chr4(GRCh37):g.190943911G>A -91 -91 XR_171482.2:n.-91C>T p.? p.? 1 615581 -1373 5' 68.5228 0 0.015652 0 68.5228 0 0.015652 0 0 Cryptic Acceptor Weakly Activated 190943906 4.00598 0.112939 71.9143 3.65862 0.156038 75.4599 rs200598338 no no 0 0.000000 0 0.000293 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001650 0.000000 0.001650 2 0 0 0 0 0 0 2 0 6828 1164 188 62 256 0 3706 1212 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.953 0.125 205 PASS . . . . . . . . . . . . . . . . 0.17073171 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . . . . . . . . . -0.3550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.62 0.3 182 ENSG00000224807 . . . dist\x3d37883\x3bdist\x3d1612 dist\x3d59552\x3bdist\x3d1612 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0.0017 0 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs200598338 rs200598338 1 1538 10 1/0 0,243,255 +rs200598338 4 190943911 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution downstream GRCh37 190943911 190943911 Chr4(GRCh37):g.190943911G>A *2805 *2805 NM_001286820.1:c.*2805C>T p.? p.? 4 609032 3311 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 Cryptic Acceptor Weakly Activated 190943906 4.00598 0.112939 71.9143 3.65862 0.156038 75.4599 rs200598338 no no 0 0.000000 0 0.000293 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001650 0.000000 0.001650 2 0 0 0 0 0 0 2 0 6828 1164 188 62 256 0 3706 1212 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.953 0.125 205 PASS . . . . . . . . . . . . . . . . 0.17073171 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . . . . . . . . . -0.3550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.62 0.3 182 ENSG00000224807 . . . dist\x3d37883\x3bdist\x3d1612 dist\x3d59552\x3bdist\x3d1612 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0.0017 0 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs200598338 rs200598338 1 1538 10 1/0 0,243,255 +. 4 190946748 T G - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution missense exon GRCh37 190946748 190946748 Chr4(GRCh37):g.190946748T>G 808 808 NM_001286820.1:c.808A>C p.Thr270Pro p.Thr270Pro 4 609032 474 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 COSM6391115 Thyroid 0.001339 747 transversion A C A>C 0.051 -1.812 T Thr ACT 0.243 P Pro CCT 0.283 270 11 3 Gorilla -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.3 III.35 217 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.005 . . 43.0 . . . . . . . . . . -2.1412 -2.181 -2.141 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . 0.106 @ . . . 0.38 0.34 182 ENSG00000205097 LOC100288255 FRG2 . . . 0.958 0.283 . . . . . . . Uncertain_significance . 0 . 0.008 . . . . T 0.011 0.001 . . 37 . 0.103 . . 0.197 . . . 0.016 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.089 . HET 1 . . . . . . . . . . . . . . . . 0.352 -0.703 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.829 -1.829000 . . 1.000000 . . 1.0E-217 0.000 0.063 . 0.016 0.261 . 0.006 . 0.000 -1.829 -1.470 . . . rs74762197 rs74762197 1 1538 10 1/0 0,255,255 +. 4 190946866 G A - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution synonymous exon GRCh37 190946866 190946866 Chr4(GRCh37):g.190946866G>A 690 690 NM_001286820.1:c.690C>T p.Thr230= p.Thr230Thr 4 609032 356 3' 96.6549 X.77 0.98837 XI.08 96.6549 X.77 0.98837 XI.08 0 COSM4005737 Urinary tract 0.001488 672 transition C T C>T 0.012 0.367 T Thr ACC 0.361 T Thr ACT 0.243 230 177 PASS . . . . . . . . . . . . . . . . 0.10752688 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . -0.3362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000205097 LOC100288255 FRG2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . ID\x3dCOSM4005737\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +. 4 190947917 G C - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution missense exon GRCh37 190947917 190947917 Chr4(GRCh37):g.190947917G>C 185 185 NM_001286820.1:c.185C>G p.Ser62Trp p.Ser62Trp 2 609032 7 3' 85.7153 8.29438 0.563165 3.55862 85.7153 8.29438 0.707444 3.00191 0.0853977 COSM4592305|COSM4592305|COSM4592305|COSM4592305 Upper aerodigestive tract|Thyroid|Liver|Breast 0.004019|0.001339|0.001687|0.000410 1244|747|2371|2442 transversion C G C>G 0.004 -1.086 S Ser TCG 0.056 W Trp TGG 1.000 62 11 10 Cow -4 -3 -6 I.42 0.13 9.II 5.IV 32 170 177 C15 120.53 81.49 Deleterious 0 II.95 177 PASS . . . . . . . . . . . . . . . . 0.11792453 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.380 . @ . . . . . 1 0.260 . . 424.0 . . . . . . . . . . -0.8611 -1.143 -0.861 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000205097 LOC100288255 FRG2 . . . 0.837 0.248 . . . . . . . Uncertain_significance . 0 . 0.076 . . . . T 0.126 0.005 . . 37 . 0.622 . . 0.508 . . . 0.263 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.793 . . 0 0 0 0 0 0 . 0.764 . . 0.671 . . . . . . 0 0.784 . . . . . . . 0.276 . LowAF 0 . . . . . . . . . . . . . . . . 0.352 -0.703 . 0.000000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.120 -1.120000 . . 0.000000 . . 1.0E-177 0.332 0.254 . 0.062 0.252 . 0.024 . 0.007 -1.120 0.150 . . . . . 1 1538 10 1/0 0,166,255 +. 4 190947989 A T - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution intron GRCh37 190947989 190947989 Chr4(GRCh37):g.190947989A>T 179-66 179-66 NM_001286820.1:c.179-66T>A p.? p.? 2 1 609032 -66 3' 85.7153 8.29438 0.563165 3.55862 85.7153 8.29438 0.563165 3.42293 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 2 0 0 0 0 8 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4353 Genomes transversion T A T>A 0.012 -1.247 250 PASS . . . . . . . . . . . . . . . . 0.3037249 . . @ 106 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 349.0 . . . . . . . . . . -0.5773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000205097 LOC100288255 FRG2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,192,255 +. 4 190947990 T C - FRG2 19136 FSHD region gene 2 NM_001286820.1 -1 2087 840 NP_001273749.1 substitution intron GRCh37 190947990 190947990 Chr4(GRCh37):g.190947990T>C 179-67 179-67 NM_001286820.1:c.179-67A>G p.? p.? 2 1 609032 -67 3' 85.7153 8.29438 0.563165 3.55862 85.7153 8.29438 0.563165 3.65945 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 2 0 0 0 0 6 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 5214 Genomes transition A G A>G 0.016 0.367 248 PASS . . . . . . . . . . . . . . . . 0.29885057 . . @ 104 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 348.0 . . . . . . . . . . -0.1868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000205097 LOC100288255 FRG2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 0 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,191,255 +. (chr4:190981481 CT/C) 4 190981481 CT C Not on a known gene +. 4 190986568 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986568 190986568 Chr4(GRCh37):g.190986568C>T 912 912 NR_121644.1:n.912C>T 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1182 122 92 8 138 0 372 406 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 141 Genomes transition C T C>T 0.669 1.174 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L304|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.3995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38156\x3bdist\x3d2425 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190986572 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986572 190986572 Chr4(GRCh37):g.190986572G>C 916 916 NR_121644.1:n.916G>C 1 614865 transversion G C G>C 0.677 -0.037 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G306R|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.4628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38160\x3bdist\x3d2421 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190986578 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986578 190986578 Chr4(GRCh37):g.190986578C>T 922 922 NR_121644.1:n.922C>T 1 614865 transition C T C>T 0.583 1.174 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R308C|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.4543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38166\x3bdist\x3d2415 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190986584 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986584 190986584 Chr4(GRCh37):g.190986584C>T 928 928 NR_121644.1:n.928C>T 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 924 106 72 2 134 0 268 312 30 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 191 Genomes transition C T C>T 0.567 0.205 216 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R310W|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.3358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38172\x3bdist\x3d2409 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190986585 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190986585 190986585 Chr4(GRCh37):g.190986585G>A 929 929 NR_121644.1:n.929G>A 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1880 304 126 4 220 0 552 614 60 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 98 Genomes transition G A G>A 0.575 1.174 216 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R310Q|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.3683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38173\x3bdist\x3d2408 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs868938241 4 190987150 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190987150 190987150 Chr4(GRCh37):g.190987150C>T 1494 1494 NR_121644.1:n.1494C>T 1 614865 rs868938241 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.969 1.013 255 PASS . . . . . . . . . . . . . . . . 0.93333334 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y498|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.2750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38738\x3bdist\x3d1843 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190987159 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190987159 190987159 Chr4(GRCh37):g.190987159G>A 1503 1503 NR_121644.1:n.1503G>A 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.937 -0.037 247 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A501|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.3791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38747\x3bdist\x3d1834 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190987165 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190987165 190987165 Chr4(GRCh37):g.190987165C>T 1509 1509 NR_121644.1:n.1509C>T 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.921 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.75 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L503|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.7870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38753\x3bdist\x3d1828 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs868995168 4 190987167 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190987167 190987167 Chr4(GRCh37):g.190987167G>C 1511 1511 NR_121644.1:n.1511G>C 1 614865 rs868995168 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.921 -0.279 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 11.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R504P|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.4232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000258475 . DBET . dist\x3d38755\x3bdist\x3d1826 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs368576325 4 190988913 G T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190988913 190988913 Chr4(GRCh37):g.190988913G>T 3257 3257 NR_121644.1:n.3257G>T 1 614865 rs368576325 no no 0 0.000000 0 transversion G T G>T 0.969 1.416 229 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 20.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gTg|G1086V|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . V.82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs368576325 rs368576325 1 1538 10 1/0 0,255,255 +. 4 190988933 T C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190988933 190988933 Chr4(GRCh37):g.190988933T>C 3277 3277 NR_121644.1:n.3277T>C 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1772 276 108 24 28 0 1028 246 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 190 Genomes transition T C T>C 0.772 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 21.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W1093R|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . V.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190988949 CGGCT C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 deletion exon GRCh37 190988967 190988970 Chr4(GRCh37):g.190988967_190988970del 3311 3314 NR_121644.1:n.3311_3314del 1 614865 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000400 0.000000 0.000400 2 0 0 0 0 0 1 1 0 53042 1298 13168 4330 2418 9864 17742 2498 1724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 43 Exomes GCTG 255 Pass . . . . . . . . . . . . . . . . 0.5 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 22 . . FRAME_SHIFT(HIGH||||DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . . . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.771e-05 0 0 0 0.0004 5.636e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,30 +. 4 190988958 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190988958 190988958 Chr4(GRCh37):g.190988958G>C 3302 3302 NR_121644.1:n.3302G>C 1 614865 transversion G C G>C 0.961 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 22.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tCg|W1101S|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . IV.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190989000 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution exon GRCh37 190989000 190989000 Chr4(GRCh37):g.190989000G>A 3344 3344 NR_121644.1:n.3344G>A 1 614865 0.004345 0.006024 0.015873 0.000000 0.000000 0.000000 0.001153 0.017241 0.000000 0.017241 13 3 2 0 0 0 2 6 0 2992 498 126 54 116 0 1734 348 116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 3 2 0 0 0 2 6 0 0 0 0 0 0 0 0 0 0 RF 226 Genomes transition G A G>A 1.000 1.739 183 PASS . . . . . . . . . . . . . . . . 0.2195122 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1115H|DBET|Non-coding_transcript|NON_CODING|NR_121644|NR_121644.ex.1) . . . . . . . -0.1587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . 0.59 0.29 182 ENSG00000250537 DUX2 DBET . uc031sid.1:c.-90G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0043 0.0159 0 0 0.0172 0.0012 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs36182626 rs36182626 1 1538 10 1/0 0,255,255 +. 4 190989037 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989037 190989037 Chr4(GRCh37):g.190989037C>T *18 *18 NR_121644.1:n.*18C>T p.? p.? 1 614865 0.008254 0.008886 0.016949 0.000000 0.047619 0.000000 0.002304 0.017562 0.012500 0.047619 57 15 4 0 10 0 8 17 3 6906 1688 236 92 210 0 3472 968 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 15 4 0 10 0 8 17 3 0 0 0 0 0 0 0 0 0 RF 111 Genomes transition C T C>T 0.913 -0.521 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 49.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 downstream . . . @ . . . 0.6 0.32 182 ENSG00000250537 DUX2 DBET . uc031sid.1:c.-53C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0089 0.0083 0.0169 0 0.0476 0.0176 0.0023 0.0125 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . rs74188811 rs74188811 1 1538 10 1/0 0,255,255 +. 4 190989227 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989227 190989227 Chr4(GRCh37):g.190989227C>T *208 *208 NR_121644.1:n.*208C>T p.? p.? 1 614865 0.000106 0.000126 0.000000 0.000838 0.000000 0.000000 0.000144 0.000000 0.000573 0.000838 6 1 0 1 0 0 3 0 1 56578 7938 10258 1194 7210 5308 20786 2140 1744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 1 0 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 1.577 180 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C138T:p.I46I . . . 0.14478114 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 297.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.5028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.6e-05 0 0 0 0 0.0001 0.0007 0 0.0003 0.0003 0 0.0417 0 0 0.0002 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs377342046 4 190989265 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989265 190989265 Chr4(GRCh37):g.190989265C>T *246 *246 NR_121644.1:n.*246C>T p.? p.? 1 614865 rs377342046 no no 0 0.000000 0 0.000548 0.002891 0.000000 0.000000 0.000000 0.000208 0.000419 0.001362 0.000000 0.002891 25 15 0 0 0 1 7 2 0 45634 5188 9002 888 6150 4802 16710 1468 1426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 15 0 0 0 1 7 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 1.577 187 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C176T:p.P59L . . . 0.12666667 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 300.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.318e-05 0 0 0 0.0016 6.719e-05 0 0.0002 0.0120 0.0047 0 0 0 0.0012 0.0033 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs377342046 rs377342046 1 1538 10 1/0 0,181,255 +. 4 190989285 T C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989285 190989285 Chr4(GRCh37):g.190989285T>C *266 *266 NR_121644.1:n.*266T>C p.? p.? 1 614865 0.001039 0.001562 0.000000 0.000000 0.000000 0.000000 0.000296 0.003086 0.000000 0.003086 9 5 0 0 0 0 1 3 0 8662 3202 178 12 638 0 3376 972 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 5 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 67 Genomes transition T C T>C 0.850 0.851 180 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.T196C:p.W66R . . . 0.1124031 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 258.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0010 0 0 0 0.0031 0.0003 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +rs782352989 4 190989611 T A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989611 190989611 Chr4(GRCh37):g.190989611T>A *592 *592 NR_121644.1:n.*592T>A p.? p.? 1 614865 rs782352989 yes no Frequency 1 0.000000 0 0.000938 0.000463 0.000294 0.016129 0.000000 0.000000 0.001074 0.001860 0.000000 0.016129 35 2 2 8 0 0 17 6 0 37318 4316 6792 496 3110 2302 15826 3226 1250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 2 2 8 0 0 17 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.685 1.093 183 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.T522A:p.A174A . . . 0.11940298 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 67.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4229 . . . . . . . . 1.329e-03 . . . . 0 . . . 0 . 0 . 0 . . 0 0 . 0 . synonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0066 0.0017 0.0003 0.0226 0 0.0041 0.0028 0 0 0 0.0002 0 0 0 0.0015 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs782083283 4 190989871 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190989871 190989871 Chr4(GRCh37):g.190989871C>T *852 *852 NR_121644.1:n.*852C>T p.? p.? 1 614865 rs782083283 yes no Frequency 1 0.000000 0 0.000135 0.000765 0.000000 0.000000 0.000000 0.000000 0.000000 0.001099 0.000000 0.001099 2 1 0 0 0 0 0 1 0 14824 1308 2414 184 942 576 8004 910 486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.213 -0.763 147 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C782T:p.P261L . . . 0.19512194 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.6944 . . . . . . . . 5.629e-04 . . . 0 0 . . . 0 . 0 0 0 . . . 0 . 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic downstream . . . @ . . . . . . ENSG00000250537 DUX2 DBET . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0048 0 0 0 0.0008 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-147 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990198 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990198 190990198 Chr4(GRCh37):g.190990198G>C *1179 *1179 NR_121644.1:n.*1179G>C p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 4 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.016 -1.247 255 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.G1109C:p.C370S . . . 0.64285713 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.6933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1179\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990250 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990250 190990250 Chr4(GRCh37):g.190990250G>A *1231 *1231 NR_121644.1:n.*1231G>A p.? p.? 1 614865 transition G A G>A 0.000 -1.086 240 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.G1161A:p.A387A . . . 0.28125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.6658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1231\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . rs3885277 rs3885277 . . 1 1538 10 1/0 0,255,255 +. 4 190990255 C A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990255 190990255 Chr4(GRCh37):g.190990255C>A *1236 *1236 NR_121644.1:n.*1236C>A p.? p.? 1 614865 transversion C A C>A 0.000 1.013 148 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1166A:p.P389H . . . 0.16129032 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3899 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1236\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990257 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990257 190990257 Chr4(GRCh37):g.190990257C>T *1238 *1238 NR_121644.1:n.*1238C>T p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -1.328 255 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1168T:p.L390F . . . 0.7096774 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.7740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1238\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990277 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990277 190990277 Chr4(GRCh37):g.190990277G>A *1258 *1258 NR_121644.1:n.*1258G>A p.? p.? 1 614865 transition G A G>A 0.008 1.013 214 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.G1188A:p.P396P . . . 0.19444445 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1258\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs797024418 4 190990294 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990294 190990294 Chr4(GRCh37):g.190990294C>T *1275 *1275 NR_121644.1:n.*1275C>T p.? p.? 1 614865 rs797024418 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -2.619 255 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1205T:p.S402L . . . 0.775 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -1.0180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1275\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201393880 4 190990304 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990304 190990304 Chr4(GRCh37):g.190990304C>T *1285 *1285 NR_121644.1:n.*1285C>T p.? p.? 1 614865 rs201393880 no no 0 0.000000 0 transition C T C>T 0.008 -1.328 197 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1215T:p.A405A . . . 0.15384616 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.6764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.59 0.36 182 ENSG00000250537 DUX2 . . . dist\x3d1285\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs201393880 rs201393880 1 1538 10 1/0 0,255,255 +. 4 190990309 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990309 190990309 Chr4(GRCh37):g.190990309C>T *1290 *1290 NR_121644.1:n.*1290C>T p.? p.? 1 614865 transition C T C>T 0.071 0.205 118 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.C1220T:p.S407L . . . 0.11764706 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 51.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1290\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-118 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990310 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990310 190990310 Chr4(GRCh37):g.190990310G>A *1291 *1291 NR_121644.1:n.*1291G>A p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.102 0.125 238 PASS . . . . . . . . . . . . DUX2:uc031sid.1:exon1:c.G1221A:p.S407S . . . 0.36734694 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 49.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1291\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990443 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990443 190990443 Chr4(GRCh37):g.190990443C>T *1424 *1424 NR_121644.1:n.*1424C>T p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.063 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.5822785 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.9477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1424\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990451 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990451 190990451 Chr4(GRCh37):g.190990451C>T *1432 *1432 NR_121644.1:n.*1432C>T p.? p.? 1 614865 transition C T C>T 0.079 1.416 187 PASS . . . . . . . . . . . . . . . . 0.12857144 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.3880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1432\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs36181331 rs36181331 . . 1 1538 10 1/0 0,244,255 +. 4 190990452 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990452 190990452 Chr4(GRCh37):g.190990452G>A *1433 *1433 NR_121644.1:n.*1433G>A p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 2 0 0 0 0 0 16 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 2047 Genomes transition G A G>A 0.063 -0.440 148 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1433\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . 0 . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 4 190990458 C T - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990458 190990458 Chr4(GRCh37):g.190990458C>T *1439 *1439 NR_121644.1:n.*1439C>T p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.118 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.5675676 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.7926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1439\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs374845197 4 190990460 G C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990460 190990460 Chr4(GRCh37):g.190990460G>C *1441 *1441 NR_121644.1:n.*1441G>C p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.024 -2.458 255 PASS . . . . . . . . . . . . . . . . 0.5135135 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.8818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1441\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 190990463 C A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990463 190990463 Chr4(GRCh37):g.190990463C>A *1444 *1444 NR_121644.1:n.*1444C>A p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 4 0 0 0 0 0 12 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 2146 Genomes transversion C A C>A 0.024 -2.539 191 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.9001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1444\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs36168737 rs36168737 . . 1 1538 10 1/0 0,244,255 +rs113562226 4 190990506 T C - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990506 190990506 Chr4(GRCh37):g.190990506T>C *1487 *1487 NR_121644.1:n.*1487T>C p.? p.? 1 614865 rs113562226 no no 0 0.000000 0 transition T C T>C 0.811 0.770 126 PASS . . . . . . . . . . . . . . . . 0.13513513 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1487\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-126 . . . . . . . . . . . . rs36189595 rs36189595 . . 1 1538 10 1/0 0,246,255 +. 4 190990527 A G - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990527 190990527 Chr4(GRCh37):g.190990527A>G *1508 *1508 NR_121644.1:n.*1508A>G p.? p.? 1 614865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.961 1.174 208 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 66.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . 0.57 0.4 182 ENSG00000250537 DUX2 . . . dist\x3d1508\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs375138177 4 190990536 C A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990536 190990536 Chr4(GRCh37):g.190990536C>A *1517 *1517 NR_121644.1:n.*1517C>A p.? p.? 1 614865 rs375138177 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.976 -2.216 250 PASS . . . . . . . . . . . . . . . . 0.3090909 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.9737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1517\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . rs3927383 rs3927383 rs375138177 rs375138177 1 1538 10 1/0 0,255,255 +. 4 190990608 G A - DBET 43904 D4Z4 binding element transcript (non-protein coding) NR_121644.1 1 3363 0 substitution downstream GRCh37 190990608 190990608 Chr4(GRCh37):g.190990608G>A *1589 *1589 NR_121644.1:n.*1589G>A p.? p.? 1 614865 transition G A G>A 0.728 1.013 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . DOWNSTREAM(MODIFIER||||DBET|Non-coding_transcript|NON_CODING|NR_121644|) . . . . . . . -0.4774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000250537 DUX2 . . . dist\x3d1589\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs36145665 rs36145665 . . 1 1538 10 1/0 0,255,255 +. (chr4:190992196 C/T) 4 190992196 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992209 G/A) 4 190992209 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992210 G/T) 4 190992210 G T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992230 T/C) 4 190992230 T C No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992234 C/G) 4 190992234 C G No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992240 C/T) 4 190992240 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992242 A/G) 4 190992242 A G No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992244 G/A) 4 190992244 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992246 CGGCTGGCT/C) 4 190992246 CGGCTGGCT C No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992255 G/C) 4 190992255 G C No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992271 G/A) 4 190992271 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992296 C/T) 4 190992296 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992297 G/A) 4 190992297 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992308 T/G) 4 190992308 T G No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992311 G/A) 4 190992311 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992323 C/T) 4 190992323 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992334 C/T) 4 190992334 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992349 C/T) 4 190992349 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992350 G/A) 4 190992350 G A No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992351 C/T) 4 190992351 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992359 C/T) 4 190992359 C T No Alamut gene - other known genes: DUX4L8 DUX4L8 +. (chr4:190992369 C/T) 4 190992369 C T Not on a known gene +. (chr4:190992370 G/A) 4 190992370 G A Not on a known gene +. (chr4:190992373 C/T) 4 190992373 C T Not on a known gene +. (chr4:190992374 G/A) 4 190992374 G A Not on a known gene +rs371361094 (chr4:190992381 A/C) 4 190992381 A C Not on a known gene +. (chr4:190992383 C/T) 4 190992383 C T Not on a known gene +. (chr4:190992397 C/T) 4 190992397 C T Not on a known gene +. (chr4:190992411 A/G) 4 190992411 A G Not on a known gene +. (chr4:190992422 C/T) 4 190992422 C T Not on a known gene +. (chr4:190992424 C/T) 4 190992424 C T Not on a known gene +. (chr4:190992425 G/A) 4 190992425 G A Not on a known gene +rs879980865 (chr4:190992433 G/A) 4 190992433 G A Not on a known gene +. (chr4:190992440 A/G) 4 190992440 A G Not on a known gene +. (chr4:190992444 C/T) 4 190992444 C T Not on a known gene +. (chr4:190992447 C/T) 4 190992447 C T Not on a known gene +. (chr4:190992450 C/A) 4 190992450 C A Not on a known gene +. (chr4:190992469 C/T) 4 190992469 C T Not on a known gene +. (chr4:190992479 C/T) 4 190992479 C T Not on a known gene +. (chr4:190992489 C/T) 4 190992489 C T Not on a known gene +. (chr4:190992504 C/T) 4 190992504 C T Not on a known gene +. (chr4:190992505 G/A) 4 190992505 G A Not on a known gene +. (chr4:190992510 C/A) 4 190992510 C A Not on a known gene +. (chr4:190992512 G/A) 4 190992512 G A Not on a known gene +. (chr4:190992524 C/T) 4 190992524 C T Not on a known gene +. (chr4:190992525 G/A) 4 190992525 G A Not on a known gene +. (chr4:190992537 C/T) 4 190992537 C T Not on a known gene +. (chr4:190992562 C/T) 4 190992562 C T Not on a known gene +. (chr4:190992563 G/A) 4 190992563 G A Not on a known gene +. (chr4:190992582 T/C) 4 190992582 T C Not on a known gene +. (chr4:190992603 C/T) 4 190992603 C T Not on a known gene +. (chr4:190992604 G/A) 4 190992604 G A Not on a known gene +. (chr4:190992622 G/A) 4 190992622 G A Not on a known gene +. (chr4:190992659 G/A) 4 190992659 G A Not on a known gene +. (chr4:190992661 C/A) 4 190992661 C A Not on a known gene +. (chr4:190992669 C/A) 4 190992669 C A Not on a known gene +. (chr4:190992844 G/C) 4 190992844 G C Not on a known gene +. (chr4:190992869 C/T) 4 190992869 C T Not on a known gene +. (chr4:190992897 G/T) 4 190992897 G T Not on a known gene +. (chr4:190992927 G/A) 4 190992927 G A Not on a known gene +. (chr4:190992940 C/T) 4 190992940 C T Not on a known gene +. (chr4:190992979 C/T) 4 190992979 C T Not on a known gene +. (chr4:190993018 C/G) 4 190993018 C G Not on a known gene +. (chr4:190993130 C/A) 4 190993130 C A Not on a known gene +. (chr4:190993174 C/T) 4 190993174 C T Not on a known gene +. (chr4:190993175 G/A) 4 190993175 G A Not on a known gene +. (chr4:190993477 C/G) 4 190993477 C G Not on a known gene +. (chr4:190993480 G/C) 4 190993480 G C Not on a known gene +. (chr4:190993495 G/C) 4 190993495 G C Not on a known gene +. (chr4:190993529 G/A) 4 190993529 G A Not on a known gene +. (chr4:190993546 C/T) 4 190993546 C T Not on a known gene +. (chr4:190993547 G/A) 4 190993547 G A Not on a known gene +. (chr4:190993554 C/T) 4 190993554 C T Not on a known gene +. (chr4:190993573 C/T) 4 190993573 C T Not on a known gene +. (chr4:190993574 G/A) 4 190993574 G A Not on a known gene +. (chr4:190993591 C/T) 4 190993591 C T Not on a known gene +. (chr4:190993601 C/T) 4 190993601 C T Not on a known gene +. (chr4:190993602 G/A) 4 190993602 G A Not on a known gene +. (chr4:190993638 C/T) 4 190993638 C T Not on a known gene +. (chr4:190993740 C/T) 4 190993740 C T Not on a known gene +. (chr4:190993755 C/T) 4 190993755 C T Not on a known gene +. (chr4:190993757 G/C) 4 190993757 G C Not on a known gene +. (chr4:190993905 G/A) 4 190993905 G A Not on a known gene +. (chr4:190995483 G/T) 4 190995483 G T Not on a known gene +. (chr4:190995490 G/A) 4 190995490 G A Not on a known gene +. (chr4:190995523 T/C) 4 190995523 T C Not on a known gene +. (chr4:190995533 C/T) 4 190995533 C T Not on a known gene +. (chr4:190995537 G/A) 4 190995537 G A Not on a known gene +. (chr4:190995539 CGGCTGGCT/C) 4 190995539 CGGCTGGCT C Not on a known gene +. (chr4:190995548 G/C) 4 190995548 G C Not on a known gene +rs62347468 (chr4:190995573 T/C) 4 190995573 T C Not on a known gene +. (chr4:190995590 G/A) 4 190995590 G A Not on a known gene +. (chr4:190995601 T/G) 4 190995601 T G Not on a known gene +. (chr4:190995625 G/A) 4 190995625 G A Not on a known gene +. (chr4:190995643 G/A) 4 190995643 G A Not on a known gene +. (chr4:190995644 C/T) 4 190995644 C T Not on a known gene +. (chr4:190995662 C/T) 4 190995662 C T Not on a known gene +. (chr4:190995667 G/A) 4 190995667 G A Not on a known gene +. (chr4:190995710 C/T) 4 190995710 C T Not on a known gene +. (chr4:190995733 A/G) 4 190995733 A G Not on a known gene +. (chr4:190995737 C/T) 4 190995737 C T Not on a known gene +. (chr4:190995740 C/T) 4 190995740 C T Not on a known gene +. (chr4:190995743 C/A) 4 190995743 C A Not on a known gene +. (chr4:190995762 C/T) 4 190995762 C T Not on a known gene +. (chr4:190995772 C/T) 4 190995772 C T Not on a known gene +. (chr4:190995797 C/T) 4 190995797 C T Not on a known gene +. (chr4:190995798 G/A) 4 190995798 G A Not on a known gene +. (chr4:190995805 G/A) 4 190995805 G A Not on a known gene +. (chr4:190995817 C/T) 4 190995817 C T Not on a known gene +. (chr4:190995818 G/A) 4 190995818 G A Not on a known gene +. (chr4:190995830 C/T) 4 190995830 C T Not on a known gene +. (chr4:190995848 G/A) 4 190995848 G A Not on a known gene +. (chr4:190995855 C/T) 4 190995855 C T Not on a known gene +. (chr4:190995856 G/A) 4 190995856 G A Not on a known gene +. (chr4:190995875 T/C) 4 190995875 T C Not on a known gene +. (chr4:190995896 C/T) 4 190995896 C T Not on a known gene +. (chr4:190995915 G/A) 4 190995915 G A Not on a known gene +. (chr4:190995945 G/A) 4 190995945 G A Not on a known gene +. (chr4:190995954 C/A) 4 190995954 C A Not on a known gene +. (chr4:190995962 C/A) 4 190995962 C A Not on a known gene +. (chr4:190995966 G/A) 4 190995966 G A Not on a known gene +. (chr4:190995972 G/A) 4 190995972 G A Not on a known gene +. (chr4:190996137 G/C) 4 190996137 G C Not on a known gene +. (chr4:190996141 C/A) 4 190996141 C A Not on a known gene +. (chr4:190996162 C/T) 4 190996162 C T Not on a known gene +. (chr4:190996167 T/C) 4 190996167 T C Not on a known gene +. (chr4:190996168 G/A) 4 190996168 G A Not on a known gene +. (chr4:190996190 G/T) 4 190996190 G T Not on a known gene +. (chr4:190996244 G/T) 4 190996244 G T Not on a known gene +. (chr4:190996246 G/T) 4 190996246 G T Not on a known gene +. (chr4:190996253 G/A) 4 190996253 G A Not on a known gene +. (chr4:190996269 G/A) 4 190996269 G A Not on a known gene +. (chr4:190996272 C/T) 4 190996272 C T Not on a known gene +. (chr4:190996423 C/A) 4 190996423 C A Not on a known gene +. (chr4:190996839 C/T) 4 190996839 C T Not on a known gene +. (chr4:190996840 G/A) 4 190996840 G A Not on a known gene +. (chr4:190996847 C/T) 4 190996847 C T Not on a known gene +. (chr4:190996867 G/A) 4 190996867 G A Not on a known gene +. (chr4:190996884 C/T) 4 190996884 C T Not on a known gene +. (chr4:190996900 G/A) 4 190996900 G A Not on a known gene +. (chr4:190996940 C/A) 4 190996940 C A Not on a known gene +. (chr4:190997033 C/T) 4 190997033 C T Not on a known gene +. (chr4:190997048 C/T) 4 190997048 C T Not on a known gene +. (chr4:190997050 G/C) 4 190997050 G C Not on a known gene +. (chr4:190998816 T/C) 4 190998816 T C Not on a known gene +. (chr4:190998820 C/G) 4 190998820 C G Not on a known gene +. (chr4:190998826 C/T) 4 190998826 C T Not on a known gene +. (chr4:190998830 G/A) 4 190998830 G A Not on a known gene +. (chr4:190998832 CGGCTGGCT/C) 4 190998832 CGGCTGGCT C Not on a known gene +. (chr4:190998841 G/C) 4 190998841 G C Not on a known gene +. (chr4:190998853 G/T) 4 190998853 G T Not on a known gene +. (chr4:190998857 G/A) 4 190998857 G A Not on a known gene +. (chr4:190998873 T/A) 4 190998873 T A Not on a known gene +. (chr4:190998894 T/G) 4 190998894 T G Not on a known gene +. (chr4:190998937 C/T) 4 190998937 C T Not on a known gene +. (chr4:190998967 A/C) 4 190998967 A C Not on a known gene +. (chr4:190999003 C/T) 4 190999003 C T Not on a known gene +. (chr4:190999019 G/A) 4 190999019 G A Not on a known gene +. (chr4:190999026 A/G) 4 190999026 A G Not on a known gene +. (chr4:190999031 G/A) 4 190999031 G A Not on a known gene +. (chr4:190999036 C/A) 4 190999036 C A Not on a known gene +. (chr4:190999055 C/T) 4 190999055 C T Not on a known gene +. (chr4:190999075 C/T) 4 190999075 C T Not on a known gene +. (chr4:190999091 G/A) 4 190999091 G A Not on a known gene +. (chr4:190999098 G/A) 4 190999098 G A Not on a known gene +. (chr4:190999103 C/T) 4 190999103 C T Not on a known gene +. (chr4:190999110 C/T) 4 190999110 C T Not on a known gene +. (chr4:190999111 G/A) 4 190999111 G A Not on a known gene +. (chr4:190999123 C/T) 4 190999123 C T Not on a known gene +. (chr4:190999140 C/T) 4 190999140 C T Not on a known gene +. (chr4:190999149 G/A) 4 190999149 G A Not on a known gene +. (chr4:190999189 C/T) 4 190999189 C T Not on a known gene +. (chr4:190999190 G/A) 4 190999190 G A Not on a known gene +. (chr4:190999208 G/A) 4 190999208 G A Not on a known gene +. (chr4:190999211 G/A) 4 190999211 G A Not on a known gene +. (chr4:190999238 G/A) 4 190999238 G A Not on a known gene +. (chr4:190999247 C/A) 4 190999247 C A Not on a known gene +. (chr4:190999255 C/A) 4 190999255 C A Not on a known gene +. (chr4:190999430 G/C) 4 190999430 G C Not on a known gene +. (chr4:190999443 C/T) 4 190999443 C T Not on a known gene +. (chr4:190999446 G/A) 4 190999446 G A Not on a known gene +. (chr4:190999455 C/T) 4 190999455 C T Not on a known gene +. (chr4:190999460 T/C) 4 190999460 T C Not on a known gene +. (chr4:190999461 G/A) 4 190999461 G A Not on a known gene +. (chr4:190999469 C/T) 4 190999469 C T Not on a known gene +. (chr4:190999483 G/T) 4 190999483 G T Not on a known gene +. (chr4:190999546 G/A) 4 190999546 G A Not on a known gene +. (chr4:190999566 G/A) 4 190999566 G A Not on a known gene +. (chr4:190999604 C/G) 4 190999604 C G Not on a known gene +. (chr4:190999716 C/A) 4 190999716 C A Not on a known gene +. (chr4:190999761 G/A) 4 190999761 G A Not on a known gene +. (chr4:191000081 G/C) 4 191000081 G C Not on a known gene +. (chr4:191000115 G/A) 4 191000115 G A Not on a known gene +. (chr4:191000132 C/T) 4 191000132 C T Not on a known gene +. (chr4:191000140 C/T) 4 191000140 C T Not on a known gene +. (chr4:191000177 C/T) 4 191000177 C T Not on a known gene +. (chr4:191000188 G/A) 4 191000188 G A Not on a known gene +. (chr4:191000193 G/A) 4 191000193 G A Not on a known gene +. (chr4:191000206 C/A) 4 191000206 C A Not on a known gene +. (chr4:191000212 G/T) 4 191000212 G T Not on a known gene +. (chr4:191000224 C/T) 4 191000224 C T Not on a known gene +. (chr4:191000326 C/T) 4 191000326 C T Not on a known gene +. (chr4:191000335 G/A) 4 191000335 G A Not on a known gene +. (chr4:191000341 C/T) 4 191000341 C T Not on a known gene +. (chr4:191000343 G/C) 4 191000343 G C Not on a known gene +. (chr4:191000345 C/A) 4 191000345 C A Not on a known gene +. (chr4:191002096 G/T) 4 191002096 G T Not on a known gene +. (chr4:191002116 T/C) 4 191002116 T C Not on a known gene +. (chr4:191002126 C/T) 4 191002126 C T Not on a known gene +. (chr4:191002130 G/A) 4 191002130 G A Not on a known gene +. (chr4:191002132 CGGCTGGCT/C) 4 191002132 CGGCTGGCT C Not on a known gene +. (chr4:191002141 G/C) 4 191002141 G C Not on a known gene +. (chr4:191002157 G/A) 4 191002157 G A Not on a known gene +. (chr4:191002182 C/T) 4 191002182 C T Not on a known gene +. (chr4:191002183 G/A) 4 191002183 G A Not on a known gene +. (chr4:191002209 C/T) 4 191002209 C T Not on a known gene +. (chr4:191002218 G/A) 4 191002218 G A Not on a known gene +rs797024396 (chr4:191002235 C/T) 4 191002235 C T Not on a known gene +. (chr4:191002236 G/A) 4 191002236 G A Not on a known gene +. (chr4:191002241 C/T) 4 191002241 C T Not on a known gene +. (chr4:191002245 C/T) 4 191002245 C T Not on a known gene +. (chr4:191002246 G/A) 4 191002246 G A Not on a known gene +rs797043651 (chr4:191002255 C/T) 4 191002255 C T Not on a known gene +. (chr4:191002256 G/A) 4 191002256 G A Not on a known gene +. (chr4:191002259 C/T) 4 191002259 C T Not on a known gene +. (chr4:191002286 C/A) 4 191002286 C A Not on a known gene +. (chr4:191002293 G/A) 4 191002293 G A Not on a known gene +. (chr4:191002310 C/T) 4 191002310 C T Not on a known gene +. (chr4:191002331 G/A) 4 191002331 G A Not on a known gene +rs74220307 (chr4:191002365 C/T) 4 191002365 C T Not on a known gene +. (chr4:191002390 C/T) 4 191002390 C T Not on a known gene +. (chr4:191002391 G/A) 4 191002391 G A Not on a known gene +. (chr4:191002404 G/A) 4 191002404 G A Not on a known gene +. (chr4:191002410 C/T) 4 191002410 C T Not on a known gene +. (chr4:191002411 G/A) 4 191002411 G A Not on a known gene +. (chr4:191002423 C/T) 4 191002423 C T Not on a known gene +. (chr4:191002441 G/A) 4 191002441 G A Not on a known gene +rs199875395 (chr4:191002448 C/T) 4 191002448 C T Not on a known gene +. (chr4:191002449 G/A) 4 191002449 G A Not on a known gene +. (chr4:191002468 T/C) 4 191002468 T C Not on a known gene +rs201176248 (chr4:191002489 C/T) 4 191002489 C T Not on a known gene +. (chr4:191002490 G/A) 4 191002490 G A Not on a known gene +. (chr4:191002508 G/A) 4 191002508 G A Not on a known gene +. (chr4:191002511 G/A) 4 191002511 G A Not on a known gene +. (chr4:191002538 G/A) 4 191002538 G A Not on a known gene +rs782579926 (chr4:191002547 C/A) 4 191002547 C A Not on a known gene +rs79630813 (chr4:191002555 C/A) 4 191002555 C A Not on a known gene +. (chr4:191002730 G/C) 4 191002730 G C Not on a known gene +. (chr4:191002783 G/T) 4 191002783 G T Not on a known gene +. (chr4:191002813 G/A) 4 191002813 G A Not on a known gene +. (chr4:191002837 G/T) 4 191002837 G T Not on a known gene +. (chr4:191002839 G/T) 4 191002839 G T Not on a known gene +. (chr4:191002845 C/T) 4 191002845 C T Not on a known gene +rs797033590 (chr4:191002846 G/A) 4 191002846 G A Not on a known gene +. (chr4:191002862 G/A) 4 191002862 G A Not on a known gene +. (chr4:191003019 G/A) 4 191003019 G A Not on a known gene +. (chr4:191003026 T/C) 4 191003026 T C Not on a known gene +. (chr4:191003028 C/T) 4 191003028 C T Not on a known gene +. (chr4:191003038 G/C) 4 191003038 G C Not on a known gene +rs782536991 (chr4:191003054 C/T) 4 191003054 C T Not on a known gene +rs781796365 4 191003408 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003408 191003408 Chr4(GRCh37):g.191003408C>T -1976 -1976 NM_033178.2:c.-1976C>T p.? p.? 1 606009 rs781796365 yes no Frequency 1 0.000000 0 0.000450 0.002503 0.000391 0.000000 0.000000 0.000707 0.000237 0.001383 0.000000 0.002503 20 5 3 0 0 4 4 4 0 44412 1998 7680 1598 6388 5656 16890 2892 1310 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 5 3 0 0 4 4 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.700 135 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.C1319T:p.P440L . . . 0.16666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.7334 . . . . . . . . 1.619e-04 . . . 0 0.0021 0 0 . 0 0 0.0028 0 0.0021 0 0 . 0 0 0.0028 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14389\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.09 . . . . . . . . . . . . . II.61 . . . . . 0.070000 . . . . . . . . . . 0 0.0002 0.0003 0 0 0.0009 8.249e-05 0 0.0007 0.0030 0.0012 0.0026 0 0 0.0017 0.0006 0 . . . . -2.833 -2.833000 . . 0.070000 . . 1.0E-135 . . . . . . . . . -2.833 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191003449 G T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003449 191003449 Chr4(GRCh37):g.191003449G>T -1935 -1935 NM_033178.2:c.-1935G>T p.? p.? 1 606009 transversion G T G>T 0.000 -0.924 140 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1360T:p.A454S . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14430\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.35 . . . . . . . . . . . . . 2.1625 . . . . . 0.180000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.951 -0.951000 . . 0.180000 . . 1.0E-140 . . . . . . . . . -0.951 . . . . . . 1 1538 10 1/0 0,255,255 +rs797029070 4 191003454 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003454 191003454 Chr4(GRCh37):g.191003454G>C -1930 -1930 NM_033178.2:c.-1930G>C p.? p.? 1 606009 transversion G C G>C 0.000 -1.893 128 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1365C:p.P455P . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14435\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-128 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs797042810 4 191003481 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003481 191003481 Chr4(GRCh37):g.191003481C>T -1903 -1903 NM_033178.2:c.-1903C>T p.? p.? 1 606009 0.000773 0.009834 0.000324 0.000000 0.000000 0.000281 0.000174 0.003411 0.001094 0.009834 24 13 2 0 0 1 2 5 1 31058 1322 6174 664 5448 3562 11508 1466 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 10 2 0 0 1 1 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.370 -1.974 196 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.C1392T:p.A464A . . . 0.14925373 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 67.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14462\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.96e-05 0 0 0 0 0 0 0.0003 0.0130 0.0040 0.0090 0 0 0.0049 0.0007 0.0054 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 4 191003487 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003487 191003487 Chr4(GRCh37):g.191003487G>A -1897 -1897 NM_033178.2:c.-1897G>A p.? p.? 1 606009 0.000782 0.006192 0.000000 0.001479 0.000000 0.000000 0.000132 0.000000 0.000779 0.006192 32 28 0 1 0 0 2 0 1 40934 4522 6504 676 6184 3532 15198 3034 1284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 28 0 1 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.787 0.932 126 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1398A:p.S466S . . . 0.17460318 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14468\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.969e-05 0 0.0017 0 0 0 0 0 0.0067 0.0020 0 0 0 0 0.0003 0.0018 . . . . . . . . . . . 1.0E-126 . . . . . . . . . . . . . . . . 1 1538 18 1/0 0,255,255 +. 4 191003506 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003506 191003506 Chr4(GRCh37):g.191003506G>A -1878 -1878 NM_033178.2:c.-1878G>A p.? p.? 1 606009 0.000180 0.000217 0.000000 0.000000 0.000000 0.000000 0.000000 0.000716 0.000000 0.000716 3 1 0 0 0 0 0 2 0 16652 4614 512 100 1074 0 6980 2792 580 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition G A G>A 0.669 1.174 156 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1417A:p.E473K . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14487\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.05 . . . . . . . . . . . . . VI.83 . . . . . 0.010000 . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0 0 0 0.0007 0 0 . . . . 0.398 0.398000 . . 0.010000 . . 1.0E-156 . . . . . . . . . 0.398 . . . . . . 1 1538 10 1/0 0,244,255 +. 4 191003512 G T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003512 191003512 Chr4(GRCh37):g.191003512G>T -1872 -1872 NM_033178.2:c.-1872G>T p.? p.? 1 606009 0.000047 0.000000 0.000000 0.000000 0.000000 0.000000 0.000116 0.000000 0.000000 0.000116 1 0 0 0 0 0 1 0 0 21338 6744 682 108 1244 0 8600 3268 692 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion G T G>T 0.213 0.125 188 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1423T:p.E475X . . . 0.13235295 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14493\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.02 . . . . . . . . . . . . . II.18 . . . . . 0.010000 . . . . . . . . . . . . . . . . . . . 0 4.686e-05 0 0 0 0 0.0001 0 . . . . 0.398 0.398000 . . 0.010000 . . 1.0E-188 . . . . . . . . . 0.398 . . . . . . 1 1538 10 1/0 0,245,255 +. 4 191003519 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003519 191003519 Chr4(GRCh37):g.191003519G>A -1865 -1865 NM_033178.2:c.-1865G>A p.? p.? 1 606009 0.001075 0.003846 0.002591 0.000000 0.000000 0.000000 0.000000 0.000426 0.000000 0.003846 14 12 1 0 0 0 0 1 0 13028 3120 386 84 766 0 5872 2346 454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 12 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition G A G>A 0.024 -0.440 104 PASS . . . . . . . . . . . . DUX4L4:uc021xvr.2:exon1:c.G1430A:p.R477Q . . . 0.13513513 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14500\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.18 . . . . . . . . . . . . . IV.29 . . . . . 0.360000 . . . . . . . . . . . . . . . . . . . 0.0038 0.0011 0.0026 0 0 0.0004 0 0 . . . . -0.561 -0.561000 . . 0.360000 . . 1.0E-104 . . . . . . . . . -0.561 . . . . . . 1 1538 17 1/0 0,249,255 +rs797041664 4 191003629 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003629 191003629 Chr4(GRCh37):g.191003629G>A -1755 -1755 NM_033178.2:c.-1755G>A p.? p.? 1 606009 rs797041664 no no 0 0.000000 0 0.008468 0.036082 0.026316 0.000000 0.000000 0.000000 0.002457 0.013986 0.020408 0.036082 23 7 2 0 0 0 4 8 2 2716 194 76 58 90 0 1628 572 98 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 2 0 0 0 4 8 2 0 0 0 0 0 0 0 0 0 RF 287 Genomes transition G A G>A 0.370 -0.037 159 PASS . . . . . . . . . . . . . . . . 0.15730338 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14610\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0361 0.0085 0.0263 0 0 0.0140 0.0025 0.0204 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs797035197 4 191003637 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003637 191003637 Chr4(GRCh37):g.191003637G>C -1747 -1747 NM_033178.2:c.-1747G>C p.? p.? 1 606009 rs797035197 no no 0 0.000000 0 transversion G C G>C 0.370 -2.377 232 PASS . . . . . . . . . . . . . . . . 0.52873564 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14618\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . . . 1 1538 19 1/0 0,255,255 +. 4 191003683 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003683 191003683 Chr4(GRCh37):g.191003683T>C -1701 -1701 NM_033178.2:c.-1701T>C p.? p.? 1 606009 0.002999 0.000306 0.014451 0.000000 0.000000 0.000000 0.002958 0.012097 0.003472 0.014451 56 2 5 0 0 0 23 24 2 18674 6540 346 84 1368 0 7776 1984 576 0.017857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.041667 0.000000 1 0 0 0 0 0 0 1 0 54 2 5 0 0 0 23 22 2 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition T C T>C 0.913 0.851 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 92.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14664\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0030 0.0145 0 0 0.0121 0.0030 0.0035 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +. 4 191003716 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003716 191003716 Chr4(GRCh37):g.191003716G>A -1668 -1668 NM_033178.2:c.-1668G>A p.? p.? 1 606009 0.008701 0.019417 0.000000 0.000000 0.000000 0.000000 0.005902 0.046875 0.016667 0.046875 15 4 0 0 0 0 7 3 1 1724 206 36 36 136 0 1186 64 60 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 4 0 0 0 0 7 3 1 0 0 0 0 0 0 0 0 0 RF 131 Genomes transition G A G>A 0.646 0.932 180 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14697\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0194 0.0087 0 0 0 0.0469 0.0059 0.0167 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 4 191003745 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003745 191003745 Chr4(GRCh37):g.191003745C>T -1639 -1639 NM_033178.2:c.-1639C>T p.? p.? 1 606009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 576 58 8 6 50 0 410 16 28 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 183 Genomes transition C T C>T 0.047 -0.924 174 PASS . . . . . . . . . . . . . . . . 0.102564104 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14726\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs371772882 4 191003746 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003746 191003746 Chr4(GRCh37):g.191003746G>A -1638 -1638 NM_033178.2:c.-1638G>A p.? p.? 1 606009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 802 100 12 10 92 0 536 26 26 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 129 Genomes transition G A G>A 0.047 0.367 147 PASS . . . . . . . . . . . . . . . . 0.14102565 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intergenic . . . @ . . . 0.53 0.3 182 ENSG00000258834 DUX4L4 . . . dist\x3d14727\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-147 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 4 191003761 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003761 191003761 Chr4(GRCh37):g.191003761G>A -1623 -1623 NM_033178.2:c.-1623G>A p.? p.? 1 606009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 434 50 10 4 34 0 302 20 14 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 196 Genomes transition G A G>A 0.087 1.093 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream intergenic . . . @ . . . 0.51 0.24 182 ENSG00000258834 DUX4L4 . . . dist\x3d14742\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 4 191003778 G T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003778 191003778 Chr4(GRCh37):g.191003778G>T -1606 -1606 NM_033178.2:c.-1606G>T p.? p.? 1 606009 transversion G T G>T 0.189 0.932 179 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14759\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 4 191003784 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003784 191003784 Chr4(GRCh37):g.191003784C>T -1600 -1600 NM_033178.2:c.-1600C>T p.? p.? 1 606009 transition C T C>T 0.039 0.932 133 PASS . . . . . . . . . . . . . . . . 0.116883114 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 77.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14765\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-133 . . . . . . . . . . . . . rs71206220 . . 1 1538 10 1/0 0,241,255 +. 4 191003785 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution upstream GRCh37 191003785 191003785 Chr4(GRCh37):g.191003785G>A -1599 -1599 NM_033178.2:c.-1599G>A p.? p.? 1 606009 transition G A G>A 0.031 0.044 182 PASS . . . . . . . . . . . . . . . . 0.118421055 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 76.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream intergenic . . . @ . . . . . . ENSG00000258834 DUX4L4 . . . dist\x3d14766\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 4 191005410 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005410 191005410 Chr4(GRCh37):g.191005410T>C 27 27 NM_033178.2:c.27T>C p.Cys9= p.Cys9Cys 1 606009 transition T C T>C 0.843 -1.893 C Cys TGT 0.448 C Cys TGC 0.552 9 183 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.T27C:p.C9C . . . . 0.25925925 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3267T>C dist\x3d16391\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005424 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005424 191005424 Chr4(GRCh37):g.191005424G>A 41 41 NM_033178.2:c.41G>A p.Gly14Glu p.Gly14Glu 1 606009 transition G A G>A 0.819 -2.135 G Gly GGG 0.250 E Glu GAG 0.583 14 4 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 237 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G41A:p.G14E . . . . 0.27272728 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 22.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.4959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3253G>A dist\x3d16405\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . 2.1866 . ENST00000556625 . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.068 -2.068000 . . 0.340000 . . 1.0E-237 . . . . . . . . . -2.068 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005435 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005435 191005435 Chr4(GRCh37):g.191005435G>C 52 52 NM_033178.2:c.52G>C p.Gly18Arg p.Gly18Arg 1 606009 transversion G C G>C 0.969 -2.216 G Gly GGC 0.342 R Arg CGC 0.190 18 4 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 210 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G52C:p.G18R . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.4378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3242G>C dist\x3d16416\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . 2.1479 . ENST00000556625 . . . 0.040000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.418 -2.418000 . . 0.040000 . . 1.0E-210 . . . . . . . . . -2.418 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005444 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005444 191005444 Chr4(GRCh37):g.191005444G>C 61 61 NM_033178.2:c.61G>C p.Ala21Pro p.Ala21Pro 1 606009 transversion G C G>C 0.992 0.205 A Ala GCT 0.263 P Pro CCT 0.283 21 4 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 185 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G61C:p.A21P . . . . 0.125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3233G>C dist\x3d16425\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.46 . ENST00000556625 . . . 0.160000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.064 0.064000 . . 0.160000 . . 1.0E-185 . . . . . . . . . 0.064 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005451 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005451 191005451 Chr4(GRCh37):g.191005451G>A 68 68 NM_033178.2:c.68G>A p.Arg23Gln p.Arg23Gln 1 606009 transition G A G>A 0.969 0.205 R Arg CGG 0.207 Q Gln CAG 0.744 23 4 1 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 121 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G68A:p.R23Q . . . . 0.13333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3226G>A dist\x3d16432\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.46 . ENST00000556625 . . . 0.270000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.064 0.064000 . . 0.270000 . . 1.0E-121 . . . . . . . . . 0.064 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005460 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005460 191005460 Chr4(GRCh37):g.191005460T>C 77 77 NM_033178.2:c.77T>C p.Leu26Pro p.Leu26Pro 1 606009 transition T C T>C 0.795 -0.279 L Leu CTC 0.197 P Pro CCC 0.328 26 4 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 178 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.T77C:p.L26P . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8364 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3217T>C dist\x3d16441\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.04 . ENST00000556625 . . . 0.070000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.056 0.056000 . . 0.070000 . . 1.0E-178 . . . . . . . . . 0.056 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005477 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005477 191005477 Chr4(GRCh37):g.191005477G>A 94 94 NM_033178.2:c.94G>A p.Ala32Thr p.Ala32Thr 1 606009 transition G A G>A 1.000 2.304 A Ala GCA 0.226 T Thr ACA 0.280 32 4 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 119 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.G94A:p.A32T . . . . 0.125 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3200G>A dist\x3d16458\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . VI.23 . ENST00000556625 . . . 0.060000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.473 0.473000 . . 0.060000 . . 1.0E-119 . . . . . . . . . 0.473 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005488 T G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005488 191005488 Chr4(GRCh37):g.191005488T>G 105 105 NM_033178.2:c.105T>G p.Ser35Arg p.Ser35Arg 1 606009 transversion T G T>G 0.819 -2.216 S Ser AGT 0.149 R Arg AGG 0.207 35 4 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 205 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.T105G:p.S35R . . . . 0.32692307 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.8174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3189T>G dist\x3d16469\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . 2.115 . ENST00000556625 0.575 -0.93 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.618 -2.618000 . . 1.000000 . . 1.0E-205 . . . . . . . . . -2.618 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005531 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005531 191005531 Chr4(GRCh37):g.191005531C>T 148 148 NM_033178.2:c.148C>T p.Arg50Cys p.Arg50Cys 1 606009 transition C T C>T 0.937 -1.893 R Arg CGT 0.082 C Cys TGT 0.448 50 4 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 224 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.C148T:p.R50C . . . . 0.21875 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.4078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . 0.53 0.26 182 ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3146C>T dist\x3d16512\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . III.03 . ENST00000556625 . . . 0.270000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.037 -2.037000 . . 0.270000 . . 1.0E-224 . . . . . . . . . -2.037 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005561 A C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005561 191005561 Chr4(GRCh37):g.191005561A>C 178 178 NM_033178.2:c.178A>C p.Thr60Pro p.Thr60Pro 1 606009 transversion A C A>C 0.717 0.205 T Thr ACC 0.361 P Pro CCC 0.328 60 4 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 185 PASS . . . . . . . . . . . ENSG00000258389:ENST00000556625:exon1:c.A178C:p.T60P . . . . 0.125 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 56.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3116A>C dist\x3d16542\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.58 . ENST00000556625 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 1.000000 . . 1.0E-185 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,253,255 +. 4 191005597 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005597 191005597 Chr4(GRCh37):g.191005597C>T 214 214 NM_033178.2:c.214C>T p.Leu72Phe p.Leu72Phe 1 606009 transition C T C>T 0.520 -0.763 L Leu CTC 0.197 F Phe TTC 0.546 72 4 2 Macaque 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 146 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3080C>T dist\x3d16578\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . V.27 . . . . . 0.600000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.052 -1.052000 . . 0.600000 . . 1.0E-146 . . . . . . . . . -1.052 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191005620 A G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005620 191005620 Chr4(GRCh37):g.191005620A>G 237 237 NM_033178.2:c.237A>G p.Arg79= p.Arg79Arg 1 606009 Homeobox transition A G A>G 0.976 0.609 R Arg CGA 0.110 R Arg CGG 0.207 79 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3057A>G dist\x3d16601\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 4 191005624 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005624 191005624 Chr4(GRCh37):g.191005624C>T 241 241 NM_033178.2:c.241C>T p.Arg81Trp p.Arg81Trp 1 606009 Homeobox transition C T C>T 0.992 1.013 R Arg CGG 0.207 W Trp TGG 1.000 81 4 4 Lesser hedgehog tenrec -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C65 0.00 101.29 Deleterious 0 IV.32 bad 1.233E-4 0.0001143 124 PASS . . . . . . . . . . . . . . . . 0.12745099 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3053C>T dist\x3d16605\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.000000 . . 1.0E-124 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,231,255 +. 4 191005630 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005630 191005630 Chr4(GRCh37):g.191005630C>A 247 247 NM_033178.2:c.247C>A p.Arg83= p.Arg83Arg 1 606009 Homeobox transversion C A C>A 0.937 -0.198 R Arg CGG 0.207 R Arg AGG 0.207 83 220 PASS . . . . . . . . . . . . . . . . 0.4181818 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3047C>A dist\x3d16611\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 4 191005649 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005649 191005649 Chr4(GRCh37):g.191005649C>T 266 266 NM_033178.2:c.266C>T p.Pro89Leu p.Pro89Leu 1 606009 Homeobox transition C T C>T 0.268 -1.005 P Pro CCG 0.115 L Leu CTG 0.404 89 4 3 Elephant -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C25 37.56 76.16 Deleterious 0.04 IV.32 bad 7.373E-5 0.0003853 154 PASS . . . . . . . . . . . . . . . . 0.15151516 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 165.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-3028C>T dist\x3d16630\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . 0.200000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.073 -1.073000 . . 0.200000 . . 1.0E-154 . . . . . . . . . -1.073 . . . . . . 1 1538 10 1/0 0,211,255 +. 4 191005685 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005685 191005685 Chr4(GRCh37):g.191005685G>A 302 302 NM_033178.2:c.302G>A p.Arg101Gln p.Arg101Gln 1 606009 Homeobox transition G A G>A 0.315 -0.763 R Arg CGG 0.207 Q Gln CAG 0.744 101 4 2 Macaque 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 116.23 0.00 Tolerated 0.26 IV.32 good 9.354E-1 0.04084 177 PASS . . . . . . . . . . . . . . . . 0.10775862 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 232.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2992G>A dist\x3d16666\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.84 . . . . . 0.320000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.074 -1.074000 . . 0.320000 . . 1.0E-177 . . . . . . . . . -1.074 . . . . . . 1 1538 10 1/0 0,191,255 +. 4 191005692 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005692 191005692 Chr4(GRCh37):g.191005692G>A 309 309 NM_033178.2:c.309G>A p.Pro103= p.Pro103Pro 1 606009 Homeobox transition G A G>A 0.969 0.205 P Pro CCG 0.115 P Pro CCA 0.274 103 154 PASS . . . . . . . . . . . . . . . . 0.18292683 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 246.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2985G>A dist\x3d16673\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-154 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,198,255 +. 4 191005704 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005704 191005704 Chr4(GRCh37):g.191005704C>T 321 321 NM_033178.2:c.321C>T p.Ile107= p.Ile107Ile 1 606009 Homeobox transition C T C>T 0.622 -1.086 I Ile ATC 0.481 I Ile ATT 0.356 107 187 PASS . . . . . . . . . . . . . . . . 0.12781955 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 266.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2973C>T dist\x3d16685\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +. 4 191005705 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005705 191005705 Chr4(GRCh37):g.191005705G>A 322 322 NM_033178.2:c.322G>A p.Ala108Thr p.Ala108Thr 1 606009 Homeobox transition G A G>A 0.646 2.223 A Ala GCC 0.403 T Thr ACC 0.361 108 4 2 Macaque 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 58.02 0.00 Tolerated 0.34 IV.32 good 7.676E-1 0.01399 174 PASS . . . . . . . . . . . . . . . . 0.16541353 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 266.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2972G>A dist\x3d16686\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . VI.18 . . . . . 0.620000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.620000 . . 1.0E-174 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,191,255 +. 4 191005734 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005734 191005734 Chr4(GRCh37):g.191005734C>T 351 351 NM_033178.2:c.351C>T p.Ile117= p.Ile117Ile 1 606009 Homeobox transition C T C>T 0.150 -0.602 I Ile ATC 0.481 I Ile ATT 0.356 117 132 PASS . . . . . . . . . . . . . . . . 0.102389075 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 293.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2943C>T dist\x3d16715\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-132 . . . . . . . . . . . . . . . . 1 1538 15 1/0 0,182,255 +. 4 191005742 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005742 191005742 Chr4(GRCh37):g.191005742C>T 359 359 NM_033178.2:c.359C>T p.Pro120Leu p.Pro120Leu 1 606009 Homeobox transition C T C>T 0.110 0.609 P Pro CCG 0.115 L Leu CTG 0.404 120 4 2 Macaque -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 107.75 57.64 Tolerated 0.05 IV.32 good 4.01E-1 0.3977 171 PASS . . . . . . . . . . . . . . . . 0.12631579 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 285.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2935C>T dist\x3d16723\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . VI.18 . . . . . 0.170000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.170000 . . 1.0E-171 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,185,255 +. 4 191005743 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005743 191005743 Chr4(GRCh37):g.191005743G>A 360 360 NM_033178.2:c.360G>A p.Pro120= p.Pro120Pro 1 606009 Homeobox transition G A G>A 0.118 0.690 P Pro CCG 0.115 P Pro CCA 0.274 120 178 PASS . . . . . . . . . . . . . . . . 0.10752688 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 279.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2934G>A dist\x3d16724\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +. 4 191005783 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005783 191005783 Chr4(GRCh37):g.191005783C>T 400 400 NM_033178.2:c.400C>T p.Arg134Cys p.Arg134Cys 1 606009 Homeobox transition C T C>T 0.417 1.174 R Arg CGC 0.190 C Cys TGC 0.552 134 4 2 Macaque -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 126.06 139.73 Deleterious 0.02 IV.32 good 1.501E-2 0.1077 136 PASS . . . . . . . . . . . . . . . . 0.12796208 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 211.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2894C>T dist\x3d16764\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . 0.070000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.070000 . . 1.0E-136 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,199,255 +. 4 191005802 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005802 191005802 Chr4(GRCh37):g.191005802G>A 419 419 NM_033178.2:c.419G>A p.Arg140Gln p.Arg140Gln 1 606009 Homeobox transition G A G>A 0.693 1.739 R Arg CGG 0.207 Q Gln CAG 0.744 140 4 4 Lesser hedgehog tenrec 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C35 0.00 42.81 Deleterious 0 IV.32 bad 1.458E-3 0.0001143 184 PASS . . . . . . . . . . . . . . . . 0.12087912 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 182.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2875G>A dist\x3d16783\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . VI.18 . . . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.340000 . . 9.999999999999999E-185 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,202,255 +. 4 191005841 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191005841 191005841 Chr4(GRCh37):g.191005841C>A 458 458 NM_033178.2:c.458C>A p.Pro153Gln p.Pro153Gln 1 606009 Homeobox transversion C A C>A 0.992 0.528 P Pro CCA 0.274 Q Gln CAA 0.256 153 4 3 Lesser hedgehog tenrec -1 -1 -3 0.39 0.89 8 10.V 32.5 85 76 C0 102.71 34.34 Tolerated 0.06 IV.32 good 3.935E-1 0.2855 225 PASS . . . . . . . . . . . . . . . . 0.22857143 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 105.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2836C>A dist\x3d16822\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . 0.330000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.392 0.392000 . . 0.330000 . . 1.0E-225 . . . . . . . . . 0.392 . . . . . . 1 1538 10 1/0 0,237,255 +. 4 191005849 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191005849 191005849 Chr4(GRCh37):g.191005849C>A 466 466 NM_033178.2:c.466C>A p.Arg156= p.Arg156Arg 1 606009 Homeobox transversion C A C>A 0.992 1.497 R Arg CGG 0.207 R Arg AGG 0.207 156 216 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2828C>A dist\x3d16830\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 4 191006004 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006004 191006004 Chr4(GRCh37):g.191006004G>A 621 621 NM_033178.2:c.621G>A p.Arg207= p.Arg207Arg 1 606009 Homeobox Helix-turn-helix motif transition G A G>A 0.598 0.367 R Arg AGG 0.207 R Arg AGA 0.205 207 205 PASS . . . . . . . . . . . . . . . . 0.17460318 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2673G>A dist\x3d16985\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 4 191006024 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006024 191006024 Chr4(GRCh37):g.191006024G>C 641 641 NM_033178.2:c.641G>C p.Gly214Ala p.Gly214Ala 1 606009 Homeobox transversion G C G>C 0.000 -0.279 G Gly GGT 0.162 A Ala GCT 0.263 214 4 2 Macaque 0 0 0 0.74 0 9 8.I 3 31 60 C0 135.70 46.95 Tolerated 0.27 IV.32 good 1.767E-1 0.1667 255 PASS . . . . . . . . . . . . . . . . 0.37096775 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 62.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2653G>C dist\x3d17005\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . I.28 . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.588 -0.588000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.588 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006028 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006028 191006028 Chr4(GRCh37):g.191006028C>A 645 645 NM_033178.2:c.645C>A p.Gly215= p.Gly215Gly 1 606009 Homeobox transversion C A C>A 0.000 -1.409 G Gly GGC 0.342 G Gly GGA 0.246 215 179 PASS . . . . . . . . . . . . . . . . 0.11290322 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 62.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2649C>A dist\x3d17009\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 4 191006037 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006037 191006037 Chr4(GRCh37):g.191006037C>T 654 654 NM_033178.2:c.654C>T p.Pro218= p.Pro218Pro 1 606009 transition C T C>T 0.000 -1.409 P Pro CCC 0.328 P Pro CCT 0.283 218 182 PASS . . . . . . . . . . . . . . . . 0.118644066 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 59.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2640C>T dist\x3d17018\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 4 191006040 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006040 191006040 Chr4(GRCh37):g.191006040G>A 657 657 NM_033178.2:c.657G>A p.Ala219= p.Ala219Ala 1 606009 transition G A G>A 0.000 -1.167 A Ala GCG 0.107 A Ala GCA 0.226 219 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 57.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2637G>A dist\x3d17021\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 4 191006049 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006049 191006049 Chr4(GRCh37):g.191006049C>T 666 666 NM_033178.2:c.666C>T p.Gly222= p.Gly222Gly 1 606009 transition C T C>T 0.000 -1.409 G Gly GGC 0.342 G Gly GGT 0.162 222 189 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2628C>T dist\x3d17030\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006050 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006050 191006050 Chr4(GRCh37):g.191006050G>A 667 667 NM_033178.2:c.667G>A p.Gly223Ser p.Gly223Ser 1 606009 transition G A G>A 0.000 0.528 G Gly GGC 0.342 S Ser AGC 0.243 223 4 2 Macaque 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 181 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 51.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2627G>A dist\x3d17031\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.56 . . . . . 0.820000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.588 -0.588000 . . 0.820000 . . 1.0E-181 . . . . . . . . . -0.588 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006054 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006054 191006054 Chr4(GRCh37):g.191006054T>C 671 671 NM_033178.2:c.671T>C p.Leu224Pro p.Leu224Pro 1 606009 transition T C T>C 0.000 0.044 L Leu CTG 0.404 P Pro CCG 0.115 224 4 2 Macaque -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 195 PASS . . . . . . . . . . . . . . . . 0.14893617 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2623T>C dist\x3d17035\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.11 . . . . . 0.210000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.331 0.331000 . . 0.210000 . . 9.999999999999999E-196 . . . . . . . . . 0.331 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006055 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006055 191006055 Chr4(GRCh37):g.191006055G>A 672 672 NM_033178.2:c.672G>A p.Leu224= p.Leu224Leu 1 606009 transition G A G>A 0.000 -0.117 L Leu CTG 0.404 L Leu CTA 0.070 224 191 PASS . . . . . . . . . . . . . . . . 0.14 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2622G>A dist\x3d17036\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006077 G T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006077 191006077 Chr4(GRCh37):g.191006077G>T 694 694 NM_033178.2:c.694G>T p.Gly232Cys p.Gly232Cys 1 606009 transversion G T G>T 0.016 -0.279 G Gly GGT 0.162 C Cys TGT 0.448 232 4 1 -3 -3 -6 0.74 II.75 9 5.V 3 55 159 C0 353.86 0.00 Tolerated 0.17 IV.32 unknown 0.0 0.0 246 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2600G>T dist\x3d17058\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . 0.190000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.588 -0.588000 . . 0.190000 . . 1.0E-246 . . . . . . . . . -0.588 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006101 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006101 191006101 Chr4(GRCh37):g.191006101G>A 718 718 NM_033178.2:c.718G>A p.Ala240Thr p.Ala240Thr 1 606009 transition G A G>A 0.992 1.900 A Ala GCC 0.403 T Thr ACC 0.361 240 4 2 Macaque 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 209.31 29.38 Tolerated 0.06 IV.32 good 1.479E-2 0.001482 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 58.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2576G>A dist\x3d17082\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . V.78 . . . . . 0.600000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.600000 . . 1.0E-175 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,250,255 +. 4 191006118 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006118 191006118 Chr4(GRCh37):g.191006118C>T 735 735 NM_033178.2:c.735C>T p.Gly245= p.Gly245Gly 1 606009 transition C T C>T 0.890 0.932 G Gly GGC 0.342 G Gly GGT 0.162 245 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2559C>T dist\x3d17099\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006121 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006121 191006121 Chr4(GRCh37):g.191006121G>A 738 738 NM_033178.2:c.738G>A p.Ala246= p.Ala246Ala 1 606009 transition G A G>A 0.661 1.900 A Ala GCG 0.107 A Ala GCA 0.226 246 141 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2556G>A dist\x3d17102\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-141 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006129 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006129 191006129 Chr4(GRCh37):g.191006129C>T 746 746 NM_033178.2:c.746C>T p.Thr249Met p.Thr249Met 1 606009 transition C T C>T 0.465 1.900 T Thr ACG 0.116 M Met ATG 1.000 249 4 2 Macaque -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 215.24 59.13 Deleterious 0.01 IV.32 good 2.581E-2 0.01641 108 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2548C>T dist\x3d17110\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . V.78 . . . . . 0.140000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.140000 . . 1.0E-108 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006139 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006139 191006139 Chr4(GRCh37):g.191006139C>T 756 756 NM_033178.2:c.756C>T p.Pro252= p.Pro252Pro 1 606009 transition C T C>T 0.370 -0.602 P Pro CCC 0.328 P Pro CCT 0.283 252 151 PASS . . . . . . . . . . . . . . . . 0.14634146 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2538C>T dist\x3d17120\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-151 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006140 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006140 191006140 Chr4(GRCh37):g.191006140G>A 757 757 NM_033178.2:c.757G>A p.Ala253Thr p.Ala253Thr 1 606009 transition G A G>A 0.362 1.900 A Ala GCA 0.226 T Thr ACA 0.280 253 4 2 Macaque 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 240.36 8.IX Tolerated 0.16 IV.32 bad 2.849E-3 0.003104 217 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2537G>A dist\x3d17121\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . V.78 . . . . . 0.620000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.620000 . . 1.0E-217 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006141 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006141 191006141 Chr4(GRCh37):g.191006141C>A 758 758 NM_033178.2:c.758C>A p.Ala253Glu p.Ala253Glu 1 606009 transversion C A C>A 0.244 -0.682 A Ala GCA 0.226 E Glu GAA 0.417 253 4 2 Macaque -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 240.36 67.97 Tolerated 0.12 IV.32 bad 1.81E-5 0.003104 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2536C>A dist\x3d17122\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . III.11 . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 1.000000 . . 9.999999999999999E-193 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006148 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006148 191006148 Chr4(GRCh37):g.191006148C>T 765 765 NM_033178.2:c.765C>T p.His255= p.His255His 1 606009 transition C T C>T 0.307 -0.763 H His CAC 0.587 H His CAT 0.413 255 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2529C>T dist\x3d17129\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006159 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006159 191006159 Chr4(GRCh37):g.191006159C>T 776 776 NM_033178.2:c.776C>T p.Ala259Val p.Ala259Val 1 606009 transition C T C>T 0.803 0.205 A Ala GCG 0.107 V Val GTG 0.468 259 4 2 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 251 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2518C>T dist\x3d17140\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . III.11 . . . . . 0.290000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.290000 . . 1.0E-251 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006173 C G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006173 191006173 Chr4(GRCh37):g.191006173C>G 790 790 NM_033178.2:c.790C>G p.Pro264Ala p.Pro264Ala 1 606009 transversion C G C>G 0.976 1.013 P Pro CCA 0.274 A Ala GCA 0.226 264 4 1 -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 115 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 35.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2504C>G dist\x3d17154\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . 0.440000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.440000 . . 1.0E-115 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006198 C G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006198 191006198 Chr4(GRCh37):g.191006198C>G 815 815 NM_033178.2:c.815C>G p.Ala272Gly p.Ala272Gly 1 606009 transversion C G C>G 0.992 1.577 A Ala GCA 0.226 G Gly GGA 0.246 272 4 1 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 21.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2479C>G dist\x3d17179\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . V.78 . . . . . 0.630000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.630000 . . 1.0E-255 . . . . . . . . . -0.000 . . . . rs80113703 rs80113703 1 1538 10 1/0 0,255,255 +. 4 191006283 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006283 191006283 Chr4(GRCh37):g.191006283C>T 900 900 NM_033178.2:c.900C>T p.Phe300= p.Phe300Phe 1 606009 transition C T C>T 0.189 1.174 F Phe TTC 0.546 F Phe TTT 0.454 300 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2394C>T dist\x3d17264\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006310 C A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006310 191006310 Chr4(GRCh37):g.191006310C>A 927 927 NM_033178.2:c.927C>A p.Asp309Glu p.Asp309Glu 1 606009 transversion C A C>A 0.882 -0.037 D Asp GAC 0.539 E Glu GAA 0.417 309 4 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2367C>A dist\x3d17291\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.000000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006340 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006340 191006340 Chr4(GRCh37):g.191006340G>C 957 957 NM_033178.2:c.957G>C p.Arg319= p.Arg319Arg 1 606009 transversion G C G>C 0.102 -0.440 R Arg CGG 0.207 R Arg CGC 0.190 319 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2337G>C dist\x3d17321\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006349 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006349 191006349 Chr4(GRCh37):g.191006349G>A 966 966 NM_033178.2:c.966G>A p.Pro322= p.Pro322Pro 1 606009 transition G A G>A 0.205 1.174 P Pro CCG 0.115 P Pro CCA 0.274 322 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2328G>A dist\x3d17330\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006354 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006354 191006354 Chr4(GRCh37):g.191006354C>T 971 971 NM_033178.2:c.971C>T p.Pro324Leu p.Pro324Leu 1 606009 transition C T C>T 0.063 -1.086 P Pro CCG 0.115 L Leu CTG 0.404 324 4 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 177 PASS . . . . . . . . . . . . . . . . 0.19565217 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2323C>T dist\x3d17335\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . 4.0654 . . . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.073 -1.073000 . . 0.000000 . . 1.0E-177 . . . . . . . . . -1.073 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006355 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006355 191006355 Chr4(GRCh37):g.191006355G>A 972 972 NM_033178.2:c.972G>A p.Pro324= p.Pro324Pro 1 606009 transition G A G>A 0.039 -0.440 P Pro CCG 0.115 P Pro CCA 0.274 324 131 PASS . . . . . . . . . . . . . . . . 0.14583333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-2322G>A dist\x3d17336\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-131 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006727 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006727 191006727 Chr4(GRCh37):g.191006727G>A 1344 1344 NM_033178.2:c.1344G>A p.Ala448= p.Ala448Ala 1 606009 transition G A G>A 0.000 -2.216 A Ala GCG 0.107 A Ala GCA 0.226 448 177 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1950G>A dist\x3d17708\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006734 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006734 191006734 Chr4(GRCh37):g.191006734C>T 1351 1351 NM_033178.2:c.1351C>T p.Leu451Phe p.Leu451Phe 1 606009 transition C T C>T 0.000 -1.812 L Leu CTC 0.197 F Phe TTC 0.546 451 4 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.7692308 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 26.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.6060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1943C>T dist\x3d17715\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . IV.29 . . . . . 0.690000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.872 -1.872000 . . 0.690000 . . 1.0E-255 . . . . . . . . . -1.872 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006771 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006771 191006771 Chr4(GRCh37):g.191006771C>T 1388 1388 NM_033178.2:c.1388C>T p.Ser463Leu p.Ser463Leu 1 606009 transition C T C>T 0.000 -2.135 S Ser TCG 0.056 L Leu TTG 0.127 463 4 1 -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.9032258 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.5402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1906C>T dist\x3d17752\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . 0.430000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.037 -2.037000 . . 0.430000 . . 1.0E-255 . . . . . . . . . -2.037 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006781 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006781 191006781 Chr4(GRCh37):g.191006781C>T 1398 1398 NM_033178.2:c.1398C>T p.Ala466= p.Ala466Ala 1 606009 transition C T C>T 0.000 -0.440 A Ala GCC 0.403 A Ala GCT 0.263 466 171 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 34.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1896C>T dist\x3d17762\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006787 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution synonymous exon GRCh37 191006787 191006787 Chr4(GRCh37):g.191006787G>A 1404 1404 NM_033178.2:c.1404G>A p.Ser468= p.Ser468Ser 1 606009 transition G A G>A 0.079 -0.521 S Ser TCG 0.056 S Ser TCA 0.148 468 193 PASS . . . . . . . . . . . . . . . . 0.2647059 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 34.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1890G>A dist\x3d17768\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006818 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution missense exon GRCh37 191006818 191006818 Chr4(GRCh37):g.191006818C>T 1435 1435 NM_033178.2:c.1435C>T p.Arg479Trp p.Arg479Trp 1 606009 transition C T C>T 0.063 0.125 R Arg CGG 0.207 W Trp TGG 1.000 479 4 1 -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 35.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1859C>T dist\x3d17799\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.18 . . . . . 0.110000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.398 0.398000 . . 0.110000 . . 9.999999999999999E-193 . . . . . . . . . 0.398 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191006920 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191006920 191006920 Chr4(GRCh37):g.191006920C>T *79 *79 NM_033178.2:c.*79C>T p.? p.? 1 606009 transition C T C>T 0.079 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.5714286 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intergenic . . . @ . . . . . . ENSG00000258389 DUX4L5 . . uc011clk.2:c.-1757C>T dist\x3d17901\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008703 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008703 191008703 Chr4(GRCh37):g.191008703T>C *1862 *1862 NM_033178.2:c.*1862T>C p.? p.? 1 606009 transition T C T>C 0.953 0.125 239 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.T27C:p.C9C DUX4L5:uc011clk.2:exon1:c.T27C:p.C9C . . . 0.28 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 25.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.4 0.35 182 ENSG00000259034 DUX4L5 . . . dist\x3d19684\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008713 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008713 191008713 Chr4(GRCh37):g.191008713C>T *1872 *1872 NM_033178.2:c.*1872C>T p.? p.? 1 606009 transition C T C>T 0.898 -1.974 177 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.C37T:p.Q13X DUX4L5:uc011clk.2:exon1:c.C37T:p.Q13X . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . . exonic exonic intergenic . . . @ . . . 0.53 0.32 182 ENSG00000259034 DUX4L5 . . . dist\x3d19694\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.79 . . . . . . . . . . . . . IV.62 . ENST00000554690 . . . 0.670000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.037 -2.037000 . . 0.670000 . . 1.0E-177 . . . . . . . . . -2.037 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008717 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008717 191008717 Chr4(GRCh37):g.191008717G>A *1876 *1876 NM_033178.2:c.*1876G>A p.? p.? 1 606009 transition G A G>A 0.945 -1.893 233 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.G41A:p.G14E DUX4L5:uc011clk.2:exon1:c.G41A:p.G14E . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.6441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.57 0.41 182 ENSG00000259034 DUX4L5 . . . dist\x3d19698\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.22 . . . . . . . . . . . . . IV.62 . ENST00000554690 . . . 0.340000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.068 -2.068000 . . 0.340000 . . 1.0000000000000001E-233 . . . . . . . . . -2.068 . . . . rs36191744 rs36191744 1 1538 10 1/0 0,255,255 +. 4 191008728 G C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008728 191008728 Chr4(GRCh37):g.191008728G>C *1887 *1887 NM_033178.2:c.*1887G>C p.? p.? 1 606009 transversion G C G>C 0.969 -0.279 211 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.G52C:p.G18R DUX4L5:uc011clk.2:exon1:c.G52C:p.G18R . . . 0.19354838 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.55 0.3 182 ENSG00000259034 DUX4L5 . . . dist\x3d19709\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.88 . . . . . . . . . . . . . III.85 . ENST00000554690 . . . 0.040000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.064 0.064000 . . 0.040000 . . 1.0E-211 . . . . . . . . . 0.064 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008753 T C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008753 191008753 Chr4(GRCh37):g.191008753T>C *1912 *1912 NM_033178.2:c.*1912T>C p.? p.? 1 606009 transition T C T>C 0.906 1.416 202 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.T77C:p.L26P DUX4L5:uc011clk.2:exon1:c.T77C:p.L26P . . . 0.1627907 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.52 0.27 182 ENSG00000259034 DUX4L5 . . . dist\x3d19734\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . IV.11 . ENST00000554690 . . . 0.070000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.331 0.331000 . . 0.070000 . . 1.0E-202 . . . . . . . . . 0.331 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008769 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008769 191008769 Chr4(GRCh37):g.191008769C>T *1928 *1928 NM_033178.2:c.*1928C>T p.? p.? 1 606009 transition C T C>T 0.992 1.577 178 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.C93T:p.A31A DUX4L5:uc011clk.2:exon1:c.C93T:p.A31A . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.52 0.29 182 ENSG00000259034 DUX4L5 . . . dist\x3d19750\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008770 G A - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008770 191008770 Chr4(GRCh37):g.191008770G>A *1929 *1929 NM_033178.2:c.*1929G>A p.? p.? 1 606009 transition G A G>A 0.984 1.577 108 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.G94A:p.A32T DUX4L5:uc011clk.2:exon1:c.G94A:p.A32T . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.54 0.27 182 ENSG00000259034 DUX4L5 . . . dist\x3d19751\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . V.78 . ENST00000554690 . . . 0.060000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.060000 . . 1.0E-108 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008781 T G - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008781 191008781 Chr4(GRCh37):g.191008781T>G *1940 *1940 NM_033178.2:c.*1940T>G p.? p.? 1 606009 transversion T G T>G 0.961 -1.086 234 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.T105G:p.S35R DUX4L5:uc011clk.2:exon1:c.T105G:p.S35R . . . 0.36363637 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.5140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.49 0.32 182 ENSG00000259034 DUX4L5 . . . dist\x3d19762\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 . . . . . . . . . . . . . 3.369 . ENST00000554690 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.104 -1.104000 . . 1.000000 . . 1.0E-234 . . . . . . . . . -1.104 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008824 C T - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008824 191008824 Chr4(GRCh37):g.191008824C>T *1983 *1983 NM_033178.2:c.*1983C>T p.? p.? 1 606009 transition C T C>T 0.827 2.142 241 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.C148T:p.R50C DUX4L5:uc011clk.2:exon1:c.C148T:p.R50C . . . 0.27083334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.56 0.28 182 ENSG00000259034 DUX4L5 . . . dist\x3d19805\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.15 . . . . . . . . . . . . . V.78 . ENST00000554690 . . . 0.270000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 0.270000 . . 1.0E-241 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 4 191008854 A C - DUX4 3082 Double homeobox 4 NM_033178.2 1 1617 1458 NP_149418.3 substitution downstream GRCh37 191008854 191008854 Chr4(GRCh37):g.191008854A>C *2013 *2013 NM_033178.2:c.*2013A>C p.? p.? 1 606009 transversion A C A>C 0.165 0.851 187 PASS . . . . . . . . . . . ENSG00000259034:ENST00000554690:exon1:c.A178C:p.T60P DUX4L5:uc011clk.2:exon1:c.A178C:p.T60P . . . 0.13043478 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.3964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.56 0.3 182 ENSG00000259034 DUX4L5 . . . dist\x3d19835\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.8 . . . . . . . . . . . . . IV.58 . ENST00000554690 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.000 -0.000000 . . 1.000000 . . 1.0E-187 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. (chr4:191008890 C/T) 4 191008890 C T Not on a known gene +. (chr4:191008906 G/A) 4 191008906 G A Not on a known gene +. (chr4:191008913 A/G) 4 191008913 A G Not on a known gene +. (chr4:191008923 C/A) 4 191008923 C A Not on a known gene +. (chr4:191008942 C/T) 4 191008942 C T Not on a known gene +. (chr4:191008962 C/T) 4 191008962 C T Not on a known gene +. (chr4:191008985 G/A) 4 191008985 G A Not on a known gene +. (chr4:191008991 G/A) 4 191008991 G A Not on a known gene +. (chr4:191008997 C/T) 4 191008997 C T Not on a known gene +. (chr4:191009010 C/T) 4 191009010 C T Not on a known gene +. (chr4:191009036 G/A) 4 191009036 G A Not on a known gene +. (chr4:191009055 T/C) 4 191009055 T C Not on a known gene +. (chr4:191009077 G/A) 4 191009077 G A Not on a known gene +. (chr4:191009125 G/A) 4 191009125 G A Not on a known gene +. (chr4:191009134 C/A) 4 191009134 C A Not on a known gene +. (chr4:191009142 C/A) 4 191009142 C A Not on a known gene +. (chr4:191009234 G/A) 4 191009234 G A Not on a known gene +. (chr4:191009317 G/C) 4 191009317 G C Not on a known gene +. (chr4:191009370 G/T) 4 191009370 G T Not on a known gene +. (chr4:191009411 C/T) 4 191009411 C T Not on a known gene +. (chr4:191009452 C/T) 4 191009452 C T Not on a known gene +. (chr4:191009453 G/A) 4 191009453 G A Not on a known gene +. (chr4:191009491 C/G) 4 191009491 C G Not on a known gene +. (chr4:191009564 G/A) 4 191009564 G A Not on a known gene +. (chr4:191009576 C/T) 4 191009576 C T Not on a known gene +. (chr4:191009600 G/A) 4 191009600 G A Not on a known gene +. (chr4:191009603 C/A) 4 191009603 C A Not on a known gene +. (chr4:191009631 C/T) 4 191009631 C T Not on a known gene +. (chr4:191009633 G/C) 4 191009633 G C Not on a known gene +. (chr4:191009641 C/T) 4 191009641 C T Not on a known gene +. (chr4:191009653 A/G) 4 191009653 A G Not on a known gene +. (chr4:191009953 G/C) 4 191009953 G C Not on a known gene +. (chr4:191009968 G/C) 4 191009968 G C Not on a known gene +. (chr4:191010019 C/T) 4 191010019 C T Not on a known gene +. (chr4:191010020 G/A) 4 191010020 G A Not on a known gene +. (chr4:191010027 C/T) 4 191010027 C T Not on a known gene +. (chr4:191010064 C/T) 4 191010064 C T Not on a known gene +. (chr4:191010065 G/C) 4 191010065 G C Not on a known gene +. (chr4:191010074 C/T) 4 191010074 C T Not on a known gene +. (chr4:191010080 G/A) 4 191010080 G A Not on a known gene +. (chr4:191010213 C/T) 4 191010213 C T Not on a known gene +. (chr4:191010221 C/T) 4 191010221 C T Not on a known gene +. (chr4:191010228 C/T) 4 191010228 C T Not on a known gene +. (chr4:191010230 G/C) 4 191010230 G C Not on a known gene +. (chr4:191010345 C/A) 4 191010345 C A Not on a known gene +. (chr4:191011103 A/C) 4 191011103 A C Not on a known gene +. (chr4:191011133 C/G) 4 191011133 C G Not on a known gene +. (chr4:191012013 C/T) 4 191012013 C T Not on a known gene +. (chr4:191012017 G/A) 4 191012017 G A Not on a known gene +. (chr4:191012028 G/C) 4 191012028 G C Not on a known gene +. (chr4:191012044 G/A) 4 191012044 G A Not on a known gene +. (chr4:191012053 T/C) 4 191012053 T C Not on a known gene +. (chr4:191012081 T/G) 4 191012081 T G Not on a known gene +. (chr4:191012124 C/T) 4 191012124 C T Not on a known gene +. (chr4:191012132 C/T) 4 191012132 C T Not on a known gene +. (chr4:191012142 C/T) 4 191012142 C T Not on a known gene +. (chr4:191012154 A/C) 4 191012154 A C Not on a known gene +. (chr4:191012184 A/G) 4 191012184 A G Not on a known gene +. (chr4:191012190 C/T) 4 191012190 C T Not on a known gene +. (chr4:191012213 A/G) 4 191012213 A G Not on a known gene +. (chr4:191012217 C/T) 4 191012217 C T Not on a known gene +. (chr4:191012223 C/A) 4 191012223 C A Not on a known gene +. (chr4:191012242 C/T) 4 191012242 C T Not on a known gene +. (chr4:191012278 G/A) 4 191012278 G A Not on a known gene +. (chr4:191012285 G/A) 4 191012285 G A Not on a known gene +. (chr4:191012290 C/T) 4 191012290 C T Not on a known gene +. (chr4:191012297 C/T) 4 191012297 C T Not on a known gene +. (chr4:191012298 G/A) 4 191012298 G A Not on a known gene +. (chr4:191012310 C/T) 4 191012310 C T Not on a known gene +. (chr4:191012335 C/T) 4 191012335 C T Not on a known gene +. (chr4:191012336 G/A) 4 191012336 G A Not on a known gene +. (chr4:191012355 T/C) 4 191012355 T C Not on a known gene +. (chr4:191012376 C/T) 4 191012376 C T Not on a known gene +. (chr4:191012395 G/A) 4 191012395 G A Not on a known gene +. (chr4:191012434 C/A) 4 191012434 C A Not on a known gene +. (chr4:191012442 C/A) 4 191012442 C A Not on a known gene +. (chr4:191012617 G/C) 4 191012617 G C Not on a known gene +. (chr4:191012670 G/T) 4 191012670 G T Not on a known gene +. (chr4:191012711 C/T) 4 191012711 C T Not on a known gene +. (chr4:191012713 C/T) 4 191012713 C T Not on a known gene +. (chr4:191012722 C/T) 4 191012722 C T Not on a known gene +. (chr4:191012726 G/T) 4 191012726 G T Not on a known gene +. (chr4:191012727 C/T) 4 191012727 C T Not on a known gene +. (chr4:191012742 G/A) 4 191012742 G A Not on a known gene +. (chr4:191012750 C/T) 4 191012750 C T Not on a known gene +. (chr4:191012752 C/T) 4 191012752 C T Not on a known gene +. (chr4:191012780 C/T) 4 191012780 C T Not on a known gene +. (chr4:191012791 C/G) 4 191012791 C G Not on a known gene +. (chr4:191012794 C/T) 4 191012794 C T Not on a known gene +. (chr4:191012903 C/A) 4 191012903 C A Not on a known gene +. (chr4:191013327 C/T) 4 191013327 C T Not on a known gene +. (chr4:191013344 C/A) 4 191013344 C A Not on a known gene +. (chr4:191013347 G/A) 4 191013347 G A Not on a known gene +. (chr4:191013364 C/T) 4 191013364 C T Not on a known gene +. (chr4:191013374 C/T) 4 191013374 C T Not on a known gene +. (chr4:191013375 G/A) 4 191013375 G A Not on a known gene +. (chr4:191013380 G/A) 4 191013380 G A Not on a known gene +. (chr4:191013399 G/A) 4 191013399 G A Not on a known gene +rs111509457 (chr4:191013513 C/T) 4 191013513 C T Not on a known gene +. (chr4:191013528 C/T) 4 191013528 C T Not on a known gene +. (chr4:191013530 G/C) 4 191013530 G C Not on a known gene +. (chr4:191013678 G/A) 4 191013678 G A Not on a known gene +rs190870417 5 195299 G A - LRRC14B 37268 Leucine rich repeat containing 14B NM_001080478.2 1 2554 1545 NP_001073947.1 A6NHZ5 substitution missense exon GRCh37 195299 195299 Chr5(GRCh37):g.195299G>A 1376 1376 NM_001080478.2:c.1376G>A p.Arg459His p.Arg459His 2 477 3' 79.6103 X.94 0.457325 XII.99 79.6103 X.94 0.457325 XII.99 0 rs190870417 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000422 0.000125 0.000232 0.000000 0.000000 0.000000 0.000789 0.000117 0.000464 0.000789 117 3 8 0 0 0 100 3 3 277024 24028 34418 10152 18870 30782 126718 25594 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 3 8 0 0 0 100 3 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8547 4358 12905 1 0 1 0.000116986 0 7.74833e-05 0.000116986 0 7.74833e-05 119 COSM6458131 Upper aerodigestive tract 0.000804 1244 transition G A G>A 0.000 -0.198 R Arg CGT 0.082 H His CAT 0.413 459 12 6 Dog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 157.63 0.00 Tolerated 0.14 III.33 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . ENSG00000185028:ENST00000328278:exon2:c.G1376A:p.R459H LRRC14B:uc003jal.1:exon2:c.G1376A:p.R459H LRRC14B:NM_001080478:exon2:c.G1376A:p.R459H . . 0.424581 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.140 . @ . . . . . 1 0.153 . . 179.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R459H|LRRC14B|mRNA|CODING|NM_001080478|NM_001080478.ex.2) . 0.0001 0.0001 . 0.0001 0.0001 . -0.9368 -0.941 -0.937 c . . . . . 5.645e-04 . . . 0 0.0002 0.0002 0 0.0003 0.0003 0 6.06e-05 0 0.0006 0.0002 0 0.0002 0.0011 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.014 . . exonic exonic exonic . . 0.078 0.0002 . . . 0.11 0.38 182 ENSG00000185028 LRRC14B LRRC14B . . . 0.992 0.327 . 21 0.000323196 64976 20 0.000333411 59986 Uncertain_significance . 0 . 0.088 . . . . T 0.031 0.002 . . 37 . 0.014 . . 0.451 . . . 0.187 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.181 . . 0 0 0 0 0 0 . 0.126 . . 0.080 . . . . . . 0 0.133 . . . . . 0.396 . 0.037 . HET 0.38 rs190870417 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 IX.97 0.0 ENST00000328278 V.41 -1.66 . 0.320000 A6NHZ5 . . . 0.000077 . 0.095 . . . 6.535e-05 0.0005 0.0002 0 0 0.0001 0.0009 0.0004 0 0.0002 0.0001 0.0012 0 0 0 0 0.0010 . . 0.283 . -0.195 -0.195000 . . 0.320000 . . 1.0E-255 0.197 0.241 . 0.126 0.028 . 0.249 . 0.713 -0.195 -0.436 0.0028 . . rs190870417 rs190870417 1 1538 10 1/0 0,230,255 +rs140736646 5 223666 G A - SDHA 10680 Succinate dehydrogenase complex flavoprotein subunit A NM_004168.3 1 2790 1995 NP_004159.2 P31040 substitution missense exon GRCh37 223666 223666 Chr5(GRCh37):g.223666G>A 133 133 NM_004168.3:c.133G>A p.Ala45Thr p.Ala45Thr 2 600857 -18 5' 73.6467 X.74 0.988796 4.49666 73.6467 X.74 0.988796 3.88479 0 rs140736646 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000408 0.000083 0.000232 0.000000 0.000000 0.000000 0.000767 0.000116 0.000464 0.000767 113 2 8 0 0 0 97 3 3 276942 24038 34420 10152 18870 30782 126426 25792 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 113 2 8 0 0 0 97 3 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 95 RCV000210508.3|RCV000347454.1|RCV000410936.1|RCV000401643.1|RCV000308179.1 germline|germline|unknown|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing VUS|VUS|VUS|VUS|VUS 1|1|1|1|1 |Pheochromocytoma|Paragangliomas 5|Mitochondrial complex II deficiency|Leigh syndrome CM176210 Paraganglioma DM? COSM6458132 Upper aerodigestive tract 0.000804 1244 transition G A G>A 1.000 3.757 A Ala GCT 0.263 T Thr ACT 0.243 45 13 11 Baker's yeast 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 197.75 0.00 Tolerated 0.12 III.79 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . . . . . . 0.5641026 . . germline 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.472 . Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000210508.2|RCV000210508.2|RCV000308179.1|RCV000347454.1|RCV000401643.1|RCV000410936.1 Mitochondrial_complex_II_deficiency|Paragangliomas_5|Leigh_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Paragangliomas_5 MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet|MedGen:OMIM C1855008:252011:ORPHA3208|C3279992:614165|C0023264:256000:ORPHA506:29570005|C0031511:171300|C1855008:252011:ORPHA3208|C3279992:614165 1 0.713 . . 39.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.0639 0.223 0.064 c . . . . . 5.525e-04 . . . 0 0.0002 0.0002 0 0.0003 0.0002 0 6.06e-05 0 0.0006 0.0002 0 0.0002 0.0011 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.734 . . exonic exonic exonic . . 0.924 0.0002 . . . 0.34 0.35 182 ENSG00000073578 SDHA SDHA . . . 1.000 0.747 . 12 0.000184684 64976 11 0.000183376 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.383 0.017 . . 37 . 0.730 . . 0.680 . . . 0.453 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.324 . . 0 0 0 0 0 0 . 0.144 . . 0.139 . . . . . . 0 0.351 . . . . . 0.878 . 0.634 . HET 0 rs140736646 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 17.5782 0.0 . V.81 V.81 . 0.120000 . . . . 0.000077 . 0.381 . . V.81 0 0.0004 0.0002 0 0 0.0001 0.0009 0.0004 0 0.0002 0.0001 0.0012 0 0 0 0 0.0010 . . 0.924 . 2.751 2.751000 . . 0.120000 . . 1.0E-255 1.000 0.715 . 0.653 0.917 . 0.479 . 0.663 2.751 0.897 0.0028 . . rs140736646 rs140736646 1 1538 10 1/0 0,255,255 +. 5 256434 ACT A - SDHA 10680 Succinate dehydrogenase complex flavoprotein subunit A NM_004168.3 1 2790 1995 NP_004159.2 P31040 deletion intron GRCh37 256437 256438 Chr5(GRCh37):g.256437_256438del 1909-12 1909-11 NM_004168.3:c.1909-12_1909-11del p.? p.? 15 14 600857 -11 3' 86.0759 8.91482 0.925821 XI.33 83.0169 IX.06 0.862862 X.06 -0.0122374 rs372662724 yes no Frequency 1 0.000000 0 0.000117 0.000345 0.000088 0.000099 0.000054 0.000000 0.000088 0.000275 0.000157 0.000345 32 8 3 1 1 0 11 7 1 273754 23198 34216 10124 18598 30768 125022 25468 6360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 8 3 1 1 0 11 7 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes RCV000483037.1|RCV000394391.1|RCV000492532.1|RCV000337728.1|RCV000281629.1 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Likely benign|VUS|Likely benign|VUS|VUS 1|1|1|1|1 not specified|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Leigh syndrome|Mitochondrial complex II deficiency CT 255 Pass . . . . . . . . . . . . . . . . 0.26890758 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000281629.1|RCV000337728.1|RCV000394391.1 Mitochondrial_complex_II_deficiency|Leigh_syndrome|Pheochromocytoma MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM C1855008:252011:ORPHA3208|C0023264:256000:ORPHA506:29570005|C0031511:171300 2 . . . 119 . . . . . . . . . . . . . . . . . . . 2.368e-05 . . . 0 1.105e-05 0 0 0 2.374e-05 0 0 0 9.44e-06 0 0 0 1.84e-05 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000073578 SDHA SDHA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372662724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0010 0.0011 0.0041 0.0036 0.0007 0.0022 0.0008 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372662724 rs372662724 1 1538 10 1.I 0,10,57 +. 5 304349 AGACG A - AHRR 346 Aryl-hydrocarbon receptor repressor NM_020731.4 1 5661 2160 NP_065782.2 deletion intron GRCh37 304353 304356 Chr5(GRCh37):g.304353_304356del 2+17 2+20 NM_020731.4:c.2+17_2+20del p.? p.? 1 1 606517 17 5' 83.257 6.69345 0.94081 3.31044 83.257 6.69345 0.94081 3.01331 0 rs542638819 yes no Frequency 1 0.000000 0 0.002044 0.007174 0.000723 0.001062 0.000120 0.001939 0.001771 0.002695 0.002041 0.007174 422 116 17 6 2 35 175 61 10 206450 16170 23512 5650 16698 18054 98830 22636 4900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 422 116 17 6 2 35 175 61 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes GGAC 255 Pass . . . . . . . . . . . . . . . . 0.37777779 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . . 0.011 0.0096 0.009 . . . . . . . . . . . . . 2.314e-03 . . . 0.0110 0.0039 0.0008 0.0004 0.0031 0.0042 0.0065 0.0045 0.0106 0.0029 0.0009 0.0002 0.0020 0.0026 0.0049 0.0045 . . . . . . intronic intronic intronic . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs542638819 . . . . . . . . . . . . . . . . . . . . . . . 0.009598 . . . . . 0.0060 0.0012 0.0004 0.0006 0 0.0004 0.0012 0.0013 0.0019 0.0088 0.0074 0.0087 0.0117 0.0012 0.0161 0.0054 0.0054 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1.I 0,12,42 +. 5 304349 AGACG A - PDCD6 8765 Programmed cell death 6 NM_013232.3 1 1135 576 NP_037364.1 O75340 deletion intron GRCh37 304353 304356 Chr5(GRCh37):g.304353_304356del 208+17 208+20 NM_013232.3:c.208+17_208+20del p.? p.? 3 3 601057 17 5' 83.257 6.69345 0.94081 3.31044 83.257 6.69345 0.94081 3.01331 0 rs542638819 yes no Frequency 1 0.000000 0 0.002044 0.007174 0.000723 0.001062 0.000120 0.001939 0.001771 0.002695 0.002041 0.007174 422 116 17 6 2 35 175 61 10 206450 16170 23512 5650 16698 18054 98830 22636 4900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 422 116 17 6 2 35 175 61 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes GGAC 255 Pass . . . . . . . . . . . . . . . . 0.37777779 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . . 0.011 0.0096 0.009 . . . . . . . . . . . . . 2.314e-03 . . . 0.0110 0.0039 0.0008 0.0004 0.0031 0.0042 0.0065 0.0045 0.0106 0.0029 0.0009 0.0002 0.0020 0.0026 0.0049 0.0045 . . . . . . intronic intronic intronic . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs542638819 . . . . . . . . . . . . . . . . . . . . . . . 0.009598 . . . . . 0.0060 0.0012 0.0004 0.0006 0 0.0004 0.0012 0.0013 0.0019 0.0088 0.0074 0.0087 0.0117 0.0012 0.0161 0.0054 0.0054 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1.I 0,12,42 +. 5 712078 G C - ZDHHC11B 32962 Zinc finger DHHC-type containing 11B NM_001351303.1 -1 3051 1116 NP_001338232.1 P0C7U3 substitution 3'UTR GRCh37 712078 712078 Chr5(GRCh37):g.712078G>C *327 *327 NM_001351303.1:c.*327C>G p.? p.? 11 320 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 transversion C G C>G 0.795 0.690 252 PASS . . . . . . . . . . . . . . . . 0.31092438 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intergenic intergenic . . . @ . . . . . . ENSG00000206077 . . ENST00000508859:c.*327C>G dist\x3d18568\x3bdist\x3d83642 dist\x3d18568\x3bdist\x3d83642 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs200316029 5 795940 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795940 795940 Chr5(GRCh37):g.795940G>A *763 *763 NM_024786.2:c.*763C>T p.? p.? 13 756 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs200316029 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.016 1.093 212 PASS . . . . . . . . . . . . . . . . 0.18987341 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 237.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.3385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.46 0.62 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*763C>T uc011cma.1:c.*763C>T NM_024786:c.*763C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200316029 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . 0.011 . . rs200316029 rs200316029 1 1538 10 1/0 0,197,255 +rs201303001 5 795954 C G - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795954 795954 Chr5(GRCh37):g.795954C>G *749 *749 NM_024786.2:c.*749G>C p.? p.? 13 742 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs201303001 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.008 0.044 229 PASS . . . . . . . . . . . . . . . . 0.23904383 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.086 . @ . . . . . 2 0.034 . . 251.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.6404 -0.876 -0.640 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.132 @ . . . 0.41 0.63 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*749G>C uc011cma.1:c.*749G>C NM_024786:c.*749G>C 0.000 0.050 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.359 . . 0.361 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.116 . . . HET 0.09 rs201303001 0.043 0.029 . . . . . . . . . . IV.59 . ENST00000436502 1.VII -0.0282 . 0.040000 . . . . . . 0.101 . . . . . . . . . . . . . . . . . . . . . . 0.037 . 0.423 0.423000 . . 0.040000 . . 1.0E-229 0.000 0.063 . 0.062 0.424 . 0.110 . 0.260 0.423 -0.226 0.043 . . rs201303001 rs201303001 1 1538 10 1/0 0,199,255 +rs1057009 5 795961 A G - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795961 795961 Chr5(GRCh37):g.795961A>G *742 *742 NM_024786.2:c.*742T>C p.? p.? 13 735 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs1057009 yes no Frequency 1 G 0.000000 0 0.000803 0.000507 0.000000 0.000000 0.000000 0.000000 0.000989 0.001756 0.000000 0.001756 17 3 0 0 0 0 10 4 0 21170 5918 630 206 1358 0 10114 2278 666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 3 0 0 0 0 10 4 0 0 0 0 0 0 0 0 0 0 RF 70 Genomes transition T C T>C 0.008 1.174 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.091 . @ . . . . . 2 0.031 . . 237.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.4887 0.031 -0.489 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.127 @ . . . 0.4 0.64 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*742T>C uc011cma.1:c.*742T>C NM_024786:c.*742T>C 0.000 0.062 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.182 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.175 . . . HET . rs1057009 0.098 0.065 . . . . . . . . . . . . . . . . . . . . . . . 0.011 . . . . . . . . . . . . 0.0005 0.0008 0 0 0 0.0018 0.0010 0 . . 0.037 . . . . . . . . 1.0E-255 0.000 0.063 . 0.016 0.482 . 0.008 . 0.004 . -0.168 0.098 rs1057009 rs1057009 rs1057009 rs1057009 1 1538 10 1/0 0,217,250 +rs72503655 5 795968 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795968 795968 Chr5(GRCh37):g.795968C>T *735 *735 NM_024786.2:c.*735G>A p.? p.? 13 728 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 New Acceptor Site 795966 1.1243 0.002506 63.1592 rs72503655 yes no Frequency 1 C 0.000000 0 0.000049 0.000233 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000233 1 1 0 0 0 0 0 0 0 20234 4290 456 202 782 0 11128 2668 708 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 72 Genomes transition G A G>A 0.240 2.546 255 PASS . . . . . . . . . . . . . . . . 0.31558937 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.119 . @ . . . . . 2 0.087 . . 263.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.8416 -1.038 -0.842 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.193 @ . . . 0.4 0.64 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*735G>A uc011cma.1:c.*735G>A NM_024786:c.*735G>A 0.009 0.118 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.530 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.294 . . . HET 0.72 rs72503655 0.076 0.051 . . . . . . . . . . 8.0127 . ENST00000436502 1.VII 1.VII . 1.000000 . . . . . . 0.095 . . . . . . . . . . . . 0.0002 4.942e-05 0 0 0 0 0 0 . . 0.037 . 0.423 0.423000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.074 0.425 . 0.122 . 0.029 0.423 0.567 0.076 . rs72503655 rs72503655 rs72503655 1 1538 10 1/0 0,211,250 +rs447313 5 795975 G C - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795975 795975 Chr5(GRCh37):g.795975G>C *728 *728 NM_024786.2:c.*728C>G p.? p.? 13 721 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs447313 yes no Frequency/1000G 2 C 0.000000 0 0.000564 0.000151 0.000000 0.000000 0.000000 0.000000 0.000918 0.000899 0.000000 0.000918 12 1 0 0 0 0 9 2 0 21294 6608 628 192 1194 0 9804 2224 644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 1 0 0 0 0 9 2 0 0 0 0 0 0 0 0 0 0 RF 64 Genomes transversion C G C>G 0.390 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.3670412 . . @ 98 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 267.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -1.1354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.5 0.61 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*728C>G uc011cma.1:c.*728C>G NM_024786:c.*728C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.49 rs447313 0.098 0.065 . . . . . . . . . . II.79 . ENST00000436502 1.VII -0.0282 . 1.000000 . . . . . . . . . . . . . . . . . . . 0.0002 0.0006 0 0 0 0.0009 0.0009 0 . . . . -0.479 -0.479000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.479 . 0.098 rs447313 rs447313 rs447313 rs447313 1 1538 10 1/0 0,214,241 +. 5 795984 GAA G - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 deletion 3'UTR GRCh37 795985 795986 Chr5(GRCh37):g.795985_795986del *717 *718 NM_024786.2:c.*717_*718del p.? p.? 13 710 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs35267903 yes no Frequency/1000G 2 0.000000 0 0.000400 0.001067 0.000000 0.000000 0.000000 0.000000 0.000352 0.000000 0.000000 0.001067 8 4 0 0 0 0 4 0 0 20020 3750 490 232 762 0 11348 2722 716 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 4 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 70 Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.228 . . . 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 250 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*718_*717delTT uc011cma.1:c.*718_*717delTT NM_024786:c.*718_*717delTT . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35267903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0004 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35267903 rs35267903 rs35267903 rs35267903 1 1538 10 1.I 0,8,64 +rs879033328 5 795991 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795991 795991 Chr5(GRCh37):g.795991C>T *712 *712 NM_024786.2:c.*712G>A p.? p.? 13 705 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs879033328 no no 0 C 0.000000 0 0.000350 0.001328 0.000000 0.000000 0.000000 0.000000 0.000176 0.000000 0.000000 0.001328 7 5 0 0 0 0 2 0 0 20006 3766 480 234 790 0 11336 2708 692 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 5 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 71 Genomes transition G A G>A 0.024 2.546 199 PASS . . . . . . . . . . . . . . . . 0.17760618 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 259.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.1435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*712G>A uc011cma.1:c.*712G>A NM_024786:c.*712G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,192,255 +rs1057005 5 795992 C A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 795992 795992 Chr5(GRCh37):g.795992C>A *711 *711 NM_024786.2:c.*711G>T p.? p.? 13 704 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs1057005 no no 0 A 0.000000 0 0.000433 0.001111 0.000000 0.000000 0.000000 0.000000 0.000255 0.000000 0.000000 0.001111 7 5 0 0 0 0 2 0 0 16170 4500 480 176 1172 0 7858 1496 488 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 5 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 88 Genomes transversion G T G>T 0.000 -3.346 221 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.052 . @ . . . . . 2 0.011 . . 266.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -1.9667 -2.212 -1.967 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.067 @ . . . 0.36 0.63 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*711G>T uc011cma.1:c.*711G>T NM_024786:c.*711G>T 0.303 0.192 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.215 . . 0.131 . . . . 0.199 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.001 . . . HET 0.31 rs1057005 . . . . . . . . . . . . 0.1197 . ENST00000436502 1.VII -2.15 . 0.220000 . . . . . . 0.013 . . . . . . . . . . . . 0.0011 0.0004 0 0 0 0 0.0003 0 . . 0.037 . -3.162 -3.162000 . . 0.220000 . . 1.0E-221 0.000 0.063 . 0.016 0.006 . 0.001 . 0.001 -3.162 -3.190 . rs1057005 rs1057005 rs1057005 rs1057005 1 1538 10 1/0 0,194,255 +rs1057004 5 796008 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796008 796008 Chr5(GRCh37):g.796008G>A *695 *695 NM_024786.2:c.*695C>T p.? p.? 13 688 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs1057004 yes no Frequency 1 G 0.000000 0 0.000307 0.000851 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000851 3 3 0 0 0 0 0 0 0 9766 3526 334 94 810 0 3962 772 268 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 149 Genomes transition C T C>T 0.016 -2.297 200 PASS . . . . . . . . . . . . . . . . 0.16722408 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.042 . @ . . . . . 2 0.022 . . 299.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -1.7121 -1.933 -1.712 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.069 @ . . . 0.37 0.59 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*695C>T uc011cma.1:c.*695C>T NM_024786:c.*695C>T 0.006 0.111 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.099 . . 0.239 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.015 . . . HET 0.35 rs1057004 . . . . . . . . . . . . 1.0461 . ENST00000436502 1.II -2.03 . 0.890000 . . . . . . 0.015 . . . . . . . . . . . . 0.0009 0.0003 0 0 0 0 0 0 . . 0.037 . -2.248 -2.248000 . . 0.890000 . . 1.0E-200 0.000 0.063 . 0.016 0.040 . 0.002 . 0.000 -2.248 -0.617 . . . rs1057004 rs1057004 1 1538 10 1/0 0,191,255 +rs201657519 5 796009 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796009 796009 Chr5(GRCh37):g.796009G>A *694 *694 NM_024786.2:c.*694C>T p.? p.? 13 687 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs201657519 yes no Frequency 1 G 0.000000 0 0.000227 0.000561 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000561 3 3 0 0 0 0 0 0 0 13196 5348 388 128 1046 0 5032 902 352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 109 Genomes transition C T C>T 0.039 -0.440 200 PASS . . . . . . . . . . . . . . . . 0.15719064 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 299.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.3801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.38 0.59 182 ENSG00000188818 ZDHHC11 ZDHHC11 ENST00000283441:c.*694C>T uc011cma.1:c.*694C>T NM_024786:c.*694C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201657519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs201657519 rs201657519 1 1538 10 1/0 0,185,255 +rs199505907 5 796015 A C - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796015 796015 Chr5(GRCh37):g.796015A>C *688 *688 NM_024786.2:c.*688T>G p.? p.? 13 681 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs199505907 yes no Frequency 1 A 0.000000 0 0.000200 0.000670 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 0.000000 0.000670 5 4 0 0 0 0 1 0 0 25048 5968 738 262 1380 0 12766 3104 830 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 58 Genomes transversion T G T>G 0.240 -0.037 201 PASS . . . . . . . . . . . . . . . . 0.16065574 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.072 . @ . . . . . 2 0.041 . . 305.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.6106 -0.824 -0.611 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.193 @ . . . 0.5 0.73 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*688T>G NM_024786:c.*688T>G 0.000 0.052 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.516 . . 0.475 . . . . 0.422 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.068 . . . HET 0.35 rs199505907 0.011 0.007 . . . . . . . . . . III.74 . ENST00000436502 1.VII 1.VII . 0.130000 . . . . . . 0.125 . . . . . . . . . . . . 0.0007 0.0002 0 0 0 0 7.833e-05 0 . . 0.037 . 0.358 0.358000 . . 0.130000 . . 1.0E-201 0.000 0.063 . 0.062 0.070 . 0.033 . 0.037 0.358 0.679 0.011 . . rs199505907 rs199505907 1 1538 10 1/0 0,184,255 +. 5 796029 T TGG - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 insertion 3'UTR GRCh37 796029 796030 Chr5(GRCh37):g.796029_796030insGG *673 *674 NM_024786.2:c.*673_*674insCC p.? p.? 13 666 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs34375069 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000669 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000669 4 4 0 0 0 0 0 0 0 19976 5976 502 206 816 0 9582 2284 610 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 75 Genomes CC 255 Pass . . . . . . . . . . . . . . . . 0.16413374 . . . 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 329 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*673_*674insCC NM_024786:c.*673_*674insCC . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34375069 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs34375069 rs34375069 1 1538 10 1.I 0,6,78 +rs144777213 5 796041 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796041 796041 Chr5(GRCh37):g.796041C>T *662 *662 NM_024786.2:c.*662G>A p.? p.? 13 655 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs144777213 no no 0 C 0.000000 0 0.001805 0.001861 0.002825 0.000000 0.002155 0.000000 0.001670 0.000977 0.003521 0.002825 21 10 1 0 2 0 6 1 1 11632 5374 354 76 928 0 3592 1024 284 0.047619 0.100000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 19 8 1 0 2 0 6 1 1 0 0 0 0 0 0 0 0 0 RF 128 Genomes transition G A G>A 0.000 -0.360 187 PASS . . . . . . . . . . . . . . . . 0.1469534 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.091 . @ . . . . . 2 0.026 . . 279.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.3273 0.066 -0.327 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.108 @ . . . 0.46 0.73 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*662G>A NM_024786:c.*662G>A 0.000 0.052 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.198 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.114 . . . LowAF . rs144777213 0.087 0.094 . . . . . . . . . . . . . . . . . . . . . . . 0.031 . . . . . . . . . . . . 0.0019 0.0018 0.0028 0 0.0022 0.0010 0.0017 0.0035 . . 0.023 . . . . . . . . 1.0E-187 0.000 0.063 . 0.090 0.022 . 0.086 . 0.266 . 0.567 0.087 . . rs144777213 rs144777213 1 1538 10 1/0 0,187,255 +rs62330166 5 796051 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796051 796051 Chr5(GRCh37):g.796051G>A *652 *652 NM_024786.2:c.*652C>T p.? p.? 13 645 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs62330166 no no 0 G 0.000000 0 0.001716 0.001236 0.002604 0.000000 0.001988 0.000000 0.002237 0.000984 0.006849 0.002604 22 8 1 0 2 0 8 1 2 12820 6472 384 74 1006 0 3576 1016 292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 8 1 0 2 0 8 1 2 0 0 0 0 0 0 0 0 0 RF 114 Genomes transition C T C>T 0.016 1.093 182 PASS . . . . . . . . . . . . . . . . 0.116883114 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.077 . @ . . . . . 2 0.019 . . 308.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.3390 0.064 -0.339 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.108 @ . . . 0.49 0.68 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*652C>T NM_024786:c.*652C>T 0.000 0.061 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.182 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.169 . . . LowAF . rs62330166 0.098 0.130 . . . . . . . . . . . . . . . . . . . . . . . 0.059 . . . . . . . . . . . . 0.0012 0.0017 0.0026 0 0.0020 0.0010 0.0022 0.0068 . . 0.016 . . . . . . . . 1.0E-182 0.000 0.063 . 0.111 0.056 . 0.020 . 0.267 . 0.589 0.098 rs62330166 rs62330166 rs62330166 rs62330166 1 1538 10 1/0 0,179,255 +. 5 796053 GCT G - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 deletion 3'UTR GRCh37 796054 796055 Chr5(GRCh37):g.796054_796055del *648 *649 NM_024786.2:c.*648_*649del p.? p.? 13 641 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs370809767 no no 0 0.000000 0 0.001713 0.001059 0.002660 0.000000 0.001984 0.000000 0.002588 0.000994 0.006944 0.002660 22 7 1 0 2 0 9 1 2 12840 6608 376 76 1008 0 3478 1006 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 7 1 0 2 0 9 1 2 0 0 0 0 0 0 0 0 0 RF 113 Genomes AG 255 Pass . . . . . . . . . . . . . . . . 0.13087249 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 298 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*649_*648delAG NM_024786:c.*649_*648delAG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs370809767 0.098 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0017 0.0027 0 0.0020 0.0010 0.0026 0.0069 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 . . rs370809767 rs370809767 1 1538 10 1.I 0,5,88 +rs62330167 5 796064 T C - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796064 796064 Chr5(GRCh37):g.796064T>C *639 *639 NM_024786.2:c.*639A>G p.? p.? 13 632 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs62330167 yes no Frequency/1000G 2 C 0.000000 0 0.001305 0.001050 0.001832 0.000000 0.002387 0.000000 0.001605 0.000361 0.001393 0.002387 30 7 1 0 2 0 18 1 1 22982 6664 546 234 838 0 11214 2768 718 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 4 1 0 2 0 14 1 0 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition A G A>G 0.193 -1.247 190 PASS . . . . . . . . . . . . . . . . 0.1335505 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.045 . @ . . . . . 2 0.024 . . 307.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.5317 0.036 -0.532 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.067 @ . . . 0.52 0.72 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*639A>G NM_024786:c.*639A>G 0.000 0.071 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.230 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.158 . . . LowAF . rs62330167 0.120 0.145 . . . . . . . . . . . . . . . . . . . . . . . 0.027 . . . . . . . . . . . . 0.0011 0.0013 0.0018 0 0.0024 0.0004 0.0016 0.0014 . . 0.023 . . . . . . . . 1.0E-190 0.000 0.063 . 0.062 0.007 . 0.010 . 0.012 . -1.111 0.12 rs62330167 rs62330167 rs62330167 rs62330167 1 1538 10 1/0 0,181,255 +rs201375117 5 796144 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796144 796144 Chr5(GRCh37):g.796144C>T *559 *559 NM_024786.2:c.*559G>A p.? p.? 13 552 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs201375117 yes no Frequency 1 C 0.000000 0 0.000633 0.000484 0.000000 0.000000 0.000000 0.000000 0.000575 0.002342 0.000000 0.002342 6 1 0 0 0 0 3 2 0 9480 2066 266 158 574 0 5220 854 342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 RF 182 Genomes transition G A G>A 0.000 -1.247 183 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 294.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.5818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.52 0.8 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*559G>A NM_024786:c.*559G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201375117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0 0 0 0.0023 0.0006 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs201375117 rs201375117 1 1538 10 1/0 0,181,255 +rs71587128 5 796152 T C - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796152 796152 Chr5(GRCh37):g.796152T>C *551 *551 NM_024786.2:c.*551A>G p.? p.? 13 544 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs71587128 yes no Frequency 1 T 0.000000 0 0.000204 0.000495 0.000000 0.000000 0.000000 0.000000 0.000181 0.000000 0.000000 0.000495 2 1 0 0 0 0 1 0 0 9780 2020 262 160 596 0 5514 864 364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 183 Genomes transition A G A>G 0.031 0.690 176 PASS . . . . . . . . . . . . . . . . 0.10404624 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.064 . @ . . . . . 2 0.066 . . 346.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -1.0719 -1.310 -1.072 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.084 @ . . . 0.55 0.76 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*551A>G NM_024786:c.*551A>G 0.000 0.057 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.222 . . 0.283 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.118 . . . LowAF 0.31 rs71587128 . . . . . . . . . . . . IV.42 . ENST00000436502 1.VII -1.42 . 0.360000 . . . . . . 0.046 . . . . . . . . . . . . 0.0005 0.0002 0 0 0 0 0.0002 0 . . 0.037 . -0.505 -0.505000 . . 0.360000 . . 1.0E-176 0.000 0.063 . 0.016 0.025 . 0.008 . 0.001 -0.505 0.643 . . . rs71587128 rs71587128 1 1538 10 1/0 0,173,255 +rs202009112 5 796156 G A - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796156 796156 Chr5(GRCh37):g.796156G>A *547 *547 NM_024786.2:c.*547C>T p.? p.? 13 540 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs202009112 yes no Frequency 1 G 0.000000 0 0.000210 0.000514 0.000000 0.000000 0.000000 0.000000 0.000186 0.000000 0.000000 0.000514 2 1 0 0 0 0 1 0 0 9512 1946 264 160 586 0 5362 834 360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 190 Genomes transition C T C>T 0.008 2.546 175 PASS . . . . . . . . . . . . . . . . 0.10364146 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 357.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.1366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.56 0.77 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*547C>T NM_024786:c.*547C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs202009112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs202009112 rs202009112 1 1538 10 1/0 0,171,255 +rs200976854 5 796165 C T - ZDHHC11 19158 Zinc finger, DHHC-type containing 11 NM_024786.2 -1 2606 1239 NP_079062.1 Q9H8X9 substitution 3'UTR GRCh37 796165 796165 Chr5(GRCh37):g.796165C>T *538 *538 NM_024786.2:c.*538G>A p.? p.? 13 531 3' 95.5582 11.0546 0.960539 7.84158 95.5582 11.0546 0.960539 7.84158 0 rs200976854 yes no Frequency 1 C 0.000000 0 0.004958 0.004249 0.000000 0.000000 0.000000 0.000000 0.005857 0.005571 0.006211 0.005857 39 6 0 0 0 0 27 4 2 7866 1412 236 142 426 0 4610 718 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 6 0 0 0 0 27 4 2 0 0 0 0 0 0 0 0 0 RF 236 Genomes transition G A G>A 0.000 -1.328 211 PASS . . . . . . . . . . . . . . . . 0.18709677 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 310.0 . . UTR_3_PRIME(MODIFIER||||ZDHHC11|mRNA|CODING|NM_024786|NM_024786.ex.13) . . . . . . . -0.6038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.45 0.78 182 ENSG00000188818 ZDHHC11 ZDHHC11 . uc011cma.1:c.*538G>A NM_024786:c.*538G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200976854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0042 0.0050 0 0 0 0.0056 0.0059 0.0062 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . rs200976854 rs200976854 1 1538 10 1/0 0,185,255 +rs74389817 5 1081230 A G - SLC12A7 10915 Solute carrier family 12 (potassium/chloride transporters), member 7 NM_006598.2 -1 5304 3252 NP_006589.2 Q9Y666 substitution intron GRCh37 1081230 1081230 Chr5(GRCh37):g.1081230A>G 1297+462 1297+462 NM_006598.2:c.1297+462T>C p.? p.? 9 9 604879 462 5' 80.9448 8.68617 0.985538 X.13 80.9448 8.68617 0.985538 X.13 0 rs74389817 no no 0 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30732 8608 834 302 1616 0 14910 3488 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition T C T>C 0.000 -0.279 111 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||SLC12A7|mRNA|CODING|NM_006598|) . . . . . . . -0.4015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.13 0.01 182 ENSG00000113504 SLC12A7 SLC12A7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74389817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.254e-05 0 0 0 0 6.707e-05 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs74389817 rs74389817 1 1538 10 1.I 70,1,0 +rs374958460 5 1574476 G A - SDHAP3 18781 Succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 NR_003263.2 -1 1153 0 substitution intron GRCh37 1574476 1574476 Chr5(GRCh37):g.1574476G>A 710-66 710-66 NR_003263.2:n.710-66C>T p.? p.? 6 5 -66 3' 85.8859 8.32753 0.894992 4.73672 85.8859 8.32753 0.894992 4.74804 0 rs374958460 no no 0 A 0.000000 0 0.008197 0.025911 0.008499 0.007576 0.000000 0.000000 0.003637 0.001231 0.006928 0.025911 213 145 6 2 0 0 50 4 6 25986 5596 706 264 1558 0 13746 3250 866 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 213 145 6 2 0 0 50 4 6 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.732 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.10714286 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||SDHAP3|Non-coding_transcript|NON_CODING|NR_003263|) . . . . . . . -0.6562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.26 0.02 182 ENSG00000185986 SDHAP3 SDHAP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs374958460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0259 0.0082 0.0085 0.0076 0 0.0012 0.0036 0.0069 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs387134 rs387134 rs387134 rs374958460 1 1538 10 1/0 0,251,255 +rs113180271 5 6751208 G A - PAPD7 16705 PAP associated domain containing 7 NM_006999.4 1 3861 1629 NP_008930.1 substitution synonymous exon GRCh37 6751208 6751208 Chr5(GRCh37):g.6751208G>A 1167 1167 NM_006999.4:c.1167G>A p.Ala389= p.Ala389Ala 11 605198 57 3' 66.0007 4.88017 0.015681 0 66.0007 4.88017 0.015681 0 0 rs113180271 yes no Frequency/1000G 2 G 0.000000 0 0.005591 0.000000 0.007200 0.002000 0.011900 0.010100 0.007857 0.001582 0.003690 0.018223 0.001113 0.007797 0.009415 0.012678 0.007269 0.018223 2178 38 127 185 21 240 1193 327 47 277222 24024 34420 10152 18870 30782 126716 25792 6466 0.000130 0.000000 0.000000 0.000000 0.000000 0.000520 0.000110 0.000233 0.000000 18 0 0 0 0 8 7 3 0 2142 38 127 185 21 224 1179 321 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8521 4398 12919 79 8 87 0.00918605 0.00181571 0.00668922 0.00918605 0.00181571 0.00668922 133 transition G A G>A 0.016 -3.426 A Ala GCG 0.107 A Ala GCA 0.226 389 255 PASS . 0.01 0.01 0.0017 0.01 . 0.0056 0.01 0.002 0.012 0.0072 ENSG00000112941:ENST00000230859:exon11:c.G1167A:p.A389A . . . . 0.45081967 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . 0.0018 0.0067 0.0092 0.0018 0.0067 0.0092 . -0.4612 . . . . . . . . 7.766e-03 . . . 0.0016 0.0071 0.0036 0.0009 0.0124 0.0096 0.0042 0.0077 0.0014 0.0076 0.0033 0.0013 0.0119 0.0099 0.0072 0.0079 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0056 . . . 0.25 0.18 182 ENSG00000112941 PAPD7 PAPD7 . . . . . . 609 0.00937269 64976 582 0.00970226 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113180271 . . . . . . . . . . . . . . . . . . . . . . . 0.006689 . . . . . 0.0016 0.0081 0.0038 0.0184 0.0012 0.0128 0.0097 0.0077 0.0078 0.0016 0.0056 0.0012 0.0132 0.0006 0.0117 0.0072 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs113180271 rs113180271 1 1538 10 1/0 0,249,255 +rs115387436 5 7885794 T C - MTRR 7473 5-methyltetrahydrofolate-homocysteine methyltransferase reductase NM_024010.2 1 3274 2178 NP_076915.2 Q9UBK8 substitution intron GRCh37 7885794 7885794 Chr5(GRCh37):g.7885794T>C 985-20 985-20 NM_024010.2:c.985-20T>C p.? p.? 7 6 602568 -20 3' 79.4601 7.82435 0.903786 5.88173 79.4601 7.66642 0.855427 5.53206 -0.0245635 7885796 -24.7594 rs115387436 yes no Frequency/1000G 2 T 0.000000 0 0.000129 0.000086 0.000061 0.000208 0.000000 0.000035 0.000209 0.000081 0.000000 0.000209 34 2 2 2 0 1 25 2 0 263070 23208 32934 9616 18380 28706 119622 24566 6038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 0 0 0 0 8 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.102 0.690 175 PASS 0.07 0.05 0.04 . 0.07 . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . 0.3142 . . . . . . . . 8.683e-05 . . . 0 4.47e-05 0 0 0 9.654e-05 0 0 0 4.77e-05 0 0 0 9.348e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.04 182 ENSG00000124275 MTRR MTRR . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs115387436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.II 0.0001 0.0001 6.228e-05 0.0002 0 0 0.0002 0 3.484e-05 0 0.0002 0 0 0 0.0007 0.0004 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.07 . . rs115387436 rs115387436 1 1538 10 1/0 0,255,255 +rs6555597 5 9280957 C A - SEMA5A 10736 Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A NM_003966.2 -1 11808 3225 NP_003957.2 Q13591 substitution intron GRCh37 9280957 9280957 Chr5(GRCh37):g.9280957C>A 270+37527 270+37527 NM_003966.2:c.270+37527G>T p.? p.? 5 5 609297 37527 5' 89.9194 X.02 0.991756 I.77 89.9194 X.02 0.991756 I.77 0 rs6555597 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999985 0.999928 1.000000 1.000000 1.000000 1.000000 0.999982 1.000000 1.000000 1.000000 136428 13933 18928 7168 10166 18764 55215 8286 3968 136430 13934 18928 7168 10166 18764 55216 8286 3968 0.999971 0.999856 1.000000 1.000000 1.000000 1.000000 0.999964 1.000000 1.000000 68213 6966 9464 3584 5083 9382 27607 4143 1984 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 -0.521 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||SEMA5A|mRNA|CODING|NM_003966|) . . . . . . . -0.3078 . . . . . . . . 1.000 . . . 1 1 1 1 . 1 1 1 1 1 1 1 . 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.31 0.19 182 ENSG00000112902 SEMA5A SEMA5A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs6555597 0.978 0.986 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs6555597 rs6555597 rs6555597 rs6555597 1 1538 255 1.I 0,0,255 +. 5 10263451 TGGAG T - CCT5 1618 Chaperonin containing TCP1, subunit 5 (epsilon) NM_012073.4 1 3675 1626 NP_036205.1 P48643 deletion intron GRCh37 10263454 10263457 Chr5(GRCh37):g.10263454_10263457del 1498+28 1498+31 NM_012073.4:c.1498+28_1498+31del p.? p.? 10 10 610150 28 5' 81.8011 7.61415 0.98266 5.30055 81.8011 7.61415 0.98266 5.36855 0 rs200292677 yes no Frequency 1 0.000000 0 0.000407 0.001963 0.000154 0.000000 0.000879 0.000439 0.000253 0.000818 0.000000 0.001963 15 3 1 0 2 5 3 1 0 36882 1528 6506 1206 2276 11394 11866 1222 884 0.200000 0.000000 0.000000 0.000000 0.500000 0.200000 0.333333 0.000000 0.000000 3 0 0 0 1 1 1 0 0 3 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 RF 191 Exomes AGGG 255 Pass . . . . . . . . . . . . . . . . 0.96202534 . . . 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . . . . . . . . . . . . . . . . . . 6.596e-04 . . . 0.0061 0.0006 0.0035 0 0 0.0004 0 0.0002 0.0093 0.0008 0.0037 0 0 0.0011 0 0.0002 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000150753 CCT5 CCT5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs200292677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0004 0.0002 0 0.0009 0.0008 0.0003 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200292677 rs200292677 1 1538 255 1.I 0,0,255 +rs113061039 5 10263460 G A - CCT5 1618 Chaperonin containing TCP1, subunit 5 (epsilon) NM_012073.4 1 3675 1626 NP_036205.1 P48643 substitution intron GRCh37 10263460 10263460 Chr5(GRCh37):g.10263460G>A 1498+34 1498+34 NM_012073.4:c.1498+34G>A p.? p.? 10 10 610150 34 5' 81.8011 7.61415 0.98266 5.30055 81.8011 7.61415 0.98266 IV.82 0 rs113061039 yes no Frequency 1 0.000000 0 0.000954 0.001195 0.000300 0.001416 0.001657 0.000570 0.001499 0.000587 0.000000 0.001657 38 5 2 2 3 6 19 1 0 39822 4184 6672 1412 1810 10526 12676 1704 838 0.184211 0.000000 0.000000 0.500000 0.333333 0.166667 0.210526 0.000000 0.000000 7 0 0 1 1 1 4 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 155 Exomes transition G A G>A 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.974359 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.4427 . . . . . . . . . . . . 0.0006 0.0004 0.0010 0 0 0.0002 0 0.0003 0.0008 0.0005 0.0010 0 0 0.0005 0 0.0003 . . . . . . intronic intronic intronic . . . @ . . . 0.17 0.18 182 ENSG00000150753 CCT5 CCT5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs113061039 0.576 0.681 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0010 0.0003 0.0014 0.0017 0.0006 0.0015 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.58 . . rs113061039 rs113061039 1 1538 255 1.I 0,0,255 +rs141492551 5 14405920 C T - TRIO 12303 Trio Rho guanine nucleotide exchange factor NM_007118.3 1 11100 9294 NP_009049.2 O75962 substitution intron GRCh37 14405920 14405920 Chr5(GRCh37):g.14405920C>T 4717-37 4717-37 NM_007118.3:c.4717-37C>T p.? p.? 32 31 601893 -37 3' 67.5215 I.94 0.012215 0 67.5215 I.94 0.012215 0 0 rs141492551 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000829 0.000376 0.000350 0.001197 0.000000 0.000229 0.001436 0.000000 0.001244 0.001436 228 9 12 12 0 7 180 0 8 275092 23966 34272 10026 18844 30516 125318 25720 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 228 9 12 12 0 7 180 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4404 12990 14 2 16 0.00162791 0.000453926 0.0012302 0.00162791 0.000453926 0.0012302 40 transition C T C>T 0.000 -0.602 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.5104167 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . INTRON(MODIFIER||||TRIO|mRNA|CODING|NM_007118|) 0.0005 0.0012 0.0016 0.0005 0.0012 0.0016 . 0.2304 . . . . . . . . 7.657e-04 . . . 0.0005 0.0008 0.0003 0 0 0.0015 0.0014 0.0003 0.0004 0.0007 0.0003 0 0 0.0011 0.0015 0.0003 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.31 0.29 182 ENSG00000038382 TRIO TRIO . . . . . . 45 0.000692563 64976 43 0.000716834 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141492551 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830210 0.001230 . . . . . 0.0005 0.0008 0.0004 0.0012 0 0 0.0015 0.0013 0.0002 0.0002 0.0007 0 0 0 0 0.0013 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0016 . . rs141492551 rs141492551 1 1538 10 1/0 0,255,255 +rs181585790 5 23509281 C A - PRDM9 13994 PR/SET domain 9 NM_001310214.1 1 3138 2685 NP_001297143.1 Q9NQV7 substitution intron GRCh37 23509281 23509281 Chr5(GRCh37):g.23509281C>A 69+70 69+70 NM_001310214.1:c.69+70C>A p.? p.? 2 2 609760 70 5' 81.491 7.22671 0.943942 8.90096 81.491 7.22671 0.943942 8.79451 0 rs181585790 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.001000 0.001400 0.001260 0.000458 0.000000 0.000000 0.000000 0.000000 0.001935 0.001717 0.000000 0.001935 39 4 0 0 0 0 29 6 0 30958 8732 838 302 1620 0 14990 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 4 0 0 0 0 29 6 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.016 0.044 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0014 . 0.001 0.001 . . . . . 0.4370861 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.41 0.16 182 ENSG00000164256 PRDM9 PRDM9 . . . . . . 98 0.00150825 64976 95 0.0015837 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181585790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0013 0 0 0 0.0017 0.0019 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs181585790 rs181585790 1 1538 10 1/0 0,239,255 +rs61748193 5 32255878 G A - MTMR12 18191 Myotubularin related protein 12 NM_001040446.2 -1 5185 2244 NP_001035536.1 Q9C0I1 substitution splice site GRCh37 32255878 32255878 Chr5(GRCh37):g.32255878G>A 714-4 714-4 NM_001040446.2:c.714-4C>T p.? p.? 8 7 606501 -4 3' 88.6255 X.62 0.993988 8.75341 88.6255 11.0171 0.994622 8.66085 0.0256404 rs61748193 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008000 0.002900 0.006841 0.001187 0.001997 0.004058 0.000000 0.000344 0.011341 0.009848 0.006975 0.011341 1848 28 66 40 0 10 1409 251 44 270154 23586 33042 9858 18584 29048 124240 25488 6308 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000113 0.000078 0.000000 8 0 0 0 0 0 7 1 0 1832 28 66 40 0 10 1395 249 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8503 4397 12900 97 9 106 0.0112791 0.00204267 0.00815008 0.0112791 0.00204267 0.00815008 85 transition C T C>T 0.984 0.044 255 PASS . 0.0027 0.0028 . 0.01 . 0.002 0.0029 . 0.008 . . . . . . 0.48387095 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . 0.002 0.0081 0.011 0.002 0.0082 0.011 . I.43 . . . . . . . . 7.419e-03 . . . 0.0017 0.0057 0.0021 0 0.0134 0.0098 0.0018 0.0005 0.0019 0.0090 0.0018 0 0.0135 0.0149 0.0019 0.0005 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.57 0.26 182 ENSG00000150712 MTMR12 MTMR12 . . . . . . 502 0.00772593 64976 493 0.00821858 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61748193 . . . . . . . . . . . . . . . . . . . . 0.0001 0.008 . 0.008150 . . . . . 0.0011 0.0066 0.0018 0.0040 0 0.0099 0.0111 0.0062 0.0003 0.0014 0.0084 0.0084 0.0067 0 0.0094 0.0129 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs61748193 rs61748193 rs61748193 rs61748193 1 1538 10 1/0 0,255,255 +. 5 32710965 GT G - NPR3 7945 Natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) NM_001204375.1 1 7450 1626 NP_001191304.1 P17342 deletion upstream GRCh37 32710980 32710980 Chr5(GRCh37):g.32710980del -903 -903 NM_001204375.1:c.-903del p.? p.? 1 108962 -1672 5' 86.8044 8.70331 0.989706 XI.71 86.8044 8.70331 0.989706 XI.71 0 rs549379132 yes no Frequency/1000G 2 T 0.000000 0 0.191094 0.199700 0.160500 0.068500 0.298200 0.240600 T 255 Pass . . . . . 0.2 0.19 0.24 0.069 0.3 0.16 . . . . . 0.30882353 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000113389 NPR3 NPR3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs549379132 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1792e1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,51 +rs143654915 5 33643533 G A - ADAMTS12 14605 ADAM metallopeptidase with thrombospondin type 1 motif 12 NM_030955.3 -1 8774 4785 NP_112217.2 P58397 substitution missense exon GRCh37 33643533 33643533 Chr5(GRCh37):g.33643533G>A 1522 1522 NM_030955.3:c.1522C>T p.Arg508Cys p.Arg508Cys 10 606184 43 3' 83.4705 6.02979 0.848959 3.98324 83.4705 6.02979 0.848959 3.06274 0 Cryptic Acceptor Weakly Activated 33643524 4.52683 0.072932 75.1218 3.48912 0.139914 77.8337 rs143654915 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000260 0.000125 0.000174 0.000099 0.000053 0.000065 0.000443 0.000000 0.000464 0.000443 72 3 6 1 1 2 56 0 3 276974 24030 34408 10142 18856 30776 126500 25794 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 70 3 6 1 1 0 56 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4405 13002 3 1 4 0.000348837 0.000226963 0.00030755 0.000348837 0.000226963 0.00030755 148 COSM1244281|COSM1244281 Stomach|Oesophagus 0.001161|0.000710 861|1409 transition C T C>T 1.000 6.097 R Arg CGC 0.190 C Cys TGC 0.552 508 12 10 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 252.53 VI.47 Deleterious 0.01 III.21 255 PASS 0.002 0.0005 . . . 0.0008 0.0002 . . . . . . ADAMTS12:NM_030955:exon10:c.C1522T:p.R508C . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.999 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R508C|ADAMTS12|mRNA|CODING|NM_030955|NM_030955.ex.10) 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . 0.7603 0.709 0.760 c . . . . . 2.920e-04 . . . 0.0002 0.0003 0.0002 0.0002 0 0.0005 0 0 0.0002 0.0003 0.0002 0.0001 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.605 . . exonic exonic exonic . . 0.840 0.0002 . . . 0.32 0.36 182 ENSG00000151388 ADAMTS12 ADAMTS12 . . . 1.0 0.983 . 11 0.000169293 64976 10 0.000166706 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.736 0.081 . . 37 . 0.782 . . 0.773 . . . 0.881 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 0 0.682 . . . . . 0.952 . 0.827 . HET 0.01 rs143654915 . . . . . . ID\x3dCOSM1244281\x3bOCCURENCE\x3d1(oesophagus) 4.578754578754579E-4 0.0020325203252032522 0.0 0.0 0.0 19.5412 0.0 . V.57 V.57 . 0.200000 . . . . 0.000308 . 0.879 . . V.57 0.0001 0.0003 0.0002 0.0001 5.802e-05 0 0.0004 0.0005 6.499e-05 0.0001 0.0003 0 0 0 0 0.0005 0 . . 0.428 . 2.611 2.611000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.848 . 0.713 2.611 0.917 0.002 . . rs143654915 rs143654915 1 1538 10 1/0 0,255,255 +. (chr5:34193377 A/G) 5 34193377 A G Not on a known gene +rs878955788 (chr5:34193414 A/G) 5 34193414 A G Not on a known gene +rs371610339 5 34818948 G C - RAI14 14873 Retinoic acid induced 14 NM_001145525.1 1 5338 2952 NP_001138997.1 substitution missense exon GRCh37 34818948 34818948 Chr5(GRCh37):g.34818948G>C 995 995 NM_001145525.1:c.995G>C p.Ser332Thr p.Ser332Thr 15 606586 -9 5' 94.6711 X.63 0.998885 3.06074 94.6711 X.63 0.998885 3.31801 0 Cryptic Acceptor Strongly Activated 34818957 0.002752 2.21036 0.00987 78.6988 rs371610339 yes no Frequency 1 G 0.000000 0 0.000111 0.000000 0.000000 0.000301 0.000000 0.000000 0.000192 0.000079 0.000159 0.000301 30 0 0 3 0 0 24 2 1 270374 23886 33028 9968 18426 28488 124878 25412 6288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 3 0 0 24 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 127 transversion G C G>C 1.000 3.918 S Ser AGT 0.149 T Thr ACT 0.243 332 10 9 Cow 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C55 0.00 57.75 Deleterious 0 IV.32 bad 2.152E-3 9.72E-5 255 PASS . . . . . . . . . . . . . . . . 0.46153846 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.524 . @ . . . . . 1 0.468 . . 26.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.4540 0.535 0.454 c . . . . . 8.682e-05 . . . 0 3.31e-05 0 0 0 7.13e-05 0 0 0 8.48e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . 0.828 @ . . . 0.49 0.5 182 ENSG00000039560 RAI14 RAI14 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.390 0.017 . . 37 . 0.428 . . 0.141 . . . 0.311 0.402 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.715 . . 0.782 . . . . . . 0 0.144 . . . . . 0.892 . 0.598 . HET 0.21 rs371610339 . . . . . . . . . . . . 18.0301 0.0 . V.54 V.54 . 0.680000 . . . Name\x3dnsv522144 0.000077 . 0.871 . . V.54 0 9.594e-05 0 0.0003 0 4.533e-05 0.0002 0 0 0 0.0002 0 0 0 0.0003 0.0003 0.0010 . . 0.730 . 2.779 2.779000 . . 0.680000 . . 1.0E-255 1.000 0.715 . 0.697 0.981 . 0.732 . 0.613 2.779 0.917 0.0001 . . rs371610339 rs371610339 1 1538 10 1/0 0,255,255 +rs374762144 5 34869033 G A - TTC23L 26355 Tetratricopeptide repeat domain 23 like NM_001317949.1 1 2343 1113 NP_001304878.1 substitution synonymous exon GRCh37 34869033 34869033 Chr5(GRCh37):g.34869033G>A 891 891 NM_001317949.1:c.891G>A p.Leu297= p.Leu297Leu 8 616344 24 3' 98.7131 8.52122 0.961972 8.06693 98.7131 8.52122 0.961972 7.49611 0 rs374762144 yes no Frequency 1 G 0.000000 0 0.000055 0.000000 0.000000 0.000301 0.000000 0.000000 0.000081 0.000078 0.000000 0.000301 15 0 0 3 0 0 10 2 0 270786 23578 33692 9982 18516 29544 123588 25534 6352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 3 0 0 10 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8299 3854 12153 1 0 1 0.000120482 0 8.22774e-05 0.000120482 0 8.22774e-05 57 transition G A G>A 0.575 -0.521 L Leu TTG 0.127 L Leu TTA 0.073 297 255 PASS . . . . . . . . . . . ENSG00000205838:ENST00000505624:exon8:c.G864A:p.L288L TTC23L:uc003jiu.3:exon8:c.G864A:p.L288L TTC23L:NM_144725:exon8:c.G864A:p.L288L . . 0.4864865 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L288|TTC23L|mRNA|CODING|NM_144725|NM_144725.ex.8) . 0.0001 0.0001 . 0.0001 0.0001 . 1.1173 . . . . . . . . 4.799e-05 . . . 0 3.539e-05 0 0 0 7.488e-05 0 0 0 4.774e-05 0 0 0 9.525e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.63 182 ENSG00000205838 TTC23L TTC23L . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374762144 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522144 0.000082 . . . . . 0 5.837e-05 0 0.0003 0 4.536e-05 9.21e-05 0 0 0 3.23e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs374762144 rs374762144 1 1538 10 1/0 0,255,255 +rs114609505 5 41195939 G A - C6 1339 Complement component 6 NM_000065.3 -1 3722 2805 NP_000056.2 P13671 substitution missense exon GRCh37 41195939 41195939 Chr5(GRCh37):g.41195939G>A 542 542 NM_000065.3:c.542C>T p.Thr181Ile p.Thr181Ile 5 217050 -46 5' 76.7375 7.43136 0.971786 2.16918 76.7375 7.43136 0.971786 1.78874 0 rs114609505 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008000 0.001400 0.006191 0.000957 0.001047 0.000887 0.000000 0.000000 0.009305 0.016804 0.005576 0.016804 1715 23 36 9 0 0 1178 433 36 277010 24030 34396 10148 18842 30776 126594 25768 6456 0.000079 0.000000 0.000000 0.000000 0.000000 0.000000 0.000126 0.000155 0.000310 11 0 0 0 0 0 8 2 1 1693 23 36 9 0 0 1162 429 34 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4401 12932 69 5 74 0.00802326 0.00113482 0.00568968 0.00802326 0.00113482 0.00568968 270 RCV000425292.1 germline clinical testing Likely benign 1 not provided COSM6470388 Lung 0.000402 2489 transition C T C>T 0.000 0.286 T Thr ACA 0.280 I Ile ATA 0.163 181 17 3 Mouse -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.15 III.33 255 PASS . 0.0037 0.0028 . 0.01 . 0.0018 0.0014 . 0.008 . . . . . . 0.5147059 . . @ 35 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.128 . @ . . . . . 1 0.244 . . 68.0 . . . 0.0011 0.0057 0.008 0.0011 0.0057 0.008 . -0.7888 -0.770 -0.789 c . . . . . 6.898e-03 . . . 0.0010 0.0038 0.0010 0 0.015 0.0062 0.0042 0 0.0008 0.0068 0.0010 0 0.0147 0.0112 0.0029 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.611 . . exonic exonic exonic . . 0.303 0.0018 . . . 0.37 0.37 182 ENSG00000039537 C6 C6 . . . 0.000 0.072 . 502 0.00772593 64976 493 0.00821858 59986 Likely_benign . 0 . 0.011 . . . . . . . . . 37 . 0.353 . . 0.276 . . . 0.170 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.404 . . 0 0 0 0 0 0 . 0.090 . . 0.154 . . . . . . 0 0.230 . . . . . 0.065 . 0.022 . HET 0.11 rs114609505 0.022 0.014 . . . . . 0.003663003663003663 0.0 0.0027624309392265192 0.0 0.009234828496042216 III.81 0.00107 . V.65 II.63 . 0.190000 P13671 . . . 0.005690 . 0.137 . . II.63 0.0010 0.0061 0.0010 0.0009 0 0.0162 0.0094 0.0044 0 0.0009 0.0071 0.0012 0 0 0.0206 0.0085 0.0122 . . 0.133 . 1.343 1.343000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.220 . 0.713 1.343 -0.045 0.022 . . rs114609505 rs114609505 1 1538 10 1/0 0,255,255 +rs151191974 5 41912223 C T - C5orf51 27750 Chromosome 5 open reading frame 51 NM_175921.5 1 5246 885 NP_787117.3 A6NDU8 substitution missense exon GRCh37 41912223 41912223 Chr5(GRCh37):g.41912223C>T 539 539 NM_175921.5:c.539C>T p.Pro180Leu p.Pro180Leu 5 53 3' 76.3278 4.23986 0.350776 0 76.3278 4.23986 0.350776 0 0 rs151191974 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000800 0.000000 0.000000 0.005000 0.002900 0.004807 0.000874 0.006527 0.000888 0.000000 0.001463 0.007028 0.003430 0.008367 0.007028 1330 21 224 9 0 45 889 88 54 276692 24020 34320 10134 18860 30754 126492 25658 6454 0.000065 0.000083 0.000000 0.000000 0.000000 0.000260 0.000063 0.000000 0.000000 9 1 0 0 0 4 4 0 0 1312 19 224 9 0 37 881 88 54 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8547 4401 12948 49 5 54 0.00570033 0.00113482 0.00415321 0.00570033 0.00113482 0.00415321 171 transition C T C>T 1.000 4.806 P Pro CCT 0.283 L Leu CTT 0.129 180 12 10 Platypus -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C15 73.35 97.78 Deleterious 0.01 III.56 255 PASS . 0.0027 0.0028 . 0.01 0.0008 0.0016 0.0029 . 0.005 . ENSG00000205765:ENST00000381647:exon5:c.C539T:p.P180L C5orf51:uc003jmo.3:exon5:c.C539T:p.P180L C5orf51:NM_175921:exon5:c.C539T:p.P180L . . 0.47272727 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.939 . @ . . . . . 1 0.951 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P180L|C5orf51|mRNA|CODING|NM_175921|NM_175921.ex.5) 0.0011 0.0042 0.0057 0.0011 0.0042 0.0057 . 0.6342 0.673 0.634 c . . . . . 4.980e-03 . . . 0.0012 0.0045 0.0053 0 0.0045 0.0069 0.0140 0.0010 0.0011 0.0048 0.0054 0 0.0036 0.0073 0.0130 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.834 . . exonic exonic exonic . . 0.934 0.0016 . . . 0.64 0.31 182 ENSG00000205765 C5orf51 C5orf51 . . . 1.000 0.747 . 293 0.00450936 64976 285 0.00475111 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.823 . . 0.855 . . . 0.579 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.951 . . 0 0 0 0 0 0 . 0.764 . . 0.693 . . . . . . 0 0.682 . . . . . 0.902 . 0.841 . HET 0.01 rs151191974 . . . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 18.3385 0.001071 ENST00000381647 V.84 V.84 . 0.000000 A6NDU8 . . . 0.004153 . 0.793 . . V.84 0.0009 0.0048 0.0065 0.0009 0 0.0032 0.0070 0.0086 0.0015 0.0008 0.0046 0.0084 0 0 0.0046 0.0071 0.0071 . . 0.924 . 2.767 2.767000 . . 0.000000 . . 1.0E-255 0.999 0.424 . 0.697 0.998 . 0.529 . 0.362 2.767 0.871 0.01 . . rs151191974 rs151191974 1 1538 10 1/0 0,255,255 +rs367775935 5 52394388 T G - MOCS2 7193 Molybdenum cofactor synthesis 2 NM_004531.4 -1 4181 567 NP_004522.1 O96007 substitution 3'UTR GRCh37 52394388 52394388 Chr5(GRCh37):g.52394388T>G *44 *44 NM_004531.4:c.*44A>C p.? p.? 7 603708 110 3' 92.9953 9.94675 0.976996 6.64134 92.9953 9.94675 0.976996 6.64134 0 rs367775935 yes no Frequency/1000G 2 T uncertain_significance,likely_benign 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001945 0.001083 0.002330 0.000099 0.000000 0.000000 0.003310 0.000078 0.001708 0.003310 538 26 80 1 0 0 418 2 11 276550 24014 34332 10126 18844 30762 126274 25756 6442 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 536 26 80 1 0 0 416 2 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4401 12962 31 5 36 0.00360801 0.00113482 0.00276966 0.00360801 0.00113482 0.00276966 74 RCV000381148.1|RCV000386161.1 germline|germline clinical testing|clinical testing VUS|Likely benign 1|1 Molybdenum cofactor deficiency|Platelet-type bleeding disorder 9 transversion A C A>C 0.000 -0.763 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.54347825 . . germline 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance//\%//\@Likely//\@benign Uncertain_significance|Likely_benign RCV000381148.1|RCV000386161.1 Molybdenum_cofactor_deficiency|Platelet-type_bleeding_disorder_9 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet HP:0003570:CN003223|C3280114:614200:ORPHA98886 3 . . . 46.0 . . . 0.0011 0.0028 0.0036 0.0011 0.0028 0.0036 . -0.0470 . . . . . . . . 2.131e-03 . . . 0.0012 0.0021 0.0018 0 0 0.0037 0.0014 0 0.0010 0.0020 0.0018 0 0 0.0033 0.0015 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.46 0.69 182 ENSG00000164172 MOCS2 MOCS2 . . . . . . 124 0.0019084 64976 123 0.00205048 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367775935 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830296 0.002770 . . . . . 0.0011 0.0019 0.0024 0.0001 0 8.983e-05 0.0033 0.0015 0 0.0010 0.0019 0.0012 0 0 0 0.0031 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0036 . . rs367775935 rs367775935 1 1538 10 1/0 0,255,255 +rs148952293 5 54948538 A G - SLC38A9 26907 Solute carrier family 38 member 9 NM_001349382.1 -1 2805 1686 NP_001336311.1 Q8NBW4 substitution synonymous exon GRCh37 54948538 54948538 Chr5(GRCh37):g.54948538A>G 771 771 NM_001349382.1:c.771T>C p.Ser257= p.Ser257Ser 12 616203 14 3' 87.4606 9.08897 0.613339 10.0857 87.4606 9.08897 0.505487 10.1466 -0.0586147 rs148952293 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.005669 0.000877 0.001609 0.000000 0.000000 0.000263 0.005799 0.027674 0.005171 0.027674 1550 21 54 0 0 8 724 710 33 273430 23948 33564 10012 18636 30380 124852 25656 6382 0.000110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000935 0.000000 15 0 0 0 0 0 3 12 0 1520 21 54 0 0 8 718 686 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4398 12942 56 8 64 0.00651163 0.00181571 0.00492081 0.00651163 0.00181571 0.00492081 64 transition T C T>C 0.906 -0.037 S Ser AGT 0.149 S Ser AGC 0.243 257 255 PASS . 0.0023 0.01 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.4375 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 48.0 . . . 0.0018 0.0049 0.0065 0.0018 0.0049 0.0065 . 1.0517 . . . . . . . . 5.360e-03 . . . 0.0012 0.0039 0.0012 0 0.0319 0.0046 0.0071 0.0002 0.0013 0.0052 0.0013 0 0.0283 0.0061 0.0073 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.28 0.54 182 ENSG00000177058 SLC38A9 SLC38A9 . . . . . . 434 0.00667939 64976 426 0.00710166 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148952293 . . . . . . . . . . . . . . . . . . . . . . . 0.004921 . . . . . 0.0011 0.0055 0.0016 0 0 0.0272 0.0057 0.0048 0.0003 0.0005 0.0072 0.0024 0 0 0.0308 0.0068 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs148952293 rs148952293 1 1538 10 1/0 0,255,255 +rs77017041 5 55407449 A G - ANKRD55 25681 Ankyrin repeat domain 55 NM_024669.2 -1 2500 1845 NP_078945.2 substitution missense exon GRCh37 55407449 55407449 Chr5(GRCh37):g.55407449A>G 1126 1126 NM_024669.2:c.1126T>C p.Ser376Pro p.Ser376Pro 10 615189 161 3' 77.0765 4.84944 0.677377 6.94189 77.0765 4.84944 0.677377 6.94189 0 rs77017041 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.006000 0.004300 0.004646 0.001697 0.000872 0.001453 0.000000 0.001588 0.007181 0.007382 0.005085 0.007382 1122 40 26 10 0 34 810 174 28 241494 23576 29812 6884 17944 21406 112794 23572 5506 0.000066 0.000000 0.000000 0.000000 0.000000 0.000187 0.000106 0.000000 0.000000 8 0 0 0 0 2 6 0 0 1106 40 26 10 0 30 798 174 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4401 12929 72 5 77 0.00837209 0.00113482 0.00592034 0.00837209 0.00113482 0.00592034 289 transition T C T>C 1.000 3.918 S Ser TCA 0.148 P Pro CCA 0.274 376 13 11 Frog -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 215.31 IX.71 Deleterious 0.01 III.59 bad 1.729E-5 9.498E-5 255 PASS . 0.0027 . . 0.01 . 0.0018 0.0043 . 0.006 . . . ANKRD55:NM_024669:exon10:c.T1126C:p.S376P . . 0.5344828 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.495 . @ . . . . . 1 0.928 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Cca|S376P|ANKRD55|mRNA|CODING|NM_024669|NM_024669.ex.10) 0.0011 0.0059 0.0084 0.0011 0.0059 0.0084 . 0.4632 0.478 0.463 c . . . . . 4.197e-03 . . . 0.0012 0.0041 0.0005 0 0.0071 0.0069 0.0049 0.0014 0.0010 0.0039 0.0006 0 0.0074 0.0056 0.0051 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.527 . . exonic exonic exonic . . 0.799 0.0018 . . . 0.41 0.54 182 ENSG00000164512 ANKRD55 ANKRD55 . . . 1.000 0.747 . 423 0.0065101 64976 414 0.00690161 59986 Uncertain_significance . 0 . 0.466 . . . . D 0.550 0.033 . . 37 . 0.468 . . 0.546 . . . 0.656 0.504 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.680 . . 0 0 0 0 0 0 . 0.670 . . 0.608 . . . . . . 0 0.721 . . . . . 0.789 . 0.741 . HET 0.01 rs77017041 . . . . . . . 0.0027472527472527475 0.0 0.0 0.0 0.0079155672823219 15.8839 0.00107 . V.46 V.46 . 0.030000 . . . Name\x3dnsv329245 0.005920 . 0.586 . . V.46 0.0013 0.0044 0.0009 0.0015 0 0.0077 0.0068 0.0042 0.0016 0.0024 0.0062 0.0012 0 0 0.0057 0.0094 0.0092 . . 0.246 . 2.213 2.213000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.452 0.806 . 0.698 . 0.960 2.213 1.039 0.01 . . rs77017041 rs77017041 1 1538 10 1/0 0,255,255 +rs140760439 5 60825947 G A - ZSWIM6 29316 Zinc finger, SWIM-type containing 6 NM_020928.1 1 5503 3648 NP_065979.1 Q9HCJ5 substitution missense exon GRCh37 60825947 60825947 Chr5(GRCh37):g.60825947G>A 1906 1906 NM_020928.1:c.1906G>A p.Val636Met p.Val636Met 8 615951 69 3' 85.5424 8.17243 0.964867 X.72 85.5424 8.17243 0.964867 10.1332 0 rs140760439 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000000 0.008200 0.000000 0.007000 0.004300 0.004200 0.000970 0.004639 0.004789 0.000000 0.007363 0.005146 0.000841 0.006953 0.007363 769 16 115 41 0 168 378 17 34 183082 16492 24792 8562 11862 22816 73454 20214 4890 0.000033 0.000000 0.000000 0.000000 0.000000 0.000175 0.000000 0.000000 0.000409 3 0 0 0 0 2 0 0 1 763 16 115 41 0 164 378 17 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3168 1382 4550 14 2 16 0.00439975 0.00144509 0.00350416 0.00439975 0.00144509 0.00350416 85 transition G A G>A 1.000 3.030 V Val GTG 0.468 M Met ATG 1.000 636 15 11 Fruitfly 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 235.27 0.00 Deleterious 0.01 III.33 bad 2.157E-3 0.0006316 255 PASS . 0.0027 0.01 . 0.01 . 0.0036 0.0043 . 0.007 0.0082 ENSG00000130449:ENST00000252744:exon8:c.G1906A:p.V636M ZSWIM6:uc003jsr.3:exon8:c.G1906A:p.V636M ZSWIM6:NM_020928:exon8:c.G1906A:p.V636M . . 0.55932206 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.841 . @ . . . . . 1 0.980 . . 59.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V636M|ZSWIM6|mRNA|CODING|NM_020928|NM_020928.ex.8) 0.0014 0.0035 0.0044 0.0014 0.0035 0.0044 . 0.5619 0.629 0.562 c . . . . . 4.488e-03 . . . 0.0014 0.0058 0.0024 0 0 0.0063 0.0051 0.0070 0.0013 0.0054 0.0034 0 0.0012 0.0059 0.0056 0.0070 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.635 0.0036 . . . 0.75 0.41 182 ENSG00000130449 ZSWIM6 ZSWIM6 . . . 1.000 0.747 . 315 0.00484794 64976 297 0.00495116 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.358 0.015 . . 37 . 0.357 . . 0.551 . . . 0.145 0.329 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.480 . . 0.594 . . . . . . 0 0.784 . . . . . 0.086 . 0.378 . HET 0 rs140760439 . . . . . . . 0.0027472527472527475 0.0 0.0055248618784530384 0.0 0.005277044854881266 III.83 0.002849 ENST00000252744 V.88 4.IX . 0.000000 Q9HCJ5 . . . 0.003504 . 0.508 . . 4.IX 0.0010 0.0044 0.0048 0.0046 0 0.0008 0.0051 0.0077 0.0074 0.0009 0.0032 0.0012 0.0099 0 0.0009 0.0053 0.0041 . . 0.730 . 2.782 2.782000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.983 . 0.715 . 0.713 2.782 0.069 0.01 . . rs140760439 rs140760439 1 1538 10 1/0 0,255,255 +. 5 64921043 C T - TRAPPC13 25828 Trafficking protein particle complex 13 NM_001093755.1 1 3103 1257 NP_001087224.1 substitution intron GRCh37 64921043 64921043 Chr5(GRCh37):g.64921043C>T 46+110 46+110 NM_001093755.1:c.46+110C>T p.? p.? 1 1 110 5' 81.7632 8.138 0.722198 5.30023 81.7632 8.138 0.722198 5.30023 0 rs1056980418 no no 0 C 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30982 8734 836 302 1622 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.61764705 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . I.95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . TRAPPC13 TRAPPC13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.228e-05 0 0 0 0 6.661e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 5 64921043 C T - TRIM23 660 Tripartite motif-containing 23 NM_001656.3 -1 3900 1725 NP_001647.1 P36406 substitution upstream GRCh37 64921043 64921043 Chr5(GRCh37):g.64921043C>T -942 -942 NM_001656.3:c.-942G>A p.? p.? 1 601747 -1023 5' 90.3122 9.15773 0.958766 6.78337 90.3122 9.15773 0.958766 6.78337 0 rs1056980418 no no 0 C 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30982 8734 836 302 1622 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.61764705 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . I.95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . TRAPPC13 TRAPPC13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.228e-05 0 0 0 0 6.661e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs878916436 5 68874621 C T - GTF2H2C 31394 GTF2H2 family member C NM_001098728.2 1 1658 1188 NP_001092198.1 Q6P1K8 substitution synonymous exon GRCh37 68874621 68874621 Chr5(GRCh37):g.68874621C>T 553 553 NM_001098728.2:c.553C>T p.Leu185= p.Leu185Leu 9 -9 5' 71.6826 7.06725 0.897272 0 71.6826 7.06725 0.897272 0 0 Cryptic Acceptor Weakly Activated 68874630 4.26611 0.007695 68.9304 3.89811 0.020847 71.6423 TFIIH subunit Ssl1/p44 von Willebrand factor, type A Ssl1-like rs878916436 yes no Frequency 1 C 0.000000 0 0.002429 0.005057 0.000000 0.000000 0.000000 0.011111 0.000000 0.000000 0.000000 0.011111 11 8 0 0 0 3 0 0 0 4528 1582 508 142 608 270 914 426 78 0.000442 0.000000 0.000000 0.000000 0.000000 0.007407 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 9 8 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424491 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.969 1.093 L Leu CTA 0.070 L Leu TTA 0.073 185 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . 0.9978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.64 182 ENSG00000183474 GTF2H2C . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0071 0.0025 0 0 0 0 0 0 0.0111 0.0039 0.0023 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs233198 rs233198 rs233198 rs233198 1 1538 10 1/0 0,255,255 +rs878916436 (chr5:68874621 C/T) 5 68874621 C T Transcript NM_001042490.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) GTF2H2C_2 +rs559552701 (chr5:68928787 A/C) 5 68928787 A C Not on a known gene +rs201113383 (chr5:68929009 T/C) 5 68929009 T C Not on a known gene +rs368257592 (chr5:68929196 T/C) 5 68929196 T C Not on a known gene +rs184166635 (chr5:68930320 A/C) 5 68930320 A C Not on a known gene +rs766360193 (chr5:68931081 C/G) 5 68931081 C G Not on a known gene +. (chr5:69195092 T/G) 5 69195092 T G Not on a known gene +. (chr5:69195458 G/T) 5 69195458 G T Not on a known gene +. (chr5:69195705 G/C) 5 69195705 G C Not on a known gene +. (chr5:69195748 G/A) 5 69195748 G A Not on a known gene +. (chr5:69195908 T/G) 5 69195908 T G Not on a known gene +. (chr5:69196274 G/T) 5 69196274 G T Not on a known gene +. (chr5:69196412 G/T) 5 69196412 G T Not on a known gene +. (chr5:69197755 G/C) 5 69197755 G C Not on a known gene +. (chr5:69197875 T/C) 5 69197875 T C Not on a known gene +. (chr5:69198032 T/G) 5 69198032 T G Not on a known gene +. (chr5:69198974 A/C) 5 69198974 A C Not on a known gene +. (chr5:69198978 G/A) 5 69198978 G A Not on a known gene +. (chr5:69211957 G/A) 5 69211957 G A Not on a known gene +. (chr5:69211964 C/T) 5 69211964 C T Not on a known gene +. (chr5:69212048 C/A) 5 69212048 C A Not on a known gene +. (chr5:69216611 A/G) 5 69216611 A G Not on a known gene +. 5 69359244 C T - SMN2 11118 Survival of motor neuron 2, centromeric NM_017411.3 1 1628 885 NP_059107.1 Q16637 substitution synonymous exon GRCh37 69359244 69359244 Chr5(GRCh37):g.69359244C>T 84 84 NM_017411.3:c.84C>T p.Ser28= p.Ser28Ser 2 601627 3 3' 86.5998 8.97548 0.980859 7.76752 86.5998 8.43249 0.978644 7.88205 -0.0209183 Survival motor neuron transition C T C>T 1.000 0.770 S Ser AGC 0.243 S Ser AGT 0.149 28 225 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . 1.1345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.34 182 ENSG00000205571 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . rs17851287 rs17851287 rs26788 rs26788 1 1538 10 1/0 0,255,255 +. 5 69362949 A G - SMN2 11118 Survival of motor neuron 2, centromeric NM_017411.3 1 1628 885 NP_059107.1 Q16637 substitution synonymous exon GRCh37 69362949 69362949 Chr5(GRCh37):g.69362949A>G 462 462 NM_017411.3:c.462A>G p.Gln154= p.Gln154Gln 4 601627 -13 5' 91.9265 X.44 0.998865 0 91.9265 X.44 0.998865 0 0 Survival motor neuron transition A G A>G 0.008 -0.279 Q Gln CAA 0.256 Q Gln CAG 0.744 154 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 9.0 . . . . . . . . . . 0.1733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.38 182 ENSG00000205571 SMN2 . . . . . . . 53628 0.825351 64976 48950 0.816024 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.043 rs4915 rs4915 rs4915 rs4915 1 1538 255 1.I 0,0,255 +. (chr5:69493165 T/C) 5 69493165 T C Not on a known gene +. (chr5:69497813 G/A) 5 69497813 G A Not on a known gene +rs531111787 (chr5:69497820 C/T) 5 69497820 C T Not on a known gene +. (chr5:69510824 T/G) 5 69510824 T G Not on a known gene +. (chr5:69511432 C/T) 5 69511432 C T Not on a known gene +. 5 69529482 C T - GUSBP3 37301 Glucuronidase, beta pseudogene 3 NR_027386.1 -1 1469 0 substitution intron GRCh37 69529482 69529482 Chr5(GRCh37):g.69529482C>T 293-7860 293-7860 NR_027386.1:n.293-7860G>A p.? p.? 4 3 -7860 3' 88.7067 11.1555 0.945787 10.1024 88.7067 11.1555 0.945787 10.1024 0 transition G A G>A 0.000 -14.080 175 PASS . . . . . . . . . . . . . . . . 0.10309278 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . -0.3236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000250867 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +. 5 69729779 C T - GTF2H2B 31393 General transcription factor IIH, polypeptide 2B (pseudogene) NR_033417.1 1 4374 0 substitution exon GRCh37 69729779 69729779 Chr5(GRCh37):g.69729779C>T 730 730 NR_033417.1:n.730C>T 8 -9 5' 71.6826 7.06725 0.897272 0 71.6826 7.06725 0.897272 0 0 Cryptic Acceptor Weakly Activated 69729788 4.26611 0.007695 68.9304 3.89811 0.020847 71.6423 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 332 8 4 4 6 0 242 50 18 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 168 Genomes transition C T C>T 0.984 0.770 255 PASS . . . . . . . . . . . . . . . . 0.59375 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . 0.6072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.49 0.42 182 ENSG00000226259 GTF2H2B GTF2H2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs233198 rs233198 rs233198 rs233198 1 1538 10 1/0 0,255,255 +. (chr5:69784257 A/C) 5 69784257 A C Not on a known gene +. (chr5:69785233 C/A) 5 69785233 C A Not on a known gene +. (chr5:69785787 G/A) 5 69785787 G A Not on a known gene +rs71230772 (chr5:69786058 A/C) 5 69786058 A C Not on a known gene +rs3931806 (chr5:69786606 G/A) 5 69786606 G A Not on a known gene +. (chr5:69805351 C/G) 5 69805351 C G Not on a known gene +. (chr5:69805359 G/A) 5 69805359 G A Not on a known gene +rs376208241 (chr5:69806863 C/G) 5 69806863 C G Not on a known gene +rs71235635 (chr5:69807887 G/A) 5 69807887 G A Not on a known gene +. (chr5:69808074 C/T) 5 69808074 C T Not on a known gene +. (chr5:69825246 C/T) 5 69825246 C T Not on a known gene +. (chr5:69825250 T/G) 5 69825250 T G Not on a known gene +. (chr5:69825858 C/T) 5 69825858 C T Not on a known gene +. (chr5:70070974 T/G) 5 70070974 T G Not on a known gene +. (chr5:70071340 G/T) 5 70071340 G T Not on a known gene +. (chr5:70071478 G/T) 5 70071478 G T Not on a known gene +. (chr5:70073395 G/T) 5 70073395 G T Not on a known gene +. (chr5:70087008 G/A) 5 70087008 G A Not on a known gene +. (chr5:70087015 C/T) 5 70087015 C T Not on a known gene +. (chr5:70087099 C/A) 5 70087099 C A Not on a known gene +. (chr5:70091660 A/G) 5 70091660 A G Not on a known gene +. 5 70234668 C T - SMN1 11117 Survival of motor neuron 1, telomeric NM_000344.3 1 1625 885 NP_000335.1 Q16637 substitution synonymous exon GRCh37 70234668 70234668 Chr5(GRCh37):g.70234668C>T 84 84 NM_000344.3:c.84C>T p.Ser28= p.Ser28Ser 2 600354 3 3' 86.5998 8.97548 0.980859 7.76752 86.5998 8.43249 0.978644 7.88205 -0.0209183 Survival motor neuron CM108223 Spinal muscular atrophy 20564270 DM? transition C T C>T 1.000 0.770 S Ser AGC 0.243 S Ser AGT 0.149 28 213 PASS . . . . . . . . . . . . . . . . 0.19565217 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.8394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.34 182 ENSG00000172062 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs17851287 rs17851287 rs26788 rs26788 1 1538 10 1/0 0,255,255 +rs4915 5 70238373 A G - SMN1 11117 Survival of motor neuron 1, telomeric NM_000344.3 1 1625 885 NP_000335.1 Q16637 substitution synonymous exon GRCh37 70238373 70238373 Chr5(GRCh37):g.70238373A>G 462 462 NM_000344.3:c.462A>G p.Gln154= p.Gln154Gln 4 600354 -13 5' 91.9265 X.44 0.998865 0 91.9265 X.44 0.998865 0 0 Survival motor neuron rs4915 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.976 0.367 Q Gln CAA 0.256 Q Gln CAG 0.744 154 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 8.0 . . . . . . . . . . 0.5735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.35 182 ENSG00000172062 SMN2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.043 rs4915 rs4915 rs4915 rs4915 1 1538 255 1.I 0,0,255 +. (chr5:70511796 C/T) 5 70511796 C T Not on a known gene +. 5 70529817 C T - GUSBP9 42323 Glucuronidase, beta pseudogene 9 NR_033968.1 -1 610 0 substitution intron GRCh37 70529817 70529817 Chr5(GRCh37):g.70529817C>T 107-7836 107-7836 NR_033968.1:n.107-7836G>A p.? p.? 2 1 -7836 3' 88.7067 11.1555 0.945787 10.1024 88.7067 11.1555 0.945787 10.1024 0 transition G A G>A 0.000 -14.080 175 PASS . . . . . . . . . . . . . . . . 0.103225805 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . INTRON(MODIFIER||||GUSBP9|Non-coding_transcript|NON_CODING|NR_033968.2|) . . . . . . . -0.3234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000254276 GUSBP9 GUSBP9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs373074230 5 73207349 G A - ARHGEF28 30322 Rho guanine nucleotide exchange factor (GEF) 28 NM_001080479.2 1 6352 5196 NP_001073948.2 substitution missense exon GRCh37 73207349 73207349 Chr5(GRCh37):g.73207349G>A 4897 4897 NM_001080479.2:c.4897G>A p.Gly1633Ser p.Gly1633Ser 35 612790 -52 5' 78.7895 6.49302 0.97042 0 78.7895 6.49302 0.97042 0 0 rs373074230 yes no Frequency 1 G 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000104 0.000039 0.000000 0.000104 14 0 0 0 0 0 13 1 0 274540 23840 34138 10082 18758 30236 125344 25708 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 13 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8463 4186 12649 1 0 1 0.000118147 0 7.90514e-05 0.000118147 0 7.90514e-05 40 transition G A G>A 0.000 -0.602 G Gly GGC 0.342 S Ser AGC 0.243 1633 12 4 Mouse 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Tolerated 0.56 III.41 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.43243244 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.063 . @ . . . . . 1 0.041 . . 74.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -1.6202 -1.625 -1.620 c . . . . . 4.779e-05 . . . 0 7.495e-05 0 0 0.0003 0.0001 0 0 0 4.284e-05 0 0 0.0002 6.136e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.286 . . exonic exonic exonic . . 0.052 @ . . . 0.27 0.31 182 ENSG00000214944 ARHGEF28 ARHGEF28 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . 0.102 . . . . T 0.161 0.006 . . 37 . 0.141 . . 0.342 . . . 0.094 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.112 . . 0 0 0 0 0 0 . 0.189 . . 0.158 . . . . . . 0 0.048 . . . . . 0.036 . 0.061 . HET 0.4 rs373074230 . . . . . . . . . . . . 2.1882 . . V.41 -2.97 . 0.730000 . . . Name\x3dnsv830349 0.000079 . 0.066 . . . 0 4.927e-05 0 0 0 4.501e-05 9.97e-05 0 0 0 6.457e-05 0 0 0 0 0.0001 0 . . 0.730 . -0.174 -0.174000 . . 0.730000 . . 1.0E-255 0.001 0.137 . 0.104 0.026 . 0.129 . 0.020 -0.174 -1.125 0.0001 . . rs373074230 rs373074230 1 1538 10 1/0 0,255,255 +rs531612756 5 76709235 T C - PDE8B 8794 Phosphodiesterase 8B NM_001349749.1 1 4468 2721 NP_001336678.1 substitution intron GRCh37 76709235 76709235 Chr5(GRCh37):g.76709235T>C 1974+101 1974+101 NM_001349749.1:c.1974+101T>C p.? p.? 18 18 603390 101 5' 84.2838 9.45172 0.958285 5.00651 84.2838 9.45172 0.958285 5.00651 0 rs531612756 yes no Frequency 1 T 0.000000 0 0.000161 0.000000 0.000000 0.000000 0.000000 0.000000 0.000333 0.000000 0.000000 0.000333 5 0 0 0 0 0 5 0 0 30982 8734 838 302 1622 0 15014 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition T C T>C 0.039 0.609 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.0124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000113231 PDE8B PDE8B . . . . . . 10 0.000153903 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531612756 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv4889 . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 5 77745853 C CA - SCAMP1 10563 Secretory carrier membrane protein 1 XR_241791.1 1 4407 0 duplication exon GRCh37 77745854 77745855 Chr5(GRCh37):g.77745854dup 732 732 XR_241791.1:n.732dup 6 606911 -3 5' 87.3609 X.15 0.993697 2.66239 87.3609 X.15 0.995385 0.745162 0.000566236 rs66744502 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999986 0.999901 1.000000 1.000000 1.000000 0.999953 1.000000 1.000000 1.000000 1.000000 221397 20180 19576 8646 13300 21365 109420 24070 4840 221400 20182 19576 8646 13300 21366 109420 24070 4840 0.999973 0.999802 1.000000 1.000000 1.000000 0.999906 1.000000 1.000000 1.000000 110697 10089 9788 4323 6650 10682 54710 12035 2420 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 2 6 8 7784 3474 11258 0.000256871 0.00172414 0.000710101 0.999743 0.998276 0.99929 128 A 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. ENSG00000085365:ENST00000538629:exon7:c.730dupA:p.G243fs SCAMP1:uc003kfl.3:exon8:c.728dupA:p.H243fs UNKNOWN . . 0.9259259 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 27 . . . . . . 1. 1. 1. . . . . . . . . . . 1.000 . . . 0.9998 1.0000 1 1 1 1.0000 1 1 0.9998 1.0000 1 1 1 1.0000 1 1 frameshift_insertion frameshift_insertion unknown . . . exonic exonic exonic . . . . . . . . . . ENSG00000085365 SCAMP1 SCAMP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397998271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 1.0000 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs66744502 rs66744502 1 1538 10 1.I 0,3,3 +rs200054458 5 79095473 T A - CMYA5 14305 Cardiomyopathy associated 5 NM_153610.4 1 12892 12210 NP_705838.3 Q8N3K9 substitution 3'UTR GRCh37 79095473 79095473 Chr5(GRCh37):g.79095473T>A *34 *34 NM_153610.4:c.*34T>A p.? p.? 13 612193 281 3' 87.6006 9.72952 0.97429 9.32641 87.6006 9.72952 0.97429 9.32641 0 rs200054458 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001504 0.000280 0.000164 0.000328 0.000000 0.000000 0.002827 0.001599 0.001366 0.002827 364 6 5 3 0 0 304 38 8 242026 21454 30534 9146 16746 26984 107538 23766 5858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 364 6 5 3 0 0 304 38 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8158 3640 11798 12 2 14 0.00146879 0.000549149 0.00118524 0.00146879 0.000549149 0.00118524 19 transversion T A T>A 0.000 0.367 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . . . . . 0.5116279 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . UTR_3_PRIME(MODIFIER||||CMYA5|mRNA|CODING|NM_153610|NM_153610.ex.13) 0.0005 0.0012 0.0015 0.0005 0.0012 0.0015 . 0.4042 . . . . . . . . 1.485e-03 . . . 0.0005 0.0015 0.0002 0 0.0026 0.0028 0.0022 0 0.0006 0.0019 0.0002 0 0.0028 0.0034 0.0024 0 . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0004 . . . 0.36 0.62 182 ENSG00000250258 CMYA5 CMYA5 . uc003kgc.3:c.*34T>A NM_153610:c.*34T>A . . . 87 0.00133896 64976 85 0.001417 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200054458 . . . . . . . . . . . . . . . . . . . . . . . 0.001185 . . . . II.22 0.0002 0.0014 0.0001 0.0003 0 0.0016 0.0027 0.0016 0 0.0003 0.0020 0.0012 0 0 0.0014 0.0035 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs200054458 rs200054458 1 1538 10 1/0 0,255,255 +. 5 79354086 C G - THBS4 11788 Thrombospondin 4 NM_003248.5 1 3271 2886 NP_003239.2 P35443 substitution missense exon GRCh37 79354086 79354086 Chr5(GRCh37):g.79354086C>G 598 598 NM_003248.5:c.598C>G p.Leu200Val p.Leu200Val 4 600715 -52 5' 80.4452 6.34467 0.761499 1.74284 80.4452 6.34467 0.761499 2.00361 0 transversion C G C>G 1.000 2.142 L Leu CTG 0.404 V Val GTG 0.468 200 12 10 Zebrafish 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 101.88 26.34 Tolerated 0.17 III.51 255 PASS . . . . . . . . . . . . THBS4:uc021yaw.1:exon4:c.C598G:p.L200V . . . 0.67164177 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.751 . @ . . . . . 1 0.741 . . 67.0 . . . . . . . . . . 0.3213 0.389 0.321 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.867 . . exonic exonic exonic . . 0.876 @ . . . . . . ENSG00000113296 THBS4 THBS4 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . 0.559 . . . . D 0.663 0.055 . . 37 . 0.833 . . 0.839 . . . 0.761 0.433 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.348 . . 0 0 0 0 0 0 . 0.431 . . 0.343 . . . . . . 0 0.393 . . . . . 0.654 . 0.468 . HET 0.04 . . . . . . . . . . . . . 14.247 . . V.67 V.67 . 0.160000 P35443 . . . . . 0.589 . . V.67 . . . . . . . . . . . . . . . . . . . 0.609 . 2.667 2.667000 . . 0.160000 . . 1.0E-255 1.000 0.715 . 0.574 0.997 . 0.313 . 0.362 2.667 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs138974357 5 86708510 G T - CCNH 1594 Cyclin H NM_001239.3 -1 1395 972 NP_001230.1 P51946 substitution synonymous exon GRCh37 86708510 86708510 Chr5(GRCh37):g.86708510G>T 102 102 NM_001239.3:c.102C>A p.Ala34= p.Ala34Ala 1 601953 -16 5' 90.3122 9.15773 0.720265 9.31979 90.3122 9.15773 0.720265 8.91826 0 Cyclin H Cyclin C/H rs138974357 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.003000 0.002900 0.003095 0.000208 0.000756 0.012724 0.000000 0.003089 0.004064 0.002328 0.004338 0.012724 856 5 26 129 0 95 513 60 28 276576 23986 34400 10138 18852 30750 126228 25768 6454 0.000051 0.000000 0.000000 0.000395 0.000000 0.000130 0.000048 0.000000 0.000000 7 0 0 2 0 2 3 0 0 842 5 26 125 0 91 507 60 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8562 4405 12967 38 1 39 0.0044186 0.000226963 0.00299862 0.0044186 0.000226963 0.00299862 77 transversion C A C>A 0.173 -0.279 A Ala GCC 0.403 A Ala GCA 0.226 34 111 PASS . 0.0018 0.0028 . 0.004 . 0.0012 0.0029 . 0.003 0.001 ENSG00000134480:ENST00000256897:exon1:c.C102A:p.A34A CCNH:uc003kjb.3:exon1:c.C102A:p.A34A CCNH:NM_001239:exon1:c.C102A:p.A34A . . 1.0 . . @ 113 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 113.0 . . . 0.0002 0.003 0.0044 0.0002 0.003 0.0044 . 2.1408 . . . . . . . . 2.873e-03 . . . 0.0004 0.0032 0.0003 0 0.0035 0.0051 0.0086 0.0029 0.0005 0.0025 0.0003 0 0.0031 0.0034 0.0059 0.0029 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.57 0.5 182 ENSG00000134480 CCNH CCNH . . . . . . 176 0.00270869 64976 170 0.00283399 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs138974357 . . . . . . . . . . . . . . . . . . . . . . . 0.002999 . . . . . 0.0002 0.0030 0.0008 0.0129 0 0.0022 0.0037 0.0038 0.0031 0.0002 0.0041 0 0.0066 0 0.0029 0.0071 0.0071 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.0044 . . rs138974357 rs138974357 1 1538 255 1.I 0,0,255 +rs149766065 5 94927243 C T - ARSK 25239 Arylsulfatase family, member K NM_198150.2 1 3345 1611 NP_937793.1 Q6UWY0 substitution missense exon GRCh37 94927243 94927243 Chr5(GRCh37):g.94927243C>T 1010 1010 NM_198150.2:c.1010C>T p.Pro337Leu p.Pro337Leu 6 610011 -87 5' 87.3609 X.15 0.992977 0.501832 87.3609 X.15 0.992977 0.501832 0 Sulfatase rs149766065 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.001000 0.001400 0.000685 0.000250 0.000203 0.000000 0.000000 0.001949 0.000900 0.000039 0.000309 0.001949 190 6 7 0 0 60 114 1 2 277184 24024 34418 10152 18866 30782 126680 25794 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 188 6 7 0 0 60 112 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4404 12994 10 2 12 0.00116279 0.000453926 0.000922651 0.00116279 0.000453926 0.000922651 234 transition C T C>T 1.000 5.694 P Pro CCG 0.115 L Leu CTG 0.404 337 11 11 Fruitfly -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C65 0.00 97.78 Deleterious 0 III.39 bad 4.136E-5 0.0002166 255 PASS . 0.0005 . . 0.0013 . 0.0006 0.0014 . 0.001 0.001 . . ARSK:NM_198150:exon6:c.C1010T:p.P337L . . 0.3655914 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.855 . @ . . . . . 1 0.930 . . 93.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P337L|ARSK|mRNA|CODING|NM_198150|NM_198150.ex.6) 0.0005 0.0009 0.0012 0.0005 0.0009 0.0012 . 0.8372 0.689 0.837 c . . . . . 6.551e-04 . . . 0.0003 0.0007 0.0003 0 0 0.0006 0.0028 0.0016 0.0003 0.0007 0.0003 0 0.0002 0.0007 0.0029 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 1.000 . . exonic exonic exonic . . 0.861 0.0006 . . . 0.51 0.59 182 ENSG00000164291 ARSK ARSK . . . 1.0 0.983 . 26 0.000400148 64976 23 0.000383423 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.985 0.805 . . 37 . 1.000 . . 0.976 . . . 0.952 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.982 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.960 . 0.937 . HET 0 rs149766065 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 19.6846 5.35E-4 ENST00000380009 V.63 V.63 . 0.000000 Q6UWY0 . . . 0.000923 . 0.526 . . V.63 0.0002 0.0007 0.0002 0 0 4.484e-05 0.0009 0.0002 0.0019 0.0003 0.0005 0.0012 0 0 0 0.0007 0.0010 . . 0.558 . 2.644 2.644000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.122 0.363 . 0.812 . 0.445 2.644 0.871 0.0013 . . rs149766065 rs149766065 1 1538 10 1/0 0,254,255 +rs137934951 5 95231436 C T - ELL2 17064 Elongation factor, RNA polymerase II, 2 NM_012081.5 -1 6046 1923 NP_036213.2 O00472 substitution intron GRCh37 95231436 95231436 Chr5(GRCh37):g.95231436C>T 1526-41 1526-41 NM_012081.5:c.1526-41G>A p.? p.? 9 8 601874 -41 3' 92.4143 10.1442 0.99834 11.1599 92.4143 10.1442 0.99834 11.V 0 Cryptic Acceptor Strongly Activated 95231432 2.20579 0.044049 66.2939 2.63373 0.089264 66.2939 rs137934951 yes no Frequency/1000G 2 C 0.000000 0 0.008586 0.000000 0.026600 0.001000 0.014900 0.001400 0.009023 0.001507 0.004511 0.017162 0.000590 0.024567 0.009600 0.004236 0.009428 0.024567 2462 36 152 171 11 721 1202 109 60 272856 23894 33694 9964 18650 29348 125212 25730 6364 0.000183 0.000000 0.000000 0.000000 0.000000 0.001022 0.000128 0.000155 0.000000 25 0 0 0 0 15 8 2 0 2412 36 152 171 11 691 1186 105 60 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8515 4403 12918 85 3 88 0.00988372 0.00068089 0.00676611 0.00988372 0.00068089 0.00676611 42 transition G A G>A 0.000 0.044 255 PASS . 0.01 0.0028 . 0.02 . 0.0086 0.0014 0.001 0.015 0.027 . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||ELL2|mRNA|CODING|NM_012081|) 0.0007 0.0068 0.0099 0.0007 0.0068 0.0099 . 0.5118 . . . . . . . . . . . . 0.0011 0.0110 0.0044 0.0005 0.0018 0.0118 0.0156 0.0254 0.0010 0.0103 0.0042 0.0005 0.0021 0.0108 0.0190 0.0254 . . . . . . intronic intronic intronic . . . 0.0086 . . . 0.42 0.3 182 ENSG00000118985 ELL2 ELL2 . . . . . . 563 0.00866474 64976 521 0.00868536 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs137934951 . . . . . . . . . . . . . . . . . . . . . . . 0.006766 . . . . . 0.0013 0.0094 0.0045 0.0173 0.0006 0.0042 0.0096 0.0097 0.0246 0.0018 0.0061 0.0060 0.0132 0 0.0043 0.0094 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs137934951 rs137934951 1 1538 10 1/0 0,255,255 +rs142423997 5 95759173 A G - PCSK1 8743 Proprotein convertase subtilisin/kexin type 1 NM_000439.4 -1 5166 2262 NP_000430.3 P29120 substitution intron GRCh37 95759173 95759173 Chr5(GRCh37):g.95759173A>G 397-10 397-10 NM_000439.4:c.397-10T>C p.? p.? 4 3 162150 -10 3' 92.4026 7.72252 0.974835 6.32878 89.2783 7.32285 0.966743 5.99261 -0.0312893 rs142423997 yes no Frequency/1000G 2 A uncertain_significance 0.000000 0 0.002995 0.000000 0.004100 0.000000 0.008000 0.004300 0.005993 0.000749 0.001135 0.001182 0.000000 0.003642 0.006723 0.022997 0.005423 0.022997 1660 18 39 12 0 112 851 593 35 276972 24034 34358 10152 18860 30752 126576 25786 6454 0.000094 0.000000 0.000000 0.000000 0.000000 0.000130 0.000063 0.000543 0.000000 13 0 0 0 0 2 4 7 0 1634 18 39 12 0 108 843 579 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4401 12967 34 5 39 0.00395349 0.00113482 0.00299862 0.00395349 0.00113482 0.00299862 71 RCV000395733.1|RCV000307699.1 germline|germline clinical testing|clinical testing VUS|VUS 1|1 Proprotein convertase 1/3 deficiency|Monogenic Non-Syndromic Obesity transition T C T>C 0.047 0.609 255 PASS . 0.01 0.01 . 0.01 . 0.003 0.0043 . 0.008 0.0041 . . . . . 0.6 . . germline 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance//\%//\@Uncertain//\@significance Uncertain_significance|Uncertain_significance RCV000307699.1|RCV000395733.1 Monogenic_Non-Syndromic_Obesity|Proprotein_convertase_1/3_deficiency MedGen|MedGen:OMIM:Orphanet CN239457|C1833053:600955:ORPHA71528 2 . . . 45.0 . . . 0.0011 0.003 0.004 0.0011 0.003 0.004 . 0.7472 . . . . . . . . 5.848e-03 . . . 0.0008 0.0045 0.0012 0.0002 0.0284 0.0051 0.0071 0.0031 0.0009 0.0058 0.0013 0 0.0270 0.0066 0.0088 0.0032 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0030 . . . 0.24 0.44 182 ENSG00000251314 PCSK1 LOC101929710 . . . . . . 402 0.0061869 64976 387 0.00645151 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142423997 . . . . . . . . . . . . . . . . . . . . 0.0003 0.008 . 0.002999 . . . . II.21 0.0007 0.0057 0.0011 0.0012 0 0.0233 0.0062 0.0044 0.0036 0.0009 0.0082 0.0012 0 0 0.0212 0.0106 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs142423997 rs142423997 1 1538 10 1/0 0,255,255 +rs78649652 5 96124373 C T - ERAP1 18173 Endoplasmic reticulum aminopeptidase 1 NM_001349244.1 -1 5580 2847 NP_001336173.1 substitution missense exon GRCh37 96124373 96124373 Chr5(GRCh37):g.96124373C>T 1540 1540 NM_001349244.1:c.1540G>A p.Gly514Arg p.Gly514Arg 11 606832 16 3' 71.4588 2.72936 0.042742 1.13784 71.4588 2.72936 0.051531 1.13644 0.068543 rs78649652 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.005100 0.000000 0.010900 0.011500 0.006312 0.002082 0.005757 0.003450 0.000053 0.003933 0.009576 0.003536 0.006190 0.009576 1748 50 198 35 1 121 1212 91 40 276948 24018 34390 10146 18866 30768 126562 25736 6462 0.000051 0.000000 0.000058 0.000000 0.000000 0.000000 0.000079 0.000078 0.000000 7 0 1 0 0 0 5 1 0 1734 50 196 35 1 121 1202 89 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4393 12898 95 13 108 0.0110465 0.00295052 0.00830386 0.0110465 0.00295052 0.00830386 110 COSM4407090 Liver 0.000422 2371 transition G A G>A 0.008 1.174 G Gly GGG 0.250 R Arg AGG 0.207 514 12 4 Baker's yeast -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 186.24 13.17 Tolerated 0.54 II.96 255 PASS . 0.01 0.01 . 0.01 . 0.0048 0.011 . 0.011 0.0051 . . . . . 0.43023255 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.307 . @ . . . . . 1 0.188 . . 86.0 . . . 0.003 0.0083 0.011 0.003 0.0083 0.011 . -0.3986 -0.392 -0.399 c . . . . . 6.164e-03 . . . 0.0024 0.0064 0.0058 0 0.0048 0.0095 0.0071 0.0041 0.0024 0.0060 0.0059 0 0.0041 0.0082 0.0089 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.048 . . exonic exonic exonic . . 0.387 0.0048 . . . 0.56 0.29 182 ENSG00000164307 ERAP1 ERAP1 . . . 0.994 0.335 . 609 0.00937269 64976 585 0.00975228 59986 Uncertain_significance . 0 . 0.099 . . . . . . . . . 37 . 0.075 . . 0.450 . . . 0.763 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.277 . . 0.289 . . . . . . 0 0.072 . . . . . 0.321 . 0.326 . HET 0.14 rs78649652 . . . . . . . 0.005952380952380952 0.0 0.008287292817679558 0.0 0.013192612137203167 VIII.37 0.00214 . VI.17 III.47 . 0.590000 . . . . 0.008304 . 0.129 . . III.47 0.0020 0.0064 0.0058 0.0035 5.799e-05 0.0033 0.0097 0.0058 0.0039 0.0022 0.0057 0.0060 0.0033 0 0.0049 0.0085 0.0081 . . 0.609 . 0.949 0.949000 . . 0.590000 . . 1.0E-255 0.003 0.159 . 0.359 0.076 . 0.352 . 0.490 0.949 0.871 0.011 . . rs78649652 rs78649652 1 1538 10 1/0 0,255,255 +rs147243219 (chr5:96208940 T/G) 5 96208940 T G Not on a known gene +rs201630000 (chr5:99728376 C/T) 5 99728376 C T Not on a known gene +rs116647695 5 110407124 G A - TSLP 30743 Thymic stromal lymphopoietin NM_033035.4 1 2629 480 NP_149024.1 Q969D9 substitution upstream GRCh37 110407124 110407124 Chr5(GRCh37):g.110407124G>A -465 -465 NM_033035.4:c.-465G>A p.? p.? 1 607003 -636 5' 87.9846 9.65245 0.993966 0 87.9846 9.65245 0.993966 0 0 rs116647695 yes no Frequency/1000G 2 G 0.000000 0 0.008387 0.012100 0.013300 0.000000 0.008000 0.007200 0.009047 0.017190 0.002387 0.003311 0.000000 0.000000 0.007805 0.000859 0.007128 0.017190 280 150 2 1 0 0 117 3 7 30950 8726 838 302 1620 0 14990 3492 982 0.003571 0.006667 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 278 148 2 1 0 0 117 3 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.360 255 PASS 0.02 0.01 0.01 . 0.0026 0.012 0.0084 0.0072 . 0.008 0.013 . . . . . 0.5443038 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.1339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.0084 . . . 0.37 0.67 182 ENSG00000145777 TSLP TSLP ENST00000420978:c.-58G>A . . . . . 412 0.0063408 64976 370 0.00616811 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116647695 0.022 0.014 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830447 . . . . . . . . . . . . . . . 0.0172 0.0090 0.0024 0.0033 0 0.0009 0.0078 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs116647695 rs116647695 1 1538 10 1/0 0,255,255 +rs2229994 5 112178492 C T - APC 583 APC, WNT signaling pathway regulator NM_001354896.1 1 10784 8586 NP_001341825.1 substitution synonymous exon GRCh37 112178492 112178492 Chr5(GRCh37):g.112178492C>T 7255 7255 NM_001354896.1:c.7255C>T p.Leu2419= p.Leu2419Leu 17 611731 5243 3' 93.5566 7.52626 0.809109 5.87243 93.5566 7.52626 0.809109 5.87243 0 rs2229994 yes no Frequency/HapMap/1000G 3 C uncertain_significance,benign,likely_benign 0.000000 0 0.009900 0.008542 0.011229 0.023532 0.000053 0.002438 0.013547 0.001863 0.011957 0.023532 2731 205 386 238 1 75 1701 48 77 275872 24000 34376 10114 18846 30766 125566 25764 6440 0.000174 0.000000 0.000291 0.001384 0.000000 0.000000 0.000191 0.000000 0.000000 24 0 5 7 0 0 12 0 0 2683 205 376 224 1 75 1677 48 77 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8481 4371 12852 119 33 152 0.0138372 0.00749319 0.0116887 0.0138372 0.00749319 0.0116887 71 RCV000119165.4|RCV000128900.2|RCV000035082.4|RCV000303809.1 germline|germline|germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Benign|Benign|Likely benign 1|2|2|1 Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not specified|APC-Associated Polyposis Disorders COSM6476031 Large intestine 0.000082 12240 transition C T C>T 0.504 0.528 L Leu CTA 0.070 L Leu TTA 0.073 2419 255 PASS 0.01 0.01 0.01 . 0.02 . . . . . . . . . . . 0.45454547 . . germline 15 . . 1.2.2016 0 0 0 0 1 0 1 1 1 0 0 0 . . . . . . . . Benign//\%//\@Benign//\%//\@Benign//\%//\@Likely//\@benign Benign|Benign|Benign|Likely_benign RCV000035082.3|RCV000119165.3|RCV000128900.2|RCV000303809.1 not_specified|Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders MedGen|MedGen:OMIM|MedGen:SNOMED_CT|MedGen CN169374|C2713442:175100|C0027672:699346009|CN239210 2 . . . 33.0 . . . 0.0075 0.012 0.014 0.0075 0.012 0.014 . I.39 . . . . . . . . 9.613e-03 . . . 0.0089 0.0109 0.0102 0 0.0018 0.0171 0.0155 0.0025 0.0089 0.0092 0.0101 0 0.0020 0.0132 0.0159 0.0025 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.34 182 ENSG00000134982 APC APC . . . . . . 896 0.0137897 64976 849 0.0141533 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2229994 . . . CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dnot_specified|Adenomatous_polyposis_coli|Neoplastic_Syndromes\x2c_Hereditary\x3bCLNREVSTAT\x3dsingle|single|single\x3bCLNACC\x3dRCV000035082.1|RCV000119165.1|RCV000128900.1\x3bCLNDSDB\x3d.|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3d.|NBK1345:CN074282:175100:ORPHA733:70921007|C0027672 CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dnot_specified|Adenomatous_polyposis_coli|Hereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dsingle|single|single\x3bCLNACC\x3dRCV000035082.2|RCV000119165.1|RCV000128900.2\x3bCLNDSDB\x3dMedGen|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:SNOMED_CT\x3bCLNDSDBID\x3dCN169374|NBK1345:CN074282:175100:ORPHA733:70921007|C0027672:699346009 CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dnot_specified|Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000035082.2|RCV000119165.1|RCV000128900.2\x3bCLNDSDB\x3dMedGen|GeneReviews:MedGen:OMIM:Orphanet|MedGen:SNOMED_CT\x3bCLNDSDBID\x3dCN169374|NBK1345:C2713442:175100:ORPHA733|C0027672:699346009 . . . . . . . . . . . . . . . . . 0.011689 . . . . 3.II 0.0079 0.0099 0.0112 0.0233 5.805e-05 0.0019 0.0138 0.0125 0.0024 0.0096 0.0096 0.0119 0.0298 0 0.0017 0.0119 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs2229994 rs2229994 rs2229994 rs2229994 1 1538 10 1/0 0,255,255 +rs77180725 5 112870101 C T - YTHDC2 24721 YTH domain containing 2 NM_022828.3 1 6308 4293 NP_073739.3 Q9H6S0 substitution synonymous exon GRCh37 112870101 112870101 Chr5(GRCh37):g.112870101C>T 942 942 NM_022828.3:c.942C>T p.Ile314= p.Ile314Ile 6 616530 -4 5' 83.1053 VIII.62 0.996565 0 83.1053 VIII.62 0.995162 0 -0.000469279 DNA/RNA helicase, DEAD/DEAH box type, N-terminal DEAD-like helicase rs77180725 yes no Frequency/1000G 2 C 0.000000 0 0.006190 0.020400 0.003100 0.000000 0.000000 0.001400 0.002155 0.021775 0.000756 0.000099 0.000000 0.001234 0.000039 0.000000 0.000620 0.021775 597 523 26 1 0 38 5 0 4 276998 24018 34386 10150 18864 30782 126586 25758 6454 0.000036 0.000416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 5 5 0 0 0 0 0 0 0 587 513 26 1 0 38 5 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4311 12910 1 93 94 0.000116279 0.0211172 0.00722855 0.000116279 0.0211172 0.00722855 205 transition C T C>T 1.000 1.416 I Ile ATC 0.481 I Ile ATT 0.356 314 255 PASS 0.02 0.0046 . . . 0.02 0.0062 0.0014 . . 0.0031 . . YTHDC2:NM_022828:exon6:c.C942T:p.I314I . . 0.5686275 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I314|YTHDC2|mRNA|CODING|NM_022828|NM_022828.ex.6) 0.021 0.0072 0.0001 0.021 0.0072 0.0001 . I.00 . . . . . . . . 2.170e-03 . . . 0.0230 0.0030 0.0004 0 0 4.747e-05 0 0.0015 0.0223 0.0022 0.0004 0 0 1.84e-05 0 0.0013 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0062 . . . 0.37 0.67 182 ENSG00000047188 YTHDC2 YTHDC2 . . . . . . 36 0.000554051 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77180725 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.007229 . . . . . 0.0227 0.0017 0.0008 0 0 0 4.48e-05 0.0004 0.0012 0.0201 0.0058 0 0.0033 0 0 0 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs77180725 rs77180725 1 1538 10 1/0 0,255,255 +rs114923042 5 115628237 G T - COMMD10 30201 COMM domain containing 10 NM_016144.3 1 1487 609 NP_057228.1 Q9Y6G5 substitution 3'UTR GRCh37 115628237 115628237 Chr5(GRCh37):g.115628237G>T *51 *51 NM_016144.3:c.*51G>T p.? p.? 7 616704 90 3' 72.3849 7.65182 0.708551 4.04132 72.3849 7.65182 0.708551 4.04132 0 Cryptic Acceptor Strongly Activated 115628246 5.22586 0.652782 78.5585 V.33 0.930964 84.0112 rs114923042 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.001000 0.000000 0.006000 0.004300 0.004909 0.001643 0.004646 0.009462 0.000000 0.000471 0.007497 0.001705 0.003885 0.009462 1178 37 117 82 0 11 871 39 21 239944 22514 25182 8666 15780 23348 116176 22872 5406 0.000058 0.000000 0.000000 0.000231 0.000000 0.000086 0.000086 0.000000 0.000000 7 0 0 1 0 1 5 0 0 1164 37 117 80 0 9 861 39 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4394 12920 74 10 84 0.00860465 0.00227066 0.00645955 0.00860465 0.00227066 0.00645955 147 transversion G T G>T 0.024 0.044 255 PASS . 0.0027 . . 0.01 . 0.002 0.0043 . 0.006 0.001 . . . . . 0.53333336 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . 0.0023 0.0065 0.0086 0.0023 0.0065 0.0086 . 0.6719 . . . . . . . . 4.816e-03 . . . 0.0018 0.0045 0.0046 0 0.0008 0.0075 0.0070 0.0007 0.0019 0.0046 0.0047 0 0.0015 0.0073 0.0043 0.0007 . . . . . . UTR3 UTR3 UTR3 . . . 0.0020 . . . 0.68 0.66 182 ENSG00000145781 COMMD10 COMMD10 . uc003krt.1:c.*51G>T . . . . 376 0.00578675 64976 366 0.00610142 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114923042 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006460 . . . . . 0.0016 0.0050 0.0046 0.0093 0 0.0016 0.0076 0.0041 0.0005 0.0017 0.0043 0.0048 0.0134 0 0.0021 0.0065 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs114923042 rs114923042 1 1538 10 1/0 0,255,255 +rs200658031 5 118310290 C T - DTWD2 19334 DTW domain containing 2 NM_173666.3 -1 5834 897 NP_775937.1 Q8NBA8 substitution intron GRCh37 118310290 118310290 Chr5(GRCh37):g.118310290C>T 218+13699 218+13699 NM_173666.3:c.218+13699G>A p.? p.? 1 1 13699 5' 77.1631 6.53894 0.290578 12.0759 77.1631 6.53894 0.290578 12.0759 0 rs200658031 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000041 1 0 1 0 0 0 0 0 0 234484 22838 24476 7484 16584 23486 110466 23872 5278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 0.528 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 36.0 . . . . . . . . . . 0.8345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.46 0.25 182 ENSG00000169570 MIR1244-2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200658031 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv882767 . . . . . . 0 4.898e-06 4.228e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs200658031 rs200658031 1 1538 10 1/0 0,255,255 +rs200658031 5 118310290 C T - MIR1244-2 38321 MicroRNA 1244-2 NR_036262.1 1 85 0 substitution exon GRCh37 118310290 118310290 Chr5(GRCh37):g.118310290C>T 10 10 NR_036262.1:n.10C>T 1 rs200658031 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000041 1 0 1 0 0 0 0 0 0 234484 22838 24476 7484 16584 23486 110466 23872 5278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 1.000 0.528 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 36.0 . . . . . . . . . . 0.8345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.46 0.25 182 ENSG00000169570 MIR1244-2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs200658031 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv882767 . . . . . . 0 4.898e-06 4.228e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs200658031 rs200658031 1 1538 10 1/0 0,255,255 +rs485847 5 122685801 G A - CEP120 26690 Centrosomal protein 120kDa NM_153223.3 -1 4711 2961 NP_694955.2 Q8N960 substitution intron GRCh37 122685801 122685801 Chr5(GRCh37):g.122685801G>A 2581-18 2581-18 NM_153223.3:c.2581-18C>T p.? p.? 20 19 613446 -18 3' 85.1776 6.90306 0.907914 5.66583 85.1776 6.60839 0.942516 5.82219 -0.00152537 rs485847 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999977 1.000000 1.000000 1.000000 1.000000 0.999964 0.999968 1.000000 0.999836 1.000000 264772 23768 31020 9520 17972 27749 123156 25480 6107 264778 23768 31020 9520 17972 27750 123160 25480 6108 0.999955 1.000000 1.000000 1.000000 1.000000 0.999928 0.999935 1.000000 0.999673 132383 11884 15510 4760 8986 13874 61576 12740 3053 6 0 0 0 0 1 4 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.682 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.2286 . . . . . . . . 1.00 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.41 0.24 182 ENSG00000168944 CEP120 CEP120 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs485847 1.000 1.000 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830472 . . . . . . 1 1.0000 1 1 1 1 1.0000 0.9998 1.0000 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs485847 rs485847 rs485847 rs485847 1 1538 255 1.I 0,0,255 +. 5 127419776 G A - LINC01184 49565 Long intergenic non-protein coding RNA 1184 NR_015360.1 -1 2954 0 substitution upstream GRCh37 127419776 127419776 Chr5(GRCh37):g.127419776G>A -1010 -1010 NR_015360.1:n.-1010C>T p.? p.? 1 -1115 5' 81.7977 8.41759 0.949216 7.88601 81.7977 8.41759 0.949216 7.88601 0 transition C T C>T 0.969 1.577 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.333 . @ . . . . . 1 0.885 . . 11.0 . . . . . . . . . . -0.4748 -0.342 -0.475 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.858 . . exonic exonic exonic . . 0.435 @ . . . . . . ENSG00000064651 SLC12A2 SLC12A2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . D 0.998 0.965 . . 37 . 0.748 . . 0.657 . . . 0.387 0.293 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.204 . . 0.253 . . . . . . 0 0.546 . . . . . 0.465 . 0.302 . HET 0.03 . . . . . . . . . . . . . X.34 . . III.86 III.86 . 0.230000 . . . Name\x3dnsv4993 . . 0.272 . . III.86 . . . . . . . . . . . . . . . . . . . 0.211 . 1.674 1.674000 . . 0.230000 . . 1.0E-255 0.027 0.200 . 0.276 0.468 . 0.348 . 0.298 1.674 0.809 . . . . . 1 1538 10 1/0 0,255,255 +. 5 127419776 G A - SLC12A2 10911 Solute carrier family 12 (sodium/potassium/chloride transporter), member 2 NM_001046.2 1 6860 3639 NP_001037.1 P55011 substitution missense exon GRCh37 127419776 127419776 Chr5(GRCh37):g.127419776G>A 130 130 NM_001046.2:c.130G>A p.Glu44Lys p.Glu44Lys 1 600840 -627 5' 89.5524 9.59704 0.985418 14.4326 89.5524 9.59704 0.985418 14.4326 0 Cryptic Acceptor Strongly Activated 127419779 0.000102 67.2435 IV.89 0.007181 68.0981 transition G A G>A 0.969 1.577 E Glu GAG 0.583 K Lys AAG 0.575 44 12 4 Mouse 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.333 . @ . . . . . 1 0.885 . . 11.0 . . . . . . . . . . -0.4748 -0.342 -0.475 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.858 . . exonic exonic exonic . . 0.435 @ . . . . . . ENSG00000064651 SLC12A2 SLC12A2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . D 0.998 0.965 . . 37 . 0.748 . . 0.657 . . . 0.387 0.293 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.204 . . 0.253 . . . . . . 0 0.546 . . . . . 0.465 . 0.302 . HET 0.03 . . . . . . . . . . . . . X.34 . . III.86 III.86 . 0.230000 . . . Name\x3dnsv4993 . . 0.272 . . III.86 . . . . . . . . . . . . . . . . . . . 0.211 . 1.674 1.674000 . . 0.230000 . . 1.0E-255 0.027 0.200 . 0.276 0.468 . 0.348 . 0.298 1.674 0.809 . . . . . 1 1538 10 1/0 0,255,255 +. 5 127512817 A T - SLC12A2 10911 Solute carrier family 12 (sodium/potassium/chloride transporter), member 2 NM_001046.2 1 6860 3639 NP_001037.1 P55011 substitution missense exon GRCh37 127512817 127512817 Chr5(GRCh37):g.127512817A>T 2950 2950 NM_001046.2:c.2950A>T p.Thr984Ser p.Thr984Ser 21 600840 21 3' 59.5542 3.46348 0.002018 0 59.5542 3.46348 0.002018 0 0 Na/K/Cl co-transporter superfamily transversion A T A>T 1.000 2.142 T Thr ACT 0.243 S Ser TCT 0.185 984 12 8 Baker's yeast 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 229.24 0.00 Tolerated 0.49 III.14 good 9.137E-1 0.3286 239 PASS . . . . . . . . . . . . SLC12A2:uc003kus.3:exon21:c.A2950T:p.T984S SLC12A2:NM_001046:exon21:c.A2950T:p.T984S . . 0.28 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.130 . @ . . . . . 1 0.151 . . 25.0 . . . . . . . . . . -0.2830 -0.040 -0.283 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.846 . . exonic exonic exonic . . 0.691 @ . . . . . . ENSG00000064651 SLC12A2 SLC12A2 . . . 0.971 0.292 . . . . . . . Uncertain_significance . 0 . 0.330 . . . . T 0.462 0.023 . . 37 . 0.673 . . 0.627 . . . 0.351 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.119 . . 0.104 . . . . . . 1 0.038 . . . . . 0.506 . 0.155 . HET 0.54 . . . . . . . . . . . . . XI.89 . ENST00000262461 5.XI 5.XI . 0.640000 P55011 . . Name\x3dnsv830482 . . 0.476 . . 5.XI . . . . . . . . . . . . . . . . . . . 0.924 . 2.270 2.270000 . . 0.640000 . . 1.0E-239 1.000 0.715 . 0.888 1.000 . 0.571 . 0.893 2.270 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs146849637 5 127782297 C T - FBN2 3604 Fibrillin 2 NM_001999.3 -1 10724 8739 NP_001990.2 P35556 substitution missense exon GRCh37 127782297 127782297 Chr5(GRCh37):g.127782297C>T 829 829 NM_001999.3:c.829G>A p.Val277Ile p.Val277Ile 7 612570 3 3' 95.2467 X.03 0.990892 8.51154 95.2467 X.55 0.991552 7.90082 -0.00769187 EGF-like calcium-binding Epidermal growth factor-like, type 3 Fibrillin rs146849637 yes no Frequency/1000G 2 C uncertain_significance,likely_benign 0.000000 0 0.000998 0.000800 0.000000 0.000000 0.002000 0.002900 0.001688 0.000957 0.000523 0.000000 0.000000 0.000000 0.003070 0.001319 0.000619 0.003070 468 23 18 0 0 0 389 34 4 277186 24040 34420 10150 18870 30782 126690 25770 6464 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 466 23 16 0 0 0 389 34 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4401 12968 33 5 38 0.00383721 0.00113482 0.00292173 0.00383721 0.00113482 0.00292173 104 RCV000195579.6|RCV000204651.4|RCV000252317.1|RCV000514077.1 germline|germline|germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|Likely benign|VUS|Likely benign 1|2|1|1 not specified|Congenital contractural arachnodactyly|Thoracic aortic aneurysm and aortic dissection|not provided transition G A G>A 1.000 5.694 V Val GTT 0.178 I Ile ATT 0.356 277 11 8 Cow 3 3 4 0 0 5.IX 5.II 84 111 29 C0 227.53 28.68 Tolerated 0.08 IV.32 good 1.437E-1 0.007585 255 PASS . 0.0009 0.0028 . 0.0013 0.0008 0.001 0.0029 . 0.002 . . . FBN2:NM_001999:exon7:c.G829A:p.V277I . . 0.5 . . germline 14 . . 1.2.2016 0 0 0 0 0 0 1 0 0 0 0 0 . . . . . . 0.354 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Likely//\@benign//\%//\@Uncertain//\@significance other|Likely_benign|Uncertain_significance RCV000195579.4|RCV000204651.3|RCV000252317.1 not_specified|Congenital_contractural_arachnodactyly|Thoracic_aortic_aneurysm_and_aortic_dissection MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet CN169374|C0220668:121050:ORPHA115:205821003|CN118826:ORPHA91387 1 0.250 . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V277I|FBN2|mRNA|CODING|NM_001999|NM_001999.ex.7) 0.0011 0.0029 0.0038 0.0011 0.0029 0.0038 . 0.0862 0.242 0.086 c . . . . . 1.792e-03 . . . 0.0011 0.0017 0.0003 0 0.0018 0.0031 0.0014 0 0.0012 0.0016 0.0003 0 0.0021 0.0026 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.930 . . exonic exonic exonic . . 0.613 0.0010 . . . 0.57 0.43 182 ENSG00000138829 FBN2 FBN2 . . . 1.000 0.747 . 194 0.00298572 64976 189 0.00315074 59986 Uncertain_significance . 0 . 0.292 . . . . D 0.847 0.168 . . 37 . 0.875 . . 0.840 . . . 0.017 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.202 . . 0 0 0 0 1 0 . 0.629 . . 0.769 . . . . . . 0 0.082 . . . . . 0.876 . 0.354 . HET 0.49 rs146849637 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 17.5047 0.00107 . IV.81 IV.81 . 0.870000 . . . . 0.002922 . 0.661 . . IV.81 0.0010 0.0016 0.0005 0 0 0.0014 0.0030 0.0005 0 0.0008 0.0021 0.0012 0 0 0.0006 0.0035 0.0010 . . 0.609 . 2.613 2.613000 . . 0.870000 . . 1.0E-255 1.000 0.715 . 0.888 0.993 . 0.707 . 0.490 2.613 0.824 0.0038 . . rs146849637 rs146849637 1 1538 10 1/0 0,255,255 +rs780761195 5 131309007 G A - ACSL6 16496 Acyl-CoA synthetase long-chain family member 6 NM_001009185.2 -1 6539 2169 NP_001009185.1 substitution synonymous exon GRCh37 131309007 131309007 Chr5(GRCh37):g.131309007G>A 1155 1155 NM_001009185.2:c.1155C>T p.Pro385= p.Pro385Pro 12 604443 -49 5' 99.6933 X.84 0.998453 XI.46 99.6933 X.84 0.998453 11.621 0 AMP-dependent synthetase/ligase rs780761195 yes no Frequency 1 G 0.000000 0 0.000119 0.000000 0.000000 0.000000 0.000000 0.000000 0.000206 0.000233 0.000155 0.000233 33 0 0 0 0 0 26 6 1 276828 24004 34402 10132 18866 30780 126396 25786 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 0 0 0 0 0 26 6 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.984 -0.037 P Pro CCC 0.328 P Pro CCT 0.283 385 255 PASS . . . . . . . . . . . . . . . . 0.41284403 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . 1.0645 . . . . . . . . 1.184e-04 . . . 0 6.649e-05 0 0 0.0003 0.0001 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000164398 ACSL6 ACSL6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs780761195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.58 0 0.0001 0 0 0 0.0003 0.0002 0 0 0 0.0001 0 0 0 0 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 5 133725906 T TTCC - UBE2B 12473 Ubiquitin-conjugating enzyme E2B NM_003337.3 1 2634 459 NP_003328.1 P63146 duplication splice site GRCh37 133725913 133725914 Chr5(GRCh37):g.133725911_133725913dup 331-5 331-3 NM_003337.3:c.331-5_331-3dup p.? p.? 6 5 179095 -2 3' 82.0028 10.0398 0.995025 X.38 78.4863 IX.05 0.990716 XI.97 -0.0203611 rs765369210 yes no Frequency 1 0.000000 0 0.000191 0.000000 0.000000 0.000000 0.000000 0.000000 0.000419 0.000000 0.000000 0.000419 53 0 0 0 0 0 53 0 0 276858 24020 34420 10144 18856 30778 126496 25688 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 0 0 0 0 0 53 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8251 4264 12515 3 0 3 0.00036346 0 0.000239655 0.00036346 0 0.000239655 40 CCT 255 Pass . . . . . . . . . . . . . . . . 0.5106383 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . INTRON(MODIFIER||||UBE2B|mRNA|CODING|NM_003337|) . 0.0002 0.0004 . 0.0002 0.0004 . . . . . . . . . . 1.657e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000119048 UBE2B UBE2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs765369210 . . . . . . . . . . . . . . . . . . . . . . . 0.000240 . . . . . 0 0.0002 0 0 0 0 0.0004 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . . . 1 1538 10 1.I 0,12,29 +. 5 134211055 GA G - TXNDC15 20652 Thioredoxin domain containing 15 NM_024715.3 1 3689 1083 NP_078991.3 Q96J42 deletion intron GRCh37 134211056 134211056 Chr5(GRCh37):g.134211056del 103+836 103+836 NM_024715.3:c.103+836del p.? p.? 1 1 617778 836 5' 86.3702 9.25272 0.980672 X.84 86.3702 9.25272 0.980672 X.84 0 Cryptic Acceptor Strongly Activated 134211062 0.00035 2.26963 0.000841 68.7651 rs556892469 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000000 0.008200 0.001000 0.002000 0.001400 0.006222 0.001511 0.004047 0.000490 0.000087 0.012431 0.008688 0.001135 0.005367 0.012431 961 22 99 4 1 279 522 10 24 154462 14556 24460 8164 11470 22444 60084 8812 4472 0.000104 0.000000 0.000164 0.000000 0.000000 0.000446 0.000033 0.000000 0.000000 8 0 2 0 0 5 1 0 0 945 22 95 4 1 269 520 10 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes A 255 Pass . . . . . . 0.0024 0.0014 0.001 0.002 0.0082 ENSG00000113621:ENST00000546290:exon1:c.5delA:p.E2fs . . . . 0.31325302 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 83 . . INTRON(MODIFIER||||TXNDC15|mRNA|CODING|NM_024715|) . . . . . . . . . . . . . . . . 8.025e-03 . . . 0.0053 0.0115 0.0109 0 0 0.0029 0.0085 0.0148 0.0053 0.0114 0.0111 0 0 0.0030 0.0085 0.0148 frameshift_deletion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000113621 TXNDC15 TXNDC15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs556892469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0067 0.0040 0.0005 0.0001 0.0011 0.0090 0.0066 0.0124 0.0011 0.0044 0.0060 0 0 0.0011 0.0077 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,50 +rs115460101 5 134211057 G T - TXNDC15 20652 Thioredoxin domain containing 15 NM_024715.3 1 3689 1083 NP_078991.3 Q96J42 substitution intron GRCh37 134211057 134211057 Chr5(GRCh37):g.134211057G>T 103+837 103+837 NM_024715.3:c.103+837G>T p.? p.? 1 1 617778 837 5' 86.3702 9.25272 0.980672 X.84 86.3702 9.25272 0.980672 X.84 0 Cryptic Acceptor Strongly Activated 134211062 0.00035 2.99816 0.009735 72.8307 rs115460101 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.008200 0.001000 0.002000 0.001400 0.006222 0.001512 0.004047 0.000490 0.000087 0.012431 0.008688 0.001135 0.005367 0.012431 961 22 99 4 1 279 522 10 24 154452 14548 24460 8164 11470 22444 60086 8808 4472 0.000104 0.000000 0.000164 0.000000 0.000000 0.000446 0.000033 0.000000 0.000000 8 0 2 0 0 5 1 0 0 945 22 95 4 1 269 520 10 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 0.044 255 PASS . . . . . . 0.0024 0.0014 0.001 0.002 0.0082 ENSG00000113621:ENST00000546290:exon1:c.G6T:p.E2D . . . . 0.32911393 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||TXNDC15|mRNA|CODING|NM_024715|) . . . . . . . -0.6617 . . . . . . . . 8.030e-03 . . . 0.0053 0.0115 0.0109 0 0 0.0029 0.0085 0.0148 0.0053 0.0114 0.0111 0 0 0.0030 0.0085 0.0148 nonsynonymous_SNV . . . . . exonic intronic intronic . . . 0.0024 . . . 0.44 0.35 182 ENSG00000113621 TXNDC15 TXNDC15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115460101 . . . . . . . . . . . . II.35 . ENST00000508779 II.17 0.232 . 0.000000 . . . . . . . . . . 0.0021 0.0067 0.0040 0.0005 0.0001 0.0011 0.0090 0.0066 0.0124 0.0011 0.0044 0.0060 0 0 0.0011 0.0077 0.0010 . . . . 0.041 0.041000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.041 . . . . rs115460101 rs115460101 1 1538 10 1/0 0,255,255 +rs1048959 5 137143989 C T - NPY6R 7959 Neuropeptide Y receptor Y6 (pseudogene) NR_002713.3 1 2988 0 substitution exon GRCh37 137143989 137143989 Chr5(GRCh37):g.137143989C>T 537 537 NR_002713.3:n.537C>T 2 601770 277 3' 89.7127 X.34 0.962851 6.08479 89.7127 X.34 0.962851 6.08479 0 Cryptic Acceptor Strongly Activated 137144000 6.57835 0.855797 78.0285 7.73888 0.882522 81.8399 rs1048959 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002278 0.000067 0.000081 0.002260 0.000000 0.000044 0.004424 0.002922 0.003777 0.004424 381 1 2 19 0 1 309 31 18 167226 14910 24592 8408 11544 22552 69846 10608 4766 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 2 0 0 0 0 0 2 0 0 377 1 2 19 0 1 305 31 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.125 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . NPY6R:uc011cyf.2:exon2:c.C90T:p.P30P . . . 0.4074074 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P179|NPY6R|Non-coding_transcript|NON_CODING|NR_002713|NR_002713.ex.2) . . . . . . . 0.3099 . . . . . . . . 1.230e-03 . . . 0 0.0015 0 0 0 0.0039 0 0.0001 0 0.0014 0 0 0.0023 0.0037 0 0.0001 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0002 . . . 0.62 0.38 182 ENSG00000226306 NPY6R NPY6R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1048959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0017 8.42e-05 0.0022 0 0.0034 0.0034 0.0021 4.434e-05 0.0001 0.0046 0 0.0033 0 0.0020 0.0083 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 rs1048959 rs1048959 rs1048959 rs1048959 1 1538 10 1/0 0,255,255 +. 5 138704476 G A - PAIP2 17970 Poly(A) binding protein interacting protein 2 NM_001033112.2 1 1515 384 NP_001028284.1 Q9BPZ3 substitution missense exon GRCh37 138704476 138704476 Chr5(GRCh37):g.138704476G>A 373 373 NM_001033112.2:c.373G>A p.Gly125Arg p.Gly125Arg 4 605604 55 3' 95.5669 X.62 0.993209 8.11259 95.5669 X.62 0.993209 7.69167 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246054 15304 33550 9846 17240 30752 111600 22286 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition G A G>A 0.992 2.223 G Gly GGA 0.246 R Arg AGA 0.205 125 12 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 258.55 13.17 Tolerated 0.6 III.74 255 PASS . . . . . . . . . . . . . . . . 0.38235295 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.495 . @ . . . . . 1 0.924 . . 34.0 . . . . . . . . . . 0.1575 0.221 0.157 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.828 @ . . . . . . ENSG00000120727 PAIP2 PAIP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.276 . . . . D 0.629 0.047 . . 37 . 0.507 . . 0.582 . . . 0.170 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.219 . . 0 0 0 0 0 0 . 0.764 . . 0.680 . . . . . . 2 0.912 . . . . . 0.524 . 0.352 . HET 0.3 . . . . . . . . . . . . . 12.007 . . V.54 V.54 . 0.040000 Q9BPZ3 . . . . . 0.386 . . V.54 0 4.064e-06 0 0 0 0 8.961e-06 0 0 . . . . . . . . . . 0.830 . 1.116 1.116000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.523 0.997 . 0.448 . 0.238 1.116 0.086 . . . . . 1 1538 10 1/0 0,255,255 +. 5 138704476 G A - SLC23A1 10974 Solute carrier family 23 (nucleobase transporters), member 1 NM_152685.3 -1 2361 1809 NP_689898.2 substitution intron GRCh37 138704476 138704476 Chr5(GRCh37):g.138704476G>A *20-1156 *20-1156 NM_152685.3:c.*20-1156C>T p.? p.? 15 14 603790 -1156 3' 87.4982 10.1612 0.895609 5.89478 87.4982 10.1612 0.895609 5.89478 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246054 15304 33550 9846 17240 30752 111600 22286 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition C T C>T 0.992 2.223 255 PASS . . . . . . . . . . . . . . . . 0.38235295 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.495 . @ . . . . . 1 0.924 . . 34.0 . . . . . . . . . . 0.1575 0.221 0.157 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.828 @ . . . . . . ENSG00000120727 PAIP2 PAIP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.276 . . . . D 0.629 0.047 . . 37 . 0.507 . . 0.582 . . . 0.170 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.219 . . 0 0 0 0 0 0 . 0.764 . . 0.680 . . . . . . 2 0.912 . . . . . 0.524 . 0.352 . HET 0.3 . . . . . . . . . . . . . 12.007 . . V.54 V.54 . 0.040000 Q9BPZ3 . . . . . 0.386 . . V.54 0 4.064e-06 0 0 0 0 8.961e-06 0 0 . . . . . . . . . . 0.830 . 1.116 1.116000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.523 0.997 . 0.448 . 0.238 1.116 0.086 . . . . . 1 1538 10 1/0 0,255,255 +. 5 139739919 C T - SLC4A9 11035 Solute carrier family 4, sodium bicarbonate cotransporter, member 9 NM_001258428.1 1 3400 2952 NP_001245357.1 Q96Q91 substitution missense exon GRCh37 139739919 139739919 Chr5(GRCh37):g.139739919C>T 98 98 NM_001258428.1:c.98C>T p.Thr33Ile p.Thr33Ile 1 610207 -133 5' 100 X.83 0.993553 X.49 100 X.83 0.993553 X.49 0 Cryptic Acceptor Strongly Activated 139739929 2.20845 0.012624 62.0523 3.76229 0.026532 65.335 0.000004 0.000070 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000070 1 1 0 0 0 0 0 0 0 241426 14302 33246 9586 17192 29980 109592 22120 5408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 60 Exomes transition C T C>T 0.000 0.286 T Thr ACC 0.361 I Ile ATC 0.481 33 12 5 Olive baboon -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 233.15 53.46 Tolerated 0.06 III.78 255 PASS . . . . . . . . . . . . . . . . 0.60655737 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.070 . @ . . . . . 1 0.111 . . 61.0 . . . . . . . . . . -1.2401 -1.249 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.794 . . exonic exonic exonic . . 0.242 @ . . . . . . ENSG00000113073 SLC4A9 SLC4A9 . . . 0.998 0.360 . . . . . . . Uncertain_significance . 0 . 0.010 . . . . D 0.675 0.059 . . 37 . 0.619 . . 0.561 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.150 . . 0 0 0 0 0 0 . 0.316 . . 0.290 . . . . . . 0 0.342 . . . . . 0.125 . 0.143 . HET 0.05 . . . . . . . . . . . . . IV.57 . . III.62 I.83 . 0.260000 . . . Name\x3dnsv509090 . . 0.123 . . . 6.992e-05 4.142e-06 0 0 0 0 0 0 0 . . . . . . . . . . 0.059 . 0.516 0.516000 . . 0.260000 . . 1.0E-255 0.000 0.063 . 0.016 0.051 . 0.222 . 0.143 0.516 0.143 . . . . . 1 1538 10 1/0 0,255,255 +. 5 139931628 A AGTC - SRA1 11281 Steroid receptor RNA activator 1 NM_001035235.3 -1 1949 711 NP_001030312.2 Q9HD15 insertion in-frame exon GRCh37 139931628 139931629 Chr5(GRCh37):g.139931628_139931629insGTC 328 329 NM_001035235.3:c.328_329insGAC p.Val110delinsGlyLeu p.Val110delinsGlyLeu 3 603819 -62 5' 84.954 9.04032 0.996692 8.20115 84.954 9.04032 0.996692 8.04939 0 Steroid receptor RNA activator-protein/coat protein complex II, Sec31 rs3085220 yes no Frequency/1000G 2 0.434105 GT 2174 0.000011 0.000000 0.000000 0.000000 0.000000 0.000045 0.000012 0.000000 0.000000 0.000045 2 0 0 0 0 1 1 0 0 184728 13250 25366 7748 11510 22190 82712 17638 4314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes 4559 3109 7668 3373 1098 4471 0.42524 0.260994 0.368317 0.42524 0.260994 0.368317 70 COSM1192026 Central nervous system 0.000420 2383 GAC 255 Pass . . . . . . . . . . . ENSG00000213523:ENST00000336283:exon3:c.328_329insGAC:p.V110delinsGL . SRA1:NM_001035235:exon3:c.328_329insGAC:p.V110delinsGL . . 0.30769232 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 78 . . . . . . 0.26 0.36 0.41 . . . . . . . . . . 1.664e-05 . . . 0 2.656e-05 0 0.0002 0 0 0 7.81e-05 0 2.283e-05 0 0.0002 0 0 0 7.86e-05 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000213523 SRA1 SRA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3085220 . . . . . . ID\x3dCOSM1192026\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . 0 1.083e-05 0 0 0 0 1.209e-05 0 4.507e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs3085220 rs3085220 1 1538 10 1.I 0,10,51 +rs202193903 5 139931629 C G - SRA1 11281 Steroid receptor RNA activator 1 NM_001035235.3 -1 1949 711 NP_001030312.2 Q9HD15 substitution missense exon GRCh37 139931629 139931629 Chr5(GRCh37):g.139931629C>G 328 328 NM_001035235.3:c.328G>C p.Val110Leu p.Val110Leu 3 603819 -63 5' 84.954 9.04032 0.996692 8.20115 84.954 9.04032 0.996692 8.01439 0 Steroid receptor RNA activator-protein/coat protein complex II, Sec31 rs202193903 yes no Frequency 1 C 0.000000 0 0.000264 0.000087 0.000254 0.000000 0.000894 0.000733 0.000127 0.000146 0.000286 0.000894 38 1 5 0 8 13 8 2 1 144098 11530 19674 6230 8948 17726 62796 13692 3502 0.210526 0.000000 0.200000 0.000000 0.125000 0.307692 0.125000 0.500000 0.000000 8 0 1 0 1 4 1 1 0 14 1 2 0 5 0 5 0 1 0 0 0 0 0 0 0 0 0 PASS 99 Exomes CM166798 Autoimmunity 27209085 DM? COSM1166160|COSM1166160|COSM1166160 Upper aerodigestive tract|Large intestine|Kidney 0.008842|0.000448|0.001157 1244|2232|1729 transversion G C G>C 0.945 0.286 V Val GTG 0.468 L Leu CTG 0.404 110 12 3 Northern white-cheeked gibbon 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 274.61 0.00 Tolerated 0.79 III.33 251 PASS . . . . . . . . . . . ENSG00000213523:ENST00000336283:exon3:c.G328C:p.V110L . SRA1:NM_001035235:exon3:c.G328C:p.V110L . . 0.3116883 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.179 . @ . . . . . 1 0.091 . . 77.0 . . . . . . . . . . -0.9521 -0.743 -0.952 c . . . . . 1.346e-03 . . . 0.0005 0.0009 0.0012 0.0018 0.0015 0.0007 0 0.0011 0.0006 0.0011 0.0013 0.0018 0.0009 0.0011 0 0.0011 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.236 @ . . . 0.29 0.34 182 ENSG00000213523 SRA1 SRA1 . . . 1.000 0.420 . . . . . . . Uncertain_significance . 0 . 0.087 . . . . T 0.100 0.004 . . 37 . 0.117 . . 0.321 . . . 0.001 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.010 . . . . . 0.068 . 0.012 . HET 0.79 rs202193903 . . . . . . . . . . . . III.03 . . V.75 I.75 . . Q9HD15 . . . . . 0.083 . . . 8.673e-05 0.0003 0.0003 0 0.0009 0.0001 0.0001 0.0003 0.0007 . . . . . . . . . . 0.522 . 0.800 0.800000 . . . . . 1.0E-251 0.047 0.211 . 0.512 0.384 . 0.092 . 0.196 0.800 -0.857 . . . rs202193903 rs202193903 1 1538 10 1/0 0,255,255 +rs201570076 5 140021265 C T - TMCO6 28814 Transmembrane and coiled-coil domains 6 NM_001300980.1 1 1911 1500 NP_001287909.1 substitution missense exon GRCh37 140021265 140021265 Chr5(GRCh37):g.140021265C>T 214 214 NM_001300980.1:c.214C>T p.Arg72Trp p.Arg72Trp 3 16 3' 76.7292 8.98921 0.605518 8.32714 76.7292 8.98921 0.506468 8.22093 -0.0545263 rs201570076 yes no Frequency 1 C 0.000000 0 0.000181 0.000000 0.000029 0.000099 0.000000 0.000000 0.000341 0.000155 0.000155 0.000341 50 0 1 1 0 0 43 4 1 276236 23760 34398 10128 18842 30766 126126 25778 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 0 1 1 0 0 43 4 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8330 3934 12264 4 0 4 0.000479962 0 0.000326052 0.000479962 0 0.000326052 35 transition C T C>T 0.000 -0.763 R Arg CGG 0.207 W Trp TGG 1.000 72 12 7 Zebrafish -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.01 III.35 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.373 . @ . . . . . 1 0.258 . . 63.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . -1.1362 -1.178 -1.136 c . . . . . 2.391e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0002 0 0 0.0002 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.061 @ . . . 0.59 0.39 182 ENSG00000113119 TMCO6 TMCO6 . . . 1.000 0.747 . 14 0.000215464 64976 14 0.000233388 59986 Uncertain_significance . 0 . 0.110 . . . . T 0.351 0.015 . . 37 . 0.195 . . 0.239 . . . 0.430 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.920 . . 0 0 0 0 0 0 . 0.186 . . 0.145 . . . . . . 3 0.465 . . . . . 0.092 . 0.189 . HET 0 rs201570076 . . . . . . . . . . . . 4.0391 0.0 . V.29 -2.42 . 0.080000 . . . . 0.000326 . 0.193 . . . 0 0.0002 2.98e-05 0.0001 0 0.0001 0.0004 0.0002 0 0 0.0002 0 0 0 0.0003 0.0003 0 . . 0.522 . -0.299 -0.299000 . . 0.080000 . . 1.0E-255 0.000 0.063 . 0.312 0.080 . 0.065 . 0.058 -0.299 -0.670 0.0005 . . rs201570076 rs201570076 1 1538 10 1/0 0,255,255 +rs401565 5 140208495 G C - PCDHA1 8663 Protocadherin alpha 1 NM_018900.3 1 5415 2853 NP_061723.1 Q9Y5I3 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2394+40226 2394+40226 NM_018900.3:c.2394+40226G>C p.? p.? 1 1 606307 40226 5' 87.0783 8.62318 0.993879 0.926245 87.0783 8.62318 0.993879 0.926245 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA2 8668 Protocadherin alpha 2 NM_018905.2 1 5360 2847 NP_061728.1 Q9Y5H9 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2388+31558 2388+31558 NM_018905.2:c.2388+31558G>C p.? p.? 1 1 606308 31558 5' 95.331 X.37 0.996319 6.33975 95.331 X.37 0.996319 6.33975 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA3 8669 Protocadherin alpha 3 NM_018906.2 1 5260 2853 NP_061729.1 Q9Y5H8 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2394+25319 2394+25319 NM_018906.2:c.2394+25319G>C p.? p.? 1 1 606309 25319 5' 83.1949 8.39958 0.985487 2.41585 83.1949 8.39958 0.985487 2.41585 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA4 8670 Protocadherin alpha 4 NM_018907.3 1 5365 2844 NP_061730.1 Q9UN74 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2385+19338 2385+19338 NM_018907.3:c.2385+19338G>C p.? p.? 1 1 606310 19338 5' 89.8177 8.54173 0.976668 2.84293 89.8177 8.54173 0.976668 2.84293 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA5 8671 Protocadherin alpha 5 NM_018908.2 1 5218 2811 NP_061731.1 Q9Y5H7 substitution intron GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 2352+4783 2352+4783 NM_018908.2:c.2352+4783G>C p.? p.? 1 1 606311 4783 5' 82.0199 9.53779 0.988376 II.07 82.0199 9.53779 0.988376 II.07 0 rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs401565 5 140208495 G C - PCDHA6 8672 Protocadherin alpha 6 NM_018909.3 1 5430 2853 NP_061732.1 Q9UN73 substitution synonymous exon GRCh37 140208495 140208495 Chr5(GRCh37):g.140208495G>C 819 819 NM_018909.3:c.819G>C p.Ala273= p.Ala273Ala 1 606312 -1576 5' 87.5573 9.72159 0.991134 3.44323 87.5573 9.72159 0.991134 3.44323 0 Cadherin rs401565 yes no Frequency/1000G 2 0.000000 0 0.002796 0.006100 0.004100 0.002000 0.000000 0.000000 0.000740 0.000209 0.000145 0.000099 0.003339 0.001011 0.000726 0.000194 0.000464 0.003339 205 5 5 1 63 31 92 5 3 277036 23964 34410 10152 18868 30670 126716 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 205 5 5 1 63 31 92 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 105 transversion G C G>C 0.000 -3.265 A Ala GCG 0.107 A Ala GCC 0.403 273 255 PASS . . . . . 0.0061 0.0028 . 0.002 . 0.0041 . . . . . 0.46825397 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . -0.5220 . . . . . . . . 1.271e-03 . . . 0.0024 0.0014 0.0003 0.0034 0.0003 0.0008 0.0028 0.0025 0.0028 0.0013 0.0003 0.0034 0.0003 0.0008 0.0029 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.43 0.22 182 ENSG00000081842 PCDHA6 PCDHA6 . . . . . . 29 0.000446319 64976 26 0.000433434 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 7 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0.0002 0.0008 0.0001 0.0001 0.0035 0.0002 0.0008 0.0004 0.0010 0.0002 0.0005 0 0 0.0012 0.0003 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 rs401565 rs401565 rs401565 rs401565 1 1538 10 1/0 0,246,255 +rs148828100 5 140221047 G C - PCDHA1 8663 Protocadherin alpha 1 NM_018900.3 1 5415 2853 NP_061723.1 Q9Y5I3 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2394+52778 2394+52778 NM_018900.3:c.2394+52778G>C p.? p.? 1 1 606307 52778 5' 87.0783 8.62318 0.993879 0.926245 87.0783 8.62318 0.993879 0.926245 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA2 8668 Protocadherin alpha 2 NM_018905.2 1 5360 2847 NP_061728.1 Q9Y5H9 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2388+44110 2388+44110 NM_018905.2:c.2388+44110G>C p.? p.? 1 1 606308 44110 5' 95.331 X.37 0.996319 6.33975 95.331 X.37 0.996319 6.33975 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA3 8669 Protocadherin alpha 3 NM_018906.2 1 5260 2853 NP_061729.1 Q9Y5H8 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2394+37871 2394+37871 NM_018906.2:c.2394+37871G>C p.? p.? 1 1 606309 37871 5' 83.1949 8.39958 0.985487 2.41585 83.1949 8.39958 0.985487 2.41585 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA4 8670 Protocadherin alpha 4 NM_018907.3 1 5365 2844 NP_061730.1 Q9UN74 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2385+31890 2385+31890 NM_018907.3:c.2385+31890G>C p.? p.? 1 1 606310 31890 5' 89.8177 8.54173 0.976668 2.84293 89.8177 8.54173 0.976668 2.84293 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA5 8671 Protocadherin alpha 5 NM_018908.2 1 5218 2811 NP_061731.1 Q9Y5H7 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2352+17335 2352+17335 NM_018908.2:c.2352+17335G>C p.? p.? 1 1 606311 17335 5' 82.0199 9.53779 0.988376 II.07 82.0199 9.53779 0.988376 II.07 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA6 8672 Protocadherin alpha 6 NM_018909.3 1 5430 2853 NP_061732.1 Q9UN73 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2394+10977 2394+10977 NM_018909.3:c.2394+10977G>C p.? p.? 1 1 606312 10977 5' 87.5573 9.72159 0.991134 3.44323 87.5573 9.72159 0.991134 3.44323 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA7 8673 Protocadherin alpha 7 NM_018910.2 1 5221 2814 NP_061733.1 Q9UN72 substitution intron GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 2355+4724 2355+4724 NM_018910.2:c.2355+4724G>C p.? p.? 1 1 606313 4724 5' 82.716 7.79763 0.985223 2.38383 82.716 7.79763 0.985223 2.38383 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs148828100 5 140221047 G C - PCDHA8 8674 Protocadherin alpha 8 NM_018911.2 1 5260 2853 NP_061734.1 Q9Y5H6 substitution synonymous exon GRCh37 140221047 140221047 Chr5(GRCh37):g.140221047G>C 141 141 NM_018911.2:c.141G>C p.Arg47= p.Arg47Arg 1 606314 -2254 5' 87.5573 9.72159 0.995111 1.82499 87.5573 9.72159 0.995111 1.82499 0 Cryptic Acceptor Strongly Activated 140221057 2.28239 0.007194 69.8283 3.33931 0.048932 72.4792 Cadherin Cadherin, N-terminal rs148828100 yes no Frequency/1000G 2 0.000000 0 0.014976 0.025700 0.024500 0.004000 0.006000 0.010100 0.003583 0.014029 0.001833 0.022139 0.000107 0.007458 0.000916 0.000080 0.002501 0.022139 981 331 62 224 2 229 115 2 16 273804 23594 33818 10118 18720 30704 125552 24900 6398 0.000080 0.000339 0.000059 0.000395 0.000000 0.000261 0.000000 0.000000 0.000000 11 4 1 2 0 4 0 0 0 959 323 60 220 2 221 115 2 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8578 4348 12926 20 56 76 0.00232612 0.0127157 0.00584525 0.00232612 0.0127157 0.00584525 44 COSM6232497 Liver 0.001265 2371 transversion G C G>C 0.835 0.286 R Arg CGG 0.207 R Arg CGC 0.190 47 189 PASS . . . . . 0.026 0.015 0.01 0.004 0.006 0.025 . . . . . 0.13178295 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 129.0 . . . 0.013 0.0058 0.0023 0.013 0.0058 0.0023 . I.67 . . . . . . . . 3.521e-03 . . . 0.0135 0.0046 0.0020 0.0002 0 0.0031 0.0071 0.0075 0.0139 0.0036 0.0021 0.0001 0 0.0020 0.0043 0.0076 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0150 . . . 0.26 0.43 182 ENSG00000204962 PCDHA8 PCDHA8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 10 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . 0.005845 . . . . 3 0.0146 0.0035 0.0018 0.0223 0.0001 9.298e-05 0.0009 0.0026 0.0075 0.0131 0.0044 0.0013 0.0169 0 0 0.0008 0.0021 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.013 . . rs148828100 rs148828100 1 1538 10 1/0 0,218,255 +rs191873949 5 140235571 G C - PCDHA1 8663 Protocadherin alpha 1 NM_018900.3 1 5415 2853 NP_061723.1 Q9Y5I3 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+67302 2394+67302 NM_018900.3:c.2394+67302G>C p.? p.? 1 1 606307 67302 5' 87.0783 8.62318 0.993879 0.926245 87.0783 8.62318 0.993879 0.926245 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA10 8664 Protocadherin alpha 10 NM_018901.3 1 5420 2847 NP_061724.1 Q9Y5I2 substitution 5'UTR GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C -63 -63 NM_018901.3:c.-63G>C p.? p.? 1 606316 -2451 5' 85.2503 8.22968 0.742679 0.637565 85.2503 8.22968 0.742679 0.637565 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA2 8668 Protocadherin alpha 2 NM_018905.2 1 5360 2847 NP_061728.1 Q9Y5H9 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2388+58634 2388+58634 NM_018905.2:c.2388+58634G>C p.? p.? 1 1 606308 58634 5' 95.331 X.37 0.996319 6.33975 95.331 X.37 0.996319 6.33975 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA3 8669 Protocadherin alpha 3 NM_018906.2 1 5260 2853 NP_061729.1 Q9Y5H8 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+52395 2394+52395 NM_018906.2:c.2394+52395G>C p.? p.? 1 1 606309 52395 5' 83.1949 8.39958 0.985487 2.41585 83.1949 8.39958 0.985487 2.41585 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA4 8670 Protocadherin alpha 4 NM_018907.3 1 5365 2844 NP_061730.1 Q9UN74 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2385+46414 2385+46414 NM_018907.3:c.2385+46414G>C p.? p.? 1 1 606310 46414 5' 89.8177 8.54173 0.976668 2.84293 89.8177 8.54173 0.976668 2.84293 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA5 8671 Protocadherin alpha 5 NM_018908.2 1 5218 2811 NP_061731.1 Q9Y5H7 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2352+31859 2352+31859 NM_018908.2:c.2352+31859G>C p.? p.? 1 1 606311 31859 5' 82.0199 9.53779 0.988376 II.07 82.0199 9.53779 0.988376 II.07 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA6 8672 Protocadherin alpha 6 NM_018909.3 1 5430 2853 NP_061732.1 Q9UN73 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+25501 2394+25501 NM_018909.3:c.2394+25501G>C p.? p.? 1 1 606312 25501 5' 87.5573 9.72159 0.991134 3.44323 87.5573 9.72159 0.991134 3.44323 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA7 8673 Protocadherin alpha 7 NM_018910.2 1 5221 2814 NP_061733.1 Q9UN72 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2355+19248 2355+19248 NM_018910.2:c.2355+19248G>C p.? p.? 1 1 606313 19248 5' 82.716 7.79763 0.985223 2.38383 82.716 7.79763 0.985223 2.38383 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA8 8674 Protocadherin alpha 8 NM_018911.2 1 5260 2853 NP_061734.1 Q9Y5H6 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+12271 2394+12271 NM_018911.2:c.2394+12271G>C p.? p.? 1 1 606314 12271 5' 87.5573 9.72159 0.995111 1.82499 87.5573 9.72159 0.995111 1.82499 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs191873949 5 140235571 G C - PCDHA9 8675 Protocadherin alpha 9 NM_031857.1 1 5984 2853 NP_114063.1 Q9Y5H5 substitution intron GRCh37 140235571 140235571 Chr5(GRCh37):g.140235571G>C 2394+5097 2394+5097 NM_031857.1:c.2394+5097G>C p.? p.? 1 1 606315 5097 5' 85.2503 8.22968 0.71292 2.22121 85.2503 8.22968 0.71292 2.22121 0 rs191873949 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transversion G C G>C 0.000 -1.812 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.54285717 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic UTR5 . . . 0.0002 . . . 0.5 0.48 182 . . PCDHA10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs191873949 rs191873949 1 1538 10 1/0 0,255,255 +rs201571737 5 140537454 C A - PCDHB17P 14547 Protocadherin beta 17 pseudogene NR_001280.1 1 2411 0 substitution exon GRCh37 140537454 140537454 Chr5(GRCh37):g.140537454C>A 1875 1875 NR_001280.1:n.1875C>A 1 rs201571737 yes no Frequency 1 C 0.000000 0 transversion C A C>A 0.992 0.205 191 PASS . . . . . . . . . . . . . . . . 0.1369863 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 146.0 . . . . . . . . . . 0.7077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . @ . . . 0.52 0.75 182 ENSG00000255622 PCDHB17 PCDHB17P ENST00000539533:c.*114C>A uc003lis.3:c.*114C>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs61742028 rs61742028 rs61742028 rs201571737 1 1538 10 1/0 0,213,255 +rs781890454 5 140590211 T C - PCDHB12 8683 Protocadherin beta 12 NM_018932.3 1 3408 2388 NP_061755.1 Q9Y5F1 substitution missense exon GRCh37 140590211 140590211 Chr5(GRCh37):g.140590211T>C 1732 1732 NM_018932.3:c.1732T>C p.Trp578Arg p.Trp578Arg 1 606338 rs781890454 yes no Frequency 1 C 0.000000 0 0.000894 0.000358 0.000379 0.000600 0.000701 0.004913 0.000374 0.000039 0.000787 0.004913 242 8 13 6 13 150 46 1 5 270568 22358 34302 10000 18548 30530 122992 25484 6354 0.000037 0.000000 0.000000 0.000000 0.000000 0.000328 0.000000 0.000000 0.000000 5 0 0 0 0 5 0 0 0 232 8 13 6 13 140 46 1 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5351161|COSM5351161 Thyroid|Lung 0.006693|0.001206 747|2487 transition T C T>C 0.000 -1.651 W Trp TGG 1.000 R Arg CGG 0.207 578 5 1 -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 101.29 0.00 Tolerated 1 IV.32 good 9.862E-1 0.04258 207 PASS . . . . . . . . . . . . . PCDHB12:NM_018932:exon1:c.T1732C:p.W578R . . 0.19831224 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.074 . . 237.0 . . . . . . . . . . -2.3313 -2.215 -2.331 c . . . . . 1.346e-03 . . . 0.0005 0.0017 0 0.0009 0.0003 0.0005 0.0015 0.0071 0.0005 0.0015 0 0.0007 0.0002 0.0004 0.0030 0.0071 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.015 @ . . . . . . ENSG00000120328 PCDHB12 PCDHB12 . . . 0.654 0.222 . . . . . . . Likely_benign . 0 . . . . . . T 0.198 0.007 . . 37 . 0.019 . . 0.394 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.435 . 0.072 . HET 1 . . . . . . . . . . . . . 10.455 . . 3.IV -6.79 . 1.000000 Q9Y5F1 . . . . . 0.011 . . . 0.0003 0.0010 0.0004 0.0006 0.0007 4.536e-05 0.0004 0.0009 0.0049 0.0005 0.0004 0 0 0.0007 0 0.0006 0 . . 0.283 . -2.628 -2.628000 . . 1.000000 . . 1.0E-207 0.000 0.063 . 0.188 0.233 . 0.004 . 0.033 -2.628 -1.847 . . . . . 1 1538 10 1/0 0,197,255 +rs32954 5 141016276 T C - HDAC3 4854 Histone deacetylase 3 NM_001355039.1 -1 1629 1305 NP_001341968.1 substitution intron GRCh37 141016276 141016276 Chr5(GRCh37):g.141016276T>C 55+27 55+27 NM_001355039.1:c.55+27A>G p.? p.? 1 1 605166 27 5' 81.398 9.19553 0.984733 8.51798 81.398 9.19553 0.984733 9.0611 0 rs32954 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999986 1.000000 1.000000 1.000000 0.999841 1.000000 0.999992 1.000000 1.000000 1.000000 277150 24022 34416 10148 18867 30780 126665 25786 6466 277154 24022 34416 10148 18870 30780 126666 25786 6466 0.999971 1.000000 1.000000 1.000000 0.999682 1.000000 0.999984 1.000000 1.000000 138573 12011 17208 5074 9432 15390 63332 12893 3233 4 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.079 0.448 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 172 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . 0.8806 . . . . . . . . 1.000 . . . 1 1.0000 1 0.9998 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.43 0.41 182 ENSG00000171720 HDAC3 HDAC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs32954 0.989 0.993 . . . . . . . . . . . . . . . . . . . . . . . . . . II.85 1 1.0000 1 1 0.9999 1 1.0000 1 1 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs32954 rs32954 rs32954 rs32954 1 1538 255 1.I 0,0,255 +rs32954 5 141016276 T C - RELL2 26902 RELT-like 2 NM_001130029.1 1 2155 912 NP_001123501.1 Q8NC24 substitution upstream GRCh37 141016276 141016276 Chr5(GRCh37):g.141016276T>C -1089 -1089 NM_001130029.1:c.-1089T>C p.? p.? 1 611213 -1033 5' 62.5857 6.65491 0.37191 9.1047 62.5857 6.65491 0.37191 9.1047 0 rs32954 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999986 1.000000 1.000000 1.000000 0.999841 1.000000 0.999992 1.000000 1.000000 1.000000 277150 24022 34416 10148 18867 30780 126665 25786 6466 277154 24022 34416 10148 18870 30780 126666 25786 6466 0.999971 1.000000 1.000000 1.000000 0.999682 1.000000 0.999984 1.000000 1.000000 138573 12011 17208 5074 9432 15390 63332 12893 3233 4 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.079 0.448 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 172 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . 0.8806 . . . . . . . . 1.000 . . . 1 1.0000 1 0.9998 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.43 0.41 182 ENSG00000171720 HDAC3 HDAC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs32954 0.989 0.993 . . . . . . . . . . . . . . . . . . . . . . . . . . II.85 1 1.0000 1 1 0.9999 1 1.0000 1 1 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs32954 rs32954 rs32954 rs32954 1 1538 255 1.I 0,0,255 +rs200296519 5 147209136 A G - SPINK1 11244 Serine peptidase inhibitor, Kazal type 1 NM_001354966.1 -1 643 240 NP_001341895.1 P00995 substitution intron GRCh37 147209136 147209136 Chr5(GRCh37):g.147209136A>G 87+26 87+26 NM_001354966.1:c.87+26T>C p.? p.? 3 3 167790 26 5' 79.775 8.26664 0.944162 0.649723 79.775 8.26664 0.944162 0 0 rs200296519 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000251 0.000083 0.000087 0.002076 0.000000 0.000000 0.000334 0.000000 0.000156 0.002076 69 2 3 21 0 0 42 0 1 275136 24012 34332 10114 18742 30708 125628 25190 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 2 3 21 0 0 42 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 97 RCV000508019.1 germline clinical testing Benign 1 not specified CS066653 Pancreatitis, chronic 17003641 DM? transition T C T>C 0.000 0.448 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.38157895 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . INTRON(MODIFIER||||SPINK1|mRNA|CODING|NM_003122|) . 0.0002 0.0002 . 0.0002 0.0002 . 0.3623 . . . . . . . . 2.210e-04 . . . 0 0.0003 0 0 0 0.0006 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.47 0.32 182 ENSG00000164266 SPINK1 SPINK1 . . . . . . 11 0.000169293 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200296519 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 6.544e-05 0.0003 8.957e-05 0.0021 0 0 0.0003 0.0002 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200296519 rs200296519 1 1538 10 1/0 0,255,255 +rs142227576 5 147494001 G A - SPINK5 15464 Serine peptidase inhibitor, Kazal type 5 NM_001127698.1 1 3729 3285 NP_001121170.1 substitution missense exon GRCh37 147494001 147494001 Chr5(GRCh37):g.147494001G>A 1964 1964 NM_001127698.1:c.1964G>A p.Gly655Asp p.Gly655Asp 21 605010 -52 5' 74.5116 7.15399 0.930665 1.21517 74.5116 7.15399 0.930665 1.32144 0 Kazal domain rs142227576 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002744 0.000708 0.002502 0.003350 0.000000 0.000000 0.004503 0.001358 0.002791 0.004503 760 17 86 34 0 0 570 35 18 276990 24010 34366 10150 18864 30782 126586 25782 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 758 17 86 34 0 0 568 35 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8248 3828 12076 32 4 36 0.00386473 0.00104384 0.00297226 0.00386473 0.00104384 0.00297226 81 RCV000486022.1 germline clinical testing VUS 1 not specified transition G A G>A 1.000 3.272 G Gly GGC 0.342 D Asp GAC 0.539 655 12 10 Horse -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 353.86 0.00 Deleterious 0 III.85 bad 7.629E-6 0.0001263 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.4659091 . . @ 41 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.717 . @ . . . . . 1 0.930 . . 88.0 . . . 0.001 0.003 0.0039 0.001 0.003 0.0039 . 0.7987 0.755 0.799 c . . . . . 2.523e-03 . . . 0.0006 0.0021 0.0010 0 0.0008 0.0040 0.0028 0 0.0005 0.0024 0.0011 0 0.0011 0.0041 0.0044 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.144 . . exonic exonic exonic . . 0.786 0.0006 . . . 0.32 0.4 182 ENSG00000133710 SPINK5 SPINK5 . . . 0.991 0.323 . 383 0.00589448 64976 380 0.00633481 59986 Uncertain_significance . 0 . 0.342 . . . . T 0.347 0.014 . . 37 . 0.410 . . 0.502 . . . 0.818 0.358 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.769 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.682 . . . . . 0.718 . 0.976 . HET 0 rs142227576 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 15.0935 3.18E-4 . V.42 V.42 . 0.020000 . . . . 0.002972 . 0.462 . . V.42 0.0006 0.0027 0.0024 0.0035 0 0.0013 0.0044 0.0029 0 0.0009 0.0033 0.0060 0 0 0.0020 0.0054 0.0020 . . 0.372 . 2.703 2.703000 . . 0.020000 . . 1.0E-255 0.997 0.399 . 0.888 1.000 . 0.449 . 0.551 2.703 0.917 0.004 . . rs142227576 rs142227576 1 1538 10 1/0 0,255,255 +. (chr5:148042223 C/T) 5 148042223 C T Not on a known gene +rs2342280 5 149584831 A G - SLC6A7 11054 Solute carrier family 6 member 7 NM_014228.4 1 3835 1911 NP_055043.2 Q99884 substitution intron GRCh37 149584831 149584831 Chr5(GRCh37):g.149584831A>G 1534-188 1534-188 NM_014228.4:c.1534-188A>G p.? p.? 13 12 606205 -188 3' 84.5597 4.89536 0.59777 0 84.5597 4.89536 0.59777 0 0 rs2342280 yes no Frequency/1000G 2 G 0.000000 0 0.999800 1.000000 1.000000 1.000000 1.000000 0.998600 0.999966 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 29563 8697 796 232 1620 0 13814 3494 910 29564 8698 796 232 1620 0 13814 3494 910 0.499983 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 14781 4348 398 116 810 0 6907 1747 455 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transition A G A>G 0.000 1.013 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||SLC6A7|mRNA|CODING|NM_014228|) . . . . . . . 0.1484 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.14 0.37 182 ENSG00000011083 SLC6A7 SLC6A7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2342280 0.870 0.819 . . . . . . . . . . . . . . . . . . . . . . . . . . III.44 . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs2342280 rs2342280 rs2342280 rs2342280 1 1538 255 1.I 0,0,255 +rs2342283 5 149584863 A G - SLC6A7 11054 Solute carrier family 6 member 7 NM_014228.4 1 3835 1911 NP_055043.2 Q99884 substitution intron GRCh37 149584863 149584863 Chr5(GRCh37):g.149584863A>G 1534-156 1534-156 NM_014228.4:c.1534-156A>G p.? p.? 13 12 606205 -156 3' 84.5597 4.89536 0.59777 0 84.5597 4.89536 0.59777 0 0 rs2342283 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999966 1.000000 1.000000 1.000000 1.000000 0.000000 0.999927 1.000000 1.000000 1.000000 29511 8690 794 224 1622 0 13775 3494 912 29512 8690 794 224 1622 0 13776 3494 912 0.499983 0.500000 0.500000 0.500000 0.500000 0.000000 0.499964 0.500000 0.500000 14755 4345 397 112 811 0 6887 1747 456 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transition A G A>G 0.000 -0.037 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . INTRON(MODIFIER||||SLC6A7|mRNA|CODING|NM_014228|) . . . . . . . 0.0661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.14 0.26 182 ENSG00000011083 SLC6A7 SLC6A7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2342283 0.989 0.971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs2342283 rs2342283 rs2342283 rs2342283 1 1538 255 1.I 0,0,255 +. 5 149763349 C G - TCOF1 11654 Treacher Collins-Franceschetti syndrome 1 NM_001135243.1 1 5096 4467 NP_001128715.1 Q13428 substitution intron GRCh37 149763349 149763349 Chr5(GRCh37):g.149763349C>G 2859+4054 2859+4054 NM_001135243.1:c.2859+4054C>G p.? p.? 17 17 606847 4054 5' 94.6711 X.63 0.997522 12.0641 94.6711 X.63 0.997522 12.0641 0 rs918698117 yes no Frequency 1 C 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000052 0.000000 0.000000 0.000052 3 0 0 0 0 0 3 0 0 149386 7682 23966 8260 10252 22824 57484 15076 3842 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 99 Exomes transversion C G C>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.5833333 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.2223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000070814 TCOF1 TCOF1 . uc003lrw.3:c.*31C>G NM_001008657:c.*31C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.008e-05 0 0 0 0 5.219e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149847490 5 150696639 G A - SLC36A2 18762 Solute carrier family 36 (proton/amino acid symporter), member 2 NM_181776.2 -1 3421 1452 NP_861441.2 Q495M3 substitution synonymous exon GRCh37 150696639 150696639 Chr5(GRCh37):g.150696639G>A 1191 1191 NM_181776.2:c.1191C>T p.Ala397= p.Ala397Ala 10 608331 11 3' 89.7583 XI.86 0.869584 12.898 89.7583 XI.86 0.839969 XII.81 -0.0113522 Amino acid transporter, transmembrane rs149847490 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.003344 0.000375 0.001570 0.002172 0.000000 0.002668 0.005349 0.002762 0.001706 0.005349 925 9 54 22 0 82 676 71 11 276628 24000 34384 10128 18860 30734 126370 25704 6448 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000078 0.000000 2 0 0 0 0 1 0 1 0 921 9 54 22 0 80 676 69 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4403 12973 30 3 33 0.00348837 0.00068089 0.00253729 0.00348837 0.00068089 0.00253729 40 COSM4159657 Thyroid 0.001339 747 transition C T C>T 1.000 1.093 A Ala GCC 0.403 A Ala GCT 0.263 397 255 PASS . 0.0014 0.0028 . 0.0026 . 0.001 0.0014 . 0.003 0.001 . . SLC36A2:NM_181776:exon10:c.C1191T:p.A397A . . 0.45544556 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A397|SLC36A2|mRNA|CODING|NM_181776|NM_181776.ex.10) 0.0007 0.0025 0.0035 0.0007 0.0025 0.0035 . 0.8776 . . . . . . . . 3.228e-03 . . . 0.0003 0.0027 0.0022 0 0.0016 0.0040 0 0.0022 0.0002 0.0031 0.0022 0 0.002 0.0047 0 0.0022 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.32 0.51 182 ENSG00000186335 SLC36A2 SLC36A2 . . . . . . 215 0.00330891 64976 210 0.00350082 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149847490 . . . . . . ID\x3dCOSM4159657\x3bOCCURENCE\x3d1(thyroid) . . . . . . . . . . . . . . . . 0.002537 . . . . 3 0.0004 0.0034 0.0016 0.0020 0 0.0029 0.0053 0.0013 0.0027 0.0003 0.0032 0.0024 0.0066 0 0.0017 0.0055 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0035 . . rs149847490 rs149847490 1 1538 10 1/0 0,255,255 +rs114785206 5 150722435 C T - SLC36A2 18762 Solute carrier family 36 (proton/amino acid symporter), member 2 NM_181776.2 -1 3421 1452 NP_861441.2 Q495M3 substitution intron GRCh37 150722435 150722435 Chr5(GRCh37):g.150722435C>T 440+14 440+14 NM_181776.2:c.440+14G>A p.? p.? 4 4 608331 14 5' 81.2188 9.23916 0.782263 6.99226 81.2188 9.23916 0.782263 6.32092 0 rs114785206 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.004000 0.001400 0.003590 0.000458 0.001860 0.002168 0.000000 0.002665 0.005787 0.002715 0.002011 0.005787 995 11 64 22 0 82 733 70 13 277136 24028 34408 10146 18866 30774 126664 25786 6464 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000078 0.000000 2 0 0 0 0 1 0 1 0 991 11 64 22 0 80 733 68 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8568 4403 12971 32 3 35 0.00372093 0.00068089 0.00269107 0.00372093 0.00068089 0.00269107 120 transition G A G>A 0.031 -0.037 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0012 0.0014 . 0.004 0.001 . . . . . 0.43076923 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . INTRON(MODIFIER||||SLC36A2|mRNA|CODING|NM_181776|) 0.0007 0.0027 0.0037 0.0007 0.0027 0.0037 . 0.1691 . . . . . . . . 3.481e-03 . . . 0.0003 0.0028 0.0026 0 0.0016 0.0043 0.0014 0.0021 0.0002 0.0033 0.0027 0 0.0018 0.0049 0.0015 0.0021 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.23 0.31 182 ENSG00000186335 SLC36A2 SLC36A2 . . . . . . 238 0.00366289 64976 232 0.00386757 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114785206 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.002691 . . . . . 0.0005 0.0036 0.0018 0.0020 0 0.0029 0.0058 0.0016 0.0027 0.0005 0.0034 0.0036 0.0066 0 0.0014 0.0059 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs114785206 rs114785206 1 1538 10 1/0 0,255,255 +rs142353390 5 150901601 C T - FAT2 3596 FAT tumor suppressor homolog 2 (Drosophila) NM_001447.2 -1 14536 13050 NP_001438.1 Q9NYQ8 substitution missense exon GRCh37 150901601 150901601 Chr5(GRCh37):g.150901601C>T 10553 10553 NM_001447.2:c.10553G>A p.Arg3518His p.Arg3518His 18 604269 47 3' 92.152 9.79149 0.984336 8.39712 92.152 9.79149 0.984336 7.93287 0 Cadherin rs142353390 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004638 0.000209 0.000641 0.004363 0.000000 0.000065 0.005397 0.018530 0.007939 0.018530 1275 5 22 44 0 2 674 477 51 274926 23978 34322 10084 18850 30640 124886 25742 6424 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000112 0.000544 0.000000 14 0 0 0 0 0 7 7 0 1247 5 22 44 0 2 660 463 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4404 12968 36 2 38 0.00418605 0.000453926 0.00292173 0.00418605 0.000453926 0.00292173 51 transition G A G>A 0.008 0.367 R Arg CGT 0.082 H His CAT 0.413 3518 11 6 Dog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 125.70 0.00 Tolerated 0.26 III.83 good 8.902E-1 0.2249 255 PASS . 0.0018 . . 0.01 . 0.0014 0.0014 . 0.005 0.001 ENSG00000086570:ENST00000261800:exon18:c.G10553A:p.R3518H . FAT2:NM_001447:exon18:c.G10553A:p.R3518H . . 0.55279505 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.078 . . 161.0 . . . 0.0005 0.0029 0.0042 0.0005 0.0029 0.0042 . -1.2113 -1.176 -1.211 c . . . . . 4.325e-03 . . . 0.0003 0.0032 0.0006 0 0.0182 0.0049 0.0028 6.158e-05 0.0002 0.0038 0.0007 0 0.0191 0.0049 0.0029 6.193e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.533 . . exonic exonic exonic . . 0.119 0.0014 . . . 0.31 0.26 182 ENSG00000086570 FAT2 FAT2 . . . 0.988 0.314 . 297 0.00457092 64976 290 0.00483446 59986 Likely_benign . 0 . 0.073 . . . . . . . . . 37 . 0.194 . . 0.216 . . . 0.043 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.132 . . 0 0 0 0 0 0 . 0.139 . . 0.104 . . . . . . 1 0.275 . . . . . 0.330 . 0.210 . HET 0.21 rs142353390 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 VIII.74 5.35E-4 ENST00000261800 V.14 -0.35 . 0.560000 . . . . 0.002922 . 0.164 . . . 0.0003 0.0042 0.0006 0.0044 0 0.0185 0.0047 0.0053 6.527e-05 0.0001 0.0082 0.0012 0.0033 0 0.0186 0.0108 0.0224 . . 0.185 . 0.041 0.041000 . . 0.560000 . . 1.0E-255 0.193 0.240 . 0.043 0.190 . 0.335 . 0.074 0.041 0.033 0.01 . . rs142353390 rs142353390 1 1538 10 1/0 0,247,255 +rs142353390 5 150901601 C T - MIR6499 49962 MicroRNA 6499 NR_106752.1 -1 62 0 substitution downstream GRCh37 150901601 150901601 Chr5(GRCh37):g.150901601C>T *47 *47 NR_106752.1:n.*47G>A p.? p.? 1 rs142353390 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004638 0.000209 0.000641 0.004363 0.000000 0.000065 0.005397 0.018530 0.007939 0.018530 1275 5 22 44 0 2 674 477 51 274926 23978 34322 10084 18850 30640 124886 25742 6424 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000112 0.000544 0.000000 14 0 0 0 0 0 7 7 0 1247 5 22 44 0 2 660 463 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4404 12968 36 2 38 0.00418605 0.000453926 0.00292173 0.00418605 0.000453926 0.00292173 51 transition G A G>A 0.008 0.367 255 PASS . 0.0018 . . 0.01 . 0.0014 0.0014 . 0.005 0.001 ENSG00000086570:ENST00000261800:exon18:c.G10553A:p.R3518H . FAT2:NM_001447:exon18:c.G10553A:p.R3518H . . 0.55279505 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.078 . . 161.0 . . . 0.0005 0.0029 0.0042 0.0005 0.0029 0.0042 . -1.2113 -1.176 -1.211 c . . . . . 4.325e-03 . . . 0.0003 0.0032 0.0006 0 0.0182 0.0049 0.0028 6.158e-05 0.0002 0.0038 0.0007 0 0.0191 0.0049 0.0029 6.193e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.533 . . exonic exonic exonic . . 0.119 0.0014 . . . 0.31 0.26 182 ENSG00000086570 FAT2 FAT2 . . . 0.988 0.314 . 297 0.00457092 64976 290 0.00483446 59986 Likely_benign . 0 . 0.073 . . . . . . . . . 37 . 0.194 . . 0.216 . . . 0.043 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.132 . . 0 0 0 0 0 0 . 0.139 . . 0.104 . . . . . . 1 0.275 . . . . . 0.330 . 0.210 . HET 0.21 rs142353390 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 VIII.74 5.35E-4 ENST00000261800 V.14 -0.35 . 0.560000 . . . . 0.002922 . 0.164 . . . 0.0003 0.0042 0.0006 0.0044 0 0.0185 0.0047 0.0053 6.527e-05 0.0001 0.0082 0.0012 0.0033 0 0.0186 0.0108 0.0224 . . 0.185 . 0.041 0.041000 . . 0.560000 . . 1.0E-255 0.193 0.240 . 0.043 0.190 . 0.335 . 0.074 0.041 0.033 0.01 . . rs142353390 rs142353390 1 1538 10 1/0 0,247,255 +rs368278167 5 159462214 C T - TTC1 12391 Tetratricopeptide repeat domain 1 NM_001282500.1 1 1479 879 NP_001269429.1 Q99614 substitution intron GRCh37 159462214 159462214 Chr5(GRCh37):g.159462214C>T 391+7 391+7 NM_001282500.1:c.391+7C>T p.? p.? 3 3 601963 7 5' 91.6164 10.0647 0.994717 1.54432 91.6164 10.0647 0.977868 II.68 -0.00564616 rs368278167 yes no Frequency 1 T 0.000000 0 0.000068 0.000086 0.000095 0.000000 0.000168 0.000139 0.000049 0.000000 0.000000 0.000168 18 2 3 0 3 4 6 0 0 266358 23356 31486 9866 17886 28686 123398 25546 6134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 2 3 0 3 4 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4405 13001 4 1 5 0.000465116 0.000226963 0.000384438 0.000465116 0.000226963 0.000384438 78 transition C T C>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.4390244 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0002 0.0004 0.0005 0.0002 0.0004 0.0005 . -0.0242 . . . . . . . . 8.683e-05 . . . 0 0.0001 0.0002 0.0004 0 7.416e-05 0 0.0002 0 0.0001 0.0002 0.0003 0 5.883e-05 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . 0.6 0.11 182 ENSG00000113312 TTC1 TTC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368278167 . . . . . . . . . . . . . . . . . . . . 0.0003 0.002 Name\x3dnsv830531 0.000384 . . . . . 0 5.523e-05 9.788e-05 0 0.0001 0 3.69e-05 0 0.0001 0.0002 0.0002 0 0 0.0006 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs368278167 rs368278167 1 1538 10 1/0 0,255,255 +. 5 159849526 C A - PTTG1 9690 Pituitary tumor-transforming 1 NM_001282382.1 1 1075 609 NP_001269311.1 O95997 substitution intron GRCh37 159849526 159849526 Chr5(GRCh37):g.159849526C>A 91+116 91+116 NM_001282382.1:c.91+116C>A p.? p.? 1 1 604147 116 5' 78.8739 8.00287 0.960347 2.25745 78.8739 8.00287 0.960347 2.25745 0 transversion C A C>A 0.000 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.2685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000164611 PTTG1 PTTG1 ENST00000517480:c.-69C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv883072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs380101 (chr5:162890953 G/A) 5 162890953 G A Transcript NM_001142556.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) HMMR +rs148648959 5 167880997 T C - WWC1 29435 WW and C2 domain containing 1 NM_001161661.1 1 6739 3360 NP_001155133.1 substitution synonymous exon GRCh37 167880997 167880997 Chr5(GRCh37):g.167880997T>C 2550 2550 NM_001161661.1:c.2550T>C p.Asn850= p.Asn850Asn 18 610533 25 3' 91.0293 4.19844 0.86424 2.27831 91.0293 4.19844 0.86424 2.70639 0 rs148648959 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.007000 0.008600 0.006806 0.001821 0.003765 0.003063 0.000000 0.001044 0.011407 0.006674 0.006069 0.011407 1858 43 128 31 0 32 1413 172 39 272980 23608 34000 10122 18544 30640 123868 25772 6426 0.000125 0.000000 0.000059 0.000000 0.000000 0.000000 0.000210 0.000233 0.000000 17 0 1 0 0 0 13 3 0 1824 43 126 31 0 32 1387 166 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8488 4398 12886 112 8 120 0.0130233 0.00181571 0.00922651 0.0130233 0.00181571 0.00922651 67 transition T C T>C 0.969 -0.360 N Asn AAT 0.464 N Asn AAC 0.536 850 255 PASS . 0.0032 0.01 . 0.01 . 0.0026 0.0086 . 0.007 . . . . . . 0.57575756 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . 0.0018 0.0092 0.013 0.0018 0.0092 0.013 . -0.6597 . . . . . . . . 6.519e-03 . . . 0.0018 0.0058 0.0035 0 0.0053 0.0101 0.0084 0.0009 0.0019 0.0060 0.0035 0 0.0058 0.0096 0.0086 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.56 0.3 182 ENSG00000113645 WWC1 WWC1 . . . . . . 524 0.00806452 64976 511 0.00851865 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148648959 . . . . . . . 0.003205128205128205 0.0 0.008287292817679558 0.0 0.005277044854881266 IX.05 0.001873 . IV.64 -3.38 . . . . . Name\x3dnsv5120 0.009227 . . . . . 0.0018 0.0068 0.0038 0.0032 0 0.0066 0.0115 0.0053 0.0010 0.0019 0.0069 0.0036 0 0 0.0069 0.0106 0.0102 . . . . -0.832 -0.832000 . . . . . 1.0E-255 . . . . . . . . . -0.832 . 0.013 . . rs148648959 rs148648959 1 1538 10 1/0 0,255,255 +rs45574034 5 169812398 G A - KCNIP1 15521 Kv channel interacting protein 1 NM_001278339.1 1 2089 726 NP_001265268.1 substitution upstream GRCh37 169812398 169812398 Chr5(GRCh37):g.169812398G>A -119179 -119179 NM_001278339.1:c.-119179G>A p.? p.? 1 604660 -119240 5' 93.9148 X.81 0.998784 9.46508 93.9148 X.81 0.998784 9.46508 0 rs45574034 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.003100 0.000000 0.008000 0.004300 0.006435 0.001708 0.007409 0.000197 0.000053 0.001202 0.010204 0.004614 0.005569 0.010204 1783 41 255 2 1 37 1292 119 36 277096 24006 34418 10148 18868 30780 126620 25792 6464 0.000065 0.000000 0.000116 0.000000 0.000000 0.000065 0.000079 0.000078 0.000000 9 0 2 0 0 1 5 1 0 1765 41 251 2 1 35 1282 117 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8504 4397 12901 96 9 105 0.0111628 0.00204267 0.0080732 0.0111628 0.00204267 0.0080732 135 transition G A G>A 0.992 0.448 255 PASS . 0.0037 0.01 . 0.01 . 0.0028 0.0043 . 0.008 0.0031 . . KCNMB1:NM_004137:exon2:c.C54T:p.C18C . . 0.4563107 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.002 0.0081 0.011 0.002 0.0081 0.011 . I.03 . . . . . . . . 5.967e-03 . . . 0.0015 0.0060 0.0052 0 0.0039 0.0102 0.0042 0.0012 0.0014 0.0056 0.0050 0 0.0040 0.0089 0.0029 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.32 0.3 182 ENSG00000145936 KCNMB1 KCNMB1 . . . . . . 509 0.00783366 64976 495 0.00825192 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs45574034 . . . . . . . . . . . . . . . . . . . . . . . 0.008073 . . . . II.38 0.0014 0.0065 0.0073 0.0002 0 0.0045 0.0103 0.0060 0.0012 0.0022 0.0062 0.0131 0 0.0006 0.0054 0.0093 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs45574034 rs45574034 rs45574034 rs45574034 1 1538 10 1/0 0,255,255 +rs45574034 5 169812398 G A - KCNMB1 6285 Potassium large conductance calcium-activated channel, subfamily M, beta member 1 NM_004137.3 -1 1562 576 NP_004128.1 Q16558 substitution synonymous exon GRCh37 169812398 169812398 Chr5(GRCh37):g.169812398G>A 54 54 NM_004137.3:c.54C>T p.Cys18= p.Cys18Cys 2 603951 78 3' 71.3449 5.20624 0.046712 6.95544 71.3449 5.20624 0.046712 6.82641 0 Potassium channel, calcium-activated, BK, beta subunit rs45574034 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.003100 0.000000 0.008000 0.004300 0.006435 0.001708 0.007409 0.000197 0.000053 0.001202 0.010204 0.004614 0.005569 0.010204 1783 41 255 2 1 37 1292 119 36 277096 24006 34418 10148 18868 30780 126620 25792 6464 0.000065 0.000000 0.000116 0.000000 0.000000 0.000065 0.000079 0.000078 0.000000 9 0 2 0 0 1 5 1 0 1765 41 251 2 1 35 1282 117 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8504 4397 12901 96 9 105 0.0111628 0.00204267 0.0080732 0.0111628 0.00204267 0.0080732 135 transition C T C>T 0.992 0.448 C Cys TGC 0.552 C Cys TGT 0.448 18 255 PASS . 0.0037 0.01 . 0.01 . 0.0028 0.0043 . 0.008 0.0031 . . KCNMB1:NM_004137:exon2:c.C54T:p.C18C . . 0.4563107 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.002 0.0081 0.011 0.002 0.0081 0.011 . I.03 . . . . . . . . 5.967e-03 . . . 0.0015 0.0060 0.0052 0 0.0039 0.0102 0.0042 0.0012 0.0014 0.0056 0.0050 0 0.0040 0.0089 0.0029 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.32 0.3 182 ENSG00000145936 KCNMB1 KCNMB1 . . . . . . 509 0.00783366 64976 495 0.00825192 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs45574034 . . . . . . . . . . . . . . . . . . . . . . . 0.008073 . . . . II.38 0.0014 0.0065 0.0073 0.0002 0 0.0045 0.0103 0.0060 0.0012 0.0022 0.0062 0.0131 0 0.0006 0.0054 0.0093 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs45574034 rs45574034 rs45574034 rs45574034 1 1538 10 1/0 0,255,255 +rs34907038 5 174948943 C T - SFXN1 16085 Sideroflexin 1 NM_001322977.1 1 4156 969 NP_001309906.1 Q9H9B4 substitution missense exon GRCh37 174948943 174948943 Chr5(GRCh37):g.174948943C>T 796 796 NM_001322977.1:c.796C>T p.Pro266Ser p.Pro266Ser 9 615569 22 3' 81.4434 5.73053 0.746843 0 81.4434 5.73053 0.746843 0 0 Cryptic Acceptor Strongly Activated 174948953 8.4e-05 65.7859 1.15037 0.000177 69.0686 rs34907038 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.002000 0.004300 0.003494 0.000957 0.001687 0.002463 0.000000 0.003673 0.005330 0.002133 0.002939 0.005330 968 23 58 25 0 113 675 55 19 277080 24026 34390 10150 18846 30764 126652 25788 6464 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 3 0 0 0 0 0 3 0 0 962 23 58 25 0 113 669 55 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4403 12953 50 3 53 0.00581395 0.00068089 0.00407504 0.00581395 0.00068089 0.00407504 129 transition C T C>T 0.992 5.532 P Pro CCC 0.328 S Ser TCC 0.220 266 13 12 C. elegans -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 97.78 73.35 Tolerated 0.15 III.40 255 PASS . 0.0014 0.01 . . . 0.0014 0.0043 . 0.002 0.002 ENSG00000164466:ENST00000321442:exon9:c.C796T:p.P266S . SFXN1:NM_022754:exon9:c.C796T:p.P266S . . 0.4528302 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.896 . @ . . . . . 1 0.960 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P266S|SFXN1|mRNA|CODING|NM_022754|NM_022754.ex.9) 0.0007 0.0041 0.0058 0.0007 0.0041 0.0058 . 0.7497 0.669 0.750 c . . . . . 3.299e-03 . . . 0.0008 0.0035 0.0013 0 0.0018 0.0054 0.0042 0.0036 0.0007 0.0031 0.0013 0 0.0020 0.0043 0.0014 0.0035 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.927 0.0014 . . . 0.48 0.34 182 ENSG00000164466 SFXN1 SFXN1 . . . 1.000 0.747 . 259 0.00398609 64976 252 0.00420098 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.643 0.050 . . 37 . 0.564 . . 0.648 . . . 0.968 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.958 . . 0 0 0 0 0 0 . 0.561 . . 0.654 . . . . . . 0 0.682 . . . . . 0.915 . 0.861 . HET 0 rs34907038 . . . . . . . 0.0013736263736263737 0.0 0.008287292817679558 0.0 0.0 18.6782 8.03E-4 ENST00000321442 V.82 V.82 . 0.020000 Q9H9B4 . . Name\x3dnsv469707 0.004075 . 0.930 . . V.82 0.0010 0.0036 0.0017 0.0025 0 0.0021 0.0054 0.0026 0.0037 0.0009 0.0030 0 0 0 0.0026 0.0048 0.0051 . . 0.730 . 2.760 2.760000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.349 0.928 . 0.844 . 0.490 2.760 0.871 0.01 rs34907038 rs34907038 rs34907038 rs34907038 1 1538 10 1/0 0,255,255 +rs748724091 5 175520157 G A - FAM153B 27323 Family with sequence similarity 153, member B NM_001265615.1 1 1794 933 NP_001252544.1 Q9UHL3 substitution intron GRCh37 175520157 175520157 Chr5(GRCh37):g.175520157G>A 29-41 29-41 NM_001265615.1:c.29-41G>A p.? p.? 4 3 -41 3' 76.1535 6.54352 0.888388 4.52824 76.1535 6.54352 0.888388 4.62275 0 rs748724091 yes no Frequency 1 G 0.000000 0 0.000521 0.002106 0.000093 0.000367 0.000164 0.000986 0.000348 0.000064 0.000917 0.002106 79 29 2 2 2 19 21 1 3 151528 13768 21480 5450 12228 19278 60424 15630 3270 0.000119 0.000291 0.000093 0.000000 0.000000 0.000207 0.000132 0.000000 0.000000 9 2 1 0 0 2 4 0 0 61 25 0 2 2 15 13 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.037 203 PASS . . . . . . . . . . . . . . . . 0.17021276 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||FAM153B|mRNA|CODING|NM_001265615|) . . . . . . . -0.4568 . . . . . . . . 5.427e-04 . . . 0.0029 0.0008 0.0004 0 0 0.0004 0 0.0011 0.0020 0.0006 0.0004 0 0 0.0003 0 0.0011 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000182230 FAM153B FAM153B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748724091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0004 9.433e-05 0.0002 8.433e-05 0 0.0003 0.0003 0.0010 0.0034 0.0024 0 0.0125 0.0027 0.0014 0.0012 0.0098 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs4448007 rs4448007 rs4448007 rs4448007 1 1538 10 1/0 0,255,255 +rs62389236 5 175520310 A T - FAM153B 27323 Family with sequence similarity 153, member B NM_001265615.1 1 1794 933 NP_001252544.1 Q9UHL3 substitution intron GRCh37 175520310 175520310 Chr5(GRCh37):g.175520310A>T 108+33 108+33 NM_001265615.1:c.108+33A>T p.? p.? 4 4 33 5' 84.792 6.22623 0.616386 4.50266 84.792 6.22623 0.616386 4.42838 0 Cryptic Acceptor Strongly Activated 175520324 1.98464 0.136354 5.68744 0.481853 80.2764 rs62389236 yes no Frequency/1000G 2 0.000000 0 0.045128 0.015100 0.045000 0.045600 0.086500 0.041800 0.000306 0.000837 0.000064 0.000234 0.000293 0.000000 0.000289 0.000625 0.000378 0.000837 71 18 2 2 5 0 29 13 2 232158 21496 31282 8534 17070 27428 100266 20786 5296 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000096 0.000000 2 0 0 0 0 0 1 1 0 67 18 2 2 5 0 27 11 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -1.732 111 PASS . . . . . 0.015 0.045 0.042 0.046 0.086 0.045 . . . . . 1.0 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 13.0 . . INTRON(MODIFIER||||FAM153B|mRNA|CODING|NM_001265615|) . . . . . . . -0.3776 . . . . . . . . 5.892e-04 . . . 0.0003 0.0002 0 0.0002 0 0.0003 0 0 0.0001 3.311e-05 0 0 0 4.569e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0451 . . . . . . ENSG00000182230 FAM153B FAM153B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62389236 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.056e-05 0 0.0001 6.289e-05 0.0003 9.988e-05 0 0 0.0021 0.0023 0.0031 0.0042 0.0034 0.0034 0.0020 0.0029 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.043 rs62389236 rs62389236 rs62389236 rs370229269 1 1538 255 1.I 0,0,255 +rs756424964 5 175520758 A C - FAM153B 27323 Family with sequence similarity 153, member B NM_001265615.1 1 1794 933 NP_001252544.1 Q9UHL3 substitution synonymous exon GRCh37 175520758 175520758 Chr5(GRCh37):g.175520758A>C 120 120 NM_001265615.1:c.120A>C p.Gly40= p.Gly40Gly 5 12 3' 90.1222 8.83912 0.927645 2.47287 90.1222 8.83912 0.962753 2.77655 0.0126155 rs756424964 yes no Frequency 1 A 0.000000 0 0.001100 0.000648 0.001284 0.004587 0.000678 0.000000 0.001478 0.000000 0.004167 0.004587 10 1 2 1 1 0 4 0 1 9092 1544 1558 218 1476 1268 2706 82 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 1 2 1 1 0 4 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4003456 Haematopoietic and lymphoid tissue 0.000567 3530 transversion A C A>C 0.000 -0.602 G Gly GGA 0.246 G Gly GGC 0.342 40 255 PASS . . . . . . . . . . . . . FAM153B:NM_001265615:exon5:c.A120C:p.G40G . . 0.35714287 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 14.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G40|FAM153B|mRNA|CODING|NM_001265615|NM_001265615.ex.5) . . . . . . . -0.3685 . . . . . . . . 7.599e-04 . . . 0 0 . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.37 182 ENSG00000182230 FAM153B FAM153B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs756424964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0011 0.0013 0.0046 0.0007 0 0.0015 0.0042 0 0 0 . . . 0 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62389239 rs62389239 rs62389239 rs62389239 1 1538 10 1/0 0,255,255 +rs4078316 5 175535641 G A - FAM153B 27323 Family with sequence similarity 153, member B NM_001265615.1 1 1794 933 NP_001252544.1 Q9UHL3 substitution missense exon GRCh37 175535641 175535641 Chr5(GRCh37):g.175535641G>A 665 665 NM_001265615.1:c.665G>A p.Gly222Glu p.Gly222Glu 16 34 3' 82.2322 6.29741 0.962211 IV.39 82.2322 6.29741 0.962211 5.11769 0 rs4078316 no no 0 0.000000 0 0.000085 0.000392 0.000030 0.000000 0.000054 0.000033 0.000090 0.000000 0.000000 0.000392 23 9 1 0 1 1 11 0 0 269450 22940 33558 9956 18358 30176 122680 25538 6244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 9 1 0 1 1 11 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5956862 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.000 -1.167 G Gly GGG 0.250 E Glu GAG 0.583 222 5 3 Orangutan -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 174.09 0.00 Tolerated 1 III.67 196 PASS . . . . . . . . . . . . . FAM153B:NM_001265615:exon16:c.G665A:p.G222E . . 0.15068494 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.008 . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G222E|FAM153B|mRNA|CODING|NM_001265615|NM_001265615.ex.16) . . . . . . . -1.4927 -1.705 -1.493 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.071 @ . . . 0.45 0.31 182 ENSG00000182230 FAM153B FAM153B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.045 0.002 . . 37 . 0.180 . . 0.092 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.630 . . 0 0 0 0 0 0 . 0.550 . . 0.488 . . . . . . 0 0.010 . . . . . 0.153 . 0.163 . HET 1 . . . . . . . . . . . . . V.88 . . 0.965 -1.93 . 1.000000 P0C7A2 . . . . . 0.006 . . . 0 4.14e-06 0 0 0 0 0 0 3.314e-05 0.0011 0.0008 0.0013 0 0.0007 0 0.0008 0 . . 0.133 . -1.152 -1.152000 . . 1.000000 . . 1.0E-196 0.000 0.063 . 0.016 0.083 . 0.023 . 0.002 -1.152 -2.009 . . rs4078316 rs4078316 rs4078316 1 1538 10 1/0 0,243,255 +rs372138606 5 176005131 G A - CDHR2 18231 Cadherin-related family member 2 NM_001171976.1 1 4303 3933 NP_001165447.1 Q9BYE9 substitution intron GRCh37 176005131 176005131 Chr5(GRCh37):g.176005131G>A 1574+35 1574+35 NM_001171976.1:c.1574+35G>A p.? p.? 15 15 35 5' 81.8924 9.08182 0.988041 9.21229 81.8924 9.08182 0.988041 8.94176 0 Cryptic Donor Strongly Activated 176005128 7.23301 0.683424 76.7703 VIII.68 0.980361 81.1326 rs372138606 yes no Frequency 1 G 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000051 0.000041 0.000000 0.000051 7 0 0 0 0 0 6 1 0 259364 22882 33080 9258 18010 28398 117532 24112 6092 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4402 12999 1 0 1 0.000116306 0 7.69231e-05 0.000116306 0 7.69231e-05 24 transition G A G>A 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.5194805 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.6955 . . . . . . . . 3.162e-05 . . . 0 2.73e-05 0 0 0 5.829e-05 0 0 0 2.333e-05 0 0 0 4.461e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.3 182 ENSG00000074276 CDHR2 CDHR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372138606 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 2.627e-05 0 0 0 4.85e-05 4.877e-05 0 0 0 3.23e-05 0 0 0 0 6.667e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs372138606 rs372138606 1 1538 10 1/0 0,255,255 +. 5 176026119 TCTCAAAGACCCAGGATCCTCCTTC T - GPRIN1 24835 G protein regulated inducer of neurite outgrowth 1 NM_052899.2 -1 4208 3027 NP_443131.2 Q7Z2K8 deletion in-frame exon GRCh37 176026120 176026143 Chr5(GRCh37):g.176026120_176026143del 693 716 NM_052899.2:c.693_716del p.Glu233_Lys240del p.Glu233_Lys240del 2 611239 736 3' 88.9747 X.57 0.937305 9.12095 88.9747 X.57 0.937305 9.12095 0 rs142779818 yes no Frequency/1000G 2 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000087 0.000050 0.000027 0.000000 0.000000 0.000087 4 0 0 0 1 1 2 0 0 166964 10544 25488 6266 11536 20126 74222 15038 3744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 157 Exomes 6607 3329 9936 1529 863 2392 0.18793 0.205868 0.19403 0.18793 0.205868 0.19403 123 COSM1436171|COSM1436171|COSM1436171 Urinary tract|Large intestine|Haematopoietic and lymphoid tissue 0.001488|0.001345|0.000567 672|2231|3530 GAAGGAGGATCCTGGGTCTTTGAG 255 Pass . . . . . . . . . . . ENSG00000169258:ENST00000303991:exon2:c.693_716del:p.231_239del . GPRIN1:NM_052899:exon2:c.693_716del:p.231_239del . . 0.39130434 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 69 . . . . . . . . . . . . . . . . . . . 8.091e-06 . . . 0 1.724e-05 0 0.0004 0 0 0 0 . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000169258 GPRIN1 GPRIN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142779818 . . . . . . . . . . . . . . . . . . . . . . . 0.195846 . . . . . 0 2.396e-05 0 0 8.669e-05 0 2.695e-05 0 4.969e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs142779818 rs142779818 1 1538 10 1.I 0,12,41 +rs79403503 5 176026146 C T - GPRIN1 24835 G protein regulated inducer of neurite outgrowth 1 NM_052899.2 -1 4208 3027 NP_443131.2 Q7Z2K8 substitution synonymous exon GRCh37 176026146 176026146 Chr5(GRCh37):g.176026146C>T 690 690 NM_052899.2:c.690G>A p.Pro230= p.Pro230Pro 2 611239 733 3' 88.9747 X.57 0.937305 9.12095 88.9747 X.57 0.937305 9.12095 0 rs79403503 yes no Frequency/1000G 2 C 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000046 0.000183 0.000046 5 0 0 0 0 0 3 1 1 245248 15262 33546 9838 17234 30752 111272 21890 5454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 3 1 1 0 0 0 0 0 0 0 0 0 PASS 114 Exomes COSM3761127|COSM3761127|COSM3761127|COSM3761127|COSM3761127 Thyroid|Liver|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.001339|0.000422|0.000448|0.000578|0.000283 747|2371|2231|1729|3530 transition G A G>A 0.000 -0.360 P Pro CCG 0.115 P Pro CCA 0.274 230 255 PASS . . . . . . . . . . . ENSG00000169258:ENST00000303991:exon2:c.G690A:p.P230P . GPRIN1:NM_052899:exon2:c.G690A:p.P230P . . 0.4084507 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . 0.0853 . . . . . . . . 6.482e-05 . . . 0 6.326e-05 0 0 0.0004 6.857e-05 0.0021 0 0 8.079e-05 0 0 0.0002 0.0001 0.0020 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.21 182 ENSG00000169258 GPRIN1 GPRIN1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs79403503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.039e-05 0 0 0 4.568e-05 2.696e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79403503 rs79403503 1 1538 10 1/0 0,255,255 +rs76216490 5 177158552 G T - FAM153A 29940 Family with sequence similarity 153 member A NM_173663.4 -1 1936 933 NP_775934.3 Q9UHL3 substitution intron GRCh37 177158552 177158552 Chr5(GRCh37):g.177158552G>T 631+18 631+18 NM_173663.4:c.631+18C>A p.? p.? 16 16 18 5' 67.8112 6.57933 0.611244 5.21314 67.8112 6.57933 0.611244 4.73005 0 rs76216490 yes no Frequency/1000G 2 T 0.000000 0 0.092053 0.063500 0.095100 0.114100 0.109300 0.085000 0.000192 0.000000 0.000043 0.000535 0.000168 0.000000 0.000272 0.000212 0.000464 0.000535 36 0 1 3 2 0 24 4 2 187716 16238 23122 5606 11878 19600 88134 18828 4310 0.000107 0.000000 0.000000 0.000357 0.000000 0.000000 0.000136 0.000212 0.000464 10 0 0 1 0 0 6 2 1 15 0 1 1 2 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6821 3494 10315 295 158 453 0.0414559 0.043264 0.0420691 0.0414559 0.043264 0.0420691 72 transversion C A C>A 0.000 -2.861 111 PASS 0.2 0.32 0.35 0.41 0.32 0.064 0.092 0.085 0.11 0.11 0.095 . . . . . 1.0 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . INTRON(MODIFIER||||FAM153A|mRNA|CODING|NM_173663|) 0.043 0.042 0.042 0.043 0.042 0.042 . -0.8225 . . . . . . . . 2.221e-03 . . . 0 0.0003 0 0.0003 0 0.0005 0 0 0 2.746e-05 0 0 0 5.264e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0921 . . . 0.37 0.33 182 ENSG00000170074 FAM153A FAM153A . . . . . . 12858 0.197888 64976 11830 0.197213 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76216490 0.196 0.188 . . . . . . . . . . . . . . . . . . . . . 0.042069 . . . . . 0 0.0001 4.435e-05 0.0006 0.0002 0.0002 0.0002 0 0 0 0.0006 0 0 0 0 0.0009 0.0032 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.41 . . rs76216490 rs76216490 1 1538 255 1.I 0,0,255 +. 5 177161376 C T - FAM153A 29940 Family with sequence similarity 153 member A NM_173663.4 -1 1936 933 NP_775934.3 Q9UHL3 substitution splice site GRCh37 177161376 177161376 Chr5(GRCh37):g.177161376C>T 529+5 529+5 NM_173663.4:c.529+5G>A p.? p.? 14 14 5 5' 77.6489 VIII.57 0.992297 5.1242 65.4974 II.32 0.577834 0 -0.421568 0.000035 0.000000 0.000000 0.000000 0.000172 0.000000 0.000000 0.000000 0.000717 0.000172 2 0 0 0 1 0 0 0 1 57304 4866 8572 1102 5828 5112 22278 8152 1394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transition G A G>A 0.028 0.932 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . INTRON(MODIFIER||||FAM153A|mRNA|CODING|NM_173663|) . . . . . . . -0.1494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000170074 FAM153A FAM153A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.782 . . . . . . . 0 3.49e-05 0 0 0.0002 0 0 0.0007 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs79590875 5 177171823 G T - FAM153A 29940 Family with sequence similarity 153 member A NM_173663.4 -1 1936 933 NP_775934.3 Q9UHL3 substitution intron GRCh37 177171823 177171823 Chr5(GRCh37):g.177171823G>T 108+66 108+66 NM_173663.4:c.108+66C>A p.? p.? 5 5 66 5' 84.792 6.22623 0.616386 4.47541 84.792 6.22623 0.616386 4.42838 0 rs79590875 no no 0 T 0.000000 0 0.000110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000209 0.000000 0.000000 0.000209 2 0 0 0 0 0 2 0 0 18174 4410 524 168 902 0 9586 1988 596 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transversion C A C>A 0.000 -0.117 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||FAM153A|mRNA|CODING|NM_173663|) . . . . . . . -0.2729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.22 182 ENSG00000170074 FAM153A FAM153A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.022 . . rs79590875 rs79590875 1 1538 255 1.I 0,0,255 +rs558959239 5 177172009 C T - FAM153A 29940 Family with sequence similarity 153 member A NM_173663.4 -1 1936 933 NP_775934.3 Q9UHL3 substitution intron GRCh37 177172009 177172009 Chr5(GRCh37):g.177172009C>T 29-41 29-41 NM_173663.4:c.29-41G>A p.? p.? 5 4 -41 3' 76.1535 6.54352 0.888388 4.52824 76.1535 6.54352 0.888388 4.62275 0 rs558959239 yes no Frequency/1000G 2 C 0.000000 0 0.028355 0.068800 0.006100 0.002000 0.021900 0.030300 0.000605 0.003912 0.000000 0.000377 0.000145 0.002188 0.000204 0.000000 0.000982 0.003912 53 21 0 1 1 20 8 0 2 87564 5368 11838 2654 6894 9140 39180 10454 2036 0.000274 0.002608 0.000000 0.000000 0.000000 0.000875 0.000051 0.000000 0.000000 12 7 0 0 0 4 1 0 0 29 7 0 1 1 12 6 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.570 200 PASS . . . . . 0.069 0.028 0.03 0.002 0.022 0.0061 . . . . . 0.1594203 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . INTRON(MODIFIER||||FAM153A|mRNA|CODING|NM_173663|) . . . . . . . -0.4743 . . . . . . . . 6.151e-04 . . . 0.0062 0.0012 0 0.0005 0 0.0002 0 0.0026 0.0075 0.0012 0 0.0005 0 0.0004 0 0.0027 . . . . . . intronic intronic intronic . . . 0.0284 . . . 0.31 0.26 182 ENSG00000170074 FAM153A FAM153A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558959239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0006 0 0.0004 0.0001 0 0.0002 0.0010 0.0022 0.0074 0.0025 0 0 0 0 0.0017 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs4448007 rs4448007 rs4448007 rs4448007 1 1538 10 1/0 0,248,255 +. 5 177465775 G C - FAM153C 33936 Family with sequence similarity 153 member C NM_001355471.1 1 1081 435 NP_001342400.1 Q494X1 substitution intron GRCh37 177465775 177465775 Chr5(GRCh37):g.177465775G>C 29-64 29-64 NM_001355471.1:c.29-64G>C p.? p.? 4 3 -64 3' 76.1535 6.54352 0.888388 4.52824 76.1535 6.54352 0.888388 4.42071 0 0.002356 0.008354 0.002874 0.012500 0.000000 0.000000 0.000488 0.000000 0.000000 0.012500 24 20 1 1 0 0 2 0 0 10188 2394 348 80 300 0 4102 2594 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 20 1 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transversion G C G>C 0.000 -2.135 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FAM153C|Non-coding_transcript|NON_CODING|NR_038353|) . . . . . . . -0.8034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.32 182 ENSG00000204677 FAM153C FAM153C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0084 0.0024 0.0029 0.0125 0 0 0.0005 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs62389235 rs62389235 rs62389235 rs62389235 1 1538 10 1/0 0,255,255 +rs769831117 5 177482586 C T - FAM153C 33936 Family with sequence similarity 153 member C NM_001355471.1 1 1081 435 NP_001342400.1 Q494X1 substitution downstream GRCh37 177482586 177482586 Chr5(GRCh37):g.177482586C>T *8464 *8464 NM_001355471.1:c.*8464C>T p.? p.? 10 8558 3' 86.7284 X.68 0.787359 9.50736 86.7284 X.68 0.787359 9.50736 0 rs769831117 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8146 350 120 258 50 0 6520 640 208 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 203 Genomes transition C T C>T 0.000 0.851 187 PASS . . . . . . . . . . . . . . . . 0.12820514 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 117.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1023 . . . . . . . . 7.985e-06 . . . 0.0001 1.189e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . . . . ENSG00000218227 . . . dist\x3d6498\x3bdist\x3d57970 dist\x3d6498\x3bdist\x3d57970 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs769831117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +rs372220561 5 177482594 C T - FAM153C 33936 Family with sequence similarity 153 member C NM_001355471.1 1 1081 435 NP_001342400.1 Q494X1 substitution downstream GRCh37 177482594 177482594 Chr5(GRCh37):g.177482594C>T *8472 *8472 NM_001355471.1:c.*8472C>T p.? p.? 10 8566 3' 86.7284 X.68 0.787359 9.50736 86.7284 X.68 0.787359 9.50736 0 Cryptic Acceptor Strongly Activated 177482603 5.05777 0.014451 71.0361 VI.76 0.043412 73.748 rs372220561 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000024 0.000401 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000401 6 6 0 0 0 0 0 0 0 248890 14954 33622 10022 17166 30746 116636 20124 5620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 6 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8244 3858 12102 0 2 2 0 0.000518135 0.000165235 0 0.000518135 0.000165235 25 transition C T C>T 0.008 0.851 193 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . INTERGENIC(MODIFIER||||||||) 0.0005 0.0002 . 0.0005 0.0002 . . -0.0268 . . . . . . . . 3.992e-05 . . . 0.0005 4.716e-05 0 0 0 0 0 0 0.0004 2.96e-05 0 0 0 0 0 0 . . . . . . upstream intergenic intergenic . . . 0.0002 . . . 0.4 0.18 182 ENSG00000218227 . . . dist\x3d6506\x3bdist\x3d57962 dist\x3d6506\x3bdist\x3d57962 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs372220561 . . . . . . . . . . . . . . . . . . . . . . . 0.000165 . . . . . 0.0003 1.662e-05 0 0 0 0 0 0 0 0.0056 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . 0.0005 . . rs372220561 rs372220561 1 1538 10 1/0 0,222,255 +. 5 177482657 GCAA G - FAM153C 33936 Family with sequence similarity 153 member C NM_001355471.1 1 1081 435 NP_001342400.1 Q494X1 deletion downstream GRCh37 177482658 177482660 Chr5(GRCh37):g.177482658_177482660del *8536 *8538 NM_001355471.1:c.*8536_*8538del p.? p.? 10 8630 3' 86.7284 X.68 0.787359 9.50736 86.7284 X.68 0.787359 9.50736 0 Cryptic Acceptor Strongly Activated 177482665 8,00E-06 0.276163 0.000169 62.7928 CAA 255 Pass . . . . . . . . . . . . . . . . 0.10185185 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 108 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . . . . . . . . ENSG00000218227 . . . dist\x3d6570\x3bdist\x3d57896 dist\x3d6570\x3bdist\x3d57896 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,99 +rs546192999 (chr5:178950347 C/T) 5 178950347 C T Not on a known gene +. 5 179071158 G A - C5orf60 27753 Chromosome 5 open reading frame 60 NM_001305388.1 -1 1220 846 NP_001292317.1 substitution intron GRCh37 179071158 179071158 Chr5(GRCh37):g.179071158G>A 223-71 223-71 NM_001305388.1:c.223-71C>T p.? p.? 2 1 -71 3' 93.5697 XII.99 0.989308 8.42422 93.5697 XII.99 0.989308 8.63055 0 Cryptic Acceptor Strongly Activated 179071140 2.20655 0.014916 73.976 2.80382 0.018013 73.976 0.000034 0.000000 0.001244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001244 1 0 1 0 0 0 0 0 0 29094 8084 804 284 1366 0 14226 3408 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 26 Genomes transition C T C>T 0.000 -2.054 223 PASS . . . . . . . . . . . . . . . . 0.2236842 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . -0.5343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000204661 C5orf60 C5orf60 ENST00000513845:c.*61C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.437e-05 0.0012 0 0 0 0 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs570108607 5 179548267 C A - RASGEF1C 27400 RasGEF domain family, member 1C NM_175062.3 -1 2216 1401 NP_778232.2 Q8N431 substitution intron GRCh37 179548267 179548267 Chr5(GRCh37):g.179548267C>A 715-118 715-118 NM_175062.3:c.715-118G>T p.? p.? 7 6 -118 3' 81.1813 X.52 0.931631 III.88 81.1813 X.52 0.931631 III.88 0 rs570108607 yes no Frequency 1 C 0.000000 0 0.001002 0.000115 0.000000 0.000000 0.000000 0.000000 0.001535 0.001435 0.002045 0.001535 31 1 0 0 0 0 23 5 2 30934 8728 836 302 1622 0 14984 3484 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 1 0 0 0 0 23 5 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion G T G>T 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||RASGEF1C|mRNA|CODING|NM_175062|) . . . . . . . 0.0684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146090 RASGEF1C RASGEF1C . . . . . . 103 0.0015852 64976 99 0.00165039 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs570108607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0010 0 0 0 0.0014 0.0015 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs868484653 5 180046426 C G - FLT4 3767 Fms related tyrosine kinase 4 NM_182925.4 -1 5857 4092 NP_891555.2 P35916 substitution intron GRCh37 180046426 180046426 Chr5(GRCh37):g.180046426C>G 2648-60 2648-60 NM_182925.4:c.2648-60G>C p.? p.? 19 18 136352 -60 3' 83.2053 6.30324 0.68129 7.06544 83.2053 6.30324 0.68129 6.86039 0 rs868484653 no no 0 C 0.000000 0 transversion G C G>C 0.000 2.304 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 1.0971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000037280 FLT4 FLT4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr5:180747759 C/T) 5 180747759 C T Not on a known gene +. (chr5:180747764 G/A) 5 180747764 G A Not on a known gene +. (chr5:180747773 C/G) 5 180747773 C G Not on a known gene +. (chr5:180751128 C/A) 5 180751128 C A Not on a known gene +. (chr5:180751540 T/A) 5 180751540 T A Not on a known gene +. (chr5:180751541 T/C) 5 180751541 T C Not on a known gene +. (chr5:180751549 G/A) 5 180751549 G A Not on a known gene +. (chr5:180751581 A/G) 5 180751581 A G Not on a known gene +. (chr5:180751661 C/G) 5 180751661 C G Not on a known gene +. (chr5:180751742 T/C) 5 180751742 T C Not on a known gene +. (chr5:180751967 G/T) 5 180751967 G T Not on a known gene +. (chr5:180752218 T/C) 5 180752218 T C Not on a known gene +. (chr5:180753052 G/A) 5 180753052 G A Not on a known gene +. 5 180795216 G A - OR4F3 8300 Olfactory receptor, family 4, subfamily F, member 3 NM_001005224.1 1 939 939 NP_001005224.1 Q6IEY1 substitution missense exon GRCh37 180795216 180795216 Chr5(GRCh37):g.180795216G>A 929 929 NM_001005224.1:c.929G>A p.Arg310Lys p.Arg310Lys 1 COSM5426378|COSM5426378 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.000 -0.763 R Arg AGG 0.207 K Lys AAG 0.575 310 12 1 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 148.67 0.00 Tolerated 1 IV.32 good 9.973E-1 0.1647 178 PASS . . . . . . . . . . . ENSG00000230178:ENST00000456475:exon1:c.G929A:p.R310K OR4F16:uc011dhm.2:exon1:c.G929A:p.R310K . . . 0.11111111 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.011 . . 45.0 . . . . . . . . . . -1.2516 -1.448 -1.252 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.079 @ . . . 0.39 0.25 182 ENSG00000230178 OR4F16 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.143 . . . . D 0.910 0.304 . . 37 . 0.000 . . 0.012 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.087 . 0.016 . LowAF 1 . . . . . . . . . . . . . III.26 . ENST00000456475 2.IV -1.61 . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.196 -1.196000 . . . . . 1.0E-178 0.001 0.137 . 0.269 0.851 . 0.080 . 0.059 -1.196 -0.066 . rs388753 rs388753 rs388753 rs388753 1 1538 10 1/0 0,255,255 +. (chr5:180893320 A/G) 5 180893320 A G Not on a known gene +. (chr5:180893388 T/A) 5 180893388 T A Not on a known gene +. (chr5:180899202 G/T) 5 180899202 G T Not on a known gene +rs7742004 (chr6:152749 G/C) 6 152749 G C Not on a known gene +. (chr6:707219 CACAT/C) 6 707219 CACAT C Not on a known gene +rs200719704 6 2990119 A G - LINC01011 33812 Long intergenic non-protein coding RNA 1011 NR_026855.1 1 2809 0 substitution exon GRCh37 2990119 2990119 Chr6(GRCh37):g.2990119A>G 1523 1523 NR_026855.1:n.1523A>G 2 1458 3' 0 0 0.000489 0 0 0 0.000489 0 0 Cryptic Acceptor Strongly Activated 2990130 2.68772 0.004217 66.3134 3.53829 0.010099 66.3845 rs200719704 no no 0 G 0.000000 0 transition A G A>G 0.024 -1.005 246 PASS . . . . . . . . . . . . . . . . 0.3043478 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 23.0 . . . . . . . . . . 0.6257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . 0.65 0.47 182 . DKFZP686I15217 LINC01011 . uc003mur.5:c.*43A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200719704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149760129 6 4073691 C G - FAM217A 21362 Family with sequence similarity 217, member A NM_173563.2 -1 2270 1527 NP_775834.2 Q8IXS0 substitution synonymous exon GRCh37 4073691 4073691 Chr6(GRCh37):g.4073691C>G 210 210 NM_173563.2:c.210G>C p.Ser70= p.Ser70Ser 5 -25 5' 80.2281 6.70762 0.81831 0 80.2281 6.70762 0.81831 0 0 Cryptic Acceptor Strongly Activated 4073682 3.40467 0.01743 68.5961 5.65811 0.110855 71.337 rs149760129 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.005487 0.000083 0.000873 0.004039 0.000000 0.000098 0.003910 0.034562 0.008826 0.034562 1519 2 30 41 0 3 495 891 57 276860 24020 34362 10150 18818 30688 126584 25780 6458 0.000166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.001552 0.000000 23 0 0 0 0 0 3 20 0 1473 2 30 41 0 3 489 851 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4406 12981 23 0 23 0.00267504 0 0.00176869 0.00267504 0 0.00176869 89 transversion G C G>C 0.118 -0.037 S Ser TCG 0.056 S Ser TCC 0.220 70 255 PASS . 0.0027 . . 0.01 . 0.001 . . 0.005 . . . FAM217A:NM_173563:exon5:c.G210C:p.S70S . . 0.33333334 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 21.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcC|S70|FAM217A|mRNA|CODING|NM_173563|NM_173563.ex.5) . 0.0018 0.0027 . 0.0018 0.0027 . 0.2076 . . . . . . . . 4.854e-03 . . . 0 0.0029 0.0003 0 0.0311 0.0033 0.0028 6.064e-05 0 0.0044 0.0004 0 0.0333 0.0043 0.0043 6.099e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.35 0.28 182 ENSG00000145975 FAM217A FAM217A . . . . . . 287 0.00441702 64976 282 0.0047011 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149760129 . . . . . . . . . . . . . . . . . . . . . . . 0.001769 . . . . . 6.538e-05 0.0050 0.0009 0.0040 0 0.0348 0.0031 0.0066 9.776e-05 0.0001 0.0092 0.0012 0.0066 0 0.0330 0.0096 0.0214 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149760129 rs149760129 1 1538 10 1/0 0,255,255 +. 6 7586137 C T - DSP 3052 Desmoplakin NM_004415.3 1 9796 8616 NP_004406.2 P15924 substitution 3'UTR GRCh37 7586137 7586137 Chr6(GRCh37):g.7586137C>T *26 *26 NM_004415.3:c.*26C>T p.? p.? 24 125647 3263 3' 93.9735 X.96 0.984927 9.20977 93.9735 X.96 0.984927 9.20977 0 rs957652496 no no 0 C 0.000000 0 transition C T C>T 0.102 0.528 255 PASS . . . . . . . . . . . . . . . . 0.6363636 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . . . . . . . . . 0.8737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000096696 DSP DSP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 10647323 C T - GCNT6 21623 Glucosaminyl (N-acetyl) transferase 6 ENST00000417671.1 1 1176 1176 substitution missense exon GRCh37 10647323 10647323 Chr6(GRCh37):g.10647323C>T 998 998 ENST00000417671.1:c.998C>T p.Pro333Leu p.Pro333Leu 2 61 3' 71.617 0 0.000202 0 71.617 0 0.000202 0 0 transition C T C>T 0.705 0.609 P Pro CCA 0.274 L Leu CTA 0.070 333 11 2 Gorilla -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 0.31 II.94 255 PASS . . . . . . . . . . . ENSG00000205318:ENST00000417671:exon2:c.C998T:p.P333L . . . . 0.5 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000205318 . . . dist\x3d17722\x3bdist\x3d24328 dist\x3d17722\x3bdist\x3d24328 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000417671 0.675 0.675 . 0.280000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.635 0.635000 . . 0.280000 . . 1.0E-255 . . . . . . . . . 0.635 . . . . . . 1 1538 10 1/0 0,255,255 +rs61734277 6 10874905 A C - GCM2 4198 Glial cells missing homolog 2 (Drosophila) NM_004752.3 -1 2365 1521 NP_004743.1 O75603 substitution missense exon GRCh37 10874905 10874905 Chr6(GRCh37):g.10874905A>C 844 844 NM_004752.3:c.844T>G p.Tyr282Asp p.Tyr282Asp 5 603716 262 3' 88.1904 8.64481 0.981108 V.93 88.1904 8.64481 0.981108 V.93 0 Cryptic Donor Strongly Activated 10874908 0.015026 63.8917 0.552088 0.130336 69.4049 rs61734277 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.000000 0.001000 0.000000 0.007000 0.013000 0.008923 0.001664 0.006014 0.016745 0.000159 0.002534 0.012799 0.011050 0.010668 0.016745 2474 40 207 170 3 78 1622 285 69 277246 24032 34420 10152 18870 30782 126730 25792 6468 0.000166 0.000000 0.000058 0.000000 0.000000 0.000195 0.000237 0.000155 0.000618 23 0 1 0 0 3 15 2 2 2428 40 205 170 3 72 1592 281 65 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8494 4399 12893 106 7 113 0.0123256 0.00158874 0.0086883 0.0123256 0.00158874 0.0086883 193 CM1413390 Hyperparathyroidism, association with 25279501 DFP transversion T G T>G 0.000 0.448 Y Tyr TAT 0.438 D Asp GAT 0.461 282 13 8 Frog -2 -3 -6 0.2 I.38 6.II 13 136 54 160 C0 262.28 40.46 Tolerated 0.09 III.16 bad 5.056E-5 0.2175 255 PASS . 0.01 0.01 . 0.01 . 0.0034 0.013 . 0.007 0.001 ENSG00000124827:ENST00000379491:exon5:c.T844G:p.Y282D GCM2:uc003mzn.4:exon5:c.T844G:p.Y282D GCM2:NM_004752:exon5:c.T844G:p.Y282D . . 0.5614035 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.203 . @ . . . . . 1 0.200 . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Gat|Y282D|GCM2|mRNA|CODING|NM_004752|NM_004752.ex.5) 0.0016 0.0087 0.012 0.0016 0.0087 0.012 . -0.6385 -0.669 -0.638 c . . . . . 8.761e-03 . . . 0.0015 0.0085 0.0063 0.0004 0.0121 0.0137 0.0098 0.0032 0.0012 0.0083 0.0060 0.0003 0.0106 0.0124 0.0130 0.0032 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.718 . . exonic exonic exonic . . 0.118 0.0034 . . . 0.34 0.3 182 ENSG00000124827 GCM2 GCM2 . . . 0.000 0.029 . 834 0.0128355 64976 817 0.0136198 59986 Likely_benign . 0 . 0.139 . . . . . . . . . 37 . 0.411 . . 0.438 . . . 0.763 0.090 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.812 . . 0 0 0 0 0 0 . 0.163 . . 0.112 . . . . . . 0 0.555 . . . . . 0.205 . 0.045 . HET 0 rs61734277 . . . . . . . 0.005036630036630037 0.0 0.013812154696132596 0.0 0.0079155672823219 VI.67 0.001873 ENST00000379491 5.V -0.376 . 0.030000 O75603 . . . 0.008688 . 0.280 . . . 0.0016 0.0091 0.0058 0.0172 0.0001 0.0112 0.0131 0.0106 0.0025 0.0018 0.0077 0.0143 0.0033 0.0006 0.0103 0.0108 0.0112 . . 0.283 . -0.187 -0.187000 . . 0.030000 . . 1.0E-255 0.592 0.274 . 0.083 0.006 . 0.498 . 0.243 -0.187 0.042 0.012 . . rs61734277 rs61734277 1 1538 10 1/0 0,255,255 +. 6 15501515 A C - JARID2 6196 Jumonji, AT rich interactive domain 2 NM_004973.3 1 6097 3741 NP_004964.2 Q92833 substitution missense exon GRCh37 15501515 15501515 Chr6(GRCh37):g.15501515A>C 2323 2323 NM_004973.3:c.2323A>C p.Lys775Gln p.Lys775Gln 8 601594 -126 5' 84.5939 VIII.53 0.96011 6.75636 84.5939 VIII.53 0.96011 6.75636 0 transversion A C A>C 1.000 4.806 K Lys AAG 0.575 Q Gln CAG 0.744 775 12 8 Tetraodon 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 353.86 0.00 Deleterious 0.04 III.68 191 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.725 . . 72.0 . . . . . . . . . . 0.5245 0.516 0.524 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.871 . . exonic exonic exonic . . 0.674 @ . . . . . . ENSG00000008083 JARID2 JARID2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.772 0.099 . . 37 . 0.923 . . 0.912 . . . 0.723 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.899 . . 0.742 . . . . . . 0 0.506 . . . . . 0.693 . 0.576 . LowAF 0.06 . . . . . . . . . . . . . 14.7923 . . 5.V 5.V . 0.270000 . . . Name\x3dnsv522265 . . 0.696 . . 5.V . . . . . . . . . . . . . . . . . . . 0.522 . 1.895 1.895000 . . 0.270000 . . 1.0E-191 1.000 0.715 . 0.697 0.999 . 0.596 . 0.866 1.895 1.062 . . . . . 1 1538 10 1.I 0,0,0 +rs61750269 6 15520335 C G - JARID2 6196 Jumonji, AT rich interactive domain 2 NM_004973.3 1 6097 3741 NP_004964.2 Q92833 substitution synonymous exon GRCh37 15520335 15520335 Chr6(GRCh37):g.15520335C>G 3594 3594 NM_004973.3:c.3594C>G p.Gly1198= p.Gly1198Gly 18 601594 36 3' 75.2186 9.44471 0.2459 7.67792 75.2186 9.44471 0.2459 VII.66 0 rs61750269 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.002236 0.000542 0.000320 0.000986 0.000000 0.000195 0.003492 0.005041 0.001083 0.005041 619 13 11 10 0 6 442 130 7 276880 23994 34344 10144 18832 30738 126578 25788 6462 0.000036 0.000000 0.000000 0.000000 0.000000 0.000065 0.000047 0.000078 0.000000 5 0 0 0 0 1 3 1 0 609 13 11 10 0 4 436 128 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4405 12985 20 1 21 0.00232558 0.000226963 0.00161464 0.00232558 0.000226963 0.00161464 72 transversion C G C>G 1.000 0.851 G Gly GGC 0.342 G Gly GGG 0.250 1198 255 PASS . 0.0005 . . 0.0013 . 0.0004 0.0014 . 0.001 . . . . . . 0.625 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . . 0.0002 0.0016 0.0023 0.0002 0.0016 0.0023 . I.15 . . . . . . . . 2.336e-03 . . . 0.0003 0.0013 0.0003 0 0.0045 0.0022 0 0.0002 0.0002 0.0022 0.0004 0 0.0054 0.0035 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.36 0.26 182 ENSG00000008083 JARID2 JARID2 . . . . . . 154 0.00237011 64976 152 0.00253392 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 6 . . . . . . . . . . HET . rs61750269 . 0.043 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522265 0.001615 . . . . IV.82 0.0006 0.0022 0.0003 0.0010 0 0.0047 0.0035 0.0009 0.0002 0.0005 0.0025 0 0 0 0.0072 0.0031 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0023 rs61750269 rs61750269 rs61750269 rs61750269 1 1538 10 1/0 0,255,255 +rs528381715 6 17282528 T A - RBM24 21539 RNA binding motif protein 24 NM_001143942.1 1 2467 711 NP_001137414.1 Q9BX46 substitution intron GRCh37 17282528 17282528 Chr6(GRCh37):g.17282528T>A 169-508 169-508 NM_001143942.1:c.169-508T>A p.? p.? 2 1 617603 -508 3' 75.6527 6.54043 0.219205 6.63502 75.6527 6.54043 0.219205 6.63502 0 rs528381715 yes no Frequency 1 T 0.000000 0 0.001639 0.000000 0.000777 0.006610 0.000000 0.000624 0.002201 0.002614 0.002228 0.006610 256 0 19 54 0 14 136 23 10 156168 14552 24462 8170 11466 22444 61788 8798 4488 0.000013 0.000000 0.000000 0.000245 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 254 0 19 52 0 14 136 23 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.039 2.142 255 PASS . . . . . . . . . . . . . . . . 0.43076923 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . I.13 . . . . . . . . 1.109e-03 . . . 0 0.0017 0 0 0 0.0051 0 0.0005 0 0.0017 0 0 0 0.0052 0 0.0005 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000112183 RBM24 RBM24 . . . . . . 83 0.00127739 64976 83 0.00138366 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs528381715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.26 0 0.0016 0.0008 0.0067 0 0.0034 0.0019 0.0011 0.0006 0 0.0020 0.0012 0.0033 0 0.0014 0.0032 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs12211658 6 17764960 A G - KIF13A 14566 Kinesin family member 13A NM_022113.5 -1 5995 5418 NP_071396.4 Q9H1H9 substitution missense exon GRCh37 17764960 17764960 Chr6(GRCh37):g.17764960A>G 4799 4799 NM_022113.5:c.4799T>C p.Phe1600Ser p.Phe1600Ser 39 605433 218 3' 84.0086 9.52216 0.987525 6.20331 84.0086 9.52216 0.987525 6.20331 0 rs12211658 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.002196 0.000800 0.005100 0.000000 0.004000 0.001400 0.004339 0.000712 0.001083 0.004052 0.000053 0.003533 0.005319 0.011120 0.005606 0.011120 1195 17 37 41 1 108 669 286 36 275434 23866 34176 10118 18780 30568 125784 25720 6422 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000233 0.000000 5 0 0 0 0 0 2 3 0 1185 17 37 41 1 108 665 280 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8337 4055 12392 33 5 38 0.00394265 0.00123153 0.00305712 0.00394265 0.00123153 0.00305712 78 transition T C T>C 1.000 4.887 F Phe TTT 0.454 S Ser TCT 0.185 1600 12 9 Tetraodon -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 353.86 0.00 Tolerated 0.21 III.66 255 PASS 0.002 0.0027 0.0028 . 0.01 0.0008 0.0022 0.0014 . 0.004 0.0051 . . . . . 0.43786982 . . @ 74 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.914 . @ . . . . . 1 0.966 . . 169.0 . . . 0.0012 0.0031 0.0039 0.0012 0.0031 0.0039 . 0.7222 0.770 0.722 c . . . . . 4.308e-03 . . . 0.0012 0.0037 0.0007 0 0.0114 0.0047 0.0015 0.0042 0.0014 0.0045 0.0008 0 0.0114 0.0056 0.0046 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.531 . . exonic exonic exonic . . 0.990 0.0022 . . . 0.51 0.5 182 ENSG00000137177 KIF13A KIF13A . . . 1.000 0.747 . 360 0.00554051 64976 349 0.00581802 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.504 . . 0.534 . . . 0.510 0.530 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.621 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.912 . . . . . 0.850 . 0.799 . HET 0 rs12211658 . . . . . . . 0.0027472527472527475 0.0020325203252032522 0.0027624309392265192 0.0 0.005277044854881266 16.6512 0.001183 . 6.VIII 6.VIII . 0.070000 . . . . 0.003057 . 0.934 . . 6.VIII 0.0007 0.0043 0.0010 0.0042 5.827e-05 0.0114 0.0052 0.0050 0.0035 0.0008 0.0047 0.0036 0 0 0.0092 0.0064 0.0092 . . 0.730 . 2.333 2.333000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.927 . 0.893 2.333 1.062 0.01 rs12211658 rs12211658 rs12211658 rs12211658 1 1538 10 1/0 0,236,255 +rs760143330 6 17850523 C G - KIF13A 14566 Kinesin family member 13A NM_022113.5 -1 5995 5418 NP_071396.4 Q9H1H9 substitution intron GRCh37 17850523 17850523 Chr6(GRCh37):g.17850523C>G 717+31 717+31 NM_022113.5:c.717+31G>C p.? p.? 8 8 605433 31 5' 82.9658 8.05386 0.964492 4.57376 82.9658 8.05386 0.964492 4.45894 0 rs760143330 yes no Frequency 1 C 0.000000 0 0.000011 0.000000 0.000033 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000033 3 0 1 0 0 0 2 0 0 261222 23722 30396 8892 18072 27610 121330 25178 6022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.525 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.5772 . . . . . . . . 8.000e-06 . . . 0 1.163e-05 0 0 0 0 0 7.302e-05 0 9.854e-06 0 0 0 0 0 7.353e-05 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000137177 KIF13A KIF13A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs760143330 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv516012 . . . . . . 0 8.685e-06 3.383e-05 0 0 0 9.404e-06 0 0 0 3.231e-05 0 0 0 0 6.67e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 17850524 A C - KIF13A 14566 Kinesin family member 13A NM_022113.5 -1 5995 5418 NP_071396.4 Q9H1H9 substitution intron GRCh37 17850524 17850524 Chr6(GRCh37):g.17850524A>C 717+30 717+30 NM_022113.5:c.717+30T>G p.? p.? 8 8 605433 30 5' 82.9658 8.05386 0.964492 4.57376 82.9658 8.05386 0.964492 5.22275 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 2 0 0 0 0 0 2 0 0 261764 23718 30446 8934 18088 27742 121556 25236 6044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.53846157 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.7362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000137177 KIF13A KIF13A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv516012 . . . . . . 0 4.332e-06 0 0 0 0 9.382e-06 0 0 0 3.236e-05 0 0 0 0 6.681e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs776017320 6 25778117 T C - SLC17A4 10932 Solute carrier family 17, member 4 NM_005495.2 1 3600 1494 NP_005486.1 Q9Y2C5 substitution intron GRCh37 25778117 25778117 Chr6(GRCh37):g.25778117T>C 1269-37 1269-37 NM_005495.2:c.1269-37T>C p.? p.? 11 10 604216 -37 3' 90.2565 XI.53 0.90455 5.57396 90.2565 XI.53 0.90455 V.91 0 rs776017320 yes no Frequency 1 T 0.000000 0 0.000037 0.000000 0.000118 0.000000 0.000106 0.000000 0.000032 0.000000 0.000000 0.000118 10 0 4 0 2 0 4 0 0 273480 24000 33974 10016 18802 30052 125232 25014 6390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 4 0 2 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.024 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.60465115 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.4716 . . . . . . . . 3.157e-05 . . . 0 3.319e-05 0 0.0002 0 4.767e-05 0 0 0 3.779e-05 0 0.0003 0 3.692e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146039 SLC17A4 SLC17A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776017320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.299e-05 0.0001 0 0.0001 0 1.814e-05 0 0 0 6.461e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200114666 6 25820157 G A - SLC17A1 10929 Solute carrier family 17 (sodium phosphate), member 1 NM_005074.3 -1 1844 1404 NP_005065.2 Q14916 substitution intron GRCh37 25820157 25820157 Chr6(GRCh37):g.25820157G>A 208-14 208-14 NM_005074.3:c.208-14C>T p.? p.? 4 3 182308 -14 3' 81.1958 XI.13 0.963978 VI.98 83.9687 XI.39 0.978023 6.90084 0.0149069 rs200114666 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.017400 0.001000 0.004000 0.004300 0.005048 0.000508 0.002063 0.015673 0.000217 0.013832 0.005641 0.001640 0.005252 0.015673 1278 12 65 123 4 346 657 40 31 253166 23638 31506 7848 18410 25014 116464 24384 5902 0.000079 0.000000 0.000000 0.000255 0.000000 0.000560 0.000034 0.000000 0.000000 10 0 0 1 0 7 2 0 0 1258 12 65 121 4 332 653 40 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8558 4392 12950 38 6 44 0.00442066 0.00136426 0.00338618 0.00442066 0.00136426 0.00338618 48 transition C T C>T 0.000 0.528 255 PASS . 0.0023 . 0.0017 0.01 . 0.005 0.0043 0.001 0.004 0.017 . . . . . 0.42857143 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||SLC17A1|mRNA|CODING|NM_005074|) 0.0014 0.0034 0.0044 0.0014 0.0034 0.0044 . 0.1478 . . . . . . . . 5.691e-03 . . . 0.0009 0.0062 0.0015 0.0002 0.0008 0.0072 0.0049 0.0169 0.0007 0.0059 0.0014 0.0003 0.0018 0.0068 0.0049 0.0167 . . . . . . intronic intronic intronic . . . 0.0050 . . . 0.27 0.25 182 ENSG00000124568 SLC17A1 SLC17A1 . . . . . . 283 0.00435545 64976 258 0.004301 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200114666 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv883489 0.003386 . . . . . 0.0006 0.0054 0.0020 0.0152 0.0002 0.0017 0.0059 0.0055 0.0138 0.0003 0.0028 0.0048 0.0265 0 0.0014 0.0042 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs200114666 rs200114666 1 1538 10 1/0 0,255,255 +rs868309108 6 26104071 G A - HIST1H4C 4787 Histone cluster 1, H4c NM_003542.3 1 390 312 NP_003533.1 P62805 substitution upstream GRCh37 26104071 26104071 Chr6(GRCh37):g.26104071G>A -105 -105 NM_003542.3:c.-105G>A p.? p.? 1 602827 rs868309108 no no 0 G 0.000000 0 transition G A G>A 0.000 0.286 227 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 29.0 . . . . . . . . . . I.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000197061 HIST1H4C HIST1H4C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv428137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200552384 6 26851103 A G - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26851103 26851103 Chr6(GRCh37):g.26851103A>G 844+19 844+19 NR_003504.3:n.844+19T>C p.? p.? 6 6 19 5' 94.2214 9.88355 0.998508 V.99 94.2214 9.88355 0.998508 V.54 0 rs200552384 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30776 8692 828 292 1606 0 14912 3476 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 38 Genomes transition T C T>C 0.024 1.013 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.1598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.16 0.16 182 ENSG00000241549 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200552384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs2258488 rs2258488 rs2258488 rs200552384 1 1538 10 1/0 0,255,255 +. 6 26866197 G A - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26866197 26866197 Chr6(GRCh37):g.26866197G>A 397-9221 397-9221 NR_003504.3:n.397-9221C>T p.? p.? 4 3 -9221 3' 88.7067 11.1555 0.945787 9.78264 88.7067 11.1555 0.945787 9.78264 0 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000091 0.000000 0.000000 0.000091 1 0 0 0 0 0 1 0 0 24868 7866 674 180 1366 0 10934 3124 724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 29 Genomes transition C T C>T 0.012 -0.521 210 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.3739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000243307 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.021e-05 0 0 0 0 9.146e-05 0 . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs10946862 6 26866808 A G - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26866808 26866808 Chr6(GRCh37):g.26866808A>G 397-9832 397-9832 NR_003504.3:n.397-9832T>C p.? p.? 4 3 -9832 3' 88.7067 11.1555 0.945787 9.78264 88.7067 11.1555 0.945787 9.78264 0 rs10946862 yes no Frequency/1000G 2 0.000000 0 0.002796 0.002300 0.004100 0.002000 0.004000 0.001400 0.000572 0.000244 0.001323 0.000000 0.000680 0.000000 0.000836 0.000000 0.001163 0.001323 16 2 1 0 1 0 11 0 1 27982 8212 756 274 1470 0 13160 3250 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 1 0 1 0 11 0 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.142 0.205 187 PASS . . . . . 0.0023 0.0028 0.0014 0.002 0.004 0.0041 . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.2593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.0028 . . . 0.21 0.07 182 ENSG00000241549 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs10946862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0006 0.0013 0 0.0007 0 0.0008 0.0012 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs10946862 rs10946862 rs10946862 rs10946862 1 1538 10 1/0 0,255,255 +rs10946863 6 26866814 T G - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26866814 26866814 Chr6(GRCh37):g.26866814T>G 397-9838 397-9838 NR_003504.3:n.397-9838A>C p.? p.? 4 3 -9838 3' 88.7067 11.1555 0.945787 9.78264 88.7067 11.1555 0.945787 9.78264 0 Cryptic Acceptor Strongly Activated 26866808 6.75062 0.020516 76.2166 8.86063 0.217516 79.9017 rs10946863 no no 0 0.000000 0 0.002550 0.001390 0.001433 0.000000 0.001420 0.000000 0.003679 0.001340 0.005038 0.003679 67 11 1 0 2 0 45 4 4 26274 7916 698 244 1408 0 12230 2984 794 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 11 1 0 2 0 45 4 4 0 0 0 0 0 0 0 0 0 RF 46 Genomes transversion A C A>C 0.047 -1.893 153 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.8052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.24 0.05 182 ENSG00000241549 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10946863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0026 0.0014 0 0.0014 0.0013 0.0037 0.0050 . . . . . . . . . . . 1.0E-153 . . . . . . . . . . . . rs10946863 rs10946863 rs10946863 rs10946863 1 1538 10 1/0 0,255,255 +. 6 26867131 C G - GUSBP2 18792 Glucuronidase, beta pseudogene 2 NR_003504.3 -1 1200 0 substitution intron GRCh37 26867131 26867131 Chr6(GRCh37):g.26867131C>G 397-10155 397-10155 NR_003504.3:n.397-10155G>C p.? p.? 4 3 -10155 3' 88.7067 11.1555 0.945787 9.78264 88.7067 11.1555 0.945787 9.78264 0 transversion G C G>C 0.087 0.286 186 PASS . . . . . . . . . . . . . . . . 0.12820514 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||GUSBP2|Non-coding_transcript|NON_CODING|NR_003504|) . . . . . . . -0.3094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000241549 GUSBP2 GUSBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 29760370 GCA G - HCG4 21241 HLA complex group 4 (non-protein coding) NR_002139.2 -1 2043 0 delins exon GRCh37 29760370 29760372 Chr6(GRCh37):g.29760370_29760372delinsG 479 481 NR_002139.2:n.479_481delinsC 1 C GCT 255 Pass . . . . . . . . . . . . . . . . 0.40449437 . . . 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . . LOC554223 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,39 +rs2905755 6 29760373 A C - HCG4 21241 HLA complex group 4 (non-protein coding) NR_002139.2 -1 2043 0 substitution exon GRCh37 29760373 29760373 Chr6(GRCh37):g.29760373A>C 478 478 NR_002139.2:n.478T>G 1 rs2905755 yes no Frequency/1000G 2 A 0.000000 0 0.378794 0.594600 0.369100 0.192500 0.301200 0.364600 0.000041 0.000134 0.000039 0.000126 0.000153 0.000000 0.000027 0.000000 0.000000 0.000153 7 1 1 1 2 0 2 0 0 170358 7450 25392 7952 13030 23442 72790 16140 4162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 1 1 2 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 67 Exomes transversion T G T>G 1.000 1.013 204 PASS . . . . . 0.59 0.38 0.36 0.19 0.3 0.37 . LOC554223:uc003nnt.3:exon2:c.A458C:p.Q153P . . . 0.11363637 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . 0.7828 . . . . . . . . 1.249e-05 . . . 0 0.0001 0.0013 0 0 0 0 0 0 8.288e-05 0.0013 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.3788 . . . 0.35 0.38 182 . LOC554223 . . . . . . . 7433 0.114396 64976 6292 0.104891 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.109e-05 3.938e-05 0.0001 0.0002 0 2.748e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs2905755 rs2905755 rs2905755 rs2905755 1 1538 10 1/0 0,255,255 +rs200058965 6 29855862 A G - HLA-H 4965 Major histocompatibility complex, class I, H (pseudogene) NR_001434.3 1 1519 0 substitution exon GRCh37 29855862 29855862 Chr6(GRCh37):g.29855862A>G 202 202 NR_001434.3:n.202A>G 2 131 3' 84.7602 6.56891 0.957073 5.28855 84.7602 6.56891 0.957073 5.28855 0 rs200058965 yes no Frequency 1 A 0.000000 0 0.000109 0.000231 0.000056 0.000000 0.000000 0.000053 0.000127 0.000257 0.000000 0.000257 14 2 1 0 0 1 7 3 0 128710 8640 17868 5324 8270 18736 55200 11658 3014 0.071429 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 1 0 0 0 0 0 0 1 0 12 2 1 0 0 1 7 1 0 0 0 0 0 0 0 0 0 0 RF 119 Exomes transition A G A>G 0.236 0.125 255 PASS . . . . . . . . . . . . HLA-H:uc010jro.3:exon2:c.A210G:p.R70R . . . 0.4076923 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 130.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R68G|HLA-H|Non-coding_transcript|NON_CODING|NR_001434.5|NR_001434.5.ex.2) . . . . . . . 0.4696 . . . . . . . . . . . . 0.0008 0.0003 0.0002 0 0.0007 0.0004 0 0.0001 0.0009 0.0005 0.0002 0 0.0008 0.0006 0 0.0001 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.42 0.51 182 . HLA-H HLA-H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 5.597e-05 0 0 0.0003 0.0001 0 5.337e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200058965 rs200058965 1 1538 10 1/0 0,241,255 +rs200854025 6 29855863 G A - HLA-H 4965 Major histocompatibility complex, class I, H (pseudogene) NR_001434.3 1 1519 0 substitution exon GRCh37 29855863 29855863 Chr6(GRCh37):g.29855863G>A 203 203 NR_001434.3:n.203G>A 2 132 3' 84.7602 6.56891 0.957073 5.28855 84.7602 6.56891 0.957073 5.28855 0 rs200854025 yes no Frequency 1 G 0.000000 0 0.000126 0.000371 0.000000 0.000000 0.000000 0.000059 0.000160 0.000214 0.000000 0.000371 14 3 0 0 0 1 8 2 0 110870 8076 13446 4434 5896 17022 50060 9360 2576 0.071429 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 1 0 0 0 0 0 0 1 0 12 3 0 0 0 1 8 0 0 0 0 0 0 0 0 0 0 0 PASS 140 Exomes transition G A G>A 0.197 -0.521 255 PASS . . . . . . . . . . . . HLA-H:uc010jro.3:exon2:c.G211A:p.E71K . . . 0.3846154 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 130.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R68K|HLA-H|Non-coding_transcript|NON_CODING|NR_001434.5|NR_001434.5.ex.2) . . . . . . . 0.3485 . . . . . . . . 7.731e-04 . . . 0.0006 0.0003 0.0002 0 0 0.0004 0 0.0001 0.0007 0.0004 0.0002 0 0 0.0006 0 0.0001 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.38 0.55 182 . HLA-H HLA-H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0.0002 0.0002 0 5.875e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200854025 rs200854025 1 1538 10 1/0 0,239,255 +rs201660016 6 29855864 A T - HLA-H 4965 Major histocompatibility complex, class I, H (pseudogene) NR_001434.3 1 1519 0 substitution exon GRCh37 29855864 29855864 Chr6(GRCh37):g.29855864A>T 204 204 NR_001434.3:n.204A>T 2 133 3' 84.7602 6.56891 0.957073 5.28855 84.7602 6.56891 0.957073 5.28855 0 rs201660016 yes no Frequency 1 A 0.000000 0 0.000039 0.000000 0.000000 0.000000 0.000122 0.000054 0.000055 0.000000 0.000000 0.000122 5 0 0 0 1 1 3 0 0 128082 8650 17672 5188 8224 18542 55028 11776 3002 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 119 Exomes transversion A T A>T 0.213 -1.005 255 PASS . . . . . . . . . . . . HLA-H:uc010jro.3:exon2:c.A212T:p.E71V . . . 0.4047619 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R68S|HLA-H|Non-coding_transcript|NON_CODING|NR_001434.5|NR_001434.5.ex.2) . . . . . . . 0.3047 . . . . . . . . 1.358e-04 . . . 0.0002 9.335e-05 0 0.0004 0 7.937e-05 0 8.673e-05 0.0002 8.206e-05 0 0.0003 0 6.367e-05 0 8.72e-05 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.41 0.52 182 . HLA-H HLA-H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.904e-05 0 0 0.0001 0 5.452e-05 0 5.393e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201660016 rs201660016 1 1538 10 1/0 0,242,255 +rs878999200 6 29911799 T C - HLA-A 4931 Major histocompatibility complex, class I, A NM_001242758.1 1 1611 1098 NP_001229687.1 P30443 substitution intron GRCh37 29911799 29911799 Chr6(GRCh37):g.29911799T>C 620-100 620-100 NM_001242758.1:c.620-100T>C p.? p.? 4 3 142800 -100 3' 81.7382 7.90351 0.770029 7.55749 81.7382 7.90351 0.770029 7.55749 0 rs878999200 no no 0 T 0.000000 0 0.001135 0.000967 0.000000 0.003759 0.001416 0.000000 0.001339 0.000922 0.000000 0.003759 30 7 0 1 2 0 17 3 0 26434 7242 702 266 1412 0 12700 3254 858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 7 0 1 2 0 17 3 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition T C T>C 0.000 -1.409 201 PASS . . . . . . . . . . . . . . . . 0.16153847 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.3374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000206503 . HLA-A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0011 0 0.0038 0.0014 0.0009 0.0013 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +. 6 29911823 A G - HLA-A 4931 Major histocompatibility complex, class I, A NM_001242758.1 1 1611 1098 NP_001229687.1 P30443 substitution intron GRCh37 29911823 29911823 Chr6(GRCh37):g.29911823A>G 620-76 620-76 NM_001242758.1:c.620-76A>G p.? p.? 4 3 142800 -76 3' 81.7382 7.90351 0.770029 7.55749 81.7382 7.90351 0.770029 7.70574 0 New Acceptor Site 29911824 9.21508 0.710995 86.7429 transition A G A>G 0.000 0.044 191 PASS . . . . . . . . . . . . . . . . 0.13809524 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . 0.0571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000206503 . HLA-A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,255 +rs141520003 6 30104816 G A - TRIM40 18736 Tripartite motif containing 40 NM_001286633.1 1 2086 777 NP_001273562.1 Q6P9F5 substitution start loss exon GRCh37 30104816 30104816 Chr6(GRCh37):g.30104816G>A 3 3 NM_001286633.1:c.3G>A p.? p.? 2 616976 307 3' 85.2418 8.14515 0.957785 5.88018 85.2418 8.14515 0.957785 5.88018 0 rs141520003 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.001602 0.000392 0.000817 0.000604 0.000373 0.000853 0.002692 0.000431 0.002670 0.002692 434 9 28 6 7 26 330 11 17 270866 22936 34280 9940 18750 30466 122580 25546 6368 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 432 9 28 6 7 26 328 11 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5394 3021 8415 22 1 23 0.00406204 0.000330907 0.00272576 0.00406204 0.000330907 0.00272576 60 transition G A G>A 0.764 1.416 M Met ATG 1.000 I Ile ATA 0.163 1 255 PASS . 0.0014 . . 0.004 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.48623854 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.518 . @ . . . . . 0 0.546 . . 109.0 . . . 0.0003 0.0027 0.0041 0.0003 0.0027 0.0041 . -0.0966 -0.258 -0.097 c . . . . . 1.648e-03 . . . 0.0002 0.0018 0.0007 0.0002 0 0.0032 0.0015 0.0008 0 0.0015 0.0006 0.0003 0.0008 0.0025 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.643 . . exonic exonic exonic . . 0.425 0.0010 . . . 0.25 0.48 182 ENSG00000204614 TRIM40 TRIM40 . . . 0.997 0.348 . 116 0.00178527 64976 111 0.00185043 59986 Uncertain_significance . 0 . 0.449 . . . . D 0.932 0.391 . . 37 . 0.642 . . 0.692 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.604 . . 0.623 . . . . . . 0 0.912 . . . . . 0.318 . 0.723 . HET 0 . . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 VIII.91 6.59E-4 . IV.65 III.78 . 0.000000 . . . Name\x3desv2731777 0.002726 . 0.231 . . III.78 0.0004 0.0016 0.0008 0.0005 0.0004 0.0005 0.0028 0.0026 0.0009 0.0003 0.0013 0.0012 0.0033 0 0 0.0021 0.0031 . . 0.083 . 1.156 1.156000 . . 0.000000 . . 1.0E-255 0.871 0.306 . 0.182 0.069 . 0.385 . 0.410 1.156 0.830 0.0041 . . rs141520003 rs141520003 1 1538 10 1/0 0,254,255 +. 6 30313406 C G - RPP21 21300 Ribonuclease P/MRP 21kDa subunit NM_001199120.1 1 580 489 NP_001186049.1 substitution intron GRCh37 30313406 30313406 Chr6(GRCh37):g.30313406C>G 265+56 265+56 NM_001199120.1:c.265+56C>G p.? p.? 3 3 612524 56 5' 79.2719 9.21555 0.974011 XI.13 79.2719 9.21555 0.974011 XII.31 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8298 2034 192 100 952 0 4688 98 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 119 Genomes transversion C G C>G 0.000 -3.507 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . 0.2680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5241 . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +. 6 30313406 C G - TRIM39 10065 Tripartite motif-containing 39 NM_021253.3 1 3339 1557 NP_067076.2 Q9HCM9 substitution downstream GRCh37 30313406 30313406 Chr6(GRCh37):g.30313406C>G *3370 *3370 NM_021253.3:c.*3370C>G p.? p.? 9 605700 3918 3' 80.7099 7.74927 0.291953 VII.26 80.7099 7.74927 0.291953 VII.26 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8298 2034 192 100 952 0 4688 98 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 119 Genomes transversion C G C>G 0.000 -3.507 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . 0.2680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5241 . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +. 6 30313406 C G - TRIM39-RPP21 38845 TRIM39-RPP21 readthrough NM_001199119.1 1 1567 1512 NP_001186048.1 substitution intron GRCh37 30313406 30313406 Chr6(GRCh37):g.30313406C>G 1288+56 1288+56 NM_001199119.1:c.1288+56C>G p.? p.? 8 8 56 5' 79.2719 9.21555 0.974011 XI.13 79.2719 9.21555 0.974011 XII.31 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8298 2034 192 100 952 0 4688 98 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 119 Genomes transversion C G C>G 0.000 -3.507 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . 0.2680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5241 . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +rs145831378 6 30514529 G A - GNL1 4413 Guanine nucleotide binding protein-like 1 NM_005275.3 -1 7910 1824 NP_005266.2 P36915 substitution missense exon GRCh37 30514529 30514529 Chr6(GRCh37):g.30514529G>A 1526 1526 NM_005275.3:c.1526C>T p.Ala509Val p.Ala509Val 11 143024 -57 5' 84.4819 6.80373 0.754243 5.50684 84.4819 6.80373 0.754243 5.10675 0 Cryptic Donor Weakly Activated 30514531 58.6133 0.668974 0.003778 63.9968 rs145831378 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.008200 0.000000 0.007000 0.001400 0.003490 0.000306 0.002801 0.015297 0.000800 0.005207 0.003827 0.000428 0.005641 0.015297 948 7 96 153 15 159 471 11 36 271646 22902 34276 10002 18744 30534 123078 25728 6382 0.000029 0.000000 0.000000 0.000000 0.000000 0.000066 0.000049 0.000000 0.000000 4 0 0 0 0 1 3 0 0 940 7 96 153 15 157 465 11 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5390 3015 8405 26 1 27 0.00480059 0.000331565 0.00320209 0.00480059 0.000331565 0.00320209 82 COSM4160558 Thyroid 0.001339 747 transition C T C>T 0.992 3.676 A Ala GCA 0.226 V Val GTA 0.114 509 12 9 Tetraodon 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 251.40 0.00 Tolerated 0.35 3.IX good 6.814E-1 0.284 255 PASS . . . . . . 0.0032 0.0014 . 0.007 0.0082 ENSG00000204590:ENST00000376621:exon11:c.C1526T:p.A509V . GNL1:NM_005275:exon11:c.C1526T:p.A509V . . 0.4375 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.531 . @ . . . . . 1 0.837 . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A509V|GNL1|mRNA|CODING|NM_005275.5|NM_005275.5.ex.11) 0.0003 0.0032 0.0048 0.0003 0.0032 0.0048 . 0.1613 0.322 0.161 c . . . . . 3.656e-03 . . . 0.0003 0.0043 0.0031 0.0004 0 0.0060 0.0030 0.0059 0 0.0037 0.0029 0.0004 0.0008 0.0046 0.0015 0.0059 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . 0.793 0.0032 . . . 0.59 0.25 182 ENSG00000204590 GNL1 GNL1 . . . 1.000 0.747 . 171 0.00263174 64976 155 0.00258394 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.223 . . 0.046 . . . 0.427 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.571 . . 0 0 0 0 0 0 . 0.360 . . 0.324 . . . . . . 0 0.346 . . . . . 0.533 . 0.422 . HET 0 . . . . . . . ID\x3dCOSM4160558\x3bOCCURENCE\x3d1(thyroid) . . . . . 12.1818 6.61E-4 . V.44 V.44 . 0.280000 . . . . 0.003202 . 0.744 . . V.44 0.0003 0.0037 0.0028 0.0148 0.0008 0.0005 0.0040 0.0057 0.0052 0.0003 0.0019 0.0012 0.0298 0.0006 0 0.0026 0.0051 . . 0.730 . 2.560 2.560000 . . 0.280000 . . 1.0E-255 1.000 0.715 . 0.562 0.991 . 0.766 . 0.713 2.560 0.917 0.0048 . . rs145831378 rs145831378 1 1538 10 1/0 0,255,255 +rs200569280 6 30673085 C T - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution missense exon GRCh37 30673085 30673085 Chr6(GRCh37):g.30673085C>T 3875 3875 NM_014641.2:c.3875G>A p.Arg1292Gln p.Arg1292Gln 10 607593 791 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 rs200569280 yes no Frequency 1 T 0.000000 0 0.000286 0.000252 0.000843 0.000112 0.000340 0.000276 0.000210 0.000169 0.000000 0.000843 63 4 21 1 4 7 22 4 0 220270 15896 24912 8922 11762 25346 104988 23696 4748 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 4 21 1 4 7 22 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3733953 Pancreas 0.001138 1758 transition G A G>A 0.000 0.125 R Arg CGG 0.207 Q Gln CAG 0.744 1292 10 1 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 1 III.62 good 9.94E-1 0.05261 182 PASS . . . . . . . . . . . . . MDC1:NM_014641:exon10:c.G3875A:p.R1292Q . . 0.11764706 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.127 . @ . . . . . 1 0.042 . . 272.0 . . . . . . . . . . -1.4884 -1.443 -1.488 c . . . . . 1.657e-04 . . . 0 0.0002 0.0006 0.0004 0 9.599e-05 0 0.0001 0 0.0002 0.0006 0.0005 0 0.0001 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.036 . . exonic exonic exonic . . 0.244 @ . . . 0.22 0.07 182 ENSG00000137337 MDC1 MDC1 . . . 0.730 0.230 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.003 . . 0.323 . . . 0.000 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.029 . . 0 0 0 0 0 0 . 0.281 . . 0.179 . . . . . . 1 0.010 . . . . . 0.137 . 0.014 . LowAF 0.15 rs200569280 . . . . . . . . . . . . 5.0301 . . 3.VI I.87 . 0.610000 . . . . . . 0.001 . . . 0 0.0002 0.0009 0.0001 0.0004 0 0.0001 0 0.0003 0.0008 0.0010 0 0 0 0.0019 0.0012 0 . . 0.730 . 0.132 0.132000 . . 0.610000 . . 1.0E-182 0.005 0.169 . 0.142 0.035 . 0.250 . 0.131 0.132 -0.119 . . . rs200569280 rs200569280 1 1538 10 1/0 0,185,255 +rs200569280 6 30673085 C T - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673085 30673085 Chr6(GRCh37):g.30673085C>T 127+2115 127+2115 NR_133647.1:n.127+2115C>T p.? p.? 1 1 2115 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs200569280 yes no Frequency 1 T 0.000000 0 0.000286 0.000252 0.000843 0.000112 0.000340 0.000276 0.000210 0.000169 0.000000 0.000843 63 4 21 1 4 7 22 4 0 220270 15896 24912 8922 11762 25346 104988 23696 4748 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 4 21 1 4 7 22 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3733953 Pancreas 0.001138 1758 transition C T C>T 0.000 0.125 182 PASS . . . . . . . . . . . . . MDC1:NM_014641:exon10:c.G3875A:p.R1292Q . . 0.11764706 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.127 . @ . . . . . 1 0.042 . . 272.0 . . . . . . . . . . -1.4884 -1.443 -1.488 c . . . . . 1.657e-04 . . . 0 0.0002 0.0006 0.0004 0 9.599e-05 0 0.0001 0 0.0002 0.0006 0.0005 0 0.0001 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.036 . . exonic exonic exonic . . 0.244 @ . . . 0.22 0.07 182 ENSG00000137337 MDC1 MDC1 . . . 0.730 0.230 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.003 . . 0.323 . . . 0.000 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.029 . . 0 0 0 0 0 0 . 0.281 . . 0.179 . . . . . . 1 0.010 . . . . . 0.137 . 0.014 . LowAF 0.15 rs200569280 . . . . . . . . . . . . 5.0301 . . 3.VI I.87 . 0.610000 . . . . . . 0.001 . . . 0 0.0002 0.0009 0.0001 0.0004 0 0.0001 0 0.0003 0.0008 0.0010 0 0 0 0.0019 0.0012 0 . . 0.730 . 0.132 0.132000 . . 0.610000 . . 1.0E-182 0.005 0.169 . 0.142 0.035 . 0.250 . 0.131 0.132 -0.119 . . . rs200569280 rs200569280 1 1538 10 1/0 0,185,255 +rs61741916 6 30673105 C G - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution synonymous exon GRCh37 30673105 30673105 Chr6(GRCh37):g.30673105C>G 3855 3855 NM_014641.2:c.3855G>C p.Val1285= p.Val1285Val 10 607593 771 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 Cryptic Acceptor Strongly Activated 30673097 5.12474 0.187351 6.37549 0.587264 rs61741916 yes no Frequency 1 G 0.000000 0 0.000511 0.001710 0.000226 0.000000 0.000536 0.000829 0.000387 0.000167 0.001395 0.001710 117 30 6 0 7 21 42 4 7 228994 17542 26560 8954 13058 25342 108562 23958 5018 0.000009 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 115 30 6 0 7 19 42 4 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3830018|COSM3830018 Thyroid|Breast 0.001305|0.000404 766|2474 transversion G C G>C 0.000 -2.054 V Val GTG 0.468 V Val GTC 0.240 1285 194 PASS . . . . . . . . . . . . . MDC1:NM_014641:exon10:c.G3855C:p.V1285V . . 0.14469454 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 311.0 . . . . . . . . . . -0.8335 . . . . . . . . 1.026e-04 . . . 0.0008 0.0001 8.75e-05 0 0 4.928e-05 0 0 0.0011 0.0001 9.02e-05 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.07 182 ENSG00000137337 MDC1 MDC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs61741916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0004 0.0002 0 0.0006 0 0.0003 0.0014 0.0008 0.0026 0.0017 0 0 0 0.0015 0.0015 0.0014 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs61741916 rs61741916 rs61741916 rs61741916 1 1538 10 1/0 0,181,255 +rs61741916 6 30673105 C G - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673105 30673105 Chr6(GRCh37):g.30673105C>G 127+2135 127+2135 NR_133647.1:n.127+2135C>G p.? p.? 1 1 2135 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs61741916 yes no Frequency 1 G 0.000000 0 0.000511 0.001710 0.000226 0.000000 0.000536 0.000829 0.000387 0.000167 0.001395 0.001710 117 30 6 0 7 21 42 4 7 228994 17542 26560 8954 13058 25342 108562 23958 5018 0.000009 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 115 30 6 0 7 19 42 4 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3830018|COSM3830018 Thyroid|Breast 0.001305|0.000404 766|2474 transversion C G C>G 0.000 -2.054 194 PASS . . . . . . . . . . . . . MDC1:NM_014641:exon10:c.G3855C:p.V1285V . . 0.14469454 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 311.0 . . . . . . . . . . -0.8335 . . . . . . . . 1.026e-04 . . . 0.0008 0.0001 8.75e-05 0 0 4.928e-05 0 0 0.0011 0.0001 9.02e-05 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.07 182 ENSG00000137337 MDC1 MDC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs61741916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0004 0.0002 0 0.0006 0 0.0003 0.0014 0.0008 0.0026 0.0017 0 0 0 0.0015 0.0015 0.0014 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs61741916 rs61741916 rs61741916 rs61741916 1 1538 10 1/0 0,181,255 +rs114458930 6 30673288 G T - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution synonymous exon GRCh37 30673288 30673288 Chr6(GRCh37):g.30673288G>T 3672 3672 NM_014641.2:c.3672C>A p.Thr1224= p.Thr1224Thr 10 607593 588 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 rs114458930 yes no Frequency/1000G 2 T 0.000000 0 0.029752 0.025700 0.068500 0.019800 0.016900 0.015900 0.004630 0.010065 0.002158 0.004358 0.004151 0.008670 0.003559 0.003572 0.007650 0.010065 1180 213 66 41 71 232 424 89 44 254838 21162 30590 9408 17104 26758 119148 24916 5752 0.000149 0.000284 0.000000 0.000000 0.000351 0.000673 0.000017 0.000000 0.001043 19 3 0 0 3 9 1 0 3 1142 207 66 41 65 214 422 89 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4296 12762 134 110 244 0.0155814 0.024966 0.0187606 0.0155814 0.024966 0.0187606 162 transversion C A C>A 0.000 0.044 T Thr ACC 0.361 T Thr ACA 0.280 1224 255 PASS 0.02 0.01 0.01 0.01 0.01 0.026 0.03 0.016 0.02 0.017 0.069 . . MDC1:NM_014641:exon10:c.C3672A:p.T1224T . . 0.5473684 . . @ 104 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 190.0 . . . 0.025 0.019 0.016 0.025 0.019 0.016 . -0.8947 . . . . . . . . 7.841e-03 . . . 0.0095 0.0095 0.0019 0.0050 0.0019 0.0070 0.0071 0.0254 0.0080 0.0076 0.0018 0.0023 0.0023 0.0051 0.0044 0.0254 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0298 . . . 0.18 0.08 182 ENSG00000137337 MDC1 MDC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs114458930 . . . . . . . 0.013736263736263736 0.024390243902439025 0.011049723756906077 0.006993006993006993 0.013192612137203167 III.77 0.025147 ENST00000417033 II.88 I.62 . . . . . . 0.018761 . . . . . 0.0078 0.0041 0.0021 0.0040 0.0040 0.0032 0.0031 0.0067 0.0087 0.0144 0.0094 0.0042 0.0157 0.0062 0.0065 0.0075 0.0139 . . . . -0.072 -0.072000 . . . . . 1.0E-255 . . . . . . . . . -0.072 . 0.025 . . rs114458930 rs114458930 1 1538 10 1/0 0,235,246 +rs114458930 6 30673288 G T - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673288 30673288 Chr6(GRCh37):g.30673288G>T 127+2318 127+2318 NR_133647.1:n.127+2318G>T p.? p.? 1 1 2318 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs114458930 yes no Frequency/1000G 2 T 0.000000 0 0.029752 0.025700 0.068500 0.019800 0.016900 0.015900 0.004630 0.010065 0.002158 0.004358 0.004151 0.008670 0.003559 0.003572 0.007650 0.010065 1180 213 66 41 71 232 424 89 44 254838 21162 30590 9408 17104 26758 119148 24916 5752 0.000149 0.000284 0.000000 0.000000 0.000351 0.000673 0.000017 0.000000 0.001043 19 3 0 0 3 9 1 0 3 1142 207 66 41 65 214 422 89 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4296 12762 134 110 244 0.0155814 0.024966 0.0187606 0.0155814 0.024966 0.0187606 162 transversion G T G>T 0.000 0.044 255 PASS 0.02 0.01 0.01 0.01 0.01 0.026 0.03 0.016 0.02 0.017 0.069 . . MDC1:NM_014641:exon10:c.C3672A:p.T1224T . . 0.5473684 . . @ 104 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 190.0 . . . 0.025 0.019 0.016 0.025 0.019 0.016 . -0.8947 . . . . . . . . 7.841e-03 . . . 0.0095 0.0095 0.0019 0.0050 0.0019 0.0070 0.0071 0.0254 0.0080 0.0076 0.0018 0.0023 0.0023 0.0051 0.0044 0.0254 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0298 . . . 0.18 0.08 182 ENSG00000137337 MDC1 MDC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs114458930 . . . . . . . 0.013736263736263736 0.024390243902439025 0.011049723756906077 0.006993006993006993 0.013192612137203167 III.77 0.025147 ENST00000417033 II.88 I.62 . . . . . . 0.018761 . . . . . 0.0078 0.0041 0.0021 0.0040 0.0040 0.0032 0.0031 0.0067 0.0087 0.0144 0.0094 0.0042 0.0157 0.0062 0.0065 0.0075 0.0139 . . . . -0.072 -0.072000 . . . . . 1.0E-255 . . . . . . . . . -0.072 . 0.025 . . rs114458930 rs114458930 1 1538 10 1/0 0,235,246 +rs149535951 6 30673351 C G - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution synonymous exon GRCh37 30673351 30673351 Chr6(GRCh37):g.30673351C>G 3609 3609 NM_014641.2:c.3609G>C p.Val1203= p.Val1203Val 10 607593 525 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 rs149535951 yes no Frequency/1000G 2 C 0.000000 0 0.029752 0.025700 0.068500 0.019800 0.016900 0.015900 0.003665 0.007105 0.001992 0.003766 0.003201 0.007779 0.002580 0.003185 0.006366 0.007779 975 160 67 36 59 217 316 81 39 266060 22518 33634 9560 18434 27894 122462 25432 6126 0.000098 0.000266 0.000000 0.000209 0.000108 0.000502 0.000000 0.000000 0.000326 13 3 0 1 1 7 0 0 1 949 154 67 34 57 203 316 81 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8522 4353 12875 78 53 131 0.00906977 0.0120291 0.0100723 0.00906977 0.0120291 0.0100723 167 transversion G C G>C 0.000 -0.844 V Val GTG 0.468 V Val GTC 0.240 1203 255 PASS . . . . . 0.026 0.03 0.016 0.02 0.017 0.069 . . MDC1:NM_014641:exon10:c.G3609C:p.V1203V . . 0.47639486 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 233.0 . . . 0.012 0.01 0.0091 0.012 0.01 0.0091 . -1.2260 . . . . . . . . 3.083e-03 . . . 0.0055 0.0038 0.0007 0.0032 0 0.0031 0.0014 0.0081 0.0037 0.0023 0.0005 0.0012 0.0009 0.0012 0 0.0080 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0298 . . . 0.26 0.07 182 ENSG00000137337 MDC1 MDC1 . . . . . . 910 0.0140052 64976 761 0.0126863 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs149535951 . . . . . . . . . . . . 6.0715 0.013644 ENST00000417033 III.15 -5.74 . . . . . . 0.010072 . . . . . 0.0070 0.0036 0.0020 0.0037 0.0033 0.0031 0.0026 0.0054 0.0078 0.0074 0.0044 0.0025 0.0074 0.0020 0.0036 0.0027 0.0122 . . . . -1.126 -1.126000 . . . . . 1.0E-255 . . . . . . . . . -1.126 . 0.012 . . rs149535951 rs149535951 1 1538 10 1/0 0,222,243 +rs149535951 6 30673351 C G - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673351 30673351 Chr6(GRCh37):g.30673351C>G 127+2381 127+2381 NR_133647.1:n.127+2381C>G p.? p.? 1 1 2381 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs149535951 yes no Frequency/1000G 2 C 0.000000 0 0.029752 0.025700 0.068500 0.019800 0.016900 0.015900 0.003665 0.007105 0.001992 0.003766 0.003201 0.007779 0.002580 0.003185 0.006366 0.007779 975 160 67 36 59 217 316 81 39 266060 22518 33634 9560 18434 27894 122462 25432 6126 0.000098 0.000266 0.000000 0.000209 0.000108 0.000502 0.000000 0.000000 0.000326 13 3 0 1 1 7 0 0 1 949 154 67 34 57 203 316 81 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8522 4353 12875 78 53 131 0.00906977 0.0120291 0.0100723 0.00906977 0.0120291 0.0100723 167 transversion C G C>G 0.000 -0.844 255 PASS . . . . . 0.026 0.03 0.016 0.02 0.017 0.069 . . MDC1:NM_014641:exon10:c.G3609C:p.V1203V . . 0.47639486 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 233.0 . . . 0.012 0.01 0.0091 0.012 0.01 0.0091 . -1.2260 . . . . . . . . 3.083e-03 . . . 0.0055 0.0038 0.0007 0.0032 0 0.0031 0.0014 0.0081 0.0037 0.0023 0.0005 0.0012 0.0009 0.0012 0 0.0080 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0298 . . . 0.26 0.07 182 ENSG00000137337 MDC1 MDC1 . . . . . . 910 0.0140052 64976 761 0.0126863 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs149535951 . . . . . . . . . . . . 6.0715 0.013644 ENST00000417033 III.15 -5.74 . . . . . . 0.010072 . . . . . 0.0070 0.0036 0.0020 0.0037 0.0033 0.0031 0.0026 0.0054 0.0078 0.0074 0.0044 0.0025 0.0074 0.0020 0.0036 0.0027 0.0122 . . . . -1.126 -1.126000 . . . . . 1.0E-255 . . . . . . . . . -1.126 . 0.012 . . rs149535951 rs149535951 1 1538 10 1/0 0,222,243 +rs143258964 6 30673359 T G - MDC1 21163 Mediator of DNA-damage checkpoint 1 NM_014641.2 -1 7368 6270 NP_055456.2 Q14676 substitution missense exon GRCh37 30673359 30673359 Chr6(GRCh37):g.30673359T>G 3601 3601 NM_014641.2:c.3601A>C p.Thr1201Pro p.Thr1201Pro 10 607593 517 3' 85.1198 13.4819 0.995312 13.99 85.1198 13.4819 0.995312 13.99 0 rs143258964 yes no Frequency/1000G 2 T 0.000000 0 0.029752 0.025700 0.068500 0.018800 0.016900 0.017300 0.003850 0.008114 0.002093 0.003805 0.003418 0.007847 0.002701 0.003236 0.006982 0.008114 991 168 67 36 60 216 322 81 41 257372 20704 32016 9460 17552 27528 119210 25030 5872 0.000085 0.000290 0.000000 0.000211 0.000000 0.000436 0.000000 0.000000 0.000341 11 3 0 1 0 6 0 0 1 969 162 67 34 60 204 322 81 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4353 12886 67 53 120 0.0077907 0.0120291 0.00922651 0.0077907 0.0120291 0.00922651 168 transversion A C A>C 0.000 -0.521 T Thr ACA 0.280 P Pro CCA 0.274 1201 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 255 PASS . . . . . 0.026 0.03 0.017 0.019 0.017 0.069 . . MDC1:NM_014641:exon10:c.A3601C:p.T1201P . . 0.47511312 . . @ 105 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.052 . . 221.0 . . . 0.012 0.0092 0.0078 0.012 0.0092 0.0078 . -2.0392 -1.996 -2.039 c . . . . . 2.641e-03 . . . 0.0051 0.0032 0.0006 0.0032 0 0.0028 0.0014 0.0057 0.0031 0.0018 0.0005 0.0012 0.0006 0.0010 0 0.0056 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.064 0.0298 . . . 0.25 0.07 182 ENSG00000137337 MDC1 MDC1 . . . 0.804 0.242 . 911 0.0140206 64976 761 0.0126863 59986 Likely_benign . 0 . 0.065 . . . . . . . . . 37 . 0.004 . . 0.449 . . . 0.013 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.165 . . 0.080 . . . . . . 1 0.042 . . . . . 0.012 . 0.299 . HET 0.19 rs143258964 . . . . . . . . . . . . 0.9246 0.013911 . III.35 -2.3 . 1.000000 . . . . 0.009227 . 0.009 . . . 0.0071 0.0037 0.0021 0.0037 0.0034 0.0031 0.0026 0.0059 0.0078 0.0105 0.0058 0.0028 0.0089 0.0031 0.0040 0.0035 0.0146 . . 0.730 . -0.392 -0.392000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.124 . 0.090 . 0.003 -0.392 -2.041 0.012 . . rs143258964 rs143258964 1 1538 10 1/0 0,224,244 +rs143258964 6 30673359 T G - MDC1-AS1 39764 MDC1 antisense RNA 1 NR_133647.1 1 738 0 substitution intron GRCh37 30673359 30673359 Chr6(GRCh37):g.30673359T>G 127+2389 127+2389 NR_133647.1:n.127+2389T>G p.? p.? 1 1 2389 5' 80.2281 6.70762 0.812259 7.38068 80.2281 6.70762 0.812259 7.38068 0 rs143258964 yes no Frequency/1000G 2 T 0.000000 0 0.029752 0.025700 0.068500 0.018800 0.016900 0.017300 0.003850 0.008114 0.002093 0.003805 0.003418 0.007847 0.002701 0.003236 0.006982 0.008114 991 168 67 36 60 216 322 81 41 257372 20704 32016 9460 17552 27528 119210 25030 5872 0.000085 0.000290 0.000000 0.000211 0.000000 0.000436 0.000000 0.000000 0.000341 11 3 0 1 0 6 0 0 1 969 162 67 34 60 204 322 81 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4353 12886 67 53 120 0.0077907 0.0120291 0.00922651 0.0077907 0.0120291 0.00922651 168 transversion T G T>G 0.000 -0.521 255 PASS . . . . . 0.026 0.03 0.017 0.019 0.017 0.069 . . MDC1:NM_014641:exon10:c.A3601C:p.T1201P . . 0.47511312 . . @ 105 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.052 . . 221.0 . . . 0.012 0.0092 0.0078 0.012 0.0092 0.0078 . -2.0392 -1.996 -2.039 c . . . . . 2.641e-03 . . . 0.0051 0.0032 0.0006 0.0032 0 0.0028 0.0014 0.0057 0.0031 0.0018 0.0005 0.0012 0.0006 0.0010 0 0.0056 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.058 . . exonic exonic exonic . . 0.064 0.0298 . . . 0.25 0.07 182 ENSG00000137337 MDC1 MDC1 . . . 0.804 0.242 . 911 0.0140206 64976 761 0.0126863 59986 Likely_benign . 0 . 0.065 . . . . . . . . . 37 . 0.004 . . 0.449 . . . 0.013 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.165 . . 0.080 . . . . . . 1 0.042 . . . . . 0.012 . 0.299 . HET 0.19 rs143258964 . . . . . . . . . . . . 0.9246 0.013911 . III.35 -2.3 . 1.000000 . . . . 0.009227 . 0.009 . . . 0.0071 0.0037 0.0021 0.0037 0.0034 0.0031 0.0026 0.0059 0.0078 0.0105 0.0058 0.0028 0.0089 0.0031 0.0040 0.0035 0.0146 . . 0.730 . -0.392 -0.392000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.124 . 0.090 . 0.003 -0.392 -2.041 0.012 . . rs143258964 rs143258964 1 1538 10 1/0 0,224,244 +rs201720765 6 31323072 G C - HLA-B 4932 Major histocompatibility complex, class I, B NM_005514.7 -1 1611 1089 NP_005505.2 P01889 substitution intron GRCh37 31323072 31323072 Chr6(GRCh37):g.31323072G>C 895+22 895+22 NM_005514.7:c.895+22C>G p.? p.? 4 4 142830 22 5' 82.9658 8.05386 0.983967 6.24325 82.9658 8.05386 0.983967 6.23314 0 rs201720765 yes no Frequency 1 G 0.000000 0 0.000958 0.003157 0.000573 0.000000 0.001253 0.000137 0.000693 0.002166 0.000689 0.003157 240 68 18 0 21 4 80 45 4 250544 21540 31416 9686 16758 29138 115430 20774 5802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240 68 18 0 21 4 80 45 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.893 187 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 189.0 . . . . . . . . . . 0.0976 . . . . . . . . 2.210e-04 . . . 0 0.0002 0 0.0007 0.0005 0.0001 0 0.0003 0 0.0002 0 0.0005 0.0006 7.48e-05 0 0.0003 . . . . . . intronic intronic ncRNA_exonic . . . @ . . . 0.18 0.22 182 ENSG00000234745 HLA-B MIR6891 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201720765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0.0003 0.0006 0.0001 0.0002 0.0001 0.0105 0.0089 0.0149 0 0.0200 0.0175 0.0058 0.0045 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs201720765 rs201720765 1 1538 10 1/0 0,201,255 +rs201720765 6 31323072 G C - MIR6891 50243 MicroRNA 6891 NR_106951.1 -1 93 0 substitution exon GRCh37 31323072 31323072 Chr6(GRCh37):g.31323072G>C 22 22 NR_106951.1:n.22C>G 1 rs201720765 yes no Frequency 1 G 0.000000 0 0.000958 0.003157 0.000573 0.000000 0.001253 0.000137 0.000693 0.002166 0.000689 0.003157 240 68 18 0 21 4 80 45 4 250544 21540 31416 9686 16758 29138 115430 20774 5802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 240 68 18 0 21 4 80 45 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.893 187 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 189.0 . . . . . . . . . . 0.0976 . . . . . . . . 2.210e-04 . . . 0 0.0002 0 0.0007 0.0005 0.0001 0 0.0003 0 0.0002 0 0.0005 0.0006 7.48e-05 0 0.0003 . . . . . . intronic intronic ncRNA_exonic . . . @ . . . 0.18 0.22 182 ENSG00000234745 HLA-B MIR6891 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201720765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0.0003 0.0006 0.0001 0.0002 0.0001 0.0105 0.0089 0.0149 0 0.0200 0.0175 0.0058 0.0045 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs201720765 rs201720765 1 1538 10 1/0 0,201,255 +rs41562914 6 31324602 T G - HLA-B 4932 Major histocompatibility complex, class I, B NM_005514.7 -1 1611 1089 NP_005505.2 P01889 substitution missense exon GRCh37 31324602 31324602 Chr6(GRCh37):g.31324602T>G 206 206 NM_005514.7:c.206A>C p.Glu69Ala p.Glu69Ala 2 142830 133 3' 82.6569 7.59013 0.945445 5.33485 82.6569 7.59013 0.945445 5.33485 0 MHC class I alpha chain, alpha1 alpha2 domains MHC classes I/II-like antigen recognition protein rs41562914 yes no Frequency/1000G 2 0.000000 0 0.268371 0.322200 0.370100 0.167700 0.200800 0.266600 0.000015 0.000000 0.000051 0.000000 0.000000 0.000079 0.000000 0.000000 0.000000 0.000079 2 0 1 0 0 1 0 0 0 132446 8272 19648 6308 7364 12622 64662 10562 3008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 137 Exomes COSM3253072|COSM3253072|COSM3253072|COSM3253072|COSM3253072 Upper aerodigestive tract|Thyroid|Soft tissue|Large intestine|Haematopoietic and lymphoid tissue 0.007326|0.001339|0.008850|0.000892|0.000262 1365|747|678|2241|3822 transversion A C A>C 0.000 -4.234 E Glu GAG 0.583 A Ala GCG 0.107 69 12 3 Northern white-cheeked gibbon -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 255.29 0.00 Tolerated 0.61 II.84 251 PASS . . . . . 0.32 0.27 0.27 0.17 0.2 0.37 . . HLA-B:NM_005514:exon2:c.A206C:p.E69A . . 0.30921054 . . @ 47 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.119 . @ . . . . . 1 0.023 . . 152.0 . . . . . . . . . . -1.9180 -2.068 -1.918 c . . . . . . . . . 0 2.242e-05 0 0 0 4.448e-05 0 0 0 7.454e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.018 0.2684 . . . 0.23 0.25 182 ENSG00000234745 HLA-B HLA-B . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.019 . . . . . . . . . 37 . 0.000 . . 0.321 . . . 0.035 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.050 . . 0 0 0 0 1 0 . 0.212 . . 0.446 . . . . . . 0 0.506 . . . . . 0.349 . 0.528 . HET 0.08 rs41562914 . . . . . . . . . . . . VIII.44 . . 3.II -6.41 . 0.430000 . . . . . . 0.026 . . . 0 1.51e-05 5.09e-05 0 0 0 0 0 7.923e-05 . . . . . . . . . . 0.969 . -4.011 -4.011000 . . 0.430000 . . 1.0E-251 0.000 0.063 . 0.062 0.068 . 0.002 . 0.077 -4.011 -1.375 . rs41562914 rs41562914 rs41562914 rs41562914 1 1538 10 1/0 0,227,255 +rs41562914 6 31324602 T G - MIR6891 50243 MicroRNA 6891 NR_106951.1 -1 93 0 substitution upstream GRCh37 31324602 31324602 Chr6(GRCh37):g.31324602T>G -1509 -1509 NR_106951.1:n.-1509A>C p.? p.? 1 rs41562914 yes no Frequency/1000G 2 0.000000 0 0.268371 0.322200 0.370100 0.167700 0.200800 0.266600 0.000015 0.000000 0.000051 0.000000 0.000000 0.000079 0.000000 0.000000 0.000000 0.000079 2 0 1 0 0 1 0 0 0 132446 8272 19648 6308 7364 12622 64662 10562 3008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 137 Exomes COSM3253072|COSM3253072|COSM3253072|COSM3253072|COSM3253072 Upper aerodigestive tract|Thyroid|Soft tissue|Large intestine|Haematopoietic and lymphoid tissue 0.007326|0.001339|0.008850|0.000892|0.000262 1365|747|678|2241|3822 transversion A C A>C 0.000 -4.234 251 PASS . . . . . 0.32 0.27 0.27 0.17 0.2 0.37 . . HLA-B:NM_005514:exon2:c.A206C:p.E69A . . 0.30921054 . . @ 47 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.119 . @ . . . . . 1 0.023 . . 152.0 . . . . . . . . . . -1.9180 -2.068 -1.918 c . . . . . . . . . 0 2.242e-05 0 0 0 4.448e-05 0 0 0 7.454e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.018 0.2684 . . . 0.23 0.25 182 ENSG00000234745 HLA-B HLA-B . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.019 . . . . . . . . . 37 . 0.000 . . 0.321 . . . 0.035 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.050 . . 0 0 0 0 1 0 . 0.212 . . 0.446 . . . . . . 0 0.506 . . . . . 0.349 . 0.528 . HET 0.08 rs41562914 . . . . . . . . . . . . VIII.44 . . 3.II -6.41 . 0.430000 . . . . . . 0.026 . . . 0 1.51e-05 5.09e-05 0 0 0 0 0 7.923e-05 . . . . . . . . . . 0.969 . -4.011 -4.011000 . . 0.430000 . . 1.0E-251 0.000 0.063 . 0.062 0.068 . 0.002 . 0.077 -4.011 -1.375 . rs41562914 rs41562914 rs41562914 rs41562914 1 1538 10 1/0 0,227,255 +. 6 31380161 G GCTGCT - MICA 7090 MHC class I polypeptide-related sequence A NM_001177519.2 1 1398 999 NP_001170990.1 insertion frameshift exon GRCh37 31380161 31380162 Chr6(GRCh37):g.31380161_31380162insCTGCT 952 953 NM_001177519.2:c.952_953insCTGCT p.Gly318Alafs*70 p.Gly318Alafs*70 5 600169 60 3' 94.7099 7.00521 0.934716 7.86242 94.7099 7.00521 0.934716 7.04829 0 rs41293539 yes no Frequency/1000G 2 benign 0.233826 CT 1171 CTGCT 255 Pass . . . . . . . . . . . . . . . . 0.5714286 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 42 . . . . . . . . . . . . . . . . . . . 1.433e-03 . . . 0.0005 0.0006 0.0010 0 0.0012 0.0006 0 0.0005 0.0006 0.0007 0.0010 0 0.0005 0.0008 0 0.0005 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic\x3bsplicing . . . . . . . . . . ENSG00000204520 MICA MICA\x3bMICA . . NM_000247:exon6:c.949-1->CTGCT . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1.I 0,12,24 +rs392610 6 31952180 C A - C4A 1323 Complement component 4A (Rodgers blood group) NM_007293.2 1 5426 5235 NP_009224.2 P0C0L4 substitution missense exon GRCh37 31952180 31952180 Chr6(GRCh37):g.31952180C>A 1040 1040 NM_007293.2:c.1040C>A p.Ser347Tyr p.Ser347Tyr 9 120810 -6 5' 85.557 8.56441 0.862816 6.56628 85.557 8.56441 0.882033 6.48572 0.00742414 rs392610 yes no Frequency 1 C 0.000000 0 COSM3684226 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 1.000 2.627 S Ser TCT 0.185 Y Tyr TAT 0.438 347 13 6 Opossum -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 353.86 0.00 Tolerated 0.1 II.64 good 6.888E-1 0.6751 255 PASS . . . . . . . . . . . . . . . . 0.52380955 . . @ 55 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.764 . @ . . . . . 1 0.653 . . 105.0 . . . . . . . . . . 0.6295 0.546 0.630 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.511 @ . . . 0.47 0.46 182 ENSG00000244731 . . . . . 0.738 0.231 . . . . . . . Uncertain_significance . 0 . 0.231 . . . . D 0.810 0.128 . . 37 . 0.626 . . 0.612 . . . 0.848 0.291 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.643 . . 0 0 0 0 0 0 . 0.689 . . 0.639 . . . . . . 3 0.531 . . . . . 0.556 . 0.596 . HET 0.02 . 0.065 0.087 . . . . . . . . . . XII.05 . . IV.34 IV.34 . 0.040000 . . . . . . 0.630 . . IV.34 . . . . . . . . . . . . . . . . . . . 0.246 . 2.417 2.417000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.653 0.998 . 0.556 . 0.362 2.417 0.871 0.065 rs392610 rs392610 rs392610 rs150969927 1 1538 10 1/0 0,255,255 +rs149464899 6 31963026 T C - C4A 1323 Complement component 4A (Rodgers blood group) NM_007293.2 1 5426 5235 NP_009224.2 P0C0L4 substitution intron GRCh37 31963026 31963026 Chr6(GRCh37):g.31963026T>C 2944+55 2944+55 NM_007293.2:c.2944+55T>C p.? p.? 23 23 120810 55 5' 80.2281 6.70762 0.792526 3.71207 80.2281 6.70762 0.792526 3.75227 0 rs149464899 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.5714286 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.1160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.37 182 ENSG00000244731 C4B_2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3115529 rs3115529 rs3115529 rs149464899 1 1538 10 1/0 0,251,255 +. 6 31970003 G A - C4A 1323 Complement component 4A (Rodgers blood group) NM_007293.2 1 5426 5235 NP_009224.2 P0C0L4 substitution synonymous exon GRCh37 31970003 31970003 Chr6(GRCh37):g.31970003G>A 5064 5064 NM_007293.2:c.5064G>A p.Leu1688= p.Leu1688Leu 40 120810 -30 5' 74.2807 8.34018 0.748954 4.28418 74.2807 8.34018 0.748954 3.75865 0 New Acceptor Site 31970005 III.37 0.015948 62.852 Netrin module, non-TIMP type Netrin domain transition G A G>A 0.984 0.609 L Leu CTG 0.404 L Leu CTA 0.070 1688 255 PASS . . . . . . . . . . . . . . . . 0.4852071 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . 0.9587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.33 182 ENSG00000244731 C4B_2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs4600 rs4600 rs4600 rs4600 1 1538 10 1/0 0,234,250 +rs139889867 6 31984918 C A - C4B 1324 Complement component 4B (Chido blood group) NM_001002029.3 1 5427 5235 NP_001002029.3 P0C0L5 substitution missense exon GRCh37 31984918 31984918 Chr6(GRCh37):g.31984918C>A 1040 1040 NM_001002029.3:c.1040C>A p.Ser347Tyr p.Ser347Tyr 9 120820 -6 5' 85.557 8.56441 0.862816 6.56628 85.557 8.56441 0.882033 6.48572 0.00742414 rs139889867 no no 0 C 0.000000 0 COSM3684245|COSM3684245 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transversion C A C>A 1.000 1.820 S Ser TCT 0.185 Y Tyr TAT 0.438 347 13 6 Opossum -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 353.86 0.00 Tolerated 0.1 II.64 good 6.885E-1 0.6749 255 PASS . . . . . . . . . . . . . . . . 0.44144145 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.757 . @ . . . . . 1 0.515 . . 111.0 . . . . . . . . . . 0.4684 0.357 0.468 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.327 @ . . . 0.46 0.41 182 ENSG00000224389 . . . . . 0.008 0.116 . . . . . . . Uncertain_significance . 0 . 0.231 . . . . T 0.274 0.011 . . 37 . 0.427 . . 0.138 . . . 0.848 0.261 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.623 . . 0 0 0 0 0 0 . 0.899 . . 0.728 . . . . . . 2 0.353 . . . . . 0.353 . 0.475 . HET 0.08 . 0.065 0.087 . . . . . . . . . . 9.0487 . . 2.IX 2.IX . 0.090000 . . . . . . 0.414 . . 2.IX . . . . . . . . . . . . . . . . . . . 0.246 . 1.435 1.435000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.536 0.997 . 0.543 . 0.289 1.435 0.871 0.065 rs392610 rs392610 rs392610 rs139889867 1 1538 10 1/0 0,255,255 +rs139889867 (chr6:31984918 C/A) 6 31984918 C A Transcript NM_001242823.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) C4B_2 +rs139889867 6 31984918 C A - CYP21A1P 2599 Cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene XR_247415.1 1 2500 0 substitution upstream GRCh37 31984918 31984918 Chr6(GRCh37):g.31984918C>A -18373 -18373 XR_247415.1:n.-18373C>A p.? p.? 1 -19079 5' 66.8275 3.75443 0.138572 1.53235 66.8275 3.75443 0.138572 1.53235 0 rs139889867 no no 0 C 0.000000 0 COSM3684245|COSM3684245 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transversion C A C>A 1.000 1.820 255 PASS . . . . . . . . . . . . . . . . 0.44144145 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.757 . @ . . . . . 1 0.515 . . 111.0 . . . . . . . . . . 0.4684 0.357 0.468 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.327 @ . . . 0.46 0.41 182 ENSG00000224389 . . . . . 0.008 0.116 . . . . . . . Uncertain_significance . 0 . 0.231 . . . . T 0.274 0.011 . . 37 . 0.427 . . 0.138 . . . 0.848 0.261 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.623 . . 0 0 0 0 0 0 . 0.899 . . 0.728 . . . . . . 2 0.353 . . . . . 0.353 . 0.475 . HET 0.08 . 0.065 0.087 . . . . . . . . . . 9.0487 . . 2.IX 2.IX . 0.090000 . . . . . . 0.414 . . 2.IX . . . . . . . . . . . . . . . . . . . 0.246 . 1.435 1.435000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.536 0.997 . 0.543 . 0.289 1.435 0.871 0.065 rs392610 rs392610 rs392610 rs139889867 1 1538 10 1/0 0,255,255 +rs3115529 6 31995764 T C - C4B 1324 Complement component 4B (Chido blood group) NM_001002029.3 1 5427 5235 NP_001002029.3 P0C0L5 substitution intron GRCh37 31995764 31995764 Chr6(GRCh37):g.31995764T>C 2944+55 2944+55 NM_001002029.3:c.2944+55T>C p.? p.? 23 23 120820 55 5' 80.2281 6.70762 0.792526 3.71207 80.2281 6.70762 0.792526 3.75227 0 rs3115529 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.496063 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . 0.2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.47 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3115529 rs3115529 rs3115529 rs137910419 1 1538 10 1/0 0,249,255 +rs3115529 6 31995764 T C - C4B_2 42398 Complement component 4B (Chido blood group), copy 2 NM_001242823.2 1 5427 5235 NP_001229752.1 P0C0L5 substitution intron GRCh37 31995764 31995764 Chr6(GRCh37):g.31995764T>C 2944+55 2944+55 NM_001242823.2:c.2944+55T>C p.? p.? 23 23 55 5' 80.2281 6.70762 0.792526 3.71207 80.2281 6.70762 0.792526 3.75227 0 rs3115529 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.496063 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . 0.2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.47 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3115529 rs3115529 rs3115529 rs137910419 1 1538 10 1/0 0,249,255 +rs3115529 6 31995764 T C - CYP21A1P 2599 Cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene XR_247415.1 1 2500 0 substitution upstream GRCh37 31995764 31995764 Chr6(GRCh37):g.31995764T>C -7527 -7527 XR_247415.1:n.-7527T>C p.? p.? 1 -8233 5' 66.8275 3.75443 0.138572 1.53235 66.8275 3.75443 0.138572 1.53235 0 rs3115529 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.496063 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . 0.2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.47 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3115529 rs3115529 rs3115529 rs137910419 1 1538 10 1/0 0,249,255 +. 6 32002740 G A - C4B 1324 Complement component 4B (Chido blood group) NM_001002029.3 1 5427 5235 NP_001002029.3 P0C0L5 substitution synonymous exon GRCh37 32002740 32002740 Chr6(GRCh37):g.32002740G>A 5064 5064 NM_001002029.3:c.5064G>A p.Leu1688= p.Leu1688Leu 40 120820 -30 5' 74.2807 8.34018 0.748954 4.28418 74.2807 8.34018 0.748954 3.75865 0 New Acceptor Site 32002742 III.37 0.015948 62.852 Netrin module, non-TIMP type Netrin domain COSM4003958 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 1.000 1.013 L Leu CTG 0.404 L Leu CTA 0.070 1688 255 PASS . . . . . . . . . . . . . . . . 0.5151515 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . I.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.39 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs4600 rs4600 rs4600 rs4600 1 1538 10 1/0 0,245,255 +. (chr6:32002740 G/A) 6 32002740 G A Transcript NM_001242823.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) C4B_2 +. 6 32002740 G A - CYP21A1P 2599 Cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene XR_247415.1 1 2500 0 substitution upstream GRCh37 32002740 32002740 Chr6(GRCh37):g.32002740G>A -551 -551 XR_247415.1:n.-551G>A p.? p.? 1 -1257 5' 66.8275 3.75443 0.138572 1.53235 66.8275 3.75443 0.138572 1.53235 0 New Acceptor Site 32002742 III.37 0.015948 62.852 COSM4003958 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 1.000 1.013 255 PASS . . . . . . . . . . . . . . . . 0.5151515 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . I.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.39 182 ENSG00000224389 C4B_2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs4600 rs4600 rs4600 rs4600 1 1538 10 1/0 0,245,255 +rs542628764 6 32012979 G A - TNXB 11976 Tenascin XB ENST00000375244.7 -1 13132 12735 ENSP00000364393 substitution synonymous exon GRCh37 32012979 32012979 Chr6(GRCh37):g.32012979G>A 10731 10731 ENST00000375244.7:c.10731C>T p.Ser3577= p.Ser3577Ser 32 600985 125 3' 79.8979 7.87989 0.123574 6.37944 79.8979 7.87989 0.123574 6.37944 0 Fibronectin, type III rs542628764 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.005100 0.000000 0.000000 0.000000 0.000395 0.000000 0.000000 0.000000 0.000000 0.003349 0.000033 0.000039 0.000000 0.003349 107 0 0 0 0 102 4 1 0 270570 22736 34278 9992 18730 30456 122320 25698 6360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 107 0 0 0 0 102 4 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -6.413 S Ser AGC 0.243 S Ser AGT 0.149 3577 244 PASS . . . . . . 0.001 . . . 0.0051 . . . . . 0.2848837 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . 0.1774 . . . . . . . . 6.107e-04 . . . 0 0.0009 0 0.0002 0 2.797e-05 0 0.0043 0 0.0007 0 0.0001 0 2.029e-05 0 0.0043 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . . . . ENSG00000168477 TNXB TNXB . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 4.503e-05 2.794e-05 0 0.0033 0 3.236e-05 0 0 0 0 6.687e-05 0 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +. 6 32039866 T G - TNXB 11976 Tenascin XB ENST00000375244.7 -1 13132 12735 ENSP00000364393 substitution missense exon GRCh37 32039866 32039866 Chr6(GRCh37):g.32039866T>G 4891 4891 ENST00000375244.7:c.4891A>C p.Thr1631Pro p.Thr1631Pro 13 600985 -100 5' 81.348 7.62374 0.777591 9.12592 81.348 7.62374 0.777591 9.12592 0 Fibronectin, type III transversion A C A>C 0.992 2.869 T Thr ACT 0.243 P Pro CCT 0.283 1631 12 2 Dog -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . TNXB:uc003nzl.2:exon13:c.A4891C:p.T1631P TNXB:NM_019105:exon13:c.A4891C:p.T1631P . . 0.53913045 . . @ 124 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.762 . @ . . . . . 1 0.811 . . 230.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Cct|T1631P|TNXB|mRNA|CODING|NM_019105.6|NM_019105.6.ex.13) . . . . . . . 0.7397 0.650 0.740 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.615 . . exonic exonic exonic . . 0.740 @ . . . . . . ENSG00000168477 TNXB TNXB . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.329 . . . . T 0.344 0.014 . . 37 . 0.741 . . 0.756 . . . 0.859 0.289 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.685 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.450 . . . . . 0.564 . 0.732 . HET 0.01 . . . . . . . . . . . . . 12.728 . . V.28 V.28 . 0.040000 P22105-3 . . . . . 0.447 . . V.28 . . . . . . . . . . . . . . . . . . . 0.450 . 2.000 2.000000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.331 0.807 . 0.343 . 0.635 2.000 0.991 . . . . . 1 1538 10 1/0 0,225,237 +rs763075781 6 32041456 C T - TNXB 11976 Tenascin XB ENST00000375244.7 -1 13132 12735 ENSP00000364393 substitution missense exon GRCh37 32041456 32041456 Chr6(GRCh37):g.32041456C>T 4649 4649 ENST00000375244.7:c.4649G>A p.Arg1550His p.Arg1550His 12 600985 -33 5' 86.6769 9.89081 0.991907 11.895 86.6769 9.89081 0.991907 XI.84 0 Fibronectin, type III rs763075781 yes no Frequency 1 C 0.000000 0 0.000037 0.000000 0.000000 0.000000 0.000000 0.000066 0.000065 0.000000 0.000000 0.000066 10 0 0 0 0 2 8 0 0 271358 22798 34270 9994 18748 30508 122924 25750 6366 0.000007 0.000000 0.000000 0.000000 0.000000 0.000066 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 8 0 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.367 R Arg CGC 0.190 H His CAC 0.587 1550 12 2 Dog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . TNXB:uc003nzl.2:exon12:c.G4649A:p.R1550H TNXB:NM_019105:exon12:c.G4649A:p.R1550H . . 0.4391892 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.434 . @ . . . . . 1 0.438 . . 148.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1550H|TNXB|mRNA|CODING|NM_019105.6|NM_019105.6.ex.12) . . . . . . . -0.5627 -0.677 -0.563 c . . . . . 4.084e-05 . . . 0 3.682e-05 0 0 0 8.013e-05 0 0 0 1.016e-05 0 0 0 1.967e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.542 . . exonic exonic exonic . . 0.231 @ . . . . . . ENSG00000168477 TNXB TNXB . . . 0.806 0.242 . . . . . . . Uncertain_significance . 0 . 0.234 . . . . T 0.338 0.014 . . 37 . 0.425 . . 0.511 . . . 0.558 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.217 . . 0.256 . . . . . . 0 0.654 . . . . . 0.310 . 0.143 . HET 0 . . . . . . . . . . . . . VIII.67 . . V.46 I.68 . 0.020000 P22105-3 . . . . . 0.070 . . . 0 3.327e-05 0 0 0 0 5.557e-05 0 6.556e-05 0 6.478e-05 0 0 0 0 0.0001 0 . . 0.450 . 0.009 0.009000 . . 0.020000 . . 1.0E-255 0.002 0.151 . 0.074 0.137 . 0.143 . 0.403 0.009 0.871 . . . . . 1 1538 10 1/0 0,238,255 +rs3180799 (chr6:32546802 C/A) 6 32546802 C A Transcript NM_001243965.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB1 +rs3180799 6 32546802 C A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution 3'UTR GRCh37 32546802 32546802 Chr6(GRCh37):g.32546802C>A *66 *66 NM_022555.3:c.*66G>T p.? p.? 6 612735 80 3' 95.3127 13.7537 0.989568 XII.38 95.3127 13.7537 0.989568 XII.89 0 rs796306073 no no 0 0.000000 0 transversion G T G>T 0.000 -0.037 215 PASS . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.G212T:p.C71F . . . 0.2 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.0366 . . . . . . . . 1.082e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . 0.38 0.73 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*66G>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3180799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs3180799 rs3180799 rs3180799 rs3180799 1 1538 10 1/0 0,242,255 +rs3180799 6 32546802 C A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution 3'UTR GRCh37 32546802 32546802 Chr6(GRCh37):g.32546802C>A *66 *66 NM_021983.4:c.*66G>T p.? p.? 6 80 3' 95.3127 13.7863 0.98963 13.1561 95.3127 13.7863 0.98963 13.0324 0 rs3180799 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.000 -0.037 215 PASS . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.G212T:p.C71F . . . 0.2 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.0366 . . . . . . . . 1.082e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . 0.38 0.73 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*66G>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3180799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs3180799 rs3180799 rs3180799 rs3180799 1 1538 10 1/0 0,242,255 +. 6 32546851 ATG A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 deletion 3'UTR GRCh37 32546852 32546853 Chr6(GRCh37):g.32546852_32546853del *15 *16 NM_001243965.1:c.*15_*16del p.? p.? 6 142857 29 3' 95.3127 13.7537 0.989568 XII.91 95.3127 13.7537 0.989568 12.0145 0 rs760049502 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104460 5960 10680 3658 5338 13406 50416 12602 2400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes CA 255 Pass . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.161_162del:p.T54fs . . . 0.2747253 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . UTR3 exonic UTR3 . . . . . . . . . . ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*16_*15delCA . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372075270 rs372075270 1 1538 10 1.I 0,10,56 +. 6 32546851 ATG A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 deletion 3'UTR GRCh37 32546852 32546853 Chr6(GRCh37):g.32546852_32546853del *15 *16 NM_022555.3:c.*15_*16del p.? p.? 6 612735 29 3' 95.3127 13.7537 0.989568 XII.38 95.3127 13.7537 0.989568 XI.64 0 rs760049502 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104460 5960 10680 3658 5338 13406 50416 12602 2400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes CA 255 Pass . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.161_162del:p.T54fs . . . 0.2747253 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . UTR3 exonic UTR3 . . . . . . . . . . ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*16_*15delCA . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372075270 rs372075270 1 1538 10 1.I 0,10,56 +. 6 32546851 ATG A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 deletion 3'UTR GRCh37 32546852 32546853 Chr6(GRCh37):g.32546852_32546853del *15 *16 NM_021983.4:c.*15_*16del p.? p.? 6 29 3' 95.3127 13.7863 0.98963 13.1561 95.3127 13.7863 0.98963 12.317 0 rs760049502 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104460 5960 10680 3658 5338 13406 50416 12602 2400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes CA 255 Pass . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.161_162del:p.T54fs . . . 0.2747253 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . UTR3 exonic UTR3 . . . . . . . . . . ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*16_*15delCA . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372075270 rs372075270 1 1538 10 1.I 0,10,56 +rs201099263 6 32546855 G T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 3'UTR GRCh37 32546855 32546855 Chr6(GRCh37):g.32546855G>T *13 *13 NM_001243965.1:c.*13C>A p.? p.? 6 142857 27 3' 95.3127 13.7537 0.989568 XII.91 95.3127 13.7537 0.989568 XII.24 0 rs201099263 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.924 255 PASS . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.C159A:p.T53T . . . 0.27173913 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . . . . . . . -0.3475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . 0.41 0.69 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*13C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201099263 rs201099263 1 1538 10 1/0 0,255,255 +rs201099263 (chr6:32546855 G/T) 6 32546855 G T Transcript NM_022555.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB3 +rs201099263 6 32546855 G T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution 3'UTR GRCh37 32546855 32546855 Chr6(GRCh37):g.32546855G>T *13 *13 NM_021983.4:c.*13C>A p.? p.? 6 27 3' 95.3127 13.7863 0.98963 13.1561 95.3127 13.7863 0.98963 13.1794 0 rs201099263 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.924 255 PASS . . . . . . . . . . . . HLA-DRB1:uc011dqb.1:exon2:c.C159A:p.T53T . . . 0.27173913 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . . . . . . . -0.3475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . 0.41 0.69 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 ENST00000360004:c.*13C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201099263 rs201099263 1 1538 10 1/0 0,255,255 +rs9269754 6 32548167 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548167 32548167 Chr6(GRCh37):g.32548167A>G 764-120 764-120 NM_001243965.1:c.764-120T>C p.? p.? 5 4 142857 -120 3' 91.7061 X.42 0.977372 9.40066 91.7061 X.42 0.977372 9.40066 0 Cryptic Donor Strongly Activated 32548165 0.873523 0.019557 67.8061 3.12146 0.041332 71.9341 rs9269754 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.812 250 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.3523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.23 0.39 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.185 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.18 rs34525481 rs9269754 rs9269754 rs9269754 1 1538 10 1/0 0,255,255 +rs9269754 6 32548167 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548167 32548167 Chr6(GRCh37):g.32548167A>G 764-120 764-120 NM_022555.3:c.764-120T>C p.? p.? 5 4 612735 -120 3' 91.7061 X.42 0.977372 9.48389 91.7061 X.42 0.977372 9.48389 0 Cryptic Donor Strongly Activated 32548165 0.873523 0.019557 67.8061 3.12146 0.041332 71.9341 rs9269754 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.812 250 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.3523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.23 0.39 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.185 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.18 rs34525481 rs9269754 rs9269754 rs9269754 1 1538 10 1/0 0,255,255 +rs9269754 6 32548167 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548167 32548167 Chr6(GRCh37):g.32548167A>G 764-120 764-120 NM_021983.4:c.764-120T>C p.? p.? 5 4 -120 3' 91.7061 X.42 0.977372 9.48389 91.7061 X.42 0.977372 9.48389 0 Cryptic Donor Strongly Activated 32548165 0.873523 0.019557 67.8061 3.12146 0.041332 71.9341 rs9269754 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.812 250 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.3523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.23 0.39 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.185 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.18 rs34525481 rs9269754 rs9269754 rs9269754 1 1538 10 1/0 0,255,255 +rs9269755 6 32548178 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548178 32548178 Chr6(GRCh37):g.32548178A>G 764-131 764-131 NM_001243965.1:c.764-131T>C p.? p.? 5 4 142857 -131 3' 91.7061 X.42 0.977372 9.40066 91.7061 X.42 0.977372 9.40066 0 rs9269755 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -0.279 255 PASS 0.73 0.73 0.73 0.75 0.7 . . . . . . . . . . . 0.5 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.0404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 44130 0.679174 64976 40783 0.679875 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.380 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs35432291 rs35432291 rs9269755 rs9269755 1 1538 10 1/0 0,255,255 +rs9269755 6 32548178 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548178 32548178 Chr6(GRCh37):g.32548178A>G 764-131 764-131 NM_022555.3:c.764-131T>C p.? p.? 5 4 612735 -131 3' 91.7061 X.42 0.977372 9.48389 91.7061 X.42 0.977372 9.48389 0 rs9269755 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -0.279 255 PASS 0.73 0.73 0.73 0.75 0.7 . . . . . . . . . . . 0.5 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.0404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 44130 0.679174 64976 40783 0.679875 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.380 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs35432291 rs35432291 rs9269755 rs9269755 1 1538 10 1/0 0,255,255 +rs9269755 6 32548178 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548178 32548178 Chr6(GRCh37):g.32548178A>G 764-131 764-131 NM_021983.4:c.764-131T>C p.? p.? 5 4 -131 3' 91.7061 X.42 0.977372 9.48389 91.7061 X.42 0.977372 9.48389 0 rs9269755 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -0.279 255 PASS 0.73 0.73 0.73 0.75 0.7 . . . . . . . . . . . 0.5 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.0404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 44130 0.679174 64976 40783 0.679875 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.380 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs35432291 rs35432291 rs9269755 rs9269755 1 1538 10 1/0 0,255,255 +rs3830122 6 32548686 C A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548686 32548686 Chr6(GRCh37):g.32548686C>A 653-53 653-53 NM_001243965.1:c.653-53G>T p.? p.? 4 3 142857 -53 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.30773 0 Cryptic Acceptor Strongly Activated 32548678 2.3e-05 0.73708 0.000218 68.8288 rs3830122 yes no Frequency/1000G 2 A 0.000000 0 transversion G T G>T 0.000 -1.651 216 PASS . . . . . . . . . . . . . . . . 0.2037037 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.4020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.41 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.391 0.449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.39 rs3830122 rs3830122 rs3830122 rs3830122 1 1538 10 1/0 0,255,255 +rs3830122 6 32548686 C A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548686 32548686 Chr6(GRCh37):g.32548686C>A 653-53 653-53 NM_022555.3:c.653-53G>T p.? p.? 4 3 612735 -53 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.30773 0 Cryptic Acceptor Strongly Activated 32548678 2.3e-05 0.73708 0.000218 68.8288 rs3830122 yes no Frequency/1000G 2 A 0.000000 0 transversion G T G>T 0.000 -1.651 216 PASS . . . . . . . . . . . . . . . . 0.2037037 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.4020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.41 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.391 0.449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.39 rs3830122 rs3830122 rs3830122 rs3830122 1 1538 10 1/0 0,255,255 +rs3830122 6 32548686 C A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548686 32548686 Chr6(GRCh37):g.32548686C>A 653-53 653-53 NM_021983.4:c.653-53G>T p.? p.? 4 3 -53 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.12 0 Cryptic Acceptor Strongly Activated 32548678 2.3e-05 0.73708 0.000218 68.8288 rs3830122 yes no Frequency/1000G 2 A 0.000000 0 transversion G T G>T 0.000 -1.651 216 PASS . . . . . . . . . . . . . . . . 0.2037037 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.4020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.21 0.41 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.391 0.449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.39 rs3830122 rs3830122 rs3830122 rs3830122 1 1538 10 1/0 0,255,255 +rs9269766 6 32548703 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548703 32548703 Chr6(GRCh37):g.32548703T>C 653-70 653-70 NM_001243965.1:c.653-70A>G p.? p.? 4 3 142857 -70 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.07577 0 rs9269766 yes no Frequency/1000G 2 C 0.000000 0 0.850040 0.873700 0.743400 0.837300 0.877700 0.933700 transition A G A>G 0.000 -1.489 255 PASS . . . . . 0.87 0.85 0.93 0.84 0.88 0.74 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1500 . . . 0.23 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.663 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.66 rs9269766 rs9269766 rs9269766 rs9269766 1 1538 10 1/0 0,255,255 +rs9269766 6 32548703 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548703 32548703 Chr6(GRCh37):g.32548703T>C 653-70 653-70 NM_022555.3:c.653-70A>G p.? p.? 4 3 612735 -70 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.07577 0 rs9269766 yes no Frequency/1000G 2 C 0.000000 0 0.850040 0.873700 0.743400 0.837300 0.877700 0.933700 transition A G A>G 0.000 -1.489 255 PASS . . . . . 0.87 0.85 0.93 0.84 0.88 0.74 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1500 . . . 0.23 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.663 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.66 rs9269766 rs9269766 rs9269766 rs9269766 1 1538 10 1/0 0,255,255 +rs9269766 6 32548703 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548703 32548703 Chr6(GRCh37):g.32548703T>C 653-70 653-70 NM_021983.4:c.653-70A>G p.? p.? 4 3 -70 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 10.0093 0 rs9269766 yes no Frequency/1000G 2 C 0.000000 0 0.850040 0.873700 0.743400 0.837300 0.877700 0.933700 transition A G A>G 0.000 -1.489 255 PASS . . . . . 0.87 0.85 0.93 0.84 0.88 0.74 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.1900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1500 . . . 0.23 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.663 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.66 rs9269766 rs9269766 rs9269766 rs9269766 1 1538 10 1/0 0,255,255 +rs9269767 6 32548722 C A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548722 32548722 Chr6(GRCh37):g.32548722C>A 653-89 653-89 NM_001243965.1:c.653-89G>T p.? p.? 4 3 142857 -89 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 Cryptic Acceptor Weakly Activated 32548707 6.75002 0.055637 69.2987 7.06215 0.183023 69.2987 rs9269767 yes no Frequency/1000G 2 C 0.000000 0 transversion G T G>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5660377 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.0555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.17 0.35 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.630 0.587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9269767 rs9269767 rs9269767 rs9269767 1 1538 10 1/0 0,255,255 +rs9269767 6 32548722 C A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548722 32548722 Chr6(GRCh37):g.32548722C>A 653-89 653-89 NM_022555.3:c.653-89G>T p.? p.? 4 3 612735 -89 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 Cryptic Acceptor Weakly Activated 32548707 6.75002 0.055637 69.2987 7.06215 0.183023 69.2987 rs9269767 yes no Frequency/1000G 2 C 0.000000 0 transversion G T G>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5660377 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.0555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.17 0.35 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.630 0.587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9269767 rs9269767 rs9269767 rs9269767 1 1538 10 1/0 0,255,255 +rs9269767 6 32548722 C A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548722 32548722 Chr6(GRCh37):g.32548722C>A 653-89 653-89 NM_021983.4:c.653-89G>T p.? p.? 4 3 -89 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 Cryptic Acceptor Weakly Activated 32548707 6.75002 0.055637 69.2987 7.06215 0.183023 69.2987 rs9269767 yes no Frequency/1000G 2 C 0.000000 0 transversion G T G>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5660377 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.0555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.17 0.35 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.630 0.587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9269767 rs9269767 rs9269767 rs9269767 1 1538 10 1/0 0,255,255 +rs9269768 6 32548727 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548727 32548727 Chr6(GRCh37):g.32548727A>G 653-94 653-94 NM_001243965.1:c.653-94T>C p.? p.? 4 3 142857 -94 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 rs9269768 yes no Frequency/1000G 2 G 0.000000 0 0.827077 0.858500 0.736200 0.788700 0.862800 0.899100 transition T C T>C 0.000 -0.198 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5686275 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 0.0299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1729 . . . 0.2 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269768 0.326 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs9269768 rs9269768 rs9269768 rs9269768 1 1538 10 1/0 0,255,255 +rs9269768 6 32548727 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548727 32548727 Chr6(GRCh37):g.32548727A>G 653-94 653-94 NM_022555.3:c.653-94T>C p.? p.? 4 3 612735 -94 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 rs9269768 yes no Frequency/1000G 2 G 0.000000 0 0.827077 0.858500 0.736200 0.788700 0.862800 0.899100 transition T C T>C 0.000 -0.198 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5686275 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 0.0299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1729 . . . 0.2 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269768 0.326 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs9269768 rs9269768 rs9269768 rs9269768 1 1538 10 1/0 0,255,255 +rs9269768 6 32548727 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548727 32548727 Chr6(GRCh37):g.32548727A>G 653-94 653-94 NM_021983.4:c.653-94T>C p.? p.? 4 3 -94 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 rs9269768 yes no Frequency/1000G 2 G 0.000000 0 0.827077 0.858500 0.736200 0.788700 0.862800 0.899100 transition T C T>C 0.000 -0.198 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5686275 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 0.0299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1729 . . . 0.2 0.34 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269768 0.326 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs9269768 rs9269768 rs9269768 rs9269768 1 1538 10 1/0 0,255,255 +rs9269769 6 32548728 G T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548728 32548728 Chr6(GRCh37):g.32548728G>T 653-95 653-95 NM_001243965.1:c.653-95C>A p.? p.? 4 3 142857 -95 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 rs9269769 no no 0 G 0.000000 0 transversion C A C>A 0.000 -1.489 245 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . rs9269769 rs9269769 rs9269769 rs9269769 1 1538 10 1/0 0,255,255 +rs9269769 6 32548728 G T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548728 32548728 Chr6(GRCh37):g.32548728G>T 653-95 653-95 NM_022555.3:c.653-95C>A p.? p.? 4 3 612735 -95 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 rs9269769 no no 0 G 0.000000 0 transversion C A C>A 0.000 -1.489 245 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . rs9269769 rs9269769 rs9269769 rs9269769 1 1538 10 1/0 0,255,255 +rs9269769 6 32548728 G T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548728 32548728 Chr6(GRCh37):g.32548728G>T 653-95 653-95 NM_021983.4:c.653-95C>A p.? p.? 4 3 -95 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 rs9269769 no no 0 G 0.000000 0 transversion C A C>A 0.000 -1.489 245 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . rs9269769 rs9269769 rs9269769 rs9269769 1 1538 10 1/0 0,255,255 +rs9269771 6 32548734 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548734 32548734 Chr6(GRCh37):g.32548734T>C 653-101 653-101 NM_001243965.1:c.653-101A>G p.? p.? 4 3 142857 -101 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 Cryptic Acceptor Strongly Activated 32548728 0.006218 3.87998 0.005509 78.2028 rs9269771 yes no Frequency/1000G 2 C 0.000000 0 0.766374 0.842700 0.691200 0.717300 0.778300 0.781000 transition A G A>G 0.000 -0.602 255 PASS . . . . . 0.84 0.77 0.78 0.72 0.78 0.69 . . . . . 0.5769231 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.2336 . . . 0.18 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269771 0.554 0.522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.55 rs9269771 rs9269771 rs9269771 rs9269771 1 1538 10 1/0 0,255,255 +rs9269771 6 32548734 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548734 32548734 Chr6(GRCh37):g.32548734T>C 653-101 653-101 NM_022555.3:c.653-101A>G p.? p.? 4 3 612735 -101 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 Cryptic Acceptor Strongly Activated 32548728 0.006218 3.87998 0.005509 78.2028 rs9269771 yes no Frequency/1000G 2 C 0.000000 0 0.766374 0.842700 0.691200 0.717300 0.778300 0.781000 transition A G A>G 0.000 -0.602 255 PASS . . . . . 0.84 0.77 0.78 0.72 0.78 0.69 . . . . . 0.5769231 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.2336 . . . 0.18 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269771 0.554 0.522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.55 rs9269771 rs9269771 rs9269771 rs9269771 1 1538 10 1/0 0,255,255 +rs9269771 6 32548734 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548734 32548734 Chr6(GRCh37):g.32548734T>C 653-101 653-101 NM_021983.4:c.653-101A>G p.? p.? 4 3 -101 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 Cryptic Acceptor Strongly Activated 32548728 0.006218 3.87998 0.005509 78.2028 rs9269771 yes no Frequency/1000G 2 C 0.000000 0 0.766374 0.842700 0.691200 0.717300 0.778300 0.781000 transition A G A>G 0.000 -0.602 255 PASS . . . . . 0.84 0.77 0.78 0.72 0.78 0.69 . . . . . 0.5769231 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.0995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.2336 . . . 0.18 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9269771 0.554 0.522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.55 rs9269771 rs9269771 rs9269771 rs9269771 1 1538 10 1/0 0,255,255 +rs9269772 6 32548763 A T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32548763 32548763 Chr6(GRCh37):g.32548763A>T 653-130 653-130 NM_001243965.1:c.653-130T>A p.? p.? 4 3 142857 -130 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 New Acceptor Site 32548761 7.99812 0.977443 95.0825 rs9269772 yes no Frequency/1000G 2 0.000000 0 transversion T A T>A 0.000 -0.924 102 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.3463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.19 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.152 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . 0.15 rs9269772 rs9269772 rs9269772 rs9269772 1 1538 10 1/0 0,255,255 +rs9269772 6 32548763 A T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32548763 32548763 Chr6(GRCh37):g.32548763A>T 653-130 653-130 NM_022555.3:c.653-130T>A p.? p.? 4 3 612735 -130 3' 87.9601 7.89475 0.823374 8.29405 87.9601 7.89475 0.823374 8.29405 0 New Acceptor Site 32548761 7.99812 0.977443 95.0825 rs9269772 yes no Frequency/1000G 2 0.000000 0 transversion T A T>A 0.000 -0.924 102 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.3463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.19 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.152 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . 0.15 rs9269772 rs9269772 rs9269772 rs9269772 1 1538 10 1/0 0,255,255 +rs9269772 6 32548763 A T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32548763 32548763 Chr6(GRCh37):g.32548763A>T 653-130 653-130 NM_021983.4:c.653-130T>A p.? p.? 4 3 -130 3' 87.9601 9.42023 0.92094 X.75 87.9601 9.42023 0.92094 X.75 0 New Acceptor Site 32548761 7.99812 0.977443 95.0825 rs9269772 yes no Frequency/1000G 2 0.000000 0 transversion T A T>A 0.000 -0.924 102 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.3463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.19 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.152 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . 0.15 rs9269772 rs9269772 rs9269772 rs9269772 1 1538 10 1/0 0,255,255 +rs9269793 6 32549236 T G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549236 32549236 Chr6(GRCh37):g.32549236T>G 652+98 652+98 NM_001243965.1:c.652+98A>C p.? p.? 3 3 142857 98 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.73221 0 rs9269793 yes no Frequency/1000G 2 G 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transversion A C A>C 0.000 0.528 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5762712 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.1208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.33 0.4 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . II.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs9269793 rs9269793 rs9269793 rs9269793 1 1538 10 1/0 0,246,246 +rs9269793 6 32549236 T G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549236 32549236 Chr6(GRCh37):g.32549236T>G 652+98 652+98 NM_022555.3:c.652+98A>C p.? p.? 3 3 612735 98 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.19058 0 rs9269793 yes no Frequency/1000G 2 G 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transversion A C A>C 0.000 0.528 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5762712 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.1208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.33 0.4 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . II.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs9269793 rs9269793 rs9269793 rs9269793 1 1538 10 1/0 0,246,246 +rs9269793 6 32549236 T G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549236 32549236 Chr6(GRCh37):g.32549236T>G 652+98 652+98 NM_021983.4:c.652+98A>C p.? p.? 3 3 98 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.54741 0 rs9269793 yes no Frequency/1000G 2 G 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transversion A C A>C 0.000 0.528 255 PASS . . . . . 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5762712 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.1208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.33 0.4 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . II.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs9269793 rs9269793 rs9269793 rs9269793 1 1538 10 1/0 0,246,246 +rs866140198 6 32549237 A C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549237 32549237 Chr6(GRCh37):g.32549237A>C 652+97 652+97 NM_001243965.1:c.652+97T>G p.? p.? 3 3 142857 97 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.73221 0 rs866140198 no no 0 A 0.000000 0 transversion T G T>G 0.000 -0.279 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.0648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs35747774 rs35747774 . . 1 1538 10 1/0 0,216,255 +rs866140198 6 32549237 A C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549237 32549237 Chr6(GRCh37):g.32549237A>C 652+97 652+97 NM_022555.3:c.652+97T>G p.? p.? 3 3 612735 97 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.19058 0 rs866140198 no no 0 A 0.000000 0 transversion T G T>G 0.000 -0.279 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.0648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs35747774 rs35747774 . . 1 1538 10 1/0 0,216,255 +rs866140198 6 32549237 A C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549237 32549237 Chr6(GRCh37):g.32549237A>C 652+97 652+97 NM_021983.4:c.652+97T>G p.? p.? 3 3 97 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.54741 0 rs866140198 no no 0 A 0.000000 0 transversion T G T>G 0.000 -0.279 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.0648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs35747774 rs35747774 . . 1 1538 10 1/0 0,216,255 +rs41292729 6 32549246 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549246 32549246 Chr6(GRCh37):g.32549246T>C 652+88 652+88 NM_001243965.1:c.652+88A>G p.? p.? 3 3 142857 88 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.73221 0 rs41292729 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.117 211 PASS . . . . . . . . . . . . . . . . 0.18803419 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . -0.2902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.29 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.011 rs41292729 rs41292729 rs41292729 rs41292729 1 1538 10 1/0 0,227,255 +rs41292729 6 32549246 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549246 32549246 Chr6(GRCh37):g.32549246T>C 652+88 652+88 NM_022555.3:c.652+88A>G p.? p.? 3 3 612735 88 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.19058 0 rs41292729 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.117 211 PASS . . . . . . . . . . . . . . . . 0.18803419 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . -0.2902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.29 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.011 rs41292729 rs41292729 rs41292729 rs41292729 1 1538 10 1/0 0,227,255 +rs41292729 6 32549246 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549246 32549246 Chr6(GRCh37):g.32549246T>C 652+88 652+88 NM_021983.4:c.652+88A>G p.? p.? 3 3 88 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.54741 0 rs41292729 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.117 211 PASS . . . . . . . . . . . . . . . . 0.18803419 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . -0.2902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.29 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.011 rs41292729 rs41292729 rs41292729 rs41292729 1 1538 10 1/0 0,227,255 +rs9269794 6 32549249 G C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549249 32549249 Chr6(GRCh37):g.32549249G>C 652+85 652+85 NM_001243965.1:c.652+85C>G p.? p.? 3 3 142857 85 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.73221 0 rs9269794 yes no Frequency/HapMap 2 G 0.000000 0 transversion C G C>G 0.000 -0.037 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.1784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.33 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs9269794 rs9269794 rs9269794 rs9269794 1 1538 10 1/0 0,229,255 +rs9269794 6 32549249 G C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549249 32549249 Chr6(GRCh37):g.32549249G>C 652+85 652+85 NM_022555.3:c.652+85C>G p.? p.? 3 3 612735 85 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.19058 0 rs9269794 yes no Frequency/HapMap 2 G 0.000000 0 transversion C G C>G 0.000 -0.037 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.1784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.33 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs9269794 rs9269794 rs9269794 rs9269794 1 1538 10 1/0 0,229,255 +rs9269794 6 32549249 G C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549249 32549249 Chr6(GRCh37):g.32549249G>C 652+85 652+85 NM_021983.4:c.652+85C>G p.? p.? 3 3 85 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.54741 0 rs9269794 yes no Frequency/HapMap 2 G 0.000000 0 transversion C G C>G 0.000 -0.037 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.1784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.33 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs9269794 rs9269794 rs9269794 rs9269794 1 1538 10 1/0 0,229,255 +rs9269795 6 32549259 G A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549259 32549259 Chr6(GRCh37):g.32549259G>A 652+75 652+75 NM_001243965.1:c.652+75C>T p.? p.? 3 3 142857 75 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.64668 0 rs9269795 yes no Frequency/1000G 2 A 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transition C T C>T 0.000 -0.117 255 PASS 0.82 0.84 0.88 0.8 0.85 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5955882 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.34 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 52212 0.803558 64976 48559 0.809506 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.88 rs34832942 rs34832942 rs9269795 rs9269795 1 1538 10 1/0 0,243,244 +rs9269795 6 32549259 G A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549259 32549259 Chr6(GRCh37):g.32549259G>A 652+75 652+75 NM_022555.3:c.652+75C>T p.? p.? 3 3 612735 75 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.10505 0 rs9269795 yes no Frequency/1000G 2 A 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transition C T C>T 0.000 -0.117 255 PASS 0.82 0.84 0.88 0.8 0.85 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5955882 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.34 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 52212 0.803558 64976 48559 0.809506 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.88 rs34832942 rs34832942 rs9269795 rs9269795 1 1538 10 1/0 0,243,244 +rs9269795 6 32549259 G A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549259 32549259 Chr6(GRCh37):g.32549259G>A 652+75 652+75 NM_021983.4:c.652+75C>T p.? p.? 3 3 75 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.46188 0 rs9269795 yes no Frequency/1000G 2 A 0.000000 0 0.827476 0.858500 0.737200 0.788700 0.862800 0.900600 transition C T C>T 0.000 -0.117 255 PASS 0.82 0.84 0.88 0.8 0.85 0.86 0.83 0.9 0.79 0.86 0.74 . . . . . 0.5955882 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.0369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.1725 . . . 0.34 0.33 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . 52212 0.803558 64976 48559 0.809506 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.88 rs34832942 rs34832942 rs9269795 rs9269795 1 1538 10 1/0 0,243,244 +rs9269796 6 32549278 T G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549278 32549278 Chr6(GRCh37):g.32549278T>G 652+56 652+56 NM_001243965.1:c.652+56A>C p.? p.? 3 3 142857 56 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.93949 0 rs9269796 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.000 0.205 255 PASS 0.26 0.2 0.21 0.16 0.19 . . . . . . . . . . . 0.3432836 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.27 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs9269796 rs9269796 rs9269796 rs9269796 1 1538 10 1/0 0,234,255 +rs9269796 6 32549278 T G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549278 32549278 Chr6(GRCh37):g.32549278T>G 652+56 652+56 NM_022555.3:c.652+56A>C p.? p.? 3 3 612735 56 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.39786 0 rs9269796 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.000 0.205 255 PASS 0.26 0.2 0.21 0.16 0.19 . . . . . . . . . . . 0.3432836 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.27 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs9269796 rs9269796 rs9269796 rs9269796 1 1538 10 1/0 0,234,255 +rs9269796 6 32549278 T G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549278 32549278 Chr6(GRCh37):g.32549278T>G 652+56 652+56 NM_021983.4:c.652+56A>C p.? p.? 3 3 56 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.75469 0 rs9269796 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.000 0.205 255 PASS 0.26 0.2 0.21 0.16 0.19 . . . . . . . . . . . 0.3432836 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.27 0.36 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs9269796 rs9269796 rs9269796 rs9269796 1 1538 10 1/0 0,234,255 +rs111760370 6 32549279 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32549279 32549279 Chr6(GRCh37):g.32549279A>G 652+55 652+55 NM_001243965.1:c.652+55T>C p.? p.? 3 3 142857 55 5' 65.7076 2.46058 0.327264 1.73221 65.7076 2.46058 0.327264 1.90807 0 rs111760370 no no 0 A 0.000000 0 transition T C T>C 0.000 0.448 188 PASS . . . . . . . . . . . . . . . . 0.13076924 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.1042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs35263441 rs35263441 rs111760370 rs111760370 1 1538 10 1/0 0,218,255 +rs111760370 6 32549279 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32549279 32549279 Chr6(GRCh37):g.32549279A>G 652+55 652+55 NM_022555.3:c.652+55T>C p.? p.? 3 3 612735 55 5' 65.7076 2.46058 0.327264 2.19058 65.7076 2.46058 0.327264 2.36644 0 rs111760370 no no 0 A 0.000000 0 transition T C T>C 0.000 0.448 188 PASS . . . . . . . . . . . . . . . . 0.13076924 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.1042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs35263441 rs35263441 rs111760370 rs111760370 1 1538 10 1/0 0,218,255 +rs111760370 6 32549279 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32549279 32549279 Chr6(GRCh37):g.32549279A>G 652+55 652+55 NM_021983.4:c.652+55T>C p.? p.? 3 3 55 5' 65.7076 2.46058 0.312459 1.54741 65.7076 2.46058 0.312459 1.72327 0 rs111760370 no no 0 A 0.000000 0 transition T C T>C 0.000 0.448 188 PASS . . . . . . . . . . . . . . . . 0.13076924 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.1042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.25 0.38 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs35263441 rs35263441 rs111760370 rs111760370 1 1538 10 1/0 0,218,255 +rs767449242 6 32551873 C G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32551873 32551873 Chr6(GRCh37):g.32551873C>G 370+13 370+13 NM_001243965.1:c.370+13G>C p.? p.? 2 2 142857 13 5' 86.8044 8.70331 0.987114 9.93106 86.8044 8.70331 0.987114 X.96 0 rs767449242 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1667 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34824555 rs34824555 . . 1 1538 10 1/0 0,237,255 +rs767449242 6 32551873 C G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32551873 32551873 Chr6(GRCh37):g.32551873C>G 370+13 370+13 NM_022555.3:c.370+13G>C p.? p.? 2 2 612735 13 5' 86.8044 8.70331 0.987114 9.64053 86.8044 8.70331 0.987114 9.96902 0 rs767449242 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1667 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34824555 rs34824555 . . 1 1538 10 1/0 0,237,255 +rs767449242 6 32551873 C G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32551873 32551873 Chr6(GRCh37):g.32551873C>G 370+13 370+13 NM_021983.4:c.370+13G>C p.? p.? 2 2 13 5' 86.8044 8.70331 0.987114 9.05555 86.8044 8.70331 0.987114 9.38404 0 rs767449242 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.1667 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34824555 rs34824555 . . 1 1538 10 1/0 0,237,255 +rs9269940 6 32551879 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32551879 32551879 Chr6(GRCh37):g.32551879T>C 370+7 370+7 NM_001243965.1:c.370+7A>G p.? p.? 2 2 142857 7 5' 86.8044 8.70331 0.987114 9.93106 86.8044 8.70331 0.973273 X.92 -0.00467389 rs9269940 yes no Frequency/1000G 2 T 0.000000 0 0.491813 0.566600 0.370100 0.418700 0.544700 0.550400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45984 2714 4518 1310 3096 9036 20110 4102 1098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 114 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . 0.57 0.49 0.55 0.42 0.54 0.37 . . . . . 0.43650794 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.058 . @ . . . . . 2 0.021 . . 126.0 . . . . . . . . . . -0.5101 0.102 -0.510 n . . . . . 3.311e-04 . . . 0 0.0003 0 0 0 0.0007 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . intronic ncRNA_intronic intronic . . 0.053 0.4918 . . . 0.28 0.43 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.239 . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.025 . . . . . . . . 1.0E-255 0.000 0.063 . 0.074 0.002 . 0.150 . 0.031 . -0.915 . rs9269940 rs9269940 rs9269940 rs9269940 1 1538 10 1/0 0,245,255 +rs9269940 6 32551879 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32551879 32551879 Chr6(GRCh37):g.32551879T>C 370+7 370+7 NM_022555.3:c.370+7A>G p.? p.? 2 2 612735 7 5' 86.8044 8.70331 0.987114 9.64053 86.8044 8.70331 0.973273 X.87 -0.00467389 rs9269940 yes no Frequency/1000G 2 T 0.000000 0 0.491813 0.566600 0.370100 0.418700 0.544700 0.550400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45984 2714 4518 1310 3096 9036 20110 4102 1098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 114 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . 0.57 0.49 0.55 0.42 0.54 0.37 . . . . . 0.43650794 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.058 . @ . . . . . 2 0.021 . . 126.0 . . . . . . . . . . -0.5101 0.102 -0.510 n . . . . . 3.311e-04 . . . 0 0.0003 0 0 0 0.0007 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . intronic ncRNA_intronic intronic . . 0.053 0.4918 . . . 0.28 0.43 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.239 . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.025 . . . . . . . . 1.0E-255 0.000 0.063 . 0.074 0.002 . 0.150 . 0.031 . -0.915 . rs9269940 rs9269940 rs9269940 rs9269940 1 1538 10 1/0 0,245,255 +rs9269940 6 32551879 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32551879 32551879 Chr6(GRCh37):g.32551879T>C 370+7 370+7 NM_021983.4:c.370+7A>G p.? p.? 2 2 7 5' 86.8044 8.70331 0.987114 9.05555 86.8044 8.70331 0.973273 9.83368 -0.00467389 rs9269940 yes no Frequency/1000G 2 T 0.000000 0 0.491813 0.566600 0.370100 0.418700 0.544700 0.550400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45984 2714 4518 1310 3096 9036 20110 4102 1098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 114 Exomes transition A G A>G 0.000 -1.409 255 PASS . . . . . 0.57 0.49 0.55 0.42 0.54 0.37 . . . . . 0.43650794 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.058 . @ . . . . . 2 0.021 . . 126.0 . . . . . . . . . . -0.5101 0.102 -0.510 n . . . . . 3.311e-04 . . . 0 0.0003 0 0 0 0.0007 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . intronic ncRNA_intronic intronic . . 0.053 0.4918 . . . 0.28 0.43 182 ENSG00000196126 HLA-DRB6 HLA-DRB1 . . . 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.239 . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.025 . . . . . . . . 1.0E-255 0.000 0.063 . 0.074 0.002 . 0.150 . 0.031 . -0.915 . rs9269940 rs9269940 rs9269940 rs9269940 1 1538 10 1/0 0,245,255 +rs16822805 (chr6:32551949 C/G) 6 32551949 C G Transcript NM_001243965.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB1 +rs16822805 (chr6:32551949 C/G) 6 32551949 C G Transcript NM_022555.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB3 +rs16822805 6 32551949 C G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution missense exon GRCh37 32551949 32551949 Chr6(GRCh37):g.32551949C>G 307 307 NM_021983.4:c.307G>C p.Glu103Gln p.Glu103Gln 2 -64 5' 86.8044 8.70331 0.987114 9.05555 86.8044 8.70331 0.987114 8.73316 0 Cryptic Donor Strongly Activated 32551947 0.756246 0.021796 64.5722 3.09325 0.068961 67.6269 MHC class II, beta chain, N-terminal rs16822805 yes no Frequency 1 C 0.000000 0 0.001228 0.013677 0.000454 0.000000 0.000278 0.000457 0.000241 0.000637 0.000000 0.013677 171 129 8 0 2 8 16 8 0 139250 9432 17616 5498 7194 17494 66276 12562 3178 0.000115 0.001484 0.000000 0.000000 0.000000 0.000114 0.000000 0.000000 0.000000 8 7 0 0 0 1 0 0 0 150 110 8 0 2 6 16 8 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 0.205 E Glu GAG 0.583 Q Gln CAG 0.744 103 2 2 3 0.92 0.89 12.III 10.V 83 85 29 184 PASS . . . . . . . . . . . ENSG00000196126:ENST00000360004:exon2:c.G307C:p.A103P HLA-DRB1:uc003obp.4:exon2:c.G307C:p.A103P HLA-DRB1:NM_002124:exon2:c.G307C:p.A103P . . 0.12107623 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.299 . @ . . . . . 1 0.248 . . 223.0 . . . . . . . . . . -1.5077 -1.571 -1.508 c . . . . . . . . . 0.0248 0.0046 0.0024 0.0024 0.0044 0.0023 0 0.0016 0.0266 0.0038 0.0025 0.0018 0.0027 0.0019 0 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.003 . . exonic exonic exonic . . 0.168 @ . . . 0.3 0.45 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 . . . 1.000 0.416 . . . . . . . Likely_benign . 0 . 0.020 . . . . . . . . . 37 . 0.000 . . 0.233 . . . 0.482 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.480 . . 0 0 0 0 0 0 . 0.290 . . 0.347 . . . . . . 0 0.408 . . . . . 0.071 . 0.584 . LowAF 0.05 . . . . . . . . . . . . . III.95 . ENST00000360004 III.52 0.631 . 0.070000 P01911 . . . . . 0.051 . . . 0.0072 0.0005 0.0002 0 0.0002 0 0.0002 0 0.0005 0.0255 0.0081 0.0105 0 0.0012 0.0047 0.0008 0 . . 0.401 . 0.007 0.007000 . . 0.070000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.027 . 0.002 . 0.005 0.007 -0.054 . . . rs16822805 rs16822805 1 1538 10 1/0 0,193,255 +rs17878857 (chr6:32551951 G/C) 6 32551951 G C Transcript NM_001243965.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB1 +rs17878857 (chr6:32551951 G/C) 6 32551951 G C Transcript NM_022555.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB3 +rs17878857 6 32551951 G C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution missense exon GRCh37 32551951 32551951 Chr6(GRCh37):g.32551951G>C 305 305 NM_021983.4:c.305C>G p.Ala102Gly p.Ala102Gly 2 -66 5' 86.8044 8.70331 0.987114 9.05555 86.8044 8.70331 0.987114 9.03003 0 MHC class II, beta chain, N-terminal rs17878857 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.173 1.416 A Ala GCC 0.403 G Gly GGC 0.342 102 0 0 0 0 0.74 8.I 9 31 3 60 184 PASS . . . . . . . . . . . ENSG00000196126:ENST00000360004:exon2:c.C305G:p.A102G HLA-DRB1:uc003obp.4:exon2:c.C305G:p.A102G HLA-DRB1:NM_002124:exon2:c.C305G:p.A102G . . 0.122171946 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.326 . . 221.0 . . . . . . . . . . -0.8018 -0.854 -0.802 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.304 @ . . . 0.29 0.36 182 ENSG00000196126 HLA-DRB1 HLA-DRB1 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.020 . . . . T 0.059 0.003 . . 37 . 0.001 . . 0.414 . . . . 0.192 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.611 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.279 . . . . . 0.316 . 0.681 . LowAF 0.1 . . . . . . . . . . . . . VIII.39 . ENST00000360004 III.52 II.64 . 0.100000 P01911 . . . . . 0.132 . . II.64 . . . . . . . . . . . . . . . . . . . 0.401 . 0.822 0.822000 . . 0.100000 . . 9.999999999999999E-185 0.000 0.063 . 0.090 0.027 . 0.173 . 0.114 0.822 0.897 . rs17878857 rs17878857 rs1059596 rs1059596 1 1538 10 1/0 0,194,255 +rs41285655 6 32552171 C T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552171 32552171 Chr6(GRCh37):g.32552171C>T 101-16 101-16 NM_001243965.1:c.101-16G>A p.? p.? 2 1 142857 -16 3' 80.37 8.57323 0.457948 6.24344 80.37 8.51373 0.519547 6.49405 0.0425235 rs41285655 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.000 -4.476 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.6946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.36 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs41285655 rs41285655 rs41285655 rs41285655 1 1538 10 1/0 0,216,255 +rs41285655 6 32552171 C T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552171 32552171 Chr6(GRCh37):g.32552171C>T 101-16 101-16 NM_022555.3:c.101-16G>A p.? p.? 2 1 612735 -16 3' 80.37 8.57323 0.248309 6.00077 80.37 8.51373 0.334741 6.25138 0.113714 rs41285655 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.000 -4.476 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.6946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.36 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs41285655 rs41285655 rs41285655 rs41285655 1 1538 10 1/0 0,216,255 +rs41285655 6 32552171 C T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552171 32552171 Chr6(GRCh37):g.32552171C>T 101-16 101-16 NM_021983.4:c.101-16G>A p.? p.? 2 1 -16 3' 80.37 8.57323 0.623412 5.96737 80.37 8.51373 0.703846 6.21799 0.0406939 rs41285655 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.000 -4.476 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . -0.6946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.36 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs41285655 rs41285655 rs41285655 rs41285655 1 1538 10 1/0 0,216,255 +rs41285659 6 32552173 A C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552173 32552173 Chr6(GRCh37):g.32552173A>C 101-18 101-18 NM_001243965.1:c.101-18T>G p.? p.? 2 1 142857 -18 3' 80.37 8.57323 0.457948 6.24344 80.37 7.03828 0.288928 3.08728 -0.182707 32552174 -6.94118 rs41285659 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -0.198 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . 0.1588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs41285659 rs41285659 rs41285659 rs41285659 1 1538 10 1/0 0,222,255 +rs41285659 6 32552173 A C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552173 32552173 Chr6(GRCh37):g.32552173A>C 101-18 101-18 NM_022555.3:c.101-18T>G p.? p.? 2 1 612735 -18 3' 80.37 8.57323 0.248309 6.00077 80.37 7.03828 0.151922 2.84461 -0.189071 32552174 -6.94118 rs41285659 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -0.198 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . 0.1588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs41285659 rs41285659 rs41285659 rs41285659 1 1538 10 1/0 0,222,255 +rs41285659 6 32552173 A C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552173 32552173 Chr6(GRCh37):g.32552173A>C 101-18 101-18 NM_021983.4:c.101-18T>G p.? p.? 2 1 -18 3' 80.37 8.57323 0.623412 5.96737 80.37 7.03828 0.49501 2.81121 -0.128336 32552174 -6.94118 rs41285659 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -0.198 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . 0.1588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs41285659 rs41285659 rs41285659 rs41285659 1 1538 10 1/0 0,222,255 +rs9269964 6 32552212 C T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552212 32552212 Chr6(GRCh37):g.32552212C>T 101-57 101-57 NM_001243965.1:c.101-57G>A p.? p.? 2 1 142857 -57 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 6.36197 0 rs9269964 yes no Frequency/1000G 2 C 0.000000 0 0.378794 0.486400 0.291400 0.366100 0.355900 0.348700 transition G A G>A 0.000 -1.409 192 PASS 0.35 0.28 0.27 0.28 0.23 0.49 0.38 0.35 0.37 0.36 0.29 . . . . . 0.14 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . 0.0475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3788 . . . 0.28 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.054 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.35 rs9269964 rs9269964 rs9269964 rs9269964 1 1538 10 1/0 0,230,255 +rs9269964 6 32552212 C T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552212 32552212 Chr6(GRCh37):g.32552212C>T 101-57 101-57 NM_022555.3:c.101-57G>A p.? p.? 2 1 612735 -57 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 6.1193 0 rs9269964 yes no Frequency/1000G 2 C 0.000000 0 0.378794 0.486400 0.291400 0.366100 0.355900 0.348700 transition G A G>A 0.000 -1.409 192 PASS 0.35 0.28 0.27 0.28 0.23 0.49 0.38 0.35 0.37 0.36 0.29 . . . . . 0.14 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . 0.0475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3788 . . . 0.28 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.054 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.35 rs9269964 rs9269964 rs9269964 rs9269964 1 1538 10 1/0 0,230,255 +rs9269964 6 32552212 C T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552212 32552212 Chr6(GRCh37):g.32552212C>T 101-57 101-57 NM_021983.4:c.101-57G>A p.? p.? 2 1 -57 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 6.0859 0 rs9269964 yes no Frequency/1000G 2 C 0.000000 0 0.378794 0.486400 0.291400 0.366100 0.355900 0.348700 transition G A G>A 0.000 -1.409 192 PASS 0.35 0.28 0.27 0.28 0.23 0.49 0.38 0.35 0.37 0.36 0.29 . . . . . 0.14 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . 0.0475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3788 . . . 0.28 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.054 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.35 rs9269964 rs9269964 rs9269964 rs9269964 1 1538 10 1/0 0,230,255 +rs9269965 6 32552219 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552219 32552219 Chr6(GRCh37):g.32552219A>G 101-64 101-64 NM_001243965.1:c.101-64T>C p.? p.? 2 1 142857 -64 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 5.94337 0 rs9269965 yes no Frequency/1000G 2 A 0.000000 0 0.335064 0.487100 0.260700 0.192500 0.343900 0.344400 transition T C T>C 0.008 -2.216 247 PASS 0.36 0.25 0.26 0.17 0.24 0.49 0.34 0.34 0.19 0.34 0.26 . . . . . 0.2967033 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.6680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3351 . . . 0.26 0.37 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.076 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . 0.36 rs9269965 rs9269965 rs9269965 rs9269965 1 1538 10 1/0 0,250,255 +rs9269965 6 32552219 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552219 32552219 Chr6(GRCh37):g.32552219A>G 101-64 101-64 NM_022555.3:c.101-64T>C p.? p.? 2 1 612735 -64 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 V.07 0 rs9269965 yes no Frequency/1000G 2 A 0.000000 0 0.335064 0.487100 0.260700 0.192500 0.343900 0.344400 transition T C T>C 0.008 -2.216 247 PASS 0.36 0.25 0.26 0.17 0.24 0.49 0.34 0.34 0.19 0.34 0.26 . . . . . 0.2967033 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.6680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3351 . . . 0.26 0.37 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.076 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . 0.36 rs9269965 rs9269965 rs9269965 rs9269965 1 1538 10 1/0 0,250,255 +rs9269965 6 32552219 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552219 32552219 Chr6(GRCh37):g.32552219A>G 101-64 101-64 NM_021983.4:c.101-64T>C p.? p.? 2 1 -64 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 V.73 0 rs9269965 yes no Frequency/1000G 2 A 0.000000 0 0.335064 0.487100 0.260700 0.192500 0.343900 0.344400 transition T C T>C 0.008 -2.216 247 PASS 0.36 0.25 0.26 0.17 0.24 0.49 0.34 0.34 0.19 0.34 0.26 . . . . . 0.2967033 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . -0.6680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3351 . . . 0.26 0.37 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.076 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . 0.36 rs9269965 rs9269965 rs9269965 rs9269965 1 1538 10 1/0 0,250,255 +rs41285663 6 32552231 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552231 32552231 Chr6(GRCh37):g.32552231T>C 101-76 101-76 NM_001243965.1:c.101-76A>G p.? p.? 2 1 142857 -76 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 6.56456 0 rs41285663 yes no Frequency/1000G 2 T 0.000000 0 0.118610 0.110400 0.091000 0.153800 0.107400 0.138300 transition A G A>G 0.000 -0.521 186 PASS 0.15 0.14 0.14 0.15 0.11 0.11 0.12 0.14 0.15 0.11 0.091 . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1186 . . . 0.33 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.15 rs41285663 rs41285663 rs41285663 rs41285663 1 1538 10 1/0 0,239,255 +rs41285663 6 32552231 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552231 32552231 Chr6(GRCh37):g.32552231T>C 101-76 101-76 NM_022555.3:c.101-76A>G p.? p.? 2 1 612735 -76 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 6.32189 0 rs41285663 yes no Frequency/1000G 2 T 0.000000 0 0.118610 0.110400 0.091000 0.153800 0.107400 0.138300 transition A G A>G 0.000 -0.521 186 PASS 0.15 0.14 0.14 0.15 0.11 0.11 0.12 0.14 0.15 0.11 0.091 . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1186 . . . 0.33 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.15 rs41285663 rs41285663 rs41285663 rs41285663 1 1538 10 1/0 0,239,255 +rs41285663 6 32552231 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552231 32552231 Chr6(GRCh37):g.32552231T>C 101-76 101-76 NM_021983.4:c.101-76A>G p.? p.? 2 1 -76 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 VI.85 0 rs41285663 yes no Frequency/1000G 2 T 0.000000 0 0.118610 0.110400 0.091000 0.153800 0.107400 0.138300 transition A G A>G 0.000 -0.521 186 PASS 0.15 0.14 0.14 0.15 0.11 0.11 0.12 0.14 0.15 0.11 0.091 . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1186 . . . 0.33 0.38 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.15 rs41285663 rs41285663 rs41285663 rs41285663 1 1538 10 1/0 0,239,255 +rs9269966 6 32552237 A G - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552237 32552237 Chr6(GRCh37):g.32552237A>G 101-82 101-82 NM_001243965.1:c.101-82T>C p.? p.? 2 1 142857 -82 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 6.19589 0 32552235 -24.7594 rs9269966 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -3.426 254 PASS 0.77 0.78 0.83 0.75 0.8 . . . . . . . . . . . 0.31944445 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.43 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.130 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.83 rs9269966 rs9269966 rs9269966 rs9269966 1 1538 10 1/0 0,255,255 +rs9269966 6 32552237 A G - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552237 32552237 Chr6(GRCh37):g.32552237A>G 101-82 101-82 NM_022555.3:c.101-82T>C p.? p.? 2 1 612735 -82 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 5.95322 0 32552235 -24.7594 rs9269966 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -3.426 254 PASS 0.77 0.78 0.83 0.75 0.8 . . . . . . . . . . . 0.31944445 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.43 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.130 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.83 rs9269966 rs9269966 rs9269966 rs9269966 1 1538 10 1/0 0,255,255 +rs9269966 6 32552237 A G - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552237 32552237 Chr6(GRCh37):g.32552237A>G 101-82 101-82 NM_021983.4:c.101-82T>C p.? p.? 2 1 -82 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 5.91983 0 32552235 -24.7594 rs9269966 yes no Frequency/1000G 2 A 0.000000 0 transition T C T>C 0.000 -3.426 254 PASS 0.77 0.78 0.83 0.75 0.8 . . . . . . . . . . . 0.31944445 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.3510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.43 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.130 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.83 rs9269966 rs9269966 rs9269966 rs9269966 1 1538 10 1/0 0,255,255 +rs28724111 6 32552240 G C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution intron GRCh37 32552240 32552240 Chr6(GRCh37):g.32552240G>C 101-85 101-85 NM_001243965.1:c.101-85C>G p.? p.? 2 1 142857 -85 3' 80.37 8.57323 0.457948 6.24344 80.37 8.57323 0.457948 6.24344 0 rs28724111 yes no Frequency/1000G 2 G 0.000000 0 transversion C G C>G 0.000 0.044 253 PASS . . . . . . . . . . . . . . . . 0.3188406 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.1812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.087 rs28724111 rs28724111 rs28724111 rs28724111 1 1538 10 1/0 0,255,255 +rs28724111 6 32552240 G C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution intron GRCh37 32552240 32552240 Chr6(GRCh37):g.32552240G>C 101-85 101-85 NM_022555.3:c.101-85C>G p.? p.? 2 1 612735 -85 3' 80.37 8.57323 0.248309 6.00077 80.37 8.57323 0.248309 6.00077 0 rs28724111 yes no Frequency/1000G 2 G 0.000000 0 transversion C G C>G 0.000 0.044 253 PASS . . . . . . . . . . . . . . . . 0.3188406 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.1812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.087 rs28724111 rs28724111 rs28724111 rs28724111 1 1538 10 1/0 0,255,255 +rs28724111 6 32552240 G C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution intron GRCh37 32552240 32552240 Chr6(GRCh37):g.32552240G>C 101-85 101-85 NM_021983.4:c.101-85C>G p.? p.? 2 1 -85 3' 80.37 8.57323 0.623412 5.96737 80.37 8.57323 0.623412 5.96737 0 rs28724111 yes no Frequency/1000G 2 G 0.000000 0 transversion C G C>G 0.000 0.044 253 PASS . . . . . . . . . . . . . . . . 0.3188406 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.1812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.35 182 ENSG00000196126 . HLA-DRB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.087 rs28724111 rs28724111 rs28724111 rs28724111 1 1538 10 1/0 0,255,255 +rs868766399 6 32557572 G T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557572 32557572 Chr6(GRCh37):g.32557572G>T -53 -53 NM_001243965.1:c.-53C>A p.? p.? 1 142857 -153 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 transversion C A C>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11851852 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 0.8194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-53C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +rs868766399 6 32557572 G T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557572 32557572 Chr6(GRCh37):g.32557572G>T -53 -53 NM_022555.3:c.-53C>A p.? p.? 1 612735 -153 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 transversion C A C>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11851852 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 0.8194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-53C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +rs868766399 6 32557572 G T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution 5'UTR GRCh37 32557572 32557572 Chr6(GRCh37):g.32557572G>T -53 -53 NM_021983.4:c.-53C>A p.? p.? 1 -153 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 transversion C A C>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11851852 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 0.8194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-53C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +. 6 32557584 A AC - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 insertion 5'UTR GRCh37 32557584 32557585 Chr6(GRCh37):g.32557584_32557585insC -66 -65 NM_001243965.1:c.-66_-65insG p.? p.? 1 142857 -165 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 rs769108864 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.11811024 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66_-65insG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs769108864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,93 +. 6 32557584 A AC - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 insertion upstream GRCh37 32557584 32557585 Chr6(GRCh37):g.32557584_32557585insC -66 -65 NM_022555.3:c.-66_-65insG p.? p.? 1 612735 -165 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 rs769108864 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.11811024 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66_-65insG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs769108864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,93 +. 6 32557584 A AC - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 delins 5'UTR GRCh37 32557584 32557584 Chr6(GRCh37):g.32557584delinsAC -65 -65 NM_021983.4:c.-65delinsGT p.? p.? 1 -165 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 GT C 255 Pass . . . . . . . . . . . . . . . . 0.11811024 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66_-65insG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs769108864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,93 +rs17211091 6 32557585 A C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557585 32557585 Chr6(GRCh37):g.32557585A>C -66 -66 NM_001243965.1:c.-66T>G p.? p.? 1 142857 -166 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 rs17211091 yes no Frequency/1000G 2 A 0.000000 0 0.393171 0.391100 0.376300 0.360100 0.416500 0.435200 transversion T G T>G 0.000 0.367 234 PASS . . . . . 0.39 0.39 0.44 0.36 0.42 0.38 . . . . . 0.25396827 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . 0.9028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.3932 . . . 0.52 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66T>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17211091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . rs28366222 rs28366222 rs17211091 rs17211091 1 1538 10 1/0 0,230,255 +rs17211091 6 32557585 A C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557585 32557585 Chr6(GRCh37):g.32557585A>C -66 -66 NM_022555.3:c.-66T>G p.? p.? 1 612735 -166 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 rs17211091 yes no Frequency/1000G 2 A 0.000000 0 0.393171 0.391100 0.376300 0.360100 0.416500 0.435200 transversion T G T>G 0.000 0.367 234 PASS . . . . . 0.39 0.39 0.44 0.36 0.42 0.38 . . . . . 0.25396827 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . 0.9028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.3932 . . . 0.52 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-66T>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17211091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . rs28366222 rs28366222 rs17211091 rs17211091 1 1538 10 1/0 0,230,255 +rs17211091 (chr6:32557585 A/C) 6 32557585 A C Transcript NM_021983.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) HLA-DRB4 +. 6 32557590 T A - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557590 32557590 Chr6(GRCh37):g.32557590T>A -71 -71 NM_001243965.1:c.-71A>T p.? p.? 1 142857 -171 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 Cryptic Acceptor Strongly Activated 32557578 0.02037 1.36504 0.132843 60.4838 transversion A T A>T 0.000 0.367 177 PASS . . . . . . . . . . . . . . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 1.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-71A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 6 32557590 T A - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557590 32557590 Chr6(GRCh37):g.32557590T>A -71 -71 NM_022555.3:c.-71A>T p.? p.? 1 612735 -171 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 Cryptic Acceptor Strongly Activated 32557578 0.02037 1.36504 0.132843 60.4838 transversion A T A>T 0.000 0.367 177 PASS . . . . . . . . . . . . . . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 1.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-71A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 6 32557590 T A - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution upstream GRCh37 32557590 32557590 Chr6(GRCh37):g.32557590T>A -71 -71 NM_021983.4:c.-71A>T p.? p.? 1 -171 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 New Donor Site 32557592 0.425381 0.016428 68.9725 transversion A T A>T 0.000 0.367 177 PASS . . . . . . . . . . . . . . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 1.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-71A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 6 32557595 C T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557595 32557595 Chr6(GRCh37):g.32557595C>T -76 -76 NM_001243965.1:c.-76G>A p.? p.? 1 142857 -176 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 Cryptic Donor Strongly Activated 32557599 2.76443 0.062038 72.6353 7.79763 0.671838 82.716 transition G A G>A 0.000 0.044 186 PASS . . . . . . . . . . . . . . . . 0.12711865 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.9161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-76G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +. 6 32557595 C T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557595 32557595 Chr6(GRCh37):g.32557595C>T -76 -76 NM_022555.3:c.-76G>A p.? p.? 1 612735 -176 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 Cryptic Donor Strongly Activated 32557599 2.76443 0.062038 72.6353 7.79763 0.671838 82.716 transition G A G>A 0.000 0.044 186 PASS . . . . . . . . . . . . . . . . 0.12711865 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.9161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-76G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +. 6 32557595 C T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution upstream GRCh37 32557595 32557595 Chr6(GRCh37):g.32557595C>T -76 -76 NM_021983.4:c.-76G>A p.? p.? 1 -176 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 Cryptic Donor Strongly Activated 32557599 2.76443 0.062038 72.6353 7.79763 0.671838 82.716 transition G A G>A 0.000 0.044 186 PASS . . . . . . . . . . . . . . . . 0.12711865 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . 0.9161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-76G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +. 6 32557608 T C - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution 5'UTR GRCh37 32557608 32557608 Chr6(GRCh37):g.32557608T>C -89 -89 NM_001243965.1:c.-89A>G p.? p.? 1 142857 -189 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 transition A G A>G 0.000 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.104761906 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.3004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-89A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 6 32557608 T C - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557608 32557608 Chr6(GRCh37):g.32557608T>C -89 -89 NM_022555.3:c.-89A>G p.? p.? 1 612735 -189 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 transition A G A>G 0.000 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.104761906 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.3004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-89A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 6 32557608 T C - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution upstream GRCh37 32557608 32557608 Chr6(GRCh37):g.32557608T>C -89 -89 NM_021983.4:c.-89A>G p.? p.? 1 -189 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 transition A G A>G 0.000 -1.167 176 PASS . . . . . . . . . . . . . . . . 0.104761906 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.3004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-89A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs9270314 6 32557617 G T - HLA-DRB1 4948 Major histocompatibility complex, class II, DR beta 1 NM_001243965.1 -1 1217 801 NP_001230894.1 P01912 substitution upstream GRCh37 32557617 32557617 Chr6(GRCh37):g.32557617G>T -98 -98 NM_001243965.1:c.-98C>A p.? p.? 1 142857 -198 5' 83.6343 X.43 0.996187 6.78113 83.6343 X.43 0.996187 6.78113 0 rs9270314 yes no Frequency/1000G 2 G 0.000000 0 0.437500 0.488700 0.399800 0.435500 0.412500 0.432300 transversion C A C>A 0.000 -0.521 255 PASS . . . . . 0.49 0.44 0.43 0.44 0.41 0.4 . . . . . 0.35714287 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . 0.7788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.4375 . . . 0.49 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-98C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9270314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9270314 rs9270314 rs9270314 rs9270314 1 1538 10 1/0 0,245,255 +rs9270314 6 32557617 G T - HLA-DRB3 4951 Major histocompatibility complex, class II, DR beta 3 NM_022555.3 -1 1160 801 NP_072049.2 P79483 substitution upstream GRCh37 32557617 32557617 Chr6(GRCh37):g.32557617G>T -98 -98 NM_022555.3:c.-98C>A p.? p.? 1 612735 -198 5' 83.6343 X.43 0.994842 7.81992 83.6343 X.43 0.994842 7.81992 0 rs9270314 yes no Frequency/1000G 2 G 0.000000 0 0.437500 0.488700 0.399800 0.435500 0.412500 0.432300 transversion C A C>A 0.000 -0.521 255 PASS . . . . . 0.49 0.44 0.43 0.44 0.41 0.4 . . . . . 0.35714287 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . 0.7788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.4375 . . . 0.49 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-98C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9270314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9270314 rs9270314 rs9270314 rs9270314 1 1538 10 1/0 0,245,255 +rs9270314 6 32557617 G T - HLA-DRB4 4952 Major histocompatibility complex, class II, DR beta 4 NM_021983.4 -1 1193 801 NP_068818.4 P13762 substitution upstream GRCh37 32557617 32557617 Chr6(GRCh37):g.32557617G>T -98 -98 NM_021983.4:c.-98C>A p.? p.? 1 -198 5' 86.3823 X.52 0.994196 7.55964 86.3823 X.52 0.994196 7.55964 0 rs9270314 yes no Frequency/1000G 2 G 0.000000 0 0.437500 0.488700 0.399800 0.435500 0.412500 0.432300 transversion C A C>A 0.000 -0.521 255 PASS . . . . . 0.49 0.44 0.43 0.44 0.41 0.4 . . . . . 0.35714287 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . 0.7788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.4375 . . . 0.49 0.43 182 ENSG00000196126 . HLA-DRB1 ENST00000360004:c.-98C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9270314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9270314 rs9270314 rs9270314 rs9270314 1 1538 10 1/0 0,245,255 +rs9272441 6 32605380 T G - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605380 32605380 Chr6(GRCh37):g.32605380T>G 82+63 82+63 NM_002122.3:c.82+63T>G p.? p.? 1 1 146880 63 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 III.14 0 rs9272441 yes no Frequency/1000G 2 0.000000 0 0.555112 0.512100 0.487700 0.541700 0.590500 0.700300 transversion T G T>G 0.000 -1.005 254 PASS 0.47 0.56 0.67 0.55 0.57 0.51 0.56 0.7 0.54 0.59 0.49 . . . . . 0.3243243 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.1295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4449 . . . 0.25 0.47 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . 27007 0.415646 64976 24957 0.416047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.293 0.290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.67 rs9272441 rs9272441 rs9272441 rs9272441 1 1538 10 1/0 0,255,255 +rs9272442 6 32605400 C T - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605400 32605400 Chr6(GRCh37):g.32605400C>T 82+83 82+83 NM_002122.3:c.82+83C>T p.? p.? 1 1 146880 83 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 rs9272442 yes no Frequency/1000G 2 0.000000 0 0.551518 0.504500 0.483600 0.541700 0.586500 0.700300 transition C T C>T 0.000 -3.184 255 PASS 0.46 0.56 0.67 0.55 0.57 0.5 0.55 0.7 0.54 0.59 0.48 . . . . . 0.33333334 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.3142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4485 . . . 0.25 0.5 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.293 0.283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.67 rs9272442 rs9272442 rs9272442 rs9272442 1 1538 10 1/0 0,255,255 +rs9272445 6 32605420 C T - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605420 32605420 Chr6(GRCh37):g.32605420C>T 82+103 82+103 NM_002122.3:c.82+103C>T p.? p.? 1 1 146880 103 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 rs9272445 yes no Frequency/1000G 2 0.000000 0 0.027955 0.033300 0.010200 0.014900 0.035800 0.050400 transition C T C>T 0.000 -1.247 255 PASS . . . . . 0.033 0.028 0.05 0.015 0.036 0.01 . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.0798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0280 . . . 0.21 0.51 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.098 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs9272445 rs9272445 rs9272445 rs9272445 1 1538 10 1/0 0,255,255 +rs9272446 6 32605423 T C - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605423 32605423 Chr6(GRCh37):g.32605423T>C 82+106 82+106 NM_002122.3:c.82+106T>C p.? p.? 1 1 146880 106 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 rs9272446 yes no Frequency/1000G 2 0.000000 0 0.246206 0.295000 0.180000 0.215300 0.247500 0.289600 transition T C T>C 0.000 -1.086 255 PASS 0.24 0.2 0.28 0.16 0.18 0.29 0.25 0.29 0.22 0.25 0.18 . . . . . 0.39285713 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.1344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2462 . . . 0.21 0.46 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . 3260 0.0501724 64976 3087 0.051462 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.141 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.28 rs9272446 rs9272446 rs9272446 rs9272446 1 1538 10 1/0 0,255,255 +rs7751376 6 32605437 C G - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605437 32605437 Chr6(GRCh37):g.32605437C>G 82+120 82+120 NM_002122.3:c.82+120C>G p.? p.? 1 1 146880 120 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 rs7751376 yes no Frequency/1000G 2 0.000000 0 0.542931 0.493200 0.478500 0.534700 0.572600 0.697400 transversion C G C>G 0.000 -0.279 255 PASS 0.46 0.55 0.67 0.55 0.56 0.49 0.54 0.7 0.53 0.57 0.48 . . . . . 0.33333334 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.2145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4571 . . . 0.19 0.45 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . 28994 0.446226 64976 26847 0.447554 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.152 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.67 rs7751376 rs7751376 rs7751376 rs7751376 1 1538 10 1/0 0,255,255 +rs9272448 6 32605439 A T - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32605439 32605439 Chr6(GRCh37):g.32605439A>T 82+122 82+122 NM_002122.3:c.82+122A>T p.? p.? 1 1 146880 122 5' 82.5488 8.73118 0.978467 3.40181 82.5488 8.73118 0.978467 3.40181 0 Cryptic Acceptor Strongly Activated 32605453 0.000392 64.5486 1.82915 0.001325 69.949 rs9272448 yes no Frequency/1000G 2 0.000000 0 0.244010 0.292700 0.174800 0.213300 0.248500 0.286700 transversion A T A>T 0.000 0.044 255 PASS 0.3 0.26 0.33 0.19 0.24 0.29 0.24 0.29 0.21 0.25 0.17 . . . . . 0.4090909 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.2419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2440 . . . 0.2 0.46 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . 5734 0.088248 64976 5337 0.0889708 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs9272448 rs9272448 rs9272448 rs9272448 1 1538 10 1/0 0,255,255 +. 6 32609368 A G - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32609368 32609368 Chr6(GRCh37):g.32609368A>G 331+33 331+33 NM_002122.3:c.331+33A>G p.? p.? 2 2 146880 33 5' 75.23 7.13539 0.864395 4.95315 75.23 7.13539 0.864395 5.08549 0 Cryptic Acceptor Strongly Activated 32609388 4.32362 0.255717 83.6345 4.94639 0.394962 83.6345 transition A G A>G 0.000 -0.602 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.0339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs36218696 rs36218696 . . 1 1538 10 1/0 0,242,255 +rs28383454 6 32609370 G T - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32609370 32609370 Chr6(GRCh37):g.32609370G>T 331+35 331+35 NM_002122.3:c.331+35G>T p.? p.? 2 2 146880 35 5' 75.23 7.13539 0.864395 4.95315 75.23 7.13539 0.864395 5.03887 0 Cryptic Acceptor Strongly Activated 32609388 4.32362 0.255717 83.6345 5.98736 0.294673 83.6345 rs28383454 yes no Frequency/1000G 2 0.000000 0 0.299321 0.248900 0.183000 0.286700 0.353900 0.498600 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 147032 10654 13548 5712 10308 21790 68928 12690 3402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 140 Exomes transversion G T G>T 0.000 -0.682 177 PASS . . . . . 0.25 0.3 0.5 0.29 0.35 0.18 . . . . . 0.10810811 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.1243 . . . . . . . . 4.128e-04 . . . 0 1.798e-05 0.0002 0 0 0 0 0 0 1.483e-05 0.0002 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.2993 . . . 0.2 0.34 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs9272816 6 32610621 C G - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32610621 32610621 Chr6(GRCh37):g.32610621C>G *20+60 *20+60 NM_002122.3:c.*20+60C>G p.? p.? 4 4 146880 60 5' 94.3644 X.71 0.976747 5.11242 94.3644 X.71 0.976747 5.62618 0 rs9272816 no no 0 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000104 0.000000 0.000000 0.000000 0.000000 0.000104 1 0 0 0 1 0 0 0 0 130460 8686 15502 5234 9650 18994 57214 12056 3124 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 140 Exomes transversion C G C>G 0.000 -0.279 145 PASS . . . . . . . . . . . . . . . . 0.10489511 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . 0.2461 . . . . . . . . . . . . 0 6.324e-05 0 0 0 4.68e-05 0 0.0002 0 5.271e-05 0 0 0 3.398e-05 0 0.0002 . . . . . . UTR3 UTR3 intronic . . . @ . . . 0.43 0.53 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 ENST00000374949:c.*80C>G uc003obt.1:c.*457C>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs9272816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.665e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . rs9272816 rs9272816 rs9272816 rs9272816 1 1538 10 1/0 0,212,255 +rs9272818 6 32610623 T C - HLA-DQA1 4942 Major histocompatibility complex, class II, DQ alpha 1 NM_002122.3 1 1542 768 NP_002113.2 substitution intron GRCh37 32610623 32610623 Chr6(GRCh37):g.32610623T>C *20+62 *20+62 NM_002122.3:c.*20+62T>C p.? p.? 4 4 146880 62 5' 94.3644 X.71 0.976747 5.11242 94.3644 X.71 0.976747 5.27749 0 rs9272818 yes no Frequency 1 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000104 0.000000 0.000000 0.000000 0.000000 0.000104 1 0 0 0 1 0 0 0 0 130972 8776 15410 5244 9644 18972 57604 12204 3118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 139 Exomes transition T C T>C 0.000 -1.247 179 PASS . . . . . . . . . . . . . . . . 0.11034483 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . INTRON(MODIFIER||||HLA-DQA1|mRNA|CODING|NM_002122|) . . . . . . . -0.0865 . . . . . . . . 1.581e-05 . . . 0 2.933e-05 0 0 0 6.608e-05 0 0 0 2.363e-05 0 0 0 4.566e-05 0 0 . . . . . . UTR3 UTR3 intronic . . . @ . . . 0.41 0.52 182 ENSG00000196735 HLA-DQA1 HLA-DQA1 ENST00000374949:c.*82T>C uc003obt.1:c.*459T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.635e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs9272818 rs9272818 rs9272818 rs9272818 1 1538 10 1/0 0,211,255 +rs36203457 6 32628548 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32628548 32628548 Chr6(GRCh37):g.32628548A>G 796+88 796+88 NM_001243961.1:c.796+88T>C p.? p.? 5 5 604305 88 5' 82.2784 8.55262 0.927609 4.64344 82.2784 8.55262 0.927609 4.64344 0 rs36203457 yes no Frequency/1000G 2 0.000000 0 0.166933 0.186100 0.122700 0.173600 0.167000 0.183000 transition T C T>C 0.000 -2.297 255 PASS . . . . . 0.19 0.17 0.18 0.17 0.17 0.12 . . . . . 0.33333334 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . -0.2557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.1669 . . . 0.32 0.49 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 9656 0.148609 64976 9222 0.153736 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs36203457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs36203457 rs36203457 rs36203457 . 1 1538 10 1/0 0,255,255 +rs36203457 6 32628548 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32628548 32628548 Chr6(GRCh37):g.32628548A>G *42 *42 NR_133907.1:n.*42A>G p.? p.? 2 417 3' 0 0 0 0 0 0 0 0 0 rs36203457 yes no Frequency/1000G 2 0.000000 0 0.166933 0.186100 0.122700 0.173600 0.167000 0.183000 transition A G A>G 0.000 -2.297 255 PASS . . . . . 0.19 0.17 0.18 0.17 0.17 0.12 . . . . . 0.33333334 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . -0.2557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.1669 . . . 0.32 0.49 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 9656 0.148609 64976 9222 0.153736 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs36203457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs36203457 rs36203457 rs36203457 . 1 1538 10 1/0 0,255,255 +rs9273704 6 32629297 T C - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629297 32629297 Chr6(GRCh37):g.32629297T>C 662-63 662-63 NM_001243961.1:c.662-63A>G p.? p.? 4 3 604305 -63 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 4.03887 0 rs9273704 yes no Frequency/1000G 2 0.000000 0 0.560104 0.410000 0.689200 0.617100 0.514900 0.647000 transition A G A>G 0.000 -0.440 255 PASS 0.45 0.61 0.67 0.75 0.59 0.41 0.56 0.65 0.62 0.51 0.69 . . . . . 0.5375 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . 0.1524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.4399 . . . 0.23 0.3 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273704 0.217 0.246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs9273704 rs9273704 rs9273704 . 1 1538 10 1/0 0,255,255 +rs9273704 6 32629297 T C - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629297 32629297 Chr6(GRCh37):g.32629297T>C *791 *791 NR_133907.1:n.*791T>C p.? p.? 2 1166 3' 0 0 0 0 0 0 0 0 0 rs9273704 yes no Frequency/1000G 2 0.000000 0 0.560104 0.410000 0.689200 0.617100 0.514900 0.647000 transition T C T>C 0.000 -0.440 255 PASS 0.45 0.61 0.67 0.75 0.59 0.41 0.56 0.65 0.62 0.51 0.69 . . . . . 0.5375 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . 0.1524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.4399 . . . 0.23 0.3 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273704 0.217 0.246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.75 rs9273704 rs9273704 rs9273704 . 1 1538 10 1/0 0,255,255 +rs9273710 6 32629314 G A - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629314 32629314 Chr6(GRCh37):g.32629314G>A 662-80 662-80 NM_001243961.1:c.662-80C>T p.? p.? 4 3 604305 -80 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.47689 0 Cryptic Acceptor Weakly Activated 32629308 5.52509 0.676661 81.3257 6.04127 0.763241 83.429 rs9273710 yes no Frequency/1000G 2 0.000000 0 0.450080 0.398600 0.416200 0.418700 0.472200 0.609500 transition C T C>T 0.000 -3.023 255 PASS . . . . . 0.4 0.45 0.61 0.42 0.47 0.42 . . . . . 0.47887325 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . -0.5108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.4501 . . . 0.31 0.3 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273710 0.315 0.319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 rs9273710 rs9273710 rs9273710 rs9273710 1 1538 10 1/0 0,255,255 +rs9273710 6 32629314 G A - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629314 32629314 Chr6(GRCh37):g.32629314G>A *808 *808 NR_133907.1:n.*808G>A p.? p.? 2 1183 3' 0 0 0 0 0 0 0 0 0 rs9273710 yes no Frequency/1000G 2 0.000000 0 0.450080 0.398600 0.416200 0.418700 0.472200 0.609500 transition G A G>A 0.000 -3.023 255 PASS . . . . . 0.4 0.45 0.61 0.42 0.47 0.42 . . . . . 0.47887325 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . -0.5108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.4501 . . . 0.31 0.3 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273710 0.315 0.319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 rs9273710 rs9273710 rs9273710 rs9273710 1 1538 10 1/0 0,255,255 +rs41270897 6 32629316 G T - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629316 32629316 Chr6(GRCh37):g.32629316G>T 662-82 662-82 NM_001243961.1:c.662-82C>A p.? p.? 4 3 604305 -82 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.79871 0 rs41270897 yes no Frequency/1000G 2 0.000000 0 0.128994 0.128600 0.099200 0.140900 0.122300 0.164300 transversion C A C>A 0.000 -0.763 255 PASS . . . . . 0.13 0.13 0.16 0.14 0.12 0.099 . . . . . 0.44871795 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.0284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.1290 . . . 0.31 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 6172 0.0949889 64976 6069 0.101174 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs41270897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs41270897 rs41270897 rs41270897 . 1 1538 10 1/0 0,255,255 +rs41270897 6 32629316 G T - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629316 32629316 Chr6(GRCh37):g.32629316G>T *810 *810 NR_133907.1:n.*810G>T p.? p.? 2 1185 3' 0 0 0 0 0 0 0 0 0 rs41270897 yes no Frequency/1000G 2 0.000000 0 0.128994 0.128600 0.099200 0.140900 0.122300 0.164300 transversion G T G>T 0.000 -0.763 255 PASS . . . . . 0.13 0.13 0.16 0.14 0.12 0.099 . . . . . 0.44871795 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.0284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.1290 . . . 0.31 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 6172 0.0949889 64976 6069 0.101174 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs41270897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs41270897 rs41270897 rs41270897 . 1 1538 10 1/0 0,255,255 +rs9273713 6 32629320 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629320 32629320 Chr6(GRCh37):g.32629320A>G 662-86 662-86 NM_001243961.1:c.662-86T>C p.? p.? 4 3 604305 -86 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273713 yes no Frequency/1000G 2 0.000000 0 0.782748 0.674000 0.858900 0.871000 0.733600 0.825600 transition T C T>C 0.000 -0.924 255 PASS 0.68 0.79 0.85 0.85 0.77 0.67 0.78 0.83 0.87 0.73 0.86 . . . . . 0.46753246 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.1232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.2173 . . . 0.25 0.27 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273713 0.674 0.710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.85 rs9273713 rs9273713 rs9273713 rs9273713 1 1538 10 1/0 0,255,255 +rs9273713 6 32629320 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629320 32629320 Chr6(GRCh37):g.32629320A>G *814 *814 NR_133907.1:n.*814A>G p.? p.? 2 1189 3' 0 0 0 0 0 0 0 0 0 rs9273713 yes no Frequency/1000G 2 0.000000 0 0.782748 0.674000 0.858900 0.871000 0.733600 0.825600 transition A G A>G 0.000 -0.924 255 PASS 0.68 0.79 0.85 0.85 0.77 0.67 0.78 0.83 0.87 0.73 0.86 . . . . . 0.46753246 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.1232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.2173 . . . 0.25 0.27 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273713 0.674 0.710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.85 rs9273713 rs9273713 rs9273713 rs9273713 1 1538 10 1/0 0,255,255 +rs28724242 6 32629331 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629331 32629331 Chr6(GRCh37):g.32629331A>G 662-97 662-97 NM_001243961.1:c.662-97T>C p.? p.? 4 3 604305 -97 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs28724242 yes no Frequency/1000G 2 0.000000 0 0.341454 0.204200 0.380400 0.470200 0.276300 0.455300 transition T C T>C 0.000 -1.893 255 PASS . . . . . 0.2 0.34 0.46 0.47 0.28 0.38 . . . . . 0.41558442 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.3351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.3415 . . . 0.28 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 7062 0.108686 64976 6355 0.105941 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724242 0.130 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.13 rs28724242 rs28724242 rs28724242 rs28724242 1 1538 10 1/0 0,255,255 +rs28724242 6 32629331 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629331 32629331 Chr6(GRCh37):g.32629331A>G *825 *825 NR_133907.1:n.*825A>G p.? p.? 2 1200 3' 0 0 0 0 0 0 0 0 0 rs28724242 yes no Frequency/1000G 2 0.000000 0 0.341454 0.204200 0.380400 0.470200 0.276300 0.455300 transition A G A>G 0.000 -1.893 255 PASS . . . . . 0.2 0.34 0.46 0.47 0.28 0.38 . . . . . 0.41558442 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.3351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.3415 . . . 0.28 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 7062 0.108686 64976 6355 0.105941 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724242 0.130 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.13 rs28724242 rs28724242 rs28724242 rs28724242 1 1538 10 1/0 0,255,255 +rs9273721 6 32629341 C A - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629341 32629341 Chr6(GRCh37):g.32629341C>A 662-107 662-107 NM_001243961.1:c.662-107G>T p.? p.? 4 3 604305 -107 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273721 yes no Frequency/1000G 2 0.000000 0 transversion G T G>T 0.000 0.205 255 PASS 0.24 0.22 0.22 0.24 0.2 . . . . . . . . . . . 0.41666666 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . 0.0857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.22 0.31 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273721 0.130 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 rs9273721 rs9273721 rs9273721 rs9273721 1 1538 10 1/0 0,255,255 +rs9273721 6 32629341 C A - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629341 32629341 Chr6(GRCh37):g.32629341C>A *835 *835 NR_133907.1:n.*835C>A p.? p.? 2 1210 3' 0 0 0 0 0 0 0 0 0 rs9273721 yes no Frequency/1000G 2 0.000000 0 transversion C A C>A 0.000 0.205 255 PASS 0.24 0.22 0.22 0.24 0.2 . . . . . . . . . . . 0.41666666 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . 0.0857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.22 0.31 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273721 0.130 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 rs9273721 rs9273721 rs9273721 rs9273721 1 1538 10 1/0 0,255,255 +rs28724243 6 32629347 T C - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629347 32629347 Chr6(GRCh37):g.32629347T>C 662-113 662-113 NM_001243961.1:c.662-113A>G p.? p.? 4 3 604305 -113 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs28724243 yes no Frequency/1000G 2 0.000000 0 0.352037 0.215600 0.381400 0.489100 0.287300 0.465400 transition A G A>G 0.000 0.286 255 PASS . . . . . 0.22 0.35 0.47 0.49 0.29 0.38 . . . . . 0.43939394 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.2238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.3520 . . . 0.21 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 8146 0.125369 64976 7208 0.120161 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724243 0.261 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs28724243 rs28724243 rs28724243 . 1 1538 10 1/0 0,255,255 +rs28724243 6 32629347 T C - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629347 32629347 Chr6(GRCh37):g.32629347T>C *841 *841 NR_133907.1:n.*841T>C p.? p.? 2 1216 3' 0 0 0 0 0 0 0 0 0 rs28724243 yes no Frequency/1000G 2 0.000000 0 0.352037 0.215600 0.381400 0.489100 0.287300 0.465400 transition T C T>C 0.000 0.286 255 PASS . . . . . 0.22 0.35 0.47 0.49 0.29 0.38 . . . . . 0.43939394 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.2238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.3520 . . . 0.21 0.29 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . 8146 0.125369 64976 7208 0.120161 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724243 0.261 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs28724243 rs28724243 rs28724243 . 1 1538 10 1/0 0,255,255 +. 6 32629368 A AG - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 duplication intron GRCh37 32629368 32629369 Chr6(GRCh37):g.32629369dup 662-135 662-135 NM_001243961.1:c.662-135dup p.? p.? 4 3 604305 -134 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs369571123 yes no Frequency/1000G 2 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.3773585 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28986211 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . . . 1 1538 10 1.I 0,12,42 +. 6 32629368 A AG - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 duplication downstream GRCh37 32629370 32629371 Chr6(GRCh37):g.32629370dup *864 *864 NR_133907.1:n.*864dup p.? p.? 2 1239 3' 0 0 0 0 0 0 0 0 0 rs369571123 yes no Frequency/1000G 2 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.3773585 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28986211 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . . . 1 1538 10 1.I 0,12,42 +rs9273742 6 32629380 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629380 32629380 Chr6(GRCh37):g.32629380A>G 662-146 662-146 NM_001243961.1:c.662-146T>C p.? p.? 4 3 604305 -146 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273742 yes no Frequency/1000G 2 0.000000 0 transition T C T>C 0.000 -3.588 255 PASS . . . . . . . . . . . . . . . . 0.37254903 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.7533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.27 0.34 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273742 0.478 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.48 . . rs9273742 . 1 1538 10 1/0 0,255,255 +rs9273742 6 32629380 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629380 32629380 Chr6(GRCh37):g.32629380A>G *874 *874 NR_133907.1:n.*874A>G p.? p.? 2 1249 3' 0 0 0 0 0 0 0 0 0 rs9273742 yes no Frequency/1000G 2 0.000000 0 transition A G A>G 0.000 -3.588 255 PASS . . . . . . . . . . . . . . . . 0.37254903 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.7533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.27 0.34 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273742 0.478 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.48 . . rs9273742 . 1 1538 10 1/0 0,255,255 +rs28724245 6 32629400 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629400 32629400 Chr6(GRCh37):g.32629400A>G 662-166 662-166 NM_001243961.1:c.662-166T>C p.? p.? 4 3 604305 -166 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs28724245 yes no Frequency/1000G 2 0.000000 0 0.318490 0.236800 0.239300 0.395800 0.312100 0.482700 transition T C T>C 0.000 -1.005 246 PASS . . . . . 0.24 0.32 0.48 0.4 0.31 0.24 . . . . . 0.2972973 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.0201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.3185 . . . 0.26 0.31 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*551T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724245 0.152 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . 0.15 rs28724245 rs28724245 rs28724245 . 1 1538 10 1/0 0,255,255 +rs28724245 6 32629400 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629400 32629400 Chr6(GRCh37):g.32629400A>G *894 *894 NR_133907.1:n.*894A>G p.? p.? 2 1269 3' 0 0 0 0 0 0 0 0 0 rs28724245 yes no Frequency/1000G 2 0.000000 0 0.318490 0.236800 0.239300 0.395800 0.312100 0.482700 transition A G A>G 0.000 -1.005 246 PASS . . . . . 0.24 0.32 0.48 0.4 0.31 0.24 . . . . . 0.2972973 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.0201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.3185 . . . 0.26 0.31 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*551T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs28724245 0.152 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . 0.15 rs28724245 rs28724245 rs28724245 . 1 1538 10 1/0 0,255,255 +rs9273754 6 32629409 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629409 32629409 Chr6(GRCh37):g.32629409A>G 662-175 662-175 NM_001243961.1:c.662-175T>C p.? p.? 4 3 604305 -175 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273754 yes no Frequency/1000G 2 0.000000 0 0.794529 0.690600 0.863000 0.881900 0.749500 0.834300 transition T C T>C 0.000 -0.763 251 PASS . . . . . 0.69 0.79 0.83 0.88 0.75 0.86 . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.0227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.2055 . . . 0.22 0.28 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*542T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273754 0.380 0.399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . 0.38 rs9273754 rs9273754 rs9273754 . 1 1538 10 1/0 0,255,255 +rs9273754 6 32629409 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629409 32629409 Chr6(GRCh37):g.32629409A>G *903 *903 NR_133907.1:n.*903A>G p.? p.? 2 1278 3' 0 0 0 0 0 0 0 0 0 Cryptic Donor Strongly Activated 32629404 0.007051 62.1291 8.34018 0.778003 74.2807 rs9273754 yes no Frequency/1000G 2 0.000000 0 0.794529 0.690600 0.863000 0.881900 0.749500 0.834300 transition A G A>G 0.000 -0.763 251 PASS . . . . . 0.69 0.79 0.83 0.88 0.75 0.86 . . . . . 0.31428573 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.0227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.2055 . . . 0.22 0.28 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*542T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273754 0.380 0.399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . 0.38 rs9273754 rs9273754 rs9273754 . 1 1538 10 1/0 0,255,255 +rs9273764 6 32629425 G A - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629425 32629425 Chr6(GRCh37):g.32629425G>A 662-191 662-191 NM_001243961.1:c.662-191C>T p.? p.? 4 3 604305 -191 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273764 yes no Frequency/1000G 2 0.000000 0 0.151558 0.160400 0.102200 0.172600 0.149100 0.177200 transition C T C>T 0.000 -2.135 255 PASS 0.17 0.17 0.2 0.17 0.16 0.16 0.15 0.18 0.17 0.15 0.1 . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.3607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1516 . . . 0.36 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*526C>T . . . . 5589 0.0860164 64976 5087 0.0848031 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273764 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 rs9273764 rs9273764 rs9273764 . 1 1538 10 1/0 0,255,255 +rs9273764 6 32629425 G A - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629425 32629425 Chr6(GRCh37):g.32629425G>A *919 *919 NR_133907.1:n.*919G>A p.? p.? 2 1294 3' 0 0 0 0 0 0 0 0 0 rs9273764 yes no Frequency/1000G 2 0.000000 0 0.151558 0.160400 0.102200 0.172600 0.149100 0.177200 transition G A G>A 0.000 -2.135 255 PASS 0.17 0.17 0.2 0.17 0.16 0.16 0.15 0.18 0.17 0.15 0.1 . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.3607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1516 . . . 0.36 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*526C>T . . . . 5589 0.0860164 64976 5087 0.0848031 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273764 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 rs9273764 rs9273764 rs9273764 . 1 1538 10 1/0 0,255,255 +rs9273767 6 32629432 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629432 32629432 Chr6(GRCh37):g.32629432A>G 662-198 662-198 NM_001243961.1:c.662-198T>C p.? p.? 4 3 604305 -198 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273767 yes no Frequency/1000G 2 0.000000 0 0.499601 0.450800 0.432500 0.489100 0.531800 0.655600 transition T C T>C 0.000 -1.005 255 PASS . . . . . 0.45 0.5 0.66 0.49 0.53 0.43 . . . . . 0.3846154 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.0036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.4996 . . . 0.23 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*519T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273767 0.348 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.35 rs9273767 rs9273767 rs9273767 . 1 1538 10 1/0 0,255,255 +rs9273767 6 32629432 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629432 32629432 Chr6(GRCh37):g.32629432A>G *926 *926 NR_133907.1:n.*926A>G p.? p.? 2 1301 3' 0 0 0 0 0 0 0 0 0 rs9273767 yes no Frequency/1000G 2 0.000000 0 0.499601 0.450800 0.432500 0.489100 0.531800 0.655600 transition A G A>G 0.000 -1.005 255 PASS . . . . . 0.45 0.5 0.66 0.49 0.53 0.43 . . . . . 0.3846154 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.0036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.4996 . . . 0.23 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*519T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273767 0.348 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.35 rs9273767 rs9273767 rs9273767 . 1 1538 10 1/0 0,255,255 +rs9273772 6 32629438 T C - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629438 32629438 Chr6(GRCh37):g.32629438T>C 662-204 662-204 NM_001243961.1:c.662-204A>G p.? p.? 4 3 604305 -204 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273772 yes no Frequency/1000G 2 0.000000 0 0.497204 0.448600 0.432500 0.488100 0.527800 0.649900 transition A G A>G 0.000 -0.763 254 PASS . . . . . 0.45 0.5 0.65 0.49 0.53 0.43 . . . . . 0.33333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . -0.2087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.4972 . . . 0.25 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*513A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . rs9273772 rs9273772 rs9273772 . 1 1538 10 1/0 0,255,255 +rs9273772 6 32629438 T C - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629438 32629438 Chr6(GRCh37):g.32629438T>C *932 *932 NR_133907.1:n.*932T>C p.? p.? 2 1307 3' 0 0 0 0 0 0 0 0 0 rs9273772 yes no Frequency/1000G 2 0.000000 0 0.497204 0.448600 0.432500 0.488100 0.527800 0.649900 transition T C T>C 0.000 -0.763 254 PASS . . . . . 0.45 0.5 0.65 0.49 0.53 0.43 . . . . . 0.33333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . -0.2087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.4972 . . . 0.25 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*513A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . rs9273772 rs9273772 rs9273772 . 1 1538 10 1/0 0,255,255 +rs9273774 6 32629439 G A - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629439 32629439 Chr6(GRCh37):g.32629439G>A 662-205 662-205 NM_001243961.1:c.662-205C>T p.? p.? 4 3 604305 -205 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273774 no no 0 0.000000 0 transition C T C>T 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.3478261 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.1698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . @ . . . 0.27 0.21 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*512C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9273774 rs9273774 rs9273774 . 1 1538 10 1/0 0,255,255 +rs9273774 6 32629439 G A - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629439 32629439 Chr6(GRCh37):g.32629439G>A *933 *933 NR_133907.1:n.*933G>A p.? p.? 2 1308 3' 0 0 0 0 0 0 0 0 0 rs9273774 no no 0 0.000000 0 transition G A G>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.3478261 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.1698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . @ . . . 0.27 0.21 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*512C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9273774 rs9273774 rs9273774 . 1 1538 10 1/0 0,255,255 +rs9273777 6 32629443 T C - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629443 32629443 Chr6(GRCh37):g.32629443T>C 662-209 662-209 NM_001243961.1:c.662-209A>G p.? p.? 4 3 604305 -209 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273777 yes no Frequency/1000G 2 0.000000 0 0.802117 0.702000 0.869100 0.886900 0.760400 0.835700 transition A G A>G 0.000 -0.763 255 PASS . . . . . 0.7 0.8 0.84 0.89 0.76 0.87 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1979 . . . 0.21 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*508A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273777 0.630 0.681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9273777 rs9273777 rs9273777 . 1 1538 10 1/0 0,255,255 +rs9273777 6 32629443 T C - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629443 32629443 Chr6(GRCh37):g.32629443T>C *937 *937 NR_133907.1:n.*937T>C p.? p.? 2 1312 3' 0 0 0 0 0 0 0 0 0 rs9273777 yes no Frequency/1000G 2 0.000000 0 0.802117 0.702000 0.869100 0.886900 0.760400 0.835700 transition T C T>C 0.000 -0.763 255 PASS . . . . . 0.7 0.8 0.84 0.89 0.76 0.87 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1979 . . . 0.21 0.25 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*508A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273777 0.630 0.681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.63 rs9273777 rs9273777 rs9273777 . 1 1538 10 1/0 0,255,255 +rs9273781 6 32629447 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629447 32629447 Chr6(GRCh37):g.32629447A>G 662-213 662-213 NM_001243961.1:c.662-213T>C p.? p.? 4 3 604305 -213 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs9273781 yes no Frequency/1000G 2 0.000000 0 0.803115 0.702700 0.869100 0.887900 0.762400 0.837200 transition T C T>C 0.000 -3.265 255 PASS . . . . . 0.7 0.8 0.84 0.89 0.76 0.87 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.5431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1969 . . . 0.28 0.28 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*504T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273781 0.652 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.65 rs9273781 rs9273781 rs9273781 rs9273781 1 1538 10 1/0 0,255,255 +rs9273781 6 32629447 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629447 32629447 Chr6(GRCh37):g.32629447A>G *941 *941 NR_133907.1:n.*941A>G p.? p.? 2 1316 3' 0 0 0 0 0 0 0 0 0 New Acceptor Site 32629448 5.63463 0.515365 91.1571 rs9273781 yes no Frequency/1000G 2 0.000000 0 0.803115 0.702700 0.869100 0.887900 0.762400 0.837200 transition A G A>G 0.000 -3.265 255 PASS . . . . . 0.7 0.8 0.84 0.89 0.76 0.87 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.5431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1969 . . . 0.28 0.28 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*504T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs9273781 0.652 0.688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.65 rs9273781 rs9273781 rs9273781 rs9273781 1 1538 10 1/0 0,255,255 +rs41270899 6 32629450 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32629450 32629450 Chr6(GRCh37):g.32629450A>G 662-216 662-216 NM_001243961.1:c.662-216T>C p.? p.? 4 3 604305 -216 3' 84.9804 6.13136 0.929632 3.64263 84.9804 6.13136 0.929632 3.64263 0 rs41270899 yes no Frequency/1000G 2 0.000000 0 0.152157 0.162600 0.106300 0.169600 0.152100 0.171500 transition T C T>C 0.000 -0.117 255 PASS . . . . . 0.16 0.15 0.17 0.17 0.15 0.11 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . 0.1533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1522 . . . 0.23 0.27 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*501T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs41270899 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs41270899 rs41270899 rs41270899 . 1 1538 10 1/0 0,255,255 +rs41270899 6 32629450 A G - HLA-DQB1-AS1 39762 HLA-DQB1 antisense RNA 1 NR_133907.1 1 552 0 substitution downstream GRCh37 32629450 32629450 Chr6(GRCh37):g.32629450A>G *944 *944 NR_133907.1:n.*944A>G p.? p.? 2 1319 3' 0 0 0 0 0 0 0 0 0 rs41270899 yes no Frequency/1000G 2 0.000000 0 0.152157 0.162600 0.106300 0.169600 0.152100 0.171500 transition A G A>G 0.000 -0.117 255 PASS . . . . . 0.16 0.15 0.17 0.17 0.15 0.11 . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . 0.1533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 intronic . . . 0.1522 . . . 0.23 0.27 182 ENSG00000241287 HLA-DQB1 HLA-DQB1 . uc011dqe.2:c.*501T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs41270899 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs41270899 rs41270899 rs41270899 . 1 1538 10 1/0 0,255,255 +rs9274368 6 32632518 A G - HLA-DQB1 4944 Major histocompatibility complex, class II, DQ beta 1 NM_001243961.1 -1 1664 810 NP_001230890.1 substitution intron GRCh37 32632518 32632518 Chr6(GRCh37):g.32632518A>G 379+57 379+57 NM_001243961.1:c.379+57T>C p.? p.? 2 2 604305 57 5' 86.8044 8.70331 0.959589 14.9522 86.8044 8.70331 0.959589 14.892 0 rs9274368 yes no Frequency/1000G 2 A 0.000000 0 0.414537 0.341100 0.345600 0.431500 0.433400 0.599400 transition T C T>C 0.000 -0.037 177 PASS 0.24 0.34 0.44 0.35 0.34 0.34 0.41 0.6 0.43 0.43 0.35 . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.0366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4145 . . . 0.26 0.49 182 ENSG00000179344 HLA-DQB1 HLA-DQB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs9274368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . 0.44 rs9274368 rs9274368 rs9274368 . 1 1538 10 1/0 0,255,255 +rs200236721 6 32714183 A G - HLA-DQA2 4943 Major histocompatibility complex, class II, DQ alpha 2 NM_020056.4 1 1152 768 NP_064440.1 P01906 substitution 3'UTR GRCh37 32714183 32714183 Chr6(GRCh37):g.32714183A>G *12 *12 NM_020056.4:c.*12A>G p.? p.? 4 613503 -9 5' 94.3644 X.71 0.982696 6.19444 94.3644 X.71 0.982696 6.06785 0 rs200236721 yes no Frequency 1 0.000000 0 0.000075 0.000314 0.000030 0.000101 0.000000 0.000000 0.000058 0.000079 0.000318 0.000314 20 7 1 1 0 0 7 2 2 266588 22316 33684 9900 18346 29986 120700 25360 6296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 7 1 1 0 0 7 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 0.205 222 PASS . . . . . . . . . . . . . . . . 0.15178572 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . -0.1378 . . . . . . . . 6.724e-03 . . . 0.0011 0.0058 0.0081 0.0070 0 0.0044 0 0.0170 0.0013 0.0053 0.0071 0.0144 0 0.0039 0 0.0171 . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.51 0.83 182 ENSG00000237541 HLA-DQA2 HLA-DQA2 ENST00000374940:c.*12A>G uc003obx.3:c.*12A>G NM_020056:c.*12A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200236721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0009 0.0007 0.0013 0.0035 0 0.0006 0.0005 0.0021 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs200236721 rs200236721 1 1538 10 1/0 0,255,255 +rs201822870 6 32714186 A T - HLA-DQA2 4943 Major histocompatibility complex, class II, DQ alpha 2 NM_020056.4 1 1152 768 NP_064440.1 P01906 substitution 3'UTR GRCh37 32714186 32714186 Chr6(GRCh37):g.32714186A>T *15 *15 NM_020056.4:c.*15A>T p.? p.? 4 613503 -6 5' 94.3644 X.71 0.982696 6.19444 94.3644 X.71 0.983948 6.28057 0.000424682 New Acceptor Site 32714192 0.52559 2,00E-06 65.6492 rs201822870 yes no Frequency 1 0.000000 0 0.000095 0.000316 0.000030 0.000103 0.000000 0.000000 0.000092 0.000119 0.000321 0.000316 25 7 1 1 0 0 11 3 2 264304 22184 33446 9744 18462 28972 120132 25138 6226 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 7 1 1 0 0 11 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.844 200 PASS . . . . . . . . . . . . . . . . 0.16037735 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 106.0 . . . . . . . . . . -0.3308 . . . . . . . . 1.558e-03 . . . 0.0004 0.0013 0.0011 0.0004 0 0.0011 0 0.0029 0.0005 0.0012 0.0009 0.0006 0 0.0011 0 0.0029 . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.52 0.85 182 ENSG00000237541 HLA-DQA2 HLA-DQA2 ENST00000374940:c.*15A>T uc003obx.3:c.*15A>T NM_020056:c.*15A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0009 0.0009 0.0013 0.0034 0 0.0009 0.0008 0.0022 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs201822870 rs201822870 1 1538 10 1/0 0,229,255 +rs758485154 6 32714219 A T - HLA-DQA2 4943 Major histocompatibility complex, class II, DQ alpha 2 NM_020056.4 1 1152 768 NP_064440.1 P01906 substitution intron GRCh37 32714219 32714219 Chr6(GRCh37):g.32714219A>T *20+28 *20+28 NM_020056.4:c.*20+28A>T p.? p.? 4 4 613503 28 5' 94.3644 X.71 0.982696 6.19444 94.3644 X.71 0.982696 6.15611 0 rs758485154 yes no Frequency 1 0.000000 0 0.000253 0.000868 0.000092 0.000102 0.000058 0.000000 0.000284 0.000288 0.000331 0.000868 65 18 3 1 1 0 33 7 2 257156 20728 32620 9836 17156 30250 116228 24292 6046 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 65 18 3 1 1 0 33 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 0.044 225 PASS . . . . . . . . . . . . . . . . 0.22857143 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.0259 . . . . . . . . 5.618e-04 . . . 0.0004 0.0005 0.0010 0.0009 0.0008 0.0003 0 0.0004 0.0005 0.0004 0.0010 0.0008 0.0006 0.0003 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000237541 HLA-DQA2 HLA-DQA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.264e-06 3.113e-05 0 0 0 0 0 0 0.0026 0.0028 0.0041 0.0042 0.0010 0.0029 0.0030 0.0027 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs777246915 6 32714222 T G - HLA-DQA2 4943 Major histocompatibility complex, class II, DQ alpha 2 NM_020056.4 1 1152 768 NP_064440.1 P01906 substitution intron GRCh37 32714222 32714222 Chr6(GRCh37):g.32714222T>G *20+31 *20+31 NM_020056.4:c.*20+31T>G p.? p.? 4 4 613503 31 5' 94.3644 X.71 0.982696 6.19444 94.3644 X.71 0.982696 VI.22 0 Cryptic Donor Weakly Activated 32714224 1.1297 0.01027 59.3191 1.20433 0.013048 60.3925 rs777246915 yes no Frequency 1 0.000000 0 0.000243 0.000764 0.000091 0.000101 0.000115 0.000000 0.000273 0.000287 0.000329 0.000764 63 16 3 1 2 0 32 7 2 259128 20954 32926 9880 17438 30298 117128 24426 6078 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 16 3 1 2 0 32 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -0.198 228 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.0542 . . . . . . . . 5.839e-04 . . . 0.0003 0.0005 0.0014 0.0012 0.0012 0.0003 0 0.0003 0.0004 0.0005 0.0014 0.0010 0.0008 0.0003 0 0.0003 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000237541 HLA-DQA2 HLA-DQA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.241e-06 3.087e-05 0 0 0 0 0 0 0.0023 0.0027 0.0038 0.0041 0.0019 0.0028 0.0028 0.0027 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs531738 6 33231191 C G - VPS52 10518 Vacuolar protein sorting 52 homolog (S. cerevisiae) NM_022553.5 -1 3031 2172 NP_072047.4 Q8N1B4 substitution intron GRCh37 33231191 33231191 Chr6(GRCh37):g.33231191C>G 1794+70 1794+70 NM_022553.5:c.1794+70G>C p.? p.? 17 17 603443 70 5' 84.9006 9.46092 0.947069 7.70378 84.9006 9.46092 0.947069 VII.97 0 rs531738 no no 0 C 0.000000 0 transversion G C G>C 0.488 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.61538464 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.4704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.1 182 ENSG00000223501 VPS52 VPS52 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531738 0.087 0.123 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs28550670 rs28550670 rs28550670 rs28550670 1 1538 10 1/0 0,255,255 +. 6 33231191 C CACACACACACACACAG - VPS52 10518 Vacuolar protein sorting 52 homolog (S. cerevisiae) NM_022553.5 -1 3031 2172 NP_072047.4 Q8N1B4 insertion intron GRCh37 33231191 33231192 Chr6(GRCh37):g.33231191_33231192insACACACACACACACAG 1794+69 1794+70 NM_022553.5:c.1794+69_1794+70insCTGTGTGTGTGTGTGT p.? p.? 17 17 603443 69 5' 84.9006 9.46092 0.947069 7.70378 84.9006 9.46092 0.947069 VII.97 0 rs371111517 no no 0 0.000000 0 CTGTGTGTGTGTGTGT 255 Pass . . . . . . . . . . . . . . . . 0.24 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000223501 VPS52 VPS52 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142124369 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,62 +rs561114462 6 33272631 C T - TAPBP 11566 TAP binding protein (tapasin) NM_172208.2 -1 2003 1515 NP_757345.2 substitution intron GRCh37 33272631 33272631 Chr6(GRCh37):g.33272631C>T 868+135 868+135 NM_172208.2:c.868+135G>A p.? p.? 4 4 601962 135 5' 74.2807 8.34018 0.793527 5.92762 74.2807 8.34018 0.793527 5.92762 0 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.1872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . 0.0002 . . . . . . ENSG00000231925 TAPBP TAPBP . uc003ody.3:c.*103G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs45521935 6 33359736 C G - KIFC1 6389 Kinesin family member C1 NM_002263.3 1 2706 2022 NP_002254.2 Q9BW19 substitution 5'UTR GRCh37 33359736 33359736 Chr6(GRCh37):g.33359736C>G -27 -27 NM_002263.3:c.-27C>G p.? p.? 1 603763 -39 5' 95.6376 X.36 0.995365 15.6679 95.6376 X.36 0.995365 16.2845 0 rs45521935 yes no Frequency/1000G 2 C 0.000000 0 0.005591 0.000000 0.002000 0.003000 0.010900 0.017300 0.008434 0.001467 0.007475 0.006427 0.000159 0.004646 0.012086 0.008756 0.012298 0.012086 2324 35 257 65 3 143 1518 224 79 275562 23854 34382 10114 18832 30776 125598 25582 6424 0.000152 0.000084 0.000058 0.000198 0.000000 0.000065 0.000207 0.000235 0.000311 21 1 1 1 0 1 13 3 1 2282 33 255 63 3 141 1492 218 77 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8518 4395 12913 80 11 91 0.00930449 0.0024966 0.00699785 0.00930449 0.0024966 0.00699785 30 transversion C G C>G 0.000 1.255 255 PASS . 0.01 0.02 0.0035 0.01 . 0.0056 0.017 0.003 0.011 0.002 . . . . . 0.3690476 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 168.0 . . UTR_5_PRIME(MODIFIER||||KIFC1|mRNA|CODING|NM_002263.3|NM_002263.3.ex.1) 0.0025 0.007 0.0093 0.0025 0.007 0.0093 . 1.1320 . . . . . . . . 8.654e-03 . . . 0.0024 0.0075 0.0069 0.0005 0.0086 0.0110 0.0115 0.0044 0.0023 0.0087 0.0069 0.0004 0.0088 0.0125 0.0106 0.0044 . . . . . . UTR5 UTR5 UTR5 . . . 0.0056 . . . 0.55 0.55 182 ENSG00000237649 KIFC1 KIFC1 . . NM_002263:c.-27C>G . . . 625 0.00961894 64976 597 0.00995232 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45521935 . . . . . . . . . . . . . . . . . . . . . . . 0.006998 . . . . 3.III 0.0017 0.0085 0.0075 0.0063 0.0001 0.0088 0.0120 0.0132 0.0046 0.0011 0.0080 0.0060 0.0099 0.0006 0.0086 0.0127 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs45521935 rs45521935 rs45521935 rs45521935 1 1538 10 1/0 0,227,255 +rs142110898 6 33372689 C T - KIFC1 6389 Kinesin family member C1 NM_002263.3 1 2706 2022 NP_002254.2 Q9BW19 substitution missense exon GRCh37 33372689 33372689 Chr6(GRCh37):g.33372689C>T 817 817 NM_002263.3:c.817C>T p.Arg273Trp p.Arg273Trp 7 603763 61 3' 85.0442 7.71979 0.063054 9.66053 85.0442 7.71979 0.063054 9.16678 0 Cryptic Acceptor Strongly Activated 33372695 2.94293 0.014632 81.1899 3.94324 0.02197 83.2931 rs142110898 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.003800 0.001000 0.000000 0.001000 0.001400 0.002786 0.001835 0.001308 0.002867 0.000053 0.001820 0.004153 0.002096 0.002632 0.004153 771 44 45 29 1 56 525 54 17 276762 23974 34408 10116 18864 30764 126418 25760 6458 0.000029 0.000000 0.000058 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 4 0 1 0 0 0 3 0 0 763 44 43 29 1 56 519 54 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4396 12969 27 10 37 0.00313953 0.00226963 0.00284484 0.00313953 0.00226963 0.00284484 53 COSM6203365 Liver 0.000422 2371 transition C T C>T 0.094 0.609 R Arg CGG 0.207 W Trp TGG 1.000 273 -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 255 PASS 0.0041 0.0009 . . . 0.0038 0.0016 0.0014 . 0.001 0.001 ENSG00000237649:ENST00000428849:exon7:c.C817T:p.R273W . KIFC1:NM_002263:exon7:c.C817T:p.R273W . . 0.5607477 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.655 . @ . . . . . 1 0.295 . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R273W|KIFC1|mRNA|CODING|NM_002263.3|NM_002263.3.ex.7) 0.0023 0.0028 0.0031 0.0023 0.0028 0.0031 . -0.5309 -0.501 -0.531 c . . . . . 2.873e-03 . . . 0.0022 0.0024 0.0004 0 0.0029 0.0036 0.0043 0.0016 0.0021 0.0028 0.0004 0.0001 0.0026 0.0042 0.0044 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.783 . . exonic exonic exonic . . 0.370 0.0016 . . . 0.61 0.14 182 ENSG00000237649 KIFC1 KIFC1 . . . 1.000 0.454 . 207 0.00318579 64976 199 0.00331744 59986 Uncertain_significance . 0 . 0.151 . . . . D 0.688 0.063 . . 37 . 0.624 . . 0.603 . . . 0.871 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.648 . . 0 0 0 0 0 0 . 0.234 . . 0.154 . . . . . . 0 0.403 . . . . . 0.474 . 0.204 . HET 0.09 rs142110898 . . . . . . . 9.157509157509158E-4 0.0040650406504065045 0.0 0.0 0.0 11.1392 0.00214 ENST00000428849 4.II III.32 . 0.080000 Q9BW19 . . . 0.002845 . 0.337 . . III.32 0.0019 0.0028 0.0013 0.0026 5.799e-05 0.0020 0.0042 0.0029 0.0018 0.0017 0.0029 0.0012 0.0099 0 0.0029 0.0040 0.0010 . . 0.730 . 0.738 0.738000 . . 0.080000 . . 1.0E-255 0.408 0.260 . 0.132 0.162 . 0.276 . 0.176 0.738 -0.241 0.0041 . . rs142110898 rs142110898 1 1538 10 1/0 0,255,255 +rs765301553 6 33626839 C T - ITPR3 6182 Inositol 1,4,5-triphosphate receptor, type 3 NM_002224.3 1 9034 8016 NP_002215.2 Q14573 substitution synonymous exon GRCh37 33626839 33626839 Chr6(GRCh37):g.33626839C>T 570 570 NM_002224.3:c.570C>T p.Ala190= p.Ala190Ala 6 147267 42 3' 81.2741 8.82024 0.960424 XI.13 81.2741 8.82024 0.960424 XI.77 0 Inositol 1,4,5-trisphosphate/ryanodine receptor MIR motif rs765301553 yes no Frequency 1 C 0.000000 0 0.000072 0.000000 0.000000 0.000000 0.000053 0.000065 0.000126 0.000000 0.000155 0.000126 20 0 0 0 1 2 16 0 1 277104 24012 34408 10148 18864 30782 126638 25788 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 0 1 2 16 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.016 -2.216 A Ala GCC 0.403 A Ala GCT 0.263 190 255 PASS . . . . . . . . . . . . ITPR3:uc021ywr.1:exon6:c.C570T:p.A190A ITPR3:NM_002224:exon6:c.C570T:p.A190A . . 0.61290324 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A190|ITPR3|mRNA|CODING|NM_002224|NM_002224.ex.6) . . . . . . . -0.5999 . . . . . . . . 6.314e-05 . . . 0 6.635e-05 0 0 0 0.0001 0 0 0 4.709e-05 0 0 0 9.202e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000096433 ITPR3 ITPR3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs765301553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.905e-05 0 0 5.799e-05 0 0.0001 0.0002 6.497e-05 0 9.703e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62402705 6 34985558 C G - ANKS1A 20961 Ankyrin repeat and sterile alpha motif domain containing 1A NM_015245.2 1 6351 3405 NP_056060.2 Q92625 substitution missense exon GRCh37 34985558 34985558 Chr6(GRCh37):g.34985558C>G 1732 1732 NM_015245.2:c.1732C>G p.Arg578Gly p.Arg578Gly 11 608994 -279 5' 91.9265 X.44 0.997767 7.22344 91.9265 X.44 0.997767 7.22344 0 Cryptic Acceptor Weakly Activated 34985557 4.23633 0.001335 67.5544 4.49517 0.001489 67.5544 rs62402705 yes no Frequency/1000G 2 C 0.000000 0 0.006390 0.000000 0.021500 0.001000 0.008000 0.002900 0.006904 0.000710 0.003342 0.014892 0.000583 0.020695 0.007071 0.001514 0.007278 0.020695 1911 17 115 151 11 637 894 39 47 276806 23958 34414 10140 18860 30780 126434 25762 6458 0.000130 0.000000 0.000000 0.000000 0.000000 0.000715 0.000111 0.000000 0.000000 18 0 0 0 0 11 7 0 0 1875 17 115 151 11 615 880 39 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4401 12941 60 5 65 0.00697674 0.00113482 0.00499769 0.00697674 0.00113482 0.00499769 71 transversion C G C>G 0.913 1.416 R Arg CGC 0.190 G Gly GGC 0.342 578 10 7 Chicken -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C25 42.81 86.56 Deleterious 0.02 IV.32 bad 6.76E-4 0.00156 255 PASS . 0.0027 . 0.0017 0.01 . 0.0064 0.0029 0.001 0.008 0.021 ENSG00000064999:ENST00000360359:exon11:c.C1732G:p.R578G ANKS1A:uc003ojx.4:exon11:c.C1732G:p.R578G ANKS1A:NM_015245:exon11:c.C1732G:p.R578G . . 0.5912409 . . @ 81 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.282 . @ . . . . . 1 0.628 . . 137.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R578G|ANKS1A|mRNA|CODING|NM_015245|NM_015245.ex.11) 0.0011 0.005 0.007 0.0011 0.005 0.007 . -0.2365 -0.104 -0.236 c . . . . . 6.717e-03 . . . 0.0010 0.0079 0.0025 0.0009 0.0021 0.0077 0.0113 0.0199 0.0009 0.0069 0.0025 0.0005 0.0018 0.0064 0.0072 0.0199 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.382 . . exonic exonic exonic . . 0.520 0.0064 . . . 0.6 0.39 182 ENSG00000064999 ANKS1A ANKS1A . . . 1.000 0.747 . 377 0.00580214 64976 345 0.00575134 59986 Uncertain_significance . 0 . 0.224 . . . . . . . . . 37 . 0.151 . . 0.142 . . . 0.380 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 0 0 . 0.184 . . 0.218 . . . . . . 0 0.377 . . . . . 0.537 . 0.347 . HET 0.04 rs62402705 . . . . . . . 0.0027472527472527475 0.0 0.0 0.0017482517482517483 0.006596306068601583 XII.12 8.03E-4 ENST00000360359 V.29 IV.39 . 0.110000 Q92625 . . . 0.004998 . 0.502 . . IV.39 0.0007 0.0073 0.0033 0.0149 0.0006 0.0014 0.0072 0.0071 0.0207 0.0007 0.0038 0.0036 0.0132 0.0006 0.0020 0.0060 0.0081 . . 0.397 . 1.291 1.291000 . . 0.110000 . . 1.0E-255 1.000 0.715 . 0.090 0.013 . 0.453 . 0.062 1.291 -0.022 0.01 rs62402705 rs62402705 rs62402705 rs62402705 1 1538 10 1/0 0,250,255 +rs62404564 6 35088271 T C - TCP11 11658 T-complex 11, testis-specific NM_001093728.2 -1 1930 1551 NP_001087197.1 substitution missense exon GRCh37 35088271 35088271 Chr6(GRCh37):g.35088271T>C 907 907 NM_001093728.2:c.907A>G p.Met303Val p.Met303Val 7 186982 -66 5' 81.5358 8.23527 0.886887 5.83786 81.5358 8.23527 0.886887 V.16 0 T-complex 11 rs62404564 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.000000 0.014300 0.000000 0.004000 0.001400 0.004747 0.000583 0.002303 0.010475 0.000266 0.012508 0.005428 0.000467 0.004509 0.012508 1305 14 79 105 5 382 679 12 29 274938 23996 34308 10024 18830 30540 125094 25714 6432 0.000087 0.000000 0.000000 0.000000 0.000000 0.000655 0.000032 0.000000 0.000000 12 0 0 0 0 10 2 0 0 1281 14 79 105 5 362 675 12 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8548 4401 12949 52 5 57 0.00604651 0.00113482 0.00438259 0.00604651 0.00113482 0.00438259 107 COSM3994904 Kidney 0.000578 1729 transition A G A>G 0.157 0.125 M Met ATG 1.000 V Val GTG 0.468 303 12 7 Dog 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 235.10 0.00 Tolerated 0.29 III.56 255 PASS . 0.0014 . . 0.004 . 0.0038 0.0014 . 0.004 0.014 . . . . . 0.65384614 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.083 . @ . . . . . 1 0.054 . . 104.0 . . . 0.0011 0.0044 0.006 0.0011 0.0044 0.006 . -0.2732 -0.355 -0.273 c . . . . . 4.547e-03 . . . 0.0009 0.0053 0.0017 0.0004 0.0003 0.0058 0.0043 0.0127 0.0008 0.0046 0.0017 0.0001 0.0003 0.0048 0.0044 0.0127 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.111 . . exonic exonic exonic . . 0.207 0.0038 . . . 0.35 0.69 182 ENSG00000124678 TCP11 TCP11 . . . 0.000 0.053 . 268 0.0041246 64976 249 0.00415097 59986 Likely_benign . 0 . 0.216 . . . . . . . . . 37 . 0.236 . . 0.289 . . . 0.357 0.197 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.316 . . 0 0 0 0 0 0 . 0.202 . . 0.230 . . . . . . 0 0.027 . . . . . 0.104 . 0.293 . HET 0.19 rs62404564 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 IV.93 8.03E-4 ENST00000502480 5.III 1.III . 0.290000 . . . . 0.004383 . 0.156 . . . 0.0006 0.0050 0.0023 0.0106 0.0003 0.0005 0.0056 0.0044 0.0125 0.0006 0.0025 0.0024 0.0067 0 0.0006 0.0041 0.0051 . . 0.196 . 0.051 0.051000 . . 0.290000 . . 1.0E-255 0.000 0.063 . 0.452 0.791 . 0.129 . 0.807 0.051 0.991 0.006 rs62404564 rs62404564 rs62404564 rs62404564 1 1538 10 1/0 0,255,255 +rs17854741 6 35200637 T C - SCUBE3 13655 Signal peptide, CUB domain, EGF-like 3 NM_152753.3 1 7713 2982 NP_689966.2 Q8IX30 substitution synonymous exon GRCh37 35200637 35200637 Chr6(GRCh37):g.35200637T>C 480 480 NM_152753.3:c.480T>C p.Asn160= p.Asn160Asn 5 614708 11 3' 87.0277 XI.56 0.994094 13.4015 87.0277 XI.56 0.995387 13.6339 0.000433561 Epidermal growth factor-like rs17854741 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.000000 0.012300 0.000000 0.001000 0.000000 0.002493 0.000125 0.001685 0.008177 0.000212 0.009975 0.001705 0.000155 0.002474 0.009975 691 3 58 83 4 307 216 4 16 277202 24030 34418 10150 18868 30776 126704 25790 6466 0.000029 0.000000 0.000000 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 683 3 58 83 4 299 216 4 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4406 12988 18 0 18 0.00209302 0 0.00138398 0.00209302 0 0.00138398 108 transition T C T>C 1.000 0.770 N Asn AAT 0.464 N Asn AAC 0.536 160 255 PASS . 0.0005 . . 0.0013 . 0.0026 . . 0.001 0.012 . . . . . 0.4854369 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . 0.0014 0.0021 . 0.0014 0.0021 . 1.1733 . . . . . . . . 2.384e-03 . . . 0 0.0030 0.0009 0.0002 0.0003 0.0025 0.0028 0.0094 0 0.0026 0.0008 0.0001 0.0003 0.0019 0.0029 0.0094 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.3 0.32 182 ENSG00000146197 SCUBE3 SCUBE3 . . . . . . 95 0.00146208 64976 82 0.00136699 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17854741 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1939e1 0.001384 . . . . . 6.535e-05 0.0027 0.0017 0.0083 0.0002 0.0001 0.0017 0.0027 0.0100 0.0002 0.0009 0.0024 0.0033 0 0.0003 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0021 rs17854741 rs17854741 rs17854741 rs17854741 1 1538 10 1/0 0,255,255 +rs371400375 6 35965502 A G - SLC26A8 14468 Solute carrier family 26, member 8 NM_052961.3 -1 3434 2913 NP_443193.1 Q96RN1 substitution intron GRCh37 35965502 35965502 Chr6(GRCh37):g.35965502A>G 627+13 627+13 NM_052961.3:c.627+13T>C p.? p.? 5 5 608480 13 5' 84.5905 9.78584 0.953495 1.95701 84.5905 9.78584 0.953495 2.60284 0 rs371400375 yes no Frequency 1 A 0.000000 0 0.000224 0.000000 0.000438 0.000000 0.000000 0.000554 0.000230 0.000000 0.000155 0.000554 62 0 15 0 0 17 29 0 1 276190 24002 34268 10034 18850 30710 126184 25698 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 0 15 0 0 17 29 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 44 transition T C T>C 0.126 0.044 255 PASS . . . . . . . . . . . . . . . . 0.53125 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.5993 . . . . . . . . 2.526e-04 . . . 0.0001 0.0003 0.0005 0 0 0.0003 0 0.0006 0 0.0003 0.0006 0 0 0.0002 0 0.0006 . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.25 182 ENSG00000112053 SLC26A8 SLC26A8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371400375 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv528432 0.000154 . . . . . 0 0.0002 0.0004 0 0 0 0.0003 0.0002 0.0006 0 3.229e-05 0 0 0 0 6.663e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs371400375 rs371400375 1 1538 10 1/0 0,255,255 +rs534196253 6 36198528 G A - BRPF3 14256 Bromodomain and PHD finger containing, 3 NM_015695.2 1 6023 3618 NP_056510.2 Q9ULD4 substitution 3'UTR GRCh37 36198528 36198528 Chr6(GRCh37):g.36198528G>A *142 *142 NM_015695.2:c.*142G>A p.? p.? 13 616856 326 3' 88.849 9.69617 0.940813 4.17628 88.849 9.69617 0.940813 4.17628 0 rs534196253 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30948 8730 836 302 1620 0 14990 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.000 0.448 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . UTR_3_PRIME(MODIFIER||||BRPF3|mRNA|CODING|NM_015695|NM_015695.ex.13) . . . . . . . 0.4365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . . . . ENSG00000096070 BRPF3 BRPF3 . . NM_015695:c.*142G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs534196253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.64 . . . . . . . . . 0 3.231e-05 0 0 0 0 6.671e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201111148 6 36922508 G C - PI16 21245 Peptidase inhibitor 16 NM_153370.2 1 2190 1392 NP_699201.2 Q6UXB8 substitution 5'UTR GRCh37 36922508 36922508 Chr6(GRCh37):g.36922508G>C -29 -29 NM_153370.2:c.-29G>C p.? p.? 1 -200 5' 91.1822 11.0134 0.995339 XII.45 91.1822 11.0134 0.995339 XII.45 0 rs201111148 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000628 0.000128 0.000123 0.000000 0.000000 0.000000 0.001259 0.000239 0.000327 0.001259 165 3 4 0 0 0 150 6 2 262602 23464 32556 8994 18174 29066 119160 25072 6116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 165 3 4 0 0 0 150 6 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4393 12973 14 5 19 0.00162904 0.00113688 0.00146244 0.00162904 0.00113688 0.00146244 38 transversion G C G>C 0.008 -0.198 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.44 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0011 0.0015 0.0016 0.0011 0.0015 0.0016 . 0.5097 . . . . . . . . 6.158e-04 . . . 0.0003 0.0005 0 0 0 0.0010 0 0 0.0003 0.0007 0 0 0 0.0012 0 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0002 . . . 0.74 0.69 182 ENSG00000164530 PI16 PI16 ENST00000373674:c.-29G>C . . . . . 42 0.000646393 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201111148 . . . . . . . . . . . . . . . . . . . . . . . 0.001462 . . . . . 0.0002 0.0006 9.458e-05 0 0 0.0002 0.0012 0.0002 0 0 0.0009 0.0012 0 0 0.0003 0.0016 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0016 . . rs201111148 rs201111148 1 1538 10 1/0 0,255,255 +rs41272196 6 36930690 C G - PI16 21245 Peptidase inhibitor 16 NM_153370.2 1 2190 1392 NP_699201.2 Q6UXB8 substitution intron GRCh37 36930690 36930690 Chr6(GRCh37):g.36930690C>G 593-21 593-21 NM_153370.2:c.593-21C>G p.? p.? 5 4 -21 3' 83.5307 8.26622 0.947256 4.68097 83.5307 8.26622 0.899729 2.42826 -0.0167244 rs41272196 yes no Frequency/1000G 2 C 0.000000 0 0.009984 0.011300 0.003100 0.017900 0.007000 0.010100 0.007772 0.010911 0.013394 0.026575 0.004436 0.005105 0.006448 0.000933 0.017328 0.026575 2004 257 421 216 82 142 760 23 103 257862 23554 31432 8128 18484 27814 117858 24648 5944 0.000178 0.000340 0.000318 0.000738 0.000000 0.000000 0.000119 0.000000 0.001346 23 4 5 3 0 0 7 0 4 1958 249 411 210 82 142 746 23 95 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8562 4352 12914 38 54 92 0.0044186 0.012256 0.00707366 0.0044186 0.012256 0.00707366 33 transversion C G C>G 0.000 -1.812 255 PASS 0.01 0.01 0.01 0.03 0.004 0.011 0.01 0.01 0.018 0.007 0.0031 . . . . . 0.48051947 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . 0.012 0.0071 0.0044 0.012 0.0071 0.0044 . -0.1395 . . . . . . . . 7.973e-03 . . . 0.0124 0.0110 0.0173 0.0113 0.0019 0.0109 0.0277 0.0065 0.0119 0.0085 0.0167 0.0077 0.0014 0.0075 0.0282 0.0064 . . . . . . intronic intronic intronic . . . 0.0100 . . . 0.49 0.35 182 ENSG00000164530 PI16 PI16 . . . . . . 494 0.00760281 64976 444 0.00740173 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41272196 0.022 0.014 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv885815 0.007074 . . . . . 0.0109 0.0080 0.0131 0.0268 0.0048 0.0009 0.0068 0.0195 0.0051 0.0109 0.0064 0.0251 0.0199 0.0006 0.0014 0.0043 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 rs41272196 rs41272196 rs41272196 rs41272196 1 1538 10 1/0 0,255,255 +. 6 37138023 GCA G - PIM1 8986 Pim-1 proto-oncogene, serine/threonine kinase NM_001243186.1 1 2709 1215 NP_001230115.1 P11309 deletion 5'UTR GRCh37 37138024 37138025 Chr6(GRCh37):g.37138024_37138025del -55 -54 NM_001243186.1:c.-55_-54del p.? p.? 1 164960 -409 5' 81.3945 8.72199 0.961051 15.2703 81.3945 8.72199 0.961051 15.2703 0 GC 255 Pass . . . . . . . . . . . . . . . . 0.9583333 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000137193 PIM1 PIM1 ENST00000373509:c.-328_-327del- uc003onk.3:c.-328_-327del- . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs146454660 6 37523080 A C - MIR4462 41549 MicroRNA 4462 NR_039669.1 -1 58 0 substitution downstream GRCh37 37523080 37523080 Chr6(GRCh37):g.37523080A>C *61 *61 NR_039669.1:n.*61T>G p.? p.? 1 rs146454660 yes no Frequency/1000G 2 A 0.000000 0 0.003794 0.000000 0.001000 0.000000 0.015900 0.002900 0.005268 0.001032 0.013126 0.003311 0.000000 0.000000 0.006676 0.008872 0.011202 0.013126 163 9 11 1 0 0 100 31 11 30940 8722 838 302 1622 0 14980 3494 982 0.006135 0.000000 0.000000 0.000000 0.000000 0.000000 0.010000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 161 9 11 1 0 0 98 31 11 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion T G T>G 0.992 0.932 255 PASS . 0.01 0.0028 . 0.02 . 0.0038 0.0029 . 0.016 0.001 . . . . . 0.5 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . DOWNSTREAM(MODIFIER||||MIR4462|Non-coding_transcript|NON_CODING|NR_039669|) . . . . . . . I.90 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . 0.0038 . . . 0.38 0.68 182 ENSG00000263926 MIR4462 MIR4462 . . . . . . 596 0.00917262 64976 576 0.00960224 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146454660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.75 . . . . . . . . . 0.0010 0.0053 0.0131 0.0033 0 0.0089 0.0067 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs146454660 rs146454660 1 1538 10 1/0 0,255,255 +rs755603011 6 42074907 C T - C6orf132 21288 Chromosome 6 open reading frame 132 NM_001164446.2 -1 6742 3567 NP_001157918.1 Q5T0Z8 substitution missense exon GRCh37 42074907 42074907 Chr6(GRCh37):g.42074907C>T 743 743 NM_001164446.2:c.743G>A p.Arg248His p.Arg248His 4 415 3' 93.2313 13.6605 0.996533 17.2882 93.2313 13.6605 0.996533 17.2882 0 rs755603011 yes no Frequency 1 C 0.000000 0 0.000928 0.000214 0.001011 0.000000 0.000000 0.000981 0.001481 0.000000 0.000790 0.001481 82 3 11 0 0 6 60 0 2 88350 14000 10884 1698 8472 6118 40512 4134 2532 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000049 0.000000 0.000000 1 0 0 0 0 0 1 0 0 80 3 11 0 0 6 58 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -1.570 R Arg CGT 0.082 H His CAT 0.413 248 12 6 Platypus 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.35 III.93 255 PASS . . . . . . . . . . . ENSG00000188112:ENST00000341865:exon4:c.G743A:p.R248H C6orf132:uc003orw.2:exon4:c.G743A:p.R248H C6orf132:NM_001164446:exon4:c.G743A:p.R248H . . 0.38297874 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.075 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R248H|C6orf132|mRNA|CODING|NM_001164446|NM_001164446.ex.4) . . . . . . . -1.3338 -1.541 -1.334 c . . . . . 1.973e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.499 . . exonic exonic exonic . . 0.014 @ . . . . . . ENSG00000188112 C6orf132 C6orf132 . . . 1.000 0.489 . 7 0.000107732 64976 7 0.000116694 59986 Uncertain_significance . 0 . . . . . . T 0.180 0.007 . . 37 . 0.081 . . 0.285 . . . 0.103 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.260 . . . . . 0.186 . 0.088 . HET 0.22 rs755603011 . . . . . . . . . . . . V.93 . ENST00000341865 III.54 -7.09 . 0.160000 . . . . . . 0.027 . . . 0.0002 0.0009 0.0008 0 0 0 0.0015 0.0013 0.0010 0.0002 0.0009 0.0036 0 0 0 0.0015 0 . . 0.567 . -2.260 -2.260000 . . 0.160000 . . 1.0E-255 0.000 0.063 . 0.120 0.342 . 0.021 . 0.090 -2.260 -0.867 . . . . . 1 1538 10 1/0 0,255,255 +rs199675094 6 42585113 T C - UBR2 21289 Ubiquitin protein ligase E3 component n-recognin 2 NM_015255.2 1 7898 5268 NP_056070.1 Q8IWV8 substitution intron GRCh37 42585113 42585113 Chr6(GRCh37):g.42585113T>C 1281+37 1281+37 NM_015255.2:c.1281+37T>C p.? p.? 11 11 609134 37 5' 87.1266 10.0978 0.978018 9.15804 87.1266 10.0978 0.978018 9.20801 0 rs199675094 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000981 0.000042 0.000000 0.001678 0.000213 0.000846 0.000301 0.006882 0.001248 0.006882 271 1 0 17 4 26 38 177 8 276270 23970 34294 10130 18798 30742 126208 25720 6408 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 269 1 0 17 4 26 38 175 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 61 transition T C T>C 0.992 1.416 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.4025974 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.85 . . . . . . . . 8.210e-04 . . . 0 0.0006 0 0 0.0056 0.0005 0.0030 0.0008 0 0.0009 0 0.0004 0.0060 0.0006 0.0031 0.0008 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.59 0.18 182 ENSG00000024048 UBR2 UBR2 . . . . . . 39 0.000600222 64976 39 0.000650152 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199675094 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0 0.0010 0 0.0017 0.0002 0.0072 0.0002 0.0013 0.0008 0.0001 0.0010 0 0 0 0.0052 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs199675094 rs199675094 1 1538 10 1/0 0,255,255 +rs149479641 6 42848793 A G - RPL7L1 21370 Ribosomal protein L7 like 1 NM_198486.3 1 3806 768 NP_940888.3 substitution intron GRCh37 42848793 42848793 Chr6(GRCh37):g.42848793A>G 147+89 147+89 NM_198486.3:c.147+89A>G p.? p.? 2 2 617417 89 5' 79.5338 8.73433 0.629345 2.09845 79.5338 8.73433 0.629345 2.09845 0 rs149479641 yes no Frequency/1000G 2 A 0.000000 0 0.007388 0.001500 0.014300 0.000000 0.011900 0.013000 0.009787 0.002521 0.009547 0.026490 0.000000 0.000000 0.015465 0.006873 0.009202 0.026490 303 22 8 8 0 0 232 24 9 30960 8728 838 302 1620 0 15002 3492 978 0.003300 0.000000 0.000000 0.000000 0.000000 0.000000 0.004310 0.000000 0.000000 1 0 0 0 0 0 1 0 0 301 22 8 8 0 0 230 24 9 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -1.086 219 PASS 0.002 0.01 0.01 . 0.01 0.0015 0.0074 0.013 . 0.012 0.014 . . . . . 0.2173913 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . INTRON(MODIFIER||||RPL7L1|mRNA|CODING|NM_198486|) . . . . . . . -0.1098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.0074 . . . 0.2 0.12 182 ENSG00000146223 RPL7L1 RPL7L1 . uc003osr.1:c.-3661A>G . . . . 886 0.0136358 64976 849 0.0141533 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149479641 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830651 . . . . . . . . . . . . . . . 0.0025 0.0098 0.0095 0.0265 0 0.0069 0.0155 0.0092 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . 0.01 . . rs149479641 rs149479641 1 1538 10 1/0 0,255,255 +rs1150800 6 43494319 A G - POLR1C 20194 RNA polymerase I subunit C NM_203290.3 1 1353 1041 NP_976035.1 O15160 substitution downstream GRCh37 43494319 43494319 Chr6(GRCh37):g.43494319A>G *5281 *5281 NM_203290.3:c.*5281A>G p.? p.? 9 610060 5400 3' 84.464 7.35329 0.393488 6.20475 84.464 7.35329 0.393488 6.20475 0 New Acceptor Site 43494320 0.290803 0.003562 70.2257 rs1150800 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30963 8727 838 302 1622 0 15002 3492 980 30964 8728 838 302 1622 0 15002 3492 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15481 4363 419 151 811 0 7501 1746 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition A G A>G 0.000 -3.426 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||XPO5|mRNA|CODING|NM_020750|) . . . . . . . -0.6371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.46 0.08 182 . . XPO5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1150800 1.000 1.000 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv818414 . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1150800 rs1150800 rs1150800 rs1150800 1 1538 255 1.I 0,0,255 +rs1150800 6 43494319 A G - XPO5 17675 Exportin 5 NM_020750.2 -1 5364 3615 NP_065801.1 Q9HAV4 substitution intron GRCh37 43494319 43494319 Chr6(GRCh37):g.43494319A>G 2983+104 2983+104 NM_020750.2:c.2983+104T>C p.? p.? 27 27 607845 104 5' 90.7791 XI.65 0.996692 10.0954 90.7791 XI.65 0.996692 10.0954 0 rs1150800 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30963 8727 838 302 1622 0 15002 3492 980 30964 8728 838 302 1622 0 15002 3492 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15481 4363 419 151 811 0 7501 1746 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition T C T>C 0.000 -3.426 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||XPO5|mRNA|CODING|NM_020750|) . . . . . . . -0.6371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.46 0.08 182 . . XPO5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1150800 1.000 1.000 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv818414 . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1150800 rs1150800 rs1150800 rs1150800 1 1538 255 1.I 0,0,255 +rs144585896 6 46554836 C T - CYP39A1 17449 Cytochrome P450, family 39, subfamily A, polypeptide 1 NM_016593.4 -1 2444 1410 NP_057677.2 Q9NYL5 substitution missense exon GRCh37 46554836 46554836 Chr6(GRCh37):g.46554836C>T 1228 1228 NM_016593.4:c.1228G>A p.Gly410Arg p.Gly410Arg 10 605994 -23 5' 89.8108 8.67858 0.959818 2.22108 89.8108 8.67858 0.959818 2.08525 0 Cytochrome P450 Cytochrome P450, E-class, group IV Cytochrome P450, E-class, group I rs144585896 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.001943 0.000085 0.000646 0.000499 0.000000 0.000000 0.003586 0.001677 0.001725 0.003586 532 2 22 5 0 0 449 43 11 273800 23596 34044 10024 18762 30154 125204 25640 6376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 532 2 22 5 0 0 449 43 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4405 12982 23 1 24 0.00267442 0.000226963 0.0018453 0.00267442 0.000226963 0.0018453 68 COSM3715513 Upper aerodigestive tract 0.001608 1244 transition G A G>A 0.992 3.272 G Gly GGG 0.250 R Arg AGG 0.207 410 12 11 Zebrafish -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C15 206.04 124.98 Deleterious 0 III.42 255 PASS . 0.0005 . . 0.0013 . 0.0004 0.0014 . 0.001 . ENSG00000146233:ENST00000275016:exon10:c.G1228A:p.G410R . . . . 0.42105263 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.926 . @ . . . . . 1 0.988 . . 38.0 . . . 0.0002 0.0018 0.0027 0.0002 0.0018 0.0027 . 0.7470 0.676 0.747 c . . . . . 1.935e-03 . . . 0.0001 0.0014 0.0002 0 0.0010 0.0029 0 0 0.0001 0.0020 0.0002 0 0.0012 0.0036 0.0018 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.988 . . exonic exonic exonic . . 0.666 0.0004 . . . 0.61 0.36 182 ENSG00000146233 CYP39A1 CYP39A1 . . . 0.765 0.235 . 82 0.001262 64976 80 0.00133364 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.951 0.499 . . 37 . 0.992 . . 0.988 . . . 0.815 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.957 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.859 . 0.953 . HET 0 rs144585896 . . . . . . ID\x3dCOSM3715513\x3bOCCURENCE\x3d1(upper_aerodigestive_tract) 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 16.8854 2.68E-4 ENST00000275016 V.91 5.II . 0.000000 . . . . 0.001845 . 0.546 . . 5.II 0 0.0017 0.0006 0.0005 0 0.0016 0.0031 0.0009 0 0.0002 0.0039 0.0012 0 0 0.0020 0.0071 0.0061 . . 0.246 . 1.448 1.448000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.387 0.998 . 0.608 . 0.490 1.448 0.871 0.0027 . . rs144585896 rs144585896 1 1538 10 1/0 0,255,255 +rs141318879 6 55304355 C T - HMGCLL1 21359 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 NM_019036.2 -1 2561 1113 NP_061909.2 Q8TB92 substitution missense exon GRCh37 55304355 55304355 Chr6(GRCh37):g.55304355C>T 888 888 NM_019036.2:c.888G>A p.Met296Ile p.Met296Ile 9 3 3' 89.7881 9.90982 0.952009 4.67335 89.7881 9.45001 0.964426 4.02151 -0.0111188 New Acceptor Site 55304353 III.17 0.764896 Pyruvate carboxyltransferase rs141318879 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.001000 0.001400 0.002618 0.000459 0.002436 0.000099 0.000000 0.000559 0.004413 0.000971 0.004372 0.004413 721 11 83 1 0 17 556 25 28 275448 23966 34072 10068 18812 30406 125980 25740 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 721 11 83 1 0 17 556 25 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8169 3737 11906 31 1 32 0.00378049 0.000267523 0.00268052 0.00378049 0.000267523 0.00268052 85 transition G A G>A 1.000 4.322 M Met ATG 1.000 I Ile ATA 0.163 296 12 7 Zebrafish 2 1 2 0 0 5.VII 5.II 105 111 10 C0 163.31 0.00 Tolerated 0.4 III.69 good 8.023E-1 0.49 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0006 0.0014 . 0.001 . . . . . . 0.4057971 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.488 . @ . . . . . 1 0.465 . . 69.0 . . . 0.0003 0.0027 0.0038 0.0003 0.0027 0.0038 . 0.4000 0.477 0.400 c . . . . . 2.483e-03 . . . 0.0006 0.0024 0.0031 0 0.0005 0.0039 0.0043 0.0004 0.0007 0.0023 0.0032 0 0.0008 0.0035 0.0044 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.981 . . exonic exonic exonic . . 0.836 0.0006 . . . 0.32 0.48 182 ENSG00000146151 HMGCLL1 HMGCLL1 . . . 0.999 0.384 . 213 0.00327813 64976 209 0.00348415 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.912 0.312 . . 37 . 0.973 . . 0.974 . . . 0.885 0.506 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.649 . . 0 0 0 0 0 0 . 0.518 . . 0.464 . . . . . . 0 0.379 . . . . . 0.953 . 0.780 . HET 0.07 rs141318879 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0 0.0 0.0013192612137203166 19.5616 3.28E-4 . V.56 V.56 . 0.070000 . . . . 0.002681 . 0.948 . . V.56 0.0006 0.0026 0.0025 0.0001 0 0.0010 0.0044 0.0044 0.0006 0.0002 0.0026 0 0 0 0.0006 0.0048 0.0041 . . 0.133 . 2.621 2.621000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.848 . 0.439 2.621 0.868 0.0038 . . rs141318879 rs141318879 1 1538 10 1/0 0,255,255 +rs9382769 6 57372199 T C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57372199 57372199 Chr6(GRCh37):g.57372199T>C 694-89 694-89 NM_000947.4:c.694-89T>C p.? p.? 8 7 176636 -89 3' 78.0868 8.88591 0.990632 9.29888 78.0868 8.88591 0.990632 9.29888 0 rs9382769 no no 0 C 0.000000 0 transition T C T>C 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.7173913 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.0014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.29 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9382769 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs9382769 rs9382769 rs9382769 rs9382769 1 1538 10 1/0 0,255,255 +rs201525373 6 57372310 C T - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution missense exon GRCh37 57372310 57372310 Chr6(GRCh37):g.57372310C>T 716 716 NM_000947.4:c.716C>T p.Ala239Val p.Ala239Val 8 176636 23 3' 78.0868 8.88591 0.990632 9.29888 78.0868 8.88591 0.990632 8.80836 0 rs201525373 yes no Frequency 1 C 0.000000 0 0.000907 0.000042 0.000000 0.000000 0.000000 0.000000 0.000444 0.007649 0.001249 0.007649 249 1 0 0 0 0 56 184 8 274682 24020 34340 10148 18852 30782 126082 24054 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 249 1 0 0 0 0 56 184 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8290 3828 12118 2 0 2 0.000241196 0 0.000165017 0.000241196 0 0.000165017 125 COSM284244 Large intestine 0.000448 2231 transition C T C>T 0.992 3.272 A Ala GCT 0.263 V Val GTT 0.178 239 12 6 Zebrafish 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 272.33 0.00 Tolerated 0.36 II.99 205 PASS . . . . . . . . . . . ENSG00000146143:ENST00000607273:exon8:c.C716T:p.A239V PRIM2:uc003pdx.3:exon8:c.C716T:p.A239V UNKNOWN . . 0.1724138 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.478 . @ . . . . . 1 0.172 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A239V|PRIM2|mRNA|CODING|NM_000947|NM_000947.ex.8) . 0.0002 0.0002 . 0.0002 0.0002 . I.53 0.185 1.715 n . . . . . 3.989e-03 . . . 0 0.0021 8.715e-05 0 0.0341 0.0014 0.0028 0 0 0.0036 8.99e-05 0 0.0363 0.0025 0.0087 0 nonsynonymous_SNV nonsynonymous_SNV unknown . . . exonic exonic exonic . . 0.779 @ . . . 0.68 0.67 182 ENSG00000146143 PRIM2 PRIM2 . . . 1.000 0.747 . 35 0.00053866 64976 35 0.000583469 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.174 . . 0.145 . . . . . . 0 . . . . . . 0.711 . 0.218 . HET 0.5 rs201525373 . . . . . . ID\x3dCOSM284244\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . 0.000165 . 0.467 . . 5.IV 0 0.0008 0 0 0 0.0074 0.0003 0.0011 0 0.0001 0.0019 0 0 0 0.0095 0.0017 0.0021 . . 0.038 . . . . . . . . 1.0E-205 0.989 0.365 . 0.750 0.997 . 0.528 . 0.312 . 0.871 0.0002 . . rs201525373 rs201525373 1 1538 10 1/0 0,255,255 +rs75725892 6 57393054 G A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57393054 57393054 Chr6(GRCh37):g.57393054G>A 762-58 762-58 NM_000947.4:c.762-58G>A p.? p.? 9 8 176636 -58 3' 82.9416 7.69789 0.972735 6.25578 82.9416 7.69789 0.972735 6.16465 0 Cryptic Acceptor Weakly Activated 57393058 6.29567 0.012182 80.9762 6.69708 0.030866 80.9762 rs75725892 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.002300 0.001000 0.000000 0.000000 0.004300 transition G A G>A 0.205 0.367 255 PASS . . . . . 0.0023 0.0014 0.0043 . . 0.001 . . . . . 0.59090906 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.7901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.57 0.2 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75725892 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs75725892 rs75725892 1 1538 10 1/0 0,255,255 +rs493737 6 57415161 T G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415161 57415161 Chr6(GRCh37):g.57415161T>G 1020+16844 1020+16844 NM_000947.4:c.1020+16844T>G p.? p.? 10 10 176636 16844 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 rs493737 no no 0 G 0.000000 0 transversion T G T>G 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.66129035 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.3931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.32 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs493737 0.511 0.507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.51 rs493737 rs493737 rs493737 rs493737 1 1538 10 1/0 0,255,255 +rs496135 6 57415173 G A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415173 57415173 Chr6(GRCh37):g.57415173G>A 1020+16856 1020+16856 NM_000947.4:c.1020+16856G>A p.? p.? 10 10 176636 16856 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 rs496135 yes no Frequency/1000G 2 G 0.000000 0 0.003994 0.012900 0.000000 0.000000 0.002000 0.001400 transition G A G>A 0.000 0.044 234 PASS . . . . . 0.013 0.004 0.0014 . 0.002 . . . . . . 0.25675675 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.0850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.47 0.24 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs496135 0.272 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.27 rs496135 rs496135 rs496135 rs496135 1 1538 10 1/0 0,253,255 +rs7741129 6 57415223 A T - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415223 57415223 Chr6(GRCh37):g.57415223A>T 1020+16906 1020+16906 NM_000947.4:c.1020+16906A>T p.? p.? 10 10 176636 16906 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 Cryptic Acceptor Strongly Activated 57415230 0.384488 0.301009 6.29587 0.811627 74.2572 rs7741129 no no 0 A 0.000000 0 transversion A T A>T 0.000 -0.198 235 PASS . . . . . . . . . . . . . . . . 0.26 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.0667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.33 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7741129 0.467 0.420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.47 rs7741129 rs7741129 rs7741129 rs7741129 1 1538 10 1/0 0,240,255 +rs7761558 6 57415231 T C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415231 57415231 Chr6(GRCh37):g.57415231T>C 1020+16914 1020+16914 NM_000947.4:c.1020+16914T>C p.? p.? 10 10 176636 16914 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 rs7761558 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.117 230 PASS . . . . . . . . . . . . . . . . 0.24242425 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.1512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.36 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7761558 0.467 0.413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . 0.47 rs7761558 rs7761558 rs7761558 rs7761558 1 1538 10 1/0 0,239,255 +rs7741689 6 57415309 G C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57415309 57415309 Chr6(GRCh37):g.57415309G>C 1020+16992 1020+16992 NM_000947.4:c.1020+16992G>C p.? p.? 10 10 176636 16992 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 rs7741689 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.3439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.32 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7741689 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs7741689 rs7741689 rs7741689 rs7741689 1 1538 10 1/0 0,255,255 +. 6 57415349 G GA - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 duplication intron GRCh37 57415351 57415352 Chr6(GRCh37):g.57415351dup 1020+17034 1020+17034 NM_000947.4:c.1020+17034dup p.? p.? 10 10 176636 17034 5' 87.3006 8.82915 0.982222 0.599398 87.3006 8.82915 0.982222 0.599398 0 Cryptic Acceptor Strongly Activated 57415368 2,00E-06 69.1904 0.0884966 3,00E-06 69.1904 rs11443745 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . . . . . 0.54 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11412269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs11443745 rs11443745 rs11443745 1 1538 10 1.I 0,12,27 +. 6 57433501 AAAAAAAG A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 deletion intron GRCh37 57433507 57433513 Chr6(GRCh37):g.57433507_57433513del 1021-33573 1021-33567 NM_000947.4:c.1021-33573_1021-33567del p.? p.? 11 10 176636 -33567 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs201029322 yes no Frequency/1000G 2 0.000000 0 0.360623 0.337400 0.376300 0.376000 0.376700 0.337200 AGAAAAA 255 Pass . . . . . 0.34 0.36 0.34 0.38 0.38 0.38 . . . . . 0.4177215 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201029322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201029322 rs201029322 1 1538 10 1.I 0,12,38 +rs518931 6 57433525 T G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57433525 57433525 Chr6(GRCh37):g.57433525T>G 1021-33555 1021-33555 NM_000947.4:c.1021-33555T>G p.? p.? 11 10 176636 -33555 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs518931 no no 0 T 0.000000 0 transversion T G T>G 0.000 -1.489 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.3474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.35 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs518931 0.228 0.232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . 0.23 rs518931 rs518931 rs518931 rs518931 1 1538 10 1/0 0,245,255 +rs562762 6 57433544 G A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57433544 57433544 Chr6(GRCh37):g.57433544G>A 1021-33536 1021-33536 NM_000947.4:c.1021-33536G>A p.? p.? 11 10 176636 -33536 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs562762 no no 0 G 0.000000 0 transition G A G>A 0.000 -1.005 230 PASS . . . . . . . . . . . . . . . . 0.24444444 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.0850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.31 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs562762 0.250 0.246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . 0.25 rs562762 rs562762 rs562762 rs562762 1 1538 10 1/0 0,244,255 +rs4110759 6 57457779 G C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457779 57457779 Chr6(GRCh37):g.57457779G>C 1021-9301 1021-9301 NM_000947.4:c.1021-9301G>C p.? p.? 11 10 176636 -9301 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 Cryptic Donor Weakly Activated 57457781 8.94615 0.983727 84.0719 10.0978 0.989618 87.1266 rs4110759 no no 0 G 0.000000 0 transversion G C G>C 0.043 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.6458333 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.5951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.32 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4110759 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs4110759 rs4110759 rs4110759 rs4110759 1 1538 10 1/0 0,255,255 +rs4110760 6 57457843 T G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457843 57457843 Chr6(GRCh37):g.57457843T>G 1021-9237 1021-9237 NM_000947.4:c.1021-9237T>G p.? p.? 11 10 176636 -9237 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs4110760 no no 0 T 0.000000 0 transversion T G T>G 0.142 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3508772 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.0480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.32 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4110760 0.141 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs4110760 rs4110760 rs4110760 rs4110760 1 1538 10 1/0 0,255,255 +rs2397945 6 57457947 A C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457947 57457947 Chr6(GRCh37):g.57457947A>C 1021-9133 1021-9133 NM_000947.4:c.1021-9133A>C p.? p.? 11 10 176636 -9133 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs2397945 no no 0 A 0.000000 0 transversion A C A>C 0.004 -1.489 242 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.6945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.2 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2397945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs2397945 rs2397945 rs2397945 rs2397945 1 1538 10 1/0 0,255,255 +rs2093718 6 57457960 A G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457960 57457960 Chr6(GRCh37):g.57457960A>G 1021-9120 1021-9120 NM_000947.4:c.1021-9120A>G p.? p.? 11 10 176636 -9120 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 New Donor Site 57457959 0.926018 0.006105 65.1373 rs2093718 no no 0 A 0.000000 0 transition A G A>G 0.004 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.44 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.6111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.21 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2093718 0.337 0.312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.34 rs2093718 rs2093718 rs2093718 rs2093718 1 1538 10 1/0 0,255,255 +rs74595165 6 57457973 C T - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457973 57457973 Chr6(GRCh37):g.57457973C>T 1021-9107 1021-9107 NM_000947.4:c.1021-9107C>T p.? p.? 11 10 176636 -9107 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs74595165 no no 0 C 0.000000 0 transition C T C>T 0.004 -0.924 240 PASS . . . . . . . . . . . . . . . . 0.27906978 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.6166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.21 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74595165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs74595165 rs74595165 1 1538 10 1/0 0,255,255 +rs4598061 6 57457974 T G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57457974 57457974 Chr6(GRCh37):g.57457974T>G 1021-9106 1021-9106 NM_000947.4:c.1021-9106T>G p.? p.? 11 10 176636 -9106 3' 78.2894 6.76053 0.108218 3.25908 78.2894 6.76053 0.108218 3.25908 0 rs4598061 no no 0 T 0.000000 0 transversion T G T>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.6363636 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . -0.5588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.19 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4598061 0.380 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.38 rs4598061 rs4598061 rs4598061 rs4598061 1 1538 10 1/0 0,255,255 +rs6459263 6 57467279 T C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57467279 57467279 Chr6(GRCh37):g.57467279T>C 1147+73 1147+73 NM_000947.4:c.1147+73T>C p.? p.? 11 11 176636 73 5' 91.1822 11.0134 0.996488 5.39248 91.1822 11.0134 0.996488 5.43689 0 rs6459263 no no 0 T 0.000000 0 transition T C T>C 0.039 0.044 237 PASS . . . . . . . . . . . . . . . . 0.26506025 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.2765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.58 0.4 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6459263 0.293 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VIII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.29 rs6459263 rs6459263 rs6459263 rs6459263 1 1538 10 1/0 0,250,255 +rs6459264 6 57467282 T C - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57467282 57467282 Chr6(GRCh37):g.57467282T>C 1147+76 1147+76 NM_000947.4:c.1147+76T>C p.? p.? 11 11 176636 76 5' 91.1822 11.0134 0.996488 5.39248 91.1822 11.0134 0.996488 5.30958 0 rs6459264 yes no Frequency/HapMap 2 T 0.000000 0 transition T C T>C 0.504 3.192 220 PASS . . . . . . . . . . . . . . . . 0.21518987 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.4708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.63 0.44 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6459264 0.293 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . IV.56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.29 rs6459264 rs6459264 rs6459264 rs6459264 1 1538 10 1/0 0,247,255 +rs62400219 6 57472495 C G - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57472495 57472495 Chr6(GRCh37):g.57472495C>G 1230+54 1230+54 NM_000947.4:c.1230+54C>G p.? p.? 12 12 176636 54 5' 89.9194 X.02 0.989742 5.36853 89.9194 X.02 0.989742 5.38225 0 rs62400219 no no 0 C 0.000000 0 transversion C G C>G 0.000 -0.198 213 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.3136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.64 0.35 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62400219 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs62400219 rs62400219 rs62400219 rs62400219 1 1538 10 1/0 0,250,255 +rs3846934 6 57498894 G A - PRIM2 9370 Primase, DNA, polypeptide 2 (58kDa) NM_000947.4 1 2298 1530 NP_000938.2 P49643 substitution intron GRCh37 57498894 57498894 Chr6(GRCh37):g.57498894G>A 1231-73 1231-73 NM_000947.4:c.1231-73G>A p.? p.? 13 12 176636 -73 3' 80.7281 11.0509 0.9926 7.77276 80.7281 11.0509 0.9926 7.60412 0 Cryptic Donor Strongly Activated 57498896 3.19543 0.035013 65.2751 IV.62 0.138535 68.0232 rs3846934 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5882353 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||PRIM2|mRNA|CODING|NM_000947|) . . . . . . . 0.2541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.45 182 ENSG00000146143 PRIM2 PRIM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3846934 0.457 0.457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs3846934 rs3846934 rs3846934 rs3846934 1 1538 10 1/0 0,255,255 +rs373701639 6 74138527 T C - MB21D1 21367 Mab-21 domain containing 1 NM_138441.2 -1 1802 1569 NP_612450.2 Q8N884 substitution synonymous exon GRCh37 74138527 74138527 Chr6(GRCh37):g.74138527T>C 1122 1122 NM_138441.2:c.1122A>G p.Thr374= p.Thr374Thr 4 613973 8 3' 74.962 2.14381 0.003757 II.99 74.962 2.14381 0.009654 2.41498 0.523201 Mab-21 domain rs373701639 yes no Frequency 1 T 0.000000 0 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000222 0.000000 0.000000 0.000222 28 0 0 0 0 0 28 0 0 273826 23926 33416 9974 18616 29990 125884 25658 6362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 0 0 0 0 0 28 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 72 transition A G A>G 1.000 0.286 T Thr ACA 0.280 T Thr ACG 0.116 374 255 PASS . . . . . . . . . . . . MB21D1:uc003pgx.1:exon4:c.A1122G:p.T374T MB21D1:NM_138441:exon4:c.A1122G:p.T374T . . 0.5405405 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T374|MB21D1|mRNA|CODING|NM_138441|NM_138441.ex.4) . 0.0002 0.0003 . 0.0002 0.0003 . 0.9533 . . . . . . . . 1.815e-04 . . . 0 0.0002 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.28 182 ENSG00000164430 MB21D1 MB21D1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373701639 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0001 0 0 0 0 0.0002 0 0 0 3.229e-05 0 0 0 0 6.661e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs373701639 rs373701639 1 1538 10 1/0 0,255,255 +rs201988277 6 75823017 G A - COL12A1 2188 Collagen, type XII, alpha 1 NM_004370.5 -1 11579 9192 NP_004361.3 Q99715 substitution missense exon GRCh37 75823017 75823017 Chr6(GRCh37):g.75823017G>A 7853 7853 NM_004370.5:c.7853C>T p.Thr2618Met p.Thr2618Met 51 120320 13 3' 82.1188 5.79762 0.320894 2.75649 82.1188 5.79762 0.347838 2.58106 0.0279885 Cryptic Acceptor Strongly Activated 75822997 5.33273 0.01023 76.1509 6.11476 0.016952 76.1509 Laminin G, thrombospondin-type, N-terminal rs201988277 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000321 0.000000 0.000000 0.000000 0.000000 0.000041 0.000433 0.000986 0.000556 0.000986 76 0 0 0 0 1 49 23 3 236786 20838 25546 9288 15086 24134 113180 23322 5392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 0 0 0 0 1 49 23 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8108 3632 11740 4 0 4 0.000493097 0 0.000340599 0.000493097 0 0.000340599 75 RCV000487682.2 germline clinical testing VUS 1 not provided COSM451792|COSM451792 Large intestine|Haematopoietic and lymphoid tissue 0.000443|0.000826 2255|3634 transition C T C>T 0.984 2.788 T Thr ACG 0.116 M Met ATG 1.000 2618 15 14 Tetraodon -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 69.84 20.52 Deleterious 0.01 IV.32 bad 8.705E-4 0.001181 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.6666667 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.676 . @ . . . . . 1 0.955 . . 33.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . 0.7973 0.798 0.797 c . . . . . 3.118e-04 . . . 0 0.0002 0 0 0.0008 0.0003 0 6.143e-05 0 0.0003 0 0 0.0012 0.0003 0 6.178e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.934 0.0002 . . . 0.54 0.38 182 ENSG00000111799 COL12A1 COL12A1 . . . 1.000 0.747 . 16 0.000246245 64976 15 0.000250058 59986 Uncertain_significance . 0 . 0.491 . . . . T 0.331 0.014 . . 37 . 0.275 . . 0.161 . . . 0.654 0.332 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.779 . . 0 0 0 0 0 0 . 0.715 . . 0.611 . . . . . . 0 0.784 . . . . . 0.473 . 0.573 . HET 0 rs201988277 . . . . . . . . . . . . 11.1095 0.0 . V.84 V.84 . 0.000000 . . . Name\x3dnsv830697 0.000341 . 0.629 . . V.84 0 0.0003 0 0 0 0.0010 0.0004 0.0007 4.144e-05 0 0.0004 0 0 0 0.0012 0.0005 0 . . 0.609 . 2.748 2.748000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.458 0.997 . 0.720 . 0.538 2.748 0.897 0.0005 . . rs201988277 rs201988277 1 1538 10 1/0 0,255,255 +rs79275696 6 80720488 C A - TTK 12401 TTK protein kinase NM_003318.4 1 3010 2574 NP_003309.2 P33981 substitution intron GRCh37 80720488 80720488 Chr6(GRCh37):g.80720488C>A 470-43 470-43 NM_003318.4:c.470-43C>A p.? p.? 5 4 604092 -43 3' 88.86 8.47486 0.977408 8.09825 88.86 8.47486 0.977408 8.18075 0 rs79275696 yes no Frequency/1000G 2 T 0.000000 0 0.672125 0.712600 0.625800 0.701400 0.559600 0.781000 transversion C A C>A 0.000 -0.279 255 PASS . . . . . 0.71 0.67 0.78 0.7 0.56 0.63 . . . . . 0.3888889 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . -0.3056 . . . . . . . . 4.488e-05 . . . 0 7.888e-05 0 0 0 0.0001 0 0 0 6.273e-05 0 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . 0.3279 . . . 0.25 0.06 182 ENSG00000112742 TTK TTK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79275696 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79275696 rs79275696 1 1538 10 1/0 0,255,255 +rs199796178 6 80720491 T A - TTK 12401 TTK protein kinase NM_003318.4 1 3010 2574 NP_003309.2 P33981 substitution intron GRCh37 80720491 80720491 Chr6(GRCh37):g.80720491T>A 470-40 470-40 NM_003318.4:c.470-40T>A p.? p.? 5 4 604092 -40 3' 88.86 8.47486 0.977408 8.09825 88.86 8.47486 0.977408 7.96599 0 80720494 -6.44385 rs199796178 yes no Frequency/1000G 2 A 0.000000 0 0.672125 0.712600 0.625800 0.701400 0.559600 0.781000 transversion T A T>A 0.000 -0.924 255 PASS . . . . . 0.71 0.67 0.78 0.7 0.56 0.63 . . . . . 0.35 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.4229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3279 . . . 0.22 0.1 182 ENSG00000112742 TTK TTK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199796178 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199796178 rs199796178 1 1538 10 1/0 0,255,255 +. 6 90577706 TGACATCTTTGCCCAG T - CASP8AP2 1510 Caspase 8 associated protein 2 ENST00000551025.3 1 6151 5916 ENSP00000478179 deletion in-frame exon GRCh37 90577707 90577721 Chr6(GRCh37):g.90577707_90577721del 4698 4712 ENST00000551025.3:c.4698_4712del p.Thr1567_1973delinsHisGlyLysGluAlaAspGluGlyProGluLysGluTyrIleSerCysGlnAsnThrValPheLysSerValGluGluLeuGluAsnSerAsnLysAsnValAspGlySerLysSerThrHisGluGluGlnSerSerMetIleGlnThrGlnValProAspIleTyrGluPheLeuLysAspAlaSerAspLysMetGlyHisSerAspGluValAlaAspGluCysPheLysLeuHisGlnValTrpGluThrLysValProGluSerIleGluGluLeuProSerMetGluGluIleSerHisSerValGlyGluHisLeuProAsnThrTyrValAspLeuThrLysAspProValThrGluThrLysAsnLeuGlyGluPheIleGluValThrValLeuHisIleAspGlnLeuGlyCysSerGlyGlyAsnLeuAsnGlnSerAlaGlnIleLeuAspAsnSerLeuGlnAlaAspThrValGlyAlaPheIleAspLeuThrGlnAspAlaSerSerGluAlaLysSerGluGlyAsnHisProAlaLeuAlaValGluAspLeuGlyCysGlyValIleGlnValAspGluAspAsnCysLysGluGluLysAlaGlnValAlaAsnArgProLeuLysCysIleValGluGluThrTyrIleAspLeuThrThrGluSerProSerSerCysGluValLysLysAspGluLeuLysSerGluProGlySerAsnCysAspAsnSerGluLeuProGlyThrLeuHisAsnSerHisLysLysArgArgAsnIleSerAspLeuAsnHisProHisLysLysGlnArgLysGluThrAspLeuThrAsnLysGluLysThrLysLysProThrGlnAspSerCysGluAsnThrGluAlaHisGlnLysLysAlaSerLysLysLysAlaProProValThrLysAspProSerSerLeuLysAlaThrProGlyIleLysAspSerSerAlaAlaLeuAlaThrSerThrSerLeuSerAlaLysAsnValIleLysLysLysGlyGluIleIleIleLeuTrpThrArgAsnAspAspArgGluIleLeuLeuGluCysGlnLysArgGlyProSerPheLysThrPheAlaTyrLeuAlaAlaLysLeuAspLysAsnProAsnGlnValThrThrGlnPheLeuHisLeu p.Thr1567_1973delinsHisGlyLysGluAlaAspGluGlyProGluLysGluTyrIleSerCysGlnAsnThrValPheLysSerValGluGluLeuGluAsnSerAsnLysAsnValAspGlySerLysSerThrHisGluGluGlnSerSerMetIleGlnThrGlnValProAspIleTyrGluPheLeuLysAspAlaSerAspLysMetGlyHisSerAspGluValAlaAspGluCysPheLysLeuHisGlnValTrpGluThrLysValProGluSerIleGluGluLeuProSerMetGluGluIleSerHisSerValGlyGluHisLeuProAsnThrTyrValAspLeuThrLysAspProValThrGluThrLysAsnLeuGlyGluPheIleGluValThrValLeuHisIleAspGlnLeuGlyCysSerGlyGlyAsnLeuAsnGlnSerAlaGlnIleLeuAspAsnSerLeuGlnAlaAspThrValGlyAlaPheIleAspLeuThrGlnAspAlaSerSerGluAlaLysSerGluGlyAsnHisProAlaLeuAlaValGluAspLeuGlyCysGlyValIleGlnValAspGluAspAsnCysLysGluGluLysAlaGlnValAlaAsnArgProLeuLysCysIleValGluGluThrTyrIleAspLeuThrThrGluSerProSerSerCysGluValLysLysAspGluLeuLysSerGluProGlySerAsnCysAspAsnSerGluLeuProGlyThrLeuHisAsnSerHisLysLysArgArgAsnIleSerAspLeuAsnHisProHisLysLysGlnArgLysGluThrAspLeuThrAsnLysGluLysThrLysLysProThrGlnAspSerCysGluAsnThrGluAlaHisGlnLysLysAlaSerLysLysLysAlaProProValThrLysAspProSerSerLeuLysAlaThrProGlyIleLysAspSerSerAlaAlaLeuAlaThrSerThrSerLeuSerAlaLysAsnValIleLysLysLysGlyGluIleIleIleLeuTrpThrArgAsnAspAspArgGluIleLeuLeuGluCysGlnLysArgGlyProSerPheLysThrPheAlaTyrLeuAlaAlaLysLeuAspLysAsnProAsnGlnValThrThrGlnPheLeuHisLeu 8 606880 -1081 5' 94.3644 X.71 0.998747 1.03022 94.3644 X.71 0.998747 1.03022 0 rs781114556 yes no Frequency 1 0.000000 0 GACATCTTTGCCCAG 255 Pass . . . . . . . . . . . . . . . . 0.35 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 40 . . . . . . . . . . . . . . . . . . . 3.202e-04 . . . 0.0001 0.0002 0 0 0.0005 0.0003 0 0 0.0001 0.0003 0 0 0.0003 0.0004 0.0015 0 . nonframeshift_deletion nonframeshift_deletion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000118412 CASP8AP2 CASP8AP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781114556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 6 90577725 TGGA T - CASP8AP2 1510 Caspase 8 associated protein 2 ENST00000551025.3 1 6151 5916 ENSP00000478179 deletion in-frame exon GRCh37 90577726 90577728 Chr6(GRCh37):g.90577726_90577728del 4717 4719 ENST00000551025.3:c.4717_4719del p.Gly1573_1973delinsLysGluAlaAspGluGlyProGluLysGluTyrIleSerCysGlnAsnThrValPheLysSerValGluGluLeuGluAsnSerAsnLysAsnValAspGlySerLysSerThrHisGluGluGlnSerSerMetIleGlnThrGlnValProAspIleTyrGluPheLeuLysAspAlaSerAspLysMetGlyHisSerAspGluValAlaAspGluCysPheLysLeuHisGlnValTrpGluThrLysValProGluSerIleGluGluLeuProSerMetGluGluIleSerHisSerValGlyGluHisLeuProAsnThrTyrValAspLeuThrLysAspProValThrGluThrLysAsnLeuGlyGluPheIleGluValThrValLeuHisIleAspGlnLeuGlyCysSerGlyGlyAsnLeuAsnGlnSerAlaGlnIleLeuAspAsnSerLeuGlnAlaAspThrValGlyAlaPheIleAspLeuThrGlnAspAlaSerSerGluAlaLysSerGluGlyAsnHisProAlaLeuAlaValGluAspLeuGlyCysGlyValIleGlnValAspGluAspAsnCysLysGluGluLysAlaGlnValAlaAsnArgProLeuLysCysIleValGluGluThrTyrIleAspLeuThrThrGluSerProSerSerCysGluValLysLysAspGluLeuLysSerGluProGlySerAsnCysAspAsnSerGluLeuProGlyThrLeuHisAsnSerHisLysLysArgArgAsnIleSerAspLeuAsnHisProHisLysLysGlnArgLysGluThrAspLeuThrAsnLysGluLysThrLysLysProThrGlnAspSerCysGluAsnThrGluAlaHisGlnLysLysAlaSerLysLysLysAlaProProValThrLysAspProSerSerLeuLysAlaThrProGlyIleLysAspSerSerAlaAlaLeuAlaThrSerThrSerLeuSerAlaLysAsnValIleLysLysLysGlyGluIleIleIleLeuTrpThrArgAsnAspAspArgGluIleLeuLeuGluCysGlnLysArgGlyProSerPheLysThrPheAlaTyrLeuAlaAlaLysLeuAspLysAsnProAsnGlnValThrThrGlnPheLeuHisLeu p.Gly1573_1973delinsLysGluAlaAspGluGlyProGluLysGluTyrIleSerCysGlnAsnThrValPheLysSerValGluGluLeuGluAsnSerAsnLysAsnValAspGlySerLysSerThrHisGluGluGlnSerSerMetIleGlnThrGlnValProAspIleTyrGluPheLeuLysAspAlaSerAspLysMetGlyHisSerAspGluValAlaAspGluCysPheLysLeuHisGlnValTrpGluThrLysValProGluSerIleGluGluLeuProSerMetGluGluIleSerHisSerValGlyGluHisLeuProAsnThrTyrValAspLeuThrLysAspProValThrGluThrLysAsnLeuGlyGluPheIleGluValThrValLeuHisIleAspGlnLeuGlyCysSerGlyGlyAsnLeuAsnGlnSerAlaGlnIleLeuAspAsnSerLeuGlnAlaAspThrValGlyAlaPheIleAspLeuThrGlnAspAlaSerSerGluAlaLysSerGluGlyAsnHisProAlaLeuAlaValGluAspLeuGlyCysGlyValIleGlnValAspGluAspAsnCysLysGluGluLysAlaGlnValAlaAsnArgProLeuLysCysIleValGluGluThrTyrIleAspLeuThrThrGluSerProSerSerCysGluValLysLysAspGluLeuLysSerGluProGlySerAsnCysAspAsnSerGluLeuProGlyThrLeuHisAsnSerHisLysLysArgArgAsnIleSerAspLeuAsnHisProHisLysLysGlnArgLysGluThrAspLeuThrAsnLysGluLysThrLysLysProThrGlnAspSerCysGluAsnThrGluAlaHisGlnLysLysAlaSerLysLysLysAlaProProValThrLysAspProSerSerLeuLysAlaThrProGlyIleLysAspSerSerAlaAlaLeuAlaThrSerThrSerLeuSerAlaLysAsnValIleLysLysLysGlyGluIleIleIleLeuTrpThrArgAsnAspAspArgGluIleLeuLeuGluCysGlnLysArgGlyProSerPheLysThrPheAlaTyrLeuAlaAlaLysLeuAspLysAsnProAsnGlnValThrThrGlnPheLeuHisLeu 8 606880 -1074 5' 94.3644 X.71 0.998747 1.03022 94.3644 X.71 0.998747 1.03022 0 rs779785481 yes no Frequency 1 0.000000 0 7538 3626 11164 300 20 320 0.0382751 0.00548546 0.0278649 0.0382751 0.00548546 0.0278649 152 GGA 255 Pass . . . . . . . . . . . . . . . . 0.3255814 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 43 . . . 0.0047 0.026 0.036 0.0055 0.028 0.038 . . . . . . . . . . 3.888e-04 . . . 0 2.69e-05 0 0 0 6.006e-05 0 0 0 3.442e-05 0 0 0 6.902e-05 0 0 . nonframeshift_deletion nonframeshift_deletion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000118412 CASP8AP2 CASP8AP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779785481 . . . . . . . . . . . . . . . . . . . . . . . 0.026380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.036 . . . . 1 1538 10 1.I 0,11,49 +. 6 105845817 A G - PREP 9358 Prolyl endopeptidase NM_002726.4 -1 2943 2133 NP_002717.3 P48147 substitution intron GRCh37 105845817 105845817 Chr6(GRCh37):g.105845817A>G 46-15 46-15 NM_002726.4:c.46-15T>C p.? p.? 2 1 600400 -15 3' 98.7131 XI.94 0.99688 X.68 98.7131 XI.73 0.997084 10.1456 -0.00866623 transition T C T>C 0.008 0.205 255 PASS . . . . . . . . . . . . . . . . 0.6756757 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||PREP|mRNA|CODING|NM_002726|) . . . . . . . 0.5854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000085377 PREP PREP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv886530 . . . . . II.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs532481588 6 108234718 A G - SEC63 21082 SEC63 homolog (S. cerevisiae) NM_007214.4 -1 6500 2283 NP_009145.1 Q9UGP8 substitution intron GRCh37 108234718 108234718 Chr6(GRCh37):g.108234718A>G 453-87 453-87 NM_007214.4:c.453-87T>C p.? p.? 5 4 608648 -87 3' 78.0534 6.16947 0.653437 3.35436 78.0534 6.16947 0.653437 3.35436 0 Cryptic Donor Strongly Activated 108234716 0.007627 61.6261 1.14389 0.012358 65.7541 rs532481588 yes no Frequency 1 A 0.000000 0 0.000355 0.000000 0.001193 0.000000 0.000000 0.000000 0.000666 0.000000 0.000000 0.001193 11 0 1 0 0 0 10 0 0 30968 8730 838 302 1620 0 15004 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition T C T>C 0.126 0.205 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||SEC63|mRNA|CODING|NM_007214|) . . . . . . . 0.3537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000025796 SEC63 SEC63 . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs532481588 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830765 . . . . . . . . . . . . . . . 0 0.0004 0.0012 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200185941 6 109560739 T A - C6orf183 21562 Chromosome 6 open reading frame 183 ENST00000453496.2 1 2469 0 substitution intron GRCh37 109560739 109560739 Chr6(GRCh37):g.109560739T>A 360+16 360+16 ENST00000453496.2:n.360+16T>A p.? p.? 2 2 16 5' 78.2933 4.74439 0.883696 0 78.2933 4.74439 0.883696 0 0 rs200185941 yes no Frequency 1 A 0.000000 0 0.008834 0.008335 0.007415 0.012853 0.001790 0.016093 0.008936 0.004510 0.009091 0.016093 544 80 42 30 8 102 252 15 15 61580 9598 5664 2334 4470 6338 28200 3326 1650 0.000162 0.000417 0.000000 0.000000 0.000000 0.000316 0.000142 0.000000 0.000000 5 2 0 0 0 1 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.7 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . INTRON(MODIFIER||||LOC100996634|mRNA|CODING|NM_001277339|) . . . . . . . -0.3695 . . . . . . . . . . . . 0.0042 0.0053 0 0 0 0.0025 0 0.0073 0 0.0046 0 0 0.0018 0.0029 0 0.0073 . . . . . . downstream intronic intronic . . . @ . . . 0.28 0.35 182 ENSG00000243587 LOC100996634 LOC100996634 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200185941 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527657 . . . . . . 0.0086 0.0091 0.0070 0.0125 0.0024 0.0039 0.0084 0.0102 0.0161 0.0082 0.0085 0.0122 0.0163 0.0006 0.0056 0.0096 0.0074 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200185941 rs200185941 1 1538 10 1/0 0,255,255 +rs140100447 6 109563273 A G - C6orf183 21562 Chromosome 6 open reading frame 183 ENST00000453496.2 1 2469 0 substitution intron GRCh37 109563273 109563273 Chr6(GRCh37):g.109563273A>G 361-109 361-109 ENST00000453496.2:n.361-109A>G p.? p.? 3 2 -109 3' 93.699 XI.68 0.99199 14.1189 93.699 XI.68 0.99199 14.1189 0 Cryptic Donor Strongly Activated 109563273 0.000541 52.2553 4.51798 0.035473 64.3913 rs140100447 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.004500 0.005100 0.000000 0.004000 0.002900 0.006229 0.005269 0.005967 0.013245 0.000000 0.000000 0.008324 0.002005 0.006110 0.013245 193 46 5 4 0 0 125 7 6 30982 8730 838 302 1622 0 15016 3492 982 0.010363 0.021739 0.000000 0.000000 0.000000 0.000000 0.008000 0.000000 0.000000 2 1 0 0 0 0 1 0 0 189 44 5 4 0 0 123 7 6 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition A G A>G 0.000 -0.198 255 PASS 0.01 0.0032 0.0028 . 0.0026 0.0045 0.0034 0.0029 . 0.004 0.0051 . . . . . 0.5675676 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||LOC100996634|mRNA|CODING|NM_001277339|) . . . . . . . 0.1368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intronic intronic . . . 0.0034 . . . 0.37 0.34 182 . LOC100996634 LOC100996634 dist\x3d2680\x3bdist\x3d46370 . . . . . 419 0.00644853 64976 402 0.00670156 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140100447 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527657 . . . . . . . . . . . . . . . 0.0053 0.0062 0.0060 0.0132 0 0.0020 0.0083 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs140100447 rs140100447 1 1538 10 1/0 0,255,255 +rs139751785 6 109627272 C T - CCDC162P 21565 Coiled-coil domain containing 162, pseudogene NR_028595.1 1 715 0 substitution exon GRCh37 109627272 109627272 Chr6(GRCh37):g.109627272C>T 433 433 NR_028595.1:n.433C>T 3 -44 5' 85.464 6.99123 0.918972 3.07946 85.464 6.99123 0.918972 2.47204 0 Cryptic Acceptor Strongly Activated 109627277 5.86654 0.84014 89.0822 7.192 0.89332 92.2037 rs139751785 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.003000 0.004100 0.000000 0.004000 0.002900 0.005606 0.002941 0.003944 0.005135 0.000000 0.007671 0.007654 0.002404 0.004493 0.007671 931 44 97 43 0 173 528 25 21 166074 14962 24592 8374 11538 22552 68984 10398 4674 0.000108 0.000134 0.000081 0.000000 0.000000 0.000266 0.000116 0.000000 0.000000 9 1 1 0 0 3 4 0 0 913 42 95 43 0 167 520 25 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.969 3.434 255 PASS 0.01 0.0027 0.0028 . 0.0026 0.003 0.0028 0.0029 . 0.004 0.0041 . CCDC162P:uc003ptb.1:exon4:c.C440T:p.S147L . . . 0.49425286 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H145Y|CCDC162P|Non-coding_transcript|NON_CODING|NR_028595|NR_028595.ex.3) . . . . . . . 1.1567 . . . . . . . . 5.190e-03 . . . 0.0035 0.0066 0 0 0 0.0065 0 0.0072 0 0.0060 0 0 0.0031 0.0063 0 0.0071 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0028 . . . 0.42 0.64 182 ENSG00000203799 CCDC162P CCDC162P . . . . . . 438 0.00674095 64976 424 0.00706832 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.37 rs139751785 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527719 . . . . . IV.24 0.0022 0.0056 0.0039 0.0050 0 0.0023 0.0075 0.0043 0.0077 0.0034 0.0056 0.0060 0.0099 0 0.0026 0.0081 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139751785 rs139751785 1 1538 10 1/0 0,255,255 +rs41288558 6 109768568 G T - MICAL1 20619 Microtubule associated monooxygenase, calponin and LIM domain containing 1 NM_001286613.1 -1 3681 3261 NP_001273542.1 substitution missense exon GRCh37 109768568 109768568 Chr6(GRCh37):g.109768568G>T 2119 2119 NM_001286613.1:c.2119C>A p.His707Asn p.His707Asn 16 607129 -9 5' 87.2541 7.65636 0.943355 XII.67 87.2541 7.65636 0.943355 12.1576 0 rs41288558 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008900 0.000000 0.006863 0.001083 0.000232 0.000197 0.000000 0.000000 0.007502 0.033913 0.006667 0.033913 1887 26 8 2 0 0 934 874 43 274940 24014 34416 10144 18868 30782 124494 25772 6450 0.000175 0.000000 0.000000 0.000000 0.000000 0.000000 0.000112 0.001319 0.000000 24 0 0 0 0 0 7 17 0 1839 26 8 2 0 0 920 840 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4394 12951 43 12 55 0.005 0.00272356 0.00422882 0.005 0.00272356 0.00422882 64 transversion C A C>A 0.000 0.044 H His CAC 0.587 N Asn AAC 0.536 707 12 9 Horse 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 353.86 0.00 Deleterious 0.04 4.IX 255 PASS . 0.0037 . . 0.01 . 0.0018 . . 0.0089 . . . . . . 0.41836736 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.117 . . 98.0 . . . 0.0027 0.0042 0.005 0.0027 0.0042 0.005 . -0.5390 -0.601 -0.539 c . . . . . 7.498e-03 . . . 0.0014 0.0039 8.657e-05 0 0.0376 0.0045 0.0056 0 0.0013 0.0075 8.922e-05 0 0.0355 0.0101 0.0073 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.488 . . exonic exonic exonic . . 0.199 0.0018 . . . 0.24 0.19 182 ENSG00000135596 MICAL1 MICAL1 . . . 1.000 0.480 . 465 0.00715649 64976 456 0.00760177 59986 Likely_benign . 0 . 0.049 . . . . . . . . . 37 . 0.071 . . 0.387 . . . 0.170 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.121 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.067 . . . . . 0.133 . 0.165 . HET 0.02 rs41288558 . . . . . . . 0.003663003663003663 0.0 0.0 0.0 0.010554089709762533 IV.14 0.002675 ENST00000433205 5.VII I.17 . 0.490000 . . . . 0.004229 . 0.224 . . . 0.0012 0.0067 0.0002 0.0002 0 0.0342 0.0075 0.0049 0 0.0008 0.0081 0 0 0 0.0321 0.0078 0.0163 . . 0.924 . 0.098 0.098000 . . 0.490000 . . 1.0E-255 0.000 0.063 . 0.362 0.007 . 0.192 . 0.551 0.098 0.917 0.01 rs41288558 rs41288558 rs41288558 rs41288558 1 1538 10 1/0 0,255,255 +rs200756021 6 118229057 G A - SLC35F1 21483 Solute carrier family 35, member F1 NM_001029858.3 1 4852 1227 NP_001025029.2 Q5T1Q4 substitution synonymous exon GRCh37 118229057 118229057 Chr6(GRCh37):g.118229057G>A 168 168 NM_001029858.3:c.168G>A p.Leu56= p.Leu56Leu 1 -6 5' 89.8591 9.60237 0.967726 23.156 89.8591 9.60237 0.97082 22.7458 0.00106573 Protein of unknown function DUF914, eukaryotic rs200756021 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.005861 0.000862 0.001173 0.007400 0.000000 0.001037 0.007310 0.016888 0.005126 0.016888 529 10 7 21 0 9 339 132 11 90254 11598 5970 2838 4832 8678 46376 7816 2146 0.000111 0.000000 0.000000 0.000000 0.000000 0.000230 0.000129 0.000256 0.000000 5 0 0 0 0 1 3 1 0 519 10 7 21 0 7 333 130 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 1.000 0.851 L Leu CTG 0.404 L Leu CTA 0.070 56 255 PASS . 0.0041 . . 0.01 . 0.001 . . 0.005 . ENSG00000196376:ENST00000360388:exon1:c.G168A:p.L56L SLC35F1:uc003pxx.4:exon1:c.G168A:p.L56L SLC35F1:NM_001029858:exon1:c.G168A:p.L56L . . 0.46153846 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 13.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L56|SLC35F1|mRNA|CODING|NM_001029858|NM_001029858.ex.1) . . . . . . . I.41 . . . . . . . . 3.536e-03 . . . 0.0014 0.0053 0.0011 0 0.0113 0.0107 0.0164 0.0008 0.0010 0.0061 0.0012 0 0.0178 0.0093 0.0128 0.0008 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.13 0.48 182 ENSG00000196376 SLC35F1 SLC35F1 . . . . . . 329 0.00506341 64976 324 0.00540126 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200756021 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522455 . . . . . III.51 0.0010 0.0062 0.0008 0.0075 0 0.0191 0.0077 0.0060 0.0010 0.0008 0.0052 0.0037 0.0066 0 0.0140 0.0064 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs200756021 rs200756021 1 1538 10 1/0 0,255,255 +rs767260337 6 119670001 C A - MAN1A1 6821 Mannosidase, alpha, class 1A, member 1 NM_005907.3 -1 5027 1962 NP_005898.2 P33908 substitution missense exon GRCh37 119670001 119670001 Chr6(GRCh37):g.119670001C>A 230 230 NM_005907.3:c.230G>T p.Ser77Ile p.Ser77Ile 2 604344 -374 5' 92.583 10.0326 0.993722 13.8301 92.583 10.0326 0.993722 13.8301 0 Cryptic Acceptor Strongly Activated 119669987 6.08149 0.797238 76.2783 9.06351 0.935932 79.3939 rs767260337 yes no Frequency 1 C 0.000000 0 0.000035 0.000000 0.000053 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000065 6 0 1 0 0 0 5 0 0 170752 13722 18738 7578 8506 20020 77144 21042 4002 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.890 -0.279 S Ser AGC 0.243 I Ile ATC 0.481 77 13 6 Zebrafish -2 -2 -4 I.42 0 9.II 5.II 32 111 142 C0 353.86 0.00 Deleterious 0.02 III.56 255 PASS . . . . . . . . . . . . . MAN1A1:NM_005907:exon2:c.G230T:p.S77I . . 0.35955057 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.348 . @ . . . . . 1 0.342 . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aTc|S77I|MAN1A1|mRNA|CODING|NM_005907|NM_005907.ex.2) . . . . . . . -0.5168 -0.401 -0.517 c . . . . . 3.349e-05 . . . 0 9.051e-05 0 0 0 0.0002 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.725 . . exonic exonic exonic . . 0.138 @ . . . . . . ENSG00000111885 MAN1A1 MAN1A1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.231 . . . . D 0.952 0.506 . . 37 . 0.382 . . 0.310 . . . 0.065 0.235 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.051 . . 0 0 0 0 0 0 . 0.112 . . 0.104 . . . . . . 0 0.197 . . . . . 0.164 . 0.223 . HET 0.14 rs767260337 . . . . . . . . . . . . V.67 0.0 . IV.73 0.1 . . . . . . . . 0.474 . . . 0 3.567e-05 5.569e-05 0 0 0 6.429e-05 0 0 0 3.271e-05 0 0 0 0 6.701e-05 0 . . 0.080 . 0.070 0.070000 . . . . . 1.0E-255 0.992 0.373 . 0.199 0.599 . 0.236 . 0.063 0.070 -0.405 . . . . . 1 1538 10 1/0 0,255,255 +. 6 122777624 A C - SERINC1 13464 Serine incorporator 1 NM_020755.3 -1 3202 1362 NP_065806.1 Q9NRX5 substitution splice site GRCh37 122777624 122777624 Chr6(GRCh37):g.122777624A>C 371+2 371+2 NM_020755.3:c.371+2T>G p.? p.? 3 3 614548 2 5' 86.9112 X.85 0.996104 2.49849 0 0 0 0 -1 transversion T G T>G 1.000 5.129 255 PASS . . . . . . . . . . . . . . . . 0.5185185 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.645 . @ . . . . . 0 0.703 . . 54.0 . . . . . . . . . . 1.1679 1.020 1.168 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing splicing splicing . . 0.886 @ . . . . . . ENSG00000111897 SERINC1 SERINC1 ENST00000339697:exon3:c.371+2T>G uc003pyy.1:exon3:c.371+2T>G NM_020755:exon3:c.371+2T>G 1.000 0.747 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . 0.797 . . . HET . . . . . . . . . . . . . . 15.9735 . . 5.VII 5.VII . . . 1.0000 0.928 Name\x3ddgv2006e1 . . 0.963 . . 5.VII . . . . . . . . . . . . . . . . . . . 0.047 . 2.159 2.159000 . . . . . 1.0E-255 1.000 0.715 . 0.362 0.974 . 0.960 . 0.866 2.159 1.062 . . . . . 1 1538 10 1/0 0,255,255 +. 6 124759018 A AT - NKAIN2 16443 Na+/K+ transporting ATPase interacting 2 NM_001040214.2 1 3393 627 NP_001035304.1 Q5VXU1 duplication intron GRCh37 124759037 124759038 Chr6(GRCh37):g.124759037dup 273+82544 273+82544 NM_001040214.2:c.273+82544dup p.? p.? 3 3 609758 82544 5' 87.3006 8.82915 0.883779 0.653249 87.3006 8.82915 0.883779 0.653249 0 rs374033234 yes no Frequency 1 0.000000 0 T 255 Pass . . . . . . . . . . . . . . . . 0.2972973 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . . . . . . . . . . . . . . . . . . . . . 0.0339 0.1205 0.0851 0.0789 0 0.1164 0.0962 0.1355 0.0333 0.1310 0.0833 0.2619 0 0.1255 0.1136 0.1355 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000188580 NKAIN2 NKAIN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374033234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374033234 rs374033234 1 1538 10 1.I 0,10,53 +. 6 128324320 T C - PTPRK 9674 Protein tyrosine phosphatase, receptor type, K NM_001291981.1 -1 6153 4389 NP_001278910.1 substitution intron GRCh37 128324320 128324320 Chr6(GRCh37):g.128324320T>C 2530+22 2530+22 NM_001291981.1:c.2530+22A>G p.? p.? 16 16 602545 22 5' 86.4908 7.64824 0.928685 1.78097 86.4908 7.64824 0.928685 I.86 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 219092 12632 31994 9294 15836 27432 95692 21224 4988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 59 Exomes transition A G A>G 0.803 1.416 255 PASS . . . . . . . . . . . . . . . . 0.6571429 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.8127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000152894 PTPRK PTPRK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.564e-06 0 0 0 0 1.045e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs78650056 6 131571691 C A - AKAP7 377 A kinase (PRKA) anchor protein 7 NM_016377.3 1 2934 1047 NP_057461.2 Q9P0M2 substitution intron GRCh37 131571691 131571691 Chr6(GRCh37):g.131571691C>A 850+30743 850+30743 NM_016377.3:c.850+30743C>A p.? p.? 7 7 604693 30743 5' 82.9985 9.27414 0.983609 2.69839 82.9985 9.27414 0.983609 2.69839 0 rs78650056 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.000848 0.000125 0.000378 0.000000 0.000000 0.000000 0.001565 0.000620 0.000774 0.001565 235 3 13 0 0 0 198 16 5 276960 24034 34396 10142 18864 30776 126498 25790 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 235 3 13 0 0 0 198 16 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4405 12990 15 1 16 0.00174419 0.000226963 0.0012302 0.00174419 0.000226963 0.0012302 145 transversion C A C>A 0.008 0.690 255 PASS . 0.0014 . . 0.004 . 0.0008 . . 0.004 . . . . . . 0.40425533 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . 0.0002 0.0012 0.0017 0.0002 0.0012 0.0017 . 0.7507 . . . . . . . . 7.578e-04 . . . 0.0003 0.0008 0.0003 0 0.0005 0.0014 0 0 0.0003 0.0006 0.0004 0 0.0003 0.0011 0 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0008 . . . 0.59 0.67 182 ENSG00000118507 AKAP7 AKAP7 . . . . . . 62 0.000954198 64976 58 0.000966892 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78650056 . . . . . . . . . . . . . . . . . . . . . . . 0.001230 . . . . II.99 0.0002 0.0008 0.0004 0 0 0.0006 0.0016 0.0007 0 0 0.0009 0.0012 0 0 0.0009 0.0015 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs78650056 rs78650056 1 1538 10 1/0 0,255,255 +. 6 132030242 G A - CTAGE9 37275 CTAGE family, member 9 NM_001145659.1 -1 2577 2334 NP_001139131.1 A4FU28 substitution missense exon GRCh37 132030242 132030242 Chr6(GRCh37):g.132030242G>A 1916 1916 NM_001145659.1:c.1916C>T p.Pro639Leu p.Pro639Leu 1 transition C T C>T 0.000 -14.080 P Pro CCA 0.274 L Leu CTA 0.070 639 22 13 Grenn anole -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0 III.50 unknown 0.0 0.0 180 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.C1916T:p.P639L CTAGE9:uc011ece.2:exon1:c.C1916T:p.P639L CTAGE9:NM_001145659:exon1:c.C1916T:p.P639L . . 0.11409396 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.436 . @ . . . . . 1 0.302 . . 149.0 . . . . . . . . . . 0.2192 -0.032 0.219 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . . @ . . . . . . ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.266 0.010 . . 37 . 0.508 . . 0.322 . . . 0.803 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.880 . . 0 0 0 0 0 0 . 0.764 . . 0.703 . . . . . . 2 0.477 . . . . . . . 0.056 . LowAF 0.05 . . . . . . . . . . . . . . . ENST00000314099 . . . 0.020000 A4FU28 . . . . . 0.153 . . . . . . . . . . . . . . . . . . . . . . 0.428 . . . . . 0.020000 . . 1.0E-180 1.000 0.715 . . . . 0.399 . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 6 132030242 G A - ENPP3 3358 Ectonucleotide pyrophosphatase/phosphodiesterase 3 NM_005021.4 1 3232 2628 NP_005012.2 O14638 substitution intron GRCh37 132030242 132030242 Chr6(GRCh37):g.132030242G>A 1413-9570 1413-9570 NM_005021.4:c.1413-9570G>A p.? p.? 16 15 602182 -9570 3' 93.8233 9.85716 0.997057 4.82691 93.8233 9.85716 0.997057 4.82691 0 New Acceptor Site 132030244 4.03889 0.033899 68.6731 transition G A G>A 0.000 -14.080 180 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.C1916T:p.P639L CTAGE9:uc011ece.2:exon1:c.C1916T:p.P639L CTAGE9:NM_001145659:exon1:c.C1916T:p.P639L . . 0.11409396 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.436 . @ . . . . . 1 0.302 . . 149.0 . . . . . . . . . . 0.2192 -0.032 0.219 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . . @ . . . . . . ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.266 0.010 . . 37 . 0.508 . . 0.322 . . . 0.803 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.880 . . 0 0 0 0 0 0 . 0.764 . . 0.703 . . . . . . 2 0.477 . . . . . . . 0.056 . LowAF 0.05 . . . . . . . . . . . . . . . ENST00000314099 . . . 0.020000 A4FU28 . . . . . 0.153 . . . . . . . . . . . . . . . . . . . . . . 0.428 . . . . . 0.020000 . . 1.0E-180 1.000 0.715 . . . . 0.399 . . . . . . . . . 1 1538 10 1/0 0,210,255 +rs2072311 6 132031695 C G - CTAGE9 37275 CTAGE family, member 9 NM_001145659.1 -1 2577 2334 NP_001139131.1 A4FU28 substitution missense exon GRCh37 132031695 132031695 Chr6(GRCh37):g.132031695C>G 463 463 NM_001145659.1:c.463G>C p.Glu155Gln p.Glu155Gln 1 rs2072311 no no 0 C 0.000000 0 transversion G C G>C 0.000 -14.080 E Glu GAA 0.417 Q Gln CAA 0.256 155 22 15 Grenn anole 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Tolerated 0.27 3.X good 4.683E-1 0.001781 195 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.G463C:p.E155Q CTAGE9:uc011ece.2:exon1:c.G463C:p.E155Q CTAGE9:NM_001145659:exon1:c.G463C:p.E155Q . . 0.14864865 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.296 . . 74.0 . . . . . . . . . . 0.1404 -0.099 0.140 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.340 . . exonic exonic exonic . . . @ . . . 0.36 0.15 182 ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.380 0.017 . . 37 . 0.433 . . 0.132 . . . 0.636 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.350 . . 0 0 0 0 0 0 . 0.689 . . 0.732 . . . . . . 2 0.298 . . . . . . . 0.129 . LowAF 0.09 . . . . . . . . . . . . . . . ENST00000314099 . . . 0.140000 A4FU28 . . . . . 0.141 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.140000 . . 9.999999999999999E-196 0.997 0.399 . . 0.948 . 0.220 . . . 0.537 . rs2072311 rs2072311 rs2072311 rs2072311 1 1538 10 1/0 0,244,255 +rs2072311 6 132031695 C G - ENPP3 3358 Ectonucleotide pyrophosphatase/phosphodiesterase 3 NM_005021.4 1 3232 2628 NP_005012.2 O14638 substitution intron GRCh37 132031695 132031695 Chr6(GRCh37):g.132031695C>G 1413-8117 1413-8117 NM_005021.4:c.1413-8117C>G p.? p.? 16 15 602182 -8117 3' 93.8233 9.85716 0.997057 4.82691 93.8233 9.85716 0.997057 4.82691 0 rs2072311 no no 0 C 0.000000 0 transversion C G C>G 0.000 -14.080 195 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.G463C:p.E155Q CTAGE9:uc011ece.2:exon1:c.G463C:p.E155Q CTAGE9:NM_001145659:exon1:c.G463C:p.E155Q . . 0.14864865 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.296 . . 74.0 . . . . . . . . . . 0.1404 -0.099 0.140 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.340 . . exonic exonic exonic . . . @ . . . 0.36 0.15 182 ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.380 0.017 . . 37 . 0.433 . . 0.132 . . . 0.636 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.350 . . 0 0 0 0 0 0 . 0.689 . . 0.732 . . . . . . 2 0.298 . . . . . . . 0.129 . LowAF 0.09 . . . . . . . . . . . . . . . ENST00000314099 . . . 0.140000 A4FU28 . . . . . 0.141 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.140000 . . 9.999999999999999E-196 0.997 0.399 . . 0.948 . 0.220 . . . 0.537 . rs2072311 rs2072311 rs2072311 rs2072311 1 1538 10 1/0 0,244,255 +rs4126643 6 132032100 C G - CTAGE9 37275 CTAGE family, member 9 NM_001145659.1 -1 2577 2334 NP_001139131.1 A4FU28 substitution missense exon GRCh37 132032100 132032100 Chr6(GRCh37):g.132032100C>G 58 58 NM_001145659.1:c.58G>C p.Gly20Arg p.Gly20Arg 1 rs4126643 yes no Frequency 1 0.000000 0 0.000186 0.001993 0.000569 0.000000 0.000063 0.000071 0.000008 0.000000 0.000000 0.001993 46 26 16 0 1 2 1 0 0 246798 13044 28108 9740 15804 28308 120630 25136 6028 0.000162 0.001687 0.000569 0.000000 0.000000 0.000071 0.000000 0.000000 0.000000 20 11 8 0 0 1 0 0 0 6 4 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 -0.440 G Gly GGC 0.342 R Arg CGC 0.190 20 22 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.54 3.X good 9.665E-1 0.4396 178 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.G58C:p.G20R CTAGE9:uc011ece.2:exon1:c.G58C:p.G20R CTAGE9:NM_001145659:exon1:c.G58C:p.G20R . . 0.11111111 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.032 . . 45.0 . . . . . . . . . . -1.5302 -1.503 -1.530 c . . . . . 1.522e-04 . . . 0 2.063e-05 0 0.0003 0 0 0 0 0 1.758e-05 0 0.0003 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . . @ . . . 0.4 0.21 182 ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.080 0.003 . . 37 . 0.014 . . 0.431 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . . . 0.157 . LowAF 0.74 rs200148936 0.033 0.036 . . . . . . . . . . . . ENST00000314099 . . . 1.000000 A4FU28 . . . . . 0.027 . . . 0.0028 0.0002 0.0006 0 6.944e-05 0 9.414e-06 0 7.065e-05 0.0008 0.0002 0 0 0 0 0 0 . . 0.246 . -0.414 -0.414000 . . 1.000000 . . 1.0E-178 0.985 0.357 . . . . 0.035 . . -0.414 . 0.033 rs4126643 rs4126643 rs4126643 rs200148936 1 1538 10 1/0 0,255,255 +rs4126643 6 132032100 C G - ENPP3 3358 Ectonucleotide pyrophosphatase/phosphodiesterase 3 NM_005021.4 1 3232 2628 NP_005012.2 O14638 substitution intron GRCh37 132032100 132032100 Chr6(GRCh37):g.132032100C>G 1413-7712 1413-7712 NM_005021.4:c.1413-7712C>G p.? p.? 16 15 602182 -7712 3' 93.8233 9.85716 0.997057 4.82691 93.8233 9.85716 0.997057 4.82691 0 rs4126643 yes no Frequency 1 0.000000 0 0.000186 0.001993 0.000569 0.000000 0.000063 0.000071 0.000008 0.000000 0.000000 0.001993 46 26 16 0 1 2 1 0 0 246798 13044 28108 9740 15804 28308 120630 25136 6028 0.000162 0.001687 0.000569 0.000000 0.000000 0.000071 0.000000 0.000000 0.000000 20 11 8 0 0 1 0 0 0 6 4 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.008 -0.440 178 PASS . . . . . . . . . . . ENSG00000236761:ENST00000314099:exon1:c.G58C:p.G20R CTAGE9:uc011ece.2:exon1:c.G58C:p.G20R CTAGE9:NM_001145659:exon1:c.G58C:p.G20R . . 0.11111111 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.032 . . 45.0 . . . . . . . . . . -1.5302 -1.503 -1.530 c . . . . . 1.522e-04 . . . 0 2.063e-05 0 0.0003 0 0 0 0 0 1.758e-05 0 0.0003 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . . @ . . . 0.4 0.21 182 ENSG00000236761 CTAGE9 CTAGE9 . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.080 0.003 . . 37 . 0.014 . . 0.431 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . . . 0.157 . LowAF 0.74 rs200148936 0.033 0.036 . . . . . . . . . . . . ENST00000314099 . . . 1.000000 A4FU28 . . . . . 0.027 . . . 0.0028 0.0002 0.0006 0 6.944e-05 0 9.414e-06 0 7.065e-05 0.0008 0.0002 0 0 0 0 0 0 . . 0.246 . -0.414 -0.414000 . . 1.000000 . . 1.0E-178 0.985 0.357 . . . . 0.035 . . -0.414 . 0.033 rs4126643 rs4126643 rs4126643 rs200148936 1 1538 10 1/0 0,255,255 +rs371770744 6 132181486 A G - ENPP1 3356 Ectonucleotide pyrophosphatase/phosphodiesterase 1 NM_006208.2 1 7442 2778 NP_006199.2 P22413 substitution intron GRCh37 132181486 132181486 Chr6(GRCh37):g.132181486A>G 796-41 796-41 NM_006208.2:c.796-41A>G p.? p.? 8 7 173335 -41 3' 92.0091 XI.47 0.979896 7.20444 92.0091 XI.47 0.979896 7.31515 0 Cryptic Donor Strongly Activated 132181486 0.111914 65.8058 5.88318 0.991603 77.9418 132181486 -67.4813 rs371770744 yes no Frequency 1 A 0.000000 0 0.000041 0.000000 0.000030 0.000000 0.000000 0.000000 0.000083 0.000000 0.000000 0.000083 11 0 1 0 0 0 10 0 0 266408 23292 33630 9764 18448 28746 120872 25396 6260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4396 12969 1 0 1 0.000116632 0 7.7101e-05 0.000116632 0 7.7101e-05 32 transition A G A>G 0.008 0.125 255 PASS . . . . . . . . . . . . . . . . 0.53333336 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . INTRON(MODIFIER||||ENPP1|mRNA|CODING|NM_006208|) . 0.0001 0.0001 . 0.0001 0.0001 . -0.0231 . . . . . . . . 3.949e-05 . . . 0 6.125e-05 0 0 0 0.0001 0 0 0 3.222e-05 0 0 0 6.555e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.16 182 ENSG00000197594 ENPP1 ENPP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371770744 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 3.823e-05 3.05e-05 0 0 0 7.557e-05 0 0 0 6.458e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs371770744 rs371770744 1 1538 10 1/0 0,255,255 +rs61729591 6 134210598 C G - TARID 50506 TCF21 antisense RNA inducing promoter demethylation NR_109982.1 -1 2984 0 substitution upstream GRCh37 134210598 134210598 Chr6(GRCh37):g.134210598C>G -454 -454 NR_109982.1:n.-454G>C p.? p.? 1 616058 -857 5' 87.5573 9.72159 0.993106 2.42219 87.5573 9.72159 0.993106 2.42219 0 rs61729591 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 0.003195 0.000800 0.001000 0.000000 0.007000 0.010100 0.005906 0.001706 0.002702 0.003546 0.000318 0.002924 0.009582 0.004109 0.007895 0.009582 1637 41 93 36 6 90 1214 106 51 277194 24028 34420 10152 18866 30782 126692 25794 6460 0.000072 0.000000 0.000000 0.000000 0.000000 0.000065 0.000111 0.000078 0.000310 10 0 0 0 0 1 7 1 1 1617 41 93 36 6 88 1200 104 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4397 12930 67 9 76 0.0077907 0.00204267 0.00584346 0.0077907 0.00204267 0.00584346 100 RCV000154188.3 germline literature only VUS 0 not provided transversion G C G>C 0.992 0.125 255 PASS 0.002 0.01 0.02 . 0.01 0.0008 0.0032 0.01 . 0.007 0.001 . . . . . 0.47297296 . . germline 70 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.133 . Uncertain//\@significance Uncertain_significance RCV000154188.3 not_provided MedGen CN221809 1 0.190 . . 148.0 . . . 0.002 0.0058 0.0078 0.002 0.0058 0.0078 . -1.0153 -0.942 -1.015 c . . . . . 5.738e-03 . . . 0.0016 0.0049 0.0035 0.0005 0.0026 0.0077 0.0042 0.0030 0.0018 0.0053 0.0032 0.0003 0.0029 0.0082 0.0014 0.0030 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.962 . . exonic exonic exonic . . 0.165 0.0032 . . . 0.54 0.21 182 ENSG00000118526 TCF21 TCF21 . . . 1.000 0.473 . 498 0.00766437 64976 482 0.00803521 59986 Likely_benign . 0 . 0.429 . . . . . . . . . 37 . 0.810 . . 0.716 . . . 0.145 0.432 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.146 . . 0 0 0 0 1 0 . 0.261 . . 0.208 . . . . . . 0 0.110 . . . . . 0.093 . 0.120 . HET 0.42 rs61729591 . . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000154188.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000154188.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . 0.00641025641025641 0.0020325203252032522 0.016574585635359115 0.0 0.009234828496042216 4.084 0.00214 . IV.43 0.582 . 0.740000 O43680 . . Name\x3desv34122 0.005843 . 0.257 . . . 0.0013 0.0059 0.0027 0.0037 0.0003 0.0040 0.0096 0.0082 0.0029 0.0024 0.0060 0.0036 0 0 0.0046 0.0093 0.0061 . . 0.062 . -0.226 -0.226000 . . 0.740000 . . 1.0E-255 0.191 0.240 . 0.390 0.949 . 0.072 . 0.130 -0.226 0.871 0.02 rs61729591 rs61729591 rs61729591 rs61729591 1 1538 10 1/0 0,239,255 +rs61729591 6 134210598 C G - TCF21 11632 Transcription factor 21 NM_198392.2 1 3208 540 NP_938206.1 O43680 substitution missense exon GRCh37 134210598 134210598 Chr6(GRCh37):g.134210598C>G 63 63 NM_198392.2:c.63C>G p.Asp21Glu p.Asp21Glu 1 603306 -388 5' 87.1266 10.0978 0.989695 11.834 87.1266 10.0978 0.989695 11.834 0 Cryptic Donor Strongly Activated 134210593 1.63034 0.002795 65.0012 4.51166 0.063933 77.6972 rs61729591 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 0.003195 0.000800 0.001000 0.000000 0.007000 0.010100 0.005906 0.001706 0.002702 0.003546 0.000318 0.002924 0.009582 0.004109 0.007895 0.009582 1637 41 93 36 6 90 1214 106 51 277194 24028 34420 10152 18866 30782 126692 25794 6460 0.000072 0.000000 0.000000 0.000000 0.000000 0.000065 0.000111 0.000078 0.000310 10 0 0 0 0 1 7 1 1 1617 41 93 36 6 88 1200 104 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8533 4397 12930 67 9 76 0.0077907 0.00204267 0.00584346 0.0077907 0.00204267 0.00584346 100 RCV000154188.3 germline literature only VUS 0 not provided HM050001 Sensorineural hearing loss DM? transversion C G C>G 0.992 0.125 D Asp GAC 0.539 E Glu GAG 0.583 21 11 11 Frog 2 2 2 I.38 0.92 13 12.III 54 83 45 C35 0.00 44.60 Deleterious 0 IV.32 bad 8.121E-5 0.0001552 255 PASS 0.002 0.01 0.02 . 0.01 0.0008 0.0032 0.01 . 0.007 0.001 . . . . . 0.47297296 . . germline 70 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.133 . Uncertain//\@significance Uncertain_significance RCV000154188.3 not_provided MedGen CN221809 1 0.190 . . 148.0 . . . 0.002 0.0058 0.0078 0.002 0.0058 0.0078 . -1.0153 -0.942 -1.015 c . . . . . 5.738e-03 . . . 0.0016 0.0049 0.0035 0.0005 0.0026 0.0077 0.0042 0.0030 0.0018 0.0053 0.0032 0.0003 0.0029 0.0082 0.0014 0.0030 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.962 . . exonic exonic exonic . . 0.165 0.0032 . . . 0.54 0.21 182 ENSG00000118526 TCF21 TCF21 . . . 1.000 0.473 . 498 0.00766437 64976 482 0.00803521 59986 Likely_benign . 0 . 0.429 . . . . . . . . . 37 . 0.810 . . 0.716 . . . 0.145 0.432 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.146 . . 0 0 0 0 1 0 . 0.261 . . 0.208 . . . . . . 0 0.110 . . . . . 0.093 . 0.120 . HET 0.42 rs61729591 . . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000154188.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000154188.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . 0.00641025641025641 0.0020325203252032522 0.016574585635359115 0.0 0.009234828496042216 4.084 0.00214 . IV.43 0.582 . 0.740000 O43680 . . Name\x3desv34122 0.005843 . 0.257 . . . 0.0013 0.0059 0.0027 0.0037 0.0003 0.0040 0.0096 0.0082 0.0029 0.0024 0.0060 0.0036 0 0 0.0046 0.0093 0.0061 . . 0.062 . -0.226 -0.226000 . . 0.740000 . . 1.0E-255 0.191 0.240 . 0.390 0.949 . 0.072 . 0.130 -0.226 0.871 0.02 rs61729591 rs61729591 rs61729591 rs61729591 1 1538 10 1/0 0,239,255 +. 6 139113870 T TAACT - CCDC28A 21098 Coiled-coil domain containing 28A NM_015439.2 1 1496 825 NP_056254.1 Q8IWP9 duplication intron GRCh37 139113874 139113875 Chr6(GRCh37):g.139113871_139113874dup 771-15 771-12 NM_015439.2:c.771-15_771-12dup p.? p.? 6 5 615353 -11 3' 74.5904 3.28871 0.041016 0 74.5904 II.43 0.003325 0 -0.413183 rs139961983 yes no Frequency/1000G 2 0.000000 0 0.123203 0.037100 0.080800 0.173600 0.195800 0.168600 0.167807 0.050639 0.193653 0.219976 0.193761 0.108979 0.193204 0.143351 0.180634 0.219976 45534 1205 6597 2209 3621 3311 24120 3320 1151 271348 23796 34066 10042 18688 30382 124842 23160 6372 0.029755 0.002774 0.035226 0.048994 0.036601 0.015009 0.036078 0.018912 0.036723 4037 33 600 246 342 228 2252 219 117 37460 1139 5397 1717 2937 2855 19616 2882 917 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6629 4054 10683 1621 210 1831 0.196485 0.0492495 0.146316 0.196485 0.0492495 0.146316 47 AACT 255 Pass . . . . . . . . . . . . . . . . 0.34375 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000024862 CCDC28A CCDC28A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs3830932 rs3830932 1 1538 10 1.I 0,11,46 +. 6 142491463 C CG - VTA1 20954 Vesicle (multivesicular body) trafficking 1 NM_016485.4 1 3355 924 NP_057569.2 Q9NP79 duplication intron GRCh37 142491464 142491465 Chr6(GRCh37):g.142491464dup 336-19 336-19 NM_016485.4:c.336-19dup p.? p.? 4 3 610902 -18 3' 93.7506 XII.87 0.980729 9.81524 93.7506 X.74 0.974364 7.01069 -0.03821 rs11446143 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999967 0.999958 0.999970 1.000000 1.000000 0.999966 0.999968 0.999959 0.999842 1.000000 270627 23827 33165 10020 18528 29011 125282 24455 6339 270636 23828 33166 10020 18528 29012 125286 24456 6340 0.999933 0.999916 0.999940 1.000000 1.000000 0.999931 0.999936 0.999918 0.999685 135309 11913 16582 5010 9264 14505 62639 12227 3169 2 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 1 3 4 8244 4261 12505 0.000121286 0.000703565 0.00031977 0.999879 0.999296 0.99968 103 G 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.8888889 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 18 . . . 1. 1. 1. 1. 1. 1. . . . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 1.0000 1 0.9999 1 1.0000 1 1 1 1.0000 1 0.9999 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000009844 VTA1 VTA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11446143 0.174 0.210 . . . . . . . . . . . . . . . . . . . . . 0.999920 . . . . . 1 1.0000 1.0000 1 1 1.0000 1.0000 0.9998 1.0000 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs72556186 rs11446143 rs11446143 1 1538 10 1.I 0,5,5 +rs12210406 6 144098424 C T - PHACTR2 20956 Phosphatase and actin regulator 2 NM_001100164.1 1 9633 1938 NP_001093634.1 substitution intron GRCh37 144098424 144098424 Chr6(GRCh37):g.144098424C>T 1590-41 1590-41 NM_001100164.1:c.1590-41C>T p.? p.? 9 8 608724 -41 3' 87.6254 7.29186 0.973643 8.13556 87.6254 7.29186 0.973643 7.92574 0 rs12210406 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.004083 0.000351 0.000882 0.000124 0.000000 0.000630 0.005860 0.010112 0.003305 0.010112 981 8 22 1 0 15 669 248 18 240246 22794 24930 8064 16508 23816 114162 24526 5446 0.000042 0.000000 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 5 0 0 0 0 0 5 0 0 971 8 22 1 0 15 659 248 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8109 3633 11742 43 3 46 0.00527478 0.000825083 0.00390227 0.00527478 0.000825083 0.00390227 54 transition C T C>T 0.000 -1.167 250 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.3181818 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . 0.0008 0.0039 0.0053 0.0008 0.0039 0.0053 . 0.1788 . . . . . . . . 3.883e-03 . . . 0.0005 0.0032 0.0007 0 0.0085 0.0053 0.0030 0.0007 0.0006 0.0037 0.0007 0 0.0090 0.0056 0.0015 0.0007 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.49 0.11 182 ENSG00000112419 PHACTR2 PHACTR2 . . . . . . 262 0.00403226 64976 259 0.00431767 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12210406 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv5513 0.003902 . . . . . 0.0004 0.0038 0.0009 0.0001 0 0.0104 0.0053 0.0025 0.0006 0.0002 0.0059 0 0 0 0.0086 0.0095 0.0071 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.0053 rs12210406 rs12210406 rs12210406 rs12210406 1 1538 10 1/0 0,255,255 +rs371948336 6 144898362 T G - UTRN 12635 Utrophin NM_007124.2 1 12431 10302 NP_009055.2 P46939 substitution missense exon GRCh37 144898362 144898362 Chr6(GRCh37):g.144898362T>G 7417 7417 NM_007124.2:c.7417T>G p.Ser2473Ala p.Ser2473Ala 50 128240 -63 5' 100 X.83 0.998156 X.36 100 X.83 0.998156 X.11 0 Spectrin repeat Spectrin/alpha-actinin Dystrophin/utrophin rs371948336 yes no Frequency 1 T 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000040 0.000000 0.000000 0.000040 5 0 0 0 0 0 5 0 0 276810 24024 34370 10136 18820 30780 126434 25788 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 122 transversion T G T>G 0.984 0.044 S Ser TCT 0.185 A Ala GCT 0.263 2473 14 11 Tetraodon 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 243.48 0.00 Tolerated 0.94 III.40 good 2,41E-01 1 255 PASS . . . . . . . . . . . ENSG00000152818:ENST00000367545:exon50:c.T7417G:p.S2473A UTRN:uc003qkt.3:exon50:c.T7417G:p.S2473A UTRN:NM_007124:exon50:c.T7417G:p.S2473A . . 0.47142857 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.196 . @ . . . . . 1 0.251 . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Gct|S2473A|UTRN|mRNA|CODING|NM_007124|NM_007124.ex.50) . 0.0001 0.0001 . 0.0001 0.0001 . -0.6369 -0.476 -0.637 c . . . . . 7.893e-06 . . . 0 1.105e-05 0 0 0 2.376e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.488 . . exonic exonic exonic . . 0.145 @ . . . 0.64 0.27 182 ENSG00000152818 UTRN UTRN . . . 0.909 0.263 . . . . . . . Uncertain_significance . 0 . 0.250 . . . . T 0.124 0.005 . . 37 . 0.178 . . 0.058 . . . 0.165 0.231 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.067 . . 0.127 . . . . . . 0 0.068 . . . . . 0.877 . 0.049 . HET 0.28 rs371948336 . . . . . . . . . . . . 17.5413 0.0 ENST00000367545 6.III 0.22 . 0.110000 P46939 . . . 0.000077 . 0.499 . . . 0 1.22e-05 0 0 0 0 2.692e-05 0 0 0 6.46e-05 0 0 0 0 0.0001 0 . . 0.609 . 0.134 0.134000 . . 0.110000 . . 1.0E-255 1.000 0.715 . 0.529 0.993 . 0.446 . 0.211 0.134 -0.013 0.0001 . . rs371948336 rs371948336 1 1538 10 1/0 0,255,255 +rs779882086 6 146870693 A G - RAB32 9772 RAB32, member RAS oncogene family NM_006834.4 1 1209 678 NP_006825.1 Q13637 substitution missense exon GRCh37 146870693 146870693 Chr6(GRCh37):g.146870693A>G 344 344 NM_006834.4:c.344A>G p.Glu115Gly p.Glu115Gly 2 612906 94 3' 81.6904 8.16865 0.827121 6.202 81.6904 8.16865 0.827121 6.202 0 Cryptic Acceptor Strongly Activated 146870699 0.000329 0.746186 0.000473 67.8211 Small GTP-binding protein domain Small GTPase superfamily Mitochondrial Rho-like Small GTPase superfamily, ARF/SAR type rs779882086 yes no Frequency 1 A 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000045 0.000000 0.000045 3 0 0 0 0 0 2 1 0 246254 15304 33582 9850 17248 30782 111706 22298 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 PASS 62 Exomes transition A G A>G 1.000 5.048 E Glu GAG 0.583 G Gly GGG 0.250 115 13 10 Baker's yeast -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C15 44.60 75.33 Deleterious 0.01 III.16 255 PASS . . . . . . . . . . . ENSG00000118508:ENST00000367495:exon2:c.A344G:p.E115G RAB32:uc003qln.1:exon2:c.A344G:p.E115G RAB32:NM_006834:exon2:c.A344G:p.E115G . . 0.45679012 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.673 . @ . . . . . 1 0.973 . . 81.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E115G|RAB32|mRNA|CODING|NM_006834|NM_006834.ex.2) . . . . . . . 0.7748 0.778 0.775 c . . . . . 1.578e-05 . . . 0 2.204e-05 0 0 0 4.746e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.787 . . exonic exonic exonic . . 0.886 @ . . . . . . ENSG00000118508 RAB32 RAB32 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.722 0.075 . . 37 . 0.817 . . 0.843 . . . 0.728 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.789 . . 0 0 0 0 0 0 . 0.528 . . 0.597 . . . . . . 0 0.632 . . . . . 0.797 . 0.537 . HET 0 rs779882086 . . . . . . . . . . . . 15.9644 . ENST00000367495 5.VII 5.VII . 0.010000 Q13637 . . . . . 0.699 . . 5.VII 0 1.218e-05 0 0 0 4.485e-05 1.79e-05 0 0 . . . . . . . . . . 0.730 . 2.170 2.170000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.604 0.995 . 0.927 . 0.893 2.170 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs549392717 6 147660296 G A - STXBP5 19665 Syntaxin binding protein 5 (tomosyn) NM_001127715.2 1 9352 3456 NP_001121187.1 Q5T5C0 substitution intron GRCh37 147660296 147660296 Chr6(GRCh37):g.147660296G>A 2147-19 2147-19 NM_001127715.2:c.2147-19G>A p.? p.? 20 19 604586 -19 3' 85.4001 8.25367 0.900797 4.57995 85.4001 7.89772 0.90328 4.61301 -0.0134564 rs549392717 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000256 0.000000 0.000000 0.000000 0.000096 0.000055 0.000460 0.000452 0.000000 0.000460 42 0 0 0 1 1 31 9 0 164282 15570 20280 8112 10390 18236 67408 19890 4396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 0 0 0 1 1 31 9 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.992 0.367 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.45454547 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . 1.0830 . . . . . . . . 1.110e-04 . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000164506 STXBP5 STXBP5 . . . . . . 16 0.000246245 64976 15 0.000250058 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs549392717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.31 0 0.0002 0 0 0.0001 0.0004 0.0002 0 5.484e-05 0 0.0006 0 0 0 0.0006 0.0012 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs55873689 6 147674450 A G - STXBP5 19665 Syntaxin binding protein 5 (tomosyn) NM_001127715.2 1 9352 3456 NP_001121187.1 Q5T5C0 substitution intron GRCh37 147674450 147674450 Chr6(GRCh37):g.147674450A>G 2255-9 2255-9 NM_001127715.2:c.2255-9A>G p.? p.? 22 21 604586 -9 3' 93.4136 7.86709 0.79224 0 93.4136 7.92579 0.775905 0 -0.00438582 rs55873689 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.012900 0.000000 0.005168 0.001575 0.001383 0.000109 0.000000 0.001758 0.008682 0.005482 0.004508 0.008682 1301 35 41 1 0 45 1015 138 26 251758 22222 29652 9142 17298 25602 116902 25172 5768 0.000079 0.000000 0.000067 0.000000 0.000000 0.000000 0.000154 0.000000 0.000000 10 0 1 0 0 0 9 0 0 1281 35 39 1 0 45 997 138 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8432 4338 12770 68 6 74 0.008 0.00138122 0.00576145 0.008 0.00138122 0.00576145 17 transition A G A>G 1.000 0.448 255 PASS . 0.0037 . . 0.01 . 0.0026 . . 0.013 . . . . . . 0.6875 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . 0.0014 0.0058 0.008 0.0014 0.0058 0.008 . I.52 . . . . . . . . 4.842e-03 . . . 0.0019 0.0054 0.0020 0 0.0079 0.0096 0 0.0017 0.0017 0.0070 0.0020 0 0.0061 0.0132 0 0.0017 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.6 0.54 182 ENSG00000164506 STXBP5 STXBP5 . . . . . . 445 0.00684868 64976 433 0.00721835 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55873689 0.011 0.058 . . . . . . . . . . . . . . . . . . 0.0054 0.064 . 0.005761 . . . . 3.II 0.0014 0.0051 0.0014 0.0001 0 0.0053 0.0086 0.0048 0.0018 0.0018 0.0059 0 0 0 0.0063 0.0094 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs55873689 rs55873689 rs55873689 rs55873689 1 1538 10 1/0 0,255,255 +rs573842020 6 150285083 C A - ULBP1 14893 UL16 binding protein 1 NM_025218.3 1 3178 735 NP_079494.1 Q9BZM6 substitution upstream GRCh37 150285083 150285083 Chr6(GRCh37):g.150285083C>A -103 -103 NM_025218.3:c.-103C>A p.? p.? 1 605697 -188 5' 82.5954 11.1124 0.962521 9.63793 82.5954 11.1124 0.962521 9.63793 0 rs573842020 yes no Frequency 1 C 0.000000 0 0.000162 0.000230 0.000000 0.000000 0.000000 0.000000 0.000200 0.000000 0.000000 0.000230 5 2 0 0 0 0 3 0 0 30924 8704 838 300 1622 0 14988 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C A C>A 0.016 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.46153846 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 65.0 . . . . . . . . . . 0.6863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000111981 ULBP1 ULBP1 . . . . . . 12 0.000184684 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs573842020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs9397509 6 152784621 T C - SYNE1 17089 Spectrin repeat containing nuclear envelope protein 1 NM_182961.3 -1 27748 26394 NP_892006.3 Q8NF91 substitution missense exon GRCh37 152784621 152784621 Chr6(GRCh37):g.152784621T>C 1964 1964 NM_182961.3:c.1964A>G p.Gln655Arg p.Gln655Arg 19 608441 32 3' 86.8788 7.63002 0.313873 3.04729 86.8788 7.63002 0.313873 3.21678 0 Cryptic Acceptor Strongly Activated 152784616 0.180866 0.01256 1.06083 0.012703 72.5322 Peptidase C2, calpain, large subunit, domain III ABC transporter type 1, transmembrane domain rs9397509 yes no Frequency/HapMap/1000G 3 T uncertain_significance,likely_benign 0.000000 0 0.003994 0.000800 0.000000 0.000000 0.011900 0.010100 0.006362 0.001457 0.004603 0.017068 0.000000 0.000032 0.007909 0.013041 0.009001 0.017068 1759 35 158 173 0 1 998 336 58 276488 24024 34326 10136 18846 30770 126178 25764 6444 0.000080 0.000000 0.000058 0.000000 0.000000 0.000000 0.000079 0.000233 0.000621 11 0 1 0 0 0 5 3 2 1737 35 156 173 0 1 988 330 54 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4400 12931 69 6 75 0.00802326 0.00136178 0.00576657 0.00802326 0.00136178 0.00576657 61 RCV000445089.1|RCV000361444.1|RCV000263930.1|RCV000118457.5 germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Likely benign|Likely benign|Likely benign|Benign 1|1|1|2 not provided|Cerebellar ataxia|Emery-Dreifuss muscular dystrophy|not specified transition A G A>G 1.000 4.725 Q Gln CAG 0.744 R Arg CGG 0.207 655 12 9 C. elegans 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 353.86 0.00 Deleterious 0.01 III.22 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.004 0.01 . 0.012 . . . . . . 0.39534885 . . germline 17 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.606 . Uncertain//\@significance//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Likely//\@benign//\%//\@Likely//\@benign Uncertain_significance|other|Likely_benign|Likely_benign RCV000077790.3|RCV000118457.3|RCV000263930.1|RCV000361444.1 Intellectual_functioning_disability|not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia MedGen:SNOMED_CT:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|. C0025362:228156007:91138005|CN169374|C0410189:ORPHA261:111508004|. 1 0.920 . . 43.0 . . . 0.0014 0.0058 0.008 0.0014 0.0058 0.008 . 0.5873 0.630 0.587 c . . . . . 6.276e-03 . . . 0.0014 0.0057 0.0067 0 0.0125 0.0088 0.0085 6.189e-05 0.0016 0.0062 0.0069 0 0.0139 0.0086 0.0058 6.225e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.346 . . exonic exonic exonic . . 0.836 0.0040 . . . 0.53 0.69 182 ENSG00000131018 SYNE1 SYNE1 . . . 1.000 0.747 . 557 0.0085724 64976 537 0.00895209 59986 Uncertain_significance . 0 . 0.559 . . . . . . . . . 37 . 0.375 . . 0.092 . . . 0.622 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.608 . . 0 0 0 0 1 0 . 0.715 . . 0.671 . . . . . . 0 0.632 . . . . . 0.801 . 0.697 . HET 0.01 rs9397509 . 0.065 . CLINSIG\x3dunknown|probable-non-pathogenic\x3bCLNDBN\x3dIntellectual_functioning_disability|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000077790.1|RCV000118457.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT:SNOMED_CT|.\x3bCLNDSDBID\x3dC0025362:228156007:91138005|. CLINSIG\x3dunknown|probable-non-pathogenic\x3bCLNDBN\x3dIntellectual_functioning_disability|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000077790.2|RCV000118457.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0025362:228156007:91138005|CN169374 CLINSIG\x3dunknown\x3bCLNDBN\x3dIntellectual_functioning_disability\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000077790.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT:SNOMED_CT\x3bCLNDSDBID\x3dC0025362:228156007:91138005 . 0.00641025641025641 0.0020325203252032522 0.008287292817679558 0.0 0.013192612137203167 16.0068 0.001338 . V.56 V.56 . 0.290000 . . . Name\x3dnsv830846 0.005767 . 0.758 . . V.56 0.0011 0.0063 0.0045 0.0173 0 0.0132 0.0078 0.0090 3.25e-05 0.0021 0.0068 0.0084 0.0099 0 0.0123 0.0087 0.0092 . . 0.246 . 2.241 2.241000 . . 0.290000 . . 1.0E-255 1.000 0.715 . 0.750 0.999 . 0.855 . 0.635 2.241 0.991 0.01 rs9397509 rs9397509 rs9397509 rs9397509 1 1538 10 1/0 0,255,255 +rs147069918 6 155054967 C T - SCAF8 20959 SR-related CTD-associated factor 8 NM_001286188.1 1 4944 4050 NP_001273117.1 substitution missense exon GRCh37 155054967 155054967 Chr6(GRCh37):g.155054967C>T 167 167 NM_001286188.1:c.167C>T p.Ala56Val p.Ala56Val 2 616024 39 3' 77.4475 8.32953 0.159579 3.62709 77.4475 8.32953 0.159579 3.31465 0 rs147069918 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.003292 0.001256 0.001224 0.000734 0.000000 0.001288 0.005238 0.001958 0.005511 0.005238 607 21 20 5 0 26 471 42 22 184410 16726 16334 6812 8994 20180 89924 21448 3992 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 607 21 20 5 0 26 471 42 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.535 0.044 A Ala GCT 0.263 V Val GTT 0.178 56 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . 0.0009 . . 0.0026 . 0.0014 0.0029 . 0.005 . . . SCAF8:NM_001286188:exon2:c.C167T:p.A56V . . 0.67346936 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.328 . @ . . . . . 1 0.325 . . 49.0 . . . . . . . . . . 2.1624 6.556 2.162 n . . . . . 3.052e-03 . . . 0.0017 0.0052 0.0040 0 0.0057 0.0088 0 0.0021 0.0020 0.0053 0.0040 0 0.0059 0.0078 0 0.0021 . . nonsynonymous_SNV . . . UTR5 UTR5 exonic . . 0.146 0.0014 . . . 0.54 0.29 182 ENSG00000213079 SCAF8 SCAF8 . . . 1.000 0.747 . 226 0.00347821 64976 219 0.00365085 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.425 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.090 . . . HET . rs147069918 . . . . . . . . . . . . . . . . . . . . . . . . . 0.055 . . . 0.0007 0.0033 0.0012 0.0008 0 0.0019 0.0052 0.0063 0.0013 0.0017 0.0035 0.0024 0 0 0.0020 0.0054 0.0031 . . 0.018 . . . . . . . . 1.0E-255 0.174 0.238 . 0.454 0.003 . 0.125 . 0.286 . -0.041 0.0026 . . rs147069918 rs147069918 1 1538 10 1/0 0,255,255 +rs151179291 6 158349699 C T - SNX9 14973 Sorting nexin 9 NM_016224.4 1 4291 1788 NP_057308.1 Q9Y5X1 substitution missense exon GRCh37 158349699 158349699 Chr6(GRCh37):g.158349699C>T 1253 1253 NM_016224.4:c.1253C>T p.Thr418Met p.Thr418Met 12 605952 -36 5' 74.72 10.106 0.978581 6.50199 74.72 10.106 0.978581 5.96517 0 Cryptic Acceptor Strongly Activated 158349710 0.274674 6.8e-05 65.4127 1.10649 0.000122 69.5146 Sorting nexin protein, WASP-binding domain Sorting nexin, Snx9 type rs151179291 yes no Frequency/1000G 2 C 0.000000 0 0.003594 0.000000 0.006100 0.001000 0.009900 0.001400 0.005404 0.001034 0.005272 0.015515 0.000979 0.002352 0.007167 0.003324 0.007518 0.015515 1450 24 178 154 18 70 877 82 47 268322 23200 33762 9926 18386 29768 122362 24666 6252 0.000045 0.000000 0.000000 0.000403 0.000000 0.000067 0.000033 0.000000 0.000320 6 0 0 2 0 1 2 0 1 1438 24 178 150 18 68 873 82 45 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4400 12936 64 6 70 0.00744186 0.00136178 0.00538213 0.00744186 0.00136178 0.00538213 49 COSM4406835 Liver 0.000422 2371 transition C T C>T 0.102 -1.893 T Thr ACG 0.116 M Met ATG 1.000 418 12 8 Tetraodon -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 232.67 44.78 Deleterious 0.05 3.VII 255 PASS . 0.0041 0.0028 0.0017 0.01 . 0.0036 0.0014 0.001 0.0099 0.0061 ENSG00000130340:ENST00000392185:exon12:c.C1253T:p.T418M SNX9:uc003qqv.1:exon12:c.C1253T:p.T418M SNX9:NM_016224:exon12:c.C1253T:p.T418M . . 0.4949495 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.904 . @ . . . . . 1 0.954 . . 99.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T418M|SNX9|mRNA|CODING|NM_016224|NM_016224.ex.12) 0.0014 0.0054 0.0074 0.0014 0.0054 0.0074 . -0.2194 -0.286 -0.219 c . . . . . 5.203e-03 . . . 0.0017 0.0061 0.0063 0.0007 0.0051 0.0089 0.0084 0.0031 0.0017 0.0066 0.0065 0.0010 0.0061 0.0092 0.0046 0.0031 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.437 . . exonic exonic exonic . . 0.477 0.0036 . . . 0.27 0.23 182 ENSG00000130340 SNX9 SNX9 . . . 0.999 0.394 . 379 0.00583292 64976 361 0.00601807 59986 Uncertain_significance . 0 . 0.537 . . . . D 0.733 0.079 . . 37 . 0.399 . . 0.318 . . . 0.651 0.488 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.540 . . 0 0 0 0 0 0 . 0.670 . . 0.574 . . . . . . 0 0.531 . . . . . 0.689 . 0.701 . HET 0.01 rs151179291 . 0.051 . . . . . 0.004120879120879121 0.0 0.0027624309392265192 0.0017482517482517483 0.009234828496042216 14.7315 0.001338 . 5.II IV.14 . 0.100000 Q9Y5X1 . . Name\x3dnsv5558 0.005382 . 0.463 . . IV.14 0.0012 0.0054 0.0053 0.0156 0.0008 0.0031 0.0069 0.0070 0.0024 0.0007 0.0057 0.0060 0.0132 0.0025 0.0049 0.0088 0.0102 . . 0.730 . -1.637 -1.637000 . . 0.100000 . . 1.0E-255 0.997 0.399 . 0.625 0.998 . 0.534 . 0.490 -1.637 0.871 0.01 . . rs151179291 rs151179291 1 1538 10 1/0 0,255,255 +. 6 158509887 A G - SYNJ2 11504 Synaptojanin 2 NM_003898.3 1 7409 4491 NP_003889.1 O15056 substitution intron GRCh37 158509887 158509887 Chr6(GRCh37):g.158509887A>G 3456+83 3456+83 NM_003898.3:c.3456+83A>G p.? p.? 24 24 609410 83 5' 74.1084 7.21055 0.927669 5.57707 74.1084 7.21055 0.927669 5.57707 0 0.000226 0.000000 0.000000 0.000000 0.000000 0.000000 0.000466 0.000000 0.000000 0.000466 7 0 0 0 0 0 7 0 0 30960 8726 838 302 1616 0 15006 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.1605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000078269 SYNJ2 SYNJ2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs377710394 6 160132326 T A - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132326 160132326 Chr6(GRCh37):g.160132326T>A -18127 -18127 NM_000636.3:c.-18127A>T p.? p.? 1 147460 -18150 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 rs377710394 no no 0 T 0.000000 0 0.007338 0.009153 0.019481 0.022727 0.006024 0.000000 0.006125 0.007160 0.005882 0.022727 42 8 3 2 3 0 19 6 1 5724 874 154 88 498 0 3102 838 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 8 3 2 3 0 19 6 1 0 0 0 0 0 0 0 0 0 RF 72 Genomes transversion A T A>T 0.016 0.044 230 PASS . . . . . . . . . . . . . . . . 0.24418604 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 86.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d17973\x3bdist\x3d15704 dist\x3d17973\x3bdist\x3d15704 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs377710394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0092 0.0073 0.0195 0.0227 0.0060 0.0072 0.0061 0.0059 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs377710394 rs377710394 1 1538 10 1/0 0,245,255 +. 6 160132347 T C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132347 160132347 Chr6(GRCh37):g.160132347T>C -18148 -18148 NM_000636.3:c.-18148A>G p.? p.? 1 147460 -18171 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 0.002357 0.001412 0.011364 0.000000 0.000000 0.000000 0.001790 0.005168 0.000000 0.011364 12 1 2 0 0 0 5 4 0 5092 708 176 76 400 0 2794 774 164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 1 2 0 0 0 5 4 0 0 0 0 0 0 0 0 0 0 RF 77 Genomes transition A G A>G 0.059 0.044 183 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d17994\x3bdist\x3d15683 dist\x3d17994\x3bdist\x3d15683 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0024 0.0114 0 0 0.0052 0.0018 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +. 6 160132401 A AC - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 insertion upstream GRCh37 160132401 160132402 Chr6(GRCh37):g.160132401_160132402insC -18203 -18202 NM_000636.3:c.-18203_-18202insG p.? p.? 1 147460 -18225 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 New Donor Site 160132402 5.83957 0.738244 69.9338 rs762473745 no no 0 0.000000 0 0.001447 0.000000 0.000000 0.000000 0.000000 0.000000 0.001458 0.003448 0.000000 0.003448 2 0 0 0 0 0 1 1 0 1382 118 54 24 144 0 686 290 66 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 189 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.27868852 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 61 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . . . . . . . . ENSG00000112096 . . . dist\x3d18048\x3bdist\x3d15629 dist\x3d18048\x3bdist\x3d15629 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . rs762473745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0014 0 0 0 0.0034 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,55 +rs545072737 6 160132404 A T - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132404 160132404 Chr6(GRCh37):g.160132404A>T -18205 -18205 NM_000636.3:c.-18205T>A p.? p.? 1 147460 -18228 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 rs545072737 yes no Frequency/1000G 2 0.000000 0 0.014976 0.020400 0.021500 0.005000 0.012900 0.013000 0.002283 0.000000 0.000000 0.000000 0.000000 0.000000 0.002262 0.005618 0.000000 0.005618 2 0 0 0 0 0 1 1 0 876 78 20 22 102 0 442 178 34 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 292 Genomes transversion T A T>A 0.012 -2.377 237 PASS . . . . . 0.02 0.015 0.013 0.005 0.013 0.021 . . . . . 0.26785713 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 56.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . 0.0150 . . . . . . ENSG00000112096 . . . dist\x3d18051\x3bdist\x3d15626 dist\x3d18051\x3bdist\x3d15626 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs545072737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0023 0 0 0 0.0056 0.0023 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 160132696 T C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132696 160132696 Chr6(GRCh37):g.160132696T>C -18497 -18497 NM_000636.3:c.-18497A>G p.? p.? 1 147460 -18520 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 0.002546 0.003213 0.000000 0.000000 0.000000 0.000000 0.002052 0.007042 0.000000 0.007042 15 5 0 0 0 0 6 4 0 5892 1556 82 92 466 0 2924 568 204 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 5 0 0 0 0 6 4 0 0 0 0 0 0 0 0 0 0 RF 162 Genomes transition A G A>G 0.000 -14.080 200 PASS . . . . . . . . . . . . . . . . 0.14492753 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d18343\x3bdist\x3d15334 dist\x3d18343\x3bdist\x3d15334 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0025 0 0 0 0.0070 0.0021 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200043120 6 160132705 T C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132705 160132705 Chr6(GRCh37):g.160132705T>C -18506 -18506 NM_000636.3:c.-18506A>G p.? p.? 1 147460 -18529 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 New Donor Site 160132706 1.28776 0.073248 73.2228 rs200043120 no no 0 T 0.000000 0 0.000961 0.000328 0.000000 0.000000 0.004918 0.000000 0.000466 0.003326 0.000000 0.004918 9 1 0 0 3 0 2 3 0 9364 3048 156 104 610 0 4290 902 254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 3 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 103 Genomes transition A G A>G 0.000 -14.080 217 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . 0.22 0.03 182 ENSG00000112096 . . . dist\x3d18352\x3bdist\x3d15325 dist\x3d18352\x3bdist\x3d15325 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200043120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0010 0 0 0.0049 0.0033 0.0005 0 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs200043120 rs200043120 1 1538 10 1/0 0,242,255 +rs201014460 6 160132707 A T - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132707 160132707 Chr6(GRCh37):g.160132707A>T -18508 -18508 NM_000636.3:c.-18508T>A p.? p.? 1 147460 -18531 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 rs201014460 no no 0 A 0.000000 0 0.000067 0.000000 0.000000 0.000000 0.001295 0.000000 0.000000 0.000000 0.000000 0.001295 1 0 0 0 1 0 0 0 0 14906 4840 342 148 772 0 6816 1562 426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 66 Genomes transversion T A T>A 0.000 -14.080 194 PASS . . . . . . . . . . . . . . . . 0.14634146 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . 0.22 0.06 182 ENSG00000112096 . . . dist\x3d18354\x3bdist\x3d15323 dist\x3d18354\x3bdist\x3d15323 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs201014460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.709e-05 0 0 0.0013 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs201014460 rs201014460 1 1538 10 1/0 0,239,255 +rs878863124 6 160132836 A C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132836 160132836 Chr6(GRCh37):g.160132836A>C -18637 -18637 NM_000636.3:c.-18637T>G p.? p.? 1 147460 -18660 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 Cryptic Donor Strongly Activated 160132841 0.004322 61.1471 0.954736 0.068795 73.5399 rs878863124 no no 0 0.000000 0 0.001092 0.000355 0.001825 0.000000 0.000000 0.000000 0.001390 0.001496 0.003597 0.001825 20 2 1 0 0 0 12 3 2 18316 5638 548 214 720 0 8634 2006 556 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 2 1 0 0 0 12 3 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion T G T>G 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.1125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 80.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d18483\x3bdist\x3d15194 dist\x3d18483\x3bdist\x3d15194 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0011 0.0018 0 0 0.0015 0.0014 0.0036 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs374932448 6 160132849 T C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160132849 160132849 Chr6(GRCh37):g.160132849T>C -18650 -18650 NM_000636.3:c.-18650A>G p.? p.? 1 147460 -18673 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 rs374932448 no no 0 0.000000 0 0.006531 0.001614 0.006349 0.009091 0.000000 0.000000 0.008527 0.012442 0.001475 0.012442 137 9 4 2 0 0 89 32 1 20978 5576 630 220 864 0 10438 2572 678 0.102190 0.000000 0.000000 0.000000 0.000000 0.000000 0.101124 0.156250 0.000000 14 0 0 0 0 0 9 5 0 109 9 4 2 0 0 71 22 1 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition A G A>G 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.3783784 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d18496\x3bdist\x3d15181 dist\x3d18496\x3bdist\x3d15181 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs374932448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0065 0.0063 0.0091 0 0.0124 0.0085 0.0015 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374932448 rs374932448 1 1538 10 1/0 0,255,255 +rs186822543 6 160133100 G C - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160133100 160133100 Chr6(GRCh37):g.160133100G>C -18901 -18901 NM_000636.3:c.-18901C>G p.? p.? 1 147460 -18924 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 transversion C G C>G 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 21.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . 0.2011 . . . 0.22 0.08 182 ENSG00000112096 . . . dist\x3d18747\x3bdist\x3d14930 dist\x3d18747\x3bdist\x3d14930 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 6 160133101 G A - SOD2 11180 Superoxide dismutase 2, mitochondrial NM_000636.3 -1 4259 669 NP_000627.2 P04179 substitution upstream GRCh37 160133101 160133101 Chr6(GRCh37):g.160133101G>A -18902 -18902 NM_000636.3:c.-18902C>T p.? p.? 1 147460 -18925 5' 81.348 7.62374 0.753827 6.92928 81.348 7.62374 0.753827 6.92928 0 transition C T C>T 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 22.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000112096 . . . dist\x3d18748\x3bdist\x3d14929 dist\x3d18748\x3bdist\x3d14929 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs186584856 6 160543439 A G - SLC22A1 10963 Solute carrier family 22 (organic cation transporter), member 1 NM_003057.2 1 1906 1665 NP_003048.1 O15245 substitution intron GRCh37 160543439 160543439 Chr6(GRCh37):g.160543439A>G 411+61 411+61 NM_003057.2:c.411+61A>G p.? p.? 1 1 602607 61 5' 79.4649 7.30369 0.944905 5.70233 79.4649 7.30369 0.944905 5.82463 0 rs186584856 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.003424 0.000000 0.001196 0.003311 0.000000 0.000000 0.004734 0.008586 0.003061 0.008586 106 0 1 1 0 0 71 30 3 30960 8728 836 302 1622 0 14998 3494 980 0.009434 0.000000 0.000000 0.000000 0.000000 0.000000 0.014085 0.000000 0.000000 1 0 0 0 0 0 1 0 0 104 0 1 1 0 0 69 30 3 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -2.619 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0006 0.0014 . 0.002 . . . . . . 0.5294118 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.5614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.23 0.16 182 ENSG00000175003 SLC22A1 SLC22A1 . . . . . . 181 0.00278564 64976 178 0.00296736 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186584856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0034 0.0012 0.0033 0 0.0086 0.0047 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs186584856 rs186584856 1 1538 10 1/0 0,255,255 +rs200796582 6 161970057 T C - PRKN 8607 Parkin RBR E3 ubiquitin protein ligase NM_004562.2 -1 4073 1398 NP_004553.2 O60260 substitution intron GRCh37 161970057 161970057 Chr6(GRCh37):g.161970057T>C 934-22 934-22 NM_004562.2:c.934-22A>G p.? p.? 9 8 602544 -22 3' 86.0763 7.15055 0.958223 6.90284 86.0763 7.15055 0.958223 5.53446 0 rs200796582 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000000 0.004100 0.000000 0.000000 0.000000 0.000889 0.000084 0.000029 0.000000 0.000000 0.004484 0.000736 0.000194 0.001085 0.004484 246 2 1 0 0 138 93 5 7 276606 23910 34414 10132 18842 30776 126290 25790 6452 0.000029 0.000000 0.000000 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 238 2 1 0 0 130 93 5 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4406 12999 7 0 7 0.000813953 0 0.000538213 0.000813953 0 0.000538213 42 transition A G A>G 0.000 -1.005 255 PASS . . . . . . 0.0008 . . . 0.0041 . . . . . 0.525641 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . -0.2264 . . . . . . . . 9.708e-04 . . . 0 0.0012 8.679e-05 0 0 0.0007 0 0.0044 0 0.0010 8.941e-05 0 0.0002 0.0005 0.0015 0.0043 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.33 0.39 182 ENSG00000185345 PARK2 PARK2 . . . . . . 12 0.000184684 64976 8 0.000133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200796582 . . . . . . . . . . . . . . . . . . . . . . . 0.000538 . . . . . 6.588e-05 0.0009 0 0 0 0.0002 0.0007 0.0013 0.0045 0.0001 0.0005 0.0012 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs200796582 rs200796582 1 1538 10 1/0 0,255,255 +. 6 165863695 C CA - PDE10A 8772 Phosphodiesterase 10A NM_001130690.2 -1 8195 2370 NP_001124162.1 duplication intron GRCh37 165863695 165863696 Chr6(GRCh37):g.165863696dup 346+34 346+34 NM_001130690.2:c.346+34dup p.? p.? 4 4 610652 34 5' 90.5431 9.14378 0.996799 5.75509 90.5431 9.14378 0.996799 4.12176 0 rs57550533 yes no Frequency/1000G 2 0.000000 0 0.999800 1.000000 1.000000 1.000000 0.999000 1.000000 0.999958 0.999955 0.999958 1.000000 1.000000 1.000000 0.999930 1.000000 1.000000 1.000000 238092 22441 23831 8238 16088 22524 114630 25034 5306 238102 22442 23832 8238 16088 22524 114638 25034 5306 0.999916 0.999911 0.999916 1.000000 1.000000 1.000000 0.999860 1.000000 1.000000 119041 11220 11915 4119 8044 11262 57311 12517 2653 5 1 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 5 5 8254 4259 12513 0 0.00117261 0.000399425 1 0.998827 0.999601 105 T 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.94871795 . . . 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . 1. 1. 1. . . . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 0.9999 1 1 1 1.0000 1 1 1 0.9999 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000112541 PDE10A PDE10A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397732933 0.109 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1.0000 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs57550533 rs57550533 1 1538 10 1.I 0,2,2 +rs138600299 6 167184378 G A - RPS6KA2 10431 Ribosomal protein S6 kinase, 90kDa, polypeptide 2 NM_001318936.1 -1 6056 2277 NP_001305865.1 substitution synonymous exon GRCh37 167184378 167184378 Chr6(GRCh37):g.167184378G>A 147 147 NM_001318936.1:c.147C>T p.Cys49= p.Cys49Cys 3 601685 24 3' 90.9131 9.47447 0.984397 9.20343 90.9131 9.47447 0.984397 8.43541 0 Cryptic Donor Weakly Activated 167184380 67.2198 4.07321 0.240605 73.1419 rs138600299 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.001000 0.000000 0.007000 0.002900 0.005183 0.001198 0.002357 0.023200 0.000000 0.001030 0.007547 0.001811 0.004971 0.023200 1331 27 80 230 0 31 903 29 31 256782 22532 33940 9914 18394 30106 119644 16016 6236 0.000039 0.000000 0.000000 0.000605 0.000000 0.000000 0.000033 0.000000 0.000000 5 0 0 3 0 0 2 0 0 1321 27 80 224 0 31 899 29 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3950 1750 5700 32 2 34 0.00803616 0.00114155 0.00592954 0.00803616 0.00114155 0.00592954 152 transition C T C>T 0.000 -3.669 C Cys TGC 0.552 C Cys TGT 0.448 49 255 PASS . 0.0023 0.0028 . 0.01 . 0.002 0.0029 . 0.007 0.001 . RPS6KA2:uc003qvd.1:exon3:c.C147T:p.C49C . . . 0.51785713 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||RPS6KA2|mRNA|CODING|NM_001006932|) 0.0011 0.0059 0.008 0.0011 0.0059 0.008 . -0.5611 . . . . . . . . 4.865e-03 . . . 0.0014 0.0048 0.0023 0 0.0013 0.0091 0.0015 0.0012 0.0014 0.0045 0.0023 0 0.0020 0.0074 0.0015 0.0012 synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . 0.0020 . . . 0.45 0.39 182 ENSG00000071242 RPS6KA2 RPS6KA2 . . . . . . 426 0.00655627 64976 416 0.00693495 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138600299 . . . . . . . . . . . . . . . . . . . . . . . 0.005930 . . . . . 0.0012 0.0054 0.0023 0.0232 0 0.0020 0.0078 0.0055 0.0010 0.0013 0.0038 0.0036 0.0232 0 0.0011 0.0060 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs138600299 rs138600299 1 1538 10 1/0 0,255,255 +rs752323292 6 167728900 T C - UNC93A 12570 Unc-93 homolog A (C. elegans) NM_018974.3 1 2111 1374 NP_061847.2 Q86WB7 substitution missense exon GRCh37 167728900 167728900 Chr6(GRCh37):g.167728900T>C 1334 1334 NM_018974.3:c.1334T>C p.Val445Ala p.Val445Ala 8 607995 226 3' 85.6412 XI.78 0.971875 XII.53 85.6412 XI.78 0.971875 XII.53 0 rs752323292 yes no Frequency 1 C 0.000000 0 0.000451 0.000128 0.000029 0.000000 0.001260 0.000165 0.000715 0.000081 0.000000 0.001260 121 3 1 0 23 5 87 2 0 268462 23486 33994 9996 18252 30250 121610 24598 6276 0.000007 0.000000 0.000000 0.000000 0.000110 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 119 3 1 0 21 5 87 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM140578|COSM140578|COSM140578|COSM140578|COSM140578|COSM140578 Upper aerodigestive tract|Thyroid|Skin|Lung|Liver|Large intestine 0.002406|0.004016|0.000812|0.000419|0.001687|0.000448 1247|747|1232|2389|2371|2231 transition T C T>C 0.000 -1.005 V Val GTC 0.240 A Ala GCC 0.403 445 19 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.75 III.34 good 4.826E-1 0.5162 194 PASS . . . . . . . . . . . . . . . . 0.14414415 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.031 . . 111.0 . . . . . . . . . . -1.6603 -1.674 -1.660 c . . . . . 5.501e-03 . . . 0.0020 0.0029 0.0004 0.0036 0 0.0045 0.0084 0.0012 0.0007 0.0006 8.921e-05 0.0006 0.0026 0.0003 0.0029 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.045 . . exonic exonic exonic . . 0.038 @ . . . 0.33 0.36 182 ENSG00000112494 UNC93A UNC93A . . . 0.812 0.243 . . . . . . . Likely_benign . 0 . 0.017 . . . . T 0.029 0.002 . . 37 . 0.004 . . 0.438 . . . 0.014 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.035 . . . . . 0.001 . 0.008 . LowAF 0.72 rs752323292 . . . . . . . . . . . . 0.201 . . III.86 -3.95 . 0.740000 . . . . . . 0.009 . . . 0 0.0005 3.011e-05 0 0.0011 4.678e-05 0.0008 0 0.0002 0.0004 0.0004 0 0 0.0028 0.0003 0.0003 0 . . 0.340 . -0.778 -0.778000 . . 0.740000 . . 1.0E-194 0.000 0.063 . 0.016 0.000 . 0.075 . 0.032 -0.778 -1.847 . . . . . 1 1538 10 1/0 0,225,255 +rs762682220 6 167728901 C G - UNC93A 12570 Unc-93 homolog A (C. elegans) NM_018974.3 1 2111 1374 NP_061847.2 Q86WB7 substitution synonymous exon GRCh37 167728901 167728901 Chr6(GRCh37):g.167728901C>G 1335 1335 NM_018974.3:c.1335C>G p.Val445= p.Val445Val 8 607995 227 3' 85.6412 XI.78 0.971875 XII.53 85.6412 XI.78 0.971875 XII.53 0 Cryptic Donor Strongly Activated 167728898 II.06 0.135999 72.1874 5.56019 0.576063 77.7075 rs762682220 yes no Frequency 1 G 0.000000 0 0.000496 0.000169 0.000029 0.000000 0.001251 0.000165 0.000808 0.000080 0.000000 0.001251 134 4 1 0 23 5 99 2 0 270262 23604 34100 10020 18384 30352 122554 24958 6290 0.000007 0.000000 0.000000 0.000000 0.000109 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 132 4 1 0 21 5 99 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4594687|COSM4594687|COSM4594687|COSM4594687 Upper aerodigestive tract|Thyroid|Prostate|Liver 0.000802|0.001339|0.000567|0.001687 1247|747|1764|2371 transversion C G C>G 0.000 -1.812 V Val GTC 0.240 V Val GTG 0.468 445 188 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . . . . . . . . -0.3986 . . . . . . . . 5.493e-03 . . . 0.0020 0.0029 0.0004 0.0036 0 0.0045 0.0084 0.0012 0.0007 0.0006 8.917e-05 0.0006 0.0026 0.0003 0.0029 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000112494 UNC93A UNC93A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs762682220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 3.003e-05 0 0.0011 4.614e-05 0.0009 0 0.0002 0.0005 0.0005 0 0 0.0027 0.0003 0.0004 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs747901639 6 167797726 G A - TCP10 11656 T-complex 10 homolog (mouse) NM_004610.3 -1 1273 981 NP_004601.3 substitution intron GRCh37 167797726 167797726 Chr6(GRCh37):g.167797726G>A 60 60 NM_004610.3:c.-83+143C>T p.? p.? 1 1 187020 143 5' 90.6189 10.0684 0.963751 7.53123 90.6189 10.0684 0.963751 7.53123 0 rs747901639 yes no Frequency 1 G 0.000000 0 0.003624 0.006452 0.003038 0.000330 0.000450 0.004239 0.004265 0.001171 0.006112 0.006452 435 58 65 2 4 77 201 7 21 120044 8990 21398 6052 8894 18164 47132 5978 3436 0.000067 0.000000 0.000000 0.000000 0.000000 0.000220 0.000085 0.000000 0.000000 4 0 0 0 0 2 2 0 0 427 58 65 2 4 73 197 7 21 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.328 233 PASS . . . . . . . . . . . ENSG00000203690:ENST00000460930:exon1:c.C195T:p.R65R TCP10:uc003qvw.3:exon1:c.C135T:p.R45R . . . 0.25301206 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||TCP10|mRNA|CODING|NM_004610|) . . . . . . . -0.4716 . . . . . . . . 2.903e-03 . . . 0.0048 0.0098 0 0 0 0.0035 0 0.0148 0.0116 0.0106 0 0 0 0 0 0.0149 synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . @ . . . 0.07 0.07 182 ENSG00000203690 TCP10 TCP10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747901639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0083 0.0037 0.0031 0.0003 0.0004 0.0010 0.0045 0.0064 0.0042 0.0036 0.0028 0.0019 0 0.0020 0.0015 0.0028 0.0044 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs9348225 rs9348225 rs9348225 rs9348225 1 1538 10 1/0 0,249,255 +rs2983667 6 167797850 A C - TCP10 11656 T-complex 10 homolog (mouse) NM_004610.3 -1 1273 981 NP_004601.3 substitution intron GRCh37 167797850 167797850 Chr6(GRCh37):g.167797850A>C -64 -64 NM_004610.3:c.-83+19T>G p.? p.? 1 1 187020 19 5' 90.6189 10.0684 0.963751 7.53123 90.6189 10.0684 0.963751 7.87552 0 New Donor Site 167797851 0.668974 0.004167 63.9968 rs2983667 yes no Frequency/1000G 2 0.000000 0 0.003150 0.009519 0.005430 0.000261 0.007027 0.002213 0.001608 0.000471 0.005390 0.009519 445 97 120 2 58 46 96 4 22 141278 10190 22100 7672 8254 20786 59700 8494 4082 0.001543 0.002748 0.003891 0.000000 0.003392 0.001539 0.000469 0.000235 0.003430 109 14 43 0 14 16 14 1 7 227 69 34 2 30 14 68 2 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 0.125 255 PASS 0.03 0.03 0.03 0.03 0.03 . . . . . . ENSG00000203690:ENST00000460930:exon1:c.T71G:p.V24G TCP10:uc003qvw.3:exon1:c.T11G:p.V4G . . . 0.33 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.076 . @ . . . . . 2 0.043 . . 100.0 . . INTRON(MODIFIER||||TCP10|mRNA|CODING|NM_004610|) . . . . . . . -0.8972 -1.106 -0.897 c . . . . . 8.017e-03 . . . 0.0043 0.0007 0.0058 0 0 0.0006 0 0.0004 0 0.0005 0.0076 0 0 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV . 0.377 . . exonic exonic intronic . . 0.214 @ . . . 0.21 0.1 182 ENSG00000203690 TCP10 TCP10 . . . 0.001 0.077 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.180 . . 0.254 . . . . 0.090 . . . . . . . . . . . . . . . 0.010 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . 0.132 . 0.025 . HET . rs2983667 0.152 0.123 . . . . . 0.03021978021978022 0.034552845528455285 0.03314917127071823 0.026223776223776224 0.029023746701846966 IV.06 . ENST00000460930 I.42 I.42 . 0.000000 . . . . . . 0.002 . . . 0.0079 0.0027 0.0055 0.0001 0.0059 0.0004 0.0012 0.0051 0.0022 0.0109 0.0054 0.0045 0.0039 0.0159 0.0007 0.0032 0.0064 . . 0.133 . 0.184 0.184000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.045 . 0.108 0.184 -0.196 0.15 rs2983667 rs2983667 rs2983667 rs141919804 1 1538 10 1/0 0,246,255 +rs767918339 (chr6:168688080 A/G) 6 168688080 A G No Alamut gene - other known genes: CTAGE13P CTAGE13P +. (chr6:168688103 A/T) 6 168688103 A T No Alamut gene - other known genes: CTAGE13P CTAGE13P +rs73043846 6 169619925 C T - THBS2 11786 Thrombospondin 2 NM_003247.3 -1 5881 3519 NP_003238.2 P35442 substitution intron GRCh37 169619925 169619925 Chr6(GRCh37):g.169619925C>T 3511+368 3511+368 NM_003247.3:c.3511+368G>A p.? p.? 22 22 188061 368 5' 92.583 10.0326 0.992039 7.88321 92.583 10.0326 0.992039 7.88321 0 rs73043846 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.024 -0.037 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||THBS2|mRNA|CODING|NM_003247|) . . . . . . . -0.0223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.17 0.1 182 ENSG00000226445 THBS2 THBS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73043846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . rs73043846 rs73043846 rs73043846 1 1538 10 1/0 0,255,255 +rs10945403 6 169619933 T C - THBS2 11786 Thrombospondin 2 NM_003247.3 -1 5881 3519 NP_003238.2 P35442 substitution intron GRCh37 169619933 169619933 Chr6(GRCh37):g.169619933T>C 3511+360 3511+360 NM_003247.3:c.3511+360A>G p.? p.? 22 22 188061 360 5' 92.583 10.0326 0.992039 7.88321 92.583 10.0326 0.992039 7.88321 0 rs10945403 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.004500 0.004100 0.006000 0.001000 0.001400 0.000557 0.000582 0.000000 0.000000 0.006901 0.000000 0.000000 0.000000 0.001037 0.006901 17 5 0 0 11 0 0 0 1 30512 8596 824 300 1594 0 14754 3480 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition A G A>G 0.000 -0.602 218 PASS . . . . . 0.0045 0.0036 0.0014 0.006 0.001 0.0041 . . . . . 0.21052632 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||THBS2|mRNA|CODING|NM_003247|) . . . . . . . -0.2785 . . . . . . . . 6.243e-04 . . . 0.0006 0.0007 0 0.0070 0 0 0 0.0011 0.0006 0.0006 0 0.0052 0 0 0 0.0011 . . . . . . ncRNA_intronic intronic intronic . . . 0.0036 . . . 0.16 0.17 182 ENSG00000226445 THBS2 THBS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10945403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0006 0 0 0.0069 0 0 0.0010 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . rs10945403 rs10945403 rs10945403 rs10945403 1 1538 10 1/0 0,255,255 +rs188768797 6 170844582 G T - PSMB1 9537 Proteasome (prosome, macropain) subunit, beta type, 1 NM_002793.3 -1 917 726 NP_002784.1 P20618 substitution intron GRCh37 170844582 170844582 Chr6(GRCh37):g.170844582G>T 541-89 541-89 NM_002793.3:c.541-89C>A p.? p.? 6 5 602017 -89 3' 83.2714 7.86311 0.852282 8.53594 83.2714 7.86311 0.852282 8.53594 0 New Acceptor Site 170844580 1.88255 0.031693 60.0408 170844579 -20.2941 rs188768797 yes no Frequency/1000G 2 G 0.000000 0 0.001711 0.000115 0.000000 0.003311 0.000000 0.000000 0.002865 0.001145 0.004073 0.003311 53 1 0 1 0 0 43 4 4 30974 8730 836 302 1622 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 1 0 1 0 0 43 4 4 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.000 -2.135 255 PASS . 0.0005 . . 0.0013 . . . . . . . . . . . 0.5588235 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||PSMB1|mRNA|CODING|NM_002793|) . . . . . . . -0.2692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.17 182 ENSG00000008018 PSMB1 PSMB1 . . . . . . 54 0.000831076 64976 53 0.000883539 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188768797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0017 0 0.0033 0 0.0011 0.0029 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs188768797 rs188768797 1 1538 10 1/0 0,255,255 +. (chr6:171054844 G/T) 6 171054844 G T Not on a known gene +rs866585381 (chr7:19834 C/G) 7 19834 C G Not on a known gene +rs375542585 7 540736 C T - PDGFA 8799 Platelet-derived growth factor alpha polypeptide NM_002607.5 -1 2809 636 NP_002598.4 P04085 substitution intron GRCh37 540736 540736 Chr7(GRCh37):g.540736C>T 580+17 580+17 NM_002607.5:c.580+17G>A p.? p.? 5 5 173430 17 5' 86.6769 9.89081 0.982942 9.75772 86.6769 9.89081 0.982942 IX.92 0 rs375542585 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001284 0.000458 0.000203 0.000296 0.000000 0.000130 0.002392 0.000737 0.001392 0.002392 356 11 7 3 0 4 303 19 9 277190 24038 34420 10152 18870 30782 126684 25780 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 354 11 7 3 0 4 301 19 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4405 12987 10 1 11 0.00116387 0.000226963 0.000846284 0.00116387 0.000226963 0.000846284 166 transition G A G>A 0.000 -3.265 255 PASS . . . . . . 0.0002 . . 0.001 . . PDGFA:uc003sit.1:exon3:c.G639A:p.S213S . . . 0.5169082 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 207.0 . . . 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . -0.6264 . . . . . . . . 1.492e-03 . . . 0.0006 0.0009 0 0 0.0008 0.0016 0 0.0002 0.0007 0.0015 0 0 0.0011 0.0027 0 0.0002 . synonymous_SNV . . . . intronic exonic intronic . . . 0.0002 . . . 0.21 0.14 182 ENSG00000197461 PDGFA PDGFA . . . . . . 91 0.00140052 64976 90 0.00150035 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375542585 . . . . . . . . . . . . . . . . . . . . . . . 0.000846 . . . . . 0.0005 0.0013 0.0002 0.0003 0 0.0006 0.0024 0.0011 0.0001 0.0005 0.0014 0 0 0 0.0014 0.0021 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs375542585 rs375542585 1 1538 10 1/0 0,228,241 +. 7 801634 T TTGAGCCCCAGGCCTCAAACATGTC - DNAAF5 26013 Dynein, axonemal, assembly factor 5 NM_017802.3 1 3414 2568 NP_060272.3 Q86Y56 insertion intron GRCh37 801637 801638 Chr7(GRCh37):g.801637_801638insGCCCCAGGCCTCAAACATGTCTGA 1614+104 1614+105 NM_017802.3:c.1614+104_1614+105insGCCCCAGGCCTCAAACATGTCTGA p.? p.? 7 7 614864 104 5' 94.6745 X.23 0.998781 8.18449 94.6745 X.23 0.998781 8.18449 0 rs142752861 yes no Frequency/1000G 2 0.000000 0 0.824681 0.860800 0.894700 0.724200 0.828000 0.798300 GCCCCAGGCCTCAAACATGTCTGA 255 Pass . . . . . . . . . . . . . . . . 0.2580645 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000164818 HEATR2 DNAAF5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142752861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,59 +rs4722203 7 926827 T C - GET4 21690 Golgi to ER traffic protein 4 homolog (S. cerevisiae) NM_015949.2 1 2088 984 NP_057033.2 Q7L5D6 substitution intron GRCh37 926827 926827 Chr7(GRCh37):g.926827T>C 317-180 317-180 NM_015949.2:c.317-180T>C p.? p.? 4 3 612056 -180 3' 85.8256 7.59937 0.29011 5.83966 85.8256 7.59937 0.29011 5.83966 0 rs4722203 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999966 0.999951 1.000000 1.000000 1.000000 1.000000 0.999932 1.000000 1.000000 1.000000 236950 20577 29774 9354 16222 28254 103401 23536 5832 236958 20578 29774 9354 16222 28254 103408 23536 5832 0.999932 0.999903 1.000000 1.000000 1.000000 1.000000 0.999865 1.000000 1.000000 118471 10288 14887 4677 8111 14127 51697 11768 2916 8 1 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.279 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. ENSG00000239857:ENST00000426056:exon1:c.T132C:p.H44H . . . . 1.0 . . @ 132 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||GET4|mRNA|CODING|NM_015949|) . . . . . . . 0.5247 . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 0.9999 1 1 1 1.0000 1 1 1 0.9999 1 1 synonymous_SNV . . . . . exonic intronic intronic . . . 0.0000 . . . 0.24 0.05 182 ENSG00000239857 GET4 GET4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs4722203 0.848 0.899 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs4722203 rs4722203 rs4722203 rs4722203 1 1538 255 1.I 0,0,255 +rs561981177 7 1477775 G A - MICALL2 29672 MICAL-like 2 NM_182924.3 -1 3099 2715 NP_891554.1 Q8IY33 substitution missense exon GRCh37 1477775 1477775 Chr7(GRCh37):g.1477775G>A 2269 2269 NM_182924.3:c.2269C>T p.Arg757Cys p.Arg757Cys 12 -43 5' 86.8044 8.70331 0.909569 14.2375 86.8044 8.70331 0.909569 14.031 0 Domain of unknown function DUF3585 rs561981177 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000118 0.000059 0.000039 0.000000 0.000000 0.000127 0.000186 0.000106 0.000205 0.000186 22 1 1 0 0 3 14 2 1 187012 16858 25902 8534 13122 23688 75082 18954 4872 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 1 1 0 0 3 14 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.008 -0.117 R Arg CGC 0.190 C Cys TGC 0.552 757 11 7 Dog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C35 56.64 154.23 Deleterious 0 III.38 bad 1.255E-4 0.001415 255 PASS . . . . . . 0.0002 0.0014 . . . . . MICALL2:NM_182924:exon12:c.C2269T:p.R757C . . 0.5555556 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.647 . @ . . . . . 1 0.855 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R757C|MICALL2|mRNA|CODING|NM_182924|NM_182924.ex.12) . . . . . . . -0.2485 -0.525 -0.248 c . . . . . 8.379e-05 . . . 0 0.0002 0 0 0 0.0003 0 0.0001 0 0.0002 0 0 0 0.0003 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.496 . . exonic exonic exonic . . 0.133 0.0002 . . . . . . ENSG00000164877 MICALL2 MICALL2 . . . 0.735 0.231 . . . . . . . Uncertain_significance . 0 . 0.093 . . . . D 0.868 0.202 . . 37 . 0.661 . . 0.588 . . . 0.837 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.816 . . 0 0 0 0 0 0 . 0.899 . . 0.713 . . . . . . 0 0.784 . . . . . 0.565 . 0.378 . HET 0 rs561981177 . . . . . . . . . . . . XII.94 0.0 . III.95 -0.0123 . 0.000000 . . . . . . 0.099 . . . 0.0001 0.0001 3.99e-05 0 0 0.0001 0.0001 0.0003 0.0001 0 0.0002 0 0 0 0 0.0003 0 . . 0.450 . -0.178 -0.178000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.255 0.465 . 0.098 . 0.108 -0.178 0.035 . . . . . 1 1538 10 1/0 0,255,255 +rs78793025 7 1528945 C A - INTS1 24555 Integrator complex subunit 1 NM_001080453.2 -1 6974 6573 NP_001073922.2 Q8N201 substitution intron GRCh37 1528945 1528945 Chr7(GRCh37):g.1528945C>A 2318+35 2318+35 NM_001080453.2:c.2318+35G>T p.? p.? 18 18 611345 35 5' 83.5016 9.09532 0.97749 11.0363 83.5016 9.09532 0.97749 X.12 0 rs78793025 no no 0 C 0.000000 0 0.000017 0.000000 0.000048 0.000000 0.000000 0.000000 0.000022 0.000000 0.000000 0.000048 2 0 1 0 0 0 1 0 0 117654 6288 20790 6270 8956 18402 44964 8830 3154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 90 Exomes transversion G T G>T 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.3740458 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . INTRON(MODIFIER||||INTS1|mRNA|CODING|NM_001080453|) . . . . . . . -0.4719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.06 0.09 182 ENSG00000164880 INTS1 INTS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78793025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.7e-05 4.81e-05 0 0 0 2.224e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78793025 rs78793025 1 1538 10 1/0 0,238,255 +rs80163046 7 1528946 A G - INTS1 24555 Integrator complex subunit 1 NM_001080453.2 -1 6974 6573 NP_001073922.2 Q8N201 substitution intron GRCh37 1528946 1528946 Chr7(GRCh37):g.1528946A>G 2318+34 2318+34 NM_001080453.2:c.2318+34T>C p.? p.? 18 18 611345 34 5' 83.5016 9.09532 0.97749 11.0363 83.5016 9.09532 0.97749 10.931 0 rs80163046 no no 0 A 0.000000 0 0.000490 0.000000 0.002336 0.000000 0.000000 0.000000 0.000467 0.000000 0.000000 0.002336 2 0 1 0 0 0 1 0 0 4084 228 428 142 238 446 2142 372 88 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 2655 Exomes transition T C T>C 0.000 -2.135 255 PASS . . . . . . . . . . . . . . . . 0.46212122 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||INTS1|mRNA|CODING|NM_001080453|) . . . . . . . -0.3791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.07 0.12 182 ENSG00000164880 INTS1 INTS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80163046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0023 0 0 0 0.0005 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80163046 rs80163046 1 1538 10 1/0 0,244,255 +rs79178284 7 1528947 T C - INTS1 24555 Integrator complex subunit 1 NM_001080453.2 -1 6974 6573 NP_001073922.2 Q8N201 substitution intron GRCh37 1528947 1528947 Chr7(GRCh37):g.1528947T>C 2318+33 2318+33 NM_001080453.2:c.2318+33A>G p.? p.? 18 18 611345 33 5' 83.5016 9.09532 0.97749 11.0363 83.5016 9.09532 0.97749 XI.26 0 rs79178284 yes no Frequency/1000G 2 T 0.000000 0 transition A G A>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.43165466 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||INTS1|mRNA|CODING|NM_001080453|) . . . . . . . 0.0634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.07 182 ENSG00000164880 INTS1 INTS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79178284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79178284 rs79178284 1 1538 10 1/0 0,241,255 +rs373942205 7 1586752 C T - TMEM184A 28797 Transmembrane protein 184A NM_001097620.1 -1 6276 1242 NP_001091089.1 Q6ZMB5 substitution missense exon GRCh37 1586752 1586752 Chr7(GRCh37):g.1586752C>T 1078 1078 NM_001097620.1:c.1078G>A p.Val360Met p.Val360Met 9 66 3' 76.0836 7.03507 0.578218 IV.55 76.0836 7.03507 0.578218 4.456 0 rs373942205 yes no Frequency 1 C 0.000000 0 0.000071 0.000000 0.000060 0.000103 0.000000 0.000000 0.000121 0.000048 0.000000 0.000121 17 0 2 1 0 0 13 1 0 240036 15034 33490 9728 17176 30724 107832 20678 5374 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 2 1 0 0 13 1 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes 8598 4400 12998 2 0 2 0.000232558 0 0.000153846 0.000232558 0 0.000153846 42 transition G A G>A 1.000 6.016 V Val GTG 0.468 M Met ATG 1.000 360 12 9 Tetraodon 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 28.68 0.00 Tolerated 0.3 III.36 good 7.385E-2 0.02138 255 PASS . . . . . . . . . . . ENSG00000164855:ENST00000297477:exon9:c.G1078A:p.V360M . TMEM184A:NM_001097620:exon9:c.G1078A:p.V360M . . 0.38235295 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.738 . @ . . . . . 1 0.884 . . 68.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.3723 0.455 0.372 c . . . . . 7.934e-05 . . . 0 5.767e-05 0 0 0 0.0001 0 0 0 8.626e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.803 @ . . . 0.41 0.41 182 ENSG00000164855 TMEM184A TMEM184A . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.528 0.030 . . 37 . 0.356 . . 0.051 . . . 0.311 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.037 . . 0 0 0 0 0 0 . 0.470 . . 0.424 . . . . . . 1 0.121 . . . . . 0.941 . 0.728 . HET 0.37 rs373942205 . . . . . . . . . . . . 19.3072 0.0 ENST00000297477 V.47 V.47 . 0.400000 Q6ZMB5 . . . 0.000154 . 0.567 . . V.47 0 7.082e-05 5.972e-05 0.0001 0 4.836e-05 0.0001 0 0 . . . . . . . . . . 0.326 . 2.566 2.566000 . . 0.400000 . . 1.0E-255 1.000 0.715 . 0.544 0.992 . 0.693 . 0.434 2.566 0.868 0.0002 . . rs373942205 rs373942205 1 1538 10 1/0 0,255,255 +rs7778352 7 2582153 C T - BRAT1 21701 BRCA1 associated ATM activator 1 NM_001350626.1 -1 3193 2646 NP_001337555.1 substitution intron GRCh37 2582153 2582153 Chr7(GRCh37):g.2582153C>T 924-308 924-308 NM_001350626.1:c.924-308G>A p.? p.? 7 6 614506 -308 3' 82.4102 7.09518 0.744802 0 82.4102 7.09518 0.744802 0 0 rs7778352 yes no Frequency/1000G 2 C 0.000000 0 0.000065 0.000116 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000116 2 1 0 0 0 0 1 0 0 30750 8646 838 302 1620 0 14884 3486 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.055 0.448 254 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||BRAT1|mRNA|CODING|NM_152743|) . . . . . . . -0.1713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5\x3bUTR3 intronic . . . @ . . . 0.23 0.07 182 ENSG00000106009 BRAT1\x3bBRAT1 BRAT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs7778352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.504e-05 0 0 0 0 6.719e-05 0 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . rs7778352 rs7778352 rs7778352 rs7778352 1 1538 10 1/0 0,233,255 +rs147708291 7 5172096 T C - ZNF890P 38691 Zinc finger protein 890, pseudogene NR_034163.1 -1 1614 0 substitution exon GRCh37 5172096 5172096 Chr7(GRCh37):g.5172096T>C 460 460 NR_034163.1:n.460A>G 3 -18 5' 95.6376 X.36 0.995285 8.19232 95.6376 X.36 0.995285 8.41435 0 rs147708291 yes no Frequency/1000G 2 C 0.000000 0 0.339257 0.437200 0.446800 0.170600 0.302200 0.299700 transition A G A>G 0.000 -0.602 255 PASS . . . . . 0.44 0.34 0.3 0.17 0.3 0.45 . ZNF890P:uc010ksu.1:exon1:c.A41G:p.K14R . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 21.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R154G|ZNF890P|Non-coding_transcript|NON_CODING|NR_034163|NR_034163.ex.3) . . . . . . . -0.4015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.3393 . . . 0.38 0.34 182 ENSG00000159904 ZNF890P ZNF890P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147708291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs147708291 rs147708291 1 1538 10 1/0 0,255,255 +rs149016496 7 5172098 C T - ZNF890P 38691 Zinc finger protein 890, pseudogene NR_034163.1 -1 1614 0 substitution exon GRCh37 5172098 5172098 Chr7(GRCh37):g.5172098C>T 458 458 NR_034163.1:n.458G>A 3 -20 5' 95.6376 X.36 0.995285 8.19232 95.6376 X.36 0.995285 7.89391 0 rs149016496 yes no Frequency/1000G 2 T 0.000000 0 0.339257 0.437200 0.446800 0.170600 0.302200 0.299700 transition G A G>A 0.000 -0.763 255 PASS . . . . . 0.44 0.34 0.3 0.17 0.3 0.45 . ZNF890P:uc010ksu.1:exon1:c.G39A:p.E13E . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 21.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R153K|ZNF890P|Non-coding_transcript|NON_CODING|NR_034163|NR_034163.ex.3) . . . . . . . -0.3614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.3393 . . . 0.29 0.24 182 ENSG00000159904 ZNF890P ZNF890P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149016496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149016496 rs149016496 1 1538 10 1/0 0,255,255 +rs141199192 7 5172099 T G - ZNF890P 38691 Zinc finger protein 890, pseudogene NR_034163.1 -1 1614 0 substitution exon GRCh37 5172099 5172099 Chr7(GRCh37):g.5172099T>G 457 457 NR_034163.1:n.457A>C 3 -21 5' 95.6376 X.36 0.995285 8.19232 95.6376 X.36 0.995285 8.41566 0 rs141199192 yes no Frequency/1000G 2 G 0.000000 0 0.339257 0.437200 0.446800 0.170600 0.302200 0.299700 transversion A C A>C 0.000 -0.117 255 PASS . . . . . 0.44 0.34 0.3 0.17 0.3 0.45 . ZNF890P:uc010ksu.1:exon1:c.A38C:p.E13A . . . 0.4090909 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . SYNONYMOUS_CODING(LOW|SILENT|Aga/Cga|R153|ZNF890P|Non-coding_transcript|NON_CODING|NR_034163|NR_034163.ex.3) . . . . . . . -0.2462 . . . . . . . . 5.901e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.3393 . . . 0.41 0.36 182 ENSG00000159904 ZNF890P ZNF890P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141199192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141199192 rs141199192 1 1538 10 1/0 0,255,255 +rs765534703 7 5399082 C A - TNRC18 11962 Trinucleotide repeat containing 18 NM_001080495.2 -1 10572 8907 NP_001073964.2 O15417 substitution missense exon GRCh37 5399082 5399082 Chr7(GRCh37):g.5399082C>A 4780 4780 NM_001080495.2:c.4780G>T p.Gly1594Trp p.Gly1594Trp 15 -54 5' 95.6376 X.36 0.995518 X.27 95.6376 X.36 0.995518 X.17 0 New Donor Site 5399084 2.57415 0.099743 68.3867 rs765534703 yes no Frequency 1 C 0.000000 0 0.000339 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.003373 0.000155 0.003373 94 0 0 0 0 0 6 87 1 277214 24018 34420 10152 18868 30782 126726 25792 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 94 0 0 0 0 0 6 87 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.992 1.981 G Gly GGG 0.250 W Trp TGG 1.000 1594 11 7 Platypus -2 -2 -6 0.74 0.13 9 5.IV 3 170 184 C0 242.39 77.87 Deleterious 0.01 III.54 good 5.318E-2 0.1934 255 PASS . . . . . . . . . . . . TNRC18:uc003soi.4:exon15:c.G4780T:p.G1594W TNRC18:NM_001080495:exon15:c.G4780T:p.G1594W . . 0.4920635 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.761 . @ . . . . . 1 0.755 . . 63.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Tgg|G1594W|TNRC18|mRNA|CODING|NM_001080495|NM_001080495.ex.15) . . . . . . . 0.4509 0.394 0.451 c . . . . . 2.475e-04 . . . 0 0.0002 0 0 0.0045 2.373e-05 0 0 0 0.0002 0 0 0.0033 5.52e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.481 . . exonic exonic exonic . . 0.572 @ . . . . . . ENSG00000182095 TNRC18 TNRC18 . . . 0.977 0.298 . 17 0.000261635 64976 16 0.000266729 59986 Uncertain_significance . 0 . 0.290 . . . . D 0.569 0.036 . . 37 . 0.615 . . 0.570 . . . 0.450 0.245 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.805 . . 0 0 0 0 0 0 . 0.647 . . 0.627 . . . . . . 0 0.784 . . . . . 0.512 . 0.415 . HET 0 rs765534703 . . . . . . . . . . . . XI.32 . . V.53 IV.64 . 0.000000 O15417 . . . . . 0.562 . . IV.64 0 0.0004 0 0 0 0.0038 3.581e-05 0.0002 0 0 0.0002 0 0 0 0.0009 0.0001 0 . . 0.730 . 1.304 1.304000 . . 0.000000 . . 1.0E-255 0.999 0.424 . 0.494 0.141 . 0.405 . 0.182 1.304 0.008 . . . . . 1 1538 10 1/0 0,255,255 +rs76586797 7 5402556 C A - TNRC18 11962 Trinucleotide repeat containing 18 NM_001080495.2 -1 10572 8907 NP_001073964.2 O15417 substitution intron GRCh37 5402556 5402556 Chr7(GRCh37):g.5402556C>A 4220-100 4220-100 NM_001080495.2:c.4220-100G>T p.? p.? 12 11 -100 3' 83.7957 XI.26 0.976078 XII.24 83.7957 XI.26 0.976078 XII.24 0 rs76586797 yes no Frequency/1000G 2 C 0.000000 0 0.019768 0.000000 0.005100 0.089300 0.003000 0.001400 0.006102 0.000229 0.000000 0.000000 0.085909 0.000000 0.002599 0.001718 0.003055 0.085909 189 2 0 0 139 0 39 6 3 30974 8734 838 302 1618 0 15008 3492 982 0.031746 0.000000 0.000000 0.000000 0.043165 0.000000 0.000000 0.000000 0.000000 6 0 0 0 6 0 0 0 0 177 2 0 0 127 0 39 6 3 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transversion G T G>T 0.000 -1.974 233 PASS . 0.03 0.01 0.1 0.0013 . 0.02 0.0014 0.089 0.003 0.0051 . . . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . INTRON(MODIFIER||||TNRC18|mRNA|CODING|NM_001080495|) . . . . . . . -0.4851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0198 . . . 0.26 0.11 182 ENSG00000182095 TNRC18 TNRC18 . . . . . . 189 0.00290877 64976 96 0.00160037 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76586797 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0061 0 0 0.0859 0.0017 0.0026 0.0031 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . 0.1 . . rs76586797 rs76586797 1 1538 10 1/0 0,255,255 +rs77641055 7 5434011 C T - TNRC18 11962 Trinucleotide repeat containing 18 NM_001080495.2 -1 10572 8907 NP_001073964.2 O15417 substitution intron GRCh37 5434011 5434011 Chr7(GRCh37):g.5434011C>T 343+60 343+60 NM_001080495.2:c.343+60G>A p.? p.? 3 3 60 5' 94.6745 X.23 0.997987 XII.66 94.6745 X.23 0.997987 XII.11 0 rs77641055 yes no Frequency/1000G 2 C 0.000000 0 0.029553 0.000000 0.007200 0.135900 0.003000 0.001400 0.009119 0.000803 0.001193 0.000000 0.136757 0.000000 0.002938 0.002003 0.002041 0.136757 282 7 1 0 221 0 44 7 2 30926 8718 838 302 1616 0 14978 3494 980 0.063830 0.000000 0.000000 0.000000 0.081448 0.000000 0.000000 0.000000 0.000000 18 0 0 0 18 0 0 0 0 246 7 1 0 185 0 44 7 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 0.851 255 PASS . 0.04 . 0.16 0.004 . 0.03 0.0014 0.14 0.003 0.0072 . . . . . 0.5 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||TNRC18|mRNA|CODING|NM_001080495|) . . . . . . . 0.2342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0296 . . . 0.25 0.25 182 ENSG00000182095 TNRC18 TNRC18 . . . . . . 269 0.00413999 64976 122 0.00203381 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77641055 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . II.19 . . . . . . . . . 0.0008 0.0091 0.0012 0 0.1368 0.0020 0.0029 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs77641055 rs77641055 1 1538 10 1/0 0,255,255 +rs199575986 7 5569082 G A - ACTB 132 Actin beta NM_001101.4 -1 1922 1128 NP_001092.1 P60709 substitution intron GRCh37 5569082 5569082 Chr7(GRCh37):g.5569082G>A 124-51 124-51 NM_001101.4:c.124-51C>T p.? p.? 3 2 102630 -51 3' 90.9436 XI.22 0.987639 X.92 90.9436 XI.22 0.987639 X.54 0 rs199575986 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000471 0.000000 0.000029 0.000395 0.000743 0.000000 0.000190 0.003334 0.000155 0.003334 130 0 1 4 14 0 24 86 1 276298 23880 34404 10118 18854 30778 126022 25792 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 130 0 1 4 14 0 24 86 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -2.942 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.597561 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.1534 . . . . . . . . 3.870e-04 . . . 0.0001 0.0003 8.663e-05 0.0009 0.0042 0.0002 0 0 0 0.0004 8.921e-05 0.0009 0.0032 0.0002 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.34 0.28 182 ENSG00000075624 ACTB ACTB . . . . . . 21 0.000323196 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199575986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 2.979e-05 0.0004 0.0008 0.0037 0.0001 0.0002 0 0 0.0004 0 0 0 0.0009 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199575986 rs199575986 1 1538 10 1/0 0,255,255 +rs570729626 7 5751301 G A - MIR6874 50146 MicroRNA 6874 NR_106934.1 -1 71 0 substitution downstream GRCh37 5751301 5751301 Chr7(GRCh37):g.5751301G>A *170 *170 NR_106934.1:n.*170C>T p.? p.? 1 rs570729626 yes no Frequency/1000G 2 G 0.000799 A 4 0.000799 0.000000 0.002000 0.000000 0.002000 0.000000 0.000258 0.000000 0.000000 0.000000 0.000000 0.000000 0.000266 0.000859 0.001018 0.000859 8 0 0 0 0 0 4 3 1 30976 8730 838 302 1620 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 4 3 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.924 242 PASS . . . . . . 0.0008 . . 0.002 0.002 . . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.1374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . . . . ENSG00000011275 RNF216 RNF216 . . . . . . 21 0.000323196 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs570729626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0.0009 0.0003 0.0010 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs570729626 7 5751301 G A - RNF216 21698 Ring finger protein 216 NM_207111.3 -1 5850 2772 NP_996994.1 substitution intron GRCh37 5751301 5751301 Chr7(GRCh37):g.5751301G>A 2061+91 2061+91 NM_207111.3:c.2061+91C>T p.? p.? 13 13 609948 91 5' 84.5939 VIII.53 0.935654 3.65061 84.5939 VIII.53 0.935654 3.65061 0 rs570729626 yes no Frequency/1000G 2 G 0.000799 A 4 0.000799 0.000000 0.002000 0.000000 0.002000 0.000000 0.000258 0.000000 0.000000 0.000000 0.000000 0.000000 0.000266 0.000859 0.001018 0.000859 8 0 0 0 0 0 4 3 1 30976 8730 838 302 1620 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 4 3 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.924 242 PASS . . . . . . 0.0008 . . 0.002 0.002 . . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.1374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . . . . ENSG00000011275 RNF216 RNF216 . . . . . . 21 0.000323196 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs570729626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0.0009 0.0003 0.0010 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2711245 (chr7:5998609 G/A) 7 5998609 G A Not on a known gene +rs200394640 7 6820999 G A - RSPH10B 27362 Radial spoke head 10 homolog B (Chlamydomonas) NM_173565.3 1 3106 2613 NP_775836.3 P0C881 substitution missense exon GRCh37 6820999 6820999 Chr7(GRCh37):g.6820999G>A 1650 1650 NM_173565.3:c.1650G>A p.Met550Ile p.Met550Ile 15 41 3' 84.5141 6.28343 0.74904 3.77551 84.5141 6.28343 0.74904 3.13554 0 Cryptic Acceptor Strongly Activated 6821002 3.7e-05 70.3724 1.18273 0.00332 71.227 rs200394640 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.003000 0.004100 0.006000 0.006000 0.007200 0.000993 0.001184 0.001175 0.000168 0.000074 0.001109 0.000964 0.001303 0.002215 0.001303 185 20 22 1 1 15 89 27 10 186224 16890 18728 5938 13588 13524 92326 20716 4514 0.000516 0.000829 0.000534 0.000000 0.000000 0.000739 0.000498 0.000483 0.001329 48 7 5 0 0 5 23 5 3 89 6 12 1 1 5 43 17 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3774295|COSM3774295|COSM3774296|COSM3774296 Kidney|Haematopoietic and lymphoid tissue|Kidney|Haematopoietic and lymphoid tissue 0.000578|0.000283|0.000578|0.000283 1729|3530|1729|3530 transition G A G>A 0.787 1.174 M Met ATG 1.000 I Ile ATA 0.163 550 11 7 Chicken 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.22 III.43 good 8.996E-2 0.0003369 188 PASS 0.05 0.07 0.08 0.04 0.11 0.003 0.005 0.0072 0.006 0.006 0.0041 . . . . . 0.13114753 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.167 . @ . . . . . 1 0.081 . . 122.0 . . . . . . . . . . -0.4812 -0.474 -0.481 c . . . . . 1.237e-03 . . . 0.0013 0.0015 0.0022 0 0.0017 0.0016 0 0.0013 0.0016 0.0013 0.0022 0 0.0018 0.0013 0 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.524 . . exonic exonic exonic . . 0.376 0.0050 . . . 0.35 0.69 182 ENSG00000169402 RSPH10B2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.441 . . . . T 0.085 0.004 . . 37 . 0.009 . . 0.028 . . . 0.498 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.222 . . 0.173 . . . . . . 0 0.312 . . . . . 0.303 . 0.378 . LowAF 0.19 rs200394640 . . . . . . . 0.07417582417582418 0.052845528455284556 0.08287292817679558 0.04020979020979021 0.10949868073878628 8.1868 0.001068 . III.38 III.38 . 0.150000 . . . . . . 0.335 . . III.38 0.0010 0.0010 0.0012 0.0002 7.963e-05 0.0013 0.0011 0.0024 0.0011 0.0015 0.0008 0 0 0 0.0014 0.0003 0.0014 . . 0.133 . 1.928 1.928000 . . 0.150000 . . 1.0E-188 0.909 0.314 . 0.214 0.678 . 0.218 . 0.296 1.928 0.609 0.11 rs17853305 rs17853305 rs17853305 rs17853305 1 1538 10 1/0 0,220,255 +rs200394640 7 6820999 G A - RSPH10B2 34385 Radial spoke head 10 homolog B2 (Chlamydomonas) NM_001099697.1 1 3106 2613 NP_001093167.1 B2RC85 substitution missense exon GRCh37 6820999 6820999 Chr7(GRCh37):g.6820999G>A 1650 1650 NM_001099697.1:c.1650G>A p.Met550Ile p.Met550Ile 15 41 3' 84.5141 6.28343 0.74904 3.77551 84.5141 6.28343 0.74904 3.13554 0 Cryptic Acceptor Strongly Activated 6821002 3.7e-05 70.3724 1.18273 0.00332 71.227 rs200394640 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.003000 0.004100 0.006000 0.006000 0.007200 0.000993 0.001184 0.001175 0.000168 0.000074 0.001109 0.000964 0.001303 0.002215 0.001303 185 20 22 1 1 15 89 27 10 186224 16890 18728 5938 13588 13524 92326 20716 4514 0.000516 0.000829 0.000534 0.000000 0.000000 0.000739 0.000498 0.000483 0.001329 48 7 5 0 0 5 23 5 3 89 6 12 1 1 5 43 17 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3774295|COSM3774295|COSM3774296|COSM3774296 Kidney|Haematopoietic and lymphoid tissue|Kidney|Haematopoietic and lymphoid tissue 0.000578|0.000283|0.000578|0.000283 1729|3530|1729|3530 transition G A G>A 0.787 1.174 M Met ATG 1.000 I Ile ATA 0.163 550 12 8 Chicken 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.21 III.44 good 1.041E-1 0.0003461 188 PASS 0.05 0.07 0.08 0.04 0.11 0.003 0.005 0.0072 0.006 0.006 0.0041 . . . . . 0.13114753 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.167 . @ . . . . . 1 0.081 . . 122.0 . . . . . . . . . . -0.4812 -0.474 -0.481 c . . . . . 1.237e-03 . . . 0.0013 0.0015 0.0022 0 0.0017 0.0016 0 0.0013 0.0016 0.0013 0.0022 0 0.0018 0.0013 0 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.524 . . exonic exonic exonic . . 0.376 0.0050 . . . 0.35 0.69 182 ENSG00000169402 RSPH10B2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.441 . . . . T 0.085 0.004 . . 37 . 0.009 . . 0.028 . . . 0.498 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.222 . . 0.173 . . . . . . 0 0.312 . . . . . 0.303 . 0.378 . LowAF 0.19 rs200394640 . . . . . . . 0.07417582417582418 0.052845528455284556 0.08287292817679558 0.04020979020979021 0.10949868073878628 8.1868 0.001068 . III.38 III.38 . 0.150000 . . . . . . 0.335 . . III.38 0.0010 0.0010 0.0012 0.0002 7.963e-05 0.0013 0.0011 0.0024 0.0011 0.0015 0.0008 0 0 0 0.0014 0.0003 0.0014 . . 0.133 . 1.928 1.928000 . . 0.150000 . . 1.0E-188 0.909 0.314 . 0.214 0.678 . 0.218 . 0.296 1.928 0.609 0.11 rs17853305 rs17853305 rs17853305 rs17853305 1 1538 10 1/0 0,220,255 +rs201457485 7 6838885 C T - CCZ1B 21717 CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) NM_198097.3 -1 1836 1449 NP_932765.1 P86791 substitution synonymous exon GRCh37 6838885 6838885 Chr7(GRCh37):g.6838885C>T 1419 1419 NM_198097.3:c.1419G>A p.Thr473= p.Thr473Thr 15 26 3' 88.1133 9.64913 0.442005 9.54779 88.1133 9.64913 0.442005 9.18958 0 Protein of unknown function DUF1712, fungi rs201457485 yes no Frequency/1000G 2 0.000000 0 0.018371 0.002300 0.026600 0.006000 0.022900 0.049000 0.005570 0.001351 0.026026 0.005536 0.003049 0.012234 0.002866 0.003169 0.007426 0.026026 696 12 288 22 30 85 189 49 21 124956 8884 11066 3974 9838 6948 65954 15464 2828 0.001437 0.000000 0.003472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 694 12 286 22 30 85 189 49 21 0 0 0 0 0 0 0 0 0 RF 51 Exomes 7614 3422 11036 52 10 62 0.0067832 0.00291375 0.00558659 0.0067832 0.00291375 0.00558659 15 transition G A G>A 0.984 -0.279 T Thr ACG 0.116 T Thr ACA 0.280 473 213 PASS 0.01 0.03 0.06 0.01 0.06 0.0023 0.018 0.049 0.006 0.023 0.027 . . CCZ1B:NM_198097:exon15:c.G1419A:p.T473T . . 0.19402985 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . 0.0029 0.0056 0.0068 0.0029 0.0056 0.0068 . 0.4418 . . . . . . . . 1.316e-03 . . . 0.0003 0.0015 0.0016 0.0016 0.0005 0.0017 0.0038 0.0020 0 0.0008 0.0017 0.0021 0.0006 0.0005 0.0043 0.0020 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0184 . . . 0.46 0.62 182 ENSG00000146574 CCZ1B CCZ1B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201457485 . . . . . . . . . . . . . . . . . . . . . . . 0.005587 . . . . . 0.0014 0.0056 0.0260 0.0055 0.0030 0.0032 0.0029 0.0074 0.0122 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.06 rs1061428 rs1061428 rs1061428 rs1061428 1 1538 10 1/0 0,252,255 +rs201457485 7 6838885 C T - RSPH10B 27362 Radial spoke head 10 homolog B (Chlamydomonas) NM_173565.3 1 3106 2613 NP_775836.3 P0C881 substitution downstream GRCh37 6838885 6838885 Chr7(GRCh37):g.6838885C>T *711 *711 NM_173565.3:c.*711C>T p.? p.? 21 892 3' 85.9681 9.96888 0.986836 X.86 85.9681 9.96888 0.986836 X.86 0 Cryptic Acceptor Strongly Activated 6838897 I.17 5.3e-05 62.6818 3.09836 0.00011 65.9965 rs201457485 yes no Frequency/1000G 2 0.000000 0 0.018371 0.002300 0.026600 0.006000 0.022900 0.049000 0.005570 0.001351 0.026026 0.005536 0.003049 0.012234 0.002866 0.003169 0.007426 0.026026 696 12 288 22 30 85 189 49 21 124956 8884 11066 3974 9838 6948 65954 15464 2828 0.001437 0.000000 0.003472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 694 12 286 22 30 85 189 49 21 0 0 0 0 0 0 0 0 0 RF 51 Exomes 7614 3422 11036 52 10 62 0.0067832 0.00291375 0.00558659 0.0067832 0.00291375 0.00558659 15 transition C T C>T 0.984 -0.279 213 PASS 0.01 0.03 0.06 0.01 0.06 0.0023 0.018 0.049 0.006 0.023 0.027 . . CCZ1B:NM_198097:exon15:c.G1419A:p.T473T . . 0.19402985 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . 0.0029 0.0056 0.0068 0.0029 0.0056 0.0068 . 0.4418 . . . . . . . . 1.316e-03 . . . 0.0003 0.0015 0.0016 0.0016 0.0005 0.0017 0.0038 0.0020 0 0.0008 0.0017 0.0021 0.0006 0.0005 0.0043 0.0020 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0184 . . . 0.46 0.62 182 ENSG00000146574 CCZ1B CCZ1B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201457485 . . . . . . . . . . . . . . . . . . . . . . . 0.005587 . . . . . 0.0014 0.0056 0.0260 0.0055 0.0030 0.0032 0.0029 0.0074 0.0122 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.06 rs1061428 rs1061428 rs1061428 rs1061428 1 1538 10 1/0 0,252,255 +rs201457485 7 6838885 C T - RSPH10B2 34385 Radial spoke head 10 homolog B2 (Chlamydomonas) NM_001099697.1 1 3106 2613 NP_001093167.1 B2RC85 substitution downstream GRCh37 6838885 6838885 Chr7(GRCh37):g.6838885C>T *711 *711 NM_001099697.1:c.*711C>T p.? p.? 21 892 3' 85.9681 9.96888 0.987965 10.0999 85.9681 9.96888 0.987965 10.0999 0 Cryptic Acceptor Strongly Activated 6838897 I.17 5.3e-05 62.6818 3.09836 0.00011 65.9965 rs201457485 yes no Frequency/1000G 2 0.000000 0 0.018371 0.002300 0.026600 0.006000 0.022900 0.049000 0.005570 0.001351 0.026026 0.005536 0.003049 0.012234 0.002866 0.003169 0.007426 0.026026 696 12 288 22 30 85 189 49 21 124956 8884 11066 3974 9838 6948 65954 15464 2828 0.001437 0.000000 0.003472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 694 12 286 22 30 85 189 49 21 0 0 0 0 0 0 0 0 0 RF 51 Exomes 7614 3422 11036 52 10 62 0.0067832 0.00291375 0.00558659 0.0067832 0.00291375 0.00558659 15 transition C T C>T 0.984 -0.279 213 PASS 0.01 0.03 0.06 0.01 0.06 0.0023 0.018 0.049 0.006 0.023 0.027 . . CCZ1B:NM_198097:exon15:c.G1419A:p.T473T . . 0.19402985 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . 0.0029 0.0056 0.0068 0.0029 0.0056 0.0068 . 0.4418 . . . . . . . . 1.316e-03 . . . 0.0003 0.0015 0.0016 0.0016 0.0005 0.0017 0.0038 0.0020 0 0.0008 0.0017 0.0021 0.0006 0.0005 0.0043 0.0020 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0184 . . . 0.46 0.62 182 ENSG00000146574 CCZ1B CCZ1B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201457485 . . . . . . . . . . . . . . . . . . . . . . . 0.005587 . . . . . 0.0014 0.0056 0.0260 0.0055 0.0030 0.0032 0.0029 0.0074 0.0122 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.06 rs1061428 rs1061428 rs1061428 rs1061428 1 1538 10 1/0 0,252,255 +rs201214899 (chr7:6958187 A/G) 7 6958187 A G Not on a known gene +rs61739528 7 7420095 G A - COL28A1 22442 Collagen, type XXVIII, alpha 1 NM_001037763.2 -1 3515 3378 NP_001032852.2 Q2UY09 substitution intron GRCh37 7420095 7420095 Chr7(GRCh37):g.7420095G>A 2322+196 2322+196 NM_001037763.2:c.2322+196C>T p.? p.? 30 30 609996 196 5' 74.2807 8.34018 0.872135 0 74.2807 8.34018 0.872135 0 0 rs61739528 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.006100 0.000000 0.003000 0.004300 0.003004 0.001376 0.001193 0.000000 0.000618 0.000000 0.005065 0.000572 0.001020 0.005065 93 12 1 0 1 0 76 2 1 30958 8720 838 302 1618 0 15006 3494 980 0.010753 0.000000 0.000000 0.000000 0.000000 0.000000 0.013158 0.000000 0.000000 1 0 0 0 0 0 1 0 0 91 12 1 0 1 0 74 2 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.000 0.044 255 PASS . 0.0014 . . 0.004 . 0.0024 0.0043 . 0.003 0.0061 . . . . . 0.44444445 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . INTRON(MODIFIER||||COL28A1|mRNA|CODING|NM_001037763|) . . . . . . . -0.0441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.31 0.4 182 ENSG00000215018 COL28A1 COL28A1 . . . . . . 413 0.00635619 64976 400 0.00666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61739528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0030 0.0012 0 0.0006 0.0006 0.0051 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs61739528 rs61739528 1 1538 10 1/0 0,255,255 +rs202213416 7 7421223 G A - COL28A1 22442 Collagen, type XXVIII, alpha 1 NM_001037763.2 -1 3515 3378 NP_001032852.2 Q2UY09 substitution synonymous exon GRCh37 7421223 7421223 Chr7(GRCh37):g.7421223G>A 2157 2157 NM_001037763.2:c.2157C>T p.Gly719= p.Gly719Gly 28 609996 21 3' 78.7273 7.70478 0.879549 5.61332 78.7273 7.70478 0.879549 5.58638 0 Collagen triple helix repeat rs202213416 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001429 0.000541 0.000058 0.000788 0.000000 0.000065 0.002763 0.000388 0.001703 0.002763 396 13 2 8 0 2 350 10 11 277132 24010 34408 10150 18858 30780 126676 25792 6458 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 394 13 2 8 0 2 348 10 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8188 3743 11931 22 1 23 0.00267966 0.000267094 0.00192404 0.00267966 0.000267094 0.00192404 197 transition C T C>T 0.000 -0.602 G Gly GGC 0.342 G Gly GGT 0.162 719 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . ENSG00000215018:ENST00000399429:exon28:c.C2157T:p.G719G . COL28A1:NM_001037763:exon28:c.C2157T:p.G719G . . 0.3943662 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G719|COL28A1|mRNA|CODING|NM_001037763|NM_001037763.ex.28) 0.0003 0.0019 0.0027 0.0003 0.0019 0.0027 . 0.6898 . . . . . . . . 1.614e-03 . . . 0.0003 0.0013 0.0002 0 0.0011 0.0025 0 0.0001 0.0004 0.0015 0.0002 0 0.0006 0.0027 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.12 0.27 182 ENSG00000215018 COL28A1 COL28A1 . . . . . . 194 0.00298572 64976 193 0.00321742 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202213416 . . . . . . . . . . . . . . . . . . . . . . . 0.001924 . . . . . 0.0005 0.0014 5.958e-05 0.0008 0 0.0004 0.0028 0.0018 6.498e-05 0.0006 0.0013 0 0 0 0.0003 0.0022 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0027 . . rs202213416 rs202213416 1 1538 10 1/0 0,255,255 +rs141375846 7 12610362 G A - SCIN 21695 Scinderin NM_001112706.2 1 3246 2148 NP_001106177.1 Q9Y6U3 substitution 5'UTR GRCh37 12610362 12610362 Chr7(GRCh37):g.12610362G>A -51 -51 NM_001112706.2:c.-51G>A p.? p.? 1 613416 -250 5' 81.9389 X.11 0.983655 13.0474 81.9389 X.11 0.983655 13.0474 0 Cryptic Acceptor Strongly Activated 12610369 0.145721 2.53857 0.121272 68.2616 rs141375846 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000800 0.000000 0.000000 0.007000 0.000000 0.006963 0.000829 0.001391 0.019211 0.000000 0.000549 0.005004 0.039121 0.009319 0.039121 1179 13 34 152 0 12 341 584 43 169330 15690 24440 7912 11756 21842 68148 14928 4614 0.000142 0.000000 0.000000 0.000253 0.000000 0.000000 0.000000 0.001474 0.000000 12 0 0 1 0 0 0 11 0 1155 13 34 150 0 12 341 562 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.117 255 PASS . . . . . 0.0008 0.0016 . . 0.007 . . BC075797:uc003ssl.1:exon2:c.G267A:p.X89X . . . 0.4 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . UTR_5_PRIME(MODIFIER||||SCIN|mRNA|CODING|NM_001112706|NM_001112706.ex.1) . . . . . . . 0.4199 . . . . . . . . 6.064e-03 . . . 0.0029 0.0053 0 0 0.0455 0.0124 0.0082 0.0007 0.0036 0.0045 0 0 0.0455 0.0154 0 0.0007 . synonymous_SNV . . . . ncRNA_exonic exonic UTR5 . . . 0.0016 . . . 0.46 0.4 182 ENSG00000225606 BC075797 SCIN . . NM_001112706:c.-51G>A . . . 393 0.00604839 64976 386 0.00643483 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141375846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0066 0.0014 0.0193 0 0.0396 0.0044 0.0069 0.0005 0.0008 0.0087 0.0024 0.0166 0 0.0375 0.0071 0.0184 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 7 14797181 A ACA - DGKB 2850 Diacylglycerol kinase beta NM_001350705.1 -1 7212 2415 NP_001337634.1 Q9Y6T7 duplication intron GRCh37 14797180 14797181 Chr7(GRCh37):g.14797181_14797182dup 147+98 147+99 NM_001350705.1:c.147+98_147+99dup p.? p.? 3 3 604070 99 5' 70.5041 2.55694 0.376479 0 70.5041 2.55694 0.376479 0 0 New Donor Site 14797181 3.29971 0.062733 64.1225 rs147706722 yes no Frequency/1000G 2 0.316294 AC 1584 0.316294 0.495500 0.232100 0.357100 0.130200 0.304000 0.255183 0.469428 0.289474 0.131757 0.351334 0.000000 0.152526 0.134767 0.190928 0.469428 7730 4023 231 39 553 0 2258 445 181 30292 8570 798 296 1574 0 14804 3302 948 0.161578 0.228934 0.116883 0.051282 0.159132 0.000000 0.075288 0.058427 0.082873 1249 921 27 2 88 0 170 26 15 5229 2178 177 35 377 0 1918 393 151 0 0 0 0 0 0 0 0 0 PASS 37 Genomes GT 255 Pass . . . . . . . . . . . . . . . . 0.9375 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000136267 DGKB DGKB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv887712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74352324 rs74352324 1 1538 10 1.I 0,3,3 +. 7 15601409 T TAA - AGMO 33784 Alkylglycerol monooxygenase NM_001004320.1 -1 2475 1338 NP_001004320.1 Q6ZNB7 duplication frameshift exon GRCh37 15601409 15601410 Chr7(GRCh37):g.15601410_15601411dup 60 61 NM_001004320.1:c.60_61dup p.Tyr21Phefs*4 p.Tyr21Phefs*4 1 613738 -65 5' 90.0021 8.68007 0.99207 2.53426 90.0021 8.68007 0.99207 2.10702 0 rs370025027 yes no Frequency/1000G 2 0.001997 AA 10 0.001997 0.000800 0.000000 0.000000 0.007000 0.002900 0.004926 0.001129 0.002678 0.005033 0.000000 0.000784 0.005427 0.017026 0.006534 0.017026 1360 27 91 51 0 24 686 439 42 276080 23924 33980 10134 18806 30614 126410 25784 6428 0.000065 0.000000 0.000059 0.000000 0.000000 0.000000 0.000063 0.000155 0.000622 9 0 1 0 0 0 4 2 2 1342 27 89 51 0 24 678 435 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8222 4257 12479 32 7 39 0.00387691 0.00164165 0.00311551 0.00387691 0.00164165 0.00311551 126 COSM1683389 Large intestine 0.000450 2220 TT 255 Pass . . . . . 0.0008 0.002 0.0029 . 0.007 . ENSG00000187546:ENST00000342526:exon1:c.61_62insTT:p.Y21fs AGMO:uc003stb.1:exon1:c.61_62insTT:p.Y21fs AGMO:NM_001004320:exon1:c.61_62insTT:p.Y21fs . . 0.2923077 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 65 . . FRAME_SHIFT(HIGH||||AGMO|mRNA|CODING|NM_001004320|NM_001004320.ex.1) 0.0016 0.0031 0.0039 0.0016 0.0031 0.0039 . . . . . . . . . . 4.593e-03 . . . 0.0013 0.0037 0.0030 0 0.0163 0.0049 0.0042 0.0007 0.0012 0.0044 0.0030 0 0.0188 0.0052 0.0087 0.0006 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000187546 AGMO AGMO . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370025027 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv523199 0.003115 . . . . . 0.0012 0.0048 0.0027 0.0050 0 0.0173 0.0052 0.0064 0.0008 0.0010 0.0057 0.0036 0.0066 0 0.0152 0.0068 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0039 . . . . 1 1538 10 1.I 0,10,53 +. 7 17913083 A AC - SNX13 21335 Sorting nexin 13 NM_001350862.1 -1 6404 2907 NP_001337791.1 Q9Y5W8 duplication intron GRCh37 17913083 17913084 Chr7(GRCh37):g.17913084dup 753+67 753+67 NM_001350862.1:c.753+67dup p.? p.? 8 8 606589 67 5' 84.954 9.04032 0.995946 0 84.954 9.04032 0.995946 0 0 rs5882635 yes no Frequency/1000G 2 0.000000 0 0.999201 1.000000 1.000000 0.997000 0.999000 1.000000 0.999968 1.000000 1.000000 1.000000 0.999383 0.000000 1.000000 1.000000 1.000000 1.000000 30955 8732 838 302 1619 0 14996 3486 982 30956 8732 838 302 1620 0 14996 3486 982 0.499984 0.500000 0.500000 0.500000 0.499691 0.000000 0.500000 0.500000 0.500000 15477 4366 419 151 809 0 7498 1743 491 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes G 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.9459459 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . INTRON(MODIFIER||||SNX13|mRNA|CODING|NM_015132|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000071189 SNX13 SNX13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397740051 0.109 0.072 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830913 . . . . . . . . . . . . . . . 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs5882635 rs5882635 rs5882635 1 1538 10 1.I 0,2,2 +rs143520640 7 21941885 G T - CDCA7L 30777 Cell division cycle associated 7-like NM_018719.4 -1 2908 1365 NP_061189.2 Q96GN5 substitution 3'UTR GRCh37 21941885 21941885 Chr7(GRCh37):g.21941885G>T *55 *55 NM_018719.4:c.*55C>A p.? p.? 10 609685 86 3' 85.9477 7.11308 0.95188 7.85031 85.9477 7.11308 0.95188 7.85031 0 rs143520640 yes no Frequency/1000G 2 G 0.000000 0 0.014577 0.001500 0.028600 0.025800 0.011900 0.007200 0.008566 0.004374 0.010922 0.010345 0.021632 0.000000 0.009603 0.007075 0.011579 0.021632 259 38 9 3 35 0 139 24 11 30236 8688 824 290 1618 0 14474 3392 950 0.007722 0.000000 0.000000 0.000000 0.000000 0.000000 0.014388 0.000000 0.000000 2 0 0 0 0 0 2 0 0 255 38 9 3 35 0 135 24 11 0 0 0 0 0 0 0 0 0 PASS 44 Genomes 3152 1382 4534 30 2 32 0.00942803 0.00144509 0.00700832 0.00942803 0.00144509 0.00700832 225 transversion C A C>A 0.000 0.770 208 PASS . 0.01 0.01 0.02 0.01 0.0015 0.015 0.0072 0.026 0.012 0.029 . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . . 0.0014 0.007 0.0094 0.0014 0.007 0.0094 . 0.6395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0146 . . . 0.36 0.7 182 ENSG00000164649 CDCA7L CDCA7L . . . . . . 623 0.00958816 64976 551 0.00918548 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143520640 . . . . . . . . . . . . . . . . . . . . . . . 0.007008 . . . . III.21 . . . . . . . . . 0.0044 0.0086 0.0109 0.0103 0.0216 0.0071 0.0096 0.0116 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.02 . . rs143520640 rs143520640 1 1538 10 1/0 0,255,255 +rs143520640 7 21941885 G T - DNAH11 2942 Dynein, axonemal, heavy chain 11 NM_001277115.1 1 13896 13551 NP_001264044.1 substitution downstream GRCh37 21941885 21941885 Chr7(GRCh37):g.21941885G>T *1013 *1013 NM_001277115.1:c.*1013G>T p.? p.? 82 603339 1261 3' 87.5833 10.212 0.981762 6.12457 87.5833 10.212 0.981762 6.12457 0 rs143520640 yes no Frequency/1000G 2 G 0.000000 0 0.014577 0.001500 0.028600 0.025800 0.011900 0.007200 0.008566 0.004374 0.010922 0.010345 0.021632 0.000000 0.009603 0.007075 0.011579 0.021632 259 38 9 3 35 0 139 24 11 30236 8688 824 290 1618 0 14474 3392 950 0.007722 0.000000 0.000000 0.000000 0.000000 0.000000 0.014388 0.000000 0.000000 2 0 0 0 0 0 2 0 0 255 38 9 3 35 0 135 24 11 0 0 0 0 0 0 0 0 0 PASS 44 Genomes 3152 1382 4534 30 2 32 0.00942803 0.00144509 0.00700832 0.00942803 0.00144509 0.00700832 225 transversion G T G>T 0.000 0.770 208 PASS . 0.01 0.01 0.02 0.01 0.0015 0.015 0.0072 0.026 0.012 0.029 . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . . 0.0014 0.007 0.0094 0.0014 0.007 0.0094 . 0.6395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0146 . . . 0.36 0.7 182 ENSG00000164649 CDCA7L CDCA7L . . . . . . 623 0.00958816 64976 551 0.00918548 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143520640 . . . . . . . . . . . . . . . . . . . . . . . 0.007008 . . . . III.21 . . . . . . . . . 0.0044 0.0086 0.0109 0.0103 0.0216 0.0071 0.0096 0.0116 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.02 . . rs143520640 rs143520640 1 1538 10 1/0 0,255,255 +rs146658427 7 21941886 C T - CDCA7L 30777 Cell division cycle associated 7-like NM_018719.4 -1 2908 1365 NP_061189.2 Q96GN5 substitution 3'UTR GRCh37 21941886 21941886 Chr7(GRCh37):g.21941886C>T *54 *54 NM_018719.4:c.*54G>A p.? p.? 10 609685 85 3' 85.9477 7.11308 0.95188 7.85031 85.9477 7.11308 0.95188 7.85031 0 rs146658427 yes no Frequency/1000G 2 C 0.000000 0 0.014577 0.001500 0.028600 0.025800 0.011900 0.007200 0.008832 0.004375 0.010949 0.010417 0.021658 0.000000 0.009601 0.009440 0.011579 0.021658 267 38 9 3 35 0 139 32 11 30230 8686 822 288 1616 0 14478 3390 950 0.007491 0.000000 0.000000 0.000000 0.000000 0.000000 0.014388 0.000000 0.000000 2 0 0 0 0 0 2 0 0 263 38 9 3 35 0 135 32 11 0 0 0 0 0 0 0 0 0 PASS 44 Genomes 3153 1382 4535 29 2 31 0.00911376 0.00144509 0.00678931 0.00911376 0.00144509 0.00678931 230 transition G A G>A 0.000 1.255 213 PASS . 0.01 0.01 0.02 0.01 0.0015 0.015 0.0072 0.026 0.012 0.029 . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 25.0 . . . 0.0014 0.0068 0.0091 0.0014 0.0068 0.0091 . 0.6491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0146 . . . 0.41 0.73 182 ENSG00000164649 CDCA7L CDCA7L . . . . . . 633 0.00974206 64976 561 0.00935218 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146658427 . . . . . . . . . . . . . . . . . . . . . . . 0.006789 . . . . 3.V . . . . . . . . . 0.0044 0.0088 0.0109 0.0104 0.0217 0.0094 0.0096 0.0116 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.02 . . rs146658427 rs146658427 1 1538 10 1/0 0,255,255 +rs146658427 7 21941886 C T - DNAH11 2942 Dynein, axonemal, heavy chain 11 NM_001277115.1 1 13896 13551 NP_001264044.1 substitution downstream GRCh37 21941886 21941886 Chr7(GRCh37):g.21941886C>T *1014 *1014 NM_001277115.1:c.*1014C>T p.? p.? 82 603339 1262 3' 87.5833 10.212 0.981762 6.12457 87.5833 10.212 0.981762 6.12457 0 Cryptic Donor Strongly Activated 21941880 7.13539 0.950889 75.23 VIII.08 0.981987 81.0086 rs146658427 yes no Frequency/1000G 2 C 0.000000 0 0.014577 0.001500 0.028600 0.025800 0.011900 0.007200 0.008832 0.004375 0.010949 0.010417 0.021658 0.000000 0.009601 0.009440 0.011579 0.021658 267 38 9 3 35 0 139 32 11 30230 8686 822 288 1616 0 14478 3390 950 0.007491 0.000000 0.000000 0.000000 0.000000 0.000000 0.014388 0.000000 0.000000 2 0 0 0 0 0 2 0 0 263 38 9 3 35 0 135 32 11 0 0 0 0 0 0 0 0 0 PASS 44 Genomes 3153 1382 4535 29 2 31 0.00911376 0.00144509 0.00678931 0.00911376 0.00144509 0.00678931 230 transition C T C>T 0.000 1.255 213 PASS . 0.01 0.01 0.02 0.01 0.0015 0.015 0.0072 0.026 0.012 0.029 . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 25.0 . . . 0.0014 0.0068 0.0091 0.0014 0.0068 0.0091 . 0.6491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0146 . . . 0.41 0.73 182 ENSG00000164649 CDCA7L CDCA7L . . . . . . 633 0.00974206 64976 561 0.00935218 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146658427 . . . . . . . . . . . . . . . . . . . . . . . 0.006789 . . . . 3.V . . . . . . . . . 0.0044 0.0088 0.0109 0.0104 0.0217 0.0094 0.0096 0.0116 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.02 . . rs146658427 rs146658427 1 1538 10 1/0 0,255,255 +rs143279140 7 26225103 T C - NFE2L3 7783 Nuclear factor (erythroid-derived 2)-like 3 NM_004289.6 1 3711 2085 NP_004280.5 Q9Y4A8 substitution synonymous exon GRCh37 26225103 26225103 Chr7(GRCh37):g.26225103T>C 1785 1785 NM_004289.6:c.1785T>C p.Cys595= p.Cys595Cys 4 604135 951 3' 92.826 12.0634 0.973085 8.09936 92.826 12.0634 0.973085 8.09936 0 bZIP transcription factor, bZIP-1 Basic leucine zipper domain, Maf-type Basic leucine zipper Basic-leucine zipper domain rs143279140 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000639 0.000167 0.000465 0.000000 0.000106 0.000065 0.001131 0.000155 0.000930 0.001131 177 4 16 0 2 2 143 4 6 276860 24022 34410 10150 18864 30780 126398 25784 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 177 4 16 0 2 2 143 4 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4406 12992 12 0 12 0.00139567 0 0.000922793 0.00139567 0 0.000922793 58 transition T C T>C 0.992 0.205 C Cys TGT 0.448 C Cys TGC 0.552 595 255 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000050344:ENST00000056233:exon4:c.T1785C:p.C595C NFE2L3:uc003sxq.3:exon4:c.T1785C:p.C595C NFE2L3:NM_004289:exon4:c.T1785C:p.C595C . . 0.35135135 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . 0.0009 0.0014 . 0.0009 0.0014 . I.59 . . . . . . . . 6.867e-04 . . . 9.647e-05 0.0007 0.0003 0.0002 0.0003 0.0014 0.0014 6.062e-05 0.0001 0.0007 0.0003 0.0001 0.0002 0.0011 0.0014 6.097e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.34 0.25 182 ENSG00000050344 NFE2L3 NFE2L3 . . . . . . 43 0.000661783 64976 42 0.000700163 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs143279140 . . . . . . . . . . . . . . . . . . . . . . . 0.000923 . . . . . 6.538e-05 0.0006 0.0005 0 0.0001 0.0001 0.0011 0.0011 6.498e-05 0.0003 0.0006 0 0 0 0.0003 0.0010 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0014 . . rs143279140 rs143279140 1 1538 10 1/0 0,255,255 +. 7 31378787 C T - NEUROD6 13804 Neuronal differentiation 6 NM_022728.3 -1 2161 1014 NP_073565.2 Q96NK8 substitution synonymous exon GRCh37 31378787 31378787 Chr7(GRCh37):g.31378787C>T 96 96 NM_022728.3:c.96G>A p.Lys32= p.Lys32Lys 2 611513 117 3' 88.5149 8.56621 0.933927 4.98893 88.5149 8.56621 0.933927 4.98893 0 Transcription factor, basic helix-loop-helix, NeuroD 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 243738 15302 33582 9844 17246 30780 109262 22258 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 67 Exomes COSM5650413 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 1.000 2.788 K Lys AAG 0.575 K Lys AAA 0.425 32 255 PASS . . . . . . . . . . . ENSG00000164600:ENST00000297142:exon2:c.G96A:p.K32K . NEUROD6:NM_022728:exon2:c.G96A:p.K32K . . 0.50769234 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K32|NEUROD6|mRNA|CODING|NM_022728|NM_022728.ex.2) . . . . . . . I.34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000164600 NEUROD6 NEUROD6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.28 0 4.103e-06 0 0 0 0 0 0 3.249e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17727583 7 33573546 A C - BBS9 30000 Bardet-Biedl syndrome 9 NM_001348041.2 1 4883 2727 NP_001334970.1 substitution intron GRCh37 33573546 33573546 Chr7(GRCh37):g.33573546A>C 2299-20 2299-20 NM_001348041.2:c.2299-20A>C p.? p.? 21 20 607968 -20 3' 90.9958 5.65888 0.685781 III.34 90.9958 5.98285 0.690314 5.1441 0.0212868 rs17727583 yes no Frequency/HapMap/1000G 3 A benign 0.000000 0 0.004593 0.000800 0.002000 0.000000 0.013900 0.008600 0.009005 0.002247 0.007089 0.014480 0.000000 0.002436 0.014192 0.003723 0.012686 0.014480 2496 54 244 147 0 75 1798 96 82 277186 24030 34418 10152 18864 30782 126690 25786 6464 0.000144 0.000000 0.000116 0.000394 0.000000 0.000000 0.000237 0.000000 0.000309 20 0 2 2 0 0 15 0 1 2456 54 240 143 0 75 1768 96 80 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8471 4400 12871 129 6 135 0.015 0.00136178 0.0103798 0.015 0.00136178 0.0103798 100 RCV000248096.1 germline clinical testing Benign 1 not specified transversion A C A>C 0.000 -1.005 255 PASS . 0.01 0.01 . 0.02 0.0008 0.0046 0.0086 . 0.014 0.002 . . . . . 0.55813956 . . germline 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000248096.1 not_specified MedGen CN169374 2 . . . 43.0 . . . 0.0014 0.01 0.015 0.0014 0.01 0.015 . 0.0206 . . . . . . . . 9.029e-03 . . . 0.0018 0.0087 0.0062 0 0.0026 0.0152 0.0140 0.0023 0.0019 0.0087 0.0063 0 0.0039 0.0141 0.0101 0.0023 . . . . . . intronic intronic intronic . . . 0.0046 . . . 0.44 0.27 182 ENSG00000122507 BBS9 BBS9 . . . . . . 659 0.0101422 64976 636 0.0106025 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17727583 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010380 . . . . . 0.0020 0.0092 0.0070 0.0145 0 0.0040 0.0145 0.0133 0.0024 0.0027 0.0076 0.0095 0.0132 0 0.0020 0.0123 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs17727583 rs17727583 rs17727583 rs17727583 1 1538 10 1/0 0,255,255 +. 7 35289889 C CA - TBX20 11598 T-box 20 NM_001077653.2 -1 1824 1344 NP_001071121.1 Q9UMR3 duplication intron GRCh37 35289889 35289890 Chr7(GRCh37):g.35289890dup 128-75 128-75 NM_001077653.2:c.128-75dup p.? p.? 2 1 606061 -74 3' 88.7626 8.92071 0.938165 7.02546 88.7626 8.92071 0.938165 6.72813 0 rs5883498 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30959 8723 838 302 1622 0 15000 3494 980 30960 8724 838 302 1622 0 15000 3494 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15479 4361 419 151 811 0 7500 1747 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes T 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.972973 . . . 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 74 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000164532 TBX20 TBX20 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397953087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11428369 rs5883498 rs5883498 1 1538 255 1.I 0,0,255 +. 7 37960644 G T - EPDR1 17572 Ependymin related 1 NM_017549.4 1 2599 675 NP_060019.2 Q9UM22 substitution missense exon GRCh37 37960644 37960644 Chr7(GRCh37):g.37960644G>T 103 103 NM_017549.4:c.103G>T p.Ala35Ser p.Ala35Ser 1 -167 5' 68.9897 6.61826 0.525236 XI.76 68.9897 6.61826 0.525236 XI.76 0 New Donor Site 37960642 0.0936238 0.001922 68.0214 transversion G T G>T 0.000 -0.037 A Ala GCG 0.107 S Ser TCG 0.056 35 12 3 Macaque 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 199.49 0.00 Tolerated 0.82 III.62 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.252 . . 63.0 . . . . . . . . . . -1.2499 -1.270 -1.250 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.042 @ . . . . . . ENSG00000086289 EPDR1 EPDR1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . T 0.209 0.008 . . 37 . 0.158 . . 0.064 . . . 0.003 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.251 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 0.084 . . . . . 0.007 . 0.025 . HET 0.22 . . . . . . . . . . . . . 0.6345 . . III.73 -3.64 . 0.430000 A4D1W8 . . Name\x3dnsv8074 . . 0.092 . . . . . . . . . . . . . . . . . . . . . . 0.477 . -0.811 -0.811000 . . 0.430000 . . 1.0E-255 0.015 0.189 . 0.214 0.021 . 0.133 . 0.058 -0.811 -0.446 . . . . . 1 1538 10 1/0 0,255,255 +rs200774960 7 38398174 A G - TRG-AS1 48974 T cell receptor gamma locus antisense RNA 1 NR_040085.1 1 3516 0 substitution intron GRCh37 38398174 38398174 Chr7(GRCh37):g.38398174A>G 435+8123 435+8123 NR_040085.1:n.435+8123A>G p.? p.? 3 3 8123 5' 87.5418 8.88433 0.996044 3.71958 87.5418 8.88433 0.996044 3.71958 0 rs200774960 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.003525 0.000847 0.003380 0.005145 0.000054 0.001366 0.004999 0.002554 0.006157 0.005145 928 20 116 52 1 42 617 41 39 263248 23600 34324 10106 18662 30740 123428 16054 6334 0.000030 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000000 0.000316 4 0 1 0 0 0 2 0 1 920 20 114 52 1 42 613 41 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8181 3726 11907 41 4 45 0.00498662 0.00107239 0.00376506 0.00498662 0.00107239 0.00376506 103 transition A G A>G 0.000 1.658 255 PASS . . . . . . 0.0006 . . 0.003 . ENSG00000211699:ENST00000390346:exon2:c.T293C:p.L98S TRGV3:uc003tgr.2:exon2:c.T293C:p.L98S . . . 0.53932583 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||TRG-AS1|Non-coding_transcript|NON_CODING|NR_040085|) 0.0011 0.0038 0.005 0.0011 0.0038 0.005 . 0.3690 . . . . . . . . 3.316e-03 . . . 0.0006 0.0037 0.0041 0.0002 0.0040 0.0059 0.0029 0.0011 0.0006 0.0031 0.0042 0 0.0041 0.0041 0.0029 0.0011 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . 0.0006 . . . 0.25 0.44 182 ENSG00000211699 TRGV3 TRG-AS1 . . . . . . 288 0.00443241 64976 284 0.00473444 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs200774960 . . . . . . . . . . . . . . . . . . . . . . . 0.003765 . . . . II.87 0.0005 0.0035 0.0034 0.0047 5.869e-05 0.0025 0.0050 0.0065 0.0014 0.0014 0.0036 0.0036 0.0199 0 0.0029 0.0051 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.005 . . rs200774960 rs200774960 1 1538 10 1/0 0,255,255 +rs61756578 7 43580774 C T - HECW1 22195 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 NM_015052.4 1 6839 4821 NP_055867.3 Q76N89 substitution synonymous exon GRCh37 43580774 43580774 Chr7(GRCh37):g.43580774C>T 4032 4032 NM_015052.4:c.4032C>T p.Ser1344= p.Ser1344Ser 25 610384 13 3' 89.8716 11.0543 0.95477 8.17791 89.8716 11.0543 0.955503 8.01849 0.000255908 HECT rs61756578 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.004000 0.004300 0.001746 0.000000 0.004300 0.004630 0.000053 0.002696 0.001279 0.000000 0.006656 0.004630 484 0 148 47 1 83 162 0 43 277186 24020 34418 10152 18868 30782 126694 25792 6460 0.000043 0.000000 0.000058 0.000000 0.000000 0.000065 0.000016 0.000000 0.000929 6 0 1 0 0 1 1 0 3 472 0 146 47 1 81 160 0 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8312 3926 12238 8 2 10 0.000961538 0.000509165 0.00081646 0.000961538 0.000509165 0.00081646 159 transition C T C>T 0.992 0.044 S Ser AGC 0.243 S Ser AGT 0.149 1344 255 PASS . 0.0023 0.01 . 0.004 . 0.0016 0.0043 . 0.004 0.001 . . . . . 0.3490566 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 106.0 . . . 0.0005 0.0008 0.001 0.0005 0.0008 0.001 . -0.4779 . . . . . . . . 1.762e-03 . . . 0.0001 0.0023 0.0065 0 0 0.0020 0.0085 0.0024 0.0001 0.0019 0.0066 0.0001 0 0.0015 0.0087 0.0024 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.24 0.34 182 ENSG00000002746 HECW1 HECW1 . . . . . . 87 0.00133896 64976 79 0.00131697 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61756578 . . . . . . . 0.0022893772893772895 0.0 0.0055248618784530384 0.0 0.00395778364116095 13.2052 3.09E-4 ENST00000429529 5.VI -4.23 . . . . . . 0.000816 . . . . . 0 0.0019 0.0043 0.0047 5.798e-05 0 0.0014 0.0073 0.0027 0 0.0005 0.0036 0.0033 0 0 0.0005 0.0031 . . . . -0.498 -0.498000 . . . . . 1.0E-255 . . . . . . . . . -0.498 . 0.01 rs61756578 rs61756578 rs61756578 rs61756578 1 1538 10 1/0 0,245,255 +rs75823018 7 44026251 T C - POLR2J4 28195 Polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene NR_003655.3 -1 6511 0 substitution exon GRCh37 44026251 44026251 Chr7(GRCh37):g.44026251T>C 888 888 NR_003655.3:n.888A>G 7 26 3' 83.3861 8.1482 0.339255 5.97547 83.3861 8.1482 0.339255 6.67926 0 rs75823018 yes no Frequency 1 0.000000 0 0.000880 0.008425 0.000040 0.000000 0.000779 0.000000 0.000211 0.000000 0.000633 0.008425 156 128 1 0 9 0 15 0 3 177332 15192 24728 8528 11554 22816 71118 18660 4736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 156 128 1 0 9 0 15 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.844 199 PASS . . . . . . . . . . . . POLR2J4:uc010kxw.2:exon6:c.A544G:p.K182E . . . 0.15646258 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T296|POLR2J4|Non-coding_transcript|NON_CODING|NR_003655|NR_003655.ex.7) . . . . . . . -0.4389 . . . . . . . . 6.284e-04 . . . 0.0072 0.0009 0.0024 0 0 0.0001 0 0 0.0041 0.0005 0.0034 0 0 0.0002 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.52 0.29 182 . POLR2J4 POLR2J4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.57 rs75823018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0054 0.0003 4.182e-05 0 0 0 3.519e-05 0 0 0.0114 0.0039 0 0 0.0067 0 0.0009 0.0032 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . rs75823018 rs112611402 1 1538 10 1/0 0,214,255 +. 7 44054235 A G - POLR2J4 28195 Polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene NR_003655.3 -1 6511 0 substitution exon GRCh37 44054235 44054235 Chr7(GRCh37):g.44054235A>G 372 372 NR_003655.3:n.372T>C 3 -31 5' 81.6581 8.48112 0.983236 XI.23 81.6581 8.48112 0.983236 12.0315 0 transition T C T>C 0.992 -0.037 123 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.0583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.47 0.2 182 . POLR2J4 POLR2J4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-123 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749807911 7 44079834 G A - LINC00957 22332 Long intergenic non-protein coding RNA 957 NR_015401.2 1 1713 0 substitution exon GRCh37 44079834 44079834 Chr7(GRCh37):g.44079834G>A 577 577 NR_015401.2:n.577G>A 2 342 3' 82.8945 9.90862 0.986013 9.46535 82.8945 9.90862 0.986013 9.46535 0 rs749807911 no no 0 G 0.000000 0 transition G A G>A 1.000 2.950 255 PASS . . . . . . . . . . . . RASA4CP:uc011kbk.1:exon2:c.C75T:p.A25A . . . 0.375 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 16.0 . . . . . . . . . . 0.7049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.45 0.44 182 . RASA4CP . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs749807911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs739735 rs739735 rs739735 rs739735 1 1538 10 1/0 0,255,255 +rs749807911 7 44079834 G A - RASA4CP 44185 RAS p21 protein activator 4C, pseudogene NR_024116.2 -1 1527 0 substitution exon GRCh37 44079834 44079834 Chr7(GRCh37):g.44079834G>A 180 180 NR_024116.2:n.180C>T 2 -4 5' 79.5269 8.16693 0.857949 XI.91 79.5269 8.16693 0.661542 X.92 -0.0763087 Cryptic Acceptor Strongly Activated 44079830 3.26633 0.031204 73.5146 3.73041 0.06211 73.5146 rs749807911 no no 0 G 0.000000 0 transition C T C>T 1.000 2.950 255 PASS . . . . . . . . . . . . RASA4CP:uc011kbk.1:exon2:c.C75T:p.A25A . . . 0.375 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 16.0 . . . . . . . . . . 0.7049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.45 0.44 182 . RASA4CP . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs749807911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs739735 rs739735 rs739735 rs739735 1 1538 10 1/0 0,255,255 +. 7 44081449 T C - LINC00957 22332 Long intergenic non-protein coding RNA 957 NR_015401.2 1 1713 0 substitution intron GRCh37 44081449 44081449 Chr7(GRCh37):g.44081449T>C 1445-365 1445-365 NR_015401.2:n.1445-365T>C p.? p.? 3 2 -365 3' 0 0 2.6e-05 0 0 0 2.6e-05 0 0 transition T C T>C 1.000 1.900 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . 0.6117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . . LINC00957 LINC00957 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 7 44081449 T C - RASA4CP 44185 RAS p21 protein activator 4C, pseudogene NR_024116.2 -1 1527 0 substitution upstream GRCh37 44081449 44081449 Chr7(GRCh37):g.44081449T>C -1227 -1227 NR_024116.2:n.-1227A>G p.? p.? 1 -1272 5' 76.0191 7.52496 0.911356 14.0252 76.0191 7.52496 0.911356 14.0252 0 transition A G A>G 1.000 1.900 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . 0.6117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . . LINC00957 LINC00957 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +rs190159967 7 44714938 C T - OGDH 8124 Oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) NM_002541.3 1 4302 3072 NP_002532.2 Q02218 substitution intron GRCh37 44714938 44714938 Chr7(GRCh37):g.44714938C>T 1026+71 1026+71 NM_002541.3:c.1026+71C>T p.? p.? 8 8 613022 71 5' 87.5642 8.40856 0.963752 9.69383 87.5642 8.40856 0.963752 9.57519 0 Cryptic Acceptor Weakly Activated 44714943 7.64748 0.974949 79.3511 IX.57 0.983333 82.8967 rs190159967 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001550 0.000688 0.000000 0.000000 0.000000 0.000000 0.001933 0.002577 0.004073 0.002577 48 6 0 0 0 0 29 9 4 30960 8720 838 302 1620 0 15006 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 6 0 0 0 0 29 9 4 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.047 2.304 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.46835443 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.1673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.3 0.19 182 ENSG00000105953 OGDH OGDH . . . . . . 145 0.00223159 64976 144 0.00240056 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190159967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.76 . . . . . . . . . 0.0007 0.0016 0 0 0 0.0026 0.0019 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs190159967 rs190159967 1 1538 10 1/0 0,255,255 +rs73694268 7 45104157 G A - CCM2 21708 CCM2 scaffolding protein NM_001029835.2 1 1882 1398 NP_001025006.1 substitution synonymous exon GRCh37 45104157 45104157 Chr7(GRCh37):g.45104157G>A 447 447 NM_001029835.2:c.447G>A p.Glu149= p.Glu149Glu 4 607929 -89 5' 72.0444 8.68156 0.922791 8.05151 72.0444 8.68156 0.922791 8.05151 0 PTB/PI domain rs73694268 yes no Frequency/1000G 2 G benign 0.000000 0 0.011981 0.044600 0.000000 0.000000 0.000000 0.001400 0.003296 0.035042 0.001424 0.000000 0.000000 0.000000 0.000103 0.000000 0.001548 0.035042 913 841 49 0 0 0 13 0 10 277016 24000 34400 10144 18868 30778 126592 25776 6458 0.000058 0.000667 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 8 0 0 0 0 0 0 0 897 825 49 0 0 0 13 0 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4274 12874 0 132 132 0 0.0299591 0.0101492 0 0.0299591 0.0101492 67 RCV000242656.1 germline clinical testing Benign 1 not specified transition G A G>A 0.992 0.044 E Glu GAG 0.583 E Glu GAA 0.417 149 255 PASS 0.02 0.01 . . . 0.045 0.012 0.0014 . . . . . . . . 0.45 . . germline 36 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Benign Benign RCV000242656.1 not_specified MedGen CN169374 1 . . . 80.0 . . . 0.03 0.01 . 0.03 0.01 . . I.70 . . . . . . . . 3.220e-03 . . . 0.0355 0.0042 0.0012 0 0 0.0001 0 0 0.0354 0.0032 0.0013 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0120 . . . 0.43 0.12 182 ENSG00000136280 CCM2 CCM2 . . . . . . 80 0.00123122 64976 20 0.000333411 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73694268 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010149 . . . . . 0.0356 0.0025 0.0014 0 0 0 0.0001 0.0015 0 0.0341 0.0098 0.0024 0 0 0 6.664e-05 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 . rs73694268 rs73694268 rs73694268 1 1538 10 1/0 0,255,255 +rs73694279 7 45120068 T A - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution 3'UTR GRCh37 45120068 45120068 Chr7(GRCh37):g.45120068T>A *40 *40 NM_001146334.1:c.*40A>T p.? p.? 8 55 3' 93.3693 10.523 0.980213 10.1873 93.3693 10.523 0.980213 10.421 0 rs73694279 yes no Frequency/1000G 2 T 0.000000 0 0.011582 0.043100 0.000000 0.000000 0.000000 0.001400 0.003377 0.034138 0.001412 0.000000 0.000000 0.000000 0.000083 0.000000 0.001873 0.034138 607 557 35 0 0 0 6 0 9 179756 16316 24782 8530 11866 22822 72048 18586 4806 0.000078 0.000858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 7 7 0 0 0 0 0 0 0 593 543 35 0 0 0 6 0 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3182 1336 4518 0 48 48 0 0.0346821 0.0105125 0 0.0346821 0.0105125 126 transversion A T A>T 0.000 -0.360 255 PASS 0.02 0.01 . . . 0.043 0.012 0.0014 . . . . . . . . 0.54545456 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . . 0.035 0.011 . 0.035 0.011 . . 0.3545 . . . . . . . . 3.037e-03 . . . 0.0354 0.0039 0 0 0 0 0 0 0.0330 0.0034 0 0 0 0 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0116 . . . 0.42 0.66 182 ENSG00000136274 NACAD NACAD ENST00000490531:c.*40A>T uc003tmt.3:c.*40A>T NM_001146334:c.*40A>T . . . 78 0.00120044 64976 20 0.000333411 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73694279 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv888001 0.010512 . . . . . 0.0346 0.0021 0.0014 0 0 0 8.757e-05 0.0018 0 0.0337 0.0097 0.0024 0 0 0 6.689e-05 0.0021 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.035 . rs73694279 rs73694279 rs73694279 1 1538 10 1/0 0,255,255 +rs10276874 7 45123185 G A - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123185 45123185 Chr7(GRCh37):g.45123185G>A 2594 2594 NM_001146334.1:c.2594C>T p.Pro865Leu p.Pro865Leu 2 -1479 5' 94.6745 X.23 0.99635 X.42 94.6745 X.23 0.99635 X.42 0 Cryptic Acceptor Strongly Activated 45123174 2.1471 0.004348 74.48 3.39739 0.005417 78.5819 rs10276874 no no 0 A 0.000000 0 0.000063 0.000000 0.000246 0.000000 0.000000 0.000000 0.000000 0.000539 0.000000 0.000539 3 0 2 0 0 0 0 1 0 47636 3172 8140 1156 7132 4296 20514 1856 1370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.844 P Pro CCT 0.283 L Leu CTT 0.129 865 13 2 Rat -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.C2594T:p.P865L NACAD:uc003tmt.3:exon2:c.C2594T:p.P865L NACAD:NM_001146334:exon2:c.C2594T:p.P865L . . 0.34210527 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.019 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P865L|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.3892 -1.486 -1.389 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.121 . . exonic exonic exonic . . 0.065 @ . . . 0.32 0.4 182 ENSG00000136274 NACAD NACAD . . . 0.241 0.186 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.337 0.014 . . 37 . 0.096 . . 0.283 . . . 0.203 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.087 . . . . . 0.168 . 0.007 . HET 0 rs10276874 . . . . . . . . . . . . V.65 0.157895 ENST00000490531 II.86 -2.24 . 0.190000 O15069 . . Name\x3dnsv888001 . . 0.055 . . . 0 4.601e-05 0.0003 0 0 0 0 0 0 0 0.0002 0 0 0 0.0008 0 0 . . 0.372 . -0.650 -0.650000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.082 . 0.004 -0.650 -1.613 . rs10276874 rs10276874 rs10276874 rs10276874 1 1538 10 1/0 0,255,255 +. 7 45123377 G A - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123377 45123377 Chr7(GRCh37):g.45123377G>A 2402 2402 NM_001146334.1:c.2402C>T p.Ala801Val p.Ala801Val 2 -1671 5' 94.6745 X.23 0.99635 X.42 94.6745 X.23 0.99635 X.42 0 transition C T C>T 0.000 0.044 A Ala GCT 0.263 V Val GTT 0.178 801 13 3 White-tuffed-ear marmoset 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 202 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.C2402T:p.A801V NACAD:uc003tmt.3:exon2:c.C2402T:p.A801V NACAD:NM_001146334:exon2:c.C2402T:p.A801V . . 0.1640625 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.256 . . 128.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A801V|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.1360 -1.245 -1.136 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.130 . . exonic exonic exonic . . 0.115 @ . . . . . . ENSG00000136274 NACAD NACAD . . . 0.104 0.165 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.110 0.004 . . 37 . 0.083 . . 0.333 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.250 . . 0.193 . . . . . . 0 0.395 . . . . . 0.122 . 0.016 . HET 0.01 . . . . . . . . . . . . . IV.42 . ENST00000490531 I.81 -0.464 . 0.100000 O15069 . . Name\x3dnsv888001 . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.036 0.036000 . . 0.100000 . . 1.0E-202 0.000 0.063 . 0.043 0.001 . 0.111 . 0.286 0.036 0.009 . . . . . 1 1538 10 1/0 0,221,255 +rs111887226 7 45123660 A G - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123660 45123660 Chr7(GRCh37):g.45123660A>G 2119 2119 NM_001146334.1:c.2119T>C p.Ser707Pro p.Ser707Pro 2 -1954 5' 94.6745 X.23 0.99635 X.42 94.6745 X.23 0.99635 X.42 0 rs111887226 no no 0 G 0.000000 0 0.000313 0.000386 0.000742 0.000000 0.000000 0.000418 0.000307 0.000000 0.000000 0.000742 7 1 2 0 0 1 3 0 0 22348 2588 2696 528 3292 2390 9772 496 586 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 2 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 PASS 80 Exomes transition T C T>C 0.000 -3.265 S Ser TCC 0.220 P Pro CCC 0.328 707 13 2 Gorilla -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.38 IV.32 unknown 0.0 0.0 191 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.T2119C:p.S707P NACAD:uc003tmt.3:exon2:c.T2119C:p.S707P NACAD:NM_001146334:exon2:c.T2119C:p.S707P . . 0.1368421 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.004 . . 190.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S707P|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -2.2448 -2.316 -2.245 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.155 . . exonic exonic exonic . . 0.038 @ . . . 0.34 0.22 182 ENSG00000136274 NACAD NACAD . . . 0.999 0.389 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.115 0.005 . . 37 . 0.057 . . 0.249 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.080 . . . . . 0.020 . 0.012 . LowAF 0.45 rs111887226 . . . . . . . . . . . . I.39 . ENST00000490531 I.99 -3.98 . 0.320000 O15069 . . Name\x3dnsv888001 . . 0.002 . . . 0.0004 0.0003 0.0007 0 0 0 0.0003 0 0.0004 . . . . . . . . . . 0.372 . -2.846 -2.846000 . . 0.320000 . . 1.0E-191 0.000 0.063 . 0.016 0.000 . 0.004 . 0.016 -2.846 -1.619 . . . rs202009438 rs202009438 1 1538 10 1/0 0,202,255 +rs200226621 7 45123737 G A - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123737 45123737 Chr7(GRCh37):g.45123737G>A 2042 2042 NM_001146334.1:c.2042C>T p.Ala681Val p.Ala681Val 2 1975 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.7469 0 rs200226621 no no 0 G 0.000000 0 0.000063 0.000000 0.000171 0.000000 0.000191 0.000000 0.000000 0.000473 0.000000 0.000473 3 0 1 0 1 0 0 1 0 47904 2276 5840 2052 5228 6250 22812 2116 1330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.367 A Ala GCT 0.263 V Val GTT 0.178 681 13 4 White-tuffed-ear marmoset 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.14 IV.32 unknown 0.0 0.0 221 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.C2042T:p.A681V NACAD:uc003tmt.3:exon2:c.C2042T:p.A681V NACAD:NM_001146334:exon2:c.C2042T:p.A681V . . 0.2173913 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.146 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A681V|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.2177 -1.314 -1.218 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.140 @ . . . 0.27 0.35 182 ENSG00000136274 NACAD NACAD . . . 0.108 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.123 0.005 . . 37 . 0.069 . . 0.421 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.087 . . 0 0 0 0 0 0 . 0.254 . . 0.133 . . . . . . 0 0.255 . . . . . 0.159 . 0.007 . HET 0.01 rs200226621 . . . . . . . . . . . . V.48 . ENST00000490531 I.17 0.127 . 0.690000 O15069 . . Name\x3dnsv888001 . . 0.046 . . . 0 4.25e-05 0.0002 0 0.0002 0 0 0 0 0 0.0012 0 0 . 0.0020 0 0 . . 0.609 . 0.036 0.036000 . . 0.690000 . . 1.0E-221 0.001 0.137 . 0.016 0.001 . 0.274 . 0.108 0.036 -0.144 . . . rs200226621 rs200226621 1 1538 10 1/0 0,231,255 +rs113544772 7 45123780 A G - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123780 45123780 Chr7(GRCh37):g.45123780A>G 1999 1999 NM_001146334.1:c.1999T>C p.Ser667Pro p.Ser667Pro 2 1932 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.7469 0 rs113544772 yes no Frequency 1 G 0.000000 0 0.000260 0.000732 0.000251 0.000490 0.000000 0.000201 0.000117 0.000915 0.001056 0.000915 26 2 4 3 0 3 5 6 3 100068 2734 15968 6124 8042 14898 42902 6560 2840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 2 4 3 0 3 5 6 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.167 S Ser TCC 0.220 P Pro CCC 0.328 667 13 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.3 IV.32 unknown 0.0 0.0 253 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.T1999C:p.S667P NACAD:uc003tmt.3:exon2:c.T1999C:p.S667P NACAD:NM_001146334:exon2:c.T1999C:p.S667P . . 0.31666666 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.031 . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S667P|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.7193 -1.783 -1.719 c . . . . . 2.341e-03 . . . 0.0031 0.0023 0 0 0 0.0017 0 0.0028 0.0075 0.0038 0 0.0076 0.0077 0.0040 0 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.059 @ . . . 0.3 0.34 182 ENSG00000136274 NACAD NACAD . . . 0.394 0.201 . . . . . . . Likely_benign . 0 . 0.080 . . . . T 0.226 0.008 . . 37 . 0.056 . . 0.359 . . . 0.038 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.096 . . . . . 0.001 . 0.007 . HET 0.47 rs113544772 . . . . . . . . . . . . 0.1096 . ENST00000490531 2.VI -2.56 . 0.330000 O15069 . . Name\x3dnsv888001 . . 0.006 . . . 0 0.0002 0.0002 0.0005 0 0.0003 0.0001 0.0004 0.0002 0.0125 0.0029 0.0056 0 0 0.0050 0 0.0149 . . 0.609 . -0.767 -0.767000 . . 0.330000 . . 1.0E-253 0.000 0.063 . 0.043 0.000 . 0.001 . 0.092 -0.767 -2.000 . . . rs113544772 rs113544772 1 1538 10 1/0 0,255,255 +rs61740887 7 45123906 T G - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45123906 45123906 Chr7(GRCh37):g.45123906T>G 1873 1873 NM_001146334.1:c.1873A>C p.Ile625Leu p.Ile625Leu 2 1806 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.7469 0 Cryptic Acceptor Strongly Activated 45123894 2.19386 0.001533 76.027 3.39739 0.005417 78.5819 rs61740887 yes no Frequency 1 T 0.000000 0 0.001071 0.005233 0.001051 0.000267 0.000956 0.000433 0.000630 0.002082 0.000948 0.005233 130 37 17 2 6 8 32 25 3 121438 7070 16170 7498 6278 18494 50756 12008 3164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 130 37 17 2 6 8 32 25 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -3.023 I Ile ATT 0.356 L Leu CTT 0.129 625 13 1 2 2 2 0 0 5.II 4.IX 111 111 5 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 215 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.A1873C:p.I625L NACAD:uc003tmt.3:exon2:c.A1873C:p.I625L NACAD:NM_001146334:exon2:c.A1873C:p.I625L . . 0.2 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.007 . . 110.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Ctt|I625L|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -2.6191 -2.643 -2.619 c . . . . . 2.813e-04 . . . 0 0.0003 0.0036 0.0063 0 0.0004 0 0 0 0.0002 0.0049 0.0093 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.101 . . exonic exonic exonic . . 0.052 @ . . . 0.26 0.36 182 ENSG00000136274 NACAD NACAD . . . 0.996 0.343 . . . . . . . Uncertain_significance . 0 . 0.099 . . . . T 0.056 0.003 . . 37 . 0.030 . . 0.305 . . . 0.007 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.126 . 0.008 . HET 0.06 rs61740887 . . . . . . . . . . . . IV.83 0.071918 ENST00000490531 I.47 -2.95 . 1.000000 O15069 . . . . . 0.008 . . . 0.0043 0.0006 0.0008 0.0001 0.0009 9.287e-05 0.0003 0.0004 0.0004 0.0068 0.0066 0.02 0.0074 0.0015 0.0194 0.0035 0.0065 . . 0.609 . -3.309 -3.309000 . . 1.000000 . . 1.0E-215 0.000 0.063 . 0.016 0.000 . 0.045 . 0.001 -3.309 -3.348 . . . rs61740887 rs61740887 1 1538 10 1/0 0,230,255 +rs377425677 7 45123925 C T - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution synonymous exon GRCh37 45123925 45123925 Chr7(GRCh37):g.45123925C>T 1854 1854 NM_001146334.1:c.1854G>A p.Lys618= p.Lys618Lys 2 1787 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.7469 0 rs377425677 yes no Frequency 1 C 0.000000 0 0.000196 0.000095 0.000505 0.000000 0.000127 0.000151 0.000150 0.000237 0.000283 0.000505 26 1 9 0 1 3 8 3 1 132942 10482 17808 7554 7886 19824 53172 12678 3538 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 1 9 0 1 3 8 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 K Lys AAG 0.575 K Lys AAA 0.425 618 234 PASS . . . . . . . . . . . ENSG00000136274:ENST00000490531:exon2:c.G1854A:p.K618K NACAD:uc003tmt.3:exon2:c.G1854A:p.K618K NACAD:NM_001146334:exon2:c.G1854A:p.K618K . . 0.25409836 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K618|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -0.2816 . . . . . . . . 2.354e-04 . . . 0 0.0004 0.0038 0.0073 0 0.0004 0 0 0 0.0002 0.0051 0.0096 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.32 182 ENSG00000136274 NACAD NACAD . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377425677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0.0005 0 0.0001 9.365e-05 0.0001 0.0003 0.0002 0 0.0003 0 0 0 0.001 0.0004 0 . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . rs377425677 rs377425677 1 1538 10 1/0 0,230,255 +rs73692203 7 45125663 C T - NACAD 22196 NAC alpha domain containing NM_001146334.1 -1 4761 4689 NP_001139806.1 O15069 substitution missense exon GRCh37 45125663 45125663 Chr7(GRCh37):g.45125663C>T 116 116 NM_001146334.1:c.116G>A p.Arg39Gln p.Arg39Gln 2 49 3' 84.0753 XII.65 0.991439 16.7469 84.0753 XII.65 0.991439 16.5975 0 rs73692203 yes no Frequency/1000G 2 C 0.000000 0 0.011582 0.043100 0.000000 0.000000 0.000000 0.001400 0.003437 0.033431 0.001222 0.000000 0.000000 0.000044 0.000096 0.000000 0.001543 0.033431 544 500 30 0 0 1 6 0 7 158280 14956 24558 8244 11546 22664 62714 9060 4538 0.000063 0.000669 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 5 5 0 0 0 0 0 0 0 534 490 30 0 0 1 6 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -3.265 R Arg CGG 0.207 Q Gln CAG 0.744 39 13 3 White-tuffed-ear marmoset 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.62 IV.32 unknown 0.0 0.0 255 PASS 0.02 0.01 . . 0.0026 0.043 0.012 0.0014 . . . ENSG00000136274:ENST00000490531:exon2:c.G116A:p.R39Q NACAD:uc003tmt.3:exon2:c.G116A:p.R39Q NACAD:NM_001146334:exon2:c.G116A:p.R39Q . . 0.5316456 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.122 . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R39Q|NACAD|mRNA|CODING|NM_001146334|NM_001146334.ex.2) . . . . . . . -1.8741 -1.973 -1.874 c . . . . . 2.284e-03 . . . 0.0689 0.0025 0 0 0 0.0003 0 0 0.0578 0.0017 0 0 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.009 0.0116 . . . 0.15 0.36 182 ENSG00000136274 NACAD NACAD . . . 1.000 0.747 . 78 0.00120044 64976 20 0.000333411 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.020 . . 0.338 . . . 0.098 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.230 . . 0.063 . . . . . . 0 0.090 . . . . . 0.034 . 0.023 . HET 0 rs73692203 0.011 0.007 . . . . . 0.005494505494505495 0.02032520325203252 0.0 0.0 0.002638522427440633 2.1056 0.024074 ENST00000490531 4.VI -8.13 . 0.510000 O15069 . . Name\x3dnsv888001 . . 0.032 . . . 0.0349 0.0020 0.0012 0 0 0 0.0001 0.0014 4.412e-05 0.0324 0.0093 0.0024 0 0 0 6.684e-05 0.0020 . . 0.450 . -2.466 -2.466000 . . 0.510000 . . 1.0E-255 0.000 0.063 . 0.132 0.027 . 0.006 . 0.017 -2.466 -0.094 0.02 . rs73692203 rs73692203 rs73692203 1 1538 10 1/0 0,255,255 +rs145228445 7 48015811 C T - HUS1 5309 HUS1 checkpoint homolog (S. pombe) NM_004507.3 -1 3017 843 NP_004498.1 O60921 substitution intron GRCh37 48015811 48015811 Chr7(GRCh37):g.48015811C>T 465+516 465+516 NM_004507.3:c.465+516G>A p.? p.? 4 4 603760 516 5' 74.2497 4.89859 0.392769 0 74.2497 4.89859 0.392769 0 0 rs145228445 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008900 0.001400 0.003584 0.000344 0.003580 0.000000 0.000000 0.000000 0.004598 0.009159 0.004073 0.009159 111 3 3 0 0 0 69 32 4 30968 8726 838 302 1618 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 3 3 0 0 0 69 32 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 -0.198 255 PASS 0.002 0.0037 . . 0.01 . 0.002 0.0014 . 0.0089 . . . . . . 0.62068963 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.0157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing intronic intronic . . . 0.0020 . . . 0.21 0.05 182 ENSG00000136273 HUS1 HUS1 ENST00000433977:exon4:c.609+1G>A . . . . . 418 0.00643314 64976 409 0.00681826 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145228445 . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . . . . . . . . . . 0.0003 0.0036 0.0036 0 0 0.0092 0.0046 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145228445 rs145228445 1 1538 10 1/0 0,255,255 +rs78634768 7 48547511 C A - ABCA13 14638 ATP-binding cassette, sub-family A (ABC1), member 13 NM_152701.4 1 17184 15177 NP_689914.3 Q86UQ4 substitution missense exon GRCh37 48547511 48547511 Chr7(GRCh37):g.48547511C>A 13390 13390 NM_152701.4:c.13390C>A p.Leu4464Met p.Leu4464Met 50 607807 44 3' 80.399 10.392 0.102705 5.67439 80.399 10.392 0.102705 5.62912 0 rs78634768 yes no Frequency/1000G 2 C 0.000000 0 0.003994 0.000800 0.000000 0.000000 0.013900 0.007200 0.008785 0.002595 0.008434 0.000297 0.000000 0.000822 0.012813 0.013900 0.011070 0.013900 2414 62 289 3 0 25 1607 357 71 274800 23892 34268 10096 18628 30398 125420 25684 6414 0.000131 0.000000 0.000175 0.000000 0.000000 0.000066 0.000175 0.000234 0.000000 18 0 3 0 0 1 11 3 0 2378 62 283 3 0 23 1585 351 71 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8405 4246 12651 91 12 103 0.0107109 0.00281822 0.0080759 0.0107109 0.00281822 0.0080759 76 transversion C A C>A 1.000 1.335 L Leu CTG 0.404 M Met ATG 1.000 4464 12 11 Zebra finch 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 35.68 6.VIII Deleterious 0.02 III.77 255 PASS 0.0041 0.01 0.01 0.01 0.02 0.0008 0.004 0.0072 . 0.014 . . . ABCA13:NM_152701:exon50:c.C13390A:p.L4464M . . 0.4857143 . . @ 34 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.633 . @ . . . . . 1 0.500 . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L4464M|ABCA13|mRNA|CODING|NM_152701|NM_152701.ex.50) 0.0028 0.0081 0.011 0.0028 0.0081 0.011 . 0.2933 0.295 0.293 c . . . . . 8.388e-03 . . . 0.0028 0.0082 0.0068 0 0.0161 0.0131 0.0033 0.0007 0.0024 0.0095 0.0065 0 0.0141 0.0145 0.0069 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.877 . . exonic exonic exonic . . 0.402 0.0040 . . . 0.42 0.42 182 ENSG00000179869 ABCA13 ABCA13 . . . 0.000 0.057 . 761 0.011712 64976 741 0.0123529 59986 Likely_benign . 0 . 0.402 . . . . . . . . . 37 . 0.813 . . 0.850 . . . 0.492 0.343 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.140 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.341 . . . . . 0.327 . 0.627 . HET 0.07 rs78634768 . . . . . . . 0.011446886446886446 0.0040650406504065045 0.013812154696132596 0.005244755244755245 0.01978891820580475 VIII.54 0.002228 . 5.V 3.VI . 0.280000 . . . Name\x3dnsv830992 0.008076 . 0.378 . . 3.VI 0.0023 0.0087 0.0083 0.0003 0 0.0144 0.0127 0.0105 0.0008 0.0031 0.0098 0.0155 0 0 0.0109 0.0140 0.0143 . . 0.133 . 1.209 1.209000 . . 0.280000 . . 1.0E-255 1.000 0.715 . 0.523 0.995 . 0.239 . 0.490 1.209 0.871 0.02 . . rs78634768 rs78634768 1 1538 10 1/0 0,255,255 +rs772729575 7 48965308 G A - CDC14C 22427 Cell division cycle 14C NR_003595.1 1 2893 0 substitution exon GRCh37 48965308 48965308 Chr7(GRCh37):g.48965308G>A 1152 1152 NR_003595.1:n.1152G>A 1 rs772729575 yes no Frequency 1 A 0.000000 0 0.000309 0.001662 0.000146 0.000000 0.000433 0.000000 0.000186 0.000418 0.000160 0.001662 83 36 5 0 8 0 23 10 1 268816 21658 34218 10090 18486 30768 123408 23946 6242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 36 5 0 8 0 23 10 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.039 0.448 220 PASS . . . . . . . . . . . . CDC14C:uc010kyv.1:exon1:c.G1040A:p.R347K . . . 0.21266969 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 221.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E384|CDC14C|Non-coding_transcript|NON_CODING|NR_003595|NR_003595.ex.1) . . . . . . . -0.1654 . . . . . . . . 3.946e-05 . . . 0 1.104e-05 0 0 0 2.377e-05 0 0 0 9.424e-06 0 0 0 1.842e-05 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.32 182 ENSG00000218305 CDC14C CDC14C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs772729575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 2.858e-05 2.98e-05 0 5.802e-05 0 2.694e-05 0 0 0.0053 0.0032 0.0061 0 0.0056 0.0040 0.0017 0.0013 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs399340 rs399340 rs399340 rs399340 1 1538 10 1/0 0,203,255 +rs760353111 7 50057888 C A - ZPBP 15662 Zona pellucida binding protein NM_007009.2 -1 1227 1056 NP_008940.2 Q9BS86 substitution missense exon GRCh37 50057888 50057888 Chr7(GRCh37):g.50057888C>A 731 731 NM_007009.2:c.731G>T p.Gly244Val p.Gly244Val 6 608498 25 3' 83.0231 5.37123 0.627815 0 83.0231 5.37123 0.627815 0 0 Zona-pellucida-binding rs760353111 yes no Frequency 1 C 0.000000 0 0.000043 0.000000 0.000029 0.000000 0.000000 0.000000 0.000087 0.000000 0.000000 0.000087 12 0 1 0 0 0 11 0 0 275884 24010 34240 10136 18790 30770 125996 25526 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 1 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 1.000 1.255 G Gly GGA 0.246 V Val GTA 0.114 244 11 9 Armadillo -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 137.77 67.15 Deleterious 0.02 III.78 bad 4.604E-3 0.2064 255 PASS . . . . . . . . . . . . . . . . 0.53846157 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.609 . @ . . . . . 1 0.669 . . 13.0 . . . . . . . . . . 0.3044 0.258 0.304 c . . . . . 3.948e-05 . . . 0 3.352e-05 0 0 0 7.21e-05 0 0 0 4.755e-05 0 0 0 9.268e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.520 . . exonic exonic exonic . . 0.359 @ . . . . . . ENSG00000042813 ZPBP ZPBP . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . 0.257 . . . . T 0.324 0.013 . . 37 . 0.518 . . 0.501 . . . 0.576 0.516 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.410 . . 0 0 0 0 0 0 . 0.542 . . 0.551 . . . . . . 0 0.306 . . . . . 0.288 . 0.534 . HET 0.2 rs760353111 . . . . . . . . . . . . VII.01 . . 4.I III.22 . . . . . Name\x3dnsv830997 . . 0.322 . . III.22 0 4.489e-05 2.993e-05 0 0 0 9.005e-05 0 0 0 3.242e-05 0 0 0 0 6.688e-05 0 . . 0.133 . 1.307 1.307000 . . . . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.274 . 0.437 1.307 0.598 . . . . . 1 1538 10 1/0 0,255,255 +rs202059826 7 50778562 G A - GRB10 4564 Growth factor receptor bound protein 10 NM_001350815.1 -1 5233 1899 NP_001337744.1 substitution intron GRCh37 50778562 50778562 Chr7(GRCh37):g.50778562G>A 254-36207 254-36207 NM_001350815.1:c.254-36207C>T p.? p.? 3 2 601523 -36207 3' 93.2727 9.66947 0.944598 12.1039 93.2727 9.66947 0.944598 12.1039 0 rs202059826 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.004462 0.001663 0.001370 0.000901 0.000000 0.002193 0.007489 0.004228 0.004403 0.007489 1201 38 47 9 0 67 903 109 28 269180 22846 34314 9992 18752 30554 120582 25780 6360 0.000074 0.000088 0.000000 0.000000 0.000000 0.000065 0.000100 0.000000 0.000629 10 1 0 0 0 1 6 0 2 1181 36 47 9 0 65 891 109 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3944 1750 5694 38 2 40 0.00954294 0.00114155 0.00697593 0.00954294 0.00114155 0.00697593 188 transition C T C>T 0.004 -0.037 255 PASS . . . . . . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5555556 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . 0.0011 0.007 0.0095 0.0011 0.007 0.0095 . -0.3427 . . . . . . . . 4.580e-03 . . . 0.0014 0.0040 0.0010 0 0.0050 0.0067 0.0030 0.0023 0.0012 0.0044 0.0009 0 0.0051 0.0068 0.0029 0.0024 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.45 0.15 182 ENSG00000106070 GRB10 GRB10 . . . . . . 396 0.00609456 64976 385 0.00641816 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202059826 . . . . . . . . . . . . . . . . . . . . . . . 0.006976 . . . . . 0.0011 0.0044 0.0013 0.0009 0 0.0041 0.0075 0.0046 0.0022 0.0025 0.0050 0.0036 0 0 0.0052 0.0073 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0095 . . rs202059826 rs202059826 1 1538 10 1/0 0,255,255 +. 7 51093156 TGAG T - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 deletion intron GRCh37 51093157 51093159 Chr7(GRCh37):g.51093157_51093159del 3676-231 3676-229 NM_001287436.2:c.3676-231_3676-229del p.? p.? 13 12 610317 -229 3' 82.1079 VII.83 0.936554 X.36 82.1079 VII.83 0.936554 X.36 0 rs541374897 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.001552 0.000574 0.005967 0.000000 0.000000 0.000000 0.002271 0.000286 0.003055 0.005967 48 5 5 0 0 0 34 1 3 30928 8716 838 302 1622 0 14974 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 5 5 0 0 0 34 1 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes CTC 255 Pass . . . . . 0.0008 0.0014 0.0029 . 0.004 . . . . . . 0.42307693 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs541374897 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv830999 . . . . . . . . . . . . . . . 0.0006 0.0016 0.0060 0 0 0.0003 0.0023 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,37 +. 7 51150852 T G - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 substitution synonymous exon GRCh37 51150852 51150852 Chr7(GRCh37):g.51150852T>G 1170 1170 NM_001287436.2:c.1170A>C p.Pro390= p.Pro390Pro 8 610317 74 3' 82.514 9.25208 0.983667 7.61489 82.514 9.25208 0.983667 VII.04 0 rs957407072 no no 0 T 0.000000 0 0.003656 0.001458 0.011079 0.005303 0.004846 0.003435 0.002314 0.001570 0.010240 0.011079 307 15 91 17 28 36 88 9 23 83980 10288 8214 3206 5778 10480 38034 5734 2246 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 307 15 91 17 28 36 88 9 23 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.504 -1.570 P Pro CCA 0.274 P Pro CCC 0.328 390 177 PASS . . . . . . . . . . . . . COBL:NM_001287436:exon8:c.A1170C:p.P390P . . 0.10869565 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.9643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . 19.8754 . ENST00000452534 V.56 -9.8 . . . . . Name\x3dnsv830999 . . . . . . 0.0016 0.0044 0.0117 0.0057 0.0063 0.0019 0.0026 0.0114 0.0034 0.0014 0.0015 0 0 0 0.0009 0.0015 0.0075 . . . . -2.001 -2.001000 . . . . . 1.0E-177 . . . . . . . . . -2.001 . . . . . . 1 1538 10 1.I 0,0,0 +. 7 51153024 GTACAATCAAAGTACTTTGTACCTATGAAGT G - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 deletion intron GRCh37 51153025 51153054 Chr7(GRCh37):g.51153025_51153054del 958-53 958-24 NM_001287436.2:c.958-53_958-24del p.? p.? 7 6 610317 -24 3' 86.6537 9.69825 0.996284 13.8246 86.6537 9.69825 0.996284 14.1245 0 51153049 -75.6176 rs759968885 yes no Frequency 1 0.000000 0 ACTTCATAGGTACAAAGTACTTTGATTGTA 255 Pass . . . . . . . . . . . . . . . . 0.53333336 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60 . . . . . . . . . . . . . . . . . . . 2.373e-05 . . . 0 3.626e-05 0 0 0 5.006e-05 0 8.914e-05 0 3.054e-05 0 0 0 3.83e-05 0 8.99e-05 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs759968885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,27 +. 7 51153056 CAAAGA C - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 deletion intron GRCh37 51153057 51153061 Chr7(GRCh37):g.51153057_51153061del 958-60 958-56 NM_001287436.2:c.958-60_958-56del p.? p.? 7 6 610317 -56 3' 86.6537 9.69825 0.996284 13.8246 86.6537 9.69825 0.996284 13.6177 0 TCTTT 255 Pass . . . . . . . . . . . . . . . . 0.5 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,30 +. 7 51153061 A AC - COBL 22199 Cordon-bleu WH2 repeat protein NM_001287436.2 -1 5383 3816 NP_001274365.1 insertion intron GRCh37 51153061 51153062 Chr7(GRCh37):g.51153061_51153062insC 958-61 958-60 NM_001287436.2:c.958-61_958-60insG p.? p.? 7 6 610317 -60 3' 86.6537 9.69825 0.996284 13.8246 86.6537 9.69825 0.996284 13.6336 0 rs147253289 yes no Frequency/1000G 2 0.025160 AGGAAAGAC 126 G 255 Pass . . . . . . . . . . . . . . . . 0.1875 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000106078 COBL COBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147253289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs147253289 rs147253289 1 1538 10 1.I 0,7,73 +rs796406189 (chr7:51459461 C/T) 7 51459461 C T Not on a known gene +rs796928771 (chr7:51459472 C/T) 7 51459472 C T Not on a known gene +rs796079698 (chr7:51459487 T/A) 7 51459487 T A Not on a known gene +rs796127385 (chr7:51459521 A/G) 7 51459521 A G Not on a known gene +rs796770714 (chr7:51459526 G/T) 7 51459526 G T Not on a known gene +rs796872312 (chr7:51459527 A/G) 7 51459527 A G Not on a known gene +rs796081135 (chr7:51459545 A/G) 7 51459545 A G Not on a known gene +rs796668039 (chr7:51459549 C/T) 7 51459549 C T Not on a known gene +rs796831321 (chr7:51459562 G/A) 7 51459562 G A Not on a known gene +rs796565184 (chr7:51459577 G/A) 7 51459577 G A Not on a known gene +. (chr7:51459585 T/C) 7 51459585 T C Not on a known gene +. (chr7:51459587 A/G) 7 51459587 A G Not on a known gene +rs138407473 7 55270463 C T - EGFR 3236 Epidermal growth factor receptor NM_005228.4 1 6353 3633 NP_005219.2 P00533 substitution intron GRCh37 55270463 55270463 Chr7(GRCh37):g.55270463C>T 3271+145 3271+145 NM_005228.4:c.3271+145C>T p.? p.? 27 27 131550 145 5' 87.1266 10.0978 0.926111 8.42735 87.1266 10.0978 0.926111 8.42735 0 rs138407473 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.001419 0.000742 0.001171 0.000941 0.000000 0.000132 0.002588 0.000337 0.001645 0.002588 247 12 29 8 0 3 182 5 8 174096 16180 24768 8504 11830 22796 70312 14842 4864 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 247 12 29 8 0 3 182 5 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.086 255 PASS . 0.0014 . . 0.004 . 0.001 . . 0.005 . . . . . . 0.51898736 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||EGFR|mRNA|CODING|NM_005228|) . . . . . . . -0.4102 . . . . . . . . 7.751e-04 . . . 0.0009 0.0011 0 0 0 0.0022 0.0053 0 0 0.0007 0 0 0.0006 0.0021 0 0 . . . . . . UTR3 UTR3 intronic . . . 0.0010 . . . 0.44 0.57 182 ENSG00000146648 EGFR EGFR ENST00000455089:c.*5C>T . . . . . 120 0.00184684 64976 116 0.00193378 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138407473 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2734425 . . . . . . 0.0007 0.0014 0.0011 0.0007 0 0.0003 0.0028 0.0018 0.0001 0.0008 0.0014 0.0024 0.0066 0 0.0006 0.0019 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs138407473 rs138407473 1 1538 10 1/0 0,255,255 +. (chr7:55814452 G/C) 7 55814452 G C Not on a known gene +. (chr7:55815527 G/A) 7 55815527 G A Not on a known gene +. (chr7:55815589 C/T) 7 55815589 C T Not on a known gene +rs145162978 7 56022760 A G - MRPS17 14047 Mitochondrial ribosomal protein S17 NM_015969.2 1 586 393 NP_057053.1 Q9Y2R5 substitution synonymous exon GRCh37 56022760 56022760 Chr7(GRCh37):g.56022760A>G 282 282 NM_015969.2:c.282A>G p.Pro94= p.Pro94Pro 3 611980 159 3' 78.4724 XI.11 0.950195 8.45335 78.4724 XI.11 0.950195 8.45335 0 Cryptic Donor Strongly Activated 56022760 0.000975 56.5625 2.70272 0.047685 68.6985 rs145162978 yes no Frequency/1000G 2 A 0.000000 0 0.001997 0.000800 0.000000 0.000000 0.008000 0.001400 0.005161 0.001748 0.003051 0.005615 0.000000 0.001040 0.008727 0.002365 0.004329 0.008727 1431 42 105 57 0 32 1106 61 28 277248 24030 34420 10152 18868 30782 126734 25794 6468 0.000050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000309 7 0 0 0 0 0 6 0 1 1417 42 105 57 0 32 1094 61 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8522 4398 12920 78 8 86 0.00906977 0.00181571 0.00661233 0.00906977 0.00181571 0.00661233 96 transition A G A>G 0.378 -1.247 P Pro CCA 0.274 P Pro CCG 0.115 94 255 PASS 0.002 0.0037 0.0028 . 0.01 0.0008 0.002 0.0014 . 0.008 . . MRPS17:uc003trd.3:exon3:c.A282G:p.P94P MRPS17:NM_015969:exon3:c.A282G:p.P94P . . 0.60714287 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 84.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P94|MRPS17|mRNA|CODING|NM_015969|NM_015969.ex.3) 0.0018 0.0066 0.0091 0.0018 0.0066 0.0091 . 0.8223 . . . . . . . . 5.501e-03 . . . 0.0012 0.0043 0.0018 0 0.0011 0.0079 0 0.0009 0.0012 0.0052 0.0018 0 0.0024 0.0091 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0020 . . . 0.21 0.21 182 . MRPS17 MRPS17 . . . . . . 454 0.0069872 64976 445 0.0074184 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145162978 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006612 . . . . . 0.0018 0.0052 0.0030 0.0058 0 0.0024 0.0089 0.0047 0.0010 0.0017 0.0047 0.0060 0 0 0.0020 0.0078 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs145162978 rs145162978 1 1538 10 1/0 0,255,255 +. (chr7:56438740 T/C) 7 56438740 T C Not on a known gene +. (chr7:56440038 T/C) 7 56440038 T C Not on a known gene +rs878872013 (chr7:56441332 T/C) 7 56441332 T C Not on a known gene +. (chr7:56446063 C/T) 7 56446063 C T Not on a known gene +rs4717802 7 57023640 A G - MIR4283-1 38238 MicroRNA 4283-1 NR_036246.1 -1 80 0 substitution upstream GRCh37 57023640 57023640 Chr7(GRCh37):g.57023640A>G -69 -69 NR_036246.1:n.-69T>C p.? p.? 1 rs4717802 no no 0 A 0.000000 0 0.002463 0.002331 0.000000 0.000000 0.000000 0.000000 0.004777 0.000000 0.000000 0.004777 5 2 0 0 0 0 3 0 0 2030 858 36 14 64 0 628 368 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.52380955 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 147.0 . . . . . . . . . . -0.4087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.31 0.27 182 ENSG00000264426 MIR4283-1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0025 0 0 0 0 0.0048 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4717802 rs4717802 rs4717802 rs4717802 1 1538 10 1/0 0,250,255 +rs4717802 7 57023640 A G - MIR4283-2 38296 MicroRNA 4283-2 NR_036270.1 -1 80 0 substitution upstream GRCh37 57023640 57023640 Chr7(GRCh37):g.57023640A>G -69 -69 NR_036270.1:n.-69T>C p.? p.? 1 rs4717802 no no 0 A 0.000000 0 0.002463 0.002331 0.000000 0.000000 0.000000 0.000000 0.004777 0.000000 0.000000 0.004777 5 2 0 0 0 0 3 0 0 2030 858 36 14 64 0 628 368 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 76 Genomes transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.52380955 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 147.0 . . . . . . . . . . -0.4087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.31 0.27 182 ENSG00000264426 MIR4283-1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0025 0 0 0 0 0.0048 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4717802 rs4717802 rs4717802 rs4717802 1 1538 10 1/0 0,250,255 +. (chr7:62858839 A/C) 7 62858839 A C Not on a known gene +rs572880711 (chr7:63204524 A/G) 7 63204524 A G Not on a known gene +rs184281558 (chr7:63206221 G/A) 7 63206221 G A Not on a known gene +rs183999742 (chr7:65082640 A/T) 7 65082640 A T Not on a known gene +rs144097623 7 65864704 A C - LINC00174 27788 Long intergenic non-protein coding RNA 174 NR_026873.1 -1 4424 0 substitution exon GRCh37 65864704 65864704 Chr7(GRCh37):g.65864704A>C 166 166 NR_026873.1:n.166T>G 2 -26 5' 91.4889 X.58 0.995143 5.74184 91.4889 X.58 0.995143 6.62919 0 rs144097623 yes no Frequency/1000G 2 A 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.004000 0.001400 0.004583 0.002290 0.001193 0.000000 0.000000 0.000000 0.007061 0.002290 0.007128 0.007061 142 20 1 0 0 0 106 8 7 30984 8734 838 302 1622 0 15012 3494 982 0.014085 0.000000 0.000000 0.000000 0.000000 0.000000 0.009434 0.000000 0.142857 2 0 0 0 0 0 1 0 1 138 20 1 0 0 0 104 8 5 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion T G T>G 0.028 0.286 255 PASS . 0.0023 0.0028 . 0.01 . 0.0012 0.0014 . 0.004 0.001 . LINC00174:uc003tux.4:exon2:c.T46G:p.Y16D . . . 0.5205479 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Gat|Y56D|LINC00174|Non-coding_transcript|NON_CODING|NR_026873|NR_026873.ex.2) . . . . . . . -0.2919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0012 . . . 0.37 0.15 182 ENSG00000179406 LINC00174 LINC00174 . . . . . . 451 0.00694102 64976 445 0.0074184 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144097623 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv888326 . . . . . . . . . . . . . . . 0.0023 0.0046 0.0012 0 0 0.0023 0.0071 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144097623 rs144097623 1 1538 10 1/0 0,255,255 +rs61758774 7 66274184 G A - GTF2IRD1P1 44136 GTF2I repeat domain containing 1 pseudogene 1 NR_003934.1 -1 2426 0 substitution downstream GRCh37 66274184 66274184 Chr7(GRCh37):g.66274184G>A *796 *796 NR_003934.1:n.*796C>T p.? p.? 11 2347 3' 90.4229 XI.08 0.986238 5.42193 90.4229 XI.08 0.986238 5.42193 0 rs61758774 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.004000 0.005800 0.007346 0.001540 0.003341 0.006502 0.000106 0.006498 0.009870 0.012213 0.007887 0.012213 2036 37 115 66 2 200 1250 315 51 277144 24022 34416 10150 18866 30780 126652 25792 6466 0.000101 0.000000 0.000000 0.000000 0.000000 0.000130 0.000158 0.000155 0.000000 14 0 0 0 0 2 10 2 0 2008 37 115 66 2 196 1230 311 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4398 12924 74 8 82 0.00860465 0.00181571 0.00630478 0.00860465 0.00181571 0.00630478 70 transition C T C>T 0.039 -0.198 255 PASS 0.002 0.0023 0.01 . 0.0026 0.0008 0.0028 0.0058 . 0.004 0.0051 . . . . . 0.45614034 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . . 0.0018 0.0063 0.0086 0.0018 0.0063 0.0086 . 0.3106 . . . . . . . . 6.945e-03 . . . 0.0016 0.0065 0.0037 0.0002 0.0092 0.0090 0.0099 0.0065 0.0018 0.0067 0.0037 0.0001 0.0103 0.0086 0.0086 0.0065 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.57 0.58 182 . RABGEF1 RABGEF1 . . . . . . 518 0.00797217 64976 504 0.00840196 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61758774 . . . . . . . . . . . . . . . . . . . . . . . 0.006305 . . . . . 0.0012 0.0070 0.0034 0.0066 0.0001 0.0125 0.0091 0.0073 0.0065 0.0022 0.0099 0.0012 0.0033 0 0.0103 0.0159 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61758774 rs61758774 rs61758774 rs61758774 1 1538 10 1/0 0,255,255 +rs61758774 7 66274184 G A - RABGEF1 17676 RAB guanine nucleotide exchange factor (GEF) 1 NM_001287061.1 1 3869 1518 NP_001273990.1 substitution synonymous exon GRCh37 66274184 66274184 Chr7(GRCh37):g.66274184G>A 1431 1431 NM_001287061.1:c.1431G>A p.Pro477= p.Pro477Pro 9 609700 312 3' 81.2504 8.40568 0.693604 6.93708 81.2504 8.40568 0.693604 6.93708 0 rs61758774 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.004000 0.005800 0.007346 0.001540 0.003341 0.006502 0.000106 0.006498 0.009870 0.012213 0.007887 0.012213 2036 37 115 66 2 200 1250 315 51 277144 24022 34416 10150 18866 30780 126652 25792 6466 0.000101 0.000000 0.000000 0.000000 0.000000 0.000130 0.000158 0.000155 0.000000 14 0 0 0 0 2 10 2 0 2008 37 115 66 2 196 1230 311 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4398 12924 74 8 82 0.00860465 0.00181571 0.00630478 0.00860465 0.00181571 0.00630478 70 transition G A G>A 0.039 -0.198 P Pro CCG 0.115 P Pro CCA 0.274 477 255 PASS 0.002 0.0023 0.01 . 0.0026 0.0008 0.0028 0.0058 . 0.004 0.0051 . . . . . 0.45614034 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . . 0.0018 0.0063 0.0086 0.0018 0.0063 0.0086 . 0.3106 . . . . . . . . 6.945e-03 . . . 0.0016 0.0065 0.0037 0.0002 0.0092 0.0090 0.0099 0.0065 0.0018 0.0067 0.0037 0.0001 0.0103 0.0086 0.0086 0.0065 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0028 . . . 0.57 0.58 182 . RABGEF1 RABGEF1 . . . . . . 518 0.00797217 64976 504 0.00840196 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs61758774 . . . . . . . . . . . . . . . . . . . . . . . 0.006305 . . . . . 0.0012 0.0070 0.0034 0.0066 0.0001 0.0125 0.0091 0.0073 0.0065 0.0022 0.0099 0.0012 0.0033 0 0.0103 0.0159 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61758774 rs61758774 rs61758774 rs61758774 1 1538 10 1/0 0,255,255 +rs566468064 7 72416279 A G - POM121 19702 POM121 transmembrane nucleoporin NM_001257190.2 1 7041 3000 NP_001244119.1 substitution intron GRCh37 72416279 72416279 Chr7(GRCh37):g.72416279A>G 2857+32 2857+32 NM_001257190.2:c.2857+32A>G p.? p.? 15 15 615753 32 5' 81.1791 9.86249 0.994641 9.00674 81.1791 9.86249 0.994641 9.20194 0 Cryptic Acceptor Strongly Activated 72416290 0.702307 0.002341 75.5461 2.10441 0.004332 75.5461 rs566468064 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000800 0.002000 0.000000 0.002000 0.000000 0.000417 0.000442 0.000432 0.000320 0.000335 0.000744 0.000414 0.000082 0.000492 0.000744 107 10 14 3 6 21 48 2 3 256810 22618 32400 9368 17922 28210 115808 24390 6094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 107 10 14 3 6 21 48 2 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -3.911 176 PASS . . . . . 0.0008 0.001 . . 0.002 0.002 . . . . . 0.10526316 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -1.0080 . . . . . . . . 1.343e-03 . . . 0.0016 0.0016 0.0004 0.0002 0 0.0018 0 0.0028 0.0016 0.0015 0.0004 0.0002 0.0002 0.0017 0 0.0027 . . . . . . intronic intronic intronic . . . 0.0010 . . . . . . ENSG00000196313 POM121 POM121 . . . . . . 26 0.000400148 64976 24 0.000400093 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs566468064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0004 0.0003 0.0002 9.568e-05 0.0004 0.0006 0.0007 0.0006 0.0003 0 0 0.0012 0 0.0002 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs200664890 7 72416293 G A - POM121 19702 POM121 transmembrane nucleoporin NM_001257190.2 1 7041 3000 NP_001244119.1 substitution intron GRCh37 72416293 72416293 Chr7(GRCh37):g.72416293G>A 2857+46 2857+46 NM_001257190.2:c.2857+46G>A p.? p.? 15 15 615753 46 5' 81.1791 9.86249 0.994641 9.00674 81.1791 9.86249 0.994641 8.57752 0 Cryptic Donor Strongly Activated 72416294 0.012117 63.0095 II.56 0.143731 71.9703 rs200664890 yes no Frequency 1 0.000000 0 0.001184 0.000530 0.000497 0.003092 0.000000 0.002749 0.001365 0.000313 0.000917 0.003092 268 11 14 25 0 69 137 7 5 226382 20764 28156 8086 16066 25098 100380 22380 5452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 268 11 14 25 0 69 137 7 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.044 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.2264 . . . . . . . . 2.214e-03 . . . 0.0023 0.0027 0.0003 0.0002 0.0004 0.0032 0.0021 0.0043 0.0026 0.0027 0.0003 0 0.0008 0.0032 0.0024 0.0042 . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.2 182 ENSG00000196313 POM121 POM121 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs200664890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0014 0.0005 0.0032 0 0.0004 0.0016 0.0011 0.0027 0.0003 9.702e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs200664890 rs200664890 1 1538 10 1/0 0,214,255 +. 7 72420420 CT C - NSUN5P2 16609 NOP2/Sun domain family, member 5 pseudogene 2 NR_033323.3 -1 1767 0 deletion exon GRCh37 72420421 72420421 Chr7(GRCh37):g.72420421del 895 895 NR_033323.3:n.895del 7 -37 5' 86.3702 9.25272 0.987812 8.05146 86.3702 9.25272 0.987812 6.02367 0 rs72283468 yes no Frequency/1000G 2 0.000000 0 0.000072 0.000381 0.000087 0.000000 0.000000 0.000000 0.000040 0.000000 0.000465 0.000381 20 9 3 0 0 0 5 0 3 276318 23594 34382 10152 18866 30778 126314 25778 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 9 3 0 0 0 5 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM111453 Ovary 0.001179 848 A 255 Pass 0.01 0.02 0.02 0.02 0.01 . . . . . . . . . . . 0.16455697 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 79 . . . . . . . . . . . . . . . . . . . 4.737e-05 . . . 0 5.539e-05 8.657e-05 0 0 7.156e-05 0 6.062e-05 0 5.674e-05 8.927e-05 0 0 7.389e-05 0 6.097e-05 . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000106133 NSUN5P2 NSUN5P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs72283468 . . . . . . ID\x3dCOSM111453\x3bOCCURENCE\x3d1(ovary) . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.477e-05 8.942e-05 0 0 0 2.694e-05 0.0002 0 0.0006 0.0003 0 0 0 0 0.0001 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs72283468 rs72283468 1 1538 10 1.I 0,6,78 +. 7 72420420 CT C - POM121 19702 POM121 transmembrane nucleoporin NM_001257190.2 1 7041 3000 NP_001244119.1 deletion 3'UTR GRCh37 72420423 72420423 Chr7(GRCh37):g.72420423del *1414 *1414 NM_001257190.2:c.*1414del p.? p.? 16 615753 1557 3' 98.4516 9.40246 0.949348 6.74927 98.4516 9.40246 0.949348 6.74927 0 rs72283468 yes no Frequency/1000G 2 0.000000 0 0.000072 0.000381 0.000087 0.000000 0.000000 0.000000 0.000040 0.000000 0.000465 0.000381 20 9 3 0 0 0 5 0 3 276318 23594 34382 10152 18866 30778 126314 25778 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 9 3 0 0 0 5 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM111453 Ovary 0.001179 848 T 255 Pass 0.01 0.02 0.02 0.02 0.01 . . . . . . . . . . . 0.16455697 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 79 . . . . . . . . . . . . . . . . . . . 4.737e-05 . . . 0 5.539e-05 8.657e-05 0 0 7.156e-05 0 6.062e-05 0 5.674e-05 8.927e-05 0 0 7.389e-05 0 6.097e-05 . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000106133 NSUN5P2 NSUN5P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs72283468 . . . . . . ID\x3dCOSM111453\x3bOCCURENCE\x3d1(ovary) . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.477e-05 8.942e-05 0 0 0 2.694e-05 0.0002 0 0.0006 0.0003 0 0 0 0 0.0001 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs72283468 rs72283468 1 1538 10 1.I 0,6,78 +rs400282 7 72420448 C G - NSUN5P2 16609 NOP2/Sun domain family, member 5 pseudogene 2 NR_033323.3 -1 1767 0 substitution exon GRCh37 72420448 72420448 Chr7(GRCh37):g.72420448C>G 868 868 NR_033323.3:n.868G>C 7 53 3' 85.5562 10.374 0.83841 VII.26 85.5562 10.374 0.83841 VII.01 0 rs400282 yes no Frequency/1000G 2 0.000000 0 0.002196 0.001500 0.004100 0.000000 0.004000 0.001400 0.000544 0.002481 0.000233 0.000000 0.001061 0.000747 0.000294 0.000000 0.000466 0.002481 150 59 8 0 20 23 37 0 3 275620 23776 34396 10138 18858 30776 125754 25478 6444 0.000007 0.000084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 148 57 8 0 20 23 37 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM297005|COSM297005|COSM297005|COSM297005|COSM297005 Urinary tract|Large intestine|Kidney|Central nervous system|Breast 0.001488|0.000896|0.000578|0.000416|0.000408 672|2231|1729|2405|2453 transversion G C G>C 0.362 -1.893 219 PASS . . . . . 0.0015 0.0022 0.0014 . 0.004 0.0041 . . . . . 0.21212122 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 99.0 . . . . . . . . . . -0.6367 . . . . . . . . 5.605e-04 . . . 0.0019 0.0006 0.0002 0.0011 0 0.0004 0 0.0006 0.0020 0.0005 0.0002 0.0014 0 0.0003 0 0.0006 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0022 . . . 0.49 0.72 182 ENSG00000106133 NSUN5P2 NSUN5P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 rs400282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0005 0.0002 0 0.0011 0 0.0003 0.0005 0.0007 0.0023 0.0009 0.0012 0 0.0006 0 0.0003 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs400282 rs400282 rs400282 rs400282 1 1538 10 1/0 0,236,255 +rs400282 7 72420448 C G - POM121 19702 POM121 transmembrane nucleoporin NM_001257190.2 1 7041 3000 NP_001244119.1 substitution 3'UTR GRCh37 72420448 72420448 Chr7(GRCh37):g.72420448C>G *1439 *1439 NM_001257190.2:c.*1439C>G p.? p.? 16 615753 1582 3' 98.4516 9.40246 0.949348 6.74927 98.4516 9.40246 0.949348 6.74927 0 rs400282 yes no Frequency/1000G 2 0.000000 0 0.002196 0.001500 0.004100 0.000000 0.004000 0.001400 0.000544 0.002481 0.000233 0.000000 0.001061 0.000747 0.000294 0.000000 0.000466 0.002481 150 59 8 0 20 23 37 0 3 275620 23776 34396 10138 18858 30776 125754 25478 6444 0.000007 0.000084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 148 57 8 0 20 23 37 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM297005|COSM297005|COSM297005|COSM297005|COSM297005 Urinary tract|Large intestine|Kidney|Central nervous system|Breast 0.001488|0.000896|0.000578|0.000416|0.000408 672|2231|1729|2405|2453 transversion C G C>G 0.362 -1.893 219 PASS . . . . . 0.0015 0.0022 0.0014 . 0.004 0.0041 . . . . . 0.21212122 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 99.0 . . . . . . . . . . -0.6367 . . . . . . . . 5.605e-04 . . . 0.0019 0.0006 0.0002 0.0011 0 0.0004 0 0.0006 0.0020 0.0005 0.0002 0.0014 0 0.0003 0 0.0006 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0022 . . . 0.49 0.72 182 ENSG00000106133 NSUN5P2 NSUN5P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 rs400282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0005 0.0002 0 0.0011 0 0.0003 0.0005 0.0007 0.0023 0.0009 0.0012 0 0.0006 0 0.0003 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs400282 rs400282 rs400282 rs400282 1 1538 10 1/0 0,236,255 +. 7 72431877 T C - TRIM74 17453 Tripartite motif containing 74 NM_001317815.1 -1 1289 753 NP_001304744.1 Q86UV6 substitution splice site GRCh37 72431877 72431877 Chr7(GRCh37):g.72431877T>C 495+4 495+4 NM_001317815.1:c.495+4A>G p.? p.? 3 3 612550 4 5' 70.7608 7.81871 0.894479 XI.57 60.6802 0.437433 0.018141 7.84088 -0.688744 transition A G A>G 1.000 1.900 255 PASS . . . . . . . . . . . . . . . . 0.53216374 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 342.0 . . . . . . . . . . 0.7801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . 0.52 0.34 182 ENSG00000155428 . . . . dist\x3d6575\x3bdist\x3d8288 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71235158 rs71235158 rs71235158 1 1538 10 1/0 0,206,216 +. 7 72497356 C T - SPDYE11 51507 Speedy/RINGO cell cycle regulator family member E11 NM_001351349.1 -1 1048 798 NP_001338278.1 substitution missense exon GRCh37 72497356 72497356 Chr7(GRCh37):g.72497356C>T 158 158 NM_001351349.1:c.158G>A p.Arg53His p.Arg53His 2 28 3' 86.4067 IV.41 0.773455 2.16832 86.4067 IV.41 0.773455 1.59738 0 transition G A G>A 0.457 0.448 R Arg CGT 0.082 H His CAT 0.413 53 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 224 PASS . . . . . . . . . . . . SPDYE8P:uc011keo.2:exon3:c.G158A:p.R53H . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000198305 SPDYE8P SPDYE8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 72497356 C T - SPDYE17 51513 Speedy/RINGO cell cycle regulator family member E17 NM_001351351.1 -1 1483 798 NP_001338280.1 substitution missense exon GRCh37 72497356 72497356 Chr7(GRCh37):g.72497356C>T 158 158 NM_001351351.1:c.158G>A p.Arg53His p.Arg53His 2 28 3' 86.4067 IV.41 0.773455 2.16832 86.4067 IV.41 0.773455 1.59738 0 transition G A G>A 0.457 0.448 R Arg CGT 0.082 H His CAT 0.413 53 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 224 PASS . . . . . . . . . . . . SPDYE8P:uc011keo.2:exon3:c.G158A:p.R53H . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000198305 SPDYE8P SPDYE8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 72497356 C T - SPDYE8P 33771 Speedy/RINGO cell cycle regulator family member E8, pseudogene NR_003664.2 -1 2884 0 substitution exon GRCh37 72497356 72497356 Chr7(GRCh37):g.72497356C>T 729 729 NR_003664.2:n.729G>A 3 28 3' 86.4067 IV.41 0.773455 2.16832 86.4067 IV.41 0.773455 1.59738 0 transition G A G>A 0.457 0.448 224 PASS . . . . . . . . . . . . SPDYE8P:uc011keo.2:exon3:c.G158A:p.R53H . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . . . . . . . . . -0.2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000198305 SPDYE8P SPDYE8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr7:72525418 C/T) 7 72525418 C T Not on a known gene +rs1637126 7 72643877 C G - NCF1B 32522 Neutrophil cytosolic factor 1B pseudogene NR_003186.1 1 1516 0 substitution exon GRCh37 72643877 72643877 Chr7(GRCh37):g.72643877C>G 491 491 NR_003186.1:n.491C>G 4 277 3' 80.4789 X.73 0.821695 XII.19 80.4789 X.73 0.821695 XII.19 0 rs1637126 no no 0 C 0.000000 0 0.001109 0.001267 0.000041 0.000000 0.000524 0.005440 0.000426 0.000221 0.001741 0.005440 188 18 1 0 6 123 28 4 8 169556 14208 24620 8354 11444 22610 65656 18070 4594 0.000047 0.000000 0.000000 0.000000 0.000000 0.000354 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 180 18 1 0 6 115 28 4 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.286 222 PASS . . . . . . . . . . . . NCF1B:uc011ker.1:exon6:c.C656G:p.S219C . . . 0.21719457 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 221.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S164C|NCF1B|Non-coding_transcript|NON_CODING|NR_003186|NR_003186.ex.4) . . . . . . . -0.3183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000182487 NCF1B NCF1B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0009 4.189e-05 0 0 0 0 0.0008 0.0054 0.0022 0.0023 0 0 0.0046 0.0012 0.0022 0.0058 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs1637126 rs1637126 rs1637126 rs1637126 1 1538 10 1/0 0,202,255 +. 7 72712272 G A - POM121B 34004 POM121 transmembrane nucleoporin B (pseudogene) ENST00000411631.2 1 3067 0 substitution exon GRCh37 72712272 72712272 Chr7(GRCh37):g.72712272G>A 1346 1346 ENST00000411631.2:n.1346G>A 1 -166 5' 91.9265 X.44 0.996577 VIII.72 91.9265 X.44 0.996577 VIII.72 0 0.000299 0.000476 0.000000 0.000000 0.001266 0.000000 0.000206 0.000000 0.000000 0.001266 9 4 0 0 2 0 3 0 0 30078 8396 824 282 1580 0 14568 3480 948 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 4 0 0 2 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition G A G>A 0.039 -0.360 181 PASS . . . . . . . . . . . . . . . . 0.11440678 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 236.0 . . . . . . . . . . -0.2756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . 0.4 0.27 182 ENSG00000205578 FKBP6 . . . dist\x3d62293\x3bdist\x3d4241 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0.0013 0 0.0002 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs396094 rs396094 rs396094 rs200951785 1 1538 10 1/0 0,190,255 +rs782323687 7 73922513 G A - GTF2IRD1 4661 GTF2I repeat domain containing 1 NM_001199207.1 1 3495 2931 NP_001186136.1 substitution missense exon GRCh37 73922513 73922513 Chr7(GRCh37):g.73922513G>A 103 103 NM_001199207.1:c.103G>A p.Val35Met p.Val35Met 2 604318 -21 5' 86.8199 10.1256 0.987028 15.4693 86.8199 10.1256 0.987028 15.347 0 Transcription factor II-I rs782323687 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000036 4 0 0 0 0 0 4 0 0 244770 15294 33556 9816 17238 30774 111498 21130 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 59 Exomes COSM5518761 Biliary tract 0.002717 368 transition G A G>A 1.000 3.111 V Val GTG 0.468 M Met ATG 1.000 35 11 8 Chicken 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.52409637 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.675 . @ . . . . . 1 0.270 . . 166.0 . . . . . . . . . . 0.1074 0.156 0.107 c . . . . . 2.368e-05 . . . . . . . . . . . 0 2.838e-05 0 0.0001 0 3.691e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.390 . . exonic exonic exonic . . 0.349 @ . . . . . . ENSG00000006704 GTF2IRD1 GTF2IRD1 . . . 0.968 0.290 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . T 0.246 0.009 . . 37 . 0.384 . . 0.085 . . . 0.326 0.548 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.082 . . 0 0 0 0 0 0 . 0.585 . . 0.497 . . . . . . 0 0.114 . . . . . 0.575 . 0.639 . HET 0.29 . . . . . . . . . . . . . XII.73 . . 4.V III.13 . 0.470000 . . . . . . 0.791 . . III.13 0 1.634e-05 0 0 0 0 3.588e-05 0 0 . . . . . . . . . . 0.924 . 1.021 1.021000 . . 0.470000 . . 1.0E-255 1.000 0.715 . 0.697 0.998 . 0.735 . 0.551 1.021 0.917 . . . . . 1 1538 10 1/0 0,238,250 +rs202074389 7 74217714 G T - GTF2IRD2 30775 GTF2I repeat domain containing 2 NM_173537.3 -1 3583 2850 NP_775808.3 Q86UP8 substitution missense exon GRCh37 74217714 74217714 Chr7(GRCh37):g.74217714G>T 1142 1142 NM_173537.3:c.1142C>A p.Ala381Asp p.Ala381Asp 14 608899 -76 5' 100 X.83 0.998252 6.94396 100 X.83 0.998252 6.87131 0 GTF2I-like repeat rs202074389 no no 0 G 0.000000 0 0.000317 0.000228 0.000000 0.003731 0.000000 0.000000 0.000344 0.000432 0.001205 0.003731 8 1 0 2 0 0 3 1 1 25236 4392 4238 536 1520 2686 8718 2316 830 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 2 0 0 3 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 1.000 2.869 A Ala GCC 0.403 D Asp GAC 0.539 381 12 9 Cow -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Deleterious 0 IV.32 244 PASS . . . . . . . . . . . . . GTF2IRD2:NM_173537:exon14:c.C1142A:p.A381D . . 0.2843602 . . @ 120 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.643 . . 422.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A381D|GTF2IRD2|mRNA|CODING|NM_173537|NM_173537.ex.14) . . . . . . . 0.2526 0.199 0.253 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.419 @ . . . 0.61 0.6 182 ENSG00000196275 GTF2IRD2 GTF2IRD2 . . . 0.002 0.086 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.374 0.016 . . 37 . 0.457 . . 0.529 . . . 0.212 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 . . . . . . 0.605 . 0.671 . HET 0.04 rs202074389 . . . . . . . . . . . . 13.4628 . . III.74 III.74 . 0.010000 . . . . . . 0.411 . . III.74 0.0003 0.0003 0 0.004 0 0 0.0003 0.0017 0 0 0.0004 0 0 0 0.0005 0.0007 0 . . 0.428 . 2.117 2.117000 . . 0.010000 . . 1.0000000000000001E-244 1.000 0.715 . 0.392 0.997 . 0.726 . 0.538 2.117 0.917 . rs2539034 rs2539034 rs2539034 rs202074389 1 1538 10 1/0 0,181,238 +. 7 74267980 G A - GTF2IRD2 30775 GTF2I repeat domain containing 2 NM_173537.3 -1 3583 2850 NP_775808.3 Q86UP8 substitution upstream GRCh37 74267980 74267980 Chr7(GRCh37):g.74267980G>A -323 -323 NM_173537.3:c.-323C>T p.? p.? 1 608899 -318 5' 84.8523 9.73418 0.994241 14.6429 84.8523 9.73418 0.994241 14.6429 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 0.205 223 PASS . . . . . . . . . . . . . . . . 0.22167487 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 203.0 . . . . . . . . . . 1.0779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream upstream . . . @ . . . . . . ENSG00000160828 GTF2IRD2 GTF2IRD2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs62476562 7 74300569 G A - STAG3L2 33886 Stromal antigen 3-like 2 (pseudogene) NR_040584.2 -1 1884 0 substitution exon GRCh37 74300569 74300569 Chr7(GRCh37):g.74300569G>A 496 496 NR_040584.2:n.496C>T 4 -30 5' 90.0021 8.68007 0.992362 XI.61 90.0021 8.68007 0.992362 X.57 0 rs62476562 yes no Frequency/1000G 2 G 0.000000 0 0.000451 0.000666 0.000289 0.000000 0.000000 0.002664 0.000242 0.000126 0.000000 0.002664 31 6 3 0 0 15 6 1 0 68710 9006 10372 1178 7870 5630 24768 7950 1936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 6 3 0 0 15 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 1.013 255 PASS 0.09 0.05 0.03 0.04 0.06 . . . . . . . . . . . 0.3560606 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 132.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R166C|STAG3L2|Non-coding_transcript|NON_CODING|NR_040584|NR_040584.ex.4) . . . . . . . -1.0654 . . . . . . . . 1.522e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.32 182 ENSG00000160828 STAG3L2 STAG3L2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 rs62476562 . . . . . . ID\x3dCOSM248727\x3bOCCURENCE\x3d1(pancreas) 0.05402930402930403 0.08536585365853659 0.027624309392265192 0.04020979020979021 0.05672823218997362 II.76 . . . . . 0.010000 P0CL84 . . . . . . . . . 0.0002 0.0004 0.0003 0 0 0 0.0001 0 0.0027 0.0011 0.0006 0 0 0 0.0004 0.0005 0 . . . . -0.000 -0.000000 . . 0.010000 . . 1.0E-255 . . . . . . . . . -0.000 . 0.09 rs62476562 rs62476562 rs62476562 rs201662874 1 1538 10 1/0 0,238,255 +. 7 74508239 C T - GTF2IRD2B 33125 GTF2I repeat domain containing 2B NM_001003795.2 1 3585 2850 NP_001003795.1 Q6EKJ0 substitution upstream GRCh37 74508239 74508239 Chr7(GRCh37):g.74508239C>T -323 -323 NM_001003795.2:c.-323C>T p.? p.? 1 608900 -318 5' 84.8523 9.73418 0.994241 14.6429 84.8523 9.73418 0.994241 14.6429 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 1.255 239 PASS . . . . . . . . . . . . . . . . 0.2972973 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 185.0 . . . . . . . . . . 0.1449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000174428 GTF2IRD2B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +rs370642824 7 74558397 C A - GTF2IRD2B 33125 GTF2I repeat domain containing 2B NM_001003795.2 1 3585 2850 NP_001003795.1 Q6EKJ0 substitution missense exon GRCh37 74558397 74558397 Chr7(GRCh37):g.74558397C>A 1142 1142 NM_001003795.2:c.1142C>A p.Ala381Asp p.Ala381Asp 14 608900 -76 5' 100 X.83 0.998252 6.94396 100 X.83 0.998252 6.87131 0 GTF2I-like repeat rs370642824 no no 0 C 0.000000 0 COSM5428616 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 1.000 2.788 A Ala GCC 0.403 D Asp GAC 0.539 381 10 5 Mouse -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 237 PASS . . . . . . . . . . . . . . . . 0.26174498 . . @ 117 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.496 . @ . . . . . 1 0.726 . . 447.0 . . . . . . . . . . 0.1214 0.050 0.121 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.344 @ . . . 0.42 0.58 182 ENSG00000174428 GTF2IRD2B . . . . 0.001 0.077 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.291 0.011 . . 37 . 0.445 . . 0.478 . . . 0.212 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.764 . . 0.774 . . . . . . 0 . . . . . . 0.588 . 0.680 . HET 0.02 rs370642824 . . . . . . . . . . . . 13.1605 . . 3.VIII 3.VIII . 0.100000 Q6EKJ0 . . . . . 0.447 . . 3.VIII . . . . . . . . . . . . . . . . . . . 0.428 . 1.691 1.691000 . . 0.100000 . . 1.0E-237 1.000 0.715 . 0.250 0.995 . 0.623 . 0.298 1.691 0.871 . rs2539034 rs2539034 rs2539034 rs2539034 1 1538 10 1/0 0,176,243 +rs587684960 7 74563752 C T - GTF2IRD2B 33125 GTF2I repeat domain containing 2B NM_001003795.2 1 3585 2850 NP_001003795.1 Q6EKJ0 substitution missense exon GRCh37 74563752 74563752 Chr7(GRCh37):g.74563752C>T 1499 1499 NM_001003795.2:c.1499C>T p.Ser500Leu p.Ser500Leu 16 608900 253 3' 68.4963 5.75947 0.02174 II.83 68.4963 5.75947 0.02174 II.83 0 rs587684960 yes no Frequency/1000G 2 C 0.000599 T 3 0.000599 0.000000 0.001000 0.000000 0.000000 0.002900 0.000071 0.000000 0.000202 0.000000 0.000000 0.000118 0.000043 0.000000 0.000000 0.000202 5 0 3 0 0 1 1 0 0 70098 5570 14832 2410 8196 8466 23184 5512 1928 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 3 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes COSM5424527|COSM5424527 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000850 747|3530 transition C T C>T 0.008 1.174 S Ser TCG 0.056 L Leu TTG 0.127 500 10 5 Cat -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 229.59 30.92 Tolerated 0.14 III.77 good 3.356E-1 0.09105 188 PASS . . . . . . 0.0006 0.0029 . . 0.001 . . . . . 0.13025211 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.220 . @ . . . . . 1 0.159 . . 238.0 . . . . . . . . . . -1.0662 -1.101 -1.066 c . . . . . 2.971e-05 . . . 0 0.0006 0.0111 0 0 0 0 0 0 0.0017 0.0132 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.221 0.0006 . . . 0.52 0.49 182 ENSG00000174428 GTF2IRD2B . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.043 . . 0.420 . . . 0.430 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.270 . . 0.176 . . . . . . 0 . . . . . . 0.214 . 0.211 . LowAF 0.66 rs587684960 . . . . . . . . . . . . VI.51 . . I.53 I.53 . 0.710000 Q6EKJ0 . . . . . 0.037 . . . 0 7.133e-05 0.0002 0 0 0 4.313e-05 0 0.0001 . . . . . . . . . . 0.558 . 1.164 1.164000 . . 0.710000 . . 1.0E-188 0.061 0.216 . 0.237 0.142 . 0.352 . 0.277 1.164 0.356 . rs2529320 rs2529320 . . 1 1538 10 1/0 0,191,255 +. 7 74578192 T C - NCF1C 32523 Neutrophil cytosolic factor 1C pseudogene NR_003187.3 -1 1442 0 substitution exon GRCh37 74578192 74578192 Chr7(GRCh37):g.74578192T>C 674 674 NR_003187.3:n.674A>G 7 47 3' 77.1359 7.05517 0.326369 7.70508 77.1359 7.05517 0.326369 8.16932 0 0.003197 0.007506 0.003205 0.000000 0.000000 0.000000 0.000608 0.000000 0.000000 0.007506 29 26 1 0 0 0 2 0 0 9072 3464 312 68 474 0 3290 1210 254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 26 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition A G A>G 0.937 -1.167 185 PASS . . . . . . . . . . . . NCF1C:uc003ubv.3:exon7:c.A549G:p.A183A . . . 0.125 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H225R|NCF1C|Non-coding_transcript|NON_CODING|NR_003187|NR_003187.ex.7) . . . . . . . 0.0556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.54 0.39 182 ENSG00000165178 NCF1C NCF1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0075 0.0032 0.0032 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs1637127 rs1637127 rs1637127 rs1637127 1 1538 10 1/0 0,255,255 +. 7 74618293 C T - GTF2IP1 4660 General transcription factor IIi, pseudogene 1 NR_002206.3 -1 3631 0 substitution exon GRCh37 74618293 74618293 Chr7(GRCh37):g.74618293C>T 1187 1187 NR_002206.3:n.1187G>A 9 -36 5' 87.3609 X.15 0.995097 1.98173 87.3609 X.15 0.995097 1.60041 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 262 22 0 2 0 0 214 16 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 158 Genomes transition G A G>A 1.000 2.869 233 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 19.0 . . . . . . . . . . I.76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000232561 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.II . . . . . . . . . 0 0 . 0 . 0 0 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr7:74911469 G/A) 7 74911469 G A Not on a known gene +. (chr7:74939489 G/A) 7 74939489 G A Not on a known gene +. (chr7:74967512 G/A) 7 74967512 G A Not on a known gene +. 7 74994595 CCTGGAGCT C - STAG3L1 33852 Stromal antigen 3-like 1 NM_018991.2 1 1826 618 NP_061864.2 deletion frameshift exon GRCh37 74994598 74994605 Chr7(GRCh37):g.74994598_74994605del 243 250 NM_018991.2:c.243_250del p.Glu82Hisfs*32 p.Glu82Hisfs*32 5 -18 5' 90.0021 8.68007 0.992362 XI.61 90.0021 8.68007 0.992362 11.056 0 Armadillo-type fold 0.000907 0.001532 0.000000 0.000000 0.000000 0.000000 0.000700 0.001238 0.000000 0.001532 22 10 0 0 0 0 8 4 0 24256 6528 730 198 1362 0 11434 3230 774 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 10 0 0 0 0 8 4 0 0 0 0 0 0 0 0 0 0 RF 26 Genomes GGAGCTCT 255 Pass . . . . . . . . . . . . STAG3L1:uc022agf.1:exon3:c.241_248del:p.L81fs . . . 0.2013889 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 144 . . FRAME_SHIFT(HIGH||||STAG3L1|Non-coding_transcript|NON_CODING|NR_040583|NR_040583.ex.7) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000205583 STAG3L1 STAG3L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0009 0 0 0 0.0012 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72235645 . . 1 1538 10 1.I 0,8,70 +rs236600 7 74994854 G A - STAG3L1 33852 Stromal antigen 3-like 1 NM_018991.2 1 1826 618 NP_061864.2 substitution missense exon GRCh37 74994854 74994854 Chr7(GRCh37):g.74994854G>A 289 289 NM_018991.2:c.289G>A p.Val97Met p.Val97Met 6 22 3' 92.6386 12.1662 0.96217 11.734 92.6386 12.1662 0.96217 XI.29 0 Armadillo-type fold rs236600 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.929 -0.117 V Val GTG 0.468 M Met ATG 1.000 97 11 1 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 30.92 0.00 Tolerated 0.6 II.91 good 2.031E-1 0.001465 195 PASS . . . . . . . . . . . . STAG3L1:uc022agf.1:exon4:c.G289A:p.V97M . . . 0.14666666 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S265|STAG3L1|Non-coding_transcript|NON_CODING|NR_040583|NR_040583.ex.8) . . . . . . . -1.5432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.56 0.3 182 ENSG00000205583 STAG3L1 STAG3L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.29 . . . . . . . . . . . . . I.39 . . 0.717 -1.43 . 0.250000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.764 -1.764000 . . 0.250000 . . 9.999999999999999E-196 . . . . . . . . . -1.764 . . rs236600 rs236600 rs236600 rs236600 1 1538 10 1.I 0,0,0 +. 7 74994907 C A - STAG3L1 33852 Stromal antigen 3-like 1 NM_018991.2 1 1826 618 NP_061864.2 substitution synonymous exon GRCh37 74994907 74994907 Chr7(GRCh37):g.74994907C>A 342 342 NM_018991.2:c.342C>A p.Ile114= p.Ile114Ile 6 -6 5' 79.3736 6.43374 0.96248 3.86194 79.3736 6.43374 0.88386 3.82216 -0.0272283 Armadillo-type fold 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 718 22 94 10 78 0 298 194 22 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 1.000 0.044 I Ile ATC 0.481 I Ile ATA 0.163 114 192 PASS . . . . . . . . . . . . STAG3L1:uc022agf.1:exon4:c.C342A:p.I114I . . . 0.140625 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S283Y|STAG3L1|Non-coding_transcript|NON_CODING|NR_040583|NR_040583.ex.8) . . . . . . . -0.1371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.55 0.28 182 ENSG00000205583 STAG3L1 STAG3L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs3735506 rs3735506 rs3735506 rs3735506 1 1538 10 1/0 0,249,255 +. 7 75033027 A G - TRIM73 18162 Tripartite motif containing 73 NM_198924.3 1 1358 753 NP_944606.2 Q86UV7 substitution splice site GRCh37 75033027 75033027 Chr7(GRCh37):g.75033027A>G 495+4 495+4 NM_198924.3:c.495+4A>G p.? p.? 3 3 612549 4 5' 70.7608 7.81871 0.894479 XI.57 60.6802 0.437433 0.018141 7.84088 -0.688744 transition A G A>G 1.000 2.223 255 PASS . . . . . . . . . . . . . . . . 0.45183486 . . @ 197 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 436.0 . . INTRON(MODIFIER||||TRIM73|mRNA|CODING|NM_198924|) . . . . . . . 1.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.38 182 ENSG00000178809 TRIM73 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.878 . . . . . . II.64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71235158 rs71235158 rs71235158 1 1538 10 1/0 0,195,224 +rs2533484 7 75047993 G A - NSUN5P1 19146 NOP2/Sun domain family, member 5 pseudogene 1 NR_104013.1 1 1881 0 substitution downstream GRCh37 75047993 75047993 Chr7(GRCh37):g.75047993G>A *1922 *1922 NR_104013.1:n.*1922G>A p.? p.? 8 2440 3' 97.3709 X.37 0.913489 X.24 97.3709 X.37 0.913489 X.24 0 rs2533484 no no 0 0.000000 0 0.000066 0.000115 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000115 2 1 0 0 0 0 1 0 0 30494 8676 826 282 1606 0 14658 3484 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 34 Genomes transition G A G>A 0.000 0.528 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . . . . . . . . . -0.0311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.78 182 ENSG00000135213 POM121C POM121C . uc003udk.4:c.*86C>T NM_001099415:c.*86C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.96 . . . . . . . . . 0.0001 6.559e-05 0 0 0 0 6.822e-05 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2533484 rs2533484 rs2533484 rs2533484 1 1538 10 1/0 0,211,255 +rs2533484 7 75047993 G A - POM121C 34005 POM121 transmembrane nucleoporin C NM_001099415.2 -1 5865 2964 NP_001092885.2 substitution 3'UTR GRCh37 75047993 75047993 Chr7(GRCh37):g.75047993G>A *86 *86 NM_001099415.2:c.*86C>T p.? p.? 15 615754 184 3' 89.9675 8.23249 0.885314 5.10775 89.9675 8.23249 0.885314 5.10775 0 rs2533484 no no 0 0.000000 0 0.000066 0.000115 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000115 2 1 0 0 0 0 1 0 0 30494 8676 826 282 1606 0 14658 3484 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 34 Genomes transition C T C>T 0.000 0.528 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . . . . . . . . . -0.0311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.78 182 ENSG00000135213 POM121C POM121C . uc003udk.4:c.*86C>T NM_001099415:c.*86C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.96 . . . . . . . . . 0.0001 6.559e-05 0 0 0 0 6.822e-05 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2533484 rs2533484 rs2533484 rs2533484 1 1538 10 1/0 0,211,255 +. 7 75126114 A T - SPDYE5 35464 Speedy/RINGO cell cycle regulator family member E5 NM_001306141.1 1 3147 1209 NP_001293070.1 substitution missense exon GRCh37 75126114 75126114 Chr7(GRCh37):g.75126114A>T 497 497 NM_001306141.1:c.497A>T p.Glu166Val p.Glu166Val 3 -114 5' 71.9513 5.0016 0.427041 4.48279 71.9513 5.0016 0.427041 4.48279 0 transversion A T A>T 0.012 0.448 E Glu GAG 0.583 V Val GTG 0.468 166 12 5 Dog -3 -2 -4 0.92 0 12.III 5.IX 83 84 121 C0 353.86 0.00 Deleterious 0.01 III.84 200 PASS . . . . . . . . . . . . SPDYE5:uc011kfy.2:exon2:c.A377T:p.E126V SPDYE5:NM_001306141:exon3:c.A497T:p.E166V . . 0.16216215 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.083 . @ . . . . . 1 0.021 . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gTg|E166V|SPDYE5|mRNA|CODING|NM_001306141|NM_001306141.ex.3) . . . . . . . -0.2230 -0.201 -0.223 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.158 @ . . . . . . ENSG00000170092 SPDYE5 SPDYE5 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.380 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.637 . . 0.722 . . . . . . 0 . . . . . . . . 0.204 . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.032 . . . . . . . . . . . . . . . . . . . . . . 0.047 . . . . . . . . 1.0E-200 0.000 0.063 . 0.114 0.078 . 0.076 . 0.282 . 0.391 . . . . . 1 1538 10 1/0 0,255,255 +. 7 75508594 CCGGGATCG C - RHBDD2 23082 Rhomboid domain containing 2 NM_001040456.2 1 1763 1095 NP_001035546.1 Q6NTF9 deletion intron GRCh37 75508599 75508606 Chr7(GRCh37):g.75508599_75508606del 178+21 178+28 NM_001040456.2:c.178+21_178+28del p.? p.? 1 1 615203 21 5' 89.5524 9.59704 0.994201 14.1987 89.5524 9.59704 0.994201 14.6786 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000348 0.000027 2 0 0 0 0 0 1 0 1 99112 10930 13416 4500 4818 14352 37440 10786 2870 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes ATCGCGGG 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000005486 RHBDD2 RHBDD2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.467e-05 0 0 0 0 4.454e-05 0 0 0 3.231e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,48 +rs4732519 (chr7:75621827 A/G) 7 75621827 A G Transcript NM_001317803.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TMEM120A +rs181480573 (chr7:75915187 C/T) 7 75915187 C T Not on a known gene +. 7 76023131 A AG - SSC4D 14461 Scavenger receptor cysteine rich family, 4 domains NM_080744.1 -1 2806 1728 NP_542782.1 Q8WTU2 duplication intron GRCh37 76023131 76023132 Chr7(GRCh37):g.76023132dup 1021+15 1021+15 NM_080744.1:c.1021+15dup p.? p.? 8 8 607639 15 5' 87.5573 9.72159 0.9918 14.805 87.5573 9.72159 0.9918 14.6743 0 rs35508921 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999955 1.000000 1.000000 1.000000 0.999925 0.999958 0.999930 0.999949 1.000000 1.000000 200123 17718 26708 8834 13401 23621 85302 19569 4970 200132 17718 26708 8834 13402 23622 85308 19570 4970 0.999910 1.000000 1.000000 1.000000 0.999851 0.999915 0.999859 0.999898 1.000000 100057 8859 13354 4417 6700 11810 42648 9784 2485 7 0 0 0 1 0 5 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 16 5 21 8196 4225 12421 0.00194837 0.00118203 0.00168783 0.998052 0.998818 0.998312 17 C 255 Pass 1. 0.99 0.99 0.98 0.99 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . . 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 65 . . . 1. 1. 1. 1. 1. 1. . . . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 1 1 0.9999 1 0.9999 1 0.9997 1 1.0000 1 0.9999 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000146700 SRCRB4D SSC4D . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs35508921 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.999679 . . . . . 1 1.0000 1 1 0.9999 0.9999 0.9999 1 1.0000 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs35508921 rs35508921 rs35508921 1 1538 255 1.I 0,0,255 +rs1638102 7 76126857 T C - DTX2 15973 Deltex homolog 2 (Drosophila) NM_020892.2 1 2819 1869 NP_065943.2 Q86UW9 substitution intron GRCh37 76126857 76126857 Chr7(GRCh37):g.76126857T>C 1150+63 1150+63 NM_020892.2:c.1150+63T>C p.? p.? 7 7 613141 63 5' 77.2199 6.43699 0.848188 2.57676 77.2199 6.43699 0.848188 2.40324 0 rs1638102 yes no Frequency/1000G 2 0.000000 0 0.238019 0.268500 0.264800 0.212300 0.207800 0.223300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14816 2738 422 132 764 0 7810 2442 508 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition T C T>C 0.110 -0.360 250 PASS . . . . . 0.27 0.24 0.22 0.21 0.21 0.26 . . . . . 0.30952382 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . 0.8023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2380 . . . 0.48 0.31 182 ENSG00000091073 DTX2 DTX2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1638102 0.098 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.098 rs1638102 rs1638102 rs1638102 rs143795903 1 1538 10 1/0 0,0,0 +rs371801097 7 76129519 A G - DTX2 15973 Deltex homolog 2 (Drosophila) NM_020892.2 1 2819 1869 NP_065943.2 Q86UW9 substitution intron GRCh37 76129519 76129519 Chr7(GRCh37):g.76129519A>G 1151-239 1151-239 NM_020892.2:c.1151-239A>G p.? p.? 8 7 613141 -239 3' 87.9159 XI.03 0.978793 XII.55 87.9159 XI.03 0.978793 XII.55 0 rs371801097 yes no Frequency/1000G 2 0.000000 0 0.005192 0.014400 0.003100 0.004000 0.000000 0.000000 0.006188 0.014700 0.003787 0.000000 0.007556 0.004171 0.005864 0.005485 0.004565 0.014700 607 160 65 0 74 49 215 31 13 98088 10884 17166 3332 9794 11748 36664 5652 2848 0.000163 0.000551 0.000000 0.000000 0.000000 0.000170 0.000218 0.000000 0.000000 8 3 0 0 0 1 4 0 0 591 154 65 0 74 47 207 31 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -0.763 229 PASS . . . . . 0.014 0.0052 . 0.004 . 0.0031 . DTX2:uc003ufm.4:exon1:c.A51G:p.P17P . . . 0.24285714 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.6940 . . . . . . . . 2.635e-03 . . . 0.1579 0.0195 0 0 . 0.0106 0 0.0109 0.1364 0.0162 0 0 . 0.0152 0 0.0109 . synonymous_SNV . . . . intronic exonic intronic . . . 0.0052 . . . 0.52 0.3 182 ENSG00000091073 DTX2 DTX2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371801097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0166 0.0055 0.0038 0 0.0076 0.0041 0.0052 0.0049 0.0042 0.0129 0.0088 0.0034 0 0.0075 0.0070 0.0078 0.0034 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs2302543 rs2302543 rs2302543 rs2302543 1 1538 10 1/0 0,254,255 +. 7 76140912 CCA C - UPK3B 21444 Uroplakin 3B NM_030570.3 1 1618 963 NP_085047.1 Q9BT76 deletion intron GRCh37 76140914 76140915 Chr7(GRCh37):g.76140914_76140915del 401-60 401-59 NM_030570.3:c.401-60_401-59del p.? p.? 2 1 611887 -59 3' 83.3883 XI.57 0.879702 13.016 83.3883 XI.57 0.879702 13.8991 0 76140914 -70.4118 rs141092673 no no 0 0.000000 0 0.002437 0.002452 0.001377 0.000000 0.000626 0.000000 0.002911 0.002343 0.001263 0.002911 59 16 1 0 1 0 33 7 1 24206 6524 726 240 1598 0 11338 2988 792 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 16 1 0 1 0 33 7 1 0 0 0 0 0 0 0 0 0 RF 40 Genomes AC 255 Pass . . . . . . . . . . . . . . . . 0.37209302 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000243566 UPK3B UPK3B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141092673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0024 0.0014 0 0.0006 0.0023 0.0029 0.0013 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72002544 rs72002544 rs141092673 1 1538 10 1.I 0,12,43 +. 7 76180721 A G - UPK3B 21444 Uroplakin 3B NM_030570.3 1 1618 963 NP_085047.1 Q9BT76 substitution intron GRCh37 76180721 76180721 Chr7(GRCh37):g.76180721A>G *200+35953 *200+35953 NM_030570.3:c.*200+35953A>G p.? p.? 4 4 611887 35953 5' 69.9548 0 0 0 69.9548 0 0 0 0 transition A G A>G 0.012 0.125 223 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||LOC100133091|Non-coding_transcript|NON_CODING|NR_029411|) . . . . . . . -0.3409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.35 0.16 182 ENSG00000205485 . LOC100133091 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . rs112324306 rs112324306 1 1538 10 1/0 0,251,255 +. (chr7:76658741 C/T) 7 76658741 C T Not on a known gene +rs35545354 7 79828617 T C - GNAI1 4384 Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 NM_002069.5 1 3318 1065 NP_002060.4 P63096 substitution missense exon GRCh37 79828617 79828617 Chr7(GRCh37):g.79828617T>C 380 380 NM_002069.5:c.380T>C p.Ile127Thr p.Ile127Thr 4 139310 77 3' 84.9781 7.36744 0.222618 2.17065 84.9781 7.36744 0.222618 2.45183 0 Guanine nucleotide binding protein (G-protein), alpha subunit rs35545354 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.000800 0.000000 0.000000 0.007000 0.001400 0.002439 0.000666 0.000379 0.001380 0.000000 0.000390 0.004571 0.001357 0.001085 0.004571 675 16 13 14 0 12 578 35 7 276734 24020 34312 10148 18820 30746 126448 25786 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 675 16 13 14 0 12 578 35 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8552 4400 12952 48 6 54 0.0055814 0.00136178 0.00415193 0.0055814 0.00136178 0.00415193 107 transition T C T>C 1.000 5.290 I Ile ATA 0.163 T Thr ACA 0.280 127 12 9 Zebrafish -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 234.86 46.93 Deleterious 0.02 IV.32 bad 6.751E-4 0.0004188 255 PASS . 0.0032 0.0028 . 0.01 0.0008 0.0018 0.0014 . 0.007 . . . . . . 0.50769234 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.602 . @ . . . . . 1 0.940 . . 65.0 . . . 0.0014 0.0042 0.0056 0.0014 0.0042 0.0056 . 0.4574 0.562 0.457 c . . . . . 2.463e-03 . . . 0.0008 0.0020 0.0002 0 0.0003 0.0039 0 0.0003 0.0009 0.0023 0.0002 0 0.0009 0.0041 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.911 . . exonic exonic exonic . . 0.987 0.0018 . . . 0.55 0.49 182 ENSG00000127955 GNAI1 GNAI1 . . . 1.000 0.747 . 218 0.00335508 64976 210 0.00350082 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.885 0.237 . . 37 . 0.914 . . 0.898 . . . 0.821 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.642 . . 0 0 0 0 0 0 . 0.288 . . 0.455 . . . . . . 0 0.784 . . . . . 0.848 . 0.864 . HET 0 rs35545354 . . . . . . . 0.003205128205128205 0.0 0.0027624309392265192 0.0 0.0079155672823219 16.6277 0.001873 . 6.VII 6.VII . . P63096 . . Name\x3dnsv888512 0.004152 . 0.816 . . 6.VII 0.0007 0.0024 0.0004 0.0014 0 0.0014 0.0045 0.0013 0.0004 0.0007 0.0028 0 0 0 0.0011 0.0052 0 . . 0.609 . 2.330 2.330000 . . . . . 1.0E-255 1.000 0.715 . 0.888 0.997 . 0.886 . 0.807 2.330 0.991 0.01 rs35545354 rs35545354 rs35545354 rs35545354 1 1538 10 1/0 0,255,255 +rs148910227 7 80302116 C T - CD36 1663 CD36 molecule (thrombospondin receptor) NM_000072.3 1 2106 1419 NP_000063.2 P16671 substitution missense exon GRCh37 80302116 80302116 Chr7(GRCh37):g.80302116C>T 1156 1156 NM_000072.3:c.1156C>T p.Arg386Trp p.Arg386Trp 12 173510 31 3' 86.5716 9.26841 0.982281 VI.22 86.5716 9.26841 0.982281 6.74604 0 Cryptic Acceptor Strongly Activated 80302125 1.054 0.044745 67.7265 2.15462 0.098085 70.4384 CD36 antigen rs148910227 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.002300 0.000000 0.003000 0.000000 0.001400 0.000548 0.001170 0.000409 0.000000 0.002886 0.001272 0.000111 0.000000 0.000312 0.002886 151 28 14 0 54 39 14 0 2 275560 23928 34220 10122 18710 30658 125828 25690 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 28 14 0 54 39 14 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4396 12991 1 4 5 0.000116333 0.000909091 0.000384734 0.000116333 0.000909091 0.000384734 63 CM068761 CD36 deficiency 16493488 DM transition C T C>T 1.000 1.174 R Arg CGG 0.207 W Trp TGG 1.000 386 13 11 Fruitfly -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 252.53 47.30 Deleterious 0.02 II.96 good 4.551E-2 0.1216 255 PASS . 0.0005 . 0.0017 . 0.0023 0.0014 0.0014 0.003 . . . . . . . 0.4848485 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.914 . . 33.0 . . . 0.0009 0.0004 0.0001 0.0009 0.0004 0.0001 . 0.3164 0.205 0.316 c . . . . . 4.501e-04 . . . 0.0010 0.0005 9.337e-05 0.0017 0 0.0001 0 0.0013 0.0012 0.0005 9.626e-05 0.0018 0 6.163e-05 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.838 . . exonic exonic exonic . . 0.356 0.0014 . . . 0.25 0.59 182 ENSG00000135218 CD36 CD36 . . . 0.667 0.223 . 8 0.000123122 64976 2 3.33411e-05 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.947 0.469 . . 37 . 0.921 . . 0.929 . . . 0.943 0.810 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.912 . . . . . 0.597 . 0.895 . HET 0 rs148910227 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0017482517482517483 0.0 13.3225 8.03E-4 . 5.VI III.19 . . P16671 . . . 0.000385 . 0.407 . . III.19 0.0013 0.0005 0.0004 0 0.0027 0 0.0001 0.0004 0.0013 0.0010 0.0006 0 0 0.0050 0 6.692e-05 0 . . 0.246 . 0.581 0.581000 . . . . . 1.0E-255 1.000 0.715 . 0.486 0.999 . 0.264 . 0.125 0.581 0.871 0.0017 . . rs148910227 rs148910227 1 1538 10 1/0 0,255,255 +rs78174406 7 81643813 T C - CACNA2D1 1399 Calcium voltage-gated channel auxiliary subunit alpha2delta 1 NM_000722.3 -1 7571 3276 NP_000713.2 substitution intron GRCh37 81643813 81643813 Chr7(GRCh37):g.81643813T>C 1144-18 1144-18 NM_000722.3:c.1144-18A>G p.? p.? 13 12 114204 -18 3' 86.8736 8.26767 0.799672 V.45 86.8736 9.05597 0.795306 5.95767 0.0299626 rs78174406 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.001000 0.000000 0.012900 0.005800 0.005127 0.001167 0.007051 0.003556 0.000000 0.002706 0.007404 0.002024 0.006359 0.007404 1416 28 242 36 0 83 934 52 41 276198 23996 34322 10124 18778 30676 126156 25698 6448 0.000036 0.000000 0.000058 0.000000 0.000000 0.000130 0.000016 0.000000 0.000310 5 0 1 0 0 2 1 0 1 1406 28 240 36 0 79 932 52 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8530 4395 12925 68 11 79 0.00790882 0.0024966 0.00607505 0.00790882 0.0024966 0.00607505 57 transition A G A>G 0.000 -4.314 255 PASS . 0.01 0.01 . 0.01 . 0.0036 0.0058 . 0.013 0.001 . . . . . 0.5217391 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . 0.0025 0.0061 0.0079 0.0025 0.0061 0.0079 . -0.5674 . . . . . . . . 4.957e-03 . . . 0.0015 0.0052 0.0049 0 0.0011 0.0083 0.0029 0.0026 0.0014 0.0047 0.0050 0 0.0025 0.0069 0.0029 0.0026 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.0036 . . . 0.54 0.3 182 ENSG00000223770 AK055932 LOC101927356 . . . . . . 437 0.00672556 64976 419 0.00698496 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78174406 . . . . . . . . . . . . . . . . . . . . . . . 0.006075 . . . . . 0.0009 0.0052 0.0069 0.0035 0 0.0018 0.0075 0.0068 0.0027 0.0016 0.0047 0.0143 0.0066 0 0.0034 0.0069 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs78174406 rs78174406 1 1538 10 1/0 0,255,255 +rs201766540 7 87526550 T A - DBF4 17364 DBF4 zinc finger NM_006716.3 1 3907 2025 NP_006707.1 Q9UBU7 substitution intron GRCh37 87526550 87526550 Chr7(GRCh37):g.87526550T>A 635-59 635-59 NM_006716.3:c.635-59T>A p.? p.? 8 7 604281 -59 3' 77.2411 3.52128 0.122561 0 77.2411 3.52128 0.122561 0 0 87526552 -25.7487 rs201766540 no no 0 T 0.000000 0 transversion T A T>A 0.024 1.093 189 PASS . . . . . . . . . . . . . . . . 0.13513513 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||DBF4|mRNA|CODING|NM_006716|) . . . . . . . 0.1225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.09 182 ENSG00000006634 DBF4 DBF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201766540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs201766540 rs201766540 1 1538 10 1/0 0,255,255 +rs553403919 (chr7:97576978 G/A) 7 97576978 G A Not on a known gene +. 7 97833308 GACA G - LMTK2 17880 Lemur tyrosine kinase 2 NM_014916.3 1 8946 4512 NP_055731.2 Q8IWU2 deletion in-frame exon GRCh37 97833313 97833315 Chr7(GRCh37):g.97833313_97833315del 4298 4300 NM_014916.3:c.4298_4300del p.Thr1433del p.Thr1433del 13 610989 58 3' 93.8233 11.438 0.995995 3.38014 93.8233 11.438 0.995995 3.73104 0 New Donor Site 97833312 II.86 0.232 69.3894 rs773211537 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246200 15296 33580 9850 17240 30778 111700 22272 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 72 Exomes CAA 255 Pass . . . . . . . . . . . ENSG00000164715:ENST00000297293:exon13:c.4294_4296del:p.1432_1432del LMTK2:uc003upd.2:exon13:c.4294_4296del:p.1432_1432del LMTK2:NM_014916:exon13:c.4294_4296del:p.1432_1432del . . 0.44444445 . . . 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 99 . . CODON_DELETION(MODERATE||aca/-|T1432-|LMTK2|mRNA|CODING|NM_014916|NM_014916.ex.13) . . . . . . . . . . . . . . . . 7.892e-06 . . . 0 1.106e-05 0 0 0 2.381e-05 0 0 0 9.444e-06 0 0 0 1.844e-05 0 0 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000164715 LMTK2 LMTK2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773211537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.062e-06 0 0 0 0 8.953e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +rs781445701 7 98256572 C T - NPTX2 7953 Neuronal pentraxin II NM_002523.2 1 2713 1296 NP_002514.1 P47972 substitution synonymous exon GRCh37 98256572 98256572 Chr7(GRCh37):g.98256572C>T 984 984 NM_002523.2:c.984C>T p.Asp328= p.Asp328Asp 4 600750 -85 5' 85.557 8.56441 0.839119 X.76 85.557 8.56441 0.839119 X.76 0 Pentaxin rs781445701 yes no Frequency 1 T 0.000000 0 0.000045 0.000131 0.000179 0.000000 0.000000 0.000032 0.000018 0.000000 0.000000 0.000179 11 2 6 0 0 1 2 0 0 246092 15294 33578 9842 17244 30782 111586 22280 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 6 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 59 Exomes COSM246094 Prostate 0.000567 1764 transition C T C>T 0.992 -0.037 D Asp GAC 0.539 D Asp GAT 0.461 328 255 PASS . . . . . . . . . . . ENSG00000106236:ENST00000265634:exon4:c.C984T:p.D328D NPTX2:uc003upl.2:exon4:c.C984T:p.D328D NPTX2:NM_002523:exon4:c.C984T:p.D328D . . 0.43835616 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 146.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D328|NPTX2|mRNA|CODING|NM_002523|NM_002523.ex.4) . . . . . . . 0.9589 . . . . . . . . 4.736e-05 . . . 9.694e-05 6.664e-05 0.0002 0 0 4.813e-05 0 6.061e-05 0.0001 5.66e-05 0.0002 0 0 3.683e-05 0 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.31 182 ENSG00000106236 NPTX2 NPTX2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781445701 . . . . . . ID\x3dCOSM246094\x3bOCCURENCE\x3d1(prostate) . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.47e-05 0.0002 0 0 0 1.792e-05 0 3.249e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +rs150504114 7 99032559 G A - ATP5J2-PTCD1 38844 ATP5J2-PTCD1 readthrough NM_001198879.1 -1 5538 2250 NP_001185808.1 substitution missense exon GRCh37 99032559 99032559 Chr7(GRCh37):g.99032559G>A 454 454 NM_001198879.1:c.454C>T p.Arg152Cys p.Arg152Cys 3 -147 5' 94.6745 X.23 0.990464 9.06998 94.6745 X.23 0.990464 9.06998 0 Cryptic Acceptor Strongly Activated 99032546 4.67722 7.3e-05 66.0569 V.08 0.000261 69.1725 rs150504114 yes no Frequency/1000G 2 G benign 0.000000 0 0.007188 0.000000 0.009200 0.000000 0.008900 0.025900 0.009093 0.001955 0.012870 0.015662 0.000530 0.009616 0.011561 0.000543 0.013455 0.015662 2521 47 443 159 10 296 1465 14 87 277238 24038 34420 10152 18868 30782 126720 25792 6466 0.000173 0.000000 0.000232 0.000000 0.000000 0.000260 0.000237 0.000000 0.000309 24 0 4 0 0 4 15 0 1 2473 47 435 159 10 288 1435 14 85 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8479 4391 12870 121 15 136 0.0140698 0.00340445 0.0104567 0.0140698 0.00340445 0.0104567 133 RCV000487439.1 germline reference population Benign 1 not specified transition C T C>T 0.976 2.707 R Arg CGC 0.190 C Cys TGC 0.552 152 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 255 PASS . 0.01 0.04 . 0.0026 . 0.0072 0.026 . 0.0089 0.0092 . . . . . 0.3882353 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.831 . @ . . . . . 1 0.988 . . 85.0 . . . 0.0034 0.011 0.014 0.0034 0.011 0.014 . 0.5607 0.543 0.561 c . . . . . 9.132e-03 . . . 0.0019 0.0107 0.0118 0.0007 0 0.0153 0.0168 0.0092 0.0019 0.0090 0.0113 0.0006 0.0002 0.0117 0.0187 0.0092 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.854 . . exonic exonic exonic . . 0.969 0.0072 . . . 0.42 0.21 182 . . . . . . 0.361 0.198 . 736 0.0113273 64976 700 0.0116694 59986 Uncertain_significance . 0 . 0.237 . . . . . . . . . 37 . 0.695 . . 0.824 . . . 0.543 0.309 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.846 . . 0 0 0 0 0 0 . 0.715 . . 0.555 . . . . . . 0 0.721 . . . . . 0.725 . 0.424 . HET 0 rs150504114 . . . . . . . 0.006868131868131868 0.0 0.03591160220994475 0.0 0.002638522427440633 15.1788 0.002943 . V.97 V.97 . 0.030000 . . . . 0.010457 . 0.808 . . V.97 0.0016 0.0095 0.0128 0.0158 0.0005 0.0005 0.0120 0.0149 0.0096 0.0025 0.0055 0.0143 0.0099 0.0006 0.0006 0.0084 0.0051 . . 0.730 . 2.837 2.837000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.184 0.229 . 0.677 . 0.656 2.837 0.917 0.04 . . rs150504114 rs150504114 1 1538 10 1/0 0,255,255 +rs150504114 7 99032559 G A - PTCD1 22198 Pentatricopeptide repeat domain 1 NM_015545.3 -1 5505 2103 NP_056360.2 O75127 substitution missense exon GRCh37 99032559 99032559 Chr7(GRCh37):g.99032559G>A 307 307 NM_015545.3:c.307C>T p.Arg103Cys p.Arg103Cys 2 614774 -147 5' 94.6745 X.23 0.990464 9.06998 94.6745 X.23 0.990464 9.06998 0 Cryptic Acceptor Strongly Activated 99032546 4.67722 7.3e-05 66.0569 V.08 0.000261 69.1725 rs150504114 yes no Frequency/1000G 2 G benign 0.000000 0 0.007188 0.000000 0.009200 0.000000 0.008900 0.025900 0.009093 0.001955 0.012870 0.015662 0.000530 0.009616 0.011561 0.000543 0.013455 0.015662 2521 47 443 159 10 296 1465 14 87 277238 24038 34420 10152 18868 30782 126720 25792 6466 0.000173 0.000000 0.000232 0.000000 0.000000 0.000260 0.000237 0.000000 0.000309 24 0 4 0 0 4 15 0 1 2473 47 435 159 10 288 1435 14 85 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8479 4391 12870 121 15 136 0.0140698 0.00340445 0.0104567 0.0140698 0.00340445 0.0104567 133 RCV000487439.1 germline reference population Benign 1 not specified CM109848 Complex I deficiency 20818383 DM? transition C T C>T 0.976 2.707 R Arg CGC 0.190 C Cys TGC 0.552 103 11 4 Tetraodon -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 245.23 50.17 Deleterious 0.02 3.IX good 5.986E-2 0.1692 255 PASS . 0.01 0.04 . 0.0026 . 0.0072 0.026 . 0.0089 0.0092 . . . . . 0.3882353 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.831 . @ . . . . . 1 0.988 . . 85.0 . . . 0.0034 0.011 0.014 0.0034 0.011 0.014 . 0.5607 0.543 0.561 c . . . . . 9.132e-03 . . . 0.0019 0.0107 0.0118 0.0007 0 0.0153 0.0168 0.0092 0.0019 0.0090 0.0113 0.0006 0.0002 0.0117 0.0187 0.0092 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.854 . . exonic exonic exonic . . 0.969 0.0072 . . . 0.42 0.21 182 . . . . . . 0.361 0.198 . 736 0.0113273 64976 700 0.0116694 59986 Uncertain_significance . 0 . 0.237 . . . . . . . . . 37 . 0.695 . . 0.824 . . . 0.543 0.309 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.846 . . 0 0 0 0 0 0 . 0.715 . . 0.555 . . . . . . 0 0.721 . . . . . 0.725 . 0.424 . HET 0 rs150504114 . . . . . . . 0.006868131868131868 0.0 0.03591160220994475 0.0 0.002638522427440633 15.1788 0.002943 . V.97 V.97 . 0.030000 . . . . 0.010457 . 0.808 . . V.97 0.0016 0.0095 0.0128 0.0158 0.0005 0.0005 0.0120 0.0149 0.0096 0.0025 0.0055 0.0143 0.0099 0.0006 0.0006 0.0084 0.0051 . . 0.730 . 2.837 2.837000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.184 0.229 . 0.677 . 0.656 2.837 0.917 0.04 . . rs150504114 rs150504114 1 1538 10 1/0 0,255,255 +rs185350046 7 99710548 G T - TAF6 11540 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa NM_001190415.1 -1 2433 2145 NP_001177344.1 substitution intron GRCh37 99710548 99710548 Chr7(GRCh37):g.99710548G>T 566-8 566-8 NM_001190415.1:c.566-8C>A p.? p.? 6 5 602955 -8 3' 83.5031 9.88522 0.836088 6.75295 80.3075 8.33498 0.439455 3.76763 -0.223162 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30814 8680 836 302 1612 0 14924 3484 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.992 0.851 245 PASS . . . . . . . . . . . . . . . . 0.29310346 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . I.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.59 0.23 182 ENSG00000106290 TAF6 TAF6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.114 . . . . . . II.38 . . . . . . . . . 0 3.245e-05 0 0 0 0 6.701e-05 0 . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs188001537 7 99818084 C A - GATS 29954 GATS, stromal antigen 3 opposite strand NM_178831.6 -1 2740 492 NP_849153.3 Q8NAP1 substitution intron GRCh37 99818084 99818084 Chr7(GRCh37):g.99818084C>A *48+3109 *48+3109 NM_178831.6:c.*48+3109G>T p.? p.? 4 4 3109 5' 76.7703 7.23301 0.849089 6.34532 76.7703 7.23301 0.849089 6.34532 0 rs188001537 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.000000 0.002900 0.001252 0.002009 0.002523 0.004252 0.000000 0.000197 0.001064 0.000000 0.004301 0.004252 335 46 86 42 0 6 128 0 27 267472 22900 34088 9878 18728 30458 120246 24896 6278 0.000007 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 333 46 84 42 0 6 128 0 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8390 4134 12524 6 8 14 0.000714626 0.00193143 0.00111661 0.000714626 0.00193143 0.00111661 10 transversion G T G>T 0.622 1.497 255 PASS 0.002 0.0009 0.0028 . . 0.0008 0.0006 0.0029 . . . ENSG00000213413:ENST00000317271:exon3:c.C466A:p.P156T . PVRIG:NM_024070:exon3:c.C466A:p.P156T . . 0.53125 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.355 . @ . . . . . 1 0.266 . . 64.0 . . . 0.0019 0.0011 0.0007 0.0019 0.0011 0.0007 . -0.7763 -0.814 -0.776 c . . . . . 1.086e-03 . . . 0.0026 0.0019 0.0029 0 0 0.0027 0.0039 0.0001 0.0031 0.0015 0.0029 0 0 0.0019 0.0045 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.295 0.0006 . . . 0.21 0.5 182 ENSG00000213413 PVRIG PVRIG . . . 1.000 0.747 . 81 0.00124661 64976 78 0.0013003 59986 Uncertain_significance . 0 . . . . . . T 0.314 0.013 . . 37 . 0.247 . . 0.136 . . . 0.181 0.513 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.740 . . 0 0 0 0 0 0 . 0.320 . . 0.296 . . . . . . 4 0.097 . . . . . 0.321 . 0.058 . HET 0.17 rs188001537 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0027624309392265192 0.0 0.0 8.491 0.001732 ENST00000317271 III.44 II.53 . 0.150000 Q6DKI7 . . . 0.001117 . 0.205 . . II.53 0.0021 0.0013 0.0025 0.0043 0 0 0.0011 0.0043 0.0002 0.0018 0.0010 0.0024 0.0033 0 0 0.0006 0.0041 . . 0.465 . 0.731 0.731000 . . 0.150000 . . 1.0E-255 0.150 0.234 . 0.181 0.012 . 0.244 . 0.288 0.731 0.548 0.0028 . . rs188001537 rs188001537 1 1538 10 1/0 0,255,255 +rs188001537 7 99818084 C A - PVRIG 32190 Poliovirus receptor related immunoglobulin domain containing NM_024070.3 1 1569 981 NP_076975.2 Q6DKI7 substitution missense exon GRCh37 99818084 99818084 Chr7(GRCh37):g.99818084C>A 466 466 NM_024070.3:c.466C>A p.Pro156Thr p.Pro156Thr 3 617012 -4 5' 80.5382 VI.52 0.822613 8.76069 80.5382 VI.52 0.830394 9.67262 0.00315296 rs188001537 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.000000 0.002900 0.001252 0.002009 0.002523 0.004252 0.000000 0.000197 0.001064 0.000000 0.004301 0.004252 335 46 86 42 0 6 128 0 27 267472 22900 34088 9878 18728 30458 120246 24896 6278 0.000007 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 333 46 84 42 0 6 128 0 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8390 4134 12524 6 8 14 0.000714626 0.00193143 0.00111661 0.000714626 0.00193143 0.00111661 10 transversion C A C>A 0.622 1.497 P Pro CCA 0.274 T Thr ACA 0.280 156 11 4 White-tuffed-ear marmoset -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 75.14 0.00 Tolerated 0.3 III.48 good 3.844E-1 0.02272 255 PASS 0.002 0.0009 0.0028 . . 0.0008 0.0006 0.0029 . . . ENSG00000213413:ENST00000317271:exon3:c.C466A:p.P156T . PVRIG:NM_024070:exon3:c.C466A:p.P156T . . 0.53125 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.355 . @ . . . . . 1 0.266 . . 64.0 . . . 0.0019 0.0011 0.0007 0.0019 0.0011 0.0007 . -0.7763 -0.814 -0.776 c . . . . . 1.086e-03 . . . 0.0026 0.0019 0.0029 0 0 0.0027 0.0039 0.0001 0.0031 0.0015 0.0029 0 0 0.0019 0.0045 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.295 0.0006 . . . 0.21 0.5 182 ENSG00000213413 PVRIG PVRIG . . . 1.000 0.747 . 81 0.00124661 64976 78 0.0013003 59986 Uncertain_significance . 0 . . . . . . T 0.314 0.013 . . 37 . 0.247 . . 0.136 . . . 0.181 0.513 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.740 . . 0 0 0 0 0 0 . 0.320 . . 0.296 . . . . . . 4 0.097 . . . . . 0.321 . 0.058 . HET 0.17 rs188001537 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0027624309392265192 0.0 0.0 8.491 0.001732 ENST00000317271 III.44 II.53 . 0.150000 Q6DKI7 . . . 0.001117 . 0.205 . . II.53 0.0021 0.0013 0.0025 0.0043 0 0 0.0011 0.0043 0.0002 0.0018 0.0010 0.0024 0.0033 0 0 0.0006 0.0041 . . 0.465 . 0.731 0.731000 . . 0.150000 . . 1.0E-255 0.150 0.234 . 0.181 0.012 . 0.244 . 0.288 0.731 0.548 0.0028 . . rs188001537 rs188001537 1 1538 10 1/0 0,255,255 +rs114681724 7 99820168 C T - GATS 29954 GATS, stromal antigen 3 opposite strand NM_178831.6 -1 2740 492 NP_849153.3 Q8NAP1 substitution intron GRCh37 99820168 99820168 Chr7(GRCh37):g.99820168C>T *48+1025 *48+1025 NM_178831.6:c.*48+1025G>A p.? p.? 4 4 1025 5' 76.7703 7.23301 0.849089 6.34532 76.7703 7.23301 0.849089 6.34532 0 rs114681724 yes no Frequency/1000G 2 C 0.000000 0 0.006589 0.022700 0.000000 0.000000 0.000000 0.004300 0.005849 0.018569 0.002387 0.003311 0.000617 0.000000 0.000667 0.000000 0.005092 0.018569 181 162 2 1 1 0 10 0 5 30944 8724 838 302 1622 0 14984 3492 982 0.011050 0.012346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 177 158 2 1 1 0 10 0 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 0.528 255 PASS 0.02 0.0041 0.0028 . . 0.023 0.0066 0.0043 . . . . . . . . 0.5092593 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . -0.3225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0066 . . . 0.24 0.35 182 ENSG00000239521 GATS GATS . . . . . . 114 0.00175449 64976 81 0.00135032 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs114681724 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0186 0.0058 0.0024 0.0033 0.0006 0 0.0007 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs114681724 rs114681724 1 1538 10 1/0 0,253,255 +rs114681724 7 99820168 C T - PVRIG 32190 Poliovirus receptor related immunoglobulin domain containing NM_024070.3 1 1569 981 NP_076975.2 Q6DKI7 substitution downstream GRCh37 99820168 99820168 Chr7(GRCh37):g.99820168C>T *1294 *1294 NM_024070.3:c.*1294C>T p.? p.? 6 617012 1618 3' 82.3737 X.34 0.913551 13.8858 82.3737 X.34 0.913551 13.8858 0 rs114681724 yes no Frequency/1000G 2 C 0.000000 0 0.006589 0.022700 0.000000 0.000000 0.000000 0.004300 0.005849 0.018569 0.002387 0.003311 0.000617 0.000000 0.000667 0.000000 0.005092 0.018569 181 162 2 1 1 0 10 0 5 30944 8724 838 302 1622 0 14984 3492 982 0.011050 0.012346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 177 158 2 1 1 0 10 0 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 0.528 255 PASS 0.02 0.0041 0.0028 . . 0.023 0.0066 0.0043 . . . . . . . . 0.5092593 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . -0.3225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0066 . . . 0.24 0.35 182 ENSG00000239521 GATS GATS . . . . . . 114 0.00175449 64976 81 0.00135032 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs114681724 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0186 0.0058 0.0024 0.0033 0.0006 0 0.0007 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs114681724 rs114681724 1 1538 10 1/0 0,253,255 +. 7 99936520 A G - STAG3L5P 48896 Stromal antigen 3-like 5 pseudogene NR_103720.1 1 729 0 substitution intron GRCh37 99936520 99936520 Chr7(GRCh37):g.99936520A>G 345+8 345+8 NR_103720.1:n.345+8A>G p.? p.? 3 3 8 5' 82.8297 9.65432 0.926907 4.28831 82.8297 9.65432 0.935345 4.92352 0.00303446 transition A G A>G 0.047 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.1903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000242294 . . . dist\x3d2590\x3bdist\x3d13266 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 99936520 A G - STAG3L5P-PVRIG2P-PILRB 48898 STAG3L5P-PVRIG2P-PILRB readthrough NR_036569.1 1 3683 0 substitution intron GRCh37 99936520 99936520 Chr7(GRCh37):g.99936520A>G 476+8 476+8 NR_036569.1:n.476+8A>G p.? p.? 3 3 8 5' 82.8297 9.65432 0.926907 4.28831 82.8297 9.65432 0.935345 4.92352 0.00303446 transition A G A>G 0.047 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.1903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000242294 . . . dist\x3d2590\x3bdist\x3d13266 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs532285838 7 99950416 C T - PVRIG2P 48897 Poliovirus receptor related immunoglobulin domain containing 2, pseudogene NR_103728.1 1 1264 0 substitution exon GRCh37 99950416 99950416 Chr7(GRCh37):g.99950416C>T 391 391 NR_103728.1:n.391C>T 2 -122 5' 80.5382 VI.52 0.822613 VIII.22 80.5382 VI.52 0.822613 VIII.22 0 Cryptic Acceptor Weakly Activated 99950427 5.13796 0.021908 77.2432 5.10181 0.072022 81.3451 rs532285838 yes no Frequency/1000G 2 T 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition C T C>T 0.024 -0.602 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.3888889 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 90.0 . . . . . . . . . . -0.4559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5510C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs532285838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs532285838 7 99950416 C T - STAG3L5P-PVRIG2P-PILRB 48898 STAG3L5P-PVRIG2P-PILRB readthrough NR_036569.1 1 3683 0 substitution exon GRCh37 99950416 99950416 Chr7(GRCh37):g.99950416C>T 1281 1281 NR_036569.1:n.1281C>T 9 33 3' 80.943 5.63735 0.659669 2.07998 80.943 5.63735 0.659669 1.37622 0 Cryptic Acceptor Weakly Activated 99950427 5.13796 0.021908 77.2432 5.10181 0.072022 81.3451 rs532285838 yes no Frequency/1000G 2 T 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition C T C>T 0.024 -0.602 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.3888889 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 90.0 . . . . . . . . . . -0.4559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5510C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs532285838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs547186306 7 99950417 A G - PVRIG2P 48897 Poliovirus receptor related immunoglobulin domain containing 2, pseudogene NR_103728.1 1 1264 0 substitution exon GRCh37 99950417 99950417 Chr7(GRCh37):g.99950417A>G 392 392 NR_103728.1:n.392A>G 2 -121 5' 80.5382 VI.52 0.822613 VIII.22 80.5382 VI.52 0.822613 VIII.22 0 Cryptic Acceptor Strongly Activated 99950427 5.13796 0.021908 77.2432 6.17845 0.06279 77.2432 rs547186306 yes no Frequency/1000G 2 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition A G A>G 0.000 -0.279 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.475 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 80.0 . . . . . . . . . . -0.0642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5509A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs547186306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs547186306 7 99950417 A G - STAG3L5P-PVRIG2P-PILRB 48898 STAG3L5P-PVRIG2P-PILRB readthrough NR_036569.1 1 3683 0 substitution exon GRCh37 99950417 99950417 Chr7(GRCh37):g.99950417A>G 1282 1282 NR_036569.1:n.1282A>G 9 34 3' 80.943 5.63735 0.659669 2.07998 80.943 5.63735 0.659669 2.50107 0 Cryptic Acceptor Strongly Activated 99950427 5.13796 0.021908 77.2432 6.17845 0.06279 77.2432 rs547186306 yes no Frequency/1000G 2 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition A G A>G 0.000 -0.279 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.475 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 80.0 . . . . . . . . . . -0.0642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5509A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs547186306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs559354079 7 99950418 T C - PVRIG2P 48897 Poliovirus receptor related immunoglobulin domain containing 2, pseudogene NR_103728.1 1 1264 0 substitution exon GRCh37 99950418 99950418 Chr7(GRCh37):g.99950418T>C 393 393 NR_103728.1:n.393T>C 2 -120 5' 80.5382 VI.52 0.822613 VIII.22 80.5382 VI.52 0.822613 VIII.22 0 rs559354079 yes no Frequency/1000G 2 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition T C T>C 0.000 -0.602 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.4318182 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . -0.2135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5508T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs559354079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs559354079 7 99950418 T C - STAG3L5P-PVRIG2P-PILRB 48898 STAG3L5P-PVRIG2P-PILRB readthrough NR_036569.1 1 3683 0 substitution exon GRCh37 99950418 99950418 Chr7(GRCh37):g.99950418T>C 1283 1283 NR_036569.1:n.1283T>C 9 35 3' 80.943 5.63735 0.659669 2.07998 80.943 5.63735 0.659669 2.20381 0 rs559354079 yes no Frequency/1000G 2 0.000000 0 0.156150 0.294300 0.109400 0.027800 0.176900 0.115300 transition T C T>C 0.000 -0.602 255 PASS . . . . . 0.29 0.16 0.12 0.028 0.18 0.11 . . . . . 0.4318182 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . -0.2135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.1562 . . . . . . . PILRB . . uc022aim.1:c.-5508T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs559354079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs111760099 7 100224941 C A - TFR2 11762 Transferrin receptor 2 NM_003227.3 -1 2888 2406 NP_003218.2 Q9UP52 substitution synonymous exon GRCh37 100224941 100224941 Chr7(GRCh37):g.100224941C>A 1941 1941 NM_003227.3:c.1941G>T p.Gly647= p.Gly647Gly 16 604720 -55 5' 61.552 1.30267 0.108531 4.53399 61.552 1.30267 0.108531 4.42374 0 Cryptic Acceptor Strongly Activated 100224926 4.95098 0.193663 76.0204 VI.53 0.39218 76.0204 Transferrin receptor-like, dimerisation domain rs111760099 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.018200 0.000000 0.000000 0.000000 0.002900 0.001883 0.013887 0.002018 0.000117 0.000000 0.000131 0.000607 0.000055 0.002499 0.013887 335 225 50 1 0 3 43 1 12 177930 16202 24772 8518 11810 22838 70868 18120 4802 0.000022 0.000247 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 331 221 50 1 0 3 43 1 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8063 4107 12170 7 35 42 0.00086741 0.00845002 0.00343924 0.00086741 0.00845002 0.00343924 12 transversion G T G>T 0.850 -0.682 G Gly GGG 0.250 G Gly GGT 0.162 647 255 PASS 0.0041 0.0018 0.01 . . 0.018 0.0052 0.0029 . . . . . . . . 0.43103448 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . . 0.0084 0.0034 0.0009 0.0085 0.0034 0.0009 . I.02 . . . . . . . . 7.400e-04 . . . 0.0185 0.0025 0.0030 0 0 0.0006 0 0.0001 0.0193 0.0022 0 0 0 0.0003 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0052 . . . 0.37 0.44 182 ENSG00000106327 TFR2 TFR2 . . . . . . 79 0.00121583 64976 53 0.000883539 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111760099 . . . . . . . . . . . . . . . . . . . . . . . 0.003439 . . . . . 0.0145 0.0014 0.0020 0.0001 0 6.836e-05 0.0006 0.0021 0.0001 0.0133 0.0042 0.0012 0 0 0 0.0006 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs111760099 rs111760099 1 1538 10 1/0 0,255,255 +rs140422470 7 100245127 G A - ACTL6B 160 Actin-like 6B NM_016188.4 -1 1537 1281 NP_057272.1 O94805 substitution synonymous exon GRCh37 100245127 100245127 Chr7(GRCh37):g.100245127G>A 699 699 NM_016188.4:c.699C>T p.Asn233= p.Asn233Asn 8 612458 30 3' 83.7594 9.16781 0.932835 7.79303 83.7594 9.16781 0.932835 7.42026 0 Actin-like rs140422470 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000553 0.000792 0.001266 0.000104 0.000000 0.000136 0.000606 0.000000 0.001272 0.001266 150 19 43 1 0 4 75 0 8 271124 23990 33970 9588 18808 29404 123808 25268 6288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 150 19 43 1 0 4 75 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4403 12993 10 3 13 0.00116279 0.00068089 0.000999539 0.00116279 0.00068089 0.000999539 70 transition C T C>T 1.000 1.981 N Asn AAC 0.536 N Asn AAT 0.464 233 255 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000077080:ENST00000160382:exon8:c.C699T:p.N233N ACTL6B:uc003uvy.3:exon8:c.C699T:p.N233N ACTL6B:NM_016188:exon8:c.C699T:p.N233N . . 0.5483871 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 93.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N233|ACTL6B|mRNA|CODING|NM_016188|NM_016188.ex.8) 0.0007 0.001 0.0012 0.0007 0.001 0.0012 . I.23 . . . . . . . . 5.369e-04 . . . 0.0005 0.0007 0.0008 0 0 0.0010 0.0015 0.0002 0.0006 0.0005 0.0007 0 0 0.0007 0.0016 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.46 0.44 182 ENSG00000077080 ACTL6B ACTL6B . . . . . . 46 0.000707954 64976 45 0.000750175 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140422470 . . . . . . . . . . . . . . . . . . . . . . . 0.001000 . . . . III.58 0.0009 0.0006 0.0013 0.0001 0 0 0.0006 0.0011 0.0001 0.0007 0.0005 0.0012 0 0 0 0.0005 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs140422470 rs140422470 1 1538 10 1/0 0,255,255 +. 7 100280908 G A - GIGYF1 9126 GRB10 interacting GYF protein 1 NM_022574.5 -1 6531 3108 NP_072096.2 O75420 substitution intron GRCh37 100280908 100280908 Chr7(GRCh37):g.100280908G>A 2193+19 2193+19 NM_022574.5:c.2193+19C>T p.? p.? 18 18 612064 19 5' 72.246 4.46441 0.502075 9.15145 72.246 4.46441 0.502075 VIII.83 0 transition C T C>T 0.000 -3.184 255 PASS . . . . . . . . . . . . . . . . 0.46308726 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.2305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146830 GIGYF1 GIGYF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs748409784 7 100281597 A C - GIGYF1 9126 GRB10 interacting GYF protein 1 NM_022574.5 -1 6531 3108 NP_072096.2 O75420 substitution intron GRCh37 100281597 100281597 Chr7(GRCh37):g.100281597A>C 1868+46 1868+46 NM_022574.5:c.1868+46T>G p.? p.? 15 15 612064 46 5' 84.8523 9.73418 0.929416 13.0241 84.8523 9.73418 0.929416 13.4016 0 transversion T G T>G 0.000 -0.037 176 PASS . . . . . . . . . . . . . . . . 0.10638298 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.1064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146830 GIGYF1 GIGYF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 100282569 A AGGATGG - GIGYF1 9126 GRB10 interacting GYF protein 1 NM_022574.5 -1 6531 3108 NP_072096.2 O75420 duplication intron GRCh37 100282569 100282570 Chr7(GRCh37):g.100282570_100282575dup 1291-58 1291-53 NM_022574.5:c.1291-58_1291-53dup p.? p.? 12 11 612064 -52 3' 83.0825 5.59863 0.572621 6.46509 83.0825 5.59863 0.572621 6.41205 0 rs571598936 yes no Frequency/1000G 2 0.001198 GGATGG 6 0.001198 0.003800 0.000000 0.000000 0.001000 0.000000 0.001108 0.004287 0.002040 0.002469 0.000000 0.000286 0.000677 0.000043 0.001882 0.004287 269 91 62 23 0 8 73 1 11 242786 21228 30398 9314 17032 28010 107834 23126 5844 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 269 91 62 23 0 8 73 1 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8221 4212 12433 6 23 29 0.000729306 0.00543093 0.00232707 0.000729306 0.00543093 0.00232707 9 CCATCC 255 Pass . . . . . 0.0038 0.0012 . . 0.001 . . . . . . 0.30357143 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56 . . INTRON(MODIFIER||||GIGYF1|mRNA|CODING|NM_022574|) . . . 0.0054 0.0023 0.0007 . . . . . . . . . . . . . . 0.0031 0.0008 0.0006 0 0 0.0009 0.0023 0.0002 0.0028 0.0006 0.0006 0 0 0.0006 0.0023 0.0002 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000146830 GIGYF1 GIGYF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs571598936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0010 0.0020 0.0026 0 5.094e-05 0.0007 0.0018 0.0003 0.0050 0.0018 0.0024 0 0 0 0.0006 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,52 +rs572928987 7 100283157 G A - GIGYF1 9126 GRB10 interacting GYF protein 1 NM_022574.5 -1 6531 3108 NP_072096.2 O75420 substitution intron GRCh37 100283157 100283157 Chr7(GRCh37):g.100283157G>A 1055-53 1055-53 NM_022574.5:c.1055-53C>T p.? p.? 10 9 612064 -53 3' 84.3427 12.0787 0.986302 X.43 84.3427 12.0787 0.986302 11.1542 0 Cryptic Acceptor Strongly Activated 100283147 6.61618 0.171216 73.6194 7.25206 0.335562 76.9021 rs572928987 yes no Frequency 1 G 0.000000 0 0.000259 0.000115 0.001193 0.000000 0.000000 0.000000 0.000334 0.000000 0.001018 0.001193 8 1 1 0 0 0 5 0 1 30912 8706 838 302 1622 0 14968 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.46153846 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||GIGYF1|mRNA|CODING|NM_022574|) . . . . . . . 0.0572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000146830 GIGYF1 GIGYF1 . . . . . . 42 0.000646393 64976 42 0.000700163 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs572928987 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0012 0 0 0 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs11976235 7 100320381 C T - EPO 3415 Erythropoietin NM_000799.3 1 1330 582 NP_000790.2 P01588 substitution missense exon GRCh37 100320381 100320381 Chr7(GRCh37):g.100320381C>T 341 341 NM_000799.3:c.341C>T p.Pro114Leu p.Pro114Leu 4 133170 -86 5' 95.6376 X.36 0.995505 12.391 95.6376 X.36 0.995505 12.391 0 Cryptic Acceptor Strongly Activated 100320380 3.69044 0.428235 80.2567 4.32456 0.705289 80.2567 Erythropoietin/thrombopoeitin Erythropoietin Four-helical cytokine-like, core rs11976235 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.001000 0.008600 0.003369 0.000708 0.003603 0.011045 0.000053 0.001040 0.004949 0.000233 0.002321 0.011045 933 17 124 112 1 32 626 6 15 276916 24004 34412 10140 18862 30780 126498 25758 6462 0.000036 0.000083 0.000058 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 5 1 1 0 0 0 3 0 0 923 15 122 112 1 32 620 6 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8539 4402 12941 61 4 65 0.00709302 0.000907853 0.00499769 0.00709302 0.000907853 0.00499769 36 transition C T C>T 0.055 0.286 P Pro CCG 0.115 L Leu CTG 0.404 114 12 9 Cat -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0.0027 0.01 . 0.0013 . 0.0018 0.0086 . 0.001 0.002 ENSG00000130427:ENST00000252723:exon4:c.C341T:p.P114L . EPO:NM_000799:exon4:c.C341T:p.P114L . . 0.43661973 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.176 . @ . . . . . 1 0.113 . . 71.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P114L|EPO|mRNA|CODING|NM_000799|NM_000799.ex.4) 0.0009 0.005 0.0071 0.0009 0.005 0.0071 . -0.8601 -0.917 -0.860 c . . . . . 3.678e-03 . . . 0.0010 0.0041 0.0033 0.0002 0 0.0072 0.0028 0.0010 0.0007 0.0035 0.0033 0.0001 0.0003 0.0056 0.0029 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.433 . . exonic exonic exonic . . 0.217 0.0018 . . . 0.16 0.45 182 ENSG00000130427 EPO EPO . . . 1.000 0.480 . 238 0.00366289 64976 229 0.00381756 59986 Benign . 0 . 0.087 . . . . T 0.161 0.006 . . 37 . 0.255 . . 0.292 . . . 0.440 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.521 . . 0 0 0 0 0 0 . 0.196 . . 0.162 . . . . . . 0 0.363 . . . . . 0.081 . 0.109 . HET 0.08 rs11976235 . . . . . . . 0.0027472527472527475 0.0 0.013812154696132596 0.0 0.0013192612137203166 III.83 0.001605 ENST00000252723 4.IV I.46 . 0.080000 . . . . 0.004998 . 0.107 . . . 0.0007 0.0035 0.0035 0.0112 5.8e-05 0.0003 0.0051 0.0024 0.0010 0.0007 0.0022 0.0060 0.0066 0 0 0.0035 0.0020 . . 0.340 . 0.190 0.190000 . . 0.080000 . . 1.0E-255 0.004 0.165 . 0.284 0.370 . 0.094 . 0.437 0.190 0.871 0.01 rs11976235 rs11976235 rs11976235 rs11976235 1 1538 10 1/0 0,255,255 +rs377399677 7 100484605 C T - SRRT 24101 Serrate RNA effector molecule homolog (Arabidopsis) NM_015908.5 1 3013 2631 NP_056992.4 Q9BXP5 substitution intron GRCh37 100484605 100484605 Chr7(GRCh37):g.100484605C>T 1821+16 1821+16 NM_015908.5:c.1821+16C>T p.? p.? 14 14 614469 16 5' 66.5208 3.40953 0.226073 6.22194 66.5208 3.40953 0.226073 5.82578 0 rs377399677 yes no Frequency 1 C 0.000000 0 0.000069 0.000458 0.000088 0.000000 0.000000 0.000000 0.000024 0.000000 0.000312 0.000458 19 11 3 0 0 0 3 0 2 274418 24016 34224 9808 18838 30432 125164 25534 6402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 11 3 0 0 0 3 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4403 12999 0 3 3 0 0.00068089 0.000230734 0 0.00068089 0.000230734 79 transition C T C>T 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.506383 . . @ 119 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 235.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . 0.8302 . . . . . . . . 7.104e-05 . . . 0.0006 0.0001 0.0002 0 0 2.403e-05 0 0 0.0004 5.711e-05 8.921e-05 0 0 1.858e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.24 182 ENSG00000087087 SRRT SRRT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs377399677 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0.0006 6.572e-05 8.986e-05 0 0 0 1.815e-05 0.0004 0 0.0002 9.691e-05 0 0 0 0 6.67e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 . . rs377399677 rs377399677 1 1538 10 1/0 0,223,238 +rs377399677 7 100484605 C T - UFSP1 33821 UFM1-specific peptidase 1 (non-functional) NM_001015072.3 -1 996 429 NP_001015072.2 Q6NVU6 substitution downstream GRCh37 100484605 100484605 Chr7(GRCh37):g.100484605C>T *1859 *1859 NM_001015072.3:c.*1859G>A p.? p.? 1 611481 rs377399677 yes no Frequency 1 C 0.000000 0 0.000069 0.000458 0.000088 0.000000 0.000000 0.000000 0.000024 0.000000 0.000312 0.000458 19 11 3 0 0 0 3 0 2 274418 24016 34224 9808 18838 30432 125164 25534 6402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 11 3 0 0 0 3 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4403 12999 0 3 3 0 0.00068089 0.000230734 0 0.00068089 0.000230734 79 transition G A G>A 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.506383 . . @ 119 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 235.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . 0.8302 . . . . . . . . 7.104e-05 . . . 0.0006 0.0001 0.0002 0 0 2.403e-05 0 0 0.0004 5.711e-05 8.921e-05 0 0 1.858e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.24 182 ENSG00000087087 SRRT SRRT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs377399677 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0.0006 6.572e-05 8.986e-05 0 0 0 1.815e-05 0.0004 0 0.0002 9.691e-05 0 0 0 0 6.67e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 . . rs377399677 rs377399677 1 1538 10 1/0 0,223,238 +rs141166290 7 100486464 T G - ACHE 108 Acetylcholinesterase (Cartwright blood group) NM_001302621.1 -1 2289 1854 NP_001289550.1 substitution downstream GRCh37 100486464 100486464 Chr7(GRCh37):g.100486464T>G *2115 *2115 NM_001302621.1:c.*2115A>C p.? p.? 5 100740 2246 3' 77.5646 X.78 0.914599 13.069 77.5646 X.78 0.914599 13.069 0 rs141166290 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000000 0.003100 0.000000 0.000000 0.002900 0.000911 0.000459 0.001861 0.000110 0.000000 0.001527 0.000895 0.000000 0.002575 0.001861 245 11 62 1 0 45 110 0 16 268930 23944 33312 9114 18776 29464 122840 25266 6214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245 11 62 1 0 45 110 0 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4406 12990 16 0 16 0.00186047 0 0.0012302 0.00186047 0 0.0012302 167 transversion A C A>C 0.984 1.013 255 PASS . 0.0009 0.01 . . . 0.001 0.0029 . . 0.0031 ENSG00000176125:ENST00000388761:exon1:c.A429C:p.X143C UFSP1:uc003uxc.4:exon1:c.A429C:p.X143C UFSP1:NM_001015072:exon1:c.A429C:p.X143C . . 0.5169492 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.300 . @ . . . . . 0 0.107 . . 118.0 . . . . 0.0012 0.0019 . 0.0012 0.0019 . 0.5092 0.231 0.509 c . . . . . 8.999e-04 . . . 0.0003 0.0012 0.0013 0 0 0.0013 0.0031 0.0025 0.0003 0.0009 0.0012 0 0 0.0009 0.0032 0.0025 stoploss stoploss stoploss . . . exonic exonic exonic . . 0.362 0.0010 . . . 0.27 0.4 182 ENSG00000176125 UFSP1 UFSP1 . . . 1.000 0.747 . 49 0.000754125 64976 44 0.000733504 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 9 . . . . . . 0.251 . . . HET 0.14 . . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 VII.69 0.0 ENST00000388761 IV.47 III.25 . . . . . . 0.001230 . 0.479 . . III.25 0.0005 0.0009 0.0019 0.0001 0 0 0.0009 0.0027 0.0015 0.0005 0.0007 0.0012 0 0 0 0.0010 0.0020 . . 0.020 . 0.622 0.622000 . . . . . 1.0E-255 0.255 0.247 . 0.114 0.001 . 0.279 . 0.162 0.622 0.048 0.01 . . rs141166290 rs141166290 1 1538 10 1/0 0,253,255 +rs141166290 7 100486464 T G - SRRT 24101 Serrate RNA effector molecule homolog (Arabidopsis) NM_015908.5 1 3013 2631 NP_056992.4 Q9BXP5 substitution downstream GRCh37 100486464 100486464 Chr7(GRCh37):g.100486464T>G *294 *294 NM_015908.5:c.*294T>G p.? p.? 20 614469 370 3' 85.7087 X.08 0.980002 6.45388 85.7087 X.08 0.980002 6.45388 0 rs141166290 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000000 0.003100 0.000000 0.000000 0.002900 0.000911 0.000459 0.001861 0.000110 0.000000 0.001527 0.000895 0.000000 0.002575 0.001861 245 11 62 1 0 45 110 0 16 268930 23944 33312 9114 18776 29464 122840 25266 6214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245 11 62 1 0 45 110 0 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4406 12990 16 0 16 0.00186047 0 0.0012302 0.00186047 0 0.0012302 167 transversion T G T>G 0.984 1.013 255 PASS . 0.0009 0.01 . . . 0.001 0.0029 . . 0.0031 ENSG00000176125:ENST00000388761:exon1:c.A429C:p.X143C UFSP1:uc003uxc.4:exon1:c.A429C:p.X143C UFSP1:NM_001015072:exon1:c.A429C:p.X143C . . 0.5169492 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.300 . @ . . . . . 0 0.107 . . 118.0 . . . . 0.0012 0.0019 . 0.0012 0.0019 . 0.5092 0.231 0.509 c . . . . . 8.999e-04 . . . 0.0003 0.0012 0.0013 0 0 0.0013 0.0031 0.0025 0.0003 0.0009 0.0012 0 0 0.0009 0.0032 0.0025 stoploss stoploss stoploss . . . exonic exonic exonic . . 0.362 0.0010 . . . 0.27 0.4 182 ENSG00000176125 UFSP1 UFSP1 . . . 1.000 0.747 . 49 0.000754125 64976 44 0.000733504 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 9 . . . . . . 0.251 . . . HET 0.14 . . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 VII.69 0.0 ENST00000388761 IV.47 III.25 . . . . . . 0.001230 . 0.479 . . III.25 0.0005 0.0009 0.0019 0.0001 0 0 0.0009 0.0027 0.0015 0.0005 0.0007 0.0012 0 0 0 0.0010 0.0020 . . 0.020 . 0.622 0.622000 . . . . . 1.0E-255 0.255 0.247 . 0.114 0.001 . 0.279 . 0.162 0.622 0.048 0.01 . . rs141166290 rs141166290 1 1538 10 1/0 0,253,255 +rs141166290 7 100486464 T G - UFSP1 33821 UFM1-specific peptidase 1 (non-functional) NM_001015072.3 -1 996 429 NP_001015072.2 Q6NVU6 substitution stop loss exon GRCh37 100486464 100486464 Chr7(GRCh37):g.100486464T>G 429 429 NM_001015072.3:c.429A>C p.*143Cysext*? p.*143Cysext*? 1 611481 rs141166290 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000000 0.003100 0.000000 0.000000 0.002900 0.000911 0.000459 0.001861 0.000110 0.000000 0.001527 0.000895 0.000000 0.002575 0.001861 245 11 62 1 0 45 110 0 16 268930 23944 33312 9114 18776 29464 122840 25266 6214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245 11 62 1 0 45 110 0 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4406 12990 16 0 16 0.00186047 0 0.0012302 0.00186047 0 0.0012302 167 transversion A C A>C 0.984 1.013 * * TGA 0.489 C Cys TGC 0.552 143 255 PASS . 0.0009 0.01 . . . 0.001 0.0029 . . 0.0031 ENSG00000176125:ENST00000388761:exon1:c.A429C:p.X143C UFSP1:uc003uxc.4:exon1:c.A429C:p.X143C UFSP1:NM_001015072:exon1:c.A429C:p.X143C . . 0.5169492 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.300 . @ . . . . . 0 0.107 . . 118.0 . . . . 0.0012 0.0019 . 0.0012 0.0019 . 0.5092 0.231 0.509 c . . . . . 8.999e-04 . . . 0.0003 0.0012 0.0013 0 0 0.0013 0.0031 0.0025 0.0003 0.0009 0.0012 0 0 0.0009 0.0032 0.0025 stoploss stoploss stoploss . . . exonic exonic exonic . . 0.362 0.0010 . . . 0.27 0.4 182 ENSG00000176125 UFSP1 UFSP1 . . . 1.000 0.747 . 49 0.000754125 64976 44 0.000733504 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 9 . . . . . . 0.251 . . . HET 0.14 . . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 VII.69 0.0 ENST00000388761 IV.47 III.25 . . . . . . 0.001230 . 0.479 . . III.25 0.0005 0.0009 0.0019 0.0001 0 0 0.0009 0.0027 0.0015 0.0005 0.0007 0.0012 0 0 0 0.0010 0.0020 . . 0.020 . 0.622 0.622000 . . . . . 1.0E-255 0.255 0.247 . 0.114 0.001 . 0.279 . 0.162 0.622 0.048 0.01 . . rs141166290 rs141166290 1 1538 10 1/0 0,253,255 +. 7 100550031 A ATCC - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 insertion in-frame exon GRCh37 100550031 100550032 Chr7(GRCh37):g.100550031_100550032insTCC 612 613 XM_001725354.6:c.612_613insTCC p.Thr204_Pro205insSer p.Thr204_Pro205insSer 2 158371 551 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 Cryptic Acceptor Strongly Activated 100550048 4.06116 0.262539 80.0287 5.37544 0.368009 80.0287 TCC 255 Pass . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.612_613insTCC:p.T204delinsTS . MUC3A:NM_005960:exon2:c.612_613insTCC:p.T204delinsTS . . 0.1724138 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 232 . . CODON_INSERTION(MODERATE||-/TCC|-205S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion . nonframeshift_insertion . . . exonic upstream exonic . . . . . . . . . . ENSG00000228273 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,76 +. 7 100550032 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550032 100550032 Chr7(GRCh37):g.100550032C>T 613 613 XM_001725354.6:c.613C>T p.Pro205Ser p.Pro205Ser 2 158371 552 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs971928735 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.161 0.932 P Pro CCC 0.328 S Ser TCC 0.220 205 10 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Not scored 0.0 0.0 214 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.C613T:p.P205S . MUC3A:NM_005960:exon2:c.C613T:p.P205S . . 0.19480519 . . . 45 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.159 . . . . . . . 1 0.126 . . 231.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P205S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -1.0386 -1.143 -1.039 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV . . . exonic upstream exonic . . 0.155 . . . . . . . ENSG00000228273 . MUC3A . . . 0.999 0.382 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.151 . . 0.381 . . . 0.094 . . . . . 0 1 0 0 0 0 0 1 0 0 0 0.574 . . 0 0 0 0 . 0 . . . . . . . . . . . 0 0.912 . . . . . 0.245 . 0.175 . HET 0.26 . . . . . . . . . . . . . 7.1273 . ENST00000379458 I.44 0.402 . 0.920000 . . . . . . 0.119 . . . . . . . . . . . . . . . . . . . . . . 0.348 . 0.110 0.110000 . . 0.920000 . . 1.0E-214 0.000 0.063 . 0.062 0.007 . 0.006 . 0.130 0.110 0.545 . . . . . 1 1538 10 1/0 0,199,255 +rs796078842 7 100550188 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550188 100550188 Chr7(GRCh37):g.100550188T>C 769 769 XM_001725354.6:c.769T>C p.Ser257Pro p.Ser257Pro 2 158371 708 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796078842 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.651 S Ser TCC 0.220 P Pro CCC 0.328 257 10 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Not scored 0.0 0.0 116 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.T769C:p.S257P . MUC3A:NM_005960:exon2:c.T769C:p.S257P . . 0.107913665 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.020 . . 139.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S257P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -1.5960 -1.789 -1.596 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV . . . exonic upstream exonic . . 0.033 @ . . . . . . ENSG00000228273 . MUC3A . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.107 . . 0.189 . . . 0.112 . . . . . 0 1 0 0 0 0 0 1 0 0 0 0.040 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.214 . . . . . 0.005 . 0.036 . LowAF 0.37 . . . . . . . . . . . . . 0.4736 . ENST00000379458 II.21 -4.42 . 0.310000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.216 . -1.646 -1.646000 . . 0.310000 . . 1.0E-116 0.000 0.063 . 0.016 0.001 . 0.005 . 0.048 -1.646 -0.058 . . . . . 1 1538 10 1/0 0,216,255 +rs75475749 7 100550206 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550206 100550206 Chr7(GRCh37):g.100550206A>G 787 787 XM_001725354.6:c.787A>G p.Ile263Val p.Ile263Val 2 158371 726 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 New Acceptor Site 100550207 5.93402 0.566269 80.535 rs75475749 yes no Frequency 1 A 0.000000 0 0.000017 0.000072 0.000000 0.000000 0.000000 0.000033 0.000018 0.000000 0.000000 0.000072 4 1 0 0 0 1 2 0 0 234018 13982 33446 9920 16936 30514 111238 12552 5430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.086 I Ile ATC 0.481 V Val GTC 0.240 263 10 1 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.A787G:p.I263V . MUC3A:NM_005960:exon2:c.A787G:p.I263V . . 0.10559006 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.060 . . 161.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I263V|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -1.3260 -1.520 -1.326 c . . . . . 1.658e-05 . . . 0 2.43e-05 0 0 0 2.704e-05 0 6.17e-05 0 9.88e-06 0 0 0 0 0 6.202e-05 nonsynonymous_SNV . nonsynonymous_SNV . . . exonic upstream exonic . . 0.036 @ . . . 0.39 0.2 182 ENSG00000228273 . MUC3A . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.130 . . 0.324 . . . 0.024 . . . . . 0 0 0 0 0 0 0 1 0 0 0 0.125 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.260 . . . . . 0.007 . 0.141 . LowAF 0.96 rs75475749 . . . . . . . . . . . . 0.5762 . ENST00000379458 2.I -4.19 . 0.940000 . . . . . . 0.028 . . . 0 1.321e-05 0 0 0 0 1.905e-05 0 3.277e-05 0.0075 0.0001 0 0 0 0 0 0 . . 0.409 . -1.191 -1.191000 . . 0.940000 . . 1.0E-176 0.000 0.063 . 0.016 0.004 . 0.025 . 0.075 -1.191 0.074 . . . rs75475749 rs75475749 1 1538 10 1/0 0,206,255 +rs76954633 7 100550212 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550212 100550212 Chr7(GRCh37):g.100550212T>C 793 793 XM_001725354.6:c.793T>C p.Ser265Pro p.Ser265Pro 2 158371 732 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs76954633 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 -0.924 S Ser TCC 0.220 P Pro CCC 0.328 265 10 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Not scored 0.0 0.0 192 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.T793C:p.S265P . MUC3A:NM_005960:exon2:c.T793C:p.S265P . . 0.1402439 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.071 . . 164.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S265P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -1.0898 -1.275 -1.090 c . . . . . 3.240e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV . . . exonic upstream exonic . . 0.048 @ . . . 0.4 0.24 182 ENSG00000228273 . MUC3A . . . 1.000 0.418 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.112 . . 0.219 . . . 0.112 . . . . . 0 0 0 0 0 0 0 1 0 0 0 0.092 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.259 . . . . . 0.008 . 0.058 . LowAF 0.21 rs76954633 . . . . . . . . . . . . 0.6931 . ENST00000379458 2.I -3.23 . 0.290000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.409 . -0.874 -0.874000 . . 0.290000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.000 . 0.013 . 0.339 -0.874 -1.234 . . . rs76954633 rs76954633 1 1538 10 1/0 0,208,255 +rs77045782 7 100550217 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550217 100550217 Chr7(GRCh37):g.100550217A>C 798 798 XM_001725354.6:c.798A>C p.Thr266= p.Thr266Thr 2 158371 737 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 Cryptic Acceptor Strongly Activated 100550225 1.66914 0.004268 71.8983 3.0042 0.078858 75.2681 rs77045782 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6862 128 66 258 8 0 6252 2 148 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1181 Genomes transversion A C A>C 0.000 -1.005 T Thr ACA 0.280 T Thr ACC 0.361 266 164 PASS . . . . . . . . . . . ENSG00000228273:ENST00000379458:exon2:c.A798C:p.T266T . MUC3A:NM_005960:exon2:c.A798C:p.T266T . . 0.11042945 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 163.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acC|T266|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3242 . . . . . . . . 8.295e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV . synonymous_SNV . . . exonic upstream exonic . . . @ . . . 0.4 0.18 182 ENSG00000228273 . MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77045782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-164 . . . . . . . . . . . . . . rs77045782 rs77045782 1 1538 10 1/0 0,207,255 +rs796345426 7 100550582 T G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550582 100550582 Chr7(GRCh37):g.100550582T>G 1163 1163 XM_001725354.6:c.1163T>G p.Val388Gly p.Val388Gly 2 158371 1102 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796345426 no no 0 T 0.000000 0 0.004475 0.040000 0.000000 0.000000 0.062500 0.000000 0.002641 0.166667 0.007042 0.166667 30 6 0 0 1 0 16 6 1 6704 150 60 242 16 0 6058 36 142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 6 0 0 1 0 16 6 1 0 0 0 0 0 0 0 0 0 RF 815 Genomes transversion T G T>G 0.000 -0.440 V Val GTA 0.114 G Gly GGA 0.246 388 10 1 -3 -3 -6 0 0.74 5.IX 9 84 3 109 C0 353.86 0.00 Not scored 0.0 0.0 194 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1163G:p.V388G . . 0.14444445 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.053 . . 180.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTa/gGa|V388G|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.2673 -0.185 -0.267 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.053 @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.085 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.021 . . . . . . . . . . . . 0.04 0.0045 0 0 0.0625 0.1667 0.0026 0.0070 . . 0.023 . . . . . . . . 1.0E-194 0.000 0.063 . 0.043 0.004 . 0.032 . 0.322 . 0.486 . . . . . 1 1538 10 1/0 0,205,255 +rs796728880 7 100550585 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550585 100550585 Chr7(GRCh37):g.100550585C>A 1166 1166 XM_001725354.6:c.1166C>A p.Thr389Asn p.Thr389Asn 2 158371 1105 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796728880 no no 0 C 0.000000 0 0.002901 0.005401 0.000000 0.000000 0.005000 0.000000 0.001888 0.018750 0.000000 0.018750 27 7 0 0 1 0 13 6 0 9306 1296 144 242 200 0 6884 320 220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 7 0 0 1 0 13 6 0 0 0 0 0 0 0 0 0 0 RF 512 Genomes transversion C A C>A 0.000 0.286 T Thr ACC 0.361 N Asn AAC 0.536 389 10 1 0 0 0 0.71 I.33 8.VI 11.VI 61 56 65 C0 353.86 0.00 Not scored 0.0 0.0 205 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1166A:p.T389N . . 0.14754099 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.058 . . 183.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T389N|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3546 -0.188 -0.355 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.118 @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.324 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.079 . . . . . . . . . . . . 0.0054 0.0029 0 0 0.005 0.0187 0.0019 0 . . 0.023 . . . . . . . . 1.0E-205 0.000 0.063 . 0.016 0.003 . 0.238 . 0.011 . -0.786 . . . . . 1 1538 10 1/0 0,221,255 +rs796126882 7 100550635 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550635 100550635 Chr7(GRCh37):g.100550635A>G 1216 1216 XM_001725354.6:c.1216A>G p.Thr406Ala p.Thr406Ala 2 158371 1155 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 New Acceptor Site 100550636 3.45917 0.438352 83.9577 rs796126882 no no 0 A 0.000000 0 0.000137 0.000000 0.000000 0.000000 0.009091 0.000000 0.000000 0.000000 0.000000 0.009091 1 0 0 0 1 0 0 0 0 7324 580 144 214 110 0 5582 502 192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 662 Genomes transition A G A>G 0.000 -2.135 T Thr ACC 0.361 A Ala GCC 0.403 406 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 207 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1216G:p.T406A . . 0.17605634 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.014 . . 142.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T406A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.6489 -0.196 -0.649 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.053 @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.139 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.028 . . . . . . . . . . . . 0 0.0001 0 0 0.0091 0 0 0 . . 0.025 . . . . . . . . 1.0E-207 0.000 0.063 . 0.016 0.000 . 0.009 . 0.003 . -0.568 . . . . . 1 1538 10 1/0 0,218,255 +rs73163754 7 100550641 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550641 100550641 Chr7(GRCh37):g.100550641T>C 1222 1222 XM_001725354.6:c.1222T>C p.Tyr408His p.Tyr408His 2 158371 1161 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs73163754 yes no Frequency/1000G 2 T 0.000000 0 0.002831 0.004786 0.002976 0.000000 0.008178 0.000000 0.001374 0.002825 0.000000 0.008178 43 21 1 0 7 0 11 3 0 15188 4388 336 144 856 0 8008 1062 394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 21 1 0 7 0 11 3 0 0 0 0 0 0 0 0 0 0 RF 226 Genomes transition T C T>C 0.000 -1.570 Y Tyr TAC 0.562 H His CAC 0.587 408 10 1 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Not scored 0.0 0.0 229 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1222C:p.Y408H . . 0.23880596 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.065 . @ . . . . . 1 0.018 . . 134.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y408H|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.6567 -0.200 -0.657 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.053 @ . . . 0.56 0.49 182 ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.019 . . . HET . rs73163754 . . . . . . . . . . . . . . . . . . . . . . . . . 0.016 . . . . . . . . . . . . 0.0048 0.0028 0.0030 0 0.0082 0.0028 0.0014 0 . . 0.025 . . . . . . . . 1.0E-229 0.000 0.063 . 0.016 0.001 . 0.065 . 0.009 . -0.679 . . rs73163754 rs73163754 rs73163754 1 1538 10 1/0 0,227,255 +rs571754040 7 100550675 T A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550675 100550675 Chr7(GRCh37):g.100550675T>A 1256 1256 XM_001725354.6:c.1256T>A p.Phe419Tyr p.Phe419Tyr 2 158371 1195 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs571754040 yes no Frequency/1000G 2 T 0.389177 A 1949 0.389177 0.339600 0.363000 0.458300 0.417500 0.379000 transversion T A T>A 0.016 1.255 F Phe TTC 0.546 Y Tyr TAC 0.562 419 10 1 3 3 4 0 0.2 5.II 6.II 132 136 22 C0 353.86 0.00 Not scored 0.0 0.0 193 PASS . . . . . 0.34 0.39 0.38 0.46 0.42 0.36 . . MUC3A:NM_005960:exon2:c.T1256A:p.F419Y . . 0.14285715 . . @ 7 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.165 . @ . . . . . 1 0.059 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tAc|F419Y|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0405 -0.024 -0.041 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.221 0.3892 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.500 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.066 . . . LowAF . rs571754040 . . . . . . . . . . . . . . . . . . . . . . . . . 0.094 . . . . . . . . . . . . . . . . . . . . . . 0.032 . . . . . . . . 1.0E-193 0.000 0.063 . 0.016 0.001 . 0.060 . 0.110 . 0.899 . . . . . 1 1538 10 1/0 0,255,255 +rs547793267 7 100550680 T A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550680 100550680 Chr7(GRCh37):g.100550680T>A 1261 1261 XM_001725354.6:c.1261T>A p.Ser421Thr p.Ser421Thr 2 158371 1200 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs547793267 yes no Frequency/1000G 2 T 0.000000 0 0.389177 0.339600 0.363000 0.458300 0.417500 0.379000 transversion T A T>A 0.000 -0.602 S Ser TCT 0.185 T Thr ACT 0.243 421 10 1 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . 0.34 0.39 0.38 0.46 0.42 0.36 . . MUC3A:NM_005960:exon2:c.T1261A:p.S421T . . 0.11320755 . . @ 6 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.141 . @ . . . . . 1 0.048 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S421T|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.2687 -0.045 -0.269 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.051 0.3892 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.500 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.051 . . . LowAF . rs547793267 . . . . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.032 . . . . . . . . 1.0E-179 0.000 0.063 . 0.016 0.001 . 0.014 . 0.033 . -0.953 . . . . . 1 1538 10 1/0 0,254,255 +rs565902709 7 100550682 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550682 100550682 Chr7(GRCh37):g.100550682T>C 1263 1263 XM_001725354.6:c.1263T>C p.Ser421= p.Ser421Ser 2 158371 1202 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs565902709 yes no Frequency/1000G 2 T 0.000000 0 0.389177 0.339600 0.363000 0.458300 0.417500 0.379000 0.000149 0.000000 0.000000 0.000000 0.000000 0.000000 0.000381 0.000000 0.000000 0.000381 2 0 0 0 0 0 2 0 0 13378 4690 396 40 646 0 5252 1882 472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 483 Genomes transition T C T>C 0.000 0.044 S Ser TCT 0.185 S Ser TCC 0.220 421 187 PASS . . . . . 0.34 0.39 0.38 0.46 0.42 0.36 . . MUC3A:NM_005960:exon2:c.T1263C:p.S421S . . 0.12962963 . . @ 7 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S421|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream upstream exonic . . . 0.3892 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs565902709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs555730126 7 100550689 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550689 100550689 Chr7(GRCh37):g.100550689A>G 1270 1270 XM_001725354.6:c.1270A>G p.Thr424Ala p.Thr424Ala 2 158371 1209 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs555730126 yes no Frequency/1000G 2 A 0.000000 0 0.001406 0.000000 0.000000 0.000000 0.500000 0.000000 0.000828 0.000000 0.000000 0.500000 2 0 0 0 1 0 1 0 0 1422 20 44 74 2 0 1208 0 74 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 4665 Genomes transition A G A>G 0.000 -1.489 T Thr ACC 0.361 A Ala GCC 0.403 424 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 230 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1270G:p.T424A . . 0.24561404 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.090 . @ . . . . . 1 0.044 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T424A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4315 -0.063 -0.432 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.037 0.0006 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.094 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.047 . . . . . . . . . . . . 0 0.0014 0 0 0.5 . 0.0008 0 . . 0.024 . . . . . . . . 1.0E-230 0.000 0.063 . 0.016 0.001 . 0.018 . 0.000 . -0.015 . . . . . 1 1538 10 1/0 0,255,255 +. 7 100550691 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550691 100550691 Chr7(GRCh37):g.100550691C>A 1272 1272 XM_001725354.6:c.1272C>A p.Thr424= p.Thr424Thr 2 158371 1211 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs998384837 no no 0 C 0.000000 0 0.001414 0.000000 0.000000 0.000000 0.500000 0.000000 0.000836 0.000000 0.000000 0.500000 2 0 0 0 1 0 1 0 0 1414 18 44 78 2 0 1196 2 74 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 5340 Genomes transversion C A C>A 0.000 0.770 T Thr ACC 0.361 T Thr ACA 0.280 424 179 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1272A:p.T424T . . 0.11111111 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acA|T424|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream upstream exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0014 0 0 0.5 0 0.0008 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 100550693 C G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550693 100550693 Chr7(GRCh37):g.100550693C>G 1274 1274 XM_001725354.6:c.1274C>G p.Thr425Ser p.Thr425Ser 2 158371 1213 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 New Acceptor Site 100550694 5.80466 0.02344 78.2356 rs1029444976 no no 0 C 0.000000 0 transversion C G C>G 0.000 1.416 T Thr ACT 0.243 S Ser AGT 0.149 425 10 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1274G:p.T425S . . 0.10526316 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.126 . @ . . . . . 1 0.010 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aGt|T425S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.0594 0.012 0.059 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.256 @ . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.413 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.094 . . 2.III . . . . . . . . . . . . . . . . . . . 0.024 . . . . . . . . 1.0E-176 0.004 0.165 . 0.016 0.007 . 0.294 . 0.025 . 0.791 . . . . . 1 1538 10 1/0 0,251,255 +rs141925032 7 100550704 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550704 100550704 Chr7(GRCh37):g.100550704C>A 1285 1285 XM_001725354.6:c.1285C>A p.Pro429Thr p.Pro429Thr 2 158371 1224 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs141925032 no no 0 0.000000 0 transversion C A C>A 0.000 -1.086 P Pro CCC 0.328 T Thr ACC 0.361 429 10 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Not scored 0.0 0.0 202 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1285A:p.P429T . . 0.16666667 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.024 . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P429T|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.6889 -0.084 -0.689 n . . . . . . . . . . . . . . . . . 0 0.0556 0 . 0.25 0 . 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.077 @ . . . 0.49 0.38 182 ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.139 . . . HET . rs141925032 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . 1.0E-202 0.000 0.063 . 0.016 0.000 . 0.013 . 0.000 . -3.293 . . . rs141925032 rs141925032 1 1538 10 1/0 0,255,255 +rs76608602 7 100550744 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550744 100550744 Chr7(GRCh37):g.100550744A>C 1325 1325 XM_001725354.6:c.1325A>C p.Asn442Thr p.Asn442Thr 2 158371 1264 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs76608602 yes no Frequency 1 0.000000 0 transversion A C A>C 0.000 -0.279 N Asn AAT 0.464 T Thr ACT 0.243 442 10 1 0 0 0 I.33 0.71 11.VI 8.VI 56 61 65 C0 353.86 0.00 Not scored 0.0 0.0 153 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1325C:p.N442T . . 0.37777779 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.107 . @ . . . . . 1 0.011 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N442T|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4499 -0.057 -0.450 n . . . . . 2.676e-04 . . . 0 0.0005 0.0005 0 0 0.0009 0 0 0 0.0005 0.0006 0 0.0003 0.0007 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.184 @ . . . 0.46 0.39 182 ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.116 . . . HET . rs76608602 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.024 . . . . . . . . 1.0E-153 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 . -1.114 . . . rs76608602 rs76608602 1 1538 10 1/0 0,255,255 +rs74474011 7 100550745 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550745 100550745 Chr7(GRCh37):g.100550745T>C 1326 1326 XM_001725354.6:c.1326T>C p.Asn442= p.Asn442Asn 2 158371 1265 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs74474011 yes no Frequency/1000G 2 0.000000 0 0.473243 0.497000 0.462200 0.403800 0.506000 0.497100 transition T C T>C 0.000 -2.054 N Asn AAT 0.464 N Asn AAC 0.536 442 255 PASS . . . . . 0.5 0.47 0.5 0.4 0.51 0.46 . . MUC3A:NM_005960:exon2:c.T1326C:p.N442N . . 0.5869565 . . @ 27 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N442|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5176 . . . . . . . . 7.933e-05 . . . 0 0 0 0 0 0 0 0 0 2.512e-05 0 0 0 4.317e-05 0 0 . . synonymous_SNV . . . upstream\x3bdownstream upstream exonic . . . 0.4732 . . . 0.45 0.43 182 ENSG00000169894\x3bENSG00000228273 . MUC3A . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74474011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74474011 rs74474011 1 1538 10 1/0 0,255,255 +rs532654719 7 100550749 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550749 100550749 Chr7(GRCh37):g.100550749A>G 1330 1330 XM_001725354.6:c.1330A>G p.Lys444Glu p.Lys444Glu 2 158371 1269 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 Cryptic Acceptor Strongly Activated 100550766 1.18393 0.008017 71.2148 1.33356 0.011212 71.2148 rs532654719 yes no Frequency/1000G 2 0.000000 0 0.271166 0.377500 0.286300 0.276800 0.190900 0.155600 transition A G A>G 0.000 -0.198 K Lys AAG 0.575 E Glu GAG 0.583 444 10 1 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Not scored 0.0 0.0 189 PASS . . . . . 0.38 0.27 0.16 0.28 0.19 0.29 . . MUC3A:NM_005960:exon2:c.A1330G:p.K444E . . 0.1322314 . . @ 16 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.122 . @ . . . . . 1 0.011 . . 121.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K444E|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4295 -0.053 -0.429 n . . . . . 8.666e-06 . . . . . . . . . . . 0 1.794e-05 0 0 0 3.178e-05 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream upstream exonic . . 0.112 0.2712 . . . . . . ENSG00000169894\x3bENSG00000228273 . MUC3A . . . 1.000 0.517 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.162 . . . LowAF . rs532654719 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.024 . . . . . . . . 1.0E-189 0.000 0.063 . 0.016 0.000 . 0.010 . 0.004 . -2.159 . . . . . 1 1538 10 1/0 0,221,255 +rs28654698 7 100550766 A T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550766 100550766 Chr7(GRCh37):g.100550766A>T 1347 1347 XM_001725354.6:c.1347A>T p.Arg449Ser p.Arg449Ser 2 158371 1286 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs28654698 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.000181 0.000486 0.000245 0.000000 0.000000 0.000000 0.000204 0.000260 0.000000 0.000486 19 3 3 0 0 0 11 2 0 104944 6176 12232 3902 6188 12796 53856 7696 2098 0.210526 0.000000 0.333333 0.000000 0.000000 0.000000 0.181818 0.500000 0.000000 4 0 1 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 117 Exomes transversion A T A>T 0.000 -2.377 R Arg AGA 0.205 S Ser AGT 0.149 449 10 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . 1. 1. 1. 1. 1. 1. . . MUC3A:NM_005960:exon2:c.A1347T:p.R449S . . 0.832 . . @ 208 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 250.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R449S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5919 . . . . . . . . 1.653e-04 . . . 0 1.956e-05 0 0 0 4.178e-05 0 0 0 9.297e-05 0 0 0.0002 0.0001 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . 0.0000 . . . 0.51 0.44 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs28654698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0.0002 0 0 0.0003 0.0002 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28654698 rs28654698 rs28654698 rs28654698 1 1538 10 1/0 0,218,217 +rs28530520 7 100550787 G A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550787 100550787 Chr7(GRCh37):g.100550787G>A 1368 1368 XM_001725354.6:c.1368G>A p.Leu456= p.Leu456Leu 2 158371 1307 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs28530520 yes no Frequency/1000G 2 G 0.000000 0 0.763179 0.703500 0.759700 0.823400 0.753500 0.808400 transition G A G>A 0.000 -0.521 L Leu TTG 0.127 L Leu TTA 0.073 456 165 PASS . . . . . 0.7 0.76 0.81 0.82 0.75 0.76 . . MUC3A:NM_005960:exon2:c.G1368A:p.L456L . . 0.1825963 . . @ 128 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 701.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L456|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4767 . . . . . . . . 8.924e-04 . . . 0 1.869e-05 0 0.0004 0 0 0 0 0 0 0 0 0 0 0 0 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . 0.2368 . . . 0.45 0.33 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28530520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-165 . . . . . . . . . . . . rs28530520 rs28530520 rs28530520 rs28530520 1 1538 14 1/0 0,152,224 +rs80228227 7 100550791 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550791 100550791 Chr7(GRCh37):g.100550791A>G 1372 1372 XM_001725354.6:c.1372A>G p.Thr458Ala p.Thr458Ala 2 158371 1311 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs80228227 yes no Frequency 1 A 0.000000 0 transition A G A>G 0.000 0.286 T Thr ACC 0.361 A Ala GCC 0.403 458 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 150 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1372G:p.T458A . . 0.12833545 . . @ 101 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.109 . @ . . . . . 1 0.018 . . 787.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T458A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.2512 -0.005 -0.251 n . . . . . 8.626e-06 . . . 0 1.278e-05 0 0 0 0 0 6.495e-05 0 1.018e-05 0 0 0 0 0 6.525e-05 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.167 @ . . . 0.45 0.37 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.046 . . . LowAF . rs80228227 . . . . . . . . . . . . . . . . . . . . . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . 1.0E-150 0.000 0.063 . 0.016 0.068 . 0.013 . 0.040 . 0.514 . . . rs80228227 rs80228227 1 1538 13 1/0 0,141,236 +rs28420633 7 100550800 G A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550800 100550800 Chr7(GRCh37):g.100550800G>A 1381 1381 XM_001725354.6:c.1381G>A p.Glu461Lys p.Glu461Lys 2 158371 1320 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs28420633 yes no Frequency 1 G 0.000000 0 0.006872 0.000000 0.053030 0.038462 0.176471 0.001408 0.030769 0.000000 0.000000 0.176471 25 0 7 2 6 2 8 0 0 3638 1670 132 52 34 1420 260 32 38 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 7 2 6 2 8 0 0 0 0 0 0 0 0 0 0 0 PASS 11405 Exomes transition G A G>A 0.000 -1.812 E Glu GAG 0.583 K Lys AAG 0.575 461 10 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 189 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.G1381A:p.E461K . . 0.1315508 . . @ 123 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.063 . . 935.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E461K|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5951 -0.056 -0.595 n . . . . . 1.167e-03 . . . 0 8.093e-05 0 0.0017 0 9.61e-05 0 0 0 0 0 0 0 0 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.041 @ . . . 0.42 0.34 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.017 . . . LowAF . rs28420633 . . . . . . . . . . . . . . . . . . . . . . . . . 0.021 . . . 0 0.0069 0.0530 0.0385 0.1765 0 0.0308 0 0.0014 . . . . . . . . . . 0.051 . . . . . . . . 1.0E-189 0.000 0.063 . 0.016 0.005 . 0.026 . 0.005 . 0.450 . rs28420633 rs28420633 rs28420633 rs28420633 1 1538 10 1/0 0,133,241 +rs571803055 7 100550806 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550806 100550806 Chr7(GRCh37):g.100550806A>C 1387 1387 XM_001725354.6:c.1387A>C p.Thr463Pro p.Thr463Pro 2 158371 1326 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 Cryptic Acceptor Strongly Activated 100550817 0.000267 68.8814 0.48716 0.001657 71.1662 rs571803055 yes no Frequency/1000G 2 A 0.327276 C 1639 0.327276 0.304800 0.257700 0.385900 0.359800 0.335700 0.000337 0.000406 0.000630 0.000000 0.000907 0.000326 0.000238 0.000100 0.000981 0.000907 48 3 11 0 7 6 17 1 3 142450 7396 17450 7006 7718 18404 71456 9962 3058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 3 11 0 7 6 17 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.286 T Thr ACC 0.361 P Pro CCC 0.328 463 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 150 PASS . . . . . 0.3 0.33 0.34 0.39 0.36 0.26 . . MUC3A:NM_005960:exon2:c.A1387C:p.T463P . . 0.12815338 . . @ 127 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.131 . @ . . . . . 1 0.033 . . 991.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T463P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.1383 0.082 -0.138 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.113 0.3273 . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.517 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.200 . . . LowAF . rs571803055 . . . . . . . . . . . . . . . . . . . . . . . . . 0.040 . . . 0.0004 0.0003 0.0006 0 0.0008 0.0001 0.0002 0.0010 0.0003 0 0.0011 0 0 0.25 0 0.0008 0 . . 0.051 . . . . . . . . 1.0E-150 0.000 0.063 . 0.016 0.016 . 0.122 . 0.122 . -1.518 . . . . . 1 1538 13 1/0 0,131,231 +rs750477060 7 100550818 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550818 100550818 Chr7(GRCh37):g.100550818A>C 1399 1399 XM_001725354.6:c.1399A>C p.Thr467Pro p.Thr467Pro 2 158371 1338 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs750477060 no no 0 A 0.000000 0 transversion A C A>C 0.043 0.851 T Thr ACT 0.243 P Pro CCT 0.283 467 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 134 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1399C:p.T467P . . 0.12190651 . . @ 133 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.121 . @ . . . . . 1 0.055 . . 1091.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Cct|T467P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0687 0.096 -0.069 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.195 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.201 . . . LowAF . rs750477060 . . . . . . . . . . . . . . . . . . . . . . . . . 0.108 . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . 1.0E-134 0.000 0.063 . 0.043 0.008 . 0.092 . 0.086 . 0.158 . . . . . 1 1538 13 1/0 0,127,239 +rs753077364 7 100550842 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550842 100550842 Chr7(GRCh37):g.100550842A>G 1423 1423 XM_001725354.6:c.1423A>G p.Thr475Ala p.Thr475Ala 2 158371 1362 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs753077364 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 189430 10620 29270 8354 15898 28914 82446 9464 4464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 281 Exomes transition A G A>G 0.000 -1.812 T Thr ACC 0.361 A Ala GCC 0.403 475 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 139 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1423G:p.T475A . . 0.14131501 . . @ 144 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.005 . . 1019.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T475A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.7693 0.039 -0.769 n . . . . . 1.009e-04 . . . 0.0003 7.753e-05 0 0 0 0.0001 0 0 0.0001 6.242e-05 0 0 0 0.0001 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.041 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.110 . . . LowAF . rs753077364 . . . . . . . . . . . . . . . . . . . . . . . . . 0.022 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.051 . . . . . . . . 1.0E-139 0.000 0.063 . 0.016 0.010 . 0.079 . 0.123 . 0.514 . . . . . 1 1538 13 1/0 0,133,234 +rs766383810 7 100550893 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550893 100550893 Chr7(GRCh37):g.100550893A>G 1474 1474 XM_001725354.6:c.1474A>G p.Thr492Ala p.Thr492Ala 2 158371 1413 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs766383810 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223542 13694 33128 9516 16882 30464 102118 12536 5204 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 176 Exomes transition A G A>G 0.000 -0.198 T Thr ACC 0.361 A Ala GCC 0.403 492 10 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Not scored 0.0 0.0 101 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1474G:p.T492A . . 0.11463845 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.008 . . 567.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T492A|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.2705 0.055 -0.270 n . . . . . 3.682e-04 . . . 0.0001 0.0004 0 0 0.0003 0.0005 0 0.0006 0.0001 0.0004 0 0.0001 0.0003 0.0005 0 0.0006 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.081 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.165 . . . LowAF . rs766383810 . . . . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.051 . . . . . . . . 1.0E-101 0.000 0.063 . 0.016 0.012 . 0.087 . 0.005 . 0.514 . . . . . 1 1538 14 1/0 0,158,255 +rs113663819 7 100550901 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550901 100550901 Chr7(GRCh37):g.100550901C>T 1482 1482 XM_001725354.6:c.1482C>T p.Thr494= p.Thr494Thr 2 158371 1421 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs113663819 yes no Frequency/1000G 2 0.000000 0 0.007388 0.009100 0.004100 0.004000 0.008900 0.011500 0.000211 0.000568 0.000727 0.000000 0.000409 0.000082 0.000070 0.000087 0.000516 0.000727 37 5 17 0 4 2 6 1 2 175672 8802 23396 8280 9778 24464 85598 11480 3874 0.000011 0.000000 0.000000 0.000000 0.000000 0.000082 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 35 5 17 0 4 0 6 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.732 T Thr ACC 0.361 T Thr ACT 0.243 494 103 PASS . . . . . 0.0091 0.0074 0.011 0.004 0.0089 0.0041 . . MUC3A:NM_005960:exon2:c.C1482T:p.T494T . . 0.17659138 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 487.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T494|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5060 . . . . . . . . . . . . 0.0012 0.0004 0.0006 0 0 0.0004 0.0017 0.0003 0.0012 0.0004 0.0007 0.0001 0 0.0003 0.0016 0.0003 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . 0.0074 . . . 0.45 0.41 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113663819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0.0007 0 0.0002 0 0 0.0003 8.175e-05 0.0065 0.0024 0.0135 0 0.0294 0.0172 0.0013 0.0079 . . . . . . . . . . . 1.0E-103 . . . . . . . . . . . . . . rs113663819 rs113663819 1 1538 14 1/0 0,175,250 +rs554159556 7 100550902 G A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550902 100550902 Chr7(GRCh37):g.100550902G>A 1483 1483 XM_001725354.6:c.1483G>A p.Glu495Lys p.Glu495Lys 2 158371 1422 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs554159556 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.001500 0.000000 0.000000 0.000000 0.001400 0.000069 0.000994 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000219 0.000994 14 12 0 0 0 0 1 0 1 203606 12070 27182 9172 14358 27904 96424 11932 4564 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 12 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.570 E Glu GAG 0.583 K Lys AAG 0.575 495 10 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 183 PASS . . . . . 0.0015 0.0006 0.0014 . . . . . MUC3A:NM_005960:exon2:c.G1483A:p.E495K . . 0.11890838 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.073 . @ . . . . . 1 0.107 . . 513.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E495K|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5543 0.005 -0.554 n . . . . . 5.167e-05 . . . 0.0007 7.724e-05 9.112e-05 0 0 0 0 0 0.0006 5.191e-05 9.302e-05 0 0 0 0 0 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.041 0.0006 . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.094 . . . LowAF . rs554159556 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0.0009 6.111e-05 0 0 0 0 0 0.0002 0 0.0030 0.0003 0 0 0 0 0.0002 0 . . 0.051 . . . . . . . . 1.0E-183 0.000 0.063 . 0.016 0.003 . 0.005 . 0.001 . 0.450 . . . . . 1 1538 10 1/0 0,157,255 +rs771820781 7 100550908 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100550908 100550908 Chr7(GRCh37):g.100550908A>C 1489 1489 XM_001725354.6:c.1489A>C p.Thr497Pro p.Thr497Pro 2 158371 1428 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs771820781 yes no Frequency 1 A 0.000000 0 0.004356 0.069767 0.016129 0.000000 0.125000 0.000000 0.002072 0.083333 0.006757 0.125000 28 12 1 0 1 0 12 1 1 6428 172 62 234 8 0 5792 12 148 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 12 1 0 1 0 12 1 1 0 0 0 0 0 0 0 0 0 PASS 4665 Genomes transversion A C A>C 0.000 0.448 T Thr ACC 0.361 P Pro CCC 0.328 497 10 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Not scored 0.0 0.0 147 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1489C:p.T497P . . 0.1119403 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.108 . @ . . . . . 1 0.013 . . 402.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T497P|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.1973 0.061 -0.197 n . . . . . 2.826e-04 . . . 0.0003 0.0003 0.0003 0 0 0.0004 0 0.0001 0.0003 0.0003 0.0002 0.0001 0.0002 0.0004 0 0.0001 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.167 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.158 . . . LowAF . rs771820781 . . . . . . . . . . . . . . . . . . . . . . . . . 0.072 . . . . . . . . . . . . 0.0698 0.0044 0.0161 0 0.125 0.0833 0.0021 0.0068 . . 0.051 . . . . . . . . 1.0E-147 0.000 0.063 . 0.016 0.002 . 0.049 . 0.001 . -1.431 . . . . . 1 1538 10 1/0 0,169,255 +rs773457827 7 100550913 A C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100550913 100550913 Chr7(GRCh37):g.100550913A>C 1494 1494 XM_001725354.6:c.1494A>C p.Ser498= p.Ser498Ser 2 158371 1433 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs773457827 yes no Frequency 1 A 0.000000 0 0.002633 0.018182 0.000000 0.000000 0.200000 0.000000 0.001729 0.166667 0.009091 0.200000 15 2 0 0 2 0 9 1 1 5698 110 42 214 10 0 5206 6 110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 2 0 0 2 0 9 1 1 0 0 0 0 0 0 0 0 0 RF 4883 Genomes transversion A C A>C 0.000 -0.844 S Ser TCA 0.148 S Ser TCC 0.220 498 182 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1494C:p.S498S . . 0.11494253 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 348.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcC|S498|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3214 . . . . . . . . 1.458e-04 . . . 0.0001 0.0002 0 0 0 0.0002 0 0.0002 0.0001 0.0001 0 0 0 0.0002 0 0.0002 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs773457827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0182 0.0026 0 0 0.2 0.1667 0.0017 0.0091 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +rs796808745 7 100551032 T A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551032 100551032 Chr7(GRCh37):g.100551032T>A 1613 1613 XM_001725354.6:c.1613T>A p.Phe538Tyr p.Phe538Tyr 2 158371 1552 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796808745 no no 0 T 0.000000 0 0.000035 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 0.000073 1 0 0 0 0 0 1 0 0 28406 8050 778 292 1370 0 13708 3324 884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 694 Genomes transversion T A T>A 0.000 -0.844 F Phe TTC 0.546 Y Tyr TAC 0.562 538 10 1 3 3 4 0 0.2 5.II 6.II 132 136 22 C0 353.86 0.00 Not scored 0.0 0.0 175 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1613A:p.F538Y . . 0.10273973 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.085 . @ . . . . . 1 0.020 . . 292.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tAc|F538Y|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.5683 -0.085 -0.568 n . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.094 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 1 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.021 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.013 . . . . . . . . . . . . 0 3.52e-05 0 0 0 0 7.295e-05 0 . . 0.051 . . . . . . . . 1.0E-175 0.000 0.063 . 0.016 0.002 . 0.001 . 0.006 . -0.400 . . . . . 1 1538 10 1/0 0,180,255 +rs796699917 7 100551039 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551039 100551039 Chr7(GRCh37):g.100551039T>C 1620 1620 XM_001725354.6:c.1620T>C p.Ser540= p.Ser540Ser 2 158371 1559 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796699917 no no 0 T 0.000000 0 0.000205 0.000000 0.000000 0.000000 0.000000 0.000000 0.000280 0.000000 0.000000 0.000280 2 0 0 0 0 0 2 0 0 9754 1328 142 262 126 0 7132 508 256 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 1847 Genomes transition T C T>C 0.000 0.205 S Ser TCT 0.185 S Ser TCC 0.220 540 187 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1620C:p.S540S . . 0.12676056 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 284.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S540|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.6148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs371082444 7 100551042 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551042 100551042 Chr7(GRCh37):g.100551042A>G 1623 1623 XM_001725354.6:c.1623A>G p.Ser541= p.Ser541Ser 2 158371 1562 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs371082444 no no 0 A 0.000000 0 0.000470 0.000000 0.016667 0.000000 0.000000 0.000000 0.000172 0.000000 0.007692 0.016667 3 0 1 0 0 0 1 0 1 6386 142 60 222 8 0 5814 10 130 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 2652 Genomes transition A G A>G 0.000 -0.521 S Ser TCA 0.148 S Ser TCG 0.056 541 148 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1623G:p.S541S . . 0.128 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 250.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S541|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.3996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs371082444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0167 0 0 0 0.0002 0.0077 . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . rs371082444 rs371082444 1 1538 15 1/0 0,191,255 +rs796152723 7 100551054 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551054 100551054 Chr7(GRCh37):g.100551054T>C 1635 1635 XM_001725354.6:c.1635T>C p.Thr545= p.Thr545Thr 2 158371 1574 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs796152723 no no 0 C 0.000000 0 0.000312 0.000000 0.000000 0.000000 0.000000 0.000000 0.000343 0.000000 0.000000 0.000343 2 0 0 0 0 0 2 0 0 6410 130 62 240 8 0 5826 6 138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 2288 Genomes transition T C T>C 0.000 -1.489 T Thr ACT 0.243 T Thr ACC 0.361 545 130 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1635C:p.T545T . . 0.115384616 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 182.0 . . SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T545|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-130 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +rs569409437 7 100551061 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551061 100551061 Chr7(GRCh37):g.100551061C>A 1642 1642 XM_001725354.6:c.1642C>A p.Pro548Thr p.Pro548Thr 2 158371 1581 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs569409437 yes no Frequency/1000G 2 A 0.001198 A 6 0.001198 0.001500 0.003100 0.001000 0.000000 0.000000 0.000871 0.000216 0.000761 0.003243 0.000000 0.000805 0.000925 0.000000 0.002993 0.003243 199 3 25 31 0 24 100 0 16 228432 13898 32850 9560 16382 29830 108102 12464 5346 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 2 0 0 0 0 0 2 0 0 195 3 25 31 0 24 96 0 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -1.893 P Pro CCC 0.328 T Thr ACC 0.361 548 10 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Not scored 0.0 0.0 193 PASS . . . . . 0.0015 0.0012 . 0.001 . 0.0031 . . MUC3A:NM_005960:exon2:c.C1642A:p.P548T . . 0.14150943 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.108 . @ . . . . . 1 0.023 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P548T|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.0210 3.074 0.021 n . . . . . 9.577e-04 . . . 0 0.0012 0.0005 0.0016 0.0003 0.0016 0.0031 0.0013 0 0.0010 0.0005 0.0013 0.0002 0.0012 0 0.0013 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.050 0.0012 . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.015 . . . LowAF . rs569409437 . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 . . . 7.263e-05 0.0008 0.0007 0.0032 0 0 0.0009 0.0021 0.0008 0.0154 0.0031 0.0370 0.0051 0 0 0.0015 0.0329 . . 0.051 . . . . . . . . 1.0E-193 0.000 0.063 . 0.016 0.009 . 0.006 . 0.002 . -1.563 . . . . . 1 1538 10 1/0 0,227,255 +rs748220528 7 100551078 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551078 100551078 Chr7(GRCh37):g.100551078T>C 1659 1659 XM_001725354.6:c.1659T>C p.Pro553= p.Pro553Pro 2 158371 1598 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs748220528 yes no Frequency 1 C 0.000000 0 0.000223 0.000077 0.000136 0.000226 0.001036 0.000334 0.000117 0.000330 0.000424 0.001036 47 1 4 2 13 9 12 4 2 210404 13022 29514 8852 12552 26926 102688 12134 4716 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 1 4 2 13 9 12 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.037 P Pro CCT 0.283 P Pro CCC 0.328 553 185 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1659C:p.P553P . . 0.125 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 56.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P553|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0653 . . . . . . . . 5.711e-03 . . . 0.0006 0.0063 0.0019 0.0260 0.0032 0.0035 0.0126 0.0131 0.0007 0.0060 0.0018 0.0264 0.0030 0.0027 0.0134 0.0132 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs748220528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0.0002 0.0010 0.0002 9.222e-05 0.0004 0.0003 0.0086 0.0011 0 0 0.25 0.1667 0.0006 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs749410668 7 100551082 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551082 100551082 Chr7(GRCh37):g.100551082C>T 1663 1663 XM_001725354.6:c.1663C>T p.Leu555Phe p.Leu555Phe 2 158371 1602 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs749410668 yes no Frequency 1 T 0.000000 0 0.000193 0.000000 0.000127 0.000524 0.000791 0.000313 0.000074 0.000321 0.000391 0.000791 43 0 4 5 11 9 8 4 2 222760 13730 31618 9546 13902 28752 107632 12464 5116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 0 4 5 11 9 8 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -4.556 L Leu CTC 0.197 F Phe TTC 0.546 555 10 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Not scored 0.0 0.0 190 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1663T:p.L555F . . 0.13725491 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.020 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L555F|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3355 3.023 -0.336 n . . . . . 5.436e-03 . . . 0.0006 0.0060 0.0019 0.0249 0.0027 0.0032 0.0125 0.0122 0.0007 0.0056 0.0018 0.0250 0.0026 0.0025 0.0133 0.0122 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.057 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.042 . . . LowAF . rs749410668 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0 0.0002 0.0001 0.0005 0.0007 0.0002 6.875e-05 0.0004 0.0003 0 0.0005 0 0 0.1667 0.125 0.0002 0 . . 0.024 . . . . . . . . 1.0E-190 0.000 0.063 . 0.016 0.000 . 0.007 . 0.013 . -1.944 . . . . . 1 1538 10 1/0 0,255,255 +rs72494466 7 100551122 T G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551122 100551122 Chr7(GRCh37):g.100551122T>G 1703 1703 XM_001725354.6:c.1703T>G p.Ile568Ser p.Ile568Ser 2 158371 1642 3' 75.9231 5.73691 0.030083 5.79971 75.9231 5.73691 0.030083 5.79971 0 rs72494466 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.004100 0.009900 0.000000 0.001400 0.000032 0.000073 0.000000 0.000000 0.000230 0.000000 0.000019 0.000080 0.000000 0.000230 7 1 0 0 3 0 2 1 0 220904 13702 31426 9514 13062 28612 107048 12440 5100 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 3 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -3.669 I Ile ATT 0.356 S Ser AGT 0.149 568 10 1 -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 353.86 0.00 Not scored 0.0 0.0 244 PASS . . . . . . 0.003 0.0014 0.0099 . 0.0041 . . MUC3A:NM_005960:exon2:c.T1703G:p.I568S . . 0.29032257 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.071 . @ . . . . . 1 0.038 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aGt|I568S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3934 3.015 -0.393 n . . . . . 1.486e-03 . . . 0.0002 0.0015 0.0008 0.0093 0.0008 0.0007 0 0.0023 0.0003 0.0016 0.0006 0.0093 0.0011 0.0006 0.0029 0.0023 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.057 0.0030 . . . 0.47 0.35 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.106 . . . HET . rs72494466 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0 1.397e-05 0 0 0.0002 0 0 0 0 0.0076 0.0006 0 0 0 0.0833 0.0004 0 . . 0.024 . . . . . . . . 1.0000000000000001E-244 0.000 0.063 . 0.016 0.000 . 0.003 . 0.001 . -2.081 . . rs72494466 rs72494466 rs72494466 1 1538 10 1/0 0,255,255 +rs760549664 7 100551129 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551129 100551129 Chr7(GRCh37):g.100551129T>C 1710 1710 XM_001725354.6:c.1710T>C p.Pro570= p.Pro570Pro 2 158371 -1646 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 rs760549664 yes no Frequency 1 C 0.000000 0 0.000037 0.000000 0.000032 0.000106 0.000161 0.000071 0.000009 0.000080 0.000000 0.000161 8 0 1 1 2 2 1 1 0 218424 13550 31154 9402 12388 28258 106224 12430 5018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 1 1 2 2 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.360 P Pro CCT 0.283 P Pro CCC 0.328 570 205 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.T1710C:p.P570P . . 0.17460318 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P570|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.0947 . . . . . . . . 6.249e-04 . . . 0 0.0006 0.0004 0.0031 0.0003 0.0003 0 0.0011 0 0.0006 0.0002 0.0033 0.0006 0.0002 0.0029 0.0011 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs760549664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.825e-05 3.216e-05 0.0001 0.0002 0 0 0 7.078e-05 0 0.0003 0 0 0 0.1667 0.0002 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs768640080 7 100551130 G A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551130 100551130 Chr7(GRCh37):g.100551130G>A 1711 1711 XM_001725354.6:c.1711G>A p.Gly571Ser p.Gly571Ser 2 158371 -1645 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 New Acceptor Site 100551132 3.78756 0.044952 69.766 rs768640080 yes no Frequency 1 C 0.000000 0 0.000051 0.000000 0.000033 0.000107 0.000170 0.000072 0.000038 0.000081 0.000000 0.000170 11 0 1 1 2 2 4 1 0 214358 13214 30258 9312 11752 27682 104874 12378 4888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 1 2 2 4 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.651 G Gly GGC 0.342 S Ser AGC 0.243 571 10 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 182 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.G1711A:p.G571S . . 0.11764706 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.079 . @ . . . . . 1 0.151 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G571S|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.3867 3.008 -0.387 n . . . . . 6.500e-04 . . . 0 0.0006 0.0004 0.0033 0.0003 0.0003 0 0.0011 0 0.0007 0.0002 0.0035 0.0006 0.0003 0.0029 0.0011 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.074 @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.076 . . . LowAF . rs768640080 . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 . . . 0 3.36e-05 3.311e-05 0.0001 0.0002 0 1.006e-05 0 7.225e-05 0 0.0007 0 0 0 0.1667 0.0005 0 . . 0.024 . . . . . . . . 1.0E-182 0.000 0.063 . 0.016 0.001 . 0.037 . 0.009 . -0.527 . . . . . 1 1538 10 1/0 0,244,255 +rs113251740 7 100551133 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551133 100551133 Chr7(GRCh37):g.100551133C>T 1714 1714 XM_001725354.6:c.1714C>T p.Leu572Phe p.Leu572Phe 2 158371 -1642 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 rs113251740 no no 0 T 0.000000 0 0.000045 0.000072 0.000032 0.000107 0.000150 0.000070 0.000028 0.000000 0.000000 0.000150 10 1 1 1 2 2 3 0 0 220864 13818 31414 9362 13306 28430 107040 12408 5086 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 1 1 1 2 2 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -4.234 L Leu CTC 0.197 F Phe TTC 0.546 572 10 1 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Not scored 0.0 0.0 247 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.C1714T:p.L572F . . 0.3 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.037 . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L572F|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . -0.4612 3.001 -0.461 n . . . . . . . . . 0 0.0004 0.0004 0.0019 0 0.0003 0 0.0007 0 0.0004 0.0002 0.0021 0.0003 0.0002 0.0029 0.0007 . . nonsynonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . 0.059 @ . . . 0.52 0.33 182 ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.010 . . . HET . rs113251740 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0 2.8e-05 3.189e-05 0.0001 0.0002 0 0 0 7.035e-05 0.0060 0.0006 0 0 0 0 0.0005 0 . . 0.024 . . . . . . . . 1.0E-247 0.000 0.063 . 0.016 0.002 . 0.001 . 0.003 . -1.380 . . . rs113251740 rs113251740 1 1538 10 1/0 0,255,255 +rs374707597 7 100551144 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution synonymous exon GRCh37 100551144 100551144 Chr7(GRCh37):g.100551144A>G 1725 1725 XM_001725354.6:c.1725A>G p.Ser575= p.Ser575Ser 2 158371 -1631 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 rs374707597 yes no Frequency 1 A 0.000000 0 0.000031 0.000072 0.000000 0.000000 0.000065 0.000000 0.000046 0.000000 0.000000 0.000072 7 1 0 0 1 0 5 0 0 227490 13932 32644 9514 15296 29570 108802 12456 5276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 1 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.409 S Ser TCA 0.148 S Ser TCG 0.056 575 113 PASS . . . . . . . . . . . . . MUC3A:NM_005960:exon2:c.A1725G:p.S575S . . 0.11340206 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S575|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) . . . . . . . 0.0017 . . . . . . . . 1.180e-04 . . . 0 0.0002 0.0003 0 0 0.0001 0 0.0004 0 9.9e-05 9.04e-05 0 0.0002 3.857e-05 0 0.0004 . . synonymous_SNV . . . upstream\x3bdownstream ncRNA_exonic exonic . . . @ . . . . . . ENSG00000169894\x3bENSG00000228273 MUC3B MUC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs374707597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.358e-05 0 0 6.543e-05 0 1.944e-05 0 0 0.0063 0.0006 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . . . rs374707597 rs374707597 1 1538 10 1/0 0,233,255 +rs371389894 7 100551272 C A - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution missense exon GRCh37 100551272 100551272 Chr7(GRCh37):g.100551272C>A 1853 1853 XM_001725354.6:c.1853C>A p.Ser618Tyr p.Ser618Tyr 2 158371 -1503 5' 74.7149 5.59041 0.548108 4.07631 74.7149 5.59041 0.548108 4.07631 0 rs371389894 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.007600 0.000000 0.000000 0.000000 0.001400 0.000714 0.011422 0.000149 0.000000 0.000000 0.000000 0.000000 0.000000 0.000184 0.011422 167 161 5 0 0 0 0 0 1 234050 14096 33446 9916 16944 30510 111150 12552 5436 0.000009 0.000142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 165 159 5 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3982 1737 5719 0 15 15 0 0.00856164 0.00261597 0 0.00856164 0.00261597 185 COSM5765570 Large intestine 0.000450 2220 transversion C A C>A 0.016 1.255 S Ser TCC 0.220 Y Tyr TAC 0.562 618 10 2 Gorilla -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 353.86 0.00 Tolerated 0.19 IV.32 175 PASS . . . . . 0.0076 0.0022 0.0014 . . . ENSG00000169894:ENST00000319509:exon1:c.C23A:p.S8Y . MUC3A:NM_005960:exon2:c.C1853A:p.S618Y . . 0.10204082 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.223 . @ . . . . . 1 0.103 . . 196.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S618Y|MUC3A|mRNA|CODING|NM_005960|NM_005960.ex.2) 0.0086 0.0026 . 0.0086 0.0026 . . -0.9583 -1.087 -0.958 c . . . . . 4.984e-04 . . . 0.0070 0.0007 8.817e-05 0 0 0 0 0 0.0073 0.0005 9.038e-05 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV . . . exonic ncRNA_exonic exonic . . 0.194 0.0022 . . . 0.37 0.32 182 ENSG00000169894 MUC3B MUC3A . . . 1.000 0.747 . 10 0.000153903 64976 0 0 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.044 . . 0.281 . . . 0.065 . . . . . 0 0 0 0 0 0 0 1 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.232 . 0.092 . LowAF 0 rs371389894 . . . . . . . . . . . . VI.16 0.008373 ENST00000319509 I.99 1.IX . 0.060000 . . . . 0.002616 . 0.154 . . . 0.0072 0.0005 0.0001 0 0 0 0 0 0 0.2460 0.0090 0 0 0 0 0 0.0066 . . 0.003 . 0.403 0.403000 . . 0.060000 . . 1.0E-175 0.000 0.063 . 0.043 0.000 . 0.092 . 0.067 0.403 -0.747 0.0086 . . rs371389894 rs371389894 1 1538 10 1/0 0,197,255 +rs4992769 7 100607703 A G - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution intron GRCh37 100607703 100607703 Chr7(GRCh37):g.100607703A>G 3723-43 3723-43 XM_001725354.6:c.3723-43A>G p.? p.? 6 5 158371 -43 3' 77.6864 3.24104 0.20611 0 77.6864 3.24104 0.20611 0 0 rs4992769 yes no Frequency 1 A 0.000000 0 0.000077 0.000000 0.000213 0.000000 0.000300 0.000544 0.000000 0.000000 0.000000 0.000544 5 0 1 0 1 3 0 0 0 65358 5766 4702 3134 3336 5510 36900 4448 1562 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 1 3 0 0 0 0 0 0 0 0 0 0 0 0 RF 270 Exomes transition A G A>G 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . INTRON(MODIFIER||||MUC3A|mRNA|CODING|NM_005960|) . . . . . . . -0.3769 . . . . . . . . 3.809e-05 . . . 0 4.352e-05 0 0 0 0 0 0.0004 0 3.4e-05 0 0 0 0 0 0.0004 . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.24 0.51 182 ENSG00000225946 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992769 0.174 0.159 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.65e-05 0.0002 0 0.0003 0 0 0 0.0005 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.17 rs4992769 rs4992769 rs4992769 rs4992769 1 1538 10 1/0 0,215,255 +rs4992768 7 100607706 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution intron GRCh37 100607706 100607706 Chr7(GRCh37):g.100607706T>C 3723-40 3723-40 XM_001725354.6:c.3723-40T>C p.? p.? 6 5 158371 -40 3' 77.6864 3.24104 0.20611 0 77.6864 3.24104 0.20611 0 0 rs4992768 yes no Frequency 1 T 0.000000 0 0.000015 0.000000 0.000000 0.000000 0.000000 0.000180 0.000000 0.000000 0.000000 0.000180 1 0 0 0 0 1 0 0 0 65570 5794 4678 3160 3348 5542 37036 4454 1558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 279 Exomes transition T C T>C 0.000 -1.086 215 PASS . . . . . . . . . . . . . . . . 0.19863014 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . INTRON(MODIFIER||||MUC3A|mRNA|CODING|NM_005960|) . . . . . . . -0.5905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.29 0.48 182 ENSG00000225946 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.525e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs4992768 rs4992768 rs4992768 rs4992768 1 1538 10 1/0 0,219,255 +rs4992767 7 100607707 T C - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution intron GRCh37 100607707 100607707 Chr7(GRCh37):g.100607707T>C 3723-39 3723-39 XM_001725354.6:c.3723-39T>C p.? p.? 6 5 158371 -39 3' 77.6864 3.24104 0.20611 0 77.6864 3.24104 0.20611 1.08529 0 rs4992767 yes no Frequency 1 T 0.000000 0 0.000026 0.000000 0.000000 0.000000 0.000068 0.000117 0.000000 0.000092 0.000000 0.000117 5 0 0 0 1 3 0 1 0 192966 12120 28678 7906 14714 25658 88586 10844 4460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 1 3 0 1 0 0 0 0 0 0 0 0 0 0 RF 94 Exomes transition T C T>C 0.000 -0.117 202 PASS . . . . . . . . . . . . . . . . 0.16374269 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 171.0 . . INTRON(MODIFIER||||MUC3A|mRNA|CODING|NM_005960|) . . . . . . . -0.3143 . . . . . . . . 1.674e-05 . . . 0 1.25e-05 0 0 0 0 0 6.798e-05 0 1.01e-05 0 0 0 0 0 6.837e-05 . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.3 0.48 182 ENSG00000225946 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.591e-05 0 0 6.796e-05 9.222e-05 0 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs4992767 rs4992767 rs4992767 rs4992767 1 1538 10 1/0 0,209,255 +rs4992766 7 100607709 C T - MUC3A 7513 Mucin 3A, cell surface associated XM_001725354.6 1 5934 4461 XP_001725406.4 substitution intron GRCh37 100607709 100607709 Chr7(GRCh37):g.100607709C>T 3723-37 3723-37 XM_001725354.6:c.3723-37C>T p.? p.? 6 5 158371 -37 3' 77.6864 3.24104 0.20611 0 77.6864 3.24104 0.20611 0 0 rs4992766 yes no Frequency 1 C 0.000000 0 0.000010 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 0.000000 0.000077 2 0 0 0 0 2 0 0 0 193590 12130 28800 7918 14816 25836 88736 10874 4480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 96 Exomes transition C T C>T 0.000 -0.360 204 PASS . . . . . . . . . . . . . . . . 0.16860466 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . INTRON(MODIFIER||||MUC3A|mRNA|CODING|NM_005960|) . . . . . . . -0.2447 . . . . . . . . 8.373e-06 . . . 0 1.249e-05 0 0 0 0 0 6.759e-05 0 1.01e-05 0 0 0 0 0 6.798e-05 . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.3 0.51 182 ENSG00000225946 . MUC3A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.033e-05 0 0 0 0 0 0 7.741e-05 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs4992766 rs4992766 rs4992766 rs4992766 1 1538 10 1/0 0,209,255 +rs78669523 7 100616151 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution intron GRCh37 100616151 100616151 Chr7(GRCh37):g.100616151G>A 67+3181 67+3181 NM_001164462.1:c.67+3181G>A p.? p.? 1 1 604609 3181 5' 95.6376 X.36 0.996295 12.0055 95.6376 X.36 0.996295 12.0055 0 rs78669523 no no 0 G 0.000000 0 0.001283 0.004735 0.000000 0.000000 0.000000 0.000000 0.000140 0.006809 0.000000 0.006809 13 5 0 0 0 0 1 7 0 10130 1056 210 264 108 0 7168 1028 296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 5 0 0 0 0 1 7 0 0 0 0 0 0 0 0 0 0 RF 159 Genomes transition G A G>A 0.008 0.205 215 PASS . . . . . . . . . . . ENSG00000205277:ENST00000379442:exon3:c.G114A:p.W38X . . . . 0.2 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.092 . @ . . . . . 2 0.227 . . 55.0 . . . . . . . . . . -0.8646 -1.055 -0.865 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . . exonic intronic intronic . . 0.171 @ . . . 0.28 0.36 182 ENSG00000205277 MUC12 MUC12 . . . 0.072 0.156 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . 0.172 . . . HET . rs78669523 . . . . . . . . . . . . V.79 . ENST00000379442 I.61 0.678 . 1.000000 . . . . . . 0.045 . . . . . . . . . . . . 0.0047 0.0013 0 0 0 0.0068 0.0001 0 . . 0.185 . 0.223 0.223000 . . 1.000000 . . 1.0E-215 0.000 0.063 . 0.074 0.007 . 0.092 . 0.119 0.223 -0.913 . . . rs78669523 rs78669523 1 1538 10 1/0 0,255,255 +rs770439045 7 100636107 C A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100636107 100636107 Chr7(GRCh37):g.100636107C>A 2263 2263 NM_001164462.1:c.2263C>A p.Pro755Thr p.Pro755Thr 2 604609 2196 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs770439045 yes no Frequency 1 0.000000 0 0.000165 0.001101 0.000081 0.000000 0.000000 0.000088 0.000098 0.000000 0.000000 0.001101 28 17 2 0 0 2 7 0 0 169456 15436 24686 8454 11652 22756 71318 10418 4736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 17 2 0 0 2 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.965 -0.521 P Pro CCT 0.283 T Thr ACT 0.243 755 12 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Not scored 0.0 0.0 good 4.415E-1 0.02834 180 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.C2263A:p.P755T MUC12:NM_001164462:exon2:c.C2263A:p.P755T . . 0.11304348 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.040 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P755T|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -1.1114 -1.286 -1.111 c . . . . . 2.811e-04 . . . 0.0031 0.0003 0 0 0 0 0 0.0001 0.0036 0.0003 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.148 . . exonic exonic exonic . . 0.098 @ . . . 0.21 0.26 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.157 0.006 . . 37 . 0.065 . . 0.414 . . . 0.380 0.192 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.134 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.614 . . . . . 0.126 . 0.138 . LowAF . rs770439045 . . . . . . . . . . . . IV.42 0.001425 . 0.481 -0.962 . 0.600000 . . . . . . 0.017 . . . 0.0006 8.644e-05 8.386e-05 0 0 0 7.088e-05 0 8.789e-05 0.0015 0.0005 0 0 0 0 0.0002 0 . . 0.372 . -0.633 -0.633000 . . 0.600000 . . 1.0E-180 0.000 0.063 . 0.016 0.131 . 0.046 . 0.048 -0.633 0.412 . . . rs67995939 rs67995939 1 1538 10 1/0 0,221,255 +. 7 100638315 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100638315 100638315 Chr7(GRCh37):g.100638315G>A 4471 4471 NM_001164462.1:c.4471G>A p.Glu1491Lys p.Glu1491Lys 2 604609 4404 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 0.003789 0.001472 0.002206 0.004831 0.000000 0.001663 0.006340 0.012585 0.005569 0.012585 202 8 23 6 0 10 120 26 9 53308 5434 10426 1242 7584 6012 18928 2066 1616 0.000038 0.000368 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 200 6 23 6 0 10 120 26 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 E Glu GAA 0.417 K Lys AAA 0.425 1491 12 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 good 5.727E-1 0.5324 196 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.G4471A:p.E1491K MUC12:NM_001164462:exon2:c.G4471A:p.E1491K . . 0.14935064 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.356 . . 462.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E1491K|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -1.0692 -1.249 -1.069 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.096 @ . . . 0.35 0.34 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.297 0.012 . . 37 . 0.048 . . 0.425 . . . 0.159 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.168 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . . . 0.062 . LowAF . . . . . . . . . . . . . . . . . 0.499 -0.998 . 0.650000 . . . . . . 0.040 . . . 0.0008 0.0033 0.0022 0.0049 0 0.0029 0.0064 0.0055 0.0017 0.0072 0.0098 0 0 0 0.0174 0.0052 0.0065 . . 0.246 . -0.602 -0.602000 . . 0.650000 . . 1.0E-196 0.000 0.063 . 0.016 0.230 . 0.148 . 0.016 -0.602 0.060 . . rs71256206 rs71256206 rs71256206 1 1538 10 1/0 0,164,255 +. 7 100638389 T A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution synonymous exon GRCh37 100638389 100638389 Chr7(GRCh37):g.100638389T>A 4545 4545 NM_001164462.1:c.4545T>A p.Val1515= p.Val1515Val 2 604609 4478 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 0.000234 0.000959 0.000363 0.001529 0.000000 0.000000 0.000089 0.000000 0.000000 0.001529 14 6 4 2 0 0 2 0 0 59792 6258 11030 1308 7792 6086 22354 3178 1786 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 6 4 2 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 -1.005 V Val GTT 0.178 V Val GTA 0.114 1515 232 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.T4545A:p.V1515V MUC12:NM_001164462:exon2:c.T4545A:p.V1515V . . 0.24764891 . . @ 158 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 638.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtT/gtA|V1515|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -0.4685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.31 182 ENSG00000205277 MUC12 MUC12 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0.0004 0.0016 0 0 0.0001 0 0 0.0022 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . rs71256207 rs71256207 rs71256207 1 1538 10 1/0 0,159,223 +rs202000974 7 100638621 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100638621 100638621 Chr7(GRCh37):g.100638621G>A 4777 4777 NM_001164462.1:c.4777G>A p.Gly1593Ser p.Gly1593Ser 2 604609 4710 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs202000974 yes no Frequency 1 G 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000089 0.000028 0.000000 0.000000 0.000089 4 0 0 0 0 2 2 0 0 168758 15394 24656 8354 11628 22478 71196 10354 4698 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.037 G Gly GGC 0.342 S Ser AGC 0.243 1593 12 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 178 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.G4777A:p.G1593S MUC12:NM_001164462:exon2:c.G4777A:p.G1593S . . 0.109004736 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.070 . @ . . . . . 1 0.231 . . 211.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1593S|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -1.1189 -1.281 -1.119 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.123 @ . . . 0.35 0.24 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.190 0.007 . . 37 . 0.061 . . 0.410 . . . 0.094 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.131 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.512 . . . . . 0.115 . 0.156 . LowAF . rs202000974 . . . . . . . . . . . . IV.84 . . 0.936 -0.256 . 0.750000 . . . . . . 0.013 . . . 0 1.439e-05 0 0 0 0 0 0 8.898e-05 0 6.716e-05 0 0 0 0 0.0001 0 . . 0.428 . -0.075 -0.075000 . . 0.750000 . . 1.0E-178 0.001 0.137 . 0.062 0.008 . 0.128 . 0.295 -0.075 0.427 . . . rs79638663 rs202000974 1 1538 10 1/0 0,195,255 +rs534166778 7 100638940 T C - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100638940 100638940 Chr7(GRCh37):g.100638940T>C 5096 5096 NM_001164462.1:c.5096T>C p.Met1699Thr p.Met1699Thr 2 604609 5029 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs534166778 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.003100 0.000000 0.000000 0.000000 0.000562 0.000062 0.000243 0.000000 0.000000 0.002371 0.000450 0.000094 0.000411 0.002371 97 1 6 0 0 54 33 1 2 172652 16106 24712 8542 11658 22776 73318 10668 4872 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 97 1 6 0 0 54 33 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -5.767 M Met ATG 1.000 T Thr ACG 0.116 1699 12 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 353.86 0.00 Not scored 0.0 0.0 good 7.495E-1 0.5544 218 PASS . . . . . . 0.0006 . . . 0.0031 . MUC12:uc003uxo.3:exon2:c.T5096C:p.M1699T MUC12:NM_001164462:exon2:c.T5096C:p.M1699T . . 0.20689656 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.003 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M1699T|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -2.7575 -2.917 -2.757 c . . . . . 8.271e-04 . . . 0 0.0011 0 0 0 0.0005 0 0.0022 0 0.0012 0 0 0 0.0008 0 0.0022 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.107 . . exonic exonic exonic . . 0.082 0.0006 . . . . . . ENSG00000205277 MUC12 MUC12 . . . 1.000 0.747 . 8 0.000123122 64976 6 0.000100023 59986 Uncertain_significance . 0 . . . . . . T 0.339 0.014 . . 37 . 0.035 . . 0.480 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.140 . . . . . . . 0.018 . HET . rs534166778 . . . . . . . . . . . . . 0.0 . 0.742 -1.48 . 1.000000 . . . . . . 0.001 . . . 0 0.0006 0.0002 0 0 0 0.0005 0.0005 0.0024 0.0001 0.0002 0.0012 0 0 0.0003 0.0003 0 . . 0.283 . -5.961 -5.961000 . . 1.000000 . . 1.0E-218 0.000 0.063 . 0.016 0.148 . 0.020 . 0.004 -5.961 -2.049 . . . . . 1 1538 10 1/0 0,229,255 +rs116336397 7 100638941 G C - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100638941 100638941 Chr7(GRCh37):g.100638941G>C 5097 5097 NM_001164462.1:c.5097G>C p.Met1699Ile p.Met1699Ile 2 604609 5030 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs116336397 yes no Frequency/1000G 2 0.000000 0 0.005192 0.018900 0.000000 0.000000 0.000000 0.001400 0.002526 0.021950 0.001861 0.000000 0.000000 0.000307 0.000327 0.000000 0.001231 0.021950 436 353 46 0 0 7 24 0 6 172632 16082 24716 8542 11660 22778 73310 10668 4876 0.000243 0.002612 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 21 21 0 0 0 0 0 0 0 394 311 46 0 0 7 24 0 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3181 1353 4534 1 31 32 0.000314268 0.0223988 0.00700832 0.000314268 0.0223988 0.00700832 186 transversion G C G>C 0.000 -2.135 M Met ATG 1.000 I Ile ATC 0.481 1699 12 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Not scored 0.0 0.0 good 8.007E-1 0.5544 212 PASS 0.02 0.0037 . . . 0.019 0.0052 0.0014 . . . . MUC12:uc003uxo.3:exon2:c.G5097C:p.M1699I MUC12:NM_001164462:exon2:c.G5097C:p.M1699I . . 0.19130434 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.018 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M1699I|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) 0.022 0.007 0.0003 0.022 0.007 0.0003 . -1.4412 -1.638 -1.441 c . . . . . 2.157e-03 . . . 0.0237 0.0029 0.0026 0 0 0.0002 0.0054 0.0003 0.0235 0.0025 0.0034 0 0 0.0002 0.0054 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.099 . . exonic exonic exonic . . 0.082 0.0052 . . . 0.37 0.23 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.067 . 43 0.000661783 64976 18 0.00030007 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.018 . . 0.341 . . . 0.019 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.098 . . . . . . . 0.101 . HET . rs116336397 . . . . . . . 0.003663003663003663 0.016260162601626018 0.0 0.0 0.0 . 0.019943 . 0.742 -1.48 . 0.200000 . . . . 0.007008 . 0.010 . . . 0.0235 0.0018 0.0018 0 0 0 0.0003 0.0015 0.0003 0.0205 0.0059 0.0048 0 0 0 0.0003 0 . . 0.283 . -2.160 -2.160000 . . 0.200000 . . 1.0E-212 0.000 0.063 . 0.016 0.156 . 0.001 . 0.001 -2.160 0.060 0.022 . . rs116336397 rs116336397 1 1538 10 1/0 0,228,255 +rs200508701 7 100640450 T C - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution synonymous exon GRCh37 100640450 100640450 Chr7(GRCh37):g.100640450T>C 6606 6606 NM_001164462.1:c.6606T>C p.Ser2202= p.Ser2202Ser 2 604609 6539 3' 81.5559 6.65393 0.736943 3.06624 81.5559 6.65393 0.736943 3.06624 0 rs200508701 yes no Frequency 1 0.000000 0 0.001006 0.022727 0.000000 0.000000 0.010204 0.000728 0.000512 0.000000 0.000000 0.022727 16 9 0 0 1 1 5 0 0 15906 396 1328 614 98 1374 9758 1924 414 0.000126 0.005051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 14 7 0 0 1 1 5 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -1.893 S Ser AGT 0.149 S Ser AGC 0.243 2202 255 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.T6606C:p.S2202S MUC12:NM_001164462:exon2:c.T6606C:p.S2202S . . 0.38392857 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 224.0 . . SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S2202|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -0.7258 . . . . . . . . 8.529e-03 . . . 0 0 0 . 0 0 0 0 0 0 0 . 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.39 182 ENSG00000205277 MUC12 MUC12 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200508701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0271 0.0011 0 0 0.0104 0 0.0005 0 0.0007 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs57220743 rs57220743 rs57220743 rs200508701 1 1538 10 1/0 0,218,255 +rs145380029 7 100645781 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution synonymous exon GRCh37 100645781 100645781 Chr7(GRCh37):g.100645781G>A 11937 11937 NM_001164462.1:c.11937G>A p.Ala3979= p.Ala3979Ala 2 604609 -3020 5' 71.8032 9.04236 0.713884 3.76648 71.8032 9.04236 0.713884 3.76648 0 rs145380029 no no 0 G 0.000000 0 0.001417 0.008119 0.000285 0.000235 0.000432 0.000044 0.000611 0.005144 0.002108 0.008119 239 118 7 2 5 1 44 52 10 168688 14534 24540 8510 11566 22726 71960 10108 4744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 239 118 7 2 5 1 44 52 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.125 A Ala GCG 0.107 A Ala GCA 0.226 3979 192 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.G11937A:p.A3979A MUC12:NM_001164462:exon2:c.G11937A:p.A3979A . . 0.13958333 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 480.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A3979|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -0.2858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.38 182 ENSG00000205277 MUC12 MUC12 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs145380029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.208e-05 0 0 0 0 8.498e-05 0 4.4e-05 0.0173 0.0089 0.0105 0.0079 0.0033 0.0178 0.0030 0.0120 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs145380029 rs145380029 1 1538 10 1/0 0,162,255 +rs773508376 7 100646235 G A - MUC12 7510 Mucin 12, cell surface associated NM_001164462.1 1 16321 16008 NP_001157934.1 substitution missense exon GRCh37 100646235 100646235 Chr7(GRCh37):g.100646235G>A 12391 12391 NM_001164462.1:c.12391G>A p.Glu4131Lys p.Glu4131Lys 2 604609 -2566 5' 71.8032 9.04236 0.713884 3.76648 71.8032 9.04236 0.713884 3.76648 0 rs773508376 yes no Frequency 1 G 0.000000 0 0.001471 0.007739 0.000225 0.000324 0.000400 0.000057 0.001610 0.000900 0.001949 0.007739 186 81 5 2 4 1 80 6 7 126446 10466 22190 6174 9998 17678 49678 6670 3592 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 81 5 2 4 1 80 6 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.012 0.528 E Glu GAA 0.417 K Lys AAA 0.425 4131 12 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Not scored 0.0 0.0 good 5.125E-1 0.4602 183 PASS . . . . . . . . . . . . MUC12:uc003uxo.3:exon2:c.G12391A:p.E4131K MUC12:NM_001164462:exon2:c.G12391A:p.E4131K . . 0.11969112 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.137 . @ . . . . . 1 0.045 . . 259.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4131K|MUC12|mRNA|CODING|NM_001164462|NM_001164462.ex.2) . . . . . . . -0.9836 -1.143 -0.984 c . . . . . 2.845e-04 . . . 0 0.0002 0 0 0 0.0006 0 0 0 0.0001 0 0 0 0.0005 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.162 @ . . . 0.31 0.3 182 ENSG00000205277 MUC12 MUC12 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.234 0.009 . . 37 . 0.059 . . 0.437 . . . 0.159 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . . . 0.088 . LowAF . rs773508376 . . . . . . . . . . . . . . . 0.53 0.53 . 0.600000 . . . . . . 0.031 . . . 0.0002 0.0002 0.0002 0 0.0002 0 0.0002 0 5.657e-05 0.0156 0.0092 0.0015 0.0115 0.0019 0.0029 0.0081 0.0126 . . 0.246 . 0.519 0.519000 . . 0.600000 . . 1.0E-183 0.000 0.063 . 0.043 0.105 . 0.036 . 0.067 0.519 0.427 . . . rs71256206 rs71256206 1 1538 10 1/0 0,187,255 +rs767639608 7 100678112 A C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100678112 100678112 Chr7(GRCh37):g.100678112A>C 3415 3415 NM_001040105.1:c.3415A>C p.Ser1139Arg p.Ser1139Arg 3 608424 3231 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100678110 2.82224 0.003155 72.7804 3.25576 0.005769 72.7804 rs767639608 yes no Frequency 1 A 0.000000 0 0.000147 0.000435 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 0.000435 4 3 0 0 0 0 1 0 0 27154 6904 768 274 1418 0 13736 3178 876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 61 Genomes transversion A C A>C 0.000 -0.279 S Ser AGT 0.149 R Arg CGT 0.082 1139 11 3 Cat -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0.01 II.99 bad 9.392E-3 0.02503 175 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.A3415C:p.S1139R MUC17:NM_001040105:exon3:c.A3415C:p.S1139R . . 0.11464968 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.026 . . 471.0 . . . . . . . . . . -1.3599 -1.540 -1.360 c . . . . . 1.894e-04 . . . 0.0011 0.0001 0 0 0 0 0 0.0001 0.0012 0.0002 0 0.0001 0 3.681e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.074 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.001 0.075 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.015 . . 0.448 . . . 0.275 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.152 . . 0 0 0 0 0 0 . 0.428 . . 0.340 . . . . . . 0 0.213 . . . . . 0.052 . 0.123 . LowAF 0.1 rs767639608 . . . . . . . . . . . . II.73 . ENST00000306151 0.899 -1.8 . 0.490000 Q685J3 . . . . . 0.041 . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 7.28e-05 0 . . 0.203 . -0.692 -0.692000 . . 0.490000 . . 1.0E-175 0.000 0.063 . 0.016 0.000 . 0.238 . 0.131 -0.692 -0.150 . . . . . 1 1538 10 1/0 0,161,255 +rs201692386 7 100679175 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679175 100679175 Chr7(GRCh37):g.100679175G>C 4478 4478 NM_001040105.1:c.4478G>C p.Ser1493Thr p.Ser1493Thr 3 608424 4294 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs201692386 yes no Frequency 1 G 0.000000 0 0.000268 0.001875 0.000059 0.000000 0.000433 0.000000 0.000121 0.000238 0.000161 0.001875 72 40 2 0 8 0 15 6 1 268640 21338 34118 9806 18464 29938 123562 25202 6212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 40 2 0 8 0 15 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5752916 Pancreas 0.000569 1758 transversion G C G>C 0.000 -0.763 S Ser AGT 0.149 T Thr ACT 0.243 1493 11 4 Cat 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Deleterious 0 II.99 unknown 0.0 0.0 186 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G4478C:p.S1493T MUC17:NM_001040105:exon3:c.G4478C:p.S1493T . . 0.12585033 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.002 . . 294.0 . . . . . . . . . . -1.4230 -1.546 -1.423 c . . . . . 7.906e-06 . . . 0 1.144e-05 0 0 0 2.421e-05 0 0 0 9.716e-06 0 0 0 1.868e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.077 @ . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.000 0.059 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.018 . . 0.483 . . . 0.396 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.211 . . 0.112 . . . . . . 0 0.134 . . . . . 0.026 . 0.064 . LowAF 0.28 rs201692386 0.065 0.087 . . . . . . . . . . I.83 . ENST00000306151 0.838 -1.68 . 0.710000 Q685J3 . . . . . 0.015 . . . 0 4.115e-06 2.998e-05 0 0 0 0 0 0 0.0066 0.0028 0.0013 0 0.0063 0.0019 0.0011 0.0012 . . 0.185 . -0.644 -0.644000 . . 0.710000 . . 1.0E-186 0.000 0.063 . 0.062 0.003 . 0.041 . 0.282 -0.644 0.373 0.065 . . rs201692386 rs201692386 1 1538 10 1/0 0,182,255 +rs753886175 7 100679184 C T - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679184 100679184 Chr7(GRCh37):g.100679184C>T 4487 4487 NM_001040105.1:c.4487C>T p.Pro1496Leu p.Pro1496Leu 3 608424 4303 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100679199 2.68091 0.261071 71.5246 3.43131 0.361068 71.5246 rs753886175 yes no Frequency 1 C 0.000000 0 0.000356 0.002736 0.000029 0.000000 0.000434 0.000000 0.000137 0.000356 0.000480 0.002736 96 58 1 0 8 0 17 9 3 269814 21200 34212 9988 18440 30354 124100 25274 6246 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 96 58 1 0 8 0 17 9 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5766442 Large intestine 0.000417 2398 transition C T C>T 0.000 0.286 P Pro CCT 0.283 L Leu CTT 0.129 1496 11 2 Dog -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 0.52 II.99 unknown 0.0 0.0 201 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.C4487T:p.P1496L MUC17:NM_001040105:exon3:c.C4487T:p.P1496L . . 0.16025642 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.120 . @ . . . . . 1 0.012 . . 312.0 . . . . . . . . . . -0.9922 -1.120 -0.992 c . . . . . 1.580e-05 . . . 9.671e-05 2.263e-05 0 0 0 2.409e-05 0 0 0.0001 1.926e-05 0 0 0 1.861e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.033 . . exonic exonic exonic . . 0.185 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.024 . . 0.459 . . . 0.387 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.334 . . 0.193 . . . . . . 0 0.377 . . . . . 0.152 . 0.106 . HET 0.02 rs753886175 . . . . . . . . . . . . V.68 . ENST00000306151 0.932 0.932 . 0.370000 Q685J3 . . . . . 0.056 . . . 0 8.178e-06 0 0 0 0 9.014e-06 0.0002 0 0.0098 0.0037 0.0013 0 0.0065 0.0029 0.0012 0.0025 . . 0.185 . 0.857 0.857000 . . 0.370000 . . 1.0E-201 0.003 0.159 . 0.043 0.006 . 0.390 . 0.292 0.857 0.545 . . . . . 1 1538 10 1/0 0,182,255 +rs778609388 7 100679192 G A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679192 100679192 Chr7(GRCh37):g.100679192G>A 4495 4495 NM_001040105.1:c.4495G>A p.Ala1499Thr p.Ala1499Thr 3 608424 4311 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Weakly Activated 100679199 2.68091 0.261071 71.5246 3.88171 0.285045 71.6437 rs778609388 yes no Frequency 1 G 0.000000 0 0.000511 0.003940 0.000029 0.000000 0.000650 0.000000 0.000201 0.000513 0.000641 0.003940 138 83 1 0 12 0 25 13 4 270080 21066 34230 10026 18448 30550 124184 25340 6236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 138 83 1 0 12 0 25 13 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5766415 Large intestine 0.000417 2398 transition G A G>A 0.004 -1.167 A Ala GCT 0.263 T Thr ACT 0.243 1499 11 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 1 II.99 unknown 0.0 0.0 201 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G4495A:p.A1499T MUC17:NM_001040105:exon3:c.G4495A:p.A1499T . . 0.16037735 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.012 . . 318.0 . . . . . . . . . . -1.9312 -2.013 -1.931 c . . . . . 2.369e-05 . . . 9.653e-05 2.248e-05 0 0 0 2.402e-05 0 0 0.0001 2.872e-05 0 0 0 3.713e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.078 @ . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.000 0.067 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.014 . . 0.479 . . . 0.281 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.092 . . 0 0 0 0 0 0 . 0.233 . . 0.139 . . . . . . 0 0.052 . . . . . 0.201 . 0.010 . HET 0.48 rs778609388 . . . . . . . . . . . . VI.63 . ENST00000306151 0.834 -1.67 . 0.710000 Q685J3 . . . . . 0.005 . . . 0 0 0 0 0 0 0 0 0 0.0144 0.0055 0.0014 0 0.0099 0.0042 0.0019 0.0051 . . 0.185 . -1.284 -1.284000 . . 0.710000 . . 1.0E-201 0.000 0.063 . 0.016 0.002 . 0.001 . 0.001 -1.284 -0.498 . . . rs200131573 rs200131573 1 1538 10 1/0 0,182,255 +rs757294503 7 100679235 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679235 100679235 Chr7(GRCh37):g.100679235G>C 4538 4538 NM_001040105.1:c.4538G>C p.Ser1513Thr p.Ser1513Thr 3 608424 4354 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs757294503 yes no Frequency 1 G 0.000000 0 transversion G C G>C 0.000 -0.521 S Ser AGC 0.243 T Thr ACC 0.361 1513 11 1 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 1 III.35 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G4538C:p.S1513T MUC17:NM_001040105:exon3:c.G4538C:p.S1513T . . 0.11904762 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.001 . . 336.0 . . . . . . . . . . -1.7400 -1.838 -1.740 c . . . . . 7.893e-06 . . . 0 1.107e-05 0 0 0 0 0 6.152e-05 0 9.453e-06 0 0 0 0 0 6.187e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.020 . . exonic exonic exonic . . 0.073 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.021 0.001 . . 37 . 0.015 . . 0.484 . . . 0.288 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 0 0.341 . . . . . 0.057 . 0.025 . LowAF 0.13 rs757294503 . . . . . . . . . . . . 3.0332 . ENST00000306151 0.922 -1.84 . 0.540000 Q685J3 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.185 . -0.636 -0.636000 . . 0.540000 . . 1.0E-183 0.000 0.063 . 0.016 0.000 . 0.048 . 0.027 -0.636 -2.345 . . . . . 1 1538 10 1/0 0,175,255 +rs571363585 7 100679236 C A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679236 100679236 Chr7(GRCh37):g.100679236C>A 4539 4539 NM_001040105.1:c.4539C>A p.Ser1513Arg p.Ser1513Arg 3 608424 4355 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs571363585 yes no Frequency/1000G 2 T 0.000200 A 1 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 271204 21238 34294 10082 18438 30722 124716 25428 6286 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -2.458 S Ser AGC 0.243 R Arg AGA 0.205 1513 11 1 -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0.03 III.35 unknown 0.0 0.0 187 PASS . . . . . . 0.0002 . . . 0.001 . MUC17:uc003uxp.1:exon3:c.C4539A:p.S1513R MUC17:NM_001040105:exon3:c.C4539A:p.S1513R . . 0.12716763 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.002 . . 346.0 . . . . . . . . . . -1.5654 -1.752 -1.565 c . . . . . 1.579e-05 . . . 0 2.215e-05 0 0 0 0 0 0.0001 0 1.891e-05 0 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.017 . . exonic exonic exonic . . 0.073 0.0002 . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.009 0.117 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.009 . . 0.419 . . . 0.627 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.428 . . 0.286 . . . . . . 0 0.721 . . . . . 0.036 . 0.097 . LowAF 0 rs571363585 . . . . . . . . . . . . 2.1702 . ENST00000306151 0.922 -1.84 . 0.250000 Q685J3 . . . . . 0.031 . . . 0 4.068e-06 0 0 0 0 0 0 3.255e-05 0 0 0 0 0 0 0 0 . . 0.185 . -2.410 -2.410000 . . 0.250000 . . 1.0E-187 0.000 0.063 . 0.016 0.001 . 0.051 . 0.019 -2.410 -1.302 . . . . . 1 1538 10 1/0 0,175,255 +. 7 100679237 A C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679237 100679237 Chr7(GRCh37):g.100679237A>C 4540 4540 NM_001040105.1:c.4540A>C p.Thr1514Pro p.Thr1514Pro 3 608424 4356 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25384 6064 732 268 1228 0 13108 3164 820 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 56 Genomes transversion A C A>C 0.000 -1.167 T Thr ACT 0.243 P Pro CCT 0.283 1514 11 1 -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.23 III.35 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.A4540C:p.T1514P MUC17:NM_001040105:exon3:c.A4540C:p.T1514P . . 0.11898017 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.002 . . 353.0 . . . . . . . . . . -1.2204 -1.390 -1.220 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.073 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.002 0.087 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.015 . . 0.440 . . . 0.419 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.315 . . 0.181 . . . . . . 0 0.379 . . . . . 0.024 . 0.134 . LowAF 0.01 . . . . . . . . . . . . . I.49 . ENST00000306151 0.922 -1.84 . 0.220000 Q685J3 . . . . . 0.026 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.185 . -1.137 -1.137000 . . 0.220000 . . 1.0E-183 0.000 0.063 . 0.016 0.002 . 0.028 . 0.130 -1.137 0.656 . . . . . 1 1538 10 1/0 0,173,255 +. 7 100679323 C G - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679323 100679323 Chr7(GRCh37):g.100679323C>G 4626 4626 NM_001040105.1:c.4626C>G p.Ser1542Arg p.Ser1542Arg 3 608424 4442 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100679323 5.28484 0.02928 75.125 8.09288 0.439042 80.8834 0.004798 0.010589 0.002674 0.000000 0.016535 0.000000 0.002155 0.000607 0.003371 0.016535 131 73 2 0 21 0 30 2 3 27302 6894 748 282 1270 0 13922 3296 890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 73 2 0 21 0 30 2 3 0 0 0 0 0 0 0 0 0 RF 56 Genomes transversion C G C>G 0.000 -0.602 S Ser AGC 0.243 R Arg AGG 0.207 1542 11 2 Olive baboon -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Tolerated 0.3 II.99 unknown 0.0 0.0 197 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.C4626G:p.S1542R MUC17:NM_001040105:exon3:c.C4626G:p.S1542R . . 0.1509009 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.015 . . 444.0 . . . . . . . . . . -0.9801 -1.210 -0.980 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.020 . . exonic exonic exonic . . 0.073 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.001 0.077 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . 0.015 . . 0.472 . . . 0.387 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.206 . . 0 0 0 0 0 0 . 0.475 . . 0.340 . . . . . . 0 0.341 . . . . . 0.126 . 0.130 . HET 0.01 . . . . . . . . . . . . . IV.01 . ENST00000306151 0.922 -1.84 . 0.200000 Q685J3 . . . . . 0.073 . . . . . . . . . . . . 0.0106 0.0048 0.0027 0 0.0165 0.0006 0.0022 0.0034 . . 0.185 . -0.676 -0.676000 . . 0.200000 . . 1.0E-197 0.000 0.063 . 0.016 0.001 . 0.035 . 0.027 -0.676 0.545 . . . . . 1 1538 10 1/0 0,166,255 +. 7 100679327 C G - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679327 100679327 Chr7(GRCh37):g.100679327C>G 4630 4630 NM_001040105.1:c.4630C>G p.Pro1544Ala p.Pro1544Ala 3 608424 4446 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 0.004420 0.009658 0.002674 0.000000 0.015898 0.000000 0.002093 0.000304 0.002262 0.015898 120 66 2 0 20 0 29 1 2 27150 6834 748 282 1258 0 13856 3288 884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 66 2 0 20 0 29 1 2 0 0 0 0 0 0 0 0 0 RF 57 Genomes transversion C G C>G 0.000 -3.588 P Pro CCT 0.283 A Ala GCT 0.263 1544 11 2 Olive baboon -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 353.86 0.00 Tolerated 0.15 II.99 unknown 0.0 0.0 196 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.C4630G:p.P1544A MUC17:NM_001040105:exon3:c.C4630G:p.P1544A . . 0.14874142 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.003 . . 437.0 . . . . . . . . . . -1.9426 -2.132 -1.943 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.051 . . exonic exonic exonic . . 0.073 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.843 0.249 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.023 . . 0.409 . . . 0.315 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.249 . . 0 0 0 0 0 0 . 0.424 . . 0.315 . . . . . . 0 0.129 . . . . . 0.005 . 0.089 . LowAF . . . . . . . . . . . . . . 0.4613 . ENST00000306151 0.922 -1.84 . 0.780000 Q685J3 . . . . . 0.022 . . . . . . . . . . . . 0.0097 0.0044 0.0027 0 0.0159 0.0003 0.0021 0.0023 . . 0.185 . -3.495 -3.495000 . . 0.780000 . . 1.0E-196 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 -3.495 -3.100 . . . . . 1 1538 10 1/0 0,167,255 +rs758989741 7 100679342 T C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679342 100679342 Chr7(GRCh37):g.100679342T>C 4645 4645 NM_001040105.1:c.4645T>C p.Ser1549Pro p.Ser1549Pro 3 608424 4461 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs758989741 yes no Frequency 1 A 0.000000 0 0.003505 0.007622 0.002674 0.000000 0.013710 0.000000 0.001548 0.000307 0.002278 0.013710 93 50 2 0 17 0 21 1 2 26530 6560 748 278 1240 0 13566 3260 878 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 50 2 0 17 0 21 1 2 0 0 0 0 0 0 0 0 0 RF 58 Genomes COSM5764087 Large intestine 0.000834 2398 transition T C T>C 0.000 -1.732 S Ser TCT 0.185 P Pro CCT 0.283 1549 11 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.07 II.99 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.T4645C:p.S1549P MUC17:NM_001040105:exon3:c.T4645C:p.S1549P . . 0.13181818 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.053 . @ . . . . . 1 0.026 . . 440.0 . . . . . . . . . . -2.0571 -2.127 -2.057 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.024 . . exonic exonic exonic . . 0.108 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.004 0.103 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.015 . . 0.465 . . . 0.124 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.208 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.274 . . . . . 0.033 . 0.071 . LowAF . . . . . . . . . . . . . . 2.0308 . ENST00000306151 0.922 -0.648 . 0.360000 Q685J3 . . . . . 0.019 . . . . . . . . . . . . 0.0076 0.0035 0.0027 0 0.0137 0.0003 0.0015 0.0023 . . 0.185 . -1.964 -1.964000 . . 0.360000 . . 1.0E-183 0.000 0.063 . 0.016 0.000 . 0.001 . 0.006 -1.964 -2.909 . . . . . 1 1538 10 1/0 0,165,255 +rs796404358 7 100679357 T A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100679357 100679357 Chr7(GRCh37):g.100679357T>A 4660 4660 NM_001040105.1:c.4660T>A p.Ser1554Thr p.Ser1554Thr 3 608424 4476 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs796404358 no no 0 T 0.000000 0 0.001683 0.003471 0.002611 0.000000 0.006088 0.000000 0.000638 0.000301 0.002169 0.006088 47 25 2 0 8 0 9 1 2 27920 7202 766 284 1314 0 14106 3326 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 25 2 0 8 0 9 1 2 0 0 0 0 0 0 0 0 0 RF 55 Genomes COSM5766463 Large intestine 0.000417 2398 transversion T A T>A 0.083 1.255 S Ser TCT 0.185 T Thr ACT 0.243 1554 11 4 Cat 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Deleterious 0 II.99 unknown 0.0 0.0 183 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.T4660A:p.S1554T MUC17:NM_001040105:exon3:c.T4660A:p.S1554T . . 0.11954023 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.002 . . 435.0 . . . . . . . . . . -1.0169 -1.178 -1.017 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.185 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.014 . . 0.226 . . . 0.360 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.069 . . 0 0 0 0 0 0 . 0.475 . . 0.315 . . . . . . 0 0.306 . . . . . 0.098 . 0.111 . LowAF . . . . . . . . . . . . . . IV.35 . ENST00000306151 0.922 0.922 . 1.000000 Q685J3 . . . . . 0.041 . . . . . . . . . . . . 0.0035 0.0017 0.0026 0 0.0061 0.0003 0.0006 0.0022 . . 0.185 . 0.707 0.707000 . . 1.000000 . . 1.0E-183 0.000 0.063 . 0.016 0.003 . 0.035 . 0.104 0.707 0.614 . . . . . 1 1538 10 1/0 0,164,255 +rs139561019 7 100680234 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680234 100680234 Chr7(GRCh37):g.100680234G>C 5537 5537 NM_001040105.1:c.5537G>C p.Ser1846Thr p.Ser1846Thr 3 608424 5353 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs139561019 yes no Frequency/1000G 2 0.000000 0 0.003619 0.009004 0.001355 0.000000 0.010340 0.000000 0.000739 0.003213 0.001179 0.010340 96 60 1 0 14 0 10 10 1 26526 6664 738 274 1354 0 13536 3112 848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 96 60 1 0 14 0 10 10 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes transversion G C G>C 0.000 -0.440 S Ser AGT 0.149 T Thr ACT 0.243 1846 11 2 Olive baboon 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 0.56 II.94 bad 2.152E-3 9.72E-5 193 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G5537C:p.S1846T MUC17:NM_001040105:exon3:c.G5537C:p.S1846T . . 0.14114115 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.001 . . 333.0 . . . . . . . . . . -1.4707 -1.581 -1.471 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.098 0.0008 . . . 0.3 0.38 182 ENSG00000169876 MUC17 MUC17 . . . 0.001 0.073 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.037 0.002 . . 37 . 0.018 . . 0.488 . . . 0.396 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.127 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 0 0.124 . . . . . . . 0.040 . LowAF . rs139561019 0.043 0.036 . . . . . . . . . . . . ENST00000306151 0.471 -0.942 . 0.650000 Q685J3 . . . . . 0.004 . . . . . . . . . . . . 0.0090 0.0036 0.0014 0 0.0103 0.0032 0.0007 0.0012 . . 0.133 . -0.559 -0.559000 . . 0.650000 . . 1.0E-193 0.000 0.063 . 0.016 0.003 . 0.057 . 0.013 -0.559 -1.464 0.043 . . rs139561019 rs139561019 1 1538 10 1/0 0,178,255 +rs202220584 7 100680243 C T - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680243 100680243 Chr7(GRCh37):g.100680243C>T 5546 5546 NM_001040105.1:c.5546C>T p.Pro1849Leu p.Pro1849Leu 3 608424 5362 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100680258 2.68091 0.42172 71.5246 3.43131 0.546058 71.5246 rs202220584 yes no Frequency 1 0.000000 0 0.004662 0.011474 0.001359 0.000000 0.011834 0.000000 0.001242 0.003856 0.001166 0.011834 125 78 1 0 16 0 17 12 1 26812 6798 736 272 1352 0 13684 3112 858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 78 1 0 16 0 17 12 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes COSM1446756 Upper aerodigestive tract 0.000803 1245 transition C T C>T 0.083 2.385 P Pro CCT 0.283 L Leu CTT 0.129 1849 11 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 0.12 II.94 bad 4.136E-5 0.0002166 196 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.C5546T:p.P1849L MUC17:NM_001040105:exon3:c.C5546T:p.P1849L . . 0.14836796 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.323 . @ . . . . . 1 0.014 . . 337.0 . . . . . . . . . . -0.8456 -1.012 -0.846 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.033 . . exonic exonic exonic . . 0.179 @ . . . 0.25 0.36 182 ENSG00000169876 MUC17 MUC17 . . . 0.027 0.138 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.020 . . 0.497 . . . 0.715 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.238 . . 0 0 0 0 0 0 . 0.475 . . 0.315 . . . . . . 0 0.308 . . . . . 0.272 . 0.036 . LowAF . rs202220584 . . . . . . ID\x3dCOSM1446756\x3bOCCURENCE\x3d1(large_intestine) . . . . . VII.57 . ENST00000306151 0.824 0.824 . 0.390000 Q685J3 . . . . . 0.063 . . . . . . . . . . . . 0.0115 0.0047 0.0014 0 0.0118 0.0039 0.0012 0.0012 . . 0.133 . 0.788 0.788000 . . 0.390000 . . 1.0E-196 0.000 0.063 . 0.016 0.008 . 0.097 . 0.068 0.788 0.143 . . . rs202220584 rs202220584 1 1538 10 1/0 0,178,255 +rs79565573 7 100680251 G A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680251 100680251 Chr7(GRCh37):g.100680251G>A 5554 5554 NM_001040105.1:c.5554G>A p.Ala1852Thr p.Ala1852Thr 3 608424 5370 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Acceptor Strongly Activated 100680258 2.68091 0.42172 71.5246 3.88171 0.470103 71.6437 rs79565573 yes no Frequency 1 0.000000 0 0.005194 0.012409 0.002710 0.000000 0.011416 0.000000 0.001185 0.005825 0.004640 0.012409 137 82 2 0 15 0 16 18 4 26378 6608 738 268 1314 0 13498 3090 862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 137 82 2 0 15 0 16 18 4 0 0 0 0 0 0 0 0 0 RF 54 Genomes 8600 4387 12987 0 19 19 0 0.0043123 0.00146086 0 0.0043123 0.00146086 200 COSM5766901 Large intestine 0.000417 2398 transition G A G>A 0.138 -0.440 A Ala GCT 0.263 T Thr ACT 0.243 1852 11 2 Olive baboon 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.12 II.94 bad 1.194E-5 2.111E-5 199 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G5554A:p.A1852T MUC17:NM_001040105:exon3:c.G5554A:p.A1852T . . 0.15497077 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.212 . @ . . . . . 1 0.012 . . 342.0 . . . 0.0043 0.0015 . 0.0043 0.0015 . . -1.4004 -1.483 -1.400 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.119 @ . . . 0.29 0.3 182 ENSG00000169876 MUC17 MUC17 . . . 0.000 0.070 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.014 . . 0.465 . . . 0.622 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.059 . . 0 0 0 0 0 0 . 0.245 . . 0.154 . . . . . . 0 0.043 . . . . . 0.031 . 0.010 . HET . rs79565573 . 0.007 . . . . . . . . . . I.24 0.001873 ENST00000306151 0.824 -0.353 . 0.810000 Q685J3 . . . 0.001461 . 0.003 . . . . . . . . . . . . 0.0124 0.0052 0.0027 0 0.0114 0.0058 0.0012 0.0046 . . 0.133 . -0.086 -0.086000 . . 0.810000 . . 1.0E-199 0.000 0.063 . 0.016 0.003 . 0.144 . 0.001 -0.086 0.373 0.0043 . . rs79565573 rs200131573 1 1538 10 1/0 0,178,255 +rs200081448 7 100680294 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680294 100680294 Chr7(GRCh37):g.100680294G>C 5597 5597 NM_001040105.1:c.5597G>C p.Ser1866Thr p.Ser1866Thr 3 608424 5413 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs200081448 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003000 0.010200 0.002000 0.000000 0.000000 COSM4592783|COSM4592783 Upper aerodigestive tract|Large intestine 0.001606|0.000417 1245|2398 transversion G C G>C 0.000 -1.167 S Ser AGC 0.243 T Thr ACC 0.361 1866 11 4 Cat 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 0.09 II.94 unknown 0.0 0.0 190 PASS . . . . . 0.003 0.0032 . 0.002 . 0.01 . MUC17:uc003uxp.1:exon3:c.G5597C:p.S1866T MUC17:NM_001040105:exon3:c.G5597C:p.S1866T . . 0.13506493 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.001 . . 385.0 . . . . . . . . . . -1.4674 -1.594 -1.467 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . 0.078 0.0032 . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.019 . . 0.487 . . . 0.409 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.131 . . 0.080 . . . . . . 0 0.277 . . . . . 0.049 . 0.059 . LowAF . rs200081448 . . . . . . . . . . . . II.96 . ENST00000306151 0.824 -1.65 . 0.630000 Q685J3 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.237 -1.237000 . . 0.630000 . . 1.0E-190 0.000 0.063 . 0.074 0.005 . 0.043 . 0.272 -1.237 0.150 . . . rs200081448 rs200081448 1 1538 10 1/0 0,171,255 +rs201207919 7 100680295 C A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680295 100680295 Chr7(GRCh37):g.100680295C>A 5598 5598 NM_001040105.1:c.5598C>A p.Ser1866Arg p.Ser1866Arg 3 608424 5414 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs201207919 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003000 0.010200 0.002000 0.000000 0.000000 COSM4592451|COSM4592451 Upper aerodigestive tract|Large intestine 0.001606|0.000417 1245|2398 transversion C A C>A 0.000 -4.234 S Ser AGC 0.243 R Arg AGA 0.205 1866 11 4 Cat -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0.02 II.94 unknown 0.0 0.0 188 PASS . . . . . 0.003 0.0032 . 0.002 . 0.01 . MUC17:uc003uxp.1:exon3:c.C5598A:p.S1866R MUC17:NM_001040105:exon3:c.C5598A:p.S1866R . . 0.13098237 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.001 . . 397.0 . . . . . . . . . . -2.0814 -2.261 -2.081 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.078 0.0449 . . . 0.3 0.35 182 ENSG00000169876 MUC17 MUC17 . . . 0.994 0.334 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.013 . . 0.377 . . . 0.656 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.428 . . 0.286 . . . . . . 0 0.599 . . . . . 0.002 . 0.100 . LowAF . rs201207919 . . . . . . . . . . . . 0.2913 . ENST00000306151 0.824 -1.65 . 0.350000 Q685J3 . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -4.132 -4.132000 . . 0.350000 . . 1.0E-188 0.000 0.063 . 0.043 0.004 . 0.002 . 0.005 -4.132 -2.107 . . . rs201207919 rs201207919 1 1538 10 1/0 0,170,255 +rs201970250 7 100680296 A C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680296 100680296 Chr7(GRCh37):g.100680296A>C 5599 5599 NM_001040105.1:c.5599A>C p.Thr1867Pro p.Thr1867Pro 3 608424 5415 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs201970250 yes no Frequency/1000G 2 0.000000 0 0.048123 0.044600 0.101200 0.076400 0.003000 0.004300 0.001617 0.002652 0.001889 0.000000 0.010477 0.003938 0.000024 0.000040 0.001909 0.010477 435 58 64 0 182 115 3 1 12 269040 21872 33874 10090 17372 29202 125358 24986 6286 0.000015 0.000000 0.000000 0.000000 0.000115 0.000068 0.000000 0.000000 0.000000 2 0 0 0 1 1 0 0 0 429 57 64 0 179 113 3 1 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4592165|COSM4592165 Upper aerodigestive tract|Large intestine 0.001606|0.000417 1245|2398 transversion A C A>C 0.106 0.044 T Thr ACT 0.243 P Pro CCT 0.283 1867 11 3 Frog -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.1 II.94 unknown 0.0 0.0 184 PASS . . . . . 0.045 0.048 0.0043 0.076 0.003 0.1 . MUC17:uc003uxp.1:exon3:c.A5599C:p.T1867P MUC17:NM_001040105:exon3:c.A5599C:p.T1867P . . 0.12176166 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.133 . @ . . . . . 1 0.003 . . 386.0 . . . . . . . . . . -0.7792 -1.029 -0.779 c . . . . . 5.266e-03 . . . 0.0088 0.0060 0.0080 0.0296 0.0032 0.0003 0.0043 0.0112 0.0073 0.0051 0.0079 0.0234 0.0021 0.0004 0.0058 0.0111 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.092 0.0481 . . . 0.31 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.000 0.071 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.025 . . 0.445 . . . 0.715 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.592 . . 0.436 . . . . . . 0 0.183 . . . . . 0.084 . 0.239 . LowAF . rs201970250 . . . . . . . . . . . . III.78 . ENST00000306151 0.824 -1.13 . 0.150000 Q685J3 . . . . . 0.051 . . . 0.0035 0.0018 0.0019 0 0.0111 4.579e-05 1.796e-05 0.0022 0.0039 0.0007 0.0003 0 0 0.0024 0 7.154e-05 0 . . 0.133 . -0.266 -0.266000 . . 0.150000 . . 9.999999999999999E-185 0.002 0.151 . 0.043 0.004 . 0.235 . 0.286 -0.266 0.423 . . . rs201970250 rs201970250 1 1538 10 1/0 0,170,255 +rs111850657 7 100680299 G C - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680299 100680299 Chr7(GRCh37):g.100680299G>C 5602 5602 NM_001040105.1:c.5602G>C p.Ala1868Pro p.Ala1868Pro 3 608424 5418 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs111850657 yes no Frequency/1000G 2 0.000000 0 0.048123 0.044600 0.101200 0.076400 0.003000 0.004300 0.002092 0.006154 0.002027 0.000000 0.011784 0.003745 0.000128 0.000680 0.002086 0.011784 559 132 68 0 204 109 16 17 13 267238 21448 33548 10052 17312 29106 124550 24990 6232 0.000015 0.000093 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 555 130 68 0 204 107 16 17 13 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4592786|COSM4592786|COSM4592786 Upper aerodigestive tract|Large intestine|Bone 0.001606|0.000834|0.001757 1245|2398|569 transversion G C G>C 0.000 -3.023 A Ala GCA 0.226 P Pro CCA 0.274 1868 11 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Tolerated 1 II.94 unknown 0.0 0.0 187 PASS . . . . . 0.045 0.048 0.0043 0.076 0.003 0.1 . MUC17:uc003uxp.1:exon3:c.G5602C:p.A1868P MUC17:NM_001040105:exon3:c.G5602C:p.A1868P . . 0.12787724 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.010 . . 391.0 . . . . . . . . . . -2.1776 -2.263 -2.178 c . . . . . 1.917e-03 . . . 0.0039 0.0019 0.0016 0.0100 0.0013 2.383e-05 0.0028 0.0034 0.0030 0.0014 0.0014 0.0055 0.0008 3.691e-05 0 0.0034 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.028 . . exonic exonic exonic . . 0.078 0.0481 . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.312 0.193 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.012 . . 0.413 . . . 0.001 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.098 . . . . . 0.011 . 0.143 . LowAF . rs111850657 . . . . . . . . . . . . 0.8687 . ENST00000306151 0.824 -1.65 . 0.640000 Q685J3 . . . . . 0.003 . . . 0.0035 0.0018 0.0020 0 0.0115 4.571e-05 1.801e-05 0.0019 0.0037 0.0121 0.0051 0.0041 0 0.0159 0.0051 0.0010 0.0036 . . 0.133 . -3.231 -3.231000 . . 0.640000 . . 1.0E-187 0.000 0.063 . 0.016 0.001 . 0.005 . 0.002 -3.231 -2.786 . . . rs111850657 rs111850657 1 1538 10 1/0 0,170,255 +rs201138200 7 100680313 A G - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680313 100680313 Chr7(GRCh37):g.100680313A>G 5616 5616 NM_001040105.1:c.5616A>G p.Ile1872Met p.Ile1872Met 3 608424 5432 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Donor Strongly Activated 100680308 0.023126 59.7602 V.77 0.346704 71.9117 rs201138200 yes no Frequency/1000G 2 0.000000 0 0.008387 0.006100 0.020400 0.013900 0.000000 0.000000 0.000409 0.003146 0.000029 0.000000 0.000760 0.000000 0.000088 0.000512 0.000317 0.003146 111 70 1 0 14 0 11 13 2 271638 22252 34150 10056 18430 29934 125138 25366 6312 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 70 1 0 14 0 11 13 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8600 4397 12997 0 7 7 0 0.00158946 0.000538296 0 0.00158946 0.000538296 240 COSM4381530|COSM4381530|COSM4381530 Large intestine|Bone|Biliary tract 0.000417|0.001757|0.002717 2398|569|368 transition A G A>G 0.000 -2.619 I Ile ATA 0.163 M Met ATG 1.000 1872 11 1 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Tolerated 0.24 II.94 unknown 0.0 0.0 184 PASS . . . . . 0.0061 0.0084 . 0.014 . 0.02 . MUC17:uc003uxp.1:exon3:c.A5616G:p.I1872M MUC17:NM_001040105:exon3:c.A5616G:p.I1872M . . 0.12128713 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.004 . . 404.0 . . . 0.0016 0.0005 . 0.0016 0.0005 . . -1.6258 -1.839 -1.626 c . . . . . 7.948e-06 . . . 0 1.129e-05 0 0 0 0 0.0014 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.078 0.0084 . . . 0.34 0.36 182 ENSG00000169876 MUC17 MUC17 . . . 0.019 0.131 . 38 0.000584831 64976 2 3.33411e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.014 . . 0.332 . . . 0.092 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.469 . . 0.370 . . . . . . 0 0.118 . . . . . 0.005 . 0.081 . LowAF . rs201138200 . . . . . . . . . . . . 0.5001 . ENST00000306151 0.824 -1.65 . 0.230000 Q685J3 . . . 0.000538 . 0.007 . . . 0 0 0 0 0 0 0 0 0 0.0100 0.0041 0.0013 0 0.0108 0.0041 0.0008 0.0023 . . 0.133 . -2.737 -2.737000 . . 0.230000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.000 . 0.002 . 0.000 -2.737 -2.507 0.0016 . . rs201138200 rs201138200 1 1538 10 1/0 0,168,255 +rs368849364 7 100680463 G T - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680463 100680463 Chr7(GRCh37):g.100680463G>T 5766 5766 NM_001040105.1:c.5766G>T p.Arg1922Ser p.Arg1922Ser 3 608424 5582 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 rs368849364 yes no Frequency/1000G 2 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000008 1 0 0 0 0 0 1 0 0 264050 20952 32538 9974 17826 29398 122120 25230 6012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6212977 Haematopoietic and lymphoid tissue 0.000275 3634 transversion G T G>T 0.000 -2.458 R Arg AGG 0.207 S Ser AGT 0.149 1922 11 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 353.86 0.00 Tolerated 0.54 II.94 bad 1.501E-4 0.0001143 180 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G5766T:p.R1922S MUC17:NM_001040105:exon3:c.G5766T:p.R1922S . . 0.11320755 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.094 . @ . . . . . 1 0.004 . . 318.0 . . . . . . . . . . -2.2977 -2.352 -2.298 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.028 . . exonic exonic exonic . . 0.073 0.0006 . . . 0.33 0.34 182 ENSG00000169876 MUC17 MUC17 . . . 0.011 0.121 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.011 . . 0.387 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.069 . 0.097 . LowAF . . . . . . . . . . . . . . III.94 . ENST00000306151 0.932 -1.86 . 0.890000 Q685J3 . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 0 4.21e-05 0 0 0 0 8.371e-05 0 . . 0.133 . -2.952 -2.952000 . . 0.890000 . . 1.0E-180 0.000 0.063 . 0.016 0.000 . 0.007 . 0.019 -2.952 -0.802 . . . . . 1 1538 10 1/0 0,177,255 +rs199605653 7 100680490 A G - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100680490 100680490 Chr7(GRCh37):g.100680490A>G 5793 5793 NM_001040105.1:c.5793A>G p.Ile1931Met p.Ile1931Met 3 608424 5609 3' 82.9692 8.82377 0.616143 2.63071 82.9692 8.82377 0.616143 2.63071 0 Cryptic Donor Strongly Activated 100680485 0.023126 59.7602 V.77 0.346704 71.9117 rs199605653 yes no Frequency 1 0.000000 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000309 0.000000 0.000309 1 0 0 0 0 0 0 1 0 27592 7022 778 280 1390 0 14000 3234 888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 51 Genomes COSM4594109|COSM4594109 Upper aerodigestive tract|Large intestine 0.000803|0.000417 1245|2398 transition A G A>G 0.000 -3.023 I Ile ATA 0.163 M Met ATG 1.000 1931 11 3 Cat 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Deleterious 0.04 II.99 bad 9.151E-4 0.0003309 184 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.A5793G:p.I1931M MUC17:NM_001040105:exon3:c.A5793G:p.I1931M . . 0.12021858 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.003 . . 366.0 . . . . . . . . . . -2.0112 -2.123 -2.011 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.091 @ . . . 0.3 0.37 182 ENSG00000169876 MUC17 MUC17 . . . 0.063 0.153 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.017 . . 0.462 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.315 . . . . . . . 0.086 . LowAF . rs199605653 . . . . . . . . . . . . . . ENST00000306151 0.579 -1.16 . 0.230000 Q685J3 . . . . . 0.020 . . . . . . . . . . . . 0 3.624e-05 0 0 0 0.0003 0 0 . . 0.133 . -3.327 -3.327000 . . 0.230000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.001 . 0.002 . 0.002 -3.327 -0.472 . . . rs199605653 rs199605653 1 1538 10 1/0 0,172,255 +rs778968018 7 100683114 G A - MUC17 16800 Mucin 17, cell surface associated NM_001040105.1 1 14350 13482 NP_001035194.1 Q685J3 substitution missense exon GRCh37 100683114 100683114 Chr7(GRCh37):g.100683114G>A 8417 8417 NM_001040105.1:c.8417G>A p.Ser2806Asn p.Ser2806Asn 3 608424 -3987 5' 87.385 8.31155 0.987033 6.31979 87.385 8.31155 0.987033 6.31979 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30776 8668 832 302 1620 0 14922 3460 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.004 0.367 S Ser AGT 0.149 N Asn AAT 0.464 2806 11 2 Olive baboon 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Deleterious 0.03 II.99 bad 1.664E-3 9.72E-5 255 PASS . . . . . . . . . . . . MUC17:uc003uxp.1:exon3:c.G8417A:p.S2806N MUC17:NM_001040105:exon3:c.G8417A:p.S2806N . . 0.44150943 . . @ 117 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.070 . . 265.0 . . . . . . . . . . -0.8497 -1.089 -0.850 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.021 . . exonic exonic exonic . . 0.113 @ . . . . . . ENSG00000169876 MUC17 MUC17 . . . 0.000 0.050 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.021 . . 0.439 . . . 0.612 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.482 . . 0.453 . . . . . . 0 0.182 . . . . . 0.040 . 0.039 . HET 0.11 . . . . . . . . . . . . . II.77 . ENST00000306151 0.762 -0.513 . 0.350000 Q685J3 . . . . . 0.014 . . . . . . . . . . . . 0 3.249e-05 0 0 0 0 6.702e-05 0 . . 0.133 . -0.174 -0.174000 . . 0.350000 . . 1.0E-255 0.000 0.063 . 0.016 0.011 . 0.018 . 0.041 -0.174 0.457 . . . . . 1 1538 10 1/0 0,213,238 +rs540908060 7 100797681 G A - AP1S1 559 Adaptor related protein complex 1 sigma 1 subunit NM_001283.4 1 1305 477 NP_001274.1 P61966 substitution 5'UTR GRCh37 100797681 100797681 Chr7(GRCh37):g.100797681G>A -115 -115 NM_001283.4:c.-115G>A p.? p.? 1 603531 -118 5' 75.323 7.41715 0.575981 6.58223 75.323 7.41715 0.575981 6.58223 0 rs540908060 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.002000 0.000000 0.001000 0.001400 0.000711 0.000230 0.001205 0.000000 0.000000 0.000000 0.001266 0.000000 0.000000 0.001266 22 2 1 0 0 0 19 0 0 30928 8702 830 302 1620 0 15006 3490 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 2 1 0 0 0 19 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.709 1.739 255 PASS . . . . . . 0.0008 0.0014 . 0.001 0.002 . . . . . 0.33333334 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 21.0 . . UPSTREAM(MODIFIER||||AP1S1|mRNA|CODING|NM_001283|) . . . . . . . 1.0834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.0008 . . . . . . ENSG00000106367 AP1S1 AP1S1 ENST00000337619:c.-115G>A . . . . . 74 0.00113888 64976 71 0.00118361 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs540908060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . 0.0002 0.0007 0.0012 0 0 0 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 101459410 T G - CUX1 2557 Cut-like homeobox 1 NM_001202543.1 1 13869 4551 NP_001189472.1 substitution intron GRCh37 101459410 101459410 Chr7(GRCh37):g.101459410T>G 63+37 63+37 NM_001202543.1:c.63+37T>G p.? p.? 1 1 116896 37 5' 85.0987 7.19963 0.430049 5.49987 85.0987 7.19963 0.430049 6.13381 0 transversion T G T>G 1.000 0.932 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . I.08 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000257923 CUX1 CUX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 101877153 G C - CUX1 2557 Cut-like homeobox 1 NM_001202543.1 1 13869 4551 NP_001189472.1 substitution intron GRCh37 101877153 101877153 Chr7(GRCh37):g.101877153G>C 3467-179 3467-179 NM_001202543.1:c.3467-179G>C p.? p.? 22 21 116896 -179 3' 91.0315 XII.76 0.997257 12.0183 91.0315 XII.76 0.997257 12.0183 0 transversion G C G>C 0.000 -1.086 243 PASS . . . . . . . . . . . . . . . . 0.29166666 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.4959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000257923 CUX1 CUX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 101993714 T A - SPDYE6 35465 Speedy/RINGO cell cycle regulator family member E6 NM_001146210.3 -1 3151 1209 NP_001139682.2 P0CI01 substitution missense exon GRCh37 101993714 101993714 Chr7(GRCh37):g.101993714T>A 497 497 NM_001146210.3:c.497A>T p.Glu166Val p.Glu166Val 3 -114 5' 71.9513 5.0016 0.427041 4.48279 71.9513 5.0016 0.427041 4.48279 0 0.000764 0.001121 0.000913 0.000000 0.002452 0.000690 0.000056 0.000000 0.000000 0.002452 38 6 9 0 18 4 1 0 0 49742 5352 9858 1242 7342 5798 17908 762 1480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 6 9 0 18 4 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.008 0.448 E Glu GAG 0.583 V Val GTG 0.468 166 12 5 Dog -3 -2 -4 0.92 0 12.III 5.IX 83 84 121 C0 353.86 0.00 Deleterious 0.01 III.91 194 PASS . . . . . . . . . . . . SPDYE6:uc011kkp.2:exon3:c.A497T:p.E166V SPDYE6:NM_001146210:exon3:c.A497T:p.E166V . . 0.14634146 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.106 . @ . . . . . 1 0.027 . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gTg|E166V|SPDYE6|mRNA|CODING|NM_001146210|NM_001146210.ex.3) . . . . . . . -0.3091 -0.201 -0.309 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.158 @ . . . . . . ENSG00000166667 SPDYE6 SPDYE6 . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.380 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.764 . . 0.764 . . . . . . 0 . . . . . . . . 0.146 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.028 . . . 0.0012 0.0008 0.0009 0 0.0025 0 5.838e-05 0 0.0007 0 0 0 0 0 0 0 0 . . 0.042 . . . . . . . . 1.0E-194 0.003 0.159 . 0.111 0.101 . 0.117 . 0.277 . 0.368 . . . . . 1 1538 10 1/0 0,255,255 +rs564832666 7 102131533 G A - RASA4B 35202 RAS p21 protein activator 4B NM_001277335.1 -1 2794 2274 NP_001264264.1 substitution intron GRCh37 102131533 102131533 Chr7(GRCh37):g.102131533G>A 1830+2030 1830+2030 NM_001277335.1:c.1830+2030C>T p.? p.? 16 16 2030 5' 85.2503 8.22968 0.954669 10.597 85.2503 8.22968 0.954669 10.597 0 rs564832666 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000143 0.000530 0.000212 0.000000 0.000141 0.000000 0.000000 0.000000 0.000000 0.000530 9 6 2 0 1 0 0 0 0 62850 11312 9426 1250 7100 5520 23170 3220 1852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 6 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.890 2.142 177 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.10570825 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.208 . @ . . . . . 2 0.163 . . 473.0 . . INTRON(MODIFIER||||RASA4B|mRNA|CODING|NM_001277335.2|) . . . . . . . -0.6742 -0.504 -0.674 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.903 . . exonic exonic intronic . . 0.519 0.0002 . . . . . . ENSG00000170667 RASA4B RASA4B . . . 0.295 0.191 . . . . . . . . . 0 . 0.486 . . . . D 0.736 0.081 . . 37 . 0.738 . . 0.677 . . . 0.031 0.810 . . . . . . . . . . . . . . . 0.029 . . . . . . 0 . . 0.158 . . 0.104 . . . . . . 0 0.010 . . . . . 0.373 . 0.089 . LowAF . rs564832666 . . . . . . . . . . . . IX.22 . . IV.38 IV.38 . 1.000000 . . . . . . 0.268 . . IV.38 0.0008 0.0002 0.0002 0 0.0002 0 0 0 0 0.0003 0.0001 0 0 0 0 0 0 . . 0.558 . 1.985 1.985000 . . 1.000000 . . 1.0E-177 0.997 0.399 . 0.266 0.991 . 0.527 . 0.434 1.985 0.917 . . . . . 1 1538 10 1/0 0,159,255 +. 7 102141570 A G - RASA4B 35202 RAS p21 protein activator 4B NM_001277335.1 -1 2794 2274 NP_001264264.1 substitution synonymous exon GRCh37 102141570 102141570 Chr7(GRCh37):g.102141570A>G 615 615 NM_001277335.1:c.615T>C p.Leu205= p.Leu205Leu 7 -28 5' 77.4164 5.89048 0.718893 9.44227 77.4164 5.89048 0.718893 9.78317 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.945 -0.682 L Leu CTT 0.129 L Leu CTC 0.197 205 197 PASS . . . . . . . . . . . . . RASA4B:NM_001277335:exon7:c.T615C:p.L205L . . 0.15384616 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 39.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctT/ctC|L205|RASA4B|mRNA|CODING|NM_001277335.2|NM_001277335.2.ex.7) . . . . . . . 0.3880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000170667 RASA4B RASA4B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199949668 7 102141600 C T - RASA4B 35202 RAS p21 protein activator 4B NM_001277335.1 -1 2794 2274 NP_001264264.1 substitution synonymous exon GRCh37 102141600 102141600 Chr7(GRCh37):g.102141600C>T 585 585 NM_001277335.1:c.585G>A p.Ala195= p.Ala195Ala 7 -58 5' 77.4164 5.89048 0.718893 9.44227 77.4164 5.89048 0.718893 9.28834 0 Cryptic Donor Strongly Activated 102141598 3.76816 0.005378 60.2684 4.94332 0.025737 63.0164 rs199949668 yes no Frequency 1 C 0.000000 0 transition G A G>A 0.008 -0.440 A Ala GCG 0.107 A Ala GCA 0.226 195 255 PASS . . . . . . . . . . . . . RASA4B:NM_001277335:exon7:c.G585A:p.A195A . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A195|RASA4B|mRNA|CODING|NM_001277335.2|NM_001277335.2.ex.7) . . . . . . . 0.0239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.36 182 ENSG00000170667 RASA4B RASA4B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199949668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11547190 rs11547190 rs11547190 rs11547190 1 1538 10 1/0 0,255,255 +rs4729808 7 102158166 G C - RASA4B 35202 RAS p21 protein activator 4B NM_001277335.1 -1 2794 2274 NP_001264264.1 substitution 5'UTR GRCh37 102158166 102158166 Chr7(GRCh37):g.102158166G>C -9 -9 NM_001277335.1:c.-9C>G p.? p.? 1 -74 5' 77.2441 5.03136 0.578311 XI.53 77.2441 5.03136 0.578311 XI.46 0 rs4729808 yes no Frequency 1 0.000000 0 0.000763 0.001439 0.000321 0.000756 0.000275 0.000248 0.000913 0.001030 0.001318 0.001439 50 9 2 2 1 3 24 7 2 65490 6254 6228 2646 3636 12112 26300 6796 1518 0.000061 0.000000 0.000000 0.000756 0.000000 0.000000 0.000076 0.000000 0.000000 2 0 0 1 0 0 1 0 0 46 9 2 0 1 3 22 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . UTR_5_PRIME(MODIFIER||||RASA4B|mRNA|CODING|NM_001277335.2|NM_001277335.2.ex.1) . . . . . . . 0.5009 . . . . . . . . 2.839e-03 . . . 0.0020 0.0015 0.0039 0.0016 0 0.0015 0 0.0010 0.0017 0.0017 0.0041 0.0012 0.0041 0.0023 0 0.0010 . . . . . . ncRNA_intronic UTR5 UTR5 . . . @ . . . 0.73 0.61 182 ENSG00000272949 RASA4B RASA4B . . NM_001277335:c.-9C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs773739095 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0006 0.0003 0.0008 0.0003 0.0010 0.0008 0 0.0002 0.0026 0.0021 0 0 0 0.0018 0.0016 0.0094 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.022 rs4729808 rs4729808 rs4729808 rs4729808 1 1538 255 1.I 0,0,255 +rs754613845 7 102196313 A T - POLR2J3 33853 Polymerase (RNA) II (DNA directed) polypeptide J3 NM_001097615.2 -1 1680 348 NP_001091084.2 Q9H1A7 substitution intron GRCh37 102196313 102196313 Chr7(GRCh37):g.102196313A>T *54+11131 *54+11131 NM_001097615.2:c.*54+11131T>A p.? p.? 4 4 11131 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 rs754613845 yes no Frequency 1 0.000000 0 0.001303 0.001175 0.000599 0.001404 0.003639 0.001904 0.000938 0.000706 0.001802 0.003639 50 8 4 1 13 8 13 1 2 38360 6806 6682 712 3572 4202 13860 1416 1110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 8 4 1 13 8 13 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.016 0.367 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.2662 . . . . . . . . 4.040e-03 . . . 0.0426 0.0333 0.125 0.3333 . 0.0169 0 0 0 0.0556 . 0.5 . 0 . 0 . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000205238 . . ENST00000341656:c.-87A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754613845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0017 0.0005 0.0016 0.0042 0 0.0015 0.0025 0.0019 0.0003 0.0003 0.0029 0 0 0.0008 0.0002 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs754613845 7 102196313 A T - SPDYE2 33841 Speedy homolog E2 (Xenopus laevis) NM_001031618.3 1 1983 1209 NP_001026789.2 substitution intron GRCh37 102196313 102196313 Chr7(GRCh37):g.102196313A>T 380-34 380-34 NM_001031618.3:c.380-34A>T p.? p.? 4 3 617624 -34 3' 86.4067 IV.41 0.773455 3.01454 86.4067 IV.41 0.773455 3.24423 0 102196313 -62.0695 rs754613845 yes no Frequency 1 0.000000 0 0.001303 0.001175 0.000599 0.001404 0.003639 0.001904 0.000938 0.000706 0.001802 0.003639 50 8 4 1 13 8 13 1 2 38360 6806 6682 712 3572 4202 13860 1416 1110 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 8 4 1 13 8 13 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.016 0.367 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.2662 . . . . . . . . 4.040e-03 . . . 0.0426 0.0333 0.125 0.3333 . 0.0169 0 0 0 0.0556 . 0.5 . 0 . 0 . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000205238 . . ENST00000341656:c.-87A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754613845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0017 0.0005 0.0016 0.0042 0 0.0015 0.0025 0.0019 0.0003 0.0003 0.0029 0 0 0.0008 0.0002 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs762863194 7 102197663 G A - POLR2J3 33853 Polymerase (RNA) II (DNA directed) polypeptide J3 NM_001097615.2 -1 1680 348 NP_001091084.2 Q9H1A7 substitution intron GRCh37 102197663 102197663 Chr7(GRCh37):g.102197663G>A *54+9781 *54+9781 NM_001097615.2:c.*54+9781C>T p.? p.? 4 4 9781 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 Cryptic Acceptor Strongly Activated 102197651 7.53071 0.044663 72.4145 8.18562 0.064348 75.7292 rs762863194 yes no Frequency 1 0.000000 0 0.000897 0.000775 0.000285 0.000000 0.004801 0.000000 0.000526 0.001359 0.000704 0.004801 46 5 3 0 26 0 10 1 1 51264 6454 10516 1376 5416 6344 19002 736 1420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 5 3 0 26 0 10 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4004220 Haematopoietic and lymphoid tissue 0.000565 3540 transition C T C>T 0.039 -2.216 208 PASS . . . . . . . . . . . . SPDYE2B:uc011kkx.2:exon5:c.G663A:p.S221S . . . 0.18032786 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.6012 . . . . . . . . 3.531e-04 . . . 0 0.0031 0.0060 0.0459 0 0 0 0 0 0.0058 0.0066 0.0685 0 0.0015 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000205238 SPDYE2B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs762863194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0009 0.0003 0 0.0048 0.0014 0.0006 0.0007 0 0.0007 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs762863194 7 102197663 G A - SPDYE2 33841 Speedy homolog E2 (Xenopus laevis) NM_001031618.3 1 1983 1209 NP_001026789.2 substitution synonymous exon GRCh37 102197663 102197663 Chr7(GRCh37):g.102197663G>A 663 663 NM_001031618.3:c.663G>A p.Ser221= p.Ser221Ser 5 617624 -7 5' 94.6745 X.23 0.997884 4.78748 94.6745 X.23 0.998289 4.71338 0.000135286 Cell cycle regulatory protein, Spy1 rs762863194 yes no Frequency 1 0.000000 0 0.000897 0.000775 0.000285 0.000000 0.004801 0.000000 0.000526 0.001359 0.000704 0.004801 46 5 3 0 26 0 10 1 1 51264 6454 10516 1376 5416 6344 19002 736 1420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 5 3 0 26 0 10 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4004220 Haematopoietic and lymphoid tissue 0.000565 3540 transition G A G>A 0.039 -2.216 S Ser TCG 0.056 S Ser TCA 0.148 221 208 PASS . . . . . . . . . . . . SPDYE2B:uc011kkx.2:exon5:c.G663A:p.S221S . . . 0.18032786 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.6012 . . . . . . . . 3.531e-04 . . . 0 0.0031 0.0060 0.0459 0 0 0 0 0 0.0058 0.0066 0.0685 0 0.0015 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000205238 SPDYE2B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs762863194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0009 0.0003 0 0.0048 0.0014 0.0006 0.0007 0 0.0007 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 102201301 G A - POLR2J3 33853 Polymerase (RNA) II (DNA directed) polypeptide J3 NM_001097615.2 -1 1680 348 NP_001091084.2 Q9H1A7 substitution intron GRCh37 102201301 102201301 Chr7(GRCh37):g.102201301G>A *54+6143 *54+6143 NM_001097615.2:c.*54+6143C>T p.? p.? 4 4 6143 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 COSM6430631 Thyroid 0.001339 747 transition C T C>T 0.157 -0.037 174 PASS . . . . . . . . . . . . SPDYE2B:uc011kkx.2:exon7:c.G1010A:p.R337H . . . 0.13245033 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.226 . @ . . . . . 1 0.190 . . 151.0 . . . . . . . . . . -1.2400 -1.309 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.39 182 ENSG00000205238 SPDYE2B . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.147 . . 0.202 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.243 . . 0.179 . . . . . . 1 0.453 . . . . . . . 0.153 . LowAF 0.05 . . . . . . . . . . . . . . . . . . . 0.140000 Q495Y8 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.000 0.000000 . . 0.140000 . . 1.0E-174 0.164 0.236 . 0.207 0.161 . 0.128 . 0.135 0.000 0.000 . rs2960249 rs2960249 rs2960249 rs2960249 1 1538 10 1/0 0,212,255 +. 7 102201301 G A - SPDYE2 33841 Speedy homolog E2 (Xenopus laevis) NM_001031618.3 1 1983 1209 NP_001026789.2 substitution missense exon GRCh37 102201301 102201301 Chr7(GRCh37):g.102201301G>A 1010 1010 NM_001031618.3:c.1010G>A p.Arg337His p.Arg337His 7 617624 -140 5' 92.583 10.0326 0.987705 XII.94 92.583 10.0326 0.987705 XII.94 0 COSM6430631 Thyroid 0.001339 747 transition G A G>A 0.157 -0.037 R Arg CGT 0.082 H His CAT 0.413 337 21 4 Macaque 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 174 PASS . . . . . . . . . . . . SPDYE2B:uc011kkx.2:exon7:c.G1010A:p.R337H . . . 0.13245033 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.226 . @ . . . . . 1 0.190 . . 151.0 . . . . . . . . . . -1.2400 -1.309 -1.240 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.39 182 ENSG00000205238 SPDYE2B . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.147 . . 0.202 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.243 . . 0.179 . . . . . . 1 0.453 . . . . . . . 0.153 . LowAF 0.05 . . . . . . . . . . . . . . . . . . . 0.140000 Q495Y8 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.000 0.000000 . . 0.140000 . . 1.0E-174 0.164 0.236 . 0.207 0.161 . 0.128 . 0.135 0.000 0.000 . rs2960249 rs2960249 rs2960249 rs2960249 1 1538 10 1/0 0,212,255 +. 7 102234157 G A - RASA4 23181 RAS p21 protein activator 4 NM_006989.5 -1 5606 2412 NP_008920.5 O43374 substitution synonymous exon GRCh37 102234157 102234157 Chr7(GRCh37):g.102234157G>A 1512 1512 NM_006989.5:c.1512C>T p.Ala504= p.Ala504Ala 14 607943 -4 5' 79.5269 8.16693 0.857949 XI.91 79.5269 8.16693 0.661542 X.92 -0.0763087 Cryptic Acceptor Strongly Activated 102234153 3.26633 0.031204 73.5146 3.73041 0.06211 73.5146 Ras GTPase-activating protein 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 1.000 2.627 A Ala GCC 0.403 A Ala GCT 0.263 504 233 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.0812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.59 182 ENSG00000105808 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VIII.66 . . III.43 II.53 . 0.020000 . . . . . . . . . II.53 . . . . . . . . . . . . . . . . . . . . . 0.755 0.755000 . . 0.020000 . . 1.0000000000000001E-233 . . . . . . . . . 0.755 . . rs739735 rs739735 rs739735 rs739735 1 1538 10 1/0 0,255,255 +rs550649247 7 102235741 T C - RASA4 23181 RAS p21 protein activator 4 NM_006989.5 -1 5606 2412 NP_008920.5 O43374 substitution intron GRCh37 102235741 102235741 Chr7(GRCh37):g.102235741T>C 1071+11 1071+11 NM_006989.5:c.1071+11A>G p.? p.? 11 11 607943 11 5' 90.3122 9.15773 0.923919 3.18185 90.3122 9.15773 0.923919 3.34384 0 rs550649247 yes no Frequency/1000G 2 0.000000 0 0.000998 0.000000 0.000000 0.002000 0.000000 0.004300 0.000025 0.000000 0.000044 0.000000 0.000000 0.000150 0.000011 0.000000 0.000000 0.000150 5 0 1 0 0 3 1 0 0 202108 20174 22498 6966 13526 20024 94276 20022 4622 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -1.005 195 PASS . . . . . . 0.001 0.0043 0.002 . . . . . . . 0.14893617 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.1686 . . . . . . . . 5.152e-05 . . . 0 8.99e-05 0.0002 0 0 0 0 0.0004 0 0.0001 0.0002 0.0002 0 3.657e-05 0 0.0004 . . . . . . intronic ncRNA_intronic intronic . . . 0.0010 . . . . . . . BC085014 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs550649247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.814e-05 4.583e-05 0 0 0 1.209e-05 0 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 102240731 A G - RASA4 23181 RAS p21 protein activator 4 NM_006989.5 -1 5606 2412 NP_008920.5 O43374 substitution synonymous exon GRCh37 102240731 102240731 Chr7(GRCh37):g.102240731A>G 615 615 NM_006989.5:c.615T>C p.Leu205= p.Leu205Leu 7 607943 -28 5' 77.4164 5.89048 0.718893 9.44227 77.4164 5.89048 0.718893 9.78317 0 C2 calcium-dependent membrane targeting C2 membrane targeting protein 0.006494 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.071429 0.000000 1 0 0 0 0 0 0 0 1 154 0 40 0 0 98 2 0 14 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5426859 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.976 -0.521 L Leu CTT 0.129 L Leu CTC 0.197 205 223 PASS . . . . . . . . . . . . . . . . 0.2236842 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . 0.1737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000105808 RASA4 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0065 0 . . . 0 0.0714 0 . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 7 102295397 A T - POLR2J2 23208 Polymerase (RNA) II (DNA directed) polypeptide J2 NM_032959.5 -1 1987 348 NP_116581.3 Q9GZM3 substitution intron GRCh37 102295397 102295397 Chr7(GRCh37):g.102295397A>T *54+11127 *54+11127 NM_032959.5:c.*54+11127T>A p.? p.? 4 4 609881 11127 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 0.000371 0.001082 0.001050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001082 2 1 1 0 0 0 0 0 0 5394 924 952 86 602 1710 950 24 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 104 Exomes transversion T A T>A 0.185 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.2877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000173678 . . ENST00000455020:c.-87A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0004 0.0011 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 102295397 A T - SPDYE2B 48334 Speedy/RINGO cell cycle regulator family member E2B NM_001166339.1 1 1983 1209 NP_001159811.1 A6NHP3 substitution intron GRCh37 102295397 102295397 Chr7(GRCh37):g.102295397A>T 380-34 380-34 NM_001166339.1:c.380-34A>T p.? p.? 4 3 -34 3' 86.4067 IV.41 0.773455 3.01454 86.4067 IV.41 0.773455 3.24423 0 102295397 -62.0695 0.000371 0.001082 0.001050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001082 2 1 1 0 0 0 0 0 0 5394 924 952 86 602 1710 950 24 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 104 Exomes transversion A T A>T 0.185 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.2877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000173678 . . ENST00000455020:c.-87A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0004 0.0011 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs763948921 7 102296747 G A - POLR2J2 23208 Polymerase (RNA) II (DNA directed) polypeptide J2 NM_032959.5 -1 1987 348 NP_116581.3 Q9GZM3 substitution intron GRCh37 102296747 102296747 Chr7(GRCh37):g.102296747G>A *54+9777 *54+9777 NM_032959.5:c.*54+9777C>T p.? p.? 4 4 609881 9777 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 Cryptic Acceptor Strongly Activated 102296735 7.53071 0.044663 72.4145 8.18562 0.064348 75.7292 rs763948921 yes no Frequency 1 0.000000 0 0.003222 0.003812 0.002163 0.003614 0.005727 0.007958 0.001225 0.002861 0.004326 0.007958 206 38 24 6 45 53 29 4 7 63938 9968 11098 1660 7858 6660 23678 1398 1618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 206 38 24 6 45 53 29 4 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.087 -1.651 208 PASS . . . . . . . . . . . . SPDYE2B:uc011kle.2:exon5:c.G663A:p.S221S . . . 0.18421052 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.5360 . . . . . . . . 1.039e-03 . . . 0.0081 0.0068 0.0061 0.0122 0.025 0.0030 0 0.0087 0.0081 0.0086 0.0070 0.0139 0.0110 0.0040 0 0.0088 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000173678 SPDYE2B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs763948921 . . . . . . ID\x3dCOSM3083538\x3bOCCURENCE\x3d1(breast) . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0032 0.0022 0.0036 0.0058 0.0029 0.0012 0.0044 0.0080 0.0031 0.0026 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs763948921 7 102296747 G A - SPDYE2B 48334 Speedy/RINGO cell cycle regulator family member E2B NM_001166339.1 1 1983 1209 NP_001159811.1 A6NHP3 substitution synonymous exon GRCh37 102296747 102296747 Chr7(GRCh37):g.102296747G>A 663 663 NM_001166339.1:c.663G>A p.Ser221= p.Ser221Ser 5 -7 5' 94.6745 X.23 0.997884 4.78748 94.6745 X.23 0.998289 4.71338 0.000135286 Cell cycle regulatory protein, Spy1 rs763948921 yes no Frequency 1 0.000000 0 0.003222 0.003812 0.002163 0.003614 0.005727 0.007958 0.001225 0.002861 0.004326 0.007958 206 38 24 6 45 53 29 4 7 63938 9968 11098 1660 7858 6660 23678 1398 1618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 206 38 24 6 45 53 29 4 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.087 -1.651 S Ser TCG 0.056 S Ser TCA 0.148 221 208 PASS . . . . . . . . . . . . SPDYE2B:uc011kle.2:exon5:c.G663A:p.S221S . . . 0.18421052 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.5360 . . . . . . . . 1.039e-03 . . . 0.0081 0.0068 0.0061 0.0122 0.025 0.0030 0 0.0087 0.0081 0.0086 0.0070 0.0139 0.0110 0.0040 0 0.0088 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000173678 SPDYE2B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs763948921 . . . . . . ID\x3dCOSM3083538\x3bOCCURENCE\x3d1(breast) . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0032 0.0022 0.0036 0.0058 0.0029 0.0012 0.0044 0.0080 0.0031 0.0026 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 102300391 G A - POLR2J2 23208 Polymerase (RNA) II (DNA directed) polypeptide J2 NM_032959.5 -1 1987 348 NP_116581.3 Q9GZM3 substitution intron GRCh37 102300391 102300391 Chr7(GRCh37):g.102300391G>A *54+6133 *54+6133 NM_032959.5:c.*54+6133C>T p.? p.? 4 4 609881 6133 5' 73.8017 7.93713 0.928992 0 73.8017 7.93713 0.928992 0 0 transition C T C>T 0.071 0.125 207 PASS . . . . . . . . . . . . SPDYE2B:uc011kle.2:exon7:c.G1010A:p.R337H . . . 0.1780822 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.162 . @ . . . . . 1 0.229 . . 146.0 . . . . . . . . . . -1.2714 -1.356 -1.271 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.39 182 ENSG00000173678 SPDYE2B . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.148 . . 0.216 . . . 0.170 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.243 . . 0.179 . . . . . . 1 0.453 . . . . . . . 0.064 . HET 0.05 . . . . . . . . . . . . . . . . . . . 0.190000 A6NHP3 . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.107 0.107000 . . 0.190000 . . 1.0E-207 0.025 0.199 . 0.117 0.161 . 0.172 . 0.256 0.107 0.000 . rs2960249 rs2960249 rs2960249 rs2960249 1 1538 10 1/0 0,217,255 +. 7 102300391 G A - SPDYE2B 48334 Speedy/RINGO cell cycle regulator family member E2B NM_001166339.1 1 1983 1209 NP_001159811.1 A6NHP3 substitution missense exon GRCh37 102300391 102300391 Chr7(GRCh37):g.102300391G>A 1010 1010 NM_001166339.1:c.1010G>A p.Arg337His p.Arg337His 7 -140 5' 92.583 10.0326 0.987705 XII.94 92.583 10.0326 0.987705 XII.94 0 transition G A G>A 0.071 0.125 R Arg CGT 0.082 H His CAT 0.413 337 24 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Not scored 0.0 0.0 207 PASS . . . . . . . . . . . . SPDYE2B:uc011kle.2:exon7:c.G1010A:p.R337H . . . 0.1780822 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.162 . @ . . . . . 1 0.229 . . 146.0 . . . . . . . . . . -1.2714 -1.356 -1.271 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.39 182 ENSG00000173678 SPDYE2B . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.148 . . 0.216 . . . 0.170 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.281 . . 0 0 0 0 0 0 . 0.243 . . 0.179 . . . . . . 1 0.453 . . . . . . . 0.064 . HET 0.05 . . . . . . . . . . . . . . . . . . . 0.190000 A6NHP3 . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.107 0.107000 . . 0.190000 . . 1.0E-207 0.025 0.199 . 0.117 0.161 . 0.172 . 0.256 0.107 0.000 . rs2960249 rs2960249 rs2960249 rs2960249 1 1538 10 1/0 0,217,255 +. 7 103301862 T G - RELN 9957 Reelin NM_005045.3 -1 11571 10383 NP_005036.2 P78509 substitution missense exon GRCh37 103301862 103301862 Chr7(GRCh37):g.103301862T>G 1402 1402 NM_005045.3:c.1402A>C p.Thr468Pro p.Thr468Pro 12 600514 -40 5' 86.9112 X.85 0.995544 4.41187 86.9112 X.85 0.995544 4.27141 0 transversion A C A>C 1.000 4.564 T Thr ACT 0.243 P Pro CCT 0.283 468 13 11 Tetraodon -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Deleterious 0 IV.32 bad 1.726E-6 1.713E-5 187 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.558 . . 46.0 . . . . . . . . . . 0.3848 0.361 0.385 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.275 . . exonic exonic exonic . . 0.746 @ . . . . . . ENSG00000189056 RELN RELN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.501 0.027 . . 37 . 0.446 . . 0.387 . . . 0.263 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 0 0.335 . . . . . 0.730 . 0.976 . LowAF 0.04 . . . . . . . . . . . . . 15.2296 . . 5.III 5.III . 0.080000 . . . Name\x3dnsv831085 . . 0.397 . . 5.III . . . . . . . . . . . . . . . . . . . 0.439 . 2.004 2.004000 . . 0.080000 . . 1.0E-187 1.000 0.715 . 0.232 0.951 . 0.620 . 0.601 2.004 0.991 . . . . . 1 1538 10 1.I 0,0,0 +. 7 105910731 C T - NAMPT 30092 Nicotinamide phosphoribosyltransferase NM_005746.2 -1 4582 1476 NP_005737.1 P43490 substitution intron GRCh37 105910731 105910731 Chr7(GRCh37):g.105910731C>T 448-973 448-973 NM_005746.2:c.448-973G>A p.? p.? 5 4 608764 -973 3' 93.1434 3.17509 0.350129 1.61909 93.1434 3.17509 0.350129 1.61909 0 transition G A G>A 0.472 0.528 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||NAMPT|mRNA|CODING|NM_005746|) . . . . . . . 0.6068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000105835 NAMPT NAMPT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv888937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs78330939 7 107315373 C T - SLC26A4 8818 Solute carrier family 26 member 4 NM_000441.1 1 4930 2343 NP_000432.1 O43511 substitution intron GRCh37 107315373 107315373 Chr7(GRCh37):g.107315373C>T 601-17 601-17 NM_000441.1:c.601-17C>T p.? p.? 6 5 605646 -17 3' 79.4638 8.14466 0.972939 9.41683 79.4638 7.99636 0.980679 9.24685 -0.00341798 rs78330939 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.003100 0.002000 0.004000 0.001400 0.002587 0.001000 0.000988 0.000099 0.001378 0.001949 0.004307 0.000349 0.002787 0.004307 716 24 34 1 26 60 544 9 18 276754 24010 34418 10150 18870 30780 126298 25770 6458 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 706 24 34 1 26 60 534 9 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8574 4403 12977 26 3 29 0.00302326 0.00068089 0.00222974 0.00302326 0.00068089 0.00222974 151 transition C T C>T 0.000 0.367 255 PASS . 0.0023 0.0028 0.0017 0.004 . 0.002 0.0014 0.002 0.004 0.0031 . . . . . 0.4473684 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||SLC26A4|mRNA|CODING|NM_000441|) 0.0007 0.0022 0.003 0.0007 0.0022 0.003 . 0.1680 . . . . . . . . 2.533e-03 . . . 0.0006 0.0025 0.0009 0.0011 0 0.0041 0.0014 0.0020 0.0007 0.0023 0.0009 0.0014 0 0.0034 0.0014 0.0020 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.47 0.37 182 ENSG00000091137 SLC26A4 SLC26A4 . . . . . . 168 0.00258557 64976 158 0.00263395 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78330939 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.002230 . . . . . 0.0007 0.0025 0.0010 0.0001 0.0013 0.0003 0.0041 0.0026 0.0019 0.0016 0.0035 0.0024 0 0.0025 0.0006 0.0055 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs78330939 rs78330939 1 1538 10 1/0 0,255,255 +. 7 107575792 GTTTTTTTTTTTTT G - LAMB1 6486 Laminin, beta 1 NM_002291.2 -1 5846 5361 NP_002282.2 P07942 deletion intron GRCh37 107575793 107575805 Chr7(GRCh37):g.107575793_107575805del 4188+55 4188+67 NM_002291.2:c.4188+55_4188+67del p.? p.? 27 27 150240 55 5' 86.1635 9.33191 0.987323 II.84 86.1635 9.33191 0.987323 4.26897 0 rs200599445 no no 0 0.000000 0 AAAAAAAAAAAAA 255 Pass . . . . . . . . . . . . . . . . 0.71794873 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . INTRON(MODIFIER||||LAMB1|mRNA|CODING|NM_002291|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000091136 LAMB1 LAMB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200599445 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200599445 rs200599445 1 1538 10 1.I 0,10,14 +rs201373619 7 107575801 T C - LAMB1 6486 Laminin, beta 1 NM_002291.2 -1 5846 5361 NP_002282.2 P07942 substitution intron GRCh37 107575801 107575801 Chr7(GRCh37):g.107575801T>C 4188+59 4188+59 NM_002291.2:c.4188+59A>G p.? p.? 27 27 150240 59 5' 86.1635 9.33191 0.987323 II.84 86.1635 9.33191 0.987323 3.04817 0 rs201373619 yes no Frequency/1000G 2 T 0.000000 0 0.126398 0.032500 0.108400 0.159700 0.187900 0.193100 transition A G A>G 0.000 0.205 232 PASS . . . . . 0.033 0.13 0.19 0.16 0.19 0.11 . . . . . 0.12820514 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||LAMB1|mRNA|CODING|NM_002291|) . . . . . . . -0.2507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1264 . . . 0.36 0.27 182 ENSG00000091136 LAMB1 LAMB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201373619 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . rs201373619 rs201373619 1 1538 10 1/0 0,255,255 +rs537372267 7 107575805 T G - LAMB1 6486 Laminin, beta 1 NM_002291.2 -1 5846 5361 NP_002282.2 P07942 substitution intron GRCh37 107575805 107575805 Chr7(GRCh37):g.107575805T>G 4188+55 4188+55 NM_002291.2:c.4188+55A>C p.? p.? 27 27 150240 55 5' 86.1635 9.33191 0.987323 II.84 86.1635 9.33191 0.987323 3.21952 0 rs537372267 yes no Frequency/1000G 2 T 0.000000 0 0.127196 0.034800 0.109400 0.159700 0.187900 0.193100 0.000879 0.002683 0.003460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003460 21 19 2 0 0 0 0 0 0 23896 7082 578 274 1530 0 12200 1570 662 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 19 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion A C A>C 0.000 -0.117 255 PASS . . . . . 0.035 0.13 0.19 0.16 0.19 0.11 . . . . . 0.19444445 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||LAMB1|mRNA|CODING|NM_002291|) . . . . . . . -0.1841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1272 . . . . . . ENSG00000091136 LAMB1 LAMB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs537372267 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831088 . . . . . . . . . . . . . . . 0.0027 0.0009 0.0035 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 110303566 G A - IMMP2L 14598 Inner mitochondrial membrane peptidase subunit 2 NM_001350961.1 -1 1293 612 NP_001337890.1 substitution 3'UTR GRCh37 110303566 110303566 Chr7(GRCh37):g.110303566G>A *92 *92 NM_001350961.1:c.*92C>T p.? p.? 8 605977 212 3' 71.1005 6.25042 0.015512 4.54105 71.1005 6.25042 0.015512 4.54105 0 0.000032 0.000000 0.000000 0.000000 0.000618 0.000000 0.000000 0.000000 0.000000 0.000618 1 0 0 0 1 0 0 0 0 30964 8732 836 302 1618 0 15008 3490 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.51428574 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.2160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000184903 IMMP2L IMMP2L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.I . . . . . . . . . 0 3.23e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 116655046 C G - ST7 11351 Suppression of tumorigenicity 7 NM_021908.2 1 2899 1758 NP_068708.1 Q9NRC1 substitution intron GRCh37 116655046 116655046 Chr7(GRCh37):g.116655046C>G 151+61301 151+61301 NM_021908.2:c.151+61301C>G p.? p.? 1 1 600833 61301 5' 94.9812 11.083 0.998826 XII.23 94.9812 11.083 0.998826 XII.23 0 transversion C G C>G 0.126 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.40816328 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . I.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . . . . ENSG00000004866 ST7 ST7 . uc003viq.3:c.-10C>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs748187611 7 122000964 G T - CADPS2 16018 Ca++-dependent secretion activator 2 NM_001167940.1 -1 6066 3903 NP_001161412.1 substitution intron GRCh37 122000964 122000964 Chr7(GRCh37):g.122000964G>T 3483+20 3483+20 NM_001167940.1:c.3483+20C>A p.? p.? 26 26 609978 20 5' 78.1641 8.59132 0.945108 2.22878 78.1641 8.59132 0.945108 1.86716 0 rs748187611 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000264 0.000000 0.000000 0.000000 0.000264 8 0 0 0 0 8 0 0 0 244068 15152 33352 9798 17130 30340 110640 22232 5424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 0 PASS 55 Exomes transversion C A C>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.37209302 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 0.5709 . . . . . . . . 4.005e-05 . . . 0 6.057e-05 0 0 0 0 0 0.0003 0 5.184e-05 0 0 0 0 0 0.0003 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000240499 CADPS2 CADPS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748187611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.278e-05 0 0 0 0 0 0 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs184260455 7 123222137 T C - NDUFA5 7688 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 NM_001291304.1 -1 5776 549 NP_001278233.1 substitution splice site GRCh37 123222137 123222137 Chr7(GRCh37):g.123222137T>C 86-2 86-2 NM_001291304.1:c.86-2A>G p.? p.? 3 2 601677 -2 3' 91.656 12.0655 0.983146 8.83411 0 0 0 0 -1 rs184260455 yes no Frequency/1000G 2 T 0.000000 0 0.013578 0.001500 0.041900 0.001000 0.013900 0.014400 0.006561 0.001489 0.010766 0.033113 0.000627 0.000000 0.010397 0.000859 0.011224 0.033113 203 13 9 10 1 0 156 3 11 30940 8730 836 302 1594 0 15004 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 203 13 9 10 1 0 156 3 11 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition A G A>G 0.024 0.528 255 PASS 0.002 0.01 0.01 0.0017 0.01 0.0015 0.014 0.014 0.001 0.014 0.042 . . . . . 0.45454547 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 44.0 . . . . . . . . . . 0.1285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic splicing . . . 0.0136 . . . 0.15 0.25 182 ENSG00000146809 . NDUFA5 . dist\x3d24179\x3bdist\x3d19784 NM_001291304:exon3:c.86-2A>G . . . 709 0.0109117 64976 633 0.0105525 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs184260455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0066 0.0108 0.0331 0.0006 0.0009 0.0104 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs184260455 rs184260455 1 1538 10 1/0 0,255,255 +. 7 127230941 A AG - ARF5 658 ADP-ribosylation factor 5 NM_001662.3 1 1096 543 NP_001653.1 P84085 duplication intron GRCh37 127230943 127230944 Chr7(GRCh37):g.127230943dup 331-74 331-74 NM_001662.3:c.331-74dup p.? p.? 5 4 103188 -73 3' 84.6869 9.66894 0.994035 13.2477 84.6869 9.66894 0.994035 13.4832 0 0.000129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000860 0.000000 0.000860 4 0 0 0 0 0 1 3 0 30926 8718 838 302 1622 0 14978 3490 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.47474748 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000004059 ARF5 ARF5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831122 . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0009 6.676e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,32 +rs62481073 7 127894849 C T - LEP 6553 Leptin NM_000230.2 1 3427 504 NP_000221.1 P41159 substitution 3'UTR GRCh37 127894849 127894849 Chr7(GRCh37):g.127894849C>T *33 *33 NM_000230.2:c.*33C>T p.? p.? 3 164160 393 3' 74.69 6.94845 0.911794 6.16563 74.69 6.94845 0.911794 6.16563 0 rs62481073 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000800 0.000000 0.000000 0.003000 0.001400 0.002974 0.000690 0.001957 0.000300 0.000000 0.000750 0.004585 0.005124 0.003162 0.005124 786 16 67 3 0 23 567 90 20 264296 23192 34242 10016 18634 30652 123668 17566 6326 0.000023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000049 0.000000 0.000000 3 0 0 0 0 0 3 0 0 780 16 67 3 0 23 561 90 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4396 12957 31 2 33 0.00360801 0.000454752 0.00254042 0.00360801 0.000454752 0.00254042 19 CR052436 Lower pulse pressure and CIMT, association with 15937081 DP transition C T C>T 0.000 -1.489 255 PASS 0.002 0.0014 . . 0.0026 0.0008 0.001 0.0014 . 0.003 . . . . . . 0.41304347 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . UTR_3_PRIME(MODIFIER||||LEP|mRNA|CODING|NM_000230|NM_000230.ex.3) 0.0005 0.0025 0.0036 0.0005 0.0025 0.0036 . -0.1776 . . . . . . . . 2.606e-03 . . . 0.0010 0.0026 0.0016 0 0.0075 0.0038 0.0060 0.0009 0.0009 0.0026 0.0016 0 0.0068 0.0035 0.0074 0.0009 . . . . . . UTR3 UTR3 UTR3 . . . 0.0010 . . . 0.76 0.94 182 ENSG00000174697 LEP LEP ENST00000308868:c.*33C>T . NM_000230:c.*33C>T . . . 225 0.00346282 64976 220 0.00366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62481073 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv33413 0.002540 . . . . . 0.0005 0.0030 0.0019 0.0003 0 0.0051 0.0047 0.0032 0.0008 0.0010 0.0028 0.0036 0 0 0.0052 0.0036 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0036 rs62481073 rs62481073 rs62481073 rs62481073 1 1538 10 1/0 0,255,255 +rs545236590 7 128291683 C T - LINC01000 38541 Long intergenic non-protein coding RNA 1000 NR_024368.1 1 10263 0 substitution exon GRCh37 128291683 128291683 Chr7(GRCh37):g.128291683C>T 894 894 NR_024368.1:n.894C>T 5 441 3' 81.3722 4.00422 0.702295 0 81.3722 4.00422 0.702295 0 0 Cryptic Acceptor Strongly Activated 128291690 0.26962 0.032884 76.4308 0.98978 0.057449 77.9414 rs545236590 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.003697 0.000621 0.002666 0.010495 0.000000 0.002383 0.005151 0.003118 0.005701 0.010495 545 9 62 75 0 49 301 25 24 147418 14490 23256 7146 11294 20566 58438 8018 4210 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000103 0.000000 0.000000 3 0 0 0 0 0 3 0 0 539 9 62 75 0 49 295 25 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.984 -0.279 255 PASS . . . . . . 0.0004 . . 0.002 . . FLJ45340:uc010lll.2:exon5:c.C444T:p.H148H . . . 0.42028984 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H298|LINC01000|Non-coding_transcript|NON_CODING|NR_024368|NR_024368.ex.5) . . . . . . . -0.2679 . . . . . . . . 3.289e-03 . . . 0 0.0049 0 0 . 0.0118 0.0116 0.0025 0 0.0047 0 0 . 0.0117 0.0119 0.0025 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0004 . . . . . . ENSG00000243302 FLJ45340 LINC01000 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs545236590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0039 0.0027 0.0102 0 0.0033 0.0056 0.0059 0.0024 0.0008 0.0028 0.0024 0.0172 0 0.0029 0.0038 0.0052 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 128294489 G T - LINC01000 38541 Long intergenic non-protein coding RNA 1000 NR_024368.1 1 10263 0 substitution exon GRCh37 128294489 128294489 Chr7(GRCh37):g.128294489G>T 3700 3700 NR_024368.1:n.3700G>T 5 3247 3' 81.3722 4.00422 0.702295 0 81.3722 4.00422 0.702295 0 0 0.008628 0.007963 0.010000 0.000000 0.019459 0.000000 0.009223 0.004817 0.006158 0.019459 221 58 7 0 23 0 113 15 5 25614 7284 700 270 1182 0 12252 3114 812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 221 58 7 0 23 0 113 15 5 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion G T G>T 0.551 -1.732 233 PASS . . . . . . . . . . . . . . . . 0.2580645 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 31.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V1234L|LINC01000|Non-coding_transcript|NON_CODING|NR_024368|NR_024368.ex.5) . . . . . . . -0.8440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000243679 FLJ45340 LINC01000 . uc010lll.2:c.*2134G>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0080 0.0086 0.01 0 0.0195 0.0048 0.0092 0.0062 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs146397482 7 128446359 C T - CCDC136 22225 Coiled-coil domain containing 136 NM_022742.4 1 4221 3465 NP_073579.4 Q96JN2 substitution synonymous exon GRCh37 128446359 128446359 Chr7(GRCh37):g.128446359C>T 1158 1158 NM_022742.4:c.1158C>T p.Asn386= p.Asn386Asn 8 611902 69 3' 77.2703 8.1575 0.73006 7.69699 77.2703 8.1575 0.73006 7.43617 0 rs146397482 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002328 0.000524 0.001294 0.000000 0.000000 0.000271 0.003983 0.002315 0.003238 0.003983 557 11 39 0 0 7 426 55 19 239300 20992 30150 9424 16266 25874 106966 23760 5868 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 2 0 0 0 0 0 2 0 0 553 11 39 0 0 7 422 55 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8254 3856 12110 30 4 34 0.00362144 0.00103627 0.00279974 0.00362144 0.00103627 0.00279974 32 transition C T C>T 0.000 -1.409 N Asn AAC 0.536 N Asn AAT 0.464 386 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . ENSG00000128596:ENST00000297788:exon8:c.C1158T:p.N386N . CCDC136:NM_022742:exon8:c.C1158T:p.N386N . . 0.5714286 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 21.0 . . . 0.001 0.0028 0.0036 0.001 0.0028 0.0036 . -1.1448 . . . . . . . . 1.979e-03 . . . 0.0007 0.0033 0.0023 0 0.0112 0.0055 0.0038 0.0002 0.0006 0.0038 0.0025 0 0.0071 0.0065 0.0040 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.54 0.31 182 ENSG00000128596 CCDC136 CCDC136 . . . . . . 203 0.00312423 64976 200 0.00333411 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs146397482 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 4.0304 6.31E-4 ENST00000494552 V.71 -9.66 . . . . . . 0.002800 . . . . . 0.0002 0.0023 0.0012 0 0 0.0022 0.0040 0.0031 0.0003 0.0009 0.0028 0.0036 0 0 0.0029 0.0041 0.0041 . . . . -1.134 -1.134000 . . . . . 1.0E-255 . . . . . . . . . -1.134 . 0.004 . . rs146397482 rs146397482 1 1538 10 1/0 0,255,255 +rs535087360 (chr7:128524915 A/C) 7 128524915 A C Not on a known gene +rs143525584 (chr7:128525371 A/T) 7 128525371 A T Not on a known gene +. (chr7:128533514 T/TC) 7 128533514 T TC Not on a known gene +rs113806178 7 128587374 G A - IRF5 6120 Interferon regulatory factor 5 NM_001098629.2 1 2893 1545 NP_001092099.1 substitution missense exon GRCh37 128587374 128587374 Chr7(GRCh37):g.128587374G>A 572 572 NM_001098629.2:c.572G>A p.Arg191Gln p.Arg191Gln 6 607218 91 3' 74.6537 8.39692 0.691759 3.79609 74.6537 8.39692 0.691759 3.79609 0 New Acceptor Site 128587376 4.30521 0.079254 75.7379 rs113806178 yes no Frequency/1000G 2 G 0.000000 0 0.000035 0.000000 0.000030 0.000000 0.000055 0.000067 0.000035 0.000041 0.000000 0.000067 9 0 1 0 1 2 4 1 0 258258 22246 33370 9570 18194 29740 114680 24376 6082 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 1 0 1 2 4 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1319028|COSM1319028|COSM1319028|COSM1319028|COSM1319028 Thyroid|Ovary|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system 0.002677|0.001179|0.012102|0.000556|0.000416 747|848|2231|3598|2405 transition G A G>A 0.118 -1.489 R Arg CGG 0.207 Q Gln CAG 0.744 191 12 2 Chimp 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Deleterious 0 IV.32 195 PASS 0.32 0.29 0.24 0.26 0.31 . . . . . . . . . . . 0.125 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.061 . @ . . . . . 1 0.101 . . 48.0 . . . . . . . . . . -1.8335 -1.901 -1.833 c . . . . . . . . . 0 0.0002 0.0002 0.0008 0 0 0 0.0005 0 0.0002 0.0002 0.0006 0 0 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.972 . . exonic exonic exonic . . . @ . ENSG00000128604.14|ENSG00000128604.14|ENSG00000128604.14|ENSG00000128604.14 Artery_Tibial|Colon_Transverse|Nerve_Tibial|Whole_Blood 0.39 0.61 182 ENSG00000128604 IRF5 IRF5 . . . 0.992 0.327 . . . . . . . Uncertain_significance . 0 . 0.002 . . . . D 0.893 0.256 . . 37 . 0.000 . . 0.613 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.124 . . . . . . . 0.175 . LowAF 0.58 rs113806178 0.065 0.051 . . . . . 0.2875457875457875 0.3150406504065041 0.2430939226519337 0.25874125874125875 0.31266490765171506 . 0.196 . . . . 0.590000 . . . . . . 0.101 . . . 0 3.514e-05 3.074e-05 0 6.027e-05 4.782e-05 3.005e-05 0 6.725e-05 0 3.266e-05 0 0 0 0 6.739e-05 0 . . 0.406 . -1.505 -1.505000 . . 0.590000 . . 9.999999999999999E-196 0.038 0.207 . 0.176 0.021 . 0.025 . 0.012 -1.505 -0.628 0.32 . . rs113806178 rs113806178 1 1538 10 1.I 0,0,0 +rs149194697 (chr7:128802894 T/C) 7 128802894 T C Not on a known gene +rs372339905 7 129845149 C T - TMEM209 21898 Transmembrane protein 209 NM_032842.3 -1 3545 1686 NP_116231.2 Q96SK2 substitution intron GRCh37 129845149 129845149 Chr7(GRCh37):g.129845149C>T 3+64 3+64 NM_032842.3:c.3+64G>A p.? p.? 1 1 64 5' 76.0346 8.26729 0.572753 5.63989 76.0346 8.26729 0.572753 5.90698 0 rs372339905 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.003939 0.000343 0.000000 0.003311 0.000000 0.000000 0.006598 0.004296 0.004073 0.006598 122 3 0 1 0 0 99 15 4 30974 8734 838 302 1622 0 15004 3492 982 0.008197 0.000000 0.000000 0.000000 0.000000 0.000000 0.010101 0.000000 0.000000 1 0 0 0 0 0 1 0 0 120 3 0 1 0 0 97 15 4 0 0 0 0 0 0 0 0 0 PASS 42 Genomes 3172 1382 4554 10 2 12 0.00314268 0.00144509 0.00262812 0.00314268 0.00144509 0.00262812 115 transition G A G>A 0.000 -0.360 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.46464646 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . 0.0014 0.0026 0.0031 0.0014 0.0026 0.0031 . I.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . 0.0002 . . . 0.66 0.31 182 ENSG00000240571 TMEM209 TMEM209 . . . . . . 155 0.0023855 64976 154 0.00256727 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372339905 . . . . . . . . . . . . . . . . . . . . . . . 0.002628 . . . . . . . . . . . . . . 0.0003 0.0039 0 0.0033 0 0.0043 0.0066 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0031 . . rs372339905 rs372339905 1 1538 10 1/0 0,255,255 +rs527373566 7 129945580 G A - CPA4 15740 Carboxypeptidase A4 NM_016352.3 1 2817 1266 NP_057436.2 Q9UI42 substitution intron GRCh37 129945580 129945580 Chr7(GRCh37):g.129945580G>A 487-76 487-76 NM_016352.3:c.487-76G>A p.? p.? 6 5 607635 -76 3' 83.6826 11.1716 0.962277 XI.55 83.6826 11.1716 0.962277 11.0605 0 rs527373566 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.003680 0.000229 0.000000 0.000000 0.000000 0.000000 0.006396 0.003436 0.004073 0.006396 114 2 0 0 0 0 96 12 4 30976 8730 838 302 1622 0 15010 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 114 2 0 0 0 0 96 12 4 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.906 1.820 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.5217391 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 1.1105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000128510 CPA4 CPA4 . . . . . . 81 0.00124661 64976 80 0.00133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs527373566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.62 . . . . . . . . . 0.0002 0.0037 0 0 0 0.0034 0.0064 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 134612759 G GT - CALD1 1441 Caldesmon 1 NM_033138.3 1 5232 2382 NP_149129.2 Q05682 duplication intron GRCh37 134612761 134612762 Chr7(GRCh37):g.134612761dup 72-744 72-744 NM_033138.3:c.72-744dup p.? p.? 4 3 114213 -743 3' 83.5423 8.67854 0.368113 7.26705 83.5423 8.67854 0.368113 7.26705 0 rs11438725 yes no Frequency/1000G 2 0.000000 0 0.999201 0.999200 0.999000 1.000000 0.998000 1.000000 0.999976 1.000000 0.999814 1.000000 1.000000 1.000000 0.999975 1.000000 1.000000 1.000000 83010 9378 5385 5016 2500 9884 40653 7828 2366 83012 9378 5386 5016 2500 9884 40654 7828 2366 0.999952 1.000000 0.999629 1.000000 1.000000 1.000000 0.999951 1.000000 1.000000 41504 4689 2692 2508 1250 4942 20326 3914 1183 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes T 255 Pass . . . . . 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29 . . . . . . . . . . . . . . . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000122786 CALD1 CALD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11438725 0.109 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 1 1.0000 0.9984 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.11 . rs58197245 rs11438725 rs11438725 1 1538 255 1.I 0,0,255 +rs34585297 7 138269570 G T - TRIM24 11812 Tripartite motif-containing 24 NM_015905.2 1 4005 3153 NP_056989.2 O15164 substitution missense exon GRCh37 138269570 138269570 Chr7(GRCh37):g.138269570G>T 3027 3027 NM_015905.2:c.3027G>T p.Arg1009Ser p.Arg1009Ser 19 603406 84 3' 88.4896 9.61864 0.909976 3.27788 88.4896 9.61864 0.909976 3.27788 0 Cryptic Acceptor Strongly Activated 138269584 1.70892 0.002547 76.0836 2.23552 0.009388 81.2662 rs34585297 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.002622 0.001208 0.003260 0.000099 0.000000 0.001536 0.003877 0.000698 0.004340 0.003877 725 29 112 1 0 47 490 18 28 276556 24002 34352 10132 18830 30604 126402 25782 6452 0.000022 0.000000 0.000000 0.000000 0.000000 0.000065 0.000032 0.000000 0.000000 3 0 0 0 0 1 2 0 0 719 29 112 1 0 45 486 18 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8571 4397 12968 27 3 30 0.00314027 0.000681818 0.00230805 0.00314027 0.000681818 0.00230805 53 COSM88015|COSM88016 Central nervous system|Central nervous system 0.000407|0.000407 2460|2460 transversion G T G>T 0.291 -0.037 R Arg AGG 0.207 S Ser AGT 0.149 1009 11 7 Mouse -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 243.06 21.IV Tolerated 0.06 III.44 good 4.76E-2 0.01422 255 PASS . 0.0009 . . 0.0026 . 0.0008 . . 0.004 . . . . . . 0.6111111 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.261 . @ . . . . . 1 0.262 . . 18.0 . . . 0.0007 0.0023 0.0031 0.0007 0.0023 0.0031 . -0.5675 -0.440 -0.567 c . . . . . 2.439e-03 . . . 0.0011 0.0023 0.0026 0 0.0005 0.0033 0.0042 0.0015 0.0013 0.0025 0.0025 0 0.0006 0.0035 0.0044 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.759 . . exonic exonic exonic . . 0.294 0.0008 . . . 0.5 0.35 182 ENSG00000122779 TRIM24 TRIM24 . . . 0.618 0.218 . 136 0.00209308 64976 132 0.00220051 59986 Uncertain_significance . 0 . 0.330 . . . . T 0.397 0.018 . . 37 . 0.556 . . 0.485 . . . 0.124 0.286 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.129 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 0.180 . . . . . 0.369 . 0.241 . HET 0.12 rs34585297 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IX.16 8.04E-4 . V.85 II.52 . 0.310000 . . . . 0.002308 . 0.187 . . II.52 0.0011 0.0026 0.0031 0.0001 0 0.0007 0.0038 0.0037 0.0015 0.0014 0.0029 0.0084 0 0 0.0006 0.0041 0.0082 . . 0.522 . 0.746 0.746000 . . 0.310000 . . 1.0E-255 0.081 0.222 . 0.653 0.984 . 0.163 . 0.213 0.746 0.069 0.0031 rs34585297 rs34585297 rs34585297 rs34585297 1 1538 10 1/0 0,255,255 +rs371453843 (chr7:142008534 C/T) 7 142008534 C T Not on a known gene +rs375410790 (chr7:142008535 G/A) 7 142008535 G A Not on a known gene +rs368645176 (chr7:142008536 T/C) 7 142008536 T C Not on a known gene +rs561888315 (chr7:142008635 C/A) 7 142008635 C A Not on a known gene +rs756720602 (chr7:142008636 G/A) 7 142008636 G A Not on a known gene +rs755222580 (chr7:142008638 C/G) 7 142008638 C G Not on a known gene +rs779263913 (chr7:142008639 A/G) 7 142008639 A G Not on a known gene +. (chr7:142032393 G/C) 7 142032393 G C Not on a known gene +rs760071537 (chr7:142032394 G/A) 7 142032394 G A Not on a known gene +. (chr7:142032395 A/G) 7 142032395 A G Not on a known gene +. (chr7:142032400 G/C) 7 142032400 G C Not on a known gene +rs758775853 (chr7:142032411 G/A) 7 142032411 G A Not on a known gene +. (chr7:142032417 T/G) 7 142032417 T G Not on a known gene +rs781407641 (chr7:142032421 C/A) 7 142032421 C A Not on a known gene +. (chr7:142032429 G/C) 7 142032429 G C Not on a known gene +rs78118526 (chr7:142032646 G/A) 7 142032646 G A Not on a known gene +rs552355858 (chr7:142119877 G/T) 7 142119877 G T Not on a known gene +. (chr7:142119878 T/C) 7 142119878 T C Not on a known gene +. (chr7:142119882 A/G) 7 142119882 A G Not on a known gene +. (chr7:142119998 C/T) 7 142119998 C T Not on a known gene +. (chr7:142120003 T/C) 7 142120003 T C Not on a known gene +. (chr7:142120005 A/G) 7 142120005 A G Not on a known gene +. (chr7:142120016 G/GGC) 7 142120016 G GGC Not on a known gene +. (chr7:142120021 G/GTGTT) 7 142120021 G GTGTT Not on a known gene +. (chr7:142120023 ATGACTC/A) 7 142120023 ATGACTC A Not on a known gene +rs368651804 (chr7:142120049 G/A) 7 142120049 G A Not on a known gene +rs768713788 (chr7:142120058 C/T) 7 142120058 C T Not on a known gene +rs758694947 (chr7:142131831 G/A) 7 142131831 G A Not on a known gene +rs776911163 (chr7:142139315 G/C) 7 142139315 G C Not on a known gene +rs766315958 (chr7:142139335 G/T) 7 142139335 G T Not on a known gene +. (chr7:142139336 T/C) 7 142139336 T C Not on a known gene +rs754756268 (chr7:142139339 G/A) 7 142139339 G A Not on a known gene +. (chr7:142139340 A/G) 7 142139340 A G Not on a known gene +rs771383943 (chr7:142139349 G/A) 7 142139349 G A Not on a known gene +. (chr7:142139357 C/T) 7 142139357 C T Not on a known gene +rs776576104 (chr7:142139383 T/C) 7 142139383 T C Not on a known gene +. (chr7:142139386 G/A) 7 142139386 G A Not on a known gene +. (chr7:142139393 C/T) 7 142139393 C T Not on a known gene +rs865799401 (chr7:142143839 G/A) 7 142143839 G A Not on a known gene +rs764375904 (chr7:142197962 G/T) 7 142197962 G T No Alamut gene - other known genes: TRBV11-2 TRBV11-2 +rs796725387 (chr7:142197964 T/C) 7 142197964 T C No Alamut gene - other known genes: TRBV11-2 TRBV11-2 +rs796830862 (chr7:142197965 C/A) 7 142197965 C A No Alamut gene - other known genes: TRBV11-2 TRBV11-2 +rs776089634 (chr7:142223949 A/G) 7 142223949 A G Not on a known gene +rs764528462 (chr7:142223951 A/T) 7 142223951 A T Not on a known gene +rs774802249 (chr7:142223952 C/T) 7 142223952 C T Not on a known gene +. (chr7:142223953 T/C) 7 142223953 T C Not on a known gene +rs796420354 (chr7:142224021 G/T) 7 142224021 G T Not on a known gene +rs797007401 (chr7:142224022 C/T) 7 142224022 C T Not on a known gene +rs796152597 (chr7:142224023 A/G) 7 142224023 A G Not on a known gene +. (chr7:142224209 T/G) 7 142224209 T G Not on a known gene +rs796750138 (chr7:142224215 A/T) 7 142224215 A T Not on a known gene +rs757581257 (chr7:142224235 G/C) 7 142224235 G C Not on a known gene +rs757384002 (chr7:142231794 C/T) 7 142231794 C T Not on a known gene +rs371921343 (chr7:142231795 G/C) 7 142231795 G C Not on a known gene +. (chr7:142231796 C/T) 7 142231796 C T Not on a known gene +. (chr7:142231799 A/G) 7 142231799 A G Not on a known gene +. (chr7:142231800 G/A) 7 142231800 G A Not on a known gene +. (chr7:142242299 G/A) 7 142242299 G A Not on a known gene +. (chr7:142242300 A/G) 7 142242300 A G Not on a known gene +rs761309706 (chr7:142242309 C/T) 7 142242309 C T Not on a known gene +rs760735453 (chr7:142242603 A/T) 7 142242603 A T Not on a known gene +rs762758399 (chr7:142242607 C/G) 7 142242607 C G Not on a known gene +rs749994557 (chr7:142242616 T/C) 7 142242616 T C Not on a known gene +rs755666140 (chr7:142242617 G/A) 7 142242617 G A Not on a known gene +. (chr7:142242631 G/A) 7 142242631 G A Not on a known gene +. (chr7:142242632 T/G) 7 142242632 T G Not on a known gene +rs762728201 (chr7:142247497 G/C) 7 142247497 G C Not on a known gene +. (chr7:142247503 G/GT) 7 142247503 G GT Not on a known gene +rs375261945 7 142460148 T C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460148 142460148 Chr7(GRCh37):g.142460148T>C 497-134 497-134 ENST00000486171.1:c.497-134T>C p.? p.? 5 4 276000 -134 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.51 0 rs375261945 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.003800 0.000000 0.000000 0.000000 0.000000 transition T C T>C 0.000 -1.328 255 PASS . . . . . 0.0038 0.001 . . . . . . . . . 0.33050847 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0010 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375261945 rs375261945 1 1538 10 1/0 0,237,255 +rs375261945 7 142460148 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460148 142460148 Chr7(GRCh37):g.142460148T>C 497-134 497-134 NM_001303414.1:c.497-134T>C p.? p.? 5 4 601564 -134 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.81 0 rs375261945 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.003800 0.000000 0.000000 0.000000 0.000000 transition T C T>C 0.000 -1.328 255 PASS . . . . . 0.0038 0.001 . . . . . . . . . 0.33050847 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0010 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375261945 rs375261945 1 1538 10 1/0 0,237,255 +rs769606409 7 142460167 C T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460167 142460167 Chr7(GRCh37):g.142460167C>T 497-115 497-115 ENST00000486171.1:c.497-115C>T p.? p.? 5 4 276000 -115 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.51 0 Cryptic Acceptor Weakly Activated 142460183 2.90326 0.820251 3.15299 0.851827 rs769606409 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.34246576 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs769606409 7 142460167 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460167 142460167 Chr7(GRCh37):g.142460167C>T 497-115 497-115 NM_001303414.1:c.497-115C>T p.? p.? 5 4 601564 -115 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.81 0 Cryptic Acceptor Weakly Activated 142460183 2.90326 0.820251 3.15299 0.851827 rs769606409 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.34246576 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs779389180 7 142460187 T A - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460187 142460187 Chr7(GRCh37):g.142460187T>A 497-95 497-95 ENST00000486171.1:c.497-95T>A p.? p.? 5 4 276000 -95 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.51 0 rs779389180 no no 0 T 0.000000 0 transversion T A T>A 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.3618421 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 152.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,254 +rs779389180 7 142460187 T A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460187 142460187 Chr7(GRCh37):g.142460187T>A 497-95 497-95 NM_001303414.1:c.497-95T>A p.? p.? 5 4 601564 -95 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.81 0 rs779389180 no no 0 T 0.000000 0 transversion T A T>A 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.3618421 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 152.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,254 +rs757387453 7 142460201 G A - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460201 142460201 Chr7(GRCh37):g.142460201G>A 497-81 497-81 ENST00000486171.1:c.497-81G>A p.? p.? 5 4 276000 -81 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.23 0 rs757387453 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.279 242 PASS . . . . . . . . . . . . . . . . 0.27807486 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,253 +rs757387453 7 142460201 G A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460201 142460201 Chr7(GRCh37):g.142460201G>A 497-81 497-81 NM_001303414.1:c.497-81G>A p.? p.? 5 4 601564 -81 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.53 0 rs757387453 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.279 242 PASS . . . . . . . . . . . . . . . . 0.27807486 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,253 +rs767525211 7 142460203 T G - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460203 142460203 Chr7(GRCh37):g.142460203T>G 497-79 497-79 ENST00000486171.1:c.497-79T>G p.? p.? 5 4 276000 -79 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.99 0 rs767525211 no no 0 G 0.000000 0 transversion T G T>G 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.39593908 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,243 +rs767525211 7 142460203 T G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460203 142460203 Chr7(GRCh37):g.142460203T>G 497-79 497-79 NM_001303414.1:c.497-79T>G p.? p.? 5 4 601564 -79 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.28 0 rs767525211 no no 0 G 0.000000 0 transversion T G T>G 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.39593908 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,243 +rs879062448 7 142460207 C T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460207 142460207 Chr7(GRCh37):g.142460207C>T 497-75 497-75 ENST00000486171.1:c.497-75C>T p.? p.? 5 4 276000 -75 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.35 0 Cryptic Acceptor Weakly Activated 142460215 3.78476 0.401037 77.7538 4.01078 0.425418 79.5636 rs879062448 no no 0 C 0.000000 0 transition C T C>T 0.000 -2.054 179 PASS . . . . . . . . . . . . . . . . 0.11004785 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,195,255 +rs879062448 7 142460207 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460207 142460207 Chr7(GRCh37):g.142460207C>T 497-75 497-75 NM_001303414.1:c.497-75C>T p.? p.? 5 4 601564 -75 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 12.0565 0 Cryptic Acceptor Weakly Activated 142460215 3.78476 0.401037 77.7538 4.01078 0.425418 79.5636 rs879062448 no no 0 C 0.000000 0 transition C T C>T 0.000 -2.054 179 PASS . . . . . . . . . . . . . . . . 0.11004785 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,195,255 +rs777861053 7 142460212 A T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460212 142460212 Chr7(GRCh37):g.142460212A>T 497-70 497-70 ENST00000486171.1:c.497-70A>T p.? p.? 5 4 276000 -70 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.58 0 Cryptic Acceptor Strongly Activated 142460215 3.78476 0.401037 77.7538 7.42482 0.9589 81.5444 rs777861053 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41203704 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 216.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.3412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,240 +rs777861053 7 142460212 A T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460212 142460212 Chr7(GRCh37):g.142460212A>T 497-70 497-70 NM_001303414.1:c.497-70A>T p.? p.? 5 4 601564 -70 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 12.083 0 Cryptic Acceptor Strongly Activated 142460215 3.78476 0.401037 77.7538 7.42482 0.9589 81.5444 rs777861053 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41203704 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 216.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.3412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,240 +rs549425727 7 142460216 T C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460216 142460216 Chr7(GRCh37):g.142460216T>C 497-66 497-66 ENST00000486171.1:c.497-66T>C p.? p.? 5 4 276000 -66 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.39 0 rs549425727 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000000 0.004100 0.000000 0.000000 0.000000 transition T C T>C 0.000 -0.279 250 PASS . . . . . . 0.0008 . . . 0.0041 . . . . . 0.30454546 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 220.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.0518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0008 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,251 +rs549425727 7 142460216 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460216 142460216 Chr7(GRCh37):g.142460216T>C 497-66 497-66 NM_001303414.1:c.497-66T>C p.? p.? 5 4 601564 -66 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.68 0 rs549425727 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000000 0.004100 0.000000 0.000000 0.000000 transition T C T>C 0.000 -0.279 250 PASS . . . . . . 0.0008 . . . 0.0041 . . . . . 0.30454546 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 220.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.0518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0008 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,251 +rs770654296 7 142460226 C T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460226 142460226 Chr7(GRCh37):g.142460226C>T 497-56 497-56 ENST00000486171.1:c.497-56C>T p.? p.? 5 4 276000 -56 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.12 0 rs770654296 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.46456692 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 254.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.1276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,233 +rs770654296 7 142460226 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460226 142460226 Chr7(GRCh37):g.142460226C>T 497-56 497-56 NM_001303414.1:c.497-56C>T p.? p.? 5 4 601564 -56 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.41 0 rs770654296 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.46456692 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 254.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.1276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,233 +rs749152254 7 142460238 G A - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460238 142460238 Chr7(GRCh37):g.142460238G>A 497-44 497-44 ENST00000486171.1:c.497-44G>A p.? p.? 5 4 276000 -44 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 11.1728 0 rs749152254 yes no Frequency 1 G 0.000000 0 0.000376 0.001401 0.000127 0.001281 0.000328 0.000064 0.000377 0.000349 0.000394 0.001401 40 9 2 4 4 1 17 2 1 106356 6422 15724 3122 12178 15538 45102 5734 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 9 2 4 4 1 17 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.44673538 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 291.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2289 . . . . . . . . 5.676e-03 . . . 0.0289 0.0163 0.0218 0.0141 0.0369 0.0215 0.0189 0.0040 0.0371 0.0201 0.0228 0.0114 0.0381 0.0318 0.0147 0.0040 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 6.387e-05 0.0014 0 0 0.0001 0 6.436e-05 0.0634 0.0045 0.0152 0 0.2222 0.3333 0.0021 0.0068 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,208,229 +rs749152254 7 142460238 G A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460238 142460238 Chr7(GRCh37):g.142460238G>A 497-44 497-44 NM_001303414.1:c.497-44G>A p.? p.? 5 4 601564 -44 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.58 0 rs749152254 yes no Frequency 1 G 0.000000 0 0.000376 0.001401 0.000127 0.001281 0.000328 0.000064 0.000377 0.000349 0.000394 0.001401 40 9 2 4 4 1 17 2 1 106356 6422 15724 3122 12178 15538 45102 5734 2536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 9 2 4 4 1 17 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.44673538 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 291.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2289 . . . . . . . . 5.676e-03 . . . 0.0289 0.0163 0.0218 0.0141 0.0369 0.0215 0.0189 0.0040 0.0371 0.0201 0.0228 0.0114 0.0381 0.0318 0.0147 0.0040 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 6.387e-05 0.0014 0 0 0.0001 0 6.436e-05 0.0634 0.0045 0.0152 0 0.2222 0.3333 0.0021 0.0068 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,208,229 +. 7 142460248 TCTA T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 deletion intron GRCh37 142460251 142460253 Chr7(GRCh37):g.142460251_142460253del 497-31 497-29 ENST00000486171.1:c.497-31_497-29del p.? p.? 5 4 276000 -29 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 X.92 0 rs371688105 no no 0 0.000000 0 ACT 255 Pass . . . . . . . . . . . . . . . . 0.4620462 . . . 140 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 303 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371688105 rs371688105 1 1538 10 1.I 0,12,34 +. 7 142460248 TCTA T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 deletion intron GRCh37 142460251 142460253 Chr7(GRCh37):g.142460251_142460253del 497-31 497-29 NM_001303414.1:c.497-31_497-29del p.? p.? 5 4 601564 -29 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.22 0 rs371688105 no no 0 0.000000 0 ACT 255 Pass . . . . . . . . . . . . . . . . 0.4620462 . . . 140 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 303 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371688105 rs371688105 1 1538 10 1.I 0,12,34 +rs754595466 7 142460255 C T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460255 142460255 Chr7(GRCh37):g.142460255C>T 497-27 497-27 ENST00000486171.1:c.497-27C>T p.? p.? 5 4 276000 -27 3' 79.2603 7.72347 0.387084 XI.51 79.2603 7.72347 0.387084 XI.17 0 rs754595466 yes no Frequency 1 T 0.000000 0 0.003967 0.001791 0.002446 0.012429 0.000429 0.003167 0.004847 0.007705 0.001709 0.012429 471 15 44 48 5 48 249 57 5 118744 8376 17988 3862 11662 15156 51376 7398 2926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 471 15 44 48 5 48 249 57 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.47118643 . . @ 139 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 295.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4661 . . . . . . . . 1.684e-05 . . . 0 6.651e-05 0 0 0 0 0 0.0003 0 0.0001 0 0 0 0.0002 0 0.0003 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0041 0.0025 0.0132 0.0003 0.0080 0.0053 0.0019 0.0032 0.0109 0.0026 0 0 0.0024 0.0046 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,210,229 +rs754595466 7 142460255 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460255 142460255 Chr7(GRCh37):g.142460255C>T 497-27 497-27 NM_001303414.1:c.497-27C>T p.? p.? 5 4 601564 -27 3' 79.2603 7.72347 0.387084 XI.81 79.2603 7.72347 0.387084 XI.46 0 rs754595466 yes no Frequency 1 T 0.000000 0 0.003967 0.001791 0.002446 0.012429 0.000429 0.003167 0.004847 0.007705 0.001709 0.012429 471 15 44 48 5 48 249 57 5 118744 8376 17988 3862 11662 15156 51376 7398 2926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 471 15 44 48 5 48 249 57 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.47118643 . . @ 139 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 295.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4661 . . . . . . . . 1.684e-05 . . . 0 6.651e-05 0 0 0 0 0 0.0003 0 0.0001 0 0 0 0.0002 0 0.0003 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0041 0.0025 0.0132 0.0003 0.0080 0.0053 0.0019 0.0032 0.0109 0.0026 0 0 0.0024 0.0046 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,210,229 +rs796982044 7 142460482 G T - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460482 142460482 Chr7(GRCh37):g.142460482G>T 633+64 633+64 ENST00000486171.1:c.633+64G>T p.? p.? 5 5 276000 64 5' 83.2449 5.94804 0.211811 2.77472 83.2449 5.94804 0.211811 2.62999 0 Cryptic Acceptor Strongly Activated 142460499 0.001291 71.7265 1.44111 0.005909 71.7265 rs796982044 no no 0 A 0.000000 0 transversion G T G>T 0.000 -1.086 146 PASS . . . . . . . . . . . . . . . . 0.1294964 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.3648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs796982044 7 142460482 G T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460482 142460482 Chr7(GRCh37):g.142460482G>T 633+64 633+64 NM_001303414.1:c.633+64G>T p.? p.? 5 5 601564 64 5' 83.2449 5.94804 0.276096 4.59045 83.2449 5.94804 0.276096 4.44573 0 Cryptic Acceptor Strongly Activated 142460499 0.001291 71.7265 1.44111 0.005909 71.7265 rs796982044 no no 0 A 0.000000 0 transversion G T G>T 0.000 -1.086 146 PASS . . . . . . . . . . . . . . . . 0.1294964 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.3648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs564920652 7 142460494 A C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460494 142460494 Chr7(GRCh37):g.142460494A>C 633+76 633+76 ENST00000486171.1:c.633+76A>C p.? p.? 5 5 276000 76 5' 83.2449 5.94804 0.211811 2.77472 83.2449 5.94804 0.211811 2.92515 0 Cryptic Acceptor Strongly Activated 142460499 0.001291 71.7265 I.61 0.028552 74.771 rs564920652 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 transversion A C A>C 0.000 -0.279 192 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.13953489 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0002 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs564920652 7 142460494 A C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460494 142460494 Chr7(GRCh37):g.142460494A>C 633+76 633+76 NM_001303414.1:c.633+76A>C p.? p.? 5 5 601564 76 5' 83.2449 5.94804 0.276096 4.59045 83.2449 5.94804 0.276096 4.74088 0 Cryptic Acceptor Strongly Activated 142460499 0.001291 71.7265 I.61 0.028552 74.771 rs564920652 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 transversion A C A>C 0.000 -0.279 192 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.13953489 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . 0.0002 . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs879215460 7 142460495 A C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460495 142460495 Chr7(GRCh37):g.142460495A>C 633+77 633+77 ENST00000486171.1:c.633+77A>C p.? p.? 5 5 276000 77 5' 83.2449 5.94804 0.211811 2.77472 83.2449 5.94804 0.211811 2.99956 0 rs879215460 no no 0 A 0.000000 0 transversion A C A>C 0.000 0.125 205 PASS . . . . . . . . . . . . . . . . 0.17213115 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs879215460 7 142460495 A C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460495 142460495 Chr7(GRCh37):g.142460495A>C 633+77 633+77 NM_001303414.1:c.633+77A>C p.? p.? 5 5 601564 77 5' 83.2449 5.94804 0.276096 4.59045 83.2449 5.94804 0.276096 IV.53 0 rs879215460 no no 0 A 0.000000 0 transversion A C A>C 0.000 0.125 205 PASS . . . . . . . . . . . . . . . . 0.17213115 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.2719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs879135778 7 142460503 T C - PRSS1 9475 Protease, serine 1 ENST00000486171.1 1 803 786 ENSP00000417854 substitution intron GRCh37 142460503 142460503 Chr7(GRCh37):g.142460503T>C 633+85 633+85 ENST00000486171.1:c.633+85T>C p.? p.? 5 5 276000 85 5' 83.2449 5.94804 0.211811 2.77472 83.2449 5.94804 0.211811 2.77472 0 rs879135778 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.279 194 PASS . . . . . . . . . . . . . . . . 0.14516129 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs879135778 7 142460503 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution intron GRCh37 142460503 142460503 Chr7(GRCh37):g.142460503T>C 633+85 633+85 NM_001303414.1:c.633+85T>C p.? p.? 5 5 601564 85 5' 83.2449 5.94804 0.276096 4.59045 83.2449 5.94804 0.276096 4.59045 0 rs879135778 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.279 194 PASS . . . . . . . . . . . . . . . . 0.14516129 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . INTRON(MODIFIER||||PRSS1|mRNA|CODING|NM_002769|) . . . . . . . -0.4448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . . . . ENSG00000204983 TCRVB PRSS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 7 142470607 A T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470607 142470607 Chr7(GRCh37):g.142470607A>T *9736 *9736 NM_001303414.1:c.*9736A>T p.? p.? 6 601564 9889 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 Cryptic Acceptor Strongly Activated 142470614 1.43286 0.001223 76.5978 2.35808 0.024437 81.5988 rs1038418871 no no 0 A 0.000000 0 transversion A T A>T 0.000 -0.521 207 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 170.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9680\x3bdist\x3d8150 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +rs367807406 7 142470612 A G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470612 142470612 Chr7(GRCh37):g.142470612A>G *9741 *9741 NM_001303414.1:c.*9741A>G p.? p.? 6 601564 9894 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs367807406 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 transition A G A>G 0.000 -1.489 217 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.20555556 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 180.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0002 . . . . . . ENSG00000250591 . . . . dist\x3d9685\x3bdist\x3d8145 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs367807406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs367807406 rs367807406 1 1538 10 1/0 0,210,255 +. 7 142470614 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470614 142470614 Chr7(GRCh37):g.142470614C>T *9743 *9743 NM_001303414.1:c.*9743C>T p.? p.? 6 601564 9896 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs994288940 no no 0 C 0.000000 0 transition C T C>T 0.291 0.528 208 PASS . . . . . . . . . . . . . . . . 0.17934783 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 184.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9687\x3bdist\x3d8143 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs368963025 7 142470645 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470645 142470645 Chr7(GRCh37):g.142470645T>C *9774 *9774 NM_001303414.1:c.*9774T>C p.? p.? 6 601564 9927 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs368963025 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 transition T C T>C 0.000 -0.279 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.37435898 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 195.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0002 . . . . . . ENSG00000250591 . . . . dist\x3d9718\x3bdist\x3d8112 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs368963025 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs368963025 rs368963025 1 1538 10 1/0 0,222,255 +rs375588069 7 142470646 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470646 142470646 Chr7(GRCh37):g.142470646T>C *9775 *9775 NM_001303414.1:c.*9775T>C p.? p.? 6 601564 9928 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs375588069 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 transition T C T>C 0.000 -1.651 209 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.18181819 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 198.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0002 . . . . . . ENSG00000250591 . . . . dist\x3d9719\x3bdist\x3d8111 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.57 rs375588069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs375588069 rs375588069 1 1538 10 1/0 0,204,255 +rs547733540 7 142470686 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470686 142470686 Chr7(GRCh37):g.142470686T>C *9815 *9815 NM_001303414.1:c.*9815T>C p.? p.? 6 601564 9968 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs547733540 yes no Frequency/1000G 2 T 0.000000 0 transition T C T>C 0.000 0.367 241 PASS . . . . . . . . . . . . . . . . 0.27741936 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 155.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0004 . . . . . . ENSG00000250591 . . . . dist\x3d9759\x3bdist\x3d8071 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs878939011 7 142470687 G A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470687 142470687 Chr7(GRCh37):g.142470687G>A *9816 *9816 NM_001303414.1:c.*9816G>A p.? p.? 6 601564 9969 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs878939011 no no 0 G 0.000000 0 transition G A G>A 0.000 -3.749 239 PASS . . . . . . . . . . . . . . . . 0.26923078 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 156.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9760\x3bdist\x3d8070 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs10952531 7 142470691 G C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470691 142470691 Chr7(GRCh37):g.142470691G>C *9820 *9820 NM_001303414.1:c.*9820G>C p.? p.? 6 601564 9973 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs10952531 yes no Frequency/1000G 2 G 0.000000 0 0.323682 0.090800 0.328200 0.232100 0.588500 0.510100 transversion G C G>C 0.992 2.465 255 PASS 0.1 0.31 0.43 0.23 0.46 0.091 0.32 0.51 0.23 0.59 0.33 . . . . . 0.35099337 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.3237 . . . 0.19 0.27 182 ENSG00000250591 . . . . dist\x3d9764\x3bdist\x3d8066 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . 0.315 0.420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs10952531 rs10952531 rs10952531 rs10952531 1 1538 10 1/0 0,232,255 +rs879207249 7 142470693 T C - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470693 142470693 Chr7(GRCh37):g.142470693T>C *9822 *9822 NM_001303414.1:c.*9822T>C p.? p.? 6 601564 9975 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs879207249 no no 0 T 0.000000 0 transition T C T>C 0.000 -2.539 244 PASS . . . . . . . . . . . . . . . . 0.28476822 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9766\x3bdist\x3d8064 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 7 142470694 G A - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470694 142470694 Chr7(GRCh37):g.142470694G>A *9823 *9823 NM_001303414.1:c.*9823G>A p.? p.? 6 601564 9976 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs967092116 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.198 213 PASS . . . . . . . . . . . . . . . . 0.19205298 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9767\x3bdist\x3d8063 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs375249350 7 142470708 C T - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470708 142470708 Chr7(GRCh37):g.142470708C>T *9837 *9837 NM_001303414.1:c.*9837C>T p.? p.? 6 601564 9990 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs375249350 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 transition C T C>T 0.000 -0.360 210 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.18461539 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 130.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0002 . . . . . . ENSG00000250591 . . . . dist\x3d9781\x3bdist\x3d8049 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs375249350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs375249350 rs375249350 1 1538 10 1/0 0,223,255 +rs879177965 7 142470709 A G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470709 142470709 Chr7(GRCh37):g.142470709A>G *9838 *9838 NM_001303414.1:c.*9838A>G p.? p.? 6 601564 9991 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs879177965 no no 0 G 0.000000 0 transition A G A>G 0.197 1.093 246 PASS . . . . . . . . . . . . . . . . 0.2913386 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 127.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9782\x3bdist\x3d8048 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.72 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +rs879125955 7 142470715 A G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470715 142470715 Chr7(GRCh37):g.142470715A>G *9844 *9844 NM_001303414.1:c.*9844A>G p.? p.? 6 601564 9997 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs879125955 no no 0 A 0.000000 0 transition A G A>G 0.000 -1.409 174 PASS . . . . . . . . . . . . . . . . 0.10169491 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 118.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9788\x3bdist\x3d8042 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs879052497 7 142470726 A G - PRSS2 9483 Protease, serine 2 NM_001303414.1 1 882 786 NP_001290343.1 substitution downstream GRCh37 142470726 142470726 Chr7(GRCh37):g.142470726A>G *9855 *9855 NM_001303414.1:c.*9855A>G p.? p.? 6 601564 10008 3' 89.3458 11.399 0.995415 16.5853 89.3458 11.399 0.995415 16.5853 0 rs879052497 no no 0 A 0.000000 0 transition A G A>G 1.000 1.093 244 PASS . . . . . . . . . . . . . . . . 0.28846154 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000250591 . . . . dist\x3d9799\x3bdist\x3d8031 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs797025742 (chr7:142498706 T/A) 7 142498706 T A Not on a known gene +rs371096403 (chr7:142498707 T/C) 7 142498707 T C Not on a known gene +rs373078226 (chr7:142498708 A/C) 7 142498708 A C Not on a known gene +rs563423438 7 143029875 C T - CLCN1 2019 Chloride channel, voltage-sensitive 1 NM_000083.2 1 3093 2967 NP_000074.2 P35523 substitution missense exon GRCh37 143029875 143029875 Chr7(GRCh37):g.143029875C>T 1310 1310 NM_000083.2:c.1310C>T p.Ala437Val p.Ala437Val 12 118425 59 3' 84.4567 X.79 0.959296 14.0021 84.4567 X.79 0.959296 13.833 0 Cryptic Donor Weakly Activated 143029873 65.6992 4.46441 0.383359 72.246 Chloride channel, voltage gated rs563423438 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000150 0.000000 0.000060 0.000000 0.000000 0.001040 0.000027 0.000000 0.000000 0.001040 37 0 2 0 0 32 3 0 0 246236 15302 33580 9850 17248 30782 111688 22300 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 0 2 0 0 32 3 0 0 0 0 0 0 0 0 0 0 0 PASS 168 Exomes transition C T C>T 0.000 -0.117 A Ala GCG 0.107 V Val GTG 0.468 437 15 3 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 278.15 0.00 Tolerated 0.61 III.49 good 9.761E-1 0.544 255 PASS . . . . . . 0.0004 . . . 0.002 ENSG00000188037:ENST00000343257:exon12:c.C1310T:p.A437V CLCN1:uc003wcr.1:exon12:c.C1310T:p.A437V CLCN1:NM_000083:exon12:c.C1310T:p.A437V . . 0.5507246 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 1 0 0 . . . . . . 0.105 . @ . . . . . 1 0.179 . . 69.0 . . . . . . . . . . -1.4746 -1.546 -1.475 c . . . . . 1.736e-04 . . . 0 0.0002 0 0 0 0 0 0.0012 0 0.0002 0 0 0 5.52e-05 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.020 0.0004 . . . . . . ENSG00000188037 CLCN1 CLCN1 . . . 1.000 0.489 . . . . . . . Likely_benign . 0 . 0.016 . . . . D 0.553 0.034 . . 37 . 0.686 . . 0.588 . . . 0.190 0.090 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 1 0.139 . . . . . 0.056 . 0.100 . HET 0.6 rs563423438 . . . . . . . . . . . . 3.0053 . ENST00000343257 V.36 -5.96 . 0.670000 P35523 . . . . . 0.097 . . . 0 0.0002 5.956e-05 0 0 0 2.686e-05 0 0.0010 . . . . . . . . . . 0.246 . -1.297 -1.297000 . . 0.670000 . . 1.0E-255 0.000 0.063 . 0.062 0.604 . 0.097 . 0.049 -1.297 0.021 . . . . . 1 1538 10 1/0 0,255,255 +rs199982689 7 143271208 C T - CTAGE15 37295 CTAGE family, member 15 NM_001008747.2 1 2587 2334 NP_001008747.1 Q86UF2 substitution synonymous exon GRCh37 143271208 143271208 Chr7(GRCh37):g.143271208C>T 2298 2298 NM_001008747.2:c.2298C>T p.His766= p.His766His 1 rs199982689 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.004 -2.781 H His CAC 0.587 H His CAT 0.413 766 220 PASS . . . . . . . . . . . ENSG00000271079:ENST00000420911:exon1:c.C2298T:p.H766H CTAGE15:uc011kth.3:exon1:c.C2298T:p.H766H CTAGE15:NM_001008747:exon1:c.C2298T:p.H766H . . 0.21495327 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H766|CTAGE15|mRNA|CODING|NM_001008747|NM_001008747.ex.1) . . . . . . . -1.0691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.18 182 ENSG00000271079 CTAGE15 CTAGE15 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199982689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs2966644 rs2966644 rs2966644 rs199982689 1 1538 10 1/0 0,233,255 +rs879371183 (chr7:143301670 C/T) 7 143301670 C T Not on a known gene +. 7 143341041 C T - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution intron GRCh37 143341041 143341041 Chr7(GRCh37):g.143341041C>T 22913 22913 NM_001130025.1:c.-15+22928C>T p.? p.? 1 1 616252 22928 5' 83.6222 7.93332 0.981476 9.94117 83.6222 7.93332 0.981476 9.94117 0 transition C T C>T 0.630 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.64285713 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 28.0 . . . . . . . . . . -0.2246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000253882 . TCAF2P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs4725631 rs4725631 1 1538 10 1/0 0,255,255 +. 7 143343890 C G - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution intron GRCh37 143343890 143343890 Chr7(GRCh37):g.143343890C>G 25762 25762 NM_001130025.1:c.-15+25777C>G p.? p.? 1 1 616252 25777 5' 83.6222 7.93332 0.981476 9.94117 83.6222 7.93332 0.981476 9.94117 0 0.007333 0.014381 0.009946 0.000000 0.003546 0.017822 0.004985 0.000000 0.003356 0.017822 69 13 11 0 3 18 23 0 1 9410 904 1106 308 846 1010 4614 324 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 13 11 0 3 18 23 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.000 -4.556 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 37.0 . . . . . . . . . . -1.1131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000253882 LOC154761 TCAF2P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0149 0.0077 0.0100 0 0.0036 0 0.0052 0.0034 0.0178 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs2306873 rs2306873 1 1538 255 1.I 0,0,255 +. 7 143343927 C T - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution intron GRCh37 143343927 143343927 Chr7(GRCh37):g.143343927C>T 25799 25799 NM_001130025.1:c.-15+25814C>T p.? p.? 1 1 616252 25814 5' 83.6222 7.93332 0.981476 9.94117 83.6222 7.93332 0.981476 9.94117 0 Cryptic Acceptor Weakly Activated 143343937 6.60639 0.836469 77.9588 7.03487 0.892168 81.2415 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10314 954 1356 332 912 1332 4930 154 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 63 Exomes transition C T C>T 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.2646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000253882 LOC154761 TCAF2P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0.05 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs2306872 rs2306872 1 1538 10 1/0 0,255,255 +rs2306872 7 143417588 G A - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution missense exon GRCh37 143417588 143417588 Chr7(GRCh37):g.143417588G>A 1436 1436 NM_001130025.1:c.1436G>A p.Arg479Gln p.Arg479Gln 3 616252 -180 5' 84.4974 IX.89 0.976373 4.56408 84.4974 IX.89 0.976373 4.56408 0 rs2306872 yes no Frequency 1 G 0.000000 0 0.000604 0.000338 0.000574 0.000000 0.000603 0.000793 0.000678 0.001435 0.000000 0.001435 22 2 3 0 3 2 10 2 0 36426 5922 5224 620 4974 2522 14744 1394 1026 0.000055 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 0.000000 0.000000 1 0 0 0 0 0 1 0 0 20 2 3 0 3 2 8 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4838153|COSM4838153 Haematopoietic and lymphoid tissue|Cervix 0.000850|0.003040 3530|329 transition G A G>A 0.000 0.044 R Arg CGG 0.207 Q Gln CAG 0.744 479 12 6 Platypus 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 138.33 0.00 Tolerated 0.3 III.26 good 5,13E-01 7 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.394 . . 39.0 . . . . . . . . . . -1.1380 -1.230 -1.138 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.041 @ . . . 0.46 0.35 182 ENSG00000170379 FAM115C TCAF2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.165 0.006 . . 37 . 0.300 . . 0.079 . . . 0.308 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.283 . . 0.236 . . . . . . 0 0.269 . . . . . 0.121 . 0.115 . HET 0.05 rs2306872 . . . . . . . . . . . . IV.61 0.005405 . III.53 -3.7 . 0.410000 . . . . . . 0.065 . . . 0 0.0006 0.0004 0 0.0006 0 0.0008 0 0.0008 0.0009 0.0008 0.0116 0 0 0.0021 0 0 . . 0.558 . -0.963 -0.963000 . . 0.410000 . . 1.0E-255 0.000 0.063 . 0.074 0.003 . 0.041 . 0.035 -0.963 -0.890 . rs2306872 rs2306872 rs2306872 rs2306872 1 1538 10 1/0 0,255,255 +rs4725631 7 143420482 G A - TCAF2 26878 TRPM8 channel-associated factor 2 NM_001130025.1 1 2974 2538 NP_001123497.1 substitution synonymous exon GRCh37 143420482 143420482 Chr7(GRCh37):g.143420482G>A 2106 2106 NM_001130025.1:c.2106G>A p.Ala702= p.Ala702Ala 6 616252 -62 5' 77.0459 6.28946 0.247304 3.87632 77.0459 6.28946 0.247304 3.59162 0 rs4725631 no no 0 G 0.000000 0 COSM4004353 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.008 -2.942 A Ala GCG 0.107 A Ala GCA 0.226 702 255 PASS . . . . . . . . . . . . . . . . 0.6060606 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -1.2031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.43 182 ENSG00000170379 FAM115C TCAF2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4725631 . . . . . . . . . . . . XI.48 . ENST00000518791 III.48 -6.95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.295 -2.295000 . . . . . 1.0E-255 . . . . . . . . . -2.295 . . rs4725631 rs4725631 rs4725631 rs4725631 1 1538 10 1/0 0,255,255 +rs779076333 7 143453889 G A - CTAGE6 28644 CTAGE family, member 6 NM_178561.4 -1 2662 2334 NP_848656.2 Q86UF2 substitution missense exon GRCh37 143453889 143453889 Chr7(GRCh37):g.143453889G>A 863 863 NM_178561.4:c.863C>T p.Thr288Met p.Thr288Met 1 rs779076333 yes no Frequency 1 G 0.000000 0 0.002999 0.013389 0.000278 0.000000 0.008908 0.000483 0.000028 0.000000 0.000000 0.013389 243 157 3 0 79 3 1 0 0 81032 11726 10806 1564 8868 6210 35218 4268 2372 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243 157 3 0 79 3 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.043 0.125 T Thr ACG 0.116 M Met ATG 1.000 288 -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 188 PASS . . . . . . . . . . . ENSG00000271321:ENST00000470691:exon1:c.C863T:p.T288M CTAGE6:uc003wdk.4:exon1:c.C863T:p.T288M CTAGE6:NM_178561:exon1:c.C863T:p.T288M . . 0.13142857 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.077 . @ . . . . . 1 0.025 . . 175.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T288M|CTAGE6|mRNA|CODING|NM_178561|NM_178561.ex.1) . . . . . . . -0.3741 -0.210 -0.374 n . . . . . 1.472e-04 . . . 0 0.0010 0 0.0217 0 0 0 0 0 0 0 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . . @ . . . . . . ENSG00000271321 CTAGE6 CTAGE6 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.237 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.325 . . 0.257 . . . . . . 0 . . . . . . . . 0.036 . LowAF . rs779076333 . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 . . . 0.0006 0.0015 9.905e-05 0 0.0097 0 4.512e-05 0 0.0005 0.0235 0.0062 0.0028 0 0.0048 0 0 0 . . 0.013 . . . . . . . . 1.0E-188 0.001 0.137 . 0.157 0.013 . 0.150 . 0.253 . -0.180 . rs1731345 rs1731345 rs1731345 rs1731345 1 1538 10 1/0 0,205,255 +rs148935973 7 143510788 G A - TCAF2P1 33603 TRPM8 channel-associated factor 2 pseudogene 1 NR_110549.1 1 2268 0 substitution exon GRCh37 143510788 143510788 Chr7(GRCh37):g.143510788G>A 1483 1483 NR_110549.1:n.1483G>A 4 -62 5' 77.0459 6.28946 0.247304 3.87632 77.0459 6.28946 0.247304 3.59162 0 rs148935973 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.630 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.56 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 25.0 . . . . . . . . . . -0.1609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.63 0.48 182 . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148935973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4725631 rs4725631 rs4725631 rs148935973 1 1538 10 1/0 0,255,255 +rs201784448 7 143826587 C G - OR2A14 15084 Olfactory receptor, family 2, subfamily A, member 14 NM_001001659.1 1 933 933 NP_001001659.1 Q96R47 substitution missense exon GRCh37 143826587 143826587 Chr7(GRCh37):g.143826587C>G 382 382 NM_001001659.1:c.382C>G p.Pro128Ala p.Pro128Ala 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily Olfactory receptor rs201784448 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000607 0.000042 0.000203 0.000887 0.000000 0.000032 0.001147 0.000000 0.000774 0.001147 168 1 7 9 0 1 145 0 5 276884 24026 34414 10144 18868 30782 126398 25790 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 168 1 7 9 0 1 145 0 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8513 4312 12825 13 0 13 0.00152475 0 0.00101262 0.00152475 0 0.00101262 205 transversion C G C>G 0.992 4.967 P Pro CCC 0.328 A Ala GCC 0.403 128 6 6 Wallaby -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C25 0.00 26.87 Deleterious 0 III.65 bad 2.32E-4 0.0002166 255 PASS . 0.0005 0.0028 . . . 0.0002 0.0014 . . . ENSG00000221938:ENST00000408899:exon1:c.C382G:p.P128A OR2A14:uc011kua.2:exon1:c.C382G:p.P128A OR2A14:NM_001001659:exon1:c.C382G:p.P128A . . 0.46363637 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.518 . @ . . . . . 1 0.299 . . 110.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Gcc|P128A|OR2A14|mRNA|CODING|NM_001001659|NM_001001659.ex.1) . 0.001 0.0015 . 0.001 0.0015 . 0.5695 0.445 0.570 c . . . . . 5.223e-04 . . . 0 0.0007 8.648e-05 0 0 0.0014 0 6.06e-05 0 0.0005 8.917e-05 0 0 0.0009 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.019 . . exonic exonic exonic . . 0.483 0.0002 . . . 0.2 0.19 182 ENSG00000221938 OR2A14 OR2A14 . . . 1.000 0.415 . 30 0.000461709 64976 29 0.000483446 59986 Uncertain_significance . 0 . 0.321 . . . . T 0.129 0.005 . . 37 . 0.144 . . 0.032 . . . 0.938 0.473 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.960 . . 0 0 0 0 0 0 . 0.413 . . 0.470 . . . . . . 0 0.614 . . . . . 0.663 . 0.748 . HET 0.01 rs201784448 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 14.3811 0.0 ENST00000408899 IV.18 IV.18 . 0.020000 Q96R47 . . . 0.001013 . 0.910 . . IV.18 0 0.0006 0.0002 0.0009 0 0 0.0011 0.0007 3.249e-05 0.0001 0.0008 0 0 0 0 0.0015 0.0010 . . 0.133 . 2.303 2.303000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.230 0.862 . 0.835 . 0.445 2.303 0.871 0.0028 . . rs201784448 rs201784448 1 1538 10 1/0 0,252,255 +. 7 143881638 A T - ARHGEF35 33846 Rho guanine nucleotide exchange factor (GEF) 35 NM_001003702.2 -1 2474 1455 NP_001003702.2 A5YM69 substitution downstream GRCh37 143881638 143881638 Chr7(GRCh37):g.143881638A>T *2384 *2384 NM_001003702.2:c.*2384T>A p.? p.? 2 3851 3' 82.1174 9.90671 0.993198 8.94117 82.1174 9.90671 0.993198 8.94117 0 transversion T A T>A 0.004 0.609 174 PASS . . . . . . . . . . . ENSG00000225932:ENST00000486333:exon1:c.A1042T:p.T348S CTAGE4:uc010lpc.3:exon1:c.A1042T:p.T348S CTAGE4:NM_198495:exon1:c.A1042T:p.T348S . . 0.10185185 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.130 . . 108.0 . . . . . . . . . . -0.4947 -0.759 -0.495 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.177 @ . . . 0.37 0.24 182 ENSG00000225932 CTAGE4 CTAGE4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.435 . . 0.357 . . . 0.601 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.444 . . 0.419 . . . . . . 1 0.286 . . . . . 0.079 . 0.011 . LowAF . . . . . . . . . . . . . . III.89 . ENST00000486333 0.791 0.791 . 0.200000 Q8IX94 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.149 0.149000 . . 0.200000 . . 1.0E-174 0.001 0.137 . 0.120 0.012 . 0.143 . 0.268 0.149 0.642 . rs2966647 rs2966647 rs2966647 rs2966647 1 1538 10 1/0 0,223,255 +. 7 143881638 A T - CTAGE4 24772 CTAGE family, member 4 NM_198495.2 1 2626 2334 NP_940897.2 Q8IX94 substitution missense exon GRCh37 143881638 143881638 Chr7(GRCh37):g.143881638A>T 1042 1042 NM_198495.2:c.1042A>T p.Thr348Ser p.Thr348Ser 1 608910 transversion A T A>T 0.004 0.609 T Thr ACA 0.280 S Ser TCA 0.148 348 22 6 Hoffmann's two-fingered sloth 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.26 3.00 good 8.449E-1 0.4979 174 PASS . . . . . . . . . . . ENSG00000225932:ENST00000486333:exon1:c.A1042T:p.T348S CTAGE4:uc010lpc.3:exon1:c.A1042T:p.T348S CTAGE4:NM_198495:exon1:c.A1042T:p.T348S . . 0.10185185 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.293 . @ . . . . . 1 0.130 . . 108.0 . . . . . . . . . . -0.4947 -0.759 -0.495 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.400 . . exonic exonic exonic . . 0.177 @ . . . 0.37 0.24 182 ENSG00000225932 CTAGE4 CTAGE4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.435 . . 0.357 . . . 0.601 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.444 . . 0.419 . . . . . . 1 0.286 . . . . . 0.079 . 0.011 . LowAF . . . . . . . . . . . . . . III.89 . ENST00000486333 0.791 0.791 . 0.200000 Q8IX94 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.149 0.149000 . . 0.200000 . . 1.0E-174 0.001 0.137 . 0.120 0.012 . 0.143 . 0.268 0.149 0.642 . rs2966647 rs2966647 rs2966647 rs2966647 1 1538 10 1/0 0,223,255 +rs878957903 7 143881687 C T - ARHGEF35 33846 Rho guanine nucleotide exchange factor (GEF) 35 NM_001003702.2 -1 2474 1455 NP_001003702.2 A5YM69 substitution downstream GRCh37 143881687 143881687 Chr7(GRCh37):g.143881687C>T *2335 *2335 NM_001003702.2:c.*2335G>A p.? p.? 2 3802 3' 82.1174 9.90671 0.993198 8.94117 82.1174 9.90671 0.993198 8.94117 0 transition G A G>A 0.055 -0.198 175 PASS . . . . . . . . . . . ENSG00000225932:ENST00000486333:exon1:c.C1091T:p.A364V CTAGE4:uc010lpc.3:exon1:c.C1091T:p.A364V CTAGE4:NM_198495:exon1:c.C1091T:p.A364V . . 0.10309278 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.133 . @ . . . . . 1 0.186 . . 97.0 . . . . . . . . . . -0.8194 -1.004 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.113 @ . . . 0.38 0.24 182 ENSG00000225932 CTAGE4 CTAGE4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.444 . . 0.507 . . . 0.576 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.358 . . 0 0 0 0 0 0 . 0.220 . . 0.334 . . . . . . 1 0.233 . . . . . 0.047 . 0.025 . LowAF . . . . . . . . . . . . . . II.07 . ENST00000486333 0.791 -0.507 . 0.130000 Q8IX94 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.172 0.172000 . . 0.130000 . . 1.0E-175 0.689 0.283 . 0.164 0.012 . 0.083 . 0.254 0.172 -0.653 . . . . . 1 1538 10 1/0 0,228,255 +rs878957903 7 143881687 C T - CTAGE4 24772 CTAGE family, member 4 NM_198495.2 1 2626 2334 NP_940897.2 Q8IX94 substitution missense exon GRCh37 143881687 143881687 Chr7(GRCh37):g.143881687C>T 1091 1091 NM_198495.2:c.1091C>T p.Ala364Val p.Ala364Val 1 608910 transition C T C>T 0.055 -0.198 A Ala GCA 0.226 V Val GTA 0.114 364 22 9 Zebra finch 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.38 3.00 good 4.135E-1 0.4926 175 PASS . . . . . . . . . . . ENSG00000225932:ENST00000486333:exon1:c.C1091T:p.A364V CTAGE4:uc010lpc.3:exon1:c.C1091T:p.A364V CTAGE4:NM_198495:exon1:c.C1091T:p.A364V . . 0.10309278 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.133 . @ . . . . . 1 0.186 . . 97.0 . . . . . . . . . . -0.8194 -1.004 -0.819 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.113 @ . . . 0.38 0.24 182 ENSG00000225932 CTAGE4 CTAGE4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.444 . . 0.507 . . . 0.576 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.358 . . 0 0 0 0 0 0 . 0.220 . . 0.334 . . . . . . 1 0.233 . . . . . 0.047 . 0.025 . LowAF . . . . . . . . . . . . . . II.07 . ENST00000486333 0.791 -0.507 . 0.130000 Q8IX94 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.172 0.172000 . . 0.130000 . . 1.0E-175 0.689 0.283 . 0.164 0.012 . 0.083 . 0.254 0.172 -0.653 . . . . . 1 1538 10 1/0 0,228,255 +rs755621211 7 143956465 T A - ARHGEF34P 38086 Rho guanine nucleotide exchange factor (GEF) 34, pseudogene NR_033942.1 -1 4204 0 substitution exon GRCh37 143956465 143956465 Chr7(GRCh37):g.143956465T>A 3828 3828 NR_033942.1:n.3828A>T 13 261 3' 82.9643 7.75451 0.961476 4.70814 82.9643 7.75451 0.961476 4.70814 0 Cryptic Acceptor Strongly Activated 143956459 1.71629 0.004033 78.7519 3.73932 0.114436 82.1755 rs755621211 yes no Frequency 1 T 0.000000 0 0.000657 0.006877 0.000504 0.000275 0.000000 0.000130 0.000095 0.000000 0.000624 0.006877 125 96 13 2 0 3 8 0 3 190300 13960 25808 7274 15170 23110 83866 16302 4810 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 96 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5792770 Breast 0.000410 2442 transversion A T A>T 0.000 -1.167 182 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.A257T:p.H86L OR2A7:uc011kuc.2:exon1:c.A257T:p.H86L OR2A7:NM_001005328:exon1:c.A257T:p.H86L . . 0.11647727 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.125 . . 352.0 . . . . . . . . . . -1.3687 -1.379 -1.369 c . . . . . 2.535e-05 . . . 0.0004 6.575e-05 0 0 0 7.365e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.001 . . 0.089 . . . 0.027 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.182 . . . . . 0.155 . 0.189 . LowAF 0.21 rs755621211 . . . . . . . . . . . . V.03 . ENST00000493325 II.95 -2.38 . 0.250000 Q96R45 . . . . . 0.038 . . . 0.0073 0.0005 0.0005 0.0003 0 0 5.591e-05 0.0005 0.0001 0.0064 0.0018 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -0.519 -0.519000 . . 0.250000 . . 1.0E-182 0.000 0.063 . 0.214 0.002 . 0.006 . 0.043 -0.519 -0.555 . . . . . 1 1538 10 1/0 0,173,255 +rs755621211 7 143956465 T A - OR2A1-AS1 49168 OR2A1 antisense RNA 1 NR_126023.1 -1 946 0 substitution intron GRCh37 143956465 143956465 Chr7(GRCh37):g.143956465T>A 608-19629 608-19629 NR_126023.1:n.608-19629A>T p.? p.? 4 3 -19629 3' 94.9235 7.43713 0.931247 2.04708 94.9235 7.43713 0.931247 2.04708 0 Cryptic Acceptor Strongly Activated 143956459 1.71629 0.004033 78.7519 3.73932 0.114436 82.1755 rs755621211 yes no Frequency 1 T 0.000000 0 0.000657 0.006877 0.000504 0.000275 0.000000 0.000130 0.000095 0.000000 0.000624 0.006877 125 96 13 2 0 3 8 0 3 190300 13960 25808 7274 15170 23110 83866 16302 4810 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 96 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5792770 Breast 0.000410 2442 transversion A T A>T 0.000 -1.167 182 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.A257T:p.H86L OR2A7:uc011kuc.2:exon1:c.A257T:p.H86L OR2A7:NM_001005328:exon1:c.A257T:p.H86L . . 0.11647727 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.125 . . 352.0 . . . . . . . . . . -1.3687 -1.379 -1.369 c . . . . . 2.535e-05 . . . 0.0004 6.575e-05 0 0 0 7.365e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.001 . . 0.089 . . . 0.027 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.182 . . . . . 0.155 . 0.189 . LowAF 0.21 rs755621211 . . . . . . . . . . . . V.03 . ENST00000493325 II.95 -2.38 . 0.250000 Q96R45 . . . . . 0.038 . . . 0.0073 0.0005 0.0005 0.0003 0 0 5.591e-05 0.0005 0.0001 0.0064 0.0018 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -0.519 -0.519000 . . 0.250000 . . 1.0E-182 0.000 0.063 . 0.214 0.002 . 0.006 . 0.043 -0.519 -0.555 . . . . . 1 1538 10 1/0 0,173,255 +rs755621211 7 143956465 T A - OR2A7 8234 Olfactory receptor, family 2, subfamily A, member 7 NM_001005328.1 -1 933 933 NP_001005328.1 Q96R45 substitution missense exon GRCh37 143956465 143956465 Chr7(GRCh37):g.143956465T>A 257 257 NM_001005328.1:c.257A>T p.His86Leu p.His86Leu 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs755621211 yes no Frequency 1 T 0.000000 0 0.000657 0.006877 0.000504 0.000275 0.000000 0.000130 0.000095 0.000000 0.000624 0.006877 125 96 13 2 0 3 8 0 3 190300 13960 25808 7274 15170 23110 83866 16302 4810 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 96 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5792770 Breast 0.000410 2442 transversion A T A>T 0.000 -1.167 H His CAT 0.413 L Leu CTT 0.129 86 9 2 Macaque -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 C0 125.69 80.18 Tolerated 0.11 III.89 bad 5.917E-3 0.194 182 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.A257T:p.H86L OR2A7:uc011kuc.2:exon1:c.A257T:p.H86L OR2A7:NM_001005328:exon1:c.A257T:p.H86L . . 0.11647727 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.110 . @ . . . . . 1 0.125 . . 352.0 . . . . . . . . . . -1.3687 -1.379 -1.369 c . . . . . 2.535e-05 . . . 0.0004 6.575e-05 0 0 0 7.365e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.062 @ . . . . . . ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.001 . . 0.089 . . . 0.027 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.182 . . . . . 0.155 . 0.189 . LowAF 0.21 rs755621211 . . . . . . . . . . . . V.03 . ENST00000493325 II.95 -2.38 . 0.250000 Q96R45 . . . . . 0.038 . . . 0.0073 0.0005 0.0005 0.0003 0 0 5.591e-05 0.0005 0.0001 0.0064 0.0018 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -0.519 -0.519000 . . 0.250000 . . 1.0E-182 0.000 0.063 . 0.214 0.002 . 0.006 . 0.043 -0.519 -0.555 . . . . . 1 1538 10 1/0 0,173,255 +rs779626866 7 143956466 G T - ARHGEF34P 38086 Rho guanine nucleotide exchange factor (GEF) 34, pseudogene NR_033942.1 -1 4204 0 substitution exon GRCh37 143956466 143956466 Chr7(GRCh37):g.143956466G>T 3827 3827 NR_033942.1:n.3827C>A 13 260 3' 82.9643 7.75451 0.961476 4.70814 82.9643 7.75451 0.961476 4.70814 0 rs779626866 yes no Frequency 1 G 0.000000 0 0.000631 0.006505 0.000501 0.000273 0.000000 0.000129 0.000095 0.000000 0.000620 0.006505 121 92 13 2 0 3 8 0 3 191708 14144 25952 7326 15256 23250 84482 16460 4838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 92 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.247 189 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.C256A:p.H86N OR2A7:uc011kuc.2:exon1:c.C256A:p.H86N OR2A7:NM_001005328:exon1:c.C256A:p.H86N . . 0.13150685 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.152 . . 365.0 . . . . . . . . . . -1.6432 -1.704 -1.643 c . . . . . 2.532e-05 . . . 0.0004 6.547e-05 0 0 0 7.332e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.032 @ . . . 0.38 0.3 182 ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.002 . . 0.100 . . . 0.081 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.048 . . . . . 0.165 . 0.045 . LowAF 0.67 rs779626866 . . . . . . . . . . . . V.44 . ENST00000493325 II.95 -4.49 . 0.490000 Q96R45 . . . . . 0.033 . . . 0.0070 0.0005 0.0005 0.0003 0 0 5.55e-05 0.0005 0.0001 0.0058 0.0016 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -1.033 -1.033000 . . 0.490000 . . 1.0E-189 0.000 0.063 . 0.211 0.002 . 0.001 . 0.038 -1.033 -1.002 . rs62423426 rs62423426 rs62423426 rs62423426 1 1538 10 1/0 0,173,255 +rs779626866 7 143956466 G T - OR2A1-AS1 49168 OR2A1 antisense RNA 1 NR_126023.1 -1 946 0 substitution intron GRCh37 143956466 143956466 Chr7(GRCh37):g.143956466G>T 608-19630 608-19630 NR_126023.1:n.608-19630C>A p.? p.? 4 3 -19630 3' 94.9235 7.43713 0.931247 2.04708 94.9235 7.43713 0.931247 2.04708 0 rs779626866 yes no Frequency 1 G 0.000000 0 0.000631 0.006505 0.000501 0.000273 0.000000 0.000129 0.000095 0.000000 0.000620 0.006505 121 92 13 2 0 3 8 0 3 191708 14144 25952 7326 15256 23250 84482 16460 4838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 92 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.247 189 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.C256A:p.H86N OR2A7:uc011kuc.2:exon1:c.C256A:p.H86N OR2A7:NM_001005328:exon1:c.C256A:p.H86N . . 0.13150685 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.152 . . 365.0 . . . . . . . . . . -1.6432 -1.704 -1.643 c . . . . . 2.532e-05 . . . 0.0004 6.547e-05 0 0 0 7.332e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.032 @ . . . 0.38 0.3 182 ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.002 . . 0.100 . . . 0.081 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.048 . . . . . 0.165 . 0.045 . LowAF 0.67 rs779626866 . . . . . . . . . . . . V.44 . ENST00000493325 II.95 -4.49 . 0.490000 Q96R45 . . . . . 0.033 . . . 0.0070 0.0005 0.0005 0.0003 0 0 5.55e-05 0.0005 0.0001 0.0058 0.0016 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -1.033 -1.033000 . . 0.490000 . . 1.0E-189 0.000 0.063 . 0.211 0.002 . 0.001 . 0.038 -1.033 -1.002 . rs62423426 rs62423426 rs62423426 rs62423426 1 1538 10 1/0 0,173,255 +rs779626866 7 143956466 G T - OR2A7 8234 Olfactory receptor, family 2, subfamily A, member 7 NM_001005328.1 -1 933 933 NP_001005328.1 Q96R45 substitution missense exon GRCh37 143956466 143956466 Chr7(GRCh37):g.143956466G>T 256 256 NM_001005328.1:c.256C>A p.His86Asn p.His86Asn 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs779626866 yes no Frequency 1 G 0.000000 0 0.000631 0.006505 0.000501 0.000273 0.000000 0.000129 0.000095 0.000000 0.000620 0.006505 121 92 13 2 0 3 8 0 3 191708 14144 25952 7326 15256 23250 84482 16460 4838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 92 13 2 0 3 8 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.247 H His CAT 0.413 N Asn AAT 0.464 86 9 2 Macaque 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 125.69 0.00 Tolerated 0.51 III.89 good 9.168E-1 0.194 189 PASS . . . . . . . . . . . ENSG00000243896:ENST00000493325:exon1:c.C256A:p.H86N OR2A7:uc011kuc.2:exon1:c.C256A:p.H86N OR2A7:NM_001005328:exon1:c.C256A:p.H86N . . 0.13150685 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.152 . . 365.0 . . . . . . . . . . -1.6432 -1.704 -1.643 c . . . . . 2.532e-05 . . . 0.0004 6.547e-05 0 0 0 7.332e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.032 @ . . . 0.38 0.3 182 ENSG00000243896 OR2A7 OR2A7 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.002 . . 0.100 . . . 0.081 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.048 . . . . . 0.165 . 0.045 . LowAF 0.67 rs779626866 . . . . . . . . . . . . V.44 . ENST00000493325 II.95 -4.49 . 0.490000 Q96R45 . . . . . 0.033 . . . 0.0070 0.0005 0.0005 0.0003 0 0 5.55e-05 0.0005 0.0001 0.0058 0.0016 0.0014 0 0 0 0.0003 0.0012 . . 0.428 . -1.033 -1.033000 . . 0.490000 . . 1.0E-189 0.000 0.063 . 0.211 0.002 . 0.001 . 0.038 -1.033 -1.002 . rs62423426 rs62423426 rs62423426 rs62423426 1 1538 10 1/0 0,173,255 +rs149695333 7 144304165 T A - TPK1 17358 Thiamin pyrophosphokinase 1 NM_001350879.1 -1 2589 732 NP_001337808.1 Q9H3S4 substitution intron GRCh37 144304165 144304165 Chr7(GRCh37):g.144304165T>A 355-15503 355-15503 NM_001350879.1:c.355-15503A>T p.? p.? 7 6 606370 -15503 3' 80.2132 10.0071 0.983105 7.58669 80.2132 10.0071 0.983105 7.58669 0 rs149695333 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000800 0.000000 0.000000 0.001000 0.001400 0.000702 0.000071 0.000636 0.002188 0.000000 0.000427 0.001061 0.000055 0.000914 0.002188 113 1 14 18 0 9 66 1 4 160934 14168 22026 8228 10594 21092 62214 18234 4378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 113 1 14 18 0 9 66 1 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.031 1.900 255 PASS 0.002 0.0009 0.0028 . . 0.0008 0.0006 0.0014 . 0.001 . . . . . . 0.5 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.4075 . . . . . . . . 5.303e-04 . . . 0 0.0007 0 0 0 0.0016 0 0.0003 0 0.0007 0 0 0 0.0021 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.49 0.25 182 ENSG00000196511 TPK1 TPK1 . . . . . . 33 0.00050788 64976 30 0.000500117 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149695333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.57 0.0002 0.0008 0.0006 0.0021 0 6.783e-05 0.0012 0.0012 0.0004 0 0.0004 0.0012 0.0033 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs149695333 rs149695333 1 1538 10 1/0 0,255,255 +. 7 147335896 A G - CNTNAP2 13830 Contactin associated protein-like 2 NM_014141.5 1 9894 3996 NP_054860.1 Q9UHC6 substitution intron GRCh37 147335896 147335896 Chr7(GRCh37):g.147335896A>G 1898-302 1898-302 NM_014141.5:c.1898-302A>G p.? p.? 13 12 604569 -302 3' 88.414 X.78 0.976987 11.553 88.414 X.78 0.976987 11.553 0 rs975393189 no no 0 A 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000026 0.000070 0.000000 0.000070 2 0 0 0 0 0 1 1 0 101600 5826 12546 4866 7784 14842 38944 14300 2492 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition A G A>G 0.000 -0.844 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||CNTNAP2|mRNA|CODING|NM_014141|) . . . . . . . -0.3199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000174469 CNTNAP2 CNTNAP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.968e-05 0 0 0 6.993e-05 2.568e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 7 148106465 C CTCTT - CNTNAP2 13830 Contactin associated protein-like 2 NM_014141.5 1 9894 3996 NP_054860.1 Q9UHC6 duplication intron GRCh37 148106476 148106477 Chr7(GRCh37):g.148106473_148106476dup 3716-10 3716-7 NM_014141.5:c.3716-10_3716-7dup p.? p.? 23 22 604569 -6 3' 91.1942 X.96 0.987822 X.97 91.1942 12.376 0.993277 X.55 0.05479 rs142426153 yes no Frequency/1000G 2 uncertain_significance 0.000000 0 0.000023 0.000317 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000317 3 2 1 0 0 0 0 0 0 128392 6304 26902 6296 12576 14520 51050 7592 3152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes 4059 1590 5649 4179 2666 6845 0.492717 0.37359 0.452137 0.507283 0.62641 0.547863 75 RCV000081602.9|RCV000116773.1 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|VUS 1|1 not specified|not provided TTCT 255 Pass 0.7 0.52 0.36 0.37 0.58 . . . . . . . . . . . 0.7941176 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . other|Uncertain_significance RCV000081602.8|RCV000116773.1 not_specified|not_provided MedGen|MedGen CN169374|CN221809 2 . . . 34 . . INTRON(MODIFIER||||CNTNAP2|mRNA|CODING|NM_014141|) 0.63 0.55 0.51 0.63 0.55 0.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000174469 CNTNAP2 CNTNAP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs142426153 . . . . CLINSIG\x3dnon-pathogenic|unknown\x3bCLNDBN\x3dnot_specified|not_provided\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000081602.3|RCV000116773.1\x3bCLNDSDB\x3dMedGen|MedGen\x3bCLNDSDBID\x3dCN169374|CN221809 CLINSIG\x3dnon-pathogenic|unknown\x3bCLNDBN\x3dnot_specified|not_provided\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000081602.3|RCV000116773.1\x3bCLNDSDB\x3dMedGen|MedGen\x3bCLNDSDBID\x3dCN169374|CN221809 . . . . . . . . . . . . . . . . Name\x3desv2441804 0.549696 . . . . . 0.0004 2.439e-05 3.774e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.7 . . rs142426153 rs142426153 1 1538 10 1.I 0,8,10 +. 7 148877029 TG T - ZNF398 18373 Zinc finger protein 398 NM_170686.2 1 5445 1929 NP_733787.1 Q8TD17 deletion 3'UTR GRCh37 148877030 148877030 Chr7(GRCh37):g.148877030del *137 *137 NM_170686.2:c.*137del p.? p.? 6 1291 3' 93.3337 7.36765 0.978014 6.28428 93.3337 7.36765 0.978014 6.28428 0 Cryptic Acceptor Strongly Activated 148877036 0.622596 0.001883 63.189 0.848405 0.111064 70.607 G 255 Pass . . . . . . . . . . . . . . . . 0.3448276 . . . 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000197024 ZNF398 ZNF398 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv889402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 7 148921866 T TC - ZNF282 13076 Zinc finger protein 282 NM_003575.3 1 3744 2016 NP_003566.1 Q9UDV7 duplication 3'UTR GRCh37 148921870 148921871 Chr7(GRCh37):g.148921870dup *131 *131 NM_003575.3:c.*131dup p.? p.? 8 603397 967 3' 87.6957 13.3004 0.994865 16.1526 87.6957 13.3004 0.994865 16.1526 0 rs11421364 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30921 8712 838 300 1620 0 14979 3492 980 30922 8712 838 300 1620 0 14980 3492 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15460 4356 419 150 810 0 7489 1746 490 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 48 Genomes C 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.88235295 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000170265 ZNF282 ZNF282 ENST00000262085:c.*127_*128insC . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11421364 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11421364 rs11421364 rs11421364 1 1538 10 1.I 0,5,5 +. (chr7:148985758 C/G) 7 148985758 C G Not on a known gene +. (chr7:148985762 C/T) 7 148985762 C T Not on a known gene +. 7 149128641 C T - ZNF777 22213 Zinc finger protein 777 NM_015694.2 -1 3072 2496 NP_056509.2 substitution 3'UTR GRCh37 149128641 149128641 Chr7(GRCh37):g.149128641C>T *226 *226 NM_015694.2:c.*226G>A p.? p.? 6 1383 3' 0 4.38235 0.087651 3.79122 0 4.38235 0.087651 3.79122 0 rs988562530 yes no Frequency 1 C 0.000000 0 0.000055 0.000000 0.000093 0.000000 0.000000 0.000047 0.000058 0.000000 0.000295 0.000093 7 0 2 0 0 1 3 0 1 126882 5664 21528 7920 9058 21140 51408 6774 3390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 2 0 0 1 3 0 1 0 0 0 0 0 0 0 0 0 PASS 46 Exomes transition G A G>A 1.000 1.820 255 PASS . . . . . . . . . . . . . . . . 0.38181818 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . UTR_3_PRIME(MODIFIER||||ZNF777|mRNA|CODING|NM_015694|NM_015694.ex.6) . . . . . . . 0.0637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000196453 ZNF777 ZNF777 ENST00000247930:c.*226G>A uc003wfv.3:c.*226G>A NM_015694:c.*226G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . 15.1486 . ENST00000314683 IV.71 IV.71 . 0.820000 . . . . . . . . . IV.71 0 5.517e-05 9.29e-05 0 0 0 5.836e-05 0.0003 4.73e-05 . . . . . . . . . . . . 2.170 2.170000 . . 0.820000 . . 1.0E-255 . . . . . . . . . 2.170 . . . . . . 1 1538 10 1/0 0,255,255 +rs9657892 7 150434689 C T - GIMAP1-GIMAP5 51257 GIMAP1-GIMAP5 readthrough NM_001199577.1 1 2262 1536 NP_001186506.1 substitution missense exon GRCh37 150434689 150434689 Chr7(GRCh37):g.150434689C>T 499 499 NM_001199577.1:c.499C>T p.Arg167Cys p.Arg167Cys 4 97 3' 92.6888 IX.07 0.91776 9.74979 92.6888 IX.07 0.91776 9.74979 0 Cryptic Acceptor Strongly Activated 150434688 2.64802 0.029507 71.5154 3.64394 0.1097 71.5154 rs9657892 yes no Frequency/1000G 2 C 0.000000 0 0.005990 0.000800 0.000000 0.000000 0.024900 0.005800 0.009391 0.002952 0.008339 0.005386 0.000000 0.002629 0.016005 0.010800 0.008032 0.016005 1462 43 204 44 0 59 981 95 36 155680 14564 24462 8170 11470 22444 61292 8796 4482 0.000116 0.000000 0.000082 0.000000 0.000000 0.000000 0.000261 0.000000 0.000000 9 0 1 0 0 0 8 0 0 1444 43 202 44 0 59 965 95 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 1.093 R Arg CGC 0.190 C Cys TGC 0.552 167 12 2 Chicken -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0.01 0.01 . 0.02 0.0008 0.006 0.0058 . 0.025 . . GIMAP1-GIMAP5:uc022apw.1:exon4:c.C499T:p.R167C . . . 0.4054054 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.176 . @ . . . . . 1 0.126 . . 74.0 . . . . . . . . . . 0.2733 1.194 0.273 n . . . . . 4.958e-03 . . . 0.0052 0.0056 0 0 . 0.0121 0 0.0035 0.0053 0.0056 0 0 . 0.0122 0 0.0035 . nonsynonymous_SNV nonsynonymous_SNV . . . UTR5 exonic exonic . . 0.219 0.0060 . . . 0.67 0.78 182 ENSG00000196329 GIMAP1-GIMAP5 GIMAP1-GIMAP5 ENST00000358647:c.-3284C>T . . 1.000 0.747 . 847 0.0130356 64976 818 0.0136365 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.230 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.209 . 0.083 . HET . rs9657892 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . 0.044 . . . 0.0039 0.0093 0.0083 0.0056 0 0.0106 0.0164 0.0089 0.0026 0.0023 0.0096 0.0095 0 0 0.0112 0.0149 0.0051 . . 0.019 . . . . . . . . 1.0E-255 0.004 0.165 . 0.083 0.029 . 0.212 . 0.320 . 0.356 0.02 rs9657892 rs9657892 rs9657892 rs9657892 1 1538 10 1/0 0,255,255 +rs9657892 7 150434689 C T - GIMAP5 18005 GTPase, IMAP family member 5 NM_018384.4 1 1877 924 NP_060854.2 Q96F15 substitution 5'UTR GRCh37 150434689 150434689 Chr7(GRCh37):g.150434689C>T -114 -114 NM_018384.4:c.-114C>T p.? p.? 1 608086 -108 5' 86.4701 9.67503 0.995177 7.152 86.4701 9.67503 0.995177 7.152 0 Cryptic Acceptor Strongly Activated 150434688 2.64802 0.029507 71.5154 3.64394 0.1097 71.5154 rs9657892 yes no Frequency/1000G 2 C 0.000000 0 0.005990 0.000800 0.000000 0.000000 0.024900 0.005800 0.009391 0.002952 0.008339 0.005386 0.000000 0.002629 0.016005 0.010800 0.008032 0.016005 1462 43 204 44 0 59 981 95 36 155680 14564 24462 8170 11470 22444 61292 8796 4482 0.000116 0.000000 0.000082 0.000000 0.000000 0.000000 0.000261 0.000000 0.000000 9 0 1 0 0 0 8 0 0 1444 43 202 44 0 59 965 95 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 1.093 255 PASS . 0.01 0.01 . 0.02 0.0008 0.006 0.0058 . 0.025 . . GIMAP1-GIMAP5:uc022apw.1:exon4:c.C499T:p.R167C . . . 0.4054054 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.176 . @ . . . . . 1 0.126 . . 74.0 . . . . . . . . . . 0.2733 1.194 0.273 n . . . . . 4.958e-03 . . . 0.0052 0.0056 0 0 . 0.0121 0 0.0035 0.0053 0.0056 0 0 . 0.0122 0 0.0035 . nonsynonymous_SNV nonsynonymous_SNV . . . UTR5 exonic exonic . . 0.219 0.0060 . . . 0.67 0.78 182 ENSG00000196329 GIMAP1-GIMAP5 GIMAP1-GIMAP5 ENST00000358647:c.-3284C>T . . 1.000 0.747 . 847 0.0130356 64976 818 0.0136365 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.230 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.209 . 0.083 . HET . rs9657892 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . 0.044 . . . 0.0039 0.0093 0.0083 0.0056 0 0.0106 0.0164 0.0089 0.0026 0.0023 0.0096 0.0095 0 0 0.0112 0.0149 0.0051 . . 0.019 . . . . . . . . 1.0E-255 0.004 0.165 . 0.083 0.029 . 0.212 . 0.320 . 0.356 0.02 rs9657892 rs9657892 rs9657892 rs9657892 1 1538 10 1/0 0,255,255 +. 7 151049002 A AACACAC - NUB1 17623 Negative regulator of ubiquitin-like proteins 1 NM_001243351.1 1 3172 1920 NP_001230280.1 duplication intron GRCh37 151049022 151049023 Chr7(GRCh37):g.151049017_151049022dup 416+449 416+454 NM_001243351.1:c.416+449_416+454dup p.? p.? 4 4 607981 454 5' 87.864 10.0774 0.994916 5.15702 87.864 10.0774 0.994916 5.15702 0 rs3838706 no no 0 0.000000 0 ACACAC 255 Pass . . . . . . . . . . . . . . . . 0.7777778 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000013374 NUB1 NUB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs3838706 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv509225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,11 +rs58528565 7 151927023 G C - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution stop gain exon GRCh37 151927023 151927023 Chr7(GRCh37):g.151927023G>C 2961 2961 NM_170606.2:c.2961C>G p.Tyr987* p.Tyr987* 18 606833 -16 5' 81.7632 8.138 0.971805 0.520102 81.7632 8.138 0.971805 0 0 New Acceptor Site 151927022 4.238 0.059666 69.3688 Zinc finger, PHD-finger Zinc finger, RING-type Zinc finger, PHD-type rs58528565 yes no Frequency 1 G 0.000000 0 COSM216053|COSM216053 Thyroid|Central nervous system 0.001307|0.000755 765|2648 transversion C G C>G 1.000 3.111 Y Tyr TAC 0.562 * * TAG 0.234 987 196 PASS . . . . . . . . . . . . . KMT2C:NM_170606:exon18:c.C2961G:p.Y987X . . 0.15053764 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.976 . @ . . . . . 0 0.744 . . 93.0 . . STOP_GAINED(HIGH|NONSENSE|taC/taG|Y987*|KMT2C|mRNA|CODING|NM_170606|NM_170606.ex.18) . . . . . . . 0.5713 0.398 0.571 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.320 @ . . . 0.52 0.44 182 ENSG00000055609 KMT2C KMT2C . . . 0.114 0.167 . . . . . . . Likely_pathogenic . 0 . 0.375 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.481 . . . HET 1 rs58528565 . . . . . . . . . . . . XI.97 . . IV.67 II.83 . 1.000000 . . . . . . 0.712 . . II.83 . . . . . . . . . . . . . . . . . . . 0.465 . 0.487 0.487000 . . . . . 1.0E-196 1.000 0.715 . 0.697 0.999 . 0.536 . 0.195 0.487 -0.021 . rs58528565 rs58528565 rs58528565 rs58528565 1 1538 10 1/0 0,234,255 +rs60244562 7 151927067 T C - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution missense exon GRCh37 151927067 151927067 Chr7(GRCh37):g.151927067T>C 2917 2917 NM_170606.2:c.2917A>G p.Arg973Gly p.Arg973Gly 18 606833 46 3' 93.7948 10.0509 0.826544 4.40648 93.7948 10.0509 0.826544 IV.29 0 Zinc finger, PHD-finger Zinc finger, RING-type Zinc finger, PHD-type rs60244562 no no 0 T 0.000000 0 COSM4161994|COSM4161994|COSM4161994 Thyroid|Large intestine|Bone 0.001307|0.000374|0.001580 765|2672|633 transition A G A>G 0.992 0.609 R Arg AGA 0.205 G Gly GGA 0.246 973 22 18 Tetraodon -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0.02 III.63 bad 5.178E-5 0.0001143 196 PASS . . . . . . . . . . . . . KMT2C:NM_170606:exon18:c.A2917G:p.R973G . . 0.15116279 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.674 . @ . . . . . 1 0.698 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R973G|KMT2C|mRNA|CODING|NM_170606|NM_170606.ex.18) . . . . . . . 0.2027 0.153 0.203 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.874 . . exonic exonic exonic . . 0.261 @ . . . 0.57 0.5 182 ENSG00000055609 KMT2C KMT2C . . . 0.000 0.054 . . . . . . . Uncertain_significance . 0 . 0.449 . . . . D 0.816 0.133 . . 37 . 0.883 . . 0.863 . . . 0.612 0.404 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.775 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.481 . . . . . 0.596 . 0.922 . HET 0.02 rs60244562 . . . . . . ID\x3dCOSM4161994\x3bOCCURENCE\x3d1(thyroid) . . . . . 13.311 . . IV.67 2.I . 0.090000 . . . . . . 0.483 . . 2.I . . . . . . . . . . . . . . . . . . . 0.465 . 0.200 0.200000 . . 0.090000 . . 1.0E-196 1.000 0.715 . 0.888 0.999 . 0.303 . 0.627 0.200 0.991 . rs60244562 rs60244562 rs60244562 rs60244562 1 1538 10 1/0 0,237,255 +rs80348298 7 151932819 T A - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution intron GRCh37 151932819 151932819 Chr7(GRCh37):g.151932819T>A 2769+83 2769+83 NM_170606.2:c.2769+83A>T p.? p.? 16 16 606833 83 5' 78.6034 5.50481 0.64152 0 78.6034 5.50481 0.64152 0 0 rs80348298 yes no Frequency/1000G 2 T 0.000000 0 0.498203 0.501500 0.502000 0.499000 0.491100 0.495700 transversion A T A>T 0.008 1.174 241 PASS . . . . . 0.5 0.5 0.5 0.5 0.49 0.5 . . . . . 0.2857143 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||KMT2C|mRNA|CODING|NM_170606|) . . . . . . . 0.2749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4982 . . . 0.52 0.25 182 ENSG00000055609 KMT2C KMT2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80348298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.73 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . rs80348298 rs80348298 1 1538 10 1/0 0,255,255 +rs78860638 7 151932824 A T - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution intron GRCh37 151932824 151932824 Chr7(GRCh37):g.151932824A>T 2769+78 2769+78 NM_170606.2:c.2769+78T>A p.? p.? 16 16 606833 78 5' 78.6034 5.50481 0.64152 0 78.6034 5.50481 0.64152 0 0 rs78860638 no no 0 A 0.000000 0 transversion T A T>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||KMT2C|mRNA|CODING|NM_170606|) . . . . . . . 0.0504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.19 182 ENSG00000055609 KMT2C KMT2C . . . . . . 23280 0.358286 64976 22236 0.370687 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78860638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78860638 rs78860638 1 1538 10 1/0 0,255,255 +rs201452267 7 151935798 G T - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution synonymous exon GRCh37 151935798 151935798 Chr7(GRCh37):g.151935798G>T 2646 2646 NM_170606.2:c.2646C>A p.Ile882= p.Ile882Ile 15 606833 -7 5' 76.2827 5.1791 0.978796 0 76.2827 5.1791 0.980069 0 0.000433526 rs201452267 no no 0 G 0.000000 0 COSM4162004 Thyroid 0.003922 765 transversion C A C>A 1.000 3.918 I Ile ATC 0.481 I Ile ATA 0.163 882 255 PASS . . . . . . . . . . . . KMT2C:uc003wla.3:exon15:c.C2646A:p.I882I KMT2C:NM_170606:exon15:c.C2646A:p.I882I . . 0.3478261 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 23.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atA|I882|KMT2C|mRNA|CODING|NM_170606|NM_170606.ex.15) . . . . . . . I.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.63 0.57 182 ENSG00000055609 KMT2C KMT2C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201452267 . . . . . . ID\x3dCOSM4162004\x3bOCCURENCE\x3d3(thyroid) . . . . . . . . . . . . . . . . . . . . . V.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201452267 rs201452267 1 1538 10 1/0 0,255,255 +rs199839047 7 151935799 A G - KMT2C 13726 Lysine (K)-specific methyltransferase 2C NM_170606.2 -1 16862 14736 NP_733751.2 Q8NEZ4 substitution missense exon GRCh37 151935799 151935799 Chr7(GRCh37):g.151935799A>G 2645 2645 NM_170606.2:c.2645T>C p.Ile882Thr p.Ile882Thr 15 606833 -8 5' 76.2827 5.1791 0.978796 0 76.2827 5.1791 0.978796 0 0 rs199839047 no no 0 A 0.000000 0 COSM4162006 Thyroid 0.003922 765 transition T C T>C 1.000 4.725 I Ile ATC 0.481 T Thr ACC 0.361 882 22 17 Chicken -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Deleterious 0.01 III.63 bad 2.601E-4 0.0003309 255 PASS . . . . . . . . . . . . KMT2C:uc003wla.3:exon15:c.T2645C:p.I882T KMT2C:NM_170606:exon15:c.T2645C:p.I882T . . 0.3478261 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.569 . @ . . . . . 1 0.757 . . 23.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I882T|KMT2C|mRNA|CODING|NM_170606|NM_170606.ex.15) . . . . . . . 0.6364 0.666 0.636 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.856 . . exonic exonic exonic . . 0.825 @ . . . 0.62 0.58 182 ENSG00000055609 KMT2C KMT2C . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.447 . . . . D 0.729 0.078 . . 37 . 0.866 . . 0.882 . . . 0.520 0.467 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.644 . . 0 0 0 0 0 0 . 0.637 . . 0.562 . . . . . . 0 0.784 . . . . . 0.796 . 0.620 . HET 0.01 rs199839047 . . . . . . ID\x3dCOSM4162006\x3bOCCURENCE\x3d3(thyroid) . . . . . 15.9548 . . V.53 V.53 . 0.000000 Q8NEZ4 . . . . . 0.750 . . V.53 . . . . . . . . . . . . . . . . . . . 0.372 . 2.219 2.219000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.907 . 0.960 2.219 1.062 . . . rs199839047 rs199839047 1 1538 10 1/0 0,255,255 +. (chr7:157234278 C/T) 7 157234278 C T Not on a known gene +rs142911787 7 158902695 G A - VIPR2 12695 Vasoactive intestinal peptide receptor 2 NM_003382.4 -1 3944 1317 NP_003373.2 P41587 substitution intron GRCh37 158902695 158902695 Chr7(GRCh37):g.158902695G>A 152-85 152-85 NM_003382.4:c.152-85C>T p.? p.? 3 2 601970 -85 3' 89.1345 10.1052 0.961136 15.6126 89.1345 10.1052 0.961136 15.6126 0 Cryptic Donor Strongly Activated 158902697 51.9286 1.55845 0.013859 65.3647 rs142911787 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.001000 0.000000 0.000000 0.000000 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30962 8724 836 302 1622 0 15006 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.000 -0.198 255 PASS . . . . . 0.0008 0.0004 . . . 0.001 . . . . . 0.4489796 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.1676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.34 0.43 182 ENSG00000106018 VIPR2 VIPR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142911787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.23e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs4045962 8 163419 G A - RPL23AP53 35921 Ribosomal protein L23a pseudogene 53 NR_003572.2 -1 5789 0 substitution exon GRCh37 163419 163419 Chr8(GRCh37):g.163419G>A 714 714 NR_003572.2:n.714C>T 4 292 3' 74.5452 3.43703 0.223311 0 74.5452 3.43703 0.223311 0 0 Cryptic Acceptor Strongly Activated 163405 1.16158 0.0006 63.1081 1.32735 0.000657 65.8809 rs4045962 yes no Frequency/1000G 2 0.000000 0 0.263578 0.447800 0.217800 0.172600 0.200800 0.200300 0.001566 0.000232 0.000000 0.000000 0.000000 0.000000 0.002604 0.000783 0.001404 0.002604 32 1 0 0 0 0 28 2 1 20430 4306 620 248 1238 0 10752 2554 712 0.093750 0.000000 0.000000 0.000000 0.000000 0.000000 0.107143 0.000000 0.000000 3 0 0 0 0 0 3 0 0 26 1 0 0 0 0 22 2 1 0 0 0 0 0 0 0 0 0 PASS 49 Genomes transition C T C>T 1.000 0.125 216 PASS . . . . . 0.45 0.26 0.2 0.17 0.2 0.22 . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F238|RPL23AP53|Non-coding_transcript|NON_CODING|NR_003572|NR_003572.ex.4) . . . . . . . -0.3850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . 0.2636 . . . 0.38 0.12 182 ENSG00000223508 RPL23AP53 RPL23AP53 . uc010lrb.4:c.*52C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4045962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0016 0 0 0 0.0008 0.0026 0.0014 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs4045962 rs4045962 rs4045962 rs4045962 1 1538 10 1/0 0,255,255 +rs4045963 8 163420 A G - RPL23AP53 35921 Ribosomal protein L23a pseudogene 53 NR_003572.2 -1 5789 0 substitution exon GRCh37 163420 163420 Chr8(GRCh37):g.163420A>G 713 713 NR_003572.2:n.713T>C 4 291 3' 74.5452 3.43703 0.223311 0 74.5452 3.43703 0.223311 0 0 Cryptic Acceptor Weakly Activated 163405 1.16158 0.0006 63.1081 1.81554 0.000622 63.1081 rs4045963 yes no Frequency/1000G 2 0.000000 0 0.263578 0.447800 0.217800 0.172600 0.200800 0.200300 transition T C T>C 1.000 2.546 209 PASS . . . . . 0.45 0.26 0.2 0.17 0.2 0.22 . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 32.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F238S|RPL23AP53|Non-coding_transcript|NON_CODING|NR_003572|NR_003572.ex.4) . . . . . . . 0.0688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . 0.2636 . . . 0.38 0.15 182 ENSG00000223508 RPL23AP53 RPL23AP53 . uc010lrb.4:c.*51T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4045963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs4045963 rs4045963 rs4045963 rs4045963 1 1538 10 1/0 0,255,255 +rs4045964 8 163421 A T - RPL23AP53 35921 Ribosomal protein L23a pseudogene 53 NR_003572.2 -1 5789 0 substitution exon GRCh37 163421 163421 Chr8(GRCh37):g.163421A>T 712 712 NR_003572.2:n.712T>A 4 290 3' 74.5452 3.43703 0.223311 0 74.5452 3.43703 0.223311 0 0 rs4045964 yes no Frequency/1000G 2 0.000000 0 0.263578 0.447800 0.217800 0.172600 0.200800 0.200300 transversion T A T>A 1.000 1.174 209 PASS . . . . . 0.45 0.26 0.2 0.17 0.2 0.22 . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 32.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Atc|F238I|RPL23AP53|Non-coding_transcript|NON_CODING|NR_003572|NR_003572.ex.4) . . . . . . . -0.3226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . 0.2636 . . . 0.38 0.15 182 ENSG00000223508 RPL23AP53 RPL23AP53 . uc010lrb.4:c.*50T>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4045964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs4045964 rs4045964 rs4045964 rs4045964 1 1538 10 1/0 0,255,255 +rs200599414 8 182972 T C - RPL23AP53 35921 Ribosomal protein L23a pseudogene 53 NR_003572.2 -1 5789 0 substitution upstream GRCh37 182972 182972 Chr8(GRCh37):g.182972T>C -654 -654 NR_003572.2:n.-654A>G p.? p.? 1 -844 5' 90.5431 9.14378 0.984706 5.98975 90.5431 9.14378 0.984706 5.98975 0 rs200599414 no no 0 0.000000 0 0.003504 0.009596 0.000000 0.000000 0.000000 0.000000 0.001865 0.000864 0.001106 0.009596 98 68 0 0 0 0 26 3 1 27968 7086 810 258 1498 0 13940 3472 904 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 98 68 0 0 0 0 26 3 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition A G A>G 0.004 -0.037 189 PASS . . . . . . . . . . . . . . . . 0.13375796 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 157.0 . . . . . . . . . . 0.9096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.24 182 ENSG00000172748 ZNF596 ZNF596 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200599414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0096 0.0035 0 0 0 0.0009 0.0019 0.0011 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs200599414 rs200599414 1 1538 10 1/0 0,210,255 +rs200599414 8 182972 T C - ZNF596 27268 Zinc finger protein 596 NM_001042415.2 1 2730 1515 NP_001035880.1 Q8TC21 substitution intron GRCh37 182972 182972 Chr8(GRCh37):g.182972T>C 275 275 NM_001042415.2:c.-73+348T>C p.? p.? 1 1 348 5' 58.5076 0 0.005469 0 58.5076 0 0.005469 0 0 rs200599414 no no 0 0.000000 0 0.003504 0.009596 0.000000 0.000000 0.000000 0.000000 0.001865 0.000864 0.001106 0.009596 98 68 0 0 0 0 26 3 1 27968 7086 810 258 1498 0 13940 3472 904 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 98 68 0 0 0 0 26 3 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition T C T>C 0.004 -0.037 189 PASS . . . . . . . . . . . . . . . . 0.13375796 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 157.0 . . . . . . . . . . 0.9096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.24 182 ENSG00000172748 ZNF596 ZNF596 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200599414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0096 0.0035 0 0 0 0.0009 0.0019 0.0011 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs200599414 rs200599414 1 1538 10 1/0 0,210,255 +rs34076886 (chr8:424663 T/A) 8 424663 T A Not on a known gene +rs6984304 8 609085 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609085 609085 Chr8(GRCh37):g.609085G>A *5518 *5518 NM_207332.2:c.*5518C>T p.? p.? 6 5592 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs6984304 yes no Frequency/1000G 2 G 0.000000 0 0.001415 0.001543 0.000000 0.000000 0.000000 0.000000 0.001120 0.001626 0.007752 0.001626 11 3 0 0 0 0 4 2 2 7772 1944 318 86 364 0 3572 1230 258 0.090909 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 1 0 0 0 0 0 0 0 1 9 3 0 0 0 0 4 2 0 0 0 0 0 0 0 0 0 0 RF 65 Genomes transition C T C>T 0.988 1.013 197 PASS 0.09 0.14 0.17 0.12 0.18 . . . . . . . . . . . 0.15384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.0719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d14685\x3bdist\x3d5115 . . . . 6309 0.0970974 64976 6013 0.10024 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6984304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0014 0 0 0 0.0016 0.0011 0.0078 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.18 rs6984304 rs6984304 rs6984304 rs6984304 1 1538 10 1/0 0,255,255 +rs201356697 8 609087 T G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609087 609087 Chr8(GRCh37):g.609087T>G *5516 *5516 NM_207332.2:c.*5516A>C p.? p.? 6 5590 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs201356697 yes no Frequency 1 T 0.000000 0 transversion A C A>C 0.980 -0.279 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.0477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.06 182 ENSG00000104714 . ERICH1 . dist\x3d14687\x3bdist\x3d5113 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201356697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs201356697 rs201356697 1 1538 10 1/0 0,255,255 +rs1669678 8 609097 C G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609097 609097 Chr8(GRCh37):g.609097C>G *5506 *5506 NM_207332.2:c.*5506G>C p.? p.? 6 5580 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs1669678 no no 0 G 0.000000 0 0.002227 0.006024 0.003623 0.000000 0.000000 0.000000 0.000595 0.001905 0.000000 0.006024 16 11 1 0 0 0 2 2 0 7184 1826 276 82 350 0 3360 1050 240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 11 1 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 RF 64 Genomes transversion G C G>C 0.972 -1.812 219 PASS . . . . . . . . . . . . . . . . 0.21276596 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.5440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.06 182 ENSG00000104714 . ERICH1 . dist\x3d14697\x3bdist\x3d5103 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1669678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0060 0.0022 0.0036 0 0 0.0019 0.0006 0 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs1669678 rs1669678 rs1669678 rs1669678 1 1538 10 1/0 0,255,255 +rs17666723 8 609132 C G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609132 609132 Chr8(GRCh37):g.609132C>G *5471 *5471 NM_207332.2:c.*5471G>C p.? p.? 6 5545 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs17666723 yes no Frequency/1000G 2 G 0.000000 0 0.868810 0.757200 0.933500 0.924600 0.881700 0.890500 0.000139 0.000565 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000565 1 1 0 0 0 0 0 0 0 7202 1770 262 78 352 0 3332 1166 242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transversion G C G>C 0.039 -1.812 111 PASS 0.81 0.81 0.8 0.85 0.79 0.76 0.87 0.89 0.92 0.88 0.93 . . . . . 1.0 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.9237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . 0.1312 . . . 0.19 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d14732\x3bdist\x3d5068 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs17666723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.85 rs17666723 rs17666723 rs17666723 rs17666723 1 1538 255 1.I 0,0,255 +rs28707353 8 609143 G C - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609143 609143 Chr8(GRCh37):g.609143G>C *5460 *5460 NM_207332.2:c.*5460C>G p.? p.? 6 5534 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 New Donor Site 609144 6.56754 0.647512 81.2997 rs28707353 yes no Frequency/1000G 2 G 0.000000 0 transversion C G C>G 0.972 -0.037 237 PASS 0.2 0.18 0.14 0.23 0.15 . . . . . . . . . . . 0.265625 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.3205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.25 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d14743\x3bdist\x3d5057 . . . . 290 0.00446319 64976 157 0.00261728 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28707353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.23 rs28707353 rs28707353 rs28707353 rs28707353 1 1538 10 1/0 0,255,255 +rs113165190 8 609177 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609177 609177 Chr8(GRCh37):g.609177G>A *5426 *5426 NM_207332.2:c.*5426C>T p.? p.? 6 5500 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs113165190 yes no Frequency 1 G 0.000000 0 0.001976 0.008130 0.000000 0.000000 0.045455 0.000000 0.000000 0.000000 0.000000 0.045455 3 2 0 0 1 0 0 0 0 1518 246 110 8 22 0 392 670 70 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 133 Genomes transition C T C>T 0.870 1.013 201 PASS . . . . . . . . . . . . . . . . 0.16042781 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . INTRON(MODIFIER||||ERICH1|mRNA|CODING|NM_001303100|) . . . . . . . -0.2533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.08 182 ENSG00000104714 . ERICH1 . dist\x3d14777\x3bdist\x3d5023 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113165190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0081 0.0020 0 0 0.0455 0 0 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs113165190 rs113165190 1 1538 10 1/0 0,204,255 +rs201835148 8 609223 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609223 609223 Chr8(GRCh37):g.609223G>A *5380 *5380 NM_207332.2:c.*5380C>T p.? p.? 6 5454 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs201835148 yes no Frequency 1 G 0.000000 0 0.003704 0.000000 0.000000 0.000000 0.000000 0.000000 0.012195 0.002347 0.000000 0.012195 3 0 0 0 0 0 2 1 0 810 92 62 2 12 0 164 426 52 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 226 Genomes transition C T C>T 0.008 0.125 182 PASS . . . . . . . . . . . . . . . . 0.11707317 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 410.0 . . . . . . . . . . -0.0284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.21 0.09 182 ENSG00000104714 . ERICH1 . dist\x3d14823\x3bdist\x3d4977 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201835148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0037 0 0 0 0.0023 0.0122 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs201835148 rs201835148 1 1538 10 1/0 0,166,255 +rs67509179 8 609281 C G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609281 609281 Chr8(GRCh37):g.609281C>G *5322 *5322 NM_207332.2:c.*5322G>C p.? p.? 6 5396 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs67509179 no no 0 G 0.000000 0 transversion G C G>C 0.024 -2.377 186 PASS . . . . . . . . . . . . . . . . 0.12546816 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 534.0 . . . . . . . . . . -0.5980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.17 0.11 182 ENSG00000104714 . ERICH1 . dist\x3d14881\x3bdist\x3d4919 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs67509179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs67509179 rs67509179 1 1538 10 1/0 0,156,253 +. 8 609361 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609361 609361 Chr8(GRCh37):g.609361G>A *5242 *5242 NM_207332.2:c.*5242C>T p.? p.? 6 5316 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 transition C T C>T 0.000 0.125 175 PASS . . . . . . . . . . . . . . . . 0.10182767 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 383.0 . . . . . . . . . . -0.1187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d14961\x3bdist\x3d4839 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,168,255 +rs67153609 8 609407 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609407 609407 Chr8(GRCh37):g.609407G>A *5196 *5196 NM_207332.2:c.*5196C>T p.? p.? 6 5270 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs67153609 yes no Frequency 1 0.000000 0 transition C T C>T 0.008 0.125 184 PASS . . . . . . . . . . . . . . . . 0.13569322 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 339.0 . . . . . . . . . . 0.0771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.16 0.11 182 ENSG00000104714 . ERICH1 . dist\x3d15007\x3bdist\x3d4793 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 rs67153609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . rs67153609 rs67153609 rs67153609 1 1538 10 1/0 0,177,255 +rs879408914 8 609419 G C - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609419 609419 Chr8(GRCh37):g.609419G>C *5184 *5184 NM_207332.2:c.*5184C>G p.? p.? 6 5258 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 New Donor Site 609420 6.56754 0.647512 81.2997 rs879408914 no no 0 0.000000 0 transversion C G C>G 0.531 -0.763 131 PASS . . . . . . . . . . . . . . . . 0.11564626 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 294.0 . . . . . . . . . . -0.0365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.17 0.06 182 ENSG00000104714 . ERICH1 . dist\x3d15019\x3bdist\x3d4781 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0.98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-131 . . . . . . . . . . . . . rs67509179 . . 1 1538 10 1/0 0,184,255 +rs200770689 8 609591 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609591 609591 Chr8(GRCh37):g.609591G>A *5012 *5012 NM_207332.2:c.*5012C>T p.? p.? 6 5086 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs200770689 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 90 2 8 2 0 0 2 64 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 664 Genomes transition C T C>T 0.331 0.044 208 PASS . . . . . . . . . . . . . . . . 0.18064517 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . . . . . . . . . -0.1027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.2 0.09 182 ENSG00000104714 . ERICH1 . dist\x3d15191\x3bdist\x3d4609 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200770689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs200770689 rs200770689 1 1538 10 1/0 0,215,255 +. 8 609637 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609637 609637 Chr8(GRCh37):g.609637G>A *4966 *4966 NM_207332.2:c.*4966C>T p.? p.? 6 5040 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 2 2 2 0 0 20 26 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 717 Genomes transition C T C>T 0.933 1.013 199 PASS . . . . . . . . . . . . . . . . 0.15789473 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . -0.3497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d15237\x3bdist\x3d4563 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 609683 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609683 609683 Chr8(GRCh37):g.609683G>A *4920 *4920 NM_207332.2:c.*4920C>T p.? p.? 6 4994 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 transition C T C>T 0.839 -1.247 184 PASS . . . . . . . . . . . . . . . . 0.121212125 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.5632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d15283\x3bdist\x3d4517 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +. 8 609685 T G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609685 609685 Chr8(GRCh37):g.609685T>G *4918 *4918 NM_207332.2:c.*4918A>C p.? p.? 6 4992 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 transversion A C A>C 0.839 -1.570 187 PASS . . . . . . . . . . . . . . . . 0.12844037 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.5897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d15285\x3bdist\x3d4515 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +rs371963823 8 609695 C G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609695 609695 Chr8(GRCh37):g.609695C>G *4908 *4908 NM_207332.2:c.*4908G>C p.? p.? 6 4982 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs371963823 no no 0 0.000000 0 transversion G C G>C 0.783 -3.669 146 PASS . . . . . . . . . . . . . . . . 0.11167513 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . . . . . . . . . -1.2220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000104714 . ERICH1 . dist\x3d15295\x3bdist\x3d4505 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 rs371963823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . rs371963823 rs371963823 1 1538 10 1/0 0,199,255 +rs200051773 8 609729 G A - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609729 609729 Chr8(GRCh37):g.609729G>A *4874 *4874 NM_207332.2:c.*4874C>T p.? p.? 6 4948 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs200051773 yes no Frequency 1 0.000000 0 transition C T C>T 0.087 0.044 186 PASS . . . . . . . . . . . . . . . . 0.1634981 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 263.0 . . . . . . . . . . -0.3907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.22 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d15329\x3bdist\x3d4471 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200051773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs200051773 rs200051773 1 1538 10 1/0 0,190,255 +rs201193441 8 609731 T G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609731 609731 Chr8(GRCh37):g.609731T>G *4872 *4872 NM_207332.2:c.*4872A>C p.? p.? 6 4946 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs201193441 yes no Frequency 1 0.000000 0 transversion A C A>C 0.094 -0.037 197 PASS . . . . . . . . . . . . . . . . 0.15141957 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 317.0 . . . . . . . . . . -0.3818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.25 0.07 182 ENSG00000104714 . ERICH1 . dist\x3d15331\x3bdist\x3d4469 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 rs201193441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs201193441 rs201193441 1 1538 10 1/0 0,181,255 +rs113756892 8 609869 T G - ERICH1 27234 Glutamate-rich 1 NM_207332.2 -1 1813 1332 NP_997215.1 Q86X53 substitution downstream GRCh37 609869 609869 Chr8(GRCh37):g.609869T>G *4734 *4734 NM_207332.2:c.*4734A>C p.? p.? 6 4808 3' 89.3851 10.1128 0.985337 9.73723 89.3851 10.1128 0.985337 9.73723 0 rs113756892 no no 0 0.000000 0 0.000072 0.000129 0.000000 0.000000 0.000000 0.000000 0.000074 0.000000 0.000000 0.000129 2 1 0 0 0 0 1 0 0 27812 7774 760 280 1414 0 13496 3208 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transversion A C A>C 0.807 -0.037 196 PASS . . . . . . . . . . . . . . . . 0.14917128 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 181.0 . . . . . . . . . . -0.0508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.21 0.06 182 ENSG00000104714 . ERICH1 . dist\x3d15469\x3bdist\x3d4331 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0 rs113756892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.191e-05 0 0 0 0 7.41e-05 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs113756892 rs113756892 1 1538 10 1/0 0,206,255 +rs539748266 8 1951107 C T - KBTBD11 29104 Kelch repeat and BTB (POZ) domain containing 11 NM_014867.2 1 6717 1872 NP_055682.1 O94819 substitution synonymous exon GRCh37 1951107 1951107 Chr8(GRCh37):g.1951107C>T 1749 1749 NM_014867.2:c.1749C>T p.Gly583= p.Gly583Gly 2 2657 3' 79.8216 9.61542 0.612576 8.76897 79.8216 9.61542 0.612576 8.76897 0 Cryptic Donor Strongly Activated 1951105 53.8177 3.16015 0.021607 65.954 rs539748266 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.007721 0.001253 0.003704 0.003745 0.000000 0.002457 0.013938 0.002981 0.008264 0.013938 314 11 7 4 0 8 262 12 10 40668 8776 1890 1068 1644 3256 18798 4026 1210 0.000344 0.000000 0.000000 0.000000 0.000000 0.000614 0.000319 0.000497 0.003306 7 0 0 0 0 1 3 1 2 300 11 7 4 0 6 256 10 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.575 0.044 G Gly GGC 0.342 G Gly GGT 0.162 583 255 PASS . . . . . . 0.0008 0.0014 . 0.003 . ENSG00000176595:ENST00000320248:exon2:c.C1749T:p.G583G . KBTBD11:NM_014867:exon2:c.C1749T:p.G583G . . 0.72 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G583|KBTBD11|mRNA|CODING|NM_014867|NM_014867.ex.2) . . . . . . . 0.9646 . . . . . . . . 1.891e-03 . . . 0 0.0215 0 . . 0.0789 0 0.0145 0 0.0185 0 0 . 0.0588 0 0.0145 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . . . . ENSG00000176595 KBTBD11 KBTBD11 . . . . . . 503 0.00774132 64976 491 0.00818524 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs539748266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0059 0.0028 0.0026 0 0 0.0118 0 0.0025 0.0013 0.0083 0.0050 0.0066 0 0.0035 0.0145 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 2042028 C A - MYOM2 7614 Myomesin 2 NM_003970.3 1 5011 4398 NP_003961.3 P54296 substitution intron GRCh37 2042028 2042028 Chr8(GRCh37):g.2042028C>A 2125+110 2125+110 NM_003970.3:c.2125+110C>A p.? p.? 17 17 603509 110 5' 74.8217 9.13691 0.852855 2.50772 74.8217 9.13691 0.852855 2.50772 0 rs962241380 yes no Frequency 1 C 0.000000 0 0.000097 0.000000 0.000000 0.000000 0.000000 0.000000 0.000200 0.000000 0.000000 0.000200 3 0 0 0 0 0 3 0 0 30974 8728 838 302 1618 0 15014 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion C A C>A 0.000 -2.458 255 PASS . . . . . . . . . . . . . . . . 0.5090909 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||MYOM2|mRNA|CODING|NM_003970|) . . . . . . . -0.2644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000036448 MYOM2 MYOM2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.686e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 3063095 G C - CSMD1 14026 CUB and Sushi multiple domains 1 NM_033225.5 -1 14317 10695 NP_150094.5 substitution missense exon GRCh37 3063095 3063095 Chr8(GRCh37):g.3063095G>C 4915 4915 NM_033225.5:c.4915C>G p.Pro1639Ala p.Pro1639Ala 31 608397 48 3' 88.3705 6.98969 0.975612 2.90422 88.3705 6.98969 0.975612 2.87986 0 CUB 0.000065 0.000229 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000229 2 2 0 0 0 0 0 0 0 30976 8726 838 302 1620 0 15016 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C G C>G 1.000 5.694 P Pro CCA 0.274 A Ala GCA 0.226 1639 12 10 Tetraodon -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 353.86 0.00 Deleterious 0 IV.32 bad 2.32E-4 0.0002166 255 PASS . . . . . . . . . . . . . CSMD1:NM_033225:exon31:c.C4915G:p.P1639A . . 0.45 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.659 . @ . . . . . 1 0.725 . . 60.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P1639A|CSMD1|mRNA|CODING|NM_033225|NM_033225.ex.31) . . . . . . . 0.5190 0.465 0.519 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.682 . . exonic exonic exonic . . 0.740 @ . . . . . . ENSG00000183117 CSMD1 CSMD1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.782 0.106 . . 37 . 0.861 . . 0.895 . . . 0.920 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.942 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.614 . . . . . 0.940 . 0.813 . HET 0 . . . . . . . . . . . . . 19.2736 . ENST00000335551 V.28 V.28 . 0.070000 . . . Name\x3dnsv889887 . . 0.927 . . V.28 . . . . . . . . . 0.0002 6.457e-05 0 0 0 0 0 0 . . 0.133 . 2.617 2.617000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.282 0.996 . 0.981 . 0.713 2.617 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs62488376 (chr8:7104746 G/C) 8 7104746 G C No Alamut gene - other known genes: OR7E125P OR7E125P +. (chr8:7115289 A/G) 8 7115289 A G No Alamut gene - other known genes: FAM90A15, FAM90A4P FAM90A15 +. 8 7116537 G A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116537 7116537 Chr8(GRCh37):g.7116537G>A *1604 *1604 NR_027000.1:n.*1604C>T p.? p.? 1 transition C T C>T 0.000 -1.732 194 PASS . . . . . . . . . . . . . . . . 0.14529915 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 117.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.7515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72115\x3bdist\x3d1604 dist\x3d202276\x3bdist\x3d1604 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.75 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 8 7116548 A C - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116548 7116548 Chr8(GRCh37):g.7116548A>C *1593 *1593 NR_027000.1:n.*1593T>G p.? p.? 1 transversion T G T>G 0.000 -1.247 184 PASS . . . . . . . . . . . . . . . . 0.12096774 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 124.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.4926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72126\x3bdist\x3d1593 dist\x3d202287\x3bdist\x3d1593 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . rs2680452 rs2680452 rs2680452 rs2680452 1 1538 10 1/0 0,218,255 +. 8 7116551 T A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116551 7116551 Chr8(GRCh37):g.7116551T>A *1590 *1590 NR_027000.1:n.*1590A>T p.? p.? 1 transversion A T A>T 0.000 0.528 197 PASS . . . . . . . . . . . . . . . . 0.15079366 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 126.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.3186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72129\x3bdist\x3d1590 dist\x3d202290\x3bdist\x3d1590 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs78442057 rs78442057 1 1538 10 1/0 0,220,255 +rs62488776 8 7116556 A C - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116556 7116556 Chr8(GRCh37):g.7116556A>C *1585 *1585 NR_027000.1:n.*1585T>G p.? p.? 1 rs62488776 no no 0 0.000000 0 transversion T G T>G 0.000 0.528 238 PASS . . . . . . . . . . . . . . . . 0.30597016 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 134.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.3385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72134\x3bdist\x3d1585 dist\x3d202295\x3bdist\x3d1585 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.1 rs62488776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs2680453 rs2680453 rs2680453 rs2680453 1 1538 10 1/0 0,232,255 +. 8 7116877 G A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7116877 7116877 Chr8(GRCh37):g.7116877G>A *1264 *1264 NR_027000.1:n.*1264C>T p.? p.? 1 transition C T C>T 0.000 -0.360 175 PASS . . . . . . . . . . . . . . . . 0.10273973 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 146.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.3623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72455\x3bdist\x3d1264 dist\x3d202616\x3bdist\x3d1264 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs80165277 rs80165277 1 1538 10 1/0 0,210,255 +. 8 7117048 C A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7117048 7117048 Chr8(GRCh37):g.7117048C>A *1093 *1093 NR_027000.1:n.*1093G>T p.? p.? 1 transversion G T G>T 0.000 -1.489 207 PASS . . . . . . . . . . . . . . . . 0.17821783 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 101.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.4382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230045 . . . dist\x3d72626\x3bdist\x3d1093 dist\x3d202787\x3bdist\x3d1093 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . rs71204200 . . 1 1538 10 1/0 0,233,255 +. 8 7117270 C A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution downstream GRCh37 7117270 7117270 Chr8(GRCh37):g.7117270C>A *871 *871 NR_027000.1:n.*871G>T p.? p.? 1 transversion G T G>T 0.000 0.044 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|) . . . . . . . -0.2838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic downstream downstream . . . @ . . . . . . ENSG00000230045 FLJ00326 LINC00965 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 8 7119328 G A - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution exon GRCh37 7119328 7119328 Chr8(GRCh37):g.7119328G>A 1687 1687 NR_027000.1:n.1687C>T 1 transition C T C>T 0.059 0.125 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R563W|LINC00965|Non-coding_transcript|NON_CODING|NR_027000.2|NR_027000.2.ex.1) . . . . . . . -0.3760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . . FLJ00326 LINC00965 dist\x3d1892\x3bdist\x3d2720 . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7122911 A G - LINC00965 28022 Long intergenic non-protein coding RNA 965 NR_027000.1 -1 2874 0 substitution upstream GRCh37 7122911 7122911 Chr8(GRCh37):g.7122911A>G -1897 -1897 NR_027000.1:n.-1897T>C p.? p.? 1 transition T C T>C 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.54761904 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . . . . . . . . . -0.5830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000233132 FLJ00326 . . . dist\x3d1897\x3bdist\x3d2852 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr8:7124942 A/G) 8 7124942 A G No Alamut gene - other known genes: FAM90A4P, FAM90A3 FAM90A4P +. (chr8:7124970 C/G) 8 7124970 C G No Alamut gene - other known genes: FAM90A4P, FAM90A3 FAM90A4P +rs371162721 8 7138038 T C - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7138038 7138038 Chr8(GRCh37):g.7138038T>C 253 253 NM_001164456.1:c.253T>C p.Trp85Arg p.Trp85Arg 2 613049 -71 5' 89.5524 9.59704 0.996047 7.84334 89.5524 9.59704 0.996047 8.03286 0 rs371162721 no no 0 0.000000 0 0.004881 0.001517 0.000000 0.000000 0.018258 0.000000 0.001486 0.018837 0.002347 0.018837 63 4 0 0 13 0 10 35 1 12908 2636 426 122 712 0 6728 1858 426 0.000310 0.000000 0.000000 0.000000 0.002809 0.000000 0.000000 0.001076 0.000000 2 0 0 0 1 0 0 1 0 59 4 0 0 11 0 10 33 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.086 W Trp TGG 1.000 R Arg CGG 0.207 85 14 4 Macaque -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 353.86 0.00 Tolerated 0.86 II.60 good 4.388E-1 0.653 255 PASS . . . . . . . . . . . . . . . . 0.34210527 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.6267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d9402\x3bdist\x3d2969 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.91 rs371162721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . . 0 . 0.0015 0.0049 0 0 0.0183 0.0188 0.0015 0.0024 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371162721 rs371162721 1 1538 10 1/0 0,255,255 +rs796912902 8 7138068 C T - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7138068 7138068 Chr8(GRCh37):g.7138068C>T 283 283 NM_001164456.1:c.283C>T p.Pro95Ser p.Pro95Ser 2 613049 -41 5' 89.5524 9.59704 0.996047 7.84334 89.5524 9.59704 0.996047 7.52554 0 Cryptic Acceptor Strongly Activated 7138080 I.21 7,00E-06 61.2829 2.57432 1.2e-05 64.5976 rs796912902 no no 0 0.000000 0 0.003466 0.001426 0.000000 0.000000 0.009950 0.000000 0.000555 0.014811 0.006522 0.014811 48 4 0 0 8 0 4 29 3 13850 2806 476 132 804 2 7212 1958 460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 4 0 0 8 0 4 29 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.086 P Pro CCC 0.328 S Ser TCC 0.220 95 14 9 Cape rock hyrax -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.05 II.65 good 4.175E-2 0.005125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.5041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d9432\x3bdist\x3d2939 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 0 0.0014 0.0035 0 0 0.0100 0.0148 0.0006 0.0066 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7139422 A C - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7139422 7139422 Chr8(GRCh37):g.7139422A>C 515 515 NM_001164456.1:c.515A>C p.Glu172Ala p.Glu172Ala 4 613049 83 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 Cryptic Acceptor Strongly Activated 7139435 3.43036 0.008159 73.1183 III.46 0.032551 75.8112 transversion A C A>C 0.000 0.367 E Glu GAA 0.417 A Ala GCA 0.226 172 14 4 Rat -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 203.79 1.I Tolerated 0.72 II.61 good 1.611E-1 0.3613 235 PASS . . . . . . . . . . . . . . . . 0.2589928 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 139.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.3575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d10786\x3bdist\x3d1585 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs2680453 rs2680453 rs2680453 rs2680453 1 1538 10 1/0 0,226,255 +. 8 7139531 C T - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution synonymous exon GRCh37 7139531 7139531 Chr8(GRCh37):g.7139531C>T 624 624 NM_001164456.1:c.624C>T p.Ala208= p.Ala208Ala 4 613049 192 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 Cryptic Acceptor Strongly Activated 7139544 0.346045 0.000643 66.4302 0.859037 0.003322 69.5458 transition C T C>T 0.008 0.448 A Ala GCC 0.403 A Ala GCT 0.263 208 178 PASS . . . . . . . . . . . . . . . . 0.1091703 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 229.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.3386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d10895\x3bdist\x3d1476 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs71214080 rs71214080 1 1538 10 1/0 0,191,255 +. 8 7139743 G A - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7139743 7139743 Chr8(GRCh37):g.7139743G>A 836 836 NM_001164456.1:c.836G>A p.Gly279Asp p.Gly279Asp 4 613049 404 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transition G A G>A 0.000 -0.117 G Gly GGC 0.342 D Asp GAC 0.539 279 14 9 Elephant -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 244.41 40.46 Tolerated 0.13 II.61 good 8.665E-2 0.09977 177 PASS . . . . . . . . . . . . . . . . 0.10625 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 160.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.3682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d11107\x3bdist\x3d1264 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs80165277 rs80165277 1 1538 10 1/0 0,206,255 +. 8 7139914 C A - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7139914 7139914 Chr8(GRCh37):g.7139914C>A 1007 1007 NM_001164456.1:c.1007C>A p.Ala336Asp p.Ala336Asp 4 613049 575 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 Cryptic Acceptor Strongly Activated 7139914 1.67947 0.008486 69.8175 2.74699 0.050226 71.665 transversion C A C>A 0.000 -1.086 A Ala GCC 0.403 D Asp GAC 0.539 336 14 6 Armadillo -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 256.55 22.66 Tolerated 0.54 II.61 bad 4.863E-3 0.6366 200 PASS . . . . . . . . . . . . . . . . 0.16071428 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.4105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223885 FLJ00326 . . . dist\x3d11278\x3bdist\x3d1093 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,255 +. 8 7140051 C T - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7140051 7140051 Chr8(GRCh37):g.7140051C>T 1144 1144 NM_001164456.1:c.1144C>T p.Pro382Ser p.Pro382Ser 4 613049 712 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transition C T C>T 0.000 1.013 P Pro CCA 0.274 S Ser TCA 0.148 382 14 7 Armadillo -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.78 II.72 good 5.51E-1 0.1381 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.1074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic downstream . . . @ . . . . . . ENSG00000223885 FLJ00326 LINC00965 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75942960 rs75942960 1 1538 10 1/0 0,243,255 +. 8 7140064 A G - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7140064 7140064 Chr8(GRCh37):g.7140064A>G 1157 1157 NM_001164456.1:c.1157A>G p.His386Arg p.His386Arg 4 613049 725 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transition A G A>G 0.000 -1.409 H His CAT 0.413 R Arg CGT 0.082 386 14 3 Tree shrew 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Tolerated 0.71 II.72 good 8.932E-1 0.498 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.4567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic downstream . . . @ . . . . . . ENSG00000223885 FLJ00326 LINC00965 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs76380855 rs76380855 1 1538 10 1/0 0,246,255 +. 8 7140136 C A - FAM90A13 32261 Family with sequence similarity 90, member A13 NM_001164456.1 1 1395 1395 NP_001157928.1 P0C7W8 substitution missense exon GRCh37 7140136 7140136 Chr8(GRCh37):g.7140136C>A 1229 1229 NM_001164456.1:c.1229C>A p.Ala410Glu p.Ala410Glu 4 613049 797 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transversion C A C>A 0.000 0.044 A Ala GCG 0.107 E Glu GAG 0.583 410 14 2 Chimp -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Deleterious 0.04 II.62 good 2.587E-2 0.02869 188 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . DOWNSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.2737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic downstream . . . @ . . . . . . ENSG00000223885 FLJ00326 LINC00965 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7145777 A G - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution intron GRCh37 7145777 7145777 Chr8(GRCh37):g.7145777A>G 323+47 323+47 NM_001164455.1:c.323+47A>G p.? p.? 2 2 613043 47 5' 89.5524 9.59704 0.996047 7.42539 89.5524 9.59704 0.996047 7.49242 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 24.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.4982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d1897\x3bdist\x3d13356 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7147365 G A - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution missense exon GRCh37 7147365 7147365 Chr8(GRCh37):g.7147365G>A 836 836 NM_001164455.1:c.836G>A p.Gly279Asp p.Gly279Asp 4 613043 404 3' 93.5465 13.6284 0.995051 16.271 93.5465 13.6284 0.995051 16.271 0 transition G A G>A 0.000 -0.037 G Gly GGC 0.342 D Asp GAC 0.539 279 14 9 Elephant -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 244.41 40.46 Tolerated 0.13 II.61 good 8.668E-2 0.09986 179 PASS . . . . . . . . . . . . . . . . 0.11029412 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 136.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.3295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d3485\x3bdist\x3d11768 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs80165277 rs80165277 1 1538 10 1/0 0,214,255 +. 8 7147536 C A - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution missense exon GRCh37 7147536 7147536 Chr8(GRCh37):g.7147536C>A 1007 1007 NM_001164455.1:c.1007C>A p.Ala336Asp p.Ala336Asp 4 613043 575 3' 93.5465 13.6284 0.995051 16.271 93.5465 13.6284 0.995051 16.271 0 Cryptic Acceptor Strongly Activated 7147536 1.67947 0.008486 69.8175 2.74699 0.050226 71.665 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 172 28 12 4 4 48 68 4 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 483 Exomes transversion C A C>A 0.000 -0.682 A Ala GCC 0.403 D Asp GAC 0.539 336 14 6 Armadillo -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 256.55 22.66 Tolerated 0.54 II.61 bad 4.835E-3 0.6365 209 PASS . . . . . . . . . . . . . . . . 0.18390805 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.4832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d3656\x3bdist\x3d11597 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 8 7147758 C A - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution missense exon GRCh37 7147758 7147758 Chr8(GRCh37):g.7147758C>A 1229 1229 NM_001164455.1:c.1229C>A p.Ala410Glu p.Ala410Glu 4 613043 797 3' 93.5465 13.6284 0.995051 16.271 93.5465 13.6284 0.995051 16.271 0 transversion C A C>A 0.000 -0.037 A Ala GCG 0.107 E Glu GAG 0.583 410 14 2 Chimp -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Deleterious 0.04 II.62 good 4.715E-2 0.04462 235 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.2880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d3878\x3bdist\x3d11375 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7147798 C T - FAM90A5 32253 Family with sequence similarity 90, member A5 NM_001164455.1 1 1395 1395 NP_001157927.1 A8MXJ8 substitution synonymous exon GRCh37 7147798 7147798 Chr8(GRCh37):g.7147798C>T 1269 1269 NM_001164455.1:c.1269C>T p.Phe423= p.Phe423Phe 4 613043 837 3' 93.5465 13.6284 0.995051 16.271 93.5465 13.6284 0.995051 16.271 0 Cryptic Acceptor Weakly Activated 7147808 4.23856 0.425975 80.9684 4.16044 0.618879 84.2511 0.001050 0.000000 0.000000 0.000000 0.000000 0.002358 0.000000 0.000000 0.000000 0.002358 1 0 0 0 0 1 0 0 0 952 38 120 40 24 424 242 26 38 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.024 0.851 F Phe TTC 0.546 F Phe TTT 0.454 423 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . UPSTREAM(MODIFIER||||LINC00965|Non-coding_transcript|NON_CODING|NR_027000.3|) . . . . . . . -0.1986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000215373 FAM66B . . . dist\x3d3918\x3bdist\x3d11335 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0 0 0 0 0 0 0.0024 . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs554835205 8 7155380 C A - FAM90A20P 32268 Family with sequence similarity 90, member A20, pseudogene XR_956516.1 1 2920 0 substitution exon GRCh37 7155380 7155380 Chr8(GRCh37):g.7155380C>A 1355 1355 XR_956516.1:n.1355C>A 4 613054 797 3' 93.5465 13.6284 0.994549 15.2988 93.5465 13.6284 0.994549 15.2988 0 rs554835205 yes no Frequency/1000G 2 0.000000 0 0.000052 0.000000 0.000000 0.000000 0.000000 0.000086 0.000091 0.000000 0.000000 0.000091 7 0 0 0 0 2 5 0 0 135702 4932 24270 7986 10464 23134 55052 6184 3680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 2 5 0 0 0 0 0 0 0 0 0 0 0 PASS 106 Exomes COSM5428128 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 0.000 0.448 199 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . DOWNSTREAM(MODIFIER||||FAM66B|Non-coding_transcript|NON_CODING|NR_027423|) . . . . . . . -0.3467 . . . . . . . . 5.037e-05 . . . 0 0.0001 0 0 0 0.0002 0 0.0001 0 0.0001 0 0 0 0.0002 0 0.0001 . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0024 . . . . . . ENSG00000233295 FAM66B . . . dist\x3d11500\x3bdist\x3d3753 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.31 rs554835205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.158e-05 0 0 0 0 9.082e-05 0 8.645e-05 . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs62488805 8 7182702 C G - FAM66B 28890 Family with sequence similarity 66, member B NR_027423.1 -1 1432 0 substitution exon GRCh37 7182702 7182702 Chr8(GRCh37):g.7182702C>G 627 627 NR_027423.1:n.627G>C 3 19 3' 84.6746 VII.89 0.990338 7.89888 84.6746 VII.89 0.990732 7.62611 0.000132615 rs62488805 no no 0 C 0.000000 0 transversion G C G>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M209I|FAM66B|Non-coding_transcript|NON_CODING|NR_027423|NR_027423.ex.3) . . . . . . . -0.3958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.4 182 ENSG00000215374 FAM66B FAM66B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62488805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62488805 rs62488805 rs62488805 rs62488805 1 1538 10 1/0 0,255,255 +rs543951582 8 7191113 G A - FAM66B 28890 Family with sequence similarity 66, member B NR_027423.1 -1 1432 0 substitution intron GRCh37 7191113 7191113 Chr8(GRCh37):g.7191113G>A 609-8393 609-8393 NR_027423.1:n.609-8393C>T p.? p.? 3 2 -8393 3' 84.6746 VII.89 0.990338 7.89888 84.6746 VII.89 0.990338 7.89888 0 rs543951582 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000165 0.000341 0.000034 0.000000 0.001308 0.000037 0.000093 0.000000 0.000183 0.001308 36 4 1 0 20 1 9 0 1 218162 11732 29370 9070 15292 27270 96438 23526 5464 0.000018 0.000000 0.000000 0.000000 0.000131 0.000000 0.000021 0.000000 0.000000 2 0 0 0 1 0 1 0 0 32 4 1 0 18 1 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.602 255 PASS . . . . . . 0.0004 . 0.002 . . . USP17L1P:uc031taa.1:exon1:c.G1205A:p.R402Q USP17L1:NM_001256873:exon1:c.G1205A:p.R402Q . . 0.5543478 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.097 . @ . . . . . 1 0.055 . . 92.0 . . . . . . . . . . -0.5030 -0.256 -0.503 n . . . . . 1.260e-04 . . . 0.0013 0.0003 0 0.0020 0 0.0003 0 0 0.0009 0.0003 0 0.0027 0 0.0002 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.098 0.0004 . . . . . . ENSG00000230549 USP17L1P USP17L1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.225 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . 0.049 . HET 0.44 rs543951582 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0.0004 0.0002 3.493e-05 0 0.0015 0 0.0001 0.0002 3.667e-05 0.0002 4.069e-05 0 0 0 0 0 0 . . 0.009 . . . . . . . . 1.0E-255 0.000 0.063 . 0.043 0.002 . 0.011 . 0.279 . 0.345 . . . . . 1 1538 10 1/0 0,255,255 +rs543951582 8 7191113 G A - USP17L1 37182 Ubiquitin specific peptidase 17-like family member 1 NM_001256873.1 1 1593 1593 NP_001243802.1 Q7RTZ2 substitution missense exon GRCh37 7191113 7191113 Chr8(GRCh37):g.7191113G>A 1205 1205 NM_001256873.1:c.1205G>A p.Arg402Gln p.Arg402Gln 1 rs543951582 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000165 0.000341 0.000034 0.000000 0.001308 0.000037 0.000093 0.000000 0.000183 0.001308 36 4 1 0 20 1 9 0 1 218162 11732 29370 9070 15292 27270 96438 23526 5464 0.000018 0.000000 0.000000 0.000000 0.000131 0.000000 0.000021 0.000000 0.000000 2 0 0 0 1 0 1 0 0 32 4 1 0 18 1 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.602 R Arg CGA 0.110 Q Gln CAA 0.256 402 12 3 Macaque 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.61 II.83 255 PASS . . . . . . 0.0004 . 0.002 . . . USP17L1P:uc031taa.1:exon1:c.G1205A:p.R402Q USP17L1:NM_001256873:exon1:c.G1205A:p.R402Q . . 0.5543478 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.097 . @ . . . . . 1 0.055 . . 92.0 . . . . . . . . . . -0.5030 -0.256 -0.503 n . . . . . 1.260e-04 . . . 0.0013 0.0003 0 0.0020 0 0.0003 0 0 0.0009 0.0003 0 0.0027 0 0.0002 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.098 0.0004 . . . . . . ENSG00000230549 USP17L1P USP17L1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.225 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . 0.049 . HET 0.44 rs543951582 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0.0004 0.0002 3.493e-05 0 0.0015 0 0.0001 0.0002 3.667e-05 0.0002 4.069e-05 0 0 0 0 0 0 . . 0.009 . . . . . . . . 1.0E-255 0.000 0.063 . 0.043 0.002 . 0.011 . 0.279 . 0.345 . . . . . 1 1538 10 1/0 0,255,255 +rs4840282 8 7319059 G T - SPAG11B 14534 Sperm associated antigen 11B NM_058201.2 -1 718 402 NP_478108.2 substitution intron GRCh37 7319059 7319059 Chr8(GRCh37):g.7319059G>T 214+1170 214+1170 NM_058201.2:c.214+1170C>A p.? p.? 2 2 606560 1170 5' 95.331 X.37 0.996525 11.1354 95.331 X.37 0.996525 11.1354 0 rs4840282 yes no Frequency/1000G 2 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.047 0.205 111 PASS 0.94 0.98 0.99 1. 0.99 . . . . . . . . . . . 1.0 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.1953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.3 182 ENSG00000164871 SPAG11B SPAG11B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs200271729 0.022 0.014 . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs4840282 rs4840282 rs4840282 rs200271729 1 1538 255 1.I 0,0,255 +rs62639778 8 7345253 T A - DEFB106A 18088 Defensin, beta 106A NM_152251.3 -1 303 198 NP_689464.1 Q8N104 substitution upstream GRCh37 7345253 7345253 Chr8(GRCh37):g.7345253T>A -1349 -1349 NM_152251.3:c.-1349A>T p.? p.? 1 -1398 5' 82.5196 8.59441 0.940318 V.93 82.5196 8.59441 0.940318 V.93 0 Cryptic Acceptor Strongly Activated 7345248 8.06825 0.566842 84.9635 9.65205 0.856943 91.1571 rs62639778 yes no Frequency/1000G 2 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM116177|COSM116177|COSM116177 Ovary|Large intestine|Haematopoietic and lymphoid tissue 0.001179|0.000901|0.001133 848|2220|3530 transversion A T A>T 0.000 -0.117 255 PASS 0.05 0.08 0.09 0.06 0.1 . . . . . . ENSG00000186599:ENST00000335510:exon1:c.T11A:p.I4N DEFB105A:uc011kwp.2:exon1:c.T11A:p.I4N . . . 0.4680851 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.092 . . 47.0 . . . . . . . . . . -1.0676 -1.189 -1.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 @ . . . 0.49 0.35 182 ENSG00000186599 DEFB105A . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.247 . . . . T 0.012 0.001 . . 37 . 0.006 . . 0.044 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.055 . . . . . 0.040 . 0.084 . HET 0.34 rs62639778 . . . . . . . 0.07738095238095238 0.046747967479674794 0.08839779005524862 0.06468531468531469 0.10158311345646438 2.368 . ENST00000335510 I.78 -0.235 . 0.220000 Q8NG35 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.079 -0.079000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.156 0.066 . 0.156 . 0.086 -0.079 -0.745 0.1 rs62639778 rs62639778 rs62639778 rs200831596 1 1538 10 1/0 0,255,255 +rs62639778 8 7345253 T A - DEFB106B 28879 Defensin, beta 106B NM_001040704.1 -1 303 198 NP_001035794.1 Q8N104 substitution upstream GRCh37 7345253 7345253 Chr8(GRCh37):g.7345253T>A -1349 -1349 NM_001040704.1:c.-1349A>T p.? p.? 1 -1398 5' 82.5196 8.59441 0.940318 V.93 82.5196 8.59441 0.940318 V.93 0 Cryptic Acceptor Strongly Activated 7345248 8.06825 0.566842 84.9635 9.65205 0.856943 91.1571 rs62639778 yes no Frequency/1000G 2 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM116177|COSM116177|COSM116177 Ovary|Large intestine|Haematopoietic and lymphoid tissue 0.001179|0.000901|0.001133 848|2220|3530 transversion A T A>T 0.000 -0.117 255 PASS 0.05 0.08 0.09 0.06 0.1 . . . . . . ENSG00000186599:ENST00000335510:exon1:c.T11A:p.I4N DEFB105A:uc011kwp.2:exon1:c.T11A:p.I4N . . . 0.4680851 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.092 . . 47.0 . . . . . . . . . . -1.0676 -1.189 -1.068 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.124 @ . . . 0.49 0.35 182 ENSG00000186599 DEFB105A . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.247 . . . . T 0.012 0.001 . . 37 . 0.006 . . 0.044 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.055 . . . . . 0.040 . 0.084 . HET 0.34 rs62639778 . . . . . . . 0.07738095238095238 0.046747967479674794 0.08839779005524862 0.06468531468531469 0.10158311345646438 2.368 . ENST00000335510 I.78 -0.235 . 0.220000 Q8NG35 . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.079 -0.079000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.156 0.066 . 0.156 . 0.086 -0.079 -0.745 0.1 rs62639778 rs62639778 rs62639778 rs200831596 1 1538 10 1/0 0,255,255 +rs62639779 (chr8:7347154 C/G) 8 7347154 C G Not on a known gene +. (chr8:7408838 A/G) 8 7408838 A G No Alamut gene - other known genes: FAM90A6P FAM90A6P +. (chr8:7427612 A/G) 8 7427612 A G No Alamut gene - other known genes: FAM90A21P, FAM90A22 FAM90A21P +. (chr8:7429541 C/G) 8 7429541 C G No Alamut gene - other known genes: FAM90A21P, FAM90A22 FAM90A21P +. (chr8:7431672 C/A) 8 7431672 C A No Alamut gene - other known genes: FAM90A22 FAM90A22 +. (chr8:7437190 C/G) 8 7437190 C G No Alamut gene - other known genes: FAM90A22, FAM90A23 FAM90A22 +. (chr8:7439321 C/A) 8 7439321 C A No Alamut gene - other known genes: FAM90A23 FAM90A23 +. (chr8:7449673 C/G) 8 7449673 C G No Alamut gene - other known genes: OR7E157P OR7E157P +rs200844447 (chr8:7532719 T/C) 8 7532719 T C Not on a known gene +. (chr8:7563291 G/C) 8 7563291 G C Not on a known gene +. 8 7575076 G A - FAM90A14 32262 Family with sequence similarity 90, member A14 NM_001164452.1 1 1395 1395 NP_001157924.1 P0C7W9 substitution missense exon GRCh37 7575076 7575076 Chr8(GRCh37):g.7575076G>A 496 496 NM_001164452.1:c.496G>A p.Ala166Thr p.Ala166Thr 4 613050 64 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.7247 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 4 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1123 Genomes transition G A G>A 0.004 -1.489 A Ala GCT 0.263 T Thr ACT 0.243 166 14 3 Gorilla 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 103.97 0.00 Tolerated 1 II.61 good 9.878E-1 0.004312 184 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000189393 . . . dist\x3d143156\x3bdist\x3d52030 dist\x3d143156\x3bdist\x3d52030 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs760757539 8 7575095 A C - FAM90A14 32262 Family with sequence similarity 90, member A14 NM_001164452.1 1 1395 1395 NP_001157924.1 P0C7W9 substitution missense exon GRCh37 7575095 7575095 Chr8(GRCh37):g.7575095A>C 515 515 NM_001164452.1:c.515A>C p.Glu172Ala p.Glu172Ala 4 613050 83 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 Cryptic Acceptor Strongly Activated 7575108 3.43036 0.008159 73.1183 III.46 0.032551 75.8112 rs760757539 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 8 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.004 0.125 E Glu GAA 0.417 A Ala GCA 0.226 172 14 4 Rat -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 203.79 1.I Tolerated 0.72 II.61 good 1.614E-1 0.3624 220 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4234 . . . . . . . . 3.759e-03 . . . . . . . . . . . . 0 . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.62 0.31 182 ENSG00000189393 . . . dist\x3d143175\x3bdist\x3d52011 dist\x3d143175\x3bdist\x3d52011 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.17 rs760757539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs2680453 rs2680453 rs2680453 rs2680453 1 1538 10 1/0 0,244,255 +. 8 7575416 G A - FAM90A14 32262 Family with sequence similarity 90, member A14 NM_001164452.1 1 1395 1395 NP_001157924.1 P0C7W9 substitution missense exon GRCh37 7575416 7575416 Chr8(GRCh37):g.7575416G>A 836 836 NM_001164452.1:c.836G>A p.Gly279Asp p.Gly279Asp 4 613050 404 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 15722 Exomes transition G A G>A 0.000 0.690 G Gly GGC 0.342 D Asp GAC 0.539 279 14 9 Elephant -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 244.41 40.46 Tolerated 0.13 II.61 good 8.664E-2 0.09977 192 PASS . . . . . . . . . . . . . . . . 0.14130434 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 92.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000189393 . . . dist\x3d143496\x3bdist\x3d51690 dist\x3d143496\x3bdist\x3d51690 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . 0 . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs80165277 rs80165277 1 1538 10 1/0 0,233,255 +. 8 7575809 C A - FAM90A14 32262 Family with sequence similarity 90, member A14 NM_001164452.1 1 1395 1395 NP_001157924.1 P0C7W9 substitution missense exon GRCh37 7575809 7575809 Chr8(GRCh37):g.7575809C>A 1229 1229 NM_001164452.1:c.1229C>A p.Ala410Glu p.Ala410Glu 4 613050 797 3' 93.5465 13.6284 0.995051 15.995 93.5465 13.6284 0.995051 15.995 0 transversion C A C>A 0.000 -0.279 A Ala GCG 0.107 E Glu GAG 0.583 410 14 2 Chimp -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Deleterious 0.04 II.62 good 2.635E-2 0.02903 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 37.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000189393 . . . dist\x3d143889\x3bdist\x3d51297 dist\x3d143889\x3bdist\x3d51297 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7582763 G A - FAM90A18 32266 Family with sequence similarity 90, member A18 NM_001164451.1 1 1395 1395 NP_001157923.1 A6NE21 substitution missense exon GRCh37 7582763 7582763 Chr8(GRCh37):g.7582763G>A 535 535 NM_001164451.1:c.535G>A p.Val179Ile p.Val179Ile 4 613052 103 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 transition G A G>A 0.000 -1.086 V Val GTC 0.240 I Ile ATC 0.481 179 14 4 Macaque 3 3 4 0 0 5.IX 5.II 84 111 29 C0 272.33 0.00 Tolerated 0.27 II.62 good 7.706E-1 0.5782 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000231656 . . . dist\x3d150843\x3bdist\x3d44343 dist\x3d150843\x3bdist\x3d44343 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7582763 G A - FAM90A19 32267 Family with sequence similarity 90, member A19 NM_001164449.1 1 1395 1395 NP_001157921.1 A6NE21 substitution missense exon GRCh37 7582763 7582763 Chr8(GRCh37):g.7582763G>A 535 535 NM_001164449.1:c.535G>A p.Val179Ile p.Val179Ile 4 613053 103 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 transition G A G>A 0.000 -1.086 V Val GTC 0.240 I Ile ATC 0.481 179 14 4 Macaque 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.52 II.71 good 8.731E-1 0.6763 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 14.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000231656 . . . dist\x3d150843\x3bdist\x3d44343 dist\x3d150843\x3bdist\x3d44343 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 7583029 G A - FAM90A18 32266 Family with sequence similarity 90, member A18 NM_001164451.1 1 1395 1395 NP_001157923.1 A6NE21 substitution synonymous exon GRCh37 7583029 7583029 Chr8(GRCh37):g.7583029G>A 801 801 NM_001164451.1:c.801G>A p.Ser267= p.Ser267Ser 4 613052 369 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 Cryptic Acceptor Weakly Activated 7583046 2.05351 0.041136 71.2642 2.98272 0.043604 71.2642 transition G A G>A 0.000 -0.844 S Ser TCG 0.056 S Ser TCA 0.148 267 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 6.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000231656 . . . dist\x3d151109\x3bdist\x3d44077 dist\x3d151109\x3bdist\x3d44077 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 8 7583029 G A - FAM90A19 32267 Family with sequence similarity 90, member A19 NM_001164449.1 1 1395 1395 NP_001157921.1 A6NE21 substitution synonymous exon GRCh37 7583029 7583029 Chr8(GRCh37):g.7583029G>A 801 801 NM_001164449.1:c.801G>A p.Ser267= p.Ser267Ser 4 613053 369 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 Cryptic Acceptor Weakly Activated 7583046 2.05351 0.041136 71.2642 2.98272 0.043604 71.2642 transition G A G>A 0.000 -0.844 S Ser TCG 0.056 S Ser TCA 0.148 267 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 6.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000231656 . . . dist\x3d151109\x3bdist\x3d44077 dist\x3d151109\x3bdist\x3d44077 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. (chr8:7590883 C/A) 8 7590883 C A No Alamut gene - other known genes: FAM90A16 FAM90A16 +. (chr8:7590893 A/T) 8 7590893 A T No Alamut gene - other known genes: FAM90A16 FAM90A16 +. (chr8:7590912 C/T) 8 7590912 C T No Alamut gene - other known genes: FAM90A16 FAM90A16 +. (chr8:7590956 C/A) 8 7590956 C A No Alamut gene - other known genes: FAM90A16 FAM90A16 +rs369674414 8 7596685 C T - FAM90A8 32256 Family with sequence similarity 90, member A8 NM_001164450.1 1 1395 1395 NP_001157922.1 A6NJQ4 substitution missense exon GRCh37 7596685 7596685 Chr8(GRCh37):g.7596685C>T 283 283 NM_001164450.1:c.283C>T p.Pro95Ser p.Pro95Ser 2 613045 -41 5' 89.5524 9.59704 0.996047 7.83504 89.5524 9.59704 0.996047 7.51724 0 Cryptic Acceptor Strongly Activated 7596697 I.21 7,00E-06 61.2829 2.57432 1.2e-05 64.5976 rs369674414 no no 0 0.000000 0 0.004115 0.000000 0.000000 0.000000 0.000000 0.142857 0.000000 0.000000 0.000000 0.142857 2 0 0 0 0 2 0 0 0 486 326 68 8 4 14 46 10 10 0.500000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 64 Exomes transition C T C>T 0.000 -1.086 P Pro CCC 0.328 S Ser TCC 0.220 95 14 10 Cape rock hyrax -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Deleterious 0.05 II.58 good 2.641E-2 0.00742 255 PASS . . . . . . . . . . . . . . . . 0.55 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 20.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000224710 . . . dist\x3d164765\x3bdist\x3d30421 dist\x3d164765\x3bdist\x3d30421 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs369674414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0041 0 0 0 0 0 0 0.1429 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369674414 rs369674414 1 1538 10 1/0 0,255,255 +. 8 7600823 T C - FAM90A8 32256 Family with sequence similarity 90, member A8 NM_001164450.1 1 1395 1395 NP_001157922.1 A6NJQ4 substitution downstream GRCh37 7600823 7600823 Chr8(GRCh37):g.7600823T>C *1905 *1905 NM_001164450.1:c.*1905T>C p.? p.? 4 613045 2868 3' 93.5465 13.6284 0.995051 16.8886 93.5465 13.6284 0.995051 16.8886 0 transition T C T>C 0.004 -1.328 205 PASS . . . . . . . . . . . . . . . . 0.175 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d1905\x3bdist\x3d2733 dist\x3d168903\x3bdist\x3d26283 dist\x3d168903\x3bdist\x3d26283 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr8:7600945 T/C) 8 7600945 T C No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606178 C/A) 8 7606178 C A No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606188 A/T) 8 7606188 A T No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606207 C/T) 8 7606207 C T No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606251 C/A) 8 7606251 C A No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7606324 A/G) 8 7606324 A G No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7608471 T/C) 8 7608471 T C No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7608593 T/C) 8 7608593 T C No Alamut gene - other known genes: FAM90A17 FAM90A17 +. (chr8:7613443 C/T) 8 7613443 C T Not on a known gene +. (chr8:7613620 G/A) 8 7613620 G A Not on a known gene +. (chr8:7621002 G/A) 8 7621002 G A Not on a known gene +rs181589427 (chr8:7621268 G/A) 8 7621268 G A Not on a known gene +. (chr8:7621303 G/A) 8 7621303 G A Not on a known gene +. (chr8:7621474 C/A) 8 7621474 C A Not on a known gene +. (chr8:7621484 A/T) 8 7621484 A T Not on a known gene +. (chr8:7621503 C/T) 8 7621503 C T Not on a known gene +. (chr8:7621547 C/A) 8 7621547 C A Not on a known gene +rs370825034 (chr8:7621620 A/G) 8 7621620 A G Not on a known gene +rs796757886 (chr8:7621838 G/C) 8 7621838 G C Not on a known gene +. (chr8:7623768 T/C) 8 7623768 T C Not on a known gene +. 8 7636826 T C - PRR23D1 49420 Proline rich 23 domain containing 1 NM_001282479.1 -1 1588 840 NP_001269408.1 P0DMB1 substitution missense exon GRCh37 7636826 7636826 Chr8(GRCh37):g.7636826T>C 697 697 NM_001282479.1:c.697A>G p.Ser233Gly p.Ser233Gly 4 490 3' 85.9128 VIII.51 0.788531 4.19806 85.9128 VIII.51 0.788531 4.19806 0 Cryptic Acceptor Strongly Activated 7636818 0.076051 IV.44 0.128519 73.9934 transition A G A>G 0.000 -0.117 S Ser AGT 0.149 G Gly GGT 0.162 233 12 4 Cape rock hyrax 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 87.36 32.04 Tolerated 0.35 3.IX 215 PASS . . . . . . . . . . . ENSG00000255378:ENST00000528972:exon4:c.A697G:p.S233G . . . . 0.19935691 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.118 . . 311.0 . . . . . . . . . . -0.7316 -0.974 -0.732 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV . . . exonic intergenic exonic . . 0.116 @ . . . 0.46 0.36 182 ENSG00000255378 . . . dist\x3d7991\x3bdist\x3d32416 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.917 0.329 . . 37 . 0.346 . . 0.406 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.185 . . . . . 0.082 . 0.021 . HET . . . . . . . . . . . . . . III.76 . ENST00000528972 1.IX -0.436 . 0.110000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.117 -0.117000 . . 0.110000 . . 1.0E-215 0.001 0.137 . 0.143 0.038 . 0.236 . 0.272 -0.117 0.158 . rs62639824 rs62639824 rs62639824 rs62639824 1 1538 10 1/0 0,186,255 +. 8 7636826 T C - PRR23D2 49396 Proline rich 23 domain containing 2 NM_001282478.1 -1 1587 840 NP_001269407.1 E9PI22 substitution missense exon GRCh37 7636826 7636826 Chr8(GRCh37):g.7636826T>C 697 697 NM_001282478.1:c.697A>G p.Ser233Gly p.Ser233Gly 4 490 3' 85.9128 VIII.51 0.788531 4.19806 85.9128 VIII.51 0.788531 4.19806 0 Cryptic Acceptor Strongly Activated 7636818 0.076051 IV.44 0.128519 73.9934 transition A G A>G 0.000 -0.117 S Ser AGT 0.149 G Gly GGT 0.162 233 12 4 Cape rock hyrax 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 87.36 32.04 Tolerated 0.35 3.IX 215 PASS . . . . . . . . . . . ENSG00000255378:ENST00000528972:exon4:c.A697G:p.S233G . . . . 0.19935691 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.118 . . 311.0 . . . . . . . . . . -0.7316 -0.974 -0.732 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV . . . exonic intergenic exonic . . 0.116 @ . . . 0.46 0.36 182 ENSG00000255378 . . . dist\x3d7991\x3bdist\x3d32416 . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.917 0.329 . . 37 . 0.346 . . 0.406 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.461 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.185 . . . . . 0.082 . 0.021 . HET . . . . . . . . . . . . . . III.76 . ENST00000528972 1.IX -0.436 . 0.110000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.117 -0.117000 . . 0.110000 . . 1.0E-215 0.001 0.137 . 0.143 0.038 . 0.236 . 0.272 -0.117 0.158 . rs62639824 rs62639824 rs62639824 rs62639824 1 1538 10 1/0 0,186,255 +rs776701113 8 7707535 C A - SPAG11A 33342 Sperm associated antigen 11A NM_001081552.2 1 756 327 NP_001075021.2 substitution intron GRCh37 7707535 7707535 Chr8(GRCh37):g.7707535C>A 214+1170 214+1170 NM_001081552.2:c.214+1170C>A p.? p.? 2 2 1170 5' 95.331 X.37 0.996525 11.1354 95.331 X.37 0.996525 11.1354 0 rs776701113 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.287 0.448 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . 0.2802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.25 182 ENSG00000178287 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs776701113 . . . . . . . . . . . . . . . . . . . . 0.0001 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs4840282 rs4840282 rs4840282 rs4840282 1 1538 255 1.I 0,0,255 +. 8 7716887 A G - SPAG11A 33342 Sperm associated antigen 11A NM_001081552.2 1 756 327 NP_001075021.2 substitution intron GRCh37 7716887 7716887 Chr8(GRCh37):g.7716887A>G 215-1281 215-1281 NM_001081552.2:c.215-1281A>G p.? p.? 3 2 -1281 3' 81.6381 X.45 0.939234 7.16437 81.6381 X.45 0.939234 7.16437 0 New Donor Site 7716886 4.30072 0.680014 81.3359 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 8076 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.5531915 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||SPAG11A|mRNA|CODING|NM_001081552|) . . . . . . . -0.5293 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.25 0.29 182 ENSG00000178287 SPAG11A SPAG11A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2853656 rs2853656 rs2853656 rs2853656 1 1538 10 1/0 0,255,255 +. 8 7825599 C T - FAM66E 18735 Family with sequence similarity 66, member E NR_027424.1 1 1434 0 substitution intron GRCh37 7825599 7825599 Chr8(GRCh37):g.7825599C>T 610+6781 610+6781 NR_027424.1:n.610+6781C>T p.? p.? 2 2 6781 5' 89.8591 9.60237 0.947044 7.43288 89.8591 9.60237 0.947044 7.43288 0 Cryptic Acceptor Strongly Activated 7825611 1.77294 0.000993 66.7518 II.11 0.001546 70.0664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3014 2816 24 0 8 0 110 42 14 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 30 Genomes transition C T C>T 0.992 2.385 255 PASS . . . . . . . . . . . . . . . . 0.59090906 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.57 0.25 182 ENSG00000255211 FAM66E FAM66E . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4841747 rs4841747 rs4841747 rs4841747 1 1538 10 1/0 0,255,255 +. 8 7830291 T A - FAM66E 18735 Family with sequence similarity 66, member E NR_027424.1 1 1434 0 substitution intron GRCh37 7830291 7830291 Chr8(GRCh37):g.7830291T>A 610+11473 610+11473 NR_027424.1:n.610+11473T>A p.? p.? 2 2 11473 5' 89.8591 9.60237 0.947044 7.43288 89.8591 9.60237 0.947044 7.43288 0 0.000401 0.000481 0.000000 0.000000 0.000000 0.001724 0.000000 0.000000 0.000000 0.001724 6 4 0 0 0 2 0 0 0 14956 8324 1802 192 1186 1160 1928 86 278 0.000134 0.000240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 4 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 1.000 1.820 225 PASS . . . . . . . . . . . . USP17L8:uc031tae.1:exon1:c.A485T:p.H162L USP17L8:NM_001256872:exon1:c.A485T:p.H162L . . 0.23809524 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.077 . . 21.0 . . . . . . . . . . 0.2420 -0.124 0.242 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.158 @ . . . . . . ENSG00000237038 USP17L8 USP17L8 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.896 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.151 . 0.511 . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.297 . . . 0.0005 0.0004 0 0 0 0 0 0 0.0017 0.0005 0.0005 0 0 0 0 0 0 . . 0.013 . . . . . . . . 1.0E-225 0.991 0.370 . 0.164 0.963 . 0.514 . 0.270 . 0.609 . . . . . 1 1538 10 1/0 0,255,255 +. 8 7830291 T A - USP17L8 37181 Ubiquitin specific peptidase 17-like family member 8 NM_001256872.1 -1 1593 1593 NP_001243801.1 P0C7I0 substitution missense exon GRCh37 7830291 7830291 Chr8(GRCh37):g.7830291T>A 485 485 NM_001256872.1:c.485A>T p.His162Leu p.His162Leu 1 0.000401 0.000481 0.000000 0.000000 0.000000 0.001724 0.000000 0.000000 0.000000 0.001724 6 4 0 0 0 2 0 0 0 14956 8324 1802 192 1186 1160 1928 86 278 0.000134 0.000240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 4 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 1.000 1.820 H His CAT 0.413 L Leu CTT 0.129 162 -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 225 PASS . . . . . . . . . . . . USP17L8:uc031tae.1:exon1:c.A485T:p.H162L USP17L8:NM_001256872:exon1:c.A485T:p.H162L . . 0.23809524 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.077 . . 21.0 . . . . . . . . . . 0.2420 -0.124 0.242 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.158 @ . . . . . . ENSG00000237038 USP17L8 USP17L8 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.896 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.151 . 0.511 . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.297 . . . 0.0005 0.0004 0 0 0 0 0 0 0.0017 0.0005 0.0005 0 0 0 0 0 0 . . 0.013 . . . . . . . . 1.0E-225 0.991 0.370 . 0.164 0.963 . 0.514 . 0.270 . 0.609 . . . . . 1 1538 10 1/0 0,255,255 +. 8 7834303 C T - FAM66E 18735 Family with sequence similarity 66, member E NR_027424.1 1 1434 0 substitution intron GRCh37 7834303 7834303 Chr8(GRCh37):g.7834303C>T 611-8391 611-8391 NR_027424.1:n.611-8391C>T p.? p.? 3 2 -8391 3' 84.6746 VII.89 0.990338 7.89888 84.6746 VII.89 0.990338 7.89888 0 transition C T C>T 0.000 -1.409 255 PASS . . . . . . . . . . . . USP17L3:uc031taf.1:exon1:c.G1205A:p.R402Q USP17L3:NM_001256871:exon1:c.G1205A:p.R402Q . . 0.3529412 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.031 . . 17.0 . . . . . . . . . . -0.5017 -0.251 -0.502 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.084 @ . . . . . . ENSG00000225327 USP17L3 USP17L3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.225 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.048 . 0.043 . HET 0.45 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . . . . . . 1.0E-255 0.038 0.207 . 0.108 0.054 . 0.279 . 0.268 . 0.057 . . . . . 1 1538 10 1/0 0,255,255 +. 8 7834303 C T - USP17L3 37175 Ubiquitin specific peptidase 17-like family member 3 NM_001256871.1 -1 1593 1593 NP_001243800.1 A6NCW0 substitution missense exon GRCh37 7834303 7834303 Chr8(GRCh37):g.7834303C>T 1205 1205 NM_001256871.1:c.1205G>A p.Arg402Gln p.Arg402Gln 1 transition G A G>A 0.000 -1.409 R Arg CGA 0.110 Q Gln CAA 0.256 402 1 1 1 0.65 0.89 10.V 10.V 124 85 43 255 PASS . . . . . . . . . . . . USP17L3:uc031taf.1:exon1:c.G1205A:p.R402Q USP17L3:NM_001256871:exon1:c.G1205A:p.R402Q . . 0.3529412 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.031 . . 17.0 . . . . . . . . . . -0.5017 -0.251 -0.502 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.084 @ . . . . . . ENSG00000225327 USP17L3 USP17L3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.225 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.048 . 0.043 . HET 0.45 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . . . . . . 1.0E-255 0.038 0.207 . 0.108 0.054 . 0.279 . 0.268 . 0.057 . . . . . 1 1538 10 1/0 0,255,255 +rs199904548 8 7834512 G A - FAM66E 18735 Family with sequence similarity 66, member E NR_027424.1 1 1434 0 substitution intron GRCh37 7834512 7834512 Chr8(GRCh37):g.7834512G>A 611-8182 611-8182 NR_027424.1:n.611-8182G>A p.? p.? 3 2 -8182 3' 84.6746 VII.89 0.990338 7.89888 84.6746 VII.89 0.990338 7.89888 0 rs199904548 yes no Frequency 1 G 0.000000 0 0.000358 0.000000 0.000000 0.000000 0.000000 0.000000 0.002048 0.000000 0.000000 0.002048 6 0 0 0 0 0 6 0 0 16754 8972 1322 360 788 1080 2930 986 316 0.000358 0.000000 0.000000 0.000000 0.000000 0.000000 0.002048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 0.044 250 PASS . . . . . . . . . . . . USP17L3:uc031taf.1:exon1:c.C996T:p.D332D USP17L3:NM_001256871:exon1:c.C996T:p.D332D . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1527 . . . . . . . . 2.946e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.54 0.23 182 ENSG00000225327 USP17L3 USP17L3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199904548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0 0.0027 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs13274255 rs13274255 1 1538 10 1/0 0,255,255 +rs199904548 8 7834512 G A - USP17L3 37175 Ubiquitin specific peptidase 17-like family member 3 NM_001256871.1 -1 1593 1593 NP_001243800.1 A6NCW0 substitution synonymous exon GRCh37 7834512 7834512 Chr8(GRCh37):g.7834512G>A 996 996 NM_001256871.1:c.996C>T p.Asp332= p.Asp332Asp 1 rs199904548 yes no Frequency 1 G 0.000000 0 0.000358 0.000000 0.000000 0.000000 0.000000 0.000000 0.002048 0.000000 0.000000 0.002048 6 0 0 0 0 0 6 0 0 16754 8972 1322 360 788 1080 2930 986 316 0.000358 0.000000 0.000000 0.000000 0.000000 0.000000 0.002048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 1.000 0.044 D Asp GAC 0.539 D Asp GAT 0.461 332 250 PASS . . . . . . . . . . . . USP17L3:uc031taf.1:exon1:c.C996T:p.D332D USP17L3:NM_001256871:exon1:c.C996T:p.D332D . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1527 . . . . . . . . 2.946e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.54 0.23 182 ENSG00000225327 USP17L3 USP17L3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199904548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0 0.0027 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs13274255 rs13274255 1 1538 10 1/0 0,255,255 +. (chr8:7870423 C/T) 8 7870423 C T No Alamut gene - other known genes: FAM90A11 FAM90A11 +. (chr8:7870560 A/G) 8 7870560 A G No Alamut gene - other known genes: FAM90A11 FAM90A11 +. (chr8:7872011 T/C) 8 7872011 T C No Alamut gene - other known genes: FAM90A11 FAM90A11 +. 8 7875483 A G - FAM90A9P 32257 Family with sequence similarity 90, member A9, pseudogene XR_956606.1 -1 2098 0 substitution downstream GRCh37 7875483 7875483 Chr8(GRCh37):g.7875483A>G *1218 *1218 XR_956606.1:n.*1218T>C p.? p.? 4 613046 2990 3' 93.5465 11.812 0.993368 13.6054 93.5465 11.812 0.993368 13.6054 0 Cryptic Donor Strongly Activated 7875488 0.005015 61.1523 3.15785 0.009482 60.849 0.000465 0.000000 0.000000 0.000000 0.002315 0.000000 0.000600 0.000000 0.000000 0.002315 3 0 0 0 1 0 2 0 0 6450 1474 202 70 432 0 3332 742 198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition T C T>C 0.020 0.125 207 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 33.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic intergenic . . . @ . . . 0.5 0.21 182 ENSG00000233115 . . . dist\x3d9206\x3bdist\x3d70980 dist\x3d9206\x3bdist\x3d70980 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0 0.0023 0 0.0006 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs80341426 8 7878417 G T - FAM90A9P 32257 Family with sequence similarity 90, member A9, pseudogene XR_956606.1 -1 2098 0 substitution exon GRCh37 7878417 7878417 Chr8(GRCh37):g.7878417G>T 382 382 XR_956606.1:n.382C>A 4 613046 56 3' 93.5465 11.812 0.993368 13.6054 93.5465 11.812 0.993368 13.5044 0 rs80341426 yes no Frequency 1 0.000000 0 0.004673 0.000350 0.005515 0.008197 0.041841 0.000000 0.002514 0.007519 0.003788 0.041841 87 2 3 1 40 0 21 18 2 18616 5718 544 122 956 0 8354 2394 528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 2 3 1 40 0 21 18 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion C A C>A 0.000 -1.247 222 PASS . . . . . . . . . . . . . . . . 0.21854305 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 151.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.38 0.24 182 ENSG00000215354 . . . dist\x3d12140\x3bdist\x3d68046 dist\x3d12140\x3bdist\x3d68046 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.15 rs80341426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0047 0.0055 0.0082 0.0418 0.0075 0.0025 0.0038 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . rs71216141 rs71216141 rs200525855 1 1538 10 1/0 0,220,255 +. (chr8:7883233 G/A) 8 7883233 G A No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +. (chr8:7883251 A/G) 8 7883251 A G No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +. (chr8:7885396 T/C) 8 7885396 T C No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +. (chr8:7885440 A/G) 8 7885440 A G No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +rs201383242 (chr8:7885475 C/T) 8 7885475 C T No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +rs199679475 (chr8:7885507 C/T) 8 7885507 C T No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +rs199541074 (chr8:7885546 G/T) 8 7885546 G T No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +. (chr8:7886901 A/G) 8 7886901 A G No Alamut gene - other known genes: FAM90A24P, FAM90A12 FAM90A24P +rs9657518 8 10467589 T C - RP1L1 15946 Retinitis pigmentosa 1-like 1 NM_178857.5 -1 7978 7203 NP_849188.4 substitution missense exon GRCh37 10467589 10467589 Chr8(GRCh37):g.10467589T>C 4019 4019 NM_178857.5:c.4019A>G p.Glu1340Gly p.Glu1340Gly 4 608581 3268 3' 78.0103 6.24325 0.822213 VI.48 78.0103 6.24325 0.822213 VI.48 0 rs9657518 yes no Frequency/HapMap/1000G 3 T benign 0.000000 0 0.441494 0.379700 0.530700 0.525800 0.343900 0.452400 RCV000368596.1 germline clinical testing Benign 1 Occult macular dystrophy COSM4162581|COSM4162581|COSM4162581|COSM4162581 Upper aerodigestive tract|Thyroid|Skin|Large intestine 0.011254|0.001339|0.000812|0.000443 1244|747|1232|2256 transition A G A>G 0.000 0.367 E Glu GAA 0.417 G Gly GGA 0.246 1340 8 3 Mouse -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 95.14 65.34 Tolerated 0.13 III.54 bad 9.586E-3 0.03267 255 PASS . . . . . 0.38 0.44 0.45 0.53 0.34 0.53 ENSG00000183638:ENST00000382483:exon4:c.A4019G:p.E1340G RP1L1:uc003wtc.3:exon4:c.A4019G:p.E1340G RP1L1:NM_178857:exon4:c.A4019G:p.E1340G . . 0.33766234 . . germline 52 . . 1.2.2016 1 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.169 . Benign Benign RCV000368596.1 Occult_macular_dystrophy MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 1 0.128 . . 154.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1340G|RP1L1|mRNA|CODING|NM_178857|NM_178857.ex.4) . . . . . . . -0.7788 -0.956 -0.779 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.048 . . exonic exonic exonic . . 0.232 0.4415 . . . 0.15 0.3 182 ENSG00000183638 RP1L1 RP1L1 . . . 0.000 0.053 . 19779 0.304405 64976 17937 0.29902 59986 Benign . 0 . . . . . . . . . . . 37 . 0.043 . . 0.346 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.289 . . 0 0 0 0 0 0 . 0.516 . . 0.462 . . . . . . 0 0.190 . . . . . 0.074 . 0.044 . HET 0.36 rs9657518 0.283 0.217 . . . . . . . . . . III.37 0.196306 ENST00000382483 II.88 I.69 . 0.470000 A6NKC6 . . . . . 0.058 . . . . . . . . . . . . . . . . . . . . . . 0.326 . 0.227 0.227000 . . 0.470000 . . 1.0E-255 0.000 0.063 . 0.132 0.100 . 0.191 . 0.052 0.227 -1.249 0.28 rs9657518 rs9657518 rs9657518 rs9657518 1 1538 10 1/0 0,229,255 +rs4240659 8 10467637 T C - RP1L1 15946 Retinitis pigmentosa 1-like 1 NM_178857.5 -1 7978 7203 NP_849188.4 substitution missense exon GRCh37 10467637 10467637 Chr8(GRCh37):g.10467637T>C 3971 3971 NM_178857.5:c.3971A>G p.Glu1324Gly p.Glu1324Gly 4 608581 3220 3' 78.0103 6.24325 0.822213 VI.48 78.0103 6.24325 0.822213 VI.48 0 rs4240659 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 RCV000315863.1 germline clinical testing VUS 1 Occult macular dystrophy COSM4593645|COSM4593645 Upper aerodigestive tract|Haematopoietic and lymphoid tissue 0.008842|0.000275 1244|3634 transition A G A>G 0.008 -0.037 E Glu GAA 0.417 G Gly GGA 0.246 1324 8 1 -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 225 PASS . . . . . . . . . . . ENSG00000183638:ENST00000382483:exon4:c.A3971G:p.E1324G RP1L1:uc003wtc.3:exon4:c.A3971G:p.E1324G RP1L1:NM_178857:exon4:c.A3971G:p.E1324G . . 0.22916667 . . germline 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.071 . Uncertain//\@significance Uncertain_significance RCV000315863.1 Occult_macular_dystrophy MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 1 0.052 . . 144.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1324G|RP1L1|mRNA|CODING|NM_178857|NM_178857.ex.4) . . . . . . . -1.7651 -1.817 -1.765 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.098 . . exonic exonic exonic . . 0.073 @ . . . 0.2 0.22 182 ENSG00000183638 RP1L1 RP1L1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.051 . . 0.393 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.318 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.270 . . . . . 0.280 . 0.009 . HET 0.43 rs4240659 0.087 0.065 . . . . . . . . . . VII.72 0.10566 ENST00000382483 I.91 -1.85 . 0.290000 A6NKC6 . . . . . 0.071 . . . . . . . . . . . . . . . . . . . . . . 0.326 . -0.966 -0.966000 . . 0.290000 . . 1.0E-225 0.000 0.063 . 0.043 0.117 . 0.083 . 0.005 -0.966 0.158 0.087 rs4240659 rs4240659 rs4240659 rs4240659 1 1538 10 1/0 0,222,255 +rs200397913 8 12030334 T C - FAM90A2P 32250 Family with sequence similarity 90, member A2, pseudogene NR_046354.1 -1 790 0 substitution downstream GRCh37 12030334 12030334 Chr8(GRCh37):g.12030334T>C *629 *629 NR_046354.1:n.*629A>G p.? p.? 5 899 3' 93.5465 13.6284 0.993795 16.9708 93.5465 13.6284 0.993795 16.9708 0 rs200397913 yes no Frequency 1 T 0.000000 0 0.001558 0.001667 0.004149 0.000000 0.007782 0.000000 0.001125 0.000000 0.002475 0.007782 23 9 2 0 4 0 7 0 1 14762 5398 482 168 514 0 6222 1574 404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 9 2 0 4 0 7 0 1 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition A G A>G 0.063 -0.037 218 PASS . . . . . . . . . . . . . . . . 0.21212122 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 33.0 . . DOWNSTREAM(MODIFIER||||FAM90A2P|Non-coding_transcript|NON_CODING|NR_046354|) . . . . . . . -0.3943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic downstream . . . @ . . . 0.52 0.36 182 ENSG00000205879 LOC100506990 FAM90A2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200397913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0016 0.0041 0 0.0078 0 0.0011 0.0025 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs200397913 rs200397913 1 1538 10 1/0 0,255,255 +rs776866199 8 12031050 A C - FAM90A2P 32250 Family with sequence similarity 90, member A2, pseudogene NR_046354.1 -1 790 0 substitution exon GRCh37 12031050 12031050 Chr8(GRCh37):g.12031050A>C 703 703 NR_046354.1:n.703T>G 5 183 3' 93.5465 13.6284 0.993795 16.9708 93.5465 13.6284 0.993795 16.9708 0 rs776866199 no no 0 A 0.000000 0 0.001807 0.004573 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004573 3 3 0 0 0 0 0 0 0 1660 656 22 16 8 0 736 178 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 66 Genomes transversion T G T>G 0.000 -0.682 217 PASS . . . . . . . . . . . . FAM90A2P:uc031tah.1:exon5:c.T615G:p.G205G . . . 0.20689656 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Ggc|C235G|FAM90A2P|Non-coding_transcript|NON_CODING|NR_046354|NR_046354.ex.5) . . . . . . . -0.5774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000205879 FAM90A2P FAM90A2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776866199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0018 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs2740679 8 12216850 T A - FAM85A 17606 Family with sequence similarity 85, member A XR_246651.1 1 1187 0 substitution downstream GRCh37 12216850 12216850 Chr8(GRCh37):g.12216850T>A *156732 *156732 XR_246651.1:n.*156732T>A p.? p.? 3 156860 3' 85.2749 8.95161 0.988797 XI.78 85.2749 8.95161 0.988797 XI.78 0 rs2740679 yes no Frequency/1000G 2 0.000000 0 0.074880 0.146000 0.065400 0.009900 0.076500 0.044700 0.000604 0.001940 0.000000 0.000000 0.000000 0.000000 0.000158 0.000000 0.000000 0.001940 16 14 0 0 0 0 2 0 0 26474 7216 782 262 1608 0 12658 3112 836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 14 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 34 Genomes transversion T A T>A 0.748 -0.440 209 PASS . . . . . 0.15 0.075 0.045 0.0099 0.076 0.065 . . . . . 0.18604651 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . UPSTREAM(MODIFIER||||FAM66A|Non-coding_transcript|NON_CODING|NR_026789|) . . . . . . . -0.8085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . 0.49 0.35 182 ENSG00000215339 LOC100506990 . . . dist\x3d41025\x3bdist\x3d2678 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201463868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0006 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs2740679 rs2740679 rs2740679 rs201463868 1 1538 10 1/0 0,255,255 +rs4081030 8 12216925 A G - FAM85A 17606 Family with sequence similarity 85, member A XR_246651.1 1 1187 0 substitution downstream GRCh37 12216925 12216925 Chr8(GRCh37):g.12216925A>G *156807 *156807 XR_246651.1:n.*156807A>G p.? p.? 3 156935 3' 85.2749 8.95161 0.988797 XI.78 85.2749 8.95161 0.988797 XI.78 0 rs4081030 yes no Frequency/1000G 2 0.000000 0 0.000191 0.000000 0.001295 0.000000 0.000000 0.000000 0.000000 0.001289 0.000000 0.001295 5 0 1 0 0 0 0 4 0 26158 7162 772 256 1588 0 12460 3104 816 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition A G A>G 0.992 -0.440 211 PASS 0.03 0.11 0.11 0.15 0.13 . . . . . . . . . . . 0.19354838 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . UPSTREAM(MODIFIER||||FAM66A|Non-coding_transcript|NON_CODING|NR_026789|) . . . . . . . -0.1596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream ncRNA_intronic intergenic . . . @ . . . 0.47 0.28 182 ENSG00000215339 LOC100506990 . . . dist\x3d41100\x3bdist\x3d2603 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4081030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0013 0 0 0.0013 0 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.15 rs4081030 rs4081030 rs4081030 rs4081030 1 1538 10 1/0 0,255,255 +rs793757 (chr8:12338295 G/A) 8 12338295 G A Not on a known gene +rs2905021 (chr8:12465433 C/G) 8 12465433 C G Not on a known gene +rs34871936 8 17731876 A G - FGL1 3695 Fibrinogen-like 1 NM_201553.1 -1 1464 939 NP_963847.1 Q08830 substitution synonymous exon GRCh37 17731876 17731876 Chr8(GRCh37):g.17731876A>G 399 399 NM_201553.1:c.399T>C p.Phe133= p.Phe133Phe 5 605776 -6 5' 79.6854 6.46173 0.657725 0 79.6854 6.46173 0.870834 0 0.108003 Fibrinogen, alpha/beta/gamma chain, C-terminal globular rs34871936 yes no Frequency/1000G 2 A 0.000000 0 0.004992 0.001500 0.006100 0.000000 0.011900 0.007200 0.008972 0.002625 0.003918 0.013066 0.000000 0.002744 0.014013 0.008548 0.011360 0.014013 2469 63 133 131 0 83 1766 220 73 275180 23996 33948 10026 18772 30250 126026 25736 6426 0.000131 0.000000 0.000000 0.000399 0.000000 0.000000 0.000175 0.000311 0.000311 18 0 0 2 0 0 11 4 1 2433 63 133 127 0 83 1744 212 71 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8483 4393 12876 117 13 130 0.0136047 0.00295052 0.00999539 0.0136047 0.00295052 0.00999539 111 COSM3763222 Large intestine 0.000448 2231 transition T C T>C 0.992 0.609 F Phe TTT 0.454 F Phe TTC 0.546 133 255 PASS 0.002 0.01 0.01 . 0.01 0.0015 0.005 0.0072 . 0.012 0.0061 . . . . . 0.46 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.003 0.01 0.014 0.003 0.01 0.014 . 0.9651 . . . . . . . . 9.181e-03 . . . 0.0023 0.0078 0.0039 0 0.0082 0.0134 0.0014 0.0028 0.0021 0.0086 0.0039 0 0.0082 0.0137 0.0029 0.0028 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0050 . . . 0.17 0.13 182 ENSG00000104760 FGL1 FGL1 . . . . . . 748 0.0115119 64976 723 0.0120528 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34871936 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.009995 . . . . . 0.0026 0.0090 0.0039 0.0128 0 0.0087 0.0142 0.0105 0.0027 0.0027 0.0086 0.0036 0.0232 0 0.0074 0.0126 0.0163 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 rs34871936 rs34871936 rs34871936 rs34871936 1 1538 10 1/0 0,255,255 +rs61910741 8 19263328 C G - CSGALNACT1 24290 Chondroitin sulfate N-acetylgalactosaminyltransferase 1 NM_001130518.1 -1 4282 1599 NP_001123990.1 Q8TDX6 substitution missense exon GRCh37 19263328 19263328 Chr8(GRCh37):g.19263328C>G 1562 1562 NM_001130518.1:c.1562G>C p.Arg521Pro p.Arg521Pro 10 616615 253 3' 89.0103 XI.31 0.916856 7.36741 89.0103 XI.31 0.916856 7.36741 0 Cryptic Acceptor Strongly Activated 19263320 III.84 0.001913 72.8532 5.28801 0.017664 76.2085 rs61910741 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.003781 0.001207 0.002295 0.006600 0.000000 0.001007 0.006174 0.001861 0.001856 0.006600 1048 29 79 67 0 31 782 48 12 277176 24032 34420 10152 18870 30780 126662 25794 6466 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1040 29 79 67 0 31 774 48 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8551 4399 12950 49 7 56 0.00569767 0.00158874 0.00430571 0.00569767 0.00158874 0.00430571 109 COSM3779127 Urinary tract 0.001488 672 transversion G C G>C 1.000 3.918 R Arg CGC 0.190 P Pro CCC 0.328 521 12 8 Frog -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 160.22 0.00 Tolerated 0.23 III.39 unknown 0.0 0.0 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0014 0.0014 . 0.006 . . . . . . 0.38848922 . . @ 54 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.820 . . 139.0 . . . 0.0016 0.0043 0.0057 0.0016 0.0043 0.0057 . 0.7764 0.774 0.776 c . . . . . 4.104e-03 . . . 0.0015 0.0032 0.0019 0 0.0005 0.0055 0.0028 0.0009 0.0017 0.0039 0.0019 0 0.0009 0.0066 0.0014 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.270 . . exonic exonic exonic . . 0.952 0.0014 . . . 0.52 0.62 182 ENSG00000147408 CSGALNACT1 CSGALNACT1 . . . 1.000 0.747 . 246 0.00378601 64976 241 0.0040176 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.507 0.028 . . 37 . 0.400 . . 0.266 . . . 0.659 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.366 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.518 . . . . . 0.588 . 0.819 . HET 0.02 rs61910741 0.011 0.007 . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 13.157 0.001605 . V.91 V.91 . 0.090000 Q8TDX6 . . . 0.004306 . 0.663 . . V.91 0.0010 0.0039 0.0023 0.0066 0 0.0018 0.0063 0.0020 0.0010 0.0015 0.0032 0.0024 0.0066 0 0.0020 0.0049 0.0010 . . 0.301 . 2.802 2.802000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.613 . 0.490 2.802 0.871 0.011 rs61910741 rs61910741 rs61910741 rs61910741 1 1538 10 1/0 0,236,255 +rs184414226 8 21965801 C A - NUDT18 26194 Nudix hydrolase 18 NM_024815.3 -1 1519 972 NP_079091.3 Q6ZVK8 substitution synonymous exon NG_032941.1 6130 6130 NG_032941.1:g.6130G>T 219 219 NM_024815.3:c.219G>T p.Leu73= p.Leu73Leu 2 615791 57 3' 88.6065 9.28357 0.98336 6.18881 88.6065 9.28357 0.98336 5.52077 0 NUDIX hydrolase domain NUDIX hydrolase NUDIX hydrolase domain-like rs184414226 yes no Frequency/1000G 2 C 0.000000 0 0.003994 0.001500 0.002000 0.000000 0.005000 0.015900 0.004991 0.001584 0.003436 0.001504 0.000000 0.001713 0.007753 0.005764 0.004464 0.007753 1220 33 105 14 0 46 863 133 26 244432 20836 30556 9308 16662 26856 111314 23076 5824 0.000033 0.000000 0.000000 0.000000 0.000000 0.000074 0.000018 0.000173 0.000000 4 0 0 0 0 1 1 2 0 1212 33 105 14 0 44 861 129 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8356 4253 12609 74 3 77 0.00877817 0.000704887 0.00606968 0.00877817 0.000704887 0.00606968 33 transversion G T G>T 0.654 L Leu CTG 0.404 L Leu CTT 0.129 73 255 PASS 0.0041 0.0037 0.02 . . 0.0015 0.004 0.016 . 0.005 0.002 ENSG00000173566:ENST00000309188:exon4:c.G219T:p.L73L NUDT18:uc003xaq.1:exon3:c.G219T:p.L73L NUDT18:NM_024815:exon4:c.G219T:p.L73L . . 0.36893204 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.0007 0.0061 0.0088 0.0007 0.0061 0.0088 . -0.6664 . . . . . . . . 4.458e-03 . . . 0.0035 0.0077 0.0081 0 0.0179 0.0115 0.0197 0.0027 0.0028 0.0088 0.0083 0 0.0159 0.0128 0.0211 0.0027 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0040 . . . 0.53 0.59 182 ENSG00000173566 NUDT18 NUDT18 . . . . . . 541 0.00832615 64976 521 0.00868536 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs184414226 . . . . . . . 0.003663003663003663 0.0040650406504065045 0.016574585635359115 0.0 0.0 II.66 8.38E-4 ENST00000522379 5.I -6.89 . . . . . . 0.006070 . . . . . 0.0016 0.0049 0.0035 0.0016 0 0.0057 0.0076 0.0041 0.0017 0.0016 0.0055 0.0024 0 0 0.0060 0.0086 0.0061 . . . . -1.380 -1.380000 . . . . . 1.0E-255 . . . . . . . . . -1.380 . 0.02 . . rs184414226 rs184414226 1 1538 10 1/0 0,250,255 +rs7844183 8 21966891 C A - NUDT18 26194 Nudix hydrolase 18 NM_024815.3 -1 1519 972 NP_079091.3 Q6ZVK8 substitution 5'UTR NG_032941.1 5042 5042 NG_032941.1:g.5042G>T -78 -78 NM_024815.3:c.-78G>T p.? p.? 1 615791 -240 5' 89.8591 9.60237 0.911553 15.5659 89.8591 9.60237 0.911553 15.5659 0 rs7844183 yes no Frequency/1000G 2 C 0.000000 0 0.378395 0.403200 0.422300 0.371000 0.390700 0.262200 0.000836 0.001405 0.000969 0.005208 0.000000 0.011737 0.000381 0.000286 0.000000 0.011737 27 12 1 2 0 5 6 1 0 32284 8540 1032 384 1620 426 15746 3502 1034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 1 2 0 5 7 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.008 207 PASS . . . . . 0.4 0.38 0.26 0.37 0.39 0.42 UNKNOWN NUDT18:uc003xar.1:exon1:c.G472T:p.A158S . . . 0.18 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . I.88 . . . . . . . . 3.091e-04 . . . 0 0 0 . . 0 0 0 0 0 0 0 . 0 0 0 unknown nonsynonymous_SNV . . . . exonic exonic UTR5 . . . 0.3784 . . . 0.35 0.38 182 ENSG00000173566 NUDT18 NUDT18 . . NM_024815:c.-78G>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7844183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.37 0 0.0075 0.0043 0.0222 0 0.0081 0.0057 0 0.0117 0.0014 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs7844183 rs7844183 rs7844183 rs7844183 1 1538 10 1/0 0,255,255 +rs117302411 8 22389029 G A - PPP3CC 9316 Protein phosphatase 3, catalytic subunit, gamma isozyme NM_001243974.1 1 2348 1566 NP_001230903.1 substitution intron GRCh37 22389029 22389029 Chr8(GRCh37):g.22389029G>A 1168+188 1168+188 NM_001243974.1:c.1168+188G>A p.? p.? 11 11 114107 188 5' 71.0451 8.33086 0.815245 1.08327 71.0451 8.33086 0.815245 1.08327 0 rs117302411 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000800 0.003100 0.000000 0.009900 0.005800 0.007907 0.001832 0.007160 0.000000 0.000000 0.000000 0.012190 0.008014 0.012220 0.012190 245 16 6 0 0 0 183 28 12 30984 8734 838 302 1622 0 15012 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245 16 6 0 0 0 183 28 12 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.039 1.416 255 PASS 0.002 0.0027 . . 0.01 0.0008 0.0036 0.0058 . 0.0099 0.0031 . . . . . 0.5652174 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . 1.0436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.65 0.39 182 ENSG00000120910 PPP3CC PPP3CC . . . . . . 812 0.0124969 64976 794 0.0132364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117302411 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . III.85 . . . . . . . . . 0.0018 0.0079 0.0072 0 0 0.0080 0.0122 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs117302411 rs117302411 1 1538 10 1/0 0,255,255 +rs369568765 8 22421893 G A - SORBS3 30907 Sorbin and SH3 domain containing 3 NM_005775.4 1 3123 2016 NP_005766.3 O60504 substitution intron GRCh37 22421893 22421893 Chr8(GRCh37):g.22421893G>A 762+11 762+11 NM_005775.4:c.762+11G>A p.? p.? 9 9 610795 11 5' 86.3702 9.25272 0.98752 9.50282 86.3702 9.25272 0.98752 VIII.07 0 rs369568765 yes no Frequency 1 G 0.000000 0 0.000112 0.000000 0.000058 0.000000 0.000000 0.000000 0.000221 0.000039 0.000000 0.000221 31 0 2 0 0 0 28 1 0 277190 24024 34416 10150 18870 30782 126710 25774 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 0 2 0 0 0 28 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 81 transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.46025103 . . @ 110 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 239.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.4145 . . . . . . . . . . . . 0 8.862e-05 0 0 0 0.0002 0 0 0 9.444e-05 0 0 0 0.0002 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.39 182 ENSG00000120896 SORBS3 SORBS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369568765 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0001 2.978e-05 0 0 4.488e-05 0.0002 0 0 0 9.689e-05 0.0012 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs369568765 rs369568765 1 1538 10 1/0 0,219,241 +rs372978402 8 22428467 C T - SORBS3 30907 Sorbin and SH3 domain containing 3 NM_005775.4 1 3123 2016 NP_005766.3 O60504 substitution synonymous exon GRCh37 22428467 22428467 Chr8(GRCh37):g.22428467C>T 1476 1476 NM_005775.4:c.1476C>T p.Tyr492= p.Tyr492Tyr 18 610795 45 3' 89.661 X.26 0.986191 XII.28 89.661 X.26 0.986191 XII.85 0 Src homology-3 domain Variant SH3 rs372978402 yes no Frequency 1 C 0.000000 0 0.000150 0.000000 0.000029 0.000000 0.000848 0.000033 0.000178 0.000000 0.000156 0.000848 41 0 1 0 16 1 22 0 1 273822 23964 34284 10040 18858 30644 123936 25690 6406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 0 1 0 16 1 22 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 87 transition C T C>T 0.976 -0.117 Y Tyr TAC 0.562 Y Tyr TAT 0.438 492 255 PASS . . . . . . . . . . . . . . . . 0.39175257 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 194.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.3510 . . . . . . . . 1.815e-04 . . . 0 0.0001 0 0.0007 0 0.0002 0 6.575e-05 0 0.0002 0 0.0009 0 0.0002 0 6.615e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.27 182 ENSG00000120896 SORBS3 SORBS3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372978402 . . . . . . . . . . . . IX.33 0.0 ENST00000517962 V.39 -0.757 . . . . . . 0.000077 . . . . . 0 0.0002 2.99e-05 0 0.0008 0 0.0002 0.0002 3.263e-05 0 6.481e-05 0 0 0.0012 0 0 0 . . . . -0.062 -0.062000 . . . . . 1.0E-255 . . . . . . . . . -0.062 . 0.0001 . . rs372978402 rs372978402 1 1538 10 1/0 0,226,255 +rs17060939 8 22472051 G A - CCAR2 23360 Cell cycle and apoptosis regulator 2 NM_021174.5 1 3992 2772 NP_066997.3 Q8N163 substitution intron GRCh37 22472051 22472051 Chr8(GRCh37):g.22472051G>A 1041+35 1041+35 NM_021174.5:c.1041+35G>A p.? p.? 10 10 607359 35 5' 94.3644 X.71 0.99854 9.81525 94.3644 X.71 0.99854 IX.76 0 Cryptic Donor Strongly Activated 22472052 6.85734 0.673084 73.6277 9.42864 0.6486 82.5885 rs17060939 yes no Frequency/HapMap/1000G 3 T 0.000000 0 0.005990 0.000000 0.014300 0.000000 0.011900 0.005800 0.008360 0.000796 0.002421 0.019996 0.000213 0.009135 0.005996 0.036613 0.010592 0.036613 2288 19 83 202 4 280 753 879 68 273690 23860 34290 10102 18770 30652 125588 24008 6420 0.000175 0.000000 0.000000 0.000594 0.000000 0.000065 0.000080 0.001250 0.000000 24 0 0 3 0 1 5 15 0 2138 11 78 190 4 262 724 805 64 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.924 255 PASS . . . . . . 0.006 0.0058 . 0.012 0.014 . . . . . 0.63247865 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . -0.2501 . . . . . . . . 8.114e-03 . . . 0.0010 0.0075 0.0028 0 0.0398 0.0073 0.0101 0.0101 0.0009 0.0084 0.0028 0 0.0362 0.0082 0.0103 0.0101 . . . . . . ncRNA_exonic intronic intronic . . . 0.1376 . . . 0.28 0.15 182 ENSG00000253200 KIAA1967 CCAR2 . . . . . . 563 0.00866474 64976 532 0.00886874 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17060939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0083 0.0025 0.0203 0.0002 0.0359 0.0059 0.0090 0.0091 0.0009 0.0087 0.0012 0.0099 0 0.0407 0.0065 0.0193 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs17060939 rs17060939 1 1538 10 1/0 0,255,255 +rs3830254 8 22472256 G T - CCAR2 23360 Cell cycle and apoptosis regulator 2 NM_021174.5 1 3992 2772 NP_066997.3 Q8N163 substitution intron GRCh37 22472256 22472256 Chr8(GRCh37):g.22472256G>T 1042-95 1042-95 NM_021174.5:c.1042-95G>T p.? p.? 11 10 607359 -95 3' 87.7176 X.29 0.973754 8.84635 87.7176 X.29 0.973754 8.84635 0 rs3830254 yes no Frequency/1000G 2 T 0.000000 0 0.002774 0.020059 0.001439 0.000751 0.000376 0.002742 0.001910 0.000985 0.000838 0.020059 261 122 23 3 3 24 74 10 2 94080 6082 15978 3994 7988 8754 38748 10148 2388 0.000021 0.000329 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 259 120 23 3 3 24 74 10 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3668639 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . 0.0940 . . . . . . . . 6.570e-03 . . . 0.0459 0.0081 0.0058 0.0013 0.0055 0.0072 0 0.0023 0.0485 0.0083 0.0062 0 0.0037 0.0089 0 0.0023 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.25 0.17 182 ENSG00000253200 KIAA1967 CCAR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3830254 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0216 0.0025 0.0015 0.0008 0.0004 0.0012 0.0021 0.0010 0.0027 0.0183 0.0045 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs3830254 rs3830254 1 1538 10 1/0 0,227,255 +rs113423385 8 22472281 A T - CCAR2 23360 Cell cycle and apoptosis regulator 2 NM_021174.5 1 3992 2772 NP_066997.3 Q8N163 substitution intron GRCh37 22472281 22472281 Chr8(GRCh37):g.22472281A>T 1042-70 1042-70 NM_021174.5:c.1042-70A>T p.? p.? 11 10 607359 -70 3' 87.7176 X.29 0.973754 8.84635 87.7176 X.29 0.973754 9.09406 0 Cryptic Acceptor Strongly Activated 22472296 3.13467 0.110575 81.0738 7.21795 0.298242 81.0738 rs113423385 yes no Frequency 1 A 0.000000 0 0.000124 0.001158 0.000000 0.000000 0.000088 0.000043 0.000126 0.000053 0.000000 0.001158 22 9 0 0 1 1 10 1 0 177412 7772 23872 8306 11428 23456 79576 19044 3958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 9 0 0 1 1 10 1 0 0 0 0 0 0 0 0 0 0 RF 92 Exomes transversion A T A>T 0.000 -0.037 224 PASS . . . . . . . . . . . . . . . . 0.22346368 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . 0.1269 . . . . . . . . 6.429e-04 . . . 0.0023 0.0007 0 0 0 0.0011 0 9.174e-05 0.0028 0.0007 0 0 0.0004 0.0009 0 9.213e-05 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.15 0.1 182 ENSG00000253200 KIAA1967 CCAR2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113423385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0001 0 0 8.75e-05 5.251e-05 0.0001 0 4.263e-05 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs113423385 rs113423385 1 1538 10 1/0 0,212,255 +. 8 22479008 T G - BIN3 1054 Bridging integrator 3 NM_018688.4 -1 1863 762 NP_061158.1 Q9NQY0 substitution missense exon GRCh37 22479008 22479008 Chr8(GRCh37):g.22479008T>G 689 689 NM_018688.4:c.689A>C p.Asp230Ala p.Asp230Ala 9 606396 74 3' 81.8464 10.904 0.939631 9.33619 81.8464 10.904 0.939631 9.512 0 BAR domain transversion A C A>C 0.882 3.030 D Asp GAT 0.461 A Ala GCT 0.263 230 11 10 Baker's yeast -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 159.94 27.V Deleterious 0.02 III.40 bad 5.541E-5 0.00059 255 PASS . . . . . . . . . . . . . BIN3:NM_018688:exon9:c.A689C:p.D230A . . 0.43076923 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.566 . @ . . . . . 1 0.379 . . 130.0 . . . . . . . . . . 0.0921 0.084 0.092 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.505 @ . . . . . . ENSG00000147439 BIN3 BIN3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.420 . . . . D 0.676 0.059 . . 37 . 0.539 . . 0.493 . . . 0.640 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.534 . . 0 0 0 0 0 0 . 0.609 . . 0.577 . . . . . . 2 0.172 . . . . . 0.414 . 0.673 . HET 0.16 . . . . . . . . . . . . . 10.0917 . . V.48 IV.31 . 0.250000 . . . . . . 0.721 . . IV.31 . . . . . . . . . . . . . . . . . . . 0.522 . 0.898 0.898000 . . 0.250000 . . 1.0E-255 1.000 0.715 . 0.273 0.835 . 0.841 . 0.807 0.898 0.991 . . . . . 1 1538 10 1/0 0,242,255 +. 8 22479008 T G - CCAR2 23360 Cell cycle and apoptosis regulator 2 NM_021174.5 1 3992 2772 NP_066997.3 Q8N163 substitution downstream GRCh37 22479008 22479008 Chr8(GRCh37):g.22479008T>G *1813 *1813 NM_021174.5:c.*1813T>G p.? p.? 21 607359 1858 3' 86.923 8.26002 0.805695 IV.42 86.923 8.26002 0.805695 IV.42 0 New Acceptor Site 22479009 5.94947 0.098167 74.2781 transversion T G T>G 0.882 3.030 255 PASS . . . . . . . . . . . . . BIN3:NM_018688:exon9:c.A689C:p.D230A . . 0.43076923 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.566 . @ . . . . . 1 0.379 . . 130.0 . . . . . . . . . . 0.0921 0.084 0.092 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.505 . . exonic exonic exonic . . 0.505 @ . . . . . . ENSG00000147439 BIN3 BIN3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.420 . . . . D 0.676 0.059 . . 37 . 0.539 . . 0.493 . . . 0.640 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.534 . . 0 0 0 0 0 0 . 0.609 . . 0.577 . . . . . . 2 0.172 . . . . . 0.414 . 0.673 . HET 0.16 . . . . . . . . . . . . . 10.0917 . . V.48 IV.31 . 0.250000 . . . . . . 0.721 . . IV.31 . . . . . . . . . . . . . . . . . . . 0.522 . 0.898 0.898000 . . 0.250000 . . 1.0E-255 1.000 0.715 . 0.273 0.835 . 0.841 . 0.807 0.898 0.991 . . . . . 1 1538 10 1/0 0,242,255 +rs144452398 8 23225606 C T - LOXL2 6666 Lysyl oxidase-like 2 NM_002318.2 -1 3810 2325 NP_002309.1 Q9Y4K0 substitution missense exon GRCh37 23225606 23225606 Chr8(GRCh37):g.23225606C>T 259 259 NM_002318.2:c.259G>A p.Asp87Asn p.Asp87Asn 2 606663 -97 5' 81.7632 8.138 0.872981 8.43406 81.7632 8.138 0.872981 8.43406 0 Speract/scavenger receptor Speract/scavenger receptor-related rs144452398 yes no Frequency 1 C 0.000000 0 0.000141 0.000042 0.000029 0.001873 0.000000 0.000000 0.000127 0.000000 0.000310 0.001873 39 1 1 19 0 0 16 0 2 276762 24002 34418 10144 18858 30776 126338 25766 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 1 1 19 0 0 16 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 81 COSM5874404 Large intestine 0.007576 132 transition G A G>A 1.000 5.936 D Asp GAC 0.539 N Asn AAC 0.536 87 15 13 Frog 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 226.57 0.00 Tolerated 0.06 III.82 good 5.724E-1 0.0002869 255 PASS . . . . . . . . . . . . LOXL2:uc003xdh.1:exon2:c.G259A:p.D87N LOXL2:NM_002318:exon2:c.G259A:p.D87N . . 0.43382353 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.828 . @ . . . . . 1 0.969 . . 136.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.3778 0.463 0.378 c . . . . . 1.579e-04 . . . 0 0.0002 0 0 0 0.0004 0.0028 0 0 0.0001 0 0 0 0.0003 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.600 . . exonic exonic exonic . . 0.864 @ . . . 0.18 0.34 182 ENSG00000134013 LOXL2 LOXL2 . . . 1.000 0.747 . 6 9.23418e-05 64976 6 0.000100023 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.514 0.029 . . 37 . 0.518 . . 0.447 . . . 0.162 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.747 . . 0 0 0 0 0 0 . 0.455 . . 0.431 . . . . . . 1 0.371 . . . . . 0.913 . 0.230 . HET 0.1 rs144452398 . . . . . . . . . . . . 18.6257 0.0 . V.64 V.64 . 0.330000 Q9Y4K0 . . . 0.000231 . 0.635 . . V.64 6.546e-05 0.0002 2.978e-05 0.0019 0 0 0.0001 0.0004 0 0 6.46e-05 0 0 0 0 0.0001 0 . . 0.730 . 2.816 2.816000 . . 0.330000 . . 1.0E-255 1.000 0.715 . 0.523 0.996 . 0.854 . 0.490 2.816 0.824 0.0003 . . rs144452398 rs144452398 1 1538 10 1/0 0,242,255 +rs3030791 8 25268511 G A - DOCK5 23476 Dedicator of cytokinesis 5 NM_024940.7 1 10217 5613 NP_079216.4 Q9H7D0 substitution intron GRCh37 25268511 25268511 Chr8(GRCh37):g.25268511G>A 5509-199 5509-199 NM_024940.7:c.5509-199G>A p.? p.? 52 51 616904 -199 3' 87.6398 VIII.06 0.916855 12.343 87.6398 VIII.06 0.916855 12.343 0 rs3030791 yes no Frequency/1000G 2 0.000000 0 0.281949 0.237500 0.284300 0.320400 0.312100 0.263700 0.001445 0.000829 0.001466 0.004032 0.001418 0.000000 0.001813 0.000966 0.002538 0.004032 37 6 1 1 2 0 22 3 2 25606 7242 682 248 1410 0 12132 3104 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 6 1 1 2 0 22 3 2 0 0 0 0 0 0 0 0 0 RF 34 Genomes transition G A G>A 0.024 -0.037 255 PASS . . . . . 0.24 0.28 0.26 0.32 0.31 0.28 . . . . . 0.71428573 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . INTRON(MODIFIER||||DOCK5|mRNA|CODING|NM_024940|) . . . . . . . -0.3950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2819 . . . 0.39 0.16 182 ENSG00000147459 . DOCK5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3030791 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0014 0.0015 0.0040 0.0014 0.0010 0.0018 0.0025 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs3030791 rs3030791 1 1538 10 1/0 0,255,255 +rs150201545 8 27378517 C T - EPHX2 3402 Epoxide hydrolase 2, cytoplasmic NM_001979.5 1 2275 1668 NP_001970.2 P34913 substitution intron GRCh37 27378517 27378517 Chr8(GRCh37):g.27378517C>T 972+91 972+91 NM_001979.5:c.972+91C>T p.? p.? 10 10 132811 91 5' 91.4889 X.58 0.997374 2.51901 91.4889 X.58 0.997374 2.51901 0 Cryptic Donor Strongly Activated 27378511 2.12739 0.208314 63.8675 2.98609 0.376201 69.6461 rs150201545 yes no Frequency/1000G 2 C 0.000000 0 0.004593 0.015900 0.000000 0.000000 0.000000 0.002900 0.005198 0.016258 0.002387 0.003311 0.000000 0.000000 0.000933 0.000000 0.002037 0.016258 161 142 2 1 0 0 14 0 2 30972 8734 838 302 1622 0 15000 3494 982 0.006211 0.007042 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 159 140 2 1 0 0 14 0 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 -1.328 255 PASS 0.01 0.0037 0.01 . . 0.016 0.0046 0.0029 . . . . . . . . 0.42857143 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.4540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0046 . . . 0.22 0.16 182 ENSG00000120915 EPHX2 EPHX2 . . . . . . 51 0.000784905 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150201545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0163 0.0052 0.0024 0.0033 0 0 0.0009 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150201545 rs150201545 1 1538 10 1/0 0,255,255 +rs138057183 8 35631918 G T - UNC5D 18634 Unc-5 netrin receptor D NM_080872.3 1 9177 2862 NP_543148.2 Q6UXZ4 substitution synonymous exon GRCh37 35631918 35631918 Chr8(GRCh37):g.35631918G>T 2580 2580 NM_080872.3:c.2580G>T p.Arg860= p.Arg860Arg 16 616466 -78 5' 87.6072 8.55395 0.965964 3.29116 87.6072 8.55395 0.965964 2.99893 0 Death domain Death-like domain rs138057183 yes no Frequency 1 G 0.000000 0 0.000206 0.000000 0.000087 0.000000 0.000000 0.000000 0.000403 0.000000 0.000464 0.000403 57 0 3 0 0 0 51 0 3 276868 24028 34402 10136 18820 30782 126454 25784 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 0 3 0 0 0 51 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 127 COSM3983750 Oesophagus 0.000712 1405 transversion G T G>T 1.000 1.981 R Arg CGG 0.207 R Arg CGT 0.082 860 255 PASS . . . . . . . . . . . . . UNC5D:NM_080872:exon16:c.G2580T:p.R860R . . 0.45833334 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgG/cgT|R860|UNC5D|mRNA|CODING|NM_080872|NM_080872.ex.16) . 0.0002 0.0002 . 0.0002 0.0002 . I.54 . . . . . . . . 1.815e-04 . . . 0 6.621e-05 0 0 0 0.0001 0.0014 0 0 0.0002 0 0 0 0.0004 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.65 0.44 182 ENSG00000156687 UNC5D UNC5D . . . . . . 5 7.69515e-05 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138057183 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831285 0.000154 . . . . 4.XI 0 0.0002 8.938e-05 0 0 0 0.0003 0.0005 0 0 0.0004 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs138057183 rs138057183 1 1538 10 1/0 0,255,255 +rs545067286 8 38614885 G A - TACC1 11522 Transforming acidic coiled-coil containing protein 1 NM_001352778.1 1 8036 2466 NP_001339707.1 substitution intron GRCh37 38614885 38614885 Chr8(GRCh37):g.38614885G>A 22+14916 22+14916 NM_001352778.1:c.22+14916G>A p.? p.? 2 2 605301 14916 5' 87.3006 8.82915 0.987239 3.66986 87.3006 8.82915 0.987239 3.66986 0 rs545067286 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000572 0.000544 0.000177 0.000139 0.000000 0.000000 0.001235 0.000000 0.000251 0.001235 77 6 4 1 0 0 65 0 1 134608 11030 22550 7178 8306 20650 52632 8278 3984 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 6 4 1 0 0 65 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.031 -1.005 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.5 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.268 . @ . . . . . 2 0.395 . . 32.0 . . INTRON(MODIFIER||||TACC1|mRNA|CODING|NM_001146216|) . . . . . . . -1.0275 -1.076 -1.027 c . . . . . 1.286e-04 . . . 0 0.0003 0 0 . 0.0011 0 0 0 0.0003 0 0 . 0.0011 0 0 nonsynonymous_SNV nonsynonymous_SNV . 0.100 . . exonic exonic intronic . . 0.030 0.0002 . . . . . . ENSG00000147526 TACC1 TACC1 . . . 1.000 0.747 . 46 0.000707954 64976 45 0.000750175 59986 . . 0 . . . . . . T 0.382 0.017 . . 37 . 0.314 . . 0.238 . . . . 0.248 . . . . . . . . . . . . . . . 0.098 . . . . . . 0 . . 0.119 . . 0.040 . . . . . . 0 0.912 . . . . . 0.025 . 0.078 . HET 0 rs545067286 . . . . . . . . . . . . I.58 0.0 . IV.49 -4.77 . 0.050000 . . . Name\x3dnsv831296 . . 0.129 . . . 0.0004 0.0005 0.0002 0.0001 0 0 0.0013 0.0003 0 0.0006 0.0007 0 0 0 0 0.0011 0 . . 0.969 . -0.888 -0.888000 . . 0.050000 . . 1.0E-255 0.216 0.243 . 0.213 0.022 . 0.085 . 0.019 -0.888 -0.726 . . . . . 1 1538 10 1/0 0,255,255 +rs773317488 8 39467008 A G - ADAM18 196 ADAM metallopeptidase domain 18 NM_014237.2 1 2399 2220 NP_055052.1 Q9Y3Q7 substitution missense exon GRCh37 39467008 39467008 Chr8(GRCh37):g.39467008A>G 272 272 NM_014237.2:c.272A>G p.His91Arg p.His91Arg 5 5 3' 85.2897 X.78 0.979225 5.57541 85.2897 X.78 0.976016 5.81324 -0.00109236 Cryptic Acceptor Strongly Activated 39467023 0.989035 0.000107 71.9706 1.67638 0.000186 71.9706 Peptidase M12B, propeptide rs773317488 yes no Frequency 1 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 245432 15292 33498 9840 17234 30762 111152 22196 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transition A G A>G 0.142 0.125 H His CAT 0.413 R Arg CGT 0.082 91 12 11 Fruitfly 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 68.35 28.37 Deleterious 0.02 II.94 good 3.493E-2 0.131 248 PASS . . . . . . . . . . . . . . . . 0.3018868 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.354 . @ . . . . . 1 0.203 . . 53.0 . . . . . . . . . . -0.3672 -0.553 -0.367 c . . . . . 7.893e-06 . . . 0 1.116e-05 0 0 0 0 0 6.098e-05 0 9.514e-06 0 0 0 0 0 6.132e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.075 . . exonic exonic exonic . . 0.184 @ . . . . . . ENSG00000168619 ADAM18 ADAM18 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.112 . . . . T 0.069 0.003 . . 37 . 0.217 . . 0.086 . . . 0.843 0.189 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.856 . . 0 0 0 0 0 0 . 0.588 . . 0.619 . . . . . . 0 0.546 . . . . . 0.180 . 0.381 . HET 0.03 rs773317488 . . . . . . . . . . . . V.45 . . IV.89 0.905 . 0.060000 . . . . . . 0.189 . . . 0 4.074e-06 0 0 0 0 0 0 3.251e-05 . . . . . . . . . . 0.133 . 0.058 0.058000 . . 0.060000 . . 1.0E-248 0.188 0.239 . 0.173 0.494 . 0.247 . 0.254 0.058 0.042 . . . . . 1 1538 10 1/0 0,255,255 +rs200019819 8 41547980 G A - ANK1 492 Ankyrin 1 NM_001142446.1 -1 8478 5694 NP_001135918.1 substitution intron GRCh37 41547980 41547980 Chr8(GRCh37):g.41547980G>A 4107+12 4107+12 NM_001142446.1:c.4107+12C>T p.? p.? 33 33 612641 12 5' 66.8309 5.74298 0.21364 4.97805 66.8309 5.74298 0.21364 4.82559 0 rs200019819 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000144 0.000042 0.000000 0.000000 0.000000 0.000227 0.000245 0.000000 0.000155 0.000245 40 1 0 0 0 7 31 0 1 277168 24024 34414 10152 18862 30782 126690 25778 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 1 0 0 0 7 31 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 50 RCV000274712.1 germline clinical testing VUS 1 Spherocytosis, Dominant transition C T C>T 0.000 -0.440 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.45652175 . . germline 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000274712.1 . MedGen CN239455 2 . . . 138.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.0449 . . . . . . . . 1.342e-04 . . . 0 0.0001 0 0 0 0.0002 0 0.0002 0 0.0001 0 0 0 0.0002 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.16 0.22 182 ENSG00000029534 . ANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200019819 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831299 0.000077 . . . . . 0 0.0002 0 0 0 0 0.0003 0.0002 0.0002 0.0001 9.687e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs200019819 rs200019819 1 1538 10 1/0 0,243,255 +rs34040483 8 42977591 G C - POMK 26267 Protein-O-mannose kinase NM_001277971.1 1 1527 1053 NP_001264900.1 Q9H5K3 substitution synonymous exon GRCh37 42977591 42977591 Chr8(GRCh37):g.42977591G>C 624 624 NM_001277971.1:c.624G>C p.Leu208= p.Leu208Leu 4 615247 342 3' 89.4547 9.67904 0.961012 9.0102 89.4547 9.67904 0.961012 9.0102 0 Protein kinase domain Protein kinase-like domain rs34040483 yes no Frequency/1000G 2 G benign 0.000000 0 0.004593 0.000800 0.000000 0.000000 0.012900 0.013000 0.006972 0.002332 0.003315 0.000296 0.000106 0.001560 0.012054 0.005239 0.007740 0.012054 1927 56 114 3 2 48 1519 135 50 276410 24010 34388 10126 18864 30778 126018 25766 6460 0.000087 0.000000 0.000116 0.000000 0.000000 0.000130 0.000111 0.000078 0.000000 12 0 2 0 0 2 7 1 0 1903 56 110 3 2 44 1505 133 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8490 4398 12888 110 8 118 0.0127907 0.00181571 0.00907274 0.0127907 0.00181571 0.00907274 57 RCV000245749.2 germline|germline clinical testing|clinical testing Benign 2 not specified transversion G C G>C 1.000 1.981 L Leu CTG 0.404 L Leu CTC 0.197 208 255 PASS . 0.01 0.01 . 0.01 0.0008 0.0046 0.013 . 0.013 . ENSG00000185900:ENST00000331373:exon5:c.G624C:p.L208L . . . . 0.48809522 . . germline 82 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Benign Benign RCV000245749.1 not_specified MedGen CN169374 2 . . . 168.0 . . . 0.0018 0.0091 0.013 0.0018 0.0091 0.013 . 1.1027 . . . . . . . . 6.953e-03 . . . 0.0021 0.0057 0.0030 0 0.0063 0.0097 0.0014 0.0018 0.0022 0.0067 0.0030 0 0.0056 0.0108 0 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.55 0.25 182 ENSG00000185900 SGK196 POMK . . . . . . 648 0.00997291 64976 626 0.0104358 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34040483 . . . . . . . . . . . . . . . . . . . . . . . 0.009073 . . . . III.26 0.0022 0.0068 0.0032 0.0003 5.8e-05 0.0053 0.0118 0.0078 0.0016 0.0025 0.0085 0.0095 0 0.0006 0.0046 0.0139 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.013 rs34040483 rs34040483 rs34040483 rs34040483 1 1538 10 1/0 0,238,255 +rs375078028 8 53573603 C A - RB1CC1 15574 RB1-inducible coiled-coil 1 NM_014781.4 -1 6667 4785 NP_055596.3 Q8TDY2 substitution intron GRCh37 53573603 53573603 Chr8(GRCh37):g.53573603C>A 1546-36 1546-36 NM_014781.4:c.1546-36G>T p.? p.? 11 10 606837 -36 3' 82.1161 6.58673 0.845643 0 82.1161 6.58673 0.845643 0 0 rs375078028 yes no Frequency 1 C 0.000000 0 0.000186 0.000459 0.000000 0.001003 0.000000 0.000000 0.000239 0.000000 0.000000 0.001003 51 11 0 10 0 0 30 0 0 274350 23950 33760 9966 18702 30342 125526 25702 6402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 11 0 10 0 0 30 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.58064514 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.1200 . . . . . . . . 1.500e-04 . . . 0.0005 0.0002 0 0 0 0.0002 0 0 0.0003 8.52e-05 0 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000023287 RB1CC1 RB1CC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375078028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0 0.0010 0 0 0.0002 0 0 0.0007 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375078028 rs375078028 1 1538 10 1/0 0,255,255 +rs778620731 8 53573604 A T - RB1CC1 15574 RB1-inducible coiled-coil 1 NM_014781.4 -1 6667 4785 NP_055596.3 Q8TDY2 substitution intron GRCh37 53573604 53573604 Chr8(GRCh37):g.53573604A>T 1546-37 1546-37 NM_014781.4:c.1546-37T>A p.? p.? 11 10 606837 -37 3' 82.1161 6.58673 0.845643 0 82.1161 6.58673 0.845643 0 0 Cryptic Donor Strongly Activated 53573604 4.35966 0.107393 65.1959 4.82261 0.159319 65.6749 rs778620731 yes no Frequency 1 A 0.000000 0 0.000150 0.000042 0.000000 0.001004 0.000000 0.000000 0.000239 0.000000 0.000000 0.001004 41 1 0 10 0 0 30 0 0 274158 23924 33726 9962 18696 30300 125446 25706 6398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 1 0 10 0 0 30 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 1.416 255 PASS . . . . . . . . . . . . . . . . 0.58064514 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.4935 . . . . . . . . 1.105e-04 . . . 0 9.982e-05 0 0 0 0.0002 0 0 0 5.679e-05 0 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000023287 RB1CC1 RB1CC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs778620731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.53 0 0.0002 0 0.0010 0 0 0.0002 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs115290812 8 59535860 T A - NSMAF 8017 Neutral sphingomyelinase (N-SMase) activation associated factor NM_001144772.1 -1 3510 2847 NP_001138244.1 substitution intron GRCh37 59535860 59535860 Chr8(GRCh37):g.59535860T>A 598-29 598-29 NM_001144772.1:c.598-29A>T p.? p.? 9 8 603043 -29 3' 84.3464 6.80829 0.976683 5.22404 84.3464 6.80829 0.976683 5.21413 0 rs115290812 yes no Frequency 1 C 0.000000 0 transversion A T A>T 0.000 -2.539 255 PASS . . . . . . . . . . . . . . . . 0.8181818 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.3988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.15 182 ENSG00000035681 NSMAF NSMAF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs115290812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs115290812 rs115290812 1 1538 10 1/0 0,255,255 +rs116544617 8 59535861 T A - NSMAF 8017 Neutral sphingomyelinase (N-SMase) activation associated factor NM_001144772.1 -1 3510 2847 NP_001138244.1 substitution intron GRCh37 59535861 59535861 Chr8(GRCh37):g.59535861T>A 598-30 598-30 NM_001144772.1:c.598-30A>T p.? p.? 9 8 603043 -30 3' 84.3464 6.80829 0.976683 5.22404 84.3464 6.80829 0.976683 5.42439 0 59535861 -65.6684 rs116544617 yes no Frequency/1000G 2 A 0.000000 0 0.275958 0.261000 0.265800 0.292700 0.339000 0.203200 0.000008 0.000000 0.000000 0.000000 0.000000 0.000033 0.000009 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 242808 14996 33148 9698 17062 30190 110112 22206 5396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes transversion A T A>T 0.000 -0.117 255 PASS . . . . . 0.26 0.28 0.2 0.29 0.34 0.27 . . . . . 0.8333333 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . 0.1542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2899 . . . 0.45 0.06 182 ENSG00000035681 NSMAF NSMAF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs116544617 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.237e-06 0 0 0 0 9.082e-06 0 3.312e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs116544617 rs116544617 1 1538 10 1/0 0,255,255 +rs144534227 8 59571986 C T - NSMAF 8017 Neutral sphingomyelinase (N-SMase) activation associated factor NM_001144772.1 -1 3510 2847 NP_001138244.1 substitution upstream GRCh37 59571986 59571986 Chr8(GRCh37):g.59571986C>T -81 -81 NM_001144772.1:c.-81G>A p.? p.? 1 603043 -233 5' 86.3702 9.25272 0.973567 XI.72 86.3702 9.25272 0.973567 XI.72 0 rs144534227 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.003377 0.000560 0.003002 0.004853 0.000000 0.000392 0.005794 0.001943 0.004341 0.005794 423 6 62 30 0 7 282 20 16 125266 10708 20652 6182 7196 17872 48674 10296 3686 0.000048 0.000000 0.000000 0.000000 0.000000 0.000112 0.000000 0.000000 0.001085 3 0 0 0 0 1 0 0 2 417 6 62 30 0 5 282 20 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.448 255 PASS . 0.0005 . . 0.0013 . 0.0006 . . 0.003 . . AX747379:uc003xtv.1:exon1:c.C121T:p.P41S . . . 0.41025642 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . 0.8908 . . . . . . . . 9.795e-04 . . . 0 0.0030 0 0 0 0.0103 0 0.0007 0 0.0027 0 0 0 0.0104 0 0.0007 . nonsynonymous_SNV . . . . UTR5 exonic intronic . . . 0.0006 . . . 0.4 0.42 182 ENSG00000035681 AX747379 NSMAF ENST00000427130:c.-81G>A . . . . . 354 0.00544817 64976 351 0.00585137 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144534227 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0037 0.0031 0.0048 0 0.0023 0.0066 0.0041 0.0004 0.0007 0.0025 0 0.0067 0 0.0011 0.0041 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs144534227 rs144534227 1 1538 10 1/0 0,255,255 +rs140953320 8 62491400 G C - ASPH 757 Aspartate beta-hydroxylase NM_004318.3 -1 5349 2277 NP_004309.2 Q12797 substitution intron GRCh37 62491400 62491400 Chr8(GRCh37):g.62491400G>C 1063-1983 1063-1983 NM_004318.3:c.1063-1983C>G p.? p.? 16 15 600582 -1983 3' 92.3874 9.24101 0.938153 8.77116 92.3874 9.24101 0.938153 8.77116 0 rs140953320 yes no Frequency/1000G 2 G 0.000000 0 0.004193 0.000800 0.000000 0.000000 0.013900 0.008600 0.009653 0.002404 0.004773 0.003311 0.000617 0.000000 0.014863 0.010876 0.011202 0.014863 299 21 4 1 1 0 223 38 11 30976 8734 838 302 1622 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 299 21 4 1 1 0 223 38 11 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C G C>G 1.000 2.788 255 PASS 0.002 0.01 0.01 . 0.02 0.0008 0.0042 0.0086 . 0.014 . . . . . . 0.3723404 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . 0.9734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . 0.0042 . . . 0.24 0.19 182 ENSG00000254285 ASPH ASPH . . . . . . 821 0.0126354 64976 801 0.0133531 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140953320 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VIII . . . . . . . . . 0.0024 0.0097 0.0048 0.0033 0.0006 0.0109 0.0149 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs140953320 rs140953320 1 1538 10 1/0 0,253,255 +rs185273349 8 65286051 A T - MIR124-2HG 48723 MIR124-2 host gene NR_109792.1 1 6557 0 substitution exon GRCh37 65286051 65286051 Chr8(GRCh37):g.65286051A>T 167 167 NR_109792.1:n.167A>T 1 -58 5' 75.4161 8.56441 0.840968 7.05647 75.4161 8.56441 0.840968 VI.56 0 Cryptic Acceptor Strongly Activated 65286056 2.59621 0.003508 77.0914 3.94309 0.212822 83.285 rs185273349 yes no Frequency/1000G 2 A 0.000000 0 0.003594 0.000800 0.005100 0.000000 0.008900 0.004300 0.008742 0.002753 0.002945 0.003185 0.000000 0.007933 0.015711 0.006717 0.006957 0.015711 1349 40 72 26 0 178 943 59 31 154308 14528 24448 8164 11468 22438 60022 8784 4456 0.000168 0.000000 0.000000 0.000000 0.000000 0.000357 0.000300 0.000000 0.000000 13 0 0 0 0 4 9 0 0 1323 40 72 26 0 170 925 59 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.000 0.044 255 PASS . 0.01 0.01 . 0.01 0.0008 0.0036 0.0043 . 0.0089 0.0051 . LOC100130155:uc022avc.2:exon1:c.A43T:p.K15X . . . 0.5272727 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 55.0 . . . . . . . . . . -0.8440 . . . . . . . . 6.265e-03 . . . 0 0.0071 0 0 . 0.0059 0.0085 0.0079 0 0.0071 0 0 . 0.0060 0.0085 0.0079 . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0036 . . . 0.6 0.68 182 ENSG00000254377 LOC100130155 MIR124-2HG . . . . . . 708 0.0108963 64976 689 0.011486 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185273349 . . . . . . . 0.005036630036630037 0.0 0.0055248618784530384 0.0 0.011873350923482849 II.39 . ENST00000520799 IV.56 -1.26 . 1.000000 . . . Name\x3dnsv523097 . . . . . . 0.0022 0.0086 0.0029 0.0031 0 0.0070 0.0159 0.0063 0.0079 0.0031 0.0093 0.0036 0.0066 0 0.0063 0.0150 0.0093 . . . . -0.348 -0.348000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.348 . 0.01 . . rs185273349 rs185273349 1 1538 10 1/0 0,255,255 +rs61734026 8 71646201 C T - XKR9 20937 XK, Kell blood group complex subunit-related family, member 9 NM_001011720.1 1 3174 1122 NP_001011720.1 Q5GH70 substitution missense exon GRCh37 71646201 71646201 Chr8(GRCh37):g.71646201C>T 664 664 NM_001011720.1:c.664C>T p.Leu222Phe p.Leu222Phe 5 171 3' 89.4825 X.72 0.986586 9.90398 89.4825 X.72 0.986586 9.90398 0 Transport protein XK rs61734026 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.002000 0.000000 0.014900 0.010100 0.009570 0.002625 0.006043 0.001978 0.000000 0.001857 0.013354 0.021311 0.009334 0.021311 2637 63 207 20 0 56 1683 548 60 275536 23998 34254 10112 18836 30164 126030 25714 6428 0.000138 0.000000 0.000058 0.000000 0.000000 0.000133 0.000175 0.000389 0.000000 19 0 1 0 0 2 11 5 0 2599 63 205 20 0 52 1661 538 60 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8486 4399 12885 110 7 117 0.0127966 0.00158874 0.00899862 0.0127966 0.00158874 0.00899862 188 transition C T C>T 1.000 1.981 L Leu CTT 0.129 F Phe TTT 0.454 222 12 9 Zebrafish 1 0 0 0 0 4.IX 5.II 111 132 22 C0 119.12 0.00 Tolerated 0.44 II.54 good 4.363E-2 0.001632 255 PASS . 0.01 0.01 . 0.01 . 0.0048 0.01 . 0.015 0.002 . . . . . 0.3902439 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.432 . @ . . . . . 1 0.744 . . 41.0 . . . 0.0016 0.009 0.013 0.0016 0.009 0.013 . 0.3179 0.359 0.318 c . . . . . 8.911e-03 . . . 0.0026 0.0073 0.0042 0 0.0221 0.0110 0.0042 0.0018 0.0026 0.0088 0.0041 0 0.0213 0.0127 0.0072 0.0018 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.706 . . exonic exonic exonic . . 0.584 0.0048 . . . 0.23 0.59 182 ENSG00000221947 XKR9 XKR9 . . . 0.006 0.112 . 779 0.011989 64976 756 0.0126029 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.569 . . 0.648 . . . 0.752 0.537 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.366 . . 0 0 0 0 0 0 . 0.428 . . 0.397 . . . . . . 0 0.313 . . . . . 0.408 . 0.196 . HET 0.18 rs61734026 . . . . . . . 0.005494505494505495 0.0 0.008287292817679558 0.0 0.011873350923482849 IX.09 0.002408 . IV.69 IV.69 . 0.090000 Q5GH70 . . Name\x3dnsv890997 0.008999 . 0.447 . . IV.69 0.0021 0.0096 0.0060 0.0019 0 0.0215 0.0136 0.0086 0.0019 0.0036 0.0096 0.0084 0.0033 0 0.0198 0.0117 0.0133 . . 0.246 . 2.597 2.597000 . . 0.090000 . . 1.0E-255 0.999 0.424 . 0.750 0.941 . 0.384 . 0.346 2.597 0.871 0.013 rs61734026 rs61734026 rs61734026 rs61734026 1 1538 10 1/0 0,255,255 +rs115753750 8 81083620 T C - TPD52 12005 Tumor protein D52 NM_001287140.1 -1 4370 744 NP_001274069.1 substitution upstream GRCh37 81083620 81083620 Chr8(GRCh37):g.81083620T>C -90932 -90932 NM_001287140.1:c.-90932A>G p.? p.? 1 604068 -91071 5' 74.6649 4.26878 0.957554 0 74.6649 4.26878 0.957554 0 0 rs115753750 yes no Frequency/1000G 2 0.000000 0 0.000058 0.000406 0.000000 0.000000 0.000000 0.000000 0.000054 0.000000 0.000000 0.000406 14 8 0 0 0 0 6 0 0 241810 19688 33420 9570 17058 29618 111124 15444 5888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 8 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -1.005 255 PASS 0.17 0.13 0.09 0.17 0.08 . . . . . . . . . . . 0.34375 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . 0.7516 . . . . . . . . . . . . 0.0002 4.398e-05 0 0 0 6.425e-05 0 0 0.0002 2.303e-05 0 0 0 2.173e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.38 182 ENSG00000076554 TPD52 TPD52 . . . . . . 2240 0.0344743 64976 2239 0.0373254 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115753750 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 5.181e-05 0 0 0 0 3.101e-05 0 0 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.17 . . rs115753750 rs115753750 1 1538 10 1/0 0,255,255 +rs138450218 (chr8:86555535 C/G) 8 86555535 C G No Alamut gene - other known genes: REXO1L8 REXO1L8 +rs141372017 (chr8:86568720 C/G) 8 86568720 C G Not on a known gene +. (chr8:86726895 C/G) 8 86726895 C G Not on a known gene +. (chr8:86726902 G/C) 8 86726902 G C Not on a known gene +. (chr8:86727535 G/C) 8 86727535 G C Not on a known gene +. (chr8:86748356 G/C) 8 86748356 G C Not on a known gene +. (chr8:86748989 G/C) 8 86748989 G C Not on a known gene +. 8 86757299 C G - REXO1L2P 32239 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene NR_003594.1 -1 1078 0 substitution exon GRCh37 86757299 86757299 Chr8(GRCh37):g.86757299C>G 463 463 NR_003594.1:n.463G>C 1 transversion G C G>C 0.992 2.707 124 PASS . . . . . . . . . . . ENSG00000255940:ENST00000540724:exon1:c.G1447C:p.D483H REXO1L2P:uc022axg.1:exon1:c.G376C:p.D126H . . . 0.16254418 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 566.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D155H|REXO1L2P|Non-coding_transcript|NON_CODING|NR_003594.6|NR_003594.6.ex.1) . . . . . . . -0.8333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000255940 REXO1L2P REXO1L2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.31 . . . . . . . . . . . . . V.97 . ENST00000540724 0.1 0.1 . 0.150000 A0PJM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.170 0.170000 . . 0.150000 . . 1.0E-124 . . . . . . . . . 0.170 . . . . . . 1 1538 10 1/0 0,163,255 +. 8 86757932 C G - REXO1L2P 32239 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene NR_003594.1 -1 1078 0 substitution upstream GRCh37 86757932 86757932 Chr8(GRCh37):g.86757932C>G -171 -171 NR_003594.1:n.-171G>C p.? p.? 1 transversion G C G>C 0.520 -1.167 254 PASS . . . . . . . . . . . ENSG00000255940:ENST00000540724:exon1:c.G814C:p.A272P . . . . 0.3167702 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 322.0 . . UPSTREAM(MODIFIER||||REXO1L2P|Non-coding_transcript|NON_CODING|NR_003594.6|) . . . . . . . -1.6632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic upstream\x3bdownstream upstream . . . @ . . . . . . ENSG00000255940 REXO1L2P\x3bREXO1L1 REXO1L2P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000540724 0.1 0.1 . 1.000000 A0PJM3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.205 -1.205000 . . 1.000000 . . 1.0000000000000001E-254 . . . . . . . . . -1.205 . . . . . . 1 1538 10 1/0 0,194,234 +. 8 86758576 C G - REXO1L2P 32239 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene NR_003594.1 -1 1078 0 substitution upstream GRCh37 86758576 86758576 Chr8(GRCh37):g.86758576C>G -815 -815 NR_003594.1:n.-815G>C p.? p.? 1 transversion G C G>C 0.020 -0.440 174 PASS . . . . . . . . . . . ENSG00000255940:ENST00000540724:exon1:c.G170C:p.R57P . . . . 0.10169491 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 177.0 . . UPSTREAM(MODIFIER||||REXO1L2P|Non-coding_transcript|NON_CODING|NR_003594.6|) . . . . . . . -1.0649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic UTR3 upstream . . . @ . . . . . . ENSG00000255940 REXO1L1 REXO1L2P . uc022axh.1:c.*4979G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000540724 0.381 0.381 . 0.300000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.474 -0.474000 . . 0.300000 . . 1.0E-174 . . . . . . . . . -0.474 . . . . rs2017339 rs2017339 1 1538 10 1/0 0,202,255 +rs879605552 (chr8:86776299 C/G) 8 86776299 C G Not on a known gene +. (chr8:86776306 G/C) 8 86776306 G C Not on a known gene +. (chr8:86776944 C/G) 8 86776944 C G Not on a known gene +rs4248183 (chr8:86787860 C/G) 8 86787860 C G Not on a known gene +rs201763816 (chr8:86788493 C/G) 8 86788493 C G Not on a known gene +rs201965021 (chr8:86788500 G/C) 8 86788500 G C Not on a known gene +. (chr8:86803135 C/G) 8 86803135 C G Not on a known gene +. (chr8:86803768 C/G) 8 86803768 C G Not on a known gene +rs138945544 (chr8:86814788 G/T) 8 86814788 G T Not on a known gene +rs146597561 (chr8:86815328 C/G) 8 86815328 C G Not on a known gene +. (chr8:86815961 C/G) 8 86815961 C G Not on a known gene +rs148770074 (chr8:86815968 G/C) 8 86815968 G C Not on a known gene +rs372196077 (chr8:86816605 C/G) 8 86816605 C G Not on a known gene +rs150763050 (chr8:86827522 C/G) 8 86827522 C G Not on a known gene +rs139589976 (chr8:86828796 C/G) 8 86828796 C G Not on a known gene +. (chr8:86839709 C/G) 8 86839709 C G Not on a known gene +. (chr8:86840342 C/G) 8 86840342 C G Not on a known gene +. (chr8:86840349 G/C) 8 86840349 G C Not on a known gene +rs138635803 8 98943205 C T - MATN2 6908 Matrilin 2 NM_002380.4 1 4172 2871 NP_002371.3 O00339 substitution missense exon GRCh37 98943205 98943205 Chr8(GRCh37):g.98943205C>T 167 167 NM_002380.4:c.167C>T p.Ala56Val p.Ala56Val 3 602108 25 3' 85.6223 9.82175 0.924583 13.5356 85.6223 9.82175 0.924583 13.2834 0 Cryptic Donor Weakly Activated 98943203 57.8911 2.00084 0.239976 63.0285 von Willebrand factor, type A rs138635803 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.000800 0.009200 0.000000 0.007000 0.002900 0.004624 0.000375 0.004255 0.020377 0.000053 0.014525 0.003196 0.000546 0.008887 0.020377 1268 9 146 203 1 439 399 14 57 274226 24010 34314 9962 18826 30224 124838 25638 6414 0.000102 0.000000 0.000058 0.000803 0.000000 0.000596 0.000000 0.000000 0.000000 14 0 1 4 0 9 0 0 0 1240 9 144 195 1 421 399 14 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8320 3953 12273 26 3 29 0.00311526 0.000758342 0.00235734 0.00311526 0.000758342 0.00235734 53 transition C T C>T 0.992 3.757 A Ala GCA 0.226 V Val GTA 0.114 56 12 8 Dog 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 111.95 0.00 Tolerated 0.95 III.38 255 PASS 0.002 0.0023 . . 0.01 0.0008 0.0038 0.0029 . 0.007 0.0092 . . . . . 0.45945945 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.393 . @ . . . . . 1 0.692 . . 111.0 . . . 0.0008 0.0024 0.0031 0.0008 0.0024 0.0031 . 0.1023 0.258 0.102 c . . . . . 4.837e-03 . . . 0.0006 0.0064 0.0047 0 0.0013 0.0062 0.0262 0.0167 0.0007 0.0052 0.0048 0 0.0011 0.0044 0.0252 0.0168 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.779 . . exonic exonic exonic . . 0.600 0.0038 . . . 0.33 0.36 182 ENSG00000132561 MATN2 MATN2 . . . 1.000 0.747 . 170 0.00261635 64976 151 0.00251725 59986 Uncertain_significance . 0 . 0.320 . . . . . . . . . 37 . 0.497 . . 0.574 . . . 0.181 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.008 . . 0 0 0 0 0 0 . 0.414 . . 0.397 . . . . . . 0 0.171 . . . . . 0.153 . 0.234 . HET 0.49 rs138635803 . . . . . . . 0.0022893772893772895 0.0020325203252032522 0.0 0.0 0.005277044854881266 V.65 6.12E-4 . V.64 IV.76 . 0.450000 . . . . 0.002357 . 0.312 . . IV.76 0.0004 0.0050 0.0043 0.0202 0 0.0006 0.0033 0.0096 0.0145 0.0003 0.0019 0.0024 0.0265 0.0006 0.0003 0.0026 0.0051 . . 0.609 . 2.673 2.673000 . . 0.450000 . . 1.0E-255 1.000 0.715 . 0.750 0.999 . 0.565 . 0.391 2.673 0.871 0.01 . . rs138635803 rs138635803 1 1538 10 1/0 0,249,255 +rs374484621 8 99837789 G C - STK3 11406 Serine/threonine kinase 3 NM_001256312.1 -1 3171 1560 NP_001243241.1 substitution intron GRCh37 99837789 99837789 Chr8(GRCh37):g.99837789G>C 111-50742 111-50742 NM_001256312.1:c.111-50742C>G p.? p.? 4 3 605030 -50742 3' 83.9643 V.47 0.543924 4.57849 83.9643 V.47 0.543924 4.57849 0 Cryptic Donor Strongly Activated 99837794 0.678106 0.163289 66.6362 6.47081 0.811445 79.3322 rs374484621 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.002660 0.000853 0.004262 0.002263 0.000000 0.000477 0.004529 0.000228 0.002913 0.004529 316 9 57 15 0 8 214 4 9 118778 10554 13374 6628 3592 16782 47248 17510 3090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 316 9 57 15 0 8 214 4 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6754 2884 9638 16 2 18 0.00236337 0.000693001 0.00186413 0.00236337 0.000693001 0.00186413 10 transversion C G C>G 0.016 -0.279 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.375 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . 0.0007 0.0019 0.0024 0.0007 0.0019 0.0024 . 0.9786 . . . . . . . . 1.176e-03 . . . 0 0.0020 0 0 0 0.0045 0 0.0009 0 0.0015 0 0 0 0.0036 0 0.0009 . . . . . . UTR5 UTR5 UTR5 . . . 0.0004 . . . 0.71 0.35 182 ENSG00000104375 STK3 STK3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374484621 . . . . . . . . . . . . . . . . . . . . . . . 0.001864 . . . . . 0 0.0028 0.0042 0.0024 0 0.0003 0.0049 0.0042 0.0005 0.0010 0.0022 0.0051 0 0 0 0.0036 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0024 . . rs374484621 rs374484621 1 1538 10 1/0 0,255,255 +rs28940272 8 100832259 A G - VPS13B 2183 Vacuolar protein sorting 13 homolog B NM_017890.4 1 14100 12069 NP_060360.3 Q7Z7G8 substitution missense exon GRCh37 100832259 100832259 Chr8(GRCh37):g.100832259A>G 8978 8978 NM_017890.4:c.8978A>G p.Asn2993Ser p.Asn2993Ser 49 607817 -92 5' 71.4931 7.63661 0.841212 0 71.4931 7.63661 0.841212 0 0 New Acceptor Site 100832260 4.82035 0.029509 74.3923 rs28940272 yes no Frequency/1000G 2 A pathogenic 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.002000 0.005800 0.003145 0.000957 0.004099 0.003547 0.000000 0.000520 0.004924 0.000543 0.002788 0.004924 871 23 141 36 0 16 623 14 18 276980 24032 34398 10150 18854 30780 126518 25792 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 869 23 141 36 0 14 623 14 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8552 4401 12953 48 5 53 0.0055814 0.00113482 0.00407504 0.0055814 0.00113482 0.00407504 131 RCV000081920.6|RCV000513475.1|RCV000002955.3 germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|literature only Conflicting interpretations of pathogenicity|Conflicting interpretations of pathogenicity|Pathogenic 1|1|0 not specified|not provided|Cohen syndrome CM041280 Cohen syndrome 15141358 DM COSM3698729|COSM3698729 Lung|Large intestine 0.000418|0.000443 2391|2257 transition A G A>G 1.000 5.209 N Asn AAT 0.464 S Ser AGT 0.149 2993 12 10 Baker's yeast 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Deleterious 0 3.VIII bad 9.447E-4 5.131E-5 255 PASS . 0.0018 0.01 . 0.0026 . 0.0014 0.0058 . 0.002 0.001 . . . . . 0.5555556 . . germline 30 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.502 . Pathogenic//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity Pathogenic|other RCV000002955.3|RCV000081920.5 Cohen_syndrome|not_specified MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0265223:216550:ORPHA193:56604005|CN169374 1 0.948 . . 54.0 . . . 0.0011 0.0041 0.0056 0.0011 0.0041 0.0056 . 0.6955 0.736 0.696 c . . . . . 3.181e-03 . . . 0.0011 0.0033 0.0032 0 0.0008 0.0055 0.0028 0.0007 0.0012 0.0030 0.0033 0 0.0008 0.0047 0.0029 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.807 . . exonic exonic exonic . . 0.983 0.0014 . . . 0.8 0.63 182 ENSG00000132549 VPS13B VPS13B . . . 1.000 0.747 . 321 0.00494029 64976 314 0.00523455 59986 Uncertain_significance . 0 . 0.629 . . . . D 0.660 0.054 . . 37 . 0.801 . . 0.844 . . . 0.281 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 1 0.790 . . 0 0 0 0 1 0 . 0.715 . . 0.807 . . . . . . 0 0.912 . . . . . 0.846 . 0.542 . HET 0 rs28940272 . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dCohen_syndrome\x3bCLNACC\x3dRCV000002955.1 CLINSIG\x3dpathogenic|non-pathogenic\x3bCLNDBN\x3dCohen_syndrome|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000002955.1|RCV000081920.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.\x3bCLNDSDBID\x3dNBK1482:C0265223:216550:ORPHA193:56604005|. CLINSIG\x3dpathogenic|non-pathogenic\x3bCLNDBN\x3dCohen_syndrome|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000002955.1|RCV000081920.3\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1482:C0265223:216550:ORPHA193:56604005|CN169374 CLINSIG\x3dpathogenic|non-pathogenic\x3bCLNDBN\x3dCohen_syndrome|not_specified\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000002955.1|RCV000081920.3\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1482:C0265223:216550:ORPHA193:56604005|CN169374 . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 16.6093 0.00107 . 6.VI 6.VI . 0.000000 . . . Name\x3dessv20276 0.004075 . 0.836 . . 6.VI 0.0008 0.0032 0.0040 0.0037 0 0.0006 0.0051 0.0033 0.0005 0.0013 0.0025 0.0072 0 0 0.0003 0.0039 0 . . 0.428 . 2.324 2.324000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.697 0.999 . 0.776 . 0.960 2.324 1.062 0.01 rs28940272 . rs28940272 . 1 1538 10 1/0 0,255,255 +rs372015313 8 101534778 C T - ANKRD46 27229 Ankyrin repeat domain 46 NM_001270379.1 -1 1730 699 NP_001257308.1 Q86W74 substitution intron GRCh37 101534778 101534778 Chr8(GRCh37):g.101534778C>T 636+56 636+56 NM_001270379.1:c.636+56G>A p.? p.? 5 5 56 5' 78.8946 5.55842 0.75664 2.43221 78.8946 5.55842 0.75664 2.37466 0 Cryptic Acceptor Strongly Activated 101534780 1.57101 0.005296 72.7651 2.62386 0.00594 72.7651 rs372015313 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000387 0.000083 0.000029 0.000000 0.000000 0.000000 0.000753 0.000311 0.000155 0.000753 107 2 1 0 0 0 95 8 1 276480 23998 34346 10126 18854 30726 126242 25740 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 107 2 1 0 0 0 95 8 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 67 transition G A G>A 0.008 1.255 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.39534885 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . 0.6929 . . . . . . . . 4.183e-04 . . . 0 0.0003 9.086e-05 0 0 0.0006 0 0 0 0.0004 9.377e-05 0 0.0002 0.0008 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.66 0.66 182 ENSG00000186106 ANKRD46 ANKRD46 . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372015313 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . . 0 0.0004 2.984e-05 0 0 0.0003 0.0008 0.0002 0 0.0002 0.0004 0 0 0 0.0006 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs372015313 rs372015313 1 1538 10 1/0 0,255,255 +rs62523272 8 103573033 A G - ODF1 8113 Outer dense fiber of sperm tails 1 NM_024410.3 1 994 753 NP_077721.2 Q14990 substitution missense exon GRCh37 103573033 103573033 Chr8(GRCh37):g.103573033A>G 674 674 NM_024410.3:c.674A>G p.Asn225Ser p.Asn225Ser 2 182878 354 3' 89.2754 9.52883 0.916898 X.35 89.2754 9.52883 0.916898 X.35 0 rs62523272 yes no Frequency/1000G 2 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 238090 12910 32806 9604 16786 30148 108684 21792 5360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 117 Exomes COSM1579432|COSM1579432|COSM1579432|COSM1579432|COSM1579432 Thyroid|Skin|Ovary|Large intestine|Haematopoietic and lymphoid tissue 0.001339|0.000812|0.001179|0.000448|0.000567 747|1232|848|2231|3530 transition A G A>G 0.000 -0.521 N Asn AAC 0.536 S Ser AGC 0.243 225 10 5 Cow 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 82.67 0.00 Tolerated 0.56 IV.32 good 8.7E-1 0.06859 200 PASS 0.06 0.1 0.14 0.14 0.08 . . . . . . . ODF1:uc003ykt.2:exon2:c.A674G:p.N225S ODF1:NM_024410:exon2:c.A674G:p.N225S . . 0.10828026 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.007 . . 157.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N225S|ODF1|mRNA|CODING|NM_024410|NM_024410.ex.2) . . . . . . . -1.3000 -1.314 -1.300 c . . . . . . . . . . . . . . . . . 0 3.938e-05 0 0 0 6.709e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.100 @ . . . 0.1 0.3 182 ENSG00000155087 ODF1 ODF1 . . . 0.940 0.274 . . . . . . . Uncertain_significance . 0 . 0.184 . . . . T 0.192 0.007 . . 37 . 0.012 . . 0.052 . . . 0.246 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.140 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.095 . . . . . 0.208 . 0.016 . LowAF 1 rs62523272 . 0.007 . . . . . 0.09935897435897435 0.05894308943089431 0.13535911602209943 0.1381118881118881 0.079155672823219 VI.33 0.062905 . V.44 -0.902 . 1.000000 Q14990 . . Name\x3desv33118 . . 0.004 . . . 0 8.4e-06 0 0 0 0 1.84e-05 0 0 . . . . . . . . . . 0.083 . -0.321 -0.321000 . . 1.000000 . . 1.0E-200 0.007 0.175 . 0.062 0.006 . 0.148 . 0.008 -0.321 -0.889 0.14 rs62523272 rs62523272 rs62523272 rs62523272 1 1538 10 1/0 0,255,255 +rs62523273 8 103573037 G C - ODF1 8113 Outer dense fiber of sperm tails 1 NM_024410.3 1 994 753 NP_077721.2 Q14990 substitution synonymous exon GRCh37 103573037 103573037 Chr8(GRCh37):g.103573037G>C 678 678 NM_024410.3:c.678G>C p.Pro226= p.Pro226Pro 2 182878 358 3' 89.2754 9.52883 0.916898 X.35 89.2754 9.52883 0.916898 X.35 0 Cryptic Acceptor Strongly Activated 103573043 4.72964 0.009153 70.9969 5.98179 0.098108 74.9681 rs62523273 yes no Frequency/1000G 2 C 0.000000 0 0.000048 0.000417 0.000059 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000417 13 9 2 0 0 0 2 0 0 268280 21604 33618 9832 18386 30092 123228 25206 6314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 9 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7902 3579 11481 540 691 1231 0.0639659 0.161827 0.0968376 0.0639659 0.161827 0.0968376 58 COSM3762959|COSM3762959|COSM3762959|COSM3762959|COSM3762959|COSM3762959|COSM3762959 Thyroid|Skin|Prostate|Oesophagus|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.002677|0.000812|0.001134|0.000712|0.001345|0.001157|0.000567 747|1232|1764|1405|2231|1729|3530 transversion G C G>C 0.480 -0.844 P Pro CCG 0.115 P Pro CCC 0.328 226 198 PASS 0.2 0.14 0.15 0.14 0.09 . . . . . . . ODF1:uc003ykt.2:exon2:c.G678C:p.P226P ODF1:NM_024410:exon2:c.G678C:p.P226P . . 0.10714286 . . @ 18 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 168.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccC|P226|ODF1|mRNA|CODING|NM_024410|NM_024410.ex.2) 0.16 0.097 0.064 0.16 0.097 0.064 . 0.6625 . . . . . . . . 7.633e-05 . . . 0.0006 4.614e-05 0 0 0 0 0 0 0.0003 5.854e-05 0 0 0 6.741e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.13 0.29 182 ENSG00000155087 ODF1 ODF1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62523273 0.011 0.014 . . . . . . . . . . . . . . . . . . . . Name\x3desv33118 0.096838 . . . . . 0.0003 3.365e-05 6.1e-05 0 0 0 1.844e-05 0 0 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . 0.2 rs62523273 rs62523273 rs62523273 rs62523273 1 1538 10 1/0 0,248,255 +rs142123946 8 123964912 G A - ZHX2 18513 Zinc fingers and homeoboxes 2 NM_014943.3 1 4359 2514 NP_055758.1 Q9Y6X8 substitution missense exon GRCh37 123964912 123964912 Chr8(GRCh37):g.123964912G>A 1162 1162 NM_014943.3:c.1162G>A p.Val388Ile p.Val388Ile 3 609185 -1357 5' 87.6072 8.55395 0.971725 IX.86 87.6072 8.55395 0.971725 IX.86 0 rs142123946 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008900 0.001400 0.003634 0.000500 0.005404 0.006010 0.000106 0.000715 0.005068 0.001319 0.007423 0.006010 1007 12 186 61 2 22 642 34 48 277142 24014 34418 10150 18860 30780 126668 25786 6466 0.000036 0.000000 0.000058 0.000197 0.000000 0.000130 0.000016 0.000000 0.000000 5 0 1 1 0 2 1 0 0 997 12 184 59 2 18 640 34 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4403 12960 43 3 46 0.005 0.00068089 0.00353683 0.005 0.00068089 0.00353683 64 transition G A G>A 1.000 5.694 V Val GTC 0.240 I Ile ATC 0.481 388 13 9 Frog 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.12 III.35 good 5.199E-1 0.057 255 PASS . 0.0023 . . 0.01 . 0.002 0.0014 . 0.0089 . ENSG00000178764:ENST00000314393:exon3:c.G1162A:p.V388I . ZHX2:NM_014943:exon3:c.G1162A:p.V388I . . 0.48387095 . . @ 75 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.536 . @ . . . . . 1 0.745 . . 155.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V388I|ZHX2|mRNA|CODING|NM_014943|NM_014943.ex.3) 0.0007 0.0035 0.005 0.0007 0.0035 0.005 . 0.6311 0.676 0.631 c . . . . . 4.136e-03 . . . 0.0007 0.0034 0.0082 0.0002 0.0018 0.0044 0.0056 0.0005 0.0008 0.0044 0.0083 0.0001 0.0020 0.0062 0.0043 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.893 0.0020 . . . 0.33 0.35 182 ENSG00000178764 ZHX2 ZHX2 . . . 1.000 0.747 . 322 0.00495568 64976 312 0.00520121 59986 Benign . 0 . 0.443 . . . . T 0.295 0.012 . . 37 . 0.288 . . 0.006 . . . 0.430 0.499 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.764 . . 0.608 . . . . . . 0 0.132 . . . . . 0.971 . 0.383 . HET 0.4 rs142123946 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 19.9161 5.35E-4 ENST00000314393 V.72 V.72 . 0.390000 Q9Y6X8 . . . 0.003537 . 0.932 . . V.72 0.0005 0.0038 0.0054 0.0062 0.0001 0.0015 0.0053 0.0082 0.0007 0.0005 0.0022 0.0048 0 0 0.0003 0.0037 0.0031 . . 0.609 . 2.718 2.718000 . . 0.390000 . . 1.0E-255 1.000 0.715 . 0.888 0.991 . 0.837 . 0.430 2.718 0.917 0.01 . . rs142123946 rs142123946 1 1538 10 1/0 0,243,255 +rs780904968 8 126071558 C T - WASHC5 28984 WASH complex subunit 5 NM_014846.3 -1 4166 3480 NP_055661.3 Q12768 substitution intron GRCh37 126071558 126071558 Chr8(GRCh37):g.126071558C>T 1689-19 1689-19 NM_014846.3:c.1689-19G>A p.? p.? 14 13 610657 -19 3' 92.9133 X.14 0.996588 9.27363 92.9133 10.1352 0.996626 9.20989 -0.0155459 rs780904968 yes no Frequency 1 C 0.000000 0 0.000008 0.000065 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000065 2 1 0 0 0 0 1 0 0 246116 15300 33576 9846 17244 30782 111588 22298 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4814815 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||KIAA0196|mRNA|CODING|NM_014846|) . . . . . . . 0.1154 . . . . . . . . 7.893e-06 . . . . . . . . . . . 0 9.42e-06 0 0 0 1.841e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000164961 KIAA0196 KIAA0196 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs780904968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.536e-05 8.126e-06 0 0 0 0 8.962e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs184361892 8 131921819 T C - ADCY8 239 Adenylate cyclase 8 (brain) NM_001115.2 -1 4101 3756 NP_001106.1 P40145 substitution intron GRCh37 131921819 131921819 Chr8(GRCh37):g.131921819T>C 1640+135 1640+135 NM_001115.2:c.1640+135A>G p.? p.? 6 6 103070 135 5' 81.5823 8.90513 0.982354 1.57473 81.5823 8.90513 0.982354 1.57473 0 rs184361892 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.004455 0.000573 0.000000 0.000000 0.000000 0.000000 0.003997 0.019187 0.006110 0.019187 138 5 0 0 0 0 60 67 6 30978 8732 838 302 1620 0 15012 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 138 5 0 0 0 0 60 67 6 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -0.198 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0004 0.0014 . 0.001 . . . . . . 0.5952381 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||ADCY8|mRNA|CODING|NM_001115|) . . . . . . . 0.0631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.24 0.32 182 ENSG00000155897 ADCY8 ADCY8 . . . . . . 233 0.00358594 64976 231 0.0038509 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs184361892 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv891448 . . . . . . . . . . . . . . . 0.0006 0.0045 0 0 0 0.0192 0.0040 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs184361892 rs184361892 1 1538 10 1/0 0,255,255 +rs72727436 8 133961213 T A - TG 11764 Thyroglobulin NM_003235.4 1 8453 8307 NP_003226.4 P01266 substitution intron GRCh37 133961213 133961213 Chr8(GRCh37):g.133961213T>A 5401+25 5401+25 NM_003235.4:c.5401+25T>A p.? p.? 27 27 188450 25 5' 78.5965 9.35354 0.9933 4.35606 78.5965 9.35354 0.9933 4.50541 0 rs72727436 yes no Frequency/1000G 2 T 0.000000 0 0.005391 0.000800 0.017400 0.000000 0.006000 0.004300 0.009437 0.001875 0.002239 0.004236 0.000053 0.011569 0.014984 0.004635 0.009636 0.014984 2585 45 77 43 1 356 1895 106 62 273914 23994 34390 10150 18834 30772 126470 22870 6434 0.000197 0.000167 0.000000 0.000000 0.000000 0.000390 0.000300 0.000000 0.000000 27 2 0 0 0 6 19 0 0 2531 41 77 43 1 344 1857 106 62 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8467 4397 12864 133 9 142 0.0154651 0.00204267 0.010918 0.0154651 0.00204267 0.010918 136 transversion T A T>A 0.000 -0.037 255 PASS 0.0041 0.0041 0.0028 . 0.01 0.0008 0.0054 0.0043 . 0.006 0.017 . . . . . 0.53571427 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||TG|mRNA|CODING|NM_003235|) 0.002 0.011 0.015 0.002 0.011 0.015 . 0.2112 . . . . . . . . 9.771e-03 . . . 0.0017 0.0083 0.0023 0.0002 0.0045 0.0120 0.0113 0.0109 0.0018 0.0096 0.0022 0.0001 0.0044 0.0140 0.0115 0.0109 . . . . . . intronic intronic intronic . . . 0.0054 . . . 0.18 0.4 182 ENSG00000042832 TG TG . . . . . . 732 0.0112657 64976 705 0.0117527 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72727436 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010918 . . . . . 0.0019 0.0096 0.0023 0.0044 5.809e-05 0.0049 0.0151 0.0084 0.0116 0.0018 0.0084 0.0012 0 0 0.0034 0.0144 0.0163 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.015 . rs72727436 rs72727436 rs72727436 1 1538 10 1/0 0,255,255 +rs2929976 8 134251449 T C - NDRG1 7679 N-myc downstream regulated 1 NM_001135242.1 -1 3478 1185 NP_001128714.1 Q92597 substitution intron GRCh37 134251449 134251449 Chr8(GRCh37):g.134251449T>C 944-87 944-87 NM_001135242.1:c.944-87A>G p.? p.? 16 15 605262 -87 3' 78.8886 10.1736 0.749718 13.3181 78.8886 10.1736 0.749718 13.3181 0 134251449 -62.6604 rs2929976 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30927 8722 838 302 1618 0 14973 3494 980 30928 8722 838 302 1618 0 14974 3494 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15463 4361 419 151 809 0 7486 1747 490 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition A G A>G 0.000 0.528 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 0.1567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic intronic . . . 0.0000 . . . 0.44 0.23 182 ENSG00000104419 AX746885 NDRG1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2929976 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs2929976 rs2929976 rs2929976 rs2929976 1 1538 255 1.I 0,0,255 +. 8 139620082 G T - COL22A1 22989 Collagen, type XXII, alpha 1 NM_152888.2 -1 6359 4881 NP_690848.1 Q8NFW1 substitution intron GRCh37 139620082 139620082 Chr8(GRCh37):g.139620082G>T 4032+97 4032+97 NM_152888.2:c.4032+97C>A p.? p.? 57 57 610026 97 5' 74.1084 7.21055 0.929884 5.30524 74.1084 7.21055 0.929884 5.30524 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000133 2 0 0 0 0 0 2 0 0 30964 8720 838 302 1620 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.51282054 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||COL22A1|mRNA|CODING|NM_152888|) . . . . . . . 0.0380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000169436 COL22A1 COL22A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv891514 . . . . . . . . . . . . . . . 0 6.459e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs7837674 8 139688697 A G - COL22A1 22989 Collagen, type XXII, alpha 1 NM_152888.2 -1 6359 4881 NP_690848.1 Q8NFW1 substitution intron GRCh37 139688697 139688697 Chr8(GRCh37):g.139688697A>G 3150+104 3150+104 NM_152888.2:c.3150+104T>C p.? p.? 41 41 610026 104 5' 78.4708 7.52484 0.971345 2.97043 78.4708 7.52484 0.971345 2.97043 0 rs7837674 yes no Frequency/1000G 2 0.000000 0 transition T C T>C 0.039 0.044 111 PASS 0.3 0.48 0.49 0.52 0.57 . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||COL22A1|mRNA|CODING|NM_152888|) . . . . . . . -0.3881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.15 182 ENSG00000169436 COL22A1 COL22A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7837674 0.228 0.254 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv891514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.57 rs7837674 rs7837674 rs7837674 rs7837674 1 1538 255 1.I 0,0,255 +rs576356199 8 142166142 C A - DENND3 29134 DENN domain containing 3 NM_001352890.1 1 5504 3837 NP_001339819.1 substitution intron GRCh37 142166142 142166142 Chr8(GRCh37):g.142166142C>A 1196+73 1196+73 NM_001352890.1:c.1196+73C>A p.? p.? 8 8 617503 73 5' 79.2306 9.64788 0.754518 II.61 79.2306 9.64788 0.754518 II.12 0 rs576356199 yes no Frequency 1 C 0.000000 0 0.000388 0.000229 0.000000 0.000000 0.000000 0.000000 0.000667 0.000000 0.000000 0.000667 12 2 0 0 0 0 10 0 0 30958 8724 838 302 1620 0 15002 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 2 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C A C>A 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||DENND3|mRNA|CODING|NM_014957|) . . . . . . . -0.0032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000105339 DENND3 DENND3 . . . . . . 55 0.000846466 64976 55 0.000916881 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs576356199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 8 142228087 GCTCCGGT G - SLC45A4 29196 Solute carrier family 45, member 4 NM_001286646.1 -1 7233 2427 NP_001273575.1 deletion intron GRCh37 142228087 142228093 Chr8(GRCh37):g.142228087_142228093del 1629+17 1629+23 NM_001286646.1:c.1629+17_1629+23del p.? p.? 4 4 17 5' 95.331 X.37 0.996483 15.0357 95.331 X.37 0.996483 15.6191 0 CGGAGCG 255 Pass . . . . . . . . . . . . . . . . 0.46153846 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000022567 SLC45A4 SLC45A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +. 8 143746087 CCA C - JRK 6199 Jrk homolog (mouse) NM_003724.2 -1 9116 1707 NP_003715.2 deletion frameshift exon NG_012215.1 10311 10312 NG_012215.1:g.10311_10312del 1387 1388 NM_003724.2:c.1387_1388del p.Trp463Glufs*9 p.Trp463Glufs*9 2 603210 1849 3' 84.729 8.75345 0.931995 12.0272 84.729 8.75345 0.931995 12.0272 0 rs559317070 no no 0 0.000000 0 0.999800 1.000000 1.000000 0.999000 1.000000 1.000000 0.999989 0.999956 1.000000 1.000000 1.000000 1.000000 0.999983 1.000000 1.000000 1.000000 266761 22669 34076 9868 18542 29934 120738 24606 6328 266764 22670 34076 9868 18542 29934 120740 24606 6328 0.999978 0.999912 1.000000 1.000000 1.000000 1.000000 0.999967 1.000000 1.000000 133379 11334 17038 4934 9271 14967 60368 12303 3164 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TG 255 Pass 0.98 0.99 0.99 0.98 1. 1. 1. 1. 1. 1. 1. . . . . . 0.97938144 . . . 95 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 97 . . . 1. 1. 1. . . . . . . . . . . . . . 1.000 . . . 1 1.0000 1 1 1 1.0000 1 0.9999 1 1.0000 1 1 0.9998 1.0000 1 0.9999 . frameshift_deletion . . . . ncRNA_exonic exonic splicing . . . . . . . . . . ENSG00000234616 JRK JRK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs33951456 0.304 0.232 . . . . . . . . . . . . . . . . . . . . . 0.999915 . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs33951456 rs33951456 1 1538 255 1.I 0,0,255 +. 8 143763742 G A - PSCA 9500 Prostate stem cell antigen NM_005672.4 1 1023 345 NP_005663.2 substitution 3'UTR GRCh37 143763742 143763742 Chr8(GRCh37):g.143763742G>A *192 *192 NM_005672.4:c.*192G>A p.? p.? 3 602470 404 3' 81.1768 5.93637 0.647618 8.08344 81.1768 5.93637 0.647618 8.08344 0 0.000032 0.000000 0.000169 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000169 4 0 4 0 0 0 0 0 0 125656 5848 23616 7850 9854 22422 47240 5318 3508 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 113 Exomes transition G A G>A 0.000 -1.893 255 PASS . . . . . . . . . . . . PSCA:uc022bcd.1:exon3:c.G350A:p.R117Q . . . 0.52873564 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . 0.3829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . . . . ENSG00000167653 PSCA PSCA ENST00000301258:c.*192G>A . NM_005672:c.*192G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.183e-05 0.0002 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs144068761 8 144375150 C G - ZNF696 25872 Zinc finger protein 696 NM_030895.2 1 4686 1125 NP_112157.2 Q9H7X3 substitution 5'UTR GRCh37 144375150 144375150 Chr8(GRCh37):g.144375150C>G -22 -22 NM_030895.2:c.-22C>G p.? p.? 2 9 3' 0 6.89076 0.353507 3.63463 0 6.89076 0.266237 3.49553 -0.123435 rs144068761 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.002851 0.000711 0.002742 0.001789 0.000000 0.001570 0.004201 0.002349 0.003108 0.004201 785 17 94 18 0 48 528 60 20 275304 23908 34282 10064 18828 30566 125678 25542 6436 0.000036 0.000000 0.000058 0.000000 0.000000 0.000065 0.000032 0.000078 0.000000 5 0 1 0 0 1 2 1 0 775 17 92 18 0 46 524 58 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4403 12969 34 3 37 0.00395349 0.00068089 0.00284484 0.00395349 0.00068089 0.00284484 52 transversion C G C>G 0.004 0.932 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0004 0.0014 . 0.001 . ENSG00000185730:ENST00000523891:exon3:c.C27G:p.F9L . . . . 0.44444445 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.110 . @ . . . . . 2 0.054 . . 63.0 . . UTR_5_PRIME(MODIFIER||||ZNF696|mRNA|CODING|NM_030895|NM_030895.ex.2) 0.0007 0.0028 0.004 0.0007 0.0028 0.004 . -0.5307 -0.750 -0.531 c . . . . . 2.819e-03 . . . 0.0010 0.0030 0.0034 0 0.0018 0.0046 0.0034 0.0016 0.0008 0.0030 0.0035 0 0.0031 0.0041 0.0036 0.0017 nonsynonymous_SNV . . . . . exonic UTR5 UTR5 . . 0.203 0.0004 . . . 0.38 0.45 182 ENSG00000185730 ZNF696 ZNF696 . uc003yxy.4:c.-22C>G NM_030895:c.-22C>G 1.000 0.480 . 175 0.0026933 64976 173 0.00288401 59986 . . 0 . . . . . . . . . . . 37 . 0.590 . . 0.609 . . . . 0.810 . . . . . . . . . . . . . . . 0.534 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . 0.180 . 0.255 . HET . rs144068761 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 V.79 8.03E-4 ENST00000523891 I.24 I.24 . 0.000000 . . . . 0.002845 . 0.053 . . . 0.0007 0.0030 0.0027 0.0018 0 0.0024 0.0044 0.0035 0.0016 0.0008 0.0018 0.0036 0 0 0.0023 0.0025 0.0010 . . 0.854 . 1.013 1.013000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.062 0.006 . 0.190 . 0.118 1.013 0.356 0.004 . . rs144068761 rs144068761 1 1538 10 1/0 0,255,255 +rs879984530 8 144873978 T G - SCRIB 30377 Scribbled planar cell polarity protein NM_182706.4 -1 5218 4968 NP_874365.3 substitution intron GRCh37 144873978 144873978 Chr8(GRCh37):g.144873978T>G 4695+68 4695+68 NM_182706.4:c.4695+68A>C p.? p.? 35 34 607733 -68 3' 74.9519 5.97596 0.208135 5.76654 74.9519 5.97596 0.208135 6.13953 0 144873978 -70.4118 rs879984530 no no 0 T 0.000000 0 0.008258 0.007353 0.010929 0.007246 0.008834 0.000000 0.009469 0.005495 0.004566 0.010929 108 27 4 1 5 0 61 8 2 13078 3672 366 138 566 0 6442 1456 438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 27 4 1 5 0 61 8 2 0 0 0 0 0 0 0 0 0 RF 78 Genomes transversion A C A>C 0.000 -0.602 175 PASS . . . . . . . . . . . . . . . . 0.10309278 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . 0.2843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000180900 SCRIB SCRIB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0074 0.0083 0.0109 0.0072 0.0088 0.0055 0.0095 0.0046 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs112565420 8 144942204 G C - EPPK1 15577 Epiplakin 1 NM_031308.3 -1 16007 15267 NP_112598.3 substitution missense exon LRG_880 15429 15429 LRG_880:g.15429C>G 5218 5218 NM_031308.3:c.5218C>G p.Leu1740Val p.Leu1740Val 2 607553 5263 3' 89.889 XI.65 0.975659 XI.04 89.889 XI.65 0.975659 XI.04 0 Cryptic Donor Strongly Activated 15424 4.45944 0.148475 63.2077 8.97904 0.96776 75.9037 rs112565420 no no 0 G 0.000000 0 transversion C G C>G 0.000 L Leu CTG 0.404 V Val GTG 0.468 1740 12 9 Fruitfly 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 136.08 0.00 Tolerated 0.1 II.83 198 PASS . . . . . . . . . . . ENSG00000227184:ENST00000525985:exon2:c.C5218G:p.L1740V EPPK1:uc003zaa.1:exon1:c.C5218G:p.L1740V EPPK1:NM_031308:exon2:c.C5218G:p.L1740V . . 0.15422885 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.150 . @ . . . . . 1 0.124 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L1740V|EPPK1|mRNA|CODING|NM_031308|NM_031308.ex.2) . . . . . . . -0.6079 -0.657 -0.608 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.083 @ . . . 0.33 0.31 182 ENSG00000227184 EPPK1 EPPK1 . . . 0.998 0.360 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.184 0.007 . . 37 . 0.539 . . 0.404 . . . 0.533 0.229 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.375 . . 0.323 . . . . . . 0 . . . . . . 0.092 . 0.068 . HET . rs112565420 . . . . . . . . . . . . 4.038 . ENST00000525985 5.XI -1.45 . 0.300000 E9PPU0 . . . . . 0.233 . . . . . . . . . . . . . . . . . . . . . . 0.821 . -0.502 -0.502000 . . 0.300000 . . 1.0E-198 0.013 0.187 . 0.888 0.998 . 0.028 . 0.416 -0.502 0.917 . . . rs112565420 rs112565420 1 1538 10 1/0 0,201,255 +rs201424010 8 145138351 C T - GPAA1 4446 Glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) NM_003801.3 1 2067 1866 NP_003792.1 O43292 substitution missense exon GRCh37 145138351 145138351 Chr8(GRCh37):g.145138351C>T 314 314 NM_003801.3:c.314C>T p.Thr105Met p.Thr105Met 3 603048 -53 5' 55.0601 0 0.002277 0.876854 55.0601 0 0.002277 0 0 Glycosylphosphatidylinositol rs201424010 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.001000 0.001000 0.000000 0.000415 0.000000 0.000000 0.000000 0.001802 0.000422 0.000245 0.001318 0.000465 0.001802 115 0 0 0 34 13 31 34 3 277082 24002 34418 10150 18866 30780 126620 25790 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 113 0 0 0 34 13 31 32 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8338 4026 12364 2 0 2 0.000239808 0 0.000161734 0.000239808 0 0.000161734 64 transition C T C>T 0.992 1.577 T Thr ACG 0.116 M Met ATG 1.000 105 13 10 C. elegans -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 244.82 0.00 Deleterious 0.02 II.87 good 6.805E-2 0.03278 255 PASS . 0.0005 . . 0.0013 . 0.0004 . 0.001 0.001 . . . GPAA1:NM_003801:exon3:c.C314T:p.T105M . . 0.4241245 . . @ 109 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.549 . @ . . . . . 1 0.926 . . 257.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.3834 0.352 0.383 c . . . . . 3.747e-04 . . . 0 0.0003 0 0.0027 0.0008 0.0002 0 0.0003 0 0.0003 0 0.0015 0.0011 0.0002 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.372 0.0004 . . . 0.33 0.29 182 ENSG00000197858 GPAA1 GPAA1 . . . 1.000 0.747 . 11 0.000169293 64976 9 0.000150035 59986 Uncertain_significance . 0 . 0.460 . . . . T 0.389 0.017 . . 37 . 0.638 . . 0.631 . . . 0.640 0.516 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.684 . . 0 0 0 0 0 0 . 0.715 . . 0.565 . . . . . . 2 0.784 . . . . . 0.442 . 0.241 . HET 0 rs201424010 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 X.67 0.0 . V.27 III.34 . 0.200000 . . . . 0.000162 . 0.307 . . III.34 0 0.0004 0 0 0.0019 0.0014 0.0002 0.0004 0.0004 0 0.0005 0 0 0.0012 0.0009 0.0006 0.0010 . . 0.994 . 1.219 1.219000 . . 0.200000 . . 1.0E-255 0.795 0.294 . 0.653 0.947 . 0.322 . 0.343 1.219 -0.064 0.0013 . . rs201424010 rs201424010 1 1538 10 1/0 0,215,250 +. 8 145151665 TGGCAGTGGGCATGTGGAATACTTCTCC T - CYC1 2579 Cytochrome c-1 NM_001916.4 1 1234 978 NP_001907.2 P08574 deletion intron GRCh37 145151666 145151692 Chr8(GRCh37):g.145151666_145151692del 772+19 772+45 NM_001916.4:c.772+19_772+45del p.? p.? 5 5 123980 19 5' 85.8533 9.47697 0.971991 5.49487 85.8533 9.47697 0.971991 6.16114 0 rs67708571 no no 0 likely_benign 0.000000 0 RCV000486568.1 germline clinical testing Likely benign 1 not specified GGCAGTGGGCATGTGGAATACTTCTCC 255 Pass . . . . . . . . . . . . . . . . 0.987013 . . . 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000179091 CYC1 CYC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs67708571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67708571 rs67708571 rs67708571 1 1538 255 1.I 0,0,255 +. 8 145151665 TGGCAGTGGGCATGTGGAATACTTCTCC T - SHARPIN 25321 SHANK-associated RH domain interactor NM_030974.3 -1 1816 1164 NP_112236.3 Q9H0F6 deletion downstream GRCh37 145151666 145151692 Chr8(GRCh37):g.145151666_145151692del *2012 *2038 NM_030974.3:c.*2012_*2038del p.? p.? 9 611885 2000 3' 83.3193 9.26581 0.986616 8.55575 83.3193 9.26581 0.986616 8.55575 0 rs67708571 no no 0 likely_benign 0.000000 0 RCV000486568.1 germline clinical testing Likely benign 1 not specified GGAGAAGTATTCCACATGCCCACTGCC 255 Pass . . . . . . . . . . . . . . . . 0.987013 . . . 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000179091 CYC1 CYC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs67708571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67708571 rs67708571 rs67708571 1 1538 255 1.I 0,0,255 +rs73717807 8 145151693 A C - CYC1 2579 Cytochrome c-1 NM_001916.4 1 1234 978 NP_001907.2 P08574 substitution intron GRCh37 145151693 145151693 Chr8(GRCh37):g.145151693A>C 772+46 772+46 NM_001916.4:c.772+46A>C p.? p.? 5 5 123980 46 5' 85.8533 9.47697 0.971991 5.49487 85.8533 9.47697 0.971991 5.94956 0 Cryptic Acceptor Strongly Activated 145151704 7.05395 0.687222 81.7433 9.34791 0.86815 81.7433 rs73717807 no no 0 A 0.000000 0 transversion A C A>C 0.000 -0.924 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 0.3426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.21 182 ENSG00000179091 CYC1 CYC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs73717807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . rs73717807 rs73717807 rs73717807 1 1538 255 1.I 0,0,255 +rs73717807 8 145151693 A C - SHARPIN 25321 SHANK-associated RH domain interactor NM_030974.3 -1 1816 1164 NP_112236.3 Q9H0F6 substitution downstream GRCh37 145151693 145151693 Chr8(GRCh37):g.145151693A>C *2011 *2011 NM_030974.3:c.*2011T>G p.? p.? 9 611885 1999 3' 83.3193 9.26581 0.986616 8.55575 83.3193 9.26581 0.986616 8.55575 0 Cryptic Donor Strongly Activated 145151698 0.02365 60.4924 III.42 0.14736 72.8852 rs73717807 no no 0 A 0.000000 0 transversion T G T>G 0.000 -0.924 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 0.3426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.21 182 ENSG00000179091 CYC1 CYC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs73717807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . rs73717807 rs73717807 rs73717807 1 1538 255 1.I 0,0,255 +rs781817530 8 145514935 C T - BOP1 15519 Block of proliferation 1 NM_015201.4 -1 2427 2241 NP_056016.1 Q14137 substitution intron GRCh37 145514935 145514935 Chr8(GRCh37):g.145514935C>T 99+19 99+19 NM_015201.4:c.99+19G>A p.? p.? 1 1 610596 19 5' 79.887 5.88454 0.479004 11.148 79.887 5.88454 0.479004 X.98 0 rs781817530 yes no Frequency 1 C 0.000000 0 0.000225 0.000000 0.000312 0.000604 0.000000 0.000000 0.000313 0.000000 0.000671 0.000604 23 0 4 4 0 0 13 0 2 102268 9544 12802 6628 3188 15738 41536 9852 2980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 0 4 4 0 0 13 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.016 0.125 255 PASS . . . . . . . . . . . . . . . . 0.9 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . . . . . . . . . I.04 . . . . . . . . 1.004e-04 . . . 0 0.0001 0 0 . 0.0005 0 0 0 0.0001 0 0 0 0.0005 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000170727 BOP1 BOP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs781817530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0003 0.0006 0 0 0.0004 0.0005 0 0 0.0002 0.0012 0 0 0 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781817530 8 145514935 C T - HSF1 5224 Heat shock transcription factor 1 NM_005526.2 1 2152 1590 NP_005517.1 Q00613 substitution upstream GRCh37 145514935 145514935 Chr8(GRCh37):g.145514935C>T -505 -505 NM_005526.2:c.-505C>T p.? p.? 1 140580 -622 5' 81.7046 9.35132 0.98 13.9207 81.7046 9.35132 0.98 13.9207 0 Cryptic Acceptor Strongly Activated 145514950 4.19678 0.117244 69.4682 4.81281 0.143366 69.4682 rs781817530 yes no Frequency 1 C 0.000000 0 0.000225 0.000000 0.000312 0.000604 0.000000 0.000000 0.000313 0.000000 0.000671 0.000604 23 0 4 4 0 0 13 0 2 102268 9544 12802 6628 3188 15738 41536 9852 2980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 0 4 4 0 0 13 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.016 0.125 255 PASS . . . . . . . . . . . . . . . . 0.9 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . . . . . . . . . I.04 . . . . . . . . 1.004e-04 . . . 0 0.0001 0 0 . 0.0005 0 0 0 0.0001 0 0 0 0.0005 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000170727 BOP1 BOP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs781817530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0003 0.0006 0 0 0.0004 0.0005 0 0 0.0002 0.0012 0 0 0 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200026961 8 145579931 C G - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579931 145579931 Chr8(GRCh37):g.145579931C>G 1225+29 1225+29 NM_012162.3:c.1225+29G>C p.? p.? 7 7 609076 29 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 5.66896 0 rs200026961 yes no Frequency 1 G 0.000000 0 0.002385 0.002352 0.001347 0.000000 0.002062 0.000820 0.002173 0.007190 0.001079 0.007190 180 19 8 0 4 4 91 52 2 75458 8078 5938 3652 1940 4880 41884 7232 1854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 180 19 8 0 4 4 91 52 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 0.851 236 PASS . . . . . . . . . . . . . . . . 0.26119402 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.7354 . . . . . . . . 3.859e-03 . . . 0.0203 0.0126 0.0054 0.0131 0.0045 0.0137 0.0103 0.0048 0.0228 0.0101 0.0050 0.0118 0.0047 0.0096 0.0167 0.0048 . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.3 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.45 0.0037 0.0027 0.0014 0 0.0023 0.0084 0.0024 0.0013 0.0008 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs200026961 rs200026961 1 1538 10 1/0 0,228,255 +rs200026961 8 145579931 C G - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579931 145579931 Chr8(GRCh37):g.145579931C>G -1504 -1504 NM_001252402.2:c.-1504G>C p.? p.? 1 -1655 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 rs200026961 yes no Frequency 1 G 0.000000 0 0.002385 0.002352 0.001347 0.000000 0.002062 0.000820 0.002173 0.007190 0.001079 0.007190 180 19 8 0 4 4 91 52 2 75458 8078 5938 3652 1940 4880 41884 7232 1854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 180 19 8 0 4 4 91 52 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.008 0.851 236 PASS . . . . . . . . . . . . . . . . 0.26119402 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . 0.7354 . . . . . . . . 3.859e-03 . . . 0.0203 0.0126 0.0054 0.0131 0.0045 0.0137 0.0103 0.0048 0.0228 0.0101 0.0050 0.0118 0.0047 0.0096 0.0167 0.0048 . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.3 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.45 0.0037 0.0027 0.0014 0 0.0023 0.0084 0.0024 0.0013 0.0008 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs200026961 rs200026961 1 1538 10 1/0 0,228,255 +rs200985955 8 145579932 C T - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579932 145579932 Chr8(GRCh37):g.145579932C>T 1225+28 1225+28 NM_012162.3:c.1225+28G>A p.? p.? 7 7 609076 28 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 6.1134 0 Cryptic Donor Strongly Activated 145579931 8.48112 0.209541 81.6581 10.0684 0.774766 90.6189 rs200985955 yes no Frequency 1 T 0.000000 0 0.002587 0.002360 0.001346 0.000000 0.002554 0.001434 0.002249 0.008299 0.001081 0.008299 195 19 8 0 5 7 94 60 2 75370 8052 5944 3662 1958 4882 41792 7230 1850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 195 19 8 0 5 7 94 60 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.167 226 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.3061 . . . . . . . . 3.876e-03 . . . 0.0205 0.0127 0.0055 0.0162 0.0045 0.0137 0.0104 0.0048 0.0230 0.0102 0.0051 0.0130 0.0047 0.0097 0.0169 0.0049 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.33 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0029 0.0014 0 0.0028 0.0097 0.0025 0.0013 0.0014 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . rs200985955 rs200985955 1 1538 10 1/0 0,227,255 +rs200985955 8 145579932 C T - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579932 145579932 Chr8(GRCh37):g.145579932C>T -1505 -1505 NM_001252402.2:c.-1505G>A p.? p.? 1 -1656 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 Cryptic Donor Strongly Activated 145579931 8.48112 0.209541 81.6581 10.0684 0.774766 90.6189 rs200985955 yes no Frequency 1 T 0.000000 0 0.002587 0.002360 0.001346 0.000000 0.002554 0.001434 0.002249 0.008299 0.001081 0.008299 195 19 8 0 5 7 94 60 2 75370 8052 5944 3662 1958 4882 41792 7230 1850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 195 19 8 0 5 7 94 60 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.167 226 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . 0.3061 . . . . . . . . 3.876e-03 . . . 0.0205 0.0127 0.0055 0.0162 0.0045 0.0137 0.0104 0.0048 0.0230 0.0102 0.0051 0.0130 0.0047 0.0097 0.0169 0.0049 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.33 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0029 0.0014 0 0.0028 0.0097 0.0025 0.0013 0.0014 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . rs200985955 rs200985955 1 1538 10 1/0 0,227,255 +rs112211890 8 145579936 C T - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579936 145579936 Chr8(GRCh37):g.145579936C>T 1225+24 1225+24 NM_012162.3:c.1225+24G>A p.? p.? 7 7 609076 24 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 6.0411 0 New Acceptor Site 145579934 0.84139 0.002025 69.3388 rs112211890 yes no Frequency 1 T 0.000000 0 0.002758 0.002498 0.001518 0.000274 0.003074 0.001441 0.002426 0.008491 0.001082 0.008491 207 20 9 1 6 7 101 61 2 75064 8008 5928 3650 1952 4858 41636 7184 1848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 207 20 9 1 6 7 101 61 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.198 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.3929 . . . . . . . . 4.042e-03 . . . 0.0207 0.0127 0.0055 0.0146 0.0046 0.0137 0.0106 0.0049 0.0232 0.0102 0.0051 0.0131 0.0047 0.0096 0.0170 0.0049 . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.34 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.217 0.225 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0031 0.0016 0.0003 0.0033 0.0100 0.0027 0.0013 0.0014 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.22 . . rs112211890 rs112211890 1 1538 10 1/0 0,230,255 +rs112211890 8 145579936 C T - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579936 145579936 Chr8(GRCh37):g.145579936C>T -1509 -1509 NM_001252402.2:c.-1509G>A p.? p.? 1 -1660 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 New Acceptor Site 145579934 0.84139 0.002025 69.3388 rs112211890 yes no Frequency 1 T 0.000000 0 0.002758 0.002498 0.001518 0.000274 0.003074 0.001441 0.002426 0.008491 0.001082 0.008491 207 20 9 1 6 7 101 61 2 75064 8008 5928 3650 1952 4858 41636 7184 1848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 207 20 9 1 6 7 101 61 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.198 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . 0.3929 . . . . . . . . 4.042e-03 . . . 0.0207 0.0127 0.0055 0.0146 0.0046 0.0137 0.0106 0.0049 0.0232 0.0102 0.0051 0.0131 0.0047 0.0096 0.0170 0.0049 . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.34 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.217 0.225 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0031 0.0016 0.0003 0.0033 0.0100 0.0027 0.0013 0.0014 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.22 . . rs112211890 rs112211890 1 1538 10 1/0 0,230,255 +rs4993864 8 145579943 C A - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579943 145579943 Chr8(GRCh37):g.145579943C>A 1225+17 1225+17 NM_012162.3:c.1225+17G>T p.? p.? 7 7 609076 17 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 6.02786 0 rs4993864 yes no Frequency/1000G 2 A 0.000000 0 0.381390 0.327500 0.433500 0.453400 0.330000 0.380400 0.003393 0.002999 0.001689 0.000274 0.003605 0.001644 0.002523 0.012989 0.002697 0.012989 255 24 10 1 7 8 105 95 5 75158 8002 5920 3650 1942 4866 41610 7314 1854 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000273 0.000000 1 0 0 0 0 0 0 1 0 253 24 10 1 7 8 105 93 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 0.770 242 PASS . . . . . 0.33 0.38 0.38 0.45 0.33 0.43 . . . . . 0.28099173 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . 0.5324 . . . . . . . . 4.357e-03 . . . 0.0216 0.0132 0.0066 0.0163 0.0045 0.0140 0.0158 0.0049 0.0246 0.0107 0.0063 0.0144 0.0047 0.0100 0.0170 0.0049 . . . . . . intronic intronic intronic . . . 0.3814 . . . 0.35 0.27 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.272 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0038 0.0017 0.0003 0.0039 0.0147 0.0028 0.0031 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . 0.27 rs4993864 rs4993864 rs4993864 rs4993864 1 1538 10 1/0 0,234,255 +rs4993864 8 145579943 C A - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579943 145579943 Chr8(GRCh37):g.145579943C>A -1516 -1516 NM_001252402.2:c.-1516G>T p.? p.? 1 -1667 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 rs4993864 yes no Frequency/1000G 2 A 0.000000 0 0.381390 0.327500 0.433500 0.453400 0.330000 0.380400 0.003393 0.002999 0.001689 0.000274 0.003605 0.001644 0.002523 0.012989 0.002697 0.012989 255 24 10 1 7 8 105 95 5 75158 8002 5920 3650 1942 4866 41610 7314 1854 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000273 0.000000 1 0 0 0 0 0 0 1 0 253 24 10 1 7 8 105 93 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 0.770 242 PASS . . . . . 0.33 0.38 0.38 0.45 0.33 0.43 . . . . . 0.28099173 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . 0.5324 . . . . . . . . 4.357e-03 . . . 0.0216 0.0132 0.0066 0.0163 0.0045 0.0140 0.0158 0.0049 0.0246 0.0107 0.0063 0.0144 0.0047 0.0100 0.0170 0.0049 . . . . . . intronic intronic intronic . . . 0.3814 . . . 0.35 0.27 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.272 0.297 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0038 0.0017 0.0003 0.0039 0.0147 0.0028 0.0031 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . 0.27 rs4993864 rs4993864 rs4993864 rs4993864 1 1538 10 1/0 0,234,255 +rs4993863 8 145579950 G A - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579950 145579950 Chr8(GRCh37):g.145579950G>A 1225+10 1225+10 NM_012162.3:c.1225+10C>T p.? p.? 7 7 609076 10 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.069921 4.95345 0 rs4993863 yes no Frequency/1000G 2 A 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 0.003675 0.002196 0.001761 0.000232 0.004040 0.001628 0.002870 0.015541 0.002538 0.015541 292 23 11 1 8 8 121 115 5 79460 10474 6246 4312 1980 4914 42164 7400 1970 0.000076 0.000000 0.000320 0.000000 0.000000 0.000000 0.000047 0.000270 0.000000 3 0 1 0 0 0 1 1 0 286 23 9 1 8 8 119 113 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426570|COSM5426570 Large intestine|Haematopoietic and lymphoid tissue 0.002241|0.000283 2231|3530 transition C T C>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.3882353 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.2700 . . . . . . . . . . . . 0.0173 0.0119 0.0058 0.0146 0.0042 0.0130 0.0095 0.0046 0.0196 0.0096 0.0055 0.0123 0.0043 0.0093 0.0101 0.0046 . . . . . . intronic intronic intronic . . . 0.4482 . . . 0.32 0.3 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.304 0.319 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0042 0.0018 0.0002 0.0044 0.0177 0.0032 0.0029 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 rs4993863 rs4993863 rs4993863 rs4993863 1 1538 10 1/0 0,255,255 +rs4993863 8 145579950 G A - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579950 145579950 Chr8(GRCh37):g.145579950G>A -1523 -1523 NM_001252402.2:c.-1523C>T p.? p.? 1 -1674 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 rs4993863 yes no Frequency/1000G 2 A 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 0.003675 0.002196 0.001761 0.000232 0.004040 0.001628 0.002870 0.015541 0.002538 0.015541 292 23 11 1 8 8 121 115 5 79460 10474 6246 4312 1980 4914 42164 7400 1970 0.000076 0.000000 0.000320 0.000000 0.000000 0.000000 0.000047 0.000270 0.000000 3 0 1 0 0 0 1 1 0 286 23 9 1 8 8 119 113 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426570|COSM5426570 Large intestine|Haematopoietic and lymphoid tissue 0.002241|0.000283 2231|3530 transition C T C>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.3882353 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . . . . . . . . . 0.2700 . . . . . . . . . . . . 0.0173 0.0119 0.0058 0.0146 0.0042 0.0130 0.0095 0.0046 0.0196 0.0096 0.0055 0.0123 0.0043 0.0093 0.0101 0.0046 . . . . . . intronic intronic intronic . . . 0.4482 . . . 0.32 0.3 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.304 0.319 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0042 0.0018 0.0002 0.0044 0.0177 0.0032 0.0029 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 rs4993863 rs4993863 rs4993863 rs4993863 1 1538 10 1/0 0,255,255 +rs4993862 8 145579953 T A - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579953 145579953 Chr8(GRCh37):g.145579953T>A 1225+7 1225+7 NM_012162.3:c.1225+7A>T p.? p.? 7 7 609076 7 5' 72.3235 1.32792 0.069921 6.30568 72.3235 1.32792 0.02428 0 -0.217584 Cryptic Acceptor Strongly Activated 145579954 1.82257 6.1e-05 64.0786 4.12441 0.00055 64.0786 rs4993862 yes no Frequency/1000G 2 C 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 0.004043 0.003134 0.002040 0.000275 0.004158 0.001649 0.003025 0.016072 0.002691 0.016072 304 25 12 1 8 8 126 119 5 75184 7978 5882 3640 1924 4850 41648 7404 1858 0.000133 0.000000 0.000680 0.000000 0.000000 0.000000 0.000096 0.000270 0.000000 5 0 2 0 0 0 2 1 0 294 25 8 1 8 8 122 117 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426546|COSM5426546 Large intestine|Haematopoietic and lymphoid tissue 0.000896|0.000283 2231|3530 transversion A T A>T 0.000 -3.830 252 PASS . . . . . 0.32 0.37 0.37 0.45 0.32 0.42 . . . . . 0.37209302 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.5504 . . . . . . . . 6.557e-03 . . . 0.0146 0.0078 0.0032 0.0080 0.0033 0.0096 0.0063 0.0017 0.0173 0.0065 0.0030 0.0072 0.0034 0.0069 0.0068 0.0017 . . . . . . intronic intronic intronic . . . 0.3720 . . . 0.41 0.31 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.034 . . . . . . . 0.0050 0.0046 0.0021 0.0003 0.0045 0.0183 0.0034 0.0031 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs4993862 rs4993862 rs4993862 rs4993862 1 1538 10 1/0 0,255,255 +rs4993862 8 145579953 T A - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579953 145579953 Chr8(GRCh37):g.145579953T>A -1526 -1526 NM_001252402.2:c.-1526A>T p.? p.? 1 -1677 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 Cryptic Acceptor Strongly Activated 145579954 1.82257 6.1e-05 64.0786 4.12441 0.00055 64.0786 rs4993862 yes no Frequency/1000G 2 C 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 0.004043 0.003134 0.002040 0.000275 0.004158 0.001649 0.003025 0.016072 0.002691 0.016072 304 25 12 1 8 8 126 119 5 75184 7978 5882 3640 1924 4850 41648 7404 1858 0.000133 0.000000 0.000680 0.000000 0.000000 0.000000 0.000096 0.000270 0.000000 5 0 2 0 0 0 2 1 0 294 25 8 1 8 8 122 117 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426546|COSM5426546 Large intestine|Haematopoietic and lymphoid tissue 0.000896|0.000283 2231|3530 transversion A T A>T 0.000 -3.830 252 PASS . . . . . 0.32 0.37 0.37 0.45 0.32 0.42 . . . . . 0.37209302 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.5504 . . . . . . . . 6.557e-03 . . . 0.0146 0.0078 0.0032 0.0080 0.0033 0.0096 0.0063 0.0017 0.0173 0.0065 0.0030 0.0072 0.0034 0.0069 0.0068 0.0017 . . . . . . intronic intronic intronic . . . 0.3720 . . . 0.41 0.31 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.034 . . . . . . . 0.0050 0.0046 0.0021 0.0003 0.0045 0.0183 0.0034 0.0031 0.0016 0 0.0005 0 0 0 0.0028 0.0004 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs4993862 rs4993862 rs4993862 rs4993862 1 1538 10 1/0 0,255,255 +rs4993861 8 145579954 G A - FBXL6 13603 F-box and leucine-rich repeat protein 6 NM_012162.3 -1 1799 1620 NP_036294.2 Q8N531 substitution intron GRCh37 145579954 145579954 Chr8(GRCh37):g.145579954G>A 1225+6 1225+6 NM_012162.3:c.1225+6C>T p.? p.? 7 7 609076 6 5' 72.3235 1.32792 0.069921 6.30568 78.1021 3.99481 0.696804 8.79707 3.68461 Cryptic Donor Strongly Activated 145579960 1.32792 0.069921 72.3235 3.99481 0.696804 78.1021 rs4993861 yes no Frequency/1000G 2 A 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 COSM5426545|COSM5426545 Large intestine|Haematopoietic and lymphoid tissue 0.002241|0.000283 2231|3530 transition C T C>T 0.000 -0.844 255 PASS . . . . . 0.32 0.37 0.37 0.45 0.32 0.42 . . . . . 0.34146342 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . 0.3186 . . . . . . . . 5.751e-03 . . . 0.0125 0.0064 0.0025 0.0045 0.0027 0.0086 0.0090 0.0014 0.0150 0.0053 0.0023 0.0046 0.0028 0.0061 0.0075 0.0015 . . . . . . intronic intronic intronic . . . 0.3720 . . . 0.35 0.29 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4993861 rs4993861 rs4993861 rs4993861 1 1538 10 1/0 0,255,255 +rs4993861 8 145579954 G A - TMEM249 44155 Transmembrane protein 249 NM_001252402.2 -1 994 708 NP_001239331.1 Q2WGJ8 substitution upstream GRCh37 145579954 145579954 Chr8(GRCh37):g.145579954G>A -1527 -1527 NM_001252402.2:c.-1527C>T p.? p.? 1 -1678 5' 69.8529 8.66587 0.885513 XI.31 69.8529 8.66587 0.885513 XI.31 0 Cryptic Donor Strongly Activated 145579960 1.32792 0.069921 72.3235 3.99481 0.696804 78.1021 rs4993861 yes no Frequency/1000G 2 A 0.000000 0 0.372005 0.322200 0.415100 0.453400 0.315100 0.370300 COSM5426545|COSM5426545 Large intestine|Haematopoietic and lymphoid tissue 0.002241|0.000283 2231|3530 transition C T C>T 0.000 -0.844 255 PASS . . . . . 0.32 0.37 0.37 0.45 0.32 0.42 . . . . . 0.34146342 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . 0.3186 . . . . . . . . 5.751e-03 . . . 0.0125 0.0064 0.0025 0.0045 0.0027 0.0086 0.0090 0.0014 0.0150 0.0053 0.0023 0.0046 0.0028 0.0061 0.0075 0.0015 . . . . . . intronic intronic intronic . . . 0.3720 . . . 0.35 0.29 182 . FBXL6 FBXL6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4993861 rs4993861 rs4993861 rs4993861 1 1538 10 1/0 0,255,255 +rs375049839 8 145738238 G A - MFSD3 25157 Major facilitator superfamily domain containing 3 NM_138431.2 1 1601 1239 NP_612440.1 Q96ES6 substitution downstream GRCh37 145738238 145738238 Chr8(GRCh37):g.145738238G>A *1691 *1691 NM_138431.2:c.*1691G>A p.? p.? 5 1865 3' 76.9732 7.92308 0.951645 9.95167 76.9732 7.92308 0.951645 9.95167 0 New Acceptor Site 145738240 5.87626 0.302258 79.2864 rs375049839 yes no Frequency 1 G uncertain_significance 0.000000 0 0.000262 0.000000 0.000275 0.000937 0.000000 0.000000 0.000408 0.000000 0.000326 0.000937 68 0 9 9 0 0 48 0 2 259656 22228 32698 9604 17948 28998 117584 24460 6136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 0 9 9 0 0 48 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8454 4172 12626 2 0 2 0.000236518 0 0.000158378 0.000236518 0 0.000158378 21 RCV000465330.1 germline clinical testing VUS 1 Baller-Gerold syndrome transition G A G>A 0.630 0.770 255 PASS . . . . . . . . . . . ENSG00000160957:ENST00000428558:exon16:c.C2747T:p.P916L RECQL4:uc003zdj.3:exon16:c.C2747T:p.P916L RECQL4:NM_004260:exon16:c.C2747T:p.P916L . . 0.42173913 . . @ 97 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.600 . @ . . . . . 1 0.157 . . 230.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 2.0402 4.050 2.040 n . . . . . 3.003e-04 . . . 0 0.0005 0.0004 0 0 0.0010 0 0 0 0.0005 0.0004 0 0 0.0008 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.221 @ . . . 0.44 0.06 182 ENSG00000160957 RECQL4 RECQL4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.559 0.035 . . 37 . . . . . . . . 0.778 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.430 . . 0.359 . . . . . . 2 . . . . . . 0.072 . 0.388 . HET 0.15 rs375049839 . . . . . . . . . . . . . . . . . . . . . . . 0.000158 . 0.435 . . . 0 0.0003 0.0003 0.0010 0 0 0.0004 0.0002 0 0 0.0002 0.0012 0 0 0 0.0002 0.0010 . . 0.036 . . . . . . . . 1.0E-255 0.004 0.165 . 0.301 0.015 . 0.353 . 0.551 . -0.469 0.0002 . . rs375049839 rs375049839 1 1538 10 1/0 0,218,247 +rs375049839 8 145738238 G A - RECQL4 9949 RecQ like helicase 4 ENST00000428558.2 -1 3816 3627 NP_004251.3 substitution missense exon GRCh37 145738238 145738238 Chr8(GRCh37):g.145738238G>A 2747 2747 ENST00000428558.2:c.2747C>T p.Pro916Leu p.Pro916Leu 16 603780 -9 5' 81.3514 7.13226 0.632945 4.84169 81.3514 7.13226 0.632945 4.25756 0 rs375049839 yes no Frequency 1 G uncertain_significance 0.000000 0 0.000262 0.000000 0.000275 0.000937 0.000000 0.000000 0.000408 0.000000 0.000326 0.000937 68 0 9 9 0 0 48 0 2 259656 22228 32698 9604 17948 28998 117584 24460 6136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 0 9 9 0 0 48 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8454 4172 12626 2 0 2 0.000236518 0 0.000158378 0.000236518 0 0.000158378 21 RCV000465330.1 germline clinical testing VUS 1 Baller-Gerold syndrome transition C T C>T 0.630 0.770 P Pro CCG 0.115 L Leu CTG 0.404 916 12 5 Fruitfly -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 113.69 55.05 Tolerated 0.19 II.69 255 PASS . . . . . . . . . . . ENSG00000160957:ENST00000428558:exon16:c.C2747T:p.P916L RECQL4:uc003zdj.3:exon16:c.C2747T:p.P916L RECQL4:NM_004260:exon16:c.C2747T:p.P916L . . 0.42173913 . . @ 97 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.600 . @ . . . . . 1 0.157 . . 230.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 2.0402 4.050 2.040 n . . . . . 3.003e-04 . . . 0 0.0005 0.0004 0 0 0.0010 0 0 0 0.0005 0.0004 0 0 0.0008 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.221 @ . . . 0.44 0.06 182 ENSG00000160957 RECQL4 RECQL4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.559 0.035 . . 37 . . . . . . . . 0.778 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.430 . . 0.359 . . . . . . 2 . . . . . . 0.072 . 0.388 . HET 0.15 rs375049839 . . . . . . . . . . . . . . . . . . . . . . . 0.000158 . 0.435 . . . 0 0.0003 0.0003 0.0010 0 0 0.0004 0.0002 0 0 0.0002 0.0012 0 0 0 0.0002 0.0010 . . 0.036 . . . . . . . . 1.0E-255 0.004 0.165 . 0.301 0.015 . 0.353 . 0.551 . -0.469 0.0002 . . rs375049839 rs375049839 1 1538 10 1/0 0,218,247 +. 9 12234 C A - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution exon GRCh37 12234 12234 Chr9(GRCh37):g.12234C>A 248 248 NR_051986.1:n.248C>A 1 -107 5' 78.9497 9.09184 0.971166 4.41927 78.9497 9.09184 0.971166 4.41927 0 0.004162 0.007940 0.000000 0.018072 0.000707 0.000000 0.003311 0.002756 0.005155 0.018072 76 32 0 3 1 0 32 5 3 18260 4030 590 166 1414 0 9664 1814 582 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 32 0 3 1 0 32 5 3 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion C A C>A 0.000 -1.651 201 PASS . . . . . . . . . . . . . . . . 0.16176471 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 68.0 . . . . . . . . . . -0.7590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.42 0.29 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0042 0 0.0181 0.0007 0.0028 0.0033 0.0052 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . rs7357887 rs7357887 rs7357887 rs7357887 1 1538 10 1/0 0,248,255 +. 9 13383 T C - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution exon GRCh37 13383 13383 Chr9(GRCh37):g.13383T>C 513 513 NR_051986.1:n.513T>C 3 50 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25024 6284 758 190 1544 0 12044 3384 820 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition T C T>C 1.000 0.205 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . 0.1532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.41 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs74713238 rs74713238 1 1538 10 1.I 0,0,0 +. 9 13383 T C - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution downstream GRCh37 13383 13383 Chr9(GRCh37):g.13383T>C *1424 *1424 NM_182905.4:c.*1424A>G p.? p.? 11 613632 1558 3' 93.5871 8.33551 0.970926 8.67739 93.5871 8.33551 0.970926 8.67739 0 New Acceptor Site 13382 2.69444 0.001894 61.3582 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25024 6284 758 190 1544 0 12044 3384 820 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition A G A>G 1.000 0.205 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . 0.1532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.41 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs74713238 rs74713238 1 1538 10 1.I 0,0,0 +. 9 13384 T C - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution exon GRCh37 13384 13384 Chr9(GRCh37):g.13384T>C 514 514 NR_051986.1:n.514T>C 3 51 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 Cryptic Acceptor Weakly Activated 13387 0.001943 65.402 0.162297 0.001205 71.5787 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24930 6258 754 184 1530 0 12004 3378 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition T C T>C 1.000 0.690 183 PASS . . . . . . . . . . . . . . . . 0.120300755 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 133.0 . . . . . . . . . . 0.1940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.45 0.37 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs78041349 rs78041349 1 1538 10 1.I 0,0,0 +. 9 13384 T C - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution downstream GRCh37 13384 13384 Chr9(GRCh37):g.13384T>C *1423 *1423 NM_182905.4:c.*1423A>G p.? p.? 11 613632 1557 3' 93.5871 8.33551 0.970926 8.67739 93.5871 8.33551 0.970926 8.67739 0 Cryptic Acceptor Weakly Activated 13377 5.31963 0.025102 80.8282 5.61968 0.039938 80.5755 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24930 6258 754 184 1530 0 12004 3378 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 34 Genomes transition A G A>G 1.000 0.690 183 PASS . . . . . . . . . . . . . . . . 0.120300755 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 133.0 . . . . . . . . . . 0.1940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.45 0.37 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs78041349 rs78041349 1 1538 10 1.I 0,0,0 +. 9 13415 A T - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution exon GRCh37 13415 13415 Chr9(GRCh37):g.13415A>T 545 545 NR_051986.1:n.545A>T 3 82 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 0.004451 0.009192 0.000000 0.007246 0.003776 0.000000 0.003483 0.001647 0.006431 0.009192 85 38 0 1 5 0 32 5 4 19096 4134 654 138 1324 0 9188 3036 622 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 38 0 1 5 0 32 5 4 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A T A>T 0.992 2.304 211 PASS . . . . . . . . . . . . . . . . 0.18666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . 0.4805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.3 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0092 0.0045 0 0.0072 0.0038 0.0016 0.0035 0.0064 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . rs71249500 rs28532600 rs28532600 1 1538 10 1/0 0,217,255 +. 9 13415 A T - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution downstream GRCh37 13415 13415 Chr9(GRCh37):g.13415A>T *1392 *1392 NM_182905.4:c.*1392T>A p.? p.? 11 613632 1526 3' 93.5871 8.33551 0.970926 8.67739 93.5871 8.33551 0.970926 8.67739 0 0.004451 0.009192 0.000000 0.007246 0.003776 0.000000 0.003483 0.001647 0.006431 0.009192 85 38 0 1 5 0 32 5 4 19096 4134 654 138 1324 0 9188 3036 622 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 38 0 1 5 0 32 5 4 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion T A T>A 0.992 2.304 211 PASS . . . . . . . . . . . . . . . . 0.18666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . 0.4805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.3 182 ENSG00000236875 DDX11L5 DDX11L5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0092 0.0045 0 0.0072 0.0038 0.0016 0.0035 0.0064 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . rs71249500 rs28532600 rs28532600 1 1538 10 1/0 0,217,255 +rs371198505 9 15066 G A - DDX11L5 37106 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 NR_051986.1 1 1655 0 substitution downstream GRCh37 15066 15066 Chr9(GRCh37):g.15066G>A *541 *541 NR_051986.1:n.*541G>A p.? p.? 3 1733 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 rs371198505 yes no Frequency 1 0.000000 0 0.000259 0.000212 0.000562 0.000000 0.000000 0.000249 0.000193 0.000295 0.000665 0.000562 28 2 10 0 0 3 8 3 2 107908 9454 17782 3734 10168 12058 41536 10170 3006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 2 10 0 0 3 8 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.005 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.4640 . . . . . . . . 1.642e-04 . . . 0 0.0016 0 0 . 0.0024 0 0.0011 0 0.0008 0 0 . 0 0 0.0011 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.33 0.2 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs371198505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0 0.0001 0.0002 0.0008 0.0002 0.0005 0.0005 0.0065 0 0 0.0007 0.0003 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs74646406 rs371198505 1 1538 10 1/0 0,219,255 +rs371198505 9 15066 G A - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 15066 15066 Chr9(GRCh37):g.15066G>A 1264+15 1264+15 NM_182905.4:c.1264+15C>T p.? p.? 10 10 613632 15 5' 75.323 6.45258 0.814298 6.42202 75.323 6.45258 0.814298 6.20067 0 rs371198505 yes no Frequency 1 0.000000 0 0.000259 0.000212 0.000562 0.000000 0.000000 0.000249 0.000193 0.000295 0.000665 0.000562 28 2 10 0 0 3 8 3 2 107908 9454 17782 3734 10168 12058 41536 10170 3006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 2 10 0 0 3 8 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.005 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.4640 . . . . . . . . 1.642e-04 . . . 0 0.0016 0 0 . 0.0024 0 0.0011 0 0.0008 0 0 . 0 0 0.0011 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.33 0.2 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs371198505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0 0.0001 0.0002 0.0008 0.0002 0.0005 0.0005 0.0065 0 0 0.0007 0.0003 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs74646406 rs371198505 1 1538 10 1/0 0,219,255 +. 9 18074 TG T - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 deletion frameshift exon GRCh37 18075 18075 Chr9(GRCh37):g.18075del 361 361 NM_182905.4:c.361del p.His121Thrfs*19 p.His121Thrfs*19 4 613632 -48 5' 74.1653 5.60529 0.303846 5.65534 74.1653 5.60529 0.303846 V.16 0 0.001506 0.000000 0.000000 0.000000 0.000000 0.003731 0.000000 0.000000 0.000000 0.003731 1 0 0 0 0 1 0 0 0 664 2 278 2 20 268 56 2 36 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes C 255 Pass . . . . . . . . . . . . . WASH1:NM_182905:exon4:c.361delC:p.H121fs . . 0.30769232 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 52 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0015 0 0 0 0 0 0 0.0037 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71286110 rs71286110 rs71286110 1 1538 10 1.I 0,10,51 +. 9 19117 A G - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 19117 19117 Chr9(GRCh37):g.19117A>G 150-625 150-625 NM_182905.4:c.150-625T>C p.? p.? 3 2 613632 -625 3' 87.2919 8.66579 0.860904 3.32391 87.2919 8.66579 0.860904 3.32391 0 0.000579 0.000000 0.000000 0.000000 0.000000 0.000000 0.000924 0.000000 0.000000 0.000924 1 0 0 0 0 0 1 0 0 1726 82 76 22 48 0 1082 336 80 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 84 Genomes transition T C T>C 0.102 0.770 255 PASS . . . . . . . . . . . . WASH1:uc003zfu.1:exon1:c.T97C:p.C33R . . . 0.38235295 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.1708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . 0.59 0.17 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11266755 rs11266755 rs11266755 rs11266755 1 1538 10 1/0 0,255,255 +. 9 24382 C T - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 24382 24382 Chr9(GRCh37):g.24382C>T 149+469 149+469 NM_182905.4:c.149+469G>A p.? p.? 2 2 613632 469 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transition G A G>A 0.000 -0.924 197 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||WASH1|mRNA|CODING|NM_182905|) . . . . . . . -0.2931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.28 0.24 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs62028234 rs62028234 rs62028234 rs62028234 1 1538 10 1/0 0,255,255 +. 9 24393 C T - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 24393 24393 Chr9(GRCh37):g.24393C>T 149+458 149+458 NM_182905.4:c.149+458G>A p.? p.? 2 2 613632 458 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 Cryptic Acceptor Strongly Activated 24382 2.4e-05 0.896121 1.3e-05 61.3977 transition G A G>A 0.000 -1.489 211 PASS . . . . . . . . . . . . . . . . 0.1904762 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||WASH1|mRNA|CODING|NM_182905|) . . . . . . . -0.6217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.3 0.24 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs4492552 rs4492552 rs4492552 rs4492552 1 1538 10 1/0 0,255,255 +. 9 24600 T C - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 24600 24600 Chr9(GRCh37):g.24600T>C 149+251 149+251 NM_182905.4:c.149+251A>G p.? p.? 2 2 613632 251 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transition A G A>G 0.000 -1.732 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||WASH1|mRNA|CODING|NM_182905|) . . . . . . . -0.7071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.35 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs8179841 rs8179841 rs8179841 rs8179841 1 1538 10 1/0 0,255,255 +. 9 24624 C G - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution intron GRCh37 24624 24624 Chr9(GRCh37):g.24624C>G 149+227 149+227 NM_182905.4:c.149+227G>C p.? p.? 2 2 613632 227 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transversion G C G>C 0.000 -0.198 188 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||WASH1|mRNA|CODING|NM_182905|) . . . . . . . -0.3432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.32 182 ENSG00000181404 WASH1 WASH1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs4546868 rs4546868 rs4546868 rs4546868 1 1538 10 1/0 0,255,255 +. 9 24899 G A - WASHC1 24361 WASH complex subunit 1 NM_182905.4 -1 1837 1398 NP_878908.4 A8K0Z3 substitution missense exon GRCh37 24899 24899 Chr9(GRCh37):g.24899G>A 101 101 NM_182905.4:c.101C>T p.Ala34Val p.Ala34Val 2 613632 -49 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 6.90847 0 Cryptic Acceptor Strongly Activated 24885 0.762218 0.00392 72.2788 1.26595 0.005379 75.0517 transition C T C>T 0.992 2.546 A Ala GCG 0.107 V Val GTG 0.468 34 12 8 Fruitfly 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.07 III.45 bad 3.921E-4 0.002304 253 PASS . . . . . . . . . . . . WASH1:uc010mgm.1:exon2:c.C101T:p.A34V WASH1:NM_182905:exon2:c.C101T:p.A34V . . 0.33333334 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.287 . @ . . . . . 1 0.383 . . 15.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A34V|WASH1|mRNA|CODING|NM_182905|NM_182905.ex.2) . . . . . . . 0.9467 0.014 0.947 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.205 @ . . . 0.62 0.46 182 ENSG00000181404 WASH1 WASH1 . . . 0.000 0.054 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.556 . . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.505 . . 0.360 . . . . . . 0 . . . . . . 0.186 . 0.336 . HET 0.1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.460 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-253 1.000 0.715 . 0.574 0.997 . 0.728 . 0.280 . 0.697 . rs11266852 rs11266852 rs11266852 rs11266852 1 1538 10 1/0 0,0,0 +rs201303152 9 117367 G C - FOXD4 3805 Forkhead box D4 NM_207305.4 -1 2187 1320 NP_997188.2 Q12950 substitution synonymous exon GRCh37 117367 117367 Chr9(GRCh37):g.117367G>C 753 753 NM_207305.4:c.753C>G p.Pro251= p.Pro251Pro 1 601092 rs201303152 yes no Frequency/1000G 2 0.000000 0 0.167732 0.279900 0.133900 0.053600 0.151100 0.191600 0.000143 0.000096 0.000049 0.000000 0.000125 0.000823 0.000027 0.000000 0.000000 0.000823 23 1 1 0 2 17 2 0 0 161306 10460 20250 6792 16006 20666 72882 10468 3782 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 1 0 2 17 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4163267|COSM4163267 Thyroid|Large intestine 0.001339|0.000448 747|2231 transversion C G C>G 0.016 -0.763 P Pro CCC 0.328 P Pro CCG 0.115 251 238 PASS . . . . . 0.28 0.17 0.19 0.054 0.15 0.13 ENSG00000170122:ENST00000382500:exon1:c.C753G:p.P251P FOXD4:uc003zfz.4:exon1:c.C753G:p.P251P FOXD4:NM_207305:exon1:c.C753G:p.P251P . . 0.27586207 . . @ 8 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.3458 . . . . . . . . 1.181e-04 . . . 0 0.0003 0 0.0002 0 4.729e-05 0 0.0010 0 0.0002 0 0 0 3.294e-05 0 0.0010 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1677 . . . 0.21 0.33 182 ENSG00000170122 FOXD4 FOXD4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs201303152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 5.048e-05 0 0.0001 0 3.114e-05 0 0.0008 0.0002 5.718e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . rs201303152 rs201303152 1 1538 10 1/0 0,255,255 +rs199938577 9 117372 C G - FOXD4 3805 Forkhead box D4 NM_207305.4 -1 2187 1320 NP_997188.2 Q12950 substitution missense exon GRCh37 117372 117372 Chr9(GRCh37):g.117372C>G 748 748 NM_207305.4:c.748G>C p.Gly250Arg p.Gly250Arg 1 601092 rs199938577 yes no Frequency/1000G 2 0.000000 0 0.180112 0.301100 0.144200 0.057500 0.170000 0.193100 0.000044 0.000247 0.000000 0.000000 0.000000 0.000045 0.000055 0.000000 0.000000 0.000247 7 2 0 0 0 1 4 0 0 158446 8092 21364 6936 14782 22096 72780 8850 3546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 0 1 4 0 0 0 0 0 0 0 0 0 0 0 PASS 230 Exomes COSM3735322|COSM3735322|COSM3735322|COSM3735322 Urinary tract|Upper aerodigestive tract|Skin|Large intestine 0.001488|0.005627|0.000812|0.000448 672|1244|1232|2231 transversion G C G>C 0.000 0.044 G Gly GGC 0.342 R Arg CGC 0.190 250 6 2 Platypus -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C15 79.36 68.29 Tolerated 0.17 III.52 255 PASS . . . . . 0.3 0.18 0.19 0.058 0.17 0.14 ENSG00000170122:ENST00000382500:exon1:c.G748C:p.G250R FOXD4:uc003zfz.4:exon1:c.G748C:p.G250R FOXD4:NM_207305:exon1:c.G748C:p.G250R . . 0.33333334 . . @ 9 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.262 . @ . . . . . 1 0.163 . . 27.0 . . . . . . . . . . -1.2423 -1.326 -1.242 c . . . . . 7.827e-05 . . . 0.0003 8.184e-05 0 0 0 9.385e-05 0 9.266e-05 0.0003 8.168e-05 0 0 0 9.831e-05 0 9.323e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.947 . . exonic exonic exonic . . 0.110 0.1801 . . . 0.22 0.3 182 ENSG00000170122 FOXD4 FOXD4 . . . 0.010 0.120 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.835 . . 0.725 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.221 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 3 0.574 . . . . . 0.098 . 0.097 . HET 0.01 rs199938577 . . . . . . . . . . . . 4.179 . ENST00000382500 I.63 -0.612 . 0.030000 Q12950 . . . . . 0.070 . . . 0.0002 4.418e-05 0 0 0 0 5.496e-05 0 4.526e-05 . . . . . . . . . . 0.340 . -0.162 -0.162000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.074 0.001 . 0.128 . 0.105 -0.162 -0.212 . . . rs199938577 rs199938577 1 1538 10 1/0 0,255,255 +rs879988314 9 134956 G A - CBWD1 17134 COBW domain containing 1 NM_018491.3 -1 1723 1188 NP_060961.3 Q9BRT8 substitution intron GRCh37 134956 134956 Chr9(GRCh37):g.134956G>A 816+23 816+23 NM_018491.3:c.816+23C>T p.? p.? 11 11 611078 23 5' 82.8297 9.65432 0.964438 2.83202 82.8297 9.65432 0.964438 2.63964 0 transition C T C>T 0.000 -0.440 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.36 0.11 182 ENSG00000172785 CBWD1 CBWD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs1757270 rs1757270 rs1757270 rs1757270 1 1538 10 1/0 0,255,255 +. 9 169539 G A - CBWD1 17134 COBW domain containing 1 NM_018491.3 -1 1723 1188 NP_060961.3 Q9BRT8 substitution intron GRCh37 169539 169539 Chr9(GRCh37):g.169539G>A 430+2542 430+2542 NM_018491.3:c.430+2542C>T p.? p.? 4 4 611078 2542 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 transition C T C>T 0.012 0.367 209 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.2931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.22 182 ENSG00000172785 CBWD1 CBWD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . rs1756507 rs1756507 rs1756507 rs1756507 1 1538 10 1/0 0,255,255 +rs12380 9 172167 C T - CBWD1 17134 COBW domain containing 1 NM_018491.3 -1 1723 1188 NP_060961.3 Q9BRT8 substitution missense exon GRCh37 172167 172167 Chr9(GRCh37):g.172167C>T 344 344 NM_018491.3:c.344G>A p.Ser115Asn p.Ser115Asn 4 611078 6 3' 90.0895 9.11737 0.94621 2.60796 90.0895 9.11737 0.934979 2.77687 -0.00395649 Cobalamin (vitamin B12) biosynthesis CobW-like rs12380 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 0.000065 2 0 0 0 0 2 0 0 0 276262 23848 34392 10148 18842 30756 126176 25666 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM221745|COSM221745|COSM221745|COSM221745 Upper aerodigestive tract|Skin|Liver|Large intestine 0.003215|0.002435|0.000844|0.000448 1244|1232|2371|2231 transition G A G>A 1.000 0.205 S Ser AGT 0.149 N Asn AAT 0.464 115 11 2 Mouse 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 256.55 0.00 Tolerated 1 III.44 good 9.944E-1 0.5149 199 PASS . . . . . . . . . . . . . . . . 0.15789473 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.021 . . 57.0 . . . . . . . . . . -1.3148 -1.221 -1.315 c . . . . . 1.579e-05 . . . 0 1.104e-05 0 0 0 2.376e-05 0 0 0 9.431e-06 0 0 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.421 . . exonic exonic exonic . . 0.049 @ . . . 0.49 0.37 182 ENSG00000172785 CBWD1 CBWD1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.124 0.005 . . 37 . 0.159 . . 0.136 . . . 0.042 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.040 . . . . . 0.438 . 0.075 . HET 1 rs12380 . . . . . . ID\x3dCOSM221745\x3bOCCURENCE\x3d1(skin) . . . . . X.83 . . III.71 -3.12 . 0.370000 . . . . . . 0.162 . . . 0 8.138e-06 0 0 0 0 0 0 6.503e-05 0 0 0 0 0 0 0 0 . . 0.609 . -1.411 -1.411000 . . 0.370000 . . 1.0E-199 0.998 0.411 . 0.587 0.995 . 0.193 . 0.065 -1.411 -0.872 . rs12380 rs12380 rs12380 rs12380 1 1538 10 1/0 0,255,255 +. 9 449777 T C - DOCK8 19191 Dedicator of cytokinesis 8 NM_203447.3 1 7452 6300 NP_982272.2 Q8NF50 substitution intron GRCh37 449777 449777 Chr9(GRCh37):g.449777T>C 5818-7 5818-7 NM_203447.3:c.5818-7T>C p.? p.? 45 44 611432 -7 3' 77.8667 6.82129 0.045651 4.16841 76.3561 6.71895 0.029626 3.43234 -0.128478 transition T C T>C 0.039 0.125 255 PASS . . . . . . . . . . . . . . . . 0.9166667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . 0.6003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000107099 DOCK8 DOCK8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs190807634 9 2081739 A G - SMARCA2 11098 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 NM_001289396.1 1 5867 4773 NP_001276325.1 P51531 substitution intron GRCh37 2081739 2081739 Chr9(GRCh37):g.2081739A>G 2185-93 2185-93 NM_001289396.1:c.2185-93A>G p.? p.? 15 14 600014 -93 3' 84.9135 6.31691 0.893207 2.32535 84.9135 6.31691 0.893207 2.32535 0 2081739 -65.5428 rs190807634 yes no Frequency/1000G 2 A 0.000000 0 0.004193 0.000800 0.004100 0.000000 0.008900 0.010100 0.008366 0.001836 0.011933 0.000000 0.000000 0.000000 0.012460 0.010315 0.010183 0.012460 259 16 10 0 0 0 187 36 10 30958 8716 838 302 1622 0 15008 3490 982 0.011583 0.000000 0.000000 0.000000 0.000000 0.000000 0.016043 0.000000 0.000000 3 0 0 0 0 0 3 0 0 253 16 10 0 0 0 181 36 10 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.039 -0.117 255 PASS 0.002 0.01 0.02 . 0.01 0.0008 0.0042 0.01 . 0.0089 0.0041 . . . . . 0.5185185 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.6011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.52 0.34 182 ENSG00000080503 SMARCA2 SMARCA2 . . . . . . 787 0.0121122 64976 767 0.0127863 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190807634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0084 0.0119 0 0 0.0103 0.0125 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs190807634 rs190807634 1 1538 10 1/0 0,255,255 +. 9 4713158 TC T - AK3 17376 Adenylate kinase 3 NM_016282.3 -1 4326 684 NP_057366.2 Q9UIJ7 deletion intron GRCh37 4713159 4713159 Chr9(GRCh37):g.4713159del 564-63 564-63 NM_016282.3:c.564-63del p.? p.? 5 4 609290 -63 3' 88.3197 XI.87 0.978825 8.76268 88.3197 XI.87 0.978825 8.77856 0 4713158 -12.4866 rs374481496 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.002000 0.003000 0.002900 0.002714 0.001604 0.000000 0.000000 0.000000 0.000000 0.004467 0.000286 0.002045 0.004467 84 14 0 0 0 0 67 1 2 30956 8726 838 302 1620 0 14998 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 84 14 0 0 0 0 67 1 2 0 0 0 0 0 0 0 0 0 PASS 40 Genomes G 255 Pass . . . . . . 0.0014 0.0029 0.002 0.003 . . . . . . 0.41509435 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000147853 AK3 AK3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs374481496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0027 0 0 0 0.0003 0.0045 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374481496 rs374481496 1 1538 10 1.I 0,12,38 +rs376111896 9 4713160 A G - AK3 17376 Adenylate kinase 3 NM_016282.3 -1 4326 684 NP_057366.2 Q9UIJ7 substitution intron GRCh37 4713160 4713160 Chr9(GRCh37):g.4713160A>G 564-64 564-64 NM_016282.3:c.564-64T>C p.? p.? 5 4 609290 -64 3' 88.3197 XI.87 0.978825 8.76268 88.3197 XI.87 0.978825 8.40048 0 4713158 -24.7594 rs376111896 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.002000 0.003000 0.002900 0.002714 0.001604 0.000000 0.000000 0.000000 0.000000 0.004468 0.000286 0.002045 0.004468 84 14 0 0 0 0 67 1 2 30956 8730 838 302 1618 0 14996 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 84 14 0 0 0 0 67 1 2 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition T C T>C 0.000 0.286 255 PASS . . . . . . 0.0014 0.0029 0.002 0.003 . . . . . . 0.4 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.2906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . . . . ENSG00000147853 AK3 AK3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs376111896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0027 0 0 0 0.0003 0.0045 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs376111896 rs376111896 1 1538 10 1/0 0,255,255 +rs139239113 9 6604513 A T - GLDC 4313 Glycine dehydrogenase (decarboxylating) NM_000170.2 -1 3809 3063 NP_000161.2 P23378 substitution intron GRCh37 6604513 6604513 Chr9(GRCh37):g.6604513A>T 1058+75 1058+75 NM_000170.2:c.1058+75T>A p.? p.? 7 7 238300 75 5' 82.523 9.06409 0.934821 3.85116 82.523 9.06409 0.934821 3.79385 0 rs139239113 yes no Frequency/1000G 2 A 0.000000 0 0.002196 0.000800 0.000000 0.000000 0.009900 0.000000 0.004131 0.000687 0.001193 0.000000 0.000000 0.000000 0.006925 0.002862 0.007128 0.006925 128 6 1 0 0 0 104 10 7 30988 8734 838 302 1620 0 15018 3494 982 0.023438 0.000000 0.000000 0.000000 0.000000 0.000000 0.019231 0.000000 0.142857 3 0 0 0 0 0 2 0 1 122 6 1 0 0 0 100 10 5 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T A T>A 0.000 -0.440 255 PASS . 0.0041 . . 0.01 0.0008 0.0022 . . 0.0099 . . . . . . 0.5882353 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||GLDC|mRNA|CODING|NM_000170|) . . . . . . . 0.0440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.19 0.14 182 ENSG00000178445 GLDC GLDC . . . . . . 362 0.00557129 64976 351 0.00585137 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139239113 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0041 0.0012 0 0 0.0029 0.0069 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139239113 rs139239113 1 1538 10 1/0 0,255,255 +rs149316235 9 18905795 A G - ADAMTSL1 14632 ADAMTS-like 1 NM_001040272.5 1 7843 5289 NP_001035362.3 Q8N6G6 substitution missense exon GRCh37 18905795 18905795 Chr9(GRCh37):g.18905795A>G 4867 4867 NM_001040272.5:c.4867A>G p.Ile1623Val p.Ile1623Val 27 609198 16 3' 90.1317 9.07257 0.934537 10.644 90.1317 9.07257 0.931288 X.68 -0.00115886 Thrombospondin, type 1 repeat rs149316235 yes no Frequency/1000G 2 A 0.000000 0 0.002796 0.003800 0.000000 0.000000 0.007000 0.002900 0.003473 0.001585 0.003320 0.000099 0.000000 0.000920 0.003793 0.010961 0.002638 0.010961 959 38 114 1 0 28 479 282 17 276148 23970 34342 10128 18838 30426 126272 25728 6444 0.000022 0.000000 0.000000 0.000000 0.000000 0.000066 0.000016 0.000078 0.000000 3 0 0 0 0 1 1 1 0 953 38 114 1 0 26 477 280 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8389 4130 12519 29 4 33 0.003445 0.000967586 0.00262906 0.003445 0.000967586 0.00262906 82 transition A G A>G 1.000 1.335 I Ile ATC 0.481 V Val GTC 0.240 1623 12 6 Chicken 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Tolerated 0.87 III.48 255 PASS 0.01 0.0027 0.01 . 0.0013 0.0038 0.0028 0.0029 . 0.007 . . . ADAMTSL1:NM_001040272:exon27:c.A4867G:p.I1623V . . 0.54545456 . . @ 54 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.236 . @ . . . . . 1 0.306 . . 99.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I1623V|ADAMTSL1|mRNA|CODING|NM_001040272|NM_001040272.ex.27) 0.001 0.0026 0.0034 0.001 0.0026 0.0034 . -0.4093 -0.171 -0.409 c . . . . . 3.275e-03 . . . 0.0022 0.0033 0.0023 0 0.0164 0.0041 0.0034 0.0010 0.0020 0.0036 0.0024 0 0.0143 0.0040 0.0035 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.417 0.0028 . . . 0.15 0.37 182 ENSG00000178031 ADAMTSL1 ADAMTSL1 . . . 1.000 0.747 . 196 0.0030165 64976 184 0.00306738 59986 Uncertain_significance . 0 . 0.340 . . . . . . . . . 37 . 0.238 . . 0.150 . . . 0.036 0.301 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.117 . . 0 0 0 0 0 0 . 0.119 . . 0.104 . . . . . . 0 0.054 . . . . . 0.358 . 0.134 . HET 0.52 rs149316235 . . . . . . . 0.0027472527472527475 0.006097560975609756 0.0055248618784530384 0.0 0.0013192612137203166 9.1254 0.001156 . 6.VI III.72 . 0.440000 . . . . 0.002629 . 0.374 . . III.72 0.0020 0.0034 0.0033 0.0001 0 0.0110 0.0037 0.0022 0.0009 0.0009 0.0039 0.0036 0 0 0.0106 0.0046 0.0051 . . 0.392 . 1.090 1.090000 . . 0.440000 . . 1.0E-255 1.000 0.715 . 0.653 0.999 . 0.445 . 0.911 1.090 1.062 0.01 . . rs149316235 rs149316235 1 1538 10 1/0 0,255,255 +rs56037765 9 20944629 G A - FOCAD 23377 Focadhesin NM_017794.4 1 6096 5406 NP_060264.4 Q5VW36 substitution synonymous exon GRCh37 20944629 20944629 Chr9(GRCh37):g.20944629G>A 3411 3411 NM_017794.4:c.3411G>A p.Thr1137= p.Thr1137Thr 31 614606 4 3' 77.549 4.17988 0.540231 1.98268 77.549 4.17988 0.44527 1.77944 -0.0585928 rs56037765 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.002000 0.000000 0.008900 0.001400 0.007205 0.001499 0.002608 0.012183 0.000053 0.006278 0.011000 0.004191 0.007815 0.012183 1982 36 88 123 1 191 1385 108 50 275100 24014 33736 10096 18750 30426 125912 25768 6398 0.000087 0.000000 0.000000 0.000198 0.000000 0.000131 0.000143 0.000000 0.000000 12 0 0 1 0 2 9 0 0 1958 36 88 121 1 187 1367 108 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8492 4396 12888 108 10 118 0.0125581 0.00226963 0.00907274 0.0125581 0.00226963 0.00907274 118 transition G A G>A 0.984 -0.117 T Thr ACG 0.116 T Thr ACA 0.280 1137 255 PASS 0.002 0.0046 . . 0.01 0.0008 0.0026 0.0014 . 0.0089 0.002 . . FOCAD:NM_017794:exon31:c.G3411A:p.T1137T . . 0.5277778 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1137|FOCAD|mRNA|CODING|NM_017794|NM_017794.ex.31) 0.0023 0.0091 0.013 0.0023 0.0091 0.013 . I.12 . . . . . . . . 7.490e-03 . . . 0.0015 0.0072 0.0035 0 0.0050 0.0114 0.0085 0.0054 0.0015 0.0072 0.0033 0 0.0041 0.0110 0.0073 0.0054 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.38 0.24 182 ENSG00000188352 FOCAD FOCAD . . . . . . 599 0.00921879 64976 586 0.00976895 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56037765 . 0.058 . . . . . . . . . . . . . . . . . . . . . 0.009073 . . . . . 0.0013 0.0073 0.0026 0.0123 5.838e-05 0.0043 0.0111 0.0079 0.0063 0.0018 0.0065 0.0024 0.0099 0 0.0037 0.0106 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.013 rs56037765 rs56037765 rs56037765 rs56037765 1 1538 10 1/0 0,255,255 +rs148623971 9 27220155 C G - TEK 11724 TEK tyrosine kinase, endothelial NM_000459.4 1 4771 3375 NP_000450.2 Q02763 substitution intron GRCh37 27220155 27220155 Chr9(GRCh37):g.27220155C>G 3200+12 3200+12 NM_000459.4:c.3200+12C>G p.? p.? 21 21 600221 12 5' 75.3696 8.06904 0.975273 3.84483 75.3696 8.06904 0.975273 3.34878 0 rs148623971 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000361 0.000125 0.000029 0.000000 0.000000 0.000000 0.000752 0.000039 0.000000 0.000752 100 3 1 0 0 0 95 1 0 276628 24010 34394 10136 18802 30772 126260 25792 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 100 3 1 0 0 0 95 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4405 12996 9 1 10 0.00104651 0.000226963 0.000768876 0.00104651 0.000226963 0.000768876 116 RCV000304673.1 germline clinical testing Likely benign 1 Multiple Cutaneous and Mucosal Venous Malformations transversion C G C>G 0.874 1.093 255 PASS 0.002 0.0005 . . . 0.0008 0.0002 . . . . . . . . . 0.44117647 . . germline 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Likely//\@benign Likely_benign RCV000304673.1 Multiple_Cutaneous_and_Mucosal_Venous_Malformations MedGen:OMIM:Orphanet C1838437:600195:ORPHA2451 2 . . . 34.0 . . . 0.0002 0.0008 0.001 0.0002 0.0008 0.001 . 0.6714 . . . . . . . . 3.868e-04 . . . 9.739e-05 0.0004 0 0 0 0.0009 0 0 0.0001 0.0003 0 0 0 0.0006 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.24 0.38 182 ENSG00000120156 TEK TEK . . . . . . 32 0.00049249 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148623971 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000769 . . . . 3.IX 0.0001 0.0004 2.98e-05 0 0 4.485e-05 0.0007 0 0 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs148623971 rs148623971 1 1538 10 1/0 0,255,255 +. 9 28148951 A G - LINGO2 21207 Leucine rich repeat and Ig domain containing 2 NM_001258282.2 -1 14592 1821 NP_001245211.1 Q7L985 substitution intron GRCh37 28148951 28148951 Chr9(GRCh37):g.28148951A>G 146219 146219 NM_001258282.2:c.-36+146255T>C p.? p.? 6 6 609793 146255 5' 94.9812 11.083 0.997761 3.53971 94.9812 11.083 0.997761 3.53971 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30670 8650 830 298 1618 0 14840 3466 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition T C T>C 0.039 0.044 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . -0.3959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000229060 LINGO2 LINGO2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +. 9 33795644 AC A - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 deletion intron GRCh37 33795649 33795649 Chr9(GRCh37):g.33795649del 212-992 212-992 NM_007343.3:c.212-992del p.? p.? 2 1 613578 -992 3' 86.5397 8.59516 0.910015 XI.86 86.5397 8.59516 0.910015 XI.86 0 rs370250357 yes no Frequency 1 C 0.000000 0 0.000022 0.000072 0.000031 0.000000 0.000000 0.000067 0.000010 0.000000 0.000000 0.000072 5 1 1 0 0 2 1 0 0 231598 13850 32456 9574 16236 29874 103972 20458 5178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 1 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 RF 88 Exomes C 255 Pass . . . . . . . . . . . . . . . . 0.10638298 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 141 . . . . . . . . . . . . . . . . . . . 2.313e-03 . . . 0.0018 0.0025 0.0052 0.0042 0.0048 0.0022 0 0.0007 0.0019 0.0028 0.0053 0.0036 0.0046 0.0029 0.0017 0.0007 . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000235481 PRSS3 PRSS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs370250357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.22e-05 2.159e-05 3.081e-05 0 0 0 9.618e-06 0 6.695e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370250357 rs370250357 1 1538 10 1.I 0,4,97 +rs780792340 9 33795646 C A - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 substitution intron GRCh37 33795646 33795646 Chr9(GRCh37):g.33795646C>A 212-995 212-995 NM_007343.3:c.212-995C>A p.? p.? 2 1 613578 -995 3' 86.5397 8.59516 0.910015 XI.86 86.5397 8.59516 0.910015 XI.86 0 rs780792340 yes no Frequency 1 C 0.000000 0 0.000109 0.000085 0.000103 0.000000 0.000000 0.000073 0.000172 0.000000 0.000209 0.000172 22 1 3 0 0 2 15 0 1 202080 11730 29152 9146 13890 27528 87044 18800 4790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 1 3 0 0 2 15 0 1 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transversion C A C>A 0.000 -0.037 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 144.0 . . . . . . . . . . 0.1351 . . . . . . . . 1.973e-04 . . . 0 0.0002 0.0002 0 0.0008 0.0002 0 0.0002 0 0.0002 0.0002 0.0001 0.0005 0.0003 0 0.0002 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000235481 PRSS3 PRSS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs780792340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.525e-05 0.0001 0.0001 0 0 0 0.0002 0.0002 7.265e-05 . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 9 33796802 TAAGTG T - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 deletion splice site GRCh37 33796803 33796807 Chr9(GRCh37):g.33796803_33796807del 371+3 371+7 NM_007343.3:c.371+3_371+7del p.? p.? 2 2 613578 3 5' 83.6343 X.43 0.996049 X.26 58.6592 0 0.011159 0 -0.762473 rs757067965 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 2 0 0 0 0 0 2 0 0 275576 23892 34354 10138 18744 30740 125726 25562 6420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5110363|COSM5110363 Skin|Haematopoietic and lymphoid tissue 0.000812|0.000283 1232|3530 AAGTG 255 Pass . . . . . . . . . . . . . . . . 0.13531353 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 303 . . . . . . . . . . . . . . . . . . . 2.605e-04 . . . 9.63e-05 0.0002 0 0.0002 0 0.0002 0 0.0001 0 8.479e-05 0 0 0 0.0001 0 0.0001 . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000235481 PRSS3 PRSS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs757067965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 6.679e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,87 +rs200466488 9 33796811 G A - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 substitution intron GRCh37 33796811 33796811 Chr9(GRCh37):g.33796811G>A 371+11 371+11 NM_007343.3:c.371+11G>A p.? p.? 2 2 613578 11 5' 83.6343 X.43 0.996049 X.26 83.6343 X.43 0.996049 9.72358 0 rs200466488 yes no Frequency 1 G 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 0.000016 2 0 0 0 0 0 2 0 0 275144 23876 34310 10092 18738 30686 125518 25514 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.609 182 PASS . . . . . . . . . . . . . . . . 0.11676647 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 334.0 . . . . . . . . . . 0.0047 . . . . . . . . 1.263e-04 . . . 0 5.525e-05 0 0 0 9.518e-05 0 6.092e-05 0 5.662e-05 0 0.0001 0 7.375e-05 0 6.127e-05 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.31 0.27 182 ENSG00000235481 PRSS3 PRSS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200466488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 6.695e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs200466488 rs200466488 1 1538 10 1/0 0,176,255 +rs761116640 9 33797929 G C - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 substitution missense exon GRCh37 33797929 33797929 Chr9(GRCh37):g.33797929G>C 474 474 NM_007343.3:c.474G>C p.Arg158Ser p.Arg158Ser 3 613578 103 3' 71.2642 4.27154 0.091283 3.46152 71.2642 4.27154 0.091283 3.46152 0 Peptidase S1/S6, chymotrypsin/Hap rs761116640 yes no Frequency 1 G 0.000000 0 0.000291 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.015152 2 2 0 0 0 0 0 0 0 6866 132 66 256 6 0 6258 2 146 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 306 Genomes COSM5461671 Large intestine 0.000448 2231 transversion G C G>C 0.000 -0.117 R Arg AGG 0.207 S Ser AGC 0.243 158 12 1 -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 153.06 0.00 Tolerated 1 III.75 good 9.995E-1 0.04864 174 PASS . . . . . . . . . . . . . . . . 0.101604275 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.033 . . 187.0 . . . . . . . . . . -2.0482 -2.066 -2.048 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.874 . . exonic exonic exonic . . 0.018 @ . . . . . . ENSG00000010438 PRSS3 PRSS3 . . . 1.000 0.437 . . . . . . . Uncertain_significance . 0 . 0.481 . . . . D 0.556 0.034 . . 37 . 0.555 . . 0.615 . . . 0.030 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 0 0.010 . . . . . 0.178 . 0.570 . LowAF 0.89 . . . . . . . . . . . . . V.25 . . III.62 -6.27 . 1.000000 . . . . . . 0.026 . . . . . . . . . . . . 0.0152 0.0003 0 0 0 0 0 0 . . 0.216 . -0.986 -0.986000 . . 1.000000 . . 1.0E-174 0.014 0.188 . 0.043 0.005 . 0.226 . 0.028 -0.986 -0.745 . . . . . 1 1538 10 1/0 0,199,255 +rs202002598 9 33797932 C G - PRSS3 9486 Protease, serine, 3 NM_007343.3 1 1017 915 NP_031369.2 P35030 substitution missense exon GRCh37 33797932 33797932 Chr9(GRCh37):g.33797932C>G 477 477 NM_007343.3:c.477C>G p.Asp159Glu p.Asp159Glu 3 613578 106 3' 71.2642 4.27154 0.091283 3.46152 71.2642 4.27154 0.091283 3.46152 0 Peptidase S1/S6, chymotrypsin/Hap rs202002598 yes no Frequency 1 C 0.000000 0 0.000080 0.000084 0.000000 0.000000 0.000000 0.000000 0.000150 0.000039 0.000000 0.000150 22 2 0 0 0 0 19 1 0 276596 23848 34410 10150 18802 30782 126410 25744 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 2 0 0 0 0 19 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5461679 Large intestine 0.000448 2231 transversion C G C>G 0.000 -0.763 D Asp GAC 0.539 E Glu GAG 0.583 159 12 1 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 190.55 0.00 Tolerated 0.9 III.75 good 1.103E-1 0.6125 184 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.036 . . 204.0 . . . . . . . . . . -1.9118 -1.941 -1.912 c . . . . . 6.315e-05 . . . 0 4.409e-05 0 0 0 9.496e-05 0 0 0 4.709e-05 0 0 0 9.203e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.885 . . exonic exonic exonic . . 0.043 @ . . . 0.47 0.26 182 ENSG00000010438 PRSS3 PRSS3 . . . 0.998 0.359 . 7 0.000107732 64976 7 0.000116694 59986 Uncertain_significance . 0 . 0.065 . . . . D 0.544 0.032 . . 37 . 0.726 . . 0.604 . . . 0.036 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.026 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.020 . . . . . 0.110 . 0.460 . LowAF 0.58 rs202002598 . . . . . . . . . . . . IV.93 . . III.62 -3.53 . 0.890000 . . . . . . 0.036 . . . 0 7.31e-05 0 0 0 4.484e-05 0.0002 0 0 0.0002 0.0001 0 0 0 0 0.0001 0 . . 0.216 . -0.533 -0.533000 . . 0.890000 . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.002 . 0.038 . 0.001 -0.533 -1.235 . . . rs202002598 rs202002598 1 1538 10 1/0 0,225,255 +. 9 33952786 T G - SNORD121A 33560 Small nucleolar RNA, C/D box 121A NR_003685.1 -1 91 0 substitution exon GRCh37 33952786 33952786 Chr9(GRCh37):g.33952786T>G 67 67 NR_003685.1:n.67A>C 1 transversion A C A>C 0.000 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . . . . . . . . . I.56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000238886 SNORD121A SNORD121A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.II . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 9 33952786 T G - UBAP2 14185 Ubiquitin associated protein 2 NM_018449.3 -1 4284 3360 NP_060919.3 Q5T6F2 substitution intron GRCh37 33952786 33952786 Chr9(GRCh37):g.33952786T>G 1056+497 1056+497 NM_018449.3:c.1056+497A>C p.? p.? 12 12 497 5' 78.7929 5.44927 0.804296 1.31616 78.7929 5.44927 0.804296 1.31616 0 transversion A C A>C 0.000 0.044 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . . . . . . . . . I.56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000238886 SNORD121A SNORD121A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.II . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs747512357 9 34834500 G A - FAM205BP 24504 Family with sequence similarity 205, member B, pseudogene NR_024481.1 -1 6130 0 substitution exon GRCh37 34834500 34834500 Chr9(GRCh37):g.34834500G>A 1894 1894 NR_024481.1:n.1894C>T 4 1550 3' 91.1912 9.76348 0.884217 6.0963 91.1912 9.76348 0.884217 6.0963 0 rs747512357 yes no Frequency 1 A 0.000000 0 0.000287 0.001696 0.000162 0.000000 0.001360 0.000044 0.000055 0.000000 0.000206 0.001696 52 26 4 0 16 1 4 0 1 180884 15326 24754 8542 11764 22822 72690 20136 4850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 52 26 4 0 16 1 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.063 1.013 235 PASS . . . . . . . . . . . . FAM205B:uc003zvp.4:exon4:c.C980T:p.S327L . . . 0.25536993 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 419.0 . . STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R632*|FAM205BP|Non-coding_transcript|NON_CODING|NR_024481|NR_024481.ex.4) . . . . . . . -0.9915 . . . . . . . . 1.663e-04 . . . 0.0014 0.0002 0 0 0 0.0001 0 0 0.0019 0.0002 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.42 0.65 182 ENSG00000257198 FAM205B FAM205BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs747512357 . . . . . . . . . . . . 6.746 . ENST00000455647 IV.41 IV.41 . 1.000000 Q63HN1 . . . . . . . . IV.41 0.0001 0.0001 0.0002 0 0.0011 0 3.445e-05 0 4.382e-05 0.0033 0.0011 0 0 0.0032 0 0.0001 0.0010 . . . . 0.754 0.754000 . . 1.000000 . . 1.0E-235 . . . . . . . . . 0.754 . . rs528197 rs528197 rs528197 rs528197 1 1538 10 1/0 0,180,255 +rs2988118 9 34835532 A G - FAM205BP 24504 Family with sequence similarity 205, member B, pseudogene NR_024481.1 -1 6130 0 substitution exon GRCh37 34835532 34835532 Chr9(GRCh37):g.34835532A>G 862 862 NR_024481.1:n.862T>C 4 518 3' 91.1912 9.76348 0.884217 6.0963 91.1912 9.76348 0.884217 6.0963 0 rs2988118 yes no Frequency 1 A 0.000000 0 0.000187 0.000309 0.000121 0.000468 0.000169 0.000088 0.000205 0.000051 0.000413 0.000468 34 5 3 4 2 2 15 1 2 181668 16166 24764 8550 11830 22798 73030 19684 4846 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 5 3 4 2 2 15 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.609 190 PASS . . . . . . . . . . . . . . . . 0.13605443 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 147.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S288P|FAM205BP|Non-coding_transcript|NON_CODING|NR_024481|NR_024481.ex.4) . . . . . . . 0.1555 . . . . . . . . 4.979e-04 . . . 0.0014 0.0005 0 0 0 0.0002 0 0.0005 0.0013 0.0005 0 0 0 0.0004 0 0.0005 . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . 0.58 0.82 182 ENSG00000257198 FAM205B FAM205BP . uc003zvp.4:c.-53T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2988118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.34 0.0005 0.0002 0.0001 0.0005 0.0002 0 0.0002 0.0003 8.773e-05 0.0001 0.0001 0 0 0 0.0003 6.718e-05 0.0010 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs2988118 rs2988118 rs2988118 rs2988118 1 1538 10 1/0 0,213,255 +rs181962423 9 34972352 G A - PHF24 29180 PHD finger protein 24 NM_001347982.1 1 5854 1206 NP_001334911.1 substitution missense exon GRCh37 34972352 34972352 Chr9(GRCh37):g.34972352G>A 388 388 NM_001347982.1:c.388G>A p.Asp130Asn p.Asp130Asn 3 10 3' 90.3059 XI.72 0.992038 13.7813 90.3059 XI.72 0.991027 13.4306 -0.000339705 rs181962423 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000800 0.000000 0.000000 0.000000 0.010100 0.001664 0.000459 0.001481 0.000103 0.000054 0.000540 0.002839 0.000312 0.001899 0.002839 452 11 49 1 1 16 354 8 12 271676 23952 33080 9732 18624 29656 124676 25636 6320 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 450 11 49 1 1 16 352 8 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4178 12644 16 2 18 0.00188635 0.000478469 0.00142158 0.00188635 0.000478469 0.00142158 171 COSM3699669 Large intestine 0.000450 2220 transition G A G>A 1.000 3.918 D Asp GAT 0.461 N Asn AAT 0.464 130 12 11 Zebrafish 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 213.16 22.75 Deleterious 0 III.62 255 PASS . 0.0023 0.01 . . 0.0008 0.0016 0.01 . . . . . . . . 0.56790125 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.818 . @ . . . . . 1 0.991 . . 81.0 . . . 0.0005 0.0014 0.0019 0.0005 0.0014 0.0019 . 0.6280 0.682 0.628 c . . . . . 1.511e-03 . . . 0.0006 0.0017 0.0017 0 0.0005 0.0026 0.0015 0.0006 0.0006 0.0015 0.0017 0 0.0005 0.0021 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.897 0.0016 . . . 0.4 0.36 182 ENSG00000122733 KIAA1045 PHF24 . . . 1.000 0.489 . 286 0.00440163 64976 279 0.00465109 59986 Uncertain_significance . 0 . 0.559 . . . . . . . . . 37 . 0.495 . . 0.628 . . . 0.440 0.513 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.540 . . 0 0 0 0 0 0 . 0.556 . . 0.398 . . . . . . 0 0.461 . . . . . 0.923 . 0.199 . HET 0.05 rs181962423 . . . . . . ID\x3dCOSM3699669\x3bOCCURENCE\x3d1(large_intestine) 0.0022893772893772895 0.0 0.013812154696132596 0.0 0.0 18.8848 5.71E-4 . V.73 V.73 . 0.030000 Q9UPV7 . . . 0.001422 . 0.717 . . V.73 0.0005 0.0016 0.0015 0.0001 0 0.0004 0.0028 0.0017 0.0005 0.0005 0.0018 0.0024 0 0.0006 0 0.0031 0.0031 . . 0.283 . 2.700 2.700000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.761 . 0.551 2.700 0.917 0.01 . . rs181962423 rs181962423 1 1538 10 1/0 0,255,255 +rs750564651 9 35750902 G A - GBA2 18986 Glucosidase, beta (bile acid) 2 NM_020944.2 -1 3611 2784 NP_065995.1 Q9HCG7 substitution upstream GRCh37 35750902 35750902 Chr9(GRCh37):g.35750902G>A -2201 -2201 NM_020944.2:c.-2201C>T p.? p.? 1 609471 -2560 5' 92.583 10.0326 0.995272 5.32971 92.583 10.0326 0.995272 5.32971 0 rs750564651 yes no Frequency 1 G 0.000000 0 0.000180 0.000042 0.000000 0.000000 0.000000 0.000000 0.000355 0.000039 0.000464 0.000355 50 1 0 0 0 0 45 1 3 277176 24016 34414 10152 18870 30782 126690 25790 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 1 0 0 0 0 45 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 1.000 5.451 255 PASS . . . . . . . . . . . . RGP1:uc011lpf.2:exon5:c.G403A:p.V135I RGP1:NM_001080496:exon5:c.G403A:p.V135I . . 0.46456692 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.607 . @ . . . . . 1 0.661 . . 127.0 . . . . . . . . . . 0.3497 0.476 0.350 c . . . . . 2.797e-04 . . . 0 8.88e-05 0 0 0 0.0002 0 0 0 0.0003 0 0 0 0.0006 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.756 @ . . . . . . ENSG00000107185 RGP1 RGP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.150 0.006 . . 37 . 0.465 . . 0.436 . . . 0.604 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.395 . . 0.307 . . . . . . 1 0.235 . . . . . 0.903 . 0.484 . HET 0.19 rs750564651 . . . . . . . . . . . . 18.3698 . . V.33 V.33 . 0.410000 . . . Name\x3ddgv8168n71 . . 0.953 . . V.33 0 0.0002 0 0 0 4.485e-05 0.0004 0.0005 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . 0.924 . 2.636 2.636000 . . 0.410000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.914 . 0.551 2.636 0.917 . . . . . 1 1538 10 1/0 0,252,255 +rs750564651 9 35750902 G A - RGP1 21965 RGP1 retrograde golgi transport homolog (S. cerevisiae) NM_001080496.2 1 1717 1176 NP_001073965.2 Q92546 substitution missense exon GRCh37 35750902 35750902 Chr9(GRCh37):g.35750902G>A 403 403 NM_001080496.2:c.403G>A p.Val135Ile p.Val135Ile 5 615742 66 3' 78.916 3.88344 0.032081 4.74611 78.916 3.88344 0.032081 4.42661 0 Reduced growth phenotype protein 1 rs750564651 yes no Frequency 1 G 0.000000 0 0.000180 0.000042 0.000000 0.000000 0.000000 0.000000 0.000355 0.000039 0.000464 0.000355 50 1 0 0 0 0 45 1 3 277176 24016 34414 10152 18870 30782 126690 25790 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 1 0 0 0 0 45 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 1.000 5.451 V Val GTC 0.240 I Ile ATC 0.481 135 11 9 Tetraodon 3 3 4 0 0 5.IX 5.II 84 111 29 C0 154.81 0.00 Tolerated 0.53 III.13 good 7.251E-1 0.1518 255 PASS . . . . . . . . . . . . RGP1:uc011lpf.2:exon5:c.G403A:p.V135I RGP1:NM_001080496:exon5:c.G403A:p.V135I . . 0.46456692 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.607 . @ . . . . . 1 0.661 . . 127.0 . . . . . . . . . . 0.3497 0.476 0.350 c . . . . . 2.797e-04 . . . 0 8.88e-05 0 0 0 0.0002 0 0 0 0.0003 0 0 0 0.0006 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.756 @ . . . . . . ENSG00000107185 RGP1 RGP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.150 0.006 . . 37 . 0.465 . . 0.436 . . . 0.604 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.395 . . 0.307 . . . . . . 1 0.235 . . . . . 0.903 . 0.484 . HET 0.19 rs750564651 . . . . . . . . . . . . 18.3698 . . V.33 V.33 . 0.410000 . . . Name\x3ddgv8168n71 . . 0.953 . . V.33 0 0.0002 0 0 0 4.485e-05 0.0004 0.0005 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . 0.924 . 2.636 2.636000 . . 0.410000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.914 . 0.551 2.636 0.917 . . . . . 1 1538 10 1/0 0,252,255 +rs151064858 9 35841612 G T - TMEM8B 21427 Transmembrane protein 8B NM_001042589.2 1 3448 1419 NP_001036054.1 A6NDV4 substitution 5'UTR GRCh37 35841612 35841612 Chr9(GRCh37):g.35841612G>T -227 -227 NM_001042589.2:c.-227G>T p.? p.? 6 616888 90 3' 86.2534 7.41178 0.882808 9.27917 86.2534 7.41178 0.882808 9.27917 0 Cryptic Acceptor Strongly Activated 35841627 4.32041 0.010503 68.9022 5.06924 0.026797 68.9022 rs151064858 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.000000 0.000000 0.007000 0.013000 0.005371 0.001720 0.007160 0.009934 0.000000 0.000000 0.008896 0.001145 0.005102 0.009934 166 15 6 3 0 0 133 4 5 30904 8722 838 302 1618 0 14950 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 166 15 6 3 0 0 133 4 5 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion G T G>T 1.000 1.577 255 PASS 0.002 0.01 0.01 . 0.01 . 0.0032 0.013 . 0.007 . . . . . . 0.4526316 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . I.68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.0032 . . . 0.7 0.85 182 ENSG00000137103 TMEM8B TMEM8B . . . . . . 433 0.006664 64976 416 0.00693495 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.38 rs151064858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.33 . . . . . . . . . 0.0017 0.0054 0.0072 0.0099 0 0.0011 0.0089 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151064858 rs151064858 1 1538 10 1/0 0,255,255 +rs79193527 9 36339696 G A - RNF38 18052 Ring finger protein 38 NM_022781.4 -1 5091 1548 NP_073618.3 Q9H0F5 substitution 3'UTR GRCh37 36339696 36339696 Chr9(GRCh37):g.36339696G>A *53 *53 NM_022781.4:c.*53C>T p.? p.? 12 612488 116 3' 93.3933 XI.59 0.995677 XI.26 93.3933 XI.59 0.995677 XI.26 0 rs79193527 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.004906 0.001718 0.003580 0.003311 0.000617 0.000000 0.008059 0.001145 0.007128 0.008059 152 15 3 1 1 0 121 4 7 30980 8730 838 302 1620 0 15014 3494 982 0.006579 0.000000 0.000000 0.000000 0.000000 0.000000 0.008264 0.000000 0.000000 1 0 0 0 0 0 1 0 0 150 15 3 1 1 0 119 4 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes 3151 1381 4532 31 3 34 0.0097423 0.00216763 0.00744634 0.0097423 0.00216763 0.00744634 92 transition C T C>T 0.551 -1.005 255 PASS . 0.0027 0.0028 . 0.01 . 0.0014 0.0014 . 0.006 . . . . . . 0.34615386 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . 0.0022 0.0074 0.0097 0.0022 0.0074 0.0097 . 0.9408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0014 . . . 0.81 0.63 182 ENSG00000137075 RNF38 RNF38 . . . . . . 548 0.00843388 64976 542 0.00903544 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79193527 . . . . . . . . . . . . . . . . . . . . . . . 0.007446 . . . . . . . . . . . . . . 0.0017 0.0049 0.0036 0.0033 0.0006 0.0011 0.0081 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs79193527 rs79193527 1 1538 10 1/0 0,255,255 +rs41303225 9 37428578 C T - GRHPR 4570 Glyoxylate reductase/hydroxypyruvate reductase NM_012203.1 1 1235 987 NP_036335.1 Q9UBQ7 substitution intron GRCh37 37428578 37428578 Chr9(GRCh37):g.37428578C>T 493+9 493+9 NM_012203.1:c.493+9C>T p.? p.? 5 5 604296 9 5' 86.4908 7.64824 0.907432 17.1043 86.4908 7.64824 0.907432 16.9039 0 rs41303225 yes no Frequency/1000G 2 C uncertain_significance,benign 0.000000 0 0.004992 0.000000 0.006100 0.001000 0.011900 0.008600 0.009107 0.001800 0.003460 0.003652 0.000000 0.007120 0.013166 0.015728 0.009828 0.015728 2474 43 119 37 0 219 1660 333 63 271648 23890 34398 10132 18806 30758 126082 21172 6410 0.000177 0.000000 0.000058 0.000000 0.000000 0.000195 0.000286 0.000094 0.000312 24 0 1 0 0 3 18 1 1 2426 43 117 37 0 213 1624 331 61 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8472 4395 12867 128 11 139 0.0148837 0.0024966 0.0106874 0.0148837 0.0024966 0.0106874 52 RCV000295367.1|RCV000245251.1 germline|germline clinical testing|clinical testing VUS|Benign 1|1 Primary hyperoxaluria|not specified transition C T C>T 0.000 0.205 255 PASS . 0.01 0.0028 0.0017 0.01 . 0.005 0.0086 0.001 0.012 0.0061 . . . . . 0.5504587 . . germline 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign//\%//\@Uncertain//\@significance Benign|Uncertain_significance RCV000245251.1|RCV000295367.1 not_specified|Primary_hyperoxaluria MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0020501:ORPHA416:17901006 2 . . . 109.0 . . INTRON(MODIFIER||||GRHPR|mRNA|CODING|NM_012203|) 0.0025 0.011 0.015 0.0025 0.011 0.015 . 0.1840 . . . . . . . . 9.714e-03 . . . 0.0018 0.0091 0.0032 0 0.0153 0.0138 0.0057 0.0077 0.0016 0.0096 0.0031 0 0.0142 0.0136 0.0130 0.0077 . . . . . . intronic UTR5 intronic . . . 0.0050 . . . 0.5 0.08 182 ENSG00000137106 GRHPR GRHPR . . . . . . 711 0.0109425 64976 686 0.011436 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41303225 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010687 . . . . . 0.0015 0.0092 0.0035 0.0037 0 0.0153 0.0134 0.0103 0.0071 0.0024 0.0087 0.0036 0.0033 0 0.0177 0.0117 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.015 rs41303225 rs41303225 rs41303225 rs41303225 1 1538 10 1/0 0,255,255 +rs56069880 9 37735698 G A - FRMPD1 29159 FERM and PDZ domain containing 1 NM_014907.2 1 4916 4737 NP_055722.2 Q5SYB0 substitution synonymous exon GRCh37 37735698 37735698 Chr9(GRCh37):g.37735698G>A 1368 1368 NM_014907.2:c.1368G>A p.Val456= p.Val456Val 13 616919 -34 5' 81.6684 8.92197 0.955705 5.64527 81.6684 8.92197 0.955705 4.87189 0 Cryptic Donor Strongly Activated 37735695 5.89048 0.058559 77.4164 7.30895 0.857025 81.7787 FERM domain rs56069880 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.002000 0.000000 0.006000 0.000000 0.004440 0.000666 0.001949 0.000099 0.000000 0.001594 0.005764 0.013230 0.004026 0.013230 1230 16 67 1 0 49 730 341 26 277028 24022 34370 10150 18864 30746 126644 25774 6458 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000388 0.000310 6 0 0 0 0 0 0 5 1 1218 16 67 1 0 49 730 331 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8559 4404 12963 41 2 43 0.00476744 0.000453926 0.00330617 0.00476744 0.000453926 0.00330617 106 transition G A G>A 1.000 2.546 V Val GTG 0.468 V Val GTA 0.114 456 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.006 0.002 . . FRMPD1:NM_014907:exon13:c.G1368A:p.V456V . . 0.41509435 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V456|FRMPD1|mRNA|CODING|NM_014907|NM_014907.ex.13) 0.0005 0.0033 0.0048 0.0005 0.0033 0.0048 . I.18 . . . . . . . . 4.538e-03 . . . 0.0008 0.0031 0.0010 0 0.0121 0.0044 0.0070 0.0015 0.0008 0.0045 0.0009 0 0.0110 0.0066 0.0101 0.0015 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.49 0.45 182 ENSG00000070601 FRMPD1 FRMPD1 . . . . . . 295 0.00454014 64976 288 0.00480112 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56069880 . . . . . . . . . . . . . . . . . . . . . . . 0.003306 . . . . V.95 0.0007 0.0045 0.0020 0.0001 0 0.0130 0.0059 0.0038 0.0016 0.0006 0.0041 0 0 0 0.0146 0.0044 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs56069880 rs56069880 rs56069880 rs56069880 1 1538 10 1/0 0,255,255 +rs4008243 9 37887862 A C - SLC25A51 23323 Solute carrier family 25, member 51 NM_033412.3 -1 1404 894 NP_219480.1 Q9H1U9 substitution missense exon GRCh37 37887862 37887862 Chr9(GRCh37):g.37887862A>C 686 686 NM_033412.3:c.686T>G p.Phe229Cys p.Phe229Cys 3 728 3' 92.439 8.25209 0.97871 7.64878 92.439 8.25209 0.97871 7.64878 0 Mitochondrial substrate/solute carrier rs4008243 yes no Frequency 1 A 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000292 0.000000 0.000292 1 0 0 0 0 0 0 1 0 30796 8670 832 302 1612 0 14976 3428 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes COSM6359779 Thyroid 0.001339 747 transversion T G T>G 1.000 2.465 F Phe TTT 0.454 C Cys TGT 0.448 229 15 12 C. elegans -2 -2 -4 0 II.75 5.II 5.V 132 55 205 C0 154.81 91.34 Deleterious 0.04 III.32 good 3.165E-1 0.04477 175 PASS . . . . . . . . . . . . . SLC25A51:NM_033412:exon3:c.T686G:p.F229C . . 0.10344828 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.414 . @ . . . . . 1 0.566 . . 87.0 . . . . . . . . . . 0.5441 0.490 0.544 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.788 . . exonic exonic exonic . . 0.413 @ . . . 0.46 0.3 182 ENSG00000122696 SLC25A51 SLC25A51 . . . 0.999 0.385 . . . . . . . Uncertain_significance . 0 . 0.434 . . . . D 0.732 0.079 . . 37 . 0.831 . . 0.810 . . . 0.646 0.503 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.885 . . 0 0 0 0 0 0 . 0.689 . . 0.677 . . . . . . 2 0.369 . . . . . 0.404 . 0.628 . LowAF 0.12 rs4008243 . . . . . . . . . . . . IX.47 . . IV.85 III.69 . 0.180000 Q9H1U9 . . Name\x3dnsv469814 . . 0.610 . . III.69 . . . . . . . . . 0 3.247e-05 0 0 0 0.0003 0 0 . . 0.465 . 0.795 0.795000 . . 0.180000 . . 1.0E-175 1.000 0.715 . 0.461 0.859 . 0.757 . 0.206 0.795 0.042 . rs4008243 rs4008243 rs4008243 rs4008243 1 1538 10 1/0 0,232,255 +rs753820626 9 39078720 G A - CNTNAP3 13834 Contactin associated protein-like 3 NM_033655.3 -1 5229 3867 NP_387504.2 Q9BZ76 substitution missense exon GRCh37 39078720 39078720 Chr9(GRCh37):g.39078720G>A 3640 3640 NM_033655.3:c.3640C>T p.Arg1214Trp p.Arg1214Trp 22 610517 -34 5' 85.464 6.99123 0.734933 8.26966 85.464 6.99123 0.734933 7.74157 0 rs753820626 yes no Frequency 1 G 0.000000 0 0.005605 0.004263 0.004459 0.004566 0.006152 0.001376 0.005447 0.016121 0.006813 0.016121 373 45 36 6 40 7 157 69 13 66546 10556 8074 1314 6502 5088 28824 4280 1908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 373 45 36 6 40 7 157 69 13 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4592383|COSM4592383|COSM4592383 Upper aerodigestive tract|Liver|Haematopoietic and lymphoid tissue 0.008039|0.000422|0.000283 1244|2371|3530 transition C T C>T 0.000 -0.440 R Arg CGG 0.207 W Trp TGG 1.000 1214 12 4 Dog -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 295.36 0.00 Tolerated 0.19 II.77 bad 1.233E-4 0.0001143 255 PASS . . . . . . . . . . . . . CNTNAP3:NM_033655:exon22:c.C3640T:p.R1214W . . 0.33333334 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.351 . @ . . . . . 1 0.445 . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1214W|CNTNAP3|mRNA|CODING|NM_033655|NM_033655.ex.22) . . . . . . . -1.0617 -1.142 -1.062 c . . . . . 1.446e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.910 . . exonic exonic exonic . . 0.054 @ . . . 0.3 0.45 182 ENSG00000106714 CNTNAP3 CNTNAP3 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.901 0.277 . . 37 . 0.797 . . 0.639 . . . 0.469 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.444 . . 0 0 0 0 0 0 . 0.188 . . 0.127 . . . . . . 0 0.260 . . . . . 0.134 . 0.207 . HET 0.18 rs753820626 . . . . . . . . . . . . IV.07 . . II.64 -2.82 . 0.220000 . . . . . . 0.114 . . . 0.0074 0.0050 0.0043 0.0038 0.0076 0.0036 0.0052 0.0068 0.0014 0.0026 0.0067 0.0058 0.0081 0.0007 0.0266 0.0059 0.0068 . . 0.246 . -0.335 -0.335000 . . 0.220000 . . 1.0E-255 0.837 0.300 . 0.104 0.001 . 0.165 . 0.149 -0.335 -1.560 . . . rs75327168 rs75327168 1 1538 10 1/0 0,255,255 +rs761849994 9 39078721 C A - CNTNAP3 13834 Contactin associated protein-like 3 NM_033655.3 -1 5229 3867 NP_387504.2 Q9BZ76 substitution synonymous exon GRCh37 39078721 39078721 Chr9(GRCh37):g.39078721C>A 3639 3639 NM_033655.3:c.3639G>T p.Ala1213= p.Ala1213Ala 22 610517 -35 5' 85.464 6.99123 0.734933 8.26966 85.464 6.99123 0.734933 7.68098 0 rs761849994 yes no Frequency 1 C 0.000000 0 0.005638 0.004288 0.004529 0.004651 0.005752 0.001398 0.005506 0.016212 0.007543 0.016212 371 45 36 6 37 7 157 69 14 65798 10494 7948 1290 6432 5006 28516 4256 1856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 371 45 36 6 37 7 157 69 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5094831 Thymus 0.006579 152 transversion G T G>T 0.000 -0.117 A Ala GCG 0.107 A Ala GCT 0.263 1213 236 PASS . . . . . . . . . . . . . CNTNAP3:NM_033655:exon22:c.G3639T:p.A1213A . . 0.26923078 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 26.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcT|A1213|CNTNAP3|mRNA|CODING|NM_033655|NM_033655.ex.22) . . . . . . . 0.1281 . . . . . . . . 7.211e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.39 182 ENSG00000106714 CNTNAP3 CNTNAP3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs761849994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0076 0.0050 0.0044 0.0038 0.0071 0.0036 0.0053 0.0070 0.0014 0.0026 0.0068 0.0058 0.0083 0.0007 0.0268 0.0059 0.0083 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs77009119 rs77009119 1 1538 10 1/0 0,255,255 +. 9 39078733 G A - CNTNAP3 13834 Contactin associated protein-like 3 NM_033655.3 -1 5229 3867 NP_387504.2 Q9BZ76 substitution synonymous exon GRCh37 39078733 39078733 Chr9(GRCh37):g.39078733G>A 3627 3627 NM_033655.3:c.3627C>T p.Ser1209= p.Ser1209Ser 22 610517 -47 5' 85.464 6.99123 0.734933 8.26966 85.464 6.99123 0.734933 8.28345 0 0.005327 0.004139 0.004197 0.004673 0.006020 0.001638 0.005350 0.013854 0.005985 0.013854 345 43 33 6 38 8 151 55 11 64762 10388 7862 1284 6312 4884 28224 3970 1838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 345 43 33 6 38 8 151 55 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5956705 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -0.763 S Ser TCC 0.220 S Ser TCT 0.185 1209 255 PASS . . . . . . . . . . . . . CNTNAP3:NM_033655:exon22:c.C3627T:p.S1209S . . 0.45454547 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 22.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1209|CNTNAP3|mRNA|CODING|NM_033655|NM_033655.ex.22) . . . . . . . -0.0996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.45 182 ENSG00000106714 CNTNAP3 CNTNAP3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0051 0.0043 0.0048 0.0076 0.0046 0.0054 0.0072 0.0016 0.0028 0.0056 0.0028 0.0040 0 0.0197 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78516261 rs78516261 1 1538 10 1/0 0,255,255 +. 9 39177438 G A - CNTNAP3 13834 Contactin associated protein-like 3 NM_033655.3 -1 5229 3867 NP_387504.2 Q9BZ76 substitution synonymous exon GRCh37 39177438 39177438 Chr9(GRCh37):g.39177438G>A 804 804 NM_033655.3:c.804C>T p.Asp268= p.Asp268Asp 6 610517 62 3' 82.4403 X.23 0.921394 14.2293 82.4403 X.23 0.921394 13.9938 0 Laminin G domain Concanavalin A-like lectin/glucanases superfamily 0.000008 0.000000 0.000030 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 2 0 1 0 0 1 0 0 0 245908 15302 33578 9850 17242 30780 111376 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 67 Exomes transition C T C>T 0.850 -0.924 D Asp GAC 0.539 D Asp GAT 0.461 268 191 PASS . . . . . . . . . . . . . CNTNAP3:NM_033655:exon6:c.C804T:p.D268D . . 0.1369863 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 219.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D268|CNTNAP3|mRNA|CODING|NM_033655|NM_033655.ex.6) . . . . . . . 0.3154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000106714 CNTNAP3 CNTNAP3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.133e-06 2.978e-05 0 0 0 0 0 3.249e-05 . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs11521860 9 39357339 A C - SPATA31A1 23394 SPATA31 subfamily A, member 1 NM_001085452.2 1 4259 4086 NP_001078921.2 substitution intron GRCh37 39357339 39357339 Chr9(GRCh37):g.39357339A>C 289+153 289+153 NM_001085452.2:c.289+153A>C p.? p.? 2 2 153 5' 91.9265 X.44 0.996809 7.43226 91.9265 X.44 0.996809 7.43226 0 rs11521860 no no 0 A 0.000000 0 0.001125 0.000000 0.003650 0.000000 0.005952 0.000000 0.002775 0.000000 0.004310 0.005952 8 0 1 0 1 0 5 0 1 7112 2740 274 38 168 0 1802 1858 232 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 1 0 1 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion A C A>C 0.035 1.174 199 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||SPATA31A1|mRNA|CODING|NM_001085452.2|) . . . . . . . 0.0353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000204849 SPATA31A2 SPATA31A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs11521860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0.0036 0 0.0060 0 0.0028 0.0043 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs11521860 rs11521860 rs11521860 rs11521860 1 1538 10 1/0 0,255,255 +. 9 39358929 G A - SPATA31A1 23394 SPATA31 subfamily A, member 1 NM_001085452.2 1 4259 4086 NP_001078921.2 substitution synonymous exon GRCh37 39358929 39358929 Chr9(GRCh37):g.39358929G>A 1209 1209 NM_001085452.2:c.1209G>A p.Ser403= p.Ser403Ser 4 859 3' 83.1675 X.46 0.923585 9.01638 83.1675 X.46 0.923585 9.01638 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6533 Exomes transition G A G>A 0.000 -0.117 S Ser TCG 0.056 S Ser TCA 0.148 403 236 PASS . . . . . . . . . . . ENSG00000204849:ENST00000377647:exon4:c.G1167A:p.S389S SPATA31A2:uc004abm.3:exon4:c.G1167A:p.S389S SPATA31A1:NM_001085452:exon4:c.G1209A:p.S403S . . 0.26666668 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 30.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S403|SPATA31A1|mRNA|CODING|NM_001085452.2|NM_001085452.2.ex.4) . . . . . . . -0.3159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204849 SPATA31A2 SPATA31A1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 39359762 C T - SPATA31A1 23394 SPATA31 subfamily A, member 1 NM_001085452.2 1 4259 4086 NP_001078921.2 substitution missense exon GRCh37 39359762 39359762 Chr9(GRCh37):g.39359762C>T 2042 2042 NM_001085452.2:c.2042C>T p.Pro681Leu p.Pro681Leu 4 1692 3' 83.1675 X.46 0.923585 9.01638 83.1675 X.46 0.923585 9.01638 0 COSM5428165 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -1.167 P Pro CCG 0.115 L Leu CTG 0.404 681 12 4 Olive baboon -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 244.82 0.00 Tolerated 1 III.32 176 PASS . . . . . . . . . . . ENSG00000204849:ENST00000377647:exon4:c.C2000T:p.P667L SPATA31A2:uc004abm.3:exon4:c.C2000T:p.P667L SPATA31A1:NM_001085452:exon4:c.C2042T:p.P681L . . 0.10526316 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.029 . @ . . . . . 1 0.013 . . 76.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P681L|SPATA31A1|mRNA|CODING|NM_001085452.2|NM_001085452.2.ex.4) . . . . . . . -1.8340 -1.891 -1.834 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.039 @ . . . . . . ENSG00000204849 SPATA31A2 SPATA31A1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.042 . . . . T 0.018 0.001 . . 37 . 0.021 . . 0.431 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 . . . . . . 0.098 . 0.084 . LowAF 1 . . . . . . . . . . . . . 4.1817 . ENST00000377647 I.95 -3.9 . 0.680000 Q5TZJ5 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.237 -1.237000 . . 0.680000 . . 1.0E-176 0.000 0.063 . 0.016 0.000 . 0.133 . 0.046 -1.237 -0.404 . rs2491540 rs2491540 rs2491540 rs2491540 1 1538 10 1/0 0,238,255 +rs62550849 9 39376827 T G - FAM74A1 32029 Family with sequence similarity 74, member A1 NR_026803.2 1 623 0 substitution intron GRCh37 39376827 39376827 Chr9(GRCh37):g.39376827T>G 547-10 547-10 NR_026803.2:n.547-10T>G p.? p.? 2 1 -10 3' 87.0479 9.27378 0.960944 5.86026 81.1144 VI.44 0.794275 1.73573 -0.164262 rs62550849 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 8 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1270 Genomes transversion T G T>G 0.098 0.367 255 PASS . . . . . . . . . . . . . . . . 0.7777778 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 9.0 . . INTRON(MODIFIER||||FAM74A1|Non-coding_transcript|NON_CODING|NR_026803.5|) . . . . . . . -0.2582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000215112 . FAM74A1 . dist\x3d14868\x3bdist\x3d66987 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62550849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs273295 rs273295 rs273295 rs273295 1 1538 10 1/0 0,255,255 +. (chr9:39886590 A/C) 9 39886590 A C Not on a known gene +rs77864731 (chr9:40293075 T/C) 9 40293075 T C Not on a known gene +rs77921801 (chr9:40293086 G/T) 9 40293086 G T Not on a known gene +. 9 40703510 G A - SPATA31A3 32003 SPATA31 subfamily A, member 3 NM_001083124.1 1 4223 4044 NP_001076593.1 Q5VYP0 substitution synonymous exon GRCh37 40703510 40703510 Chr9(GRCh37):g.40703510G>A 1167 1167 NM_001083124.1:c.1167G>A p.Ser389= p.Ser389Ser 4 859 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5426901 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.000 0.125 S Ser TCG 0.056 S Ser TCA 0.148 389 255 PASS . . . . . . . . . . . ENSG00000147926:ENST00000356699:exon4:c.G1167A:p.S389S SPATA31A3:uc010mmj.3:exon4:c.G1167A:p.S389S SPATA31A3:NM_001083124:exon4:c.G1167A:p.S389S . . 0.40384614 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S389|SPATA31A3|mRNA|CODING|NM_001083124|NM_001083124.ex.4) . . . . . . . -0.1002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000147926 SPATA31A3 SPATA31A3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs71223787 (chr9:41321624 C/T) 9 41321624 C T Not on a known gene +. (chr9:41322396 G/A) 9 41322396 G A Not on a known gene +. (chr9:41322454 C/G) 9 41322454 C G Not on a known gene +. (chr9:41324137 C/T) 9 41324137 C T Not on a known gene +. (chr9:41324616 G/A) 9 41324616 G A Not on a known gene +. (chr9:41424620 C/T) 9 41424620 C T Not on a known gene +. 9 41503160 T G - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41503160 41503160 Chr9(GRCh37):g.41503160T>G 432 432 NM_001113541.1:c.432T>G p.Asp144Glu p.Asp144Glu 4 124 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transversion T G T>G 0.000 -0.198 D Asp GAT 0.461 E Glu GAG 0.583 144 13 10 Cow 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Deleterious 0 III.46 bad 6.004E-5 0.0001151 255 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.T432G:p.D144E SPATA31A5:uc004abu.4:exon4:c.T432G:p.D144E . . . 0.44444445 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.128 . @ . . . . . 1 0.378 . . 27.0 . . . . . . . . . . -0.9571 -1.130 -0.957 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.100 @ . . . 0.37 0.34 182 ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.035 . . . . T 0.036 0.002 . . 37 . 0.094 . . 0.324 . . . 0.646 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.324 . . 0.386 . . . . . . 0 . . . . . . 0.042 . 0.232 . HET 0.35 . . . . . . . . . . . . . II.77 . ENST00000377621 I.82 -0.874 . 0.200000 Q5VU36 . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.203 -0.203000 . . 0.200000 . . 1.0E-255 0.000 0.063 . 0.095 0.035 . 0.105 . 0.283 -0.203 0.397 . rs12552679 rs12552679 rs12552679 rs12552679 1 1538 10 1/0 0,255,255 +. 9 41503416 C T - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41503416 41503416 Chr9(GRCh37):g.41503416C>T 688 688 NM_001113541.1:c.688C>T p.Arg230Trp p.Arg230Trp 4 380 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.000 -1.247 R Arg CGG 0.207 W Trp TGG 1.000 230 13 6 White-tuffed-ear marmoset -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.03 III.39 good 2.696E-1 0.5058 255 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.C688T:p.R230W SPATA31A5:uc004abu.4:exon4:c.C688T:p.R230W . . . 0.9137931 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.325 . @ . . . . . 1 0.063 . . 58.0 . . . . . . . . . . -1.5045 -1.666 -1.505 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.049 @ . . . 0.39 0.29 182 ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.086 . . . . T 0.056 0.003 . . 37 . 0.052 . . 0.408 . . . 0.666 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.119 . . 0.040 . . . . . . 0 . . . . . . 0.038 . 0.219 . HOM 0.06 . . . . . . . . . . . . . II.39 . ENST00000377621 I.56 -3.12 . 0.120000 Q5VU36 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.247 -1.247000 . . 0.120000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.022 . 0.006 -1.247 0.356 . rs3873866 rs3873866 rs3873866 rs3873866 1 1538 10 1/0 0,255,255 +. 9 41503895 G A - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution synonymous exon GRCh37 41503895 41503895 Chr9(GRCh37):g.41503895G>A 1167 1167 NM_001113541.1:c.1167G>A p.Ser389= p.Ser389Ser 4 859 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transition G A G>A 0.000 0.205 S Ser TCG 0.056 S Ser TCA 0.148 389 244 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.G1167A:p.S389S SPATA31A5:uc004abu.4:exon4:c.G1167A:p.S389S . . . 0.29268292 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.1156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000233788 SPATA31A5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 41505578 G C - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41505578 41505578 Chr9(GRCh37):g.41505578G>C 2850 2850 NM_001113541.1:c.2850G>C p.Glu950Asp p.Glu950Asp 4 2542 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transversion G C G>C 0.000 -1.005 E Glu GAG 0.583 D Asp GAC 0.539 950 13 9 Cow 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.09 III.32 good 4.528E-2 0.02691 203 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.G2850C:p.E950D SPATA31A5:uc004abu.4:exon4:c.G2850C:p.E950D . . . 0.16923077 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.165 . @ . . . . . 1 0.227 . . 65.0 . . . . . . . . . . -1.1773 -1.342 -1.177 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.044 @ . . . . . . ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.215 . . . . T 0.024 0.002 . . 37 . 0.070 . . 0.305 . . . 0.476 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.336 . . 0.272 . . . . . . 0 . . . . . . 0.002 . 0.047 . HET 0.24 . . . . . . . . . . . . . 0.2303 . ENST00000377621 I.76 -3.52 . 0.440000 Q5VU36 . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.013 -1.013000 . . 0.440000 . . 1.0E-203 0.000 0.063 . 0.108 0.050 . 0.057 . 0.283 -1.013 0.345 . . . . . 1 1538 10 1/0 0,251,255 +. 9 41505636 C T - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41505636 41505636 Chr9(GRCh37):g.41505636C>T 2908 2908 NM_001113541.1:c.2908C>T p.Leu970Phe p.Leu970Phe 4 2600 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transition C T C>T 0.000 -0.521 L Leu CTC 0.197 F Phe TTC 0.546 970 13 5 Northern white-cheeked gibbon 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.2 III.48 good 7.599E-1 0.2962 201 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.C2908T:p.L970F SPATA31A5:uc004abu.4:exon4:c.C2908T:p.L970F . . . 0.16216215 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.265 . @ . . . . . 1 0.223 . . 74.0 . . . . . . . . . . -0.6338 -0.905 -0.634 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.068 @ . . . . . . ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.074 . . 0.239 . . . 0.498 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.559 . . 0.524 . . . . . . 0 . . . . . . 0.105 . 0.029 . HET 0.36 . . . . . . . . . . . . . IV.22 . ENST00000377621 1.XII -2.09 . 0.060000 Q5VU36 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.531 -0.531000 . . 0.060000 . . 1.0E-201 0.001 0.137 . 0.074 0.311 . 0.044 . 0.053 -0.531 0.057 . . . . . 1 1538 10 1/0 0,245,255 +. 9 41505760 A G - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution missense exon GRCh37 41505760 41505760 Chr9(GRCh37):g.41505760A>G 3032 3032 NM_001113541.1:c.3032A>G p.Asn1011Ser p.Asn1011Ser 4 2724 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transition A G A>G 0.000 -0.117 N Asn AAT 0.464 S Ser AGT 0.149 1011 13 1 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 1 III.32 good 9.996E-1 0.01984 174 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.A3032G:p.N1011S SPATA31A5:uc004abu.4:exon4:c.A3032G:p.N1011S . . . 0.102564104 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.166 . @ . . . . . 1 0.002 . . 78.0 . . . . . . . . . . -1.8882 -1.848 -1.888 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.168 @ . . . 0.43 0.35 182 ENSG00000233788 SPATA31A5 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.220 . . . . T 0.015 0.001 . . 37 . 0.010 . . 0.451 . . . 0.006 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 . . . . . . 0.096 . 0.004 . LowAF 1 . . . . . . . . . . . . . 4.1333 . ENST00000377621 I.57 0.624 . 1.000000 Q5VU36 . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.100 -0.100000 . . 1.000000 . . 1.0E-174 0.004 0.165 . 0.132 0.051 . 0.108 . 0.089 -0.100 -1.800 . rs2259759 rs2259759 rs2259759 rs2259759 1 1538 10 1/0 0,237,255 +. 9 41506502 C T - SPATA31A5 32005 SPATA31 subfamily A, member 5 NM_001113541.1 1 4226 4044 NP_001107013.1 Q5VU36 substitution synonymous exon GRCh37 41506502 41506502 Chr9(GRCh37):g.41506502C>T 3774 3774 NM_001113541.1:c.3774C>T p.His1258= p.His1258His 4 3466 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 transition C T C>T 0.012 0.125 H His CAC 0.587 H His CAT 0.413 1258 244 PASS . . . . . . . . . . . ENSG00000233788:ENST00000377621:exon4:c.C3774T:p.H1258H SPATA31A5:uc004abu.4:exon4:c.C3774T:p.H1258H . . . 0.2857143 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.2309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.3 182 ENSG00000233788 SPATA31A5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs2762364 rs2762364 rs2762364 rs2762364 1 1538 10 1/0 0,241,255 +rs7047882 9 42019010 A G - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019010 42019010 Chr9(GRCh37):g.42019010A>G 575 575 NR_003670.1:n.575T>C 1 -83 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs7047882 no no 0 0.000000 0 transition T C T>C 0.217 0.125 255 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.T400C:p.W134R . . . 0.6551724 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . . . . . . . . . -0.0068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.77 0.34 182 ENSG00000204837 KGFLP2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7047882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7047882 rs7047882 rs7047882 rs7047882 1 1538 10 1/0 0,255,255 +. 9 42019113 G A - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019113 42019113 Chr9(GRCh37):g.42019113G>A 472 472 NR_003670.1:n.472C>T 1 -186 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 transition C T C>T 0.035 0.205 255 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.C297T:p.Y99Y . . . 0.3409091 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 44.0 . . . . . . . . . . -0.1226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.45 0.19 182 ENSG00000204837 KGFLP2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3206882 rs3206882 rs3206882 rs3206882 1 1538 10 1/0 0,255,255 +rs62536437 9 42019142 G C - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019142 42019142 Chr9(GRCh37):g.42019142G>C 443 443 NR_003670.1:n.443C>G 1 -215 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs62536437 no no 0 0.000000 0 transversion C G C>G 0.035 0.205 255 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.C268G:p.R90G . . . 0.5416667 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . . . . . . . . . -0.1192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.76 0.22 182 ENSG00000204837 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62536437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3123357 rs3123357 rs3123357 rs3123357 1 1538 10 1/0 0,255,255 +. 9 42019302 A C - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019302 42019302 Chr9(GRCh37):g.42019302A>C 283 283 NR_003670.1:n.283T>G 1 -375 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion T G T>G 0.031 -1.570 255 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.T108G:p.G36G . . . 0.63461536 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 52.0 . . . . . . . . . . -0.5662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.65 0.27 182 ENSG00000204837 KGFLP2 KGFLP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7044437 rs7044437 rs7044437 rs7044437 1 1538 10 1/0 0,255,255 +. 9 42019327 G T - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019327 42019327 Chr9(GRCh37):g.42019327G>T 258 258 NR_003670.1:n.258C>A 1 -400 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 transversion C A C>A 0.228 0.205 214 PASS . . . . . . . . . . . . KGFLP2:uc011lqu.1:exon1:c.C83A:p.A28E . . . 0.2 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.0182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000204837 KGFLP2 KGFLP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 42019384 C A - FGF7P3 26671 Fibroblast growth factor 7 pseudogene 3 NR_003670.1 -1 4707 0 substitution exon GRCh37 42019384 42019384 Chr9(GRCh37):g.42019384C>A 201 201 NR_003670.1:n.201G>T 1 -457 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 Cryptic Acceptor Strongly Activated 42019379 0.047145 0.798839 0.56728 transversion G T G>T 0.280 0.205 190 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 51.0 . . . . . . . . . . 0.1020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.62 0.27 182 ENSG00000204837 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs10907974 rs10907974 rs10907974 rs10907974 1 1538 10 1/0 0,255,255 +. 9 42372165 G A - ANKRD20A2 31979 Ankyrin repeat domain 20 family, member A2 NM_001012421.1 1 3511 2472 NP_001012421.1 Q5SQ80 substitution intron GRCh37 42372165 42372165 Chr9(GRCh37):g.42372165G>A 319-37 319-37 NM_001012421.1:c.319-37G>A p.? p.? 3 2 -37 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 New Acceptor Site 42372167 6.73286 0.166964 79.906 transition G A G>A 0.000 -1.167 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.3829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000183148 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs4929513 9 42372195 C T - ANKRD20A2 31979 Ankyrin repeat domain 20 family, member A2 NM_001012421.1 1 3511 2472 NP_001012421.1 Q5SQ80 substitution intron GRCh37 42372195 42372195 Chr9(GRCh37):g.42372195C>T 319-7 319-7 NM_001012421.1:c.319-7C>T p.? p.? 3 2 -7 3' 72.3891 2.15552 0.001267 0 73.8997 2.84267 0.001839 0 0.263704 Cryptic Acceptor Strongly Activated 42372202 2.15552 0.001267 72.3891 2.84267 0.001839 73.8997 rs4929513 no no 0 C 0.000000 0 0.000574 0.003256 0.000000 0.000000 0.000398 0.000000 0.000000 0.000000 0.000000 0.003256 12 11 0 0 1 0 0 0 0 20918 3378 2952 436 2510 3204 7362 518 558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 11 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.044 242 PASS . . . . . . . . . . . . . . . . 0.28333333 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.0730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.34 182 ENSG00000183148 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4929513 . . . . . . . . . . . . . . . . . . . . 0 0.046 . . . . . . . 0 5.427e-05 0 0 0.0004 0 0 0 0 0.0104 0.0044 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs4929513 rs4929513 rs4929513 rs4929513 1 1538 10 1/0 0,255,255 +rs4116568 9 42372265 C T - ANKRD20A2 31979 Ankyrin repeat domain 20 family, member A2 NM_001012421.1 1 3511 2472 NP_001012421.1 Q5SQ80 substitution missense exon GRCh37 42372265 42372265 Chr9(GRCh37):g.42372265C>T 382 382 NM_001012421.1:c.382C>T p.Leu128Phe p.Leu128Phe 3 64 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Cryptic Acceptor Strongly Activated 42372271 2.04861 6.7e-05 67.0523 3.54248 9.5e-05 69.1556 Ankyrin repeat Ankyrin repeat-containing domain rs4116568 no no 0 C 0.000000 0 0.000635 0.003489 0.000347 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003489 14 13 1 0 0 0 0 0 0 22054 3726 2886 500 2648 3122 7920 640 612 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 13 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6374167 Thyroid 0.001339 747 transition C T C>T 0.000 -1.247 L Leu CTT 0.129 F Phe TTT 0.454 128 12 10 Zebrafish 1 0 0 0 0 4.IX 5.II 111 132 22 C0 30.92 21.28 Deleterious 0.03 II.68 good 8.733E-1 0.3506 255 PASS . . . . . . . . . . . ENSG00000183148:ENST00000377601:exon3:c.C382T:p.L128F . . . . 0.3292683 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.371 . @ . . . . . 1 0.622 . . 82.0 . . . . . . . . . . -1.3682 -1.613 -1.368 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.683 . . exonic exonic exonic . . 0.031 @ . . . 0.27 0.22 182 ENSG00000183148 ANKRD20A3 . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.391 0.017 . . 37 . 0.542 . . 0.415 . . . 0.502 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.534 . . 0 0 0 0 0 0 . 0.409 . . 0.354 . . . . . . 0 0.379 . . . . . 0.154 . 0.044 . HET 0.09 rs4116568 . . . . . . . . . . . . V.91 . ENST00000377601 II.31 -4.62 . 0.140000 . . . . . . 0.040 . . . 0 5.243e-05 0.0004 0 0 0 0 0 0 0.0101 0.0044 0 0 0 0 0 0 . . 0.246 . -1.885 -1.885000 . . 0.140000 . . 1.0E-255 0.001 0.137 . 0.043 0.007 . 0.070 . 0.009 -1.885 -0.974 . rs28600702 rs28600702 rs4116568 rs28600702 1 1538 10 1/0 0,255,255 +. 9 42372308 A G - ANKRD20A2 31979 Ankyrin repeat domain 20 family, member A2 NM_001012421.1 1 3511 2472 NP_001012421.1 Q5SQ80 substitution missense exon GRCh37 42372308 42372308 Chr9(GRCh37):g.42372308A>G 425 425 NM_001012421.1:c.425A>G p.Tyr142Cys p.Tyr142Cys 3 -68 5' 72.3493 7.98261 0.586567 3.09002 72.3493 7.98261 0.586567 3.47884 0 Cryptic Donor Strongly Activated 42372303 3.6e-05 48.0325 2.17887 0.020206 60.184 Ankyrin repeat Ankyrin repeat-containing domain 0.000216 0.000000 0.000000 0.000000 0.000000 0.001077 0.000163 0.000000 0.000000 0.001077 4 0 0 0 0 3 1 0 0 18550 3500 2608 376 2174 2786 6144 450 512 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -2.700 Y Tyr TAT 0.438 C Cys TGT 0.448 142 12 5 American pika -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 234.48 0.00 Tolerated 0.16 II.68 good 5.39E-1 0.5624 204 PASS . . . . . . . . . . . ENSG00000183148:ENST00000377601:exon3:c.A425G:p.Y142C . . . . 0.17142858 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.148 . @ . . . . . 1 0.219 . . 70.0 . . . . . . . . . . -1.4725 -1.660 -1.473 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.638 . . exonic exonic exonic . . 0.031 @ . . . . . . ENSG00000183148 ANKRD20A3 . . . . 0.002 0.090 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.093 0.004 . . 37 . 0.478 . . 0.178 . . . 0.255 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.857 . . 0 0 0 0 0 0 . 0.112 . . 0.063 . . . . . . 0 0.265 . . . . . 0.093 . 0.084 . HET 0.03 . . . . . . . . . . . . . 4.0637 . ENST00000377601 II.31 -4.63 . 0.160000 . . . . . . 0.021 . . . 0 0.0003 0 0 0 0 0.0002 0 0.0011 0 0 0 0 0 0 0 0 . . 0.246 . -2.646 -2.646000 . . 0.160000 . . 1.0E-204 0.000 0.063 . 0.043 0.001 . 0.010 . 0.061 -2.646 -0.531 . . . . . 1 1538 10 1/0 0,248,255 +. (chr9:42419052 T/G) 9 42419052 T G Not on a known gene +. (chr9:42419088 G/A) 9 42419088 G A Not on a known gene +. (chr9:42419110 G/A) 9 42419110 G A Not on a known gene +rs7874545 (chr9:42671895 A/G) 9 42671895 A G No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42671960 C/G) 9 42671960 C G No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42671981 G/GT) 9 42671981 G GT No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42673586 G/A) 9 42673586 G A No Alamut gene - other known genes: CBWD7 CBWD7 +rs879948307 (chr9:42681193 A/G) 9 42681193 A G No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42681216 G/C) 9 42681216 G C No Alamut gene - other known genes: CBWD7 CBWD7 +rs12555584 (chr9:42681249 G/A) 9 42681249 G A No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42681269 TAA/T) 9 42681269 TAA T No Alamut gene - other known genes: CBWD7 CBWD7 +rs62553057 (chr9:42681362 C/A) 9 42681362 C A No Alamut gene - other known genes: CBWD7 CBWD7 +rs3000522 (chr9:42681376 G/A) 9 42681376 G A No Alamut gene - other known genes: CBWD7 CBWD7 +rs3000521 (chr9:42681381 G/A) 9 42681381 G A No Alamut gene - other known genes: CBWD7 CBWD7 +rs12375938 (chr9:42681387 A/C) 9 42681387 A C No Alamut gene - other known genes: CBWD7 CBWD7 +rs1756497 (chr9:42704030 G/T) 9 42704030 G T No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42712595 G/T) 9 42712595 G T No Alamut gene - other known genes: CBWD7 CBWD7 +rs879970493 (chr9:42712743 G/A) 9 42712743 G A No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42712776 A/G) 9 42712776 A G No Alamut gene - other known genes: CBWD7 CBWD7 +. (chr9:42714027 C/T) 9 42714027 C T No Alamut gene - other known genes: CBWD7 CBWD7 +rs62550305 (chr9:42718036 A/G) 9 42718036 A G Not on a known gene +rs9776578 (chr9:42718072 C/A) 9 42718072 C A Not on a known gene +. (chr9:42718200 G/A) 9 42718200 G A Not on a known gene +rs4929761 (chr9:42718314 T/C) 9 42718314 T C Not on a known gene +rs4929762 (chr9:42718394 C/G) 9 42718394 C G Not on a known gene +. (chr9:42718563 C/T) 9 42718563 C T Not on a known gene +. (chr9:42718806 G/A) 9 42718806 G A Not on a known gene +rs62550309 (chr9:42718892 G/C) 9 42718892 G C Not on a known gene +rs62550310 (chr9:42718904 G/C) 9 42718904 G C Not on a known gene +. (chr9:42719232 C/T) 9 42719232 C T Not on a known gene +. (chr9:42751726 T/C) 9 42751726 T C Not on a known gene +. (chr9:42751854 A/G) 9 42751854 A G Not on a known gene +rs200221725 (chr9:42751972 C/T) 9 42751972 C T Not on a known gene +. (chr9:42751987 C/T) 9 42751987 C T Not on a known gene +. (chr9:42751988 C/T) 9 42751988 C T Not on a known gene +. (chr9:42752014 A/C) 9 42752014 A C Not on a known gene +rs62554164 (chr9:42752064 T/C) 9 42752064 T C Not on a known gene +. (chr9:42808981 T/G) 9 42808981 T G Not on a known gene +rs2921282 (chr9:42808999 T/G) 9 42808999 T G Not on a known gene +. (chr9:43075476 C/G) 9 43075476 C G Not on a known gene +. (chr9:43082823 T/C) 9 43082823 T C Not on a known gene +. (chr9:43082850 A/C) 9 43082850 A C Not on a known gene +. (chr9:43082853 A/T) 9 43082853 A T Not on a known gene +. 9 43091410 T C - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091410 43091410 Chr9(GRCh37):g.43091410T>C 2414 2414 NM_001012419.2:c.2414A>G p.Glu805Gly p.Glu805Gly 15 917 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 COSM4386318|COSM4386318 Large intestine|Haematopoietic and lymphoid tissue 0.000450|0.000283 2220|3530 transition A G A>G 1.000 1.577 E Glu GAA 0.417 G Gly GGA 0.246 805 12 8 Tetraodon -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 253.47 0.00 Deleterious 0.03 II.67 210 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.A2414G:p.E805G . . . . 0.1923077 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 26.0 . . . . . . . . . . 0.0811 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 . . . . . . . . . . . . . VII.33 . ENST00000254835 I.95 I.95 . 0.030000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.893 0.893000 . . 0.030000 . . 1.0E-210 . . . . . . . . . 0.893 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43091467 A G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091467 43091467 Chr9(GRCh37):g.43091467A>G 2357 2357 NM_001012419.2:c.2357T>C p.Met786Thr p.Met786Thr 15 860 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 transition T C T>C 0.236 0.448 M Met ATG 1.000 T Thr ACG 0.116 786 12 3 Northern white-cheeked gibbon -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 353.86 0.00 Tolerated 0.78 II.67 244 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.T2357C:p.M786T . . . . 0.29268292 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 41.0 . . . . . . . . . . -1.0382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.32 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . IV.48 . ENST00000254835 I.95 0.728 . 0.190000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.043 0.043000 . . 0.190000 . . 1.0000000000000001E-244 . . . . . . . . . 0.043 . . . . rs79236439 rs79236439 1 1538 10 1/0 0,255,255 +rs62552310 9 43091509 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091509 43091509 Chr9(GRCh37):g.43091509C>T 2315 2315 NM_001012419.2:c.2315G>A p.Gly772Glu p.Gly772Glu 15 818 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs62552310 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.764 0.448 G Gly GGA 0.246 E Glu GAA 0.417 772 12 3 Northern white-cheeked gibbon -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 1 II.67 196 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.G2315A:p.G772E . . . . 0.14925373 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 67.0 . . . . . . . . . . -1.0673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.24 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.85 rs62552310 . . . . . . . . . . . . IV.02 1.0 ENST00000254835 I.95 0.736 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.046 0.046000 . . 1.000000 . . 1.0E-196 . . . . . . . . . 0.046 . . rs62552310 rs62552310 rs62552310 rs62552310 1 1538 10 1/0 0,248,255 +. 9 43091545 A G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091545 43091545 Chr9(GRCh37):g.43091545A>G 2279 2279 NM_001012419.2:c.2279T>C p.Ile760Thr p.Ile760Thr 15 782 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 Cryptic Donor Strongly Activated 43091544 0.298058 0.040953 66.3502 1.81225 0.130831 65.9471 COSM6375110 Thyroid 0.001339 747 transition T C T>C 0.921 -0.037 I Ile ATA 0.163 T Thr ACA 0.280 760 12 3 Northern white-cheeked gibbon -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.47 II.67 253 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.T2279C:p.I760T . . . . 0.31578946 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 76.0 . . . . . . . . . . -1.1539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.28 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.47 . . . . . . . . . . . . . V.16 . ENST00000254835 I.95 -0.134 . 0.990000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.147 0.147000 . . 0.990000 . . 1.0E-253 . . . . . . . . . 0.147 . . rs2207456 rs2207456 rs2207456 rs2207456 1 1538 10 1/0 0,255,255 +. 9 43091789 G A - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091789 43091789 Chr9(GRCh37):g.43091789G>A 2035 2035 NM_001012419.2:c.2035C>T p.Arg679Cys p.Arg679Cys 15 538 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 COSM6391183 Thyroid 0.001339 747 transition C T C>T 0.118 1.900 R Arg CGT 0.082 C Cys TGT 0.448 679 12 4 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0.01 II.67 201 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.C2035T:p.R679C . . . . 0.1641791 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 67.0 . . . . . . . . . . -0.5034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.26 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.08 . . . . . . . . . . . . . IX.22 . ENST00000254835 I.95 I.95 . 0.040000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.081 1.081000 . . 0.040000 . . 1.0E-201 . . . . . . . . . 1.081 . . rs4055530 rs4055530 rs4055530 rs4055530 1 1538 10 1/0 0,249,255 +. 9 43091807 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43091807 43091807 Chr9(GRCh37):g.43091807C>T 2017 2017 NM_001012419.2:c.2017G>A p.Ala673Thr p.Ala673Thr 15 520 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 COSM5427930 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.354 0.448 A Ala GCC 0.403 T Thr ACC 0.361 673 12 3 Dog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.39 II.67 215 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon15:c.G2017A:p.A673T . . . . 0.2 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 55.0 . . . . . . . . . . -1.8657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.27 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.45 . . . . . . . . . . . . . V.03 . ENST00000254835 I.95 0.709 . 0.880000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.025 0.025000 . . 0.880000 . . 1.0E-215 . . . . . . . . . 0.025 . . rs2982939 rs2982939 rs2982939 rs2982939 1 1538 10 1/0 0,255,255 +. 9 43093547 C G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43093547 43093547 Chr9(GRCh37):g.43093547C>G 1447 1447 NM_001012419.2:c.1447G>C p.Val483Leu p.Val483Leu 14 -51 5' 78.8877 6.14623 0.981474 0.492367 78.8877 6.14623 0.981474 0.589184 0 Cryptic Acceptor Strongly Activated 43093541 0.424369 0.001201 66.0635 1.08794 0.02234 69.8473 COSM5424138|COSM5424138 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.001133 747|3530 transversion G C G>C 0.000 0.125 V Val GTT 0.178 L Leu CTT 0.129 483 12 4 Zebrafish 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.73 II.67 242 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon14:c.G1447C:p.V483L . . . . 0.2857143 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . -1.3476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.33 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . 4.0875 . ENST00000254835 I.95 0.981 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.134 0.134000 . . 1.000000 . . 1.0E-242 . . . . . . . . . 0.134 . . rs2982946 rs2982946 rs2982946 rs2982946 1 1538 10 1/0 0,255,255 +. 9 43124348 G T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43124348 43124348 Chr9(GRCh37):g.43124348G>T 682 682 NM_001012419.2:c.682C>A p.Gln228Lys p.Gln228Lys 5 -56 5' 87.5573 9.72159 0.994436 3.11081 87.5573 9.72159 0.994436 2.41429 0 Ankyrin repeat-containing domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3685778 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 0.000 -0.602 Q Gln CAA 0.256 K Lys AAA 0.425 228 12 4 Frog 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 243.92 0.00 Tolerated 1 II.67 255 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.C682A:p.Q228K . . . . 0.35 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 20.0 . . . . . . . . . . -1.1704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.19 . . . . . . . . . . . . . II.94 0.1875 ENST00000254835 I.22 -2.44 . 1.000000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -1.078 -1.078000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.078 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43124351 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43124351 43124351 Chr9(GRCh37):g.43124351C>T 679 679 NM_001012419.2:c.679G>A p.Ala227Thr p.Ala227Thr 5 -59 5' 87.5573 9.72159 0.994436 3.11081 87.5573 9.72159 0.994436 2.68385 0 Cryptic Acceptor Strongly Activated 43124344 1.55131 0.075012 77.5156 1.73001 0.085972 77.5156 Ankyrin repeat Ankyrin repeat-containing domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 50719 Exomes transition G A G>A 0.000 -2.539 A Ala GCT 0.263 T Thr ACT 0.243 227 12 2 Chimp 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 272.33 0.00 Tolerated 0.6 II.67 255 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.G679A:p.A227T . . . . 0.36842105 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 19.0 . . . . . . . . . . -1.6675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . 0.6302 . ENST00000254835 I.22 -2.44 . 0.760000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -2.490 -2.490000 . . 0.760000 . . 1.0E-255 . . . . . . . . . -2.490 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43124408 A G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43124408 43124408 Chr9(GRCh37):g.43124408A>G 622 622 NM_001012419.2:c.622T>C p.Tyr208His p.Tyr208His 5 23 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.98568 2.91823 0 Ankyrin repeat Ankyrin repeat-containing domain transition T C T>C 0.043 -1.005 Y Tyr TAC 0.562 H His CAC 0.587 208 12 3 Frog 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 275.98 0.00 Tolerated 0.55 II.67 250 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.T622C:p.Y208H . . . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 22.0 . . . . . . . . . . -1.7730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.57 . . . . . . . . . . . . . 2.0938 . ENST00000254835 I.22 -2.44 . 0.530000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.558 -1.558000 . . 0.530000 . . 1.0E-250 . . . . . . . . . -1.558 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43124411 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43124411 43124411 Chr9(GRCh37):g.43124411C>T 619 619 NM_001012419.2:c.619G>A p.Val207Ile p.Val207Ile 5 20 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.986758 2.1248 0.000364554 Ankyrin repeat Ankyrin repeat-containing domain COSM2155400 Central nervous system 0.000424 2361 transition G A G>A 0.500 0.044 V Val GTA 0.114 I Ile ATA 0.163 207 12 2 Chimp 3 3 4 0 0 5.IX 5.II 84 111 29 C0 273.19 0.00 Tolerated 0.41 II.67 255 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.G619A:p.V207I . . . . 0.3478261 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 23.0 . . . . . . . . . . -0.9702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.38 . . . . . . . ID\x3dCOSM2155400\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . III.85 . ENST00000254835 I.22 0.172 . 0.430000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.139 -0.139000 . . 0.430000 . . 1.0E-255 . . . . . . . . . -0.139 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43124424 A G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution synonymous exon GRCh37 43124424 43124424 Chr9(GRCh37):g.43124424A>G 606 606 NM_001012419.2:c.606T>C p.Ala202= p.Ala202Ala 5 7 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.985908 2.75053 7.71041e-05 Ankyrin repeat Ankyrin repeat-containing domain transition T C T>C 0.791 -1.489 A Ala GCT 0.263 A Ala GCC 0.403 202 233 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon5:c.T606C:p.A202A . . . . 0.2631579 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.7591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs746425063 9 43129534 T C - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43129534 43129534 Chr9(GRCh37):g.43129534T>C 425 425 NM_001012419.2:c.425A>G p.Tyr142Cys p.Tyr142Cys 3 -68 5' 72.3493 7.98261 0.586567 3.09002 72.3493 7.98261 0.586567 3.47884 0 Cryptic Donor Strongly Activated 43129539 3.6e-05 48.0325 2.17887 0.020206 60.184 Ankyrin repeat Ankyrin repeat-containing domain rs746425063 yes no Frequency 1 T 0.000000 0 0.004768 0.004167 0.004098 0.000000 0.000000 0.009709 0.004386 0.000000 0.000000 0.009709 8 1 1 0 0 4 2 0 0 1678 240 244 26 120 412 456 112 68 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 0 0 4 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.893 Y Tyr TAT 0.438 C Cys TGT 0.448 142 12 5 American pika -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 234.48 0.00 Tolerated 0.16 II.67 195 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon3:c.A425G:p.Y142C . . . . 0.14666666 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 75.0 . . . . . . . . . . -1.6862 . . . . . . . . 1.733e-03 . . . . 0 . . . . . . . 0 . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.07 rs746425063 . . . . . . . . . . . . 4.0562 . ENST00000254835 I.95 -3.91 . 0.150000 . . . . . . . . . . 0 0.0055 0.0044 0 0 0 0 0 0.0097 0.0043 0.0039 0 0 0 0 0.0058 0 . . . . -1.683 -1.683000 . . 0.150000 . . 9.999999999999999E-196 . . . . . . . . . -1.683 . . . . . . 1 1538 10 1/0 0,243,255 +rs4055461 9 43129563 G A - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution synonymous exon GRCh37 43129563 43129563 Chr9(GRCh37):g.43129563G>A 396 396 NM_001012419.2:c.396C>T p.Tyr132= p.Tyr132Tyr 3 78 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Ankyrin repeat Ankyrin repeat-containing domain rs4055461 no no 0 G 0.000000 0 0.000306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000808 0.000000 0.000000 0.000808 1 0 0 0 0 0 1 0 0 3266 798 106 36 74 0 1238 874 140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 71 Genomes transition C T C>T 0.008 -3.023 Y Tyr TAC 0.562 Y Tyr TAT 0.438 132 181 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon3:c.C396T:p.Y132Y . . . . 0.11494253 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.8874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.32 182 ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs4055461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4055461 rs4055461 rs4055461 rs4055461 1 1538 10 1/0 0,233,255 +. 9 43129589 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution missense exon GRCh37 43129589 43129589 Chr9(GRCh37):g.43129589C>T 370 370 NM_001012419.2:c.370G>A p.Ala124Thr p.Ala124Thr 3 52 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Ankyrin repeat Ankyrin repeat-containing domain 0.000258 0.000579 0.000000 0.000000 0.000000 0.000000 0.000339 0.000000 0.000000 0.000579 2 1 0 0 0 0 1 0 0 7740 1728 418 80 270 492 2948 1530 274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6407201 Thyroid 0.001339 747 transition G A G>A 1.000 3.111 A Ala GCC 0.403 T Thr ACC 0.361 124 12 12 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C55 0.00 58.02 Deleterious 0 II.67 192 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon3:c.G370A:p.A124T . . . . 0.13953489 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 86.0 . . . . . . . . . . 0.1895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.03 . . . . . . . . . . . . . IX.22 . ENST00000254835 I.95 I.95 . 0.030000 . . . . . . . . . . 0 0 0 0 0 . 0 0 0 0.0006 0.0003 0 0 0 0 0.0003 0 . . . . 1.081 1.081000 . . 0.030000 . . 9.999999999999999E-193 . . . . . . . . . 1.081 . . . . . . 1 1538 10 1/0 0,236,255 +. 9 43129649 G A - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129649 43129649 Chr9(GRCh37):g.43129649G>A 319-9 319-9 NM_001012419.2:c.319-9C>T p.? p.? 3 2 -9 3' 72.3891 2.15552 0.001267 0 75.1009 2.01764 0.001842 0 0.142442 Cryptic Acceptor Weakly Activated 43129640 2.15552 0.001267 72.3891 2.01764 0.001842 75.1009 transition C T C>T 0.000 -0.117 203 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.4113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +. 9 43129659 G T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129659 43129659 Chr9(GRCh37):g.43129659G>T 319-19 319-19 NM_001012419.2:c.319-19C>A p.? p.? 3 2 -19 3' 72.3891 2.15552 0.001267 0 72.3891 1.44982 0.000856 0 -0.21726 transversion C A C>A 0.047 0.448 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . 0.3006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 9 43129663 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129663 43129663 Chr9(GRCh37):g.43129663C>T 319-23 319-23 NM_001012419.2:c.319-23G>A p.? p.? 3 2 -23 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 0.000274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000559 0.000000 0.000000 0.000559 4 0 0 0 0 0 4 0 0 14574 4058 264 138 528 0 7158 1960 468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 27 Genomes transition G A G>A 0.000 -0.763 199 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.6621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 9 43129674 T G - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129674 43129674 Chr9(GRCh37):g.43129674T>G 319-34 319-34 NM_001012419.2:c.319-34A>C p.? p.? 3 2 -34 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 transversion A C A>C 0.000 -0.279 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . 0.1391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43129677 C T - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution intron GRCh37 43129677 43129677 Chr9(GRCh37):g.43129677C>T 319-37 319-37 NM_001012419.2:c.319-37G>A p.? p.? 3 2 -37 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 New Acceptor Site 43129675 6.73286 0.166964 79.906 transition G A G>A 0.000 -0.521 205 PASS . . . . . . . . . . . . . . . . 0.17391305 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.4144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 43133304 T C - ANKRD20A3 31981 Ankyrin repeat domain 20 family, member A3 NM_001012419.2 -1 3930 2472 NP_001012419.1 Q5VUR7 substitution synonymous exon GRCh37 43133304 43133304 Chr9(GRCh37):g.43133304T>C 129 129 NM_001012419.2:c.129A>G p.Lys43= p.Lys43Lys 1 -75 5' 72.2046 7.37531 0.863557 13.9582 72.2046 7.37531 0.863557 13.813 0 Ankyrin repeat-containing domain transition A G A>G 0.000 -0.924 K Lys AAA 0.425 K Lys AAG 0.575 43 142 PASS . . . . . . . . . . . ENSG00000132498:ENST00000254835:exon1:c.A129G:p.K43K . . . . 0.115384616 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.5111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000132498 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-142 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201333660 9 43624850 C T - SPATA31A6 32006 SPATA31 subfamily A, member 6 NM_001145196.1 -1 4214 4032 NP_001138668.1 Q5VVP1 substitution synonymous exon GRCh37 43624850 43624850 Chr9(GRCh37):g.43624850C>T 3837 3837 NM_001145196.1:c.3837G>A p.Arg1279= p.Arg1279Arg 4 3529 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 rs201333660 yes no Frequency 1 C 0.000000 0 0.000175 0.000110 0.000032 0.000119 0.000124 0.000037 0.000258 0.000255 0.000180 0.000258 41 2 1 1 2 1 28 5 1 234474 18258 30904 8384 16120 27086 108538 19634 5550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 2 1 1 2 1 28 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3848590 Breast 0.000410 2442 transition G A G>A 0.000 0.609 R Arg AGG 0.207 R Arg AGA 0.205 1279 206 PASS . . . . . . . . . . . ENSG00000185775:ENST00000332857:exon4:c.G3837A:p.R1279R SPATA31A6:uc011lrb.2:exon4:c.G3837A:p.R1279R SPATA31A6:NM_001145196:exon4:c.G3837A:p.R1279R . . 0.1754386 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R1279|SPATA31A6|mRNA|CODING|NM_001145196|NM_001145196.ex.4) . . . . . . . -0.0202 -0.181 -0.020 n . . . . . 7.480e-04 . . . 0.0009 0.0007 0 0.0011 0.0007 0.0010 0 0 0.0003 0.0008 0 0.0009 0.0008 0.0012 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.221 @ . . . 0.16 0.28 182 ENSG00000185775 SPATA31A6 SPATA31A6 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.147 . . . HET . rs201333660 . . . . . . ID\x3dCOSM3848590\x3bOCCURENCE\x3d1(breast) . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 3.307e-05 0 0.0001 0.0003 0.0003 0.0002 3.692e-05 0 8.441e-05 0 0.0049 0 0 8.543e-05 0 . . 0.133 . . . . . . . . 1.0E-206 0.000 0.063 . 0.043 . . 0.141 . 0.072 . . . . rs71223786 rs71223786 rs201333660 1 1538 10 1/0 0,227,255 +. 9 43625791 G A - SPATA31A6 32006 SPATA31 subfamily A, member 6 NM_001145196.1 -1 4214 4032 NP_001138668.1 Q5VVP1 substitution missense exon GRCh37 43625791 43625791 Chr9(GRCh37):g.43625791G>A 2896 2896 NM_001145196.1:c.2896C>T p.Leu966Phe p.Leu966Phe 4 2588 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 40344 4072 7590 978 6042 5058 14836 568 1200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes COSM5428006|COSM5428006 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition C T C>T 0.000 -1.167 L Leu CTC 0.197 F Phe TTC 0.546 966 13 5 Northern white-cheeked gibbon 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.2 III.49 good 7.601E-1 0.2967 239 PASS . . . . . . . . . . . ENSG00000185775:ENST00000332857:exon4:c.C2896T:p.L966F SPATA31A6:uc011lrb.2:exon4:c.C2896T:p.L966F SPATA31A6:NM_001145196:exon4:c.C2896T:p.L966F . . 0.27142859 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 140.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L966F|SPATA31A6|mRNA|CODING|NM_001145196|NM_001145196.ex.4) . . . . . . . -0.8981 -1.208 -0.898 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.061 @ . . . . . . ENSG00000185775 SPATA31A6 SPATA31A6 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.059 . . . HET 0.34 . . . . . . . . . . . . . 3.1046 . ENST00000332857 I.23 -2.46 . 0.050000 Q5VVP1 . . . . . . . . . 0 2.479e-05 0 0 0 0 6.74e-05 0 0 . . . . . . . . . . 0.246 . -1.224 -1.224000 . . 0.050000 . . 1.0E-239 0.001 0.137 . 0.203 . . 0.040 . 0.253 -1.224 . . . . . . 1 1538 10 1/0 0,228,255 +. 9 43625849 C G - SPATA31A6 32006 SPATA31 subfamily A, member 6 NM_001145196.1 -1 4214 4032 NP_001138668.1 Q5VVP1 substitution missense exon GRCh37 43625849 43625849 Chr9(GRCh37):g.43625849C>G 2838 2838 NM_001145196.1:c.2838G>C p.Glu946Asp p.Glu946Asp 4 2530 3' 83.1675 X.43 0.89416 8.85214 83.1675 X.43 0.89416 8.85214 0 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000097 0.000000 0.000000 0.000097 1 0 0 0 0 0 1 0 0 27092 2710 4440 598 4040 3774 10334 416 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 48 Exomes transversion G C G>C 0.000 -0.117 E Glu GAG 0.583 D Asp GAC 0.539 946 13 9 Cow 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.09 III.32 good 4.529E-2 0.02693 233 PASS . . . . . . . . . . . ENSG00000185775:ENST00000332857:exon4:c.G2838C:p.E946D SPATA31A6:uc011lrb.2:exon4:c.G2838C:p.E946D SPATA31A6:NM_001145196:exon4:c.G2838C:p.E946D . . 0.25233644 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E946D|SPATA31A6|mRNA|CODING|NM_001145196|NM_001145196.ex.4) . . . . . . . -0.9989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185775 SPATA31A6 SPATA31A6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.5 . . . . . . . . . . . . . 1.1754 . ENST00000332857 II.44 -0.709 . 0.380000 Q5VVP1 . . . . . . . . . 0 3.691e-05 0 0 0 0 9.677e-05 0 0 . . . . . . . . . . . . -0.150 -0.150000 . . 0.380000 . . 1.0000000000000001E-233 . . . . . . . . . -0.150 . . . . . . 1 1538 10 1/0 0,238,255 +. 9 43800989 C T - CNTNAP3B 32035 Contactin associated protein-like 3B NM_001201380.2 1 6383 3867 NP_001188309.2 Q96NU0 substitution synonymous exon GRCh37 43800989 43800989 Chr9(GRCh37):g.43800989C>T 516 516 NM_001201380.2:c.516C>T p.Ile172= p.Ile172Ile 4 -23 5' 79.0462 8.65161 0.923968 3.49092 79.0462 8.65161 0.923968 2.88231 0 Coagulation factor 5/8 C-terminal type domain transition C T C>T 0.528 -1.893 I Ile ATC 0.481 I Ile ATT 0.356 172 236 PASS . . . . . . . . . . . . CNTNAP3B:uc004ada.2:exon4:c.C516T:p.I172I CNTNAP3B:NM_001201380:exon4:c.C516T:p.I172I . . 0.26666668 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.9001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.33 182 ENSG00000154529 CNTNAP3B CNTNAP3B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . IV.06 . ENST00000377561 II.54 -5.08 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.818 -1.818000 . . . . . 1.0E-236 . . . . . . . . . -1.818 . . rs4436169 rs4436169 rs4436169 rs4436169 1 1538 10 1/0 0,255,255 +. 9 43908492 C T - CNTNAP3B 32035 Contactin associated protein-like 3B NM_001201380.2 1 6383 3867 NP_001188309.2 Q96NU0 substitution synonymous exon GRCh37 43908492 43908492 Chr9(GRCh37):g.43908492C>T 3411 3411 NM_001201380.2:c.3411C>T p.Ala1137= p.Ala1137Ala 21 -32 5' 95.872 9.66448 0.996899 3.92933 95.872 9.66448 0.996899 3.85386 0 Laminin G, subdomain 2 Laminin G, subdomain 1 Laminin G domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3738 570 150 38 76 0 1430 1300 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 62 Genomes transition C T C>T 0.921 -1.005 A Ala GCC 0.403 A Ala GCT 0.263 1137 221 PASS . . . . . . . . . . . ENSG00000154529:ENST00000377564:exon21:c.C3411T:p.A1137A . CNTNAP3B:NM_001201380:exon21:c.C3411T:p.A1137A . . 0.2195122 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.4393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000154529 CNTNAP3B CNTNAP3B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 44991021 G A - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991021 44991021 Chr9(GRCh37):g.44991021G>A 294-62 294-62 NR_027421.1:n.294-62G>A p.? p.? 2 1 -62 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.19742 0 transition G A G>A 0.020 0.125 198 PASS . . . . . . . . . . . . . . . . 0.15686275 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.3435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 44991025 T C - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991025 44991025 Chr9(GRCh37):g.44991025T>C 294-58 294-58 NR_027421.1:n.294-58T>C p.? p.? 2 1 -58 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.043 0 transition T C T>C 0.016 0.125 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.4263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.77 0.31 182 ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs76196504 rs76196504 1 1538 10 1/0 0,255,255 +. 9 44991044 C G - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991044 44991044 Chr9(GRCh37):g.44991044C>G 294-39 294-39 NR_027421.1:n.294-39C>G p.? p.? 2 1 -39 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.53622 0 44991047 -20.2941 transversion C G C>G 0.004 -1.893 197 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.8282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.7 0.29 182 ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs76557206 rs76557206 1 1538 10 1/0 0,255,255 +. 9 44991066 A T - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991066 44991066 Chr9(GRCh37):g.44991066A>T 294-17 294-17 NR_027421.1:n.294-17A>T p.? p.? 2 1 -17 3' 82.7057 7.88334 0.967598 7.61998 82.7057 X.91 0.978318 XI.94 0.121483 44991066 -89.8529 transversion A T A>T 0.016 0.125 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.3592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +. 9 44991069 G A - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution intron GRCh37 44991069 44991069 Chr9(GRCh37):g.44991069G>A 294-14 294-14 NR_027421.1:n.294-14G>A p.? p.? 2 1 -14 3' 82.7057 7.88334 0.967598 7.61998 0 3.40141 0.969699 0 -0.52212 transition G A G>A 0.016 0.125 176 PASS . . . . . . . . . . . . . . . . 0.10714286 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||FAM27C|Non-coding_transcript|NON_CODING|NR_027421|) . . . . . . . -0.3571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +. 9 44991172 T C - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution exon GRCh37 44991172 44991172 Chr9(GRCh37):g.44991172T>C 383 383 NR_027421.1:n.383T>C 2 90 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 0.000076 0.000497 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000497 1 1 0 0 0 0 0 0 0 13106 2014 1932 230 1696 1762 4922 138 412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.020 0.044 233 PASS . . . . . . . . . . . ENSG00000154537:ENST00000377542:exon2:c.T168C:p.D56D . . . . 0.25454545 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M128T|FAM27C|Non-coding_transcript|NON_CODING|NR_027421|NR_027421.ex.2) . . . . . . . -0.3480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 7.63e-05 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 44991183 T C - FAM27C 23668 Family with sequence similarity 27, member C NR_027421.1 1 703 0 substitution exon GRCh37 44991183 44991183 Chr9(GRCh37):g.44991183T>C 394 394 NR_027421.1:n.394T>C 2 101 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 transition T C T>C 0.039 0.044 228 PASS . . . . . . . . . . . ENSG00000154537:ENST00000377542:exon2:c.T179C:p.F60S . . . . 0.24074075 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.370 . @ . . . . . 1 0.121 . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F132L|FAM27C|Non-coding_transcript|NON_CODING|NR_027421|NR_027421.ex.2) . . . . . . . -0.7453 -0.993 -0.745 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000154537 FAM27C FAM27C . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . D 0.974 0.682 . . 37 . 0.388 . . 0.387 . . . . 0.090 . . . . . . . . . . . . . . . 0.895 . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . 0.488 . HET 0 . . . . . . . . . . . . . . . ENST00000377542 . . . 0.000000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.056 0.056000 . . 0.000000 . . 1.0E-228 0.003 0.159 . 0.083 . . 0.153 . 0.223 0.056 . . . . . . 1 1538 10 1/0 0,255,255 +rs879966354 (chr9:45727239 C/G) 9 45727239 C G No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs370952259 (chr9:45727266 C/T) 9 45727266 C T No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs373781881 (chr9:45727267 G/T) 9 45727267 G T No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs375773067 (chr9:45727296 G/A) 9 45727296 G A No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs368024883 (chr9:45727310 G/C) 9 45727310 G C No Alamut gene - other known genes: FAM27D1 FAM27D1 +. (chr9:45727326 G/T) 9 45727326 G T No Alamut gene - other known genes: FAM27D1 FAM27D1 +. (chr9:45727329 T/C) 9 45727329 T C No Alamut gene - other known genes: FAM27D1 FAM27D1 +. (chr9:45727821 C/T) 9 45727821 C T No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs782523495 (chr9:45727827 C/T) 9 45727827 C T No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs201293336 (chr9:45727963 T/C) 9 45727963 T C No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs199519979 (chr9:45727974 T/C) 9 45727974 T C No Alamut gene - other known genes: FAM27D1 FAM27D1 +rs10796744 9 45733796 T C - FAM27E2 32013 Family with sequence similarity 27, member E2 NR_103714.1 1 1767 0 substitution exon GRCh37 45733796 45733796 Chr9(GRCh37):g.45733796T>C 580 580 NR_103714.1:n.580T>C 1 rs10796744 yes no Frequency/1000G 2 0.000000 0 0.077476 0.124800 0.038900 0.019800 0.108300 0.080700 0.001540 0.002479 0.000764 0.000856 0.001868 0.000081 0.002184 0.001411 0.001065 0.002479 157 20 11 4 18 1 83 17 3 101978 8068 14394 4674 9638 12334 38006 12048 2816 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000053 0.000000 0.000000 1 0 0 0 0 0 1 0 0 15 2 0 0 0 0 11 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -2.054 128 PASS . . . . . 0.12 0.077 0.081 0.02 0.11 0.039 ENSG00000204807:ENST00000377529:exon1:c.T209C:p.M70T . . . . 0.5263158 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.6920 . . . . . . . . 4.914e-04 . . . 0 0 0 0 0 0 0 0 0 0.0001 0 0.0037 0 0 0 0 nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . 0.3343 . . . 0.18 0.14 182 ENSG00000204807 . . . dist\x3d5513\x3bdist\x3d407768 dist\x3d728506\x3bdist\x3d383147 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 rs10796744 . . . . . . . . . . . . . . ENST00000377529 . . . 1.000000 . . . . . . . . . . 0 0.0004 0.0006 0.0009 0.0001 0.0006 0.0003 0.0005 8.108e-05 0.0046 0.0069 0.0039 0 0.0138 0.0047 0.0081 0.0032 . . . . -2.094 -2.094000 . . 1.000000 . . 1.0E-128 . . . . . . . . . -2.094 . . . . . . 1 1538 10 1/0 0,255,255 +rs57600753 (chr9:46202324 C/T) 9 46202324 C T Not on a known gene +rs10907974 9 46687658 G T - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687658 46687658 Chr9(GRCh37):g.46687658G>T 102 102 NR_047527.1:n.102G>T 1 -457 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 Cryptic Acceptor Strongly Activated 46687663 0.047145 0.798839 0.56728 rs10907974 no no 0 0.000000 0 transversion G T G>T 0.307 0.367 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . 0.1985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.69 0.26 182 . KGFLP1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.49 rs10907974 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs10907974 rs10907974 rs10907974 rs10907974 1 1538 10 1/0 0,251,255 +. 9 46687715 C A - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687715 46687715 Chr9(GRCh37):g.46687715C>A 159 159 NR_047527.1:n.159C>A 1 -400 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 transversion C A C>A 0.004 -0.844 216 PASS . . . . . . . . . . . . . . . . 0.20338982 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.3196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . . KGFLP1 KGFLP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs7044437 9 46687740 T G - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687740 46687740 Chr9(GRCh37):g.46687740T>G 184 184 NR_047527.1:n.184T>G 1 -375 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs7044437 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T G T>G 0.000 -2.619 255 PASS . . . . . . . . . . . . . . . . 0.56666666 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.7974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.74 0.35 182 . KGFLP1 KGFLP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs7044437 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7044437 rs7044437 rs7044437 rs7044437 1 1538 10 1/0 0,255,255 +rs3123357 9 46687900 C G - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687900 46687900 Chr9(GRCh37):g.46687900C>G 344 344 NR_047527.1:n.344C>G 1 -215 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs3123357 no no 0 0.000000 0 transversion C G C>G 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3773585 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 53.0 . . . . . . . . . . -0.1041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.63 0.27 182 . KGFLP1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs3123357 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3123357 rs3123357 rs3123357 rs3123357 1 1538 10 1/0 0,255,255 +rs7037882 9 46687929 C T - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46687929 46687929 Chr9(GRCh37):g.46687929C>T 373 373 NR_047527.1:n.373C>T 1 -186 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 rs7037882 no no 0 0.000000 0 transition C T C>T 0.016 0.367 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . 0.0028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.17 182 . KGFLP1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs7037882 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs3206882 rs3206882 rs3206882 rs3206882 1 1538 10 1/0 0,255,255 +. 9 46688032 T C - FGF7P6 27852 Fibroblast growth factor 7 pseudogene 6 NR_047527.1 1 2225 0 substitution exon GRCh37 46688032 46688032 Chr9(GRCh37):g.46688032T>C 476 476 NR_047527.1:n.476T>C 1 -83 5' 78.8739 8.00287 0.937971 3.88501 78.8739 8.00287 0.937971 3.88501 0 transition T C T>C 0.075 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 24.0 . . . . . . . . . . -0.1681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.73 0.32 182 . KGFLP1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1001418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7047882 rs7047882 rs7047882 rs7047882 1 1538 10 1/0 0,255,255 +. (chr9:47304105 A/T) 9 47304105 A T Not on a known gene +. (chr9:47314188 G/C) 9 47314188 G C Not on a known gene +. (chr9:47314195 C/A) 9 47314195 C A Not on a known gene +. 9 65503462 T A - SPATA31A7 32007 SPATA31 subfamily A, member 7 NM_015667.2 -1 4223 4044 NP_056482.2 Q8IWB4 substitution 3'UTR GRCh37 65503462 65503462 Chr9(GRCh37):g.65503462T>A *54 *54 NM_015667.2:c.*54A>T p.? p.? 4 616584 3790 3' 83.1675 X.43 0.89416 8.54356 83.1675 X.43 0.89416 8.54356 0 transversion A T A>T 0.287 0.932 225 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . 0.0447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.48 0.76 182 ENSG00000234734 SPATA31A5 . ENST00000355045:c.*54A>T uc004adx.4:c.*54A>T NM_001113541:c.*54A>T\x3bNM_015667:c.*54A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs79988357 rs79988357 1 1538 10 1/0 0,255,255 +. 9 65503786 G A - SPATA31A7 32007 SPATA31 subfamily A, member 7 NM_015667.2 -1 4223 4044 NP_056482.2 Q8IWB4 substitution synonymous exon GRCh37 65503786 65503786 Chr9(GRCh37):g.65503786G>A 3774 3774 NM_015667.2:c.3774C>T p.His1258= p.His1258His 4 616584 3466 3' 83.1675 X.43 0.89416 8.54356 83.1675 X.43 0.89416 8.54356 0 transition C T C>T 0.004 -0.602 H His CAC 0.587 H His CAT 0.413 1258 243 PASS . . . . . . . . . . . ENSG00000234734:ENST00000355045:exon4:c.C3774T:p.H1258H SPATA31A5:uc004adx.4:exon4:c.C3774T:p.H1258H . . . 0.28440368 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.3283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.3 182 ENSG00000234734 SPATA31A5 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . rs2762364 rs2762364 rs2762364 rs2762364 1 1538 10 1/0 0,239,255 +. (chr9:65591386 T/C) 9 65591386 T C Not on a known gene +. (chr9:65603121 G/C) 9 65603121 G C Not on a known gene +. (chr9:65657147 C/T) 9 65657147 C T Not on a known gene +. (chr9:65657160 C/T) 9 65657160 C T Not on a known gene +rs28445511 (chr9:65657247 T/G) 9 65657247 T G Not on a known gene +rs28699396 (chr9:65657398 T/A) 9 65657398 T A Not on a known gene +. 9 66457096 CTGA C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 deletion upstream GRCh37 66457097 66457099 Chr9(GRCh37):g.66457097_66457099del -192 -190 NR_121647.1:n.-192_-190del p.? p.? 1 -257 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Weakly Activated 66457116 7.08322 0.129103 82.9845 9.37751 0.141249 82.9845 TGA 255 Pass . . . . . . . . . . . . . . . . 0.10344828 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 174 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . . . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,99 +rs200733760 9 66457106 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457106 66457106 Chr9(GRCh37):g.66457106C>T -183 -183 NR_121647.1:n.-183C>T p.? p.? 1 -250 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Weakly Activated 66457116 7.08322 0.129103 82.9845 6.72301 0.262596 86.2672 rs200733760 no no 0 0.000000 0 transition C T C>T 0.114 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.4224599 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 187.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . 0.52 0.48 182 ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200733760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200733760 rs200733760 1 1538 10 1/0 0,224,244 +. 9 66457108 G T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457108 66457108 Chr9(GRCh37):g.66457108G>T -181 -181 NR_121647.1:n.-181G>T p.? p.? 1 -248 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Strongly Activated 66457116 7.08322 0.129103 82.9845 7.34557 0.43004 87.8664 transversion G T G>T 0.122 0.125 188 PASS . . . . . . . . . . . . . . . . 0.12972973 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 185.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs113087405 9 66457112 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457112 66457112 Chr9(GRCh37):g.66457112G>A -177 -177 NR_121647.1:n.-177G>A p.? p.? 1 -244 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs113087405 no no 0 0.000000 0 transition G A G>A 0.130 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15025906 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 193.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . 0.52 0.47 182 ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113087405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs113087405 rs113087405 1 1538 10 1/0 0,202,255 +rs73447819 9 66457127 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457127 66457127 Chr9(GRCh37):g.66457127G>A -162 -162 NR_121647.1:n.-162G>A p.? p.? 1 -229 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs73447819 no no 0 0.000000 0 transition G A G>A 0.087 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.6243094 . . @ 113 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 181.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . 0.49 0.43 182 ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73447819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73447819 rs73447819 rs73447819 1 1538 10 1/0 0,232,231 +rs796446320 9 66457128 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457128 66457128 Chr9(GRCh37):g.66457128C>T -161 -161 NR_121647.1:n.-161C>T p.? p.? 1 -228 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs796446320 no no 0 0.000000 0 transition C T C>T 0.091 0.125 190 PASS . . . . . . . . . . . . . . . . 0.13440861 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 186.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs796580270 9 66457129 A G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457129 66457129 Chr9(GRCh37):g.66457129A>G -160 -160 NR_121647.1:n.-160A>G p.? p.? 1 -227 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs796580270 no no 0 0.000000 0 transition A G A>G 0.091 0.125 191 PASS . . . . . . . . . . . . . . . . 0.13829787 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 188.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs777378053 9 66457139 C A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457139 66457139 Chr9(GRCh37):g.66457139C>A -150 -150 NR_121647.1:n.-150C>A p.? p.? 1 -217 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs777378053 no no 0 0.000000 0 transversion C A C>A 0.118 0.125 198 PASS . . . . . . . . . . . . . . . . 0.15306123 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 196.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic upstream . . . @ . . . . . . ENSG00000238113 AK308561 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs777378053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs78939328 9 66457151 G C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457151 66457151 Chr9(GRCh37):g.66457151G>C -138 -138 NR_121647.1:n.-138G>C p.? p.? 1 -205 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs78939328 no no 0 0.000000 0 transversion G C G>C 0.193 0.125 113 PASS . . . . . . . . . . . . . . . . 0.26288658 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 194.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . @ . . . 0.61 0.48 182 ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78939328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . . . rs78939328 rs78939328 1 1538 16 1/0 0,228,255 +. 9 66457169 AGAG A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 deletion upstream GRCh37 66457171 66457173 Chr9(GRCh37):g.66457171_66457173del -118 -116 NR_121647.1:n.-118_-116del p.? p.? 1 -183 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs138400587 no no 0 0.000000 0 AGG 255 Pass . . . . . . . . . . . . . . . . 0.27979276 . . . 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 193 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . . . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138400587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138400587 rs138400587 1 1538 10 1.I 0,10,55 +. 9 66457173 GGA G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 deletion upstream GRCh37 66457184 66457185 Chr9(GRCh37):g.66457184_66457185del -105 -104 NR_121647.1:n.-105_-104del p.? p.? 1 -171 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 GA 255 Pass . . . . . . . . . . . . . . . . 0.27513227 . . . 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 189 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . . . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,56 +rs768833405 9 66457178 G C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457178 66457178 Chr9(GRCh37):g.66457178G>C -111 -111 NR_121647.1:n.-111G>C p.? p.? 1 -178 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs768833405 no no 0 0.000000 0 transversion G C G>C 0.094 -1.732 235 PASS . . . . . . . . . . . . . . . . 0.25128207 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 195.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . @ . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs768833405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +rs2874584 9 66457189 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457189 66457189 Chr9(GRCh37):g.66457189C>T -100 -100 NR_121647.1:n.-100C>T p.? p.? 1 -167 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs2874584 no no 0 0.000000 0 transition C T C>T 0.079 0.125 255 PASS . . . . . . . . . . . . . . . . 0.34065935 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 182.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . @ . . . 0.61 0.49 182 ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2874584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs2874584 rs2874584 1 1538 10 1/0 0,224,255 +. 9 66457192 TAGAGAGAG T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 deletion upstream GRCh37 66457204 66457211 Chr9(GRCh37):g.66457204_66457211del -85 -78 NR_121647.1:n.-85_-78del p.? p.? 1 -145 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 GAGAGAGA 255 Pass . . . . . . . . . . . . . . . . 0.36956522 . . . 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 184 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . . . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,43 +rs796214744 9 66457278 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution upstream GRCh37 66457278 66457278 Chr9(GRCh37):g.66457278G>A -11 -11 NR_121647.1:n.-11G>A p.? p.? 1 -78 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 7.09607 0 rs796214744 no no 0 0.000000 0 transition G A G>A 0.020 -1.651 107 PASS . . . . . . . . . . . . . . . . 0.12839507 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 405.0 . . UPSTREAM(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream upstream upstream . . . @ . . . . . . ENSG00000238113\x3bENSG00000202474 . LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-107 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,174,255 +rs75999199 9 66457310 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution exon GRCh37 66457310 66457310 Chr9(GRCh37):g.66457310T>G 22 22 NR_121647.1:n.22T>G 1 -46 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 7.22066 0 rs75999199 no no 0 0.000000 0 transversion T G T>G 0.016 0.125 255 PASS . . . . . . . . . . . . . . . . 0.42405063 . . @ 201 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 474.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Ggt|C8G|LINC01410|Non-coding_transcript|NON_CODING|NR_121647|NR_121647.ex.1) . . . . . . . -0.0533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.45 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75999199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75999199 rs75999199 1 1538 10 1/0 0,184,205 +rs79959518 9 66457313 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution exon GRCh37 66457313 66457313 Chr9(GRCh37):g.66457313G>A 25 25 NR_121647.1:n.25G>A 1 -43 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.30978 0 rs79959518 no no 0 0.000000 0 transition G A G>A 0.020 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.598513 . . @ 322 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 538.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G9R|LINC01410|Non-coding_transcript|NON_CODING|NR_121647|NR_121647.ex.1) . . . . . . . -0.4942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.55 0.44 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79959518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79959518 rs79959518 1 1538 10 1/0 0,185,185 +rs77524857 9 66457317 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution exon GRCh37 66457317 66457317 Chr9(GRCh37):g.66457317C>T 29 29 NR_121647.1:n.29C>T 1 -39 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.03559 0 rs77524857 no no 0 0.000000 0 transition C T C>T 0.130 0.125 255 PASS . . . . . . . . . . . . . . . . 0.36177474 . . @ 212 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 586.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A10V|LINC01410|Non-coding_transcript|NON_CODING|NR_121647|NR_121647.ex.1) . . . . . . . 0.0415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.48 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77524857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77524857 rs77524857 1 1538 10 1/0 0,171,201 +rs80001863 9 66457324 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution exon GRCh37 66457324 66457324 Chr9(GRCh37):g.66457324G>A 36 36 NR_121647.1:n.36G>A 1 -32 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.16838 0 rs80001863 no no 0 0.000000 0 transition G A G>A 0.177 0.125 255 PASS . . . . . . . . . . . . . . . . 0.40822786 . . @ 258 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 632.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A12|LINC01410|Non-coding_transcript|NON_CODING|NR_121647|NR_121647.ex.1) . . . . . . . 0.0789 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.53 0.45 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80001863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80001863 rs80001863 1 1538 10 1/0 0,172,197 +rs199952614 9 66457374 A G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457374 66457374 Chr9(GRCh37):g.66457374A>G 67+19 67+19 NR_121647.1:n.67+19A>G p.? p.? 1 1 19 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 7.07076 0 Cryptic Acceptor Strongly Activated 66457379 1.84006 0.539516 2.83468 0.544515 79.9582 rs199952614 no no 0 0.000000 0 transition A G A>G 0.075 0.125 148 PASS . . . . . . . . . . . . . . . . 0.17041801 . . @ 106 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 622.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.49 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199952614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . rs199952614 rs199952614 1 1538 10 1/0 0,157,242 +rs796905018 9 66457384 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457384 66457384 Chr9(GRCh37):g.66457384G>A 67+29 67+29 NR_121647.1:n.67+29G>A p.? p.? 1 1 29 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.06219 0 rs796905018 no no 0 0.000000 0 transition G A G>A 0.059 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10906515 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 706.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,254 +rs1809739 9 66457388 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457388 66457388 Chr9(GRCh37):g.66457388T>G 67+33 67+33 NR_121647.1:n.67+33T>G p.? p.? 1 1 33 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 7.36157 0 rs1809739 no no 0 0.000000 0 transversion T G T>G 0.035 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.7226173 . . @ 508 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 703.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.3731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.42 0.5 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1809739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1809739 rs1809739 rs1809739 rs1809739 1 1538 10 1/0 0,177,172 +rs78461570 9 66457399 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457399 66457399 Chr9(GRCh37):g.66457399T>G 67+44 67+44 NR_121647.1:n.67+44T>G p.? p.? 1 1 44 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.78871 0 Cryptic Donor Strongly Activated 66457396 0.001663 57.6789 0.793015 0.006197 63.1922 rs78461570 no no 0 0.000000 0 transversion T G T>G 0.016 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.5618632 . . @ 386 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.3947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.43 0.51 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78461570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78461570 rs78461570 1 1538 10 1/0 0,178,186 +rs796154742 9 66457404 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457404 66457404 Chr9(GRCh37):g.66457404G>A 67+49 67+49 NR_121647.1:n.67+49G>A p.? p.? 1 1 49 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.39581 0 rs796154742 no no 0 0.000000 0 transition G A G>A 0.012 -1.489 192 PASS . . . . . . . . . . . . . . . . 0.13881402 . . @ 103 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 742.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.3770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,143,247 +rs79030992 9 66457440 A G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457440 66457440 Chr9(GRCh37):g.66457440A>G 67+85 67+85 NR_121647.1:n.67+85A>G p.? p.? 1 1 85 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs79030992 no no 0 0.000000 0 transition A G A>G 0.016 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.34191704 . . @ 239 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 699.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.42 0.38 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79030992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4077229 rs4077229 rs4077229 rs4077229 1 1538 10 1/0 0,165,216 +rs79122745 9 66457451 T C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457451 66457451 Chr9(GRCh37):g.66457451T>C 67+96 67+96 NR_121647.1:n.67+96T>C p.? p.? 1 1 96 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs79122745 no no 0 0.000000 0 transition T C T>C 0.004 -3.588 255 PASS . . . . . . . . . . . . . . . . 0.54626864 . . @ 366 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 670.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.9280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.44 0.53 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79122745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79122745 rs79122745 1 1538 10 1/0 0,182,197 +rs75525313 9 66457460 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457460 66457460 Chr9(GRCh37):g.66457460G>A 67+105 67+105 NR_121647.1:n.67+105G>A p.? p.? 1 1 105 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs75525313 no no 0 0.000000 0 transition G A G>A 0.012 0.125 224 PASS . . . . . . . . . . . . . . . . 0.2244898 . . @ 143 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 637.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.53 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75525313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs75525313 rs75525313 1 1538 10 1/0 0,158,238 +rs11262297 9 66457465 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457465 66457465 Chr9(GRCh37):g.66457465T>G 67+110 67+110 NR_121647.1:n.67+110T>G p.? p.? 1 1 110 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs11262297 no no 0 0.000000 0 transversion T G T>G 0.004 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.60314685 . . @ 345 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 572.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.53 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11262297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11262297 rs11262297 rs11262297 rs11262297 1 1538 10 1/0 0,193,201 +. 9 66457467 G GTGTGT - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 insertion intron GRCh37 66457468 66457469 Chr9(GRCh37):g.66457468_66457469insGTGTT 67+113 67+114 NR_121647.1:n.67+113_67+114insGTGTT p.? p.? 1 1 113 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Donor Strongly Activated 66457466 6,00E-06 46.4319 0.478633 0.003783 64.3379 GTGTT 255 Pass . . . . . . . . . . . . . . . . 0.1627907 . . . 91 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 559 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,79 +. 9 66457471 T TA - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 insertion intron GRCh37 66457471 66457472 Chr9(GRCh37):g.66457471_66457472insA 67+116 67+117 NR_121647.1:n.67+116_67+117insA p.? p.? 1 1 116 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs796528805 no no 0 0.000000 0 A 255 Pass . . . . . . . . . . . . . . . . 0.21669628 . . . 122 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 563 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,66 +rs2002300 9 66457475 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457475 66457475 Chr9(GRCh37):g.66457475C>T 67+120 67+120 NR_121647.1:n.67+120C>T p.? p.? 1 1 120 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs2002300 yes no Frequency 1 0.000000 0 transition C T C>T 0.016 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.6900901 . . @ 383 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 555.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.37 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2002300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2002300 rs2002300 rs2002300 rs2002300 1 1538 10 1/0 0,197,199 +rs77629849 9 66457480 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457480 66457480 Chr9(GRCh37):g.66457480G>A 67+125 67+125 NR_121647.1:n.67+125G>A p.? p.? 1 1 125 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs77629849 no no 0 0.000000 0 transition G A G>A 0.028 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.46797153 . . @ 263 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 562.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.47 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77629849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77629849 rs77629849 1 1538 10 1/0 0,186,218 +rs113875913 9 66457498 G T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457498 66457498 Chr9(GRCh37):g.66457498G>T 67+143 67+143 NR_121647.1:n.67+143G>T p.? p.? 1 1 143 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Strongly Activated 66457515 3.03457 0.014517 70.4556 4.55355 0.047528 70.4556 rs113875913 no no 0 0.000000 0 transversion G T G>T 0.138 0.125 168 PASS . . . . . . . . . . . . . . . . 0.27209705 . . @ 157 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 577.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.45 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113875913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-168 . . . . . . . . . . . . . . rs113875913 rs113875913 1 1538 10 1/0 0,173,234 +. 9 66457511 T G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457511 66457511 Chr9(GRCh37):g.66457511T>G 67+156 67+156 NR_121647.1:n.67+156T>G p.? p.? 1 1 156 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 New Acceptor Site 66457512 3.80334 0.045633 70.7674 transversion T G T>G 0.106 -2.054 175 PASS . . . . . . . . . . . . . . . . 0.10291595 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 583.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,255 +rs74360065 9 66457535 T C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457535 66457535 Chr9(GRCh37):g.66457535T>C 67+180 67+180 NR_121647.1:n.67+180T>C p.? p.? 1 1 180 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs74360065 no no 0 0.000000 0 transition T C T>C 0.098 0.125 174 PASS . . . . . . . . . . . . . . . . 0.10141988 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 493.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.43 0.5 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs74360065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . rs74360065 rs74360065 1 1538 10 1/0 0,157,255 +rs79475537 9 66457562 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457562 66457562 Chr9(GRCh37):g.66457562C>T 67+207 67+207 NR_121647.1:n.67+207C>T p.? p.? 1 1 207 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs79475537 no no 0 0.000000 0 transition C T C>T 0.063 0.125 196 PASS . . . . . . . . . . . . . . . . 0.14874142 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 437.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . 0.0531 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.36 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs79475537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs36158570 rs36158570 rs36158570 rs36158570 1 1538 10 1/0 0,167,255 +rs78196222 9 66457585 G T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457585 66457585 Chr9(GRCh37):g.66457585G>T 67+230 67+230 NR_121647.1:n.67+230G>T p.? p.? 1 1 230 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 Cryptic Acceptor Weakly Activated 66457596 8.89473 0.346285 81.9714 8.92835 0.832939 88.2811 rs78196222 no no 0 0.000000 0 transversion G T G>T 0.004 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.37965262 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 403.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.49 0.47 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78196222 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs78196222 rs78196222 1 1538 10 1/0 0,192,239 +rs10907850 9 66457588 T C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457588 66457588 Chr9(GRCh37):g.66457588T>C 67+233 67+233 NR_121647.1:n.67+233T>C p.? p.? 1 1 233 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs10907850 no no 0 0.000000 0 transition T C T>C 0.004 0.125 192 PASS . . . . . . . . . . . . . . . . 0.1392405 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 395.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.43 0.46 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs10907850 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.033 rs10907850 rs10907850 rs10907850 rs10907850 1 1538 10 1/0 0,170,255 +rs141224694 9 66457593 C A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457593 66457593 Chr9(GRCh37):g.66457593C>A 67+238 67+238 NR_121647.1:n.67+238C>A p.? p.? 1 1 238 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs141224694 no no 0 0.000000 0 transversion C A C>A 0.000 -1.651 146 PASS . . . . . . . . . . . . . . . . 0.22099447 . . @ 80 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 362.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.48 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141224694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-146 . . . . . . . . . . . . . . rs141224694 rs141224694 1 1538 10 1/0 0,189,255 +rs1809740 9 66457594 A G - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457594 66457594 Chr9(GRCh37):g.66457594A>G 67+239 67+239 NR_121647.1:n.67+239A>G p.? p.? 1 1 239 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs1809740 yes no Frequency/1000G 2 0.000000 0 0.668530 0.700500 0.662600 0.617100 0.679900 0.674400 transition A G A>G 0.000 -1.651 255 PASS . . . . . 0.7 0.67 0.67 0.62 0.68 0.66 . . . . . 0.9027027 . . @ 334 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 370.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.3315 . . . 0.45 0.47 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1809740 0.174 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.17 rs1809740 rs1809740 rs1809740 rs1809740 1 1538 10 1/0 0,206,203 +rs78450472 9 66457595 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457595 66457595 Chr9(GRCh37):g.66457595G>A 67+240 67+240 NR_121647.1:n.67+240G>A p.? p.? 1 1 240 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 New Acceptor Site 66457597 1.58974 0.007264 65.1822 rs78450472 yes no Frequency/1000G 2 0.000000 0 0.063498 0.070300 0.075700 0.050600 0.060600 0.056200 transition G A G>A 0.000 0.125 178 PASS . . . . . 0.07 0.064 0.056 0.051 0.061 0.076 . . . . . 0.10840108 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 369.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.0635 . . . 0.48 0.57 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs78450472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78450472 rs78450472 1 1538 10 1/0 0,170,255 +rs55842063 9 66457605 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457605 66457605 Chr9(GRCh37):g.66457605C>T 67+250 67+250 NR_121647.1:n.67+250C>T p.? p.? 1 1 250 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs55842063 no no 0 0.000000 0 transition C T C>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.37333333 . . @ 140 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 375.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.62 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55842063 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs55842063 rs55842063 rs55842063 rs55842063 1 1538 10 1/0 0,195,247 +rs12380199 9 66457609 G A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457609 66457609 Chr9(GRCh37):g.66457609G>A 67+254 67+254 NR_121647.1:n.67+254G>A p.? p.? 1 1 254 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs12380199 no no 0 0.000000 0 transition G A G>A 0.004 0.125 175 PASS . . . . . . . . . . . . . . . . 0.10263158 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 380.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.57 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs12380199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs12380199 rs12380199 1 1538 10 1/0 0,169,255 +rs74362572 9 66457620 C T - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457620 66457620 Chr9(GRCh37):g.66457620C>T 67+265 67+265 NR_121647.1:n.67+265C>T p.? p.? 1 1 265 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs74362572 no no 0 0.000000 0 transition C T C>T 0.024 0.125 197 PASS . . . . . . . . . . . . . . . . 0.15183246 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 382.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.0636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.41 0.6 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74362572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs74362572 rs74362572 1 1538 10 1/0 0,173,255 +rs1809741 9 66457652 C A - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457652 66457652 Chr9(GRCh37):g.66457652C>A 67+297 67+297 NR_121647.1:n.67+297C>A p.? p.? 1 1 297 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 New Acceptor Site 66457654 X.64 0.942477 86.5686 rs1809741 no no 0 0.000000 0 transversion C A C>A 0.004 -1.974 171 PASS . . . . . . . . . . . . . . . . 0.31666666 . . @ 95 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 300.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.59 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1809741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . . . rs1809741 rs1809741 1 1538 10 1/0 0,209,255 +rs78392104 9 66457664 T C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457664 66457664 Chr9(GRCh37):g.66457664T>C 67+309 67+309 NR_121647.1:n.67+309T>C p.? p.? 1 1 309 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 rs78392104 no no 0 0.000000 0 transition T C T>C 0.008 -1.651 247 PASS . . . . . . . . . . . . . . . . 0.29562044 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 274.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.53 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78392104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs78392104 rs78392104 1 1538 10 1/0 0,202,255 +. 9 66457691 A C - LINC01410 50702 Long intergenic non-protein coding RNA 1410 NR_121647.1 1 2877 0 substitution intron GRCh37 66457691 66457691 Chr9(GRCh37):g.66457691A>C 67+336 67+336 NR_121647.1:n.67+336A>C p.? p.? 1 1 336 5' 71.9892 6.88708 0.861813 6.76049 71.9892 6.88708 0.861813 6.76049 0 transversion A C A>C 0.016 -1.812 242 PASS . . . . . . . . . . . . . . . . 0.27826086 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 230.0 . . INTRON(MODIFIER||||LINC01410|Non-coding_transcript|NON_CODING|NR_121647|) . . . . . . . -0.4872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.55 0.38 182 ENSG00000238113 CR627148 LINC01410 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111684071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . rs77169720 rs111684071 1 1538 10 1/0 0,208,255 +rs764347404 9 66499653 C T - PTGER4P2-CDK2AP2P2 44749 PTGER4P2-CDK2AP2P2 readthrough, transcribed pseudogene NR_024496.1 1 3705 0 substitution exon GRCh37 66499653 66499653 Chr9(GRCh37):g.66499653C>T 328 328 NR_024496.1:n.328C>T 2 25 3' 83.4914 9.20496 0.811129 6.20796 83.4914 9.20496 0.811129 5.85095 0 Cryptic Acceptor Strongly Activated 66499664 2.01757 0.000226 70.4144 2.71933 0.000888 74.5164 rs764347404 yes no Frequency 1 C 0.000000 0 0.002876 0.007595 0.003232 0.000342 0.003393 0.001351 0.001709 0.008161 0.002751 0.008161 582 112 76 3 43 34 164 137 13 202374 14746 23514 8772 12674 25170 95984 16788 4726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 582 112 76 3 43 34 164 137 13 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 0.044 177 PASS . . . . . . . . . . . . X97876:uc004aee.1:exon1:c.C463T:p.R155C . . . 0.10810811 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R110C|PTGER4P2-CDK2AP2P2|Non-coding_transcript|NON_CODING|NR_024496|NR_024496.ex.2) . . . . . . . -0.3106 . . . . . . . . 6.543e-03 . . . 0.0279 0.0125 0.0102 0.0147 0.0033 0.0161 0.0057 0.0039 0.0191 0.0044 0.0084 0.0080 0.0024 0.0022 0 0.0038 . nonsynonymous_SNV . . . . upstream exonic ncRNA_exonic . . . @ . . . 0.69 0.32 182 . X97876 PTGER4P2-CDK2AP2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs764347404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0094 0.0030 0.0032 0.0004 0.0035 0.0097 0.0018 0.0033 0.0014 0.0050 0.0022 0.0033 0 0.0025 0.0004 0.0013 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs112101439 rs112101439 1 1538 10 1/0 0,222,255 +rs2988203 (chr9:66513993 C/G) 9 66513993 C G No Alamut gene - other known genes: MYO5BP2 MYO5BP2 +rs62562634 (chr9:66960696 T/C) 9 66960696 T C Not on a known gene +. (chr9:66960786 T/C) 9 66960786 T C Not on a known gene +rs376475612 (chr9:66960789 G/A) 9 66960789 G A Not on a known gene +rs74435858 (chr9:66960890 T/C) 9 66960890 T C Not on a known gene +rs3004385 (chr9:66960913 T/C) 9 66960913 T C Not on a known gene +. 9 67291039 C T - AQP7P1 32048 Aquaporin 7 pseudogene 1 NR_002817.2 -1 3180 0 substitution upstream GRCh37 67291039 67291039 Chr9(GRCh37):g.67291039C>T -1547 -1547 NR_002817.2:n.-1547G>A p.? p.? 1 -1856 5' 74.2342 7.35828 0.95771 9.652 74.2342 7.35828 0.95771 9.652 0 0.000033 0.000000 0.000000 0.000000 0.000660 0.000000 0.000000 0.000000 0.000000 0.000660 1 0 0 0 1 0 0 0 0 30284 8446 826 300 1516 0 14772 3468 956 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 59 Genomes transition G A G>A 0.031 -0.682 194 PASS . . . . . . . . . . . . . . . . 0.14634146 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . UPSTREAM(MODIFIER||||AQP7P1|Non-coding_transcript|NON_CODING|NR_002817|) . . . . . . . -0.3050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.38 0.32 182 ENSG00000228522 . . . dist\x3d1547\x3bdist\x3d493905 dist\x3d1547\x3bdist\x3d488084 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.302e-05 0 0 0.0007 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs4603019 rs4603019 rs4603019 rs4603019 1 1538 10 1/0 0,255,255 +. 9 67793238 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793238 67793238 Chr9(GRCh37):g.67793238A>G 394 394 NR_027422.1:n.394T>C 2 101 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 transition T C T>C 0.236 -0.037 235 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.T179C:p.F60S . . . . 0.2631579 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F132L|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.7109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.000000 . . 0.000000 . . 1.0E-235 . . . . . . . . . 0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793240 G T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793240 67793240 Chr9(GRCh37):g.67793240G>T 392 392 NR_027422.1:n.392C>A 2 99 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36462 3396 5392 1000 5396 4398 15252 544 1084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 38 Exomes transversion C A C>A 0.236 -0.037 198 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.C177A:p.I59I . . . . 0.15789473 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S131Y|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.2099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM4007239\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793249 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793249 67793249 Chr9(GRCh37):g.67793249A>G 383 383 NR_027422.1:n.383T>C 2 90 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 transition T C T>C 0.236 -0.037 225 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.T168C:p.D56D . . . . 0.23255815 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M128T|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.2107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM4007240\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793251 C G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793251 67793251 Chr9(GRCh37):g.67793251C>G 381 381 NR_027422.1:n.381G>C 2 88 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.61998 0 0.000055 0.000000 0.000183 0.000000 0.000000 0.000000 0.000000 0.001838 0.000000 0.001838 2 0 1 0 0 0 0 1 0 36468 3428 5470 1002 5348 4408 15204 544 1064 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 38 Exomes transversion G C G>C 0.236 -0.037 219 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.G166C:p.D56H . . . . 0.21276596 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K127N|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.7122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.27 182 ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.000000 . . . . . . . . . . 0 5.484e-05 0.0002 0 0 0.0018 0 0 0 . . . . . . . . . . . . 0.000 0.000000 . . 0.000000 . . 1.0E-219 . . . . . . . . . 0.000 . . rs1060720 rs1060720 rs1060720 rs1060720 1 1538 10 1/0 0,255,255 +. 9 67793269 G A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793269 67793269 Chr9(GRCh37):g.67793269G>A 363 363 NR_027422.1:n.363C>T 2 70 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.43661 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38524 3606 6222 1022 5740 4710 15528 564 1132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 39 Exomes transition C T C>T 0.220 -0.037 216 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.C148T:p.R50W . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S121|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.7272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.07 . . . . . . . ID\x3dCOSM4007241\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . ENST00000377484 . . . 0.010000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . 0.000 0.000000 . . 0.010000 . . 1.0E-216 . . . . . . . . . 0.000 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793306 C A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793306 67793306 Chr9(GRCh37):g.67793306C>A 326 326 NR_027422.1:n.326G>T 2 33 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.1409 0 transversion G T G>T 0.028 0.125 177 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.G111T:p.K37N . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aTa|R109I|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.8114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.06 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.107 0.107000 . . 0.000000 . . 1.0E-177 . . . . . . . . . 0.107 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793311 T C - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793311 67793311 Chr9(GRCh37):g.67793311T>C 321 321 NR_027422.1:n.321A>G 2 28 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.51162 0 transition A G A>G 0.012 -1.651 255 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.A106G:p.N36D . . . . 0.34042552 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R107|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -1.5082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . ENST00000377484 . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.655 -1.655000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -1.655 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793315 G A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793315 67793315 Chr9(GRCh37):g.67793315G>A 317 317 NR_027422.1:n.317C>T 2 24 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.45582 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000063 1 0 0 0 0 0 1 0 0 40932 3784 7202 1072 6076 5076 15902 600 1220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 41 Exomes transition C T C>T 0.016 0.125 109 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.C102T:p.A34A . . . . 0.2 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P106L|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.3569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.5 0.22 182 ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.443e-05 0 0 0 0 6.289e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-109 . . . . . . . . . . . . . rs71265827 rs71265827 rs71265827 1 1538 10 1/0 0,255,255 +. 9 67793326 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793326 67793326 Chr9(GRCh37):g.67793326A>G 306 306 NR_027422.1:n.306T>C 2 13 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.969797 7.90172 0.000757546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44268 4170 8414 1140 6578 5464 16548 634 1320 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Exomes transition T C T>C 0.016 -1.651 244 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.T91C:p.Y31H . . . . 0.29268292 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S102|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -1.5040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . ID\x3dCOSM4007242\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . ENST00000377484 . . . 1.000000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -1.644 -1.644000 . . 1.000000 . . 1.0000000000000001E-244 . . . . . . . . . -1.644 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793327 C T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793327 67793327 Chr9(GRCh37):g.67793327C>T 305 305 NR_027422.1:n.305G>A 2 12 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.950309 7.64639 -0.00595599 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44218 4144 8416 1140 6578 5466 16530 628 1316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 45 Exomes transition G A G>A 0.020 0.125 238 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon2:c.G90A:p.E30E . . . . 0.27272728 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S102N|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.2) . . . . . . . -0.4230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793352 C T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793352 67793352 Chr9(GRCh37):g.67793352C>T 294-14 294-14 NR_027422.1:n.294-14G>A p.? p.? 2 1 -14 3' 82.7057 7.88334 0.967598 7.61998 0 3.40141 0.969699 0 -0.52212 transition G A G>A 0.016 0.125 188 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793353 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793353 67793353 Chr9(GRCh37):g.67793353A>G 294-15 294-15 NR_027422.1:n.294-15T>C p.? p.? 2 1 -15 3' 82.7057 7.88334 0.967598 7.61998 82.7057 VIII.78 0.965032 5.83727 0.0272115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43662 4022 8340 1126 6456 5444 16350 624 1300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Exomes transition T C T>C 0.012 -1.651 250 PASS . . . . . . . . . . . . . . . . 0.31111112 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.7461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793355 T A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793355 67793355 Chr9(GRCh37):g.67793355T>A 294-17 294-17 NR_027422.1:n.294-17A>T p.? p.? 2 1 -17 3' 82.7057 7.88334 0.967598 7.61998 82.7057 X.91 0.978318 XI.94 0.121483 67793355 -89.8529 transversion A T A>T 0.016 0.044 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793358 G T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793358 67793358 Chr9(GRCh37):g.67793358G>T 294-20 294-20 NR_027422.1:n.294-20C>A p.? p.? 2 1 -20 3' 82.7057 7.88334 0.967598 7.61998 82.7057 VII.62 0.963879 7.06234 -0.00919397 67793355 -20.2941 0.000043 0.000235 0.000000 0.000000 0.000153 0.000000 0.000000 0.000000 0.000000 0.000235 2 1 0 0 1 0 0 0 0 46878 4260 8560 1170 6556 5520 17604 1798 1410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.016 0.125 220 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.75 0.22 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.27e-05 0 0 0.0002 0 0 0 0 0.0048 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs6606220 rs6606220 rs6606220 rs6606220 1 1538 10 1/0 0,255,255 +. 9 67793366 A T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793366 67793366 Chr9(GRCh37):g.67793366A>T 294-28 294-28 NR_027422.1:n.294-28T>A p.? p.? 2 1 -28 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.36357 0 67793367 -5.96791 0.000063 0.000234 0.000000 0.000000 0.000153 0.000000 0.000056 0.000000 0.000000 0.000234 3 1 0 0 1 0 1 0 0 47378 4278 8574 1174 6520 5516 17798 2082 1436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.016 0.044 224 PASS . . . . . . . . . . . . . . . . 0.22916667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.72 0.28 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.278e-05 0 0 0.0002 0 0 0 0 0.0039 0.0006 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs6606221 rs6606221 rs6606221 rs6606221 1 1538 10 1/0 0,255,255 +rs76557206 9 67793377 G C - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793377 67793377 Chr9(GRCh37):g.67793377G>C 294-39 294-39 NR_027422.1:n.294-39C>G p.? p.? 2 1 -39 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.53622 0 67793374 -20.2941 rs76557206 no no 0 G 0.000000 0 transversion C G C>G 0.004 -1.651 203 PASS . . . . . . . . . . . . . . . . 0.17021276 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.7653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.78 0.22 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76557206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs76557206 rs76557206 1 1538 10 1/0 0,255,255 +. 9 67793391 G A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793391 67793391 Chr9(GRCh37):g.67793391G>A 294-53 294-53 NR_027422.1:n.294-53C>T p.? p.? 2 1 -53 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 8.01981 0 0.005175 0.010830 0.000000 0.017241 0.000000 0.000000 0.008671 0.000000 0.004000 0.017241 29 6 0 1 0 0 21 0 1 5604 554 162 58 142 0 2422 2016 250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 6 0 1 0 0 21 0 1 0 0 0 0 0 0 0 0 0 RF 57 Genomes transition C T C>T 0.012 0.125 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.77 0.23 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0108 0.0052 0 0.0172 0 0 0.0087 0.004 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . rs71265826 rs71265826 rs71265826 1 1538 10 1/0 0,255,255 +. 9 67793396 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793396 67793396 Chr9(GRCh37):g.67793396A>G 294-58 294-58 NR_027422.1:n.294-58T>C p.? p.? 2 1 -58 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.043 0 transition T C T>C 0.016 0.044 237 PASS . . . . . . . . . . . . . . . . 0.2682927 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.75 0.26 182 ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs76196504 rs76196504 1 1538 10 1/0 0,255,255 +. 9 67793400 C T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793400 67793400 Chr9(GRCh37):g.67793400C>T 294-62 294-62 NR_027422.1:n.294-62G>A p.? p.? 2 1 -62 3' 82.7057 7.88334 0.967598 7.61998 82.7057 7.88334 0.967598 7.19742 0 transition G A G>A 0.024 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796290171 9 67793870 G T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793870 67793870 Chr9(GRCh37):g.67793870G>T 293+27 293+27 NR_027422.1:n.293+27C>A p.? p.? 1 1 27 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.916486 5.91199 0 rs796290171 no no 0 G 0.000000 0 transversion C A C>A 0.091 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.3479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796223990 9 67793889 A G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution intron GRCh37 67793889 67793889 Chr9(GRCh37):g.67793889A>G 293+8 293+8 NR_027422.1:n.293+8T>C p.? p.? 1 1 8 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.958067 7.04192 0.0151233 rs796223990 no no 0 A 0.000000 0 transition T C T>C 0.087 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.2719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67793892 C A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution splice site GRCh37 67793892 67793892 Chr9(GRCh37):g.67793892C>A 293+5 293+5 NR_027422.1:n.293+5G>T p.? p.? 1 1 5 5' 83.6222 7.93332 0.916486 6.18659 71.2295 I.48 0.022246 0 -0.638446 Cryptic Acceptor Strongly Activated 67793879 0.000418 0.828093 0.004948 69.8413 transversion G T G>T 0.102 0.125 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . INTRON(MODIFIER||||FAM27B|Non-coding_transcript|NON_CODING|NR_027422|) . . . . . . . -0.2590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000236233 DQ594366 FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796359152 9 67793908 C G - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793908 67793908 Chr9(GRCh37):g.67793908C>G 282 282 NR_027422.1:n.282G>C 1 -12 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.916486 6.51417 0 rs796359152 no no 0 C 0.000000 0 transversion G C G>C 0.094 0.125 255 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon1:c.G67C:p.V23L . . . . 0.5 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgG/cgC|R94|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.1) . . . . . . . -0.8297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.460000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.107 0.107000 . . 0.460000 . . 1.0E-255 . . . . . . . . . 0.107 . . . . . . 1 1538 10 1/0 0,255,255 +rs796614575 9 67793922 C T - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793922 67793922 Chr9(GRCh37):g.67793922C>T 268 268 NR_027422.1:n.268G>A 1 -26 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.916486 6.43115 0 rs796614575 no no 0 C 0.000000 0 transition G A G>A 0.087 0.125 255 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon1:c.G53A:p.R18K . . . . 0.3888889 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 18.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G90S|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.1) . . . . . . . -0.9386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.2 . . . . . . . . . . . . . . . ENST00000377484 . . . 0.920000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.107 0.107000 . . 0.920000 . . 1.0E-255 . . . . . . . . . 0.107 . . . . . . 1 1538 10 1/0 0,255,255 +rs375326774 9 67793951 C A - FAM27B 23667 Family with sequence similarity 27, member B NR_027422.1 -1 703 0 substitution exon GRCh37 67793951 67793951 Chr9(GRCh37):g.67793951C>A 239 239 NR_027422.1:n.239G>T 1 -55 5' 83.6222 7.93332 0.916486 6.18659 83.6222 7.93332 0.916486 5.76601 0 rs375326774 no no 0 C 0.000000 0 transversion G T G>T 0.008 0.125 255 PASS . . . . . . . . . . . ENSG00000170215:ENST00000377484:exon1:c.G24T:p.T8T . . . . 0.4375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 16.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cTg|R80L|FAM27B|Non-coding_transcript|NON_CODING|NR_027422|NR_027422.ex.1) . . . . . . . -0.3990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000170215 . FAM27B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375326774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375326774 rs375326774 1 1538 10 1/0 0,255,255 +. 9 67930627 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67930627 67930627 Chr9(GRCh37):g.67930627G>A 319-37 319-37 NM_032250.3:c.319-37G>A p.? p.? 3 2 -37 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 New Acceptor Site 67930629 6.73286 0.166964 79.906 transition G A G>A 0.000 -0.602 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.4282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67930641 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67930641 67930641 Chr9(GRCh37):g.67930641G>A 319-23 319-23 NM_032250.3:c.319-23G>A p.? p.? 3 2 -23 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 transition G A G>A 0.000 -1.328 221 PASS . . . . . . . . . . . . . . . . 0.22 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.6635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67930645 C A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67930645 67930645 Chr9(GRCh37):g.67930645C>A 319-19 319-19 NM_032250.3:c.319-19C>A p.? p.? 3 2 -19 3' 72.3891 2.15552 0.001267 0 72.3891 1.44982 0.000856 0 -0.21726 transversion C A C>A 0.000 -0.198 180 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.1011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67930655 C T - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67930655 67930655 Chr9(GRCh37):g.67930655C>T 319-9 319-9 NM_032250.3:c.319-9C>T p.? p.? 3 2 -9 3' 72.3891 2.15552 0.001267 0 75.1009 2.01764 0.001842 0 0.142442 Cryptic Acceptor Weakly Activated 67930664 2.15552 0.001267 72.3891 2.01764 0.001842 75.1009 transition C T C>T 0.000 -0.037 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.3232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67930715 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67930715 67930715 Chr9(GRCh37):g.67930715G>A 370 370 NM_032250.3:c.370G>A p.Ala124Thr p.Ala124Thr 3 52 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Ankyrin repeat Ankyrin repeat-containing domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11008 408 2640 230 2172 1778 3366 100 314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 58 Exomes COSM6371059 Thyroid 0.002677 747 transition G A G>A 0.976 2.707 A Ala GCC 0.403 T Thr ACC 0.361 124 12 12 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C55 0.00 58.02 Deleterious 0 II.67 good 4.628E-2 0.1576 223 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon3:c.G370A:p.A124T . . . . 0.22222222 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.356 . @ . . . . . 1 0.640 . . 81.0 . . . . . . . . . . -0.1095 -0.303 -0.110 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.250 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.061 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.558 . . 0.638 . . . 0.674 0.372 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.472 . . 0.410 . . . . . . 0 . . . . . . 0.257 . 0.369 . HET 0.03 . . . . . . . . . . . . . VII.16 . ENST00000377477 I.95 I.95 . 0.030000 Q5TYW2 . . . . . 0.419 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . 1.081 1.081000 . . 0.030000 . . 1.0E-223 1.000 0.715 . 0.095 0.007 . 0.702 . 0.279 1.081 0.676 . . . . . 1 1538 10 1/0 0,246,255 +. 9 67930741 C T - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution synonymous exon GRCh37 67930741 67930741 Chr9(GRCh37):g.67930741C>T 396 396 NM_032250.3:c.396C>T p.Tyr132= p.Tyr132Tyr 3 78 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 Ankyrin repeat Ankyrin repeat-containing domain 0.000221 0.000000 0.000000 0.000000 0.000437 0.000000 0.000407 0.000000 0.000000 0.000437 3 0 0 0 1 0 2 0 0 13600 754 2748 244 2286 1650 4914 594 410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.031 -0.682 Y Tyr TAC 0.562 Y Tyr TAT 0.438 132 179 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon3:c.C396T:p.Y132Y . . . . 0.1125 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . -0.2753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.985e-05 0 0 0.0005 0 0 0 0 0 0.0008 0 0 0 0 0.0015 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs372309810 9 67930765 C T - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution synonymous exon GRCh37 67930765 67930765 Chr9(GRCh37):g.67930765C>T 420 420 NM_032250.3:c.420C>T p.Ala140= p.Ala140Ala 3 -73 5' 72.3493 7.98261 0.586567 II.43 72.3493 7.98261 0.586567 2.79637 0 Cryptic Acceptor Weakly Activated 67930774 3.53164 0.065027 68.6891 2.83026 0.093445 71.4009 Ankyrin repeat Ankyrin repeat-containing domain rs372309810 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14864 560 3392 276 2562 2016 5036 610 412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 59 Exomes transition C T C>T 0.063 -2.781 A Ala GCC 0.403 A Ala GCT 0.263 140 212 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon3:c.C420T:p.A140A . . . . 0.19178082 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.6227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372309810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs372309810 rs372309810 1 1538 10 1/0 0,248,255 +. 9 67930770 A G - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67930770 67930770 Chr9(GRCh37):g.67930770A>G 425 425 NM_032250.3:c.425A>G p.Tyr142Cys p.Tyr142Cys 3 -68 5' 72.3493 7.98261 0.586567 II.43 72.3493 7.98261 0.586567 3.35312 0 Cryptic Donor Strongly Activated 67930765 3.6e-05 48.0325 2.17887 0.020206 60.184 Ankyrin repeat Ankyrin repeat-containing domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16604 646 3696 312 2796 2230 5696 764 464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 56 Exomes transition A G A>G 0.000 -1.974 Y Tyr TAT 0.438 C Cys TGT 0.448 142 12 5 American pika -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 234.48 0.00 Tolerated 0.16 II.67 good 7.668E-1 0.6773 210 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon3:c.A425G:p.Y142C . . . . 0.18571429 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.159 . @ . . . . . 1 0.230 . . 70.0 . . . . . . . . . . -0.8314 -1.200 -0.831 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.039 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.141 0.005 . . 37 . 0.664 . . 0.570 . . . 0.246 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.764 . . 0.850 . . . . . . 0 . . . . . . 0.058 . 0.199 . HET 0.06 . . . . . . . . . . . . . 3.0796 . ENST00000377477 I.95 -3.91 . 0.150000 Q5TYW2 . . . . . 0.016 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -1.779 -1.779000 . . 0.150000 . . 1.0E-210 0.000 0.063 . 0.043 0.001 . 0.007 . 0.062 -1.779 -0.502 . . . . . 1 1538 10 1/0 0,249,255 +rs796379225 9 67934709 C G - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67934709 67934709 Chr9(GRCh37):g.67934709C>G 493-14 493-14 NM_032250.3:c.493-14C>G p.? p.? 4 3 -14 3' 85.5744 XI.09 0.972145 6.51783 83.1647 XI.04 0.971103 5.88283 -0.00768877 rs796379225 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36620 3936 5410 1024 4868 4670 15002 700 1010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 48 Exomes transversion C G C>G 0.000 -1.893 190 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.5594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs28553412 9 67934746 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution synonymous exon GRCh37 67934746 67934746 Chr9(GRCh37):g.67934746T>C 516 516 NM_032250.3:c.516T>C p.Phe172= p.Phe172Phe 4 24 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 7.07805 0 Ankyrin repeat Ankyrin repeat-containing domain rs28553412 no no 0 T 0.000000 0 COSM4163959 Thyroid 0.005355 747 transition T C T>C 0.362 1.174 F Phe TTT 0.454 F Phe TTC 0.546 172 180 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon4:c.T516C:p.F172F . . . . 0.115384616 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . 0.2170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.31 182 ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs28553412 . . . . . . ID\x3dCOSM4163959\x3bOCCURENCE\x3d4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . rs28553412 rs28553412 rs28553412 rs28553412 1 1538 10 1/0 0,255,255 +rs796212141 9 67934747 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67934747 67934747 Chr9(GRCh37):g.67934747G>A 517 517 NM_032250.3:c.517G>A p.Ala173Thr p.Ala173Thr 4 25 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 5.87672 0 Ankyrin repeat Ankyrin repeat-containing domain rs796212141 no no 0 G 0.000000 0 COSM4163960 Thyroid 0.005355 747 transition G A G>A 0.358 1.335 A Ala GCT 0.263 T Thr ACT 0.243 173 12 11 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 208.40 31.45 Deleterious 0 II.67 good 8.342E-2 0.1947 197 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon4:c.G517A:p.A173T . . . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 52.0 . . . . . . . . . . 0.1603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . ID\x3dCOSM4163960\x3bOCCURENCE\x3d4(thyroid) . . . . . VII.16 . ENST00000377477 I.95 I.95 . 0.000000 Q5TYW2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.081 1.081000 . . 0.000000 . . 1.0E-197 . . . . . . . . . 1.081 . . . . . . 1 1538 10 1/0 0,255,255 +. 9 67935881 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution synonymous exon GRCh37 67935881 67935881 Chr9(GRCh37):g.67935881T>C 606 606 NM_032250.3:c.606T>C p.Ala202= p.Ala202Ala 5 7 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.985908 2.75053 7.71041e-05 Ankyrin repeat Ankyrin repeat-containing domain 0.000161 0.000000 0.000000 0.000000 0.000000 0.000000 0.000342 0.000000 0.000000 0.000342 2 0 0 0 0 0 2 0 0 12398 4692 182 114 280 0 5848 954 328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 27 Genomes transition T C T>C 0.098 -0.602 A Ala GCT 0.263 A Ala GCC 0.403 202 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.T606C:p.A202A . . . . 0.375 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.5246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199709178 9 67935894 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67935894 67935894 Chr9(GRCh37):g.67935894G>A 619 619 NM_032250.3:c.619G>A p.Val207Ile p.Val207Ile 5 20 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.986758 2.1248 0.000364554 Ankyrin repeat Ankyrin repeat-containing domain rs199709178 yes no Frequency 1 G 0.000000 0 0.000169 0.000000 0.000000 0.000000 0.000000 0.000000 0.000352 0.000000 0.000000 0.000352 2 0 0 0 0 0 2 0 0 11806 4512 164 106 264 0 5688 780 292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 27 Genomes COSM2155398 Central nervous system 0.000416 2405 transition G A G>A 0.035 0.125 V Val GTA 0.114 I Ile ATA 0.163 207 12 2 Chimp 3 3 4 0 0 5.IX 5.II 84 111 29 C0 273.19 0.00 Tolerated 0.41 II.67 good 5.358E-1 0.4249 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.G619A:p.V207I . . . . 0.3846154 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 26.0 . . . . . . . . . . -0.8754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.28 182 ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.36 rs199709178 . . . . . . ID\x3dCOSM2155398\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . III.43 . ENST00000377477 I.64 0.693 . 0.460000 Q5TYW2 . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0004 0 . . . . -0.085 -0.085000 . . 0.460000 . . 1.0E-255 . . . . . . . . . -0.085 . . . . rs199709178 rs199709178 1 1538 10 1/0 0,255,255 +rs200427843 9 67935897 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67935897 67935897 Chr9(GRCh37):g.67935897T>C 622 622 NM_032250.3:c.622T>C p.Tyr208His p.Tyr208His 5 23 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.98568 2.91823 0 Ankyrin repeat Ankyrin repeat-containing domain rs200427843 yes no Frequency 1 T 0.000000 0 0.000054 0.000093 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000093 3 1 0 0 0 0 2 0 0 55712 10798 5428 1162 3094 6108 25262 2392 1468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.360 Y Tyr TAC 0.562 H His CAC 0.587 208 12 3 Frog 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 275.98 0.00 Tolerated 0.55 II.67 good 8.67E-1 0.6054 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.T622C:p.Y208H . . . . 0.37037036 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 27.0 . . . . . . . . . . -1.5788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.43 182 ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.57 rs200427843 . . . . . . . . . . . . II.92 . ENST00000377477 I.64 -1.59 . 0.530000 Q5TYW2 . . . . . . . . . 0.0002 2.275e-05 0 0 0 0 0 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . -1.055 -1.055000 . . 0.530000 . . 1.0E-255 . . . . . . . . . -1.055 . . . . rs200427843 rs200427843 1 1538 10 1/0 0,255,255 +. 9 67935954 G A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67935954 67935954 Chr9(GRCh37):g.67935954G>A 679 679 NM_032250.3:c.679G>A p.Ala227Thr p.Ala227Thr 5 -59 5' 87.5573 9.72159 0.994436 2.84572 87.5573 9.72159 0.994436 2.41877 0 Cryptic Acceptor Strongly Activated 67935961 1.55131 0.075012 77.5156 1.73001 0.085972 77.5156 Ankyrin repeat Ankyrin repeat-containing domain 0.000109 0.000106 0.000249 0.000000 0.000000 0.000000 0.000144 0.000000 0.000000 0.000249 5 1 1 0 0 0 3 0 0 45774 9422 4014 1016 2476 5118 20898 1662 1168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 A Ala GCT 0.263 T Thr ACT 0.243 227 12 2 Chimp 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 272.33 0.00 Tolerated 0.6 II.67 good 9.531E-1 0.519 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.G679A:p.A227T . . . . 0.4 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.048 . . 30.0 . . . . . . . . . . -1.6692 -1.777 -1.669 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.047 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.460 . . 0.277 . . . 0.127 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 . . . . . . 0.065 . 0.112 . HET 0.1 . . . . . . . . . . . . . III.82 . ENST00000377477 I.64 -3.29 . 0.610000 Q5TYW2 . . . . . 0.012 . . . 0 8.515e-05 0.0003 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.246 . -0.868 -0.868000 . . 0.610000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.083 . 0.002 -0.868 -2.712 . . . . . 1 1538 10 1/0 0,255,255 +. 9 67935957 C A - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution missense exon GRCh37 67935957 67935957 Chr9(GRCh37):g.67935957C>A 682 682 NM_032250.3:c.682C>A p.Gln228Lys p.Gln228Lys 5 -56 5' 87.5573 9.72159 0.994436 2.84572 87.5573 9.72159 0.994436 2.1492 0 Ankyrin repeat-containing domain 0.000022 0.000106 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000106 1 1 0 0 0 0 0 0 0 46100 9410 4138 1024 2524 5172 21014 1626 1192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.247 Q Gln CAA 0.256 K Lys AAA 0.425 228 12 4 Frog 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 243.92 0.00 Tolerated 1 II.67 good 9.695E-1 0.5542 255 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon5:c.C682A:p.Q228K . . . . 0.37931034 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.120 . . 29.0 . . . . . . . . . . -0.9644 -1.180 -0.964 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.047 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.436 . . 0.451 . . . 0.290 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.484 . . 0.483 . . . . . . 0 . . . . . . 0.008 . 0.064 . HET 0.16 . . . . . . . . . . . . . 0.6949 . ENST00000377477 I.64 -3.29 . 1.000000 Q5TYW2 . . . . . 0.030 . . . 0 0 0 0 0 0 0 0 0 0.0002 9.413e-05 0 0 0 0 0 0 . . 0.246 . -0.802 -0.802000 . . 1.000000 . . 1.0E-255 0.030 0.202 . 0.083 0.005 . 0.133 . 0.059 -0.802 -0.401 . . . . . 1 1538 10 1/0 0,255,255 +rs796585045 9 67938656 C G - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution stop gain exon GRCh37 67938656 67938656 Chr9(GRCh37):g.67938656C>G 791 791 NM_032250.3:c.791C>G p.Ser264* p.Ser264* 6 -3 5' 94.6711 X.63 0.998516 0 91.6164 10.0647 0.998457 0 -0.0324995 rs796585045 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29582 8456 796 280 1560 0 14236 3338 916 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 44 Genomes transversion C G C>G 0.197 0.125 S Ser TCA 0.148 * * TGA 0.489 264 186 PASS . . . . . . . . . . . ENSG00000196774:ENST00000377477:exon6:c.C791G:p.S264X . . . . 0.12658228 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.771 . @ . . . . . 0 0.286 . . 79.0 . . . . . . . . . . -0.0801 -0.506 -0.080 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.153 @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.077 . . . LowAF 0.01 . . . . . . . . . . . . . III.92 . ENST00000377477 I.32 0.361 . 0.300000 . 0.0001 0.054 . . . 0.028 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.246 . 0.139 0.139000 . . 0.300000 . . 1.0E-186 0.033 0.204 . 0.062 0.005 . 0.090 . 0.008 0.139 -0.655 . . . . . 1 1538 10 1/0 0,238,255 +rs200761515 9 67938664 A T - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67938664 67938664 Chr9(GRCh37):g.67938664A>T 793+6 793+6 NM_032250.3:c.793+6A>T p.? p.? 6 6 6 5' 94.6711 X.63 0.998516 0 100 X.83 0.998903 1.0993 0.0217395 rs200761515 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.248 0.044 113 PASS . . . . . . . . . . . . . . . . 0.16455697 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.0981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.18 182 ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs796241573 9 67938672 T G - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67938672 67938672 Chr9(GRCh37):g.67938672T>G 793+14 793+14 NM_032250.3:c.793+14T>G p.? p.? 6 6 14 5' 94.6711 X.63 0.998516 0 94.6711 X.63 0.998516 0 0 rs796241573 no no 0 T 0.000000 0 transversion T G T>G 0.000 -0.360 202 PASS . . . . . . . . . . . . . . . . 0.16455697 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.3040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs796462162 9 67938731 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67938731 67938731 Chr9(GRCh37):g.67938731T>C 793+73 793+73 NM_032250.3:c.793+73T>C p.? p.? 6 6 73 5' 94.6711 X.63 0.998516 0 94.6711 X.63 0.998516 0 0 Cryptic Donor Strongly Activated 67938731 5.46315 0.409176 79.0014 7.30445 0.82923 78.3054 rs796462162 no no 0 T 0.000000 0 transition T C T>C 0.020 0.044 215 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.3158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +rs796852218 9 67938749 T C - ANKRD20A1 23665 Ankyrin repeat domain 20 family, member A1 NM_032250.3 1 3511 2472 NP_115626.2 Q5TYW2 substitution intron GRCh37 67938749 67938749 Chr9(GRCh37):g.67938749T>C 793+91 793+91 NM_032250.3:c.793+91T>C p.? p.? 6 6 91 5' 94.6711 X.63 0.998516 0 94.6711 X.63 0.998516 0 0 rs796852218 no no 0 T 0.000000 0 transition T C T>C 0.008 0.770 194 PASS . . . . . . . . . . . . . . . . 0.14583333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.1105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196774 ANKRD20A3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr9:67977473 T/G) 9 67977473 T G Not on a known gene +. (chr9:67977500 A/G) 9 67977500 A G Not on a known gene +rs368172308 9 68409494 T G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409494 68409494 Chr9(GRCh37):g.68409494T>G 772 772 XR_246700.1:n.772T>G 1 -781 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs368172308 no no 0 0.000000 0 transversion T G T>G 0.020 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.35897437 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.46 0.58 182 ENSG00000225411 AK308561 . . . dist\x3d439201\x3bdist\x3d5814 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs368172308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77169720 rs368172308 1 1538 10 1/0 0,255,255 +rs112354844 9 68409521 A G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409521 68409521 Chr9(GRCh37):g.68409521A>G 799 799 XR_246700.1:n.799A>G 1 -754 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Acceptor Strongly Activated 68409530 3.56306 0.066996 71.3216 4.13777 0.085349 71.4451 rs112354844 no no 0 0.000000 0 transition A G A>G 0.016 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.3655914 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.41 0.57 182 ENSG00000225411 AK308561 . . . dist\x3d439228\x3bdist\x3d5787 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs112354844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112354844 rs112354844 1 1538 10 1/0 0,252,255 +rs113576738 9 68409533 G T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409533 68409533 Chr9(GRCh37):g.68409533G>T 811 811 XR_246700.1:n.811G>T 1 -742 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs113576738 no no 0 0.000000 0 transversion G T G>T 0.012 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.34020618 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.4 0.51 182 ENSG00000225411 AK308561 . . . dist\x3d439240\x3bdist\x3d5775 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs113576738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113576738 rs113576738 1 1538 10 1/0 0,248,255 +rs111658015 9 68409539 C G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409539 68409539 Chr9(GRCh37):g.68409539C>G 817 817 XR_246700.1:n.817C>G 1 -736 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs111658015 no no 0 0.000000 0 transversion C G C>G 0.024 0.125 105 PASS . . . . . . . . . . . . . . . . 0.17204301 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.43 0.56 182 ENSG00000225411 AK308561 . . . dist\x3d439246\x3bdist\x3d5769 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs111658015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-105 . . . . . . . . . . . . . . rs111658015 rs111658015 1 1538 10 1/0 0,245,255 +rs112081340 9 68409565 G A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409565 68409565 Chr9(GRCh37):g.68409565G>A 843 843 XR_246700.1:n.843G>A 1 -710 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs112081340 no no 0 0.000000 0 transition G A G>A 0.055 0.125 180 PASS . . . . . . . . . . . . . . . . 0.11340206 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.44 0.52 182 ENSG00000225411 AK308561 . . . dist\x3d439272\x3bdist\x3d5743 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs112081340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs112081340 rs112081340 1 1538 10 1/0 0,229,255 +rs796801476 9 68409572 G A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409572 68409572 Chr9(GRCh37):g.68409572G>A 850 850 XR_246700.1:n.850G>A 1 -703 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796801476 no no 0 0.000000 0 transition G A G>A 0.016 -1.489 134 PASS . . . . . . . . . . . . . . . . 0.22 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439279\x3bdist\x3d5736 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-134 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs796425780 9 68409576 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409576 68409576 Chr9(GRCh37):g.68409576C>T 854 854 XR_246700.1:n.854C>T 1 -699 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796425780 no no 0 0.000000 0 transition C T C>T 0.008 0.125 177 PASS . . . . . . . . . . . . . . . . 0.10784314 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439283\x3bdist\x3d5732 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +rs199507432 9 68409580 G A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409580 68409580 Chr9(GRCh37):g.68409580G>A 858 858 XR_246700.1:n.858G>A 1 -695 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs199507432 no no 0 0.000000 0 transition G A G>A 0.004 0.125 253 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.43 0.52 182 ENSG00000225411 AK308561 . . . dist\x3d439287\x3bdist\x3d5728 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs199507432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . rs199507432 rs199507432 1 1538 10 1/0 0,248,255 +rs760310803 9 68409584 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409584 68409584 Chr9(GRCh37):g.68409584C>T 862 862 XR_246700.1:n.862C>T 1 -691 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Acceptor Strongly Activated 68409597 I.21 0.057366 70.1777 2.41398 0.197388 73.2933 rs760310803 no no 0 0.000000 0 transition C T C>T 0.004 -1.489 162 PASS . . . . . . . . . . . . . . . . 0.185567 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439291\x3bdist\x3d5724 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs760310803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-162 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs772773000 9 68409590 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409590 68409590 Chr9(GRCh37):g.68409590C>T 868 868 XR_246700.1:n.868C>T 1 -685 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs772773000 no no 0 0.000000 0 transition C T C>T 0.024 0.125 213 PASS . . . . . . . . . . . . . . . . 0.19417475 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 103.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439297\x3bdist\x3d5718 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs772773000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs763706265 9 68409592 G T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409592 68409592 Chr9(GRCh37):g.68409592G>T 870 870 XR_246700.1:n.870G>T 1 -683 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Acceptor Strongly Activated 68409597 I.21 0.057366 70.1777 2.64804 0.458522 76.6356 rs763706265 no no 0 0.000000 0 transversion G T G>T 0.024 0.125 171 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439299\x3bdist\x3d5716 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs74192497 9 68409600 C A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409600 68409600 Chr9(GRCh37):g.68409600C>A 878 878 XR_246700.1:n.878C>A 1 -675 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs74192497 no no 0 0.000000 0 transversion C A C>A 0.016 -1.732 245 PASS . . . . . . . . . . . . . . . . 0.29 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6531 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.48 0.57 182 ENSG00000225411 AK308561 . . . dist\x3d439307\x3bdist\x3d5708 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs74192497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . rs74192497 rs74192497 1 1538 10 1/0 0,243,255 +rs753340519 9 68409602 G C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409602 68409602 Chr9(GRCh37):g.68409602G>C 880 880 XR_246700.1:n.880G>C 1 -673 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs753340519 no no 0 0.000000 0 transversion G C G>C 0.020 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.41414142 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439309\x3bdist\x3d5706 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs753340519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs200340791 9 68409722 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409722 68409722 Chr9(GRCh37):g.68409722C>T 1000 1000 XR_246700.1:n.1000C>T 1 -553 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Acceptor Strongly Activated 68409725 0.000668 66.9596 0.0446811 0.000899 60.7829 rs200340791 no no 0 0.000000 0 transition C T C>T 0.039 0.125 221 PASS . . . . . . . . . . . . . . . . 0.2145749 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 247.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.59 0.63 182 ENSG00000225411 AK308561 . . . dist\x3d439429\x3bdist\x3d5586 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200340791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs200340791 rs200340791 1 1538 10 1/0 0,197,255 +rs80207175 9 68409731 A G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409731 68409731 Chr9(GRCh37):g.68409731A>G 1009 1009 XR_246700.1:n.1009A>G 1 -544 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs80207175 no no 0 0.000000 0 transition A G A>G 0.012 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.45041323 . . @ 109 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 242.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.59 0.68 182 ENSG00000225411 AK308561 . . . dist\x3d439438\x3bdist\x3d5577 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs80207175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80207175 rs80207175 1 1538 10 1/0 0,216,236 +rs796552013 9 68409742 T C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409742 68409742 Chr9(GRCh37):g.68409742T>C 1020 1020 XR_246700.1:n.1020T>C 1 -533 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796552013 no no 0 0.000000 0 transition T C T>C 0.004 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 80 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 248.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.58 0.66 182 ENSG00000225411 AK308561 . . . dist\x3d439449\x3bdist\x3d5566 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4077229 rs4077229 rs4077229 rs4077229 1 1538 10 1/0 0,206,250 +rs73649016 9 68409745 C G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409745 68409745 Chr9(GRCh37):g.68409745C>G 1023 1023 XR_246700.1:n.1023C>G 1 -530 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 New Donor Site 68409744 0.788513 0.045583 67.4494 rs73649016 yes no Frequency/1000G 2 0.000000 0 0.444688 0.450100 0.464200 0.435500 0.432400 0.438000 transversion C G C>G 0.004 -1.812 245 PASS . . . . . 0.45 0.44 0.44 0.44 0.43 0.46 . . . . . 0.62249 . . @ 155 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 249.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . 0.4447 . . . 0.56 0.57 182 ENSG00000225411 AK308561 . . . dist\x3d439452\x3bdist\x3d5563 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs73649016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . rs73649016 rs73649016 rs73649016 1 1538 10 1/0 0,226,223 +rs796472066 9 68409778 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409778 68409778 Chr9(GRCh37):g.68409778C>T 1056 1056 XR_246700.1:n.1056C>T 1 -497 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796472066 no no 0 0.000000 0 transition C T C>T 0.004 -1.489 186 PASS . . . . . . . . . . . . . . . . 0.12456747 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 289.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439485\x3bdist\x3d5530 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs202031579 9 68409783 A C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409783 68409783 Chr9(GRCh37):g.68409783A>C 1061 1061 XR_246700.1:n.1061A>C 1 -492 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs202031579 no no 0 0.000000 0 transversion A C A>C 0.012 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.58364314 . . @ 157 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 269.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.53 0.57 182 ENSG00000225411 AK308561 . . . dist\x3d439490\x3bdist\x3d5525 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs202031579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs202031579 rs202031579 1 1538 10 1/0 0,221,229 +rs79786341 9 68409789 G C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409789 68409789 Chr9(GRCh37):g.68409789G>C 1067 1067 XR_246700.1:n.1067G>C 1 -486 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs79786341 no no 0 0.000000 0 transversion G C G>C 0.031 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.7364341 . . @ 190 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 258.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . 0.54 0.5 182 ENSG00000225411 AK308561 . . . dist\x3d439496\x3bdist\x3d5519 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs79786341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79786341 rs79786341 1 1538 10 1/0 0,229,228 +. 9 68409790 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409790 68409790 Chr9(GRCh37):g.68409790C>T 1068 1068 XR_246700.1:n.1068C>T 1 -485 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 transition C T C>T 0.039 0.125 175 PASS . . . . . . . . . . . . . . . . 0.10181818 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 275.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439497\x3bdist\x3d5518 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs796989686 9 68409808 T C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409808 68409808 Chr9(GRCh37):g.68409808T>C 1086 1086 XR_246700.1:n.1086T>C 1 -467 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796989686 no no 0 0.000000 0 transition T C T>C 0.142 0.125 139 PASS . . . . . . . . . . . . . . . . 0.18324608 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 191.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439515\x3bdist\x3d5500 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-139 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 9 68409818 C G - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409818 68409818 Chr9(GRCh37):g.68409818C>G 1096 1096 XR_246700.1:n.1096C>G 1 -457 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 Cryptic Donor Strongly Activated 68409813 5.96188 0.210411 66.0711 9.04567 0.837405 78.7671 transversion C G C>G 0.213 0.125 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 209.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439525\x3bdist\x3d5490 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,195,255 +rs76880242 9 68409858 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409858 68409858 Chr9(GRCh37):g.68409858C>T 1136 1136 XR_246700.1:n.1136C>T 1 -417 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs76880242 no no 0 0.000000 0 transition C T C>T 0.217 0.125 252 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intergenic . . . @ . . . 0.54 0.33 182 ENSG00000225411 AK308561 . . . dist\x3d439565\x3bdist\x3d5450 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs76880242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . rs76880242 rs76880242 1 1538 10 1/0 0,231,255 +rs373421059 9 68409865 G A - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409865 68409865 Chr9(GRCh37):g.68409865G>A 1143 1143 XR_246700.1:n.1143G>A 1 -410 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs373421059 no no 0 0.000000 0 transition G A G>A 0.146 0.125 238 PASS . . . . . . . . . . . . . . . . 0.26612905 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 124.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439572\x3bdist\x3d5443 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs373421059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . rs373421059 rs373421059 1 1538 10 1/0 0,233,255 +rs78838824 9 68409869 C T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409869 68409869 Chr9(GRCh37):g.68409869C>T 1147 1147 XR_246700.1:n.1147C>T 1 -406 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs78838824 no no 0 0.000000 0 transition C T C>T 0.094 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41463414 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 123.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intergenic . . . @ . . . 0.54 0.33 182 ENSG00000225411 AK308561 . . . dist\x3d439576\x3bdist\x3d5439 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs78838824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78838824 rs78838824 1 1538 10 1/0 0,250,255 +rs796254397 9 68409872 A C - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution exon GRCh37 68409872 68409872 Chr9(GRCh37):g.68409872A>C 1150 1150 XR_246700.1:n.1150A>C 1 -403 5' 87.6072 8.55395 0.972284 5.99754 87.6072 8.55395 0.972284 5.99754 0 rs796254397 no no 0 0.000000 0 transversion A C A>C 0.059 0.125 250 PASS . . . . . . . . . . . . . . . . 0.30769232 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intergenic . . . @ . . . . . . ENSG00000225411 AK308561 . . . dist\x3d439579\x3bdist\x3d5436 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs146147878 9 68415354 G T - LINC00537 43654 Long intergenic non-protein coding RNA 537 XR_246700.1 1 4227 0 substitution downstream GRCh37 68415354 68415354 Chr9(GRCh37):g.68415354G>T *591 *591 XR_246700.1:n.*591G>T p.? p.? 2 3266 3' 80.1878 6.53351 0.694337 5.1764 80.1878 6.53351 0.694337 5.1764 0 Cryptic Acceptor Strongly Activated 68415363 2.43187 0.001283 67.2266 4.36763 0.01596 72.6794 rs146147878 yes no Frequency 1 0.000000 0 0.001072 0.000287 0.000533 0.001658 0.000609 0.000434 0.001283 0.006849 0.000000 0.006849 32 1 2 2 2 1 18 6 0 29858 3484 3750 1206 3282 2306 14032 876 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 1 2 2 2 1 18 6 0 0 0 0 0 0 0 0 0 0 RF 80 Exomes transversion G T G>T 0.201 0.205 178 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 92.0 . . . . . . . . . . 0.0204 . . . . . . . . 3.004e-03 . . . 0.0091 0.0103 0.0083 0.0135 0.0236 0.0094 0.0185 0.0185 0.0107 0.0121 0.0102 0.0069 0.0222 0.0114 0 0.0204 . . . . . . ncRNA_exonic downstream ncRNA_exonic . . . @ . . . 0.51 0.17 182 ENSG00000266017 BC080605 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs146147878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0.0005 0.0017 0.0006 0.0068 0.0013 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs146147878 rs146147878 1 1538 10 1/0 0,231,255 +rs146147878 9 68415354 G T - MIR4477A 41859 MicroRNA 4477a NR_039688.1 -1 81 0 substitution exon GRCh37 68415354 68415354 Chr9(GRCh37):g.68415354G>T 35 35 NR_039688.1:n.35C>A 1 rs146147878 yes no Frequency 1 0.000000 0 0.001072 0.000287 0.000533 0.001658 0.000609 0.000434 0.001283 0.006849 0.000000 0.006849 32 1 2 2 2 1 18 6 0 29858 3484 3750 1206 3282 2306 14032 876 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 1 2 2 2 1 18 6 0 0 0 0 0 0 0 0 0 0 RF 80 Exomes transversion C A C>A 0.201 0.205 178 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 92.0 . . . . . . . . . . 0.0204 . . . . . . . . 3.004e-03 . . . 0.0091 0.0103 0.0083 0.0135 0.0236 0.0094 0.0185 0.0185 0.0107 0.0121 0.0102 0.0069 0.0222 0.0114 0 0.0204 . . . . . . ncRNA_exonic downstream ncRNA_exonic . . . @ . . . 0.51 0.17 182 ENSG00000266017 BC080605 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs146147878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0.0005 0.0017 0.0006 0.0068 0.0013 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs146147878 rs146147878 1 1538 10 1/0 0,231,255 +rs146147878 9 68415354 G T - MIR4477B 41898 MicroRNA 4477b NR_039689.1 1 81 0 substitution exon GRCh37 68415354 68415354 Chr9(GRCh37):g.68415354G>T 47 47 NR_039689.1:n.47G>T 1 rs146147878 yes no Frequency 1 0.000000 0 0.001072 0.000287 0.000533 0.001658 0.000609 0.000434 0.001283 0.006849 0.000000 0.006849 32 1 2 2 2 1 18 6 0 29858 3484 3750 1206 3282 2306 14032 876 922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 1 2 2 2 1 18 6 0 0 0 0 0 0 0 0 0 0 RF 80 Exomes transversion G T G>T 0.201 0.205 178 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 92.0 . . . . . . . . . . 0.0204 . . . . . . . . 3.004e-03 . . . 0.0091 0.0103 0.0083 0.0135 0.0236 0.0094 0.0185 0.0185 0.0107 0.0121 0.0102 0.0069 0.0222 0.0114 0 0.0204 . . . . . . ncRNA_exonic downstream ncRNA_exonic . . . @ . . . 0.51 0.17 182 ENSG00000266017 BC080605 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs146147878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0.0005 0.0017 0.0006 0.0068 0.0013 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs146147878 rs146147878 1 1538 10 1/0 0,231,255 +. 9 68427867 A T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68427867 68427867 Chr9(GRCh37):g.68427867A>T 1387 1387 NR_033907.2:n.1387T>A 9 28 3' 72.3983 I.32 0.001338 0 72.3983 I.32 0.001338 0 0 transversion T A T>A 1.000 2.869 187 PASS . . . . . . . . . . . . . . . . 0.12941177 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 85.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Agc|C463S|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.9) . . . . . . . 0.9586 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs80085886 9 68427876 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68427876 68427876 Chr9(GRCh37):g.68427876C>T 1378 1378 NR_033907.2:n.1378G>A 9 19 3' 72.3983 I.32 0.001338 0 72.3983 I.32 0.001108 0 -0.0572995 rs80085886 yes no Frequency 1 0.000000 0 transition G A G>A 1.000 3.514 195 PASS . . . . . . . . . . . . . . . . 0.20481928 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 83.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D460N|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.9) . . . . . . . 0.9369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.49 0.3 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80085886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs80085886 rs80085886 1 1538 10 1/0 0,245,255 +rs4568707 9 68427877 G A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68427877 68427877 Chr9(GRCh37):g.68427877G>A 1377 1377 NR_033907.2:n.1377C>T 9 18 3' 72.3983 I.32 0.001338 0 72.3983 I.32 0.001833 0 0.123318 rs4568707 yes no Frequency 1 0.000000 0 transition C T C>T 0.992 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.49382716 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A459|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.9) . . . . . . . 0.5459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.45 0.26 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4568707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4066495 rs4066495 rs4066495 rs4066495 1 1538 10 1/0 0,255,255 +rs879222145 9 68427892 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68427892 68427892 Chr9(GRCh37):g.68427892T>C 1362 1362 NR_033907.2:n.1362A>G 9 3 3' 72.3983 I.32 0.001338 0 72.3983 1.22627 0.000692 0 -0.222345 rs879222145 no no 0 0.000000 0 transition A G A>G 1.000 0.770 212 PASS . . . . . . . . . . . . . . . . 0.19178082 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R454|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.9) . . . . . . . 0.7222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs4006819 rs4006819 . . 1 1538 10 1/0 0,248,255 +rs74370697 9 68427905 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68427905 68427905 Chr9(GRCh37):g.68427905T>C 1360-11 1360-11 NR_033907.2:n.1360-11A>G p.? p.? 9 8 -11 3' 72.3983 I.32 0.001338 0 72.67 2.49874 0.002898 0 0.610649 Cryptic Acceptor Strongly Activated 68427894 I.32 0.001338 72.3983 2.49874 0.002898 72.67 rs74370697 no no 0 0.000000 0 transition A G A>G 0.071 -0.198 218 PASS . . . . . . . . . . . . . . . . 0.20967741 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.1137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.49 0.35 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74370697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . rs4006820 rs4006820 rs74370697 rs74370697 1 1538 10 1/0 0,255,255 +. 9 68427909 G T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68427909 68427909 Chr9(GRCh37):g.68427909G>T 1360-15 1360-15 NR_033907.2:n.1360-15C>A p.? p.? 9 8 -15 3' 72.3983 I.32 0.001338 0 72.3983 0.812416 0.0002 0 -0.436689 transversion C A C>A 0.039 -0.198 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.2219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2554495 rs2554495 . . 1 1538 10 1/0 0,251,255 +rs78642457 9 68427942 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68427942 68427942 Chr9(GRCh37):g.68427942T>C 1360-48 1360-48 NR_033907.2:n.1360-48A>G p.? p.? 9 8 -48 3' 72.3983 I.32 0.001338 0 72.3983 I.32 0.001338 0 0 68427942 -75.9813 rs78642457 yes no Frequency 1 0.000000 0 transition A G A>G 0.008 0.286 132 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.3801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.38 0.26 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78642457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-132 . . . . . . . . . . . . . . rs78642457 rs78642457 1 1538 10 1/0 0,255,255 +rs146972178 9 68430269 T A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430269 68430269 Chr9(GRCh37):g.68430269T>A 1158-8 1158-8 NR_033907.2:n.1158-8A>T p.? p.? 7 6 -8 3' 76.2123 7.28726 0.830359 2.45928 81.3919 8.14304 0.961409 4.14867 0.114407 Cryptic Acceptor Strongly Activated 68430261 7.28726 0.830359 76.2123 8.14304 0.961409 81.3919 rs146972178 no no 0 0.000000 0 transversion A T A>T 0.000 -0.521 249 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 310.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.1185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.57 0.42 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146972178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . rs77164210 rs146972178 1 1538 10 1/0 0,195,249 +rs139686748 9 68430310 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430310 68430310 Chr9(GRCh37):g.68430310C>T 1158-49 1158-49 NR_033907.2:n.1158-49G>A p.? p.? 7 6 -49 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.36387 0 rs139686748 no no 0 0.000000 0 transition G A G>A 0.000 0.367 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 351.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.0078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.43 0.41 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs139686748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs4122427 rs4122427 rs4122427 rs139686748 1 1538 10 1/0 0,173,255 +rs80235869 9 68430324 G A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430324 68430324 Chr9(GRCh37):g.68430324G>A 1158-63 1158-63 NR_033907.2:n.1158-63C>T p.? p.? 7 6 -63 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.79474 0 Cryptic Acceptor Strongly Activated 68430317 3.4e-05 63.5199 0.114003 9.5e-05 65.0306 rs80235869 no no 0 0.000000 0 transition C T C>T 0.000 -0.521 213 PASS . . . . . . . . . . . . . . . . 0.19277108 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 332.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.4098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.47 0.32 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200373473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs11940164 rs11940164 rs11940164 rs11940164 1 1538 10 1/0 0,183,255 +rs75174046 9 68430325 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430325 68430325 Chr9(GRCh37):g.68430325T>C 1158-64 1158-64 NR_033907.2:n.1158-64A>G p.? p.? 7 6 -64 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.32365 0 rs75174046 no no 0 0.000000 0 transition A G A>G 0.000 -0.037 190 PASS . . . . . . . . . . . . . . . . 0.13529412 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 340.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.0736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.44 0.36 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs138372927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . rs75174046 rs138372927 1 1538 10 1/0 0,177,255 +rs4415994 9 68430338 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68430338 68430338 Chr9(GRCh37):g.68430338C>T 1158-77 1158-77 NR_033907.2:n.1158-77G>A p.? p.? 7 6 -77 3' 76.2123 7.28726 0.830359 2.45928 76.2123 7.28726 0.830359 2.30708 0 rs4415994 no no 0 0.000000 0 transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.5063291 . . @ 160 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 316.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.3295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.41 0.38 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4415994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28629891 rs28629891 rs4415994 rs201250402 1 1538 10 1/0 0,213,234 +rs62543825 9 68438543 G C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68438543 68438543 Chr9(GRCh37):g.68438543G>C 1055+15 1055+15 NR_033907.2:n.1055+15C>G p.? p.? 5 5 15 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.859886 2.90699 0 New Acceptor Site 68438542 0.101818 0.003521 80.3734 rs62543825 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.5508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.49 0.23 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62543825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62543825 rs62543825 rs62543825 rs62543825 1 1538 10 1/0 0,255,255 +. 9 68438549 G A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68438549 68438549 Chr9(GRCh37):g.68438549G>A 1055+9 1055+9 NR_033907.2:n.1055+9C>T p.? p.? 5 5 9 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.859886 2.12796 0 transition C T C>T 0.307 -0.117 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . -0.0221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs3087992 rs3087992 rs3087992 rs3087992 1 1538 10 1/0 0,255,255 +. 9 68438551 C G - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68438551 68438551 Chr9(GRCh37):g.68438551C>G 1055+7 1055+7 NR_033907.2:n.1055+7G>C p.? p.? 5 5 7 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.911985 1.64094 0.0201961 transversion G C G>C 0.614 -0.117 178 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . 0.0901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 68438552 A G - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution intron GRCh37 68438552 68438552 Chr9(GRCh37):g.68438552A>G 1055+6 1055+6 NR_033907.2:n.1055+6T>C p.? p.? 5 5 6 5' 79.6441 7.80624 0.859886 II.58 73.8655 5.41579 0.584557 0.645881 -0.23299 transition T C T>C 0.858 1.093 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|) . . . . . . . 0.6985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs202077200 9 68438558 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438558 68438558 Chr9(GRCh37):g.68438558C>T 1055 1055 NR_033907.2:n.1055G>A 5 -1 5' 79.6441 7.80624 0.859886 II.58 67.508 1.92889 0.060695 0 -0.611566 rs202077200 no no 0 0.000000 0 transition G A G>A 1.000 1.335 214 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R352K|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.8850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.55 0.4 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202077200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs202077200 rs202077200 1 1538 10 1/0 0,255,255 +. 9 68438562 T A - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438562 68438562 Chr9(GRCh37):g.68438562T>A 1051 1051 NR_033907.2:n.1051A>T 5 -5 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.844449 2.23899 -0.00598413 transversion A T A>T 1.000 1.174 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 48.0 . . STOP_GAINED(HIGH|NONSENSE|Aga/Tga|R351*|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.7271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 68438563 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438563 68438563 Chr9(GRCh37):g.68438563T>C 1050 1050 NR_033907.2:n.1050A>G 5 -6 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.806658 2.41171 -0.0206337 transition A G A>G 1.000 1.255 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q350|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.6105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 68438588 G T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438588 68438588 Chr9(GRCh37):g.68438588G>T 1025 1025 NR_033907.2:n.1025C>A 5 -31 5' 79.6441 7.80624 0.859886 II.58 79.6441 7.80624 0.859886 1.93068 0 Cryptic Donor Strongly Activated 68438591 0.000887 58.7333 3.84709 0.18668 68.6158 transversion C A C>A 0.984 3.192 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S342Y|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.7878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62543828 9 68438639 G T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438639 68438639 Chr9(GRCh37):g.68438639G>T 974 974 NR_033907.2:n.974C>A 5 45 3' 92.9953 11.0214 0.986563 IV.98 92.9953 11.0214 0.986563 5.02273 0 rs62543828 yes no Frequency 1 0.000000 0 transversion C A C>A 0.992 0.367 255 PASS . . . . . . . . . . . . . . . . 0.74509805 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cAt|P325H|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.1893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.5 0.49 182 ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62543828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62543828 rs62543828 rs62543828 rs62543828 1 1538 10 1/0 0,255,255 +. 9 68438653 T C - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438653 68438653 Chr9(GRCh37):g.68438653T>C 960 960 NR_033907.2:n.960A>G 5 31 3' 92.9953 11.0214 0.986563 IV.98 92.9953 11.0214 0.986563 4.98694 0 Cryptic Acceptor Weakly Activated 68438644 2.92465 0.011985 76.9456 3.10524 0.018813 77.072 transition A G A>G 1.000 2.627 221 PASS . . . . . . . . . . . . . . . . 0.21818182 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 55.0 . . STOP_LOST(HIGH|MISSENSE|tgA/tgG|*320W|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.5549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879221214 9 68438656 C T - FRG1JP 51768 FSHD region gene 1 family member J, pseudogene NR_033907.2 -1 1470 0 substitution exon GRCh37 68438656 68438656 Chr9(GRCh37):g.68438656C>T 957 957 NR_033907.2:n.957G>A 5 28 3' 92.9953 11.0214 0.986563 IV.98 92.9953 11.0214 0.986563 V.42 0 rs879221214 no no 0 0.000000 0 transition G A G>A 1.000 1.820 191 PASS . . . . . . . . . . . . . . . . 0.13793103 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 58.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W319*|FRG1JP|Non-coding_transcript|NON_CODING|NR_033907|NR_033907.ex.5) . . . . . . . 0.2090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215548 LOC642236 FRG1JP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs62555121 9 69002271 T A - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution exon GRCh37 69002271 69002271 Chr9(GRCh37):g.69002271T>A 51 51 NR_031629.1:n.51A>T 1 rs62555121 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1056 166 2 26 6 2 762 52 40 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 304 Exomes transversion A T A>T 0.000 -14.080 161 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccT|P17|MIR1299|Non-coding_transcript|NON_CODING|NR_031629|NR_031629.ex.1) . . . . . . . -0.1657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.59 0.26 182 ENSG00000239070 . MIR1299 . dist\x3d204058\x3bdist\x3d63275 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62555121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-161 . . . . . . . . . . . . rs62555121 rs62555121 rs62555121 rs62555121 1 1538 10 1/0 0,255,255 +rs773681988 9 69002283 A T - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution exon GRCh37 69002283 69002283 Chr9(GRCh37):g.69002283A>T 39 39 NR_031629.1:n.39T>A 1 rs773681988 yes no Frequency 1 0.000000 0 0.001000 0.008475 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.008475 1 1 0 0 0 0 0 0 0 1000 118 2 24 8 4 754 52 38 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 336 Exomes transversion T A T>A 0.000 -14.080 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaA|N13K|MIR1299|Non-coding_transcript|NON_CODING|NR_031629|NR_031629.ex.1) . . . . . . . -0.1680 . . . . . . . . 3.723e-04 . . . 0.0116 0.0027 0 0 0 0 0 . 0.0128 0.0039 0 0 0 0 . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000239070 . MIR1299 . dist\x3d204070\x3bdist\x3d63263 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs773681988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0085 0.001 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs200401671 9 69002295 G A - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution exon GRCh37 69002295 69002295 Chr9(GRCh37):g.69002295G>A 27 27 NR_031629.1:n.27C>T 1 rs200401671 yes no Frequency 1 0.000000 0 0.001976 0.008065 0.000000 0.000000 0.000000 0.000000 0.001340 0.000000 0.000000 0.008065 2 1 0 0 0 0 1 0 0 1012 124 6 24 8 6 746 54 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 467 Exomes transition C T C>T 0.000 -14.080 220 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y9|MIR1299|Non-coding_transcript|NON_CODING|NR_031629|NR_031629.ex.1) . . . . . . . -0.1647 . . . . . . . . 3.729e-04 . . . 0.0125 0.0026 0 0 0 0 0 0 0.0137 0.0039 0 0 0 0 0 0 . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.63 0.26 182 ENSG00000239070 . MIR1299 . dist\x3d204082\x3bdist\x3d63251 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200401671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0081 0.0020 0 0 0 0 0.0013 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs200401671 rs200401671 1 1538 10 1/0 0,252,255 +. 9 69002335 C T - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution upstream GRCh37 69002335 69002335 Chr9(GRCh37):g.69002335C>T -14 -14 NR_031629.1:n.-14G>A p.? p.? 1 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1020 156 6 30 6 2 730 46 44 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 528 Exomes transition G A G>A 0.000 -14.080 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . UPSTREAM(MODIFIER||||MIR1299|Non-coding_transcript|NON_CODING|NR_031629|) . . . . . . . -0.1697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . . . . . . MIR1299 . dist\x3d204122\x3bdist\x3d63211 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 9 69002336 T C - MIR1299 35290 MicroRNA 1299 NR_031629.1 -1 83 0 substitution upstream GRCh37 69002336 69002336 Chr9(GRCh37):g.69002336T>C -15 -15 NR_031629.1:n.-15A>G p.? p.? 1 transition A G A>G 0.000 -14.080 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . UPSTREAM(MODIFIER||||MIR1299|Non-coding_transcript|NON_CODING|NR_031629|) . . . . . . . -0.1697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intergenic upstream . . . @ . . . . . . . . MIR1299 . dist\x3d204123\x3bdist\x3d63210 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs2482270 9 69200747 G T - FOXD4L6 31986 Forkhead box D4-like 6 NM_001085476.1 -1 2725 1254 NP_001078945.1 Q3SYB3 substitution missense exon GRCh37 69200747 69200747 Chr9(GRCh37):g.69200747G>T 866 866 NM_001085476.1:c.866C>A p.Ala289Asp p.Ala289Asp 1 rs2482270 yes no Frequency 1 G 0.000000 0 0.000515 0.000540 0.000553 0.000821 0.000130 0.000351 0.000612 0.000681 0.000539 0.000821 32 5 5 1 1 2 15 2 1 62190 9258 9036 1218 7676 5700 24510 2936 1856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 5 5 1 1 2 15 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426741 Haematopoietic and lymphoid tissue 0.000567 3530 transversion C A C>A 0.055 -0.360 A Ala GCC 0.403 D Asp GAC 0.539 289 8 1 -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 133.94 0.00 Tolerated 1 III.45 good 9.921E-1 0.08629 206 PASS . . . . . . . . . . . ENSG00000204793:ENST00000377473:exon1:c.C866A:p.A289D FOXD4L6:uc004afi.2:exon1:c.C866A:p.A289D FOXD4L6:NM_001085476:exon1:c.C866A:p.A289D . . 0.1754386 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 57.0 . . . . . . . . . . -1.8287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.35 182 ENSG00000204793 FOXD4L6 FOXD4L6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 1 rs2482270 . . . . . . . . . . . . 8.376 . ENST00000377473 I.79 0.526 . 1.000000 Q3SYB3 . . . . . . . . . 0 0.0002 0.0002 0.0009 0 0 0.0004 0 0.0004 0.0011 0.0012 0.0064 0 0.0010 0.0009 0.0011 0.0018 . . . . -0.251 -0.251000 . . 1.000000 . . 1.0E-206 . . . . . . . . . -0.251 . . rs2482270 rs2482270 rs2482270 rs2482270 1 1538 10 1/0 0,255,255 +. 9 69200872 C T - FOXD4L6 31986 Forkhead box D4-like 6 NM_001085476.1 -1 2725 1254 NP_001078945.1 Q3SYB3 substitution synonymous exon GRCh37 69200872 69200872 Chr9(GRCh37):g.69200872C>T 741 741 NM_001085476.1:c.741G>A p.Pro247= p.Pro247Pro 1 0.000728 0.000254 0.000320 0.000896 0.000125 0.000586 0.001285 0.000996 0.000000 0.001285 50 3 3 1 1 3 35 4 0 68696 11796 9366 1116 7984 5118 27234 4016 2066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 3 3 1 1 3 35 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 P Pro CCG 0.115 P Pro CCA 0.274 247 186 PASS . . . . . . . . . . . ENSG00000204793:ENST00000377473:exon1:c.G741A:p.P247P FOXD4L6:uc004afi.2:exon1:c.G741A:p.P247P FOXD4L6:NM_001085476:exon1:c.G741A:p.P247P . . 0.12765957 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.3160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204793 FOXD4L6 FOXD4L6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0 0 0 0.0001 0 0.0006 0.0004 0.0016 0.0013 0.0048 0.0006 0.0012 0.0026 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 69201291 T A - FOXD4L6 31986 Forkhead box D4-like 6 NM_001085476.1 -1 2725 1254 NP_001078945.1 Q3SYB3 substitution stop gain exon GRCh37 69201291 69201291 Chr9(GRCh37):g.69201291T>A 322 322 NM_001085476.1:c.322A>T p.Lys108* p.Lys108* 1 Transcription factor, fork head COSM5425206|COSM5425206 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000567 747|3530 transversion A T A>T 1.000 3.272 K Lys AAG 0.575 * * TAG 0.234 108 255 PASS . . . . . . . . . . . ENSG00000204793:ENST00000377473:exon1:c.A322T:p.K108X FOXD4L6:uc004afi.2:exon1:c.A322T:p.K108X FOXD4L6:NM_001085476:exon1:c.A322T:p.K108X . . 0.4774775 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 111.0 . . . . . . . . . . 0.5176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.38 0.37 182 ENSG00000204793 FOXD4L6 FOXD4L6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . VII.37 . ENST00000377473 2.II 2.II . 1.000000 . . . . . . . . . 2.II . . . . . . . . . . . . . . . . . . . . . 1.005 1.005000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 1.005 . . rs7034645 rs7034645 rs7034645 rs7034645 1 1538 10 1/0 0,255,255 +rs751362141 9 69201479 G T - FOXD4L6 31986 Forkhead box D4-like 6 NM_001085476.1 -1 2725 1254 NP_001078945.1 Q3SYB3 substitution missense exon GRCh37 69201479 69201479 Chr9(GRCh37):g.69201479G>T 134 134 NM_001085476.1:c.134C>A p.Ala45Glu p.Ala45Glu 1 COSM6381811 Thyroid 0.001339 747 transversion C A C>A 0.000 0.125 A Ala GCG 0.107 E Glu GAG 0.583 45 8 1 -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Tolerated 1 III.63 good 9.997E-1 0.001068 207 PASS . . . . . . . . . . . ENSG00000204793:ENST00000377473:exon1:c.C134A:p.A45E FOXD4L6:uc004afi.2:exon1:c.C134A:p.A45E FOXD4L6:NM_001085476:exon1:c.C134A:p.A45E . . 0.17857143 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 56.0 . . . . . . . . . . -1.9509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.22 182 ENSG00000204793 FOXD4L6 FOXD4L6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.86 . . . . . . . . . . . . . IV.94 . ENST00000377473 I.56 I.56 . 1.000000 Q3SYB3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.083 0.083000 . . 1.000000 . . 1.0E-207 . . . . . . . . . 0.083 . . rs2482277 rs2482277 rs2482277 rs2482277 1 1538 10 1/0 0,255,255 +. 9 69218548 G GT - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 duplication frameshift exon GRCh37 69218548 69218549 Chr9(GRCh37):g.69218549dup 777 777 NM_001085457.1:c.777dup p.Leu260Thrfs*12 p.Leu260Thrfs*12 11 13 3' 0 0.681481 0.880315 0 0 0.681481 0.855598 0 -0.0140387 rs758567877 yes no Frequency 1 0.000000 0 0.000265 0.000451 0.000401 0.000000 0.000492 0.000388 0.000105 0.000000 0.000000 0.000492 12 2 3 0 3 2 2 0 0 45222 4432 7478 1206 6096 5152 19072 584 1202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 2 3 0 3 2 2 0 0 0 0 0 0 0 0 0 0 0 RF 56 Exomes COSM1462691 Pancreas 0.001152 1736 A 255 Pass . . . . . . . . . . . . CBWD6:uc004afj.4:exon11:c.777dupA:p.L260fs CBWD6:NM_001085457:exon11:c.777dupA:p.L260fs . . 0.3529412 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 51 . . FRAME_SHIFT(HIGH||||CBWD6|mRNA|CODING|NM_001085457|NM_001085457.ex.11) . . . . . . . . . . . . . . . . 1.392e-04 . . . 0 0.0005 0 0 0 0 0 0.0096 0 0.0016 0 0 0 0 . 0.0102 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000204790 CBWD6 CBWD6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758567877 . . . . . . ID\x3dCOSM1462691\x3bOCCURENCE\x3d10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0.0004 0 0.0005 0 0.0001 0 0.0004 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs56296569 rs56296569 rs56296569 1 1538 10 1.I 0,11,45 +rs113253640 9 69245883 C T - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 substitution intron GRCh37 69245883 69245883 Chr9(GRCh37):g.69245883C>T 528+58 528+58 NM_001085457.1:c.528+58G>A p.? p.? 6 6 58 5' 87.5573 9.72159 0.98226 0 87.5573 9.72159 0.98226 0 0 rs113253640 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.165 0.770 213 PASS . . . . . . . . . . . . . . . . 0.19607843 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||CBWD6|mRNA|CODING|NM_001085457|) . . . . . . . 0.0029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.31 182 ENSG00000204790 CBWD6 CBWD6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113253640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs3908661 rs3908661 rs3908661 rs113253640 1 1538 10 1/0 0,255,255 +. 9 69253272 T C - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 substitution intron GRCh37 69253272 69253272 Chr9(GRCh37):g.69253272T>C 430+2332 430+2332 NM_001085457.1:c.430+2332A>G p.? p.? 4 4 2332 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 transition A G A>G 0.638 0.125 239 PASS . . . . . . . . . . . ENSG00000196400:ENST00000354995:exon1:c.T428C:p.M143T . . . . 0.28 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.4622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.38 0.15 182 ENSG00000196400 CBWD6 CBWD6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000354995 0.109 0.109 . 0.100000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.156 0.156000 . . 0.100000 . . 1.0E-239 . . . . . . . . . 0.156 . . rs1756506 rs1756506 rs1756506 rs1756506 1 1538 10 1/0 0,255,255 +. 9 69255640 C A - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 substitution missense exon GRCh37 69255640 69255640 Chr9(GRCh37):g.69255640C>A 394 394 NM_001085457.1:c.394G>T p.Asp132Tyr p.Asp132Tyr 4 -37 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 Cryptic Acceptor Strongly Activated 69255627 0.0621854 0.003437 65.0409 1.30363 0.037721 70.6375 Cobalamin (vitamin B12) biosynthesis CobW-like COSM5428573 Haematopoietic and lymphoid tissue 0.000283 3530 transversion G T G>T 1.000 1.658 D Asp GAC 0.539 Y Tyr TAC 0.562 132 11 1 -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 173.88 0.00 Tolerated 1 III.46 good 1,00E+00 0.004725 183 PASS . . . . . . . . . . . . CBWD6:uc004afj.4:exon4:c.G394T:p.D132Y CBWD6:NM_001085457:exon4:c.G394T:p.D132Y . . 0.121212125 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 66.0 . . . . . . . . . . -1.3922 -1.107 -1.392 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.281 @ . . . 0.53 0.37 182 ENSG00000204790 CBWD6 CBWD6 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.191 0.007 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.224 . . . LowAF 1 . . . . . . . . . . . . . VI.23 . . II.36 II.36 . 1.000000 Q4V339 . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . 0.609 . 0.163 0.163000 . . 1.000000 . . 1.0E-183 1.000 0.715 . 0.587 . . 0.660 . 0.117 0.163 . . rs62548542 rs62548542 rs62548542 rs62548542 1 1538 10 1/0 0,246,255 +. 9 69262437 C T - CBWD6 31978 COBW domain containing 6 NM_001085457.1 -1 1719 1188 NP_001078926.1 Q4V339 substitution synonymous exon GRCh37 69262437 69262437 Chr9(GRCh37):g.69262437C>T 51 51 NM_001085457.1:c.51G>A p.Glu17= p.Glu17Glu 1 -104 5' 83.176 6.42642 0.975166 2.72131 83.176 6.42642 0.975166 2.72131 0 transition G A G>A 1.000 0.286 E Glu GAG 0.583 E Glu GAA 0.417 17 205 PASS . . . . . . . . . . . . . . . . 0.1734694 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . 1.0893 1.349 1.089 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.162 @ . . . 0.59 0.49 182 ENSG00000204790 CBWD6 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.256 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-205 0.999 0.424 . 0.450 . . 0.204 . 0.088 . . . rs2989625 rs2989625 rs2989625 rs2989625 1 1538 10 1/0 0,233,255 +rs199736626 9 69385873 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69385873 69385873 Chr9(GRCh37):g.69385873C>T 319-9 319-9 NM_001098805.1:c.319-9C>T p.? p.? 3 2 -9 3' 72.3891 2.15552 0.001267 0 75.1009 2.01764 0.001842 0 0.142442 Cryptic Acceptor Weakly Activated 69385882 2.15552 0.001267 72.3891 2.01764 0.001842 75.1009 rs199736626 yes no Frequency 1 C 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000035 0.000000 0.000000 0.000035 1 0 0 0 0 0 1 0 0 56678 3424 8796 1188 7138 3450 28938 2624 1120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 38 Exomes transition C T C>T 0.000 -0.279 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.5834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.21 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199736626 . . . . . . . . . . . . . . . . . . . . 0 0.022 . . . . . . . 0 1.764e-05 0 0 0 0 3.456e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs199736626 rs199736626 1 1538 10 1/0 0,255,255 +rs200615607 9 69385875 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69385875 69385875 Chr9(GRCh37):g.69385875C>T 319-7 319-7 NM_001098805.1:c.319-7C>T p.? p.? 3 2 -7 3' 72.3891 2.15552 0.001267 0 73.8997 2.84267 0.001839 0 0.263704 Cryptic Acceptor Strongly Activated 69385882 2.15552 0.001267 72.3891 2.84267 0.001839 73.8997 rs200615607 yes no Frequency 1 C 0.000000 0 0.007569 0.001390 0.031409 0.005902 0.006764 0.045091 0.001371 0.000000 0.013462 0.045091 521 10 259 7 51 124 49 0 21 68834 7196 8246 1186 7540 2750 35752 4604 1560 0.000145 0.000000 0.000243 0.000000 0.000265 0.000000 0.000168 0.000000 0.000000 5 0 1 0 1 0 3 0 0 511 10 257 7 49 124 43 0 21 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427666 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 -0.682 224 PASS . . . . . . . . . . . . . . . . 0.22857143 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.3429 . . . . . . . . 9.517e-05 . . . 0 0.0002 0.0005 0 0 0.0003 0 0 0 0.0002 0.0006 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.22 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200615607 . . . . . . . . . . . . . . . . . . . . 0 0.02 . . . . . . . 0.0032 0.0099 0.0332 0.0068 0.0076 0 0.0017 0.0212 0.0451 0 0.0003 0 0 0.0018 0 0.0004 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs4929513 rs4929513 rs4929513 rs200615607 1 1538 10 1/0 0,255,255 +. 9 69385988 A G - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69385988 69385988 Chr9(GRCh37):g.69385988A>G 425 425 NM_001098805.1:c.425A>G p.Tyr142Cys p.Tyr142Cys 3 -68 5' 72.3493 7.98261 0.586567 3.09002 72.3493 7.98261 0.586567 3.47884 0 Cryptic Donor Strongly Activated 69385983 3.6e-05 48.0325 2.17887 0.020206 60.184 Ankyrin repeat Ankyrin repeat-containing domain 0.001765 0.000000 0.001919 0.000000 0.000000 0.010667 0.000857 0.000000 0.004065 0.010667 14 0 2 0 0 8 3 0 1 7934 1118 1042 144 814 750 3502 318 246 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 2 0 0 8 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.054 Y Tyr TAT 0.438 C Cys TGT 0.448 142 12 5 American pika -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 234.48 0.00 Tolerated 0.16 II.66 bad 1.03E-4 5.317E-5 207 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon3:c.A425G:p.Y142C ANKRD20A4:uc004afn.3:exon3:c.A425G:p.Y142C ANKRD20A4:NM_001098805:exon3:c.A425G:p.Y142C . . 0.18 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.155 . . 50.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y142C|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.3) . . . . . . . -1.6542 -1.829 -1.654 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.638 . . exonic exonic exonic . . 0.032 @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.070 0.003 . . 37 . 0.493 . . 0.346 . . . 0.246 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.883 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.279 . . . . . 0.063 . 0.101 . HET 0.02 . . . . . . . . . . . . . III.56 . ENST00000357336 II.26 -4.51 . 0.120000 Q4UJ75 . . . . . 0.016 . . . 0 0.0048 0.0021 0 0 0 0.0051 0.0088 0.0107 0 0.0002 0 0 0 0 0.0003 0 . . 0.246 . -1.819 -1.819000 . . 0.120000 . . 1.0E-207 0.000 0.063 . 0.016 0.001 . 0.005 . 0.003 -1.819 -1.813 . . . . . 1 1538 10 1/0 0,255,255 +. 9 69389860 G A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69389860 69389860 Chr9(GRCh37):g.69389860G>A 493-79 493-79 NM_001098805.1:c.493-79G>A p.? p.? 4 3 -79 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 6.48561 0 Cryptic Acceptor Strongly Activated 69389869 0.001185 0.975216 0.000636 62.2739 transition G A G>A 0.000 0.367 145 PASS . . . . . . . . . . . . . . . . 0.103896104 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.0568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 9 69389866 T C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69389866 69389866 Chr9(GRCh37):g.69389866T>C 493-73 493-73 NM_001098805.1:c.493-73T>C p.? p.? 4 3 -73 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 VI.31 0 0.005854 0.009516 0.007911 0.000000 0.011424 0.000000 0.003530 0.006706 0.004178 0.011424 140 57 5 0 13 0 44 18 3 23914 5990 632 286 1138 0 12466 2684 718 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 140 57 5 0 13 0 44 18 3 0 0 0 0 0 0 0 0 0 RF 53 Genomes transition T C T>C 0.000 -0.198 204 PASS . . . . . . . . . . . . . . . . 0.17073171 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.3939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0095 0.0059 0.0079 0 0.0114 0.0067 0.0035 0.0042 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs368570151 9 69389881 G T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69389881 69389881 Chr9(GRCh37):g.69389881G>T 493-58 493-58 NM_001098805.1:c.493-58G>T p.? p.? 4 3 -58 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 6.70561 0 Cryptic Acceptor Strongly Activated 69389887 0.002279 0.725569 0.078047 86.1722 rs368570151 no no 0 G 0.000000 0 transversion G T G>T 0.000 -0.924 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.3191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs368570151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs368570151 rs368570151 1 1538 10 1/0 0,234,255 +. 9 69389925 C G - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution intron GRCh37 69389925 69389925 Chr9(GRCh37):g.69389925C>G 493-14 493-14 NM_001098805.1:c.493-14C>G p.? p.? 4 3 -14 3' 85.5744 XI.09 0.972145 6.51783 83.1647 XI.04 0.971103 5.88283 -0.00768877 transversion C G C>G 0.000 -1.812 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||ANKRD20A4|mRNA|CODING|NM_001098805|) . . . . . . . -0.2799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 9 69389950 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution synonymous exon GRCh37 69389950 69389950 Chr9(GRCh37):g.69389950C>T 504 504 NM_001098805.1:c.504C>T p.Thr168= p.Thr168Thr 4 12 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.9676 6.56166 -0.00155841 Ankyrin repeat Ankyrin repeat-containing domain transition C T C>T 0.524 -0.117 T Thr ACC 0.361 T Thr ACT 0.243 168 195 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon4:c.C504T:p.T168T ANKRD20A4:uc004afn.3:exon4:c.C504T:p.T168T ANKRD20A4:NM_001098805:exon4:c.C504T:p.T168T . . 0.14705883 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T168|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.4) . . . . . . . 0.1876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 9 69389962 T C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution synonymous exon GRCh37 69389962 69389962 Chr9(GRCh37):g.69389962T>C 516 516 NM_001098805.1:c.516T>C p.Phe172= p.Phe172Phe 4 24 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 7.07805 0 Ankyrin repeat Ankyrin repeat-containing domain transition T C T>C 0.406 0.286 F Phe TTT 0.454 F Phe TTC 0.546 172 191 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon4:c.T516C:p.F172F ANKRD20A4:uc004afn.3:exon4:c.T516C:p.F172F ANKRD20A4:NM_001098805:exon4:c.T516C:p.F172F . . 0.13793103 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F172|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.4) . . . . . . . 0.0194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.29 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs28553412 rs28553412 rs28553412 rs28553412 1 1538 10 1/0 0,253,255 +. 9 69389963 G A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69389963 69389963 Chr9(GRCh37):g.69389963G>A 517 517 NM_001098805.1:c.517G>A p.Ala173Thr p.Ala173Thr 4 25 3' 85.5744 XI.09 0.972145 6.51783 85.5744 XI.09 0.972145 5.87672 0 Ankyrin repeat Ankyrin repeat-containing domain transition G A G>A 0.374 1.577 A Ala GCT 0.263 T Thr ACT 0.243 173 12 11 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 208.40 31.45 Deleterious 0 II.66 bad 1.194E-5 2.111E-5 197 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon4:c.G517A:p.A173T ANKRD20A4:uc004afn.3:exon4:c.G517A:p.A173T ANKRD20A4:NM_001098805:exon4:c.G517A:p.A173T . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.463 . @ . . . . . 1 0.571 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A173T|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.4) . . . . . . . -0.1261 -0.295 -0.126 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.818 . . exonic exonic exonic . . 0.273 @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.559 0.034 . . 37 . 0.812 . . 0.755 . . . 0.933 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.612 . . 0 0 0 0 0 0 . 0.413 . . 0.331 . . . . . . 0 0.682 . . . . . 0.293 . 0.589 . HET 0.01 . . . . . . . . . . . . . VII.99 . ENST00000357336 II.26 II.26 . 0.000000 Q4UJ75 . . . . . 0.319 . . II.26 . . . . . . . . . . . . . . . . . . . 0.246 . 1.256 1.256000 . . 0.000000 . . 1.0E-197 0.993 0.376 . 0.043 0.086 . 0.623 . 0.280 1.256 0.697 . . . . . 1 1538 10 1/0 0,255,255 +. 9 69391098 T C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution synonymous exon GRCh37 69391098 69391098 Chr9(GRCh37):g.69391098T>C 606 606 NM_001098805.1:c.606T>C p.Ala202= p.Ala202Ala 5 7 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.985908 2.75053 7.71041e-05 Ankyrin repeat Ankyrin repeat-containing domain 0.000730 0.002097 0.000000 0.000000 0.000000 0.000000 0.000238 0.000321 0.000000 0.002097 19 15 0 0 0 0 3 1 0 26016 7152 674 216 1436 0 12628 3112 798 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 15 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 49 Genomes transition T C T>C 0.004 -2.942 A Ala GCT 0.263 A Ala GCC 0.403 202 244 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon5:c.T606C:p.A202A ANKRD20A4:uc004afn.3:exon5:c.T606C:p.A202A ANKRD20A4:NM_001098805:exon5:c.T606C:p.A202A . . 0.29411766 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 34.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A202|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.5) . . . . . . . -1.1144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0007 0 0 0 0.0003 0.0002 0 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796094018 9 69391111 G A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69391111 69391111 Chr9(GRCh37):g.69391111G>A 619 619 NM_001098805.1:c.619G>A p.Val207Ile p.Val207Ile 5 20 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.986758 2.1248 0.000364554 Ankyrin repeat Ankyrin repeat-containing domain rs796094018 no no 0 G 0.000000 0 0.001893 0.005743 0.001678 0.000000 0.000000 0.000000 0.000338 0.001068 0.001319 0.005743 45 36 1 0 0 0 4 3 1 23768 6268 596 208 1296 0 11832 2810 758 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 36 1 0 0 0 4 3 1 0 0 0 0 0 0 0 0 0 RF 50 Genomes COSM131405|COSM131405 Liver|Central nervous system 0.000422|0.000424 2371|2361 transition G A G>A 0.031 -0.279 V Val GTA 0.114 I Ile ATA 0.163 207 12 2 Chimp 3 3 4 0 0 5.IX 5.II 84 111 29 C0 273.19 0.00 Tolerated 0.41 II.66 bad 4.044E-3 0.0001772 255 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon5:c.G619A:p.V207I ANKRD20A4:uc004afn.3:exon5:c.G619A:p.V207I ANKRD20A4:NM_001098805:exon5:c.G619A:p.V207I . . 0.36842105 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.023 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V207I|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.5) . . . . . . . -1.4500 -1.515 -1.450 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.680 . . exonic exonic exonic . . 0.097 @ . . . 0.37 0.3 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.228 0.009 . . 37 . 0.481 . . 0.269 . . . 0.514 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.174 . . 0 0 0 0 0 0 . 0.189 . . 0.154 . . . . . . 0 0.090 . . . . . 0.099 . 0.152 . HET 0.36 . . . . . . . . . . . . . IV.07 . ENST00000357336 I.52 -0.966 . 0.460000 Q4UJ75 . . . . . 0.081 . . . . . . . . . . . . 0.0057 0.0019 0.0017 0 0 0.0011 0.0003 0.0013 . . 0.246 . -0.795 -0.795000 . . 0.460000 . . 1.0E-255 0.746 0.288 . 0.043 0.044 . 0.234 . 0.017 -0.795 -0.290 . . . . . 1 1538 10 1/0 0,255,255 +. 9 69391114 T C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69391114 69391114 Chr9(GRCh37):g.69391114T>C 622 622 NM_001098805.1:c.622T>C p.Tyr208His p.Tyr208His 5 23 3' 90.208 12.0197 0.98568 2.50622 90.208 12.0197 0.98568 2.91823 0 Ankyrin repeat Ankyrin repeat-containing domain 0.002248 0.006425 0.003322 0.000000 0.000768 0.000000 0.000595 0.000730 0.001348 0.006425 53 40 2 0 1 0 7 2 1 23578 6226 602 206 1302 0 11760 2740 742 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 40 2 0 1 0 7 2 1 0 0 0 0 0 0 0 0 0 RF 49 Genomes transition T C T>C 0.000 -0.440 Y Tyr TAC 0.562 H His CAC 0.587 208 12 3 Frog 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 275.98 0.00 Tolerated 0.55 II.66 bad 6.862E-4 5.317E-5 255 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon5:c.T622C:p.Y208H ANKRD20A4:uc004afn.3:exon5:c.T622C:p.Y208H ANKRD20A4:NM_001098805:exon5:c.T622C:p.Y208H . . 0.39473686 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.024 . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y208H|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.5) . . . . . . . -1.7418 -1.820 -1.742 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.643 . . exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.173 0.007 . . 37 . 0.401 . . 0.251 . . . 0.042 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.036 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.067 . . . . . 0.037 . 0.048 . HET 0.56 . . . . . . . . . . . . . 2.244 . ENST00000357336 I.52 0.174 . 0.550000 Q4UJ75 . . . . . 0.012 . . . . . . . . . . . . 0.0064 0.0022 0.0033 0 0.0008 0.0007 0.0006 0.0013 . . 0.246 . -1.743 -1.743000 . . 0.550000 . . 1.0E-255 0.001 0.137 . 0.016 0.001 . 0.140 . 0.000 -1.743 -1.882 . . . . . 1 1538 10 1/0 0,255,255 +rs199996482 9 69423558 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution synonymous exon GRCh37 69423558 69423558 Chr9(GRCh37):g.69423558C>T 1854 1854 NM_001098805.1:c.1854C>T p.Ser618= p.Ser618Ser 15 357 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs199996482 yes no Frequency 1 C 0.000000 0 0.007482 0.005503 0.000699 0.004587 0.000552 0.002410 0.008357 0.027954 0.003571 0.027954 809 64 10 14 6 21 385 299 10 108132 11630 14302 3052 10868 8714 46070 10696 2800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 809 64 10 14 6 21 385 299 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3718715|COSM3718715|COSM3718715|COSM3718715 Upper aerodigestive tract|Thyroid|Liver|Breast 0.001608|0.001339|0.001687|0.000819 1244|747|2371|2442 transition C T C>T 0.000 -2.054 S Ser AGC 0.243 S Ser AGT 0.149 618 219 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C1854T:p.S618S ANKRD20A4:uc004afn.3:exon15:c.C1854T:p.S618S ANKRD20A4:NM_001098805:exon15:c.C1854T:p.S618S . . 0.21014492 . . @ 29 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S618|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -0.6742 . . . . . . . . 7.751e-03 . . . 0.1235 0.1067 0.0729 0.0640 0.08 0.1138 0.0517 0.1165 0.1046 0.0540 0.0621 0.0476 0.0714 0.0323 0 0.1145 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.39 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199996482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0047 0.0081 0.0004 0.0042 0.0005 0.0333 0.0099 0.0038 0.0024 0.0063 0.0050 0.0062 0.0102 0.0007 0.0115 0.0033 0.0028 . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs2633907 rs2633907 rs2633907 rs199996482 1 1538 10 1/0 0,222,255 +rs77404847 9 69423755 G C - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423755 69423755 Chr9(GRCh37):g.69423755G>C 2051 2051 NM_001098805.1:c.2051G>C p.Ser684Thr p.Ser684Thr 15 554 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs77404847 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127620 6550 17286 5406 11296 11664 63084 9516 2818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 44 Exomes COSM4987850|COSM4987850|COSM4987850 Soft tissue|Liver|Haematopoietic and lymphoid tissue 0.001838|0.000844|0.000283 544|2371|3530 transversion G C G>C 0.197 -0.117 S Ser AGT 0.149 T Thr ACT 0.243 684 12 3 Frog 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 0.96 II.66 good 9.506E-1 0.0001277 218 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.G2051C:p.S684T ANKRD20A4:uc004afn.3:exon15:c.G2051C:p.S684T ANKRD20A4:NM_001098805:exon15:c.G2051C:p.S684T . . 0.20967741 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.030 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S684T|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.5863 -1.569 -1.586 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.133 @ . . . 0.4 0.38 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.479 0.208 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.058 . . 0.357 . . . 0.011 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.040 . . . . . 0.033 . 0.120 . HET 0.11 rs202189725 . . . . . . . . . . . . 2.0612 . ENST00000357336 II.26 -1.49E-4 . 0.360000 Q4UJ75 . . . . . 0.004 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.581 -0.581000 . . 0.360000 . . 1.0E-218 0.002 0.151 . 0.074 0.274 . 0.297 . 0.062 -0.581 -1.065 . . . rs77404847 rs202189725 1 1538 10 1/0 0,255,255 +rs200208176 9 69423770 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423770 69423770 Chr9(GRCh37):g.69423770C>T 2066 2066 NM_001098805.1:c.2066C>T p.Ser689Leu p.Ser689Leu 15 569 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 Cryptic Acceptor Strongly Activated 69423782 1.44376 0.008593 72.8598 1.56115 0.018836 76.1745 rs200208176 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 138784 6954 19224 6082 11898 13040 67812 10710 3064 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM4163983 Thyroid 0.001339 747 transition C T C>T 0.055 0.044 S Ser TCA 0.148 L Leu TTA 0.073 689 12 4 Platypus -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Tolerated 0.14 II.66 bad 2.871E-5 9.72E-5 200 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C2066T:p.S689L ANKRD20A4:uc004afn.3:exon15:c.C2066T:p.S689L ANKRD20A4:NM_001098805:exon15:c.C2066T:p.S689L . . 0.16071428 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.219 . @ . . . . . 1 0.213 . . 56.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S689L|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.1179 -1.203 -1.118 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.164 . . exonic exonic exonic . . 0.147 @ . . . 0.42 0.4 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.478 0.207 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.054 0.003 . . 37 . 0.162 . . 0.275 . . . 0.488 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.452 . . 0 0 0 0 0 0 . 0.178 . . 0.063 . . . . . . 0 0.564 . . . . . 0.142 . 0.275 . HET 0.01 rs200208176 . . . . . . ID\x3dCOSM4163983\x3bOCCURENCE\x3d1(thyroid) . . . . . 5.1523 . ENST00000357336 II.26 0.24 . 0.010000 Q4UJ75 . . . . . 0.121 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.081 -0.081000 . . 0.010000 . . 1.0E-200 0.398 0.259 . 0.043 0.947 . 0.248 . 0.277 -0.081 0.666 . . . rs200208176 rs200208176 1 1538 10 1/0 0,255,255 +rs75696372 9 69423792 A T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423792 69423792 Chr9(GRCh37):g.69423792A>T 2088 2088 NM_001098805.1:c.2088A>T p.Gln696His p.Gln696His 15 591 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs75696372 no no 0 A 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000000 0.000069 1 0 0 0 0 1 0 0 0 148004 7228 21530 6696 12558 14442 70816 11400 3334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 51 Exomes COSM5021593|COSM5021593 Liver|Bone 0.000422|0.001757 2371|569 transversion A T A>T 0.441 -0.924 Q Gln CAA 0.256 H His CAT 0.413 696 12 9 Tetraodon 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Deleterious 0.01 II.66 good 8.424E-1 0.000574 230 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.A2088T:p.Q696H ANKRD20A4:uc004afn.3:exon15:c.A2088T:p.Q696H ANKRD20A4:NM_001098805:exon15:c.A2088T:p.Q696H . . 0.24528302 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.130 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caA/caT|Q696H|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.3028 -1.415 -1.303 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.241 . . exonic exonic exonic . . 0.042 @ . . . 0.35 0.42 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.882 0.256 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.109 0.004 . . 37 . 0.213 . . 0.351 . . . 0.581 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.683 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 0.912 . . . . . 0.118 . 0.347 . HET 0 rs75696372 . . . . . . . . . . . . IV.84 . ENST00000357336 II.26 -3.64 . 0.000000 Q4UJ75 . . . . . 0.182 . . . 0 6.757e-06 0 0 0 0 0 0 6.924e-05 . . . . . . . . . . 0.246 . -0.844 -0.844000 . . 0.000000 . . 1.0E-230 0.959 0.333 . 0.016 0.020 . 0.120 . 0.003 -0.844 -1.228 . . . rs75696372 rs75696372 1 1538 10 1/0 0,255,255 +rs773492536 9 69423796 A G - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423796 69423796 Chr9(GRCh37):g.69423796A>G 2092 2092 NM_001098805.1:c.2092A>G p.Asn698Asp p.Asn698Asp 15 595 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs773492536 yes no Frequency 1 G 0.000000 0 0.004713 0.000914 0.014268 0.000591 0.002638 0.023559 0.000801 0.000302 0.006273 0.023559 760 10 297 4 35 323 63 4 24 161268 10946 20816 6764 13268 13710 78690 13248 3826 0.004353 0.000914 0.013163 0.000296 0.002412 0.022611 0.000635 0.000151 0.005750 351 5 137 1 16 155 25 1 11 58 0 23 2 3 13 13 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4596460 Upper aerodigestive tract 0.002412 1244 transition A G A>G 0.709 -0.037 N Asn AAC 0.536 D Asp GAC 0.539 698 12 2 Dog 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Tolerated 1 II.66 good 9.366E-1 0.0002637 177 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.A2092G:p.N698D ANKRD20A4:uc004afn.3:exon15:c.A2092G:p.N698D ANKRD20A4:NM_001098805:exon15:c.A2092G:p.N698D . . 0.10909091 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.004 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N698D|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -2.0323 -1.913 -2.032 c . . . . . 5.999e-05 . . . 0 2.073e-05 0 0 0 4.285e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.103 . . exonic exonic exonic . . 0.087 @ . . . 0.36 0.45 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.523 0.211 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.018 . . 0.410 . . . 0.005 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.070 . 0.024 . LowAF 1 rs773492536 . . . . . . . . . . . . III.94 . ENST00000357336 II.26 -1.3 . 1.000000 Q4UJ75 . . . . . 0.033 . . . 0.0014 0.0052 0.0145 0.0003 0.0029 0.0002 0.0008 0.0071 0.0236 0 0.0009 0.0021 0.0118 0 0.0009 0.0012 0.0017 . . 0.246 . -0.480 -0.480000 . . 1.000000 . . 1.0E-177 1.000 0.715 . 0.016 0.010 . 0.442 . 0.004 -0.480 -1.818 . rs1828257 rs1828257 rs1828257 rs1828257 1 1538 10 1.I 0,0,0 +rs202130567 9 69423821 C T - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423821 69423821 Chr9(GRCh37):g.69423821C>T 2117 2117 NM_001098805.1:c.2117C>T p.Thr706Ile p.Thr706Ile 15 620 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs202130567 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136402 6904 19020 5948 11812 13062 67384 9252 3020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Exomes transition C T C>T 0.016 -0.440 T Thr ACA 0.280 I Ile ATA 0.163 706 12 2 Chimp -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.34 II.66 good 9.239E-1 0.1294 206 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C2117T:p.T706I ANKRD20A4:uc004afn.3:exon15:c.C2117T:p.T706I ANKRD20A4:NM_001098805:exon15:c.C2117T:p.T706I . . 0.17741935 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.044 . @ . . . . . 1 0.021 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T706I|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.6871 -1.578 -1.687 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.162 . . exonic exonic exonic . . 0.120 @ . . . 0.39 0.37 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.512 0.210 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.026 . . 0.407 . . . 0.002 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.050 . . . . . 0.054 . 0.179 . HET 0.54 rs202130567 . . . . . . . . . . . . II.11 . ENST00000357336 II.26 -0.342 . 0.750000 Q4UJ75 . . . . . 0.095 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.304 -0.304000 . . 0.750000 . . 1.0E-206 1.000 0.715 . 0.016 0.004 . 0.315 . 0.012 -0.304 -2.007 . . . rs202130567 rs202130567 1 1538 10 1/0 0,254,255 +rs200306562 9 69423823 C A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423823 69423823 Chr9(GRCh37):g.69423823C>A 2119 2119 NM_001098805.1:c.2119C>A p.Gln707Lys p.Gln707Lys 15 622 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs200306562 no no 0 C 0.000000 0 COSM4163984 Thyroid 0.001339 747 transversion C A C>A 0.433 0.044 Q Gln CAG 0.744 K Lys AAG 0.575 707 12 2 Chimp 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 1 II.66 good 8.08E-1 0.0002853 198 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C2119A:p.Q707K ANKRD20A4:uc004afn.3:exon15:c.C2119A:p.Q707K ANKRD20A4:NM_001098805:exon15:c.C2119A:p.Q707K . . 0.15625 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.021 . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Aag|Q707K|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -1.6081 -1.493 -1.608 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.117 . . exonic exonic exonic . . 0.187 @ . . . 0.45 0.43 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.502 0.209 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.041 0.002 . . 37 . 0.028 . . 0.427 . . . 0.002 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.259 . 0.266 . HET 1 rs200306562 . . . . . . ID\x3dCOSM4163984\x3bOCCURENCE\x3d1(thyroid) . . . . . VII.17 . ENST00000357336 II.26 0.968 . 1.000000 Q4UJ75 . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.289 -0.289000 . . 1.000000 . . 1.0E-198 1.000 0.715 . 0.074 0.030 . 0.475 . 0.090 -0.289 -0.930 . . . rs200306562 rs200306562 1 1538 10 1/0 0,250,255 +rs201501857 9 69423844 C G - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423844 69423844 Chr9(GRCh37):g.69423844C>G 2140 2140 NM_001098805.1:c.2140C>G p.Gln714Glu p.Gln714Glu 15 643 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 Cryptic Donor Strongly Activated 69423839 0.001283 56.1318 2.40618 0.04694 68.8277 rs201501857 no no 0 C 0.000000 0 COSM4609855 Haematopoietic and lymphoid tissue 0.000850 3530 transversion C G C>G 0.913 2.062 Q Gln CAA 0.256 E Glu GAA 0.417 714 12 8 Frog 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 353.86 0.00 Tolerated 0.16 II.66 bad 4.158E-5 7.584E-5 183 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.C2140G:p.Q714E ANKRD20A4:uc004afn.3:exon15:c.C2140G:p.Q714E ANKRD20A4:NM_001098805:exon15:c.C2140G:p.Q714E . . 0.121212125 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.230 . @ . . . . . 1 0.192 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q714E|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -0.0314 -0.209 -0.031 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.113 . . exonic exonic exonic . . 0.273 @ . . . 0.5 0.5 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.528 0.211 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.036 0.002 . . 37 . 0.216 . . 0.044 . . . 0.707 0.247 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . 0.523 . . 0.538 . . . . . . 0 0.654 . . . . . 0.420 . 0.332 . LowAF 0.07 rs201501857 . . . . . . . . . . . . X.06 . ENST00000357336 II.26 II.26 . 0.030000 Q4UJ75 . . . . . 0.358 . . II.26 . . . . . . . . . . . . . . . . . . . 0.246 . 1.256 1.256000 . . 0.030000 . . 1.0E-183 1.000 0.715 . 0.074 0.098 . 0.418 . 0.277 1.256 0.666 . . . rs201501857 rs201501857 1 1538 10 1/0 0,246,255 +rs202042730 9 69423863 T A - ANKRD20A4 31982 Ankyrin repeat domain 20 family, member A4 NM_001098805.1 1 3517 2472 NP_001092275.1 Q4UJ75 substitution missense exon GRCh37 69423863 69423863 Chr9(GRCh37):g.69423863T>A 2159 2159 NM_001098805.1:c.2159T>A p.Val720Glu p.Val720Glu 15 662 3' 91.8304 XII.49 0.97462 9.75224 91.8304 XII.49 0.97462 9.75224 0 rs202042730 no no 0 T 0.000000 0 COSM1191864|COSM1191864|COSM1191864|COSM1191864 Thyroid|Liver|Haematopoietic and lymphoid tissue|Central nervous system 0.005355|0.000422|0.000567|0.002965 747|2371|3530|2361 transversion T A T>A 0.575 1.739 V Val GTG 0.468 E Glu GAG 0.583 720 12 6 Chicken -3 -2 -4 0 0.92 5.IX 12.III 84 83 121 C0 353.86 0.00 Deleterious 0.02 II.66 bad 1.377E-5 0.0001772 185 PASS . . . . . . . . . . . ENSG00000172014:ENST00000357336:exon15:c.T2159A:p.V720E ANKRD20A4:uc004afn.3:exon15:c.T2159A:p.V720E ANKRD20A4:NM_001098805:exon15:c.T2159A:p.V720E . . 0.125 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.385 . @ . . . . . 1 0.346 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gAg|V720E|ANKRD20A4|mRNA|CODING|NM_001098805|NM_001098805.ex.15) . . . . . . . -0.1762 -0.335 -0.176 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.231 . . exonic exonic exonic . . 0.273 @ . . . 0.5 0.51 182 ENSG00000172014 ANKRD20A4 ANKRD20A4 . . . 0.311 0.193 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.153 0.006 . . 37 . 0.294 . . 0.091 . . . 0.463 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.601 . . 0 0 0 0 0 0 . 0.629 . . 0.486 . . . . . . 0 0.912 . . . . . 0.297 . 0.373 . LowAF 0.17 rs202042730 . . . . . . . . . . . . 8.0702 . ENST00000357336 II.26 II.26 . 0.140000 Q4UJ75 . . . . . 0.284 . . II.26 . . . . . . . . . . . . . . . . . . . 0.246 . 1.033 1.033000 . . 0.140000 . . 1.0E-185 1.000 0.715 . 0.043 0.066 . 0.425 . 0.011 1.033 0.755 . . . rs202042730 rs202042730 1 1538 10 1/0 0,243,255 +rs879001092 (chr9:69432667 T/A) 9 69432667 T A Not on a known gene +rs878927560 (chr9:69432670 T/G) 9 69432670 T G Not on a known gene +rs200888394 (chr9:69432697 A/G) 9 69432697 A G Not on a known gene +rs202014097 (chr9:69432706 G/A) 9 69432706 G A Not on a known gene +rs199959869 (chr9:69432728 G/A) 9 69432728 G A Not on a known gene +. (chr9:69640049 T/C) 9 69640049 T C No Alamut gene - other known genes: AQP7P2 AQP7P2 +. (chr9:69718839 A/C) 9 69718839 A C Not on a known gene +. (chr9:69721340 G/A) 9 69721340 G A Not on a known gene +rs4247954 (chr9:69721452 A/G) 9 69721452 A G Not on a known gene +. (chr9:69721556 A/G) 9 69721556 A G Not on a known gene +. (chr9:69721646 A/G) 9 69721646 A G Not on a known gene +. (chr9:69777428 A/G) 9 69777428 A G Not on a known gene +. (chr9:70086876 A/C) 9 70086876 A C Not on a known gene +. (chr9:70144089 A/G) 9 70144089 A G Not on a known gene +. (chr9:70144139 T/G) 9 70144139 T G Not on a known gene +rs4114512 (chr9:70144165 G/A) 9 70144165 G A Not on a known gene +. (chr9:70144166 G/A) 9 70144166 G A Not on a known gene +rs368640590 (chr9:70144181 G/A) 9 70144181 G A Not on a known gene +. 9 70176817 G A - FOXD4L5 18522 Forkhead box D4-like 5 NM_001126334.1 -1 3109 1251 NP_001119806.1 Q5VV16 substitution synonymous exon GRCh37 70176817 70176817 Chr9(GRCh37):g.70176817G>A 1167 1167 NM_001126334.1:c.1167C>T p.Ser389= p.Ser389Ser 1 transition C T C>T 0.937 0.286 S Ser AGC 0.243 S Ser AGT 0.149 389 203 PASS . . . . . . . . . . . ENSG00000204779:ENST00000377420:exon1:c.C1167T:p.S389S FOXD4L5:uc010moc.3:exon1:c.C1167T:p.S389S FOXD4L5:NM_001126334:exon1:c.C1167T:p.S389S . . 0.1724138 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 29.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S389|FOXD4L5|mRNA|CODING|NM_001126334|NM_001126334.ex.1) . . . . . . . -0.0089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000204779 FOXD4L5 FOXD4L5 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs202028497 (chr9:70182158 C/T) 9 70182158 C T Not on a known gene +rs3880885 (chr9:70194960 T/A) 9 70194960 T A Not on a known gene +rs3880886 (chr9:70195007 C/T) 9 70195007 C T Not on a known gene +rs62552651 (chr9:70206093 G/A) 9 70206093 G A Not on a known gene +. (chr9:70206152 AG/A) 9 70206152 AG A Not on a known gene +rs201972164 (chr9:70214675 C/T) 9 70214675 C T Not on a known gene +rs200316765 (chr9:70214680 C/T) 9 70214680 C T Not on a known gene +. (chr9:70214784 CTT/C) 9 70214784 CTT C Not on a known gene +rs199945716 (chr9:70214807 C/T) 9 70214807 C T Not on a known gene +rs2482146 (chr9:70214863 T/C) 9 70214863 T C Not on a known gene +. (chr9:70335036 A/C) 9 70335036 A C Not on a known gene +. (chr9:70335057 A/G) 9 70335057 A G Not on a known gene +. (chr9:70337624 A/C) 9 70337624 A C Not on a known gene +rs28718004 (chr9:70337642 A/C) 9 70337642 A C Not on a known gene +. (chr9:70394567 A/G) 9 70394567 A G Not on a known gene +rs4114513 (chr9:70394617 T/G) 9 70394617 T G Not on a known gene +. (chr9:70394643 G/A) 9 70394643 G A Not on a known gene +. (chr9:70394644 G/A) 9 70394644 G A Not on a known gene +rs12375893 (chr9:70394659 G/A) 9 70394659 G A Not on a known gene +rs9696837 (chr9:70394777 T/C) 9 70394777 T C Not on a known gene +. 9 70427733 G A - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution synonymous exon GRCh37 70427733 70427733 Chr9(GRCh37):g.70427733G>A 1167 1167 NM_199244.3:c.1167C>T p.Ser389= p.Ser389Ser 1 611085 transition C T C>T 0.260 1.174 S Ser AGC 0.243 S Ser AGT 0.149 389 230 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.C1167T:p.S389S FOXD4L2:uc004afx.1:exon1:c.C1167T:p.S389S FOXD4L4:NM_199244:exon1:c.C1167T:p.S389S . . 0.24 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . 0.0192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs10796795 9 70428061 C G - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution missense exon GRCh37 70428061 70428061 Chr9(GRCh37):g.70428061C>G 839 839 NM_199244.3:c.839G>C p.Gly280Ala p.Gly280Ala 1 611085 rs10796795 no no 0 C 0.000000 0 transversion G C G>C 0.000 0.044 G Gly GGG 0.250 A Ala GCG 0.107 280 12 2 Chimp 0 0 0 0.74 0 9 8.I 3 31 60 C0 204.94 0.00 Tolerated 0.68 II.65 255 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.G839C:p.G280A FOXD4L2:uc004afx.1:exon1:c.G839C:p.G280A FOXD4L4:NM_199244:exon1:c.G839C:p.G280A . . 0.5 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 36.0 . . . . . . . . . . -1.2793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.37 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 0.01 rs10796795 . . . . . . . . . . . . IV.52 . ENST00000377413 0.598 0.598 . 0.690000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.387 -0.387000 . . 0.690000 . . 1.0E-255 . . . . . . . . . -0.387 . . rs10796795 rs10796795 rs10796795 rs10796795 1 1538 10 1/0 0,255,255 +. 9 70428159 C T - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution synonymous exon GRCh37 70428159 70428159 Chr9(GRCh37):g.70428159C>T 741 741 NM_199244.3:c.741G>A p.Pro247= p.Pro247Pro 1 611085 transition G A G>A 0.992 0.528 P Pro CCG 0.115 P Pro CCA 0.274 247 197 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.G741A:p.P247P FOXD4L2:uc004afx.1:exon1:c.G741A:p.P247P FOXD4L4:NM_199244:exon1:c.G741A:p.P247P . . 0.15625 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.2651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 70428571 G C - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution missense exon GRCh37 70428571 70428571 Chr9(GRCh37):g.70428571G>C 329 329 NM_199244.3:c.329C>G p.Pro110Arg p.Pro110Arg 1 611085 Transcription factor, fork head transversion C G C>G 1.000 3.434 P Pro CCC 0.328 R Arg CGC 0.190 110 12 12 C. elegans -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C65 0.00 102.71 Deleterious 0 II.65 209 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.C329G:p.P110R FOXD4L2:uc004afx.1:exon1:c.C329G:p.P110R FOXD4L4:NM_199244:exon1:c.C329G:p.P110R . . 0.18390805 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . 0.2034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.29 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . VII.24 . ENST00000377413 0.598 0.598 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.655 0.655000 . . 0.000000 . . 1.0E-209 . . . . . . . . . 0.655 . . rs4929762 rs4929762 rs4929762 rs4929762 1 1538 10 1/0 0,240,255 +rs796602695 9 70428651 A G - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution synonymous exon GRCh37 70428651 70428651 Chr9(GRCh37):g.70428651A>G 249 249 NM_199244.3:c.249T>C p.Pro83= p.Pro83Pro 1 611085 rs796602695 no no 0 A 0.000000 0 transition T C T>C 0.433 -0.198 P Pro CCT 0.283 P Pro CCC 0.328 83 229 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.T249C:p.P83P FOXD4L2:uc004afx.1:exon1:c.T249C:p.P83P FOXD4L4:NM_199244:exon1:c.T249C:p.P83P . . 0.24324325 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.4487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.36 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . rs4929761 rs4929761 rs4929761 rs4929761 1 1538 10 1/0 0,255,255 +. 9 70428765 C T - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution synonymous exon GRCh37 70428765 70428765 Chr9(GRCh37):g.70428765C>T 135 135 NM_199244.3:c.135G>A p.Glu45= p.Glu45Glu 1 611085 transition G A G>A 0.496 0.932 E Glu GAG 0.583 E Glu GAA 0.417 45 227 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.G135A:p.E45E FOXD4L2:uc004afx.1:exon1:c.G135A:p.E45E FOXD4L4:NM_199244:exon1:c.G135A:p.E45E . . 0.23529412 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.3066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.27 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs3928179 rs3928179 rs3928179 rs3928179 1 1538 10 1/0 0,255,255 +. 9 70428893 G T - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution missense exon GRCh37 70428893 70428893 Chr9(GRCh37):g.70428893G>T 7 7 NM_199244.3:c.7C>A p.Leu3Met p.Leu3Met 1 611085 transversion C A C>A 0.984 -0.037 L Leu CTG 0.404 M Met ATG 1.000 3 12 10 C. elegans 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 244.82 0.00 Deleterious 0.05 II.88 222 PASS . . . . . . . . . . . ENSG00000184659:ENST00000377413:exon1:c.C7A:p.L3M FOXD4L2:uc004afx.1:exon1:c.C7A:p.L3M FOXD4L4:NM_199244:exon1:c.C7A:p.L3M . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 45.0 . . . . . . . . . . -0.9596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.27 182 ENSG00000184659 FOXD4L2 FOXD4L4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.69 . ENST00000377413 0.598 0.598 . 0.010000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.387 -0.387000 . . 0.010000 . . 1.0E-222 . . . . . . . . . -0.387 . . rs2441583 rs2441583 rs2441583 rs2441583 1 1538 10 1/0 0,255,255 +. 9 70428929 T C - FOXD4L4 23762 Forkhead box D4-like 4 NM_199244.3 -1 1251 1251 NP_954714.2 Q5VV16 substitution upstream GRCh37 70428929 70428929 Chr9(GRCh37):g.70428929T>C -30 -30 NM_199244.3:c.-30A>G p.? p.? 1 611085 transition A G A>G 0.102 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . . . . . . . . . -0.3058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 upstream . . . @ . . . 0.66 0.57 182 ENSG00000184659 FOXD4L2 FOXD4L4 ENST00000377413:c.-30A>G uc004afx.1:c.-30A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62550305 rs62550305 rs62550305 rs62550305 1 1538 10 1/0 0,255,255 +rs11263209 9 70432938 G A - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution stop gain exon GRCh37 70432938 70432938 Chr9(GRCh37):g.70432938G>A 922 922 NM_001024916.3:c.922C>T p.Arg308* p.Arg308* 12 -16 5' 87.3609 X.15 0.996078 5.19572 87.3609 X.15 0.996078 IV.02 0 Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal rs11263209 no no 0 G 0.000000 0 transition C T C>T 1.000 1.739 R Arg CGA 0.110 * * TGA 0.489 308 200 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 62.0 . . . . . . . . . . 0.5568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.48 0.63 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs11263209 . . . . . . . . . . . . 7.0452 . ENST00000489273 I.93 0.767 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.083 1.083000 . . 1.000000 . . 1.0E-200 . . . . . . . . . 1.083 . . rs11263209 rs11263209 rs2592638 rs11263209 1 1538 10 1/0 0,251,255 +. 9 70434189 T C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution missense exon GRCh37 70434189 70434189 Chr9(GRCh37):g.70434189T>C 796 796 NM_001024916.3:c.796A>G p.Ile266Val p.Ile266Val 11 -12 5' 71.7377 8.0427 0.504772 3.47914 71.7377 8.0427 0.504772 3.46027 0 New Donor Site 70434190 4.99721 0.233435 70.1044 Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal transition A G A>G 1.000 1.335 I Ile ATA 0.163 V Val GTA 0.114 266 12 11 Zebrafish 3 3 4 0 0 5.II 5.IX 111 84 29 C0 108.57 0.00 Tolerated 0.36 III.43 179 PASS . . . . . . . . . . . . . . . . 0.11214953 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 107.0 . . . . . . . . . . -0.3591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.07 . . . . . . . . . . . . . VII.45 . . I.89 I.89 . 0.380000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.866 0.866000 . . 0.380000 . . 1.0E-179 . . . . . . . . . 0.866 . . . . . . 1 1538 10 1/0 0,224,255 +. 9 70434222 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution missense exon GRCh37 70434222 70434222 Chr9(GRCh37):g.70434222C>T 763 763 NM_001024916.3:c.763G>A p.Val255Met p.Val255Met 11 22 3' 77.0626 3.27524 0.348203 2.52189 77.0626 3.27524 0.348203 1.98355 0 Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal transition G A G>A 0.945 0.609 V Val GTG 0.468 M Met ATG 1.000 255 12 8 Frog 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 107.78 0.00 Tolerated 0.1 III.43 233 PASS . . . . . . . . . . . . . . . . 0.25210086 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 119.0 . . . . . . . . . . -0.0819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.55 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . 6.1852 . . I.89 0.911 . 0.030000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.128 0.128000 . . 0.030000 . . 1.0000000000000001E-233 . . . . . . . . . 0.128 . . rs2445986 rs2445986 rs2445986 rs2445986 1 1538 10 1/0 0,232,255 +. 9 70434370 C A - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution stop gain exon GRCh37 70434370 70434370 Chr9(GRCh37):g.70434370C>A 718 718 NM_001024916.3:c.718G>T p.Glu240* p.Glu240* 10 -24 5' 83.4861 6.59747 0.610886 0 83.4861 6.59747 0.610886 0 0 Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal transversion G T G>T 1.000 3.434 E Glu GAA 0.417 * * TAA 0.277 240 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 44.0 . . . . . . . . . . 0.6692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . @ . . . 0.44 0.55 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.01 . . . . . . . . . . . . . IX.77 . ENST00000489273 I.89 I.89 . 0.190000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.047 1.047000 . . 0.190000 . . 1.0E-190 . . . . . . . . . 1.047 . . . . rs77876853 rs77876853 1 1538 10 1.I 0,0,0 +. 9 70446035 T G - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70446035 70446035 Chr9(GRCh37):g.70446035T>G 621-31 621-31 NM_001024916.3:c.621-31A>C p.? p.? 9 8 -31 3' 0 0.681481 0.880315 0 0 0.681481 0.880315 0 0 transversion A C A>C 0.323 -0.844 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.3694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 70465578 T G - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465578 70465578 Chr9(GRCh37):g.70465578T>G 575+1906 575+1906 NM_001024916.3:c.575+1906A>C p.? p.? 7 7 1906 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transversion A C A>C 0.016 0.932 198 PASS . . . . . . . . . . . . . . . . 0.15789473 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.0406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.36 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . rs12375938 rs12375938 rs12375938 rs12375938 1 1538 10 1/0 0,255,255 +. 9 70465584 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465584 70465584 Chr9(GRCh37):g.70465584C>T 575+1900 575+1900 NM_001024916.3:c.575+1900G>A p.? p.? 7 7 1900 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transition G A G>A 0.110 -0.198 199 PASS . . . . . . . . . . . . . . . . 0.26190478 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.0940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.33 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs3000521 rs3000521 rs3000521 rs3000521 1 1538 10 1/0 0,255,255 +. 9 70465589 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465589 70465589 Chr9(GRCh37):g.70465589C>T 575+1895 575+1895 NM_001024916.3:c.575+1895G>A p.? p.? 7 7 1895 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transition G A G>A 0.118 0.125 225 PASS . . . . . . . . . . . . . . . . 0.23255815 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.1763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.31 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . rs3000522 rs3000522 rs3000522 rs3000522 1 1538 10 1/0 0,255,255 +. 9 70465693 CTT C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 deletion intron GRCh37 70465694 70465695 Chr9(GRCh37):g.70465694_70465695del 575+1789 575+1790 NM_001024916.3:c.575+1789_575+1790del p.? p.? 7 7 1789 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 New Donor Site 70465696 2.336 0.108387 69.7943 AA 255 Pass . . . . . . . . . . . . . . . . 0.25 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71225120 rs71225120 rs71225120 1 1538 10 1.I 0,9,60 +. 9 70465716 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465716 70465716 Chr9(GRCh37):g.70465716C>T 575+1768 575+1768 NM_001024916.3:c.575+1768G>A p.? p.? 7 7 1768 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transition G A G>A 0.228 -0.279 240 PASS . . . . . . . . . . . . . . . . 0.2739726 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.9537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic UTR5 . . . @ . . . 0.43 0.6 182 ENSG00000147996 CBWD3 CBWD5 . . NM_001286835:c.-8523G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VI.66 . ENST00000489273 II.21 -2.67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.275 -0.275000 . . . . . 1.0E-240 . . . . . . . . . -0.275 . . rs12555584 rs12555584 rs12555584 rs12555584 1 1538 10 1/0 0,255,255 +. 9 70465772 T C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70465772 70465772 Chr9(GRCh37):g.70465772T>C 575+1712 575+1712 NM_001024916.3:c.575+1712A>G p.? p.? 7 7 1712 5' 67.527 4.56549 0.280233 0 67.527 4.56549 0.280233 0 0 transition A G A>G 0.929 0.528 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.3897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic UTR5 . . . @ . . . 0.56 0.67 182 ENSG00000147996 CBWD3 CBWD5 . . NM_001286835:c.-8579A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.17 . . . . . . . . . . . . . V.74 . . II.21 II.21 . 0.250000 . . . . . . . . . II.21 . . . . . . . . . . . . . . . . . . . . . 1.027 1.027000 . . 0.250000 . . 1.0E-231 . . . . . . . . . 1.027 . . rs2482146 rs2482146 rs2482146 rs2482146 1 1538 10 1/0 0,255,255 +. 9 70473379 C T - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70473379 70473379 Chr9(GRCh37):g.70473379C>T 528+58 528+58 NM_001024916.3:c.528+58G>A p.? p.? 6 6 58 5' 87.5573 9.72159 0.98226 0 87.5573 9.72159 0.98226 0 0 transition G A G>A 0.260 0.770 226 PASS . . . . . . . . . . . . . . . . 0.23404256 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.0432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.3 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . rs3908661 rs3908661 rs3908661 rs113253640 1 1538 10 1/0 0,255,255 +. 9 70475005 G C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution intron GRCh37 70475005 70475005 Chr9(GRCh37):g.70475005G>C 490+14 490+14 NM_001024916.3:c.490+14C>G p.? p.? 5 5 14 5' 91.1822 11.0134 0.995432 0 91.1822 11.0134 0.995432 0 0 transversion C G C>G 0.000 -0.360 222 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . -0.1296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.27 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . rs4518712 rs4518712 rs4518712 rs4518712 1 1538 10 1/0 0,255,255 +. 9 70475070 T C - CBWD5 24584 COBW domain containing 5 NM_001024916.3 -1 1612 1044 NP_001020087.2 substitution missense exon GRCh37 70475070 70475070 Chr9(GRCh37):g.70475070T>C 439 439 NM_001024916.3:c.439A>G p.Thr147Ala p.Thr147Ala 5 9 3' 93.0337 8.70211 0.723794 1.94254 93.0337 8.70211 0.748346 1.78407 0.0113071 Cobalamin (vitamin B12) biosynthesis CobW-like transition A G A>G 1.000 1.820 T Thr ACT 0.243 A Ala GCT 0.263 147 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 215.24 0.00 Tolerated 1 III.47 255 PASS . . . . . . . . . . . . . CBWD5:NM_001024916:exon5:c.A439G:p.T147A . . 0.33333334 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 33.0 . . . . . . . . . . -0.7093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.63 182 ENSG00000147996 CBWD3 CBWD5 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . VII.99 . . II.41 II.41 . 1.000000 . . . . . . . . . II.41 . . . . . . . . . . . . . . . . . . . . . 0.355 0.355000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 0.355 . . rs4631513 rs4631513 rs4631513 rs4631513 1 1538 10 1/0 0,255,255 +rs2482178 9 70866145 A G - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70866145 70866145 Chr9(GRCh37):g.70866145A>G 430+2332 430+2332 NM_201453.3:c.430+2332A>G p.? p.? 4 4 611080 2332 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 rs2482178 no no 0 0.000000 0 transition A G A>G 0.669 0.205 255 PASS . . . . . . . . . . . ENSG00000228537:ENST00000417734:exon1:c.T428C:p.M143T . . . . 0.42424244 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.4336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.25 0.04 182 ENSG00000228537 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000417734 0.13 0.13 . 0.100000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.159 0.159000 . . 0.100000 . . 1.0E-255 . . . . . . . . . 0.159 . . rs1756506 rs1756506 rs1756506 rs1756506 1 1538 10 1/0 0,255,255 +rs200404980 9 70866335 C T - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70866335 70866335 Chr9(GRCh37):g.70866335C>T 430+2522 430+2522 NM_201453.3:c.430+2522C>T p.? p.? 4 4 611080 2522 5' 86.16 9.44859 0.994431 0 86.16 9.44859 0.994431 0 0 rs200404980 no no 0 0.000000 0 0.000043 0.000142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000142 1 1 0 0 0 0 0 0 0 23362 7020 596 200 1274 0 11314 2252 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 23 Genomes transition C T C>T 0.102 0.205 249 PASS . . . . . . . . . . . ENSG00000228537:ENST00000417734:exon1:c.G238A:p.G80S . . . . 0.31034482 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.8313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.23 0.03 182 ENSG00000228537 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000417734 0.13 0.13 . 0.560000 . . . . . . . . . . . . . . . . . . . 0.0001 4.28e-05 0 0 0 0 0 0 . . . . 0.184 0.184000 . . 0.560000 . . 1.0E-249 . . . . . . . . . 0.184 . . rs1756507 rs1756507 rs1756507 rs1756507 1 1538 10 1/0 0,255,255 +rs11790792 9 70871944 G T - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70871944 70871944 Chr9(GRCh37):g.70871944G>T 490+48 490+48 NM_201453.3:c.490+48G>T p.? p.? 5 5 611080 48 5' 91.1822 11.0134 0.995432 0 91.1822 11.0134 0.995432 0 0 rs11790792 yes no Frequency/1000G 2 0.000000 0 0.141374 0.145200 0.130900 0.125000 0.146100 0.165700 transversion G T G>T 0.039 -2.297 111 PASS . . . . . 0.15 0.14 0.17 0.12 0.15 0.13 . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . -0.8578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1414 . . . 0.3 0.19 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs11790792 rs11790792 rs11790792 rs11790792 1 1538 255 1.I 0,0,255 +. 9 70873543 G A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70873543 70873543 Chr9(GRCh37):g.70873543G>A 528+58 528+58 NM_201453.3:c.528+58G>A p.? p.? 6 6 611080 58 5' 87.5573 9.72159 0.98226 0 87.5573 9.72159 0.98226 0 0 transition G A G>A 0.031 1.497 207 PASS . . . . . . . . . . . . . . . . 0.17910448 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . 0.1476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.3 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.73 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs3908661 rs3908661 rs3908661 rs113253640 1 1538 10 1/0 0,251,255 +rs200126793 9 70881158 A G - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution missense exon GRCh37 70881158 70881158 Chr9(GRCh37):g.70881158A>G 598 598 NM_201453.3:c.598A>G p.Ile200Val p.Ile200Val 8 611080 23 3' 85.0864 9.82364 0.971157 5.65979 85.0864 9.82364 0.971157 6.19013 0 CobW/HypB/UreG domain P-loop containing nucleoside triphosphate hydrolase rs200126793 no no 0 0.000000 0 COSM6378635 Thyroid 0.004016 747 transition A G A>G 0.984 0.448 I Ile ATT 0.356 V Val GTT 0.178 200 12 8 Baker's yeast 3 3 4 0 0 5.II 5.IX 111 84 29 C0 92.35 0.00 Tolerated 0.36 III.45 223 PASS . . . . . . . . . . . . . . . . 0.2244898 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.211 . @ . . . . . 1 0.323 . . 49.0 . . . . . . . . . . -0.3778 -0.270 -0.378 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.287 @ . . . 0.66 0.59 182 ENSG00000196873 CBWD3 CBWD3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . T 0.110 0.004 . . 37 . 0.268 . . 0.179 . . . 0.164 0.319 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.158 . . 0.240 . . . . . . 0 0.246 . . . . . 0.054 . 0.463 . HET 0.17 . . . . . . . . . . . . . II.46 . . III.61 II.44 . 0.180000 Q5JTY5 . . . . . 0.324 . . II.44 . . . . . . . . . . . . . . . . . . . 0.558 . 1.405 1.405000 . . 0.180000 . . 1.0E-223 1.000 0.715 . 0.456 0.981 . 0.318 . 0.332 1.405 1.062 . rs2482146 rs2482146 rs2482146 rs200126793 1 1538 10 1/0 0,255,255 +rs200932873 9 70881214 G A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution synonymous exon GRCh37 70881214 70881214 Chr9(GRCh37):g.70881214G>A 654 654 NM_201453.3:c.654G>A p.Thr218= p.Thr218Thr 8 611080 -9 5' 67.6062 3.23159 0.709382 0 67.6062 3.23159 0.709382 0 0 CobW/HypB/UreG domain P-loop containing nucleoside triphosphate hydrolase rs200932873 no no 0 0.000000 0 0.000100 0.000232 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 0.000232 2 1 0 0 0 0 1 0 0 20014 4306 546 184 1452 0 10496 2384 646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes COSM4007255 Urinary tract 0.001488 672 transition G A G>A 0.094 0.125 T Thr ACG 0.116 T Thr ACA 0.280 218 237 PASS . . . . . . . . . . . . . . . . 0.26436782 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . 0.0597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.6 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM4007255\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.993e-05 0 0 0 0 9.527e-05 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . rs12555584 rs12555584 rs12555584 rs12555584 1 1538 10 1/0 0,247,255 +. 9 70881341 G A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70881341 70881341 Chr9(GRCh37):g.70881341G>A 662+119 662+119 NM_201453.3:c.662+119G>A p.? p.? 8 8 611080 119 5' 67.6062 3.23159 0.709382 0 67.6062 3.23159 0.709382 0 0 0.000115 0.000436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000436 3 3 0 0 0 0 0 0 0 26038 6884 692 238 1552 0 13032 2848 792 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 25 Genomes transition G A G>A 0.000 -0.037 178 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 0.0431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.68 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . rs3000522 rs3000522 rs3000522 rs3000522 1 1538 10 1/0 0,240,255 +. 9 70889708 AT A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 deletion intron GRCh37 70889714 70889714 Chr9(GRCh37):g.70889714del 708-84 708-84 NM_201453.3:c.708-84del p.? p.? 10 9 611080 -84 3' 87.0175 8.16075 0.988317 1.77837 87.0175 8.16075 0.988317 1.77837 0 T 255 Pass . . . . . . . . . . . . . . . . 0.41379312 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,38 +. 9 70889877 AC A - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 deletion intron GRCh37 70889878 70889878 Chr9(GRCh37):g.70889878del 764+24 764+24 NM_201453.3:c.764+24del p.? p.? 10 10 611080 24 5' 89.5197 9.78772 0.995794 0 89.5197 9.78772 0.995794 0 0 C 255 Pass . . . . . . . . . . . . . . . . 0.14473684 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,84 +. 9 70889938 C T - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70889938 70889938 Chr9(GRCh37):g.70889938C>T 764+84 764+84 NM_201453.3:c.764+84C>T p.? p.? 10 10 611080 84 5' 89.5197 9.78772 0.995794 0 89.5197 9.78772 0.995794 0 0 Cryptic Acceptor Strongly Activated 70889950 2.33766 0.000593 65.5163 3.01432 0.001061 68.831 transition C T C>T 0.000 -1.086 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.2037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.24 182 ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs3124359 rs3124359 rs3124359 rs3124359 1 1538 10 1/0 0,255,255 +. 9 70901031 T C - CBWD3 18519 COBW domain containing 3 NM_201453.3 1 1723 1188 NP_958861.2 Q5JTY5 substitution intron GRCh37 70901031 70901031 Chr9(GRCh37):g.70901031T>C 816+75 816+75 NM_201453.3:c.816+75T>C p.? p.? 11 11 611080 75 5' 82.8297 9.65432 0.964438 2.83051 82.8297 9.65432 0.964438 2.58288 0 0.000826 0.000000 0.000000 0.000000 0.000000 0.000000 0.001452 0.000000 0.003268 0.001452 8 0 0 0 0 0 7 0 1 9688 3094 176 104 296 0 4820 892 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 7 0 1 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition T C T>C 0.000 0.205 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.1430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196873 CBWD3 CBWD3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0 0 0 0 0.0015 0.0033 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 70918001 C A - FOXD4L3 18523 Forkhead box D4-like 3 NM_199135.4 1 2218 1254 NP_954586.4 Q3SYB3 substitution missense exon GRCh37 70918001 70918001 Chr9(GRCh37):g.70918001C>A 134 134 NM_199135.4:c.134C>A p.Ala45Glu p.Ala45Glu 1 611086 0.000679 0.000454 0.001543 0.000000 0.003252 0.000000 0.000536 0.000338 0.001416 0.003252 16 3 1 0 4 0 6 1 1 23554 6610 648 204 1230 0 11194 2962 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 1 0 4 0 6 1 1 0 0 0 0 0 0 0 0 0 RF 26 Genomes COSM5956353|COSM5956353 Liver|Haematopoietic and lymphoid tissue 0.000422|0.000567 2371|3530 transversion C A C>A 0.000 -0.037 A Ala GCG 0.107 E Glu GAG 0.583 45 8 1 -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 353.86 0.00 Tolerated 1 III.63 good 9.999E-1 0.001102 199 PASS . . . . . . . . . . . ENSG00000187559:ENST00000342833:exon1:c.C134A:p.A45E FOXD4L3:uc004agm.1:exon1:c.C134A:p.A45E FOXD4L3:NM_199135:exon1:c.C134A:p.A45E . . 0.15714286 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.061 . . 70.0 . . . . . . . . . . -1.8342 -1.783 -1.834 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.938 . . exonic exonic exonic . . 0.204 @ . . . 0.33 0.23 182 ENSG00000187559 FOXD4L3 FOXD4L3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.712 0.071 . . 37 . 0.741 . . 0.641 . . . 0.008 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.228 . 0.126 . HET 0.69 . . . . . . . . . . . . . VI.66 . ENST00000342833 II.45 I.25 . 1.000000 Q6VB84 . . . . . 0.003 . . . . . . . . . . . . 0.0005 0.0007 0.0015 0 0.0033 0.0003 0.0005 0.0014 . . 0.133 . -0.024 -0.024000 . . 1.000000 . . 1.0E-199 0.264 0.248 . 0.062 0.031 . 0.256 . 0.148 -0.024 0.051 . rs2482277 rs2482277 rs2482277 rs2482277 1 1538 10 1/0 0,246,255 +. 9 70918733 C A - FOXD4L3 18523 Forkhead box D4-like 3 NM_199135.4 1 2218 1254 NP_954586.4 Q3SYB3 substitution missense exon GRCh37 70918733 70918733 Chr9(GRCh37):g.70918733C>A 866 866 NM_199135.4:c.866C>A p.Ala289Asp p.Ala289Asp 1 611086 0.001392 0.007184 0.000612 0.000000 0.000112 0.000503 0.000136 0.000000 0.000000 0.007184 105 90 7 0 1 3 4 0 0 75440 12528 11446 1402 8954 5960 29360 3576 2214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105 90 7 0 1 3 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.189 0.609 A Ala GCC 0.403 D Asp GAC 0.539 289 8 1 -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 133.94 0.00 Tolerated 1 III.45 good 9.936E-1 0.0701 184 PASS . . . . . . . . . . . ENSG00000187559:ENST00000342833:exon1:c.C866A:p.A289D FOXD4L3:uc004agm.1:exon1:c.C866A:p.A289D FOXD4L3:NM_199135:exon1:c.C866A:p.A289D . . 0.12280702 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.068 . . 57.0 . . . . . . . . . . -1.5717 -1.533 -1.572 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.942 . . exonic exonic exonic . . 0.166 @ . . . 0.42 0.37 182 ENSG00000187559 FOXD4L3 FOXD4L3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.266 . . . . D 0.758 0.092 . . 37 . 0.751 . . 0.640 . . . 0.005 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.395 . 0.149 . LowAF 1 . . . . . . . . . . . . . IX.26 0.037415 ENST00000342833 III.42 0.598 . 1.000000 Q6VB84 . . . . . 0.036 . . . 0.0039 0.0007 0.0007 0 0.0001 0 0.0002 0 0.0005 0.0093 0.0028 0 0 0 0 8.469e-05 0 . . 0.133 . 0.035 0.035000 . . 1.000000 . . 9.999999999999999E-185 0.001 0.137 . 0.090 0.005 . 0.095 . 0.125 0.035 -0.224 . rs2482270 rs2482270 rs2482270 rs2482270 1 1538 10 1/0 0,252,255 +. 9 84544422 G A - SPATA31D4 38601 SPATA31 subfamily D, member 4 NM_001145197.1 1 4923 2754 NP_001138669.1 P0C874 substitution intron GRCh37 84544422 84544422 Chr9(GRCh37):g.84544422G>A 232+6 232+6 NM_001145197.1:c.232+6G>A p.? p.? 2 2 6 5' 82.2818 8.99306 0.490344 2.54355 81.9717 8.48854 0.465035 2.58455 -0.0371616 transition G A G>A 0.008 0.609 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||SPATA31D4|mRNA|CODING|NM_001145197|) . . . . . . . -0.2345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . . SPATA31D4 SPATA31D4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 84559494 G A - SPATA31D3 38603 SPATA31 subfamily D, member 3 NM_207416.2 1 4927 2754 NP_997299.2 P0C874 substitution intron GRCh37 84559494 84559494 Chr9(GRCh37):g.84559494G>A 232+6 232+6 NM_207416.2:c.232+6G>A p.? p.? 2 2 6 5' 82.2818 8.99306 0.490344 2.54355 81.9717 8.48854 0.465035 2.58455 -0.0371616 transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.58536583 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||SPATA31D3|mRNA|CODING|NM_207416|) . . . . . . . -0.3670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . . . . . AK097447 SPATA31D3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs146724128 9 86292683 C A - UBQLN1 12508 Ubiquilin 1 NM_013438.4 -1 4168 1770 NP_038466.2 Q9UMX0 substitution missense exon GRCh37 86292683 86292683 Chr9(GRCh37):g.86292683C>A 1064 1064 NM_013438.4:c.1064G>T p.Gly355Val p.Gly355Val 6 605046 -42 5' 80.9931 9.1223 0.827372 1.56335 80.9931 9.1223 0.827372 1.92355 0 Cryptic Acceptor Strongly Activated 86292678 2.93514 0.004429 73.6303 4.16066 0.192376 80.3264 rs146724128 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.000800 0.000000 0.000000 0.005000 0.007200 0.004981 0.001416 0.004997 0.005521 0.000000 0.000617 0.007844 0.002288 0.007276 0.007844 1380 34 172 56 0 19 993 59 47 277064 24016 34420 10144 18866 30782 126590 25786 6460 0.000058 0.000000 0.000058 0.000000 0.000000 0.000000 0.000079 0.000000 0.000619 8 0 1 0 0 0 5 0 2 1364 34 170 56 0 19 983 59 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4397 12928 69 9 78 0.00802326 0.00204267 0.00599723 0.00802326 0.00204267 0.00599723 61 transversion G T G>T 1.000 2.788 G Gly GGG 0.250 V Val GTG 0.468 355 12 10 Baker's yeast -3 -3 -6 0.74 0 9 5.IX 3 84 109 C15 87.31 69.84 Deleterious 0.01 III.38 good 6.583E-2 0.07147 255 PASS 0.002 0.0041 0.01 . 0.01 0.0008 0.0022 0.0072 . 0.005 . . . . . . 0.6785714 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.796 . @ . . . . . 1 0.861 . . 56.0 . . . 0.002 0.006 0.008 0.002 0.006 0.008 . 0.6689 0.690 0.669 c . . . . . 5.185e-03 . . . 0.0015 0.0047 0.0033 0 0.0026 0.0083 0.0071 0.0003 0.0014 0.0049 0.0030 0 0.0018 0.0084 0.0087 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.798 . . exonic exonic exonic . . 0.980 0.0022 . . . 0.34 0.3 182 ENSG00000135018 UBQLN1 UBQLN1 . . . 1.000 0.489 . 450 0.00692563 64976 439 0.00731837 59986 Uncertain_significance . 0 . 0.523 . . . . D 0.878 0.221 . . 37 . 0.858 . . 0.848 . . . 0.794 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.584 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.721 . . . . . 0.799 . 0.985 . HET 0.03 rs146724128 . . . . . . . 0.004120879120879121 0.0020325203252032522 0.011049723756906077 0.0 0.005277044854881266 15.993 0.002675 . 6.IV 6.IV . 0.310000 . . . Name\x3dnsv893512 0.005997 . 0.929 . . 6.IV 0.0011 0.0050 0.0050 0.0055 0 0.0022 0.0080 0.0071 0.0006 0.0020 0.0047 0.0048 0.0066 0 0.0029 0.0069 0.0082 . . 0.730 . 2.873 2.873000 . . 0.310000 . . 1.0E-255 1.000 0.715 . 0.361 0.068 . 0.632 . 0.490 2.873 0.871 0.01 . . rs146724128 rs146724128 1 1538 10 1/0 0,255,255 +rs140176368 9 90296694 G A - DAPK1 2674 Death-associated protein kinase 1 NM_001288729.1 1 5773 4293 NP_001275658.1 P53355 substitution intron GRCh37 90296694 90296694 Chr9(GRCh37):g.90296694G>A 2224+153 2224+153 NM_001288729.1:c.2224+153G>A p.? p.? 20 20 600831 153 5' 84.5905 9.78584 0.961217 VI.69 84.5905 9.78584 0.961217 VI.69 0 rs140176368 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008900 0.001400 0.004649 0.000272 0.001565 0.000760 0.000000 0.002377 0.005439 0.029678 0.008333 0.029678 612 4 33 4 0 34 295 210 32 131638 14720 21086 5264 11110 14302 54240 7076 3840 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000848 0.000521 4 0 0 0 0 0 0 3 1 604 4 33 4 0 34 295 204 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.117 255 PASS . 0.0032 . . 0.01 . 0.0022 0.0014 . 0.0089 0.001 . . . . . 0.6363636 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.0325 . . . . . . . . 1.639e-03 . . . 0 0.0043 0 0 0 0.0047 0.0192 0.0055 0 0.0048 0 0 0 0.0061 0 0.0055 . . . . . . intronic UTR3 intronic . . . 0.0022 . . . 0.21 0.1 182 ENSG00000196730 DAPK1 DAPK1 . uc004apf.1:c.*25G>A . . . . 365 0.00561746 64976 354 0.00590138 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140176368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0038 0.0015 0.0008 0 0.0329 0.0046 0.0056 0.0024 0.0002 0.0073 0.0036 0 0 0.0263 0.0075 0.0163 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs140176368 rs140176368 1 1538 10 1/0 0,255,255 +rs9410979 (chr9:90529584 C/T) 9 90529584 C T Not on a known gene +. 9 90533053 C T - SPATA31C1 27846 SPATA31 subfamily C, member 1 NM_001145124.1 1 3779 3567 NP_001138596.1 substitution missense exon GRCh37 90533053 90533053 Chr9(GRCh37):g.90533053C>T 148 148 NM_001145124.1:c.148C>T p.Arg50Cys p.Arg50Cys 1 -42 5' 94.6745 X.23 0.997863 5.64446 94.6745 X.23 0.997863 5.58854 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.008 0.125 R Arg CGT 0.082 C Cys TGT 0.448 50 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 252 PASS . . . . . . . . . . . . SPATA31C1:uc010mqi.3:exon1:c.C148T:p.R50C SPATA31C1:NM_001145124:exon1:c.C148T:p.R50C . . 0.3181818 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R50C|SPATA31C1|mRNA|CODING|NM_001145124|NM_001145124.ex.1) . . . . . . . -0.1261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.5 0.34 182 ENSG00000230246 SPATA31C1 SPATA31C1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . rs9410979 rs76280003 1 1538 10 1/0 0,255,255 +rs541228990 9 91991991 G C - SEMA4D 10732 Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D NM_006378.3 -1 4628 2589 NP_006369.3 Q92854 substitution downstream GRCh37 91991991 91991991 Chr9(GRCh37):g.91991991G>C *1628 *1628 NM_006378.3:c.*1628C>G p.? p.? 18 601866 2554 3' 89.7256 8.50039 0.863744 4.43547 89.7256 8.50039 0.863744 4.43547 0 transversion C G C>G 1.000 1.900 255 PASS . . . . . . . . . . . . . . . . 0.5263158 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . I.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . 0.0014 . . . . . . ENSG00000187764 SEMA4D SEMA4D ENST00000450295:c.*1628C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv29434 . . . . . IV.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs751136329 9 94867423 C T - SPTLC1 11277 Serine palmitoyltransferase, long chain base subunit 1 NM_001281303.1 -1 2825 1542 NP_001268232.1 substitution intron GRCh37 94867423 94867423 Chr9(GRCh37):g.94867423C>T 260+3599 260+3599 NM_001281303.1:c.260+3599G>A p.? p.? 3 3 605712 3599 5' 78.581 5.82854 0.792011 0 78.581 5.82854 0.792011 0 0 rs751136329 no no 0 C 0.000000 0 transition G A G>A 0.016 0.448 191 PASS . . . . . . . . . . . . . . . . 0.13793103 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.3221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000090054 SPTLC1 SPTLC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs751136329 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +rs200123001 9 94867445 G T - SPTLC1 11277 Serine palmitoyltransferase, long chain base subunit 1 NM_001281303.1 -1 2825 1542 NP_001268232.1 substitution intron GRCh37 94867445 94867445 Chr9(GRCh37):g.94867445G>T 260+3577 260+3577 NM_001281303.1:c.260+3577C>A p.? p.? 3 3 605712 3577 5' 78.581 5.82854 0.792011 0 78.581 5.82854 0.792011 0 0 rs200123001 yes no Frequency 1 G 0.000000 0 0.000099 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 0.000292 0.000000 0.000292 3 0 0 0 0 0 2 1 0 30276 8476 826 294 1616 0 14678 3420 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transversion C A C>A 0.000 -2.377 186 PASS . . . . . . . . . . . . . . . . 0.12643678 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.9417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.09 182 ENSG00000090054 SPTLC1 SPTLC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200123001 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831653 . . . . . . . . . . . . . . . 0 9.909e-05 0 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs200123001 rs200123001 1 1538 10 1/0 0,234,255 +rs201922457 9 96305496 T C - FAM120A 13247 Family with sequence similarity 120A NM_014612.4 1 5152 3357 NP_055427.2 Q9NZB2 substitution intron GRCh37 96305496 96305496 Chr9(GRCh37):g.96305496T>C 1910-8 1910-8 NM_014612.4:c.1910-8T>C p.? p.? 11 10 612265 -8 3' 86.9704 8.75986 0.981719 7.44383 85.4758 9.28485 0.978939 7.80643 0.0133048 rs201922457 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000546 0.000167 0.000467 0.000000 0.000053 0.000228 0.000870 0.000389 0.000465 0.000870 151 4 16 0 1 7 110 10 3 276518 23986 34290 10120 18848 30710 126412 25700 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 4 16 0 1 7 110 10 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 72 transition T C T>C 0.016 0.609 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5897436 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . 0.6255 . . . . . . . . 4.973e-04 . . . 0.0002 0.0005 0.0003 0 0.0008 0.0008 0 0.0003 0.0001 0.0004 0.0003 0 0.0006 0.0006 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.63 0.33 182 ENSG00000048828 FAM120A FAM120A . . . . . . 52 0.000800296 64976 51 0.000850198 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201922457 . . . . . . . . . . . . . . . . . . . . 0.0002 0.002 . 0.000384 . . . . III.84 0.0001 0.0005 0.0005 0 5.805e-05 0.0004 0.0008 0.0004 0.0002 0.0002 0.0008 0 0 0 0.0003 0.0013 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs201922457 rs201922457 1 1538 10 1/0 0,255,255 +. 9 102713470 C G - STX17 11432 Syntaxin 17 NM_017919.2 1 6908 909 NP_060389.2 P56962 substitution synonymous exon GRCh37 102713470 102713470 Chr9(GRCh37):g.102713470C>G 318 318 NM_017919.2:c.318C>G p.Leu106= p.Leu106Leu 4 604204 -98 5' 71.0227 IV.44 0.042297 0 71.0227 IV.44 0.042297 0 0 transversion C G C>G 0.984 -0.117 L Leu CTC 0.197 L Leu CTG 0.404 106 255 PASS . . . . . . . . . . . . . STX17:NM_017919:exon4:c.C318G:p.L106L . . 0.52112675 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctG|L106|STX17|mRNA|CODING|NM_017919|NM_017919.ex.4) . . . . . . . 1.0765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000136874 STX17 STX17 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs138931600 9 112141794 G A - PTPN3 9655 Protein tyrosine phosphatase, non-receptor type 3 NM_002829.3 -1 6716 2742 NP_002820.3 P26045 substitution 3'UTR GRCh37 112141794 112141794 Chr9(GRCh37):g.112141794G>A *42 *42 NM_002829.3:c.*42C>T p.? p.? 26 176877 120 3' 95.6592 9.61006 0.993192 8.64872 95.6592 9.61006 0.993192 8.64872 0 rs138931600 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000000 0.002000 0.000000 0.008900 0.010100 0.006606 0.001541 0.003227 0.015295 0.000000 0.002928 0.009965 0.004959 0.007273 0.015295 1828 37 111 155 0 90 1261 127 47 276724 24004 34396 10134 18842 30736 126542 25608 6462 0.000087 0.000000 0.000000 0.000197 0.000000 0.000000 0.000126 0.000234 0.000000 12 0 0 1 0 0 8 3 0 1804 37 111 153 0 90 1245 121 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4395 12900 95 11 106 0.0110465 0.0024966 0.00815008 0.0110465 0.0024966 0.00815008 61 transition C T C>T 0.000 0.125 255 PASS . 0.01 0.01 . 0.01 . 0.0036 0.01 . 0.0089 0.002 . . . . . 0.48076922 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 52.0 . . . 0.0025 0.0081 0.011 0.0025 0.0082 0.011 . 0.2764 . . . . . . . . 6.717e-03 . . . 0.0015 0.0063 0.0026 0 0.0037 0.0109 0.0154 0.0027 0.0014 0.0063 0.0026 0 0.0032 0.0102 0.0173 0.0028 . . . . . . UTR3 UTR3 UTR3 . . . 0.0036 . . . 0.69 0.53 182 ENSG00000070159 PTPN3 PTPN3 . . . . . . 517 0.00795678 64976 500 0.00833528 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138931600 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831685 0.008150 . . . . . 0.0013 0.0066 0.0032 0.0153 0 0.0046 0.0100 0.0075 0.0029 0.0020 0.0067 0.0048 0.0166 0 0.0074 0.0099 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138931600 rs138931600 1 1538 10 1/0 0,255,255 +rs146486489 9 112144686 T C - PTPN3 9655 Protein tyrosine phosphatase, non-receptor type 3 NM_002829.3 -1 6716 2742 NP_002820.3 P26045 substitution synonymous exon GRCh37 112144686 112144686 Chr9(GRCh37):g.112144686T>C 2424 2424 NM_002829.3:c.2424A>G p.Ala808= p.Ala808Ala 24 176877 42 3' 80.9277 VII.92 0.815582 9.18259 80.9277 VII.92 0.815582 9.26167 0 Protein-tyrosine phosphatase, receptor/non-receptor type Dual specificity phosphatase, catalytic domain Protein-tyrosine phosphatase, catalytic Protein-tyrosine phosphatase, non-receptor type-3, -4 rs146486489 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.002000 0.000000 0.008900 0.010100 0.006656 0.001540 0.003341 0.015268 0.000000 0.002924 0.010041 0.005002 0.007267 0.015268 1845 37 115 155 0 90 1272 129 47 277186 24032 34420 10152 18866 30780 126680 25788 6468 0.000079 0.000000 0.000000 0.000197 0.000000 0.000000 0.000111 0.000233 0.000000 11 0 0 1 0 0 7 3 0 1823 37 115 153 0 90 1258 123 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8504 4395 12899 96 11 107 0.0111628 0.0024966 0.00822697 0.0111628 0.0024966 0.00822697 185 transition A G A>G 0.016 -2.619 A Ala GCA 0.226 A Ala GCG 0.107 808 255 PASS . 0.01 0.01 . 0.01 . 0.0036 0.01 . 0.0089 0.002 . . . . . 0.45112783 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 133.0 . . . 0.0025 0.0082 0.011 0.0025 0.0082 0.011 . 0.1135 . . . . . . . . 6.748e-03 . . . 0.0015 0.0064 0.0026 0 0.0037 0.0109 0.0169 0.0027 0.0014 0.0063 0.0026 0 0.0032 0.0101 0.0173 0.0027 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.49 0.3 182 ENSG00000070159 PTPN3 PTPN3 . . . . . . 512 0.00787983 64976 495 0.00825192 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146486489 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831685 0.008227 . . . . . 0.0013 0.0066 0.0033 0.0152 0 0.0046 0.0100 0.0075 0.0029 0.0019 0.0068 0.0048 0.0166 0 0.0074 0.0101 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs146486489 rs146486489 1 1538 10 1/0 0,247,255 +rs763753688 9 112151519 T C - PTPN3 9655 Protein tyrosine phosphatase, non-receptor type 3 NM_002829.3 -1 6716 2742 NP_002820.3 P26045 substitution synonymous exon GRCh37 112151519 112151519 Chr9(GRCh37):g.112151519T>C 2247 2247 NM_002829.3:c.2247A>G p.Arg749= p.Arg749Arg 22 176877 -7 5' 91.0392 X.88 0.994824 6.14427 91.0392 X.88 0.994505 5.59417 -0.000106887 Protein-tyrosine phosphatase, receptor/non-receptor type Protein-tyrosine phosphatase, non-receptor type-3, -4 rs763753688 yes no Frequency 1 T 0.000000 0 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000063 7 0 0 0 0 0 7 0 0 246120 15302 33560 9844 17234 30754 111650 22292 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes transition A G A>G 1.000 0.609 R Arg CGA 0.110 R Arg CGG 0.207 749 255 PASS . . . . . . . . . . . . . . . . 0.53125 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 64.0 . . . . . . . . . . I.11 . . . . . . . . 1.579e-05 . . . 0 1.109e-05 0 0 0 2.384e-05 0 0 0 1.892e-05 0 0 0 3.691e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000070159 PTPN3 PTPN3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs763753688 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831685 . . . . . . 0 2.844e-05 0 0 0 0 6.27e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs536043648 9 112852824 G A - AKAP2 372 A kinase (PRKA) anchor protein 2 NM_001198656.1 1 7003 2886 NP_001185585.1 substitution intron GRCh37 112852824 112852824 Chr9(GRCh37):g.112852824G>A 156+41689 156+41689 NM_001198656.1:c.156+41689G>A p.? p.? 1 1 604582 41689 5' 82.5023 7.07454 0.860641 XII.72 82.5023 7.07454 0.860641 XII.72 0 New Acceptor Site 112852826 1.48502 0.000106 66.7306 rs536043648 yes no Frequency 1 G 0.000000 0 0.000355 0.000000 0.000000 0.009934 0.000000 0.000000 0.000533 0.000000 0.000000 0.009934 11 0 0 3 0 0 8 0 0 30966 8720 838 302 1620 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 3 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.4054054 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536043648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0.0099 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs536043648 9 112852824 G A - PALM2-AKAP2 33529 PALM2-AKAP2 readthrough NM_007203.4 1 7519 3312 NP_009134.1 substitution intron GRCh37 112852824 112852824 Chr9(GRCh37):g.112852824G>A 583-45583 583-45583 NM_007203.4:c.583-45583G>A p.? p.? 8 7 -45583 3' 88.5709 7.79875 0.930911 6.04007 88.5709 7.79875 0.930911 6.04007 0 New Acceptor Site 112852826 1.48502 0.000106 66.7306 rs536043648 yes no Frequency 1 G 0.000000 0 0.000355 0.000000 0.000000 0.009934 0.000000 0.000000 0.000533 0.000000 0.000000 0.009934 11 0 0 3 0 0 8 0 0 30966 8720 838 302 1620 0 15010 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 3 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.4054054 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536043648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0.0099 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs142041184 9 115805169 C T - ZFP37 12863 ZFP37 zinc finger protein NM_001282515.1 -1 2951 1938 NP_001269444.1 substitution missense exon GRCh37 115805169 115805169 Chr9(GRCh37):g.115805169C>T 1774 1774 NM_001282515.1:c.1774G>A p.Glu592Lys p.Glu592Lys 4 602951 1380 3' 73.6718 6.50929 0.455571 1.95215 73.6718 6.50929 0.455571 1.95215 0 rs142041184 yes no Frequency 1 C 0.000000 0 0.000813 0.000125 0.000960 0.015871 0.000053 0.000000 0.000158 0.000000 0.001087 0.015871 225 3 33 161 1 0 20 0 7 276608 24014 34386 10144 18862 30754 126254 25754 6440 0.000007 0.000000 0.000000 0.000197 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 223 3 33 159 1 0 20 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4405 13000 5 1 6 0.000581395 0.000226963 0.000461326 0.000581395 0.000226963 0.000461326 154 COSM1104165 Endometrium 0.001524 656 transition G A G>A 0.866 1.416 E Glu GAA 0.417 K Lys AAA 0.425 592 12 10 Frog 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 138.34 8.XI Tolerated 0.14 III.32 197 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.701 . @ . . . . . 1 0.638 . . 52.0 . . . 0.0002 0.0005 0.0006 0.0002 0.0005 0.0006 . 0.0088 -0.037 0.009 c . . . . . . . . . 0.0003 0.0010 0.0008 0 0 0.0017 0.0042 0 0.0003 0.0008 0.0007 0 0 0.0012 0.0043 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.372 @ . . . 0.65 0.4 182 ENSG00000136866 ZFP37 ZFP37 . . . 0.003 0.102 . 16 0.000246245 64976 16 0.000266729 59986 Uncertain_significance . 0 . 0.452 . . . . T 0.095 0.004 . . 37 . 0.125 . . 0.037 . . . 0.136 0.275 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.764 . . 0.580 . . . . . . 0 0.225 . . . . . 0.513 . 0.547 . HET 0.11 rs142041184 . . . . . . ID\x3dCOSM1104165\x3bOCCURENCE\x3d1(endometrium) . . . . . XI.81 2.68E-4 . IV.25 III.34 . 0.130000 . . . . 0.000461 . 0.002 . . III.34 0.0002 0.0009 0.0010 0.0161 0 0 0.0002 0.0013 0 0 0.0001 0 0.0099 0.0006 0 0 0 . . 0.428 . 1.361 1.361000 . . 0.130000 . . 1.0E-197 0.000 0.063 . 0.750 0.996 . 0.102 . 0.362 1.361 0.871 0.0006 . . rs142041184 rs142041184 1 1538 10 1/0 0,255,255 +. 9 115805177 T G - ZFP37 12863 ZFP37 zinc finger protein NM_001282515.1 -1 2951 1938 NP_001269444.1 substitution missense exon GRCh37 115805177 115805177 Chr9(GRCh37):g.115805177T>G 1766 1766 NM_001282515.1:c.1766A>C p.Glu589Ala p.Glu589Ala 4 602951 1372 3' 73.6718 6.50929 0.455571 1.95215 73.6718 6.50929 0.455571 1.95215 0 Cryptic Donor Weakly Activated 115805175 5.12744 0.014698 69.3636 5.28372 0.023699 69.6702 transversion A C A>C 0.276 0.609 E Glu GAA 0.417 A Ala GCA 0.226 589 12 9 Dolphin -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 181.32 0.00 Tolerated 0.69 III.32 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.517 . @ . . . . . 1 0.506 . . 50.0 . . . . . . . . . . -0.3341 -0.245 -0.334 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.074 . . exonic exonic exonic . . 0.495 @ . . . . . . ENSG00000136866 ZFP37 ZFP37 . . . 0.002 0.094 . . . . . . . Uncertain_significance . 0 . 0.232 . . . . T 0.128 0.005 . . 37 . 0.059 . . 0.371 . . . 0.028 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.692 . . 0 0 0 0 0 0 . 0.371 . . 0.410 . . . . . . 0 0.241 . . . . . 0.299 . 0.318 . HET 0.14 . . . . . . . . . . . . . 8.1056 . . IV.25 IV.25 . 0.280000 . . . . . . 0.002 . . IV.25 . . . . . . . . . . . . . . . . . . . 0.428 . 2.142 2.142000 . . 0.280000 . . 1.0E-200 0.000 0.063 . 0.888 0.998 . 0.239 . 0.580 2.142 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs748596534 9 115805182 A T - ZFP37 12863 ZFP37 zinc finger protein NM_001282515.1 -1 2951 1938 NP_001269444.1 substitution synonymous exon GRCh37 115805182 115805182 Chr9(GRCh37):g.115805182A>T 1761 1761 NM_001282515.1:c.1761T>A p.Pro587= p.Pro587Pro 4 602951 1367 3' 73.6718 6.50929 0.455571 1.95215 73.6718 6.50929 0.455571 1.95215 0 rs748596534 yes no Frequency 1 A 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 0.000130 4 0 0 0 0 4 0 0 0 245610 15294 33538 9838 17246 30734 111250 22248 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes transversion T A T>A 0.268 -0.682 P Pro CCT 0.283 P Pro CCA 0.274 587 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.7759 . . . . . . . . 1.579e-05 . . . 0 2.208e-05 0 0 0 0 0 0.0001 0 1.886e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000136866 ZFP37 ZFP37 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748596534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.629e-05 0 0 0 0 0 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749361137 9 115805188 C T - ZFP37 12863 ZFP37 zinc finger protein NM_001282515.1 -1 2951 1938 NP_001269444.1 substitution synonymous exon GRCh37 115805188 115805188 Chr9(GRCh37):g.115805188C>T 1755 1755 NM_001282515.1:c.1755G>A p.Glu585= p.Glu585Glu 4 602951 1361 3' 73.6718 6.50929 0.455571 1.95215 73.6718 6.50929 0.455571 1.95215 0 rs749361137 yes no Frequency 1 C 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 0.000130 4 0 0 0 0 4 0 0 0 245550 15292 33534 9824 17248 30734 111224 22240 5454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 PASS 59 Exomes transition G A G>A 1.000 1.900 E Glu GAG 0.583 E Glu GAA 0.417 585 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . I.99 . . . . . . . . 1.579e-05 . . . 0 2.207e-05 0 0 0 0 0 0.0001 0 1.886e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000136866 ZFP37 ZFP37 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749361137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.53 0 1.629e-05 0 0 0 0 0 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 115872344 A C - FAM225B 21865 Family with sequence similarity 225, member B (non-protein coding) NR_024376.1 -1 5806 0 substitution exon GRCh37 115872344 115872344 Chr9(GRCh37):g.115872344A>C 465 465 NR_024376.1:n.465T>G 3 90 3' 90.2849 9.81126 0.926436 X.25 90.2849 9.81126 0.926436 X.25 0 transversion T G T>G 0.024 0.205 255 PASS . . . . . . . . . . . . . . . . 0.47826087 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.0202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000225684 FAM225B FAM225B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 115872356 T TCG - FAM225B 21865 Family with sequence similarity 225, member B (non-protein coding) NR_024376.1 -1 5806 0 insertion exon GRCh37 115872356 115872357 Chr9(GRCh37):g.115872356_115872357insCG 452 453 NR_024376.1:n.452_453insCG 3 77 3' 90.2849 9.81126 0.926436 X.25 90.2849 9.81126 0.926436 X.31 0 rs201905251 yes no Frequency/1000G 2 0.000000 0 CG 255 Pass 0.09 0.11 0.09 0.12 0.14 . . . . . . . . . . . 0.46666667 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 60 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . . . . . . . . ENSG00000225684 FAM225B FAM225B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201905251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 . . rs201905251 rs201905251 1 1538 10 1.I 0,12,33 +. 9 115876775 G GGC - FAM225A 27855 Family with sequence similarity 225, member A (non-protein coding) XR_242589.1 1 5985 0 insertion exon GRCh37 115876776 115876777 Chr9(GRCh37):g.115876776_115876777insCG 635 636 XR_242589.1:n.635_636insCG 2 77 3' 90.2849 9.81126 0.926436 X.25 90.2849 9.81126 0.926436 X.31 0 rs201606800 yes no Frequency/1000G 2 0.000000 0 CG 255 Pass 0.08 0.13 0.11 0.17 0.16 . . . . . . . . . . . 0.40384614 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 52 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . . . . . . . . ENSG00000231528 FAM225A FAM225A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201606800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.17 . . rs201606800 rs201606800 1 1538 10 1.I 0,12,39 +. 9 115876789 T G - FAM225A 27855 Family with sequence similarity 225, member A (non-protein coding) XR_242589.1 1 5985 0 substitution exon GRCh37 115876789 115876789 Chr9(GRCh37):g.115876789T>G 648 648 XR_242589.1:n.648T>G 2 90 3' 90.2849 9.81126 0.926436 X.25 90.2849 9.81126 0.926436 X.25 0 transversion T G T>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.4347826 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.2928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000231528 FAM225A FAM225A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs80016484 9 117086295 T C - ORM1 8498 Orosomucoid 1 NM_000607.2 1 839 606 NP_000598.2 P02763 substitution splice site GRCh37 117086295 117086295 Chr9(GRCh37):g.117086295T>C 258-3 258-3 NM_000607.2:c.258-3T>C p.? p.? 3 2 138600 -3 3' 79.0403 8.52772 0.937513 5.25314 85.217 8.43579 0.908624 5.63178 0.012184 rs80016484 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000076 0.000042 0.000000 0.000000 0.000000 0.000000 0.000158 0.000000 0.000000 0.000158 21 1 0 0 0 0 20 0 0 277212 24022 34420 10152 18862 30782 126714 25792 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 0 0 0 0 20 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -1.651 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.4609929 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 141.0 . . INTRON(MODIFIER||||ORM1|mRNA|CODING|NM_000607|) . . . . . . . 1.0324 . . . . . . . . 1.184e-04 . . . 0 0.0001 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.21 0.31 182 ENSG00000229314 ORM1 ORM1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80016484 . . . . . . . . . . . . . . . . . . . . 0 0.052 . . . . . . . 6.534e-05 8.121e-05 0 0 0 0 0.0002 0 0 0 3.231e-05 0 0 0 0 6.665e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80016484 rs80016484 1 1538 10 1/0 0,245,255 +rs72616627 9 122004546 A G - BRINP1 2687 Bone morphogenetic protein/retinoic acid inducible neural-specific 1 NM_014618.2 -1 3196 2286 NP_055433.2 O60477 substitution intron GRCh37 122004546 122004546 Chr9(GRCh37):g.122004546A>G 410-52 410-52 NM_014618.2:c.410-52T>C p.? p.? 4 3 602865 -52 3' 92.6706 9.82566 0.962746 XI.07 92.6706 9.82566 0.962746 XI.94 0 rs72616627 yes no Frequency 1 A 0.000000 0 0.000010 0.000000 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000207 0.000034 2 0 1 0 0 0 0 0 1 209668 13244 29600 8344 15482 26002 92364 19810 4822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 40 Exomes transition T C T>C 0.000 -0.682 111 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||BRINP1|mRNA|CODING|NM_014618|) . . . . . . . 0.1541 . . . . . . . . 7.546e-04 . . . 0 0.0001 0 0 0 0.0002 0 0.0004 0 0.0001 0 0 0 0.0002 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.31 182 ENSG00000078725 DBC1 BRINP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs72616627 . 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7434 . . . . . . 0 9.539e-06 3.378e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . rs72616627 rs72616627 rs72616627 1 1538 10 1.I 60,1,0 +rs138402441 9 125424451 C T - OR1L1 8213 Olfactory receptor, family 1, subfamily L, member 1 NM_001005236.3 1 933 933 NP_001005236.3 substitution missense exon GRCh37 125424451 125424451 Chr9(GRCh37):g.125424451C>T 457 457 NM_001005236.3:c.457C>T p.His153Tyr p.His153Tyr 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs138402441 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.001133 0.000416 0.000552 0.000197 0.000000 0.000097 0.002108 0.000039 0.001856 0.002108 314 10 19 2 0 3 267 1 12 277118 24038 34420 10152 18866 30782 126678 25716 6466 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 312 10 19 2 0 1 267 1 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8589 4405 12994 11 1 12 0.00127907 0.000226963 0.000922651 0.00127907 0.000226963 0.000922651 339 transition C T C>T 0.000 -0.117 H His CAT 0.413 Y Tyr TAT 0.438 153 4 3 Cow 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C35 24.VIII 83.33 Tolerated 0.13 III.73 bad 8.463E-3 0.0005559 255 PASS . 0.0009 0.01 . . . 0.0004 0.0029 . . . . OR1L1:uc022bmz.1:exon1:c.C457T:p.H153Y OR1L1:NM_001005236:exon1:c.C457T:p.H153Y . . 0.45925927 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.109 . . 135.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H153Y|OR1L1|mRNA|CODING|NM_001005236|NM_001005236.ex.1) 0.0002 0.0009 0.0013 0.0002 0.0009 0.0013 . -1.3232 -1.382 -1.323 c . . . . . 1.460e-03 . . . 0.0004 0.0011 0.0009 0 0 0.0020 0 0.0002 0.0004 0.0014 0.0009 0 0 0.0025 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.001 . . exonic exonic exonic . . 0.067 0.0004 . . . 0.21 0.22 182 ENSG00000173679 OR1L1 OR1L1 . . . 0.860 0.252 . 77 0.00118505 64976 75 0.00125029 59986 Uncertain_significance . 0 . . . . . . T 0.021 0.001 . . 37 . 0.001 . . 0.320 . . . 0.357 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.587 . . 0 0 0 0 0 0 . 0.090 . . 0.179 . . . . . . 0 0.108 . . . . . 0.383 . 0.243 . HET 0.46 rs138402441 . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 IX.13 2.68E-4 . III.26 -2.12 . 1.000000 Q8NH94 . . . 0.000923 . 0.057 . . . 0.0003 0.0012 0.0006 0.0002 0 4.5e-05 0.0023 0.0016 9.746e-05 0.0006 0.0007 0 0 0 0 0.0010 0.0031 . . 0.133 . -0.452 -0.452000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.036 . 0.110 -0.452 -0.058 0.01 . . rs138402441 rs138402441 1 1538 10 1/0 0,244,255 +. 9 127990127 C T - RABEPK 16896 Rab9 effector protein with kelch motifs NM_005833.3 1 1628 1119 NP_005824.2 Q7Z6M1 substitution intron GRCh37 127990127 127990127 Chr9(GRCh37):g.127990127C>T 527-62 527-62 NM_005833.3:c.527-62C>T p.? p.? 6 5 605962 -62 3' 85.9601 7.19953 0.875425 6.14501 85.9601 7.19953 0.875425 6.19291 0 transition C T C>T 0.000 -1.570 238 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.2355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000136933 RABEPK RABEPK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 129097606 C T - MVB12B 23368 Multivesicular body subunit 12B NM_033446.2 1 4824 960 NP_258257.1 Q9H7P6 substitution intron GRCh37 129097606 129097606 Chr9(GRCh37):g.129097606C>T 82-5181 82-5181 NM_033446.2:c.82-5181C>T p.? p.? 2 1 -5181 3' 81.3105 8.38891 0.844163 8.36378 81.3105 8.38891 0.844163 8.36378 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 141516 6494 23846 8084 10122 22590 51200 15446 3734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 90 Exomes transition C T C>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 0.5389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . . . . ENSG00000196814 MVB12B MVB12B . uc011lzy.2:c.-45C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.066e-06 0 0 0 0 1.953e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs145434007 9 129184108 T C - MVB12B 23368 Multivesicular body subunit 12B NM_033446.2 1 4824 960 NP_258257.1 Q9H7P6 substitution intron GRCh37 129184108 129184108 Chr9(GRCh37):g.129184108T>C 663-25 663-25 NM_033446.2:c.663-25T>C p.? p.? 7 6 -25 3' 89.9544 10.1552 0.981503 13.81 89.9544 10.1552 0.981503 13.5977 0 rs145434007 yes no Frequency/1000G 2 T 0.000000 0 0.002995 0.000000 0.001000 0.000000 0.008000 0.008600 0.005962 0.001331 0.003313 0.000591 0.000000 0.001462 0.008659 0.012372 0.006188 0.012372 1652 32 114 6 0 45 1096 319 40 277068 24034 34414 10150 18870 30774 126578 25784 6464 0.000094 0.000000 0.000000 0.000000 0.000000 0.000130 0.000142 0.000155 0.000000 13 0 0 0 0 2 9 2 0 1626 32 114 6 0 41 1078 315 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8512 4394 12906 88 12 100 0.0102326 0.00272356 0.00768876 0.0102326 0.00272356 0.00768876 131 transition T C T>C 0.465 0.125 255 PASS . 0.01 0.01 . 0.01 . 0.003 0.0086 . 0.008 0.001 . . . . . 0.4817073 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 164.0 . . INTRON(MODIFIER||||MVB12B|mRNA|CODING|NM_033446|) 0.0027 0.0077 0.01 0.0027 0.0077 0.01 . 0.6482 . . . . . . . . 5.777e-03 . . . 0.0015 0.0051 0.0031 0 0.0132 0.0079 0.0084 0.0013 0.0015 0.0052 0.0031 0 0.0122 0.0073 0.0072 0.0013 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.4 0.26 182 ENSG00000196814 MVB12B MVB12B . . . . . . 459 0.00706415 64976 444 0.00740173 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145434007 . . . . . . . . . . . . . . . . . . . . . . . 0.007689 . . . . . 0.0014 0.0058 0.0033 0.0006 0 0.0124 0.0085 0.0049 0.0015 0.0013 0.0070 0.0036 0 0 0.0123 0.0098 0.0132 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145434007 rs145434007 1 1538 10 1/0 0,236,253 +. 9 130533517 C T - SH2D3C 16884 SH2 domain containing 3C NM_170600.2 -1 3154 2583 NP_733745.1 Q8N5H7 substitution intron GRCh37 130533517 130533517 Chr9(GRCh37):g.130533517C>T 515+2752 515+2752 NM_170600.2:c.515+2752G>A p.? p.? 2 2 604722 2752 5' 89.6127 X.54 0.983224 X.77 89.6127 X.54 0.983224 X.77 0 rs1056883512 yes no Frequency 1 C 0.000000 0 0.000035 0.000000 0.000085 0.000000 0.000000 0.000000 0.000044 0.000055 0.000000 0.000085 6 0 2 0 0 0 3 1 0 170818 15446 23430 8154 10858 22210 67772 18318 4630 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 2 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.4716981 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . I.96 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000095370 SH2D3C SH2D3C ENST00000373277:c.-9G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.574e-05 8.853e-05 0 0 6.743e-05 3.788e-05 0 0 0 3.236e-05 0 0 0 0 6.679e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs527820256 9 130996365 C T - DNM1 2972 Dynamin 1 NM_001288739.1 1 3245 2595 NP_001275668.1 Q05193 substitution synonymous exon GRCh37 130996365 130996365 Chr9(GRCh37):g.130996365C>T 1401 1401 NM_001288739.1:c.1401C>T p.Arg467= p.Arg467Arg 11 602377 -22 5' 89.8591 9.60237 0.98169 22.8916 89.8591 9.60237 0.98169 22.1568 0 Cryptic Donor Strongly Activated 130996363 55.9081 3.16681 0.063286 68.0404 rs527820256 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000041 0.000000 0.000000 0.000000 0.000497 0.000042 0.000000 0.000000 0.000000 0.000497 7 0 0 0 6 1 0 0 0 171194 9232 26546 8238 12082 23684 71352 15876 4184 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 43 Exomes COSM5796164 Breast 0.000408 2453 transition C T C>T 0.063 -1.732 R Arg CGC 0.190 R Arg CGT 0.082 467 255 PASS . . . . . . 0.0002 . . . 0.001 . . UNKNOWN . . 0.5762712 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.4488 . . . . . . . . 4.071e-05 . . . 0 0.0002 0 0.0024 0 0 0 0.0002 0 0.0002 0 0.0018 0 0 0 0.0002 synonymous_SNV synonymous_SNV unknown . . . exonic exonic exonic . . . 0.0002 . . . . . . ENSG00000106976 DNM1 DNM1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs527820256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.089e-05 0 0 0.0005 0 0 0 4.222e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749058250 9 131029890 C G - GOLGA2 4425 Golgin A2 NM_004486.4 -1 4260 3009 NP_004477.3 Q08379 substitution intron GRCh37 131029890 131029890 Chr9(GRCh37):g.131029890C>G 421-94 421-94 NM_004486.4:c.421-94G>C p.? p.? 6 5 602580 -94 3' 78.357 9.17024 0.96842 7.28355 78.357 9.17024 0.96842 7.28355 0 rs749058250 no no 0 C 0.000000 0 transversion G C G>C 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.4950495 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . INTRON(MODIFIER||||GOLGA2|mRNA|CODING|NM_004486|) . . . . . . . 0.1838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167110 GOLGA2 GOLGA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749058250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 131775223 C T - SH3GLB2 10834 SH3-domain GRB2-like endophilin B2 NM_001287045.1 -1 2306 1215 NP_001273974.1 substitution intron GRCh37 131775223 131775223 Chr9(GRCh37):g.131775223C>T 573+64 573+64 NM_001287045.1:c.573+64G>A p.? p.? 6 6 609288 64 5' 79.968 7.76791 0.906369 1.88237 79.968 7.76791 0.906369 2.00597 0 New Acceptor Site 131775221 6.40258 0.025765 68.3774 rs984837345 yes no Frequency 1 C 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000617 0.000000 0.000067 0.000000 0.000000 0.000617 2 0 0 0 1 0 1 0 0 30968 8728 838 302 1622 0 15004 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.4512195 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 82.0 . . . . . . . . . . -0.0062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148341 SH3GLB2 SH3GLB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.458e-05 0 0 0.0006 0 6.665e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 131776267 T G - SH3GLB2 10834 SH3-domain GRB2-like endophilin B2 NM_001287045.1 -1 2306 1215 NP_001273974.1 substitution intron GRCh37 131776267 131776267 Chr9(GRCh37):g.131776267T>G 561+423 561+423 NM_001287045.1:c.561+423A>C p.? p.? 5 5 609288 423 5' 80.6985 10.154 0.970471 14.8142 80.6985 10.154 0.970471 14.8142 0 transversion A C A>C 0.000 -0.682 201 PASS . . . . . . . . . . . . . . . . 0.16129032 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . 0.2419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148341 SH3GLB2 SH3GLB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 9 131776268 T G - SH3GLB2 10834 SH3-domain GRB2-like endophilin B2 NM_001287045.1 -1 2306 1215 NP_001273974.1 substitution intron GRCh37 131776268 131776268 Chr9(GRCh37):g.131776268T>G 561+422 561+422 NM_001287045.1:c.561+422A>C p.? p.? 5 5 609288 422 5' 80.6985 10.154 0.970471 14.8142 80.6985 10.154 0.970471 14.8142 0 transversion A C A>C 0.000 -0.279 191 PASS . . . . . . . . . . . . . . . . 0.13793103 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . 0.3271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148341 SH3GLB2 SH3GLB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 9 131776269 T G - SH3GLB2 10834 SH3-domain GRB2-like endophilin B2 NM_001287045.1 -1 2306 1215 NP_001273974.1 substitution intron GRCh37 131776269 131776269 Chr9(GRCh37):g.131776269T>G 561+421 561+421 NM_001287045.1:c.561+421A>C p.? p.? 5 5 609288 421 5' 80.6985 10.154 0.970471 14.8142 80.6985 10.154 0.970471 14.8142 0 transversion A C A>C 0.000 0.286 189 PASS . . . . . . . . . . . . . . . . 0.13402061 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . 0.5289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148341 SH3GLB2 SH3GLB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs757954196 9 131825934 G C - MIGA2 23621 Mitoguardin 2 NM_001329990.1 1 3725 1782 NP_001316919.1 Q7L4E1 substitution intron GRCh37 131825934 131825934 Chr9(GRCh37):g.131825934G>C 1170+24 1170+24 NM_001329990.1:c.1170+24G>C p.? p.? 11 11 616774 24 5' 71.5878 6.28293 0.822572 6.31218 71.5878 6.28293 0.822572 6.25645 0 transversion G C G>C 0.000 -0.440 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||FAM73B|mRNA|CODING|NM_032809|) . . . . . . . -0.3929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148343 FAM73B FAM73B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 9 132632117 T G - MIR6855 50061 MicroRNA 6855 NR_106914.1 1 67 0 substitution downstream GRCh37 132632117 132632117 Chr9(GRCh37):g.132632117T>G *167 *167 NR_106914.1:n.*167T>G p.? p.? 1 transversion T G T>G 1.000 4.322 221 PASS . . . . . . . . . . . . . . . . 0.21621622 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.642 . @ . . . . . 1 0.588 . . 74.0 . . . . . . . . . . 0.3134 0.393 0.313 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.192 . . exonic exonic exonic . . 0.620 @ . . . . . . ENSG00000136878 USP20 USP20 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.469 0.024 . . 37 . 0.248 . . 0.048 . . . 0.426 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.519 . . 0 0 0 0 0 0 . 0.362 . . 0.435 . . . . . . 1 0.654 . . . . . 0.641 . 0.816 . HET 0 . . . . . . . . . . . . . 14.0445 . . IV.84 IV.84 . 0.010000 Q9Y2K6 . . . . . 0.606 . . IV.84 . . . . . . . . . . . . . . . . . . . 0.495 . 2.165 2.165000 . . 0.010000 . . 1.0E-221 1.000 0.715 . 0.308 0.898 . 0.821 . 0.807 2.165 0.970 . . . . . 1 1538 10 1.I 0,0,0 +. 9 132632117 T G - USP20 12619 Ubiquitin specific peptidase 20 NM_001008563.4 1 4442 2745 NP_001008563.2 Q9Y2K6 substitution missense exon GRCh37 132632117 132632117 Chr9(GRCh37):g.132632117T>G 1559 1559 NM_001008563.4:c.1559T>G p.Ile520Ser p.Ile520Ser 14 615143 -7 5' 69.8529 8.66587 0.53331 4.66408 69.8529 8.66587 0.417459 4.71549 -0.07241 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 transversion T G T>G 1.000 4.322 I Ile ATC 0.481 S Ser AGC 0.243 520 13 9 Zebrafish -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 353.86 0.00 Deleterious 0.05 III.51 221 PASS . . . . . . . . . . . . . . . . 0.21621622 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.642 . @ . . . . . 1 0.588 . . 74.0 . . . . . . . . . . 0.3134 0.393 0.313 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.192 . . exonic exonic exonic . . 0.620 @ . . . . . . ENSG00000136878 USP20 USP20 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.469 0.024 . . 37 . 0.248 . . 0.048 . . . 0.426 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.519 . . 0 0 0 0 0 0 . 0.362 . . 0.435 . . . . . . 1 0.654 . . . . . 0.641 . 0.816 . HET 0 . . . . . . . . . . . . . 14.0445 . . IV.84 IV.84 . 0.010000 Q9Y2K6 . . . . . 0.606 . . IV.84 . . . . . . . . . . . . . . . . . . . 0.495 . 2.165 2.165000 . . 0.010000 . . 1.0E-221 1.000 0.715 . 0.308 0.898 . 0.821 . 0.807 2.165 0.970 . . . . . 1 1538 10 1.I 0,0,0 +rs201778541 (chr9:133069672 A/G) 9 133069672 A G Not on a known gene +rs199553506 (chr9:133069705 C/T) 9 133069705 C T Not on a known gene +rs187454751 (chr9:133069775 C/T) 9 133069775 C T Not on a known gene +rs72768590 9 134072817 C G - NUP214 8064 Nucleoporin 214kDa NM_005085.3 1 7600 6273 NP_005076.3 P35658 substitution synonymous exon GRCh37 134072817 134072817 Chr9(GRCh37):g.134072817C>G 3936 3936 NM_005085.3:c.3936C>G p.Thr1312= p.Thr1312Thr 29 114350 215 3' 90.3038 8.53101 0.988197 XI.19 90.3038 8.53101 0.988197 XI.19 0 rs72768590 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.002342 0.001082 0.000901 0.000099 0.000000 0.001527 0.004131 0.000271 0.002167 0.004131 649 26 31 1 0 47 523 7 14 277104 24024 34420 10144 18864 30782 126616 25792 6462 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 647 26 31 1 0 47 521 7 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4399 12964 35 7 42 0.00406977 0.00158874 0.00322928 0.00406977 0.00158874 0.00322928 144 transversion C G C>G 0.000 -2.861 T Thr ACC 0.361 T Thr ACG 0.116 1312 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.001 0.001 . . NUP214:NM_005085:exon29:c.C3936G:p.T1312T . . 0.5487805 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 164.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acG|T1312|NUP214|mRNA|CODING|NM_005085|NM_005085.ex.29) 0.0016 0.0032 0.0041 0.0016 0.0032 0.0041 . -0.0649 . . . . . . . . 2.470e-03 . . . 0.0013 0.0020 0.0008 0 0.0003 0.0032 0 0.0016 0.0012 0.0024 0.0008 0 0.0002 0.0039 0 0.0016 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.42 0.28 182 ENSG00000126883 NUP214 NUP214 . . . . . . 211 0.00324735 64976 209 0.00348415 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72768590 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.003229 . . . . . 0.0011 0.0023 0.0009 0.0001 0 0.0002 0.0042 0.0022 0.0015 0.0010 0.0023 0.0012 0 0 0.0009 0.0038 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0041 . rs72768590 rs72768590 rs72768590 1 1538 10 1/0 0,243,255 +rs745663838 9 134346233 A C - PRRC2B 28121 Proline-rich coiled-coil 2B NM_013318.3 1 11062 6690 NP_037450.2 Q5JSZ5 substitution missense exon GRCh37 134346233 134346233 Chr9(GRCh37):g.134346233A>C 1970 1970 NM_013318.3:c.1970A>C p.Gln657Pro p.Gln657Pro 13 59 3' 83.4471 IX.87 0.829927 8.21317 83.4471 IX.87 0.829927 8.40598 0 transversion A C A>C 1.000 2.950 Q Gln CAG 0.744 P Pro CCG 0.115 657 11 7 Dog -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C15 57.03 65.86 Deleterious 0.03 III.73 bad 2.858E-4 0.005919 203 PASS . . . . . . . . . . . . . PRRC2B:NM_013318:exon13:c.A1970C:p.Q657P . . 0.17073171 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.286 . @ . . . . . 1 0.614 . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cCg|Q657P|PRRC2B|mRNA|CODING|NM_013318|NM_013318.ex.13) . . . . . . . -0.0524 0.151 -0.052 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.129 . . exonic exonic exonic . . 0.952 @ . . . . . . ENSG00000130723 PRRC2B PRRC2B . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.263 . . . . T 0.305 0.012 . . 37 . 0.125 . . 0.119 . . . 0.456 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.131 . . 0.104 . . . . . . 0 0.308 . . . . . 0.496 . 0.603 . HET 0.06 . . . . . . . . . . . . . 11.514 . . V.91 V.91 . 0.300000 Q5JSZ5 . . . . . 0.582 . . V.91 . . . . . . . . . . . . . . . . . . . 0.522 . 2.269 2.269000 . . 0.300000 . . 1.0E-203 1.000 0.715 . 0.303 0.997 . 0.605 . 0.960 2.269 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs200177146 9 135522185 A G - DDX31 16715 DEAD-box helicase 31 NM_022779.8 -1 4577 2556 NP_073616.6 Q9H8H2 substitution intron GRCh37 135522185 135522185 Chr9(GRCh37):g.135522185A>G 1518+25 1518+25 NM_022779.8:c.1518+25T>C p.? p.? 12 12 616533 25 5' 79.9214 6.03361 0.75359 2.86365 79.9214 6.03361 0.75359 3.14774 0 rs200177146 yes no Frequency 1 A 0.000000 0 0.000471 0.000000 0.000000 0.002272 0.000000 0.000000 0.000733 0.000505 0.000310 0.002272 130 0 0 23 0 0 92 13 2 275876 24020 34394 10122 18868 30764 125490 25762 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 128 0 0 23 0 0 90 13 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4406 12999 7 0 7 0.000813953 0 0.000538213 0.000813953 0 0.000538213 68 transition T C T>C 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.4189189 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.3190 . . . . . . . . 4.186e-04 . . . 0 0.0004 0 0 0 0.0009 0 0 0 0.0004 0 0 0.0006 0.0007 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.26 0.22 182 ENSG00000125485 DDX31 DDX31 . . . . . . 40 0.000615612 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200177146 . . . . . . . . . . . . . . . . . . . . . . . 0.000538 . . . . . 0 0.0004 0 0.0023 0 0.0005 0.0006 0.0002 0 0 0.0009 0 0 0 0.0006 0.0016 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs200177146 rs200177146 1 1538 10 1/0 0,255,255 +rs186926106 9 135523711 T C - DDX31 16715 DEAD-box helicase 31 NM_022779.8 -1 4577 2556 NP_073616.6 Q9H8H2 substitution intron GRCh37 135523711 135523711 Chr9(GRCh37):g.135523711T>C 1176-29 1176-29 NM_022779.8:c.1176-29A>G p.? p.? 11 10 616533 -29 3' 83.8909 7.38495 0.512526 V.99 83.8909 7.38495 0.512526 5.31395 0 135523711 -70.6016 rs186926106 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.001758 0.000546 0.001439 0.001738 0.000000 0.000000 0.002693 0.001757 0.002568 0.002693 472 13 47 17 0 0 334 45 16 268486 23822 32670 9782 18026 28318 124022 25616 6230 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 470 13 47 17 0 0 332 45 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4404 12974 30 2 32 0.00348837 0.000453926 0.0024604 0.00348837 0.000453926 0.0024604 47 transition A G A>G 0.000 -3.023 255 PASS . 0.0009 . . 0.0026 . 0.0006 0.0014 . 0.002 . . . . . . 0.45238096 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0005 0.0025 0.0035 0.0005 0.0025 0.0035 . -0.1148 . . . . . . . . 1.760e-03 . . . 0.0004 0.0015 0.0012 0 0.0013 0.0026 0.0028 0 0.0003 0.0017 0.0013 0 0.0021 0.0027 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.3 0.31 182 ENSG00000125485 DDX31 DDX31 . . . . . . 154 0.00237011 64976 151 0.00251725 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186926106 . . . . . . . . . . . . . . . . . . . . . . . 0.002460 . . . . . 0.0005 0.0017 0.0014 0.0018 0 0.0019 0.0026 0.0029 0 0.0007 0.0019 0.0036 0 0 0.0011 0.0031 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0035 . . rs186926106 rs186926106 1 1538 10 1/0 0,255,255 +rs62576761 9 135895156 A T - SNORD141A 51406 Small nucleolar RNA, C/D box 141A NR_132980.1 -1 105 0 substitution downstream GRCh37 135895156 135895156 Chr9(GRCh37):g.135895156A>T *661 *661 NR_132980.1:n.*661T>A p.? p.? 1 rs62576761 no no 0 A 0.000000 0 0.008148 0.003904 0.027439 0.027778 0.000000 0.000000 0.010708 0.005305 0.009302 0.027778 223 30 18 7 0 0 144 16 8 27370 7684 656 252 1454 0 13448 3016 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 30 18 7 0 0 144 16 8 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion T A T>A 1.000 2.062 213 PASS . . . . . . . . . . . . . . . . 0.19642857 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 56.0 . . . . . . . . . . 1.1666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.55 0.4 182 ENSG00000196205 . . . dist\x3d28072\x3bdist\x3d10906 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62576761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0039 0.0081 0.0274 0.0278 0 0.0053 0.0107 0.0093 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs62576761 rs62576761 rs62576761 rs148740450 1 1538 10 1/0 0,255,255 +rs62576762 9 135895217 T G - SNORD141A 51406 Small nucleolar RNA, C/D box 141A NR_132980.1 -1 105 0 substitution downstream GRCh37 135895217 135895217 Chr9(GRCh37):g.135895217T>G *600 *600 NR_132980.1:n.*600A>C p.? p.? 1 rs62576762 no no 0 T 0.000000 0 0.007825 0.006965 0.024038 0.009709 0.005822 0.000000 0.007667 0.008820 0.005000 0.024038 204 52 15 2 8 0 97 26 4 26070 7466 624 206 1374 0 12652 2948 800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 204 52 15 2 8 0 97 26 4 0 0 0 0 0 0 0 0 0 RF 46 Genomes transversion A C A>C 0.992 0.125 217 PASS . . . . . . . . . . . . . . . . 0.20754717 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . 0.9212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.61 0.4 182 ENSG00000196205 . . . dist\x3d28133\x3bdist\x3d10845 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62576762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0070 0.0078 0.0240 0.0097 0.0058 0.0088 0.0077 0.005 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs62576762 rs62576762 rs62576762 rs375354028 1 1538 10 1/0 0,255,255 +rs62576763 9 135895245 G A - SNORD141A 51406 Small nucleolar RNA, C/D box 141A NR_132980.1 -1 105 0 substitution downstream GRCh37 135895245 135895245 Chr9(GRCh37):g.135895245G>A *572 *572 NR_132980.1:n.*572C>T p.? p.? 1 rs62576763 no no 0 G 0.000000 0 0.001526 0.001815 0.012270 0.000000 0.002075 0.000000 0.000698 0.001926 0.001202 0.012270 41 14 8 0 3 0 9 6 1 26868 7712 652 210 1446 0 12900 3116 832 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 14 8 0 3 0 9 6 1 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 1.000 4.402 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 56.0 . . . . . . . . . . I.92 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.65 0.48 182 ENSG00000196205 . . . dist\x3d28161\x3bdist\x3d10817 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62576763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.53 . . . . . . . . . 0.0018 0.0015 0.0123 0 0.0021 0.0019 0.0007 0.0012 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs62576763 rs62576763 rs62576763 rs62576763 1 1538 10 1/0 0,255,255 +rs35767802 9 136419629 G A - ADAMTSL2 14631 ADAMTS-like 2 NM_014694.3 1 3726 2856 NP_055509.2 Q86TH1 substitution missense exon GRCh37 136419629 136419629 Chr9(GRCh37):g.136419629G>A 1090 1090 NM_014694.3:c.1090G>A p.Val364Ile p.Val364Ile 10 612277 151 3' 86.3878 XI.67 0.995124 13.642 86.3878 XI.67 0.995124 13.642 0 rs35767802 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.440 V Val GTC 0.240 I Ile ATC 0.481 364 11 4 Opossum 3 3 4 0 0 5.IX 5.II 84 111 29 C0 235.27 0.00 Tolerated 0.62 IV.32 good 9.835E-1 0.004019 255 PASS . . . . . . . . . . . . . . . . 0.41428572 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.123 . . 70.0 . . . . . . . . . . -1.2570 -1.308 -1.257 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.618 . . exonic exonic exonic . . 0.030 @ . . . 0.45 0.41 182 ENSG00000197859 ADAMTSL2 ADAMTSL2 . . . 0.999 0.386 . . . . . . . Uncertain_significance . 0 . 0.156 . . . . T 0.429 0.020 . . 37 . 0.356 . . 0.154 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 1 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.127 . . . . . 0.554 . 0.072 . HET 0.52 rs35767802 0.152 0.145 . . . . . . . . . . XII.44 . . IV.72 -4.69 . 0.200000 Q86TH1 . . . . . 0.139 . . . . . . . . . . . . . . . . . . . . . . 0.000 . -0.684 -0.684000 . . 0.200000 . . 1.0E-255 0.003 0.159 . 0.135 0.483 . 0.176 . 0.087 -0.684 -1.874 0.15 rs35767802 rs35767802 rs35767802 rs201141885 1 1538 10 1/0 0,255,255 +rs1064975 9 136434598 A G - ADAMTSL2 14631 ADAMTS-like 2 NM_014694.3 1 3726 2856 NP_055509.2 Q86TH1 substitution synonymous exon GRCh37 136434598 136434598 Chr9(GRCh37):g.136434598A>G 2313 2313 NM_014694.3:c.2313A>G p.Val771= p.Val771Val 16 612277 69 3' 80.8719 X.04 0.884761 15.2392 80.8719 X.04 0.884761 15.5329 0 Cryptic Donor Strongly Activated 136434598 0.000321 52.8169 3.07142 0.0148 64.953 Thrombospondin, type 1 repeat rs1064975 yes no Frequency 1 A 0.000000 0 COSM4371879 Lung 0.000419 2389 transition A G A>G 0.984 -0.198 V Val GTA 0.114 V Val GTG 0.468 771 255 PASS . . . . . . . . . . . . . . . . 0.44055945 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 143.0 . . . . . . . . . . 0.9281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.31 182 ENSG00000197859 ADAMTSL2 ADAMTSL2 . . . . . . 38225 0.588294 64976 35982 0.59984 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1064975 0.707 0.710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.71 rs1064975 rs1064975 rs1064975 rs1064975 1 1538 10 1/0 0,241,255 +. 9 136648611 A G - VAV2 12658 Vav 2 guanine nucleotide exchange factor NM_001134398.1 -1 4851 2637 NP_001127870.1 P52735 substitution intron GRCh37 136648611 136648611 Chr9(GRCh37):g.136648611A>G 1723+14 1723+14 NM_001134398.1:c.1723+14T>C p.? p.? 19 19 600428 14 5' 70.4593 7.67679 0.864075 10.0549 70.4593 7.67679 0.864075 X.34 0 0.000035 0.000000 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 0.000071 1 0 0 0 0 0 1 0 0 28888 7764 822 292 1604 0 14056 3414 936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition T C T>C 0.000 -0.360 184 PASS . . . . . . . . . . . . . . . . 0.12162162 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 74.0 . . . . . . . . . . 0.2968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000160293 VAV2 VAV2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.462e-05 0 0 0 0 7.114e-05 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs116715381 9 137593098 C T - COL5A1 2209 Collagen type V alpha 1 chain NM_000093.4 1 8440 5517 NP_000084.3 P20908 substitution synonymous exon GRCh37 137593098 137593098 Chr9(GRCh37):g.137593098C>T 573 573 NM_000093.4:c.573C>T p.Leu191= p.Leu191Leu 4 120215 -82 5' 86.8044 8.70331 0.993239 XI.39 86.8044 8.70331 0.993239 XI.39 0 Cryptic Acceptor Weakly Activated 137593107 5.85999 0.208203 78.4643 5.83511 0.344353 81.1761 Laminin G domain Concanavalin A-like lectin/glucanases superfamily rs116715381 yes no Frequency/1000G 2 C benign,likely_benign 0.000000 0 0.002596 0.005300 0.000000 0.003000 0.001000 0.002900 0.001941 0.007966 0.002180 0.002667 0.004031 0.000618 0.000990 0.000039 0.003565 0.007966 537 191 75 27 76 19 125 1 23 276596 23978 34402 10124 18852 30766 126270 25752 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 537 191 75 27 76 19 125 1 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4371 12962 9 35 44 0.00104651 0.00794371 0.00338305 0.00104651 0.00794371 0.00338305 136 RCV000124478.5|RCV000463013.1|RCV000246811.1|RCV000278708.1 germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Benign|Likely benign|Likely benign 2|1|1|1 not specified|Ehlers-Danlos syndrome, classic type|Thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome, type 7A COSM5008466 Large intestine 0.000416 2401 transition C T C>T 0.969 -0.037 L Leu CTC 0.197 L Leu CTT 0.129 191 255 PASS 0.01 0.0037 0.0028 0.0035 . 0.0053 0.0026 0.0029 0.003 0.001 . ENSG00000130635:ENST00000371817:exon4:c.C573T:p.L191L . . . . 0.4814815 . . germline 26 . . 1.2.2016 0 0 0 0 1 0 1 1 1 1 0 0 . . . . . . . . Benign//\%//\@Likely//\@benign//\%//\@Likely//\@benign Benign|Likely_benign|Likely_benign RCV000124478.5|RCV000246811.1|RCV000278708.1 . MedGen|MedGen:Orphanet|MedGen CN169374|CN118826:ORPHA91387|CN071434 2 . . . 54.0 . . . 0.0079 0.0034 0.001 0.0079 0.0034 0.001 . 0.0866 . . . . . . . . 1.903e-03 . . . 0.0086 0.0023 0.0021 0.0046 0 0.0014 0.0043 0.0005 0.0082 0.0020 0.0021 0.0052 0.0002 0.0011 0.0044 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.36 0.35 182 ENSG00000130635 COL5A1 COL5A1 . . . . . . 84 0.00129279 64976 71 0.00118361 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116715381 0.011 0.007 . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000124478.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000124478.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . 0.003383 . . . . . 0.0089 0.0019 0.0022 0.0026 0.0043 4.493e-05 0.0010 0.0040 0.0006 0.0064 0.0024 0.0012 0.0033 0.0012 0 0.0008 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs116715381 rs116715381 1 1538 10 1/0 0,255,255 +rs3827852 9 137688800 A G - COL5A1 2209 Collagen type V alpha 1 chain NM_000093.4 1 8440 5517 NP_000084.3 P20908 substitution intron GRCh37 137688800 137688800 Chr9(GRCh37):g.137688800A>G 2898+53 2898+53 NM_000093.4:c.2898+53A>G p.? p.? 36 36 120215 53 5' 78.4708 7.52484 0.919264 8.06761 78.4708 7.52484 0.919264 7.74344 0 rs3827852 yes no Frequency/1000G 2 0.000000 0 0.699281 0.866100 0.602200 0.827400 0.550700 0.547600 transition A G A>G 0.000 0.044 111 PASS . . . . . 0.87 0.7 0.55 0.83 0.55 0.6 . . . . . 0.29761904 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . -0.1513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3007 . . . 0.1 0.28 182 ENSG00000130635 COL5A1 COL5A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3827852 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs3827852 rs3827852 rs3827852 rs3827852 1 1538 10 1.I 108,1,0 +. 9 137742538 GA G - MIR3689A 38904 MicroRNA 3689a NR_037460.1 -1 78 0 deletion downstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del *115 *115 NR_037460.1:n.*115del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689B 38924 MicroRNA 3689b NR_037469.1 -1 148 0 deletion upstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del -421 -421 NR_037469.1:n.-421del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689C 41816 MicroRNA 3689c NR_039691.1 -1 71 0 deletion downstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del *142 *142 NR_039691.1:n.*142del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689D1 41621 MicroRNA 3689d-1 NR_039693.1 -1 74 0 deletion upstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del -339 -339 NR_039693.1:n.-339del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689D2 41846 MicroRNA 3689d-2 NR_039694.1 -1 80 0 deletion upstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del -337 -337 NR_039694.1:n.-337del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689E 41887 MicroRNA 3689e NR_039695.1 -1 71 0 deletion downstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del *142 *142 NR_039695.1:n.*142del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +. 9 137742538 GA G - MIR3689F 41702 MicroRNA 3689f NR_039696.1 -1 66 0 deletion downstream GRCh37 137742539 137742539 Chr9(GRCh37):g.137742539del *49 *49 NR_039696.1:n.*49del p.? p.? 1 rs141191533 no no 0 0.000000 0 0.000684 0.001098 0.001650 0.000000 0.000000 0.000000 0.000369 0.000825 0.001736 0.001650 12 5 1 0 0 0 3 2 1 17532 4554 606 184 1068 0 8120 2424 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 1 0 0 0 3 2 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.24277456 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs141191533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0007 0.0017 0 0 0.0008 0.0004 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs141191533 rs141191533 1 1538 10 1.I 0,9,61 +rs148368571 9 137742541 A G - MIR3689A 38904 MicroRNA 3689a NR_037460.1 -1 78 0 substitution downstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G *113 *113 NR_037460.1:n.*113T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689B 38924 MicroRNA 3689b NR_037469.1 -1 148 0 substitution upstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G -423 -423 NR_037469.1:n.-423T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689C 41816 MicroRNA 3689c NR_039691.1 -1 71 0 substitution downstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G *140 *140 NR_039691.1:n.*140T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689D1 41621 MicroRNA 3689d-1 NR_039693.1 -1 74 0 substitution upstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G -341 -341 NR_039693.1:n.-341T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689D2 41846 MicroRNA 3689d-2 NR_039694.1 -1 80 0 substitution upstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G -339 -339 NR_039694.1:n.-339T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689E 41887 MicroRNA 3689e NR_039695.1 -1 71 0 substitution downstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G *140 *140 NR_039695.1:n.*140T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs148368571 9 137742541 A G - MIR3689F 41702 MicroRNA 3689f NR_039696.1 -1 66 0 substitution downstream GRCh37 137742541 137742541 Chr9(GRCh37):g.137742541A>G *47 *47 NR_039696.1:n.*47T>C p.? p.? 1 rs148368571 yes no Frequency/1000G 2 0.000000 0 0.418930 0.485600 0.385500 0.388900 0.418500 0.383300 transition T C T>C 0.000 -1.812 208 PASS . . . . . 0.49 0.42 0.38 0.39 0.42 0.39 . . . . . 0.1764706 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.3413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4189 . . . 0.35 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs148368571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs148368571 rs148368571 1 1538 10 1/0 0,212,255 +rs118149996 9 137742545 C T - MIR3689A 38904 MicroRNA 3689a NR_037460.1 -1 78 0 substitution downstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T *109 *109 NR_037460.1:n.*109G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689B 38924 MicroRNA 3689b NR_037469.1 -1 148 0 substitution upstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T -427 -427 NR_037469.1:n.-427G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689C 41816 MicroRNA 3689c NR_039691.1 -1 71 0 substitution downstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T *136 *136 NR_039691.1:n.*136G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689D1 41621 MicroRNA 3689d-1 NR_039693.1 -1 74 0 substitution upstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T -345 -345 NR_039693.1:n.-345G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689D2 41846 MicroRNA 3689d-2 NR_039694.1 -1 80 0 substitution upstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T -343 -343 NR_039694.1:n.-343G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689E 41887 MicroRNA 3689e NR_039695.1 -1 71 0 substitution downstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T *136 *136 NR_039695.1:n.*136G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs118149996 9 137742545 C T - MIR3689F 41702 MicroRNA 3689f NR_039696.1 -1 66 0 substitution downstream GRCh37 137742545 137742545 Chr9(GRCh37):g.137742545C>T *43 *43 NR_039696.1:n.*43G>A p.? p.? 1 rs118149996 yes no Frequency/1000G 2 0.000000 0 0.528355 0.630900 0.478500 0.444400 0.566600 0.469700 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000428 0.000000 0.000428 1 0 0 0 0 0 0 1 0 22042 4782 688 322 1128 104 12018 2336 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.602 209 PASS . . . . . 0.63 0.53 0.47 0.44 0.57 0.48 . . . . . 0.17777778 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.2542 . . . . . . . . 2.658e-04 . . . 0 0.0029 0 0 . 0.0047 0 0 . . . . . . . . . . . . . . upstream\x3bdownstream ncRNA_intronic ncRNA_intronic . . . 0.4716 . . . 0.28 0.36 182 . LOC101448202 LOC101448202 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs118149996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 5.823e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs118149996 rs118149996 1 1538 10 1/0 0,210,255 +rs117542222 9 138393914 G C - MRPS2 14495 Mitochondrial ribosomal protein S2 NM_016034.4 1 1511 891 NP_057118.1 Q9Y399 substitution intron GRCh37 138393914 138393914 Chr9(GRCh37):g.138393914G>C 299+95 299+95 NM_016034.4:c.299+95G>C p.? p.? 3 3 611971 95 5' 89.9194 X.02 0.956905 X.52 89.9194 X.02 0.956905 X.52 0 Cryptic Acceptor Strongly Activated 138393921 4.46339 0.345411 9.98874 0.659722 82.4791 rs117542222 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001131 0.000344 0.001193 0.000000 0.000000 0.000000 0.001734 0.000859 0.002037 0.001734 35 3 1 0 0 0 26 3 2 30956 8724 838 302 1622 0 14994 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 3 1 0 0 0 26 3 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G C G>C 0.000 0.286 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.53061223 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 49.0 . . . . . . . . . . 0.8010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic splicing intronic . . . 0.0006 . . . 0.47 0.2 182 ENSG00000122140 MRPS2 MRPS2 . . . . . . 44 0.000677173 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 6 . . . . . . . . . . HET . rs117542222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0.0012 0 0 0.0009 0.0017 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs117542222 rs117542222 1 1538 10 1/0 0,255,255 +rs117497154 9 138591319 C G - SOHLH1 27845 Spermatogenesis and oogenesis specific basic helix-loop-helix 1 NM_001101677.1 -1 1415 1164 NP_001095147.1 substitution 5'UTR GRCh37 138591319 138591319 Chr9(GRCh37):g.138591319C>G -6 -6 NM_001101677.1:c.-6G>C p.? p.? 1 610224 -71 5' 78.4828 5.85038 0.133946 7.52366 78.4828 5.85038 0.133946 VII.33 0 rs117497154 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.001288 0.000171 0.000468 0.000000 0.000000 0.001447 0.001708 0.002627 0.001586 0.002627 348 4 16 0 0 44 209 65 10 270144 23440 34162 10022 18710 30398 122368 24740 6304 0.000015 0.000000 0.000000 0.000000 0.000000 0.000132 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 344 4 16 0 0 40 209 65 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4392 12971 9 0 9 0.00104797 0 0.000693374 0.00104797 0 0.000693374 36 transversion G C G>C 0.000 -0.844 255 PASS . 0.0023 0.0028 . 0.01 . 0.0012 0.0014 . 0.005 . . . . . . 0.52272725 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . . . 0.0007 0.001 . 0.0007 0.001 . 0.4308 . . . . . . . . 1.440e-03 . . . 0 0.0012 0.0002 0 0.0028 0.0017 0.0017 0.0018 0 0.0017 0.0001 0 0.0035 0.0023 0.0017 0.0018 . . . . . . UTR5 UTR5 UTR5 . . . 0.0012 . . . 0.5 0.55 182 ENSG00000165643 SOHLH1 SOHLH1 . . . . . . 43 0.000661783 64976 38 0.000633481 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117497154 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000693 . . . . . 0.0001 0.0013 0.0005 0 0 0.0025 0.0017 0.0017 0.0014 0.0002 0.0014 0 0 0 0.0032 0.0019 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs117497154 rs117497154 1 1538 10 1/0 0,255,255 +rs200447810 9 138591332 C A - SOHLH1 27845 Spermatogenesis and oogenesis specific basic helix-loop-helix 1 NM_001101677.1 -1 1415 1164 NP_001095147.1 substitution 5'UTR GRCh37 138591332 138591332 Chr9(GRCh37):g.138591332C>A -19 -19 NM_001101677.1:c.-19G>T p.? p.? 1 610224 -84 5' 78.4828 5.85038 0.133946 7.52366 78.4828 5.85038 0.133946 7.52366 0 Cryptic Acceptor Strongly Activated 138591323 7.60388 0.014531 71.347 9.68728 0.172808 76.7823 rs200447810 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.001295 0.000176 0.000474 0.000000 0.000000 0.001485 0.001722 0.002598 0.001622 0.002598 341 4 16 0 0 44 205 62 10 263416 22724 33736 9878 18380 29632 119038 23862 6166 0.000015 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 337 4 16 0 0 40 205 62 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8578 4386 12964 10 0 10 0.00116442 0 0.000770772 0.00116442 0 0.000770772 30 transversion G T G>T 0.000 -1.167 255 PASS . 0.0023 0.0028 . 0.01 . 0.0012 0.0014 . 0.005 . . . . . . 0.47368422 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . . . 0.0008 0.0012 . 0.0008 0.0012 . 0.2821 . . . . . . . . 1.405e-03 . . . 0 0.0013 0.0002 0 0.0029 0.0017 0.0019 0.0019 0 0.0017 0.0001 0 0.0035 0.0023 0.0019 0.0019 . . . . . . UTR5 UTR5 UTR5 . . . 0.0012 . . . 0.59 0.58 182 ENSG00000165643 SOHLH1 SOHLH1 . . . . . . 41 0.000631002 64976 36 0.00060014 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200447810 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000771 . . . . . 0.0001 0.0013 0.0005 0 0 0.0025 0.0017 0.0017 0.0015 0.0002 0.0014 0 0 0 0.0032 0.0019 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs200447810 rs200447810 1 1538 10 1/0 0,255,255 +. 9 138941807 C T - NACC2 23846 NACC family member 2, BEN and BTB (POZ) domain containing NM_144653.4 -1 6899 1764 NP_653254.1 Q96BF6 substitution synonymous exon GRCh37 138941807 138941807 Chr9(GRCh37):g.138941807C>T 561 561 NM_144653.4:c.561G>A p.Leu187= p.Leu187Leu 2 615786 -326 5' 82.2852 10.521 0.890621 XI.87 82.2852 10.521 0.890621 XI.87 0 transition G A G>A 0.976 0.044 L Leu CTG 0.404 L Leu CTA 0.070 187 255 PASS . . . . . . . . . . . . NACC2:uc004cgv.4:exon2:c.G561A:p.L187L NACC2:NM_144653:exon2:c.G561A:p.L187L . . 0.39473686 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L187|NACC2|mRNA|CODING|NM_144653|NM_144653.ex.2) . . . . . . . 1.1177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000148411 NACC2 NACC2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs76978793 9 139235370 C T - GPSM1 17858 G-protein signaling modulator 1 NM_001145638.2 1 3633 2028 NP_001139110.2 Q86YR5 substitution missense exon GRCh37 139235370 139235370 Chr9(GRCh37):g.139235370C>T 1127 1127 NM_001145638.2:c.1127C>T p.Ala376Val p.Ala376Val 9 609491 44 3' 74.8577 7.05544 0.894071 11.1007 74.8577 7.05544 0.894071 X.78 0 Cryptic Acceptor Strongly Activated 139235375 1.20682 3,00E-05 62.886 2.43062 9.6e-05 66.4316 rs76978793 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.002094 0.000495 0.001415 0.002612 0.000000 0.000120 0.003733 0.000963 0.002117 0.003733 436 9 40 23 0 3 331 19 11 208214 18172 28274 8806 14426 24940 88676 19724 5196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 436 9 40 23 0 3 331 19 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8410 4261 12671 22 3 25 0.00260911 0.000703565 0.00196912 0.00260911 0.000703565 0.00196912 11 transition C T C>T 0.039 1.739 A Ala GCG 0.107 V Val GTG 0.468 376 12 6 Chicken 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.24 III.36 255 PASS . . . . . . 0.0012 0.0014 . 0.005 . . . . . . 0.3773585 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.302 . @ . . . . . 1 0.611 . . 53.0 . . . 0.0007 0.002 0.0026 0.0007 0.002 0.0026 . -0.3875 -0.387 -0.388 c . . . . . 1.942e-03 . . . 0 0.0032 0.0038 0 0 0.0072 0.0109 0.0001 0 0.0048 0.0041 0 0.0081 0.0107 0.0125 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.779 . . exonic exonic exonic . . 0.442 0.0012 . . . 0.23 0.37 182 ENSG00000160360 GPSM1 GPSM1 . . . 1.000 0.747 . 154 0.00237011 64976 149 0.00248391 59986 Uncertain_significance . 0 . 0.432 . . . . . . . . . 37 . 0.599 . . 0.568 . . . 0.510 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.550 . . 0 0 0 0 0 0 . 0.402 . . 0.244 . . . . . . 0 0.208 . . . . . 0.349 . 0.634 . HET 0.05 . . . . . . . . . . . . . VIII.69 8.37E-4 . III.91 III.91 . 0.230000 . . . . 0.001969 . 0.287 . . III.91 0.0005 0.0020 0.0014 0.0025 0 0.0010 0.0036 0.0026 0.0001 0.0005 0.0025 0.0024 0.0066 0 0.0006 0.0045 0 . . 0.450 . 2.028 2.028000 . . 0.230000 . . 1.0E-255 0.721 0.286 . 0.222 0.433 . 0.453 . 0.348 2.028 0.871 0.0026 . . rs76978793 rs76978793 1 1538 10 1/0 0,255,255 +rs76185667 9 139243143 C T - GPSM1 17858 G-protein signaling modulator 1 NM_001145638.2 1 3633 2028 NP_001139110.2 Q86YR5 substitution intron GRCh37 139243143 139243143 Chr9(GRCh37):g.139243143C>T 1208-6 1208-6 NM_001145638.2:c.1208-6C>T p.? p.? 10 9 609491 -6 3' 87.8381 9.99903 0.859153 7.57789 89.9413 X.98 0.88695 7.89668 0.0297929 Cryptic Acceptor Weakly Activated 139243149 9.99903 0.859153 87.8381 X.98 0.88695 89.9413 rs76185667 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.002174 0.000471 0.001349 0.002504 0.000000 0.000066 0.003740 0.001045 0.002684 0.003740 590 11 46 25 0 2 463 26 17 271392 23338 34110 9986 18700 30270 123784 24870 6334 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 588 11 46 25 0 2 461 26 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4378 12942 26 4 30 0.00302678 0.000912825 0.00231267 0.00302678 0.000912825 0.00231267 35 transition C T C>T 0.110 0.367 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0012 0.0014 . 0.005 . . . . . . 0.4918033 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . 0.0009 0.0023 0.003 0.0009 0.0023 0.003 . 0.7715 . . . . . . . . 2.300e-03 . . . 0.0003 0.0022 0.0018 0 0.0009 0.0040 0.0040 7.601e-05 0.0003 0.0028 0.0019 0 0.0020 0.0045 0.0083 7.638e-05 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.31 0.39 182 ENSG00000160360 GPSM1 GPSM1 . . . . . . 145 0.00223159 64976 139 0.00231721 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0.002313 . . . . . 0.0005 0.0021 0.0013 0.0024 0 0.0011 0.0036 0.0032 6.607e-05 0.0005 0.0025 0.0024 0.0066 0 0.0006 0.0045 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.003 . . rs76185667 rs76185667 1 1538 10 1/0 0,255,255 +rs61731233 9 139286443 G A - SNAPC4 11137 Small nuclear RNA activating complex polypeptide 4 NM_003086.3 -1 4658 4410 NP_003077.2 Q5SXM2 substitution missense exon GRCh37 139286443 139286443 Chr9(GRCh37):g.139286443G>A 926 926 NM_003086.3:c.926C>T p.Ala309Val p.Ala309Val 9 602777 -50 5' 82.9658 8.05386 0.92998 9.87655 82.9658 8.05386 0.92998 9.46719 0 SANT/Myb domain Myb-like domain Homeodomain-like rs61731233 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.001992 0.000334 0.001366 0.003157 0.000106 0.000130 0.003359 0.000571 0.002334 0.003359 545 8 47 32 2 4 424 13 15 273576 23974 34410 10136 18858 30782 126212 22776 6428 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 543 8 47 32 2 4 422 13 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4404 12977 25 2 27 0.00290765 0.000453926 0.00207628 0.00290765 0.000453926 0.00207628 68 transition C T C>T 0.764 5.048 A Ala GCG 0.107 V Val GTG 0.468 309 12 10 Zebrafish 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 244.41 35.60 Tolerated 0.05 II.76 255 PASS . 0.0014 0.0028 . 0.0026 . 0.001 0.0014 . 0.004 . ENSG00000165684:ENST00000298532:exon9:c.C926T:p.A309V SNAPC4:uc004chh.3:exon9:c.C926T:p.A309V SNAPC4:NM_003086:exon9:c.C926T:p.A309V . . 0.3962264 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.750 . @ . . . . . 1 0.974 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A309V|SNAPC4|mRNA|CODING|NM_003086|NM_003086.ex.9) 0.0005 0.0021 0.0029 0.0005 0.0021 0.0029 . 0.2772 0.247 0.277 c . . . . . 2.076e-03 . . . 9.752e-05 0.0017 0.0014 0 0.0008 0.0032 0.0028 0.0001 0.0001 0.0020 0.0014 0.0001 0.0006 0.0034 0.0058 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.883 0.0010 . . . 0.24 0.32 182 ENSG00000165684 SNAPC4 SNAPC4 . . . 1.000 0.747 . 111 0.00170832 64976 106 0.00176708 59986 Uncertain_significance . 0 . 0.486 . . . . D 0.547 0.033 . . 37 . 0.385 . . 0.505 . . . 0.096 0.452 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.655 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.313 . . . . . 0.920 . 0.349 . HET 0.02 rs61731233 . . . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 18.8043 5.35E-4 ENST00000298532 V.69 V.69 . 0.000000 Q5SXM2 . . . 0.002076 . 0.556 . . V.69 0.0003 0.0020 0.0013 0.0031 0.0001 0.0006 0.0033 0.0028 0.0001 0.0003 0.0022 0.0024 0.0066 0 0.0003 0.0039 0 . . 0.522 . 2.681 2.681000 . . 0.000000 . . 1.0E-255 0.990 0.367 . 0.114 0.029 . 0.637 . 0.713 2.681 0.917 0.0029 . . rs61731233 rs61731233 1 1538 10 1/0 0,255,255 +rs117487093 9 139752023 A T - MAMDC4 24083 MAM domain containing 4 NM_206920.2 1 3660 3414 NP_996803.2 substitution missense exon GRCh37 139752023 139752023 Chr9(GRCh37):g.139752023A>T 2311 2311 NM_206920.2:c.2311A>T p.Thr771Ser p.Thr771Ser 18 617208 -16 5' 84.5009 IX.03 0.976817 XI.67 84.5009 IX.03 0.976817 XI.23 0 MAM domain rs117487093 yes no Frequency/1000G 2 A 0.000000 0 0.001198 0.000000 0.002000 0.000000 0.003000 0.001400 0.004214 0.000968 0.002501 0.000695 0.000053 0.001950 0.006319 0.005918 0.006067 0.006319 1160 23 86 7 1 60 793 151 39 275250 23764 34388 10076 18806 30768 125504 25516 6428 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000078 0.000000 5 0 0 0 0 0 4 1 0 1150 23 86 7 1 60 785 149 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8536 4398 12934 58 4 62 0.00674889 0.000908678 0.0047707 0.00674889 0.000908678 0.0047707 35 transversion A T A>T 0.992 1.739 T Thr ACT 0.243 S Ser TCT 0.185 771 10 10 Chicken 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C55 0.00 57.75 Deleterious 0 III.51 bad 5.383E-3 2.327E-5 255 PASS . 0.0009 . . 0.0026 . 0.0012 0.0014 . 0.003 0.002 . . MAMDC4:NM_206920:exon18:c.A2311T:p.T771S . . 0.42372882 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.458 . @ . . . . . 1 0.485 . . 118.0 . . . 0.0009 0.0048 0.0067 0.0009 0.0048 0.0067 . 0.1300 0.060 0.130 c . . . . . 3.903e-03 . . . 0.0010 0.0034 0.0015 0 0.0045 0.0056 0.0044 0.0017 0.0011 0.0037 0.0014 0 0.0055 0.0055 0.0043 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.469 0.0012 . . . 0.46 0.28 182 ENSG00000177943 MAMDC4 MAMDC4 . . . 1.000 0.747 . 325 0.00500185 64976 319 0.00531791 59986 Uncertain_significance . 0 . 0.523 . . . . D 0.617 0.045 . . 37 . 0.044 . . 0.202 . . . 0.618 0.274 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.626 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 4 0.291 . . . . . 0.351 . 0.439 . HET 0.12 rs117487093 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 9.0088 8.03E-4 . 4.IX 4.IX . 0.610000 . . . . 0.004771 . 0.248 . . 4.IX 0.0010 0.0042 0.0025 0.0007 5.817e-05 0.0061 0.0064 0.0053 0.0020 0.0009 0.0040 0.0012 0 0 0.0049 0.0058 0.0102 . . 0.495 . 1.622 1.622000 . . 0.610000 . . 1.0E-255 0.997 0.399 . 0.277 0.985 . 0.432 . 0.649 1.622 1.062 0.0067 . . rs117487093 rs117487093 1 1538 10 1/0 0,248,255 +. 9 139839919 T TG - C8G 1354 Complement component 8, gamma polypeptide NM_000606.2 1 877 609 NP_000597.2 P07360 duplication intron GRCh37 139839927 139839928 Chr9(GRCh37):g.139839927dup 138+17 138+17 NM_000606.2:c.138+17dup p.? p.? 1 1 120930 17 5' 72.4389 6.68312 0.842291 9.43955 72.4389 6.68312 0.842291 8.66021 0 rs752385888 yes no Frequency 1 0.000000 0 0.003195 0.006100 0.002000 0.000000 0.003000 0.004300 0.002571 0.007869 0.001403 0.002865 0.001782 0.003715 0.002034 0.000720 0.002044 0.007869 488 135 35 24 23 87 160 14 10 189806 17156 24946 8376 12910 23418 78674 19434 4892 0.000021 0.000000 0.000000 0.000000 0.000000 0.000171 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 484 135 35 24 23 83 160 14 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8008 4050 12058 68 58 126 0.00842001 0.0141188 0.0103414 0.00842001 0.0141188 0.0103414 10 G 255 Pass . . . . . . . . . . . . . . . . 0.3508772 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 114 . . . . . . 0.014 0.01 0.0084 . . . . . . . . . . . . . . 0.0069 0.0032 0 0.0015 0 0.0022 0.0095 0.0039 0.0068 0.0027 0 0 0 0.0013 0.0061 0.0039 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000176919 C8G C8G . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374027600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0077 0.0024 0.0014 0.0027 0.0018 0.0007 0.0021 0.0023 0.0037 0.0081 0.0035 0.0025 0.0068 0.0019 0.0009 0.0017 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,45 +. 9 139839919 T TG - FBXW5 13613 F-box and WD repeat domain containing 5 NM_018998.3 -1 2380 1701 NP_061871.1 Q969U6 duplication upstream GRCh37 139839919 139839920 Chr9(GRCh37):g.139839920dup -898 -898 NM_018998.3:c.-898dup p.? p.? 1 609072 -874 5' 84.0719 8.94615 0.964922 14.3847 84.0719 8.94615 0.964922 14.3847 0 rs752385888 yes no Frequency 1 0.000000 0 0.003195 0.006100 0.002000 0.000000 0.003000 0.004300 0.002571 0.007869 0.001403 0.002865 0.001782 0.003715 0.002034 0.000720 0.002044 0.007869 488 135 35 24 23 87 160 14 10 189806 17156 24946 8376 12910 23418 78674 19434 4892 0.000021 0.000000 0.000000 0.000000 0.000000 0.000171 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 484 135 35 24 23 83 160 14 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8008 4050 12058 68 58 126 0.00842001 0.0141188 0.0103414 0.00842001 0.0141188 0.0103414 10 C 255 Pass . . . . . . . . . . . . . . . . 0.3508772 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 114 . . . . . . 0.014 0.01 0.0084 . . . . . . . . . . . . . . 0.0069 0.0032 0 0.0015 0 0.0022 0.0095 0.0039 0.0068 0.0027 0 0 0 0.0013 0.0061 0.0039 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000176919 C8G C8G . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374027600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0077 0.0024 0.0014 0.0027 0.0018 0.0007 0.0021 0.0023 0.0037 0.0081 0.0035 0.0025 0.0068 0.0019 0.0009 0.0017 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,45 +. 9 139903352 G GC - ABCA2 32 ATP-binding cassette, sub-family A (ABC1), member 2 NM_212533.2 -1 8146 7401 NP_997698.1 duplication intron GRCh37 139903352 139903353 Chr9(GRCh37):g.139903353dup 7021-33 7021-33 NM_212533.2:c.7021-33dup p.? p.? 47 46 600047 -32 3' 83.5822 X.65 0.978998 8.73921 83.5822 X.65 0.978998 9.64107 0 rs59031144 yes no Frequency/1000G 2 0.000000 0 0.679113 0.588500 0.759700 0.817500 0.675000 0.543200 2489 1573 4062 5296 2038 7334 0.319717 0.435613 0.356441 0.680283 0.564387 0.643559 22 G 255 Pass 0.57 0.66 0.56 0.81 0.66 0.59 0.68 0.54 0.82 0.68 0.76 . . . . . 0.7236842 . . . 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 76 . . . . . . 0.56 0.64 0.68 . . . . . . . . . . . . . . 0.5615 0.6520 0.4749 0.7920 0.5881 0.6657 0.7033 0.7507 0.5589 0.6577 0.4751 0.7954 0.6144 0.6633 0.7052 0.7508 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000107331 ABCA2 ABCA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs397761371 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.81 . . rs59031144 rs59031144 1 1538 10 1.I 0,10,14 +rs117073885 9 139982664 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139982664 139982664 Chr9(GRCh37):g.139982664A>G 328+29 328+29 NM_016219.4:c.328+29A>G p.? p.? 2 2 604346 29 5' 71.4948 7.22101 0.765617 0 71.4948 7.22101 0.765617 0.662449 0 New Donor Site 139982663 5.42351 0.472073 67.9094 rs117073885 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.002000 0.000000 0.001000 0.001400 0.000812 0.000166 0.000552 0.003349 0.000000 0.000682 0.001066 0.000078 0.001546 0.003349 225 4 19 34 0 21 135 2 10 277218 24038 34420 10152 18868 30782 126698 25792 6468 0.000014 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 221 4 19 34 0 17 135 2 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4406 12997 9 0 9 0.00104651 0 0.000691988 0.00104651 0 0.000691988 146 transition A G A>G 0.000 -1.167 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0008 0.0014 . 0.001 0.002 . . . . . 0.44444445 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . 0.0007 0.001 . 0.0007 0.001 . 1.0549 . . . . . . . . 6.787e-04 . . . 9.632e-05 0.0008 0.0005 0 0.0003 0.0012 0.0014 0.0006 0 0.0006 0.0004 0 0.0002 0.0009 0.0014 0.0006 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.48 0.42 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . 44 0.000677173 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs117073885 . . . . . . . . . . . . . . . . . . . . . . . 0.000692 . . . . . 6.534e-05 0.0008 0.0005 0.0034 0 8.969e-05 0.0011 0.0016 0.0007 0.0003 0.0007 0.0012 0.0033 0 0 0.0010 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs117073885 rs117073885 1 1538 10 1/0 0,255,255 +rs117073885 9 139982664 A G - MAN1B1-AS1 48715 MAN1B1 antisense RNA 1 (head to head) NR_027447.1 -1 1872 0 substitution upstream GRCh37 139982664 139982664 Chr9(GRCh37):g.139982664A>G -1395 -1395 NR_027447.1:n.-1395T>C p.? p.? 1 rs117073885 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.002000 0.000000 0.001000 0.001400 0.000812 0.000166 0.000552 0.003349 0.000000 0.000682 0.001066 0.000078 0.001546 0.003349 225 4 19 34 0 21 135 2 10 277218 24038 34420 10152 18868 30782 126698 25792 6468 0.000014 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 221 4 19 34 0 17 135 2 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4406 12997 9 0 9 0.00104651 0 0.000691988 0.00104651 0 0.000691988 146 transition T C T>C 0.000 -1.167 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0008 0.0014 . 0.001 0.002 . . . . . 0.44444445 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . 0.0007 0.001 . 0.0007 0.001 . 1.0549 . . . . . . . . 6.787e-04 . . . 9.632e-05 0.0008 0.0005 0 0.0003 0.0012 0.0014 0.0006 0 0.0006 0.0004 0 0.0002 0.0009 0.0014 0.0006 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.48 0.42 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . 44 0.000677173 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs117073885 . . . . . . . . . . . . . . . . . . . . . . . 0.000692 . . . . . 6.534e-05 0.0008 0.0005 0.0034 0 8.969e-05 0.0011 0.0016 0.0007 0.0003 0.0007 0.0012 0.0033 0 0 0.0010 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs117073885 rs117073885 1 1538 10 1/0 0,255,255 +rs199642259 9 139996468 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996468 139996468 Chr9(GRCh37):g.139996468T>C 1254+344 1254+344 NM_016219.4:c.1254+344T>C p.? p.? 8 8 604346 344 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs199642259 yes no Frequency 1 0.000000 0 0.000427 0.001660 0.000134 0.000000 0.000100 0.000195 0.000153 0.002896 0.000259 0.002896 58 19 3 0 1 4 8 22 1 135778 11446 22432 7550 9964 20504 52418 7596 3868 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 19 3 0 1 4 8 22 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.094 0.448 208 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.T1301C:p.M434T . . . 0.19659443 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 646.0 . . . . . . . . . . -0.0548 . . . . . . . . 1.704e-03 . . . 0 0.0021 0.0060 0 0.03 0.0028 0 0.0014 0 0.0032 0.0071 0 0.0145 0.0028 0 0.0014 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.5 0.18 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs199642259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.066e-05 4.546e-05 0 0 0.0002 2.389e-05 0 0.0002 0.0031 0.0025 0.0046 0 0.0011 0.0132 0.0007 0.0018 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs199642259 rs199642259 1 1538 14 1/0 0,155,236 +rs758394970 9 139996494 C G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996494 139996494 Chr9(GRCh37):g.139996494C>G 1254+370 1254+370 NM_016219.4:c.1254+370C>G p.? p.? 8 8 604346 370 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs758394970 yes no Frequency 1 0.000000 0 0.000158 0.000756 0.000151 0.000000 0.000120 0.000217 0.000072 0.000102 0.000261 0.000756 21 7 3 0 1 4 4 1 1 132830 9260 19844 7520 8330 18398 55820 9822 3836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 7 3 0 1 4 4 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.331 -2.377 192 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1327G:p.L443V . . . 0.13828239 . . @ 95 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . . . . . . . . . -0.5485 . . . . . . . . 1.299e-03 . . . 0.0061 0.0016 0 0 0.0198 0.0021 0 0.0003 0.0089 0.0019 0 0 0.0062 0.0021 0 0.0003 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs758394970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 8.333e-05 0.0001 0 0.0001 0.0001 0 0 0.0002 0.0010 0.0005 0.0014 0 0 0 0.0003 0.0012 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,255 +rs767492543 9 139996497 T G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996497 139996497 Chr9(GRCh37):g.139996497T>G 1254+373 1254+373 NM_016219.4:c.1254+373T>G p.? p.? 8 8 604346 373 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 New Donor Site 139996496 2.73736 0.115205 62.7735 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28934 7782 786 292 1492 0 14244 3396 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 54 Genomes transversion T G T>G 0.189 -0.360 180 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.T1330G:p.L444V . . . 0.11353712 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . . . . . . . . . -0.2303 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,144,255 +. 9 139996502 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996502 139996502 Chr9(GRCh37):g.139996502C>T 1254+378 1254+378 NM_016219.4:c.1254+378C>T p.? p.? 8 8 604346 378 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 0.000073 1 0 0 0 0 0 1 0 0 27786 7498 756 290 1414 0 13678 3252 898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition C T C>T 0.000 -1.651 179 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1335T:p.H445H . . . 0.11035422 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 734.0 . . . . . . . . . . -0.5727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.599e-05 0 0 0 0 7.311e-05 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,141,255 +. 9 139996503 A T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996503 139996503 Chr9(GRCh37):g.139996503A>T 1254+379 1254+379 NM_016219.4:c.1254+379A>T p.? p.? 8 8 604346 379 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139996517 7.02416 0.035075 81.9917 7.89285 0.144115 87.3922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11992 3392 208 224 370 0 6796 724 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 132 Genomes transversion A T A>T 0.000 -1.086 191 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.A1336T:p.T446S . . . 0.13655172 . . @ 99 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 725.0 . . . . . . . . . . -0.5572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,144,252 +. 9 139996533 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996533 139996533 Chr9(GRCh37):g.139996533T>C 1254+409 1254+409 NM_016219.4:c.1254+409T>C p.? p.? 8 8 604346 409 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 transition T C T>C 0.976 0.851 197 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.T1366C:p.C456R . . . 0.1573604 . . @ 124 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 788.0 . . . . . . . . . . -0.1257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,254 +. 9 139996540 T TTCAC - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 insertion intron GRCh37 139996540 139996541 Chr9(GRCh37):g.139996540_139996541insTCAC 1254+416 1254+417 NM_016219.4:c.1254+416_1254+417insTCAC p.? p.? 8 8 604346 416 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs779923335 yes no Frequency 1 0.000000 0 TCAC 255 Pass . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.1373_1374insTCAC:p.M458fs . . . 0.18688118 . . . 151 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 808 . . . . . . . . . . . . . . . . . . . 1.131e-04 . . . 0.0020 0.0001 0 0 0 0 0 0 0.0029 0.0001 0 0 0 0 0 0 . frameshift_insertion . . . . intronic exonic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779923335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,73 +. 9 139996541 G A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996541 139996541 Chr9(GRCh37):g.139996541G>A 1254+417 1254+417 NM_016219.4:c.1254+417G>A p.? p.? 8 8 604346 417 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 transition G A G>A 0.984 0.367 188 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.G1374A:p.M458I . . . 0.13630731 . . @ 110 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 807.0 . . . . . . . . . . 0.0326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,139,248 +rs113202004 9 139996552 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996552 139996552 Chr9(GRCh37):g.139996552C>T 1254+428 1254+428 NM_016219.4:c.1254+428C>T p.? p.? 8 8 604346 428 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139996551 6.50875 0.348926 81.9917 7.79255 0.60127 81.9917 rs113202004 yes no Frequency 1 0.000000 0 0.000215 0.000795 0.000042 0.000000 0.000091 0.000000 0.000141 0.001216 0.000455 0.001216 33 9 1 0 1 0 9 11 2 153688 11322 23750 8322 10972 22246 63638 9044 4394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 9 1 0 1 0 9 11 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.764 0.044 141 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1385T:p.A462V . . . 0.13796791 . . @ 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 935.0 . . . . . . . . . . 0.2344 . . . . . . . . 3.846e-03 . . . 0.0302 0.0054 0.0303 0 0.0294 0.0065 0 0 0.0445 0.0048 0.0364 0 0.0039 0.0063 0 0 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.49 0.21 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs113202004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.77e-05 0 0 0.0001 0 7.675e-05 0 0 0.0018 0.0013 0.0020 0 0 0.0057 0.0004 0.0030 . . . . . . . . . . . 1.0E-141 . . . . . . . . . . . . . rs73569521 rs113202004 rs113202004 1 1538 10 1/0 0,136,238 +rs200324609 9 139996589 G A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996589 139996589 Chr9(GRCh37):g.139996589G>A 1254+465 1254+465 NM_016219.4:c.1254+465G>A p.? p.? 8 8 604346 465 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs200324609 no no 0 0.000000 0 0.000035 0.000106 0.000000 0.000000 0.000000 0.000000 0.000070 0.000000 0.000000 0.000106 5 1 0 0 0 0 4 0 0 142376 9414 23114 8046 10480 21818 57122 8322 4060 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.008 -0.279 199 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.G1422A:p.R474R . . . 0.16125955 . . @ 169 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1048.0 . . . . . . . . . . 0.1179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.45 0.21 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200324609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 0.0003 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . rs200324609 rs200324609 1 1538 10 1/0 0,130,219 +rs564595892 9 139996590 C A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996590 139996590 Chr9(GRCh37):g.139996590C>A 1254+466 1254+466 NM_016219.4:c.1254+466C>A p.? p.? 8 8 604346 466 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000043 0.000070 0.000000 0.000000 0.000000 0.000044 0.000075 0.000000 0.000000 0.000075 7 1 0 0 0 1 5 0 0 162804 14246 24474 8386 11354 22538 66630 10456 4720 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.008 0.044 145 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1423A:p.R475S . . . 0.111919925 . . @ 123 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1099.0 . . . . . . . . . . 0.2086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . 0.0072 . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.489e-05 0 0 0 0 1.904e-05 0 4.437e-05 0.0001 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-145 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,125,255 +rs757586878 9 139996604 C G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996604 139996604 Chr9(GRCh37):g.139996604C>G 1254+480 1254+480 NM_016219.4:c.1254+480C>G p.? p.? 8 8 604346 480 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs757586878 yes no Frequency 1 0.000000 0 0.001131 0.001585 0.001949 0.000165 0.001010 0.001475 0.000747 0.001014 0.002914 0.001949 98 6 25 1 4 21 28 6 7 86664 3786 12824 6054 3962 14236 37484 5916 2402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 98 6 25 1 4 21 28 6 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -3.830 213 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.C1437G:p.C479W . . . 0.19901478 . . @ 202 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1015.0 . . . . . . . . . . -0.5988 . . . . . . . . 6.740e-04 . . . 0.004 0.0012 0.0093 0 0.0070 0.0019 0 0 0.0066 0.0011 0.0112 0 0.0016 0.0017 0 0 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs757586878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0012 0.0020 0.0002 0.0011 0.0002 0.0008 0.0033 0.0015 0.0012 0.0009 0 0 0 0.0088 0.0003 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,136,237 +rs77700193 9 139996668 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996668 139996668 Chr9(GRCh37):g.139996668T>C 1254+544 1254+544 NM_016219.4:c.1254+544T>C p.? p.? 8 8 604346 544 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs77700193 yes no Frequency 1 0.000000 0 0.000155 0.000169 0.000329 0.000000 0.000424 0.000095 0.000086 0.000230 0.000000 0.000424 22 2 7 0 4 2 5 2 0 142274 11832 21254 7908 9438 20966 58100 8698 4078 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 2 7 0 4 2 5 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.441 -3.184 170 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.T1501C:p.C501R . . . 0.10352423 . . @ 94 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 908.0 . . . . . . . . . . -0.5314 . . . . . . . . 1.151e-04 . . . 0 6.973e-05 0 0 0.0052 0 0 0 0 0.0001 0 0 0.0012 0 0 0 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.6 0.17 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs77700193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.123e-05 0.0003 0 0.0002 0 0 0 9.539e-05 0.0004 0.0006 0.0021 0 0.0019 0.0010 0.0005 0 . . . . . . . . . . . 1.0E-170 . . . . . . . . . . . . . . rs77700193 rs77700193 1 1538 10 1/0 0,131,235 +rs77466688 9 139996685 G T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996685 139996685 Chr9(GRCh37):g.139996685G>T 1254+561 1254+561 NM_016219.4:c.1254+561G>T p.? p.? 8 8 604346 561 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs77466688 no no 0 0.000000 0 0.000228 0.000538 0.000538 0.000000 0.000147 0.000051 0.000121 0.000613 0.000000 0.000613 28 5 10 0 1 1 6 5 0 122936 9290 18600 7458 6824 19506 49546 8150 3562 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 5 10 0 1 1 6 5 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.646 -2.216 194 PASS . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.G1518T:p.W506C . . . 0.1425641 . . @ 139 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 975.0 . . . . . . . . . . -0.2835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.52 0.19 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs77466688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.162e-05 0.0005 0 0 0 0 0 5.127e-05 0.0011 0.0013 0.0032 0 0.0013 0.0033 0.0010 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs77466688 rs77466688 1 1538 10 1/0 0,131,216 +. 9 139996691 ACATT A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139996695 139996698 Chr9(GRCh37):g.139996695_139996698del 1254+571 1254+574 NM_016219.4:c.1254+571_1254+574del p.? p.? 8 8 604346 571 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs869310887 no no 0 0.000000 0 0.000043 0.000000 0.000090 0.000000 0.000000 0.000000 0.000018 0.000351 0.000000 0.000351 6 0 2 0 0 0 1 3 0 139322 10758 22120 7890 9298 21460 55244 8546 4006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes TCAT 255 Pass . . . . . . . . . . . . MAN1B1:uc004clc.3:exon9:c.1525_2028del:p.H509fs . . . 0.16684842 . . . 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . intronic exonic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.036e-06 4.591e-05 0 0 0 0 0 0 0 0.0003 0.0029 0 0 0.0018 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,78 +rs62584505 9 139996698 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996698 139996698 Chr9(GRCh37):g.139996698T>C 1254+574 1254+574 NM_016219.4:c.1254+574T>C p.? p.? 8 8 604346 574 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs62584505 yes no Frequency 1 0.000000 0 0.000910 0.005902 0.001812 0.000737 0.000204 0.000832 0.000633 0.000308 0.000000 0.005902 47 7 16 2 1 6 14 1 0 51666 1186 8828 2712 4896 7210 22124 3244 1466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 7 16 2 1 6 14 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.819 1.577 233 PASS . . . . . . . . . . . . . . . . 0.25745857 . . @ 233 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 905.0 . . . . . . . . . . 0.2393 . . . . . . . . 9.452e-04 . . . 0.0043 0.0004 0 0 0 0.0004 0 0 0.0055 0.0004 0 0 0 0.0005 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.27 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs62584505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0006 0.0018 0.0008 0.0002 0 0.0001 0 0.0008 0.0134 0.0027 0 0 0 0.0014 0.0024 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs62584505 rs62584505 rs62584505 rs62584505 1 1538 10 1/0 0,146,219 +. 9 139996768 T TAA - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 insertion intron GRCh37 139996769 139996770 Chr9(GRCh37):g.139996769_139996770insAA 1254+645 1254+646 NM_016219.4:c.1254+645_1254+646insAA p.? p.? 8 8 604346 645 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 AA 255 Pass . . . . . . . . . . . . . . . . 0.19083156 . . . 179 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,72 +rs11145992 9 139996778 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996778 139996778 Chr9(GRCh37):g.139996778C>T 1254+654 1254+654 NM_016219.4:c.1254+654C>T p.? p.? 8 8 604346 654 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs11145992 no no 0 0.000000 0 0.005417 0.023810 0.000000 0.000000 0.004762 0.000000 0.001515 0.019324 0.004348 0.023810 44 25 0 0 1 0 9 8 1 8122 1050 102 174 210 0 5942 414 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 25 0 0 1 0 9 8 1 0 0 0 0 0 0 0 0 0 RF 170 Genomes transition C T C>T 0.937 0.528 186 PASS . . . . . . . . . . . . . . . . 0.1369248 . . @ 122 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 891.0 . . . . . . . . . . -0.4293 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.26 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs11145992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0238 0.0054 0 0 0.0048 0.0193 0.0015 0.0043 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . rs11145992 rs11145992 rs11145992 rs11145992 1 1538 13 1/0 0,140,252 +rs11145993 9 139996790 C A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139996790 139996790 Chr9(GRCh37):g.139996790C>A 1254+666 1254+666 NM_016219.4:c.1254+666C>A p.? p.? 8 8 604346 666 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs11145993 no no 0 0.000000 0 0.001698 0.003890 0.000000 0.000000 0.000000 0.000000 0.000478 0.007261 0.002451 0.007261 23 11 0 0 0 0 4 7 1 13548 2828 250 208 514 0 8376 964 408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 11 0 0 0 0 4 7 1 0 0 0 0 0 0 0 0 0 RF 99 Genomes transversion C A C>A 0.732 0.286 171 PASS . . . . . . . . . . . . . . . . 0.100217864 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 918.0 . . . . . . . . . . -0.0534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.27 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs11145993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0039 0.0017 0 0 0 0.0073 0.0005 0.0025 . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . rs11145993 rs11145993 rs11145993 rs11145993 1 1538 10 1/0 0,130,255 +. 9 139997101 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997101 139997101 Chr9(GRCh37):g.139997101C>T 1254+977 1254+977 NM_016219.4:c.1254+977C>T p.? p.? 8 8 604346 977 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Donor Strongly Activated 139997099 59.1043 III.71 0.027372 71.1743 rs972554973 no no 0 0.000000 0 transition C T C>T 0.835 0.286 167 PASS . . . . . . . . . . . . . . . . 0.11784141 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 908.0 . . . . . . . . . . -0.3698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-167 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,133,244 +. 9 139997126 A T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997126 139997126 Chr9(GRCh37):g.139997126A>T 1254+1002 1254+1002 NM_016219.4:c.1254+1002A>T p.? p.? 8 8 604346 1002 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139997142 6.59941 0.339933 79.1194 8.42218 0.59525 79.1194 transversion A T A>T 0.016 -0.360 194 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 160 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1120.0 . . . . . . . . . . -0.1089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,125,213 +rs62584552 9 139997132 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997132 139997132 Chr9(GRCh37):g.139997132A>G 1254+1008 1254+1008 NM_016219.4:c.1254+1008A>G p.? p.? 8 8 604346 1008 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs62584552 no no 0 0.000000 0 0.001624 0.016216 0.000000 0.000000 0.000000 0.000000 0.000374 0.006494 0.000000 0.016216 11 6 0 0 0 0 2 3 0 6772 370 116 174 132 0 5352 462 166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 6 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 244 Genomes transition A G A>G 0.031 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.3719165 . . @ 392 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1054.0 . . . . . . . . . . -0.4018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.29 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62584552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0162 0.0016 0 0 0 0.0065 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62584552 rs62584552 rs62584552 rs62584552 1 1538 10 1/0 0,148,183 +. 9 139997133 CTG C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997135 139997136 Chr9(GRCh37):g.139997135_139997136del 1254+1011 1254+1012 NM_016219.4:c.1254+1011_1254+1012del p.? p.? 8 8 604346 1011 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs72101160 yes no Frequency/1000G 2 0.000000 0 0.000599 0.001500 0.001000 0.000000 0.000000 0.000000 0.000114 0.000148 0.000000 0.000000 0.000000 0.000000 0.000000 0.000351 0.001179 0.000351 3 1 0 0 0 0 0 1 1 26402 6766 676 282 1262 0 13718 2850 848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 RF 64 Genomes GT 255 Pass . . . . . 0.0015 0.0006 . . . 0.001 . . . . . 0.12032086 . . . 135 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 1122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs72101160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0 0.0004 0 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72101160 rs72101160 rs72101160 1 1538 10 1.I 0,5,92 +rs201348497 9 139997142 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997142 139997142 Chr9(GRCh37):g.139997142A>G 1254+1018 1254+1018 NM_016219.4:c.1254+1018A>G p.? p.? 8 8 604346 1018 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Weakly Activated 139997142 6.59941 0.339933 79.1194 VI.75 0.691137 83.0302 rs201348497 yes no Frequency 1 0.000000 0 0.001029 0.002865 0.009434 0.000000 0.006757 0.000000 0.000396 0.000000 0.006024 0.009434 7 2 1 0 1 0 2 0 1 6800 698 106 152 148 0 5054 476 166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 1 0 1 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 248 Genomes transition A G A>G 0.016 -2.054 248 PASS . . . . . . . . . . . . . . . . 0.29816514 . . @ 325 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1090.0 . . . . . . . . . . -0.5672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.3 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs201348497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0010 0.0094 0 0.0068 0 0.0004 0.0060 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . rs201348497 rs201348497 1 1538 10 1/0 0,141,191 +rs62584553 9 139997144 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997144 139997144 Chr9(GRCh37):g.139997144A>G 1254+1020 1254+1020 NM_016219.4:c.1254+1020A>G p.? p.? 8 8 604346 1020 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs62584553 no no 0 0.000000 0 0.000892 0.007874 0.000000 0.000000 0.008065 0.000000 0.000546 0.000000 0.000000 0.008065 6 2 0 0 1 0 3 0 0 6724 254 86 176 124 0 5498 426 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 1 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 257 Genomes transition A G A>G 0.016 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.43140638 . . @ 500 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1159.0 . . . . . . . . . . -0.4302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.3 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62584553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0009 0 0 0.0081 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62584553 rs62584553 rs62584553 rs62584553 1 1538 10 1/0 0,148,173 +. 9 139997147 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997147 139997147 Chr9(GRCh37):g.139997147C>T 1254+1023 1254+1023 NM_016219.4:c.1254+1023C>T p.? p.? 8 8 604346 1023 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Donor Strongly Activated 139997145 77.2407 4.94431 0.45272 77.3044 transition C T C>T 0.024 -0.440 175 PASS . . . . . . . . . . . . . . . . 0.11128776 . . @ 140 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1258.0 . . . . . . . . . . -0.0387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 13 1/0 0,118,241 +rs35757228 9 139997157 C G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997157 139997157 Chr9(GRCh37):g.139997157C>G 1254+1033 1254+1033 NM_016219.4:c.1254+1033C>G p.? p.? 8 8 604346 1033 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs35757228 no no 0 0.000000 0 0.004489 0.037267 0.045455 0.000000 0.000000 0.000000 0.001291 0.013089 0.000000 0.045455 26 12 3 0 0 0 6 5 0 5792 322 66 144 94 0 4646 382 138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 12 3 0 0 0 6 5 0 0 0 0 0 0 0 0 0 0 RF 313 Genomes transversion C G C>G 0.315 -2.054 220 PASS . . . . . . . . . . . . . . . . 0.36027876 . . @ 517 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1435.0 . . . . . . . . . . -0.5289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.29 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs35757228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0373 0.0045 0.0455 0 0 0.0131 0.0013 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs35757228 rs35757228 rs35757228 rs35757228 1 1538 10 1/0 0,138,170 +. 9 139997160 T G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997160 139997160 Chr9(GRCh37):g.139997160T>G 1254+1036 1254+1036 NM_016219.4:c.1254+1036T>G p.? p.? 8 8 604346 1036 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 New Donor Site 139997159 2.73736 0.115205 62.7735 transversion T G T>G 0.283 -0.763 175 PASS . . . . . . . . . . . . . . . . 0.10176125 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1533.0 . . . . . . . . . . -0.1712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,108,234 +. 9 139997167 CATTCATG C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997168 139997174 Chr9(GRCh37):g.139997168_139997174del 1254+1044 1254+1050 NM_016219.4:c.1254+1044_1254+1050del p.? p.? 8 8 604346 1044 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 ATTCATG 255 Pass . . . . . . . . . . . . . . . . 0.27226463 . . . 428 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 1572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,57 +rs112103306 9 139997209 C A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997209 139997209 Chr9(GRCh37):g.139997209C>A 1254+1085 1254+1085 NM_016219.4:c.1254+1085C>A p.? p.? 8 8 604346 1085 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs112103306 no no 0 0.000000 0 0.001433 0.007788 0.000000 0.005263 0.008621 0.000000 0.000588 0.001220 0.000000 0.008621 13 5 0 1 2 0 4 1 0 9072 642 156 190 232 0 6798 820 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 5 0 1 2 0 4 1 0 0 0 0 0 0 0 0 0 0 RF 299 Genomes transversion C A C>A 0.000 0.125 167 PASS . . . . . . . . . . . . . . . . 0.14989817 . . @ 368 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 2455.0 . . . . . . . . . . -0.1035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.29 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs112103306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0078 0.0014 0 0.0053 0.0086 0.0012 0.0006 0 . . . . . . . . . . . 1.0E-167 . . . . . . . . . . . . . . rs112103306 rs112103306 1 1538 10 1/0 0,94,183 +. 9 139997212 A G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997212 139997212 Chr9(GRCh37):g.139997212A>G 1254+1088 1254+1088 NM_016219.4:c.1254+1088A>G p.? p.? 8 8 604346 1088 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9594 898 190 182 230 0 6856 918 320 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 283 Genomes transition A G A>G 0.000 -1.974 159 PASS . . . . . . . . . . . . . . . . 0.115137614 . . @ 251 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 2180.0 . . . . . . . . . . -0.4800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,95,208 +. 9 139997213 C CTG - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 insertion intron GRCh37 139997214 139997215 Chr9(GRCh37):g.139997214_139997215insGT 1254+1090 1254+1091 NM_016219.4:c.1254+1090_1254+1091insGT p.? p.? 8 8 604346 1090 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs866925107 no no 0 0.000000 0 0.000724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000328 0.006329 0.000000 0.006329 6 0 0 0 0 0 2 4 0 8284 704 142 188 306 0 6094 632 218 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 2 4 0 0 0 0 0 0 0 0 0 0 RF 327 Genomes GT 255 Pass . . . . . . . . . . . . . . . . 0.14471544 . . . 356 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 2460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0 0 0 0.0063 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs66976915 rs66976915 rs66976915 1 1538 10 1.I 0,6,84 +rs750296036 9 139997344 G A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997344 139997344 Chr9(GRCh37):g.139997344G>A 1254+1220 1254+1220 NM_016219.4:c.1254+1220G>A p.? p.? 8 8 604346 1220 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs750296036 no no 0 0.000000 0 0.000746 0.001786 0.000000 0.000000 0.000000 0.000000 0.000605 0.000797 0.000000 0.001786 10 4 0 0 0 0 5 1 0 13396 2240 308 190 696 0 8268 1254 440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 4 0 0 0 0 5 1 0 0 0 0 0 0 0 0 0 0 RF 148 Genomes transition G A G>A 0.126 -0.763 192 PASS . . . . . . . . . . . . . . . . 0.14516129 . . @ 243 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1674.0 . . . . . . . . . . -0.1854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs750296036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0007 0 0 0 0.0008 0.0006 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,109,217 +. 9 139997351 TCAG T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997352 139997354 Chr9(GRCh37):g.139997352_139997354del 1254+1228 1254+1230 NM_016219.4:c.1254+1228_1254+1230del p.? p.? 8 8 604346 1228 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000337 0.000466 0.000000 0.000000 0.000000 0.000000 0.000321 0.000000 0.001374 0.000466 8 3 0 0 0 0 4 0 1 23716 6442 562 230 1180 0 12456 2118 728 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 3 0 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 RF 81 Genomes CAG 255 Pass . . . . . . . . . . . . . . . . 0.123934425 . . . 189 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 1525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0003 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,91 +. 9 139997360 TTACAC T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997361 139997365 Chr9(GRCh37):g.139997361_139997365del 1254+1237 1254+1241 NM_016219.4:c.1254+1237_1254+1241del p.? p.? 8 8 604346 1237 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24702 6966 626 214 1278 0 12438 2400 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 75 Genomes TACAC 255 Pass . . . . . . . . . . . . . . . . 0.47501582 . . . 751 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 1581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,32 +. 9 139997402 T G - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997402 139997402 Chr9(GRCh37):g.139997402T>G 1254+1278 1254+1278 NM_016219.4:c.1254+1278T>G p.? p.? 8 8 604346 1278 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 transversion T G T>G 0.961 -0.117 198 PASS . . . . . . . . . . . . . . . . 0.15167683 . . @ 199 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1312.0 . . . . . . . . . . 0.0283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,120,219 +rs550035288 9 139997415 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997415 139997415 Chr9(GRCh37):g.139997415C>T 1254+1291 1254+1291 NM_016219.4:c.1254+1291C>T p.? p.? 8 8 604346 1291 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs550035288 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.000000 0.002900 0.000235 0.000888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002874 0.000888 3 2 0 0 0 0 0 0 1 12766 2252 222 240 726 0 8004 974 348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 135 Genomes transition C T C>T 0.031 0.125 202 PASS . . . . . . 0.0006 0.0029 . . 0.001 . . . . . 0.1612628 . . @ 189 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1172.0 . . . . . . . . . . -0.6052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs550035288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0002 0 0 0 0 0 0.0029 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,126,218 +rs201278795 9 139997687 G C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997687 139997687 Chr9(GRCh37):g.139997687G>C 1254+1563 1254+1563 NM_016219.4:c.1254+1563G>C p.? p.? 8 8 604346 1563 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139997696 6.09035 0.275048 84.6513 6.89263 0.483117 87.3922 rs201278795 yes no Frequency 1 0.000000 0 0.002272 0.007331 0.000000 0.000000 0.000000 0.000000 0.001151 0.006173 0.000000 0.007331 21 10 0 0 0 0 7 4 0 9242 1364 166 138 596 0 6082 648 248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 10 0 0 0 0 7 4 0 0 0 0 0 0 0 0 0 0 RF 143 Genomes transversion G C G>C 0.157 -1.409 228 PASS . . . . . . . . . . . . . . . . 0.24404761 . . @ 164 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 672.0 . . . . . . . . . . -0.2599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.3 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs201278795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0073 0.0023 0 0 0 0.0062 0.0012 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . rs201278795 rs201278795 1 1538 10 1/0 0,158,239 +. 9 139997706 C CGGT - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 duplication intron GRCh37 139997710 139997711 Chr9(GRCh37):g.139997708_139997710dup 1254+1584 1254+1586 NM_016219.4:c.1254+1584_1254+1586dup p.? p.? 8 8 604346 1586 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16672 3524 364 242 878 0 9776 1372 516 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 77 Genomes GTG 255 Pass . . . . . . . . . . . . . . . . 0.20221607 . . . 146 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,69 +. 9 139997716 C T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997716 139997716 Chr9(GRCh37):g.139997716C>T 1254+1592 1254+1592 NM_016219.4:c.1254+1592C>T p.? p.? 8 8 604346 1592 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs956438953 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14552 2574 300 268 750 0 9110 1092 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 95 Genomes transition C T C>T 0.992 1.013 192 PASS . . . . . . . . . . . . . . . . 0.13868614 . . @ 95 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 685.0 . . . . . . . . . . 0.1383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . 20 0.000307806 64976 20 0.000333411 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,147,252 +. 9 139997717 A T - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997717 139997717 Chr9(GRCh37):g.139997717A>T 1254+1593 1254+1593 NM_016219.4:c.1254+1593A>T p.? p.? 8 8 604346 1593 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 Cryptic Acceptor Strongly Activated 139997731 7.08689 0.087811 81.9917 7.95558 0.294222 87.3922 rs989251332 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12072 1888 260 240 660 0 7840 842 342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 115 Genomes transversion A T A>T 0.992 0.851 198 PASS . . . . . . . . . . . . . . . . 0.15277778 . . @ 110 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 720.0 . . . . . . . . . . 0.1666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . 24 0.000369367 64976 24 0.000400093 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,255 +. 9 139997720 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997720 139997720 Chr9(GRCh37):g.139997720T>C 1254+1596 1254+1596 NM_016219.4:c.1254+1596T>C p.? p.? 8 8 604346 1596 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 transition T C T>C 0.976 0.205 212 PASS . . . . . . . . . . . . . . . . 0.1874106 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 699.0 . . . . . . . . . . 0.1757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,151,246 +. 9 139997750 ATT A - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 deletion intron GRCh37 139997751 139997752 Chr9(GRCh37):g.139997751_139997752del 1254+1627 1254+1628 NM_016219.4:c.1254+1627_1254+1628del p.? p.? 8 8 604346 1627 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs34635386 no no 0 0.000000 0 TT 255 Pass . . . . . . . . . . . . . . . . 0.33171913 . . . 274 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34635386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72469431 . . 1 1538 10 1.I 0,11,48 +rs74649125 9 139997791 T C - MAN1B1 6823 Mannosidase alpha class 1B member 1 NM_016219.4 1 2769 2100 NP_057303.2 Q9UKM7 substitution intron GRCh37 139997791 139997791 Chr9(GRCh37):g.139997791T>C 1254+1667 1254+1667 NM_016219.4:c.1254+1667T>C p.? p.? 8 8 604346 1667 5' 94.9812 11.083 0.99734 XI.09 94.9812 11.083 0.99734 XI.09 0 rs74649125 yes no Frequency/1000G 2 0.000000 0 0.001198 0.002300 0.002000 0.001000 0.000000 0.000000 0.000765 0.010730 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.010730 5 5 0 0 0 0 0 0 0 6532 466 108 134 246 0 4958 462 158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 240 Genomes transition T C T>C 0.024 0.125 255 PASS . . . . . 0.0023 0.0012 . 0.001 . 0.002 . . . . . 0.372 . . @ 279 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 750.0 . . . . . . . . . . -0.3048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.58 0.21 182 ENSG00000177239 MAN1B1 MAN1B1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74649125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0107 0.0008 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74649125 rs74649125 1 1538 10 1/0 0,167,220 +rs769002081 9 140318088 C T - EXD3 26023 Exonuclease 3'-5' domain containing 3 NM_017820.4 -1 2883 2631 NP_060290.3 Q8N9H8 substitution upstream GRCh37 140318088 140318088 Chr9(GRCh37):g.140318088C>T -570 -570 NM_017820.4:c.-570G>A p.? p.? 1 -523 5' 89.8591 9.60237 0.96283 16.1481 89.8591 9.60237 0.96283 16.1481 0 rs769002081 yes no Frequency 1 C 0.000000 0 0.000201 0.000000 0.000061 0.000561 0.000000 0.000000 0.000332 0.000224 0.000000 0.000561 24 0 1 4 0 0 17 2 0 119486 10338 16276 7124 4592 17710 51204 8916 3326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 0 1 4 0 0 17 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.472 0.044 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.461 . @ . . . . . 1 0.295 . . 48.0 . . . . . . . . . . -0.5635 -0.691 -0.564 c . . . . . 1.225e-04 . . . 0 0 0 0 0 0 0 0 0 0.0001 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000188747 NOXA1 NOXA1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.358 . . . . D 0.861 0.189 . . 37 . 0.388 . . 0.486 . . . 0.552 0.330 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.571 . . 0.485 . . . . . . 0 0.342 . . . . . 0.072 . 0.323 . HET 0 rs769002081 . . . . . . . . . . . . III.31 0.0 . IV.31 0.185 . 0.000000 . . . . . . 0.210 . . . 0 0.0002 6.446e-05 0.0006 0 0.0003 0.0003 0 0 0 0.0002 0 0 0 0 0.0003 0 . . 0.088 . -0.267 -0.267000 . . 0.000000 . . 1.0E-255 0.009 0.180 . 0.132 0.051 . 0.202 . 0.123 -0.267 0.849 . . . . . 1 1538 10 1/0 0,255,255 +rs769002081 9 140318088 C T - NOXA1 10668 NADPH oxidase activator 1 NM_006647.1 1 1633 1452 NP_006638.1 substitution missense exon GRCh37 140318088 140318088 Chr9(GRCh37):g.140318088C>T 107 107 NM_006647.1:c.107C>T p.Pro36Leu p.Pro36Leu 1 611255 -71 5' 80.8983 8.18959 0.609806 14.2614 80.8983 8.18959 0.609806 14.1117 0 Cryptic Acceptor Weakly Activated 140318098 4.21518 0.23004 71.185 4.33864 0.278437 74.4677 rs769002081 yes no Frequency 1 C 0.000000 0 0.000201 0.000000 0.000061 0.000561 0.000000 0.000000 0.000332 0.000224 0.000000 0.000561 24 0 1 4 0 0 17 2 0 119486 10338 16276 7124 4592 17710 51204 8916 3326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 0 1 4 0 0 17 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.472 0.044 P Pro CCG 0.115 L Leu CTG 0.404 36 12 9 Frog -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0.03 3.VII bad 6.567E-3 0.02726 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.461 . @ . . . . . 1 0.295 . . 48.0 . . . . . . . . . . -0.5635 -0.691 -0.564 c . . . . . 1.225e-04 . . . 0 0 0 0 0 0 0 0 0 0.0001 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.143 @ . . . . . . ENSG00000188747 NOXA1 NOXA1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.358 . . . . D 0.861 0.189 . . 37 . 0.388 . . 0.486 . . . 0.552 0.330 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.571 . . 0.485 . . . . . . 0 0.342 . . . . . 0.072 . 0.323 . HET 0 rs769002081 . . . . . . . . . . . . III.31 0.0 . IV.31 0.185 . 0.000000 . . . . . . 0.210 . . . 0 0.0002 6.446e-05 0.0006 0 0.0003 0.0003 0 0 0 0.0002 0 0 0 0 0.0003 0 . . 0.088 . -0.267 -0.267000 . . 0.000000 . . 1.0E-255 0.009 0.180 . 0.132 0.051 . 0.202 . 0.123 -0.267 0.849 . . . . . 1 1538 10 1/0 0,255,255 +rs41302689 9 140605372 C T - EHMT1 24650 Euchromatic histone lysine methyltransferase 1 NM_024757.4 1 5108 3897 NP_079033.4 Q9H9B1 substitution intron GRCh37 140605372 140605372 Chr9(GRCh37):g.140605372C>T 22-47 22-47 NM_024757.4:c.22-47C>T p.? p.? 2 1 607001 -47 3' 93.0817 12.1636 0.977693 VIII.03 93.0817 12.1636 0.977693 VIII.15 0 rs41302689 yes no Frequency/1000G 2 C 0.000000 0 0.003195 0.000000 0.000000 0.001000 0.014900 0.000000 0.006759 0.002980 0.003686 0.003231 0.000224 0.002134 0.012282 0.002093 0.008077 0.012282 1325 52 95 28 3 50 1015 41 41 196038 17450 25770 8666 13412 23432 82642 19590 5076 0.000041 0.000000 0.000078 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 4 0 1 0 0 0 3 0 0 1317 52 93 28 3 50 1009 41 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7034 3117 10151 88 11 99 0.0123561 0.00351662 0.00965854 0.0123561 0.00351662 0.00965854 8 transition C T C>T 0.000 -0.360 255 PASS . 0.01 . 0.0017 0.01 . 0.0032 . 0.001 0.015 . . . . . . 0.4563107 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.0035 0.0097 0.012 0.0035 0.0097 0.012 . -0.3060 . . . . . . . . 4.960e-03 . . . 0.0040 0.0071 0.0044 0 0.0038 0.0129 0.0174 0.0018 0.0034 0.0066 0.0041 0 0.0036 0.0121 0.0158 0.0018 . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.34 0.08 182 ENSG00000181090 EHMT1 EHMT1 . . . . . . 591 0.00909567 64976 575 0.00958557 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41302689 . . . . . . . . . . . . . . . . . . . . . . . 0.009659 . . . . . 0.0024 0.0066 0.0036 0.0032 0.0003 0.0019 0.0123 0.0073 0.0021 0.0036 0.0077 0.0048 0.0033 0 0.0032 0.0121 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 rs41302689 rs41302689 rs41302689 rs41302689 1 1538 10 1/0 0,255,255 +. 9 141069129 G A - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069129 141069129 Chr9(GRCh37):g.141069129G>A 828 828 NR_027156.1:n.828G>A 2 -196 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.85146 0 transition G A G>A 0.055 0.205 226 PASS . . . . . . . . . . . . . . . . 0.23529412 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R276|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.2700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . . . . ENSG00000159247 TUBBP5 TUBBP5 . uc010ncq.3:c.-13G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201567226 9 141069139 C A - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069139 141069139 Chr9(GRCh37):g.141069139C>A 838 838 NR_027156.1:n.838C>A 2 -186 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.85146 0 rs201567226 yes no Frequency 1 0.000000 0 transversion C A C>A 0.004 -1.167 209 PASS . . . . . . . . . . . . . . . . 0.29268292 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H280N|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.6821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . 0.28 0.06 182 ENSG00000159247 TUBBP5 TUBBP5 . uc010ncq.3:c.-3C>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201567226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs201567226 rs201567226 1 1538 10 1/0 0,255,255 +. 9 141069147 A T - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069147 141069147 Chr9(GRCh37):g.141069147A>T 846 846 NR_027156.1:n.846A>T 2 -178 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.85146 0 transversion A T A>T 0.031 0.125 233 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.A6T:p.E2D . . . 0.25641027 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 39.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E282D|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.3482 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 9 141069224 G T - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069224 141069224 Chr9(GRCh37):g.141069224G>T 923 923 NR_027156.1:n.923G>T 2 -101 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.85146 0 transversion G T G>T 0.024 0.205 176 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.G83T:p.W28L . . . 0.10638298 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tTg|W308L|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.2130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs77616863 9 141069245 G C - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069245 141069245 Chr9(GRCh37):g.141069245G>C 944 944 NR_027156.1:n.944G>C 2 -80 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 6.81029 0 rs77616863 no no 0 0.000000 0 transversion G C G>C 0.043 -1.167 255 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.G104C:p.S35T . . . 0.36585367 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 41.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aCc|S315T|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.6792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.05 182 ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200723736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77616863 rs200723736 1 1538 10 1/0 0,255,255 +rs377477518 9 141069266 G A - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069266 141069266 Chr9(GRCh37):g.141069266G>A 965 965 NR_027156.1:n.965G>A 2 -59 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 7.16254 0 rs377477518 yes no Frequency 1 0.000000 0 0.000139 0.000000 0.000042 0.000248 0.000101 0.000266 0.000100 0.000000 0.000831 0.000266 18 0 1 2 1 6 5 0 3 129638 6222 23746 8062 9920 22534 50088 5456 3610 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 0 1 2 1 6 5 0 3 0 0 0 0 0 0 0 0 0 RF 71 Exomes transition G A G>A 0.043 -1.167 242 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.G125A:p.R42K . . . 0.2857143 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R322K|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.6552 . . . . . . . . 3.890e-04 . . . 0 0.0006 0 0 0 0.0006 0 0.0007 0 0.0006 0 0 0 0.0008 0 0.0007 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377477518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 4.211e-05 0.0002 0.0001 0 9.982e-05 0.0008 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . rs377477518 rs377477518 1 1538 10 1/0 0,255,255 +rs191924691 9 141069289 T C - TUBBP5 23674 Tubulin, beta pseudogene 5 NR_027156.1 1 2660 0 substitution exon GRCh37 141069289 141069289 Chr9(GRCh37):g.141069289T>C 988 988 NR_027156.1:n.988T>C 2 -36 5' 85.557 8.56441 0.843269 6.85146 85.557 8.56441 0.843269 7.30702 0 rs191924691 yes no Frequency 1 0.000000 0 0.001735 0.015199 0.000166 0.000122 0.000174 0.000404 0.000792 0.002295 0.001136 0.015199 267 176 4 1 2 9 50 20 5 153934 11580 24120 8174 11520 22280 63142 8716 4402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 267 176 4 1 2 9 50 20 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -1.247 241 PASS . . . . . . . . . . . . TUBBP5:uc010ncq.3:exon2:c.T148C:p.F50L . . . 0.2857143 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Ctc|F330L|TUBBP5|Non-coding_transcript|NON_CODING|NR_027156|NR_027156.ex.2) . . . . . . . -0.6802 . . . . . . . . 1.468e-03 . . . 0.0035 0.0021 0.0052 0 0 0.0027 0 0.0016 0 0.0017 0 0 0 0.0023 0 0.0016 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.1 182 ENSG00000159247 TUBBP5 TUBBP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191924691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 4.268e-05 0.0001 0.0001 0.0002 0.0003 0.0011 0.0004 0.0325 0.0094 0.0043 0 0.0006 0.0065 0.0027 0.0012 . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . rs76123159 rs191924691 1 1538 10 1/0 0,255,255 +. (chr9:141111399 A/T) 9 141111399 A T Not on a known gene +rs200438923 10 95196 G A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95196 95196 Chr10(GRCh37):g.95196G>A -18 -18 NM_177987.2:c.-18C>T p.? p.? 1 616768 -75 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.50308 0 rs200438923 yes no Frequency 1 G 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000025 0.000000 0.000000 0.000025 2 0 0 0 0 0 2 0 0 188862 10592 27790 8786 13236 25404 80678 17904 4472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 54 Exomes transition C T C>T 0.016 0.205 207 PASS . . . . . . . . . . . . . . . . 0.17948718 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.4331 . . . . . . . . 7.986e-06 . . . 0 3.17e-05 0 0 0 6.823e-05 0 0 0 3.224e-05 0 0 0 7.281e-05 0 0 . . . . . . UTR5 upstream upstream . . . @ . . . 0.51 0.33 182 ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.059e-05 0 0 0 0 2.479e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs200438923 rs200438923 1 1538 10 1/0 0,244,255 +rs116058315 10 95197 A G - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95197 95197 Chr10(GRCh37):g.95197A>G -19 -19 NM_177987.2:c.-19T>C p.? p.? 1 616768 -76 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.78878 0 rs116058315 yes no Frequency/1000G 2 A 0.000000 0 0.002001 0.001009 0.002616 0.004622 0.000069 0.001194 0.002387 0.000861 0.004682 0.004622 431 19 73 41 1 30 224 18 25 215348 18832 27908 8870 14522 25122 93850 20904 5340 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000021 0.000000 0.000000 1 0 0 0 0 0 1 0 0 429 19 73 41 1 30 222 18 25 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.016 0.448 207 PASS . . . . . . . . . . . . . . . . 0.17721519 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.7345 . . . . . . . . 1.294e-03 . . . 0.0037 0.0034 0.0041 0.0022 0.0087 0.0039 0 0.0025 0.0037 0.0033 0.0034 0.0043 0.0029 0.0036 0.0045 0.0025 . . . . . . UTR5 upstream upstream . . . @ . . . 0.44 0.31 182 ENSG00000173876 TUBB8 TUBB8 . . . . . . 94 0.00144669 64976 90 0.00150035 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0018 0.0026 0.0044 7.74e-05 0.0007 0.0020 0.0048 0.0012 0.0009 0.0029 0.0037 0.01 0 0.0015 0.0045 0.0042 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs116058315 rs116058315 1 1538 10 1/0 0,243,255 +rs558290342 10 95212 T C - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95212 95212 Chr10(GRCh37):g.95212T>C -34 -34 NM_177987.2:c.-34A>G p.? p.? 1 616768 -91 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs558290342 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.000800 0.004100 0.000000 0.004000 0.002900 0.001788 0.000544 0.002174 0.004208 0.000143 0.001221 0.002231 0.000730 0.003792 0.004208 371 10 59 37 2 30 198 15 20 207472 18386 27140 8792 13974 24580 88764 20562 5274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 371 10 59 37 2 30 198 15 20 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.086 218 PASS . . . . . 0.0008 0.0022 0.0029 . 0.004 0.0041 . . . . . 0.20779221 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 77.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.6728 . . . . . . . . 4.841e-04 . . . 0.0003 0.0011 0.0005 0 0 0.0017 0 0.0008 0 0.0007 0.0006 0 0.0007 0.0008 0 0.0008 . . . . . . UTR5 upstream upstream . . . 0.0022 . . . . . . ENSG00000173876 TUBB8 TUBB8 ENST00000309812:c.-34A>G . . . . . 93 0.0014313 64976 90 0.00150035 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0016 0.0021 0.0040 0.0002 0.0005 0.0018 0.0037 0.0012 0.0006 0.0029 0.0036 0.0099 0 0.0021 0.0045 0.0041 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 10 95215 G A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95215 95215 Chr10(GRCh37):g.95215G>A -37 -37 NM_177987.2:c.-37C>T p.? p.? 1 616768 -94 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 175864 9646 26254 8560 12256 24506 73196 17150 4296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 54 Exomes transition C T C>T 0.000 1.013 176 PASS . . . . . . . . . . . . . . . . 0.10465116 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 86.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 ENST00000309812:c.-37C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +. 10 95232 G T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95232 95232 Chr10(GRCh37):g.95232G>T -54 -54 NM_177987.2:c.-54C>A p.? p.? 1 616768 -111 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transversion C A C>A 0.000 -1.328 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.5422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 ENST00000309812:c.-54C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs186208482 10 95237 G T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95237 95237 Chr10(GRCh37):g.95237G>T -59 -59 NM_177987.2:c.-59C>A p.? p.? 1 616768 -116 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs186208482 no no 0 G 0.000000 0 0.000033 0.000116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000116 1 1 0 0 0 0 0 0 0 30468 8612 820 302 1590 0 14792 3384 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion C A C>A 0.024 0.770 237 PASS . . . . . . . . . . . . . . . . 0.2658228 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . @ . . . 0.57 0.4 182 ENSG00000173876 TUBB8 TUBB8 ENST00000309812:c.-59C>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.282e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.022 . . rs186208482 rs186208482 1 1538 10 1/0 0,251,255 +. 10 95244 C T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95244 95244 Chr10(GRCh37):g.95244C>T -66 -66 NM_177987.2:c.-66G>A p.? p.? 1 616768 -123 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transition G A G>A 0.307 -0.117 196 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 80.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs797032475 10 95247 G A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95247 95247 Chr10(GRCh37):g.95247G>A -69 -69 NM_177987.2:c.-69C>T p.? p.? 1 616768 -126 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 Cryptic Donor Strongly Activated 95249 58.8118 IV.63 0.005432 70.511 rs797032475 no no 0 G 0.000000 0 transition C T C>T 0.425 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14084508 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 71.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.4519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs797035342 10 95249 C A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95249 95249 Chr10(GRCh37):g.95249C>A -71 -71 NM_177987.2:c.-71G>T p.? p.? 1 616768 -128 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs797035342 no no 0 C 0.000000 0 transversion G T G>T 0.551 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs797027426 10 95254 G A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95254 95254 Chr10(GRCh37):g.95254G>A -76 -76 NM_177987.2:c.-76C>T p.? p.? 1 616768 -133 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs797027426 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30520 8624 828 302 1596 0 14836 3372 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition C T C>T 0.787 1.093 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.4019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . 0.022 . . . . 1 1538 10 1/0 0,242,255 +rs797030319 10 95258 A C - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95258 95258 Chr10(GRCh37):g.95258A>C -80 -80 NM_177987.2:c.-80T>G p.? p.? 1 616768 -137 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs797030319 no no 0 A 0.000000 0 transversion T G T>G 0.780 0.851 178 PASS . . . . . . . . . . . . . . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,240,255 +rs797043957 10 95263 T G - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95263 95263 Chr10(GRCh37):g.95263T>G -85 -85 NM_177987.2:c.-85A>C p.? p.? 1 616768 -142 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs797043957 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30468 8598 830 302 1592 0 14794 3388 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes transversion A C A>C 0.346 -1.409 239 PASS . . . . . . . . . . . . . . . . 0.27272728 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 77.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.7583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. 10 95269 G T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95269 95269 Chr10(GRCh37):g.95269G>T -91 -91 NM_177987.2:c.-91C>A p.? p.? 1 616768 -148 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transversion C A C>A 0.409 1.093 206 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +. 10 95273 C T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95273 95273 Chr10(GRCh37):g.95273C>T -95 -95 NM_177987.2:c.-95G>A p.? p.? 1 616768 -152 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transition G A G>A 0.504 1.093 112 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-112 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 10 95274 G T - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95274 95274 Chr10(GRCh37):g.95274G>T -96 -96 NM_177987.2:c.-96C>A p.? p.? 1 616768 -153 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 transversion C A C>A 0.512 -0.117 197 PASS . . . . . . . . . . . . . . . . 0.15277778 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.3435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs74113794 10 95289 C A - TUBB8 20773 Tubulin, beta 8 class VIII NM_177987.2 -1 1504 1335 NP_817124.1 Q3ZCM7 substitution upstream GRCh37 95289 95289 Chr10(GRCh37):g.95289C>A -111 -111 NM_177987.2:c.-111G>T p.? p.? 1 616768 -168 5' 73.9585 6.10185 0.550031 9.35448 73.9585 6.10185 0.550031 9.35448 0 rs74113794 no no 0 T 0.000000 0 0.000297 0.000816 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000816 9 7 0 0 0 0 2 0 0 30314 8580 824 302 1592 0 14824 3234 958 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 7 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion G T G>T 0.598 -1.651 241 PASS . . . . . . . . . . . . . . . . 0.27868852 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 61.0 . . UPSTREAM(MODIFIER||||TUBB8|mRNA|CODING|NM_177987|) . . . . . . . -0.8514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . 0.6 0.4 182 ENSG00000173876 TUBB8 TUBB8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0003 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . rs74113794 rs74113794 rs74113794 1 1538 10 1/0 0,255,255 +. 10 332385 AAG A - DIP2C 29150 DIP2 disco-interacting protein 2 homolog C (Drosophila) NM_014974.2 -1 7896 4671 NP_055789.1 Q9Y2E4 deletion intron GRCh37 332386 332387 Chr10(GRCh37):g.332386_332387del 4045-100 4045-99 NM_014974.2:c.4045-100_4045-99del p.? p.? 34 33 611380 -99 3' 71.8721 9.0645 0.908939 6.95935 71.8721 9.0645 0.908939 6.95935 0 Cryptic Acceptor Weakly Activated 332388 VII.67 0.062637 81.0172 7.87798 0.32228 81.0172 rs540060840 yes no Frequency/1000G 2 0.000000 0 0.007987 0.000800 0.022500 0.000000 0.006000 0.015900 0.006811 0.002635 0.005967 0.000000 0.000000 0.000000 0.009924 0.006014 0.013238 0.009924 211 23 5 0 0 0 149 21 13 30980 8730 838 302 1622 0 15014 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 211 23 5 0 0 0 149 21 13 0 0 0 0 0 0 0 0 0 PASS 42 Genomes CT 255 Pass . . . . . 0.0008 0.008 0.016 . 0.006 0.022 . . . . . 0.65625 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000151240 DIP2C DIP2C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35865276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0068 0.0060 0 0 0.0060 0.0099 0.0132 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,18 +rs147132395 10 1088647 C G - IDI1 5387 Isopentenyl-diphosphate delta isomerase 1 NM_004508.3 -1 2986 855 NP_004499.2 substitution missense exon GRCh37 1088647 1088647 Chr10(GRCh37):g.1088647C>G 462 462 NM_004508.3:c.462G>C p.Glu154Asp p.Glu154Asp 4 604055 56 3' 91.2413 8.12059 0.95947 5.74184 91.2413 8.12059 0.95947 6.36713 0 Isopentenyl-diphosphate delta-isomerase, type 1 NUDIX hydrolase domain NUDIX hydrolase domain-like rs147132395 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000115 0.000083 0.000203 0.000000 0.000000 0.000000 0.000181 0.000000 0.000000 0.000203 32 2 7 0 0 0 23 0 0 277246 24036 34420 10152 18870 30782 126730 25790 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 2 7 0 0 0 23 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 102 transversion G C G>C 1.000 0.528 E Glu GAG 0.583 D Asp GAC 0.539 154 13 10 Zebrafish 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 114.13 0.00 Tolerated 0.38 3.X 255 PASS . . . . . 0.0008 0.0002 . . . . . . IDI1:NM_004508:exon4:c.G462C:p.E154D . . 0.5813953 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.163 . @ . . . . . 1 0.080 . . 43.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.7685 -0.749 -0.769 c . . . . . 9.471e-05 . . . 9.628e-05 0.0001 8.646e-05 0 0 0.0002 0 0 0.0001 0.0001 8.916e-05 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.105 . . exonic exonic exonic . . 0.107 0.0002 . . . 0.3 0.14 182 ENSG00000067064 IDI1 IDI1 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.165 0.006 . . 37 . 0.064 . . 0.379 . . . 0.410 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.491 . . 0 0 0 0 0 0 . 0.202 . . 0.223 . . . . . . 4 0.248 . . . . . 0.144 . 0.291 . HET 0.11 rs147132395 . . . . . . . . . . . . 5.1804 0.0 . 4.V -0.691 . 0.420000 Q13907-2 . . . 0.000077 . 0.417 . . . 6.534e-05 0.0001 0.0002 0 0 0 0.0002 0 0 0.0001 6.457e-05 0 0 0 0 6.662e-05 0 . . 0.522 . -0.079 -0.079000 . . 0.420000 . . 1.0E-255 1.000 0.715 . 0.151 0.037 . 0.282 . 0.131 -0.079 -0.379 0.0001 . . rs147132395 rs147132395 1 1538 10 1/0 0,255,255 +rs147132395 10 1088647 C G - IDI2-AS1 30885 IDI2 antisense RNA 1 NR_027709.1 1 1305 0 substitution intron GRCh37 1088647 1088647 Chr10(GRCh37):g.1088647C>G 633-822 633-822 NR_027709.1:n.633-822C>G p.? p.? 5 4 615391 -822 3' 61.7765 2.93706 0.008619 0 61.7765 2.93706 0.008619 0 0 rs147132395 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000115 0.000083 0.000203 0.000000 0.000000 0.000000 0.000181 0.000000 0.000000 0.000203 32 2 7 0 0 0 23 0 0 277246 24036 34420 10152 18870 30782 126730 25790 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 2 7 0 0 0 23 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 102 transversion C G C>G 1.000 0.528 255 PASS . . . . . 0.0008 0.0002 . . . . . . IDI1:NM_004508:exon4:c.G462C:p.E154D . . 0.5813953 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.163 . @ . . . . . 1 0.080 . . 43.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.7685 -0.749 -0.769 c . . . . . 9.471e-05 . . . 9.628e-05 0.0001 8.646e-05 0 0 0.0002 0 0 0.0001 0.0001 8.916e-05 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.105 . . exonic exonic exonic . . 0.107 0.0002 . . . 0.3 0.14 182 ENSG00000067064 IDI1 IDI1 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.165 0.006 . . 37 . 0.064 . . 0.379 . . . 0.410 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.491 . . 0 0 0 0 0 0 . 0.202 . . 0.223 . . . . . . 4 0.248 . . . . . 0.144 . 0.291 . HET 0.11 rs147132395 . . . . . . . . . . . . 5.1804 0.0 . 4.V -0.691 . 0.420000 Q13907-2 . . . 0.000077 . 0.417 . . . 6.534e-05 0.0001 0.0002 0 0 0 0.0002 0 0 0.0001 6.457e-05 0 0 0 0 6.662e-05 0 . . 0.522 . -0.079 -0.079000 . . 0.420000 . . 1.0E-255 1.000 0.715 . 0.151 0.037 . 0.282 . 0.131 -0.079 -0.379 0.0001 . . rs147132395 rs147132395 1 1538 10 1/0 0,255,255 +. 10 4877825 TTTTG T - AKR1E2 23437 Aldo-keto reductase family 1, member E2 NM_001040177.2 1 1643 963 NP_001035267.1 Q96JD6 deletion intron GRCh37 4877829 4877832 Chr10(GRCh37):g.4877829_4877832del 325-38 325-35 NM_001040177.2:c.325-38_325-35del p.? p.? 4 3 617451 -35 3' 83.8865 8.41044 0.967117 XI.51 83.8865 8.41044 0.967117 X.65 0 rs558981280 no no 0 0.000000 0 7936 4221 12157 318 43 361 0.0385268 0.0100844 0.0288385 0.0385268 0.0100844 0.0288385 34 GTTT 255 Pass . . . . . . . . . . . . . . . . 0.39583334 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . 0.01 0.029 0.039 0.01 0.029 0.038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000165568 AKR1E2 AKR1E2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs558981280 . . . . . . . . . . . . . . . . . . . . . . . 0.028994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.039 . . . . 1 1538 10 1.I 0,12,40 +rs75589167 10 4877834 G T - AKR1E2 23437 Aldo-keto reductase family 1, member E2 NM_001040177.2 1 1643 963 NP_001035267.1 Q96JD6 substitution intron GRCh37 4877834 4877834 Chr10(GRCh37):g.4877834G>T 325-33 325-33 NM_001040177.2:c.325-33G>T p.? p.? 4 3 617451 -33 3' 83.8865 8.41044 0.967117 XI.51 83.8865 8.41044 0.967117 11.1567 0 rs75589167 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.005300 0.000000 0.000000 0.000000 0.000000 0.000553 0.001230 0.000190 0.000208 0.001619 0.000104 0.000597 0.000167 0.000498 0.001619 141 29 6 2 25 3 69 4 3 254798 23568 31648 9636 15442 28960 115496 24020 6028 0.000016 0.000000 0.000000 0.000000 0.000259 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 137 29 6 2 21 3 69 4 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 -1.732 255 PASS . . . . . 0.0053 0.0014 . . . . . . . . . 0.47826087 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.7937 . . . . . . . . 6.178e-04 . . . 0.0014 0.0006 0.0002 0.0019 0.0003 0.0005 0.0017 0.0001 0.0012 0.0006 0.0002 0.0027 0.0002 0.0004 0.0017 0.0001 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.17 0.08 182 ENSG00000165568 AKR1E2 AKR1E2 . . . . . . 15 0.000230854 64976 1 1.66706e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75589167 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0006 0.0002 0.0002 0.0017 0.0002 0.0007 0.0006 0.0001 0.0013 0.0004 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs75589167 rs75589167 1 1538 10 1/0 0,255,255 +rs199597549 10 5034002 A T - AKR1C2 385 Aldo-keto reductase family 1, member C2 NM_001354.5 -1 3606 972 NP_001345.1 P52895 substitution intron GRCh37 5034002 5034002 Chr10(GRCh37):g.5034002A>T 929+21 929+21 NM_001354.5:c.929+21T>A p.? p.? 10 10 600450 21 5' 83.257 6.69345 0.809496 1.88107 83.257 6.69345 0.809496 1.74279 0 rs199597549 yes no Frequency/1000G 2 0.000000 0 0.004901 0.008057 0.002236 0.006239 0.001240 0.002058 0.007204 0.001214 0.003846 0.008057 299 69 17 7 9 10 173 7 7 61008 8564 7604 1122 7258 4860 24016 5764 1820 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 299 69 17 7 9 10 173 7 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 -5.121 254 PASS 0.2 0.15 0.13 0.09 0.18 . . . . . . . . . . . 0.32142857 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -1.2030 . . . . . . . . 1.288e-03 . . . 0 0.0024 0 0 0 0.0036 0 0 0 0 0 0 0 0 . 0 . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.19 182 ENSG00000151632 . AKR1C2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0030 0.0018 0.0064 0.0009 0.0007 0.0050 0.0042 0.0021 0.0141 0.0094 0.0072 0.0056 0.0033 0.0017 0.0110 0.0032 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.2 rs5001363 rs5001363 rs5001363 rs199597549 1 1538 10 1/0 0,255,255 +rs34515072 10 5041580 C T - AKR1C2 385 Aldo-keto reductase family 1, member C2 NM_001354.5 -1 3606 972 NP_001345.1 P52895 substitution intron GRCh37 5041580 5041580 Chr10(GRCh37):g.5041580C>T 370-111 370-111 NM_001354.5:c.370-111G>A p.? p.? 6 5 600450 -111 3' 85.5206 5.16096 0.368241 4.98544 85.5206 5.16096 0.368241 4.98544 0 rs34515072 no no 0 T 0.000000 0 0.001083 0.001410 0.001279 0.003497 0.000621 0.000000 0.001006 0.000302 0.002188 0.003497 31 11 1 1 1 0 14 1 2 28612 7800 782 286 1610 0 13910 3310 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 11 1 1 1 0 14 1 2 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition G A G>A 0.000 -1.328 212 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.4351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.2 182 ENSG00000151632 . AKR1C2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0011 0.0013 0.0035 0.0006 0.0003 0.0010 0.0022 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs34515072 rs34515072 rs34515072 rs34515072 1 1538 10 1/0 0,245,255 +rs116968256 10 6538964 C T - PRKCQ 9410 Protein kinase C theta NM_001323265.1 -1 3340 2121 NP_001310194.1 Q04759 substitution intron GRCh37 6538964 6538964 Chr10(GRCh37):g.6538964C>T 660+33 660+33 NM_001323265.1:c.660+33G>A p.? p.? 7 7 600448 33 5' 86.8199 10.1256 0.989412 4.38646 86.8199 10.1256 0.989412 4.25411 0 Cryptic Donor Strongly Activated 6538967 0.000799 59.1399 0.623344 0.012632 63.5023 rs116968256 yes no Frequency/1000G 2 0.000000 0 0.002596 0.000000 0.007200 0.000000 0.004000 0.002900 0.004881 0.000793 0.001050 0.016637 0.000159 0.012665 0.005135 0.002369 0.004355 0.016637 1341 19 36 168 3 384 642 61 28 274722 23962 34290 10098 18836 30320 125036 25750 6430 0.000051 0.000000 0.000000 0.000396 0.000000 0.000330 0.000000 0.000000 0.000000 7 0 0 2 0 5 0 0 0 1327 19 36 164 3 374 642 61 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8547 4404 12951 53 2 55 0.00616279 0.000453926 0.00422882 0.00616279 0.000453926 0.00422882 134 transition G A G>A 0.000 -0.602 255 PASS . 0.0027 0.01 . 0.01 . 0.0026 0.0029 . 0.004 0.0072 . . . . . 0.51898736 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . 0.0005 0.0042 0.0062 0.0005 0.0042 0.0062 . -0.2480 . . . . . . . . 5.549e-03 . . . 0.0008 0.0059 0.0013 0.0002 0.0016 0.0064 0.0042 0.0138 0.0007 0.0057 0.0013 0.0003 0.0015 0.0063 0.0014 0.0138 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.35 0.23 182 ENSG00000065675 PRKCQ PRKCQ . . . . . . 233 0.00358594 64976 220 0.00366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116968256 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004229 . . . . . 0.0007 0.0051 0.0011 0.0164 0.0002 0.0025 0.0052 0.0046 0.0127 0.0009 0.0032 0 0.0232 0 0.0014 0.0050 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs116968256 rs116968256 1 1538 10 1/0 0,255,255 +rs36056263 10 7621875 T G - ITIH5 21449 Inter-alpha-trypsin inhibitor heavy chain family, member 5 NM_001001851.2 -1 3132 2109 NP_001001851.1 substitution missense exon GRCh37 7621875 7621875 Chr10(GRCh37):g.7621875T>G 1261 1261 NM_001001851.2:c.1261A>C p.Asn421His p.Asn421His 9 609783 153 3' 88.7023 9.73839 0.799788 6.41996 88.7023 9.73839 0.799788 6.41996 0 von Willebrand factor, type A rs36056263 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000000 0.001000 0.000000 0.011900 0.005800 0.005847 0.001040 0.001685 0.005615 0.000000 0.001234 0.010014 0.004808 0.007733 0.010014 1621 25 58 57 0 38 1269 124 50 277232 24032 34420 10152 18870 30782 126718 25792 6466 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000126 0.000000 0.000000 8 0 0 0 0 0 8 0 0 1605 25 58 57 0 38 1253 124 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8515 4402 12917 85 4 89 0.00988372 0.000907853 0.006843 0.00988372 0.000907853 0.006843 131 transversion A C A>C 1.000 2.142 N Asn AAC 0.536 H His CAC 0.587 421 12 7 Platypus 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 82.67 41.99 Tolerated 0.1 III.34 bad 5.508E-3 0.06292 252 PASS . 0.01 0.01 . 0.01 . 0.0034 0.0058 . 0.012 0.001 . . . . . 0.312 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.321 . @ . . . . . 1 0.704 . . 125.0 . . . 0.0009 0.0068 0.0099 0.0009 0.0068 0.0099 . 0.2096 0.255 0.210 c . . . . . 5.896e-03 . . . 0.0011 0.0052 0.0018 0 0.0050 0.0094 0.0070 0.0012 0.0011 0.0053 0.0019 0 0.0050 0.0087 0.0043 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.835 . . exonic exonic exonic . . 0.640 0.0034 . . . 0.36 0.5 182 ENSG00000123243 ITIH5 ITIH5 . . . 0.999 0.373 . 393 0.00604839 64976 376 0.00626813 59986 Uncertain_significance . 0 . 0.559 . . . . . . . . . 37 . 0.757 . . 0.727 . . . . 0.239 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.431 . . 0 0 0 0 0 0 . 0.537 . . 0.485 . . . . . . 0 0.309 . . . . . 0.360 . 0.114 . HET 0.05 rs36056263 . . . . . . . 0.005952380952380952 0.0 0.0055248618784530384 0.0 0.014511873350923483 9.1641 8.03E-4 . IV.92 IV.92 . 0.050000 . . . . 0.006843 . 0.505 . . IV.92 0.0012 0.0055 0.0017 0.0058 0 0.0049 0.0094 0.0064 0.0012 0.0008 0.0083 0 0 0 0.0040 0.0147 0.0153 . . 0.609 . 1.848 1.848000 . . 0.050000 . . 1.0000000000000001E-252 1.000 0.715 . 0.604 0.964 . 0.424 . 0.762 1.848 0.938 0.01 rs36056263 rs36056263 rs36056263 rs36056263 1 1538 10 1/0 0,238,255 +rs12413124 10 7627805 C A - ITIH5 21449 Inter-alpha-trypsin inhibitor heavy chain family, member 5 NM_001001851.2 -1 3132 2109 NP_001001851.1 substitution intron GRCh37 7627805 7627805 Chr10(GRCh37):g.7627805C>A 1108+59 1108+59 NM_001001851.2:c.1108+59G>T p.? p.? 8 8 609783 59 5' 79.775 8.26664 0.878144 2.50912 79.775 8.26664 0.878144 2.47931 0 rs12413124 yes no Frequency/1000G 2 0.000000 0 0.003501 0.002795 0.011194 0.000000 0.014793 0.000000 0.002419 0.005764 0.011050 0.014793 41 8 3 0 5 0 17 4 4 11712 2862 268 160 338 0 7028 694 362 0.024390 0.000000 0.000000 0.000000 0.000000 0.000000 0.058824 0.000000 0.000000 1 0 0 0 0 0 1 0 0 39 8 3 0 5 0 15 4 4 0 0 0 0 0 0 0 0 0 RF 93 Genomes transversion G T G>T 0.047 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.47 182 ENSG00000123243 ITIH5 ITIH5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12413124 0.141 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0035 0.0112 0 0.0148 0.0058 0.0024 0.0110 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs12413124 rs12413124 rs12413124 rs12413124 1 1538 10 1/0 0,255,255 +rs62640925 10 13653615 G A - PRPF18 17351 PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) NM_003675.3 1 1705 1029 NP_003666.1 Q99633 substitution missense exon GRCh37 13653615 13653615 Chr10(GRCh37):g.13653615G>A 511 511 NM_003675.3:c.511G>A p.Ala171Thr p.Ala171Thr 6 604993 1 3' 98.4473 IX.09 0.983994 8.54182 94.5364 8.85195 0.975486 8.14285 -0.0421269 rs62640925 yes no Frequency/1000G 2 G 0.000000 0 0.006789 0.000800 0.011200 0.000000 0.015900 0.008600 0.008943 0.001583 0.010258 0.016578 0.000000 0.011275 0.010050 0.008617 0.011975 0.016578 2473 38 351 168 0 346 1271 222 77 276542 24004 34218 10134 18838 30688 126466 25764 6430 0.000159 0.000000 0.000175 0.000197 0.000000 0.000261 0.000206 0.000000 0.000311 22 0 3 1 0 4 13 0 1 2429 38 345 166 0 338 1245 222 75 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4399 12904 95 7 102 0.0110465 0.00158874 0.00784253 0.0110465 0.00158874 0.00784253 110 transition G A G>A 1.000 1.900 A Ala GCG 0.107 T Thr ACG 0.116 171 13 10 Tetraodon 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 97.88 0.00 Tolerated 0.84 III.15 good 2.803E-1 0.2759 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.0068 0.0086 . 0.016 0.011 . PRPF18:uc001imp.3:exon6:c.G511A:p.A171T PRPF18:NM_003675:exon6:c.G511A:p.A171T . . 0.45652175 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.233 . @ . . . . . 1 0.157 . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A171T|PRPF18|mRNA|CODING|NM_003675|NM_003675.ex.6) 0.0016 0.0078 0.011 0.0016 0.0078 0.011 . -0.3474 -0.273 -0.347 c . . . . . 8.216e-03 . . . 0.0020 0.0086 0.0078 0 0.0100 0.0102 0.0098 0.0115 0.0022 0.0083 0.0075 0 0.0091 0.0096 0.0115 0.0114 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.305 0.0068 . . . 0.33 0.25 182 . PRPF18 PRPF18 . . . 1.000 0.402 . 660 0.0101576 64976 627 0.0104524 59986 Uncertain_significance . 0 . 0.491 . . . . . . . . . 37 . 0.372 . . 0.175 . . . 0.389 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.069 . . 0 0 0 0 0 0 . 0.135 . . 0.104 . . . . . . 0 0.067 . . . . . 0.436 . 0.107 . HET 0.37 rs62640925 . 0.014 . . . . . 0.005494505494505495 0.0020325203252032522 0.011049723756906077 0.0 0.009234828496042216 X.31 0.001873 . 5.V II.66 . . Q99633 0.0010 0.142 . 0.007843 . 0.511 . . II.66 0.0018 0.0090 0.0104 0.0167 0 0.0087 0.0097 0.0115 0.0113 0.0011 0.0082 0.0060 0.0132 0 0.0080 0.0129 0.0144 . . 0.609 . 0.294 0.294000 . . . . . 1.0E-255 1.000 0.715 . 0.169 0.790 . 0.645 . 0.201 0.294 0.917 0.011 rs62640925 rs62640925 rs62640925 rs62640925 1 1538 10 1/0 0,255,255 +rs3837313 10 16737166 G A - RSU1 10464 Ras suppressor protein 1 NM_012425.3 -1 3755 834 NP_036557.1 Q15404 substitution intron GRCh37 16737166 16737166 Chr10(GRCh37):g.16737166G>A 599-12 599-12 NM_012425.3:c.599-12C>T p.? p.? 8 7 179555 -12 3' 82.8051 XII.92 0.990324 XI.38 86.0921 XII.92 0.992004 XI.66 0.0220911 rs3837313 yes no Frequency/1000G 2 A 0.000000 0 0.451677 0.540100 0.359900 0.476200 0.412500 0.433700 transition C T C>T 0.000 0.125 255 PASS . . . . . 0.54 0.45 0.43 0.48 0.41 0.36 . . . . . 0.78571427 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . 0.2387 . . . . . . . . . . . . 0.4386 0.3795 0.3834 0.4061 0.3114 0.3853 0.3792 0.3371 0.4409 0.3777 0.3842 0.4040 0.3326 0.3814 0.3829 0.3364 . . . . . . intronic intronic intronic . . . 0.4517 . . . 0.32 0.38 182 ENSG00000148484 RSU1 RSU1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs3837313 0.033 0.029 . . . . . . . . . . . . . . . . . . 0 0 . . . . . . II.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs3837313 . 1 1538 10 1/0 0,255,255 +rs2796835 10 16943371 G C - CUBN 2548 Cubilin (intrinsic factor-cobalamin receptor) NM_001081.3 -1 11933 10872 NP_001072.2 O60494 substitution missense exon GRCh37 16943371 16943371 Chr10(GRCh37):g.16943371G>C 8150 8150 NM_001081.3:c.8150C>G p.Ser2717Trp p.Ser2717Trp 52 602997 -35 5' 73.8017 7.93713 0.945084 4.48116 73.8017 7.93713 0.945084 3.94066 0 CUB rs2796835 yes no Frequency/HapMap/1000G 3 C benign 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999993 0.999917 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 277202 24036 34418 10152 18870 30782 126682 25794 6468 277204 24038 34418 10152 18870 30782 126682 25794 6468 0.999986 0.999834 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 138600 12017 17209 5076 9435 15391 63341 12897 3234 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 1 1 8600 4405 13005 0 0.000226963 7.68876e-05 1 0.999773 0.999923 139 RCV000383109.1 germline clinical testing Benign 1 Megaloblastic anemia transversion C G C>G 1.000 3.918 S Ser TCG 0.056 W Trp TGG 1.000 2717 10 1 -4 -3 -6 I.42 0.13 9.II 5.IV 32 170 177 C0 176.58 0.00 Tolerated 1 III.96 good 9.999E-1 7.352E-5 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. ENSG00000107611:ENST00000377833:exon52:c.C8150G:p.S2717W . CUBN:NM_001081:exon52:c.C8150G:p.S2717W . . 1.0 . . germline 82 . . 1.2.2016 1 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.365 . Benign Benign RCV000383109.1 Megaloblastic_anemia Human_Phenotype_Ontology:MedGen HP:0001889:CN001708 1 0.135 . . 82.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S2717W|CUBN|mRNA|CODING|NM_001081|NM_001081.ex.52) 1. 1. 1. 1. 1. 1. . -0.9781 -0.579 -0.978 c . . . . . 1.000 . . . 0.9998 1.0000 1 1 1 1 1 1 0.9998 1.0000 1 1 1 1 1 1 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.087 . . exonic exonic exonic . . 0.893 0.0000 . . . 0.63 0.47 182 ENSG00000107611 CUBN CUBN . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.422 . . . . . . . . . 37 . 0.000 . . 0.477 . . . 0.000 0.411 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 1 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.870 . 0.097 . HOM 1 rs2796835 1.000 1.000 . . . . . 1.0 1.0 1.0 1.0 1.0 17.3136 0.999732 ENST00000377833 V.72 V.72 . 1.000000 O60494 . . . 0.999923 . 0.002 . . V.72 0.9999 1.0000 1 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . 0.283 . 1.564 1.564000 . . 1.000000 . . 1.0E-111 1.000 0.715 . 0.167 0.605 . 0.641 . 0.169 1.564 0.005 1. rs2796835 rs2796835 rs2796835 rs2796835 1 1538 255 1.I 0,0,255 +rs369156076 10 17275747 C T - VIM 12692 Vimentin NM_003380.4 1 2189 1401 NP_003371.2 P08670 substitution intron GRCh37 17275747 17275747 Chr10(GRCh37):g.17275747C>T 721-22 721-22 NM_003380.4:c.721-22C>T p.? p.? 5 4 193060 -22 3' 98.469 13.0726 0.992592 13.1964 98.469 13.0726 0.992592 14.0435 0 rs369156076 yes no Frequency 1 C 0.000000 0 0.000115 0.000083 0.000058 0.000000 0.000000 0.000000 0.000221 0.000000 0.000000 0.000221 32 2 2 0 0 0 28 0 0 277238 24040 34418 10152 18870 30782 126718 25794 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 2 2 0 0 0 28 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 67 transition C T C>T 0.189 2.142 255 PASS . . . . . . . . . . . . . . . . 0.5132743 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . I.45 . . . . . . . . 9.471e-05 . . . 0 4.409e-05 8.651e-05 0.0002 0 4.748e-05 0 0 0 9.417e-05 8.919e-05 0 0 0.0002 0 0 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.46 0.37 182 ENSG00000234961 VIM VIM . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369156076 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . IV.74 6.534e-05 0.0001 5.956e-05 0 0 0 0.0002 0 0 0.0001 6.455e-05 0 0 0 0 6.663e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs369156076 . 1 1538 10 1/0 0,255,255 +rs368516333 10 22022383 A G - MLLT10 16063 "Myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10" NM_001195626.1 1 4854 3207 NP_001182555.1 P55197 substitution intron GRCh37 22022383 22022383 Chr10(GRCh37):g.22022383A>G 2408-50 2408-50 NM_001195626.1:c.2408-50A>G p.? p.? 18 17 602409 -50 3' 87.2224 9.04876 0.908733 V.33 87.2224 9.04876 0.908733 5.53295 0 New Acceptor Site 22022384 5.34416 0.005648 66.5437 22022383 -68.6283 rs368516333 yes no Frequency 1 A 0.000000 0 0.000476 0.000064 0.000000 0.000409 0.000000 0.000000 0.000783 0.000656 0.000000 0.000783 50 1 0 1 0 0 39 9 0 105032 15680 6894 2446 8316 5510 49798 13726 2662 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 50 1 0 1 0 0 39 9 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8365 4304 12669 3 0 3 0.000358509 0 0.000236742 0.000358509 0 0.000236742 29 transition A G A>G 0.055 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . 0.0002 0.0004 . 0.0002 0.0004 . 0.2859 . . . . . . . . 2.292e-04 . . . 0 0.0007 0 0 0 0.0013 0 0 0 0.0003 0 0 0.0013 0.0004 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.14 182 ENSG00000078403 MLLT10 MLLT10 . . . . . . 8 0.000123122 64976 8 0.000133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368516333 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv894947 0.000237 . . . . . 0.0001 0.0006 0 0.0005 0 0.0008 0.0009 0 0 0 0.0002 0 0 0 0.0003 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs368516333 . 1 1538 10 1/0 0,255,255 +. 10 22649630 A G - SPAG6 11215 Sperm associated antigen 6 NM_012443.3 1 2619 1530 NP_036575.1 O75602 substitution intron GRCh37 22649630 22649630 Chr10(GRCh37):g.22649630A>G 122-4152 122-4152 NM_012443.3:c.122-4152A>G p.? p.? 3 2 605730 -4152 3' 77.8288 6.15722 0.345141 3.93166 77.8288 6.15722 0.345141 3.93166 0 Cryptic Donor Strongly Activated 22649630 0.000796 56.721 3.91468 0.204849 68.857 transition A G A>G 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.54347825 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.0483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000077327 SPAG6 SPAG6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs35575696 10 26463052 C A - MYO3A 7601 Myosin IIIA NM_017433.4 1 5784 4851 NP_059129.3 Q8NEV4 substitution missense exon GRCh37 26463052 26463052 Chr10(GRCh37):g.26463052C>A 3859 3859 NM_017433.4:c.3859C>A p.Pro1287Thr p.Pro1287Thr 30 606808 -435 5' 89.8263 9.80181 0.994354 2.1398 89.8263 9.80181 0.994354 2.1398 0 rs35575696 yes no Frequency/1000G 2 C benign 0.000000 0 0.003994 0.000000 0.007200 0.000000 0.012900 0.000000 0.009366 0.001583 0.002383 0.016568 0.000106 0.014100 0.010820 0.017177 0.008981 0.017177 2594 38 82 168 2 434 1369 443 58 276960 24002 34414 10140 18856 30780 126520 25790 6458 0.000144 0.000000 0.000000 0.000000 0.000000 0.000585 0.000142 0.000155 0.000000 20 0 0 0 0 9 9 2 0 2554 38 82 168 2 416 1351 439 58 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8505 4398 12903 95 8 103 0.0110465 0.00181571 0.00791942 0.0110465 0.00181571 0.00791942 63 RCV000039037.2 germline clinical testing Benign 1 not specified transversion C A C>A 0.575 0.205 P Pro CCT 0.283 T Thr ACT 0.243 1287 11 8 Chicken -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 228.50 5.VII Tolerated 0.16 III.74 good 3.182E-2 0.006178 255 PASS . 0.01 . . 0.02 . 0.004 . . 0.013 0.0072 ENSG00000095777:ENST00000265944:exon30:c.C3859A:p.P1287T MYO3A:uc001isn.2:exon30:c.C3859A:p.P1287T MYO3A:NM_017433:exon30:c.C3859A:p.P1287T . . 0.41666666 . . germline 20 . . 1.2.2016 0 1 0 0 1 0 1 0 1 1 0 0 . . . . . . 0.148 . Benign Benign RCV000039037.2 not_specified MedGen CN169374 1 0.009 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1287T|MYO3A|mRNA|CODING|NM_017433|NM_017433.ex.30) 0.0018 0.0079 0.011 0.0018 0.0079 0.011 . -0.8230 -0.822 -0.823 c . . . . . 9.913e-03 . . . 0.0017 0.0090 0.0029 0 0.0203 0.0105 0.0099 0.0147 0.0016 0.0099 0.0026 0.0001 0.0204 0.0114 0.0144 0.0146 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.759 . . exonic exonic exonic . . 0.239 0.0040 . . . 0.17 0.13 182 ENSG00000095777 MYO3A MYO3A . . . 0.000 0.029 . 563 0.00866474 64976 543 0.00905211 59986 Benign . 0 . 0.115 . . . . . . . . . 37 . 0.444 . . 0.557 . . . 0.281 0.341 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.258 . . 0 0 0 0 1 0 . 0.163 . . 0.093 . . . . . . 0 0.277 . . . . . 0.396 . 0.012 . HET 0.07 rs35575696 . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000039037.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000039037.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000039037.2\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . 0.005494505494505495 0.0 0.0 0.0 0.0158311345646438 IX.11 0.00214 ENST00000265944 V.33 I.79 . 0.160000 Q8NEV4 . . Name\x3dnsv894975 0.007919 . 0.224 . . . 0.0014 0.0094 0.0024 0.0167 0.0001 0.0174 0.0107 0.0073 0.0141 0.0019 0.0089 0.0036 0.0132 0 0.0160 0.0118 0.0183 . . 0.283 . 0.672 0.672000 . . 0.160000 . . 1.0E-255 0.162 0.236 . 0.498 0.992 . 0.215 . 0.490 0.672 -0.058 0.02 rs35575696 rs35575696 rs35575696 rs35575696 1 1538 10 1/0 0,255,255 +rs200232575 10 26856004 G T - APBB1IP 17379 Amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein NM_019043.3 1 2637 2001 NP_061916.3 Q7Z5R6 substitution missense exon GRCh37 26856004 26856004 Chr10(GRCh37):g.26856004G>T 1588 1588 NM_019043.3:c.1588G>T p.Gly530Cys p.Gly530Cys 15 609036 115 3' 81.2858 7.518 0.054915 6.38307 81.2858 7.518 0.054915 6.38307 0 Cryptic Acceptor Strongly Activated 26856003 0.260603 0.000161 73.3035 0.551076 0.000479 73.3035 rs200232575 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000800 0.000000 0.000000 0.008000 0.001400 0.004745 0.000966 0.001276 0.001131 0.000000 0.003294 0.008023 0.003107 0.005337 0.008023 546 11 16 6 0 56 415 26 16 115064 11392 12536 5306 5738 17002 51724 8368 2998 0.000070 0.000000 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 0.000000 4 0 0 0 0 0 4 0 0 538 11 16 6 0 56 407 26 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4641 2176 6817 27 2 29 0.00578406 0.000918274 0.00423605 0.00578406 0.000918274 0.00423605 4 COSM1739701 Haematopoietic and lymphoid tissue 0.000283 3530 transversion G T G>T 0.000 -2.297 G Gly GGC 0.342 C Cys TGC 0.552 530 12 6 Cow -3 -3 -6 0.74 II.75 9 5.V 3 55 159 C0 209.54 46.44 Tolerated 0.07 III.66 good 5.476E-1 0.0858 233 PASS . . . . . 0.0008 0.002 0.0014 . 0.008 . ENSG00000077420:ENST00000376236:exon15:c.G1588T:p.G530C APBB1IP:uc001iss.3:exon15:c.G1588T:p.G530C APBB1IP:NM_019043:exon15:c.G1588T:p.G530C . . 0.2631579 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.080 . @ . . . . . 1 0.122 . . 19.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Tgc|G530C|APBB1IP|mRNA|CODING|NM_019043|NM_019043.ex.15) 0.0009 0.0042 0.0058 0.0009 0.0042 0.0058 . -1.8232 -1.964 -1.823 c . . . . . 3.379e-03 . . . 0.0021 0.0068 0.0022 0 0.0192 0.0112 0.0061 0.0053 0.0023 0.0066 0.0023 0 0.0084 0.0098 0 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.004 0.0020 . . . 0.44 0.43 182 ENSG00000077420 APBB1IP APBB1IP . . . 1.000 0.747 . 304 0.00467865 64976 294 0.00490114 59986 Likely_benign . 0 . 0.065 . . . . . . . . . 37 . 0.141 . . 0.281 . . . 0.263 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.301 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.176 . . . . . 0.079 . 0.179 . HET 0.1 rs200232575 . . . . . . ID\x3dCOSM1739701\x3bOCCURENCE\x3d1(haematopoietic_and_lymphoid_tissue) . . . . . 3.704 9.67E-4 . IV.94 -9.89 . 0.100000 Q7Z5R6 . . . 0.004236 . 0.083 . . . 0.0006 0.0045 0.0013 0.0012 0 0.0034 0.0073 0.0057 0.0033 0.0011 0.0056 0.0013 0 0 0.0026 0.0099 0.0045 . . 0.924 . -1.746 -1.746000 . . 0.100000 . . 1.0000000000000001E-233 0.000 0.063 . 0.043 0.009 . 0.004 . 0.006 -1.746 -0.035 0.0058 . . rs200232575 rs200232575 1 1538 10 1/0 0,255,255 +rs142646098 10 27688101 G A - PTCHD3 24776 Patched domain containing 3 NM_001034842.3 -1 2528 2304 NP_001030014.2 Q3KNS1 substitution stop gain exon GRCh37 27688101 27688101 Chr10(GRCh37):g.27688101G>A 1426 1426 NM_001034842.3:c.1426C>T p.Arg476* p.Arg476* 4 611791 69 3' 100 13.3689 0.998531 16.4494 100 13.3689 0.998531 16.1886 0 Patched Sterol-sensing domain rs142646098 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.006000 0.001400 0.005170 0.001261 0.000903 0.001482 0.000000 0.001788 0.009240 0.003892 0.004429 0.009240 1402 30 31 15 0 55 1159 84 28 271192 23794 34344 10120 18834 30762 125434 21582 6322 0.000081 0.000000 0.000000 0.000000 0.000000 0.000000 0.000159 0.000093 0.000000 11 0 0 0 0 0 10 1 0 1380 30 31 15 0 55 1139 82 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4401 12927 74 5 79 0.00860465 0.00113482 0.00607412 0.00860465 0.00113482 0.00607412 73 CM134375 Autism spectrum disorder 23352160 DM? transition C T C>T 0.000 -0.198 R Arg CGA 0.110 * * TGA 0.489 476 255 PASS . 0.0027 0.0028 . 0.01 . 0.0018 0.0014 . 0.006 0.002 ENSG00000182077:ENST00000438700:exon4:c.C1426T:p.R476X PTCHD3:uc001itu.2:exon4:c.C1426T:p.R476X PTCHD3:NM_001034842:exon4:c.C1426T:p.R476X . . 0.6 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.952 . @ . . . . . 0 0.265 . . 55.0 . . STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R476*|PTCHD3|mRNA|CODING|NM_001034842|NM_001034842.ex.4) 0.0011 0.0061 0.0086 0.0011 0.0061 0.0086 . -0.1183 -0.522 -0.118 c . . . . . 5.935e-03 . . . 0.0014 0.0039 0.0010 0 0.0053 0.0065 0.0014 0.0018 0.0014 0.0060 0.0011 0 0.0048 0.0101 0.0014 0.0019 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.077 0.0018 . . . 0.18 0.23 182 ENSG00000182077 PTCHD3 PTCHD3 . . . 0.000 0.052 . 472 0.00726422 64976 463 0.00771847 59986 Uncertain_significance . 0 . 0.024 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.019 . . . HET . . . . . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 I.43 0.001605 ENST00000438700 III.84 -1.69 . 0.750000 . . . . 0.006074 . 0.071 . . . 0.0014 0.0052 0.0009 0.0015 0 0.0040 0.0094 0.0043 0.0018 0.0009 0.0048 0.0012 0 0 0.0030 0.0082 0.0054 . . 0.133 . -0.208 -0.208000 . . 0.750000 . . 1.0E-255 0.000 0.063 . 0.062 0.000 . 0.260 . 0.096 -0.208 -1.067 0.01 . . rs142646098 rs142646098 1 1538 10 1/0 0,255,255 +rs760757191 10 27817242 A G - RAB18 14244 RAB18, member RAS oncogene family NM_001256410.1 1 5090 708 NP_001243339.1 substitution intron GRCh37 27817242 27817242 Chr10(GRCh37):g.27817242A>G 186+1424 186+1424 NM_001256410.1:c.186+1424A>G p.? p.? 3 3 602207 1424 5' 81.5823 8.90513 0.984658 0 81.5823 8.90513 0.984658 0 0 Cryptic Acceptor Strongly Activated 27817242 1.32456 0.01186 75.4312 3.63554 0.055309 79.3421 rs760757191 yes no Frequency 1 A 0.000000 0 0.000171 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.002009 0.000179 0.002009 38 0 0 0 0 0 8 29 1 222720 20278 30556 9248 16620 26360 99640 14432 5586 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 0 0 0 0 0 8 29 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . 0.0026 . . . . . . . . 1.638e-04 . . . 0 0.0002 0 0 0.0042 0 0 0 0 0.0004 0 0 0.0036 0.0002 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000099246 RAB18 RAB18 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs760757191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0021 4.725e-05 0 0 0 0.0004 0 0 0 0.0017 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs147999424 10 28438930 G A - MPP7 26542 Membrane protein, palmitoylated 7 NM_001318170.1 -1 5140 1731 NP_001305099.1 Q5T2T1 substitution missense exon GRCh37 28438930 28438930 Chr10(GRCh37):g.28438930G>A 215 215 NM_001318170.1:c.215C>T p.Ala72Val p.Ala72Val 4 610973 -20 5' 84.3303 9.11473 0.992562 5.09959 84.3303 9.11473 0.992562 4.52301 0 rs147999424 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.001612 0.000083 0.000263 0.000494 0.000000 0.000130 0.001457 0.008590 0.003425 0.008590 445 2 9 5 0 4 184 219 22 275978 24006 34164 10126 18798 30694 126272 25494 6424 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000078 0.000000 2 0 0 0 0 0 1 1 0 441 2 9 5 0 4 182 217 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4403 12999 4 3 7 0.000465116 0.00068089 0.000538213 0.000465116 0.00068089 0.000538213 68 transition C T C>T 0.945 4.241 A Ala GCG 0.107 V Val GTG 0.468 72 13 10 Zebrafish 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 254.01 0.00 Tolerated 0.19 III.33 255 PASS . 0.0014 . . 0.004 . 0.0008 . . 0.004 . . . MPP7:NM_173496:exon6:c.C215T:p.A72V . . 0.41237113 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.902 . @ . . . . . 1 0.978 . . 97.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A72V|MPP7|mRNA|CODING|NM_173496|NM_173496.ex.6) 0.0007 0.0005 0.0005 0.0007 0.0005 0.0005 . 0.6763 0.593 0.676 c . . . . . 1.681e-03 . . . 0.0002 0.0009 0.0002 0 0.0075 0.0011 0 0.0001 0.0002 0.0015 0.0002 0 0.0083 0.0019 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.137 . . exonic exonic exonic . . 0.828 0.0008 . . . 0.46 0.55 182 ENSG00000150054 MPP7 MPP7 . . . 0.999 0.378 . 116 0.00178527 64976 112 0.0018671 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.502 0.027 . . 37 . 0.435 . . 0.381 . . . 0.838 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.611 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.784 . . . . . 0.950 . 0.635 . HET 0 rs147999424 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 19.4932 8.03E-4 . V.54 V.54 . 0.060000 Q5T2T1 . . . 0.000538 . 0.683 . . V.54 6.547e-05 0.0016 0.0003 0.0005 0 0.0085 0.0014 0.0037 0.0001 0.0001 0.0019 0 0 0 0.0092 0.0015 0.0020 . . 0.428 . 2.609 2.609000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.277 0.981 . 0.746 . 0.416 2.609 0.917 0.004 . . rs147999424 rs147999424 1 1538 10 1/0 0,253,255 +rs757300194 10 29779789 C T - SVIL 11480 Supervillin NM_021738.2 -1 8297 6645 NP_068506.2 O95425 substitution missense exon GRCh37 29779789 29779789 Chr10(GRCh37):g.29779789C>T 4179 4179 NM_021738.2:c.4179G>A p.Met1393Ile p.Met1393Ile 22 604126 -14 5' 74.2342 7.35828 0.949748 6.66849 74.2342 7.35828 0.949748 6.20531 0 rs757300194 yes no Frequency 1 C 0.000000 0 0.000053 0.000000 0.000060 0.000215 0.000000 0.000215 0.000033 0.000000 0.000000 0.000215 14 0 2 2 0 6 4 0 0 264172 23634 33072 9290 18550 27916 120918 24654 6138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 2 2 0 6 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3358725|COSM3358725|COSM3358725 Liver|Kidney|Endometrium 0.000422|0.000578|0.001524 2371|1729|656 transition G A G>A 1.000 3.353 M Met ATG 1.000 I Ile ATA 0.163 1393 12 9 Tetraodon 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.06 III.29 bad 5.007E-4 0.0001113 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.105 . . 100.0 . . . . . . . . . . -0.4823 -0.409 -0.482 c . . . . . 3.189e-03 . . . 0.0008 0.0036 0.0003 0 0.0005 0.0022 0.0043 0.0140 0.0009 0.0033 0.0003 0.0004 0.0025 0.0018 0.0060 0.0141 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.108 . . exonic exonic exonic . . 0.334 @ . . . . . . ENSG00000197321 SVIL SVIL . . . 0.986 0.310 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.779 . . 0.726 . . . 0.323 0.480 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.198 . . 0.158 . . . . . . 1 0.263 . . . . . 0.487 . 0.544 . LowAF 0.13 rs757300194 . . . . . . ID\x3dCOSM3358725\x3bOCCURENCE\x3d1(kidney) . . . . . XI.88 . . III.88 II.98 . 0.150000 . . . . . . 0.704 . . II.98 0 5.131e-05 6.2e-05 0.0002 0 0 1.883e-05 0 0.0002 0 6.598e-05 0 0 0 0 0.0001 0 . . 0.609 . 0.848 0.848000 . . 0.150000 . . 1.0E-183 1.000 0.715 . 0.888 1.000 . 0.670 . 0.333 0.848 0.871 . . . . . 1 1538 10 1/0 0,228,255 +rs11813359 10 30318345 C T - JCAD 29283 Junctional cadherin 5 associated NM_001350022.1 -1 9472 4080 NP_001336951.1 Q9P266 substitution synonymous exon GRCh37 30318345 30318345 Chr10(GRCh37):g.30318345C>T 732 732 NM_001350022.1:c.732G>A p.Thr244= p.Thr244Thr 4 614398 451 3' 92.7048 X.39 0.96956 XII.02 92.7048 X.39 0.96956 XII.02 0 rs11813359 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.003994 0.002300 0.001000 0.000000 0.013900 0.002900 0.009367 0.003042 0.005026 0.009953 0.000000 0.005458 0.014975 0.004497 0.010530 0.014975 2596 73 173 101 0 168 1897 116 68 277144 23998 34420 10148 18864 30782 126680 25794 6458 0.000152 0.000000 0.000058 0.000000 0.000000 0.000325 0.000237 0.000000 0.000000 21 0 1 0 0 5 15 0 0 2554 73 171 101 0 158 1867 116 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8169 3910 12079 113 12 125 0.013644 0.00305966 0.0102425 0.013644 0.00305966 0.0102425 138 transition G A G>A 0.008 -0.198 T Thr ACG 0.116 T Thr ACA 0.280 244 255 PASS 0.002 0.01 0.0028 . 0.01 0.0023 0.004 0.0029 . 0.014 0.001 ENSG00000165757:ENST00000375377:exon3:c.G732A:p.T244T . KIAA1462:NM_020848:exon3:c.G732A:p.T244T . . 0.5405405 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 111.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T244|KIAA1462|mRNA|CODING|NM_020848|NM_020848.ex.3) 0.0031 0.01 0.014 0.0031 0.01 0.014 . -0.0371 . . . . . . . . 9.926e-03 . . . 0.0034 0.0081 0.0039 0 0.0034 0.0130 0.0028 0.0056 0.0032 0.0096 0.0035 0 0.0041 0.0153 0.0058 0.0055 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0040 . . . 0.31 0.48 182 ENSG00000165757 KIAA1462 KIAA1462 . . . . . . 813 0.0125123 64976 793 0.0132198 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11813359 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010243 . . . . . 0.0028 0.0096 0.0050 0.0095 0 0.0044 0.0155 0.0100 0.0055 0.0034 0.0076 0.0048 0.0233 0 0.0052 0.0109 0.0133 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 rs11813359 rs11813359 rs11813359 rs11813359 1 1538 10 1/0 0,255,255 +. 10 31652262 G C - ZEB1 11642 Zinc finger E-box binding homeobox 1 NM_001174096.1 1 5991 3378 NP_001167567.1 substitution intron GRCh37 31652262 31652262 Chr10(GRCh37):g.31652262G>C 58+44041 58+44041 NM_001174096.1:c.58+44041G>C p.? p.? 1 1 189909 44041 5' 86.4167 XI.33 0.991926 16.0144 86.4167 XI.33 0.991926 16.0144 0 transversion G C G>C 0.339 0.044 196 PASS . . . . . . . . . . . . . . . . 0.14893617 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . -0.1449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000196960 ZEB1 ZEB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs61841293 (chr10:38897584 G/A) 10 38897584 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs61841294 (chr10:38897601 G/A) 10 38897601 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs74406779 (chr10:38897619 C/T) 10 38897619 C T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs77778770 (chr10:38897626 T/A) 10 38897626 T A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs796838130 (chr10:38897632 G/A) 10 38897632 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs77695953 (chr10:38897635 G/A) 10 38897635 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs184522060 (chr10:38897640 G/A) 10 38897640 G A No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs796537308 (chr10:38897671 C/T) 10 38897671 C T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs796611642 (chr10:38897673 A/G) 10 38897673 A G No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs796861239 (chr10:38897674 G/T) 10 38897674 G T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs373096694 (chr10:38897692 C/T) 10 38897692 C T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs112170342 (chr10:38897697 C/T) 10 38897697 C T No Alamut gene - other known genes: ABCD1P2 ABCD1P2 +rs4272729 (chr10:38934217 G/A) 10 38934217 G A Not on a known gene +rs4253994 (chr10:38934239 A/T) 10 38934239 A T Not on a known gene +. (chr10:38938435 C/G) 10 38938435 C G Not on a known gene +rs199747655 (chr10:38938438 T/A) 10 38938438 T A Not on a known gene +rs2208484 (chr10:38938452 A/G) 10 38938452 A G Not on a known gene +rs4070337 (chr10:38938479 C/A) 10 38938479 C A Not on a known gene +rs201520351 (chr10:38938510 T/C) 10 38938510 T C Not on a known gene +rs199987369 (chr10:38938522 G/A) 10 38938522 G A Not on a known gene +rs201101738 (chr10:38938541 C/G) 10 38938541 C G Not on a known gene +rs4436477 (chr10:38939503 A/G) 10 38939503 A G Not on a known gene +rs4474366 (chr10:38939542 T/C) 10 38939542 T C Not on a known gene +rs201133963 10 38990144 G A - ACTR3BP5 38682 ACTR3B pseudogene 5 NR_045000.1 1 1646 0 substitution exon GRCh37 38990144 38990144 Chr10(GRCh37):g.38990144G>A 418 418 NR_045000.1:n.418G>A 1 rs201133963 no no 0 G 0.000000 0 transition G A G>A 1.000 3.111 231 PASS . . . . . . . . . . . . . . . . 0.24657534 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D140N|ACTR3BP5|Non-coding_transcript|NON_CODING|NR_045000|NR_045000.ex.1) . . . . . . . 0.0555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.46 0.02 182 ENSG00000227264 ACTR3BP5 ACTR3BP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201133963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs4059699 rs4059699 rs4059699 rs201133963 1 1538 10 1/0 0,251,255 +. 10 38990214 G A - ACTR3BP5 38682 ACTR3B pseudogene 5 NR_045000.1 1 1646 0 substitution exon GRCh37 38990214 38990214 Chr10(GRCh37):g.38990214G>A 488 488 NR_045000.1:n.488G>A 1 transition G A G>A 1.000 2.304 202 PASS . . . . . . . . . . . . . . . . 0.16455697 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C163Y|ACTR3BP5|Non-coding_transcript|NON_CODING|NR_045000|NR_045000.ex.1) . . . . . . . 0.0664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.48 0.01 182 ENSG00000227264 ACTR3BP5 ACTR3BP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs4068729 rs4068729 rs4068729 rs4068729 1 1538 10 1/0 0,241,255 +. (chr10:42681215 GT/G) 10 42681215 GT G Not on a known gene +rs3128239 10 44103923 G C - ZNF485 23440 Zinc finger protein 485 NM_001318140.1 1 2072 1326 NP_001305069.1 Q8NCK3 substitution intron GRCh37 44103923 44103923 Chr10(GRCh37):g.44103923G>C 25-139 25-139 NM_001318140.1:c.25-139G>C p.? p.? 3 2 -139 3' 93.4477 6.94984 0.833516 6.15852 93.4477 6.94984 0.833516 6.15852 0 Cryptic Acceptor Strongly Activated 44103926 1.8e-05 60.2635 2.21533 0.076759 71.0855 rs3128239 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30979 8729 838 302 1622 0 15012 3494 982 30980 8730 838 302 1622 0 15012 3494 982 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15489 4364 419 151 811 0 7506 1747 491 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 47 Genomes transversion G C G>C 0.000 -0.360 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 71 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . INTRON(MODIFIER||||ZNF485|mRNA|CODING|NM_145312|) . . . . . . . -0.3376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.18 0.06 182 ENSG00000198298 ZNF485 ZNF485 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs3128239 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs3128239 rs3128239 rs3128239 rs3128239 1 1538 255 1.I 0,0,255 +rs181419001 10 45466936 T C - RASSF4 20793 Ras association (RalGDS/AF-6) domain family member 4 NM_032023.3 1 2495 966 NP_114412.2 Q9H2L5 substitution intron GRCh37 45466936 45466936 Chr10(GRCh37):g.45466936T>C 63-285 63-285 NM_032023.3:c.63-285T>C p.? p.? 3 2 610559 -285 3' 88.0611 14.7494 0.996734 XII.95 88.0611 14.7494 0.996734 XII.95 0 Cryptic Acceptor Weakly Activated 45466939 1.46159 0.09353 70.862 2.48856 0.067697 77.0387 rs181419001 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.002849 0.000265 0.000934 0.002635 0.000000 0.000000 0.004993 0.006218 0.004480 0.006218 467 4 23 22 0 0 332 65 21 163898 15108 24622 8348 11586 22598 66494 10454 4688 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000060 0.000191 0.000000 3 0 0 0 0 0 2 1 0 461 4 23 22 0 0 328 63 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.924 255 PASS . 0.0032 . . 0.01 . 0.0014 . . 0.007 . . . . . . 0.46153846 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.2622 . . . . . . . . 1.518e-03 . . . 0.0015 0.0015 0 0 0 0.0045 0 0 0 0.0017 0 0 0.0068 0.0039 0 0 . . . . . . intronic UTR5 intronic . . . 0.0014 . . . 0.37 0.15 182 ENSG00000107551 RASSF4 RASSF4 . uc001jbp.3:c.-130T>C . . . . 144 0.0022162 64976 137 0.00228387 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs181419001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0023 0.0010 0.0027 0 0.0060 0.0039 0.0035 0 0.0003 0.0053 0 0 0 0.0066 0.0087 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs181419001 rs181419001 1 1538 10 1/0 0,254,255 +rs184722204 10 45799953 A T - OR13A1 14772 Olfactory receptor, family 13, subfamily A, member 1 NM_001004297.2 -1 2078 987 NP_001004297.2 Q8NGR1 substitution intron GRCh37 45799953 45799953 Chr10(GRCh37):g.45799953A>T -83 -83 NM_001004297.2:c.-12-71T>A p.? p.? 4 3 -71 3' 82.9113 9.08691 0.986856 10.1098 82.9113 9.08691 0.986856 X.87 0 New Acceptor Site 45799951 4.68356 0.110244 77.9092 45799954 -5.96791 rs184722204 yes no Frequency/1000G 2 A 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.002002 0.000344 0.000000 0.000000 0.000000 0.000000 0.002332 0.005441 0.005092 0.005441 62 3 0 0 0 0 35 19 5 30970 8728 838 302 1620 0 15008 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 3 0 0 0 0 35 19 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T A T>A 0.000 0.044 255 PASS . 0.0027 . . 0.01 . 0.001 . . 0.005 . . . . . . 0.4 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||OR13A1|mRNA|CODING|NM_001004297|) . . . . . . . 0.1106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.26 0.37 182 ENSG00000256574 OR13A1 OR13A1 . . . . . . 128 0.00196996 64976 123 0.00205048 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . . . . . . . . . . 0.0003 0.0020 0 0 0 0.0054 0.0023 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs184722204 rs184722204 1 1538 10 1/0 0,255,255 +rs200609257 (chr10:46174375 G/A) 10 46174375 G A No Alamut gene - other known genes: CTGLF10P CTGLF10P +rs61855788 10 46194360 A G - FAM21FP 45011 Family with sequence similarity 21, member F, pseudogene XR_247515.1 -1 1596 0 substitution downstream GRCh37 46194360 46194360 Chr10(GRCh37):g.46194360A>G *7188 *7188 XR_247515.1:n.*7188T>C p.? p.? 13 7651 3' 89.871 XI.72 0.952271 9.84796 89.871 XI.72 0.952271 9.84796 0 rs61855788 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000000 0.002000 0.001000 0.000000 0.001400 0.000849 0.004016 0.000000 0.000000 0.000000 0.000000 0.000781 0.000000 0.000000 0.004016 3 2 0 0 0 0 1 0 0 3534 498 170 34 92 0 1280 1282 178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 73 Genomes transition T C T>C 1.000 2.385 214 PASS . . . . . . 0.0008 0.0014 0.001 . 0.002 . . . . . 0.19565217 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 138.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic downstream intergenic . . . 0.0008 . . . . . . ENSG00000230869 DQ577099 . . . dist\x3d26099\x3bdist\x3d28288 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs61855788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0008 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs61855788 rs61855788 rs61855788 rs61855788 1 1538 10 1/0 0,221,255 +rs781789106 10 46321555 G C - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution missense exon GRCh37 46321555 46321555 Chr10(GRCh37):g.46321555G>C 1869 1869 NM_001276343.2:c.1869C>G p.Asp623Glu p.Asp623Glu 8 1284 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 0.000315 0.000000 0.000604 0.000000 0.000825 0.000000 0.000184 0.000873 0.000832 0.000873 13 0 4 0 4 0 3 1 1 41244 7270 6622 792 4848 3078 16286 1146 1202 0.000048 0.000000 0.000000 0.000000 0.000413 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 9 0 4 0 2 0 1 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4417469 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C G C>G 1.000 0.690 D Asp GAC 0.539 E Glu GAG 0.583 623 13 10 C. elegans 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 223.67 0.00 Tolerated 0.24 III.13 217 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.C1800G:p.D600E . . . . 0.20454545 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.387 . @ . . . . . 1 0.246 . . 88.0 . . . . . . . . . . -0.8196 -1.079 -0.820 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . . @ . . . 0.47 0.44 182 ENSG00000188234 AGAP4 AGAP4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.410 . . . . T 0.199 0.007 . . 37 . 0.396 . . 0.496 . . . 0.368 0.325 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.558 . . 0 0 0 0 0 0 . 0.764 . . 0.916 . . . . . . 0 0.353 . . . . . 0.116 . 0.260 . HET 0.1 . . . . . . . . . . . . . IV.74 . . . . . 0.020000 . . . . . . 0.253 . . . 0 0.0003 0.0006 0 0.0007 0 0 0.0011 0 0 0.0004 0 0 0.0017 0.0013 0.0005 0 . . 0.558 . -1.657 -1.657000 . . 0.020000 . . 1.0E-217 1.000 0.715 . 0.198 0.810 . 0.207 . 0.247 -1.657 -0.230 . rs61850063 rs61850063 rs61850063 rs61850063 1 1538 10 1/0 0,241,255 +. 10 46321582 C A - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution missense exon GRCh37 46321582 46321582 Chr10(GRCh37):g.46321582C>A 1842 1842 NM_001276343.2:c.1842G>T p.Glu614Asp p.Glu614Asp 8 1257 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 0.000182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000402 0.000000 0.000000 0.000402 3 0 0 0 0 0 3 0 0 16460 5566 534 136 812 0 7454 1502 456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 26 Genomes transversion G T G>T 1.000 1.497 E Glu GAG 0.583 D Asp GAT 0.461 614 13 8 Zebrafish 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 263.50 XI.33 Tolerated 0.51 III.13 183 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.G1773T:p.E591D . . . . 0.12087912 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.297 . @ . . . . . 1 0.075 . . 91.0 . . . . . . . . . . -0.8034 -0.903 -0.803 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.610 . . exonic exonic exonic . . . @ . . . . . . ENSG00000188234 AGAP4 AGAP4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.278 0.011 . . 37 . 0.389 . . 0.438 . . . 0.011 0.348 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.468 . . 0 0 0 0 0 0 . 0.615 . . 0.807 . . . . . . 0 0.111 . . . . . 0.180 . 0.174 . LowAF 0.37 . . . . . . . . . . . . . V.89 . . . . . 0.460000 . . . . . . 0.270 . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0004 0 . . 0.558 . 0.107 0.107000 . . 0.460000 . . 1.0E-183 1.000 0.715 . 0.134 0.967 . 0.240 . 0.016 0.107 0.537 . . . . . 1 1538 10 1/0 0,232,255 +rs4043106 10 46321912 T A - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution synonymous exon GRCh37 46321912 46321912 Chr10(GRCh37):g.46321912T>A 1512 1512 NM_001276343.2:c.1512A>T p.Gly504= p.Gly504Gly 8 927 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 New Donor Site 46321914 7.90757 0.830159 71.3518 rs4043106 yes no Frequency 1 T 0.000000 0 0.000259 0.000116 0.000000 0.000000 0.000323 0.001428 0.000308 0.000000 0.000000 0.001428 15 1 0 0 2 5 7 0 0 57854 8650 10362 1194 6192 3502 22742 3550 1662 0.000069 0.000000 0.000000 0.000000 0.000323 0.000571 0.000000 0.000000 0.000000 2 0 0 0 1 1 0 0 0 11 1 0 0 0 3 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.988 -2.539 G Gly GGA 0.246 G Gly GGT 0.162 504 255 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.A1443T:p.G481G . . . . 0.55 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.8373 . . . . . . . . 3.283e-03 . . . 0 0.0222 . 0 . 0 0 1 0 0.0833 . . . 0 . 1 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.34 182 ENSG00000188234 AGAP4 AGAP4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0.0004 0 0.0003 0 0.0014 0.0002 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3881612 rs3881612 rs3881612 rs199639703 1 1538 10 1/0 0,255,255 +rs201624816 10 46322125 G T - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution synonymous exon GRCh37 46322125 46322125 Chr10(GRCh37):g.46322125G>T 1299 1299 NM_001276343.2:c.1299C>A p.Ala433= p.Ala433Ala 8 714 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 rs201624816 yes no Frequency/1000G 2 G 0.000000 0 0.000064 0.000000 0.000095 0.000000 0.000000 0.000000 0.000125 0.000000 0.000000 0.000125 4 0 1 0 0 0 3 0 0 62046 10458 10526 1176 6738 3472 23946 3910 1820 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000084 0.000000 0.000000 1 0 0 0 0 0 1 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.992 -0.360 A Ala GCC 0.403 A Ala GCA 0.226 433 244 PASS 0.04 0.07 0.08 0.1 0.05 . . . . . . ENSG00000188234:ENST00000448048:exon7:c.C1230A:p.A410A . . . . 0.29411766 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.4716 . . . . . . . . 3.264e-03 . . . . 0 . . . . . . . 0 . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.25 182 ENSG00000188234 AGAP4 AGAP4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201624816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.774e-05 0.0001 0 0 0 0.0002 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . 0.1 . rs71245233 rs71245233 rs201624816 1 1538 10 1/0 0,255,255 +. 10 46322589 C T - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution missense exon GRCh37 46322589 46322589 Chr10(GRCh37):g.46322589C>T 835 835 NM_001276343.2:c.835G>A p.Gly279Ser p.Gly279Ser 8 250 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 0.000610 0.001571 0.001751 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001751 14 4 10 0 0 0 0 0 0 22968 2546 5712 514 3104 1848 7958 614 672 0.000087 0.000786 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 12 2 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 2.950 G Gly GGC 0.342 S Ser AGC 0.243 279 13 12 C. elegans 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 206.04 29.56 Deleterious 0 III.36 176 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.G766A:p.G256S . . . . 0.10526316 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.283 . @ . . . . . 1 0.197 . . 152.0 . . . . . . . . . . -0.5687 -0.718 -0.569 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.599 . . exonic exonic exonic . . . @ . . . . . . ENSG00000188234 AGAP4 AGAP4 . . . 0.000 0.070 . . . . . . . Uncertain_significance . 0 . 0.559 . . . . T 0.188 0.007 . . 37 . 0.558 . . 0.540 . . . 0.646 0.461 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.734 . . 0 0 0 0 0 0 . 0.899 . . 0.754 . . . . . . 0 0.501 . . . . . 0.178 . 0.249 . LowAF 0.02 . . . . . . . . . . . . . 5.844 . . . . . 0.010000 . . . . . . 0.284 . . . 0.0017 0.0006 0.0018 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.558 . 0.064 0.064000 . . 0.010000 . . 1.0E-176 1.000 0.715 . 0.259 0.784 . 0.657 . 0.246 0.064 0.542 . . . . . 1 1538 10 1/0 0,208,255 +rs782252245 10 46322682 T C - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 substitution missense exon GRCh37 46322682 46322682 Chr10(GRCh37):g.46322682T>C 742 742 NM_001276343.2:c.742A>G p.Met248Val p.Met248Val 8 157 3' 88.0254 X.65 0.972511 9.14122 88.0254 X.65 0.972511 9.14122 0 Cryptic Donor Strongly Activated 46322687 0.002179 55.2117 3.15872 0.024839 67.3633 rs782252245 no no 0 T 0.000000 0 0.003174 0.016717 0.001333 0.000000 0.002016 0.006803 0.000451 0.000000 0.004274 0.016717 24 11 3 0 2 6 1 0 1 7562 658 2250 122 992 882 2218 206 234 0.000264 0.000000 0.000000 0.000000 0.000000 0.002268 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 22 11 3 0 2 4 1 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 1.000 2.385 M Met ATG 1.000 V Val GTG 0.468 248 13 2 Chimp 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 257.76 0.00 Tolerated 0.06 III.36 184 PASS . . . . . . . . . . . ENSG00000188234:ENST00000448048:exon7:c.A673G:p.M225V . . . . 0.12244898 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.015 . . 98.0 . . . . . . . . . . -0.9148 -0.958 -0.915 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.449 . . exonic exonic exonic . . . @ . . . 0.46 0.4 182 ENSG00000188234 AGAP4 AGAP4 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . T 0.043 0.002 . . 37 . 0.306 . . 0.097 . . . 0.065 0.212 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.307 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.257 . . . . . 0.112 . 0.210 . LowAF 0.03 rs782252245 . . . . . . . . . . . . IV.78 . . . . . 0.230000 . . . . . . 0.251 . . . 0.0173 0.0033 0.0013 0 0.0020 0 0.0005 0.0044 0.0068 0 0 0 . . 0 0 0 . . 0.558 . 0.056 0.056000 . . 0.230000 . . 9.999999999999999E-185 1.000 0.715 . 0.152 0.626 . 0.482 . 0.248 0.056 0.615 . rs61855788 rs61855788 rs61855788 rs61855788 1 1538 10 1/0 0,229,255 +. 10 46326887 GA G - AGAP4 23459 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 NM_001276343.2 -1 2510 2061 NP_001263272.2 deletion intron GRCh37 46326888 46326888 Chr10(GRCh37):g.46326888del 498-11 498-11 NM_001276343.2:c.498-11del p.? p.? 6 5 -11 3' 86.7372 IX.61 0.95434 7.82107 86.7372 9.62505 0.935161 7.1019 0.00658769 T 255 Pass . . . . . . . . . . . . . . . . 0.43589744 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000188234 AGAP4 AGAP4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,36 +. (chr10:46568147 T/C) 10 46568147 T C Not on a known gene +rs774935856 (chr10:46673494 C/G) 10 46673494 C G No Alamut gene - other known genes: FRMPDP2 FRMPDP2 +rs61855614 (chr10:46729923 A/G) 10 46729923 A G No Alamut gene - other known genes: CTGLF8P CTGLF8P +. 10 46898090 A T - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46898090 46898090 Chr10(GRCh37):g.46898090A>T 2841 2841 NR_027632.1:n.2841T>A 7 1081 3' 0 0 0 0 0 0 0 0 0 transversion T A T>A 0.000 0.367 204 PASS . . . . . . . . . . . . . . . . 0.17142858 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R150S|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . -0.0058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000165874 . FAM35BP . dist\x3d129744\x3bdist\x3d16497 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 10 46898472 A G - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46898472 46898472 Chr10(GRCh37):g.46898472A>G 2459 2459 NR_027632.1:n.2459T>C 7 699 3' 0 0 0 0 0 0 0 0 0 transition T C T>C 0.055 -0.037 233 PASS . . . . . . . . . . . . . . . . 0.25925925 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 27.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T278A|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . 0.0645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000165874 . FAM35BP . dist\x3d130126\x3bdist\x3d16115 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 46898623 C T - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46898623 46898623 Chr10(GRCh37):g.46898623C>T 2308 2308 NR_027632.1:n.2308G>A 7 548 3' 0 0 0 0 0 0 0 0 0 transition G A G>A 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 34.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S328L|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . 0.1767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000165874 . FAM35BP . dist\x3d130277\x3bdist\x3d15964 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 46898856 GT G - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 deletion exon GRCh37 46898857 46898857 Chr10(GRCh37):g.46898857del 2074 2074 NR_027632.1:n.2074del 7 314 3' 0 0 0 0 0 0 0 0 0 A 255 Pass . . . . . . . . . . . . . . . . 0.9444444 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 18 . . FRAME_SHIFT(HIGH||||FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . . . . . . . . ENSG00000165874 . FAM35BP . dist\x3d130511\x3bdist\x3d15730 . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,126,255 +rs4925982 10 46899162 T G - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46899162 46899162 Chr10(GRCh37):g.46899162T>G 1769 1769 NR_027632.1:n.1769A>C 7 9 3' 0 0 0 0 0 0 0 0 0 rs4925982 no no 0 T 0.000000 0 transversion A C A>C 0.921 1.981 242 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 17.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Gac|Y508D|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.1) . . . . . . . 0.8504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.72 0.63 182 ENSG00000165874 . FAM35BP . dist\x3d130816\x3bdist\x3d15425 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs4925982 rs4925982 rs4925982 rs4925982 1 1538 10 1/0 0,255,255 +rs576121314 10 46918609 G A - FAM35BP 31425 Family with sequence similarity 35, member B, pseudogene NR_027632.1 -1 3290 0 substitution exon GRCh37 46918609 46918609 Chr10(GRCh37):g.46918609G>A 1379 1379 NR_027632.1:n.1379C>T 4 57 3' 0 0 0 0 0 0 0 0 0 rs576121314 yes no Frequency/1000G 2 G 0.002796 A 14 0.002796 0.010600 0.000000 0.000000 0.000000 0.000000 0.001350 0.011109 0.000842 0.000000 0.000000 0.000229 0.000049 0.000000 0.000367 0.011109 139 123 11 0 0 2 2 0 1 102978 11072 13058 3164 9134 8730 40730 14366 2724 0.000136 0.001264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 7 7 0 0 0 0 0 0 0 125 109 11 0 0 2 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.609 218 PASS . . . . . 0.011 0.0028 . . . . . FAM35BP:uc010qfo.2:exon3:c.G39A:p.A13A . . . 0.21212122 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 33.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A638T|FAM35BP|Non-coding_transcript|NON_CODING|NR_027632|NR_027632.ex.4) . . . . . . . 0.6451 . . . . . . . . 4.413e-04 . . . 0.0146 0.0021 0 0 0 0 0 0 0.0201 0.0029 0 0 0 0 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0028 . . . 0.49 0.34 182 ENSG00000165874 FAM35BP FAM35BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0114 0.0010 0.0008 0 0 0 0 0.0005 0.0002 0.0108 0.0031 0.0027 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs75955378 rs75955378 1 1538 10 1/0 0,255,255 +rs140015219 10 46999209 G A - GPRIN2 23730 G protein regulated inducer of neurite outgrowth 2 NM_014696.4 1 6898 1377 NP_055511.2 O60269 substitution missense exon GRCh37 46999209 46999209 Chr10(GRCh37):g.46999209G>A 329 329 NM_014696.4:c.329G>A p.Arg110Gln p.Arg110Gln 3 611240 335 3' 93.2095 XII.27 0.993568 17.5372 93.2095 XII.27 0.993568 17.5372 0 New Acceptor Site 46999211 X.55 0.694303 86.6935 rs140015219 yes no Frequency/1000G 2 G 0.000000 0 0.003732 0.000973 0.001811 0.000501 0.000106 0.001341 0.005373 0.007742 0.004260 0.007742 1012 23 62 5 2 41 660 192 27 271178 23630 34230 9980 18794 30580 122826 24800 6338 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1012 23 62 5 2 41 660 192 27 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8549 4399 12948 35 3 38 0.00407735 0.000681508 0.00292623 0.00407735 0.000681508 0.00292623 29 transition G A G>A 0.024 0.205 R Arg CGG 0.207 Q Gln CAG 0.744 110 12 7 Dog 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.37 III.14 236 PASS . 0.01 0.02 . 0.01 . . . . . . . . GPRIN2:NM_014696:exon3:c.G329A:p.R110Q . . 0.26050422 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 238.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R110Q|GPRIN2|mRNA|CODING|NM_014696|NM_014696.ex.3) 0.0007 0.0029 0.0041 0.0007 0.0029 0.0041 . -0.9191 -0.881 -0.919 c . . . . . 5.553e-03 . . . 0.0012 0.0043 0.0021 0 0.0110 0.0065 0.0074 0.0020 0.0010 0.0055 0.0020 0.0001 0.0101 0.0081 0.0118 0.0020 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.200 @ . . . 0.26 0.43 182 ENSG00000204175 GPRIN2 GPRIN2 . . . 1.000 0.747 . 22 0.000338587 64976 20 0.000333411 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.258 . . . HET 0.4 rs140015219 . 0.022 . . . . . 0.007326007326007326 0.0 0.016574585635359115 0.0 0.013192612137203167 VII.37 0.001072 . 5.XI I.18 . 0.580000 O60269 . . . 0.002926 . . . . . 0.0007 0.0037 0.0017 0.0005 0.0001 0.0078 0.0054 0.0043 0.0013 0.0014 0.0041 0.0048 0 0 0.0075 0.0054 0.0041 . . 0.522 . 0.131 0.131000 . . 0.580000 . . 1.0E-236 0.000 0.063 . 0.289 . . 0.112 . 0.490 0.131 . 0.02 . . rs140015219 rs140015219 1 1538 10 1/0 0,203,255 +rs61842808 (chr10:47192426 A/G) 10 47192426 A G No Alamut gene - other known genes: AGAP10 AGAP10 +rs200285110 (chr10:47213368 T/C) 10 47213368 T C No Alamut gene - other known genes: AGAP10 AGAP10 +. 10 47239225 C T - BMS1P2 23650 BMS1 pseudogene 2 NR_072978.1 -1 4704 0 substitution intron GRCh37 47239225 47239225 Chr10(GRCh37):g.47239225C>T 524+68 524+68 NR_072978.1:n.524+68G>A p.? p.? 4 4 68 5' 91.4889 X.58 0.994113 7.09697 91.4889 X.58 0.994113 7.45673 0 transition G A G>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5135135 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||BMS1P6|Non-coding_transcript|NON_CODING|NR_024495.2|) . . . . . . . -0.4426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . BMS1P6 BMS1P6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 47239225 C T - BMS1P6 23654 BMS1 pseudogene 6 NR_024495.2 -1 4704 0 substitution intron GRCh37 47239225 47239225 Chr10(GRCh37):g.47239225C>T 524+68 524+68 NR_024495.2:n.524+68G>A p.? p.? 4 4 68 5' 91.4889 X.58 0.994113 7.09697 91.4889 X.58 0.994113 7.45673 0 transition G A G>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5135135 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||BMS1P6|Non-coding_transcript|NON_CODING|NR_024495.2|) . . . . . . . -0.4426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . BMS1P6 BMS1P6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 47380551 A G - FAM35DP 34038 Family with sequence similarity 35, member D, pseudogene NR_027634.1 1 3294 0 substitution exon GRCh37 47380551 47380551 Chr10(GRCh37):g.47380551A>G 832 832 NR_027634.1:n.832A>G 1 -699 5' 81.6581 8.48112 0.907988 0 81.6581 8.48112 0.907988 0 0 0.000150 0.000000 0.000000 0.000000 0.000734 0.000000 0.000240 0.000000 0.000000 0.000734 4 0 0 0 1 0 3 0 0 26668 7856 718 214 1362 0 12492 3230 796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 26 Genomes transition A G A>G 0.102 -0.037 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T278A|FAM35DP|Non-coding_transcript|NON_CODING|NR_027634|NR_027634.ex.1) . . . . . . . 0.0995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000189014 . FAM35DP . dist\x3d107120\x3bdist\x3d16108 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0.0007 0 0.0002 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 47752608 C T - ANXA8L1 23334 Annexin A8-like 1 NM_001098845.2 1 2100 984 NP_001092315.2 Q5VT79 substitution intron GRCh37 47752608 47752608 Chr10(GRCh37):g.47752608C>T 207+109 207+109 NM_001098845.2:c.207+109C>T p.? p.? 3 3 109 5' 91.977 0 0 0 91.977 0 0 0 0 Cryptic Donor Weakly Activated 47752606 58.1985 0.392614 0.105725 63.3834 0.000032 0.000241 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000241 1 1 0 0 0 0 0 0 0 31624 4148 7576 800 2040 3406 12138 486 1030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transition C T C>T 0.000 -1.570 255 PASS . . . . . . . . . . . . ANXA8L2:uc009xnh.1:exon3:c.C316T:p.Q106X . . . 0.5 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . -0.2821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . intronic exonic intronic . . . @ . . . 0.35 0.38 182 . ANXA8L2 ANXA8L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 3.162e-05 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3879567 rs3879567 rs3879567 rs3879567 1 1538 10 1/0 0,255,255 +. (chr10:47769740 C/CA) 10 47769740 C CA Not on a known gene +rs61842952 (chr10:47769742 T/C) 10 47769742 T C Not on a known gene +rs2338327 (chr10:47910971 T/C) 10 47910971 T C Not on a known gene +. (chr10:48190125 G/A) 10 48190125 G A Not on a known gene +. 10 48215982 A G - AGAP9 23463 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 NM_001190810.1 1 2387 1977 NP_001177739.1 substitution synonymous exon GRCh37 48215982 48215982 Chr10(GRCh37):g.48215982A>G 147 147 NM_001190810.1:c.147A>G p.Val49= p.Val49Val 1 -77 5' 94.6745 X.23 0.998485 9.41157 94.6745 X.23 0.998485 9.68031 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.008 0.044 V Val GTA 0.114 V Val GTG 0.468 49 203 PASS . . . . . . . . . . . . AGAP9:uc009xnl.2:exon1:c.A147G:p.V49V AGAP9:NM_001190810:exon1:c.A147G:p.V49V . . 0.17073171 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V49|AGAP9|mRNA|CODING|NM_001190810.2|NM_001190810.2.ex.1) . . . . . . . -0.7839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.27 182 ENSG00000198035 AGAP9 AGAP9 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . III.63 . ENST00000432490 1.II 0.00828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.028 0.028000 . . . . . 1.0E-203 . . . . . . . . . 0.028 . . rs17357361 rs17357361 rs17357361 rs17357361 1 1538 10 1/0 0,255,255 +. 10 48216061 A G - AGAP9 23463 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 NM_001190810.1 1 2387 1977 NP_001177739.1 substitution splice site GRCh37 48216061 48216061 Chr10(GRCh37):g.48216061A>G 223+3 223+3 NM_001190810.1:c.223+3A>G p.? p.? 1 1 3 5' 94.6745 X.23 0.998485 9.41157 90.3122 9.15773 0.991813 7.82909 -0.0605374 transition A G A>G 0.709 -0.521 207 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||AGAP9|mRNA|CODING|NM_001190810.2|) . . . . . . . 0.1398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.25 182 ENSG00000198035 AGAP9 AGAP9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs188982343 rs188982343 1 1538 10 1/0 0,255,255 +. 10 48236926 T C - AGAP9 23463 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 NM_001190810.1 1 2387 1977 NP_001177739.1 substitution missense exon GRCh37 48236926 48236926 Chr10(GRCh37):g.48236926T>C 1693 1693 NM_001190810.1:c.1693T>C p.Trp565Arg p.Trp565Arg 8 1108 3' 85.2526 X.57 0.95832 9.25671 85.2526 X.57 0.95832 9.25671 0 Cryptic Donor Strongly Activated 48236927 0.007711 64.5877 1.31536 0.013096 64.1846 Arf GTPase activating protein transition T C T>C 1.000 1.658 W Trp TGG 1.000 R Arg CGG 0.207 565 12 2 Macaque -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 353.86 0.00 Tolerated 1 III.32 good 9.906E-1 0.03157 239 PASS . . . . . . . . . . . . AGAP9:uc009xnl.2:exon8:c.T1693C:p.W565R AGAP9:NM_001190810:exon8:c.T1693C:p.W565R . . 0.27102804 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W565R|AGAP9|mRNA|CODING|NM_001190810.2|NM_001190810.2.ex.8) . . . . . . . -1.5858 -1.477 -1.586 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.41 182 ENSG00000198035 AGAP9 AGAP9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.974 0.687 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.047 . . . HET 1 . . . . . . . . . . . . . II.05 . . . . . 1.000000 D3YTF3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.093 0.093000 . . 1.000000 . . 1.0E-239 1.000 0.715 . 0.043 . . 0.336 . 0.002 0.093 . . rs1047435 rs1047435 rs1047435 rs1047435 1 1538 10 1/0 0,240,255 +. (chr10:48277790 C/G) 10 48277790 C G Not on a known gene +. (chr10:48278068 C/CA) 10 48278068 C CA Not on a known gene +. (chr10:48278070 T/C) 10 48278070 T C Not on a known gene +. 10 48860393 C G - FRMPD2B 16843 FERM and PDZ domain containing 2B, pseudogene NR_033172.1 -1 1947 0 substitution intron GRCh37 48860393 48860393 Chr10(GRCh37):g.48860393C>G 476+43 476+43 NR_033172.1:n.476+43G>C p.? p.? 2 2 43 5' 81.491 7.22671 0.79781 II.19 81.491 7.22671 0.79781 2.28774 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transversion G C G>C 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.625 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||FRMPD2B|Non-coding_transcript|NON_CODING|NR_033172|) . . . . . . . -0.2858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000197704 FRMPD2P1 FRMPD2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr10:49087840 A/T) 10 49087840 A T Not on a known gene +. (chr10:49088222 A/G) 10 49088222 A G Not on a known gene +. (chr10:49088373 C/T) 10 49088373 C T Not on a known gene +. (chr10:49088606 GT/G) 10 49088606 GT G Not on a known gene +. (chr10:49088912 T/G) 10 49088912 T G Not on a known gene +rs374631622 10 50953568 G A - OGDHL 25590 Oxoglutarate dehydrogenase-like NM_001347819.1 -1 3652 3033 NP_001334748.1 Q9ULD0 substitution intron GRCh37 50953568 50953568 Chr10(GRCh37):g.50953568G>A 1477-26 1477-26 NM_001347819.1:c.1477-26C>T p.? p.? 12 11 617513 -26 3' 83.6461 X.44 0.950675 VII.12 83.6461 X.44 0.950675 7.49805 0 50953565 -13.8503 rs374631622 yes no Frequency 1 G 0.000000 0 0.000291 0.000000 0.000000 0.000000 0.000000 0.000000 0.000619 0.000081 0.000000 0.000619 80 0 0 0 0 0 78 2 0 275220 24030 34404 10106 18864 30740 126054 24578 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 0 0 0 0 0 78 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 6 0 6 0.000697674 0 0.000461326 0.000697674 0 0.000461326 51 transition C T C>T 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . 0.1994 . . . . . . . . 3.236e-04 . . . 0 0.0003 0 0 0 0.0005 0 0 0 0.0003 0 0 0.0003 0.0006 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.18 182 ENSG00000197444 OGDHL OGDHL . . . . . . 18 0.000277025 64976 18 0.00030007 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374631622 . . . . . . . . . . . . . . . . . . . . . . . 0.000461 . . . . . 0 0.0003 0 0 0 9.486e-05 0.0006 0 0 0 0.0002 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0007 . . rs374631622 . 1 1538 10 1/0 0,250,255 +rs138163999 10 51093134 C G - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51093134 51093134 Chr10(GRCh37):g.51093134C>G 1830+115 1830+115 NM_003631.2:c.1830+115G>C p.? p.? 8 8 603501 115 5' 90.1244 8.02288 0.969954 0 90.1244 8.02288 0.969954 0 0 rs138163999 yes no Frequency/1000G 2 C 0.000000 0 0.012580 0.034000 0.010200 0.004000 0.001000 0.004300 0.007249 0.023831 0.000000 0.000000 0.003722 0.000000 0.000467 0.000287 0.003061 0.023831 224 207 0 0 6 0 7 1 3 30900 8686 834 302 1612 0 14996 3490 980 0.008929 0.009662 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 220 203 0 0 6 0 7 1 3 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion G C G>C 0.008 -1.247 255 PASS 0.05 0.01 0.01 0.0017 . 0.034 0.013 0.0043 0.004 0.001 0.01 . . . . . 0.4117647 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . -0.6596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0126 . . . 0.31 0.23 182 ENSG00000227345 PARG PARG . . . . . . 154 0.00237011 64976 96 0.00160037 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0238 0.0072 0 0 0.0037 0.0003 0.0005 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.05 . . rs138163999 rs138163999 1 1538 10 1/0 0,255,255 +. 10 51226309 T C - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51226309 51226309 Chr10(GRCh37):g.51226309T>C 1456-95594 1456-95594 NM_003631.2:c.1456-95594A>G p.? p.? 5 4 603501 -95594 3' 81.3569 X.15 0.715355 3.56555 81.3569 X.15 0.715355 3.56555 0 Cryptic Donor Strongly Activated 51226314 0.002179 55.2117 3.15872 0.024839 67.3633 0.000780 0.000000 0.001104 0.000000 0.000000 0.001715 0.000000 0.004545 0.000000 0.004545 4 0 1 0 0 2 0 1 0 5130 340 906 90 346 1166 1894 220 168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424181 Haematopoietic and lymphoid tissue 0.001133 3530 transition A G A>G 1.000 2.385 246 PASS . . . . . . . . . . . . . . . . 0.29357797 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . -0.9797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . @ . . . 0.36 0.33 182 ENSG00000174194 AGAP8 PARG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . IV.58 . . . . . 0.230000 . . . . . . . . . . 0 0.0006 0.0011 0 0 0 0 0 0.0017 0 0.0041 0 . 0 0.0089 0 0 . . . . 0.000 0.000000 . . 0.230000 . . 1.0E-246 . . . . . . . . . 0.000 . . rs61855788 rs61855788 rs61855788 rs61855788 1 1538 10 1/0 0,240,255 +. 10 51227102 C T - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51227102 51227102 Chr10(GRCh37):g.51227102C>T 1456-96387 1456-96387 NM_003631.2:c.1456-96387G>A p.? p.? 5 4 603501 -96387 3' 81.3569 X.15 0.715355 3.56555 81.3569 X.15 0.715355 3.56555 0 New Acceptor Site 51227100 4.74271 0.013392 77.4818 0.002191 0.001921 0.002194 0.003636 0.001814 0.001342 0.002869 0.000000 0.003311 0.003636 44 3 10 2 6 5 16 0 2 20084 1562 4558 550 3308 3726 5576 200 604 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 3 10 2 6 5 16 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4418012 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.992 -0.117 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . 0.3578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic intronic . . . @ . . . 0.4 0.33 182 ENSG00000174194 AGAP8 PARG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.5861 0.65 . . . . . . . 0.0019 0.0022 0.0022 0.0037 0.0018 0 0.0028 0.0033 0.0013 0 0.0057 0 0 0 . 0.0067 0 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs3926203 rs3926203 rs3926203 rs3926203 1 1538 10 1/0 0,255,255 +. 10 51246201 C T - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51246201 51246201 Chr10(GRCh37):g.51246201C>T 1456-115486 1456-115486 NM_003631.2:c.1456-115486G>A p.? p.? 5 4 603501 -115486 3' 81.3569 X.15 0.715355 3.56555 81.3569 X.15 0.715355 3.56555 0 New Acceptor Site 51246199 5.02175 0.005493 75.5934 0.000165 0.000000 0.000000 0.000000 0.000000 0.000368 0.000308 0.000000 0.000000 0.000368 6 0 0 0 0 2 4 0 0 36424 4276 5640 870 5684 5428 12990 486 1050 0.500000 0.000000 0.000000 0.000000 0.000000 0.500000 0.500000 0.000000 0.000000 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 82 Exomes transition G A G>A 0.992 1.093 211 PASS . . . . . . . . . . . . . . . . 0.1904762 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.5665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . @ . . . 0.35 0.26 182 ENSG00000174194 AGAP8 PARG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.17 . . . . . . . . . . . . . VI.26 . ENST00000425119 I.38 I.38 . 0.090000 . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0 0.0004 . . . . . . . . . . . . 1.090 1.090000 . . 0.090000 . . 1.0E-211 . . . . . . . . . 1.090 . . . . rs77235195 rs77235195 1 1538 10 1/0 0,255,255 +. 10 51246318 A G - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51246318 51246318 Chr10(GRCh37):g.51246318A>G 1455+115409 1455+115409 NM_003631.2:c.1455+115409T>C p.? p.? 4 4 603501 115409 5' 80.9586 8.53199 0.958882 7.14296 80.9586 8.53199 0.958882 7.14296 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1408 354 52 8 36 0 508 400 50 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 104 Genomes transition T C T>C 0.236 0.044 218 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -1.0599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intronic . . . @ . . . . . . ENSG00000174194 AGAP8 PARG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.11 . . . . . . . . . . . . . III.72 . ENST00000425119 I.38 0.143 . 0.130000 . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . 0.036 0.036000 . . 0.130000 . . 1.0E-218 . . . . . . . . . 0.036 . . . . . . 1 1538 10 1/0 0,255,255 +. (chr10:51363169 T/C) 10 51363169 T C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363169 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363169 51363169 Chr10(GRCh37):g.51363169T>C 213-1259 213-1259 NR_029388.2:n.213-1259A>G p.? p.? 2 1 -1259 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000462 0.000000 0.001989 0.000000 0.000000 0.001170 0.000000 0.000000 0.001767 0.001989 21 0 8 0 0 11 0 0 2 45424 976 4022 2100 4106 9404 17352 6332 1132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 0 8 0 0 11 0 0 2 0 0 0 0 0 0 0 0 0 RF 42 Exomes transition A G A>G 0.472 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 153.0 . . . . . . . . . . 0.4863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.65 0.56 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0020 0 0 0 0 0.0018 0.0012 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11510886 rs11510886 rs11510886 rs11510886 1 1538 10 1/0 0,234,250 +. (chr10:51363227 A/G) 10 51363227 A G Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363227 A G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363227 51363227 Chr10(GRCh37):g.51363227A>G 213-1317 213-1317 NR_029388.2:n.213-1317T>C p.? p.? 2 1 -1317 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000476 0.000000 0.001493 0.000000 0.000227 0.001275 0.000000 0.000000 0.001147 0.001493 15 0 6 0 1 7 0 0 1 31486 1110 4020 1142 4408 5490 12380 2064 872 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 6 0 1 7 0 0 1 0 0 0 0 0 0 0 0 0 RF 52 Exomes transition T C T>C 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.47196263 . . @ 101 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 214.0 . . . . . . . . . . -0.0981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.56 0.46 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0015 0 0.0002 0 0 0.0011 0.0013 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11516609 rs11516609 rs11516609 rs11516609 1 1538 10 1/0 0,222,238 +. (chr10:51363249 A/G) 10 51363249 A G Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363249 A G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363249 51363249 Chr10(GRCh37):g.51363249A>G 213-1339 213-1339 NR_029388.2:n.213-1339T>C p.? p.? 2 1 -1339 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000444 0.000000 0.001694 0.000000 0.000000 0.000996 0.000086 0.000000 0.000000 0.001694 13 0 7 0 0 5 1 0 0 29280 1146 4132 1036 4484 5018 11592 1026 846 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 7 0 0 5 1 0 0 0 0 0 0 0 0 0 0 0 RF 53 Exomes transition T C T>C 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.47706422 . . @ 104 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 218.0 . . . . . . . . . . -0.1107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.57 0.41 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0.0017 0 0 0 8.627e-05 0 0.0010 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11510885 rs11510885 rs11510885 rs11510885 1 1538 10 1/0 0,223,241 +. (chr10:51363294 T/C) 10 51363294 T C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363294 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363294 51363294 Chr10(GRCh37):g.51363294T>C 213-1384 213-1384 NR_029388.2:n.213-1384A>G p.? p.? 2 1 -1384 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24732 1044 3530 734 4198 4262 9786 420 758 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 51 Exomes transition A G A>G 1.000 1.658 255 PASS . . . . . . . . . . . . . . . . 0.4826389 . . @ 139 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 288.0 . . . . . . . . . . 0.9637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.64 0.57 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.66 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4641415 rs4641415 rs4641415 rs4641415 1 1538 10 1/0 0,211,227 +. (chr10:51363304 G/A) 10 51363304 G A Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363304 G A - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363304 51363304 Chr10(GRCh37):g.51363304G>A 213-1394 213-1394 NR_029388.2:n.213-1394C>T p.? p.? 2 1 -1394 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000217 0.000000 0.000000 0.000000 0.000000 0.001221 0.000000 0.000000 0.000000 0.001221 5 0 0 0 0 5 0 0 0 23022 984 3212 670 3970 4094 9000 384 708 0.200000 0.000000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes transition C T C>T 0.709 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.4733096 . . @ 133 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 281.0 . . . . . . . . . . 0.2201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.62 0.47 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0 0 0.0012 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4400754 rs4400754 rs4400754 rs4400754 1 1538 10 1/0 0,212,231 +. (chr10:51363348 G/C) 10 51363348 G C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363348 G C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363348 51363348 Chr10(GRCh37):g.51363348G>C 213-1438 213-1438 NR_029388.2:n.213-1438C>G p.? p.? 2 1 -1438 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23546 1064 3140 664 4186 4110 9312 336 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes transversion C G C>G 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.45692885 . . @ 122 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 267.0 . . . . . . . . . . 0.3552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.55 0.35 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4400753 rs4400753 rs4400753 rs4400753 1 1538 10 1/0 0,215,242 +. (chr10:51363391 G/C) 10 51363391 G C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363391 G C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363391 51363391 Chr10(GRCh37):g.51363391G>C 213-1481 213-1481 NR_029388.2:n.213-1481C>G p.? p.? 2 1 -1481 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000041 0.000000 0.000000 0.000000 0.000000 0.000241 0.000000 0.000000 0.000000 0.000241 1 0 0 0 0 1 0 0 0 24490 1080 3110 716 4380 4152 9968 348 736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Exomes COSM3931071 Urinary tract 0.001488 672 transversion C G C>G 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.46320346 . . @ 107 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 231.0 . . . . . . . . . . 0.2277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.62 0.4 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3931071\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . 2.I 0 4.083e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4400752 rs4400752 rs4400752 rs4400752 1 1538 10 1/0 0,223,252 +. 10 51363403 C T - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution synonymous exon GRCh37 51363403 51363403 Chr10(GRCh37):g.51363403C>T 669 669 NM_003631.2:c.669G>A p.Thr223= p.Thr223Thr 3 603501 385 3' 82.1118 X.53 0.98414 6.15117 82.1118 X.53 0.98414 6.15117 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23950 1080 2916 700 4330 4022 9848 342 712 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM3931072 Urinary tract 0.001488 672 transition G A G>A 0.008 -0.279 T Thr ACG 0.116 T Thr ACA 0.280 223 255 PASS . . . . . . . . . . . . . . . . 0.5023474 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 213.0 . . . . . . . . . . 0.1918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.65 0.44 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3931072\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4508161 rs4508161 rs4508161 rs4508161 1 1538 10 1/0 0,230,253 +. 10 51363403 C T - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363403 51363403 Chr10(GRCh37):g.51363403C>T 213-1493 213-1493 NR_029388.2:n.213-1493G>A p.? p.? 2 1 -1493 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23950 1080 2916 700 4330 4022 9848 342 712 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM3931072 Urinary tract 0.001488 672 transition G A G>A 0.008 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.5023474 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 213.0 . . . . . . . . . . 0.1918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.65 0.44 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM3931072\x3bOCCURENCE\x3d1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4508161 rs4508161 rs4508161 rs4508161 1 1538 10 1/0 0,230,253 +. 10 51363491 T C - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution missense exon GRCh37 51363491 51363491 Chr10(GRCh37):g.51363491T>C 581 581 NM_003631.2:c.581A>G p.Asp194Gly p.Asp194Gly 3 603501 297 3' 82.1118 X.53 0.98414 6.15117 82.1118 X.53 0.98414 6.15117 0 New Donor Site 51363492 0.738575 0.209607 68.6486 transition A G A>G 1.000 1.255 D Asp GAT 0.461 G Gly GGT 0.162 194 14 8 Cow -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.37 III.51 unknown 0.0 0.0 217 PASS . . . . . . . . . . . . . . . . 0.20526315 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.211 . @ . . . . . 0 0.183 . . 190.0 . . . . . . . . . . I.67 0.299 1.247 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.409 @ . . . . . . ENSG00000225784 PARG PARG . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.263 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 6 . . . . . . 0.102 . 0.435 . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.269 . . III.66 . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-217 0.980 0.350 . 0.424 0.999 . 0.278 . 0.163 . 0.991 . . . . . 1 1538 10 1/0 0,208,255 +. 10 51363491 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363491 51363491 Chr10(GRCh37):g.51363491T>C 213-1581 213-1581 NR_029388.2:n.213-1581A>G p.? p.? 2 1 -1581 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 New Donor Site 51363492 0.738575 0.209607 68.6486 transition A G A>G 1.000 1.255 217 PASS . . . . . . . . . . . . . . . . 0.20526315 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.211 . @ . . . . . 0 0.183 . . 190.0 . . . . . . . . . . I.67 0.299 1.247 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.409 @ . . . . . . ENSG00000225784 PARG PARG . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.263 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 6 . . . . . . 0.102 . 0.435 . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.269 . . III.66 . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-217 0.980 0.350 . 0.424 0.999 . 0.278 . 0.163 . 0.991 . . . . . 1 1538 10 1/0 0,208,255 +. (chr10:51363659 A/G) 10 51363659 A G Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51363659 A G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51363659 51363659 Chr10(GRCh37):g.51363659A>G 213-1749 213-1749 NR_029388.2:n.213-1749T>C p.? p.? 2 1 -1749 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 COSM5021665 Bone 0.001757 569 transition T C T>C 0.654 1.577 255 PASS . . . . . . . . . . . . . . . . 0.5307692 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 130.0 . . . . . . . . . . 0.9306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.72 0.56 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4412715 rs4412715 rs4412715 rs4412715 1 1538 10 1/0 0,255,255 +. (chr10:51364707 G/T) 10 51364707 G T Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51364707 G T - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51364707 51364707 Chr10(GRCh37):g.51364707G>T 213-2797 213-2797 NR_029388.2:n.213-2797C>A p.? p.? 2 1 -2797 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM5428576 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C A C>A 1.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.41025642 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 39.0 . . . . . . . . . . 0.5369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.58 0.4 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4362101 rs4362101 rs4362101 rs4362101 1 1538 10 1/0 0,255,255 +. (chr10:51364733 C/T) 10 51364733 C T Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51364733 C T - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51364733 51364733 Chr10(GRCh37):g.51364733C>T 213-2823 213-2823 NR_029388.2:n.213-2823G>A p.? p.? 2 1 -2823 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM5428577 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.992 1.255 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 36.0 . . . . . . . . . . 1.0833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.73 0.59 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4362100 rs4362100 rs4362100 rs4362100 1 1538 10 1/0 0,255,255 +. (chr10:51364758 T/C) 10 51364758 T C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51364758 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51364758 51364758 Chr10(GRCh37):g.51364758T>C 213-2848 213-2848 NR_029388.2:n.213-2848A>G p.? p.? 2 1 -2848 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM5428064 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 1.000 1.013 255 PASS . . . . . . . . . . . . . PARG:NM_003631:exon2:c.A231G:p.K77K . . 0.3888889 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 36.0 . . . . . . . . . . 0.8924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.71 0.51 182 ENSG00000225784 PARG PARG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.86 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4542358 rs4542358 rs4542358 rs4542358 1 1538 10 1/0 0,255,255 +. 10 51364775 T TA - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 duplication splice site GRCh37 51364775 51364776 Chr10(GRCh37):g.51364776dup 218-5 218-5 NM_003631.2:c.218-5dup p.? p.? 2 1 603501 -4 3' 86.5899 6.06309 0.982649 2.91719 87.2784 7.51228 0.993878 3.88959 0.0861319 rs200352820 yes no Frequency/1000G 2 0.000000 0 T 255 Pass 0.95 0.97 0.95 0.98 0.98 . . . . . . . . . . . 0.36363637 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200352820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.98 . . rs200352820 rs200352820 1 1538 10 1.I 0,11,44 +. 10 51364775 T TA - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 duplication intron GRCh37 51364775 51364776 Chr10(GRCh37):g.51364776dup 213-2866 213-2866 NR_029388.2:n.213-2866dup p.? p.? 2 1 -2865 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 rs200352820 yes no Frequency/1000G 2 0.000000 0 T 255 Pass 0.95 0.97 0.95 0.98 0.98 . . . . . . . . . . . 0.36363637 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200352820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.98 . . rs200352820 rs200352820 1 1538 10 1.I 0,11,44 +. 10 51364805 C A - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution intron GRCh37 51364805 51364805 Chr10(GRCh37):g.51364805C>A 218-34 218-34 NM_003631.2:c.218-34G>T p.? p.? 2 1 603501 -34 3' 86.5899 6.06309 0.982649 2.91719 86.5899 6.06309 0.982649 3.1376 0 Cryptic Acceptor Strongly Activated 51364800 4.29719 0.038159 85.341 VII.94 0.657766 89.0928 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G T G>T 0.008 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . 0.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.14 182 . LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4457707 rs4457707 rs4457707 rs4457707 1 1538 10 1/0 0,0,0 +. 10 51364805 C A - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51364805 51364805 Chr10(GRCh37):g.51364805C>A 213-2895 213-2895 NR_029388.2:n.213-2895G>T p.? p.? 2 1 -2895 3' 74.5651 6.37788 0.551703 1.23451 74.5651 6.37788 0.551703 1.23451 0 Cryptic Acceptor Strongly Activated 51364800 4.29719 0.038159 85.341 VII.94 0.657766 89.0928 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G T G>T 0.008 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.3809524 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . 0.1562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.46 0.14 182 . LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4457707 rs4457707 rs4457707 rs4457707 1 1538 10 1/0 0,0,0 +. (chr10:51370889 T/C) 10 51370889 T C Transcript NM_003631.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) PARG +. 10 51370889 T C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution intron GRCh37 51370889 51370889 Chr10(GRCh37):g.51370889T>C 212+244 212+244 NR_029388.2:n.212+244A>G p.? p.? 1 1 244 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.79578 0 0.000121 0.000476 0.000000 0.000000 0.000142 0.000144 0.000095 0.000000 0.000000 0.000476 10 4 0 0 1 2 3 0 0 82378 8400 7380 2960 7024 13894 31734 8804 2182 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 1 0 0 0 0 0 1 0 0 8 4 0 0 1 2 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424468 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.921 -0.279 228 PASS . . . . . . . . . . . . . . . . 0.2345679 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 324.0 . . . . . . . . . . I.88 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.46 0.44 182 . PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 0.0001 0 0.0001 0.0005 0.0002 0 0 0.0013 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61848833 rs61848833 rs61848833 rs61848833 1 1538 10 1/0 0,188,255 +. 10 51370889 T C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution upstream GRCh37 51370889 51370889 Chr10(GRCh37):g.51370889T>C -652 -652 NM_001290117.1:c.-652T>C p.? p.? 1 -758 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 0.000121 0.000476 0.000000 0.000000 0.000142 0.000144 0.000095 0.000000 0.000000 0.000476 10 4 0 0 1 2 3 0 0 82378 8400 7380 2960 7024 13894 31734 8804 2182 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 1 0 0 0 0 0 1 0 0 8 4 0 0 1 2 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424468 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.921 -0.279 228 PASS . . . . . . . . . . . . . . . . 0.2345679 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 324.0 . . . . . . . . . . I.88 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.46 0.44 182 . PARG PARG . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0001 0 0 0 0 0.0001 0 0.0001 0.0005 0.0002 0 0 0.0013 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs61848833 rs61848833 rs61848833 rs61848833 1 1538 10 1/0 0,188,255 +. 10 51371103 GC G - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 deletion 5'UTR GRCh37 51371104 51371104 Chr10(GRCh37):g.51371104del -34 -34 NM_003631.2:c.-34del p.? p.? 1 603501 -251 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 G 255 Pass . . . . . . . . . . . . . . . . 0.25827813 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67076457 rs67076457 rs67076457 1 1538 10 1.I 0,9,59 +. 10 51371103 GC G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 deletion intron GRCh37 51371104 51371104 Chr10(GRCh37):g.51371104del 212+29 212+29 NR_029388.2:n.212+29del p.? p.? 1 1 29 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.74609 0 G 255 Pass . . . . . . . . . . . . . . . . 0.25827813 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67076457 rs67076457 rs67076457 1 1538 10 1.I 0,9,59 +. 10 51371103 GC G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 deletion upstream GRCh37 51371107 51371107 Chr10(GRCh37):g.51371107del -434 -434 NM_001290117.1:c.-434del p.? p.? 1 -540 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 C 255 Pass . . . . . . . . . . . . . . . . 0.25827813 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67076457 rs67076457 rs67076457 1 1538 10 1.I 0,9,59 +. 10 51371122 AT A - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 deletion 5'UTR GRCh37 51371123 51371123 Chr10(GRCh37):g.51371123del -53 -53 NM_003631.2:c.-53del p.? p.? 1 603501 -270 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 A 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67809162 rs67809162 rs67809162 1 1538 10 1.I 0,11,48 +. 10 51371122 AT A - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 deletion intron GRCh37 51371123 51371123 Chr10(GRCh37):g.51371123del 212+10 212+10 NR_029388.2:n.212+10del p.? p.? 1 1 10 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 7.75556 0 A 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67809162 rs67809162 rs67809162 1 1538 10 1.I 0,11,48 +. 10 51371122 AT A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 deletion upstream GRCh37 51371125 51371125 Chr10(GRCh37):g.51371125del -416 -416 NM_001290117.1:c.-416del p.? p.? 1 -522 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 T 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000244393 LOC728407 PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67809162 rs67809162 rs67809162 1 1538 10 1.I 0,11,48 +. 10 51371131 A AC - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 duplication 5'UTR GRCh37 51371131 51371132 Chr10(GRCh37):g.51371132dup -62 -62 NM_003631.2:c.-62dup p.? p.? 1 603501 -278 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 New Donor Site 51371132 5.01732 0.942015 80.857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1456 352 24 12 76 0 730 214 48 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 103 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.3255814 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing splicing ncRNA_splicing . . . . . . . . . . ENSG00000244393\x3bENSG00000244393 PARG PARGP1 ENST00000399508:exon1:c.168+2->G uc009xoj.3:exon1:c.47+2->G NR_029388:exon1:c.212+2->G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +. 10 51371131 A AC - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 duplication splice site GRCh37 51371131 51371132 Chr10(GRCh37):g.51371132dup 212+1 212+1 NR_029388.2:n.212+1dup p.? p.? 1 1 1 5' 90.1244 8.02288 0.975766 6.79578 0 0 0 0 -1 New Donor Site 51371132 5.01732 0.942015 80.857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1456 352 24 12 76 0 730 214 48 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 103 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.3255814 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing splicing ncRNA_splicing . . . . . . . . . . ENSG00000244393\x3bENSG00000244393 PARG PARGP1 ENST00000399508:exon1:c.168+2->G uc009xoj.3:exon1:c.47+2->G NR_029388:exon1:c.212+2->G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +. 10 51371131 A AC - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 duplication upstream GRCh37 51371133 51371134 Chr10(GRCh37):g.51371133dup -408 -408 NM_001290117.1:c.-408dup p.? p.? 1 -513 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1456 352 24 12 76 0 730 214 48 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 103 Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.3255814 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing splicing ncRNA_splicing . . . . . . . . . . ENSG00000244393\x3bENSG00000244393 PARG PARGP1 ENST00000399508:exon1:c.168+2->G uc009xoj.3:exon1:c.47+2->G NR_029388:exon1:c.212+2->G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +. 10 51371153 G C - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution 5'UTR GRCh37 51371153 51371153 Chr10(GRCh37):g.51371153G>C -83 -83 NM_003631.2:c.-83C>G p.? p.? 1 603501 -300 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1994 478 46 14 84 0 888 422 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 82 Genomes transversion C G C>G 0.630 0.205 255 PASS . . . . . . . . . . . . PARG:uc009xoj.3:exon1:c.C27G:p.D9E . . . 0.3275862 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . I.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.62 0.42 182 ENSG00000244393 PARG PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61848834 rs61848834 rs61848834 rs61848834 1 1538 10 1/0 0,240,255 +. 10 51371153 G C - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution exon GRCh37 51371153 51371153 Chr10(GRCh37):g.51371153G>C 192 192 NR_029388.2:n.192C>G 1 -21 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.1032 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1994 478 46 14 84 0 888 422 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 82 Genomes transversion C G C>G 0.630 0.205 255 PASS . . . . . . . . . . . . PARG:uc009xoj.3:exon1:c.C27G:p.D9E . . . 0.3275862 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . I.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.62 0.42 182 ENSG00000244393 PARG PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61848834 rs61848834 rs61848834 rs61848834 1 1538 10 1/0 0,240,255 +. 10 51371153 G C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution upstream GRCh37 51371153 51371153 Chr10(GRCh37):g.51371153G>C -388 -388 NM_001290117.1:c.-388G>C p.? p.? 1 -494 5' 77.7282 9.92994 0.983936 7.49874 77.7282 9.92994 0.983936 7.49874 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1994 478 46 14 84 0 888 422 62 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 82 Genomes transversion G C G>C 0.630 0.205 255 PASS . . . . . . . . . . . . PARG:uc009xoj.3:exon1:c.C27G:p.D9E . . . 0.3275862 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . I.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.62 0.42 182 ENSG00000244393 PARG PARGP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61848834 rs61848834 rs61848834 rs61848834 1 1538 10 1/0 0,240,255 +. 10 51371565 A G - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution upstream GRCh37 51371565 51371565 Chr10(GRCh37):g.51371565A>G -495 -495 NM_003631.2:c.-495T>C p.? p.? 1 603501 -712 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000175 0.000000 0.000000 0.000175 1 0 0 0 0 0 1 0 0 13828 172 1224 354 460 2344 5706 3228 340 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 51 Exomes transition T C T>C 0.913 0.125 211 PASS . . . . . . . . . . . . . . . . 0.21097046 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 237.0 . . . . . . . . . . -0.7590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.73 0.63 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.15 . . . . . . . . . . . . . III.01 . . II.62 I.44 . 0.650000 . . . . . . . . . . 0 7.232e-05 0 0 0 0 0.0002 0 0 . . . . . . . . . . . . 0.247 0.247000 . . 0.650000 . . 1.0E-211 . . . . . . . . . 0.247 . . rs4935253 rs4935253 rs4935253 rs4935253 1 1538 10 1/0 0,200,255 +. 10 51371565 A G - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution upstream GRCh37 51371565 51371565 Chr10(GRCh37):g.51371565A>G -221 -221 NR_029388.2:n.-221T>C p.? p.? 1 -433 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.79578 0 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000175 0.000000 0.000000 0.000175 1 0 0 0 0 0 1 0 0 13828 172 1224 354 460 2344 5706 3228 340 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 51 Exomes transition T C T>C 0.913 0.125 211 PASS . . . . . . . . . . . . . . . . 0.21097046 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 237.0 . . . . . . . . . . -0.7590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.73 0.63 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.15 . . . . . . . . . . . . . III.01 . . II.62 I.44 . 0.650000 . . . . . . . . . . 0 7.232e-05 0 0 0 0 0.0002 0 0 . . . . . . . . . . . . 0.247 0.247000 . . 0.650000 . . 1.0E-211 . . . . . . . . . 0.247 . . rs4935253 rs4935253 rs4935253 rs4935253 1 1538 10 1/0 0,200,255 +. (chr10:51371565 A/G) 10 51371565 A G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51371581 G T - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution upstream GRCh37 51371581 51371581 Chr10(GRCh37):g.51371581G>T -511 -511 NM_003631.2:c.-511C>A p.? p.? 1 603501 -728 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 0.000054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000119 0.000000 0.000000 0.000119 1 0 0 0 0 0 1 0 0 18358 258 1480 536 628 2912 8372 3724 448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.984 2.304 202 PASS . . . . . . . . . . . . . . . . 0.16479401 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 267.0 . . . . . . . . . . -0.2399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.62 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.13 . . . . . . . . . . . . . IX.15 . . II.62 1.VII . 0.200000 . . . . . . . . . . 0 5.794e-05 0 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . 0.441 0.441000 . . 0.200000 . . 1.0E-202 . . . . . . . . . 0.441 . . rs61847112 rs61847112 rs61847112 rs61847112 1 1538 10 1/0 0,190,255 +. 10 51371581 G T - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution upstream GRCh37 51371581 51371581 Chr10(GRCh37):g.51371581G>T -237 -237 NR_029388.2:n.-237C>A p.? p.? 1 -449 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.79578 0 0.000054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000119 0.000000 0.000000 0.000119 1 0 0 0 0 0 1 0 0 18358 258 1480 536 628 2912 8372 3724 448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.984 2.304 202 PASS . . . . . . . . . . . . . . . . 0.16479401 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 267.0 . . . . . . . . . . -0.2399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.62 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.13 . . . . . . . . . . . . . IX.15 . . II.62 1.VII . 0.200000 . . . . . . . . . . 0 5.794e-05 0 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . 0.441 0.441000 . . 0.200000 . . 1.0E-202 . . . . . . . . . 0.441 . . rs61847112 rs61847112 rs61847112 rs61847112 1 1538 10 1/0 0,190,255 +. (chr10:51371581 G/T) 10 51371581 G T Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +rs782610237 10 51371608 G A - PARG 8605 Poly (ADP-ribose) glycohydrolase NM_003631.2 -1 4253 2931 NP_003622.2 Q86W56 substitution upstream GRCh37 51371608 51371608 Chr10(GRCh37):g.51371608G>A -538 -538 NM_003631.2:c.-538C>T p.? p.? 1 603501 -755 5' 76.5756 8.10875 0.928654 IX.85 76.5756 8.10875 0.928654 IX.85 0 rs782610237 yes no Frequency 1 G 0.000000 0 0.000048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000099 0.000000 0.000000 0.000099 1 0 0 0 0 0 1 0 0 20848 374 1530 636 648 3054 10070 4006 530 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.992 2.062 183 PASS . . . . . . . . . . . . . . . . 0.118705034 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 278.0 . . . . . . . . . . 0.1944 . . . . . . . . 3.542e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.67 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.04 rs782610237 . . . . . . ID\x3dCOSM3675786\x3bOCCURENCE\x3d1(urinary_tract) . . . . . XII.25 . . II.62 II.62 . 0.300000 . . . . . . . . . II.62 0 5.39e-05 0 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . 1.467 1.467000 . . 0.300000 . . 1.0E-183 . . . . . . . . . 1.467 . . rs4935252 rs4935252 rs4935252 rs4935252 1 1538 10 1/0 0,184,255 +rs782610237 10 51371608 G A - PARGP1 45008 Poly(ADP-ribose) glycohydrolase pseudogene 1 NR_029388.2 -1 1448 0 substitution upstream GRCh37 51371608 51371608 Chr10(GRCh37):g.51371608G>A -264 -264 NR_029388.2:n.-264C>T p.? p.? 1 -476 5' 90.1244 8.02288 0.975766 6.79578 90.1244 8.02288 0.975766 6.79578 0 rs782610237 yes no Frequency 1 G 0.000000 0 0.000048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000099 0.000000 0.000000 0.000099 1 0 0 0 0 0 1 0 0 20848 374 1530 636 648 3054 10070 4006 530 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.992 2.062 183 PASS . . . . . . . . . . . . . . . . 0.118705034 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 278.0 . . . . . . . . . . 0.1944 . . . . . . . . 3.542e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.76 0.67 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.04 rs782610237 . . . . . . ID\x3dCOSM3675786\x3bOCCURENCE\x3d1(urinary_tract) . . . . . XII.25 . . II.62 II.62 . 0.300000 . . . . . . . . . II.62 0 5.39e-05 0 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . 1.467 1.467000 . . 0.300000 . . 1.0E-183 . . . . . . . . . 1.467 . . rs4935252 rs4935252 rs4935252 rs4935252 1 1538 10 1/0 0,184,255 +rs782610237 (chr10:51371608 G/A) 10 51371608 G A Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51381403 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51381403 51381403 Chr10(GRCh37):g.51381403G>A 166-36 166-36 NM_001290117.1:c.166-36G>A p.? p.? 3 2 -36 3' 88.9719 X.82 0.980737 7.10226 88.9719 X.82 0.980737 6.85115 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.000 -0.117 206 PASS . . . . . . . . . . . . . . . . 0.17777778 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.1486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.3 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . rs71197680 rs71197680 rs71197680 1 1538 10 1/0 0,255,255 +. (chr10:51381453 T/C) 10 51381453 T C Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. (chr10:51381481 C/T) 10 51381481 C T Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. (chr10:51381519 A/G) 10 51381519 A G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51381730 CT C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 deletion intron GRCh37 51381733 51381733 Chr10(GRCh37):g.51381733del 260-29 260-29 NM_001290117.1:c.260-29del p.? p.? 4 3 -29 3' 86.1023 4.73281 0.475972 0 86.1023 4.73281 0.475972 0 0 T 255 Pass . . . . . . . . . . . . . . . . 0.53125 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,27 +. 10 51381747 G T - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51381747 51381747 Chr10(GRCh37):g.51381747G>T 260-15 260-15 NM_001290117.1:c.260-15G>T p.? p.? 4 3 -15 3' 86.1023 4.73281 0.475972 0 86.1023 5.71553 0.68308 0 0.214256 Cryptic Acceptor Strongly Activated 51381762 4.73281 0.475972 86.1023 5.71553 0.68308 86.1023 transversion G T G>T 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.4680851 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.0116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.34 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849496 rs61849496 rs61849496 rs61849496 1 1538 10 1/0 0,255,255 +. (chr10:51381775 T/G) 10 51381775 T G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. (chr10:51381836 A/G) 10 51381836 A G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51384373 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51384373 51384373 Chr10(GRCh37):g.51384373A>G 403+16 403+16 NM_001290117.1:c.403+16A>G p.? p.? 5 5 16 5' 86.9112 X.85 0.995119 0 86.9112 X.85 0.995119 0 0 transition A G A>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.65957445 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.0021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.3 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849527 rs61849527 rs61849527 rs61849527 1 1538 10 1/0 0,255,255 +. 10 51384388 G GTTAAC - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 insertion intron GRCh37 51384392 51384393 Chr10(GRCh37):g.51384392_51384393insCTTAA 403+35 403+36 NM_001290117.1:c.403+35_403+36insCTTAA p.? p.? 5 5 35 5' 86.9112 X.85 0.995119 0 86.9112 X.85 0.995119 0 0 Cryptic Acceptor Strongly Activated 51384395 0.430085 0.000448 67.0095 2.21921 0.001685 78.0879 CTTAA 255 Pass . . . . . . . . . . . . . . . . 0.5952381 . . . 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +. (chr10:51387654 T/G) 10 51387654 T G Transcript NM_001290117.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TIMM23B +. 10 51388204 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51388204 51388204 Chr10(GRCh37):g.51388204G>A 514+441 514+441 NM_001290117.1:c.514+441G>A p.? p.? 6 6 441 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 transition G A G>A 0.783 0.448 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.1790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . 0.39 0.14 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4962281 rs4962281 rs4962281 rs4962281 1 1538 10 1/0 0,255,255 +. 10 51388212 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51388212 51388212 Chr10(GRCh37):g.51388212A>G 514+449 514+449 NM_001290117.1:c.514+449A>G p.? p.? 6 6 449 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 Cryptic Acceptor Strongly Activated 51388221 3.64594 0.065303 74.1706 5.52722 0.096253 74.4263 transition A G A>G 0.799 0.205 255 PASS . . . . . . . . . . . . . . . . 0.46875 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.2921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . 0.41 0.17 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4962282 rs4962282 rs4962282 rs4962282 1 1538 10 1/0 0,255,255 +. 10 51388267 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51388267 51388267 Chr10(GRCh37):g.51388267A>G 514+504 514+504 NM_001290117.1:c.514+504A>G p.? p.? 6 6 504 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 transition A G A>G 0.008 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.3356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . 0.36 0.15 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4962283 rs4962283 rs4962283 rs4962283 1 1538 10 1/0 0,255,255 +. 10 51388287 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51388287 51388287 Chr10(GRCh37):g.51388287G>A 514+524 514+524 NM_001290117.1:c.514+524G>A p.? p.? 6 6 524 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 transition G A G>A 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.4840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic intronic . . . @ . . . 0.33 0.19 182 ENSG00000204152 . TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4962284 rs4962284 rs4962284 rs4962284 1 1538 10 1/0 0,255,255 +rs41274660 10 51549533 T G - MSMB 7372 Microseminoprotein, beta- NM_002443.3 1 494 345 NP_002434.1 P08118 substitution upstream GRCh37 51549533 51549533 Chr10(GRCh37):g.51549533T>G -52 -52 NM_002443.3:c.-52T>G p.? p.? 1 157145 -55 5' 81.1016 8.60125 0.940053 2.71467 81.1016 8.60125 0.940053 3.14074 0 rs41274660 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000000 0.002000 0.000000 0.011900 0.004300 0.007134 0.002290 0.004773 0.029801 0.000000 0.000000 0.011062 0.004007 0.008147 0.029801 221 20 4 9 0 0 166 14 8 30978 8734 838 302 1622 0 15006 3494 982 0.004525 0.000000 0.000000 0.111111 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 219 20 4 7 0 0 166 14 8 0 0 0 0 0 0 0 0 0 PASS 45 Genomes 7050 3127 10177 114 9 123 0.0159129 0.0028699 0.0119417 0.0159129 0.0028699 0.0119417 142 transversion T G T>G 0.000 -1.328 255 PASS . 0.0046 0.01 . 0.01 . 0.0034 0.0043 . 0.012 0.002 . . . . . 0.5591398 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . 0.0029 0.012 0.016 0.0029 0.012 0.016 . -0.1155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . 0.0034 . . . 0.45 0.59 182 ENSG00000138294 . TIMM23B ENST00000358559:c.-52T>G . . . . . 736 0.0113273 64976 719 0.0119861 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41274660 . . . . . . . . . . . . . . . . . . . . . . . 0.011942 . . . . . . . . . . . . . . 0.0023 0.0071 0.0048 0.0298 0 0.0040 0.0111 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.016 rs41274660 rs41274660 rs41274660 rs41274660 1 1538 10 1/0 0,255,255 +rs41274660 10 51549533 T G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51549533 51549533 Chr10(GRCh37):g.51549533T>G 514+161770 514+161770 NM_001290117.1:c.514+161770T>G p.? p.? 6 6 161770 5' 95.6376 X.36 0.995937 15.6949 95.6376 X.36 0.995937 15.6949 0 rs41274660 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000000 0.002000 0.000000 0.011900 0.004300 0.007134 0.002290 0.004773 0.029801 0.000000 0.000000 0.011062 0.004007 0.008147 0.029801 221 20 4 9 0 0 166 14 8 30978 8734 838 302 1622 0 15006 3494 982 0.004525 0.000000 0.000000 0.111111 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 219 20 4 7 0 0 166 14 8 0 0 0 0 0 0 0 0 0 PASS 45 Genomes 7050 3127 10177 114 9 123 0.0159129 0.0028699 0.0119417 0.0159129 0.0028699 0.0119417 142 transversion T G T>G 0.000 -1.328 255 PASS . 0.0046 0.01 . 0.01 . 0.0034 0.0043 . 0.012 0.002 . . . . . 0.5591398 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . 0.0029 0.012 0.016 0.0029 0.012 0.016 . -0.1155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . 0.0034 . . . 0.45 0.59 182 ENSG00000138294 . TIMM23B ENST00000358559:c.-52T>G . . . . . 736 0.0113273 64976 719 0.0119861 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41274660 . . . . . . . . . . . . . . . . . . . . . . . 0.011942 . . . . . . . . . . . . . . 0.0023 0.0071 0.0048 0.0298 0 0.0040 0.0111 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.016 rs41274660 rs41274660 rs41274660 rs41274660 1 1538 10 1/0 0,255,255 +. 10 51610357 T TTTAAG - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 insertion intron GRCh37 51610357 51610358 Chr10(GRCh37):g.51610357_51610358insTTAAG 403+35 403+36 NM_006327.3:c.403+35_403+36insCTTAA p.? p.? 5 5 605034 35 5' 86.9112 X.85 0.995119 0 86.9112 X.85 0.995119 0 0 Cryptic Acceptor Strongly Activated 51610355 0.430085 0.000448 67.0095 2.21921 0.001685 78.0879 rs371357578 no no 0 0.000000 0 CTTAA 255 Pass . . . . . . . . . . . . . . . . 0.4878049 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,31 +. 10 51610357 T TTTAAG - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 insertion intron GRCh37 51610361 51610362 Chr10(GRCh37):g.51610361_51610362insGTTAA 515-122411 515-122410 NM_001290117.1:c.515-122411_515-122410insGTTAA p.? p.? 7 6 -122410 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 New Acceptor Site 51610363 7.02122 0.768117 80.5928 rs371357578 no no 0 0.000000 0 GTTAA 255 Pass . . . . . . . . . . . . . . . . 0.4878049 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,31 +rs61849527 10 51610377 T C - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution intron GRCh37 51610377 51610377 Chr10(GRCh37):g.51610377T>C 403+16 403+16 NM_006327.3:c.403+16A>G p.? p.? 5 5 605034 16 5' 86.9112 X.85 0.995119 0 86.9112 X.85 0.995119 0 0 rs61849527 no no 0 T 0.000000 0 transition A G A>G 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.0358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.4 182 ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849527 rs61849527 rs61849527 rs61849527 1 1538 10 1/0 0,255,255 +rs61849527 10 51610377 T C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51610377 51610377 Chr10(GRCh37):g.51610377T>C 515-122395 515-122395 NM_001290117.1:c.515-122395T>C p.? p.? 7 6 -122395 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs61849527 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.0358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.4 182 ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849527 rs61849527 rs61849527 rs61849527 1 1538 10 1/0 0,255,255 +rs61849495 10 51613231 T C - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution synonymous exon GRCh37 51613231 51613231 Chr10(GRCh37):g.51613231T>C 246 246 NM_006327.3:c.246A>G p.Gly82= p.Gly82Gly 3 605034 -14 5' 95.6376 X.36 0.994306 3.04306 95.6376 X.36 0.994306 2.32467 0 Cryptic Acceptor Strongly Activated 51613217 4.12043 0.008734 80.0802 4.82753 0.016496 80.2981 Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24 Mitochondrial inner membrane translocase complex, subunit Tim23 rs61849495 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 1.000 0.367 G Gly GGA 0.246 G Gly GGG 0.250 82 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.A246G:p.G82G . . 0.46478873 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 71.0 . . . . . . . . . . 1.1577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.71 0.46 182 ENSG00000138297 TIMM23 TIMM23 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849495 rs61849495 rs61849495 rs61849495 1 1538 10 1/0 0,255,255 +rs61849495 10 51613231 T C - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51613231 51613231 Chr10(GRCh37):g.51613231T>C 515-119541 515-119541 NM_001290117.1:c.515-119541T>C p.? p.? 7 6 -119541 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs61849495 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 0.367 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.A246G:p.G82G . . 0.46478873 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 71.0 . . . . . . . . . . 1.1577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.71 0.46 182 ENSG00000138297 TIMM23 TIMM23 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61849495 rs61849495 rs61849495 rs61849495 1 1538 10 1/0 0,255,255 +rs61849494 10 51613269 G A - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution missense exon GRCh37 51613269 51613269 Chr10(GRCh37):g.51613269G>A 208 208 NM_006327.3:c.208C>T p.Arg70Trp p.Arg70Trp 3 605034 43 3' 88.9719 X.82 0.984727 6.98928 88.9719 X.82 0.984727 6.61767 0 Mitochondrial inner membrane translocase complex, subunit Tim23 rs61849494 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.992 1.497 R Arg CGG 0.207 W Trp TGG 1.000 70 12 11 Fruitfly -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C35 26.00 95.78 Deleterious 0 III.19 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.C208T:p.R70W . . 0.45833334 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.0039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.72 0.47 182 ENSG00000138297 TIMM23 TIMM23 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . XII.23 . . IV.61 III.67 . 0.020000 . . . . . . . . . III.67 . . . . . . . . . . . . . . . . . . . . . 1.243 1.243000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 1.243 . . rs61849494 rs61849494 rs61849494 rs61849494 1 1538 10 1/0 0,255,255 +rs61849494 10 51613269 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51613269 51613269 Chr10(GRCh37):g.51613269G>A 515-119503 515-119503 NM_001290117.1:c.515-119503G>A p.? p.? 7 6 -119503 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 New Acceptor Site 51613271 4.82591 0.032969 75.573 rs61849494 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.992 1.497 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.C208T:p.R70W . . 0.45833334 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 72.0 . . . . . . . . . . -0.0039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.72 0.47 182 ENSG00000138297 TIMM23 TIMM23 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . XII.23 . . IV.61 III.67 . 0.020000 . . . . . . . . . III.67 . . . . . . . . . . . . . . . . . . . . . 1.243 1.243000 . . 0.020000 . . 1.0E-255 . . . . . . . . . 1.243 . . rs61849494 rs61849494 rs61849494 rs61849494 1 1538 10 1/0 0,255,255 +rs61849493 10 51613297 A G - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution synonymous exon GRCh37 51613297 51613297 Chr10(GRCh37):g.51613297A>G 180 180 NM_006327.3:c.180T>C p.Phe60= p.Phe60Phe 3 605034 15 3' 88.9719 X.82 0.984727 6.98928 88.9719 X.82 0.980737 7.47386 -0.00135063 Mitochondrial inner membrane translocase complex, subunit Tim23 rs61849493 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 0.932 F Phe TTT 0.454 F Phe TTC 0.546 60 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.T180C:p.F60F . . 0.46551725 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 58.0 . . . . . . . . . . I.67 0.063 1.327 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.387 @ . . . 0.71 0.47 182 ENSG00000138297 TIMM23 TIMM23 . . . 0.000 0.035 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.312 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.47 . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-255 1.000 0.715 . 0.750 . . 0.341 . 0.335 . . . rs61849493 rs61849493 rs61849493 rs61849493 1 1538 10 1/0 0,255,255 +rs61849493 10 51613297 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51613297 51613297 Chr10(GRCh37):g.51613297A>G 515-119475 515-119475 NM_001290117.1:c.515-119475A>G p.? p.? 7 6 -119475 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs61849493 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 1.000 0.932 255 PASS . . . . . . . . . . . . . TIMM23:NM_006327:exon3:c.T180C:p.F60F . . 0.46551725 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 58.0 . . . . . . . . . . I.67 0.063 1.327 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.387 @ . . . 0.71 0.47 182 ENSG00000138297 TIMM23 TIMM23 . . . 0.000 0.035 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.312 . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.47 . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-255 1.000 0.715 . 0.750 . . 0.341 . 0.335 . . . rs61849493 rs61849493 rs61849493 rs61849493 1 1538 10 1/0 0,255,255 +. 10 51613347 C T - TIMM23 17312 Translocase of inner mitochondrial membrane 23 homolog (yeast) NM_006327.3 -1 1226 630 NP_006318.1 O14925 substitution intron GRCh37 51613347 51613347 Chr10(GRCh37):g.51613347C>T 166-36 166-36 NM_006327.3:c.166-36G>A p.? p.? 3 2 605034 -36 3' 88.9719 X.82 0.984727 6.98928 88.9719 X.82 0.984727 6.73818 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.000 -0.037 216 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.1794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.26 182 ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . rs71197680 rs71197680 rs71197680 1 1538 10 1/0 0,255,255 +. 10 51613347 C T - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51613347 51613347 Chr10(GRCh37):g.51613347C>T 515-119425 515-119425 NM_001290117.1:c.515-119425C>T p.? p.? 7 6 -119425 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 0.000 -0.037 216 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.1794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.26 182 ENSG00000138297 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . rs71197680 rs71197680 rs71197680 1 1538 10 1/0 0,255,255 +rs4457707 10 51629952 G T - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51629952 51629952 Chr10(GRCh37):g.51629952G>T 515-102820 515-102820 NM_001290117.1:c.515-102820G>T p.? p.? 7 6 -102820 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 Cryptic Acceptor Strongly Activated 51629957 4.29719 0.038159 85.341 VII.94 0.657766 89.0928 rs4457707 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion G T G>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.375 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.0851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.49 0.16 182 ENSG00000214982 AK294819 TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4457707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4457707 rs4457707 rs4457707 rs4457707 1 1538 10 1/0 0,255,255 +rs4542358 10 51629999 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51629999 51629999 Chr10(GRCh37):g.51629999A>G 515-102773 515-102773 NM_001290117.1:c.515-102773A>G p.? p.? 7 6 -102773 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs4542358 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 1.000 1.658 253 PASS . . . . . . . . . . . . PARG:uc009xop.2:exon2:c.A231G:p.K77K . . . 0.32352942 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . I.64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . 0.67 0.45 182 ENSG00000214982 PARG TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4542358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.93 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs4542358 rs4542358 rs4542358 rs4542358 1 1538 10 1/0 0,255,255 +rs4362100 10 51630024 G A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51630024 51630024 Chr10(GRCh37):g.51630024G>A 515-102748 515-102748 NM_001290117.1:c.515-102748G>A p.? p.? 7 6 -102748 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs4362100 no no 0 G 0.000000 0 transition G A G>A 1.000 1.335 255 PASS . . . . . . . . . . . . PARG:uc009xop.2:exon2:c.G256A:p.E86K . . . 0.35135135 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 1.1088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . 0.77 0.57 182 ENSG00000214982 PARG TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs4362100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.84 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4362100 rs4362100 rs4362100 rs4362100 1 1538 10 1/0 0,255,255 +rs4362101 10 51630050 C A - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51630050 51630050 Chr10(GRCh37):g.51630050C>A 515-102722 515-102722 NM_001290117.1:c.515-102722C>A p.? p.? 7 6 -102722 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 rs4362101 no no 0 C 0.000000 0 transversion C A C>A 1.000 0.609 255 PASS . . . . . . . . . . . . PARG:uc009xop.2:exon2:c.C282A:p.D94E . . . 0.36842105 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.8013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . 0.53 0.36 182 ENSG00000214982 PARG TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs4362101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4362101 rs4362101 rs4362101 rs4362101 1 1538 10 1/0 0,255,255 +. 10 51631266 A G - TIMM23B 23581 Translocase of inner mitochondrial membrane 23 homolog B (yeast) NM_001290117.1 1 2515 567 NP_001277046.1 substitution intron GRCh37 51631266 51631266 Chr10(GRCh37):g.51631266A>G 515-101506 515-101506 NM_001290117.1:c.515-101506A>G p.? p.? 7 6 -101506 3' 81.3695 8.59168 0.955638 6.47058 81.3695 8.59168 0.955638 6.47058 0 New Donor Site 51631265 0.738575 0.209607 68.6486 0.002336 0.000411 0.001809 0.000000 0.005956 0.004308 0.001456 0.001730 0.000000 0.005956 96 2 12 0 39 19 23 1 0 41102 4864 6634 1118 6548 4410 15798 578 1152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 96 2 12 0 39 19 23 1 0 0 0 0 0 0 0 0 0 0 PASS 51 Exomes transition A G A>G 0.976 0.770 223 PASS . . . . . . . . . . . . PARG:uc009xop.2:exon3:c.A581G:p.D194G . . . 0.22289157 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . I.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . . . . ENSG00000214982 PARG TIMM23B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.35 0.0004 0.0023 0.0018 0 0.0060 0.0017 0.0015 0 0.0043 . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +rs2305303 10 51855450 T G - WASHC2A 23416 WASH complex subunit 2A NM_001005751.2 1 4708 4026 NP_001005751.1 Q641Q2 substitution synonymous exon GRCh37 51855450 51855450 Chr10(GRCh37):g.51855450T>G 1332 1332 NM_001005751.2:c.1332T>G p.Gly444= p.Gly444Gly 15 -89 5' 89.8263 9.80181 0.994451 XI.22 89.8263 9.80181 0.994451 XI.22 0 rs2305303 no no 0 T 0.000000 0 0.000936 0.001724 0.000649 0.000000 0.002243 0.001051 0.000946 0.000213 0.001250 0.002243 63 8 5 0 10 9 27 2 2 67278 4640 7704 2386 4458 8564 28532 9394 1600 0.000119 0.000000 0.000000 0.000000 0.000000 0.000934 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 55 8 5 0 10 1 27 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3675806 Haematopoietic and lymphoid tissue 0.000283 3530 transversion T G T>G 0.000 -0.763 G Gly GGT 0.162 G Gly GGG 0.250 444 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 8.0 . . . . . . . . . . 0.0548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.44 182 ENSG00000099290 . FAM21A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0004 0 0.0012 0 0 0.0007 0.0011 0.0065 0.0091 0.0152 0 0.0305 0.0048 0.0095 0.0081 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs2305303 rs2305303 rs2305303 rs2305303 1 1538 255 1.I 0,0,255 +rs3867224 10 51952509 C A - ASAH2 18860 N-acylsphingosine amidohydrolase 2 NM_019893.3 -1 4797 2343 NP_063946.2 Q9NR71 substitution intron GRCh37 51952509 51952509 Chr10(GRCh37):g.51952509C>A 2005-37 2005-37 NM_019893.3:c.2005-37G>T p.? p.? 18 17 611202 -37 3' 98.0914 7.80838 0.91852 2.25758 98.0914 7.80838 0.91852 II.44 0 Cryptic Acceptor Strongly Activated 51952500 0.0332406 0.000288 63.6102 0.813738 0.003905 69.063 rs3867224 yes no Frequency/1000G 2 C 0.000000 0 0.007576 0.007576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.007576 1 1 0 0 0 0 0 0 0 132 132 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 118 Genomes transversion G T G>T 0.000 0.125 111 PASS 0.44 0.8 0.88 0.94 0.9 . . . . . . . . . . . 1.0 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.0981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.19 182 ENSG00000188611 ASAH2 ASAH2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs199967962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0076 0.0076 . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.94 rs3867224 rs3867224 rs3867224 rs199967962 1 1538 255 1.I 0,0,255 +rs569779735 10 51974489 T C - ASAH2 18860 N-acylsphingosine amidohydrolase 2 NM_019893.3 -1 4797 2343 NP_063946.2 Q9NR71 substitution intron GRCh37 51974489 51974489 Chr10(GRCh37):g.51974489T>C 1140+14 1140+14 NM_019893.3:c.1140+14A>G p.? p.? 8 8 611202 14 5' 77.9039 6.58677 0.745439 0 77.9039 6.58677 0.745439 0 0 rs569779735 yes no Frequency/1000G 2 C 0.049321 C 247 0.049321 0.003000 0.035800 0.067500 0.097400 0.060500 0.000487 0.001129 0.000000 0.000639 0.000596 0.000000 0.000329 0.001136 0.000588 0.001136 42 18 0 2 6 0 9 6 1 86254 15946 7340 3130 10066 15448 27338 5284 1702 0.000093 0.000000 0.000000 0.000639 0.000000 0.000000 0.000073 0.000757 0.000000 4 0 0 1 0 0 1 2 0 34 18 0 0 6 0 7 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.682 111 PASS . . . . . 0.003 0.049 0.06 0.068 0.097 0.036 . . . . . 1.0 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . 0.0031 . . . . . . . . 1.521e-03 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0493 . . . 0.44 0.24 182 ENSG00000188611 ASAH2 ASAH2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs569779735 0.326 0.362 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0.0007 0 0.0008 0.0001 0 0 0.0038 0.0037 0 0 0.0090 0.0036 0.0024 0.0054 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.33 rs993868 rs993868 rs993868 rs993868 1 1538 255 1.I 0,0,255 +rs41283690 10 60154213 G A - TFAM 11741 Transcription factor A, mitochondrial NM_003201.2 1 5302 741 NP_003192.1 Q00059 substitution intron GRCh37 60154213 60154213 Chr10(GRCh37):g.60154213G>A 594+39 594+39 NM_003201.2:c.594+39G>A p.? p.? 6 6 600438 39 5' 80.4469 7.97184 0.958589 2.45281 80.4469 7.97184 0.958589 2.01282 0 rs41283690 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.004100 0.000000 0.012900 0.002900 0.007461 0.002413 0.004823 0.000296 0.000689 0.004711 0.012490 0.001861 0.008199 0.012490 2068 58 166 3 13 145 1582 48 53 277170 24034 34418 10150 18868 30782 126662 25792 6464 0.000065 0.000000 0.000000 0.000000 0.000000 0.000065 0.000126 0.000000 0.000000 9 0 0 0 0 1 8 0 0 2050 58 166 3 13 143 1566 48 53 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8498 4396 12894 102 10 112 0.0118605 0.00226963 0.00861141 0.0118605 0.00226963 0.00861141 74 transition G A G>A 0.000 1.174 255 PASS . 0.01 0.01 . 0.02 . 0.0038 0.0029 . 0.013 0.0041 UNKNOWN . . . . 0.4893617 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . 0.0023 0.0086 0.012 0.0023 0.0086 0.012 . -0.3556 . . . . . . . . 7.782e-03 . . . 0.0028 0.0069 0.0040 0.0005 0.0021 0.0110 0.0042 0.0045 0.0021 0.0074 0.0038 0.0009 0.0023 0.0116 0.0014 0.0045 unknown . . . . . exonic intronic intronic . . . 0.0038 . . . 0.46 0.22 182 ENSG00000108064 TFAM TFAM . . . . . . 687 0.0105731 64976 668 0.0111359 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41283690 0.011 0.051 . . . . . 0.00641025641025641 0.0 0.0055248618784530384 0.0 0.0158311345646438 V.16 0.002408 ENST00000395377 IV.44 III.32 . . . . . . 0.008611 . . . . III.32 0.0025 0.0076 0.0049 0.0003 0.0008 0.0018 0.0127 0.0078 0.0047 0.0022 0.0066 0.0036 0 0 0.0020 0.0110 0.0102 . . . . 0.844 0.844000 . . . . . 1.0E-255 . . . . . . . . . 0.844 . 0.02 rs41283690 rs41283690 rs41283690 rs41283690 1 1538 10 1/0 0,255,255 +. 10 61083691 G GATGG - FAM13C 19371 Family with sequence similarity 13 member C NM_198215.3 -1 3375 1758 NP_937858.2 Q8NE31 insertion intron GRCh37 61083690 61083691 Chr10(GRCh37):g.61083690_61083691insGATG 443+57 443+58 NM_198215.3:c.443+57_443+58insCATC p.? p.? 4 4 57 5' 79.4718 7.92601 0.939304 3.27816 79.4718 7.92601 0.939304 3.55866 0 CATC 255 Pass . . . . . . . . . . . . . . . . 0.3617021 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000148541 FAM13C FAM13C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,44 +rs139092048 10 61819543 C A - ANK3 494 Ankyrin 3 NM_020987.4 -1 17128 13134 NP_066267.2 Q12955 substitution intron GRCh37 61819543 61819543 Chr10(GRCh37):g.61819543C>A 12596-355 12596-355 NM_020987.4:c.12596-355G>T p.? p.? 41 40 600465 -355 3' 88.7909 6.50782 0.830149 1.45892 88.7909 6.50782 0.830149 1.45892 0 rs139092048 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.004038 0.001415 0.001976 0.011335 0.000000 0.000000 0.006488 0.002521 0.002476 0.011335 1118 34 68 115 0 0 820 65 16 276858 24034 34406 10146 18862 30778 126386 25784 6462 0.000014 0.000000 0.000000 0.000197 0.000000 0.000000 0.000016 0.000000 0.000000 2 0 0 1 0 0 1 0 0 1114 34 68 113 0 0 818 65 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4398 12938 60 8 68 0.00697674 0.00181571 0.00522836 0.00697674 0.00181571 0.00522836 152 transversion G T G>T 1.000 3.595 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . . . . . 0.59183675 . . @ 58 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.268 . @ . . . . . 1 0.612 . . 98.0 . . . 0.0018 0.0052 0.007 0.0018 0.0052 0.007 . 0.3977 0.502 0.398 c . . . . . 3.844e-03 . . . 0.0013 0.0032 0.0013 0 0.0021 0.0060 0.0028 0 0.0012 0.0037 0.0013 0 0.0021 0.0064 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.570 . . exonic exonic exonic . . 0.910 0.0010 . . . 0.46 0.34 182 ENSG00000151150 ANK3 ANK3 . . . 0.974 0.295 . 311 0.00478638 64976 306 0.00510119 59986 Uncertain_significance . 0 . . . . . . T 0.395 0.018 . . 37 . 0.607 . . 0.592 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.377 . . 0 0 0 0 1 0 . 0.715 . . 0.699 . . . . . . 1 0.310 . . . . . 0.974 . 0.535 . HET 1 rs139092048 . . . . . . . 0.0018315018315018315 0.0 0.0027624309392265192 0.0 0.00395778364116095 19.9961 0.001873 . V.77 V.77 . 1.000000 . . . . 0.005228 . 0.795 . . V.77 0.0013 0.0040 0.0020 0.0116 0 0.0025 0.0065 0.0026 0 0.0016 0.0040 0.0012 0.0033 0 0.0026 0.0065 0.0020 . . 0.609 . 2.744 2.744000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.513 . 0.490 2.744 0.871 0.007 . . rs139092048 rs139092048 1 1538 10 1/0 0,255,255 +rs187759746 10 61941283 C T - ANK3 494 Ankyrin 3 NM_020987.4 -1 17128 13134 NP_066267.2 Q12955 substitution intron GRCh37 61941283 61941283 Chr10(GRCh37):g.61941283C>T 2086-98 2086-98 NM_020987.4:c.2086-98G>A p.? p.? 18 17 600465 -98 3' 85.5497 9.20381 0.824737 7.82719 85.5497 9.20381 0.824737 7.82719 0 rs187759746 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.003327 0.001147 0.001196 0.000000 0.000000 0.000000 0.005133 0.002576 0.006110 0.005133 103 10 1 0 0 0 77 9 6 30958 8722 836 302 1620 0 15002 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 10 1 0 0 0 77 9 6 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 1.255 235 PASS . 0.0018 0.01 . 0.0013 . 0.001 0.0043 . 0.002 . . . . . . 0.2647059 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . 0.3600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.43 0.49 182 ENSG00000151150 ANK3 ANK3 . . . . . . 156 0.00240089 64976 151 0.00251725 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187759746 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv1003254 . . . . . III.62 . . . . . . . . . 0.0011 0.0033 0.0012 0 0 0.0026 0.0051 0.0061 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.01 . . rs187759746 rs187759746 1 1538 10 1/0 0,255,255 +rs146631014 10 64574206 C G - EGR2 3239 Early growth response 2 NM_000399.4 -1 2993 1431 NP_000390.2 P11161 substitution missense exon GRCh37 64574206 64574206 Chr10(GRCh37):g.64574206C>G 192 192 NM_000399.4:c.192G>C p.Met64Ile p.Met64Ile 2 129010 23 3' 83.6919 12.0411 0.950175 16.8454 83.6919 12.0411 0.950175 16.6004 0 rs146631014 yes no Frequency/1000G 2 C uncertain_significance,likely_benign 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000397 0.000125 0.000000 0.000000 0.000000 0.000000 0.000718 0.000465 0.000618 0.000718 110 3 0 0 0 0 91 12 4 277146 24006 34420 10150 18868 30782 126664 25788 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 3 0 0 0 0 91 12 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 94 RCV000235956.1|RCV000388138.1 germline|germline clinical testing|clinical testing VUS|Likely benign 1|1 not specified|Charcot-Marie-Tooth, Type 1 transversion G C G>C 1.000 3.030 M Met ATG 1.000 I Ile ATC 0.481 64 12 8 Frog 2 1 2 0 0 5.VII 5.II 105 111 10 C0 254.01 0.00 Tolerated 0.41 3.00 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5268817 . . germline 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.381 . Uncertain//\@significance//\%//\@Likely//\@benign Uncertain_significance|Likely_benign RCV000235956.1|RCV000388138.1 . MedGen|MedGen CN169374|CN239158 1 0.614 . . 93.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.0158 0.156 0.016 c . . . . . 5.761e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 0.0006 0 0 0.0005 0.0010 0.0029 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.532 0.0002 . . . 0.37 0.53 182 ENSG00000122877 EGR2 EGR2 . . . 1.000 0.747 . 19 0.000292416 64976 18 0.00030007 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.179 0.007 . . 37 . 0.165 . . 0.032 . . . 0.389 0.460 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.277 . . 0 0 0 0 0 0 . 0.286 . . 0.227 . . . . . . 0 0.524 . . . . . 0.677 . 0.413 . HET 0.01 rs146631014 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 14.5735 0.0 . V.41 IV.45 . 0.020000 . . . Name\x3dnsv895570 0.000231 . 0.355 . . IV.45 0 0.0004 0 0 0 0.0004 0.0008 0.0005 0 0.0003 0.0003 0 0 0 0.0006 0.0001 0.0010 . . 0.401 . 2.523 2.523000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.325 . 0.490 2.523 0.871 0.0013 . . rs146631014 rs146631014 1 1538 10 1/0 0,255,255 +rs143793213 10 64574224 G A - EGR2 3239 Early growth response 2 NM_000399.4 -1 2993 1431 NP_000390.2 P11161 substitution synonymous exon GRCh37 64574224 64574224 Chr10(GRCh37):g.64574224G>A 174 174 NM_000399.4:c.174C>T p.Gly58= p.Gly58Gly 2 129010 5 3' 83.6919 12.0411 0.950175 16.8454 83.6919 12.0411 0.949044 16.4989 -0.000396769 Cryptic Donor Strongly Activated 64574226 70.3683 6.56339 0.744375 75.6797 rs143793213 yes no Frequency/1000G 2 G uncertain_significance,likely_benign 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000397 0.000125 0.000000 0.000000 0.000000 0.000000 0.000719 0.000466 0.000619 0.000719 110 3 0 0 0 0 91 12 4 277090 24000 34420 10152 18868 30782 126652 25750 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 3 0 0 0 0 91 12 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 79 RCV000235368.1|RCV000296104.1 germline|germline clinical testing|clinical testing VUS|Likely benign 1|1 not specified|Charcot-Marie-Tooth, Type 1 transition C T C>T 1.000 1.093 G Gly GGC 0.342 G Gly GGT 0.162 58 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.55813956 . . germline 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 1 0 0 . . . . . . . . Uncertain//\@significance//\%//\@Likely//\@benign Uncertain_significance|Likely_benign RCV000235368.1|RCV000296104.1 . MedGen|MedGen CN169374|CN239158 2 . . . 86.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.67 . . . . . . . . 5.761e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 0.0006 0 0 0.0005 0.0010 0.0029 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.36 0.49 182 ENSG00000122877 EGR2 EGR2 . . . . . . 19 0.000292416 64976 18 0.00030007 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143793213 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv895570 0.000231 . . . . IV.45 0 0.0004 0 0 0 0.0004 0.0008 0.0005 0 0.0003 0.0003 0 0 0 0.0006 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs143793213 rs143793213 1 1538 10 1/0 0,255,255 +rs140677396 10 70332355 C G - TET1 29484 Tet oncogene 1 NM_030625.2 1 9584 6411 NP_085128.2 Q8NFU7 substitution missense exon GRCh37 70332355 70332355 Chr10(GRCh37):g.70332355C>G 260 260 NM_030625.2:c.260C>G p.Thr87Ser p.Thr87Ser 2 607790 382 3' 89.6501 8.16405 0.92768 8.18207 89.6501 8.16405 0.92768 8.18207 0 New Donor Site 70332354 0.98406 0.018482 66.4674 rs140677396 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001418 0.000125 0.000029 0.000197 0.000000 0.000000 0.002612 0.001667 0.002012 0.002612 393 3 1 2 0 0 331 43 13 277210 24036 34420 10152 18868 30780 126702 25790 6462 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000310 2 0 0 0 0 0 1 0 1 389 3 1 2 0 0 329 43 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4405 12992 13 1 14 0.00151163 0.000226963 0.00107643 0.00151163 0.000226963 0.00107643 65 transversion C G C>G 0.543 0.609 T Thr ACT 0.243 S Ser AGT 0.149 87 12 7 Megabat 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.15 III.47 unknown 0.0 0.0 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . ENSG00000138336:ENST00000373644:exon2:c.C260G:p.T87S TET1:uc001jok.4:exon2:c.C260G:p.T87S TET1:NM_030625:exon2:c.C260G:p.T87S . . 0.4893617 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.366 . @ . . . . . 1 0.402 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aGt|T87S|TET1|mRNA|CODING|NM_030625|NM_030625.ex.2) 0.0002 0.0011 0.0015 0.0002 0.0011 0.0015 . -0.4687 -0.376 -0.469 c . . . . . 1.405e-03 . . . 0.0002 0.0009 0 0 0.0008 0.0017 0 0 0.0002 0.0013 0 0 0.0014 0.0023 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.080 . . exonic exonic exonic . . 0.353 0.0006 . . . 0.35 0.35 182 ENSG00000138336 TET1 TET1 . . . 0.334 0.195 . 67 0.00103115 64976 64 0.00106692 59986 Uncertain_significance . 0 . 0.275 . . . . T 0.226 0.008 . . 37 . 0.069 . . 0.304 . . . 0.203 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.330 . . 0 0 0 0 0 0 . 0.252 . . 0.227 . . . . . . 0 0.564 . . . . . 0.333 . 0.261 . HET 0.11 rs140677396 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 VIII.89 2.68E-4 ENST00000373644 V.24 III.16 . 0.090000 Q8NFU7 . . . 0.001076 . 0.199 . . III.16 0.0002 0.0013 2.978e-05 0.0002 0 0.0017 0.0024 0.0013 0 0 0.0026 0 0 0 0.0014 0.0045 0.0061 . . 0.090 . 0.405 0.405000 . . 0.090000 . . 1.0E-255 0.196 0.240 . 0.339 0.227 . 0.210 . 0.144 0.405 -0.022 0.0026 . . rs140677396 rs140677396 1 1538 10 1/0 0,255,255 +rs28723026 10 71391724 G T - C10orf35 23519 Chromosome 10 open reading frame 35 NM_145306.2 1 1076 366 NP_660349.1 Q96D05 substitution intron GRCh37 71391724 71391724 Chr10(GRCh37):g.71391724G>T 96+129 96+129 NM_145306.2:c.96+129G>T p.? p.? 3 3 129 5' 89.9194 X.02 0.995812 XI.07 89.9194 X.02 0.995812 XI.07 0 New Donor Site 71391722 8.90513 0.957337 81.5823 rs28723026 yes no Frequency/1000G 2 G 0.000000 0 transversion G T G>T 0.000 0.044 212 PASS . . . . . . . . . . . . . . . . 0.19512194 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . INTRON(MODIFIER||||C10orf35|mRNA|CODING|NM_145306|) . . . . . . . -0.0963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.21 0.19 182 ENSG00000171224 C10orf35 C10orf35 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28723026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . rs28723026 rs28723026 rs28723026 rs28723026 1 1538 10 1/0 0,255,255 +rs886047109 10 72358536 A G - PRF1 9360 Perforin 1 NM_001083116.2 -1 2547 1668 NP_001076585.1 P14222 substitution missense exon GRCh37 72358536 72358536 Chr10(GRCh37):g.72358536A>G 941 941 NM_001083116.2:c.941T>C p.Leu314Pro p.Leu314Pro 3 170280 402 3' 84.1721 8.84666 0.97943 X.62 84.1721 8.84666 0.97943 X.62 0 Membrane attack complex component/perforin (MACPF) domain rs886047109 no no 0 A uncertain_significance 0.000000 0 RCV000395073.1 germline clinical testing VUS 1 Familial hemophagocytic lymphohistiocytosis transition T C T>C 1.000 1.820 L Leu CTG 0.404 P Pro CCG 0.115 314 12 10 Zebrafish -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 234.77 45.31 Deleterious 0 II.93 255 PASS . . . . . . . . . . . . . . . . 0.43983403 . . germline 106 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.766 . Uncertain//\@significance Uncertain_significance RCV000395073.1 Familial_hemophagocytic_lymphohistiocytosis MedGen:SNOMED_CT C0272199:398250003 1 0.950 . . 241.0 . . . . . . . . . . 0.6477 0.582 0.648 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.948 . . exonic exonic exonic . . 0.584 @ . . . . . . ENSG00000180644 PRF1 PRF1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.315 . . . . D 0.927 0.366 . . 37 . 0.964 . . 0.956 . . . 0.913 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.840 . . 0 0 0 0 0 0 . 0.657 . . 0.605 . . . . . . 0 0.912 . . . . . 0.257 . 0.911 . HET 0 . . . . . . . . . . . . . VII.64 . . V.83 IV.69 . 0.010000 P14222 . . Name\x3desv32737 . . 0.420 . . IV.69 . . . . . . . . . . . . . . . . . . . 0.283 . 1.017 1.017000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.384 0.448 . 0.506 . 0.881 1.017 1.062 . . . . . 1 1538 10 1/0 0,217,244 +. 10 73052421 G GA - UNC5B 12568 Unc-5 netrin receptor B NM_170744.4 1 6890 2838 NP_734465.2 Q8IZJ1 duplication intron GRCh37 73052424 73052425 Chr10(GRCh37):g.73052424dup 1772+113 1772+113 NM_170744.4:c.1772+113dup p.? p.? 11 11 607870 113 5' 74.1084 7.21055 0.802082 3.14656 74.1084 7.21055 0.802082 3.14656 0 rs544743935 yes no Frequency/1000G 2 0.000000 0 0.002396 0.000800 0.002000 0.000000 0.008000 0.001400 0.006070 0.003436 0.002387 0.000000 0.000000 0.000000 0.009132 0.003723 0.006110 0.009132 188 30 2 0 0 0 137 13 6 30970 8732 838 302 1622 0 15002 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 188 30 2 0 0 0 137 13 6 0 0 0 0 0 0 0 0 0 PASS 43 Genomes A 255 Pass . . . . . 0.0008 0.0024 0.0014 . 0.008 0.002 . . . . . 0.5652174 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000107731 UNC5B UNC5B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs544743935 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv895712 . . . . . . . . . . . . . . . 0.0034 0.0061 0.0024 0 0 0.0037 0.0091 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,25 +. 10 74098244 A G - DNAJB12 14891 DnaJ (Hsp40) homolog, subfamily B, member 12 NM_001002762.2 -1 4360 1230 NP_001002762.2 substitution intron GRCh37 74098244 74098244 Chr10(GRCh37):g.74098244A>G 826-175 826-175 NM_001002762.2:c.826-175T>C p.? p.? 6 5 608376 -175 3' 89.7757 X.25 0.972053 5.25249 89.7757 X.25 0.972053 5.25249 0 transition T C T>C 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.4375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . 0.2316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148719 DNAJB12 DNAJB12 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv895721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 75434362 C T - AGAP5 23467 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 NM_001144000.1 -1 2426 2061 NP_001137472.1 substitution missense exon GRCh37 75434362 75434362 Chr10(GRCh37):g.75434362C>T 2056 2056 NM_001144000.1:c.2056G>A p.Val686Met p.Val686Met 8 1471 3' 88.0254 X.65 0.97795 9.65261 88.0254 X.65 0.97795 9.65261 0 0.000049 0.000146 0.000087 0.000000 0.000000 0.000000 0.000031 0.000000 0.000000 0.000146 4 2 1 0 0 0 1 0 0 80954 13660 11526 1488 9102 6056 32454 4266 2402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6374553 Thyroid 0.004016 747 transition G A G>A 0.988 0.367 V Val GTG 0.468 M Met ATG 1.000 686 13 4 Orangutan 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 234.99 0.00 Deleterious 0.01 III.57 bad 9.403E-4 0.0009759 182 PASS . . . . . . . . . . . . . AGAP5:NM_001144000:exon8:c.G2056A:p.V686M . . 0.11827957 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.190 . @ . . . . . 1 0.401 . . 93.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V686M|AGAP5|mRNA|CODING|NM_001144000|NM_001144000.ex.8) . . . . . . . -0.4762 -0.695 -0.476 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.571 . . exonic exonic exonic . . . @ . . . 0.44 0.31 182 ENSG00000172650 AGAP5 AGAP5 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.452 . . . . T 0.131 0.005 . . 37 . 0.442 . . 0.313 . . . 0.170 0.194 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.657 . . 0.708 . . . . . . 0 0.491 . . . . . 0.180 . 0.095 . LowAF 0 . . . . . . . . . . . . . V.89 . . . . . 0.000000 A6NIR3 . . . . . 0.047 . . . 0 3.899e-05 9.325e-05 0 0 0 5.389e-05 0 0 0.0002 6.743e-05 0 0 0 0 0 0 . . 0.558 . 0.107 0.107000 . . 0.000000 . . 1.0E-182 1.000 0.715 . 0.140 0.144 . 0.039 . 0.022 0.107 -0.653 . rs61842805 rs61842805 rs61842805 rs61842805 1 1538 10 1/0 0,231,255 +rs148177038 10 75883487 C A - AP3M1 569 Adaptor related protein complex 3 mu 1 subunit NM_001320263.1 -1 5431 1257 NP_001307192.1 Q9Y2T2 substitution 3'UTR GRCh37 75883487 75883487 Chr10(GRCh37):g.75883487C>A *81 *81 NM_001320263.1:c.*81G>T p.? p.? 11 610366 182 3' 96.2757 7.88713 0.873833 6.65436 96.2757 7.88713 0.873833 6.65436 0 New Donor Site 75883489 3.77557 0.163044 70.7126 rs148177038 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.002487 0.000115 0.000000 0.000000 0.000000 0.000000 0.002999 0.008877 0.000000 0.008877 77 1 0 0 0 0 45 31 0 30964 8730 838 302 1616 0 15006 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 1 0 0 0 0 45 31 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 1.000 2.304 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . . . . . 0.42222223 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . . . . . . . . . I.87 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0010 . . . 0.67 0.7 182 ENSG00000185009 AP3M1 AP3M1 . . . . . . 165 0.0025394 64976 160 0.00266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148177038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.43 . . . . . . . . . 0.0001 0.0025 0 0 0 0.0089 0.0030 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs148177038 rs148177038 1 1538 10 1/0 0,255,255 +rs141935235 10 76788410 G A - KAT6B 17582 Lysine acetyltransferase 6B NM_012330.3 1 8499 6222 NP_036462.2 Q8WYB5 substitution synonymous exon GRCh37 76788410 76788410 Chr10(GRCh37):g.76788410G>A 3828 3828 NM_012330.3:c.3828G>A p.Pro1276= p.Pro1276Pro 18 605880 164 3' 73.4616 3.52272 0.308361 7.27336 73.4616 3.52272 0.308361 7.27336 0 rs141935235 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000209 0.000083 0.000058 0.000000 0.000000 0.000032 0.000410 0.000039 0.000000 0.000410 58 2 2 0 0 1 52 1 0 277052 24028 34418 10152 18862 30782 126682 25664 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 2 2 0 0 1 52 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 79 transition G A G>A 0.016 -2.942 P Pro CCG 0.115 P Pro CCA 0.274 1276 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.3902439 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . -0.3175 . . . . . . . . 2.210e-04 . . . 9.639e-05 0.0002 0 0 0 0.0003 0 0 0.0001 0.0002 0 0 0 0.0004 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.56 0.17 182 ENSG00000156650 KAT6B KAT6B . . . . . . 15 0.000230854 64976 14 0.000233388 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141935235 . . . . . . . . . . . . . . . . . . . . . . . 0.000308 . . . . . 0.0001 0.0002 5.956e-05 0 0 4.51e-05 0.0004 0 3.249e-05 0 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs141935235 rs141935235 1 1538 10 1/0 0,255,255 +. 10 81466096 C T - NUTM2B 23445 NUT family member 2B NM_001278495.1 1 3292 2637 NP_001265424.1 A6NNL0 substitution synonymous exon GRCh37 81466096 81466096 Chr10(GRCh37):g.81466096C>T 681 681 NM_001278495.1:c.681C>T p.Ala227= p.Ala227Ala 2 299 3' 85.5424 XI.12 0.986584 15.4613 85.5424 XI.12 0.986584 15.4613 0 transition C T C>T 0.016 -0.117 A Ala GCC 0.403 A Ala GCT 0.263 227 193 PASS . . . . . . . . . . . . . NUTM2B:NM_001278495:exon2:c.C681T:p.A227A . . 0.14285715 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.2284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . . . . ENSG00000188199 . NUTM2B . dist\x3d17446\x3bdist\x3d56235 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 10 81466096 C T - NUTM2B-AS1 51204 NUTM2B antisense RNA 1 NR_120611.1 -1 4455 0 substitution downstream GRCh37 81466096 81466096 Chr10(GRCh37):g.81466096C>T *56232 *56232 NR_120611.1:n.*56232G>A p.? p.? 6 59985 3' 98.5911 7.24159 0.942295 4.45869 98.5911 7.24159 0.942295 4.45869 0 transition G A G>A 0.016 -0.117 193 PASS . . . . . . . . . . . . . NUTM2B:NM_001278495:exon2:c.C681T:p.A227A . . 0.14285715 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.2284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . @ . . . . . . ENSG00000188199 . NUTM2B . dist\x3d17446\x3bdist\x3d56235 . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 10 81472714 G C - NUTM2B 23445 NUT family member 2B NM_001278495.1 1 3292 2637 NP_001265424.1 A6NNL0 substitution downstream GRCh37 81472714 81472714 Chr10(GRCh37):g.81472714G>C *473 *473 NM_001278495.1:c.*473G>C p.? p.? 7 1259 3' 83.1298 XI.75 0.962092 XI.34 83.1298 XI.75 0.962092 XI.34 0 Cryptic Acceptor Strongly Activated 81472724 0.376 0.006303 65.1219 1.40778 0.041414 67.7728 0.001606 0.010160 0.000000 0.000000 0.000000 0.001174 0.001198 0.000000 0.000000 0.010160 33 19 0 0 0 2 12 0 0 20544 1870 2360 282 1192 1704 10014 2408 714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 19 0 0 0 2 12 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.440 251 PASS . . . . . . . . . . . . . . . . 0.32 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.4310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.72 0.73 182 ENSG00000226381 . NUTM2B-AS1 . dist\x3d24064\x3bdist\x3d49617 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0052 0.0011 0 0 0 0 0.0015 0 0.0012 0.0124 0.0022 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs75069128 rs75069128 1 1538 10 1/0 0,255,255 +. 10 81472714 G C - NUTM2B-AS1 51204 NUTM2B antisense RNA 1 NR_120611.1 -1 4455 0 substitution downstream GRCh37 81472714 81472714 Chr10(GRCh37):g.81472714G>C *49614 *49614 NR_120611.1:n.*49614C>G p.? p.? 6 53367 3' 98.5911 7.24159 0.942295 4.45869 98.5911 7.24159 0.942295 4.45869 0 0.001606 0.010160 0.000000 0.000000 0.000000 0.001174 0.001198 0.000000 0.000000 0.010160 33 19 0 0 0 2 12 0 0 20544 1870 2360 282 1192 1704 10014 2408 714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 19 0 0 0 2 12 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.440 251 PASS . . . . . . . . . . . . . . . . 0.32 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.4310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.72 0.73 182 ENSG00000226381 . NUTM2B-AS1 . dist\x3d24064\x3bdist\x3d49617 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0052 0.0011 0 0 0 0 0.0015 0 0.0012 0.0124 0.0022 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs75069128 rs75069128 1 1538 10 1/0 0,255,255 +rs434960 10 81609718 G C - NUTM2E 23448 NUT family member 2E NM_001355263.1 1 3292 2637 NP_001342192.1 B1AL46 substitution missense exon GRCh37 81609718 81609718 Chr10(GRCh37):g.81609718G>C 1993 1993 NM_001355263.1:c.1993G>C p.Glu665Gln p.Glu665Gln 7 142 3' 83.1298 XI.75 0.962092 X.73 83.1298 XI.75 0.962092 X.73 0 Cryptic Acceptor Strongly Activated 81609722 0.000575 1.78178 0.000733 62.7703 rs434960 yes no Frequency 1 C 0.000000 0 0.005411 0.011569 0.006721 0.000182 0.001014 0.005952 0.006420 0.000650 0.005640 0.011569 733 145 87 1 15 109 350 9 17 135466 12534 12944 5506 14794 18314 54514 13846 3014 0.004798 0.009734 0.006489 0.000000 0.000811 0.005897 0.005577 0.000433 0.004645 325 61 42 0 6 54 152 3 7 83 23 3 1 3 1 46 3 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -2.297 E Glu GAA 0.417 Q Gln CAA 0.256 665 11 1 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Tolerated 0.59 III.40 197 PASS . . . . . . . . . . . ENSG00000228570:ENST00000429984:exon7:c.G1993C:p.E665Q . . . . 0.15384616 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.003 . @ . . . . . 3 0.001 . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.8085 -2.025 -1.809 c . . . . . 1.060e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV . . 0.110 . . exonic intergenic intergenic . . 0.077 @ . . . 0.36 0.33 182 ENSG00000228570 . . . dist\x3d22360\x3bdist\x3d54936 dist\x3d22360\x3bdist\x3d54936 0.000 0.044 . . . . . . . . . 0 . 0.012 . . . . T 0.251 0.010 . . 37 . 0.039 . . 0.342 . . . . 0.090 . . . . . . . . . . . . . . . 0.028 . . . . . . 0 . . . . . . . . . . . . . 0.064 . . . . . 0.095 . 0.022 . HET 0.63 rs763070196 0.065 0.043 . . . . . . . . . . 4.1172 . ENST00000429984 0.844 -1.69 . 1.000000 . . . Name\x3dnsv895801 . . 0.001 . . . 0.0141 0.0054 0.0066 0 0.0010 0.0005 0.0063 0.0058 0.0060 0.0063 0.0058 0.01 0.0089 0.0017 0.0018 0.0071 0.0049 . . 0.246 . -2.382 -2.382000 . . 1.000000 . . 1.0E-197 0.000 0.063 . 0.016 0.023 . 0.018 . 0.001 -2.382 -0.518 0.065 rs434960 rs434960 rs434960 rs434960 1 1538 10 1/0 0,255,255 +. (chr10:81993459 TC/T) 10 81993459 TC T Not on a known gene +rs2819913 (chr10:81993495 C/A) 10 81993495 C A Not on a known gene +rs747419266 10 82111611 G A - DYDC1 23460 DPY30 domain containing 1 NM_001269053.1 -1 641 534 NP_001255982.1 Q8WWB3 substitution intron GRCh37 82111611 82111611 Chr10(GRCh37):g.82111611G>A 249+46 249+46 NM_001269053.1:c.249+46C>T p.? p.? 3 3 615154 46 5' 90.6189 10.0684 0.978939 5.47029 90.6189 10.0684 0.978939 5.41856 0 Cryptic Acceptor Strongly Activated 82111602 0.628789 0.000444 65.2929 0.689165 0.001157 68.0047 rs747419266 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000032 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000032 2 0 1 0 0 0 1 0 0 235374 14848 31034 9258 16566 28548 108120 21800 5200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 53 Exomes transition C T C>T 0.000 1.255 255 PASS . . . . . . . . . . . . . . . . 0.5194805 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.3956 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0 0 2.383e-05 0 0 0 9.464e-06 0 0 0 1.846e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747419266 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831923 . . . . . 3.VIII 0 8.497e-06 3.222e-05 0 0 0 9.249e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs747419266 10 82111611 G A - DYDC2 23468 DPY30 domain containing 2 NM_001270042.1 1 1736 576 NP_001256971.1 substitution intron GRCh37 82111611 82111611 Chr10(GRCh37):g.82111611G>A 33+7040 33+7040 NM_001270042.1:c.33+7040G>A p.? p.? 1 1 7040 5' 78.1641 8.59132 0.984956 4.43428 78.1641 8.59132 0.984956 4.43428 0 Cryptic Donor Strongly Activated 82111607 3.54629 0.168328 71.2105 3.768 0.836311 81.2911 rs747419266 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000032 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000032 2 0 1 0 0 0 1 0 0 235374 14848 31034 9258 16566 28548 108120 21800 5200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 53 Exomes transition G A G>A 0.000 1.255 255 PASS . . . . . . . . . . . . . . . . 0.5194805 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.3956 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0 0 2.383e-05 0 0 0 9.464e-06 0 0 0 1.846e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747419266 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv831923 . . . . . 3.VIII 0 8.497e-06 3.222e-05 0 0 0 9.249e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs45529531 10 88451649 A G - LDB3 15710 LIM domain binding 3 NM_001171610.1 1 5436 2199 NP_001165081.1 substitution splice site GRCh37 88451649 88451649 Chr10(GRCh37):g.88451649A>G 894-4 894-4 NM_001171610.1:c.894-4A>G p.? p.? 7 6 605906 -4 3' 90.5427 7.63592 0.949651 6.44886 90.5427 8.36457 0.942188 7.79178 0.0291886 rs45529531 yes no Frequency/1000G 2 A uncertain_significance,benign,likely_benign 0.000000 0 0.006190 0.015100 0.000000 0.000000 0.007000 0.005800 0.002537 0.006328 0.005114 0.003153 0.000000 0.000032 0.002346 0.000271 0.005877 0.006328 703 152 176 32 0 1 297 7 38 277098 24020 34416 10150 18868 30782 126606 25790 6466 0.000036 0.000000 0.000058 0.000000 0.000000 0.000000 0.000047 0.000000 0.000309 5 0 1 0 0 0 3 0 1 693 152 174 32 0 1 291 7 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4376 12943 33 30 63 0.00383721 0.0068089 0.00484392 0.00383721 0.0068089 0.00484392 115 RCV000030120.1|RCV000405139.1|RCV000393351.1|RCV000288174.1|RCV000154455.5|RCV000347861.1 germline|germline|germline|germline|germline|germline|germline|germline|germline curation|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Likely benign|Conflicting interpretations of pathogenicity|VUS|VUS|Benign|VUS 1|1|1|1|2|1 Cardiomyopathy|Myofibrillar myopathy, ZASP-related|Myofibrillar Myopathy, Dominant|Dilated Cardiomyopathy, Dominant|not specified|Left ventricular noncompaction cardiomyopathy transition A G A>G 0.677 1.013 255 PASS 0.01 0.01 0.01 . 0.01 0.015 0.0062 0.0058 . 0.007 . . . . . . 0.4890511 . . germline 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Likely//\@benign//\%//\@Benign//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance Likely_benign|Benign|Uncertain_significance|Uncertain_significance|Uncertain_significance|Uncertain_significance RCV000030120.1|RCV000154455.4|RCV000288174.1|RCV000347861.1|RCV000393351.1|RCV000405139.1 . MedGen:Orphanet:SNOMED_CT|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:OMIM:Orphanet C0878544:ORPHA167848:85898001|CN169374|CN239310|HP:0011664:CN167392|CN239446|C1836155:609452:ORPHA98912 2 . . . 137.0 . . . 0.0068 0.0048 0.0038 0.0068 0.0048 0.0038 . 0.5907 . . . . . . . . 2.328e-03 . . . 0.0076 0.0029 0.0042 0 0 0.0032 0.0070 0 0.0077 0.0023 0.0043 0 0.0002 0.0022 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0062 . . . 0.39 0.4 182 ENSG00000122367 LDB3 LDB3 . . . . . . 155 0.0023855 64976 124 0.00206715 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45529531 0.022 0.014 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNACC\x3dRCV000030120.1 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dCardiomyopathy\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000030120.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0878544:85898001 CLINSIG\x3dprobable-non-pathogenic|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000030120.1|RCV000154455.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0878544:85898001|CN169374 CLINSIG\x3dprobable-non-pathogenic|non-pathogenic\x3bCLNDBN\x3dCardiomyopathy|not_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts\x3bCLNACC\x3dRCV000030120.1|RCV000154455.1\x3bCLNDSDB\x3dMedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dC0878544:85898001|CN169374 . . . . . . . . . . . . . . 0.0001 0 . 0.004844 . . . . . 0.0068 0.0025 0.0051 0.0031 0 0.0003 0.0023 0.0064 3.249e-05 0.0055 0.0030 0.0048 0.0033 0 0 0.0025 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs45529531 rs45529531 rs45529531 . 1 1538 10 1/0 0,245,255 +rs190063080 10 88769294 C T - AGAP11 29421 Ankyrin repeat and GTPase domain Arf GTPase activating protein 11 NM_133447.1 1 3155 1653 NP_597704.1 Q8TF27 substitution missense exon GRCh37 88769294 88769294 Chr10(GRCh37):g.88769294C>T 1285 1285 NM_133447.1:c.1285C>T p.Arg429Trp p.Arg429Trp 12 1183 3' 81.7812 8.64076 0.928954 5.33915 81.7812 8.64076 0.928954 5.33915 0 rs190063080 yes no Frequency/1000G 2 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000487 0.000544 0.001278 0.000000 0.000000 0.000227 0.000553 0.000000 0.000155 0.001278 135 13 44 0 0 7 70 0 1 277050 23896 34416 10152 18870 30782 126678 25792 6464 0.000014 0.000000 0.000116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 131 13 40 0 0 7 70 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4401 12994 7 1 8 0.000813953 0.000227169 0.00061529 0.000813953 0.000227169 0.00061529 168 transition C T C>T 1.000 0.851 R Arg CGG 0.207 W Trp TGG 1.000 429 -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 255 PASS . 0.0014 0.01 . . . . . . . . . . AGAP11:NM_133447:exon12:c.C1285T:p.R429W . . 0.5104895 . . @ 73 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R429W|AGAP11|mRNA|CODING|NM_133447|NM_133447.ex.12) 0.0002 0.0006 0.0008 0.0002 0.0006 0.0008 . -0.3655 . . . . . . . . 3.947e-04 . . . 0.0008 0.0004 0.0009 0 0 0.0005 0.0014 6.061e-05 0.0009 0.0004 0.0007 0 0 0.0004 0.0014 6.096e-05 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . 0.0000 . . . 0.52 0.28 182 . AGAP11 AGAP11 . . . . . . 18 0.000277025 64976 18 0.00030007 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190063080 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . . 0.0007 0.0005 0.0013 0 0 0 0.0006 0.0002 0.0002 0.0003 0.0003 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190063080 rs190063080 1 1538 10 1/0 0,247,255 +rs765608992 10 88769638 C T - AGAP11 29421 Ankyrin repeat and GTPase domain Arf GTPase activating protein 11 NM_133447.1 1 3155 1653 NP_597704.1 Q8TF27 substitution synonymous exon GRCh37 88769638 88769638 Chr10(GRCh37):g.88769638C>T 1629 1629 NM_133447.1:c.1629C>T p.Tyr543= p.Tyr543Tyr 12 1527 3' 81.7812 8.64076 0.928954 5.33915 81.7812 8.64076 0.928954 5.33915 0 rs765608992 yes no Frequency 1 C 0.000000 0 0.000026 0.000000 0.000090 0.000000 0.000000 0.000000 0.000030 0.000000 0.000000 0.000090 4 0 2 0 0 0 2 0 0 152380 9730 22320 4642 13598 16936 67022 14712 3420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 84 Exomes transition C T C>T 1.000 1.658 Y Tyr TAC 0.562 Y Tyr TAT 0.438 543 177 PASS . . . . . . . . . . . . . AGAP11:NM_133447:exon12:c.C1629T:p.Y543Y . . 0.10769231 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y543|AGAP11|mRNA|CODING|NM_133447|NM_133447.ex.12) . . . . . . . -0.0931 . . . . . . . . 1.640e-05 . . . 0 7.329e-05 0 0 0 0.0001 0 0 0 9.517e-05 0 0 0 0.0002 0 0 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.5 0.32 182 . AGAP11 AGAP11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs765608992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.625e-05 8.961e-05 0 0 0 2.984e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs74757729 rs74757729 1 1538 10 1/0 0,216,255 +. 10 88912087 C T - FAM35A 28773 Family with sequence similarity 35 member A NM_001330112.1 1 3660 2715 NP_001317041.1 substitution missense exon GRCh37 88912087 88912087 Chr10(GRCh37):g.88912087C>T 976 976 NM_001330112.1:c.976C>T p.His326Tyr p.His326Tyr 3 -550 5' 90.6189 10.0684 0.915259 0 90.6189 10.0684 0.915259 0 0 Cryptic Acceptor Weakly Activated 88912106 3.03045 0.010097 65.2033 3.13477 0.015366 65.2033 transition C T C>T 0.000 -0.198 H His CAC 0.587 Y Tyr TAC 0.562 326 12 8 Dog 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 238.69 56.13 Tolerated 0.16 III.15 182 PASS . . . . . . . . . . . . FAM35A:uc001kei.4:exon3:c.C976T:p.H326Y FAM35A:NM_019054:exon3:c.C976T:p.H326Y . . 0.11764706 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.138 . . 85.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H326Y|FAM35A|mRNA|CODING|NM_019054|NM_019054.ex.3) . . . . . . . -0.8072 -0.853 -0.807 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.237 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000122376 FAM35A FAM35A . . . 0.000 0.046 . . . . . . . Uncertain_significance . 0 . 0.080 . . . . T 0.053 0.003 . . 37 . 0.232 . . 0.321 . . . 0.440 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.112 . . 0.080 . . . . . . 0 0.033 . . . . . 0.077 . 0.101 . LowAF 0.61 . . . . . . . . . . . . . III.17 . . 4.IX 1.I . 0.210000 Q86V20 . . . . . 0.060 . . . . . . . . . . . . . . . . . . . . . . 0.924 . 0.056 0.056000 . . 0.210000 . . 1.0E-182 0.000 0.063 . 0.321 0.323 . 0.079 . 0.324 0.056 0.871 . . . . . 1 1538 10 1/0 0,235,255 +rs781686464 10 88988048 C T - NUTM2A 23438 NUT family member 2A NM_001099338.1 1 3290 2637 NP_001092808.1 Q8IVF1 substitution synonymous exon GRCh37 88988048 88988048 Chr10(GRCh37):g.88988048C>T 411 411 NM_001099338.1:c.411C>T p.Thr137= p.Thr137Thr 2 29 3' 85.5424 XI.12 0.986129 15.705 85.5424 XI.12 0.986129 15.8147 0 rs781686464 yes no Frequency 1 0.000000 0 0.000174 0.000196 0.000061 0.000000 0.000226 0.000345 0.000138 0.000250 0.000342 0.000345 43 4 2 0 4 10 15 6 2 247712 20370 32564 9466 17720 29012 108774 23962 5844 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 4 2 0 4 10 15 6 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.924 T Thr ACC 0.361 T Thr ACT 0.243 137 190 PASS . . . . . . . . . . . . NUTM2A:uc001kek.3:exon2:c.C411T:p.T137T NUTM2A:NM_001099338:exon2:c.C411T:p.T137T . . 0.13636364 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T137|NUTM2A|mRNA|CODING|NM_001099338|NM_001099338.ex.2) . . . . . . . -0.5591 . . . . . . . . 1.388e-04 . . . 0.0006 0.0004 0.0003 0.0014 0 0.0002 0 0.0005 0.0008 0.0003 0.0003 0.0007 0 0.0001 0 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.3 182 ENSG00000184923 NUTM2A NUTM2A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781686464 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.457e-05 0.0001 3.147e-05 0 0.0002 0 6.285e-05 0.0004 0.0003 0.0004 0.0007 0.0013 0 0 0.0018 0.0007 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs3871230 rs3871230 rs3871230 rs3871230 1 1538 10 1/0 0,255,255 +. 10 88988318 C T - NUTM2A 23438 NUT family member 2A NM_001099338.1 1 3290 2637 NP_001092808.1 Q8IVF1 substitution synonymous exon GRCh37 88988318 88988318 Chr10(GRCh37):g.88988318C>T 681 681 NM_001099338.1:c.681C>T p.Ala227= p.Ala227Ala 2 299 3' 85.5424 XI.12 0.986129 15.705 85.5424 XI.12 0.986129 15.705 0 0.000034 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 29250 8664 790 220 1622 0 13582 3476 896 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.000 -0.279 A Ala GCC 0.403 A Ala GCT 0.263 227 195 PASS . . . . . . . . . . . . NUTM2A:uc001kek.3:exon2:c.C681T:p.A227A NUTM2A:NM_001099338:exon2:c.C681T:p.A227A . . 0.14814815 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A227|NUTM2A|mRNA|CODING|NM_001099338|NM_001099338.ex.2) . . . . . . . -0.7939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184923 NUTM2A NUTM2A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . II.99 . ENST00000451286 I.29 -1.08 . . . . . . . . . . . . . . . . . . . . . 0.0001 3.419e-05 0 0 0 0 0 0 . . . . -0.265 -0.265000 . . . . . 9.999999999999999E-196 . . . . . . . . . -0.265 . . . . . . 1 1538 10 1/0 0,255,255 +rs752295330 10 89120266 C T - NUTM2D 23447 NUT family member 2D NM_001009610.1 1 5543 1674 NP_001009610.1 substitution synonymous exon GRCh37 89120266 89120266 Chr10(GRCh37):g.89120266C>T 195 195 NM_001009610.1:c.195C>T p.Thr65= p.Thr65Thr 2 29 3' 85.5424 XI.12 0.986129 15.705 85.5424 XI.12 0.986129 15.8147 0 rs752295330 yes no Frequency 1 C 0.000000 0 0.000067 0.000000 0.000000 0.000000 0.000936 0.000000 0.000106 0.000000 0.000000 0.000936 3 0 0 0 1 0 2 0 0 44484 4498 6196 1592 1068 6850 18880 4220 1180 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000106 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.008 -0.037 T Thr ACC 0.361 T Thr ACT 0.243 65 228 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T247|NUTM2D|Non-coding_transcript|NON_CODING|NR_075100|NR_075100.ex.2) . . . . . . . -0.2656 . . . . . . . . 6.420e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.19 0.23 182 ENSG00000214562 NUTM2D NUTM2D . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs752295330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.375e-05 0 0 0.0010 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs3871230 rs3871230 rs3871230 rs3871230 1 1538 10 1/0 0,255,255 +rs200273392 10 91505721 G A - KIF20B 7212 Kinesin family member 20B NM_001284259.1 1 6450 5463 NP_001271188.1 Q96Q89 substitution splice site GRCh37 91505721 91505721 Chr10(GRCh37):g.91505721G>A 4096+5 4096+5 NM_001284259.1:c.4096+5G>A p.? p.? 23 23 605498 5 5' 84.792 6.22623 0.818588 0 72.6405 1.98685 0.083479 0 -0.574074 rs200273392 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000148 0.000000 0.000000 0.000592 0.000000 0.000000 0.000269 0.000000 0.000155 0.000592 41 0 0 6 0 0 34 0 1 276686 24026 34390 10134 18816 30756 126394 25710 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 0 0 6 0 0 34 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 89 transition G A G>A 0.984 3.434 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.47727272 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.68 . . . . . . . . 1.421e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 8.599e-05 0 0 0 0.0002 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.32 0.29 182 ENSG00000138182 KIF20B KIF20B . . . . . . 11 0.000169293 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200273392 . . . . . . . . . . . . . . . . . . . . 0.9997 0.942 . 0.000231 . . . . V.31 0 0.0001 0 0.0006 0 0 0.0002 0 0 0 0.0003 0 0 0 0 0.0006 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200273392 rs200273392 1 1538 10 1/0 0,255,255 +rs368507225 10 93668174 C G - FGFBP3 23428 Fibroblast growth factor binding protein 3 NM_152429.4 -1 2564 777 NP_689642.3 Q8TAT2 substitution missense exon GRCh37 93668174 93668174 Chr10(GRCh37):g.93668174C>G 553 553 NM_152429.4:c.553G>C p.Ala185Pro p.Ala185Pro 2 631 3' 84.2402 14.0143 0.972312 9.91898 84.2402 14.0143 0.972312 9.91898 0 Cryptic Acceptor Strongly Activated 93668176 0.962491 0.000296 70.2213 1.13333 0.000962 70.2213 FGF binding 1 transversion G C G>C 0.000 0.609 A Ala GCT 0.263 P Pro CCT 0.283 185 10 6 Armadillo -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Deleterious 0.04 III.76 bad 3.564E-3 0.004704 255 PASS . . . . . . . . . . . ENSG00000174721:ENST00000311575:exon2:c.G553C:p.A185P . FGFBP3:NM_152429:exon2:c.G553C:p.A185P . . 0.3888889 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.397 . @ . . . . . 1 0.124 . . 108.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A185P|FGFBP3|mRNA|CODING|NM_152429|NM_152429.ex.2) . . . . . . . -0.4924 -0.711 -0.492 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.147 . . exonic exonic exonic . . 0.206 @ . . . 0.4 0.43 182 ENSG00000174721 FGFBP3 FGFBP3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.530 0.031 . . 37 . 0.180 . . 0.155 . . . 0.404 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.123 . . 0 0 0 0 0 0 . 0.588 . . 0.562 . . . . . . 0 0.285 . . . . . 0.214 . 0.298 . HET 0.11 . . . . . . . . . . . . . VI.43 . ENST00000311575 III.18 I.28 . 0.220000 Q8TAT2 . . . . . 0.101 . . . . . . . . . . . . . . . . . . . . . . 0.062 . 0.201 0.201000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.062 0.009 . 0.160 . 0.120 0.201 -0.032 . . . . . 1 1538 10 1/0 0,250,255 +rs72817264 10 95073040 G A - MYOF 3656 Myoferlin NM_013451.3 -1 6843 6186 NP_038479.1 Q9NZM1 substitution intron GRCh37 95073040 95073040 Chr10(GRCh37):g.95073040G>A 5699-73 5699-73 NM_013451.3:c.5699-73C>T p.? p.? 51 50 604603 -73 3' 80.6286 9.14905 0.877584 8.77667 80.6286 9.14905 0.877584 9.42839 0 rs72817264 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.005000 0.000000 0.003778 0.000229 0.000000 0.000000 0.000000 0.000000 0.005529 0.007732 0.005092 0.007732 117 2 0 0 0 0 83 27 5 30970 8724 838 302 1620 0 15012 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 2 0 0 0 0 83 27 5 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition C T C>T 0.150 0.448 255 PASS . . . . . . 0.0014 . . 0.005 0.002 . . . . . 0.48214287 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . 0.2068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.36 0.28 182 ENSG00000138119 MYOF MYOF . . . . . . 176 0.00270869 64976 169 0.00281732 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72817264 . 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0038 0 0 0 0.0077 0.0055 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72817264 rs72817264 rs72817264 1 1538 10 1/0 0,255,255 +rs185504138 10 95380244 G A - PDE6C 8787 Phosphodiesterase 6C, cGMP-specific, cone, alpha prime NM_006204.3 1 2970 2577 NP_006195.3 P51160 substitution intron GRCh37 95380244 95380244 Chr10(GRCh37):g.95380244G>A 481-145 481-145 NM_006204.3:c.481-145G>A p.? p.? 2 1 600827 -145 3' 87.0661 X.29 0.650479 7.79355 87.0661 X.29 0.650479 7.79355 0 Cryptic Donor Strongly Activated 95380240 0.008219 56.0766 0.485619 0.031101 66.1573 rs185504138 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000800 0.000000 0.000000 0.003000 0.000000 0.004360 0.000458 0.001196 0.003311 0.000000 0.000000 0.007599 0.003721 0.002041 0.007599 135 4 1 1 0 0 114 13 2 30964 8732 836 302 1618 0 15002 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 135 4 1 1 0 0 114 13 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.044 255 PASS . 0.0009 . . 0.0026 0.0008 0.0008 . . 0.003 . . . . . . 0.36734694 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . INTRON(MODIFIER||||PDE6C|mRNA|CODING|NM_006204|) . . . . . . . 0.0800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.23 0.37 182 ENSG00000095464 PDE6C PDE6C . . . . . . 249 0.00383218 64976 245 0.00408429 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185504138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0044 0.0012 0.0033 0 0.0037 0.0076 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs185504138 rs185504138 1 1538 10 1/0 0,255,255 +rs375505576 10 95653988 C T - SLC35G1 26607 Solute carrier family 35, member G1 NM_001134658.1 1 2403 1098 NP_001128130.1 Q2M3R5 substitution intron GRCh37 95653988 95653988 Chr10(GRCh37):g.95653988C>T 178+20 178+20 NM_001134658.1:c.178+20C>T p.? p.? 1 1 617167 20 5' 86.6769 9.89081 0.987177 13.876 86.6769 9.89081 0.987177 13.7406 0 rs375505576 yes no Frequency 1 C 0.000000 0 0.000807 0.000423 0.001608 0.000000 0.000000 0.000000 0.001267 0.000000 0.000000 0.001608 33 4 4 0 0 0 25 0 0 40884 9446 2488 688 1990 1088 19734 4270 1180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 4 4 0 0 0 25 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7868 3964 11832 8 0 8 0.00101574 0 0.000675676 0.00101574 0 0.000675676 5 transition C T C>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5652174 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . 0.0007 0.001 . 0.0007 0.001 . 1.0059 . . . . . . . . 2.299e-04 . . . 0 0.0005 0.0116 0 0 0 0 0 0 0.0006 0.0122 0 0 0 . 0 . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.2 0.33 182 ENSG00000176273 BC036382 SLC35G1 . . . . . . 18 0.000277025 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375505576 . . . . . . . . . . . . . . . . . . . . . . . 0.000676 . . . . . 0 0.0010 0.0024 0 0 0 0.0012 0 0 0.0005 0.0008 0 0 0 0 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.001 . . rs375505576 . 1 1538 10 1/0 0,255,255 +rs140289143 10 96121505 T C - NOC3L 24034 NOC3-like DNA replication regulator NM_022451.10 -1 3492 2403 NP_071896.8 Q8WTT2 substitution missense exon GRCh37 96121505 96121505 Chr10(GRCh37):g.96121505T>C 134 134 NM_022451.10:c.134A>G p.Glu45Gly p.Glu45Gly 2 610769 -84 5' 87.6072 8.55395 0.969345 2.72754 87.6072 8.55395 0.969345 2.72754 0 Nucleolar complex-associated protein 3 rs140289143 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.008103 0.002330 0.003864 0.004236 0.000000 0.001170 0.013917 0.006515 0.007271 0.013917 2246 56 133 43 0 36 1763 168 47 277184 24032 34420 10150 18868 30782 126680 25788 6464 0.000094 0.000000 0.000058 0.000000 0.000000 0.000000 0.000189 0.000000 0.000000 13 0 1 0 0 0 12 0 0 2220 56 131 43 0 36 1739 168 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8475 4394 12869 125 12 137 0.0145349 0.00272356 0.0105336 0.0145349 0.00272356 0.0105336 269 transition A G A>G 1.000 4.483 E Glu GAA 0.417 G Gly GGA 0.246 45 13 10 Baker's yeast -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 157.03 29.89 Tolerated 0.07 II.92 255 PASS . 0.0018 . . 0.01 . 0.0014 . . 0.007 . . NOC3L:uc001kjq.1:exon2:c.A134G:p.E45G NOC3L:NM_022451:exon2:c.A134G:p.E45G . . 0.48214287 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.834 . @ . . . . . 1 0.988 . . 56.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E45G|NOC3L|mRNA|CODING|NM_022451|NM_022451.ex.2) 0.0027 0.011 0.015 0.0027 0.011 0.015 . 0.5618 0.591 0.562 c . . . . . 7.900e-03 . . . 0.0026 0.0070 0.0038 0 0.0055 0.0123 0.0042 0.0013 0.0028 0.0074 0.0035 0 0.0047 0.0123 0.0029 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.127 . . exonic exonic exonic . . 0.685 0.0014 . . . 0.39 0.45 182 ENSG00000173145 NOC3L NOC3L . . . 1.000 0.747 . 741 0.0114042 64976 734 0.0122362 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.176 . . 0.040 . . . 0.562 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.399 . . 0 0 0 0 0 0 . 0.764 . . 0.807 . . . . . . 0 0.599 . . . . . 0.699 . 0.342 . HET 0.01 rs140289143 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 14.8677 0.002408 . 5.IX 5.IX . 0.030000 Q8WTT2 . . Name\x3dnsv831946 0.010534 . 0.613 . . 5.IX 0.0024 0.0080 0.0039 0.0042 0 0.0065 0.0137 0.0073 0.0012 0.0023 0.0092 0.0036 0.0066 0 0.0066 0.0154 0.0071 . . 0.490 . 1.916 1.916000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.490 1.000 . 0.825 . 0.807 1.916 0.991 0.015 . . rs140289143 rs140289143 1 1538 10 1/0 0,255,255 +rs77195353 10 97137021 G A - SORBS1 14565 Sorbin and SH3 domain containing 1 NM_001034954.1 -1 7210 3879 NP_001030126.1 Q9BX66 substitution intron GRCh37 97137021 97137021 Chr10(GRCh37):g.97137021G>A 1654-1208 1654-1208 NM_001034954.1:c.1654-1208C>T p.? p.? 17 16 605264 -1208 3' 67.7194 4.1621 0.528049 0 67.7194 4.1621 0.528049 0 0 rs77195353 yes no Frequency/1000G 2 G 0.000000 0 0.006589 0.000800 0.002000 0.000000 0.022900 0.010100 0.009460 0.002290 0.011933 0.016556 0.000000 0.000000 0.014794 0.008300 0.007128 0.016556 293 20 10 5 0 0 222 29 7 30974 8734 838 302 1618 0 15006 3494 982 0.010239 0.000000 0.000000 0.000000 0.000000 0.000000 0.013514 0.000000 0.000000 3 0 0 0 0 0 3 0 0 287 20 10 5 0 0 216 29 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.609 255 PASS 0.0041 0.01 0.01 . 0.01 0.0008 0.0066 0.01 . 0.023 0.002 . . . . . 0.41509435 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.2254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0066 . . . 0.27 0.26 182 ENSG00000095637 SORBS1 SORBS1 . . . . . . 1149 0.0176835 64976 1116 0.0186043 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77195353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.V . . . . . . . . . 0.0023 0.0095 0.0119 0.0166 0 0.0083 0.0148 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs77195353 rs77195353 1 1538 10 1/0 0,255,255 +. 10 99213455 C T - ZDHHC16 20714 Zinc finger, DHHC-type containing 16 NM_032327.3 1 1841 1134 NP_115703.2 Q969W1 substitution intron GRCh37 99213455 99213455 Chr10(GRCh37):g.99213455C>T 690+35 690+35 NM_032327.3:c.690+35C>T p.? p.? 6 6 616750 35 5' 86.8044 8.70331 0.979158 I.04 86.8044 8.70331 0.979158 1.41059 0 Cryptic Acceptor Strongly Activated 99213473 0.000134 66.8871 0.029852 0.000156 66.8871 transition C T C>T 0.000 1.335 255 PASS . . . . . . . . . . . . . . . . 0.5205479 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.6654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000171307 ZDHHC16 ZDHHC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +rs780026074 10 101610499 A G - ABCC2 53 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392.4 1 5446 4638 NP_000383.1 Q92887 substitution missense exon GRCh37 101610499 101610499 Chr10(GRCh37):g.101610499A>G 4454 4454 NM_000392.4:c.4454A>G p.His1485Arg p.His1485Arg 31 601107 -55 5' 83.5016 9.09532 0.945114 X.23 83.5016 9.09532 0.945114 X.06 0 Cryptic Acceptor Strongly Activated 101610508 2.01995 0.009971 68.1958 2.53111 0.013694 68.1958 ABC transporter-like Multi drug resistance-associated protein ATPase, AAA+ type, core rs780026074 yes no Frequency 1 A uncertain_significance 0.000000 0 0.000047 0.000042 0.000000 0.000000 0.000000 0.000000 0.000087 0.000000 0.000155 0.000087 13 1 0 0 0 0 11 0 1 277234 24034 34420 10152 18870 30782 126714 25794 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 0 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000266434.1 germline clinical testing VUS 1 Dubin-Johnson syndrome transition A G A>G 1.000 3.192 H His CAC 0.587 R Arg CGC 0.190 1485 12 6 Zebrafish 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 231.68 28.37 Tolerated 0.07 III.13 255 PASS . . . . . . . . . . . ENSG00000023839:ENST00000370449:exon31:c.A4454G:p.H1485R ABCC2:uc001kqf.2:exon31:c.A4454G:p.H1485R ABCC2:NM_000392:exon31:c.A4454G:p.H1485R . . 0.4385965 . . germline 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.499 . Uncertain//\@significance Uncertain_significance RCV000266434.1 Dubin-Johnson_syndrome MedGen:OMIM:Orphanet:SNOMED_CT C0022350:237500:ORPHA234:44553005 1 0.502 . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H1485R|ABCC2|mRNA|CODING|NM_000392|NM_000392.ex.31) . . . . . . . -0.0659 0.133 -0.066 c . . . . . 1.578e-05 . . . 0 2.204e-05 0 0 0 4.746e-05 0 0 0 9.415e-06 0 0 0 1.84e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.770 . . exonic exonic exonic . . 0.655 @ . . . . . . ENSG00000023839 ABCC2 ABCC2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.368 . . . . D 0.548 0.033 . . 37 . 0.610 . . 0.637 . . . 0.103 0.337 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.267 . . 0.275 . . . . . . 0 0.555 . . . . . 0.696 . 0.195 . HET 0.01 rs780026074 . . . . . . . . . . . . 14.8293 . ENST00000370449 IV.98 IV.98 . 0.010000 Q92887 . . . . . 0.460 . . IV.98 0 3.655e-05 0 0 0 0 7.162e-05 0.0002 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . 0.197 . 2.090 2.090000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.407 0.995 . 0.709 . 0.885 2.090 1.058 . . . . . 1 1538 10 1/0 0,252,255 +rs372003127 10 101639989 C T - DNMBP 30373 Dynamin binding protein NM_015221.3 -1 6440 4734 NP_056036.1 Q6XZF7 substitution missense exon GRCh37 101639989 101639989 Chr10(GRCh37):g.101639989C>T 4127 4127 NM_015221.3:c.4127G>A p.Arg1376His p.Arg1376His 16 611282 130 3' 84.6508 9.71778 0.899785 9.63838 84.6508 9.71778 0.899785 9.63838 0 rs372003127 yes no Frequency 1 C 0.000000 0 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 0.000047 6 0 0 0 0 0 6 0 0 277158 24030 34418 10152 18868 30778 126664 25780 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 70 transition G A G>A 0.992 5.048 R Arg CGC 0.190 H His CAC 0.587 1376 12 10 Zebrafish 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 244.41 0.00 Deleterious 0.04 III.32 255 PASS . . . . . . . . . . . . . DNMBP:NM_015221:exon16:c.G4127A:p.R1376H . . 0.41584158 . . @ 42 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.956 . @ . . . . . 1 1.000 . . 101.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1376H|DNMBP|mRNA|CODING|NM_015221|NM_015221.ex.16) . 0.0001 0.0001 . 0.0001 0.0001 . 0.6969 0.667 0.697 c . . . . . 2.368e-05 . . . 0 1.106e-05 0 0 0 2.385e-05 0 0 0 2.832e-05 0 0 0 5.539e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.194 . . exonic exonic exonic . . 0.786 @ . . . 0.34 0.4 182 ENSG00000107554 DNMBP DNMBP . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.421 . . . . D 0.749 0.087 . . 37 . 0.632 . . 0.641 . . . 0.691 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.682 . . . . . 0.852 . 0.703 . HET 0 rs372003127 . . . . . . . . . . . . 16.7312 0.0 . V.42 V.42 . 0.070000 . . . Name\x3dnsv831960 0.000077 . 0.771 . . V.42 0 2.031e-05 0 0 0 0 4.477e-05 0 0 0 3.23e-05 0 0 0 0 6.669e-05 0 . . 0.522 . 2.551 2.551000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.277 0.596 . 0.615 . 0.450 2.551 0.868 0.0001 . . rs372003127 . 1 1538 10 1/0 0,255,255 +rs764609123 10 102766476 G A - LZTS2 29381 Leucine zipper, putative tumor suppressor 2 NM_001318099.1 1 2782 2010 NP_001305028.1 Q9BRK4 substitution missense exon GRCh37 102766476 102766476 Chr10(GRCh37):g.102766476G>A 1561 1561 NM_001318099.1:c.1561G>A p.Glu521Lys p.Glu521Lys 5 610454 235 3' 79.5733 XI.29 0.88818 14.9478 79.5733 XI.29 0.88818 14.9478 0 rs764609123 yes no Frequency 1 G 0.000000 0 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 0.000095 11 0 0 0 0 0 11 0 0 258302 22548 32876 9412 18262 29650 115498 24032 6024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.992 4.160 E Glu GAG 0.583 K Lys AAG 0.575 521 12 9 Zebrafish 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 135.14 34.45 Deleterious 0.05 3.VI 255 PASS . . . . . . . . . . . . . LZTS2:NM_032429:exon5:c.G1561A:p.E521K . . 0.42553192 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.980 . . 47.0 . . . . . . . . . . 0.4517 0.461 0.452 c . . . . . 3.167e-05 . . . 0 6.553e-05 0 0 0 0.0001 0 0 0 4.154e-05 0 0 0 7.692e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.512 . . exonic exonic exonic . . 0.572 @ . . . . . . ENSG00000107816 LZTS2 LZTS2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.348 . . . . T 0.442 0.021 . . 37 . 0.552 . . 0.508 . . . 0.743 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . 0.518 . . 0.585 . . . . . . 1 0.546 . . . . . 0.676 . 0.533 . HET 0.01 rs764609123 . . . . . . . . . . . . 14.5681 . . V.56 IV.64 . 0.300000 Q9BRK4 . . . . . 0.751 . . IV.64 0 3.958e-05 0 0 0 0 8.955e-05 0 0 0 6.464e-05 0 0 0 0 0.0001 0 . . 0.924 . 1.304 1.304000 . . 0.300000 . . 1.0E-255 1.000 0.715 . 0.381 0.735 . 0.631 . 0.162 1.304 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs764609123 10 102766476 G A - PDZD7 26257 PDZ domain containing 7 NM_001195263.1 -1 4136 3102 NP_001182192.1 substitution downstream GRCh37 102766476 102766476 Chr10(GRCh37):g.102766476G>A *1748 *1748 NM_001195263.1:c.*1748C>T p.? p.? 17 612971 2132 3' 72.3057 8.05734 0.870466 VII.12 72.3057 8.05734 0.870466 VII.12 0 rs764609123 yes no Frequency 1 G 0.000000 0 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 0.000095 11 0 0 0 0 0 11 0 0 258302 22548 32876 9412 18262 29650 115498 24032 6024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 4.160 255 PASS . . . . . . . . . . . . . LZTS2:NM_032429:exon5:c.G1561A:p.E521K . . 0.42553192 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.980 . . 47.0 . . . . . . . . . . 0.4517 0.461 0.452 c . . . . . 3.167e-05 . . . 0 6.553e-05 0 0 0 0.0001 0 0 0 4.154e-05 0 0 0 7.692e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.512 . . exonic exonic exonic . . 0.572 @ . . . . . . ENSG00000107816 LZTS2 LZTS2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.348 . . . . T 0.442 0.021 . . 37 . 0.552 . . 0.508 . . . 0.743 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . 0.518 . . 0.585 . . . . . . 1 0.546 . . . . . 0.676 . 0.533 . HET 0.01 rs764609123 . . . . . . . . . . . . 14.5681 . . V.56 IV.64 . 0.300000 Q9BRK4 . . . . . 0.751 . . IV.64 0 3.958e-05 0 0 0 0 8.955e-05 0 0 0 6.464e-05 0 0 0 0 0.0001 0 . . 0.924 . 1.304 1.304000 . . 0.300000 . . 1.0E-255 1.000 0.715 . 0.381 0.735 . 0.631 . 0.162 1.304 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs564150396 10 102770315 A G - PDZD7 26257 PDZ domain containing 7 NM_001195263.1 -1 4136 3102 NP_001182192.1 substitution synonymous exon GRCh37 102770315 102770315 Chr10(GRCh37):g.102770315A>G 2331 2331 NM_001195263.1:c.2331T>C p.Arg777= p.Arg777Arg 15 612971 -287 5' 91.5096 8.83039 0.995433 7.93504 91.5096 8.83039 0.995433 7.93504 0 rs564150396 yes no Frequency 1 G 0.000000 0 0.000167 0.000069 0.000257 0.000000 0.000000 0.000145 0.000251 0.000000 0.000000 0.000257 25 1 6 0 0 3 15 0 0 149476 14556 23360 7452 11392 20682 59722 7986 4326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 1 6 0 0 3 15 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.024 -0.844 R Arg CGT 0.082 R Arg CGC 0.190 777 222 PASS . . . . . . . . . . . . PDZD7:uc021pxc.1:exon15:c.T2331C:p.R777R PDZD7:NM_001195263:exon15:c.T2331C:p.R777R . . 0.21904762 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.6770 . . . . . . . . 6.431e-04 . . . 0 0.0004 0 0 0 0 0 0.0007 0 0.0005 0 0 0 0 0 0.0007 . synonymous_SNV synonymous_SNV . . . UTR3 exonic exonic . . . @ . . . . . . ENSG00000186862 PDZD7 PDZD7 ENST00000474125:c.*2278T>C . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs564150396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0.0003 0 0 0 8.838e-05 0 0.0001 0.0001 0.0004 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +rs7923674 10 104235808 G T - MFSD13A 26196 Major facilitator superfamily domain containing 13A NM_024789.3 1 2834 1554 NP_079065.2 Q14CX5 substitution 3'UTR GRCh37 104235808 104235808 Chr10(GRCh37):g.104235808G>T *67 *67 NM_024789.3:c.*67G>T p.? p.? 10 330 3' 83.3797 XI.95 0.967874 10.0263 83.3797 XI.95 0.967874 10.0263 0 rs7923674 yes no Frequency/1000G 2 0.000000 0 0.369609 0.240500 0.411000 0.437500 0.374800 0.451000 0.000896 0.000527 0.000000 0.000000 0.000000 0.000000 0.000932 0.004847 0.000000 0.004847 21 4 0 0 0 0 11 6 0 23436 7594 478 262 1404 0 11808 1238 652 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion G T G>T 0.268 0.044 255 PASS . . . . . 0.24 0.37 0.45 0.44 0.37 0.41 . . . . . 0.7777778 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 9.0 . . . . . . . . . . -0.4632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.3696 . . . 0.4 0.67 182 ENSG00000138111 TMEM180 MFSD13A . . NM_024789:c.*67G>T . . . 639 0.0098344 64976 493 0.00821858 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7923674 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv895970 . . . . . . . . . . . . . . . 0.0005 0.0009 0 0 0 0.0048 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs7923674 . 1 1538 10 1/0 0,255,255 +rs74400964 10 111877234 A G - ADD3 245 Adducin 3 NM_001320591.1 1 4382 2121 NP_001307520.1 Q9UEY8 substitution intron GRCh37 111877234 111877234 Chr10(GRCh37):g.111877234A>G 567+54 567+54 NM_001320591.1:c.567+54A>G p.? p.? 6 6 601568 54 5' 59.7068 0 0.037326 0 59.7068 0 0.037326 0 0 rs74400964 yes no Frequency/1000G 2 0.000000 0 0.003594 0.003000 0.001000 0.000000 0.008000 0.007200 0.005945 0.001031 0.010740 0.003311 0.000000 0.000000 0.006805 0.015777 0.008163 0.015777 184 9 9 1 0 0 102 55 8 30948 8730 838 302 1622 0 14990 3486 980 0.010870 0.000000 0.111111 0.000000 0.000000 0.000000 0.000000 0.018182 0.000000 2 0 1 0 0 0 0 1 0 180 9 7 1 0 0 102 53 8 0 0 0 0 0 0 0 0 0 PASS 38 Genomes 3159 1381 4540 23 3 26 0.00722816 0.00216763 0.00569426 0.00722816 0.00216763 0.00569426 79 transition A G A>G 0.000 1.497 255 PASS 0.002 0.0037 0.01 . 0.01 0.003 0.0036 0.0072 . 0.008 0.001 . . . . . 0.4117647 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0022 0.0057 0.0072 0.0022 0.0057 0.0072 . 0.5839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.69 0.22 182 ENSG00000148700 ADD3 ADD3 . . . . . . 485 0.00746429 64976 467 0.00778515 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74400964 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7211 0.005694 . . . . III.94 . . . . . . . . . 0.0010 0.0059 0.0107 0.0033 0 0.0158 0.0068 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs74400964 rs74400964 1 1538 10 1/0 0,255,255 +rs55796896 10 114057872 T C - MIR6715A 49996 MicroRNA 6715a NR_106771.1 1 79 0 substitution upstream GRCh37 114057872 114057872 Chr10(GRCh37):g.114057872T>C -1498 -1498 NR_106771.1:n.-1498T>C p.? p.? 1 rs55796896 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.006000 0.002900 0.002121 0.000791 0.001772 0.000591 0.000000 0.000682 0.003592 0.000388 0.002474 0.003592 588 19 61 6 0 21 455 10 16 277194 24030 34420 10148 18868 30782 126688 25790 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 586 19 61 6 0 21 453 10 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4400 12961 39 6 45 0.00453488 0.00136178 0.00345994 0.00453488 0.00136178 0.00345994 149 transition T C T>C 0.142 -1.651 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0029 . 0.006 . ENSG00000119913:ENST00000369422:exon7:c.T717C:p.D239D TECTB:uc001kzr.1:exon7:c.T717C:p.D239D TECTB:NM_058222:exon7:c.T717C:p.D239D . . 0.4122807 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . 0.0014 0.0035 0.0045 0.0014 0.0035 0.0045 . 0.6218 . . . . . . . . 1.981e-03 . . . 0.0010 0.0022 0.0016 0 0.0008 0.0038 0.0014 0.0005 0.0011 0.0018 0.0015 0 0.0005 0.0028 0.0014 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.33 0.13 182 ENSG00000119913 TECTB TECTB . . . . . . 187 0.00287799 64976 179 0.00298403 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs55796896 . . . . . . . . . . . . . . . . . . . . . . . 0.003460 . . . . . 0.0009 0.0022 0.0018 0.0006 0 0.0004 0.0036 0.0026 0.0007 0.0006 0.0019 0.0012 0 0 0 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0045 rs55796896 rs55796896 rs55796896 rs55796896 1 1538 10 1/0 0,246,255 +rs55796896 10 114057872 T C - MIR6715B 50249 MicroRNA 6715b NR_106772.1 -1 77 0 substitution downstream GRCh37 114057872 114057872 Chr10(GRCh37):g.114057872T>C *1498 *1498 NR_106772.1:n.*1498A>G p.? p.? 1 rs55796896 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.006000 0.002900 0.002121 0.000791 0.001772 0.000591 0.000000 0.000682 0.003592 0.000388 0.002474 0.003592 588 19 61 6 0 21 455 10 16 277194 24030 34420 10148 18868 30782 126688 25790 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 586 19 61 6 0 21 453 10 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4400 12961 39 6 45 0.00453488 0.00136178 0.00345994 0.00453488 0.00136178 0.00345994 149 transition A G A>G 0.142 -1.651 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0029 . 0.006 . ENSG00000119913:ENST00000369422:exon7:c.T717C:p.D239D TECTB:uc001kzr.1:exon7:c.T717C:p.D239D TECTB:NM_058222:exon7:c.T717C:p.D239D . . 0.4122807 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . 0.0014 0.0035 0.0045 0.0014 0.0035 0.0045 . 0.6218 . . . . . . . . 1.981e-03 . . . 0.0010 0.0022 0.0016 0 0.0008 0.0038 0.0014 0.0005 0.0011 0.0018 0.0015 0 0.0005 0.0028 0.0014 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.33 0.13 182 ENSG00000119913 TECTB TECTB . . . . . . 187 0.00287799 64976 179 0.00298403 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs55796896 . . . . . . . . . . . . . . . . . . . . . . . 0.003460 . . . . . 0.0009 0.0022 0.0018 0.0006 0 0.0004 0.0036 0.0026 0.0007 0.0006 0.0019 0.0012 0 0 0 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0045 rs55796896 rs55796896 rs55796896 rs55796896 1 1538 10 1/0 0,246,255 +rs55796896 10 114057872 T C - TECTB 11721 Tectorin beta NM_058222.2 1 2792 990 NP_478129.1 Q96PL2 substitution synonymous exon GRCh37 114057872 114057872 Chr10(GRCh37):g.114057872T>C 717 717 NM_058222.2:c.717T>C p.Asp239= p.Asp239Asp 7 602653 46 3' 75.3908 6.24126 0.785392 8.00726 75.3908 6.24126 0.785392 8.32781 0 Zona pellucida sperm-binding protein rs55796896 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.006000 0.002900 0.002121 0.000791 0.001772 0.000591 0.000000 0.000682 0.003592 0.000388 0.002474 0.003592 588 19 61 6 0 21 455 10 16 277194 24030 34420 10148 18868 30782 126688 25790 6468 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 586 19 61 6 0 21 453 10 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8561 4400 12961 39 6 45 0.00453488 0.00136178 0.00345994 0.00453488 0.00136178 0.00345994 149 transition T C T>C 0.142 -1.651 D Asp GAT 0.461 D Asp GAC 0.539 239 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0029 . 0.006 . ENSG00000119913:ENST00000369422:exon7:c.T717C:p.D239D TECTB:uc001kzr.1:exon7:c.T717C:p.D239D TECTB:NM_058222:exon7:c.T717C:p.D239D . . 0.4122807 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . 0.0014 0.0035 0.0045 0.0014 0.0035 0.0045 . 0.6218 . . . . . . . . 1.981e-03 . . . 0.0010 0.0022 0.0016 0 0.0008 0.0038 0.0014 0.0005 0.0011 0.0018 0.0015 0 0.0005 0.0028 0.0014 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.33 0.13 182 ENSG00000119913 TECTB TECTB . . . . . . 187 0.00287799 64976 179 0.00298403 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs55796896 . . . . . . . . . . . . . . . . . . . . . . . 0.003460 . . . . . 0.0009 0.0022 0.0018 0.0006 0 0.0004 0.0036 0.0026 0.0007 0.0006 0.0019 0.0012 0 0 0 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0045 rs55796896 rs55796896 rs55796896 rs55796896 1 1538 10 1/0 0,246,255 +. 10 115485541 C A - CASP7 1508 Caspase 7 NM_001267057.1 1 2622 1167 NP_001253986.1 substitution intron GRCh37 115485541 115485541 Chr10(GRCh37):g.115485541C>A 807+245 807+245 NM_001267057.1:c.807+245C>A p.? p.? 5 5 601761 245 5' 81.8287 6.98734 0.856403 0 81.8287 6.98734 0.856403 0 0 transversion C A C>A 0.441 0.528 252 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000165806 CASP7 CASP7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 10 115950812 G C - TDRD1 11712 Tudor domain containing 1 NM_198795.1 1 4510 3570 NP_942090.1 substitution intron GRCh37 115950812 115950812 Chr10(GRCh37):g.115950812G>C 384+34 384+34 NM_198795.1:c.384+34G>C p.? p.? 3 3 605796 34 5' 78.5672 8.54212 0.950217 0 78.5672 8.54212 0.950217 0 0 Cryptic Acceptor Strongly Activated 115950819 1.73836 0.00071 68.5957 3.39628 0.003325 72.1529 transversion G C G>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.53333336 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||TDRD1|mRNA|CODING|NM_198795|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000095627 TDRD1 TDRD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs369534363 10 117971143 C G - GFRA1 4243 GDNF family receptor alpha 1 NM_001348097.1 -1 9600 1398 NP_001335026.1 P56159 substitution missense exon GRCh37 117971143 117971143 Chr10(GRCh37):g.117971143C>G 433 433 NM_001348097.1:c.433G>C p.Val145Leu p.Val145Leu 5 601496 -1 5' 99.6933 X.84 0.997678 2.32649 86.3823 X.52 0.992933 0 -0.0540667 rs369534363 yes no Frequency 1 C 0.000000 0 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 0.000111 8 0 0 0 0 0 8 0 0 179484 16298 24770 8530 11854 22808 71952 18482 4790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4233 2006 6239 1 0 1 0.000236183 0 0.000160256 0.000236183 0 0.000160256 85 transversion G C G>C 1.000 1.981 V Val GTG 0.468 L Leu CTG 0.404 145 12 7 Dog 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 262.60 16.18 Tolerated 0.33 III.53 255 PASS . . . . . . . . . . . . GFRA1:uc001lcj.3:exon5:c.G433C:p.V145L GFRA1:NM_005264:exon5:c.G433C:p.V145L . . 0.4878049 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.347 . @ . . . . . 1 0.441 . . 41.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.0341 0.172 -0.034 c . . . . . 1.095e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 6.632e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.293 . . exonic exonic exonic . . 0.640 @ . . . 0.22 0.37 182 ENSG00000151892 GFRA1 GFRA1 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.357 0.015 . . 37 . 0.398 . . 0.207 . . . 0.281 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.154 . . 0.139 . . . . . . 2 . . . . . . 0.400 . 0.408 . HET 0.36 rs369534363 . . . . . . . . . . . . IX.04 0.0 ENST00000439649 V.82 IV.92 . . P56159 0.9737 0.714 . 0.000160 . 0.369 . . IV.92 0 4.713e-05 0 0 0 0 0.0001 0 0 0 3.23e-05 0 0 0 0 6.666e-05 0 . . 0.133 . 2.748 2.748000 . . . . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.420 . 0.490 2.748 0.871 0.0002 . . rs369534363 . 1 1538 10 1/0 0,255,255 +rs3010502 10 118380511 A G - PNLIPRP2 9157 Pancreatic lipase-related protein 2 NR_103727.1 1 1480 0 substitution intron GRCh37 118380511 118380511 Chr10(GRCh37):g.118380511A>G 26+21 26+21 NR_103727.1:n.26+21A>G p.? p.? 1 1 604423 21 5' 91.1822 11.0134 0.995469 8.05115 91.1822 11.0134 0.995469 8.83385 0 Cryptic Acceptor Strongly Activated 118380516 0.854647 0.000625 2.13841 0.000635 73.204 rs3010502 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999960 0.999957 1.000000 1.000000 0.999773 0.999922 0.999974 1.000000 1.000000 1.000000 251188 23185 29750 8184 17620 25632 117431 23604 5782 251198 23186 29750 8184 17624 25634 117434 23604 5782 0.999920 0.999914 1.000000 1.000000 0.999546 0.999844 0.999949 1.000000 1.000000 125589 11592 14875 4092 8808 12815 58714 11802 2891 10 1 0 0 4 2 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 1 1 8278 3919 12197 0 0.000255102 8.19807e-05 1 0.999745 0.999918 31 transition A G A>G 0.000 -0.521 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . 1. 1. 1. 1. 1. 1. . . . . . . . . . . 1.000 . . . 0.9998 1.0000 1 0.9998 1 1.0000 1 1 0.9997 0.9999 1 0.9997 1 1.0000 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.28 0.29 182 ENSG00000165862 PNLIPRP2 PNLIPRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . 0.999918 . . . . . 0.9999 1.0000 1 1 0.9998 1 1.0000 1 0.9999 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs3010502 rs3010502 rs3010502 rs3010502 1 1538 255 1.I 0,0,255 +rs142496257 10 123792509 A T - TACC2 11523 Transforming, acidic coiled-coil containing protein 2 NM_206862.3 1 9696 8847 NP_996744.3 O95359 substitution intron GRCh37 123792509 123792509 Chr10(GRCh37):g.123792509A>T 33+10980 33+10980 NM_206862.3:c.33+10980A>T p.? p.? 2 2 605302 10980 5' 85.557 8.56441 0.888827 8.63373 85.557 8.56441 0.888827 8.63373 0 rs142496257 yes no Frequency/1000G 2 0.000000 0 0.000079 0.000000 0.000000 0.000000 0.000000 0.000000 0.000076 0.000319 0.000000 0.000319 2 0 0 0 0 0 1 1 0 25166 5560 700 284 1386 0 13244 3134 858 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 52 Genomes transversion A T A>T 0.000 0.367 251 PASS 0.01 0.12 0.13 0.12 0.18 . . . . . . . . . . . 0.31578946 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.1 182 ENSG00000138162 TACC2 TACC2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142496257 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832009 . . . . . . . . . . . . . . . 0 7.947e-05 0 0 0 0.0003 7.551e-05 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . 0.18 . . rs142496257 rs142496257 1 1538 10 1/0 0,255,255 +rs61753073 10 123845115 G A - TACC2 11523 Transforming, acidic coiled-coil containing protein 2 NM_206862.3 1 9696 8847 NP_996744.3 O95359 substitution missense exon GRCh37 123845115 123845115 Chr10(GRCh37):g.123845115G>A 3100 3100 NM_206862.3:c.3100G>A p.Glu1034Lys p.Glu1034Lys 4 605302 -2360 5' 76.822 8.17044 0.764444 7.74994 76.822 8.17044 0.764444 7.74994 0 rs61753073 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.003078 0.000632 0.001540 0.015919 0.000000 0.000877 0.004358 0.000582 0.004653 0.015919 849 15 53 161 0 27 548 15 30 275852 23728 34412 10114 18844 30778 125738 25790 6448 0.000007 0.000000 0.000000 0.000198 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 847 15 53 159 0 27 548 15 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4403 12952 51 3 54 0.00593023 0.00068089 0.00415193 0.00593023 0.00068089 0.00415193 37 COSM228139|COSM228139 Skin|Large intestine 0.000812|0.000443 1232|2257 transition G A G>A 0.575 1.820 E Glu GAG 0.583 K Lys AAG 0.575 1034 12 7 Dog 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Deleterious 0 III.81 255 PASS . 0.0009 . . 0.0026 . 0.0012 0.0014 . 0.005 . . . . . . 0.33333334 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.289 . @ . . . . . 1 0.959 . . 117.0 . . . 0.0007 0.0042 0.0059 0.0007 0.0042 0.0059 . -0.2397 -0.286 -0.240 c . . . . . 3.191e-03 . . . 0.0006 0.0033 0.0015 0 0.0003 0.0062 0.0028 0.0008 0.0006 0.0031 0.0015 0 0.0005 0.0054 0.0029 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.048 . . exonic exonic exonic . . 0.500 0.0012 . . . 0.5 0.44 182 ENSG00000138162 TACC2 TACC2 . . . 1.000 0.747 . 244 0.00375523 64976 238 0.00396759 59986 Uncertain_significance . 0 . 0.372 . . . . T 0.127 0.005 . . 37 . 0.037 . . 0.244 . . . 0.440 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.214 . . 0 0 0 0 0 0 . 0.467 . . 0.374 . . . . . . 1 0.912 . . . . . 0.395 . 0.628 . HET 0 rs61753073 . 0.058 . . . . ID\x3dCOSM228139\x3bOCCURENCE\x3d1(skin) 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IX.49 8.03E-4 . V.25 IV.28 . 0.030000 . . . . 0.004152 . 0.201 . . IV.28 0.0004 0.0032 0.0016 0.0161 0 0.0006 0.0045 0.0051 0.0009 0.0010 0.0021 0 0.0099 0 0.0006 0.0033 0.0020 . . 0.372 . 1.098 1.098000 . . 0.030000 . . 1.0E-255 0.003 0.159 . 0.259 0.018 . 0.283 . 0.658 1.098 0.917 0.0059 rs61753073 rs61753073 rs61753073 rs61753073 1 1538 10 1/0 0,239,255 +rs141757453 10 124342118 C T - DMBT1 2926 Deleted in malignant brain tumors 1 NM_007329.2 1 7686 7242 NP_015568.2 Q9UGM3 substitution missense exon GRCh37 124342118 124342118 Chr10(GRCh37):g.124342118C>T 1069 1069 NM_007329.2:c.1069C>T p.Pro357Ser p.Pro357Ser 13 601969 3 3' 84.4429 11.0685 0.953467 7.73274 84.4429 11.282 0.950918 VII.31 0.00553877 Speract/scavenger receptor-related rs141757453 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -0.198 P Pro CCT 0.283 S Ser TCT 0.185 357 11 3 Grenn anole -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.7 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.4659091 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.066 . . 88.0 . . . . . . . . . . -1.4768 -1.510 -1.477 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.267 . . exonic exonic exonic . . 0.063 @ . . . 0.42 0.38 182 ENSG00000187908 DMBT1 DMBT1 . . . 0.000 0.050 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.119 0.005 . . 37 . 0.094 . . 0.331 . . . 0.033 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.181 . . 0 0 0 0 0 0 . 0.090 . . 0.080 . . . . . . 1 0.032 . . . . . 0.017 . 0.036 . HET 0.59 rs141757453 . . . . . . . . . . . . 1.1471 . . 3.VI -2.35 . 0.430000 . . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.314 -0.314000 . . 0.430000 . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.020 . 0.006 -0.314 -2.628 . rs2277240 rs2277240 rs2277240 rs141757453 1 1538 10 1/0 0,255,255 +rs144450471 10 124354821 C T - DMBT1 2926 Deleted in malignant brain tumors 1 NM_007329.2 1 7686 7242 NP_015568.2 Q9UGM3 substitution missense exon GRCh37 124354821 124354821 Chr10(GRCh37):g.124354821C>T 2566 2566 NM_007329.2:c.2566C>T p.Pro856Ser p.Pro856Ser 23 601969 3 3' 84.4429 11.0685 0.953467 7.73274 84.4429 11.282 0.950918 VII.31 0.00553877 Speract/scavenger receptor-related rs144450471 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition C T C>T 0.000 -2.700 P Pro CCT 0.283 S Ser TCT 0.185 856 11 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Not scored 0.0 0.0 good 9.706E-1 0.627 255 PASS . . . . . . . . . . . . . . . . 0.3783784 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.078 . . 74.0 . . . . . . . . . . -2.4737 -2.532 -2.474 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.267 . . exonic exonic exonic . . 0.015 @ . . . 0.46 0.47 182 ENSG00000187908 DMBT1 DMBT1 . . . 0.193 0.180 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.127 0.005 . . 37 . 0.093 . . 0.306 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.167 . . 0.179 . . . . . . 0 0.026 . . . . . 0.189 . 0.024 . HET 0.75 rs144450471 . . . . . . . . . . . . 6.0494 . . III.42 -6.85 . 0.660000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.693 -2.693000 . . 0.660000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.001 . 0.000 -2.693 -2.429 . rs2277240 rs2277240 rs2277240 rs144450471 1 1538 10 1/0 0,255,255 +rs76203768 10 126683151 C T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683151 126683151 Chr10(GRCh37):g.126683151C>T 2287 2287 NM_022802.2:c.2287G>A p.Val763Met p.Val763Met 5 602619 102 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.28141 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs76203768 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000027 3 0 0 0 0 0 3 0 0 246106 15304 33582 9850 17248 30782 111558 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 80 Exomes COSM1603119|COSM1603119|COSM1603119|COSM1603119|COSM1603119 Thyroid|Liver|Large intestine|Central nervous system|Bone 0.001339|0.000844|0.002505|0.002495|0.001757 747|2371|2395|2405|569 transition G A G>A 1.000 5.613 V Val GTG 0.468 M Met ATG 1.000 763 13 9 Zebrafish 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 252.82 0.00 Deleterious 0.03 III.35 good 1.068E-2 0.006679 255 PASS . . . . . . . . . . . . . . . . 0.39112905 . . @ 97 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.867 . . 248.0 . . . . . . . . . . 0.4531 0.509 0.453 c . . . . . 1.579e-05 . . . . . . . . . . . 0 1.883e-05 0 0 0 3.68e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.809 . . exonic exonic exonic . . 0.786 @ . . . 0.4 0.32 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.839 0.158 . . 37 . 0.834 . . 0.854 . . . 0.622 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.615 . . 0.512 . . . . . . 0 0.564 . . . . . 0.938 . 0.850 . HET 0 rs76203768 . . . . . . . . . . . . 19.2243 . . V.42 V.42 . 0.000000 . . . . . . 0.473 . . V.42 0 1.219e-05 0 0 0 0 2.689e-05 0 0 . . . . . . . . . . 0.854 . 2.539 2.539000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.555 . 0.173 2.539 0.871 . . . rs76203768 rs76203768 1 1538 10 1/0 0,212,242 +rs78653489 10 126683152 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126683152 126683152 Chr10(GRCh37):g.126683152G>A 2286 2286 NM_022802.2:c.2286C>T p.Gly762= p.Gly762Gly 5 602619 101 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.28141 0 Cryptic Donor Strongly Activated 126683154 54.0176 2.34173 0.039164 66.5966 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs78653489 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246112 15304 33582 9850 17248 30782 111564 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 80 Exomes COSM3790575|COSM3790575|COSM3790575 Urinary tract|Liver|Large intestine 0.001488|0.000422|0.000835 672|2371|2395 transition C T C>T 1.000 1.981 G Gly GGC 0.342 G Gly GGT 0.162 762 215 PASS . . . . . . . . . . . . . . . . 0.199187 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . . . . . . . . . . 7.893e-06 . . . 0 1.102e-05 0 0 0 2.373e-05 0 0 0 9.416e-06 0 0 0 1.84e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.3 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78653489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.42 0 4.063e-06 0 0 0 0 8.963e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . rs78653489 rs78653489 1 1538 10 1/0 0,196,255 +rs75420260 10 126683162 C T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683162 126683162 Chr10(GRCh37):g.126683162C>T 2276 2276 NM_022802.2:c.2276G>A p.Arg759Gln p.Arg759Gln 5 602619 91 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.28141 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs75420260 no no 0 C 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246148 15304 33582 9850 17248 30782 111600 22300 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 80 Exomes COSM3746205|COSM3746205|COSM3746205 Thyroid|Liver|Large intestine 0.001339|0.000422|0.002505 747|2371|2395 transition G A G>A 1.000 5.613 R Arg CGG 0.207 Q Gln CAG 0.744 759 13 9 Zebrafish 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 257.76 0.00 Tolerated 0.06 III.35 bad 4.911E-3 0.000132 255 PASS . . . . . . . . . . . . . . . . 0.38671875 . . @ 99 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.837 . @ . . . . . 1 0.972 . . 256.0 . . . . . . . . . . 0.3426 0.473 0.343 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.799 . . exonic exonic exonic . . 0.786 @ . . . 0.4 0.34 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.760 0.093 . . 37 . 0.737 . . 0.772 . . . 0.124 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.633 . . 0 0 0 0 0 0 . 0.566 . . 0.460 . . . . . . 0 0.453 . . . . . 0.938 . 0.893 . HET 0.01 rs75420260 . . . . . . . . . . . . 19.2243 . . V.42 V.42 . 0.070000 . . . . . . 0.566 . . V.42 0 4.063e-06 0 0 0 0 8.961e-06 0 0 . . . . . . . . . . 0.854 . 2.539 2.539000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.604 0.989 . 0.814 . 0.490 2.539 0.871 . . . rs75420260 rs75420260 1 1538 10 1/0 0,211,243 +rs78681531 10 126683190 C A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683190 126683190 Chr10(GRCh37):g.126683190C>A 2248 2248 NM_022802.2:c.2248G>T p.Asp750Tyr p.Asp750Tyr 5 602619 63 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 8.32461 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs78681531 no no 0 C 0.000000 0 COSM4144437|COSM4144437 Thyroid|Large intestine 0.001339|0.000418 747|2395 transversion G T G>T 1.000 5.613 D Asp GAC 0.539 Y Tyr TAC 0.562 750 13 12 Baker's yeast -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C15 213.16 137.89 Deleterious 0 III.35 bad 1.005E-4 9.06E-5 255 PASS . . . . . . . . . . . . . . . . 0.4063927 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.937 . @ . . . . . 1 0.700 . . 219.0 . . . . . . . . . . 1.0078 0.921 1.008 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.832 . . exonic exonic exonic . . 0.786 @ . . . 0.38 0.37 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.961 0.571 . . 37 . 0.942 . . 0.959 . . . 0.937 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.979 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.912 . . . . . 0.938 . 0.996 . HET 0 rs78681531 . . . . . . . . . . . . 19.2243 . . V.42 V.42 . 0.000000 . . . . . . 0.593 . . V.42 . . . . . . . . . . . . . . . . . . . 0.854 . 2.539 2.539000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.814 . 0.490 2.539 0.871 . . . rs78681531 rs78681531 1 1538 10 1/0 0,220,254 +rs74341800 10 126683197 T C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683197 126683197 Chr10(GRCh37):g.126683197T>C 2241 2241 NM_022802.2:c.2241A>G p.Ile747Met p.Ile747Met 5 602619 56 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.88181 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs74341800 no no 0 T 0.000000 0 COSM4144439 Thyroid 0.002677 747 transition A G A>G 0.992 -0.037 I Ile ATA 0.163 M Met ATG 1.000 747 13 10 C. elegans 2 1 2 0 0 5.II 5.VII 111 105 10 C0 234.77 8.IX Deleterious 0.02 III.35 bad 3.785E-3 0.0001014 255 PASS . . . . . . . . . . . . . . . . 0.33802816 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.604 . @ . . . . . 1 0.560 . . 213.0 . . . . . . . . . . -0.6054 -0.618 -0.605 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.819 . . exonic exonic exonic . . 0.051 @ . . . 0.33 0.31 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.559 . . . . D 0.712 0.071 . . 37 . 0.820 . . 0.753 . . . 0.390 0.443 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.495 . . 0 0 0 0 0 0 . 0.224 . . 0.442 . . . . . . 0 0.477 . . . . . 0.596 . 0.707 . HET 0.01 rs74341800 . . . . . . . . . . . . 13.3089 . . V.57 -2.99 . 0.020000 . . . . . . 0.211 . . . . . . . . . . . . . . . . . . . . . . 0.854 . -0.530 -0.530000 . . 0.020000 . . 1.0E-255 0.016 0.191 . 0.888 1.000 . 0.034 . 0.807 -0.530 0.991 . . . rs74341800 rs74341800 1 1538 10 1/0 0,215,255 +. 10 126683218 C T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126683218 126683218 Chr10(GRCh37):g.126683218C>T 2220 2220 NM_022802.2:c.2220G>A p.Lys740= p.Lys740Lys 5 602619 35 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.46624 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs958612432 no no 0 C 0.000000 0 COSM4144441|COSM4144441 Thyroid|Large intestine 0.001339|0.000418 747|2395 transition G A G>A 1.000 1.093 K Lys AAG 0.575 K Lys AAA 0.425 740 245 PASS . . . . . . . . . . . . . . . . 0.28773585 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 212.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +rs751118813 10 126683219 T G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683219 126683219 Chr10(GRCh37):g.126683219T>G 2219 2219 NM_022802.2:c.2219A>C p.Lys740Thr p.Lys740Thr 5 602619 34 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 9.65724 0 Cryptic Acceptor Strongly Activated 126683203 1.89516 0.000743 76.8549 5.12037 0.003177 76.8549 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs751118813 yes no Frequency 1 T 0.000000 0 COSM4144443|COSM4144443 Thyroid|Large intestine 0.002677|0.000418 747|2395 transversion A C A>C 1.000 4.644 K Lys AAG 0.575 T Thr ACG 0.116 740 13 11 Fruitfly -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 64.93 37.98 Deleterious 0.02 III.35 bad 5.667E-5 0.0001109 246 PASS . . . . . . . . . . . . . . . . 0.29353234 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.853 . @ . . . . . 1 0.895 . . 201.0 . . . . . . . . . . 0.7118 0.718 0.712 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.815 . . exonic exonic exonic . . 0.840 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.873 0.210 . . 37 . 0.865 . . 0.878 . . . 0.404 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.881 . . 0 0 0 0 0 0 . 0.689 . . 0.807 . . . . . . 0 0.721 . . . . . 0.775 . 0.814 . HET 0.01 . . . . . . . . . . . . . 15.7306 . . V.57 V.57 . 0.000000 . . . . . . 0.588 . . V.57 . . . . . . . . . . . . . . . . . . . 0.854 . 2.117 2.117000 . . 0.000000 . . 1.0E-246 1.000 0.715 . 0.888 1.000 . 0.830 . 0.807 2.117 0.991 . . . . . 1 1538 10 1/0 0,214,255 +rs879137309 10 126683225 C G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126683225 126683225 Chr10(GRCh37):g.126683225C>G 2213 2213 NM_022802.2:c.2213G>C p.Arg738Pro p.Arg738Pro 5 602619 28 3' 93.8646 X.12 0.994752 9.28141 93.8646 X.12 0.994752 8.57628 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs879137309 no no 0 C 0.000000 0 COSM1603121|COSM1603121 Liver|Central nervous system 0.000422|0.002079 2371|2405 transversion G C G>C 1.000 5.694 R Arg CGA 0.110 P Pro CCA 0.274 738 13 12 C. elegans -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C15 101.88 79.54 Deleterious 0.03 III.35 bad 2.066E-6 6.652E-5 170 PASS . . . . . . . . . . . . . . . . 0.22488038 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.953 . @ . . . . . 1 0.911 . . 209.0 . . . . . . . . . . 0.8887 0.850 0.889 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.817 . . exonic exonic exonic . . 0.840 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.935 0.407 . . 37 . 0.930 . . 0.941 . . . 0.917 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.932 . . 0 0 0 0 0 0 . 0.577 . . 0.736 . . . . . . 0 0.518 . . . . . 0.953 . 0.996 . HET 0 . . . . . . . . . . . . . 19.5469 . . V.57 V.57 . 0.000000 . . . . . . 0.600 . . V.57 . . . . . . . . . . . . . . . . . . . 0.854 . 2.619 2.619000 . . 0.000000 . . 1.0E-170 1.000 0.715 . 0.888 1.000 . 0.814 . 0.173 2.619 0.871 . . . . . 1 1538 10 1/0 0,210,255 +rs76390727 10 126686574 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686574 126686574 Chr10(GRCh37):g.126686574G>A 2144 2144 NM_022802.2:c.2144C>T p.Ala715Val p.Ala715Val 4 602619 -42 5' 76.5756 8.10875 0.970055 XI.81 76.5756 8.10875 0.970055 XI.85 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs76390727 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000102 0.000116 0.000000 0.000009 0.000000 0.000000 0.000116 4 0 0 1 2 0 1 0 0 244290 15132 33540 9818 17190 30762 110452 21952 5444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 1 2 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes transition C T C>T 0.992 5.371 A Ala GCG 0.107 V Val GTG 0.468 715 13 10 Zebrafish 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 199.60 30.40 Deleterious 0.03 III.35 good 6.476E-2 0.003796 137 PASS . . . . . . . . . . . . . . . . 0.11188811 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.817 . @ . . . . . 1 0.869 . . 143.0 . . . . . . . . . . 0.3695 0.444 0.370 c . . . . . 1.580e-05 . . . . . . . . . . . 0 1.932e-05 0 0.0001 0 1.87e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.802 . . exonic exonic exonic . . 0.593 @ . . . 0.38 0.38 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.856 0.181 . . 37 . 0.758 . . 0.831 . . . 0.050 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.650 . . 0 0 0 0 0 0 . 0.715 . . 0.599 . . . . . . 0 0.349 . . . . . 0.893 . 0.821 . LowAF 0.06 rs76390727 . . . . . . . . . . . . 18.0719 . . IV.73 IV.73 . 0.010000 . . . . . . 0.639 . . IV.73 0 1.637e-05 0 0.0001 0.0001 0 9.054e-06 0 0 . . . . . . . . . . 0.997 . 2.329 2.329000 . . 0.010000 . . 1.0E-137 1.000 0.715 . 0.262 0.960 . 0.973 . 0.551 2.329 0.917 . . . rs76390727 rs76390727 1 1538 10 1/0 0,214,255 +. 10 126686659 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686659 126686659 Chr10(GRCh37):g.126686659G>A 2059 2059 NM_022802.2:c.2059C>T p.Arg687Trp p.Arg687Trp 4 602619 81 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.0968 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs945665113 no no 0 G 0.000000 0 COSM5620595|COSM5620595 Large intestine|Haematopoietic and lymphoid tissue 0.000418|0.000278 2395|3598 transition C T C>T 1.000 3.595 R Arg CGG 0.207 W Trp TGG 1.000 687 13 13 Baker's yeast -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C65 0.00 101.29 Deleterious 0 III.35 bad 7.18E-5 6.652E-5 196 PASS . . . . . . . . . . . . . . . . 0.14778325 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.957 . @ . . . . . 1 0.988 . . 203.0 . . . . . . . . . . 0.7630 0.669 0.763 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.862 . . exonic exonic exonic . . 0.593 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.920 0.341 . . 37 . 0.947 . . 0.961 . . . 0.954 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.955 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.599 . . . . . 0.893 . 0.997 . LowAF 0 . . . . . . . . . . . . . 18.0719 . . IV.73 IV.73 . 0.000000 . . . . . . 0.421 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 2.329 2.329000 . . 0.000000 . . 1.0E-196 1.000 0.715 . 0.587 1.000 . 0.481 . 0.169 2.329 0.917 . . . . . 1 1538 10 1/0 0,200,255 +rs77909283 10 126686665 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686665 126686665 Chr10(GRCh37):g.126686665G>T 2053 2053 NM_022802.2:c.2053C>A p.Leu685Met p.Leu685Met 4 602619 75 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.0895 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs77909283 no no 0 G 0.000000 0 transversion C A C>A 1.000 3.676 L Leu CTG 0.404 M Met ATG 1.000 685 13 13 Baker's yeast 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 0.00 14.30 Deleterious 0 III.35 bad 4.641E-3 5.033E-5 196 PASS . . . . . . . . . . . . . . . . 0.14925373 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.644 . @ . . . . . 1 0.681 . . 201.0 . . . . . . . . . . 0.6876 0.647 0.688 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.828 . . exonic exonic exonic . . 0.593 @ . . . 0.27 0.33 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.753 0.089 . . 37 . 0.893 . . 0.897 . . . 0.333 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.414 . . 0 0 0 0 0 0 . 0.764 . . 0.774 . . . . . . 0 0.430 . . . . . 0.893 . 0.860 . LowAF 0.03 rs77909283 . . . . . . . . . . . . 18.0719 . . IV.73 IV.73 . 0.080000 . . . . . . 0.507 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 2.329 2.329000 . . 0.080000 . . 1.0E-196 1.000 0.715 . 0.587 0.997 . 0.717 . 0.551 2.329 0.917 . . . rs77909283 rs77909283 1 1538 10 1/0 0,201,255 +. 10 126686666 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686666 126686666 Chr10(GRCh37):g.126686666G>A 2052 2052 NM_022802.2:c.2052C>T p.Asn684= p.Asn684Asn 4 602619 74 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.0352 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs904214855 no no 0 A 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 242660 14966 33354 9736 17088 30422 109932 21758 5404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes COSM5763751 Large intestine 0.000418 2395 transition C T C>T 1.000 0.609 N Asn AAC 0.536 N Asn AAT 0.464 684 196 PASS . . . . . . . . . . . . . . . . 0.14903846 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 208.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.242e-06 0 0 0 0 1.819e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,199,255 +rs76229685 10 126686672 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686672 126686672 Chr10(GRCh37):g.126686672G>A 2046 2046 NM_022802.2:c.2046C>T p.Ile682= p.Ile682Ile 4 602619 68 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 XII.44 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs76229685 yes no Frequency 1 G 0.000000 0 0.000017 0.000000 0.000000 0.000000 0.000059 0.000000 0.000027 0.000000 0.000000 0.000059 4 0 0 0 1 0 3 0 0 242062 14902 33280 9710 17068 30330 109694 21688 5390 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition C T C>T 0.992 0.286 I Ile ATC 0.481 I Ile ATT 0.356 682 209 PASS . . . . . . . . . . . . . . . . 0.18137255 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . . . . . . . . . . . . . . . . . . 2.370e-05 . . . 0 1.326e-05 0 0.0002 0 0 0 0 0 3.371e-05 0 0.0002 0 4.24e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.28 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76229685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.652e-05 0 0 5.859e-05 0 2.735e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs76229685 rs76229685 1 1538 10 1/0 0,203,255 +rs796159102 10 126686680 A C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686680 126686680 Chr10(GRCh37):g.126686680A>C 2038 2038 NM_022802.2:c.2038T>G p.Cys680Gly p.Cys680Gly 4 602619 60 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.2115 0 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs796159102 no no 0 A 0.000000 0 COSM5763753 Large intestine 0.000835 2395 transversion T G T>G 1.000 4.402 C Cys TGC 0.552 G Gly GGC 0.342 680 13 11 Fruitfly -3 -3 -6 II.75 0.74 5.V 9 55 3 159 C0 159.42 0.00 Tolerated 0.34 III.35 good 2.484E-2 0.001371 205 PASS . . . . . . . . . . . . . . . . 0.17204301 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.364 . @ . . . . . 1 0.340 . . 186.0 . . . . . . . . . . -0.0332 0.178 -0.033 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.781 . . exonic exonic exonic . . 0.593 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.799 0.118 . . 37 . 0.550 . . 0.746 . . . 0.014 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.991 . . 0 0 0 0 0 0 . 0.427 . . 0.539 . . . . . . 0 0.282 . . . . . 0.673 . 0.925 . HET 0.14 . . . . . . . . . . . . . 14.522 . . IV.73 IV.73 . 0.140000 . . . . . . 0.589 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 1.888 1.888000 . . 0.140000 . . 1.0E-205 1.000 0.715 . 0.416 0.970 . 0.924 . 0.866 1.888 1.062 . . . . . 1 1538 10 1/0 0,206,255 +rs796931776 10 126686687 A G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686687 126686687 Chr10(GRCh37):g.126686687A>G 2031 2031 NM_022802.2:c.2031T>C p.Ser677= p.Ser677Ser 4 602619 53 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.3844 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs796931776 no no 0 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 241586 14848 33232 9692 17014 30296 109482 21662 5360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 55 Exomes COSM5763851 Large intestine 0.000418 2395 transition T C T>C 0.992 -0.037 S Ser TCT 0.185 S Ser TCC 0.220 677 255 PASS . . . . . . . . . . . . . . . . 0.34408602 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.139e-06 0 0 0 0 0 0 3.301e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs772014667 10 126686690 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686690 126686690 Chr10(GRCh37):g.126686690G>A 2028 2028 NM_022802.2:c.2028C>T p.Asp676= p.Asp676Asp 4 602619 50 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 XII.23 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs772014667 yes no Frequency 1 G 0.000000 0 transition C T C>T 1.000 0.528 D Asp GAC 0.539 D Asp GAT 0.461 676 202 PASS . . . . . . . . . . . . . . . . 0.1641791 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 201.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +rs796720401 10 126686692 C T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686692 126686692 Chr10(GRCh37):g.126686692C>T 2026 2026 NM_022802.2:c.2026G>A p.Asp676Asn p.Asp676Asn 4 602619 48 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.2307 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs796720401 no no 0 C 0.000000 0 transition G A G>A 1.000 5.371 D Asp GAC 0.539 N Asn AAC 0.536 676 13 12 C. elegans 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 44.60 XI.33 Deleterious 0.01 III.35 bad 1.055E-3 9.06E-5 199 PASS . . . . . . . . . . . . . . . . 0.15609756 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.865 . @ . . . . . 1 0.943 . . 205.0 . . . . . . . . . . 0.4709 0.425 0.471 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.860 . . exonic exonic exonic . . 0.593 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.912 0.310 . . 37 . 0.927 . . 0.943 . . . 0.755 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.808 . . 0 0 0 0 0 0 . 0.629 . . 0.627 . . . . . . 0 0.512 . . . . . 0.893 . 0.452 . HET 0 . . . . . . . . . . . . . 18.0719 . . IV.73 IV.73 . 0.000000 . . . . . . 0.524 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 2.329 2.329000 . . 0.000000 . . 1.0E-199 1.000 0.715 . 0.111 0.942 . 0.812 . 0.362 2.329 0.871 . . . . . 1 1538 10 1/0 0,200,255 +rs113916026 10 126686693 C G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686693 126686693 Chr10(GRCh37):g.126686693C>G 2025 2025 NM_022802.2:c.2025G>C p.Ala675= p.Ala675Ala 4 602619 47 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.2412 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs113916026 yes no Frequency 1 C 0.000000 0 COSM5763830|COSM5763830 Lung|Large intestine 0.000419|0.000835 2388|2395 transversion G C G>C 0.063 -1.893 A Ala GCG 0.107 A Ala GCC 0.403 675 255 PASS . . . . . . . . . . . . . . . . 0.3219512 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 205.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.28 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113916026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113916026 rs113916026 1 1538 10 1/0 0,217,255 +rs79189060 10 126686714 A G - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686714 126686714 Chr10(GRCh37):g.126686714A>G 2004 2004 NM_022802.2:c.2004T>C p.Ser668= p.Ser668Ser 4 602619 26 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.975613 13.298 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs79189060 yes no Frequency 1 A 0.000000 0 0.000013 0.000000 0.000000 0.000000 0.000180 0.000000 0.000000 0.000000 0.000000 0.000180 3 0 0 0 3 0 0 0 0 236684 14406 32500 9544 16682 29598 107412 21242 5300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 54 Exomes COSM5763755 Large intestine 0.000835 2395 transition T C T>C 0.000 -3.749 S Ser TCT 0.185 S Ser TCC 0.220 668 243 PASS . . . . . . . . . . . . . . . . 0.28108108 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 185.0 . . . . . . . . . . . . . . . . . . . 2.370e-05 . . . 0 4.609e-05 0 0.0006 0 0 0 0 0 3.928e-05 0 0.0005 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.28 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79189060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.268e-05 0 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs79189060 rs79189060 1 1538 10 1/0 0,218,255 +rs75044667 10 126686724 T C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126686724 126686724 Chr10(GRCh37):g.126686724T>C 1994 1994 NM_022802.2:c.1994A>G p.Asn665Ser p.Asn665Ser 4 602619 16 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.972926 13.1281 -0.000918055 New Acceptor Site 126686723 3.08602 0.008379 75.7074 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs75044667 no no 0 T 0.000000 0 transition A G A>G 1.000 4.402 N Asn AAC 0.536 S Ser AGC 0.243 665 13 12 Baker's yeast 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 68.35 31.73 Deleterious 0.03 III.35 good 3.092E-2 0.001651 179 PASS . . . . . . . . . . . . . . . . 0.111801244 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.559 . @ . . . . . 1 0.729 . . 161.0 . . . . . . . . . . 0.3923 0.368 0.392 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.871 . . exonic exonic exonic . . 0.593 @ . . . 0.28 0.33 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.872 0.209 . . 37 . 0.917 . . 0.932 . . . 0.409 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.800 . . 0 0 0 0 0 0 . 0.470 . . 0.522 . . . . . . 0 0.574 . . . . . 0.673 . 0.535 . LowAF 0 rs75044667 . . . . . . . . . . . . 14.522 . . IV.73 IV.73 . 0.010000 . . . . . . 0.513 . . IV.73 . . . . . . . . . . . . . . . . . . . 0.522 . 1.888 1.888000 . . 0.010000 . . 1.0E-179 1.000 0.715 . 0.562 1.000 . 0.828 . 0.580 1.888 0.991 . . . rs75044667 rs75044667 1 1538 10 1/0 0,207,255 +rs796847592 10 126686726 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution stop gain exon GRCh37 126686726 126686726 Chr10(GRCh37):g.126686726G>T 1992 1992 NM_022802.2:c.1992C>A p.Cys664* p.Cys664* 4 602619 14 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.97918 13.3294 0.00121872 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs796847592 no no 0 G 0.000000 0 transversion C A C>A 1.000 1.416 C Cys TGC 0.552 * * TGA 0.489 664 177 PASS . . . . . . . . . . . . . . . . 0.10714286 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.982 . @ . . . . . 0 0.666 . . 168.0 . . . . . . . . . . 0.6333 0.447 0.633 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.429 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.358 . . . LowAF 0 . . . . . . . . . . . . . 9.1239 . . IV.73 III.81 . 1.000000 . . . . . . 0.408 . . III.81 . . . . . . . . . . . . . . . . . . . 0.522 . 2.329 2.329000 . . 1.000000 . . 1.0E-177 1.000 0.715 . 0.587 0.998 . 0.498 . 0.551 2.329 0.917 . . . . . 1 1538 10 1/0 0,205,255 +rs764494778 10 126686732 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126686732 126686732 Chr10(GRCh37):g.126686732G>A 1986 1986 NM_022802.2:c.1986C>T p.Ala662= p.Ala662Ala 4 602619 8 3' 88.9681 10.885 0.975613 13.0968 88.9681 10.885 0.97052 XII.59 -0.0017401 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs764494778 yes no Frequency 1 A 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000035 0.000010 0.000000 0.000000 0.000035 2 0 0 0 0 1 1 0 0 226374 13596 31006 9326 16004 28482 102566 20308 5086 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 54 Exomes transition C T C>T 0.732 -0.682 A Ala GCC 0.403 A Ala GCT 0.263 662 217 PASS . . . . . . . . . . . . . . . . 0.20382166 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 157.0 . . . . . . . . . . . . . . . . . . . 7.907e-06 . . . 0 0 0 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs764494778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.835e-06 0 0 0 0 9.75e-06 0 3.511e-05 . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs3198936 10 126691631 T A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126691631 126691631 Chr10(GRCh37):g.126691631T>A 1876 1876 NM_022802.2:c.1876A>T p.Thr626Ser p.Thr626Ser 3 602619 43 3' 86.0965 X.37 0.851523 14.2378 86.0965 X.37 0.851523 14.095 0 Cryptic Acceptor Strongly Activated 126691620 4.71765 0.621306 78.6814 8.20854 0.862671 85.0681 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs3198936 no no 0 T 0.000000 0 COSM4144453|COSM4144453 Thyroid|Liver 0.001339|0.000844 747|2371 transversion A T A>T 1.000 2.223 T Thr ACC 0.361 S Ser TCC 0.220 626 13 10 Zebrafish 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 127.27 56.93 Tolerated 0.18 III.35 good 8.834E-1 0.4403 255 PASS . . . . . . . . . . . . . . . . 0.52071005 . . @ 88 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.220 . . 169.0 . . . . . . . . . . -0.3275 -0.175 -0.327 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.426 @ . . . 0.36 0.32 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.634 0.048 . . 37 . 0.787 . . 0.741 . . . 0.271 0.471 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.652 . . 0 0 0 0 0 0 . 0.200 . . 0.263 . . . . . . 0 0.416 . . . . . 0.479 . 0.642 . HET 0.03 rs3198936 . . . . . . . . . . . . XI.63 . . IV.94 III.79 . 0.020000 . . . . . . 0.480 . . III.79 . . . . . . . . . . . . . . . . . . . 0.854 . 0.824 0.824000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.634 . 0.567 0.824 0.991 . rs3198936 rs3198936 rs3198936 rs3198936 1 1538 10 1/0 0,238,252 +rs75794788 10 126691634 T A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126691634 126691634 Chr10(GRCh37):g.126691634T>A 1873 1873 NM_022802.2:c.1873A>T p.Ile625Phe p.Ile625Phe 3 602619 40 3' 86.0965 X.37 0.851523 14.2378 86.0965 X.37 0.851523 13.7524 0 Cryptic Acceptor Strongly Activated 126691620 4.71765 0.621306 78.6814 VI.75 0.803968 84.0819 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs75794788 no no 0 T 0.000000 0 COSM4144455 Thyroid 0.001339 747 transversion A T A>T 1.000 3.192 I Ile ATC 0.481 F Phe TTC 0.546 625 13 12 C. elegans 0 0 -1 0 0 5.II 5.II 111 132 21 C0 89.28 21.28 Deleterious 0.01 III.35 bad 4.649E-3 0.0001946 255 PASS . . . . . . . . . . . . . . . . 0.5329341 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.815 . @ . . . . . 1 0.443 . . 167.0 . . . . . . . . . . 0.3183 0.307 0.318 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.537 . . exonic exonic exonic . . 0.426 @ . . . 0.37 0.32 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.710 0.070 . . 37 . 0.616 . . 0.627 . . . 0.257 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.724 . . 0 0 0 0 0 0 . 0.554 . . 0.666 . . . . . . 0 0.654 . . . . . 0.479 . 0.849 . HET 0.01 rs75794788 . . . . . . . . . . . . XI.63 . . IV.94 III.79 . 0.000000 . . . . . . 0.630 . . III.79 . . . . . . . . . . . . . . . . . . . 0.854 . 0.824 0.824000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.874 . 0.567 0.824 0.991 . . . rs75794788 rs75794788 1 1538 10 1/0 0,240,253 +rs3198935 10 126691660 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126691660 126691660 Chr10(GRCh37):g.126691660G>A 1847 1847 NM_022802.2:c.1847C>T p.Ala616Val p.Ala616Val 3 602619 14 3' 86.0965 X.37 0.851523 14.2378 86.0965 X.37 0.874888 14.2659 0.00914636 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs3198935 no no 0 G 0.000000 0 transition C T C>T 1.000 5.694 A Ala GCC 0.403 V Val GTC 0.240 616 13 12 C. elegans 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 65.28 0.00 Tolerated 0.18 III.35 bad 4.661E-6 1.216E-5 255 PASS . . . . . . . . . . . . . . . . 0.489011 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.748 . @ . . . . . 1 0.958 . . 182.0 . . . . . . . . . . 0.4575 0.368 0.457 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.529 . . exonic exonic exonic . . 0.582 @ . . . 0.42 0.26 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.591 0.040 . . 37 . 0.601 . . 0.588 . . . 0.419 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.723 . . 0 0 0 0 0 0 . 0.689 . . 0.668 . . . . . . 0 0.654 . . . . . 0.889 . 0.923 . HET 0.01 rs3198935 . . . . . . . . . . . . 17.9557 . . IV.68 IV.68 . 0.180000 . . . . . . 0.862 . . IV.68 . . . . . . . . . . . . . . . . . . . 0.442 . 2.317 2.317000 . . 0.180000 . . 1.0E-255 1.000 0.715 . 0.220 0.639 . 0.997 . 0.536 2.317 0.917 . . . rs3198935 rs3198935 1 1538 10 1/0 0,234,255 +rs202167377 10 126691994 G C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126691994 126691994 Chr10(GRCh37):g.126691994G>C 1746 1746 NM_022802.2:c.1746C>G p.Arg582= p.Arg582Arg 2 602619 68 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.2908 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs202167377 yes no Frequency 1 G 0.000000 0 COSM5763527 Large intestine 0.000418 2395 transversion C G C>G 0.976 -0.117 R Arg CGC 0.190 R Arg CGG 0.207 582 208 PASS . . . . . . . . . . . . . . . . 0.2905983 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.25 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs797005903 10 126691997 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126691997 126691997 Chr10(GRCh37):g.126691997G>T 1743 1743 NM_022802.2:c.1743C>A p.Gly581= p.Gly581Gly 2 602619 65 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 17.0037 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs797005903 no no 0 G 0.000000 0 COSM5763496 Large intestine 0.000418 2395 transversion C A C>A 0.976 0.125 G Gly GGC 0.342 G Gly GGA 0.246 581 249 PASS . . . . . . . . . . . . . . . . 0.30357143 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 112.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs3198923 10 126692000 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126692000 126692000 Chr10(GRCh37):g.126692000G>A 1740 1740 NM_022802.2:c.1740C>T p.Asp580= p.Asp580Asp 2 602619 62 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.7021 0 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain rs3198923 yes no Frequency 1 G 0.000000 0 0.000045 0.000000 0.000040 0.000000 0.000119 0.000113 0.000035 0.000040 0.000000 0.000119 11 0 1 0 2 3 4 1 0 245706 22592 25206 8304 16764 26550 115706 24944 5640 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 2 3 4 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5763644 Large intestine 0.000418 2395 transition C T C>T 0.976 -0.198 D Asp GAC 0.539 D Asp GAT 0.461 580 247 PASS . . . . . . . . . . . . . . . . 0.29565218 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . . . . . . . . . . . . . . . . 5.564e-05 . . . 0 4.747e-05 0 0.0002 0 2.647e-05 0 0.0001 0 5.886e-05 0 0 0 7.695e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.25 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3198923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.655e-05 0 0 0.0001 4.661e-05 3.971e-05 0 0.0001 0 3.236e-05 0.0012 0 0 0 0 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs3198923 rs3198923 1 1538 10 1/0 0,239,255 +rs201964242 10 126692009 C A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution synonymous exon GRCh37 126692009 126692009 Chr10(GRCh37):g.126692009C>A 1731 1731 NM_022802.2:c.1731G>T p.Ala577= p.Ala577Ala 2 602619 53 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.2367 0 rs201964242 yes no Frequency/1000G 2 C 0.000000 0 COSM5763529 Large intestine 0.000418 2395 transversion G T G>T 0.898 -0.440 A Ala GCG 0.107 A Ala GCT 0.263 577 235 PASS . . . . . . . . . . . . . . . . 0.2578125 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.36 0.29 182 ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +rs3198920 10 126692017 G C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692017 126692017 Chr10(GRCh37):g.126692017G>C 1723 1723 NM_022802.2:c.1723C>G p.Leu575Val p.Leu575Val 2 602619 45 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 17.2105 0 rs3198920 no no 0 G 0.000000 0 transversion C G C>G 1.000 1.739 L Leu CTG 0.404 V Val GTG 0.468 575 13 11 C. elegans 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 245.67 XI.33 Deleterious 0.02 III.35 bad 3.067E-5 5.033E-5 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.514 . @ . . . . . 1 0.278 . . 102.0 . . . . . . . . . . 0.1972 0.091 0.197 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.546 . . exonic exonic exonic . . 0.242 @ . . . 0.33 0.29 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.477 . . . . D 0.634 0.048 . . 37 . 0.627 . . 0.599 . . . 0.311 0.537 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.595 . . 0 0 0 0 0 0 . 0.689 . . 0.708 . . . . . . 0 0.461 . . . . . 0.355 . 0.764 . LowAF 0.03 rs3198920 . . . . . . . . . . . . 9.074 . . IV.72 I.83 . 0.060000 . . . . . . 0.577 . . . . . . . . . . . . . . . . . . . . . . 0.817 . 0.176 0.176000 . . 0.060000 . . 1.0E-182 1.000 0.715 . 0.697 1.000 . 0.569 . 0.158 0.176 0.917 . . . rs3198920 rs3198920 1 1538 10 1/0 0,227,255 +rs796256730 10 126692019 G A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692019 126692019 Chr10(GRCh37):g.126692019G>A 1721 1721 NM_022802.2:c.1721C>T p.Pro574Leu p.Pro574Leu 2 602619 43 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 17.0048 0 rs796256730 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 216160 13750 25186 8092 15274 27458 100304 21444 4652 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Exomes COSM5620577 Haematopoietic and lymphoid tissue 0.000556 3598 transition C T C>T 1.000 4.160 P Pro CCC 0.328 L Leu CTC 0.197 574 13 12 Baker's yeast -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 208.63 94.04 Deleterious 0 III.35 bad 2.391E-5 0.0001268 181 PASS . . . . . . . . . . . . . . . . 0.115384616 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.630 . @ . . . . . 1 0.700 . . 104.0 . . . . . . . . . . 0.3966 0.311 0.397 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.573 . . exonic exonic exonic . . 0.429 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.858 0.185 . . 37 . 0.680 . . 0.722 . . . 0.627 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.984 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.682 . . . . . 0.721 . 0.832 . LowAF 0 . . . . . . . . . . . . . 15.1285 . . IV.72 III.81 . 0.000000 . . . . . . 0.782 . . III.81 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.817 . 1.107 1.107000 . . 0.000000 . . 1.0E-181 1.000 0.715 . 0.888 1.000 . 0.997 . 0.551 1.107 0.917 . . . . . 1 1538 10 1/0 0,226,255 +. 10 126692022 CG C - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 deletion frameshift exon GRCh37 126692023 126692023 Chr10(GRCh37):g.126692023del 1717 1717 NM_022802.2:c.1717del p.Arg573Alafs*19 p.Arg573Alafs*19 2 602619 39 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 15.2842 0 C 255 Pass . . . . . . . . . . . . . . . . 0.10185185 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,99 +rs796388243 10 126692029 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692029 126692029 Chr10(GRCh37):g.126692029G>T 1711 1711 NM_022802.2:c.1711C>A p.His571Asn p.His571Asn 2 602619 33 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.9136 0 rs796388243 no no 0 G 0.000000 0 transversion C A C>A 1.000 5.694 H His CAC 0.587 N Asn AAC 0.536 571 13 9 Zebrafish 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 231.11 17.80 Tolerated 0.16 III.35 good 9.082E-2 0.04342 175 PASS . . . . . . . . . . . . . . . . 0.10377359 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.680 . @ . . . . . 1 0.351 . . 106.0 . . . . . . . . . . 0.3163 0.376 0.316 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.837 . . exonic exonic exonic . . 0.591 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.481 . . . . D 0.701 0.067 . . 37 . 0.834 . . 0.854 . . . 0.597 0.548 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.783 . . 0 0 0 0 0 0 . 0.495 . . 0.527 . . . . . . 0 0.564 . . . . . 0.892 . 0.574 . LowAF 0 . . . . . . . . . . . . . 18.0503 . . IV.72 IV.72 . 0.030000 . . . . . . 0.821 . . IV.72 . . . . . . . . . . . . . . . . . . . 0.817 . 2.350 2.350000 . . 0.030000 . . 1.0E-175 1.000 0.715 . 0.888 1.000 . 0.838 . 0.551 2.350 0.917 . . . . . 1 1538 10 1/0 0,224,255 +. 10 126692035 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692035 126692035 Chr10(GRCh37):g.126692035G>T 1705 1705 NM_022802.2:c.1705C>A p.Pro569Thr p.Pro569Thr 2 602619 27 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 17.093 0 transversion C A C>A 1.000 3.757 P Pro CCC 0.328 T Thr ACC 0.361 569 13 12 Baker's yeast -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 208.63 30.46 Deleterious 0 III.35 bad 2.687E-4 0.0001268 177 PASS . . . . . . . . . . . . . . . . 0.106796116 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.713 . @ . . . . . 1 0.858 . . 103.0 . . . . . . . . . . 0.6278 0.644 0.628 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.864 . . exonic exonic exonic . . 0.591 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.504 . . . . D 0.853 0.176 . . 37 . 0.892 . . 0.908 . . . 0.627 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.898 . . 0 0 0 0 0 0 . 0.600 . . 0.548 . . . . . . 0 0.784 . . . . . 0.892 . 0.817 . LowAF 0 . . . . . . . . . . . . . 18.0503 . . IV.72 IV.72 . 0.000000 . . . . . . 0.780 . . IV.72 . . . . . . . . . . . . . . . . . . . 0.817 . 2.350 2.350000 . . 0.000000 . . 1.0E-177 1.000 0.715 . 0.888 1.000 . 0.985 . 0.551 2.350 0.917 . . . . . 1 1538 10 1/0 0,226,255 +rs368195398 10 126692037 C A - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692037 126692037 Chr10(GRCh37):g.126692037C>A 1703 1703 NM_022802.2:c.1703G>T p.Gly568Val p.Gly568Val 2 602619 25 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.8808 0 rs368195398 yes no Frequency 1 C 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 207400 13504 23316 7584 14718 25942 96738 21150 4448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 46 Exomes 8340 4293 12633 0 1 1 0 0.000232883 7.91515e-05 0 0.000232883 7.91515e-05 17 transversion G T G>T 1.000 3.757 G Gly GGC 0.342 V Val GTC 0.240 568 13 10 C. elegans -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 224.61 50.17 Deleterious 0.02 III.35 bad 1.431E-5 7.356E-5 176 PASS . . . . . . . . . . . . . . . . 0.10576923 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.871 . @ . . . . . 1 0.722 . . 104.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . 0.5024 0.519 0.502 c . . . . . 7.973e-06 . . . 0 1.259e-05 0 0 0 2.779e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.871 . . exonic exonic exonic . . 0.591 @ . . . 0.32 0.31 182 ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.871 0.206 . . 37 . 0.884 . . 0.892 . . . 0.627 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.938 . . 0 0 0 0 0 0 . 0.596 . . 0.514 . . . . . . 0 0.912 . . . . . 0.892 . 0.918 . LowAF 0 rs368195398 . . . . . . . . . . . . 18.0503 . . IV.72 IV.72 . 0.080000 . . . . 0.000079 . 0.623 . . IV.72 0 4.822e-06 0 0 0 0 1.034e-05 0 0 . . . . . . . . . . 0.817 . 2.350 2.350000 . . 0.080000 . . 1.0E-176 1.000 0.715 . 0.888 1.000 . 0.625 . 0.362 2.350 0.871 0.0002 . . rs368195398 . 1 1538 10 1/0 0,225,255 +rs797010536 10 126692039 G T - CTBP2 2495 C-terminal binding protein 2 NM_022802.2 -1 4752 2958 NP_073713.2 substitution missense exon GRCh37 126692039 126692039 Chr10(GRCh37):g.126692039G>T 1701 1701 NM_022802.2:c.1701C>A p.Asn567Lys p.Asn567Lys 2 602619 23 3' 87.3863 XI.82 0.979095 16.9375 87.3863 XI.82 0.979095 16.5902 0 rs797010536 no no 0 G 0.000000 0 transversion C A C>A 1.000 1.013 N Asn AAC 0.536 K Lys AAA 0.425 567 13 10 C. elegans 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C0 241.96 0.00 Tolerated 0.45 III.35 bad 3.433E-5 7.368E-5 178 PASS . . . . . . . . . . . . . . . . 0.10891089 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.653 . @ . . . . . 1 0.451 . . 101.0 . . . . . . . . . . -0.0464 0.008 -0.046 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.852 . . exonic exonic exonic . . 0.320 @ . . . . . . ENSG00000175029 CTBP2 CTBP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.504 . . . . D 0.866 0.197 . . 37 . 0.815 . . 0.791 . . . 0.212 0.508 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.777 . . 0 0 0 0 0 0 . 0.504 . . 0.473 . . . . . . 0 0.531 . . . . . 0.173 . 0.574 . LowAF 0 . . . . . . . . . . . . . 5.756 . . IV.72 II.83 . 0.000000 . . . . . . 0.476 . . II.83 . . . . . . . . . . . . . . . . . . . 0.817 . 0.513 0.513000 . . 0.000000 . . 1.0E-178 1.000 0.715 . 0.888 1.000 . 0.363 . 0.551 0.513 0.917 . . . . . 1 1538 10 1/0 0,227,255 +rs149203505 10 127585074 G A - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution upstream GRCh37 127585074 127585074 Chr10(GRCh37):g.127585074G>A -138 -138 NM_001350939.1:c.-138G>A p.? p.? 1 611640 -151 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 New Acceptor Site 127585076 6.28948 0.5597 70.0602 rs149203505 no no 0 0.000000 0 transition G A G>A 0.882 1.577 174 PASS . . . . . . . . . . . . . . . . 0.10080645 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 496.0 . . UPSTREAM(MODIFIER||||FANK1|mRNA|CODING|NM_145235|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.57 0.53 182 . . FANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs149203505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs34407292 rs34407292 rs149203505 rs149203505 1 1538 10 1/0 0,157,255 +rs75232355 10 127585091 G A - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution upstream GRCh37 127585091 127585091 Chr10(GRCh37):g.127585091G>A -121 -121 NM_001350939.1:c.-121G>A p.? p.? 1 611640 -134 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 rs75232355 no no 0 0.000000 0 transition G A G>A 0.992 1.577 255 PASS . . . . . . . . . . . . . . . . 0.42028984 . . @ 203 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 483.0 . . UPSTREAM(MODIFIER||||FANK1|mRNA|CODING|NM_145235|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.58 0.54 182 . . FANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75232355 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . II.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 . . rs75232355 rs75232355 1 1538 10 1/0 0,187,218 +rs79612842 10 127585113 C T - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585113 127585113 Chr10(GRCh37):g.127585113C>T -99 -99 NM_001350939.1:c.-99C>T p.? p.? 1 611640 -112 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 rs79612842 no no 0 0.000000 0 transition C T C>T 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.385567 . . @ 187 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 485.0 . . START_GAINED(LOW||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.56 0.43 182 ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-99C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79612842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79612842 rs79612842 1 1538 10 1/0 0,183,217 +rs145676025 10 127585141 C G - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585141 127585141 Chr10(GRCh37):g.127585141C>G -71 -71 NM_001350939.1:c.-71C>G p.? p.? 1 611640 -84 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 Cryptic Donor Strongly Activated 127585136 0.001897 49.6727 0.6632 0.022883 62.3686 rs145676025 yes no Frequency 1 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30978 8730 838 302 1622 0 15016 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 131 Genomes transversion C G C>G 0.016 -1.812 174 PASS . . . . . . . . . . . . . . . . 0.100790516 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 506.0 . . UTR_5_PRIME(MODIFIER||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.55 0.5 182 ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-71C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs145676025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.228e-05 0 0 0 0 6.66e-05 0 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs34712261 rs34712261 rs145676025 rs145676025 1 1538 10 1/0 0,156,255 +rs796226578 10 127585142 G C - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585142 127585142 Chr10(GRCh37):g.127585142G>C -70 -70 NM_001350939.1:c.-70G>C p.? p.? 1 611640 -83 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.63989 0 rs796226578 no no 0 0.000000 0 transversion G C G>C 0.646 1.739 187 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 504.0 . . UTR_5_PRIME(MODIFIER||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-70G>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,159,255 +rs142833172 10 127585195 C G - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585195 127585195 Chr10(GRCh37):g.127585195C>G -17 -17 NM_001350939.1:c.-17C>G p.? p.? 1 611640 -30 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.59817 0 rs142833172 no no 0 0.000000 0 transversion C G C>G 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.38658148 . . @ 121 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 313.0 . . UTR_5_PRIME(MODIFIER||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.59 0.6 182 ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-17C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142833172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs142833172 rs142833172 1 1538 10 1/0 0,204,249 +rs139618022 10 127585210 C T - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution 5'UTR GRCh37 127585210 127585210 Chr10(GRCh37):g.127585210C>T -2 -2 NM_001350939.1:c.-2C>T p.? p.? 1 611640 -15 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.48614 0 rs139618022 yes no Frequency 1 0.000000 0 transition C T C>T 0.732 -0.117 202 PASS . . . . . . . . . . . . . . . . 0.16356878 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 269.0 . . UTR_5_PRIME(MODIFIER||||FANK1|mRNA|CODING|NM_145235|NM_145235.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.57 0.55 182 ENSG00000203780 FANK1 FANK1 . . NM_145235:c.-2C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139618022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs139618022 rs139618022 1 1538 10 1/0 0,189,255 +rs5013589 10 127585237 C G - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution intron GRCh37 127585237 127585237 Chr10(GRCh37):g.127585237C>G 13+13 13+13 NM_001350939.1:c.13+13C>G p.? p.? 1 1 611640 13 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.91495 0 rs5013589 yes no Frequency 1 0.000000 0 transversion C G C>G 0.063 -0.037 218 PASS . . . . . . . . . . . . . . . . 0.43404254 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 235.0 . . INTRON(MODIFIER||||FANK1|mRNA|CODING|NM_145235|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.27 182 ENSG00000203780 FANK1 FANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs5013589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs5013589 rs5013589 1 1538 10 1/0 0,229,255 +rs78002531 10 127585268 G A - FANK1 23527 Fibronectin type III and ankyrin repeat domains 1 NM_001350939.1 1 1378 1116 NP_001337868.1 substitution intron GRCh37 127585268 127585268 Chr10(GRCh37):g.127585268G>A 13+44 13+44 NM_001350939.1:c.13+44G>A p.? p.? 1 1 611640 44 5' 73.5778 5.42329 0.778045 7.63989 73.5778 5.42329 0.778045 7.58944 0 rs78002531 yes no Frequency 1 0.000000 0 0.000065 0.000094 0.000000 0.000000 0.000000 0.000868 0.000032 0.000000 0.000643 0.000868 4 1 0 0 0 1 1 0 1 61754 10602 1922 726 2704 1152 31740 11352 1556 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.602 184 PASS . . . . . . . . . . . . . . . . 0.12182741 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . INTRON(MODIFIER||||FANK1|mRNA|CODING|NM_145235|) . . . . . . . . . . . . . . . . 1.062e-04 . . . 0.0016 0.0003 0 0 0 0 0 0.0009 0.0015 0.0003 0 0 0 0 0 0.0009 . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.31 182 ENSG00000203780 FANK1 FANK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs78002531 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0 0 0 0 5.979e-05 0.0017 0.0009 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . rs35668814 rs35668814 rs78002531 rs78002531 1 1538 10 1/0 0,199,255 +. 10 127705925 G GA - ADAM12 190 ADAM metallopeptidase domain 12 NM_003474.5 -1 8037 2730 NP_003465.3 O43184 duplication intron GRCh37 127705925 127705926 Chr10(GRCh37):g.127705926dup 2670-18 2670-18 NM_003474.5:c.2670-18dup p.? p.? 23 22 602714 -17 3' 86.9746 X.74 0.850505 9.29238 86.9746 X.74 0.850505 8.51177 0 rs541574979 yes no Frequency 1 0.000000 0 0.000799 0.001500 0.001000 0.000000 0.001000 0.000000 0.002964 0.000671 0.001011 0.005996 0.000985 0.000793 0.003842 0.005530 0.004821 0.005996 511 11 21 47 11 16 280 104 21 172392 16390 20770 7838 11168 20186 72876 18808 4356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 511 11 21 47 11 16 280 104 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8074 4184 12258 92 22 114 0.0112662 0.00523062 0.00921435 0.0112662 0.00523062 0.00921435 72 T 255 Pass . . . . . . . . . . . . . . . . 0.32692307 . . . 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 52 . . . . . . 0.0052 0.0091 0.011 . . . . . . . . . . . . . . 0 0.0028 0 0.0007 0.0146 0.0047 0.0043 0.0013 0 0.0023 0 0.0016 0.0146 0.0034 0.0067 0.0013 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000148848 ADAM12 ADAM12 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs541574979 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv324e1 . . . . . . 0.0011 0.0028 0.0011 0.0061 0.0012 0.0054 0.0034 0.0032 0.0008 0.0002 0.0039 0 0.0034 0 0.0060 0.0058 0.0110 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +rs139123090 10 128147738 G A - C10orf90 26563 Chromosome 10 open reading frame 90 NM_001350921.1 -1 3288 2391 NP_001337850.1 substitution missense exon GRCh37 128147738 128147738 Chr10(GRCh37):g.128147738G>A 2059 2059 NM_001350921.1:c.2059C>T p.Arg687Trp p.Arg687Trp 7 617735 49 3' 85.0021 8.15766 0.986955 5.1384 85.0021 8.15766 0.986955 4.43344 0 rs139123090 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.003338 0.000666 0.000784 0.000591 0.000053 0.000715 0.004350 0.011183 0.002165 0.011183 925 16 27 6 1 22 551 288 14 277148 24032 34420 10150 18870 30782 126674 25754 6466 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 923 16 27 6 1 22 549 288 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4403 12970 33 3 36 0.00383721 0.00068089 0.00276795 0.00383721 0.00068089 0.00276795 157 COSM3768987|COSM3768987 Pancreas|Large intestine 0.001138|0.000448 1758|2231 transition C T C>T 0.976 0.932 R Arg CGG 0.207 W Trp TGG 1.000 687 12 11 Chicken -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 241.31 94.79 Deleterious 0 III.86 255 PASS . 0.0018 . . 0.01 . 0.001 0.0014 . 0.004 . . . C10orf90:NM_001004298:exon6:c.C1768T:p.R590W . . 0.50476193 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.950 . @ . . . . . 1 0.988 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R590W|C10orf90|mRNA|CODING|NM_001004298|NM_001004298.ex.6) 0.0007 0.0028 0.0038 0.0007 0.0028 0.0038 . 0.5182 0.457 0.518 c . . . . . 3.362e-03 . . . 0.0007 0.0023 0.0008 0.0002 0.0105 0.0032 0.0028 0.0008 0.0008 0.0034 0.0008 0.0001 0.0106 0.0047 0.0043 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.679 . . exonic exonic exonic . . 0.469 0.0010 . . . 0.23 0.53 182 ENSG00000154493 C10orf90 C10orf90 . . . 1.000 0.747 . 206 0.0031704 64976 201 0.00335078 59986 Uncertain_significance . 0 . 0.399 . . . . . . . . . 37 . 0.707 . . 0.759 . . . 0.851 0.389 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.954 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.426 . 0.920 . HET 0 rs139123090 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 X.33 5.35E-4 . 5.I 4.IX . 0.000000 . . . Name\x3desv2677894 0.002768 . 0.285 . . 4.IX 0.0006 0.0033 0.0008 0.0006 5.798e-05 0.0108 0.0045 0.0022 0.0007 0.0008 0.0036 0.0012 0 0 0.0137 0.0035 0.0020 . . 0.133 . 1.289 1.289000 . . 0.000000 . . 1.0E-255 0.996 0.391 . 0.461 0.993 . 0.456 . 0.713 1.289 0.917 0.01 . . rs139123090 rs139123090 1 1538 10 1/0 0,255,255 +rs138888836 10 129905906 C A - MKI67 7107 Antigen identified by monoclonal antibody Ki-67 NM_002417.4 -1 12497 9771 NP_002408.3 P46013 substitution missense exon GRCh37 129905906 129905906 Chr10(GRCh37):g.129905906C>A 4198 4198 NM_002417.4:c.4198G>T p.Val1400Leu p.Val1400Leu 13 176741 1782 3' 99.4088 9.78298 0.954012 8.01767 99.4088 9.78298 0.954012 8.01767 0 K167R rs138888836 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000800 0.000000 0.000000 0.004000 0.004300 0.002825 0.000707 0.002237 0.000000 0.000000 0.000032 0.004856 0.002094 0.002939 0.004856 783 17 77 0 0 1 615 54 19 277150 24030 34416 10152 18870 30782 126646 25790 6464 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 776 16 77 0 0 1 611 52 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8562 4404 12966 38 2 40 0.0044186 0.000453926 0.0030755 0.0044186 0.000453926 0.0030755 263 transversion G T G>T 0.000 -0.360 V Val GTA 0.114 L Leu TTA 0.073 1400 6 4 Cow 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 30.92 0.00 Tolerated 0.43 III.64 good 2.642E-1 0.00114 255 PASS . 0.0027 0.01 . 0.0026 0.0008 0.0016 0.0043 . 0.004 . . . . . . 0.47674417 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.160 . @ . . . . . 1 0.073 . . 172.0 . . . 0.0005 0.0031 0.0044 0.0005 0.0031 0.0044 . -1.0937 -1.247 -1.094 c . . . . . 2.589e-03 . . . 0.0004 0.0025 0.0021 0 0.0013 0.0046 0.0056 0 0.0004 0.0024 0.0020 0 0.0020 0.0040 0.0058 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.042 . . exonic exonic exonic . . 0.111 0.0016 . . . 0.33 0.21 182 ENSG00000148773 MKI67 MKI67 . . . 0.642 0.221 . 294 0.00452475 64976 287 0.00478445 59986 Uncertain_significance . 0 . . . . . . T 0.076 0.003 . . 37 . 0.047 . . 0.368 . . . 0.288 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.216 . . 0 0 0 0 0 0 . 0.537 . . 0.543 . . . . . . 0 0.148 . . . . . 0.103 . 0.124 . HET 0.1 rs138888836 . . . . . . . 0.0027472527472527475 0.0 0.011049723756906077 0.0 0.002638522427440633 4.301 2.68E-4 . III.63 -0.57 . 0.410000 . . . . 0.003076 . 0.143 . . . 0.0004 0.0026 0.0022 0 0 0.0022 0.0045 0.0033 3.249e-05 0.0013 0.0042 0.0036 0 0 0.0011 0.0075 0.0010 . . 0.730 . 0.018 0.018000 . . 0.410000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.003 . 0.055 0.018 -0.523 0.01 . . rs138888836 rs138888836 1 1538 10 1/0 0,237,255 +. 10 134726111 TCTCTCT T - CFAP46 25247 Cilia and flagella associated protein 46 NM_001200049.2 -1 8278 8148 NP_001186978.2 Q8IYW2 delins intron GRCh37 134726111 134726117 Chr10(GRCh37):g.134726111_134726117delinsT 2499+42 2499+48 NM_001200049.2:c.2499+42_2499+48delinsA p.? p.? 19 19 42 5' 68.1351 6.42714 0.390068 7.47761 68.1351 6.42714 0.390068 7.30203 0 A GAGAGAG 255 Pass . . . . . . . . . . . . . . . . 0.4520548 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 73 . . INTRON(MODIFIER||||CFAP46|mRNA|CODING|NM_001200049|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000171811 TTC40 CFAP46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +. 10 135105973 CCGTGT C - TUBGCP2 18599 Tubulin, gamma complex associated protein 2 NM_001256617.1 -1 4302 2793 NP_001243546.1 delins intron GRCh37 135105973 135105978 Chr10(GRCh37):g.135105973_135105978delinsC 1298+25 1298+30 NM_001256617.1:c.1298+25_1298+30delinsG p.? p.? 9 9 617817 25 5' 84.9006 9.46092 0.962897 8.38512 84.9006 9.46092 0.962897 9.02045 0 G CACGGA 255 Pass . . . . . . . . . . . . . . . . 0.33333334 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000130640 TUBGCP2 TUBGCP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,48 +. 10 135169081 G A - FUOM 24733 Fucose mutarotase NM_001098483.2 -1 699 465 NP_001091953.1 A2VDF0 substitution intron GRCh37 135169081 135169081 Chr10(GRCh37):g.135169081G>A 399-141 399-141 NM_001098483.2:c.399-141C>T p.? p.? 6 5 617725 -141 3' 87.7378 6.61372 0.980231 5.00007 87.7378 6.61372 0.980231 5.00007 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30926 8720 836 302 1622 0 14972 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000148803 FUOM FUOM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.234e-05 0 0 0 0 6.679e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796149674 10 135472959 G T - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution exon GRCh37 135472959 135472959 Chr10(GRCh37):g.135472959G>T 324 324 ENST00000438421.1:n.324C>A 4 3 3' 0 6.36541 0.983425 6.23991 0 5.99189 0.980352 5.81396 -0.0309025 rs796149674 no no 0 0.000000 0 transversion C A C>A 0.992 0.286 255 PASS . . . . . . . . . . . . . . . . 0.53504676 . . @ 229 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 428.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32660\x3bdist\x3d7599 dist\x3d32660\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,208 +rs796735936 10 135472960 C G - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution exon GRCh37 135472960 135472960 Chr10(GRCh37):g.135472960C>G 323 323 ENST00000438421.1:n.323G>C 4 2 3' 0 6.36541 0.983425 6.23991 0 6.85792 0.988216 7.08601 0.0411226 rs796735936 no no 0 0.000000 0 transversion G C G>C 1.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.54004574 . . @ 236 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 437.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.62 0.25 182 ENSG00000230468 . . . dist\x3d32661\x3bdist\x3d7598 dist\x3d32661\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,206 +rs183898919 10 135472967 A G - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135472967 135472967 Chr10(GRCh37):g.135472967A>G 322-6 322-6 ENST00000438421.1:n.322-6T>C p.? p.? 4 3 -6 3' 0 6.36541 0.983425 6.23991 0 5.79573 0.98074 5.52788 -0.0461135 rs183898919 no no 0 0.000000 0 transition T C T>C 0.961 0.690 255 PASS . . . . . . . . . . . . . . . . 0.5486111 . . @ 237 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 432.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.4 0.21 182 ENSG00000230468 . . . dist\x3d32668\x3bdist\x3d7591 dist\x3d32668\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs183898919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs183898919 rs183898919 1 1538 10 1/0 0,198,208 +. 10 135472982 GACTAGGCAAGGG G - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 deletion intron GRCh37 135472979 135472990 Chr10(GRCh37):g.135472979_135472990del 322-29 322-18 ENST00000438421.1:n.322-29_322-18del p.? p.? 4 3 -18 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 3.68165 0 TGCCTAGTCCCT 255 Pass . . . . . . . . . . . . . . . . 0.34311512 . . . 152 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 443 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . . . . . . . . ENSG00000230468 . . . dist\x3d32684\x3bdist\x3d7564 dist\x3d32684\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 10 135472983 A AGAAAAT - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 insertion intron GRCh37 135472983 135472984 Chr10(GRCh37):g.135472983_135472984insGAAAAT 322-23 322-22 ENST00000438421.1:n.322-23_322-22insATTTTC p.? p.? 4 3 -22 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 7.09182 0 Cryptic Acceptor Strongly Activated 135472972 4.37667 0.738434 7.77832 0.966199 75.6219 ATTTTC 255 Pass . . . . . . . . . . . . . . . . 0.14955357 . . . 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 448 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . . . . . . . . ENSG00000230468 . . . dist\x3d32684\x3bdist\x3d7575 dist\x3d32684\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,83 +. 10 135472988 G A - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135472988 135472988 Chr10(GRCh37):g.135472988G>A 322-27 322-27 ENST00000438421.1:n.322-27C>T p.? p.? 4 3 -27 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.24556 0 transition C T C>T 0.362 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.34013605 . . @ 150 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 441.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32689\x3bdist\x3d7570 dist\x3d32689\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,200,230 +. 10 135473007 CCCA C - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 deletion intron GRCh37 135473008 135473010 Chr10(GRCh37):g.135473008_135473010del 322-49 322-47 ENST00000438421.1:n.322-49_322-47del p.? p.? 4 3 -47 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 5.21883 0 Cryptic Donor Strongly Activated 135473015 0.013353 62.6322 5.26343 0.228266 75.025 rs758357501 no no 0 0.000000 0 0.005945 0.006103 0.011945 0.000000 0.019784 0.000000 0.003747 0.010449 0.002667 0.019784 147 42 7 0 22 0 47 27 2 24726 6882 586 268 1112 0 12544 2584 750 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 147 42 7 0 22 0 47 27 2 0 0 0 0 0 0 0 0 0 RF 54 Genomes TGG 255 Pass . . . . . . . . . . . . . . . . 0.1292517 . . . 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 441 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . . . . . . . . ENSG00000230468 . . . dist\x3d32709\x3bdist\x3d7548 dist\x3d32709\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs758357501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0061 0.0059 0.0119 0 0.0198 0.0104 0.0037 0.0027 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs370923129 . 1 1538 10 1.I 0,5,89 +rs796466759 10 135473020 C T - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473020 135473020 Chr10(GRCh37):g.135473020C>T 322-59 322-59 ENST00000438421.1:n.322-59G>A p.? p.? 4 3 -59 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.20711 0 rs796466759 no no 0 0.000000 0 transition G A G>A 0.071 0.367 251 PASS . . . . . . . . . . . . . . . . 0.30715936 . . @ 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 433.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32721\x3bdist\x3d7538 dist\x3d32721\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,244 +rs796571847 10 135473026 T C - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473026 135473026 Chr10(GRCh37):g.135473026T>C 322-65 322-65 ENST00000438421.1:n.322-65A>G p.? p.? 4 3 -65 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.36397 0 rs796571847 no no 0 0.000000 0 transition A G A>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.32853717 . . @ 137 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 417.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32727\x3bdist\x3d7532 dist\x3d32727\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,244 +rs370541096 10 135473048 T C - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473048 135473048 Chr10(GRCh37):g.135473048T>C 322-87 322-87 ENST00000438421.1:n.322-87A>G p.? p.? 4 3 -87 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.23991 0 New Donor Site 135473049 3.89415 0.169623 64.2655 rs370541096 no no 0 0.000000 0 0.000410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000699 0.000300 0.001080 0.000699 12 0 0 0 0 0 10 1 1 29252 8160 806 298 1408 0 14316 3338 926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 0 0 0 10 1 1 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition A G A>G 0.291 0.367 255 PASS . . . . . . . . . . . . . . . . 0.43026707 . . @ 145 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 337.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.39 0.33 182 ENSG00000230468 . . . dist\x3d32749\x3bdist\x3d7510 dist\x3d32749\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs370541096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0.0003 0.0007 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112747904 rs112747904 1 1538 10 1/0 0,207,254 +rs374532556 10 135473049 G A - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473049 135473049 Chr10(GRCh37):g.135473049G>A 322-88 322-88 ENST00000438421.1:n.322-88C>T p.? p.? 4 3 -88 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.23991 0 rs374532556 no no 0 0.000000 0 transition C T C>T 0.323 0.367 248 PASS . . . . . . . . . . . . . . . . 0.2969697 . . @ 98 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 330.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000230468 . . . dist\x3d32750\x3bdist\x3d7509 dist\x3d32750\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs374532556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . rs374532556 . 1 1538 10 1/0 0,194,255 +. 10 135473056 C A - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473056 135473056 Chr10(GRCh37):g.135473056C>A 322-95 322-95 ENST00000438421.1:n.322-95G>T p.? p.? 4 3 -95 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.23991 0 transversion G T G>T 0.260 1.335 176 PASS . . . . . . . . . . . . . . . . 0.105610564 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 303.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.37 0.26 182 ENSG00000230468 . . . dist\x3d32757\x3bdist\x3d7502 dist\x3d32757\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs112556087 rs112556087 1 1538 10 1/0 0,179,255 +rs182056352 10 135473082 C A - CLUHP5 38471 Clustered mitochondria (cluA/CLU1) homolog pseudogene 5 ENST00000438421.1 -1 774 0 substitution intron GRCh37 135473082 135473082 Chr10(GRCh37):g.135473082C>A 322-121 322-121 ENST00000438421.1:n.322-121G>T p.? p.? 4 3 -121 3' 0 6.36541 0.983425 6.23991 0 6.36541 0.983425 6.23991 0 rs182056352 no no 0 0.000000 0 transversion G T G>T 0.630 0.367 234 PASS . . . . . . . . . . . . . . . . 0.25373134 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 201.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.4 0.25 182 ENSG00000230468 . . . dist\x3d32783\x3bdist\x3d7476 dist\x3d32783\x3bdist\x3dNONE . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs182056352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . rs182056352 rs182056352 1 1538 10 1/0 0,212,255 +. (chr10:135477976 C/G) 10 135477976 C G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +rs76669738 (chr10:135477988 C/T) 10 135477988 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135477992 C/T) 10 135477992 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +rs79316253 (chr10:135477994 C/T) 10 135477994 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135477998 G/C) 10 135477998 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478004 C/T) 10 135478004 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478013 C/G) 10 135478013 C G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478015 C/T) 10 135478015 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478016 G/A) 10 135478016 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478045 C/T) 10 135478045 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478046 G/A) 10 135478046 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +rs112864343 (chr10:135478049 G/A) 10 135478049 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478050 C/T) 10 135478050 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478052 C/T) 10 135478052 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478061 C/T) 10 135478061 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478062 G/C) 10 135478062 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478063 C/T) 10 135478063 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478067 C/T) 10 135478067 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478076 G/A) 10 135478076 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478084 C/T) 10 135478084 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478085 G/A) 10 135478085 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478088 C/A) 10 135478088 C A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478117 G/A) 10 135478117 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478121 G/T) 10 135478121 G T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478132 C/T) 10 135478132 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478133 G/A) 10 135478133 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478429 C/G) 10 135478429 C G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478432 G/C) 10 135478432 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478447 G/C) 10 135478447 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478475 G/A) 10 135478475 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478481 G/A) 10 135478481 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478499 G/A) 10 135478499 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478506 C/T) 10 135478506 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478543 C/T) 10 135478543 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478553 C/T) 10 135478553 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478559 G/A) 10 135478559 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478707 C/T) 10 135478707 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478709 G/C) 10 135478709 G C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478759 C/T) 10 135478759 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478787 C/T) 10 135478787 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478788 G/A) 10 135478788 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478794 C/T) 10 135478794 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478818 G/A) 10 135478818 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478828 G/T) 10 135478828 G T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478833 G/A) 10 135478833 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478850 G/T) 10 135478850 G T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135478856 C/T) 10 135478856 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479548 G/A) 10 135479548 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479554 G/T) 10 135479554 G T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479565 G/A) 10 135479565 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479580 C/A) 10 135479580 C A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479582 G/A) 10 135479582 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479625 C/A) 10 135479625 C A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479626 G/A) 10 135479626 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135479627 C/T) 10 135479627 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480649 A/C) 10 135480649 A C No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480679 A/G) 10 135480679 A G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480708 A/G) 10 135480708 A G No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480712 C/T) 10 135480712 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480718 C/A) 10 135480718 C A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480737 C/T) 10 135480737 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480772 C/T) 10 135480772 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480780 G/A) 10 135480780 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480792 C/T) 10 135480792 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480793 G/A) 10 135480793 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480822 C/T) 10 135480822 C T No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480831 G/A) 10 135480831 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480872 G/A) 10 135480872 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480890 G/A) 10 135480890 G A No Alamut gene - other known genes: DUX4L10, DUX4L11 DUX4L10 +. (chr10:135480929 C/A) 10 135480929 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +rs201126909 (chr10:135480937 C/A) 10 135480937 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481112 G/C) 10 135481112 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481126 G/A) 10 135481126 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481137 C/T) 10 135481137 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481165 G/T) 10 135481165 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481194 C/T) 10 135481194 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481206 C/T) 10 135481206 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481209 G/A) 10 135481209 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481217 C/T) 10 135481217 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481228 G/A) 10 135481228 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481247 C/T) 10 135481247 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481276 G/A) 10 135481276 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481286 C/G) 10 135481286 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481289 C/T) 10 135481289 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481298 C/T) 10 135481298 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481302 C/T) 10 135481302 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481304 C/T) 10 135481304 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481308 G/C) 10 135481308 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481325 C/T) 10 135481325 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481356 G/A) 10 135481356 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481359 G/A) 10 135481359 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481362 C/T) 10 135481362 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481371 C/T) 10 135481371 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481378 G/A) 10 135481378 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481380 C/T) 10 135481380 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481381 G/A) 10 135481381 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481386 G/A) 10 135481386 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481398 C/A) 10 135481398 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481404 G/A) 10 135481404 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481426 C/T) 10 135481426 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481427 G/A) 10 135481427 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481436 C/T) 10 135481436 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481442 C/T) 10 135481442 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481739 C/G) 10 135481739 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481742 G/C) 10 135481742 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481757 G/C) 10 135481757 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481759 G/A) 10 135481759 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481777 C/A) 10 135481777 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481791 G/A) 10 135481791 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481809 G/A) 10 135481809 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481816 C/T) 10 135481816 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481853 C/T) 10 135481853 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481863 C/T) 10 135481863 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135481869 G/A) 10 135481869 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482069 C/T) 10 135482069 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482086 A/G) 10 135482086 A G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482098 G/A) 10 135482098 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482128 G/A) 10 135482128 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482138 G/T) 10 135482138 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482166 C/T) 10 135482166 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482864 G/T) 10 135482864 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482875 G/A) 10 135482875 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482890 C/A) 10 135482890 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482892 G/A) 10 135482892 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482936 G/A) 10 135482936 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482937 C/T) 10 135482937 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135482971 T/C) 10 135482971 T C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135483959 A/C) 10 135483959 A C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135483989 A/G) 10 135483989 A G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484011 G/A) 10 135484011 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484018 A/G) 10 135484018 A G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484022 C/T) 10 135484022 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484028 C/A) 10 135484028 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484047 C/T) 10 135484047 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484082 C/T) 10 135484082 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484083 G/A) 10 135484083 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484090 G/A) 10 135484090 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484102 C/T) 10 135484102 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484103 G/A) 10 135484103 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484115 C/T) 10 135484115 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484132 C/T) 10 135484132 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484140 C/T) 10 135484140 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484141 G/A) 10 135484141 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484181 C/T) 10 135484181 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484200 G/A) 10 135484200 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484203 G/A) 10 135484203 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12 DUX4L10 +. (chr10:135484239 C/A) 10 135484239 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +rs201140691 (chr10:135484339 G/A) 10 135484339 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484416 G/T) 10 135484416 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484422 G/C) 10 135484422 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484426 C/A) 10 135484426 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484447 C/T) 10 135484447 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484452 T/C) 10 135484452 T C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484453 G/A) 10 135484453 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484475 G/T) 10 135484475 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484531 G/T) 10 135484531 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484557 C/T) 10 135484557 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484558 G/A) 10 135484558 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484596 C/G) 10 135484596 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484608 C/T) 10 135484608 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484612 C/T) 10 135484612 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484614 C/T) 10 135484614 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484618 G/C) 10 135484618 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484635 C/T) 10 135484635 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484638 C/T) 10 135484638 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484665 C/T) 10 135484665 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484666 G/A) 10 135484666 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484669 G/A) 10 135484669 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484670 C/T) 10 135484670 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484672 C/T) 10 135484672 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484681 C/T) 10 135484681 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484687 C/T) 10 135484687 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484690 C/T) 10 135484690 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484691 G/A) 10 135484691 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484696 G/A) 10 135484696 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484708 C/A) 10 135484708 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484713 C/T) 10 135484713 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484751 C/A) 10 135484751 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484752 C/T) 10 135484752 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135484753 G/A) 10 135484753 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485049 C/G) 10 135485049 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485052 G/C) 10 135485052 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485067 G/C) 10 135485067 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485094 C/T) 10 135485094 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485101 G/A) 10 135485101 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485118 C/T) 10 135485118 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485124 C/A) 10 135485124 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485126 C/T) 10 135485126 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485163 C/T) 10 135485163 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485164 G/C) 10 135485164 G C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485176 C/A) 10 135485176 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485179 G/A) 10 135485179 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485197 C/G) 10 135485197 C G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485379 C/T) 10 135485379 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485387 C/T) 10 135485387 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485396 A/G) 10 135485396 A G No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485403 A/C) 10 135485403 A C No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485408 G/A) 10 135485408 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485438 G/A) 10 135485438 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485445 C/A) 10 135485445 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485453 G/A) 10 135485453 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485470 G/T) 10 135485470 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485476 C/T) 10 135485476 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135485477 G/A) 10 135485477 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486167 G/A) 10 135486167 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486173 G/T) 10 135486173 G T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486184 G/A) 10 135486184 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486199 C/A) 10 135486199 C A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486201 G/A) 10 135486201 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486245 G/A) 10 135486245 G A No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135486246 C/T) 10 135486246 C T No Alamut gene - other known genes: DUX4L10, DUX4L11, DUX4L12, DUX4L13 DUX4L10 +. (chr10:135487268 A/C) 10 135487268 A C No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487298 A/G) 10 135487298 A G No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487309 C/T) 10 135487309 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487320 G/A) 10 135487320 G A No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487327 A/G) 10 135487327 A G No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487331 C/T) 10 135487331 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487356 C/T) 10 135487356 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +rs375552909 (chr10:135487391 C/T) 10 135487391 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +rs369508442 (chr10:135487424 C/T) 10 135487424 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487441 C/T) 10 135487441 C T No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487450 G/A) 10 135487450 G A No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487469 T/C) 10 135487469 T C No Alamut gene - other known genes: DUX4L12, DUX4L13 DUX4L12 +. (chr10:135487491 G/A) 10 135487491 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs796112917 (chr10:135487509 G/A) 10 135487509 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs375663717 (chr10:135487808 G/A) 10 135487808 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487813 C/T) 10 135487813 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487822 C/T) 10 135487822 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487836 C/T) 10 135487836 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs797010396 (chr10:135487847 G/A) 10 135487847 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487864 C/T) 10 135487864 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487867 G/A) 10 135487867 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487872 G/T) 10 135487872 G T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs372458688 (chr10:135487905 C/G) 10 135487905 C G No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487916 G/A) 10 135487916 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs796797441 (chr10:135487917 C/T) 10 135487917 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487923 C/T) 10 135487923 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487927 G/C) 10 135487927 G C No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487944 C/T) 10 135487944 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487978 G/A) 10 135487978 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487979 C/T) 10 135487979 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487981 C/T) 10 135487981 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135487990 C/T) 10 135487990 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488000 G/A) 10 135488000 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488013 C/T) 10 135488013 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488017 C/A) 10 135488017 C A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488018 G/T) 10 135488018 G T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488045 C/T) 10 135488045 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488055 C/T) 10 135488055 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488061 C/T) 10 135488061 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488358 C/G) 10 135488358 C G No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488361 G/C) 10 135488361 G C No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488376 G/C) 10 135488376 G C No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488378 G/A) 10 135488378 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488409 C/T) 10 135488409 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488410 G/A) 10 135488410 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488435 C/T) 10 135488435 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488454 C/T) 10 135488454 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +rs112663446 (chr10:135488472 C/T) 10 135488472 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488482 C/T) 10 135488482 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488488 G/A) 10 135488488 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488489 C/A) 10 135488489 C A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488519 C/T) 10 135488519 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488688 C/T) 10 135488688 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488716 C/T) 10 135488716 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488717 G/A) 10 135488717 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488778 G/T) 10 135488778 G T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135488786 G/A) 10 135488786 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489477 G/A) 10 135489477 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489483 G/T) 10 135489483 G T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489494 G/A) 10 135489494 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489500 G/A) 10 135489500 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489509 C/A) 10 135489509 C A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489511 G/A) 10 135489511 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489555 G/A) 10 135489555 G A No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489556 C/T) 10 135489556 C T No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135489590 T/C) 10 135489590 T C No Alamut gene - other known genes: DUX4L12, DUX4L13, DUX4L14 DUX4L12 +. (chr10:135490624 C/T) 10 135490624 C T No Alamut gene - other known genes: DUX4L13, DUX4L14 DUX4L13 +rs368219871 (chr10:135490655 C/T) 10 135490655 C T No Alamut gene - other known genes: DUX4L13, DUX4L14 DUX4L13 +rs376559432 (chr10:135490665 C/T) 10 135490665 C T No Alamut gene - other known genes: DUX4L13, DUX4L14 DUX4L13 +rs756255131 (chr10:135491045 C/T) 10 135491045 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs779906704 (chr10:135491107 G/A) 10 135491107 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs372607348 (chr10:135491163 C/T) 10 135491163 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs770961925 (chr10:135491243 C/T) 10 135491243 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs767689959 (chr10:135491273 C/T) 10 135491273 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs796500163 (chr10:135491299 G/A) 10 135491299 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs796602017 (chr10:135491312 C/T) 10 135491312 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs762702201 (chr10:135491313 G/A) 10 135491313 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491321 C/T) 10 135491321 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491344 C/T) 10 135491344 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491345 G/A) 10 135491345 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs766382157 (chr10:135491354 C/T) 10 135491354 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491709 G/A) 10 135491709 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs745884001 (chr10:135491726 C/T) 10 135491726 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs772209462 (chr10:135491734 C/T) 10 135491734 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491749 G/T) 10 135491749 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs775558768 (chr10:135491771 C/T) 10 135491771 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491781 C/T) 10 135491781 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491787 G/A) 10 135491787 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135491987 C/T) 10 135491987 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492016 G/A) 10 135492016 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492049 G/T) 10 135492049 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492084 C/T) 10 135492084 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492085 G/A) 10 135492085 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492776 G/A) 10 135492776 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492782 G/T) 10 135492782 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492793 G/A) 10 135492793 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492808 C/A) 10 135492808 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492810 G/A) 10 135492810 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492854 G/A) 10 135492854 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135492855 C/T) 10 135492855 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493804 T/G) 10 135493804 T G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs201800023 (chr10:135493877 A/C) 10 135493877 A C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493907 A/G) 10 135493907 A G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493929 G/A) 10 135493929 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493936 A/G) 10 135493936 A G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135493940 C/T) 10 135493940 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs199955597 (chr10:135493946 C/A) 10 135493946 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494000 C/T) 10 135494000 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494008 G/A) 10 135494008 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494014 G/A) 10 135494014 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494021 G/A) 10 135494021 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494033 C/T) 10 135494033 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200792906 (chr10:135494059 G/A) 10 135494059 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200475510 (chr10:135494157 C/A) 10 135494157 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs199991370 (chr10:135494165 C/A) 10 135494165 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200609721 (chr10:135494252 C/A) 10 135494252 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200202091 (chr10:135494257 G/A) 10 135494257 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494340 G/C) 10 135494340 G C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494354 G/A) 10 135494354 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494393 G/T) 10 135494393 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494422 C/T) 10 135494422 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494445 C/T) 10 135494445 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494455 C/T) 10 135494455 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494475 C/T) 10 135494475 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494476 G/A) 10 135494476 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494504 G/A) 10 135494504 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494514 C/G) 10 135494514 C G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494517 C/T) 10 135494517 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494525 G/A) 10 135494525 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494526 C/T) 10 135494526 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494530 C/T) 10 135494530 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494532 C/T) 10 135494532 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494536 G/C) 10 135494536 G C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494554 G/A) 10 135494554 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494557 G/A) 10 135494557 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494584 G/A) 10 135494584 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494587 G/A) 10 135494587 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494588 C/T) 10 135494588 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494590 C/T) 10 135494590 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494599 C/T) 10 135494599 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494605 C/T) 10 135494605 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494609 G/A) 10 135494609 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494614 G/A) 10 135494614 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494623 G/A) 10 135494623 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494626 C/A) 10 135494626 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494632 G/A) 10 135494632 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494654 C/T) 10 135494654 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494655 G/A) 10 135494655 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494664 C/T) 10 135494664 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494670 C/T) 10 135494670 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494967 C/G) 10 135494967 C G No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135494970 G/C) 10 135494970 G C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs201616598 (chr10:135494985 G/C) 10 135494985 G C No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495037 G/A) 10 135495037 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495044 C/T) 10 135495044 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495054 C/T) 10 135495054 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495061 C/A) 10 135495061 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200867431 (chr10:135495064 G/A) 10 135495064 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495070 G/T) 10 135495070 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495081 C/T) 10 135495081 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495083 G/T) 10 135495083 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495092 G/A) 10 135495092 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495097 G/A) 10 135495097 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200443906 (chr10:135495297 C/T) 10 135495297 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs200364111 (chr10:135495326 G/A) 10 135495326 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495384 G/A) 10 135495384 G A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135495394 C/T) 10 135495394 C T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +. (chr10:135496092 G/T) 10 135496092 G T No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs202083120 (chr10:135496118 C/A) 10 135496118 C A No Alamut gene - other known genes: DUX4L13, DUX4L14, DUX4L15 DUX4L13 +rs201639011 (chr10:135497176 A/C) 10 135497176 A C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497206 A/G) 10 135497206 A G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497235 A/G) 10 135497235 A G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497239 C/T) 10 135497239 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs199890429 (chr10:135497245 C/A) 10 135497245 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497264 C/T) 10 135497264 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497284 C/T) 10 135497284 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs187336431 (chr10:135497299 C/T) 10 135497299 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497307 G/A) 10 135497307 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497319 C/T) 10 135497319 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs192063109 (chr10:135497320 G/A) 10 135497320 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs183675791 (chr10:135497332 C/T) 10 135497332 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497350 G/A) 10 135497350 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497357 C/T) 10 135497357 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs111976845 (chr10:135497358 G/A) 10 135497358 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497377 T/C) 10 135497377 T C No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs186261149 (chr10:135497398 C/T) 10 135497398 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497417 G/A) 10 135497417 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497456 C/A) 10 135497456 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs190679214 (chr10:135497464 C/A) 10 135497464 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497619 G/A) 10 135497619 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs182705550 (chr10:135497639 G/C) 10 135497639 G C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497643 C/A) 10 135497643 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497653 G/A) 10 135497653 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497664 C/T) 10 135497664 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497669 T/C) 10 135497669 T C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497670 G/A) 10 135497670 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497744 C/T) 10 135497744 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497748 G/T) 10 135497748 G T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497774 C/T) 10 135497774 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497775 G/A) 10 135497775 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs188771625 (chr10:135497813 C/G) 10 135497813 C G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497816 C/T) 10 135497816 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs200789780 (chr10:135497825 C/T) 10 135497825 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497829 C/T) 10 135497829 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497831 C/T) 10 135497831 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs201903847 (chr10:135497835 G/C) 10 135497835 G C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497855 C/T) 10 135497855 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs112638242 (chr10:135497886 G/A) 10 135497886 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497887 C/T) 10 135497887 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs113010147 (chr10:135497898 C/T) 10 135497898 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497908 G/A) 10 135497908 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497912 C/T) 10 135497912 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497918 C/T) 10 135497918 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497922 G/A) 10 135497922 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs112561965 (chr10:135497925 C/A) 10 135497925 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs180817465 (chr10:135497969 C/T) 10 135497969 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135497970 G/A) 10 135497970 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498266 C/G) 10 135498266 C G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498269 G/C) 10 135498269 G C No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498284 G/C) 10 135498284 G C No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs182833990 (chr10:135498318 G/A) 10 135498318 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498343 C/T) 10 135498343 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs113084860 (chr10:135498380 C/T) 10 135498380 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498390 C/T) 10 135498390 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498588 C/A) 10 135498588 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs184444133 (chr10:135498596 C/T) 10 135498596 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498604 C/A) 10 135498604 C A No Alamut gene - other known genes: DUX4L15 DUX4L15 +rs199800255 (chr10:135498613 A/G) 10 135498613 A G No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498624 C/T) 10 135498624 C T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498625 G/A) 10 135498625 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498686 G/T) 10 135498686 G T No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135498694 G/A) 10 135498694 G A No Alamut gene - other known genes: DUX4L15 DUX4L15 +. (chr10:135515806 G/T) 10 135515806 G T Not on a known gene +. (chr10:135515820 C/G) 10 135515820 C G Not on a known gene +. (chr10:135515944 C/T) 10 135515944 C T Not on a known gene +rs879164280 (chr11:87422 T/C) 11 87422 T C Not on a known gene +rs12278773 11 294523 C T - PGGHG 26210 Protein-glucosylgalactosylhydroxylysine glucosidase NM_025092.4 1 3268 2214 NP_079368.3 Q32M88 substitution intron GRCh37 294523 294523 Chr11(GRCh37):g.294523C>T 2021-33 2021-33 NM_025092.4:c.2021-33C>T p.? p.? 14 13 617032 -33 3' 90.0488 XII.15 0.949883 12.1449 90.0488 XII.15 0.949883 12.0226 0 Cryptic Acceptor Weakly Activated 294537 7.23583 0.468165 79.5413 7.90285 0.451469 82.3142 rs12278773 yes no Frequency/1000G 2 T 0.000000 0 0.004306 0.005854 0.003585 0.004741 0.002245 0.010707 0.003140 0.005236 0.004147 0.010707 633 66 67 26 27 152 222 59 14 147012 11274 18690 5484 12026 14196 70698 11268 3376 0.000041 0.000177 0.000000 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 3 1 0 0 0 0 2 0 0 627 64 67 26 27 152 218 59 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.279 255 PASS 0.33 0.33 0.35 0.28 0.35 . . . . . . . . . . . 0.41269842 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.2033 . . . . . . . . 6.198e-03 . . . 0.0071 0.0031 0.0002 0.0021 0.0008 0.0026 0 0.0050 0.0077 0.0027 0.0001 0.0018 0.0012 0.0021 0 0.0051 . . . . . . intronic intronic intronic . . . @ . . . 0.1 0.1 182 ENSG00000142102 ATHL1 ATHL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs12278773 0.087 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0045 0.0036 0.0048 0.0023 0.0069 0.0033 0.0051 0.0107 0.0103 0.0028 0.0020 0 0.0018 0.0009 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.35 rs12278773 rs12278773 rs12278773 rs12278773 1 1538 10 1/0 0,255,255 +rs12273516 11 294537 G A - PGGHG 26210 Protein-glucosylgalactosylhydroxylysine glucosidase NM_025092.4 1 3268 2214 NP_079368.3 Q32M88 substitution intron GRCh37 294537 294537 Chr11(GRCh37):g.294537G>A 2021-19 2021-19 NM_025092.4:c.2021-19G>A p.? p.? 14 13 617032 -19 3' 90.0488 XII.15 0.949883 12.1449 90.0488 13.2593 0.957389 13.9111 0.011877 rs12273516 yes no Frequency/1000G 2 A 0.000000 0 0.001270 0.000999 0.000899 0.001969 0.000574 0.003983 0.000813 0.002119 0.001543 0.003983 194 11 18 12 7 57 61 23 5 152760 11008 20028 6094 12200 14312 75022 10856 3240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 194 11 18 12 7 57 61 23 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.360 249 PASS 0.21 0.2 0.21 0.16 0.23 . . . . . . . . . . . 0.30508474 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.0078 . . . . . . . . 3.001e-03 . . . 0.0052 0.0021 8.851e-05 0.0011 0.0004 0.0015 0 0.0047 0.0058 0.0018 0 0.0012 0.0010 0.0011 0 0.0048 . . . . . . intronic intronic intronic . . . @ . . . 0.1 0.14 182 ENSG00000142102 ATHL1 ATHL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs12273516 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0013 0.0009 0.0020 0.0006 0.0020 0.0008 0.0017 0.0040 0.0013 0.0009 0 0 0 0.0032 0.0003 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.23 rs12273516 rs12273516 rs12273516 rs12273516 1 1538 10 1/0 0,255,255 +rs9667990 (chr11:314207 C/G) 11 314207 C G Transcript NM_003641.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) IFITM1 +rs114282733 11 373419 C A - B4GALNT4 26315 Beta-1,4-N-acetyl-galactosaminyl transferase 4 NM_178537.4 1 3454 3120 NP_848632.2 Q76KP1 substitution intron GRCh37 373419 373419 Chr11(GRCh37):g.373419C>A 637-30 637-30 NM_178537.4:c.637-30C>A p.? p.? 7 6 -30 3' 79.6902 8.76829 0.927129 XI.23 79.6902 8.76829 0.927129 XI.62 0 rs114282733 yes no Frequency/1000G 2 0.000000 0 transversion C A C>A 0.008 1.739 213 PASS . . . . . . . . . . . . . . . . 0.19607843 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||B4GALNT4|mRNA|CODING|NM_178537|) . . . . . . . 0.2736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.24 182 ENSG00000182272 B4GALNT4 B4GALNT4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114282733 0.076 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.076 . . rs114282733 rs114282733 1 1538 10 1/0 0,255,255 +rs149366587 11 421046 C G - ANO9 20679 Anoctamin 9 NM_001012302.2 -1 2875 2349 NP_001012302.2 A1A5B4 substitution splice site GRCh37 421046 421046 Chr11(GRCh37):g.421046C>G 1393-4 1393-4 NM_001012302.2:c.1393-4G>C p.? p.? 17 16 -4 3' 74.9195 IX.38 0.694738 XII.32 74.9195 9.00796 0.784571 XI.34 0.0163555 rs149366587 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.000800 0.010200 0.000000 0.009900 0.007200 0.008223 0.001775 0.005183 0.004758 0.000053 0.021585 0.009549 0.003342 0.007839 0.021585 2244 42 177 47 1 656 1186 85 50 272880 23664 34150 9878 18782 30392 124204 25432 6378 0.000154 0.000000 0.000000 0.000202 0.000000 0.000790 0.000081 0.000079 0.000627 21 0 0 1 0 12 5 1 2 2202 42 177 45 1 632 1176 83 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8516 4393 12909 70 9 79 0.00815281 0.00204453 0.00608254 0.00815281 0.00204453 0.00608254 24 transversion G C G>C 0.000 -0.924 255 PASS . 0.0046 0.0028 . 0.01 0.0008 0.0052 0.0072 . 0.0099 0.01 . . . . . 0.52380955 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . 0.002 0.0061 0.0082 0.002 0.0061 0.0082 . 0.5345 . . . . . . . . 8.329e-03 . . . 0.0023 0.0104 0.0045 0.0002 0.0019 0.0109 0.0158 0.0242 0.0022 0.0089 0.0043 0.0001 0.0025 0.0085 0.0206 0.0242 . . . . . . intronic intronic intronic . . . 0.0052 . . . 0.3 0.28 182 ENSG00000185101 ANO9 ANO9 . . . . . . 615 0.00946503 64976 589 0.00981896 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149366587 . . . . . . . . . . . . . . . . . . . . 0 0.008 . 0.006083 . . . . . 0.0019 0.0086 0.0051 0.0049 5.826e-05 0.0031 0.0098 0.0083 0.0216 0.0016 0.0053 0.0095 0 0 0.0052 0.0080 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs149366587 rs149366587 1 1538 10 1/0 0,255,255 +rs199751579 11 556048 G A - LMNTD2 28561 Lamin tail domain containing 2 NM_173573.2 -1 2098 1905 NP_775844.2 Q8IXW0 substitution missense exon GRCh37 556048 556048 Chr11(GRCh37):g.556048G>A 1325 1325 NM_173573.2:c.1325C>T p.Pro442Leu p.Pro442Leu 11 -53 5' 76.9822 5.43728 0.097307 XI.61 76.9822 5.43728 0.097307 XI.54 0 Intermediate filament, C-terminal rs199751579 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.004316 0.001426 0.003013 0.004323 0.000081 0.001843 0.006369 0.004670 0.003382 0.006369 909 24 86 37 1 48 626 70 17 210634 16834 28544 8558 12352 26044 98288 14988 5026 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000398 2 0 0 0 0 0 1 0 1 905 24 86 37 1 48 624 70 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7053 3294 10347 37 4 41 0.00521862 0.00121286 0.00394686 0.00521862 0.00121286 0.00394686 11 transition C T C>T 0.000 -0.844 P Pro CCC 0.328 L Leu CTC 0.197 442 12 4 Olive baboon -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 231.39 52.42 Tolerated 0.27 III.44 good 5.368E-1 0.4722 255 PASS . 0.01 0.0028 0.01 0.01 . 0.0004 . . 0.002 . ENSG00000185522:ENST00000329451:exon11:c.C1325T:p.P442L C11orf35:uc001lpx.3:exon11:c.C1325T:p.P442L LMNTD2:NM_173573:exon11:c.C1325T:p.P442L . . 0.5 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.127 . . 36.0 . . . 0.0012 0.0039 0.0052 0.0012 0.0039 0.0052 . -1.6487 -1.753 -1.649 c . . . . . 3.975e-03 . . . 0.0015 0.0047 0.0033 0.0002 0.0044 0.0079 0.0020 0.0019 0.0015 0.0044 0.0031 0.0001 0.0042 0.0066 0.0056 0.0019 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.983 . . exonic exonic exonic . . 0.017 0.0004 . . . 0.16 0.52 182 ENSG00000185522 C11orf35 LMNTD2 . . . 1.000 0.747 . 389 0.00598683 64976 386 0.00643483 59986 Uncertain_significance . 0 . 0.051 . . . . D 0.793 0.114 . . 37 . 0.899 . . 0.833 . . . 0.112 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 1 0.086 . . . . . 0.002 . 0.086 . HET 0.18 rs199751579 . . . . . . . 0.005494505494505495 0.0 0.0027624309392265192 0.008741258741258742 0.0079155672823219 0.2779 0.001072 ENST00000329451 4.VI -6.43 . 0.160000 Q8IXW0 . . . 0.003947 . 0.043 . . . 0.0013 0.0043 0.0031 0.0045 9.316e-05 0.0042 0.0064 0.0030 0.0018 0.0015 0.0044 0.0012 0 0 0.0064 0.0063 0.0051 . . 0.495 . -1.625 -1.625000 . . 0.160000 . . 1.0E-255 0.002 0.151 . 0.016 0.002 . 0.046 . 0.045 -1.625 -0.481 0.01 . . rs199751579 rs199751579 1 1538 10 1/0 0,255,255 +rs199751579 11 556048 G A - LRRC56 25430 Leucine rich repeat containing 56 NM_198075.3 1 2774 1629 NP_932341.1 Q8IYG6 substitution downstream GRCh37 556048 556048 Chr11(GRCh37):g.556048G>A *1772 *1772 NM_198075.3:c.*1772G>A p.? p.? 14 2086 3' 83.6695 9.57281 0.956704 9.0988 83.6695 9.57281 0.956704 9.0988 0 rs199751579 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.004316 0.001426 0.003013 0.004323 0.000081 0.001843 0.006369 0.004670 0.003382 0.006369 909 24 86 37 1 48 626 70 17 210634 16834 28544 8558 12352 26044 98288 14988 5026 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000398 2 0 0 0 0 0 1 0 1 905 24 86 37 1 48 624 70 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7053 3294 10347 37 4 41 0.00521862 0.00121286 0.00394686 0.00521862 0.00121286 0.00394686 11 transition G A G>A 0.000 -0.844 255 PASS . 0.01 0.0028 0.01 0.01 . 0.0004 . . 0.002 . ENSG00000185522:ENST00000329451:exon11:c.C1325T:p.P442L C11orf35:uc001lpx.3:exon11:c.C1325T:p.P442L LMNTD2:NM_173573:exon11:c.C1325T:p.P442L . . 0.5 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.127 . . 36.0 . . . 0.0012 0.0039 0.0052 0.0012 0.0039 0.0052 . -1.6487 -1.753 -1.649 c . . . . . 3.975e-03 . . . 0.0015 0.0047 0.0033 0.0002 0.0044 0.0079 0.0020 0.0019 0.0015 0.0044 0.0031 0.0001 0.0042 0.0066 0.0056 0.0019 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.983 . . exonic exonic exonic . . 0.017 0.0004 . . . 0.16 0.52 182 ENSG00000185522 C11orf35 LMNTD2 . . . 1.000 0.747 . 389 0.00598683 64976 386 0.00643483 59986 Uncertain_significance . 0 . 0.051 . . . . D 0.793 0.114 . . 37 . 0.899 . . 0.833 . . . 0.112 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 1 0.086 . . . . . 0.002 . 0.086 . HET 0.18 rs199751579 . . . . . . . 0.005494505494505495 0.0 0.0027624309392265192 0.008741258741258742 0.0079155672823219 0.2779 0.001072 ENST00000329451 4.VI -6.43 . 0.160000 Q8IXW0 . . . 0.003947 . 0.043 . . . 0.0013 0.0043 0.0031 0.0045 9.316e-05 0.0042 0.0064 0.0030 0.0018 0.0015 0.0044 0.0012 0 0 0.0064 0.0063 0.0051 . . 0.495 . -1.625 -1.625000 . . 0.160000 . . 1.0E-255 0.002 0.151 . 0.016 0.002 . 0.046 . 0.045 -1.625 -0.481 0.01 . . rs199751579 rs199751579 1 1538 10 1/0 0,255,255 +rs200922487 11 560710 A G - LMNTD2 28561 Lamin tail domain containing 2 NM_173573.2 -1 2098 1905 NP_775844.2 Q8IXW0 substitution missense exon GRCh37 560710 560710 Chr11(GRCh37):g.560710A>G 7 7 NM_173573.2:c.7T>C p.Trp3Arg p.Trp3Arg 1 -28 5' 77.9039 6.58677 0.863904 8.36611 77.9039 6.58677 0.863904 VIII.14 0 rs200922487 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000800 0.002000 0.000000 0.008000 0.001400 0.008587 0.002096 0.005283 0.031291 0.000000 0.004853 0.010763 0.005853 0.007410 0.031291 880 21 64 189 0 70 439 76 21 102484 10020 12114 6040 3282 14424 40786 12984 2834 0.000234 0.000000 0.000000 0.001656 0.000000 0.000000 0.000196 0.000308 0.000706 12 0 0 5 0 0 4 2 1 856 21 64 179 0 70 431 72 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7044 3474 10518 34 6 40 0.00480362 0.00172414 0.0037886 0.00480362 0.00172414 0.0037886 4 transition T C T>C 0.000 -1.247 W Trp TGG 1.000 R Arg CGG 0.207 3 12 2 Chimp -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 275.49 21.IV Tolerated 0.06 III.43 bad 6.783E-5 0.0103 255 PASS . . . . . 0.0008 0.0024 0.0014 . 0.008 0.002 ENSG00000185522:ENST00000329451:exon1:c.T7C:p.W3R C11orf35:uc001lpx.3:exon1:c.T7C:p.W3R LMNTD2:NM_173573:exon1:c.T7C:p.W3R . . 0.5217391 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.045 . . 69.0 . . . 0.0017 0.0038 0.0048 0.0017 0.0038 0.0048 . -1.6832 -1.799 -1.683 c . . . . . 3.908e-03 . . . 0.0050 0.0190 0.0426 0 0 0.0434 0.0179 0.0089 0.0059 0.0189 0.0357 0 0 0.0470 0.0192 0.0089 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.022 0.0024 . . . 0.38 0.34 182 ENSG00000185522 C11orf35 LMNTD2 . . . 1.000 0.747 . 778 0.0119737 64976 766 0.0127696 59986 Likely_benign . 0 . 0.015 . . . . . . . . . 37 . 0.288 . . 0.167 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.912 . . . . . 0.039 . 0.200 . HET 0 rs200922487 . . . . . . . . . . . . II.52 0.001336 ENST00000329451 II.84 -5.68 . 0.000000 Q8IXW0 . . . 0.003789 . 0.057 . . . 0.0030 0.0092 0.0049 0.0312 0 0.0053 0.0112 0.0086 0.0049 0.0020 0.0071 0.0108 0.0331 0 0.0075 0.0101 0.0051 . . 0.001 . -1.245 -1.245000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.010 . 0.016 -1.245 -0.062 0.0048 . . rs200922487 rs200922487 1 1538 10 1/0 0,255,255 +rs200922487 11 560710 A G - RASSF7 1166 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 NM_003475.3 1 1537 1122 NP_003466.1 Q02833 substitution upstream GRCh37 560710 560710 Chr11(GRCh37):g.560710A>G -775 -775 NM_003475.3:c.-775A>G p.? p.? 1 143023 -768 5' 90.6189 10.0684 0.989032 9.38701 90.6189 10.0684 0.989032 9.38701 0 rs200922487 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000800 0.002000 0.000000 0.008000 0.001400 0.008587 0.002096 0.005283 0.031291 0.000000 0.004853 0.010763 0.005853 0.007410 0.031291 880 21 64 189 0 70 439 76 21 102484 10020 12114 6040 3282 14424 40786 12984 2834 0.000234 0.000000 0.000000 0.001656 0.000000 0.000000 0.000196 0.000308 0.000706 12 0 0 5 0 0 4 2 1 856 21 64 179 0 70 431 72 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7044 3474 10518 34 6 40 0.00480362 0.00172414 0.0037886 0.00480362 0.00172414 0.0037886 4 transition A G A>G 0.000 -1.247 255 PASS . . . . . 0.0008 0.0024 0.0014 . 0.008 0.002 ENSG00000185522:ENST00000329451:exon1:c.T7C:p.W3R C11orf35:uc001lpx.3:exon1:c.T7C:p.W3R LMNTD2:NM_173573:exon1:c.T7C:p.W3R . . 0.5217391 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.045 . . 69.0 . . . 0.0017 0.0038 0.0048 0.0017 0.0038 0.0048 . -1.6832 -1.799 -1.683 c . . . . . 3.908e-03 . . . 0.0050 0.0190 0.0426 0 0 0.0434 0.0179 0.0089 0.0059 0.0189 0.0357 0 0 0.0470 0.0192 0.0089 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.022 0.0024 . . . 0.38 0.34 182 ENSG00000185522 C11orf35 LMNTD2 . . . 1.000 0.747 . 778 0.0119737 64976 766 0.0127696 59986 Likely_benign . 0 . 0.015 . . . . . . . . . 37 . 0.288 . . 0.167 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.912 . . . . . 0.039 . 0.200 . HET 0 rs200922487 . . . . . . . . . . . . II.52 0.001336 ENST00000329451 II.84 -5.68 . 0.000000 Q8IXW0 . . . 0.003789 . 0.057 . . . 0.0030 0.0092 0.0049 0.0312 0 0.0053 0.0112 0.0086 0.0049 0.0020 0.0071 0.0108 0.0331 0 0.0075 0.0101 0.0051 . . 0.001 . -1.245 -1.245000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.010 . 0.016 -1.245 -0.062 0.0048 . . rs200922487 rs200922487 1 1538 10 1/0 0,255,255 +rs144876874 11 884002 A G - CHID1 28474 Chitinase domain containing 1 NM_001142676.1 -1 3399 1257 NP_001136148.1 substitution intron GRCh37 884002 884002 Chr11(GRCh37):g.884002A>G 878+66 878+66 NM_001142676.1:c.878+66T>C p.? p.? 10 10 615692 66 5' 70.4593 7.67679 0.845453 8.91466 70.4593 7.67679 0.845453 8.80052 0 rs144876874 yes no Frequency/1000G 2 A 0.000000 0 0.003594 0.000000 0.001000 0.000000 0.009900 0.010100 0.007342 0.002063 0.008353 0.003311 0.000000 0.000000 0.012229 0.002862 0.008180 0.012229 227 18 7 1 0 0 183 10 8 30918 8724 838 302 1618 0 14964 3494 978 0.008811 0.000000 0.000000 0.000000 0.000000 0.000000 0.010929 0.000000 0.000000 2 0 0 0 0 0 2 0 0 223 18 7 1 0 0 179 10 8 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition T C T>C 0.000 -0.602 255 PASS . 0.0037 0.01 . 0.01 . 0.0036 0.01 . 0.0099 0.001 . . . . . 0.4852941 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.0729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.28 0.02 182 ENSG00000177830 CHID1 CHID1 . . . . . . 489 0.00752586 64976 471 0.00785183 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144876874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0073 0.0084 0.0033 0 0.0029 0.0122 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144876874 rs144876874 1 1538 10 1/0 0,255,255 +. 11 903860 T G - CHID1 28474 Chitinase domain containing 1 NM_001142676.1 -1 3399 1257 NP_001136148.1 substitution intron GRCh37 903860 903860 Chr11(GRCh37):g.903860T>G 112-82 112-82 NM_001142676.1:c.112-82A>C p.? p.? 3 2 615692 -82 3' 89.178 6.70853 0.966226 10.0801 89.178 6.70853 0.966226 10.212 0 903860 -69.5829 0.000041 0.000137 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000137 1 1 0 0 0 0 0 0 0 24688 7318 554 250 1464 0 12278 2094 730 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transversion A C A>C 0.244 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.7470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000177830 CHID1 CHID1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.051e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs115593063 11 1016581 T C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016581 1016581 Chr11(GRCh37):g.1016581T>C 6220 6220 NM_005961.2:c.6220A>G p.Thr2074Ala p.Thr2074Ala 31 158374 -820 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs115593063 yes no Frequency 1 T 0.000000 0 0.000102 0.000000 0.000000 0.000000 0.000000 0.004902 0.000000 0.000000 0.000000 0.004902 1 0 0 0 0 1 0 0 0 9834 520 344 434 34 204 7838 278 182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4145020 Thyroid 0.001339 747 transition A G A>G 0.000 -1.005 T Thr ACC 0.361 A Ala GCC 0.403 2074 11 2 Rat 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.53 IV.32 unknown 0.0 0.0 244 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.A6220G:p.T2074A MUC6:uc001lsw.2:exon31:c.A6220G:p.T2074A MUC6:NM_005961:exon31:c.A6220G:p.T2074A . . 0.30627307 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.069 . . 271.0 . . . . . . . . . . -1.9033 -1.943 -1.903 c . . . . . 1.833e-04 . . . 0.0035 0.0020 0 0.0064 0 0.0012 0 0.0066 0 0.0013 0 0.0045 0 0.0008 0 0.0067 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.204 . . exonic exonic exonic . . 0.031 @ . . . 0.37 0.43 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . . . . . . T 0.052 0.003 . . 37 . 0.050 . . 0.387 . . . 0.017 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.318 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.121 . . . . . 0.133 . 0.019 . HET 0.22 rs115593063 . . . . . . . . . . . . IV.93 0.025557 ENST00000421673 II.46 -4.6 . 0.590000 Q6W4X9 . . . . . 0.041 . . . 0 0.0002 0 0 0 0 0 0 0.0049 0 0 0 0 0 0 0 0 . . 0.056 . -1.148 -1.148000 . . 0.590000 . . 1.0000000000000001E-244 0.000 0.063 . 0.016 0.000 . 0.006 . 0.006 -1.148 -1.458 . . . rs115593063 rs115593063 1 1538 10 1/0 0,200,233 +. 11 1016593 C T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016593 1016593 Chr11(GRCh37):g.1016593C>T 6208 6208 NM_005961.2:c.6208G>A p.Gly2070Arg p.Gly2070Arg 31 158374 -832 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 Cryptic Donor Strongly Activated 1016596 0.009184 59.1778 1.81361 0.047939 63.5402 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 244046 15272 33292 9822 17248 30718 110128 22132 5434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 445 Exomes COSM4554414 Skin 0.000812 1232 transition G A G>A 0.000 -0.117 G Gly GGG 0.250 R Arg AGG 0.207 2070 11 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 122 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G6208A:p.G2070R MUC6:uc001lsw.2:exon31:c.G6208A:p.G2070R MUC6:NM_005961:exon31:c.G6208A:p.G2070R . . 0.101809956 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.393 . @ . . . . . 1 0.516 . . 442.0 . . . . . . . . . . -1.1393 -1.239 -1.139 c . . . . . 7.926e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.193 . . exonic exonic exonic . . 0.122 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.088 0.004 . . 37 . 0.154 . . 0.378 . . . 0.488 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.307 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 2 0.784 . . . . . 0.186 . 0.049 . LowAF 0.01 . . . . . . . . . . . . . V.75 . ENST00000421673 II.46 -0.289 . 0.550000 Q6W4X9 . . . . . 0.110 . . . 0 4.098e-06 0 0 0 0 0 0 3.255e-05 . . . . . . . . . . 0.056 . -0.043 -0.043000 . . 0.550000 . . 1.0E-122 0.000 0.063 . 0.016 0.001 . 0.082 . 0.046 -0.043 0.791 . . . . . 1 1538 10 1/0 0,164,255 +rs148590913 11 1016604 A G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016604 1016604 Chr11(GRCh37):g.1016604A>G 6197 6197 NM_005961.2:c.6197T>C p.Val2066Ala p.Val2066Ala 31 158374 -843 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs148590913 yes no Frequency 1 A 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000167 0.000022 0.000000 0.000000 0.000167 2 0 0 0 0 1 1 0 0 83786 5506 11990 3292 3468 5982 46492 5306 1750 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145026|COSM4145026|COSM4145026 Upper aerodigestive tract|Thyroid|Large intestine 0.012058|0.001339|0.000450 1244|747|2220 transition T C T>C 0.000 -3.346 V Val GTG 0.468 A Ala GCG 0.107 2066 11 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 150 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T6197C:p.V2066A MUC6:uc001lsw.2:exon31:c.T6197C:p.V2066A MUC6:NM_005961:exon31:c.T6197C:p.V2066A . . 0.15068494 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.010 . . 438.0 . . . . . . . . . . -2.3451 -2.395 -2.345 c . . . . . 9.673e-04 . . . 0.0011 0.0016 0.0010 0.0009 0.0005 0.0018 0 0.0029 0.0008 0.0014 0.0009 0.0008 0.0003 0.0015 0 0.0029 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.178 . . exonic exonic exonic . . 0.043 @ . . . 0.43 0.42 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.034 0.002 . . 37 . 0.045 . . 0.160 . . . 0.094 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.047 . . . . . 0.211 . 0.012 . HET 0.65 rs148590913 . . . . . . . . . . . . VI.76 . ENST00000421673 I.77 -3.55 . 1.000000 Q6W4X9 . . . . . 0.015 . . . 0 1.28e-05 0 0 0 0 0 0 0.0002 0 0.0002 0 0 0 0 0.0002 0 . . 0.000 . -3.678 -3.678000 . . 1.000000 . . 1.0E-150 0.000 0.063 . 0.016 0.000 . 0.028 . 0.001 -3.678 -1.613 . . . rs148590913 rs148590913 1 1538 10 1/0 0,169,248 +rs147913342 11 1016605 C G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016605 1016605 Chr11(GRCh37):g.1016605C>G 6196 6196 NM_005961.2:c.6196G>C p.Val2066Leu p.Val2066Leu 31 158374 -844 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 Cryptic Acceptor Strongly Activated 1016594 4,00E-06 1.14121 1.9e-05 64.6357 rs147913342 yes no Frequency/1000G 2 C 0.000000 0 0.000057 0.000000 0.000000 0.000000 0.000446 0.000223 0.000051 0.000000 0.000000 0.000446 4 0 0 0 1 1 2 0 0 69590 4058 10980 2896 2244 4484 39208 4126 1594 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 1 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3931184|COSM3931184 Urinary tract|Upper aerodigestive tract 0.001488|0.012058 672|1244 transversion G C G>C 0.000 -0.682 V Val GTG 0.468 L Leu CTG 0.404 2066 11 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.82 IV.32 unknown 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G6196C:p.V2066L MUC6:uc001lsw.2:exon31:c.G6196C:p.V2066L MUC6:NM_005961:exon31:c.G6196C:p.V2066L . . 0.10526316 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.040 . @ . . . . . 1 0.032 . . 456.0 . . . . . . . . . . -1.4187 -1.525 -1.419 c . . . . . 8.324e-04 . . . 0.0007 0.0017 0.0013 0.0015 0 0.0017 0 0.0037 0.0008 0.0015 0.0012 0.0011 0 0.0015 0 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.179 . . exonic exonic exonic . . 0.043 @ . . . 0.39 0.42 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.062 . . 0.346 . . . 0.281 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 0 0 . 0.167 . . 0.121 . . . . . . 2 0.163 . . . . . 0.005 . 0.036 . LowAF 0.49 rs147913342 . . . . . . . . . . . . 0.4927 . ENST00000421673 I.77 -3.55 . 0.260000 Q6W4X9 . . . . . 0.080 . . . 0 1.567e-05 0 0 0 0 0 0 0.0002 0 0.0005 0 0 0.0238 0 0.0004 0 . . 0.000 . -0.860 -0.860000 . . 0.260000 . . 1.0E-176 0.000 0.063 . 0.016 0.000 . 0.056 . 0.090 -0.860 -0.615 . . . rs147913342 rs147913342 1 1538 10 1/0 0,161,255 +rs749819621 11 1016833 G T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1016833 1016833 Chr11(GRCh37):g.1016833G>T 5968 5968 NM_005961.2:c.5968C>A p.Gln1990Lys p.Gln1990Lys 31 158374 -1072 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs749819621 yes no Frequency 1 G 0.000000 0 0.000146 0.001225 0.000059 0.000000 0.000056 0.000000 0.000075 0.000165 0.000000 0.001225 38 22 2 0 1 0 9 4 0 261144 17952 33920 10116 17754 30782 120384 24298 5938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 22 2 0 1 0 9 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4183365 Large intestine 0.000450 2220 transversion C A C>A 0.000 -1.005 Q Gln CAG 0.744 K Lys AAG 0.575 1990 11 2 Mouse 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 353.86 0.00 Tolerated 0.82 IV.32 unknown 0.0 0.0 176 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5968A:p.Q1990K MUC6:uc001lsw.2:exon31:c.C5968A:p.Q1990K MUC6:NM_005961:exon31:c.C5968A:p.Q1990K . . 0.10494403 . . @ 225 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.058 . . 2144.0 . . . . . . . . . . -1.7047 -1.753 -1.705 c . . . . . 6.531e-03 . . . 0.0054 0.0060 0.0137 0.0041 0.0060 0.0057 0.0070 0.0025 0.0061 0.0070 0.0140 0.0055 0.0059 0.0074 0.0072 0.0026 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.196 . . exonic exonic exonic . . 0.033 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.072 . . 0.361 . . . 0.082 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.114 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.410 . . . . . 0.235 . 0.052 . LowAF 0.02 rs71472140 . . . . . . . . . . . . VI.73 0.00321 ENST00000421673 II.97 -4.45 . 0.230000 Q6W4X9 . . . . . 0.048 . . . 0 0 0 0 0 0 0 0 0 0.0083 0.0026 0.0058 0 0.0020 0.0020 0.0010 0 . . 0.820 . -0.632 -0.632000 . . 0.230000 . . 1.0E-176 0.000 0.063 . 0.043 0.001 . 0.029 . 0.010 -0.632 0.015 . rs10751676 . . . 1 1538 10 1/0 0,94,205 +rs75538227 11 1017036 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017036 1017036 Chr11(GRCh37):g.1017036G>A 5765 5765 NM_005961.2:c.5765C>T p.Thr1922Ile p.Thr1922Ile 31 158374 -1275 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs75538227 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57596 2100 8478 3186 1236 6124 29202 5852 1418 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 3794 Exomes COSM4145046|COSM4145046|COSM4145046 Upper aerodigestive tract|Thyroid|Large intestine 0.016077|0.004016|0.000901 1244|747|2220 transition C T C>T 0.000 0.367 T Thr ACT 0.243 I Ile ATT 0.356 1922 11 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 193 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5765T:p.T1922I MUC6:uc001lsw.2:exon31:c.C5765T:p.T1922I MUC6:NM_005961:exon31:c.C5765T:p.T1922I . . 0.14114833 . . @ 177 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.307 . @ . . . . . 1 0.495 . . 1254.0 . . . . . . . . . . -1.0979 -1.178 -1.098 c . . . . . 3.953e-05 . . . 0 2.008e-05 0 0 0 4.303e-05 0 0 0 1.635e-05 0 0 0 3.102e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.255 . . exonic exonic exonic . . 0.116 @ . . . 0.39 0.45 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.301 0.012 . . 37 . 0.142 . . 0.264 . . . 0.404 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.316 . . 0 0 0 0 0 0 . 0.230 . . 0.218 . . . . . . 2 0.632 . . . . . 0.066 . 0.078 . LowAF 0.03 rs75538227 0.217 0.174 . . . . . . . . . . III.73 . ENST00000421673 3.II -0.441 . 0.090000 Q6W4X9 . . . . . 0.105 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.553 . -0.211 -0.211000 . . 0.090000 . . 1.0E-193 0.000 0.063 . 0.043 0.039 . 0.088 . 0.324 -0.211 -0.607 0.22 . . rs75538227 rs75538227 1 1538 10 1/0 0,120,224 +rs75482640 11 1017041 G T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution stop gain exon GRCh37 1017041 1017041 Chr11(GRCh37):g.1017041G>T 5760 5760 NM_005961.2:c.5760C>A p.Tyr1920* p.Tyr1920* 31 158374 -1280 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs75482640 yes no Frequency 1 G 0.000000 0 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000171 0.000000 0.000171 1 0 0 0 0 0 0 1 0 60088 8468 4466 1992 5022 4354 28442 5852 1492 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3931190|COSM3931190|COSM3931190 Urinary tract|Upper aerodigestive tract|Thyroid 0.002976|0.016077|0.004016 672|1244|747 transversion C A C>A 0.000 -1.086 Y Tyr TAC 0.562 * * TAA 0.277 1920 225 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5760A:p.Y1920X MUC6:uc001lsw.2:exon31:c.C5760A:p.Y1920X MUC6:NM_005961:exon31:c.C5760A:p.Y1920X . . 0.22485207 . . @ 266 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.940 . @ . . . . . 0 0.176 . . 1183.0 . . . . . . . . . . -0.7139 -1.163 -0.714 c . . . . . 1.845e-04 . . . 0 0.0002 0 0.0004 0.0009 0.0004 0 0 0 0.0002 0 0.0002 0.0006 0.0002 0.0028 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.020 @ . . . 0.39 0.45 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.050 . . . HET 0.28 rs75482640 . . . . . . . . . . . . II.68 . ENST00000421673 3.II -6.04 . 1.000000 . . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 0 4.475e-05 0 0 0 0.0005 0 0 . . 0.553 . -1.057 -1.057000 . . 1.000000 . . 1.0E-225 0.000 0.063 . 0.043 0.020 . 0.004 . 0.107 -1.057 -1.479 . . . rs75482640 rs75482640 1 1538 10 1/0 0,131,204 +rs80049949 11 1017042 T G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017042 1017042 Chr11(GRCh37):g.1017042T>G 5759 5759 NM_005961.2:c.5759A>C p.Tyr1920Ser p.Tyr1920Ser 31 158374 -1281 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs80049949 yes no Frequency 1 T 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000183 0.000000 0.000183 1 0 0 0 0 0 0 1 0 54598 7490 4070 1834 4730 4068 25570 5474 1362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3931192|COSM3931192|COSM3931192 Urinary tract|Upper aerodigestive tract|Thyroid 0.008929|0.016077|0.004016 672|1244|747 transversion A C A>C 0.000 0.205 Y Tyr TAC 0.562 S Ser TCC 0.220 1920 11 1 -2 -2 -3 0.2 I.42 6.II 9.II 136 32 144 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 234 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.A5759C:p.Y1920S MUC6:uc001lsw.2:exon31:c.A5759C:p.Y1920S MUC6:NM_005961:exon31:c.A5759C:p.Y1920S . . 0.25413403 . . @ 292 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.038 . . 1149.0 . . . . . . . . . . -1.5437 -1.459 -1.544 c . . . . . 1.845e-04 . . . 0 0.0003 0 0.0004 0.0010 0.0004 0 0 0 0.0002 0 0.0003 0.0006 0.0002 0.0029 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.150 . . exonic exonic exonic . . 0.193 @ . . . 0.4 0.49 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.355 0.015 . . 37 . 0.028 . . 0.420 . . . 0.001 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.056 . 0.055 . HET 0.75 rs80049949 . . . . . . . . . . . . II.84 . ENST00000421673 3.II 1.VI . 0.620000 Q6W4X9 . . . . . 0.009 . . . 0 0 0 0 0 0 0 0 0 0 4.971e-05 0 0 0 0.0005 0 0 . . 0.553 . 0.128 0.128000 . . 0.620000 . . 1.0E-234 0.000 0.063 . 0.043 0.002 . 0.062 . 0.105 0.128 -0.532 . . . rs80049949 rs80049949 1 1538 10 1/0 0,135,204 +rs74990443 11 1017088 A C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017088 1017088 Chr11(GRCh37):g.1017088A>C 5713 5713 NM_005961.2:c.5713T>G p.Ser1905Ala p.Ser1905Ala 31 158374 -1327 5' 91.0858 X.17 0.994781 XI.99 91.0858 X.17 0.994781 XI.99 0 rs74990443 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 225800 12284 30944 9252 13616 28794 104218 21812 4880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 944 Exomes COSM4145052|COSM4145052 Upper aerodigestive tract|Thyroid 0.003215|0.006693 1244|747 transversion T G T>G 0.000 -2.297 S Ser TCC 0.220 A Ala GCC 0.403 1905 11 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.06 IV.32 unknown 0.0 0.0 195 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T5713G:p.S1905A MUC6:uc001lsw.2:exon31:c.T5713G:p.S1905A MUC6:NM_005961:exon31:c.T5713G:p.S1905A . . 0.14520098 . . @ 177 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.049 . . 1219.0 . . . . . . . . . . -2.0533 -2.089 -2.053 c . . . . . 2.689e-03 . . . 0.0077 0.0034 0.0017 0.0055 0.0008 0.0036 0.0028 0.0015 0.0054 0.0013 0.0015 0.0024 0.0005 0.0006 0.0014 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.020 @ . . . 0.42 0.42 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . . . . . . T 0.093 0.004 . . 37 . 0.027 . . 0.232 . . . 0.003 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.227 . . 0.301 . . . . . . 2 0.051 . . . . . 0.015 . 0.011 . LowAF 0.03 rs74990443 . . . . . . . . . . . . 1.0607 . ENST00000421673 3.I -6.01 . 0.810000 Q6W4X9 . . . . . 0.030 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.553 . -2.137 -2.137000 . . 0.810000 . . 9.999999999999999E-196 0.000 0.063 . 0.016 0.001 . 0.003 . 0.002 -2.137 -1.158 . . . rs74990443 rs74990443 1 1538 10 1/0 0,122,227 +rs77815355 11 1017556 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017556 1017556 Chr11(GRCh37):g.1017556G>A 5245 5245 NM_005961.2:c.5245C>T p.Leu1749= p.Leu1749Leu 31 158374 1215 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs77815355 yes no Frequency 1 0.000000 0 0.000267 0.001354 0.000090 0.000000 0.000000 0.000000 0.000283 0.000408 0.000180 0.001354 67 21 3 0 0 0 33 9 1 250990 15510 33392 10048 17206 30742 116454 22072 5566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 21 3 0 0 0 33 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4183425 Large intestine 0.001351 2220 transition C T C>T 0.000 1.577 L Leu CTA 0.070 L Leu TTA 0.073 1749 222 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5245T:p.L1749L MUC6:uc001lsw.2:exon31:c.C5245T:p.L1749L MUC6:NM_005961:exon31:c.C5245T:p.L1749L . . 0.21646623 . . @ 234 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1081.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|L1749|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.8204 . . . . . . . . 5.725e-04 . . . 0.0004 0.0004 0.0003 0.0005 0.0005 0.0005 0.0030 0.0001 0.0005 0.0005 0.0002 0.0005 0.0005 0.0006 0.0045 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.47 182 ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77815355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0559 0.0093 0.0349 0 0 0.18 0.0053 0.0067 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs77815355 rs77815355 1 1538 10 1/0 0,134,209 +rs796934918 11 1017573 G C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017573 1017573 Chr11(GRCh37):g.1017573G>C 5228 5228 NM_005961.2:c.5228C>G p.Ala1743Gly p.Ala1743Gly 31 158374 1198 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs796934918 no no 0 0.000000 0 0.000159 0.000716 0.000059 0.000000 0.000000 0.000000 0.000151 0.000310 0.000175 0.000716 41 13 2 0 0 0 18 7 1 257730 18150 33684 10098 17610 30764 119140 22562 5722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 13 2 0 0 0 18 7 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4590918|COSM4590918 Upper aerodigestive tract|Large intestine 0.007235|0.000450 1244|2220 transversion C G C>G 0.000 0.286 A Ala GCC 0.403 G Gly GGC 0.342 1743 11 3 Macaque 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.65 III.81 unknown 0.0 0.0 197 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5228G:p.A1743G MUC6:uc001lsw.2:exon31:c.C5228G:p.A1743G MUC6:NM_005961:exon31:c.C5228G:p.A1743G . . 0.15075922 . . @ 139 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.041 . . 922.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A1743G|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -0.6293 -0.877 -0.629 c . . . . . . . . . 0 6.809e-05 0 0.0002 0 0.0001 0 0 0 9.669e-05 0 0.0003 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.134 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.238 . . 0.213 . . . 0.360 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.117 . . 0 0 0 0 0 0 . 0.541 . . 0.553 . . . . . . 0 0.433 . . . . . 0.187 . 0.061 . HET 0.25 . . . . . . . . . . . . . 6.0227 . ENST00000421673 2.I 0.0305 . 0.580000 Q6W4X9 . . . . . 0.109 . . . 0 0 0 0 0 0 0 0 0 0.0045 0.0035 0.0120 0 0 0.0208 0.0024 0.0039 . . 0.000 . 0.013 0.013000 . . 0.580000 . . 1.0E-197 0.000 0.063 . 0.043 0.001 . 0.143 . 0.283 0.013 -0.083 . . . . . 1 1538 10 1/0 0,135,236 +rs76886285 11 1017581 A G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017581 1017581 Chr11(GRCh37):g.1017581A>G 5220 5220 NM_005961.2:c.5220T>C p.Phe1740= p.Phe1740Phe 31 158374 1190 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs76886285 yes no Frequency 1 0.000000 0 0.000130 0.001080 0.000066 0.000000 0.000000 0.000000 0.000068 0.000150 0.000000 0.001080 19 11 1 0 0 0 5 2 0 146440 10188 15098 4546 11782 14502 73808 13376 3140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 11 1 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145080|COSM4145080 Thyroid|Stomach 0.001339|0.001138 747|879 transition T C T>C 0.000 0.448 F Phe TTT 0.454 F Phe TTC 0.546 1740 213 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T5220C:p.F1740F MUC6:uc001lsw.2:exon31:c.T5220C:p.F1740F MUC6:NM_005961:exon31:c.T5220C:p.F1740F . . 0.1911589 . . @ 160 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 837.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F1740|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.6918 . . . . . . . . 9.927e-03 . . . 0.0108 0.0155 0.0079 0.0025 0.0020 0.0089 0.0233 0.0499 0.0114 0.0137 0.0081 0.0032 0.0022 0.0074 0.0262 0.0502 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.49 182 ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76886285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.197e-06 0 0 0 0 0 0 0 0.0151 0.0024 0.0147 0 0 0.0132 0.0008 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs76886285 rs76886285 1 1538 10 1/0 0,143,230 +rs200995870 11 1017591 C G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017591 1017591 Chr11(GRCh37):g.1017591C>G 5210 5210 NM_005961.2:c.5210G>C p.Arg1737Pro p.Arg1737Pro 31 158374 1180 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs200995870 yes no Frequency 1 0.000000 0 0.000135 0.000626 0.000000 0.000000 0.000000 0.000216 0.000113 0.000121 0.000285 0.000626 22 6 0 0 0 4 9 2 1 163412 9584 20622 6602 8344 18494 79778 16478 3510 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 4 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145082|COSM4145082|COSM4145082 Upper aerodigestive tract|Thyroid|Large intestine 0.004823|0.004016|0.001802 1244|747|2220 transversion G C G>C 0.000 -4.314 R Arg CGA 0.110 P Pro CCA 0.274 1737 11 1 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 197 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G5210C:p.R1737P MUC6:uc001lsw.2:exon31:c.G5210C:p.R1737P MUC6:NM_005961:exon31:c.G5210C:p.R1737P . . 0.27004218 . . @ 192 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.020 . . 711.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R1737P|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -2.9907 -3.052 -2.991 c . . . . . 2.127e-04 . . . 0.0003 0.0003 0.0002 0 0.0004 0.0002 0 0.0005 0.0002 0.0002 0.0003 0.0002 0.0002 0.0002 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.184 . . exonic exonic exonic . . 0.036 @ . . . 0.47 0.46 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.054 . . 0.223 . . . 0.010 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . 0.165 . . 0.040 . . . . . . 0 0.243 . . . . . 0.011 . 0.055 . HET 0.26 rs200995870 . . . . . . . . . . . . 0.8772 . ENST00000421673 2.VII -4.14 . 0.310000 Q6W4X9 . . . . . 0.020 . . . 0.0001 4.502e-05 0 0 0 0 2.709e-05 0 0.0002 0.0038 0.0019 0 0 0 0.0179 0.0012 0.0058 . . 0.002 . -5.372 -5.372000 . . 0.310000 . . 1.0E-197 0.000 0.063 . 0.016 0.000 . 0.007 . 0.001 -5.372 -3.706 . . . . . 1 1538 14 1/0 0,160,225 +rs773903463 11 1017592 G C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017592 1017592 Chr11(GRCh37):g.1017592G>C 5209 5209 NM_005961.2:c.5209C>G p.Arg1737Gly p.Arg1737Gly 31 158374 1179 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs773903463 yes no Frequency 1 0.000000 0 0.001011 0.002494 0.000000 0.000000 0.000000 0.000000 0.000775 0.011905 0.000000 0.011905 8 2 0 0 0 0 5 1 0 7916 802 86 256 56 0 6454 84 178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 2 0 0 0 0 5 1 0 0 0 0 0 0 0 0 0 0 RF 569 Genomes COSM4596681|COSM4596681|COSM4596681 Upper aerodigestive tract|Large intestine|Central nervous system 0.003215|0.000450|0.000420 1244|2220|2383 transversion C G C>G 0.000 0.448 R Arg CGA 0.110 G Gly GGA 0.246 1737 11 1 -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 158 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5209G:p.R1737G MUC6:uc001lsw.2:exon31:c.C5209G:p.R1737G MUC6:NM_005961:exon31:c.C5209G:p.R1737G . . 0.16503496 . . @ 118 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.186 . @ . . . . . 1 0.037 . . 715.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R1737G|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -1.0403 -1.079 -1.040 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.187 . . exonic exonic exonic . . 0.259 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.092 . . 0.279 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.063 . . 0 0 0 0 0 0 . 0.275 . . 0.205 . . . . . . 0 0.299 . . . . . 0.182 . 0.032 . HET 0.36 . . . . . . . . . . . . . V.33 . ENST00000421673 2.VII 2.VII . 0.360000 Q6W4X9 . . . . . 0.125 . . 2.VII . . . . . . . . . 0.0025 0.0010 0 0 0 0.0119 0.0008 0 . . 0.002 . 1.477 1.477000 . . 0.360000 . . 1.0E-158 0.000 0.063 . 0.016 0.001 . 0.167 . 0.093 1.477 0.868 . . . . . 1 1538 14 1/0 0,150,244 +rs111641154 11 1017595 A C - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017595 1017595 Chr11(GRCh37):g.1017595A>C 5206 5206 NM_005961.2:c.5206T>G p.Ser1736Ala p.Ser1736Ala 31 158374 1176 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs111641154 yes no Frequency 1 0.000000 0 0.000013 0.000138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000138 3 2 0 0 0 0 0 1 0 239676 14502 30936 9684 16110 29492 112342 21360 5250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3734109|COSM3734109|COSM3734109 Thyroid|Pancreas|Large intestine 0.002677|0.000576|0.000450 747|1736|2220 transversion T G T>G 0.000 -3.023 S Ser TCC 0.220 A Ala GCC 0.403 1736 11 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 0.06 IV.32 unknown 0.0 0.0 186 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T5206G:p.S1736A MUC6:uc001lsw.2:exon31:c.T5206G:p.S1736A MUC6:NM_005961:exon31:c.T5206G:p.S1736A . . 0.12573965 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.033 . . 676.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S1736A|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -2.1893 -2.259 -2.189 c . . . . . 3.852e-04 . . . 0.0003 0.0004 0.0002 0.0015 0.0008 0.0004 0 0.0003 0.0002 0.0004 0.0002 0.0012 0.0005 0.0003 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.204 . . exonic exonic exonic . . 0.036 @ . . . 0.52 0.48 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.044 . . 0.115 . . . 0.017 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.209 . . 0.212 . . . . . . 0 0.035 . . . . . 0.002 . 0.016 . LowAF 0.02 rs111641154 . . . . . . . . . . . . 0.2856 0.004597 ENST00000421673 2.VII -4.14 . 0.900000 Q6W4X9 . . . . . 0.022 . . . 0 0 0 0 0 0 0 0 0 0.0051 0.0004 0 0 0 0.0135 0 0 . . 0.002 . -3.541 -3.541000 . . 0.900000 . . 1.0E-186 0.000 0.063 . 0.016 0.000 . 0.002 . 0.003 -3.541 -2.132 . . . rs111641154 rs111641154 1 1538 10 1/0 0,146,255 +rs201198887 11 1017597 T G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017597 1017597 Chr11(GRCh37):g.1017597T>G 5204 5204 NM_005961.2:c.5204A>C p.Gln1735Pro p.Gln1735Pro 31 158374 1174 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs201198887 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000176 0.000000 1 0 0 0 0 0 0 0 1 254856 16712 33622 10084 17376 30764 118298 22334 5666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4596516|COSM4596516 Upper aerodigestive tract|Large intestine 0.003215|0.000450 1244|2220 transversion A C A>C 0.000 -0.602 Q Gln CAA 0.256 P Pro CCA 0.274 1735 11 3 Mouse -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 200 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.A5204C:p.Q1735P MUC6:uc001lsw.2:exon31:c.A5204C:p.Q1735P MUC6:NM_005961:exon31:c.A5204C:p.Q1735P . . 0.15873016 . . @ 110 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.062 . @ . . . . . 1 0.031 . . 693.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cCa|Q1735P|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -0.7551 -1.083 -0.755 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.208 . . exonic exonic exonic . . 0.036 @ . . . 0.5 0.5 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.301 . . 0.155 . . . 0.498 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.592 . . 0.610 . . . . . . 0 0.144 . . . . . 0.434 . 0.078 . HET 0.22 rs201198887 . . . . . . . . . . . . X.57 . ENST00000421673 2.VII -4.14 . 0.340000 Q6W4X9 . . . . . 0.073 . . . 0 0 0 0 0 0 0 0 0 0 0.0001 0 0 0 0 0 0.0051 . . 0.002 . -1.292 -1.292000 . . 0.340000 . . 1.0E-200 0.000 0.063 . 0.095 0.007 . 0.044 . 0.273 -1.292 0.846 . . . rs201198887 rs201198887 1 1538 10 1/0 0,148,245 +rs202206004 11 1017623 C G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017623 1017623 Chr11(GRCh37):g.1017623C>G 5178 5178 NM_005961.2:c.5178G>C p.Met1726Ile p.Met1726Ile 31 158374 1148 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 Cryptic Acceptor Strongly Activated 1017618 0.000832 65.6815 0.348854 0.005517 68.6272 rs202206004 yes no Frequency/1000G 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 207078 13434 26188 7236 16084 24398 96376 18960 4402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 761 Exomes COSM5765226 Large intestine 0.000450 2220 transversion G C G>C 0.000 -0.924 M Met ATG 1.000 I Ile ATC 0.481 1726 11 1 2 1 2 0 0 5.VII 5.II 105 111 10 C0 353.86 0.00 Tolerated 0.28 IV.32 unknown 0.0 0.0 177 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G5178C:p.M1726I MUC6:uc001lsw.2:exon31:c.G5178C:p.M1726I MUC6:NM_005961:exon31:c.G5178C:p.M1726I . . 0.14354838 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.048 . . 620.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M1726I|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -1.7835 -1.831 -1.783 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.165 . . exonic exonic exonic . . 0.072 0.0004 . . . 0.49 0.47 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.028 0.002 . . 37 . 0.052 . . 0.443 . . . 0.027 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.069 . . 0 0 0 0 0 0 . 0.209 . . 0.234 . . . . . . 0 0.119 . . . . . 0.385 . 0.034 . LowAF 0.25 . . . . . . . . . . . . . IX.19 . ENST00000421673 0.956 -1.91 . 0.410000 Q6W4X9 . . . . . 0.029 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.003 . -0.792 -0.792000 . . 0.410000 . . 1.0E-177 0.000 0.063 . 0.043 0.005 . 0.028 . 0.058 -0.792 0.356 . . . . . 1 1538 10 1/0 0,152,252 +rs796974437 11 1017639 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017639 1017639 Chr11(GRCh37):g.1017639G>A 5162 5162 NM_005961.2:c.5162C>T p.Thr1721Ile p.Thr1721Ile 31 158374 1132 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 0.000126 0.000436 0.000030 0.000000 0.000173 0.000000 0.000085 0.000399 0.000352 0.000436 32 7 1 0 3 0 10 9 2 254402 16044 33670 10102 17356 30780 118222 22554 5674 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 7 1 0 3 0 10 9 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.135 T Thr ACA 0.280 I Ile ATA 0.163 1721 11 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.06 IV.32 unknown 0.0 0.0 173 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5162T:p.T1721I MUC6:uc001lsw.2:exon31:c.C5162T:p.T1721I MUC6:NM_005961:exon31:c.C5162T:p.T1721I . . 0.10486891 . . @ 84 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.061 . . 801.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T1721I|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -1.5404 -1.704 -1.540 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.241 . . exonic exonic exonic . . 0.088 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.197 . . 0.335 . . . 0.592 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.183 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 0.506 . . . . . 0.003 . 0.030 . LowAF 0 . . . . . . . . . . . . . 0.3669 . ENST00000421673 0.628 -1.26 . 0.170000 Q6W4X9 . . . . . 0.035 . . . 0 0 0 0 0 0 0 0 0 0.0094 0.0039 0.0109 0 0.0278 0.0346 0.0015 0.0101 . . 0.000 . -1.877 -1.877000 . . 0.170000 . . 1.0E-173 0.000 0.063 . 0.074 0.002 . 0.017 . 0.043 -1.877 -0.093 . . . . . 1 1538 10 1/0 0,137,251 +rs111294390 11 1017679 A G - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017679 1017679 Chr11(GRCh37):g.1017679A>G 5122 5122 NM_005961.2:c.5122T>C p.Ser1708Pro p.Ser1708Pro 31 158374 1092 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs111294390 yes no Frequency 1 G 0.000000 0 0.000069 0.000329 0.000000 0.000000 0.000120 0.000000 0.000043 0.000180 0.000185 0.000329 17 5 0 0 2 0 5 4 1 247334 15200 31682 10070 16734 29910 116130 22216 5392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 5 0 0 2 0 5 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4591856|COSM4591856 Upper aerodigestive tract|Large intestine 0.017685|0.001351 1244|2220 transition T C T>C 0.000 -3.911 S Ser TCA 0.148 P Pro CCA 0.274 1708 11 2 Rat -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.37 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.T5122C:p.S1708P MUC6:uc001lsw.2:exon31:c.T5122C:p.S1708P MUC6:NM_005961:exon31:c.T5122C:p.S1708P . . 0.34843907 . . @ 346 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.046 . . 993.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Cca|S1708P|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -1.9938 -2.080 -1.994 c . . . . . 1.028e-04 . . . 0.0003 0.0001 0 0 0 0.0002 0 6.098e-05 0.0002 7.727e-05 0 0 0 9.4e-05 0 6.131e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.243 . . exonic exonic exonic . . 0.044 @ . . . 0.48 0.49 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.070 . . 0.138 . . . 0.018 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.082 . . . . . 0.005 . 0.031 . HET 0.13 rs111294390 . . . . . . . . . . . . 0.4744 0.003214 ENST00000421673 I.74 -3.47 . 0.280000 Q6W4X9 . . . . . 0.014 . . . 0 4.16e-06 0 0 0 0 9.101e-06 0 0 0.0275 0.0023 0 0 0.1 0.1111 0.0006 0.0070 . . 0.000 . -4.140 -4.140000 . . 0.280000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.024 . 0.002 -4.140 -2.448 . . . rs111294390 rs111294390 1 1538 10 1/0 0,149,188 +rs112886536 11 1017684 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017684 1017684 Chr11(GRCh37):g.1017684G>A 5117 5117 NM_005961.2:c.5117C>T p.Ala1706Val p.Ala1706Val 31 158374 1087 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs112886536 yes no Frequency 1 A 0.000000 0 0.000064 0.000327 0.000000 0.000000 0.000118 0.000000 0.000051 0.000090 0.000185 0.000327 16 5 0 0 2 0 6 2 1 248150 15298 31674 10076 16944 29770 116714 22274 5400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 5 0 0 2 0 6 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8559 4350 12909 13 52 65 0.00151657 0.0118128 0.00501002 0.00151657 0.0118128 0.00501002 677 COSM5446646 Large intestine 0.001351 2220 transition C T C>T 0.000 0.205 A Ala GCC 0.403 V Val GTC 0.240 1706 11 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.05 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5117T:p.A1706V MUC6:uc001lsw.2:exon31:c.C5117T:p.A1706V MUC6:NM_005961:exon31:c.C5117T:p.A1706V . . 0.3491062 . . @ 332 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.069 . @ . . . . . 1 0.021 . . 951.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A1706V|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) 0.012 0.005 0.0015 0.012 0.005 0.0015 . -1.5395 -1.618 -1.539 c . . . . . 1.107e-04 . . . 0.0003 0.0001 0 0 0 0.0002 0 6.097e-05 0.0002 8.657e-05 0 0 0 0.0001 0 6.13e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.196 . . exonic exonic exonic . . 0.057 @ . . . 0.41 0.51 182 ENSG00000184956 MUC6 MUC6 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.059 . . 0.304 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.098 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 0 0.039 . . . . . 0.082 . 0.006 . HET 0.07 rs112886536 . . . . . . . . . . . . III.45 0.013651 ENST00000421673 I.69 -2.64 . 0.220000 Q6W4X9 . . . 0.005010 . 0.108 . . . 0 4.147e-06 0 0 0 0 9.055e-06 0 0 0.0260 0.0021 0 0 0.125 0.0625 0.0008 0.0068 . . 0.000 . -0.637 -0.637000 . . 0.220000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.016 . 0.019 -0.637 -1.351 0.012 . . rs112886536 rs112886536 1 1538 10 1/0 0,150,187 +rs757015117 11 1017721 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017721 1017721 Chr11(GRCh37):g.1017721G>A 5080 5080 NM_005961.2:c.5080C>T p.Leu1694= p.Leu1694Leu 31 158374 1050 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs757015117 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 274424 23116 34270 10146 18754 30774 125456 25552 6356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5656054 Haematopoietic and lymphoid tissue 0.000275 3634 transition C T C>T 0.012 1.093 L Leu CTA 0.070 L Leu TTA 0.073 1694 160 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5080T:p.L1694L MUC6:uc001lsw.2:exon31:c.C5080T:p.L1694L MUC6:NM_005961:exon31:c.C5080T:p.L1694L . . 0.10214656 . . @ 138 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1351.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|L1694|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.7674 . . . . . . . . 8.696e-05 . . . 0 3.326e-05 0 0 0 7.132e-05 0 0 0 6.626e-05 0 0 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs757015117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-160 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,114,232 +rs376067175 11 1017755 C T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017755 1017755 Chr11(GRCh37):g.1017755C>T 5046 5046 NM_005961.2:c.5046G>A p.Leu1682= p.Leu1682Leu 31 158374 1016 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs376067175 yes no Frequency 1 C 0.000000 0 0.000283 0.000609 0.000033 0.000000 0.000061 0.000000 0.000392 0.000354 0.000763 0.000609 69 11 1 0 1 0 44 8 4 243782 18064 30422 9778 16452 28986 112222 22614 5244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 11 1 0 1 0 44 8 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5459567|COSM5459567 Large intestine|Central nervous system 0.000901|0.000420 2220|2383 transition G A G>A 0.000 -1.247 L Leu CTG 0.404 L Leu CTA 0.070 1682 106 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G5046A:p.L1682L MUC6:uc001lsw.2:exon31:c.G5046A:p.L1682L MUC6:NM_005961:exon31:c.G5046A:p.L1682L . . 0.12409928 . . @ 155 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1249.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L1682|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.3069 . . . . . . . . 3.635e-04 . . . 0.0004 0.0004 0.0003 0.0007 0.0003 0.0005 0 0.0002 0.0001 0.0001 0.0003 0.0003 0.0002 9.213e-05 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs751152042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0030 0.0052 0.0057 0 0.0018 0.0147 0.0056 0.0135 . . . . . . . . . . . 1.0E-106 . . . . . . . . . . . . . . . . 1 1538 13 1/0 0,125,225 +rs79198757 11 1017757 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017757 1017757 Chr11(GRCh37):g.1017757G>A 5044 5044 NM_005961.2:c.5044C>T p.Leu1682= p.Leu1682Leu 31 158374 1014 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs79198757 yes no Frequency 1 G 0.000000 0 0.000178 0.000548 0.000029 0.000000 0.000000 0.000000 0.000206 0.000292 0.000503 0.000548 47 11 1 0 0 0 25 7 3 264594 20088 33904 10124 18212 30782 121508 24010 5966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 11 1 0 0 0 25 7 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 L Leu CTG 0.404 L Leu TTG 0.127 1682 106 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5044T:p.L1682L MUC6:uc001lsw.2:exon31:c.C5044T:p.L1682L MUC6:NM_005961:exon31:c.C5044T:p.L1682L . . 0.11499611 . . @ 148 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1287.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1682|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.7331 . . . . . . . . 1.581e-04 . . . 9.942e-05 0.0001 0 0 0 0.0002 0 0.0001 0.0001 7.557e-05 0 0 0 9.202e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.46 182 ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs755230268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0023 0.0026 0.0030 0 0 0.0041 0.0025 0.0062 . . . . . . . . . . . 1.0E-106 . . . . . . . . . . . . . . rs79198757 rs79198757 1 1538 10 1/0 0,122,235 +rs75684592 11 1017782 C T - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution synonymous exon GRCh37 1017782 1017782 Chr11(GRCh37):g.1017782C>T 5019 5019 NM_005961.2:c.5019G>A p.Leu1673= p.Leu1673Leu 31 158374 989 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 rs75684592 yes no Frequency 1 C 0.000000 0 0.000091 0.000336 0.000030 0.000000 0.000000 0.000000 0.000100 0.000083 0.000335 0.000336 24 7 1 0 0 0 12 2 2 263758 20826 33692 10012 18174 30692 120432 23966 5964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 1 0 0 0 12 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.167 L Leu CTG 0.404 L Leu CTA 0.070 1673 180 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.G5019A:p.L1673L MUC6:uc001lsw.2:exon31:c.G5019A:p.L1673L MUC6:NM_005961:exon31:c.G5019A:p.L1673L . . 0.112436116 . . @ 132 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 1174.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L1673|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . 0.4283 . . . . . . . . . . . . 0 0.0002 0 0 0.0016 0.0001 0.0014 6.061e-05 0 0.0001 0 0 0.0014 1.84e-05 0.0014 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.48 182 ENSG00000184956 MUC6 MUC6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75684592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0012 0.0012 0.0024 0 0 0.0011 0.0011 0.0036 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75684592 rs75684592 1 1538 10 1/0 0,121,237 +rs757263289 11 1017786 G A - MUC6 7517 Mucin 6, oligomeric mucus/gel-forming NM_005961.2 -1 8003 7320 NP_005952.2 substitution missense exon GRCh37 1017786 1017786 Chr11(GRCh37):g.1017786G>A 5015 5015 NM_005961.2:c.5015C>T p.Thr1672Met p.Thr1672Met 31 158374 985 3' 73.0246 4.35138 0.154875 7.53509 73.0246 4.35138 0.154875 7.53509 0 Cryptic Acceptor Strongly Activated 1017773 1.1124 8,00E-06 65.152 2.35335 3.3e-05 68.2676 rs757263289 yes no Frequency 1 G 0.000000 0 0.000085 0.000308 0.000029 0.000000 0.000000 0.000000 0.000088 0.000080 0.000322 0.000308 23 7 1 0 0 0 11 2 2 271902 22724 34184 10134 18632 30728 124332 24948 6220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 1 0 0 0 11 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM2107878 Large intestine 0.000450 2220 transition C T C>T 0.000 0.125 T Thr ACG 0.116 M Met ATG 1.000 1672 11 5 Cat -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0.05 III.73 unknown 0.0 0.0 178 PASS . . . . . . . . . . . ENSG00000184956:ENST00000421673:exon31:c.C5015T:p.T1672M MUC6:uc001lsw.2:exon31:c.C5015T:p.T1672M MUC6:NM_005961:exon31:c.C5015T:p.T1672M . . 0.10858586 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.300 . @ . . . . . 1 0.259 . . 1188.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1672M|MUC6|mRNA|CODING|NM_005961|NM_005961.ex.31) . . . . . . . -0.5037 -0.753 -0.504 c . . . . . 1.818e-04 . . . 9.952e-05 0.0002 8.648e-05 0 0 0.0002 0 0.0006 0.0001 0.0001 8.917e-05 0 0 1.84e-05 0 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.148 @ . . . . . . ENSG00000184956 MUC6 MUC6 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.183 0.007 . . 37 . 0.199 . . 0.159 . . . 0.631 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.622 . . 0.435 . . . . . . 0 0.682 . . . . . 0.091 . 0.244 . LowAF 0.02 rs757263289 . . . . . . . . . . . . 4.0209 . ENST00000421673 I.31 0.271 . 0.230000 Q6W4X9 . . . . . 0.164 . . . 0 0 0 0 0 0 0 0 0 0.0009 0.0009 0.0016 0 0 0.0008 0.0009 0.0027 . . 0.000 . 0.091 0.091000 . . 0.230000 . . 1.0E-178 0.000 0.063 . 0.062 0.001 . 0.088 . 0.306 0.091 -0.021 . . . . . 1 1538 10 1/0 0,120,241 +rs147211853 11 1078456 C T - MUC2 7512 Mucin 2, oligomeric mucus/gel-forming ENST00000441003.2 1 8637 8454 NP_002448.3 substitution missense exon GRCh37 1078456 1078456 Chr11(GRCh37):g.1078456C>T 664 664 ENST00000441003.2:c.664C>T p.Arg222Cys p.Arg222Cys 6 158370 1 3' 76.0676 9.94225 0.633333 XII.52 75.5819 10.0646 0.702464 XII.61 0.0383569 Uncharacterised domain, cysteine-rich rs147211853 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.001000 0.000000 0.007000 0.007200 0.004246 0.000918 0.003957 0.009941 0.000000 0.002703 0.006255 0.000928 0.003546 0.009941 1118 21 133 98 0 82 740 22 22 263314 22882 33610 9858 18396 30336 118314 23714 6204 0.000015 0.000000 0.000060 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 2 0 1 0 0 0 1 0 0 1114 21 131 98 0 82 738 22 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8288 4043 12331 50 11 61 0.00599664 0.00271337 0.00492253 0.00599664 0.00271337 0.00492253 20 transition C T C>T 0.992 2.465 R Arg CGC 0.190 C Cys TGC 0.552 222 11 8 Horse -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 98.78 131.79 Deleterious 0 IV.32 255 PASS . 0.0032 0.01 . 0.01 . 0.0026 0.0072 . 0.007 0.001 . MUC2:uc001lsx.1:exon6:c.C664T:p.R222C MUC2:NM_002457:exon6:c.C664T:p.R222C . . 0.5141243 . . @ 91 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 177.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R222C|MUC2|mRNA|CODING|NM_002457|NM_002457.ex.6) 0.0027 0.0049 0.006 0.0027 0.0049 0.006 . 0.4383 . . . . . . . . 4.202e-03 . . . 0.0015 0.0056 0.0037 0 0.0008 0.0098 0.0020 0.0023 0.0014 0.0050 0.0033 0 0.0010 0.0079 0.0021 0.0023 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.16 0.28 182 ENSG00000198788 MUC2 MUC2 . . . . . . 208 0.00320118 64976 195 0.00325076 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 rs147211853 . 0.007 . . . . . 0.003205128205128205 0.0 0.008287292817679558 0.0 0.005277044854881266 15.6219 0.002377 . 3.VII 3.VII . . E7EUV1 . . . 0.004923 . . . . 3.VII 0.0008 0.0043 0.0040 0.0098 0 0.0007 0.0062 0.0036 0.0027 0.0010 0.0039 0.0036 0.0133 0 0.0020 0.0063 0.0031 . . . . 1.908 1.908000 . . . . . 1.0E-255 . . . . . . . . . 1.908 . 0.01 . . rs147211853 rs147211853 1 1538 10 1/0 0,239,255 +rs371736174 (chr11:1212789 G/A) 11 1212789 G A Not on a known gene +rs796230823 (chr11:1212803 G/A) 11 1212803 G A Not on a known gene +rs77015916 (chr11:1212813 C/A) 11 1212813 C A Not on a known gene +rs111218897 (chr11:1212825 C/T) 11 1212825 C T Not on a known gene +rs137895563 (chr11:1212846 T/C) 11 1212846 T C Not on a known gene +rs796069032 (chr11:1212864 C/T) 11 1212864 C T Not on a known gene +rs75826663 (chr11:1212871 T/C) 11 1212871 T C Not on a known gene +rs796683904 (chr11:1212878 C/G) 11 1212878 C G Not on a known gene +rs200292517 (chr11:1212902 C/G) 11 1212902 C G Not on a known gene +rs75313475 (chr11:1212909 C/A) 11 1212909 C A Not on a known gene +rs77782040 (chr11:1212921 C/T) 11 1212921 C T Not on a known gene +rs201069081 (chr11:1212942 T/C) 11 1212942 T C Not on a known gene +rs76103892 (chr11:1212966 C/T) 11 1212966 C T Not on a known gene +rs148720899 (chr11:1212967 T/C) 11 1212967 T C Not on a known gene +rs74742636 (chr11:1213017 C/T) 11 1213017 C T Not on a known gene +rs765843853 (chr11:1213143 T/C) 11 1213143 T C Not on a known gene +rs77643550 (chr11:1213159 C/A) 11 1213159 C A Not on a known gene +rs760913090 (chr11:1213274 A/C) 11 1213274 A C Not on a known gene +rs74888789 (chr11:1213539 C/T) 11 1213539 C T Not on a known gene +rs76792834 (chr11:1213554 C/T) 11 1213554 C T Not on a known gene +rs781251312 11 1252116 G A - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution intron GRCh37 1252116 1252116 Chr11(GRCh37):g.1252116G>A 1471-50 1471-50 NM_002458.2:c.1471-50G>A p.? p.? 13 12 600770 -50 3' 84.0528 XI.86 0.98456 XII.29 84.0528 XI.86 0.98456 XII.03 0 rs781251312 no no 0 G 0.000000 0 0.000017 0.000000 0.000040 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000040 3 0 1 0 0 0 2 0 0 180358 16378 25288 8492 12116 23012 71448 18796 4828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -2.135 255 PASS . . . . . . . . . . . . . . . . 0.5194805 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . INTRON(MODIFIER||||MUC5B|mRNA|CODING|NM_002458|) . . . . . . . 0.2981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000117983 MUC5B MUC5B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781251312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.338e-05 4.09e-05 0 0 0 1.771e-05 0 0 0 3.236e-05 0 0 0 0 6.678e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 11 1252181 G C - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1252181 1252181 Chr11(GRCh37):g.1252181G>C 1486 1486 NM_002458.2:c.1486G>C p.Ala496Pro p.Ala496Pro 13 600770 16 3' 84.0528 XI.86 0.98456 XII.29 84.0528 XI.86 0.985693 12.834 0.000383589 von Willebrand factor, type D domain transversion G C G>C 0.937 0.367 A Ala GCG 0.107 P Pro CCG 0.115 496 8 6 Cow -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 226.12 0.00 Deleterious 0.03 III.50 bad 4.641E-4 0.01247 255 PASS . . . . . . . . . . . . . MUC5B:NM_002458:exon13:c.G1486C:p.A496P . . 0.5304348 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.130 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Ccg|A496P|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.13) . . . . . . . -0.5635 -0.559 -0.563 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.570 . . exonic exonic exonic . . 0.326 @ . . . . . . ENSG00000117983 MUC5B MUC5B . . . 0.087 0.160 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.749 0.087 . . 37 . 0.355 . . 0.348 . . . 0.321 0.228 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.338 . . 0.357 . . . . . . 0 0.267 . . . . . 0.023 . 0.466 . HET . . . . . . . . . . . . . . I.54 . . III.93 II.89 . 0.000000 . . . . . . 0.124 . . II.89 . . . . . . . . . . . . . . . . . . . 0.052 . 1.726 1.726000 . . 0.000000 . . 1.0E-255 0.277 0.249 . 0.234 0.035 . 0.160 . 0.379 1.726 -0.048 . . . . . 1 1538 10 1/0 0,254,255 +rs201605309 11 1252215 C T - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1252215 1252215 Chr11(GRCh37):g.1252215C>T 1520 1520 NM_002458.2:c.1520C>T p.Thr507Met p.Thr507Met 13 600770 -21 5' 89.8263 9.80181 0.964099 XI.37 89.8263 9.80181 0.964099 XI.19 0 Cryptic Acceptor Strongly Activated 1252220 5.55754 0.113508 73.2817 6.55883 0.157585 76.8273 von Willebrand factor, type D domain rs201605309 yes no Frequency 1 C 0.000000 0 0.000768 0.000096 0.000830 0.000212 0.000000 0.000985 0.001082 0.000315 0.000684 0.001082 190 2 27 2 0 27 121 7 4 247402 20894 32516 9438 17208 27420 111838 22240 5848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 190 2 27 2 0 27 121 7 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8262 3934 12196 8 0 8 0.000967352 0 0.000655523 0.000967352 0 0.000655523 15 transition C T C>T 0.992 1.981 T Thr ACG 0.116 M Met ATG 1.000 507 8 6 Horse -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 215.31 64.73 Deleterious 0 III.50 bad 1.022E-4 9.091E-5 255 PASS . . . . . . . . . . . . . MUC5B:NM_002458:exon13:c.C1520T:p.T507M . . 0.47008547 . . @ 55 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.465 . @ . . . . . 1 0.287 . . 117.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T507M|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.13) . 0.0007 0.001 . 0.0007 0.001 . 0.4579 0.367 0.458 c . . . . . 7.423e-04 . . . 0.0005 0.0014 0.0013 0 0 0.0023 0 0.0008 0.0003 0.0015 0.0014 0 0 0.0023 0.0041 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.599 . . exonic exonic exonic . . 0.445 @ . . . 0.14 0.54 182 ENSG00000117983 MUC5B MUC5B . . . 0.750 0.233 . 23 0.000353977 64976 23 0.000383423 59986 Uncertain_significance . 0 . . . . . . D 0.851 0.174 . . 37 . 0.723 . . 0.641 . . . 0.513 0.257 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.839 . . 0 0 0 0 0 0 . 0.899 . . 0.745 . . . . . . 0 0.654 . . . . . 0.585 . 0.444 . HET . rs201605309 . . . . . . . . . . . . 13.1051 0.0 . III.93 III.93 . 0.000000 . . . . 0.000656 . 0.443 . . III.93 0.0002 0.0008 0.0008 0.0002 0 0.0003 0.0012 0.0008 0.0010 0 0.0004 0.0012 0 0 0.0003 0.0006 0 . . 0.208 . 1.726 1.726000 . . 0.000000 . . 1.0E-255 0.611 0.276 . 0.292 0.919 . 0.527 . 0.313 1.726 0.868 0.001 . . rs201605309 rs201605309 1 1538 10 1/0 0,252,255 +rs114904991 11 1255108 T C - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution intron GRCh37 1255108 1255108 Chr11(GRCh37):g.1255108T>C 2377+30 2377+30 NM_002458.2:c.2377+30T>C p.? p.? 19 19 600770 30 5' 100 X.83 0.998638 15.0801 100 X.83 0.998638 14.9793 0 rs114904991 yes no Frequency/1000G 2 T 0.000000 0 0.000296 0.000394 0.000116 0.000000 0.001127 0.000290 0.000264 0.000000 0.000791 0.001127 58 7 3 0 15 7 22 0 4 196214 17760 25956 8638 13314 24110 83232 18148 5056 0.000010 0.000000 0.000000 0.000000 0.000150 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 56 7 3 0 13 7 22 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.008 -1.812 202 PASS 0.05 0.06 0.06 0.06 0.06 . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||MUC5B|mRNA|CODING|NM_002458|) . . . . . . . -0.3238 . . . . . . . . . . . . 0 0.0002 0.0005 0.0015 0 7.607e-05 0 0.0001 0 9.63e-05 0.0005 0 0 6.676e-05 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.15 0.33 182 ENSG00000117983 MUC5B MUC5B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114904991 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0003 0.0001 0 0.0010 0 0.0003 0.0010 0.0003 0.0005 0.0003 0 0 0.0019 0 6.931e-05 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . 0.06 . . rs114904991 rs114904991 1 1538 10 1/0 0,255,255 +rs56257795 11 1263021 G T - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution synonymous exon GRCh37 1263021 1263021 Chr11(GRCh37):g.1263021G>T 4911 4911 NM_002458.2:c.4911G>T p.Pro1637= p.Pro1637Pro 31 600770 941 3' 85.9367 X.72 0.970418 13.5756 85.9367 X.72 0.970418 13.5756 0 Cryptic Acceptor Strongly Activated 1263033 0.001368 66.4686 0.934537 0.01413 72.4646 rs56257795 yes no Frequency/1000G 2 G 0.000000 0 0.005990 0.000000 0.022500 0.000000 0.007000 0.001400 0.008475 0.001570 0.002543 0.004995 0.000000 0.019025 0.008707 0.016829 0.007707 0.019025 2315 37 87 50 0 582 1081 429 49 273148 23566 34214 10010 18764 30592 124152 25492 6358 0.000095 0.000000 0.000000 0.000200 0.000000 0.000392 0.000064 0.000157 0.000000 13 0 0 1 0 6 4 2 0 2289 37 87 48 0 570 1073 425 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8230 4046 12276 68 6 74 0.00819475 0.00148075 0.0059919 0.00819475 0.00148075 0.0059919 29 transversion G T G>T 0.000 -2.458 P Pro CCG 0.115 P Pro CCT 0.283 1637 255 PASS . 0.0018 0.0028 . 0.004 . 0.006 0.0014 . 0.007 0.022 . MUC5B:uc001lta.3:exon31:c.G4911T:p.P1637P MUC5B:NM_002458:exon31:c.G4911T:p.P1637P . . 0.5182482 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 137.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccT|P1637|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.31) 0.0015 0.006 0.0082 0.0015 0.006 0.0082 . 0.0191 . . . . . . . . 8.629e-03 . . . 0.0023 0.0096 0.0021 0 0.0205 0.0091 0.0063 0.0212 0.0022 0.0091 0.0018 0 0.0187 0.0082 0.0078 0.0212 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0060 . . . 0.36 0.24 182 ENSG00000117983 MUC5B MUC5B . . . . . . 564 0.00868013 64976 534 0.00890208 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56257795 . 0.080 . . . . . . . . . . . . . . . . . . . . . 0.005992 . . . . . 0.0015 0.0086 0.0025 0.0052 0 0.0168 0.0087 0.0067 0.0190 0.0016 0.0071 0.0036 0 0 0.0169 0.0088 0.0134 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0082 rs56257795 rs56257795 rs56257795 rs56257795 1 1538 10 1/0 0,249,255 +rs199752800 11 1265627 C T - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1265627 1265627 Chr11(GRCh37):g.1265627C>T 7517 7517 NM_002458.2:c.7517C>T p.Thr2506Ile p.Thr2506Ile 31 600770 3547 3' 85.9367 X.72 0.970418 13.5756 85.9367 X.72 0.970418 13.5756 0 rs199752800 yes no Frequency 1 C 0.000000 0 0.000273 0.000422 0.000339 0.000000 0.000521 0.000000 0.000329 0.000101 0.000187 0.000521 60 8 10 0 8 0 31 2 1 219416 18960 29460 8446 15350 27996 94110 19738 5356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 8 10 0 8 0 31 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.770 T Thr ACC 0.361 I Ile ATC 0.481 2506 8 1 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 215 PASS . . . . . . . . . . . . MUC5B:uc001lta.3:exon31:c.C7517T:p.T2506I MUC5B:NM_002458:exon31:c.C7517T:p.T2506I . . 0.2 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.067 . . 90.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T2506I|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.31) . . . . . . . -0.7263 -0.868 -0.726 c . . . . . 7.479e-05 . . . 0 0.0002 0.0007 0 0 0.0003 0 0 0 0.0002 0.0007 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.206 @ . . . 0.25 0.14 182 ENSG00000117983 MUC5B MUC5B . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.106 0.004 . . 37 . 0.307 . . 0.341 . . . 0.694 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.399 . . 0 0 0 0 0 0 . 0.292 . . 0.305 . . . . . . 0 0.564 . . . . . 0.308 . 0.013 . HET . rs199752800 . . . . . . . . . . . . VIII.85 . . II.24 I.29 . 0.000000 . . . . . . 0.123 . . . 0 0.0001 0.0003 0 0 0 0.0002 0.0002 0 0.0010 0.0013 0.0013 0 0.0062 0.0006 0.0014 0 . . 0.246 . 1.240 1.240000 . . 0.000000 . . 1.0E-215 0.000 0.063 . 0.016 0.000 . 0.023 . 0.102 1.240 0.021 . rs4963055 rs4963055 rs4963055 rs199752800 1 1538 10 1/0 0,240,255 +rs200110372 11 1265872 G A - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1265872 1265872 Chr11(GRCh37):g.1265872G>A 7762 7762 NM_002458.2:c.7762G>A p.Gly2588Arg p.Gly2588Arg 31 600770 3792 3' 85.9367 X.72 0.970418 13.5756 85.9367 X.72 0.970418 13.5756 0 New Acceptor Site 1265874 III.38 0.003683 66.9799 rs200110372 yes no Frequency 1 G 0.000000 0 0.001408 0.003243 0.000730 0.000398 0.001170 0.002320 0.001186 0.001137 0.001583 0.003243 383 76 25 4 22 71 147 28 10 272022 23434 34246 10054 18800 30602 123934 24636 6316 0.000015 0.000000 0.000000 0.000000 0.000000 0.000131 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 379 76 25 4 22 67 147 28 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.377 G Gly GGG 0.250 R Arg AGG 0.207 2588 8 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.22 IV.32 unknown 0.0 0.0 200 PASS . . . . . . . . . . . . MUC5B:uc001lta.3:exon31:c.G7762A:p.G2588R MUC5B:NM_002458:exon31:c.G7762A:p.G2588R . . 0.16091955 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.030 . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G2588R|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.31) . . . . . . . -1.5949 -1.792 -1.595 c . . . . . 1.285e-03 . . . 0.0034 0.0015 0.0003 0.0014 0.0005 0.0006 0.0014 0.0038 0.0032 0.0013 0.0003 0.0014 0.0005 0.0005 0.0044 0.0037 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.248 . . exonic exonic exonic . . 0.023 @ . . . 0.28 0.17 182 ENSG00000117983 MUC5B MUC5B . . . 0.014 0.125 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.122 . . 0.077 . . . 0.112 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.245 . . 0 0 0 0 0 0 . 0.156 . . 0.040 . . . . . . 0 0.654 . . . . . 0.030 . 0.159 . HET . rs200110372 . . . . . . . . . . . . I.97 . ENST00000537836 II.81 -5.62 . 0.240000 . . . . . . 0.026 . . . 0.0024 0.0010 0.0007 0.0003 0.0012 0.0002 0.0007 0.0006 0.0023 0.0047 0.0049 0.0025 0.0034 0.0013 0.0073 0.0050 0.0078 . . 0.246 . -3.443 -3.443000 . . 0.000000 . . 1.0E-200 0.000 0.063 . 0.016 0.002 . 0.001 . 0.118 -3.443 0.917 . . . rs200110372 rs200110372 1 1538 10 1/0 0,238,255 +rs2860626 11 1270487 C T - MUC5B 7516 Mucin 5B, oligomeric mucus/gel-forming NM_002458.2 1 17916 17289 NP_002449.2 substitution missense exon GRCh37 1270487 1270487 Chr11(GRCh37):g.1270487C>T 12377 12377 NM_002458.2:c.12377C>T p.Thr4126Met p.Thr4126Met 31 600770 -2487 5' 86.7234 X.83 0.984167 8.13404 86.7234 X.83 0.984167 8.13404 0 rs2860626 yes no Frequency 1 C 0.000000 0 0.001070 0.000086 0.000995 0.000727 0.000106 0.000889 0.001453 0.001152 0.001778 0.001453 286 2 34 7 2 27 175 28 11 267234 23316 34164 9634 18820 30372 120428 24314 6186 0.000007 0.000000 0.000000 0.000000 0.000000 0.000066 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 284 2 34 7 2 25 175 28 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.037 T Thr ACG 0.116 M Met ATG 1.000 4126 8 6 Cow -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 79.02 63.95 Deleterious 0.01 III.51 bad 1.953E-3 0.002046 198 PASS . . . . . . . . . . . . MUC5B:uc001lta.3:exon31:c.C12377T:p.T4126M MUC5B:NM_002458:exon31:c.C12377T:p.T4126M . . 0.15517241 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.099 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T4126M|MUC5B|mRNA|CODING|NM_002458|NM_002458.ex.31) . . . . . . . -0.8844 -1.068 -0.884 c . . . . . 8.628e-03 . . . 0.0024 0.0060 0.0014 0 0.0212 0.0086 0.0095 0.0037 0.0025 0.0084 0.0015 0 0.0275 0.0112 0.0194 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.237 . . exonic exonic exonic . . 0.118 @ . . . 0.38 0.24 182 ENSG00000117983 MUC5B MUC5B . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.167 . . 0.105 . . . 0.203 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.299 . . 0 0 0 0 0 0 . 0.647 . . 0.532 . . . . . . 0 0.682 . . . . . 0.010 . 0.100 . HET . rs2860626 . . . . . . . . . . . . 0.8229 0.0 . II.99 -0.396 . 0.000000 . . . . . . 0.049 . . . 6.784e-05 0.0011 0.0010 0.0007 0.0001 0.0013 0.0015 0.0019 0.0009 0.0001 0.0007 0.0025 0 0 0.0003 0.0011 0.0011 . . 0.133 . -0.364 -0.364000 . . 0.000000 . . 1.0E-198 0.000 0.063 . 0.095 0.004 . 0.073 . 0.069 -0.364 0.827 . . . rs2860626 rs2860626 1 1538 10 1/0 0,255,255 +rs138363822 11 1606147 A G - KRTAP5-1 23596 Keratin associated protein 5-1 NM_001005922.1 -1 942 837 NP_001005922.1 Q6L8H4 substitution synonymous exon GRCh37 1606147 1606147 Chr11(GRCh37):g.1606147A>G 333 333 NM_001005922.1:c.333T>C p.Ser111= p.Ser111Ser 1 148022 rs138363822 yes no Frequency/1000G 2 A 0.000000 0 0.444289 0.529500 0.470300 0.329400 0.456300 0.394800 0.001629 0.001089 0.001561 0.002430 0.001042 0.002285 0.001591 0.001535 0.001550 0.002430 337 15 41 20 15 59 150 30 7 206824 13772 26258 8232 14394 25820 94284 19548 4516 0.000184 0.000290 0.000000 0.000243 0.000000 0.000077 0.000233 0.000307 0.000443 19 2 0 1 0 1 11 3 1 299 11 41 18 15 57 128 24 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145573|COSM4145573 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition T C T>C 0.346 0.125 S Ser TCT 0.185 S Ser TCC 0.220 111 111 PASS 0.3 0.28 0.32 0.21 0.3 0.53 0.44 0.39 0.33 0.46 0.47 ENSG00000205869:ENST00000382171:exon1:c.T333C:p.S111S KRTAP5-1:uc001ltu.1:exon1:c.T333C:p.S111S KRTAP5-1:NM_001005922:exon1:c.T333C:p.S111S . . 0.6363636 . . @ 7 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.1842 . . . . . . . . . . . . 0.0223 0.0153 0.0050 0.0061 0.0612 0.0209 0.0485 0.0037 0.0211 0.0113 0.0048 0.0038 0.0423 0.0129 0.0385 0.0037 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.4443 . . . 0.22 0.12 182 ENSG00000205869 KRTAP5-1 KRTAP5-1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs138363822 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv968n71 . . . . . . 0.0011 0.0016 0.0016 0.0024 0.0011 0.0015 0.0016 0.0014 0.0023 0.0008 0.0014 0 0 0 0.0031 0.0009 0.0060 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.32 . . rs138363822 rs138363822 1 1538 10 1/0 0,0,0 +rs4752771 11 1651643 C T - KRTAP5-5 23601 Keratin associated protein 5-5 NM_001001480.2 1 1128 714 NP_001001480.2 Q701N2 substitution synonymous exon GRCh37 1651643 1651643 Chr11(GRCh37):g.1651643C>T 573 573 NM_001001480.2:c.573C>T p.Pro191= p.Pro191Pro 1 Keratin, high sulphur B2 protein rs4752771 yes no Frequency/1000G 2 C 0.000000 0 0.001222 0.000903 0.000146 0.000997 0.001665 0.000609 0.001997 0.000242 0.000546 0.001997 185 15 3 4 22 8 127 4 2 151330 16618 20530 4014 13212 13130 63602 16560 3664 0.000119 0.000000 0.000000 0.000000 0.000000 0.000000 0.000283 0.000000 0.000000 9 0 0 0 0 0 9 0 0 166 15 3 4 22 8 108 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM428756|COSM428756|COSM428756|COSM428756|COSM428756|COSM428756|COSM428756|COSM428756 Thyroid|Prostate|Oesophagus|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system|Breast|Biliary tract 0.001339|0.001134|0.000712|0.000450|0.000566|0.001679|0.003276|0.002732 747|1764|1405|2220|3531|2383|2442|366 transition C T C>T 0.969 1.416 P Pro CCC 0.328 P Pro CCT 0.283 191 255 PASS 0.31 0.31 0.3 0.3 0.32 . . . . . . ENSG00000185940:ENST00000399676:exon1:c.C573T:p.P191P KRTAP5-5:uc001lty.3:exon1:c.C573T:p.P191P KRTAP5-5:NM_001001480:exon1:c.C573T:p.P191P . . 0.4452555 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 137.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P191|KRTAP5-5|mRNA|CODING|NM_001001480|NM_001001480.ex.1) . . . . . . . 0.0365 . . . . . . . . 5.276e-03 . . . 0 0.0005 0.0004 0.0011 0 0 0 0.0018 0 0.0005 0.0004 0.0020 0 0 0 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.16 182 ENSG00000185940 KRTAP5-5 KRTAP5-5 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4752771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0010 0.0002 0.0005 0.0017 0.0002 0.0015 0 0.0006 0.0013 0.0024 0 0.0072 0.0013 0.0003 0.0038 0.0023 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.32 rs28636372 rs28636372 rs4752771 rs4752771 1 1538 10 1/0 0,255,255 +. 11 2324607 T G - C11orf21 13231 Chromosome 11 open reading frame 21 NM_001142946.2 -1 2899 537 NP_001136418.1 substitution upstream GRCh37 2324607 2324607 Chr11(GRCh37):g.2324607T>G -1516 -1516 NM_001142946.2:c.-1516A>C p.? p.? 1 611033 -1622 5' 86.8044 8.70331 0.733888 8.88124 86.8044 8.70331 0.733888 8.88124 0 0.001046 0.001134 0.000855 0.000000 0.000000 0.000000 0.000742 0.004570 0.001119 0.004570 33 8 1 0 0 0 13 10 1 31558 7056 1170 482 1666 580 17522 2188 894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 8 1 0 0 0 13 10 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.521 206 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 1.0120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000064201 TSPAN32 TSPAN32 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0012 0.0014 0.0018 0 0 0.0046 0.0011 0.0014 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 11 2324607 T G - TSPAN32 13410 Tetraspanin 32 NM_139022.2 1 1376 963 NP_620591.3 Q96QS1 substitution intron GRCh37 2324607 2324607 Chr11(GRCh37):g.2324607T>G 181+419 181+419 NM_139022.2:c.181+419T>G p.? p.? 2 2 603853 419 5' 87.9846 9.65245 0.996112 7.01935 87.9846 9.65245 0.996112 7.01935 0 0.001046 0.001134 0.000855 0.000000 0.000000 0.000000 0.000742 0.004570 0.001119 0.004570 33 8 1 0 0 0 13 10 1 31558 7056 1170 482 1666 580 17522 2188 894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 8 1 0 0 0 13 10 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -0.521 206 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 1.0120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000064201 TSPAN32 TSPAN32 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0012 0.0014 0.0018 0 0 0.0046 0.0011 0.0014 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs78184020 11 3122912 G A - OSBPL5 16392 Oxysterol binding protein-like 5 NM_020896.3 -1 3887 2640 NP_065947.1 Q9H0X9 substitution synonymous exon GRCh37 3122912 3122912 Chr11(GRCh37):g.3122912G>A 1443 1443 NM_020896.3:c.1443C>T p.Pro481= p.Pro481Pro 13 606733 18 3' 80.7658 8.18422 0.447443 8.92802 80.7658 8.18422 0.541898 8.83514 0.0703665 Oxysterol-binding protein rs78184020 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.003305 0.001416 0.001686 0.000197 0.000583 0.003476 0.004969 0.001922 0.003871 0.004969 914 34 58 2 11 107 628 49 25 276538 24008 34404 10146 18860 30780 126388 25494 6458 0.000043 0.000000 0.000000 0.000000 0.000000 0.000130 0.000032 0.000000 0.000619 6 0 0 0 0 2 2 0 2 902 34 58 2 11 103 624 49 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8552 4397 12949 44 7 51 0.00511866 0.00158946 0.00392308 0.00511866 0.00158946 0.00392308 55 transition C T C>T 0.969 -0.360 P Pro CCC 0.328 P Pro CCT 0.283 481 255 PASS . 0.0018 . . 0.01 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.45360824 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . . 0.0016 0.0039 0.0051 0.0016 0.0039 0.0051 . 0.5159 . . . . . . . . 3.283e-03 . . . 0.0013 0.0033 0.0023 0.0005 0.0021 0.0047 0.0043 0.0030 0.0012 0.0032 0.0022 0.0006 0.0020 0.0043 0.0029 0.0031 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.31 0.47 182 ENSG00000021762 OSBPL5 OSBPL5 . . . . . . 250 0.00384757 64976 243 0.00405095 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78184020 . . . . . . . . . . . . . . . . . . . . . . . 0.003923 . . . . . 0.0015 0.0033 0.0017 0.0002 0.0006 0.0017 0.0050 0.0040 0.0035 0.0013 0.0031 0.0012 0 0.0006 0.0032 0.0045 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs78184020 rs78184020 1 1538 10 1/0 0,255,255 +rs200223449 11 3431630 C T - TSSC2 12384 Tumor suppressing subtransferable candidate 2 pseudogene NR_024248.1 1 1477 0 substitution downstream GRCh37 3431630 3431630 Chr11(GRCh37):g.3431630C>T *1252 *1252 NR_024248.1:n.*1252C>T p.? p.? 11 608999 1715 3' 99.1532 11.475 0.990206 14.6872 99.1532 11.475 0.990206 14.6872 0 rs200223449 no no 0 0.000000 0 0.001510 0.001110 0.001276 0.007246 0.000000 0.000000 0.002196 0.000000 0.001071 0.007246 44 9 1 2 0 0 31 0 1 29146 8108 784 276 1522 0 14116 3406 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 9 1 2 0 0 31 0 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition C T C>T 0.315 0.044 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . DOWNSTREAM(MODIFIER||||TSSC2|Non-coding_transcript|NON_CODING|NR_024248|) . . . . . . . -0.2476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.24 0.23 182 ENSG00000166492 . . . dist\x3d1252\x3bdist\x3d206832 dist\x3d1252\x3bdist\x3d97580 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200223449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0015 0.0013 0.0072 0 0 0.0022 0.0011 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs200223449 rs200223449 1 1538 10 1/0 0,243,255 +rs111587674 11 3431671 C T - TSSC2 12384 Tumor suppressing subtransferable candidate 2 pseudogene NR_024248.1 1 1477 0 substitution downstream GRCh37 3431671 3431671 Chr11(GRCh37):g.3431671C>T *1293 *1293 NR_024248.1:n.*1293C>T p.? p.? 11 608999 1756 3' 99.1532 11.475 0.990206 14.6872 99.1532 11.475 0.990206 14.6872 0 Cryptic Acceptor Strongly Activated 3431690 1.757 0.000728 61.9027 2.03111 0.001101 61.9027 rs111587674 yes no Frequency 1 0.000000 0 0.000604 0.000480 0.002500 0.000000 0.000000 0.000000 0.000762 0.000000 0.001064 0.002500 18 4 2 0 0 0 11 0 1 29824 8328 800 284 1582 0 14434 3456 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 4 2 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition C T C>T 0.031 0.044 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . DOWNSTREAM(MODIFIER||||TSSC2|Non-coding_transcript|NON_CODING|NR_024248|) . . . . . . . -0.0639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.31 0.24 182 ENSG00000166492 . . . dist\x3d1293\x3bdist\x3d206791 dist\x3d1293\x3bdist\x3d97539 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111587674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0.0025 0 0 0 0.0008 0.0011 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs111587674 rs111587674 1 1538 10 1/0 0,246,255 +rs146829053 11 4870138 G A - OR51S1 15204 Olfactory receptor, family 51, subfamily S, member 1 NM_001004758.1 -1 972 972 NP_001004758.1 Q8NGJ8 substitution missense exon GRCh37 4870138 4870138 Chr11(GRCh37):g.4870138G>A 301 301 NM_001004758.1:c.301C>T p.Pro101Ser p.Pro101Ser 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily Olfactory receptor rs146829053 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001002 0.000375 0.001105 0.000692 0.000000 0.000000 0.001672 0.000000 0.001858 0.001672 277 9 38 7 0 0 211 0 12 276536 24016 34400 10116 18858 30760 126164 25764 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 277 9 38 7 0 0 211 0 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4400 12982 14 2 16 0.00162866 0.000454339 0.00123096 0.00162866 0.000454339 0.00123096 103 transition C T C>T 0.417 0.205 P Pro CCT 0.283 S Ser TCT 0.185 101 10 8 Little brown bat -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 209.54 0.00 Tolerated 0.18 IV.32 good 1.07E-1 0.001924 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . ENSG00000176922:ENST00000322101:exon1:c.C301T:p.P101S OR51S1:uc010qyo.2:exon1:c.C301T:p.P101S OR51S1:NM_001004758:exon1:c.C301T:p.P101S . . 0.5603448 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.055 . @ . . . . . 1 0.082 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P101S|OR51S1|mRNA|CODING|NM_001004758|NM_001004758.ex.1) 0.0005 0.0012 0.0016 0.0005 0.0012 0.0016 . -1.0548 -0.957 -1.055 c . . . . . 9.471e-04 . . . 0.0004 0.0011 0.0011 0 0 0.0019 0.0014 0 0.0004 0.0009 0.0012 0 0 0.0015 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.091 0.0004 . . . 0.14 0.1 182 ENSG00000176922 OR51S1 OR51S1 . . . 0.000 0.029 . 141 0.00217003 64976 139 0.00231721 59986 Uncertain_significance . 0 . 0.268 . . . . T 0.034 0.002 . . 37 . 0.082 . . 0.254 . . . 0.030 0.380 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.112 . . 0.112 . . . . . . 0 0.010 . . . . . 0.011 . 0.114 . HET 0.92 rs146829053 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 0.8411 5.35E-4 ENST00000322101 IV.65 -1.18 . 1.000000 Q8NGJ8 . . . 0.001231 . 0.039 . . . 0.0003 0.0010 0.0011 0.0007 0 0 0.0017 0.0022 0 0.0006 0.0009 0 0 0 0 0.0015 0 . . 0.212 . 0.120 0.120000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.448 0.187 . 0.085 . 0.551 0.120 0.069 0.0016 . . rs146829053 rs146829053 1 1538 10 1/0 0,255,255 +rs113743709 11 5013424 T G - MMP26 14249 Matrix metallopeptidase 26 NM_021801.4 1 994 786 NP_068573.2 Q9NRE1 substitution intron GRCh37 5013424 5013424 Chr11(GRCh37):g.5013424T>G 758-20 758-20 NM_021801.4:c.758-20T>G p.? p.? 6 5 605470 -20 3' 86.3878 XI.62 0.9951 9.61108 86.3878 X.63 0.994943 9.31677 -0.0223559 rs113743709 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000800 0.000000 0.000000 0.002000 0.001400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 130214 8336 24416 4392 14694 15708 50370 9630 2668 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 120 Exomes transversion T G T>G 0.000 0.044 176 PASS . . . . . 0.0008 0.0008 0.0014 . 0.002 . . . . . . 0.10638298 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||MMP26|mRNA|CODING|NM_021801|) . . . . . . . -0.2381 . . . . . . . . 6.746e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.25 0.04 182 ENSG00000167346 MMP26 MMP26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs113743709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs113743709 rs113743709 1 1538 10 1/0 0,255,255 +rs143181883 11 5153175 T C - OR52A5 19580 Olfactory receptor, family 52, subfamily A, member 5 NM_001005160.2 -1 951 951 NP_001005160.1 Q9H2C5 substitution missense exon GRCh37 5153175 5153175 Chr11(GRCh37):g.5153175T>C 698 698 NM_001005160.2:c.698A>G p.Gln233Arg p.Gln233Arg 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs143181883 yes no Frequency 1 T 0.000000 0 0.000722 0.000000 0.000116 0.000000 0.000000 0.000000 0.001392 0.000659 0.000464 0.001392 200 0 4 0 0 0 176 17 3 276888 24028 34412 10140 18866 30780 126406 25792 6464 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 196 0 4 0 0 0 172 17 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4402 12988 10 0 10 0.00116333 0 0.000769349 0.00116333 0 0.000769349 90 transition A G A>G 0.992 2.304 Q Gln CAG 0.744 R Arg CGG 0.207 233 10 9 Armadillo 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 29.27 42.81 Deleterious 0.02 IV.32 bad 6.096E-3 0.0002051 255 PASS . . . . . . . . . . . ENSG00000171944:ENST00000307388:exon1:c.A698G:p.Q233R OR52A5:uc010qyx.2:exon1:c.A698G:p.Q233R OR52A5:NM_001005160:exon1:c.A698G:p.Q233R . . 0.530303 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.312 . @ . . . . . 1 0.401 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q233R|OR52A5|mRNA|CODING|NM_001005160|NM_001005160.ex.1) . 0.0008 0.0012 . 0.0008 0.0012 . -0.3703 -0.325 -0.370 c . . . . . 8.208e-04 . . . 0 0.0007 0.0002 0 0.0003 0.0014 0 0 0 0.0007 0.0002 0 0.0003 0.0013 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.001 . . exonic exonic exonic . . 0.685 @ . . . 0.42 0.64 182 ENSG00000171944 OR52A5 OR52A5 . . . 1.0 0.983 . 27 0.000415538 64976 27 0.000450105 59986 Uncertain_significance . 0 . 0.308 . . . . T 0.064 0.003 . . 37 . 0.002 . . 0.260 . . . 0.510 0.281 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.156 . . 0.257 . . . . . . 0 0.632 . . . . . 0.628 . 0.270 . HET 0 rs143181883 . . . . . . . . . . . . 13.8388 0.0 ENST00000307388 5.IX 5.IX . 0.000000 Q9H2C5 . . . 0.000769 . 0.230 . . 5.IX 0 0.0007 0.0001 0 0 0.0008 0.0013 0.0005 0 0 0.0010 0 0 0 0 0.0020 0 . . 0.133 . 2.132 2.132000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.562 0.018 . 0.223 . 0.807 2.132 -0.013 0.0012 . . rs143181883 rs143181883 1 1538 10 1/0 0,255,255 +rs5009539 11 5269583 G A - HBG1 4831 Hemoglobin subunit gamma 1 NM_000559.2 -1 584 444 NP_000550.2 P69891 substitution 3'UTR GRCh37 5269583 5269583 Chr11(GRCh37):g.5269583G>A *6 *6 NM_000559.2:c.*6C>T p.? p.? 3 142200 135 3' 83.9751 9.94972 0.975946 IX.28 83.9751 9.94972 0.975946 IX.28 0 rs5009539 yes no Frequency/1000G 2 G 0.000000 0 0.477436 0.497000 0.473400 0.473200 0.458300 0.479800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 232078 14582 31600 9030 16378 28740 105290 21332 5126 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 137 Exomes transition C T C>T 0.000 -1.974 255 PASS . . . . . 0.5 0.48 0.48 0.47 0.46 0.47 . . . . . 0.50442475 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . . . . . . . . . -0.4775 . . . . . . . . . . . . 0 0.0003 0 0 0 0.0005 0 0 0 0.0002 0 0 0 0.0004 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.4774 . . . 0.57 0.8 182 ENSG00000213934 . HBG1 ENST00000330597:c.*6C>T uc001mah.1:c.*6C>T\x3buc001mai.1:c.*6C>T NM_000559:c.*6C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs5009539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76701119 rs76701119 1 1538 10 1/0 0,252,255 +. 11 5269584 T G - HBG1 4831 Hemoglobin subunit gamma 1 NM_000559.2 -1 584 444 NP_000550.2 P69891 substitution 3'UTR GRCh37 5269584 5269584 Chr11(GRCh37):g.5269584T>G *5 *5 NM_000559.2:c.*5A>C p.? p.? 3 142200 134 3' 83.9751 9.94972 0.975946 IX.28 83.9751 9.94972 0.975946 IX.28 0 Cryptic Acceptor Strongly Activated 5269568 2.70978 0.01113 73.4763 IV.06 0.043808 73.4763 rs1065686 yes no Frequency/1000G 2 G 0.000000 0 0.718450 0.719400 0.697300 0.799600 0.668000 0.701700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 232944 14494 31742 9096 16486 28916 105624 21442 5144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 137 Exomes transversion A C A>C 0.000 -0.521 255 PASS . . . . . 0.72 0.72 0.7 0.8 0.67 0.7 . . . . . 0.5132743 . . . 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 113.0 . . . . . . . . . . -0.1560 . . . . . . . . 7.948e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . UTR3 UTR3 UTR3 . . . . . . . 0.58 0.76 182 ENSG00000213934 . HBG1 ENST00000330597:c.*5A>C uc001mah.1:c.*5A>C\x3buc001mai.1:c.*5A>C NM_000559:c.*5A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1065686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs1065686 rs1065686 1 1538 10 1/0 0,253,255 +rs61893083 11 5269585 G A - HBG1 4831 Hemoglobin subunit gamma 1 NM_000559.2 -1 584 444 NP_000550.2 P69891 substitution 3'UTR GRCh37 5269585 5269585 Chr11(GRCh37):g.5269585G>A *4 *4 NM_000559.2:c.*4C>T p.? p.? 3 142200 133 3' 83.9751 9.94972 0.975946 IX.28 83.9751 9.94972 0.975946 IX.28 0 Cryptic Acceptor Strongly Activated 5269568 2.70978 0.01113 73.4763 3.22159 0.03068 73.4763 rs61893083 yes no Frequency/1000G 2 G 0.000000 0 0.718450 0.719400 0.697300 0.799600 0.668000 0.701700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11018 440 1042 362 190 1174 5544 2086 180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 2900 Exomes transition C T C>T 0.000 -0.279 255 PASS . . . . . 0.72 0.72 0.7 0.8 0.67 0.7 . . . . . 0.49565217 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 115.0 . . . . . . . . . . -1.0225 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.2815 . . . 0.6 0.76 182 ENSG00000213934 . HBG1 ENST00000330597:c.*4C>T uc001mah.1:c.*4C>T\x3buc001mai.1:c.*4C>T NM_000559:c.*4C>T . . . 38613 0.594266 64976 36113 0.602024 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs61893083 . . . . . . . . . . . . IV.23 . ENST00000380256 2.V 0.488 . 0.000000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -0.340 -0.340000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -0.340 . . rs61893083 rs61893083 rs61893083 rs61893083 1 1538 10 1/0 0,251,255 +rs62755960 11 5269586 A G - HBG1 4831 Hemoglobin subunit gamma 1 NM_000559.2 -1 584 444 NP_000550.2 P69891 substitution 3'UTR GRCh37 5269586 5269586 Chr11(GRCh37):g.5269586A>G *3 *3 NM_000559.2:c.*3T>C p.? p.? 3 142200 132 3' 83.9751 9.94972 0.975946 IX.28 83.9751 9.94972 0.975946 IX.28 0 rs62755960 yes no Frequency/1000G 2 G 0.000000 0 0.718450 0.719400 0.697300 0.799600 0.668000 0.701700 transition T C T>C 0.000 -1.570 255 PASS . . . . . 0.72 0.72 0.7 0.8 0.67 0.7 . . . . . 0.49107143 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . . . . . . . . . -1.0313 . . . . . . . . 3.180e-05 . . . 0 1.13e-05 0 0 0 2.447e-05 0 0 0 9.641e-06 0 0 0 1.889e-05 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.2815 . . . 0.49 0.77 182 ENSG00000213934 . HBG1 ENST00000330597:c.*3T>C uc001mah.1:c.*3T>C\x3buc001mai.1:c.*3T>C NM_000559:c.*3T>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs62755960 . . . . . . . . . . . . II.68 . ENST00000380256 II.59 -4.15 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.175 -1.175000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -1.175 . . rs62755960 rs62755960 rs62755960 rs62755960 1 1538 10 1/0 0,252,255 +rs145231699 11 5364030 T C - OR51B5 19599 Olfactory receptor, family 51, subfamily B, member 5 NM_001005567.1 -1 939 939 NP_001005567.1 Q9H339 substitution missense exon GRCh37 5364030 5364030 Chr11(GRCh37):g.5364030T>C 725 725 NM_001005567.1:c.725A>G p.His242Arg p.His242Arg 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) Olfactory receptor GPCR, rhodopsin-like superfamily rs145231699 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.003717 0.000292 0.000670 0.008547 0.000000 0.000000 0.004971 0.009924 0.004503 0.009924 1025 7 23 86 0 0 625 255 29 275728 24010 34320 10062 18848 30620 125732 25696 6440 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 1021 7 23 86 0 0 621 255 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8572 4401 12973 22 1 23 0.00255993 0.000227169 0.00176978 0.00255993 0.000227169 0.00176978 115 transition A G A>G 1.000 4.483 H His CAT 0.413 R Arg CGT 0.082 242 11 11 Platypus 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C25 0.00 28.82 Deleterious 0 III.73 bad 1.627E-5 9.497E-5 255 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0014 . 0.006 . ENSG00000242180:ENST00000300773:exon1:c.A725G:p.H242R . OR51B5:NM_001005567:exon5:c.A725G:p.H242R . . 0.47435898 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.655 . @ . . . . . 1 0.851 . . 78.0 . . . 0.0002 0.0018 0.0026 0.0002 0.0018 0.0026 . 0.7473 0.655 0.747 c . . . . . 3.378e-03 . . . 9.686e-05 0.0026 0.0007 0 0.0110 0.0043 0.0042 0 0.0001 0.0030 0.0007 0 0.0091 0.0044 0.0072 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.003 . . exonic exonic exonic . . 0.603 0.0014 . . . 0.31 0.33 182 ENSG00000242180 OR51B5 OR51B5 . . . 1.000 0.747 . 225 0.00346282 64976 218 0.00363418 59986 Uncertain_significance . 0 . 0.422 . . . . T 0.192 0.007 . . 37 . 0.006 . . 0.537 . . . 0.996 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.960 . . 0 0 0 0 0 0 . 0.541 . . 0.595 . . . . . . 1 0.614 . . . . . 0.596 . 0.931 . HET 0.01 rs145231699 . . . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 13.3051 2.68E-4 ENST00000300773 IV.77 IV.77 . 0.000000 Q9H339 . . . 0.001770 . 0.829 . . IV.77 6.542e-05 0.0033 0.0007 0.0085 0 0.0098 0.0041 0.0038 0 0.0007 0.0072 0 0.0099 0 0.0109 0.0113 0.0081 . . 0.133 . 2.019 2.019000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.750 0.972 . 0.625 . 0.759 2.019 0.991 0.01 . . rs145231699 rs145231699 1 1538 10 1/0 0,255,255 +rs369178118 11 6584902 C T - DNHD1 26532 Dynein heavy chain domain 1 NM_144666.2 1 14865 14262 NP_653267.2 Q96M86 substitution intron GRCh37 6584902 6584902 Chr11(GRCh37):g.6584902C>T 9853-21 9853-21 NM_144666.2:c.9853-21C>T p.? p.? 31 30 617277 -21 3' 85.3906 6.08434 0.632436 3.94907 85.3906 6.08434 0.581953 4.32319 -0.0266077 rs369178118 yes no Frequency 1 C 0.000000 0 0.000465 0.000123 0.000162 0.000000 0.000000 0.000221 0.000943 0.000000 0.000633 0.000943 81 2 4 0 0 5 67 0 3 174346 16296 24684 8348 11814 22624 71070 14770 4740 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 81 2 4 0 0 5 67 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3180 1384 4564 2 0 2 0.000628536 0 0.00043802 0.000628536 0 0.00043802 108 transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.53521127 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . INTRON(MODIFIER||||DNHD1|mRNA|CODING|NM_144666|) . 0.0004 0.0006 . 0.0004 0.0006 . 0.5255 . . . . . . . . 4.152e-04 . . . 0 0.0005 0 0 0 0.0010 0 0.0003 0 0.0002 0 0 0 0.0002 0 0.0003 . . . . . . intronic UTR3 intronic . . . @ . . . 0.35 0.2 182 ENSG00000179532 DNHD1 DNHD1 . uc001mdx.1:c.*75C>T . . . . 41 0.000631002 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369178118 . . . . . . . . . . . . . . . . . . . . . . . 0.000438 . . . . . 0.0001 0.0005 0.0001 0 0 0 0.0010 0.0005 0.0002 0.0001 0.0004 0.0012 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs369178118 rs369178118 1 1538 10 1/0 0,246,255 +rs150797879 11 6891682 C T - OR10A2 8161 Olfactory receptor, family 10, subfamily A, member 2 NM_001004460.1 1 912 912 NP_001004460.1 Q9H208 substitution missense exon GRCh37 6891682 6891682 Chr11(GRCh37):g.6891682C>T 697 697 NM_001004460.1:c.697C>T p.Leu233Phe p.Leu233Phe 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs150797879 yes no Frequency 1 0.000000 0 0.000599 0.000250 0.000000 0.000000 0.000000 0.001234 0.000931 0.000000 0.000619 0.001234 166 6 0 0 0 38 118 0 4 277224 24038 34420 10152 18870 30782 126708 25790 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 164 6 0 0 0 38 116 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4399 12983 8 3 11 0.000931099 0.000681508 0.000846545 0.000931099 0.000681508 0.000846545 232 transition C T C>T 0.827 0.286 L Leu CTT 0.129 F Phe TTT 0.454 233 10 8 Armadillo 1 0 0 0 0 4.IX 5.II 111 132 22 C0 30.92 21.28 Deleterious 0.04 IV.32 good 5.07E-2 0.0006517 255 PASS . . . . . . . . . . . ENSG00000170790:ENST00000307322:exon1:c.C697T:p.L233F OR10A2:uc001meu.1:exon1:c.C697T:p.L233F OR10A2:NM_001004460:exon1:c.C697T:p.L233F . . 0.3490566 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.602 . @ . . . . . 1 0.939 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L233F|OR10A2|mRNA|CODING|NM_001004460|NM_001004460.ex.1) 0.0007 0.0008 0.0009 0.0007 0.0008 0.0009 . -0.0570 -0.154 -0.057 c . . . . . 5.840e-04 . . . 0.0004 0.0006 0 0 0 0.0008 0 0.0011 0.0004 0.0006 0 0 0 0.0007 0 0.0011 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.392 . . exonic exonic exonic . . 0.362 @ . . . 0.25 0.18 182 ENSG00000170790 OR10A2 OR10A2 . . . 0.000 0.038 . 47 0.000723344 64976 47 0.000783516 59986 Uncertain_significance . 0 . 0.523 . . . . T 0.248 0.009 . . 37 . 0.429 . . 0.265 . . . 0.336 0.270 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.529 . . 0 0 0 0 0 0 . 0.484 . . 0.561 . . . . . . 0 0.632 . . . . . 0.267 . 0.344 . HET 0.02 rs150797879 . . . . . . . . . . . . VII.85 8.03E-4 ENST00000307322 IV.18 III.25 . 0.010000 Q9H208 . . . 0.000847 . 0.179 . . III.25 0.0003 0.0006 0 0 0 0 0.0010 0.0007 0.0012 0.0001 0.0004 0 0 0 0 0.0007 0 . . 0.246 . 1.102 1.102000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.325 0.823 . 0.061 . 0.143 1.102 -0.823 0.0009 . . rs150797879 rs150797879 1 1538 10 1/0 0,246,255 +. 11 8970115 T TA - TMEM9B 1168 TMEM9 domain family, member B NM_020644.2 -1 2176 597 NP_065695.1 Q9NQ34 duplication intron GRCh37 8970115 8970116 Chr11(GRCh37):g.8970116dup 442-94 442-94 NM_020644.2:c.442-94dup p.? p.? 5 4 -93 3' 79.4898 6.63988 0.473648 7.84929 79.4898 6.63988 0.473648 7.84929 0 rs538569146 yes no Frequency 1 0.000000 0 0.005557 0.001261 0.002387 0.000000 0.000000 0.000000 0.008402 0.007155 0.008180 0.008402 172 11 2 0 0 0 126 25 8 30950 8722 838 302 1620 0 14996 3494 978 0.011628 0.000000 0.000000 0.000000 0.000000 0.000000 0.015873 0.000000 0.000000 2 0 0 0 0 0 2 0 0 168 11 2 0 0 0 122 25 8 0 0 0 0 0 0 0 0 0 PASS 42 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.45614034 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000175348 TMEM9B TMEM9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs538569146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0056 0.0024 0 0 0.0072 0.0084 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +rs367801509 11 9608440 A T - WEE1 12761 WEE1 homolog (S. pombe) NM_003390.3 1 3359 1941 NP_003381.1 P30291 substitution intron GRCh37 9608440 9608440 Chr11(GRCh37):g.9608440A>T 1787+37 1787+37 NM_003390.3:c.1787+37A>T p.? p.? 10 10 193525 37 5' 87.5573 9.72159 0.982188 4.83174 87.5573 9.72159 0.982188 5.01176 0 rs367801509 yes no Frequency 1 A 0.000000 0 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000068 7 0 0 0 0 0 7 0 0 222874 21998 24130 7198 15982 22014 102690 23642 5220 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8559 4354 12913 1 0 1 0.000116822 0 7.74353e-05 0.000116822 0 7.74353e-05 16 transversion A T A>T 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.4375 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.2585 . . . . . . . . 2.377e-05 . . . 0 4.278e-05 0 0 0 9.282e-05 0 0 0 3.769e-05 0 0 0 7.593e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.1 182 ENSG00000166483 WEE1 WEE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367801509 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 3.126e-05 0 0 0 0 6.841e-05 0 0 0 3.233e-05 0 0 0 0 6.673e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs367801509 rs367801509 1 1538 10 1/0 0,255,255 +rs551096082 11 16812214 C T - PLEKHA7 27049 Pleckstrin homology domain containing A7 NM_001329630.1 -1 5532 3816 NP_001316559.1 substitution intron GRCh37 16812214 16812214 Chr11(GRCh37):g.16812214C>T 3052+131 3052+131 NM_001329630.1:c.3052+131G>A p.? p.? 21 21 612686 131 5' 91.9265 X.44 0.997149 X.26 91.9265 X.44 0.997149 X.26 0 rs551096082 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002783 0.000230 0.000000 0.000000 0.000000 0.000000 0.004009 0.005438 0.005102 0.005438 86 2 0 0 0 0 60 19 5 30906 8704 838 302 1620 0 14968 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 2 0 0 0 0 60 19 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.7777778 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . INTRON(MODIFIER||||PLEKHA7|mRNA|CODING|NM_175058|) . . . . . . . 0.0069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000166689 PLEKHA7 PLEKHA7 . . . . . . 73 0.00112349 64976 72 0.00120028 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs551096082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0028 0 0 0 0.0054 0.0040 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs567187477 11 17533664 C T - USH1C 12597 USH1 protein network component harmonin NM_153676.3 -1 3246 2700 NP_710142.1 substitution intron GRCh37 17533664 17533664 Chr11(GRCh37):g.17533664C>T 1261-63 1261-63 NM_153676.3:c.1261-63G>A p.? p.? 16 15 605242 -63 3' 72.9636 3.02016 0.018605 0 72.9636 3.02016 0.018605 0 0 rs567187477 yes no Frequency/1000G 2 C 0.000200 T 1 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001744 0.000229 0.000000 0.000000 0.000617 0.000000 0.003134 0.000000 0.004073 0.003134 54 2 0 0 1 0 47 0 4 30964 8730 838 302 1622 0 14996 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 2 0 0 1 0 47 0 4 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 1.000 2.465 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.65217394 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 1.1234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000006611 USH1C USH1C . . . . . . 35 0.00053866 64976 34 0.000566799 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs567187477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.98 . . . . . . . . . 0.0002 0.0017 0 0 0.0006 0 0.0031 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs56271762 11 17659907 G C - OTOG 8516 Otogelin NM_001277269.1 1 8778 8778 NP_001264198.1 Q6ZRI0 substitution intron GRCh37 17659907 17659907 Chr11(GRCh37):g.17659907G>C 7832-91 7832-91 NM_001277269.1:c.7832-91G>C p.? p.? 47 46 604487 -91 3' 79.7869 XII.26 0.960972 15.4307 79.7869 XII.26 0.960972 15.4307 0 rs56271762 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000000 0.000000 0.001000 0.011900 0.007200 0.007891 0.002638 0.013189 0.046358 0.000617 0.000000 0.011822 0.001718 0.012220 0.046358 244 23 11 14 1 0 177 6 12 30922 8720 834 302 1620 0 14972 3492 982 0.016393 0.000000 0.000000 0.000000 0.000000 0.000000 0.016949 0.000000 0.083333 4 0 0 0 0 0 3 0 1 236 23 11 14 1 0 171 6 10 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G C G>C 0.000 0.205 255 PASS . 0.0046 0.01 . 0.01 . 0.0036 0.0072 0.001 0.012 . . . . . . 0.4090909 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . . . . . . . . 0.0095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.42 0.41 182 ENSG00000188162 OTOG OTOG . . . . . . 898 0.0138205 64976 878 0.0146367 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56271762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0079 0.0132 0.0464 0.0006 0.0017 0.0118 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs56271762 rs56271762 rs56271762 rs56271762 1 1538 10 1/0 0,246,255 +rs151115079 11 18655741 T C - SPTY2D1 26818 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) NM_194285.2 -1 5734 2058 NP_919261.2 Q68D10 substitution splice site GRCh37 18655741 18655741 Chr11(GRCh37):g.18655741T>C 60+4 60+4 NM_194285.2:c.60+4A>G p.? p.? 1 1 4 5' 91.0858 X.17 0.997227 X.03 81.0051 9.39397 0.94233 VIII.34 -0.101603 New Acceptor Site 18655740 5.84041 0.062586 68.2735 rs151115079 yes no Frequency/1000G 2 T 0.000000 0 0.002396 0.000800 0.001000 0.000000 0.006000 0.005800 0.004118 0.001206 0.004648 0.004731 0.000106 0.003963 0.005719 0.000853 0.005262 0.005719 1141 29 160 48 2 122 724 22 34 277096 24038 34420 10146 18870 30782 126586 25792 6462 0.000036 0.000000 0.000058 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 5 0 1 0 0 0 4 0 0 1131 29 158 48 2 122 716 22 34 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4390 12932 44 8 52 0.00512462 0.00181901 0.00400493 0.00512462 0.00181901 0.00400493 186 transition A G A>G 1.000 2.707 255 PASS . 0.0032 0.01 . 0.01 0.0008 0.0024 0.0058 . 0.006 0.001 . . . . . 0.448 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 125.0 . . INTRON(MODIFIER||||SPTY2D1|mRNA|CODING|NM_194285|) 0.0018 0.004 0.0051 0.0018 0.004 0.0051 . II.30 . . . . . . . . 4.301e-03 . . . 0.0014 0.0051 0.0054 0 0.0013 0.0073 0.0084 0.0041 0.0015 0.0044 0.0054 0 0.0014 0.0057 0.0058 0.0041 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.48 0.53 182 ENSG00000179119 SPTY2D1 SPTY2D1 . . . . . . 352 0.00541738 64976 340 0.00566799 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151115079 . . . . . . . . . . . . . . . . . . . . 0.9998 0.888 . 0.004005 . . . . V.61 0.0016 0.0043 0.0045 0.0049 5.798e-05 0.0008 0.0058 0.0060 0.0040 0.0006 0.0030 0.0107 0 0.0006 0.0011 0.0049 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151115079 rs151115079 1 1538 10 1/0 0,245,255 +rs56234898 11 18765648 A G - PTPN5 9657 Protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) NM_006906.1 -1 3135 1698 NP_008837.1 P54829 substitution missense exon GRCh37 18765648 18765648 Chr11(GRCh37):g.18765648A>G 196 196 NM_006906.1:c.196T>C p.Ser66Pro p.Ser66Pro 4 176879 -96 5' 86.4701 9.67503 0.996643 X.54 86.4701 9.67503 0.996643 X.54 0 Protein-tyrosine phosphatase, receptor type R/non-receptor type 5 rs56234898 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.000000 0.000000 0.000000 0.009900 0.010100 0.008018 0.002138 0.002463 0.001591 0.000000 0.002753 0.012992 0.011769 0.006119 0.012992 2186 51 83 16 0 84 1611 302 39 272630 23852 33696 10056 18482 30514 123996 25660 6374 0.000125 0.000000 0.000000 0.000000 0.000000 0.000066 0.000226 0.000156 0.000000 17 0 0 0 0 1 14 2 0 2152 51 83 16 0 82 1583 298 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8475 4384 12859 111 14 125 0.012928 0.00318327 0.00962723 0.012928 0.00318327 0.00962723 109 CM162372 Post burn hypertrophic scarring, decreased severity, association with 26872063 DP COSM4792999|COSM4792999 Liver|Bone 0.000844|0.001757 2371|569 transition T C T>C 0.677 -0.117 S Ser TCA 0.148 P Pro CCA 0.274 66 12 6 Zebrafish -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.2 III.37 bad 2.348E-5 0.0001282 255 PASS . 0.01 0.01 . 0.01 . 0.0034 0.01 . 0.0099 . . . . . . 0.55172414 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.309 . @ . . . . . 1 0.391 . . 87.0 . . . 0.0032 0.0096 0.013 0.0032 0.0096 0.013 . -0.5901 -0.492 -0.590 c . . . . . 7.300e-03 . . . 0.0024 0.0063 0.0016 0 0.0095 0.0107 0.0056 0.0024 0.0024 0.0070 0.0014 0 0.0100 0.0108 0.0101 0.0024 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.057 . . exonic exonic exonic . . 0.098 0.0034 . . . 0.31 0.34 182 ENSG00000110786 PTPN5 PTPN5 . . . 0.002 0.094 . 754 0.0116043 64976 737 0.0122862 59986 Likely_benign . 0 . 0.144 . . . . . . . . . 37 . 0.023 . . 0.396 . . . 0.170 0.251 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.270 . . 0 0 0 0 1 0 . 0.067 . . 0.040 . . . . . . 0 0.155 . . . . . 0.004 . 0.101 . HET 0.11 rs56234898 . . . . . . . 0.005952380952380952 0.0 0.011049723756906077 0.0 0.011873350923482849 0.4364 0.00321 . IV.66 -0.957 . 0.060000 . . . . 0.009627 . 0.316 . . . 0.0020 0.0078 0.0025 0.0016 0 0.0118 0.0128 0.0048 0.0028 0.0023 0.0095 0.0024 0 0 0.0117 0.0145 0.0133 . . 0.609 . -0.033 -0.033000 . . 0.060000 . . 1.0E-255 0.988 0.363 . 0.697 0.722 . 0.273 . 0.627 -0.033 0.591 0.013 rs56234898 rs56234898 rs56234898 rs56234898 1 1538 10 1/0 0,255,255 +rs747887493 11 20409574 G A - PRMT3 30163 Protein arginine methyltransferase 3 NM_005788.3 1 2733 1596 NP_005779.1 O60678 substitution missense exon GRCh37 20409574 20409574 Chr11(GRCh37):g.20409574G>A 38 38 NM_005788.3:c.38G>A p.Gly13Asp p.Gly13Asp 2 603190 10 3' 75.0292 VII.11 0.796487 5.41762 75.0292 VII.11 0.806051 5.75378 0.00400258 rs747887493 yes no Frequency 1 G 0.000000 0 0.000029 0.000042 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 0.000056 8 1 0 0 0 0 7 0 0 276094 23896 34380 10134 18844 30778 125958 25668 6436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.984 0.205 G Gly GGC 0.342 D Asp GAC 0.539 13 11 3 Dog -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 353.86 0.00 Tolerated 0.62 III.48 good 8.242E-1 0.6342 255 PASS . . . . . . . . . . . ENSG00000185238:ENST00000331079:exon2:c.G38A:p.G13D PRMT3:uc001mqb.3:exon2:c.G38A:p.G13D PRMT3:NM_005788:exon2:c.G38A:p.G13D . . 0.5443038 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.551 . @ . . . . . 1 0.540 . . 237.0 . . . . . . . . . . -0.3417 -0.190 -0.342 c . . . . . 1.579e-05 . . . 0 2.269e-05 0 0 0 4.943e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.258 . . exonic exonic exonic . . 0.208 @ . . . . . . ENSG00000185238 PRMT3 PRMT3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.167 0.006 . . 37 . 0.158 . . 0.080 . . . 0.065 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.125 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 6 0.538 . . . . . 0.208 . 0.266 . HET 0.05 rs747887493 . . . . . . . . . . . . VI.05 . . V.68 I.32 . 0.020000 O60678 . . . . . 0.248 . . . 6.589e-05 2.448e-05 0 0 0 0 4.506e-05 0 0 0 6.462e-05 0 0 0 0 0.0001 0 . . 0.091 . 0.720 0.720000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.385 0.165 . 0.384 . 0.713 0.720 0.917 . . . . . 1 1538 10 1/0 0,224,236 +rs61879341 11 22214877 A G - ANO5 27337 Anoctamin 5 NM_213599.2 1 6661 2742 NP_998764.1 Q75V66 substitution 5'UTR GRCh37 22214877 22214877 Chr11(GRCh37):g.22214877A>G -162 -162 NM_213599.2:c.-162A>G p.? p.? 1 608662 -202 5' 84.2838 9.45172 0.889994 8.59004 84.2838 9.45172 0.889994 8.59004 0 rs61879341 yes no Frequency/1000G 2 A uncertain_significance,not_provided 0.000000 0 RCV000128764.1|RCV000359816.1|RCV000298067.1 unknown|germline|germline not provided|clinical testing|clinical testing Not provided|VUS|VUS 0|1|1 not provided|Miyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive transition A G A>G 0.000 -0.521 250 PASS . . . . . . . . . . . . . . . . 0.30769232 . . germline 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . not//\@provided//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance not_provided|Uncertain_significance|Uncertain_significance RCV000128764.1|RCV000298067.1|RCV000359816.1 . MedGen|MedGen|MedGen CN221809|CN239352|CN230453 2 . . . 65.0 . . . . . . . . . . 0.1578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.44 0.44 182 ENSG00000171714 ANO5 ANO5 ENST00000324559:c.-162A>G . . . . . 2549 0.0392299 64976 1965 0.0327576 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61879341 0.011 0.007 . CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000128764.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000128764.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000128764.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . 0.011 rs61879341 rs61879341 rs61879341 . 1 1538 10 1/0 0,255,255 +. 11 22214877 A AAGGAGGAGGGGAATGAGGAGGAGG - ANO5 27337 Anoctamin 5 NM_213599.2 1 6661 2742 NP_998764.1 Q75V66 insertion 5'UTR GRCh37 22214883 22214884 Chr11(GRCh37):g.22214883_22214884insAGGGGAATGAGGAGGAGGAGGAGG -156 -155 NM_213599.2:c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG p.? p.? 1 608662 -195 5' 84.2838 9.45172 0.889994 8.59004 84.2838 9.45172 0.889994 8.59004 0 rs139514865 yes no Frequency/1000G 2 0.000000 0 0.781350 0.934900 0.806700 0.582300 0.791300 0.727700 RCV000337912.1|RCV000408082.1 germline|germline clinical testing|clinical testing Benign|Benign 1|1 Miyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive AGGGGAATGAGGAGGAGGAGGAGG 255 Pass . . . . . . . . . . . . . . . . 0.2 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Benign|Benign RCV000337912.1|RCV000408082.1 . MedGen|MedGen CN230453|CN239352 2 . . . 60 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000171714 ANO5 ANO5 ENST00000324559:c.-162_-161insAGGAGGAGGGGAATGAGGAGGAGG . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139514865 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs139514865 rs139514865 1 1538 10 1.I 0,8,70 +. 11 22387136 T C - SLC17A6 16703 Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 NM_020346.2 1 3925 1749 NP_065079.1 Q9P2U8 substitution synonymous exon GRCh37 22387136 22387136 Chr11(GRCh37):g.22387136T>C 792 792 NM_020346.2:c.792T>C p.Ser264= p.Ser264Ser 7 607563 44 3' 88.589 7.53585 0.625965 3.93321 88.589 7.53585 0.625965 4.24367 0 Major facilitator superfamily Major facilitator superfamily domain transition T C T>C 0.992 -0.037 S Ser TCT 0.185 S Ser TCC 0.220 264 255 PASS . . . . . . . . . . . ENSG00000091664:ENST00000263160:exon7:c.T792C:p.S264S SLC17A6:uc001mqk.3:exon7:c.T792C:p.S264S SLC17A6:NM_020346:exon7:c.T792C:p.S264S . . 0.4765625 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S264|SLC17A6|mRNA|CODING|NM_020346|NM_020346.ex.7) . . . . . . . I.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000091664 SLC17A6 SLC17A6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs2447997 (chr11:27390089 T/C) 11 27390089 T C Transcript NM_018490.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) LGR4 +rs201333718 11 31561287 T C - ELP4 1171 Elongator acetyltransferase complex subunit 4 NM_001288726.1 1 2760 1608 NP_001275655.1 substitution missense exon GRCh37 31561287 31561287 Chr11(GRCh37):g.31561287T>C 338 338 NM_001288726.1:c.338T>C p.Leu113Ser p.Leu113Ser 3 606985 -44 5' 72.656 8.72697 0.616197 0 72.656 8.72697 0.616197 0 0 rs201333718 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.000000 0.016400 0.000000 0.003000 0.001400 0.004646 0.000708 0.002098 0.003057 0.000000 0.015625 0.004915 0.001668 0.003598 0.015625 1282 17 71 31 0 475 622 43 23 275928 23998 33836 10142 18834 30400 126548 25778 6392 0.000043 0.000000 0.000000 0.000000 0.000000 0.000197 0.000047 0.000000 0.000000 6 0 0 0 0 3 3 0 0 1270 17 71 31 0 469 616 43 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8125 3635 11760 33 1 34 0.00404511 0.000275028 0.00288282 0.00404511 0.000275028 0.00288282 165 transition T C T>C 1.000 2.950 L Leu TTG 0.127 S Ser TCG 0.056 113 12 7 Tetraodon -3 -2 -4 0 I.42 4.IX 9.II 111 32 145 C0 235.27 53.41 Deleterious 0.01 3.XI 255 PASS . 0.0009 . . 0.0026 . 0.004 0.0014 . 0.003 0.016 . . . . . 0.375 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.503 . @ . . . . . 1 0.776 . . 32.0 . . . 0.0003 0.0029 0.004 0.0003 0.0029 0.004 . 0.3807 0.372 0.381 c . . . . . 4.938e-03 . . . 0.0005 0.0055 0.0020 0 0.0013 0.0049 0.0028 0.0153 0.0005 0.0049 0.0021 0 0.0017 0.0041 0.0029 0.0153 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.517 . . exonic exonic exonic . . 0.485 0.0040 . . . 0.45 0.39 182 ENSG00000109911 ELP4 ELP4 . . . 0.177 0.178 . 192 0.00295494 64976 172 0.00286734 59986 Uncertain_significance . 0 . 0.477 . . . . . . . . . 37 . 0.591 . . 0.626 . . . 0.670 0.468 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.745 . . 0 0 0 0 0 0 . 0.478 . . 0.532 . . . . . . 0 0.784 . . . . . 0.459 . 0.874 . HET 0 rs201333718 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 X.49 3.41E-4 . V.32 IV.19 . 0.010000 . . . . 0.002883 . 0.519 . . IV.19 0.0006 0.0047 0.0021 0.0028 0 0.0015 0.0048 0.0033 0.0156 0.0009 0.0038 0.0024 0.0099 0 0.0026 0.0061 0.0051 . . 0.609 . 0.961 0.961000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.544 1.000 . 0.589 . 0.635 0.961 0.991 0.004 . . rs201333718 rs201333718 1 1538 10 1/0 0,255,255 +rs75979055 11 33053036 A G - DEPDC7 29899 DEP domain containing 7 NM_001077242.1 1 1755 1536 NP_001070710.1 Q96QD5 substitution missense exon GRCh37 33053036 33053036 Chr11(GRCh37):g.33053036A>G 895 895 NM_001077242.1:c.895A>G p.Lys299Glu p.Lys299Glu 5 612294 -100 5' 95.872 9.66448 0.996526 1.76237 95.872 9.66448 0.996526 1.76237 0 rs75979055 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.002000 0.001400 0.002396 0.000833 0.002063 0.000296 0.000000 0.000162 0.004152 0.000931 0.002322 0.004152 664 20 71 3 0 5 526 24 15 277172 24016 34420 10150 18868 30782 126684 25792 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 664 20 71 3 0 5 526 24 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8178 3721 11899 22 3 25 0.00268293 0.000805585 0.00209661 0.00268293 0.000805585 0.00209661 112 transition A G A>G 1.000 3.030 K Lys AAA 0.425 E Glu GAA 0.417 299 14 13 Tetraodon 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C15 26.00 44.00 Deleterious 0.01 III.57 bad 7.294E-5 8.66E-5 255 PASS . 0.0009 . . 0.0026 . 0.0008 0.0014 . 0.002 0.001 . . . . . 0.4871795 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.829 . @ . . . . . 1 0.979 . . 39.0 . . . 0.0008 0.0021 0.0027 0.0008 0.0021 0.0027 . 0.8008 0.784 0.801 c . . . . . 2.261e-03 . . . 0.0007 0.0020 0.0019 0 0.0008 0.0035 0.0014 0.0002 0.0007 0.0021 0.0019 0 0.0006 0.0034 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.672 . . exonic exonic exonic . . 0.846 0.0008 . . . 0.43 0.36 182 ENSG00000121690 DEPDC7 DEPDC7 . . . 1.000 0.423 . 187 0.00287799 64976 183 0.00305071 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.721 0.074 . . 37 . 0.775 . . 0.785 . . . 0.823 0.520 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.621 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.912 . . . . . 0.418 . 0.807 . HET 0 rs75979055 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 10.163 0.001318 . V.59 V.59 . 0.080000 . . . . 0.002097 . 0.908 . . V.59 0.0007 0.0024 0.0021 0.0002 0 0.0010 0.0042 0.0024 0.0002 0.0010 0.0024 0 0.0033 0 0.0006 0.0039 0.0020 . . 0.428 . 2.132 2.132000 . . 0.080000 . . 1.0E-255 1.000 0.715 . 0.888 0.964 . 0.910 . 0.960 2.132 1.062 0.0027 . . rs75979055 rs75979055 1 1538 10 1/0 0,255,255 +. 11 33612726 ATGGTT A - KIAA1549L 24836 KIAA1549-like NM_012194.2 1 11622 5550 NP_036326.2 Q6ZVL6 deletion intron GRCh37 33612727 33612731 Chr11(GRCh37):g.33612727_33612731del 3676-56 3676-52 NM_012194.2:c.3676-56_3676-52del p.? p.? 11 10 612297 -52 3' 90.205 9.75525 0.971155 9.44847 90.205 9.75525 0.971155 9.14431 0 rs536138898 yes no Frequency/1000G 2 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.004132 0.001946 0.003580 0.003311 0.000000 0.000000 0.006728 0.001146 0.002037 0.006728 128 17 3 1 0 0 101 4 2 30980 8734 838 302 1622 0 15012 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 128 17 3 1 0 0 101 4 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes TGGTT 255 Pass . . . . . . 0.0012 0.0029 . 0.004 . . . . . . 0.5882353 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 51 . . INTRON(MODIFIER||||KIAA1549L|mRNA|CODING|NM_012194|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000110427 KIAA1549L KIAA1549L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536138898 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0041 0.0036 0.0033 0 0.0011 0.0067 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1.I 0,12,23 +rs138681708 11 35454165 A G - PAMR1 24554 Peptidase domain containing associated with muscle regeneration 1 NM_015430.3 -1 3190 2214 NP_056245.2 substitution synonymous exon GRCh37 35454165 35454165 Chr11(GRCh37):g.35454165A>G 1953 1953 NM_015430.3:c.1953T>C p.His651= p.His651His 12 276 3' 80.3723 9.36846 0.940688 7.52087 80.3723 9.36846 0.940688 7.52087 0 Peptidase S1/S6, chymotrypsin/Hap rs138681708 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008000 0.001400 0.005376 0.001000 0.001047 0.002566 0.000000 0.000456 0.008600 0.009869 0.007273 0.009869 1487 24 36 26 0 14 1086 254 47 276580 23998 34386 10132 18862 30730 126274 25736 6462 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 1481 24 36 26 0 14 1082 252 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4402 12927 71 2 73 0.00825966 0.000454133 0.00561538 0.00825966 0.000454133 0.00561538 80 transition T C T>C 0.992 0.125 H His CAT 0.413 H His CAC 0.587 651 255 PASS . 0.0018 0.0028 . 0.004 . 0.0018 0.0014 . 0.008 . . . . . . 0.5590062 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 161.0 . . . 0.0005 0.0056 0.0083 0.0005 0.0056 0.0083 . 0.9891 . . . . . . . . 5.848e-03 . . . 0.0013 0.0041 0.0011 0 0.0114 0.0068 0.0057 0.0005 0.0011 0.0054 0.0011 0 0.0110 0.0087 0.0029 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.19 0.28 182 ENSG00000149090 PAMR1 PAMR1 . . . . . . 402 0.0061869 64976 393 0.00655153 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138681708 . . . . . . . . . . . . . . . . . . . . . . . 0.005615 . . . . . 0.0010 0.0052 0.0010 0.0025 0 0.0101 0.0083 0.0075 0.0005 0.0010 0.0066 0.0012 0.0033 0 0.0083 0.0105 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0083 . . rs138681708 rs138681708 1 1538 10 1/0 0,239,245 +rs138242314 11 45955752 T C - PHF21A 24156 PHD finger protein 21A NM_001352025.1 -1 7462 2046 NP_001338954.1 substitution missense exon GRCh37 45955752 45955752 Chr11(GRCh37):g.45955752T>C 1813 1813 NM_001352025.1:c.1813A>G p.Ile605Val p.Ile605Val 19 608325 25 3' 84.2017 8.77997 0.825505 9.67715 84.2017 8.77997 0.825505 9.94092 0 Cryptic Acceptor Strongly Activated 45955737 5.95696 0.002803 76.531 6.99168 0.004894 76.531 rs138242314 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001461 0.000541 0.000320 0.000099 0.000000 0.000650 0.002616 0.000865 0.000930 0.002616 404 13 11 1 0 20 331 22 6 276616 24028 34404 10136 18868 30778 126508 25440 6454 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 400 13 11 1 0 20 327 22 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4401 12980 19 3 22 0.00220982 0.000681199 0.00169205 0.00220982 0.000681199 0.00169205 98 transition A G A>G 1.000 3.434 I Ile ATC 0.481 V Val GTC 0.240 605 12 11 Tetraodon 3 3 4 0 0 5.II 5.IX 111 84 29 C0 28.68 0.00 Tolerated 0.28 III.78 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 . . . . . 0.4047619 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.416 . @ . . . . . 1 0.423 . . 84.0 . . . 0.0007 0.0017 0.0022 0.0007 0.0017 0.0022 . 0.2508 0.387 0.251 c . . . . . 1.768e-03 . . . 0.0009 0.0013 0.0003 0 0.0008 0.0021 0 0.0007 0.0010 0.0017 0.0004 0 0.0006 0.0028 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.571 . . exonic exonic exonic . . 0.914 0.0006 . . . 0.64 0.52 182 ENSG00000135365 PHF21A PHF21A . . . 1.000 0.747 . 120 0.00184684 64976 117 0.00195046 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.340 0.014 . . 37 . 0.524 . . 0.496 . . . 0.235 0.537 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.358 . . 0.450 . . . . . . 0 0.272 . . . . . 0.809 . 0.485 . HET 0.2 rs138242314 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 16.098 5.35E-4 . V.78 V.78 . 0.220000 . . . . 0.001692 . 0.726 . . V.78 0.0006 0.0014 0.0003 0.0001 0 0.0009 0.0026 0.0009 0.0006 0.0005 0.0016 0 0 0 0.0006 0.0028 0.0010 . . 0.854 . 2.210 2.210000 . . 0.220000 . . 1.0E-255 1.000 0.715 . 0.697 0.995 . 0.713 . 0.807 2.210 0.991 0.0026 . . rs138242314 rs138242314 1 1538 10 1/0 0,255,255 +rs185310252 11 46400099 C T - DGKZ 2857 Diacylglycerol kinase, zeta 104kDa NM_001105540.1 1 4086 3354 NP_001099010.1 Q13574 substitution intron GRCh37 46400099 46400099 Chr11(GRCh37):g.46400099C>T 2982+49 2982+49 NM_001105540.1:c.2982+49C>T p.? p.? 28 28 601441 49 5' 71.1864 VII.39 0.856389 8.75301 71.1864 VII.39 0.856389 8.60704 0 rs185310252 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.001554 0.000587 0.001368 0.000000 0.000000 0.001823 0.002311 0.000389 0.001712 0.002311 428 14 47 0 0 56 290 10 11 275396 23854 34362 10086 18800 30714 125464 25690 6426 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 428 14 47 0 0 56 290 10 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4394 12970 22 4 26 0.00255873 0.000909504 0.00200062 0.00255873 0.000909504 0.00200062 42 transition C T C>T 0.000 -0.037 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.001 0.001 . DGKZ:uc010rgq.2:exon26:c.C2413T:p.L805L . . . 0.58870965 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . 0.0009 0.002 0.0026 0.0009 0.002 0.0026 . 1.0889 . . . . . . . . 1.554e-03 . . . 0.0011 0.0017 0.0013 0 0.0003 0.0021 0 0.0022 0.0013 0.0017 0.0014 0 0.0005 0.0021 0 0.0022 . synonymous_SNV . . . . intronic exonic intronic . . . 0.0004 . . . 0.37 0.05 182 ENSG00000149091 DGKZ DGKZ . . . . . . 96 0.00147747 64976 94 0.00156703 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs185310252 . . . . . . . . . . . . . . . . . . . . . . . 0.002001 . . . . . 0.0007 0.0015 0.0013 0 0 0.0003 0.0022 0.0020 0.0018 0.0003 0.0019 0.0036 0 0 0.0009 0.0033 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs185310252 rs185310252 1 1538 10 1/0 0,255,255 +rs11570107 11 47356558 T C - MYBPC3 7551 Myosin binding protein C, cardiac NM_000256.3 -1 4217 3825 NP_000247.2 Q14896 substitution intron GRCh37 47356558 47356558 Chr11(GRCh37):g.47356558T>C 2905+35 2905+35 NM_000256.3:c.2905+35A>G p.? p.? 27 27 600958 35 5' 69.2378 7.55301 0.926597 8.59212 69.2378 7.55301 0.926597 8.74162 0 Cryptic Acceptor Weakly Activated 47356545 5.31235 0.180512 77.7155 5.61476 0.207579 77.8084 rs11570107 yes no Frequency/HapMap/1000G 3 T 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.002202 0.000796 0.002145 0.000000 0.000000 0.001874 0.003577 0.000469 0.001700 0.003577 343 14 37 0 0 24 253 9 6 155744 17586 17246 3456 11184 12810 70736 19196 3530 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 343 14 37 0 0 24 253 9 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8238 3903 12141 18 3 21 0.00218023 0.000768049 0.00172669 0.00218023 0.000768049 0.00172669 18 transition A G A>G 0.000 0.367 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.4181818 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . 0.0008 0.0017 0.0022 0.0008 0.0017 0.0022 . 0.2256 . . . . . . . . 1.787e-03 . . . 0.0018 0.0027 0.0022 0 0.0006 0.0040 0 0.0018 0.0018 0.0029 0.0024 0 0.0008 0.0042 0.0028 0.0018 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.41 0.23 182 ENSG00000134571 MYBPC3 MYBPC3 . . . . . . 109 0.00167754 64976 104 0.00173374 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 10 . . . . . . . . . . HET . rs11570107 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.001727 . . . . . 0.0014 0.0023 0.0020 0 0 0.0003 0.0037 0.0024 0.0019 0.0002 0.0019 0.0060 0 0 0.0011 0.0031 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs11570107 rs11570107 rs11570107 rs11570107 1 1538 10 1/0 0,248,255 +rs78476140 (chr11:47640349 G/A) 11 47640349 G A Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs77215521 (chr11:47640350 G/A) 11 47640350 G A Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs76999459 (chr11:47640355 C/T) 11 47640355 C T Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs76315325 (chr11:47640367 T/A) 11 47640367 T A Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs73465610 (chr11:47640398 T/C) 11 47640398 T C Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs76666113 (chr11:47647265 A/G) 11 47647265 A G Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +. (chr11:47647285 C/G) 11 47647285 C G Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +rs72909899 (chr11:47663996 C/T) 11 47663996 C T Sequence discrepancies in MTCH2 transcript(s): NM_001317231.1 MTCH2 +. (chr11:49854989 C/T) 11 49854989 C T Not on a known gene +rs74825677 11 56143256 A G - OR8U1 19611 Olfactory receptor, family 8, subfamily U, member 1 NM_001005204.1 1 930 930 NP_001005204.1 Q8NH10 substitution missense exon GRCh37 56143256 56143256 Chr11(GRCh37):g.56143256A>G 157 157 NM_001005204.1:c.157A>G p.Thr53Ala p.Thr53Ala 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs74825677 yes no Frequency 1 A 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000041 0.000000 0.000000 0.000041 3 0 0 0 0 0 3 0 0 171242 8136 25022 8524 11226 24166 72792 17380 3996 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 290 Exomes COSM4601028 Upper aerodigestive tract 0.001608 1244 transition A G A>G 0.000 -0.924 T Thr ACA 0.280 A Ala GCA 0.226 53 10 2 Chimp 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 130.02 0.00 Tolerated 1 IV.32 good 5.704E-1 0.1427 222 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.A157G:p.T53A OR8U8:uc001nit.2:exon1:c.A157G:p.T53A OR8U1:NM_001005204:exon1:c.A157G:p.T53A . . 0.2195122 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.019 . . 82.0 . . . . . . . . . . -2.0603 -2.029 -2.060 c . . . . . 2.389e-05 . . . . . . . . . . . 0 5.424e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.018 @ . . . 0.16 0.13 182 ENSG00000172199 OR8U8 . . . . 0.009 0.117 . . . . . . . Uncertain_significance . 0 . 0.094 . . . . T 0.059 0.003 . . 37 . 0.005 . . 0.467 . . . 0.016 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.302 . . . . . 0.067 . 0.236 . HET 0.13 rs74825677 . . . . . . . . . . . . III.04 . ENST00000302270 V.78 -6.39 . 0.110000 Q8NH10 . . . . . 0.067 . . . 0 1.752e-05 0 0 0 0 4.121e-05 0 0 . . . . . . . . . . 0.133 . -0.777 -0.777000 . . 0.110000 . . 1.0E-222 0.000 0.063 . 0.095 0.006 . 0.077 . 0.017 -0.777 -1.594 . . . rs74825677 rs74825677 1 1538 10 1/0 0,246,255 +rs74825677 11 56143256 A G - OR8U8 27538 Olfactory receptor, family 8, subfamily U, member 8 NM_001013356.1 1 960 960 NP_001013374.1 P0C7N1 substitution missense exon GRCh37 56143256 56143256 Chr11(GRCh37):g.56143256A>G 157 157 NM_001013356.1:c.157A>G p.Thr53Ala p.Thr53Ala 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs74825677 yes no Frequency 1 A 0.000000 0 0.000018 0.000000 0.000000 0.000000 0.000000 0.000000 0.000041 0.000000 0.000000 0.000041 3 0 0 0 0 0 3 0 0 171242 8136 25022 8524 11226 24166 72792 17380 3996 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 290 Exomes COSM4601028 Upper aerodigestive tract 0.001608 1244 transition A G A>G 0.000 -0.924 T Thr ACA 0.280 A Ala GCA 0.226 53 7 3 Gorilla 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 215.31 8.IX Tolerated 0.08 IV.32 bad 9.12E-5 0.0001286 222 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.A157G:p.T53A OR8U8:uc001nit.2:exon1:c.A157G:p.T53A OR8U1:NM_001005204:exon1:c.A157G:p.T53A . . 0.2195122 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.019 . . 82.0 . . . . . . . . . . -2.0603 -2.029 -2.060 c . . . . . 2.389e-05 . . . . . . . . . . . 0 5.424e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.018 @ . . . 0.16 0.13 182 ENSG00000172199 OR8U8 . . . . 0.009 0.117 . . . . . . . Uncertain_significance . 0 . 0.094 . . . . T 0.059 0.003 . . 37 . 0.005 . . 0.467 . . . 0.016 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.070 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.302 . . . . . 0.067 . 0.236 . HET 0.13 rs74825677 . . . . . . . . . . . . III.04 . ENST00000302270 V.78 -6.39 . 0.110000 Q8NH10 . . . . . 0.067 . . . 0 1.752e-05 0 0 0 0 4.121e-05 0 0 . . . . . . . . . . 0.133 . -0.777 -0.777000 . . 0.110000 . . 1.0E-222 0.000 0.063 . 0.095 0.006 . 0.077 . 0.017 -0.777 -1.594 . . . rs74825677 rs74825677 1 1538 10 1/0 0,246,255 +rs74825677 (chr11:56143256 A/G) 11 56143256 A G Transcript NM_001013357.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) OR8U9 +rs75727721 11 56143260 G A - OR8U1 19611 Olfactory receptor, family 8, subfamily U, member 1 NM_001005204.1 1 930 930 NP_001005204.1 Q8NH10 substitution missense exon GRCh37 56143260 56143260 Chr11(GRCh37):g.56143260G>A 161 161 NM_001005204.1:c.161G>A p.Ser54Asn p.Ser54Asn 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs75727721 no no 0 G 0.000000 0 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000011 0.000049 0.000000 0.000049 2 0 0 0 0 0 1 1 0 201724 16726 26654 8734 13060 23986 87040 20574 4950 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145832|COSM4145832 Upper aerodigestive tract|Thyroid 0.001608|0.001339 1244|747 transition G A G>A 0.000 -0.198 S Ser AGT 0.149 N Asn AAT 0.464 54 10 2 Chimp 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 124.29 IV.86 Tolerated 0.06 IV.32 bad 4.348E-3 0.005988 223 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.G161A:p.S54N OR8U8:uc001nit.2:exon1:c.G161A:p.S54N OR8U1:NM_001005204:exon1:c.G161A:p.S54N . . 0.22222222 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.066 . . 81.0 . . . . . . . . . . -1.5003 -1.460 -1.500 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.135 @ . . . 0.15 0.05 182 ENSG00000172199 OR8U8 . . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.049 0.002 . . 37 . 0.005 . . 0.472 . . . 0.137 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.090 . . 0.139 . . . . . . 0 0.457 . . . . . 0.298 . 0.336 . HET 0 rs75727721 . . . . . . . . . . . . 8.099 . ENST00000302270 V.78 0.0477 . 0.030000 Q8NH10 . . . . . 0.073 . . . 0 5.823e-06 0 0 0 5.832e-05 0 0 0 0 3.335e-05 0 0 0 0 6.98e-05 0 . . 0.133 . 0.291 0.291000 . . 0.030000 . . 1.0E-223 0.000 0.063 . 0.163 0.038 . 0.047 . 0.068 0.291 -0.401 . . . rs75727721 rs75727721 1 1538 10 1/0 0,246,255 +rs75727721 11 56143260 G A - OR8U8 27538 Olfactory receptor, family 8, subfamily U, member 8 NM_001013356.1 1 960 960 NP_001013374.1 P0C7N1 substitution missense exon GRCh37 56143260 56143260 Chr11(GRCh37):g.56143260G>A 161 161 NM_001013356.1:c.161G>A p.Ser54Asn p.Ser54Asn 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs75727721 no no 0 G 0.000000 0 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000011 0.000049 0.000000 0.000049 2 0 0 0 0 0 1 1 0 201724 16726 26654 8734 13060 23986 87040 20574 4950 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4145832|COSM4145832 Upper aerodigestive tract|Thyroid 0.001608|0.001339 1244|747 transition G A G>A 0.000 -0.198 S Ser AGT 0.149 N Asn AAT 0.464 54 7 3 Gorilla 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 242.22 17.80 Tolerated 0.32 IV.32 bad 6.756E-4 0.001533 223 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.G161A:p.S54N OR8U8:uc001nit.2:exon1:c.G161A:p.S54N OR8U1:NM_001005204:exon1:c.G161A:p.S54N . . 0.22222222 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.072 . @ . . . . . 1 0.066 . . 81.0 . . . . . . . . . . -1.5003 -1.460 -1.500 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.135 @ . . . 0.15 0.05 182 ENSG00000172199 OR8U8 . . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.049 0.002 . . 37 . 0.005 . . 0.472 . . . 0.137 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.023 . . 0 0 0 0 0 0 . 0.090 . . 0.139 . . . . . . 0 0.457 . . . . . 0.298 . 0.336 . HET 0 rs75727721 . . . . . . . . . . . . 8.099 . ENST00000302270 V.78 0.0477 . 0.030000 Q8NH10 . . . . . 0.073 . . . 0 5.823e-06 0 0 0 5.832e-05 0 0 0 0 3.335e-05 0 0 0 0 6.98e-05 0 . . 0.133 . 0.291 0.291000 . . 0.030000 . . 1.0E-223 0.000 0.063 . 0.163 0.038 . 0.047 . 0.068 0.291 -0.401 . . . rs75727721 rs75727721 1 1538 10 1/0 0,246,255 +rs75727721 (chr11:56143260 G/A) 11 56143260 G A Transcript NM_001013357.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) OR8U9 +rs199607712 11 56143261 T A - OR8U1 19611 Olfactory receptor, family 8, subfamily U, member 1 NM_001005204.1 1 930 930 NP_001005204.1 Q8NH10 substitution missense exon GRCh37 56143261 56143261 Chr11(GRCh37):g.56143261T>A 162 162 NM_001005204.1:c.162T>A p.Ser54Arg p.Ser54Arg 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs199607712 no no 0 T 0.000000 0 COSM4145833|COSM4145833|COSM4145833 Upper aerodigestive tract|Thyroid|Large intestine 0.001608|0.001339|0.000448 1244|747|2231 transversion T A T>A 0.000 -0.360 S Ser AGT 0.149 R Arg AGA 0.205 54 10 2 Chimp -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 124.29 0.00 Tolerated 1 IV.32 good 9.913E-1 0.005988 220 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.T162A:p.S54R OR8U8:uc001nit.2:exon1:c.T162A:p.S54R OR8U1:NM_001005204:exon1:c.T162A:p.S54R . . 0.21518987 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.001 . . 79.0 . . . . . . . . . . -2.0891 -1.967 -2.089 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.050 @ . . . 0.14 0.1 182 ENSG00000172199 OR8U8 . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.015 0.001 . . 37 . 0.002 . . 0.455 . . . 0.010 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.002 . 0.437 . HET 1 rs199607712 . . . . . . . . . . . . 0.2744 . ENST00000302270 V.78 -3.07 . 1.000000 Q8NH10 . . . . . 0.058 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.105 -0.105000 . . 1.000000 . . 1.0E-220 0.000 0.063 . 0.172 0.109 . 0.056 . 0.037 -0.105 -0.503 . . . rs199607712 rs199607712 1 1538 10 1/0 0,247,255 +rs199607712 11 56143261 T A - OR8U8 27538 Olfactory receptor, family 8, subfamily U, member 8 NM_001013356.1 1 960 960 NP_001013374.1 P0C7N1 substitution missense exon GRCh37 56143261 56143261 Chr11(GRCh37):g.56143261T>A 162 162 NM_001013356.1:c.162T>A p.Ser54Arg p.Ser54Arg 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs199607712 no no 0 T 0.000000 0 COSM4145833|COSM4145833|COSM4145833 Upper aerodigestive tract|Thyroid|Large intestine 0.001608|0.001339|0.000448 1244|747|2231 transversion T A T>A 0.000 -0.360 S Ser AGT 0.149 R Arg AGA 0.205 54 7 3 Gorilla -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 242.22 0.00 Tolerated 1 IV.32 good 9.844E-1 0.001533 220 PASS . . . . . . . . . . . ENSG00000172199:ENST00000302270:exon1:c.T162A:p.S54R OR8U8:uc001nit.2:exon1:c.T162A:p.S54R OR8U1:NM_001005204:exon1:c.T162A:p.S54R . . 0.21518987 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.001 . . 79.0 . . . . . . . . . . -2.0891 -1.967 -2.089 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.050 @ . . . 0.14 0.1 182 ENSG00000172199 OR8U8 . . . . 0.000 0.058 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.015 0.001 . . 37 . 0.002 . . 0.455 . . . 0.010 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.002 . 0.437 . HET 1 rs199607712 . . . . . . . . . . . . 0.2744 . ENST00000302270 V.78 -3.07 . 1.000000 Q8NH10 . . . . . 0.058 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.105 -0.105000 . . 1.000000 . . 1.0E-220 0.000 0.063 . 0.172 0.109 . 0.056 . 0.037 -0.105 -0.503 . . . rs199607712 rs199607712 1 1538 10 1/0 0,247,255 +rs199607712 (chr11:56143261 T/A) 11 56143261 T A Transcript NM_001013357.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) OR8U9 +rs2852415 11 56344377 A G - OR5M10 15290 Olfactory receptor, family 5, subfamily M, member 10 NM_001004741.1 -1 948 948 NP_001004741.1 Q6IEU7 substitution missense exon GRCh37 56344377 56344377 Chr11(GRCh37):g.56344377A>G 821 821 NM_001004741.1:c.821T>C p.Ile274Thr p.Ile274Thr 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs2852415 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000787 0.000625 0.000262 0.000099 0.000053 0.000552 0.001216 0.000659 0.000619 0.001216 218 15 9 1 1 17 154 17 4 277128 23984 34416 10152 18866 30774 126690 25786 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 218 15 9 1 1 17 154 17 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 1.658 I Ile ATT 0.356 T Thr ACT 0.243 274 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 249 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . ENSG00000254834:ENST00000526812:exon1:c.T821C:p.I274T OR5M10:uc001niz.1:exon1:c.T821C:p.I274T OR5M10:NM_001004741:exon1:c.T821C:p.I274T . . 0.30645162 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.087 . @ . . . . . 1 0.093 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I274T|OR5M10|mRNA|CODING|NM_001004741|NM_001004741.ex.1) . . . . . . . -1.0480 -1.036 -1.048 c . . . . . 9.527e-04 . . . 0.0008 0.0008 0.0003 0 0.0011 0.0010 0.0014 0.0007 0.0008 0.0009 0.0002 0.0001 0.0009 0.0012 0.0014 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.411 . . exonic exonic exonic . . 0.342 0.0004 . . . 0.27 0.34 182 ENSG00000254834 OR5M10 OR5M10 . . . 0.000 0.035 . 46 0.000707954 64976 44 0.000733504 59986 Uncertain_significance . 0 . . . . . . T 0.188 0.007 . . 37 . 0.268 . . 0.217 . . . 0.235 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.574 . . 0 0 0 0 0 0 . 0.179 . . 0.214 . . . . . . 0 0.301 . . . . . 0.356 . 0.218 . HET . rs2852415 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 9.0962 0.0 ENST00000526812 4.II 3.VI . 0.140000 Q6IEU7 . . . . . 0.126 . . 3.VI 0.0007 0.0008 0.0002 0.0001 5.798e-05 0.0007 0.0012 0.0005 0.0006 0.0006 0.0009 0.0012 0 0 0.0003 0.0013 0.0010 . . 0.133 . 0.744 0.744000 . . 0.140000 . . 1.0E-249 0.000 0.063 . 0.016 0.276 . 0.201 . 0.044 0.744 0.083 0.0013 rs2852415 rs2852415 rs2852415 rs2852415 1 1538 10 1/0 0,255,255 +rs77393388 11 56467759 C A - OR9G1 15319 Olfactory receptor, family 9, subfamily G, member 1 NM_001005213.1 1 918 918 NP_001005213.1 Q8NH87 substitution upstream GRCh37 56467759 56467759 Chr11(GRCh37):g.56467759C>A -105 -105 NM_001005213.1:c.-105C>A p.? p.? 1 rs77393388 yes no Frequency/1000G 2 C 0.000000 0 transversion C A C>A 0.000 0.448 224 PASS . . . . . . . . . . . . . . . . 0.2264151 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . 0.0556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . 0.0008 . . . 0.38 0.19 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77393388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs77393388 rs77393388 1 1538 10 1/0 0,255,255 +rs77393388 11 56467759 C A - OR9G9 31940 Olfactory receptor, family 9, subfamily G, member 9 NM_001013358.2 1 918 918 NP_001013376.2 P0C7N8 substitution upstream GRCh37 56467759 56467759 Chr11(GRCh37):g.56467759C>A -105 -105 NM_001013358.2:c.-105C>A p.? p.? 1 rs77393388 yes no Frequency/1000G 2 C 0.000000 0 transversion C A C>A 0.000 0.448 224 PASS . . . . . . . . . . . . . . . . 0.2264151 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . . . . . . . . . 0.0556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . 0.0008 . . . 0.38 0.19 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77393388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs77393388 rs77393388 1 1538 10 1/0 0,255,255 +rs79740513 11 56467760 G A - OR9G1 15319 Olfactory receptor, family 9, subfamily G, member 1 NM_001005213.1 1 918 918 NP_001005213.1 Q8NH87 substitution upstream GRCh37 56467760 56467760 Chr11(GRCh37):g.56467760G>A -104 -104 NM_001005213.1:c.-104G>A p.? p.? 1 rs79740513 yes no Frequency/1000G 2 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000617 0.000000 0.000000 0.000000 0.000000 0.000617 1 0 0 0 1 0 0 0 0 30044 8716 814 258 1622 0 14210 3490 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transition G A G>A 0.000 0.205 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . 0.1034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . 0.0002 . . . 0.42 0.24 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79740513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.328e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs79740513 rs79740513 1 1538 10 1/0 0,255,255 +rs79740513 11 56467760 G A - OR9G9 31940 Olfactory receptor, family 9, subfamily G, member 9 NM_001013358.2 1 918 918 NP_001013376.2 P0C7N8 substitution upstream GRCh37 56467760 56467760 Chr11(GRCh37):g.56467760G>A -104 -104 NM_001013358.2:c.-104G>A p.? p.? 1 rs79740513 yes no Frequency/1000G 2 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000617 0.000000 0.000000 0.000000 0.000000 0.000617 1 0 0 0 1 0 0 0 0 30044 8716 814 258 1622 0 14210 3490 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transition G A G>A 0.000 0.205 200 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . . . . . . . . . 0.1034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . 0.0002 . . . 0.42 0.24 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79740513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.328e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs79740513 rs79740513 1 1538 10 1/0 0,255,255 +rs76620500 11 56467761 A G - OR9G1 15319 Olfactory receptor, family 9, subfamily G, member 1 NM_001005213.1 1 918 918 NP_001005213.1 Q8NH87 substitution upstream GRCh37 56467761 56467761 Chr11(GRCh37):g.56467761A>G -103 -103 NM_001005213.1:c.-103A>G p.? p.? 1 rs76620500 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.763 215 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . . . . . . . . . -0.1417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . @ . . . 0.38 0.27 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76620500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . rs76620500 rs76620500 1 1538 10 1/0 0,255,255 +rs76620500 11 56467761 A G - OR9G9 31940 Olfactory receptor, family 9, subfamily G, member 9 NM_001013358.2 1 918 918 NP_001013376.2 P0C7N8 substitution upstream GRCh37 56467761 56467761 Chr11(GRCh37):g.56467761A>G -103 -103 NM_001013358.2:c.-103A>G p.? p.? 1 rs76620500 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.763 215 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 55.0 . . . . . . . . . . -0.1417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . @ . . . 0.38 0.27 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76620500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . rs76620500 rs76620500 1 1538 10 1/0 0,255,255 +rs75599799 11 56467763 A T - OR9G1 15319 Olfactory receptor, family 9, subfamily G, member 1 NM_001005213.1 1 918 918 NP_001005213.1 Q8NH87 substitution upstream GRCh37 56467763 56467763 Chr11(GRCh37):g.56467763A>T -101 -101 NM_001005213.1:c.-101A>T p.? p.? 1 rs75599799 no no 0 T 0.000000 0 transversion A T A>T 0.000 -2.619 216 PASS . . . . . . . . . . . . . . . . 0.20338982 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 59.0 . . . . . . . . . . -0.5134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . @ . . . 0.4 0.26 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75599799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs75599799 rs75599799 1 1538 10 1/0 0,255,255 +rs75599799 11 56467763 A T - OR9G9 31940 Olfactory receptor, family 9, subfamily G, member 9 NM_001013358.2 1 918 918 NP_001013376.2 P0C7N8 substitution upstream GRCh37 56467763 56467763 Chr11(GRCh37):g.56467763A>T -101 -101 NM_001013358.2:c.-101A>T p.? p.? 1 rs75599799 no no 0 T 0.000000 0 transversion A T A>T 0.000 -2.619 216 PASS . . . . . . . . . . . . . . . . 0.20338982 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 59.0 . . . . . . . . . . -0.5134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream intronic upstream . . . @ . . . 0.4 0.26 182 ENSG00000174914 OR8U8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75599799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs75599799 rs75599799 1 1538 10 1/0 0,255,255 +rs145067883 11 60636698 G A - ZP1 13187 Zona pellucida glycoprotein 1 (sperm receptor) NM_207341.3 1 1972 1917 NP_997224.2 P60852 substitution missense exon GRCh37 60636698 60636698 Chr11(GRCh37):g.60636698G>A 277 277 NM_207341.3:c.277G>A p.Val93Ile p.Val93Ile 2 195000 -42 5' 84.5939 VIII.53 0.69482 7.77499 84.5939 VIII.53 0.69482 7.87877 0 rs145067883 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.003100 0.000000 0.003000 0.000000 0.006220 0.001124 0.000930 0.007785 0.000053 0.005913 0.007445 0.015936 0.007580 0.015936 1724 27 32 79 1 182 943 411 49 277158 24022 34420 10148 18866 30780 126668 25790 6464 0.000051 0.000000 0.000000 0.000197 0.000000 0.000065 0.000032 0.000233 0.000000 7 0 0 1 0 1 2 3 0 1710 27 32 77 1 180 939 405 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4401 12944 55 5 60 0.00639684 0.00113482 0.00461396 0.00639684 0.00113482 0.00461396 53 transition G A G>A 0.213 0.205 V Val GTC 0.240 I Ile ATC 0.481 93 12 7 Mouse 3 3 4 0 0 5.IX 5.II 84 111 29 C0 256.10 0.00 Tolerated 0.57 3.IV 255 PASS . 0.0014 . . 0.004 . 0.0012 . . 0.003 0.0031 ENSG00000149506:ENST00000278853:exon2:c.G277A:p.V93I ZP1:uc001nqd.3:exon2:c.G277A:p.V93I ZP1:NM_207341:exon2:c.G277A:p.V93I . . 0.38709676 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.303 . @ . . . . . 1 0.828 . . 93.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V93I|ZP1|mRNA|CODING|NM_207341|NM_207341.ex.2) 0.0011 0.0046 0.0064 0.0011 0.0046 0.0064 . -0.4914 -0.477 -0.491 c . . . . . 6.093e-03 . . . 0.0010 0.0044 0.0010 0 0.0116 0.0059 0.0070 0.0051 0.0010 0.0058 0.0011 0 0.0132 0.0077 0.0072 0.0051 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.263 0.0012 . . . 0.27 0.32 182 ENSG00000149506 ZP1 ZP1 . . . 0.952 0.279 . 378 0.00581753 64976 372 0.00620145 59986 Uncertain_significance . 0 . 0.361 . . . . . . . . . 37 . 0.167 . . 0.174 . . . 0.225 0.182 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.156 . . 0 0 0 0 0 0 . 0.239 . . 0.158 . . . . . . 0 0.326 . . . . . 0.089 . 0.228 . HET 0.23 rs145067883 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 III.81 0.001605 ENST00000278853 4.VIII II.13 . 0.040000 P60852 . . Name\x3dnsv897598 0.004614 . 0.168 . . II.13 0.0011 0.0061 0.0009 0.0075 5.798e-05 0.0158 0.0073 0.0064 0.0059 0.0011 0.0069 0.0024 0.0166 0 0.0166 0.0084 0.0143 . . 0.133 . 0.922 0.922000 . . 0.040000 . . 1.0E-255 0.271 0.248 . 0.244 0.242 . 0.221 . 0.334 0.922 0.917 0.0064 . . rs145067883 rs145067883 1 1538 10 1/0 0,255,255 +rs200123055 11 61643674 C T - FADS3 3576 Fatty acid desaturase 3 NM_021727.4 -1 1793 1338 NP_068373.1 Q9Y5Q0 substitution intron GRCh37 61643674 61643674 Chr11(GRCh37):g.61643674C>T 1081-12 1081-12 NM_021727.4:c.1081-12G>A p.? p.? 10 9 606150 -12 3' 72.7675 6.02102 0.06756 5.96583 0 1.10736 0.064365 1.73958 -0.621125 New Acceptor Site 61643672 4.90981 0.148754 72.5162 rs200123055 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 202878 11418 29034 9008 14332 27512 88820 18046 4708 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 91 Exomes transition G A G>A 0.000 -1.005 255 PASS 0.002 0.0005 . . . 0.0008 0.0002 . . . . . . . . . 0.5 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . 0.1073 . . . . . . . . 1.589e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.39 0.17 182 ENSG00000221968 FADS3 FADS3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200123055 . . . . . . . . . . . . . . . . . . . . 0.9946 0.938 . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs200123055 rs200123055 1 1538 10 1/0 0,255,255 +rs777594256 11 61735080 G T - FTH1 3976 Ferritin, heavy polypeptide 1 NM_002032.2 -1 1229 552 NP_002023.2 P02794 substitution 5'UTR GRCh37 61735080 61735080 Chr11(GRCh37):g.61735080G>T -183 -183 NM_002032.2:c.-183C>A p.? p.? 1 134770 -297 5' 81.0413 8.27203 0.981023 XII.93 81.0413 8.27203 0.981023 XII.93 0 rs777594256 yes no Frequency 1 G 0.000000 0 0.000934 0.000076 0.000086 0.000265 0.000090 0.000047 0.002175 0.000764 0.000000 0.002175 135 1 2 2 1 1 122 6 0 144574 13122 23342 7540 11050 21398 56086 7850 4186 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 135 1 2 2 1 1 122 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 1.000 1.174 255 PASS . . . . . . . . . . . . . . . . 0.33519554 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . -0.0340 . . . . . . . . 7.245e-03 . . . 0.0208 0.0088 0.0114 0 . 0.0124 0 0.0075 0.0213 0.0087 0.0116 0.0078 . 0.0118 0 0.0075 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000167996 FTH1 FTH1 . uc001nsu.3:c.-183C>A NM_002032:c.-183C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs777594256 0.011 0.007 . . . . . . . . . . II.95 . ENST00000406545 IV.85 III.67 . 1.000000 . . . Name\x3dnsv897617 . . . . . III.67 0 0.0011 4.412e-05 0.0003 0.0001 0.0004 0.0028 0 4.673e-05 0.0001 0.0003 0.0015 0 0 0.0014 7.35e-05 0 . . . . 2.366 2.366000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 2.366 . 0.011 . . . . 1 1538 10 1/0 0,223,255 +. 11 62383715 GA G - B3GAT3 923 Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) NM_012200.3 -1 1641 1008 NP_036332.2 O94766 deletion intron GRCh37 62383716 62383716 Chr11(GRCh37):g.62383716del 909+262 909+262 NM_012200.3:c.909+262del p.? p.? 4 4 606374 262 5' 86.0205 10.169 0.990824 8.22936 86.0205 10.169 0.990824 8.22936 0 rs35002433 yes no Frequency 1 A 0.000000 0 0.003277 0.003367 0.003604 0.003361 0.000894 0.002647 0.003905 0.001939 0.005796 0.003905 213 39 32 4 7 13 102 5 11 64990 11582 8878 1190 7832 4912 26120 2578 1898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 1 0 3 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.1625 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 80 . . . . . . . . . . . . . . . . . . . 1.838e-03 . . . 0 0.0278 0 0 . 0.0435 . 0.0625 0 0.0256 0 0 . 0.0417 . 0.0625 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000149541 B3GAT3 B3GAT3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35002433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0097 0.0050 0.0039 0.0044 0.0010 0.0024 0.0070 0.0078 0.0026 0.0003 0.0006 0 0 0.0006 0.0019 0.0006 0.0027 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35002433 rs35002433 rs35002433 rs35002433 1 1538 10 1.I 0,6,79 +. 11 62383715 GA G - ROM1 10254 Retinal outer segment membrane protein 1 NM_000327.3 1 1878 1056 NP_000318.1 Q03395 deletion downstream GRCh37 62383730 62383730 Chr11(GRCh37):g.62383730del *1419 *1419 NM_000327.3:c.*1419del p.? p.? 3 180721 1638 3' 86.7835 XI.22 0.981928 14.2901 86.7835 XI.22 0.981928 14.2901 0 rs35002433 yes no Frequency 1 A 0.000000 0 0.003277 0.003367 0.003604 0.003361 0.000894 0.002647 0.003905 0.001939 0.005796 0.003905 213 39 32 4 7 13 102 5 11 64990 11582 8878 1190 7832 4912 26120 2578 1898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 1 0 3 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.1625 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 80 . . . . . . . . . . . . . . . . . . . 1.838e-03 . . . 0 0.0278 0 0 . 0.0435 . 0.0625 0 0.0256 0 0 . 0.0417 . 0.0625 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000149541 B3GAT3 B3GAT3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35002433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0097 0.0050 0.0039 0.0044 0.0010 0.0024 0.0070 0.0078 0.0026 0.0003 0.0006 0 0 0.0006 0.0019 0.0006 0.0027 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35002433 rs35002433 rs35002433 rs35002433 1 1538 10 1.I 0,6,79 +rs60001928 11 62444856 T G - UBXN1 18402 UBX domain protein 1 NM_015853.4 -1 1353 939 NP_056937.2 substitution intron GRCh37 62444856 62444856 Chr11(GRCh37):g.62444856T>G 651+134 651+134 NM_015853.4:c.651+134A>C p.? p.? 7 7 616378 134 5' 71.8032 9.04236 0.918695 8.32113 71.8032 9.04236 0.918695 8.32113 0 Cryptic Acceptor Strongly Activated 62444837 3.05019 0.015797 70.3554 III.31 0.022811 70.3554 rs60001928 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000618 0.000000 0.000000 0.000000 0.000000 0.000618 1 0 0 0 1 0 0 0 0 30932 8716 838 302 1618 0 14986 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion A C A>C 0.630 0.286 255 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.6896552 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.8088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . 0.0002 . . . 0.37 0.28 182 ENSG00000162191 UBXN1 UBXN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs60001928 . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . II.15 . . . . . . . . . 0 3.233e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs60001928 rs60001928 rs60001928 rs60001928 1 1538 10 1/0 0,255,255 +rs191835830 11 62473231 G C - BSCL2 15832 BSCL2, seipin lipid droplet biogenesis associated NM_001122955.3 -1 2006 1389 NP_001116427.1 substitution intron GRCh37 62473231 62473231 Chr11(GRCh37):g.62473231G>C 88-142 88-142 NM_001122955.3:c.88-142C>G p.? p.? 2 1 606158 -142 3' 90.6037 XII.58 0.982814 13.0047 90.6037 XII.58 0.982814 13.0047 0 rs191835830 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.005000 0.008600 0.007272 0.000000 0.000000 0.000000 0.000000 0.000000 0.009011 0.020893 0.017347 0.020893 225 0 0 0 0 0 135 73 17 30942 8728 838 302 1618 0 14982 3494 980 0.017778 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.013699 0.000000 4 0 0 0 0 0 3 1 0 217 0 0 0 0 0 129 71 17 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C G C>G 0.024 2.465 255 PASS . 0.0027 0.01 . 0.01 . 0.0022 0.0086 . 0.005 . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . I.48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0022 . . . 0.32 0.29 182 . HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 . . . . . . 222 0.00341665 64976 212 0.00353416 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191835830 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv897623 . . . . . III.95 . . . . . . . . . 0 0.0073 0 0 0 0.0209 0.0090 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs191835830 rs191835830 1 1538 10 1/0 0,255,255 +rs191835830 11 62473231 G C - GNG3 4405 Guanine nucleotide binding protein (G protein), gamma 3 NM_012202.4 1 951 228 NP_036334.1 P63215 substitution upstream GRCh37 62473231 62473231 Chr11(GRCh37):g.62473231G>C -2158 -2158 NM_012202.4:c.-2158G>C p.? p.? 1 608941 -2157 5' 100 X.83 0.998409 X.47 100 X.83 0.998409 X.47 0 rs191835830 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.005000 0.008600 0.007272 0.000000 0.000000 0.000000 0.000000 0.000000 0.009011 0.020893 0.017347 0.020893 225 0 0 0 0 0 135 73 17 30942 8728 838 302 1618 0 14982 3494 980 0.017778 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.013699 0.000000 4 0 0 0 0 0 3 1 0 217 0 0 0 0 0 129 71 17 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion G C G>C 0.024 2.465 255 PASS . 0.0027 0.01 . 0.01 . 0.0022 0.0086 . 0.005 . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . I.48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0022 . . . 0.32 0.29 182 . HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 . . . . . . 222 0.00341665 64976 212 0.00353416 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191835830 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv897623 . . . . . III.95 . . . . . . . . . 0 0.0073 0 0 0 0.0209 0.0090 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs191835830 rs191835830 1 1538 10 1/0 0,255,255 +rs191835830 11 62473231 G C - HNRNPUL2-BSCL2 49189 HNRNPUL2-BSCL2 readthrough NR_037946.1 -1 4014 0 substitution intron GRCh37 62473231 62473231 Chr11(GRCh37):g.62473231G>C 2608-142 2608-142 NR_037946.1:n.2608-142C>G p.? p.? 15 14 -142 3' 90.6037 XII.58 0.982814 13.0047 90.6037 XII.58 0.982814 13.0047 0 rs191835830 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.005000 0.008600 0.007272 0.000000 0.000000 0.000000 0.000000 0.000000 0.009011 0.020893 0.017347 0.020893 225 0 0 0 0 0 135 73 17 30942 8728 838 302 1618 0 14982 3494 980 0.017778 0.000000 0.000000 0.000000 0.000000 0.000000 0.022222 0.013699 0.000000 4 0 0 0 0 0 3 1 0 217 0 0 0 0 0 129 71 17 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transversion C G C>G 0.024 2.465 255 PASS . 0.0027 0.01 . 0.01 . 0.0022 0.0086 . 0.005 . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . I.48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0022 . . . 0.32 0.29 182 . HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 . . . . . . 222 0.00341665 64976 212 0.00353416 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191835830 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv897623 . . . . . III.95 . . . . . . . . . 0 0.0073 0 0 0 0.0209 0.0090 0.0173 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs191835830 rs191835830 1 1538 10 1/0 0,255,255 +rs748700444 (chr11:63129891 C/T) 11 63129891 C T Not on a known gene +. 11 63330196 T C - HRASLS2 17824 HRAS-like suppressor 2 NM_017878.1 -1 742 489 NP_060348.1 Q9NWW9 substitution intron GRCh37 63330196 63330196 Chr11(GRCh37):g.63330196T>C 9+592 9+592 NM_017878.1:c.9+592A>G p.? p.? 1 1 613866 592 5' 87.3609 X.15 0.995182 IV.95 87.3609 X.15 0.995182 IV.95 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30962 8724 838 302 1620 0 15006 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.3970588 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||HRASLS2|mRNA|CODING|NM_017878|) . . . . . . . -0.3204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000133328 HRASLS2 HRASLS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.23e-05 0 0 0 0 6.664e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 11 63672589 T G - MARK2 3332 MAP/microtubule affinity-regulating kinase 2 NM_001039469.2 1 4729 2367 NP_001034558.2 Q7KZI7 substitution intron GRCh37 63672589 63672589 Chr11(GRCh37):g.63672589T>G 1934+74 1934+74 NM_001039469.2:c.1934+74T>G p.? p.? 16 16 600526 74 5' 94.2214 9.88355 0.997739 9.53785 94.2214 9.88355 0.997739 9.64436 0 0.000454 0.000270 0.000000 0.000000 0.000000 0.000000 0.000302 0.002449 0.000000 0.002449 12 2 0 0 0 0 4 6 0 26426 7414 644 276 1592 0 13264 2450 786 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 2 0 0 0 0 4 6 0 0 0 0 0 0 0 0 0 0 RF 49 Genomes transversion T G T>G 0.197 0.205 238 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.0729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000072518 MARK2 MARK2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0005 0 0 0 0.0024 0.0003 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs148317844 11 63766544 C G - MACROD1 29598 MACRO domain containing 1 NM_014067.3 -1 1257 978 NP_054786.2 Q9BQ69 substitution intron GRCh37 63766544 63766544 Chr11(GRCh37):g.63766544C>G 892-36 892-36 NM_014067.3:c.892-36G>C p.? p.? 9 8 610400 -36 3' 0 0 0.027476 0 0 0 0.027476 0 0 rs148317844 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.001733 0.000541 0.001909 0.000412 0.000000 0.000219 0.003032 0.000318 0.001847 0.003032 338 10 52 3 0 5 254 5 9 195078 18486 27246 7284 14876 22840 83772 15700 4874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 338 10 52 3 0 5 254 5 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8037 4129 12166 27 3 30 0.00334821 0.000726041 0.00245982 0.00334821 0.000726041 0.00245982 11 transversion G C G>C 0.000 0.205 255 PASS 0.01 0.0037 0.0028 . 0.004 . 0.0008 . . 0.004 . . . . . . 0.5339806 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.0007 0.0025 0.0033 0.0007 0.0025 0.0033 . 0.6731 . . . . . . . . 1.308e-03 . . . 0.0006 0.0022 0.0014 0 0 0.0042 0 0.0003 0.0006 0.0021 0.0011 0 0 0.0034 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.34 0.37 182 . MACROD1 MACROD1 . . . . . . 95 0.00146208 64976 91 0.00151702 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs148317844 . . . . . . . . . . . . . . . . . . . . . . . 0.002460 . . . . . 0.0003 0.0018 0.0019 0.0003 0 0.0004 0.0032 0.0021 0.0002 0.0008 0.0014 0.0012 0.0033 0 0 0.0021 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs148317844 rs148317844 1 1538 10 1/0 0,255,255 +rs148317844 11 63766544 C G - OTUB1 23077 OTU domain, ubiquitin aldehyde binding 1 NM_017670.2 1 2294 816 NP_060140.2 Q96FW1 substitution downstream GRCh37 63766544 63766544 Chr11(GRCh37):g.63766544C>G *1526 *1526 NM_017670.2:c.*1526C>G p.? p.? 7 608337 1724 3' 78.1178 5.58465 0.170022 5.68936 78.1178 5.58465 0.170022 5.68936 0 rs148317844 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.001733 0.000541 0.001909 0.000412 0.000000 0.000219 0.003032 0.000318 0.001847 0.003032 338 10 52 3 0 5 254 5 9 195078 18486 27246 7284 14876 22840 83772 15700 4874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 338 10 52 3 0 5 254 5 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8037 4129 12166 27 3 30 0.00334821 0.000726041 0.00245982 0.00334821 0.000726041 0.00245982 11 transversion C G C>G 0.000 0.205 255 PASS 0.01 0.0037 0.0028 . 0.004 . 0.0008 . . 0.004 . . . . . . 0.5339806 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . 0.0007 0.0025 0.0033 0.0007 0.0025 0.0033 . 0.6731 . . . . . . . . 1.308e-03 . . . 0.0006 0.0022 0.0014 0 0 0.0042 0 0.0003 0.0006 0.0021 0.0011 0 0 0.0034 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.34 0.37 182 . MACROD1 MACROD1 . . . . . . 95 0.00146208 64976 91 0.00151702 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs148317844 . . . . . . . . . . . . . . . . . . . . . . . 0.002460 . . . . . 0.0003 0.0018 0.0019 0.0003 0 0.0004 0.0032 0.0021 0.0002 0.0008 0.0014 0.0012 0.0033 0 0 0.0021 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs148317844 rs148317844 1 1538 10 1/0 0,255,255 +rs141444103 11 63996767 G A - DNAJC4 5271 DnaJ (Hsp40) homolog, subfamily C, member 4 NM_001307980.1 1 1341 750 NP_001294909.1 substitution upstream GRCh37 63996767 63996767 Chr11(GRCh37):g.63996767G>A -1560 -1560 NM_001307980.1:c.-1560G>A p.? p.? 1 604189 -1646 5' 83.6687 X.37 0.980982 14.0601 83.6687 X.37 0.980982 14.0601 0 rs141444103 yes no Frequency 1 G 0.000000 0 0.000118 0.000000 0.000000 0.000620 0.000000 0.000275 0.000122 0.000086 0.000000 0.000620 30 0 0 6 0 8 14 2 0 254446 21806 32250 9678 17510 29084 114934 23150 6034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 6 0 8 14 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4394 12985 1 0 1 0.000116387 0 7.7006e-05 0.000116387 0 7.7006e-05 40 transition G A G>A 1.000 5.290 255 PASS . . . . . . . . . . . . . . . . 0.46226415 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.751 . @ . . . . . 1 0.982 . . 106.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.5678 0.539 0.568 c . . . . . 7.118e-05 . . . 0 0.0002 0 0 0 0.0002 0 0.0003 0 0.0001 0 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.338 . . exonic exonic exonic . . 0.475 @ . . . 0.63 0.33 182 ENSG00000149761 NUDT22 NUDT22 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.372 0.016 . . 37 . 0.477 . . 0.484 . . . 0.761 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.399 . . 0 0 0 0 0 0 . 0.899 . . 0.667 . . . . . . 0 0.421 . . . . . 0.773 . 0.687 . HET 0.13 rs141444103 . . . . . . . . . . . . 15.7082 0.0 . IV.13 IV.13 . 0.070000 . . . . 0.000077 . 0.724 . . IV.13 0 0.0001 0 0.0004 0 0.0001 0.0001 0 0.0003 0 0.0001 0 0.0066 0 0 0.0001 0 . . 0.854 . 2.298 2.298000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.297 0.985 . 0.924 . 0.713 2.298 0.917 0.0001 . . rs141444103 rs141444103 1 1538 10 1/0 0,253,255 +rs141444103 11 63996767 G A - NUDT22 28189 Nudix (nucleoside diphosphate linked moiety X)-type motif 22 NM_001128612.2 1 996 912 NP_001122084.1 Q9BRQ3 substitution missense exon GRCh37 63996767 63996767 Chr11(GRCh37):g.63996767G>A 628 628 NM_001128612.2:c.628G>A p.Ala210Thr p.Ala210Thr 4 49 3' 78.9966 8.40597 0.87535 13.171 78.9966 8.40597 0.87535 XII.59 0 rs141444103 yes no Frequency 1 G 0.000000 0 0.000118 0.000000 0.000000 0.000620 0.000000 0.000275 0.000122 0.000086 0.000000 0.000620 30 0 0 6 0 8 14 2 0 254446 21806 32250 9678 17510 29084 114934 23150 6034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 6 0 8 14 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4394 12985 1 0 1 0.000116387 0 7.7006e-05 0.000116387 0 7.7006e-05 40 transition G A G>A 1.000 5.290 A Ala GCC 0.403 T Thr ACC 0.361 210 12 12 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C55 0.00 58.02 Deleterious 0 III.49 255 PASS . . . . . . . . . . . . . . . . 0.46226415 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.751 . @ . . . . . 1 0.982 . . 106.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.5678 0.539 0.568 c . . . . . 7.118e-05 . . . 0 0.0002 0 0 0 0.0002 0 0.0003 0 0.0001 0 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.338 . . exonic exonic exonic . . 0.475 @ . . . 0.63 0.33 182 ENSG00000149761 NUDT22 NUDT22 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.372 0.016 . . 37 . 0.477 . . 0.484 . . . 0.761 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.399 . . 0 0 0 0 0 0 . 0.899 . . 0.667 . . . . . . 0 0.421 . . . . . 0.773 . 0.687 . HET 0.13 rs141444103 . . . . . . . . . . . . 15.7082 0.0 . IV.13 IV.13 . 0.070000 . . . . 0.000077 . 0.724 . . IV.13 0 0.0001 0 0.0004 0 0.0001 0.0001 0 0.0003 0 0.0001 0 0.0066 0 0 0.0001 0 . . 0.854 . 2.298 2.298000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.297 0.985 . 0.924 . 0.713 2.298 0.917 0.0001 . . rs141444103 rs141444103 1 1538 10 1/0 0,253,255 +. 11 65113554 G GC - DPF2 9964 D4, zinc and double PHD fingers family 2 NM_006268.4 1 2530 1176 NP_006259.1 Q92785 duplication intron GRCh37 65113555 65113556 Chr11(GRCh37):g.65113555dup 904+26 904+26 NM_006268.4:c.904+26dup p.? p.? 8 8 601671 26 5' 71.8032 9.04236 0.847247 7.82877 71.8032 9.04236 0.847247 VIII.16 0 rs757092533 yes no Frequency 1 0.000000 0 0.001474 0.000042 0.000175 0.000990 0.000000 0.001400 0.002175 0.002294 0.002175 0.002294 407 1 6 10 0 43 274 59 14 276208 24018 34380 10098 18864 30722 125964 25724 6438 0.000014 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 403 1 6 10 0 41 272 59 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8235 4263 12498 17 1 18 0.00206011 0.000234522 0.00143816 0.00206011 0.000234522 0.00143816 77 C 255 Pass . . . . . . . . . . . . . . . . 0.3611111 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 36 . . INTRON(MODIFIER||||DPF2|mRNA|CODING|NM_006268|) 0.0002 0.0014 0.0021 0.0002 0.0014 0.0021 . . . . . . . . . . 1.389e-03 . . . 9.843e-05 0.0012 8.649e-05 0 0.0029 0.0016 0 0.0013 0.0002 0.0014 8.919e-05 0 0.0021 0.0019 0.0015 0.0014 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000133884 DPF2 DPF2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs757092533 . . . . . . . . . . . . . . . . . . . . . . . 0.001438 . . . . . 6.537e-05 0.0014 0.0002 0.0010 0 0.0022 0.0020 0.0016 0.0014 0 0.0022 0 0 0 0.0026 0.0036 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0021 . . . . 1 1538 10 1.I 0,11,44 +rs189188520 11 65384225 T C - PCNX3 18760 Pecanex homolog 3 (Drosophila) NM_032223.3 1 6566 6105 NP_115599.2 Q9H6A9 substitution intron GRCh37 65384225 65384225 Chr11(GRCh37):g.65384225T>C 154-70 154-70 NM_032223.3:c.154-70T>C p.? p.? 2 1 617657 -70 3' 91.6713 X.74 0.949843 7.78113 91.6713 X.74 0.949843 7.53134 0 rs189188520 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.005000 0.002900 0.003974 0.000574 0.002392 0.000000 0.000000 0.000000 0.005868 0.006010 0.007128 0.006010 123 5 2 0 0 0 88 21 7 30950 8718 836 302 1622 0 14996 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123 5 2 0 0 0 88 21 7 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition T C T>C 0.000 -1.005 255 PASS . 0.0014 . . 0.004 . 0.0018 0.0029 . 0.005 0.002 . . . . . 0.47058824 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . 0.8991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.34 0.23 182 ENSG00000197136 PCNXL3 PCNXL3 . . . . . . 228 0.00350899 64976 219 0.00365085 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189188520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0040 0.0024 0 0 0.0060 0.0059 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs189188520 rs189188520 1 1538 10 1/0 0,255,255 +. 11 65409144 A C - SIPA1 10885 Signal-induced proliferation-associated 1 NM_006747.3 1 3501 3129 NP_006738.3 Q96FS4 substitution intron GRCh37 65409144 65409144 Chr11(GRCh37):g.65409144A>C 679+73 679+73 NM_006747.3:c.679+73A>C p.? p.? 2 2 602180 73 5' 90.3122 9.15773 0.991914 9.45127 90.3122 9.15773 0.991914 IX.42 0 transversion A C A>C 0.055 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.48333332 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . 0.9625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000213445 SIPA1 SIPA1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs371319164 11 65630546 A G - MUS81 29814 MUS81 structure-specific endonuclease subunit NM_001350283.1 1 2403 1659 NP_001337212.1 substitution missense exon GRCh37 65630546 65630546 Chr11(GRCh37):g.65630546A>G 616 616 NM_001350283.1:c.616A>G p.Thr206Ala p.Thr206Ala 7 606591 11 3' 85.4313 IX.02 0.924885 9.91678 85.4313 IX.02 0.928154 9.71651 0.00117816 rs371319164 yes no Frequency 1 A 0.000000 0 0.000047 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000039 0.000000 0.000095 13 0 0 0 0 0 12 1 0 277020 24008 34414 10152 18868 30782 126588 25748 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 0 0 0 0 12 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4402 12993 1 0 1 0.000116387 0 7.69586e-05 0.000116387 0 7.69586e-05 49 transition A G A>G 1.000 1.497 T Thr ACC 0.361 A Ala GCC 0.403 206 12 10 Baker's yeast 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . MUS81:uc001ofv.4:exon7:c.A616G:p.T206A MUS81:NM_025128:exon7:c.A616G:p.T206A . . 0.47692308 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.536 . @ . . . . . 1 0.734 . . 65.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.2921 0.182 0.292 c . . . . . 2.368e-05 . . . 0 3.344e-05 0 0 0 7.253e-05 0 0 0 1.896e-05 0 0 0 3.712e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.403 @ . . . 0.35 0.25 182 ENSG00000172732 MUS81 MUS81 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.435 0.021 . . 37 . 0.577 . . 0.557 . . . 0.904 0.444 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.789 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 2 0.912 . . . . . 0.336 . 0.548 . HET 0.01 rs371319164 . . . . . . . . . . . . VIII.95 0.0 . IV.78 III.61 . 0.120000 Q96NY9 . . . 0.000077 . 0.443 . . III.61 0 4.875e-05 0 0 0 4.493e-05 9.852e-05 0 0 0 3.238e-05 0 0 0 0 6.693e-05 0 . . 0.854 . 0.803 0.803000 . . 0.120000 . . 1.0E-255 0.997 0.399 . 0.175 0.601 . 0.469 . 0.960 0.803 1.062 0.0001 . . rs371319164 rs371319164 1 1538 10 1/0 0,255,255 +rs201696075 11 66103880 G A - BRMS1 17262 Breast cancer metastasis suppressor 1 NM_001024957.1 -1 1355 873 NP_001020128.1 substitution downstream GRCh37 66103880 66103880 Chr11(GRCh37):g.66103880G>A *1259 *1259 NM_001024957.1:c.*1259C>T p.? p.? 10 606259 1399 3' 88.2325 XI.53 0.977005 8.72183 88.2325 XI.53 0.977005 8.72183 0 rs201696075 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.002475 0.000216 0.001419 0.019134 0.000000 0.000942 0.002275 0.003819 0.003357 0.019134 663 5 48 190 0 28 278 93 21 267906 23150 33822 9930 18494 29710 122192 24352 6256 0.000060 0.000000 0.000118 0.001007 0.000000 0.000067 0.000000 0.000000 0.000000 8 0 2 5 0 1 0 0 0 647 5 44 180 0 26 278 93 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4392 12959 23 2 25 0.00267753 0.000455166 0.00192545 0.00267753 0.000455166 0.00192545 18 transition C T C>T 1.000 2.304 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.37974682 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . . 0.0005 0.0019 0.0027 0.0005 0.0019 0.0027 . II.38 . . . . . . . . 2.282e-03 . . . 0.0003 0.0027 0.0012 0 0.0058 0.0045 0.0037 0.0011 0.0003 0.0028 0.0013 0 0.0055 0.0042 0.0060 0.0011 . . . . . . ncRNA_exonic UTR5 UTR5 . . . 0.0006 . . . 0.73 0.68 182 ENSG00000254756 RIN1 RIN1 . . NM_004292:c.-7C>T . . . 114 0.00175449 64976 112 0.0018671 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201696075 . . . . . . . . . . . . . . . . . . . . . . . 0.001925 . . . . 3.VII 0.0002 0.0025 0.0014 0.0190 0 0.0036 0.0023 0.0036 0.0009 0.0002 0.0021 0.0036 0.0232 0 0.0052 0.0021 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs201696075 rs201696075 1 1538 10 1/0 0,255,255 +rs201696075 11 66103880 G A - RIN1 18749 Ras and Rab interactor 1 NM_004292.2 -1 2684 2352 NP_004283.2 Q13671 substitution 5'UTR GRCh37 66103880 66103880 Chr11(GRCh37):g.66103880G>A -7 -7 NM_004292.2:c.-7C>T p.? p.? 1 605965 -93 5' 77.6817 4.24218 0.687302 2.54224 77.6817 4.24218 0.687302 2.54224 0 rs201696075 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.002475 0.000216 0.001419 0.019134 0.000000 0.000942 0.002275 0.003819 0.003357 0.019134 663 5 48 190 0 28 278 93 21 267906 23150 33822 9930 18494 29710 122192 24352 6256 0.000060 0.000000 0.000118 0.001007 0.000000 0.000067 0.000000 0.000000 0.000000 8 0 2 5 0 1 0 0 0 647 5 44 180 0 26 278 93 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4392 12959 23 2 25 0.00267753 0.000455166 0.00192545 0.00267753 0.000455166 0.00192545 18 transition C T C>T 1.000 2.304 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.37974682 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . . 0.0005 0.0019 0.0027 0.0005 0.0019 0.0027 . II.38 . . . . . . . . 2.282e-03 . . . 0.0003 0.0027 0.0012 0 0.0058 0.0045 0.0037 0.0011 0.0003 0.0028 0.0013 0 0.0055 0.0042 0.0060 0.0011 . . . . . . ncRNA_exonic UTR5 UTR5 . . . 0.0006 . . . 0.73 0.68 182 ENSG00000254756 RIN1 RIN1 . . NM_004292:c.-7C>T . . . 114 0.00175449 64976 112 0.0018671 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201696075 . . . . . . . . . . . . . . . . . . . . . . . 0.001925 . . . . 3.VII 0.0002 0.0025 0.0014 0.0190 0 0.0036 0.0023 0.0036 0.0009 0.0002 0.0021 0.0036 0.0232 0 0.0052 0.0021 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs201696075 rs201696075 1 1538 10 1/0 0,255,255 +rs377284465 11 66239788 T A - PELI3 30010 Pellino E3 ubiquitin protein ligase family member 3 NM_145065.2 1 2744 1410 NP_659502.2 Q8N2H9 substitution intron GRCh37 66239788 66239788 Chr11(GRCh37):g.66239788T>A 355-52 355-52 NM_145065.2:c.355-52T>A p.? p.? 5 4 609827 -52 3' 89.1686 9.94177 0.948259 8.83971 89.1686 9.94177 0.948259 8.63221 0 rs377284465 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.001455 0.000000 0.000000 0.000000 0.000000 0.000000 0.001670 0.005158 0.002049 0.005158 45 0 0 0 0 0 25 18 2 30920 8724 838 302 1618 0 14972 3490 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 0 0 0 0 0 25 18 2 0 0 0 0 0 0 0 0 0 PASS 39 Genomes 3969 1746 5715 3 0 3 0.000755287 0 0.000524659 0.000755287 0 0.000524659 30 transversion T A T>A 0.000 -0.279 255 PASS . . . . . . 0.0004 . . 0.001 0.001 . . . . . 0.5677966 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . 0.1194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.41 0.2 182 ENSG00000174516 PELI3 PELI3 . . . . . . 38 0.000584831 64976 36 0.00060014 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs377284465 . . . . . . . . . . . . . . . . . . . . . . . 0.000525 . . . . . . . . . . . . . . 0 0.0015 0 0 0 0.0052 0.0017 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs377284465 rs377284465 1 1538 10 1/0 0,252,255 +rs148080813 11 66332390 T C - ACTN3 165 Actinin, alpha 3 (gene/pseudogene) NM_001258371.2 1 3087 2835 NP_001245300.2 substitution downstream GRCh37 66332390 66332390 Chr11(GRCh37):g.66332390T>C *1726 *1726 NM_001258371.2:c.*1726T>C p.? p.? 21 102574 1885 3' 83.8822 8.44019 0.981263 XI.93 83.8822 8.44019 0.981263 XI.93 0 rs148080813 yes no Frequency 1 T uncertain_significance 0.000000 0 0.000174 0.000125 0.000000 0.000000 0.000000 0.000164 0.000319 0.000000 0.000000 0.000319 48 3 0 0 0 5 40 0 0 275072 24020 34280 9940 18864 30406 125524 25622 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 3 0 0 0 5 40 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4399 12986 3 1 4 0.000349243 0.000227273 0.000307929 0.000349243 0.000227273 0.000307929 149 RCV000372587.1 germline clinical testing VUS 1 not specified transition T C T>C 1.000 3.757 255 PASS . . . . . . . . . . . ENSG00000174080:ENST00000310325:exon9:c.A1133G:p.N378S CTSF:uc001oip.3:exon9:c.A1133G:p.N378S CTSF:NM_003793:exon9:c.A1133G:p.N378S . . 0.55 . . germline 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.524 . Uncertain//\@significance Uncertain_significance RCV000372587.1 not_specified MedGen CN169374 1 0.882 . . 80.0 . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . 0.1881 0.285 0.188 c . . . . . 2.368e-04 . . . 0.0002 0.0002 0 0 0 0.0003 0 0.0003 0.0002 0.0003 0 0 0 0.0004 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.864 . . exonic exonic exonic . . 0.555 @ . . . 0.47 0.53 182 ENSG00000174080 CTSF CTSF . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.763 0.094 . . 37 . 0.790 . . 0.757 . . . 0.162 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.420 . . 0.483 . . . . . . 3 0.290 . . . . . 0.534 . 0.120 . HET 0.14 rs148080813 . . . . . . . . . . . . 12.1886 2.68E-4 ENST00000310325 IV.56 IV.56 . 0.470000 Q9UBX1 . . . 0.000308 . 0.697 . . IV.56 0.0001 0.0002 0 0 0 0 0.0003 0 0.0002 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . 2.054 2.054000 . . 0.470000 . . 1.0E-255 1.000 0.715 . 0.474 0.977 . 0.654 . 0.580 2.054 0.991 0.0003 . . rs148080813 rs148080813 1 1538 10 1/0 0,255,255 +rs148080813 11 66332390 T C - CTSF 2531 Cathepsin F NM_003793.3 -1 2014 1455 NP_003784.2 Q9UBX1 substitution missense exon GRCh37 66332390 66332390 Chr11(GRCh37):g.66332390T>C 1133 1133 NM_003793.3:c.1133A>G p.Asn378Ser p.Asn378Ser 9 603539 -33 5' 74.2342 7.35828 0.908087 XI.01 74.2342 7.35828 0.908087 XI.25 0 Peptidase C1A, papain C-terminal rs148080813 yes no Frequency 1 T uncertain_significance 0.000000 0 0.000174 0.000125 0.000000 0.000000 0.000000 0.000164 0.000319 0.000000 0.000000 0.000319 48 3 0 0 0 5 40 0 0 275072 24020 34280 9940 18864 30406 125524 25622 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 3 0 0 0 5 40 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4399 12986 3 1 4 0.000349243 0.000227273 0.000307929 0.000349243 0.000227273 0.000307929 149 RCV000372587.1 germline clinical testing VUS 1 not specified transition A G A>G 1.000 3.757 N Asn AAT 0.464 S Ser AGT 0.149 378 11 8 C. elegans 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 221.07 0.00 Tolerated 0.33 III.23 good 1.267E-1 0.0126 255 PASS . . . . . . . . . . . ENSG00000174080:ENST00000310325:exon9:c.A1133G:p.N378S CTSF:uc001oip.3:exon9:c.A1133G:p.N378S CTSF:NM_003793:exon9:c.A1133G:p.N378S . . 0.55 . . germline 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.524 . Uncertain//\@significance Uncertain_significance RCV000372587.1 not_specified MedGen CN169374 1 0.882 . . 80.0 . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . 0.1881 0.285 0.188 c . . . . . 2.368e-04 . . . 0.0002 0.0002 0 0 0 0.0003 0 0.0003 0.0002 0.0003 0 0 0 0.0004 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.864 . . exonic exonic exonic . . 0.555 @ . . . 0.47 0.53 182 ENSG00000174080 CTSF CTSF . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.763 0.094 . . 37 . 0.790 . . 0.757 . . . 0.162 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.567 . . 0 0 0 0 0 0 . 0.420 . . 0.483 . . . . . . 3 0.290 . . . . . 0.534 . 0.120 . HET 0.14 rs148080813 . . . . . . . . . . . . 12.1886 2.68E-4 ENST00000310325 IV.56 IV.56 . 0.470000 Q9UBX1 . . . 0.000308 . 0.697 . . IV.56 0.0001 0.0002 0 0 0 0 0.0003 0 0.0002 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.609 . 2.054 2.054000 . . 0.470000 . . 1.0E-255 1.000 0.715 . 0.474 0.977 . 0.654 . 0.580 2.054 0.991 0.0003 . . rs148080813 rs148080813 1 1538 10 1/0 0,255,255 +. 11 66391415 CCTT C - RBM14 14219 RNA binding motif protein 14 NM_006328.3 1 5415 2010 NP_006319.1 Q96PK6 deletion intron GRCh37 66391421 66391423 Chr11(GRCh37):g.66391421_66391423del 338-264 338-262 NM_006328.3:c.338-264_338-262del p.? p.? 2 1 612409 -262 3' 82.2147 VI.56 0.878468 X.23 82.2147 VI.56 0.878468 X.23 0 rs761515226 yes no Frequency 1 0.000000 0 0.000240 0.001441 0.000040 0.000000 0.000000 0.000841 0.000000 0.000000 0.000000 0.001441 42 22 1 0 0 19 0 0 0 174912 15270 24710 8406 11772 22598 67230 20158 4768 0.000011 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 40 22 1 0 0 17 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TCT 255 Pass . . . . . . . . . . . ENSG00000239306:ENST00000409372:exon2:c.382_384del:p.128_128del . . . . 0.53846157 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 65 . . . . . . . . . . . . . . . . . . . 1.910e-04 . . . 0.0011 0.0004 0 0 0 0 0 0.0007 0 0.0004 0 0 0 0 0 0.0007 nonframeshift_deletion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000239306 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs761515226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0002 4.189e-05 0 0 0 0 0 0.0008 0.0013 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,27 +. 11 66391415 CCTT C - RBM14-RBM4 38840 RBM14-RBM4 readthrough NM_001198845.1 1 1614 1020 NP_001185774.1 deletion intron GRCh37 66391421 66391423 Chr11(GRCh37):g.66391421_66391423del 337+6893 337+6895 NM_001198845.1:c.337+6893_337+6895del p.? p.? 1 1 6893 5' 81.9786 X.32 0.917025 15.8049 81.9786 X.32 0.917025 15.8049 0 rs761515226 yes no Frequency 1 0.000000 0 0.000240 0.001441 0.000040 0.000000 0.000000 0.000841 0.000000 0.000000 0.000000 0.001441 42 22 1 0 0 19 0 0 0 174912 15270 24710 8406 11772 22598 67230 20158 4768 0.000011 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 40 22 1 0 0 17 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes TCT 255 Pass . . . . . . . . . . . ENSG00000239306:ENST00000409372:exon2:c.382_384del:p.128_128del . . . . 0.53846157 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 65 . . . . . . . . . . . . . . . . . . . 1.910e-04 . . . 0.0011 0.0004 0 0 0 0 0 0.0007 0 0.0004 0 0 0 0 0 0.0007 nonframeshift_deletion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000239306 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs761515226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0002 4.189e-05 0 0 0 0 0 0.0008 0.0013 0.0004 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,27 +rs200571152 11 66393177 C T - RBM14 14219 RNA binding motif protein 14 NM_006328.3 1 5415 2010 NP_006319.1 Q96PK6 substitution intron GRCh37 66393177 66393177 Chr11(GRCh37):g.66393177C>T 1802+28 1802+28 NM_006328.3:c.1802+28C>T p.? p.? 2 2 612409 28 5' 71.4965 8.55816 0.875726 9.66105 71.4965 8.55816 0.875726 9.20969 0 rs200571152 yes no Frequency 1 C 0.000000 0 0.000559 0.000044 0.000000 0.000000 0.000000 0.000000 0.000728 0.002806 0.000562 0.002806 127 1 0 0 0 0 77 46 3 227296 22756 29060 6228 17802 23896 105826 16394 5334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127 1 0 0 0 0 77 46 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8142 4102 12244 2 0 2 0.00024558 0 0.000163319 0.00024558 0 0.000163319 14 transition C T C>T 1.000 3.030 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.28 . . . . . . . . 5.891e-04 . . . 0 0.0005 0 0 0.0041 0.0007 0.0022 0 0.0002 0.0007 0 0 0.0043 0.0008 0.0047 0 . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.37 182 . . . . . . . . . 27 0.000415538 64976 27 0.000450105 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200571152 . . . . . . . . . . . . . . . . . . . . . . . 0.000163 . . . . V.22 7.132e-05 0.0005 0 0 0 0.0025 0.0007 0.0005 0 0 0.0010 0 0 0 0.0040 0.0010 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs200571152 rs200571152 1 1538 10 1/0 0,255,255 +rs200571152 11 66393177 C T - RBM14-RBM4 38840 RBM14-RBM4 readthrough NM_001198845.1 1 1614 1020 NP_001185774.1 substitution intron GRCh37 66393177 66393177 Chr11(GRCh37):g.66393177C>T 337+8649 337+8649 NM_001198845.1:c.337+8649C>T p.? p.? 1 1 8649 5' 81.9786 X.32 0.917025 15.8049 81.9786 X.32 0.917025 15.8049 0 rs200571152 yes no Frequency 1 C 0.000000 0 0.000559 0.000044 0.000000 0.000000 0.000000 0.000000 0.000728 0.002806 0.000562 0.002806 127 1 0 0 0 0 77 46 3 227296 22756 29060 6228 17802 23896 105826 16394 5334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127 1 0 0 0 0 77 46 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8142 4102 12244 2 0 2 0.00024558 0 0.000163319 0.00024558 0 0.000163319 14 transition C T C>T 1.000 3.030 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.28 . . . . . . . . 5.891e-04 . . . 0 0.0005 0 0 0.0041 0.0007 0.0022 0 0.0002 0.0007 0 0 0.0043 0.0008 0.0047 0 . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.37 182 . . . . . . . . . 27 0.000415538 64976 27 0.000450105 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200571152 . . . . . . . . . . . . . . . . . . . . . . . 0.000163 . . . . V.22 7.132e-05 0.0005 0 0 0 0.0025 0.0007 0.0005 0 0 0.0010 0 0 0 0.0040 0.0010 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs200571152 rs200571152 1 1538 10 1/0 0,255,255 +. 11 67219068 C CAGCTGTGG - CABP4 1386 Calcium binding protein 4 NM_145200.3 1 4020 828 NP_660201.1 P57796 duplication upstream GRCh37 67219076 67219077 Chr11(GRCh37):g.67219069_67219076dup -3826 -3819 NM_145200.3:c.-3826_-3819dup p.? p.? 1 608965 -4184 5' 84.7989 6.06132 0.653261 8.18709 84.7989 6.06132 0.653261 8.18709 0 rs745593287 yes no Frequency 1 0.000000 0 0.001042 0.000083 0.000174 0.000592 0.000000 0.001007 0.001133 0.003601 0.001240 0.003601 288 2 6 6 0 31 143 92 8 276426 23984 34414 10138 18862 30778 126252 25548 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 286 2 6 6 0 29 143 92 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8246 4264 12510 8 0 8 0.000969227 0 0.00063908 0.000969227 0 0.00063908 52 AGCTGTGG 255 Pass . . . . . . . . . . . ENSG00000175514:ENST00000312457:exon1:c.1127_1128insCCACAGCT:p.L376fs GPR152:uc001olm.3:exon1:c.1127_1128insCCACAGCT:p.L376fs GPR152:NM_206997:exon1:c.1127_1128insCCACAGCT:p.L376fs . . 0.3131313 . . . 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 198 . . . . 0.0006 0.001 . 0.0006 0.001 . . . . . . . . . . 1.074e-03 . . . 9.739e-05 0.0008 8.679e-05 0 0.0039 0.0010 0.0042 0.0009 0.0001 0.0010 8.938e-05 0 0.0039 0.0011 0.0058 0.0009 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175514 GPR152 GPR152 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs745593287 . . . . . . . . . . . . . . . . . . . . . . . 0.000639 . . . . . 0.0001 0.0010 0.0002 0.0006 0 0.0034 0.0011 0.0011 0.0010 0 0.0014 0 0 0 0.0052 0.0015 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.001 . . . . 1 1538 10 1.I 0,11,50 +. 11 67219068 C CAGCTGTGG - GPR152 23622 G protein-coupled receptor 152 NM_206997.1 -1 1429 1413 NP_996880.1 Q8TDT2 duplication frameshift exon GRCh37 67219068 67219069 Chr11(GRCh37):g.67219069_67219076dup 1120 1127 NM_206997.1:c.1120_1127dup p.Asn377Hisfs*3 p.Asn377Hisfs*3 1 rs745593287 yes no Frequency 1 0.000000 0 0.001042 0.000083 0.000174 0.000592 0.000000 0.001007 0.001133 0.003601 0.001240 0.003601 288 2 6 6 0 31 143 92 8 276426 23984 34414 10138 18862 30778 126252 25548 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 286 2 6 6 0 29 143 92 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8246 4264 12510 8 0 8 0.000969227 0 0.00063908 0.000969227 0 0.00063908 52 CCACAGCT 255 Pass . . . . . . . . . . . ENSG00000175514:ENST00000312457:exon1:c.1127_1128insCCACAGCT:p.L376fs GPR152:uc001olm.3:exon1:c.1127_1128insCCACAGCT:p.L376fs GPR152:NM_206997:exon1:c.1127_1128insCCACAGCT:p.L376fs . . 0.3131313 . . . 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 198 . . . . 0.0006 0.001 . 0.0006 0.001 . . . . . . . . . . 1.074e-03 . . . 9.739e-05 0.0008 8.679e-05 0 0.0039 0.0010 0.0042 0.0009 0.0001 0.0010 8.938e-05 0 0.0039 0.0011 0.0058 0.0009 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175514 GPR152 GPR152 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs745593287 . . . . . . . . . . . . . . . . . . . . . . . 0.000639 . . . . . 0.0001 0.0010 0.0002 0.0006 0 0.0034 0.0011 0.0011 0.0010 0 0.0014 0 0 0 0.0052 0.0015 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.001 . . . . 1 1538 10 1.I 0,11,50 +. 11 67400419 C T - TBX10 11593 T-box 10 NM_005995.4 -1 1548 1158 NP_005986.2 O75333 substitution synonymous exon GRCh37 67400419 67400419 Chr11(GRCh37):g.67400419C>T 705 705 NM_005995.4:c.705G>A p.Arg235= p.Arg235Arg 5 604648 -1 5' 76.2896 5.36998 0.442569 5.22141 64.1535 1.309 0.004139 2.12814 -0.635321 Transcription factor, T-box transition G A G>A 1.000 5.048 R Arg AGG 0.207 R Arg AGA 0.205 235 255 PASS . . . . . . . . . . . ENSG00000167800:ENST00000335385:exon5:c.G705A:p.R235R TBX10:uc001omp.3:exon5:c.G705A:p.R235R TBX10:NM_005995:exon5:c.G705A:p.R235R . . 0.51744187 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167800 TBX10 TBX10 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.992 . . . . . . 4.V . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,245 +. 11 67412204 C CAC - ACY3 24104 Aspartoacylase (aminocyclase) 3 NM_080658.1 -1 1300 960 NP_542389.1 Q96HD9 duplication intron GRCh37 67412203 67412204 Chr11(GRCh37):g.67412204_67412205dup 744+26 744+27 NM_080658.1:c.744+26_744+27dup p.? p.? 7 7 614413 27 5' 85.464 6.99123 0.889162 6.11083 85.464 6.99123 0.889162 6.31557 0 New Donor Site 67412202 0.425381 0.003743 68.9725 rs773003452 no no 0 0.000000 0 0.595647 0.489400 0.606300 0.615100 0.644100 0.684400 0.496285 0.381937 0.485306 0.486016 0.512447 0.481301 0.534974 0.486282 0.513695 0.534974 67323 5561 9512 2989 5064 8108 28788 5388 1913 135654 14560 19600 6150 9882 16846 53812 11080 3724 0.095198 0.105495 0.029694 0.043252 0.099575 0.018521 0.146733 0.081047 0.118153 6457 768 291 133 492 156 3948 449 220 30872 1099 5479 1754 2689 4683 12362 1973 833 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3882 2644 6526 3866 1306 5172 0.498967 0.330633 0.442127 0.498967 0.330633 0.442127 22 TG 255 Pass . . . . . . . . . . . . . . . . 0.7647059 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . INTRON(MODIFIER||||ACY3|mRNA|CODING|NM_080658|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000132744 ACY3 ACY3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,12 +rs367850547 (chr11:67490651 A/G) 11 67490651 A G Not on a known gene +rs775339882 (chr11:67490658 G/A) 11 67490658 G A Not on a known gene +. (chr11:67490698 C/G) 11 67490698 C G Not on a known gene +. (chr11:67490699 T/A) 11 67490699 T A Not on a known gene +rs771745534 11 68527719 C A - CPT1A 2328 Carnitine palmitoyltransferase 1A NM_001876.3 -1 5253 2322 NP_001867.2 P50416 substitution missense exon GRCh37 68527719 68527719 Chr11(GRCh37):g.68527719C>A 2116 2116 NM_001876.3:c.2116G>T p.Val706Leu p.Val706Leu 17 600528 -27 5' 86.7234 X.83 0.993197 13.1899 86.7234 X.83 0.993197 XII.94 0 Acyltransferase ChoActase/COT/CPT transversion G T G>T 0.992 3.999 V Val GTG 0.468 L Leu TTG 0.127 706 13 8 Zebrafish 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.2 III.45 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.4848485 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.470 . @ . . . . . 1 0.284 . . 33.0 . . . . . . . . . . -0.1689 -0.014 -0.169 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.881 . . exonic exonic exonic . . 0.608 @ . . . . . . ENSG00000110090 CPT1A CPT1A . . . 0.999 0.370 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.598 0.041 . . 37 . 0.826 . . 0.760 . . . 0.192 0.520 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.391 . . 0 0 0 0 0 0 . 0.156 . . 0.234 . . . . . . 0 0.110 . . . . . 0.657 . 0.340 . HET 0.47 . . . . . . . . . . . . . 14.2969 . . IV.79 IV.79 . 0.550000 . . . . . . 0.604 . . IV.79 . . . . . . . . . . . . . . . . . . . 0.609 . 2.653 2.653000 . . 0.550000 . . 1.0E-255 0.983 0.354 . 0.212 0.958 . 0.463 . 0.432 2.653 0.871 . . . . . 1 1538 10 1/0 0,255,255 +. 11 70002184 TAT T - ANO1 21625 Anoctamin 1, calcium activated chloride channel NM_018043.5 1 4807 2961 NP_060513.5 Q5XXA6 deletion intron GRCh37 70002185 70002186 Chr11(GRCh37):g.70002185_70002186del 1503+91 1503+92 NM_018043.5:c.1503+91_1503+92del p.? p.? 15 15 610108 91 5' 64.1828 3.1876 0.368307 0 64.1828 3.1876 0.368307 0 0 rs368393737 yes no Frequency 1 0.000000 0 0.000081 0.000137 0.000000 0.000000 0.000000 0.000000 0.000083 0.000000 0.000000 0.000137 2 1 0 0 0 0 1 0 0 24646 7292 626 268 1046 0 12056 2620 738 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 55 Genomes AT 255 Pass . . . . . . . . . . . . . . . . 0.47916666 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000131620 ANO1 ANO1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,32 +rs7950441 11 71184678 A C - MIR6754 50203 MicroRNA 6754 NR_106812.1 1 66 0 substitution downstream GRCh37 71184678 71184678 Chr11(GRCh37):g.71184678A>C *64 *64 NR_106812.1:n.*64A>C p.? p.? 1 rs7950441 yes no Frequency/HapMap/1000G 3 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999989 0.999958 1.000000 1.000000 1.000000 0.999968 0.999992 1.000000 1.000000 1.000000 276371 23957 34406 10120 18828 30761 126079 25778 6442 276374 23958 34406 10120 18828 30762 126080 25778 6442 0.999978 0.999916 1.000000 1.000000 1.000000 0.999935 0.999984 1.000000 1.000000 138184 11978 17203 5060 9414 15380 63039 12889 3221 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4146261|COSM4146261 Upper aerodigestive tract|Thyroid 0.018489|0.001339 1244|747 transversion A C A>C 0.992 0.044 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . NADSYN1:uc001oqn.3:exon8:c.A612C:p.Q204H NADSYN1:NM_018161:exon8:c.A612C:p.Q204H . . 1.0 . . @ 175 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.004 . . 175.0 . . . . . . . . . . -1.5092 -1.236 -1.509 c . . . . . 1.000 . . . 1 1.0000 1 1 1 1 1 0.9999 1 1.0000 1 1 1 1 1 0.9999 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.192 0.0000 . . . 0.36 0.1 182 ENSG00000172890 NADSYN1 NADSYN1 . . . 0.314 0.193 . . . . . . . Benign . 0 . 0.843 . . . . . . . . . 37 . 0.000 . . 0.421 . . . 0.000 0.182 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.087 . 0.447 . HOM 1 rs7950441 1.000 1.000 . . . . . 1.0 1.0 1.0 1.0 1.0 III.35 . ENST00000319023 IV.99 1.V . 1.000000 Q6IA69 . . . . . 0.198 . . . 1 1.0000 1 1 1 1 1.0000 1 1.0000 0.9999 1.0000 1 1 1 1 1 1 . . 0.730 . -0.053 -0.053000 . . 1.000000 . . 1.0E-111 0.838 0.300 . 0.418 0.998 . 0.096 . 0.057 -0.053 0.005 1. rs7950441 rs7950441 rs7950441 rs7950441 1 1538 255 1.I 0,0,255 +rs7950441 11 71184678 A C - NADSYN1 29832 NAD synthetase 1 NM_018161.4 1 2433 2121 NP_060631.2 Q6IA69 substitution missense exon GRCh37 71184678 71184678 Chr11(GRCh37):g.71184678A>C 612 612 NM_018161.4:c.612A>C p.Gln204His p.Gln204His 8 608285 -55 5' 84.5939 VIII.53 0.946414 IX.12 84.5939 VIII.53 0.946414 10.0902 0 Cryptic Acceptor Strongly Activated 71184692 1,00E-06 0.712612 5,00E-06 60.4267 Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase Glutamine-dependent NAD(+) synthetase rs7950441 yes no Frequency/HapMap/1000G 3 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999989 0.999958 1.000000 1.000000 1.000000 0.999968 0.999992 1.000000 1.000000 1.000000 276371 23957 34406 10120 18828 30761 126079 25778 6442 276374 23958 34406 10120 18828 30762 126080 25778 6442 0.999978 0.999916 1.000000 1.000000 1.000000 0.999935 0.999984 1.000000 1.000000 138184 11978 17203 5060 9414 15380 63039 12889 3221 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4146261|COSM4146261 Upper aerodigestive tract|Thyroid 0.018489|0.001339 1244|747 transversion A C A>C 0.992 0.044 Q Gln CAA 0.256 H His CAC 0.587 204 13 1 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 100.90 0.00 Tolerated 1 III.47 good 9.985E-1 0.008862 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . NADSYN1:uc001oqn.3:exon8:c.A612C:p.Q204H NADSYN1:NM_018161:exon8:c.A612C:p.Q204H . . 1.0 . . @ 175 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.004 . . 175.0 . . . . . . . . . . -1.5092 -1.236 -1.509 c . . . . . 1.000 . . . 1 1.0000 1 1 1 1 1 0.9999 1 1.0000 1 1 1 1 1 0.9999 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.849 . . exonic exonic exonic . . 0.192 0.0000 . . . 0.36 0.1 182 ENSG00000172890 NADSYN1 NADSYN1 . . . 0.314 0.193 . . . . . . . Benign . 0 . 0.843 . . . . . . . . . 37 . 0.000 . . 0.421 . . . 0.000 0.182 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.087 . 0.447 . HOM 1 rs7950441 1.000 1.000 . . . . . 1.0 1.0 1.0 1.0 1.0 III.35 . ENST00000319023 IV.99 1.V . 1.000000 Q6IA69 . . . . . 0.198 . . . 1 1.0000 1 1 1 1 1.0000 1 1.0000 0.9999 1.0000 1 1 1 1 1 1 . . 0.730 . -0.053 -0.053000 . . 1.000000 . . 1.0E-111 0.838 0.300 . 0.418 0.998 . 0.096 . 0.057 -0.053 0.005 1. rs7950441 rs7950441 rs7950441 rs7950441 1 1538 255 1.I 0,0,255 +rs200157238 11 73499081 C G - MRPL48 16653 Mitochondrial ribosomal protein L48 NM_001318499.1 1 1103 762 NP_001305428.1 substitution intron GRCh37 73499081 73499081 Chr11(GRCh37):g.73499081C>G 21+44 21+44 NM_001318499.1:c.21+44C>G p.? p.? 1 1 611853 44 5' 81.9786 X.32 0.900836 8.35617 81.9786 X.32 0.900836 8.99287 0 rs200157238 yes no Frequency/1000G 2 C 0.000000 0 0.036142 0.010600 0.065400 0.014900 0.057700 0.043200 0.000008 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000000 0.000067 2 0 0 0 0 2 0 0 0 239276 14904 32392 9562 17012 29954 108350 21828 5274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 56 Exomes 8097 3972 12069 205 42 247 0.0246928 0.0104634 0.0200552 0.0246928 0.0104634 0.0200552 25 transversion C G C>G 0.008 0.044 211 PASS . . . . . 0.011 0.036 0.043 0.015 0.058 0.065 . . . . . 0.15231788 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 151.0 . . INTRON(MODIFIER||||MRPL48|mRNA|CODING|NM_016055|) 0.011 0.02 0.025 0.011 0.02 0.025 . 0.3721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0361 . . . 0.4 0.39 182 ENSG00000175581 MRPL48 MRPL48 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200157238 . . . . . . . . . . . . . . . . . . . . . . . 0.020055 . . . . . 0 8.359e-06 0 0 0 0 0 0 6.677e-05 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.025 . . rs200157238 rs200157238 1 1538 10 1/0 0,237,255 +rs572204787 11 73499106 G C - MRPL48 16653 Mitochondrial ribosomal protein L48 NM_001318499.1 1 1103 762 NP_001305428.1 substitution intron GRCh37 73499106 73499106 Chr11(GRCh37):g.73499106G>C 21+69 21+69 NM_001318499.1:c.21+69G>C p.? p.? 1 1 611853 69 5' 81.9786 X.32 0.900836 8.35617 81.9786 X.32 0.900836 VIII.38 0 rs572204787 no no 0 G 0.000000 0 transversion G C G>C 0.000 0.286 249 PASS . . . . . . . . . . . . . . . . 0.3028169 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . INTRON(MODIFIER||||MRPL48|mRNA|CODING|NM_016055|) . . . . . . . 0.8981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000175581 MRPL48 MRPL48 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs572204787 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,229,255 +rs770072205 11 73499116 C A - MRPL48 16653 Mitochondrial ribosomal protein L48 NM_001318499.1 1 1103 762 NP_001305428.1 substitution intron GRCh37 73499116 73499116 Chr11(GRCh37):g.73499116C>A 21+79 21+79 NM_001318499.1:c.21+79C>A p.? p.? 1 1 611853 79 5' 81.9786 X.32 0.900836 8.35617 81.9786 X.32 0.900836 8.77014 0 rs770072205 no no 0 C 0.000000 0 transversion C A C>A 0.000 -0.037 231 PASS . . . . . . . . . . . . . . . . 0.24475524 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . INTRON(MODIFIER||||MRPL48|mRNA|CODING|NM_016055|) . . . . . . . 0.8573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000175581 MRPL48 MRPL48 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs770072205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs773367700 11 73499123 G A - MRPL48 16653 Mitochondrial ribosomal protein L48 NM_001318499.1 1 1103 762 NP_001305428.1 substitution intron GRCh37 73499123 73499123 Chr11(GRCh37):g.73499123G>A 21+86 21+86 NM_001318499.1:c.21+86G>A p.? p.? 1 1 611853 86 5' 81.9786 X.32 0.900836 8.35617 81.9786 X.32 0.900836 8.35617 0 rs773367700 no no 0 G 0.000000 0 transition G A G>A 0.000 0.690 221 PASS . . . . . . . . . . . . . . . . 0.21582733 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||MRPL48|mRNA|CODING|NM_016055|) . . . . . . . 0.8924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000175581 MRPL48 MRPL48 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773367700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs577905843 11 75897705 T C - WNT11 12776 Wingless-type MMTV integration site family, member 11 NM_004626.2 -1 1927 1065 NP_004617.2 O96014 substitution 3'UTR GRCh37 75897705 75897705 Chr11(GRCh37):g.75897705T>C *404 *404 NM_004626.2:c.*404A>G p.? p.? 5 603699 579 3' 69.5909 7.01215 0.656828 9.12305 69.5909 7.01215 0.656828 9.12305 0 rs577905843 yes no Frequency/1000G 2 T 0.000599 C 3 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.000097 0.000115 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000133 3 1 0 0 0 0 2 0 0 30918 8716 838 302 1618 0 14990 3478 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transition A G A>G 0.000 -0.763 247 PASS . . . . . . 0.0006 . . 0.002 0.001 . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . UTR_3_PRIME(MODIFIER||||WNT11|mRNA|CODING|NM_004626|NM_004626.ex.5) . . . . . . . -0.0319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0006 . . . . . . ENSG00000085741 WNT11 WNT11 ENST00000322563:c.*404A>G . NM_004626:c.*404A>G . . . 37 0.000569441 64976 34 0.000566799 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs577905843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 9.703e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs35409987 11 76062335 G A - THAP12 9440 THAP domain containing 12 NM_004705.3 -1 3323 2286 NP_004696.2 O43422 substitution missense exon GRCh37 76062335 76062335 Chr11(GRCh37):g.76062335G>A 1859 1859 NM_004705.3:c.1859C>T p.Ser620Leu p.Ser620Leu 5 607374 1504 3' 92.6373 VIII.13 0.883106 X.01 92.6373 VIII.13 0.883106 X.01 0 Ribonuclease H-like domain rs35409987 yes no Frequency/1000G 2 G 0.000000 0 0.026557 0.058200 0.014300 0.016900 0.005000 0.028800 0.000721 0.001519 0.002065 0.001095 0.000921 0.000495 0.000384 0.000083 0.000344 0.002065 180 32 61 9 16 13 45 2 2 249574 21072 29536 8216 17374 26266 117098 24200 5812 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 180 32 61 9 16 13 45 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5414444|COSM5414444|COSM5414444 Thyroid|Stomach|Haematopoietic and lymphoid tissue 0.001339|0.001161|0.000850 747|861|3530 transition C T C>T 0.220 2.062 S Ser TCG 0.056 L Leu TTG 0.127 620 -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 183 PASS . . . . . 0.058 0.027 0.029 0.017 0.005 0.014 ENSG00000137492:ENST00000260045:exon5:c.C1859T:p.S620L . PRKRIR:NM_004705:exon5:c.C1859T:p.S620L . . 0.11956522 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.290 . @ . . . . . 1 0.473 . . 92.0 . . . . . . . . . . -0.0526 0.108 -0.053 c . . . . . 1.895e-04 . . . 0.0003 0.0002 0 0 0 9.99e-05 0 0.0008 0.0001 0.0001 0 0.0001 0 7.65e-05 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.252 . . exonic exonic exonic . . 0.756 0.0266 . . . 0.67 0.51 182 ENSG00000137492 PRKRIR PRKRIR . . . 0.028 0.139 . . . . . . . Uncertain_significance . 0 . 0.372 . . . . . . . . . 37 . 0.200 . . 0.106 . . . 0.404 0.229 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.425 . . 0 0 0 0 0 0 . 0.272 . . 0.139 . . . . . . 0 0.421 . . . . . 0.718 . 0.491 . LowAF 0.02 rs35409987 . . . . . . . . . . . . 15.0947 . . V.33 V.33 . 0.350000 O43422 . . Name\x3dnsv521451 . . 0.409 . . V.33 0.0004 0.0007 0.0021 0.0011 0.0008 4.799e-05 0.0004 0.0004 0.0005 0.0038 0.0013 0.0013 0 0.0022 0.0003 0.0003 0 . . 0.924 . 2.713 2.713000 . . 0.350000 . . 1.0E-183 0.185 0.239 . 0.146 0.979 . 0.461 . 0.211 2.713 0.917 . rs35409987 rs35409987 rs35409987 rs35409987 1 1538 10 1/0 0,231,255 +rs4304809 (chr11:76370792 A/G) 11 76370792 A G Transcript NM_005512.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) LRRC32 +rs141925215 11 76726103 A G - ACER3 16066 Alkaline ceramidase 3 NM_018367.6 1 7378 804 NP_060837.3 Q9NUN7 substitution missense exon GRCh37 76726103 76726103 Chr11(GRCh37):g.76726103A>G 541 541 NM_018367.6:c.541A>G p.Ile181Val p.Ile181Val 8 617036 44 3' 86.0921 XII.52 0.972064 5.27216 86.0921 XII.52 0.972064 V.83 0 Ceramidase rs141925215 yes no Frequency/1000G 2 A 0.000000 0 0.000799 0.000000 0.003100 0.000000 0.000000 0.001400 0.000578 0.000000 0.000117 0.000099 0.000000 0.002413 0.000561 0.000310 0.000310 0.002413 160 0 4 1 0 74 71 8 2 276688 24016 34202 10144 18846 30662 126594 25774 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 158 0 4 1 0 72 71 8 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4399 12980 3 1 4 0.000349487 0.000227273 0.000308071 0.000349487 0.000227273 0.000308071 83 transition A G A>G 0.354 -1.812 I Ile ATA 0.163 V Val GTA 0.114 181 12 5 Platypus 3 3 4 0 0 5.II 5.IX 111 84 29 C0 235.27 0.00 Tolerated 1 III.44 255 PASS . 0.0009 0.01 . . . 0.0008 0.0014 . . 0.0031 . . . . . 0.40816328 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.033 . . 49.0 . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0003 . -1.5233 -1.554 -1.523 c . . . . . 6.788e-04 . . . 9.783e-05 0.0008 0.0003 0 0 0.0006 0 0.0026 0.0001 0.0007 0.0003 0 0 0.0004 0 0.0026 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.418 . . exonic exonic exonic . . 0.002 0.0008 . . . 0.42 0.54 182 ENSG00000078124 ACER3 ACER3 . . . 1.000 0.747 . 13 0.000200074 64976 9 0.000150035 59986 Uncertain_significance . 0 . 0.197 . . . . T 0.062 0.003 . . 37 . 0.079 . . 0.174 . . . 0.094 0.192 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.079 . 0.256 . HET 1 . . . . . . . . 9.157509157509158E-4 0.0 0.0055248618784530384 0.0 0.0 III.77 2.68E-4 . V.47 -10.9 . 0.690000 . . . . 0.000308 . 0.054 . . . 0 0.0006 0.0001 0 0 0.0002 0.0005 0.0004 0.0024 0 0.0005 0 0.0033 0 0.0009 0.0009 0 . . 0.609 . -2.889 -2.889000 . . 0.690000 . . 1.0E-255 0.081 0.222 . 0.653 0.970 . 0.091 . 0.251 -2.889 0.090 0.01 . . rs141925215 rs141925215 1 1538 10 1/0 0,255,255 +. 11 76922116 GTTGGGGGTC G - MYO7A 7606 Myosin VIIA NM_000260.3 1 7465 6648 NP_000251.3 Q13402 deletion intron GRCh37 76922121 76922129 Chr11(GRCh37):g.76922121_76922129del 6052-76 6052-68 NM_000260.3:c.6052-76_6052-68del p.? p.? 45 44 276903 -68 3' 89.966 X.88 0.472698 XI.06 89.966 X.88 0.472698 11.1234 0 New Donor Site 76922119 0.873523 0.007977 67.8061 GGGTCTTGG 255 Pass . . . . . . . . . . . . . . . . 0.4680851 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000137474 MYO7A MYO7A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,33 +rs183478463 11 76996300 C T - GDPD4 24849 Glycerophosphodiester phosphodiesterase domain containing 4 NM_182833.2 -1 2597 1563 NP_878253.1 substitution intron GRCh37 76996300 76996300 Chr11(GRCh37):g.76996300C>T -118 -118 NM_182833.2:c.-50-68G>A p.? p.? 3 2 -68 3' 93.8377 X.06 0.985355 5.27388 93.8377 X.06 0.985355 5.29392 0 Cryptic Donor Strongly Activated 76996303 0.001827 61.1764 1.97533 0.030456 65.5387 rs183478463 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.001000 0.004000 0.000000 0.000000 0.001840 0.000000 0.000000 0.013245 0.005556 0.000000 0.000932 0.008014 0.002037 0.013245 57 0 0 4 9 0 14 28 2 30982 8732 838 302 1620 0 15014 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 0 0 4 9 0 14 28 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.360 255 PASS . 0.0018 . 0.01 0.0013 . 0.001 . 0.004 . 0.001 . . . . . 0.37142858 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||GDPD4|mRNA|CODING|NM_182833|) . . . . . . . 0.0643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.31 0.37 182 ENSG00000178795 GDPD4 GDPD4 . . . . . . 58 0.000892637 64976 53 0.000883539 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183478463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0018 0 0.0132 0.0056 0.0080 0.0009 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs183478463 rs183478463 1 1538 10 1/0 0,255,255 +. 11 85347086 T G - TMEM126B 30883 Transmembrane protein 126B NM_018480.5 1 1039 693 NP_060950.3 Q8IUX1 substitution splice site GRCh37 85347086 85347086 Chr11(GRCh37):g.85347086T>G 510-4 510-4 NM_018480.5:c.510-4T>G p.? p.? 5 4 615533 -4 3' 93.8233 12.1717 0.99909 10.0801 93.8233 X.86 0.998985 9.19588 -0.0332574 New Donor Site 85347085 1.1736 0.093243 64.6652 transversion T G T>G 1.000 1.335 255 PASS . . . . . . . . . . . . . . . . 0.71153843 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . I.80 . . . . . . . . 7.896e-06 . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 intronic . . . @ . . . . . . ENSG00000171204 TMEM126B TMEM126B ENST00000534341:c.*260T>G uc001paq.3:c.*260T>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.04 . . . . . . IV.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr11:89577934 A/G) 11 89577934 A G No Alamut gene - other known genes: TRIM53B TRIM53B +. (chr11:89577995 T/C) 11 89577995 T C No Alamut gene - other known genes: TRIM53B TRIM53B +. 11 89648197 A T - TRIM49D1 43973 Tripartite motif containing 49D1 NM_001206627.1 -1 1474 1359 NP_001193556.1 C9J1S8 substitution missense exon GRCh37 89648197 89648197 Chr11(GRCh37):g.89648197A>T 621 621 NM_001206627.1:c.621T>A p.Asp207Glu p.Asp207Glu 3 114 3' 86.7821 7.45431 0.880494 4.47765 86.7821 7.45431 0.880494 4.47765 0 transversion T A T>A 0.000 -2.458 D Asp GAT 0.461 E Glu GAA 0.417 207 11 5 Wallaby 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 II.98 111 PASS . . . . . . . . . . . . TRIM49D2P:uc009yvu.3:exon4:c.T621A:p.D207E . . . 1.0 . . @ 72 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.037 . . 72.0 . . . . . . . . . . -0.5787 -0.275 -0.579 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.024 @ . . . . . . ENSG00000223417 TRIM49D2P . . . . 0.002 0.095 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.313 0.012 . . 37 . . . . . . . . 0.160 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.104 . . . . . . 0 . . . . . . 0.013 . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . . . . . . 1.0E-111 0.000 0.063 . 0.016 0.001 . 0.002 . 0.001 . -0.217 . . . . . 1 1538 255 1.I 0,0,255 +. 11 89648197 A T - TRIM49D2 37217 Tripartite motif containing 49D2 NM_001105522.1 -1 1651 1359 NP_001098992.1 C9J1S8 substitution missense exon GRCh37 89648197 89648197 Chr11(GRCh37):g.89648197A>T 621 621 NM_001105522.1:c.621T>A p.Asp207Glu p.Asp207Glu 4 114 3' 86.7821 7.45431 0.880494 4.47765 86.7821 7.45431 0.880494 4.47765 0 transversion T A T>A 0.000 -2.458 D Asp GAT 0.461 E Glu GAA 0.417 207 11 5 White-tuffed-ear marmoset 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 III.13 111 PASS . . . . . . . . . . . . TRIM49D2P:uc009yvu.3:exon4:c.T621A:p.D207E . . . 1.0 . . @ 72 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.037 . . 72.0 . . . . . . . . . . -0.5787 -0.275 -0.579 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.024 @ . . . . . . ENSG00000223417 TRIM49D2P . . . . 0.002 0.095 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.313 0.012 . . 37 . . . . . . . . 0.160 . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.104 . . . . . . 0 . . . . . . 0.013 . . . HOM 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . . . . . . 1.0E-111 0.000 0.063 . 0.016 0.001 . 0.002 . 0.001 . -0.217 . . . . . 1 1538 255 1.I 0,0,255 +rs200275703 (chr11:89662611 T/A) 11 89662611 T A Not on a known gene +rs111729232 11 89732852 G T - TRIM53AP 19025 Tripartite motif containing 53A, pseudogene NR_028346.1 -1 1730 0 substitution exon GRCh37 89732852 89732852 Chr11(GRCh37):g.89732852G>T 249 249 NR_028346.1:n.249C>A 2 58 3' 89.3218 11.1639 0.971304 7.56069 89.3218 11.1639 0.971304 7.76912 0 rs111729232 no no 0 G 0.000000 0 0.000378 0.000000 0.000000 0.000000 0.001752 0.000000 0.000362 0.000000 0.000000 0.001752 7 0 0 0 5 0 2 0 0 18506 2988 3414 332 2854 2712 5528 214 464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Exomes transversion C A C>A 0.961 -0.360 255 PASS . . . . . . . . . . . . TRIM53AP:uc010rtz.2:exon2:c.C54A:p.C18X . . . 0.41489363 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 94.0 . . STOP_GAINED(HIGH|NONSENSE|tgC/tgA|C83*|TRIM53AP|Non-coding_transcript|NON_CODING|NR_028346.2|NR_028346.2.ex.2) . . . . . . . -0.2454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.73 0.21 182 ENSG00000225581 TRIM53AP TRIM53AP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs111729232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0.0018 0 0.0004 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111729232 rs111729232 1 1538 10 1/0 0,255,255 +rs560569294 11 89820338 T G - UBTFL1 14533 Upstream binding transcription factor, RNA polymerase I-like 1 NM_001143975.1 1 1182 1182 NP_001137447.1 P0CB47 substitution downstream GRCh37 89820338 89820338 Chr11(GRCh37):g.89820338T>G *39 *39 NM_001143975.1:c.*39T>G p.? p.? 1 613696 rs560569294 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000211 0.000089 0.000412 0.000000 0.000563 0.000000 0.000230 0.000000 0.000000 0.000563 11 1 2 0 3 0 5 0 0 52038 11266 4860 998 5330 4156 21742 2214 1472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 2 0 3 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -1.570 255 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.44186047 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . DOWNSTREAM(MODIFIER||||UBTFL1|mRNA|CODING|NM_001143975|) . . . . . . . -0.5369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . 0.0004 . . . . . . ENSG00000255009 UBTFL1 UBTFL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs560569294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0.0005 0 0.0007 0 8.786e-05 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs112825199 11 92615751 T C - FAT3 23112 FAT tumor suppressor homolog 3 (Drosophila) NM_001008781.2 1 19048 13674 NP_001008781.2 substitution intron GRCh37 92615751 92615751 Chr11(GRCh37):g.92615751T>C 12282-153 12282-153 NM_001008781.2:c.12282-153T>C p.? p.? 23 22 612483 -153 3' 82.9881 9.99935 0.859647 3.31328 82.9881 9.99935 0.859647 3.31328 0 rs112825199 yes no Frequency/1000G 2 T 0.000000 0 0.295327 0.344200 0.287300 0.302600 0.281300 0.223300 transition T C T>C 0.000 -0.279 111 PASS . . . . . 0.34 0.3 0.22 0.3 0.28 0.29 . . . . . 0.42857143 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||FAT3|mRNA|CODING|NM_001008781|) . . . . . . . -0.5356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2953 . . . 0.31 0.41 182 ENSG00000165323 FAT3 FAT3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112825199 0.087 0.065 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv898173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.087 . . rs112825199 rs112825199 1 1538 10 1/0 100,2,0 +rs762859697 11 94278628 C A - FUT4 4015 Fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) NM_002033.3 1 6048 1593 NP_002024.1 P22083 substitution missense exon GRCh37 94278628 94278628 Chr11(GRCh37):g.94278628C>A 1329 1329 NM_002033.3:c.1329C>A p.Asp443Glu p.Asp443Glu 1 104230 Glycosyl transferase, family 10 rs762859697 yes no Frequency 1 C 0.000000 0 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000087 0.000000 0.000155 0.000087 12 0 0 0 0 0 11 0 1 276400 23982 34410 10120 18844 30758 126116 25720 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.646 0.770 D Asp GAC 0.539 E Glu GAA 0.417 443 11 6 Dog 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 249.02 0.00 Tolerated 0.19 III.72 good 1.29E-1 0.3387 255 PASS . . . . . . . . . . . ENSG00000196371:ENST00000358752:exon1:c.C1329A:p.D443E FUT4:uc001pez.3:exon1:c.C1329A:p.D443E FUT4:NM_002033:exon1:c.C1329A:p.D443E . . 0.47692308 . . @ 93 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.274 . @ . . . . . 1 0.343 . . 195.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D443E|FUT4|mRNA|CODING|NM_002033|NM_002033.ex.1) . . . . . . . -0.4695 -0.609 -0.470 c . . . . . 6.316e-05 . . . 0 5.595e-05 0 0 0 0.0001 0 0 0 3.789e-05 0 0 0 7.397e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.106 @ . . . . . . ENSG00000196371 FUT4 FUT4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.125 . . . . T 0.324 0.013 . . 37 . 0.249 . . 0.168 . . . 0.361 0.231 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.307 . . 0 0 0 0 0 0 . 0.407 . . 0.450 . . . . . . 0 0.348 . . . . . 0.181 . 0.213 . HET 0.36 rs762859697 . . . . . . . . . . . . V.21 . ENST00000358752 IV.93 -0.719 . 0.030000 P22083 . . Name\x3desv2671948 . . 0.229 . . . 0 4.074e-05 0 0 0 0 8.999e-05 0 0 0 6.464e-05 0 0 0 0 6.669e-05 0.0010 . . 0.872 . -0.343 -0.343000 . . 0.030000 . . 1.0E-255 0.001 0.137 . 0.117 0.735 . 0.109 . 0.151 -0.343 0.008 . . . . . 1 1538 10 1/0 0,230,251 +. (chr11:94699507 A/AG) 11 94699507 A AG Not on a known gene +. 11 94800902 G GC - SRSF8 16988 Serine/arginine-rich splicing factor 8 NR_103726.1 1 3876 0 duplication exon GRCh37 94800903 94800904 Chr11(GRCh37):g.94800903dup 863 863 NR_103726.1:n.863dup 1 603269 -443 5' 62.3256 0 0.009021 0 62.3256 0 0.009021 0 0 Cryptic Acceptor Strongly Activated 94800917 6.87149 0.218997 81.2313 8.50106 0.478307 81.2313 rs5793709 yes no Frequency/1000G 2 0.000000 0 0.999800 1.000000 1.000000 0.999000 1.000000 1.000000 0.999993 0.999958 0.999971 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 277132 24009 34419 10146 18864 30782 126666 25788 6458 277134 24010 34420 10146 18864 30782 126666 25788 6458 0.999986 0.999917 0.999942 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 138565 12004 17209 5073 9432 15391 63333 12894 3229 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 4 4 8012 3916 11928 0 0.00102041 0.000335233 1 0.99898 0.999665 42 C 255 Pass 0.99 1. 0.99 1. 1. 1. 1. 1. 1. 1. 1. UNKNOWN . UNKNOWN . . 0.9748744 . . . 194 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 199 . . . 1. 1. 1. 1. 1. 1. . . . . . . . . . . 1.00 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 unknown . unknown . . . exonic\x3bsplicing splicing exonic . . . . . . . . . . ENSG00000271885\x3bENSG00000180771 SRSF8 SRSF8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs5793709 0.065 0.043 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv898188 0.999832 . . . . . 1 1.0000 1.0000 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11410745 rs5793709 rs5793709 1 1538 255 1.I 0,0,255 +rs116872934 11 103153758 G C - DYNC2H1 2962 Dynein cytoplasmic 2 heavy chain 1 NM_001080463.1 1 13699 12945 NP_001073932.1 substitution missense exon GRCh37 103153758 103153758 Chr11(GRCh37):g.103153758G>C 10855 10855 NM_001080463.1:c.10855G>C p.Asp3619His p.Asp3619His 74 603297 22 3' 86.1268 4.35204 0.504307 2.40591 86.1268 4.35204 0.504307 2.0283 0 Dynein heavy chain domain rs116872934 yes no Frequency/1000G 2 G benign,likely_benign 0.000000 0 0.005192 0.000000 0.000000 0.000000 0.007000 0.027400 0.007464 0.001606 0.029942 0.005578 0.000000 0.002497 0.006418 0.001323 0.006194 0.029942 2025 38 984 56 0 74 800 34 39 271298 23664 32864 10040 18468 29634 124642 25690 6296 0.000155 0.000000 0.001156 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 21 0 19 0 0 0 2 0 0 1983 38 946 56 0 74 796 34 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8068 3647 11715 60 5 65 0.00738189 0.00136911 0.00551783 0.00738189 0.00136911 0.00551783 66 RCV000321176.2|RCV000204292.3|RCV000390967.1 germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Conflicting interpretations of pathogenicity|Likely benign 2|1|1 not specified|Jeune thoracic dystrophy|Short Rib Polydactyly Syndrome transversion G C G>C 1.000 3.918 D Asp GAT 0.461 H His CAT 0.413 3619 28 24 Western painted turtle 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 147.78 13.17 Deleterious 0.04 III.58 good 1.727E-1 0.1989 255 PASS . 0.01 0.03 . 0.01 . 0.0052 0.027 . 0.007 . . . . . . 0.33333334 . . germline 7 . . 1.2.2016 0 0 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.457 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign//\%//\@Likely//\@benign other|Benign|Likely_benign RCV000204292.2|RCV000321176.1|RCV000390967.1 Jeune_thoracic_dystrophy|not_specified|Short_Rib_Polydactyly_Syndrome MedGen:SNOMED_CT|MedGen|MedGen C0265275:75049004|CN169374|C0036996 1 0.661 . . 21.0 . . . 0.0014 0.0055 0.0074 0.0014 0.0055 0.0074 . 0.2587 0.402 0.259 c . . . . . 6.796e-03 . . . 0.0018 0.0078 0.0320 0 0.0006 0.0067 0.0077 0.0019 0.0016 0.0075 0.0319 0 0.0010 0.0071 0.0048 0.0019 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.085 . . exonic exonic exonic . . 0.793 0.0052 . . . 0.48 0.43 182 ENSG00000187240 DYNC2H1 DYNC2H1 . . . 0.916 0.265 . 320 0.0049249 64976 294 0.00490114 59986 Likely_benign . 0 . 0.011 . . . . . . . . . 37 . 0.066 . . 0.099 . . . 0.351 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.456 . . 0 0 0 0 0 0 . 0.436 . . 0.520 . . . . . . 0 0.419 . . . . . 0.892 . 0.747 . HET 0.03 rs116872934 0.011 0.007 . . . . . 0.007326007326007326 0.0 0.03038674033149171 0.0 0.006596306068601583 18.0381 0.001687 . V.44 V.44 . 0.050000 . . . . 0.005518 . 0.718 . . V.44 0.0015 0.0079 0.0301 0.0058 0 0.0014 0.0065 0.0062 0.0025 0.0017 0.0043 0.0239 0 0 0.0006 0.0059 0.0061 . . 0.609 . 2.551 2.551000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.736 . 0.613 2.551 0.917 0.03 . . rs116872934 rs116872934 1 1538 10 1/0 0,255,255 +rs201418928 11 106888667 T G - GUCY1A2 4684 Guanylate cyclase 1, soluble, alpha 2 NM_001256424.1 -1 16219 2292 NP_001243353.1 substitution missense exon GRCh37 106888667 106888667 Chr11(GRCh37):g.106888667T>G 115 115 NM_001256424.1:c.115A>C p.Ser39Arg p.Ser39Arg 1 601244 -189 5' 76.8168 9.10332 0.929727 14.5202 76.8168 9.10332 0.929727 14.5202 0 rs201418928 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.001320 0.000332 0.000434 0.000000 0.000000 0.000062 0.002338 0.000662 0.000892 0.002338 216 5 6 0 0 1 187 14 3 163696 15046 13836 5508 8604 16226 79978 21134 3364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 216 5 6 0 0 1 187 14 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8282 4245 12527 18 1 19 0.00216867 0.000235516 0.00151443 0.00216867 0.000235516 0.00151443 7 transversion A C A>C 1.000 1.093 S Ser AGC 0.243 R Arg CGC 0.190 39 11 6 Frog -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . 0.0004 0.0014 . 0.001 . . . . . . 0.6041667 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.361 . @ . . . . . 1 0.218 . . 48.0 . . . 0.0002 0.0015 0.0022 0.0002 0.0015 0.0022 . -0.5052 -0.486 -0.505 c . . . . . 1.220e-03 . . . 0.0006 0.0018 0.0009 0 0 0.0035 0 0 0.0007 0.0021 0.0009 0 0.0008 0.0034 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.860 . . exonic exonic exonic . . 0.268 0.0004 . . . 0.28 0.35 182 ENSG00000152402 GUCY1A2 GUCY1A2 . . . 1.000 0.517 . 60 0.000923418 64976 58 0.000966892 59986 Uncertain_significance . 0 . . . . . . D 0.990 0.867 . . 37 . 0.783 . . 0.722 . . . 0.225 0.378 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.174 . . 0 0 0 0 0 0 . 0.312 . . 0.324 . . . . . . 0 0.166 . . . . . 0.271 . 0.547 . HET 0.2 rs201418928 . . . . . . . . . . . . VII.03 2.77E-4 . III.34 II.19 . 0.110000 . . . . 0.001514 . 0.193 . . II.19 0.0003 0.0012 0.0004 0 0 0.0007 0.0022 0.0008 6.163e-05 0.0004 0.0017 0.0015 0 0 0.0004 0.0031 0.0011 . . 0.319 . 0.360 0.360000 . . 0.110000 . . 1.0E-255 1.000 0.715 . 0.300 0.999 . 0.217 . 0.309 0.360 0.970 0.0022 . . rs201418928 rs201418928 1 1538 10 1/0 0,255,255 +. 11 111395601 T C - C11orf88 25061 Chromosome 11 open reading frame 88 NM_207430.2 1 795 591 NP_997313.2 substitution intron GRCh37 111395601 111395601 Chr11(GRCh37):g.111395601T>C 340-7 340-7 NM_207430.2:c.340-7T>C p.? p.? 4 3 -7 3' 89.0656 X.49 0.995856 11.929 89.0656 11.0124 0.994027 XII.89 0.00768498 transition T C T>C 0.008 0.528 255 PASS . . . . . . . . . . . . . . . . 0.5833333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000254980 C11orf88 C11orf88 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 11 111853106 G GC - DIXDC1 23695 DIX domain containing 1 NM_001037954.3 1 5963 2052 NP_001033043.1 Q155Q3 duplication frameshift exon NG_033127.1 60242 60243 NG_033127.1:g.60242dup 815 815 NM_001037954.3:c.815dup p.Gly273Trpfs*44 p.Gly273Trpfs*44 7 610493 46 3' 88.5427 9.96207 0.995549 8.14724 88.5427 9.96207 0.995549 7.64304 0 rs11455434 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999989 1.000000 1.000000 1.000000 0.999894 1.000000 0.999992 1.000000 1.000000 1.000000 277059 23998 34402 10150 18864 30776 126633 25784 6452 277062 23998 34402 10150 18866 30776 126634 25784 6452 0.999978 1.000000 1.000000 1.000000 0.999788 1.000000 0.999984 1.000000 1.000000 138528 11999 17201 5075 9431 15388 63316 12892 3226 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 1 1 7840 3553 11393 0 0.000281373 8.77655e-05 1 0.999719 0.999912 43 C 255 Pass . . . . . 1. 1. 1. 1. 1. 1. . . UNKNOWN . . 1.0 . . . 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 48 . . . . . . 1. 1. 1. . . . . . . . . . . 1.00 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . unknown . . . splicing splicing exonic . . . . . . . . . . ENSG00000150764 DIXDC1 DIXDC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11455434 0.022 0.022 . . . . . . . . . . . . . . . . . . . . Name\x3desv2745077 . . . . . . 1 1.0000 1 1 0.9999 1 1.0000 1 1 1 1.0000 1 1 0.9994 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs11455434 rs11455434 1 1538 255 1.I 0,0,255 +rs142447171 11 113144387 C A - NCAM1 7656 Neural cell adhesion molecule 1 NM_181351.4 1 5992 2577 NP_851996.2 P13591 substitution intron NG_032036.1 317419 317419 NG_032036.1:g.317419C>A 2457-1602 2457-1602 NM_181351.4:c.2457-1602C>A p.? p.? 20 19 116930 -1602 3' 91.083 X.05 0.970977 9.70709 91.083 X.05 0.970977 9.70709 0 New Acceptor Site 317421 6.83589 0.329858 82.5284 rs142447171 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000800 0.003100 0.000000 0.004000 0.001400 0.003562 0.000872 0.000448 0.000000 0.001128 0.008352 0.003792 0.010348 0.001744 0.010348 571 13 11 0 13 188 247 91 8 160324 14904 24536 8340 11520 22510 65132 8794 4588 0.000062 0.000000 0.000000 0.000000 0.000000 0.000355 0.000000 0.000227 0.000000 5 0 0 0 0 4 0 1 0 561 13 11 0 13 180 247 89 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 1.000 255 PASS 0.002 0.0027 0.0028 . 0.01 0.0008 0.0018 0.0014 . 0.004 0.0031 . NCAM1:uc001pnt.3:exon1:c.C78A:p.P26P . . . 0.46464646 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . . . . . . . . . . 3.840e-03 . . . 0.0018 0.0056 0.0111 0 0 0.0006 0.0077 0.0081 0.0040 0.0062 0.0141 0 0 0.0008 0.0086 0.0081 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0018 . . . 0.64 0.55 182 ENSG00000227487 NCAM1 NCAM1-AS1 . . . . . . 270 0.00415538 64976 261 0.00435102 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.16 0.0010 0.0035 0.0005 0 0.0013 0.01 0.0036 0.0019 0.0084 0.0008 0.0037 0 0 0 0.0109 0.0045 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs142447171 rs142447171 1 1538 10 1/0 0,254,255 +rs142447171 11 113144387 C A - NCAM1-AS1 48675 NCAM1 antisense RNA1 NR_034101.1 -1 713 0 substitution exon GRCh37 113144387 113144387 Chr11(GRCh37):g.113144387C>A 237 237 NR_034101.1:n.237G>T 1 -42 5' 77.6593 3.77335 0.131316 0.703182 77.6593 3.77335 0.131316 0.793011 0 rs142447171 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000800 0.003100 0.000000 0.004000 0.001400 0.003562 0.000872 0.000448 0.000000 0.001128 0.008352 0.003792 0.010348 0.001744 0.010348 571 13 11 0 13 188 247 91 8 160324 14904 24536 8340 11520 22510 65132 8794 4588 0.000062 0.000000 0.000000 0.000000 0.000000 0.000355 0.000000 0.000227 0.000000 5 0 0 0 0 4 0 1 0 561 13 11 0 13 180 247 89 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 1.000 1.093 255 PASS 0.002 0.0027 0.0028 . 0.01 0.0008 0.0018 0.0014 . 0.004 0.0031 . NCAM1:uc001pnt.3:exon1:c.C78A:p.P26P . . . 0.46464646 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . . . . . . . . . . 3.840e-03 . . . 0.0018 0.0056 0.0111 0 0 0.0006 0.0077 0.0081 0.0040 0.0062 0.0141 0 0 0.0008 0.0086 0.0081 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0018 . . . 0.64 0.55 182 ENSG00000227487 NCAM1 NCAM1-AS1 . . . . . . 270 0.00415538 64976 261 0.00435102 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.16 0.0010 0.0035 0.0005 0 0.0013 0.01 0.0036 0.0019 0.0084 0.0008 0.0037 0 0 0 0.0109 0.0045 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs142447171 rs142447171 1 1538 10 1/0 0,254,255 +rs367567317 11 113568076 C T - TMPRSS5 14908 Transmembrane protease, serine 5 NM_030770.3 -1 2237 1374 NP_110397.2 Q9H3S3 substitution stop gain exon GRCh37 113568076 113568076 Chr11(GRCh37):g.113568076C>T 393 393 NM_030770.3:c.393G>A p.Trp131* p.Trp131* 5 606751 65 3' 78.911 5.16181 0.070432 2.39143 78.911 5.16181 0.070432 2.63891 0 rs367567317 yes no Frequency 1 C 0.000000 0 0.000130 0.000000 0.000058 0.000000 0.000000 0.000000 0.000253 0.000000 0.000310 0.000253 36 0 2 0 0 0 32 0 2 276810 24014 34416 10148 18868 30780 126338 25792 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 0 2 0 0 0 32 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8447 4082 12529 3 0 3 0.00035503 0 0.000239387 0.00035503 0 0.000239387 50 transition G A G>A 1.000 4.564 W Trp TGG 1.000 * * TGA 0.489 131 255 PASS . . . . . . . . . . . . . . . . 0.43589744 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.975 . @ . . . . . 0 0.741 . . 39.0 . . . . 0.0002 0.0004 . 0.0002 0.0004 . 0.7757 0.629 0.776 c . . . . . 1.674e-04 . . . 0 0.0002 8.67e-05 0 0 0.0003 0 0 0 0.0001 8.935e-05 0 0 0.0002 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.750 @ . . . 0.69 0.62 182 ENSG00000166682 TMPRSS5 TMPRSS5 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.790 . . . HET 0.13 rs367567317 . . . . . . . . . . . . 15.8909 0.0 . V.31 V.31 . 1.000000 . . . . 0.000239 . 0.605 . . V.31 0 0.0001 5.956e-05 0 0 0 0.0003 0.0004 0 0 0.0001 0 0 0 0 0.0003 0 . . 0.372 . 2.467 2.467000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.418 0.997 . 0.637 . 0.362 2.467 0.871 0.0004 . . rs367567317 rs367567317 1 1538 10 1/0 0,255,255 +rs45570432 11 113678765 T C - USP28 12625 Ubiquitin specific peptidase 28 NM_001346252.1 -1 4854 3420 NP_001333181.1 substitution missense exon GRCh37 113678765 113678765 Chr11(GRCh37):g.113678765T>C 2398 2398 NM_001346252.1:c.2398A>G p.Thr800Ala p.Thr800Ala 19 610748 -93 5' 68.9897 6.61826 0.585975 3.79331 68.9897 6.61826 0.585975 3.79331 0 rs45570432 yes no Frequency/1000G 2 T 0.000000 0 0.002796 0.000800 0.003100 0.000000 0.008000 0.002900 0.007016 0.001377 0.004812 0.001095 0.000000 0.002486 0.011240 0.015350 0.008556 0.015350 696 20 59 3 0 22 485 82 25 99206 14522 12260 2740 9422 8848 43150 5342 2922 0.000081 0.000000 0.000163 0.000000 0.000000 0.000000 0.000139 0.000000 0.000000 4 0 1 0 0 0 3 0 0 688 20 57 3 0 22 479 82 25 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.331 -0.037 T Thr ACT 0.243 A Ala GCT 0.263 800 12 1 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.86 IV.32 255 PASS 0.002 0.0037 0.0028 . 0.01 0.0008 0.0028 0.0029 . 0.008 0.0031 UNKNOWN . . . . 0.5409836 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.5844 . . . . . . . . 3.581e-03 . . . 0.0018 0.0100 0.0085 0 0.1304 0.0093 0 0.0172 0.0049 0.0183 0.0115 0 0.1379 0.0160 0 0.0180 unknown . . . . . exonic intronic intronic . . . 0.0028 . . . 0.38 0.17 182 ENSG00000048028 USP28 USP28 . . . . . . 869 0.0133742 64976 856 0.01427 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45570432 . . . . . . . 0.003663003663003663 0.0020325203252032522 0.0027624309392265192 0.0 0.0079155672823219 5.159 . ENST00000538224 V.35 1.I . . . . . Name\x3dnsv832273 . . . . . . 0.0012 0.0068 0.0052 0.0012 0 0.0152 0.0119 0.0067 0.0025 0.0015 0.0074 0 0 0 0.0155 0.0100 0.0122 . . . . 0.019 0.019000 . . . . . 1.0E-255 . . . . . . . . . 0.019 . 0.01 rs45570432 rs45570432 rs45570432 rs45570432 1 1538 10 1/0 0,255,255 +rs3088357 11 114121292 C T - ZBTB16 12930 Zinc finger and BTB domain containing 16 NM_001018011.2 1 8405 2022 NP_001018011.1 Q05516 substitution 3'UTR GRCh37 114121292 114121292 Chr11(GRCh37):g.114121292C>T *15 *15 NM_001018011.2:c.*15C>T p.? p.? 7 176797 245 3' 80.07 XII.83 0.939454 14.5702 80.07 XII.83 0.939454 14.5702 0 rs3088357 yes no Frequency/1000G 2 C 0.000000 0 0.004992 0.000800 0.001000 0.000000 0.012900 0.014400 0.007025 0.001934 0.003576 0.006431 0.000106 0.002502 0.010723 0.009101 0.006884 0.010723 1933 46 123 65 2 77 1343 233 44 275150 23790 34398 10108 18844 30772 125244 25602 6392 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000112 0.000000 0.000000 7 0 0 0 0 0 7 0 0 1919 46 123 65 2 77 1329 233 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8503 4389 12892 89 13 102 0.0103585 0.0029532 0.00784978 0.0103585 0.0029532 0.00784978 30 transition C T C>T 0.000 -0.440 213 PASS . 0.01 0.02 . 0.01 0.0008 0.005 0.014 . 0.013 0.001 . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . 0.003 0.0078 0.01 0.003 0.0078 0.01 . . . . . . . . . . 6.829e-03 . . . 0.0024 0.0057 0.0026 0 0.0079 0.0092 0.0144 0.0024 0.0026 0.0064 0.0025 0 0.0079 0.0098 0.0147 0.0024 . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0050 . . . 0.31 0.66 182 ENSG00000256947 ZBTB16 ZBTB16 . . . . . . 613 0.00943425 64976 588 0.00980229 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3088357 . . . . . . . . . . . . . . . . . . . . . . . 0.007850 . . . . . 0.0020 0.0070 0.0036 0.0064 0.0001 0.0089 0.0108 0.0061 0.0025 0.0017 0.0072 0.0036 0.0066 0 0.0102 0.0104 0.0117 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.02 rs3088357 rs3088357 rs3088357 rs3088357 1 1538 10 1/0 0,255,255 +. (chr11:117007411 G/A) 11 117007411 G A Not on a known gene +rs2170320 11 117056607 A G - SIDT2 24272 SID1 transmembrane family, member 2 NM_001040455.1 1 3919 2499 NP_001035545.1 Q8NBJ9 substitution intron GRCh37 117056607 117056607 Chr11(GRCh37):g.117056607A>G 869-239 869-239 NM_001040455.1:c.869-239A>G p.? p.? 9 8 617551 -239 3' 78.727 9.18147 0.7623 8.83099 78.727 9.18147 0.7623 8.83099 0 rs2170320 no no 0 G 0.000000 0 0.001078 0.001905 0.000000 0.000000 0.000000 0.000000 0.000727 0.001661 0.000000 0.001905 11 7 0 0 0 0 3 1 0 10204 3674 242 94 1186 0 4126 602 280 0.090909 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 7 5 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 100 Genomes transition A G A>G 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.61538464 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 13.0 . . INTRON(MODIFIER||||SIDT2|mRNA|CODING|NM_001040455|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.13 182 ENSG00000149577 SIDT2 SIDT2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2170320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0011 0 0 0 0.0017 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2170320 rs2170320 rs2170320 rs2170320 1 1538 10 1/0 0,255,255 +rs2170319 11 117056609 A G - SIDT2 24272 SID1 transmembrane family, member 2 NM_001040455.1 1 3919 2499 NP_001035545.1 Q8NBJ9 substitution intron GRCh37 117056609 117056609 Chr11(GRCh37):g.117056609A>G 869-237 869-237 NM_001040455.1:c.869-237A>G p.? p.? 9 8 617551 -237 3' 78.727 9.18147 0.7623 8.83099 78.727 9.18147 0.7623 8.83099 0 rs2170319 no no 0 G 0.000000 0 0.007409 0.022139 0.013298 0.000000 0.000000 0.000000 0.000262 0.001695 0.004425 0.022139 117 106 5 0 0 0 2 2 2 15792 4788 376 164 1210 0 7622 1180 452 0.076923 0.066038 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 9 7 1 0 0 0 0 0 1 37 7 0 0 0 0 27 0 3 0 0 0 0 0 0 0 0 0 PASS 54 Genomes transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.5714286 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . INTRON(MODIFIER||||SIDT2|mRNA|CODING|NM_001040455|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.13 182 ENSG00000149577 SIDT2 SIDT2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2170319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0221 0.0074 0.0133 0 0 0.0017 0.0003 0.0044 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs2170319 rs2170319 1 1538 10 1/0 0,255,255 +rs373961831 11 117078486 A G - PCSK7 8748 Proprotein convertase subtilisin/kexin type 7 NM_004716.3 -1 3915 2358 NP_004707.2 Q16549 substitution intron GRCh37 117078486 117078486 Chr11(GRCh37):g.117078486A>G 1786+200 1786+200 NM_004716.3:c.1786+200T>C p.? p.? 14 14 604872 200 5' 82.5954 11.1124 0.984324 8.26924 82.5954 11.1124 0.984324 8.26924 0 rs373961831 yes no Frequency 1 A 0.000000 0 0.009124 0.001510 0.004280 0.022637 0.000192 0.011457 0.010743 0.012308 0.008874 0.022637 1537 23 101 183 2 234 733 220 41 168462 15234 23598 8084 10396 20424 68232 17874 4620 0.000071 0.000000 0.000085 0.000000 0.000000 0.000294 0.000059 0.000000 0.000000 6 0 1 0 0 3 2 0 0 1525 23 99 183 2 228 729 220 41 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.016 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.3561644 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . . . . . . . . . . 4.545e-03 . . . 0.0043 0.0135 0 0 0.0263 0.0171 0.0244 0.0130 0 0.0138 0 0 0.0263 0.0201 0.0268 0.0131 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000160613 PCSK7 PCSK7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs373961831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0091 0.0043 0.0221 0.0002 0.0120 0.0103 0.0073 0.0115 0.0015 0.0091 0.0037 0.0374 0 0.0136 0.0125 0.0150 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs373961831 rs373961831 1 1538 10 1/0 0,232,255 +rs373961831 11 117078486 A G - TAGLN 11553 Transgelin NM_001001522.2 1 4260 606 NP_001001522.1 Q01995 substitution downstream GRCh37 117078486 117078486 Chr11(GRCh37):g.117078486A>G *3411 *3411 NM_001001522.2:c.*3411A>G p.? p.? 5 600818 3556 3' 84.7828 11.0804 0.96159 9.71786 84.7828 11.0804 0.96159 9.71786 0 New Donor Site 117078485 0.367444 0.016443 60.346 rs373961831 yes no Frequency 1 A 0.000000 0 0.009124 0.001510 0.004280 0.022637 0.000192 0.011457 0.010743 0.012308 0.008874 0.022637 1537 23 101 183 2 234 733 220 41 168462 15234 23598 8084 10396 20424 68232 17874 4620 0.000071 0.000000 0.000085 0.000000 0.000000 0.000294 0.000059 0.000000 0.000000 6 0 1 0 0 3 2 0 0 1525 23 99 183 2 228 729 220 41 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.016 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.3561644 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . . . . . . . . . . 4.545e-03 . . . 0.0043 0.0135 0 0 0.0263 0.0171 0.0244 0.0130 0 0.0138 0 0 0.0263 0.0201 0.0268 0.0131 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000160613 PCSK7 PCSK7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs373961831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0091 0.0043 0.0221 0.0002 0.0120 0.0103 0.0073 0.0115 0.0015 0.0091 0.0037 0.0374 0 0.0136 0.0125 0.0150 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs373961831 rs373961831 1 1538 10 1/0 0,232,255 +rs117095102 11 118399289 G A - KMT2A 7132 Lysine (K)-specific methyltransferase 2A NM_001197104.1 1 16594 11919 NP_001184033.1 substitution downstream GRCh37 118399289 118399289 Chr11(GRCh37):g.118399289G>A *6402 *6402 NM_001197104.1:c.*6402G>A p.? p.? 36 159555 6678 3' 87.334 VIII.71 0.804094 8.99409 87.334 VIII.71 0.804094 8.99409 0 rs117095102 yes no Frequency/1000G 2 G 0.000000 0 0.005391 0.000800 0.005100 0.000000 0.016900 0.005800 0.009642 0.001759 0.002516 0.004603 0.000000 0.006101 0.013550 0.017453 0.010543 0.017453 2159 40 60 26 0 119 1456 406 52 223922 22740 23848 5648 16536 19504 107452 23262 4932 0.000125 0.000000 0.000000 0.000000 0.000000 0.000103 0.000112 0.000516 0.000406 14 0 0 0 0 1 6 6 1 2131 40 60 26 0 117 1444 394 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8480 4389 12869 110 11 121 0.0128056 0.0025 0.00931486 0.0128056 0.0025 0.00931486 54 transition G A G>A 0.000 -0.037 255 PASS 0.002 0.01 0.01 . 0.02 0.0008 0.0054 0.0058 . 0.017 0.0051 . . . . . 0.5068493 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . 0.0025 0.0093 0.013 0.0025 0.0093 0.013 . . . . . . . . . . 9.898e-03 . . . 0.0017 0.0081 0.0022 0 0.0205 0.0117 0.0066 0.0068 0.0015 0.0100 0.0022 0 0.0186 0.0142 0.0051 0.0069 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0054 . . . 0.43 0.11 182 ENSG00000255435 TTC36 LOC101929089 . . . . . . 694 0.0106809 64976 667 0.0111193 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1319n71 0.009315 . . . . . 0.0016 0.0097 0.0026 0.0045 0 0.0174 0.0137 0.0104 0.0061 0.0019 0.0091 0.0012 0.0066 0 0.0178 0.0126 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs117095102 rs117095102 1 1538 10 1/0 0,255,255 +rs117095102 11 118399289 G A - TTC36 33708 Tetratricopeptide repeat domain 36 NM_001080441.1 1 679 570 NP_001073910.1 A6NLP5 substitution intron GRCh37 118399289 118399289 Chr11(GRCh37):g.118399289G>A 119-29 119-29 NM_001080441.1:c.119-29G>A p.? p.? 2 1 -29 3' 79.0656 6.43897 0.745701 7.32951 79.0656 6.43897 0.745701 7.22238 0 rs117095102 yes no Frequency/1000G 2 G 0.000000 0 0.005391 0.000800 0.005100 0.000000 0.016900 0.005800 0.009642 0.001759 0.002516 0.004603 0.000000 0.006101 0.013550 0.017453 0.010543 0.017453 2159 40 60 26 0 119 1456 406 52 223922 22740 23848 5648 16536 19504 107452 23262 4932 0.000125 0.000000 0.000000 0.000000 0.000000 0.000103 0.000112 0.000516 0.000406 14 0 0 0 0 1 6 6 1 2131 40 60 26 0 117 1444 394 50 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8480 4389 12869 110 11 121 0.0128056 0.0025 0.00931486 0.0128056 0.0025 0.00931486 54 transition G A G>A 0.000 -0.037 255 PASS 0.002 0.01 0.01 . 0.02 0.0008 0.0054 0.0058 . 0.017 0.0051 . . . . . 0.5068493 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . . 0.0025 0.0093 0.013 0.0025 0.0093 0.013 . . . . . . . . . . 9.898e-03 . . . 0.0017 0.0081 0.0022 0 0.0205 0.0117 0.0066 0.0068 0.0015 0.0100 0.0022 0 0.0186 0.0142 0.0051 0.0069 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0054 . . . 0.43 0.11 182 ENSG00000255435 TTC36 LOC101929089 . . . . . . 694 0.0106809 64976 667 0.0111193 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1319n71 0.009315 . . . . . 0.0016 0.0097 0.0026 0.0045 0 0.0174 0.0137 0.0104 0.0061 0.0019 0.0091 0.0012 0.0066 0 0.0178 0.0126 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs117095102 rs117095102 1 1538 10 1/0 0,255,255 +rs6589671 11 118529078 G C - PHLDB1 23697 Pleckstrin homology-like domain, family B, member 1 NM_001144758.2 1 5479 4134 NP_001138230.1 Q86UU1 substitution downstream GRCh37 118529078 118529078 Chr11(GRCh37):g.118529078G>C *1545 *1545 NM_001144758.2:c.*1545G>C p.? p.? 23 612834 1686 3' 88.0945 9.62813 0.888314 13.5741 88.0945 9.62813 0.888314 13.5741 0 rs6589671 yes no Frequency/HapMap/1000G 3 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999981 1.000000 1.000000 1.000000 1.000000 1.000000 0.999959 1.000000 1.000000 1.000000 266353 22770 33670 9910 18414 29200 121935 24186 6268 266358 22770 33670 9910 18414 29200 121940 24186 6268 0.999962 1.000000 1.000000 1.000000 1.000000 1.000000 0.999918 1.000000 1.000000 133174 11385 16835 4955 9207 14600 60965 12093 3134 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4590675 Upper aerodigestive tract 0.018489 1244 transversion G C G>C 0.000 -2.135 111 PASS 1. 1. 1. 0.99 1. 1. 1. 1. 1. 1. 1. . . UNKNOWN . . 1.0 . . @ 32 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 32.0 . . . . . . . . . . -1.9060 . . . . . . . . 1.000 . . . 0.9999 1.0000 0.9999 0.9998 1 1.0000 1 1 0.9999 0.9999 0.9999 0.9999 1 1.0000 1 1 nonsynonymous_SNV nonsynonymous_SNV unknown . . . exonic exonic exonic . . . 0.0000 . . . 0.23 0.42 182 ENSG00000118094 TREH TREH . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM 1 . 0.989 0.993 . . . . . 0.9986263736263736 1.0 1.0 0.9947552447552448 1.0 II.62 . . V.26 -9.7 . 0.270000 . . . . . . . . . . 1 1.0000 1 1 1 1 1.0000 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . -1.997 -1.997000 . . 0.270000 . . 1.0E-111 . . . . . . . . . -1.997 . 1. rs6589671 rs6589671 rs6589671 rs6589671 1 1538 255 1.I 0,0,255 +rs6589671 (chr11:118529078 G/C) 11 118529078 G C Transcript NM_007180.2: Miscalled variant? (Assembly: NG_023321.1) TREH +rs150696870 11 122526821 G C - UBASH3B 29884 Ubiquitin associated and SH3 domain containing B NM_032873.4 1 6903 1950 NP_116262.2 Q8TF42 substitution missense exon GRCh37 122526821 122526821 Chr11(GRCh37):g.122526821G>C 64 64 NM_032873.4:c.64G>C p.Val22Leu p.Val22Leu 1 609201 -98 5' 77.7282 9.92994 0.956919 10.1857 77.7282 9.92994 0.956919 10.1857 0 rs150696870 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.002594 0.000439 0.000276 0.000107 0.000000 0.000570 0.004435 0.004344 0.003112 0.004435 639 9 9 1 0 16 485 101 18 246312 20516 32550 9372 17416 28072 109354 23248 5784 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000086 0.000000 3 0 0 0 0 0 2 1 0 631 9 9 1 0 16 479 99 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8548 4377 12925 36 3 39 0.00419385 0.000684932 0.00300833 0.00419385 0.000684932 0.00300833 25 transversion G C G>C 1.000 1.174 V Val GTC 0.240 L Leu CTC 0.197 22 16 7 Dolphin 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.07 IV.32 unknown 0.0 0.0 255 PASS . 0.0018 . . 0.01 . 0.001 0.0014 . 0.004 . ENSG00000154127:ENST00000284273:exon1:c.G64C:p.V22L UBASH3B:uc001pyi.4:exon1:c.G64C:p.V22L UBASH3B:NM_032873:exon1:c.G64C:p.V22L . . 0.5 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.336 . @ . . . . . 1 0.261 . . 62.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ctc|V22L|UBASH3B|mRNA|CODING|NM_032873|NM_032873.ex.1) 0.0007 0.003 0.0042 0.0007 0.003 0.0042 . -0.1858 -0.080 -0.186 c . . . . . 2.446e-03 . . . 0.0009 0.0029 0.0002 0 0.0074 0.0054 0.0029 0.0008 0.0007 0.0044 0.0002 0 0.0081 0.0081 0.0032 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.213 . . exonic exonic exonic . . 0.382 0.0010 . . . 0.22 0.49 182 ENSG00000154127 UBASH3B UBASH3B . . . 1.000 0.747 . 164 0.00252401 64976 159 0.00265062 59986 Uncertain_significance . 0 . 0.406 . . . . D 0.645 0.051 . . 37 . 0.084 . . 0.237 . . . 0.246 0.387 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.360 . . 0.372 . . . . . . 0 0.254 . . . . . 0.281 . 0.390 . HET 0.02 rs150696870 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 VII.36 5.39E-4 ENST00000284273 IV.35 III.43 . 0.360000 Q8TF42 . . . 0.003008 . 0.416 . . III.43 0.0003 0.0024 0.0003 0.0001 0 0.0043 0.0042 0.0027 0.0006 0.0006 0.0039 0.0012 0 0 0.0049 0.0061 0.0051 . . 0.477 . 0.799 0.799000 . . 0.360000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.418 . 0.337 0.799 0.809 0.01 . . rs150696870 rs150696870 1 1538 10 1/0 0,255,255 +rs199646713 11 124266726 G A - OR8B3 8472 Olfactory receptor, family 8, subfamily B, member 3 NM_001005467.1 -1 942 942 NP_001005467.1 Q8NGG8 substitution synonymous exon GRCh37 124266726 124266726 Chr11(GRCh37):g.124266726G>A 522 522 NM_001005467.1:c.522C>T p.Ile174= p.Ile174Ile 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs199646713 yes no Frequency 1 G 0.000000 0 0.001137 0.000869 0.001833 0.002135 0.000387 0.003989 0.000557 0.000444 0.001005 0.003989 292 20 57 19 7 106 66 11 6 256928 23020 31094 8900 18096 26572 118512 24764 5970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 292 20 57 19 7 106 66 11 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6358688 Prostate 0.000567 1764 transition C T C>T 0.992 1.013 I Ile ATC 0.481 I Ile ATT 0.356 174 194 PASS . . . . . . . . . . . ENSG00000196661:ENST00000354597:exon1:c.C522T:p.I174I OR8B3:uc010saj.2:exon1:c.C522T:p.I174I OR8B3:NM_001005467:exon1:c.C522T:p.I174I . . 0.1438849 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I174|OR8B3|mRNA|CODING|NM_001005467|NM_001005467.ex.1) . . . . . . . . . . . . . . . . 2.955e-03 . . . 0.0026 0.0027 0.0006 0 0 0.0012 0.0047 0.0098 0.0027 0.0023 0.0006 0 0 0.0009 0.0048 0.0098 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.18 0.19 182 ENSG00000196661 OR8B3 OR8B3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199646713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.58 0.0011 0.0013 0.0019 0.0022 0.0004 0.0005 0.0006 0.0012 0.0040 0.0005 0.0002 0 0 0 0 6.868e-05 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs55989857 rs55989857 rs55989857 rs199646713 1 1538 10 1/0 0,216,255 +rs112614178 11 124266758 G A - OR8B3 8472 Olfactory receptor, family 8, subfamily B, member 3 NM_001005467.1 -1 942 942 NP_001005467.1 Q8NGG8 substitution missense exon GRCh37 124266758 124266758 Chr11(GRCh37):g.124266758G>A 490 490 NM_001005467.1:c.490C>T p.Leu164Phe p.Leu164Phe 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs112614178 yes no Frequency 1 G 0.000000 0 0.001107 0.001115 0.000720 0.002951 0.000057 0.002967 0.000897 0.000794 0.000520 0.002967 272 24 22 26 1 77 100 19 3 245750 21528 30574 8812 17698 25950 111492 23932 5764 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 272 24 22 26 1 77 100 19 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.898 0.448 L Leu CTT 0.129 F Phe TTT 0.454 164 11 11 Elephant 1 0 0 0 0 4.IX 5.II 111 132 22 C15 0.00 21.82 Deleterious 0 IV.32 bad 3.075E-3 8.665E-5 203 PASS . . . . . . . . . . . ENSG00000196661:ENST00000354597:exon1:c.C490T:p.L164F OR8B3:uc010saj.2:exon1:c.C490T:p.L164F OR8B3:NM_001005467:exon1:c.C490T:p.L164F . . 0.16770187 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.649 . @ . . . . . 1 0.724 . . 161.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L164F|OR8B3|mRNA|CODING|NM_001005467|NM_001005467.ex.1) . . . . . . . -0.5845 -0.485 -0.585 c . . . . . 7.733e-03 . . . 0.0152 0.0086 0.0011 0.0010 0.0003 0.0055 0.0128 0.0216 0.0167 0.0071 0.0012 0.0012 0.0002 0.0038 0.0094 0.0218 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.000 . . exonic exonic exonic . . 0.386 @ . . . 0.25 0.19 182 ENSG00000196661 OR8B3 OR8B3 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . . . . . . 37 . 0.001 . . 0.021 . . . 0.096 0.304 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.649 . . 0 0 0 0 0 0 . 0.235 . . 0.319 . . . . . . 0 0.440 . . . . . 0.114 . 0.185 . HET 0.08 rs112614178 . . . . . . . . . . . . IV.79 0.004283 ENST00000354597 III.46 III.46 . 0.360000 Q8NGG8 . . . . . 0.174 . . III.46 0.0017 0.0012 0.0007 0.0030 6.18e-05 0.0009 0.0010 0.0006 0.0030 0.0001 0.0002 0 0 0 0.0003 0.0003 0 . . 0.133 . 2.225 2.225000 . . 0.360000 . . 1.0E-203 0.000 0.063 . 0.256 0.007 . 0.104 . 0.122 2.225 -0.672 . rs55687708 rs55687708 rs55687708 rs112614178 1 1538 10 1/0 0,212,255 +. 11 124750448 GGAGT G - ROBO3 13433 Roundabout, axon guidance receptor, homolog 3 (Drosophila) NM_022370.3 1 4554 4161 NP_071765.2 Q96MS0 deletion frameshift exon GRCh37 124750448 124750451 Chr11(GRCh37):g.124750448_124750451del 4093 4096 NM_022370.3:c.4093_4096del p.Arg1365Valfs*53 p.Arg1365Valfs*53 27 608630 -54 5' 81.8459 7.81339 0.905701 8.0846 81.8459 7.81339 0.905701 7.22003 0 CGGA 255 Pass . . . . . . . . . . . . . ROBO3:NM_022370:exon27:c.4094_4097del:p.R1365fs . . 0.7468355 . . . 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 79 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000154134 ROBO3 ROBO3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . 13.1363 . . 5.VII IV.15 . 0.000000 Q96MS0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,13 +rs200255001 11 124750455 G A - ROBO3 13433 Roundabout, axon guidance receptor, homolog 3 (Drosophila) NM_022370.3 1 4554 4161 NP_071765.2 Q96MS0 substitution missense exon GRCh37 124750455 124750455 Chr11(GRCh37):g.124750455G>A 4100 4100 NM_022370.3:c.4100G>A p.Arg1367Gln p.Arg1367Gln 27 608630 -50 5' 81.8459 7.81339 0.905701 8.0846 81.8459 7.81339 0.905701 7.73471 0 rs200255001 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 0.000000 0.000000 0.000000 0.000100 0.000000 0.000000 0.000100 7 0 0 0 0 0 7 0 0 179156 16148 25228 8554 12224 23250 70128 18748 4876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM307110|COSM307110|COSM307110|COSM307110 Thyroid|Pancreas|Large intestine|Central nervous system 0.001339|0.000576|0.000901|0.000424 747|1736|2220|2361 transition G A G>A 0.835 -0.602 R Arg CGG 0.207 Q Gln CAG 0.744 1367 10 7 Opossum 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 117.51 XII.36 Tolerated 0.22 IV.32 good 6.207E-1 0.1402 142 PASS . . . . . . 0.0002 . . . 0.001 . . ROBO3:NM_022370:exon27:c.G4100A:p.R1367Q . . 0.10294118 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.402 . @ . . . . . 1 0.538 . . 68.0 . . . . . . . . . . -0.8753 -0.864 -0.875 c . . . . . 1.053e-04 . . . 0 4.858e-05 0 0 0 0.0001 0 0 0 6.121e-05 0 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.636 . . exonic exonic exonic . . . 0.0002 . . . 0.1 0.26 182 ENSG00000154134 ROBO3 ROBO3 . . . 1.000 0.517 . 149 0.00229315 64976 146 0.0024339 59986 Uncertain_significance . 0 . 0.030 . . . . D 0.492 0.026 . . 37 . 0.439 . . 0.142 . . . 0.315 0.244 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.513 . . 0 0 0 0 0 0 . 0.112 . . 0.013 . . . . . . 2 0.395 . . . . . 0.075 . 0.101 . LowAF 0.36 rs200255001 . . . . . . . . . . . . 3.585 0.012034 . . . . 0.330000 Q96MS0 . . . . . 0.290 . . . 0 2.011e-05 0 0 0 0 5.411e-05 0 0 0 0.0001 0 0 0 0 0.0003 0 . . 0.609 . -0.000 -0.000000 . . 0.330000 . . 1.0E-142 0.678 0.282 . 0.376 0.962 . 0.075 . 0.277 -0.000 0.000 . . . rs200255001 rs200255001 1 1538 10 1/0 0,244,255 +rs374791792 11 124951275 C G - SLC37A2 20644 Solute carrier family 37 (glycerol-3-phosphate transporter), member 2 NM_198277.2 1 4196 1518 NP_938018.1 substitution intron GRCh37 124951275 124951275 Chr11(GRCh37):g.124951275C>G 695-42 695-42 NM_198277.2:c.695-42C>G p.? p.? 8 7 -42 3' 89.6117 6.51802 0.975972 7.39947 89.6117 6.51802 0.975972 7.79856 0 0.000373 0.000803 0.000279 0.000382 0.000186 0.000129 0.000228 0.001109 0.000562 0.001109 88 17 8 3 3 3 25 26 3 235772 21172 28642 7862 16160 23340 109806 23448 5342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 88 17 8 3 3 3 25 26 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.167 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . . . . . . . . . . 7.896e-06 . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.31 182 ENSG00000134955 SLC37A2 SLC37A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv527157 . . . . . . 0.0001 9.04e-05 0.0002 0.0001 0.0001 9.631e-05 4.109e-05 0 0.0001 0.0021 0.0027 0.0046 0.0078 0.0007 0.0089 0.0017 0.0038 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 11 128857882 AAG A - ARHGAP32 17399 Rho GTPase activating protein 32 NM_001142685.1 -1 10111 6264 NP_001136157.1 A7KAX9 deletion intron GRCh37 128857882 128857883 Chr11(GRCh37):g.128857882_128857883del 1256+35 1256+36 NM_001142685.1:c.1256+35_1256+36del p.? p.? 12 12 608541 35 5' 73.2986 6.53406 0.846322 0 73.2986 6.53406 0.846322 0 0 TA 255 Pass . . . . . . . . . . . . . . . . 0.9142857 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000134909 ARHGAP32 ARHGAP32 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,4 +rs144832184 11 133714321 C T - SPATA19 30614 Spermatogenesis associated 19 NM_001291992.1 -1 793 504 NP_001278921.1 Q7Z5L4 substitution intron GRCh37 133714321 133714321 Chr11(GRCh37):g.133714321C>T 267+83 267+83 NM_001291992.1:c.267+83G>A p.? p.? 3 3 609805 83 5' 76.2827 5.1791 0.723479 5.39144 76.2827 5.1791 0.723479 5.39144 0 rs144832184 yes no Frequency/1000G 2 C 0.000000 0 0.003195 0.000800 0.009200 0.000000 0.006000 0.000000 0.004916 0.000802 0.002387 0.009934 0.000000 0.000000 0.008218 0.003150 0.006122 0.009934 152 7 2 3 0 0 123 11 6 30922 8724 838 302 1618 0 14968 3492 980 0.026316 0.142857 0.000000 0.333333 0.000000 0.000000 0.008130 0.090909 0.000000 4 1 0 1 0 0 1 1 0 144 5 2 1 0 0 121 9 6 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 0.125 255 PASS 0.002 0.0023 . . 0.01 0.0008 0.0032 . . 0.006 0.0092 . . . . . 0.46666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.23 0.25 182 ENSG00000166118 SPATA19 SPATA19 . . . . . . 379 0.00583292 64976 363 0.00605141 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144832184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0049 0.0024 0.0099 0 0.0032 0.0082 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144832184 rs144832184 1 1538 10 1/0 0,255,255 +rs189065592 11 133715197 G A - SPATA19 30614 Spermatogenesis associated 19 NM_001291992.1 -1 793 504 NP_001278921.1 Q7Z5L4 substitution intron GRCh37 133715197 133715197 Chr11(GRCh37):g.133715197G>A 78+67 78+67 NM_001291992.1:c.78+67C>T p.? p.? 1 1 609805 67 5' 81.1791 9.86249 0.993498 3.61115 81.1791 9.86249 0.993498 3.47127 0 Cryptic Acceptor Strongly Activated 133715184 5.37303 0.451066 71.1619 5.65796 0.680504 74.2775 rs189065592 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000800 0.009200 0.000000 0.006000 0.000000 0.004943 0.000802 0.002392 0.009934 0.000000 0.000000 0.008269 0.003152 0.006110 0.009934 153 7 2 3 0 0 124 11 6 30950 8728 836 302 1616 0 14996 3490 982 0.026144 0.142857 0.000000 0.333333 0.000000 0.000000 0.008065 0.090909 0.000000 4 1 0 1 0 0 1 1 0 145 5 2 1 0 0 122 9 6 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition C T C>T 0.000 0.205 255 PASS 0.002 0.0023 . . 0.01 0.0008 0.0032 . . 0.006 0.0092 . . . . . 0.37037036 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.3 0.34 182 ENSG00000166118 SPATA19 SPATA19 . . . . . . 378 0.00581753 64976 362 0.00603474 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189065592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0049 0.0024 0.0099 0 0.0032 0.0083 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189065592 rs189065592 1 1538 10 1/0 0,255,255 +rs144648369 11 134104770 C T - VPS26B 28119 VPS26 retromer complex component B NM_052875.4 1 3731 1011 NP_443107.1 Q4G0F5 substitution intron GRCh37 134104770 134104770 Chr11(GRCh37):g.134104770C>T 224-21 224-21 NM_052875.4:c.224-21C>T p.? p.? 2 1 610027 -21 3' 83.8647 8.30509 0.942327 2.70585 83.8647 8.30509 0.888803 2.76273 -0.0189333 134104773 -13.8503 rs144648369 yes no Frequency/1000G 2 0.000000 0 0.009784 0.000800 0.040900 0.000000 0.005000 0.004300 0.008855 0.000458 0.003590 0.010336 0.000266 0.032215 0.008045 0.005236 0.010975 0.032215 2425 11 122 102 5 976 1005 134 70 273842 24004 33984 9868 18798 30296 124922 25592 6378 0.000234 0.000000 0.000000 0.000203 0.000000 0.001320 0.000176 0.000000 0.000000 32 0 0 1 0 20 11 0 0 2361 11 122 100 5 936 983 134 70 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8539 4397 12936 55 5 60 0.00639981 0.00113585 0.00461681 0.00639981 0.00113585 0.00461681 66 transition C T C>T 0.031 1.013 255 PASS . 0.0032 0.01 . 0.01 0.0008 0.0098 0.0043 . 0.005 0.041 . . . . . 0.50961536 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||VPS26B|mRNA|CODING|NM_052875|) 0.0011 0.0046 0.0064 0.0011 0.0046 0.0064 . . . . . . . . . . 9.645e-03 . . . 0.0007 0.0109 0.0043 0 0.0037 0.0082 0.0173 0.0373 0.0006 0.0104 0.0041 0 0.0051 0.0083 0.0178 0.0373 . . . . . . intronic intronic intronic . . . 0.0098 . . . 0.33 0.16 182 ENSG00000151502 VPS26B VPS26B . . . . . . 410 0.00631002 64976 361 0.00601807 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144648369 . . . . . . . . . . . . . . . . . . . . . . . 0.004617 . . . . . 0.0006 0.0093 0.0035 0.0102 0.0003 0.0051 0.0080 0.0122 0.0322 0.0002 0.0052 0.0072 0.0132 0 0.0063 0.0082 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144648369 rs144648369 1 1538 10 1/0 0,255,255 +rs138604285 11 134217300 C T - GLB1L2 25129 Galactosidase, beta 1-like 2 NM_138342.3 1 3155 1911 NP_612351.2 Q8IW92 substitution synonymous exon GRCh37 134217300 134217300 Chr11(GRCh37):g.134217300C>T 531 531 NM_138342.3:c.531C>T p.His177= p.His177His 5 -28 5' 71.7343 7.09191 0.939246 4.46109 71.7343 7.09191 0.939246 IV.08 0 Cryptic Acceptor Strongly Activated 134217312 2.61807 0.198509 77.8811 3.71821 0.25884 81.1957 Glycoside hydrolase, family 35 Glycoside hydrolase, family 42, N-terminal rs138604285 yes no Frequency/1000G 2 C 0.000000 0 0.007987 0.000000 0.034800 0.000000 0.004000 0.002900 0.006392 0.000582 0.002876 0.002365 0.000053 0.026606 0.004774 0.006902 0.004947 0.026606 1772 14 99 24 1 819 605 178 32 277236 24038 34420 10150 18870 30782 126718 25790 6468 0.000115 0.000000 0.000058 0.000000 0.000000 0.000780 0.000032 0.000000 0.000309 16 0 1 0 0 12 2 0 1 1740 14 97 24 1 795 601 178 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8558 4401 12959 36 1 37 0.00418897 0.000227169 0.00284703 0.00418897 0.000227169 0.00284703 209 transition C T C>T 0.244 -0.924 H His CAC 0.587 H His CAT 0.413 177 255 PASS . 0.0014 0.0028 . 0.0026 . 0.008 0.0029 . 0.004 0.035 . GLB1L2:uc001qhp.3:exon5:c.C531T:p.H177H GLB1L2:NM_138342:exon5:c.C531T:p.H177H . . 0.4375 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H177|GLB1L2|mRNA|CODING|NM_138342|NM_138342.ex.5) 0.0002 0.0028 0.0042 0.0002 0.0028 0.0042 . -0.1252 . . . . . . . . 6.866e-03 . . . 0.0007 0.0074 0.0016 0.0002 0.0089 0.0039 0.0028 0.0270 0.0007 0.0073 0.0017 0 0.0077 0.0046 0.0043 0.0271 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0080 . . . 0.21 0.35 182 ENSG00000149328 GLB1L2 GLB1L2 . . . . . . 290 0.00446319 64976 250 0.00416764 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138604285 . 0.007 . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 3.1143 2.68E-4 ENST00000525089 V.93 -2.41 . . . . . . 0.002847 . . . . . 0.0005 0.0067 0.0028 0.0024 5.798e-05 0.0067 0.0048 0.0040 0.0266 0.0008 0.0040 0.0048 0 0 0.0083 0.0049 0.0102 . . . . 0.087 0.087000 . . . . . 1.0E-255 . . . . . . . . . 0.087 . 0.0042 . . rs138604285 rs138604285 1 1538 10 1/0 0,255,255 +. (chr12:87224 C/A) 12 87224 C A Not on a known gene +rs781784246 (chr12:87591 A/G) 12 87591 A G Not on a known gene +rs879955483 (chr12:88250 T/C) 12 88250 T C Not on a known gene +rs879966530 (chr12:88260 G/C) 12 88260 G C Not on a known gene +. (chr12:92311 C/A) 12 92311 C A No Alamut gene - other known genes: DDX11L11 DDX11L11 +rs4018425 12 148465 T C - FAM138D 33583 Family with sequence similarity 138, member D NR_026823.1 -1 1128 0 substitution exon GRCh37 148465 148465 Chr12(GRCh37):g.148465T>C 609 609 NR_026823.1:n.609A>G 3 45 3' 91.5957 8.80881 0.992702 3.53744 91.5957 8.80881 0.992702 3.85807 0 Cryptic Donor Strongly Activated 148465 0.007333 60.0203 5.39742 0.282452 72.1564 rs4018425 no no 0 0.000000 0 0.000977 0.002321 0.000000 0.000000 0.000000 0.000000 0.000802 0.000000 0.000000 0.002321 25 15 0 0 0 0 10 0 0 25578 6464 766 260 1448 0 12474 3340 826 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 15 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 RF 55 Genomes transition A G A>G 0.000 -1.167 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . 0.44 0.4 182 ENSG00000206114 FAM138D . . . dist\x3d57202\x3bdist\x3d27584 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs4018425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0010 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs4018425 rs4018425 rs4018425 rs4018425 1 1538 10 1/0 0,249,255 +. 12 148477 G A - FAM138D 33583 Family with sequence similarity 138, member D NR_026823.1 -1 1128 0 substitution exon GRCh37 148477 148477 Chr12(GRCh37):g.148477G>A 597 597 NR_026823.1:n.597C>T 3 33 3' 91.5957 8.80881 0.992702 3.53744 91.5957 8.80881 0.992702 3.22655 0 0.000748 0.001563 0.002639 0.000000 0.000000 0.000000 0.000565 0.000000 0.000000 0.002639 19 10 2 0 0 0 7 0 0 25388 6400 758 272 1440 0 12380 3310 828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 10 2 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition C T C>T 0.000 -0.037 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 66.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000206114 FAM138D . . . dist\x3d57214\x3bdist\x3d27572 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0007 0.0026 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs2650190 12 176120 C G - IQSEC3 29193 IQ motif and Sec7 domain 3 NM_001170738.1 1 6976 3549 NP_001164209.1 Q9UPP2 substitution missense exon GRCh37 176120 176120 Chr12(GRCh37):g.176120C>G 72 72 NM_001170738.1:c.72C>G p.Asn24Lys p.Asn24Lys 1 612118 -483 5' 64.6342 III.37 0.093629 6.52926 64.6342 III.37 0.093629 6.52926 0 rs2650190 yes no Frequency/1000G 2 C 0.000000 0 0.001834 0.001375 0.001117 0.001047 0.000662 0.001610 0.001997 0.005878 0.001785 0.005878 256 16 25 8 7 33 108 52 7 139572 11634 22382 7642 10580 20494 54072 8846 3922 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 256 16 25 8 7 33 108 52 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 1.000 3.111 N Asn AAC 0.536 K Lys AAG 0.575 24 14 6 Frog 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C0 353.86 0.00 Tolerated 0.32 II.89 unknown 0.0 0.0 191 PASS 0.07 0.05 0.05 0.03 0.04 . . . . . . . IQSEC3:uc001qhw.2:exon1:c.C72G:p.N24K IQSEC3:NM_001170738:exon1:c.C72G:p.N24K . . 0.13636364 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.740 . @ . . . . . 1 0.728 . . 154.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N24K|IQSEC3|mRNA|CODING|NM_001170738|NM_001170738.ex.1) . . . . . . . 0.1043 0.092 0.104 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.315 @ . . . 0.39 0.5 182 ENSG00000120645 IQSEC3 IQSEC3 . . . 0.998 0.367 . . . . . . . Uncertain_significance . 0 . 0.012 . . . . D 0.934 0.400 . . 37 . 0.066 . . 0.026 . . . 0.482 0.437 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.512 . . . . . 0.414 . 0.191 . LowAF 0.01 . . . . . . . . 0.04624542124542125 0.06707317073170732 0.052486187845303865 0.03146853146853147 0.040897097625329816 10.0887 . . III.68 II.77 . 0.010000 . . . . . . 0.138 . . II.77 0.0014 0.0013 0.0010 0.0011 0.0007 0.0002 0.0016 0.0016 0.0016 0.0014 0.0043 0.0058 0 0.0007 0.0217 0.0035 0.0026 . . 0.080 . 0.732 0.732000 . . 0.010000 . . 1.0E-191 1.000 0.715 . 0.888 1.000 . 0.301 . 0.309 0.732 0.853 0.07 rs2650190 rs2650190 rs2650190 rs2650190 1 1538 10 1/0 0,210,255 +rs762802210 12 330742 T G - SLC6A13 11046 Solute carrier family 6 (neurotransmitter transporter), member 13 NM_016615.4 -1 2226 1809 NP_057699.2 Q9NSD5 substitution intron GRCh37 330742 330742 Chr12(GRCh37):g.330742T>G 1516-30 1516-30 NM_016615.4:c.1516-30A>C p.? p.? 14 13 615097 -30 3' 83.5183 XI.57 0.986345 13.8876 83.5183 XI.57 0.986345 14.1337 0 330742 -61.238 rs762802210 yes no Frequency 1 T 0.000000 0 0.000975 0.000490 0.002723 0.001653 0.001182 0.001117 0.000776 0.000619 0.001166 0.002723 161 9 39 5 14 14 65 11 4 165086 18386 14320 3024 11848 12532 83760 17784 3432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 161 9 39 5 14 14 65 11 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.205 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . 0.3390 . . . . . . . . 5.634e-04 . . . 0.0002 0.0003 0.0006 0 0 0.0002 0 0.0002 0.0001 0.0004 0.0006 0 0.0014 0.0005 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000010379 SLC6A13 SLC6A13 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs762802210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.17 0.0006 0.0011 0.0027 0.0018 0.0014 0.0007 0.0009 0.0015 0.0011 0.0003 0.0003 0.0031 0 0 0.0004 0.0002 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs147679992 12 344274 C T - SLC6A13 11046 Solute carrier family 6 (neurotransmitter transporter), member 13 NM_016615.4 -1 2226 1809 NP_057699.2 Q9NSD5 substitution synonymous exon GRCh37 344274 344274 Chr12(GRCh37):g.344274C>T 813 813 NM_016615.4:c.813G>A p.Thr271= p.Thr271Thr 7 615097 -19 5' 94.6711 X.63 0.998483 6.55743 94.6711 X.63 0.998483 6.43299 0 Cryptic Donor Strongly Activated 344273 0.003695 57.672 1.43942 0.014897 66.6328 Sodium rs147679992 yes no Frequency/1000G 2 C 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246234 15304 33580 9848 17248 30782 111688 22300 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes COSM3460317 Skin 0.000812 1232 transition G A G>A 0.008 -3.507 T Thr ACG 0.116 T Thr ACA 0.280 271 255 PASS . . . . . . . . . . . . . . . . 0.3875 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . -0.2147 . . . . . . . . 7.892e-06 . . . 0 1.102e-05 0 0 0 2.374e-05 0 0 0 9.416e-06 0 0 0 1.84e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.16 0.18 182 ENSG00000010379 SLC6A13 SLC6A13 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147679992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.061e-06 0 0 0 0 8.954e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 2062323 T TAGC - DCP1B 24451 Decapping mRNA 1B NM_152640.4 -1 2116 1854 NP_689853.3 Q8IZD4 insertion in-frame exon GRCh37 2062323 2062324 Chr12(GRCh37):g.2062323_2062324insAGC 782 783 NM_152640.4:c.782_783insGCT p.Gln261_Glu262insLeu p.Gln261_Glu262insLeu 7 609843 131 3' 94.8022 8.03778 0.990357 7.84688 94.8022 8.03778 0.990357 7.84688 0 GCT 255 Pass . . . . . . . . . . . . . DCP1B:NM_152640:exon7:c.782_783insGCT:p.Q261delinsQL . . 0.6847826 . . . 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 92 . . STOP_GAINED(HIGH||caa/cGCTaa|Q261R*|DCP1B|mRNA|CODING|NM_152640|NM_152640.ex.7) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000151065 DCP1B DCP1B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,16 +rs41276732 12 6061593 G A - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6061593 6061593 Chr12(GRCh37):g.6061593G>A 8079 8079 NM_000552.4:c.8079C>T p.Cys2693= p.Cys2693Cys 49 613160 -37 5' 71.4862 6.05228 0.557535 3.01513 71.4862 6.05228 0.557535 2.62368 0 von Willebrand factor rs41276732 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001270 0.000583 0.000000 0.000000 0.000000 0.000000 0.002565 0.000271 0.000928 0.002565 352 14 0 0 0 0 325 7 6 277182 24030 34418 10146 18870 30780 126686 25786 6466 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 350 14 0 0 0 0 323 7 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4404 12980 24 2 26 0.0027907 0.000453926 0.00199908 0.0027907 0.000453926 0.00199908 142 transition C T C>T 1.000 0.609 C Cys TGC 0.552 C Cys TGT 0.448 2693 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . ENSG00000110799:ENST00000261405:exon49:c.C8079T:p.C2693C VWF:uc001qnn.1:exon49:c.C8079T:p.C2693C VWF:NM_000552:exon49:c.C8079T:p.C2693C . . 0.5084746 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 59.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C2693|VWF|mRNA|CODING|NM_000552|NM_000552.ex.49) 0.0005 0.002 0.0028 0.0005 0.002 0.0028 . 0.9618 . . . . . . . . 1.555e-03 . . . 0.0004 0.0011 0 0 0.0003 0.0023 0.0014 0 0.0003 0.0014 0 0 0.0002 0.0027 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.26 0.34 182 ENSG00000110799 VWF VWF . . . . . . 92 0.00141591 64976 91 0.00151702 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41276732 . . . . . . . . . . . . . . . . . . . . . . . 0.001999 . . . . . 0.0003 0.0013 0 0 0 0.0002 0.0027 0.0011 0 0.0010 0.0013 0 0 0 0.0009 0.0018 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 rs41276732 rs41276732 rs41276732 rs41276732 1 1538 10 1/0 0,255,255 +rs79275181 12 6127535 T G - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6127535 6127535 Chr12(GRCh37):g.6127535T>G 5049 5049 NM_000552.4:c.5049A>C p.Ala1683= p.Ala1683Ala 28 613160 -5 5' 75.5367 6.72735 0.397206 7.53521 75.5367 6.72735 0.308454 7.29171 -0.0744802 von Willebrand factor rs79275181 yes no Frequency 1 T uncertain_significance 0.000000 0 RCV000307103.1|RCV000291213.1 germline|germline clinical testing|clinical testing VUS|VUS 1|1 not specified|von Willebrand disorder COSM293279|COSM293279|COSM293279|COSM293279|COSM293279|COSM293279 Urinary tract|Thyroid|Liver|Large intestine|Central nervous system|Breast 0.007440|0.001339|0.000422|0.000826|0.000832|0.000803 672|747|2371|2421|2405|2490 transversion A C A>C 0.000 0.205 A Ala GCA 0.226 A Ala GCC 0.403 1683 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon28:c.A5049C:p.A1683A VWF:uc001qnn.1:exon28:c.A5049C:p.A1683A VWF:NM_000552:exon28:c.A5049C:p.A1683A . . 0.34 . . germline 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . Uncertain//\@significance//\%//\@Uncertain//\@significance Uncertain_significance|Uncertain_significance RCV000291213.1|RCV000307103.1 von_Willebrand_disorder|not_specified MedGen:Orphanet:SNOMED_CT|MedGen C0042974:ORPHA903:128105004|CN169374 2 . . . 50.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcA/gcC|A1683|VWF|mRNA|CODING|NM_000552|NM_000552.ex.28) . . . . . . . 0.0732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.23 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200368994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79275181 rs200368994 1 1538 10 1/0 0,255,255 +rs201825372 12 6127640 A G - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6127640 6127640 Chr12(GRCh37):g.6127640A>G 4944 4944 NM_000552.4:c.4944T>C p.Pro1648= p.Pro1648Pro 28 613160 -110 5' 75.5367 6.72735 0.397206 7.53521 75.5367 6.72735 0.397206 7.53521 0 von Willebrand factor, type A von Willebrand factor rs201825372 yes no Frequency 1 G uncertain_significance 0.000000 0 RCV000397804.1 germline clinical testing VUS 1 not specified COSM1177929|COSM1177929|COSM1177929|COSM1177929|COSM1177929 Urinary tract|Liver|Endometrium|Central nervous system|Breast 0.001488|0.000422|0.001524|0.000416|0.000803 672|2371|656|2405|2490 transition T C T>C 1.000 0.690 P Pro CCT 0.283 P Pro CCC 0.328 1648 182 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon28:c.T4944C:p.P1648P VWF:uc001qnn.1:exon28:c.T4944C:p.P1648P VWF:NM_000552:exon28:c.T4944C:p.P1648P . . 0.11764706 . . germline 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000397804.1 not_specified MedGen CN169374 2 . . . 85.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P1648|VWF|mRNA|CODING|NM_000552|NM_000552.ex.28) . . . . . . . I.65 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.27 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201825372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs201825372 rs201825372 1 1538 10 1/0 0,235,255 +. 12 6131973 A G - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6131973 6131973 Chr12(GRCh37):g.6131973A>G 3471 3471 NM_000552.4:c.3471T>C p.Cys1157= p.Cys1157Cys 26 613160 -68 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 13.9315 0 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor transition T C T>C 1.000 1.900 C Cys TGT 0.448 C Cys TGC 0.552 1157 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.T3471C:p.C1157C VWF:uc001qnn.1:exon26:c.T3471C:p.C1157C VWF:NM_000552:exon26:c.T3471C:p.C1157C . . 0.44827586 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C1157|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . 1.0338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.56 0.46 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs5748550 rs5748550 rs5748550 rs5748550 1 1538 10 1/0 0,247,255 +. 12 6131979 G A - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6131979 6131979 Chr12(GRCh37):g.6131979G>A 3465 3465 NM_000552.4:c.3465C>T p.Val1155= p.Val1155Val 26 613160 -74 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 13.4971 0 Cryptic Acceptor Strongly Activated 6131980 2.33216 0.00048 65.8963 3.31251 0.002366 65.8963 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor transition C T C>T 1.000 2.627 V Val GTC 0.240 V Val GTT 0.178 1155 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.C3465T:p.V1155V VWF:uc001qnn.1:exon26:c.C3465T:p.V1155V VWF:NM_000552:exon26:c.C3465T:p.V1155V . . 0.42857143 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V1155|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . 1.1354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.45 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs5748551 rs5748551 rs5748551 rs5748551 1 1538 10 1/0 0,244,255 +. 12 6132006 A C - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution stop gain exon GRCh37 6132006 6132006 Chr12(GRCh37):g.6132006A>C 3438 3438 NM_000552.4:c.3438T>G p.Tyr1146* p.Tyr1146* 26 613160 59 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.46809 0 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor transversion T G T>G 0.882 -0.521 Y Tyr TAT 0.438 * * TAG 0.234 1146 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.T3438G:p.Y1146X VWF:uc001qnn.1:exon26:c.T3438G:p.Y1146X VWF:NM_000552:exon26:c.T3438G:p.Y1146X . . 0.44604316 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.958 . @ . . . . . 0 0.472 . . 139.0 . . STOP_GAINED(HIGH|NONSENSE|taT/taG|Y1146*|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . -0.1324 -0.428 -0.132 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.028 @ . . . . . . ENSG00000110799 VWF VWF . . . 0.894 0.259 . . . . . . . Likely_pathogenic . 0 . 0.401 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 1 . . . . . . . . . . . 0 . . . . . . 0.881 . . . HET 0.01 . . . . . . . . . . . . . 17.6865 . ENST00000261405 IV.92 -4.93 . 1.000000 . . . . . . 0.410 . . . . . . . . . . . . . . . . . . . . . . 0.924 . -0.907 -0.907000 . . 1.000000 . . 1.0E-255 0.654 0.280 . 0.444 1.000 . 0.108 . 0.047 -0.907 1.062 . . rs71312074 . . 1 1538 10 1/0 0,240,255 +. 12 6132009 G T - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution synonymous exon GRCh37 6132009 6132009 Chr12(GRCh37):g.6132009G>T 3435 3435 NM_000552.4:c.3435C>A p.Arg1145= p.Arg1145Arg 26 613160 56 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.0953 0 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor transversion C A C>A 0.984 -0.117 R Arg CGC 0.190 R Arg CGA 0.110 1145 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.C3435A:p.R1145R VWF:uc001qnn.1:exon26:c.C3435A:p.R1145R VWF:NM_000552:exon26:c.C3435A:p.R1145R . . 0.42068964 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 145.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R1145|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . 0.9647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000110799 VWF VWF . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 12 6132010 C T - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution missense exon GRCh37 6132010 6132010 Chr12(GRCh37):g.6132010C>T 3434 3434 NM_000552.4:c.3434G>A p.Arg1145His p.Arg1145His 26 613160 55 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 8.78783 0 Trypsin Inhibitor-like, cysteine rich domain von Willebrand factor 0.000020 0.000000 0.000095 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 1 0 1 0 0 0 0 0 0 50038 4950 10528 1256 7480 6090 17530 730 1474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 88 Exomes transition G A G>A 1.000 5.209 R Arg CGC 0.190 H His CAC 0.587 1145 12 12 Zebrafish 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C25 0.00 28.82 Deleterious 0 III.34 255 PASS . . . . . . . . . . . ENSG00000110799:ENST00000261405:exon26:c.G3434A:p.R1145H VWF:uc001qnn.1:exon26:c.G3434A:p.R1145H VWF:NM_000552:exon26:c.G3434A:p.R1145H . . 0.44055945 . . @ 63 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.769 . @ . . . . . 1 0.996 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1145H|VWF|mRNA|CODING|NM_000552|NM_000552.ex.26) . . . . . . . 0.3699 0.407 0.370 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.904 . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000110799 VWF VWF . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.447 . . . . D 0.956 0.529 . . 37 . 0.885 . . 0.867 . . . 0.035 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.214 . . . . . 0.875 . 0.707 . HET 0.4 . . . . . . . . . . . . . 17.471 . ENST00000261405 IV.92 IV.92 . 0.470000 P04275 . . . . . 0.965 . . IV.92 0 1.998e-05 9.498e-05 0 0 0 0 0 0 . . . . . . . . . . 0.924 . 2.440 2.440000 . . 0.470000 . . 1.0E-255 1.000 0.715 . 0.463 0.998 . 0.812 . 0.441 2.440 0.871 . . . . . 1 1538 10 1/0 0,239,255 +. 12 6132098 C A - VWF 12726 Von Willebrand factor NM_000552.4 -1 8838 8442 NP_000543.2 P04275 substitution intron GRCh37 6132098 6132098 Chr12(GRCh37):g.6132098C>A 3380-34 3380-34 NM_000552.4:c.3380-34G>T p.? p.? 26 25 613160 -34 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.29485 0 Cryptic Acceptor Strongly Activated 6132085 6.98537 0.032305 77.0626 7.24933 0.183457 82.6592 transversion G T G>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.37634408 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||VWF|mRNA|CODING|NM_000552|) . . . . . . . -0.1570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.35 182 ENSG00000110799 VWF VWF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs56196603 rs56196603 rs56196603 rs56196603 1 1538 10 1/0 0,255,255 +rs141891222 12 6601619 G A - MRPL51 14044 Mitochondrial ribosomal protein L51 NM_016497.3 -1 677 387 NP_057581.2 Q4U2R6 substitution missense exon GRCh37 6601619 6601619 Chr12(GRCh37):g.6601619G>A 205 205 NM_016497.3:c.205C>T p.His69Tyr p.His69Tyr 3 611855 15 3' 79.383 8.21377 0.273331 4.57112 79.383 8.21377 0.37717 4.25908 0.126634 Ribosomal protein L51, mitochondrial rs141891222 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.009900 0.001400 0.006559 0.001471 0.001795 0.004130 0.000055 0.000000 0.008916 0.018892 0.005401 0.018892 1723 35 55 38 1 0 1082 479 33 262674 23800 30636 9202 18152 28066 121354 25354 6110 0.000107 0.000000 0.000000 0.000000 0.000000 0.000000 0.000148 0.000394 0.000000 14 0 0 0 0 0 9 5 0 1695 35 55 38 1 0 1064 469 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8527 4399 12926 73 7 80 0.00848837 0.00158874 0.00615101 0.00848837 0.00158874 0.00615101 186 transition C T C>T 1.000 6.097 H His CAC 0.587 Y Tyr TAC 0.562 69 11 11 C. elegans 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C65 0.00 83.33 Deleterious 0 3.XI bad 3.892E-4 9.497E-5 255 PASS . 0.0041 . . 0.01 . 0.0022 0.0014 . 0.0099 . ENSG00000111639:ENST00000229238:exon3:c.C205T:p.H69Y MRPL51:uc001qom.2:exon3:c.C205T:p.H69Y MRPL51:NM_016497:exon3:c.C205T:p.H69Y . . 0.4528302 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.905 . @ . . . . . 1 0.904 . . 53.0 . . . 0.0016 0.0062 0.0085 0.0016 0.0062 0.0085 . 0.9754 0.929 0.975 c . . . . . . . . . 0.0016 0.0044 0.0009 0 0.0160 0.0071 0.0058 0 0.0019 0.0056 0.0009 0 0.0175 0.0080 0.0060 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.872 0.0022 . . . 0.25 0.36 182 ENSG00000111639 MRPL51 MRPL51 . . . 1.0 0.983 . 441 0.00678712 64976 430 0.00716834 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.687 . . 0.777 . . . 0.806 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.856 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.784 . . . . . 0.943 . 0.766 . HET 0 rs141891222 . 0.007 . . . . . 0.004120879120879121 0.0 0.0 0.0 0.011873350923482849 19.3309 0.001338 ENST00000229238 V.66 V.66 . 0.000000 Q4U2R6 . . . 0.006151 . 0.690 . . V.66 0.0014 0.0063 0.0018 0.0042 0 0.0196 0.0084 0.0043 0 0.0016 0.0085 0.0024 0.0033 0.0006 0.0146 0.0123 0.0112 . . 0.401 . 2.672 2.672000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.587 0.979 . 0.979 . 0.652 2.672 0.917 0.01 . . rs141891222 rs141891222 1 1538 10 1/0 0,255,255 +rs141891222 12 6601619 G A - NCAPD2 24305 Non-SMC condensin I complex, subunit D2 NM_014865.3 1 4806 4206 NP_055680.3 Q15021 substitution upstream GRCh37 6601619 6601619 Chr12(GRCh37):g.6601619G>A -1725 -1725 NM_014865.3:c.-1725G>A p.? p.? 1 615638 -1702 5' 94.6711 X.63 0.995015 6.23733 94.6711 X.63 0.995015 6.23733 0 Cryptic Donor Strongly Activated 6601616 0.007829 60.4442 3.69186 0.28493 64.8065 rs141891222 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.009900 0.001400 0.006559 0.001471 0.001795 0.004130 0.000055 0.000000 0.008916 0.018892 0.005401 0.018892 1723 35 55 38 1 0 1082 479 33 262674 23800 30636 9202 18152 28066 121354 25354 6110 0.000107 0.000000 0.000000 0.000000 0.000000 0.000000 0.000148 0.000394 0.000000 14 0 0 0 0 0 9 5 0 1695 35 55 38 1 0 1064 469 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8527 4399 12926 73 7 80 0.00848837 0.00158874 0.00615101 0.00848837 0.00158874 0.00615101 186 transition G A G>A 1.000 6.097 255 PASS . 0.0041 . . 0.01 . 0.0022 0.0014 . 0.0099 . ENSG00000111639:ENST00000229238:exon3:c.C205T:p.H69Y MRPL51:uc001qom.2:exon3:c.C205T:p.H69Y MRPL51:NM_016497:exon3:c.C205T:p.H69Y . . 0.4528302 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.905 . @ . . . . . 1 0.904 . . 53.0 . . . 0.0016 0.0062 0.0085 0.0016 0.0062 0.0085 . 0.9754 0.929 0.975 c . . . . . . . . . 0.0016 0.0044 0.0009 0 0.0160 0.0071 0.0058 0 0.0019 0.0056 0.0009 0 0.0175 0.0080 0.0060 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.872 0.0022 . . . 0.25 0.36 182 ENSG00000111639 MRPL51 MRPL51 . . . 1.0 0.983 . 441 0.00678712 64976 430 0.00716834 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.687 . . 0.777 . . . 0.806 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.856 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.784 . . . . . 0.943 . 0.766 . HET 0 rs141891222 . 0.007 . . . . . 0.004120879120879121 0.0 0.0 0.0 0.011873350923482849 19.3309 0.001338 ENST00000229238 V.66 V.66 . 0.000000 Q4U2R6 . . . 0.006151 . 0.690 . . V.66 0.0014 0.0063 0.0018 0.0042 0 0.0196 0.0084 0.0043 0 0.0016 0.0085 0.0024 0.0033 0.0006 0.0146 0.0123 0.0112 . . 0.401 . 2.672 2.672000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.587 0.979 . 0.979 . 0.652 2.672 0.917 0.01 . . rs141891222 rs141891222 1 1538 10 1/0 0,255,255 +rs75202400 12 6624111 G A - NCAPD2 24305 Non-SMC condensin I complex, subunit D2 NM_014865.3 1 4806 4206 NP_055680.3 Q15021 substitution intron GRCh37 6624111 6624111 Chr12(GRCh37):g.6624111G>A 987+25 987+25 NM_014865.3:c.987+25G>A p.? p.? 9 9 615638 25 5' 74.7286 VI.16 0.649406 3.38835 74.7286 VI.16 0.649406 3.36828 0 rs75202400 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.002779 0.000000 0.000380 0.003877 0.000053 0.000000 0.003374 0.010535 0.002947 0.010535 767 0 13 39 1 0 425 270 19 275956 24026 34220 10060 18856 30758 125960 25628 6448 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000156 0.000000 6 0 0 0 0 0 4 2 0 755 0 13 39 1 0 417 266 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 73 transition G A G>A 0.000 -0.037 255 PASS . 0.0014 . . 0.004 . 0.0008 0.0014 . 0.003 . . . . . . 0.4923077 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . 0.0008 0.0012 . 0.0008 0.0012 . 0.0852 . . . . . . . . 2.550e-03 . . . 0 0.0016 0.0003 0 0.0092 0.0024 0.0042 0 0 0.0024 0.0004 0 0.0097 0.0035 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.44 0.14 182 ENSG00000010292 NCAPD2 NCAPD2 . . . . . . 115 0.00176988 64976 111 0.00185043 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs75202400 . . . . . . . . . . . . . . . . . . . . . . . 0.000769 . . . . . 0 0.0024 0.0004 0.0039 0 0.0105 0.0027 0.0022 0 0 0.0054 0.0012 0.0033 0.0006 0.0106 0.0080 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs75202400 rs75202400 1 1538 10 1/0 0,255,255 +rs142276680 12 6882538 C T - LAG3 6476 Lymphocyte-activation gene 3 NM_002286.5 1 1992 1578 NP_002277.4 P18627 substitution intron GRCh37 6882538 6882538 Chr12(GRCh37):g.6882538C>T 206+33 206+33 NM_002286.5:c.206+33C>T p.? p.? 2 2 153337 33 5' 84.0478 9.36876 0.991838 8.12251 84.0478 9.36876 0.991838 VII.07 0 Cryptic Acceptor Weakly Activated 6882547 0.465306 0.00062 70.7093 0.0145788 0.001768 73.4212 rs142276680 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.000000 0.004100 0.000000 0.004000 0.004300 0.006490 0.001422 0.002725 0.006482 0.000053 0.002017 0.009961 0.009398 0.008153 0.009961 1759 34 93 65 1 62 1227 225 52 271040 23902 34130 10028 18746 30732 123184 23940 6378 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000049 0.000167 0.000000 5 0 0 0 0 0 3 2 0 1749 34 93 65 1 62 1221 221 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8521 4402 12923 73 4 77 0.0084943 0.000907853 0.00592308 0.0084943 0.000907853 0.00592308 34 transition C T C>T 0.000 0.044 255 PASS . 0.0018 0.0028 . 0.004 . 0.0022 0.0043 . 0.004 0.0041 . . . . . 0.65217394 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . 0.0009 0.0059 0.0085 0.0009 0.0059 0.0085 . 0.6155 . . . . . . . . 6.276e-03 . . . 0.0015 0.0057 0.0023 0 0.0068 0.0096 0.0086 0.0022 0.0017 0.0061 0.0023 0 0.0079 0.0094 0.0058 0.0023 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.5 0.49 182 ENSG00000089692 LAG3 LAG3 . . . . . . 435 0.00669478 64976 424 0.00706832 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs142276680 . . . . . . . . . . . . . . . . . . . . . . . 0.005923 . . . . . 0.0014 0.0062 0.0027 0.0066 0 0.0093 0.0095 0.0078 0.0020 0.0015 0.0086 0.0036 0.0033 0.0006 0.0100 0.0135 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0085 . . rs142276680 rs142276680 1 1538 10 1/0 0,255,255 +. 12 6973157 A T - USP5 12628 Ubiquitin specific peptidase 5 (isopeptidase T) NM_001098536.1 1 3191 2577 NP_001092006.1 P45974 substitution intron GRCh37 6973157 6973157 Chr12(GRCh37):g.6973157A>T 2098+20 2098+20 NM_001098536.1:c.2098+20A>T p.? p.? 16 16 601447 20 5' 84.1408 9.87848 0.947517 X.92 84.1408 9.87848 0.947517 X.92 0 transversion A T A>T 0.000 -0.037 212 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.0935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000111667 USP5 USP5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 12 7045908 GCAG G - ATN1 3033 Atrophin 1 NM_001007026.1 1 4351 3573 NP_001007027.1 delins in-frame exon GRCh37 7045908 7045911 Chr12(GRCh37):g.7045908_7045911delinsG 1478 1481 NM_001007026.1:c.1478_1481delinsG p.Gln493_Gln494delinsArg p.Gln493_Gln494delinsArg 5 607462 -814 5' 89.8591 9.60237 0.983781 11.1122 89.8591 9.60237 0.983781 11.1122 0 Atrophin-like G AGCA 255 Pass . . . . . . . . . . . . . . . . 0.2375 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 80 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000111676 ATN1 ATN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . III.62 . . 3.VII 0.246 . 0.370000 P54259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,62 +rs144280633 12 7045912 G A - ATN1 3033 Atrophin 1 NM_001007026.1 1 4351 3573 NP_001007027.1 substitution synonymous exon GRCh37 7045912 7045912 Chr12(GRCh37):g.7045912G>A 1482 1482 NM_001007026.1:c.1482G>A p.Gln494= p.Gln494Gln 5 607462 -813 5' 89.8591 9.60237 0.983781 11.1122 89.8591 9.60237 0.983781 11.1122 0 Atrophin-like rs144280633 yes no Frequency 1 G 0.000000 0 0.000050 0.000149 0.000287 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000287 11 2 9 0 0 0 0 0 0 221594 13392 31372 8452 16280 27444 98994 20790 4870 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 9 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 163 Exomes COSM3749229|COSM3749229|COSM3749229 Thyroid|Large intestine|Haematopoietic and lymphoid tissue 0.004016|0.000887|0.000283 747|2255|3530 transition G A G>A 0.528 -0.198 Q Gln CAG 0.744 Q Gln CAA 0.256 494 193 PASS . . . . . . . . . . . . . . . . 0.1125 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . I.50 . . . . . . . . 3.954e-03 . . . 0 4.518e-05 0.0003 0 0 0 0 0 0 3.772e-05 0.0003 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.4 182 ENSG00000111676 ATN1 ATN1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.964e-05 0.0003 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs144280633 rs144280633 1 1538 10 1/0 0,255,255 +rs61753202 12 7069836 T C - PTPN6 9658 Protein tyrosine phosphatase, non-receptor type 6 NM_080549.3 1 2389 1875 NP_536859.1 substitution missense exon GRCh37 7069836 7069836 Chr12(GRCh37):g.7069836T>C 1684 1684 NM_080549.3:c.1684T>C p.Ser562Pro p.Ser562Pro 15 176883 11 3' 82.5067 7.07253 0.804811 5.88867 82.5067 7.07253 0.854101 6.12008 0.0204147 Protein-tyrosine phosphatase, non-receptor type-6, -11 rs61753202 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.005000 0.000000 0.002519 0.000489 0.000323 0.011866 0.000000 0.000000 0.004421 0.000608 0.001863 0.011866 455 8 8 101 0 0 317 12 9 180624 16346 24792 8512 11866 22828 71696 19752 4832 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 455 8 8 101 0 0 317 12 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3165 1383 4548 17 1 18 0.00534255 0.000722543 0.00394218 0.00534255 0.000722543 0.00394218 78 transition T C T>C 0.000 -0.117 S Ser TCT 0.185 P Pro CCT 0.283 562 11 6 Cow -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Deleterious 0.05 IV.32 good 3.301E-2 0.1725 255 PASS . 0.0018 . . 0.01 . 0.0012 . . 0.005 0.001 ENSG00000111679:ENST00000456013:exon15:c.T1684C:p.S562P PTPN6:uc009zfl.1:exon15:c.T1684C:p.S562P PTPN6:NM_080549:exon15:c.T1684C:p.S562P . . 0.48076922 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.156 . @ . . . . . 1 0.257 . . 156.0 . . . 0.0007 0.0039 0.0053 0.0007 0.0039 0.0053 . -1.1637 -1.208 -1.164 c . . . . . 1.342e-03 . . . 0 0.0026 0 0 0 0.0061 0 0 0 0.0025 0 0 0.0038 0.0076 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.139 . . exonic exonic exonic . . 0.090 @ . . . 0.2 0.33 182 ENSG00000111679 PTPN6 PTPN6 . . . 1.000 0.747 . 248 0.00381679 64976 242 0.00403427 59986 Benign . 0 . . . . . . T 0.113 0.005 . . 37 . 0.048 . . 0.400 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 4 0.381 . . . . . 0.247 . 0.014 . HET 0.02 rs61753202 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 7.171 0.0 ENST00000456013 III.83 -1.22 . 0.340000 G3V0F8 . . . 0.003942 . 0.028 . . . 0.0004 0.0024 0.0003 0.0114 0 0.0006 0.0042 0.0013 0 0.0006 0.0033 0.0012 0.0232 0 0.0009 0.0054 0.0041 . . 0.351 . -0.253 -0.253000 . . 0.340000 . . 1.0E-255 0.000 0.063 . 0.108 0.002 . 0.168 . 0.391 -0.253 0.079 0.01 rs61753202 rs61753202 rs61753202 rs61753202 1 1538 10 1/0 0,239,255 +rs757270967 12 7947563 G C - NANOG 20857 Nanog homeobox NM_024865.3 1 2103 918 NP_079141.2 Q9H9S0 substitution missense exon GRCh37 7947563 7947563 Chr12(GRCh37):g.7947563G>C 790 790 NM_024865.3:c.790G>C p.Glu264Gln p.Glu264Gln 4 607937 289 3' 90.3313 X.76 0.971564 9.43487 90.3313 X.76 0.971564 9.43487 0 rs757270967 yes no Frequency 1 G 0.000000 0 0.000379 0.000344 0.000088 0.000430 0.000485 0.000293 0.000491 0.000214 0.000478 0.000491 61 6 2 2 7 5 35 2 2 161134 17458 22766 4654 14430 17072 71216 9350 4188 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 6 2 2 7 5 35 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427553|COSM5427553 Thyroid|Haematopoietic and lymphoid tissue 0.004016|0.000283 747|3530 transversion G C G>C 0.843 1.820 E Glu GAG 0.583 Q Gln CAG 0.744 264 12 11 Armadillo 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 29.27 0.00 Tolerated 0.29 III.14 213 PASS . . . . . . . . . . . . NANOG:uc009zfy.1:exon4:c.G790C:p.E264Q . . . 0.1954023 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.409 . @ . . . . . 1 0.463 . . 87.0 . . . . . . . . . . 0.0367 0.010 0.037 c . . . . . 1.389e-04 . . . 0 0.0005 0 0 0 0.0007 0 0.0008 0 0.0003 0 0 0 0.0004 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.928 . . exonic exonic exonic . . 0.481 @ . . . . . . ENSG00000111704 NANOG NANOG . . . 0.146 0.174 . . . . . . . Uncertain_significance . 0 . 0.257 . . . . D 0.594 0.040 . . 37 . 0.894 . . 0.835 . . . 0.708 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.396 . . 0.421 . . . . . . 0 0.357 . . . . . 0.546 . 0.206 . HET 0.09 rs757270967 . . . . . . . . . . . . XII.48 . . IV.17 IV.17 . 0.110000 Q9H9S0 . . . . . 0.374 . . IV.17 0 0.0002 9.098e-05 0.0002 0.0002 0 0.0002 0.0003 0.0003 0.0007 0.0014 0 0.0040 0.0028 0.0006 0.0019 0.0011 . . 0.924 . 2.044 2.044000 . . 0.110000 . . 1.0E-213 1.000 0.715 . 0.261 0.248 . 0.395 . 0.310 2.044 0.697 . rs11532316 rs11532316 rs6488763 rs11532316 1 1538 10 1/0 0,241,255 +. 12 8049330 G A - NANOGP1 23099 Nanog homeobox pseudogene 1 ENST00000607111.1 1 1786 0 substitution intron GRCh37 8049330 8049330 Chr12(GRCh37):g.8049330G>A 263+995 263+995 ENST00000607111.1:n.263+995G>A p.? p.? 1 1 995 5' 84.1408 9.87848 0.955012 3.79163 84.1408 9.87848 0.955012 3.79163 0 transition G A G>A 0.031 0.851 225 PASS . . . . . . . . . . . . . . . . 0.22950819 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 61.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . 0.26 0.09 182 ENSG00000255356 NANOGP1 . . . dist\x3d5538\x3bdist\x3d22494 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs74826360 rs74826360 1 1538 10 1/0 0,255,255 +. 12 8326972 G A - ZNF705A 32281 Zinc finger protein 705A NM_001004328.2 1 3438 903 NP_001004328.1 Q6ZN79 substitution stop gain exon GRCh37 8326972 8326972 Chr12(GRCh37):g.8326972G>A 63 63 NM_001004328.2:c.63G>A p.Trp21* p.Trp21* 2 51 3' 74.7801 5.83597 0.102441 1.28408 74.7801 5.83597 0.102441 1.54093 0 Cryptic Donor Strongly Activated 8326968 0.01306 58.375 4.21918 0.262943 68.4556 Krueppel-associated box COSM5428364|COSM5428364 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transition G A G>A 0.563 1.900 W Trp TGG 1.000 * * TGA 0.489 21 217 PASS . . . . . . . . . . . . ZNF705A:uc001qud.1:exon2:c.G63A:p.W21X ZNF705A:NM_001004328:exon2:c.G63A:p.W21X . . 0.20689656 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.952 . @ . . . . . 0 0.661 . . 58.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W21*|ZNF705A|mRNA|CODING|NM_001004328|NM_001004328.ex.2) . . . . . . . 0.3004 0.009 0.300 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.224 @ . . . 0.24 0.19 182 ENSG00000196946 ZNF705A ZNF705A . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.364 . . . HET 0 . . . . . . . . . . . . . IX.58 . . I.57 I.57 . 1.000000 . . . . . . 0.195 . . . . . . . . . . . . . . . . . . . . . . 0.203 . 1.230 1.230000 . . 1.000000 . . 1.0E-217 1.000 0.715 . 0.244 0.441 . 0.554 . 0.288 1.230 0.562 . rs11235129 rs11235129 rs11235129 rs11235129 1 1538 10 1/0 0,255,255 +. 12 8327016 T C - ZNF705A 32281 Zinc finger protein 705A NM_001004328.2 1 3438 903 NP_001004328.1 Q6ZN79 substitution missense exon GRCh37 8327016 8327016 Chr12(GRCh37):g.8327016T>C 107 107 NM_001004328.2:c.107T>C p.Met36Thr p.Met36Thr 2 -33 5' 82.5954 11.1124 0.993225 5.67113 82.5954 11.1124 0.993225 VI.27 0 Cryptic Donor Strongly Activated 8327011 0.001837 62.5564 0.975176 0.00232 62.2532 Krueppel-associated box COSM6375263 Thyroid 0.002677 747 transition T C T>C 0.827 0.125 M Met ATG 1.000 T Thr ACG 0.116 36 11 11 Dolphin -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C65 0.00 81.04 Deleterious 0 III.47 bad 5.096E-5 7.949E-5 176 PASS . . . . . . . . . . . . ZNF705A:uc001qud.1:exon2:c.T107C:p.M36T ZNF705A:NM_001004328:exon2:c.T107C:p.M36T . . 0.10606061 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.020 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M36T|ZNF705A|mRNA|CODING|NM_001004328|NM_001004328.ex.2) . . . . . . . -0.3325 -0.518 -0.333 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.032 . . exonic exonic exonic . . 0.148 @ . . . . . . ENSG00000196946 ZNF705A ZNF705A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.033 0.002 . . 37 . 0.116 . . 0.147 . . . 0.780 0.203 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.860 . . 0 0 0 0 0 0 . 0.527 . . 0.588 . . . . . . 0 0.433 . . . . . 0.078 . 0.582 . LowAF 0 . . . . . . . . . . . . . 3.688 . . I.57 0.264 . 0.030000 Q6ZN79 . . . . . 0.212 . . . . . . . . . . . . . . . . . . . . . . 0.203 . 0.101 0.101000 . . 0.030000 . . 1.0E-176 1.000 0.715 . 0.182 0.854 . 0.276 . 0.108 0.101 0.615 . . . . . 1 1538 10 1/0 0,244,255 +rs769394294 12 8330033 A G - ZNF705A 32281 Zinc finger protein 705A NM_001004328.2 1 3438 903 NP_001004328.1 Q6ZN79 substitution missense exon GRCh37 8330033 8330033 Chr12(GRCh37):g.8330033A>G 757 757 NM_001004328.2:c.757A>G p.Lys253Glu p.Lys253Glu 5 439 3' 81.7547 6.07399 0.304312 4.65135 81.7547 6.07399 0.304312 4.65135 0 Zinc finger, C2H2 transition A G A>G 1.000 1.416 K Lys AAA 0.425 E Glu GAA 0.417 253 11 1 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 1 III.54 bad 8.693E-5 9.786E-5 181 PASS . . . . . . . . . . . ENSG00000196946:ENST00000359286:exon5:c.A757G:p.K253E ZNF705A:uc001qud.1:exon5:c.A757G:p.K253E ZNF705A:NM_001004328:exon5:c.A757G:p.K253E . . 0.115384616 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.001 . . 130.0 . . . . . . . . . . -1.6066 -1.573 -1.607 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.126 . . exonic exonic exonic . . 0.094 @ . . . . . . ENSG00000196946 ZNF705A ZNF705A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.073 0.003 . . 37 . 0.033 . . 0.431 . . . 0.011 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 0 0.010 . . . . . 0.063 . 0.064 . LowAF 1 . . . . . . . . . . . . . III.65 . ENST00000359286 I.17 -1.08 . . Q6ZN79 . . . . . 0.024 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.365 -0.365000 . . . . . 1.0E-181 0.132 0.232 . 0.043 0.170 . 0.355 . 0.022 -0.365 0.649 . . . . . 1 1538 10 1/0 0,216,255 +rs190462699 12 9016634 A T - A2ML1 23336 Alpha-2-macroglobulin-like 1 NM_144670.5 1 5272 4365 NP_653271.2 A8K2U0 substitution intron GRCh37 9016634 9016634 Chr12(GRCh37):g.9016634A>T 3717+30 3717+30 NM_144670.5:c.3717+30A>T p.? p.? 29 29 610627 30 5' 82.0699 7.82294 0.964965 5.74667 82.0699 7.82294 0.964965 5.95773 0 Cryptic Acceptor Strongly Activated 9016639 6.55998 0.820193 80.1978 IX.11 0.969609 86.6586 rs190462699 yes no Frequency/1000G 2 A 0.000000 0 0.001997 0.000800 0.003100 0.000000 0.004000 0.002900 0.003074 0.001099 0.001560 0.000000 0.000000 0.001730 0.005453 0.000508 0.002986 0.005453 834 26 53 0 0 52 671 13 19 271298 23654 33968 9916 18696 30056 123048 25598 6362 0.000037 0.000000 0.000059 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 5 0 1 0 0 0 4 0 0 824 26 51 0 0 52 663 13 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8210 3847 12057 42 5 47 0.00508968 0.00129803 0.00388301 0.00508968 0.00129803 0.00388301 21 transversion A T A>T 0.000 -0.117 255 PASS 0.002 0.0018 . . 0.004 0.0008 0.002 0.0029 . 0.004 0.0031 . . . . . 0.5714286 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0013 0.0039 0.0051 0.0013 0.0039 0.0051 . 0.0050 . . . . . . . . 2.834e-03 . . . 0.0011 0.0030 0.0016 0 0.0003 0.0049 0.0031 0.0017 0.0010 0.0028 0.0015 0 0.0002 0.0044 0.0016 0.0017 . . . . . . intronic intronic intronic . . . @ . . . 0.17 0.26 182 ENSG00000166535 A2ML1 A2ML1 . . . . . . 260 0.00400148 64976 250 0.00416764 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190462699 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2603013 0.003883 . . . . . 0.0010 0.0031 0.0015 0 0 0.0005 0.0055 0.0033 0.0017 0.0013 0.0029 0.0036 0 0 0.0006 0.0049 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0051 . . rs190462699 rs190462699 1 1538 10 1/0 0,255,255 +rs2432991 (chr12:9450462 G/A) 12 9450462 G A Not on a known gene +rs61917422 (chr12:9458254 G/T) 12 9458254 G T Not on a known gene +. (chr12:9459783 G/A) 12 9459783 G A Not on a known gene +rs200346295 (chr12:9459809 G/C) 12 9459809 G C Not on a known gene +. (chr12:9462681 T/TGCC) 12 9462681 T TGCC Not on a known gene +rs76145334 (chr12:9462682 A/G) 12 9462682 A G Not on a known gene +rs79999791 (chr12:9462683 A/T) 12 9462683 A T Not on a known gene +rs796175504 (chr12:9462685 A/T) 12 9462685 A T Not on a known gene +rs796735553 (chr12:9462686 C/T) 12 9462686 C T Not on a known gene +. (chr12:9464795 T/G) 12 9464795 T G Not on a known gene +. (chr12:9465257 G/C) 12 9465257 G C Not on a known gene +. (chr12:9465398 A/AGC) 12 9465398 A AGC Not on a known gene +. 12 9578777 C A - DDX12P 2737 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene NR_033399.1 -1 3909 0 substitution intron GRCh37 9578777 9578777 Chr12(GRCh37):g.9578777C>A 1678-61 1678-61 NR_033399.1:n.1678-61G>T p.? p.? 15 14 601151 -61 3' 95.0004 VII.66 0.980893 7.85646 95.0004 VII.66 0.980893 7.91869 0 Cryptic Acceptor Strongly Activated 9578770 IX.29 0.847986 80.5092 X.39 0.958471 85.2938 0.001685 0.002868 0.001319 0.003571 0.006861 0.000000 0.000974 0.000303 0.001136 0.006861 45 20 1 1 8 0 13 1 1 26714 6974 758 280 1166 0 13352 3304 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 20 1 1 8 0 13 1 1 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion G T G>T 0.000 -0.844 231 PASS . . . . . . . . . . . . . . . . 0.24742268 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . INTRON(MODIFIER||||DDX12P|Non-coding_transcript|NON_CODING|NR_033399|) . . . . . . . -0.5516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.2 0.14 182 ENSG00000214826 . DDX12P . dist\x3d6100\x3bdist\x3d6236 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0017 0.0013 0.0036 0.0069 0.0003 0.0010 0.0011 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . rs61917422 rs61917422 rs61917422 rs61917422 1 1538 10 1/0 0,241,255 +rs368360579 12 9580392 G T - DDX12P 2737 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene NR_033399.1 -1 3909 0 substitution intron GRCh37 9580392 9580392 Chr12(GRCh37):g.9580392G>T 1609+25 1609+25 NR_033399.1:n.1609+25C>A p.? p.? 13 13 601151 25 5' 94.6711 X.63 0.988684 5.51824 94.6711 X.63 0.988684 4.79801 0 rs368360579 no no 0 G 0.000000 0 0.005816 0.002251 0.008557 0.014599 0.000623 0.000000 0.009259 0.000000 0.010504 0.014599 174 19 7 4 1 0 133 0 10 29916 8442 818 274 1604 0 14364 3462 952 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 174 19 7 4 1 0 133 0 10 0 0 0 0 0 0 0 0 0 RF 36 Genomes transversion C A C>A 0.000 -1.489 181 PASS . . . . . . . . . . . . . . . . 0.11494253 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . INTRON(MODIFIER||||DDX12P|Non-coding_transcript|NON_CODING|NR_033399|) . . . . . . . -0.2982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.23 0.18 182 ENSG00000214826 . DDX12P . dist\x3d7715\x3bdist\x3d4621 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs368360579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0058 0.0086 0.0146 0.0006 0 0.0093 0.0105 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs79676368 rs368360579 1 1538 10 1/0 0,233,255 +rs202220933 12 11034812 G A - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution splice site GRCh37 11034812 11034812 Chr12(GRCh37):g.11034812G>A *18+4 *18+4 NM_001291315.1:c.*18+4C>T p.? p.? 5 5 168730 4 5' 83.8858 10.0302 0.960867 3.97861 84.4974 IX.89 0.95435 3.04693 -0.0188159 rs202220933 yes no Frequency 1 G 0.000000 0 0.003132 0.000962 0.001519 0.002516 0.007358 0.002099 0.002999 0.005917 0.004859 0.007358 860 23 52 25 138 64 376 151 31 274606 23900 34234 9936 18754 30488 125396 25518 6380 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000313 4 0 0 0 0 0 2 1 1 852 23 52 25 138 64 372 149 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.028 -1.005 220 PASS . . . . . . . . . . . . . . . . 0.21259843 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 254.0 . . . . . . . . . . -0.3589 . . . . . . . . 4.325e-03 . . . 0.0009 0.0037 0.0024 0.0119 0.0060 0.0038 0.0085 0.0027 0.0010 0.0043 0.0023 0.0101 0.0067 0.0045 0.0058 0.0028 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.57 0.16 182 ENSG00000231887 . PRH1-PRR4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . 0.0001 0.002 Name\x3ddgv475e1 . . . . . . 0.0007 0.0030 0.0015 0.0026 0.0073 0.0057 0.0027 0.0046 0.0021 0.0015 0.0044 0.0036 0 0.0081 0.0074 0.0050 0.0063 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.022 . . rs202220933 rs202220933 1 1538 10 1/0 0,196,255 +rs747861564 12 11214005 C T - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214005 11214005 Chr12(GRCh37):g.11214005C>T -14351 -14351 NM_001291315.1:c.-133-14218G>A p.? p.? 2 1 168730 -14218 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 rs747861564 yes no Frequency 1 0.000000 0 0.000502 0.000362 0.000383 0.000000 0.001002 0.000000 0.000204 0.002874 0.000502 0.002874 134 8 13 0 18 0 25 67 3 266680 22072 33964 10124 17960 30764 122498 23316 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 134 8 13 0 18 0 25 67 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4602801 Upper aerodigestive tract 0.000804 1244 transition G A G>A 0.008 0.205 181 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.G889A:p.V297M TAS2R46:uc001qzp.1:exon1:c.G889A:p.V297M TAS2R46:NM_176887:exon1:c.G889A:p.V297M . . 0.11494253 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.046 . . 87.0 . . . . . . . . . . -1.0562 -1.129 -1.056 c . . . . . 7.922e-06 . . . 0 1.112e-05 0 0 0.0003 0 0 0 0 9.484e-06 0 0 0.0002 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.225 @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.049 0.002 . . 37 . 0.258 . . 0.278 . . . 0.359 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.158 . . 0.268 . . . . . . 5 0.219 . . . . . 0.116 . 0.126 . LowAF 0.34 . . . . . . . . . . . . . IV.17 . ENST00000533467 II.54 I.59 . 0.200000 P59540 . . . . . 0.009 . . . 0 4.065e-06 2.98e-05 0 0 0 0 0 0 0.0012 0.0064 0.0299 0 0.0252 0.0624 0.0023 0.0059 . . 0.283 . 0.356 0.356000 . . 0.200000 . . 1.0E-181 0.000 0.063 . 0.083 0.003 . 0.015 . 0.077 0.356 -0.743 . . . . . 1 1538 10 1/0 0,233,255 +rs747861564 12 11214005 C T - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution missense exon GRCh37 11214005 11214005 Chr12(GRCh37):g.11214005C>T 889 889 NM_176887.2:c.889G>A p.Val297Met p.Val297Met 1 612774 Mammalian taste receptor rs747861564 yes no Frequency 1 0.000000 0 0.000502 0.000362 0.000383 0.000000 0.001002 0.000000 0.000204 0.002874 0.000502 0.002874 134 8 13 0 18 0 25 67 3 266680 22072 33964 10124 17960 30764 122498 23316 5982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 134 8 13 0 18 0 25 67 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4602801 Upper aerodigestive tract 0.000804 1244 transition G A G>A 0.008 0.205 V Val GTG 0.468 M Met ATG 1.000 297 1 1 1 0 0 5.IX 5.VII 84 105 21 181 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.G889A:p.V297M TAS2R46:uc001qzp.1:exon1:c.G889A:p.V297M TAS2R46:NM_176887:exon1:c.G889A:p.V297M . . 0.11494253 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.046 . . 87.0 . . . . . . . . . . -1.0562 -1.129 -1.056 c . . . . . 7.922e-06 . . . 0 1.112e-05 0 0 0.0003 0 0 0 0 9.484e-06 0 0 0.0002 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.225 @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.049 0.002 . . 37 . 0.258 . . 0.278 . . . 0.359 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.268 . . 0 0 0 0 0 0 . 0.158 . . 0.268 . . . . . . 5 0.219 . . . . . 0.116 . 0.126 . LowAF 0.34 . . . . . . . . . . . . . IV.17 . ENST00000533467 II.54 I.59 . 0.200000 P59540 . . . . . 0.009 . . . 0 4.065e-06 2.98e-05 0 0 0 0 0 0 0.0012 0.0064 0.0299 0 0.0252 0.0624 0.0023 0.0059 . . 0.283 . 0.356 0.356000 . . 0.200000 . . 1.0E-181 0.000 0.063 . 0.083 0.003 . 0.015 . 0.077 0.356 -0.743 . . . . . 1 1538 10 1/0 0,233,255 +rs772092030 12 11214006 A T - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214006 11214006 Chr12(GRCh37):g.11214006A>T -14352 -14352 NM_001291315.1:c.-133-14219T>A p.? p.? 2 1 168730 -14219 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 Cryptic Donor Strongly Activated 11214006 V.07 0.009461 78.0039 5.85038 0.014796 78.4828 rs772092030 yes no Frequency 1 0.000000 0 0.000540 0.000409 0.000412 0.000000 0.001115 0.000000 0.000204 0.003088 0.000669 0.003088 144 9 14 0 20 0 25 72 4 266450 22006 33970 10126 17934 30760 122362 23314 5978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144 9 14 0 20 0 25 72 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4602838 Upper aerodigestive tract 0.000804 1244 transversion T A T>A 0.008 -0.682 185 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.T888A:p.H296Q TAS2R46:uc001qzp.1:exon1:c.T888A:p.H296Q TAS2R46:NM_176887:exon1:c.T888A:p.H296Q . . 0.125 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.057 . . 88.0 . . . . . . . . . . -1.9816 -1.962 -1.982 c . . . . . 7.922e-06 . . . 0 1.111e-05 0 0 0.0003 0 0 0 0 9.482e-06 0 0 0.0002 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.064 @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . 0.000 0.057 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.084 . . 0.265 . . . 0.013 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.047 . 0.019 . LowAF 1 . . . . . . . . . . . . . 2.669 . ENST00000533467 II.54 -2.26 . 1.000000 P59540 . . . . . 0.029 . . . 0 4.065e-06 2.98e-05 0 0 0 0 0 0 0.0013 0.0070 0.0319 0 0.0292 0.0674 0.0023 0.0080 . . 0.283 . -0.765 -0.765000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.016 . 0.000 -0.765 -1.868 . . . . . 1 1538 10 1/0 0,234,255 +rs772092030 12 11214006 A T - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution missense exon GRCh37 11214006 11214006 Chr12(GRCh37):g.11214006A>T 888 888 NM_176887.2:c.888T>A p.His296Gln p.His296Gln 1 612774 Mammalian taste receptor rs772092030 yes no Frequency 1 0.000000 0 0.000540 0.000409 0.000412 0.000000 0.001115 0.000000 0.000204 0.003088 0.000669 0.003088 144 9 14 0 20 0 25 72 4 266450 22006 33970 10126 17934 30760 122362 23314 5978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144 9 14 0 20 0 25 72 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4602838 Upper aerodigestive tract 0.000804 1244 transversion T A T>A 0.008 -0.682 H His CAT 0.413 Q Gln CAA 0.256 296 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 185 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.T888A:p.H296Q TAS2R46:uc001qzp.1:exon1:c.T888A:p.H296Q TAS2R46:NM_176887:exon1:c.T888A:p.H296Q . . 0.125 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.057 . . 88.0 . . . . . . . . . . -1.9816 -1.962 -1.982 c . . . . . 7.922e-06 . . . 0 1.111e-05 0 0 0.0003 0 0 0 0 9.482e-06 0 0 0.0002 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.064 @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . 0.000 0.057 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.084 . . 0.265 . . . 0.013 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.047 . 0.019 . LowAF 1 . . . . . . . . . . . . . 2.669 . ENST00000533467 II.54 -2.26 . 1.000000 P59540 . . . . . 0.029 . . . 0 4.065e-06 2.98e-05 0 0 0 0 0 0 0.0013 0.0070 0.0319 0 0.0292 0.0674 0.0023 0.0080 . . 0.283 . -0.765 -0.765000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.016 . 0.000 -0.765 -1.868 . . . . . 1 1538 10 1/0 0,234,255 +rs770054079 12 11214840 C A - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214840 11214840 Chr12(GRCh37):g.11214840C>A -15186 -15186 NM_001291315.1:c.-133-15053G>T p.? p.? 2 1 168730 -15053 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 rs770054079 yes no Frequency 1 0.000000 0 0.000015 0.000000 0.000029 0.000000 0.000000 0.000000 0.000016 0.000039 0.000000 0.000039 4 0 1 0 0 0 2 1 0 274338 23628 34180 10110 18656 30682 125094 25636 6352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5095454 Thymus 0.006579 152 transversion G T G>T 0.000 -0.360 190 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.G54T:p.V18V TAS2R46:uc001qzp.1:exon1:c.G54T:p.V18V TAS2R46:NM_176887:exon1:c.G54T:p.V18V . . 0.13513513 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.2789 . . . . . . . . 1.192e-04 . . . 0 5.673e-05 8.875e-05 0 0 4.871e-05 0 0.0001 0 5.786e-05 9.151e-05 0 0 5.624e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.226e-05 2.997e-05 0 0 0 1.806e-05 0 0 0 3.373e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . 0.043 . rs73268423 . . 1 1538 10 1/0 0,242,255 +rs770054079 12 11214840 C A - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution synonymous exon GRCh37 11214840 11214840 Chr12(GRCh37):g.11214840C>A 54 54 NM_176887.2:c.54G>T p.Val18= p.Val18Val 1 612774 Mammalian taste receptor rs770054079 yes no Frequency 1 0.000000 0 0.000015 0.000000 0.000029 0.000000 0.000000 0.000000 0.000016 0.000039 0.000000 0.000039 4 0 1 0 0 0 2 1 0 274338 23628 34180 10110 18656 30682 125094 25636 6352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5095454 Thymus 0.006579 152 transversion G T G>T 0.000 -0.360 V Val GTG 0.468 V Val GTT 0.178 18 190 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.G54T:p.V18V TAS2R46:uc001qzp.1:exon1:c.G54T:p.V18V TAS2R46:NM_176887:exon1:c.G54T:p.V18V . . 0.13513513 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . -0.2789 . . . . . . . . 1.192e-04 . . . 0 5.673e-05 8.875e-05 0 0 4.871e-05 0 0.0001 0 5.786e-05 9.151e-05 0 0 5.624e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000226761 TAS2R46 TAS2R46 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . LowAF . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.226e-05 2.997e-05 0 0 0 1.806e-05 0 0 0 3.373e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . 0.043 . rs73268423 . . 1 1538 10 1/0 0,242,255 +rs201891491 12 11214857 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214857 11214857 Chr12(GRCh37):g.11214857T>C -15203 -15203 NM_001291315.1:c.-133-15070A>G p.? p.? 2 1 168730 -15070 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 New Acceptor Site 11214856 7.81325 0.898977 85.3393 rs201891491 yes no Frequency 1 0.000000 0 0.000098 0.000000 0.000090 0.000000 0.000111 0.000103 0.000133 0.000080 0.000000 0.000133 26 0 3 0 2 3 16 2 0 264704 23312 33254 9780 18076 29140 120088 24892 6162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 0 3 0 2 3 16 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1127571|COSM1127571 Thyroid|Prostate 0.001339|0.000567 747|1764 transition A G A>G 0.000 -2.942 199 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.A37G:p.I13V TAS2R46:uc001qzp.1:exon1:c.A37G:p.I13V TAS2R46:NM_176887:exon1:c.A37G:p.I13V . . 0.15789473 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.071 . . 76.0 . . . . . . . . . . -2.1736 -2.254 -2.174 c . . . . . 6.752e-03 . . . 0.0016 0.0044 0.0045 0.0044 0.0061 0.0040 0.0078 0.0067 0.0017 0.0046 0.0046 0.0053 0.0049 0.0043 0.0063 0.0067 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.030 @ . . . 0.29 0.15 182 ENSG00000226761 TAS2R46 TAS2R46 . . . 0.646 0.221 . . . . . . . Likely_benign . 0 . . . . . . T 0.018 0.001 . . 37 . 0.128 . . 0.174 . . . 0.090 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.026 . . 0.112 . . . . . . 5 0.010 . . . . . 0.065 . 0.012 . HET . . 0.120 0.109 . . . . . . . . . . 3.297 . ENST00000533467 II.39 -4.78 . 1.000000 P59540 . . . . . 0.003 . . . 0 0.0001 9.248e-05 0 0.0001 4.652e-05 0.0002 0 0.0001 0 3.383e-05 0 0 0 0.0003 0 0 . . 0.283 . -3.524 -3.524000 . . 1.000000 . . 1.0E-199 0.000 0.063 . 0.016 0.001 . 0.005 . 0.001 -3.524 -0.672 0.12 . . rs201891491 rs201891491 1 1538 10 1/0 0,243,255 +rs201891491 12 11214857 T C - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution missense exon GRCh37 11214857 11214857 Chr12(GRCh37):g.11214857T>C 37 37 NM_176887.2:c.37A>G p.Ile13Val p.Ile13Val 1 612774 Mammalian taste receptor rs201891491 yes no Frequency 1 0.000000 0 0.000098 0.000000 0.000090 0.000000 0.000111 0.000103 0.000133 0.000080 0.000000 0.000133 26 0 3 0 2 3 16 2 0 264704 23312 33254 9780 18076 29140 120088 24892 6162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 0 3 0 2 3 16 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1127571|COSM1127571 Thyroid|Prostate 0.001339|0.000567 747|1764 transition A G A>G 0.000 -2.942 I Ile ATA 0.163 V Val GTA 0.114 13 3 3 4 0 0 5.II 5.IX 111 84 29 199 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.A37G:p.I13V TAS2R46:uc001qzp.1:exon1:c.A37G:p.I13V TAS2R46:NM_176887:exon1:c.A37G:p.I13V . . 0.15789473 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.071 . . 76.0 . . . . . . . . . . -2.1736 -2.254 -2.174 c . . . . . 6.752e-03 . . . 0.0016 0.0044 0.0045 0.0044 0.0061 0.0040 0.0078 0.0067 0.0017 0.0046 0.0046 0.0053 0.0049 0.0043 0.0063 0.0067 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.030 @ . . . 0.29 0.15 182 ENSG00000226761 TAS2R46 TAS2R46 . . . 0.646 0.221 . . . . . . . Likely_benign . 0 . . . . . . T 0.018 0.001 . . 37 . 0.128 . . 0.174 . . . 0.090 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.026 . . 0.112 . . . . . . 5 0.010 . . . . . 0.065 . 0.012 . HET . . 0.120 0.109 . . . . . . . . . . 3.297 . ENST00000533467 II.39 -4.78 . 1.000000 P59540 . . . . . 0.003 . . . 0 0.0001 9.248e-05 0 0.0001 4.652e-05 0.0002 0 0.0001 0 3.383e-05 0 0 0 0.0003 0 0 . . 0.283 . -3.524 -3.524000 . . 1.000000 . . 1.0E-199 0.000 0.063 . 0.016 0.001 . 0.005 . 0.001 -3.524 -0.672 0.12 . . rs201891491 rs201891491 1 1538 10 1/0 0,243,255 +rs200226376 12 11214870 A T - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11214870 11214870 Chr12(GRCh37):g.11214870A>T -15216 -15216 NM_001291315.1:c.-133-15083T>A p.? p.? 2 1 168730 -15083 3' 81.2038 8.30352 0.965766 6.55016 81.2038 8.30352 0.965766 6.55016 0 rs200226376 yes no Frequency 1 0.000000 0 0.000308 0.000129 0.000277 0.000211 0.000281 0.000427 0.000357 0.000243 0.000165 0.000427 80 3 9 2 5 12 42 6 1 259542 23214 32524 9484 17814 28096 117680 24672 6058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 3 9 2 5 12 42 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1127570|COSM1127570 Skin|Prostate 0.000812|0.000567 1232|1764 transversion T A T>A 0.000 -1.328 198 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.T24A:p.I8I TAS2R46:uc001qzp.1:exon1:c.T24A:p.I8I TAS2R46:NM_176887:exon1:c.T24A:p.I8I . . 0.15384616 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.2790 . . . . . . . . 9.456e-03 . . . 0.0020 0.0071 0.0081 0.0062 0.0092 0.0072 0.01 0.0093 0.0021 0.0077 0.0083 0.0082 0.0080 0.0079 0.0084 0.0094 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.23 182 ENSG00000226761 TAS2R46 TAS2R46 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . 0.141 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0002 0.0004 0.0002 0.0004 0 6.739e-05 0 0 0 0.0003 6.983e-05 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . 0.14 . . rs200226376 rs200226376 1 1538 10 1/0 0,241,255 +rs200226376 12 11214870 A T - TAS2R46 18877 Taste receptor, type 2, member 46 NM_176887.2 -1 930 930 NP_795368.2 P59540 substitution synonymous exon GRCh37 11214870 11214870 Chr12(GRCh37):g.11214870A>T 24 24 NM_176887.2:c.24T>A p.Ile8= p.Ile8Ile 1 612774 Mammalian taste receptor rs200226376 yes no Frequency 1 0.000000 0 0.000308 0.000129 0.000277 0.000211 0.000281 0.000427 0.000357 0.000243 0.000165 0.000427 80 3 9 2 5 12 42 6 1 259542 23214 32524 9484 17814 28096 117680 24672 6058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 3 9 2 5 12 42 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1127570|COSM1127570 Skin|Prostate 0.000812|0.000567 1232|1764 transversion T A T>A 0.000 -1.328 I Ile ATT 0.356 I Ile ATA 0.163 8 198 PASS . . . . . . . . . . . ENSG00000226761:ENST00000533467:exon1:c.T24A:p.I8I TAS2R46:uc001qzp.1:exon1:c.T24A:p.I8I TAS2R46:NM_176887:exon1:c.T24A:p.I8I . . 0.15384616 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.2790 . . . . . . . . 9.456e-03 . . . 0.0020 0.0071 0.0081 0.0062 0.0092 0.0072 0.01 0.0093 0.0021 0.0077 0.0083 0.0082 0.0080 0.0079 0.0084 0.0094 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.23 182 ENSG00000226761 TAS2R46 TAS2R46 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . 0.141 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0.0003 0.0002 0.0003 0.0002 0.0004 0.0002 0.0004 0 6.739e-05 0 0 0 0.0003 6.983e-05 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . 0.14 . . rs200226376 rs200226376 1 1538 10 1/0 0,241,255 +rs200393293 12 11285818 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11285818 11285818 Chr12(GRCh37):g.11285818T>C 38069 38069 NM_001291315.1:c.-134+38203A>G p.? p.? 1 1 168730 38203 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 rs200393293 no no 0 T 0.000000 0 0.000331 0.000146 0.000000 0.000000 0.002703 0.000000 0.000281 0.000000 0.001832 0.002703 7 1 0 0 2 0 3 0 1 21128 6866 466 270 740 0 10668 1572 546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 2 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 63 Genomes transition A G A>G 0.000 -0.763 216 PASS . . . . . . . . . . . . . . . . 0.20833333 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.4590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.35 0.37 182 ENSG00000256188 . PRH1-PRR4 ENST00000539585:c.*66A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0.0027 0 0.0003 0.0018 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs200393293 rs200393293 1 1538 10 1/0 0,255,255 +rs200393293 12 11285818 T C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution downstream GRCh37 11285818 11285818 Chr12(GRCh37):g.11285818T>C *66 *66 NM_001097643.1:c.*66A>G p.? p.? 1 613963 rs200393293 no no 0 T 0.000000 0 0.000331 0.000146 0.000000 0.000000 0.002703 0.000000 0.000281 0.000000 0.001832 0.002703 7 1 0 0 2 0 3 0 1 21128 6866 466 270 740 0 10668 1572 546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 2 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 63 Genomes transition A G A>G 0.000 -0.763 216 PASS . . . . . . . . . . . . . . . . 0.20833333 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.4590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.35 0.37 182 ENSG00000256188 . PRH1-PRR4 ENST00000539585:c.*66A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0.0027 0 0.0003 0.0018 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs200393293 rs200393293 1 1538 10 1/0 0,255,255 +rs201063531 12 11285824 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11285824 11285824 Chr12(GRCh37):g.11285824T>C 38063 38063 NM_001291315.1:c.-134+38197A>G p.? p.? 1 1 168730 38197 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 New Donor Site 11285825 5.87157 0.867395 76.9047 rs201063531 no no 0 T 0.000000 0 0.000284 0.000145 0.000000 0.000000 0.002732 0.000000 0.000188 0.000000 0.001767 0.002732 6 1 0 0 2 0 2 0 1 21120 6920 480 248 732 0 10634 1540 566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 2 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 63 Genomes transition A G A>G 0.000 -0.440 218 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.32 0.37 182 ENSG00000256188 . PRH1-PRR4 ENST00000539585:c.*60A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0.0027 0 0.0002 0.0018 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . 0.011 . . rs201063531 rs201063531 1 1538 10 1/0 0,255,255 +rs201063531 12 11285824 T C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution downstream GRCh37 11285824 11285824 Chr12(GRCh37):g.11285824T>C *60 *60 NM_001097643.1:c.*60A>G p.? p.? 1 613963 rs201063531 no no 0 T 0.000000 0 0.000284 0.000145 0.000000 0.000000 0.002732 0.000000 0.000188 0.000000 0.001767 0.002732 6 1 0 0 2 0 2 0 1 21120 6920 480 248 732 0 10634 1540 566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 2 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 63 Genomes transition A G A>G 0.000 -0.440 218 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . . . . . . . . -0.4917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.32 0.37 182 ENSG00000256188 . PRH1-PRR4 ENST00000539585:c.*60A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0.0027 0 0.0002 0.0018 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . 0.011 . . rs201063531 rs201063531 1 1538 10 1/0 0,255,255 +rs763370440 12 11286318 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286318 11286318 Chr12(GRCh37):g.11286318T>C 37569 37569 NM_001291315.1:c.-134+37703A>G p.? p.? 1 1 168730 37703 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 New Acceptor Site 11286317 2.47342 0.017173 73.9905 rs763370440 yes no Frequency 1 T 0.000000 0 0.000694 0.001275 0.000088 0.000099 0.000663 0.000000 0.000916 0.000780 0.001793 0.001275 185 28 3 1 12 0 111 19 11 266702 21956 34126 10118 18092 30778 121142 24356 6134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 185 28 3 1 12 0 111 19 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.732 194 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A526G:p.N176D TAS2R30:uc009zhs.1:exon1:c.A526G:p.N176D TAS2R30:NM_001097643:exon1:c.A526G:p.N176D . . 0.14606741 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.152 . . 89.0 . . . . . . . . . . -1.5420 -1.684 -1.542 c . . . . . 2.605e-04 . . . 9.862e-05 0.0001 0 0 0 0.0002 0 6.06e-05 0 9.438e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.026 @ . . . . . . ENSG00000256188 TAS2R30 TAS2R30 . . . 0.984 0.306 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.182 . . 0.288 . . . 0.315 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.393 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 5 0.088 . . . . . 0.016 . 0.075 . LowAF . . . . . . . . . . . . . . 1.141 . ENST00000539585 2.VI -5.19 . 0.460000 P59541 . . . . . 0.021 . . . 0 2.862e-05 0 0 0 0 6.353e-05 0 0 0.0042 0.0081 0.0054 0.0036 0.0142 0.0089 0.0095 0.0166 . . 0.056 . -1.604 -1.604000 . . 0.460000 . . 1.0E-194 0.000 0.063 . 0.016 0.002 . 0.001 . 0.110 -1.604 0.755 . . . . . 1 1538 10 1/0 0,236,255 +rs763370440 12 11286318 T C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286318 11286318 Chr12(GRCh37):g.11286318T>C 526 526 NM_001097643.1:c.526A>G p.Asn176Asp p.Asn176Asp 1 613963 Mammalian taste receptor rs763370440 yes no Frequency 1 T 0.000000 0 0.000694 0.001275 0.000088 0.000099 0.000663 0.000000 0.000916 0.000780 0.001793 0.001275 185 28 3 1 12 0 111 19 11 266702 21956 34126 10118 18092 30778 121142 24356 6134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 185 28 3 1 12 0 111 19 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.732 N Asn AAT 0.464 D Asp GAT 0.461 176 2 1 2 I.33 I.38 11.VI 13 56 54 23 194 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A526G:p.N176D TAS2R30:uc009zhs.1:exon1:c.A526G:p.N176D TAS2R30:NM_001097643:exon1:c.A526G:p.N176D . . 0.14606741 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.152 . . 89.0 . . . . . . . . . . -1.5420 -1.684 -1.542 c . . . . . 2.605e-04 . . . 9.862e-05 0.0001 0 0 0 0.0002 0 6.06e-05 0 9.438e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.026 @ . . . . . . ENSG00000256188 TAS2R30 TAS2R30 . . . 0.984 0.306 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.064 0.003 . . 37 . 0.182 . . 0.288 . . . 0.315 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.393 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 5 0.088 . . . . . 0.016 . 0.075 . LowAF . . . . . . . . . . . . . . 1.141 . ENST00000539585 2.VI -5.19 . 0.460000 P59541 . . . . . 0.021 . . . 0 2.862e-05 0 0 0 0 6.353e-05 0 0 0.0042 0.0081 0.0054 0.0036 0.0142 0.0089 0.0095 0.0166 . . 0.056 . -1.604 -1.604000 . . 0.460000 . . 1.0E-194 0.000 0.063 . 0.016 0.002 . 0.001 . 0.110 -1.604 0.755 . . . . . 1 1538 10 1/0 0,236,255 +rs200095034 12 11286323 T A - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286323 11286323 Chr12(GRCh37):g.11286323T>A 37564 37564 NM_001291315.1:c.-134+37698A>T p.? p.? 1 1 168730 37698 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 Cryptic Donor Strongly Activated 11286329 0.353095 0.003479 58.2682 3.61069 0.046833 63.5971 rs200095034 yes no Frequency/1000G 2 T 0.000000 0 0.000418 0.000675 0.000029 0.000099 0.000385 0.000000 0.000583 0.000364 0.001294 0.000675 112 15 1 1 7 0 71 9 8 268220 22222 34200 10126 18192 30780 121772 24746 6182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 15 1 1 7 0 71 9 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.198 195 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A521T:p.H174L TAS2R30:uc009zhs.1:exon1:c.A521T:p.H174L TAS2R30:NM_001097643:exon1:c.A521T:p.H174L . . 0.14814815 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.026 . . 81.0 . . . . . . . . . . -1.9167 -1.833 -1.917 c . . . . . 2.526e-04 . . . 9.868e-05 9.95e-05 0 0 0 0.0002 0 6.06e-05 0 9.438e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.093 0.0002 . . . 0.27 0.17 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.311 0.193 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.121 0.005 . . 37 . 0.002 . . 0.436 . . . 0.000 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.071 . 0.112 . LowAF . . . . . . . . . . . . . . III.84 . ENST00000539585 2.VI -1.1 . 1.000000 P59541 . . . . . 0.003 . . . 0 3.269e-05 0 0 0 0 7.255e-05 0 0 0.0022 0.0044 0.0016 0.0036 0.0074 0.0036 0.0055 0.0112 . . 0.056 . -0.395 -0.395000 . . 1.000000 . . 9.999999999999999E-196 0.003 0.159 . 0.016 0.001 . 0.386 . 0.042 -0.395 -0.811 . . . . . 1 1538 10 1/0 0,240,255 +rs200095034 12 11286323 T A - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286323 11286323 Chr12(GRCh37):g.11286323T>A 521 521 NM_001097643.1:c.521A>T p.His174Leu p.His174Leu 1 613963 Mammalian taste receptor rs200095034 yes no Frequency/1000G 2 T 0.000000 0 0.000418 0.000675 0.000029 0.000099 0.000385 0.000000 0.000583 0.000364 0.001294 0.000675 112 15 1 1 7 0 71 9 8 268220 22222 34200 10126 18192 30780 121772 24746 6182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 15 1 1 7 0 71 9 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.198 H His CAT 0.413 L Leu CTT 0.129 174 -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 195 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A521T:p.H174L TAS2R30:uc009zhs.1:exon1:c.A521T:p.H174L TAS2R30:NM_001097643:exon1:c.A521T:p.H174L . . 0.14814815 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.026 . . 81.0 . . . . . . . . . . -1.9167 -1.833 -1.917 c . . . . . 2.526e-04 . . . 9.868e-05 9.95e-05 0 0 0 0.0002 0 6.06e-05 0 9.438e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.093 0.0002 . . . 0.27 0.17 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.311 0.193 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.121 0.005 . . 37 . 0.002 . . 0.436 . . . 0.000 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.071 . 0.112 . LowAF . . . . . . . . . . . . . . III.84 . ENST00000539585 2.VI -1.1 . 1.000000 P59541 . . . . . 0.003 . . . 0 3.269e-05 0 0 0 0 7.255e-05 0 0 0.0022 0.0044 0.0016 0.0036 0.0074 0.0036 0.0055 0.0112 . . 0.056 . -0.395 -0.395000 . . 1.000000 . . 9.999999999999999E-196 0.003 0.159 . 0.016 0.001 . 0.386 . 0.042 -0.395 -0.811 . . . . . 1 1538 10 1/0 0,240,255 +rs113026132 12 11286702 G C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286702 11286702 Chr12(GRCh37):g.11286702G>C 37185 37185 NM_001291315.1:c.-134+37319C>G p.? p.? 1 1 168730 37319 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 rs113026132 yes no Frequency 1 G 0.000000 0 0.000195 0.000348 0.000292 0.000000 0.000327 0.000000 0.000145 0.000278 0.000635 0.000348 53 8 10 0 6 0 18 7 4 272364 23008 34208 10136 18340 30776 124410 25182 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 8 10 0 6 0 18 7 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.016 0.609 203 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.C142G:p.L48V TAS2R30:uc009zhs.1:exon1:c.C142G:p.L48V TAS2R30:NM_001097643:exon1:c.C142G:p.L48V . . 0.16666667 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.664 . . 84.0 . . . . . . . . . . -0.0517 -0.290 -0.052 c . . . . . 6.335e-05 . . . 0 4.444e-05 0.0002 0 0 4.754e-05 0 0 0 4.74e-05 0.0002 0.0003 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.015 . . exonic exonic exonic . . 0.238 @ . . . 0.29 0.15 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.544 0.213 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.085 . . 0.088 . . . 0.867 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.449 . . 0.548 . . . . . . 5 0.413 . . . . . 0.155 . 0.398 . HET . . . . . . . . . . . . . . V.77 . ENST00000539585 II.69 I.78 . 0.050000 P59541 . . . . . 0.289 . . . 0 2.033e-05 8.94e-05 0 0 0 1.795e-05 0 0 0.0010 0.0018 0.0107 0 0.0055 0.0024 0.0012 0.0048 . . 0.283 . 0.461 0.461000 . . 0.050000 . . 1.0E-203 0.992 0.373 . 0.180 0.643 . 0.147 . 0.296 0.461 0.697 . . . rs113026132 rs113026132 1 1538 10 1/0 0,239,255 +rs113026132 12 11286702 G C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286702 11286702 Chr12(GRCh37):g.11286702G>C 142 142 NM_001097643.1:c.142C>G p.Leu48Val p.Leu48Val 1 613963 Mammalian taste receptor rs113026132 yes no Frequency 1 G 0.000000 0 0.000195 0.000348 0.000292 0.000000 0.000327 0.000000 0.000145 0.000278 0.000635 0.000348 53 8 10 0 6 0 18 7 4 272364 23008 34208 10136 18340 30776 124410 25182 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 8 10 0 6 0 18 7 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.016 0.609 L Leu CTC 0.197 V Val GTC 0.240 48 1 1 1 0 0 4.IX 5.IX 111 84 32 203 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.C142G:p.L48V TAS2R30:uc009zhs.1:exon1:c.C142G:p.L48V TAS2R30:NM_001097643:exon1:c.C142G:p.L48V . . 0.16666667 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.664 . . 84.0 . . . . . . . . . . -0.0517 -0.290 -0.052 c . . . . . 6.335e-05 . . . 0 4.444e-05 0.0002 0 0 4.754e-05 0 0 0 4.74e-05 0.0002 0.0003 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.015 . . exonic exonic exonic . . 0.238 @ . . . 0.29 0.15 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.544 0.213 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.085 . . 0.088 . . . 0.867 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.449 . . 0.548 . . . . . . 5 0.413 . . . . . 0.155 . 0.398 . HET . . . . . . . . . . . . . . V.77 . ENST00000539585 II.69 I.78 . 0.050000 P59541 . . . . . 0.289 . . . 0 2.033e-05 8.94e-05 0 0 0 1.795e-05 0 0 0.0010 0.0018 0.0107 0 0.0055 0.0024 0.0012 0.0048 . . 0.283 . 0.461 0.461000 . . 0.050000 . . 1.0E-203 0.992 0.373 . 0.180 0.643 . 0.147 . 0.296 0.461 0.697 . . . rs113026132 rs113026132 1 1538 10 1/0 0,239,255 +rs113799622 12 11286713 A G - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286713 11286713 Chr12(GRCh37):g.11286713A>G 37174 37174 NM_001291315.1:c.-134+37308T>C p.? p.? 1 1 168730 37308 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 rs113799622 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000265 0.000349 0.000263 0.000000 0.000437 0.000000 0.000274 0.000398 0.000477 0.000437 72 8 9 0 8 0 34 10 3 272102 22942 34210 10138 18310 30774 124300 25136 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 8 9 0 8 0 34 10 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.328 211 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000256188:ENST00000539585:exon1:c.T131C:p.V44A TAS2R30:uc009zhs.1:exon1:c.T131C:p.V44A TAS2R30:NM_001097643:exon1:c.T131C:p.V44A . . 0.1882353 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.059 . . 85.0 . . . . . . . . . . -1.9658 -1.985 -1.966 c . . . . . 2.376e-05 . . . 0.0001 2.221e-05 0 0 0 2.376e-05 0 0 0.0001 1.896e-05 0 0 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.374 . . exonic exonic exonic . . 0.028 0.0002 . . . 0.18 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.972 0.293 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.047 0.002 . . 37 . 0.077 . . 0.277 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 5 0.010 . . . . . 0.135 . 0.014 . HET . . . . . . . . . . . . . . IV.96 . ENST00000539585 II.48 -4.95 . 1.000000 P59541 . . . . . 0.005 . . . 6.543e-05 8.133e-06 0 0 0 0 8.973e-06 0 0 0.0009 0.0027 0.0136 0 0.0075 0.0035 0.0026 0.0037 . . 0.283 . -1.177 -1.177000 . . 1.000000 . . 1.0E-211 0.000 0.063 . 0.016 0.015 . 0.014 . 0.039 -1.177 -0.988 . . . rs113799622 rs113799622 1 1538 10 1/0 0,241,255 +rs113799622 12 11286713 A G - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286713 11286713 Chr12(GRCh37):g.11286713A>G 131 131 NM_001097643.1:c.131T>C p.Val44Ala p.Val44Ala 1 613963 Mammalian taste receptor rs113799622 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000265 0.000349 0.000263 0.000000 0.000437 0.000000 0.000274 0.000398 0.000477 0.000437 72 8 9 0 8 0 34 10 3 272102 22942 34210 10138 18310 30774 124300 25136 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 8 9 0 8 0 34 10 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.328 V Val GTT 0.178 A Ala GCT 0.263 44 0 0 -1 0 0 5.IX 8.I 84 31 64 211 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000256188:ENST00000539585:exon1:c.T131C:p.V44A TAS2R30:uc009zhs.1:exon1:c.T131C:p.V44A TAS2R30:NM_001097643:exon1:c.T131C:p.V44A . . 0.1882353 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.059 . . 85.0 . . . . . . . . . . -1.9658 -1.985 -1.966 c . . . . . 2.376e-05 . . . 0.0001 2.221e-05 0 0 0 2.376e-05 0 0 0.0001 1.896e-05 0 0 0 1.842e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.374 . . exonic exonic exonic . . 0.028 0.0002 . . . 0.18 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.972 0.293 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.047 0.002 . . 37 . 0.077 . . 0.277 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 5 0.010 . . . . . 0.135 . 0.014 . HET . . . . . . . . . . . . . . IV.96 . ENST00000539585 II.48 -4.95 . 1.000000 P59541 . . . . . 0.005 . . . 6.543e-05 8.133e-06 0 0 0 0 8.973e-06 0 0 0.0009 0.0027 0.0136 0 0.0075 0.0035 0.0026 0.0037 . . 0.283 . -1.177 -1.177000 . . 1.000000 . . 1.0E-211 0.000 0.063 . 0.016 0.015 . 0.014 . 0.039 -1.177 -0.988 . . . rs113799622 rs113799622 1 1538 10 1/0 0,241,255 +rs113282241 12 11286807 T C - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286807 11286807 Chr12(GRCh37):g.11286807T>C 37080 37080 NM_001291315.1:c.-134+37214A>G p.? p.? 1 1 168730 37214 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 New Acceptor Site 11286806 7.81325 0.702177 85.3393 rs113282241 yes no Frequency 1 T 0.000000 0 0.000756 0.001722 0.000149 0.000000 0.001494 0.000000 0.000553 0.002306 0.001313 0.002306 201 38 5 0 27 0 67 56 8 265816 22072 33656 10006 18074 30446 121188 24280 6094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 201 38 5 0 27 0 67 56 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.167 246 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A37G:p.I13V TAS2R30:uc009zhs.1:exon1:c.A37G:p.I13V TAS2R30:NM_001097643:exon1:c.A37G:p.I13V . . 0.29545453 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.040 . . 88.0 . . . . . . . . . . -2.1845 -2.238 -2.184 c . . . . . 2.303e-04 . . . 0.0002 0.0001 0.0002 0 0.0003 0.0002 0 6.241e-05 0.0002 0.0001 0.0002 0.0003 0.0002 7.72e-05 0 6.277e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.017 @ . . . 0.19 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.790 0.240 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.116 . . 0.342 . . . 0.051 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 5 0.010 . . . . . 0.079 . 0.007 . HET . . . . . . . . . . . . . . III.14 . ENST00000539585 III.32 -6.48 . 0.990000 P59541 . . . . . 0.004 . . . 0 1.238e-05 0 0 0 4.536e-05 1.829e-05 0 0 0.0054 0.0084 0.0097 0 0.0288 0.0246 0.0055 0.0111 . . 0.283 . -0.746 -0.746000 . . 0.990000 . . 1.0E-246 0.000 0.063 . 0.016 0.002 . 0.004 . 0.001 -0.746 -0.672 . . . rs113282241 rs113282241 1 1538 10 1/0 0,250,255 +rs113282241 12 11286807 T C - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution missense exon GRCh37 11286807 11286807 Chr12(GRCh37):g.11286807T>C 37 37 NM_001097643.1:c.37A>G p.Ile13Val p.Ile13Val 1 613963 Mammalian taste receptor rs113282241 yes no Frequency 1 T 0.000000 0 0.000756 0.001722 0.000149 0.000000 0.001494 0.000000 0.000553 0.002306 0.001313 0.002306 201 38 5 0 27 0 67 56 8 265816 22072 33656 10006 18074 30446 121188 24280 6094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 201 38 5 0 27 0 67 56 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.167 I Ile ATA 0.163 V Val GTA 0.114 13 3 3 4 0 0 5.II 5.IX 111 84 29 246 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.A37G:p.I13V TAS2R30:uc009zhs.1:exon1:c.A37G:p.I13V TAS2R30:NM_001097643:exon1:c.A37G:p.I13V . . 0.29545453 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.040 . . 88.0 . . . . . . . . . . -2.1845 -2.238 -2.184 c . . . . . 2.303e-04 . . . 0.0002 0.0001 0.0002 0 0.0003 0.0002 0 6.241e-05 0.0002 0.0001 0.0002 0.0003 0.0002 7.72e-05 0 6.277e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.370 . . exonic exonic exonic . . 0.017 @ . . . 0.19 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . 0.790 0.240 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.116 . . 0.342 . . . 0.051 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.058 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 5 0.010 . . . . . 0.079 . 0.007 . HET . . . . . . . . . . . . . . III.14 . ENST00000539585 III.32 -6.48 . 0.990000 P59541 . . . . . 0.004 . . . 0 1.238e-05 0 0 0 4.536e-05 1.829e-05 0 0 0.0054 0.0084 0.0097 0 0.0288 0.0246 0.0055 0.0111 . . 0.283 . -0.746 -0.746000 . . 0.990000 . . 1.0E-246 0.000 0.063 . 0.016 0.002 . 0.004 . 0.001 -0.746 -0.672 . . . rs113282241 rs113282241 1 1538 10 1/0 0,250,255 +rs111958076 12 11286820 A T - PRH1 9366 Proline-rich protein HaeIII subfamily 1 NM_001291315.1 -1 1052 603 NP_001278244.1 substitution intron GRCh37 11286820 11286820 Chr12(GRCh37):g.11286820A>T 37067 37067 NM_001291315.1:c.-134+37201T>A p.? p.? 1 1 168730 37201 5' 82.5023 7.07454 0.893183 X.85 82.5023 7.07454 0.893183 X.85 0 rs111958076 yes no Frequency 1 A 0.000000 0 0.000570 0.001321 0.000149 0.000000 0.001156 0.000000 0.000396 0.001743 0.000812 0.001743 152 30 5 0 21 0 48 43 5 266648 22702 33508 9926 18162 30182 121340 24668 6160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 152 30 5 0 21 0 48 43 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.528 243 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.T24A:p.I8I TAS2R30:uc009zhs.1:exon1:c.T24A:p.I8I TAS2R30:NM_001097643:exon1:c.T24A:p.I8I . . 0.2840909 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.0588 . . . . . . . . 5.008e-04 . . . 0 0.0002 0.0003 0 0.0003 0.0004 0 6.53e-05 0 0.0002 0.0003 0.0004 0.0002 0.0003 0 6.569e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.329e-05 0 0 5.857e-05 4.554e-05 5.542e-05 0 0 0.0039 0.0055 0.0083 0 0.0184 0.0155 0.0032 0.0061 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs111958076 rs111958076 1 1538 10 1/0 0,249,255 +rs111958076 12 11286820 A T - TAS2R30 19112 Taste receptor, type 2, member 30 NM_001097643.1 -1 960 960 NP_001091112.1 P59541 substitution synonymous exon GRCh37 11286820 11286820 Chr12(GRCh37):g.11286820A>T 24 24 NM_001097643.1:c.24T>A p.Ile8= p.Ile8Ile 1 613963 Mammalian taste receptor rs111958076 yes no Frequency 1 A 0.000000 0 0.000570 0.001321 0.000149 0.000000 0.001156 0.000000 0.000396 0.001743 0.000812 0.001743 152 30 5 0 21 0 48 43 5 266648 22702 33508 9926 18162 30182 121340 24668 6160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 152 30 5 0 21 0 48 43 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.528 I Ile ATT 0.356 I Ile ATA 0.163 8 243 PASS . . . . . . . . . . . ENSG00000256188:ENST00000539585:exon1:c.T24A:p.I8I TAS2R30:uc009zhs.1:exon1:c.T24A:p.I8I TAS2R30:NM_001097643:exon1:c.T24A:p.I8I . . 0.2840909 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.0588 . . . . . . . . 5.008e-04 . . . 0 0.0002 0.0003 0 0.0003 0.0004 0 6.53e-05 0 0.0002 0.0003 0.0004 0.0002 0.0003 0 6.569e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.14 182 ENSG00000256188 TAS2R30 TAS2R30 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 5 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.329e-05 0 0 5.857e-05 4.554e-05 5.542e-05 0 0 0.0039 0.0055 0.0083 0 0.0184 0.0155 0.0032 0.0061 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs111958076 rs111958076 1 1538 10 1/0 0,249,255 +rs12811811 (chr12:11420501 G/A) 12 11420501 G A Not on a known gene +rs12368171 (chr12:11420517 C/T) 12 11420517 C T Not on a known gene +rs11054206 (chr12:11420778 C/T) 12 11420778 C T Not on a known gene +rs12369219 12 11461520 G C - PRB4 9340 Proline-rich protein BstNI subfamily 4 NM_002723.5 -1 918 744 NP_002714.2 substitution missense exon GRCh37 11461520 11461520 Chr12(GRCh37):g.11461520G>C 397 397 NM_002723.5:c.397C>G p.Arg133Gly p.Arg133Gly 3 180990 297 3' 82.3287 9.59953 0.91388 7.42226 82.3287 9.59953 0.91388 7.42226 0 rs12369219 yes no Frequency/1000G 2 C 0.000000 0 0.026557 0.031000 0.066500 0.007900 0.006000 0.018700 0.000051 0.000000 0.000042 0.000000 0.000000 0.000040 0.000019 0.000306 0.000000 0.000306 11 0 1 0 0 1 2 7 0 215116 14684 24032 8738 11862 24884 103312 22900 4704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 0 1 2 7 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4203499 Large intestine 0.000448 2231 transversion C G C>G 0.000 -1.732 R Arg CGT 0.082 G Gly GGT 0.162 133 5 1 -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 242.52 0.00 Tolerated 1 IV.32 217 PASS . . . . . 0.031 0.027 0.019 0.0079 0.006 0.067 . . PRB4:NM_002723:exon3:c.C397G:p.R133G . . 0.20454545 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.126 . @ . . . . . 1 0.016 . . 88.0 . . . . . . . . . . -1.9671 -1.978 -1.967 c . . . . . 7.963e-06 . . . 0 1.127e-05 0 0 0 2.438e-05 0 0 0 9.597e-06 0 0 0 1.878e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.037 . . exonic exonic exonic . . 0.074 0.0266 . . . 0.3 0.29 182 ENSG00000230657 PRB4 PRB4 . . . 0.000 0.035 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.008 . . 0.396 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.174 . . . . . 0.101 . 0.179 . HET 0.69 rs12369219 . . . . . . . . . . . . IV.33 . . 0.904 -1.81 . 0.660000 E9PAL0 . . . . . 0.007 . . . 0 1.003e-05 4.23e-05 0 0 0 0 0 4.019e-05 0 0.0006 0 0 0 0.0034 0.0003 0 . . 0.246 . -1.963 -1.963000 . . 0.660000 . . 1.0E-217 0.000 0.063 . 0.043 0.012 . 0.024 . 0.039 -1.963 -1.800 . rs12369219 rs12369219 rs12369219 rs12369219 1 1538 10 1/0 0,240,255 +rs12369220 12 11461521 G T - PRB4 9340 Proline-rich protein BstNI subfamily 4 NM_002723.5 -1 918 744 NP_002714.2 substitution missense exon GRCh37 11461521 11461521 Chr12(GRCh37):g.11461521G>T 396 396 NM_002723.5:c.396C>A p.His132Gln p.His132Gln 3 180990 296 3' 82.3287 9.59953 0.91388 7.42226 82.3287 9.59953 0.91388 7.42226 0 rs12369220 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.002000 0.000000 0.001000 0.000000 0.000220 0.000413 0.000492 0.000118 0.000290 0.000171 0.000113 0.000321 0.000467 0.000492 44 5 11 1 3 4 11 7 2 200050 12118 22338 8470 10342 23378 97334 21784 4286 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 5 11 1 3 4 11 7 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM225897 Skin 0.000812 1232 transversion C A C>A 0.000 -2.135 H His CAC 0.587 Q Gln CAA 0.256 132 5 1 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 227.83 0.00 Tolerated 1 IV.32 207 PASS . . . . . . 0.0006 . . 0.001 0.002 . . PRB4:NM_002723:exon3:c.C396A:p.H132Q . . 0.17857143 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.007 . . 84.0 . . . . . . . . . . -2.3337 -2.329 -2.334 c . . . . . . . . . 0 1.126e-05 0 0 0 2.435e-05 0 0 0 9.591e-06 0 0 0 1.876e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.074 0.0006 . . . 0.23 0.2 182 ENSG00000230657 PRB4 PRB4 . . . 0.000 0.044 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.032 0.002 . . 37 . 0.007 . . 0.364 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.000 . 0.068 . HET 1 rs12369220 . . . . . . . . . . . . 0.0529 . . 0.904 -1.81 . 0.610000 E9PAL0 . . . . . 0.003 . . . 0.0003 0.0002 0.0005 0.0001 0.0003 0 7.549e-05 0.0003 0.0002 0.0011 0.0017 0.0043 0 0 0.0055 0.0009 0.0030 . . 0.246 . -2.393 -2.393000 . . 0.610000 . . 1.0E-207 0.000 0.063 . 0.043 0.015 . 0.013 . 0.044 -2.393 -1.796 . rs12369220 rs12369220 rs12369220 rs12369220 1 1538 10 1/0 0,240,255 +rs11054243 12 11461549 G C - PRB4 9340 Proline-rich protein BstNI subfamily 4 NM_002723.5 -1 918 744 NP_002714.2 substitution missense exon GRCh37 11461549 11461549 Chr12(GRCh37):g.11461549G>C 368 368 NM_002723.5:c.368C>G p.Pro123Arg p.Pro123Arg 3 180990 268 3' 82.3287 9.59953 0.91388 7.42226 82.3287 9.59953 0.91388 7.42226 0 rs11054243 yes no Frequency/1000G 2 G 0.000000 0 0.000106 0.000338 0.000179 0.000148 0.000000 0.000059 0.000064 0.000096 0.000312 0.000338 14 3 3 1 0 1 4 1 1 132642 8876 16758 6760 7232 16810 62558 10440 3208 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 3 3 1 0 1 4 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396|COSM1628396 Upper aerodigestive tract|Thyroid|Prostate|Pancreas|Oesophagus|Liver|Haematopoietic and lymphoid tissue|Central nervous system|Breast 0.013930|0.006693|0.001134|0.001138|0.000712|0.000422|0.000850|0.002079|0.000815 1364|747|1764|1758|1405|2371|3530|2405|2453 transversion C G C>G 0.283 0.205 P Pro CCA 0.274 R Arg CGA 0.110 123 5 3 Olive baboon -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 244.67 0.00 Tolerated 1 IV.32 255 PASS 0.05 0.07 0.1 0.06 0.06 . . . . . . . . PRB4:NM_002723:exon3:c.C368G:p.P123R . . 0.42718446 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.000 . . 103.0 . . . . . . . . . . -1.2322 -1.343 -1.232 c . . . . . 3.645e-05 . . . 0.0003 8.128e-05 0 0 0 0.0001 0 0 0.0004 3.743e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.080 . . exonic exonic exonic . . 0.126 0.0046 . . . 0.23 0.18 182 ENSG00000230657 PRB4 PRB4 . . . 0.000 0.012 . 10161 0.156381 64976 9330 0.155536 59986 Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.003 . . 0.386 . . . . 0.198 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.435 . . 0 0 0 0 0 0 . 0.112 . . 0.063 . . . . . . 1 0.249 . . . . . 0.118 . 0.277 . HET 0.18 rs11054243 0.011 0.014 . . . . . 0.06547619047619048 0.054878048780487805 0.09944751381215469 0.05944055944055944 0.06068601583113457 IV.53 0.088283 . 0.796 -0.165 . 0.340000 E9PAL0 . . . . . 0.069 . . . 0.0006 7.601e-05 0.0001 0 0 0 3.598e-05 0.0004 5.949e-05 0 0.0004 0.0023 0.0082 0 0.0005 0.0003 0 . . 0.246 . -0.098 -0.098000 . . 0.340000 . . 1.0E-255 0.015 0.189 . 0.095 0.090 . 0.037 . 0.006 -0.098 0.142 0.1 rs11054243 rs11054243 rs11054243 rs11054243 1 1538 10 1/0 0,250,255 +rs555881001 12 11506471 T C - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution missense exon GRCh37 11506471 11506471 Chr12(GRCh37):g.11506471T>C 566 566 NM_005039.3:c.566A>G p.Lys189Arg p.Lys189Arg 3 180989 -464 5' 84.4974 IX.89 0.95435 3.54943 84.4974 IX.89 0.95435 3.54943 0 rs555881001 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.001500 0.013300 0.000000 0.002000 0.001400 0.002723 0.002615 0.003090 0.001784 0.001535 0.004099 0.002556 0.002040 0.006206 0.004099 315 30 47 6 18 57 125 18 14 115670 11474 15208 3364 11728 13906 48912 8822 2256 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 315 30 47 6 18 57 125 18 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.409 K Lys AAA 0.425 R Arg AGA 0.205 189 3 2 3 0.33 0.65 11.III 10.V 119 124 26 221 PASS . . . . . 0.0015 0.0036 0.0014 . 0.002 0.013 . PRB1:uc001qzw.1:exon4:c.A563G:p.K188R UNKNOWN . . 0.21818182 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.060 . @ . . . . . 1 0.021 . . 55.0 . . . . . . . . . . -0.5540 -0.258 -0.554 n . . . . . . . . . 0.0245 0.0330 0.0345 0.0118 0.0321 0.0388 0.0271 0.0363 0.0216 0.0314 0.0341 0.0096 0.0340 0.0359 0.0409 0.0364 . nonsynonymous_SNV unknown . . . intronic exonic exonic . . 0.065 0.0036 . . . . . . ENSG00000251655 PRB1 PRB1 . . . 0.001 0.075 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.079 . 0.031 . HET . rs555881001 . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 . . . 0.0016 0.0025 0.0029 0.0018 0.0015 0.0014 0.0024 0.0056 0.0041 0.0101 0.0095 0.0263 0 0.0026 0.0191 0.0064 0.0196 . . 0.004 . . . . . . . . 1.0E-221 0.000 0.063 . 0.016 0.004 . 0.075 . 0.027 . 0.062 . . . . . 1 1538 10 1/0 0,255,255 +rs755622101 12 11506486 G T - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution missense exon GRCh37 11506486 11506486 Chr12(GRCh37):g.11506486G>T 551 551 NM_005039.3:c.551C>A p.Pro184Gln p.Pro184Gln 3 180989 451 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs755622101 yes no Frequency 1 G 0.000000 0 0.000933 0.000504 0.002077 0.000975 0.000162 0.000798 0.000802 0.001042 0.001978 0.002077 119 6 36 4 2 13 42 11 5 127494 11902 17330 4104 12378 16298 52394 10560 2528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 6 36 4 2 13 42 11 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.862 0.367 P Pro CCA 0.274 Q Gln CAA 0.256 184 -1 -1 -3 0.39 0.89 8 10.V 32.5 85 76 214 PASS . . . . . . . . . . . . PRB1:uc001qzw.1:exon4:c.C548A:p.P183Q UNKNOWN . . 0.19767442 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.096 . @ . . . . . 1 0.042 . . 86.0 . . . . . . . . . . -0.3246 -0.224 -0.325 n . . . . . 2.108e-03 . . . 0.0022 0.0025 0.0010 0.0013 0.0005 0.0034 0.0029 0.0032 0.0010 0.0012 0.0010 0.0006 0.0012 0.0009 0 0.0031 . nonsynonymous_SNV unknown . . . intronic exonic exonic . . 0.130 @ . . . . . . ENSG00000251655 PRB1 PRB1 . . . 0.000 0.048 . 3598 0.0553743 64976 3590 0.0598473 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.027 . 0.103 . HET . rs755622101 . . . . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . 0.0002 0.0008 0.0019 0.0007 8.252e-05 0.0009 0.0008 0.0016 0.0008 0.0027 0.0044 0.0286 0.025 0.0038 0.0071 0.0018 0.0111 . . 0.004 . . . . . . . . 1.0E-214 0.000 0.063 . 0.016 0.024 . 0.009 . 0.002 . -1.574 . . . . . 1 1538 10 1/0 0,241,255 +rs113485215 12 11506533 T C - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution synonymous exon GRCh37 11506533 11506533 Chr12(GRCh37):g.11506533T>C 504 504 NM_005039.3:c.504A>G p.Gln168= p.Gln168Gln 3 180989 404 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs113485215 yes no Frequency 1 0.000000 0 0.000337 0.000661 0.000463 0.000000 0.000081 0.000274 0.000337 0.000378 0.000000 0.000661 38 8 7 0 1 4 15 3 0 112644 12106 15110 3864 12320 14600 44492 7928 2224 0.000036 0.000165 0.000000 0.000000 0.000000 0.000137 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 34 6 7 0 1 2 15 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.005 Q Gln CAA 0.256 Q Gln CAG 0.744 168 241 PASS . . . . . . . . . . . . PRB1:uc001qzw.1:exon4:c.A501G:p.Q167Q UNKNOWN . . 0.2777778 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . -0.6665 . . . . . . . . 3.410e-04 . . . 0.0003 0.0005 0.0001 0 0 0.0005 0 0.0012 0.0003 0.0004 0.0002 0 0 0.0003 0 0.0011 . synonymous_SNV unknown . . . intronic exonic exonic . . . @ . . . 0.26 0.24 182 ENSG00000251655 PRB1 PRB1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs113485215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0.0003 0 8.508e-05 0 0.0002 0 0.0003 0.0029 0.0042 0.0224 0 0 0.0091 0.0053 0 . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . . . . rs113485215 rs113485215 1 1538 10 1/0 0,255,255 +rs199764037 12 11506582 C T - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution missense exon GRCh37 11506582 11506582 Chr12(GRCh37):g.11506582C>T 455 455 NM_005039.3:c.455G>A p.Arg152Gln p.Arg152Gln 3 180989 355 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs199764037 yes no Frequency/1000G 2 C 0.000000 0 0.048722 0.040100 0.062400 0.028800 0.052700 0.069200 0.000039 0.000000 0.000000 0.000000 0.000241 0.000000 0.000043 0.000000 0.000000 0.000241 6 0 0 0 3 0 3 0 0 152950 11496 19610 5174 12454 19712 69408 12092 3004 0.333333 0.000000 0.000000 0.000000 0.333333 0.000000 0.333333 0.000000 0.000000 2 0 0 0 1 0 1 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 154 Exomes transition G A G>A 0.000 -0.360 R Arg CGA 0.110 Q Gln CAA 0.256 152 1 1 1 0.65 0.89 10.V 10.V 124 85 43 215 PASS . . . . . 0.04 0.049 0.069 0.029 0.053 0.062 . . UNKNOWN . . 0.1981982 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.091 . @ . . . . . 1 0.019 . . 111.0 . . . . . . . . . . -0.3145 -0.222 -0.315 n . . . . . 1.858e-05 . . . 0 3.008e-05 0 0.0004 0 0 0 0 0 2.476e-05 0 0.0003 0 0 0 0 . . unknown . . . intronic splicing exonic . . 0.087 0.0487 . . . 0.29 0.24 182 ENSG00000251655 PRB1 PRB1 . . . 0.000 0.052 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.182 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.333 . . . HET . rs199764037 . . . . . . . . . . . . . . . . . . . . . . . . . 0.032 . . . 0 3.923e-05 0 0 0.0002 0 4.322e-05 0 0 . . . . . . . . . . 0.004 . . . . . . . . 1.0E-215 0.001 0.137 . 0.043 0.013 . 0.207 . 0.051 . 0.057 . . . rs199764037 rs199764037 1 1538 10 1/0 0,230,255 +rs112485268 12 11506591 C T - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution missense exon GRCh37 11506591 11506591 Chr12(GRCh37):g.11506591C>T 446 446 NM_005039.3:c.446G>A p.Arg149Gln p.Arg149Gln 3 180989 346 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs112485268 yes no Frequency/1000G 2 C 0.000000 0 0.000891 0.000211 0.001312 0.000000 0.000154 0.002290 0.001025 0.000528 0.000000 0.002290 49 2 9 0 1 16 19 2 0 54988 9492 6862 1802 6512 6986 18542 3790 1002 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000108 0.000000 0.000000 1 0 0 0 0 0 1 0 0 47 2 9 0 1 16 17 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.167 R Arg CGA 0.110 Q Gln CAA 0.256 149 1 1 1 0.65 0.89 10.V 10.V 124 85 43 212 PASS 0.24 0.37 0.43 0.34 0.46 . . . . . . . PRB1:uc001qzw.1:exon3:c.G446A:p.R149Q UNKNOWN . . 0.19130434 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.077 . @ . . . . . 1 0.033 . . 115.0 . . . . . . . . . . -0.4914 -0.249 -0.491 n . . . . . 7.981e-03 . . . 0.0067 0.0131 0.0036 0.0051 0.0185 0.0141 0.0204 0.0286 0.0072 0.0112 0.0037 0.0023 0.0123 0.0109 0.0206 0.0286 . nonsynonymous_SNV unknown . . . intronic exonic exonic . . 0.071 @ . . . 0.34 0.32 182 ENSG00000251655 PRB1 PRB1 . . . 0.000 0.065 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.001 . 0.061 . HET . rs112485268 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0.0003 0.0008 0.0012 0 0.0002 0.0003 0.0008 0 0.0023 0 0.0018 0.0086 0 0 0.0037 0.0046 0 . . 0.004 . . . . . . . . 1.0E-212 0.000 0.063 . 0.016 0.049 . 0.023 . 0.052 . 0.057 0.46 . . rs112485268 rs112485268 1 1538 10 1/0 0,228,255 +rs372620668 12 11506647 T C - PRB1 9337 Proline-rich protein BstNI subfamily 1 NM_005039.3 -1 1173 996 NP_005030.2 substitution synonymous exon GRCh37 11506647 11506647 Chr12(GRCh37):g.11506647T>C 390 390 NM_005039.3:c.390A>G p.Gln130= p.Gln130Gln 3 180989 290 3' 95.2677 XII.68 0.982337 16.337 95.2677 XII.68 0.982337 16.337 0 rs372620668 yes no Frequency 1 T 0.000000 0 0.000295 0.000580 0.000343 0.000000 0.000151 0.000000 0.000150 0.001088 0.001036 0.001088 54 9 8 0 2 0 12 19 4 182912 15522 23344 6644 13264 22686 80124 17468 3860 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000114 0.000000 1 0 0 0 0 0 0 1 0 52 9 8 0 2 0 12 17 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.079 -0.037 Q Gln CAA 0.256 Q Gln CAG 0.744 130 195 PASS . . . . . . . . . . . . PRB1:uc001qzw.1:exon3:c.A390G:p.Q130Q UNKNOWN . . 0.14619882 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 171.0 . . . . . . . . . . -0.4772 . . . . . . . . 2.052e-03 . . . 0.0011 0.0016 0.0010 0.0008 0.0003 0.0026 0.0017 0.0008 0.0011 0.0019 0.0009 0.0017 0.0011 0.0028 0 0.0008 . synonymous_SNV unknown . . . intronic exonic exonic . . . @ . . . . . . ENSG00000251655 PRB1 PRB1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs372620668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.41e-05 5.194e-05 0.0001 0 0.0002 0 3.939e-05 0 0 0.0022 0.0047 0.0185 0 0 0.0269 0.0023 0.0156 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs372620668 rs372620668 1 1538 10 1/0 0,207,255 +rs201144571 12 11546677 C T - PRB2 9338 Proline-rich protein BstNI subfamily 2 NM_006248.3 -1 1428 1251 NP_006239.3 P02812 substitution missense exon GRCh37 11546677 11546677 Chr12(GRCh37):g.11546677C>T 335 335 NM_006248.3:c.335G>A p.Arg112Gln p.Arg112Gln 3 168810 235 3' 96.7783 XI.18 0.986555 15.8135 96.7783 XI.18 0.986555 15.8135 0 Proline-rich region Molluscan rhodopsin C-terminal tail A.T hook-like rs201144571 yes no Frequency 1 C 0.000000 0 0.000202 0.000531 0.000075 0.000000 0.000067 0.000038 0.000286 0.000045 0.000202 0.000531 46 10 2 0 1 1 30 1 1 227600 18840 26798 8666 15018 26120 104854 22364 4940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 10 2 0 1 1 30 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8595 4403 12998 5 3 8 0.000581395 0.00068089 0.000615101 0.000581395 0.00068089 0.000615101 347 COSM4767709|COSM4767709|COSM4767709|COSM4767709|COSM4767709 Thyroid|Liver|Large intestine|Haematopoietic and lymphoid tissue|Biliary tract 0.002677|0.000422|0.000450|0.000283|0.002558 747|2371|2220|3530|391 transition G A G>A 0.016 -0.037 R Arg CGA 0.110 Q Gln CAA 0.256 112 11 2 Gorilla 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 244.67 0.00 Tolerated 0.14 II.76 good 1.148E-1 0.087 157 PASS . . . . . . . . . . . ENSG00000121335:ENST00000389362:exon3:c.G335A:p.R112Q PRB2:uc010shk.1:exon3:c.G335A:p.R112Q PRB2:NM_006248:exon3:c.G335A:p.R112Q . . 0.12184874 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.173 . @ . . . . . 1 0.060 . . 238.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R112Q|PRB2|mRNA|CODING|NM_006248|NM_006248.ex.3) 0.0007 0.0006 0.0006 0.0007 0.0006 0.0006 . -1.3578 -1.467 -1.358 c . . . . . 4.998e-04 . . . 0.0004 0.0004 0 0 0 0.0004 0.0015 0.0007 0.0005 0.0003 0 0.0001 0 0.0003 0.0015 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.038 . . exonic exonic exonic . . 0.078 @ . . . 0.33 0.28 182 ENSG00000121335 PRB2 PRB2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.019 . . 0.481 . . . 0.291 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.132 . . 0 0 0 0 0 0 . 0.278 . . 0.121 . . . . . . 0 . . . . . . 0.128 . 0.065 . LowAF 0.29 rs201144571 . . . . . . . . . . . . IV.65 0.00107 ENST00000389362 I.17 -1.67 . 0.460000 P02812 . . . 0.000615 . 0.002 . . . 0.0004 5.67e-05 7.586e-05 0 0 0 4.095e-05 0 3.828e-05 0.0009 0.0021 0 0 0.0010 0.0007 0.0036 0.0021 . . 0.246 . -0.353 -0.353000 . . 0.460000 . . 1.0E-157 0.007 0.175 . 0.095 0.108 . 0.216 . 0.238 -0.353 0.057 0.0007 . . rs76491584 rs201144571 1 1538 15 1/0 0,192,255 +rs563776867 12 11546749 T C - PRB2 9338 Proline-rich protein BstNI subfamily 2 NM_006248.3 -1 1428 1251 NP_006239.3 P02812 substitution missense exon GRCh37 11546749 11546749 Chr12(GRCh37):g.11546749T>C 263 263 NM_006248.3:c.263A>G p.Lys88Arg p.Lys88Arg 3 168810 163 3' 96.7783 XI.18 0.986555 15.8135 96.7783 XI.18 0.986555 15.8135 0 Proline-rich region Molluscan rhodopsin C-terminal tail A.T hook-like rs563776867 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000072 0.000050 0.000162 0.000000 0.000000 0.000210 0.000052 0.000000 0.000000 0.000210 18 1 5 0 0 6 6 0 0 250028 19992 30956 9318 17066 28590 114574 23908 5624 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 1 5 0 0 6 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4203574|COSM4203574|COSM4203574 Thyroid|Pancreas|Lung 0.002677|0.000576|0.000837 747|1736|2389 transition A G A>G 0.409 0.367 K Lys AAA 0.425 R Arg AGA 0.205 88 11 1 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 0.6 III.40 unknown 0.0 0.0 178 PASS . . . . . . 0.0004 . 0.002 . . ENSG00000121335:ENST00000389362:exon3:c.A263G:p.K88R PRB2:uc010shk.1:exon3:c.A263G:p.K88R PRB2:NM_006248:exon3:c.A263G:p.K88R . . 0.10958904 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.032 . . 146.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K88R|PRB2|mRNA|CODING|NM_006248|NM_006248.ex.3) . . . . . . . -0.9848 -1.128 -0.985 c . . . . . 1.195e-04 . . . 0 7.357e-05 0 0.0002 0 7.951e-05 0 0.0001 0 6.263e-05 0 0.0001 0 6.132e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.036 . . exonic exonic exonic . . 0.193 0.0004 . . . . . . ENSG00000121335 PRB2 PRB2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.018 . . 0.452 . . . 0.469 0.265 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.277 . . 0 0 0 0 0 0 . 0.442 . . 0.317 . . . . . . 0 . . . . . . 0.201 . 0.126 . LowAF 0.67 rs563776867 . . . . . . . . . . . . VI.26 . ENST00000389362 1.VI 1.VI . 0.610000 P02812 . . . . . 0.025 . . . 0 6.529e-05 0.0002 0 0 0 3.817e-05 0 0.0002 0.0002 0.0001 0 0 0 0 0.0002 0 . . 0.246 . 0.378 0.378000 . . 0.610000 . . 1.0E-178 0.001 0.137 . 0.016 0.141 . 0.048 . 0.272 0.378 0.062 . . . . . 1 1538 10 1/0 0,211,255 +rs75750739 12 12483030 C T - MANSC1 25505 MANSC domain containing 1 NM_018050.2 -1 2297 1296 NP_060520.2 Q9H8J5 substitution synonymous exon GRCh37 12483030 12483030 Chr12(GRCh37):g.12483030C>T 1227 1227 NM_018050.2:c.1227G>A p.Ser409= p.Ser409Ser 4 863 3' 80.5225 9.09755 0.607544 3.85554 80.5225 9.09755 0.607544 3.85554 0 rs75750739 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.005100 0.000000 0.005000 0.004300 0.006002 0.001416 0.003022 0.000690 0.000053 0.003314 0.009083 0.009268 0.004021 0.009268 1663 34 104 7 1 102 1150 239 26 277084 24016 34416 10146 18870 30778 126604 25788 6466 0.000029 0.000000 0.000000 0.000000 0.000000 0.000065 0.000047 0.000000 0.000000 4 0 0 0 0 1 3 0 0 1655 34 104 7 1 100 1144 239 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8514 4398 12912 86 8 94 0.01 0.00181571 0.00722743 0.01 0.00181571 0.00722743 86 transition G A G>A 0.000 -1.732 S Ser TCG 0.056 S Ser TCA 0.148 409 255 PASS . 0.0023 0.0028 . 0.01 . 0.0026 0.0043 . 0.005 0.0051 . . MANSC1:NM_018050:exon4:c.G1227A:p.S409S . . 0.5540541 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S409|MANSC1|mRNA|CODING|NM_018050|NM_018050.ex.4) 0.0018 0.0072 0.01 0.0018 0.0072 0.01 . -0.1723 . . . . . . . . 5.975e-03 . . . 0.0015 0.0049 0.0022 0.0002 0.0095 0.0075 0.0084 0.0029 0.0013 0.0057 0.0021 0.0001 0.0094 0.0084 0.0086 0.0029 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.2 0.3 182 ENSG00000111261 MANSC1 MANSC1 . . . . . . 403 0.00620229 64976 390 0.00650152 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75750739 . . . . . . . . . . . . . . . . . . . . . . . 0.007227 . . . . . 0.0012 0.0059 0.0030 0.0006 5.798e-05 0.0096 0.0090 0.0033 0.0033 0.0017 0.0066 0.0048 0.0033 0 0.0074 0.0100 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs75750739 rs75750739 1 1538 10 1/0 0,255,255 +rs77117939 12 13153388 G T - HEBP1 17176 Heme binding protein 1 NM_015987.4 -1 1209 570 NP_057071.2 Q9NRV9 substitution upstream GRCh37 13153388 13153388 Chr12(GRCh37):g.13153388G>T -340 -340 NM_015987.4:c.-340C>A p.? p.? 1 605826 -418 5' 83.8341 10.0781 0.987929 8.27506 83.8341 10.0781 0.987929 8.27506 0 rs77117939 no no 0 G 0.000000 0 transversion C A C>A 0.047 1.093 255 PASS . . . . . . . . . . . . . . . . 0.43421054 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 76.0 . . . . . . . . . . 0.7202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.48 182 . . HTR7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs77117939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77117939 rs77117939 1 1538 10 1/0 0,255,255 +rs77117939 12 13153388 G T - HTR7P1 30411 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 NR_002774.3 1 4389 0 substitution exon GRCh37 13153388 13153388 Chr12(GRCh37):g.13153388G>T 13 13 NR_002774.3:n.13G>T 1 rs77117939 no no 0 G 0.000000 0 transversion G T G>T 0.047 1.093 255 PASS . . . . . . . . . . . . . . . . 0.43421054 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 76.0 . . . . . . . . . . 0.7202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.48 182 . . HTR7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs77117939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77117939 rs77117939 1 1538 10 1/0 0,255,255 +rs5021038 12 13153397 G C - HEBP1 17176 Heme binding protein 1 NM_015987.4 -1 1209 570 NP_057071.2 Q9NRV9 substitution upstream GRCh37 13153397 13153397 Chr12(GRCh37):g.13153397G>C -349 -349 NM_015987.4:c.-349C>G p.? p.? 1 605826 -427 5' 83.8341 10.0781 0.987929 8.27506 83.8341 10.0781 0.987929 8.27506 0 rs5021038 yes no Frequency/1000G 2 G 0.000000 0 0.002959 0.000613 0.003300 0.000000 0.000707 0.000000 0.005460 0.000000 0.005128 0.005460 77 5 2 0 1 0 65 0 4 26024 8162 606 234 1414 0 11904 2924 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 5 2 0 1 0 65 0 4 0 0 0 0 0 0 0 0 0 PASS 46 Genomes transversion C G C>G 0.000 -0.521 222 PASS 0.04 0.2 0.27 0.13 0.32 . . . . . . . . . . . 0.22093023 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 86.0 . . . . . . . . . . 0.6101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.42 0.46 182 . . HTR7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs5021038 0.109 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0030 0.0033 0 0.0007 0 0.0055 0.0051 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . 0.32 rs5021038 rs5021038 rs5021038 rs5021038 1 1538 10 1/0 0,243,255 +rs5021038 12 13153397 G C - HTR7P1 30411 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 NR_002774.3 1 4389 0 substitution exon GRCh37 13153397 13153397 Chr12(GRCh37):g.13153397G>C 22 22 NR_002774.3:n.22G>C 1 rs5021038 yes no Frequency/1000G 2 G 0.000000 0 0.002959 0.000613 0.003300 0.000000 0.000707 0.000000 0.005460 0.000000 0.005128 0.005460 77 5 2 0 1 0 65 0 4 26024 8162 606 234 1414 0 11904 2924 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 5 2 0 1 0 65 0 4 0 0 0 0 0 0 0 0 0 PASS 46 Genomes transversion G C G>C 0.000 -0.521 222 PASS 0.04 0.2 0.27 0.13 0.32 . . . . . . . . . . . 0.22093023 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 86.0 . . . . . . . . . . 0.6101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.42 0.46 182 . . HTR7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs5021038 0.109 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0030 0.0033 0 0.0007 0 0.0055 0.0051 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . 0.32 rs5021038 rs5021038 rs5021038 rs5021038 1 1538 10 1/0 0,243,255 +rs71530944 12 14613631 A G - ATF7IP 20092 Activating transcription factor 7 interacting protein NM_181352.1 1 9019 3837 NP_851997.1 substitution synonymous exon GRCh37 14613631 14613631 Chr12(GRCh37):g.14613631A>G 2385 2385 NM_181352.1:c.2385A>G p.Val795= p.Val795Val 9 613644 203 3' 86.0307 9.02334 0.961614 5.24455 86.0307 9.02334 0.961614 5.24455 0 Cryptic Acceptor Strongly Activated 14613642 5.50595 0.291316 80.8777 6.69776 0.390389 80.8777 rs71530944 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.001574 0.000166 0.000668 0.000394 0.000053 0.000130 0.002710 0.001863 0.001392 0.002710 436 4 23 4 1 4 343 48 9 277030 24032 34408 10148 18860 30774 126576 25768 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 434 4 23 4 1 4 341 48 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4405 12980 25 1 26 0.00290698 0.000226963 0.00199908 0.00290698 0.000226963 0.00199908 126 transition A G A>G 0.992 0.044 V Val GTA 0.114 V Val GTG 0.468 795 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0029 . 0.001 . . . . . . 0.5106383 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 94.0 . . . 0.0002 0.002 0.0029 0.0002 0.002 0.0029 . I.25 . . . . . . . . 1.642e-03 . . . 0.0002 0.0011 0.0003 0 0.0018 0.0020 0.0014 0.0002 0.0001 0.0016 0.0003 0.0001 0.0018 0.0028 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.55 0.27 182 ENSG00000171681 ATF7IP ATF7IP . . . . . . 96 0.00147747 64976 93 0.00155036 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs71530944 . . . . . . . . . . . . . . . . . . . . . . . 0.001999 . . . . . 0.0001 0.0014 0.0007 0.0004 5.801e-05 0.0018 0.0025 0.0009 0.0001 0.0002 0.0026 0 0 0 0.0023 0.0045 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . rs71530944 rs71530944 rs71530944 1 1538 10 1/0 0,255,255 +rs147638471 12 14631338 C T - ATF7IP 20092 Activating transcription factor 7 interacting protein NM_181352.1 1 9019 3837 NP_851997.1 substitution missense exon GRCh37 14631338 14631338 Chr12(GRCh37):g.14631338C>T 3053 3053 NM_181352.1:c.3053C>T p.Pro1018Leu p.Pro1018Leu 12 613644 -69 5' 87.8485 8.76378 0.975606 4.20219 87.8485 8.76378 0.975606 3.93642 0 rs147638471 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000069 0.000083 0.000000 0.000000 0.000159 0.000032 0.000103 0.000000 0.000000 0.000159 19 2 0 0 3 1 13 0 0 276952 24022 34408 10146 18860 30782 126480 25794 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 2 0 0 3 1 13 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 178 transition C T C>T 0.913 1.013 P Pro CCG 0.115 L Leu CTG 0.404 1018 11 8 Cow -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 111.26 74.98 Deleterious 0.03 III.87 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.4489796 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.738 . @ . . . . . 1 0.957 . . 98.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.2889 0.262 0.289 c . . . . . 6.314e-05 . . . 0 4.41e-05 0 0 0 7.123e-05 0 6.061e-05 0 5.65e-05 0 0.0001 0 7.36e-05 0 6.096e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.211 . . exonic exonic exonic . . 0.434 0.0002 . . . 0.24 0.28 182 ENSG00000171681 ATF7IP ATF7IP . . . 0.016 0.128 . . . . . . . Uncertain_significance . 0 . 0.443 . . . . T 0.392 0.017 . . 37 . 0.323 . . 0.059 . . . 0.181 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.320 . . 0 0 0 0 0 0 . 0.899 . . 0.651 . . . . . . 0 0.721 . . . . . 0.108 . 0.452 . HET 0.01 rs147638471 . . . . . . . . . . . . IV.25 0.0 . V.82 III.85 . 0.010000 . . . . 0.000077 . 0.233 . . III.85 0 5.691e-05 0 0 0.0002 0 8.971e-05 0 3.249e-05 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.730 . 2.745 2.745000 . . 0.010000 . . 1.0E-255 0.177 0.238 . 0.562 0.965 . 0.207 . 0.490 2.745 0.598 0.0001 . . rs147638471 rs147638471 1 1538 10 1/0 0,255,255 +. 12 16055926 G GT - STRAP 30796 Serine/threonine kinase receptor associated protein NM_007178.3 1 1907 1053 NP_009109.3 Q9Y3F4 duplication 3'UTR GRCh37 16055927 16055928 Chr12(GRCh37):g.16055927dup *15 *15 NM_007178.3:c.*15dup p.? p.? 10 605986 77 3' 89.9124 8.56694 0.980153 7.42774 89.9124 8.56694 0.980153 7.34016 0 Cryptic Acceptor Strongly Activated 16055932 2.08571 0.000699 71.7167 5.07928 0.128161 78.0453 rs71042275 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999983 0.999955 0.999961 1.000000 1.000000 1.000000 0.999991 0.999945 1.000000 1.000000 235116 22305 25611 8936 15650 23568 115701 18017 5328 235120 22306 25612 8936 15650 23568 115702 18018 5328 0.999966 0.999910 0.999922 1.000000 1.000000 1.000000 0.999983 0.999889 1.000000 117556 11152 12805 4468 7825 11784 57850 9008 2664 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 3 3 8252 4261 12513 0 0.000703565 0.000239693 1 0.999296 0.99976 63 T 255 Pass 1. 1. 1. 0.99 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . UTR_3_PRIME(MODIFIER||||STRAP|mRNA|CODING|NM_007178|NM_007178.ex.10) . . . 1. 1. 1. . . . . . . . . . . 1.00 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000023734 STRAP STRAP . . NM_007178:c.*14_*15insT . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs71042275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1.0000 1 1 0.9999 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs71581962 rs71042275 rs71042275 1 1538 255 1.I 0,0,255 +. 12 22678528 G T - C2CD5 29062 C2 calcium-dependent domain containing 5 NM_001286175.1 -1 4635 3165 NP_001273104.1 substitution intron GRCh37 22678528 22678528 Chr12(GRCh37):g.22678528G>T 445+16 445+16 NM_001286175.1:c.445+16C>A p.? p.? 5 5 16 5' 75.895 9.06592 0.935484 0 75.895 9.06592 0.935484 0 0 transversion C A C>A 0.315 0.367 255 PASS . . . . . . . . . . . . . . . . 0.4074074 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.5630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000111731 C2CD5 C2CD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv482e1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs192384649 12 23689616 G A - SOX5 11201 SRY (sex determining region Y)-box 5 NM_006940.4 -1 4316 2292 NP_008871.3 P35711 substitution intron GRCh37 23689616 23689616 Chr12(GRCh37):g.23689616G>A 1772-13 1772-13 NM_006940.4:c.1772-13C>T p.? p.? 14 13 604975 -13 3' 86.9325 X.25 0.994285 9.41856 89.7577 11.428 0.996256 9.81112 0.0259639 Cryptic Acceptor Weakly Activated 23689603 X.25 0.994285 86.9325 11.428 0.996256 89.7577 rs192384649 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.001000 0.002900 0.001414 0.000250 0.000959 0.000494 0.000053 0.001527 0.002258 0.000039 0.002014 0.002258 391 6 33 5 1 47 285 1 13 276618 24018 34406 10124 18844 30780 126230 25760 6456 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 389 6 33 5 1 47 283 1 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4405 12981 24 1 25 0.0027907 0.000226963 0.00192219 0.0027907 0.000226963 0.00192219 70 transition C T C>T 0.024 0.367 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0008 0.0029 . 0.001 0.001 . . . . . 0.47619048 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0002 0.0019 0.0028 0.0002 0.0019 0.0028 . 0.5431 . . . . . . . . 1.397e-03 . . . 0.0002 0.0013 0.0005 0.0002 0 0.0020 0 0.0017 0.0002 0.0013 0.0005 0.0001 0 0.0018 0 0.0017 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.62 0.44 182 ENSG00000134532 SOX5 SOX5 . . . . . . 96 0.00147747 64976 92 0.00153369 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192384649 . . . . . . . . . . . . . . . . . . . . . . . 0.001922 . . . . . 0.0001 0.0013 0.0010 0.0005 5.807e-05 4.491e-05 0.0020 0.0013 0.0015 0.0005 0.0024 0.0012 0 0 0 0.0041 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs192384649 rs192384649 1 1538 10 1/0 0,255,255 +rs144632372 12 24985659 C T - BCAT1 976 Branched chain amino-acid transaminase 1, cytosolic NM_001178093.1 -1 9268 1197 NP_001171564.1 substitution missense exon GRCh37 24985659 24985659 Chr12(GRCh37):g.24985659C>T 1078 1078 NM_001178093.1:c.1078G>A p.Glu360Lys p.Glu360Lys 9 113520 -3 5' 80.8311 VIII.29 0.951129 0.536137 83.5791 9.78232 0.985246 1.25578 0.0667975 Cryptic Donor Strongly Activated 24985657 VIII.29 0.951129 80.8311 9.78232 0.985246 83.5791 Branched-chain amino acid aminotransferase II rs144632372 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.002300 0.002000 0.000000 0.006000 0.001400 0.004238 0.000983 0.001391 0.003394 0.000000 0.003513 0.006544 0.003930 0.004479 0.006544 1128 23 45 33 0 101 798 100 28 266180 23406 32356 9722 18298 28752 121946 25448 6252 0.000015 0.000000 0.000000 0.000000 0.000000 0.000139 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 1124 23 45 33 0 97 798 100 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8217 3831 12048 55 3 58 0.00664894 0.000782473 0.00479101 0.00664894 0.000782473 0.00479101 111 transition G A G>A 0.000 -0.360 E Glu GAG 0.583 K Lys AAG 0.575 360 12 8 Baker's yeast 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 61.81 0.00 Tolerated 0.14 III.18 good 3.022E-1 0.001543 255 PASS 0.002 0.0032 0.0028 . 0.01 0.0023 0.0024 0.0014 . 0.006 0.002 . . . . . 0.4722222 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.268 . @ . . . . . 1 0.096 . . 36.0 . . . 0.0008 0.0048 0.0066 0.0008 0.0048 0.0066 . -1.1428 -1.077 -1.143 c . . . . . 3.971e-03 . . . 0.0011 0.0046 0.0017 0 0.0052 0.0072 0.0019 0.0032 0.0009 0.0049 0.0018 0 0.0041 0.0075 0.0039 0.0032 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.155 0.0024 . . . 0.25 0.07 182 ENSG00000060982 BCAT1 BCAT1 . . . 0.003 0.096 . 290 0.00446319 64976 278 0.00463441 59986 Likely_benign . 0 . 0.366 . . . . T 0.328 0.013 . . 37 . 0.031 . . 0.355 . . . 0.096 0.225 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.156 . . 0.208 . . . . . . 0 0.074 . . . . . 0.035 . 0.118 . HET 0.65 rs144632372 . . . . . . . 0.003205128205128205 0.0020325203252032522 0.0027624309392265192 0.0 0.006596306068601583 2.1322 9.56E-4 . 5.II 0.397 . 0.950000 . 0.0001 0.002 . 0.004791 . 0.147 . . . 0.0007 0.0042 0.0014 0.0034 0 0.0038 0.0065 0.0042 0.0035 0.0014 0.0045 0 0.0033 0 0.0049 0.0069 0.0061 . . 0.986 . 0.133 0.133000 . . 0.950000 . . 1.0E-255 0.053 0.213 . 0.219 0.964 . 0.203 . 0.140 0.133 -0.039 0.01 . . rs144632372 rs144632372 1 1538 10 1/0 0,255,255 +rs368031265 12 30873793 C T - CAPRIN2 21259 Caprin family member 2 NM_001002259.2 -1 4485 3384 NP_001002259.1 Q6IMN6 substitution synonymous exon GRCh37 30873793 30873793 Chr12(GRCh37):g.30873793C>T 2100 2100 NM_001002259.2:c.2100G>A p.Gln700= p.Gln700Gln 12 610375 -49 5' 79.4649 7.30369 0.934667 1.62203 79.4649 7.30369 0.934667 1.42847 0 Cytoplasmic activation/proliferation-associated protein-1 C term rs368031265 yes no Frequency 1 C 0.000000 0 0.000167 0.000065 0.000030 0.002337 0.000000 0.000000 0.000135 0.000000 0.000183 0.002337 41 1 1 23 0 0 15 0 1 245924 15302 33550 9840 17244 30782 111434 22298 5474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 1 1 23 0 0 15 0 1 0 0 0 0 0 0 0 0 0 PASS 65 Exomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 101 transition G A G>A 1.000 1.255 Q Gln CAG 0.744 Q Gln CAA 0.256 700 255 PASS . . . . . . . . . . . . . . . . 0.5416667 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 48.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . I.85 . . . . . . . . 1.184e-04 . . . 9.651e-05 9.937e-05 0 0 0 0.0002 0 0 0.0001 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.55 182 ENSG00000110888 CAPRIN2 CAPRIN2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs368031265 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832361 0.000154 . . . . IV.46 6.535e-05 0.0002 2.981e-05 0.0023 0 0 0.0001 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs368031265 rs368031265 1 1538 10 1/0 0,255,255 +rs2111769 12 31244809 T C - DDX11 2736 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NM_001257144.1 1 3800 2913 NP_001244073.1 Q96FC9 substitution splice site GRCh37 31244809 31244809 Chr12(GRCh37):g.31244809T>C 1242+4 1242+4 NM_001257144.1:c.1242+4T>C p.? p.? 10 10 601150 4 5' 85.464 6.99123 0.807032 12.0713 84.8523 9.73418 0.931139 14.5305 0.179656 Cryptic Donor Strongly Activated 31244805 6.99123 0.807032 85.464 9.73418 0.931139 84.8523 rs2111769 yes no Frequency 1 C uncertain_significance 0.000000 0 0.000007 0.000042 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000042 2 1 0 0 0 0 0 1 0 275518 23762 34360 10122 18830 30778 125772 25460 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes RCV000202837.1 unknown clinical testing VUS 1 not specified COSM3954644 Lung 0.000418 2391 transition T C T>C 0.008 -1.086 183 PASS . . . . . . . . . . . . . . . . 0.11949685 . . unknown 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000202837.1 not_specified MedGen CN169374 2 . . . 477.0 . . . . . . . . . . -0.3623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.05 182 ENSG00000013573 DDX11 DDX11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2111769 . . . . . . . . . . . . . . . . . . . . 0 0.006 . . . . . . . 0 4.082e-06 0 0 0 4.546e-05 0 0 0 0.0001 3.277e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs2111769 rs2111769 rs2111769 rs2111769 1 1538 10 1/0 0,161,255 +rs200316146 12 31247782 C G - DDX11 2736 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NM_001257144.1 1 3800 2913 NP_001244073.1 Q96FC9 substitution intron GRCh37 31247782 31247782 Chr12(GRCh37):g.31247782C>G 1482+26 1482+26 NM_001257144.1:c.1482+26C>G p.? p.? 14 14 601150 26 5' 72.4424 6.37633 0.736216 7.11345 72.4424 6.37633 0.736216 7.08024 0 rs200316146 yes no Frequency 1 C 0.000000 0 0.000040 0.000348 0.000000 0.000201 0.000000 0.000000 0.000008 0.000000 0.000000 0.000348 11 8 0 2 0 0 1 0 0 271942 22974 34052 9968 18654 30046 124378 25504 6366 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 8 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.651 185 PASS . . . . . . . . . . . . . . . . 0.124242425 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 330.0 . . . . . . . . . . -0.5395 . . . . . . . . 2.920e-04 . . . 0.0022 0.0004 0 0 0 0.0002 0 6.666e-05 0.0016 0.0002 0 0 0 5.867e-05 0 6.704e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.07 182 ENSG00000013573 DDX11 DDX11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200316146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 2.901e-05 0 0.0002 0 0 9.142e-06 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs200316146 rs200316146 1 1538 10 1/0 0,177,255 +rs2909389 12 31250985 G A - DDX11 2736 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NM_001257144.1 1 3800 2913 NP_001244073.1 Q96FC9 substitution intron GRCh37 31250985 31250985 Chr12(GRCh37):g.31250985G>A 1875+54 1875+54 NM_001257144.1:c.1875+54G>A p.? p.? 18 18 601150 54 5' 86.067 X.46 0.994854 8.66907 86.067 X.46 0.994854 8.39135 0 rs2909389 no no 0 G 0.000000 0 0.000134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000069 0.000948 0.000000 0.000948 4 0 0 0 0 0 1 3 0 29802 8484 802 300 1600 0 14512 3166 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.000 -1.893 192 PASS . . . . . . . . . . . . . . . . 0.13913043 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . . . . . . . -0.5182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.07 0.04 182 ENSG00000013573 DDX11 DDX11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2909389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0009 6.891e-05 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs2909389 rs2909389 rs2909389 rs2909389 1 1538 10 1/0 0,224,255 +rs61918669 12 31253544 G A - DDX11 2736 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NM_001257144.1 1 3800 2913 NP_001244073.1 Q96FC9 substitution intron GRCh37 31253544 31253544 Chr12(GRCh37):g.31253544G>A 1876-25 1876-25 NM_001257144.1:c.1876-25G>A p.? p.? 19 18 601150 -25 3' 85.7566 VII.43 0.965344 7.45728 85.7566 VII.43 0.965344 7.91031 0 rs61918669 yes no Frequency 1 G 0.000000 0 0.000348 0.000000 0.000085 0.000000 0.003026 0.000714 0.000101 0.000054 0.000000 0.003026 60 0 2 0 35 15 7 1 0 172580 16038 23520 8046 11566 21008 69146 18584 4672 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 0 2 0 35 15 7 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 200 PASS . . . . . . . . . . . . . . . . 0.15972222 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 288.0 . . . . . . . . . . -0.3182 . . . . . . . . 1.048e-03 . . . 0.0016 0.0023 0 0.0019 0 0.0013 0 0.0041 0.0020 0.0028 0 0 0 0.0017 0 0.0041 . . . . . . UTR3 intronic intronic . . . @ . . . 0.46 0.45 182 ENSG00000013573 DDX11 DDX11 ENST00000539049:c.*1027G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61918669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 8.814e-05 0 0.0027 6.6e-05 9.198e-05 0 0.0007 0 0.0003 0 0 0.0050 0 0.0001 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs61918669 rs61918669 rs61918669 rs61918669 1 1538 10 1/0 0,185,255 +rs79393011 12 32886672 A G - DNM1L 2973 Dynamin 1-like NM_001278464.1 1 4654 2250 NP_001265393.1 substitution synonymous exon GRCh37 32886672 32886672 Chr12(GRCh37):g.32886672A>G 1509 1509 NM_001278464.1:c.1509A>G p.Glu503= p.Glu503Glu 14 603850 24 3' 92.288 X.63 0.994408 8.15766 92.288 X.63 0.994408 8.19337 0 Dynamin central domain rs79393011 yes no Frequency/1000G 2 A benign,likely_benign 0.000000 0 0.005391 0.003000 0.004100 0.000000 0.016900 0.002900 0.008022 0.002413 0.007089 0.008768 0.000053 0.003281 0.011777 0.006825 0.009749 0.011777 2223 58 244 89 1 101 1491 176 63 277108 24034 34418 10150 18868 30782 126606 25788 6462 0.000115 0.000083 0.000058 0.000000 0.000000 0.000065 0.000158 0.000155 0.000310 16 1 1 0 0 1 10 2 1 2191 56 242 89 1 99 1471 172 61 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8507 4398 12905 93 8 101 0.010814 0.00181571 0.00776565 0.010814 0.00181571 0.00776565 209 RCV000124756.3|RCV000404939.1 germline|germline|germline clinical testing|clinical testing|clinical testing Benign|Likely benign 2|1 not specified|Lethal Encephalopathy transition A G A>G 0.937 0.609 E Glu GAA 0.417 E Glu GAG 0.583 503 255 PASS . 0.01 0.01 . 0.02 0.003 0.0054 0.0029 . 0.017 0.0041 . . . . . 0.36585367 . . germline 15 . . 1.2.2016 0 0 0 0 1 0 1 1 1 1 0 0 . . . . . . . . Benign//\%//\@Likely//\@benign Benign|Likely_benign RCV000124756.3|RCV000404939.1 not_specified|Lethal_Encephalopathy MedGen|MedGen CN169374|CN239368 2 . . . 41.0 . . . 0.0018 0.0078 0.011 0.0018 0.0078 0.011 . 0.9705 . . . . . . . . 7.719e-03 . . . 0.0020 0.0082 0.0064 0 0.0058 0.0132 0.0070 0.0041 0.0020 0.0075 0.0063 0 0.0067 0.0108 0.0072 0.0041 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0054 . . . 0.45 0.27 182 ENSG00000087470 DNM1L DNM1L . . . . . . 665 0.0102345 64976 638 0.0106358 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79393011 0.011 0.007 . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000124756.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000124756.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . 0.007766 . . . . . 0.0019 0.0078 0.0071 0.0084 5.798e-05 0.0065 0.0113 0.0099 0.0033 0.0033 0.0098 0.0060 0.0199 0 0.0089 0.0150 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs79393011 rs79393011 1 1538 10 1/0 0,255,255 +rs2405078 12 40875390 C A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution missense exon GRCh37 40875390 40875390 Chr12(GRCh37):g.40875390C>A 6935 6935 ENST00000454784.4:c.6935C>A p.Pro2312Gln p.Pro2312Gln 49 612170 2536 3' 86.6586 8.51688 0.838186 5.0457 86.6586 8.51688 0.838186 5.0457 0 rs2405078 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.402356 0.215600 0.620700 0.399800 0.414500 0.436600 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 8 0 4 0 0 24 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 1590 Exomes transversion C A C>A 0.000 -0.924 P Pro CCA 0.274 Q Gln CAA 0.256 2312 4 1 -1 -1 -3 0.39 0.89 8 10.V 32.5 85 76 C0 353.86 0.00 Not scored 0.0 0.0 210 PASS . . . . . 0.22 0.4 0.44 0.4 0.41 0.62 ENSG00000205592:ENST00000454784:exon49:c.C6935A:p.P2312Q . UNKNOWN . . 0.14367816 . . @ 25 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 174.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cAa|P2879Q|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4041 . . . . . . . . 1.176e-03 . . . 0 0 . . . 0 . . 0 0 . . . . . . nonsynonymous_SNV . unknown . . . exonic intergenic exonic . . . 0.4024 . . . 0.49 0.43 182 ENSG00000205592 . MUC19 . dist\x3d62355\x3bdist\x3d63462 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2405078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . . 0 0 . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . rs2405078 rs2405078 rs2405078 rs2405078 1 1538 10 1/0 0,233,255 +. 12 40879693 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879693 40879693 Chr12(GRCh37):g.40879693T>C *345 *345 ENST00000454784.4:c.*345T>C p.? p.? 49 612170 -5438 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.006433 0.015311 0.003623 0.000000 0.000000 0.000000 0.004628 0.001427 0.009868 0.015311 61 32 1 0 0 0 23 2 3 9482 2090 276 136 304 0 4970 1402 304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 32 1 0 0 0 23 2 3 0 0 0 0 0 0 0 0 0 RF 176 Genomes transition T C T>C 0.000 -0.198 172 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13243762 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 521.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N4313|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*345T>C dist\x3d66658\x3bdist\x3d59159 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0153 0.0064 0.0036 0 0 0.0014 0.0046 0.0099 . . . . . . . . . . . 1.0E-172 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,158,255 +. 12 40879910 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879910 40879910 Chr12(GRCh37):g.40879910A>G *562 *562 ENST00000454784.4:c.*562A>G p.? p.? 49 612170 -5221 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs933676860 yes no Frequency 1 A 0.000000 0 0.000958 0.003406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003406 15 15 0 0 0 0 0 0 0 15662 4404 252 272 580 0 8852 936 366 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 15 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 111 Genomes transition A G A>G 0.000 0.609 193 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14123377 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 616.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I4386V|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*562A>G dist\x3d66875\x3bdist\x3d58942 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0010 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,151,255 +. 12 40879913 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879913 40879913 Chr12(GRCh37):g.40879913A>G *565 *565 ENST00000454784.4:c.*565A>G p.? p.? 49 612170 -5218 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Acceptor Strongly Activated 40879919 0.010259 0.255684 0.012798 60.1917 0.000130 0.000465 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000465 2 2 0 0 0 0 0 0 0 15390 4300 258 274 564 0 8686 956 352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 116 Genomes transition A G A>G 0.000 -1.570 191 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13689482 . . @ 82 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 599.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S4387G|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*565A>G dist\x3d66878\x3bdist\x3d58939 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,152,255 +. 12 40879918 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879918 40879918 Chr12(GRCh37):g.40879918G>A *570 *570 ENST00000454784.4:c.*570G>A p.? p.? 49 612170 -5213 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40879919 0.500735 0.01313 68.3453 V.33 0.532179 77.3061 transition G A G>A 0.000 -1.489 192 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14840989 . . @ 84 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 566.0 . . SYNONYMOUS_STOP(LOW|SILENT|taG/taA|*4388|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*570G>A dist\x3d66883\x3bdist\x3d58934 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,156,255 +. 12 40879919 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879919 40879919 Chr12(GRCh37):g.40879919G>A *571 *571 ENST00000454784.4:c.*571G>A p.? p.? 49 612170 -5212 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 transition G A G>A 0.000 -0.360 200 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15904936 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 547.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G4389S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*571G>A dist\x3d66884\x3bdist\x3d58933 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,158,255 +rs77714081 12 40879936 T G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879936 40879936 Chr12(GRCh37):g.40879936T>G *588 *588 ENST00000454784.4:c.*588T>G p.? p.? 49 612170 -5195 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs77714081 no no 0 G 0.000000 0 0.000915 0.000923 0.020548 0.000000 0.004098 0.000000 0.000156 0.004717 0.000000 0.020548 9 2 3 0 1 0 1 2 0 9840 2168 146 232 244 0 6430 424 196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 3 0 1 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 190 Genomes transversion T G T>G 0.000 -3.346 228 PASS . . . . . . . . . . . . . UNKNOWN . . 0.23606557 . . @ 144 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 610.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgT/tgG|C4394W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.45 0.35 182 ENSG00000205592 . MUC19 ENST00000454784:c.*588T>G dist\x3d66901\x3bdist\x3d58916 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77714081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0009 0.0205 0 0.0041 0.0047 0.0002 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . rs77714081 rs77714081 1 1538 10 1/0 0,161,238 +rs78154920 12 40879937 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40879937 40879937 Chr12(GRCh37):g.40879937A>G *589 *589 ENST00000454784.4:c.*589A>G p.? p.? 49 612170 -5194 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Acceptor Strongly Activated 40879945 0.000627 70.9025 0.0357628 0.001955 70.917 rs78154920 no no 0 A 0.000000 0 0.000613 0.000707 0.012500 0.000000 0.002924 0.000000 0.000000 0.004202 0.000000 0.012500 7 2 2 0 1 0 0 2 0 11412 2830 160 244 342 0 7130 476 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 2 0 1 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 164 Genomes transition A G A>G 0.000 -0.360 218 PASS . . . . . . . . . . . . . UNKNOWN . . 0.2076412 . . @ 125 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 602.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T4395A|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.47 0.36 182 ENSG00000205592 . MUC19 ENST00000454784:c.*589A>G dist\x3d66902\x3bdist\x3d58915 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78154920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0006 0.0125 0 0.0029 0.0042 0 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs78154920 rs78154920 1 1538 10 1/0 0,159,248 +rs370171939 12 40880427 G C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40880427 40880427 Chr12(GRCh37):g.40880427G>C *1079 *1079 ENST00000454784.4:c.*1079G>C p.? p.? 49 612170 -4704 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40880421 2.57415 0.097343 68.3867 3.09325 0.115663 67.6269 rs370171939 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5162 2508 84 28 292 0 1572 546 132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 354 Genomes transversion G C G>C 0.000 -0.117 174 PASS . . . . . . . . . . . . . UNKNOWN . . 0.10031847 . . @ 63 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 628.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S4558T|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1079G>C dist\x3d67392\x3bdist\x3d58425 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs370171939 0.076 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . 0.076 . . rs370171939 rs370171939 1 1538 10 1/0 0,147,255 +rs374475412 12 40880440 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40880440 40880440 Chr12(GRCh37):g.40880440A>G *1092 *1092 ENST00000454784.4:c.*1092A>G p.? p.? 49 612170 -4691 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs374475412 yes no Frequency/1000G 2 0.000000 0 0.469249 0.386500 0.546000 0.422600 0.508000 0.530300 0.001078 0.002618 0.006579 0.000000 0.000000 0.000000 0.000275 0.000000 0.000000 0.006579 8 6 1 0 0 0 1 0 0 7422 2292 152 104 310 0 3634 748 182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 6 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 251 Genomes transition A G A>G 0.000 -3.265 159 PASS . . . . . 0.39 0.47 0.53 0.42 0.51 0.55 . . UNKNOWN . . 0.11130137 . . @ 65 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 584.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K4562|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.4692 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1092A>G dist\x3d67405\x3bdist\x3d58412 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs374475412 0.098 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0011 0.0066 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-159 . . . . . . . . . . . 0.098 . . rs374475412 rs374475412 1 1538 10 1/0 0,152,255 +rs377712357 12 40880446 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40880446 40880446 Chr12(GRCh37):g.40880446T>C *1098 *1098 ENST00000454784.4:c.*1098T>C p.? p.? 49 612170 -4685 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs377712357 yes no Frequency/1000G 2 0.000000 0 0.469249 0.386500 0.546000 0.422600 0.508000 0.530300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7214 2238 142 100 294 0 3562 704 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 264 Genomes transition T C T>C 0.000 -0.198 180 PASS . . . . . 0.39 0.47 0.53 0.42 0.51 0.55 . . UNKNOWN . . 0.112396695 . . @ 68 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 605.0 . . SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T4564|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.4692 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1098T>C dist\x3d67411\x3bdist\x3d58406 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs377712357 0.087 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . 0.087 . . rs377712357 rs377712357 1 1538 10 1/0 0,150,255 +rs112864659 12 40880465 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40880465 40880465 Chr12(GRCh37):g.40880465A>G *1117 *1117 ENST00000454784.4:c.*1117A>G p.? p.? 49 612170 -4666 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs112864659 no no 0 0.000000 0 0.001020 0.000498 0.000000 0.000000 0.000000 0.000000 0.001714 0.000000 0.000000 0.001714 7 1 0 0 0 0 6 0 0 6864 2010 140 100 256 0 3500 684 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 281 Genomes transition A G A>G 0.000 -2.700 190 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13420622 . . @ 82 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 611.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N4571D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.8194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.45 0.34 182 ENSG00000205592 . MUC19 ENST00000454784:c.*1117A>G dist\x3d67430\x3bdist\x3d58387 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112864659 0.087 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0010 0 0 0 0 0.0017 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . 0.087 . . rs112864659 rs112864659 1 1538 10 1/0 0,151,255 +rs77697327 12 40881029 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881029 40881029 Chr12(GRCh37):g.40881029A>G *1681 *1681 ENST00000454784.4:c.*1681A>G p.? p.? 49 612170 -4102 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs77697327 no no 0 0.000000 0 0.003847 0.004364 0.003704 0.000000 0.009412 0.000000 0.003539 0.002250 0.003953 0.009412 70 21 2 0 8 0 32 5 2 18194 4812 540 222 850 0 9042 2222 506 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 21 2 0 8 0 32 5 2 0 0 0 0 0 0 0 0 0 RF 91 Genomes transition A G A>G 0.000 -1.489 179 PASS . . . . . . . . . . . . . UNKNOWN . . 0.11155379 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 502.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N4759D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.36 0.35 182 ENSG00000205592 . MUC19 ENST00000454784:c.*1681A>G dist\x3d67994\x3bdist\x3d57823 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77697327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0038 0.0037 0 0.0094 0.0023 0.0035 0.0040 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs77697327 rs77697327 1 1538 10 1/0 0,157,255 +rs78175342 12 40881072 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881072 40881072 Chr12(GRCh37):g.40881072A>G *1724 *1724 ENST00000454784.4:c.*1724A>G p.? p.? 49 612170 -4059 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs78175342 no no 0 0.000000 0 0.006103 0.005659 0.001845 0.008850 0.013126 0.000000 0.006161 0.004575 0.007663 0.013126 112 28 1 2 11 0 56 10 4 18352 4948 542 226 838 0 9090 2186 522 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 28 1 2 11 0 56 10 4 0 0 0 0 0 0 0 0 0 RF 88 Genomes transition A G A>G 0.000 -0.440 187 PASS . . . . . . . . . . . . . UNKNOWN . . 0.12683824 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 544.0 . . STOP_LOST(HIGH|MISSENSE|tAg/tGg|*4773W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.38 0.31 182 ENSG00000205592 . MUC19 ENST00000454784:c.*1724A>G dist\x3d68037\x3bdist\x3d57780 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs78175342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0057 0.0061 0.0018 0.0088 0.0131 0.0046 0.0062 0.0077 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs78175342 rs78175342 1 1538 10 1/0 0,155,255 +rs78593021 12 40881086 G T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881086 40881086 Chr12(GRCh37):g.40881086G>T *1738 *1738 ENST00000454784.4:c.*1738G>T p.? p.? 49 612170 -4045 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Acceptor Strongly Activated 40881094 2.00855 0.244052 III.51 0.719962 rs78593021 no no 0 0.000000 0 0.003068 0.002156 0.001520 0.004167 0.004926 0.000000 0.003848 0.001344 0.003916 0.004926 76 15 1 1 6 0 46 4 3 24770 6958 658 240 1218 0 11954 2976 766 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 15 1 1 6 0 46 4 3 0 0 0 0 0 0 0 0 0 RF 65 Genomes transversion G T G>T 0.000 -1.086 179 PASS . . . . . . . . . . . . . UNKNOWN . . 0.110074624 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 536.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G4778C|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.45 0.31 182 ENSG00000205592 . MUC19 ENST00000454784:c.*1738G>T dist\x3d68051\x3bdist\x3d57766 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs78593021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0031 0.0015 0.0042 0.0049 0.0013 0.0038 0.0039 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs78593021 rs78593021 1 1538 10 1/0 0,155,255 +rs375208541 12 40881128 C A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881128 40881128 Chr12(GRCh37):g.40881128C>A *1780 *1780 ENST00000454784.4:c.*1780C>A p.? p.? 49 612170 -4003 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs375208541 no no 0 0.000000 0 0.003877 0.003987 0.002092 0.004065 0.002427 0.000000 0.004445 0.001779 0.005282 0.004445 73 20 1 1 2 0 42 4 3 18828 5016 478 246 824 0 9448 2248 568 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 73 20 1 1 2 0 42 4 3 0 0 0 0 0 0 0 0 0 RF 86 Genomes transversion C A C>A 0.000 -2.297 183 PASS . . . . . . . . . . . . . UNKNOWN . . 0.116071425 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 560.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Aac|H4792N|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1780C>A dist\x3d68093\x3bdist\x3d57724 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs375208541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0039 0.0021 0.0041 0.0024 0.0018 0.0044 0.0053 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs375208541 rs375208541 1 1538 10 1/0 0,155,255 +. 12 40881287 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881287 40881287 Chr12(GRCh37):g.40881287A>G *1939 *1939 ENST00000454784.4:c.*1939A>G p.? p.? 49 612170 -3844 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.001923 0.002037 0.001401 0.000000 0.003682 0.000000 0.002202 0.000000 0.001199 0.003682 53 16 1 0 5 0 30 0 1 27556 7854 714 294 1358 0 13626 2876 834 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 16 1 0 5 0 30 0 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition A G A>G 0.000 -0.682 198 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15384616 . . @ 92 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 598.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I4845V|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1939A>G dist\x3d68252\x3bdist\x3d57565 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0019 0.0014 0 0.0037 0 0.0022 0.0012 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,154,251 +. 12 40881342 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40881342 40881342 Chr12(GRCh37):g.40881342C>G *1994 *1994 ENST00000454784.4:c.*1994C>G p.? p.? 49 612170 -3789 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22636 6350 628 274 1130 0 11228 2372 654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 71 Genomes transversion C G C>G 0.000 -0.602 178 PASS . . . . . . . . . . . . . UNKNOWN . . 0.10928962 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 549.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S4863W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.3981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*1994C>G dist\x3d68307\x3bdist\x3d57510 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,154,255 +. 12 40882444 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882444 40882444 Chr12(GRCh37):g.40882444G>A *3096 *3096 ENST00000454784.4:c.*3096G>A p.? p.? 49 612170 -2687 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 transition G A G>A 0.000 -1.005 191 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13725491 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 255.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R5230|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3096G>A dist\x3d69409\x3bdist\x3d56408 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,189,255 +rs879525667 12 40882447 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882447 40882447 Chr12(GRCh37):g.40882447T>C *3099 *3099 ENST00000454784.4:c.*3099T>C p.? p.? 49 612170 -2684 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40882449 0.001715 63.4988 3.09325 0.013508 67.6269 rs879525667 no no 0 T 0.000000 0 0.001659 0.000852 0.003788 0.000000 0.004115 0.000000 0.000792 0.007477 0.000000 0.007477 18 3 1 0 2 0 4 8 0 10850 3522 264 154 486 0 5050 1070 304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 3 1 0 2 0 4 8 0 0 0 0 0 0 0 0 0 0 RF 97 Genomes transition T C T>C 0.000 -3.023 204 PASS . . . . . . . . . . . . . UNKNOWN . . 0.16901408 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 213.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D5231|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3099T>C dist\x3d69412\x3bdist\x3d56405 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0017 0.0038 0 0.0041 0.0075 0.0008 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,199,255 +. 12 40882449 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882449 40882449 Chr12(GRCh37):g.40882449G>A *3101 *3101 ENST00000454784.4:c.*3101G>A p.? p.? 49 612170 -2682 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.001318 0.000659 0.003425 0.000000 0.003165 0.000000 0.000634 0.006079 0.000000 0.006079 18 3 1 0 2 0 4 8 0 13656 4552 292 180 632 0 6308 1316 376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 3 1 0 2 0 4 8 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transition G A G>A 0.000 -0.763 199 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15625 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 224.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R5232K|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3101G>A dist\x3d69414\x3bdist\x3d56403 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0013 0.0034 0 0.0032 0.0061 0.0006 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs55798248 12 40882457 C A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882457 40882457 Chr12(GRCh37):g.40882457C>A *3109 *3109 ENST00000454784.4:c.*3109C>A p.? p.? 49 612170 -2674 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs55798248 no no 0 C 0.000000 0 0.003372 0.001561 0.009615 0.000000 0.004587 0.000000 0.002462 0.012311 0.000000 0.012311 33 5 2 0 2 0 11 13 0 9786 3204 208 132 436 0 4468 1056 282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 5 2 0 2 0 11 13 0 0 0 0 0 0 0 0 0 0 RF 109 Genomes transversion C A C>A 0.000 -1.409 216 PASS . . . . . . . . . . . . . UNKNOWN . . 0.20220588 . . @ 55 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 272.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Atc|L5235I|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.24 0.27 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3109C>A dist\x3d69422\x3bdist\x3d56395 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55798248 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0034 0.0096 0 0.0046 0.0123 0.0025 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.022 . . rs55798248 rs55798248 1 1538 10 1/0 0,192,255 +. 12 40882466 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882466 40882466 Chr12(GRCh37):g.40882466G>A *3118 *3118 ENST00000454784.4:c.*3118G>A p.? p.? 49 612170 -2665 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 transition G A G>A 0.000 -0.924 220 PASS . . . . . . . . . . . . . UNKNOWN . . 0.21160409 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 293.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G5238S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3118G>A dist\x3d69431\x3bdist\x3d56386 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,189,253 +rs373068239 12 40882513 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882513 40882513 Chr12(GRCh37):g.40882513C>G *3165 *3165 ENST00000454784.4:c.*3165C>G p.? p.? 49 612170 -2618 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs373068239 no no 0 G 0.000000 0 0.001857 0.002443 0.003030 0.000000 0.001639 0.000000 0.001402 0.003012 0.000000 0.003030 24 9 1 0 1 0 9 4 0 12922 3684 330 162 610 0 6420 1328 388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 9 1 0 1 0 9 4 0 0 0 0 0 0 0 0 0 0 RF 93 Genomes transversion C G C>G 0.000 -4.556 254 PASS . . . . . . . . . . . . . UNKNOWN . . 0.31746033 . . @ 100 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 315.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgC/tgG|C5253W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.3187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.2 0.28 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3165C>G dist\x3d69478\x3bdist\x3d56339 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373068239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0019 0.0030 0 0.0016 0.0030 0.0014 0 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . rs71203639 rs71203639 rs373068239 1 1538 10 1/0 0,196,241 +rs796784726 12 40882528 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882528 40882528 Chr12(GRCh37):g.40882528C>T *3180 *3180 ENST00000454784.4:c.*3180C>T p.? p.? 49 612170 -2603 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Weakly Activated 40882526 63.7013 1.06116 0.282934 66.7844 0.002201 0.002044 0.007194 0.000000 0.003472 0.000000 0.001887 0.003509 0.000000 0.007194 27 7 2 0 2 0 12 4 0 12268 3424 278 172 576 0 6360 1140 318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 7 2 0 2 0 12 4 0 0 0 0 0 0 0 0 0 0 RF 103 Genomes transition C T C>T 0.000 -0.037 242 PASS . . . . . . . . . . . . . UNKNOWN . . 0.3280255 . . @ 103 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 314.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S5258|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3180C>T dist\x3d69493\x3bdist\x3d56324 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0022 0.0072 0 0.0035 0.0035 0.0019 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,243 +rs571760866 12 40882529 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882529 40882529 Chr12(GRCh37):g.40882529A>G *3181 *3181 ENST00000454784.4:c.*3181A>G p.? p.? 49 612170 -2602 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs571760866 yes no Frequency/1000G 2 G 0.000998 C 5 0.002775 0.002853 0.008065 0.000000 0.004292 0.000000 0.002189 0.004970 0.000000 0.008065 29 8 2 0 2 0 12 5 0 10450 2804 248 160 466 0 5482 1006 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 8 2 0 2 0 12 5 0 0 0 0 0 0 0 0 0 0 RF 122 Genomes transition A G A>G 0.000 -3.184 255 PASS . . . . . . . . . . . . . UNKNOWN . . 0.34201956 . . @ 105 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 307.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N5259D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0010 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3181A>G dist\x3d69494\x3bdist\x3d56323 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0028 0.0081 0 0.0043 0.0050 0.0022 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,199,241 +. 12 40882556 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882556 40882556 Chr12(GRCh37):g.40882556A>G *3208 *3208 ENST00000454784.4:c.*3208A>G p.? p.? 49 612170 -2575 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.001801 0.002057 0.011811 0.000000 0.001689 0.000000 0.001318 0.003012 0.000000 0.011811 26 9 3 0 1 0 10 3 0 14434 4376 254 226 592 0 7590 996 400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 9 3 0 1 0 10 3 0 0 0 0 0 0 0 0 0 0 RF 101 Genomes transition A G A>G 0.000 0.044 154 PASS . . . . . . . . . . . . . UNKNOWN . . 0.29177058 . . @ 117 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 401.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|S5268G|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3208A>G dist\x3d69521\x3bdist\x3d56296 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0018 0.0118 0 0.0017 0.0030 0.0013 0 . . . . . . . . . . . 1.0E-154 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,193,244 +. 12 40882585 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882585 40882585 Chr12(GRCh37):g.40882585G>A *3237 *3237 ENST00000454784.4:c.*3237G>A p.? p.? 49 612170 -2546 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40882586 0.003669 65.5973 III.22 0.321503 74.5581 0.000362 0.000842 0.000000 0.000000 0.001359 0.000000 0.000118 0.000000 0.000000 0.001359 6 4 0 0 1 0 1 0 0 16560 4750 310 230 736 0 8458 1620 456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 4 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 92 Genomes transition G A G>A 0.000 -5.444 184 PASS . . . . . . . . . . . . . UNKNOWN . . 0.22463769 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 0 . . . 414.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W5277*|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.0747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3237G>A dist\x3d69550\x3bdist\x3d56267 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0004 0 0 0.0014 0 0.0001 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +. 12 40882586 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882586 40882586 Chr12(GRCh37):g.40882586G>A *3238 *3238 ENST00000454784.4:c.*3238G>A p.? p.? 49 612170 -2545 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000961 0.001326 0.000000 0.000000 0.001730 0.000000 0.001012 0.000000 0.000000 0.001730 13 5 0 0 1 0 7 0 0 13534 3770 256 196 578 0 6920 1416 398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 5 0 0 1 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 112 Genomes transition G A G>A 0.000 -0.682 184 PASS . . . . . . . . . . . . . UNKNOWN . . 0.22166246 . . @ 88 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 397.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G5278S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3238G>A dist\x3d69551\x3bdist\x3d56266 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0010 0 0 0.0017 0 0.0010 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,181,255 +. 12 40882597 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882597 40882597 Chr12(GRCh37):g.40882597C>T *3249 *3249 ENST00000454784.4:c.*3249C>T p.? p.? 49 612170 -2534 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000279 0.000456 0.000000 0.000000 0.000963 0.000000 0.000000 0.000929 0.000000 0.000963 6 3 0 0 1 0 0 2 0 21514 6582 494 254 1038 0 10354 2154 638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 1 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 72 Genomes transition C T C>T 0.000 0.125 208 PASS . . . . . . . . . . . . . UNKNOWN . . 0.19148937 . . @ 81 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 423.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D5281|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3249C>T dist\x3d69562\x3bdist\x3d56255 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0.0010 0.0009 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,173,255 +. 12 40882615 G T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882615 40882615 Chr12(GRCh37):g.40882615G>T *3267 *3267 ENST00000454784.4:c.*3267G>T p.? p.? 49 612170 -2516 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000049 0.000160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000160 1 1 0 0 0 0 0 0 0 20212 6246 444 248 938 0 9838 1920 578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 75 Genomes transversion G T G>T 0.000 -4.395 189 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14836796 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 337.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W5287C|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3267G>T dist\x3d69580\x3bdist\x3d56237 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 4.948e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,179,255 +. 12 40882617 G C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882617 40882617 Chr12(GRCh37):g.40882617G>C *3269 *3269 ENST00000454784.4:c.*3269G>C p.? p.? 49 612170 -2514 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000044 0.000143 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000143 1 1 0 0 0 0 0 0 0 22844 6972 540 254 1118 0 10936 2330 694 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 66 Genomes transversion G C G>C 0.000 -0.360 191 PASS . . . . . . . . . . . . . UNKNOWN . . 0.13714285 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 350.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gCt|G5288A|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3269G>C dist\x3d69582\x3bdist\x3d56235 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.378e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,176,255 +. 12 40882623 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882623 40882623 Chr12(GRCh37):g.40882623G>A *3275 *3275 ENST00000454784.4:c.*3275G>A p.? p.? 49 612170 -2508 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23100 7006 544 256 1126 0 11074 2392 702 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 65 Genomes transition G A G>A 0.016 0.367 183 PASS . . . . . . . . . . . . . UNKNOWN . . 0.119186044 . . @ 41 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 344.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R5290K|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3275G>A dist\x3d69588\x3bdist\x3d56229 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +. 12 40882630 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882630 40882630 Chr12(GRCh37):g.40882630T>C *3282 *3282 ENST00000454784.4:c.*3282T>C p.? p.? 49 612170 -2501 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000212 0.000484 0.000000 0.000000 0.000000 0.000000 0.000140 0.000000 0.000000 0.000484 3 2 0 0 0 0 1 0 0 14122 4130 370 206 576 0 7126 1340 374 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 102 Genomes transition T C T>C 0.000 -1.893 192 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15679443 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 287.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N5292|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.8373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3282T>C dist\x3d69595\x3bdist\x3d56222 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0 0 0 0 0.0001 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,187,255 +. 12 40882634 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882634 40882634 Chr12(GRCh37):g.40882634A>G *3286 *3286 ENST00000454784.4:c.*3286A>G p.? p.? 49 612170 -2497 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000045 0.000147 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000147 1 1 0 0 0 0 0 0 0 22170 6792 508 256 1042 0 10652 2256 664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 65 Genomes transition A G A>G 0.000 -0.198 186 PASS . . . . . . . . . . . . . UNKNOWN . . 0.1260997 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 341.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I5294V|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3286A>G dist\x3d69599\x3bdist\x3d56218 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.511e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,176,255 +. 12 40882635 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882635 40882635 Chr12(GRCh37):g.40882635T>C *3287 *3287 ENST00000454784.4:c.*3287T>C p.? p.? 49 612170 -2496 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000136 0.000462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000462 2 2 0 0 0 0 0 0 0 14708 4328 362 216 604 0 7348 1454 396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 96 Genomes transition T C T>C 0.000 -1.893 195 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14569536 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 302.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I5294T|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3287T>C dist\x3d69600\x3bdist\x3d56217 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs201318123 12 40882766 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882766 40882766 Chr12(GRCh37):g.40882766G>A *3418 *3418 ENST00000454784.4:c.*3418G>A p.? p.? 49 612170 -2365 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs201318123 no no 0 T 0.000000 0 0.000958 0.002590 0.001742 0.000000 0.000000 0.000000 0.000202 0.000000 0.000000 0.002590 20 17 1 0 0 0 2 0 0 20880 6564 574 232 1036 0 9902 1970 602 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 17 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition G A G>A 0.000 -5.363 204 PASS . . . . . . . . . . . . . UNKNOWN . . 0.16987179 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 312.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D5338N|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.3297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.36 0.33 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3418G>A dist\x3d69731\x3bdist\x3d56086 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201318123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0010 0.0017 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs201318123 rs201318123 1 1538 10 1/0 0,183,255 +. 12 40882856 G T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40882856 40882856 Chr12(GRCh37):g.40882856G>T *3508 *3508 ENST00000454784.4:c.*3508G>T p.? p.? 49 612170 -2275 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.004121 0.003411 0.008333 0.000000 0.002722 0.000000 0.003731 0.008310 0.003226 0.008333 88 22 5 0 3 0 38 18 2 21356 6450 600 232 1102 0 10186 2166 620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 88 22 5 0 3 0 38 18 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion G T G>T 0.000 -1.732 194 PASS . . . . . . . . . . . . . UNKNOWN . . 0.14385965 . . @ 41 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 285.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G5368C|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*3508G>T dist\x3d69821\x3bdist\x3d55996 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0041 0.0083 0 0.0027 0.0083 0.0037 0.0032 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,185,255 +rs61916093 12 40883195 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883195 40883195 Chr12(GRCh37):g.40883195C>G *3847 *3847 ENST00000454784.4:c.*3847C>G p.? p.? 49 612170 -1936 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs61916093 no no 0 C 0.000000 0 0.001024 0.001569 0.000000 0.000000 0.005495 0.000000 0.000616 0.002538 0.000000 0.005495 8 3 0 0 1 0 3 1 0 7814 1912 106 174 182 0 4872 394 174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 3 0 0 1 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 161 Genomes transversion C G C>G 0.000 -5.041 238 PASS . . . . . . . . . . . . . UNKNOWN . . 0.26490065 . . @ 80 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 302.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Gac|H5481D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.3418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.25 0.29 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3847C>G dist\x3d70160\x3bdist\x3d55657 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61916093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0010 0 0 0.0055 0.0025 0.0006 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs61916093 rs61916093 rs61916093 rs61916093 1 1538 10 1/0 0,193,244 +rs61916094 12 40883200 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883200 40883200 Chr12(GRCh37):g.40883200C>T *3852 *3852 ENST00000454784.4:c.*3852C>T p.? p.? 49 612170 -1931 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs61916094 yes no Frequency/1000G 2 T 0.000000 0 transition C T C>T 0.000 -0.117 134 PASS . . . . . . . . . . . . . UNKNOWN . . 0.18987341 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 316.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N5482|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0008 . . . 0.26 0.26 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3852C>T dist\x3d70165\x3bdist\x3d55652 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61916094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-134 . . . . . . . . . . . . rs61916094 rs61916094 rs61916094 rs61916094 1 1538 10 1/0 0,190,255 +rs61916095 12 40883205 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883205 40883205 Chr12(GRCh37):g.40883205C>T *3857 *3857 ENST00000454784.4:c.*3857C>T p.? p.? 49 612170 -1926 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs61916095 no no 0 C 0.000000 0 transition C T C>T 0.000 -1.328 215 PASS . . . . . . . . . . . . . UNKNOWN . . 0.1969697 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 330.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T5484I|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.27 0.31 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3857C>T dist\x3d70170\x3bdist\x3d55647 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61916095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs61916095 rs61916095 rs61916095 rs61916095 1 1538 10 1/0 0,183,254 +rs61916096 12 40883208 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883208 40883208 Chr12(GRCh37):g.40883208T>C *3860 *3860 ENST00000454784.4:c.*3860T>C p.? p.? 49 612170 -1923 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs61916096 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.117 215 PASS . . . . . . . . . . . . . UNKNOWN . . 0.19879518 . . @ 66 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 332.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I5485T|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.29 0.35 182 ENSG00000205592 . MUC19 ENST00000454784:c.*3860T>C dist\x3d70173\x3bdist\x3d55644 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61916096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . rs61916096 rs61916096 rs61916096 rs61916096 1 1538 10 1/0 0,183,255 +. 12 40883416 A T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883416 40883416 Chr12(GRCh37):g.40883416A>T *4068 *4068 ENST00000454784.4:c.*4068A>T p.? p.? 49 612170 -1715 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.003261 0.002115 0.008621 0.000000 0.005988 0.000000 0.003136 0.003145 0.011013 0.008621 51 10 3 0 4 0 24 5 5 15638 4728 348 196 668 0 7654 1590 454 0.019608 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.200000 0.000000 1 0 0 0 0 0 0 1 0 49 10 3 0 4 0 24 3 5 0 0 0 0 0 0 0 0 0 RF 69 Genomes transversion A T A>T 0.000 -3.104 217 PASS . . . . . . . . . . . . . UNKNOWN . . 0.20462047 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 303.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acT|T5554|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.1455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4068A>T dist\x3d70381\x3bdist\x3d55436 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0033 0.0086 0 0.0060 0.0031 0.0031 0.0110 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,189,255 +rs568304736 12 40883425 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883425 40883425 Chr12(GRCh37):g.40883425C>G *4077 *4077 ENST00000454784.4:c.*4077C>G p.? p.? 49 612170 -1706 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.001464 0.001346 0.004831 0.000000 0.001319 0.000000 0.001222 0.001667 0.004000 0.004831 25 7 2 0 1 0 10 3 2 17074 5200 414 218 758 0 8184 1800 500 0.040000 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 23 5 2 0 1 0 10 3 2 0 0 0 0 0 0 0 0 0 RF 60 Genomes transversion C G C>G 0.000 -3.104 199 PASS . . . . . . . . . . . . . UNKNOWN . . 0.15636364 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 275.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgC/tgG|C5557W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -1.0619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0004 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4077C>G dist\x3d70390\x3bdist\x3d55427 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0015 0.0048 0 0.0013 0.0017 0.0012 0.004 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,188,255 +rs536727047 12 40883605 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883605 40883605 Chr12(GRCh37):g.40883605G>A *4257 *4257 ENST00000454784.4:c.*4257G>A p.? p.? 49 612170 -1526 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Strongly Activated 40883606 0.003669 65.5973 III.22 0.321503 74.5581 rs536727047 yes no Frequency/1000G 2 T 0.000000 0 0.037740 0.014400 0.112500 0.020800 0.031800 0.010100 transition G A G>A 0.000 -1.570 176 PASS . . . . . 0.014 0.038 0.01 0.021 0.032 0.11 . . UNKNOWN . . 0.105421685 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 0 . . . 332.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W5617*|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0377 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4257G>A dist\x3d70570\x3bdist\x3d55247 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs536727047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,175,255 +rs80096670 12 40883606 G A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883606 40883606 Chr12(GRCh37):g.40883606G>A *4258 *4258 ENST00000454784.4:c.*4258G>A p.? p.? 49 612170 -1525 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs80096670 yes no Frequency/1000G 2 G 0.000000 0 0.037740 0.014400 0.112500 0.020800 0.031800 0.010100 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000162 0.000000 0.000000 0.000162 1 0 0 0 0 0 1 0 0 13902 5074 342 164 736 0 6184 1038 364 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 83 Genomes transition G A G>A 0.000 -1.893 186 PASS . . . . . 0.014 0.038 0.01 0.021 0.032 0.11 . . UNKNOWN . . 0.14067279 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 327.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G5618S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0377 . . . 0.32 0.33 182 ENSG00000205592 . MUC19 ENST00000454784:c.*4258G>A dist\x3d70571\x3bdist\x3d55246 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs80096670 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.193e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.011 . . rs80096670 rs80096670 1 1538 10 1/0 0,179,255 +rs565283264 12 40883619 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883619 40883619 Chr12(GRCh37):g.40883619A>G *4271 *4271 ENST00000454784.4:c.*4271A>G p.? p.? 49 612170 -1512 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs565283264 yes no Frequency/1000G 2 A 0.000000 0 0.082268 0.044600 0.189200 0.053600 0.084500 0.041800 transition A G A>G 0.000 0.367 201 PASS . . . . . 0.045 0.082 0.042 0.054 0.085 0.19 . . UNKNOWN . . 0.16081871 . . @ 55 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 342.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N5622S|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0823 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4271A>G dist\x3d70584\x3bdist\x3d55233 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs565283264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,178,255 +rs577573520 12 40883620 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883620 40883620 Chr12(GRCh37):g.40883620T>C *4272 *4272 ENST00000454784.4:c.*4272T>C p.? p.? 49 612170 -1511 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs577573520 yes no Frequency/1000G 2 A 0.082268 C 412 0.082268 0.044600 0.189200 0.053600 0.084500 0.041800 0.001182 0.001433 0.000000 0.000000 0.000000 0.000000 0.001168 0.000000 0.006667 0.001433 12 5 0 0 0 0 5 0 2 10152 3490 408 110 616 0 4282 946 300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 0 0 0 0 5 0 2 0 0 0 0 0 0 0 0 0 RF 117 Genomes transition T C T>C 0.000 0.205 199 PASS . . . . . 0.045 0.082 0.042 0.054 0.085 0.19 . . UNKNOWN . . 0.18789808 . . @ 59 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 314.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N5622|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . 0.0823 . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4272T>C dist\x3d70585\x3bdist\x3d55232 . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs577573520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0012 0 0 0 0 0.0012 0.0067 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,185,254 +. 12 40883625 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883625 40883625 Chr12(GRCh37):g.40883625T>C *4277 *4277 ENST00000454784.4:c.*4277T>C p.? p.? 49 612170 -1506 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs1009575443 no no 0 T 0.000000 0 0.000085 0.000000 0.000000 0.000000 0.000000 0.000000 0.000205 0.000000 0.000000 0.000205 1 0 0 0 0 0 1 0 0 11740 4302 428 118 710 0 4878 968 336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 104 Genomes transition T C T>C 0.000 -0.117 208 PASS . . . . . . . . . . . . . UNKNOWN . . 0.19498608 . . @ 70 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 359.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I5624T|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.4498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4277T>C dist\x3d70590\x3bdist\x3d55227 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.518e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,179,248 +rs367665459 12 40883629 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40883629 40883629 Chr12(GRCh37):g.40883629C>T *4281 *4281 ENST00000454784.4:c.*4281C>T p.? p.? 49 612170 -1502 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs367665459 no no 0 T 0.000000 0 0.000130 0.000347 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000347 2 2 0 0 0 0 0 0 0 15432 5764 492 138 876 0 6546 1158 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 81 Genomes transition C T C>T 0.000 1.335 208 PASS . . . . . . . . . . . . . UNKNOWN . . 0.17783505 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 388.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I5625|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4281C>T dist\x3d70594\x3bdist\x3d55223 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367665459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs367665459 rs367665459 1 1538 10 1/0 0,174,249 +. 12 40884088 C T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884088 40884088 Chr12(GRCh37):g.40884088C>T *4740 *4740 ENST00000454784.4:c.*4740C>T p.? p.? 49 612170 -1043 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Donor Weakly Activated 40884086 63.7013 1.06116 0.282934 66.7844 0.000377 0.000464 0.006667 0.000000 0.000000 0.000000 0.000171 0.000000 0.000000 0.006667 9 3 4 0 0 0 2 0 0 23868 6468 600 248 1226 0 11714 2874 738 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 3 4 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 58 Genomes transition C T C>T 0.000 -1.328 161 PASS . . . . . . . . . . . . . UNKNOWN . . 0.108597286 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 442.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S5778|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.7246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4740C>T dist\x3d71053\x3bdist\x3d54764 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0004 0.0067 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-161 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +. 12 40884089 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884089 40884089 Chr12(GRCh37):g.40884089A>G *4741 *4741 ENST00000454784.4:c.*4741A>G p.? p.? 49 612170 -1042 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000357 0.000433 0.006349 0.000000 0.000000 0.000000 0.000163 0.000000 0.000000 0.006349 9 3 4 0 0 0 2 0 0 25190 6930 630 256 1286 0 12244 3068 776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 3 4 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 55 Genomes transition A G A>G 0.000 -1.651 181 PASS . . . . . . . . . . . . . UNKNOWN . . 0.11529934 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 451.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N5779D|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.8862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4741A>G dist\x3d71054\x3bdist\x3d54763 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0063 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,162,255 +. 12 40884116 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884116 40884116 Chr12(GRCh37):g.40884116A>G *4768 *4768 ENST00000454784.4:c.*4768A>G p.? p.? 49 612170 -1015 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000380 0.000370 0.009777 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 0.009777 11 3 7 0 0 0 1 0 0 28956 8098 716 286 1520 0 14074 3368 894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 3 7 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition A G A>G 0.000 0.205 181 PASS . . . . . . . . . . . . . UNKNOWN . . 0.11463415 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 410.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|S5788G|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4768A>G dist\x3d71081\x3bdist\x3d54736 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0098 0 0 0 7.105e-05 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,167,255 +. 12 40884121 C A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884121 40884121 Chr12(GRCh37):g.40884121C>A *4773 *4773 ENST00000454784.4:c.*4773C>A p.? p.? 49 612170 -1010 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs1051871280 yes no Frequency 1 C 0.000000 0 0.001084 0.000232 0.000000 0.007194 0.000000 0.000000 0.001587 0.001170 0.002183 0.007194 32 2 0 2 0 0 22 4 2 29516 8624 796 278 1620 0 13864 3418 916 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 2 0 2 0 0 22 4 2 0 0 0 0 0 0 0 0 0 RF 49 Genomes transversion C A C>A 0.000 -0.117 228 PASS . . . . . . . . . . . . . UNKNOWN . . 0.23627685 . . @ 99 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 419.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D5789E|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.3369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4773C>A dist\x3d71086\x3bdist\x3d54731 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0011 0 0.0072 0 0.0012 0.0016 0.0022 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,253 +. 12 40884136 T A - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884136 40884136 Chr12(GRCh37):g.40884136T>A *4788 *4788 ENST00000454784.4:c.*4788T>A p.? p.? 49 612170 -995 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000501 0.000000 0.000000 0.003676 0.000000 0.000000 0.000773 0.000288 0.002123 0.003676 15 0 0 1 0 0 11 1 2 29938 8586 820 272 1610 0 14232 3476 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 1 0 0 11 1 2 0 0 0 0 0 0 0 0 0 RF 50 Genomes transversion T A T>A 0.000 -0.602 172 PASS . . . . . . . . . . . . . UNKNOWN . . 0.17150396 . . @ 65 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 379.0 . . SYNONYMOUS_CODING(LOW|SILENT|acT/acA|T5794|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4788T>A dist\x3d71101\x3bdist\x3d54716 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0.0037 0 0.0003 0.0008 0.0021 . . . . . . . . . . . 1.0E-172 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,255 +. 12 40884137 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884137 40884137 Chr12(GRCh37):g.40884137A>G *4789 *4789 ENST00000454784.4:c.*4789A>G p.? p.? 49 612170 -994 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 0.000488 0.000000 0.000000 0.003333 0.000000 0.000000 0.000741 0.000288 0.002045 0.003333 15 0 0 1 0 0 11 1 2 30750 8698 832 300 1618 0 14850 3474 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 1 0 0 11 1 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition A G A>G 0.000 0.044 206 PASS . . . . . . . . . . . . . UNKNOWN . . 0.17487685 . . @ 71 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 406.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I5795V|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.2637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4789A>G dist\x3d71102\x3bdist\x3d54715 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0.0033 0 0.0003 0.0007 0.0020 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,173,255 +. 12 40884296 A G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884296 40884296 Chr12(GRCh37):g.40884296A>G *4948 *4948 ENST00000454784.4:c.*4948A>G p.? p.? 49 612170 -835 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 Cryptic Acceptor Strongly Activated 40884304 0.020887 3.72085 0.044338 76.5404 0.005240 0.003450 0.011538 0.000000 0.004438 0.000000 0.007601 0.000000 0.002809 0.011538 69 17 3 0 3 0 45 0 1 13168 4928 260 156 676 0 5920 872 356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 17 3 0 3 0 45 0 1 0 0 0 0 0 0 0 0 0 RF 111 Genomes transition A G A>G 0.000 1.255 188 PASS . . . . . . . . . . . . . UNKNOWN . . 0.12987013 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 462.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|S5848G|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.1186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . . . . ENSG00000205592 . MUC19 ENST00000454784:c.*4948A>G dist\x3d71261\x3bdist\x3d54556 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0052 0.0115 0 0.0044 0 0.0076 0.0028 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,163,255 +rs200694240 12 40884757 C G - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884757 40884757 Chr12(GRCh37):g.40884757C>G *5409 *5409 ENST00000454784.4:c.*5409C>G p.? p.? 49 612170 -374 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs200694240 no no 0 C 0.000000 0 0.000386 0.000290 0.000000 0.000000 0.000000 0.000000 0.000556 0.000360 0.000000 0.000556 9 2 0 0 0 0 6 1 0 23288 6902 602 220 1272 0 10786 2776 730 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 64 Genomes transversion C G C>G 0.000 -0.360 207 PASS . . . . . . . . . . . . . UNKNOWN . . 0.17634855 . . @ 85 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 482.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N6001K|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.5273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.37 0.32 182 ENSG00000205592 . MUC19 ENST00000454784:c.*5409C>G dist\x3d71722\x3bdist\x3d54095 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200694240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0004 0 0 0 0.0004 0.0006 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs200694240 rs200694240 1 1538 10 1/0 0,165,255 +rs78354426 12 40884758 A T - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution 3'UTR GRCh37 40884758 40884758 Chr12(GRCh37):g.40884758A>T *5410 *5410 ENST00000454784.4:c.*5410A>T p.? p.? 49 612170 -373 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs78354426 no no 0 A 0.000000 0 0.000572 0.000687 0.000000 0.000000 0.000000 0.000000 0.000703 0.000399 0.000000 0.000703 11 4 0 0 0 0 6 1 0 19242 5820 542 202 1012 0 8530 2506 630 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 4 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transversion A T A>T 0.000 -1.328 225 PASS . . . . . . . . . . . . . UNKNOWN . . 0.22633745 . . @ 110 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 486.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R6002W|MUC19|mRNA|CODING|NM_173600|NM_173600.ex.56) . . . . . . . -0.6120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . UTR3 intergenic exonic . . . @ . . . 0.42 0.38 182 ENSG00000205592 . MUC19 ENST00000454784:c.*5410A>T dist\x3d71723\x3bdist\x3d54094 . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78354426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0006 0 0 0 0.0004 0.0007 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . rs71449771 rs71449771 rs71449771 1 1538 10 1/0 0,169,241 +rs73112033 12 40907176 T C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 substitution intron GRCh37 40907176 40907176 Chr12(GRCh37):g.40907176T>C *5782+22046 *5782+22046 ENST00000454784.4:c.*5782+22046T>C p.? p.? 49 49 612170 22046 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 rs73112033 yes no Frequency/1000G 2 T 0.000000 0 0.007489 0.014835 0.000000 0.000000 0.032967 0.000000 0.004112 0.031250 0.006579 0.032967 63 27 0 0 6 0 24 5 1 8412 1820 58 204 182 0 5836 160 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 27 0 0 6 0 24 5 1 0 0 0 0 0 0 0 0 0 RF 235 Genomes transition T C T>C 0.008 0.690 205 PASS . . . . . . . . . . . . . . . . 0.17307693 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||MUC19|mRNA|CODING|NM_173600|) . . . . . . . -0.1039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . 0.37 0.29 182 ENSG00000205592 . MUC19 . dist\x3d94141\x3bdist\x3d31676 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73112033 0.098 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0148 0.0075 0 0 0.0330 0.0312 0.0041 0.0066 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . 0.098 . rs73112033 rs73112033 rs73112033 1 1538 10 1/0 0,231,255 +. 12 40907227 CCAGTTACTACTGGCCT C - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 deletion intron GRCh37 40907228 40907243 Chr12(GRCh37):g.40907228_40907243del *5782+22098 *5782+22113 ENST00000454784.4:c.*5782+22098_*5782+22113del p.? p.? 49 49 612170 22098 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 CAGTTACTACTGGCCT 255 Pass . . . . . . . . . . . . . . . . 0.12371134 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 97 . . INTRON(MODIFIER||||MUC19|mRNA|CODING|NM_173600|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000205592 . MUC19 . dist\x3d94193\x3bdist\x3d31609 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,91 +. 12 40907245 T TAAA - MUC19 14362 Mucin 19, oligomeric ENST00000454784.4 1 19628 10893 NP_775871.2 insertion intron GRCh37 40907245 40907246 Chr12(GRCh37):g.40907245_40907246insAAA *5782+22115 *5782+22116 ENST00000454784.4:c.*5782+22115_*5782+22116insAAA p.? p.? 49 49 612170 22115 5' 56.516 0 0.001191 0 56.516 0 0.001191 0 0 New Acceptor Site 40907247 4.1016 0.026923 70.8659 AAA 255 Pass . . . . . . . . . . . . . . . . 0.115384616 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 104 . . INTRON(MODIFIER||||MUC19|mRNA|CODING|NM_173600|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000205592 . MUC19 . dist\x3d94210\x3bdist\x3d31607 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,94 +. 12 42538281 G T - GXYLT1 27482 Glucoside xylosyltransferase 1 NM_173601.1 -1 7489 1323 NP_775872.1 Q4G148 substitution synonymous exon GRCh37 42538281 42538281 Chr12(GRCh37):g.42538281G>T 168 168 NM_173601.1:c.168C>A p.Ala56= p.Ala56Ala 1 613321 -54 5' 84.1959 X.66 0.961488 15.559 84.1959 X.66 0.961488 15.4093 0 rs991337229 no no 0 G 0.000000 0 COSM5764772 Large intestine 0.000450 2220 transversion C A C>A 0.323 -0.198 A Ala GCC 0.403 A Ala GCA 0.226 56 255 PASS . . . . . . . . . . . . . . . . 0.47619048 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . I.34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000151233 GXYLT1 GXYLT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 42538284 G A - GXYLT1 27482 Glucoside xylosyltransferase 1 NM_173601.1 -1 7489 1323 NP_775872.1 Q4G148 substitution synonymous exon GRCh37 42538284 42538284 Chr12(GRCh37):g.42538284G>A 165 165 NM_173601.1:c.165C>T p.Gly55= p.Gly55Gly 1 613321 -57 5' 84.1959 X.66 0.961488 15.559 84.1959 X.66 0.961488 15.1939 0 rs915847272 no no 0 G 0.000000 0 COSM5764748 Large intestine 0.000450 2220 transition C T C>T 0.850 -0.037 G Gly GGC 0.342 G Gly GGT 0.162 55 255 PASS . . . . . . . . . . . . . . . . 0.47619048 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 21.0 . . . . . . . . . . I.91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000151233 GXYLT1 GXYLT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 42538293 G T - GXYLT1 27482 Glucoside xylosyltransferase 1 NM_173601.1 -1 7489 1323 NP_775872.1 Q4G148 substitution synonymous exon GRCh37 42538293 42538293 Chr12(GRCh37):g.42538293G>T 156 156 NM_173601.1:c.156C>A p.Gly52= p.Gly52Gly 1 613321 -66 5' 84.1959 X.66 0.961488 15.559 84.1959 X.66 0.961488 15.1427 0 rs949684661 no no 0 G 0.000000 0 COSM5764824 Large intestine 0.000450 2220 transversion C A C>A 0.929 0.609 G Gly GGC 0.342 G Gly GGA 0.246 52 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . I.52 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000151233 GXYLT1 GXYLT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 42538294 C G - GXYLT1 27482 Glucoside xylosyltransferase 1 NM_173601.1 -1 7489 1323 NP_775872.1 Q4G148 substitution missense exon GRCh37 42538294 42538294 Chr12(GRCh37):g.42538294C>G 155 155 NM_173601.1:c.155G>C p.Gly52Ala p.Gly52Ala 1 613321 -67 5' 84.1959 X.66 0.961488 15.559 84.1959 X.66 0.961488 15.704 0 rs981140797 no no 0 C 0.000000 0 COSM5764750 Large intestine 0.000450 2220 transversion G C G>C 0.850 0.609 G Gly GGC 0.342 A Ala GCC 0.403 52 0 0 0 0.74 0 9 8.I 3 31 60 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.235 . @ . . . . . 1 0.245 . . 22.0 . . . . . . . . . . -0.6459 -0.531 -0.646 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.246 @ . . . . . . ENSG00000151233 GXYLT1 GXYLT1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.021 . . . . D 0.810 0.128 . . 37 . 0.367 . . 0.290 . . . 0.130 0.341 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.212 . . 0 0 0 0 0 0 . 0.186 . . 0.162 . . . . . . 0 0.167 . . . . . 0.180 . 0.359 . HET 0.02 . . . . . . . . . . . . . V.61 . . III.84 I.89 . 0.560000 . . . . . . 0.221 . . . . . . . . . . . . . . . . . . . . . . 0.040 . 0.246 0.246000 . . 0.560000 . . 1.0E-255 0.344 0.255 . 0.417 0.617 . 0.209 . 0.292 0.246 0.772 . . . . . 1 1538 10 1/0 0,255,255 +. 12 44200087 AGCCAGCGGCCCCG A - TWF1 9620 Twinfilin actin binding protein 1 NM_001242397.1 -1 3066 1074 NP_001229326.1 deletion 5'UTR GRCh37 44200088 44200100 Chr12(GRCh37):g.44200088_44200100del -52 -40 NM_001242397.1:c.-52_-40del p.? p.? 1 610932 -65 5' 81.6684 8.92197 0.917887 12.1585 81.6684 8.92197 0.917887 XII.99 0 rs528164053 yes no Frequency/1000G 2 0.000000 0 0.002596 0.003000 0.008200 0.000000 0.001000 0.000000 0.004862 0.001616 0.003482 0.001585 0.000000 0.003478 0.008280 0.002326 0.005875 0.008280 578 16 61 11 0 63 380 27 20 118888 9900 17520 6942 5506 18112 45894 11610 3404 0.000067 0.000000 0.000000 0.000000 0.000000 0.000000 0.000174 0.000000 0.000000 4 0 0 0 0 0 4 0 0 570 16 61 11 0 63 372 27 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5051 2249 7300 21 5 26 0.00414038 0.00221828 0.003549 0.00414038 0.00221828 0.003549 2 CGGGGCCGCTGGC 255 Pass . . . . . 0.003 0.0026 . . 0.001 0.0082 ENSG00000151239:ENST00000325127:exon1:c.51_63del:p.A17fs . . . . 0.32608697 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 46 . . . 0.0022 0.0037 0.0044 0.0022 0.0035 0.0041 . . . . . . . . . . 1.631e-03 . . . 0.0029 0.0042 0 0 0 0.0046 0.0088 0.0041 0.0032 0.0041 0 0 0 0.0050 0 0.0041 frameshift_deletion . . . . . exonic UTR5 UTR5 . . . . . . . . . . ENSG00000151239 TWF1 TWF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs528164053 . . . . . . . . . . . . . . . . . . . . . . . 0.003726 . . . . . 0.0016 0.0044 0.0034 0.0015 0 0.0024 0.0072 0.0062 0.0035 0.0016 0.0062 0.0061 0.0033 0 0.0021 0.0106 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0044 . . . . 1 1538 10 1.I 0,11,49 +rs146010731 12 49360194 A G - WNT10B 12775 Wingless-type MMTV integration site family, member 10B NM_003394.3 -1 2369 1170 NP_003385.2 O00744 substitution missense exon GRCh37 49360194 49360194 Chr12(GRCh37):g.49360194A>G 854 854 NM_003394.3:c.854T>C p.Ile285Thr p.Ile285Thr 5 601906 143 3' 76.1534 X.31 0.813476 11.0724 76.1534 X.31 0.813476 11.0724 0 Wnt rs146010731 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000626 0.000084 0.000378 0.000099 0.000106 0.001170 0.000881 0.000194 0.000465 0.001170 173 2 13 1 2 36 111 5 3 276324 23868 34414 10128 18844 30778 126052 25790 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 173 2 13 1 2 36 111 5 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 45 COSM5557102 Prostate 0.000549 1822 transition T C T>C 0.984 1.900 I Ile ATT 0.356 T Thr ACT 0.243 285 12 10 Zebrafish -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 234.99 43.70 Deleterious 0.01 III.58 bad 2.077E-3 0.001272 255 PASS . . . . . . 0.0004 0.0014 . 0.001 . ENSG00000169884:ENST00000301061:exon5:c.T854C:p.I285T WNT10B:uc001rss.3:exon5:c.T854C:p.I285T WNT10B:NM_003394:exon5:c.T854C:p.I285T . . 0.38513514 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.533 . @ . . . . . 1 0.825 . . 148.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I285T|WNT10B|mRNA|CODING|NM_003394|NM_003394.ex.5) . 0.0003 0.0005 . 0.0003 0.0005 . 0.5312 0.523 0.531 c . . . . . 7.498e-04 . . . 0 0.0009 0.0005 0 0.0003 0.0012 0 0.0013 0 0.0007 0.0005 0 0.0002 0.0008 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.773 . . exonic exonic exonic . . 0.528 0.0004 . . . 0.33 0.57 182 ENSG00000169884 WNT10B WNT10B . . . 1.000 0.448 . 24 0.000369367 64976 22 0.000366752 59986 Uncertain_significance . 0 . 0.537 . . . . D 0.853 0.177 . . 37 . 0.780 . . 0.801 . . . 0.755 0.810 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.456 . . 0.487 . . . . . . 0 0.721 . . . . . 0.287 . 0.538 . HET 0 rs146010731 . . . . . . . . . . . . 7.902 0.0 ENST00000301061 IV.43 IV.43 . 0.000000 O00744 . . Name\x3dnsv832404 0.000308 . 0.829 . . IV.43 6.6e-05 0.0007 0.0004 0.0001 0.0001 0.0001 0.0009 0.0005 0.0012 0.0001 0.0004 0 0 0 0.0006 0.0006 0 . . 0.417 . 2.010 2.010000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.750 0.914 . 0.711 . 0.916 2.010 1.062 0.0005 . . rs146010731 rs146010731 1 1538 10 1/0 0,235,255 +rs369975461 12 49392099 G A - DDN 24458 Dendrin NM_015086.1 -1 3744 2136 NP_055901.2 O94850 substitution missense exon GRCh37 49392099 49392099 Chr12(GRCh37):g.49392099G>A 560 560 NM_015086.1:c.560C>T p.Ser187Leu p.Ser187Leu 2 610588 351 3' 83.2118 8.01033 0.955239 9.01048 83.2118 8.01033 0.955239 9.01048 0 rs369975461 yes no Frequency 1 G 0.000000 0 0.000528 0.000111 0.000000 0.000251 0.000000 0.000000 0.001036 0.000594 0.000196 0.001036 108 2 0 2 0 0 93 10 1 204518 17992 26414 7966 14476 25996 89732 16844 5098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 2 0 2 0 0 93 10 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6238 2816 9054 2 0 2 0.000320513 0 0.000220848 0.000320513 0 0.000220848 5 transition C T C>T 1.000 1.255 S Ser TCG 0.056 L Leu TTG 0.127 187 12 5 Olive baboon -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 123.92 30.92 Deleterious 0.05 IV.32 good 2.478E-1 0.0499 255 PASS . . . . . . . . . . . ENSG00000181418:ENST00000421952:exon2:c.C560T:p.S187L DDN:uc001rsv.1:exon2:c.C560T:p.S187L DDN:NM_015086:exon2:c.C560T:p.S187L . . 0.42372882 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.537 . @ . . . . . 1 0.590 . . 59.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . -0.6347 -0.552 -0.635 c . . . . . 4.385e-04 . . . 0.0004 0.0005 0 0 0.0018 0.0011 0 0 0.0004 0.0009 0 0 0.0013 0.0016 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . 0.284 @ . . . 0.58 0.53 182 ENSG00000181418 DDN DDN . . . 1.000 0.747 . 20 0.000307806 64976 20 0.000333411 59986 Uncertain_significance . 0 . 0.196 . . . . D 0.628 0.047 . . 37 . 0.187 . . 0.139 . . . 0.170 0.224 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.516 . . 0 0 0 0 0 0 . 0.297 . . 0.195 . . . . . . 3 0.416 . . . . . 0.272 . 0.356 . HET 0.18 rs369975461 . . . . . . . . . . . . VII.74 0.0 ENST00000421952 3.III II.39 . 0.350000 O94850 . . . 0.000221 . 0.133 . . II.39 0.0001 0.0005 0 0.0003 0 0.0007 0.0010 0 0 0.0001 0.0007 0 0 0 0.0003 0.0013 0.0010 . . 0.552 . 0.952 0.952000 . . 0.350000 . . 1.0E-255 0.011 0.184 . 0.498 0.941 . 0.387 . 0.200 0.952 -0.186 0.0003 . . rs369975461 rs369975461 1 1538 10 1/0 0,255,255 +rs774600578 12 49444903 G A - KMT2D 7133 Lysine (K)-specific methyltransferase 2D NM_003482.3 -1 19419 16614 NP_003473.3 O14686 substitution missense exon GRCh37 49444903 49444903 Chr12(GRCh37):g.49444903G>A 2563 2563 NM_003482.3:c.2563C>T p.Leu855Phe p.Leu855Phe 10 602113 -235 5' 94.9812 11.083 0.997797 4.0404 94.9812 11.083 0.997797 4.0404 0 transition C T C>T 0.213 0.932 L Leu CTT 0.129 F Phe TTT 0.454 855 14 4 Macaque 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.2 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000167548:ENST00000301067:exon10:c.C2563T:p.L855F KMT2D:uc001rta.4:exon10:c.C2563T:p.L855F KMT2D:NM_003482:exon10:c.C2563T:p.L855F . . 0.51744187 . . @ 89 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.116 . . 172.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L855F|KMT2D|mRNA|CODING|NM_003482|NM_003482.ex.10) . . . . . . . -0.7180 -0.673 -0.718 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . 0.369 @ . . . . . . ENSG00000167548 KMT2D KMT2D . . . 0.998 0.365 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.880 0.224 . . 37 . 0.194 . . 0.079 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.181 . . 0 0 0 0 0 0 . 0.167 . . 0.158 . . . . . . 0 0.212 . . . . . 0.218 . 0.058 . HET . . . . . . . . . . . . . . VI.75 . ENST00000301067 III.31 III.31 . 0.000000 O14686 . . . . . 0.224 . . III.31 . . . . . . . . . . . . . . . . . . . 0.830 . 2.157 2.157000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.231 0.001 . 0.122 . 0.316 2.157 -0.287 . . . . . 1 1538 10 1/0 0,233,243 +. 12 49621797 G C - TUBA1C 20768 Tubulin, alpha 1c NM_001303114.1 1 1699 1560 NP_001290043.1 substitution missense exon GRCh37 49621797 49621797 Chr12(GRCh37):g.49621797G>C 61 61 NM_001303114.1:c.61G>C p.Glu21Gln p.Glu21Gln 1 -153 5' 94.6745 X.23 0.99825 4.78179 94.6745 X.23 0.99825 4.78179 0 Cryptic Acceptor Strongly Activated 49621804 6.44962 0.022936 62.1955 7.17691 0.108093 65.9386 rs936351588 no no 0 G 0.000000 0 0.000058 0.000000 0.000000 0.000000 0.000174 0.000000 0.000100 0.000114 0.000000 0.000174 9 0 0 0 2 0 6 1 0 154462 14562 24462 8164 11468 22444 60094 8798 4470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 0 2 0 6 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.488 0.528 E Glu GAA 0.417 Q Gln CAA 0.256 21 12 2 Dog 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . . . . . . . . . . . . TUBA1C:uc010smh.1:exon1:c.G61C:p.E21Q TUBA1C:NM_001303114:exon1:c.G61C:p.E21Q . . 0.40350878 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.125 . @ . . . . . 1 0.378 . . 57.0 . . . . . . . . . . -0.5391 -0.474 -0.539 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.767 . . exonic exonic exonic . . 0.257 @ . . . . . . ENSG00000167553 TUBA1C TUBA1C . . . 0.998 0.367 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.571 0.036 . . 37 . 0.641 . . 0.622 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.073 . . 0 0 0 0 0 0 . 0.102 . . 0.188 . . . . . . 0 0.225 . . . . . 0.117 . 0.166 . HET . . . . . . . . . . . . . . IV.88 . ENST00000541364 III.96 2.IV . 0.080000 F5H5D3 . . . . . 0.305 . . 2.IV 0 5.669e-05 0 0 0.0002 0 0.0001 0 0 0 6.455e-05 0 0 0 0.0003 6.661e-05 0 . . 0.059 . 0.585 0.585000 . . 0.080000 . . 1.0E-255 0.968 0.339 . 0.394 0.043 . 0.272 . 0.181 0.585 0.630 . . . . . 1 1538 10 1/0 0,255,255 +rs117109315 12 50385930 A C - RACGAP1 9804 Rac GTPase activating protein 1 NM_001320006.1 -1 3239 1935 NP_001306935.1 substitution intron GRCh37 50385930 50385930 Chr12(GRCh37):g.50385930A>C 1615-14 1615-14 NM_001320006.1:c.1615-14T>G p.? p.? 16 15 604980 -14 3' 81.8139 7.11404 0.874586 3.92245 76.6313 7.36932 0.720293 3.40705 -0.0679599 rs117109315 yes no Frequency/1000G 2 A 0.000000 0 0.003994 0.000800 0.000000 0.000000 0.013900 0.007200 0.007897 0.001959 0.003619 0.009925 0.000106 0.003815 0.011741 0.009750 0.008854 0.011741 2180 47 123 100 2 117 1483 251 57 276044 23996 33984 10076 18834 30666 126306 25744 6438 0.000087 0.000000 0.000000 0.000000 0.000000 0.000196 0.000127 0.000078 0.000000 12 0 0 0 0 3 8 1 0 2156 47 123 100 2 111 1467 249 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8492 4395 12887 108 11 119 0.0125581 0.0024966 0.00914962 0.0125581 0.0024966 0.00914962 92 transversion T G T>G 0.024 0.044 255 PASS 0.002 0.01 0.01 . 0.02 0.0008 0.004 0.0072 . 0.014 . . . . . . 0.6304348 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . 0.0025 0.0092 0.013 0.0025 0.0091 0.013 . 0.6723 . . . . . . . . 7.941e-03 . . . 0.0027 0.0070 0.0029 0 0.0103 0.0110 0.0084 0.0040 0.0028 0.0077 0.0029 0 0.0098 0.0115 0.0072 0.0040 . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.47 0.13 182 ENSG00000161800 RACGAP1 RACGAP1 . . . . . . 708 0.0108963 64976 689 0.011486 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117109315 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.009150 . . . . . 0.0020 0.0080 0.0034 0.0102 0.0001 0.0093 0.0119 0.0093 0.0038 0.0018 0.0074 0.0107 0 0 0.0123 0.0103 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs117109315 rs117109315 1 1538 10 1/0 0,255,255 +rs772952491 12 50498378 C T - GPD1 4455 Glycerol-3-phosphate dehydrogenase 1 (soluble) NM_005276.3 1 3083 1050 NP_005267.2 P21695 substitution synonymous exon GRCh37 50498378 50498378 Chr12(GRCh37):g.50498378C>T 63 63 NM_005276.3:c.63C>T p.Ile21= p.Ile21Ile 2 138420 22 3' 79.3946 12.1894 0.775134 13.0619 79.3946 12.1894 0.775134 XII.93 0 Cryptic Acceptor Strongly Activated 50498395 0.332196 0.00012 63.7125 0.618506 0.000242 63.7125 Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal Glycerol-3-phosphate dehydrogenase, NAD-dependent, eukaryotic Glycerol-3-phosphate dehydrogenase, NAD-dependent rs772952491 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000033 0.000018 0.000000 0.000000 0.000033 3 0 0 0 0 1 2 0 0 245998 15294 33572 9838 17248 30768 111518 22284 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 66 Exomes COSM940301 Endometrium 0.001524 656 transition C T C>T 0.929 -0.360 I Ile ATC 0.481 I Ile ATT 0.356 21 255 PASS . . . . . . . . . . . ENSG00000167588:ENST00000547964:exon3:c.C107T:p.S36L . . . . 0.5425532 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 94.0 . . . . . . . . . . 0.7984 . . . . . . . . 1.579e-05 . . . 0 2.216e-05 0 0 0 4.783e-05 0 0 0 1.887e-05 0 0 0 3.69e-05 0 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167588 GPD1 GPD1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs772952491 . . . . . . ID\x3dCOSM940301\x3bOCCURENCE\x3d1(endometrium) . . . . . . . . . . . . . . . . . . . . . . 0 1.22e-05 0 0 0 0 1.793e-05 0 3.25e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 50535960 G C - CERS5 23749 Ceramide synthase 5 NM_147190.3 -1 2654 1179 NP_671723.1 Q8N5B7 substitution intron GRCh37 50535960 50535960 Chr12(GRCh37):g.50535960G>C 435-67 435-67 NM_147190.3:c.435-67C>G p.? p.? 4 3 615335 -67 3' 86.1009 9.30942 0.890717 5.13107 86.1009 9.30942 0.890717 5.20523 0 50535961 -10.1471 transversion C G C>G 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.53571427 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -0.1512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000272368 CERS5 CERS5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs182348615 12 51122308 G C - DIP2B 29284 DIP2 disco-interacting protein 2 homolog B (Drosophila) NM_173602.2 1 8715 4731 NP_775873.2 Q9P265 substitution intron GRCh37 51122308 51122308 Chr12(GRCh37):g.51122308G>C 3511-23 3511-23 NM_173602.2:c.3511-23G>C p.? p.? 30 29 611379 -23 3' 86.0348 9.91066 0.959557 XII.16 86.0348 9.91066 0.959557 13.1085 0 rs182348615 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.004000 0.000000 0.004047 0.000666 0.000379 0.000099 0.000000 0.002907 0.004897 0.013550 0.005139 0.013550 1116 16 13 1 0 89 616 348 33 275726 24016 34266 10092 18854 30614 125780 25682 6422 0.000036 0.000000 0.000000 0.000000 0.000000 0.000131 0.000016 0.000156 0.000000 5 0 0 0 0 2 1 2 0 1106 16 13 1 0 85 614 344 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4405 12974 31 1 32 0.00360465 0.000226963 0.0024604 0.00360465 0.000226963 0.0024604 98 transversion G C G>C 0.000 0.205 255 PASS . 0.0014 . . 0.004 . 0.001 . . 0.004 0.001 . . . . . 0.48214287 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||DIP2B|mRNA|CODING|NM_173602|) 0.0002 0.0025 0.0036 0.0002 0.0025 0.0036 . 0.9290 . . . . . . . . 4.460e-03 . . . 0.0006 0.0026 0 0 0.0108 0.0032 0.0029 0.0030 0.0003 0.0045 0 0 0.0103 0.0066 0.0059 0.0029 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.7 0.35 182 ENSG00000066084 DIP2B DIP2B . . . . . . 241 0.00370906 64976 236 0.00393425 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs182348615 . . . . . . . . . . . . . . . . . . . . . . . 0.002460 . . . . III.14 0.0006 0.0040 0.0004 0.0001 0 0.0137 0.0049 0.0050 0.0029 0.0008 0.0041 0 0 0 0.0126 0.0047 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs182348615 rs182348615 1 1538 10 1/0 0,255,255 +. 12 51386528 AAG A - SLC11A2 10908 Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 NM_001174125.1 -1 4156 1773 NP_001167596.1 deletion intron GRCh37 51386529 51386530 Chr12(GRCh37):g.51386529_51386530del 1284+63 1284+64 NM_001174125.1:c.1284+63_1284+64del p.? p.? 12 12 600523 63 5' 86.16 X.92 0.992866 6.45086 86.16 X.92 0.992866 6.45658 0 rs879020091 no no 0 0.000000 0 0.001418 0.000471 0.009259 0.012048 0.002513 0.000000 0.001009 0.006780 0.004329 0.012048 25 3 3 2 2 0 9 4 2 17628 6368 324 166 796 0 8922 590 462 0.320000 0.000000 0.333333 0.500000 0.000000 0.000000 0.333333 0.500000 0.500000 8 0 1 1 0 0 3 2 1 9 3 1 0 2 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 47 Genomes CT 255 Pass . . . . . . . . . . . . . . . . 0.4117647 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000110911 SLC11A2 SLC11A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3desv34039 . . . . . . . . . . . . . . . 0.0005 0.0014 0.0093 0.0120 0.0025 0.0068 0.0010 0.0043 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,23,255 +rs149264090 12 53566174 A T - CSAD 18966 Cysteine sulfinic acid decarboxylase NM_015989.4 -1 2695 1563 NP_057073.4 substitution missense exon GRCh37 53566174 53566174 Chr12(GRCh37):g.53566174A>T 381 381 NM_015989.4:c.381T>A p.His127Gln p.His127Gln 6 616569 -45 5' 68.8088 4.43656 0.262409 4.66469 68.8088 4.43656 0.262409 4.67791 0 New Acceptor Site 53566172 0.761892 0.001453 64.1844 Pyridoxal phosphate-dependent decarboxylase rs149264090 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.003000 0.005800 0.003164 0.000458 0.005840 0.005024 0.000000 0.001462 0.004001 0.001707 0.002783 0.005840 877 11 201 51 0 45 507 44 18 277190 24014 34420 10152 18868 30782 126706 25780 6468 0.000022 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 3 0 1 0 0 0 2 0 0 871 11 199 51 0 45 503 44 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4406 12975 31 0 31 0.00360465 0 0.00238352 0.00360465 0 0.00238352 95 transversion T A T>A 0.953 -0.198 H His CAT 0.413 Q Gln CAA 0.256 127 12 10 Zebrafish 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 209.02 I.62 Deleterious 0.04 III.53 good 1.813E-2 0.01745 255 PASS . 0.0009 . . 0.0026 . 0.0014 0.0058 . 0.003 . . . . . . 0.505618 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.513 . @ . . . . . 1 0.307 . . 89.0 . . . . 0.0024 0.0036 . 0.0024 0.0036 . -0.4768 -0.665 -0.477 c . . . . . 3.165e-03 . . . 0.0003 0.0032 0.0054 0 0.0016 0.0045 0.0028 0.0016 0.0003 0.0032 0.0054 0 0.0018 0.0043 0.0029 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.372 . . exonic exonic exonic . . 0.026 0.0014 . . . 0.35 0.27 182 ENSG00000139631 CSAD CSAD . . . 1.000 0.500 . 197 0.00303189 64976 190 0.00316741 59986 Likely_benign . 0 . 0.629 . . . . T 0.429 0.020 . . 37 . 0.451 . . 0.480 . . . 0.513 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.815 . . 0 0 0 0 0 0 . 0.715 . . 0.688 . . . . . . 0 0.682 . . . . . 0.783 . 0.877 . HET 0.01 rs149264090 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 15.8217 0.0 . 5.I -5.21 . 0.250000 . . . . 0.002384 . 0.224 . . . 0.0004 0.0033 0.0059 0.0050 0 0.0017 0.0042 0.0031 0.0015 0.0006 0.0018 0.0036 0.0066 0 0.0017 0.0025 0.0010 . . 0.609 . -0.906 -0.906000 . . 0.250000 . . 1.0E-255 0.197 0.241 . 0.270 0.967 . 0.123 . 0.061 -0.906 0.079 0.0036 . . rs149264090 rs149264090 1 1538 10 1/0 0,255,255 +rs190789570 12 54378834 T C - HOXC-AS3 43751 HOXC cluster antisense RNA 3 NR_047506.1 -1 368 0 substitution exon GRCh37 54378834 54378834 Chr12(GRCh37):g.54378834T>C 78 78 NR_047506.1:n.78A>G 2 34 3' 60.7371 1.54526 0.000185 0 60.7371 1.54526 0.000185 0 0 rs190789570 yes no Frequency/1000G 2 T 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.005000 0.004300 0.004953 0.000689 0.003580 0.006623 0.000000 0.000000 0.008365 0.003721 0.004090 0.008365 153 6 3 2 0 0 125 13 4 30888 8712 838 302 1620 0 14944 3494 978 0.013072 0.000000 0.000000 0.000000 0.000000 0.000000 0.016000 0.000000 0.000000 2 0 0 0 0 0 2 0 0 149 6 3 2 0 0 121 13 4 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition A G A>G 1.000 4.079 255 PASS . 0.0027 0.01 . 0.01 0.0008 0.0028 0.0043 . 0.005 0.0051 . . . . . 0.33333334 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . II.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . 0.0028 . . . 0.62 0.52 182 ENSG00000251151 HOXC10 HOXC-AS3 . . . . . . 307 0.00472482 64976 293 0.00488447 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190789570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.33 . . . . . . . . . 0.0007 0.0050 0.0036 0.0066 0 0.0037 0.0084 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190789570 rs190789570 1 1538 10 1/0 0,255,255 +rs190789570 12 54378834 T C - HOXC10 5122 Homeobox C10 NM_017409.3 1 1960 1029 NP_059105.2 Q9NYD6 substitution upstream GRCh37 54378834 54378834 Chr12(GRCh37):g.54378834T>C -210 -210 NM_017409.3:c.-210T>C p.? p.? 1 605560 -961 5' 94.6745 X.23 0.998904 14.3237 94.6745 X.23 0.998904 14.3237 0 rs190789570 yes no Frequency/1000G 2 T 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.005000 0.004300 0.004953 0.000689 0.003580 0.006623 0.000000 0.000000 0.008365 0.003721 0.004090 0.008365 153 6 3 2 0 0 125 13 4 30888 8712 838 302 1620 0 14944 3494 978 0.013072 0.000000 0.000000 0.000000 0.000000 0.000000 0.016000 0.000000 0.000000 2 0 0 0 0 0 2 0 0 149 6 3 2 0 0 121 13 4 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 1.000 4.079 255 PASS . 0.0027 0.01 . 0.01 0.0008 0.0028 0.0043 . 0.005 0.0051 . . . . . 0.33333334 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . II.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . 0.0028 . . . 0.62 0.52 182 ENSG00000251151 HOXC10 HOXC-AS3 . . . . . . 307 0.00472482 64976 293 0.00488447 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190789570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.33 . . . . . . . . . 0.0007 0.0050 0.0036 0.0066 0 0.0037 0.0084 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190789570 rs190789570 1 1538 10 1/0 0,255,255 +rs35784648 12 54394149 G A - HOXC-AS1 43749 HOXC cluster antisense RNA 1 XR_245986.1 -1 745 0 substitution upstream GRCh37 54394149 54394149 Chr12(GRCh37):g.54394149G>A -290 -290 XR_245986.1:n.-290C>T p.? p.? 1 -789 5' 64.1225 3.29971 0.073772 0.669549 64.1225 3.29971 0.073772 0.669549 0 rs35784648 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.005100 0.000000 0.001000 0.000000 0.003256 0.000584 0.000581 0.000888 0.000000 0.005003 0.004168 0.006359 0.002167 0.006359 901 14 20 9 0 154 527 163 14 276698 23960 34416 10140 18860 30782 126446 25634 6460 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000156 0.000000 4 0 0 0 0 0 2 2 0 893 14 20 9 0 154 523 159 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4402 12971 27 4 31 0.003141 0.000907853 0.00238425 0.003141 0.000907853 0.00238425 36 transition C T C>T 0.992 0.205 255 PASS . 0. . . . . 0.0012 . . 0.001 0.0051 . HOXC9:uc001seq.3:exon1:c.G177A:p.P59P HOXC9:NM_006897:exon1:c.G177A:p.P59P . . 0.4478261 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 230.0 . . . 0.0009 0.0024 0.0031 0.0009 0.0024 0.0031 . 2.0326 . . . . . . . . 3.276e-03 . . . 0.0010 0.0029 0.0007 0 0.0058 0.0036 0 0.0045 0.0008 0.0032 0.0006 0 0.0058 0.0039 0 0.0045 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.23 0.49 182 ENSG00000180806 HOXC9 HOXC9 . . . . . . 213 0.00327813 64976 208 0.00346748 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35784648 . . . . . . . . . . . . . . . . . . . . . . . 0.002384 . . . . II.13 0.0008 0.0032 0.0006 0.0009 0 0.0063 0.0040 0.0016 0.0050 0.0002 0.0035 0.0012 0 0 0.0066 0.0051 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0031 rs35784648 rs35784648 rs35784648 rs35784648 1 1538 10 1/0 0,222,251 +rs35784648 12 54394149 G A - HOXC9 5130 Homeobox C9 NM_006897.2 1 1516 783 NP_008828.1 P31274 substitution synonymous exon GRCh37 54394149 54394149 Chr12(GRCh37):g.54394149G>A 177 177 NM_006897.2:c.177G>A p.Pro59= p.Pro59Pro 1 142971 -362 5' 78.9497 9.09184 0.96285 13.5641 78.9497 9.09184 0.96285 13.5641 0 Hox9, N-terminal activation domain Homeobox protein Hox9 rs35784648 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.005100 0.000000 0.001000 0.000000 0.003256 0.000584 0.000581 0.000888 0.000000 0.005003 0.004168 0.006359 0.002167 0.006359 901 14 20 9 0 154 527 163 14 276698 23960 34416 10140 18860 30782 126446 25634 6460 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000156 0.000000 4 0 0 0 0 0 2 2 0 893 14 20 9 0 154 523 159 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4402 12971 27 4 31 0.003141 0.000907853 0.00238425 0.003141 0.000907853 0.00238425 36 transition G A G>A 0.992 0.205 P Pro CCG 0.115 P Pro CCA 0.274 59 255 PASS . 0. . . . . 0.0012 . . 0.001 0.0051 . HOXC9:uc001seq.3:exon1:c.G177A:p.P59P HOXC9:NM_006897:exon1:c.G177A:p.P59P . . 0.4478261 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 230.0 . . . 0.0009 0.0024 0.0031 0.0009 0.0024 0.0031 . 2.0326 . . . . . . . . 3.276e-03 . . . 0.0010 0.0029 0.0007 0 0.0058 0.0036 0 0.0045 0.0008 0.0032 0.0006 0 0.0058 0.0039 0 0.0045 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.23 0.49 182 ENSG00000180806 HOXC9 HOXC9 . . . . . . 213 0.00327813 64976 208 0.00346748 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35784648 . . . . . . . . . . . . . . . . . . . . . . . 0.002384 . . . . II.13 0.0008 0.0032 0.0006 0.0009 0 0.0063 0.0040 0.0016 0.0050 0.0002 0.0035 0.0012 0 0 0.0066 0.0051 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0031 rs35784648 rs35784648 rs35784648 rs35784648 1 1538 10 1/0 0,222,251 +rs34021536 (chr12:55805045 A/G) 12 55805045 A G No Alamut gene - other known genes: PHC1B PHC1B +rs201726730 (chr12:55807775 G/A) 12 55807775 G A No Alamut gene - other known genes: PHC1B PHC1B +. 12 56087036 A C - ITGA7 6143 Integrin, alpha 7 NM_001144996.1 -1 4136 3426 NP_001138468.1 substitution missense exon GRCh37 56087036 56087036 Chr12(GRCh37):g.56087036A>C 2613 2613 NM_001144996.1:c.2613T>G p.His871Gln p.His871Gln 20 600536 66 3' 94.386 XII.08 0.998494 13.1333 94.386 XII.08 0.998494 XII.81 0 New Acceptor Site 56087035 IV.42 0.228281 79.29 Integrin alpha-2 transversion T G T>G 0.520 -1.086 H His CAT 0.413 Q Gln CAG 0.744 871 13 8 Platypus 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 86.26 19.90 Tolerated 0.13 II.92 good 9.72E-2 0.03433 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . @ 6 . . 1.2.2016 0 1 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.433 . @ . . . . . 1 0.206 . . 49.0 . . . . . . . . . . -0.8583 -0.932 -0.858 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.018 @ . . . . . . ENSG00000135424 ITGA7 ITGA7 . . . 0.984 0.306 . . . . . . . Likely_benign . 0 . 0.486 . . . . T 0.479 0.025 . . 37 . 0.426 . . 0.470 . . . 0.547 0.270 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.503 . . 0 0 0 0 0 0 . 0.425 . . 0.516 . . . . . . 0 0.265 . . . . . 0.729 . 0.545 . LowAF 0.07 . . . . . . . . . . . . . 15.2204 . . IV.83 -6.32 . 0.400000 . . . . . . 0.164 . . . . . . . . . . . . . . . . . . . . . . 0.924 . -1.331 -1.331000 . . 0.400000 . . 9.999999999999999E-185 0.000 0.063 . 0.750 0.994 . 0.017 . 0.208 -1.331 -0.168 . . . . . 1 1538 10 1.I 0,0,0 +rs531753714 12 56211747 G C - ORMDL2 16037 ORM1-like 2 (S. cerevisiae) NM_014182.4 1 1334 462 NP_054901.1 Q53FV1 substitution upstream GRCh37 56211747 56211747 Chr12(GRCh37):g.56211747G>C -151 -151 NM_014182.4:c.-151G>C p.? p.? 1 610074 -150 5' 84.5905 9.78584 0.908294 6.91419 84.5905 9.78584 0.908294 6.91419 0 Cryptic Acceptor Strongly Activated 56211756 8.57224 0.832213 86.9746 X.28 0.940242 87.5076 rs531753714 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.006949 0.000115 0.000000 0.000000 0.000000 0.000000 0.009672 0.017755 0.007187 0.017755 215 1 0 0 0 0 145 62 7 30938 8720 836 302 1622 0 14992 3492 974 0.023256 0.000000 0.000000 0.000000 0.000000 0.000000 0.034483 0.000000 0.000000 5 0 0 0 0 0 5 0 0 205 1 0 0 0 0 135 62 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G C G>C 0.000 -1.167 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.48314607 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . . . . . . . . . 1.0766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5\x3bUTR3 intronic upstream . . . 0.0002 . . . . . . ENSG00000123353\x3bENSG00000257390 DNAJC14 . . . . . . . 99 0.00152364 64976 98 0.00163371 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531753714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0069 0 0 0 0.0178 0.0097 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs531753714 12 56211747 G C - SARNP 24432 SAP domain containing ribonucleoprotein NM_033082.3 -1 930 633 NP_149073.1 P82979 substitution upstream GRCh37 56211747 56211747 Chr12(GRCh37):g.56211747G>C -262 -262 NM_033082.3:c.-262C>G p.? p.? 1 610049 -298 5' 71.1933 IX.49 0.878352 VI.94 71.1933 IX.49 0.878352 VI.94 0 rs531753714 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.006949 0.000115 0.000000 0.000000 0.000000 0.000000 0.009672 0.017755 0.007187 0.017755 215 1 0 0 0 0 145 62 7 30938 8720 836 302 1622 0 14992 3492 974 0.023256 0.000000 0.000000 0.000000 0.000000 0.000000 0.034483 0.000000 0.000000 5 0 0 0 0 0 5 0 0 205 1 0 0 0 0 135 62 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion C G C>G 0.000 -1.167 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.48314607 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . . . . . . . . . 1.0766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5\x3bUTR3 intronic upstream . . . 0.0002 . . . . . . ENSG00000123353\x3bENSG00000257390 DNAJC14 . . . . . . . 99 0.00152364 64976 98 0.00163371 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs531753714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0069 0 0 0 0.0178 0.0097 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs56017157 12 56477541 C T - ERBB3 3431 V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) NM_001982.3 1 5757 4029 NP_001973.2 P21860 substitution missense exon GRCh37 56477541 56477541 Chr12(GRCh37):g.56477541C>T 89 89 NM_001982.3:c.89C>T p.Pro30Leu p.Pro30Leu 2 190151 7 3' 78.9067 8.27225 0.14232 XI.89 78.9067 8.27225 0.10661 X.59 -0.0836378 Tyrosine protein kinase, EGF/ERB/XmrK receptor rs56017157 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.002000 0.002900 0.002388 0.000083 0.000813 0.000099 0.000159 0.002631 0.002399 0.008299 0.004486 0.008299 662 2 28 1 3 81 304 214 29 277216 24030 34420 10152 18870 30782 126712 25786 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 660 2 28 1 3 81 304 212 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8582 4405 12987 18 1 19 0.00209302 0.000226963 0.00146086 0.00209302 0.000226963 0.00146086 189 transition C T C>T 0.969 3.757 P Pro CCT 0.283 L Leu CTT 0.129 30 12 9 Cow -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 209.54 94.04 Deleterious 0.01 IV.32 bad 3.336E-4 0.00457 255 PASS . 0.0018 0.01 . 0.0026 . 0.001 0.0029 . 0.002 0.001 . . . . . 0.4574468 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.466 . @ . . . . . 1 0.130 . . 94.0 . . . 0.0002 0.0015 0.0021 0.0002 0.0015 0.0021 . -0.0050 0.103 -0.005 c . . . . . 2.155e-03 . . . 0.0003 0.0019 0.0007 0 0.0060 0.0023 0.0014 0.0026 0.0001 0.0020 0.0007 0 0.0065 0.0022 0.0014 0.0026 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.839 . . exonic exonic exonic . . 0.793 0.0010 . . . 0.5 0.62 182 ENSG00000065361 ERBB3 ERBB3 . . . 1.000 0.747 . 151 0.00232394 64976 146 0.0024339 59986 Uncertain_significance . 0 . 0.388 . . . . D 0.503 0.027 . . 37 . 0.708 . . 0.767 . . . 0.311 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.482 . . 0.469 . . . . . . 0 0.319 . . . . . 0.825 . 0.520 . HET 0.07 rs56017157 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 16.2954 0.0 . V.44 V.44 . 0.080000 . . . Name\x3dnsv832427 0.001461 . 0.315 . . V.44 6.534e-05 0.0023 0.0008 0.0001 0.0002 0.0082 0.0022 0.0040 0.0026 0.0001 0.0033 0 0 0 0.0092 0.0041 0.0072 . . 0.406 . 2.828 2.828000 . . 0.080000 . . 1.0E-255 0.042 0.209 . 0.697 0.930 . 0.482 . 0.490 2.828 0.871 0.01 rs56017157 rs56017157 rs56017157 rs56017157 1 1538 10 1/0 0,255,255 +rs55880327 12 56487657 G C - ERBB3 3431 V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) NM_001982.3 1 5757 4029 NP_001973.2 P21860 substitution synonymous exon GRCh37 56487657 56487657 Chr12(GRCh37):g.56487657G>C 1590 1590 NM_001982.3:c.1590G>C p.Val530= p.Val530Val 13 190151 -24 5' 58.9556 0.890482 0.078478 3.48968 58.9556 0.890482 0.078478 3.11389 0 Furin-like repeat Tyrosine protein kinase, EGF/ERB/XmrK receptor rs55880327 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.002000 0.002900 0.002238 0.000083 0.000697 0.000099 0.000053 0.002502 0.002164 0.008304 0.004177 0.008304 620 2 24 1 1 77 274 214 27 277070 24012 34416 10146 18868 30780 126612 25772 6464 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000078 0.000000 1 0 0 0 0 0 0 1 0 618 2 24 1 1 77 274 212 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4405 12990 15 1 16 0.00174419 0.000226963 0.0012302 0.00174419 0.000226963 0.0012302 81 transversion G C G>C 0.992 0.125 V Val GTG 0.468 V Val GTC 0.240 530 255 PASS . 0.0018 0.01 . 0.0026 . 0.001 0.0029 . 0.002 0.001 . . ERBB3:NM_001982:exon13:c.G1590C:p.V530V . . 0.5 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtC|V530|ERBB3|mRNA|CODING|NM_001982|NM_001982.ex.13) 0.0002 0.0012 0.0017 0.0002 0.0012 0.0017 . 1.0240 . . . . . . . . 2.028e-03 . . . 0.0002 0.0018 0.0006 0 0.0060 0.0022 0.0014 0.0025 0.0001 0.0019 0.0006 0 0.0064 0.0020 0.0014 0.0025 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.59 0.49 182 ENSG00000065361 ERBB3 ERBB3 . . . . . . 137 0.00210847 64976 132 0.00220051 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55880327 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832427 0.001230 . . . . . 6.534e-05 0.0021 0.0007 0.0001 5.798e-05 0.0082 0.0020 0.0036 0.0025 0.0001 0.0030 0 0 0 0.0092 0.0036 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs55880327 rs55880327 rs55880327 rs55880327 1 1538 10 1/0 0,242,249 +rs2066814 12 56742445 T C - STAT2 11363 Signal transducer and activator of transcription 2, 113kDa NM_005419.3 -1 4551 2556 NP_005410.1 P52630 substitution intron GRCh37 56742445 56742445 Chr12(GRCh37):g.56742445T>C 1630-38 1630-38 NM_005419.3:c.1630-38A>G p.? p.? 19 18 600556 -38 3' 83.644 9.88087 0.880649 X.83 83.644 9.88087 0.880649 X.44 0 rs2066814 yes no Frequency/HapMap/1000G 3 T 0.000000 0 0.001797 0.000000 0.004100 0.000000 0.004000 0.001400 0.005392 0.000874 0.002993 0.007585 0.000000 0.005003 0.008071 0.003026 0.006035 0.008071 1494 21 103 77 0 154 1022 78 39 277078 24014 34412 10152 18856 30780 126624 25778 6462 0.000072 0.000000 0.000174 0.000000 0.000000 0.000260 0.000047 0.000000 0.000000 10 0 3 0 0 4 3 0 0 1474 21 97 77 0 146 1016 78 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8537 4406 12943 63 0 63 0.00732558 0 0.00484392 0.00732558 0 0.00484392 81 transition A G A>G 0.000 -0.279 255 PASS . 0.0018 0.0028 . 0.004 . 0.0018 0.0014 . 0.004 0.0041 . . . . . 0.4814815 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . 0.0048 0.0073 . 0.0048 0.0073 . 0.0389 . . . . . . . . 5.343e-03 . . . 0.0005 0.0052 0.0033 0 0.0024 0.0079 0.0028 0.0048 0.0006 0.0049 0.0033 0 0.0032 0.0068 0.0043 0.0049 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.56 0.17 182 ENSG00000170581 STAT2 STAT2 . . . . . . 301 0.00463248 64976 292 0.0048678 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2066814 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv482992 0.004844 . . . . . 0.0008 0.0052 0.0029 0.0074 0 0.0031 0.0076 0.0055 0.0050 0.0010 0.0068 0.0072 0.0132 0 0.0026 0.0116 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0073 rs2066814 rs2066814 rs2066814 rs2066814 1 1538 10 1/0 0,245,255 +rs774081004 12 56826251 C T - TIMELESS 11813 Timeless homolog (Drosophila) NM_003920.3 -1 5138 3627 NP_003911.2 Q9UNS1 substitution missense exon GRCh37 56826251 56826251 Chr12(GRCh37):g.56826251C>T 589 589 NM_003920.3:c.589G>A p.Gly197Ser p.Gly197Ser 7 603887 58 3' 74.419 4.38495 0.071073 3.81352 74.419 4.38495 0.071073 3.59213 0 Timeless protein rs774081004 yes no Frequency 1 C 0.000000 0 0.000137 0.000000 0.000000 0.000000 0.000000 0.000065 0.000253 0.000116 0.000155 0.000253 38 0 0 0 0 2 32 3 1 277016 24028 34416 10146 18870 30782 126516 25790 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 0 0 0 0 2 32 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 1.000 5.774 G Gly GGC 0.342 S Ser AGC 0.243 197 11 10 C. elegans 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 126.46 46.70 Tolerated 0.07 II.84 good 3.426E-1 0.02273 255 PASS . . . . . . . . . . . . . TIMELESS:NM_003920:exon7:c.G589A:p.G197S . . 0.51428574 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.954 . @ . . . . . 1 0.963 . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G197S|TIMELESS|mRNA|CODING|NM_003920|NM_003920.ex.7) . . . . . . . 0.7557 0.740 0.756 c . . . . . 1.263e-04 . . . 0 8.82e-05 0 0 0 0.0001 0.0014 6.06e-05 0 0.0001 0 0 0.0002 0.0002 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.646 . . exonic exonic exonic . . 0.753 @ . . . . . . ENSG00000111602 TIMELESS TIMELESS . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.585 0.039 . . 37 . 0.764 . . 0.772 . . . 0.867 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.804 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.574 . . . . . 0.896 . 0.779 . HET 0.05 rs774081004 . . . . . . . . . . . . 18.1497 . . V.32 V.32 . 0.040000 . . . Name\x3dnsv482992 . . 0.912 . . V.32 0 0.0001 0 0 0 8.969e-05 0.0003 0.0002 6.497e-05 0 0.0001 0 0 0 0.0003 0.0002 0 . . 0.830 . 2.675 2.675000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.750 0.996 . 0.819 . 0.490 2.675 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs11171845 12 56826758 A G - TIMELESS 11813 Timeless homolog (Drosophila) NM_003920.3 -1 5138 3627 NP_003911.2 Q9UNS1 substitution intron GRCh37 56826758 56826758 Chr12(GRCh37):g.56826758A>G 531+52 531+52 NM_003920.3:c.531+52T>C p.? p.? 6 6 603887 52 5' 90.3122 9.15773 0.851234 7.04347 90.3122 9.15773 0.851234 7.11542 0 rs11171845 yes no Frequency/1000G 2 A 0.000000 0 0.009503 0.003848 0.005172 0.014019 0.000000 0.000000 0.007311 0.064286 0.025237 0.064286 210 27 3 3 0 0 80 81 16 22098 7016 580 214 1452 0 10942 1260 634 0.066667 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.148148 0.125000 14 0 0 0 0 0 0 12 2 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.8235294 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||TIMELESS|mRNA|CODING|NM_003920|) . . . . . . . -0.4434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.06 182 ENSG00000111602 TIMELESS TIMELESS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11171845 0.304 0.268 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv482992 . . . . . . . . . . . . . . . 0.0038 0.0095 0.0052 0.0140 0 0.0643 0.0073 0.0252 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.3 rs11171845 rs11171845 rs11171845 rs11171845 1 1538 10 1/0 0,255,255 +rs535153369 12 57032245 C T - ATP5B 830 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide NM_001686.3 -1 1843 1590 NP_001677.2 P06576 substitution intron GRCh37 57032245 57032245 Chr12(GRCh37):g.57032245C>T 1490-38 1490-38 NM_001686.3:c.1490-38G>A p.? p.? 10 9 102910 -38 3' 80.7658 X.24 0.706298 X.65 80.7658 X.24 0.706298 10.726 0 rs535153369 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000218 0.000066 0.000032 0.000000 0.000000 0.001388 0.000056 0.000000 0.000578 0.001388 51 1 1 0 0 40 6 0 3 233754 15074 31502 9512 16542 28812 108100 19024 5188 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 1 1 0 0 40 6 0 3 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition G A G>A 0.000 -2.619 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.5151515 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.4357 . . . . . . . . 2.052e-04 . . . 0 0.0003 0 0 0 0 0 0.0015 0 0.0002 0 0 0 1.846e-05 0 0.0015 . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000110955 ATP5B ATP5B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535153369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.634e-05 0.0002 3.174e-05 0 0 0 5.55e-05 0.0006 0.0014 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs56743414 12 57111939 T G - NACA 7629 Nascent polypeptide-associated complex alpha subunit NM_001113203.2 -1 3171 2778 NP_001106674.2 substitution intron GRCh37 57111939 57111939 Chr12(GRCh37):g.57111939T>G 1864+1382 1864+1382 NM_001113203.2:c.1864+1382A>C p.? p.? 4 4 601234 1382 5' 76.2121 VIII.38 0.921563 2.22888 76.2121 VIII.38 0.921563 2.22888 0 Cryptic Acceptor Strongly Activated 57111925 1.9e-05 64.0074 2.0854 6.7e-05 66.635 rs56743414 yes no Frequency/1000G 2 0.000000 0 0.001001 0.001006 0.002339 0.003817 0.003601 0.000447 0.000393 0.001514 0.002786 0.003817 44 6 5 3 7 1 9 11 2 43954 5962 2138 786 1944 2238 22902 7266 718 0.000364 0.000000 0.000935 0.000000 0.002058 0.000000 0.000175 0.000826 0.000000 8 0 1 0 2 0 2 3 0 28 6 3 3 3 1 5 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -3.104 255 PASS 0.1 0.16 0.26 0.2 0.13 . . . . . . ENSG00000196531:ENST00000454682:exon3:c.A3375C:p.A1125A . . . . 0.32894737 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . -0.7050 . . . . . . . . . . . . 0.0002 0.0004 0.0008 0 0.0009 0.0005 0 0.0004 0.0002 0.0003 0.0008 0 0.0005 0.0003 0 0.0004 synonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.29 0.17 182 ENSG00000196531 NACA NACA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56743414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0019 0.0027 0.0037 0.0011 0.0002 0 0.0004 0.0064 0.0080 0.0192 0.0312 0 0.0147 0.0057 0.0278 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 . rs56743414 rs56743414 rs56743414 1 1538 10 1/0 0,255,255 +rs58668145 12 57111948 G T - NACA 7629 Nascent polypeptide-associated complex alpha subunit NM_001113203.2 -1 3171 2778 NP_001106674.2 substitution intron GRCh37 57111948 57111948 Chr12(GRCh37):g.57111948G>T 1864+1373 1864+1373 NM_001113203.2:c.1864+1373C>A p.? p.? 4 4 601234 1373 5' 76.2121 VIII.38 0.921563 2.22888 76.2121 VIII.38 0.921563 2.22888 0 rs58668145 yes no Frequency/1000G 2 0.000000 0 0.496006 0.245100 0.680000 0.612100 0.501000 0.538900 0.000510 0.000000 0.001370 0.002604 0.013378 0.000000 0.000000 0.000187 0.000000 0.013378 11 0 1 1 8 0 0 1 0 21570 3300 730 384 598 724 10198 5358 278 0.181818 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 0.000000 0.000000 2 0 0 0 2 0 0 0 0 7 0 1 1 4 0 0 1 0 0 0 0 0 0 0 0 0 0 PASS 424 Exomes transversion C A C>A 0.504 0.448 187 PASS . . . . . 0.25 0.5 0.54 0.61 0.5 0.68 ENSG00000196531:ENST00000454682:exon3:c.C3366A:p.H1122Q . . . . 0.12765957 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.105 . @ . . . . . 2 0.084 . . 94.0 . . . . . . . . . . -0.9309 -0.996 -0.931 c . . . . . . . . . 0.0003 0.0007 0 0.0024 0 0.0010 0 0 0.0004 0.0006 0 0.0017 0 0.0008 0 0 nonsynonymous_SNV . . 0.411 . . exonic intronic intronic . . 0.247 0.4960 . . . 0.24 0.12 182 ENSG00000196531 NACA NACA . . . 0.799 0.241 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.270 . . 0.226 . . . . 0.305 . . . . . . . . . . . . . . . 0.016 . . . . . . 0 . . 0.067 . . 0.013 . . . . . . 0 0.010 . . . . . 0.387 . 0.005 . LowAF 0.56 rs58668145 . . . . . . . . . . . . IX.51 . ENST00000454682 II.85 1.IX . . E9PAV3 . . . . . 0.195 . . . 0 0.0005 0.0014 0.0026 0.0134 0.0002 0 0 0 . . . . . . . . . . 0.093 . 0.174 0.174000 . . . . . 1.0E-187 0.000 0.063 . 0.043 0.002 . 0.091 . 0.037 0.174 -0.041 . . rs58668145 rs58668145 rs58668145 1 1538 10 1/0 0,231,255 +. 12 57472588 C A - NEMP1 29001 Nuclear envelope integral membrane protein 1 NM_001130963.1 -1 5617 1335 NP_001124435.1 O14524 substitution upstream GRCh37 57472588 57472588 Chr12(GRCh37):g.57472588C>A -60 -60 NM_001130963.1:c.-60G>T p.? p.? 1 616496 -187 5' 71.4999 10.0514 0.891049 X.53 71.4999 10.0514 0.891049 X.53 0 transversion G T G>T 0.969 2.465 255 PASS . . . . . . . . . . . . . . . . 0.46478873 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 71.0 . . . . . . . . . . II.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . . . . ENSG00000166881 TMEM194A NEMP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832428 . . . . . 4.IX . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs559211226 12 57940728 G T - DCTN2 2712 Dynactin subunit 2 NM_001348065.1 -1 2179 1341 NP_001334994.1 substitution upstream GRCh37 57940728 57940728 Chr12(GRCh37):g.57940728G>T -285 -285 NM_001348065.1:c.-285C>A p.? p.? 1 607376 -450 5' 90.3122 9.15773 0.994752 6.05621 90.3122 9.15773 0.994752 6.05621 0 rs559211226 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000800 0.005100 0.000000 0.006000 0.002900 0.009155 0.002189 0.007160 0.019868 0.000000 0.000000 0.010464 0.024411 0.010309 0.024411 282 19 6 6 0 0 156 85 10 30802 8680 838 302 1622 0 14908 3482 970 0.003546 0.000000 0.000000 0.000000 0.000000 0.000000 0.006410 0.000000 0.000000 1 0 0 0 0 0 1 0 0 280 19 6 6 0 0 154 85 10 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion C A C>A 0.921 0.932 255 PASS . . . . . 0.0008 0.0028 0.0029 . 0.006 0.0051 . . . . . 0.33333334 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . II.69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0028 . . . . . . ENSG00000175203 DCTN2 DCTN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs559211226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VII . . . . . . . . . 0.0022 0.0092 0.0072 0.0199 0 0.0244 0.0105 0.0103 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs192960012 12 57969558 C T - KIF5A 6323 Kinesin family member 5A NM_004984.3 1 5831 3099 NP_004975.2 Q12840 substitution intron GRCh37 57969558 57969558 Chr12(GRCh37):g.57969558C>T 2023+18 2023+18 NM_004984.3:c.2023+18C>T p.? p.? 17 17 602821 18 5' 81.3514 7.13226 0.924867 4.83424 81.3514 7.13226 0.924867 4.65448 0 rs192960012 yes no Frequency/1000G 2 C benign 0.000000 0 0.001997 0.000800 0.001000 0.000000 0.006000 0.002900 0.009237 0.001207 0.002092 0.003842 0.000000 0.001722 0.012697 0.027482 0.008045 0.027482 2559 29 72 39 0 53 1608 706 52 277038 24022 34414 10150 18868 30782 126648 25690 6464 0.000173 0.000000 0.000058 0.000000 0.000000 0.000065 0.000237 0.000545 0.000000 24 0 1 0 0 1 15 7 0 2511 29 70 39 0 51 1578 692 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8509 4399 12908 91 7 98 0.0105814 0.00158874 0.00753498 0.0105814 0.00158874 0.00753498 125 RCV000439493.1 germline clinical testing Benign 1 not specified transition C T C>T 0.016 1.013 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.002 0.0029 . 0.006 0.001 . . . . . 0.46835443 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||KIF5A|mRNA|CODING|NM_004984|) 0.0016 0.0075 0.011 0.0016 0.0075 0.011 . 0.2826 . . . . . . . . 9.771e-03 . . . 0.0013 0.0059 0.0020 0 0.0237 0.0090 0.0084 0.0014 0.0011 0.0098 0.0021 0 0.0257 0.0149 0.0086 0.0014 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.51 0.51 182 ENSG00000155980 KIF5A KIF5A . . . . . . 783 0.0120506 64976 773 0.0128863 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192960012 . . . . . . . . . . . . . . . . . . . . . . . 0.007535 . . . . 2.III 0.0010 0.0094 0.0020 0.0040 0 0.0280 0.0131 0.0078 0.0017 0.0015 0.0083 0.0048 0 0 0.0243 0.0098 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs192960012 rs192960012 1 1538 10 1/0 0,255,255 +rs189141503 12 57976829 T C - KIF5A 6323 Kinesin family member 5A NM_004984.3 1 5831 3099 NP_004975.2 Q12840 substitution intron GRCh37 57976829 57976829 Chr12(GRCh37):g.57976829T>C 3021-55 3021-55 NM_004984.3:c.3021-55T>C p.? p.? 28 27 602821 -55 3' 91.8586 9.21678 0.955444 3.32388 91.8586 9.21678 0.955444 2.78952 0 57976831 -24.7594 rs189141503 yes no Frequency/1000G 2 T 0.000000 0 0.004193 0.000800 0.010200 0.000000 0.008000 0.002900 0.009635 0.002410 0.007160 0.016556 0.000000 0.000000 0.011344 0.024628 0.010183 0.024628 298 21 6 5 0 0 170 86 10 30930 8712 838 302 1618 0 14986 3492 982 0.003356 0.000000 0.000000 0.000000 0.000000 0.000000 0.005882 0.000000 0.000000 1 0 0 0 0 0 1 0 0 296 21 6 5 0 0 168 86 10 0 0 0 0 0 0 0 0 0 PASS 40 Genomes 3137 1378 4515 45 6 51 0.014142 0.00433526 0.0111695 0.014142 0.00433526 0.0111695 35 transition T C T>C 0.000 -0.924 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.0042 0.0029 . 0.008 0.01 . . . . . 0.4262295 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . INTRON(MODIFIER||||KIF5A|mRNA|CODING|NM_004984|) 0.0043 0.011 0.014 0.0043 0.011 0.014 . -0.0055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.16 0.12 182 ENSG00000155980 KIF5A KIF5A . . . . . . 904 0.0139128 64976 883 0.0147201 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189141503 . . . . . . . . . . . . . . . . . . . . . . . 0.011170 . . . . . . . . . . . . . . 0.0024 0.0096 0.0072 0.0166 0 0.0246 0.0113 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 . . rs189141503 rs189141503 1 1538 10 1/0 0,255,255 +. 12 58145526 TCA T - CDK4 1773 Cyclin dependent kinase 4 NM_000075.3 -1 2002 912 NP_000066.1 P11802 deletion intron GRCh37 58145527 58145528 Chr12(GRCh37):g.58145527_58145528del -28 -27 NM_000075.3:c.-19-9_-19-8del p.? p.? 2 1 123829 -8 3' 79.3925 0 0.109778 0 0 0 0.181665 0 -0.17258 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243998 15118 33380 9808 17130 30660 110498 21962 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 129 Exomes 8253 4262 12515 1 0 1 0.000121153 0 7.98977e-05 0.000121153 0 7.98977e-05 30 TG 255 Pass . . . . . . . . . . . . . . . . 0.59322035 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 59 . . . . 0.0001 0.0001 . 0.0001 0.0001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . . . . . . . . ENSG00000135446 CDK4 CDK4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000080 . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . . . 1 1538 10 1.I 0,12,23 +rs760369242 12 58200246 G T - AVIL 14188 Advillin NM_006576.3 -1 2995 2460 NP_006567.3 O75366 substitution missense exon GRCh37 58200246 58200246 Chr12(GRCh37):g.58200246G>T 1568 1568 NM_006576.3:c.1568C>A p.Ser523Tyr p.Ser523Tyr 13 613397 77 3' 90.3358 XII.22 0.998698 11.1128 90.3358 XII.22 0.998698 X.54 0 Gelsolin rs760369242 yes no Frequency 1 G 0.000000 0 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000134 0.000000 0.000000 0.000134 17 0 0 0 0 0 17 0 0 277176 24032 34420 10146 18870 30782 126670 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 0 0 0 0 17 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM2156252 Central nervous system 0.000416 2405 transversion C A C>A 0.685 1.093 S Ser TCT 0.185 Y Tyr TAT 0.438 523 14 11 Fruitfly -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 254.01 4.V Tolerated 0.11 III.48 good 1.666E-1 0.08864 255 PASS . . . . . . . . . . . . . AVIL:NM_006576:exon13:c.C1568A:p.S523Y . . 0.44 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.168 . @ . . . . . 1 0.160 . . 75.0 . . . . . . . . . . -0.7829 -0.617 -0.783 c . . . . . 3.157e-05 . . . 0 2.208e-05 0 0 0 4.756e-05 0 0 0 9.418e-06 0 0 0 1.84e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.372 @ . . . 0.65 0.42 182 ENSG00000135407 AVIL AVIL . . . 0.261 0.188 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.037 0.002 . . 37 . 0.064 . . 0.256 . . . 0.130 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.026 . . 0.127 . . . . . . 1 0.010 . . . . . 0.469 . 0.652 . HET 1 rs760369242 . . . . . . ID\x3dCOSM2156252\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . 11.045 . . V.16 III.34 . 1.000000 . . . Name\x3dnsv470297 . . 0.223 . . III.34 0 2.843e-05 0 0 0 0 6.269e-05 0 0 0 0.0003 0 0 0 0 0.0007 0 . . 0.465 . 0.757 0.757000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.888 0.998 . 0.224 . 0.713 0.757 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs77928566 12 58217345 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217345 58217345 Chr12(GRCh37):g.58217345G>A *40 *40 NM_005730.3:c.*40C>T p.? p.? 8 608711 166 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs77928566 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 238350 14732 33178 9660 17020 30246 108358 19826 5330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 62 Exomes transition C T C>T 0.992 3.918 254 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . I.44 . . . . . . . . 7.927e-06 . . . . . . . . . . . 0 1.03e-05 0 0 0 1.982e-05 0 0 . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.63 0.6 182 ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*40C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77928566 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . V.26 0 4.196e-06 0 0 0 0 9.229e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs77928566 rs77928566 1 1538 10 1/0 0,241,255 +rs77928566 12 58217345 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217345 58217345 Chr12(GRCh37):g.58217345G>A *1047 *1047 NR_029847.1:n.*1047C>T p.? p.? 1 613057 rs77928566 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 238350 14732 33178 9660 17020 30246 108358 19826 5330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 62 Exomes transition C T C>T 0.992 3.918 254 PASS . . . . . . . . . . . . . . . . 0.3181818 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . . . . . . . . . I.44 . . . . . . . . 7.927e-06 . . . . . . . . . . . 0 1.03e-05 0 0 0 1.982e-05 0 0 . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.63 0.6 182 ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*40C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77928566 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . V.26 0 4.196e-06 0 0 0 0 9.229e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs77928566 rs77928566 1 1538 10 1/0 0,241,255 +rs76037237 12 58217356 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217356 58217356 Chr12(GRCh37):g.58217356G>T *29 *29 NM_005730.3:c.*29C>A p.? p.? 8 608711 155 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs76037237 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.228 1.497 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.64 0.61 182 ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*29C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76037237 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . 4.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs76037237 rs76037237 1 1538 10 1/0 0,235,255 +rs76037237 12 58217356 G T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217356 58217356 Chr12(GRCh37):g.58217356G>T *1036 *1036 NR_029847.1:n.*1036C>A p.? p.? 1 613057 rs76037237 yes no Frequency 1 G 0.000000 0 transversion C A C>A 0.228 1.497 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . . . . . . . . . I.20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.64 0.61 182 ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*29C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76037237 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . 4.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs76037237 rs76037237 1 1538 10 1/0 0,235,255 +rs796480697 12 58217364 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217364 58217364 Chr12(GRCh37):g.58217364G>A *21 *21 NM_005730.3:c.*21C>T p.? p.? 8 608711 147 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs796480697 no no 0 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000033 0.000009 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 242842 15030 33436 9782 17164 30570 110148 21292 5420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 66 Exomes transition C T C>T 0.000 -0.844 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.095 . @ . . . . . 3 0.152 . . 124.0 . . . . . . . . . . -0.1798 -0.118 -0.180 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.021 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*21C>T 1.000 0.425 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.593 . . . HET 0.05 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.185 . . . 0 8.236e-06 0 0 0 0 9.079e-06 0 3.271e-05 . . . . . . . . . . 0.036 . . . . . . . . 1.0E-232 0.000 0.063 . 0.221 0.052 . 0.063 . 0.015 . -0.898 . . . . . 1 1538 10 1/0 0,230,255 +rs796480697 12 58217364 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217364 58217364 Chr12(GRCh37):g.58217364G>A *1028 *1028 NR_029847.1:n.*1028C>T p.? p.? 1 613057 rs796480697 no no 0 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000033 0.000009 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 242842 15030 33436 9782 17164 30570 110148 21292 5420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 66 Exomes transition C T C>T 0.000 -0.844 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.095 . @ . . . . . 3 0.152 . . 124.0 . . . . . . . . . . -0.1798 -0.118 -0.180 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.021 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*21C>T 1.000 0.425 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.593 . . . HET 0.05 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.185 . . . 0 8.236e-06 0 0 0 0 9.079e-06 0 3.271e-05 . . . . . . . . . . 0.036 . . . . . . . . 1.0E-232 0.000 0.063 . 0.221 0.052 . 0.063 . 0.015 . -0.898 . . . . . 1 1538 10 1/0 0,230,255 +rs758621065 12 58217366 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217366 58217366 Chr12(GRCh37):g.58217366C>T *19 *19 NM_005730.3:c.*19G>A p.? p.? 8 608711 145 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs758621065 yes no Frequency 1 C 0.000000 0 0.000051 0.000042 0.000000 0.000000 0.000000 0.000131 0.000072 0.000000 0.000000 0.000131 14 1 0 0 0 4 9 0 0 274298 23796 34298 10098 18808 30634 125298 24942 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 0 0 0 4 9 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.008 -0.521 228 PASS . . . . . . . . . . . . . . . . 0.23770492 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.131 . @ . . . . . 3 0.138 . . 122.0 . . . . . . . . . . 0.0620 -0.083 0.062 n . . . . . 5.549e-05 . . . 0 7.096e-05 0 0 0 7.589e-05 0 0.0002 0 5.065e-05 0 0 0 3.903e-05 0 0.0002 . . . . . . UTR3 UTR3 UTR3 . . 0.043 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*19G>A 0.996 0.347 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.395 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.153 . . . HET 1 rs758621065 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.090 . . . 0 4.931e-05 0 0 0 0 7.252e-05 0 0.0001 0.0001 6.463e-05 0 0 0 0 6.672e-05 0 . . 0.036 . . . . . . . . 1.0E-228 0.000 0.063 . 0.223 0.072 . 0.085 . 0.032 . -0.604 . . . . . 1 1538 10 1/0 0,229,255 +rs758621065 12 58217366 C T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217366 58217366 Chr12(GRCh37):g.58217366C>T *1026 *1026 NR_029847.1:n.*1026G>A p.? p.? 1 613057 rs758621065 yes no Frequency 1 C 0.000000 0 0.000051 0.000042 0.000000 0.000000 0.000000 0.000131 0.000072 0.000000 0.000000 0.000131 14 1 0 0 0 4 9 0 0 274298 23796 34298 10098 18808 30634 125298 24942 6424 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 0 0 0 4 9 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.008 -0.521 228 PASS . . . . . . . . . . . . . . . . 0.23770492 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.131 . @ . . . . . 3 0.138 . . 122.0 . . . . . . . . . . 0.0620 -0.083 0.062 n . . . . . 5.549e-05 . . . 0 7.096e-05 0 0 0 7.589e-05 0 0.0002 0 5.065e-05 0 0 0 3.903e-05 0 0.0002 . . . . . . UTR3 UTR3 UTR3 . . 0.043 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*19G>A 0.996 0.347 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.395 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.153 . . . HET 1 rs758621065 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.090 . . . 0 4.931e-05 0 0 0 0 7.252e-05 0 0.0001 0.0001 6.463e-05 0 0 0 0 6.672e-05 0 . . 0.036 . . . . . . . . 1.0E-228 0.000 0.063 . 0.223 0.072 . 0.085 . 0.032 . -0.604 . . . . . 1 1538 10 1/0 0,229,255 +rs796202970 12 58217370 T G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217370 58217370 Chr12(GRCh37):g.58217370T>G *15 *15 NM_005730.3:c.*15A>C p.? p.? 8 608711 141 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Cryptic Acceptor Strongly Activated 58217367 2.47081 0.055566 67.5586 4.82335 0.71492 77.526 rs796202970 no no 0 T 0.000000 0 transversion A C A>C 0.976 -0.198 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.246 . @ . . . . . 3 0.081 . . 128.0 . . . . . . . . . . 0.7642 0.037 0.764 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.108 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*15A>C 0.984 0.306 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.007 . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.250 . . . . . . . . . . . . . . . . . . . . . . 0.036 . . . . . . . . 1.0E-232 0.899 0.312 . 0.307 0.343 . 0.051 . 0.231 . -0.013 . . . . . 1 1538 10 1/0 0,229,255 +rs796202970 12 58217370 T G - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217370 58217370 Chr12(GRCh37):g.58217370T>G *1022 *1022 NR_029847.1:n.*1022A>C p.? p.? 1 613057 rs796202970 no no 0 T 0.000000 0 transversion A C A>C 0.976 -0.198 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.246 . @ . . . . . 3 0.081 . . 128.0 . . . . . . . . . . 0.7642 0.037 0.764 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.108 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*15A>C 0.984 0.306 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.007 . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.250 . . . . . . . . . . . . . . . . . . . . . . 0.036 . . . . . . . . 1.0E-232 0.899 0.312 . 0.307 0.343 . 0.051 . 0.231 . -0.013 . . . . . 1 1538 10 1/0 0,229,255 +rs796514979 12 58217380 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217380 58217380 Chr12(GRCh37):g.58217380G>A *5 *5 NM_005730.3:c.*5C>T p.? p.? 8 608711 131 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Cryptic Acceptor Strongly Activated 58217367 2.47081 0.055566 67.5586 3.41286 0.169536 70.6742 rs796514979 no no 0 G 0.000000 0 transition C T C>T 0.055 0.286 200 PASS . . . . . . . . . . . . . . . . 0.16030534 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 131.0 . . . . . . . . . . 1.0201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*5C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796514979 12 58217380 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217380 58217380 Chr12(GRCh37):g.58217380G>A *1012 *1012 NR_029847.1:n.*1012C>T p.? p.? 1 613057 rs796514979 no no 0 G 0.000000 0 transition C T C>T 0.055 0.286 200 PASS . . . . . . . . . . . . . . . . 0.16030534 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 131.0 . . . . . . . . . . 1.0201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*5C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796646762 12 58217381 C A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution 3'UTR GRCh37 58217381 58217381 Chr12(GRCh37):g.58217381C>A *4 *4 NM_005730.3:c.*4G>T p.? p.? 8 608711 130 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Cryptic Acceptor Strongly Activated 58217367 2.47081 0.055566 67.5586 3.13351 0.102882 70.6742 rs796646762 no no 0 C 0.000000 0 transversion G T G>T 0.071 0.044 229 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.368 . @ . . . . . 3 0.163 . . 125.0 . . . . . . . . . . 0.7402 0.005 0.740 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.219 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*4G>T 0.986 0.310 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.028 . . . HET 0.08 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.036 . . . . . . . . 1.0E-229 0.000 0.063 . 0.552 0.712 . 0.126 . 0.148 . -0.677 . . . . . 1 1538 10 1/0 0,229,255 +rs796646762 12 58217381 C A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217381 58217381 Chr12(GRCh37):g.58217381C>A *1011 *1011 NR_029847.1:n.*1011G>T p.? p.? 1 613057 rs796646762 no no 0 C 0.000000 0 transversion G T G>T 0.071 0.044 229 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.368 . @ . . . . . 3 0.163 . . 125.0 . . . . . . . . . . 0.7402 0.005 0.740 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . 0.219 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . NM_005730:c.*4G>T 0.986 0.310 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.028 . . . HET 0.08 . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . 0.095 . . . . . . . . . . . . . . . . . . . . . . 0.036 . . . . . . . . 1.0E-229 0.000 0.063 . 0.552 0.712 . 0.126 . 0.148 . -0.677 . . . . . 1 1538 10 1/0 0,229,255 +. 12 58217388 AG A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 deletion frameshift exon GRCh37 58217389 58217389 Chr12(GRCh37):g.58217389del 812 812 NM_005730.3:c.812del p.Pro271Leufs*52 p.Pro271Leufs*52 8 608711 122 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs796385100 no no 0 G 0.000000 0 C 255 Pass . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.812delC:p.P271fs . . 0.23134328 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,64 +. 12 58217388 AG A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 deletion downstream GRCh37 58217389 58217389 Chr12(GRCh37):g.58217389del *1003 *1003 NR_029847.1:n.*1003del p.? p.? 1 613057 rs796385100 no no 0 G 0.000000 0 C 255 Pass . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.812delC:p.P271fs . . 0.23134328 . . . 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,64 +rs745742336 12 58217396 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217396 58217396 Chr12(GRCh37):g.58217396G>A 805 805 NM_005730.3:c.805C>T p.Arg269Trp p.Arg269Trp 8 608711 115 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Cryptic Acceptor Strongly Activated 58217384 0.004834 62.5049 0.622397 0.007436 65.8195 rs745742336 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 245236 15208 33540 9824 17236 30740 111152 22074 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes transition C T C>T 1.000 2.223 R Arg CGG 0.207 W Trp TGG 1.000 269 11 1 -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 247.14 74.61 Deleterious 0.02 III.39 good 7.999E-2 0.1616 226 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C805T:p.R269W . . 0.22962964 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.954 . @ . . . . . 1 0.990 . . 135.0 . . . . . . . . . . 0.6811 0.651 0.681 c . . . . . 7.921e-06 . . . 0 1.148e-05 0 0 0 0 0 6.217e-05 0 9.804e-06 0 0 0 0 0 6.253e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.348 . . exonic exonic exonic . . 0.504 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.467 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.506 0.028 . . 37 . 0.559 . . 0.581 . . . 0.786 0.506 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.753 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 1 0.784 . . . . . 0.451 . 0.653 . HET 0.27 rs745742336 . . . . . . . . . . . . X.48 . . V.26 4.III . 0.000000 . . . Name\x3dnsv726 . . 0.724 . . 4.III 0 4.078e-06 0 0 0 0 0 0 3.253e-05 . . . . . . . . . . 0.854 . 2.729 2.729000 . . 0.000000 . . 1.0000000000000001E-226 1.000 0.715 . 0.888 0.999 . 0.276 . 0.713 2.729 -0.045 . . . . . 1 1538 10 1/0 0,224,255 +rs745742336 12 58217396 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217396 58217396 Chr12(GRCh37):g.58217396G>A *996 *996 NR_029847.1:n.*996C>T p.? p.? 1 613057 rs745742336 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 245236 15208 33540 9824 17236 30740 111152 22074 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 71 Exomes transition C T C>T 1.000 2.223 226 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C805T:p.R269W . . 0.22962964 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.954 . @ . . . . . 1 0.990 . . 135.0 . . . . . . . . . . 0.6811 0.651 0.681 c . . . . . 7.921e-06 . . . 0 1.148e-05 0 0 0 0 0 6.217e-05 0 9.804e-06 0 0 0 0 0 6.253e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.348 . . exonic exonic exonic . . 0.504 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.467 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.506 0.028 . . 37 . 0.559 . . 0.581 . . . 0.786 0.506 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.753 . . 0 0 0 0 0 0 . 0.899 . . 0.790 . . . . . . 1 0.784 . . . . . 0.451 . 0.653 . HET 0.27 rs745742336 . . . . . . . . . . . . X.48 . . V.26 4.III . 0.000000 . . . Name\x3dnsv726 . . 0.724 . . 4.III 0 4.078e-06 0 0 0 0 0 0 3.253e-05 . . . . . . . . . . 0.854 . 2.729 2.729000 . . 0.000000 . . 1.0000000000000001E-226 1.000 0.715 . 0.888 0.999 . 0.276 . 0.713 2.729 -0.045 . . . . . 1 1538 10 1/0 0,224,255 +rs796238448 12 58217398 A T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217398 58217398 Chr12(GRCh37):g.58217398A>T 803 803 NM_005730.3:c.803T>A p.Leu268Gln p.Leu268Gln 8 608711 113 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 rs796238448 no no 0 A 0.000000 0 transversion T A T>A 1.000 2.707 L Leu CTG 0.404 Q Gln CAG 0.744 268 11 2 Frog -2 -2 -4 0 0.89 4.IX 10.V 111 85 113 C0 263.50 0.00 Tolerated 0.53 III.39 good 8.87E-1 0.414 224 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.T803A:p.L268Q . . 0.22627737 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.372 . @ . . . . . 1 0.274 . . 137.0 . . . . . . . . . . -0.1012 0.084 -0.101 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . 0.734 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.208 0.008 . . 37 . 0.301 . . 0.072 . . . 0.321 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.279 . . 0.297 . . . . . . 1 0.330 . . . . . 0.655 . 0.721 . HET 0.1 . . . . . . . . . . . . . 14.2626 . . V.26 V.26 . 0.610000 . . . Name\x3dnsv726 . . 0.527 . . V.26 . . . . . . . . . . . . . . . . . . . 0.854 . 2.202 2.202000 . . 0.610000 . . 1.0E-224 1.000 0.715 . 0.888 1.000 . 0.554 . 0.960 2.202 1.062 . . . . . 1 1538 10 1/0 0,224,255 +rs796238448 12 58217398 A T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217398 58217398 Chr12(GRCh37):g.58217398A>T *994 *994 NR_029847.1:n.*994T>A p.? p.? 1 613057 rs796238448 no no 0 A 0.000000 0 transversion T A T>A 1.000 2.707 224 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.T803A:p.L268Q . . 0.22627737 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.372 . @ . . . . . 1 0.274 . . 137.0 . . . . . . . . . . -0.1012 0.084 -0.101 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . 0.734 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.208 0.008 . . 37 . 0.301 . . 0.072 . . . 0.321 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.279 . . 0.297 . . . . . . 1 0.330 . . . . . 0.655 . 0.721 . HET 0.1 . . . . . . . . . . . . . 14.2626 . . V.26 V.26 . 0.610000 . . . Name\x3dnsv726 . . 0.527 . . V.26 . . . . . . . . . . . . . . . . . . . 0.854 . 2.202 2.202000 . . 0.610000 . . 1.0E-224 1.000 0.715 . 0.888 1.000 . 0.554 . 0.960 2.202 1.062 . . . . . 1 1538 10 1/0 0,224,255 +rs113750199 12 58217412 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217412 58217412 Chr12(GRCh37):g.58217412G>A 789 789 NM_005730.3:c.789C>T p.Thr263= p.Thr263Thr 8 608711 99 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 Dullard phosphatase domain, eukaryotic rs113750199 no no 0 G 0.000000 0 transition C T C>T 1.000 1.820 T Thr ACC 0.361 T Thr ACT 0.243 263 210 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C789T:p.T263T . . 0.18461539 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . I.58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.27 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs113750199 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . IV.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs113750199 rs113750199 1 1538 10 1/0 0,222,255 +rs113750199 12 58217412 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217412 58217412 Chr12(GRCh37):g.58217412G>A *980 *980 NR_029847.1:n.*980C>T p.? p.? 1 613057 rs113750199 no no 0 G 0.000000 0 transition C T C>T 1.000 1.820 210 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C789T:p.T263T . . 0.18461539 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . I.58 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.27 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs113750199 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . IV.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs113750199 rs113750199 1 1538 10 1/0 0,222,255 +rs768899988 12 58217421 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217421 58217421 Chr12(GRCh37):g.58217421G>A 780 780 NM_005730.3:c.780C>T p.Asp260= p.Asp260Asp 8 608711 90 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs768899988 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245770 15266 33572 9840 17238 30774 111410 22208 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 72 Exomes COSM5765676 Large intestine 0.000448 2231 transition C T C>T 1.000 0.851 D Asp GAC 0.539 D Asp GAT 0.461 260 184 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C780T:p.D260D . . 0.12230216 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . . . . . . . . . 1.1835 . . . . . . . . 7.910e-06 . . . . . . . . . . . 0 9.633e-06 0 0 0 0 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs768899988 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . 0 8.138e-06 0 0 0 0 1.795e-05 0 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs768899988 12 58217421 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217421 58217421 Chr12(GRCh37):g.58217421G>A *971 *971 NR_029847.1:n.*971C>T p.? p.? 1 613057 rs768899988 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245770 15266 33572 9840 17238 30774 111410 22208 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 72 Exomes COSM5765676 Large intestine 0.000448 2231 transition C T C>T 1.000 0.851 184 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C780T:p.D260D . . 0.12230216 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . . . . . . . . . 1.1835 . . . . . . . . 7.910e-06 . . . . . . . . . . . 0 9.633e-06 0 0 0 0 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs768899988 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . 0 8.138e-06 0 0 0 0 1.795e-05 0 0 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs797007497 12 58217422 T C - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217422 58217422 Chr12(GRCh37):g.58217422T>C 779 779 NM_005730.3:c.779A>G p.Asp260Gly p.Asp260Gly 8 608711 89 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 10.952 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs797007497 no no 0 T 0.000000 0 transition A G A>G 1.000 4.644 D Asp GAC 0.539 G Gly GGC 0.342 260 11 7 Frog -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 221.85 III.24 Tolerated 0.14 III.61 good 4.008E-2 0.01046 219 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.A779G:p.D260G . . 0.21167883 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.615 . @ . . . . . 1 0.909 . . 137.0 . . . . . . . . . . 0.9156 0.828 0.916 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.734 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.638 0.049 . . 37 . 0.671 . . 0.805 . . . 0.912 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.829 . . 0 0 0 0 0 0 . 0.451 . . 0.604 . . . . . . 1 0.721 . . . . . 0.655 . 0.931 . HET 0.01 . . . . . . . . . . . . . 14.2626 . . V.26 V.26 . 0.000000 . . . Name\x3dnsv726 . . 0.761 . . V.26 . . . . . . . . . . . . . . . . . . . 0.854 . 2.202 2.202000 . . 0.000000 . . 1.0E-219 1.000 0.715 . 0.377 0.991 . 0.871 . 0.807 2.202 0.991 . . . . . 1 1538 10 1/0 0,222,255 +rs797007497 12 58217422 T C - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217422 58217422 Chr12(GRCh37):g.58217422T>C *970 *970 NR_029847.1:n.*970A>G p.? p.? 1 613057 rs797007497 no no 0 T 0.000000 0 transition A G A>G 1.000 4.644 219 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.A779G:p.D260G . . 0.21167883 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.615 . @ . . . . . 1 0.909 . . 137.0 . . . . . . . . . . 0.9156 0.828 0.916 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.734 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.638 0.049 . . 37 . 0.671 . . 0.805 . . . 0.912 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.829 . . 0 0 0 0 0 0 . 0.451 . . 0.604 . . . . . . 1 0.721 . . . . . 0.655 . 0.931 . HET 0.01 . . . . . . . . . . . . . 14.2626 . . V.26 V.26 . 0.000000 . . . Name\x3dnsv726 . . 0.761 . . V.26 . . . . . . . . . . . . . . . . . . . 0.854 . 2.202 2.202000 . . 0.000000 . . 1.0E-219 1.000 0.715 . 0.377 0.991 . 0.871 . 0.807 2.202 0.991 . . . . . 1 1538 10 1/0 0,222,255 +rs762231419 12 58217433 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217433 58217433 Chr12(GRCh37):g.58217433G>A 768 768 NM_005730.3:c.768C>T p.Ser256= p.Ser256Ser 8 608711 78 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 X.02 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs762231419 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000149 0.000000 0.000174 0.000000 0.000000 0.000000 0.000000 0.000174 8 0 5 0 3 0 0 0 0 245780 15272 33566 9834 17246 30762 111420 22206 5474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 5 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes COSM1989984 Large intestine 0.000896 2231 transition C T C>T 0.362 -0.924 S Ser AGC 0.243 S Ser AGT 0.149 256 179 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C768T:p.S256S . . 0.11111111 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . 0.8657 . . . . . . . . 1.581e-05 . . . 0 2.249e-05 8.769e-05 0.0002 0 0 0 0 0 1.918e-05 9.043e-05 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs762231419 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . 0 3.255e-05 0.0001 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs762231419 12 58217433 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217433 58217433 Chr12(GRCh37):g.58217433G>A *959 *959 NR_029847.1:n.*959C>T p.? p.? 1 613057 rs762231419 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000149 0.000000 0.000174 0.000000 0.000000 0.000000 0.000000 0.000174 8 0 5 0 3 0 0 0 0 245780 15272 33566 9834 17246 30762 111420 22206 5474 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 5 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes COSM1989984 Large intestine 0.000896 2231 transition C T C>T 0.362 -0.924 179 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C768T:p.S256S . . 0.11111111 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . . . . . . . . . 0.8657 . . . . . . . . 1.581e-05 . . . 0 2.249e-05 8.769e-05 0.0002 0 0 0 0 0 1.918e-05 9.043e-05 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs762231419 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . 0 3.255e-05 0.0001 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796243823 12 58217438 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217438 58217438 Chr12(GRCh37):g.58217438G>T 763 763 NM_005730.3:c.763C>A p.Leu255Met p.Leu255Met 8 608711 73 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 XI.83 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796243823 no no 0 G 0.000000 0 transversion C A C>A 0.961 0.125 L Leu CTG 0.404 M Met ATG 1.000 255 11 10 Baker's yeast 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 234.72 XII.95 Deleterious 0 III.39 bad 7.401E-3 8.665E-5 177 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C763A:p.L255M . . 0.10655738 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.575 . @ . . . . . 1 0.509 . . 122.0 . . . . . . . . . . -0.2226 -0.324 -0.223 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.042 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 0.996 0.345 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.577 0.037 . . 37 . 0.417 . . 0.405 . . . 0.699 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.444 . . 0 0 0 0 0 0 . 0.899 . . 0.782 . . . . . . 1 0.586 . . . . . 0.883 . 0.743 . LowAF 0.02 . . . . . . . . . . . . . 17.77 . . V.26 -3.68 . 0.010000 . . . Name\x3dnsv726 . . 0.549 . . . . . . . . . . . . . . . . . . . . . . 0.854 . -0.994 -0.994000 . . 0.010000 . . 1.0E-177 0.981 0.351 . 0.461 0.986 . 0.383 . 0.041 -0.994 -0.011 . . . . . 1 1538 10 1/0 0,218,255 +rs796243823 12 58217438 G T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217438 58217438 Chr12(GRCh37):g.58217438G>T *954 *954 NR_029847.1:n.*954C>A p.? p.? 1 613057 rs796243823 no no 0 G 0.000000 0 transversion C A C>A 0.961 0.125 177 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.C763A:p.L255M . . 0.10655738 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.575 . @ . . . . . 1 0.509 . . 122.0 . . . . . . . . . . -0.2226 -0.324 -0.223 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.042 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 0.996 0.345 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.577 0.037 . . 37 . 0.417 . . 0.405 . . . 0.699 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.444 . . 0 0 0 0 0 0 . 0.899 . . 0.782 . . . . . . 1 0.586 . . . . . 0.883 . 0.743 . LowAF 0.02 . . . . . . . . . . . . . 17.77 . . V.26 -3.68 . 0.010000 . . . Name\x3dnsv726 . . 0.549 . . . . . . . . . . . . . . . . . . . . . . 0.854 . -0.994 -0.994000 . . 0.010000 . . 1.0E-177 0.981 0.351 . 0.461 0.986 . 0.383 . 0.041 -0.994 -0.011 . . . . . 1 1538 10 1/0 0,218,255 +rs200753070 12 58217439 C G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217439 58217439 Chr12(GRCh37):g.58217439C>G 762 762 NM_005730.3:c.762G>C p.Glu254Asp p.Glu254Asp 8 608711 72 3' 83.113 9.39445 0.943277 10.952 83.113 9.39445 0.943277 X.25 0 NLI interacting factor Dullard phosphatase domain, eukaryotic transversion G C G>C 0.961 0.044 E Glu GAG 0.583 D Asp GAC 0.539 254 11 7 Frog 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 242.39 0.00 Tolerated 0.49 III.39 good 7.371E-1 0.02335 174 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.G762C:p.E254D . . 0.10169491 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.134 . . 118.0 . . . . . . . . . . -0.9892 -0.835 -0.989 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.182 0.0004 . . . 0.58 0.38 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 0.984 0.306 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.078 0.003 . . 37 . 0.058 . . 0.405 . . . 0.153 0.451 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.283 . . 0 0 0 0 0 0 . 0.119 . . 0.188 . . . . . . 1 0.039 . . . . . 0.365 . 0.285 . LowAF 1 . . . . . . . . . . . . . IX.49 . . V.26 0.884 . 1.000000 . . . Name\x3dnsv726 . . 0.270 . . . . . . . . . . . . . . . . . . . . . . 0.854 . 0.236 0.236000 . . 1.000000 . . 1.0E-174 0.005 0.169 . 0.483 0.993 . 0.037 . 0.171 0.236 0.871 . . . . . 1 1538 10 1/0 0,219,255 +rs200753070 12 58217439 C G - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217439 58217439 Chr12(GRCh37):g.58217439C>G *953 *953 NR_029847.1:n.*953G>C p.? p.? 1 613057 transversion G C G>C 0.961 0.044 174 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon8:c.G762C:p.E254D . . 0.10169491 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.134 . . 118.0 . . . . . . . . . . -0.9892 -0.835 -0.989 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.182 0.0004 . . . 0.58 0.38 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 0.984 0.306 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.078 0.003 . . 37 . 0.058 . . 0.405 . . . 0.153 0.451 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.283 . . 0 0 0 0 0 0 . 0.119 . . 0.188 . . . . . . 1 0.039 . . . . . 0.365 . 0.285 . LowAF 1 . . . . . . . . . . . . . IX.49 . . V.26 0.884 . 1.000000 . . . Name\x3dnsv726 . . 0.270 . . . . . . . . . . . . . . . . . . . . . . 0.854 . 0.236 0.236000 . . 1.000000 . . 1.0E-174 0.005 0.169 . 0.483 0.993 . 0.037 . 0.171 0.236 0.871 . . . . . 1 1538 10 1/0 0,219,255 +rs78662830 12 58217705 T G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217705 58217705 Chr12(GRCh37):g.58217705T>G 672 672 NM_005730.3:c.672A>C p.Ile224= p.Ile224Ile 7 608711 -19 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 9.0541 0 Cryptic Acceptor Strongly Activated 58217692 0.721434 6.7e-05 71.4246 I.99 0.000254 71.4246 NLI interacting factor Dullard phosphatase domain, eukaryotic rs78662830 no no 0 T 0.000000 0 COSM4147352|COSM4147352 Thyroid|Large intestine 0.001339|0.000448 747|2231 transversion A C A>C 1.000 1.577 I Ile ATA 0.163 I Ile ATC 0.481 224 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.A672C:p.I224I . . 0.37692308 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . I.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.46 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs78662830 . . . . . . ID\x3dCOSM4147352\x3bOCCURENCE\x3d1(thyroid) . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . III.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78662830 rs78662830 1 1538 10 1/0 0,237,255 +rs78662830 12 58217705 T G - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217705 58217705 Chr12(GRCh37):g.58217705T>G *687 *687 NR_029847.1:n.*687A>C p.? p.? 1 613057 rs78662830 no no 0 T 0.000000 0 COSM4147352|COSM4147352 Thyroid|Large intestine 0.001339|0.000448 747|2231 transversion A C A>C 1.000 1.577 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.A672C:p.I224I . . 0.37692308 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 130.0 . . . . . . . . . . I.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.46 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs78662830 . . . . . . ID\x3dCOSM4147352\x3bOCCURENCE\x3d1(thyroid) . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . III.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78662830 rs78662830 1 1538 10 1/0 0,237,255 +. 12 58217736 AGG A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 deletion frameshift exon GRCh37 58217737 58217738 Chr12(GRCh37):g.58217737_58217738del 639 640 NM_005730.3:c.639_640del p.Leu214Hisfs*24 p.Leu214Hisfs*24 7 608711 -51 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 7.09888 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs77145290 no no 0 0.000000 0 CC 255 Pass . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.639_640del:p.T213fs . . 0.24867725 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77145290 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77145290 rs77145290 1 1538 10 1.I 0,9,60 +. 12 58217736 AGG A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 deletion downstream GRCh37 58217737 58217738 Chr12(GRCh37):g.58217737_58217738del *654 *655 NR_029847.1:n.*654_*655del p.? p.? 1 613057 rs77145290 no no 0 0.000000 0 CC 255 Pass . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.639_640del:p.T213fs . . 0.24867725 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77145290 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77145290 rs77145290 1 1538 10 1.I 0,9,60 +rs192597051 12 58217738 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217738 58217738 Chr12(GRCh37):g.58217738G>A 639 639 NM_005730.3:c.639C>T p.Thr213= p.Thr213Thr 7 608711 -52 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.85626 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs192597051 yes no Frequency 1 G 0.000000 0 COSM5765519 Large intestine 0.000896 2231 transition C T C>T 1.000 0.770 T Thr ACC 0.361 T Thr ACT 0.243 213 254 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C639T:p.T213T . . 0.25 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . I.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.5 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs192597051 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs192597051 rs192597051 1 1538 10 1/0 0,237,255 +rs192597051 12 58217738 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217738 58217738 Chr12(GRCh37):g.58217738G>A *654 *654 NR_029847.1:n.*654C>T p.? p.? 1 613057 rs192597051 yes no Frequency 1 G 0.000000 0 COSM5765519 Large intestine 0.000896 2231 transition C T C>T 1.000 0.770 254 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C639T:p.T213T . . 0.25 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . I.37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.5 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs192597051 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs192597051 rs192597051 1 1538 10 1/0 0,237,255 +rs74568739 12 58217741 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217741 58217741 Chr12(GRCh37):g.58217741C>T 636 636 NM_005730.3:c.636G>A p.Lys212= p.Lys212Lys 7 608711 -55 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 7.93659 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs74568739 no no 0 C 0.000000 0 transition G A G>A 1.000 1.013 K Lys AAG 0.575 K Lys AAA 0.425 212 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G636A:p.K212K . . 0.484375 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.279 . @ . . . . . 2 0.182 . . 192.0 . . . . . . . . . . -0.2398 -0.221 -0.240 c . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic\x3bsplicing exonic\x3bsplicing exonic . . 0.304 @ . . . 0.6 0.39 182 ENSG00000175215\x3bENSG00000175215 CTDSP2\x3bCTDSP2 CTDSP2 ENST00000548823:exon3:c.118-1G>A uc009zqg.3:exon3:c.118-1G>A . 0.999 0.397 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.293 . . . HET . rs74568739 . . . . . . . . . . . . 8.0053 . ENST00000548823 V.18 II.64 . . . . . Name\x3dnsv726 . . 0.271 . . II.64 . . . . . . . . . . . . . . . . . . . 0.522 . 0.364 0.364000 . . . . . 1.0E-255 0.860 0.304 . 0.529 0.998 . 0.109 . 0.134 0.364 0.021 . . . rs74568739 rs74568739 1 1538 10 1/0 0,227,241 +rs74568739 12 58217741 C T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217741 58217741 Chr12(GRCh37):g.58217741C>T *651 *651 NR_029847.1:n.*651G>A p.? p.? 1 613057 rs74568739 no no 0 C 0.000000 0 transition G A G>A 1.000 1.013 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G636A:p.K212K . . 0.484375 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.279 . @ . . . . . 2 0.182 . . 192.0 . . . . . . . . . . -0.2398 -0.221 -0.240 c . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic\x3bsplicing exonic\x3bsplicing exonic . . 0.304 @ . . . 0.6 0.39 182 ENSG00000175215\x3bENSG00000175215 CTDSP2\x3bCTDSP2 CTDSP2 ENST00000548823:exon3:c.118-1G>A uc009zqg.3:exon3:c.118-1G>A . 0.999 0.397 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.293 . . . HET . rs74568739 . . . . . . . . . . . . 8.0053 . ENST00000548823 V.18 II.64 . . . . . Name\x3dnsv726 . . 0.271 . . II.64 . . . . . . . . . . . . . . . . . . . 0.522 . 0.364 0.364000 . . . . . 1.0E-255 0.860 0.304 . 0.529 0.998 . 0.109 . 0.134 0.364 0.021 . . . rs74568739 rs74568739 1 1538 10 1/0 0,227,241 +rs79510860 12 58217744 T C - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217744 58217744 Chr12(GRCh37):g.58217744T>C 633 633 NM_005730.3:c.633A>G p.Arg211= p.Arg211Arg 7 608711 -58 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.85243 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs79510860 no no 0 C 0.000000 0 transition A G A>G 0.992 0.044 R Arg AGA 0.205 R Arg AGG 0.207 211 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.A633G:p.R211R . . 0.48205128 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 195.0 . . . . . . . . . . -0.2002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.43 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79510860 . . . . . . . . . . . . VI.15 . ENST00000550144 V.19 III.31 . . . . . Name\x3dnsv726 . . . . . III.31 . . . . . . . . . . . . . . . . . . . . . 0.328 0.328000 . . . . . 1.0E-255 . . . . . . . . . 0.328 . . . . rs79510860 rs79510860 1 1538 10 1/0 0,226,240 +rs79510860 12 58217744 T C - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217744 58217744 Chr12(GRCh37):g.58217744T>C *648 *648 NR_029847.1:n.*648A>G p.? p.? 1 613057 rs79510860 no no 0 C 0.000000 0 transition A G A>G 0.992 0.044 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.A633G:p.R211R . . 0.48205128 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 195.0 . . . . . . . . . . -0.2002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.43 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79510860 . . . . . . . . . . . . VI.15 . ENST00000550144 V.19 III.31 . . . . . Name\x3dnsv726 . . . . . III.31 . . . . . . . . . . . . . . . . . . . . . 0.328 0.328000 . . . . . 1.0E-255 . . . . . . . . . 0.328 . . . . rs79510860 rs79510860 1 1538 10 1/0 0,226,240 +rs796729342 12 58217762 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217762 58217762 Chr12(GRCh37):g.58217762G>A 615 615 NM_005730.3:c.615C>T p.Arg205= p.Arg205Arg 7 608711 -76 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.28166 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796729342 no no 0 G 0.000000 0 transition C T C>T 0.992 0.125 R Arg CGC 0.190 R Arg CGT 0.082 205 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C615T:p.R205R . . 0.49758455 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 207.0 . . . . . . . . . . -0.1676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . V.62 . ENST00000550144 V.56 II.56 . . . . . Name\x3dnsv726 . . . . . II.56 . . . . . . . . . . . . . . . . . . . . . 0.915 0.915000 . . . . . 1.0E-255 . . . . . . . . . 0.915 . . . . . . 1 1538 10 1/0 0,226,241 +rs796729342 12 58217762 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217762 58217762 Chr12(GRCh37):g.58217762G>A *630 *630 NR_029847.1:n.*630C>T p.? p.? 1 613057 rs796729342 no no 0 G 0.000000 0 transition C T C>T 0.992 0.125 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C615T:p.R205R . . 0.49758455 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 207.0 . . . . . . . . . . -0.1676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . V.62 . ENST00000550144 V.56 II.56 . . . . . Name\x3dnsv726 . . . . . II.56 . . . . . . . . . . . . . . . . . . . . . 0.915 0.915000 . . . . . 1.0E-255 . . . . . . . . . 0.915 . . . . . . 1 1538 10 1/0 0,226,241 +rs796989809 12 58217763 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217763 58217763 Chr12(GRCh37):g.58217763C>T 614 614 NM_005730.3:c.614G>A p.Arg205His p.Arg205His 7 608711 -77 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.20921 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796989809 no no 0 C 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30920 8712 838 302 1622 0 14970 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 1.000 3.192 R Arg CGC 0.190 H His CAC 0.587 205 11 9 C. elegans 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 241.31 I.62 Deleterious 0.01 III.39 good 3.141E-2 0.001376 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G614A:p.R205H . . 0.3546798 . . @ 72 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.916 . @ . . . . . 1 0.979 . . 203.0 . . . . . . . . . . 0.1933 0.200 0.193 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.176 . . exonic exonic exonic . . 0.421 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.667 0.057 . . 37 . 0.332 . . 0.155 . . . 0.748 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.774 . . 0 0 0 0 0 0 . 0.629 . . 0.541 . . . . . . 1 0.491 . . . . . 0.467 . 0.394 . HET 0.01 . . . . . . . . . . . . . 11.0053 . . V.56 III.75 . 0.000000 . . . Name\x3dnsv726 . . 0.594 . . III.75 . . . . . . . . . 0 3.234e-05 0 0 0 0 6.68e-05 0 . . 0.522 . 0.916 0.916000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.701 . 0.490 0.916 0.871 . . . . . 1 1538 10 1/0 0,217,253 +rs796989809 12 58217763 C T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217763 58217763 Chr12(GRCh37):g.58217763C>T *629 *629 NR_029847.1:n.*629G>A p.? p.? 1 613057 rs796989809 no no 0 C 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30920 8712 838 302 1622 0 14970 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 1.000 3.192 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G614A:p.R205H . . 0.3546798 . . @ 72 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.916 . @ . . . . . 1 0.979 . . 203.0 . . . . . . . . . . 0.1933 0.200 0.193 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.176 . . exonic exonic exonic . . 0.421 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.667 0.057 . . 37 . 0.332 . . 0.155 . . . 0.748 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.774 . . 0 0 0 0 0 0 . 0.629 . . 0.541 . . . . . . 1 0.491 . . . . . 0.467 . 0.394 . HET 0.01 . . . . . . . . . . . . . 11.0053 . . V.56 III.75 . 0.000000 . . . Name\x3dnsv726 . . 0.594 . . III.75 . . . . . . . . . 0 3.234e-05 0 0 0 0 6.68e-05 0 . . 0.522 . 0.916 0.916000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.996 . 0.701 . 0.490 0.916 0.871 . . . . . 1 1538 10 1/0 0,217,253 +rs796106620 12 58217770 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217770 58217770 Chr12(GRCh37):g.58217770G>T 607 607 NM_005730.3:c.607C>A p.Leu203Ile p.Leu203Ile 7 608711 -84 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.71597 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796106620 no no 0 G 0.000000 0 transversion C A C>A 1.000 4.160 L Leu CTC 0.197 I Ile ATC 0.481 203 11 10 Baker's yeast 2 2 2 0 0 4.IX 5.II 111 111 5 C0 234.72 IV.86 Deleterious 0 III.39 bad 9.979E-4 8.665E-5 122 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C607A:p.L203I . . 0.1770335 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.902 . @ . . . . . 1 0.739 . . 209.0 . . . . . . . . . . 0.6041 0.632 0.604 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.836 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.752 0.088 . . 37 . 0.843 . . 0.863 . . . 0.925 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.459 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.906 . 0.722 . HET 0 . . . . . . . . . . . . . 18.4399 . ENST00000550144 V.56 V.56 . 0.000000 . . . Name\x3dnsv726 . . 0.671 . . V.56 . . . . . . . . . . . . . . . . . . . 0.522 . 2.890 2.890000 . . 0.000000 . . 1.0E-122 1.000 0.715 . 0.888 1.000 . 0.692 . 0.713 2.890 0.917 . . . . . 1 1538 10 1/0 0,208,255 +rs796106620 12 58217770 G T - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217770 58217770 Chr12(GRCh37):g.58217770G>T *622 *622 NR_029847.1:n.*622C>A p.? p.? 1 613057 rs796106620 no no 0 G 0.000000 0 transversion C A C>A 1.000 4.160 122 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C607A:p.L203I . . 0.1770335 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.902 . @ . . . . . 1 0.739 . . 209.0 . . . . . . . . . . 0.6041 0.632 0.604 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.836 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.752 0.088 . . 37 . 0.843 . . 0.863 . . . 0.925 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.459 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.906 . 0.722 . HET 0 . . . . . . . . . . . . . 18.4399 . ENST00000550144 V.56 V.56 . 0.000000 . . . Name\x3dnsv726 . . 0.671 . . V.56 . . . . . . . . . . . . . . . . . . . 0.522 . 2.890 2.890000 . . 0.000000 . . 1.0E-122 1.000 0.715 . 0.888 1.000 . 0.692 . 0.713 2.890 0.917 . . . . . 1 1538 10 1/0 0,208,255 +rs113792624 12 58217774 C A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58217774 58217774 Chr12(GRCh37):g.58217774C>A 603 603 NM_005730.3:c.603G>T p.Lys201Asn p.Lys201Asn 7 608711 -88 5' 71.5327 7.394 0.880811 8.71597 71.5327 7.394 0.880811 8.71597 0 Cryptic Acceptor Strongly Activated 58217765 0.002216 1.44268 0.020516 67.7026 NLI interacting factor Dullard phosphatase domain, eukaryotic rs113792624 no no 0 C 0.000000 0 COSM5765533 Large intestine 0.000896 2231 transversion G T G>T 1.000 2.546 K Lys AAG 0.575 N Asn AAT 0.464 201 11 10 Baker's yeast 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 238.71 IV.86 Deleterious 0 III.39 bad 1.396E-3 9.786E-5 229 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G603T:p.K201N . . 0.24019608 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.955 . . 204.0 . . . . . . . . . . 1.0039 0.880 1.004 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.836 @ . . . 0.6 0.34 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.888 0.243 . . 37 . 0.833 . . 0.906 . . . 0.993 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.906 . 0.697 . HET 0 rs113792624 . . . . . . . . . . . . 18.4399 . . V.56 V.56 . 0.000000 . . . Name\x3dnsv726 . . 0.537 . . V.56 . . . . . . . . . . . . . . . . . . . 0.522 . 2.890 2.890000 . . 0.000000 . . 1.0E-229 1.000 0.715 . 0.888 1.000 . 0.438 . 0.490 2.890 0.871 . . . rs113792624 rs113792624 1 1538 10 1/0 0,208,255 +rs113792624 12 58217774 C A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217774 58217774 Chr12(GRCh37):g.58217774C>A *618 *618 NR_029847.1:n.*618G>T p.? p.? 1 613057 rs113792624 no no 0 C 0.000000 0 COSM5765533 Large intestine 0.000896 2231 transversion G T G>T 1.000 2.546 229 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.G603T:p.K201N . . 0.24019608 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.947 . @ . . . . . 1 0.955 . . 204.0 . . . . . . . . . . 1.0039 0.880 1.004 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.836 @ . . . 0.6 0.34 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.888 0.243 . . 37 . 0.833 . . 0.906 . . . 0.993 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.819 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.906 . 0.697 . HET 0 rs113792624 . . . . . . . . . . . . 18.4399 . . V.56 V.56 . 0.000000 . . . Name\x3dnsv726 . . 0.537 . . V.56 . . . . . . . . . . . . . . . . . . . 0.522 . 2.890 2.890000 . . 0.000000 . . 1.0E-229 1.000 0.715 . 0.888 1.000 . 0.438 . 0.490 2.890 0.871 . . . rs113792624 rs113792624 1 1538 10 1/0 0,208,255 +rs111421573 12 58217780 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58217780 58217780 Chr12(GRCh37):g.58217780G>A 597 597 NM_005730.3:c.597C>T p.Tyr199= p.Tyr199Tyr 7 608711 93 3' 78.9264 6.96245 0.990222 X.41 78.9264 6.96245 0.990222 X.41 0 Cryptic Acceptor Strongly Activated 58217773 0.00324 69.8019 0.164598 0.008289 71.3126 NLI interacting factor Dullard phosphatase domain, eukaryotic rs111421573 yes no Frequency 1 G 0.000000 0 0.000028 0.000065 0.000000 0.000203 0.000058 0.000000 0.000027 0.000000 0.000000 0.000203 7 1 0 2 1 0 3 0 0 245894 15276 33566 9838 17246 30778 111434 22288 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 2 1 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transition C T C>T 0.992 -0.037 Y Tyr TAC 0.562 Y Tyr TAT 0.438 199 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C597T:p.Y199Y . . 0.4784689 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . -0.5667 . . . . . . . . 7.950e-06 . . . 0 1.116e-05 0 0.0002 0 0 0 0 0 9.502e-06 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.42 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs111421573 . . . . . . . . . . . . 19.7965 . ENST00000550144 V.56 -7.42 . . . . . Name\x3dnsv726 . . . . . . 6.546e-05 2.847e-05 0 0.0002 5.798e-05 0 2.692e-05 0 0 . . . . . . . . . . . . -1.229 -1.229000 . . . . . 1.0E-255 . . . . . . . . . -1.229 . . . . rs111421573 rs111421573 1 1538 10 1/0 0,225,243 +rs111421573 12 58217780 G A - MIR26A2 31611 MicroRNA 26a-2 NR_029847.1 -1 84 0 substitution downstream GRCh37 58217780 58217780 Chr12(GRCh37):g.58217780G>A *612 *612 NR_029847.1:n.*612C>T p.? p.? 1 613057 rs111421573 yes no Frequency 1 G 0.000000 0 0.000028 0.000065 0.000000 0.000203 0.000058 0.000000 0.000027 0.000000 0.000000 0.000203 7 1 0 2 1 0 3 0 0 245894 15276 33566 9838 17246 30778 111434 22288 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 2 1 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transition C T C>T 0.992 -0.037 255 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon7:c.C597T:p.Y199Y . . 0.4784689 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . -0.5667 . . . . . . . . 7.950e-06 . . . 0 1.116e-05 0 0.0002 0 0 0 0 0 9.502e-06 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.42 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs111421573 . . . . . . . . . . . . 19.7965 . ENST00000550144 V.56 -7.42 . . . . . Name\x3dnsv726 . . . . . . 6.546e-05 2.847e-05 0 0.0002 5.798e-05 0 2.692e-05 0 0 . . . . . . . . . . . . -1.229 -1.229000 . . . . . 1.0E-255 . . . . . . . . . -1.229 . . . . rs111421573 rs111421573 1 1538 10 1/0 0,225,243 +rs113533986 12 58220784 A T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220784 58220784 Chr12(GRCh37):g.58220784A>T 349 349 NM_005730.3:c.349T>A p.Phe117Ile p.Phe117Ile 4 608711 -6 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992934 3.44866 0.000180035 NLI interacting factor Dullard phosphatase domain, eukaryotic rs113533986 no no 0 A 0.000000 0 transversion T A T>A 1.000 4.644 F Phe TTT 0.454 I Ile ATT 0.356 117 11 11 Baker's yeast 0 0 -1 0 0 5.II 5.II 132 111 21 C15 0.00 21.28 Deleterious 0 III.37 bad 6.711E-3 0.0003092 215 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.T349A:p.F117I CTDSP2:uc001sqm.3:exon4:c.T349A:p.F117I CTDSP2:NM_005730:exon4:c.T349A:p.F117I . . 0.1986755 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.797 . @ . . . . . 1 0.550 . . 151.0 . . . . . . . . . . 0.5351 0.501 0.535 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.174 . . exonic exonic exonic . . 0.640 @ . . . 0.75 0.52 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.569 0.036 . . 37 . 0.848 . . 0.890 . . . 0.895 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.877 . . 0 0 0 0 0 0 . 0.689 . . 0.695 . . . . . . 0 0.912 . . . . . 0.635 . 0.686 . HET 0 rs113533986 . . . . . . . . . . . . 13.9525 . ENST00000550144 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.812 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.830 . 2.193 2.193000 . . 0.000000 . . 1.0E-215 1.000 0.715 . 0.750 0.998 . 0.940 . 0.960 2.193 1.062 . . . rs113533986 rs113533986 1 1538 10 1/0 0,217,255 +rs757239164 12 58220801 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220801 58220801 Chr12(GRCh37):g.58220801G>T 332 332 NM_005730.3:c.332C>A p.Thr111Asn p.Thr111Asn 4 608711 -23 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 2.96712 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs757239164 yes no Frequency 1 G 0.000000 0 COSM5482778|COSM5482778 Lung|Large intestine 0.000419|0.000448 2388|2231 transversion C A C>A 1.000 5.613 T Thr ACC 0.361 N Asn AAC 0.536 111 11 11 Baker's yeast 0 0 0 0.71 I.33 8.VI 11.VI 61 56 65 C55 0.00 64.77 Deleterious 0 III.37 bad 2.204E-4 2.327E-5 181 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.C332A:p.T111N CTDSP2:uc001sqm.3:exon4:c.C332A:p.T111N CTDSP2:NM_005730:exon4:c.C332A:p.T111N . . 0.11515152 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.846 . @ . . . . . 1 0.644 . . 165.0 . . . . . . . . . . 1.1526 1.003 1.153 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.773 0.100 . . 37 . 0.837 . . 0.916 . . . 0.993 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.912 . . . . . 0.873 . 0.644 . LowAF 0 . . . . . . . . . . . . . 17.3988 . ENST00000398073 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.834 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.717 2.717000 . . 0.000000 . . 1.0E-181 1.000 0.715 . 0.888 0.998 . 0.984 . 0.713 2.717 0.917 . . . . . 1 1538 10 1/0 0,206,255 +rs78691025 12 58220809 G C - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58220809 58220809 Chr12(GRCh37):g.58220809G>C 324 324 NM_005730.3:c.324C>G p.Leu108= p.Leu108Leu 4 608711 -31 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 II.46 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs78691025 yes no Frequency 1 G 0.000000 0 transversion C G C>G 1.000 2.223 L Leu CTC 0.197 L Leu CTG 0.404 108 217 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.C324G:p.L108L CTDSP2:uc001sqm.3:exon4:c.C324G:p.L108L CTDSP2:NM_005730:exon4:c.C324G:p.L108L . . 0.55625 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 160.0 . . . . . . . . . . -0.1083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.74 0.45 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78691025 . . . . . . . . . . . . 10.0445 . ENST00000550144 IV.92 3.VI . . . . . Name\x3dnsv726 . . . . . 3.VI . . . . . . . . . . . . . . . . . . . . . 0.762 0.762000 . . . . . 1.0E-217 . . . . . . . . . 0.762 . . . . rs78691025 rs78691025 1 1538 10 1/0 0,249,251 +rs796375970 12 58220811 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220811 58220811 Chr12(GRCh37):g.58220811G>T 322 322 NM_005730.3:c.322C>A p.Leu108Ile p.Leu108Ile 4 608711 -33 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 3.46633 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs796375970 no no 0 G 0.000000 0 COSM5021762|COSM5021762 Large intestine|Bone 0.000448|0.001757 2231|569 transversion C A C>A 1.000 1.093 L Leu CTC 0.197 I Ile ATC 0.481 108 11 11 Baker's yeast 2 2 2 0 0 4.IX 5.II 111 111 5 C0 0.00 IV.86 Deleterious 0 III.37 bad 9.979E-4 8.665E-5 211 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.C322A:p.L108I CTDSP2:uc001sqm.3:exon4:c.C322A:p.L108I CTDSP2:NM_005730:exon4:c.C322A:p.L108I . . 0.1875 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.757 . @ . . . . . 1 0.631 . . 160.0 . . . . . . . . . . 0.1882 0.092 0.188 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.178 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.439 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.749 0.087 . . 37 . 0.850 . . 0.854 . . . 0.966 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.446 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.784 . . . . . 0.427 . 0.744 . HET 0 . . . . . . . . . . . . . 10.305 . ENST00000550144 IV.92 0.817 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.510 . . . . . . . . . . . . . . . . . . . . . . 0.522 . 0.040 0.040000 . . 0.000000 . . 1.0E-211 0.998 0.411 . 0.888 0.997 . 0.222 . 0.219 0.040 -0.011 . . . . . 1 1538 10 1/0 0,214,255 +rs76940645 12 58220816 A G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220816 58220816 Chr12(GRCh37):g.58220816A>G 317 317 NM_005730.3:c.317T>C p.Ile106Thr p.Ile106Thr 4 608711 -38 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 3.63756 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs76940645 yes no Frequency 1 A 0.000000 0 0.000008 0.000065 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000065 2 1 0 0 0 1 0 0 0 245984 15294 33578 9848 17248 30782 111676 22082 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes transition T C T>C 1.000 4.644 I Ile ATT 0.356 T Thr ACT 0.243 106 11 10 C. elegans -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C65 IV.86 89.28 Deleterious 0.01 III.37 bad 1.397E-4 0.0001727 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.T317C:p.I106T CTDSP2:uc001sqm.3:exon4:c.T317C:p.I106T CTDSP2:NM_005730:exon4:c.T317C:p.I106T . . 0.6603774 . . @ 105 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.688 . @ . . . . . 1 0.905 . . 159.0 . . . . . . . . . . 0.7810 0.739 0.781 c . . . . . 7.981e-06 . . . 0 1.11e-05 0 0 0 0 0 6.06e-05 0 9.473e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.189 . . exonic exonic exonic . . 0.640 @ . . . 0.71 0.53 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.678 0.059 . . 37 . 0.486 . . 0.589 . . . 0.754 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.807 . . 0 0 0 0 0 0 . 0.447 . . 0.548 . . . . . . 0 0.784 . . . . . 0.635 . 0.982 . HET 0 rs76940645 . . . . . . . . . . . . 13.9525 . ENST00000398073 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.811 . . IV.92 6.539e-05 8.131e-06 0 0 0 0 0 0 3.249e-05 . . . . . . . . . . 0.522 . 2.193 2.193000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.940 . 0.960 2.193 1.062 . . . rs76940645 rs76940645 1 1538 10 1/0 0,246,247 +. 12 58220819 A G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220819 58220819 Chr12(GRCh37):g.58220819A>G 314 314 NM_005730.3:c.314T>C p.Val105Ala p.Val105Ala 4 608711 -41 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 3.49649 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs1056200123 no no 0 A 0.000000 0 COSM5763651 Large intestine 0.000448 2231 transition T C T>C 1.000 4.644 V Val GTC 0.240 A Ala GCC 0.403 105 11 10 C. elegans 0 0 -1 0 0 5.IX 8.I 84 31 64 C25 28.68 65.28 Deleterious 0.01 III.37 bad 1.878E-4 0.0009717 188 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.T314C:p.V105A CTDSP2:uc001sqm.3:exon4:c.T314C:p.V105A CTDSP2:NM_005730:exon4:c.T314C:p.V105A . . 0.13095239 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.868 . @ . . . . . 1 0.945 . . 168.0 . . . . . . . . . . 0.8438 0.781 0.844 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.396 . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.692 0.064 . . 37 . 0.693 . . 0.790 . . . 0.855 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.723 . . 0 0 0 0 0 0 . 0.447 . . 0.548 . . . . . . 0 0.912 . . . . . 0.635 . 0.858 . LowAF 0 . . . . . . . . . . . . . 13.9525 . ENST00000398073 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.811 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.193 2.193000 . . 0.000000 . . 1.0E-188 1.000 0.715 . 0.888 1.000 . 0.940 . 0.960 2.193 1.062 . . . . . 1 1538 10 1/0 0,207,255 +rs111346934 12 58220823 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220823 58220823 Chr12(GRCh37):g.58220823C>T 310 310 NM_005730.3:c.310G>A p.Val104Met p.Val104Met 4 608711 -45 5' 86.9973 9.00931 0.992398 3.17869 86.9973 9.00931 0.992398 3.09586 0 NLI interacting factor Dullard phosphatase domain, eukaryotic rs111346934 no no 0 C 0.000000 0 transition G A G>A 1.000 2.950 V Val GTG 0.468 M Met ATG 1.000 104 11 7 Tetraodon 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 30.92 0.00 Tolerated 0.42 III.37 good 1.809E-1 0.01283 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.G310A:p.V104M CTDSP2:uc001sqm.3:exon4:c.G310A:p.V104M CTDSP2:NM_005730:exon4:c.G310A:p.V104M . . 0.6585366 . . @ 108 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.487 . @ . . . . . 1 0.471 . . 164.0 . . . . . . . . . . 0.2619 0.362 0.262 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.640 @ . . . 0.73 0.48 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.253 0.010 . . 37 . 0.226 . . 0.015 . . . 0.188 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.353 . . 0.398 . . . . . . 0 0.181 . . . . . 0.462 . 0.551 . HET 0.41 rs111346934 . . . . . . . . . . . . X.17 . ENST00000398073 IV.92 IV.92 . 0.200000 O14595 . . Name\x3dnsv726 . . 0.595 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.717 2.717000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.750 0.998 . 0.631 . 0.490 2.717 0.871 . . . rs111346934 rs111346934 1 1538 10 1/0 0,246,248 +rs747149135 12 58220831 C G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220831 58220831 Chr12(GRCh37):g.58220831C>G 302 302 NM_005730.3:c.302G>C p.Arg101Thr p.Arg101Thr 4 608711 50 3' 74.2179 5.83605 0.866996 2.73927 74.2179 5.83605 0.866996 3.38844 0 NLI interacting factor rs747149135 yes no Frequency 1 C 0.000000 0 COSM5021763|COSM5021763 Large intestine|Bone 0.000896|0.001757 2231|569 transversion G C G>C 1.000 3.192 R Arg AGG 0.207 T Thr ACG 0.116 101 11 7 Fruitfly -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C25 26.00 66.45 Deleterious 0.03 III.37 bad 1.222E-4 0.0002087 149 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.G302C:p.R101T CTDSP2:uc001sqm.3:exon4:c.G302C:p.R101T CTDSP2:NM_005730:exon4:c.G302C:p.R101T . . 0.17283951 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.836 . @ . . . . . 1 0.394 . . 162.0 . . . . . . . . . . 0.5691 0.568 0.569 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.176 . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.414 0.019 . . 37 . 0.344 . . 0.289 . . . 0.775 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.395 . . 0.450 . . . . . . 0 0.784 . . . . . 0.462 . 0.478 . HET 0 . . . . . . . . . . . . . X.17 . ENST00000398073 IV.92 IV.92 . 0.000000 O14595 . . Name\x3dnsv726 . . 0.576 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.717 2.717000 . . 0.000000 . . 1.0E-149 1.000 0.715 . 0.888 1.000 . 0.534 . 0.490 2.717 0.871 . . . . . 1 1538 10 1/0 0,216,255 +rs74343811 12 58220841 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220841 58220841 Chr12(GRCh37):g.58220841C>T 292 292 NM_005730.3:c.292G>A p.Asp98Asn p.Asp98Asn 4 608711 40 3' 74.2179 5.83605 0.866996 2.73927 74.2179 5.83605 0.866996 2.66681 0 NLI interacting factor rs74343811 no no 0 C 0.000000 0 COSM4147353 Thyroid 0.001339 747 transition G A G>A 1.000 5.613 D Asp GAT 0.461 N Asn AAT 0.464 98 11 10 C. elegans 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 85.08 0.00 Tolerated 0.11 III.37 good 7.378E-1 0.0006087 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.G292A:p.D98N CTDSP2:uc001sqm.3:exon4:c.G292A:p.D98N CTDSP2:NM_005730:exon4:c.G292A:p.D98N . . 0.64102566 . . @ 100 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.865 . @ . . . . . 1 0.979 . . 156.0 . . . . . . . . . . 0.4692 0.512 0.469 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.640 @ . . . 0.71 0.48 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.368 0.016 . . 37 . 0.754 . . 0.758 . . . 0.665 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.799 . . 0 0 0 0 0 0 . 0.508 . . 0.560 . . . . . . 0 0.367 . . . . . 0.873 . 0.169 . HET 0.02 rs74343811 . . . . . . ID\x3dCOSM4147353\x3bOCCURENCE\x3d1(thyroid) . . . . . 17.3988 . ENST00000550144 IV.92 IV.92 . 0.200000 O14595 . . Name\x3dnsv726 . . 0.691 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.522 . 2.717 2.717000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.706 . 0.490 2.717 0.871 . . . rs74343811 rs74343811 1 1538 10 1/0 0,250,254 +rs75591888 12 58220844 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58220844 58220844 Chr12(GRCh37):g.58220844C>T 289 289 NM_005730.3:c.289G>A p.Glu97Lys p.Glu97Lys 4 608711 37 3' 74.2179 5.83605 0.866996 2.73927 74.2179 5.83605 0.866996 2.68651 0 NLI interacting factor rs75591888 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 245866 15288 33578 9850 17248 30782 111630 22014 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes COSM4147354 Thyroid 0.002677 747 transition G A G>A 0.890 0.125 E Glu GAA 0.417 K Lys AAA 0.425 97 11 6 Armadillo 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 130.23 0.00 Tolerated 0.62 III.37 good 6.495E-1 0.3595 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000398073:exon4:c.G289A:p.E97K CTDSP2:uc001sqm.3:exon4:c.G289A:p.E97K CTDSP2:NM_005730:exon4:c.G289A:p.E97K . . 0.6451613 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.368 . @ . . . . . 1 0.310 . . 155.0 . . . . . . . . . . -0.1999 -0.148 -0.200 c . . . . . 7.982e-06 . . . 0 1.11e-05 0 0 0 0 0 6.06e-05 0 9.474e-06 0 0 0 0 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.162 . . exonic exonic exonic . . 0.237 @ . . . 0.66 0.46 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.422 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . T 0.196 0.007 . . 37 . 0.346 . . 0.055 . . . 0.153 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.059 . . . . . 0.363 . 0.417 . HET 0.7 rs75591888 . . . . . . ID\x3dCOSM4147354\x3bOCCURENCE\x3d2(thyroid) . . . . . IX.58 . ENST00000550144 IV.92 I.76 . 0.660000 O14595 . . Name\x3dnsv726 . . 0.324 . . . 0 4.067e-06 0 0 0 0 0 0 3.249e-05 . . . . . . . . . . 0.522 . 0.718 0.718000 . . 0.660000 . . 1.0E-255 0.102 0.226 . 0.888 0.991 . 0.235 . 0.146 0.718 -0.732 . . . rs75591888 rs75591888 1 1538 10 1/0 0,250,255 +rs76678169 12 58220872 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58220872 58220872 Chr12(GRCh37):g.58220872C>T 261 261 NM_005730.3:c.261G>A p.Gly87= p.Gly87Gly 4 608711 9 3' 74.2179 5.83605 0.866996 2.73927 74.2179 5.83605 0.866657 2.58559 -0.000130335 rs76678169 no no 0 C 0.000000 0 transition G A G>A 0.992 -0.037 G Gly GGG 0.250 G Gly GGA 0.246 87 255 PASS . . . . . . . . . . . ENSG00000175215:ENST00000551594:exon4:c.G287A:p.G96E CTDSP2:uc001sqm.3:exon4:c.G261A:p.G87G CTDSP2:NM_005730:exon4:c.G261A:p.G87G . . 0.41984734 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . -0.0460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.63 0.48 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76678169 . . . . . . . . . . . . 2.1684 . ENST00000550144 IV.92 1.0 . . . . . Name\x3dnsv726 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.343 0.343000 . . . . . 1.0E-255 . . . . . . . . . 0.343 . . . . rs76678169 rs76678169 1 1538 10 1/0 0,244,255 +rs748943818 12 58240165 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58240165 58240165 Chr12(GRCh37):g.58240165G>A 54 54 NM_005730.3:c.54C>T p.Leu18= p.Leu18Leu 1 608711 -11 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 8.78766 0 Cryptic Donor Strongly Activated 58240171 0.006062 58.1699 1.03152 0.058976 63.9485 rs748943818 yes no Frequency 1 G 0.000000 0 transition C T C>T 1.000 1.416 L Leu CTC 0.197 L Leu CTT 0.129 18 212 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.C54T:p.L18L . . 0.1904762 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L18|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . II.77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +rs796439910 12 58240168 C G - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58240168 58240168 Chr12(GRCh37):g.58240168C>G 51 51 NM_005730.3:c.51G>C p.Val17= p.Val17Val 1 608711 -14 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.77195 0 rs796439910 no no 0 C 0.000000 0 transversion G C G>C 1.000 1.335 V Val GTG 0.468 V Val GTC 0.240 17 220 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.G51C:p.V17V . . 0.21428572 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtC|V17|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . II.63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +rs112505351 12 58240177 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58240177 58240177 Chr12(GRCh37):g.58240177G>A 42 42 NM_005730.3:c.42C>T p.Asp14= p.Asp14Asp 1 608711 -23 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.34104 0 rs112505351 no no 0 G 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000000 0.000068 2 0 0 0 0 2 0 0 0 232822 13828 32786 9570 16806 29212 104338 21068 5214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Exomes transition C T C>T 1.000 1.174 D Asp GAC 0.539 D Asp GAT 0.461 14 229 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.C42T:p.D14D . . 0.24 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 125.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D14|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . II.50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.53 182 ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112505351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.25 0 8.59e-06 0 0 0 0 0 0 6.847e-05 . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs112505351 rs112505351 1 1538 10 1/0 0,229,255 +rs796887934 12 58240188 G A - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58240188 58240188 Chr12(GRCh37):g.58240188G>A 31 31 NM_005730.3:c.31C>T p.Arg11Trp p.Arg11Trp 1 608711 -34 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.16324 0 rs796887934 no no 0 G 0.000000 0 COSM5763476 Large intestine 0.000896 2231 transition C T C>T 1.000 2.707 R Arg CGG 0.207 W Trp TGG 1.000 11 11 5 Cat -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.02 III.39 good 3.478E-2 0.06003 235 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.C31T:p.R11W . . 0.25833333 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.897 . @ . . . . . 1 0.973 . . 120.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R11W|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . 0.1364 0.181 0.136 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.362 @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.130 . . . . D 0.624 0.046 . . 37 . 0.136 . . 0.174 . . . 0.170 0.418 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.571 . . 0.447 . . . . . . 0 0.682 . . . . . 0.566 . 0.517 . HET 0.01 . . . . . . . . . . . . . 12.773 . . III.25 III.25 . 0.000000 . . . . . . 0.296 . . III.25 . . . . . . . . . . . . . . . . . . . 0.072 . 2.110 2.110000 . . 0.000000 . . 1.0E-235 1.000 0.715 . 0.888 0.999 . 0.503 . 0.551 2.110 0.573 . . . . . 1 1538 10 1/0 0,231,255 +rs758249968 12 58240189 C T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution synonymous exon GRCh37 58240189 58240189 Chr12(GRCh37):g.58240189C>T 30 30 NM_005730.3:c.30G>A p.Ala10= p.Ala10Ala 1 608711 -35 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.32616 0 rs758249968 no no 0 C 0.000000 0 0.000004 0.000000 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000031 1 0 1 0 0 0 0 0 0 232562 13846 32752 9568 16802 29184 104216 21016 5178 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 47 Exomes COSM5763540 Large intestine 0.000896 2231 transition G A G>A 1.000 2.707 A Ala GCG 0.107 A Ala GCA 0.226 10 242 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.G30A:p.A10A . . 0.28125 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A10|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . II.70 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000175215 CTDSP2 CTDSP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758249968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.25 0 4.3e-06 3.053e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +rs74554628 12 58240210 G T - CTDSP2 17077 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 NM_005730.3 -1 5020 816 NP_005721.3 O14595 substitution missense exon GRCh37 58240210 58240210 Chr12(GRCh37):g.58240210G>T 9 9 NM_005730.3:c.9C>A p.His3Gln p.His3Gln 1 608711 -56 5' 84.5939 VIII.53 0.965914 9.69132 84.5939 VIII.53 0.965914 9.39234 0 rs74554628 no no 0 G 0.000000 0 COSM5021764|COSM5021764|COSM5021764 Upper aerodigestive tract|Large intestine|Bone 0.003215|0.001345|0.001757 1244|2231|569 transversion C A C>A 1.000 2.707 H His CAC 0.587 Q Gln CAA 0.256 3 11 5 Cat 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.57 III.39 good 8.732E-1 0.5438 253 PASS . . . . . . . . . . . . . CTDSP2:NM_005730:exon1:c.C9A:p.H3Q . . 0.3140496 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.311 . @ . . . . . 1 0.306 . . 121.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H3Q|CTDSP2|mRNA|CODING|NM_005730|NM_005730.ex.1) . . . . . . . -0.0883 0.026 -0.088 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.162 . . exonic exonic exonic . . 0.362 @ . . . 0.54 0.49 182 ENSG00000175215 CTDSP2 CTDSP2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.304 . . . . T 0.382 0.017 . . 37 . 0.110 . . 0.207 . . . 0.404 0.333 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.138 . . 0 0 0 0 0 0 . 0.356 . . 0.300 . . . . . . 0 0.912 . . . . . 0.566 . 0.402 . HET 0.17 rs74554628 . . . . . . . . . . . . 12.773 . . III.25 III.25 . 0.200000 . . . . . . 0.467 . . III.25 . . . . . . . . . . . . . . . . . . . 0.072 . 2.110 2.110000 . . 0.200000 . . 1.0E-253 1.000 0.715 . 0.888 0.923 . 0.438 . 0.551 2.110 0.866 . . . rs74554628 rs74554628 1 1538 10 1/0 0,237,255 +. 12 62931847 TTGT T - MON2 29177 MON2 homolog, regulator of endosome-to-Golgi trafficking NM_015026.2 1 10379 5154 NP_055841.2 Q7Z3U7 deletion intron GRCh37 62931850 62931852 Chr12(GRCh37):g.62931850_62931852del 2119-26 2119-24 NM_015026.2:c.2119-26_2119-24del p.? p.? 17 16 616822 -24 3' 92.8718 9.38792 0.928744 8.14294 92.8718 9.38792 0.928744 7.16199 0 GTT 255 Pass . . . . . . . . . . . . . . . . 0.5555556 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000061987 MON2 MON2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,26 +. 12 70209121 TC T - RAB3IP 16508 RAB3A interacting protein NM_175623.3 1 9646 1431 NP_783322.1 Q96QF0 deletion intron GRCh37 70209121 70209121 Chr12(GRCh37):g.70209121del 1349-23 1349-23 NM_175623.3:c.1349-23del p.? p.? 11 10 608686 -23 3' 82.716 7.06879 0.972432 2.68311 82.716 7.06879 0.972432 2.89275 0 A 255 Pass . . . . . . . . . . . . . . . . 0.34146342 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . RAB3IP RAB3IP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +. 12 70272928 C CGGCGGGTG - MYRFL 26316 Myelin regulatory factor-like NM_182530.2 1 3123 2733 NP_872336.2 Q96LU7 insertion intron GRCh37 70272928 70272929 Chr12(GRCh37):g.70272928_70272929insGGCGGGTG 206-47 206-46 NM_182530.2:c.206-47_206-46insGGCGGGTG p.? p.? 4 3 -46 3' 88.0138 13.4142 0.990957 13.076 88.0138 13.4142 0.990957 XII.26 0 GGCGGGTG 255 Pass . . . . . . . . . . . . . . . . 0.3272727 . . . 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 110 . . INTRON(MODIFIER||||MYRFL|mRNA|CODING|NM_182530|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . . . . . . . . ENSG00000166268 . MYRFL . dist\x3d55944\x3bdist\x3d47509 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,49 +rs748081671 12 70272929 T C - MYRFL 26316 Myelin regulatory factor-like NM_182530.2 1 3123 2733 NP_872336.2 Q96LU7 substitution intron GRCh37 70272929 70272929 Chr12(GRCh37):g.70272929T>C 206-46 206-46 NM_182530.2:c.206-46T>C p.? p.? 4 3 -46 3' 88.0138 13.4142 0.990957 13.076 88.0138 13.4142 0.990957 13.1972 0 rs748081671 yes no Frequency 1 T 0.000000 0 0.000065 0.000229 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000229 2 2 0 0 0 0 0 0 0 30814 8724 834 298 1614 0 14876 3494 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.000 -3.911 255 PASS . . . . . . . . . . . . . . . . 0.33027524 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . INTRON(MODIFIER||||MYRFL|mRNA|CODING|NM_182530|) . . . . . . . -0.4503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000166268 . MYRFL . dist\x3d55945\x3bdist\x3d47508 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.491e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs867650962 12 70272930 C A - MYRFL 26316 Myelin regulatory factor-like NM_182530.2 1 3123 2733 NP_872336.2 Q96LU7 substitution intron GRCh37 70272930 70272930 Chr12(GRCh37):g.70272930C>A 206-45 206-45 NM_182530.2:c.206-45C>A p.? p.? 4 3 -45 3' 88.0138 13.4142 0.990957 13.076 88.0138 13.4142 0.990957 XII.27 0 rs867650962 no no 0 C 0.000000 0 transversion C A C>A 0.000 -0.037 254 PASS . . . . . . . . . . . . . . . . 0.31896552 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . INTRON(MODIFIER||||MYRFL|mRNA|CODING|NM_182530|) . . . . . . . 0.2909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000166268 . MYRFL . dist\x3d55946\x3bdist\x3d47507 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +rs201212163 12 72004884 G A - ZFC3H1 28328 Zinc finger, C3H1-type containing NM_144982.4 -1 7158 5970 NP_659419.3 O60293 substitution intron GRCh37 72004884 72004884 Chr12(GRCh37):g.72004884G>A 5730-7 5730-7 NM_144982.4:c.5730-7C>T p.? p.? 33 32 -7 3' 88.6008 X.89 0.996799 XI.75 88.6008 X.33 0.997494 11.0211 -0.00272281 rs201212163 no no 0 G 0.000000 0 0.006528 0.003854 0.008411 0.006178 0.014471 0.007404 0.004934 0.010718 0.005917 0.014471 879 47 92 30 105 109 340 140 16 134646 12194 10938 4856 7256 14722 68914 13062 2704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 5 4 1 0 2 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5896185 Skin 0.000812 1232 transition C T C>T 0.102 -0.117 229 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . INTRON(MODIFIER||||ZFC3H1|mRNA|CODING|NM_144982|) . . . . . . . 0.7822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . 0.57 0.47 182 ENSG00000133858 ZFC3H1 ZFC3H1 ENST00000552994:c.*678C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201212163 . . . . . . . . . . . . . . . . . . . . 0 0.006 Name\x3dnsv832451 . . . . . . 0.0047 0.0070 0.0086 0.0064 0.0168 0.0101 0.0053 0.0058 0.0074 0.0027 0.0031 0.0029 0 0.0009 0.0714 0.0026 0.0063 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs201212163 rs201212163 1 1538 10 1.I 0,0,0 +. 12 78594402 T A - NAV3 15998 Neuron navigator 3 NM_001024383.1 1 9826 7158 NP_001019554.1 Q8IVL0 substitution intron GRCh37 78594402 78594402 Chr12(GRCh37):g.78594402T>A 6834+31 6834+31 NM_001024383.1:c.6834+31T>A p.? p.? 38 38 611629 31 5' 72.656 8.72697 0.754559 0 72.656 8.72697 0.754559 0 0 transversion T A T>A 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 10.0 . . . . . . . . . . -0.5001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000067798 NAV3 NAV3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv297n67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 12 82152106 C G - PPFIA2 9246 Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NM_003625.4 -1 5654 3774 NP_003616.2 O75334 substitution intron GRCh37 82152106 82152106 Chr12(GRCh37):g.82152106C>G 70 70 NM_003625.4:c.-3+73G>C p.? p.? 2 2 603143 73 5' 67.9163 4.67305 0.398168 1.95525 67.9163 4.67305 0.398168 2.14689 0 Cryptic Acceptor Weakly Activated 82152098 8.91647 0.837287 75.9681 9.23075 0.952344 76.9732 transversion G C G>C 0.992 0.125 212 PASS . . . . . . . . . . . . . . . . 0.19298245 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . I.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000139220 PPFIA2 PPFIA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1466n71 . . . . . III.64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 12 82152117 C G - PPFIA2 9246 Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NM_003625.4 -1 5654 3774 NP_003616.2 O75334 substitution intron GRCh37 82152117 82152117 Chr12(GRCh37):g.82152117C>G 59 59 NM_003625.4:c.-3+62G>C p.? p.? 2 2 603143 62 5' 67.9163 4.67305 0.398168 1.95525 67.9163 4.67305 0.398168 1.97677 0 transversion G C G>C 0.677 0.044 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . 0.8554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000139220 PPFIA2 PPFIA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1466n71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs61735395 12 95681533 A G - VEZT 18258 Vezatin, adherens junctions transmembrane protein NM_001352088.1 1 4631 2409 NP_001339017.1 substitution synonymous exon GRCh37 95681533 95681533 Chr12(GRCh37):g.95681533A>G 1491 1491 NM_001352088.1:c.1491A>G p.Lys497= p.Lys497Lys 10 94 3' 87.0218 8.15831 0.4746 2.52106 87.0218 8.15831 0.4746 2.52106 0 rs61735395 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.003000 0.005800 0.003646 0.001561 0.001957 0.001529 0.000000 0.000210 0.006523 0.001108 0.004955 0.006523 964 36 65 15 0 6 783 28 31 264370 23060 33222 9810 18152 28560 120034 25276 6256 0.000045 0.000087 0.000060 0.000000 0.000000 0.000000 0.000050 0.000000 0.000320 6 1 1 0 0 0 3 0 1 952 34 63 15 0 6 777 28 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8148 3748 11896 44 8 52 0.00537109 0.00212993 0.00435219 0.00537109 0.00212993 0.00435219 53 transition A G A>G 1.000 0.448 K Lys AAA 0.425 K Lys AAG 0.575 497 255 PASS . 0.0018 0.01 . 0.0026 . 0.0014 0.0058 . 0.003 . . . VEZT:NM_017599:exon9:c.A1422G:p.K474K . . 0.57894737 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 19.0 . . . 0.0021 0.0044 0.0054 0.0021 0.0044 0.0054 . I.36 . . . . . . . . 3.204e-03 . . . 0.0017 0.0049 0.0043 0 0.0012 0.0090 0.0026 9.878e-05 0.0014 0.0053 0.0042 0 0.0013 0.0097 0.0027 9.94e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.41 0.34 182 ENSG00000028203 VEZT VEZT . . . . . . 325 0.00500185 64976 318 0.00530124 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61735395 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7234 0.004352 . . . . . 0.0012 0.0036 0.0020 0.0016 0 0.0011 0.0066 0.0049 0.0002 0.0022 0.0038 0.0012 0 0 0.0009 0.0060 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs61735395 rs61735395 rs61735395 rs61735395 1 1538 10 1/0 0,255,255 +. 12 98938907 G GTT - TMPO 11875 Thymopoietin NM_003276.2 1 3672 2085 NP_003267.1 P42166 duplication downstream GRCh37 98938925 98938926 Chr12(GRCh37):g.98938924_98938925dup *10804 *10805 NM_003276.2:c.*10804_*10805dup p.? p.? 4 188380 12325 3' 94.7172 XI.97 0.994966 IX.47 94.7172 XI.97 0.994966 IX.47 0 rs577612551 yes no Frequency/1000G 2 0.006106 TT 17 0.003395 0.004500 0.004100 0.000000 0.004000 0.004300 TT 255 Pass . . . . . 0.0045 0.0034 0.0043 . 0.004 0.0041 . . . . . 0.4 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000120802 TMPO TMPO . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs577612551 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +rs77210491 12 99145357 G A - ANKS1B 24600 Ankyrin repeat and sterile alpha motif domain containing 1B NM_001352186.1 -1 6040 3858 NP_001339115.1 substitution intron GRCh37 99145357 99145357 Chr12(GRCh37):g.99145357G>A 3580-57 3580-57 NM_001352186.1:c.3580-57C>T p.? p.? 26 25 607815 -57 3' 93.5893 XI.24 0.970828 9.921 93.5893 XI.24 0.970828 X.76 0 Cryptic Acceptor Weakly Activated 99145337 6.0659 0.777554 83.7261 6.71353 0.827356 83.7261 rs77210491 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000000 0.000000 0.000000 0.017900 0.008600 0.008463 0.002867 0.010740 0.009934 0.000000 0.000000 0.013863 0.002005 0.010204 0.013863 262 25 9 3 0 0 208 7 10 30958 8720 838 302 1622 0 15004 3492 980 0.007634 0.000000 0.000000 0.000000 0.000000 0.000000 0.009615 0.000000 0.000000 2 0 0 0 0 0 2 0 0 258 25 9 3 0 0 204 7 10 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.198 255 PASS . 0.01 0.02 . 0.02 . 0.0048 0.0086 . 0.018 . . . . . . 0.47727272 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.2753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.39 0.51 182 ENSG00000185046 ANKS1B ANKS1B . . . . . . 969 0.0149132 64976 946 0.0157703 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77210491 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832496 . . . . . . . . . . . . . . . 0.0029 0.0085 0.0107 0.0099 0 0.0020 0.0139 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs77210491 rs77210491 1 1538 10 1/0 0,255,255 +. 12 102124255 CAT C - CHPT1 17852 Choline phosphotransferase 1 NM_020244.2 1 1567 1221 NP_064629.2 Q8WUD6 deletion downstream GRCh37 102124256 102124257 Chr12(GRCh37):g.102124256_102124257del *1533 *1534 NM_020244.2:c.*1533_*1534del p.? p.? 9 616747 1578 3' 73.8613 5.703 0.209778 0 73.8613 5.703 0.209778 0 0 New Donor Site 102124255 3.86672 0.745895 71.8462 rs200174486 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003800 0.000000 0.001000 0.004000 0.008600 0.003304 0.003880 0.003414 0.010141 0.000275 0.000533 0.003807 0.001788 0.003604 0.010141 357 46 53 62 2 8 164 11 11 108042 11856 15526 6114 7262 15000 43080 6152 3052 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 357 46 53 62 2 8 164 11 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AT 255 Pass 0.01 0.01 0.01 0.0035 0.01 0.0038 0.0032 0.0086 0.001 0.004 . . . . . . 0.42307693 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . 2.488e-03 . . . 0.0057 0.0032 0 0 . 0.0093 0.0192 0.0008 0.0057 0.0032 0 0 . 0.0094 0.0192 0.0008 . . . . . . intronic intronic intronic . . . . . . . . . . . SYCP3 SYCP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200174486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0028 0.0035 0.0102 0.0002 0.0010 0.0029 0.0019 0.0005 0.0044 0.0047 0.0026 0.0099 0.0006 0.0025 0.0056 0.0073 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs200174486 rs200174486 1 1538 10 1.I 0,12,37 +. 12 102124255 CAT C - SYCP3 18130 Synaptonemal complex protein 3 NM_001177949.1 -1 1129 711 NP_001171420.1 Q8IZU3 deletion intron GRCh37 102124256 102124257 Chr12(GRCh37):g.102124256_102124257del 552+1089 552+1090 NM_001177949.1:c.552+1089_552+1090del p.? p.? 7 7 604759 1089 5' 79.6441 7.80624 0.755738 0 79.6441 7.80624 0.755738 0 0 rs200174486 yes no Frequency/1000G 2 0.000000 0 0.003195 0.003800 0.000000 0.001000 0.004000 0.008600 0.003304 0.003880 0.003414 0.010141 0.000275 0.000533 0.003807 0.001788 0.003604 0.010141 357 46 53 62 2 8 164 11 11 108042 11856 15526 6114 7262 15000 43080 6152 3052 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 357 46 53 62 2 8 164 11 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AT 255 Pass 0.01 0.01 0.01 0.0035 0.01 0.0038 0.0032 0.0086 0.001 0.004 . . . . . . 0.42307693 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 26 . . . . . . . . . . . . . . . . . . . 2.488e-03 . . . 0.0057 0.0032 0 0 . 0.0093 0.0192 0.0008 0.0057 0.0032 0 0 . 0.0094 0.0192 0.0008 . . . . . . intronic intronic intronic . . . . . . . . . . . SYCP3 SYCP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs200174486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0028 0.0035 0.0102 0.0002 0.0010 0.0029 0.0019 0.0005 0.0044 0.0047 0.0026 0.0099 0.0006 0.0025 0.0056 0.0073 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs200174486 rs200174486 1 1538 10 1.I 0,12,37 +. 12 104714847 C CTT - TXNRD1 12437 Thioredoxin reductase 1 NM_001093771.2 1 3860 1950 NP_001087240.1 Q16881 duplication intron GRCh37 104714861 104714862 Chr12(GRCh37):g.104714860_104714861dup 990-9 990-8 NM_001093771.2:c.990-9_990-8dup p.? p.? 10 9 601112 -7 3' 90.3409 XI.59 0.991258 XI.93 90.3409 XI.59 0.991258 X.53 0 0.002913 0.001146 0.003301 0.002859 0.010906 0.003819 0.001864 0.001997 0.002292 0.010906 430 11 54 15 116 66 135 26 7 147616 9596 16358 5246 10636 17284 72420 13022 3054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 165 Exomes TT 255 Pass . . . . . . . . . . . . . . . . 0.36363637 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 33 . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0 0.0004 0 7.562e-05 0 0.0009 0 0.0002 0 0 0 5.832e-05 0 0.0009 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000198431 TXNRD1 TXNRD1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs775620705 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv899494 . . . . . . 0.0011 0.0029 0.0033 0.0029 0.0109 0.0020 0.0019 0.0023 0.0038 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,44 +rs35804663 12 105568101 G A - APPL2 18242 Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 NM_001251904.1 -1 3248 2013 NP_001238833.1 substitution synonymous exon GRCh37 105568101 105568101 Chr12(GRCh37):g.105568101G>A 2004 2004 NM_001251904.1:c.2004C>T p.Ser668= p.Ser668Ser 21 606231 126 3' 87.3965 8.67837 0.504545 8.25479 87.3965 8.67837 0.504545 8.25479 0 rs35804663 yes no Frequency/1000G 2 A 0.000000 0 0.000998 0.003000 0.000000 0.000000 0.000000 0.001400 0.000239 0.000791 0.000146 0.000000 0.000000 0.000033 0.000300 0.000078 0.000155 0.000791 66 19 5 0 0 1 38 2 1 276596 24018 34220 10144 18800 30702 126520 25756 6436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 66 19 5 0 0 1 38 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4405 13003 2 1 3 0.000232558 0.000226963 0.000230663 0.000232558 0.000226963 0.000230663 182 transition C T C>T 0.992 0.125 S Ser TCC 0.220 S Ser TCT 0.185 668 255 PASS . . . . . 0.003 0.001 0.0014 . . . . . . . . 0.35 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 40.0 . . . 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . I.92 . . . . . . . . 2.131e-04 . . . 0.0008 0.0003 8.67e-05 0 0 0.0004 0 0 0.0009 0.0002 8.941e-05 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.42 0.56 182 ENSG00000136044 APPL2 APPL2 . . . . . . 9 0.000138513 64976 4 6.66822e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35804663 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832506 0.000231 . . . . . 0.0009 0.0002 0.0001 0 0 8.984e-05 0.0003 0.0002 3.257e-05 0.0006 0.0003 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 rs35804663 rs35804663 rs35804663 rs35804663 1 1538 10 1/0 0,255,255 +. 12 107080626 TTTTTC T - RFX4 9985 Regulatory factor X, 4 (influences HLA class II expression) NM_001206691.1 1 3710 2235 NP_001193620.1 deletion intron GRCh37 107080628 107080632 Chr12(GRCh37):g.107080628_107080632del 405-34 405-30 NM_001206691.1:c.405-34_405-30del p.? p.? 6 5 603958 -30 3' 81.1899 7.16518 0.605365 9.16749 81.1899 7.16518 0.605365 8.11347 0 rs201342896 no no 0 0.000000 0 0.000015 0.000000 0.000039 0.000000 0.000000 0.000046 0.000011 0.000000 0.000000 0.000046 3 0 1 0 0 1 1 0 0 194054 12846 25788 6764 14514 21884 90584 17502 4172 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 78 Exomes 5582 2612 8194 2672 1652 4324 0.323722 0.38743 0.345423 0.323722 0.38743 0.345423 40 TTTCT 255 Pass . . . . . . . . . . . . . . . . 0.44 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25 . . . . . . 0.39 0.35 0.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . LOC100287944 LOC100287944 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201342896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.546e-05 3.878e-05 0 0 0 1.104e-05 0 4.57e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201342896 rs201342896 1 1538 10 1.I 0,12,36 +rs149956241 12 109292482 C T - DAO 2671 D-amino-acid oxidase NM_001917.4 1 1596 1044 NP_001908.3 P14920 substitution synonymous exon GRCh37 109292482 109292482 Chr12(GRCh37):g.109292482C>T 723 723 NM_001917.4:c.723C>T p.Ile241= p.Ile241Ile 9 124050 28 3' 83.9897 9.43056 0.859196 8.12843 83.9897 9.43056 0.859196 7.57566 0 FAD dependent oxidoreductase rs149956241 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001447 0.000125 0.000145 0.000099 0.000000 0.000032 0.002723 0.001396 0.001546 0.002723 401 3 5 1 0 1 345 36 10 277220 24024 34420 10152 18870 30782 126712 25792 6468 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000000 3 0 0 0 0 0 3 0 0 395 3 5 1 0 1 339 36 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8589 4405 12994 11 1 12 0.00127907 0.000226963 0.000922651 0.00127907 0.000226963 0.000922651 115 transition C T C>T 1.000 0.851 I Ile ATC 0.481 I Ile ATT 0.356 241 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . DAO:NM_001917:exon9:c.C723T:p.I241I . . 0.52272725 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 88.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I241|DAO|mRNA|CODING|NM_001917|NM_001917.ex.9) 0.0002 0.0009 0.0013 0.0002 0.0009 0.0013 . 1.0729 . . . . . . . . 1.350e-03 . . . 9.626e-05 0.0010 8.649e-05 0 0.0005 0.0021 0.0028 6.06e-05 0.0001 0.0010 8.919e-05 0 0.0008 0.0018 0 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.25 0.56 182 ENSG00000110887 DAO DAO . . . . . . 69 0.00106193 64976 66 0.00110026 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149956241 . . . . . . . . . . . . . . . . . . . . . . . 0.000923 . . . . 2.VIII 0.0001 0.0013 0.0001 0.0001 0 0.0014 0.0024 0.0011 3.249e-05 0.0001 0.0030 0 0 0 0.0014 0.0055 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs149956241 rs149956241 1 1538 10 1/0 0,255,255 +. 12 109935819 T C - UBE3B 13478 Ubiquitin protein ligase E3B NM_130466.3 1 5744 3207 NP_569733.2 Q7Z3V4 substitution intron GRCh37 109935819 109935819 Chr12(GRCh37):g.109935819T>C 819+91 819+91 NM_130466.3:c.819+91T>C p.? p.? 10 10 608047 91 5' 91.1667 9.84565 0.998555 7.30102 91.1667 9.84565 0.998555 7.30102 0 transition T C T>C 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.42424244 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.6279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000151148 UBE3B UBE3B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs145460865 12 110230121 G A - TRPV4 18083 Transient receptor potential cation channel, subfamily V, member 4 NM_021625.4 -1 3239 2616 NP_067638.3 Q9HBA0 substitution intron GRCh37 110230121 110230121 Chr12(GRCh37):g.110230121G>A 1891+47 1891+47 NM_021625.4:c.1891+47C>T p.? p.? 12 12 605427 47 5' 89.8591 9.60237 0.994102 7.87518 89.8591 9.60237 0.994102 8.14265 0 rs145460865 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.002596 0.000800 0.003100 0.001000 0.005000 0.004300 0.005815 0.000894 0.002200 0.000299 0.000372 0.001897 0.008903 0.011255 0.004847 0.011255 1590 21 75 3 7 58 1111 284 31 273408 23492 34096 10032 18792 30576 124790 25234 6396 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000317 0.000625 14 0 0 0 0 0 8 4 2 1562 21 75 3 7 58 1095 276 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8544 4404 12948 56 2 58 0.00651163 0.000453926 0.00445948 0.00651163 0.000453926 0.00445948 39 RCV000245491.1 germline clinical testing Likely benign 1 not specified transition C T C>T 0.000 -0.037 255 PASS . 0.0027 0.0028 0.0017 0.01 0.0008 0.0026 0.0043 0.001 0.005 0.0031 . . . . . 0.5362319 . . germline 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Likely//\@benign Likely_benign RCV000245491.1 not_specified MedGen CN169374 2 . . . 69.0 . . . 0.0005 0.0045 0.0065 0.0005 0.0045 0.0065 . 0.2082 . . . . . . . . 6.647e-03 . . . 0.0008 0.0036 0.0019 0.0007 0.0071 0.0054 0.0015 0.0020 0.0008 0.0071 0.0019 0.0005 0.0083 0.0116 0.0060 0.0020 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.48 0.35 182 ENSG00000111199 TRPV4 TRPV4 . . . . . . 333 0.00512497 64976 320 0.00533458 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145460865 . . . . . . . . . . . . . . . . . . . . . . . 0.004459 . . . . . 0.0007 0.0058 0.0021 0.0003 0.0003 0.0111 0.0091 0.0046 0.0019 0.0013 0.0057 0.0049 0 0.0006 0.0123 0.0074 0.0062 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145460865 rs145460865 1 1538 10 1/0 0,255,255 +. 12 112219700 A T - ALDH2 404 Aldehyde dehydrogenase 2 family (mitochondrial) NM_000690.3 1 2060 1554 NP_000681.2 P05091 substitution intron GRCh37 112219700 112219700 Chr12(GRCh37):g.112219700A>T 115-22 115-22 NM_000690.3:c.115-22A>T p.? p.? 2 1 100650 -22 3' 81.4558 XI.79 0.990339 XII.18 81.4558 XI.79 0.990339 XI.35 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245296 15208 33522 9826 17206 30616 111212 22242 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transversion A T A>T 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.58 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.4561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . ALDH2 ALDH2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.077e-06 0 0 0 0 8.992e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs181582263 12 112750817 T C - HECTD4 26611 HECT domain containing E3 ubiquitin protein ligase 4 NM_001109662.3 -1 15450 12855 NP_001103132.3 substitution splice site GRCh37 112750817 112750817 Chr12(GRCh37):g.112750817T>C 484+4 484+4 NM_001109662.3:c.484+4A>G p.? p.? 4 4 4 5' 82.2818 8.99306 0.825781 2.25353 72.2012 5.55692 0.785449 0 -0.184481 rs181582263 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.004000 0.005800 0.002594 0.000604 0.001709 0.000000 0.000000 0.001020 0.004016 0.007629 0.003053 0.007629 415 9 42 0 0 23 260 67 14 159998 14896 24578 8342 11532 22542 64740 8782 4586 0.000013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000031 0.000000 0.000000 1 0 0 0 0 0 1 0 0 413 9 42 0 0 23 258 67 14 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.079 0.448 255 PASS . 0.0041 0.01 . 0.01 . 0.0016 0.0058 . 0.004 . . . . . . 0.53846157 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||HECTD4|mRNA|CODING|NM_001109662|) . . . . . . . 1.1188 . . . . . . . . 1.059e-03 . . . 0 0.0010 0 0 . 0.0012 0 0.0011 0 0.0009 0 0 . 0.0007 0 0.0011 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.74 0.43 182 ENSG00000173064 HECTD4 HECTD4 . . . . . . 223 0.00343204 64976 215 0.00358417 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181582263 . . . . . . . . . . . . . . . . . . . . 0.5276 0.58 . . . . . . 4.VI 0.0008 0.0024 0.0017 0 0 0.0072 0.0039 0.0031 0.0010 0.0005 0.0033 0.0024 0 0 0.0083 0.0043 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs181582263 rs181582263 1 1538 10 1/0 0,255,255 +rs17851814 12 112846113 G A - RPL6 10362 Ribosomal protein L6 NM_000970.4 -1 965 867 NP_000961.2 Q02878 substitution synonymous exon GRCh37 112846113 112846113 Chr12(GRCh37):g.112846113G>A 267 267 NM_000970.4:c.267C>T p.Leu89= p.Leu89Leu 3 603703 30 3' 88.7162 9.84444 0.989929 10.852 88.7162 9.84444 0.989929 X.02 0 Cryptic Donor Strongly Activated 112846119 0.781369 0.026861 60.8611 3.86871 0.162618 66.6397 Ribosomal protein L6, N-terminal rs17851814 yes no Frequency 1 A 0.000000 0 0.000076 0.000000 0.000000 0.000000 0.000106 0.000000 0.000150 0.000000 0.000000 0.000150 21 0 0 0 2 0 19 0 0 277240 24034 34420 10152 18868 30780 126726 25794 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 0 0 0 2 0 19 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.283 0.044 L Leu CTC 0.197 L Leu CTT 0.129 89 253 PASS . . . . . . . . . . . . . . . . 0.32 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.9066 . . . . . . . . 9.471e-05 . . . 0 8.817e-05 0 0 0.0003 0.0002 0 0 0 0.0001 0 0.0001 0.0002 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.42 182 ENSG00000089009 RPL6 RPL6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17851814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.86 0 8.122e-05 0 0 0.0001 0 0.0002 0 0 0 3.228e-05 0 0 0 0 6.66e-05 0 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs17851814 rs17851814 rs17851814 rs17851814 1 1538 10 1/0 0,255,255 +rs41304351 12 112891203 G C - PTPN11 9644 Protein tyrosine phosphatase, non-receptor type 11 NM_001330437.1 1 6134 1794 NP_001317366.1 Q06124 substitution intron GRCh37 112891203 112891203 Chr12(GRCh37):g.112891203G>C 525+12 525+12 NM_001330437.1:c.525+12G>C p.? p.? 4 4 176876 12 5' 87.8485 8.76378 0.986942 V.34 87.8485 8.76378 0.986942 6.25739 0 rs41304351 yes no Frequency/1000G 2 G benign 0.000000 0 0.005990 0.000000 0.001000 0.000000 0.015900 0.018700 0.009836 0.002123 0.013543 0.005815 0.000053 0.002047 0.015396 0.002134 0.012531 0.015396 2725 51 466 59 1 63 1949 55 81 277050 24022 34410 10146 18862 30782 126590 25774 6464 0.000195 0.000000 0.000232 0.000000 0.000000 0.000065 0.000348 0.000000 0.000000 27 0 4 0 0 1 22 0 0 2671 51 458 59 1 61 1905 55 81 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8491 4395 12886 109 11 120 0.0126744 0.0024966 0.00922651 0.0126744 0.0024966 0.00922651 70 RCV000157027.1|RCV000037649.6 germline|germline|germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing Benign|Benign 0|2 Noonan syndrome|not specified transversion G C G>C 0.000 -0.360 252 PASS . 0.01 0.02 . 0.01 . 0.006 0.019 . 0.016 0.001 . . . . . 0.32142857 . . germline 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign Benign|other|Benign RCV000033494.2|RCV000037649.5|RCV000157027.1 Rasopathy|not_specified|Noonan_syndrome MedGen:Orphanet|MedGen|MeSH:MedGen:Orphanet:SNOMED_CT CN166718:ORPHA98733|CN169374|D009634:C0028326:ORPHA648:205824006 2 . . . 28.0 . . . 0.0025 0.0092 0.013 0.0025 0.0092 0.013 . 0.0618 . . . . . . . . 9.660e-03 . . . 0.0019 0.0091 0.0116 0.0005 0.0016 0.0148 0.0098 0.0018 0.0015 0.0095 0.0116 0.0003 0.0026 0.0149 0.0086 0.0019 . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.42 0.27 182 ENSG00000179295 PTPN11 PTPN11 . . . . . . 906 0.0139436 64976 876 0.0146034 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41304351 0.011 0.007 CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dRasopathy|AllHighlyPenetrant\x3bCLNACC\x3dRCV000033494.2|RCV000037649.1 CLINSIG\x3dnon-pathogenic|non-pathogenic\x3bCLNDBN\x3dRasopathy|not_specified\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000033494.2|RCV000037649.1\x3bCLNDSDB\x3dMedGen|.\x3bCLNDSDBID\x3dCN166718|. CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dRasopathy|not_specified|Noonan's_syndrome\x3bCLNREVSTAT\x3dsingle|mult|single\x3bCLNACC\x3dRCV000033494.2|RCV000037649.3|RCV000157027.1\x3bCLNDSDB\x3dMedGen|MedGen|GeneReviews:MedGen:SNOMED_CT\x3bCLNDSDBID\x3dCN166718|CN169374|NBK1124:C0028326:205824006 CLINSIG\x3dnon-pathogenic|non-pathogenic|non-pathogenic\x3bCLNDBN\x3dRasopathy|not_specified|Noonan's_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided\x3bCLNACC\x3dRCV000033494.2|RCV000037649.3|RCV000157027.1\x3bCLNDSDB\x3dMedGen|MedGen|GeneReviews:MedGen:SNOMED_CT\x3bCLNDSDBID\x3dCN166718|CN169374|NBK1124:C0028326:205824006 . . . . . . . . . . . . . . . . Name\x3dnsv889 0.009227 . . . . . 0.0017 0.0099 0.0134 0.0060 5.8e-05 0.0022 0.0155 0.0128 0.0020 0.0029 0.0090 0.0179 0 0 0.0017 0.0147 0.0112 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . 0.02 rs41304351 rs41304351 rs41304351 rs41304351 1 1538 10 1/0 0,255,255 +rs147338699 12 113612455 T C - DDX54 20084 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 NM_001111322.1 -1 4381 2649 NP_001104792.1 substitution missense exon GRCh37 113612455 113612455 Chr12(GRCh37):g.113612455T>C 1058 1058 NM_001111322.1:c.1058A>G p.Tyr353Cys p.Tyr353Cys 10 611665 -11 5' 86.8044 8.70331 0.993011 X.14 86.8044 8.70331 0.993011 10.885 0 Helicase, C-terminal rs147338699 yes no Frequency/1000G 2 T 0.000000 0 0.004593 0.000000 0.018400 0.000000 0.004000 0.001400 0.007216 0.001293 0.002558 0.000789 0.000053 0.022474 0.008430 0.002490 0.007437 0.022474 1995 31 88 8 1 691 1064 64 48 276486 23970 34404 10136 18848 30746 126222 25706 6454 0.000123 0.000000 0.000000 0.000000 0.000000 0.000781 0.000079 0.000000 0.000000 17 0 0 0 0 12 5 0 0 1961 31 88 8 1 667 1054 64 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4395 12935 60 11 71 0.00697674 0.0024966 0.00545902 0.00697674 0.0024966 0.00545902 50 transition A G A>G 1.000 2.304 Y Tyr TAC 0.562 C Cys TGC 0.552 353 11 9 Baker's yeast -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 248.74 0.00 Deleterious 0.01 3.VIII good 4.009E-2 0.01461 255 PASS . 0.0023 0.0028 . 0.01 . 0.0046 0.0014 . 0.004 0.018 . . . . . 0.5294118 . . @ 54 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.638 . @ . . . . . 1 0.861 . . 102.0 . . . 0.0025 0.0055 0.007 0.0025 0.0055 0.007 . 0.2042 0.184 0.204 c . . . . . 7.766e-03 . . . 0.0017 0.0085 0.0030 0 0.0038 0.0075 0.0116 0.0229 0.0019 0.0081 0.0030 0 0.0033 0.0075 0.0061 0.0229 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.326 0.0046 . . . 0.44 0.43 182 ENSG00000123064 DDX54 DDX54 . . . 1.000 0.747 . 374 0.00575597 64976 351 0.00585137 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.151 . . 0.012 . . . 0.766 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.952 . . 0 0 0 0 0 0 . 0.404 . . 0.461 . . . . . . 0 0.784 . . . . . 0.419 . 0.665 . HET 0 rs147338699 0.011 0.007 . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 10.1738 0.002408 . V.44 II.89 . 0.000000 . . . . 0.005459 . 0.429 . . II.89 0.0014 0.0074 0.0025 0.0007 0 0.0027 0.0081 0.0073 0.0225 0.0011 0.0061 0.0036 0.0033 0.0006 0.0014 0.0107 0.0082 . . 0.996 . 0.860 0.860000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.419 0.998 . 0.633 . 0.635 0.860 0.991 0.011 . . rs147338699 rs147338699 1 1538 10 1/0 0,255,255 +rs200189038 12 113796560 A G - PLBD2 27283 Phospholipase B domain containing 2 NM_173542.3 1 2832 1770 NP_775813.2 Q8NHP8 substitution missense exon GRCh37 113796560 113796560 Chr12(GRCh37):g.113796560A>G 155 155 NM_173542.3:c.155A>G p.Asp52Gly p.Asp52Gly 1 -136 5' 81.8924 9.08182 0.975053 9.99749 81.8924 9.08182 0.975053 9.99749 0 New Donor Site 113796559 4.69887 0.01339 67.8095 rs200189038 yes no Frequency/1000G 2 A 0.000000 0 0.004593 0.000000 0.014300 0.001000 0.007000 0.001400 0.004307 0.000551 0.000923 0.009499 0.000542 0.007968 0.006956 0.002220 0.006598 0.009499 224 5 2 11 1 20 148 28 9 52004 9074 2168 1158 1844 2510 21276 12610 1364 0.000077 0.000000 0.000000 0.000000 0.000000 0.000797 0.000094 0.000000 0.000000 2 0 0 0 0 1 1 0 0 220 5 2 11 1 18 146 28 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7268 3753 11021 22 1 23 0.00301783 0.000266383 0.00208258 0.00301783 0.000266383 0.00208258 5 transition A G A>G 0.000 -0.117 D Asp GAT 0.461 G Gly GGT 0.162 52 14 5 Macaque -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 353.86 0.00 Tolerated 0.45 3.XII good 6.717E-2 0.3311 255 PASS . . . . . . 0.0046 0.0014 0.001 0.007 0.014 . . . . . 0.53846157 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.129 . . 39.0 . . . 0.0003 0.0021 0.003 0.0003 0.0021 0.003 . -1.2546 -1.280 -1.255 c . . . . . 2.445e-03 . . . 0 0.0180 0 0 0 0.0270 0 0.0206 0 0.0166 0 0 0 0.0212 0 0.0206 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.181 . . exonic exonic exonic . . 0.115 0.0046 . . . 0.19 0.28 182 ENSG00000151176 PLBD2 PLBD2 . . . 1.000 0.747 . . . . . . . Likely_benign . 0 . 0.020 . . . . . . . . . 37 . 0.087 . . 0.261 . . . 0.101 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.170 . . . . . 0.175 . 0.043 . HET 0.63 rs200189038 . . . . . . . . . . . . 5.786 3.23E-4 . III.28 -0.459 . 0.400000 . . . . 0.002083 . 0.087 . . . 0 0.0039 0.0015 0.0093 0 0.0022 0.0049 0.0052 0.0080 0.0006 0.0046 0 0.0099 0.0006 0.0023 0.0078 0.0071 . . 0.872 . -0.089 -0.089000 . . 0.400000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.097 . 0.072 -0.089 -0.165 0.003 . . rs200189038 rs200189038 1 1538 10 1/0 0,255,255 +rs201888386 12 118471969 C A - RFC5 9973 Replication factor C subunit 5 NM_007370.6 1 2151 1023 NP_031396.1 P40937 substitution downstream GRCh37 118471969 118471969 Chr12(GRCh37):g.118471969C>A *2886 *2886 NM_007370.6:c.*2886C>A p.? p.? 11 600407 2983 3' 83.6237 8.88219 0.965966 10.1037 83.6237 8.88219 0.965966 10.1037 0 rs201888386 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.001174 0.000125 0.000697 0.002376 0.000053 0.001463 0.001250 0.002408 0.001240 0.002408 325 3 24 24 1 45 158 62 8 276738 24034 34412 10100 18866 30758 126364 25750 6454 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 323 3 24 24 1 43 158 62 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4406 12993 13 0 13 0.00151163 0 0.000999539 0.00151163 0 0.000999539 145 transversion C A C>A 0.000 -0.602 255 PASS . 0. . . . . 0.0002 0.0014 . . . . . . . . 0.5217391 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . . . 0.001 0.0015 . 0.001 0.0015 . 0.2507 . . . . . . . . 1.137e-03 . . . 9.626e-05 0.0012 0.0005 0.0002 0.0016 0.0015 0.0014 0.0016 0.0001 0.0012 0.0004 0.0001 0.0020 0.0014 0.0029 0.0016 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.51 0.7 182 ENSG00000176871 WSB2 WSB2 . . . . . . 75 0.00115427 64976 74 0.00123362 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201888386 . . . . . . . . . . . . . . . . . . . . . . . 0.001000 . . . . . 0 0.0012 0.0007 0.0023 5.798e-05 0.0024 0.0012 0.0013 0.0015 0.0003 0.0013 0.0012 0.0033 0 0.0023 0.0017 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0015 . . rs201888386 rs201888386 1 1538 10 1/0 0,255,255 +rs201888386 12 118471969 C A - WSB2 19222 WD repeat and SOCS box containing 2 NM_001278557.1 -1 2787 1266 NP_001265486.1 substitution 3'UTR GRCh37 118471969 118471969 Chr12(GRCh37):g.118471969C>A *32 *32 NM_001278557.1:c.*32G>T p.? p.? 9 195 3' 88.3938 12.1032 0.98251 7.47797 88.3938 12.1032 0.98251 7.47797 0 Cryptic Acceptor Weakly Activated 118471971 7.51778 0.89415 80.9083 8.51886 0.926513 80.9083 rs201888386 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.001174 0.000125 0.000697 0.002376 0.000053 0.001463 0.001250 0.002408 0.001240 0.002408 325 3 24 24 1 45 158 62 8 276738 24034 34412 10100 18866 30758 126364 25750 6454 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 323 3 24 24 1 43 158 62 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4406 12993 13 0 13 0.00151163 0 0.000999539 0.00151163 0 0.000999539 145 transversion G T G>T 0.000 -0.602 255 PASS . 0. . . . . 0.0002 0.0014 . . . . . . . . 0.5217391 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . . . 0.001 0.0015 . 0.001 0.0015 . 0.2507 . . . . . . . . 1.137e-03 . . . 9.626e-05 0.0012 0.0005 0.0002 0.0016 0.0015 0.0014 0.0016 0.0001 0.0012 0.0004 0.0001 0.0020 0.0014 0.0029 0.0016 . . . . . . UTR3 UTR3 UTR3 . . . 0.0002 . . . 0.51 0.7 182 ENSG00000176871 WSB2 WSB2 . . . . . . 75 0.00115427 64976 74 0.00123362 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201888386 . . . . . . . . . . . . . . . . . . . . . . . 0.001000 . . . . . 0 0.0012 0.0007 0.0023 5.798e-05 0.0024 0.0012 0.0013 0.0015 0.0003 0.0013 0.0012 0.0033 0 0.0023 0.0017 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0015 . . rs201888386 rs201888386 1 1538 10 1/0 0,255,255 +. 12 120126074 A AATG - CIT 1985 Citron rho-interacting serine/threonine kinase NM_001206999.1 -1 8708 6210 NP_001193928.1 insertion intron GRCh37 120126074 120126075 Chr12(GRCh37):g.120126074_120126075insATG 6187-15 6187-14 NM_001206999.1:c.6187-15_6187-14insCAT p.? p.? 48 47 605629 -14 3' 85.3667 X.37 0.981886 10.1824 85.3667 8.53317 0.967576 9.05112 -0.0668769 120126073 -20.2941 CAT 255 Pass . . . . . . . . . . . . . . . . 0.45652175 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000122966 CIT CIT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +rs202209787 12 123461522 G A - OGFOD2 25823 2-oxoglutarate and iron-dependent oxygenase domain containing 2 NM_001304833.1 1 1797 1053 NP_001291762.1 Q6N063 substitution splice site GRCh37 123461522 123461522 Chr12(GRCh37):g.123461522G>A 403+5 403+5 NM_001304833.1:c.403+5G>A p.? p.? 4 4 5 5' 81.6581 8.48112 0.859239 VIII.12 69.5066 2.56284 0.011267 6.69547 -0.611172 rs202209787 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001721 0.000376 0.000058 0.000000 0.000000 0.000780 0.001578 0.009221 0.001088 0.009221 475 9 2 0 0 24 199 234 7 275978 23912 34410 10118 18856 30776 126094 25376 6436 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 3 0 0 0 0 0 0 3 0 469 9 2 0 0 24 199 228 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8332 4045 12377 14 3 17 0.00167745 0.000741107 0.00137163 0.00167745 0.000741107 0.00137163 30 transition G A G>A 0.945 1.658 255 PASS . . . . . . 0.0004 . . 0.002 . . OGFOD2:uc010tak.1:exon3:c.G351A:p.E117E . . . 0.45945945 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . . 0.0007 0.0014 0.0017 0.0007 0.0014 0.0017 . I.03 . . . . . . . . 1.748e-03 . . . 0.0004 0.0012 0 0 0.0092 0.0012 0.0045 0.0009 0.0005 0.0018 0 0 0.0091 0.0020 0.0060 0.0009 . synonymous_SNV . . . . ncRNA_exonic exonic UTR5 . . . 0.0004 . . . 0.66 0.4 182 ENSG00000256028 OGFOD2 OGFOD2 . . NM_001304835:c.-1556G>A . . . 119 0.00183145 64976 117 0.00195046 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202209787 . . . . . . . . . . . . . . . . . . . . 0.9999 0.948 . 0.001372 . . . . 3.V 0.0003 0.0018 5.957e-05 0 0 0.0095 0.0017 0.0011 0.0008 0.0005 0.0015 0 0 0 0.0077 0.0009 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs202209787 rs202209787 1 1538 10 1/0 0,241,255 +rs368752398 12 123470940 C T - PITPNM2 21044 Phosphatidylinositol transfer protein, membrane-associated 2 NM_020845.2 -1 6736 4050 NP_065896.1 Q9BZ72 substitution intron GRCh37 123470940 123470940 Chr12(GRCh37):g.123470940C>T 3726+43 3726+43 NM_020845.2:c.3726+43G>A p.? p.? 25 24 608920 -43 3' 71.647 8.93905 0.198517 9.34623 71.647 8.93905 0.198517 9.44583 0 rs368752398 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.005300 0.000000 0.000000 0.001000 0.000000 0.002140 0.003648 0.000392 0.000000 0.000000 0.000765 0.001578 0.009919 0.001220 0.009919 411 64 10 0 0 18 126 187 6 192066 17544 25512 8032 13820 23540 79848 18852 4918 0.000021 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000212 0.000000 2 0 0 0 0 0 0 2 0 407 64 10 0 0 18 126 183 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8408 4249 12657 12 11 23 0.00142518 0.00258216 0.00181388 0.00142518 0.00258216 0.00181388 10 transition G A G>A 0.000 -0.360 255 PASS . . . . . 0.0053 0.0016 . . 0.001 . . . . . . 0.51502144 . . @ 120 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . 0.0026 0.0018 0.0014 0.0026 0.0018 0.0014 . 0.5016 . . . . . . . . 1.386e-03 . . . 0.0057 0.0024 0.0009 0 0.0556 0.0019 0 0.0013 0.0063 0.0032 0.0010 0 0.0262 0.0036 0 0.0013 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.29 0.23 182 ENSG00000090975 PITPNM2 PITPNM2 . . . . . . 117 0.00180066 64976 108 0.00180042 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs368752398 . . . . . . . . . . . . . . . . . . . . . . . 0.001814 . . . . . 0.0035 0.0021 0.0004 0 0 0.0104 0.0017 0.0013 0.0008 0.0038 0.0024 0 0 0 0.0077 0.0009 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs368752398 rs368752398 1 1538 10 1/0 0,223,236 +rs61955126 12 123892095 T C - KMT5A 29489 Lysine methyltransferase 5A NM_020382.4 1 2792 1059 NP_065115.3 substitution missense exon GRCh37 123892095 123892095 Chr12(GRCh37):g.123892095T>C 904 904 NM_020382.4:c.904T>C p.Cys302Arg p.Cys302Arg 8 607240 56 3' 84.5707 9.70354 0.976068 X.17 84.5707 9.70354 0.976068 X.68 0 SET domain Histone H4-K20 methyltransferase rs61955126 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.992 3.111 C Cys TGT 0.448 R Arg CGT 0.082 302 -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 198 PASS . . . . . . . . . . . . SETD8:uc001uew.3:exon8:c.T904C:p.C302R KMT5A:NM_020382:exon8:c.T904C:p.C302R . . 0.15413533 . . @ 41 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.452 . @ . . . . . 1 0.345 . . 266.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C302R|KMT5A|mRNA|CODING|NM_020382|NM_020382.ex.8) . . . . . . . -0.2259 0.034 -0.226 c . . . . . 7.892e-06 . . . 0 1.103e-05 0 0 0 2.375e-05 0 0 0 9.421e-06 0 0 0 1.841e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.802 . . exonic exonic exonic . . 0.693 @ . . . 0.52 0.56 182 ENSG00000183955 SETD8 KMT5A . . . 0.999 0.390 . . . . . . . Uncertain_significance . 0 . 0.381 . . . . D 0.653 0.053 . . 37 . 0.569 . . 0.582 . . . 0.009 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.644 . . 0 0 0 0 0 0 . 0.158 . . 0.210 . . . . . . 0 0.122 . . . . . 0.730 . 0.572 . HET 0.54 rs61955126 0.033 0.036 . . . . . . . . . . 15.2321 . . 5.XII 5.XII . 0.080000 . . . Name\x3dnsv899579 . . 0.704 . . 5.XII . . . . . . . . . . . . . . . . . . . 0.730 . 2.063 2.063000 . . 0.080000 . . 1.0E-198 1.000 0.715 . 0.562 0.998 . 0.723 . 0.762 2.063 0.991 0.033 rs61955126 rs61955126 rs61955126 rs61955126 1 1538 10 1/0 0,189,255 +rs61955127 12 123892186 T C - KMT5A 29489 Lysine methyltransferase 5A NM_020382.4 1 2792 1059 NP_065115.3 substitution missense exon GRCh37 123892186 123892186 Chr12(GRCh37):g.123892186T>C 995 995 NM_020382.4:c.995T>C p.Leu332Pro p.Leu332Pro 8 607240 147 3' 84.5707 9.70354 0.976068 X.17 84.5707 9.70354 0.976068 X.17 0 SET domain Histone H4-K20 methyltransferase rs61955127 no no 0 T 0.000000 0 COSM4146787|COSM4146787|COSM4146787 Thyroid|Large intestine|Bone 0.001339|0.000896|0.001757 747|2231|569 transition T C T>C 1.000 4.887 L Leu CTC 0.197 P Pro CCC 0.328 332 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 228 PASS . . . . . . . . . . . . SETD8:uc001uew.3:exon8:c.T995C:p.L332P KMT5A:NM_020382:exon8:c.T995C:p.L332P . . 0.23744293 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.783 . @ . . . . . 1 0.970 . . 219.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cCc|L332P|KMT5A|mRNA|CODING|NM_020382|NM_020382.ex.8) . . . . . . . 1.0389 0.912 1.039 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.886 . . exonic exonic exonic . . 0.693 @ . . . 0.49 0.53 182 ENSG00000183955 SETD8 KMT5A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.951 0.493 . . 37 . 0.969 . . 0.987 . . . 0.985 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.910 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.531 . . . . . 0.730 . 0.996 . HET 0.02 rs61955127 . . . . . . . . . . . . 15.2321 . . 5.XII 5.XII . 0.010000 . . . Name\x3dnsv899579 . . 0.892 . . 5.XII . . . . . . . . . . . . . . . . . . . 0.730 . 2.063 2.063000 . . 0.010000 . . 1.0E-228 1.000 0.715 . 0.604 0.997 . 0.886 . 0.762 2.063 0.991 . rs61955127 rs61955127 rs61955127 rs61955127 1 1538 10 1/0 0,205,255 +rs3741614 12 129298819 C T - SLC15A4 23090 Solute carrier family 15, member 4 NM_145648.3 -1 2789 1734 NP_663623.1 Q8N697 substitution intron GRCh37 129298819 129298819 Chr12(GRCh37):g.129298819C>T 842+501 842+501 NM_145648.3:c.842+501G>A p.? p.? 2 2 615806 501 5' 81.1326 VIII.68 0.993149 4.66808 81.1326 VIII.68 0.993149 4.66808 0 New Acceptor Site 129298817 2.38655 0.008657 73.4313 rs3741614 no no 0 T 0.000000 0 transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.5203252 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . INTRON(MODIFIER||||SLC15A4|mRNA|CODING|NM_145648|) . . . . . . . -0.3211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic intronic . . . @ . . . 0.2 0.22 182 ENSG00000139370 AK001057 SLC15A4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3741614 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs3741614 rs3741614 rs3741614 rs3741614 1 1538 10 1/0 0,253,255 +rs140762080 12 129559228 G A - TMEM132D 29411 Transmembrane protein 132D NM_133448.2 -1 5777 3300 NP_597705.2 Q14C87 substitution missense exon GRCh37 129559228 129559228 Chr12(GRCh37):g.129559228G>A 2492 2492 NM_133448.2:c.2492C>T p.Ser831Leu p.Ser831Leu 9 611257 377 3' 88.2006 XI.02 0.996969 XI.51 88.2006 XI.02 0.996969 XI.51 0 Cryptic Acceptor Strongly Activated 129559223 II.04 0.008938 70.755 3.85981 0.017561 74.3006 rs140762080 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000000 0.003100 0.000000 0.006000 0.004300 0.007789 0.001665 0.005782 0.030831 0.000000 0.005880 0.009416 0.005894 0.012531 0.030831 2159 40 199 313 0 181 1193 152 81 277196 24024 34420 10152 18868 30782 126696 25790 6464 0.000087 0.000000 0.000000 0.000788 0.000000 0.000065 0.000111 0.000000 0.000000 12 0 0 4 0 1 7 0 0 2135 40 199 305 0 179 1179 152 81 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4396 12922 74 10 84 0.00860465 0.00226963 0.00645856 0.00860465 0.00226963 0.00645856 126 transition C T C>T 0.000 -0.682 S Ser TCG 0.056 L Leu TTG 0.127 831 19 3 Fugu -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 353.86 0.00 Tolerated 1 II.90 good 9.994E-1 0.05884 255 PASS . 0.0023 0.0028 . 0.01 . 0.0024 0.0043 . 0.006 0.0031 . . TMEM132D:NM_133448:exon9:c.C2492T:p.S831L . . 0.5508982 . . @ 92 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.002 . . 167.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S831L|TMEM132D|mRNA|CODING|NM_133448|NM_133448.ex.9) 0.0023 0.0065 0.0086 0.0023 0.0065 0.0086 . -1.4878 -1.489 -1.488 c . . . . . 7.664e-03 . . . 0.0013 0.0084 0.0063 0 0.0079 0.0129 0.0168 0.0056 0.0014 0.0073 0.0061 0 0.0074 0.0100 0.0173 0.0056 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.098 . . exonic exonic exonic . . 0.067 0.0024 . . . 0.26 0.3 182 ENSG00000151952 TMEM132D TMEM132D . . . 0.000 0.035 . 542 0.00834154 64976 530 0.00883539 59986 Likely_benign . 0 . 0.024 . . . . . . . . . 37 . 0.024 . . 0.295 . . . 0.008 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.178 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.054 . . . . . 0.003 . 0.044 . HET 0.71 rs140762080 . . . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 0.365 0.00214 . 4.II -2.15 . . . . . . 0.006459 . 0.057 . . . 0.0012 0.0080 0.0059 0.0315 0 0.0054 0.0095 0.0139 0.0059 0.0024 0.0063 0.0024 0.0099 0 0.0089 0.0088 0.0051 . . 0.372 . -0.525 -0.525000 . . . . . 1.0E-255 0.000 0.063 . 0.016 0.133 . 0.139 . 0.039 -0.525 -1.251 0.01 . . rs140762080 rs140762080 1 1538 10 1/0 0,242,255 +. 12 131620708 G T - ADGRD1 19893 Adhesion G protein-coupled receptor D1 NM_198827.3 1 5386 2625 NP_942122.2 Q6QNK2 substitution missense exon GRCh37 131620708 131620708 Chr12(GRCh37):g.131620708G>T 2394 2394 NM_198827.3:c.2394G>T p.Gln798His p.Gln798His 22 613639 -1 5' 90.3087 9.21919 0.956239 17.0505 77.6937 3.73375 0.342832 7.14037 -0.458723 GPCR, family 2, secretin-like GPCR, family 2-like transversion G T G>T 1.000 0.851 Q Gln CAG 0.744 H His CAT 0.413 798 12 10 C. elegans 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 251.61 0.00 Deleterious 0.04 II.88 bad 1.5E-3 7.584E-5 255 PASS . . . . . . . . . . . . . ADGRD1:NM_198827:exon22:c.G2394T:p.Q798H . . 0.44047618 . . @ 37 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.692 . @ . . . . . 1 0.771 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q798H|ADGRD1|mRNA|CODING|NM_198827|NM_198827.ex.22) . . . . . . . 0.5935 0.461 0.593 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.310 @ . . . . . . ENSG00000111452 GPR133 ADGRD1 . . . 0.000 0.065 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.778 . . 0.809 . . . 0.929 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.806 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.351 . 0.868 . HET 0 . . . . . . . . . . . . . 9.0033 . ENST00000335486 4.VI II.72 . 0.000000 . 0.9999 0.988 . . . . . . II.72 . . . . . . . . . . . . . . . . . . . 0.428 . 2.081 2.081000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.384 0.888 . 0.344 . 0.613 2.081 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs113699352 12 132269830 G A - SFSWAP 10790 Splicing factor, suppressor of white-apricot family NM_001261411.1 1 3405 3012 NP_001248340.1 substitution intron GRCh37 132269830 132269830 Chr12(GRCh37):g.132269830G>A 2564+57 2564+57 NM_001261411.1:c.2564+57G>A p.? p.? 15 15 601945 57 5' 72.4613 2.56719 0.203889 0 72.4613 2.56719 0.203889 0 0 rs113699352 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.602 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.2545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.27 182 ENSG00000061936 SFSWAP SFSWAP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs113699352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs113699352 rs113699352 1 1538 10 1.I 0,0,0 +rs74749868 12 132399004 C G - ULK1 12558 Unc-51-like kinase 1 (C. elegans) NM_003565.2 1 5222 3153 NP_003556.1 O75385 substitution missense exon GRCh37 132399004 132399004 Chr12(GRCh37):g.132399004C>G 1355 1355 NM_003565.2:c.1355C>G p.Thr452Ser p.Thr452Ser 16 603168 -19 5' 82.5954 11.1124 0.994091 XI.15 82.5954 11.1124 0.994091 12.0682 0 Serine/threonine-protein kinase, Ulk1/Ulk2 rs74749868 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.000000 0.001000 0.000000 0.019900 0.007200 0.008602 0.002010 0.005877 0.000299 0.000053 0.000683 0.014523 0.008687 0.008901 0.014523 2358 48 202 3 1 21 1803 223 57 274132 23884 34372 10048 18848 30760 124146 25670 6404 0.000146 0.000000 0.000058 0.000000 0.000000 0.000000 0.000258 0.000156 0.000312 20 0 1 0 0 0 16 2 1 2318 48 200 3 1 21 1771 219 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8484 4397 12881 114 7 121 0.0132589 0.00158946 0.00930626 0.0132589 0.00158946 0.00930626 55 transversion C G C>G 0.008 0.448 T Thr ACC 0.361 S Ser AGC 0.243 452 10 8 Cow 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 71.41 56.93 Tolerated 0.42 III.95 good 6.803E-1 0.2058 255 PASS . 0.01 0.01 . 0.03 . 0.0052 0.0072 . 0.02 0.001 ENSG00000177169:ENST00000321867:exon16:c.C1355G:p.T452S ULK1:uc001uje.3:exon16:c.C1355G:p.T452S ULK1:NM_003565:exon16:c.C1355G:p.T452S . . 0.46456692 . . @ 59 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.046 . @ . . . . . 1 0.016 . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T452S|ULK1|mRNA|CODING|NM_003565|NM_003565.ex.16) 0.0016 0.0093 0.013 0.0016 0.0093 0.013 . -0.8884 -0.881 -0.888 c . . . . . 9.287e-03 . . . 0.0023 0.0076 0.0053 0 0.0104 0.0133 0.0091 0.0006 0.0021 0.0095 0.0052 0 0.0115 0.0154 0.0060 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.679 . . exonic exonic exonic . . 0.258 0.0052 . . . 0.47 0.38 182 ENSG00000177169 ULK1 ULK1 . . . 0.947 0.277 . 722 0.0111118 64976 697 0.0116194 59986 Benign . 0 . 0.135 . . . . . . . . . 37 . 0.241 . . 0.164 . . . 0.124 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.168 . . . . . 0.052 . 0.016 . HET 0.76 rs74749868 . . . . . . . 0.009615384615384616 0.0 0.0055248618784530384 0.0 0.025065963060686015 II.82 0.001606 ENST00000321867 V.25 2.VI . 0.820000 O75385 . . . 0.009306 . 0.226 . . 2.VI 0.0020 0.0086 0.0058 0.0003 5.805e-05 0.0085 0.0148 0.0081 0.0007 0.0019 0.0084 0.0084 0 0 0.0100 0.0125 0.0132 . . 0.730 . 1.178 1.178000 . . 0.820000 . . 1.0E-255 0.001 0.137 . 0.235 0.676 . 0.250 . 0.362 1.178 -0.058 0.03 . . rs74749868 rs74749868 1 1538 10 1/0 0,249,255 +rs116870851 12 132512070 G A - EP400 11958 E1A binding protein p400 NM_015409.4 1 12317 9372 NP_056224.3 substitution synonymous exon GRCh37 132512070 132512070 Chr12(GRCh37):g.132512070G>A 5103 5103 NM_015409.4:c.5103G>A p.Pro1701= p.Pro1701Pro 26 606265 -7 5' 94.2214 9.88355 0.998887 X.94 94.2214 9.88355 0.999033 X.24 4.87209e-05 rs116870851 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.010900 0.002900 0.006627 0.001335 0.001290 0.004033 0.000000 0.000660 0.007713 0.026454 0.006274 0.026454 1816 32 44 40 0 20 964 676 40 274032 23972 34100 9918 18810 30314 124988 25554 6376 0.000109 0.000000 0.000000 0.000000 0.000000 0.000066 0.000032 0.000939 0.000000 15 0 0 0 0 1 2 12 0 1786 32 44 40 0 18 960 652 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8547 4399 12946 53 7 60 0.00616279 0.00158874 0.00461326 0.00616279 0.00158874 0.00461326 42 transition G A G>A 0.000 -3.184 P Pro CCG 0.115 P Pro CCA 0.274 1701 255 PASS . 0.01 0.01 . 0.01 . 0.0026 0.0029 . 0.011 . . . EP400:NM_015409:exon26:c.G5103A:p.P1701P . . 0.41758242 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 91.0 . . . 0.0016 0.0046 0.0062 0.0016 0.0046 0.0062 . -0.1197 . . . . . . . . 6.568e-03 . . . 0.0011 0.0051 0.0012 0 0.0293 0.0071 0.0110 0.0008 0.0009 0.0064 0.0012 0 0.0280 0.0083 0.0097 0.0008 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.26 0.23 182 ENSG00000183495 EP400 EP400 . . . . . . 522 0.00803374 64976 509 0.00848531 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116870851 . . . . . . . . . . . . . . . . . . . . . . . 0.004613 . . . . . 0.0011 0.0066 0.0013 0.0041 0 0.0268 0.0078 0.0056 0.0007 0.0017 0.0070 0.0012 0.0033 0 0.0240 0.0071 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs116870851 rs116870851 1 1538 10 1/0 0,255,255 +. 12 132630819 C T - DDX51 20082 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 NM_175066.3 -1 4718 2001 NP_778236.2 Q8N8A6 substitution upstream GRCh37 132630819 132630819 Chr12(GRCh37):g.132630819C>T -1978 -1978 NM_175066.3:c.-1978G>A p.? p.? 1 -2282 5' 79.7784 8.06623 0.442 X.77 79.7784 8.06623 0.442 X.77 0 rs1052997943 yes no Frequency 1 C 0.000000 0 0.000041 0.000171 0.000000 0.000000 0.000000 0.000045 0.000067 0.000000 0.000000 0.000171 5 1 0 0 0 1 3 0 0 123202 5838 23624 7862 9846 22444 44794 5308 3486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition G A G>A 0.016 0.367 255 PASS . . . . . . . . . . . ENSG00000184967:ENST00000541954:exon3:c.C155T:p.A52V . . . . 0.45925927 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.116 . @ . . . . . 2 0.524 . . 135.0 . . . . . . . . . . -0.7184 -0.958 -0.718 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.154 @ . . . . . . ENSG00000184967 NOC4L NOC4L . . . 1.000 0.411 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.335 . . 0.287 . . . . 0.090 . . . . . . . . . . . . . . . 0.085 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . . . 0.064 . HET . . . . . . . . . . . . . . . . ENST00000541954 0.392 0.392 . 0.230000 . . . . . . 0.037 . . . 0.0002 4.058e-05 0 0 0 0 6.697e-05 0 4.456e-05 . . . . . . . . . . 0.283 . 0.431 0.431000 . . 0.230000 . . 1.0E-255 0.003 0.159 . 0.083 0.016 . 0.084 . 0.283 0.431 0.000 . . . . . 1 1538 10 1/0 0,242,255 +. 12 132630819 C T - NOC4L 28461 Nucleolar complex associated 4 homolog NM_024078.2 1 1685 1551 NP_076983.1 Q9BVI4 substitution intron GRCh37 132630819 132630819 Chr12(GRCh37):g.132630819C>T 345+609 345+609 NM_024078.2:c.345+609C>T p.? p.? 3 3 612819 609 5' 85.2503 8.22968 0.962954 5.51816 85.2503 8.22968 0.962954 5.51816 0 rs1052997943 yes no Frequency 1 C 0.000000 0 0.000041 0.000171 0.000000 0.000000 0.000000 0.000045 0.000067 0.000000 0.000000 0.000171 5 1 0 0 0 1 3 0 0 123202 5838 23624 7862 9846 22444 44794 5308 3486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 PASS 61 Exomes transition C T C>T 0.016 0.367 255 PASS . . . . . . . . . . . ENSG00000184967:ENST00000541954:exon3:c.C155T:p.A52V . . . . 0.45925927 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.116 . @ . . . . . 2 0.524 . . 135.0 . . . . . . . . . . -0.7184 -0.958 -0.718 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.154 @ . . . . . . ENSG00000184967 NOC4L NOC4L . . . 1.000 0.411 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.335 . . 0.287 . . . . 0.090 . . . . . . . . . . . . . . . 0.085 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . . . 0.064 . HET . . . . . . . . . . . . . . . . ENST00000541954 0.392 0.392 . 0.230000 . . . . . . 0.037 . . . 0.0002 4.058e-05 0 0 0 0 6.697e-05 0 4.456e-05 . . . . . . . . . . 0.283 . 0.431 0.431000 . . 0.230000 . . 1.0E-255 0.003 0.159 . 0.083 0.016 . 0.084 . 0.283 0.431 0.000 . . . . . 1 1538 10 1/0 0,242,255 +. 12 133201440 GAGGAGGCCA G - POLE 9177 DNA polymerase epsilon, catalytic subunit NM_006231.3 -1 8005 6861 NP_006222.2 Q07864 deletion intron GRCh37 133201441 133201449 Chr12(GRCh37):g.133201441_133201449del 6747+42 6748-45 NM_006231.3:c.6747+42_6748-45del p.? p.? 48 48 174762 42 5' 79.7784 8.06623 0.844804 8.37027 79.7784 8.06623 0.844804 8.40571 0 rs148604472 yes no Frequency/1000G 2 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 218404 13734 28704 8922 16168 29658 97038 19292 4888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 85 Exomes 7164 3696 10860 1090 568 1658 0.132057 0.133208 0.132449 0.132057 0.133208 0.132449 90 TGGCCTCCT 255 Pass 0.11 0.11 0.18 0.07 0.12 . . . . . . . . . . . 0.38613862 . . . 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 101 . . . 0.14 0.13 0.13 0.13 0.13 0.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000177084 POLE POLE . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs148604472 . . . . . . . . . . . . . . . . . . . . . . . 0.134904 . . . . . 0 4.579e-06 0 0 0 0 1.031e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.18 . . rs148604472 rs148604472 1 1538 10 1.I 0,12,41 +rs200926632 12 133201452 G C - POLE 9177 DNA polymerase epsilon, catalytic subunit NM_006231.3 -1 8005 6861 NP_006222.2 Q07864 substitution intron GRCh37 133201452 133201452 Chr12(GRCh37):g.133201452G>C 6747+39 6747+39 NM_006231.3:c.6747+39C>G p.? p.? 48 48 174762 39 5' 79.7784 8.06623 0.844804 8.37027 79.7784 8.06623 0.844804 8.24435 0 rs200926632 yes no Frequency/1000G 2 G 0.000000 0 8545 4390 12935 55 16 71 0.00639535 0.00363141 0.00545902 0.00639535 0.00363141 0.00545902 86 transversion C G C>G 0.000 0.770 255 PASS 0.06 0.05 0.08 0.03 0.05 . . . . . . . . . . . 0.39 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . 0.0036 0.0055 0.0064 0.0036 0.0055 0.0064 . 0.0790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.13 182 ENSG00000177084 POLE POLE . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 8 . . . . . . . . . . HET . rs200926632 . . . . . . . . . . . . . . . . . . . . . . . 0.005459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.08 . . rs200926632 rs200926632 1 1538 10 1/0 0,251,255 +rs199870613 12 133424785 G A - CHFR 20455 Checkpoint with forkhead and ring finger domains NM_001161344.1 -1 3281 1995 NP_001154816.1 Q96EP1 substitution intron GRCh37 133424785 133424785 Chr12(GRCh37):g.133424785G>A 1613-44 1613-44 NM_001161344.1:c.1613-44C>T p.? p.? 14 13 605209 -44 3' 83.0499 7.97253 0.842743 VIII.05 83.0499 7.97253 0.842743 8.74386 0 rs199870613 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.000000 0.001400 0.000047 0.000501 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000501 13 12 0 0 0 0 1 0 0 276558 23972 34348 10134 18852 30662 126376 25758 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 12 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4403 13003 0 3 3 0 0.00068089 0.000230663 0 0.00068089 0.000230663 59 transition C T C>T 0.000 -1.570 255 PASS . 0.0005 0.0028 . . 0.0008 0.0004 0.0014 . . . . . . . . 0.4642857 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . -1.0369 . . . . . . . . 6.314e-05 . . . 0.0006 8.513e-05 0 0 0 2.602e-05 0 0 0.0006 6.291e-05 0 0 0 2.046e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.54 0.2 182 ENSG00000072609 CHFR CHFR . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs199870613 . . . . . . . 4.578754578754579E-4 0.0 0.0027624309392265192 0.0 0.0 III.77 8.03E-4 ENST00000541228 IV.23 -7.88 . 0.000000 . . . . 0.000231 . . . . . 0.0005 3.665e-05 0 0 0 0 8.98e-06 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . -1.660 -1.660000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -1.660 . 0.0028 . . rs199870613 rs199870613 1 1538 10 1/0 0,255,255 +rs4758930 12 133578159 A G - ZNF26 13053 Zinc finger protein 26 NM_001256279.1 1 3281 1701 NP_001243208.1 substitution intron GRCh37 133578159 133578159 Chr12(GRCh37):g.133578159A>G 34-60 34-60 NM_001256279.1:c.34-60A>G p.? p.? 2 1 194537 -60 3' 86.294 XII.54 0.970683 9.02414 86.294 XII.54 0.970683 9.04768 0 Cryptic Acceptor Weakly Activated 133578165 7.84257 0.428756 78.0503 8.1392 0.489624 78.0503 rs4758930 yes no Frequency/HapMap/1000G 3 A 0.000000 0 transition A G A>G 0.000 -3.426 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . -1.1752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.58 0.27 182 ENSG00000198393 ZNF26 ZNF26 . . . . . . 61777 0.950766 64976 57160 0.952889 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs4758930 0.783 0.797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.78 rs4758930 rs4758930 rs4758930 rs114128839 1 1538 255 1.I 0,0,255 +rs200216202 12 133618038 C T - ZNF84 13159 Zinc finger protein 84 NM_001127372.2 1 7048 2217 NP_001120844.1 P51523 substitution 5'UTR GRCh37 133618038 133618038 Chr12(GRCh37):g.133618038C>T -16 -16 NM_001127372.2:c.-16C>T p.? p.? 2 -31 5' 95.6376 X.36 0.991777 13.9136 95.6376 X.36 0.991777 13.5194 0 Cryptic Acceptor Weakly Activated 133618045 4.72456 0.050947 79.3111 4.91809 0.100192 80.8217 rs200216202 yes no Frequency/1000G 2 0.000000 0 transition C T C>T 0.000 -0.682 255 PASS 0.02 0.02 0.02 0.01 0.02 . . . . . . . . . . . 0.42222223 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . . . . . . . . . -0.2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.64 0.42 182 ENSG00000198040 ZNF84 ZNF84 . . . . . . 353 0.00543278 64976 347 0.00578468 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200216202 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs200216202 rs200216202 1 1538 10 1/0 0,255,255 +rs7314140 12 133625276 A T - ZNF84 13159 Zinc finger protein 84 NM_001127372.2 1 7048 2217 NP_001120844.1 P51523 substitution intron GRCh37 133625276 133625276 Chr12(GRCh37):g.133625276A>T 143-63 143-63 NM_001127372.2:c.143-63A>T p.? p.? 4 3 -63 3' 93.2269 X.75 0.883026 VII.14 93.2269 X.75 0.883026 7.57491 0 Cryptic Acceptor Strongly Activated 133625283 IV.99 0.517359 75.0502 4.69929 0.867234 80.0513 rs7314140 yes no Frequency/HapMap/1000G 3 A 0.000000 0 transversion A T A>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.9714286 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.2974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.58 0.24 182 ENSG00000198040 ZNF84 ZNF84 . . . . . . 23525 0.362057 64976 22007 0.366869 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs114433683 0.424 0.435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 rs7314140 rs7314140 rs7314140 rs114433683 1 1538 255 1.I 0,0,255 +rs2088683 12 133677349 G T - ZNF140 12925 Zinc finger protein 140 NM_003440.3 1 3315 1374 NP_003431.2 P52738 substitution intron GRCh37 133677349 133677349 Chr12(GRCh37):g.133677349G>T 233-4747 233-4747 NM_003440.3:c.233-4747G>T p.? p.? 5 4 604082 -4747 3' 84.4379 X.43 0.978682 8.00895 84.4379 X.43 0.978682 8.00895 0 New Donor Site 133677347 2.51876 0.119154 61.8621 rs2088683 yes no Frequency/HapMap 2 G 0.000000 0 transversion G T G>T 0.063 0.044 255 PASS . . . . . . . . . . . . . . . . 0.35 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.3583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.17 182 ENSG00000196387 ZNF140 ZNF140 . . . . . . 3021 0.0464941 64976 2987 0.049795 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2088683 0.033 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs2088683 rs2088683 rs2088683 rs2088683 1 1538 10 1/0 0,255,255 +rs2316162 12 133677542 T C - ZNF140 12925 Zinc finger protein 140 NM_003440.3 1 3315 1374 NP_003431.2 P52738 substitution intron GRCh37 133677542 133677542 Chr12(GRCh37):g.133677542T>C 233-4554 233-4554 NM_003440.3:c.233-4554T>C p.? p.? 5 4 604082 -4554 3' 84.4379 X.43 0.978682 8.00895 84.4379 X.43 0.978682 8.00895 0 rs2316162 yes no Frequency/1000G 2 T 0.000000 0 transition T C T>C 0.315 0.044 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . -0.1160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.18 182 ENSG00000196387 ZNF140 ZNF140 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115557381 0.261 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.26 rs2316162 rs2316162 rs2316162 rs115557381 1 1538 10 1/0 0,255,255 +rs75800806 13 19447685 C A - ANKRD20A9P 42023 Ankyrin repeat domain 20 family, member A9, pseudogene NR_027995.1 -1 37567 0 substitution upstream GRCh37 19447685 19447685 Chr13(GRCh37):g.19447685C>A -1576 -1576 NR_027995.1:n.-1576G>T p.? p.? 1 rs75800806 yes no Frequency 1 0.000000 0 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000133 2 0 0 0 0 0 2 0 0 30948 8730 838 302 1622 0 14986 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 50 Genomes transversion G T G>T 0.000 -0.763 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 37.0 . . UPSTREAM(MODIFIER||||ANKRD20A9P|Non-coding_transcript|NON_CODING|NR_027995|) . . . . . . . -0.3330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . 0.32 0.26 182 . . . dist\x3d1578\x3bdist\x3d6509 dist\x3d1576\x3bdist\x3d31894 dist\x3d1576\x3bdist\x3d31894 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75800806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.462e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs75800806 rs75800806 1 1538 10 1/0 0,255,255 +rs528635259 13 20000621 T C - TPTE2 17299 Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 NM_199254.2 -1 1965 1569 NP_954863.2 Q6XPS3 substitution missense exon GRCh37 20000621 20000621 Chr13(GRCh37):g.20000621T>C 1339 1339 NM_199254.2:c.1339A>G p.Asn447Asp p.Asn447Asp 19 606791 37 3' 77.5282 8.26246 0.90995 VI.15 77.5282 8.26246 0.90995 6.97152 0 Tensin phosphatase, C2 domain rs528635259 yes no Frequency 1 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 276662 23914 34370 10144 18848 30744 126498 25692 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6405889 Thyroid 0.002677 747 transition A G A>G 0.000 -3.669 N Asn AAT 0.464 D Asp GAT 0.461 447 12 4 Mouse 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 115.21 0.00 Tolerated 0.76 III.41 good 5.653E-1 0.207 213 PASS . . . . . . . . . . . . . . . . 0.19642857 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.011 . . 56.0 . . . . . . . . . . -2.0219 -2.116 -2.022 c . . . . . 3.947e-05 . . . 0.0003 5.53e-05 0 0 0 4.749e-05 0 0 0.0003 4.722e-05 0 0 0 3.682e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.848 . . exonic exonic exonic . . 0.036 @ . . . . . . ENSG00000132958 TPTE2 TPTE2 . . . 0.099 0.163 . . . . . . . Uncertain_significance . 0 . 0.086 . . . . T 0.453 0.022 . . 37 . 0.584 . . 0.298 . . . 0.016 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.219 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.050 . . . . . 0.023 . 0.059 . HET 0.64 rs528635259 0.076 0.072 . . . . . . . . . . I.65 . . 2.VI -4.12 . . . . . . . . 0.014 . . . 0 4.067e-06 0 0 0 0 0 0 3.253e-05 0 0 0 0 0 0 0 0 . . 0.246 . -3.854 -3.854000 . . . . . 1.0E-213 0.000 0.063 . 0.043 0.001 . 0.039 . 0.010 -3.854 -0.891 0.076 . . . . 1 1538 10 1/0 0,255,255 +rs78472618 13 20066994 T C - TPTE2 17299 Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 NM_199254.2 -1 1965 1569 NP_954863.2 Q6XPS3 substitution missense exon GRCh37 20066994 20066994 Chr13(GRCh37):g.20066994T>C 115 115 NM_199254.2:c.115A>G p.Lys39Glu p.Lys39Glu 4 606791 -5 5' 95.331 X.37 0.994309 0 95.331 X.37 0.993339 0.50601 -0.000325184 Cryptic Acceptor Strongly Activated 20066995 4.34367 0.006658 74.1352 5.25748 0.012211 74.1352 rs78472618 yes no Frequency 1 T 0.000000 0 0.004783 0.014778 0.011371 0.000916 0.013628 0.003883 0.000891 0.004912 0.004656 0.014778 1224 282 352 9 215 114 108 116 28 255886 19082 30956 9820 15776 29360 121264 23614 6014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1224 282 352 9 215 114 108 116 28 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM226286|COSM226286|COSM226286|COSM226286|COSM226286|COSM226286 Thyroid|Skin|Prostate|Pancreas|Liver|Large intestine 0.002677|0.000812|0.001134|0.000569|0.000422|0.000448 747|1232|1764|1758|2371|2231 transition A G A>G 0.000 -0.602 K Lys AAA 0.425 E Glu GAA 0.417 39 12 5 Mouse 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 149.23 0.00 Tolerated 0.95 III.41 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . . . . 0.3809524 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.016 . . 21.0 . . . . . . . . . . -1.4544 -1.569 -1.454 c . . . . . 7.025e-04 . . . 0.0036 0.0008 0.0005 0.0016 0 0.0004 0 0.0001 0.0010 0.0001 0.0002 0 0 0 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.951 . . exonic exonic exonic . . 0.081 @ . . . 0.16 0.09 182 ENSG00000132958 TPTE2 TPTE2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.274 . . . . T 0.115 0.005 . . 37 . 0.839 . . 0.697 . . . 0.024 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.073 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.282 . . . . . 0.103 . 0.182 . HET 0 rs78472618 . . . . . . . . . . . . IV.42 . . 1.III -1.53 . . . . . . . . 0.003 . . . 0.0134 0.0045 0.0114 0.0008 0.0134 0.0052 0.0007 0.0047 0.0039 0.0176 0.0072 0.0107 0.0038 0.0159 0.0028 0.0026 0.0046 . . 0.428 . -0.630 -0.630000 . . . . . 1.0E-255 0.000 0.063 . 0.016 0.004 . 0.021 . 0.016 -0.630 -0.526 . . . rs78472618 rs78472618 1 1538 10 1/0 0,255,255 +rs200516102 13 20279879 T C - PSPC1 20320 Paraspeckle component 1 NM_001042414.3 -1 2401 1572 NP_001035879.1 Q8WXF1 substitution missense exon GRCh37 20279879 20279879 Chr13(GRCh37):g.20279879T>C 1309 1309 NM_001042414.3:c.1309A>G p.Met437Val p.Met437Val 9 612408 -78 5' 71.0227 IV.44 0.236151 0 71.0227 IV.44 0.236151 0 0 New Donor Site 20279880 3.06578 0.044143 64.5067 rs200516102 yes no Frequency 1 T 0.000000 0 0.000572 0.002253 0.000327 0.000000 0.000319 0.000266 0.000564 0.000118 0.000960 0.002253 154 51 11 0 6 8 69 3 6 269136 22640 33618 9896 18804 30036 122416 25478 6248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 154 51 11 0 6 8 69 3 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1317936|COSM1317936|COSM1317936 Upper aerodigestive tract|Liver|Haematopoietic and lymphoid tissue 0.001606|0.000422|0.000283 1245|2371|3530 transition A G A>G 0.992 0.528 M Met ATG 1.000 V Val GTG 0.468 437 12 7 Chicken 1 1 1 0 0 5.VII 5.IX 105 84 21 C0 257.76 0.00 Tolerated 0.6 III.47 237 PASS . . . . . . . . . . . ENSG00000121390:ENST00000338910:exon8:c.A1309G:p.M437V PSPC1:uc021rgx.1:exon9:c.A1309G:p.M437V PSPC1:NM_001042414:exon9:c.A1309G:p.M437V . . 0.26785713 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.141 . . 56.0 . . . . . . . . . . -0.4521 -0.271 -0.452 c . . . . . 4.099e-03 . . . 0.0093 0.0033 0.0022 0.0005 0.0008 0.0040 0 0.0004 0.0081 0.0021 0.0020 0 0.0005 0.0023 0.0015 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.133 . . exonic exonic exonic . . 0.334 @ . . . 0.42 0.42 182 ENSG00000121390 PSPC1 PSPC1 . . . 0.309 0.193 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.078 0.003 . . 37 . 0.085 . . 0.263 . . . 0.413 0.294 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.160 . . 0 0 0 0 0 0 . 0.151 . . 0.121 . . . . . . 2 0.101 . . . . . 0.354 . 0.379 . HET 0.33 rs200516102 . . . . . . . . . . . . 9.0578 . . V.29 II.98 . 0.570000 Q8WXF1 . . . . . 0.364 . . II.98 0.0020 0.0005 0.0003 0 0.0002 0.0001 0.0006 0.0009 0.0003 0.0027 0.0009 0 0 0.0012 0 0.0002 0.0010 . . 0.924 . 0.844 0.844000 . . 0.570000 . . 1.0E-237 1.000 0.715 . 0.888 0.998 . 0.281 . 0.425 0.844 -0.013 . . . rs200516102 rs200516102 1 1538 10 1/0 0,255,255 +rs185714432 13 20637071 A G - ZMYM2 12989 Zinc finger MYM-type containing 2 NM_001190964.2 1 10154 4134 NP_001177893.1 Q9UBW7 substitution synonymous exon GRCh37 20637071 20637071 Chr13(GRCh37):g.20637071A>G 2997 2997 NM_001190964.2:c.2997A>G p.Pro999= p.Pro999Pro 19 602221 -41 5' 67.9887 6.43132 0.759052 3.18538 67.9887 6.43132 0.759052 3.41565 0 New Donor Site 20637070 2.70583 0.09508 61.9655 rs185714432 yes no Frequency/1000G 2 A 0.000000 0 0.001198 0.000800 0.001000 0.000000 0.001000 0.004300 0.001205 0.000347 0.000486 0.000816 0.000000 0.000906 0.001940 0.000397 0.002902 0.001940 317 8 16 8 0 26 231 10 18 263150 23078 32890 9798 18174 28700 119096 25212 6202 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000322 1 0 0 0 0 0 0 0 1 315 8 16 8 0 26 231 10 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8185 3732 11917 23 0 23 0.00280214 0 0.0019263 0.00280214 0 0.0019263 89 COSM5019295 Soft tissue 0.001767 566 transition A G A>G 0.984 -0.279 P Pro CCA 0.274 P Pro CCG 0.115 999 255 PASS . 0.0014 0.01 . 0.0013 0.0008 0.0012 0.0043 . 0.001 0.001 . . . . . 0.44186047 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . 0.0019 0.0028 . 0.0019 0.0028 . I.77 . . . . . . . . 1.281e-03 . . . 0.0002 0.0023 0.0017 0 0.0016 0.0040 0.0024 0.0014 0.0002 0.0022 0.0018 0 0.0010 0.0037 0.0028 0.0014 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.42 0.17 182 ENSG00000121741 ZMYM2 ZMYM2 . . . . . . 80 0.00123122 64976 74 0.00123362 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185714432 . . . . . . . . . . . . . . . . . . . . . . . 0.001926 . . . . . 0.0003 0.0012 0.0004 0.0008 0 0.0004 0.0020 0.0033 0.0009 0.0005 0.0009 0.0024 0 0 0.0003 0.0013 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs185714432 rs185714432 1 1538 10 1/0 0,255,255 +rs542377365 13 25027623 T G - PARP4 271 Poly (ADP-ribose) polymerase family, member 4 NM_006437.3 -1 5469 5175 NP_006428.2 Q9UKK3 substitution intron GRCh37 25027623 25027623 Chr13(GRCh37):g.25027623T>G 2826+102 2826+102 NM_006437.3:c.2826+102A>C p.? p.? 23 23 607519 102 5' 86.8199 10.1256 0.989275 5.96394 86.8199 10.1256 0.989275 5.96394 0 rs542377365 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000518 0.000000 0.000000 0.000000 0.000000 0.000000 0.000935 0.000288 0.001018 0.000935 16 0 0 0 0 0 14 1 1 30892 8710 836 302 1618 0 14974 3470 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 0 0 0 0 14 1 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion A C A>C 0.000 -2.216 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.55172414 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||PARP4|mRNA|CODING|NM_006437|) . . . . . . . -0.6417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000205822 PARP4 PARP4 . . . . . . 7 0.000107732 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs542377365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0 0 0.0003 0.0009 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs9507413 13 25373634 A G - RNF17 10060 Ring finger protein 17 NM_031277.2 1 5108 4872 NP_112567.2 Q9BXT8 substitution missense exon GRCh37 25373634 25373634 Chr13(GRCh37):g.25373634A>G 1501 1501 NM_031277.2:c.1501A>G p.Ser501Gly p.Ser501Gly 12 605793 -89 5' 71.4086 5.84705 0.346028 0 71.4086 5.84705 0.346028 0 0 Cryptic Acceptor Strongly Activated 25373645 0.003403 4.90552 0.005115 72.7878 Maternal tudor protein rs9507413 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.001997 0.000800 0.001000 0.000000 0.005000 0.004300 0.004118 0.000749 0.001457 0.000493 0.000000 0.002051 0.006905 0.004269 0.003255 0.006905 1139 18 50 5 0 63 872 110 21 276562 24022 34308 10142 18862 30720 126286 25770 6452 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000000 0.000000 3 0 0 0 0 0 3 0 0 1133 18 50 5 0 63 866 110 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8530 4398 12928 66 8 74 0.00767799 0.00181571 0.00569143 0.00767799 0.00181571 0.00569143 102 transition A G A>G 1.000 1.335 S Ser AGT 0.149 G Gly GGT 0.162 501 11 6 Cow 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 208.58 0.00 Tolerated 0.78 III.64 unknown 0.0 0.0 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.002 0.0043 . 0.005 0.001 . . . . . 0.5 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.313 . @ . . . . . 1 0.119 . . 40.0 . . . 0.0018 0.0057 0.0077 0.0018 0.0057 0.0077 . -0.4914 -0.306 -0.491 c . . . . . 4.388e-03 . . . 0.0010 0.0038 0.0022 0 0.0039 0.0063 0.0056 0.0017 0.0008 0.0041 0.0021 0 0.0039 0.0064 0.0029 0.0017 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.263 . . exonic exonic exonic . . 0.336 0.0020 . . . 0.32 0.29 182 ENSG00000132972 RNF17 RNF17 . . . 0.000 0.052 . 427 0.00657166 64976 419 0.00698496 59986 Uncertain_significance . 0 . 0.357 . . . . T 0.168 0.006 . . 37 . 0.077 . . 0.144 . . . 0.413 0.255 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.103 . . 0 0 0 0 0 0 . 0.090 . . 0.104 . . . . . . 0 0.072 . . . . . 0.140 . 0.058 . HET 0.39 rs9507413 . . . . . . . 9.157509157509158E-4 0.0020325203252032522 0.0 0.0 0.0013192612137203166 5.1084 0.002408 . V.41 3.0 . 0.390000 . . . Name\x3dnsv899941 0.005691 . 0.261 . . 3 0.0007 0.0040 0.0014 0.0005 0 0.0042 0.0068 0.0022 0.0021 0.0008 0.0049 0.0036 0 0 0.0046 0.0077 0.0092 . . 0.133 . 1.066 1.066000 . . 0.390000 . . 1.0E-255 1.000 0.715 . 0.604 0.964 . 0.421 . 0.960 1.066 0.126 0.0077 rs9507413 rs9507413 rs9507413 rs9507413 1 1538 10 1/0 0,255,255 +rs137852783 13 28494501 G A - PDX1 6107 Pancreatic and duodenal homeobox 1 NM_000209.3 1 2573 852 NP_000200.1 P52945 substitution missense exon GRCh37 28494501 28494501 Chr13(GRCh37):g.28494501G>A 226 226 NM_000209.3:c.226G>A p.Asp76Asn p.Asp76Asn 1 600733 -181 5' 94.2214 9.88355 0.994166 9.82653 94.2214 9.88355 0.994166 9.82653 0 rs137852783 yes no Frequency/1000G 2 G not_provided,likely_benign,risk_factor 0.000000 0 0.001997 0.000000 0.005100 0.000000 0.003000 0.002900 0.002751 0.001134 0.002275 0.002660 0.000000 0.001814 0.004760 0.000498 0.002575 0.004760 468 17 56 22 0 41 311 9 12 170108 14992 24610 8272 11568 22598 65330 18078 4660 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 2 0 0 0 0 0 2 0 0 464 17 56 22 0 41 307 9 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6920 3441 10361 22 1 23 0.00316912 0.000290529 0.00221495 0.00316912 0.000290529 0.00221495 3 RCV000246150.2|RCV000030077.2|RCV000445407.1|RCV000009409.3 germline|germline|germline|unknown|germline clinical testing|clinical testing|clinical testing|research|literature only Conflicting interpretations of pathogenicity|Not provided|Likely benign|Risk factor 1|0|1|0 not specified|Maturity-onset diabetes of the young, type 4|Monogenic diabetes|Diabetes mellitus type 2 CM992901 Diabetes mellitus, type 2, association with 10545530 DP transition G A G>A 1.000 3.676 D Asp GAC 0.539 N Asn AAC 0.536 76 11 10 Tetraodon 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 44.60 XI.33 Deleterious 0.02 III.78 bad 1.686E-3 0.0003603 255 PASS . . . . . . 0.002 0.0029 . 0.003 0.0051 ENSG00000139515:ENST00000381033:exon1:c.G226A:p.D76N PDX1:uc001urt.2:exon1:c.G226A:p.D76N PDX1:NM_000209:exon1:c.G226A:p.D76N . . 0.5 . . germline 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.648 . risk//\@factor//\%//\@not//\@provided//\%//\@Benign other|not_provided|Benign RCV000009409.3|RCV000030077.2|RCV000246150.1 . .|MedGen:OMIM|MedGen .|C1833382:606392|CN169374 1 0.905 . . 36.0 . . . 0.0003 0.0022 0.0032 0.0003 0.0022 0.0032 . 0.1181 0.172 0.118 c . . . . . 1.104e-03 . . . 0 0.0037 0 0 0 0.0052 0.0078 0.0033 0 0.0035 0 0 0 0.0045 0.0086 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.866 . . exonic exonic exonic . . 0.469 0.0020 . . . 0.39 0.42 182 ENSG00000139515 PDX1 PDX1 . . . 1.000 0.747 . 169 0.00260096 64976 159 0.00265062 59986 Benign . 0 . 0.407 . . . . D 0.877 0.218 . . 37 . 0.839 . . 0.815 . . . 0.474 0.453 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.399 . . 0 0 0 0 1 0 . 0.349 . . 0.313 . . . . . . 1 0.682 . . . . . 0.633 . 0.112 . HET 0.01 rs137852783 . . CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 . . . . . . 13.9232 3.53E-4 ENST00000381033 IV.96 4.IX . 0.210000 P52945 . . . 0.002215 . 0.856 . . 4.IX 0.0011 0.0028 0.0023 0.0026 0 0.0006 0.0050 0.0022 0.0018 0.0012 0.0025 0.0024 0.0033 0 0 0.0040 0.0041 . . 0.340 . 1.027 1.027000 . . 0.210000 . . 1.0E-255 1.000 0.715 . 0.371 0.438 . 0.717 . 0.594 1.027 0.917 0.0032 . . rs137852783 . 1 1538 10 1/0 0,255,255 +rs137852783 13 28494501 G A - PDX1-AS1 43698 PDX1 antisense RNA 1 NR_047484.1 -1 2002 0 substitution intron GRCh37 28494501 28494501 Chr13(GRCh37):g.28494501G>A 241+800 241+800 NR_047484.1:n.241+800C>T p.? p.? 1 1 800 5' 77.8901 8.0235 0.981335 XI.23 77.8901 8.0235 0.981335 XI.23 0 rs137852783 yes no Frequency/1000G 2 G not_provided,likely_benign,risk_factor 0.000000 0 0.001997 0.000000 0.005100 0.000000 0.003000 0.002900 0.002751 0.001134 0.002275 0.002660 0.000000 0.001814 0.004760 0.000498 0.002575 0.004760 468 17 56 22 0 41 311 9 12 170108 14992 24610 8272 11568 22598 65330 18078 4660 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 2 0 0 0 0 0 2 0 0 464 17 56 22 0 41 307 9 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6920 3441 10361 22 1 23 0.00316912 0.000290529 0.00221495 0.00316912 0.000290529 0.00221495 3 RCV000009409.3|RCV000246150.2|RCV000030077.2|RCV000445407.1 germline|germline|germline|germline|unknown literature only|clinical testing|clinical testing|clinical testing|research Risk factor|Conflicting interpretations of pathogenicity|Not provided|Likely benign 0|1|0|1 Diabetes mellitus type 2|not specified|Maturity-onset diabetes of the young, type 4|Monogenic diabetes transition C T C>T 1.000 3.676 255 PASS . . . . . . 0.002 0.0029 . 0.003 0.0051 ENSG00000139515:ENST00000381033:exon1:c.G226A:p.D76N PDX1:uc001urt.2:exon1:c.G226A:p.D76N PDX1:NM_000209:exon1:c.G226A:p.D76N . . 0.5 . . germline 18 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.648 . risk//\@factor//\%//\@not//\@provided//\%//\@Benign other|not_provided|Benign RCV000009409.3|RCV000030077.2|RCV000246150.1 . .|MedGen:OMIM|MedGen .|C1833382:606392|CN169374 1 0.905 . . 36.0 . . . 0.0003 0.0022 0.0032 0.0003 0.0022 0.0032 . 0.1181 0.172 0.118 c . . . . . 1.104e-03 . . . 0 0.0037 0 0 0 0.0052 0.0078 0.0033 0 0.0035 0 0 0 0.0045 0.0086 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.866 . . exonic exonic exonic . . 0.469 0.0020 . . . 0.39 0.42 182 ENSG00000139515 PDX1 PDX1 . . . 1.000 0.747 . 169 0.00260096 64976 159 0.00265062 59986 Benign . 0 . 0.407 . . . . D 0.877 0.218 . . 37 . 0.839 . . 0.815 . . . 0.474 0.453 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.399 . . 0 0 0 0 1 0 . 0.349 . . 0.313 . . . . . . 1 0.682 . . . . . 0.633 . 0.112 . HET 0.01 rs137852783 . . CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dsingle|single\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 CLINSIG\x3dother|probable-non-pathogenic\x3bCLNDBN\x3dDIABETES_MELLITUS\x2c_TYPE_II\x2c_SUSCEPTIBILITY_TO|Maturity-onset_diabetes_of_the_young\x2c_type_4\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|criteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000009409.1|RCV000030077.1\x3bCLNDSDB\x3d.|MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3d.|C1833382:606392:ORPHA552 . . . . . . 13.9232 3.53E-4 ENST00000381033 IV.96 4.IX . 0.210000 P52945 . . . 0.002215 . 0.856 . . 4.IX 0.0011 0.0028 0.0023 0.0026 0 0.0006 0.0050 0.0022 0.0018 0.0012 0.0025 0.0024 0.0033 0 0 0.0040 0.0041 . . 0.340 . 1.027 1.027000 . . 0.210000 . . 1.0E-255 1.000 0.715 . 0.371 0.438 . 0.717 . 0.594 1.027 0.917 0.0032 . . rs137852783 . 1 1538 10 1/0 0,255,255 +rs143491352 13 36871908 A T - CCDC169 34361 Coiled-coil domain containing 169 NM_001198908.1 -1 1021 726 NP_001185837.1 substitution 5'UTR GRCh37 36871908 36871908 Chr13(GRCh37):g.36871908A>T -52 -52 NM_001198908.1:c.-52T>A p.? p.? 1 -135 5' 80.4469 7.97184 0.984625 6.64827 80.4469 7.97184 0.984625 6.64827 0 New Acceptor Site 36871906 3.79934 0.039804 72.0603 rs143491352 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.000000 0.001000 0.000000 0.010900 0.007200 0.007204 0.002408 0.008353 0.003311 0.000000 0.000000 0.011665 0.003723 0.006122 0.011665 223 21 7 1 0 0 175 13 6 30956 8720 838 302 1622 0 15002 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 21 7 1 0 0 175 13 6 0 0 0 0 0 0 0 0 0 PASS 42 Genomes 3138 1382 4520 44 2 46 0.0138278 0.00144509 0.0100745 0.0138278 0.00144509 0.0100745 34 transversion T A T>A 0.000 -0.117 255 PASS . 0.01 0.01 . 0.01 . 0.0034 0.0072 . 0.011 0.001 . . . . . 0.54867256 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . 0.0014 0.01 0.014 0.0014 0.01 0.014 . 0.7966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.0034 . . . 0.5 0.48 182 . . . . . . . . . 723 0.0111272 64976 706 0.0117694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs143491352 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv899993 0.010074 . . . . . . . . . . . . . . 0.0024 0.0072 0.0084 0.0033 0 0.0037 0.0117 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 . . rs143491352 rs143491352 1 1538 10 1/0 0,255,255 +rs143491352 13 36871908 A T - CCDC169-SOHLH2 38866 CCDC169-SOHLH2 readthrough NM_001198910.1 -1 2650 1509 NP_001185839.1 substitution 5'UTR GRCh37 36871908 36871908 Chr13(GRCh37):g.36871908A>T -231 -231 NM_001198910.1:c.-231T>A p.? p.? 1 -135 5' 80.4469 7.97184 0.984625 6.64827 80.4469 7.97184 0.984625 6.64827 0 New Acceptor Site 36871906 3.79934 0.039804 72.0603 rs143491352 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.000000 0.001000 0.000000 0.010900 0.007200 0.007204 0.002408 0.008353 0.003311 0.000000 0.000000 0.011665 0.003723 0.006122 0.011665 223 21 7 1 0 0 175 13 6 30956 8720 838 302 1622 0 15002 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223 21 7 1 0 0 175 13 6 0 0 0 0 0 0 0 0 0 PASS 42 Genomes 3138 1382 4520 44 2 46 0.0138278 0.00144509 0.0100745 0.0138278 0.00144509 0.0100745 34 transversion T A T>A 0.000 -0.117 255 PASS . 0.01 0.01 . 0.01 . 0.0034 0.0072 . 0.011 0.001 . . . . . 0.54867256 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . 0.0014 0.01 0.014 0.0014 0.01 0.014 . 0.7966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.0034 . . . 0.5 0.48 182 . . . . . . . . . 723 0.0111272 64976 706 0.0117694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs143491352 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv899993 0.010074 . . . . . . . . . . . . . . 0.0024 0.0072 0.0084 0.0033 0 0.0037 0.0117 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.014 . . rs143491352 rs143491352 1 1538 10 1/0 0,255,255 +rs143571375 13 39433637 C T - FREM2 25396 FRAS1 related extracellular matrix protein 2 NM_207361.5 1 16163 9510 NP_997244.4 Q5SZK8 substitution missense exon GRCh37 39433637 39433637 Chr13(GRCh37):g.39433637C>T 7429 7429 NM_207361.5:c.7429C>T p.Arg2477Trp p.Arg2477Trp 14 608945 -91 5' 89.8108 8.67858 0.957362 5.69153 89.8108 8.67858 0.957362 5.69153 0 Cryptic Acceptor Weakly Activated 39433646 3.25652 0.014076 69.5873 2.37693 0.034343 72.2992 rs143571375 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000939 0.000166 0.000203 0.000296 0.000000 0.000065 0.001591 0.001008 0.002633 0.001591 260 4 7 3 0 2 201 26 17 276786 24028 34410 10138 18860 30782 126326 25786 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 260 4 7 3 0 2 201 26 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 96 transition C T C>T 0.047 0.044 R Arg CGG 0.207 W Trp TGG 1.000 2477 14 12 Tetraodon -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . ENSG00000150893:ENST00000280481:exon14:c.C7429T:p.R2477W . FREM2:NM_207361:exon14:c.C7429T:p.R2477W . . 0.4909091 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.824 . @ . . . . . 1 0.933 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R2477W|FREM2|mRNA|CODING|NM_207361|NM_207361.ex.14) . 0.0008 0.0012 . 0.0008 0.0012 . -0.0037 -0.252 -0.004 c . . . . . 8.997e-04 . . . 0.0002 0.0007 8.66e-05 0 0.0005 0.0014 0 6.062e-05 0.0002 0.0007 8.93e-05 0 0.0009 0.0012 0.0014 6.097e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.241 . . exonic exonic exonic . . 0.084 0.0004 . . . 0.28 0.29 182 ENSG00000150893 FREM2 FREM2 . . . 0.003 0.099 . 69 0.00106193 64976 67 0.00111693 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.588 0.039 . . 37 . 0.558 . . 0.718 . . . 0.794 0.424 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.883 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.721 . . . . . 1.000 . 0.929 . HET 0 rs143571375 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 21.7857 0.0 ENST00000280481 VI.16 -1.42 . 0.000000 . . . . 0.000769 . 0.198 . . . 0.0001 0.0008 0.0002 0.0003 0 0.0010 0.0014 0.0018 6.497e-05 0.0002 0.0018 0 0 0 0.0011 0.0029 0.0071 . . 0.609 . -0.165 -0.165000 . . 0.000000 . . 1.0E-255 0.105 0.227 . 0.183 0.969 . 0.253 . 0.058 -0.165 -0.444 0.0026 . . rs143571375 rs143571375 1 1538 10 1/0 0,255,255 +rs45508796 13 40230035 G A - COG6 18621 Component of oligomeric golgi complex 6 NM_020751.2 1 3609 1974 NP_065802.1 Q9Y2V7 substitution intron GRCh37 40230035 40230035 Chr13(GRCh37):g.40230035G>A 153+19 153+19 NM_020751.2:c.153+19G>A p.? p.? 1 1 606977 19 5' 81.2188 9.23916 0.937736 15.1979 81.2188 9.23916 0.937736 14.5074 0 rs45508796 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.004288 0.000871 0.005319 0.000625 0.000116 0.002527 0.006763 0.001247 0.003080 0.006763 1052 18 170 6 2 72 738 28 18 245324 20670 31962 9602 17178 28496 109122 22450 5844 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1044 18 170 6 2 72 730 28 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8457 4339 12796 61 3 64 0.00716131 0.000690926 0.00497667 0.00716131 0.000690926 0.00497667 11 RCV000443205.1 germline clinical testing Likely benign 1 not specified transition G A G>A 0.008 1.255 255 PASS . 0.0023 . . 0.01 0.0008 0.0014 0.0029 . 0.004 . . . . . . 0.5 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0007 0.005 0.0072 0.0007 0.005 0.0072 . 1.1693 . . . . . . . . 3.920e-03 . . . 0.0011 0.0057 0.0060 0 0.0013 0.0090 0.0047 0.0031 0.0011 0.0053 0.0062 0 0.0008 0.0075 0.0050 0.0032 . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.19 0.36 182 ENSG00000133103 COG6 COG6 . . . . . . 253 0.00389375 64976 247 0.00411763 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45508796 . . . . . . . . . . . . . . . . . . . . . . . 0.004977 . . . . II.85 0.0008 0.0043 0.0053 0.0006 0.0001 0.0010 0.0068 0.0029 0.0025 0.0009 0.0039 0.0060 0 0 0.0026 0.0063 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs45508796 rs45508796 rs45508796 rs45508796 1 1538 10 1/0 0,255,255 +. 13 41240129 A C - FOXO1 3819 Forkhead box O1 NM_002015.3 -1 5738 1968 NP_002006.2 Q12778 substitution missense exon GRCh37 41240129 41240129 Chr13(GRCh37):g.41240129A>C 221 221 NM_002015.3:c.221T>G p.Leu74Arg p.Leu74Arg 1 136533 -410 5' 95.331 X.37 0.990087 XII.93 95.331 X.37 0.990087 XII.93 0 transversion T G T>G 1.000 1.416 L Leu CTG 0.404 R Arg CGG 0.207 74 16 11 C. elegans -2 -2 -4 0 0.65 4.IX 10.V 111 124 102 C0 353.86 0.00 Deleterious 0.01 III.48 bad 3.228E-6 0.0003794 207 PASS . . . . . . . . . . . ENSG00000150907:ENST00000379561:exon1:c.T221G:p.L74R . FOXO1:NM_002015:exon1:c.T221G:p.L74R . . 0.18181819 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.120 . @ . . . . . 1 0.386 . . 33.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L74R|FOXO1|mRNA|CODING|NM_002015|NM_002015.ex.1) . . . . . . . -0.1683 -0.360 -0.168 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.946 . . exonic exonic exonic . . 0.191 @ . . . . . . ENSG00000150907 FOXO1 FOXO1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.013 . . . . D 0.997 0.956 . . 37 . 0.960 . . 0.851 . . . 0.263 0.358 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.715 . . 0.832 . . . . . . 0 0.316 . . . . . 0.149 . 0.451 . HET 0 . . . . . . . . . . . . . V.92 . ENST00000379561 III.64 1.IV . 0.300000 Q12778 . . . . . 0.352 . . . . . . . . . . . . . . . . . . . . . . 0.401 . 0.035 0.035000 . . 0.300000 . . 1.0E-207 1.000 0.715 . 0.888 1.000 . 0.412 . 0.564 0.035 1.039 . . . . . 1 1538 10 1.I 0,0,0 +. 13 41932578 A C - NAA16 26164 N(alpha)-acetyltransferase 16, NatA auxiliary subunit NM_024561.4 1 4347 2595 NP_078837.3 Q6N069 substitution missense exon GRCh37 41932578 41932578 Chr13(GRCh37):g.41932578A>C 1226 1226 NM_024561.4:c.1226A>C p.Glu409Ala p.Glu409Ala 11 -32 5' 82.2129 8.37568 0.678978 0 82.2129 8.37568 0.678978 0.498349 0 Alpha-acetyltransferase 15, NatA Tetratricopeptide repeat Tetratricopeptide repeat-containing transversion A C A>C 1.000 4.322 E Glu GAA 0.417 A Ala GCA 0.226 409 12 12 Baker's yeast -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C65 0.00 106.71 Deleterious 0 3.IX bad 7.242E-5 7.558E-5 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.596 . @ . . . . . 1 0.549 . . 24.0 . . . . . . . . . . 0.6902 0.561 0.690 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.571 . . exonic exonic exonic . . 0.615 @ . . . . . . ENSG00000172766 NAA16 NAA16 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.414 . . . . D 0.664 0.056 . . 37 . 0.762 . . 0.821 . . . 0.936 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.868 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.682 . . . . . 0.661 . 0.894 . HET 0 . . . . . . . . . . . . . 14.3529 . . IV.82 IV.82 . 0.020000 . . . . . . 0.848 . . IV.82 . . . . . . . . . . . . . . . . . . . 0.465 . 1.788 1.788000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.653 1.000 . 0.908 . 0.893 1.788 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs138605281 13 46726923 C T - LCP1 6528 Lymphocyte cytosolic protein 1 (L-plastin) NM_002298.4 -1 3790 1884 NP_002289.2 P13796 substitution missense exon GRCh37 46726923 46726923 Chr13(GRCh37):g.46726923C>T 731 731 NM_002298.4:c.731G>A p.Arg244Lys p.Arg244Lys 7 153430 -9 5' 94.3644 X.71 0.997353 6.00256 94.3644 X.71 0.997353 6.0553 0 Cryptic Acceptor Strongly Activated 46726925 1.25639 0.00119 64.2311 1.84334 0.001353 64.2311 rs138605281 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000723 0.000042 0.000263 0.000296 0.000000 0.000847 0.001195 0.000272 0.000466 0.001195 200 1 9 3 0 26 151 7 3 276570 24028 34276 10124 18850 30708 126392 25752 6440 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 200 1 9 3 0 26 151 7 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4406 12996 10 0 10 0.00116279 0 0.000768876 0.00116279 0 0.000768876 80 transition G A G>A 1.000 3.757 R Arg AGA 0.205 K Lys AAA 0.425 244 12 8 Frog 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 170.63 0.00 Tolerated 1 II.98 good 8.981E-1 0.4048 249 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . LCP1:NM_002298:exon7:c.G731A:p.R244K . . 0.30612245 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.356 . @ . . . . . 1 0.373 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R244K|LCP1|mRNA|CODING|NM_002298|NM_002298.ex.7) . 0.0008 0.0012 . 0.0008 0.0012 . -0.2114 0.027 -0.211 c . . . . . 7.577e-04 . . . 9.641e-05 0.0008 0.0003 0 0.0005 0.0012 0.0014 0.0007 0.0001 0.0007 0.0004 0 0.0003 0.0011 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.952 . . exonic exonic exonic . . 0.789 0.0004 . . . 0.6 0.57 182 ENSG00000136167 LCP1 LCP1 . . . 1.000 0.747 . 42 0.000646393 64976 40 0.000666822 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.718 0.073 . . 37 . 0.880 . . 0.825 . . . 0.157 0.489 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.262 . . 0 0 0 0 0 0 . 0.112 . . 0.112 . . . . . . 0 0.282 . . . . . 0.899 . 0.365 . HET 0.09 rs138605281 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 18.2454 0.0 . V.43 V.43 . 1.000000 P13796 . . . 0.000769 . 0.494 . . V.43 6.539e-05 0.0007 0.0002 0.0003 0 0.0002 0.0012 0.0004 0.0008 0 0.0008 0.0012 0 0 0.0009 0.0013 0.0010 . . 0.406 . 2.546 2.546000 . . 1.000000 . . 1.0E-249 1.000 0.715 . 0.888 1.000 . 0.687 . 0.391 2.546 0.871 0.0013 . . rs138605281 rs138605281 1 1538 10 1/0 0,255,255 +rs575943247 13 46728860 T C - LCP1 6528 Lymphocyte cytosolic protein 1 (L-plastin) NM_002298.4 -1 3790 1884 NP_002289.2 P13796 substitution intron GRCh37 46728860 46728860 Chr13(GRCh37):g.46728860T>C 573+80 573+80 NM_002298.4:c.573+80A>G p.? p.? 6 6 153430 80 5' 89.8263 9.80181 0.996909 7.63395 89.8263 9.80181 0.996909 7.43581 0 Cryptic Acceptor Strongly Activated 46728850 0.01409 3.04831 0.045727 71.2816 rs575943247 yes no Frequency/1000G 2 T 0.000599 C 3 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.002940 0.000573 0.002387 0.000000 0.000000 0.000000 0.003134 0.010029 0.002037 0.010029 91 5 2 0 0 0 47 35 2 30956 8728 838 302 1618 0 14998 3490 982 0.010989 0.000000 0.000000 0.000000 0.000000 0.000000 0.021277 0.000000 0.000000 1 0 0 0 0 0 1 0 0 89 5 2 0 0 0 45 35 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition A G A>G 0.000 0.851 255 PASS . . . . . . 0.0006 . . 0.003 . . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||LCP1|mRNA|CODING|NM_002298|) . . . . . . . 0.4727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . ENSG00000136167 LCP1 LCP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs575943247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.85 . . . . . . . . . 0.0006 0.0029 0.0024 0 0 0.0100 0.0031 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs545842697 13 46919799 G A - RUBCNL 20420 RUN and cysteine rich domain containing beclin 1 interacting protein like NM_001286761.2 -1 4218 1989 NP_001273690.1 Q9H714 substitution intron GRCh37 46919799 46919799 Chr13(GRCh37):g.46919799G>A 1632-64 1632-64 NM_001286761.2:c.1632-64C>T p.? p.? 13 12 -64 3' 83.5228 9.0392 0.740523 9.89434 83.5228 9.0392 0.740523 9.97192 0 46919796 -13.8503 rs545842697 yes no Frequency 1 G 0.000000 0 0.000291 0.000115 0.002387 0.000000 0.000000 0.000000 0.000267 0.000287 0.001022 0.002387 9 1 2 0 0 0 4 1 1 30938 8722 838 302 1620 0 14988 3490 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 2 0 0 0 4 1 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.47457626 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.2459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000241353 KIAA0226L KIAA0226L . . . . . . 84 0.00129279 64976 84 0.00140033 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs545842697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0024 0 0 0.0003 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs138866196 13 49761277 C A - FNDC3A 20296 Fibronectin type III domain containing 3A NM_001079673.1 1 6286 3597 NP_001073141.1 Q9Y2H6 substitution synonymous exon GRCh37 49761277 49761277 Chr13(GRCh37):g.49761277C>A 1776 1776 NM_001079673.1:c.1776C>A p.Gly592= p.Gly592Gly 16 615794 20 3' 76.3139 6.94778 0.964279 7.66572 76.3139 6.94778 0.952806 7.43682 -0.003966 Fibronectin, type III transversion C A C>A 1.000 1.093 G Gly GGC 0.342 G Gly GGA 0.246 592 255 PASS . . . . . . . . . . . . . . . . 0.6486486 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . I.63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.51 0.24 182 ENSG00000102531 FNDC3A FNDC3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs202101950 13 49794777 C T - MLNR 4495 Motilin receptor NM_001507.1 1 1239 1239 NP_001498.1 O43193 substitution missense exon GRCh37 49794777 49794777 Chr13(GRCh37):g.49794777C>T 304 304 NM_001507.1:c.304C>T p.Arg102Trp p.Arg102Trp 1 602885 -598 5' 73.6002 9.73316 0.978306 11.465 73.6002 9.73316 0.978306 11.465 0 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs202101950 yes no Frequency 1 C 0.000000 0 0.000260 0.000000 0.000000 0.000407 0.000000 0.000000 0.000413 0.000533 0.000490 0.000533 68 0 0 4 0 0 48 13 3 261930 22670 33846 9832 18522 30242 116324 24376 6118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 0 0 4 0 0 48 13 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8569 4400 12969 3 0 3 0.000349977 0 0.000231267 0.000349977 0 0.000231267 23 COSM6230053 Large intestine 0.000896 2231 transition C T C>T 1.000 0.770 R Arg CGG 0.207 W Trp TGG 1.000 102 11 8 Zebrafish -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 271.19 36.80 Tolerated 0.09 3.I good 3.807E-1 0.3082 255 PASS . . . . . . . . . . . . MLNR:uc010tgj.2:exon1:c.C304T:p.R102W MLNR:NM_001507:exon1:c.C304T:p.R102W . . 0.4318182 . . @ 76 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.892 . @ . . . . . 1 0.963 . . 176.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R102W|MLNR|mRNA|CODING|NM_001507|NM_001507.ex.1) . 0.0002 0.0003 . 0.0002 0.0003 . 0.3335 0.220 0.333 c . . . . . 2.375e-04 . . . 0 0.0003 0 0 0 0.0006 0 0 0 0.0002 0 0 0.0002 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.726 . . exonic exonic exonic . . 0.271 @ . . . 0.34 0.37 182 ENSG00000102539 MLNR MLNR . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.379 . . . . D 0.932 0.391 . . 37 . 0.791 . . 0.677 . . . 0.663 0.247 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.769 . . 0 0 0 0 0 0 . 0.899 . . 0.736 . . . . . . 0 0.400 . . . . . 0.246 . 0.714 . HET 0.09 rs202101950 . . . . . . . . . . . . 7.137 0.0 . 4.XII II.23 . 0.170000 O43193 . . Name\x3dnsv832607 0.000231 . 0.341 . . II.23 0 0.0003 0 0.0004 0 0.0006 0.0004 0.0004 0 0 0.0002 0 0 0 0.0003 0.0003 0.0010 . . 0.340 . 0.151 0.151000 . . 0.170000 . . 1.0E-255 0.930 0.320 . 0.625 0.996 . 0.261 . 0.125 0.151 -0.123 0.0003 . . rs202101950 rs202101950 1 1538 10 1/0 0,232,255 +rs192170277 13 50020546 C T - SETDB2 20263 SET domain bifurcated 2 NM_031915.2 1 6220 2160 NP_114121.2 Q96T68 substitution intron GRCh37 50020546 50020546 Chr13(GRCh37):g.50020546C>T 1211 1211 NM_031915.2:c.-342+1553C>T p.? p.? 1 1 607865 1553 5' 94.6711 X.63 0.980587 1.75928 94.6711 X.63 0.980587 1.75928 0 rs192170277 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.002000 0.002900 0.001598 0.000534 0.001060 0.002033 0.000000 0.000089 0.002843 0.000671 0.002580 0.002843 261 8 26 17 0 2 189 7 12 163358 14986 24520 8362 11508 22410 66486 10434 4652 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 261 8 26 17 0 2 189 7 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.037 255 PASS 0.002 0.0009 0.0028 . . . 0.0008 0.0029 . 0.002 . . . . . . 0.4047619 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.2687 . . . . . . . . 9.372e-04 . . . 0 0.0008 0.0053 0 0 0.0024 0 0 0 0.0005 0.0069 0 0.0012 0.0010 0 0 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.35 0.25 182 . SETDB2 SETDB2 . . . . . . 148 0.00227776 64976 145 0.00241723 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192170277 . . . . . . . . . . . . . . . . . . . . 0 0.034 . . . . . . . 0.0005 0.0015 0.0010 0.0021 0 0.0007 0.0028 0.0025 8.925e-05 0.0006 0.0018 0.0024 0 0 0.0006 0.0029 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs192170277 rs192170277 1 1538 10 1/0 0,255,255 +rs773256911 13 50306827 A G - KPNA3 6396 Karyopherin alpha 3 (importin alpha 4) NM_002267.3 -1 4474 1566 NP_002258.2 O00505 substitution intron GRCh37 50306827 50306827 Chr13(GRCh37):g.50306827A>G 235-34 235-34 NM_002267.3:c.235-34T>C p.? p.? 5 4 601892 -34 3' 84.4022 6.87796 0.716684 4.99015 84.4022 6.87796 0.716684 5.09032 0 rs773256911 yes no Frequency 1 A 0.000000 0 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000187 0.000027 4 0 0 0 0 0 3 0 1 239718 15190 32464 9600 16836 28354 109706 22222 5346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 PASS 66 Exomes transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.7222222 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . INTRON(MODIFIER||||KPNA3|mRNA|CODING|NM_002267|) . . . . . . . 0.2418 . . . . . . . . 7.896e-06 . . . 0 1.113e-05 0 0 0 2.39e-05 0 0 0 9.491e-06 0 0 0 1.848e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000102753 KPNA3 KPNA3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773256911 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv1586n71 . . . . . . 0 1.669e-05 0 0 0 0 2.735e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199830506 13 52952690 C T - THSD1 17754 Thrombospondin, type I, domain containing 1 NM_018676.3 -1 3348 2559 NP_061146.1 Q9NS62 substitution missense exon GRCh37 52952690 52952690 Chr13(GRCh37):g.52952690C>T 1415 1415 NM_018676.3:c.1415G>A p.Ser472Asn p.Ser472Asn 5 616821 235 3' 93.9409 11.111 0.995424 11.0606 93.9409 11.111 0.995424 11.0606 0 rs199830506 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.005000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000000 0.000406 0.000000 0.000000 0.000000 0.000000 0.000406 7 0 0 0 7 0 0 0 0 246132 15296 33580 9846 17248 30778 111602 22298 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transition G A G>A 0.906 2.869 S Ser AGC 0.243 N Asn AAC 0.536 472 12 8 Tetraodon 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 220.50 0.00 Tolerated 0.41 II.88 good 6,00E-01 0.02371 255 PASS . 0.0014 . 0.01 . . 0.001 . 0.005 . . . . . . . 0.4074074 . . @ 66 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.150 . @ . . . . . 1 0.480 . . 162.0 . . . . . . . . . . -0.2713 -0.173 -0.271 c . . . . . 6.314e-05 . . . 0 5.517e-05 0 0.0009 0 0 0 0 0 3.77e-05 0 0.0005 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.207 . . exonic exonic exonic . . 0.719 0.0010 . . . 0.57 0.46 182 ENSG00000136114 THSD1 THSD1 . . . 1.000 0.436 . 5 7.69515e-05 64976 0 0 59986 Uncertain_significance . 0 . 0.426 . . . . T 0.286 0.011 . . 37 . 0.247 . . 0.223 . . . 0.326 0.371 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.189 . . 0 0 0 0 0 0 . 0.217 . . 0.218 . . . . . . 0 0.177 . . . . . 0.410 . 0.243 . HET 0.25 rs199830506 . . . . . . . 0.0013736263736263737 0.0 0.0 0.005244755244755245 0.0 10.0215 . . 6.VI V.21 . 0.260000 . . . . . . 0.519 . . V.21 0 2.844e-05 0 0 0.0004 0 0 0 0 . . . . . . . . . . 0.310 . 1.566 1.566000 . . 0.260000 . . 1.0E-255 1.000 0.715 . 0.345 0.936 . 0.485 . 0.441 1.566 0.871 0.01 . . rs199830506 rs199830506 1 1538 10 1/0 0,235,255 +rs775151037 13 60548575 T C - DIAPH3 15480 Diaphanous-related formin 3 NM_001042517.1 -1 4802 3582 NP_001035982.1 Q9NSV4 substitution missense exon GRCh37 60548575 60548575 Chr13(GRCh37):g.60548575T>C 1561 1561 NM_001042517.1:c.1561A>G p.Thr521Ala p.Thr521Ala 15 614567 16 3' 86.2709 9.44792 0.963548 6.34292 86.2709 9.44792 0.966776 6.55316 0.00111671 rs775151037 yes no Frequency 1 T 0.000000 0 0.000058 0.000000 0.000466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000466 16 0 16 0 0 0 0 0 0 275018 23930 34358 10124 18790 30760 125610 25016 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 16 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.047 -0.440 T Thr ACC 0.361 A Ala GCC 0.403 521 12 3 Opossum 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.7 III.47 good 4.431E-1 0.2598 255 PASS . . . . . . . . . . . . . . . . 0.75 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.172 . @ . . . . . 1 0.157 . . 32.0 . . . . . . . . . . -0.4355 -0.396 -0.435 c . . . . . 3.996e-05 . . . 0 5.602e-05 0.0004 0 0 0 0 0 0 4.767e-05 0.0005 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.809 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000139734 DIAPH3 DIAPH3 . . . 0.990 0.320 . . . . . . . Uncertain_significance . 0 . 0.283 . . . . D 0.553 0.034 . . 37 . 0.739 . . 0.653 . . . 0.685 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.612 . . 0 0 0 0 0 0 . 0.520 . . 0.496 . . . . . . 0 0.240 . . . . . 0.106 . 0.026 . HOM 0.03 rs775151037 . . . . . . . . . . . . IV.93 . . 6.III -2.22 . 0.310000 . . . Name\x3dnsv900237 . . 0.299 . . . 0 6.143e-05 0.0004 0 0 0 0 0 0 0 3.244e-05 0.0012 0 0 0 0 0 . . 0.413 . -0.325 -0.325000 . . 0.310000 . . 1.0E-255 1.000 0.715 . 0.574 0.997 . 0.372 . 0.211 -0.325 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs41287036 13 77575072 C T - CLN5 2076 Ceroid-lipofuscinosis, neuronal 5 NM_006493.2 1 2800 1224 NP_006484.1 substitution missense exon GRCh37 77575072 77575072 Chr13(GRCh37):g.77575072C>T 1192 1192 NM_006493.2:c.1192C>T p.Pro398Ser p.Pro398Ser 4 608102 480 3' 86.8047 8.59701 0.715323 7.53747 86.8047 8.59701 0.715323 7.53747 0 rs41287036 yes no Frequency/1000G 2 C uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000097 0.000174 0.000000 0.000000 0.000000 0.000000 0.000180 0.000000 0.000000 0.000180 26 4 0 0 0 0 22 0 0 267926 22942 33736 9922 18576 29442 122212 24792 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 4 0 0 0 0 22 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7939 4182 12121 1 0 1 0.000125945 0 8.24946e-05 0.000125945 0 8.24946e-05 26 RCV000116753.2|RCV000319549.1 germline|germline|germline clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|VUS 1|1 not provided|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive transition C T C>T 1.000 5.774 P Pro CCT 0.283 S Ser TCT 0.185 398 12 11 Zebrafish -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 208.63 19.42 Deleterious 0 III.89 good 2.399E-1 0.002908 255 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000102805:ENST00000377453:exon4:c.C1192T:p.P398S CLN5:uc001vkc.3:exon4:c.C1192T:p.P398S CLN5:NM_006493:exon4:c.C1192T:p.P398S . . 0.4318182 . . germline 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.850 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Uncertain//\@significance other|Uncertain_significance RCV000116753.2|RCV000319549.1 . MedGen|MedGen CN221809|CN239251 1 0.969 . . 44.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.8424 0.808 0.842 c . . . . . 7.242e-05 . . . 0 8.361e-05 0 0 0 0.0002 0 0 0 4.941e-05 0 0 0 9.662e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.914 . . exonic exonic exonic . . 0.868 0.0002 . . . 0.36 0.34 182 ENSG00000102805 CLN5 CLN5 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.793 0.114 . . 37 . 0.952 . . 0.951 . . . 0.681 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.915 . . 0 0 0 0 1 0 . 0.899 . . 0.971 . . . . . . 1 0.912 . . . . . 0.962 . 0.896 . HET 0 rs41287036 . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000116753.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000116753.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dunknown\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000116753.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . 19.7422 0.0 . V.65 V.65 . 0.010000 O75503 . . . 0.000082 . 0.862 . . V.65 7.038e-05 8.863e-05 0 0 0 0 0.0002 0 0 0.0003 0.0002 0 0 0 0 0.0001 0 . . 0.924 . 2.666 2.666000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.423 0.924 . 0.817 . 0.362 2.666 0.824 0.0001 rs41287036 rs41287036 rs41287036 rs41287036 1 1538 10 1/0 0,255,255 +rs145663548 13 78192153 A G - SCEL 10573 Sciellin NM_144777.2 1 3226 2067 NP_659001.2 O95171 substitution missense exon GRCh37 78192153 78192153 Chr13(GRCh37):g.78192153A>G 1586 1586 NM_144777.2:c.1586A>G p.Asn529Ser p.Asn529Ser 27 604112 15 3' 85.0064 9.33329 0.134108 3.87935 85.0064 9.33329 0.179839 4.08307 0.113667 rs145663548 yes no Frequency/1000G 2 A 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.005000 0.001400 0.004383 0.001166 0.002501 0.001480 0.000053 0.003282 0.006268 0.006206 0.004655 0.006268 1213 28 86 15 1 101 792 160 30 276744 24006 34386 10138 18860 30776 126352 25782 6444 0.000058 0.000000 0.000000 0.000000 0.000000 0.000065 0.000095 0.000078 0.000000 8 0 0 0 0 1 6 1 0 1197 28 86 15 1 99 780 158 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4400 12965 35 6 41 0.00406977 0.00136178 0.00315239 0.00406977 0.00136178 0.00315239 116 transition A G A>G 0.142 0.205 N Asn AAT 0.464 S Ser AGT 0.149 529 12 7 Dog 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.64 3.VII good 6.838E-1 0.4822 255 PASS . 0.0018 0.0028 . 0.004 . 0.0014 0.0014 . 0.005 0.001 . . . . . 0.5505618 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.144 . @ . . . . . 1 0.208 . . 89.0 . . . 0.0014 0.0032 0.0041 0.0014 0.0032 0.0041 . -0.4963 -0.536 -0.496 c . . . . . 4.530e-03 . . . 0.0009 0.0036 0.0010 0 0.0061 0.0052 0.0070 0.0035 0.0009 0.0043 0.0009 0 0.0065 0.0062 0.0043 0.0035 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.322 . . exonic exonic exonic . . 0.222 0.0014 . . . 0.25 0.27 182 ENSG00000136155 SCEL SCEL . . . 0.934 0.271 . 251 0.00386296 64976 244 0.00406762 59986 Likely_benign . 0 . 0.140 . . . . T 0.105 0.004 . . 37 . 0.234 . . 0.163 . . . 0.691 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.342 . . 0 0 0 0 0 0 . 0.367 . . 0.332 . . . . . . 0 0.574 . . . . . 0.263 . 0.013 . HET 0.05 rs145663548 . . . . . . . 0.0018315018315018315 0.0 0.0027624309392265192 0.0 0.00395778364116095 VII.31 0.001338 . V.35 I.54 . 0.630000 . . . . 0.003152 . 0.096 . . . 0.0010 0.0044 0.0025 0.0015 5.798e-05 0.0061 0.0063 0.0037 0.0033 0.0015 0.0045 0.0012 0 0 0.0072 0.0060 0.0102 . . 0.133 . 0.424 0.424000 . . 0.630000 . . 1.0E-255 0.037 0.206 . 0.625 0.876 . 0.308 . 0.960 0.424 0.126 0.0041 . . rs145663548 rs145663548 1 1538 10 1/0 0,255,255 +rs143392665 13 113516788 G A - ATP11A 13552 ATPase, class VI, type 11A NM_032189.3 1 8768 3576 NP_115565.3 substitution missense exon GRCh37 113516788 113516788 Chr13(GRCh37):g.113516788G>A 2890 2890 NM_032189.3:c.2890G>A p.Val964Met p.Val964Met 25 605868 35 3' 90.6792 9.28031 0.949841 13.2129 90.6792 9.28031 0.949841 13.0757 0 ATPase, P-type, phospholipid-translocating, flippase rs143392665 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.003800 0.001000 0.000000 0.000000 0.000000 0.000838 0.006081 0.000087 0.000000 0.000000 0.002470 0.000047 0.000000 0.000155 0.006081 232 146 3 0 0 76 6 0 1 276958 24008 34396 10142 18870 30764 126532 25782 6464 0.000014 0.000083 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 228 144 3 0 0 74 6 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4375 12974 1 31 32 0.000116279 0.00703586 0.0024604 0.000116279 0.00703586 0.0024604 138 transition G A G>A 0.386 0.851 V Val GTG 0.468 M Met ATG 1.000 964 14 8 Tetraodon 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 119.12 0.00 Tolerated 0.1 III.58 good 1.675E-1 0.2959 255 PASS 0.002 0.0005 . . . 0.0038 0.0012 . . . 0.001 . . . . . 0.6282051 . . @ 49 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.246 . @ . . . . . 1 0.353 . . 78.0 . . . 0.007 0.0025 0.0001 0.007 0.0025 0.0001 . -0.2389 -0.207 -0.239 c . . . . . 8.445e-04 . . . 0.0061 0.0012 0 0 0 4.777e-05 0 0.0025 0.0059 0.0009 0 0 0 5.544e-05 0 0.0025 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.705 . . exonic exonic exonic . . 0.372 0.0012 . . . 0.4 0.14 182 ENSG00000068650 ATP11A ATP11A . . . 0.904 0.261 . 8 0.000123122 64976 2 3.33411e-05 59986 Uncertain_significance . 0 . 0.112 . . . . D 0.630 0.047 . . 37 . 0.487 . . 0.485 . . . 0.392 0.207 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.065 . . 0 0 0 0 0 0 . 0.354 . . 0.288 . . . . . . 0 0.306 . . . . . 0.134 . 0.341 . HET 0.09 rs143392665 0.011 0.007 . . . . . 4.578754578754579E-4 0.0020325203252032522 0.0 0.0 0.0 IV.67 0.006688 . V.21 III.34 . 0.100000 . . . . 0.002460 . 0.337 . . III.34 0.0067 0.0008 8.94e-05 0 0 0 4.483e-05 0.0002 0.0025 0.0050 0.0015 0 0 0 0 6.67e-05 0 . . 0.730 . 1.156 1.156000 . . 0.100000 . . 1.0E-255 0.978 0.348 . 0.213 0.932 . 0.395 . 0.713 1.156 -0.020 0.011 . . rs143392665 rs143392665 1 1538 10 1/0 0,255,255 +rs527880901 13 113748666 G A - MCF2L 14576 MCF.2 cell line derived transforming sequence like NM_001320815.1 1 6524 3447 NP_001307744.1 substitution intron GRCh37 113748666 113748666 Chr13(GRCh37):g.113748666G>A 3023-162 3023-162 NM_001320815.1:c.3023-162G>A p.? p.? 28 27 609499 -162 3' 84.0798 X.08 0.983751 6.87386 84.0798 X.08 0.983751 6.87386 0 rs527880901 yes no Frequency/1000G 2 G 0.000000 0 0.005192 0.000000 0.023500 0.000000 0.002000 0.001400 0.003714 0.001603 0.001193 0.026490 0.000000 0.000000 0.005268 0.002290 0.005092 0.026490 115 14 1 8 0 0 79 8 5 30966 8732 838 302 1622 0 14996 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 14 1 8 0 0 79 8 5 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.000 0.286 255 PASS . . . . . . 0.0052 0.0014 . 0.002 0.024 . . . . . 0.42857143 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . 0.3639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0052 . . . . . . ENSG00000126217 MCF2L MCF2L . . . . . . 315 0.00484794 64976 289 0.00481779 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs527880901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0037 0.0012 0.0265 0 0.0023 0.0053 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 13 114453604 C T - LINC00552 43692 Long intergenic non-protein coding RNA 552 NR_028064.1 -1 2579 0 substitution exon GRCh37 114453604 114453604 Chr13(GRCh37):g.114453604C>T 459 459 NR_028064.1:n.459G>A 1 rs899837305 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 90810 3172 17578 6370 5948 17486 32986 4662 2608 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 179 Exomes transition G A G>A 0.071 0.125 252 PASS . . . . . . . . . . . . LINC00552:uc010tkg.1:exon1:c.G416A:p.G139D . . . 0.2037037 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R153|LINC00552|Non-coding_transcript|NON_CODING|NR_028064|NR_028064.ex.1) . . . . . . . -0.3482 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_splicing exonic ncRNA_exonic . . . @ . . . . . . ENSG00000227208 LINC00552 LINC00552 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs60844968 13 114507742 G C - TMEM255B 28297 Transmembrane protein 255B NM_182614.3 1 1348 981 NP_872420.1 Q8WV15 substitution intron GRCh37 114507742 114507742 Chr13(GRCh37):g.114507742G>C 670-116 670-116 NM_182614.3:c.670-116G>C p.? p.? 8 7 -116 3' 84.1763 10.459 0.950016 8.70964 84.1763 10.459 0.950016 8.70964 0 rs60844968 yes no Frequency/1000G 2 G 0.000000 0 0.076078 0.087000 0.030700 0.001000 0.163000 0.102300 0.000283 0.000613 0.000000 0.000000 0.000000 0.000000 0.000151 0.000000 0.001111 0.000613 8 5 0 0 0 0 2 0 1 28288 8158 788 248 1620 0 13268 3306 900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 5 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 46 Genomes transversion G C G>C 0.063 1.416 255 PASS 0.09 0.09 0.1 0.0017 0.15 0.087 0.076 0.1 0.001 0.16 0.031 . . . . . 0.4827586 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||TMEM255B|mRNA|CODING|NM_182614|) . . . . . . . 0.2741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0761 . . . 0.08 0.19 182 ENSG00000184497 TMEM255B TMEM255B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs60844968 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0003 0 0 0 0 0.0002 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 . rs60844968 rs60844968 rs60844968 1 1538 10 1/0 0,255,255 +rs12856045 13 114507748 T C - TMEM255B 28297 Transmembrane protein 255B NM_182614.3 1 1348 981 NP_872420.1 Q8WV15 substitution intron GRCh37 114507748 114507748 Chr13(GRCh37):g.114507748T>C 670-110 670-110 NM_182614.3:c.670-110T>C p.? p.? 8 7 -110 3' 84.1763 10.459 0.950016 8.70964 84.1763 10.459 0.950016 8.70964 0 rs12856045 yes no Frequency/1000G 2 T 0.000000 0 0.079473 0.087000 0.040900 0.001000 0.168000 0.105200 0.000693 0.001004 0.000000 0.000000 0.000000 0.000000 0.000699 0.000633 0.000000 0.001004 19 8 0 0 0 0 9 2 0 27418 7972 766 246 1540 0 12878 3160 856 0.052632 0.000000 0.000000 0.000000 0.000000 0.000000 0.111111 0.000000 0.000000 1 0 0 0 0 0 1 0 0 17 8 0 0 0 0 7 2 0 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition T C T>C 0.008 -2.539 255 PASS 0.09 0.09 0.1 0.0017 0.16 0.087 0.08 0.11 0.001 0.17 0.041 . . . . . 0.5483871 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||TMEM255B|mRNA|CODING|NM_182614|) . . . . . . . -0.4034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0795 . . . 0.07 0.12 182 ENSG00000184497 TMEM255B TMEM255B . . . . . . 9303 0.143176 64976 8905 0.148451 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12856045 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0007 0 0 0 0.0006 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . rs12856045 rs12856045 rs12856045 1 1538 10 1/0 0,255,255 +rs141152619 14 19377795 T C - OR11H12 30738 Olfactory receptor, family 11, subfamily H, member 12 NM_001013354.1 1 981 981 NP_001013372.1 B2RN74 substitution missense exon GRCh37 19377795 19377795 Chr14(GRCh37):g.19377795T>C 202 202 NM_001013354.1:c.202T>C p.Trp68Arg p.Trp68Arg 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs141152619 yes no Frequency/1000G 2 C 0.000000 0 0.010383 0.019700 0.004100 0.007900 0.012900 0.001400 0.001200 0.003638 0.001154 0.000336 0.002122 0.000142 0.000755 0.002428 0.001435 0.003638 291 65 34 3 35 4 85 57 8 242506 17868 29454 8930 16492 28144 112570 23474 5574 0.000297 0.001231 0.000340 0.000000 0.001091 0.000071 0.000107 0.000170 0.000718 36 11 5 0 9 1 6 2 2 190 42 10 2 15 1 63 53 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.117 W Trp TGG 1.000 R Arg CGG 0.207 68 10 2 Orangutan -2 -3 -5 0.13 0.65 5.IV 10.V 170 124 101 C0 195.36 0.00 Tolerated 0.87 IV.32 good 6.29E-1 0.2676 211 PASS . . . . . 0.02 0.01 0.0014 0.0079 0.013 0.0041 ENSG00000257115:ENST00000550708:exon1:c.T202C:p.W68R OR11H12:uc010tkp.2:exon1:c.T202C:p.W68R OR11H12:NM_001013354:exon1:c.T202C:p.W68R . . 0.18987341 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.011 . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W68R|OR11H12|mRNA|CODING|NM_001013354|NM_001013354.ex.1) . . . . . . . -1.6833 -1.718 -1.683 c . . . . . 7.401e-05 . . . 0 1.227e-05 0 0 0 2.622e-05 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.091 0.0240 . . . 0.37 0.29 182 ENSG00000257115 OR11H12 OR11H12 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.031 . . . . . . . . . 37 . 0.005 . . 0.448 . . . 0.001 . . . . . 1 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.083 . . . . . 0.090 . 0.199 . HET 0.49 rs141152619 . . . . . . . . . . . . 4.0057 . ENST00000550708 0.585 -1.17 . 0.610000 B2RN74 . . . . . 0.004 . . . 0.0020 0.0005 0.0007 0.0002 0.0014 0.0002 0.0003 0.0010 0.0001 0.0075 0.0081 0.0211 0.0040 0.0114 0.0203 0.0048 0.0040 . . 0.133 . -0.321 -0.321000 . . 0.610000 . . 1.0E-211 0.000 0.063 . 0.137 0.022 . 0.011 . 0.005 -0.321 -1.861 . rs10222214 rs10222214 rs10222214 rs10222214 1 1538 10 1/0 0,244,255 +rs202226673 14 19378135 T A - OR11H12 30738 Olfactory receptor, family 11, subfamily H, member 12 NM_001013354.1 1 981 981 NP_001013372.1 B2RN74 substitution missense exon GRCh37 19378135 19378135 Chr14(GRCh37):g.19378135T>A 542 542 NM_001013354.1:c.542T>A p.Met181Lys p.Met181Lys 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs202226673 yes no Frequency 1 T 0.000000 0 0.001380 0.001222 0.000413 0.000000 0.000624 0.000000 0.000224 0.006844 0.005166 0.006844 146 18 5 0 6 0 10 93 14 105798 14726 12110 1938 9608 6560 44558 13588 2710 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146 18 5 0 6 0 10 93 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6019292 Skin 0.000812 1232 transversion T A T>A 0.142 1.013 M Met ATG 1.000 K Lys AAG 0.575 181 10 8 Cape rock hyrax -1 -1 -3 0 0.33 5.VII 11.III 105 119 95 C55 14.30 93.77 Deleterious 0 IV.32 bad 1.154E-5 0.0001649 174 PASS . . . . . . . . . . . ENSG00000257115:ENST00000550708:exon1:c.T542A:p.M181K OR11H12:uc010tkp.2:exon1:c.T542A:p.M181K OR11H12:NM_001013354:exon1:c.T542A:p.M181K . . 0.10144927 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.463 . @ . . . . . 1 0.153 . . 414.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aAg|M181K|OR11H12|mRNA|CODING|NM_001013354|NM_001013354.ex.1) . . . . . . . -0.4253 -0.589 -0.425 c . . . . . 1.104e-04 . . . 0 0.0008 0 0.0063 0 0.0005 0 0 0 0.0024 0 0.0153 0 0.0023 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.001 . . exonic exonic exonic . . 0.165 @ . . . 0.34 0.28 182 ENSG00000257115 OR11H12 OR11H12 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.244 . . . . T 0.079 0.003 . . 37 . 0.002 . . 0.362 . . . 0.346 . . . . . 1 0 0 0 0 0 0 0 0 0 0 0.761 . . 0 0 0 0 0 0 . 0.401 . . 0.415 . . . . . . 0 0.614 . . . . . 0.162 . 0.470 . LowAF 0.01 rs202226673 . . . . . . . . . . . . V.03 . ENST00000550708 0.585 0.585 . 0.010000 B2RN74 . . . . . 0.166 . . . 0 0.0001 0 0 0.0007 0 6.44e-05 0 0 0.0021 0.0049 0.0066 0 0 0.0343 0.0006 0.0168 . . 0.133 . 0.518 0.518000 . . 0.010000 . . 1.0E-174 0.015 0.189 . 0.311 0.920 . 0.410 . 0.255 0.518 0.615 . rs3000029 rs3000029 rs3000029 rs202226673 1 1538 10 1/0 0,165,255 +. (chr14:19412842 T/A) 14 19412842 T A Not on a known gene +. (chr14:19485946 C/G) 14 19485946 C G No Alamut gene - other known genes: NF1P4 NF1P4 +rs200084495 14 19553612 C T - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution missense exon GRCh37 19553612 19553612 Chr14(GRCh37):g.19553612C>T 196 196 NM_001005356.2:c.196C>T p.Arg66Cys p.Arg66Cys 1 608916 -326 5' 78.4708 8.54931 0.957079 8.73066 78.4708 8.54931 0.957079 8.73066 0 rs200084495 no no 0 C 0.000000 0 0.000055 0.000273 0.000029 0.000000 0.000054 0.000000 0.000024 0.000118 0.000159 0.000273 15 6 1 0 1 0 3 3 1 270780 21964 34144 10046 18624 30694 123670 25358 6280 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 6 1 0 1 0 3 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM2027900 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.024 -1.247 R Arg CGC 0.190 C Cys TGC 0.552 66 12 2 Orangutan -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0.02 IV.32 unknown 0.0 0.0 214 PASS . . . . . . . . . . . . POTEG:uc001vuz.1:exon1:c.C196T:p.R66C POTEG:NM_001005356:exon1:c.C196T:p.R66C . . 0.19642857 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.193 . @ . . . . . 1 0.028 . . 168.0 . . . . . . . . . . -1.7995 -1.859 -1.800 c . . . . . . . . . 0 2.281e-05 0 0 0.0003 2.479e-05 0 0 0 1.938e-05 0 0 0.0002 1.9e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.273 . . exonic exonic exonic . . . @ . . . 0.39 0.27 182 ENSG00000222036 POTEG POTEG . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.017 0.001 . . 37 . 0.090 . . 0.202 . . . 0.112 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.234 . . . . . . . 0.236 . HET 0.1 rs200084495 . . . . . . . . . . . . . . ENST00000409832 . . . 0.070000 Q6S5H5 . . . . . 0.003 . . . 0 1.642e-05 0 0 0 0.0001 9.071e-06 0 0 0.0008 0.0004 0.0013 0 0.0007 0 0.0001 0.0012 . . 0.246 . -1.281 -1.281000 . . 0.070000 . . 1.0E-214 0.000 0.063 . 0.016 0.029 . 0.002 . 0.000 -1.281 -1.380 . rs28431315 rs28431315 rs28431315 rs200084495 1 1538 10 1/0 0,213,255 +rs201360940 14 19553653 C T - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution synonymous exon GRCh37 19553653 19553653 Chr14(GRCh37):g.19553653C>T 237 237 NM_001005356.2:c.237C>T p.Asn79= p.Asn79Asn 1 608916 -285 5' 78.4708 8.54931 0.957079 8.73066 78.4708 8.54931 0.957079 8.73066 0 rs201360940 yes no Frequency 1 C 0.000000 0 0.000253 0.000529 0.000097 0.000351 0.000058 0.000295 0.000223 0.000515 0.000000 0.000529 59 10 3 3 1 7 24 11 0 233656 18920 30774 8552 17362 23718 107426 21342 5562 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000074 0.000000 0.000000 4 0 0 0 0 0 4 0 0 51 10 3 3 1 7 16 11 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.682 N Asn AAC 0.536 N Asn AAT 0.464 79 194 PASS . . . . . . . . . . . . POTEG:uc001vuz.1:exon1:c.C237T:p.N79N POTEG:NM_001005356:exon1:c.C237T:p.N79N . . 0.14393939 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 132.0 . . . . . . . . . . -0.5590 . . . . . . . . 1.197e-04 . . . 0 0.0002 0.0001 0.0004 0.0003 0.0002 0 8.306e-05 0 0.0001 0.0001 0.0003 0.0002 0.0001 0 8.356e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.29 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201360940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 9.982e-05 0.0004 6.257e-05 0.0005 0.0002 0 0.0003 0.0015 0.0008 0 0 0 0.0007 0.0006 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs201360940 rs201360940 1 1538 10 1/0 0,218,255 +rs760320985 14 19558709 C T - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558709 19558709 Chr14(GRCh37):g.19558709C>T 522-8 522-8 NM_001005356.2:c.522-8C>T p.? p.? 2 1 608916 -8 3' 78.903 7.63058 0.895947 6.63934 80.7129 7.94346 0.883919 7.05348 0.0168387 rs760320985 yes no Frequency 1 C 0.000000 0 0.000065 0.000000 0.000161 0.000000 0.000124 0.000078 0.000064 0.000000 0.000000 0.000161 10 0 3 0 1 1 5 0 0 154780 9812 18642 6036 8080 12790 77702 18140 3578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 3 0 1 1 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.125 205 PASS . . . . . . . . . . . . . . . . 0.175 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.4070 . . . . . . . . 3.543e-05 . . . 0 6.203e-05 0.0003 0 0 0 0 0.0001 0 6.821e-05 0.0003 0 0 3.043e-05 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.12 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs760320985 . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . 0 6.207e-05 0.0002 0 0.0001 0 5.484e-05 0 7.819e-05 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . rs4440050 rs4440050 rs4440050 rs4440050 1 1538 10 1/0 0,255,255 +. 14 19558796 A G - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution missense exon GRCh37 19558796 19558796 Chr14(GRCh37):g.19558796A>G 601 601 NM_001005356.2:c.601A>G p.Ile201Val p.Ile201Val 2 608916 -36 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 3.04537 0 Ankyrin repeat Ankyrin repeat-containing domain 0.000555 0.001800 0.001453 0.000000 0.000480 0.002475 0.000071 0.000000 0.001222 0.002475 17 6 4 0 1 4 1 0 1 30618 3334 2752 1012 2082 1616 14116 4888 818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 6 4 0 1 4 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427818 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.016 -0.037 I Ile ATC 0.481 V Val GTC 0.240 201 12 1 3 3 4 0 0 5.II 5.IX 111 84 29 C0 258.55 0.00 Tolerated 1 II.96 good 8.733E-1 0.455 255 PASS . . . . . . . . . . . . POTEG:uc001vuz.1:exon2:c.A601G:p.I201V POTEG:NM_001005356:exon2:c.A601G:p.I201V . . 0.3846154 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.030 . . 91.0 . . . . . . . . . . -1.8437 -1.898 -1.844 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.639 . . exonic exonic exonic . . 0.041 @ . . . 0.2 0.31 182 ENSG00000222036 POTEG POTEG . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.008 . . . . T 0.091 0.004 . . 37 . 0.340 . . 0.419 . . . 0.039 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.048 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 2 0.010 . . . . . 0.152 . 0.052 . HET 1 . . . . . . . . . . . . . V.57 . ENST00000409832 I.87 -3.73 . 1.000000 Q6S5H5 . . . . . 0.018 . . . 0.0037 0.0007 0.0016 0 0.0006 0 0 0.0019 0.0025 0.0005 0.0002 0 0 0 0 0.0002 0 . . 0.133 . -0.754 -0.754000 . . 1.000000 . . 1.0E-255 0.236 0.245 . 0.043 0.001 . 0.105 . 0.003 -0.754 -1.589 . rs4525782 rs4525782 rs4525782 rs4525782 1 1538 10 1/0 0,254,255 +. 14 19558846 A C - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558846 19558846 Chr14(GRCh37):g.19558846A>C 636+15 636+15 NM_001005356.2:c.636+15A>C p.? p.? 2 2 608916 15 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.77652 0 0.000256 0.000514 0.000000 0.000000 0.000000 0.000000 0.000241 0.000000 0.000000 0.000514 2 1 0 0 0 0 1 0 0 7826 1946 210 96 388 0 4146 790 250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion A C A>C 0.000 0.205 195 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 102.0 . . . . . . . . . . -0.2136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +. 14 19558852 T A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558852 19558852 Chr14(GRCh37):g.19558852T>A 636+21 636+21 NM_001005356.2:c.636+21T>A p.? p.? 2 2 608916 21 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.58525 0 0.000264 0.000543 0.000000 0.000000 0.000000 0.000000 0.000248 0.000000 0.000000 0.000543 2 1 0 0 0 0 1 0 0 7562 1840 204 98 390 0 4036 752 242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 34 Genomes transversion T A T>A 0.000 0.448 197 PASS . . . . . . . . . . . . . . . . 0.1509434 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.0702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +rs748656804 14 19558861 A G - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558861 19558861 Chr14(GRCh37):g.19558861A>G 636+30 636+30 NM_001005356.2:c.636+30A>G p.? p.? 2 2 608916 30 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 3.08691 0 Cryptic Donor Strongly Activated 19558861 2.84724 0.027996 70.3663 7.07454 0.301322 82.5023 rs748656804 no no 0 A 0.000000 0 0.000295 0.000959 0.000328 0.000000 0.000000 0.000662 0.000097 0.000000 0.001355 0.000959 7 3 1 0 0 1 1 0 1 23754 3128 3046 628 2196 1510 10332 2176 738 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 1 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.4021739 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . . . . . . . -0.3790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.09 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs748656804 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0003 0.0004 0 0 0 0.0002 0 0.0007 0.0010 0.0004 0 0 0 0 0 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4508698 rs4508698 rs4508698 rs4508698 1 1538 10 1/0 0,255,255 +rs374721827 14 19558962 G A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19558962 19558962 Chr14(GRCh37):g.19558962G>A 637-29 637-29 NM_001005356.2:c.637-29G>A p.? p.? 3 2 608916 -29 3' 78.709 4.30101 0.029015 1.14835 78.709 4.30101 0.029015 1.29043 0 rs374721827 yes no Frequency 1 G 0.000000 0 0.000122 0.000938 0.000081 0.000000 0.000208 0.000045 0.000076 0.000000 0.000000 0.000938 24 11 2 0 3 1 7 0 0 196152 11726 24628 8254 14444 22404 92484 17732 4480 0.083333 0.181818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 20 7 2 0 3 1 7 0 0 0 0 0 0 0 0 0 0 0 RF 71 Exomes 7526 3609 11135 0 7 7 0 0.00193584 0.000628253 0 0.00193584 0.000628253 58 transition G A G>A 0.008 0.448 241 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . . 0.0019 0.0006 . 0.0019 0.0006 . . -0.1810 . . . . . . . . 2.780e-04 . . . 0.0019 0.0003 0 0.0007 0 0.0001 0 8.649e-05 0.0019 0.0002 0 0.0003 0 6.952e-05 0 8.697e-05 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs374721827 . . . . . . . . . . . . . . . . . . . . . . . 0.000628 . . . . . 0.0009 0.0001 8.121e-05 0 0.0002 0 7.569e-05 0 4.463e-05 . . . . . . . . . . . . . . . . . . . 1.0E-241 . . . . . . . . . . . 0.0019 rs2040155 rs2040155 rs2040155 rs2040155 1 1538 10 1/0 0,255,255 +rs760841885 14 19559050 G A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution synonymous exon GRCh37 19559050 19559050 Chr14(GRCh37):g.19559050G>A 696 696 NM_001005356.2:c.696G>A p.Pro232= p.Pro232Pro 3 608916 60 3' 78.709 4.30101 0.029015 1.14835 78.709 4.30101 0.029015 0 0 Ankyrin repeat Ankyrin repeat-containing domain rs760841885 yes no Frequency 1 G 0.000000 0 0.000189 0.000478 0.000274 0.000000 0.000128 0.000527 0.000098 0.000000 0.000390 0.000527 41 8 7 0 2 12 10 0 2 216466 16728 25574 8434 15640 22770 102220 19974 5126 0.000046 0.000120 0.000078 0.000000 0.000000 0.000264 0.000000 0.000000 0.000000 5 1 1 0 0 3 0 0 0 31 6 5 0 2 6 10 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3980097|COSM3980097 Oesophagus|Haematopoietic and lymphoid tissue 0.000712|0.000283 1405|3530 transition G A G>A 0.465 -0.360 P Pro CCG 0.115 P Pro CCA 0.274 232 255 PASS . . . . . . . . . . . . POTEG:uc001vuz.1:exon3:c.G696A:p.P232P POTEG:NM_001005356:exon3:c.G696A:p.P232P . . 0.68421054 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 38.0 . . . . . . . . . . -0.1655 . . . . . . . . 5.755e-04 . . . 0.0008 0.0003 0.0001 0.0002 0 0.0001 0 0.0006 0.0006 0.0002 0.0001 0 0 6.791e-05 0 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.3 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs760841885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0.0002 0 6.89e-05 0 8.716e-05 0 0.0005 0.0004 0.0004 0.0018 0 0.0009 0 0.0002 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3931625 rs3931625 rs3931625 rs3931625 1 1538 10 1/0 0,255,255 +. 14 19578344 A C - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19578344 19578344 Chr14(GRCh37):g.19578344A>C 1409+3992 1409+3992 NM_001005356.2:c.1409+3992A>C p.? p.? 9 9 608916 3992 5' 100 X.83 0.999028 6.73022 100 X.83 0.999028 6.73022 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 12 0 0 0 0 24 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -0.037 231 PASS . . . . . . . . . . . ENSG00000222036:ENST00000547889:exon10:c.A1429C:p.N477H . . . . 0.24637681 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 69.0 . . . . . . . . . . -0.3111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . 0 . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 19578359 C T - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution intron GRCh37 19578359 19578359 Chr14(GRCh37):g.19578359C>T 1409+4007 1409+4007 NM_001005356.2:c.1409+4007C>T p.? p.? 9 9 608916 4007 5' 100 X.83 0.999028 6.73022 100 X.83 0.999028 6.73022 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 18 2 0 0 0 40 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 847 Genomes transition C T C>T 0.000 -0.602 176 PASS . . . . . . . . . . . ENSG00000222036:ENST00000547889:exon10:c.C1444T:p.L482F . . . . 0.10526316 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 57.0 . . . . . . . . . . -0.4211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000222036 POTEG POTEG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . 0 . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs879735083 14 19582995 G A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution synonymous exon GRCh37 19582995 19582995 Chr14(GRCh37):g.19582995G>A 1434 1434 NM_001005356.2:c.1434G>A p.Lys478= p.Lys478Lys 10 608916 25 3' 86.5899 5.40091 0.878524 4.17236 86.5899 5.40091 0.878524 4.32202 0 rs879735083 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 258 38 6 10 14 12 82 92 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 158 Exomes transition G A G>A 0.961 0.528 K Lys AAG 0.575 K Lys AAA 0.425 478 253 PASS . . . . . . . . . . . ENSG00000222036:ENST00000409832:exon10:c.G1434A:p.K478K POTEG:uc001vuz.1:exon10:c.G1434A:p.K478K POTEG:NM_001005356:exon10:c.G1434A:p.K478K . . 0.32258064 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 31.0 . . . . . . . . . . 0.4219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.69 182 ENSG00000222036 POTEG POTEG . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs2845178 rs2845178 rs2845178 rs2845178 1 1538 10 1/0 0,255,255 +rs201363560 14 19585414 G A - POTEG 33896 POTE ankyrin domain family, member G NM_001005356.2 1 1926 1527 NP_001005356.1 A6NI47 substitution downstream GRCh37 19585414 19585414 Chr14(GRCh37):g.19585414G>A *819 *819 NM_001005356.2:c.*819G>A p.? p.? 11 608916 818 3' 80.198 4.93135 0.960317 3.69646 80.198 4.93135 0.960317 3.69646 0 rs201363560 yes no Frequency 1 A 0.000000 0 0.005817 0.013635 0.001441 0.000000 0.009420 0.000000 0.002718 0.002675 0.001096 0.013635 166 103 1 0 13 0 39 9 1 28538 7554 694 286 1380 0 14348 3364 912 0.006024 0.000000 0.000000 0.000000 0.076923 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 164 103 1 0 11 0 39 9 1 0 0 0 0 0 0 0 0 0 RF 59 Genomes transition G A G>A 1.000 3.272 205 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 348.0 . . . . . . . . . . 0.1187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 downstream downstream . . . @ . . . 0.54 0.7 182 ENSG00000222036 POTEG POTEG ENST00000409832:c.*819G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201363560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0136 0.0058 0.0014 0 0.0094 0.0027 0.0027 0.0011 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . rs2261632 rs2261632 rs2261632 rs201363560 1 1538 10 1/0 0,179,255 +. 14 19671576 C T - BMS1P17 49162 BMS1 pseudogene 17 NR_073460.1 -1 725 0 substitution intron GRCh37 19671576 19671576 Chr14(GRCh37):g.19671576C>T 412-471 412-471 NR_073460.1:n.412-471G>A p.? p.? 3 2 -471 3' 86.6928 10.1238 0.952536 3.79262 86.6928 10.1238 0.952536 3.79262 0 Cryptic Acceptor Weakly Activated 19671557 0.012982 70.8971 0.833783 0.013435 70.8971 0.001817 0.000473 0.000000 0.000000 0.000000 0.000000 0.002430 0.002553 0.002725 0.002553 38 2 0 0 0 0 27 7 2 20916 4230 682 224 1192 0 11112 2742 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 2 0 0 0 0 27 7 2 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition G A G>A 1.000 2.546 208 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0018 0 0 0 0.0026 0.0024 0.0027 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 19671576 C T - BMS1P18 19436 BMS1 pseudogene 18 NR_073459.1 -1 725 0 substitution intron GRCh37 19671576 19671576 Chr14(GRCh37):g.19671576C>T 412-471 412-471 NR_073459.1:n.412-471G>A p.? p.? 3 2 -471 3' 86.6928 10.1238 0.952536 3.79262 86.6928 10.1238 0.952536 3.79262 0 Cryptic Acceptor Weakly Activated 19671557 0.012982 70.8971 0.833783 0.013435 70.8971 0.001817 0.000473 0.000000 0.000000 0.000000 0.000000 0.002430 0.002553 0.002725 0.002553 38 2 0 0 0 0 27 7 2 20916 4230 682 224 1192 0 11112 2742 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 2 0 0 0 0 27 7 2 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition G A G>A 1.000 2.546 208 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0018 0 0 0 0.0026 0.0024 0.0027 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 19671576 C T - DUXAP10 32189 Double homeobox A pseudogene 10 NR_110526.1 1 2398 0 substitution intron GRCh37 19671576 19671576 Chr14(GRCh37):g.19671576C>T 741-9019 741-9019 NR_110526.1:n.741-9019C>T p.? p.? 7 6 -9019 3' 95.4391 9.54342 0.96426 6.22016 95.4391 9.54342 0.96426 6.22016 0 Cryptic Acceptor Strongly Activated 19671581 0.533887 0.002235 70.3219 1.53983 0.007596 73.8675 0.001817 0.000473 0.000000 0.000000 0.000000 0.000000 0.002430 0.002553 0.002725 0.002553 38 2 0 0 0 0 27 7 2 20916 4230 682 224 1192 0 11112 2742 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 2 0 0 0 0 27 7 2 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition C T C>T 1.000 2.546 208 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0018 0 0 0 0.0026 0.0024 0.0027 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr14:19742803 G/C) 14 19742803 G C Not on a known gene +rs878946107 (chr14:19807395 C/A) 14 19807395 C A Not on a known gene +rs879324480 (chr14:19903788 G/A) 14 19903788 G A Not on a known gene +. (chr14:19903867 C/T) 14 19903867 C T Not on a known gene +rs78285901 14 19988242 A C - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution 3'UTR GRCh37 19988242 19988242 Chr14(GRCh37):g.19988242A>C *799 *799 NM_001145442.1:c.*799T>G p.? p.? 11 798 3' 80.198 4.93135 0.960317 3.69646 80.198 4.93135 0.960317 3.69646 0 Cryptic Acceptor Strongly Activated 19988242 0.101375 1.17054 0.630839 rs78285901 yes no Frequency 1 0.000000 0 transversion T G T>G 1.000 0.205 182 PASS . . . . . . . . . . . . . . . . 0.11682243 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 428.0 . . UTR_3_PRIME(MODIFIER||||POTEM|mRNA|CODING|NM_001145442|NM_001145442.ex.11) . . . . . . . -0.4599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.58 0.75 182 ENSG00000187537 POTEM POTEM ENST00000551509:c.*799T>G uc001vwc.3:c.*799T>G NM_001145442:c.*799T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs2465690 rs2465690 rs2465690 rs2465690 1 1538 10 1/0 0,165,255 +. 14 19988666 G A - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution 3'UTR GRCh37 19988666 19988666 Chr14(GRCh37):g.19988666G>A *375 *375 NM_001145442.1:c.*375C>T p.? p.? 11 374 3' 80.198 4.93135 0.960317 3.69646 80.198 4.93135 0.960317 3.69646 0 transition C T C>T 1.000 3.111 179 PASS . . . . . . . . . . . . . . . . 0.110552765 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 199.0 . . UTR_3_PRIME(MODIFIER||||POTEM|mRNA|CODING|NM_001145442|NM_001145442.ex.11) . . . . . . . 0.2751 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000187537 POTEM POTEM ENST00000551509:c.*375C>T uc001vwc.3:c.*375C>T NM_001145442:c.*375C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,255 +. 14 19995277 G A - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 19995277 19995277 Chr14(GRCh37):g.19995277G>A 1409+4008 1409+4008 NM_001145442.1:c.1409+4008C>T p.? p.? 9 9 4008 5' 100 X.83 0.999028 6.73022 100 X.83 0.999028 6.73022 0 transition C T C>T 0.000 -0.117 216 PASS . . . . . . . . . . . ENSG00000187537:ENST00000547848:exon10:c.C1444T:p.L482F . . . . 0.20833333 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . INTRON(MODIFIER||||POTEM|mRNA|CODING|NM_001145442|) . . . . . . . -0.8402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.13 . . . . . . . . . . . . . III.12 . ENST00000344684 0.761 -0.336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.127 -0.127000 . . . . . 1.0E-216 . . . . . . . . . -0.127 . . . . . . 1 1538 10 1/0 0,255,255 +rs201096243 14 19999393 G C - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution missense exon GRCh37 19999393 19999393 Chr14(GRCh37):g.19999393G>C 1301 1301 NM_001145442.1:c.1301C>G p.Pro434Arg p.Pro434Arg 9 59 3' 78.9179 6.67872 0.275223 IV.36 78.9179 6.67872 0.275223 V.12 0 rs201096243 yes no Frequency 1 G 0.000000 0 0.003763 0.001986 0.005435 0.000000 0.011634 0.004808 0.002035 0.000000 0.004854 0.011634 127 14 24 0 46 17 22 0 4 33752 7050 4416 702 3954 3536 10810 2460 824 0.000415 0.000000 0.000000 0.000000 0.002023 0.000566 0.000370 0.000000 0.000000 7 0 0 0 4 1 2 0 0 113 14 24 0 38 15 18 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.732 P Pro CCT 0.283 R Arg CGT 0.082 434 12 1 -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Tolerated 0.66 II.76 bad 1.784E-5 0.3341 188 PASS . . . . . . . . . . . . POTEM:uc001vwc.3:exon9:c.C1301G:p.P434R POTEM:NM_001145442:exon9:c.C1301G:p.P434R . . 0.13207547 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.093 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cGt|P434R|POTEM|mRNA|CODING|NM_001145442|NM_001145442.ex.9) . . . . . . . -1.4901 -1.616 -1.490 c . . . . . 4.623e-04 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.058 @ . . . 0.49 0.72 182 ENSG00000187537 POTEM POTEM . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.139 . . 0.243 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.501 . . . . . 0.082 . 0.144 . LowAF 0.03 rs201096243 . . . . . . . . . . . . III.18 . . I.29 -2.58 . . A6NI47 . . . . . 0.007 . . . 0.0014 0.0043 0.0057 0 0.0121 0 0.0018 0.0052 0.0048 0.0024 0.0025 0 0 0.0090 0 0.0023 0.0041 . . 0.133 . -1.781 -1.781000 . . . . . 1.0E-188 0.000 0.063 . 0.016 0.000 . 0.020 . 0.085 -1.781 -0.802 . . . rs201096243 rs201096243 1 1538 10 1/0 0,255,255 +. 14 20014802 T C - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20014802 20014802 Chr14(GRCh37):g.20014802T>C 636+30 636+30 NM_001145442.1:c.636+30A>G p.? p.? 2 2 30 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 3.08691 0 Cryptic Donor Strongly Activated 20014802 2.84724 0.027996 70.3663 7.07454 0.301322 82.5023 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.5860215 . . @ 109 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . -0.3995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.3 182 ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4508698 rs4508698 rs4508698 rs4508698 1 1538 10 1/0 0,240,251 +. 14 20014811 A T - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20014811 20014811 Chr14(GRCh37):g.20014811A>T 636+21 636+21 NM_001145442.1:c.636+21T>A p.? p.? 2 2 21 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.58525 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion T A T>A 0.000 0.932 224 PASS . . . . . . . . . . . . . . . . 0.22564103 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 195.0 . . . . . . . . . . -0.1409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +. 14 20014817 T G - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20014817 20014817 Chr14(GRCh37):g.20014817T>G 636+15 636+15 NM_001145442.1:c.636+15A>C p.? p.? 2 2 15 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.77652 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A C A>C 0.000 -0.360 219 PASS . . . . . . . . . . . . . . . . 0.21105528 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 199.0 . . . . . . . . . . -0.3030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +. 14 20014867 T C - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution missense exon GRCh37 20014867 20014867 Chr14(GRCh37):g.20014867T>C 601 601 NM_001145442.1:c.601A>G p.Ile201Val p.Ile201Val 2 -36 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 3.04537 0 Ankyrin repeat Ankyrin repeat-containing domain transition A G A>G 0.992 0.448 I Ile ATC 0.481 V Val GTC 0.240 201 12 2 Orangutan 3 3 4 0 0 5.II 5.IX 111 84 29 C0 157.03 0.00 Tolerated 1 II.67 good 7.807E-1 0.508 255 PASS . . . . . . . . . . . . POTEM:uc001vwc.3:exon2:c.A601G:p.I201V POTEM:NM_001145442:exon2:c.A601G:p.I201V . . 0.5 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.008 . . 164.0 . . . . . . . . . . -1.4947 -1.512 -1.495 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.639 . . exonic exonic exonic . . 0.055 @ . . . 0.39 0.41 182 ENSG00000187537 POTEM POTEM . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.008 . . . . T 0.111 0.004 . . 37 . 0.326 . . 0.139 . . . 0.037 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.043 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 1 0.010 . . . . . 0.065 . 0.132 . HET 1 . . . . . . . . . . . . . III.48 . . 1.IV -2.79 . . A6NI47 . . . . . 0.169 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.298 -0.298000 . . . . . 1.0E-255 0.927 0.319 . 0.016 0.001 . 0.185 . 0.001 -0.298 -1.640 . rs4525782 rs4525782 rs4525782 rs4525782 1 1538 10 1/0 0,240,255 +. 14 20014954 G A - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20014954 20014954 Chr14(GRCh37):g.20014954G>A 522-8 522-8 NM_001145442.1:c.522-8C>T p.? p.? 2 1 -8 3' 78.903 7.63058 0.895947 5.96953 80.7129 7.94346 0.883919 6.38367 0.0168387 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.56969696 . . @ 94 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 165.0 . . . . . . . . . . -0.4188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.26 182 ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4440050 rs4440050 rs4440050 rs4440050 1 1538 10 1/0 0,245,255 +. 14 20015018 C T - POTEM 37096 POTE ankyrin domain family, member M NM_001145442.1 -1 6666 1527 NP_001138914.1 A6NI47 substitution intron GRCh37 20015018 20015018 Chr14(GRCh37):g.20015018C>T 522-72 522-72 NM_001145442.1:c.522-72G>A p.? p.? 2 1 -72 3' 78.903 7.63058 0.895947 5.96953 78.903 7.63058 0.895947 6.11351 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 7399 Genomes transition G A G>A 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.54330707 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . -0.6043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.3 182 ENSG00000187537 POTEM POTEM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4561744 rs4561744 rs4561744 rs4561744 1 1538 10 1/0 0,255,255 +rs1590546 14 20181348 A G - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181348 20181348 Chr14(GRCh37):g.20181348A>G 728 728 NM_001197287.1:c.728T>C p.Met243Thr p.Met243Thr 2 754 3' 0 0 0 0 0 0 0 0 0 rs1590546 yes no Frequency 1 A 0.000000 0 0.001298 0.002851 0.002361 0.000000 0.000710 0.001753 0.000522 0.001778 0.003166 0.002851 238 49 52 0 10 36 41 35 15 183408 17186 22026 6666 14076 20538 78498 19680 4738 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000025 0.000000 0.000000 1 0 0 0 0 0 1 0 0 236 49 52 0 10 36 39 35 15 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.031 1.093 M Met ATG 1.000 T Thr ACG 0.116 243 10 8 Giant panda -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C35 20.52 69.84 Deleterious 0.02 IV.32 186 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.T728C:p.M243T OR11H2:NM_001197287:exon2:c.T728C:p.M243T . . 0.12698413 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.033 . . 63.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M243T|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . -0.0182 -0.165 -0.018 n . . . . . 9.258e-04 . . . 0.0033 0.0016 0.0104 0 0.0014 0.0006 0.0036 0.0011 0.0043 0.0016 0.0108 0 0.0015 0.0006 0.0045 0.0011 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.204 @ . . . 0.49 0.3 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.408 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.226 . 0.455 . LowAF 0 rs1590546 . . . . . . . . . . . . . . . . . . . . . . . . . 0.085 . . . 0.0029 0.0013 0.0024 0 0.0006 0.0021 0.0006 0.0039 0.0018 0.0028 0.0011 0.0013 0 0.0013 0 0.0004 0 . . 0.009 . . . . . . . . 1.0E-186 0.000 0.063 . 0.043 0.118 . 0.242 . 0.294 . 0.385 . rs1590546 rs1590546 rs1590546 rs1590546 1 1538 10 1/0 0,248,255 +rs11625510 14 20181373 G T - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181373 20181373 Chr14(GRCh37):g.20181373G>T 703 703 NM_001197287.1:c.703C>A p.Leu235Ile p.Leu235Ile 2 729 3' 0 0 0 0 0 0 0 0 0 rs11625510 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.003800 0.005100 0.000000 0.000000 0.001400 0.002142 0.009274 0.001066 0.000138 0.000267 0.003982 0.000626 0.003757 0.001214 0.009274 425 166 25 1 4 90 54 79 6 198392 17900 23454 7228 14978 22600 86260 21028 4944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 425 166 25 1 4 90 54 79 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.016 -0.037 L Leu CTT 0.129 I Ile ATT 0.356 235 10 9 Giant panda 2 2 2 0 0 4.IX 5.II 111 111 5 C0 0.00 IV.86 Deleterious 0 IV.32 184 PASS . . . . . 0.0038 0.0022 0.0014 . . 0.0051 . OR11H2:uc021rno.1:exon2:c.C703A:p.L235I OR11H2:NM_001197287:exon2:c.C703A:p.L235I . . 0.12222222 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.073 . @ . . . . . 1 0.039 . . 90.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Att|L235I|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.2037 -0.127 0.204 n . . . . . 2.114e-03 . . . 0.0181 0.0049 0.0016 0.0004 0.0059 0.0023 0.0073 0.0079 0.0176 0.0043 0.0018 0.0004 0.0061 0.0016 0.0082 0.0080 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.204 0.0022 . . . 0.46 0.29 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.640 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.078 . 0.288 . LowAF 0.01 rs11625510 . . . . . . . . . . . . . . . . . . . . . . . . . 0.069 . . . 0.0087 0.0020 0.0010 0.0001 0.0002 0.0044 0.0007 0.0007 0.0040 0.0100 0.0032 0.0027 0 0.0007 0.0003 0.0002 0.0035 . . 0.009 . . . . . . . . 9.999999999999999E-185 0.000 0.063 . 0.016 0.068 . 0.085 . 0.024 . -0.355 . rs11625510 rs11625510 rs11625510 rs11625510 1 1538 10 1/0 0,232,255 +rs11628941 14 20181423 C T - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181423 20181423 Chr14(GRCh37):g.20181423C>T 653 653 NM_001197287.1:c.653G>A p.Ser218Asn p.Ser218Asn 2 679 3' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 20181414 0.001074 0.279203 0.000753 65.8857 rs11628941 yes no Frequency 1 C 0.000000 0 0.000034 0.000142 0.000000 0.000000 0.000000 0.000000 0.000047 0.000000 0.000190 0.000142 8 2 0 0 0 0 5 0 1 235264 14094 31326 9428 16976 30068 106356 21758 5258 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 2 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 71 Exomes transition G A G>A 0.079 0.125 S Ser AGC 0.243 N Asn AAC 0.536 218 10 10 Giant panda 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C45 0.00 46.24 Deleterious 0 IV.32 180 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.G653A:p.S218N OR11H2:NM_001197287:exon2:c.G653A:p.S218N . . 0.11333334 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.098 . @ . . . . . 1 0.038 . . 150.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S218N|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.3180 -0.106 0.318 n . . . . . 8.868e-05 . . . 0.0003 9.157e-05 0 0 0 6.282e-05 0 0.0002 0.0003 0.0001 0 0 0 0.0002 0 0.0002 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.204 @ . . . 0.44 0.31 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.307 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.078 . 0.278 . LowAF 0.46 rs11628941 . . . . . . . . . . . . . . . . . . . . . . . . . 0.040 . . . 0.0001 3.4e-05 0 0 0 0 4.701e-05 0.0002 0 . . . . . . . . . . 0.009 . . . . . . . . 1.0E-180 0.000 0.063 . 0.074 0.185 . 0.066 . 0.282 . 0.642 . rs11628941 rs11628941 rs11628941 rs11628941 1 1538 10 1/0 0,210,255 +rs200825460 14 20181762 T G - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181762 20181762 Chr14(GRCh37):g.20181762T>G 314 314 NM_001197287.1:c.314A>C p.Lys105Thr p.Lys105Thr 2 340 3' 0 0 0 0 0 0 0 0 0 rs200825460 yes no Frequency 1 T 0.000000 0 0.004675 0.007185 0.002297 0.007224 0.001886 0.004557 0.005214 0.004872 0.003228 0.007224 419 90 27 14 17 32 187 44 8 89626 12526 11752 1938 9016 7022 35862 9032 2478 0.000022 0.000000 0.000170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 417 90 25 14 17 32 187 44 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.031 2.627 K Lys AAA 0.425 T Thr ACA 0.280 105 10 9 Giant panda -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 120.53 IX.71 Deleterious 0.03 IV.32 181 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.A314C:p.K105T OR11H2:NM_001197287:exon2:c.A314C:p.K105T . . 0.11627907 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.067 . @ . . . . . 1 0.045 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aCa|K105T|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.0660 -0.148 0.066 n . . . . . 1.748e-03 . . . 0.0316 0.0139 0.0051 0 0.0172 0.0109 0.04 0.01 0.0312 0.0150 0.0062 0 0.0098 0.0121 0 0.0101 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.193 @ . . . 0.4 0.33 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.415 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.207 . 0.489 . LowAF 0.01 rs200825460 . . . . . . . . . . . . . . . . . . . . . . . . . 0.165 . . . 0.0075 0.0045 0.0022 0.0071 0.0018 0.0055 0.0052 0.0035 0.0046 0.0069 0.0053 0.0043 0.0085 0.0025 0.0036 0.0052 0.0026 . . 0.009 . . . . . . . . 1.0E-181 0.513 0.268 . 0.043 0.180 . 0.472 . 0.287 . 0.728 . rs2815978 rs2815978 rs2815978 rs200825460 1 1538 10 1/0 0,234,255 +rs201517204 14 20181807 G A - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181807 20181807 Chr14(GRCh37):g.20181807G>A 269 269 NM_001197287.1:c.269C>T p.Ser90Phe p.Ser90Phe 2 295 3' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Weakly Activated 20181798 7.86772 0.911627 86.9652 7.58861 0.949341 89.6771 rs201517204 yes no Frequency 1 0.000000 0 0.001418 0.002229 0.001654 0.000000 0.000675 0.002728 0.000901 0.002171 0.001220 0.002728 127 28 21 0 6 19 32 18 3 89554 12560 12700 2196 8886 6964 35498 8290 2460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127 28 21 0 6 19 32 18 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.134 0.205 S Ser TCT 0.185 F Phe TTT 0.454 90 10 10 Giant panda -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C65 0.00 154.81 Deleterious 0 IV.32 176 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.C269T:p.S90F OR11H2:NM_001197287:exon2:c.C269T:p.S90F . . 0.10606061 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.089 . @ . . . . . 1 0.055 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S90F|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.3754 -0.095 0.375 n . . . . . 2.520e-04 . . . 0.0053 0.0024 0.0046 0 0 0.0018 0 0 0.0041 0.0012 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.193 @ . . . 0.47 0.31 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.728 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.302 . 0.577 . LowAF 0.02 rs201517204 . . . . . . . . . . . . . . . . . . . . . . . . . 0.139 . . . 0.0015 0.0010 0.0013 0 0.0006 0.0011 0.0006 0.0006 0.0027 0.0029 0.0026 0.0082 0 0.0011 0.0043 0.0017 0.0030 . . 0.009 . . . . . . . . 1.0E-176 0.109 0.228 . 0.043 0.062 . 0.461 . 0.014 . 0.671 . rs2508162 rs2508162 rs2508162 rs201517204 1 1538 10 1/0 0,244,255 +rs767716308 14 20181810 A G - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181810 20181810 Chr14(GRCh37):g.20181810A>G 266 266 NM_001197287.1:c.266T>C p.Val89Ala p.Val89Ala 2 292 3' 0 0 0 0 0 0 0 0 0 rs767716308 yes no Frequency 1 0.000000 0 0.000176 0.001024 0.000077 0.000000 0.000000 0.000000 0.000028 0.000000 0.000398 0.001024 16 13 1 0 0 0 1 0 1 90766 12698 12980 2224 8946 6980 35920 8504 2514 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 13 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.291 0.528 V Val GTC 0.240 A Ala GCC 0.403 89 10 10 Giant panda 0 0 -1 0 0 5.IX 8.I 84 31 64 C65 0.00 65.28 Deleterious 0 IV.32 183 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.T266C:p.V89A OR11H2:NM_001197287:exon2:c.T266C:p.V89A . . 0.121212125 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.016 . . 66.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gCc|V89A|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . 0.2853 -0.111 0.285 n . . . . . 4.487e-05 . . . 0.0013 0.0005 0 0.0043 0 0 0 0 0.0020 0.0006 0 0 0 0 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.193 @ . . . 0.49 0.36 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.082 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.056 . 0.433 . LowAF 0.02 rs767716308 . . . . . . . . . . . . . . . . . . . . . . . . . 0.033 . . . 0.0010 0.0001 8.104e-05 0 0 0 0 0.0005 0 0.0011 0.0004 0 0 0 0 0.0001 0 . . 0.009 . . . . . . . . 1.0E-183 0.000 0.063 . 0.062 0.043 . 0.216 . 0.294 . -0.080 . rs61969156 rs61969156 rs61969156 rs61969156 1 1538 10 1/0 0,246,255 +rs759418864 14 20181888 A G - OR11H2 14716 Olfactory receptor, family 11, subfamily H, member 2 NM_001197287.1 -1 1085 981 NP_001184216.1 Q8NH07 substitution missense exon GRCh37 20181888 20181888 Chr14(GRCh37):g.20181888A>G 188 188 NM_001197287.1:c.188T>C p.Val63Ala p.Val63Ala 2 214 3' 0 0 0 0 0 0 0 0 0 rs759418864 yes no Frequency 1 0.000000 0 0.000255 0.000393 0.000311 0.000000 0.000157 0.000324 0.000267 0.000086 0.000000 0.000393 42 7 8 0 2 5 19 1 0 164632 17830 25724 6226 12700 15428 71064 11568 4092 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 7 8 0 2 5 19 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.417 -0.440 V Val GTC 0.240 A Ala GCC 0.403 63 10 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 65.28 0.00 Tolerated 1 IV.32 203 PASS . . . . . . . . . . . . OR11H2:uc021rno.1:exon2:c.T188C:p.V63A OR11H2:NM_001197287:exon2:c.T188C:p.V63A . . 0.1724138 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.075 . @ . . . . . 1 0.012 . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gCc|V63A|OR11H2|mRNA|CODING|NM_001197287|NM_001197287.ex.2) . . . . . . . -0.3068 -0.198 -0.307 n . . . . . 1.607e-04 . . . 0.0002 4.681e-05 0 0 0 5.191e-05 0 0 0 2.049e-05 0 0 0 4.091e-05 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . 0.193 @ . . . 0.51 0.3 182 ENSG00000258453 OR11H2 OR11H2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.158 . . . . . 1 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.036 . 0.176 . HET 1 rs759418864 . . . . . . . . . . . . . . . . . . . . . . . . . 0.006 . . . 0.0003 0.0002 0.0003 0 0.0002 9.872e-05 0.0002 0 0.0003 0.0007 0.0006 0.002 0 0 0 0.0006 0 . . 0.009 . . . . . . . . 1.0E-203 0.000 0.063 . 0.043 0.001 . 0.175 . 0.102 . -0.377 . . . rs71235604 rs71235604 1 1538 10 1/0 0,255,255 +rs61976670 14 20228227 G A - OR4H12P 19433 Olfactory receptor family 4 subfamily H member 12 pseudogene ENST00000556269.1 1 907 0 substitution exon GRCh37 20228227 20228227 Chr14(GRCh37):g.20228227G>A 201 201 ENST00000556269.1:n.201G>A 1 rs61976670 no no 0 G 0.000000 0 0.000067 0.000122 0.000000 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000122 2 1 0 0 0 0 1 0 0 29708 8210 808 296 1530 0 14514 3386 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition G A G>A 0.858 0.125 175 PASS . . . . . . . . . . . . . . . . 0.10285714 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 175.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.48 0.31 182 ENSG00000176312 . . . dist\x3d11699\x3bdist\x3d20255 dist\x3d11699\x3bdist\x3d20255 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs61976670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.732e-05 0 0 0 0 6.89e-05 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs61976670 rs61976670 rs61976670 rs61976670 1 1538 10 1/0 0,202,255 +rs61976671 14 20228250 C A - OR4H12P 19433 Olfactory receptor family 4 subfamily H member 12 pseudogene ENST00000556269.1 1 907 0 substitution exon GRCh37 20228250 20228250 Chr14(GRCh37):g.20228250C>A 224 224 ENST00000556269.1:n.224C>A 1 rs61976671 no no 0 C 0.000000 0 0.001122 0.001673 0.001319 0.000000 0.002046 0.000000 0.000786 0.000911 0.001068 0.002046 32 13 1 0 3 0 11 3 1 28512 7772 758 292 1466 0 13996 3292 936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 13 1 0 3 0 11 3 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transversion C A C>A 0.913 1.013 202 PASS . . . . . . . . . . . . . . . . 0.16477273 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 176.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.8176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.43 0.42 182 ENSG00000176312 . . . dist\x3d11722\x3bdist\x3d20232 dist\x3d11722\x3bdist\x3d20232 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.2 rs61976671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.65 . . . . . . . . . 0.0017 0.0011 0.0013 0 0.0020 0.0009 0.0008 0.0011 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs61976671 rs61976671 rs61976671 rs61976671 1 1538 10 1/0 0,207,255 +rs201578209 14 20228483 C G - OR4H12P 19433 Olfactory receptor family 4 subfamily H member 12 pseudogene ENST00000556269.1 1 907 0 substitution exon GRCh37 20228483 20228483 Chr14(GRCh37):g.20228483C>G 457 457 ENST00000556269.1:n.457C>G 1 rs201578209 yes no Frequency 1 C 0.000000 0 0.000377 0.000119 0.001289 0.000000 0.000000 0.000000 0.000576 0.000000 0.001059 0.001289 11 1 1 0 0 0 8 0 1 29166 8384 776 280 1516 0 13898 3368 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 1 0 0 0 8 0 1 0 0 0 0 0 0 0 0 0 RF 56 Genomes transversion C G C>G 0.000 0.205 195 PASS . . . . . . . . . . . . . . . . 0.14691943 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 211.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.3121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.39 0.35 182 ENSG00000176312 . . . dist\x3d11955\x3bdist\x3d19999 dist\x3d11955\x3bdist\x3d19999 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.15 rs201578209 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0004 0.0013 0 0 0 0.0006 0.0011 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs77756995 rs201578209 1 1538 10 1/0 0,199,255 +. 14 21553032 A C - ARHGEF40 25516 Rho guanine nucleotide exchange factor (GEF) 40 NM_018071.4 1 5937 4560 NP_060541.3 Q8TER5 substitution missense exon GRCh37 21553032 21553032 Chr14(GRCh37):g.21553032A>C 3910 3910 NM_018071.4:c.3910A>C p.Lys1304Gln p.Lys1304Gln 18 610018 -51 5' 83.5791 9.78232 0.969513 4.55633 83.5791 9.78232 0.969513 4.23762 0 Pleckstrin homology domain transversion A C A>C 1.000 2.950 K Lys AAG 0.575 Q Gln CAG 0.744 1304 12 11 Zebrafish 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 26.00 38.19 Deleterious 0.03 II.87 186 PASS . . . . . . . . . . . . . . . . 0.12765957 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.819 . @ . . . . . 1 0.766 . . 47.0 . . . . . . . . . . 0.4809 0.536 0.481 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.028 . . exonic exonic exonic . . 0.782 @ . . . . . . ENSG00000165801 ARHGEF40 ARHGEF40 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . T 0.385 0.017 . . 37 . 0.101 . . 0.345 . . . 0.444 0.335 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.899 . . 0.832 . . . . . . 0 0.265 . . . . . 0.601 . 0.610 . LowAF 0.01 . . . . . . . . . . . . . 13.3898 . . V.41 V.41 . 0.260000 . . . . . . 0.483 . . V.41 . . . . . . . . . . . . . . . . . . . 0.522 . 2.048 2.048000 . . 0.260000 . . 1.0E-186 1.000 0.715 . 0.625 0.821 . 0.790 . 0.866 2.048 1.062 . . . . . 1 1538 10 1.I 0,0,0 +rs61744173 14 21896192 G A - CHD8 20153 Chromodomain helicase DNA binding protein 8 NM_001170629.1 -1 8230 7746 NP_001164100.1 Q9HCK8 substitution synonymous exon GRCh37 21896192 21896192 Chr14(GRCh37):g.21896192G>A 1437 1437 NM_001170629.1:c.1437C>T p.Asn479= p.Asn479Asn 3 610528 -165 5' 83.5016 9.09532 0.991741 6.93812 83.5016 9.09532 0.991741 6.93812 0 rs61744173 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.007000 0.004300 0.009022 0.002081 0.002005 0.001872 0.000000 0.005685 0.012996 0.019077 0.007583 0.019077 2501 50 69 19 0 175 1647 492 49 277220 24022 34416 10150 18866 30782 126732 25790 6462 0.000180 0.000000 0.000000 0.000000 0.000000 0.000325 0.000205 0.000465 0.000310 25 0 0 0 0 5 13 6 1 2451 50 69 19 0 165 1621 480 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8251 4058 12309 99 8 107 0.0118563 0.00196754 0.00861791 0.0118563 0.00196754 0.00861791 142 transition C T C>T 1.000 1.900 N Asn AAC 0.536 N Asn AAT 0.464 479 255 PASS . 0.01 0.01 . 0.01 . 0.0022 0.0043 . 0.007 0.001 . . . . . 0.43589744 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 117.0 . . . 0.002 0.0086 0.012 0.002 0.0086 0.012 . I.96 . . . . . . . . 8.693e-03 . . . 0.0020 0.0071 0.0018 0 0.0163 0.0101 0.0071 0.0062 0.0021 0.0082 0.0019 0 0.0169 0.0111 0.0116 0.0062 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0022 . . . 0.45 0.26 182 ENSG00000100888 CHD8 CHD8 . . . . . . 785 0.0120814 64976 774 0.012903 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61744173 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.008618 . . . . III.57 0.0018 0.0089 0.0020 0.0019 0 0.0192 0.0129 0.0073 0.0057 0.0025 0.0097 0.0012 0 0 0.0183 0.0136 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs61744173 rs61744173 1 1538 10 1/0 0,250,255 +rs141218414 14 21945836 A G - RAB2B 20246 RAB2B, member RAS oncogene family NM_032846.3 -1 2928 651 NP_116235.2 Q8WUD1 substitution upstream GRCh37 21945836 21945836 Chr14(GRCh37):g.21945836A>G -805 -805 NM_032846.3:c.-805T>C p.? p.? 1 607466 -851 5' 81.5254 8.66175 0.948405 9.66492 81.5254 8.66175 0.948405 9.66492 0 rs141218414 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.001000 0.000000 0.008000 0.000000 0.008108 0.000688 0.001193 0.000000 0.000000 0.000000 0.009603 0.026045 0.009165 0.026045 251 6 1 0 0 0 144 91 9 30956 8724 838 302 1620 0 14996 3494 982 0.015936 0.000000 0.000000 0.000000 0.000000 0.000000 0.006944 0.032967 0.000000 4 0 0 0 0 0 1 3 0 243 6 1 0 0 0 142 85 9 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition T C T>C 0.000 -1.247 255 PASS . 0.0037 . . 0.01 . 0.0018 . . 0.008 0.001 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.9007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.17 0.19 182 ENSG00000092203 TOX4 TOX4 . . . . . . 190 0.00292416 64976 181 0.00301737 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141218414 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2422459 . . . . . . . . . . . . . . . 0.0007 0.0081 0.0012 0 0 0.0260 0.0096 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs141218414 rs141218414 1 1538 10 1/0 0,255,255 +rs141218414 14 21945836 A G - TOX4 20161 TOX high mobility group box family member 4 NM_014828.3 1 4526 1866 NP_055643.1 O94842 substitution intron GRCh37 21945836 21945836 Chr14(GRCh37):g.21945836A>G 75+113 75+113 NM_014828.3:c.75+113A>G p.? p.? 2 2 614032 113 5' 86.8044 8.70331 0.984098 10.1846 86.8044 8.70331 0.984098 10.1846 0 rs141218414 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.001000 0.000000 0.008000 0.000000 0.008108 0.000688 0.001193 0.000000 0.000000 0.000000 0.009603 0.026045 0.009165 0.026045 251 6 1 0 0 0 144 91 9 30956 8724 838 302 1620 0 14996 3494 982 0.015936 0.000000 0.000000 0.000000 0.000000 0.000000 0.006944 0.032967 0.000000 4 0 0 0 0 0 1 3 0 243 6 1 0 0 0 142 85 9 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition A G A>G 0.000 -1.247 255 PASS . 0.0037 . . 0.01 . 0.0018 . . 0.008 0.001 . . . . . 0.6101695 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.9007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.17 0.19 182 ENSG00000092203 TOX4 TOX4 . . . . . . 190 0.00292416 64976 181 0.00301737 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141218414 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2422459 . . . . . . . . . . . . . . . 0.0007 0.0081 0.0012 0 0 0.0260 0.0096 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs141218414 rs141218414 1 1538 10 1/0 0,255,255 +rs118145417 14 22038895 A G - OR10G3 8171 Olfactory receptor, family 10, subfamily G, member 3 NM_001005465.1 -1 942 942 NP_001005465.1 Q8NGC4 substitution upstream GRCh37 22038895 22038895 Chr14(GRCh37):g.22038895A>G -20 -20 NM_001005465.1:c.-20T>C p.? p.? 1 rs118145417 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.000000 0.003100 0.000000 0.005000 0.000000 0.004021 0.000923 0.001016 0.000185 0.000000 0.002720 0.006591 0.003568 0.005036 0.006591 854 21 27 1 0 51 682 47 25 212386 22752 26584 5412 17274 18748 103480 13172 4964 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 852 21 27 1 0 51 680 47 25 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8512 4352 12864 58 0 58 0.00676779 0 0.00448847 0.00676779 0 0.00448847 28 transition T C T>C 0.913 0.044 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.005 0.0031 . . . . . 0.52380955 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . UPSTREAM(MODIFIER||||OR10G3|mRNA|CODING|NM_001005465|) . 0.0045 0.0068 . 0.0045 0.0068 . 0.1179 . . . . . . . . 4.109e-03 . . . 0.0007 0.0034 0.0005 0 0.0037 0.0055 0.0035 0.0024 0.0006 0.0044 0.0005 0 0.0038 0.0068 0.0068 0.0023 . . . . . . upstream upstream upstream . . . 0.0016 . . . 0.38 0.19 182 ENSG00000169208 OR10G3 OR10G3 . . . . . . 296 0.00455553 64976 288 0.00480112 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs118145417 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2422459 0.004488 . . . . . 0.0008 0.0041 0.0010 0.0002 0 0.0038 0.0068 0.0053 0.0027 0.0011 0.0035 0.0024 0 0 0.0029 0.0055 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs118145417 rs118145417 1 1538 10 1/0 0,255,255 +. (chr14:22293554 G/GC) 14 22293554 G GC Not on a known gene +rs142953305 (chr14:22908077 C/T) 14 22908077 C T Not on a known gene +. (chr14:22975756 G/GCACACACACA) 14 22975756 G GCACACACACA Not on a known gene +. (chr14:22978451 G/GC) 14 22978451 G GC Not on a known gene +. (chr14:22999179 T/TC) 14 22999179 T TC Not on a known gene +. (chr14:23002265 GC/G) 14 23002265 GC G Not on a known gene +rs139766694 14 23465542 T A - C14orf93 20162 Chromosome 14 open reading frame 93 NM_001130706.2 -1 2244 1617 NP_001124178.1 Q9H972 substitution intron GRCh37 23465542 23465542 Chr14(GRCh37):g.23465542T>A 598-65 598-65 NM_001130706.2:c.598-65A>T p.? p.? 4 3 -65 3' 83.5794 6.35084 0.976625 5.21636 83.5794 6.35084 0.976625 5.49508 0 Cryptic Acceptor Strongly Activated 23465527 0.397358 0.000983 74.7683 0.896214 0.007655 74.7683 rs139766694 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.000000 0.002000 0.000000 0.014900 0.004300 0.007327 0.001259 0.004773 0.006623 0.000000 0.000000 0.010662 0.010876 0.012220 0.010876 227 11 4 2 0 0 160 38 12 30980 8736 838 302 1622 0 15006 3494 982 0.004405 0.000000 0.000000 0.000000 0.000000 0.000000 0.006250 0.000000 0.000000 1 0 0 0 0 0 1 0 0 225 11 4 2 0 0 158 38 12 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion A T A>T 0.008 0.125 255 PASS . 0.01 0.0028 . 0.01 . 0.004 0.0043 . 0.015 0.002 . . . . . 0.38709676 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . 0.1758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0040 . . . 0.45 0.17 182 ENSG00000258457 C14orf93 C14orf93 . . . . . . 663 0.0102038 64976 643 0.0107192 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139766694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0073 0.0048 0.0066 0 0.0109 0.0107 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs139766694 rs139766694 1 1538 10 1/0 0,255,255 +rs4144360 (chr14:23504238 G/A) 14 23504238 G A Transcript NM_002797.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) PSMB5 +. 14 23548783 A AGACCGT - ACIN1 17066 Apoptotic chromatin condensation inducer 1 NM_014977.3 -1 4938 4026 NP_055792.1 Q9UKV3 insertion in-frame exon GRCh37 23548783 23548784 Chr14(GRCh37):g.23548783_23548784insGACCGT 1934 1935 NM_014977.3:c.1934_1935insACGGTC p.Arg646_Ser647dup p.Arg646_Ser647dup 6 604562 -28 5' 83.1949 8.39958 0.977237 8.09306 83.1949 8.39958 0.977237 8.90602 0 ACGGTC 255 Pass . . . . . . . . . . . . . . . . 0.44444445 . . . 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000100813 ACIN1 ACIN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +rs2231802 14 23829365 G A - EFS 16898 Embryonal Fyn-associated substrate NM_005864.3 -1 3120 1686 NP_005855.1 O43281 substitution synonymous exon GRCh37 23829365 23829365 Chr14(GRCh37):g.23829365G>A 423 423 NM_005864.3:c.423C>T p.Pro141= p.Pro141Pro 3 609906 -16 5' 87.5642 8.40856 0.871978 6.56833 87.5642 8.40856 0.871978 6.11721 0 rs2231802 yes no Frequency/1000G 2 G 0.000000 0 0.003395 0.000800 0.002000 0.000000 0.011900 0.002900 0.006700 0.001373 0.004736 0.001773 0.000106 0.007439 0.009149 0.007949 0.007423 0.009149 1857 33 163 18 2 229 1159 205 48 277178 24028 34416 10150 18868 30782 126680 25788 6466 0.000058 0.000000 0.000058 0.000000 0.000000 0.000065 0.000095 0.000000 0.000000 8 0 1 0 0 1 6 0 0 1841 33 161 18 2 227 1147 205 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4400 12931 69 6 75 0.00802326 0.00136178 0.00576657 0.00802326 0.00136178 0.00576657 77 transition C T C>T 0.087 -0.360 P Pro CCC 0.328 P Pro CCT 0.283 141 255 PASS 0.002 0.0041 . . 0.01 0.0008 0.0034 0.0029 . 0.012 0.002 . . . . . 0.49253732 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 134.0 . . . 0.0014 0.0058 0.008 0.0014 0.0058 0.008 . 0.5035 . . . . . . . . 6.811e-03 . . . 0.0015 0.0063 0.0045 0.0002 0.0055 0.0085 0.0098 0.0070 0.0015 0.0066 0.0044 0.0001 0.0060 0.0087 0.0130 0.0069 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0034 . . . 0.25 0.4 182 ENSG00000100842 EFS EFS . . . . . . 481 0.00740273 64976 465 0.00775181 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2231802 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv901493 0.005767 . . . . . 0.0014 0.0068 0.0048 0.0018 5.798e-05 0.0077 0.0092 0.0071 0.0074 0.0013 0.0061 0.0036 0 0.0006 0.0095 0.0088 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2231802 rs2231802 rs2231802 rs2231802 1 1538 10 1/0 0,247,255 +rs62621251 14 24662296 T C - TM9SF1 11864 Transmembrane 9 superfamily member 1 NM_006405.6 -1 2501 1821 NP_006396.2 O15321 substitution missense exon GRCh37 24662296 24662296 Chr14(GRCh37):g.24662296T>C 525 525 NM_006405.6:c.525A>G p.Ile175Met p.Ile175Met 3 180 3' 87.0458 9.30774 0.996411 7.59707 87.0458 9.30774 0.996411 7.59707 0 Nonaspanin (TM9SF) rs62621251 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.000000 0.000000 0.000000 0.012900 0.008600 0.007586 0.002123 0.004561 0.002364 0.000000 0.002501 0.010480 0.014888 0.012682 0.014888 2103 51 157 24 0 77 1328 384 82 277218 24020 34420 10152 18868 30782 126718 25792 6466 0.000079 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000465 0.000309 11 0 0 0 0 0 4 6 1 2081 51 157 24 0 77 1320 372 80 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8513 4397 12910 87 9 96 0.0101163 0.00204267 0.00738121 0.0101163 0.00204267 0.00738121 100 transition A G A>G 1.000 3.353 I Ile ATA 0.163 M Met ATG 1.000 175 12 11 Baker's yeast 2 1 2 0 0 5.II 5.VII 111 105 10 C0 28.68 0.00 Deleterious 0.01 III.47 255 PASS . 0.01 0.01 . 0.01 . 0.0038 0.0086 . 0.013 . . . . . . 0.45185184 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.592 . @ . . . . . 1 0.699 . . 135.0 . . . 0.002 0.0074 0.01 0.002 0.0074 0.01 . 0.2785 0.332 0.278 c . . . . . 8.058e-03 . . . 0.0022 0.0071 0.0056 0 0.0200 0.0100 0.0056 0.0032 0.0022 0.0080 0.0055 0 0.0160 0.0111 0.0086 0.0032 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.542 . . exonic exonic exonic . . 0.446 0.0038 . . . 0.49 0.29 182 . TM9SF1 TM9SF1 . . . 1.000 0.747 . 685 0.0105424 64976 667 0.0111193 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.536 . . 0.615 . . . 0.793 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.516 . . 0.595 . . . . . . 0 0.481 . . . . . 0.353 . 0.485 . HET 0.04 rs62621251 0.011 0.007 . . . . . 0.005036630036630037 0.0 0.008287292817679558 0.0 0.010554089709762533 9.0359 0.002943 . 5.I III.94 . 0.010000 . . . Name\x3dnsv1220 0.007381 . 0.494 . . III.94 0.0021 0.0076 0.0045 0.0024 0 0.0150 0.0106 0.0119 0.0025 0.0022 0.0075 0.0072 0 0 0.0143 0.0093 0.0173 . . 0.730 . 2.137 2.137000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.501 . 0.580 2.137 -0.013 0.011 rs62621251 rs62621251 rs62621251 rs62621251 1 1538 10 1/0 0,248,255 +rs139893717 14 24775287 G A - CIDEB 1977 Cell death-inducing DFFA-like effector b NM_001318807.1 -1 2385 660 NP_001305736.1 Q9UHD4 substitution synonymous exon GRCh37 24775287 24775287 Chr14(GRCh37):g.24775287G>A 393 393 NM_001318807.1:c.393C>T p.Ile131= p.Ile131Ile 7 604441 57 3' 0 1.82339 0.037777 I.13 0 1.82339 0.037777 0 0 rs139893717 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.002000 0.007200 0.004459 0.001707 0.002179 0.012313 0.000159 0.000942 0.007010 0.001551 0.005415 0.012313 1236 41 75 125 3 29 888 40 35 277172 24022 34418 10152 18870 30782 126670 25794 6464 0.000058 0.000000 0.000000 0.000394 0.000000 0.000065 0.000079 0.000000 0.000000 8 0 0 2 0 1 5 0 0 1220 41 75 121 3 27 878 40 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4397 12925 72 9 81 0.00837209 0.00204267 0.00622789 0.00837209 0.00204267 0.00622789 176 transition C T C>T 0.992 0.044 I Ile ATC 0.481 I Ile ATT 0.356 131 255 PASS . 0.0032 0.01 . 0.004 . 0.0016 0.0072 . 0.002 0.001 . . CIDEB:NM_014430:exon6:c.C393T:p.I131I . . 0.61702126 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 47.0 . . . 0.002 0.0062 0.0084 0.002 0.0062 0.0084 . 0.9505 . . . . . . . . 4.704e-03 . . . 0.0019 0.0044 0.0025 0.0004 0.0008 0.0077 0.0070 0.0008 0.0021 0.0045 0.0024 0.0003 0.0014 0.0075 0.0087 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.61 0.34 182 ENSG00000136305 CIDEB CIDEB . . . . . . 343 0.00527887 64976 335 0.00558464 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139893717 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006228 . . . . . 0.0019 0.0045 0.0022 0.0123 0.0002 0.0016 0.0070 0.0051 0.0009 0.0014 0.0041 0 0.0132 0 0.0011 0.0067 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139893717 rs139893717 1 1538 10 1/0 0,255,255 +rs139893717 14 24775287 G A - NOP9 19826 NOP9 nucleolar protein NM_174913.2 1 6043 1911 NP_777573.1 Q86U38 substitution 3'UTR GRCh37 24775287 24775287 Chr14(GRCh37):g.24775287G>A *986 *986 NM_174913.2:c.*986G>A p.? p.? 10 1144 3' 91.2065 8.87168 0.946046 VI.22 91.2065 8.87168 0.946046 VI.22 0 rs139893717 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.002000 0.007200 0.004459 0.001707 0.002179 0.012313 0.000159 0.000942 0.007010 0.001551 0.005415 0.012313 1236 41 75 125 3 29 888 40 35 277172 24022 34418 10152 18870 30782 126670 25794 6464 0.000058 0.000000 0.000000 0.000394 0.000000 0.000065 0.000079 0.000000 0.000000 8 0 0 2 0 1 5 0 0 1220 41 75 121 3 27 878 40 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4397 12925 72 9 81 0.00837209 0.00204267 0.00622789 0.00837209 0.00204267 0.00622789 176 transition G A G>A 0.992 0.044 255 PASS . 0.0032 0.01 . 0.004 . 0.0016 0.0072 . 0.002 0.001 . . CIDEB:NM_014430:exon6:c.C393T:p.I131I . . 0.61702126 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 47.0 . . . 0.002 0.0062 0.0084 0.002 0.0062 0.0084 . 0.9505 . . . . . . . . 4.704e-03 . . . 0.0019 0.0044 0.0025 0.0004 0.0008 0.0077 0.0070 0.0008 0.0021 0.0045 0.0024 0.0003 0.0014 0.0075 0.0087 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.61 0.34 182 ENSG00000136305 CIDEB CIDEB . . . . . . 343 0.00527887 64976 335 0.00558464 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139893717 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006228 . . . . . 0.0019 0.0045 0.0022 0.0123 0.0002 0.0016 0.0070 0.0051 0.0009 0.0014 0.0041 0 0.0132 0 0.0011 0.0067 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139893717 rs139893717 1 1538 10 1/0 0,255,255 +rs747354146 14 24806875 T G - RIPK3 10021 Receptor-interacting serine-threonine kinase 3 NM_006871.3 -1 1921 1557 NP_006862.2 Q9Y572 substitution intron GRCh37 24806875 24806875 Chr14(GRCh37):g.24806875T>G 900+26 900+26 NM_006871.3:c.900+26A>C p.? p.? 7 7 605817 26 5' 86.4167 XI.33 0.992836 XI.55 86.4167 XI.33 0.992836 XI.17 0 transversion A C A>C 0.008 1.013 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 82 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . 0.4322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000129465 RIPK3 RIPK3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.II . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs759141485 14 32031305 A G - NUBPL 20278 Nucleotide binding protein-like NM_025152.2 1 3059 960 NP_079428.2 Q8TB37 substitution missense exon GRCh37 32031305 32031305 Chr14(GRCh37):g.32031305A>G 140 140 NM_025152.2:c.140A>G p.Gln47Arg p.Gln47Arg 2 613621 32 3' 82.1034 3.89457 0.935235 7.45417 82.1034 3.89457 0.935235 7.98769 0 rs759141485 yes no Frequency 1 A uncertain_significance 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000819 0.000000 0.000819 21 0 0 0 0 0 0 21 0 271336 23490 34172 10060 18416 30336 122818 25656 6388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 0 0 0 0 0 0 21 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000197999.1 germline clinical testing VUS 1 not specified transition A G A>G 1.000 3.595 Q Gln CAA 0.256 R Arg CGA 0.110 47 13 8 C. elegans 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 196.80 5.VII Tolerated 0.45 3.VIII good 5.683E-1 0.6511 255 PASS . . . . . . . . . . . . NUBPL:uc001wrk.4:exon2:c.A140G:p.Q47R NUBPL:NM_025152:exon2:c.A140G:p.Q47R . . 0.4651163 . . germline 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.223 . Uncertain//\@significance Uncertain_significance RCV000197999.1 not_specified MedGen CN169374 1 0.612 . . 43.0 . . . . . . . . . . -0.0169 0.212 -0.017 c . . . . . 5.594e-05 . . . 0 3.205e-05 0 0 0.0006 0 0 0 0 8.758e-05 0 0 0.0012 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.914 @ . . . . . . ENSG00000151413 NUBPL NUBPL . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.335 . . . . T 0.095 0.004 . . 37 . 0.343 . . 0.105 . . . 0.413 0.341 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.336 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.682 . . . . . 0.615 . 0.302 . HET 0.37 rs759141485 . . . . . . . . . . . . 13.6378 . . V.78 V.78 . 0.170000 Q8TB37 . . . . . 0.486 . . V.78 0 4.992e-05 0 0 0 0.0005 0 0 0 0 0.0003 0 0 0 0.0026 0 0 . . 0.218 . 2.200 2.200000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.750 0.981 . 0.766 . 0.881 2.200 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs117806037 (chr14:32487775 C/G) 14 32487775 C G Not on a known gene +rs72669608 (chr14:34561605 C/T) 14 34561605 C T Not on a known gene +. 14 34993859 A ATGTGTGTGTG - EAPP 19312 E2F-associated phosphoprotein NM_018453.3 -1 1348 858 NP_060923.2 Q56P03 insertion intron GRCh37 34993859 34993860 Chr14(GRCh37):g.34993859_34993860insTGTGTGTGTG 581+43 581+44 NM_018453.3:c.581+43_581+44insCACACACACA p.? p.? 5 5 609486 43 5' 82.2818 8.99306 0.940982 2.26355 82.2818 8.99306 0.940982 1.26376 0 0.252196 0.235200 0.304700 0.188500 0.309100 0.220500 CACACACACA 255 Pass . . . . . 0.24 0.25 0.22 0.19 0.31 0.3 . . . . . 0.42857143 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 35 . . INTRON(MODIFIER||||EAPP|mRNA|CODING|NM_018453|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000129518 EAPP EAPP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111420332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111420332 rs111420332 1 1538 10 1.I 0,12,37 +rs61981524 14 34993863 A G - EAPP 19312 E2F-associated phosphoprotein NM_018453.3 -1 1348 858 NP_060923.2 Q56P03 substitution intron GRCh37 34993863 34993863 Chr14(GRCh37):g.34993863A>G 581+40 581+40 NM_018453.3:c.581+40T>C p.? p.? 5 5 609486 40 5' 82.2818 8.99306 0.940982 2.26355 82.2818 8.99306 0.940982 2.14588 0 rs61981524 yes no Frequency/1000G 2 A 0.000000 0 0.486022 0.453100 0.521500 0.434500 0.543700 0.489900 transition T C T>C 0.000 -0.763 255 PASS 0.39 0.37 0.33 0.24 0.46 0.45 0.49 0.49 0.43 0.54 0.52 . . . . . 0.51428574 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . INTRON(MODIFIER||||EAPP|mRNA|CODING|NM_018453|) . . . . . . . -0.5880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.4860 . . . 0.16 0.11 182 ENSG00000129518 EAPP EAPP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61981524 0.141 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs61981524 rs61981524 rs61981524 rs61981524 1 1538 10 1/0 0,255,255 +. 14 34993863 A ATGTGTGTGTGTGTG - EAPP 19312 E2F-associated phosphoprotein NM_018453.3 -1 1348 858 NP_060923.2 Q56P03 duplication intron GRCh37 34993863 34993864 Chr14(GRCh37):g.34993864_34993877dup 581+26 581+39 NM_018453.3:c.581+26_581+39dup p.? p.? 5 5 609486 39 5' 82.2818 8.99306 0.940982 2.26355 82.2818 8.99306 0.940982 1.90221 0 rs71121205 yes no Frequency 1 0.000000 0 0.271765 0.098300 0.314900 0.411700 0.260400 0.354500 CACACACACACACA 255 Pass . . . . . 0.098 0.27 0.35 0.41 0.26 0.31 . . . . . 0.29166666 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . INTRON(MODIFIER||||EAPP|mRNA|CODING|NM_018453|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000129518 EAPP EAPP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367795110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,54 +rs77411712 (chr14:36400962 C/T) 14 36400962 C T Not on a known gene +rs140584714 14 50088085 G T - MGAT2 7045 Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase NM_002408.3 1 2711 1344 NP_002399.1 Q10469 substitution missense exon GRCh37 50088085 50088085 Chr14(GRCh37):g.50088085G>T 99 99 NM_002408.3:c.99G>T p.Lys33Asn p.Lys33Asn 1 602616 rs140584714 yes no Frequency/1000G 2 G benign 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.003000 0.000000 0.001523 0.000343 0.001488 0.000802 0.000053 0.001435 0.002310 0.000117 0.002524 0.002310 412 8 51 8 1 44 281 3 16 270500 23326 34274 9978 18704 30652 121656 25572 6338 0.000015 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 408 8 51 8 1 42 279 3 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4402 12983 17 2 19 0.0019772 0.000454133 0.00146131 0.0019772 0.000454133 0.00146131 18 RCV000202676.1 unknown clinical testing Benign 1 not specified transversion G T G>T 1.000 2.223 K Lys AAG 0.575 N Asn AAT 0.464 33 11 9 Tetraodon 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 144.23 IV.86 Tolerated 0.53 III.32 good 1.332E-1 0.07047 255 PASS . 0.0005 . . 0.0013 . 0.0008 . . 0.003 0.001 ENSG00000168282:ENST00000305386:exon1:c.G99T:p.K33N MGAT2:uc001wwr.3:exon1:c.G99T:p.K33N MGAT2:NM_002408:exon1:c.G99T:p.K33N . . 0.47619048 . . unknown 40 . . 1.2.2016 0 0 0 0 0 0 1 0 0 0 0 0 . . . . . . 0.470 . Benign Benign RCV000202676.1 not_specified MedGen CN169374 1 0.640 . . 84.0 . . . 0.0005 0.0015 0.002 0.0005 0.0015 0.002 . 0.2442 0.294 0.244 c . . . . . 1.551e-03 . . . 0.0002 0.0019 0.0009 0 0 0.0032 0.0032 0.0014 0.0003 0.0015 0.0009 0.0001 0 0.0022 0.0046 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.898 . . exonic exonic exonic . . 0.464 0.0008 . . . 0.3 0.53 182 ENSG00000168282 MGAT2 MGAT2 . . . 1.000 0.747 . 122 0.00187762 64976 118 0.00196713 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.958 0.545 . . 37 . 0.823 . . 0.809 . . . 0.592 0.442 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.541 . . 0.441 . . . . . . 2 0.912 . . . . . 0.371 . 0.313 . HET 0 rs140584714 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 IX.56 2.68E-4 . V.88 4.VI . 0.050000 Q10469 . . Name\x3desv28926 0.001461 . 0.440 . . 4.VI 0.0001 0.0016 0.0015 0.0008 5.854e-05 0.0001 0.0023 0.0030 0.0014 0.0007 0.0012 0 0 0 0 0.0021 0 . . 0.072 . 0.844 0.844000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.750 0.999 . 0.440 . 0.713 0.844 0.917 0.002 . . rs140584714 rs140584714 1 1538 10 1/0 0,255,255 +rs140584714 14 50088085 G T - RPL36AL 10346 Ribosomal protein L36a-like NM_001001.4 -1 577 321 NP_000992.1 Q969Q0 substitution upstream GRCh37 50088085 50088085 Chr14(GRCh37):g.50088085G>T -842 -842 NM_001001.4:c.-842C>A p.? p.? 1 180469 -806 5' 81.1791 9.86249 0.992112 7.72602 81.1791 9.86249 0.992112 7.72602 0 rs140584714 yes no Frequency/1000G 2 G benign 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.003000 0.000000 0.001523 0.000343 0.001488 0.000802 0.000053 0.001435 0.002310 0.000117 0.002524 0.002310 412 8 51 8 1 44 281 3 16 270500 23326 34274 9978 18704 30652 121656 25572 6338 0.000015 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000000 0.000000 2 0 0 0 0 1 1 0 0 408 8 51 8 1 42 279 3 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4402 12983 17 2 19 0.0019772 0.000454133 0.00146131 0.0019772 0.000454133 0.00146131 18 RCV000202676.1 unknown clinical testing Benign 1 not specified transversion C A C>A 1.000 2.223 255 PASS . 0.0005 . . 0.0013 . 0.0008 . . 0.003 0.001 ENSG00000168282:ENST00000305386:exon1:c.G99T:p.K33N MGAT2:uc001wwr.3:exon1:c.G99T:p.K33N MGAT2:NM_002408:exon1:c.G99T:p.K33N . . 0.47619048 . . unknown 40 . . 1.2.2016 0 0 0 0 0 0 1 0 0 0 0 0 . . . . . . 0.470 . Benign Benign RCV000202676.1 not_specified MedGen CN169374 1 0.640 . . 84.0 . . . 0.0005 0.0015 0.002 0.0005 0.0015 0.002 . 0.2442 0.294 0.244 c . . . . . 1.551e-03 . . . 0.0002 0.0019 0.0009 0 0 0.0032 0.0032 0.0014 0.0003 0.0015 0.0009 0.0001 0 0.0022 0.0046 0.0014 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.898 . . exonic exonic exonic . . 0.464 0.0008 . . . 0.3 0.53 182 ENSG00000168282 MGAT2 MGAT2 . . . 1.000 0.747 . 122 0.00187762 64976 118 0.00196713 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.958 0.545 . . 37 . 0.823 . . 0.809 . . . 0.592 0.442 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.541 . . 0.441 . . . . . . 2 0.912 . . . . . 0.371 . 0.313 . HET 0 rs140584714 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 IX.56 2.68E-4 . V.88 4.VI . 0.050000 Q10469 . . Name\x3desv28926 0.001461 . 0.440 . . 4.VI 0.0001 0.0016 0.0015 0.0008 5.854e-05 0.0001 0.0023 0.0030 0.0014 0.0007 0.0012 0 0 0 0 0.0021 0 . . 0.072 . 0.844 0.844000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.750 0.999 . 0.440 . 0.713 0.844 0.917 0.002 . . rs140584714 rs140584714 1 1538 10 1/0 0,255,255 +rs140551199 14 50915566 C G - MAP4K5 6867 Mitogen-activated protein kinase kinase kinase kinase 5 NM_198794.2 -1 4435 2541 NP_942089.1 Q9Y4K4 substitution intron GRCh37 50915566 50915566 Chr14(GRCh37):g.50915566C>G 1016-16 1016-16 NM_198794.2:c.1016-16G>C p.? p.? 15 14 604923 -16 3' 86.133 8.49608 0.614541 5.40553 86.133 9.16183 0.82897 6.20881 0.142428 Cryptic Acceptor Weakly Activated 50915550 8.49608 0.614541 86.133 9.16183 0.82897 86.133 rs140551199 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.002000 0.005800 0.002664 0.000113 0.000858 0.029492 0.000000 0.000000 0.002546 0.000000 0.004002 0.029492 509 2 19 259 0 0 210 0 19 191096 17768 22146 8782 12860 20814 82484 21494 4748 0.000042 0.000000 0.000000 0.000683 0.000000 0.000000 0.000024 0.000000 0.000000 4 0 0 3 0 0 1 0 0 501 2 19 253 0 0 208 0 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8111 3648 11759 35 0 35 0.00429659 0 0.00296761 0.00429659 0 0.00296761 62 transversion G C G>C 0.173 0.205 255 PASS . 0.0014 0.01 . 0.0013 . 0.0012 0.0058 . 0.002 . . MAP4K5:uc001wyc.1:exon1:c.G22C:p.V8L . . . 0.5 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . 0.003 0.0043 . 0.003 0.0043 . 0.6055 . . . . . . . . 1.658e-03 . . . 0.0003 0.0048 0.0053 0 0 0.0098 0.0081 0 0.0004 0.0044 0.0051 0 0.0005 0.0109 0.0095 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . 0.0012 . . . 0.74 0.21 182 ENSG00000259113 MAP4K5 MAP4K5 . . . . . . 129 0.00198535 64976 123 0.00205048 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140551199 . . . . . . . . . . . . . . . . . . . . . . . 0.002968 . . . . . 0.0002 0.0029 0.0009 0.0290 0 0 0.0026 0.0050 0 0 0.0016 0 0.0430 0 0 0.0024 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs140551199 rs140551199 1 1538 10 1/0 0,255,255 +. 14 51713995 A ATCT - TMX1 15487 Thioredoxin-related transmembrane protein 1 NM_030755.4 1 4104 843 NP_110382.3 Q9H3N1 insertion intron GRCh37 51713996 51713997 Chr14(GRCh37):g.51713996_51713997insCTT 443+58 443+59 NM_030755.4:c.443+58_443+59insCTT p.? p.? 4 4 610527 58 5' 74.3427 7.96403 0.921696 0 74.3427 7.96403 0.921696 0 0 Cryptic Acceptor Strongly Activated 51714010 1.91685 0.000386 77.7974 3.88179 0.006004 77.7974 CTT 255 Pass . . . . . . . . . . . . . . . . 0.5217391 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . INTRON(MODIFIER||||TMX1|mRNA|CODING|NM_030755|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000139921 TMX1 TMX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,28 +rs371444265 14 52187089 A G - FRMD6 19839 FERM domain containing 6 NM_001267046.1 1 4852 1869 NP_001253975.1 Q96NE9 substitution synonymous exon GRCh37 52187089 52187089 Chr14(GRCh37):g.52187089A>G 1341 1341 NM_001267046.1:c.1341A>G p.Glu447= p.Glu447Glu 11 614555 -20 5' 73.1574 4.86721 0.539224 3.26928 73.1574 4.86721 0.539224 3.14141 0 rs371444265 yes no Frequency 1 A 0.000000 0 0.000026 0.000000 0.000000 0.000000 0.000000 0.000000 0.000040 0.000078 0.000000 0.000078 7 0 0 0 0 0 5 2 0 273514 23550 34394 10082 18816 30762 123730 25764 6416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4402 12999 1 0 1 0.000116306 0 7.69231e-05 0.000116306 0 7.69231e-05 29 transition A G A>G 0.362 -0.924 E Glu GAA 0.417 E Glu GAG 0.583 447 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.6957 . . . . . . . . 7.894e-06 . . . 0 1.158e-05 0 0 0 2.547e-05 0 0 0 9.701e-06 0 0 0 1.901e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.22 182 ENSG00000139926 FRMD6 FRMD6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371444265 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv901946 0.000077 . . . . . 0 2.474e-05 0 0 0 4.49e-05 4.599e-05 0 0 0 3.229e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs371444265 rs371444265 1 1538 10 1/0 0,250,255 +. 14 55848635 T C - ATG14 19962 Autophagy related 14 NM_014924.4 -1 4743 1479 NP_055739.2 Q6ZNE5 substitution intron GRCh37 55848635 55848635 Chr14(GRCh37):g.55848635T>C 877+45 877+45 NM_014924.4:c.877+45A>G p.? p.? 6 6 613515 45 5' 81.7977 7.53822 0.846293 0 81.7977 7.53822 0.846293 0 0 New Donor Site 55848636 2.37999 0.016752 65.7386 transition A G A>G 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.5555556 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . INTRON(MODIFIER||||ATG14|mRNA|CODING|NM_014924|) . . . . . . . -0.4290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000126775 ATG14 ATG14 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 59978366 A ATT - CCDC175 19847 Coiled-coil domain containing 175 NM_001164399.1 -1 2610 2382 NP_001157871.1 insertion intron GRCh37 59978366 59978367 Chr14(GRCh37):g.59978366_59978367insTT 2142+111 2142+112 NM_001164399.1:c.2142+111_2142+112insAA p.? p.? 18 18 111 5' 95.331 X.37 0.995648 0 95.331 X.37 0.995648 0 0 AA 255 Pass . . . . . . . . . . . . . . . . 0.9130435 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . INTRON(MODIFIER||||CCDC175|mRNA|CODING|NM_001164399|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000258782 CCDC175 CCDC175 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,4 +. 14 60932583 ACACACAC A - C14orf39 19849 Chromosome 14 open reading frame 39 NM_174978.2 -1 2763 1764 NP_777638.2 Q8N1H7 deletion intron GRCh37 60932583 60932589 Chr14(GRCh37):g.60932583_60932589del 972+108 972+114 NM_174978.2:c.972+108_972+114del p.? p.? 11 11 617307 108 5' 89.9194 X.02 0.961113 3.51669 89.9194 X.02 0.961113 3.51669 0 GTGTGTG 255 Pass . . . . . . . . . . . . . . . . 0.9411765 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . INTRON(MODIFIER||||C14orf39|mRNA|CODING|NM_174978|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000179008 C14orf39 C14orf39 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,2,3 +. 14 61191030 C A - SIX4 10890 SIX homeobox 4 NM_017420.4 -1 6275 2346 NP_059116.3 Q9UIU6 substitution upstream GRCh37 61191030 61191030 Chr14(GRCh37):g.61191030C>A -238 -238 NM_017420.4:c.-238G>T p.? p.? 1 606342 -1101 5' 89.5524 9.59704 0.99597 13.0013 89.5524 9.59704 0.99597 13.0013 0 New Donor Site 61191032 IV.85 0.18901 70.2698 rs927701002 yes no Frequency 1 C 0.000000 0 0.000162 0.000000 0.000000 0.006623 0.000000 0.000000 0.000134 0.000000 0.001020 0.006623 5 0 0 2 0 0 2 0 1 30834 8688 834 302 1614 0 14922 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 2 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 35 Genomes transversion G T G>T 1.000 2.627 255 PASS . . . . . . . . . . . . . . . . 0.5046729 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . UPSTREAM(MODIFIER||||SIX4|mRNA|CODING|NM_017420|) . . . . . . . II.57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 upstream . . . @ . . . . . . ENSG00000100625 SIX4 SIX4 ENST00000556952:c.-54G>T uc010app.1:c.-54G>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv902001 . . . . . 4.IV . . . . . . . . . 0 0.0002 0 0.0066 0 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066289 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066289 64066289 Chr14(GRCh37):g.64066289A>G 372 372 NM_001008726.2:c.372T>C p.Asn124= p.Asn124Asn 4 403 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs995642969 no no 0 A 0.000000 0 0.000033 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000118 1 1 0 0 0 0 0 0 0 30366 8510 818 302 1548 0 14784 3436 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.992 1.174 N Asn AAT 0.464 N Asn AAC 0.536 124 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . 1.1173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . II.77 . . . . . . . . . 0.0001 3.293e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066302 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066302 64066302 Chr14(GRCh37):g.64066302C>T 359 359 NM_001008726.2:c.359G>A p.Ser120Asn p.Ser120Asn 4 390 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs1049802936 no no 0 C 0.000000 0 0.000133 0.000236 0.000000 0.000000 0.000000 0.000000 0.000136 0.000000 0.000000 0.000236 4 2 0 0 0 0 2 0 0 30140 8470 812 298 1524 0 14664 3406 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition G A G>A 1.000 3.918 S Ser AGT 0.149 N Asn AAT 0.464 120 12 11 Baker's yeast 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 111.67 39.34 Tolerated 0.06 II.86 200 PASS . . . . . . . . . . . . . . . . 0.1627907 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.755 . @ . . . . . 1 0.723 . . 43.0 . . . . . . . . . . 0.8256 0.801 0.826 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.697 . . exonic exonic exonic . . 0.857 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.678 0.059 . . 37 . 0.819 . . 0.829 . . . 0.855 0.504 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.561 . . 0 0 0 0 0 0 . 0.899 . . 0.739 . . . . . . 0 0.599 . . . . . 0.976 . 0.424 . HET 0 . . . . . . . . . . . . . 20.0377 . . V.62 V.62 . 0.010000 Q96FK6 . . Name\x3ddgv137n21 . . 0.812 . . V.62 . . . . . . . . . 0.0002 0.0001 0 0 0 0 0.0001 0 . . 0.730 . 2.822 2.822000 . . 0.010000 . . 1.0E-200 1.000 0.715 . 0.587 0.999 . 0.649 . 0.490 2.822 0.871 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066303 T G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066303 64066303 Chr14(GRCh37):g.64066303T>G 358 358 NM_001008726.2:c.358A>C p.Ser120Arg p.Ser120Arg 4 389 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs889833191 no no 0 T 0.000000 0 0.000166 0.000236 0.000000 0.000000 0.000000 0.000000 0.000205 0.000000 0.000000 0.000236 5 2 0 0 0 0 3 0 0 30124 8470 808 298 1524 0 14656 3404 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion A C A>C 1.000 2.142 S Ser AGT 0.149 R Arg CGT 0.082 120 12 11 Baker's yeast -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C15 111.67 90.15 Deleterious 0.03 II.86 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.730 . @ . . . . . 1 0.891 . . 42.0 . . . . . . . . . . 0.7303 0.702 0.730 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.698 . . exonic exonic exonic . . 0.857 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.448 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.733 0.079 . . 37 . 0.807 . . 0.830 . . . 0.855 0.520 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.712 . . 0 0 0 0 0 0 . 0.899 . . 0.739 . . . . . . 0 0.682 . . . . . 0.812 . 0.978 . HET 0 . . . . . . . . . . . . . 16.1323 . . V.62 V.62 . 0.020000 Q96FK6 . . Name\x3ddgv137n21 . . 0.742 . . V.62 . . . . . . . . . 0.0002 0.0002 0 0 0 0 0.0002 0 . . 0.730 . 2.277 2.277000 . . 0.020000 . . 1.0E-202 1.000 0.715 . 0.574 0.998 . 0.579 . 0.807 2.277 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs201238690 14 64066326 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066326 64066326 Chr14(GRCh37):g.64066326C>T 335 335 NM_001008726.2:c.335G>A p.Gly112Asp p.Gly112Asp 4 366 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs201238690 yes no Frequency 1 C 0.000000 0 0.000073 0.000254 0.000000 0.000000 0.000214 0.000000 0.000063 0.000078 0.000000 0.000254 20 6 0 0 4 0 8 2 0 275580 23602 34336 10134 18734 30764 125994 25604 6412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 6 0 0 4 0 8 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 5.774 G Gly GGT 0.162 D Asp GAT 0.461 112 12 8 Frog -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 104.18 22.66 Tolerated 0.37 II.86 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.423 . @ . . . . . 1 0.922 . . 60.0 . . . . . . . . . . 0.6673 0.717 0.667 c . . . . . 7.893e-06 . . . 0 1.107e-05 0 0 0 2.384e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.714 . . exonic exonic exonic . . 0.857 @ . . . 0.59 0.35 182 ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.529 0.030 . . 37 . 0.746 . . 0.744 . . . 0.319 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.108 . . 0 0 0 0 0 0 . 0.764 . . 0.686 . . . . . . 0 0.614 . . . . . 0.976 . 0.572 . HET 0.01 rs201238690 . . . . . . . . . . . . 20.0377 . . V.62 V.62 . 0.130000 Q96FK6 . . Name\x3ddgv137n21 . . 0.930 . . V.62 0 4.066e-06 0 0 0 0 8.967e-06 0 0 0.0007 0.0006 0 0 0.0027 0.0006 0.0005 0 . . 0.730 . 2.822 2.822000 . . 0.130000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.766 . 0.490 2.822 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs766626787 14 64066328 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066328 64066328 Chr14(GRCh37):g.64066328C>T 333 333 NM_001008726.2:c.333G>A p.Lys111= p.Lys111Lys 4 364 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 rs766626787 yes no Frequency 1 C 0.000000 0 0.000777 0.000843 0.000000 0.000000 0.004021 0.000000 0.000554 0.000601 0.000000 0.004021 23 7 0 0 6 0 8 2 0 29590 8304 778 296 1492 0 14450 3330 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 0 0 6 0 8 2 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition G A G>A 1.000 1.739 K Lys AAG 0.575 K Lys AAA 0.425 111 251 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . I.47 . . . . . . . . 7.893e-06 . . . 0 1.107e-05 0 0 0 0 0.0014 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs766626787 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . V.62 . . . . . . . . . 0.0008 0.0008 0 0 0.0040 0.0006 0.0006 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066340 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066340 64066340 Chr14(GRCh37):g.64066340A>G 321 321 NM_001008726.2:c.321T>C p.Val107= p.Val107Val 4 352 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs901783679 no no 0 A 0.000000 0 0.001311 0.001556 0.001295 0.000000 0.004642 0.000000 0.000965 0.001196 0.000000 0.004642 39 13 1 0 7 0 14 4 0 29740 8356 772 294 1508 0 14512 3344 954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 13 1 0 7 0 14 4 0 0 0 0 0 0 0 0 0 0 RF 52 Genomes transition T C T>C 0.063 -1.005 V Val GTT 0.178 V Val GTC 0.240 107 252 PASS . . . . . . . . . . . . . . . . 0.31343284 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . 0.6019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0.0016 0.0013 0.0013 0 0.0046 0.0012 0.0010 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066352 T A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066352 64066352 Chr14(GRCh37):g.64066352T>A 309 309 NM_001008726.2:c.309A>T p.Arg103Ser p.Arg103Ser 4 340 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 Cryptic Acceptor Strongly Activated 64066336 2.4e-05 63.9783 0.843465 7.6e-05 63.9783 WD40 repeat WD40-repeat-containing domain rs1009886361 no no 0 T 0.000000 0 0.001884 0.002036 0.000000 0.000000 0.007324 0.000000 0.001516 0.001793 0.000000 0.007324 56 17 0 0 11 0 22 6 0 29728 8350 774 296 1502 0 14508 3346 952 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 17 0 0 11 0 22 6 0 0 0 0 0 0 0 0 0 0 RF 53 Genomes COSM5346712 Urinary tract 0.001488 672 transversion A T A>T 0.000 -0.198 R Arg AGA 0.205 S Ser AGT 0.149 103 12 2 Chimp -1 -1 -2 0.65 I.42 10.V 9.II 124 32 110 C0 151.32 0.00 Tolerated 0.95 II.86 255 PASS . . . . . . . . . . . . . . . . 0.32394367 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.049 . . 71.0 . . . . . . . . . . -1.5243 -1.338 -1.524 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.639 . . exonic exonic exonic . . 0.169 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 0.915 0.264 . . . . . . . Uncertain_significance . 0 . 0.238 . . . . T 0.170 0.006 . . 37 . 0.191 . . 0.321 . . . 0.004 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.050 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.033 . . . . . 0.044 . 0.409 . HET 0.87 . . . . . . . . . . . . . II.63 . . V.63 0.646 . 1.000000 Q96FK6 . . Name\x3ddgv137n21 . . 0.070 . . . . . . . . . . . . 0.0020 0.0019 0 0 0.0073 0.0018 0.0015 0 . . 0.730 . 0.162 0.162000 . . 1.000000 . . 1.0E-255 0.004 0.165 . 0.458 0.035 . 0.163 . 0.108 0.162 -0.897 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066363 G A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution stop gain exon GRCh37 64066363 64066363 Chr14(GRCh37):g.64066363G>A 298 298 NM_001008726.2:c.298C>T p.Arg100* p.Arg100* 4 329 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs944955056 no no 0 G 0.000000 0 0.002055 0.002319 0.002667 0.000000 0.008075 0.000000 0.001393 0.002200 0.000000 0.008075 60 19 2 0 12 0 20 7 0 29192 8192 750 294 1486 0 14354 3182 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 19 2 0 12 0 20 7 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition C T C>T 1.000 3.030 R Arg CGA 0.110 * * TGA 0.489 100 255 PASS . . . . . . . . . . . . . . . . 0.35820895 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.959 . @ . . . . . 0 0.771 . . 67.0 . . . . . . . . . . 0.5640 0.402 0.564 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.596 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.638 . . . HET 1 . . . . . . . . . . . . . 14.0058 . . V.63 IV.74 . 1.000000 . . . Name\x3ddgv137n21 . . 0.908 . . IV.74 . . . . . . . . . 0.0023 0.0021 0.0027 0 0.0081 0.0022 0.0014 0 . . 0.730 . 1.517 1.517000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.406 0.665 . 0.931 . 0.206 1.517 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066367 A T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066367 64066367 Chr14(GRCh37):g.64066367A>T 294 294 NM_001008726.2:c.294T>A p.Asp98Glu p.Asp98Glu 4 325 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs968117645 no no 0 A 0.000000 0 0.002087 0.002194 0.002653 0.000000 0.007383 0.000000 0.001531 0.002509 0.000000 0.007383 61 18 2 0 11 0 22 8 0 29234 8206 754 294 1490 0 14368 3188 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 18 2 0 11 0 22 8 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transversion T A T>A 0.992 0.448 D Asp GAT 0.461 E Glu GAA 0.417 98 12 12 Baker's yeast 2 2 2 I.38 0.92 13 12.III 54 83 45 C35 0.00 44.60 Deleterious 0 II.86 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.530 . . 72.0 . . . . . . . . . . 0.0095 -0.116 0.010 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.682 . . exonic exonic exonic . . 0.108 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 0.923 0.267 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.697 . . 0.676 . . . 0.895 0.503 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.705 . . 0 0 0 0 0 0 . 0.559 . . 0.521 . . . . . . 0 0.912 . . . . . 0.157 . 0.663 . HET 0 . . . . . . . . . . . . . 5.441 . . V.63 -0.665 . 0.030000 Q96FK6 . . Name\x3ddgv137n21 . . 0.585 . . . . . . . . . . . . 0.0022 0.0021 0.0027 0 0.0074 0.0025 0.0015 0 . . 0.730 . -0.054 -0.054000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.512 0.856 . 0.376 . 0.263 -0.054 0.090 . . . . . 1 1538 10 1/0 0,255,255 +rs752646441 14 64066373 G A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066373 64066373 Chr14(GRCh37):g.64066373G>A 288 288 NM_001008726.2:c.288C>T p.Cys96= p.Cys96Cys 4 319 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs752646441 yes no Frequency 1 A 0.000000 0 0.000254 0.000936 0.000087 0.000000 0.000694 0.000000 0.000183 0.000353 0.000000 0.000936 70 22 3 0 13 0 23 9 0 275274 23502 34310 10140 18732 30780 125924 25482 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 22 3 0 13 0 23 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5764246 Large intestine 0.000448 2231 transition C T C>T 0.992 0.044 C Cys TGC 0.552 C Cys TGT 0.448 96 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . 1.1458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . III.24 0 4.064e-06 2.98e-05 0 0 0 0 0 0 0.0027 0.0024 0.0027 0 0.0087 0.0028 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs117229690 14 64066379 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066379 64066379 Chr14(GRCh37):g.64066379C>T 282 282 NM_001008726.2:c.282G>A p.Val94= p.Val94Val 4 313 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs117229690 yes no Frequency 1 C 0.000000 0 0.000349 0.001404 0.000233 0.000000 0.000694 0.000000 0.000230 0.000393 0.000468 0.001404 96 33 8 0 13 0 29 10 3 275306 23512 34320 10144 18732 30782 125936 25470 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 96 33 8 0 13 0 29 10 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8600 4402 13002 0 4 4 0 0.000907853 0.00030755 0 0.000907853 0.00030755 51 COSM5764303 Large intestine 0.000448 2231 transition G A G>A 0.386 -1.247 V Val GTG 0.468 V Val GTA 0.114 94 235 PASS . . . . . . . . . . . . . . . . 0.32857144 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . . 0.0009 0.0003 . 0.0009 0.0003 . . 0.1739 . . . . . . . . 9.471e-05 . . . 0.0004 0.0001 0.0003 0 0 7.138e-05 0 0 0.0004 9.438e-05 0.0004 0 0 3.687e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.24 182 ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117229690 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 0.000308 . . . . . 0.0003 6.501e-05 0.0002 0 0 0 1.792e-05 0.0004 0 0.0034 0.0027 0.0013 0 0.0087 0.0031 0.0019 0.0011 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.0009 . . rs117229690 rs117229690 1 1538 10 1/0 0,255,255 +. 14 64066394 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066394 64066394 Chr14(GRCh37):g.64066394A>G 267 267 NM_001008726.2:c.267T>C p.Cys89= p.Cys89Cys 4 298 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs959084766 no no 0 A 0.000000 0 0.003052 0.003175 0.005376 0.000000 0.008086 0.000000 0.002299 0.004104 0.001071 0.008086 89 26 4 0 12 0 33 13 1 29164 8188 744 292 1484 0 14354 3168 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 89 26 4 0 12 0 33 13 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition T C T>C 0.976 -0.037 C Cys TGT 0.448 C Cys TGC 0.552 89 255 PASS . . . . . . . . . . . . . . . . 0.33802816 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . I.40 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0.0032 0.0031 0.0054 0 0.0081 0.0041 0.0023 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066395 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066395 64066395 Chr14(GRCh37):g.64066395C>T 266 266 NM_001008726.2:c.266G>A p.Cys89Tyr p.Cys89Tyr 4 297 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs992348595 no no 0 C 0.000000 0 0.002951 0.003176 0.005405 0.000000 0.007442 0.000000 0.002091 0.004428 0.001071 0.007442 86 26 4 0 11 0 30 14 1 29142 8186 740 292 1478 0 14350 3162 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 26 4 0 11 0 30 14 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes COSM5764373 Large intestine 0.000448 2231 transition G A G>A 1.000 3.918 C Cys TGT 0.448 Y Tyr TAT 0.438 89 12 6 Frog -3 -2 -5 II.75 0.2 5.V 6.II 55 136 194 C0 155.16 83.67 Deleterious 0.03 II.86 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.566 . @ . . . . . 1 0.722 . . 69.0 . . . . . . . . . . 0.7595 0.758 0.759 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.606 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.724 . . 0.733 . . . 0.776 0.465 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.783 . . 0 0 0 0 0 0 . 0.615 . . 0.604 . . . . . . 0 0.599 . . . . . 0.976 . 0.615 . HET 0.01 . . . . . . . . . . . . . 20.0572 . . V.63 V.63 . 0.020000 Q96FK6 . . Name\x3ddgv137n21 . . 0.701 . . V.63 . . . . . . . . . 0.0032 0.0030 0.0054 0 0.0074 0.0044 0.0021 0.0011 . . 0.730 . 2.826 2.826000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.476 0.993 . 0.665 . 0.490 2.826 0.871 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066398 G C - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066398 64066398 Chr14(GRCh37):g.64066398G>C 263 263 NM_001008726.2:c.263C>G p.Ala88Gly p.Ala88Gly 4 294 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs918064794 no no 0 G 0.000000 0 0.002918 0.003174 0.004054 0.000000 0.007422 0.000000 0.002232 0.003488 0.002137 0.007422 85 26 3 0 11 0 32 11 2 29134 8192 740 292 1482 0 14338 3154 936 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 26 3 0 11 0 32 11 2 0 0 0 0 0 0 0 0 0 RF 54 Genomes COSM5764223 Large intestine 0.000448 2231 transversion C G C>G 1.000 2.950 A Ala GCA 0.226 G Gly GGA 0.246 88 12 9 Baker's yeast 0 0 0 0 0.74 8.I 9 31 3 60 C0 103.39 0.00 Tolerated 0.4 II.86 255 PASS . . . . . . . . . . . . . . . . 0.33802816 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.280 . @ . . . . . 1 0.519 . . 71.0 . . . . . . . . . . -0.1364 0.095 -0.136 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.512 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . . . . . . 37 . 0.356 . . 0.212 . . . 0.357 0.447 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.146 . . 0 0 0 0 0 0 . 0.197 . . 0.198 . . . . . . 0 0.181 . . . . . 0.976 . 0.444 . HET 0.25 . . . . . . . . . . . . . 20.0572 . . V.63 V.63 . 0.790000 Q96FK6 . . Name\x3ddgv137n21 . . 0.642 . . V.63 . . . . . . . . . 0.0032 0.0029 0.0041 0 0.0074 0.0035 0.0022 0.0021 . . 0.730 . 2.826 2.826000 . . 0.790000 . . 1.0E-255 1.000 0.715 . 0.486 0.988 . 0.544 . 0.713 2.826 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066402 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066402 64066402 Chr14(GRCh37):g.64066402A>G 259 259 NM_001008726.2:c.259T>C p.Ser87Pro p.Ser87Pro 4 290 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs940317302 no no 0 A 0.000000 0 0.002439 0.002446 0.004054 0.000000 0.008054 0.000000 0.001745 0.003175 0.001073 0.008054 71 20 3 0 12 0 25 10 1 29108 8178 740 292 1490 0 14326 3150 932 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 20 3 0 12 0 25 10 1 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition T C T>C 1.000 4.806 S Ser TCA 0.148 P Pro CCA 0.274 87 12 11 Baker's yeast -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 123.47 0.00 Tolerated 0.09 II.86 255 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.756 . @ . . . . . 1 0.966 . . 72.0 . . . . . . . . . . 0.9601 0.875 0.960 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.726 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.888 . . 0.924 . . . 0.976 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.641 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.614 . . . . . 0.813 . 0.986 . HET 0 . . . . . . . . . . . . . 16.1485 . . V.63 V.63 . 0.000000 Q96FK6 . . Name\x3ddgv137n21 . . 0.899 . . V.63 . . . . . . . . . 0.0024 0.0024 0.0041 0 0.0081 0.0032 0.0017 0.0011 . . 0.730 . 2.281 2.281000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.483 0.970 . 0.735 . 0.960 2.281 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs200323309 14 64066424 T C - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066424 64066424 Chr14(GRCh37):g.64066424T>C 237 237 NM_001008726.2:c.237A>G p.Ala79= p.Ala79Ala 4 268 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 Cryptic Acceptor Weakly Activated 64066409 4.73473 0.008871 75.2405 4.89506 0.016369 75.2405 WD40 repeat WD40-repeat-containing domain rs200323309 no no 0 T 0.000000 0 0.001668 0.001936 0.002681 0.000000 0.004011 0.000000 0.001040 0.003111 0.000000 0.004011 49 16 2 0 6 0 15 10 0 29372 8264 746 292 1496 0 14426 3214 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 16 2 0 6 0 15 10 0 0 0 0 0 0 0 0 0 0 RF 53 Genomes COSM5764347|COSM5764347 Liver|Large intestine 0.001265|0.000448 2371|2231 transition A G A>G 0.976 -0.198 A Ala GCA 0.226 A Ala GCG 0.107 79 252 PASS . . . . . . . . . . . . . . . . 0.31506848 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . 1.0528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.31 182 ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200323309 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0.0019 0.0017 0.0027 0 0.0040 0.0031 0.0010 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . 0.011 . . rs200323309 rs200323309 1 1538 10 1/0 0,255,255 +rs75569502 14 64066431 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066431 64066431 Chr14(GRCh37):g.64066431C>T 230 230 NM_001008726.2:c.230G>A p.Arg77Lys p.Arg77Lys 4 261 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs75569502 no no 0 C 0.000000 0 0.001599 0.002174 0.002681 0.000000 0.004667 0.000000 0.000694 0.002800 0.001064 0.004667 47 18 2 0 7 0 10 9 1 29390 8280 746 292 1500 0 14418 3214 940 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 18 2 0 7 0 10 9 1 0 0 0 0 0 0 0 0 0 RF 52 Genomes COSM5764199|COSM5764199 Liver|Large intestine 0.001265|0.000448 2371|2231 transition G A G>A 0.000 -0.521 R Arg AGA 0.205 K Lys AAA 0.425 77 12 6 Fruitfly 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 160.73 0.00 Tolerated 0.96 II.86 250 PASS . . . . . . . . . . . . . . . . 0.30882353 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.108 . . 68.0 . . . . . . . . . . -1.4293 -1.338 -1.429 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.592 . . exonic exonic exonic . . 0.032 @ . . . 0.57 0.28 182 ENSG00000140006 WDR89 WDR89 . . . 0.992 0.325 . . . . . . . Uncertain_significance . 0 . 0.128 . . . . T 0.192 0.007 . . 37 . 0.276 . . 0.381 . . . 0.131 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.033 . . . . . 0.357 . 0.320 . HET 1 rs75569502 0.011 0.007 . . . . . . . . . . 9.1087 . . V.63 -4.53 . 1.000000 Q96FK6 . . Name\x3ddgv137n21 . . 0.121 . . . . . . . . . . . . 0.0022 0.0016 0.0027 0 0.0047 0.0028 0.0007 0.0011 . . 0.730 . -0.628 -0.628000 . . 1.000000 . . 1.0E-250 0.002 0.151 . 0.230 0.984 . 0.160 . 0.003 -0.628 -0.275 0.011 . . rs75569502 rs75569502 1 1538 10 1/0 0,255,255 +rs779248521 14 64066451 A G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066451 64066451 Chr14(GRCh37):g.64066451A>G 210 210 NM_001008726.2:c.210T>C p.Pro70= p.Pro70Pro 4 241 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs779248521 yes no Frequency 1 A 0.000000 0 0.000120 0.000296 0.000029 0.000000 0.000107 0.000325 0.000048 0.000273 0.000000 0.000325 33 7 1 0 2 10 6 7 0 275980 23672 34364 10142 18764 30782 126212 25616 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 7 1 0 2 10 6 7 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5346214|COSM5346214 Urinary tract|Liver 0.001488|0.000422 672|2371 transition T C T>C 0.976 -0.037 P Pro CCT 0.283 P Pro CCC 0.328 70 251 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . I.90 . . . . . . . . 4.736e-05 . . . 0 6.638e-05 0 0 0 0 0 0.0004 0 5.666e-05 0 0 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779248521 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . 0 4.062e-05 0 0 0 0 0 0 0.0003 0.0008 0.0008 0.0013 0 0.0013 0.0021 0.0004 0 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs74383752 14 64066453 G A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution missense exon GRCh37 64066453 64066453 Chr14(GRCh37):g.64066453G>A 208 208 NM_001008726.2:c.208C>T p.Pro70Ser p.Pro70Ser 4 239 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs74383752 no no 0 G 0.000000 0 0.000637 0.000715 0.001276 0.000000 0.001318 0.000000 0.000206 0.002101 0.000000 0.002101 19 6 1 0 2 0 3 7 0 29846 8388 784 294 1518 0 14578 3332 952 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 6 1 0 2 0 3 7 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes COSM5346522 Urinary tract 0.001488 672 transition C T C>T 0.953 1.900 P Pro CCT 0.283 S Ser TCT 0.185 70 12 9 Fruitfly -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 93.73 34.34 Tolerated 0.15 II.86 242 PASS . . . . . . . . . . . . . . . . 0.28125 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.389 . . 64.0 . . . . . . . . . . -0.0853 0.115 -0.085 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.577 . . exonic exonic exonic . . 0.861 @ . . . 0.62 0.36 182 ENSG00000140006 WDR89 WDR89 . . . 1.000 0.424 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.242 0.009 . . 37 . 0.320 . . 0.201 . . . 0.051 0.467 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.351 . . 0.340 . . . . . . 0 0.416 . . . . . 0.862 . 0.228 . HET 0.18 rs74383752 . . . . . . . . . . . . 16.9959 . . V.63 V.63 . 0.750000 Q96FK6 . . Name\x3ddgv137n21 . . 0.579 . . V.63 . . . . . . . . . 0.0007 0.0006 0.0013 0 0.0013 0.0021 0.0002 0 . . 0.465 . 2.826 2.826000 . . 0.750000 . . 1.0E-242 0.988 0.363 . 0.315 0.666 . 0.449 . 0.713 2.826 0.917 . . . rs74383752 rs74383752 1 1538 10 1/0 0,255,255 +rs200681506 14 64066471 G A - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution stop gain exon GRCh37 64066471 64066471 Chr14(GRCh37):g.64066471G>A 190 190 NM_001008726.2:c.190C>T p.Arg64* p.Arg64* 4 221 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs200681506 yes no Frequency 1 G 0.000000 0 0.000022 0.000084 0.000000 0.000000 0.000000 0.000065 0.000000 0.000078 0.000000 0.000084 6 2 0 0 0 2 0 2 0 276262 23770 34380 10140 18802 30780 126276 25686 6428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 2.869 R Arg CGA 0.110 * * TGA 0.489 64 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.846 . . 44.0 . . . . . . . . . . 0.9093 0.758 0.909 c . . . . . 1.579e-05 . . . 0 2.217e-05 0 0 0 0 0 0.0001 0 1.891e-05 0 0 0 0 0 0.0001 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.584 @ . . . 0.62 0.37 182 ENSG00000140006 WDR89 WDR89 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . 0.441 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.841 . . . LowAF 1 rs200681506 . . . . . . . . . . . . 16.5263 . . V.63 IV.69 . 0.480000 . . . Name\x3ddgv137n21 . . 0.616 . . IV.69 0 8.128e-06 0 0 0 0 0 0 6.498e-05 0.0002 0.0001 0 0 0 0.0006 0 0 . . 0.730 . 2.826 2.826000 . . 0.480000 . . 1.0E-190 1.000 0.715 . 0.170 0.122 . 0.482 . 0.093 2.826 -0.665 . . . rs200681506 rs200681506 1 1538 10 1/0 0,255,255 +rs774708081 14 64066472 T G - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066472 64066472 Chr14(GRCh37):g.64066472T>G 189 189 NM_001008726.2:c.189A>C p.Leu63= p.Leu63Leu 4 220 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs774708081 yes no Frequency 1 T 0.000000 0 0.000099 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000588 0.000000 0.000588 3 1 0 0 0 0 0 2 0 30254 8510 804 298 1556 0 14722 3404 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion A C A>C 0.835 0.044 L Leu CTA 0.070 L Leu CTC 0.197 63 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . 0.9221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0.0001 9.916e-05 0 0 0 0.0006 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 64066484 C T - WDR89 20489 WD repeat domain 89 NM_001008726.2 -1 3270 1164 NP_001008726.1 Q96FK6 substitution synonymous exon GRCh37 64066484 64066484 Chr14(GRCh37):g.64066484C>T 177 177 NM_001008726.2:c.177G>A p.Arg59= p.Arg59Arg 4 208 3' 94.4042 6.45888 0.980546 5.73086 94.4042 6.45888 0.980546 5.73086 0 WD40 repeat WD40-repeat-containing domain rs1040237509 no no 0 C 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000292 0.000000 0.000292 1 0 0 0 0 0 0 1 0 30382 8542 808 300 1564 0 14786 3422 960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.220 -1.328 R Arg AGG 0.207 R Arg AGA 0.205 59 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.6929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140006 WDR89 WDR89 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv137n21 . . . . . . . . . . . . . . . 0 3.291e-05 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs376507352 14 64518339 G A - SYNE2 17084 Spectrin repeat containing, nuclear envelope 2 NM_182914.2 1 21877 20724 NP_878918.2 substitution missense exon GRCh37 64518339 64518339 Chr14(GRCh37):g.64518339G>A 7708 7708 NM_182914.2:c.7708G>A p.Glu2570Lys p.Glu2570Lys 48 608442 65 3' 88.3814 8.05477 0.989863 4.10049 88.3814 8.05477 0.989863 3.96105 0 rs376507352 yes no Frequency 1 G 0.000000 0 0.000217 0.000083 0.000087 0.000000 0.000000 0.000000 0.000419 0.000039 0.000155 0.000419 60 2 3 0 0 0 53 1 1 276742 23988 34350 10144 18846 30772 126426 25770 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 2 3 0 0 0 53 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8146 3600 11746 6 0 6 0.000736016 0 0.000510551 0.000736016 0 0.000510551 47 transition G A G>A 1.000 2.465 E Glu GAG 0.583 K Lys AAG 0.575 2570 12 5 Chicken 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.05 III.32 good 2.122E-2 0.0002265 255 PASS . . . . . . . . . . . . . . . . 0.5686275 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.544 . @ . . . . . 1 0.748 . . 51.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . 0.1169 0.166 0.117 c . . . . . 2.317e-04 . . . 0.0001 0.0002 0 0 0 0.0005 0 0 0.0001 0.0002 0 0 0.0002 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.573 . . exonic exonic exonic . . 0.658 @ . . . 0.81 0.53 182 ENSG00000054654 SYNE2 SYNE2 . . . 0.998 0.370 . 8 0.000123122 64976 8 0.000133364 59986 Uncertain_significance . 0 . 0.447 . . . . D 0.617 0.045 . . 37 . 0.465 . . 0.321 . . . 0.651 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.420 . . 0 0 0 0 0 0 . 0.512 . . 0.477 . . . . . . 1 0.247 . . . . . 0.718 . 0.488 . HET 0.53 rs376507352 . . . . . . . . . . . . 15.0924 0.0 . 5.IX IV.99 . 0.600000 . . . . 0.000511 . 0.634 . . IV.99 6.556e-05 0.0002 8.952e-05 0 0 4.487e-05 0.0004 0.0002 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . 0.730 . 1.455 1.455000 . . 0.600000 . . 1.0E-255 1.000 0.715 . 0.294 0.524 . 0.620 . 0.188 1.455 -0.030 0.0007 . . rs376507352 rs376507352 1 1538 10 1/0 0,255,255 +rs149186357 14 65252552 G A - MIR7855 50244 MicroRNA 7855 NR_107009.1 -1 61 0 substitution upstream GRCh37 65252552 65252552 Chr14(GRCh37):g.65252552G>A -148 -148 NR_107009.1:n.-148C>T p.? p.? 1 rs149186357 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001768 0.000083 0.000029 0.001773 0.000000 0.000000 0.002480 0.005350 0.002631 0.005350 490 2 1 18 0 0 314 138 17 277100 24002 34414 10152 18868 30782 126628 25792 6462 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000310 4 0 0 0 0 0 2 1 1 482 2 1 18 0 0 310 136 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4406 12992 14 0 14 0.00162791 0 0.00107643 0.00162791 0 0.00107643 195 transition C T C>T 1.000 0.851 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.44247788 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.498 . @ . . . . . 1 0.773 . . 113.0 . . . . 0.0011 0.0016 . 0.0011 0.0016 . -0.3450 -0.226 -0.345 c . . . . . 1.989e-03 . . . 9.632e-05 0.0011 0 0 0.0060 0.0018 0.0028 0 0.0001 0.0019 0 0 0.0051 0.0030 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.491 . . exonic exonic exonic . . 0.334 0.0006 . . . 0.47 0.36 182 ENSG00000070182 SPTB SPTB . . . 0.654 0.222 . 80 0.00123122 64976 77 0.00128363 59986 Benign . 0 . 0.366 . . . . T 0.258 0.010 . . 37 . 0.288 . . 0.370 . . . 0.281 0.341 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.182 . . 0.227 . . . . . . 0 0.586 . . . . . 0.063 . 0.756 . HET 0.02 rs149186357 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 III.57 0.0 . IV.94 II.98 . 0.010000 . . . Name\x3desv2748779 0.001076 . 0.222 . . II.98 6.535e-05 0.0017 2.978e-05 0.0018 0 0.0053 0.0023 0.0024 0 0.0001 0.0025 0 0 0 0.0054 0.0035 0.0041 . . 0.372 . 2.451 2.451000 . . 0.010000 . . 1.0E-255 0.034 0.205 . 0.888 0.994 . 0.306 . 0.645 2.451 -0.045 0.004 . . rs149186357 rs149186357 1 1538 10 1/0 0,254,255 +rs149186357 14 65252552 G A - SPTB 11274 Spectrin beta, erythrocytic NM_001024858.3 -1 10296 6987 NP_001020029.1 substitution missense exon GRCh37 65252552 65252552 Chr14(GRCh37):g.65252552G>A 3679 3679 NM_001024858.3:c.3679C>T p.Pro1227Ser p.Pro1227Ser 16 182870 -86 5' 71.0434 7.04051 0.921284 7.66472 71.0434 7.04051 0.921284 7.66472 0 Spectrin repeat Spectrin/alpha-actinin Spectrin, beta subunit rs149186357 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001768 0.000083 0.000029 0.001773 0.000000 0.000000 0.002480 0.005350 0.002631 0.005350 490 2 1 18 0 0 314 138 17 277100 24002 34414 10152 18868 30782 126628 25792 6462 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000310 4 0 0 0 0 0 2 1 1 482 2 1 18 0 0 310 136 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4406 12992 14 0 14 0.00162791 0 0.00107643 0.00162791 0 0.00107643 195 CM971416 Spherocytosis 9207476 DM transition C T C>T 1.000 0.851 P Pro CCT 0.283 S Ser TCT 0.185 1227 12 7 Dog -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 85.32 49.72 Tolerated 0.32 III.66 255 PASS . 0.0014 . . 0.004 . 0.0006 . . 0.003 . . . . . . 0.44247788 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.498 . @ . . . . . 1 0.773 . . 113.0 . . . . 0.0011 0.0016 . 0.0011 0.0016 . -0.3450 -0.226 -0.345 c . . . . . 1.989e-03 . . . 9.632e-05 0.0011 0 0 0.0060 0.0018 0.0028 0 0.0001 0.0019 0 0 0.0051 0.0030 0.0014 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.491 . . exonic exonic exonic . . 0.334 0.0006 . . . 0.47 0.36 182 ENSG00000070182 SPTB SPTB . . . 0.654 0.222 . 80 0.00123122 64976 77 0.00128363 59986 Benign . 0 . 0.366 . . . . T 0.258 0.010 . . 37 . 0.288 . . 0.370 . . . 0.281 0.341 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.191 . . 0 0 0 0 0 0 . 0.182 . . 0.227 . . . . . . 0 0.586 . . . . . 0.063 . 0.756 . HET 0.02 rs149186357 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 III.57 0.0 . IV.94 II.98 . 0.010000 . . . Name\x3desv2748779 0.001076 . 0.222 . . II.98 6.535e-05 0.0017 2.978e-05 0.0018 0 0.0053 0.0023 0.0024 0 0.0001 0.0025 0 0 0 0.0054 0.0035 0.0041 . . 0.372 . 2.451 2.451000 . . 0.010000 . . 1.0E-255 0.034 0.205 . 0.888 0.994 . 0.306 . 0.645 2.451 -0.045 0.004 . . rs149186357 rs149186357 1 1538 10 1/0 0,254,255 +rs563162195 14 65470859 A G - CHURC1-FNTB 42960 CHURC1-FNTB readthrough NM_001202559.1 1 2894 1497 NP_001189488.1 substitution intron GRCh37 65470859 65470859 Chr14(GRCh37):g.65470859A>G 328-108 328-108 NM_001202559.1:c.328-108A>G p.? p.? 4 3 -108 3' 83.8712 7.75785 0.8704 5.76911 83.8712 7.75785 0.8704 5.76911 0 rs563162195 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002131 0.000115 0.000000 0.000000 0.000000 0.000000 0.003397 0.002862 0.004082 0.003397 66 1 0 0 0 0 51 10 4 30978 8730 838 302 1620 0 15014 3494 980 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.019608 0.000000 0.000000 1 0 0 0 0 0 1 0 0 64 1 0 0 0 0 49 10 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -0.279 229 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.24193548 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . 0.1012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 65 0.00100037 64976 64 0.00106692 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs563162195 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2748779 . . . . . . . . . . . . . . . 0.0001 0.0021 0 0 0 0.0029 0.0034 0.0041 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs563162195 14 65470859 A G - FNTB 3785 Farnesyltransferase, CAAX box, beta NM_002028.3 1 2819 1314 NP_002019.1 P49356 substitution intron GRCh37 65470859 65470859 Chr14(GRCh37):g.65470859A>G 145-108 145-108 NM_002028.3:c.145-108A>G p.? p.? 2 1 134636 -108 3' 83.8712 7.75785 0.8704 5.76911 83.8712 7.75785 0.8704 5.76911 0 rs563162195 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002131 0.000115 0.000000 0.000000 0.000000 0.000000 0.003397 0.002862 0.004082 0.003397 66 1 0 0 0 0 51 10 4 30978 8730 838 302 1620 0 15014 3494 980 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.019608 0.000000 0.000000 1 0 0 0 0 0 1 0 0 64 1 0 0 0 0 49 10 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -0.279 229 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.24193548 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . 0.1012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 65 0.00100037 64976 64 0.00106692 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs563162195 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2748779 . . . . . . . . . . . . . . . 0.0001 0.0021 0 0 0 0.0029 0.0034 0.0041 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs563162195 14 65470859 A G - MAX 6913 MYC associated factor X NM_002382.4 -1 2040 483 NP_002373.3 P61244 substitution downstream GRCh37 65470859 65470859 Chr14(GRCh37):g.65470859A>G *72335 *72335 NM_002382.4:c.*72335T>C p.? p.? 5 154950 72523 3' 77.288 7.81083 0.926467 6.36397 77.288 7.81083 0.926467 6.36397 0 Cryptic Donor Strongly Activated 65470863 5.52661 0.083831 72.1684 VI.83 0.226763 71.5568 rs563162195 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002131 0.000115 0.000000 0.000000 0.000000 0.000000 0.003397 0.002862 0.004082 0.003397 66 1 0 0 0 0 51 10 4 30978 8730 838 302 1620 0 15014 3494 980 0.015152 0.000000 0.000000 0.000000 0.000000 0.000000 0.019608 0.000000 0.000000 1 0 0 0 0 0 1 0 0 64 1 0 0 0 0 49 10 4 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition T C T>C 0.000 -0.279 229 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.24193548 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . 0.1012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . . . . . . . . . . 65 0.00100037 64976 64 0.00106692 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs563162195 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2748779 . . . . . . . . . . . . . . . 0.0001 0.0021 0 0 0 0.0029 0.0034 0.0041 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs540237947 14 68045562 G A - PLEKHH1 17733 Pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 NM_020715.2 1 6540 4095 NP_065766.1 Q9ULM0 substitution intron GRCh37 68045562 68045562 Chr14(GRCh37):g.68045562G>A 2849+214 2849+214 NM_020715.2:c.2849+214G>A p.? p.? 20 20 214 5' 95.6376 X.36 0.995241 X.55 95.6376 X.36 0.995241 X.55 0 New Acceptor Site 68045564 8.38031 0.635722 77.6741 rs540237947 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000452 0.000229 0.001193 0.003311 0.000000 0.000000 0.000667 0.000000 0.000000 0.003311 14 2 1 1 0 0 10 0 0 30956 8726 838 302 1620 0 14998 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 2 1 1 0 0 10 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 0.367 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.46268657 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . INTRON(MODIFIER||||PLEKHH1|mRNA|CODING|NM_020715|) . . . . . . . 0.3452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000054690 PLEKHH1 PLEKHH1 . . . . . . 16 0.000246245 64976 15 0.000250058 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs540237947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0005 0.0012 0.0033 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs66798921 14 68191112 T G - RDH12 19977 Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) NM_152443.2 1 1878 951 NP_689656.2 Q96NR8 substitution intron GRCh37 68191112 68191112 Chr14(GRCh37):g.68191112T>G 69-78 69-78 NM_152443.2:c.69-78T>G p.? p.? 4 3 608830 -78 3' 78.2683 8.63951 0.930361 6.50217 78.2683 8.63951 0.930361 6.55983 0 rs66798921 no no 0 T 0.000000 0 transversion T G T>G 0.000 -2.135 216 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||RDH12|mRNA|CODING|NM_152443|) . . . . . . . -0.9580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.35 182 ENSG00000139988 RDH12 RDH12 . . . . . . 67 0.00103115 64976 4 6.66822e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs66798921 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.011 . . rs66798921 rs66798921 1 1538 10 1/0 0,255,255 +rs149668062 14 71570256 A G - PCNX1 19740 Pecanex homolog 1 (Drosophila) NM_014982.2 1 12919 7026 NP_055797.2 Q96RV3 substitution missense exon GRCh37 71570256 71570256 Chr14(GRCh37):g.71570256A>G 5965 5965 NM_014982.2:c.5965A>G p.Ile1989Val p.Ile1989Val 32 617655 -131 5' 89.8591 9.60237 0.989521 5.72214 89.8591 9.60237 0.989521 5.72214 0 Pecanex rs149668062 yes no Frequency 1 A 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000000 0.000000 0.000111 0.000000 0.000000 0.000111 14 0 0 0 0 0 14 0 0 277154 24026 34418 10148 18866 30782 126652 25794 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 150 transition A G A>G 1.000 4.967 I Ile ATT 0.356 V Val GTT 0.178 1989 12 10 Fruitfly 3 3 4 0 0 5.II 5.IX 111 84 29 C0 234.99 0.00 Tolerated 0.33 III.25 good 2.658E-1 0.00132 255 PASS . . . . . . . . . . . . . . . . 0.54761904 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.779 . @ . . . . . 1 0.955 . . 84.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.6472 0.669 0.647 c . . . . . 3.946e-05 . . . 0 3.306e-05 0 0 0 7.119e-05 0 0 0 3.766e-05 0 0 0 7.36e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.772 @ . . . 0.46 0.37 182 ENSG00000100731 PCNX PCNX . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.515 0.029 . . 37 . 0.520 . . 0.550 . . . 0.480 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.657 . . 0.790 . . . . . . 0 0.339 . . . . . 0.771 . 0.667 . HET 0.02 rs149668062 . . . . . . . . . . . . 15.693 0.0 . V.38 V.38 . 0.200000 . . . . 0.000154 . 0.688 . . V.38 0 4.874e-05 0 0 0 0 0.0001 0 0 0 6.459e-05 0 0 0 0 0.0001 0 . . 0.830 . 2.160 2.160000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.682 . 0.866 2.160 1.062 0.0002 . . rs149668062 rs149668062 1 1538 10 1/0 0,255,255 +rs138234941 14 72040381 G A - SIPA1L1 20284 Signal induced proliferation associated 1 like 1 NM_001354285.1 1 8034 5415 NP_001341214.1 O43166 substitution intron GRCh37 72040381 72040381 Chr14(GRCh37):g.72040381G>A -14209 -14209 NM_001354285.1:c.-302-13907G>A p.? p.? 5 4 617504 -13907 3' 87.5738 11.1873 0.994738 VII.16 87.5738 11.1873 0.994738 VII.16 0 rs138234941 yes no Frequency/1000G 2 G 0.000000 0 0.003794 0.000000 0.011200 0.000000 0.008000 0.000000 0.005765 0.001073 0.002318 0.001918 0.000000 0.012060 0.008048 0.002728 0.003481 0.012060 925 16 57 16 0 272 524 24 16 160440 14914 24586 8344 11536 22554 65112 8798 4596 0.000037 0.000000 0.000000 0.000000 0.000000 0.000177 0.000031 0.000000 0.000000 3 0 0 0 0 2 1 0 0 919 16 57 16 0 268 522 24 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.286 255 PASS . 0.0027 . . 0.01 . 0.0038 . . 0.008 0.011 . SIPA1L1:uc001xmr.1:exon4:c.G192A:p.E64E . . . 0.5531915 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.0636 . . . . . . . . 8.666e-03 . . . 0 0.0109 0 0 0 0.0067 0.0152 0.0139 0 0.0107 0 0 0 0.0033 0.0169 0.0140 . synonymous_SNV . . . . intronic exonic intronic . . . 0.0038 . . . 0.42 0.4 182 ENSG00000197555 SIPA1L1 SIPA1L1 . . . . . . 357 0.00549434 64976 338 0.00563465 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138234941 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0059 0.0022 0.0019 0 0.0030 0.0079 0.0025 0.0121 0.0009 0.0051 0.0060 0.0033 0 0.0023 0.0085 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138234941 rs138234941 1 1538 10 1/0 0,255,255 +rs201194571 14 73730639 C T - PAPLN 19262 Papilin, proteoglycan-like sulfated glycoprotein NM_173462.3 1 5834 3756 NP_775733.3 substitution intron GRCh37 73730639 73730639 Chr14(GRCh37):g.73730639C>T 2780+149 2780+149 NM_173462.3:c.2780+149C>T p.? p.? 19 19 617785 149 5' 85.557 8.56441 0.810821 9.40308 85.557 8.56441 0.810821 9.40308 0 Cryptic Acceptor Weakly Activated 73730650 X.13 0.908045 80.253 X.79 0.952586 84.3549 rs201194571 no no 0 T 0.000000 0 0.001343 0.000539 0.002667 0.000000 0.019264 0.000000 0.000322 0.000926 0.000000 0.019264 35 4 2 0 22 0 4 3 0 26056 7422 750 246 1142 0 12426 3238 832 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 34 Genomes transition C T C>T 0.000 -3.426 243 PASS . . . . . . . . . . . . . . . . 0.28 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||PAPLN|mRNA|CODING|NM_173462|) . . . . . . . -0.7758 . . . . . . . . . . . . 0 0.0007 0.0069 0.0429 . 0.0007 0 0.0001 0 0.0007 0.0078 0.0299 . 0.0004 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.2 182 ENSG00000100767 PAPLN PAPLN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201194571 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . 0.0005 0.0013 0.0027 0 0.0193 0.0009 0.0003 0 . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . rs201194571 rs201194571 1 1538 10 1/0 0,255,255 +. 14 74449980 CCT C - ENTPD5 3367 Ectonucleoside triphosphate diphosphohydrolase 5 NM_001249.3 -1 5296 1287 NP_001240.1 O75356 deletion intron GRCh37 74449981 74449982 Chr14(GRCh37):g.74449981_74449982del 298-118 298-117 NM_001249.3:c.298-118_298-117del p.? p.? 6 5 603162 -117 3' 85.3453 7.04853 0.426077 2.38516 85.3453 7.04853 0.426077 2.38516 0 New Donor Site 74449983 2.94954 0.396635 71.6602 rs71907518 yes no Frequency/1000G 2 0.000000 0 0.006190 0.000000 0.003100 0.000000 0.022900 0.007200 0.009854 0.002864 0.004773 0.006623 0.000000 0.000000 0.016607 0.004585 0.009165 0.016607 305 25 4 2 0 0 249 16 9 30952 8728 838 302 1618 0 14994 3490 982 0.006557 0.000000 0.000000 0.000000 0.000000 0.000000 0.008032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 301 25 4 2 0 0 245 16 9 0 0 0 0 0 0 0 0 0 PASS 40 Genomes AG 255 Pass . 0.01 0.01 . 0.02 . 0.0062 0.0072 . 0.023 0.0031 . . . . . 0.38235295 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . INTRON(MODIFIER||||ENTPD5|mRNA|CODING|NM_001249|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000187097 ENTPD5 ENTPD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs398057243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0029 0.0099 0.0048 0.0066 0 0.0046 0.0166 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs71907518 rs71907518 1 1538 10 1.I 0,12,42 +rs45516495 14 74756117 C T - ABCD4 68 ATP binding cassette subfamily D member 4 NM_005050.3 -1 3157 1821 NP_005041.1 O14678 substitution intron GRCh37 74756117 74756117 Chr14(GRCh37):g.74756117C>T 1456+69 1456+69 NM_005050.3:c.1456+69G>A p.? p.? 14 14 603214 69 5' 89.8591 9.60237 0.968546 3.35918 89.8591 9.60237 0.968546 3.10157 0 rs45516495 yes no Frequency/1000G 2 C 0.000000 0 0.002196 0.000000 0.002000 0.000000 0.007000 0.002900 0.002489 0.000803 0.001193 0.000000 0.000000 0.000000 0.004470 0.000287 0.001020 0.004470 77 7 1 0 0 0 67 1 1 30940 8722 838 302 1620 0 14988 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 7 1 0 0 0 67 1 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.008 0.125 255 PASS . . . . . . . . . . . . . . . . 0.47727272 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.0431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0024 . . . 0.17 0.05 182 ENSG00000258559 ABCD4 ABCD4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45516495 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv902096 . . . . . . . . . . . . . . . 0.0008 0.0025 0.0012 0 0 0.0003 0.0045 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs45516495 rs45516495 rs45516495 rs45516495 1 1538 10 1/0 0,255,255 +rs61989361 14 77273653 G T - ANGEL1 19961 Angel homolog 1 (Drosophila) NM_015305.3 -1 4111 2013 NP_056120.2 Q9UNK9 substitution intron GRCh37 77273653 77273653 Chr14(GRCh37):g.77273653G>T 946+123 946+123 NM_015305.3:c.946+123C>A p.? p.? 4 4 123 5' 69.4997 5.68445 0.152599 2.02589 69.4997 5.68445 0.152599 2.02589 0 rs61989361 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.003100 0.000000 0.017900 0.005800 0.007522 0.003320 0.007160 0.013245 0.000000 0.000000 0.011196 0.004871 0.009165 0.013245 233 29 6 4 0 0 168 17 9 30976 8736 838 302 1622 0 15006 3490 982 0.012876 0.034483 0.000000 0.000000 0.000000 0.000000 0.011905 0.000000 0.000000 3 1 0 0 0 0 2 0 0 227 27 6 4 0 0 164 17 9 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion C A C>A 0.000 0.125 255 PASS 0.01 0.02 0.02 0.01 0.02 . 0.005 0.0058 . 0.018 0.0031 . . . . . 0.4642857 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||ANGEL1|mRNA|CODING|NM_015305|) . . . . . . . 0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0050 . . . 0.52 0.05 182 ENSG00000013523 ANGEL1 ANGEL1 . . . . . . 874 0.0134511 64976 849 0.0141533 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61989361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0075 0.0072 0.0132 0 0.0049 0.0112 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs61989361 rs61989361 rs61989361 rs61989361 1 1538 10 1/0 0,255,255 +. 14 77493897 G C - IRF2BPL 14282 Interferon regulatory factor 2 binding protein-like NM_024496.3 -1 4157 2391 NP_078772.1 Q9H1B7 substitution missense exon GRCh37 77493897 77493897 Chr14(GRCh37):g.77493897G>C 239 239 NM_024496.3:c.239C>G p.Thr80Arg p.Thr80Arg 1 611720 "Interferon regulatory factor 2-binding protein 1 & 2, zinc finger" transversion C G C>G 0.992 2.627 T Thr ACA 0.280 R Arg AGA 0.205 80 11 6 Cow -1 -1 -2 0.71 0.65 8.VI 10.V 61 124 71 C0 353.86 0.00 Tolerated 0.08 IV.32 good 9.314E-2 0.2047 255 PASS . . . . . . . . . . . ENSG00000119669:ENST00000238647:exon1:c.C239G:p.T80R IRF2BPL:uc001xsy.4:exon1:c.C239G:p.T80R IRF2BPL:NM_024496:exon1:c.C239G:p.T80R . . 0.5625 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.182 . @ . . . . . 1 0.207 . . 32.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T80R|IRF2BPL|mRNA|CODING|NM_024496|NM_024496.ex.1) . . . . . . . -0.0227 0.047 -0.023 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.402 . . exonic exonic exonic . . 0.395 @ . . . . . . ENSG00000119669 IRF2BPL IRF2BPL . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.238 . . . . D 0.785 0.108 . . 37 . 0.230 . . 0.065 . . . 0.225 0.299 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.112 . . 0 0 0 0 0 0 . 0.548 . . 0.428 . . . . . . 0 0.280 . . . . . 0.603 . 0.385 . HET 0.17 . . . . . . . . . . . . . 13.4212 . ENST00000238647 III.54 III.54 . 0.560000 Q9H1B7 . . Name\x3dnsv902103 . . 0.339 . . III.54 . . . . . . . . . . . . . . . . . . . 0.034 . 1.977 1.977000 . . 0.560000 . . 1.0E-255 0.997 0.399 . 0.471 0.993 . 0.525 . 0.304 1.977 0.493 . . . . . 1 1538 10 1/0 0,255,255 +rs200148812 14 77901758 G A - VIPAS39 20347 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog NM_001193314.1 -1 2969 1482 NP_001180243.1 Q9H9C1 substitution intron GRCh37 77901758 77901758 Chr14(GRCh37):g.77901758G>A 913-22 913-22 NM_001193314.1:c.913-22C>T p.? p.? 14 13 613401 -22 3' 81.7651 6.82565 0.131983 8.46567 81.7651 6.82565 0.131983 8.20658 0 77901757 -6.59893 rs200148812 no no 0 G 0.000000 0 0.001161 0.000704 0.006608 0.003937 0.000687 0.000000 0.000511 0.012821 0.000000 0.012821 26 5 3 1 1 0 6 10 0 22386 7104 454 254 1456 0 11732 780 606 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 0 1 2 2 0 0 0 0 0 0 0 0 0 PASS 35 Genomes transition C T C>T 0.000 -0.279 216 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.0966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.18 182 ENSG00000151445 VIPAS39 VIPAS39 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200148812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0012 0.0066 0.0039 0.0007 0.0128 0.0005 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs200148812 rs200148812 1 1538 10 1.I 0,0,0 +. 14 81676360 C CTA - GTF2A1 4646 General transcription factor IIA, 1, 19/37kDa NM_015859.3 -1 6336 1131 NP_056943.1 P52655 insertion intron GRCh37 81676360 81676361 Chr14(GRCh37):g.81676360_81676361insTA 133-5913 133-5912 NM_015859.3:c.133-5913_133-5912insTA p.? p.? 3 2 600520 -5912 3' 77.5276 7.60956 0.98001 3.88079 77.5276 7.60956 0.98001 3.88079 0 TA 255 Pass . . . . . . . . . . . . . . . . 0.94736844 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 19 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000165417 GTF2A1 GTF2A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,128,255 +rs201778582 14 81676361 A C - GTF2A1 4646 General transcription factor IIA, 1, 19/37kDa NM_015859.3 -1 6336 1131 NP_056943.1 P52655 substitution intron GRCh37 81676361 81676361 Chr14(GRCh37):g.81676361A>C 133-5913 133-5913 NM_015859.3:c.133-5913T>G p.? p.? 3 2 600520 -5913 3' 77.5276 7.60956 0.98001 3.88079 77.5276 7.60956 0.98001 3.88079 0 transversion T G T>G 0.039 1.658 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . . . . . . . . . 0.3043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.25 182 ENSG00000165417 GTF2A1 GTF2A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +. 14 81676370 CTTTATCATACAGAATGGTCCCACAAGAAATA C - GTF2A1 4646 General transcription factor IIA, 1, 19/37kDa NM_015859.3 -1 6336 1131 NP_056943.1 P52655 deletion intron GRCh37 81676371 81676401 Chr14(GRCh37):g.81676371_81676401del 133-5953 133-5923 NM_015859.3:c.133-5953_133-5923del p.? p.? 3 2 600520 -5923 3' 77.5276 7.60956 0.98001 3.88079 77.5276 7.60956 0.98001 3.88079 0 Cryptic Acceptor Strongly Activated 81676369 1.41041 0.000908 70.2559 6.03716 0.30082 81.3374 TATTTCTTGTGGGACCATTCTGTATGATAAA 255 Pass . . . . . . . . . . . . . . . . 0.94736844 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 19 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000165417 GTF2A1 GTF2A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,128,255 +. 14 81676402 T G - GTF2A1 4646 General transcription factor IIA, 1, 19/37kDa NM_015859.3 -1 6336 1131 NP_056943.1 P52655 substitution intron GRCh37 81676402 81676402 Chr14(GRCh37):g.81676402T>G 133-5954 133-5954 NM_015859.3:c.133-5954A>C p.? p.? 3 2 600520 -5954 3' 77.5276 7.60956 0.98001 3.88079 77.5276 7.60956 0.98001 3.88079 0 transversion A C A>C 0.012 0.367 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.0934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000165417 GTF2A1 GTF2A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs149777495 14 88962793 G A - PTPN21 9651 Protein tyrosine phosphatase, non-receptor type 21 NM_007039.3 -1 6215 3525 NP_008970.2 Q16825 substitution missense exon GRCh37 88962793 88962793 Chr14(GRCh37):g.88962793G>A 896 896 NM_007039.3:c.896C>T p.Ala299Val p.Ala299Val 10 603271 -37 5' 78.4708 7.52484 0.949875 2.53636 78.4708 7.52484 0.949875 I.59 0 FERM, C-terminal PH-like domain FERM domain Protein-tyrosine phosphatase, non-receptor type-14, -21 rs149777495 yes no Frequency 1 G 0.000000 0 0.000123 0.000000 0.000000 0.000000 0.000000 0.000000 0.000245 0.000116 0.000000 0.000245 34 0 0 0 0 0 31 3 0 277004 24034 34402 10148 18866 30774 126552 25770 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 0 0 0 0 0 31 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 123 transition C T C>T 0.992 4.483 A Ala GCG 0.107 V Val GTG 0.468 299 11 9 Chicken 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 bad 8.12E-6 2.111E-5 255 PASS . . . . . . . . . . . . . PTPN21:NM_007039:exon10:c.C896T:p.A299V . . 0.5263158 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.677 . @ . . . . . 1 0.972 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A299V|PTPN21|mRNA|CODING|NM_007039|NM_007039.ex.10) . 0.0003 0.0005 . 0.0003 0.0005 . 0.6598 0.609 0.660 c . . . . . 1.421e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 6.593e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.830 . . exonic exonic exonic . . 0.555 @ . . . 0.43 0.44 182 ENSG00000070778 PTPN21 PTPN21 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.791 0.112 . . 37 . 0.884 . . 0.883 . . . 0.769 0.448 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.340 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.220 . . . . . 0.870 . 0.804 . HET 0.52 rs149777495 . . . . . . . . . . . . 17.3076 0.0 . IV.56 IV.56 . 0.130000 Q16825 . . Name\x3dnsv456391 0.000308 . 0.827 . . IV.56 0 0.0001 0 0 0 4.489e-05 0.0003 0 0 0 0.0002 0 0 0 0.0006 0.0002 0 . . 0.830 . 2.242 2.242000 . . 0.130000 . . 1.0E-255 1.000 0.715 . 0.544 0.996 . 0.915 . 0.713 2.242 0.917 0.0005 . . rs149777495 rs149777495 1 1538 10 1/0 0,255,255 +rs117705365 14 91068403 G A - TTC7B 19858 Tetratricopeptide repeat domain 7B NM_001010854.1 -1 3434 2532 NP_001010854.1 Q86TV6 substitution intron GRCh37 91068403 91068403 Chr14(GRCh37):g.91068403G>A 1967-8433 1967-8433 NM_001010854.1:c.1967-8433C>T p.? p.? 18 17 -8433 3' 75.5091 4.77558 0.391224 3.98067 75.5091 4.77558 0.391224 3.98067 0 rs117705365 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.001840 0.000573 0.001193 0.000000 0.000000 0.000000 0.003265 0.000000 0.002037 0.003265 57 5 1 0 0 0 49 0 2 30974 8730 838 302 1620 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 57 5 1 0 0 0 49 0 2 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.028 0.044 255 PASS . 0.0018 0.01 . 0.0026 . 0.001 0.0043 . 0.002 . . . . . . 0.39534885 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||TTC7B|mRNA|CODING|NM_001010854|) . . . . . . . 0.0943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . 0.0010 . . . 0.56 0.64 182 ENSG00000165914 TTC7B TTC7B ENST00000555005:c.*77C>T . . . . . 181 0.00278564 64976 176 0.00293402 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117705365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0018 0.0012 0 0 0 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117705365 rs117705365 1 1538 10 1/0 0,255,255 +rs374046666 14 91805815 G A - CCDC88C 19967 Coiled-coil domain containing 88C NM_001080414.3 -1 7543 6087 NP_001073883.2 Q9P219 substitution intron GRCh37 91805815 91805815 Chr14(GRCh37):g.91805815G>A 625-9 625-9 NM_001080414.3:c.625-9C>T p.? p.? 8 7 611204 -9 3' 73.273 8.08651 0.71697 7.08858 75.9848 8.83835 0.795809 7.62674 0.0799819 Cryptic Acceptor Strongly Activated 91805806 8.08651 0.71697 73.273 8.83835 0.795809 75.9848 rs374046666 yes no Frequency 1 G 0.000000 0 0.000039 0.000000 0.000000 0.000000 0.000060 0.000000 0.000077 0.000000 0.000000 0.000077 9 0 0 0 1 0 8 0 0 232660 14388 32666 9308 16802 29264 104436 20554 5242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 0 1 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes 8490 4236 12726 4 0 4 0.000470921 0 0.000314218 0.000470921 0 0.000314218 41 transition C T C>T 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.48076922 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||CCDC88C|mRNA|CODING|NM_001080414|) . 0.0003 0.0005 . 0.0003 0.0005 . 0.1781 . . . . . . . . 4.766e-05 . . . 0 8.609e-05 0 0 0 0.0002 0 0 0 6.189e-05 0 0 0 0.0001 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.1 182 ENSG00000015133 CCDC88C CCDC88C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374046666 . . . . . . . . . . . . . . . . . . . . 0 0 Name\x3dnsv817642 0.000314 . . . . . 0 3.868e-05 0 0 5.952e-05 0 7.66e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs374046666 rs374046666 1 1538 10 1/0 0,255,255 +. 14 93282872 T TCTTCGCTTCGCTTCG - GOLGA5 4428 Golgin A5 NM_005113.3 1 2969 2196 NP_005104.3 Q8TBA6 duplication intron GRCh37 93282891 93282892 Chr14(GRCh37):g.93282877_93282891dup 1491+111 1491+125 NM_005113.3:c.1491+111_1491+125dup p.? p.? 7 7 606918 125 5' 94.6711 X.63 0.993062 7.96998 94.6711 X.63 0.993062 7.96998 0 0.006693 0.001048 0.001217 0.000000 0.001267 0.000000 0.006838 0.022793 0.012448 0.022793 204 9 1 0 2 0 101 79 12 30480 8584 822 296 1578 0 14770 3466 964 0.004902 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.012658 0.000000 1 0 0 0 0 0 0 1 0 55 55 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes GCTTCGCTTCGCTTC 255 Pass . . . . . . . . . . . . . . . . 0.3 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 40 . . INTRON(MODIFIER||||GOLGA5|mRNA|CODING|NM_005113|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000066455 GOLGA5 GOLGA5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv522417 . . . . . . . . . . . . . . . 0.0010 0.0067 0.0012 0 0.0013 0.0228 0.0068 0.0124 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,52 +rs148334181 14 95109890 T A - SERPINA13P 30909 Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene NR_015340.1 1 1718 0 substitution exon GRCh37 95109890 95109890 Chr14(GRCh37):g.95109890T>A 927 927 NR_015340.1:n.927T>A 3 85 3' 80.4717 9.55417 0.924331 9.68258 80.4717 9.55417 0.924331 9.68258 0 New Acceptor Site 95109892 0.977692 0.00029 62.2031 rs148334181 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000399 0.000084 0.000437 0.000099 0.000000 0.000000 0.000667 0.000062 0.000472 0.000667 106 2 15 1 0 0 84 1 3 265818 23700 34322 10108 18662 30734 125874 16056 6362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 2 15 1 0 0 84 1 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 80 transversion T A T>A 0.969 0.286 255 PASS . . . . . . 0.0004 0.0014 . 0.001 . . SERPINA13P:uc001ydt.3:exon3:c.T839A:p.M280K . . . 0.4957265 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 117.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caT/caA|H309Q|SERPINA13P|Non-coding_transcript|NON_CODING|NR_015340|NR_015340.ex.3) . 0.0004 0.0006 . 0.0004 0.0006 . 0.1974 . . . . . . . . 3.675e-04 . . . 0.0002 0.0004 0.0004 0 0 0.0007 0 0 0.0002 0.0004 0.0003 0 0.0002 0.0006 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0004 . . . 0.38 0.26 182 ENSG00000187483 SERPINA13P SERPINA13P . . . . . . 31 0.000477099 64976 29 0.000483446 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs148334181 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 0.0001 0.0004 0.0004 0.0001 0 7.959e-05 0.0007 0.0006 0 0 0.0002 0.0012 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs148334181 rs148334181 1 1538 10 1/0 0,252,255 +rs201777442 14 96671255 C A - BDKRB2 1030 Bradykinin receptor B2 NM_000623.3 1 4197 1176 NP_000614.1 P30411 substitution 5'UTR GRCh37 96671255 96671255 Chr14(GRCh37):g.96671255C>A -76 -76 NM_000623.3:c.-76C>A p.? p.? 1 113503 -42 5' 85.2503 8.22968 0.847089 9.93908 85.2503 8.22968 0.847089 10.0324 0 rs201777442 yes no Frequency/1000G 2 C 0.000000 0 0.000924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000444 0.007404 0.003064 0.007404 48 0 0 0 0 0 11 32 5 51954 9752 4802 1284 2322 3040 24800 4322 1632 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000463 0.000000 1 0 0 0 0 0 0 1 0 46 0 0 0 0 0 11 30 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -0.037 255 PASS . . . . . . . . . . . . BDKRB2:uc010avl.2:exon1:c.C99A:p.T33T . . . 0.55737704 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . UTR_5_PRIME(MODIFIER||||BDKRB2|mRNA|CODING|NM_000623|NM_000623.ex.1) . . . . . . . 0.7388 . . . . . . . . 1.425e-04 . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . UTR5 exonic UTR5 . . . 0.0004 . . . 0.53 0.64 182 . BDKRB2 BDKRB2 . . NM_000623:c.-32190C>A . . . 41 0.000631002 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201777442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0.0097 0 0.0015 0 0 0.0013 0 0 0 0.0069 0.0007 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201777442 rs201777442 1 1538 10 1/0 0,255,255 +rs140482892 14 96730262 C G - BDKRB1 1029 Bradykinin receptor B1 NM_000710.3 1 1301 1062 NP_000701.2 P46663 substitution synonymous exon GRCh37 96730262 96730262 Chr14(GRCh37):g.96730262C>G 243 243 NM_000710.3:c.243C>G p.Ala81= p.Ala81Ala 3 600337 253 3' 93.7876 XI.71 0.969302 XII.86 93.7876 XI.71 0.969302 XII.86 0 Cryptic Acceptor Strongly Activated 96730261 II.65 0.000658 64.7656 3.23057 0.000729 64.7656 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs140482892 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.001919 0.000208 0.000145 0.001084 0.000000 0.001884 0.002857 0.003063 0.001856 0.003063 532 5 5 11 0 58 362 79 12 277226 24038 34420 10152 18868 30778 126714 25792 6464 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 4 0 0 0 0 0 4 0 0 524 5 5 11 0 58 354 79 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4405 12992 13 1 14 0.00151163 0.000226963 0.00107643 0.00151163 0.000226963 0.00107643 80 transversion C G C>G 0.110 -1.570 A Ala GCC 0.403 A Ala GCG 0.107 81 255 PASS . . . . . . 0.0004 . . . 0.002 . . BDKRB1:NM_000710:exon3:c.C243G:p.A81A . . 0.44444445 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 126.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcG|A81|BDKRB1|mRNA|CODING|NM_000710|NM_000710.ex.3) 0.0002 0.0011 0.0015 0.0002 0.0011 0.0015 . -0.0357 . . . . . . . . 2.099e-03 . . . 0.0004 0.0016 0 0 0.0032 0.0024 0.0014 0.0019 0.0004 0.0019 0 0 0.0032 0.0026 0 0.0020 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.39 0.41 182 ENSG00000100739 BDKRB1 BDKRB1 . . . . . . 69 0.00106193 64976 67 0.00111693 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140482892 . . . . . . . . . . . . . . . . . . . . . . . 0.001076 . . . . . 0.0002 0.0017 0.0001 0.0010 0 0.0031 0.0024 0.0013 0.0019 0.0002 0.0034 0 0.0033 0 0.0026 0.0059 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0015 . . rs140482892 rs140482892 1 1538 10 1/0 0,245,255 +rs117507139 14 96798840 C T - ATG2B 20187 Autophagy related 2B NM_018036.6 -1 13215 6237 NP_060506.5 Q96BY7 substitution missense exon GRCh37 96798840 96798840 Chr14(GRCh37):g.96798840C>T 1360 1360 NM_018036.6:c.1360G>A p.Val454Met p.Val454Met 9 616226 -3 5' 71.2639 3.85536 0.326252 0 74.0119 5.39115 0.672374 0 0.499272 Cryptic Donor Strongly Activated 96798838 3.85536 0.326252 71.2639 5.39115 0.672374 74.0119 rs117507139 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.006000 0.001400 0.005954 0.000626 0.001030 0.010521 0.000000 0.001060 0.008186 0.015026 0.005807 0.015026 1630 15 35 103 0 32 1025 383 37 273764 23954 33992 9790 18780 30178 125208 25490 6372 0.000073 0.000000 0.000000 0.000204 0.000000 0.000000 0.000096 0.000235 0.000000 10 0 0 1 0 0 6 3 0 1610 15 35 101 0 32 1013 377 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8103 3599 11702 51 5 56 0.0062546 0.00138735 0.00476271 0.0062546 0.00138735 0.00476271 131 COSM3690272 Large intestine 0.000448 2231 transition G A G>A 1.000 1.981 V Val GTG 0.468 M Met ATG 1.000 454 13 7 Chicken 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.21 IV.32 255 PASS . 0.0041 0.0028 . 0.01 . 0.0016 0.0014 . 0.006 0.001 ENSG00000066739:ENST00000359933:exon9:c.G1360A:p.V454M ATG2B:uc001yfi.3:exon9:c.G1360A:p.V454M ATG2B:NM_018036:exon9:c.G1360A:p.V454M . . 0.45454547 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.616 . @ . . . . . 1 0.357 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V454M|ATG2B|mRNA|CODING|NM_018036|NM_018036.ex.9) 0.0014 0.0048 0.0063 0.0014 0.0048 0.0063 . -0.1115 0.095 -0.112 c . . . . . 6.378e-03 . . . 0.0007 0.0042 0.0011 0 0.0147 0.0065 0.0029 0.0013 0.0007 0.0061 0.0012 0 0.0138 0.0094 0.0029 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.110 . . exonic exonic exonic . . 0.702 0.0016 . . . 0.72 0.32 182 ENSG00000066739 ATG2B ATG2B . . . 0.999 0.384 . 431 0.00663322 64976 423 0.00705165 59986 Uncertain_significance . 0 . 0.041 . . . . . . . . . 37 . 0.069 . . 0.128 . . . 0.274 0.353 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.261 . . 0.208 . . . . . . 0 0.228 . . . . . 0.439 . 0.453 . HET 0.23 rs117507139 . . . . . . ID\x3dCOSM3690272\x3bOCCURENCE\x3d1(large_intestine) 0.004120879120879121 0.0 0.0027624309392265192 0.0 0.010554089709762533 X.54 0.001032 ENST00000359933 6.VI V.15 . 0.220000 Q96BY7 0.0024 0.09 . 0.004763 . 0.694 . . V.15 0.0008 0.0058 0.0011 0.0106 0 0.0150 0.0080 0.0050 0.0011 0.0003 0.0069 0 0.0066 0 0.0155 0.0097 0.0102 . . 0.465 . 1.514 1.514000 . . 0.220000 . . 1.0E-255 1.000 0.715 . 0.587 1.000 . 0.594 . 0.490 1.514 0.871 0.01 . . rs117507139 rs117507139 1 1538 10 1/0 0,255,255 +rs147149937 14 101302678 G T - MEG3 14575 Maternally expressed 3 (non-protein coding) NR_046473.1 1 9689 0 substitution intron GRCh37 101302678 101302678 Chr14(GRCh37):g.101302678G>T 1183+41 1183+41 NR_046473.1:n.1183+41G>T p.? p.? 5 5 605636 41 5' 83.6222 7.93332 0.970423 0.945125 83.6222 7.93332 0.970423 0.883757 0 rs147149937 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000800 0.000000 0.000000 0.004000 0.000000 0.004095 0.001214 0.002224 0.000000 0.000089 0.000093 0.007406 0.006853 0.003709 0.007406 662 18 52 0 1 2 501 71 17 161648 14828 23386 8252 11174 21412 67652 10360 4584 0.000037 0.000000 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 3 0 0 0 0 0 3 0 0 656 18 52 0 1 2 495 71 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.000 -1.570 255 PASS . 0.0014 . . 0.004 0.0008 0.001 . . 0.004 . . . . . . 0.47524753 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . -0.3158 . . . . . . . . 1.996e-03 . . . 0 0.0012 0 0 0 0.0039 0.0076 0 0 0.0013 0 0 0.0032 0.0034 0.0118 0 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0010 . . . 0.14 0.2 182 . MEG3 MEG3 . . . . . . 228 0.00350899 64976 223 0.00371753 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147149937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0031 0.0022 0 0 0.0060 0.0057 0.0017 9.341e-05 0.0013 0.0082 0.0036 0 0.0006 0.0086 0.0133 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs147149937 rs147149937 1 1538 10 1/0 0,255,255 +rs148718670 14 103574815 G A - EXOC3L4 20120 Exocyst complex component 3-like 4 NM_001077594.1 1 2581 2169 NP_001071062.1 Q17RC7 substitution missense exon GRCh37 103574815 103574815 Chr14(GRCh37):g.103574815G>A 1937 1937 NM_001077594.1:c.1937G>A p.Arg646Gln p.Arg646Gln 10 -40 5' 85.464 6.99123 0.991182 7.57709 85.464 6.99123 0.991182 7.19931 0 Exocyst complex component Sec6 rs148718670 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.004000 0.002900 0.003737 0.000583 0.001454 0.005722 0.000053 0.002566 0.004954 0.006940 0.004186 0.006940 1035 14 50 58 1 79 627 179 27 276992 24002 34398 10136 18858 30782 126574 25792 6450 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 1033 14 50 58 1 77 627 179 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8568 4403 12971 32 3 35 0.00372093 0.00068089 0.00269107 0.00372093 0.00068089 0.00269107 184 transition G A G>A 0.000 -0.037 R Arg CGG 0.207 Q Gln CAG 0.744 646 11 6 Dog 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 165.62 0.00 Tolerated 0.48 II.60 good 9.738E-1 0.5035 255 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0029 . 0.004 0.001 ENSG00000205436:ENST00000380069:exon10:c.G1937A:p.R646Q EXOC3L4:uc001ymk.3:exon10:c.G1937A:p.R646Q EXOC3L4:NM_001077594:exon10:c.G1937A:p.R646Q . . 0.49122807 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.309 . @ . . . . . 1 0.473 . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R646Q|EXOC3L4|mRNA|CODING|NM_001077594|NM_001077594.ex.10) 0.0007 0.0027 0.0037 0.0007 0.0027 0.0037 . -0.4722 -0.633 -0.472 c . . . . . 3.607e-03 . . . 0.0004 0.0035 0.0015 0.0002 0.0066 0.0052 0.0014 0.0027 0.0006 0.0035 0.0014 0.0001 0.0067 0.0048 0.0014 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.132 0.0014 . . . 0.32 0.49 182 ENSG00000205436 EXOC3L4 EXOC3L4 . . . 1.000 0.747 . 228 0.00350899 64976 221 0.00368419 59986 Likely_benign . 0 . 0.105 . . . . T 0.471 0.024 . . 37 . 0.042 . . 0.335 . . . 0.622 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.483 . . 0.343 . . . . . . 0 0.129 . . . . . 0.195 . 0.270 . HET 0.3 rs148718670 . . . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 6.1688 2.68E-4 ENST00000380069 IV.14 -0.0279 . 0.080000 Q17RC7 . . . 0.002691 . 0.097 . . . 0.0006 0.0037 0.0014 0.0056 5.798e-05 0.0070 0.0047 0.0042 0.0026 0.0006 0.0044 0.0036 0.0099 0 0.0066 0.0066 0.0041 . . 0.351 . 0.067 0.067000 . . 0.080000 . . 1.0E-255 0.000 0.063 . 0.385 0.658 . 0.052 . 0.530 0.067 0.069 0.01 . . rs148718670 rs148718670 1 1538 10 1/0 0,254,255 +rs183794482 14 104482300 A C - TDRD9 20122 Tudor domain containing 9 NM_153046.2 1 4764 4149 NP_694591.2 Q8NDG6 substitution intron GRCh37 104482300 104482300 Chr14(GRCh37):g.104482300A>C 2224-18 2224-18 NM_153046.2:c.2224-18A>C p.? p.? 22 21 -18 3' 96.299 X.69 0.948333 7.69042 96.299 X.52 0.969443 9.18773 0.0193899 rs183794482 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002874 0.000594 0.002506 0.002947 0.000000 0.000378 0.004892 0.001698 0.003413 0.004892 586 11 66 26 0 9 419 37 18 203924 18524 26334 8824 13748 23784 85648 21788 5274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 586 11 66 26 0 9 419 37 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4399 12948 35 5 40 0.00407735 0.00113533 0.00307977 0.00407735 0.00113533 0.00307977 44 transversion A C A>C 0.000 0.448 255 PASS . 0.0027 0.01 . 0.01 . 0.0016 0.0043 . 0.005 . . . . . . 0.7619048 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . INTRON(MODIFIER||||TDRD9|mRNA|CODING|NM_153046|) 0.0011 0.0031 0.0041 0.0011 0.0031 0.0041 . 0.1534 . . . . . . . . 2.187e-03 . . . 0.0012 0.0050 0.0129 0 0.01 0.0091 0 0.0004 0.0016 0.0041 0.0167 0 0.0016 0.0091 0 0.0004 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.17 0.24 182 ENSG00000156414 TDRD9 TDRD9 . . . . . . 200 0.00307806 64976 192 0.00320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs183794482 . . . . . . . . . . . . . . . . . . . . . . . 0.003080 . . . . . 0.0007 0.0028 0.0025 0.0028 0 0.0019 0.0048 0.0028 0.0004 0.0005 0.0032 0.0036 0.0066 0 0.0009 0.0055 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs183794482 rs183794482 1 1538 10 1/0 0,255,255 +rs117488690 14 104624316 G A - KIF26A 20226 Kinesin family member 26A NM_015656.1 1 6757 5649 NP_056471.1 Q9ULI4 substitution intron GRCh37 104624316 104624316 Chr14(GRCh37):g.104624316G>A 923+37 923+37 NM_015656.1:c.923+37G>A p.? p.? 4 4 613231 37 5' 89.5197 9.78772 0.998919 XII.81 89.5197 9.78772 0.998919 XII.33 0 rs117488690 yes no Frequency/1000G 2 G 0.000000 0 0.005791 0.003000 0.004100 0.000000 0.013900 0.010100 0.009593 0.003582 0.010297 0.013615 0.000094 0.008374 0.013646 0.004314 0.011236 0.013646 1456 63 154 29 1 90 1000 83 36 151776 17590 14956 2130 10626 10748 73284 19238 3204 0.000250 0.000114 0.000401 0.000000 0.000000 0.000372 0.000355 0.000000 0.000000 19 1 3 0 0 2 13 0 0 1418 61 148 29 1 86 974 83 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8049 3673 11722 95 15 110 0.011665 0.00406725 0.00929682 0.011665 0.00406725 0.00929682 10 transition G A G>A 0.000 -1.893 255 PASS . 0.01 0.01 . 0.01 0.003 0.0058 0.01 . 0.014 0.0041 . . . . . 0.36363637 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||KIF26A|mRNA|CODING|NM_015656|) 0.0041 0.0093 0.012 0.0041 0.0093 0.012 . 0.2497 . . . . . . . . 9.436e-03 . . . 0.0034 0.0117 0.0136 0 0.0038 0.0168 0.0164 0.0074 0.0036 0.0106 0.0135 0 0.0042 0.0139 0.0119 0.0075 . . . . . . intronic intronic intronic . . . 0.0058 . . . 0.22 0.42 182 ENSG00000066735 KIF26A KIF26A . . . . . . 738 0.011358 64976 710 0.0118361 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117488690 . . . . . . . . . . . . . . . . . . . . . . . 0.009297 . . . . . 0.0033 0.0097 0.0104 0.0148 0 0.0046 0.0135 0.0103 0.0084 0.0039 0.0091 0.0084 0.0066 0.0006 0.0032 0.0143 0.0133 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs117488690 rs117488690 1 1538 10 1/0 0,255,255 +rs138014749 14 105054273 G A - C14orf180 33795 Chromosome 14 open reading frame 180 NM_001286399.1 1 1839 534 NP_001273328.1 substitution intron GRCh37 105054273 105054273 Chr14(GRCh37):g.105054273G>A 241+58 241+58 NM_001286399.1:c.241+58G>A p.? p.? 3 3 58 5' 72.8352 4.80041 0.789524 6.55334 72.8352 4.80041 0.789524 6.56693 0 rs138014749 yes no Frequency/1000G 2 G 0.000000 0 0.003395 0.000000 0.002000 0.000000 0.010900 0.005800 0.004855 0.002643 0.003580 0.000000 0.000617 0.000000 0.007017 0.004582 0.002041 0.007017 150 23 3 0 1 0 105 16 2 30898 8702 838 302 1620 0 14964 3492 980 0.006667 0.000000 0.000000 0.000000 0.000000 0.000000 0.009524 0.000000 0.000000 1 0 0 0 0 0 1 0 0 148 23 3 0 1 0 103 16 2 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.008 0.205 255 PASS . 0.0046 0.01 . 0.01 . 0.0034 0.0058 . 0.011 0.002 . . . . . 0.46 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . 0.2596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0034 . . . 0.2 0.41 182 . C14orf180 C14orf180 . . . . . . 421 0.00647932 64976 404 0.0067349 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs138014749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0049 0.0036 0 0.0006 0.0046 0.0070 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs138014749 rs138014749 1 1538 10 1/0 0,255,255 +rs779751726 14 105359421 C T - CEP170B 20362 Centrosomal protein 170B NM_001112726.2 1 6705 4665 NP_001106197.1 substitution synonymous exon GRCh37 105359421 105359421 Chr14(GRCh37):g.105359421C>T 3987 3987 NM_001112726.2:c.3987C>T p.Ser1329= p.Ser1329Ser 14 -52 5' 86.8044 8.70331 0.911659 13.7702 86.8044 8.70331 0.911659 13.9105 0 transition C T C>T 0.756 -0.682 S Ser TCC 0.220 S Ser TCT 0.185 1329 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . 0.8516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000099814 CEP170B CEP170B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 14 105412384 T A - AHNAK2 20125 AHNAK nucleoprotein 2 NM_138420.3 -1 18320 17388 NP_612429.2 Q8IVF2 substitution missense exon GRCh37 105412384 105412384 Chr14(GRCh37):g.105412384T>A 9404 9404 NM_138420.3:c.9404A>T p.Asp3135Val p.Asp3135Val 7 608570 8753 3' 89.0379 XI.41 0.940398 13.2033 89.0379 XI.41 0.940398 13.2033 0 Cryptic Acceptor Strongly Activated 105412385 II.05 0.000133 64.1052 2.63992 0.001021 64.1052 transversion A T A>T 0.102 0.770 D Asp GAT 0.461 V Val GTT 0.178 3135 12 2 Olive baboon -3 -3 -6 I.38 0 13 5.IX 54 84 152 C0 353.86 0.00 Deleterious 0.01 IV.32 255 PASS . . . . . . . . . . . ENSG00000185567:ENST00000333244:exon7:c.A9404T:p.D3135V . AHNAK2:NM_138420:exon7:c.A9404T:p.D3135V . . 0.47605634 . . @ 169 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.451 . @ . . . . . 1 0.173 . . 355.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D3135V|AHNAK2|mRNA|CODING|NM_138420|NM_138420.ex.7) . . . . . . . -0.4167 -0.667 -0.417 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.020 . . exonic exonic exonic . . 0.210 @ . . . . . . ENSG00000185567 AHNAK2 AHNAK2 . . . 0.000 0.059 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.031 0.002 . . 37 . 0.072 . . 0.176 . . . 0.674 0.264 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.659 . . 0 0 0 0 0 0 . 0.475 . . 0.449 . . . . . . 0 0.614 . . . . . 0.137 . 0.181 . HET 0.03 . . . . . . . . . . . . . 5.0406 . ENST00000333244 II.53 I.35 . 0.080000 Q8IVF2 . . . . . 0.243 . . . . . . . . . . . . . . . . . . . . . . 0.924 . 0.112 0.112000 . . 0.080000 . . 1.0E-255 0.001 0.137 . 0.062 0.143 . 0.282 . 0.321 0.112 0.899 . . . . . 1 1538 10 1/0 0,203,223 +rs144282233 14 105916565 C T - MTA1 7410 Metastasis associated 1 NM_004689.3 1 2845 2148 NP_004680.2 Q13330 substitution intron GRCh37 105916565 105916565 Chr14(GRCh37):g.105916565C>T 369-33 369-33 NM_004689.3:c.369-33C>T p.? p.? 6 5 603526 -33 3' 94.2422 XII.97 0.984655 12.1415 94.2422 XII.97 0.984655 XII.27 0 Cryptic Acceptor Strongly Activated 105916576 7.63289 0.442367 81.6046 8.48404 0.618016 85.416 rs144282233 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.001000 0.000000 0.006000 0.007200 0.003873 0.000292 0.015098 0.018038 0.000000 0.000749 0.002411 0.000350 0.004037 0.018038 1070 7 519 182 0 23 304 9 26 276284 23962 34376 10090 18848 30726 126114 25728 6440 0.000043 0.000000 0.000233 0.000198 0.000000 0.000000 0.000016 0.000000 0.000000 6 0 4 1 0 0 1 0 0 1058 7 511 180 0 23 302 9 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4402 12975 27 4 31 0.00313953 0.000907853 0.00238352 0.00313953 0.000907853 0.00238352 48 transition C T C>T 0.000 -0.682 255 PASS . 0.0018 0.0028 . 0.004 . 0.0024 0.0072 . 0.006 0.001 . . . . . 0.43650794 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . 0.0009 0.0024 0.0031 0.0009 0.0024 0.0031 . 0.6449 . . . . . . . . 3.578e-03 . . . 0.0004 0.0046 0.0186 0 0.0005 0.0043 0.0014 0.0007 0.0004 0.0038 0.0190 0 0.0003 0.0032 0 0.0007 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.42 0.12 182 ENSG00000182979 MTA1 MTA1 . . . . . . 106 0.00163137 64976 94 0.00156703 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.002384 . . . . . 0.0003 0.0041 0.0152 0.0181 0 0.0003 0.0024 0.0042 0.0007 0.0003 0.0018 0.0119 0.0167 0 0.0009 0.0022 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs144282233 rs144282233 1 1538 10 1/0 0,247,255 +rs587687865 14 106110141 G A - IGHG2 5526 Immunoglobulin heavy constant gamma 2 (G2m marker) ENST00000390545.2 -1 1132 981 ENSP00000374987 P01859 substitution synonymous exon GRCh37 106110141 106110141 Chr14(GRCh37):g.106110141G>A 477 477 ENST00000390545.2:c.477C>T p.Asp159= p.Asp159Asp 3 147110 146 3' 81.1326 6.68205 0.89377 11.0782 81.1326 6.68205 0.89377 11.0782 0 Immunoglobulin C1-set CD80-like, immunoglobulin C2-set Immunoglobulin-like rs587687865 yes no Frequency/1000G 2 0.000200 A 1 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000186 0.000208 0.000291 0.000000 0.000106 0.000033 0.000161 0.000504 0.000000 0.000504 51 5 10 0 2 1 20 13 0 274452 23994 34406 10144 18858 30766 124064 25784 6436 0.000007 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 49 3 10 0 2 1 20 13 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.521 D Asp GAC 0.539 D Asp GAT 0.461 159 218 PASS . . . . . . 0.0002 0.0014 . . . ENSG00000211893:ENST00000390545:exon3:c.C477T:p.D159D . . . . 0.20895523 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 134.0 . . . . . . . . . . -0.4745 . . . . . . . . 1.592e-04 . . . 0.0001 0.0002 0.0002 0 0.0008 0.0002 0 0 0.0001 0.0001 0.0002 0 0.0005 0.0002 0 0 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0002 . . . . . . ENSG00000211893 abParts . . . dist\x3d3572\x3bdist\x3d25773 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0.0003 0 0.0001 0.0005 0.0002 0 3.25e-05 0.0001 0.0002 0 0 0 0.0006 0.0002 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +rs768058032 14 106110177 G C - IGHG2 5526 Immunoglobulin heavy constant gamma 2 (G2m marker) ENST00000390545.2 -1 1132 981 ENSP00000374987 P01859 substitution missense exon GRCh37 106110177 106110177 Chr14(GRCh37):g.106110177G>C 441 441 ENST00000390545.2:c.441C>G p.His147Gln p.His147Gln 3 147110 110 3' 81.1326 6.68205 0.89377 11.0782 81.1326 6.68205 0.89377 11.0782 0 Immunoglobulin C1-set CD80-like, immunoglobulin C2-set Immunoglobulin-like rs768058032 yes no Frequency 1 0.000000 0 0.000168 0.000792 0.000523 0.000394 0.000053 0.000000 0.000016 0.000000 0.000311 0.000792 46 19 18 4 1 0 2 0 2 274310 23992 34404 10144 18862 30766 123930 25784 6428 0.000007 0.000083 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 44 17 18 4 1 0 2 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 H His CAC 0.587 Q Gln CAG 0.744 147 27 3 Armadillo 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 353.86 0.00 Tolerated 0.54 II.43 255 PASS . . . . . . . . . . . ENSG00000211893:ENST00000390545:exon3:c.C441G:p.H147Q . . . . 0.33333334 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 177.0 . . . . . . . . . . -0.4467 . . . . . . . . 1.674e-04 . . . 0.0007 0.0002 0.0010 0 0 7.121e-05 0 0 0.0007 0.0002 0.0010 0 0 3.681e-05 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211893 abParts . . . dist\x3d3608\x3bdist\x3d25737 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0001 0.0005 0.0004 0 0 1.835e-05 0 0 0.0011 0.0005 0.0012 0 0.0006 0 0 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs762769132 14 106110255 G C - IGHG2 5526 Immunoglobulin heavy constant gamma 2 (G2m marker) ENST00000390545.2 -1 1132 981 ENSP00000374987 P01859 substitution synonymous exon GRCh37 106110255 106110255 Chr14(GRCh37):g.106110255G>C 363 363 ENST00000390545.2:c.363C>G p.Leu121= p.Leu121Leu 3 147110 32 3' 81.1326 6.68205 0.89377 11.0782 81.1326 6.68205 0.89377 11.1859 0 Immunoglobulin-like rs762769132 yes no Frequency 1 0.000000 0 0.000204 0.000000 0.000116 0.001183 0.000159 0.000098 0.000250 0.000039 0.000311 0.001183 56 0 4 12 3 3 31 1 2 274266 23992 34406 10144 18860 30764 123890 25780 6430 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 54 0 4 12 3 3 29 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.992 1.497 L Leu CTC 0.197 L Leu CTG 0.404 121 255 PASS . . . . . . . . . . . ENSG00000211893:ENST00000390545:exon3:c.C363G:p.L121L . . . . 0.452459 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 305.0 . . . . . . . . . . 0.8648 . . . . . . . . 2.393e-04 . . . 0 0.0002 8.649e-05 0 0 0.0005 0 6.065e-05 0 0.0002 8.919e-05 0.0001 0 0.0003 0 6.1e-05 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211893 abParts . . . dist\x3d3686\x3bdist\x3d25659 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.16 0 0.0002 0.0001 0.0012 0.0002 4.487e-05 0.0003 0.0004 9.752e-05 0 6.476e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,222 +rs777509204 14 106207899 G C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution downstream GRCh37 106207899 106207899 Chr14(GRCh37):g.106207899G>C *27675 *27675 ENST00000619212.1:c.*27675C>G p.? p.? 8 147100 27998 3' 90.0212 10.337 0.964131 XI.88 90.0212 10.337 0.964131 XI.88 0 rs777509204 yes no Frequency 1 0.000000 0 0.000267 0.000169 0.000029 0.000200 0.000000 0.000032 0.000473 0.000196 0.000319 0.000473 72 4 1 2 0 1 57 5 2 269796 23628 34326 10008 18856 30778 120406 25528 6266 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 4 1 2 0 1 57 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -2.135 189 PASS . . . . . . . . . . . . IGHG1:uc001yse.3:exon5:c.C502G:p.Q168E . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 75.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1413 . . . . . . . . 2.563e-04 . . . 0.0002 0.0002 0.0002 0 0.0003 0.0004 0 6.061e-05 0.0001 0.0002 0.0002 0 0.0003 0.0003 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic intergenic . . . @ . . . 0.3 0.29 182 ENSG00000211896 IGHG1 . . . dist\x3d68755\x3bdist\x3d116394 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.576e-05 8.246e-05 0 0 0 4.485e-05 0.0001 0.0004 3.249e-05 0.0004 0.0019 0.0013 0.0083 0 0.0012 0.0035 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs1063434 rs1063434 rs1063434 rs1063434 1 1538 10 1/0 0,241,255 +rs587765230 14 106236722 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106236722 106236722 Chr14(GRCh37):g.106236722C>T 725-48 725-48 ENST00000619212.1:c.725-48G>A p.? p.? 6 5 147100 -48 3' 90.6451 X.04 0.869402 15.117 90.6451 X.04 0.869402 15.284 0 rs587765230 yes no Frequency/1000G 2 0.002196 T 11 0.002196 0.002300 0.000000 0.007900 0.000000 0.000000 0.000358 0.000510 0.000806 0.000109 0.000137 0.000186 0.000111 0.001278 0.000399 0.001278 83 9 22 1 2 5 12 30 2 231958 17636 27304 9174 14572 26894 107888 23478 5012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 9 22 1 2 5 12 30 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.125 187 PASS . . . . . 0.0023 0.0022 . 0.0079 . . . . . . . 0.23692308 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 325.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4071 . . . . . . . . 7.985e-06 . . . . . . . . . . . 0 9.506e-06 0 0.0001 0 0 0 0 . . . . . . intronic ncRNA_intronic intergenic . . . 0.0022 . . . . . . ENSG00000211897 . . . . dist\x3d97578\x3bdist\x3d87571 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.424e-05 0.0002 0.0007 0 0.0001 0 7.086e-05 0 0.0002 0.0019 0.0029 0.0103 0.0050 0 0.0184 0.0005 0.0041 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,192,255 +rs775538648 14 106236834 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106236834 106236834 Chr14(GRCh37):g.106236834C>T 725-160 725-160 ENST00000619212.1:c.725-160G>A p.? p.? 6 5 147100 -160 3' 90.6451 X.04 0.869402 15.117 90.6451 X.04 0.869402 15.117 0 rs775538648 yes no Frequency 1 0.000000 0 0.000501 0.000163 0.000278 0.001297 0.000056 0.000110 0.000763 0.000340 0.000584 0.001297 118 3 8 11 1 3 81 8 3 235688 18454 28732 8480 17902 27210 106224 23550 5136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 118 3 8 11 1 3 81 8 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.008 -0.279 189 PASS . . . . . . . . . . . UNKNOWN . . . . 0.13268608 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 309.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3631 . . . . . . . . 3.922e-04 . . . 0.0004 0.0003 8.679e-05 0.0002 0.0003 0.0005 0 0.0001 0.0005 0.0002 8.949e-05 0.0001 0.0002 0.0001 0 0.0001 unknown . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211897 abParts . . . dist\x3d97690\x3bdist\x3d87459 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.184e-05 0.0005 0.0003 0.0013 6.015e-05 4.637e-05 0.0008 0.0007 0.0001 0.0004 0.0005 0 0 0 0.0035 0.0001 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,180,255 +rs782626508 14 106320669 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106320669 106320669 Chr14(GRCh37):g.106320669C>T 430+8739 430+8739 ENST00000619212.1:c.430+8739G>A p.? p.? 4 4 147100 8739 5' 94.6711 X.63 0.998716 10.0161 94.6711 X.63 0.998716 10.0161 0 rs782626508 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000117 0.000033 0.000000 0.000000 0.000000 0.000117 3 0 0 0 2 1 0 0 0 241770 14962 33400 9670 17148 30700 108350 22124 5416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 87 Exomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . ENSG00000211899:ENST00000390559:exon4:c.G1141A:p.A381T . . . . 0.53125 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 192.0 . . . . . . . . . . 0.3939 . . . . . . . . 8.007e-06 . . . 0 1.155e-05 0 0.0002 0 0 0 0 0 9.83e-06 0 0.0001 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211899 abParts . . . dist\x3d181525\x3bdist\x3d3624 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.241e-05 0 0 0.0001 0 0 0 3.257e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs782626508 14 106320669 C T - IGHM 5541 Immunoglobulin heavy constant mu ENST00000390559.2 -1 1461 1362 ENSP00000375001 substitution missense exon GRCh37 106320669 106320669 Chr14(GRCh37):g.106320669C>T 1141 1141 ENST00000390559.2:c.1141G>A p.Ala381Thr p.Ala381Thr 4 147020 174 3' 89.4591 9.45311 0.984518 XI.19 89.4591 9.45311 0.984518 XI.19 0 Immunoglobulin C1-set Immunoglobulin Immunoglobulin-like rs782626508 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000117 0.000033 0.000000 0.000000 0.000000 0.000117 3 0 0 0 2 1 0 0 0 241770 14962 33400 9670 17148 30700 108350 22124 5416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 87 Exomes transition G A G>A 0.000 -0.360 A Ala GCC 0.403 T Thr ACC 0.361 381 18 10 Platypus 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 251.13 0.00 Tolerated 0.34 3.III good 4.273E-1 0.2953 255 PASS . . . . . . . . . . . ENSG00000211899:ENST00000390559:exon4:c.G1141A:p.A381T . . . . 0.53125 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 192.0 . . . . . . . . . . 0.3939 . . . . . . . . 8.007e-06 . . . 0 1.155e-05 0 0.0002 0 0 0 0 0 9.83e-06 0 0.0001 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211899 abParts . . . dist\x3d181525\x3bdist\x3d3624 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.241e-05 0 0 0.0001 0 0 0 3.257e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs2338628 14 106329451 G A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution synonymous exon GRCh37 106329451 106329451 Chr14(GRCh37):g.106329451G>A 387 387 ENST00000619212.1:c.387C>T p.Tyr129= p.Tyr129Tyr 4 147100 15 3' 0 0 0 0 0 0 0 0 0 rs2338628 yes no Frequency 1 0.000000 0 0.001092 0.000558 0.001688 0.004828 0.000771 0.000335 0.001210 0.000078 0.000811 0.004828 290 13 55 45 14 10 146 2 5 265624 23298 32582 9320 18164 29888 120664 25542 6166 0.000075 0.000086 0.000184 0.000000 0.000220 0.000067 0.000050 0.000000 0.000000 10 1 3 0 2 1 3 0 0 269 11 49 45 9 8 140 2 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.044 Y Tyr TAC 0.562 Y Tyr TAT 0.438 129 255 PASS . . . . . . . . . . . ENSG00000211900:ENST00000390560:exon1:c.C18T:p.Y6Y . . . . 0.96428573 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . . . . . . . . . -0.0411 . . . . . . . . . . . . 0.0116 0.0453 0.0731 0.0502 0.0408 0.0787 0.0208 0.0274 0.0132 0.0428 0.0795 0.0469 0.0325 0.0621 0.0263 0.0279 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.25 0.41 182 ENSG00000211900 abParts . . . dist\x3d2867\x3bdist\x3d54387 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0012 0.0016 0.0050 0.0008 9.065e-05 0.0013 0.0010 0.0003 0 0.0004 0.0051 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2338628 rs2338628 rs2338628 rs2338628 1 1538 255 1.I 0,0,255 +rs2338627 14 106329452 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution missense exon GRCh37 106329452 106329452 Chr14(GRCh37):g.106329452T>C 386 386 ENST00000619212.1:c.386A>G p.Tyr129Cys p.Tyr129Cys 4 147100 14 3' 0 0 0 0 0 0 0 0 0 rs2338627 yes no Frequency 1 0.000000 0 0.001082 0.000000 0.026316 0.000000 0.000000 0.000000 0.003745 0.000000 0.000000 0.026316 4 0 2 0 0 0 2 0 0 3698 2780 76 14 120 0 534 128 46 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 375 Genomes transition A G A>G 0.000 0.044 Y Tyr TAC 0.562 C Cys TGC 0.552 129 28 5 Amazon molly -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 353.86 0.00 Tolerated 0.16 II.53 255 PASS . . . . . . . . . . . ENSG00000211900:ENST00000390560:exon1:c.A17G:p.Y6C . . . . 0.9634146 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . . . . . . . . . -0.0408 . . . . . . . . . . . . 0.0094 0.0234 0.0243 0.0220 0.0333 0.0435 0.0238 0.0097 0.0108 0.0214 0.0268 0.0215 0.0208 0.0317 0.0312 0.0099 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.26 0.4 182 ENSG00000211900 abParts . . . dist\x3d2868\x3bdist\x3d54386 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 0.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0.0263 0 0 0 0.0037 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2338627 rs2338627 rs2338627 rs2338627 1 1538 255 1.I 0,0,255 +rs2338626 14 106329453 A C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution missense exon GRCh37 106329453 106329453 Chr14(GRCh37):g.106329453A>C 385 385 ENST00000619212.1:c.385T>G p.Tyr129Asp p.Tyr129Asp 4 147100 13 3' 0 0 0 0 0 0 0 0 0 rs2338626 yes no Frequency/HapMap/1000G 3 0.000000 0 0.637780 0.394900 0.794500 0.705400 0.686900 0.710400 0.000360 0.000000 0.004926 0.000000 0.000000 0.000000 0.000473 0.000000 0.000000 0.004926 11 0 4 0 0 0 7 0 0 30576 8618 812 298 1598 0 14798 3480 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion T G T>G 0.008 0.044 Y Tyr TAC 0.562 D Asp GAC 0.539 129 28 5 Amazon molly -2 -3 -6 0.2 I.38 6.II 13 136 54 160 C0 353.86 0.00 Tolerated 0.17 II.53 255 PASS . . . . . 0.39 0.64 0.71 0.71 0.69 0.79 ENSG00000211900:ENST00000390560:exon1:c.T16G:p.Y6D . . . . 0.962963 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . . . . . . . . -0.0381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.3622 . . . 0.22 0.38 182 ENSG00000211900 abParts . . . dist\x3d2869\x3bdist\x3d54385 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 0.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0.0049 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2338626 rs2338626 rs2338626 rs2338626 1 1538 255 1.I 0,0,255 +rs797023012 14 106354497 T G - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106354497 106354497 Chr14(GRCh37):g.106354497T>G 373-25032 373-25032 ENST00000619212.1:c.373-25032A>C p.? p.? 4 3 147100 -25032 3' 0 0 0 0 0 0 0 0 0 rs797023012 no no 0 0.000000 0 transversion A C A>C 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.38650307 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 163.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211912 abParts . . . dist\x3d27913\x3bdist\x3d29341 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs797032357 14 106354498 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106354498 106354498 Chr14(GRCh37):g.106354498C>T 373-25033 373-25033 ENST00000619212.1:c.373-25033G>A p.? p.? 4 3 147100 -25033 3' 0 0 0 0 0 0 0 0 0 rs797032357 no no 0 0.000000 0 transition G A G>A 0.000 -3.023 255 PASS . . . . . . . . . . . . . . . . 0.38509318 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 161.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211912 abParts . . . dist\x3d27914\x3bdist\x3d29340 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs537034100 14 106354499 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106354499 106354499 Chr14(GRCh37):g.106354499T>C 373-25034 373-25034 ENST00000619212.1:c.373-25034A>G p.? p.? 4 3 147100 -25034 3' 0 0 0 0 0 0 0 0 0 rs537034100 yes no Frequency/1000G 2 0.000000 0 0.022564 0.053700 0.015300 0.007900 0.005000 0.020200 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000069 1 0 0 0 0 0 1 0 0 30038 8642 646 284 1602 0 14438 3488 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition A G A>G 0.000 -0.198 255 PASS . . . . . 0.054 0.023 0.02 0.0079 0.005 0.015 . . . . . 0.38607594 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 158.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream ncRNA_exonic intergenic . . . 0.0226 . . . . . . ENSG00000211912 abParts . . . dist\x3d27915\x3bdist\x3d29339 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs537034100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.329e-05 0 0 0 0 6.926e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +rs368549782 14 106385222 G A - FAM30A 19955 Family with sequence similarity 30, member A NR_026800.2 1 9613 0 substitution intron GRCh37 106385222 106385222 Chr14(GRCh37):g.106385222G>A 839+546 839+546 NR_026800.2:n.839+546G>A p.? p.? 1 1 616623 546 5' 76.7393 6.18234 0.202396 5.52157 76.7393 6.18234 0.202396 5.52157 0 rs368549782 no no 0 0.000000 0 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000143 0.000000 0.000000 0.000143 2 0 0 0 0 0 2 0 0 29508 8472 750 260 1606 0 14022 3478 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition G A G>A 0.008 -0.521 250 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||KIAA0125|Non-coding_transcript|NON_CODING|NR_026800|) . . . . . . . -0.5254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226777 abParts KIAA0125 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368549782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.778e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs368549782 rs368549782 1 1538 10 1/0 0,255,255 +rs368549782 14 106385222 G A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106385222 106385222 Chr14(GRCh37):g.106385222G>A 373-55757 373-55757 ENST00000619212.1:c.373-55757C>T p.? p.? 4 3 147100 -55757 3' 0 0 0 0 0 0 0 0 0 rs368549782 no no 0 0.000000 0 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000143 0.000000 0.000000 0.000143 2 0 0 0 0 0 2 0 0 29508 8472 750 260 1606 0 14022 3478 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition C T C>T 0.008 -0.521 250 PASS . . . . . . . . . . . . . . . . 0.29787233 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||KIAA0125|Non-coding_transcript|NON_CODING|NR_026800|) . . . . . . . -0.5254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226777 abParts KIAA0125 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368549782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.778e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs368549782 rs368549782 1 1538 10 1/0 0,255,255 +rs782631800 14 106452763 C A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452763 106452763 Chr14(GRCh37):g.106452763C>A 372+65616 372+65616 ENST00000619212.1:c.372+65616G>T p.? p.? 3 3 147100 65616 5' 0 0 0 0 0 0 0 0 0 New Donor Site 106452765 1.22927 0.072779 61.409 rs782631800 yes no Frequency 1 0.000000 0 0.000328 0.004154 0.000088 0.000000 0.000000 0.000000 0.000008 0.000039 0.000158 0.004154 88 82 3 0 0 0 1 1 1 268352 19740 34212 10036 18660 30772 123146 25452 6334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 88 82 3 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.480 0.609 182 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.G259T:p.V87F . . . . 0.11643836 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 292.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.1743 . . . . . . . . 1.599e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211934 abParts . . . dist\x3d14405\x3bdist\x3d291506 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.05 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0182 0.0035 0.0045 0 0 0.0003 6.989e-05 0.0011 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,181,255 +rs1061866 14 106452764 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452764 106452764 Chr14(GRCh37):g.106452764C>T 372+65615 372+65615 ENST00000619212.1:c.372+65615G>A p.? p.? 3 3 147100 65615 5' 0 0 0 0 0 0 0 0 0 rs1061866 yes no Frequency 1 0.000000 0 0.000462 0.005868 0.000058 0.000000 0.000000 0.000000 0.000024 0.000039 0.000316 0.005868 124 116 2 0 0 0 3 1 2 268398 19768 34204 10036 18668 30772 123162 25452 6336 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 124 116 2 0 0 0 3 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.378 -0.521 183 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.G258A:p.R86R . . . . 0.11971831 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 284.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3133 . . . . . . . . 6.398e-05 . . . 0.0008 8.916e-05 0 0 0 0 0 0 0.0010 7.604e-05 0 0 0 0 0 0 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.19 0.29 182 ENSG00000211934 abParts . . . dist\x3d14406\x3bdist\x3d291505 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 8.638e-05 0 0 0 0 1.837e-05 0.0002 0 0.0216 0.0041 0.0030 0 0 0.0003 6.988e-05 0.0011 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . 0.011 rs1061866 rs1061866 rs1061866 rs1061866 1 1538 10 1/0 0,183,255 +rs781881303 14 106452781 G T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452781 106452781 Chr14(GRCh37):g.106452781G>T 372+65598 372+65598 ENST00000619212.1:c.372+65598C>A p.? p.? 3 3 147100 65598 5' 0 0 0 0 0 0 0 0 0 0.000403 0.005065 0.000088 0.000000 0.000054 0.000000 0.000016 0.000079 0.000158 0.005065 108 99 3 0 1 0 2 2 1 268008 19546 34190 10048 18642 30772 123066 25418 6326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 99 3 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.360 178 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.C241A:p.Q81K . . . . 0.10784314 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 306.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211934 abParts . . . dist\x3d14423\x3bdist\x3d291488 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0230 0.0043 0.0047 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,179,255 +rs782539815 14 106452782 T G - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452782 106452782 Chr14(GRCh37):g.106452782T>G 372+65597 372+65597 ENST00000619212.1:c.372+65597A>C p.? p.? 3 3 147100 65597 5' 0 0 0 0 0 0 0 0 0 0.004427 0.023369 0.004644 0.000000 0.000711 0.000000 0.000141 0.000643 0.001136 0.023369 110 101 3 0 1 0 2 2 1 24846 4322 646 292 1406 0 14188 3112 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 101 3 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 51 Genomes transversion A C A>C 0.000 -1.732 175 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.A240C:p.A80A . . . . 0.10197368 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 304.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211934 abParts . . . dist\x3d14424\x3bdist\x3d291487 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0234 0.0044 0.0046 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,178,255 +rs529388279 14 106452789 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452789 106452789 Chr14(GRCh37):g.106452789T>C 372+65590 372+65590 ENST00000619212.1:c.372+65590A>G p.? p.? 3 3 147100 65590 5' 0 0 0 0 0 0 0 0 0 rs529388279 yes no Frequency/1000G 2 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000433 0.005443 0.000117 0.000000 0.000054 0.000000 0.000016 0.000079 0.000158 0.005443 116 106 4 0 1 0 2 2 1 267862 19476 34188 10054 18630 30774 123012 25406 6322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 114 104 4 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.279 176 PASS . . . . . 0.0023 0.0006 . . . . ENSG00000211934:ENST00000390594:exon2:c.A233G:p.N78S . . . . 0.104377106 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 297.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2843 . . . . . . . . 3.200e-05 . . . 0.0003 3.342e-05 0 0 0 0 0 0 0.0004 2.85e-05 0 0 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0006 . . . . . . ENSG00000211934 abParts . . . dist\x3d14431\x3bdist\x3d291480 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 8.226e-06 0 0 0 0 0 0 0 0.0245 0.0046 0.0062 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +rs186314384 14 106452793 T G - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452793 106452793 Chr14(GRCh37):g.106452793T>G 372+65586 372+65586 ENST00000619212.1:c.372+65586A>C p.? p.? 3 3 147100 65586 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 106452778 0.000139 67.2755 1.26034 0.001401 67.2755 rs186314384 yes no Frequency/1000G 2 0.000000 0 0.000444 0.005586 0.000117 0.000000 0.000054 0.000000 0.000016 0.000079 0.000158 0.005586 119 109 4 0 1 0 2 2 1 267940 19512 34182 10054 18632 30774 123052 25410 6324 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 109 4 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.286 175 PASS . . . . . . . . . . . ENSG00000211934:ENST00000390594:exon2:c.A229C:p.T77P . . . . 0.103559874 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 309.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0507 . . . . . . . . 1.601e-05 . . . 0.0001 2.228e-05 8.655e-05 0 0 0 0 0 0.0001 1.9e-05 8.925e-05 0 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0006 . . . 0.22 0.25 182 ENSG00000211934 abParts . . . dist\x3d14435\x3bdist\x3d291476 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0255 0.0048 0.0063 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,178,255 +rs567161886 14 106452796 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452796 106452796 Chr14(GRCh37):g.106452796C>T 372+65583 372+65583 ENST00000619212.1:c.372+65583G>A p.? p.? 3 3 147100 65583 5' 0 0 0 0 0 0 0 0 0 rs567161886 yes no Frequency/1000G 2 0.000399 T 2 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000414 0.005202 0.000117 0.000000 0.000054 0.000000 0.000016 0.000079 0.000158 0.005202 111 101 4 0 1 0 2 2 1 267816 19416 34192 10054 18628 30774 123020 25410 6322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 101 4 0 1 0 2 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.570 176 PASS . . . . . 0.0015 0.0004 . . . . ENSG00000211934:ENST00000390594:exon2:c.G226A:p.G76S . . . . 0.10443038 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 316.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4912 . . . . . . . . 2.401e-05 . . . 0.0002 3.341e-05 0 0 0 2.385e-05 0 0 0.0002 2.85e-05 0 0 0 1.847e-05 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0004 . . . . . . ENSG00000211934 abParts . . . dist\x3d14438\x3bdist\x3d291473 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.564e-05 4.112e-06 0 0 0 0 0 0 0 0.0239 0.0045 0.0063 0 0.0007 0.0006 0.0001 0.0011 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,177,255 +rs575101293 14 106452804 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452804 106452804 Chr14(GRCh37):g.106452804T>C 372+65575 372+65575 ENST00000619212.1:c.372+65575A>G p.? p.? 3 3 147100 65575 5' 0 0 0 0 0 0 0 0 0 rs575101293 yes no Frequency/1000G 2 0.000399 C 2 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000399 0.004824 0.000117 0.000199 0.000000 0.000000 0.000032 0.000118 0.000000 0.004824 107 94 4 2 0 0 4 3 0 268002 19484 34196 10056 18630 30776 123104 25434 6322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 107 94 4 2 0 0 4 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.150 0.770 178 PASS . . . . . 0.0008 0.0004 . . 0.001 . ENSG00000211934:ENST00000390594:exon2:c.A218G:p.N73S . . . . 0.107744105 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 297.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0497 . . . . . . . . 6.404e-05 . . . 0.0001 8.909e-05 8.655e-05 0 0 0.0001 0 0 0.0001 7.599e-05 8.925e-05 0 0 0.0001 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0004 . . . . . . ENSG00000211934 abParts . . . dist\x3d14446\x3bdist\x3d291465 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.645e-05 0 0.0002 0 0 1.837e-05 0 0 0.0221 0.0041 0.0062 0 0 0.0010 0.0001 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +rs539430423 14 106452805 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution intron GRCh37 106452805 106452805 Chr14(GRCh37):g.106452805T>C 372+65574 372+65574 ENST00000619212.1:c.372+65574A>G p.? p.? 3 3 147100 65574 5' 0 0 0 0 0 0 0 0 0 rs539430423 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000385 0.004692 0.000117 0.000099 0.000000 0.000000 0.000041 0.000079 0.000000 0.004692 103 91 4 1 0 0 5 2 0 267844 19396 34196 10052 18612 30776 123056 25440 6316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 91 4 1 0 0 5 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.512 0.448 178 PASS . . . . . . 0.0004 . . 0.002 . ENSG00000211934:ENST00000390594:exon2:c.A217G:p.N73D . . . . 0.10958904 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 292.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3289 . . . . . . . . 8.004e-05 . . . 0 0.0001 8.655e-05 0 0 0.0002 0 0 0 8.549e-05 8.925e-05 0 0 0.0001 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0004 . . . . . . ENSG00000211934 abParts . . . dist\x3d14447\x3bdist\x3d291464 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.056e-05 2.98e-05 0.0001 0 0 2.756e-05 0 0 0.0219 0.0040 0.0047 0 0 0.0006 0.0001 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,181,255 +rs4042977 14 106691818 G T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106691818 106691818 Chr14(GRCh37):g.106691818G>T -23785 -23785 ENST00000619212.1:c.-23785C>A p.? p.? 1 147100 -23831 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 rs4042977 yes no Frequency 1 T 0.000000 0 0.000101 0.000000 0.000030 0.000000 0.000162 0.000402 0.000074 0.000040 0.000161 0.000402 27 0 1 0 3 12 9 1 1 268206 23804 33606 9882 18518 29844 121116 25212 6224 0.000007 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 25 0 1 0 3 10 9 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -3.588 182 PASS . . . . . . . . . . . ENSG00000211947:ENST00000390607:exon2:c.C206A:p.S69Y . . . . 0.11764706 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 187.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0384 . . . . . . . . 5.060e-03 . . . 0.0011 0.0052 0.0036 0.0089 0.0026 0.0055 0.0014 0.0076 0.0012 0.0046 0.0036 0.0069 0.0020 0.0044 0.0029 0.0077 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.19 0.29 182 ENSG00000211947 abParts . . . dist\x3d253460\x3bdist\x3d52451 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 rs4042977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.214e-05 3.047e-05 0 5.899e-05 0 6.538e-05 0.0002 0.0004 0 0.0002 0 0 0.0013 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs4042977 rs4042977 rs4042977 rs4042977 1 1538 10 1/0 0,201,255 +rs80323191 14 106780761 C G - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106780761 106780761 Chr14(GRCh37):g.106780761C>G -112728 -112728 ENST00000619212.1:c.-112728G>C p.? p.? 1 147100 -112774 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 rs80323191 yes no Frequency/1000G 2 C 0.000000 0 0.037141 0.006800 0.020400 0.000000 0.104400 0.074900 transversion G C G>C 0.000 -1.489 255 PASS . . . . . 0.0068 0.037 0.075 . 0.1 0.02 ENSG00000211952:ENST00000390612:exon2:c.G103C:p.D35H . . . . 0.5090909 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 165.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0371 . . . 0.11 0.12 182 ENSG00000211952 abParts . . . dist\x3d35795\x3bdist\x3d157684 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80323191 rs80323191 1 1538 10 1/0 0,245,255 +rs76796134 14 106780762 C T - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106780762 106780762 Chr14(GRCh37):g.106780762C>T -112729 -112729 ENST00000619212.1:c.-112729G>A p.? p.? 1 147100 -112775 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 rs76796134 yes no Frequency/1000G 2 C 0.000000 0 0.037141 0.006800 0.020400 0.000000 0.104400 0.074900 0.000012 0.000000 0.000000 0.000000 0.000000 0.000034 0.000017 0.000000 0.000000 0.000034 3 0 0 0 0 1 2 0 0 259894 22616 32998 9822 18388 29640 117808 22558 6064 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.005 255 PASS . . . . . 0.0068 0.037 0.075 . 0.1 0.02 ENSG00000211952:ENST00000390612:exon2:c.G102A:p.S34S . . . . 0.5 . . @ 80 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 160.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4835 . . . . . . . . 9.932e-06 . . . 0 1.365e-05 0 0 0 3.18e-05 0 0 . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0371 . . . 0.14 0.14 182 ENSG00000211952 abParts . . . dist\x3d35796\x3bdist\x3d157683 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.615e-06 0 0 0 0 9.574e-06 0 3.374e-05 0 3.606e-05 0 0 0 0 7.487e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76796134 rs76796134 1 1538 10 1/0 0,246,255 +rs774758130 14 106791044 G A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106791044 106791044 Chr14(GRCh37):g.106791044G>A -123011 -123011 ENST00000619212.1:c.-123011C>T p.? p.? 1 147100 -123057 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 Cryptic Acceptor Strongly Activated 106791044 1.33617 8.9e-05 62.2048 1.56771 0.000141 61.719 rs774758130 yes no Frequency 1 0.000000 0 0.000026 0.000000 0.000000 0.000000 0.000054 0.000000 0.000040 0.000039 0.000000 0.000054 7 0 0 0 1 0 5 1 0 273030 23726 34262 10016 18616 30698 123680 25634 6398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 1 0 5 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 0.044 185 PASS . . . . . . . . . . . ENSG00000211953:ENST00000390613:exon2:c.C312T:p.S104S . . . . 0.123595506 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2531 . . . . . . . . 1.036e-04 . . . 0 5.583e-05 8.679e-05 0.0002 0 4.777e-05 0 6.086e-05 0 3.807e-05 8.945e-05 0.0001 0 1.848e-05 0 6.121e-05 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211953 abParts . . . dist\x3d46078\x3bdist\x3d147401 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.649e-05 0 0 0 0 3.675e-05 0 0 0 9.852e-05 0 0 0.0006 0.0003 6.742e-05 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs529206613 14 106791048 T C - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106791048 106791048 Chr14(GRCh37):g.106791048T>C -123015 -123015 ENST00000619212.1:c.-123015A>G p.? p.? 1 147100 -123061 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 rs529206613 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000040 0.000042 0.000000 0.000100 0.000107 0.000033 0.000040 0.000039 0.000000 0.000107 11 1 0 1 2 1 5 1 0 273072 23708 34260 10024 18616 30704 123696 25664 6400 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 1 0 1 2 1 5 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.976 -0.360 190 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000211953:ENST00000390613:exon2:c.A308G:p.N103S . . . . 0.13483146 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 89.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4226 . . . . . . . . 1.354e-04 . . . 0.0001 0.0001 8.679e-05 0.0002 0 0.0001 0 6.085e-05 0.0001 5.71e-05 8.945e-05 0.0001 0 3.696e-05 0 6.12e-05 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0002 . . . . . . ENSG00000211953 abParts . . . dist\x3d46082\x3bdist\x3d147397 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.586e-05 3.297e-05 0 0.0001 5.86e-05 0 3.674e-05 0 3.257e-05 0 9.854e-05 0 0 0.0006 0.0003 6.742e-05 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +rs751077281 14 106791056 C A - IGHG1 5525 Immunoglobulin heavy constant gamma 1 (G1m marker) ENST00000619212.1 -1 1628 1422 ENSP00000483165 substitution upstream GRCh37 106791056 106791056 Chr14(GRCh37):g.106791056C>A -123023 -123023 ENST00000619212.1:c.-123023G>T p.? p.? 1 147100 -123069 5' 82.9382 5.88335 0.581934 0 82.9382 5.88335 0.581934 0 0 Cryptic Acceptor Strongly Activated 106791044 1.33617 8.9e-05 62.2048 2.74713 0.000489 68.2008 rs751077281 yes no Frequency 1 0.000000 0 0.000051 0.000212 0.000029 0.000000 0.000054 0.000033 0.000032 0.000039 0.000156 0.000212 14 5 1 0 1 1 4 1 1 272910 23550 34230 10032 18612 30698 123692 25700 6396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 5 1 0 1 1 4 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.992 0.125 189 PASS . . . . . . . . . . . ENSG00000211953:ENST00000390613:exon2:c.G300T:p.L100L . . . . 0.13402061 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5271 . . . . . . . . 6.293e-04 . . . 0.0051 0.0007 0.0007 0.0002 0 0.0001 0.0014 6.083e-05 0.0054 0.0006 0.0007 0.0001 0 7.393e-05 0 6.118e-05 synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000211953 abParts . . . dist\x3d46090\x3bdist\x3d147389 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.949e-05 2.993e-05 0 5.86e-05 0 2.756e-05 0.0002 3.258e-05 0 6.574e-05 0 0 0 0.0003 6.739e-05 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +. (chr14:106877816 AACT/A) 14 106877816 AACT A Not on a known gene +rs587600484 (chr14:106877822 T/C) 14 106877822 T C Not on a known gene +rs35005563 (chr14:106994009 G/T) 14 106994009 G T Not on a known gene +rs201179349 (chr14:106994010 C/T) 14 106994010 C T Not on a known gene +rs78367943 (chr14:106994011 T/C) 14 106994011 T C Not on a known gene +rs537009076 (chr14:106994181 T/C) 14 106994181 T C Not on a known gene +rs558607802 (chr14:106994182 A/G) 14 106994182 A G Not on a known gene +. (chr14:106994188 A/T) 14 106994188 A T Not on a known gene +. (chr14:106994195 AAATC/A) 14 106994195 AAATC A Not on a known gene +rs185275212 (chr14:106994209 T/C) 14 106994209 T C Not on a known gene +. (chr14:107049046 CTCAA/C) 14 107049046 CTCAA C Not on a known gene +rs782235534 (chr14:107049072 C/T) 14 107049072 C T Not on a known gene +. (chr14:107082881 T/TTAG) 14 107082881 T TTAG Not on a known gene +rs369382892 (chr14:107082882 G/A) 14 107082882 G A Not on a known gene +rs58653509 (chr14:107083602 C/T) 14 107083602 C T Not on a known gene +rs782227308 (chr14:107095452 A/T) 14 107095452 A T Not on a known gene +rs200817138 (chr14:107131305 A/T) 14 107131305 A T Not on a known gene +rs4931851 (chr15:20219371 T/C) 15 20219371 T C Not on a known gene +. (chr15:20317664 G/A) 15 20317664 G A Not on a known gene +. (chr15:20317687 C/T) 15 20317687 C T Not on a known gene +rs199759895 15 20657756 A G - HERC2P3 4871 Hect domain and RLD 2 pseudogene 3 XR_253333.1 -1 5077 0 substitution intron GRCh37 20657756 20657756 Chr15(GRCh37):g.20657756A>G 1396+848 1396+848 XR_253333.1:n.1396+848T>C p.? p.? 9 9 848 5' 82.9985 9.27414 0.985634 0.637595 82.9985 9.27414 0.985634 0.637595 0 rs199759895 yes no Frequency/1000G 2 0.000000 0 0.018171 0.051400 0.004100 0.003000 0.004000 0.017300 0.000075 0.000663 0.000030 0.000000 0.000000 0.000000 0.000033 0.000000 0.000160 0.000663 20 14 1 0 0 0 4 0 1 266628 21130 32976 9994 18610 30126 122438 25114 6240 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 14 1 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4249238 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 1.000 2.788 190 PASS . . . . . 0.051 0.018 0.017 0.003 0.004 0.0041 . . . . . 0.13636364 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L703|HERC2P3|Non-coding_transcript|NON_CODING|NR_036432|NR_036432.ex.15) . . . . . . . 0.6716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0182 . . . 0.66 0.54 182 ENSG00000180229 HERC2P3 HERC2P3 . . . . . . 8 0.000123122 64976 0 0 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199759895 0.033 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 0 0 0 0 0 0 0 0 0 0.0020 0.0007 0.0013 0 0 0 0.0003 0.0011 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . 0.033 rs430500 rs430500 rs430500 rs199759895 1 1538 10 1/0 0,255,255 +rs748658535 15 20658646 G C - HERC2P3 4871 Hect domain and RLD 2 pseudogene 3 XR_253333.1 -1 5077 0 substitution exon GRCh37 20658646 20658646 Chr15(GRCh37):g.20658646G>C 1354 1354 XR_253333.1:n.1354C>G 9 -43 5' 82.9985 9.27414 0.985634 0.637595 82.9985 9.27414 0.985634 0 0 rs748658535 yes no Frequency 1 0.000000 0 0.006750 0.014911 0.014154 0.011156 0.002680 0.009061 0.003180 0.000375 0.008097 0.014911 350 111 89 11 19 38 69 1 12 51852 7444 6288 986 7090 4194 21700 2668 1482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 350 111 89 11 19 38 69 1 12 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5956311 Haematopoietic and lymphoid tissue 0.000283 3530 transversion C G C>G 1.000 2.223 188 PASS . . . . . . . . . . . . . . . . 0.13084112 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R670G|HERC2P3|Non-coding_transcript|NON_CODING|NR_036432|NR_036432.ex.14) . . . . . . . 1.0118 . . . . . . . . 4.951e-05 . . . 0.0098 0.0014 0 0 0 0 0 0 0.0167 0.0055 0 0 0 0 . 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000180229 HERC2P3 HERC2P3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs748658535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 0.0227 0.0085 0.0150 0.0131 0.0029 0.0013 0.0046 0.0118 0.0091 0.0087 0.0028 0.0025 0 0.0010 0 0.0009 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 15 20658666 G A - HERC2P3 4871 Hect domain and RLD 2 pseudogene 3 XR_253333.1 -1 5077 0 substitution exon GRCh37 20658666 20658666 Chr15(GRCh37):g.20658666G>A 1334 1334 XR_253333.1:n.1334C>T 9 -63 5' 82.9985 9.27414 0.985634 0.637595 82.9985 9.27414 0.985634 0 0 Cryptic Acceptor Weakly Activated 20658652 2.99912 0.390873 78.1273 3.79393 0.39503 80.9001 0.004018 0.008994 0.008341 0.005814 0.001255 0.005505 0.001776 0.000379 0.005184 0.008994 243 74 69 7 10 28 45 1 9 60472 8228 8272 1204 7970 5086 25334 2642 1736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243 74 69 7 10 28 45 1 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 3.918 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A663V|HERC2P3|Non-coding_transcript|NON_CODING|NR_036432|NR_036432.ex.14) . . . . . . . 1.0083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000180229 HERC2P3 HERC2P3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 0.0125 0.0047 0.0084 0.0066 0.0013 0.0011 0.0023 0.0071 0.0055 0.0057 0.0021 0.0079 0 0.0010 0 0.0007 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 15 20658754 C G - HERC2P3 4871 Hect domain and RLD 2 pseudogene 3 XR_253333.1 -1 5077 0 substitution exon GRCh37 20658754 20658754 Chr15(GRCh37):g.20658754C>G 1246 1246 XR_253333.1:n.1246G>C 9 2 3' 85.0781 5.45203 0.421055 0 85.0781 5.39187 0.508039 0 0.0651841 0.000515 0.002317 0.000368 0.000000 0.000452 0.000000 0.000210 0.000000 0.000000 0.002317 40 25 4 0 4 0 7 0 0 77718 10790 10860 1506 8852 6026 33268 4266 2150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 25 4 0 4 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 1.000 3.918 177 PASS . . . . . . . . . . . . . . . . 0.10638298 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 141.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E634Q|HERC2P3|Non-coding_transcript|NON_CODING|NR_036432|NR_036432.ex.14) . . . . . . . I.70 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000180229 HERC2P3 HERC2P3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.87 0 7.021e-05 0.0002 0 0.0001 0 4.427e-05 0 0 0.0044 0.0017 0.0046 0 0.0023 0 0.0006 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +rs2930402 15 20741729 T C - GOLGA6L6 37225 Golgin A6 family-like 6 NM_001145004.1 -1 4091 2253 NP_001138476.1 A8MZA4 substitution missense exon GRCh37 20741729 20741729 Chr15(GRCh37):g.20741729T>C 673 673 NM_001145004.1:c.673A>G p.Lys225Glu p.Lys225Glu 7 35 3' 67.5204 6.73699 0.62253 5.34337 67.5204 6.73699 0.62253 5.72725 0 Tropomyosin rs2930402 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.992 0.205 K Lys AAA 0.425 E Glu GAA 0.417 225 5 2 Chimp 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 56.87 0.00 Tolerated 1 III.36 223 PASS . . . . . . . . . . . ENSG00000215405:ENST00000427390:exon7:c.A673G:p.K225E GOLGA6L6:uc001ytk.2:exon7:c.A673G:p.K225E UNKNOWN . . 0.225 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 40.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K213E|GOLGA6L6|mRNA|CODING|NM_001145004|NM_001145004.ex.8) . . . . . . . -1.7113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.39 0.37 182 ENSG00000215405 GOLGA6L6 GOLGA6L6 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.59 rs2930402 . . . . . . ID\x3dCOSM3932026\x3bOCCURENCE\x3d2(urinary_tract) . . . . . . . ENST00000427390 0.109 -0.218 . 1.000000 A8MZA4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.377 -1.377000 . . 1.000000 . . 1.0E-223 . . . . . . . . . -1.377 . . rs2930402 rs2930402 rs2930402 rs201329257 1 1538 10 1/0 0,255,255 +. 15 20769563 A G - GOLGA8CP 32375 Golgin A8 family, member C, pseudogene NR_027411.1 1 5282 0 substitution exon GRCh37 20769563 20769563 Chr15(GRCh37):g.20769563A>G 193 193 NR_027411.1:n.193A>G 2 21 3' 86.7764 9.42963 0.915264 7.16232 86.7764 9.42963 0.915264 7.24086 0 Cryptic Acceptor Weakly Activated 20769583 1.66287 0.002949 78.7432 1.74538 0.003232 78.7432 transition A G A>G 0.016 -0.037 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K65E|GOLGA8CP|Non-coding_transcript|NON_CODING|NR_027411|NR_027411.ex.2) . . . . . . . -0.2821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . . . . ENSG00000181984 GOLGA8CP GOLGA8CP . uc010tzc.1:c.-3649A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 21042575 C T - POTEB 33734 POTE ankyrin domain family, member B NM_001277304.1 -1 1687 1635 NP_001264233.1 H3BUK9 substitution missense exon GRCh37 21042575 21042575 Chr15(GRCh37):g.21042575C>T 1420 1420 NM_001277304.1:c.1420G>A p.Glu474Lys p.Glu474Lys 10 608912 -3 5' 74.3789 7.63011 0.39027 0 77.1269 7.63523 0.433593 0 0.0495418 Cryptic Donor Weakly Activated 21042573 7.63011 0.39027 74.3789 7.63523 0.433593 77.1269 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.941 0.932 E Glu GAG 0.583 K Lys AAG 0.575 474 11 4 Hoffmann's two-fingered sloth 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.23 II.92 255 PASS . . . . . . . . . . . ENSG00000230031:ENST00000454856:exon10:c.G1420A:p.E474K POTEB:uc031qqz.1:exon10:c.G1420A:p.E474K . . . 0.41666666 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.491 . @ . . . . . 1 0.275 . . 24.0 . . . . . . . . . . 0.4792 -0.080 0.479 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.200 @ . . . 0.43 0.68 182 ENSG00000230031 POTEB . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.206 0.008 . . 37 . . . . . . . . 0.663 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.187 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.231 . . . . . 0.177 . 0.348 . HET 0.75 . . . . . . . . . . . . . . . . . . . . . 0.0001 0.008 . . . 0.259 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-255 0.999 0.424 . 0.128 0.785 . 0.300 . 0.039 . 0.567 . . . rs79163811 rs138824591 1 1538 10 1/0 0,255,255 +. 15 21042575 C T - POTEB2 48327 POTE ankyrin domain family, member B2 NM_001277303.1 -1 1687 1635 NP_001264232.1 H3BUK9 substitution missense exon GRCh37 21042575 21042575 Chr15(GRCh37):g.21042575C>T 1420 1420 NM_001277303.1:c.1420G>A p.Glu474Lys p.Glu474Lys 10 -3 5' 74.3789 7.63011 0.39027 0 77.1269 7.63523 0.433593 0 0.0495418 Cryptic Donor Weakly Activated 21042573 7.63011 0.39027 74.3789 7.63523 0.433593 77.1269 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.941 0.932 E Glu GAG 0.583 K Lys AAG 0.575 474 11 4 Hoffmann's two-fingered sloth 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.12 II.92 255 PASS . . . . . . . . . . . ENSG00000230031:ENST00000454856:exon10:c.G1420A:p.E474K POTEB:uc031qqz.1:exon10:c.G1420A:p.E474K . . . 0.41666666 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.491 . @ . . . . . 1 0.275 . . 24.0 . . . . . . . . . . 0.4792 -0.080 0.479 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.200 @ . . . 0.43 0.68 182 ENSG00000230031 POTEB . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.206 0.008 . . 37 . . . . . . . . 0.663 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.187 . . 0 0 0 0 0 0 . . . . . . . . . . . 3 0.231 . . . . . 0.177 . 0.348 . HET 0.75 . . . . . . . . . . . . . . . . . . . . . 0.0001 0.008 . . . 0.259 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-255 0.999 0.424 . 0.128 0.785 . 0.300 . 0.039 . 0.567 . . . rs79163811 rs138824591 1 1538 10 1/0 0,255,255 +. 15 21066837 T A - POTEB 33734 POTE ankyrin domain family, member B NM_001277304.1 -1 1687 1635 NP_001264233.1 H3BUK9 substitution intron GRCh37 21066837 21066837 Chr15(GRCh37):g.21066837T>A 411-19 411-19 NM_001277304.1:c.411-19A>T p.? p.? 2 1 608912 -19 3' 80.7129 7.94346 0.892323 7.45466 80.7129 X.91 0.938044 IX.47 0.131454 Cryptic Acceptor Weakly Activated 21066818 7.94346 0.892323 80.7129 X.91 0.938044 80.7129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion A T A>T 0.016 0.690 250 PASS . . . . . . . . . . . . . . . . 0.30476192 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.2031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.31 182 ENSG00000230031 POTEB . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . rs4088568 . rs4088568 rs4088568 1 1538 10 1/0 0,244,255 +. 15 21066837 T A - POTEB2 48327 POTE ankyrin domain family, member B2 NM_001277303.1 -1 1687 1635 NP_001264232.1 H3BUK9 substitution intron GRCh37 21066837 21066837 Chr15(GRCh37):g.21066837T>A 411-19 411-19 NM_001277303.1:c.411-19A>T p.? p.? 2 1 -19 3' 80.7129 7.94346 0.892323 7.45466 80.7129 X.91 0.938044 IX.47 0.131454 Cryptic Acceptor Weakly Activated 21066818 7.94346 0.892323 80.7129 X.91 0.938044 80.7129 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transversion A T A>T 0.016 0.690 250 PASS . . . . . . . . . . . . . . . . 0.30476192 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . -0.2031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.31 182 ENSG00000230031 POTEB . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . rs4088568 . rs4088568 rs4088568 1 1538 10 1/0 0,244,255 +rs2605913 15 21071484 C T - POTEB 33734 POTE ankyrin domain family, member B NM_001277304.1 -1 1687 1635 NP_001264233.1 H3BUK9 substitution missense exon GRCh37 21071484 21071484 Chr15(GRCh37):g.21071484C>T 127 127 NM_001277304.1:c.127G>A p.Val43Met p.Val43Met 1 608912 -284 5' 78.4708 8.54931 0.916974 9.63902 78.4708 8.54931 0.916974 9.63902 0 rs2605913 no no 0 C 0.000000 0 0.005455 0.002636 0.002646 0.005952 0.013734 0.008528 0.006620 0.000728 0.009153 0.013734 131 7 16 2 32 19 45 2 8 24016 2656 6048 336 2330 2228 6798 2746 874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 7 16 2 32 19 45 2 8 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.047 0.125 V Val GTG 0.468 M Met ATG 1.000 43 11 5 Western lowland gorilla 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.14 II.99 176 PASS . . . . . . . . . . . . POTEB:uc031qqz.1:exon1:c.G127A:p.V43M . . . 0.104395606 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.345 . @ . . . . . 1 0.539 . . 182.0 . . . . . . . . . . -0.3611 -0.220 -0.361 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . @ . . . . . . ENSG00000230031 POTEB . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.402 0.018 . . 37 . . . . . . . . 0.361 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.276 . . . . . . . 0.171 . LowAF 0.11 rs140776964 . . . . . . . . . . . . . . . . . . . . . . . . . 0.027 . . . 0.0041 0.0073 0.0028 0.0068 0.0149 0.0088 0.0090 0.0134 0.0085 0 0 0 0 0 0 0 0 . . 0.133 . . . . . . . . 1.0E-176 0.005 0.169 . 0.138 . . 0.238 . 0.253 . . . . rs2605913 . . 1 1538 10 1/0 0,201,255 +rs2605913 15 21071484 C T - POTEB2 48327 POTE ankyrin domain family, member B2 NM_001277303.1 -1 1687 1635 NP_001264232.1 H3BUK9 substitution missense exon GRCh37 21071484 21071484 Chr15(GRCh37):g.21071484C>T 127 127 NM_001277303.1:c.127G>A p.Val43Met p.Val43Met 1 -284 5' 78.4708 8.54931 0.916974 9.63902 78.4708 8.54931 0.916974 9.63902 0 rs2605913 no no 0 C 0.000000 0 0.005455 0.002636 0.002646 0.005952 0.013734 0.008528 0.006620 0.000728 0.009153 0.013734 131 7 16 2 32 19 45 2 8 24016 2656 6048 336 2330 2228 6798 2746 874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 7 16 2 32 19 45 2 8 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.047 0.125 V Val GTG 0.468 M Met ATG 1.000 43 11 5 Western lowland gorilla 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0 IV.32 176 PASS . . . . . . . . . . . . POTEB:uc031qqz.1:exon1:c.G127A:p.V43M . . . 0.104395606 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.345 . @ . . . . . 1 0.539 . . 182.0 . . . . . . . . . . -0.3611 -0.220 -0.361 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.320 . . exonic exonic exonic . . . @ . . . . . . ENSG00000230031 POTEB . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.402 0.018 . . 37 . . . . . . . . 0.361 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.119 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.276 . . . . . . . 0.171 . LowAF 0.11 rs140776964 . . . . . . . . . . . . . . . . . . . . . . . . . 0.027 . . . 0.0041 0.0073 0.0028 0.0068 0.0149 0.0088 0.0090 0.0134 0.0085 0 0 0 0 0 0 0 0 . . 0.133 . . . . . . . . 1.0E-176 0.005 0.169 . 0.138 . . 0.238 . 0.253 . . . . rs2605913 . . 1 1538 10 1/0 0,201,255 +rs879110531 (chr15:21137110 A/C) 15 21137110 A C Not on a known gene +rs879037190 (chr15:21137122 T/C) 15 21137122 T C Not on a known gene +rs878917197 (chr15:21137131 A/G) 15 21137131 A G Not on a known gene +rs3900059 15 21187194 C G - LINC01193 28003 Long intergenic non-protein coding RNA 1193 NR_040094.1 1 3402 0 substitution exon GRCh37 21187194 21187194 Chr15(GRCh37):g.21187194C>G 602 602 NR_040094.1:n.602C>G 4 43 3' 84.2431 6.59077 0.477998 0 84.2431 6.59077 0.477998 0 0 rs3900059 no no 0 0.000000 0 0.004411 0.000000 0.002193 0.000000 0.004425 0.010490 0.002646 0.000000 0.000000 0.010490 14 0 1 0 1 9 3 0 0 3174 30 456 72 226 858 1134 264 134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 1 0 1 9 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.205 0.205 255 PASS . . . . . . . . . . . . . . . . 0.4347826 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 23.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tGc|S201C|LINC01193|Non-coding_transcript|NON_CODING|NR_040094|NR_040094.ex.4) . . . . . . . -0.2529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000258710 CT60 LINC01193 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0044 0.0022 0 0.0045 0 0.0011 0 0.0105 0 0.0043 0 0 0 0 0.0087 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3900059 rs3900059 rs3900059 rs3900059 1 1538 10 1/0 0,255,255 +. 15 21226095 T C - LINC01193 28003 Long intergenic non-protein coding RNA 1193 NR_040094.1 1 3402 0 substitution downstream GRCh37 21226095 21226095 Chr15(GRCh37):g.21226095T>C *27462 *27462 NR_040094.1:n.*27462T>C p.? p.? 5 30147 3' 73.836 V.75 0.120946 4.00954 73.836 V.75 0.120946 4.00954 0 transition T C T>C 0.161 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.6296296 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.57 0.23 182 ENSG00000259698 . . . dist\x3d27462\x3bdist\x3d100115 dist\x3d27462\x3bdist\x3d706419 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4931851 rs4931851 rs4931851 rs4931851 1 1538 10 1/0 0,255,255 +. (chr15:21236688 C/T) 15 21236688 C T Not on a known gene +. (chr15:21286279 C/G) 15 21286279 C G Not on a known gene +. (chr15:21286298 G/A) 15 21286298 G A Not on a known gene +rs202073419 (chr15:21369596 G/A) 15 21369596 G A Not on a known gene +rs200063810 (chr15:21369644 C/T) 15 21369644 C T Not on a known gene +. (chr15:21369657 C/T) 15 21369657 C T Not on a known gene +rs4984040 15 22016562 T A - CXADRP2 33973 Coxsackie virus and adenovirus receptor pseudogene 2 NR_024387.1 -1 2476 0 substitution exon GRCh37 22016562 22016562 Chr15(GRCh37):g.22016562T>A 317 317 NR_024387.1:n.317A>T 1 rs4984040 yes no Frequency 1 A 0.000000 0 0.000106 0.001038 0.000000 0.000896 0.000092 0.000000 0.000101 0.000000 0.000000 0.001038 18 4 0 5 1 0 8 0 0 169548 3852 25878 5582 10888 22434 79326 17550 4038 0.000071 0.001038 0.000000 0.000358 0.000000 0.000000 0.000076 0.000000 0.000000 6 2 0 1 0 0 3 0 0 6 0 0 3 1 0 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.992 0.609 187 PASS . . . . . . . . . . . . CXADRP2:uc010tzk.1:exon1:c.A155T:p.N52I . . . 0.12941177 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 85.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aTt|N106I|CXADRP2|Non-coding_transcript|NON_CODING|NR_024387|NR_024387.ex.1) . . . . . . . -0.6853 . . . . . . . . 1.198e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.43 0.17 182 ENSG00000258712 CXADRP2 CXADRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs143210112 0.554 0.601 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0001 0 0.0009 9.99e-05 0 0.0001 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . 0.55 . rs4984040 rs4984040 rs143210112 1 1538 10 1.I 0,0,0 +rs150931609 (chr15:22073156 T/C) 15 22073156 T C Not on a known gene +rs2458862 (chr15:22082620 C/T) 15 22082620 C T Not on a known gene +rs8040506 (chr15:22082624 A/G) 15 22082624 A G Not on a known gene +rs8040519 (chr15:22082645 A/G) 15 22082645 A G Not on a known gene +rs4429251 (chr15:22082652 G/T) 15 22082652 G T Not on a known gene +rs6599743 (chr15:22082680 G/A) 15 22082680 G A Not on a known gene +. (chr15:22082683 G/C) 15 22082683 G C Not on a known gene +. (chr15:22156884 C/T) 15 22156884 C T Not on a known gene +. (chr15:22198421 C/G) 15 22198421 C G Not on a known gene +rs141755137 (chr15:22280848 C/G) 15 22280848 C G Not on a known gene +. (chr15:22289613 G/A) 15 22289613 G A Not on a known gene +rs71221838 15 22705330 T C - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution exon GRCh37 22705330 22705330 Chr15(GRCh37):g.22705330T>C 2294 2294 NR_027407.1:n.2294A>G 18 171 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 9.07338 0 New Acceptor Site 22705329 5.31793 0.301563 77.5339 rs71221838 yes no Frequency 1 T 0.000000 0 0.002680 0.000525 0.001666 0.000205 0.000159 0.004548 0.004001 0.000467 0.000277 0.004548 414 9 26 1 2 83 287 5 1 154466 17134 15608 4876 12544 18250 71734 10712 3608 0.001424 0.000117 0.000897 0.000000 0.000159 0.002301 0.002230 0.000000 0.000000 110 1 7 0 1 21 80 0 0 194 7 12 1 0 41 127 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.198 187 PASS . . . . . . . . . . . . . . . . 0.12790698 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K765R|GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|NR_027407.ex.18) . . . . . . . -0.4667 . . . . . . . . 3.033e-03 . . . 0.0012 0.0031 0.0013 0.0005 0 0.0037 0.0075 0.0052 0.0013 0.0035 0.0014 0.0004 0 0.0046 0.0074 0.0053 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.6 0.34 182 ENSG00000185182 GOLGA8DP GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs777387588 . . . . . . . . . . . . II.58 . . 0.798 -0.801 . 0.000000 F8WBT8 . . . . . . . . . 0.0007 0.0030 0.0017 0.0002 0.0002 0.0005 0.0044 0 0.0045 0.0004 0.0013 0.0013 0 0 0.0003 0.0023 0.0012 . . . . -0.264 -0.264000 . . 0.000000 . . 1.0E-187 . . . . . . . . . -0.264 . . rs62001513 rs62001513 rs62001513 rs112416247 1 1538 10 1/0 0,235,255 +. 15 22705680 G A - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution exon GRCh37 22705680 22705680 Chr15(GRCh37):g.22705680G>A 2029 2029 NR_027407.1:n.2029C>T 17 59 3' 83.1784 8.86152 0.7312 6.50969 83.1784 8.86152 0.7312 5.98182 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 618 208 20 4 0 0 254 112 20 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.079 -0.440 242 PASS . . . . . . . . . . . . . . . . 0.2784091 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 176.0 . . STOP_GAINED(HIGH|NONSENSE|Cag/Tag|Q677*|GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|NR_027407.ex.17) . . . . . . . -0.5403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000185182 GOLGA8DP GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . rs79267301 rs79267301 1 1538 10 1/0 0,218,255 +rs71243127 15 22707317 C T - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution intron GRCh37 22707317 22707317 Chr15(GRCh37):g.22707317C>T 1601-39 1601-39 NR_027407.1:n.1601-39G>A p.? p.? 13 12 -39 3' 77.054 7.99064 0.910228 X.42 77.054 7.99064 0.910228 IX.06 0 rs71243127 no no 0 C 0.000000 0 0.005166 0.001442 0.001340 0.009804 0.000000 0.000000 0.008965 0.002116 0.010922 0.009804 141 12 1 2 0 0 110 7 9 27294 8324 746 204 1618 0 12270 3308 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 141 12 1 2 0 0 110 7 9 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition G A G>A 0.000 0.286 197 PASS . . . . . . . . . . . . . . . . 0.15044248 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 226.0 . . INTRON(MODIFIER||||GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|) . . . . . . . -0.3035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000185182 abParts GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0052 0.0013 0.0098 0 0.0021 0.0090 0.0109 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . rs71243127 rs71243127 rs71243127 1 1538 10 1/0 0,196,255 +rs879998967 15 22712707 C T - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution intron GRCh37 22712707 22712707 Chr15(GRCh37):g.22712707C>T 433+122 433+122 NR_027407.1:n.433+122G>A p.? p.? 4 4 122 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.82154 0 rs879998967 no no 0 C 0.000000 0 0.000898 0.001550 0.000000 0.000000 0.000000 0.000000 0.000794 0.000000 0.004132 0.001550 6 3 0 0 0 0 2 0 1 6682 1936 264 48 70 0 2518 1604 242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition G A G>A 0.693 -0.037 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|) . . . . . . . -0.0932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000185182 abParts GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0009 0 0 0 0 0.0008 0.0041 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs4499203 rs4499203 rs4499203 rs4499203 1 1538 10 1/0 0,255,255 +rs2004047 15 22712917 G A - GOLGA8DP 32376 Golgin A8 family, member D, pseudogene NR_027407.1 -1 5339 0 substitution intron GRCh37 22712917 22712917 Chr15(GRCh37):g.22712917G>A 353-8 353-8 NR_027407.1:n.353-8C>T p.? p.? 4 3 -8 3' 72.9796 6.15874 0.205554 5.08816 74.7894 7.09835 0.214209 6.80977 0.073157 Cryptic Acceptor Weakly Activated 22712909 6.15874 0.205554 72.9796 7.09835 0.214209 74.7894 rs2004047 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 0 0 0 0 0 20 58 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 616 Genomes transition C T C>T 1.000 2.223 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . INTRON(MODIFIER||||GOLGA8DP|Non-coding_transcript|NON_CODING|NR_027407|) . . . . . . . 0.4460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000185182 abParts GOLGA8DP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 0 0 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs17137813 rs17137813 rs2004047 rs17137813 1 1538 10 1/0 0,213,255 +. 15 22739773 G A - GOLGA6L1 37444 Golgin A6 family-like 1 NM_001001413.3 1 3822 2007 NP_001001413.3 substitution missense exon GRCh37 22739773 22739773 Chr15(GRCh37):g.22739773G>A 523 523 NM_001001413.3:c.523G>A p.Gly175Arg p.Gly175Arg 5 51 3' 91.2922 8.96788 0.899956 8.10236 91.2922 8.96788 0.899956 7.85599 0 transition G A G>A 0.906 0.044 G Gly GGA 0.246 R Arg AGA 0.205 175 7 4 Macaque -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 235.38 39.51 Tolerated 0.5 II.90 bad 8.973E-5 0.6086 179 PASS . . . . . . . . . . . . GOLGA6L1:uc010tzx.1:exon5:c.G523A:p.G175R . . . 0.11111111 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.169 . @ . . . . . 1 0.278 . . 90.0 . . . . . . . . . . -0.5699 -0.780 -0.570 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000197414 GOLGA6L1 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.182 . . 0.314 . . . 0.618 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.249 . LowAF 0.19 . . . . . . . . . . . . . . . . . . . 0.550000 . . . . . . 0.129 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.149 0.149000 . . 0.550000 . . 1.0E-179 0.074 0.220 . 0.043 0.073 . 0.304 . 0.269 0.149 0.589 . . . . . 1 1538 10 1/0 0,232,255 +. 15 23261355 A C - GOLGA8IP 26660 Golgin A8 family, member I, pseudogene NR_024074.1 1 1899 0 substitution exon GRCh37 23261355 23261355 Chr15(GRCh37):g.23261355A>C 1134 1134 NR_024074.1:n.1134A>C 10 -40 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.93941 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60934 5480 11114 1532 7622 6612 26018 880 1676 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 156 Exomes transversion A C A>C 0.969 -0.198 204 PASS . . . . . . . . . . . ENSG00000153666:ENST00000450802:exon11:c.A835C:p.K279Q GOLGA8I:uc001yvh.1:exon10:c.A592C:p.K198Q . . . 0.17073171 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 82.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R378S|GOLGA8IP|Non-coding_transcript|NON_CODING|NR_024074|NR_024074.ex.10) . . . . . . . -0.9079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.29 0.23 182 ENSG00000153666 GOLGA8I GOLGA8IP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.08 . . . . . . . . . . . . . II.01 . ENST00000450802 0.83 -0.209 . 0.110000 Q8NA68 . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -0.051 -0.051000 . . 0.110000 . . 1.0E-204 . . . . . . . . . -0.051 . . . . . . 1 1538 10 1/0 0,241,255 +. 15 23261364 A T - GOLGA8IP 26660 Golgin A8 family, member I, pseudogene NR_024074.1 1 1899 0 substitution exon GRCh37 23261364 23261364 Chr15(GRCh37):g.23261364A>T 1143 1143 NR_024074.1:n.1143A>T 10 -31 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.69252 0 transversion A T A>T 0.984 -0.602 190 PASS . . . . . . . . . . . ENSG00000153666:ENST00000450802:exon11:c.A844T:p.R282W GOLGA8I:uc001yvh.1:exon10:c.A601T:p.R201W . . . 0.13483146 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R381S|GOLGA8IP|Non-coding_transcript|NON_CODING|NR_024074|NR_024074.ex.10) . . . . . . . -1.1276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.31 182 ENSG00000153666 GOLGA8I GOLGA8IP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.03 . . . . . . . . . . . . . V.67 . ENST00000450802 0.83 -1.66 . 0.020000 Q8NA68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.828 -0.828000 . . 0.020000 . . 1.0E-190 . . . . . . . . . -0.828 . . . . rs78373466 rs78373466 1 1538 10 1/0 0,234,255 +rs763191144 15 23263584 C A - GOLGA8IP 26660 Golgin A8 family, member I, pseudogene NR_024074.1 1 1899 0 substitution downstream GRCh37 23263584 23263584 Chr15(GRCh37):g.23263584C>A *841 *841 NR_024074.1:n.*841C>A p.? p.? 12 1310 3' 89.4439 8.02486 0.951885 10.925 89.4439 8.02486 0.951885 10.925 0 rs763191144 yes no Frequency 1 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000070 0.000000 0.000000 0.000070 8 0 0 0 0 0 8 0 0 245268 21430 31574 9664 17010 27654 114560 17404 5972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.992 1.497 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 66.0 . . DOWNSTREAM(MODIFIER||||GOLGA8IP|Non-coding_transcript|NON_CODING|NR_024074|) . . . . . . . 0.1509 . . . . . . . . 5.606e-05 . . . 0 0.0001 0 0 0 0.0003 0 0 0 5.282e-05 0 0 0 0.0001 0 0 . . . . . . intronic downstream downstream . . . @ . . . . . . ENSG00000153666 . GOLGA8IP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs763191144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.264e-05 0 0 0 0 7.024e-05 0 0 0 3.243e-05 0 0 0 0 6.712e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 23264202 T TC - GOLGA8IP 26660 Golgin A8 family, member I, pseudogene NR_024074.1 1 1899 0 duplication downstream GRCh37 23264207 23264208 Chr15(GRCh37):g.23264207dup *1464 *1464 NR_024074.1:n.*1464dup p.? p.? 12 1933 3' 89.4439 8.02486 0.951885 10.925 89.4439 8.02486 0.951885 10.925 0 rs758703615 no no 0 0.000000 0 0.005303 0.013578 0.005410 0.001590 0.002668 0.007486 0.002769 0.001054 0.007331 0.013578 360 147 56 2 20 43 73 4 15 67884 10826 10352 1258 7496 5744 26368 3794 2046 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000152 0.000000 0.000000 2 0 0 0 0 0 2 0 0 356 147 56 2 20 43 69 4 15 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.18947369 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 95 . . DOWNSTREAM(MODIFIER||||GOLGA8IP|Non-coding_transcript|NON_CODING|NR_024074|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intergenic . . . . . . . . . . ENSG00000153666 JB175342\x3bDQ572979 . . . dist\x3d1459\x3bdist\x3d18063 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs758703615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0179 0.0061 0.0057 0.0018 0.0031 0.0047 0.0036 0.0088 0.0075 0.0102 0.0037 0.0016 0 0 0.0003 0.0014 0.0044 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs5811602 rs5811602 1 1538 10 1.I 0,7,72 +. 15 23310083 G C - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23310083 23310083 Chr15(GRCh37):g.23310083G>C 3790 3790 NR_002824.3:n.3790C>G 24 65 3' 85.6412 8.75571 0.963013 X.03 85.6412 8.75571 0.963013 X.43 0 New Donor Site 23310084 3.99481 0.132128 78.1021 transversion C G C>G 1.000 3.918 220 PASS . . . . . . . . . . . . . . . . 0.21621622 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Gtc|L1264V|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.24) . . . . . . . 1.1638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . . . . ENSG00000140181 . HERC2P2 . dist\x3d45136\x3bdist\x3d1792 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs4966390 15 23318617 A G - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23318617 23318617 Chr15(GRCh37):g.23318617A>G 2498 2498 NR_002824.3:n.2498T>C 17 -94 5' 71.0434 7.04051 0.873797 3.89408 71.0434 7.04051 0.873797 3.89408 0 rs4966390 yes no Frequency 1 A 0.000000 0 0.000134 0.000343 0.000032 0.000000 0.000000 0.000115 0.000164 0.000069 0.000361 0.000343 31 6 1 0 0 3 18 1 2 231764 17502 31416 8590 18254 26196 109752 14520 5534 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 6 1 0 0 3 18 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.780 -1.651 206 PASS . . . . . . . . . . . . HERC2P2:uc001yvr.2:exon15:c.T2007C:p.P669P . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L833P|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.17) . . . . . . . 0.3413 . . . . . . . . 3.470e-05 . . . 0 6.037e-05 0 0 0 4.572e-05 0 0.0002 0 4.907e-05 0 0 0 3.262e-05 0 0.0002 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.67 0.51 182 ENSG00000140181 HERC2P2 HERC2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200914013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.413e-05 0 0 0 0 1.025e-05 0.0002 0.0001 0.0010 0.0011 0.0015 0 0 0.0003 0.0014 0.0013 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs4966390 rs4966390 rs4966390 rs200914013 1 1538 10 1/0 0,255,255 +rs4966389 15 23318623 C T - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23318623 23318623 Chr15(GRCh37):g.23318623C>T 2492 2492 NR_002824.3:n.2492G>A 17 89 3' 75.7865 IV.81 0.445027 0 75.7865 IV.81 0.445027 0 0 rs4966389 yes no Frequency 1 C 0.000000 0 0.000080 0.000164 0.000000 0.000000 0.000000 0.000037 0.000124 0.000067 0.000000 0.000164 19 3 0 0 0 1 14 1 0 237562 18272 31850 8762 18404 26930 112784 14876 5684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 3 0 0 0 1 14 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.480 -2.054 230 PASS . . . . . . . . . . . . HERC2P2:uc001yvr.2:exon15:c.G2001A:p.T667T . . . 0.25 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 28.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R831Q|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.17) . . . . . . . 0.1372 . . . . . . . . 1.731e-05 . . . 0 1.747e-05 0 0 0 0 0 8.859e-05 0 1.417e-05 0 0 0 0 0 8.9e-05 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.64 0.36 182 ENSG00000140181 HERC2P2 HERC2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202028660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.705e-06 0 0 0 0 0 0 3.713e-05 0.0005 0.0007 0 0 0 0.0003 0.0011 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs4966389 rs4966389 rs4966389 rs202028660 1 1538 10 1/0 0,255,255 +rs393808 15 23318668 G A - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23318668 23318668 Chr15(GRCh37):g.23318668G>A 2447 2447 NR_002824.3:n.2447C>T 17 44 3' 75.7865 IV.81 0.445027 0 75.7865 IV.81 0.445027 0 0 Cryptic Acceptor Strongly Activated 23318648 3.44406 0.559005 81.4893 3.87129 0.624931 81.4893 rs393808 yes no Frequency/1000G 2 A 0.000000 0 0.039736 0.077900 0.056200 0.006000 0.018900 0.023100 0.000106 0.000256 0.000093 0.000111 0.000000 0.000000 0.000120 0.000196 0.000000 0.000256 26 5 3 1 0 0 14 3 0 244888 19560 32206 8992 18452 27784 116780 15272 5842 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 5 3 1 0 0 14 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.732 -0.037 255 PASS . . . . . 0.078 0.04 0.023 0.006 0.019 0.056 . HERC2P2:uc001yvr.2:exon15:c.C1956T:p.A652A . . . 0.43333334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 30.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P816L|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.17) . . . . . . . 0.4897 . . . . . . . . 1.855e-04 . . . 0.0004 5.054e-05 9.379e-05 0 0 0 0 0 0.0003 3.126e-05 9.658e-05 0 0 0 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.68 0.45 182 ENSG00000140181 HERC2P2 HERC2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199970962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.563e-06 3.173e-05 0 0 0 0 0 0 0.0008 0.0010 0.0029 0.0039 0 0.0010 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs393808 rs393808 rs393808 rs199970962 1 1538 10 1/0 0,255,255 +rs567524280 15 23330017 G T - HERC2P2 4870 Hect domain and RLD 2 pseudogene 2 NR_002824.3 -1 6075 0 substitution exon GRCh37 23330017 23330017 Chr15(GRCh37):g.23330017G>T 1552 1552 NR_002824.3:n.1552C>A 11 -60 5' 91.6164 10.0647 0.997746 0 91.6164 10.0647 0.997746 0 0 rs567524280 yes no Frequency/1000G 2 G 0.001997 T 10 0.001997 0.006800 0.000000 0.001000 0.000000 0.000000 0.000064 0.000754 0.000000 0.000000 0.000111 0.000000 0.000000 0.000000 0.000000 0.000754 5 4 0 0 1 0 0 0 0 77908 5306 10708 1522 8998 5968 35944 7262 2200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 1.000 4.322 205 PASS . . . . . 0.0068 0.002 . 0.001 . . . HERC2P2:uc001yvr.2:exon9:c.C1061A:p.S354Y . . . 0.1764706 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 34.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Att|L518I|HERC2P2|Non-coding_transcript|NON_CODING|NR_002824|NR_002824.ex.11) . . . . . . . 0.3306 . . . . . . . . 3.725e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0020 . . . . . . ENSG00000140181 HERC2P2 HERC2P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 rs567524280 . . . . . . . . . . . . XI.15 . ENST00000422607 II.35 II.35 . 0.040000 E7EMG2 . . . . . . . . II.35 0 1.673e-05 0 0 0.0001 0 0 0 0 0.0017 0.0002 0 0 0 0 0 0 . . . . 1.313 1.313000 . . 0.040000 . . 1.0E-205 . . . . . . . . . 1.313 . . . . . . 1 1538 10 1/0 0,255,255 +. 15 23437962 A T - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution exon GRCh37 23437962 23437962 Chr15(GRCh37):g.23437962A>T 426 426 NR_033350.1:n.426A>T 4 -8 5' 82.032 8.84552 0.984054 6.38831 82.032 8.84552 0.984054 6.28561 0 Cryptic Acceptor Strongly Activated 23437975 0.000121 63.3811 0.70769 0.002093 69.1897 0.000045 0.000251 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000251 1 1 0 0 0 0 0 0 0 22082 3986 666 200 1462 0 11752 3276 740 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion A T A>T 1.000 1.739 195 PASS . . . . . . . . . . . . . . . . 0.14893617 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . . . . . . . . . 0.1983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . @ . . . . . . ENSG00000175676 GOLGA8EP GOLGA8EP . uc001yvu.3:c.-2648A>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.529e-05 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs600532 15 23439394 G A - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution intron GRCh37 23439394 23439394 Chr15(GRCh37):g.23439394G>A 878+37 878+37 NR_033350.1:n.878+37G>A p.? p.? 6 6 37 5' 79.9214 6.03361 0.522429 4.41359 79.9214 6.03361 0.522429 3.98762 0 rs600532 no no 0 G 0.000000 0 0.000386 0.000243 0.000000 0.000000 0.000000 0.000000 0.000677 0.000000 0.000000 0.000677 11 2 0 0 0 0 9 0 0 28494 8238 780 218 1594 0 13298 3478 888 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transition G A G>A 0.000 0.125 213 PASS . . . . . . . . . . . . . . . . 0.19384615 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 325.0 . . . . . . . . . . -0.5513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000175676 GOLGA8EP GOLGA8EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs600532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0004 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs600532 rs600532 . . 1 1538 10 1/0 0,184,255 +rs201826349 15 23443505 C T - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution exon GRCh37 23443505 23443505 Chr15(GRCh37):g.23443505C>T 1606 1606 NR_033350.1:n.1606C>T 13 6 3' 77.054 7.99064 0.926121 X.95 77.054 7.99064 0.910228 10.1756 -0.00572027 rs201826349 yes no Frequency/1000G 2 C 0.000000 0 0.009784 0.022700 0.008200 0.003000 0.003000 0.007200 0.001918 0.001579 0.001931 0.006757 0.002874 0.001299 0.001769 0.000375 0.002341 0.006757 438 19 59 59 51 35 196 6 13 228322 12032 30550 8732 17748 26948 110772 15986 5554 0.000692 0.000332 0.000786 0.003207 0.000676 0.000668 0.000596 0.000000 0.001080 79 2 12 14 6 9 33 0 3 280 15 35 31 39 17 130 6 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1477947 Central nervous system 0.000424 2361 transition C T C>T 0.000 0.125 222 PASS . . . . . 0.023 0.0098 0.0072 0.003 0.003 0.0082 . GOLGA8EP:uc001yvu.3:exon13:c.C591T:p.R197R . . . 0.22033899 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 59.0 . . . . . . . . . . -0.4040 . . . . . . . . 1.120e-03 . . . 0 0.0006 0.0003 0 0 0.0010 0 0.0005 0 0.0004 0.0003 0 0 0.0006 0 0.0005 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0098 . . . 0.59 0.1 182 ENSG00000175676 GOLGA8EP GOLGA8EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201826349 . . . . . . ID\x3dCOSM1477947\x3bOCCURENCE\x3d1(breast) . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0016 0.0018 0.0062 0.0031 0 0.0013 0.0023 0.0013 0.0033 0.0047 0.0061 0.0242 0.0007 0.0020 0.0060 0.0026 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . rs71243128 rs71243128 rs201826349 1 1538 10 1/0 0,255,255 +rs77860555 15 23443548 C T - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution exon GRCh37 23443548 23443548 Chr15(GRCh37):g.23443548C>T 1649 1649 NR_033350.1:n.1649C>T 13 -28 5' 83.8893 X.72 0.713715 6.96286 83.8893 X.72 0.713715 6.26884 0 rs77860555 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.002300 0.003100 0.000000 0.001000 0.002900 0.000179 0.000484 0.000068 0.000000 0.000000 0.000000 0.000217 0.000548 0.000188 0.000548 39 5 2 0 0 0 23 8 1 217384 10332 29558 8532 17142 25790 106122 14586 5322 0.000037 0.000194 0.000068 0.000000 0.000000 0.000000 0.000019 0.000137 0.000000 4 1 1 0 0 0 1 1 0 31 3 0 0 0 0 21 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.953 0.367 186 PASS . . . . . 0.0023 0.0018 0.0029 . 0.001 0.0031 . GOLGA8EP:uc001yvu.3:exon13:c.C634T:p.L212L . . . 0.12820514 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 39.0 . . . . . . . . . . 0.1758 . . . . . . . . 1.611e-04 . . . 0 1.693e-05 0 0 0 3.536e-05 0 0 0 1.366e-05 0 0 0 2.557e-05 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.63 0.14 182 ENSG00000175676 GOLGA8EP GOLGA8EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs199944377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 5.02e-05 6.894e-05 0 0 0.0002 4.17e-05 0 0 0.0012 0.0016 0 0 0 0.0021 0.0019 0.0015 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71243129 rs71243129 rs199944377 1 1538 10 1/0 0,255,255 +rs200230621 15 23444085 G A - GOLGA8EP 32377 Golgin A8 family, member E, pseudogene NR_033350.1 1 5269 0 substitution exon GRCh37 23444085 23444085 Chr15(GRCh37):g.23444085G>A 1755 1755 NR_033350.1:n.1755G>A 14 -14 5' 81.0413 8.27203 0.900361 7.41626 81.0413 8.27203 0.900361 7.42357 0 rs200230621 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.005000 0.000000 0.001359 0.000281 0.000935 0.011150 0.000000 0.000781 0.001113 0.003344 0.002646 0.011150 136 4 11 19 0 5 45 45 7 100094 14260 11762 1704 9418 6406 40440 13458 2646 0.000020 0.000000 0.000000 0.001174 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 134 4 11 17 0 5 45 45 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 0.609 192 PASS . . . . . . 0.0014 . . 0.005 0.002 . GOLGA8EP:uc001yvu.3:exon14:c.G740A:p.S247N . . . 0.13945578 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 294.0 . . . . . . . . . . 0.1277 . . . . . . . . 2.456e-03 . . . 0 0.0022 0 0 0.0312 0.0030 0 0.0026 0 0.0016 0 0 0.0278 0 . 0.0027 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0014 . . . 0.46 0.14 182 ENSG00000175676 GOLGA8EP GOLGA8EP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0.05 rs200230621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0013 0.0010 0.0116 0 0.0029 0.0011 0.0012 0.0008 0.0003 0.0014 0 0.0082 0 0.0047 0.0012 0.0054 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs200230621 rs200230621 1 1538 10 1/0 0,183,255 +. (chr15:23570723 C/T) 15 23570723 C T Not on a known gene +. (chr15:23571274 A/T) 15 23571274 A T Not on a known gene +. (chr15:23574067 T/C) 15 23574067 T C Not on a known gene +. (chr15:23575924 C/T) 15 23575924 C T Not on a known gene +. (chr15:23579156 C/T) 15 23579156 C T Not on a known gene +rs543206777 15 23602871 G A - GOLGA8S 44409 Golgin A8 family member S NM_001355465.1 1 5572 1239 NP_001342394.1 substitution intron GRCh37 23602871 23602871 Chr15(GRCh37):g.23602871G>A -502 -502 NM_001355465.1:c.-607+105G>A p.? p.? 4 4 105 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.82154 0 rs543206777 yes no Frequency/1000G 2 G 0.000000 0 0.013179 0.001500 0.048100 0.000000 0.012900 0.005800 0.007546 0.002478 0.003836 0.007937 0.000627 0.000000 0.007858 0.021891 0.009050 0.021891 216 20 3 2 1 0 107 75 8 28626 8070 782 252 1596 0 13616 3426 884 0.027778 0.000000 0.000000 0.000000 0.000000 0.000000 0.018692 0.053333 0.000000 6 0 0 0 0 0 2 4 0 204 20 3 2 1 0 103 67 8 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition G A G>A 0.409 -0.117 220 PASS . . . . . 0.0015 0.013 0.0058 . 0.013 0.048 . . . . . 0.21621622 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||GOLGA8S|Non-coding_transcript|NON_CODING|NR_038843|) . . . . . . . -0.1736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0132 . . . . . . ENSG00000261739 GOLGA8S GOLGA8S . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs543206777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0075 0.0038 0.0079 0.0006 0.0219 0.0079 0.0090 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs368498592 15 23605924 C A - GOLGA8S 44409 Golgin A8 family member S NM_001355465.1 1 5572 1239 NP_001342394.1 substitution missense exon GRCh37 23605924 23605924 Chr15(GRCh37):g.23605924C>A 197 197 NM_001355465.1:c.197C>A p.Thr66Lys p.Thr66Lys 10 -39 5' 81.5823 8.90513 0.917225 7.12385 81.5823 8.90513 0.917225 6.31622 0 rs368498592 yes no Frequency 1 0.000000 0 0.000483 0.001009 0.000379 0.000402 0.000904 0.000364 0.000364 0.000632 0.000315 0.001009 131 23 13 4 17 11 45 16 2 271200 22806 34264 9954 18796 30180 123546 25304 6350 0.000059 0.000175 0.000000 0.000201 0.000000 0.000133 0.000032 0.000079 0.000000 8 2 0 1 0 2 2 1 0 115 19 13 2 17 7 41 14 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.898 -1.893 T Thr ACG 0.116 K Lys AAG 0.575 66 12 1 -1 -1 -1 0.71 0.33 8.VI 11.III 61 119 78 C0 246.10 0.00 Tolerated 0.25 3.I 181 PASS . . . . . . . . . . . ENSG00000261739:ENST00000562295:exon11:c.C836A:p.T279K . . . . 0.116883114 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.119 . @ . . . . . 1 0.084 . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R404S|GOLGA8S|Non-coding_transcript|NON_CODING|NR_038843|NR_038843.ex.10) . . . . . . . -0.4558 -0.221 -0.456 n . . . . . 7.737e-04 . . . 0.0011 0.0006 8.732e-05 0.0009 0.0011 0.0005 0 0.0006 0.0010 0.0006 9.003e-05 0.0008 0.0009 0.0005 0 0.0006 nonsynonymous_SNV . . 0.205 . . exonic ncRNA_exonic ncRNA_exonic . . 0.109 @ . . . 0.48 0.34 182 ENSG00000261739 GOLGA8S GOLGA8S . . . 0.000 0.029 . 33 0.00050788 64976 30 0.000500117 59986 . . 0 . . . . . . T 0.004 0.001 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 . . . . . . 0 . . . . . . . . . . . . 0 0.192 . . . . . 0.032 . 0.106 . LowAF 0.5 rs368498592 . . . . . . . . . . . . . . . . . . . . . . . . . 0.007 . . . 0.0006 0.0004 0.0003 0.0004 0.0009 0.0005 0.0003 0.0002 0.0004 0.0018 0.0012 0.0025 0 0.0013 0.0015 0.0008 0.0011 . . 0.133 . . . . . . . . 1.0E-181 0.998 0.411 . 0.043 0.039 . 0.286 . 0.095 . -1.692 . rs619006 rs619006 rs619006 rs368498592 1 1538 10 1/0 0,239,255 +rs762882142 15 23608273 G A - GOLGA8S 44409 Golgin A8 family member S NM_001355465.1 1 5572 1239 NP_001342394.1 substitution intron GRCh37 23608273 23608273 Chr15(GRCh37):g.23608273G>A 541-39 541-39 NM_001355465.1:c.541-39G>A p.? p.? 13 12 -39 3' 77.054 7.99064 0.910228 X.42 77.054 7.99064 0.910228 IX.06 0 rs762882142 yes no Frequency 1 0.000000 0 0.001388 0.000803 0.001496 0.003682 0.000000 0.000340 0.002128 0.000243 0.003626 0.003682 104 10 17 5 0 2 61 1 8 74904 12460 11360 1358 8854 5888 28668 4110 2206 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104 10 17 5 0 2 61 1 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.528 207 PASS . . . . . . . . . . . . . . . . 0.17721519 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 158.0 . . INTRON(MODIFIER||||GOLGA8S|Non-coding_transcript|NON_CODING|NR_038843|) . . . . . . . -0.2139 . . . . . . . . 1.976e-04 . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.15 182 ENSG00000261739 GOLGA8S GOLGA8S . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762882142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0012 0.0034 0 0 0.0003 0.0021 0.0003 0.0013 0.0029 0.0053 0.0054 0 0.0003 0.0048 0.0063 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . rs71243127 rs71243127 rs71243127 1 1538 10 1/0 0,213,255 +. 15 23610121 G C - GOLGA8S 44409 Golgin A8 family member S NM_001355465.1 1 5572 1239 NP_001342394.1 substitution missense exon GRCh37 23610121 23610121 Chr15(GRCh37):g.23610121G>C 1079 1079 NM_001355465.1:c.1079G>C p.Ser360Thr p.Ser360Thr 18 16 3' 71.0765 XI.88 0.905549 9.57235 71.0765 XI.88 0.923578 9.57354 0.00663649 0.000183 0.000156 0.000172 0.000000 0.000000 0.000000 0.000292 0.000000 0.000416 0.000292 15 2 2 0 0 0 10 0 1 82010 12790 11602 1596 9168 6130 34192 4126 2406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 2 2 0 0 0 10 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.016 0.044 S Ser AGC 0.243 T Thr ACC 0.361 360 12 8 Zebrafish 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 217.19 X.95 Tolerated 0.09 3.I 185 PASS . . . . . . . . . . . ENSG00000261739:ENST00000562295:exon19:c.G1718C:p.S573T . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.150 . @ . . . . . 1 0.050 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A702P|GOLGA8S|Non-coding_transcript|NON_CODING|NR_038843|NR_038843.ex.18) . . . . . . . 0.0485 -0.159 0.048 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.248 . . exonic ncRNA_exonic ncRNA_exonic . . 0.179 @ . . . 0.3 0.11 182 ENSG00000261739 GOLGA8S GOLGA8S . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.035 0.002 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.481 . . . . . . 0 . . . . . . . . . . . . 0 0.367 . . . . . 0.143 . 0.067 . LowAF 0.08 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.189 . . . 0 3.622e-05 0.0002 0 0 0 0 0 0 0.0003 0.0005 0 0 0 0 0.0008 0.0012 . . 0.246 . . . . . . . . 1.0E-185 0.994 0.380 . 0.043 0.722 . 0.240 . 0.077 . 0.671 . . . rs79535266 rs79535266 1 1538 10 1/0 0,242,255 +rs190025566 15 23685017 C G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685017 23685017 Chr15(GRCh37):g.23685017C>G 2605 2605 NM_001304388.1:c.2605G>C p.Ala869Pro p.Ala869Pro 8 1813 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs190025566 no no 0 0.000000 0 0.000063 0.000000 0.000084 0.000000 0.000092 0.000000 0.000079 0.000187 0.000000 0.000187 10 0 2 0 1 0 5 2 0 157698 14134 23918 8214 10824 22300 63172 10700 4436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 2 0 1 0 5 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.004 0.528 A Ala GCA 0.226 P Pro CCA 0.274 869 12 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Tolerated 0.06 III.18 183 PASS . . . . . . . . . . . . LOC283685:uc021sfx.1:exon1:c.G177C:p.G59G GOLGA6L2:NM_001304388:exon8:c.G2605C:p.A869P . . 0.12 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.129 . @ . . . . . 1 0.031 . . 50.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Cca|A869P|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.7104 -0.936 -0.710 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV synonymous_SNV nonsynonymous_SNV 0.558 . . exonic exonic exonic . . 0.159 @ . . . 0.25 0.66 182 ENSG00000174450 LOC283685 GOLGA6L2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.027 0.002 . . 37 . 0.409 . . 0.332 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.170 . . . . . . . 0.068 . LowAF . rs190025566 . . . . . . . . . . . . . . ENST00000345070 0.476 0.476 . 0.270000 . . . . . . 0.043 . . . 0 4.587e-05 4.306e-05 0 0 0.0001 7.938e-05 0 0 0 0.0001 0.0014 0 0.0008 0.0003 7.823e-05 0 . . 0.133 . 0.501 0.501000 . . 0.270000 . . 1.0E-183 0.000 0.063 . 0.043 0.005 . 0.155 . 0.048 0.501 -0.653 . . . rs190025566 rs190025566 1 1538 10 1/0 0,255,255 +. 15 23685899 G A - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685899 23685899 Chr15(GRCh37):g.23685899G>A 1723 1723 NM_001304388.1:c.1723C>T p.Pro575Ser p.Pro575Ser 8 931 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 transition C T C>T 0.000 -14.080 P Pro CCA 0.274 S Ser TCA 0.148 575 12 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.09 III.33 179 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.C1723T:p.P575S . GOLGA6L2:NM_001304388:exon8:c.C1723T:p.P575S . . 0.11111111 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.232 . @ . . . . . 1 0.175 . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P575S|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3886 -0.110 -0.389 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.851 . . exonic upstream\x3bdownstream exonic . . . @ . . . 0.29 0.48 182 ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.272 0.010 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.131 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.097 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-179 0.000 0.063 . 0.074 0.065 . 0.049 . 0.016 . 0.557 . . . . . 1 1538 10 1/0 0,255,255 +rs796828035 15 23685904 A G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685904 23685904 Chr15(GRCh37):g.23685904A>G 1718 1718 NM_001304388.1:c.1718T>C p.Val573Ala p.Val573Ala 8 926 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs796828035 no no 0 0.000000 0 transition T C T>C 0.000 -14.080 V Val GTG 0.468 A Ala GCG 0.107 573 12 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.73 III.33 196 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.T1718C:p.V573A . GOLGA6L2:NM_001304388:exon8:c.T1718C:p.V573A . . 0.1521739 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.208 . @ . . . . . 1 0.097 . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V573A|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4023 -0.113 -0.402 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.857 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.399 0.018 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.088 . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-196 0.000 0.063 . 0.090 0.115 . 0.001 . 0.015 . 0.642 . . . . . 1 1538 10 1/0 0,255,255 +rs371459990 15 23685913 G C - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685913 23685913 Chr15(GRCh37):g.23685913G>C 1709 1709 NM_001304388.1:c.1709C>G p.Ala570Gly p.Ala570Gly 8 917 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs371459990 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 75362 3116 9812 5682 2604 14830 31182 6128 2008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 597 Exomes transversion C G C>G 0.000 -14.080 A Ala GCA 0.226 G Gly GGA 0.246 570 12 1 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.12 III.33 213 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.C1709G:p.A570G . GOLGA6L2:NM_001304388:exon8:c.C1709G:p.A570G . . 0.19642857 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.096 . @ . . . . . 1 0.064 . . 56.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gGa|A570G|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4094 -0.115 -0.409 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.839 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.366 0.016 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.123 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.065 . HET . rs371459990 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . . . . . . . . 1.0E-213 0.000 0.063 . 0.171 0.060 . 0.047 . 0.271 . 0.557 0.011 . . rs371459990 rs371459990 1 1538 10 1/0 0,255,255 +rs377626801 15 23685922 C T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685922 23685922 Chr15(GRCh37):g.23685922C>T 1700 1700 NM_001304388.1:c.1700G>A p.Gly567Glu p.Gly567Glu 8 908 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs377626801 no no 0 0.000000 0 transition G A G>A 0.000 -14.080 G Gly GGA 0.246 E Glu GAA 0.417 567 12 6 Zebrafish -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Deleterious 0.04 III.33 212 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.G1700A:p.G567E . GOLGA6L2:NM_001304388:exon8:c.G1700A:p.G567E . . 0.19298245 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.283 . @ . . . . . 1 0.075 . . 57.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G567E|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3359 -0.102 -0.336 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.888 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.337 0.014 . . 37 . . . . . . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.091 . HET . rs377626801 . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-212 0.077 0.221 . 0.117 0.019 . 0.218 . 0.036 . -0.677 . . . rs377626801 rs377626801 1 1538 10 1/0 0,255,255 +rs139434817 15 23685943 C T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685943 23685943 Chr15(GRCh37):g.23685943C>T 1679 1679 NM_001304388.1:c.1679G>A p.Gly560Glu p.Gly560Glu 8 887 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs139434817 yes no Frequency 1 0.000000 0 0.001116 0.000801 0.000065 0.000611 0.000110 0.000191 0.000922 0.010593 0.000392 0.010593 105 9 1 2 1 2 34 55 1 94106 11236 15432 3272 9064 10482 36880 5192 2548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105 9 1 2 1 2 34 55 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -14.080 G Gly GGA 0.246 E Glu GAA 0.417 560 12 2 Tetraodon -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 0.46 III.33 183 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.G1679A:p.G560E . GOLGA6L2:NM_001304388:exon8:c.G1679A:p.G560E . . 0.11940298 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.290 . @ . . . . . 1 0.076 . . 67.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G560E|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3353 -0.100 -0.335 n . . . . . 3.195e-03 . . . 0.0054 0.0138 0 0.0141 0.0714 0.0131 0.0556 0.0181 0.0123 0.0223 0 0.05 0.0417 0.0290 0.0455 0.0182 nonsynonymous_SNV . nonsynonymous_SNV 0.870 . . exonic upstream\x3bdownstream exonic . . . @ . . . 0.28 0.46 182 ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.026 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.092 . LowAF . rs139434817 . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . 0.0008 0.0013 6.644e-05 0.0007 0.0001 0.0142 0.0012 0.0005 0.0002 0.0008 0.0003 0 0 0 0 0.0002 0 . . 0.133 . . . . . . . . 1.0E-183 0.000 0.063 . 0.083 0.082 . 0.010 . 0.036 . 0.537 . . . rs201775197 rs201775197 1 1538 10 1/0 0,245,255 +rs765296034 15 23685946 A G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685946 23685946 Chr15(GRCh37):g.23685946A>G 1676 1676 NM_001304388.1:c.1676T>C p.Val559Ala p.Val559Ala 8 884 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs765296034 yes no Frequency 1 0.000000 0 0.000729 0.000656 0.000000 0.000240 0.000000 0.000000 0.000506 0.007695 0.000367 0.007695 74 7 0 1 0 0 20 45 1 101458 10668 16796 4174 9110 12602 39538 5848 2722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 74 7 0 1 0 0 20 45 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -14.080 V Val GTG 0.468 A Ala GCG 0.107 559 12 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Tolerated 0.13 III.33 195 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.T1676C:p.V559A . GOLGA6L2:NM_001304388:exon8:c.T1676C:p.V559A . . 0.14754099 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.208 . @ . . . . . 1 0.093 . . 61.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V559A|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4213 -0.116 -0.421 n . . . . . 3.178e-03 . . . 0.0042 0.0094 0 0.0167 0.1 0.0098 0.0286 0.0090 0.0089 0.0128 0 0.0263 0.0556 0.0183 0.0227 0.0091 nonsynonymous_SNV . nonsynonymous_SNV 0.850 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.245 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.115 . LowAF . rs765296034 . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 . . . 0.0005 0.0008 0 0.0003 0 0.0095 0.0006 0.0004 0 0.0009 0.0003 0 0 0 0 0.0001 0 . . 0.133 . . . . . . . . 9.999999999999999E-196 0.000 0.063 . 0.043 0.050 . 0.001 . 0.042 . -0.230 . . . . . 1 1538 10 1/0 0,252,255 +rs758363163 15 23685952 G T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685952 23685952 Chr15(GRCh37):g.23685952G>T 1670 1670 NM_001304388.1:c.1670C>A p.Ala557Glu p.Ala557Glu 8 878 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs758363163 yes no Frequency 1 0.000000 0 0.000162 0.000310 0.000000 0.000000 0.000000 0.000000 0.000142 0.001150 0.000000 0.001150 20 3 0 0 0 0 7 10 0 123192 9690 19284 6692 8322 17760 49412 8698 3334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 3 0 0 0 0 7 10 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -14.080 A Ala GCA 0.226 E Glu GAA 0.417 557 12 8 Frog -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 232.67 0.00 Tolerated 0.19 III.16 198 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.C1670A:p.A557E . GOLGA6L2:NM_001304388:exon8:c.C1670A:p.A557E . . 0.15492958 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.252 . @ . . . . . 1 0.025 . . 71.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gAa|A557E|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3895 -0.116 -0.390 n . . . . . 1.194e-03 . . . 0 0.0021 0 0.0039 0 0.0016 0.0079 0.0028 0 0.0027 0 0.0065 0 0.0026 0.0114 0.0028 nonsynonymous_SNV . nonsynonymous_SNV 0.862 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.335 0.014 . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.120 . HET . rs758363163 . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 . . . 0 0.0001 0 0 0 0.0013 7.123e-05 0 0 0.0008 0.0005 0 0 0 0 0.0005 0 . . 0.133 . . . . . . . . 1.0E-198 0.000 0.063 . 0.062 0.035 . 0.005 . 0.273 . -0.664 . . . . . 1 1538 10 1/0 0,246,255 +rs777884739 15 23685955 T C - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23685955 23685955 Chr15(GRCh37):g.23685955T>C 1667 1667 NM_001304388.1:c.1667A>G p.Glu556Gly p.Glu556Gly 8 875 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs777884739 yes no Frequency 1 0.000000 0 0.000048 0.000087 0.000000 0.000000 0.000000 0.000047 0.000034 0.000294 0.000000 0.000294 7 1 0 0 0 1 2 3 0 145978 11484 23030 7692 10454 21094 58012 10206 4006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 0 0 0 1 2 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -14.080 E Glu GAA 0.417 G Gly GGA 0.246 556 12 1 -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 243.06 24.28 Deleterious 0.04 III.16 204 PASS . . . . . . . . . . . ENSG00000174450:ENST00000567107:exon8:c.A1667G:p.E556G . GOLGA6L2:NM_001304388:exon8:c.A1667G:p.E556G . . 0.171875 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.108 . @ . . . . . 1 0.099 . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E556G|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4035 -0.118 -0.403 n . . . . . 9.746e-04 . . . 0 0.0017 0 0.0036 0 0.0013 0.0067 0.0022 0 0.0021 0 0.0057 0 0.0021 0.0096 0.0022 nonsynonymous_SNV . nonsynonymous_SNV 0.849 . . exonic upstream\x3bdownstream exonic . . . @ . . . . . . ENSG00000174450 LOC283685\x3bGOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.395 0.018 . . 37 . . . . . . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.501 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . 0.157 . HET . rs777884739 . . . . . . . . . . . . . . . . . . . . . . . . . 0.003 . . . 0 3.88e-05 0 0 0 0.0003 2.037e-05 0 4.741e-05 0.0002 0.0001 0 0 0 0 0.0001 0 . . 0.133 . . . . . . . . 1.0E-204 0.000 0.063 . 0.062 0.017 . 0.041 . 0.273 . -0.281 . . . . . 1 1538 10 1/0 0,252,255 +rs764109163 15 23686038 C G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution synonymous exon GRCh37 23686038 23686038 Chr15(GRCh37):g.23686038C>G 1584 1584 NM_001304388.1:c.1584G>C p.Gly528= p.Gly528Gly 8 792 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs764109163 yes no Frequency 1 0.000000 0 0.000065 0.000334 0.000000 0.000000 0.000000 0.000000 0.000045 0.000209 0.000000 0.000334 11 5 0 0 0 0 3 3 0 168734 14972 24604 8500 11572 22724 67366 14384 4612 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 5 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 0.528 G Gly GGG 0.250 G Gly GGC 0.342 528 179 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.G1548C:p.G516G GOLGA6L2:NM_001304388:exon8:c.G1584C:p.G528G . . 0.11320755 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggC|G528|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.3363 . . . . . . . . 9.754e-04 . . . 0.0014 0.0013 0.0033 0 0 0.0021 0 0.0006 0.0022 0.0012 0.0049 0 0 0.0020 0 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs764109163 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 4.266e-05 0 0 0 0.0003 1.873e-05 0 0 0.0004 0.0002 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . 0.011 . . . . 1 1538 10 1/0 0,254,255 +. 15 23686088 TCTC T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 deletion in-frame exon GRCh37 23686089 23686091 Chr15(GRCh37):g.23686089_23686091del 1531 1533 NM_001304388.1:c.1531_1533del p.Glu511del p.Glu511del 8 739 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs779250776 yes no Frequency 1 0.000000 0 0.000100 0.000859 0.000042 0.000000 0.000000 0.000044 0.000032 0.000000 0.000235 0.000859 16 11 1 0 0 1 2 0 1 159786 12800 24010 8446 10870 22526 63106 13778 4250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 11 1 0 0 1 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes GAG 255 Pass . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.1495_1497del:p.499_499del GOLGA6L2:NM_001304388:exon8:c.1531_1533del:p.511_511del . . 0.16666667 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 66 . . CODON_DELETION(MODERATE||gag/-|E511-|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . . . . . . . . . . 6.681e-05 . . . 0 5.928e-05 0 0 0 0.0001 0 0 0 7.679e-05 0 0 0 0.0003 0 0 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779250776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 4.286e-05 4.249e-05 0 0 0 0 0 4.439e-05 0.0012 0.0005 0 0 0 0 0.0002 0.0018 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,78 +rs68177477 15 23686113 C G - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686113 23686113 Chr15(GRCh37):g.23686113C>G 1509 1509 NM_001304388.1:c.1509G>C p.Gln503His p.Gln503His 8 717 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs68177477 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.002000 0.000000 0.000000 0.001400 0.000229 0.000336 0.000000 0.000000 0.000000 0.001154 0.000048 0.000000 0.000710 0.001154 36 4 0 0 0 26 3 0 3 156886 11896 24004 8404 10818 22526 62206 12808 4224 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 4 0 0 0 26 3 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.012 -0.844 Q Gln CAG 0.744 H His CAC 0.587 503 12 3 Mouse 1 0 1 0.89 0.58 10.V 10.IV 85 96 24 C0 353.86 0.00 Tolerated 0.09 III.37 201 PASS . . . . . . 0.0006 0.0014 . . 0.002 . GOLGA6L2:uc021sfy.1:exon8:c.G1473C:p.Q491H GOLGA6L2:NM_001304388:exon8:c.G1509C:p.Q503H . . 0.16176471 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.232 . @ . . . . . 1 0.182 . . 68.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q503H|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -1.2099 -1.376 -1.210 c . . . . . 4.077e-04 . . . 0 0.0007 0 0 0 0.0002 0 0.0013 0 0.0009 0 0 0 0.0003 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.862 . . exonic exonic exonic . . . 0.0006 . . . 0.21 0.53 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.278 0.011 . . 37 . 0.293 . . 0.168 . . . 0.346 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.102 . . 0.013 . . . . . . 0 0.390 . . . . . . . 0.253 . HET 0.01 rs140882803 0.022 0.014 . . . . . . . . . . . . . . . . 0.100000 Q8N9W4 . . . . . 0.009 . . . 0 0.0002 0 0 0 0 0 0.0003 0.0012 0.0008 0.0005 0 0 0 0 0.0003 0.0038 . . 0.133 . -0.914 -0.914000 . . 0.100000 . . 1.0E-201 0.002 0.151 . 0.062 0.012 . 0.297 . 0.272 -0.914 -0.653 0.022 . rs68177477 rs68177477 rs68177477 1 1538 10 1/0 0,248,255 +rs190888297 15 23686143 C T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution synonymous exon GRCh37 23686143 23686143 Chr15(GRCh37):g.23686143C>T 1479 1479 NM_001304388.1:c.1479G>A p.Leu493= p.Leu493Leu 8 687 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs190888297 yes no Frequency 1 0.000000 0 0.000111 0.000303 0.000000 0.000000 0.000267 0.000044 0.000124 0.000000 0.000454 0.000303 18 4 0 0 3 1 8 0 2 162278 13194 24438 8424 11240 22618 64518 13442 4404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 4 0 0 3 1 8 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.020 -0.440 L Leu CTG 0.404 L Leu CTA 0.070 493 189 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.G1443A:p.L481L GOLGA6L2:NM_001304388:exon8:c.G1479A:p.L493L . . 0.13432837 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 67.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L493|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.4008 . . . . . . . . 3.562e-05 . . . 0 6.729e-05 0 0 0 0 0 0.0001 0 8.797e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs190888297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.246e-06 0 0 0 0 0 0 4.421e-05 0.0006 0.0007 0 0 0.0026 0 0.0007 0.0028 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +rs76062343 15 23686157 G C - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686157 23686157 Chr15(GRCh37):g.23686157G>C 1465 1465 NM_001304388.1:c.1465C>G p.Gln489Glu p.Gln489Glu 8 673 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs76062343 no no 0 0.000000 0 0.000154 0.000287 0.000000 0.000000 0.000441 0.000000 0.000225 0.000178 0.000000 0.000441 22 3 0 0 4 0 13 2 0 142936 10438 21988 8128 9064 20588 57686 11242 3802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 3 0 0 4 0 13 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.051 0.528 Q Gln CAG 0.744 E Glu GAG 0.583 489 12 8 Zebrafish 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 353.86 0.00 Tolerated 0.3 III.32 197 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.C1429G:p.Q477E GOLGA6L2:NM_001304388:exon8:c.C1465G:p.Q489E . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.003 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Gag|Q489E|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -1.2640 -1.405 -1.264 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.859 . . exonic exonic exonic . . . @ . . . 0.28 0.64 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.195 0.007 . . 37 . 0.187 . . 0.320 . . . 0.041 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.059 . . 0 0 0 0 0 0 . 0.244 . . 0.285 . . . . . . 0 0.010 . . . . . . . 0.207 . HET 0.98 rs199834625 0.065 0.072 . . . . . . . . . . . . . . . . 1.000000 Q8N9W4 . . . . . 0.008 . . . 0 1.604e-05 0 0 0 0.0001 2.086e-05 0 0 0.0006 0.0011 0 0 0.0054 0.0006 0.0012 0 . . 0.133 . 0.482 0.482000 . . 1.000000 . . 1.0E-197 0.003 0.159 . 0.016 0.015 . 0.128 . 0.005 0.482 -0.230 0.065 . . rs76062343 rs76062343 1 1538 10 1/0 0,255,255 +rs75486959 15 23686162 T A - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686162 23686162 Chr15(GRCh37):g.23686162T>A 1460 1460 NM_001304388.1:c.1460A>T p.Glu487Val p.Glu487Val 8 668 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 New Donor Site 23686164 5.27991 0.411921 80.1385 rs75486959 no no 0 0.000000 0 0.000052 0.000000 0.000000 0.000000 0.000093 0.000000 0.000096 0.000083 0.000000 0.000096 8 0 0 0 1 0 6 1 0 155338 12474 23234 8350 10752 21524 62700 12090 4214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 1 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.020 0.448 E Glu GAG 0.583 V Val GTG 0.468 487 12 1 -3 -2 -4 0.92 0 12.III 5.IX 83 84 121 C0 353.86 0.00 Deleterious 0.02 III.32 202 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.A1424T:p.E475V GOLGA6L2:NM_001304388:exon8:c.A1460T:p.E487V . . 0.16666667 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.188 . @ . . . . . 1 0.008 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gTg|E487V|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -1.0229 -1.217 -1.023 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.864 . . exonic exonic exonic . . . @ . . . 0.33 0.67 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.141 0.005 . . 37 . 0.283 . . 0.157 . . . 0.033 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.018 . . 0 0 0 0 0 0 . 0.334 . . 0.322 . . . . . . 0 0.117 . . . . . . . 0.210 . HET 0.39 rs75486959 . . . . . . . . . . . . . . . . . . 0.390000 Q8N9W4 . . . . . 0.007 . . . 0 1.504e-05 0 0 0 0.0001 1.946e-05 0 0 0 0.0003 0 0 0.0010 0 0.0004 0 . . 0.133 . 0.402 0.402000 . . 0.390000 . . 1.0E-202 0.000 0.063 . 0.016 0.003 . 0.001 . 0.043 0.402 -0.599 . . . rs75486959 rs75486959 1 1538 10 1/0 0,255,255 +rs74565846 15 23686163 C T - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686163 23686163 Chr15(GRCh37):g.23686163C>T 1459 1459 NM_001304388.1:c.1459G>A p.Glu487Lys p.Glu487Lys 8 667 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs74565846 yes no Frequency 1 0.000000 0 0.000045 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000082 0.000000 0.000095 7 0 0 0 0 0 6 1 0 156300 12790 23326 8342 10720 21548 63152 12186 4236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.012 -0.844 E Glu GAG 0.583 K Lys AAG 0.575 487 12 1 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.14 III.32 210 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.G1423A:p.E475K GOLGA6L2:NM_001304388:exon8:c.G1459A:p.E487K . . 0.1875 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.189 . @ . . . . . 1 0.009 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E487K|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -1.3757 -1.531 -1.376 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.863 . . exonic exonic exonic . . . @ . . . 0.28 0.62 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.234 0.009 . . 37 . 0.186 . . 0.237 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.249 . . 0.230 . . . . . . 0 0.395 . . . . . . . 0.186 . HET 0.83 rs74565846 . . . . . . . . . . . . . . . . . . 0.900000 Q8N9W4 . . . . . 0.003 . . . 0 1.506e-05 0 0 0 0.0001 1.95e-05 0 0 0 0.0002 0 0 0 0 0.0004 0 . . 0.133 . -0.891 -0.891000 . . 0.900000 . . 1.0E-210 0.000 0.063 . 0.016 0.002 . 0.007 . 0.002 -0.891 -0.281 . . . rs74565846 rs74565846 1 1538 10 1/0 0,255,255 +rs78380007 15 23686185 A C - GOLGA6L2 26695 Golgin A6 family-like 2 NM_001304388.1 -1 3151 2730 NP_001291317.1 substitution missense exon GRCh37 23686185 23686185 Chr15(GRCh37):g.23686185A>C 1437 1437 NM_001304388.1:c.1437T>G p.Asn479Lys p.Asn479Lys 8 645 3' 86.2497 3.63729 0.388401 0 86.2497 3.63729 0.388401 0 0 rs78380007 no no 0 0.000000 0 0.000798 0.002786 0.000279 0.000285 0.000193 0.000112 0.001200 0.000527 0.001001 0.002786 88 18 5 2 1 2 52 5 3 110266 6462 17926 7012 5180 17864 43330 9496 2996 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 88 18 5 2 1 2 52 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.287 -0.440 N Asn AAT 0.464 K Lys AAG 0.575 479 12 1 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C0 226.93 34.45 Tolerated 0.13 III.16 200 PASS . . . . . . . . . . . . GOLGA6L2:uc021sfy.1:exon8:c.T1401G:p.N467K GOLGA6L2:NM_001304388:exon8:c.T1437G:p.N479K . . 0.1627907 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.003 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N479K|GOLGA6L2|mRNA|CODING|NM_001304388|NM_001304388.ex.8) . . . . . . . -0.9430 -1.182 -0.943 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.857 . . exonic exonic exonic . . . @ . . . 0.26 0.62 182 ENSG00000174450 GOLGA6L2 GOLGA6L2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.199 0.007 . . 37 . 0.267 . . 0.151 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . 0.419 . . 0.492 . . . . . . 0 0.010 . . . . . . . 0.048 . HET 0.7 rs568841014 0.033 0.058 . . . . . . . . . . . . . . . . 1.000000 Q8N9W4 . . . . . 0.003 . . . 0 6.221e-05 0.0002 0.0001 0 0 0 0 0.0001 0.0051 0.0059 0.0035 0.0066 0.0016 0.0022 0.0084 0.0068 . . 0.133 . -0.437 -0.437000 . . 1.000000 . . 1.0E-200 0.000 0.063 . 0.043 0.004 . 0.008 . 0.003 -0.437 0.642 0.033 . . rs78380007 rs78380007 1 1538 10 1/0 0,255,255 +rs369364757 15 26806343 G A - GABRB3 4083 Gamma-aminobutyric acid (GABA) A receptor, beta 3 NM_000814.5 -1 5783 1422 NP_000805.1 P28472 substitution intron GRCh37 26806343 26806343 Chr15(GRCh37):g.26806343G>A 836-20 836-20 NM_000814.5:c.836-20C>T p.? p.? 8 7 137192 -20 3' 92.7048 11.437 0.984718 13.1016 92.7048 XI.35 0.982101 XII.92 0.0127089 rs369364757 yes no Frequency 1 G likely_benign 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000045 0.000000 0.000000 0.000045 5 0 0 0 0 0 5 0 0 243982 15270 33564 9844 17220 30762 111016 20848 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 134 Exomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 126 RCV000418138.1 germline clinical testing Likely benign 1 not specified transition C T C>T 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.61290324 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.4421 . . . . . . . . 3.946e-05 . . . 0 5.538e-05 0 0 0 0.0001 0 0 0 2.834e-05 0 0 0 5.532e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.21 182 ENSG00000166206 GABRB3 GABRB3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369364757 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 2.049e-05 0 0 0 0 4.504e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs369364757 rs369364757 1 1538 10 1/0 0,255,255 +. (chr15:28595689 C/T) 15 28595689 C T Not on a known gene +rs2442394 (chr15:28598414 A/G) 15 28598414 A G Not on a known gene +rs767352247 (chr15:28599774 C/T) 15 28599774 C T Not on a known gene +rs775062337 (chr15:28600186 G/T) 15 28600186 G T Not on a known gene +. 15 28626697 G T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28626697 28626697 Chr15(GRCh37):g.28626697G>T 345+16 345+16 NM_001350920.1:c.345+16G>T p.? p.? 4 4 16 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.09936 0 transversion G T G>T 0.827 -0.198 179 PASS . . . . . . . . . . . . . . . . 0.11023622 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . -0.0740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 ncRNA_intronic . . . @ . . . . . . ENSG00000153684 GOLGA8G . . uc031qrc.1:c.-2623G>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +. 15 28626785 C T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28626785 28626785 Chr15(GRCh37):g.28626785C>T 345+104 345+104 NM_001350920.1:c.345+104C>T p.? p.? 4 4 104 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.82154 0 Cryptic Donor Strongly Activated 28626783 64.1147 II.91 0.549957 74.2187 transition C T C>T 0.000 -0.521 209 PASS . . . . . . . . . . . . . . . . 0.18518518 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.2483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 ncRNA_intronic . . . @ . . . . . . ENSG00000153684 GOLGA8G . . uc031qrc.1:c.-2535C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 28627918 T C - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28627918 28627918 Chr15(GRCh37):g.28627918T>C 432+23 432+23 NM_001350920.1:c.432+23T>C p.? p.? 6 6 23 5' 92.583 10.0326 0.994998 XII.63 92.583 10.0326 0.994998 XII.12 0 transition T C T>C 0.000 -2.135 255 PASS . . . . . . . . . . . . . . . . 0.37572256 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 173.0 . . . . . . . . . . -0.8442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.34 0.34 182 ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62001509 rs62001509 rs599965 rs599965 1 1538 10 1/0 0,226,255 +. 15 28628105 C A - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28628105 28628105 Chr15(GRCh37):g.28628105C>A 517+37 517+37 NM_001350920.1:c.517+37C>A p.? p.? 7 7 37 5' 79.9214 6.03361 0.522429 4.11234 79.9214 6.03361 0.522429 3.98762 0 transversion C A C>A 0.016 1.900 255 PASS . . . . . . . . . . . . . . . . 0.37226278 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 137.0 . . . . . . . . . . -0.2256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.38 0.15 182 ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs600532 rs600532 rs600532 rs600532 1 1538 10 1/0 0,238,255 +rs760805694 15 28629590 G A - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution synonymous exon GRCh37 28629590 28629590 Chr15(GRCh37):g.28629590G>A 819 819 NM_001350920.1:c.819G>A p.Ser273= p.Ser273Ser 10 -7 5' 87.2541 7.65636 0.824856 5.30554 87.2541 7.65636 0.932586 5.05919 0.0435349 rs760805694 yes no Frequency 1 G 0.000000 0 0.000142 0.000221 0.000112 0.000000 0.000072 0.000091 0.000248 0.000000 0.000816 0.000248 9 2 2 0 1 1 2 0 1 63272 9064 17808 1026 13892 10962 8068 1226 1226 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000248 0.000000 0.000000 1 0 0 0 0 0 1 0 0 7 2 2 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.063 -2.781 S Ser TCG 0.056 S Ser TCA 0.148 273 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 85.0 . . . . . . . . . . -0.6727 . . . . . . . . 9.759e-05 . . . 0.0004 0.0004 0 0.0004 0 0.0018 0 0 0 8.347e-05 0 0.0003 0 0 0 0 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.43 0.35 182 ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 0.0001 0 7.356e-05 0 0.0003 0.0008 9.122e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs79059912 rs79059912 1 1538 10 1/0 0,234,255 +rs564926438 15 28632800 T G - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution missense exon GRCh37 28632800 28632800 Chr15(GRCh37):g.28632800T>G 1368 1368 NM_001350920.1:c.1368T>G p.Ile456Met p.Ile456Met 15 -40 5' 81.0413 8.27203 0.900361 5.49834 81.0413 8.27203 0.900361 6.05729 0 rs564926438 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.003000 0.003100 0.000000 0.001000 0.000000 0.001954 0.004274 0.001618 0.000406 0.000584 0.005161 0.001559 0.000273 0.002548 0.005161 525 86 55 4 11 152 194 7 16 268674 20122 33990 9858 18832 29454 124462 25676 6280 0.000134 0.000398 0.000177 0.000000 0.000000 0.000543 0.000032 0.000000 0.000318 18 4 3 0 0 8 2 0 1 489 78 49 4 11 136 190 7 14 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.008 -0.360 I Ile ATT 0.356 M Met ATG 1.000 456 12 1 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Tolerated 0.17 III.17 231 PASS . . . . . 0.003 0.0016 . . 0.001 0.0031 . . . . . 0.24719101 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.000 . @ . . . . . 1 0.003 . . 89.0 . . . . . . . . . . -0.5893 -0.246 -0.589 n . . . . . 3.044e-03 . . . 0.0025 0.0038 0.0012 0.0002 0.0005 0.0018 0.0045 0.0139 0.0025 0.0032 0.0008 0.0001 0.0005 0.0015 0.0045 0.0139 nonsynonymous_SNV nonsynonymous_SNV . 0.899 . . exonic exonic ncRNA_exonic . . 0.116 0.0016 . . . . . . ENSG00000153684 . . . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . 0.007 . . . . . . 0 . . 0.260 . . 0.080 . . . . . . 0 0.026 . . . . . 0.026 . 0.163 . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . 0.0021 0.0014 0.0014 0.0003 0.0005 4.499e-05 0.0009 0.0011 0.0052 0.0080 0.0063 0.0086 0.0035 0.0019 0.0017 0.0067 0.0106 . . 0.133 . . . . . . . . 1.0E-231 0.000 0.063 . 0.090 0.012 . 0.032 . 0.010 . -0.547 . . . . . 1 1538 10 1/0 0,243,255 +rs527642451 15 28632803 T G - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution synonymous exon GRCh37 28632803 28632803 Chr15(GRCh37):g.28632803T>G 1371 1371 NM_001350920.1:c.1371T>G p.Pro457= p.Pro457Pro 15 -37 5' 81.0413 8.27203 0.900361 5.49834 81.0413 8.27203 0.900361 6.56823 0 rs527642451 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.003000 0.014300 0.000000 0.002000 0.000000 0.002033 0.004506 0.001648 0.000507 0.000584 0.005355 0.001608 0.000273 0.003022 0.005355 546 91 56 5 11 157 200 7 19 268546 20196 33982 9860 18828 29318 124392 25682 6288 0.000149 0.000594 0.000177 0.000000 0.000000 0.000546 0.000032 0.000000 0.000318 20 6 3 0 0 8 2 0 1 506 79 50 5 11 141 196 7 17 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.197 0.125 P Pro CCT 0.283 P Pro CCG 0.115 457 240 PASS . . . . . 0.003 0.004 . . 0.002 0.014 . . . . . 0.27631578 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 76.0 . . . . . . . . . . -0.4297 . . . . . . . . 3.051e-03 . . . 0.0027 0.0039 0.0011 0.0002 0.0005 0.0017 0.0045 0.0140 0.0027 0.0033 0.0008 0.0001 0.0005 0.0015 0.0046 0.0140 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . 0.0040 . . . . . . ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0015 0.0015 0.0004 0.0005 4.499e-05 0.0009 0.0015 0.0054 0.0081 0.0064 0.0085 0.0035 0.0019 0.0017 0.0068 0.0116 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs546581357 15 28632806 C T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution synonymous exon GRCh37 28632806 28632806 Chr15(GRCh37):g.28632806C>T 1374 1374 NM_001350920.1:c.1374C>T p.Ser458= p.Ser458Ser 15 -34 5' 81.0413 8.27203 0.900361 5.49834 81.0413 8.27203 0.900361 4.60236 0 rs546581357 yes no Frequency/1000G 2 C 0.000000 0 0.004393 0.003000 0.015300 0.000000 0.003000 0.000000 0.002191 0.004591 0.001678 0.000506 0.000637 0.006093 0.001742 0.000234 0.003182 0.006093 589 94 57 5 12 178 217 6 20 268884 20474 33960 9874 18830 29216 124558 25686 6286 0.000156 0.000586 0.000177 0.000000 0.000000 0.000548 0.000048 0.000000 0.000318 21 6 3 0 0 8 3 0 1 547 82 51 5 12 162 211 6 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.843 0.609 S Ser AGC 0.243 S Ser AGT 0.149 458 227 PASS . . . . . 0.003 0.0044 . . 0.003 0.015 . . . . . 0.23404256 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 94.0 . . . . . . . . . . -0.2896 . . . . . . . . 3.010e-03 . . . 0.0026 0.0038 0.0011 0.0002 0.0005 0.0017 0.0044 0.0139 0.0026 0.0032 0.0008 0.0001 0.0005 0.0014 0.0045 0.0139 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . 0.0044 . . . . . . ENSG00000153684 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0017 0.0015 0.0004 0.0005 4.498e-05 0.0010 0.0017 0.0061 0.0080 0.0065 0.0085 0.0035 0.0019 0.0014 0.0071 0.0117 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs566731488 15 28632807 A G - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution missense exon GRCh37 28632807 28632807 Chr15(GRCh37):g.28632807A>G 1375 1375 NM_001350920.1:c.1375A>G p.Ile459Val p.Ile459Val 15 -33 5' 81.0413 8.27203 0.900361 5.49834 81.0413 8.27203 0.900361 5.VI 0 Cryptic Acceptor Strongly Activated 28632806 II.49 0.021973 65.1092 3.40795 0.049369 65.1092 rs566731488 yes no Frequency/1000G 2 A 0.000000 0 0.004393 0.003000 0.015300 0.000000 0.003000 0.000000 0.002312 0.004536 0.001740 0.000608 0.000637 0.006811 0.001807 0.000234 0.003501 0.006811 621 93 59 6 12 198 225 6 22 268638 20504 33904 9872 18828 29070 124504 25672 6284 0.000164 0.000585 0.000177 0.000000 0.000000 0.000550 0.000048 0.000000 0.000637 22 6 3 0 0 8 3 0 2 577 81 53 6 12 182 219 6 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.874 0.044 I Ile ATC 0.481 V Val GTC 0.240 459 12 8 Zebrafish 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Tolerated 0.4 III.17 231 PASS . . . . . 0.003 0.0044 . . 0.003 0.015 . . . . . 0.24731183 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.002 . @ . . . . . 1 0.011 . . 93.0 . . . . . . . . . . -0.5011 -0.226 -0.501 n . . . . . 3.026e-03 . . . 0.0026 0.0038 0.0011 0.0002 0.0005 0.0017 0.0044 0.0140 0.0026 0.0032 0.0008 0.0001 0.0005 0.0014 0.0045 0.0140 nonsynonymous_SNV nonsynonymous_SNV . 0.252 . . exonic exonic ncRNA_exonic . . 0.088 0.0044 . . . . . . ENSG00000153684 . . . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . 0.060 . . . . . . 0 . . 0.267 . . 0.184 . . . . . . 0 0.010 . . . . . 0.161 . 0.056 . HET 0.7 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.066 . . . 0.0026 0.0018 0.0016 0.0005 0.0005 4.5e-05 0.0011 0.0022 0.0068 0.0079 0.0064 0.0086 0.0035 0.0019 0.0014 0.0070 0.0106 . . 0.133 . . . . . . . . 1.0E-231 0.991 0.370 . 0.074 0.426 . 0.379 . 0.018 . 0.649 . . . . . 1 1538 10 1/0 0,242,255 +. 15 28633208 G A - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28633208 28633208 Chr15(GRCh37):g.28633208G>A 1408-206 1408-206 NM_001350920.1:c.1408-206G>A p.? p.? 16 15 -206 3' 88.2295 6.11336 0.742443 1.65182 88.2295 6.11336 0.742443 1.65182 0 New Acceptor Site 28633210 I.11 0.087321 67.0228 transition G A G>A 0.000 -0.198 188 PASS . . . . . . . . . . . . . . . . 0.13114753 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.4180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.3 182 ENSG00000153684 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs78486584 rs78486584 1 1538 10 1/0 0,250,255 +. 15 28633845 C T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution synonymous exon GRCh37 28633845 28633845 Chr15(GRCh37):g.28633845C>T 1668 1668 NM_001350920.1:c.1668C>T p.His556= p.His556His 18 59 3' 83.1784 8.86152 0.7312 6.50969 83.1784 8.86152 0.7312 5.98182 0 transition C T C>T 0.520 0.286 H His CAC 0.587 H His CAT 0.413 556 224 PASS . . . . . . . . . . . . . . . . 0.22380953 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 210.0 . . . . . . . . . . -0.1560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.37 0.26 182 ENSG00000153684 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs79267301 rs79267301 1 1538 10 1/0 0,206,255 +. 15 28634007 G A - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution intron GRCh37 28634007 28634007 Chr15(GRCh37):g.28634007G>A 1763-18 1763-18 NM_001350920.1:c.1763-18G>A p.? p.? 19 18 -18 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.05 0.916582 9.03739 0.0033701 transition G A G>A 0.000 -0.602 244 PASS . . . . . . . . . . . . . . . . 0.28787878 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . -0.4821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.4 0.26 182 ENSG00000153684 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . rs2930391 rs2930391 rs2930391 rs2930391 1 1538 10 1/0 0,231,255 +. 15 28634070 G T - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution missense exon GRCh37 28634070 28634070 Chr15(GRCh37):g.28634070G>T 1808 1808 NM_001350920.1:c.1808G>T p.Gly603Val p.Gly603Val 19 46 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 8.65776 0 transversion G T G>T 0.000 -0.279 G Gly GGA 0.246 V Val GTA 0.114 603 12 9 Tetraodon -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 232.49 50.17 Deleterious 0.01 III.17 255 PASS . . . . . . . . . . . . . . . . 0.49659863 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.364 . @ . . . . . 1 0.308 . . 147.0 . . . . . . . . . . -0.3700 -0.221 -0.370 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.247 . . exonic exonic ncRNA_exonic . . 0.109 @ . . . 0.35 0.26 182 ENSG00000153684 GOLGA8G . . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . 0.940 . . . . . . 0 . . 0.899 . . 0.971 . . . . . . 0 0.506 . . . . . . . 0.129 . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-255 0.221 0.243 . 0.124 0.009 . 0.270 . 0.252 . 0.562 . rs2120416 rs2120416 rs2120416 rs2120416 1 1538 10 1/0 0,244,255 +. 15 28634235 G C - GOLGA8F 32378 Golgin A8 family member F NM_001350920.1 1 4971 1947 NP_001337849.1 substitution 3'UTR GRCh37 28634235 28634235 Chr15(GRCh37):g.28634235G>C *26 *26 NM_001350920.1:c.*26G>C p.? p.? 19 211 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 9.07338 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.000 -3.265 255 PASS . . . . . . . . . . . . . . . . 0.41538462 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -1.1358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . @ . . . 0.62 0.66 182 ENSG00000153684 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2587271 rs2587271 rs2587271 rs2587271 1 1538 10 1/0 0,255,255 +. 15 28767693 C G - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution 3'UTR GRCh37 28767693 28767693 Chr15(GRCh37):g.28767693C>G *26 *26 NM_001350919.1:c.*26G>C p.? p.? 19 211 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 9.07338 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion G C G>C 0.028 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.4915254 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.8500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 ncRNA_exonic . . . @ . . . 0.64 0.71 182 ENSG00000183629 GOLGA8G . ENST00000329523:c.*26G>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2587271 rs2587271 rs2587271 rs2587271 1 1538 10 1/0 0,255,255 +. 15 28767858 C A - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution missense exon GRCh37 28767858 28767858 Chr15(GRCh37):g.28767858C>A 1808 1808 NM_001350919.1:c.1808G>T p.Gly603Val p.Gly603Val 19 46 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.84 0.888363 8.65776 0 COSM5424726 Haematopoietic and lymphoid tissue 0.000850 3530 transversion G T G>T 0.000 -0.117 G Gly GGA 0.246 V Val GTA 0.114 603 12 9 Tetraodon -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 232.49 50.17 Deleterious 0.01 III.17 255 PASS . . . . . . . . . . . . . . . . 0.44827586 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.457 . @ . . . . . 1 0.291 . . 145.0 . . . . . . . . . . -0.3238 -0.221 -0.324 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.247 . . exonic exonic ncRNA_exonic . . 0.123 @ . . . 0.41 0.29 182 ENSG00000183629 GOLGA8G . . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.010 0.001 . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . 0.940 . . . . . . 0 . . 0.899 . . 0.971 . . . . . . 0 0.506 . . . . . 0.062 . 0.150 . HET 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.028 . . . . . . . . . . . . . . . . . . . . . . 0.133 . . . . . . . . 1.0E-255 0.001 0.137 . 0.090 0.008 . 0.232 . 0.247 . 0.542 . rs2120416 rs2120416 rs2120416 rs2120416 1 1538 10 1/0 0,238,255 +. 15 28767921 C T - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution intron GRCh37 28767921 28767921 Chr15(GRCh37):g.28767921C>T 1763-18 1763-18 NM_001350919.1:c.1763-18G>A p.? p.? 19 18 -18 3' 71.0765 X.84 0.888363 9.07338 71.0765 X.05 0.916582 9.03739 0.0033701 transition G A G>A 0.000 -0.279 234 PASS . . . . . . . . . . . . . . . . 0.25373134 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . -0.5040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.37 0.24 182 ENSG00000183629 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . rs2930391 rs2930391 rs2930391 rs2930391 1 1538 10 1/0 0,228,255 +. 15 28768083 G A - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution synonymous exon GRCh37 28768083 28768083 Chr15(GRCh37):g.28768083G>A 1668 1668 NM_001350919.1:c.1668C>T p.His556= p.His556His 18 59 3' 83.1784 8.86152 0.7312 6.50969 83.1784 8.86152 0.7312 5.98182 0 transition C T C>T 0.228 -0.037 H His CAC 0.587 H His CAT 0.413 556 229 PASS . . . . . . . . . . . . . . . . 0.24056605 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 212.0 . . . . . . . . . . -0.1611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.39 0.24 182 ENSG00000183629 GOLGA8G . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs79267301 rs79267301 1 1538 10 1/0 0,206,255 +. 15 28773822 G T - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution intron GRCh37 28773822 28773822 Chr15(GRCh37):g.28773822G>T 517+37 517+37 NM_001350919.1:c.517+37C>A p.? p.? 7 7 37 5' 79.9214 6.03361 0.522429 4.11234 79.9214 6.03361 0.522429 3.98762 0 transversion C A C>A 0.000 1.820 255 PASS . . . . . . . . . . . . . . . . 0.4047619 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.2924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.24 182 ENSG00000183629 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs600532 rs600532 rs600532 rs600532 1 1538 10 1/0 0,243,255 +. 15 28774009 A G - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution intron GRCh37 28774009 28774009 Chr15(GRCh37):g.28774009A>G 432+23 432+23 NM_001350919.1:c.432+23T>C p.? p.? 6 6 23 5' 92.583 10.0326 0.994998 XII.63 92.583 10.0326 0.994998 XII.12 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.39263803 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . -0.5062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.41 0.29 182 ENSG00000183629 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62001509 rs62001509 rs599965 rs599965 1 1538 10 1/0 0,233,255 +rs879442636 15 28775142 G A - GOLGA8G 25328 Golgin A8 family member G NM_001350919.1 -1 4971 1947 NP_001337848.1 substitution intron GRCh37 28775142 28775142 Chr15(GRCh37):g.28775142G>A 345+104 345+104 NM_001350919.1:c.345+104C>T p.? p.? 4 4 104 5' 82.032 8.84552 0.984054 6.82154 82.032 8.84552 0.984054 6.82154 0 Cryptic Donor Strongly Activated 28775144 64.1147 II.91 0.549957 74.2187 rs879442636 no no 0 G 0.000000 0 0.006684 0.002215 0.007958 0.004717 0.000000 0.000000 0.011081 0.003383 0.008333 0.011081 183 18 6 1 0 0 140 11 7 27378 8128 754 212 1558 0 12634 3252 840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 183 18 6 1 0 0 140 11 7 0 0 0 0 0 0 0 0 0 RF 28 Genomes transition C T C>T 0.008 -0.198 191 PASS . . . . . . . . . . . . . . . . 0.13793103 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.3246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 ncRNA_intronic . . . @ . . . . . . ENSG00000183629 GOLGA8G . . uc031qrd.1:c.-2535C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0067 0.0080 0.0047 0 0.0034 0.0111 0.0083 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +. (chr15:28802151 G/A) 15 28802151 G A Not on a known gene +. (chr15:28803504 T/C) 15 28803504 T C Not on a known gene +. (chr15:28804001 A/G) 15 28804001 A G Not on a known gene +. (chr15:28806233 G/A) 15 28806233 G A Not on a known gene +. (chr15:28877893 G/A) 15 28877893 G A Not on a known gene +. (chr15:28878763 G/C) 15 28878763 G C Not on a known gene +. (chr15:28882717 C/A) 15 28882717 C A Not on a known gene +. (chr15:28887591 A/G) 15 28887591 A G Not on a known gene +. (chr15:28894114 G/A) 15 28894114 G A Not on a known gene +. (chr15:28894120 T/C) 15 28894120 T C Not on a known gene +. 15 28951271 T G - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution missense exon GRCh37 28951271 28951271 Chr15(GRCh37):g.28951271T>G 865 865 NM_001282468.1:c.865A>C p.Asn289His p.Asn289His 11 -10 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.79983 0 Cryptic Acceptor Strongly Activated 28951265 3.06603 2.6e-05 60.3761 3.73076 0.000255 64.1599 0.001333 0.002220 0.000740 0.000000 0.002396 0.000000 0.001086 0.002349 0.001147 0.002396 76 24 4 0 9 0 28 9 2 56994 10812 5402 1066 3756 4590 25792 3832 1744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 76 24 4 0 9 0 28 9 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426325 Haematopoietic and lymphoid tissue 0.001133 3530 transversion A C A>C 0.370 1.174 N Asn AAC 0.536 H His CAC 0.587 289 16 6 White-tuffed-ear marmoset 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 262.18 0.00 Tolerated 0.07 II.99 219 PASS . . . . . . . . . . . . . GOLGA8M:NM_001282468:exon11:c.A865C:p.N289H . . 0.21176471 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.095 . @ . . . . . 1 0.088 . . 85.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N289H|GOLGA8M|mRNA|CODING|NM_001282468|NM_001282468.ex.11) . . . . . . . -0.6483 -0.853 -0.648 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.255 . . exonic downstream exonic . . 0.177 @ . . . 0.43 0.34 182 ENSG00000188626 DQ593032 GOLGA8M . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . 0.213 . . 0.262 . . . 0.618 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.636 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.337 . . . . . 0.086 . 0.100 . HET 0.08 . . . . . . . . . . . . . III.95 . ENST00000340249 0.798 0.798 . 0.060000 . . . . . . 0.147 . . . 0 3.203e-05 0 0 0 0 0 0.0010 0 0.0032 0.0029 0.0059 0 0.0076 0.0027 0.0023 0.0013 . . 0.246 . 0.605 0.605000 . . 0.060000 . . 1.0E-219 0.000 0.063 . 0.134 0.199 . 0.202 . 0.276 0.605 0.732 . . rs71401065 rs71401065 rs71401065 1 1538 10 1/0 0,243,255 +rs3091298 15 28951301 T G - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution missense exon GRCh37 28951301 28951301 Chr15(GRCh37):g.28951301T>G 835 835 NM_001282468.1:c.835A>C p.Lys279Gln p.Lys279Gln 11 -40 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.93941 0 0.003992 0.001548 0.001813 0.000840 0.000000 0.000000 0.002269 0.044678 0.008206 0.044678 242 18 12 1 0 0 60 136 15 60616 11628 6618 1190 4762 5106 26440 3044 1828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242 18 12 1 0 0 60 136 15 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5419621|COSM5419621|COSM5419621 Thyroid|Liver|Haematopoietic and lymphoid tissue 0.001339|0.000422|0.000283 747|2371|3530 transversion A C A>C 0.807 -0.360 K Lys AAG 0.575 Q Gln CAG 0.744 279 16 4 Macaque 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 61.81 0.00 Tolerated 0.16 II.98 176 PASS . . . . . . . . . . . . . GOLGA8M:NM_001282468:exon11:c.A835C:p.K279Q . . 0.10526316 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.117 . @ . . . . . 1 0.115 . . 76.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K279Q|GOLGA8M|mRNA|CODING|NM_001282468|NM_001282468.ex.11) . . . . . . . -0.7196 -0.916 -0.720 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.213 . . exonic downstream exonic . . 0.118 @ . . . 0.45 0.38 182 ENSG00000188626 DQ593032 GOLGA8M . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.164 . . 0.290 . . . 0.424 0.194 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.187 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.361 . . . . . 0.040 . 0.217 . LowAF 0.03 . . . . . . . . . . . . . II.98 . ENST00000340249 0.798 -0.373 . 0.090000 . . . . . . 0.080 . . . 0 2.776e-05 0.0002 0 0 0 0 0 0 0.0023 0.0098 0.0165 0.0053 0 0.0555 0.0053 0.0208 . . 0.246 . -0.113 -0.113000 . . 0.090000 . . 1.0E-176 0.016 0.191 . 0.043 0.091 . 0.196 . 0.002 -0.113 -0.414 . . . rs67450559 rs67450559 1 1538 10 1/0 0,238,255 +. 15 28951364 A G - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution intron GRCh37 28951364 28951364 Chr15(GRCh37):g.28951364A>G 787-15 787-15 NM_001282468.1:c.787-15T>C p.? p.? 11 10 -15 3' 78.7591 8.25823 0.534386 VII.76 78.7591 8.35085 0.470069 7.54138 -0.0363804 0.000564 0.000790 0.000000 0.000000 0.001100 0.000169 0.000613 0.000781 0.000455 0.001100 41 10 0 0 8 1 18 3 1 72708 12654 10078 1392 7272 5908 29364 3842 2198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 10 0 0 8 1 18 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.521 209 PASS . . . . . . . . . . . . . . . . 0.18309858 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 71.0 . . INTRON(MODIFIER||||GOLGA8M|mRNA|CODING|NM_001282468|) . . . . . . . -0.6932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intronic . . . @ . . . . . . ENSG00000188626 DQ593032 GOLGA8M . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.519e-05 0 0 0.0002 0 5.883e-05 0 0.0002 0.0013 0.0014 0 0 0.0045 0.0009 0.0014 0.0012 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs408492 15 28953448 T A - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution intron GRCh37 28953448 28953448 Chr15(GRCh37):g.28953448T>A 348+73 348+73 NM_001282468.1:c.348+73A>T p.? p.? 5 5 73 5' 67.0945 2.34492 0.031213 0 67.0945 2.34492 0.031213 0 0 rs408492 yes no Frequency 1 T 0.000000 0 0.000097 0.000000 0.000000 0.000000 0.000000 0.000000 0.000134 0.000286 0.000000 0.000286 3 0 0 0 0 0 2 1 0 30928 8718 838 302 1616 0 14980 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transversion A T A>T 0.008 0.609 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||GOLGA8M|mRNA|CODING|NM_001282468|) . . . . . . . -0.1445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream\x3bdownstream intronic . . . @ . . . 0.67 0.49 182 ENSG00000188626 DQ582939\x3bDQ588687 GOLGA8M ENST00000340249:c.-24A>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.7e-05 0 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs408492 rs408492 rs408492 rs408492 1 1538 10 1.I 0,0,0 +rs374694351 15 28953545 T C - GOLGA8M 44404 Golgin A8 family, member M NM_001282468.1 -1 5256 1899 NP_001269397.1 H3BSY2 substitution synonymous exon GRCh37 28953545 28953545 Chr15(GRCh37):g.28953545T>C 324 324 NM_001282468.1:c.324A>G p.Lys108= p.Lys108Lys 5 15 3' 79.5333 11.1638 0.973755 11.1576 79.5333 11.1638 0.977983 11.0238 0.00144732 rs374694351 no no 0 T 0.000000 0 0.001409 0.005185 0.000884 0.000367 0.002773 0.000000 0.000892 0.002006 0.000518 0.005185 200 73 18 2 33 0 55 17 2 141908 14080 20372 5456 11902 16076 61686 8474 3862 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 200 73 18 2 33 0 55 17 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.236 -0.117 K Lys AAA 0.425 K Lys AAG 0.575 108 199 PASS . . . . . . . . . . . ENSG00000188626:ENST00000563027:exon5:c.A324G:p.K108K . GOLGA8M:NM_001282468:exon5:c.A324G:p.K108K . . 0.15873016 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 63.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K108|GOLGA8M|mRNA|CODING|NM_001282468|NM_001282468.ex.5) . . . . . . . 0.0239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic ncRNA_exonic exonic . . . @ . . . 0.68 0.62 182 ENSG00000188626 DQ582939 GOLGA8M . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374694351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.287e-06 0 0 0 0 1.946e-05 0 0 0.0124 0.0094 0.0350 0.0128 0.0367 0.0060 0.0052 0.0030 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs4300622 rs4300622 rs4300622 rs374694351 1 1538 10 1/0 0,251,255 +. 15 29053520 C T - PDCD6IPP2 49873 PDCD6IP pseudogene 2 NR_037599.1 1 2100 0 substitution exon GRCh37 29053520 29053520 Chr15(GRCh37):g.29053520C>T 800 800 NR_037599.1:n.800C>T 7 -44 5' 87.2541 7.65636 0.980145 V.23 87.2541 7.65636 0.980145 5.77173 0 transition C T C>T 1.000 3.918 217 PASS . . . . . . . . . . . . . . . . 0.20502092 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 239.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A267V|PDCD6IPP2|Non-coding_transcript|NON_CODING|NR_037599|NR_037599.ex.7) . . . . . . . 1.1822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.44 182 ENSG00000261377 LOC646278 PDCD6IPP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs2289028 rs2289028 rs2289028 rs2289028 1 1538 10 1/0 0,198,255 +. 15 29086745 T C - PDCD6IPP2 49873 PDCD6IP pseudogene 2 NR_037599.1 1 2100 0 substitution intron GRCh37 29086745 29086745 Chr15(GRCh37):g.29086745T>C 1560+2777 1560+2777 NR_037599.1:n.1560+2777T>C p.? p.? 12 12 2777 5' 81.8287 6.98734 0.898907 3.1061 81.8287 6.98734 0.898907 3.1061 0 0.000802 0.000742 0.000000 0.000000 0.002805 0.000000 0.000787 0.000618 0.000000 0.002805 23 6 0 0 4 0 11 2 0 28684 8086 764 282 1426 0 13972 3236 918 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 6 0 0 4 0 11 2 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.740 0.367 253 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.1423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.44 0.19 182 ENSG00000261377 LOC646278 PDCD6IPP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0008 0 0 0.0028 0.0006 0.0008 0 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs4351114 rs4351114 rs4351114 rs4351114 1 1538 10 1/0 0,255,255 +rs146641926 15 29346682 G A - APBA2 579 Amyloid beta precursor protein binding family A member 2 NM_001353788.1 1 3941 2250 NP_001340717.1 Q99767 substitution missense exon GRCh37 29346682 29346682 Chr15(GRCh37):g.29346682G>A 595 595 NM_001353788.1:c.595G>A p.Glu199Lys p.Glu199Lys 4 602712 -357 5' 84.5905 9.78584 0.947122 XII.44 84.5905 9.78584 0.947122 XII.44 0 rs146641926 yes no Frequency 1 G 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000045 0.000000 0.000000 0.000045 5 0 0 0 0 0 5 0 0 245300 15196 33544 9810 17204 30742 111110 22226 5468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 97 Exomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 41 COSM1372279 Large intestine 0.000448 2231 transition G A G>A 0.000 -3.346 E Glu GAG 0.583 K Lys AAG 0.575 199 12 2 Chimp 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 233.15 36.47 Tolerated 0.3 III.40 255 PASS . . . . . . . . . . . . . . . . 0.48235294 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.015 . . 170.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -2.1613 -2.265 -2.161 c . . . . . 2.368e-05 . . . 0 1.133e-05 0 0 0 2.454e-05 0 0 0 1.931e-05 0 0 0 3.769e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.425 . . exonic exonic exonic . . 0.005 @ . . . 0.18 0.31 182 ENSG00000034053 APBA2 APBA2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.033 . . . . T 0.123 0.005 . . 37 . 0.185 . . 0.147 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.174 . . 0.127 . . . . . . 0 0.242 . . . . . 0.118 . 0.460 . HET 0.85 rs146641926 . . . . . . ID\x3dCOSM1372279\x3bOCCURENCE\x3d1(large_intestine) . . . . . 4.638 0.0 . IV.77 -9.54 . 0.340000 . . . . 0.000077 . 0.090 . . . 0 2.038e-05 0 0 0 0 4.5e-05 0 0 . . . . . . . . . . 0.609 . -4.582 -4.582000 . . 0.340000 . . 1.0E-255 0.000 0.063 . 0.016 0.327 . 0.070 . 0.001 -4.582 -0.775 0.0001 . . rs146641926 rs146641926 1 1538 10 1/0 0,235,255 +. 15 30012646 T C - TJP1 11827 Tight junction protein 1 NM_001301025.2 -1 7899 5586 NP_001287954.2 substitution synonymous exon GRCh37 30012646 30012646 Chr15(GRCh37):g.30012646T>C 2958 2958 NM_001301025.2:c.2958A>G p.Gln986= p.Gln986Gln 20 601009 -85 5' 94.2214 9.88355 0.998941 6.05418 94.2214 9.88355 0.998941 6.05418 0 transition A G A>G 0.913 -0.360 Q Gln CAA 0.256 Q Gln CAG 0.744 986 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 1.0845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000104067 TJP1 TJP1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62016979 15 30375254 C T - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution 5'UTR GRCh37 30375254 30375254 Chr15(GRCh37):g.30375254C>T -2 -2 NM_001282472.1:c.-2C>T p.? p.? 1 -50 5' 82.2129 8.37568 0.962674 8.53965 82.2129 8.37568 0.962674 8.13028 0 Cryptic Acceptor Strongly Activated 30375263 3.021 0.0068 71.8306 3.14875 0.014238 74.5425 rs62016979 no no 0 0.000000 0 0.007583 0.000000 0.008475 0.000000 0.000000 0.009050 0.006173 0.000000 0.000000 0.009050 17 0 8 0 0 8 1 0 0 2242 14 944 6 150 884 162 10 72 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 8 0 0 8 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.984 -0.440 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . UTR_5_PRIME(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|NM_001282472.ex.1) . . . . . . . 0.0230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream UTR5 . . . @ . . . . . . ENSG00000179938 AK310526 GOLGA8J ENST00000341650:c.-4604C>T . NM_001282472:c.-2C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62016979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0076 0.0085 0 0 0 0.0063 0 0.0090 0 0 . . . . 0 . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs62016979 rs62016979 rs62016979 rs62016979 1 1538 10 1/0 0,245,255 +. 15 30375530 G C - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30375530 30375530 Chr15(GRCh37):g.30375530G>C 48+227 48+227 NM_001282472.1:c.48+227G>C p.? p.? 1 1 227 5' 82.2129 8.37568 0.962674 8.53965 82.2129 8.37568 0.962674 8.53965 0 transversion G C G>C 0.000 -0.117 238 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.4056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream intronic . . . @ . . . . . . ENSG00000179938 AK310526 GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs2648178 rs2648178 rs2648178 rs2648178 1 1538 10 1/0 0,255,255 +rs752901007 15 30377020 C T - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution missense exon GRCh37 30377020 30377020 Chr15(GRCh37):g.30377020C>T 95 95 NM_001282472.1:c.95C>T p.Ala32Val p.Ala32Val 2 47 3' 84.6732 X.99 0.973201 VII.11 84.6732 X.99 0.973201 VII.11 0 rs752901007 yes no Frequency 1 0.000000 0 0.000075 0.000000 0.000052 0.000000 0.000000 0.000065 0.000130 0.000000 0.000000 0.000130 9 0 1 0 0 1 7 0 0 119448 4646 19182 5578 10192 15428 53728 7312 3382 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 1 0 0 0 0 0 1 0 0 7 0 1 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.005 A Ala GCG 0.107 V Val GTG 0.468 32 15 7 Coelacanth 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0.02 3.V 229 PASS . . . . . . . . . . . ENSG00000179938:ENST00000567927:exon2:c.C95T:p.A32V AK310526:uc001zcu.2:exon2:c.C56T:p.A19V GOLGA8J:NM_001282472:exon2:c.C95T:p.A32V . . 0.24324325 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.020 . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A32V|GOLGA8J|mRNA|CODING|NM_001282472|NM_001282472.ex.2) . . . . . . . -0.5235 -0.236 -0.524 n . . . . . 2.308e-05 . . . 0 0.0003 0 0 0 0 0 0.0005 0 0.0003 0 0 0 0 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.096 . . exonic exonic exonic . . 0.057 @ . . . . . . ENSG00000179938 AK310526 GOLGA8J . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.012 0.001 . . 37 . . . . . . . . 0.370 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.385 . . 0 0 0 0 0 0 . 0.131 . . 0.112 . . . . . . 0 0.264 . . . . . 0.065 . 0.030 . HET 0.21 rs752901007 . . . . . . . . . . . . . . . . . . . . . . . . . 0.013 . . . 0 7.776e-05 5.377e-05 0 0 0 0.0001 0 6.482e-05 0 6.034e-05 0 0 0 0 0.0001 0 . . 0.246 . . . . . . . . 1.0E-229 0.007 0.175 . 0.095 0.933 . 0.069 . 0.085 . -0.011 . rs4042440 rs4042440 rs4042440 rs4042440 1 1538 10 1/0 0,255,255 +. 15 30377910 G A - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30377910 30377910 Chr15(GRCh37):g.30377910G>A 169-76 169-76 NM_001282472.1:c.169-76G>A p.? p.? 3 2 -76 3' 78.357 7.75642 0.8783 5.35195 78.357 7.75642 0.8783 5.11285 0 transition G A G>A 0.008 0.205 199 PASS . . . . . . . . . . . . . . . . 0.1557377 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.1524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000179938 AK310526 GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +. 15 30381517 A C - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution missense exon GRCh37 30381517 30381517 Chr15(GRCh37):g.30381517A>C 865 865 NM_001282472.1:c.865A>C p.Asn289His p.Asn289His 11 -10 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.79983 0 Cryptic Acceptor Strongly Activated 30381523 3.06603 2.6e-05 60.3761 3.73076 0.000255 64.1599 transversion A C A>C 0.937 1.497 N Asn AAC 0.536 H His CAC 0.587 289 15 6 White-tuffed-ear marmoset 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 262.18 0.00 Tolerated 0.08 II.98 179 PASS . . . . . . . . . . . . . GOLGA8J:NM_001282472:exon11:c.A865C:p.N289H . . 0.11235955 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.033 . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N289H|GOLGA8J|mRNA|CODING|NM_001282472|NM_001282472.ex.11) . . . . . . . -0.5636 -0.759 -0.564 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.255 . . exonic downstream exonic . . 0.218 @ . . . 0.46 0.34 182 ENSG00000179938 DQ595055 GOLGA8J . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.050 0.002 . . 37 . 0.215 . . 0.212 . . . 0.798 0.210 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.636 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.323 . . . . . 0.141 . 0.069 . LowAF 0.17 . . . . . . . . . . . . . 5.1172 . ENST00000341650 I.48 I.48 . 0.170000 . . . . . . 0.229 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.944 0.944000 . . 0.170000 . . 1.0E-179 0.001 0.137 . 0.043 0.150 . 0.301 . 0.315 0.944 1.035 . . . rs76015620 rs76015620 1 1538 10 1/0 0,232,255 +rs765346782 15 30381552 G C - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30381552 30381552 Chr15(GRCh37):g.30381552G>C 874+26 874+26 NM_001282472.1:c.874+26G>C p.? p.? 11 11 26 5' 81.5823 8.90513 0.917225 7.43688 81.5823 8.90513 0.917225 7.10039 0 Cryptic Acceptor Strongly Activated 30381555 57.9031 0.61473 0.001175 68.7252 transversion G C G>C 0.213 0.205 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.2526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intronic . . . @ . . . 0.42 0.33 182 ENSG00000179938 DQ595055 GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs77412813 rs77412813 1 1538 10 1/0 0,234,255 +. 15 30384426 A G - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30384426 30384426 Chr15(GRCh37):g.30384426A>G 1368+90 1368+90 NM_001282472.1:c.1368+90A>G p.? p.? 15 15 90 5' 81.0413 8.27203 0.900361 7.63627 81.0413 8.27203 0.900361 7.63627 0 0.000197 0.000139 0.000000 0.000000 0.000000 0.000000 0.000253 0.000000 0.001229 0.000253 5 1 0 0 0 0 3 0 1 25402 7180 700 212 1392 0 11838 3266 814 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition A G A>G 0.000 0.932 181 PASS . . . . . . . . . . . . . . . . 0.116071425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 112.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.2080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000179938 . GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0002 0 0 0 0 0.0003 0.0012 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 15 30384435 G A - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30384435 30384435 Chr15(GRCh37):g.30384435G>A 1368+99 1368+99 NM_001282472.1:c.1368+99G>A p.? p.? 15 15 99 5' 81.0413 8.27203 0.900361 7.63627 81.0413 8.27203 0.900361 7.63627 0 0.000038 0.000136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 1 1 0 0 0 0 0 0 0 26228 7354 720 214 1442 0 12344 3324 830 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 30 Genomes transition G A G>A 0.000 -0.279 175 PASS . . . . . . . . . . . . . . . . 0.10280374 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.3467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000179938 . GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.813e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 15 30385056 C T - GOLGA8J 38650 Golgin A8 family, member J NM_001282472.1 1 5199 1899 NP_001269401.1 substitution intron GRCh37 30385056 30385056 Chr15(GRCh37):g.30385056C>T 1470-38 1470-38 NM_001282472.1:c.1470-38C>T p.? p.? 17 16 -38 3' 85.6012 X.38 0.910969 9.97037 85.6012 X.38 0.910969 X.38 0 30385059 -13.8503 0.000761 0.005473 0.000106 0.000000 0.001170 0.000000 0.000427 0.000543 0.000752 0.005473 163 89 3 0 17 0 43 7 4 214222 16262 28196 9068 14526 27258 100702 12888 5322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 163 89 3 0 17 0 43 7 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.489 201 PASS . . . . . . . . . . . . . . . . 0.1627907 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||GOLGA8J|mRNA|CODING|NM_001282472|) . . . . . . . -0.6774 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream\x3bdownstream intronic . . . @ . . . 0.71 0.34 182 ENSG00000221250 . GOLGA8J . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 1.058e-05 3.635e-05 0 0 0 0 0 0 0.0134 0.0064 0.0029 0 0.0140 0.0022 0.0034 0.0050 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . rs4093557 rs4093557 rs4093557 rs4093557 1 1538 10 1/0 0,238,255 +. 15 30427974 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution intron GRCh37 30427974 30427974 Chr15(GRCh37):g.30427974C>T 48+575 48+575 NM_001355469.1:c.48+575C>T p.? p.? 1 1 575 5' 82.2129 8.37568 0.962674 8.53965 82.2129 8.37568 0.962674 8.53965 0 0.005662 0.017777 0.001618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.017777 112 111 1 0 0 0 0 0 0 19782 6244 618 178 926 0 8284 2928 604 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 111 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 28 Genomes transition C T C>T 0.323 1.174 255 PASS . . . . . . . . . . . . . . . . 0.42105263 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . . . . . . . . . -0.5535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . 0.4 0.28 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VI.87 . ENST00000453651 I.48 I.48 . 0.000000 . . . . . . . . . . . . . . . . . . . 0.0178 0.0057 0.0016 0 0 0 0 0 . . . . 1.138 1.138000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 1.138 . . . . rs75400858 rs75400858 1 1538 10 1/0 0,255,255 +. 15 30430008 G A - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution intron GRCh37 30430008 30430008 Chr15(GRCh37):g.30430008G>A 169-76 169-76 NM_001355469.1:c.169-76G>A p.? p.? 3 2 -76 3' 78.357 7.75642 0.8783 5.35195 78.357 7.75642 0.8783 5.11285 0 transition G A G>A 0.008 0.205 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . INTRON(MODIFIER||||GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|) . . . . . . . -0.1445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.25 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,228,255 +. 15 30430340 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution stop gain exon GRCh37 30430340 30430340 Chr15(GRCh37):g.30430340C>T 244 244 NM_001355469.1:c.244C>T p.Arg82* p.Arg82* 4 16 3' 72.9796 6.50556 0.311358 5.77352 72.9796 6.50556 0.170977 5.32977 -0.150289 transition C T C>T 1.000 2.546 R Arg CGA 0.110 * * TGA 0.489 82 191 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon4:c.C244T:p.R82X . . . . 0.13829787 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.963 . @ . . . . . 1 0.586 . . 94.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T121M|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.4) . . . . . . . 0.5715 -0.074 0.572 n . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . . exonic exonic ncRNA_exonic . . 0.218 @ . . . 0.36 0.35 182 ENSG00000261247 GOLGA8T GOLGA8T . . . 0.000 0.052 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.208 . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.423 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-191 1.000 0.715 . 0.122 0.988 . 0.624 . 0.283 . 0.871 . . rs71222217 rs71222217 rs71222217 1 1538 10 1/0 0,232,255 +. 15 30430362 G C - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution missense exon GRCh37 30430362 30430362 Chr15(GRCh37):g.30430362G>C 266 266 NM_001355469.1:c.266G>C p.Arg89Thr p.Arg89Thr 4 38 3' 72.9796 6.50556 0.311358 5.77352 72.9796 6.50556 0.311358 6.57224 0 Cryptic Acceptor Strongly Activated 30430371 0.007227 IV.62 0.034025 70.8452 transversion G C G>C 1.000 2.546 R Arg AGG 0.207 T Thr ACG 0.116 89 12 2 Olive baboon -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 353.86 0.00 Tolerated 0.48 3.VIII 202 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon4:c.G266C:p.R89T . . . . 0.16483517 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.033 . @ . . . . . 1 0.049 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K128N|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.4) . . . . . . . 0.4531 -0.096 0.453 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.210 . . exonic exonic ncRNA_exonic . . 0.218 @ . . . 0.38 0.38 182 ENSG00000261247 GOLGA8T GOLGA8T . . . 0.000 0.052 . . . . . . . . . 0 . . . . . . T 0.056 0.003 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.431 . . . . . . 0 . . 0.212 . . 0.212 . . . . . . 0 0.189 . . . . . 0.208 . 0.137 . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.501 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . . . . 1.0E-202 1.000 0.715 . 0.074 0.852 . 0.713 . 0.287 . 0.917 . rs2338464 rs2338464 rs2338464 rs2338464 1 1538 10 1/0 0,236,255 +rs372039906 15 30433513 A G - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution intron GRCh37 30433513 30433513 Chr15(GRCh37):g.30433513A>G 787-28 787-28 NM_001355469.1:c.787-28A>G p.? p.? 11 10 -28 3' 78.7591 8.25823 0.534386 7.64704 78.7591 8.25823 0.534386 7.72207 0 New Acceptor Site 30433514 8.08638 0.94299 84.689 rs372039906 no no 0 A 0.000000 0 0.000103 0.001242 0.000000 0.000000 0.000122 0.000000 0.000065 0.000000 0.000183 0.001242 23 13 0 0 2 0 7 0 1 222556 10464 31666 9114 16406 26546 107128 15754 5478 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 21 13 0 0 2 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.216 207 PASS . . . . . . . . . . . . . . . . 0.1780822 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . INTRON(MODIFIER||||GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|) . . . . . . . -0.7687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.36 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372039906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1,00E-05 0 0 0 0 2.106e-05 0 0 0.0031 0.0009 0 0 0.0015 0 0.0004 0.0013 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs2554154 rs2554154 rs2554154 rs2554154 1 1538 10 1/0 0,247,255 +rs376503372 15 30433526 T C - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution intron GRCh37 30433526 30433526 Chr15(GRCh37):g.30433526T>C 787-15 787-15 NM_001355469.1:c.787-15T>C p.? p.? 11 10 -15 3' 78.7591 8.25823 0.534386 7.64704 78.7591 8.35085 0.470069 7.27082 -0.0363804 rs376503372 no no 0 T 0.000000 0 0.000126 0.001299 0.000000 0.000000 0.000063 0.000039 0.000097 0.000000 0.000373 0.001299 27 13 0 0 1 1 10 0 2 214222 10010 30888 8922 15908 25644 103070 14424 5356 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 25 13 0 0 1 1 8 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.598 0.205 195 PASS . . . . . . . . . . . . . . . . 0.14666666 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . INTRON(MODIFIER||||GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|) . . . . . . . -0.2938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.39 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs376503372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.087e-05 0 0 0 0 3.3e-05 0 3.9e-05 0.0031 0.0010 0 0 0.0007 0 0.0006 0.0026 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs75197077 rs376503372 1 1538 10 1/0 0,243,255 +. 15 30437388 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution missense exon GRCh37 30437388 30437388 Chr15(GRCh37):g.30437388C>T 1598 1598 NM_001355469.1:c.1598C>T p.Ala533Val p.Ala533Val 18 34 3' 83.1784 8.86152 0.7312 5.72828 83.1784 8.86152 0.7312 5.58863 0 Cryptic Acceptor Strongly Activated 30437398 3.35865 0.022359 77.2108 5.03514 0.038202 80.4935 0.000188 0.000000 0.000097 0.000000 0.000551 0.000739 0.000000 0.000000 0.000000 0.000739 9 0 1 0 4 4 0 0 0 47804 4002 10332 1192 7262 5412 17566 640 1398 0.111111 0.000000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 7 0 1 0 4 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 85 Exomes transition C T C>T 0.976 -0.763 A Ala GCG 0.107 V Val GTG 0.468 533 12 2 Chimp 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 244.41 35.60 Tolerated 0.12 3.VI 183 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon18:c.C1598T:p.A533V GOLGA8T:uc021sha.1:exon16:c.C1391T:p.A464V . . . 0.11904762 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.061 . @ . . . . . 2 0.164 . . 84.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C516|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.16) . . . . . . . -0.4521 -0.244 -0.452 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.070 . . exonic exonic ncRNA_exonic . . 0.052 @ . . . . . . ENSG00000261247 GOLGA8T GOLGA8T . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.004 0.001 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.223 . . . . . . 0 . . . . . . . . . . . . 0 0.199 . . . . . 0.069 . 0.163 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.170 . . . 0 0.0002 9.679e-05 0 0.0006 0 0 0 0.0007 . . . . . . . . . . 0.246 . . . . . . . . 1.0E-183 0.990 0.367 . 0.016 0.006 . 0.179 . 0.000 . -1.284 . . . . . 1 1538 10 1/0 0,235,255 +. 15 30437426 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution synonymous exon GRCh37 30437426 30437426 Chr15(GRCh37):g.30437426C>T 1636 1636 NM_001355469.1:c.1636C>T p.Leu546= p.Leu546Leu 18 72 3' 83.1784 8.86152 0.7312 5.72828 83.1784 8.86152 0.7312 5.42524 0 0.000260 0.000230 0.000000 0.000000 0.000115 0.000894 0.000323 0.000000 0.000468 0.000894 18 2 0 0 1 5 9 0 1 69278 8706 11150 1350 8716 5594 27826 3798 2138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 2 0 0 1 5 9 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.016 0.609 L Leu CTG 0.404 L Leu TTG 0.127 546 181 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon18:c.C1636T:p.L546L GOLGA8T:uc021sha.1:exon16:c.C1429T:p.L477L . . . 0.114503816 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 131.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P529L|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.16) . . . . . . . -0.0891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.2 182 ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0.0001 0 0.0004 0.0007 0.0009 0.0005 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs75914915 rs75914915 1 1538 10 1/0 0,216,255 +. 15 30437495 G A - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution missense exon GRCh37 30437495 30437495 Chr15(GRCh37):g.30437495G>A 1705 1705 NM_001355469.1:c.1705G>A p.Ala569Thr p.Ala569Thr 18 -16 5' 84.0719 8.94615 0.986827 12.254 84.0719 8.94615 0.986827 XI.27 0 0.000672 0.001782 0.000000 0.000000 0.000475 0.000000 0.000881 0.000000 0.001472 0.001782 44 14 0 0 4 0 23 0 3 65474 7856 10674 1270 8414 5598 26094 3530 2038 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 1 0 0 0 0 0 1 0 0 42 14 0 0 4 0 21 0 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.669 1.497 A Ala GCA 0.226 T Thr ACA 0.280 569 12 7 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 166.33 0.00 Tolerated 0.29 3.VI 185 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon18:c.G1705A:p.A569T GOLGA8T:uc021sha.1:exon16:c.G1498A:p.A500T . . . 0.124223605 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.345 . @ . . . . . 1 0.596 . . 161.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tAc|C552Y|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.16) . . . . . . . -0.0970 -0.190 -0.097 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.243 . . exonic exonic ncRNA_exonic . . 0.218 @ . . . . . . ENSG00000261247 GOLGA8T GOLGA8T . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.108 0.004 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.637 . . . . . . 0 . . . . . . . . . . . . 0 0.586 . . . . . 0.346 . 0.086 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.107 . . . 0 0.0001 0 0 0.0004 0 0.0002 0 0 0.0041 0.0021 0 0 0.0009 0 0.0021 0.0047 . . 0.246 . . . . . . . . 1.0E-185 0.001 0.137 . 0.137 0.008 . 0.224 . 0.291 . -0.044 . . . . . 1 1538 10 1/0 0,208,255 +. 15 30437500 C T - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 substitution synonymous exon GRCh37 30437500 30437500 Chr15(GRCh37):g.30437500C>T 1710 1710 NM_001355469.1:c.1710C>T p.Asp570= p.Asp570Asp 18 -11 5' 84.0719 8.94615 0.986827 12.254 84.0719 8.94615 0.986827 XI.48 0 0.000658 0.001666 0.000093 0.000791 0.000238 0.000000 0.000843 0.000000 0.001965 0.001666 43 13 1 1 2 0 22 0 4 65398 7802 10698 1264 8406 5602 26086 3504 2036 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 1 0 0 0 0 0 1 0 0 41 13 1 1 2 0 20 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.602 D Asp GAC 0.539 D Asp GAT 0.461 570 185 PASS . . . . . . . . . . . ENSG00000261247:ENST00000569052:exon18:c.C1710T:p.D570D GOLGA8T:uc021sha.1:exon16:c.C1503T:p.D501D . . . 0.124223605 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 161.0 . . STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q554*|GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|NR_033933.ex.16) . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 9.921e-05 0 0.0003 0 0.0001 0 0 0.0039 0.0021 0 0.0071 0 0 0.0021 0.0063 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +. 15 30437549 A AG - GOLGA8T 44410 Golgin A8 family member T NM_001355469.1 1 1994 1896 NP_001342398.1 duplication intron GRCh37 30437554 30437555 Chr15(GRCh37):g.30437554dup 1721-41 1721-41 NM_001355469.1:c.1721-41dup p.? p.? 19 18 -40 3' 71.0765 XI.88 0.937275 9.90852 71.0765 XI.88 0.937275 9.34697 0 rs537461443 no no 0 0.000000 0 0.001263 0.003543 0.000379 0.001653 0.001319 0.001690 0.001086 0.000000 0.001015 0.003543 80 24 4 2 11 9 28 0 2 63352 6774 10550 1210 8340 5326 25790 3392 1970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 24 4 2 11 9 28 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.17518248 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 137 . . INTRON(MODIFIER||||GOLGA8T|Non-coding_transcript|NON_CODING|NR_033933|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000261247 GOLGA8T GOLGA8T . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs537461443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0010 0.0003 0.0019 0.0014 0 0.0006 0.0015 0.0017 0.0050 0.0020 0.0015 0 0.0008 0 0.0019 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,76 +. 15 30696185 A G - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30696185 30696185 Chr15(GRCh37):g.30696185A>G 1720+19 1720+19 NM_001282484.1:c.1720+19T>C p.? p.? 18 18 19 5' 84.0719 8.94615 0.986827 XII.96 84.0719 8.94615 0.986827 XII.03 0 0.007712 0.003086 0.000000 0.000000 1.000000 0.333333 0.000000 0.000000 0.000000 1.000000 6 2 0 0 2 2 0 0 0 778 648 90 0 2 6 22 0 10 0.007712 0.003086 0.000000 0.000000 1.000000 0.333333 0.000000 0.000000 0.000000 3 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.008 -1.651 188 PASS . . . . . . . . . . . . . . . . 0.13084112 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . -0.6630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000186399 . GOLGA8R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0077 0 . 1 . 0 0 0.3333 . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs112937122 rs112937122 1 1538 10 1/0 0,226,255 +rs4079045 15 30696575 C T - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30696575 30696575 Chr15(GRCh37):g.30696575C>T 1467-23 1467-23 NM_001282484.1:c.1467-23G>A p.? p.? 17 16 -23 3' 85.6012 X.38 0.88557 9.96242 85.6012 X.38 0.88557 X.78 0 rs4079045 yes no Frequency 1 0.000000 0 0.002999 0.002322 0.012681 0.000000 0.000000 0.002513 0.001678 0.000000 0.000000 0.012681 18 7 7 0 0 1 3 0 0 6002 3014 552 78 44 398 1788 22 106 0.000333 0.000000 0.003623 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 16 7 5 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.693 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.8 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . -0.2918 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000221723 . GOLGA8R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374212816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0030 0.0128 0 0 0 0.0017 0 0.0025 0.0034 0.0032 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4079045 rs4079045 rs4079045 rs374212816 1 1538 10 1/0 0,255,255 +. 15 30697220 T C - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30697220 30697220 Chr15(GRCh37):g.30697220T>C 1365+90 1365+90 NM_001282484.1:c.1365+90A>G p.? p.? 15 15 90 5' 81.0413 8.27203 0.900361 7.48013 81.0413 8.27203 0.900361 7.48013 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1022 828 18 2 18 0 102 42 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 110 Genomes transition A G A>G 0.063 -0.198 200 PASS . . . . . . . . . . . . . . . . 0.16071428 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . -0.5121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000186399 . GOLGA8R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs4102151 rs4102151 rs4102151 rs112987997 1 1538 10 1/0 0,255,255 +. 15 30703424 G A - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30703424 30703424 Chr15(GRCh37):g.30703424G>A 229-22 229-22 NM_001282484.1:c.229-22C>T p.? p.? 4 3 -22 3' 72.9796 6.50556 0.311358 5.57737 72.9796 6.50556 0.311358 5.29356 0 0.000419 0.000000 0.000000 0.000000 0.000000 0.001259 0.000000 0.000000 0.000000 0.001259 1 0 0 0 0 1 0 0 0 2388 14 1252 2 110 794 110 2 104 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 1.000 1.981 204 PASS . . . . . . . . . . . . . . . . 0.17021276 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 94.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . 0.4703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic intronic . . . @ . . . . . . ENSG00000186399 FLJ00278 GOLGA8R . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0 0 0 0.0013 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs4283193 rs4283193 rs4283193 rs4283193 1 1538 10 1/0 0,235,255 +. 15 30706231 C T - GOLGA8R 44407 Golgin A8 family, member R NM_001282484.1 -1 5172 1896 NP_001269413.1 I6L899 substitution intron GRCh37 30706231 30706231 Chr15(GRCh37):g.30706231C>T 48+87 48+87 NM_001282484.1:c.48+87G>A p.? p.? 1 1 87 5' 82.2129 8.37568 0.962674 8.14638 82.2129 8.37568 0.962674 8.14638 0 Cryptic Acceptor Strongly Activated 30706228 0.001286 69.0112 1.06801 0.058895 69.8659 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 8 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 4000 Genomes transition G A G>A 0.016 0.609 221 PASS . . . . . . . . . . . . . . . . 0.22 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||GOLGA8R|mRNA|CODING|NM_001282484|) . . . . . . . -0.2841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intronic . . . @ . . . . . . ENSG00000186399 . GOLGA8R . dist\x3d2569\x3bdist\x3d140754 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs78483950 rs78483950 1 1538 10 1/0 0,255,255 +rs76938950 15 30848536 G A - GOLGA8Q 44408 Golgin A8 family member Q NM_001355476.1 1 1899 1899 NP_001342405.1 F8WBI6 substitution intron GRCh37 30848536 30848536 Chr15(GRCh37):g.30848536G>A 396+11 396+11 NM_001355476.1:c.396+11G>A p.? p.? 6 6 11 5' 92.583 10.0326 0.994998 13.1478 92.583 10.0326 0.994998 12.0648 0 rs76938950 no no 0 G 0.000000 0 0.002093 0.000252 0.006112 0.001786 0.003734 0.009253 0.000438 0.000271 0.001344 0.009253 97 2 35 1 22 26 8 1 2 46352 7932 5726 560 5892 2810 18250 3694 1488 0.000129 0.000000 0.000000 0.000000 0.001018 0.000000 0.000000 0.000000 0.000000 3 0 0 0 3 0 0 0 0 91 2 35 1 16 26 8 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.016 -0.360 229 PASS . . . . . . . . . . . . . . . . 0.24074075 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 162.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic intergenic . . . @ . . . 0.52 0.28 182 ENSG00000178115 FLJ00278 . . . dist\x3d142073\x3bdist\x3d16222 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs76938950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0047 0.0070 0.0029 0.0041 0.0041 0.0014 0.0031 0.0093 0 0.0002 0 0 0.0027 0 0 0 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs76938950 rs76938950 1 1538 10 1/0 0,218,255 +. 15 30853291 A G - GOLGA8Q 44408 Golgin A8 family member Q NM_001355476.1 1 1899 1899 NP_001342405.1 F8WBI6 substitution missense exon GRCh37 30853291 30853291 Chr15(GRCh37):g.30853291A>G 1322 1322 NM_001355476.1:c.1322A>G p.Gln441Arg p.Gln441Arg 15 46 3' 76.921 8.29815 0.91017 9.36929 76.921 8.29815 0.91017 9.63296 0 0.009054 0.029412 0.027027 0.000000 0.000000 0.000000 0.005780 0.004525 0.047619 0.029412 9 1 2 0 0 0 2 2 2 994 34 74 14 28 14 346 442 42 0.002012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004525 0.000000 1 0 0 0 0 0 0 1 0 7 1 2 0 0 0 2 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.142 0.044 Q Gln CAG 0.744 R Arg CGG 0.207 441 12 2 Chimp 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 246.14 0.00 Tolerated 0.64 III.25 187 PASS . . . . . . . . . . . ENSG00000178115:ENST00000562783:exon15:c.A1322G:p.Q441R . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.002 . @ . . . . . 3 0.004 . . 62.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5724 -0.260 -0.572 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.210 . . exonic upstream\x3bdownstream intergenic . . 0.077 @ . . . 0.23 0.12 182 ENSG00000178115 . . . . dist\x3d146828\x3bdist\x3d11467 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.001 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 . . . . . . 0 . . . . . . . . . . . . . 0.021 . . . . . 0.109 . 0.195 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.015 . . . . 0 0 . . . 0 0 0 0.0294 0.0094 0.0370 0 0 0.0045 0.0058 0.05 . . 0.246 . . . . . . . . 1.0E-187 0.000 0.063 . 0.043 0.014 . 0.042 . 0.002 . -0.531 . rs1294124 rs1294124 rs295712 rs113064986 1 1538 10 1/0 0,249,255 +. 15 30854036 C G - GOLGA8Q 44408 Golgin A8 family member Q NM_001355476.1 1 1899 1899 NP_001342405.1 F8WBI6 substitution intron GRCh37 30854036 30854036 Chr15(GRCh37):g.30854036C>G 1469+24 1469+24 NM_001355476.1:c.1469+24C>G p.? p.? 16 16 24 5' 70.4593 7.67679 0.862374 8.09257 70.4593 7.67679 0.862374 8.38288 0 transversion C G C>G 0.016 0.528 179 PASS . . . . . . . . . . . . . . . . 0.1119403 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 134.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream\x3bdownstream intergenic . . . @ . . . . . . ENSG00000221593 . . . . dist\x3d147573\x3bdist\x3d10722 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +. 15 30854544 C G - GOLGA8Q 44408 Golgin A8 family member Q NM_001355476.1 1 1899 1899 NP_001342405.1 F8WBI6 substitution missense exon GRCh37 30854544 30854544 Chr15(GRCh37):g.30854544C>G 1739 1739 NM_001355476.1:c.1739C>G p.Thr580Ser p.Thr580Ser 19 16 3' 71.0765 X.84 0.941776 VIII.95 71.0765 X.84 0.924405 8.39832 -0.00614831 Cryptic Donor Strongly Activated 30854539 5.56535 0.097358 74.1084 8.70331 0.976433 86.8044 0.001573 0.010840 0.000416 0.000000 0.002191 0.000882 0.000871 0.000000 0.000000 0.010840 18 8 1 0 5 1 3 0 0 11440 738 2404 112 2282 1134 3444 956 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 8 1 0 5 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.283 -0.360 T Thr ACC 0.361 S Ser AGC 0.243 580 12 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 1 III.18 178 PASS . . . . . . . . . . . ENSG00000178115:ENST00000562783:exon19:c.C1739G:p.T580S . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.013 . @ . . . . . 3 0.039 . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4362 -0.237 -0.436 n . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.190 . . exonic downstream intergenic . . 0.181 @ . . . . . . ENSG00000178115 . . . . dist\x3d148081\x3bdist\x3d10214 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.000 0.000 . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . 0 . . . . . . . . . . . . . 0.010 . . . . . 0.124 . 0.003 . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . 0.0192 0.0015 0.0005 0 0.0019 0 0.0022 0 0.0009 0.0095 0.0017 0 0 0.0028 0 0.0004 0 . . 0.246 . . . . . . . . 1.0E-178 0.867 0.305 . 0.108 0.192 . 0.151 . 0.075 . -0.041 . rs62016495 rs62016495 rs62016495 rs62016495 1 1538 10 1/0 0,253,255 +. 15 30900208 T C - GOLGA8H 37443 Golgin A8 family, member H NM_001282490.1 1 5261 1899 NP_001269419.1 P0CJ92 substitution intron GRCh37 30900208 30900208 Chr15(GRCh37):g.30900208T>C 310-25 310-25 NM_001282490.1:c.310-25T>C p.? p.? 5 4 -25 3' 79.5333 11.1638 0.973755 11.1594 79.5333 11.1638 0.973755 XI.57 0 30900210 -24.7594 0.000053 0.000071 0.000000 0.000000 0.000000 0.000383 0.000024 0.000000 0.000000 0.000383 5 1 0 0 0 3 1 0 0 94220 14060 12160 2304 9220 7834 41412 4550 2680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.807 0.125 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||GOLGA8H|mRNA|CODING|NM_001282490|) . . . . . . . 0.0878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intronic . . . @ . . . 0.5 0.32 182 ENSG00000270016 . GOLGA8H . dist\x3d1139\x3bdist\x3d5928 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.231e-05 0 0 0 0 3.697e-05 0 0.0004 0.0001 3.331e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs4042398 rs4042398 rs4042398 rs4042398 1 1538 10 1/0 0,247,255 +. 15 30905497 G A - GOLGA8H 37443 Golgin A8 family, member H NM_001282490.1 1 5261 1899 NP_001269419.1 P0CJ92 substitution intron GRCh37 30905497 30905497 Chr15(GRCh37):g.30905497G>A 1368+99 1368+99 NM_001282490.1:c.1368+99G>A p.? p.? 15 15 99 5' 81.0413 8.27203 0.900361 7.63627 81.0413 8.27203 0.900361 7.63627 0 transition G A G>A 0.291 0.125 210 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||GOLGA8H|mRNA|CODING|NM_001282490|) . . . . . . . -0.2933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream intronic . . . @ . . . . . . ENSG00000261794 JB175342 GOLGA8H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +. 15 30906543 A AG - GOLGA8H 37443 Golgin A8 family, member H NM_001282490.1 1 5261 1899 NP_001269419.1 P0CJ92 duplication intron GRCh37 30906548 30906549 Chr15(GRCh37):g.30906548dup 1724-41 1724-41 NM_001282490.1:c.1724-41dup p.? p.? 19 18 -40 3' 71.0765 XI.88 0.905549 9.57235 71.0765 XI.88 0.905549 9.0108 0 0.000114 0.000000 0.000000 0.000000 0.000000 0.001155 0.000064 0.000000 0.000000 0.001155 9 0 0 0 0 7 2 0 0 78670 13058 11480 1456 8994 6060 31226 4062 2334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 0 0 0 7 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.13636364 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 88 . . INTRON(MODIFIER||||GOLGA8H|mRNA|CODING|NM_001282490|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intronic . . . . . . . . . . ENSG00000261794 JB175342 GOLGA8H . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0001 0 0.0012 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,87 +. 15 32449874 CTG C - CHRNA7 1960 Cholinergic receptor, nicotinic, alpha 7 (neuronal) NM_001190455.2 1 3433 1596 NP_001177384.1 deletion frameshift exon GRCh37 32449875 32449876 Chr15(GRCh37):g.32449875_32449876del 584 585 NM_001190455.2:c.584_585del p.Leu195Glnfs*41 p.Leu195Glnfs*41 6 118511 67 3' 76.1903 6.17035 0.716554 4.24287 76.1903 6.17035 0.716554 4.83147 0 Neurotransmitter-gated ion-channel ligand-binding Neurotransmitter-gated ion-channel rs67158670 yes no Frequency 1 0.000000 0 0.000033 0.000000 0.000078 0.000000 0.000132 0.000000 0.000026 0.000000 0.000000 0.000132 6 0 2 0 2 0 2 0 0 181212 10490 25766 6634 15174 24118 77026 18098 3906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 2 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Exomes 4303 2221 6524 19 3 22 0.00439611 0.00134892 0.00336083 0.00439611 0.00134892 0.00336083 13 COSM5002498|COSM5002498 Pancreas|Large intestine 0.000569|0.000448 1758|2231 TG 255 Pass . . . . . . . . . . . . . . . . 0.16129032 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 93 . . . 0.0016 0.0048 0.0064 0.0013 0.0034 0.0044 . . . . . . . . . . 6.606e-05 . . . 0 5.432e-05 0.0001 0 0 8.389e-05 0 0 0 3.138e-05 0.0001 0 0 3.275e-05 0 0 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000175344 CHRNA7 CHRNA7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374603734 . . . . . . . . . . . . . . . . . . . . . . . 0.004751 . . . . . 0 3.311e-05 7.762e-05 0 0.0001 0 2.597e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0064 . rs67158670 rs67158670 rs374603734 1 1538 10 1.I 0,6,79 +. 15 32451755 G GTGT - CHRNA7 1960 Cholinergic receptor, nicotinic, alpha 7 (neuronal) NM_001190455.2 1 3433 1596 NP_001177384.1 duplication intron GRCh37 32451759 32451760 Chr15(GRCh37):g.32451757_32451759dup 881-13 881-11 NM_001190455.2:c.881-13_881-11dup p.? p.? 8 7 118511 -10 3' 87.7968 X.99 0.933165 5.75852 87.7968 X.39 0.921564 8.26028 -0.011456 rs368526087 yes no Frequency 1 0.000000 0 0.000871 0.000481 0.003240 0.000518 0.001716 0.000354 0.000250 0.000000 0.000964 0.003240 74 6 41 1 14 2 8 0 2 84932 12476 12654 1932 8158 5642 31962 10034 2074 0.000047 0.000000 0.000000 0.000000 0.000245 0.000000 0.000063 0.000000 0.000000 2 0 0 0 1 0 1 0 0 70 6 41 1 12 2 6 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 4652 2622 7274 22 12 34 0.00470689 0.00455581 0.00465244 0.00470689 0.00455581 0.00465244 7 GTT 255 Pass . . . . . . . . . . . . . . . . 0.25 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 84 . . . 0.0039 0.0049 0.0054 0.0046 0.0047 0.0047 . . . . . . . . . . 4.989e-04 . . . 0.0013 0.0023 0.0291 0.0056 0 0 0 0 0.0009 0.0042 0.0365 0.0120 0 0 0 0 . . . . . . intronic ncRNA_intronic intronic . . . . . . . . . . ENSG00000175344 DKFZp434L187 CHRNA7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368526087 . . . . . . . . . . . . . . . . . . . . . . . 0.004859 . . . . . 0.0007 0.0010 0.0033 0.0006 0.0016 0 0.0003 0.0012 0.0004 0.0002 0.0003 0.0022 0 0.0028 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0054 . rs57851846 rs57851846 rs57851846 1 1538 10 1.I 0,9,60 +. 15 32686256 T C - GOLGA8K 38652 Golgin A8 family, member K NM_001282493.1 -1 5188 1893 NP_001269422.1 substitution intron GRCh37 32686256 32686256 Chr15(GRCh37):g.32686256T>C 1365+90 1365+90 NM_001282493.1:c.1365+90A>G p.? p.? 15 15 90 5' 81.0413 8.27203 0.900361 7.26011 81.0413 8.27203 0.900361 7.26011 0 transition A G A>G 0.016 1.093 187 PASS . . . . . . . . . . . . . . . . 0.12790698 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||GOLGA8K|mRNA|CODING|NM_001282493|) . . . . . . . -0.0924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . . . . ENSG00000249931 . GOLGA8K . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs112987997 rs112987997 1 1538 10 1/0 0,235,255 +. 15 32691512 A G - GOLGA8K 38652 Golgin A8 family, member K NM_001282493.1 -1 5188 1893 NP_001269422.1 substitution intron GRCh37 32691512 32691512 Chr15(GRCh37):g.32691512A>G 310-25 310-25 NM_001282493.1:c.310-25T>C p.? p.? 5 4 -25 3' 79.5333 11.1638 0.973755 X.83 79.5333 11.1638 0.973755 XI.46 0 32691510 -24.7594 transition T C T>C 0.024 1.013 252 PASS . . . . . . . . . . . . . . . . 0.31182796 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||GOLGA8K|mRNA|CODING|NM_001282493|) . . . . . . . 0.0189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intronic . . . @ . . . 0.4 0.21 182 ENSG00000215304 ULK4P3 GOLGA8K . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs4042398 rs4042398 rs4042398 rs4042398 1 1538 10 1/0 0,248,255 +. 15 32737467 G C - GOLGA8O 44406 Golgin A8 family, member O NM_001277308.1 -1 5189 1899 NP_001264237.1 A6NCC3 substitution missense exon GRCh37 32737467 32737467 Chr15(GRCh37):g.32737467G>C 1739 1739 NM_001277308.1:c.1739C>G p.Thr580Ser p.Thr580Ser 19 16 3' 71.0765 X.84 0.941776 8.51357 71.0765 X.84 0.924405 8.51238 -0.00614831 Cryptic Donor Strongly Activated 32737472 5.56535 0.097358 74.1084 8.70331 0.976433 86.8044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.535 -0.037 T Thr ACC 0.361 S Ser AGC 0.243 580 15 1 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 1 II.99 238 PASS . . . . . . . . . . . ENSG00000206127:ENST00000509311:exon19:c.C1739G:p.T580S GOLGA8O:uc031qrg.1:exon19:c.C1739G:p.T580S GOLGA8O:NM_001277308:exon19:c.C1739G:p.T580S . . 0.26744187 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.057 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T580S|GOLGA8O|mRNA|CODING|NM_001277308|NM_001277308.ex.19) . . . . . . . -1.0306 -1.139 -1.031 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.228 @ . . . 0.35 0.27 182 ENSG00000206127 GOLGA8O GOLGA8O . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.073 . . 0.393 . . . 0.000 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.187 . 0.026 . HET 1 . . . . . . . . . . . . . 6.012 . ENST00000509311 I.63 I.63 . 1.000000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.281 0.281000 . . 1.000000 . . 1.0E-238 0.923 0.318 . 0.140 0.606 . 0.088 . 0.007 0.281 0.005 . rs62016495 rs62016495 rs62016495 rs62016495 1 1538 10 1/0 0,247,255 +rs879380608 15 32741004 A C - GOLGA8O 44406 Golgin A8 family, member O NM_001277308.1 -1 5189 1899 NP_001264237.1 A6NCC3 substitution missense exon GRCh37 32741004 32741004 Chr15(GRCh37):g.32741004A>C 970 970 NM_001277308.1:c.970T>G p.Ser324Ala p.Ser324Ala 12 96 3' 83.4217 8.54287 0.933794 7.27205 83.4217 8.54287 0.933794 7.27205 0 rs879380608 no no 0 A 0.000000 0 transversion T G T>G 0.976 0.044 S Ser TCC 0.220 A Ala GCC 0.403 324 15 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 1 II.99 255 PASS . . . . . . . . . . . . . GOLGA8O:NM_001277308:exon12:c.T970G:p.S324A . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.027 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S324A|GOLGA8O|mRNA|CODING|NM_001277308|NM_001277308.ex.12) . . . . . . . -1.2984 -1.335 -1.298 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.167 @ . . . 0.43 0.36 182 ENSG00000206127 GOLGA8O GOLGA8O . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.958 0.548 . . 37 . 0.038 . . 0.428 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.263 . 0.026 . HET 1 . . . . . . . . . . . . . VII.43 . . I.63 0.608 . 1.000000 . . . . . . 0.015 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.112 -0.112000 . . 1.000000 . . 1.0E-255 0.788 0.293 . 0.062 0.012 . 0.294 . 0.091 -0.112 0.005 . rs28447107 rs28447107 rs28447107 rs28447107 1 1538 10 1/0 0,255,255 +. 15 32741043 G C - GOLGA8O 44406 Golgin A8 family, member O NM_001277308.1 -1 5189 1899 NP_001264237.1 A6NCC3 substitution missense exon GRCh37 32741043 32741043 Chr15(GRCh37):g.32741043G>C 931 931 NM_001277308.1:c.931C>G p.Leu311Val p.Leu311Val 12 57 3' 83.4217 8.54287 0.933794 7.27205 83.4217 8.54287 0.933794 VII.53 0 New Donor Site 32741044 V.85 0.37179 77.3078 transversion C G C>G 0.472 1.900 L Leu CTG 0.404 V Val GTG 0.468 311 15 13 Coelacanth 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Deleterious 0 II.99 217 PASS . . . . . . . . . . . . . GOLGA8O:NM_001277308:exon12:c.C931G:p.L311V . . 0.20754717 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.388 . @ . . . . . 1 0.723 . . 53.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L311V|GOLGA8O|mRNA|CODING|NM_001277308|NM_001277308.ex.12) . . . . . . . -0.2451 -0.434 -0.245 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.382 . . exonic exonic exonic . . 0.228 @ . . . . . . ENSG00000206127 GOLGA8O GOLGA8O . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.932 0.390 . . 37 . 0.506 . . 0.435 . . . 0.842 0.247 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.403 . . . . . 0.372 . 0.241 . HET 0 . . . . . . . . . . . . . IX.23 . . I.63 I.63 . 0.000000 . . . . . . 0.330 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 1.250 1.250000 . . 0.000000 . . 1.0E-217 0.993 0.376 . 0.062 0.007 . 0.429 . 0.290 1.250 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 15 32888677 T C - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32888677 32888677 Chr15(GRCh37):g.32888677T>C 229-43 229-43 NM_001282494.1:c.229-43T>C p.? p.? 4 3 -43 3' 72.9796 6.50556 0.311358 5.57737 72.9796 6.50556 0.311358 5.90236 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 0 12 0 2 28 0 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.472 -0.117 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . -0.3707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.47 0.36 182 ENSG00000232653 AK310041 GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . . 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2648139 rs2648139 rs2648139 rs2648139 1 1538 10 1/0 0,234,255 +. 15 32888698 C T - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32888698 32888698 Chr15(GRCh37):g.32888698C>T 229-22 229-22 NM_001282494.1:c.229-22C>T p.? p.? 4 3 -22 3' 72.9796 6.50556 0.311358 5.57737 72.9796 6.50556 0.311358 5.29356 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 0 14 0 4 26 0 0 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1704 Exomes transition C T C>T 0.992 1.820 200 PASS . . . . . . . . . . . . . . . . 0.16091955 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . 0.3717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.44 0.3 182 ENSG00000232653 AK310041 GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . . 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs4283193 rs4283193 rs4283193 rs4283193 1 1538 10 1/0 0,237,255 +. 15 32891972 G C - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution missense exon GRCh37 32891972 32891972 Chr15(GRCh37):g.32891972G>C 835 835 NM_001282494.1:c.835G>C p.Glu279Gln p.Glu279Gln 11 -40 5' 81.5823 8.90513 0.917225 7.80481 81.5823 8.90513 0.917225 7.93941 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.929 -0.037 E Glu GAG 0.583 Q Gln CAG 0.744 279 15 11 Coelacanth 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 240.48 0.00 Tolerated 0.15 II.99 176 PASS . . . . . . . . . . . . LOC643699:uc010ubv.2:exon1:c.G16C:p.E6Q GOLGA8N:NM_001282494:exon11:c.G835C:p.E279Q . . 0.104166664 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.046 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E279Q|GOLGA8N|mRNA|CODING|NM_001282494|NM_001282494.ex.11) . . . . . . . -0.8797 -1.071 -0.880 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.276 . . exonic exonic exonic . . 0.090 @ . . . 0.45 0.31 182 ENSG00000232653 LOC643699 GOLGA8N . . . 0.076 0.157 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.244 . . 0.325 . . . 0.604 0.270 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.336 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.491 . . . . . 0.042 . 0.137 . LowAF 0.02 . . . . . . . ID\x3dCOSM1600045\x3bOCCURENCE\x3d1(central_nervous_system) . . . . . II.12 . . 0.593 -1.19 . 0.050000 . . . . . . 0.269 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.202 -0.202000 . . 0.050000 . . 1.0E-176 0.999 0.424 . 0.062 0.282 . 0.393 . 0.007 -0.202 0.693 . . . rs67450559 rs67450559 1 1538 10 1/0 0,255,255 +. 15 32892444 C G - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution missense exon GRCh37 32892444 32892444 Chr15(GRCh37):g.32892444C>G 931 931 NM_001282494.1:c.931C>G p.Leu311Val p.Leu311Val 12 57 3' 83.4217 8.54287 0.933794 7.27205 83.4217 8.54287 0.933794 VII.53 0 New Donor Site 32892443 V.85 0.37179 77.3078 transversion C G C>G 0.480 1.255 L Leu CTG 0.404 V Val GTG 0.468 311 15 12 Coelacanth 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Deleterious 0 II.99 242 PASS . . . . . . . . . . . . LOC643699:uc010ubv.2:exon2:c.C112G:p.L38V GOLGA8N:NM_001282494:exon12:c.C931G:p.L311V . . 0.2857143 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.386 . @ . . . . . 1 0.640 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L311V|GOLGA8N|mRNA|CODING|NM_001282494|NM_001282494.ex.12) . . . . . . . -0.5498 -0.756 -0.550 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.382 . . exonic exonic exonic . . 0.168 @ . . . . . . ENSG00000232653 LOC643699 GOLGA8N . . . 0.187 0.180 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.067 0.003 . . 37 . 0.358 . . 0.342 . . . 0.842 0.233 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.405 . . . . . 0.241 . 0.149 . HET 0.01 . . . . . . . . . . . . . 7.0502 . . 0.633 0.633 . 0.000000 . . . . . . 0.219 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.606 0.606000 . . 0.000000 . . 1.0E-242 0.929 0.320 . 0.135 0.031 . 0.345 . 0.275 0.606 0.642 . . . . . 1 1538 10 1/0 0,255,255 +. 15 32892483 T G - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution missense exon GRCh37 32892483 32892483 Chr15(GRCh37):g.32892483T>G 970 970 NM_001282494.1:c.970T>G p.Ser324Ala p.Ser324Ala 12 96 3' 83.4217 8.54287 0.933794 7.27205 83.4217 8.54287 0.933794 7.27205 0 transversion T G T>G 0.504 -1.409 S Ser TCC 0.220 A Ala GCC 0.403 324 15 1 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 353.86 0.00 Tolerated 1 II.99 255 PASS . . . . . . . . . . . . LOC643699:uc010ubv.2:exon2:c.T151G:p.S51A GOLGA8N:NM_001282494:exon12:c.T970G:p.S324A . . 0.61904764 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.008 . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S324A|GOLGA8N|mRNA|CODING|NM_001282494|NM_001282494.ex.12) . . . . . . . -1.1769 -1.349 -1.177 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.096 @ . . . 0.42 0.45 182 ENSG00000232653 LOC643699 GOLGA8N . . . 0.247 0.186 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.019 0.001 . . 37 . 0.047 . . 0.461 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.012 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . 0.188 . 0.031 . HET 1 . . . . . . . . . . . . . 6.0411 . . 0.633 -0.998 . 1.000000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -1.649 -1.649000 . . 1.000000 . . 1.0E-255 0.995 0.385 . 0.108 0.017 . 0.343 . 0.050 -1.649 -0.960 . rs28447107 rs28447107 rs28447107 rs28447107 1 1538 10 1/0 0,255,255 +. 15 32894301 C T - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32894301 32894301 Chr15(GRCh37):g.32894301C>T 1276+12 1276+12 NM_001282494.1:c.1276+12C>T p.? p.? 14 14 12 5' 83.8893 X.72 0.713715 6.73406 83.8893 X.72 0.713715 6.25429 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.008 -0.360 191 PASS . . . . . . . . . . . . . . . . 0.13709678 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . -0.4194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intronic . . . @ . . . 0.59 0.14 182 ENSG00000232653 DQ572979 GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs62002972 rs62002972 rs798090 rs62002972 1 1538 10 1/0 0,221,255 +. 15 32894824 T TC - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 duplication intron GRCh37 32894829 32894830 Chr15(GRCh37):g.32894829dup 1368+17 1368+17 NM_001282494.1:c.1368+17dup p.? p.? 15 15 17 5' 81.0413 8.27203 0.900361 7.26011 81.0413 8.27203 0.900361 7.59523 0 0.000619 0.000000 0.000000 0.000000 0.000000 0.000000 0.001706 0.000000 0.000000 0.001706 2 0 0 0 0 0 2 0 0 3230 466 116 36 96 0 1172 1222 122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 70 Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.2254902 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 102 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . . . . . . . . ENSG00000232653 . GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0 0.0017 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs5811602 rs5811602 rs5811602 1 1538 10 1.I 0,8,65 +rs112987997 15 32894902 A G - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32894902 32894902 Chr15(GRCh37):g.32894902A>G 1368+90 1368+90 NM_001282494.1:c.1368+90A>G p.? p.? 15 15 90 5' 81.0413 8.27203 0.900361 7.26011 81.0413 8.27203 0.900361 7.26011 0 rs112987997 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182 56 0 4 4 0 98 8 12 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 431 Genomes transition A G A>G 0.000 -0.360 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 116.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . -0.5753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream\x3bdownstream intronic . . . @ . . . 0.28 0.06 182 ENSG00000232653 . GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112987997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs4102151 rs4102151 rs4102151 rs112987997 1 1538 10 1/0 0,220,255 +rs199840818 15 32895511 C G - GOLGA8N 44405 Golgin A8 family, member N NM_001282494.1 1 5329 1899 NP_001269423.1 F8WBI6 substitution intron GRCh37 32895511 32895511 Chr15(GRCh37):g.32895511C>G 1469+24 1469+24 NM_001282494.1:c.1469+24C>G p.? p.? 16 16 24 5' 70.4593 7.67679 0.862374 8.09257 70.4593 7.67679 0.862374 8.38288 0 rs199840818 yes no Frequency 1 0.000000 0 0.004623 0.001566 0.015363 0.000000 0.000000 0.000000 0.006841 0.003284 0.005734 0.015363 131 13 11 0 0 0 91 11 5 28334 8300 716 220 1574 0 13302 3350 872 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 13 11 0 0 0 91 11 5 0 0 0 0 0 0 0 0 0 RF 32 Genomes transversion C G C>G 0.000 0.286 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 165.0 . . INTRON(MODIFIER||||GOLGA8N|mRNA|CODING|NM_001282494|) . . . . . . . -0.4067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream intronic . . . @ . . . 0.69 0.3 182 ENSG00000221405 . GOLGA8N . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199840818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0046 0.0154 0 0 0.0033 0.0068 0.0057 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . rs199840818 rs199840818 1 1538 10 1/0 0,208,255 +rs183464547 15 33952400 C T - RYR3 10485 Ryanodine receptor 3 NM_001036.4 1 15574 14613 NP_001027.3 Q15413 substitution synonymous exon GRCh37 33952400 33952400 Chr15(GRCh37):g.33952400C>T 4398 4398 NM_001036.4:c.4398C>T p.Asn1466= p.Asn1466Asn 34 180903 3 3' 71.2148 6.39792 0.203597 8.21058 71.2148 5.96459 0.147881 7.88594 -0.113796 Cryptic Acceptor Weakly Activated 33952417 0.727516 0.002699 71.0928 0.787492 0.006192 71.0928 B30.2/SPRY domain rs183464547 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000088 0.000061 0.000162 0.000000 0.000000 0.000000 0.000137 0.000000 0.000205 0.000162 16 1 4 0 0 0 10 0 1 182480 16430 24746 8526 11868 22748 73044 20236 4882 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 1 4 0 0 0 10 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8101 4046 12147 1 0 1 0.000123426 0 8.23181e-05 0.000123426 0 8.23181e-05 35 COSM5962348|COSM5962348 Large intestine|Breast 0.000418|0.000408 2391|2453 transition C T C>T 0.646 -0.521 N Asn AAC 0.536 N Asn AAT 0.464 1466 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.47674417 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.3653 . . . . . . . . 4.233e-05 . . . 0 5.121e-05 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.25 0.26 182 ENSG00000198838 RYR3 RYR3 . . . . . . 14 0.000215464 64976 13 0.000216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183464547 . . . . . . . . . . . . . . . . . . . . . . . 0.000082 . . . . . 0 9.24e-05 0.0002 0 0 0 0.0002 0 0 0.0001 6.457e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs183464547 rs183464547 1 1538 10 1/0 0,234,253 +rs2258704 15 34675050 C T - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 substitution missense exon GRCh37 34675050 34675050 Chr15(GRCh37):g.34675050C>T 1055 1055 NM_181077.3:c.1055G>A p.Arg352Gln p.Arg352Gln 11 616180 -53 5' 77.0459 6.28946 0.054854 7.71968 77.0459 6.28946 0.054854 7.56215 0 rs2258704 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM6385676 Thyroid 0.001339 747 transition G A G>A 0.000 -1.328 R Arg CGG 0.207 Q Gln CAG 0.744 352 12 8 Zebrafish 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.65 0.00 Tolerated 0.17 III.23 good 8.764E-1 0.001752 255 PASS . . . . . . . . . . . . . GOLGA8A:NM_181077:exon11:c.G1055A:p.R352Q . . 0.64102566 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.039 . . 39.0 . . . . . . . . . . -1.9460 -1.940 -1.946 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.103 @ . . . 0.47 0.24 182 ENSG00000175265 GOLGA8A GOLGA8A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.056 . . 0.336 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.126 . . 0.013 . . . . . . 0 0.056 . . . . . 0.146 . 0.052 . HET 1 rs2258704 . . . . . . . . . . . . V.01 . . 0.514 -0.793 . 1.000000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -1.309 -1.309000 . . 1.000000 . . 1.0E-255 0.007 0.175 . 0.043 0.027 . 0.133 . 0.023 -1.309 -1.906 . rs2258704 rs2258704 rs2258704 rs139649912 1 1538 10 1/0 0,255,255 +rs2258704 15 34675050 C T - MIR1233-1 33929 MicroRNA 1233-1 NR_036050.1 -1 82 0 substitution upstream GRCh37 34675050 34675050 Chr15(GRCh37):g.34675050C>T -699 -699 NR_036050.1:n.-699G>A p.? p.? 1 rs2258704 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM6385676 Thyroid 0.001339 747 transition G A G>A 0.000 -1.328 255 PASS . . . . . . . . . . . . . GOLGA8A:NM_181077:exon11:c.G1055A:p.R352Q . . 0.64102566 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.039 . . 39.0 . . . . . . . . . . -1.9460 -1.940 -1.946 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.103 @ . . . 0.47 0.24 182 ENSG00000175265 GOLGA8A GOLGA8A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.056 . . 0.336 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.126 . . 0.013 . . . . . . 0 0.056 . . . . . 0.146 . 0.052 . HET 1 rs2258704 . . . . . . . . . . . . V.01 . . 0.514 -0.793 . 1.000000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -1.309 -1.309000 . . 1.000000 . . 1.0E-255 0.007 0.175 . 0.043 0.027 . 0.133 . 0.023 -1.309 -1.906 . rs2258704 rs2258704 rs2258704 rs139649912 1 1538 10 1/0 0,255,255 +rs2258704 15 34675050 C T - MIR1233-2 38277 MicroRNA 1233-2 NR_036261.1 -1 82 0 substitution upstream GRCh37 34675050 34675050 Chr15(GRCh37):g.34675050C>T -699 -699 NR_036261.1:n.-699G>A p.? p.? 1 rs2258704 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM6385676 Thyroid 0.001339 747 transition G A G>A 0.000 -1.328 255 PASS . . . . . . . . . . . . . GOLGA8A:NM_181077:exon11:c.G1055A:p.R352Q . . 0.64102566 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.039 . . 39.0 . . . . . . . . . . -1.9460 -1.940 -1.946 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.103 @ . . . 0.47 0.24 182 ENSG00000175265 GOLGA8A GOLGA8A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.023 0.001 . . 37 . 0.056 . . 0.336 . . . 0.001 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.126 . . 0.013 . . . . . . 0 0.056 . . . . . 0.146 . 0.052 . HET 1 rs2258704 . . . . . . . . . . . . V.01 . . 0.514 -0.793 . 1.000000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -1.309 -1.309000 . . 1.000000 . . 1.0E-255 0.007 0.175 . 0.043 0.027 . 0.133 . 0.023 -1.309 -1.906 . rs2258704 rs2258704 rs2258704 rs139649912 1 1538 10 1/0 0,255,255 +. 15 34677275 C T - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 substitution missense exon GRCh37 34677275 34677275 Chr15(GRCh37):g.34677275C>T 541 541 NM_181077.3:c.541G>A p.Ala181Thr p.Ala181Thr 7 616180 -27 5' 83.6222 7.93332 0.957195 5.13707 83.6222 7.93332 0.957195 4.79254 0 0.001109 0.000000 0.001768 0.000000 0.001279 0.002664 0.000118 0.000000 0.004373 0.002664 24 0 6 0 5 9 1 0 3 21642 1064 3394 446 3908 3378 8454 312 686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 0 6 0 5 9 1 0 3 0 0 0 0 0 0 0 0 0 RF 42 Exomes COSM5821603 Liver 0.001265 2371 transition G A G>A 0.000 -0.682 A Ala GCC 0.403 T Thr ACC 0.361 181 12 3 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 1 III.33 bad 1.194E-5 2.111E-5 255 PASS . . . . . . . . . . . . . GOLGA8A:NM_181077:exon7:c.G541A:p.A181T . . 0.3846154 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.030 . . 78.0 . . . . . . . . . . -1.3436 -1.486 -1.344 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.100 . . exonic exonic exonic . . 0.104 @ . . . . . . ENSG00000175265 GOLGA8A GOLGA8A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.020 0.001 . . 37 . 0.054 . . 0.401 . . . 0.289 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.318 . . 0.240 . . . . . . 0 0.049 . . . . . . . 0.127 . HET 0.54 . . . . . . . . . . . . . . . . 0.379 -0.758 . 1.000000 . . . . . . 0.004 . . . 0 0.0011 0.0018 0 0.0013 0 0.0001 0.0044 0.0027 . . . . . . . . . . 0.558 . -0.704 -0.704000 . . 1.000000 . . 1.0E-255 0.216 0.243 . 0.062 0.042 . 0.164 . 0.247 -0.704 0.057 . . . . . 1 1538 10 1/0 0,255,255 +rs9959 15 34680037 C T - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 substitution synonymous exon GRCh37 34680037 34680037 Chr15(GRCh37):g.34680037C>T 165 165 NM_181077.3:c.165G>A p.Glu55= p.Glu55Glu 2 616180 -4 5' 71.0537 7.38896 0.415428 7.86705 71.0537 7.38896 0.752704 8.58396 0.270625 New Acceptor Site 34680035 3.53038 0.002731 68.5245 rs9959 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM5428337 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.008 -1.086 E Glu GAG 0.583 E Glu GAA 0.417 55 255 PASS . . . . . . . . . . . . GOLGA8A:uc001zii.3:exon2:c.G165A:p.E55E GOLGA8A:NM_181077:exon2:c.G165A:p.E55E . . 0.6964286 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 56.0 . . . . . . . . . . -0.5061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.71 0.59 182 ENSG00000175265 GOLGA8A GOLGA8A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9959 rs9959 rs9959 rs141305972 1 1538 10 1/0 0,255,255 +. 15 34681761 G T - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 substitution intron GRCh37 34681761 34681761 Chr15(GRCh37):g.34681761G>T 48+84 48+84 NM_181077.3:c.48+84C>A p.? p.? 1 1 616180 84 5' 82.523 9.06409 0.978786 7.24418 82.523 9.06409 0.978786 7.24418 0 transversion C A C>A 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.5934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000175265 GOLGA8A GOLGA8A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 34681791 CGTCG C - GOLGA8A 31972 Golgin A8 family, member A NM_181077.3 -1 4264 1812 NP_851422.1 A8MQT2 deletion intron GRCh37 34681792 34681795 Chr15(GRCh37):g.34681792_34681795del 48+50 48+53 NM_181077.3:c.48+50_48+53del p.? p.? 1 1 616180 50 5' 82.523 9.06409 0.978786 7.24418 82.523 9.06409 0.978786 7.69695 0 CGAC 255 Pass . . . . . . . . . . . . . . . . 0.40350878 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000175265 GOLGA8A GOLGA8A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,39 +rs138276220 15 34821271 C T - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution missense exon GRCh37 34821271 34821271 Chr15(GRCh37):g.34821271C>T 1055 1055 NM_001023567.4:c.1055G>A p.Arg352Gln p.Arg352Gln 11 609619 -53 5' 77.0459 6.28946 0.054854 7.71968 77.0459 6.28946 0.054854 7.56215 0 rs138276220 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.992 0.528 R Arg CGG 0.207 Q Gln CAG 0.744 352 12 8 Zebrafish 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.65 0.00 Tolerated 0.17 III.23 good 8.532E-1 0.001761 255 PASS . . . . . . . . . . . . . GOLGA8B:NM_001023567:exon11:c.G1055A:p.R352Q . . 0.54761904 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.135 . @ . . . . . 1 0.165 . . 42.0 . . . . . . . . . . -1.9074 -1.814 -1.907 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.157 @ . . . 0.44 0.31 182 ENSG00000215252 GOLGA8B GOLGA8B . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.394 0.017 . . 37 . 0.060 . . 0.385 . . . 0.001 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.026 . . . . . 0.107 . 0.049 . HET 1 rs138276220 . . . . . . . . . . . . IV.63 . . I.41 0.433 . 1.000000 . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.159 0.159000 . . 1.000000 . . 1.0E-255 0.911 0.315 . 0.016 0.175 . 0.160 . 0.015 0.159 0.006 . rs2258704 rs2258704 rs2258704 rs138276220 1 1538 10 1/0 0,255,255 +. 15 34822329 C G - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution intron GRCh37 34822329 34822329 Chr15(GRCh37):g.34822329C>G 654+54 654+54 NM_001023567.4:c.654+54G>C p.? p.? 9 8 609619 -54 3' 78.1151 VI.92 0.749076 7.38538 78.1151 VI.92 0.749076 7.27693 0 transversion G C G>C 0.008 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.47058824 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 102.0 . . . . . . . . . . 0.0264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.38 182 . GOLGA8B GOLGA8B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3816947 rs3816947 rs3816947 rs3816947 1 1538 10 1/0 0,255,255 +rs765375876 15 34824195 T C - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution synonymous exon GRCh37 34824195 34824195 Chr15(GRCh37):g.34824195T>C 291 291 NM_001023567.4:c.291A>G p.Gln97= p.Gln97Gln 4 609619 6 3' 79.5333 9.59466 0.948188 9.86484 79.5333 9.59466 0.944981 9.75543 -0.00112741 rs765375876 yes no Frequency 1 T 0.000000 0 0.000721 0.000190 0.001418 0.000000 0.000000 0.000000 0.001035 0.001063 0.000000 0.001418 37 2 15 0 0 0 18 2 0 51324 10506 10576 1568 3462 4536 17392 1882 1402 0.000156 0.000000 0.000189 0.000000 0.000000 0.000000 0.000230 0.001063 0.000000 4 0 1 0 0 0 2 1 0 29 2 13 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.732 -1.005 Q Gln CAA 0.256 Q Gln CAG 0.744 97 255 PASS . . . . . . . . . . . . GOLGA8B:uc001ziq.3:exon4:c.A291G:p.Q97Q GOLGA8B:NM_001023567:exon4:c.A291G:p.Q97Q . . 0.36585367 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 41.0 . . . . . . . . . . 0.1361 . . . . . . . . 2.804e-04 . . . 0 0.0011 0.0192 0 0 0 0 0 0 0.0063 0.0227 0 0 0 0.5 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.2 182 ENSG00000215252 GOLGA8B GOLGA8B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs765375876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0006 0.0014 0 0 0.0023 0.0007 0 0 0.0002 0.0011 0.0029 0 0 0 0.0032 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62017540 rs62017540 rs1137066 rs1137066 1 1538 10 1/0 0,255,255 +rs150525716 15 34826258 C T - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution synonymous exon GRCh37 34826258 34826258 Chr15(GRCh37):g.34826258C>T 165 165 NM_001023567.4:c.165G>A p.Glu55= p.Glu55Glu 2 609619 -4 5' 71.0537 7.38896 0.415428 7.86705 71.0537 7.38896 0.752704 8.58396 0.270625 New Acceptor Site 34826256 3.53038 0.002731 68.5245 rs150525716 no no 0 C 0.000000 0 transition G A G>A 0.390 1.174 E Glu GAG 0.583 E Glu GAA 0.417 55 255 PASS . . . . . . . . . . . . GOLGA8B:uc001ziq.3:exon2:c.G165A:p.E55E GOLGA8B:NM_001023567:exon2:c.G165A:p.E55E . . 0.68421054 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . 0.1629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.3 182 ENSG00000215252 GOLGA8B GOLGA8B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150525716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs9959 rs9959 rs9959 rs150525716 1 1538 10 1/0 0,255,255 +. 15 34827982 G T - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 substitution intron GRCh37 34827982 34827982 Chr15(GRCh37):g.34827982G>T 48+84 48+84 NM_001023567.4:c.48+84C>A p.? p.? 1 1 609619 84 5' 82.523 9.06409 0.978786 7.24418 82.523 9.06409 0.978786 7.24418 0 transversion C A C>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.36585367 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . 0.1954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . GOLGA8B GOLGA8B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 34828012 CGTCG C - GOLGA8B 31973 Golgin A8 family, member B NM_001023567.4 -1 4271 1812 NP_001018861.3 A8MQT2 deletion intron GRCh37 34828013 34828016 Chr15(GRCh37):g.34828013_34828016del 48+50 48+53 NM_001023567.4:c.48+50_48+53del p.? p.? 1 1 609619 50 5' 82.523 9.06409 0.978786 7.24418 82.523 9.06409 0.978786 7.69695 0 CGAC 255 Pass . . . . . . . . . . . . . . . . 0.33962265 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . GOLGA8B GOLGA8B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +rs370495874 15 40033977 T C - FSIP1 21674 Fibrous sheath interacting protein 1 NM_001324338.1 -1 2716 1746 NP_001311267.1 Q8NA03 substitution intron GRCh37 40033977 40033977 Chr15(GRCh37):g.40033977T>C 655+29 655+29 NM_001324338.1:c.655+29A>G p.? p.? 6 6 615795 29 5' 77.3681 7.84418 0.863633 0.825222 77.3681 7.84418 0.863633 0.969956 0 Cryptic Acceptor Weakly Activated 40033966 2.64725 0.000939 73.3374 2.80993 0.001114 73.4085 rs370495874 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001403 0.000518 0.000555 0.000000 0.000000 0.000035 0.002099 0.003359 0.000981 0.003359 364 12 18 0 0 1 248 79 6 259354 23164 32440 9664 17848 28428 118174 23518 6118 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000085 0.000000 2 0 0 0 0 0 1 1 0 360 12 18 0 0 1 246 77 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4401 12976 19 3 22 0.00221084 0.000681199 0.00169257 0.00221084 0.000681199 0.00169257 59 transition A G A>G 0.000 0.125 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.6216216 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||FSIP1|mRNA|CODING|NM_152597|) 0.0007 0.0017 0.0022 0.0007 0.0017 0.0022 . 0.2695 . . . . . . . . 1.398e-03 . . . 0.0006 0.0012 0.0008 0 0.0035 0.0019 0 8.063e-05 0.0004 0.0018 0.0008 0 0.0038 0.0028 0 8.105e-05 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.27 0.25 182 ENSG00000150667 FSIP1 FSIP1 . . . . . . 122 0.00187762 64976 120 0.00200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370495874 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832978 0.001693 . . . . . 0.0004 0.0014 0.0006 0 0 0.0034 0.0021 0.0012 3.518e-05 0.0007 0.0015 0 0 0 0.0029 0.0021 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0022 . . rs370495874 rs370495874 1 1538 10 1/0 0,255,255 +. 15 40645347 T TGA - PHGR1 37226 Proline/histidine/glycine-rich 1 NM_001145643.1 1 436 249 NP_001139115.1 C9JFL3 insertion intron GRCh37 40645348 40645349 Chr15(GRCh37):g.40645348_40645349insAG -111 -110 NM_001145643.1:c.-26-85_-26-84insAG p.? p.? 2 1 -84 3' 84.859 3.17268 0.601196 0 84.859 3.17268 0.601196 0 0 Cryptic Donor Strongly Activated 40645345 0.002345 53.37 2.61809 0.003628 64.1553 AG 255 Pass . . . . . . . . . . . . . . . . 0.4375 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . INTRON(MODIFIER||||PHGR1|mRNA|CODING|NM_001145643|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000233041 PHGR1 PHGR1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,36 +rs185769166 15 40681990 C G - KNSTRN 30767 Kinetochore-localized astrin/SPAG5 binding protein NM_033286.3 1 1757 951 NP_150628.3 Q9Y448 substitution intron GRCh37 40681990 40681990 Chr15(GRCh37):g.40681990C>G 592-47 592-47 NM_033286.3:c.592-47C>G p.? p.? 6 5 614718 -47 3' 76.5354 9.12785 0.713215 5.62218 76.5354 9.12785 0.713215 5.41759 0 New Donor Site 40681989 0.173929 0.027879 62.6753 rs185769166 yes no Frequency/1000G 2 C 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.000743 0.000000 0.000000 0.000000 0.000000 0.000743 14 0 0 0 14 0 0 0 0 276430 23986 34386 10118 18850 30758 126154 25734 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 1.013 255 PASS . . . . . . . . . . . . . . . . 0.52747256 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . 0.1633 . . . . . . . . 5.578e-05 . . . 0 3.338e-05 0 0.0005 0 0 0 0 0 4.75e-05 0 0.0006 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.39 0.08 182 ENSG00000128944 KNSTRN KNSTRN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185769166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.V 0 5.296e-05 0 0 0.0008 0 0 0 0 0 3.228e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201510924 15 41625167 C T - NUSAP1 18538 Nucleolar and spindle associated protein 1 NM_016359.4 1 2454 1326 NP_057443.2 Q9BXS6 substitution synonymous exon GRCh37 41625167 41625167 Chr15(GRCh37):g.41625167C>T 12 12 NM_016359.4:c.12C>T p.Pro4= p.Pro4Pro 1 612818 -82 5' 74.9285 7.86086 0.745655 4.93754 74.9285 7.86086 0.745655 4.93754 0 Cryptic Acceptor Weakly Activated 41625177 1.12296 0.039406 76.6921 0.694417 0.047099 79.9748 rs201510924 yes no Frequency/1000G 2 C 0.000000 0 0.003594 0.000000 0.008200 0.000000 0.004000 0.008600 0.003624 0.001121 0.001508 0.007852 0.000054 0.003167 0.004844 0.004162 0.004088 0.007852 983 26 51 78 1 95 600 106 26 271282 23188 33826 9934 18648 29994 123864 25468 6360 0.000037 0.000000 0.000059 0.000000 0.000000 0.000000 0.000048 0.000079 0.000000 5 0 1 0 0 0 3 1 0 973 26 49 78 1 95 594 104 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8223 3809 12032 35 5 40 0.00423831 0.00131096 0.00331345 0.00423831 0.00131096 0.00331345 34 transition C T C>T 0.961 0.125 P Pro CCC 0.328 P Pro CCT 0.283 4 255 PASS . 0.0023 0.01 . 0.004 . 0.0036 0.0086 . 0.004 0.0082 . . . . . 0.4789916 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . 0.0013 0.0033 0.0042 0.0013 0.0033 0.0042 . II.78 . . . . . . . . 3.538e-03 . . . 0.0014 0.0043 0.0022 0 0.0056 0.0061 0.0041 0.0038 0.0013 0.0049 0.0022 0 0.0052 0.0070 0.0021 0.0039 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.59 0.61 182 ENSG00000137804 NUSAP1 NUSAP1 . . . . . . 266 0.00409382 64976 248 0.0041343 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201510924 . . . . . . . . . . . . . . . . . . . . . . . 0.003313 . . . . . 0.0008 0.0036 0.0015 0.0077 5.872e-05 0.0039 0.0048 0.0043 0.0032 0.0016 0.0039 0.0036 0.0132 0 0.0060 0.0051 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs201510924 rs201510924 1 1538 10 1/0 0,249,255 +rs201510924 15 41625167 C T - OIP5 20300 Opa interacting protein 5 NM_007280.1 -1 1236 690 NP_009211.1 O43482 substitution upstream GRCh37 41625167 41625167 Chr15(GRCh37):g.41625167C>T -408 -408 NM_007280.1:c.-408G>A p.? p.? 1 606020 -730 5' 74.5874 8.28108 0.936234 7.43039 74.5874 8.28108 0.936234 7.43039 0 rs201510924 yes no Frequency/1000G 2 C 0.000000 0 0.003594 0.000000 0.008200 0.000000 0.004000 0.008600 0.003624 0.001121 0.001508 0.007852 0.000054 0.003167 0.004844 0.004162 0.004088 0.007852 983 26 51 78 1 95 600 106 26 271282 23188 33826 9934 18648 29994 123864 25468 6360 0.000037 0.000000 0.000059 0.000000 0.000000 0.000000 0.000048 0.000079 0.000000 5 0 1 0 0 0 3 1 0 973 26 49 78 1 95 594 104 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8223 3809 12032 35 5 40 0.00423831 0.00131096 0.00331345 0.00423831 0.00131096 0.00331345 34 transition G A G>A 0.961 0.125 255 PASS . 0.0023 0.01 . 0.004 . 0.0036 0.0086 . 0.004 0.0082 . . . . . 0.4789916 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . 0.0013 0.0033 0.0042 0.0013 0.0033 0.0042 . II.78 . . . . . . . . 3.538e-03 . . . 0.0014 0.0043 0.0022 0 0.0056 0.0061 0.0041 0.0038 0.0013 0.0049 0.0022 0 0.0052 0.0070 0.0021 0.0039 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.59 0.61 182 ENSG00000137804 NUSAP1 NUSAP1 . . . . . . 266 0.00409382 64976 248 0.0041343 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201510924 . . . . . . . . . . . . . . . . . . . . . . . 0.003313 . . . . . 0.0008 0.0036 0.0015 0.0077 5.872e-05 0.0039 0.0048 0.0043 0.0032 0.0016 0.0039 0.0036 0.0132 0 0.0060 0.0051 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs201510924 rs201510924 1 1538 10 1/0 0,249,255 +rs139383475 15 41680739 T A - NDUFAF1 18828 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 NM_016013.3 -1 1477 984 NP_057097.2 Q9Y375 substitution intron GRCh37 41680739 41680739 Chr15(GRCh37):g.41680739T>A 760-19 760-19 NM_016013.3:c.760-19A>T p.? p.? 4 3 606934 -19 3' 93.3381 9.87625 0.9693 2.62474 93.3381 X.77 0.976911 3.70557 0.0357424 rs139383475 yes no Frequency/1000G 2 T benign 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.001147 0.000501 0.000582 0.007805 0.000000 0.000033 0.001545 0.000233 0.000620 0.007805 317 12 20 79 0 1 195 6 4 276482 23956 34392 10122 18844 30716 126244 25760 6448 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 315 12 18 79 0 1 195 6 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4402 12982 20 4 24 0.00232558 0.000907853 0.0018453 0.00232558 0.000907853 0.0018453 44 RCV000127117.1 germline clinical testing Benign 1 not specified transversion A T A>T 0.008 0.528 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0006 0.0014 . 0.002 . . . . . . 0.6969697 . . germline 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000127117.1 not_specified MedGen CN169374 2 . . . 33.0 . . . 0.0009 0.0018 0.0023 0.0009 0.0018 0.0023 . 0.8697 . . . . . . . . 9.945e-04 . . . 0.0007 0.0010 0.0004 0 0 0.0019 0 0 0.0007 0.0009 0.0004 0 0.0002 0.0016 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.61 0.47 182 ENSG00000137806 NDUFAF1 NDUFAF1 . . . . . . 79 0.00121583 64976 76 0.00126696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139383475 . . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000127117.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000127117.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . 0.001845 . . . . IV.33 0.0005 0.0012 0.0006 0.0076 0 0.0002 0.0016 0.0007 3.256e-05 0.0006 0.0009 0.0012 0.0132 0 0.0006 0.0011 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs139383475 rs139383475 1 1538 10 1/0 0,255,255 +rs186056056 15 41688648 G C - NDUFAF1 18828 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 NM_016013.3 -1 1477 984 NP_057097.2 Q9Y375 substitution intron GRCh37 41688648 41688648 Chr15(GRCh37):g.41688648G>C 573+37 573+37 NM_016013.3:c.573+37C>G p.? p.? 2 2 606934 37 5' 80.6519 8.09891 0.940532 7.15655 80.6519 8.09891 0.940532 7.20155 0 rs186056056 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.009200 0.000000 0.003000 0.002900 0.002942 0.000751 0.000757 0.007799 0.000266 0.004037 0.003461 0.004211 0.002479 0.007799 813 18 26 79 5 124 437 108 16 276362 23968 34358 10130 18832 30714 126260 25646 6454 0.000036 0.000000 0.000058 0.000000 0.000000 0.000000 0.000048 0.000078 0.000000 5 0 1 0 0 0 3 1 0 803 18 24 79 5 124 431 106 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4401 12976 25 5 30 0.00290698 0.00113482 0.00230663 0.00290698 0.00113482 0.00230663 37 transversion C G C>G 0.000 0.125 255 PASS . 0.0018 0.0028 . 0.004 . 0.0028 0.0029 . 0.003 0.0092 . . . . . 0.5802469 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . 0.0011 0.0023 0.0029 0.0011 0.0023 0.0029 . -0.0314 . . . . . . . . 2.921e-03 . . . 0.0010 0.0026 0.0008 0.0002 0.0039 0.0030 0.0014 0.0043 0.0009 0.0030 0.0007 0.0003 0.0041 0.0037 0 0.0043 . . . . . . intronic intronic intronic . . . 0.0028 . . . 0.64 0.13 182 ENSG00000137806 NDUFAF1 NDUFAF1 . . . . . . 190 0.00292416 64976 176 0.00293402 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186056056 . . . . . . . . . . . . . . . . . . . . . . . 0.002307 . . . . . 0.0007 0.0029 0.0007 0.0076 0.0003 0.0039 0.0034 0.0026 0.0040 0.0008 0.0030 0.0012 0.0132 0 0.0060 0.0039 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs186056056 rs186056056 1 1538 10 1/0 0,255,255 +. 15 41763474 T A - RTF1 28996 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) NM_015138.4 1 5021 2133 NP_055953.3 substitution missense exon GRCh37 41763474 41763474 Chr15(GRCh37):g.41763474T>A 1130 1130 NM_015138.4:c.1130T>A p.Phe377Tyr p.Phe377Tyr 8 611633 -74 5' 71.083 3.35219 0.200672 0 71.083 3.35219 0.200672 0 0 Plus-3 Plus-3 domain, subgroup transversion T A T>A 1.000 5.209 F Phe TTC 0.546 Y Tyr TAC 0.562 377 13 10 C. elegans 3 3 4 0 0.2 5.II 6.II 132 136 22 C0 253.20 4.V Tolerated 0.43 III.15 good 2.064E-1 0.4817 255 PASS . . . . . . . . . . . ENSG00000137815:ENST00000389629:exon8:c.T1130A:p.F377Y RTF1:uc001zny.3:exon8:c.T1130A:p.F377Y RTF1:NM_015138:exon8:c.T1130A:p.F377Y . . 0.5555556 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.914 . @ . . . . . 1 0.771 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tAc|F377Y|RTF1|mRNA|CODING|NM_015138|NM_015138.ex.8) . . . . . . . 0.5430 0.598 0.543 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.975 @ . . . . . . ENSG00000137815 RTF1 RTF1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.289 0.011 . . 37 . 0.738 . . 0.682 . . . 0.507 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.529 . . 0 0 0 0 0 0 . 0.416 . . 0.655 . . . . . . 0 0.632 . . . . . 0.842 . 0.685 . HET 0 . . . . . . . . . . . . . 16.5446 . ENST00000389629 6.II 6.II . 0.920000 Q92541 . . . . . 0.897 . . 6.II . . . . . . . . . . . . . . . . . . . 0.730 . 2.311 2.311000 . . 0.920000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.886 . 0.807 2.311 0.991 . . . . . 1 1538 10 1/0 0,255,255 +. 15 41771141 CT C - RTF1 28996 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) NM_015138.4 1 5021 2133 NP_055953.3 deletion intron GRCh37 41771159 41771159 Chr15(GRCh37):g.41771159del 1819-142 1819-142 NM_015138.4:c.1819-142del p.? p.? 16 15 611633 -142 3' 87.8716 8.23937 0.837539 6.64481 87.8716 8.23937 0.837539 6.64481 0 rs529564086 yes no Frequency/1000G 2 T 0.000000 0 0.284744 0.262500 0.239300 0.333300 0.305200 0.291100 0.005970 0.004105 0.036313 0.004854 0.000735 0.000000 0.004672 0.053030 0.011905 0.053030 116 26 13 1 1 0 48 21 6 19432 6334 358 206 1360 0 10274 396 504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 28 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 51 Genomes T 255 Pass . . . . . 0.26 0.28 0.29 0.33 0.31 0.24 . . . . . 0.4 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 30 . . INTRON(MODIFIER||||RTF1|mRNA|CODING|NM_015138|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000137815 RTF1 RTF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs529564086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0041 0.0060 0.0363 0.0049 0.0007 0.0530 0.0047 0.0119 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +rs61757104 15 41795054 C T - ITPKA 6178 Inositol-trisphosphate 3-kinase A NM_002220.2 1 1849 1386 NP_002211.1 P23677 substitution synonymous exon GRCh37 41795054 41795054 Chr15(GRCh37):g.41795054C>T 1179 1179 NM_002220.2:c.1179C>T p.His393= p.His393His 6 147521 -4 5' 91.1667 9.84565 0.998377 XII.94 91.1667 9.84565 0.998183 XII.13 -6.47718e-05 Inositol polyphosphate kinase rs61757104 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.019400 0.000000 0.003000 0.002900 0.004107 0.000774 0.000731 0.007499 0.000053 0.013889 0.003609 0.004256 0.003157 0.013889 1114 18 25 75 1 424 445 106 20 271276 23250 34218 10002 18736 30528 123298 24908 6336 0.000081 0.000000 0.000058 0.000000 0.000000 0.000459 0.000032 0.000080 0.000000 11 0 1 0 0 7 2 1 0 1092 18 23 75 1 410 441 104 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8559 4395 12954 25 5 30 0.0029124 0.00113636 0.00231054 0.0029124 0.00113636 0.00231054 18 COSM1317799 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.913 -0.360 H His CAC 0.587 H His CAT 0.413 393 253 PASS . 0.0018 0.0028 . 0.004 . 0.0048 0.0029 . 0.003 0.019 ENSG00000137825:ENST00000260386:exon6:c.C1179T:p.H393H ITPKA:uc001znz.3:exon6:c.C1179T:p.H393H ITPKA:NM_002220:exon6:c.C1179T:p.H393H . . 0.31707317 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . 0.0011 0.0023 0.0029 0.0011 0.0023 0.0029 . I.78 . . . . . . . . 4.149e-03 . . . 0.0013 0.0052 0.0009 0 0.0057 0.0037 0.0035 0.0155 0.0013 0.0054 0.0009 0 0.0054 0.0044 0.0038 0.0154 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0048 . . . 0.49 0.47 182 ENSG00000137825 ITPKA ITPKA . . . . . . 197 0.00303189 64976 173 0.00288401 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs61757104 . . . . . . ID\x3dCOSM1317799\x3bOCCURENCE\x3d1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . 0.002311 . . . . . 0.0008 0.0042 0.0007 0.0073 5.843e-05 0.0040 0.0035 0.0032 0.0139 0.0008 0.0032 0.0012 0.0132 0 0.0060 0.0041 0.0031 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.004 rs61757104 rs61757104 rs61757104 rs61757104 1 1538 10 1/0 0,254,255 +rs61757104 15 41795054 C T - LTK 6721 Leukocyte receptor tyrosine kinase NM_002344.5 -1 3127 2595 NP_002335.2 P29376 substitution downstream GRCh37 41795054 41795054 Chr15(GRCh37):g.41795054C>T *1140 *1140 NM_002344.5:c.*1140G>A p.? p.? 20 151520 1389 3' 91.863 9.99952 0.96643 X.39 91.863 9.99952 0.96643 X.39 0 rs61757104 yes no Frequency/1000G 2 C 0.000000 0 0.004792 0.000000 0.019400 0.000000 0.003000 0.002900 0.004107 0.000774 0.000731 0.007499 0.000053 0.013889 0.003609 0.004256 0.003157 0.013889 1114 18 25 75 1 424 445 106 20 271276 23250 34218 10002 18736 30528 123298 24908 6336 0.000081 0.000000 0.000058 0.000000 0.000000 0.000459 0.000032 0.000080 0.000000 11 0 1 0 0 7 2 1 0 1092 18 23 75 1 410 441 104 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8559 4395 12954 25 5 30 0.0029124 0.00113636 0.00231054 0.0029124 0.00113636 0.00231054 18 COSM1317799 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.913 -0.360 253 PASS . 0.0018 0.0028 . 0.004 . 0.0048 0.0029 . 0.003 0.019 ENSG00000137825:ENST00000260386:exon6:c.C1179T:p.H393H ITPKA:uc001znz.3:exon6:c.C1179T:p.H393H ITPKA:NM_002220:exon6:c.C1179T:p.H393H . . 0.31707317 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . . 0.0011 0.0023 0.0029 0.0011 0.0023 0.0029 . I.78 . . . . . . . . 4.149e-03 . . . 0.0013 0.0052 0.0009 0 0.0057 0.0037 0.0035 0.0155 0.0013 0.0054 0.0009 0 0.0054 0.0044 0.0038 0.0154 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0048 . . . 0.49 0.47 182 ENSG00000137825 ITPKA ITPKA . . . . . . 197 0.00303189 64976 173 0.00288401 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs61757104 . . . . . . ID\x3dCOSM1317799\x3bOCCURENCE\x3d1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . 0.002311 . . . . . 0.0008 0.0042 0.0007 0.0073 5.843e-05 0.0040 0.0035 0.0032 0.0139 0.0008 0.0032 0.0012 0.0132 0 0.0060 0.0041 0.0031 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . 0.004 rs61757104 rs61757104 rs61757104 rs61757104 1 1538 10 1/0 0,254,255 +. 15 41796685 CG C - ITPKA 6178 Inositol-trisphosphate 3-kinase A NM_002220.2 1 1849 1386 NP_002211.1 P23677 deletion downstream GRCh37 41796688 41796688 Chr15(GRCh37):g.41796688del *1324 *1324 NM_002220.2:c.*1324del p.? p.? 7 147521 1528 3' 73.2621 5.13563 0.045015 0 73.2621 5.13563 0.045015 0 0 Cryptic Acceptor Strongly Activated 41796692 6.29415 0.12584 76.9885 6.68884 0.40789 79.6917 rs369649743 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.020400 0.000000 0.003000 0.002900 0.004446 0.000833 0.001048 0.008073 0.000000 0.015989 0.003723 0.004250 0.003260 0.015989 1226 20 36 81 0 491 468 109 21 275746 23996 34364 10034 18846 30708 125708 25648 6442 0.000080 0.000083 0.000058 0.000000 0.000000 0.000326 0.000048 0.000078 0.000000 11 1 1 0 0 5 3 1 0 1204 18 34 81 0 481 462 107 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8204 4254 12458 50 10 60 0.00605767 0.00234522 0.0047931 0.00605767 0.00234522 0.0047931 61 G 255 Pass . . . . . . 0.005 0.0029 . 0.003 0.02 . . . . . 0.5964912 . . . 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 114 . . . 0.0023 0.0048 0.0061 0.0023 0.0048 0.0061 . . . . . . . . . . . . . . 0.0011 0.0049 0.0009 0 0.0039 0.0034 0.0028 0.0159 0.0010 0.0049 0.0008 0 0.0041 0.0040 0.0029 0.0159 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000062524 LTK LTK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs369649743 . . . . . . . . . . . . . . . . . . . . . . . 0.004792 . . . . . 0.0008 0.0046 0.0010 0.0080 0 0.0040 0.0037 0.0033 0.0160 0.0009 0.0032 0.0012 0.01 0 0.0060 0.0042 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0061 . . rs369649743 rs369649743 1 1538 10 1.I 0,12,22 +. 15 41796685 CG C - LTK 6721 Leukocyte receptor tyrosine kinase NM_002344.5 -1 3127 2595 NP_002335.2 P29376 deletion intron GRCh37 41796686 41796686 Chr15(GRCh37):g.41796686del 2255+18 2255+18 NM_002344.5:c.2255+18del p.? p.? 18 18 151520 18 5' 69.9338 5.83957 0.327873 2.81277 69.9338 5.83957 0.327873 1.98309 0 rs369649743 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.020400 0.000000 0.003000 0.002900 0.004446 0.000833 0.001048 0.008073 0.000000 0.015989 0.003723 0.004250 0.003260 0.015989 1226 20 36 81 0 491 468 109 21 275746 23996 34364 10034 18846 30708 125708 25648 6442 0.000080 0.000083 0.000058 0.000000 0.000000 0.000326 0.000048 0.000078 0.000000 11 1 1 0 0 5 3 1 0 1204 18 34 81 0 481 462 107 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8204 4254 12458 50 10 60 0.00605767 0.00234522 0.0047931 0.00605767 0.00234522 0.0047931 61 C 255 Pass . . . . . . 0.005 0.0029 . 0.003 0.02 . . . . . 0.5964912 . . . 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 114 . . . 0.0023 0.0048 0.0061 0.0023 0.0048 0.0061 . . . . . . . . . . . . . . 0.0011 0.0049 0.0009 0 0.0039 0.0034 0.0028 0.0159 0.0010 0.0049 0.0008 0 0.0041 0.0040 0.0029 0.0159 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000062524 LTK LTK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs369649743 . . . . . . . . . . . . . . . . . . . . . . . 0.004792 . . . . . 0.0008 0.0046 0.0010 0.0080 0 0.0040 0.0037 0.0033 0.0160 0.0009 0.0032 0.0012 0.01 0 0.0060 0.0042 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0061 . . rs369649743 rs369649743 1 1538 10 1.I 0,12,22 +rs140601396 15 41812416 G A - RPAP1 24567 RNA polymerase II associated protein 1 NM_015540.3 -1 4683 4182 NP_056355.2 Q9BWH6 substitution intron GRCh37 41812416 41812416 Chr15(GRCh37):g.41812416G>A 3795+173 3795+173 NM_015540.3:c.3795+173C>T p.? p.? 22 22 611475 173 5' 76.822 8.17044 0.897275 8.62598 76.822 8.17044 0.897275 8.62598 0 rs140601396 yes no Frequency/1000G 2 G 0.000000 0 0.004393 0.000000 0.009200 0.006900 0.002000 0.005800 0.004504 0.000720 0.003013 0.022388 0.007808 0.005983 0.003821 0.006726 0.005793 0.022388 415 10 39 51 74 46 146 33 16 92150 13888 12944 2278 9478 7688 38206 4906 2762 0.000022 0.000000 0.000155 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 413 10 37 51 74 46 146 33 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.031 0.690 255 PASS . 0.0032 0.01 0.01 0.0026 . 0.0044 0.0058 0.0069 0.002 0.0092 . . . . . 0.37142858 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||RPAP1|mRNA|CODING|NM_015540|) . . . . . . . -0.2497 . . . . . . . . 1.247e-03 . . . 0 0.0280 0.0556 0 0 0.0505 0.1667 0 0 0.0369 0.0556 0 0 0.1 0.25 0 . . . . . . UTR3 intronic intronic . . . 0.0044 . . . 0.42 0.4 182 ENSG00000103932 RPAP1 RPAP1 ENST00000562303:c.*20C>T . . . . . 183 0.00281642 64976 161 0.00268396 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140601396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0048 0.0027 0.0223 0.0085 0.0078 0.0034 0.0073 0.0060 0.0009 0.0038 0.0072 0.0232 0.0043 0.0063 0.0044 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs140601396 rs140601396 1 1538 10 1/0 0,255,255 +rs190512390 15 41815388 A G - RPAP1 24567 RNA polymerase II associated protein 1 NM_015540.3 -1 4683 4182 NP_056355.2 Q9BWH6 substitution intron GRCh37 41815388 41815388 Chr15(GRCh37):g.41815388A>G 2546+55 2546+55 NM_015540.3:c.2546+55T>C p.? p.? 18 18 611475 55 5' 85.6983 7.76066 0.997078 8.68269 85.6983 7.76066 0.997078 8.72289 0 rs190512390 yes no Frequency/1000G 2 A 0.000000 0 0.003994 0.000000 0.009200 0.005000 0.002000 0.005800 0.003787 0.000919 0.005967 0.023179 0.003699 0.000000 0.004413 0.006315 0.003055 0.023179 117 8 5 7 6 0 66 22 3 30892 8708 838 302 1622 0 14956 3484 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 8 5 7 6 0 66 22 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.024 -0.279 255 PASS . 0.0027 0.01 0.0035 0.0026 . 0.004 0.0058 0.005 0.002 0.0092 . . . . . 0.5740741 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||RPAP1|mRNA|CODING|NM_015540|) . . . . . . . 0.2504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.36 0.13 182 ENSG00000103932 RPAP1 RPAP1 . . . . . . 178 0.00273947 64976 158 0.00263395 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190512390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0038 0.0060 0.0232 0.0037 0.0063 0.0044 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs190512390 rs190512390 1 1538 10 1/0 0,255,255 +rs151048339 15 41827875 C T - RPAP1 24567 RNA polymerase II associated protein 1 NM_015540.3 -1 4683 4182 NP_056355.2 Q9BWH6 substitution intron GRCh37 41827875 41827875 Chr15(GRCh37):g.41827875C>T 421-45 421-45 NM_015540.3:c.421-45G>A p.? p.? 5 4 611475 -45 3' 92.7374 XI.25 0.98396 X.09 92.7374 XI.25 0.98396 IX.44 0 Cryptic Donor Strongly Activated 41827878 0.008525 67.7854 III.07 0.085103 72.1478 rs151048339 yes no Frequency/1000G 2 C 0.000000 0 0.004393 0.000000 0.009200 0.006900 0.002000 0.005800 0.004111 0.000803 0.002012 0.016441 0.007338 0.004588 0.003797 0.003923 0.005224 0.016441 1057 19 60 141 132 121 455 98 31 257134 23648 29814 8576 17988 26374 119822 24978 5934 0.000047 0.000000 0.000067 0.000233 0.000000 0.000000 0.000067 0.000000 0.000000 6 0 1 1 0 0 4 0 0 1045 19 58 139 132 121 447 98 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4400 12973 27 6 33 0.00313953 0.00136178 0.00253729 0.00313953 0.00136178 0.00253729 50 transition G A G>A 0.000 -1.812 255 PASS . 0.0032 0.01 0.01 0.0026 . 0.0044 0.0058 0.0069 0.002 0.0092 . . . . . 0.3968254 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||RPAP1|mRNA|CODING|NM_015540|) 0.0014 0.0025 0.0031 0.0014 0.0025 0.0031 . 0.1843 . . . . . . . . 3.845e-03 . . . 0.0009 0.0035 0.0015 0.0055 0.0037 0.0040 0.0043 0.0046 0.0008 0.0038 0.0013 0.0064 0.0039 0.0043 0.0015 0.0046 . . . . . . intronic intronic intronic . . . 0.0044 . . . 0.4 0.22 182 ENSG00000103932 RPAP1 RPAP1 . . . . . . 182 0.00280103 64976 160 0.00266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151048339 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv904112 0.002537 . . . . . 0.0007 0.0042 0.0019 0.0162 0.0076 0.0035 0.0037 0.0057 0.0046 0.0009 0.0038 0.0060 0.0232 0.0043 0.0063 0.0044 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151048339 rs151048339 1 1538 10 1/0 0,255,255 +rs142505884 15 41829267 A C - RPAP1 24567 RNA polymerase II associated protein 1 NM_015540.3 -1 4683 4182 NP_056355.2 Q9BWH6 substitution missense exon GRCh37 41829267 41829267 Chr15(GRCh37):g.41829267A>C 57 57 NM_015540.3:c.57T>G p.Ser19Arg p.Ser19Arg 2 611475 -125 5' 74.2807 8.34018 0.618599 IV.76 74.2807 8.34018 0.618599 IV.76 0 rs142505884 yes no Frequency/1000G 2 A 0.000000 0 0.004393 0.000000 0.009200 0.006900 0.002000 0.005800 0.004086 0.000791 0.001917 0.015964 0.007209 0.004386 0.003801 0.003917 0.004949 0.015964 1132 19 66 162 136 135 481 101 32 277012 24010 34420 10148 18864 30778 126538 25788 6466 0.000036 0.000000 0.000058 0.000197 0.000000 0.000000 0.000047 0.000000 0.000000 5 0 1 1 0 0 3 0 0 1122 19 64 160 136 135 475 101 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4400 12973 27 6 33 0.00313953 0.00136178 0.00253729 0.00313953 0.00136178 0.00253729 79 transversion T G T>G 0.992 0.125 S Ser AGT 0.149 R Arg AGG 0.207 19 12 5 Dog -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Tolerated 0.57 II.98 255 PASS . 0.0032 0.01 0.01 0.0026 . 0.0044 0.0058 0.0069 0.002 0.0092 . RPAP1:uc001zod.3:exon2:c.T57G:p.S19R RPAP1:NM_015540:exon2:c.T57G:p.S19R . . 0.44444445 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.239 . @ . . . . . 1 0.462 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S19R|RPAP1|mRNA|CODING|NM_015540|NM_015540.ex.2) 0.0014 0.0025 0.0031 0.0014 0.0025 0.0031 . -0.5895 -0.412 -0.589 c . . . . . 3.859e-03 . . . 0.0010 0.0035 0.0015 0.0055 0.0037 0.0041 0.0042 0.0042 0.0009 0.0038 0.0013 0.0064 0.0039 0.0044 0.0014 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.835 . . exonic exonic exonic . . 0.188 0.0044 . . . 0.25 0.26 182 ENSG00000103932 RPAP1 RPAP1 . . . 0.999 0.396 . 183 0.00281642 64976 161 0.00268396 59986 Likely_benign . 0 . 0.299 . . . . D 0.541 0.032 . . 37 . 0.492 . . 0.521 . . . 0.597 0.293 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.350 . . 0 0 0 0 0 0 . 0.112 . . 0.063 . . . . . . 0 0.198 . . . . . 0.196 . 0.524 . HET 0.14 rs142505884 . . . . . . . 0.003205128205128205 0.0 0.0055248618784530384 0.005244755244755245 0.002638522427440633 6.1875 0.001338 ENST00000304330 IV.95 0.983 . 0.000000 Q9BWH6 . . Name\x3dnsv904112 0.002537 . 0.382 . . . 0.0007 0.0041 0.0018 0.0157 0.0075 0.0035 0.0037 0.0053 0.0044 0.0009 0.0038 0.0060 0.0232 0.0043 0.0063 0.0044 0.0031 . . 0.609 . 0.056 0.056000 . . 0.000000 . . 1.0E-255 0.993 0.376 . 0.604 0.957 . 0.198 . 0.256 0.056 -0.168 0.01 . . rs142505884 rs142505884 1 1538 10 1/0 0,255,255 +rs61757238 15 42059352 T C - MGA 14010 MAX gene associated NM_001164273.1 1 12042 9198 NP_001157745.1 substitution synonymous exon GRCh37 42059352 42059352 Chr15(GRCh37):g.42059352T>C 9072 9072 NM_001164273.1:c.9072T>C p.Val3024= p.Val3024Val 24 616061 1151 3' 95.6592 X.52 0.968288 9.49307 95.6592 X.52 0.968288 9.49307 0 rs61757238 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001808 0.000792 0.002615 0.007685 0.000000 0.000032 0.002346 0.000116 0.002014 0.007685 501 19 90 78 0 1 297 3 13 277090 24004 34420 10150 18870 30780 126620 25790 6456 0.000014 0.000000 0.000116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 497 19 86 78 0 1 297 3 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8271 3891 12162 27 5 32 0.0032538 0.00128337 0.00262424 0.0032538 0.00128337 0.00262424 119 transition T C T>C 1.000 3.353 V Val GTT 0.178 V Val GTC 0.240 3024 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.42 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0013 0.0026 0.0033 0.0013 0.0026 0.0033 . I.95 . . . . . . . . 1.623e-03 . . . 0.0011 0.0019 0.0029 0 0 0.0029 0 0 0.0012 0.0015 0.0028 0 0 0.0022 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.64 0.34 182 ENSG00000174197 MGA MGA . . . . . . 122 0.00187762 64976 121 0.00201714 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61757238 . . . . . . . . . . . . . . . . . . . . . . . 0.002624 . . . . V.44 0.0008 0.0019 0.0026 0.0075 0 0.0001 0.0024 0.0024 3.249e-05 0.0008 0.0012 0.0024 0.0132 0 0 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0033 rs61757238 rs61757238 rs61757238 rs61757238 1 1538 10 1/0 0,255,255 +rs143368521 15 42116733 G A - MAPKBP1 29536 Mitogen-activated protein kinase binding protein 1 NM_001128608.1 1 7250 4545 NP_001122080.1 O60336 substitution missense exon GRCh37 42116733 42116733 Chr15(GRCh37):g.42116733G>A 4283 4283 NM_001128608.1:c.4283G>A p.Gly1428Asp p.Gly1428Asp 31 616786 -35 5' 72.5147 VI.94 0.593453 X.49 72.5147 VI.94 0.593453 10.893 0 rs143368521 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001797 0.000632 0.002486 0.007587 0.000000 0.000035 0.002363 0.000092 0.001821 0.007587 460 14 82 74 0 1 276 2 11 256000 22168 32988 9754 18022 28424 116822 21782 6040 0.000016 0.000000 0.000121 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 456 14 78 74 0 1 276 2 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4394 12964 28 4 32 0.00325657 0.000909504 0.0024623 0.00325657 0.000909504 0.0024623 34 transition G A G>A 0.945 0.367 G Gly GGC 0.342 D Asp GAC 0.539 1428 12 4 Dog -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 272.33 0.00 Tolerated 0.64 II.88 good 9.727E-1 0.1518 255 PASS . 0.0009 . . 0.0026 . 0.0002 . . 0.001 . . . . . . 0.44247788 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.026 . @ . . . . . 1 0.100 . . 113.0 . . . 0.0009 0.0025 0.0033 0.0009 0.0025 0.0033 . -0.9844 -0.914 -0.984 c . . . . . 1.451e-03 . . . 0.0011 0.0030 0.0056 0 0 0.0051 0 0 0.0011 0.0026 0.0057 0 0 0.0042 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.342 . . exonic exonic exonic . . 0.183 0.0002 . . . 0.58 0.51 182 ENSG00000137802 MAPKBP1 MAPKBP1 . . . 0.044 0.146 . 110 0.00169293 64976 109 0.00181709 59986 Likely_benign . 0 . 0.272 . . . . T 0.091 0.004 . . 37 . 0.171 . . 0.217 . . . 0.292 0.243 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.166 . . 0 0 0 0 0 0 . 0.135 . . 0.104 . . . . . . 0 0.045 . . . . . 0.104 . 0.251 . HET 0 rs143368521 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IV.67 8.05E-4 . 5.V 0.893 . 0.780000 . . . . 0.002462 . 0.358 . . . 0.0005 0.0019 0.0025 0.0074 0 0.0001 0.0025 0.0022 3.518e-05 0.0008 0.0012 0.0024 0.0132 0 0 0.0016 0 . . 0.974 . 0.508 0.508000 . . 0.780000 . . 1.0E-255 1.000 0.715 . 0.043 0.032 . 0.379 . 0.202 0.508 0.917 0.0033 . . rs143368521 rs143368521 1 1538 10 1/0 0,250,255 +rs371238537 15 42158442 G T - MIR4310 38383 MicroRNA 4310 NR_036195.1 -1 57 0 substitution downstream GRCh37 42158442 42158442 Chr15(GRCh37):g.42158442G>T *251 *251 NR_036195.1:n.*251C>A p.? p.? 1 rs371238537 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000280 0.000087 0.000068 0.000116 0.000000 0.000000 0.000524 0.000129 0.000171 0.000524 71 2 2 1 0 0 62 3 1 253942 23022 29420 8590 17812 27702 118336 23222 5838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 2 2 1 0 0 62 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8382 4123 12505 2 1 3 0.00023855 0.000242483 0.000239846 0.00023855 0.000242483 0.000239846 25 transversion C A C>A 0.000 0.286 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.41379312 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . 0.5400 . . . . . . . . 2.878e-04 . . . 0 0.0003 0 0 0 0.0006 0 0 0 0.0004 0 0 0 0.0007 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.45 0.32 182 ENSG00000137877 SPTBN5 SPTBN5 . . . . . . 23 0.000353977 64976 22 0.000366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs371238537 . . . . . . . . . . . . . . . . . . . . . . . 0.000240 . . . . . 0.0001 0.0003 3.499e-05 0.0001 0 0.0002 0.0005 0.0002 0 0 0.0002 0.0012 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs371238537 rs371238537 1 1538 10 1/0 0,255,255 +rs371238537 15 42158442 G T - SPTBN5 15680 Spectrin, beta, non-erythrocytic 5 NM_016642.3 -1 11723 11025 NP_057726.4 Q9NRC6 substitution intron GRCh37 42158442 42158442 Chr15(GRCh37):g.42158442G>T 6631-15 6631-15 NM_016642.3:c.6631-15C>A p.? p.? 38 37 605916 -15 3' 86.1379 13.2911 0.97211 XI.55 86.1379 12.1749 0.950448 10.369 -0.0354224 rs371238537 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000280 0.000087 0.000068 0.000116 0.000000 0.000000 0.000524 0.000129 0.000171 0.000524 71 2 2 1 0 0 62 3 1 253942 23022 29420 8590 17812 27702 118336 23222 5838 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 2 2 1 0 0 62 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8382 4123 12505 2 1 3 0.00023855 0.000242483 0.000239846 0.00023855 0.000242483 0.000239846 25 transversion C A C>A 0.000 0.286 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.41379312 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . 0.5400 . . . . . . . . 2.878e-04 . . . 0 0.0003 0 0 0 0.0006 0 0 0 0.0004 0 0 0 0.0007 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.45 0.32 182 ENSG00000137877 SPTBN5 SPTBN5 . . . . . . 23 0.000353977 64976 22 0.000366752 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs371238537 . . . . . . . . . . . . . . . . . . . . . . . 0.000240 . . . . . 0.0001 0.0003 3.499e-05 0.0001 0 0.0002 0.0005 0.0002 0 0 0.0002 0.0012 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs371238537 rs371238537 1 1538 10 1/0 0,255,255 +. 15 42523341 T TC - TMEM87A 24522 Transmembrane protein 87A NM_015497.4 -1 3110 1668 NP_056312.2 Q8NBN3 duplication intron GRCh37 42523341 42523342 Chr15(GRCh37):g.42523342dup 1131+48 1131+48 NM_015497.4:c.1131+48dup p.? p.? 12 12 48 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 42523339 0.591301 0.018002 78.0292 1.60689 0.070755 77.4482 rs56119841 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999975 0.999821 0.999919 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 244266 22300 24570 9112 15898 23786 117800 25242 5558 244272 22304 24572 9112 15898 23786 117800 25242 5558 0.999951 0.999641 0.999837 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 122130 11148 12284 4556 7949 11893 58900 12621 2779 6 4 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes G 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . . 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 42 . . . . . . . . . . . . . . . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000103978 TMEM87A TMEM87A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397725100 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv832985 . . . . . . 0.9998 1.0000 0.9999 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs56119841 rs56119841 1 1538 255 1.I 0,0,255 +rs200292967 15 42727713 G A - ZNF106 12886 Zinc finger protein 106 NM_022473.2 -1 10881 5652 NP_071918.1 Q9H2Y7 substitution missense exon GRCh37 42727713 42727713 Chr15(GRCh37):g.42727713G>A 4681 4681 NM_022473.2:c.4681C>T p.Arg1561Trp p.Arg1561Trp 11 4 3' 73.3697 5.59756 0.199638 0 73.3697 5.59756 0.186427 0 -0.0220583 WD40 repeat WD40-repeat-containing domain rs200292967 yes no Frequency 1 G 0.000000 0 0.000054 0.000000 0.000000 0.000788 0.000000 0.000000 0.000047 0.000039 0.000000 0.000788 15 0 0 8 0 0 6 1 0 277196 24032 34418 10150 18866 30782 126698 25784 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 8 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.984 0.851 R Arg CGG 0.207 W Trp TGG 1.000 1561 16 11 Frog -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Deleterious 0.01 3.II 253 PASS . . . . . . . . . . . . . . . . 0.32352942 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.928 . @ . . . . . 1 0.988 . . 34.0 . . . . . . . . . . 0.4982 0.387 0.498 c . . . . . 4.736e-05 . . . 0 4.409e-05 0 0 0 9.498e-05 0 0 0 5.651e-05 0 0 0.0002 9.204e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.601 . . exonic exonic exonic . . 0.340 @ . . . 0.57 0.19 182 ENSG00000103994 ZNF106 ZNF106 . . . 0.833 0.247 . . . . . . . Uncertain_significance . 0 . 0.434 . . . . D 0.762 0.094 . . 37 . 0.743 . . 0.786 . . . 0.631 0.495 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.774 . . 0 0 0 0 0 0 . 0.899 . . 0.850 . . . . . . 0 0.654 . . . . . 0.562 . 0.597 . HET 0 rs200292967 . . . . . . . . . . . . XII.96 . . V.13 3.IV . 0.010000 . . . . . . 0.802 . . 3.IV 0 5.686e-05 0 0.0008 0 4.485e-05 4.477e-05 0 0 0 3.23e-05 0 0 0 0 6.665e-05 0 . . 0.730 . 1.330 1.330000 . . 0.010000 . . 1.0E-253 0.996 0.391 . 0.750 0.972 . 0.424 . 0.713 1.330 -0.045 . . . rs200292967 rs200292967 1 1538 10 1/0 0,255,255 +rs139449869 15 43483228 A G - CCNDBP1 1587 Cyclin D-type binding-protein 1 NM_012142.4 1 3650 1083 NP_036274.3 O95273 substitution synonymous exon GRCh37 43483228 43483228 Chr15(GRCh37):g.43483228A>G 567 567 NM_012142.4:c.567A>G p.Glu189= p.Glu189Glu 7 607089 -13 5' 90.6189 10.0684 0.875341 5.32926 90.6189 10.0684 0.875341 5.29097 0 rs139449869 yes no Frequency 1 A 0.000000 0 0.000444 0.000125 0.000116 0.000788 0.000000 0.000195 0.000688 0.000504 0.000310 0.000788 123 3 4 8 0 6 87 13 2 276966 24002 34408 10148 18868 30770 126522 25788 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123 3 4 8 0 6 87 13 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4406 13000 4 0 4 0.000465224 0 0.000307598 0.000465224 0 0.000307598 109 transition A G A>G 1.000 1.093 E Glu GAA 0.417 E Glu GAG 0.583 189 255 PASS . . . . . . . . . . . . . CCNDBP1:NM_012142:exon7:c.A567G:p.E189E . . 0.60273975 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . I.00 . . . . . . . . 5.288e-04 . . . 9.764e-05 0.0005 0 0 0.0008 0.0010 0 0.0002 0.0001 0.0005 0 0 0.0008 0.0008 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.48 182 ENSG00000166946 CCNDBP1 CCNDBP1 . . . . . . 24 0.000369367 64976 24 0.000400093 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139449869 . . . . . . . . . . . . . . . . . . . . . . . 0.000308 . . . . 3.IX 0.0001 0.0005 0.0001 0.0008 0 0.0005 0.0007 0.0004 0.0002 0.0001 0.0004 0 0 0 0.0003 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs139449869 rs139449869 1 1538 10 1/0 0,255,255 +rs146833656 15 43569097 C T - TGM7 30790 Transglutaminase 7 NM_052955.2 -1 2312 2133 NP_443187.1 Q96PF1 substitution missense exon GRCh37 43569097 43569097 Chr15(GRCh37):g.43569097C>T 1936 1936 NM_052955.2:c.1936G>A p.Glu646Lys p.Glu646Lys 12 606776 -38 5' 75.8485 8.56881 0.986262 8.79313 75.8485 8.56881 0.986262 8.95248 0 Transglutaminase, C-terminal rs146833656 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000800 0.001000 0.000000 0.004000 0.008600 0.008092 0.002372 0.004620 0.013601 0.000053 0.005166 0.011218 0.009154 0.011142 0.013601 2242 57 159 138 1 159 1420 236 72 277064 24028 34412 10146 18870 30780 126586 25780 6462 0.000079 0.000000 0.000058 0.000197 0.000000 0.000000 0.000126 0.000000 0.000310 11 0 1 1 0 0 8 0 1 2220 57 157 136 1 159 1404 236 70 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8494 4389 12883 104 15 119 0.0120958 0.00340599 0.00915244 0.0120958 0.00340599 0.00915244 97 transition G A G>A 1.000 4.402 E Glu GAA 0.417 K Lys AAA 0.425 646 12 10 Fruitfly 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 225.19 34.45 Deleterious 0.02 3.XII good 2.193E-2 0.0002291 255 PASS 0.002 0.0032 0.01 . 0.004 0.0008 0.0024 0.0086 . 0.004 0.001 ENSG00000159495:ENST00000452443:exon12:c.G1936A:p.E646K TGM7:uc001zrf.1:exon12:c.G1936A:p.E646K TGM7:NM_052955:exon12:c.G1936A:p.E646K . . 0.45714286 . . @ 48 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.926 . @ . . . . . 1 0.987 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E646K|TGM7|mRNA|CODING|NM_052955|NM_052955.ex.12) 0.0034 0.0092 0.012 0.0034 0.0092 0.012 . 0.7271 0.655 0.727 c . . . . . 8.050e-03 . . . 0.0023 0.0077 0.0046 0.0002 0.0126 0.0115 0.0127 0.0050 0.0021 0.0076 0.0046 0 0.0114 0.0106 0.0087 0.0050 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.376 . . exonic exonic exonic . . 0.696 0.0024 . . . 0.4 0.48 182 ENSG00000159495 TGM7 TGM7 . . . 1.000 0.747 . 623 0.00958816 64976 611 0.0101857 59986 Uncertain_significance . 0 . 0.352 . . . . . . . . . 37 . 0.543 . . 0.672 . . . 0.917 0.441 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.692 . . 0 0 0 0 0 0 . 0.670 . . 0.630 . . . . . . 0 0.721 . . . . . 0.806 . 0.390 . HET 0 rs146833656 . . . . . . . 0.003205128205128205 0.0020325203252032522 0.008287292817679558 0.0 0.00395778364116095 16.0633 0.00321 ENST00000452443 V.13 V.13 . 0.010000 Q96PF1 . . . 0.009152 . 0.799 . . V.13 0.0022 0.0081 0.0047 0.0137 5.798e-05 0.0093 0.0111 0.0111 0.0052 0.0028 0.0082 0.0024 0.0099 0 0.0083 0.0124 0.0112 . . 0.083 . 2.375 2.375000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.360 0.984 . 0.542 . 0.329 2.375 0.871 0.012 . . rs146833656 rs146833656 1 1538 10 1/0 0,255,255 +rs187859523 15 43713967 C A - TP53BP1 11999 Tumor protein p53 binding protein 1 NM_001141980.1 -1 6216 5934 NP_001135452.1 substitution intron GRCh37 43713967 43713967 Chr15(GRCh37):g.43713967C>A 4100+86 4100+86 NM_001141980.1:c.4100+86G>T p.? p.? 19 19 605230 86 5' 64.6273 2.02512 0.181825 0.730031 64.6273 2.02512 0.181825 0.730031 0 rs187859523 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000800 0.000000 0.000000 0.003000 0.000000 0.004379 0.001329 0.001685 0.002541 0.000000 0.002065 0.006333 0.007474 0.005451 0.007474 1011 31 48 15 0 42 681 165 29 230888 23324 28492 5904 17896 20340 107534 22078 5320 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 2 0 0 0 0 0 2 0 0 1007 31 48 15 0 42 677 165 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.992 0.932 242 PASS 0.002 0.0018 . . 0.004 0.0008 0.0008 . . 0.003 . . . . . . 0.2857143 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . I.99 . . . . . . . . 4.522e-03 . . . 0.0018 0.0047 0.0023 0 0.0101 0.0068 0.0073 0.0024 0.0014 0.0048 0.0024 0 0.0094 0.0064 0.0057 0.0024 . . . . . . UTR3 intronic intronic . . . 0.0008 . . . 0.64 0.34 182 ENSG00000067369 TP53BP1 TP53BP1 ENST00000467474:c.*25G>T . . . . . 358 0.00550973 64976 354 0.00590138 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187859523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.18 0.0011 0.0043 0.0017 0.0027 0 0.0076 0.0063 0.0055 0.0021 0.0017 0.0046 0.0012 0 0 0.0066 0.0066 0.0051 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . 0.004 . . rs187859523 rs187859523 1 1538 10 1/0 0,255,255 +rs145659671 15 43818115 G A - MAP1A 6835 Microtubule-associated protein 1A NM_002373.5 1 10275 8412 NP_002364.5 substitution missense exon GRCh37 43818115 43818115 Chr15(GRCh37):g.43818115G>A 4444 4444 NM_002373.5:c.4444G>A p.Asp1482Asn p.Asp1482Asn 4 600178 -3592 5' 87.864 10.0774 0.99377 8.34209 87.864 10.0774 0.99377 8.34209 0 rs145659671 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000800 0.001000 0.000000 0.003000 0.008600 0.009289 0.002595 0.005209 0.014752 0.000053 0.005207 0.013415 0.009274 0.013027 0.014752 2567 62 179 149 1 160 1693 239 84 276352 23892 34362 10100 18850 30728 126200 25772 6448 0.000094 0.000000 0.000058 0.000198 0.000000 0.000000 0.000158 0.000000 0.000310 13 0 1 1 0 0 10 0 1 2541 62 177 147 1 160 1673 239 82 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8086 3740 11826 124 14 138 0.0151035 0.00372936 0.0115346 0.0151035 0.00372936 0.0115346 92 COSM328351|COSM328351 Prostate|Pancreas 0.000567|0.000569 1764|1758 transition G A G>A 0.008 0.770 D Asp GAC 0.539 N Asn AAC 0.536 1482 10 8 Little brown bat 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 213.16 22.75 Deleterious 0 IV.32 bad 1.747E-3 0.0001552 255 PASS 0.002 0.0032 0.01 . 0.004 0.0008 0.0022 0.0086 . 0.003 0.001 . MAP1A:uc001zrt.3:exon4:c.G4444A:p.D1482N MAP1A:NM_002373:exon4:c.G4444A:p.D1482N . . 0.44444445 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.424 . @ . . . . . 1 0.378 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1482N|MAP1A|mRNA|CODING|NM_002373|NM_002373.ex.4) 0.0037 0.011 0.015 0.0037 0.011 0.015 . 0.0999 -0.098 0.100 c . . . . . 9.398e-03 . . . 0.0029 0.0091 0.0052 0.0002 0.0124 0.0140 0.0158 0.0051 0.0026 0.0089 0.0052 0 0.0113 0.0127 0.0087 0.0051 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.235 . . exonic exonic exonic . . 0.446 0.0022 . . . 0.26 0.35 182 ENSG00000166963 MAP1A MAP1A . . . 1.000 0.747 . 584 0.00898793 64976 573 0.00955223 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.329 . . 0.127 . . . 0.790 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.305 . . 0 0 0 0 0 0 . 0.670 . . 0.797 . . . . . . 0 0.599 . . . . . 0.586 . 0.001 . HET 0.05 rs145659671 . . . . . . ID\x3dCOSM328351\x3bOCCURENCE\x3d1(pancreas) 0.003205128205128205 0.0020325203252032522 0.008287292817679558 0.0 0.00395778364116095 13.1289 0.003585 . III.94 III.94 . 0.050000 P78559 . . . 0.011535 . 0.178 . . III.94 0.0024 0.0093 0.0053 0.0148 5.804e-05 0.0095 0.0134 0.0128 0.0052 0.0029 0.0090 0.0024 0.0133 0 0.0080 0.0137 0.0143 . . 0.395 . 2.166 2.166000 . . 0.050000 . . 1.0E-255 0.036 0.206 . 0.204 0.399 . 0.322 . 0.713 2.166 0.917 0.015 . . rs145659671 rs145659671 1 1538 10 1/0 0,255,255 +rs1802997 15 43868596 C T - PPIP5K1 29023 Diphosphoinositol pentakisphosphate kinase 1 NM_001130858.2 -1 5718 4302 NP_001124330.1 Q6PFW1 substitution synonymous exon GRCh37 43868596 43868596 Chr15(GRCh37):g.43868596C>T 1929 1929 NM_001130858.2:c.1929G>A p.Ala643= p.Ala643Ala 18 610979 -28 5' 85.0987 7.19963 0.727244 4.51359 85.0987 7.19963 0.727244 4.23473 0 Histidine phosphatase superfamily, clade-2 rs1802997 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.102 -0.602 A Ala GCG 0.107 A Ala GCA 0.226 643 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . 0.8453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.32 182 ENSG00000168781 PPIP5K1 PPIP5K1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs148398780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs1802997 rs1802997 rs1802997 rs148398780 1 1538 255 1.I 0,0,255 +rs781166222 (chr15:43968161 C/T) 15 43968161 C T Not on a known gene +rs2258957 (chr15:43973324 T/C) 15 43973324 T C Not on a known gene +rs190227684 15 44890420 A G - SPG11 11226 Spastic paraplegia 11 (autosomal recessive) NM_025137.3 -1 7788 7332 NP_079413.3 Q96JI7 substitution intron GRCh37 44890420 44890420 Chr15(GRCh37):g.44890420A>G 4001+43 4001+43 NM_025137.3:c.4001+43T>C p.? p.? 23 23 610844 43 5' 76.896 6.36285 0.78069 0 76.896 6.36285 0.78069 0 0 rs190227684 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.003502 0.001085 0.001398 0.001680 0.000000 0.000488 0.005282 0.006849 0.003117 0.006849 965 26 48 17 0 15 664 175 20 275554 23972 34332 10118 18748 30712 125706 25550 6416 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 961 26 48 17 0 15 660 175 20 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8539 4386 12925 51 8 59 0.00593714 0.00182066 0.00454405 0.00593714 0.00182066 0.00454405 86 transition T C T>C 0.000 0.205 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0004 . . 0.001 . . . . . . 0.4516129 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . 0.0018 0.0045 0.0059 0.0018 0.0045 0.0059 . 0.2756 . . . . . . . . 3.402e-03 . . . 0.0016 0.0032 0.0008 0 0.0090 0.0052 0.0057 0.0006 0.0013 0.0032 0.0008 0 0.0081 0.0046 0.0044 0.0006 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.6 0.09 182 ENSG00000104133 SPG11 SPG11 . . . . . . 255 0.00392453 64976 253 0.00421765 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190227684 . . . . . . . . . . . . . . . . . . . . . . . 0.004544 . . . . . 0.0010 0.0035 0.0014 0.0017 0 0.0070 0.0053 0.0029 0.0005 0.0013 0.0037 0.0012 0 0 0.0057 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0059 . . rs190227684 rs190227684 1 1538 10 1/0 0,255,255 +rs80338868 15 44949354 C T - SPG11 11226 Spastic paraplegia 11 (autosomal recessive) NM_025137.3 -1 7788 7332 NP_079413.3 Q96JI7 substitution missense exon GRCh37 44949354 44949354 Chr15(GRCh37):g.44949354C>T 808 808 NM_025137.3:c.808G>A p.Val270Ile p.Val270Ile 4 610844 -62 5' 89.8263 9.80181 0.99619 2.42092 89.8263 9.80181 0.99619 2.09307 0 rs80338868 yes no Frequency/1000G 2 C benign,likely_benign 0.000000 0 0.003195 0.007600 0.000000 0.000000 0.005000 0.001400 0.006195 0.008616 0.004300 0.004925 0.000000 0.000715 0.008329 0.007135 0.007892 0.008616 1717 207 148 50 0 22 1055 184 51 277160 24024 34418 10152 18870 30782 126664 25788 6462 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 1707 207 148 50 0 22 1045 184 51 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8507 4353 12860 89 43 132 0.0103537 0.00978162 0.0101601 0.0103537 0.00978162 0.0101601 86 RCV000439715.1|RCV000034267.3 germline|not provided|germline clinical testing|curation|clinical testing Likely benign|Benign 1|1 not specified|Spastic paraplegia 11, autosomal recessive CM151894 Amyotrophic lateral sclerosis 25588603 DM? transition G A G>A 0.992 3.837 V Val GTT 0.178 I Ile ATT 0.356 270 13 10 Chicken 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 III.79 unknown 0.0 0.0 255 PASS 0.01 0.0037 . . 0.01 0.0076 0.0032 0.0014 . 0.005 . . . . . . 0.46938777 . . germline 46 . . 1.2.2016 0 1 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.534 . Benign Benign RCV000034267.2 . MedGen:OMIM:Orphanet C1858479:604360:ORPHA2822 1 0.821 . . 98.0 . . . 0.0098 0.01 0.01 0.0098 0.01 0.01 . 0.2430 0.177 0.243 c . . . . . 6.022e-03 . . . 0.0095 0.0064 0.0063 0 0.0097 0.0084 0.0099 0.0009 0.0088 0.0056 0.0063 0 0.0085 0.0069 0.0073 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.365 . . exonic exonic exonic . . 0.890 0.0032 . . . 0.61 0.34 182 ENSG00000104133 SPG11 SPG11 . . . 1.000 0.747 . 387 0.00595605 64976 371 0.00618478 59986 Likely_benign . 0 . 0.432 . . . . . . . . . 37 . 0.443 . . 0.570 . . . 0.758 0.350 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 1 0 . 0.609 . . 0.558 . . . . . . 0 0.457 . . . . . 0.879 . 0.208 . HET 0.07 rs80338868 . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dSpastic_paraplegia_11\x2c_autosomal_recessive\x3bCLNACC\x3dRCV000034267.2 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dSpastic_paraplegia_11\x2c_autosomal_recessive\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000034267.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM\x3bCLNDSDBID\x3dNBK1210:C1858479:604360 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dSpastic_paraplegia_11\x2c_autosomal_recessive\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000034267.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM\x3bCLNDSDBID\x3dNBK1210:C1858479:604360 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dSpastic_paraplegia_11\x2c_autosomal_recessive\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000034267.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM\x3bCLNDSDBID\x3dNBK1210:C1858479:604360 . 0.003663003663003663 0.008130081300813009 0.0 0.0 0.005277044854881266 17.6254 0.009363 . V.71 V.71 . 0.070000 . . . . 0.010160 . 0.271 . . V.71 0.0089 0.0060 0.0043 0.0049 0 0.0073 0.0083 0.0086 0.0007 0.0081 0.0074 0.0036 0.0066 0 0.0060 0.0086 0.0041 . . 0.986 . 2.703 2.703000 . . 0.070000 . . 1.0E-255 0.416 0.261 . 0.253 0.549 . 0.307 . 0.445 2.703 0.871 0.01 . . rs80338868 . 1 1538 10 1/0 0,255,255 +rs200998617 15 45403512 C A - DUOX2 13273 Dual oxidase 2 NM_014080.4 -1 6346 4647 NP_054799.4 Q9NRD8 substitution intron GRCh37 45403512 45403512 Chr15(GRCh37):g.45403512C>A 716-37 716-37 NM_014080.4:c.716-37G>T p.? p.? 7 6 606759 -37 3' 67.4266 4.90032 0.007223 0 67.4266 4.90032 0.007223 0 0 rs200998617 yes no Frequency/1000G 2 C 0.000000 0 0.000477 0.000231 0.000264 0.000000 0.000553 0.000000 0.000696 0.000432 0.001261 0.000696 38 3 3 0 5 0 22 2 3 79628 12992 11378 1506 9034 6106 31604 4628 2380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 3 3 0 5 0 22 2 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -0.198 222 PASS 0.11 0.05 0.04 0.03 0.02 . . . . . . . . . . . 0.21794872 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . 0.6967 . . . . . . . . 9.050e-05 . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.56 0.48 182 ENSG00000140279 DUOX2 DUOX2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200998617 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0003 0 0.0004 0.0008 0.0002 0.0007 0 0.0004 0.0009 0 0 0.0013 0.0003 0.0013 0.0022 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . 0.11 . . rs200998617 rs200998617 1 1538 10 1/0 0,218,255 +rs11855665 15 49517458 A G - GALK2 4119 Galactokinase 2 NM_002044.3 1 3330 1377 NP_002035.1 Q01415 substitution intron GRCh37 49517458 49517458 Chr15(GRCh37):g.49517458A>G 266+7948 266+7948 NM_002044.3:c.266+7948A>G p.? p.? 3 3 137028 7948 5' 69.2843 VIII.19 0.919565 1.57779 69.2843 VIII.19 0.919565 1.57779 0 rs11855665 yes no Frequency/1000G 2 A 0.000000 0 0.002995 0.001500 0.001000 0.000000 0.009900 0.002900 0.005796 0.002472 0.004293 0.001226 0.000000 0.000758 0.010975 0.003307 0.009185 0.010975 892 36 105 10 0 17 654 29 41 153898 14564 24456 8156 11462 22436 59592 8768 4464 0.000078 0.000000 0.000000 0.000000 0.000000 0.000000 0.000201 0.000000 0.000000 6 0 0 0 0 0 6 0 0 880 36 105 10 0 17 642 29 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.382 0.044 255 PASS 0.002 0.0023 . . 0.01 0.0015 0.003 0.0029 . 0.0099 0.001 . . . . . 0.5 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.0708 . . . . . . . . 2.433e-03 . . . 0.0052 0.0021 0 0 . 0.0046 0.0085 0.0011 0.0052 0.0021 0 0 . 0.0046 0.0085 0.0011 . . . . . . UTR3 intronic intronic . . . 0.0030 . . . 0.48 0.35 182 ENSG00000156958 GALK2 GALK2 . . . . . . 569 0.00875708 64976 554 0.00923549 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11855665 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0058 0.0041 0.0013 0 0.0042 0.0116 0.0109 0.0008 0.0026 0.0057 0.0108 0 0 0.0020 0.0090 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs11855665 rs11855665 rs11855665 rs11855665 1 1538 10 1/0 0,255,255 +rs139977930 15 52100604 C T - TMOD2 11872 Tropomodulin 2 (neuronal) NM_014548.3 1 9186 1056 NP_055363.1 Q9NZR1 substitution intron GRCh37 52100604 52100604 Chr15(GRCh37):g.52100604C>T 1022-13 1022-13 NM_014548.3:c.1022-13C>T p.? p.? 10 9 602928 -13 3' 80.0245 8.70314 0.889866 X.48 82.8976 VIII.13 0.93582 X.14 0.0245145 Cryptic Acceptor Weakly Activated 52100617 8.70314 0.889866 80.0245 VIII.13 0.93582 82.8976 rs139977930 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.003000 0.008600 0.003515 0.001129 0.003577 0.000893 0.000000 0.000034 0.005827 0.001750 0.004419 0.005827 961 27 119 9 0 1 732 45 28 273386 23906 33264 10074 18728 29740 125628 25710 6336 0.000015 0.000000 0.000060 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 2 0 1 0 0 0 1 0 0 957 27 117 9 0 1 730 45 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8537 4381 12918 49 9 58 0.00570696 0.00205011 0.00446979 0.00570696 0.00205011 0.00446979 141 transition C T C>T 0.000 0.044 255 PASS . 0.01 0.02 . 0.004 . 0.0018 0.0086 . 0.003 . . . . . . 0.48 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0021 0.0045 0.0057 0.0021 0.0045 0.0057 . 0.6184 . . . . . . . . 3.394e-03 . . . 0.0016 0.0030 0.0044 0 0.0018 0.0048 0.0014 0 0.0015 0.0034 0.0044 0 0.0017 0.0051 0.0029 0 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.44 0.4 182 ENSG00000128872 TMOD2 TMOD2 . . . . . . 350 0.0053866 64976 341 0.00568466 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139977930 . . . . . . . . . . . . . . . . . . . . . . . 0.004470 . . . . . 0.0012 0.0035 0.0035 0.0009 0 0.0016 0.0058 0.0049 3.362e-05 0.0010 0.0038 0.0072 0 0 0.0026 0.0061 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs139977930 rs139977930 1 1538 10 1/0 0,255,255 +rs113958096 15 58306348 G A - ALDH1A2 15472 Aldehyde dehydrogenase 1 family, member A2 NM_003888.3 -1 3603 1557 NP_003879.2 O94788 substitution intron GRCh37 58306348 58306348 Chr15(GRCh37):g.58306348G>A 222+27 222+27 NM_003888.3:c.222+27C>T p.? p.? 2 2 603687 27 5' 89.5197 9.78772 0.998589 3.12973 89.5197 9.78772 0.998589 2.88383 0 rs113958096 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.008900 0.000000 0.003143 0.000874 0.000989 0.000691 0.000106 0.001495 0.005557 0.001474 0.003097 0.005557 870 21 34 7 2 46 702 38 20 276764 24022 34394 10134 18866 30778 126334 25778 6458 0.000036 0.000000 0.000000 0.000000 0.000000 0.000065 0.000047 0.000000 0.000310 5 0 0 0 0 1 3 0 1 860 21 34 7 2 44 696 38 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4375 12915 44 9 53 0.00512582 0.00205292 0.00408698 0.00512582 0.00205292 0.00408698 70 transition C T C>T 0.000 1.981 255 PASS . 0.0027 . . 0.01 . 0.0018 . . 0.0089 . . . . . . 0.38709676 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . 0.0021 0.0041 0.0051 0.0021 0.0041 0.0051 . 0.3986 . . . . . . . . 3.402e-03 . . . 0.0011 0.0034 0.0010 0.0002 0.0024 0.0061 0 0.0013 0.0010 0.0032 0.0010 0.0001 0.0017 0.0052 0.0014 0.0013 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.66 0.44 182 ENSG00000128918 ALDH1A2 ALDH1A2 . . . . . . 283 0.00435545 64976 274 0.00456773 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113958096 . . . . . . . . . . . . . . . . . . . . . . . 0.004087 . . . . 2.III 0.0009 0.0031 0.0010 0.0007 0.0001 0.0014 0.0054 0.0035 0.0015 0.0008 0.0036 0.0024 0 0 0.0020 0.0064 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs113958096 rs113958096 1 1538 10 1/0 0,255,255 +rs117519179 15 59179344 C T - SLTM 20709 SAFB like transcription modulator NM_024755.3 -1 4170 3105 NP_079031.2 Q9NWH9 substitution intron GRCh37 59179344 59179344 Chr15(GRCh37):g.59179344C>T 2691-26 2691-26 NM_024755.3:c.2691-26G>A p.? p.? 19 18 -26 3' 89.0677 9.80633 0.901832 8.69925 89.0677 9.80633 0.901832 8.90718 0 rs117519179 yes no Frequency/1000G 2 C 0.000000 0 0.004992 0.000000 0.014300 0.001000 0.006000 0.005800 0.004415 0.000167 0.002648 0.015245 0.000053 0.016950 0.003255 0.000156 0.005425 0.016950 1221 4 91 154 1 521 411 4 35 276532 24022 34366 10102 18860 30738 126284 25708 6452 0.000101 0.000000 0.000116 0.000198 0.000000 0.000455 0.000063 0.000000 0.000000 14 0 2 1 0 7 4 0 0 1193 4 87 152 1 507 403 4 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4383 12933 34 1 35 0.00396086 0.000228102 0.00269895 0.00396086 0.000228102 0.00269895 68 transition G A G>A 0.000 -1.247 255 PASS . 0.0041 0.01 0.0017 0.01 . 0.005 0.0058 0.001 0.006 0.014 . . . . . 0.4375 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . 0.0002 0.0027 0.004 0.0002 0.0027 0.004 . -0.0283 . . . . . . . . 4.855e-03 . . . 9.641e-05 0.0062 0.0042 0.0002 0 0.0053 0.0140 0.0171 0.0001 0.0052 0.0043 0.0003 0 0.0040 0.0115 0.0172 . . . . . . intronic intronic intronic . . . 0.0050 . . . 0.47 0.05 182 . SLTM SLTM . . . . . . 218 0.00335508 64976 193 0.00321742 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117519179 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.002699 . . . . . 0.0003 0.0047 0.0026 0.0153 5.801e-05 0.0001 0.0033 0.0057 0.0169 0 0.0018 0.0048 0.0132 0 0.0003 0.0029 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117519179 rs117519179 1 1538 10 1/0 0,255,255 +rs147579391 15 59430501 G T - MYO1E 7599 Myosin IE NM_004998.3 -1 5110 3327 NP_004989.2 Q12965 substitution missense exon GRCh37 59430501 59430501 Chr15(GRCh37):g.59430501G>T 3146 3146 NM_004998.3:c.3146C>A p.Pro1049His p.Pro1049His 27 601479 66 3' 84.9548 XII.96 0.978213 XI.41 84.9548 XII.96 0.978213 12.0487 0 rs147579391 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000000 0.008200 0.000000 0.001000 0.000000 0.002125 0.000250 0.001511 0.005813 0.000000 0.007732 0.001713 0.000000 0.002629 0.007732 589 6 52 59 0 238 217 0 17 277190 24022 34418 10150 18868 30780 126694 25792 6466 0.000043 0.000000 0.000116 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 6 0 2 0 0 4 0 0 0 577 6 48 59 0 230 217 0 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4381 12946 17 1 18 0.00198089 0.000228206 0.00138846 0.00198089 0.000228206 0.00138846 119 transversion C A C>A 1.000 6.259 P Pro CCC 0.328 H His CAC 0.587 1049 11 9 Tetraodon -2 -2 -4 0.39 0.58 8 10.IV 32.5 96 77 C0 208.64 74.33 Deleterious 0 IV.32 255 PASS . . . . . . 0.0018 . . 0.001 0.0082 . MYO1E:uc002aga.4:exon27:c.C3146A:p.P1049H MYO1E:NM_004998:exon27:c.C3146A:p.P1049H . . 0.41379312 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.900 . @ . . . . . 1 0.593 . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P1049H|MYO1E|mRNA|CODING|NM_004998|NM_004998.ex.27) 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . 0.4462 0.582 0.446 c . . . . . 2.344e-03 . . . 9.628e-05 0.0029 0.0021 0 0 0.0024 0.0084 0.008 0.0001 0.0025 0.0021 0 0 0.0020 0.0058 0.0080 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.629 . . exonic exonic exonic . . 0.917 0.0018 . . . 0.55 0.49 182 ENSG00000157483 MYO1E MYO1E . . . 1.0 0.983 . 128 0.00196996 64976 119 0.0019838 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.728 0.077 . . 37 . 0.407 . . 0.350 . . . 0.781 0.810 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.806 . . 0 0 0 0 0 0 . 0.279 . . 0.272 . . . . . . 0 0.912 . . . . . 0.976 . 0.643 . HET 0 rs147579391 . . . . . . . . . . . . 20.0435 2.68E-4 ENST00000288235 V.79 V.79 . 0.000000 Q12965 . . . 0.001388 . 0.919 . . V.79 0.0003 0.0023 0.0015 0.0058 0 0 0.0018 0.0031 0.0077 0.0002 0.0008 0.0024 0.0066 0 0 0.0013 0 . . 0.996 . 2.731 2.731000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.697 1.000 . 0.991 . 0.713 2.731 0.917 0.002 . . rs147579391 rs147579391 1 1538 10 1/0 0,255,255 +rs141565214 15 59519746 T C - MYO1E 7599 Myosin IE NM_004998.3 -1 5110 3327 NP_004989.2 Q12965 substitution missense exon GRCh37 59519746 59519746 Chr15(GRCh37):g.59519746T>C 554 554 NM_004998.3:c.554A>G p.Asp185Gly p.Asp185Gly 7 601479 44 3' 92.8522 8.46877 0.749819 3.98821 92.8522 8.46877 0.749819 3.67585 0 New Donor Site 59519747 1.16048 0.088989 68.1455 Myosin head, motor domain rs141565214 yes no Frequency/1000G 2 T 0.000000 0 0.001997 0.000000 0.009200 0.000000 0.001000 0.000000 0.002103 0.000291 0.000988 0.005713 0.000000 0.007959 0.001784 0.000000 0.002011 0.007959 583 7 34 58 0 245 226 0 13 277216 24032 34420 10152 18870 30782 126706 25788 6466 0.000043 0.000000 0.000000 0.000000 0.000000 0.000325 0.000000 0.000000 0.000309 6 0 0 0 0 5 0 0 1 571 7 34 58 0 235 226 0 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8565 4380 12945 15 0 15 0.00174825 0 0.00115741 0.00174825 0 0.00115741 117 CM156537 Nephrotic syndrome, steroid resistant 25349199 DM transition A G A>G 1.000 5.209 D Asp GAT 0.461 G Gly GGT 0.162 185 11 10 Tetraodon -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 168.08 51.67 Tolerated 0.2 III.97 255 PASS . . . . . . 0.002 . . 0.001 0.0092 . MYO1E:uc002aga.4:exon7:c.A554G:p.D185G MYO1E:NM_004998:exon7:c.A554G:p.D185G . . 0.49315068 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.664 . @ . . . . . 1 0.798 . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D185G|MYO1E|mRNA|CODING|NM_004998|NM_004998.ex.7) . 0.0012 0.0017 . 0.0012 0.0017 . 0.5396 0.612 0.540 c . . . . . 2.407e-03 . . . 9.626e-05 0.0030 0.0004 0 0.0003 0.0025 0.0070 0.0091 0.0001 0.0027 0.0004 0 0.0002 0.0022 0.0058 0.0091 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.870 . . exonic exonic exonic . . 0.975 0.0020 . . . 0.42 0.58 182 ENSG00000157483 MYO1E MYO1E . . . 1.000 0.747 . 78 0.00120044 64976 68 0.0011336 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.721 0.074 . . 37 . 0.871 . . 0.843 . . . 0.331 0.810 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.842 . . 0 0 0 0 0 0 . 0.456 . . 0.487 . . . . . . 0 0.133 . . . . . 0.842 . 0.809 . HET 0.08 rs141565214 . . . . . . . . . . . . 16.5446 0.0 ENST00000288235 6.II 6.II . 0.490000 Q12965 . . . 0.001157 . 0.834 . . 6.II 0.0003 0.0022 0.0010 0.0057 0 0 0.0018 0.0024 0.0080 0.0003 0.0011 0.0024 0.0066 0 0 0.0019 0 . . 0.854 . 2.311 2.311000 . . 0.490000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.886 . 0.807 2.311 0.991 0.0017 . . rs141565214 rs141565214 1 1538 10 1/0 0,255,255 +rs190769225 15 62160069 C A - VPS13C 23594 Vacuolar protein sorting 13 homolog C (S. cerevisiae) NM_020821.2 -1 13421 11262 NP_065872.1 Q709C8 substitution intron GRCh37 62160069 62160069 Chr15(GRCh37):g.62160069C>A 10863+789 10863+789 NM_020821.2:c.10863+789G>T p.? p.? 81 81 608879 789 5' 84.7938 8.39491 0.984796 3.20795 84.7938 8.39491 0.984796 3.20795 0 rs190769225 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.003000 0.000000 0.000000 0.002000 0.002900 0.000937 0.002979 0.000000 0.000000 0.000000 0.000000 0.000067 0.000286 0.001018 0.002979 29 26 0 0 0 0 1 1 1 30942 8728 836 302 1616 0 14986 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 26 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 PASS 39 Genomes 3168 1381 4549 0 3 3 0 0.00216763 0.000659051 0 0.00216763 0.000659051 92 transversion G T G>T 0.992 0.448 255 PASS 0.002 0.0014 0.0028 . 0.0013 0.003 0.0016 0.0029 . 0.002 . . . . . . 0.6296296 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . 0.0022 0.0007 . 0.0022 0.0007 . . 0.8263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0016 . . . 0.62 0.77 182 ENSG00000129003 VPS13C VPS13C . . . . . . 15 0.000230854 64976 7 0.000116694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs190769225 . . . . . . . . . . . . . . . . . . . . . . . 0.000659 . . . . . . . . . . . . . . 0.0030 0.0009 0 0 0 0.0003 6.673e-05 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs190769225 rs190769225 1 1538 10 1/0 0,255,255 +rs182064535 15 63620274 C T - CA12 1371 Carbonic anhydrase XII NM_001218.4 -1 4209 1065 NP_001209.1 O43570 substitution intron GRCh37 63620274 63620274 Chr15(GRCh37):g.63620274C>T 907+23 907+23 NM_001218.4:c.907+23G>A p.? p.? 9 9 603263 23 5' 76.7375 7.43136 0.897528 2.88201 76.7375 7.43136 0.897528 3.0103 0 rs182064535 yes no Frequency/1000G 2 C 0.000000 0 0.004393 0.000800 0.011200 0.004000 0.003000 0.004300 0.003773 0.000542 0.001482 0.002366 0.004505 0.016025 0.002357 0.002380 0.002942 0.016025 1044 13 51 24 85 493 298 61 19 276692 23996 34406 10142 18870 30764 126430 25626 6458 0.000072 0.000000 0.000000 0.000000 0.000106 0.000520 0.000000 0.000000 0.000310 10 0 0 0 1 8 0 0 1 1024 13 51 24 83 477 298 61 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4404 12983 21 2 23 0.00244186 0.000453926 0.00176841 0.00244186 0.000453926 0.00176841 58 transition G A G>A 0.000 -1.651 255 PASS 0.002 0.0041 0.01 0.01 0.0026 0.0008 0.0044 0.0043 0.004 0.003 0.011 . . . . . 0.46666667 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . 0.0005 0.0018 0.0024 0.0005 0.0018 0.0024 . -0.1146 . . . . . . . . 4.254e-03 . . . 0.0009 0.0046 0.0014 0.0036 0.0018 0.0026 0.0014 0.0155 0.0008 0.0046 0.0013 0.0051 0.0021 0.0029 0 0.0155 . . . . . . intronic intronic intronic . . . 0.0044 . . . 0.48 0.3 182 ENSG00000074410 CA12 CA12 . . . . . . 161 0.00247784 64976 140 0.00233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs182064535 . . . . . . . . . . . . . . . . . . . . . . . 0.001768 . . . . . 0.0007 0.0041 0.0015 0.0024 0.0046 0.0023 0.0024 0.0029 0.0160 0.0003 0.0016 0.0012 0 0.0031 0.0032 0.0017 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs182064535 rs182064535 1 1538 10 1/0 0,255,255 +. 15 63988310 A T - HERC1 4867 Hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 NM_003922.3 -1 15197 14586 NP_003913.3 Q15751 substitution intron GRCh37 63988310 63988310 Chr15(GRCh37):g.63988310A>T 5121+13 5121+13 NM_003922.3:c.5121+13T>A p.? p.? 27 27 605109 13 5' 89.9194 X.02 0.962758 3.77285 89.9194 X.02 0.962758 3.17967 0 transversion T A T>A 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.5588235 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||HERC1|mRNA|CODING|NM_003922|) . . . . . . . 0.5835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000259589 HERC1 HERC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs750477205 15 66787577 T G - MIR4512 41701 MicroRNA 4512 NR_039737.1 -1 77 0 substitution downstream GRCh37 66787577 66787577 Chr15(GRCh37):g.66787577T>G *1719 *1719 NR_039737.1:n.*1719A>C p.? p.? 1 transversion A C A>C 0.000 -0.279 231 PASS . . . . . . . . . . . . . . . . 0.24691358 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . 0.0309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000174446 SNAPC5 SNAPC5 ENST00000568875:c.*19A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs750477205 15 66787577 T G - SNAPC5 15484 Small nuclear RNA activating complex polypeptide 5 NM_001329615.1 -1 1349 297 NP_001316544.1 O75971 substitution intron GRCh37 66787577 66787577 Chr15(GRCh37):g.66787577T>G 180+91 180+91 NM_001329615.1:c.180+91A>C p.? p.? 2 2 605979 91 5' 78.5517 6.15857 0.959236 1.13503 78.5517 6.15857 0.959236 1.13503 0 Cryptic Acceptor Strongly Activated 66787568 I.56 0.002136 64.8202 1.90851 0.020915 67.8167 transversion A C A>C 0.000 -0.279 231 PASS . . . . . . . . . . . . . . . . 0.24691358 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . 0.0309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000174446 SNAPC5 SNAPC5 ENST00000568875:c.*19A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 15 66787579 T G - MIR4512 41701 MicroRNA 4512 NR_039737.1 -1 77 0 substitution downstream GRCh37 66787579 66787579 Chr15(GRCh37):g.66787579T>G *1717 *1717 NR_039737.1:n.*1717A>C p.? p.? 1 transversion A C A>C 0.000 0.690 195 PASS . . . . . . . . . . . . . . . . 0.14666666 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.2723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000174446 SNAPC5 SNAPC5 ENST00000568875:c.*17A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 15 66787579 T G - SNAPC5 15484 Small nuclear RNA activating complex polypeptide 5 NM_001329615.1 -1 1349 297 NP_001316544.1 O75971 substitution intron GRCh37 66787579 66787579 Chr15(GRCh37):g.66787579T>G 180+89 180+89 NM_001329615.1:c.180+89A>C p.? p.? 2 2 605979 89 5' 78.5517 6.15857 0.959236 1.13503 78.5517 6.15857 0.959236 1.13503 0 Cryptic Acceptor Strongly Activated 66787568 I.56 0.002136 64.8202 2.43952 0.016328 67.2836 transversion A C A>C 0.000 0.690 195 PASS . . . . . . . . . . . . . . . . 0.14666666 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.2723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000174446 SNAPC5 SNAPC5 ENST00000568875:c.*17A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs146831581 15 70371515 T G - MIR629 32885 MicroRNA 629 NR_030714.1 -1 97 0 substitution downstream GRCh37 70371515 70371515 Chr15(GRCh37):g.70371515T>G *196 *196 NR_030714.1:n.*196A>C p.? p.? 1 rs146831581 yes no Frequency/1000G 2 T 0.000000 0 0.005990 0.000000 0.015300 0.000000 0.011900 0.004300 0.004830 0.000804 0.005967 0.019868 0.000000 0.000000 0.008040 0.001433 0.006122 0.019868 149 7 5 6 0 0 120 5 6 30850 8702 838 302 1614 0 14926 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 149 7 5 6 0 0 120 5 6 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transversion A C A>C 0.000 -0.198 255 PASS . 0.01 0.01 . 0.02 . 0.006 0.0043 . 0.012 0.015 . . . . . 0.7096774 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.6317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.17 0.19 182 ENSG00000140332 TLE3 TLE3 . . . . . . 580 0.00892637 64976 550 0.00916881 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs146831581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0048 0.0060 0.0199 0 0.0014 0.0080 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs146831581 rs146831581 1 1538 10 1/0 0,255,255 +rs146831581 15 70371515 T G - TLE3 11839 Transducin-like enhancer of split 3 NM_005078.3 -1 5745 2319 NP_005069.2 Q04726 substitution intron GRCh37 70371515 70371515 Chr15(GRCh37):g.70371515T>G 235-3018 235-3018 NM_005078.3:c.235-3018A>C p.? p.? 5 4 600190 -3018 3' 87.2636 X.37 0.949655 8.77627 87.2636 X.37 0.949655 8.77627 0 Cryptic Acceptor Strongly Activated 70371501 0.011675 0.363013 0.052714 67.4151 rs146831581 yes no Frequency/1000G 2 T 0.000000 0 0.005990 0.000000 0.015300 0.000000 0.011900 0.004300 0.004830 0.000804 0.005967 0.019868 0.000000 0.000000 0.008040 0.001433 0.006122 0.019868 149 7 5 6 0 0 120 5 6 30850 8702 838 302 1614 0 14926 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 149 7 5 6 0 0 120 5 6 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transversion A C A>C 0.000 -0.198 255 PASS . 0.01 0.01 . 0.02 . 0.006 0.0043 . 0.012 0.015 . . . . . 0.7096774 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . 0.6317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.17 0.19 182 ENSG00000140332 TLE3 TLE3 . . . . . . 580 0.00892637 64976 550 0.00916881 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs146831581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0048 0.0060 0.0199 0 0.0014 0.0080 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs146831581 rs146831581 1 1538 10 1/0 0,255,255 +rs537372298 15 71839679 G A - THSD4 25835 Thrombospondin, type I, domain containing 4 NM_024817.2 1 9145 3057 NP_079093.2 Q6ZMP0 substitution intron GRCh37 71839679 71839679 Chr15(GRCh37):g.71839679G>A 1153-113190 1153-113190 NM_024817.2:c.1153-113190G>A p.? p.? 7 6 614476 -113190 3' 91.5616 XII.34 0.983048 XII.94 91.5616 XII.34 0.983048 XII.94 0 Cryptic Acceptor Strongly Activated 71839692 0.004089 0.628346 0.002068 63.7903 rs537372298 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.003584 0.001146 0.000000 0.000000 0.000000 0.000000 0.005531 0.003148 0.007128 0.005531 111 10 0 0 0 0 83 11 7 30970 8726 838 302 1622 0 15006 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 10 0 0 0 0 83 11 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 1.000 3.353 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.3409091 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . I.76 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . 0.0002 . . . . . . ENSG00000187720 THSD4 THSD4 ENST00000357769:c.-70G>A . NM_001286429:c.-70G>A . . . 3406 0.0524194 64976 3405 0.0567632 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs537372298 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv904334 . . . . . 4.VIII . . . . . . . . . 0.0011 0.0036 0 0 0 0.0031 0.0055 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781381893 (chr15:72932342 A/G) 15 72932342 A G Not on a known gene +rs62015899 (chr15:72934368 C/G) 15 72934368 C G Not on a known gene +rs201808410 15 72953667 G A - GOLGA6B 32205 Golgin A6 family, member B NM_018652.4 1 3178 2082 NP_061122.4 A6NDN3 substitution synonymous exon GRCh37 72953667 72953667 Chr15(GRCh37):g.72953667G>A 627 627 NM_018652.4:c.627G>A p.Ala209= p.Ala209Ala 8 -25 5' 90.6189 10.0684 0.983268 13.6579 90.6189 10.0684 0.983268 13.6007 0 rs201808410 yes no Frequency 1 G 0.000000 0 0.005309 0.001954 0.002423 0.000600 0.000053 0.000423 0.008798 0.006896 0.005814 0.008798 1438 45 83 6 1 13 1085 168 37 270858 23032 34256 10002 18802 30718 123322 24362 6364 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1436 45 83 6 1 13 1083 168 37 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 5152 2906 8058 44 8 52 0.00846805 0.00274537 0.00641184 0.00846805 0.00274537 0.00641184 55 transition G A G>A 0.646 -2.539 A Ala GCG 0.107 A Ala GCA 0.226 209 234 PASS . . . . . . . . . . . ENSG00000215186:ENST00000421285:exon8:c.G627A:p.A209A GOLGA6B:uc010uks.1:exon8:c.G627A:p.A209A GOLGA6B:NM_018652:exon8:c.G627A:p.A209A . . 0.2556391 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 133.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A209|GOLGA6B|mRNA|CODING|NM_018652|NM_018652.ex.8) 0.0027 0.0064 0.0085 0.0027 0.0064 0.0085 . -0.8615 . . . . . . . . 8.115e-03 . . . 0.0026 0.0072 0.0033 0.0006 0.0096 0.0128 0.0044 0.0008 0.0027 0.0073 0.0032 0.0004 0.0094 0.0118 0.0059 0.0007 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.37 182 ENSG00000215186 GOLGA6B GOLGA6B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201808410 . . . . . . . . . . . . . . . . . . . . . . . 0.006412 . . . . . 0.0013 0.0050 0.0023 0.0006 5.821e-05 0.0066 0.0086 0.0052 0.0004 0.0030 0.0074 0.0072 0 0 0.0086 0.0106 0.0092 . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.0085 . . rs201808410 rs201808410 1 1538 10 1/0 0,228,255 +rs539541365 15 72957437 C G - GOLGA6B 32205 Golgin A6 family, member B NM_018652.4 1 3178 2082 NP_061122.4 A6NDN3 substitution intron GRCh37 72957437 72957437 Chr15(GRCh37):g.72957437C>G 1593+61 1593+61 NM_018652.4:c.1593+61C>G p.? p.? 14 14 61 5' 80.6382 9.43568 0.942942 X.79 80.6382 9.43568 0.942942 X.86 0 rs539541365 yes no Frequency/1000G 2 C 0.000000 0 0.044329 0.021200 0.064400 0.041700 0.065600 0.033100 0.003506 0.003237 0.001404 0.006897 0.002415 0.000000 0.003600 0.004325 0.003409 0.006897 94 22 1 2 3 0 50 13 3 26814 6796 712 290 1242 0 13888 3006 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 94 22 1 2 3 0 50 13 3 0 0 0 0 0 0 0 0 0 RF 42 Genomes transversion C G C>G 0.165 1.255 192 PASS . . . . . 0.021 0.044 0.033 0.042 0.066 0.064 . . . . . 0.14035088 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . INTRON(MODIFIER||||GOLGA6B|mRNA|CODING|NM_018652|) . . . . . . . -0.2895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0443 . . . 0.29 0.12 182 ENSG00000215186 GOLGA6B GOLGA6B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs539541365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0035 0.0014 0.0069 0.0024 0.0043 0.0036 0.0034 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs2740414 rs2740414 rs2740414 rs2740414 1 1538 10 1/0 0,224,255 +rs192808708 15 73635662 C A - HCN4 16882 Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 NM_005477.2 -1 7228 3612 NP_005468.1 Q9Y3Q4 substitution intron GRCh37 73635662 73635662 Chr15(GRCh37):g.73635662C>A 1209+64 1209+64 NM_005477.2:c.1209+64G>T p.? p.? 2 2 605206 64 5' 96.9453 11.0785 0.997818 9.90775 96.9453 11.0785 0.997818 9.93523 0 rs192808708 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.008000 0.002900 0.003328 0.000688 0.000000 0.003311 0.000000 0.000000 0.005337 0.003721 0.003061 0.005337 103 6 0 1 0 0 80 13 3 30948 8722 838 302 1622 0 14990 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 6 0 1 0 0 80 13 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 0.000 0.609 255 PASS . 0.0023 0.01 . 0.004 . 0.002 0.0029 . 0.008 . . . . . . 0.5289256 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . INTRON(MODIFIER||||HCN4|mRNA|CODING|NM_005477|) . . . . . . . 0.1254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.41 0.25 182 ENSG00000138622 HCN4 HCN4 . . . . . . 195 0.00300111 64976 185 0.00308405 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192808708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0033 0 0.0033 0 0.0037 0.0053 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs192808708 rs192808708 1 1538 10 1/0 0,248,254 +. 15 74370139 A G - GOLGA6A 13567 Golgin A6 family, member A NM_001038640.2 -1 3176 2082 NP_001033729.2 Q9NYA3 substitution intron GRCh37 74370139 74370139 Chr15(GRCh37):g.74370139A>G 286-45 286-45 NM_001038640.2:c.286-45T>C p.? p.? 4 3 610288 -45 3' 79.5333 9.30898 0.909948 9.28097 79.5333 9.30898 0.909948 9.24665 0 0.000148 0.000804 0.000000 0.000000 0.000000 0.000000 0.000098 0.000000 0.000000 0.000804 3 2 0 0 0 0 1 0 0 20338 2488 1500 240 1352 714 10176 3164 704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.360 203 PASS . . . . . . . . . . . . . . . . 0.16853933 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||GOLGA6A|mRNA|CODING|NM_001038640|) . . . . . . . -0.2881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000159289 GOLGA6A GOLGA6A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.005 0.0002 0 0 0 0 0 0 0 0.0004 0.0001 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs4335750 rs4335750 rs4335750 rs4335750 1 1538 10 1/0 0,238,255 +rs771081660 (chr15:74387552 G/C) 15 74387552 G C Not on a known gene +. (chr15:74389578 T/C) 15 74389578 T C Not on a known gene +rs183039083 15 74421025 C T - ISLR2 29286 Immunoglobulin superfamily containing leucine-rich repeat 2 NM_001130138.1 1 4261 2238 NP_001123610.1 Q6UXK2 substitution upstream GRCh37 74421025 74421025 Chr15(GRCh37):g.74421025C>T -1778 -1778 NM_001130138.1:c.-1778C>T p.? p.? 1 614179 -1592 5' 76.0828 5.87573 0.820886 1.37612 76.0828 5.87573 0.820886 1.37612 0 rs183039083 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.015100 0.000000 0.000000 0.000000 0.001400 0.002782 0.014718 0.001028 0.001820 0.000000 0.000000 0.002648 0.001024 0.001543 0.014718 439 215 25 15 0 0 168 9 7 157824 14608 24328 8244 11442 22432 63442 8790 4538 0.000051 0.000548 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 4 0 0 0 0 0 0 0 431 207 25 15 0 0 168 9 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.044 255 PASS 0.02 0.01 0.0028 . . 0.015 0.0042 0.0014 . . . ENSG00000248540:ENST00000563727:exon1:c.G53A:p.R18K . . . . 0.42553192 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.8051 . . . . . . . . 1.019e-03 . . . 0.0210 0.0008 0 0 . 0.0014 0 0 0.0204 0.0007 0 0 . 0.0015 0 0 nonsynonymous_SNV . . . . . exonic intronic ncRNA_intronic . . . 0.0042 . . . 0.17 0.51 182 ENSG00000248540 LOC283731 LOC283731 . . . . . . 114 0.00175449 64976 93 0.00155036 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183039083 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0144 0.0019 0.0011 0.0018 0 0.0008 0.0024 0.0008 0 0.0149 0.0062 0 0.0033 0 0.0014 0.0035 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs183039083 rs183039083 1 1538 10 1/0 0,255,255 +. 15 74659644 T G - CYP11A1 2590 Cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781.2 -1 1931 1566 NP_000772.2 P05108 substitution intron GRCh37 74659644 74659644 Chr15(GRCh37):g.74659644T>G 269+14 269+14 NM_000781.2:c.269+14A>C p.? p.? 1 1 118485 14 5' 94.2214 9.88355 0.998299 8.72904 94.2214 9.88355 0.998299 9.08196 0 transversion A C A>C 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.5327869 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . -0.3414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000140459 CYP11A1 CYP11A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +rs112365833 (chr15:75524822 G/A) 15 75524822 G A Not on a known gene +. 15 75554758 G A - GOLGA6C 32206 Golgin A6 family, member C NM_001164404.1 1 5379 2082 NP_001157876.1 A6NDK9 substitution synonymous exon GRCh37 75554758 75554758 Chr15(GRCh37):g.75554758G>A 210 210 NM_001164404.1:c.210G>A p.Gln70= p.Gln70Gln 3 6 3' 74.7894 7.09835 0.144973 5.56391 74.7894 7.09835 0.099336 5.73282 -0.104932 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition G A G>A 0.984 0.448 Q Gln CAG 0.744 Q Gln CAA 0.256 70 190 PASS . . . . . . . . . . . ENSG00000167195:ENST00000300576:exon3:c.G210A:p.Q70Q GOLGA6C:uc002azs.2:exon3:c.G210A:p.Q70Q GOLGA6C:NM_001164404:exon3:c.G210A:p.Q70Q . . 0.1369863 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q70|GOLGA6C|mRNA|CODING|NM_001164404|NM_001164404.ex.3) . . . . . . . -0.2937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167195 GOLGA6C GOLGA6C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 15 75559279 C T - GOLGA6C 32206 Golgin A6 family, member C NM_001164404.1 1 5379 2082 NP_001157876.1 A6NDK9 substitution synonymous exon GRCh37 75559279 75559279 Chr15(GRCh37):g.75559279C>T 1405 1405 NM_001164404.1:c.1405C>T p.Leu469= p.Leu469Leu 12 -21 5' 75.4126 4.40925 0.310374 8.27118 75.4126 4.40925 0.310374 VII.81 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition C T C>T 1.000 1.577 L Leu CTG 0.404 L Leu TTG 0.127 469 188 PASS . . . . . . . . . . . ENSG00000167195:ENST00000300576:exon12:c.C1405T:p.L469L GOLGA6C:uc002azs.2:exon12:c.C1405T:p.L469L GOLGA6C:NM_001164404:exon12:c.C1405T:p.L469L . . 0.13114753 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L469|GOLGA6C|mRNA|CODING|NM_001164404|NM_001164404.ex.12) . . . . . . . 0.0114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.33 182 ENSG00000167195 GOLGA6C GOLGA6C . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs62005667 rs62005667 rs62005667 rs62005667 1 1538 10 1/0 0,250,255 +rs777600977 15 75561321 T G - GOLGA6C 32206 Golgin A6 family, member C NM_001164404.1 1 5379 2082 NP_001157876.1 A6NDK9 substitution intron GRCh37 75561321 75561321 Chr15(GRCh37):g.75561321T>G 1593+92 1593+92 NM_001164404.1:c.1593+92T>G p.? p.? 14 14 92 5' 80.6382 9.43568 0.942942 X.25 80.6382 9.43568 0.942942 X.25 0 rs777600977 no no 0 0.000000 0 0.009130 0.028098 0.004178 0.012000 0.002072 0.000000 0.001882 0.001620 0.000000 0.028098 226 190 3 3 3 0 22 5 0 24754 6762 718 250 1448 0 11690 3086 800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 226 190 3 3 3 0 22 5 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transversion T G T>G 0.236 -0.763 197 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . INTRON(MODIFIER||||GOLGA6C|mRNA|CODING|NM_001164404|) . . . . . . . -0.5913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167195 GOLGA6C GOLGA6C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs777600977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0281 0.0091 0.0042 0.012 0.0021 0.0016 0.0019 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +rs754579570 15 75579039 G A - GOLGA6D 32204 Golgin A6 family, member D NM_001145224.1 1 3449 2082 NP_001138696.1 P0CG33 substitution synonymous exon GRCh37 75579039 75579039 Chr15(GRCh37):g.75579039G>A 210 210 NM_001145224.1:c.210G>A p.Gln70= p.Gln70Gln 3 6 3' 74.7894 7.09835 0.144973 5.56391 74.7894 7.09835 0.099336 5.73282 -0.104932 rs754579570 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 1.000 1.255 Q Gln CAG 0.744 Q Gln CAA 0.256 70 199 PASS . . . . . . . . . . . ENSG00000140478:ENST00000434739:exon3:c.G210A:p.Q70Q GOLGA6D:uc010uma.2:exon3:c.G210A:p.Q70Q GOLGA6D:NM_001145224:exon3:c.G210A:p.Q70Q . . 0.15853658 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 82.0 . . SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q70|GOLGA6D|mRNA|CODING|NM_001145224|NM_001145224.ex.3) . . . . . . . 0.3880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000140478 GOLGA6D GOLGA6D . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754579570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 15 75583167 G T - GOLGA6D 32204 Golgin A6 family, member D NM_001145224.1 1 3449 2082 NP_001138696.1 P0CG33 substitution synonymous exon GRCh37 75583167 75583167 Chr15(GRCh37):g.75583167G>T 1293 1293 NM_001145224.1:c.1293G>T p.Ala431= p.Ala431Ala 11 -64 5' 77.0459 6.28946 0.056153 9.40968 77.0459 6.28946 0.056153 9.02631 0 Cryptic Acceptor Strongly Activated 75583177 4.41816 0.151396 79.3169 5.IX 0.449344 82.9743 transversion G T G>T 0.961 -1.005 A Ala GCG 0.107 A Ala GCT 0.263 431 221 PASS . . . . . . . . . . . ENSG00000140478:ENST00000434739:exon11:c.G1293T:p.A431A GOLGA6D:uc010uma.2:exon11:c.G1293T:p.A431A GOLGA6D:NM_001145224:exon11:c.G1293T:p.A431A . . 0.2195122 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcT|A431|GOLGA6D|mRNA|CODING|NM_001145224|NM_001145224.ex.11) . . . . . . . -0.5851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.39 182 ENSG00000140478 GOLGA6D GOLGA6D . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . rs71411078 rs71411078 rs71411078 1 1538 10 1/0 0,255,255 +rs62029712 15 75651040 T C - MAN2C1 6827 Mannosidase, alpha, class 2C, member 1 NM_001256494.1 -1 3332 3174 NP_001243423.1 substitution splice site GRCh37 75651040 75651040 Chr15(GRCh37):g.75651040T>C 2297+5 2297+5 NM_001256494.1:c.2297+5A>G p.? p.? 19 19 154580 5 5' 63.4351 5.26684 0.091378 5.27289 75.5866 8.47241 0.97578 6.35641 III.29 Cryptic Donor Strongly Activated 75651045 5.26684 0.091378 63.4351 8.47241 0.97578 75.5866 rs62029712 yes no Frequency/1000G 2 T 0.000000 0 0.000045 0.000133 0.000000 0.000000 0.000093 0.000041 0.000032 0.000097 0.000000 0.000133 9 2 0 0 1 1 3 2 0 202062 15044 23300 8500 10784 24478 94908 20546 4502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 0 1 1 3 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3956924|COSM3956924|COSM3956924 Lung|Large intestine|Haematopoietic and lymphoid tissue 0.000419|0.000448|0.000567 2389|2231|3530 transition A G A>G 0.000 0.367 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . . . . . . . . 0.4703 . . . . . . . . 2.289e-04 . . . 0.0001 0.0002 0 0.0002 0 0.0003 0 6.3e-05 0.0001 0.0002 0 0.0001 0.0002 0.0003 0 6.339e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.14 182 ENSG00000140400 MAN2C1 MAN2C1 . . . . . . 1920 0.0295494 64976 1920 0.0320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs62029712 . . . . . . . . . . . . . . . . . . . . 0.0002 0.012 . . . . . . . 8.905e-05 4.29e-05 0 0 9.531e-05 0.0001 3.407e-05 0 4.085e-05 0.0003 6.417e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62029712 rs62029712 rs62029712 rs62029712 1 1538 10 1/0 0,249,255 +rs774975147 15 75971112 C T - CSPG4 2466 Chondroitin sulfate proteoglycan 4 NM_001897.4 -1 8290 6969 NP_001888.2 Q6UVK1 substitution intron GRCh37 75971112 75971112 Chr15(GRCh37):g.75971112C>T 4951-885 4951-885 NM_001897.4:c.4951-885G>A p.? p.? 9 8 601172 -885 3' 76.794 10.649 0.952127 IX.81 76.794 10.649 0.952127 IX.81 0 rs774975147 yes no Frequency 1 C 0.000000 0 0.000427 0.000000 0.000041 0.003061 0.000000 0.000000 0.000632 0.000114 0.000223 0.003061 66 0 1 25 0 0 38 1 1 154480 14562 24444 8166 11470 22444 60114 8802 4478 0.000013 0.000000 0.000000 0.000245 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 64 0 1 23 0 0 38 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.367 255 PASS . . . . . . . . . . . ENSG00000203392:ENST00000435356:exon1:c.C272T:p.S91F . . . . 0.41095892 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . INTRON(MODIFIER||||CSPG4|mRNA|CODING|NM_001897|) . . . . . . . -0.5855 . . . . . . . . 4.390e-04 . . . 0 0.0006 0 0 . 0.0022 0 0 0 0.0006 0 0 . 0.0022 0 0 nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000203392 CSPG4 CSPG4 . . . . . . 13 0.000200074 64976 13 0.000216717 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs774975147 . . . . . . . . . . . . IV.77 . ENST00000435356 I.97 1.III . 0.000000 . . . . . . . . . . 0 0.0004 4.236e-05 0.0029 0 0 0.0007 0.0003 0 0 0.0004 0 0.0066 0 0.0003 0.0005 0 . . . . 0.403 0.403000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.403 . . . . . . 1 1538 10 1/0 0,255,255 +rs751712417 15 76054552 A G - MIR4313 38310 MicroRNA 4313 NR_036198.1 -1 101 0 substitution downstream GRCh37 76054552 76054552 Chr15(GRCh37):g.76054552A>G *4 *4 NR_036198.1:n.*4T>C p.? p.? 1 rs751712417 yes no Frequency 1 0.000000 0 0.000423 0.000569 0.001096 0.000000 0.000000 0.000000 0.000417 0.000000 0.000945 0.001096 15 5 1 0 0 0 8 0 1 35478 8788 912 444 1610 84 19180 3402 1058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 5 1 0 0 0 8 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -1.167 181 PASS . . . . . . . . . . . . . . . . 0.11578947 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . DOWNSTREAM(MODIFIER||||MIR4313|Non-coding_transcript|NON_CODING|NR_036198|) . . . . . . . -0.6621 . . . . . . . . 2.440e-03 . . . 0.0123 0.0085 0.0122 0 0 0.0081 0 0 0 0 0 0 0 0 . 0 . . . . . . ncRNA_exonic downstream downstream . . . @ . . . . . . ENSG00000261043 MIR4313 MIR4313 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs751712417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0009 0 0 0 0 0.0008 0.0091 0 0.0006 0.0003 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +. 15 77234101 C CT - RCN2 9935 Reticulocalbin 2, EF-hand calcium binding domain NM_001271837.1 1 2267 1008 NP_001258766.1 duplication intron GRCh37 77234114 77234115 Chr15(GRCh37):g.77234114dup 501+83 501+83 NM_001271837.1:c.501+83dup p.? p.? 4 4 602584 83 5' 76.9374 5.19762 0.425506 0 76.9374 5.19762 0.425506 0 0 rs368257080 yes no Frequency 1 0.000000 0 0.007640 0.003588 0.021645 0.004310 0.002554 0.000000 0.003805 0.072402 0.021798 0.072402 196 29 10 1 4 0 51 85 16 25654 8082 462 232 1566 0 13404 1174 734 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 196 29 10 1 4 0 51 85 16 0 0 0 0 0 0 0 0 0 RF 44 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.64 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000117906 RCN2 RCN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368257080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0076 0.0216 0.0043 0.0026 0.0724 0.0038 0.0218 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,19 +rs141227274 15 77329409 C T - PSTPIP1 9580 Proline-serine-threonine phosphatase interacting protein 1 NM_001321137.1 1 1855 1446 NP_001308066.1 substitution synonymous exon GRCh37 77329409 77329409 Chr15(GRCh37):g.77329409C>T 1338 1338 NM_001321137.1:c.1338C>T p.Ser446= p.Ser446Ser 16 606347 24 3' 76.0487 4.50136 0.34837 7.48342 76.0487 4.50136 0.34837 7.31926 0 rs141227274 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.001678 0.000502 0.000291 0.000991 0.000318 0.000617 0.002206 0.004589 0.001713 0.004589 462 12 10 10 6 19 276 118 11 275294 23914 34406 10094 18854 30776 125112 25716 6422 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 460 12 8 10 6 19 276 118 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8322 4026 12348 16 2 18 0.00191893 0.000496524 0.0014556 0.00191893 0.000496524 0.0014556 84 RCV000329781.1 germline clinical testing Likely benign 1 Pyogenic arthritis, pyoderma gangrenosum and acne transition C T C>T 0.031 -1.247 S Ser TCC 0.220 S Ser TCT 0.185 446 255 PASS 0.002 0.0009 . . 0.0013 0.0008 0.0004 . . 0.001 . . . PSTPIP1:NM_003978:exon15:c.C1143T:p.S381S . . 0.49006623 . . germline 74 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Likely//\@benign Likely_benign RCV000329781.1 . MedGen:OMIM:Orphanet C1858361:604416:ORPHA69126 2 . . . 151.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S381|PSTPIP1|mRNA|CODING|NM_003978|NM_003978.ex.15) 0.0005 0.0015 0.0019 0.0005 0.0015 0.0019 . 0.0919 . . . . . . . . 1.380e-03 . . . 0.0002 0.0012 8.688e-05 0.0004 0.0053 0.0017 0.0015 0.0004 0.0002 0.0012 8.945e-05 0.0003 0.0051 0.0015 0.0015 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.45 0.47 182 ENSG00000140368 PSTPIP1 PSTPIP1 . . . . . . 75 0.00115427 64976 73 0.00121695 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141227274 . . . . . . . . . . . . . . . . . . . . . . . 0.001456 . . . . . 0.0004 0.0014 0.0003 0.0010 0.0003 0.0047 0.0017 0.0007 0.0006 0.0007 0.0036 0 0 0 0.0040 0.0056 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs141227274 rs141227274 1 1538 10 1/0 0,240,255 +rs376678630 (chr15:78213892 C/T) 15 78213892 C T Not on a known gene +rs368507265 (chr15:78213910 T/A) 15 78213910 T A Not on a known gene +rs141194056 15 79603760 G A - TMED3 28889 Transmembrane p24 trafficking protein 3 NM_007364.3 1 1475 654 NP_031390.1 Q9Y3Q3 substitution splice site GRCh37 79603760 79603760 Chr15(GRCh37):g.79603760G>A 168+1 168+1 NM_007364.3:c.168+1G>A p.? p.? 1 1 1 5' 90.6189 10.0684 0.993216 13.1074 0 0 0 0 -1 rs141194056 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.003372 0.000586 0.000923 0.005066 0.000000 0.000726 0.004627 0.007995 0.004784 0.007995 872 13 31 49 0 21 537 192 29 258602 22188 33602 9672 18082 28926 116056 24014 6062 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 2 0 0 0 0 0 2 0 0 868 13 31 49 0 21 533 192 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4387 12929 38 3 41 0.0044289 0.000683371 0.00316114 0.0044289 0.000683371 0.00316114 20 transition G A G>A 1.000 4.725 255 PASS . 0.0009 . . 0.0026 . 0.0002 . . 0.001 . . . . . . 0.43243244 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.796 . @ . . . . . 0 0.655 . . 74.0 . . . 0.0007 0.0032 0.0044 0.0007 0.0032 0.0044 . 1.1578 0.991 1.158 c . . . . . 2.891e-03 . . . 0.0003 0.0040 0.0011 0 0.0142 0.0068 0.0044 0.0010 0.0004 0.0035 0.0010 0 0.0114 0.0052 0.0050 0.0010 . . . . . . splicing splicing splicing . . 0.593 0.0002 . . . 0.35 0.44 182 ENSG00000166557 TMED3 TMED3 . . . 1.0 0.983 . 207 0.00318579 64976 206 0.00343413 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . 0.730 . . . HET . rs141194056 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 15.2404 5.35E-4 . IV.73 IV.73 . . . 1.0000 0.94 . 0.003161 . 0.749 . . IV.73 0.0004 0.0032 0.0009 0.0048 0 0.0078 0.0045 0.0037 0.0007 0.0009 0.0045 0.0012 0.0132 0 0.0092 0.0057 0.0102 . . 0.018 . 2.442 2.442000 . . . . . 1.0E-255 1.000 0.715 . 0.562 0.934 . 0.934 . 0.605 2.442 0.917 0.0044 . . rs141194056 rs141194056 1 1538 10 1/0 0,255,255 +. 15 82593434 C A - ADAMTS7P1 49407 ADAMTS7 pseudogene 1 NR_045529.1 1 5032 0 substitution exon GRCh37 82593434 82593434 Chr15(GRCh37):g.82593434C>A 504 504 NR_045529.1:n.504C>A 3 -71 5' 83.7411 9.54919 0.989737 5.88299 83.7411 9.54919 0.989737 5.31132 0 transversion C A C>A 0.992 2.385 255 PASS . . . . . . . . . . . . . . . . 0.5809524 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 105.0 . . STOP_GAINED(HIGH|NONSENSE|taC/taA|Y168*|ADAMTS7P1|Non-coding_transcript|NON_CODING|NR_045529|NR_045529.ex.3) . . . . . . . 0.7873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.5 182 ENSG00000259785 LOC390660 ADAMTS7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62617855 rs62617855 rs62617855 rs62617855 1 1538 10 1/0 0,255,255 +. 15 82608638 C T - ADAMTS7P1 49407 ADAMTS7 pseudogene 1 NR_045529.1 1 5032 0 substitution intron GRCh37 82608638 82608638 Chr15(GRCh37):g.82608638C>T 1127-68 1127-68 NR_045529.1:n.1127-68C>T p.? p.? 9 8 -68 3' 72.4038 7.75404 0.439663 5.75314 72.4038 7.75404 0.439663 5.743 0 transition C T C>T 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.46938777 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . INTRON(MODIFIER||||ADAMTS7P1|Non-coding_transcript|NON_CODING|NR_045529|) . . . . . . . -0.3496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.47 182 ENSG00000259785 LOC390660 ADAMTS7P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs34017158 rs34017158 rs34017158 rs34017158 1 1538 10 1/0 0,255,255 +. (chr15:82636686 G/A) 15 82636686 G A Not on a known gene +. (chr15:82638130 G/A) 15 82638130 G A Not on a known gene +. (chr15:82641553 T/C) 15 82641553 T C Not on a known gene +. 15 82722301 G A - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution missense exon GRCh37 82722301 82722301 Chr15(GRCh37):g.82722301G>A 17 17 NM_198181.3:c.17G>A p.Arg6His p.Arg6His 1 -68 5' 82.2129 8.37568 0.951569 VIII.65 82.2129 8.37568 0.951569 8.18155 0 transition G A G>A 0.000 -0.521 R Arg CGC 0.190 H His CAC 0.587 6 12 2 Chimp 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.54 III.39 255 PASS . . . . . . . . . . . ENSG00000197978:ENST00000300515:exon1:c.G17A:p.R6H GOLGA6L9:uc010blt.3:exon1:c.G17A:p.R6H GOLGA6L9:NM_198181:exon1:c.G17A:p.R6H . . 0.71428573 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 7.0 . . . . . . . . . . -1.0161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000197978 GOLGA6L9 GOLGA6L9 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.12 . . . . . . . . . . . . . . . ENST00000300515 0.311 -0.622 . 0.300000 A6NEM1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.520 -0.520000 . . 0.300000 . . 1.0E-255 . . . . . . . . . -0.520 . . . . . . 1 1538 10 1/0 0,255,255 +rs62011155 15 82724657 G T - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution intron GRCh37 82724657 82724657 Chr15(GRCh37):g.82724657G>T 205-116 205-116 NM_198181.3:c.205-116G>T p.? p.? 3 2 -116 3' 73.7117 0 0.000793 0 73.7117 0 0.000793 0 0 rs62011155 no no 0 G 0.000000 0 transversion G T G>T 0.055 0.205 255 PASS . . . . . . . . . . . . . . . . 0.43396226 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.3572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . . GOLGA6L9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62011155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62011155 rs62011155 rs62011155 rs62011155 1 1538 10 1/0 0,255,255 +. 15 82724986 T C - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution intron GRCh37 82724986 82724986 Chr15(GRCh37):g.82724986T>C 265-32 265-32 NM_198181.3:c.265-32T>C p.? p.? 4 3 -32 3' 72.9796 6.75121 0.161505 4.54975 72.9796 6.75121 0.161505 4.76492 0 transition T C T>C 0.016 -1.732 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . -0.7553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . . GOLGA6L9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs76059359 rs76059359 1 1538 255 1.I 0,0,255 +rs62011761 15 82725760 C T - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution splice site GRCh37 82725760 82725760 Chr15(GRCh37):g.82725760C>T 346-3 346-3 NM_198181.3:c.346-3C>T p.? p.? 5 4 -3 3' 88.2666 8.39509 0.953233 X.61 82.0898 7.83346 0.966023 7.63917 -0.0411535 Cryptic Donor Strongly Activated 82725758 74.0731 6.85751 0.742712 76.8306 rs62011761 no no 0 C 0.000000 0 transition C T C>T 0.008 0.367 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.1971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . . GOLGA6L9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62011761 . . . . . . . . . . . . . . . . . . . . 0.0014 0.128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62011761 rs62011761 rs62011761 rs62011761 1 1538 10 1/0 0,255,255 +. (chr15:82726569 A/G) 15 82726569 A G Transcript NM_198181.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) GOLGA6L9 +. 15 82727059 C T - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution intron GRCh37 82727059 82727059 Chr15(GRCh37):g.82727059C>T 1003-10 1003-10 NM_198181.3:c.1003-10C>T p.? p.? 7 6 -10 3' 89.4439 8.02486 0.952497 XI.78 92.7265 7.57588 0.961206 X.92 -0.00336813 transition C T C>T 0.370 -0.521 233 PASS . . . . . . . . . . . . . . . . 0.2580645 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.2430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000237550 GOLGA6L9 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs3984797 rs3887964 rs3984797 rs3984797 1 1538 10 1/0 0,255,255 +. 15 82728232 G T - GOLGA6L9 37229 Golgin A6 family-like 9 NM_198181.3 1 4375 1299 NP_937824.3 A6NEM1 substitution missense exon GRCh37 82728232 82728232 Chr15(GRCh37):g.82728232G>T 1129 1129 NM_198181.3:c.1129G>T p.Val377Phe p.Val377Phe 8 -38 5' 84.0719 8.94615 0.982269 8.40807 84.0719 8.94615 0.982269 8.29632 0 Cryptic Acceptor Strongly Activated 82728242 0.000732 1.55627 0.014135 72.7099 transversion G T G>T 0.008 -1.489 V Val GTC 0.240 F Phe TTC 0.546 377 12 2 Chimp 0 -1 -2 0 0 5.IX 5.II 84 132 50 C0 353.86 0.00 Tolerated 0.44 III.22 255 PASS . . . . . . . . . . . ENSG00000197978:ENST00000300515:exon8:c.G1129T:p.V377F GOLGA6L9:uc010blt.3:exon8:c.G1129T:p.V377F . . . 0.37037036 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 27.0 . . . . . . . . . . -1.1800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000197978 GOLGA6L9 GOLGA6L9 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.29 . . . . . . . . . . . . . . . ENST00000300515 . . . 0.020000 A6NEM1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.505 -1.505000 . . 0.020000 . . 1.0E-255 . . . . . . . . . -1.505 . . rs4454928 rs4454928 rs4454928 rs4454928 1 1538 10 1/0 0,255,255 +. (chr15:82754666 C/T) 15 82754666 C T Not on a known gene +. (chr15:82754722 C/T) 15 82754722 C T Not on a known gene +. (chr15:82754781 C/T) 15 82754781 C T Not on a known gene +rs879952152 (chr15:82754949 A/G) 15 82754949 A G Not on a known gene +rs879962675 (chr15:82754984 C/T) 15 82754984 C T Not on a known gene +. (chr15:82755131 G/A) 15 82755131 G A Not on a known gene +. (chr15:82755176 C/T) 15 82755176 C T Not on a known gene +. (chr15:82755281 C/A) 15 82755281 C A Not on a known gene +. (chr15:82755482 A/G) 15 82755482 A G Not on a known gene +. (chr15:82755694 C/T) 15 82755694 C T Not on a known gene +. (chr15:82755904 G/A) 15 82755904 G A Not on a known gene +rs62011816 (chr15:82766893 G/A) 15 82766893 G A Not on a known gene +rs62011829 (chr15:82769516 C/G) 15 82769516 C G Not on a known gene +. (chr15:82806577 A/G) 15 82806577 A G Transcript NR_111962.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) GOLGA6L17P +. 15 82809382 G A - GOLGA6L17P 49414 Golgin A6 family-like 17, pseudogene NR_111962.1 1 1895 0 substitution exon GRCh37 82809382 82809382 Chr15(GRCh37):g.82809382G>A 1595 1595 NR_111962.1:n.1595G>A 7 -10 5' 80.8983 8.18959 0.80755 3.66207 80.8983 8.18959 0.80755 3.97916 0 transition G A G>A 0.063 -1.328 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.3685 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000186322 LOC161527 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . rs3877061 . rs3877061 rs3877061 1 1538 10 1/0 0,255,255 +rs1651959 15 82822408 C G - RPS17 10397 Ribosomal protein S17 NM_001021.5 -1 595 408 NP_001012.1 P08708 substitution intron GRCh37 82822408 82822408 Chr15(GRCh37):g.82822408C>G 327+306 327+306 NM_001021.5:c.327+306G>C p.? p.? 4 4 180472 306 5' 87.3609 X.15 0.993726 7.44777 87.3609 X.15 0.993726 7.44777 0 rs1651959 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 -0.440 111 PASS . . . . . . . . . . . ENSG00000184779:ENST00000560826:exon5:c.G370C:p.A124P . . . . 1.0 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.2296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.38 0.7 182 ENSG00000184779 AK097432 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HOM . rs1651959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs1651959 rs1651959 rs1651959 rs148810247 1 1538 255 1.I 0,0,255 +rs6991 15 82823390 A G - RPS17 10397 Ribosomal protein S17 NM_001021.5 -1 595 408 NP_001012.1 P08708 substitution synonymous exon GRCh37 82823390 82823390 Chr15(GRCh37):g.82823390A>G 159 159 NM_001021.5:c.159T>C p.Tyr53= p.Tyr53Tyr 3 180472 4 3' 78.3585 6.92111 0.798713 7.79659 78.3585 6.92111 0.782798 8.05875 -0.00664194 Ribosomal protein S17e rs6991 yes no Frequency 1 uncertain_significance,pathogenic 0.000000 0 transition T C T>C 1.000 3.514 Y Tyr TAT 0.438 Y Tyr TAC 0.562 53 111 PASS . . . . . . . . . . . . RPS17L:uc002bhr.1:exon3:c.T159C:p.Y53Y RPS17:NM_001021:exon3:c.T159C:p.Y53Y . . 1.0 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ Pathogenic RCV000087020.3 Diamond-Blackfan_anemia_4 MedGen:OMIM C2675860:612527 1 . . . 15.0 . . . . . . . . . . 0.8527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.56 0.69 182 ENSG00000184779 RPS17L RPS17 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 1 . . . 0 0 0 0 1 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . rs6991 . . . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dDiamond-Blackfan_anemia_4\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000087020.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dNBK7047:C2675860:612527:ORPHA124 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dDiamond-Blackfan_anemia_4\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000087020.2\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dNBK7047:C2675860:612527:ORPHA124 . . . . . . . . . . . . . . . . . . . . . . 2.III . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs6991 rs6991 rs6991 rs142262304 1 1538 255 1.I 0,0,255 +rs919417 15 82823423 G A - RPS17 10397 Ribosomal protein S17 NM_001021.5 -1 595 408 NP_001012.1 P08708 substitution intron GRCh37 82823423 82823423 Chr15(GRCh37):g.82823423G>A 156-30 156-30 NM_001021.5:c.156-30C>T p.? p.? 3 2 180472 -30 3' 78.3585 6.92111 0.798713 7.79659 78.3585 6.92111 0.798713 7.58633 0 rs919417 yes no Frequency 1 0.000000 0 transition C T C>T 0.504 0.528 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.0703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.23 182 ENSG00000184779 AK097432 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs919417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs919417 rs919417 rs919417 rs151257277 1 1538 255 1.I 0,0,255 +rs1318545 15 82823466 C G - RPS17 10397 Ribosomal protein S17 NM_001021.5 -1 595 408 NP_001012.1 P08708 substitution intron GRCh37 82823466 82823466 Chr15(GRCh37):g.82823466C>G 156-73 156-73 NM_001021.5:c.156-73G>C p.? p.? 3 2 180472 -73 3' 78.3585 6.92111 0.798713 7.79659 78.3585 6.92111 0.798713 VII.66 0 Cryptic Acceptor Weakly Activated 82823452 2.20203 0.001065 64.8652 2.06098 0.001789 67.2749 rs1318545 yes no Frequency 1 0.000000 0 transversion G C G>C 0.079 -0.440 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . -0.5094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.28 182 ENSG00000184779 AK097432 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1318545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs1318545 rs1318545 rs1318545 rs1318545 1 1538 255 1.I 0,0,255 +. (chr15:82905964 C/T) 15 82905964 C T Not on a known gene +. 15 82934070 A G - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution intron GRCh37 82934070 82934070 Chr15(GRCh37):g.82934070A>G 1315-71 1315-71 NM_001322400.1:c.1315-71T>C p.? p.? 7 6 -71 3' 89.4439 8.02486 0.952497 XI.78 89.4439 8.02486 0.952497 XI.15 0 0.002967 0.000000 0.000000 0.000000 0.000000 0.000000 0.005348 0.000000 0.000000 0.005348 2 0 0 0 0 0 2 0 0 674 22 66 2 130 0 374 62 18 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 120 Genomes transition T C T>C 0.827 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.3844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK097432 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0030 0 0 0 0 0.0053 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2019390 rs2019390 rs78831219 rs78831219 1 1538 10 1/0 0,255,255 +. 15 82937259 G A - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution missense exon GRCh37 82937259 82937259 Chr15(GRCh37):g.82937259G>A 176 176 NM_001322400.1:c.176C>T p.Thr59Ile p.Thr59Ile 2 -29 5' 79.968 7.76791 0.455738 7.26669 79.968 7.76791 0.455738 6.85251 0 transition C T C>T 0.035 0.125 T Thr ACT 0.243 I Ile ATT 0.356 59 12 7 Chicken -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 242.23 0.00 Tolerated 0.16 III.32 255 PASS . . . . . . . . . . . ENSG00000215749:ENST00000559949:exon2:c.C176T:p.T59I AK302092:uc010unx.1:exon2:c.C140T:p.T47I . . . 0.36842105 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.5677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK302092 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 . . . . . . . . . . . . . . . ENST00000426571 . . . 0.000000 E7ES67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.159 0.159000 . . 0.000000 . . 1.0E-255 . . . . . . . . . 0.159 . . . . . . 1 1538 10 1/0 0,255,255 +. 15 82937262 G A - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution missense exon GRCh37 82937262 82937262 Chr15(GRCh37):g.82937262G>A 173 173 NM_001322400.1:c.173C>T p.Ala58Val p.Ala58Val 2 -32 5' 79.968 7.76791 0.455738 7.26669 79.968 7.76791 0.455738 6.99786 0 transition C T C>T 0.020 0.125 A Ala GCC 0.403 V Val GTC 0.240 58 12 3 Cat 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 215.31 41.79 Tolerated 0.12 III.15 255 PASS . . . . . . . . . . . ENSG00000215749:ENST00000559949:exon2:c.C173T:p.A58V AK302092:uc010unx.1:exon2:c.C137T:p.A46V . . . 0.42105263 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -1.0380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK302092 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . . . ENST00000426571 . . . 0.060000 E7ES67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.159 0.159000 . . 0.060000 . . 1.0E-255 . . . . . . . . . 0.159 . . rs2277571 rs2277571 rs2277571 rs2277571 1 1538 10 1/0 0,255,255 +. 15 82937263 C A - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution missense exon GRCh37 82937263 82937263 Chr15(GRCh37):g.82937263C>A 172 172 NM_001322400.1:c.172G>T p.Ala58Ser p.Ala58Ser 2 -33 5' 79.968 7.76791 0.455738 7.26669 79.968 7.76791 0.455738 6.91068 0 transversion G T G>T 0.012 -1.247 A Ala GCC 0.403 S Ser TCC 0.220 58 12 3 Cat 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 215.31 IX.71 Tolerated 0.24 III.15 255 PASS . . . . . . . . . . . ENSG00000215749:ENST00000559949:exon2:c.G172T:p.A58S AK302092:uc010unx.1:exon2:c.G136T:p.A46S . . . 0.45 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -1.5083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK302092 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 . . . . . . . . . . . . . . . ENST00000426571 . . . 0.220000 E7ES67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.268 -1.268000 . . 0.220000 . . 1.0E-255 . . . . . . . . . -1.268 . . rs2277570 rs2277570 rs2277570 rs2277570 1 1538 10 1/0 0,255,255 +. 15 82939044 T C - GOLGA6L10 37228 Golgin A6 family-like 10 NM_001322400.1 -1 1743 1611 NP_001309329.1 substitution synonymous exon GRCh37 82939044 82939044 Chr15(GRCh37):g.82939044T>C 54 54 NM_001322400.1:c.54A>G p.Gln18= p.Gln18Gln 1 -31 5' 82.2129 8.37568 0.951569 8.54294 82.2129 8.37568 0.951569 VIII.95 0 transition A G A>G 0.969 -0.198 Q Gln CAA 0.256 Q Gln CAG 0.744 18 227 PASS . . . . . . . . . . . ENSG00000215749:ENST00000559949:exon1:c.A54G:p.Q18Q AK302092:uc010unx.1:exon1:c.A18G:p.Q6Q . . . 0.24 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.2117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000215749 AK302092 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 15 82970362 G C - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution downstream GRCh37 82970362 82970362 Chr15(GRCh37):g.82970362G>C *117 *117 NR_033579.1:n.*117C>G p.? p.? 12 1664 3' 85.132 XII.91 0.988207 X.48 85.132 XII.91 0.988207 X.48 0 transversion C G C>G 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.7627119 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.4954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.6 0.34 182 ENSG00000259328 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs320838 rs320838 rs320838 rs320838 1 1538 10 1/0 0,255,255 +. 15 82970362 G C - GOLGA2P10 26229 Golgin A2 pseudogene 10 NR_033936.3 1 3343 0 substitution intron GRCh37 82970362 82970362 Chr15(GRCh37):g.82970362G>C 523+19 523+19 NR_033936.3:n.523+19G>C p.? p.? 2 2 19 5' 95.6376 X.36 0.995788 14.5161 95.6376 X.36 0.995788 14.4837 0 transversion G C G>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.7627119 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.4954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.6 0.34 182 ENSG00000259328 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs320838 rs320838 rs320838 rs320838 1 1538 10 1/0 0,255,255 +. 15 82972985 C T - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82972985 82972985 Chr15(GRCh37):g.82972985C>T 5221 5221 NR_033579.1:n.5221G>A 10 -2 5' 80.8983 8.18959 0.765782 4.38403 89.8591 9.60237 0.973725 6.61534 0.18494 Cryptic Donor Strongly Activated 82972984 8.18959 0.765782 80.8983 9.60237 0.973725 89.8591 transition G A G>A 0.024 -0.440 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.4707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.57 0.34 182 ENSG00000205275 CSPG4P8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62011816 rs62011816 rs62011816 rs62011816 1 1538 255 1.I 0,0,255 +. 15 82972985 C T - GOLGA2P10 26229 Golgin A2 pseudogene 10 NR_033936.3 1 3343 0 substitution intron GRCh37 82972985 82972985 Chr15(GRCh37):g.82972985C>T 1003+726 1003+726 NR_033936.3:n.1003+726C>T p.? p.? 6 6 726 5' 84.1959 X.66 0.975908 X.86 84.1959 X.66 0.975908 X.86 0 Cryptic Acceptor Strongly Activated 82972994 3.05234 0.014305 71.1029 3.17396 0.025304 73.8148 transition C T C>T 0.024 -0.440 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.4707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.57 0.34 182 ENSG00000205275 CSPG4P8 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs62011816 rs62011816 rs62011816 rs62011816 1 1538 255 1.I 0,0,255 +rs573667 15 82983971 C T - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82983971 82983971 Chr15(GRCh37):g.82983971C>T 2457 2457 NR_033579.1:n.2457G>A 1 -1047 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 Cryptic Donor Strongly Activated 82983975 4.28887 0.021704 73.9912 8.94615 0.944519 84.0719 rs573667 no no 0 C 0.000000 0 transition G A G>A 0.606 0.367 216 PASS . . . . . . . . . . . . . . . . 0.203125 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.3580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs573667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs573667 rs573667 rs573667 rs573667 1 1538 10 1/0 0,255,255 +. 15 82984181 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984181 82984181 Chr15(GRCh37):g.82984181G>A 2247 2247 NR_033579.1:n.2247C>T 1 -1257 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition C T C>T 0.000 -0.198 206 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.58 0.34 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs74426973 rs74426973 1 1538 10 1/0 0,255,255 +. 15 82984393 T C - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984393 82984393 Chr15(GRCh37):g.82984393T>C 2035 2035 NR_033579.1:n.2035A>G 1 -1469 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition A G A>G 0.008 -0.440 222 PASS . . . . . . . . . . . . . . . . 0.21989529 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 191.0 . . . . . . . . . . -0.3322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.54 0.42 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs76773663 rs76773663 1 1538 10 1/0 0,209,255 +. 15 82984592 C T - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984592 82984592 Chr15(GRCh37):g.82984592C>T 1836 1836 NR_033579.1:n.1836G>A 1 -1668 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition G A G>A 0.465 0.932 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . -0.1610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . rs1727688 rs1727688 rs1727688 rs1727688 1 1538 10 1/0 0,238,255 +. 15 82984594 G T - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984594 82984594 Chr15(GRCh37):g.82984594G>T 1834 1834 NR_033579.1:n.1834C>A 1 -1670 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transversion C A C>A 0.386 0.286 198 PASS . . . . . . . . . . . . . . . . 0.15384616 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . -0.1352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.56 0.34 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . rs71408849 rs71408849 rs71408849 1 1538 10 1/0 0,242,255 +. 15 82984699 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984699 82984699 Chr15(GRCh37):g.82984699G>A 1729 1729 NR_033579.1:n.1729C>T 1 -1775 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 Cryptic Acceptor Weakly Activated 82984693 3.75161 0.002739 68.2575 3.72749 0.003578 70.3607 transition C T C>T 0.150 0.690 181 PASS . . . . . . . . . . . . . . . . 0.11494253 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . -0.1644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs76620244 rs76620244 1 1538 10 1/0 0,233,255 +rs62011801 15 82984891 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984891 82984891 Chr15(GRCh37):g.82984891G>A 1537 1537 NR_033579.1:n.1537C>T 1 -1967 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 rs62011801 no no 0 G 0.000000 0 transition C T C>T 0.559 0.044 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.5296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62011801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2563903 rs2563903 rs2563903 rs2563903 1 1538 10 1/0 0,255,255 +. 15 82984926 T C - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82984926 82984926 Chr15(GRCh37):g.82984926T>C 1502 1502 NR_033579.1:n.1502A>G 1 -2002 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition A G A>G 0.102 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.55813956 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 0.0787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.53 0.39 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs469447 rs469447 rs469447 rs469447 1 1538 10 1/0 0,255,255 +. 15 82985094 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82985094 82985094 Chr15(GRCh37):g.82985094G>A 1334 1334 NR_033579.1:n.1334C>T 1 -2170 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition C T C>T 0.008 0.125 226 PASS . . . . . . . . . . . . . . . . 0.23333333 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.2860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.57 0.36 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . rs4248242 rs4248242 rs4248242 rs4248242 1 1538 10 1/0 0,255,255 +. 15 82985153 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82985153 82985153 Chr15(GRCh37):g.82985153G>A 1275 1275 NR_033579.1:n.1275C>T 1 -2229 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition C T C>T 0.000 -0.682 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.2715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs4779026 rs4779026 rs4779026 rs4779026 1 1538 10 1/0 0,255,255 +. 15 82985209 G A - CSPG4P8 48359 Chondroitin sulfate proteoglycan 4 pseudogene 8 NR_033579.1 -1 6806 0 substitution exon GRCh37 82985209 82985209 Chr15(GRCh37):g.82985209G>A 1219 1219 NR_033579.1:n.1219C>T 1 -2285 5' 87.5642 8.40856 0.955765 X.96 87.5642 8.40856 0.955765 X.96 0 transition C T C>T 0.992 -0.117 190 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . 0.0530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.56 0.38 182 ENSG00000205275 CSPG4P8 GOLGA6L17P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs468815 rs468815 rs468815 rs468815 1 1538 10 1/0 0,255,255 +. (chr15:83013031 A/G) 15 83013031 A G Not on a known gene +. (chr15:83015341 C/T) 15 83015341 C T Not on a known gene +rs748684363 (chr15:83016263 G/A) 15 83016263 G A Not on a known gene +rs756728826 (chr15:83016264 C/A) 15 83016264 C A Not on a known gene +. (chr15:83018045 T/C) 15 83018045 T C Not on a known gene +. (chr15:83098842 C/T) 15 83098842 C T Not on a known gene +. (chr15:83101182 G/T) 15 83101182 G T Not on a known gene +. (chr15:83101511 T/C) 15 83101511 T C Not on a known gene +. (chr15:83101702 G/A) 15 83101702 G A Not on a known gene +. (chr15:83102285 C/T) 15 83102285 C T Not on a known gene +. (chr15:83102991 G/A) 15 83102991 G A Not on a known gene +. (chr15:83102992 T/C) 15 83102992 T C Not on a known gene +. (chr15:83103094 A/G) 15 83103094 A G Not on a known gene +. (chr15:83103584 C/T) 15 83103584 C T Not on a known gene +. (chr15:83104757 G/T) 15 83104757 G T Not on a known gene +. (chr15:83131252 C/T) 15 83131252 C T Not on a known gene +. (chr15:83131308 C/T) 15 83131308 C T Not on a known gene +. (chr15:83131367 C/T) 15 83131367 C T Not on a known gene +. (chr15:83131535 A/G) 15 83131535 A G Not on a known gene +. (chr15:83131570 C/T) 15 83131570 C T Not on a known gene +. (chr15:83131717 G/A) 15 83131717 G A Not on a known gene +. (chr15:83131762 C/T) 15 83131762 C T Not on a known gene +. (chr15:83131867 C/A) 15 83131867 C A Not on a known gene +. (chr15:83132068 A/G) 15 83132068 A G Not on a known gene +. (chr15:83132280 C/T) 15 83132280 C T Not on a known gene +. (chr15:83132490 G/A) 15 83132490 G A Not on a known gene +. (chr15:83143477 G/A) 15 83143477 G A Not on a known gene +. (chr15:83146100 C/G) 15 83146100 C G Not on a known gene +. (chr15:83190428 C/T) 15 83190428 C T Not on a known gene +. (chr15:83191153 A/G) 15 83191153 A G Not on a known gene +. (chr15:83194838 G/T) 15 83194838 G T Not on a known gene +. (chr15:83206751 C/G) 15 83206751 C G Not on a known gene +. (chr15:83207733 A/G) 15 83207733 A G Not on a known gene +. (chr15:83207766 G/A) 15 83207766 G A Not on a known gene +. (chr15:83207809 C/G) 15 83207809 C G Not on a known gene +rs151111553 15 84773393 G A - EFTUD1P1 31739 Elongation factor Tu GTP binding domain containing 1 pseudogene 1 NR_036652.1 1 1167 0 substitution intron GRCh37 84773393 84773393 Chr15(GRCh37):g.84773393G>A 527+2477 527+2477 NR_036652.1:n.527+2477G>A p.? p.? 5 5 2477 5' 82.5885 9.42864 0.928886 6.16118 82.5885 9.42864 0.928886 6.16118 0 Cryptic Acceptor Strongly Activated 84773400 0.131394 5.14886 0.136731 71.5017 rs151111553 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.001000 0.000000 0.008900 0.002900 0.004845 0.001031 0.005967 0.000000 0.000000 0.000000 0.007334 0.006873 0.002037 0.007334 150 9 5 0 0 0 110 24 2 30958 8726 838 302 1620 0 14998 3492 982 0.013333 0.000000 0.000000 0.000000 0.000000 0.000000 0.018182 0.000000 0.000000 2 0 0 0 0 0 2 0 0 146 9 5 0 0 0 106 24 2 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition G A G>A 1.000 5.209 255 PASS . 0.0046 0.0028 . 0.01 0.0008 0.0026 0.0029 . 0.0089 0.001 . . . . . 0.45 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||EFTUD1P1|Non-coding_transcript|NON_CODING|NR_036652|) . . . . . . . I.97 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . 0.0026 . . . 0.71 0.58 182 ENSG00000259404 EFTUD1P1 EFTUD1P1 . . . . . . 256 0.00393992 64976 243 0.00405095 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151111553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.89 . . . . . . . . . 0.0010 0.0048 0.0060 0 0 0.0069 0.0073 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151111553 rs151111553 1 1538 10 1/0 0,255,255 +. 15 84870926 C T - GOLGA2P7 49516 Golgin A2 pseudogene 7 NR_027001.1 -1 3356 0 substitution intron GRCh37 84870926 84870926 Chr15(GRCh37):g.84870926C>T 995+696 995+696 NR_027001.1:n.995+696G>A p.? p.? 6 6 696 5' 84.1959 X.66 0.975908 X.88 84.1959 X.66 0.975908 X.88 0 transition G A G>A 0.354 0.125 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.1785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.62 0.35 182 ENSG00000225151 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs76131597 rs76131597 1 1538 10 1/0 0,250,255 +. 15 84870940 T C - GOLGA2P7 49516 Golgin A2 pseudogene 7 NR_027001.1 -1 3356 0 substitution intron GRCh37 84870940 84870940 Chr15(GRCh37):g.84870940T>C 995+682 995+682 NR_027001.1:n.995+682A>G p.? p.? 6 6 682 5' 84.1959 X.66 0.975908 X.88 84.1959 X.66 0.975908 X.88 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.346 0.125 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.1783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.3 182 ENSG00000225151 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76661747 rs76661747 1 1538 10 1/0 0,255,255 +. 15 84906279 A T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution intron GRCh37 84906279 84906279 Chr15(GRCh37):g.84906279A>T 85-59 85-59 NM_001267536.2:c.85-59A>T p.? p.? 2 1 -59 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.56677 0 New Donor Site 84906277 3.20328 0.281612 73.0988 transversion A T A>T 0.098 0.125 203 PASS . . . . . . . . . . . . . . . . 0.16867469 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||GOLGA6L4|mRNA|CODING|NM_001267536|) . . . . . . . -0.2681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 15 84906374 C T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution missense exon GRCh37 84906374 84906374 Chr15(GRCh37):g.84906374C>T 121 121 NM_001267536.2:c.121C>T p.Pro41Ser p.Pro41Ser 2 37 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.17977 0 transition C T C>T 0.012 0.125 P Pro CCA 0.274 S Ser TCA 0.148 41 12 6 Frog -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.61 II.98 193 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon2:c.C121T:p.P41S GOLGA6L4:NM_001267536:exon2:c.C121T:p.P41S . . 0.14285715 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.155 . @ . . . . . 1 0.170 . . 70.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P41S|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.2) . . . . . . . -0.8223 -1.066 -0.822 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.139 . . 0.356 . . . 0.549 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.921 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.614 . . . . . . . 0.160 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.390000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.107 0.107000 . . 0.390000 . . 1.0E-193 0.002 0.151 . 0.062 0.529 . 0.210 . 0.267 0.107 0.542 . rs1267670 rs1267670 rs1267670 rs1267670 1 1538 10 1/0 0,245,255 +. 15 84906425 G T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution missense exon GRCh37 84906425 84906425 Chr15(GRCh37):g.84906425G>T 172 172 NM_001267536.2:c.172G>T p.Ala58Ser p.Ala58Ser 2 -33 5' 79.968 7.76791 0.455738 7.76816 79.968 7.76791 0.455738 7.41215 0 transversion G T G>T 0.035 0.125 A Ala GCC 0.403 S Ser TCC 0.220 58 12 5 Fugu 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Tolerated 0.37 II.98 208 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon2:c.G172T:p.A58S GOLGA6L4:NM_001267536:exon2:c.G172T:p.A58S . . 0.18181819 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.132 . @ . . . . . 1 0.268 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A58S|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.2) . . . . . . . -0.8283 -1.083 -0.828 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.081 . . exonic exonic exonic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.095 . . 0.339 . . . 0.419 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.471 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.398 . . . . . . . 0.039 . HET 0.03 . . . . . . . . . . . . . . . . . . . 0.080000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.107 0.107000 . . 0.080000 . . 9.999999999999999E-209 0.154 0.235 . 0.095 0.458 . 0.058 . 0.025 0.107 -0.628 . . . . . 1 1538 10 1/0 0,255,255 +. 15 84906426 C T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution missense exon GRCh37 84906426 84906426 Chr15(GRCh37):g.84906426C>T 173 173 NM_001267536.2:c.173C>T p.Ala58Val p.Ala58Val 2 -32 5' 79.968 7.76791 0.455738 7.76816 79.968 7.76791 0.455738 7.49933 0 transition C T C>T 0.039 0.125 A Ala GCC 0.403 V Val GTC 0.240 58 12 5 Fugu 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.2 II.98 214 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon2:c.C173T:p.A58V GOLGA6L4:NM_001267536:exon2:c.C173T:p.A58V . . 0.2 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.206 . @ . . . . . 1 0.473 . . 45.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A58V|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.2) . . . . . . . -0.7325 -0.985 -0.732 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.117 . . exonic exonic exonic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.152 . . 0.282 . . . 0.708 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.477 . . . . . . . 0.037 . HET 0.02 . . . . . . . . . . . . . . . . . . . 0.020000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.107 0.107000 . . 0.020000 . . 1.0E-214 0.136 0.232 . 0.100 0.453 . 0.382 . 0.267 0.107 0.542 . . . . . 1 1538 10 1/0 0,255,255 +. 15 84906429 C T - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution missense exon GRCh37 84906429 84906429 Chr15(GRCh37):g.84906429C>T 176 176 NM_001267536.2:c.176C>T p.Thr59Ile p.Thr59Ile 2 -29 5' 79.968 7.76791 0.455738 7.76816 79.968 7.76791 0.455738 7.35398 0 transition C T C>T 0.043 0.125 T Thr ACT 0.243 I Ile ATT 0.356 59 12 3 Macaque -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.17 II.98 219 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon2:c.C176T:p.T59I GOLGA6L4:NM_001267536:exon2:c.C176T:p.T59I . . 0.21428572 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.463 . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T59I|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.2) . . . . . . . -0.7260 -0.979 -0.726 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.178 . . exonic exonic exonic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.008 0.001 . . 37 . 0.191 . . 0.265 . . . 0.606 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.800 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.393 . . . . . . . 0.174 . HET 0.02 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.107 0.107000 . . 0.000000 . . 1.0E-219 0.006 0.172 . 0.114 0.463 . 0.382 . 0.267 0.107 0.542 . . . . . 1 1538 10 1/0 0,255,255 +. 15 84907061 G A - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution intron GRCh37 84907061 84907061 Chr15(GRCh37):g.84907061G>A 205-19 205-19 NM_001267536.2:c.205-19G>A p.? p.? 3 2 -19 3' 84.5337 9.46271 0.847172 8.91466 84.5337 9.16302 0.887905 8.72936 0.00547014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 7691 Exomes transition G A G>A 0.016 0.125 182 PASS . . . . . . . . . . . . . . . . 0.116161615 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 198.0 . . INTRON(MODIFIER||||GOLGA6L4|mRNA|CODING|NM_001267536|) . . . . . . . -0.4348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,198,255 +. 15 84907103 G A - GOLGA6L4 27256 Golgin A6 family-like 4 NM_001267536.2 1 4563 1725 NP_001254465.2 A6NEF3 substitution synonymous exon GRCh37 84907103 84907103 Chr15(GRCh37):g.84907103G>A 228 228 NM_001267536.2:c.228G>A p.Glu76= p.Glu76Glu 3 24 3' 84.5337 9.46271 0.847172 8.91466 84.5337 9.46271 0.847172 8.83401 0 transition G A G>A 0.004 -1.651 E Glu GAG 0.583 E Glu GAA 0.417 76 204 PASS . . . . . . . . . . . . GOLGA6L4:uc021stn.2:exon3:c.G228A:p.E76E GOLGA6L4:NM_001267536:exon3:c.G228A:p.E76E . . 0.16860466 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 172.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E76|GOLGA6L4|mRNA|CODING|NM_001267536|NM_001267536.ex.3) . . . . . . . -0.7628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.26 182 ENSG00000184206 GOLGA6L4 GOLGA6L4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs78810229 rs111971670 1 1538 10 1/0 0,209,255 +. (chr15:84958830 T/C) 15 84958830 T C No Alamut gene - other known genes: CSPG4P5 CSPG4P5 +. (chr15:84959136 G/A) 15 84959136 G A No Alamut gene - other known genes: CSPG4P5 CSPG4P5 +. (chr15:84959181 C/T) 15 84959181 C T No Alamut gene - other known genes: CSPG4P5 CSPG4P5 +. (chr15:84962608 G/A) 15 84962608 G A No Alamut gene - other known genes: CSPG4P5 CSPG4P5 +. 15 85057500 C T - GOLGA6L5P 30472 Golgin A6 family-like 5, pseudogene NR_003246.2 -1 7309 0 substitution exon GRCh37 85057500 85057500 Chr15(GRCh37):g.85057500C>T 290 290 NR_003246.2:n.290G>A 3 24 3' 84.5337 9.46271 0.847172 8.91466 84.5337 9.46271 0.847172 8.83401 0 transition G A G>A 0.000 0.448 195 PASS . . . . . . . . . . . . . . . . 0.14563107 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 206.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R97K|GOLGA6L5P|Non-coding_transcript|NON_CODING|NR_003246|NR_003246.ex.3) . . . . . . . -0.3044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.62 0.36 182 . GOLGA6L5 GOLGA6L5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs78810229 rs111971670 1 1538 10 1/0 0,199,255 +. 15 85058229 G A - GOLGA6L5P 30472 Golgin A6 family-like 5, pseudogene NR_003246.2 -1 7309 0 substitution exon GRCh37 85058229 85058229 Chr15(GRCh37):g.85058229G>A 183 183 NR_003246.2:n.183C>T 2 37 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.17977 0 transition C T C>T 0.004 0.528 227 PASS . . . . . . . . . . . . . . . . 0.23809524 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F61|GOLGA6L5P|Non-coding_transcript|NON_CODING|NR_003246|NR_003246.ex.2) . . . . . . . -0.2271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.31 182 . GOLGA6L5 GOLGA6L5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs1267670 rs1267670 rs1267670 rs1267670 1 1538 10 1/0 0,255,255 +. 15 85058324 T A - GOLGA6L5P 30472 Golgin A6 family-like 5, pseudogene NR_003246.2 -1 7309 0 substitution intron GRCh37 85058324 85058324 Chr15(GRCh37):g.85058324T>A 147-59 147-59 NR_003246.2:n.147-59A>T p.? p.? 2 1 -59 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.56677 0 New Donor Site 85058326 3.20328 0.281612 73.0988 transversion A T A>T 0.024 0.125 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||GOLGA6L5P|Non-coding_transcript|NON_CODING|NR_003246|) . . . . . . . -0.3847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . GOLGA6L5 GOLGA6L5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17215940 15 85448921 A G - SLC28A1 11001 Solute carrier family 28 member 1 NM_001287762.1 1 2653 1950 NP_001274691.1 O00337 substitution intron GRCh37 85448921 85448921 Chr15(GRCh37):g.85448921A>G 717+38 717+38 NM_001287762.1:c.717+38A>G p.? p.? 7 7 606207 38 5' 80.9586 8.53199 0.986771 7.56503 80.9586 8.53199 0.986771 8.20059 0 rs17215940 yes no Frequency/1000G 2 A 0.000000 0 0.002196 0.000000 0.000000 0.000000 0.008900 0.002900 0.004396 0.000680 0.004023 0.018191 0.000000 0.001217 0.005497 0.003953 0.006589 0.018191 1201 16 137 183 0 37 686 100 42 273186 23514 34050 10060 18700 30398 124790 25300 6374 0.000059 0.000000 0.000000 0.000795 0.000000 0.000000 0.000032 0.000079 0.000314 8 0 0 4 0 0 2 1 1 1185 16 137 175 0 37 682 98 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8557 4405 12962 41 1 42 0.00476855 0.000226963 0.00322978 0.00476855 0.000226963 0.00322978 45 transition A G A>G 0.000 0.448 255 PASS . 0.0027 0.0028 . 0.01 . 0.0022 0.0029 . 0.0089 . . . . . . 0.45 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 100.0 . . . 0.0002 0.0032 0.0048 0.0002 0.0032 0.0048 . -0.1276 . . . . . . . . 4.215e-03 . . . 0.0005 0.0044 0.0044 0 0.0055 0.0069 0.0059 0.0016 0.0006 0.0044 0.0043 0 0.0052 0.0063 0.0094 0.0016 . . . . . . intronic intronic intronic . . . 0.0022 . . . 0.11 0.27 182 ENSG00000156222 SLC28A1 SLC28A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs17215940 . . . . . . . . . . . . . . . . . . . . . . . 0.003230 . . . . . 0.0007 0.0043 0.0039 0.0182 0 0.0041 0.0051 0.0072 0.0012 0.0007 0.0050 0.0072 0.0166 0 0.0032 0.0082 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs17215940 rs17215940 rs17215940 rs17215940 1 1538 10 1/0 0,255,255 +. (chr15:85737720 C/T) 15 85737720 C T Not on a known gene +. (chr15:85737776 C/T) 15 85737776 C T Not on a known gene +. (chr15:85737835 C/T) 15 85737835 C T Not on a known gene +. (chr15:85738038 C/T) 15 85738038 C T Not on a known gene +rs2259324 (chr15:85738039 A/G) 15 85738039 A G Not on a known gene +. (chr15:85738230 C/T) 15 85738230 C T Not on a known gene +. (chr15:85738335 C/A) 15 85738335 C A Not on a known gene +. (chr15:85738337 G/A) 15 85738337 G A Not on a known gene +. (chr15:85738344 C/G) 15 85738344 C G Not on a known gene +. (chr15:85738536 A/G) 15 85738536 A G Not on a known gene +. (chr15:85738871 C/T) 15 85738871 C T Not on a known gene +. (chr15:85738958 G/A) 15 85738958 G A Not on a known gene +rs225232 (chr15:85752579 A/C) 15 85752579 A C Not on a known gene +. 15 85785392 A T - GOLGA6L3 37441 Golgin A6 family-like 3 NM_001310153.1 1 1672 1593 NP_001297082.1 substitution intron GRCh37 85785392 85785392 Chr15(GRCh37):g.85785392A>T 85-59 85-59 NM_001310153.1:c.85-59A>T p.? p.? 2 1 -59 3' 84.9114 XI.94 0.992508 9.33383 84.9114 XI.94 0.992508 9.56677 0 New Donor Site 85785390 3.20328 0.281612 73.0988 0.000461 0.000978 0.004054 0.000000 0.001346 0.000000 0.000000 0.000000 0.000000 0.004054 13 8 3 0 2 0 0 0 0 28202 8176 740 222 1486 0 13350 3360 868 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 8 3 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion A T A>T 0.000 -14.080 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . INTRON(MODIFIER||||GOLGA6L3|mRNA|CODING|NM_001310153|) . . . . . . . -0.2392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000188388 GOLGA6L4 GOLGA6L3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0005 0.0041 0 0.0013 0 0 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 15 85786216 G A - GOLGA6L3 37441 Golgin A6 family-like 3 NM_001310153.1 1 1672 1593 NP_001297082.1 substitution synonymous exon GRCh37 85786216 85786216 Chr15(GRCh37):g.85786216G>A 228 228 NM_001310153.1:c.228G>A p.Glu76= p.Glu76Glu 3 24 3' 84.5337 9.46271 0.847172 8.68576 84.5337 9.46271 0.847172 8.60511 0 0.000311 0.005352 0.000251 0.000185 0.000000 0.000000 0.000318 0.000000 0.000000 0.005352 24 7 2 1 0 0 14 0 0 77248 1308 7962 5392 670 8598 44026 6782 2510 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 7 2 1 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -14.080 E Glu GAG 0.583 E Glu GAA 0.417 76 205 PASS . . . . . . . . . . . . GOLGA6L4:uc010upj.1:exon3:c.G192A:p.E64E GOLGA6L3:NM_001310153:exon3:c.G228A:p.E76E . . 0.17391305 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 46.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E76|GOLGA6L3|mRNA|CODING|NM_001310153|NM_001310153.ex.3) . . . . . . . -0.3404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.59 0.42 182 ENSG00000188388 GOLGA6L4 GOLGA6L3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0128 0.0025 0.0104 0.0081 0 0 0.0022 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs78810229 rs78810229 1 1538 10 1/0 0,255,255 +. 15 86768264 C CTT - AGBL1 26504 ATP/GTP binding protein-like 1 NM_152336.3 1 3716 3339 NP_689549.3 duplication intron GRCh37 86768279 86768280 Chr15(GRCh37):g.86768278_86768279dup 526+96 526+97 NM_152336.3:c.526+96_526+97dup p.? p.? 6 6 615496 97 5' 73.1712 5.34377 0.964609 1.65074 73.1712 5.34377 0.964609 1.65074 0 0.001547 0.000402 0.008511 0.004065 0.000669 0.000000 0.001372 0.007563 0.003058 0.008511 37 3 4 1 1 0 17 9 2 23916 7468 470 246 1494 0 12394 1190 654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.19178082 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 73 . . INTRON(MODIFIER||||AGBL1|mRNA|CODING|NM_152336|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000166748 AGBL1 AGBL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0015 0.0085 0.0041 0.0007 0.0076 0.0014 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,72 +rs149477284 15 86790997 G A - AGBL1 26504 ATP/GTP binding protein-like 1 NM_152336.3 1 3716 3339 NP_689549.3 substitution missense exon GRCh37 86790997 86790997 Chr15(GRCh37):g.86790997G>A 622 622 NM_152336.3:c.622G>A p.Val208Met p.Val208Met 7 615496 96 3' 89.3131 11.1799 0.980453 16.8248 89.3131 11.1799 0.980453 16.8248 0 Armadillo-type fold rs149477284 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.000000 0.000000 0.011900 0.002900 0.006208 0.002248 0.003400 0.004440 0.000053 0.001235 0.010799 0.002406 0.005731 0.010799 1718 54 117 45 1 38 1364 62 37 276722 24018 34408 10136 18852 30768 126312 25772 6456 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 6 0 0 0 0 0 6 0 0 1706 54 117 45 1 38 1352 62 37 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8421 4312 12733 103 12 115 0.0120835 0.00277521 0.00895081 0.0120835 0.00277521 0.00895081 38 transition G A G>A 0.921 0.770 V Val GTG 0.468 M Met ATG 1.000 208 12 6 Zebrafish 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.07 III.33 255 PASS . 0.0046 0.0028 . 0.01 . 0.0028 0.0029 . 0.012 . . AGBL1:uc002blz.1:exon6:c.G484A:p.V162M AGBL1:NM_152336:exon6:c.G484A:p.V162M . . 0.5585586 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.113 . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V162M|AGBL1|mRNA|CODING|NM_152336|NM_152336.ex.6) 0.0028 0.009 0.012 0.0028 0.009 0.012 . -0.9711 -0.999 -0.971 c . . . . . 6.137e-03 . . . 0.0027 0.0058 0.0031 0 0.0011 0.0102 0.0059 0.0013 0.0027 0.0058 0.0029 0 0.0018 0.0096 0.0029 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.338 . . exonic exonic exonic . . 0.244 0.0028 . . . 0.29 0.5 182 ENSG00000166748 AGBL1 AGBL1 . . . 1.000 0.747 . 388 0.00597144 64976 374 0.00623479 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.102 . . 0.256 . . . 0.159 0.205 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.127 . . 0 0 0 0 0 0 . 0.392 . . 0.208 . . . . . . 0 0.033 . . . . . 0.136 . 0.077 . HET 0.84 rs149477284 0.022 0.014 . . . . . 0.004578754578754579 0.0 0.0027624309392265192 0.0 0.011873350923482849 5.0261 0.002466 . V.16 I.86 . 0.970000 Q96MI9 . . . 0.008951 . 0.200 . . . 0.0022 0.0061 0.0034 0.0044 5.803e-05 0.0021 0.0107 0.0049 0.0012 0.0024 0.0074 0.0024 0.0066 0 0.0046 0.0119 0.0102 . . 0.133 . 0.575 0.575000 . . 0.970000 . . 1.0E-255 0.108 0.227 . 0.100 0.004 . 0.241 . 0.211 0.575 0.069 0.022 . . rs149477284 rs149477284 1 1538 10 1/0 0,255,255 +. 15 89015823 GACA G - MRPS11 14050 Mitochondrial ribosomal protein S11 NM_022839.4 1 3638 585 NP_073750.2 P82912 deletion intron GRCh37 89015825 89015827 Chr15(GRCh37):g.89015825_89015827del 183-33 183-31 NM_022839.4:c.183-33_183-31del p.? p.? 3 2 611977 -31 3' 87.8432 VII.73 0.224145 4.88801 87.8432 VII.73 0.224145 5.64162 0 rs147841351 yes no Frequency/1000G 2 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.004625 0.001067 0.002291 0.001219 0.000000 0.002881 0.005672 0.012306 0.006063 0.012306 1239 25 77 12 0 85 687 315 38 267864 23424 33606 9844 18502 29506 121116 25598 6268 0.000060 0.000000 0.000000 0.000000 0.000000 0.000068 0.000050 0.000313 0.000000 8 0 0 0 0 1 3 4 0 1223 25 77 12 0 83 681 307 38 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8172 4247 12419 82 13 95 0.00993458 0.00305164 0.0075915 0.00993458 0.00305164 0.0075915 19 CAA 255 Pass . . . . . . 0.0012 0.0029 . 0.004 . . . . . . 0.4054054 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . 0.0031 0.0074 0.0097 0.0031 0.0076 0.0099 . . . . . . . . . . 4.287e-03 . . . 0.0013 0.0046 0.0020 0 0.0152 0.0062 0.0050 0.0033 0.0012 0.0049 0.0020 0 0.0139 0.0059 0.0087 0.0033 . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000173867 MRPS11 MRPS11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147841351 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833085 0.007430 . . . . . 0.0010 0.0046 0.0023 0.0012 0 0.0124 0.0057 0.0061 0.0029 0.0013 0.0047 0.0036 0.0033 0 0.0114 0.0056 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0097 . . rs147841351 rs147841351 1 1538 10 1.I 0,12,39 +rs11633157 15 89398939 C T - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution synonymous exon GRCh37 89398939 89398939 Chr15(GRCh37):g.89398939C>T 3123 3123 NM_013227.3:c.3123C>T p.Thr1041= p.Thr1041Thr 12 155760 857 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs11633157 yes no Frequency/1000G 2 T 0.000000 0 0.070288 0.206500 0.046000 0.001000 0.012900 0.028800 transition C T C>T 0.000 -1.086 T Thr ACC 0.361 T Thr ACT 0.243 1041 255 PASS . . . . . 0.21 0.07 0.029 0.001 0.013 0.046 . . . . . 0.5168539 . . @ 46 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . -0.0957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0703 . . . 0.23 0.35 182 ENSG00000157766 ACAN ACAN . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11633157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11633157 rs11633157 rs11633157 rs11633157 1 1538 10 1/0 0,255,255 +rs77709198 15 89399053 C T - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution synonymous exon GRCh37 89399053 89399053 Chr15(GRCh37):g.89399053C>T 3237 3237 NM_013227.3:c.3237C>T p.Thr1079= p.Thr1079Thr 12 155760 971 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs77709198 yes no Frequency/1000G 2 T 0.000000 0 0.092652 0.155100 0.083800 0.053600 0.080500 0.060500 0.000658 0.001188 0.000169 0.000000 0.000130 0.000559 0.000825 0.010256 0.000000 0.010256 32 4 2 0 1 3 14 8 0 48666 3366 11862 1230 7668 5366 16978 780 1416 0.156250 0.250000 0.000000 0.000000 0.000000 0.000000 0.142857 0.250000 0.000000 5 1 0 0 0 0 2 2 0 22 2 2 0 1 3 10 4 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes COSM4128541 Thyroid 0.001339 747 transition C T C>T 0.000 -1.247 T Thr ACC 0.361 T Thr ACT 0.243 1079 255 PASS . . . . . 0.16 0.093 0.06 0.054 0.081 0.084 . . . . . 0.4651163 . . @ 20 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.1819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0927 . . . 0.19 0.34 182 ENSG00000157766 ACAN ACAN . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77709198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0007 0.0002 0 0.0001 0.0103 0.0008 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77709198 rs77709198 1 1538 10 1/0 0,255,255 +rs113457214 15 89399510 G A - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution missense exon GRCh37 89399510 89399510 Chr15(GRCh37):g.89399510G>A 3694 3694 NM_013227.3:c.3694G>A p.Ala1232Thr p.Ala1232Thr 12 155760 1428 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs113457214 yes no Frequency 1 0.000000 0 0.000158 0.002628 0.000137 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002628 5 4 1 0 0 0 0 0 0 31648 1522 7300 818 4608 3058 12766 632 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 150 Exomes transition G A G>A 0.000 -2.135 A Ala GCT 0.263 T Thr ACT 0.243 1232 8 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 195 PASS . . . . . . . . . . . . . . . . 0.14678898 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.078 . . 109.0 . . . . . . . . . . -2.5318 -2.537 -2.532 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.940 . . exonic exonic exonic . . 0.019 @ . . . 0.42 0.33 182 ENSG00000157766 ACAN ACAN . . . 0.867 0.253 . . . . . . . Uncertain_significance . 0 . 0.135 . . . . D 0.791 0.112 . . 37 . 0.716 . . 0.667 . . . 0.024 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.128 . . . . . 0.028 . 0.020 . LowAF 0.1 rs113457214 . . . . . . . . . . . . I.07 . . 3.IX -6.11 . 0.370000 . . . . . . 0.012 . . . 0.0026 0.0002 0.0001 0 0 0 0 0 0 . . . . . . . . . . 0.283 . -1.070 -1.070000 . . 0.370000 . . 9.999999999999999E-196 0.000 0.063 . 0.090 0.001 . 0.038 . 0.000 -1.070 -0.488 . . . rs199903498 rs199903498 1 1538 10 1/0 0,226,255 +rs202231802 15 89399852 G A - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution missense exon GRCh37 89399852 89399852 Chr15(GRCh37):g.89399852G>A 4036 4036 NM_013227.3:c.4036G>A p.Ala1346Thr p.Ala1346Thr 12 155760 1770 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs202231802 yes no Frequency 1 0.000000 0 COSM6431293 Thyroid 0.001339 747 transition G A G>A 0.000 -0.844 A Ala GCT 0.263 T Thr ACT 0.243 1346 8 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.21 IV.32 unknown 0.0 0.0 172 PASS . . . . . . . . . . . . . . . . 0.11610487 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.065 . . 267.0 . . . . . . . . . . -1.5462 -1.627 -1.546 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.944 . . exonic exonic exonic . . 0.066 @ . . . 0.21 0.27 182 ENSG00000157766 ACAN ACAN . . . 0.012 0.123 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.648 0.051 . . 37 . 0.895 . . 0.764 . . . 0.691 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.063 . . 0 0 0 0 0 0 . 0.135 . . 0.188 . . . . . . 0 0.100 . . . . . 0.165 . 0.012 . LowAF 0.32 rs202231802 . . . . . . . . . . . . V.54 0.167598 . III.45 -2.19 . 0.250000 . . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -0.670 -0.670000 . . 0.250000 . . 1.0E-172 0.000 0.063 . 0.179 0.315 . 0.008 . 0.021 -0.670 -1.558 . . . rs202231802 rs202231802 1 1538 10 1/0 0,185,255 +rs200156631 15 89399909 G A - ACAN 319 Aggrecan NM_013227.3 1 8840 7593 NP_037359.3 substitution missense exon GRCh37 89399909 89399909 Chr15(GRCh37):g.89399909G>A 4093 4093 NM_013227.3:c.4093G>A p.Ala1365Thr p.Ala1365Thr 12 155760 1827 3' 94.7012 XI.94 0.988242 14.8475 94.7012 XI.94 0.988242 14.8475 0 rs200156631 yes no Frequency 1 0.000000 0 0.000007 0.000150 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000150 1 1 0 0 0 0 0 0 0 136204 6646 25194 4990 13988 16928 57690 7520 3248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 46 Exomes transition G A G>A 0.000 -0.521 A Ala GCT 0.263 T Thr ACT 0.243 1365 8 1 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.21 IV.32 unknown 0.0 0.0 213 PASS . . . . . . . . . . . . . . . . 0.19379845 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.078 . . 258.0 . . . . . . . . . . -1.6143 -1.658 -1.614 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.944 . . exonic exonic exonic . . 0.100 @ . . . 0.3 0.3 182 ENSG00000157766 ACAN ACAN . . . 0.006 0.111 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.700 0.067 . . 37 . 0.879 . . 0.732 . . . 0.603 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.064 . . 0 0 0 0 0 0 . 0.156 . . 0.188 . . . . . . 0 0.143 . . . . . 0.140 . 0.022 . HET 0.41 rs200156631 . . . . . . . . . . . . 5.0974 0.021053 . III.54 -0.897 . 0.440000 . . . . . . 0.012 . . . 0.0002 7.342e-06 0 0 0 0 0 0 0 . . . . . . . . . . 0.283 . -0.204 -0.204000 . . 0.440000 . . 1.0E-213 0.000 0.063 . 0.142 0.003 . 0.020 . 0.001 -0.204 -1.771 . . . rs200156631 rs200156631 1 1538 10 1/0 0,194,255 +rs78573781 15 90168736 C T - TICRR 28704 TOPBP1-interacting checkpoint and replication regulator NM_152259.3 1 6670 5733 NP_689472.3 Q7Z2Z1 substitution missense exon GRCh37 90168736 90168736 Chr15(GRCh37):g.90168736C>T 5195 5195 NM_152259.3:c.5195C>T p.Thr1732Met p.Thr1732Met 20 613298 -282 5' 86.7234 X.83 0.99023 4.84316 86.7234 X.83 0.99023 4.84316 0 rs78573781 yes no Frequency/1000G 2 C 0.000000 0 0.007388 0.025700 0.000000 0.000000 0.002000 0.001400 0.001856 0.016867 0.001337 0.000000 0.000000 0.000065 0.000403 0.000039 0.001392 0.016867 514 405 46 0 0 2 51 1 9 276966 24012 34416 10142 18870 30782 126590 25690 6464 0.000014 0.000167 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 510 401 46 0 0 2 51 1 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4306 12896 8 94 102 0.000930449 0.0213636 0.00784736 0.000930449 0.0213636 0.00784736 58 transition C T C>T 0.000 0.125 T Thr ACG 0.116 M Met ATG 1.000 1732 12 6 Dog -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Tolerated 0.05 III.91 good 4.704E-1 0.4484 255 PASS 0.04 0.01 0.0028 . 0.004 0.026 0.0074 0.0014 . 0.002 . . . . . . 0.41221374 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.086 . . 131.0 . . . 0.021 0.0078 0.0009 0.021 0.0078 0.0009 . -1.3798 -1.388 -1.380 c . . . . . 1.942e-03 . . . 0.0198 0.0026 0.0010 0 0 0.0005 0.0014 6.061e-05 0.0203 0.0020 0.0010 0 0 0.0003 0 6.096e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.113 . . exonic exonic exonic . . 0.142 0.0074 . . . 0.44 0.21 182 ENSG00000140534 TICRR TICRR . . . 0.538 0.212 . 51 0.000784905 64976 14 0.000233388 59986 Likely_benign . 0 . 0.059 . . . . . . . . . 37 . 0.018 . . 0.394 . . . 0.543 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.305 . . 0 0 0 0 0 0 . 0.200 . . 0.145 . . . . . . 1 0.256 . . . . . 0.177 . 0.430 . HET 0.05 rs78573781 0.033 0.022 . . . . . 0.011904761904761904 0.044715447154471545 0.0027624309392265192 0.0 0.00395778364116095 V.14 0.020332 ENST00000268138 5.III 0.171 . 0.190000 Q7Z2Z1 . . . 0.007847 . 0.205 . . . 0.0166 0.0014 0.0013 0 0 4.505e-05 0.0004 0.0011 6.497e-05 0.0173 0.0052 0.0012 0 0 0 0.0003 0.0031 . . 0.522 . -0.142 -0.142000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.016 0.072 . 0.158 . 0.003 -0.142 0.008 0.04 . . rs78573781 rs78573781 1 1538 10 1/0 0,242,255 +. 15 90294296 G GCGGGGCTCGGCA - MESP1 29658 Mesoderm posterior 1 homolog (mouse) NM_018670.3 -1 1162 807 NP_061140.1 Q9BRJ9 insertion in-frame exon GRCh37 90294296 90294297 Chr15(GRCh37):g.90294296_90294297insCGGGGCTCGGCA 166 167 NM_018670.3:c.166_167insTGCCGAGCCCCG p.Pro55_Ala56insValProSerPro p.Pro55_Ala56insValProSerPro 1 608689 -557 5' 81.2102 6.09615 0.965227 XI.66 81.2102 6.09615 0.965227 XI.66 0 Cryptic Acceptor Strongly Activated 90294287 0.001751 69.3562 1.01345 0.003194 69.3562 rs3841586 yes no Frequency 1 0.000000 0 0.000233 0.000455 0.000000 0.000000 0.000000 0.001433 0.000184 0.000000 0.001309 0.001433 7 2 0 0 0 1 3 0 1 30042 4392 1802 316 2910 698 16314 2846 764 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 0 1 3 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3275 1077 4352 677 385 1062 0.171306 0.263338 0.196158 0.171306 0.263338 0.196158 2 TGCCGAGCCCCG 255 Pass . . . . . . . . . . . ENSG00000166823:ENST00000300057:exon1:c.166_167insTGCCGAGCCCCG:p.A56delinsVPSPA MESP1:uc002bol.3:exon1:c.166_167insTGCCGAGCCCCG:p.A56delinsVPSPA MESP1:NM_018670:exon1:c.166_167insTGCCGAGCCCCG:p.A56delinsVPSPA . . 0.26190478 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 42 . . CODON_INSERTION(MODERATE||-/TGCCGAGCCCCG|-56CRAP|MESP1|mRNA|CODING|NM_018670|NM_018670.ex.1) 0.27 0.2 0.17 0.26 0.2 0.17 . . . . . . . . . . 2.050e-04 . . . 0 0.0024 0 0 0 0.0010 0 0.0194 0 0.0014 0 0 0 0 0 0.0196 nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000166823 MESP1 MESP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3841586 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv2434n71 0.195773 . . . . . 0 0.0002 0 0 0 0 0.0001 0 0.0014 0.0005 0.0003 0 0 0 0 0.0002 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.27 . . . . 1 1538 10 1.I 0,9,58 +rs143245843 15 90342752 C G - ANPEP 500 Alanyl (membrane) aminopeptidase NM_001150.2 -1 3650 2904 NP_001141.2 P15144 substitution missense exon GRCh37 90342752 90342752 Chr15(GRCh37):g.90342752C>G 1858 1858 NM_001150.2:c.1858G>C p.Val620Leu p.Val620Leu 13 151530 39 3' 78.5006 9.31307 0.891433 9.713 78.5006 9.31307 0.891433 9.86941 0 rs143245843 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.001757 0.000416 0.000552 0.000493 0.000000 0.000260 0.003394 0.000465 0.000464 0.003394 487 10 19 5 0 8 430 12 3 277200 24030 34418 10152 18870 30782 126694 25788 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 487 10 19 5 0 8 430 12 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4398 12968 28 2 30 0.00325657 0.000454545 0.00230805 0.00325657 0.000454545 0.00230805 147 transversion G C G>C 0.984 -0.117 V Val GTC 0.240 L Leu CTC 0.197 620 18 7 C. elegans 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.34 II.92 good 4.777E-1 0.009758 255 PASS . 0.0023 . . 0.01 . 0.0008 . . 0.004 . ENSG00000166825:ENST00000300060:exon13:c.G1858C:p.V620L ANPEP:uc002bop.4:exon13:c.G1858C:p.V620L ANPEP:NM_001150:exon13:c.G1858C:p.V620L . . 0.55737704 . . @ 68 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.164 . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ctc|V620L|ANPEP|mRNA|CODING|NM_001150|NM_001150.ex.13) 0.0005 0.0023 0.0033 0.0005 0.0023 0.0033 . -0.7959 -0.715 -0.796 c . . . . . 1.776e-03 . . . 0.0004 0.0017 0.0005 0 0.0003 0.0033 0 0.0003 0.0003 0.0016 0.0004 0 0.0006 0.0028 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.494 . . exonic exonic exonic . . 0.090 0.0008 . . . 0.38 0.46 182 ENSG00000166825 ANPEP ANPEP . . . 1.000 0.747 . 152 0.00233933 64976 148 0.00246724 59986 Uncertain_significance . 0 . 0.136 . . . . T 0.160 0.006 . . 37 . 0.192 . . 0.307 . . . 0.236 0.309 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.119 . . 0.205 . . . . . . 0 0.051 . . . . . 0.194 . 0.211 . HET 0.83 rs143245843 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 6.1474 5.35E-4 ENST00000300060 V.15 -1.21 . 0.560000 P15144 . . Name\x3ddgv2434n71 0.002308 . 0.305 . . . 0.0004 0.0018 0.0006 0.0005 0 0.0005 0.0035 0.0004 0.0003 0.0005 0.0016 0 0 0 0 0.0029 0.0010 . . 0.730 . -0.088 -0.088000 . . 0.560000 . . 1.0E-255 0.805 0.295 . 0.250 0.719 . 0.118 . 0.185 -0.088 -1.152 0.01 . . rs143245843 rs143245843 1 1538 10 1/0 0,255,255 +rs61761864 15 90764702 C T - SEMA4B 10730 Semaphorin 4B NM_001324031.1 1 3722 2673 NP_001310960.1 substitution synonymous exon GRCh37 90764702 90764702 Chr15(GRCh37):g.90764702C>T 858 858 NM_001324031.1:c.858C>T p.Asn286= p.Asn286Asn 7 617029 -11 5' 78.1606 5.72798 0.198938 9.36638 78.1606 5.72798 0.198938 8.99794 0 Cryptic Acceptor Strongly Activated 90764713 3.74862 0.000258 62.9649 4.46336 0.000814 67.0669 rs61761864 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.000000 0.013300 0.000000 0.007000 0.008600 0.008324 0.001735 0.002902 0.011741 0.000000 0.017707 0.011236 0.001534 0.006700 0.017707 2046 37 88 111 0 492 1241 37 40 245800 21328 30328 9454 16364 27786 110448 24122 5970 0.000163 0.000000 0.000000 0.000000 0.000000 0.000864 0.000109 0.000000 0.000670 20 0 0 0 0 12 6 0 2 2006 37 88 111 0 468 1229 37 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8233 3984 12217 87 6 93 0.0104567 0.00150376 0.00755483 0.0104567 0.00150376 0.00755483 27 transition C T C>T 1.000 1.255 N Asn AAC 0.536 N Asn AAT 0.464 286 255 PASS . 0.0037 0.0028 . 0.01 . 0.0052 0.0086 . 0.007 0.013 . . . . . 0.49056605 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 106.0 . . . 0.0015 0.0076 0.011 0.0015 0.0076 0.011 . II.95 . . . . . . . . 7.587e-03 . . . 0.0034 0.0161 0.0087 0.0005 0.0017 0.0178 0.0061 0.0255 0.0030 0.0163 0.0090 0 0.0031 0.0187 0.0035 0.0254 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0052 . . . 0.46 0.4 182 ENSG00000185033 SEMA4B SEMA4B . . . . . . 474 0.007295 64976 448 0.00746841 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61761864 . . . . . . . . . . . . . . . . . . . . . . . 0.007555 . . . . III.54 0.0020 0.0086 0.0029 0.0118 0 0.0015 0.0112 0.0064 0.0177 0.0014 0.0066 0.0024 0.0099 0 0.0017 0.0115 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs61761864 rs61761864 rs61761864 rs61761864 1 1538 10 1/0 0,254,255 +rs138639808 15 90766777 G A - SEMA4B 10730 Semaphorin 4B NM_001324031.1 1 3722 2673 NP_001310960.1 substitution intron GRCh37 90766777 90766777 Chr15(GRCh37):g.90766777G>A 1021-14 1021-14 NM_001324031.1:c.1021-14G>A p.? p.? 9 8 617029 -14 3' 86.9898 11.1638 0.985719 6.47479 86.9898 X.11 0.98343 7.54492 -0.0208596 rs138639808 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.001000 0.001400 0.000649 0.000218 0.000169 0.000000 0.000000 0.000084 0.001245 0.000171 0.000545 0.001245 155 5 5 0 0 2 136 4 3 238856 22910 29518 6658 17954 23736 109196 23380 5504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 155 5 5 0 0 2 136 4 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8436 4226 12662 8 0 8 0.000947418 0 0.000631413 0.000947418 0 0.000631413 18 transition G A G>A 0.000 -0.198 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0004 0.0014 . 0.001 . . . . . . 0.41666666 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . 0.0133 . . . . . . . . 6.956e-04 . . . 0.0001 0.0006 0.0002 0 0 0.0011 0 0.0001 0.0002 0.0008 0.0002 0 0.0002 0.0014 0 0.0001 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.3 0.14 182 ENSG00000185033 SEMA4B SEMA4B . . . . . . 42 0.000646393 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138639808 . . . . . . . . . . . . . . . . . . . . . . . 0.000631 . . . . . 0.0003 0.0007 0.0002 0 0 0.0002 0.0013 0.0007 8.426e-05 0.0001 0.0005 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs138639808 rs138639808 1 1538 10 1/0 0,255,255 +rs200690226 15 91292772 A G - BLM 1058 Bloom syndrome, RecQ helicase-like NM_000057.3 1 4555 4254 NP_000048.1 P54132 substitution missense exon GRCh37 91292772 91292772 Chr15(GRCh37):g.91292772A>G 274 274 NM_000057.3:c.274A>G p.Asn92Asp p.Asn92Asp 3 604610 176 3' 88.8265 9.65032 0.813871 3.67552 88.8265 9.65032 0.813871 3.67552 0 rs200690226 yes no Frequency/1000G 2 A uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000126 0.000000 0.000116 0.000000 0.000000 0.000000 0.000229 0.000000 0.000309 0.000229 35 0 4 0 0 0 29 0 2 277104 24024 34412 10150 18858 30780 126630 25782 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 0 4 0 0 0 29 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4396 12990 2 0 2 0.000232666 0 0.000153941 0.000232666 0 0.000153941 70 RCV000462198.1|RCV000203080.2 germline|germline|unknown clinical testing|clinical testing|clinical testing VUS|VUS 1|2 Bloom syndrome|not specified transition A G A>G 0.000 0.690 N Asn AAT 0.464 D Asp GAT 0.461 92 12 4 Dog 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Tolerated 0.38 II.97 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.4827586 . . germline 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.058 . Uncertain//\@significance Uncertain_significance RCV000203080.2 not_specified MedGen CN169374 1 0.432 . . 58.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.7847 -0.804 -0.785 c . . . . . 1.421e-04 . . . 0 0.0002 8.66e-05 0 0 0.0003 0 0 0 0.0001 8.925e-05 0 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.502 . . exonic exonic exonic . . 0.359 0.0002 . . . 0.63 0.52 182 ENSG00000197299 BLM BLM . . . 1.000 0.441 . . . . . . . Uncertain_significance . 0 . 0.095 . . . . T 0.377 0.016 . . 37 . 0.346 . . 0.276 . . . 0.562 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.274 . . 0.225 . . . . . . 0 0.242 . . . . . 0.406 . 0.041 . HET 0.64 rs200690226 . . . . CLINSIG\x3dunknown\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000115300.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009 CLINSIG\x3dunknown\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000115300.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009 . . . . . . IX.29 0.0 ENST00000355112 V.64 III.22 . 0.620000 . . . . 0.000154 . 0.171 . . III.22 0 0.0001 8.935e-05 0 0 0 0.0003 0.0004 0 0 6.457e-05 0.0012 0 0 0 6.66e-05 0 . . 0.730 . 0.357 0.357000 . . 0.620000 . . 1.0E-255 0.001 0.137 . 0.174 0.029 . 0.303 . 0.243 0.357 0.075 0.0002 . . rs200690226 rs200690226 1 1538 10 1/0 0,255,255 +rs146013879 15 91310214 A G - BLM 1058 Bloom syndrome, RecQ helicase-like NM_000057.3 1 4555 4254 NP_000048.1 P54132 substitution synonymous exon GRCh37 91310214 91310214 Chr15(GRCh37):g.91310214A>G 2268 2268 NM_000057.3:c.2268A>G p.Lys756= p.Lys756Lys 10 604610 -40 5' 79.6441 7.80624 0.93931 0 79.6441 7.80624 0.93931 0 0 DNA/RNA helicase, DEAD/DEAH box type, N-terminal DEAD-like helicase DNA helicase, ATP-dependent, RecQ type rs146013879 yes no Frequency/1000G 2 A 0.000000 0 0.001797 0.000000 0.005100 0.000000 0.003000 0.001400 0.001746 0.000333 0.000817 0.004640 0.000053 0.002681 0.002421 0.000039 0.001550 0.004640 482 8 28 47 1 81 306 1 10 276028 24000 34290 10130 18796 30212 126370 25778 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 482 8 28 47 1 81 306 1 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4393 12942 15 1 16 0.00175152 0.000227583 0.00123476 0.00175152 0.000227583 0.00123476 56 RCV000226761.3|RCV000123846.3 germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|Conflicting interpretations of pathogenicity 1|1 Bloom syndrome|not specified COSM5019285 Soft tissue 0.001748 572 transition A G A>G 0.992 0.205 K Lys AAA 0.425 K Lys AAG 0.575 756 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0018 0.0014 . 0.003 0.0051 . . . . . 0.6315789 . . germline 12 . . 1.2.2016 0 0 0 0 1 0 1 1 0 0 0 0 . . . . . . . . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity other|other RCV000123846.3|RCV000226761.2 not_specified|Bloom_syndrome MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0005859:210900:ORPHA125:4434006 2 . . . 19.0 . . . 0.0002 0.0012 0.0018 0.0002 0.0012 0.0018 . 1.0954 . . . . . . . . 1.958e-03 . . . 9.96e-05 0.0020 0.0012 0.0002 0 0.0027 0.0057 0.0028 0.0001 0.0019 0.0012 0.0001 0 0.0025 0.0014 0.0028 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.68 0.5 182 ENSG00000197299 BLM BLM . . . . . . 157 0.00241628 64976 148 0.00246724 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146013879 . . . . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000123846.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dHereditary_cancer-predisposing_syndrome\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000123846.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0027672:699346009 . . . . . . . . . . . . . . . . . 0.001235 . . . . . 0.0003 0.0019 0.0008 0.0048 5.823e-05 4.487e-05 0.0026 0.0018 0.0027 0.0005 0.0008 0 0 0 0 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs146013879 rs146013879 1 1538 10 1/0 0,255,255 +rs150925934 15 91423337 C T - FURIN 8568 Furin (paired basic amino acid cleaving enzyme) NM_001289823.1 1 4191 2385 NP_001276752.1 P09958 substitution missense exon GRCh37 91423337 91423337 Chr15(GRCh37):g.91423337C>T 1390 1390 NM_001289823.1:c.1390C>T p.Arg464Trp p.Arg464Trp 13 136950 14 3' 79.7977 8.0187 0.556945 11.1362 79.7977 8.0187 0.542697 X.92 -0.00852747 rs150925934 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.002000 0.003000 0.001400 0.000745 0.000084 0.000439 0.000000 0.000851 0.000267 0.001290 0.000000 0.000478 0.001290 201 2 15 0 16 8 157 0 3 269634 23786 34134 9666 18812 30018 121672 25266 6280 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 201 2 15 0 16 8 157 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8584 4394 12978 12 0 12 0.001396 0 0.000923788 0.001396 0 0.000923788 40 transition C T C>T 1.000 2.788 R Arg CGG 0.207 W Trp TGG 1.000 464 12 9 C. elegans -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C15 81.64 71.01 Deleterious 0.01 III.50 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0012 0.0014 0.002 0.003 . ENSG00000140564:ENST00000268171:exon13:c.C1390T:p.R464W FURIN:uc002bpu.1:exon13:c.C1390T:p.R464W . . . 0.4463668 . . @ 129 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.891 . @ . . . . . 1 0.884 . . 289.0 . . . . 0.0009 0.0014 . 0.0009 0.0014 . 0.1093 0.087 0.109 c . . . . . 8.695e-04 . . . 0 0.0007 0.0004 0.0011 0 0.0013 0 6.735e-05 0 0.0008 0.0005 0.0009 0 0.0014 0 6.775e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.636 . . exonic exonic exonic . . 0.417 0.0012 . . . 0.38 0.33 182 ENSG00000140564 FURIN FURIN . . . 1.000 0.747 . 65 0.00100037 64976 59 0.000983563 59986 Uncertain_significance . 0 . 0.447 . . . . D 0.710 0.070 . . 37 . 0.539 . . 0.612 . . . 0.681 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.758 . . 0 0 0 0 0 0 . 0.600 . . 0.405 . . . . . . 0 0.546 . . . . . 0.654 . 0.640 . HET 0.02 rs150925934 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 14.2533 0.0 ENST00000268171 IV.65 III.72 . 0.010000 P09958 . . . 0.000924 . 0.495 . . III.72 6.641e-05 0.0008 0.0004 0 0.0008 0 0.0013 0.0006 0.0003 0.0001 0.0006 0.0012 0 0.0012 0 0.0009 0 . . 0.730 . 1.163 1.163000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.502 0.998 . 0.504 . 0.329 1.163 0.871 0.0028 . . rs150925934 rs150925934 1 1538 10 1/0 0,213,248 +rs144093014 15 93498721 T C - CHD2 1917 Chromodomain helicase DNA binding protein 2 NM_001271.3 1 9364 5487 NP_001262.3 O14647 substitution synonymous exon GRCh37 93498721 93498721 Chr15(GRCh37):g.93498721T>C 1788 1788 NM_001271.3:c.1788T>C p.Tyr596= p.Tyr596Tyr 15 602119 -22 5' 85.1573 6.63725 0.989987 0 85.1573 6.63725 0.989987 0 0 SNF2-related DEAD-like helicase rs144093014 yes no Frequency/1000G 2 T benign 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.006000 0.010100 0.005720 0.001367 0.004273 0.002590 0.000059 0.000076 0.006540 0.018326 0.005314 0.018326 1458 30 123 25 1 2 785 461 31 254878 21950 28788 9654 17026 26446 120024 25156 5834 0.000102 0.000000 0.000139 0.000000 0.000000 0.000000 0.000083 0.000398 0.000343 13 0 2 0 0 0 5 5 1 1432 30 119 25 1 2 775 451 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8538 4387 12925 58 5 63 0.00674732 0.00113843 0.00485063 0.00674732 0.00113843 0.00485063 51 RCV000248249.2|RCV000227352.2 germline|germline|germline clinical testing|clinical testing|clinical testing Benign|Benign 2|1 not specified|Epileptic encephalopathy, childhood-onset transition T C T>C 1.000 0.448 Y Tyr TAT 0.438 Y Tyr TAC 0.562 596 255 PASS . 0.0046 0.02 . 0.01 . 0.0026 0.01 . 0.006 . . . CHD2:NM_001271:exon15:c.T1788C:p.Y596Y . . 0.33333334 . . germline 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Benign//\%//\@Benign Benign|Benign RCV000227352.1|RCV000248249.1 . MedGen:OMIM|MedGen C3809278:615369|CN169374 2 . . . 39.0 . . SYNONYMOUS_CODING(LOW|SILENT|taT/taC|Y596|CHD2|mRNA|CODING|NM_001271|NM_001271.ex.15) 0.0011 0.0049 0.0067 0.0011 0.0049 0.0067 . 1.1242 . . . . . . . . 5.401e-03 . . . 0.0016 0.0049 0.0040 0.0002 0.0220 0.0071 0.0066 6.919e-05 0.0013 0.0061 0.0039 0.0001 0.0215 0.0083 0.0070 6.96e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.5 0.21 182 ENSG00000173575 CHD2 CHD2 . . . . . . 472 0.00726422 64976 459 0.00765179 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144093014 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004851 . . . . . 0.0012 0.0057 0.0044 0.0027 6.49e-05 0.0183 0.0066 0.0047 7.563e-05 0.0016 0.0058 0.0012 0 0 0.0186 0.0061 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs144093014 rs144093014 1 1538 10 1/0 0,255,255 +rs200156126 15 100340072 G C - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340072 100340072 Chr15(GRCh37):g.100340072G>C 855 855 NR_003260.1:n.855C>G 4 -236 5' 72.0444 8.68156 0.754993 13.2286 72.0444 8.68156 0.754993 13.2286 0 rs200156126 yes no Frequency 1 0.000000 0 0.002898 0.013657 0.000656 0.001159 0.000314 0.002797 0.002673 0.001585 0.001634 0.013657 525 185 17 9 4 65 220 18 7 181150 13546 25910 7762 12752 23240 82298 11358 4284 0.000088 0.000886 0.000000 0.000000 0.000000 0.000172 0.000000 0.000000 0.000000 8 6 0 0 0 2 0 0 0 509 173 17 9 4 61 220 18 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.984 -2.297 217 PASS . . . . . . . . . . . . . . . . 0.20289855 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 207.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgC/tgG|C285W|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.6077 . . . . . . . . . . . . 0.0120 0.0031 0.0007 0.0007 0.0004 0.0020 0.0022 0.0050 0.0101 0.0021 0.0006 0.0007 0.0004 0.0010 0.0020 0.0049 . . . . . . ncRNA_exonic upstream\x3bdownstream ncRNA_exonic . . . @ . . . 0.25 0.26 182 ENSG00000182397 . DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.44 rs200156126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0127 0.0021 0.0006 0.0012 0.0003 0.0005 0.0019 0.0011 0.0028 0.0154 0.0097 0.0036 0 0.0009 0.0064 0.0094 0.0050 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs200156126 rs200156126 1 1538 10 1/0 0,204,255 +rs200645530 15 100340097 C T - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340097 100340097 Chr15(GRCh37):g.100340097C>T 830 830 NR_003260.1:n.830G>A 4 -261 5' 72.0444 8.68156 0.754993 13.2286 72.0444 8.68156 0.754993 13.2286 0 Cryptic Donor Strongly Activated 100340096 0.451563 0.037418 62.6288 3.11989 0.455021 71.5895 rs200645530 yes no Frequency 1 0.000000 0 0.000294 0.000509 0.000062 0.003579 0.000228 0.000111 0.000145 0.000000 0.000182 0.003579 67 10 2 32 4 3 15 0 1 228000 19648 32110 8940 17540 26986 103122 14150 5504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 10 2 32 4 3 15 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.992 -0.198 184 PASS . . . . . . . . . . . . . . . . 0.12162162 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 222.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R277H|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.1656 . . . . . . . . 2.502e-03 . . . 0.0021 0.0022 0.0007 0.0013 0.0007 0.0037 0 0.0010 0.0019 0.0021 0.0007 0.0013 0.0005 0.0031 0 0.0010 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.23 0.25 182 ENSG00000182397 DQ595494 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs200645530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0003 6.378e-05 0.0035 0.0002 0 9.924e-05 0.0002 0.0001 0.0007 0.0005 0 0.0070 0 0 0.0005 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . rs200645530 rs200645530 1 1538 10 1/0 0,194,255 +. 15 100340122 GAGA G - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 deletion exon GRCh37 100340123 100340125 Chr15(GRCh37):g.100340123_100340125del 802 804 NR_003260.1:n.802_804del 4 -287 5' 72.0444 8.68156 0.754993 13.2286 72.0444 8.68156 0.754993 13.2286 0 rs368425453 yes no Frequency 1 0.000000 0 0.001913 0.005349 0.000818 0.000589 0.001069 0.000252 0.002433 0.001497 0.001851 0.005349 344 88 23 4 16 6 185 14 8 179834 16452 28122 6790 14972 23784 76038 9354 4322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 343 87 23 4 16 6 185 14 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes TCT 255 Pass . . . . . . . . . . . . DNM1P46:uc010bow.3:exon4:c.430_432del:p.144_144del . . . 0.15350877 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 228 . . CODON_DELETION(MODERATE||tct/-|S268-|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) 0.13 0.18 0.2 . . . . . . . . . . . . . . . . . 0.0452 0.0543 0.0353 0.0491 0.0905 0.0771 0.0568 0.0200 0.0471 0.0603 0.0356 0.0494 0.0847 0.0815 0.0530 0.0199 . nonframeshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368425453 . . . . . . . . . . . . . . . . . . . . . . . 0.176188 . . . . . 0.0045 0.0014 0.0008 0.0006 0.0010 0.0005 0.0020 0.0011 0.0003 0.0070 0.0058 0.0033 0 0.0017 0.0050 0.0061 0.0070 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.2 . . rs368425453 rs368425453 1 1538 10 1.I 0,6,81 +rs200691929 15 100340175 T A - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340175 100340175 Chr15(GRCh37):g.100340175T>A 752 752 NR_003260.1:n.752A>T 4 285 3' 79.9923 8.80835 0.466919 11.1478 79.9923 8.80835 0.466919 11.1478 0 rs200691929 yes no Frequency 1 0.000000 0 transversion A T A>T 0.929 1.093 216 PASS . . . . . . . . . . . . . . . . 0.20111732 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 179.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gTa|E251V|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.4418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.26 0.27 182 ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200691929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs200691929 rs200691929 1 1538 10 1/0 0,211,255 +rs113166086 15 100340178 C T - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340178 100340178 Chr15(GRCh37):g.100340178C>T 749 749 NR_003260.1:n.749G>A 4 282 3' 79.9923 8.80835 0.466919 11.1478 79.9923 8.80835 0.466919 11.1478 0 rs113166086 no no 0 0.000000 0 0.003568 0.036934 0.002751 0.000000 0.001174 0.000540 0.000362 0.000172 0.001961 0.036934 358 279 41 0 9 6 17 1 5 100340 7554 14906 3828 7666 11116 46908 5812 2550 0.000578 0.006884 0.000134 0.000000 0.000000 0.000000 0.000043 0.000000 0.000784 29 26 1 0 0 0 1 0 1 156 110 5 1 1 12 23 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.929 0.286 113 PASS . . . . . . . . . . . . . . . . 0.23952095 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 167.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R250Q|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.4513 . . . . . . . . . . . . 0.0271 0.0031 0.0025 0 0 0.0003 0 0.0008 0.0273 0.0023 0.0026 0.0005 0 7.284e-05 0.0052 0.0008 . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.18 0.19 182 ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0340 0.0027 0.0027 0 0.0011 0.0002 0.0004 0.0019 0.0005 0.0420 0.0099 0.0051 0 0.0014 0 0.0002 0.0024 . . . . . . . . . . . 1.0E-113 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,235,255 +rs200037202 15 100340179 G C - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340179 100340179 Chr15(GRCh37):g.100340179G>C 748 748 NR_003260.1:n.748C>G 4 281 3' 79.9923 8.80835 0.466919 11.1478 79.9923 8.80835 0.466919 11.1478 0 rs200037202 yes no Frequency 1 0.000000 0 0.008945 0.040067 0.004348 0.000000 0.000000 0.000000 0.000143 0.000000 0.002128 0.040067 123 119 2 0 0 0 1 0 1 13750 2970 460 170 856 0 7010 1814 470 0.048780 0.050420 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 6 6 0 0 0 0 0 0 0 110 107 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 76 Genomes transversion C G C>G 0.953 1.577 226 PASS . . . . . . . . . . . . . . . . 0.25882354 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 170.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R250G|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.5080 . . . . . . . . . . . . 0.0148 0.0013 0.0013 0 0 0.0001 0 0.0003 0.0145 0.0009 0.0013 0 0 5.834e-05 0.0024 0.0003 . . . . . . ncRNA_exonic intronic ncRNA_exonic . . . @ . . . 0.2 0.17 182 ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs200037202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0401 0.0089 0.0043 0 0 0 0.0001 0.0021 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . rs200037202 rs200037202 1 1538 10 1/0 0,221,255 +rs202053487 15 100340217 T C - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution exon GRCh37 100340217 100340217 Chr15(GRCh37):g.100340217T>C 710 710 NR_003260.1:n.710A>G 4 243 3' 79.9923 8.80835 0.466919 11.1478 79.9923 8.80835 0.466919 11.1478 0 rs202053487 yes no Frequency 1 0.000000 0 0.000423 0.001205 0.000292 0.000109 0.000000 0.000297 0.000478 0.000522 0.000000 0.001205 94 19 9 1 0 8 50 7 0 222336 15766 30816 9166 16322 26902 104572 13414 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 94 19 9 1 0 8 50 7 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.433 -0.037 179 PASS . . . . . . . . . . . . DNM1P46:uc010bow.3:exon3:c.A403G:p.R135G . . . 0.11111111 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 144.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q237R|DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|NR_003260.ex.4) . . . . . . . -0.2672 . . . . . . . . 5.172e-05 . . . 0 7.594e-05 0.0001 0 0 0.0001 0 0 0 6.235e-05 0.0001 0 0 9.135e-05 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.23 182 ENSG00000182397 DNM1P46 DNM1P46 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 rs202053487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0004 0.0002 0 0 0.0006 0.0004 0 0.0003 0.0009 0.0009 0.0046 0.0042 0 0.0004 0.0008 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs202053487 rs202053487 1 1538 10 1/0 0,211,255 +rs2603227 15 100348531 T G - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution upstream GRCh37 100348531 100348531 Chr15(GRCh37):g.100348531T>G -1399 -1399 NR_003260.1:n.-1399A>C p.? p.? 1 -1531 5' 71.6826 7.06725 0.303648 8.04941 71.6826 7.06725 0.303648 8.04941 0 rs2603227 yes no Frequency/1000G 2 0.000000 0 0.001043 0.004161 0.000556 0.000000 0.001698 0.000815 0.001060 0.000435 0.001461 0.004161 96 19 9 0 10 12 40 2 4 92036 4566 16194 5590 5890 14728 37730 4600 2738 0.000152 0.000000 0.000124 0.000000 0.000340 0.000679 0.000000 0.000000 0.000000 7 0 1 0 1 5 0 0 0 82 19 7 0 8 2 40 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.004 -1.005 111 PASS 0.12 0.08 0.08 0.07 0.07 . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 6.0 . . UPSTREAM(MODIFIER||||DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|) . . . . . . . -0.6343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intergenic . . . @ . . . 0.22 0.2 182 ENSG00000259363 DJ031154 . . . dist\x3d1399\x3bdist\x3d163112 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs183563600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0003 0.0003 0 0.0006 0 6.451e-05 0.0004 0.0008 0.0082 0.0059 0.0085 0 0.0118 0.0012 0.0056 0.0065 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.12 rs2603227 rs2603227 rs2603227 rs183563600 1 1538 255 1.I 0,0,255 +rs2603226 15 100348533 G C - DNM1P46 35199 DNM1 pseudogene 46 NR_003260.1 -1 3831 0 substitution upstream GRCh37 100348533 100348533 Chr15(GRCh37):g.100348533G>C -1401 -1401 NR_003260.1:n.-1401C>G p.? p.? 1 -1533 5' 71.6826 7.06725 0.303648 8.04941 71.6826 7.06725 0.303648 8.04941 0 rs2603226 yes no Frequency/1000G 2 0.000000 0 0.001107 0.004694 0.000498 0.000000 0.002244 0.001025 0.001017 0.000435 0.001476 0.004694 101 21 8 0 13 15 38 2 4 91236 4474 16072 5566 5794 14640 37382 4598 2710 0.000241 0.000447 0.000124 0.000000 0.000345 0.000956 0.000054 0.000000 0.000000 11 1 1 0 1 7 1 0 0 79 19 6 0 11 1 36 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.005 111 PASS 0.13 0.08 0.08 0.07 0.06 . . . . . . . . . . . 1.0 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 6.0 . . UPSTREAM(MODIFIER||||DNM1P46|Non-coding_transcript|NON_CODING|NR_003260|) . . . . . . . -0.6412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intergenic . . . @ . . . 0.16 0.24 182 ENSG00000259363 DJ031154 . . . dist\x3d1401\x3bdist\x3d163110 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2603226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0004 0.0003 0 0.0006 0 6.511e-05 0.0004 0.0010 0.0084 0.0059 0.0064 0 0.0166 0.0012 0.0054 0.0067 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.13 rs2603226 rs2603226 rs2603226 rs188658537 1 1538 255 1.I 0,0,255 +rs200920459 15 101601343 G A - LRRK1 18608 Leucine rich repeat kinase 1 NM_024652.5 1 10449 6048 NP_078928.3 Q38SD2 substitution intron GRCh37 101601343 101601343 Chr15(GRCh37):g.101601343G>A 4680-33 4680-33 NM_024652.5:c.4680-33G>A p.? p.? 30 29 610986 -33 3' 87.9949 8.67379 0.610602 5.69471 87.9949 8.67379 0.610602 5.67277 0 New Acceptor Site 101601345 2.79526 0.054206 79.0082 rs200920459 yes no Frequency 1 G 0.000000 0 0.000152 0.000084 0.000266 0.000000 0.000106 0.000034 0.000212 0.000000 0.000159 0.000266 41 2 9 0 2 1 26 0 1 269472 23800 33850 9564 18792 29772 122398 25002 6294 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 2 9 0 2 1 26 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8374 4138 12512 4 0 4 0.000477441 0 0.000319591 0.000477441 0 0.000319591 58 transition G A G>A 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.40449437 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||LRRK1|mRNA|CODING|NM_024652|) . 0.0003 0.0005 . 0.0003 0.0005 . -0.3309 . . . . . . . . 1.594e-04 . . . 0.0001 0.0002 0.0002 0.0002 0 0.0003 0 0 0.0001 0.0001 0.0002 0.0003 0 0.0002 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.37 0.27 182 ENSG00000259755 LRRK1 LRRK1 . . . . . . 5 7.69515e-05 64976 5 8.33528e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200920459 . . . . . . . . . . . . . . . . . . . . . . . 0.000320 . . . . . 0.0001 0.0002 0.0003 0 0.0001 0 0.0002 0 3.359e-05 0 0.0001 0 0 0 0 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs200920459 rs200920459 1 1538 10 1/0 0,255,255 +rs117481449 15 101775770 C T - CHSY1 17198 Chondroitin sulfate synthase 1 NM_014918.4 -1 4550 2409 NP_055733.2 Q86X52 substitution synonymous exon GRCh37 101775770 101775770 Chr15(GRCh37):g.101775770C>T 333 333 NM_014918.4:c.333G>A p.Lys111= p.Lys111Lys 2 608183 13 3' 90.3996 5.99612 0.741385 3.39182 90.3996 5.99612 0.693883 III.54 -0.0213573 Fringe-like rs117481449 yes no Frequency/1000G 2 C 0.000000 0 0.008187 0.000000 0.003100 0.000000 0.005000 0.047600 0.008978 0.000835 0.053081 0.001380 0.000000 0.002438 0.003784 0.000565 0.005137 0.053081 2459 20 1826 14 0 75 478 13 33 273878 23966 34400 10146 18840 30768 126322 23012 6424 0.000431 0.000000 0.003256 0.000000 0.000000 0.000195 0.000000 0.000000 0.000000 59 0 56 0 0 3 0 0 0 2341 20 1714 14 0 69 478 13 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8554 4400 12954 46 6 52 0.00534884 0.00136178 0.00399815 0.00534884 0.00136178 0.00399815 63 COSM6195058 Breast 0.000408 2453 transition G A G>A 1.000 1.013 K Lys AAG 0.575 K Lys AAA 0.425 111 255 PASS . 0.01 0.03 . 0.01 . 0.0082 0.048 . 0.005 0.0031 ENSG00000131873:ENST00000254190:exon2:c.G333A:p.K111K CHSY1:uc021sxt.1:exon2:c.G333A:p.K111K CHSY1:NM_014918:exon2:c.G333A:p.K111K . . 0.37142858 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 1 1 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K111|CHSY1|mRNA|CODING|NM_014918|NM_014918.ex.2) 0.0014 0.004 0.0053 0.0014 0.004 0.0053 . I.27 . . . . . . . . 7.458e-03 . . . 0.0009 0.0096 0.0557 0 0.0008 0.0039 0.0014 0.0025 0.0005 0.0082 0.0562 0 0.0008 0.0034 0 0.0026 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0082 . . . 0.32 0.25 182 ENSG00000131873 CHSY1 CHSY1 . . . . . . 182 0.00280103 64976 141 0.00235055 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117481449 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . 0.003998 . . . . V.21 0.0006 0.0097 0.0535 0.0013 0 0.0005 0.0039 0.0057 0.0024 0.0013 0.0030 0.0370 0.0033 0 0.0009 0.0029 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . rs117481449 rs117481449 1 1538 10 1/0 0,255,255 +rs200632191 (chr15:102292708 T/C) 15 102292708 T C Not on a known gene +rs752893197 (chr15:102292723 A/C) 15 102292723 A C Not on a known gene +rs746421537 (chr15:102292726 G/A) 15 102292726 G A Not on a known gene +rs202055108 (chr15:102293002 G/C) 15 102293002 G C Not on a known gene +rs201286101 (chr15:102293038 C/G) 15 102293038 C G Not on a known gene +rs201195005 (chr15:102293102 A/C) 15 102293102 A C Not on a known gene +rs2943081 (chr15:102293253 T/G) 15 102293253 T G Not on a known gene +. (chr15:102293266 T/C) 15 102293266 T C Not on a known gene +rs200475579 (chr15:102293924 C/A) 15 102293924 C A Not on a known gene +rs201315134 (chr15:102294439 G/T) 15 102294439 G T Not on a known gene +rs201999854 (chr15:102295130 G/A) 15 102295130 G A Not on a known gene +. (chr15:102295171 AGCT/A) 15 102295171 AGCT A Not on a known gene +. (chr15:102295697 AGCT/A) 15 102295697 AGCT A Not on a known gene +. (chr15:102295802 C/G) 15 102295802 C G Not on a known gene +rs199633252 (chr15:102296272 C/A) 15 102296272 C A Not on a known gene +. (chr15:102296517 G/A) 15 102296517 G A Not on a known gene +rs202073613 (chr15:102298279 C/A) 15 102298279 C A Not on a known gene +rs77472710 (chr15:102298506 A/G) 15 102298506 A G Not on a known gene +rs74648399 (chr15:102298528 T/C) 15 102298528 T C Not on a known gene +rs201471263 (chr15:102298601 A/C) 15 102298601 A C Not on a known gene +rs201598659 (chr15:102298718 G/C) 15 102298718 G C Not on a known gene +. (chr15:102298763 T/C) 15 102298763 T C Not on a known gene +. (chr15:102298785 A/C) 15 102298785 A C Not on a known gene +. (chr15:102298792 G/C) 15 102298792 G C Not on a known gene +rs200935451 (chr15:102298912 C/T) 15 102298912 C T Not on a known gene +rs74475076 (chr15:102298934 G/T) 15 102298934 G T Not on a known gene +rs530751 (chr15:102298942 C/G) 15 102298942 C G Not on a known gene +rs199874910 (chr15:102299099 G/C) 15 102299099 G C Not on a known gene +rs201166317 (chr15:102299366 G/C) 15 102299366 G C Not on a known gene +. (chr15:102299397 A/G) 15 102299397 A G Not on a known gene +rs768463706 (chr15:102300064 C/T) 15 102300064 C T Not on a known gene +rs202145896 (chr15:102300756 G/C) 15 102300756 G C Not on a known gene +rs201384893 (chr15:102301378 G/C) 15 102301378 G C Not on a known gene +. (chr15:102301414 C/G) 15 102301414 C G Not on a known gene +rs200671492 (chr15:102301789 C/T) 15 102301789 C T Not on a known gene +. (chr15:102302872 G/C) 15 102302872 G C Not on a known gene +. (chr15:102302892 G/A) 15 102302892 G A Not on a known gene +rs199758609 (chr15:102303180 C/A) 15 102303180 C A Not on a known gene +rs201320552 (chr15:102303526 A/G) 15 102303526 A G Not on a known gene +rs377573891 (chr15:102303750 A/T) 15 102303750 A T Not on a known gene +rs370132054 (chr15:102303753 C/A) 15 102303753 C A Not on a known gene +rs879038227 (chr15:102304631 C/T) 15 102304631 C T Not on a known gene +rs137881065 (chr15:102304638 C/T) 15 102304638 C T Not on a known gene +. (chr15:102304643 G/C) 15 102304643 G C Not on a known gene +rs573929742 (chr15:102313267 C/T) 15 102313267 C T Not on a known gene +rs775307138 15 102500754 C A - MIR1302-10 38233 MicroRNA 1302-10 NR_036267.1 1 138 0 substitution exon GRCh37 102500754 102500754 Chr15(GRCh37):g.102500754C>A 93 93 NR_036267.1:n.93C>A 1 rs775307138 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 11.0 . . . . . . . . . . -0.5762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . 0.59 0.15 182 ENSG00000259553 WASH3P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs775307138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4248191 rs4248191 rs4248191 rs4248191 1 1538 10 1/0 0,255,255 +rs775307138 15 102500754 C A - WASH3P 24362 WAS protein family homolog 3 pseudogene NR_003659.2 1 2554 0 substitution upstream GRCh37 102500754 102500754 Chr15(GRCh37):g.102500754C>A -262 -262 NR_003659.2:n.-262C>A p.? p.? 1 -1091 5' 90.6189 10.0684 0.959757 14.5285 90.6189 10.0684 0.959757 14.5285 0 rs775307138 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 11.0 . . . . . . . . . . -0.5762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . 0.59 0.15 182 ENSG00000259553 WASH3P . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs775307138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4248191 rs4248191 rs4248191 rs4248191 1 1538 10 1/0 0,255,255 +rs878873154 15 102512161 T C - MIR6859-3 50248 MicroRNA 6859-3 NR_107063.1 1 68 0 substitution upstream GRCh37 102512161 102512161 Chr15(GRCh37):g.102512161T>C -1566 -1566 NR_107063.1:n.-1566T>C p.? p.? 1 rs878873154 no no 0 T 0.000000 0 0.000327 0.000000 0.004202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004202 1 0 1 0 0 0 0 0 0 3062 178 238 48 458 0 1216 794 130 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition T C T>C 0.028 0.609 243 PASS . . . . . . . . . . . . WASH3P:uc031qum.1:exon1:c.T97C:p.C33R . . . 0.29032257 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.7253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.5 0.17 182 ENSG00000185596 WASH3P WASH3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000354296 0.719 0.719 . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0042 0 0 0 0 0 . . . . 0.570 0.570000 . . . . . 1.0E-243 . . . . . . . . . 0.570 . . rs11266755 rs11266755 rs11266755 rs11266755 1 1538 10 1/0 0,255,255 +rs878873154 15 102512161 T C - WASH3P 24362 WAS protein family homolog 3 pseudogene NR_003659.2 1 2554 0 substitution intron GRCh37 102512161 102512161 Chr15(GRCh37):g.102512161T>C 984-638 984-638 NR_003659.2:n.984-638T>C p.? p.? 3 2 -638 3' 0 2.49904 0.72244 0 0 2.49904 0.72244 0 0 rs878873154 no no 0 T 0.000000 0 0.000327 0.000000 0.004202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004202 1 0 1 0 0 0 0 0 0 3062 178 238 48 458 0 1216 794 130 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition T C T>C 0.028 0.609 243 PASS . . . . . . . . . . . . WASH3P:uc031qum.1:exon1:c.T97C:p.C33R . . . 0.29032257 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . . . . . . . . . -0.7253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.5 0.17 182 ENSG00000185596 WASH3P WASH3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . ENST00000354296 0.719 0.719 . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0042 0 0 0 0 0 . . . . 0.570 0.570000 . . . . . 1.0E-243 . . . . . . . . . 0.570 . . rs11266755 rs11266755 rs11266755 rs11266755 1 1538 10 1/0 0,255,255 +rs28455646 15 102517678 C G - DDX11L9 37109 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 NR_034090.1 -1 1652 0 substitution exon GRCh37 102517678 102517678 Chr15(GRCh37):g.102517678C>G 735 735 NR_034090.1:n.735G>C 3 272 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 rs28455646 yes no Frequency/1000G 2 0.000000 0 0.000041 0.000000 0.000000 0.000189 0.000000 0.000000 0.000087 0.000000 0.000000 0.000189 4 0 0 1 0 0 3 0 0 97438 1418 22760 5286 13572 11690 34654 5608 2450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transversion G C G>C 0.016 -0.037 255 PASS 0.04 0.02 0.01 0.0035 0.02 . . . . . . . DDX11L9:uc010utv.1:exon3:c.G255C:p.Q85H . . . 0.39772728 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . -0.3936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.71 0.23 182 ENSG00000248472 DDX11L9 DDX11L9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs28455646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.105e-05 0 0.0002 0 0 8.657e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 rs28455646 rs28455646 rs28455646 rs183939985 1 1538 10 1/0 0,251,255 +rs28455646 15 102517678 C G - WASH3P 24362 WAS protein family homolog 3 pseudogene NR_003659.2 1 2554 0 substitution downstream GRCh37 102517678 102517678 Chr15(GRCh37):g.102517678C>G *870 *870 NR_003659.2:n.*870C>G p.? p.? 11 1343 3' 93.5871 8.33551 0.970926 9.19921 93.5871 8.33551 0.970926 9.19921 0 rs28455646 yes no Frequency/1000G 2 0.000000 0 0.000041 0.000000 0.000000 0.000189 0.000000 0.000000 0.000087 0.000000 0.000000 0.000189 4 0 0 1 0 0 3 0 0 97438 1418 22760 5286 13572 11690 34654 5608 2450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transversion C G C>G 0.016 -0.037 255 PASS 0.04 0.02 0.01 0.0035 0.02 . . . . . . . DDX11L9:uc010utv.1:exon3:c.G255C:p.Q85H . . . 0.39772728 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . . . . . . . . . -0.3936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.71 0.23 182 ENSG00000248472 DDX11L9 DDX11L9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs28455646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.105e-05 0 0.0002 0 0 8.657e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 rs28455646 rs28455646 rs28455646 rs183939985 1 1538 10 1/0 0,251,255 +. 15 102518972 C G - DDX11L9 37109 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 NR_034090.1 -1 1652 0 substitution exon GRCh37 102518972 102518972 Chr15(GRCh37):g.102518972C>G 325 325 NR_034090.1:n.325G>C 1 -30 5' 78.9497 9.09184 0.971166 4.42046 78.9497 9.09184 0.971166 4.38247 0 transversion G C G>C 0.992 -0.117 255 PASS . . . . . . . . . . . . DDX11L9:uc010utv.1:exon1:c.G9C:p.E3D . . . 0.7222222 . . @ 117 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 162.0 . . . . . . . . . . -0.3311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.74 0.29 182 ENSG00000248472 DDX11L9 DDX11L9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . IV.38 . ENST00000515173 0.848 -1.27 . . B7ZGX9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.365 -0.365000 . . . . . 1.0E-255 . . . . . . . . . -0.365 . . rs3871692 rs3871692 rs3871692 rs3871692 1 1538 10 1/0 0,242,239 +rs200079147 16 66940 G A - MIR6859-4 50840 MicroRNA 6859-4 NR_128720.1 -1 68 0 substitution downstream GRCh37 66940 66940 Chr16(GRCh37):g.66940G>A *112 *112 NR_128720.1:n.*112C>T p.? p.? 1 rs200079147 yes no Frequency 1 G 0.000000 0 0.001797 0.002238 0.000590 0.001749 0.000338 0.000806 0.002368 0.003077 0.001692 0.003077 396 35 18 14 6 21 225 68 9 220402 15638 30524 8004 17762 26044 95008 22102 5320 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 396 35 18 14 6 21 225 68 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.044 175 PASS . . . . . . . . . . . ENSG00000234769:ENST00000326592:exon5:c.C696T:p.S232S WASH1:uc002cfg.1:exon5:c.C696T:p.S232S . . . 0.10309278 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . . . . . . . . . 0.5750 . . . . . . . . 2.507e-03 . . . 0.0029 0.0042 0.0020 0.0006 0.0075 0.0066 0.008 0.0027 0.0026 0.0042 0.0017 0.0011 0.0077 0.0061 0.0072 0.0027 synonymous_SNV synonymous_SNV . . . . exonic exonic downstream . . . @ . . . 0.37 0.48 182 ENSG00000234769 WASH1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200079147 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0014 0.0006 0.0015 0.0003 0.0028 0.0018 0.0016 0.0008 0.0038 0.0045 0 0.0084 0.0006 0.0046 0.0057 0.0023 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs200079147 rs200079147 1 1538 10 1/0 0,228,255 +rs201686602 16 67086 A G - MIR6859-4 50840 MicroRNA 6859-4 NR_128720.1 -1 68 0 substitution exon GRCh37 67086 67086 Chr16(GRCh37):g.67086A>G 34 34 NR_128720.1:n.34T>C 1 rs201686602 yes no Frequency 1 A 0.000000 0 0.006375 0.003295 0.004705 0.014669 0.000169 0.009042 0.008361 0.004291 0.004854 0.014669 932 47 105 70 2 151 467 71 19 146194 14266 22316 4772 11824 16700 55856 16546 3914 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 1 0 0 0 0 0 1 0 0 930 47 105 70 2 151 465 71 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.378 -0.037 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 126.0 . . . . . . . . . . -0.1993 . . . . . . . . 7.127e-03 . . . 0.0086 0.0284 0.0291 0 0 0.0297 0.0204 0.0390 0.0069 0.0303 0.0203 0 0.0198 0.0342 0.0185 0.0392 . . . . . . UTR3 intronic ncRNA_exonic . . . @ . . . 0.65 0.55 182 ENSG00000234769 WASH1 . ENST00000495251:c.*584T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs201686602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0066 0.0046 0.0146 9.796e-05 0.0041 0.0089 0.0053 0.0090 0.0047 0.0056 0.0064 0.0157 0.0006 0.0049 0.0068 0.0033 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs201686602 rs201686602 1 1538 10 1/0 0,217,255 +. 16 203950 G GGGCC - HBZ 4835 Hemoglobin, zeta NM_005332.2 1 589 429 NP_005323.1 P02008 insertion frameshift exon GRCh37 203951 203952 Chr16(GRCh37):g.203951_203952insGCCG 156 157 NM_005332.2:c.156_157insGCCG p.Ser53Alafs*125 p.Ser53Alafs*125 2 142310 61 3' 77.8172 6.88875 0.484402 6.63635 77.8172 6.88875 0.484402 5.42728 0 Cryptic Acceptor Weakly Activated 203961 3.68918 0.023737 64.6008 4.57366 0.005153 67.1456 Haemoglobin, alpha Haemoglobin, zeta Haemoglobin, pi Globin, subset GCCG 255 Pass . . . . . . . . . . . ENSG00000130656:ENST00000252951:exon2:c.155_156insGGCC:p.G52fs HBZ:uc002cft.1:exon2:c.155_156insGGCC:p.G52fs HBZ:NM_005332:exon2:c.155_156insGGCC:p.G52fs . . 0.1880734 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 218 . . FRAME_SHIFT(HIGH||||HBZ|mRNA|CODING|NM_005332|NM_005332.ex.2) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000130656 HBZ HBZ . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,73 +. 16 214540 G GGGCC - HBM 4826 Hemoglobin, mu NM_001003938.3 1 510 426 NP_001003938.1 Q6B0K9 insertion upstream GRCh37 214541 214542 Chr16(GRCh37):g.214541_214542insGCCG -1456 -1455 NM_001003938.3:c.-1456_-1455insGCCG p.? p.? 1 609639 -1547 5' 80.0369 VII.76 0.31402 7.93171 80.0369 VII.76 0.31402 7.93171 0 Cryptic Acceptor Weakly Activated 214551 3.68918 0.023737 64.6008 4.57366 0.005153 67.1456 GCCG 255 Pass . . . . . . . . . . . . . . . . 0.18518518 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 216 . . UPSTREAM(MODIFIER||||HBM|mRNA|CODING|NM_001003938|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . . . . . . . . ENSG00000206178 . . . dist\x3d10036\x3bdist\x3d1433 dist\x3d10036\x3bdist\x3d1433 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,73 +. 16 214540 G GGGCC - HBZP1 4836 Hemoglobin subunit zeta pseudogene 1 ENST00000354915.3 1 429 0 insertion exon GRCh37 214541 214542 Chr16(GRCh37):g.214541_214542insGCCG 156 157 ENST00000354915.3:n.156_157insGCCG 2 61 3' 77.8172 6.88875 0.484402 6.63635 77.8172 6.88875 0.484402 5.42728 0 Cryptic Acceptor Weakly Activated 214551 3.68918 0.023737 64.6008 4.57366 0.005153 67.1456 GCCG 255 Pass . . . . . . . . . . . . . . . . 0.18518518 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 216 . . UPSTREAM(MODIFIER||||HBM|mRNA|CODING|NM_001003938|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . . . . . . . . ENSG00000206178 . . . dist\x3d10036\x3bdist\x3d1433 dist\x3d10036\x3bdist\x3d1433 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,73 +rs141494605 16 216593 T C - HBM 4826 Hemoglobin, mu NM_001003938.3 1 510 426 NP_001003938.1 Q6B0K9 substitution synonymous exon GRCh37 216593 216593 Chr16(GRCh37):g.216593T>C 312 312 NM_001003938.3:c.312T>C p.Cys104= p.Cys104Cys 3 609639 15 3' 83.612 XI.69 0.840803 13.3159 83.612 XI.69 0.810393 13.5011 -0.0120559 Globin, subset rs141494605 yes no Frequency/1000G 2 T 0.000000 0 0.004393 0.000000 0.002000 0.000000 0.011900 0.011500 0.008309 0.001130 0.011933 0.038865 0.000053 0.003104 0.009566 0.003004 0.013023 0.038865 2291 27 410 393 1 95 1204 77 84 275728 23904 34358 10112 18802 30608 125864 25630 6450 0.000123 0.000000 0.000116 0.001187 0.000000 0.000065 0.000127 0.000000 0.000000 17 0 2 6 0 1 8 0 0 2257 27 406 381 1 93 1188 77 84 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8510 4401 12911 90 5 95 0.0104651 0.00113482 0.00730432 0.0104651 0.00113482 0.00730432 59 COSM4128809 Thyroid 0.002677 747 transition T C T>C 0.142 0.367 C Cys TGT 0.448 C Cys TGC 0.552 104 255 PASS . 0.0037 0.01 . 0.01 . 0.0044 0.011 . 0.012 0.002 ENSG00000206177:ENST00000356815:exon3:c.T312C:p.C104C HBM:uc002cfu.1:exon3:c.T312C:p.C104C HBM:NM_001003938:exon3:c.T312C:p.C104C . . 0.48453608 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C104|HBM|mRNA|CODING|NM_001003938|NM_001003938.ex.3) 0.0011 0.0073 0.011 0.0011 0.0073 0.011 . 0.9261 . . . . . . . . 8.486e-03 . . . 0.0013 0.0098 0.0106 0 0.0041 0.0159 0.0095 0.0033 0.0014 0.0095 0.0106 0 0.0037 0.0145 0.0068 0.0034 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0044 . . . 0.28 0.57 182 ENSG00000206177 HBM HBM . . . . . . 1441 0.0221774 64976 1419 0.0236555 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141494605 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.007304 . . . . . 0.0011 0.0087 0.0120 0.0394 5.819e-05 0.0030 0.0099 0.0139 0.0031 0.0011 0.0049 0.0095 0.0199 0 0.0029 0.0073 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141494605 rs141494605 1 1538 10 1/0 0,255,255 +rs141494605 16 216593 T C - HBZP1 4836 Hemoglobin subunit zeta pseudogene 1 ENST00000354915.3 1 429 0 substitution downstream GRCh37 216593 216593 Chr16(GRCh37):g.216593T>C *1438 *1438 ENST00000354915.3:n.*1438T>C p.? p.? 3 1567 3' 70.1573 7.12429 0.477091 XI.27 70.1573 7.12429 0.477091 XI.27 0 rs141494605 yes no Frequency/1000G 2 T 0.000000 0 0.004393 0.000000 0.002000 0.000000 0.011900 0.011500 0.008309 0.001130 0.011933 0.038865 0.000053 0.003104 0.009566 0.003004 0.013023 0.038865 2291 27 410 393 1 95 1204 77 84 275728 23904 34358 10112 18802 30608 125864 25630 6450 0.000123 0.000000 0.000116 0.001187 0.000000 0.000065 0.000127 0.000000 0.000000 17 0 2 6 0 1 8 0 0 2257 27 406 381 1 93 1188 77 84 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8510 4401 12911 90 5 95 0.0104651 0.00113482 0.00730432 0.0104651 0.00113482 0.00730432 59 COSM4128809 Thyroid 0.002677 747 transition T C T>C 0.142 0.367 255 PASS . 0.0037 0.01 . 0.01 . 0.0044 0.011 . 0.012 0.002 ENSG00000206177:ENST00000356815:exon3:c.T312C:p.C104C HBM:uc002cfu.1:exon3:c.T312C:p.C104C HBM:NM_001003938:exon3:c.T312C:p.C104C . . 0.48453608 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 97.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C104|HBM|mRNA|CODING|NM_001003938|NM_001003938.ex.3) 0.0011 0.0073 0.011 0.0011 0.0073 0.011 . 0.9261 . . . . . . . . 8.486e-03 . . . 0.0013 0.0098 0.0106 0 0.0041 0.0159 0.0095 0.0033 0.0014 0.0095 0.0106 0 0.0037 0.0145 0.0068 0.0034 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0044 . . . 0.28 0.57 182 ENSG00000206177 HBM HBM . . . . . . 1441 0.0221774 64976 1419 0.0236555 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141494605 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.007304 . . . . . 0.0011 0.0087 0.0120 0.0394 5.819e-05 0.0030 0.0099 0.0139 0.0031 0.0011 0.0049 0.0095 0.0199 0 0.0029 0.0073 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141494605 rs141494605 1 1538 10 1/0 0,255,255 +. 16 324935 T G - RGS11 9993 Regulator of G-protein signaling 11 NM_183337.2 -1 2404 1404 NP_899180.1 O94810 substitution intron GRCh37 324935 324935 Chr16(GRCh37):g.324935T>G 318+41 318+41 NM_183337.2:c.318+41A>C p.? p.? 4 4 603895 41 5' 85.0987 7.19963 0.857516 XII.79 85.0987 7.19963 0.857516 XII.41 0 Cryptic Acceptor Strongly Activated 324919 2.78762 0.087194 69.8102 5.19025 0.251519 69.8102 0.002728 0.000912 0.009782 0.003377 0.003040 0.003357 0.001684 0.000694 0.001532 0.009782 356 12 132 19 28 60 90 10 5 130478 13160 13494 5626 9210 17872 53450 14402 3264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 356 12 132 19 28 60 90 10 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.087 0.851 175 PASS . . . . . . . . . . . ENSG00000076344:ENST00000431291:exon3:c.A115C:p.T39P . . . . 0.10344828 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.6720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000076344 . RGS11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . IV.79 . ENST00000431291 0.412 0.412 . 0.000000 . . . . . . . . . . 0.0012 0.0032 0.0102 0.0035 0.0037 0.0003 0.0021 0.0020 0.0034 0.0007 0.0007 0 0 0 0.0031 0.0005 0 . . . . 0.377 0.377000 . . 0.000000 . . 1.0E-175 . . . . . . . . . 0.377 . . . . . . 1 1538 10 1.I 0,0,0 +. 16 335450 T G - AXIN1 903 Axin 1 NM_003502.3 -1 3660 2589 NP_003493.1 O15169 substitution downstream GRCh37 335450 335450 Chr16(GRCh37):g.335450T>G *2672 *2672 NM_003502.3:c.*2672A>C p.? p.? 11 603816 2799 3' 81.4899 X.74 0.9318 XI.77 81.4899 X.74 0.9318 XI.77 0 transversion A C A>C 0.000 -3.346 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.1922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000185615 . PDIA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 16 335450 T G - PDIA2 14180 Protein disulfide isomerase family A member 2 NM_006849.3 1 1713 1578 NP_006840.2 Q13087 substitution intron GRCh37 335450 335450 Chr16(GRCh37):g.335450T>G 921+13 921+13 NM_006849.3:c.921+13T>G p.? p.? 6 6 608012 13 5' 71.8032 9.04236 0.496207 X.39 71.8032 9.04236 0.496207 11.1635 0 transversion T G T>G 0.000 -3.346 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.1922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000185615 . PDIA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 16 538711 C CTTT - RAB11FIP3 17224 RAB11 family interacting protein 3 (class II) NM_014700.3 1 4252 2271 NP_055515.1 O75154 duplication intron GRCh37 538726 538727 Chr16(GRCh37):g.538724_538726dup 1116-127 1116-125 NM_014700.3:c.1116-127_1116-125dup p.? p.? 5 4 608738 -124 3' 97.3622 XI.08 0.992247 XI.14 97.3622 XI.08 0.992247 XI.14 0 0.001931 0.000713 0.001667 0.000000 0.001361 0.000000 0.001012 0.012794 0.002801 0.012794 48 5 1 0 2 0 13 25 2 24856 7016 600 262 1470 0 12840 1954 714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 191 70 8 3 2 0 50 50 8 0 0 0 0 0 0 0 0 0 RF 46 Genomes TTT 255 Pass . . . . . . . . . . . . . . . . 0.6571429 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000090565 RAB11FIP3 RAB11FIP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3079539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0019 0.0017 0 0.0014 0.0128 0.0010 0.0028 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,18 +rs573366705 16 599580 C G - CAPN15 11182 Calpain 15 NM_005632.2 1 4744 3261 NP_005623.1 O75808 substitution intron GRCh37 599580 599580 Chr16(GRCh37):g.599580C>G 1843-35 1843-35 NM_005632.2:c.1843-35C>G p.? p.? 7 6 603267 -35 3' 81.9728 7.91912 0.92441 5.31021 81.9728 7.91912 0.92441 5.36165 0 0.001568 0.004843 0.005731 0.000000 0.010369 0.000676 0.001144 0.000000 0.004016 0.010369 67 4 20 0 9 7 23 0 4 42718 826 3490 3284 868 10360 20112 2782 996 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 4 20 0 9 7 23 0 4 0 0 0 0 0 0 0 0 0 RF 157 Exomes transversion C G C>G 0.000 0.286 238 PASS . . . . . . . . . . . . . . . . 0.27272728 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||CAPN15|mRNA|CODING|NM_005632|) . . . . . . . 0.6700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000261691 SOLH CAPN15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0016 0.0057 0 0.0104 0 0.0011 0.0040 0.0007 . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs377083511 16 599584 C G - CAPN15 11182 Calpain 15 NM_005632.2 1 4744 3261 NP_005623.1 O75808 substitution intron GRCh37 599584 599584 Chr16(GRCh37):g.599584C>G 1843-31 1843-31 NM_005632.2:c.1843-31C>G p.? p.? 7 6 603267 -31 3' 81.9728 7.91912 0.92441 5.31021 81.9728 7.91912 0.92441 5.44578 0 0.001118 0.001669 0.003880 0.000267 0.002075 0.000707 0.000790 0.001631 0.000727 0.003880 63 6 16 1 4 8 21 6 1 56348 3594 4124 3750 1928 11314 26584 3678 1376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 6 16 1 4 8 21 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.086 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||CAPN15|mRNA|CODING|NM_005632|) . . . . . . . 0.1735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000261691 SOLH CAPN15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0010 0.0040 0.0003 0.0038 0.0003 0.0007 0.0009 0.0007 0.0012 0.0015 0 0 0 0.0086 0.0012 0 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs58615599 16 1257092 C T - CACNA1H 1395 Calcium channel, voltage-dependent, T type, alpha 1H subunit NM_021098.2 1 8088 7062 NP_066921.2 O95180 substitution synonymous exon GRCh37 1257092 1257092 Chr16(GRCh37):g.1257092C>T 2881 2881 NM_021098.2:c.2881C>T p.Leu961= p.Leu961Leu 13 607904 -27 5' 72.5078 6.12739 0.772638 X.28 72.5078 6.12739 0.772638 9.57876 0 Ion transport rs58615599 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.008900 0.005800 0.005041 0.001424 0.002827 0.000826 0.000000 0.001444 0.008721 0.003112 0.005751 0.008721 1273 31 91 8 0 40 994 74 35 252528 21772 32188 9682 17346 27700 113978 23776 6086 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000053 0.000000 0.000000 3 0 0 0 0 0 3 0 0 1267 31 91 8 0 40 988 74 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8377 4242 12619 67 10 77 0.00793463 0.00235183 0.0060649 0.00793463 0.00235183 0.0060649 61 transition C T C>T 1.000 2.304 L Leu CTG 0.404 L Leu TTG 0.127 961 255 PASS . 0.01 0.01 . 0.01 . 0.0026 0.0058 . 0.0089 . . . . . . 0.44927537 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . . 0.0024 0.0061 0.0079 0.0024 0.0061 0.0079 . I.58 . . . . . . . . 4.575e-03 . . . 0.0021 0.0073 0.0049 0 0.0056 0.0122 0.0030 0.0026 0.0023 0.0079 0.0051 0 0.0050 0.0129 0.0098 0.0026 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.22 0.29 182 ENSG00000196557 CACNA1H CACNA1H . . . . . . 455 0.00700259 64976 443 0.00738506 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs58615599 . . . . . . . . . . . . . . . . . . . . . . . 0.006065 . . . . . 0.0013 0.0048 0.0028 0.0007 0 0.0033 0.0082 0.0053 0.0014 0.0016 0.0070 0.0024 0.0033 0 0.0020 0.0123 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs58615599 rs58615599 rs58615599 rs58615599 1 1538 10 1/0 0,239,255 +. 16 1279171 T TC - TPSB2 14120 Tryptase beta 2 (gene/pseudogene) NM_024164.5 -1 1165 828 NP_077078.5 P20231 duplication intron NG_032951.1 6013 6014 NG_032951.1:g.6013dup 499+19 499+19 NM_024164.5:c.499+19dup p.? p.? 4 4 191081 19 5' 76.7393 6.18234 0.481621 7.849 76.7393 6.18234 0.481621 7.73503 0 rs372459129 yes no Frequency 1 0.000000 0 0.008999 0.007997 0.007907 0.001425 0.049580 0.021601 0.005003 0.000422 0.008457 0.049580 271 25 43 1 59 68 66 1 8 30114 3126 5438 702 1190 3148 13192 2372 946 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 271 25 43 1 59 68 66 1 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 2078 574 2652 32 2 34 0.0151659 0.00347222 0.0126582 0.0151659 0.00347222 0.0126582 2 G 255 Pass . . . . . . . . . . . . . . . . 0.2536232 . . . 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 138 . . . 0.0035 0.013 0.015 0.0035 0.013 0.015 . . . . . . . . . . 2.667e-04 . . . 0 0 0 . 0 0 0 0 0 0 0 . 0 0 . 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000197253 TPSB2 TPSB2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372459129 . . . . . . . . . . . . . . . . . . . . . . . 0.012696 . . . . . 0.0088 0.0097 0.0080 0.0015 0.0497 0.0005 0.0054 0.0094 0.0216 0.0025 0.0019 0 0 0 0 0.0025 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.015 . rs71145405 rs71145405 rs71145405 1 1538 10 1.I 0,9,60 +. 16 1292316 A G - TPSAB1 12019 Tryptase alpha/beta 1 NM_003294.3 1 1194 828 NP_003285.2 P20231 substitution 3'UTR GRCh37 1292316 1292316 Chr16(GRCh37):g.1292316A>G *75 *75 NM_003294.3:c.*75A>G p.? p.? 6 191080 240 3' 86.5904 8.83161 0.930986 6.63645 86.5904 8.83161 0.930986 6.63645 0 transition A G A>G 0.000 0.044 235 PASS . . . . . . . . . . . . . . . . 0.27631578 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 304.0 . . UTR_3_PRIME(MODIFIER||||TPSAB1|mRNA|CODING|NM_003294|NM_003294.ex.6) . . . . . . . 0.2699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000172236 TPSAB1 TPSAB1 . . NM_003294:c.*75A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs146882667 16 1365781 G A - UBE2I 12485 Ubiquitin-conjugating enzyme E2I NM_003345.4 1 2860 477 NP_003336.1 P63279 substitution intron GRCh37 1365781 1365781 Chr16(GRCh37):g.1365781G>A 223+54 223+54 NM_003345.4:c.223+54G>A p.? p.? 4 4 601661 54 5' 87.0783 8.62318 0.973076 6.36233 87.0783 8.62318 0.973076 6.13151 0 rs146882667 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.001000 0.004300 0.001878 0.000375 0.000930 0.000000 0.000000 0.000715 0.003152 0.001794 0.001859 0.003152 520 9 32 0 0 22 399 46 12 276880 23994 34420 10140 18864 30782 126582 25644 6454 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 518 9 32 0 0 22 397 46 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3175 1383 4558 7 1 8 0.00219987 0.000722543 0.00175208 0.00219987 0.000722543 0.00175208 58 transition G A G>A 0.000 -1.570 255 PASS . 0.0014 0.01 . 0.0013 . 0.0008 0.0043 . 0.001 . . . . . . 0.6 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . 0.0007 0.0018 0.0022 0.0007 0.0018 0.0022 . -0.2569 . . . . . . . . 2.021e-03 . . . 0.0004 0.0015 0.0008 0 0.0018 0.0025 0.0028 0.0006 0.0003 0.0020 0.0007 0 0.0021 0.0032 0.0029 0.0006 . . . . . . intronic UTR3 intronic . . . 0.0008 . . . 0.33 0.18 182 ENSG00000103275 UBE2I UBE2I . uc002cle.2:c.*46G>A . . . . 130 0.00200074 64976 126 0.00210049 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146882667 . . . . . . . . . . . . . . . . . . . . . . . 0.001752 . . . . . 0.0005 0.0019 0.0010 0 0 0.0019 0.0033 0.0020 0.0007 0.0002 0.0014 0 0 0 0.0011 0.0024 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs146882667 rs146882667 1 1538 10 1/0 0,255,255 +. 16 1578329 CACGT C - IFT140 29077 Intraflagellar transport 140 homolog (Chlamydomonas) NM_014714.3 -1 5268 4389 NP_055529.2 Q96RY7 deletion intron GRCh37 1578330 1578333 Chr16(GRCh37):g.1578330_1578333del 2400-1536 2400-1533 NM_014714.3:c.2400-1536_2400-1533del p.? p.? 20 19 614620 -1533 3' 76.481 7.56643 0.561953 X.27 76.481 7.56643 0.561953 X.27 0 rs200018284 yes no Frequency/1000G 2 0.000000 0 0.004496 0.001863 0.009852 0.000000 0.023166 0.000000 0.004697 0.000000 0.006329 0.023166 133 15 8 0 36 0 68 0 6 29582 8052 812 288 1554 0 14476 3452 948 0.030075 0.000000 0.000000 0.000000 0.055556 0.000000 0.014706 0.000000 0.166667 4 0 0 0 2 0 1 0 1 119 14 7 0 28 0 66 0 4 0 0 0 0 0 0 0 0 0 RF 44 Genomes ACGT 255 Pass 0.01 0.08 0.15 0.12 0.06 . . . . . . . . . . . 0.4057971 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000187535 IFT140 IFT140 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200018284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0045 0.0099 0 0.0232 0 0.0047 0.0063 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 . . rs200018284 rs200018284 1 1538 10 1.I 0,12,39 +. 16 1578329 CACGT C - TMEM204 14158 Transmembrane protein 204 NM_001256541.1 1 1633 681 NP_001243470.1 Q9BSN7 deletion upstream GRCh37 1578330 1578333 Chr16(GRCh37):g.1578330_1578333del -810 -807 NM_001256541.1:c.-810_-807del p.? p.? 1 611002 -465 5' 86.7234 X.83 0.988653 13.9136 86.7234 X.83 0.988653 13.9136 0 rs200018284 yes no Frequency/1000G 2 0.000000 0 0.004496 0.001863 0.009852 0.000000 0.023166 0.000000 0.004697 0.000000 0.006329 0.023166 133 15 8 0 36 0 68 0 6 29582 8052 812 288 1554 0 14476 3452 948 0.030075 0.000000 0.000000 0.000000 0.055556 0.000000 0.014706 0.000000 0.166667 4 0 0 0 2 0 1 0 1 119 14 7 0 28 0 66 0 4 0 0 0 0 0 0 0 0 0 RF 44 Genomes ACGT 255 Pass 0.01 0.08 0.15 0.12 0.06 . . . . . . . . . . . 0.4057971 . . . 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000187535 IFT140 IFT140 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200018284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0045 0.0099 0 0.0232 0 0.0047 0.0063 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 . . rs200018284 rs200018284 1 1538 10 1.I 0,12,39 +rs139103048 16 1825605 C T - EME2 27289 Essential meiotic structure-specific endonuclease subunit 2 NM_001257370.1 1 1140 1140 NP_001244299.1 A4GXA9 substitution synonymous exon GRCh37 1825605 1825605 Chr16(GRCh37):g.1825605C>T 699 699 NM_001257370.1:c.699C>T p.Asp233= p.Asp233Asp 6 610886 36 3' 84.5394 8.07093 0.963922 X.43 84.5394 8.07093 0.963922 X.23 0 rs139103048 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.001000 0.000000 0.003000 0.011500 0.003288 0.000626 0.004185 0.020553 0.000000 0.001917 0.003616 0.000116 0.003720 0.020553 909 15 144 208 0 59 456 3 24 276438 23950 34412 10120 18858 30774 126094 25778 6452 0.000036 0.000000 0.000058 0.000395 0.000000 0.000065 0.000016 0.000000 0.000000 5 0 1 2 0 1 1 0 0 899 15 142 204 0 57 454 3 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8553 4390 12943 41 4 45 0.00477077 0.000910332 0.00346474 0.00477077 0.000910332 0.00346474 47 transition C T C>T 0.000 -2.619 D Asp GAC 0.539 D Asp GAT 0.461 233 255 PASS . 0.0018 0.01 . 0.0013 . 0.0024 0.011 . 0.003 0.001 . . EME2:NM_001257370:exon6:c.C699T:p.D233D . . 0.43438914 . . @ 96 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 221.0 . . . 0.0009 0.0035 0.0048 0.0009 0.0035 0.0048 . 0.6200 . . . . . . . . 3.277e-03 . . . 0.0006 0.0039 0.0043 0 0 0.0065 0.0014 0.0017 0.0006 0.0032 0.0043 0 0 0.0048 0.0014 0.0016 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.28 0.35 182 ENSG00000197774 EME2 EME2 . . . . . . 159 0.00244706 64976 147 0.00245057 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs139103048 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.003465 . . . . . 0.0009 0.0035 0.0041 0.0205 0 4.487e-05 0.0037 0.0040 0.0019 0.0002 0.0019 0.0060 0.0232 0 0.0006 0.0027 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139103048 rs139103048 1 1538 10 1/0 0,220,245 +rs139103048 16 1825605 C T - SPSB3 30629 SplA/ryanodine receptor domain and SOCS box containing 3 NM_001324081.1 -1 1496 1068 NP_001311010.1 Q6PJ21 substitution downstream GRCh37 1825605 1825605 Chr16(GRCh37):g.1825605C>T *1493 *1493 NM_001324081.1:c.*1493G>A p.? p.? 7 611659 1840 3' 85.9048 10.351 0.864999 X.67 85.9048 10.351 0.864999 X.67 0 rs139103048 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.001000 0.000000 0.003000 0.011500 0.003288 0.000626 0.004185 0.020553 0.000000 0.001917 0.003616 0.000116 0.003720 0.020553 909 15 144 208 0 59 456 3 24 276438 23950 34412 10120 18858 30774 126094 25778 6452 0.000036 0.000000 0.000058 0.000395 0.000000 0.000065 0.000016 0.000000 0.000000 5 0 1 2 0 1 1 0 0 899 15 142 204 0 57 454 3 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8553 4390 12943 41 4 45 0.00477077 0.000910332 0.00346474 0.00477077 0.000910332 0.00346474 47 transition G A G>A 0.000 -2.619 255 PASS . 0.0018 0.01 . 0.0013 . 0.0024 0.011 . 0.003 0.001 . . EME2:NM_001257370:exon6:c.C699T:p.D233D . . 0.43438914 . . @ 96 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 221.0 . . . 0.0009 0.0035 0.0048 0.0009 0.0035 0.0048 . 0.6200 . . . . . . . . 3.277e-03 . . . 0.0006 0.0039 0.0043 0 0 0.0065 0.0014 0.0017 0.0006 0.0032 0.0043 0 0 0.0048 0.0014 0.0016 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.28 0.35 182 ENSG00000197774 EME2 EME2 . . . . . . 159 0.00244706 64976 147 0.00245057 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs139103048 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.003465 . . . . . 0.0009 0.0035 0.0041 0.0205 0 4.487e-05 0.0037 0.0040 0.0019 0.0002 0.0019 0.0060 0.0232 0 0.0006 0.0027 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139103048 rs139103048 1 1538 10 1/0 0,220,245 +rs187219682 16 2025103 A G - TBL3 11587 Transducin (beta)-like 3 NM_006453.2 1 2594 2427 NP_006444.2 Q12788 substitution splice site GRCh37 2025103 2025103 Chr16(GRCh37):g.2025103A>G 635+4 635+4 NM_006453.2:c.635+4A>G p.? p.? 7 7 605915 4 5' 84.3389 7.1624 0.851969 9.27202 74.2583 6.32183 0.268326 7.23011 -0.307312 rs187219682 yes no Frequency/1000G 2 A 0.000000 0 0.002396 0.000800 0.000000 0.000000 0.007000 0.005800 0.001869 0.000459 0.004098 0.000099 0.000000 0.000000 0.002606 0.000443 0.003413 0.004098 515 11 141 1 0 0 329 11 22 275618 23960 34406 10134 18860 30774 126224 24814 6446 0.000022 0.000000 0.000174 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 0 3 0 0 0 0 0 0 509 11 135 1 0 0 329 11 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4389 12966 23 5 28 0.00267442 0.00113792 0.00215484 0.00267442 0.00113792 0.00215484 39 transition A G A>G 0.654 0.367 255 PASS . 0.0023 0.0028 . 0.01 0.0008 0.0024 0.0058 . 0.007 . . . . . . 0.4899329 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . 0.0011 0.0022 0.0027 0.0011 0.0022 0.0027 . I.64 . . . . . . . . 2.069e-03 . . . 0.0007 0.0024 0.0046 0 0 0.0038 0.0029 0 0.0008 0.0021 0.0046 0 0.0002 0.0030 0.0014 0 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.33 0.17 182 ENSG00000183751 TBL3 TBL3 . . . . . . 131 0.00201613 64976 119 0.0019838 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs187219682 . . . . . . . . . . . . . . . . . . . . 0.0946 0.352 . 0.002155 . . . . 2.VI 0.0005 0.0019 0.0040 0.0001 0 0.0005 0.0027 0.0037 0 0.0003 0.0015 0.0095 0 0 0.0003 0.0021 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187219682 rs187219682 1 1538 10 1/0 0,241,255 +rs756987474 16 2035982 G A - GFER 4236 Growth factor, augmenter of liver regeneration NM_005262.2 1 2409 618 NP_005253.3 P55789 substitution missense exon GRCh37 2035982 2035982 Chr16(GRCh37):g.2035982G>A 571 571 NM_005262.2:c.571G>A p.Val191Met p.Val191Met 3 600924 116 3' 84.3288 9.99254 0.896296 15.5565 84.3288 9.99254 0.896296 15.5565 0 Erv1/Alr rs756987474 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245824 15272 33580 9842 17240 30780 111508 22120 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 159 Exomes COSM5850356 Thyroid 0.007576 132 transition G A G>A 0.992 3.353 V Val GTG 0.468 M Met ATG 1.000 191 12 11 C. elegans 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 86.96 0.00 Deleterious 0.04 III.35 bad 1.062E-3 0.001228 255 PASS . . . . . . . . . . . . . GFER:NM_005262:exon3:c.G571A:p.V191M . . 0.45535713 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.589 . @ . . . . . 1 0.871 . . 112.0 . . . . . . . . . . 0.4447 0.326 0.445 c . . . . . 1.580e-05 . . . . . . . . . . . 0 9.419e-06 0 0 0 1.84e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.574 . . exonic exonic exonic . . 0.386 @ . . . . . . ENSG00000127554 GFER GFER . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.673 0.058 . . 37 . 0.739 . . 0.792 . . . 0.803 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.558 . . 0 0 0 0 0 0 . 0.715 . . 0.668 . . . . . . 0 0.357 . . . . . 0.579 . 0.663 . HET 0.04 rs756987474 . . . . . . . . . . . . 13.005 . ENST00000248114 IV.43 III.46 . 0.040000 . . . . . . 0.563 . . III.46 0 4.068e-06 0 0 0 0 8.968e-06 0 0 . . . . . . . . . . 0.854 . 0.958 0.958000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.653 0.803 . 0.783 . 0.449 0.958 0.917 . . . . . 1 1538 10 1/0 0,252,255 +rs79357051 16 2103830 T C - TSC2 12363 Tuberous sclerosis 2 NM_000548.4 1 5734 5424 NP_000539.2 P49815 substitution intron GRCh37 2103830 2103830 Chr16(GRCh37):g.2103830T>C 336+377 336+377 NM_000548.4:c.336+377T>C p.? p.? 4 4 191092 377 5' 94.9812 11.083 0.995169 13.9193 94.9812 11.083 0.995169 13.9193 0 rs79357051 yes no Frequency/1000G 2 not_provided 0.000000 0 0.004193 0.000000 0.002000 0.000000 0.013900 0.007200 0.006587 0.001579 0.005702 0.003625 0.000000 0.007255 0.010179 0.001264 0.009715 0.010179 1006 23 139 29 0 162 599 11 43 152714 14562 24376 8000 11470 22328 58848 8704 4426 0.000039 0.000000 0.000000 0.000000 0.000000 0.000000 0.000068 0.000230 0.000000 3 0 0 0 0 0 2 1 0 1000 23 139 29 0 162 595 9 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000119933.1 germline reference population Not provided 0 not specified transition T C T>C 0.000 -0.360 255 PASS . 0.01 0.01 . 0.01 . 0.0042 0.0072 . 0.014 0.002 . TSC2:uc010uvu.1:exon4:c.T713C:p.L238P . . . 0.45217392 . . germline 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . not//\@provided not_provided RCV000119933.1 not_specified MedGen CN169374 2 . . . 115.0 . . . . . . . . . . 0.0110 . . . . . . . . 3.994e-03 . . . 0.0057 0.0089 0.0125 0 0 0.0063 0 0.0100 0.0057 0.0088 0.0125 0 0 0.0064 0 0.0100 . nonsynonymous_SNV . . . . intronic exonic intronic . . . 0.0042 . . . 0.56 0.15 182 ENSG00000103197 TSC2 TSC2 . . . . . . 523 0.00804913 64976 504 0.00840196 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79357051 0.011 0.007 . . CLINSIG\x3duntested\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000119933.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3duntested\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000119933.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0070 0.0057 0.0036 0 0.0017 0.0108 0.0113 0.0073 0.0015 0.0049 0.0048 0.0033 0 0.0006 0.0084 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs79357051 rs79357051 1 1538 10 1/0 0,254,255 +rs565323545 16 4164830 G C - ADCY9 240 Adenylate cyclase 9 NM_001116.3 -1 7727 4062 NP_001107.2 O60503 substitution missense exon GRCh37 4164830 4164830 Chr16(GRCh37):g.4164830G>C 614 614 NM_001116.3:c.614C>G p.Ser205Cys p.Ser205Cys 2 603302 657 3' 88.711 X.44 0.739625 X.73 88.711 X.44 0.739625 X.73 0 rs565323545 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 0.000036 4 0 0 0 0 0 4 0 0 245868 15272 33574 9840 17240 30776 111420 22264 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes transversion C G C>G 0.992 0.528 S Ser TCC 0.220 C Cys TGC 0.552 205 14 5 Cat -1 -1 -2 I.42 II.75 9.II 5.V 32 55 112 C0 353.86 0.00 Tolerated 0.16 IV.32 unknown 0.0 0.0 255 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000162104:ENST00000294016:exon2:c.C614G:p.S205C ADCY9:uc002cvx.3:exon2:c.C614G:p.S205C ADCY9:NM_001116:exon2:c.C614G:p.S205C . . 0.43069306 . . @ 87 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.280 . . 202.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tGc|S205C|ADCY9|mRNA|CODING|NM_001116|NM_001116.ex.2) . . . . . . . -0.2475 -0.195 -0.247 c . . . . . 7.894e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.286 . . exonic exonic exonic . . 0.272 0.0002 . . . . . . ENSG00000162104 ADCY9 ADCY9 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.113 . . . . T 0.221 0.008 . . 37 . 0.229 . . 0.207 . . . 0.498 0.270 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.255 . . 0 0 0 0 0 0 . 0.333 . . 0.328 . . . . . . 0 0.223 . . . . . 0.159 . 0.495 . HET 0.05 rs565323545 . . . . . . . . . . . . V.69 . ENST00000294016 V.41 II.25 . 0.050000 O60503 . . . . . 0.639 . . II.25 0 1.627e-05 0 0 0 0 3.59e-05 0 0 . . . . . . . . . . 0.994 . 0.646 0.646000 . . 0.050000 . . 1.0E-255 0.979 0.349 . 0.604 0.989 . 0.310 . 0.713 0.646 0.069 . . . . . 1 1538 10 1/0 0,224,252 +rs535358909 16 4562308 C T - CDIP1 13234 Cell death-inducing p53 target 1 NM_001199054.1 -1 2774 627 NP_001185983.1 Q9H305 substitution 3'UTR GRCh37 4562308 4562308 Chr16(GRCh37):g.4562308C>T *265 *265 NM_001199054.1:c.*265G>A p.? p.? 6 610503 377 3' 83.0702 11.0418 0.686648 X.47 83.0702 11.0418 0.686648 X.47 0 New Acceptor Site 4562306 6.56783 0.116033 75.7052 rs535358909 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30956 8724 838 300 1622 0 15000 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.039 0.044 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.36507937 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . . . . . . . . . 0.2799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . . . . ENSG00000089486 CDIP1 CDIP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535358909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.23e-05 0 0 0 0 6.667e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs535358909 16 4562308 C T - HMOX2 5014 Heme oxygenase 2 NM_001286267.1 1 1852 1113 NP_001273196.1 substitution downstream GRCh37 4562308 4562308 Chr16(GRCh37):g.4562308C>T *2551 *2551 NM_001286267.1:c.*2551C>T p.? p.? 7 141251 2679 3' 76.844 VI.01 0.783254 5.77964 76.844 VI.01 0.783254 5.77964 0 rs535358909 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30956 8724 838 300 1622 0 15000 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.039 0.044 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.36507937 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . . . . . . . . . 0.2799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . . . . ENSG00000089486 CDIP1 CDIP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs535358909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.23e-05 0 0 0 0 6.667e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs35239167 16 4803043 C T - ZNF500 23716 Zinc finger protein 500 NM_021646.3 -1 5728 1443 NP_067678.1 O60304 substitution synonymous exon GRCh37 4803043 4803043 Chr16(GRCh37):g.4803043C>T 777 777 NM_021646.3:c.777G>A p.Leu259= p.Leu259Leu 6 17 3' 92.4556 10.0178 0.974977 7.99578 92.4556 10.0178 0.971208 VII.45 -0.00128858 rs35239167 yes no Frequency/1000G 2 C 0.000000 0 0.003594 0.000800 0.007200 0.000000 0.008900 0.001400 0.006269 0.001811 0.001749 0.000923 0.000000 0.004959 0.009688 0.006958 0.006947 0.009688 1295 42 42 4 0 83 997 94 33 206588 23192 24020 4332 17138 16738 102908 13510 4750 0.000087 0.000000 0.000000 0.000000 0.000000 0.000000 0.000136 0.000148 0.000421 9 0 0 0 0 0 7 1 1 1277 42 42 4 0 83 983 92 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8504 4372 12876 74 8 82 0.00862672 0.00182648 0.00632814 0.00862672 0.00182648 0.00632814 42 transition G A G>A 0.000 -1.974 L Leu TTG 0.127 L Leu TTA 0.073 259 255 PASS . 0.0032 . . 0.01 0.0008 0.0036 0.0014 . 0.0089 0.0072 . . . . . 0.5060241 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . . 0.0018 0.0063 0.0086 0.0018 0.0063 0.0086 . -0.2410 . . . . . . . . 6.093e-03 . . . 0.0016 0.0058 0.0011 0 0.0066 0.0091 0.0034 0.0056 0.0017 0.0060 0.0011 0 0.0064 0.0088 0 0.0057 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.29 0.3 182 ENSG00000103199 ZNF500 ZNF500 . . . . . . 545 0.00838771 64976 527 0.00878538 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35239167 . . . . . . . . . . . . . . . . . . . . . . . 0.006328 . . . . . 0.0018 0.0063 0.0016 0.0010 0 0.0071 0.0097 0.0064 0.0050 0.0018 0.0063 0.0060 0 0 0.0066 0.0094 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs35239167 rs35239167 rs35239167 rs35239167 1 1538 10 1/0 0,255,255 +rs139297283 16 4828042 G C - SEPT12 26348 Septin 12 NM_144605.4 -1 1524 1077 NP_653206.2 Q8IYM1 substitution intron GRCh37 4828042 4828042 Chr16(GRCh37):g.4828042G>C 876-43 876-43 NM_144605.4:c.876-43C>G p.? p.? 10 9 611562 -43 3' 75.5229 7.27731 0.302289 5.91284 75.5229 7.27731 0.302289 5.49077 0 rs139297283 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000800 0.000000 0.001000 0.010900 0.015900 0.009262 0.001642 0.006709 0.034359 0.000107 0.002911 0.010337 0.017968 0.013129 0.034359 2540 39 229 346 2 89 1292 459 84 274234 23754 34134 10070 18768 30572 124992 25546 6398 0.000139 0.000000 0.000000 0.000993 0.000000 0.000131 0.000128 0.000313 0.000000 19 0 0 5 0 2 8 4 0 2502 39 229 336 2 85 1276 451 84 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8501 4388 12889 99 4 103 0.0115116 0.000910747 0.00792796 0.0115116 0.000910747 0.00792796 46 transversion C G C>G 0.000 -0.360 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.0048 0.016 0.001 0.011 . . . . . . 0.54545456 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . 0.0009 0.0079 0.011 0.0009 0.0079 0.011 . 0.2032 . . . . . . . . 9.639e-03 . . . 0.0019 0.0091 0.0065 0.0004 0.0167 0.0143 0.0143 0.0035 0.0024 0.0107 0.0065 0 0.0195 0.0156 0.0115 0.0035 . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.23 0.24 182 ENSG00000140623 SEPT12 SEPT12 . . . . . . 611 0.00940347 64976 587 0.00978562 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139297283 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.007928 . . . . . 0.0020 0.0095 0.0067 0.0344 0.0001 0.0179 0.0105 0.0135 0.0029 0.0010 0.0075 0.0060 0.0331 0 0.0183 0.0088 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139297283 rs139297283 1 1538 10 1/0 0,242,255 +rs144847645 16 5046357 C T - SEC14L5 29032 SEC14-like 5 (S. cerevisiae) NM_014692.1 1 6456 2091 NP_055507.1 O43304 substitution synonymous exon GRCh37 5046357 5046357 Chr16(GRCh37):g.5046357C>T 676 676 NM_014692.1:c.676C>T p.Leu226= p.Leu226Leu 7 9 3' 78.8947 7.53369 0.97705 6.51319 78.8947 7.53369 0.977271 6.30516 7.5397e-05 rs144847645 yes no Frequency/1000G 2 C 0.000000 0 0.004193 0.000000 0.001000 0.000000 0.011900 0.011500 0.008373 0.001533 0.006146 0.027624 0.000000 0.002602 0.011485 0.007574 0.010753 0.027624 1600 26 156 239 0 60 912 153 54 191086 16960 25384 8652 12402 23056 79408 20202 5022 0.000188 0.000000 0.000079 0.000925 0.000000 0.000173 0.000227 0.000099 0.000398 18 0 1 4 0 2 9 1 1 1564 26 154 231 0 56 894 151 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8077 3908 11985 93 6 99 0.0113831 0.00153296 0.00819265 0.0113831 0.00153296 0.00819265 22 transition C T C>T 0.984 -0.037 L Leu CTG 0.404 L Leu TTG 0.127 226 255 PASS . 0.0041 0.01 . 0.01 . 0.0042 0.011 . 0.012 0.001 ENSG00000103184:ENST00000251170:exon7:c.C676T:p.L226L SEC14L5:uc002cye.2:exon7:c.C676T:p.L226L SEC14L5:NM_014692:exon7:c.C676T:p.L226L . . 0.42 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 100.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L226|SEC14L5|mRNA|CODING|NM_014692|NM_014692.ex.7) 0.0015 0.0082 0.011 0.0015 0.0082 0.011 . 0.8375 . . . . . . . . 5.443e-03 . . . 0.0014 0.0117 0.0158 0 0.0303 0.0223 0.0051 0.0028 0.0019 0.0136 0.0182 0 0.0132 0.0317 0.0066 0.0028 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0042 . . . 0.11 0.29 182 ENSG00000103184 SEC14L5 SEC14L5 . . . . . . 660 0.0101576 64976 638 0.0106358 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144847645 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.008193 . . . . . 0.0011 0.0086 0.0062 0.0278 0 0.0074 0.0118 0.0116 0.0026 0.0020 0.0070 0.0048 0.0232 0 0.0083 0.0101 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs144847645 rs144847645 1 1538 10 1/0 0,255,255 +rs573391690 16 5078268 C G - NAGPA 17378 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase NM_016256.3 -1 2209 1548 NP_057340.2 Q9UK23 substitution intron GRCh37 5078268 5078268 Chr16(GRCh37):g.5078268C>G 921-82 921-82 NM_016256.3:c.921-82G>C p.? p.? 6 5 607985 -82 3' 79.9735 6.95478 0.614249 XI.28 79.9735 6.95478 0.614249 XI.17 0 rs573391690 yes no Frequency/1000G 2 C 0.000399 G 2 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000035 0.000000 0.000000 0.000000 0.000000 0.000000 0.000091 0.000000 0.000000 0.000091 6 0 0 0 0 0 6 0 0 171130 15576 24642 8306 11690 22592 65900 17748 4676 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.117 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.5132743 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . INTRON(MODIFIER||||NAGPA|mRNA|CODING|NM_016256|) . . . . . . . -0.1353 . . . . . . . . 4.564e-05 . . . 0 7.005e-05 0 0 0 0.0002 0 0 0 8.214e-05 0 0 0 0.0003 0 0 . . . . . . ncRNA_intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000267072 NAGPA NAGPA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs573391690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.56e-05 0 0 0 0 9.794e-05 0 0 0 3.259e-05 0 0 0 0 6.736e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 7629766 C T - RBFOX1 18222 RNA binding protein, fox-1 homolog (C. elegans) 1 NM_001308117.1 1 1684 1278 NP_001295046.1 substitution intron GRCh37 7629766 7629766 Chr16(GRCh37):g.7629766C>T 400-13 400-13 NM_001308117.1:c.400-13C>T p.? p.? 6 5 605104 -13 3' 85.0232 8.62726 0.978632 X.34 87.2224 8.57717 0.989403 X.49 0.0103553 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245424 15286 33554 9812 17224 30772 111050 22262 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition C T C>T 0.717 1.255 255 PASS . . . . . . . . . . . . . . . . 0.5263158 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . I.83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000078328 RBFOX1 RBFOX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.86 0 8.149e-06 0 0 0 0 1.801e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs764698987 16 10851750 C T - NUBP1 8041 Nucleotide binding protein 1 NM_002484.3 1 1287 963 NP_002475.2 P53384 substitution stop gain exon GRCh37 10851750 10851750 Chr16(GRCh37):g.10851750C>T 472 472 NM_002484.3:c.472C>T p.Arg158* p.Arg158* 7 600280 21 3' 87.0458 9.1792 0.988049 7.47492 87.0458 9.1792 0.988049 7.06916 0 CobQ/CobB/MinD/ParA nucleotide binding domain ATPase MipZ/NubP2/Cfd1 AAA+ ATPase domain P-loop containing nucleoside triphosphate hydrolase rs764698987 yes no Frequency 1 C 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246198 15304 33582 9844 17248 30782 111670 22286 5482 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 67 Exomes transition C T C>T 0.843 1.900 R Arg CGA 0.110 * * TGA 0.489 158 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.985 . @ . . . . . 0 0.886 . . 92.0 . . . . . . . . . . 0.8924 0.730 0.892 c . . . . . 7.892e-06 . . . 0 1.103e-05 0 0 0 2.376e-05 0 0 0 9.419e-06 0 0 0 1.841e-05 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.672 @ . . . . . . ENSG00000103274 NUBP1 NUBP1 . . . 0.959 0.284 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.759 . . . LowAF 0.52 rs764698987 . . . . . . . . . . . . 15.5632 . . 5.IV 5.IV . 0.380000 . . . Name\x3dnsv833140 . . 0.520 . . 5.IV 0 4.062e-06 0 0 0 0 8.955e-06 0 0 . . . . . . . . . . 0.924 . 2.339 2.339000 . . 0.380000 . . 1.0E-188 0.996 0.391 . 0.494 0.993 . 0.521 . 0.362 2.339 0.871 . . . . . 1 1538 10 1/0 0,232,255 +rs72650683 16 11038558 G T - CLEC16A 29013 C-type lectin domain family 16, member A NM_015226.2 1 6891 3162 NP_056041.1 Q2KHT3 substitution 5'UTR GRCh37 11038558 11038558 Chr16(GRCh37):g.11038558G>T -17 -17 NM_015226.2:c.-17G>T p.? p.? 1 611303 -97 5' 83.5016 9.09532 0.987792 12.064 83.5016 9.09532 0.987792 12.064 0 rs72650683 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.003944 0.000678 0.001230 0.000429 0.000000 0.000072 0.005198 0.014809 0.003130 0.014809 949 14 40 4 0 2 547 324 18 240644 20664 32520 9328 17472 27806 105226 21878 5750 0.000050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000038 0.000366 0.000000 6 0 0 0 0 0 2 4 0 937 14 40 4 0 2 543 316 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8070 3799 11869 28 1 29 0.00345764 0.000263158 0.00243738 0.00345764 0.000263158 0.00243738 10 transversion G T G>T 0.000 0.125 255 PASS . . . . . . 0.001 0.0014 . 0.004 . . . . . . 0.43055555 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . 0.0003 0.0024 0.0035 0.0003 0.0024 0.0035 . 0.9438 . . . . . . . . 3.537e-03 . . . 0.0003 0.0036 0.0017 0 0.0304 0.0059 0.0062 9.414e-05 0.0006 0.0059 0.0015 0 0.0309 0.0095 0.0099 9.443e-05 . . . . . . UTR5 UTR5 UTR5 . . . 0.0010 . . . 0.59 0.5 182 ENSG00000038532 CLEC16A CLEC16A . . . . . . 259 0.00398609 64976 254 0.00423432 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72650683 . . . . . . . . . . . . . . . . . . . . . . . 0.002437 . . . . . 0.0008 0.0040 0.0012 0.0004 0 0.0149 0.0054 0.0031 7.193e-05 0.0006 0.0038 0.0012 0 0 0.0143 0.0039 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0035 . rs72650683 rs72650683 rs72650683 1 1538 10 1/0 0,255,255 +rs79803820 (chr16:11537347 A/G) 16 11537347 A G Not on a known gene +rs773679663 16 11643256 G A - LITAF 16841 Lipopolysaccharide-induced TNF factor NM_001136472.1 -1 2471 486 NP_001129944.1 Q99732 substitution 3'UTR GRCh37 11643256 11643256 Chr16(GRCh37):g.11643256G>A *237 *237 NM_001136472.1:c.*237C>T p.? p.? 4 603795 346 3' 88.6065 13.532 0.993686 13.7573 88.6065 13.532 0.993686 13.7573 0 rs773679663 yes no Frequency 1 G 0.000000 0 0.000030 0.000000 0.000000 0.000000 0.000347 0.000000 0.000015 0.000000 0.000000 0.000347 5 0 0 0 4 0 1 0 0 165862 14994 24588 8358 11542 22554 68764 10378 4684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.47826087 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 69.0 . . . . . . . . . . 0.0323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . . . . ENSG00000189067 LITAF LITAF . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773679663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.224e-05 0 0 0.0003 0 0 0 0 0 6.455e-05 0 0 0.0006 0 6.662e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs373445989 16 11647456 C T - LITAF 16841 Lipopolysaccharide-induced TNF factor NM_001136472.1 -1 2471 486 NP_001129944.1 Q99732 substitution missense exon GRCh37 11647456 11647456 Chr16(GRCh37):g.11647456C>T 310 310 NM_001136472.1:c.310G>A p.Val104Met p.Val104Met 3 603795 -68 5' 83.6222 7.93332 0.979426 7.99866 83.6222 7.93332 0.979426 7.66996 0 LPS-induced tumor necrosis factor alpha factor rs373445989 yes no Frequency 1 C 0.000000 0 0.000040 0.000167 0.000029 0.000000 0.000000 0.000000 0.000040 0.000000 0.000155 0.000167 11 4 1 0 0 0 5 0 1 276984 24020 34416 10146 18870 30776 126524 25768 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 4 1 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4393 12993 0 1 1 0 0.000227583 7.69586e-05 0 0.000227583 7.69586e-05 76 transition G A G>A 0.984 0.851 V Val GTG 0.468 M Met ATG 1.000 104 12 10 Chicken 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 69.84 20.52 Deleterious 0.03 III.40 good 1.128E-2 0.01227 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.769 . @ . . . . . 1 0.906 . . 130.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . 0.0840 0.075 0.084 c . . . . . 2.368e-05 . . . 0 3.318e-05 0 0 0 7.144e-05 0 0 0 9.456e-06 0 0 0 1.843e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.885 . . exonic exonic exonic . . 0.379 @ . . . 0.35 0.47 182 ENSG00000189067 LITAF LITAF . . . 1.000 0.462 . . . . . . . Uncertain_significance . 0 . 0.392 . . . . D 0.818 0.135 . . 37 . 0.895 . . 0.855 . . . 0.453 0.810 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.429 . . 0 0 0 0 0 0 . 0.899 . . 0.697 . . . . . . 0 0.682 . . . . . 0.168 . 0.481 . HET 0.01 rs373445989 . . . . . . . . . . . . V.63 . . V.39 3.IV . 0.250000 . . . . 0.000077 . 0.345 . . 3.IV 0.0002 4.065e-05 2.978e-05 0 0 0 4.484e-05 0.0002 0 0.0001 3.23e-05 0 0 0 0 0 0 . . 0.730 . 0.627 0.627000 . . 0.250000 . . 1.0E-255 0.995 0.385 . 0.653 0.992 . 0.491 . 0.490 0.627 0.871 0.0002 . . rs373445989 rs373445989 1 1538 10 1/0 0,240,255 +. 16 12021615 G C - NPIPB2 37451 Nuclear pore complex interacting protein family, member B2 NM_001355514.1 -1 1412 672 NP_001342443.1 substitution missense exon GRCh37 12021615 12021615 Chr16(GRCh37):g.12021615G>C 287 287 NM_001355514.1:c.287C>G p.Ser96Cys p.Ser96Cys 9 122 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 0.001734 0.002386 0.003252 0.000000 0.012256 0.001439 0.000244 0.000618 0.001096 0.012256 380 44 90 0 166 40 25 9 6 219170 18438 27678 9252 13544 27796 102436 14554 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 380 44 90 0 166 40 25 9 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -14.080 S Ser TCT 0.185 C Cys TGT 0.448 96 5 3 Western lowland gorilla -1 -1 -2 I.42 II.75 9.II 5.V 32 55 112 C0 353.86 0.00 Deleterious 0 IV.32 177 PASS . . . . . . . . . . . . . . . . 0.106529206 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.153 . @ . . . . . 3 0.100 . . 291.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3470 -0.507 -0.347 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.565 . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000234719 . . . dist\x3d11096\x3bdist\x3d37349 dist\x3d11096\x3bdist\x3d37349 0.000 0.012 . . . . . . . . . 0 . . . . . . D 0.674 0.058 . . 37 . 0.608 . . 0.736 . . . . . . . . . . . . . . . . . . . . 0.543 . . . . . . 0 . . . . . . . . . . . . . 0.395 . . . . . . . 0.137 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.021 . . . 0.0019 0.0017 0.0033 0 0.0126 0.0003 0.0002 0.0013 0.0014 0.0031 0.0019 0.0029 0 0.0087 0.0019 0.0006 0 . . 0.558 . . . . . 0.000000 . . 1.0E-177 0.291 0.250 . 0.248 . . 0.144 . 0.193 . . . . . . . 1 1538 10 1/0 0,181,255 +. 16 12023215 T C - NPIPB2 37451 Nuclear pore complex interacting protein family, member B2 NM_001355514.1 -1 1412 672 NP_001342443.1 substitution intron GRCh37 12023215 12023215 Chr16(GRCh37):g.12023215T>C 129+27 129+27 NM_001355514.1:c.129+27A>G p.? p.? 7 7 27 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.70519 0 0.000039 0.000000 0.000259 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000259 1 0 1 0 0 0 0 0 0 25754 2900 3856 644 3632 3568 10092 340 722 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 59 Exomes transition A G A>G 0.154 0.044 204 PASS . . . . . . . . . . . . . . . . 0.16981132 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 159.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . 0.66 0.4 182 ENSG00000234719 . . . dist\x3d12696\x3bdist\x3d35749 dist\x3d12696\x3bdist\x3d35749 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.883e-05 0.0003 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs113663049 rs113663049 1 1538 10 1/0 0,212,255 +rs77940121 16 12297160 T C - SNX29 30542 Sorting nexin 29 NM_032167.4 1 8175 2442 NP_115543.3 Q8TEQ0 substitution intron GRCh37 12297160 12297160 Chr16(GRCh37):g.12297160T>C 1678+3620 1678+3620 NM_032167.4:c.1678+3620T>C p.? p.? 14 14 3620 5' 90.3122 9.15773 0.97306 VIII.33 90.3122 9.15773 0.97306 VIII.33 0 rs77940121 yes no Frequency 1 C 0.000000 0 0.004071 0.001177 0.006494 0.017241 0.004505 0.000000 0.005695 0.020362 0.000000 0.020362 33 5 1 1 2 0 15 9 0 8106 4248 154 58 444 0 2634 442 126 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 5 1 1 2 0 15 9 0 0 0 0 0 0 0 0 0 0 RF 186 Genomes transition T C T>C 0.205 -1.328 238 PASS . . . . . . . . . . . . . . . . 0.27645788 . . @ 128 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 463.0 . . INTRON(MODIFIER||||SNX29|mRNA|CODING|NM_032167|) . . . . . . . -0.7453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.27 182 ENSG00000048471 SNX29 SNX29 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77940121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0041 0.0065 0.0172 0.0045 0.0204 0.0057 0 . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . rs77940121 rs77940121 1 1538 10 1/0 0,177,243 +rs76017374 16 12297195 G A - SNX29 30542 Sorting nexin 29 NM_032167.4 1 8175 2442 NP_115543.3 Q8TEQ0 substitution intron GRCh37 12297195 12297195 Chr16(GRCh37):g.12297195G>A 1678+3655 1678+3655 NM_032167.4:c.1678+3655G>A p.? p.? 14 14 3655 5' 90.3122 9.15773 0.97306 VIII.33 90.3122 9.15773 0.97306 VIII.33 0 rs76017374 no no 0 G 0.000000 0 0.007559 0.001799 0.042373 0.035714 0.003086 0.000000 0.013714 0.034759 0.019231 0.042373 54 8 5 1 1 0 24 13 2 7144 4446 118 28 324 0 1750 374 104 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 8 5 1 1 0 24 13 2 0 0 0 0 0 0 0 0 0 RF 263 Genomes transition G A G>A 0.000 -1.328 235 PASS . . . . . . . . . . . . . . . . 0.2552504 . . @ 158 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 619.0 . . INTRON(MODIFIER||||SNX29|mRNA|CODING|NM_032167|) . . . . . . . -0.7109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.3 182 ENSG00000048471 SNX29 SNX29 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76017374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0076 0.0424 0.0357 0.0031 0.0348 0.0137 0.0192 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs76017374 rs76017374 1 1538 10 1/0 0,161,217 +rs7188380 16 12297247 A G - SNX29 30542 Sorting nexin 29 NM_032167.4 1 8175 2442 NP_115543.3 Q8TEQ0 substitution intron GRCh37 12297247 12297247 Chr16(GRCh37):g.12297247A>G 1678+3707 1678+3707 NM_032167.4:c.1678+3707A>G p.? p.? 14 14 3707 5' 90.3122 9.15773 0.97306 VIII.33 90.3122 9.15773 0.97306 VIII.33 0 rs7188380 no no 0 A 0.000000 0 transition A G A>G 0.657 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.48595506 . . @ 346 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 712.0 . . INTRON(MODIFIER||||SNX29|mRNA|CODING|NM_032167|) . . . . . . . -0.8221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.32 182 ENSG00000048471 SNX29 SNX29 . . . . . . 30364 0.467311 64976 28256 0.471043 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7188380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62038338 rs7188380 rs7188380 rs7188380 1 1538 10 1/0 0,174,193 +rs113935526 16 14339497 T C - MKL2 29819 MKL/myocardin-like 2 NM_001308142.1 1 8815 3300 NP_001295071.1 substitution missense exon GRCh37 14339497 14339497 Chr16(GRCh37):g.14339497T>C 1192 1192 NM_001308142.1:c.1192T>C p.Ser398Pro p.Ser398Pro 11 609463 -21 5' 77.3061 V.33 0.33306 2.47099 77.3061 V.33 0.33306 2.73414 0 rs113935526 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.002300 0.000000 0.000000 0.002000 0.001400 0.004577 0.000625 0.005592 0.005366 0.000000 0.000331 0.006810 0.003377 0.006992 0.006810 1261 15 190 54 0 10 860 87 45 275486 23996 33976 10064 18792 30166 126290 25766 6436 0.000058 0.000000 0.000059 0.000000 0.000000 0.000000 0.000063 0.000155 0.000311 8 0 1 0 0 0 4 2 1 1245 15 188 54 0 10 852 83 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4391 12933 58 3 61 0.00674419 0.000682749 0.00469447 0.00674419 0.000682749 0.00469447 151 transition T C T>C 0.992 0.528 S Ser TCT 0.185 P Pro CCT 0.283 398 12 10 Frog -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 99.44 0.00 Tolerated 0.15 III.70 255 PASS 0.0041 0.0009 . . . 0.0023 0.0012 0.0014 . 0.002 . . . . . . 0.6122449 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.358 . @ . . . . . 1 0.581 . . 49.0 . . . 0.0007 0.0047 0.0067 0.0007 0.0047 0.0067 . -0.5372 -0.329 -0.537 c . . . . . 4.791e-03 . . . 0.0009 0.0043 0.0093 0 0.0021 0.0060 0.0056 0.0002 0.0008 0.0048 0.0095 0 0.0021 0.0069 0.0058 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.290 0.0012 . . . 0.38 0.25 182 ENSG00000186260 MKL2 MKL2 . . . 1.000 0.434 . 307 0.00472482 64976 301 0.00501784 59986 Benign . 0 . 0.559 . . . . T 0.211 0.008 . . 37 . 0.204 . . 0.038 . . . 0.235 0.504 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.264 . . 0 0 0 0 0 0 . 0.147 . . 0.133 . . . . . . 0 0.323 . . . . . 0.336 . 0.250 . HET 0.08 rs113935526 . . . . . . . 9.157509157509158E-4 0.0040650406504065045 0.0 0.0 0.0 VIII.76 5.35E-4 . V.88 II.47 . 0.570000 . . . . 0.004694 . 0.500 . . II.47 0.0006 0.0047 0.0056 0.0052 0 0.0035 0.0070 0.0077 0.0003 0.0007 0.0033 0.0060 0.0099 0 0.0023 0.0052 0.0031 . . 0.310 . 0.483 0.483000 . . 0.570000 . . 1.0E-255 1.000 0.715 . 0.750 0.998 . 0.297 . 0.807 0.483 0.991 0.0067 . . rs113935526 rs113935526 1 1538 10 1/0 0,255,255 +rs201173374 16 14820094 A G - NPIPA3 41978 Nuclear pore complex interacting protein family, member A3 NM_001277323.1 1 1098 1053 NP_001264252.1 F8WFD2 substitution missense exon GRCh37 14820094 14820094 Chr16(GRCh37):g.14820094A>G 997 997 NM_001277323.1:c.997A>G p.Lys333Glu p.Lys333Glu 8 355 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 rs201173374 yes no Frequency 1 0.000000 0 0.006649 0.003132 0.022059 0.000000 0.000000 0.000000 0.025641 0.000000 0.000000 0.025641 10 3 3 0 0 0 4 0 0 1504 958 136 20 46 166 156 0 22 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 3 3 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -14.080 K Lys AAG 0.575 E Glu GAG 0.583 333 1 1 1 0.33 0.92 11.III 12.III 119 83 56 255 PASS . . . . . . . . . . . . LOC642778:uc002dcr.4:exon8:c.A997G:p.K333E . . . 0.42857143 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.034 . . 14.0 . . . . . . . . . . -0.4017 -0.449 -0.402 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . . @ . . . 0.39 0.31 182 ENSG00000224712 LOC642778 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.679 0.060 . . 37 . 0.174 . . 0.212 . . . 0.004 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.006 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.062 . HET 1 rs201173374 . . . . . . . . . . . . . . . . . . 0.000000 F8WFD2 . . . . . 0.007 . . . 0.0044 0.0082 0.0221 0 0 . 0.0270 0 0 0 0 . . 0 . 0 0 . . 0.428 . . . . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.090 . . 0.031 . 0.017 . . . rs1059222 rs1059222 rs1059222 rs1059222 1 1538 10 1/0 0,0,0 +. 16 14860401 G A - NPIPA2 41979 Nuclear pore complex interacting protein family, member A2 NM_001277324.1 1 1088 1053 NP_001264253.1 F8WFD2 substitution downstream GRCh37 14860401 14860401 Chr16(GRCh37):g.14860401G>A *1131 *1131 NM_001277324.1:c.*1131G>A p.? p.? 8 1542 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 Cryptic Donor Strongly Activated 14860398 0.006768 65.3785 4.19614 0.061518 69.7409 0.001719 0.002551 0.007937 0.021277 0.000000 0.000000 0.000885 0.000000 0.000000 0.021277 15 8 1 2 0 0 4 0 0 8724 3136 126 94 374 0 4520 266 208 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 8 1 2 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition G A G>A 0.000 -0.602 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . . . . . . . . . -0.3388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . . . . ENSG00000255037 . . . dist\x3d1086\x3bdist\x3d55888 dist\x3d1086\x3bdist\x3d55888 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0017 0.0079 0.0213 0 0 0.0009 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201084206 16 15045628 T C - NPIPA1 7909 Nuclear pore complex interacting protein family member A1 NM_006985.3 1 1088 1053 NP_008916.2 Q9UND3 substitution missense exon GRCh37 15045628 15045628 Chr16(GRCh37):g.15045628T>C 799 799 NM_006985.3:c.799T>C p.Ser267Pro p.Ser267Pro 8 606406 157 3' 90.4337 XI.63 0.961149 7.07535 90.4337 XI.63 0.961149 7.07535 0 rs201084206 yes no Frequency 1 0.000000 0 0.000395 0.000564 0.000280 0.000104 0.000646 0.000365 0.000377 0.000209 0.001254 0.000646 90 12 8 1 8 9 42 3 7 227806 21266 28596 9622 12380 24654 111326 14382 5580 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 90 12 8 1 8 9 42 3 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.031 -1.651 S Ser TCC 0.220 P Pro CCC 0.328 267 4 1 -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.35 IV.32 178 PASS . . . . . . . . . . . ENSG00000183426:ENST00000328085:exon8:c.T799C:p.S267P NPIP:uc002dcy.4:exon8:c.T799C:p.S267P NPIPA1:NM_006985:exon8:c.T799C:p.S267P . . 0.10843374 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.002 . . 166.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S267P|NPIPA1|mRNA|CODING|NM_006985|NM_006985.ex.8) . . . . . . . -2.1425 -2.150 -2.142 c . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.250 . . exonic exonic exonic . . . @ . . . 0.42 0.35 182 ENSG00000183426 NPIP NPIPA1 . . . 0.000 0.050 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.050 0.002 . . 37 . 0.043 . . 0.190 . . . 0.002 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.163 . LowAF 1 rs201084206 . . . . . . . . . . . . . . . . . . 1.000000 Q9UND3 . . . . . 0.002 . . . 7.33e-05 0.0002 0.0003 0.0001 0.0007 0 0.0002 0.0008 0.0004 0.0014 0.0017 0.0014 0 0 0.0011 0.0021 0.0039 . . 0.558 . -1.660 -1.660000 . . 1.000000 . . 1.0E-178 0.000 0.063 . 0.016 . . 0.030 . 0.019 -1.660 . . rs16953331 rs16953331 rs16953331 rs16953331 1 1538 10 1/0 0,205,255 +rs71232880 16 15069202 T C - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 substitution intron GRCh37 15069202 15069202 Chr16(GRCh37):g.15069202T>C 21+125 21+125 NM_015027.3:c.21+125T>C p.? p.? 1 1 614244 125 5' 79.0255 6.15955 0.731091 9.72577 79.0255 6.15955 0.731091 9.72577 0 rs71232880 no no 0 0.000000 0 0.001199 0.000955 0.004065 0.000000 0.002886 0.000000 0.000914 0.001813 0.001109 0.004065 35 8 3 0 4 0 13 6 1 29190 8374 738 264 1386 0 14216 3310 902 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 8 3 0 4 0 13 6 1 0 0 0 0 0 0 0 0 0 RF 71 Genomes transition T C T>C 0.000 -0.763 191 PASS . . . . . . . . . . . . . . . . 0.13812155 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 181.0 . . . . . . . . . . 0.8142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.22 182 ENSG00000179889 PDXDC1 PDXDC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs71232880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0012 0.0041 0 0.0029 0.0018 0.0009 0.0011 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . rs71232880 rs71232880 rs71232880 1 1538 10 1/0 0,204,255 +rs879123988 16 15198328 A T - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 substitution downstream GRCh37 15198328 15198328 Chr16(GRCh37):g.15198328A>T *68196 *68196 NM_015027.3:c.*68196A>T p.? p.? 23 614244 68456 3' 83.1473 10.421 0.977239 2.57789 83.1473 10.421 0.977239 2.57789 0 rs879123988 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 124538 16430 15022 3688 11170 14340 54280 6492 3116 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.079 0.044 184 PASS . . . . . . . . . . . . . . . . 0.12096774 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.8005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188599 PDXDC1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000534799 . . . 0.030000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . 0.064 0.064000 . . 0.030000 . . 9.999999999999999E-185 . . . . . . . . . 0.064 . . . . . . 1 1538 10 1/0 0,219,255 +. 16 15198329 CTCG C - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 deletion downstream GRCh37 15198330 15198332 Chr16(GRCh37):g.15198330_15198332del *68198 *68200 NM_015027.3:c.*68198_*68200del p.? p.? 23 614244 68458 3' 83.1473 10.421 0.977239 2.57789 83.1473 10.421 0.977239 2.57789 0 rs879049345 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123332 10526 19704 4908 11228 17046 51586 5196 3138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 148 Exomes TCG 255 Pass . . . . . . . . . . . . . . . . 0.12096774 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic ncRNA_intronic . . . . . . . . . . ENSG00000188599 PDXDC1 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,92 +. 16 15198400 C CG - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 duplication downstream GRCh37 15198402 15198403 Chr16(GRCh37):g.15198402dup *68270 *68270 NM_015027.3:c.*68270dup p.? p.? 23 614244 68530 3' 83.1473 10.421 0.977239 2.57789 83.1473 10.421 0.977239 2.57789 0 rs372111052 yes no Frequency 1 0.000000 0 0.000063 0.000096 0.000121 0.000214 0.000000 0.000000 0.000051 0.000000 0.000331 0.000214 16 2 4 2 0 0 6 0 2 252852 20852 33174 9358 17952 30060 118324 17096 6036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 4 2 0 0 6 0 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.10738255 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 149 . . . . . . . . . . . . . . . . . . . 7.510e-04 . . . 0.0001 0.0007 0.0005 0 0.0008 0.0012 0 0.0004 0.0001 0.0007 0.0005 0 0.0008 0.0010 0 0.0004 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . . . . . . . . ENSG00000188599 FLJ00285 PKD1P6 . uc002ddh.2:c.*228_*229insC . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs372111052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 7.153e-05 0.0001 0.0002 0 0 5.77e-05 0.0004 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,97 +rs62039524 16 15198524 T C - PDXDC1 28995 Pyridoxal-dependent decarboxylase domain containing 1 NM_015027.3 1 4659 2367 NP_055842.2 Q6P996 substitution downstream GRCh37 15198524 15198524 Chr16(GRCh37):g.15198524T>C *68392 *68392 NM_015027.3:c.*68392T>C p.? p.? 23 614244 68652 3' 83.1473 10.421 0.977239 2.57789 83.1473 10.421 0.977239 2.57789 0 rs62039524 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000008 1 0 0 0 0 0 1 0 0 262494 22820 34312 9994 18646 30740 123618 16064 6300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.047 0.125 174 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.10135135 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 148.0 . . . . . . . . . . -0.8017 . . . . . . . . 1.623e-05 . . . 0 1.192e-05 0 0 0 2.63e-05 0 0 0 9.868e-06 0 0 0 1.932e-05 0 0 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . 0.0004 . . . 0.24 0.19 182 ENSG00000188599 FLJ00285 PKD1P6 . uc002ddh.2:c.*105A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . rs62039524 . . . . . . . . . . . . . . ENST00000534799 0.131 0.131 . 0.830000 F8WBI2 . . . . . . . . . 0 4.316e-06 0 0 0 0 9.201e-06 0 0 0 0 0 0 0 0 0 0 . . . . 0.148 0.148000 . . 0.830000 . . 1.0E-174 . . . . . . . . . 0.148 . . rs62039524 rs62039524 rs62039524 rs62039524 1 1538 10 1/0 0,209,255 +. 16 15471939 C G - NPIPA5 41980 Nuclear pore complex interacting protein family member A5 NM_001277325.1 -1 1088 1053 NP_001264254.1 E9PKD4 substitution intron GRCh37 15471939 15471939 Chr16(GRCh37):g.15471939C>G 63+150 63+150 NM_001277325.1:c.63+150G>C p.? p.? 1 1 150 5' 71.4086 5.84705 0.275879 0 71.4086 5.84705 0.275879 0 0 0.000581 0.001627 0.000000 0.000000 0.000000 0.000000 0.000077 0.000589 0.000000 0.001627 16 13 0 0 0 0 1 2 0 27546 7988 782 224 1252 0 13036 3394 870 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 13 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transversion G C G>C 0.606 0.125 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . INTRON(MODIFIER||||NPIPA5|mRNA|CODING|NM_001277325|) . . . . . . . -0.0157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.13 182 ENSG00000183793 LOC100288332 NPIPA5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0006 0 0 0 0.0006 7.671e-05 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs62038527 rs62038527 rs62038527 rs62038527 1 1538 10 1/0 0,255,255 +rs144938295 16 15967469 C T - FOPNL 26435 FGFR1OP N-terminal like NM_001304499.1 -1 2382 597 NP_001291428.1 substitution synonymous exon GRCh37 15967469 15967469 Chr16(GRCh37):g.15967469C>T 399 399 NM_001304499.1:c.399G>A p.Gly133= p.Gly133Gly 5 617149 16 3' 81.2234 IX.41 0.778773 4.51596 81.2234 IX.41 0.856099 4.74332 0.0330974 rs144938295 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.002607 0.000208 0.000582 0.006116 0.000000 0.000000 0.004031 0.003996 0.003408 0.006116 721 5 20 62 0 0 509 103 22 276614 24020 34360 10138 18858 30742 126264 25776 6456 0.000043 0.000000 0.000000 0.000197 0.000000 0.000000 0.000063 0.000078 0.000000 6 0 0 1 0 0 4 1 0 709 5 20 60 0 0 501 101 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4393 12970 23 1 24 0.00267442 0.000227583 0.00184701 0.00267442 0.000227583 0.00184701 62 transition G A G>A 0.984 -0.279 G Gly GGG 0.250 G Gly GGA 0.246 133 255 PASS 0.002 0.0023 . . 0.01 . 0.0004 . . 0.002 . ENSG00000133393:ENST00000573087:exon3:c.G242A:p.G81E FOPNL:uc002dec.1:exon4:c.G327A:p.G109G . . . 0.6756757 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 37.0 . . . 0.0002 0.0018 0.0027 0.0002 0.0018 0.0027 . 0.7315 . . . . . . . . 2.628e-03 . . . 0.0003 0.0023 0.0009 0 0.0039 0.0043 0 0 0.0003 0.0022 0.0009 0 0.0045 0.0035 0 0 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.28 0.35 182 ENSG00000133393 FOPNL FOPNL . . . . . . 142 0.00218542 64976 140 0.00233388 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs144938295 . . . . . . . . . . . . . . . . . . . . . . . 0.001847 . . . . . 0.0003 0.0024 0.0005 0.0060 0 0.0041 0.0036 0.0031 0 0.0001 0.0043 0.0036 0.0099 0 0.0034 0.0072 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144938295 rs144938295 1 1538 10 1/0 0,255,255 +. 16 16219596 G GAA - ABCC1 51 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996.3 1 6564 4596 NP_004987.2 P33527 duplication intron GRCh37 16219603 16219604 Chr16(GRCh37):g.16219602_16219603dup 3718-65 3718-64 NM_004996.3:c.3718-65_3718-64dup p.? p.? 26 25 158343 -63 3' 88.2608 9.99871 0.951786 X.74 88.2608 9.99871 0.951786 X.41 0 rs113369901 yes no Frequency/1000G 2 0.222444 AA 1114 0.222444 0.042400 0.283200 0.390900 0.264400 0.174400 AA 255 Pass . . . . . 0.042 0.22 0.17 0.39 0.26 0.28 . . . . . 0.8245614 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 57 . . INTRON(MODIFIER||||ABCC1|mRNA|CODING|NM_004996|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000103222 ABCC1 ABCC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs113369901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113369901 rs113369901 1 1538 10 1.I 0,7,8 +rs397851 16 16360410 A T - NOMO3 25242 NODAL modulator 3 NM_001004067.3 1 4316 3669 NP_001004067.1 P69849 substitution intron GRCh37 16360410 16360410 Chr16(GRCh37):g.16360410A>T 1807-491 1807-491 NM_001004067.3:c.1807-491A>T p.? p.? 16 15 609159 -491 3' 82.7115 8.89958 0.805941 6.63151 82.7115 8.89958 0.805941 6.63151 0 Cryptic Acceptor Strongly Activated 16360420 6.03164 0.082619 83.4508 8.58753 0.486455 89.2986 rs397851 yes no Frequency 1 0.000000 0 0.000197 0.000611 0.000437 0.000000 0.000000 0.000077 0.000136 0.000000 0.000323 0.000611 20 5 7 0 0 1 6 0 1 101728 8178 16022 5450 6056 12922 44160 5848 3092 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 5 7 0 0 1 6 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.279 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||NOMO3|mRNA|CODING|NM_001004067|) . . . . . . . -0.3223 . . . . . . . . 1.347e-04 . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.17 182 ENSG00000103226 NOMO3 NOMO3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374519165 0.370 0.428 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0002 0.0005 0 0 0 0.0002 0.0004 7.739e-05 0.0004 9.682e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.37 rs397851 rs397851 rs397851 rs374519165 1 1538 255 1.I 0,0,255 +. 16 16388513 T C - NOMO3 25242 NODAL modulator 3 NM_001004067.3 1 4316 3669 NP_001004067.1 P69849 substitution 3'UTR GRCh37 16388513 16388513 Chr16(GRCh37):g.16388513T>C *357 *357 NM_001004067.3:c.*357T>C p.? p.? 31 609159 489 3' 83.3775 XI.86 0.981382 14.7859 83.3775 XI.86 0.981382 14.7859 0 transition T C T>C 0.000 -0.037 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.089 . @ . . . . . 2 0.040 . . 228.0 . . UTR_3_PRIME(MODIFIER||||NOMO3|mRNA|CODING|NM_001004067|NM_001004067.ex.31) . . . . . . . -1.4813 -1.523 -1.481 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.039 . . exonic exonic UTR3 . . 0.195 @ . . . 0.59 0.72 182 ENSG00000103226 NOMO3 NOMO3 . . NM_001004067:c.*357T>C 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.107 0.004 . . 37 . 0.020 . . 0.469 . . . . 0.090 . . . . . . . . . . . . . . . 0.063 . . . . . . 0 . . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.197 . 0.137 . LowAF 0 . . . . . . . . . . . . . VI.08 . . III.21 1.I . 1.000000 F5H826 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.269 -0.269000 . . 1.000000 . . 1.0E-176 0.000 0.063 . 0.043 0.015 . 0.062 . 0.126 -0.269 0.002 . rs1062375 rs1062375 rs1062375 rs1062375 1 1538 10 1/0 0,191,255 +. 16 16420869 G T - PKD1P1 30065 Polycystic kidney disease 1 (autosomal dominant) pseudogene 1 NR_036447.1 1 6295 0 substitution splice site GRCh37 16420869 16420869 Chr16(GRCh37):g.16420869G>T 3322+3 3322+3 NR_036447.1:n.3322+3G>T p.? p.? 16 16 3 5' 67.1376 6.45937 0.693227 XII.73 61.6243 0.0769731 0.278228 8.23719 -0.556283 transversion G T G>T 0.858 1.497 203 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 78.0 . . . . . . . . . . 0.6073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000244257 PKD1P1 PKD1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.XI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 16 16422789 C T - PKD1P1 30065 Polycystic kidney disease 1 (autosomal dominant) pseudogene 1 NR_036447.1 1 6295 0 substitution intron GRCh37 16422789 16422789 Chr16(GRCh37):g.16422789C>T 3943-56 3943-56 NR_036447.1:n.3943-56C>T p.? p.? 19 18 -56 3' 87.6609 XII.77 0.994527 XI.12 87.6609 XII.77 0.994527 XI.81 0 16422792 -13.8503 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 202 14 14 0 2 0 28 134 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 463 Genomes transition C T C>T 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.4901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic downstream ncRNA_intronic . . . @ . . . . . . ENSG00000244257 PKD1P1 PKD1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71242399 rs71242399 rs71242399 1 1538 10 1/0 0,255,255 +. (chr16:16468939 C/T) 16 16468939 C T Not on a known gene +. 16 18412102 G A - NPIPA7 41982 Nuclear pore complex interacting protein family, member A7 NM_001282507.1 -1 1159 1110 NP_001269436.1 P0DM63 substitution missense exon GRCh37 18412102 18412102 Chr16(GRCh37):g.18412102G>A 833 833 NM_001282507.1:c.833C>T p.Ala278Val p.Ala278Val 8 191 3' 90.4337 XI.63 0.961149 7.07535 90.4337 XI.63 0.961149 7.07535 0 transition C T C>T 0.000 -14.080 A Ala GCG 0.107 V Val GTG 0.468 278 4 3 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 58.02 43.12 Tolerated 0.09 III.97 177 PASS . . . . . . . . . . . . . . . . 0.10747664 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.309 . @ . . . . . 1 0.138 . . 214.0 . . . . . . . . . . -0.4798 -0.638 -0.480 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.407 . . exonic exonic exonic . . . @ . . . . . . ENSG00000214940 NPIP . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.995 0.934 . . 37 . 0.366 . . 0.449 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 0.170 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.078 . . . . . . . 0.157 . LowAF 0.57 . . . . . . . . . . . . . . . . . . . 0.410000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . 0.410000 . . 1.0E-177 0.005 0.169 . 0.016 . . 0.164 . 0.247 . . . . . . . 1 1538 10 1/0 0,194,255 +. 16 18412102 G A - NPIPA8 41983 Nuclear pore complex interacting protein family member A8 NM_001282511.1 -1 1159 1110 NP_001269440.1 P0DM63 substitution missense exon GRCh37 18412102 18412102 Chr16(GRCh37):g.18412102G>A 833 833 NM_001282511.1:c.833C>T p.Ala278Val p.Ala278Val 8 191 3' 90.4337 XI.63 0.961149 7.07535 90.4337 XI.63 0.961149 7.07535 0 transition C T C>T 0.000 -14.080 A Ala GCG 0.107 V Val GTG 0.468 278 4 2 Chimp 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 177 PASS . . . . . . . . . . . . . . . . 0.10747664 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.309 . @ . . . . . 1 0.138 . . 214.0 . . . . . . . . . . -0.4798 -0.638 -0.480 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.407 . . exonic exonic exonic . . . @ . . . . . . ENSG00000214940 NPIP . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.995 0.934 . . 37 . 0.366 . . 0.449 . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 0.170 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.078 . . . . . . . 0.157 . LowAF 0.57 . . . . . . . . . . . . . . . . . . . 0.410000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . 0.410000 . . 1.0E-177 0.005 0.169 . 0.016 . . 0.164 . 0.247 . . . . . . . 1 1538 10 1/0 0,194,255 +. 16 18430682 G A - NPIPA8 41983 Nuclear pore complex interacting protein family member A8 NM_001282511.1 -1 1159 1110 NP_001269440.1 P0DM63 substitution upstream GRCh37 18430682 18430682 Chr16(GRCh37):g.18430682G>A -4163 -4163 NM_001282511.1:c.-4163C>T p.? p.? 1 -4226 5' 71.4086 5.84705 0.275879 0 71.4086 5.84705 0.275879 0 0 transition C T C>T 0.000 0.528 186 PASS . . . . . . . . . . . . . . . . 0.12765957 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 47.0 . . . . . . . . . . -0.1650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . @ . . . . . . ENSG00000205746 . . . . dist\x3d4163\x3bdist\x3d5908 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 18431253 G A - NPIPA8 41983 Nuclear pore complex interacting protein family member A8 NM_001282511.1 -1 1159 1110 NP_001269440.1 P0DM63 substitution upstream GRCh37 18431253 18431253 Chr16(GRCh37):g.18431253G>A -4734 -4734 NM_001282511.1:c.-4734C>T p.? p.? 1 -4797 5' 71.4086 5.84705 0.275879 0 71.4086 5.84705 0.275879 0 0 0.000164 0.000000 0.000414 0.000000 0.000000 0.000000 0.000188 0.000000 0.000753 0.000414 7 0 3 0 0 0 3 0 1 42674 4138 7250 1070 6612 4900 15942 1434 1328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 3 0 0 0 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 0.044 189 PASS . . . . . . . . . . . . AK310228:uc010bvu.2:exon5:c.C999T:p.H333H . . . 0.13513513 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 37.0 . . . . . . . . . . 0.3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000205746 AK310228 . . . dist\x3d4734\x3bdist\x3d5337 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0004 0 0 0 0.0002 0.0009 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr16:18452255 G/A) 16 18452255 G A Not on a known gene +. (chr16:18471378 T/C) 16 18471378 T C Not on a known gene +. (chr16:18473294 G/A) 16 18473294 G A Not on a known gene +. (chr16:18473640 G/A) 16 18473640 G A Not on a known gene +. (chr16:18480131 G/T) 16 18480131 G T Not on a known gene +rs781679891 16 18532038 G A - NOMO2 22652 NODAL modulator 2 NM_001004060.1 -1 3922 3804 NP_001004060.1 Q5JPE7 substitution intron GRCh37 18532038 18532038 Chr16(GRCh37):g.18532038G>A 2274-37 2274-37 NM_001004060.1:c.2274-37C>T p.? p.? 20 19 609158 -37 3' 81.1951 6.18396 0.910346 1.15457 81.1951 6.18396 0.910346 1.19944 0 rs781679891 yes no Frequency 1 0.000000 0 0.001400 0.001024 0.000604 0.005145 0.000614 0.000507 0.001178 0.006311 0.000393 0.006311 126 14 9 11 6 4 38 43 1 89986 13668 14890 2138 9776 7892 32266 6814 2542 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 126 14 9 11 6 4 38 43 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 0.851 181 PASS . . . . . . . . . . . . . . . . 0.11494253 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . 0.2186 . . . . . . . . 7.735e-04 . . . 0.0021 0.0063 0.0067 0 0.0556 0.0087 0 0.0044 0 0.0043 0 0 0.0455 0.0141 0 0.0045 . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.41 182 ENSG00000185164 NOMO2 NOMO2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781679891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.18 0.0009 0.0015 0.0006 0.0052 0.0004 0.0110 0.0011 0.0006 0.0005 0.0011 0.0013 0.0014 0.0047 0.0022 0.0009 0.0013 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs3752413 rs3752413 rs3752413 rs3752413 1 1538 10 1/0 0,233,255 +rs115520782 16 19125800 C T - ITPRIPL2 27257 Inositol 1,4,5-triphosphate receptor interacting protein-like 2 NM_001034841.3 1 7699 1608 NP_001030013.1 Q3MIP1 substitution missense exon GRCh37 19125800 19125800 Chr16(GRCh37):g.19125800C>T 17 17 NM_001034841.3:c.17C>T p.Thr6Ile p.Thr6Ile 1 rs115520782 yes no Frequency/1000G 2 C 0.000000 0 0.002995 0.000000 0.000000 0.000000 0.010900 0.005800 0.003127 0.000840 0.003050 0.000000 0.000000 0.000000 0.005922 0.001834 0.003137 0.005922 284 12 34 0 0 0 210 20 8 90818 14294 11146 1564 8710 6184 35462 10908 2550 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 1 0 0 0 0 0 1 0 0 282 12 34 0 0 0 208 20 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7802 3978 11780 36 4 40 0.00459301 0.00100452 0.00338409 0.00459301 0.00100452 0.00338409 11 COSM1197033|COSM1197033 Lung|Large intestine 0.000419|0.000448 2388|2231 transition C T C>T 1.000 2.062 T Thr ACC 0.361 I Ile ATC 0.481 6 11 8 Dog -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Deleterious 0 IV.32 bad 1.145E-5 2.327E-5 255 PASS 0.0041 0.01 0.01 . 0.01 . 0.003 0.0058 . 0.011 . ENSG00000205730:ENST00000381440:exon1:c.C17T:p.T6I ITPRIPL2:uc002dfu.4:exon1:c.C17T:p.T6I ITPRIPL2:NM_001034841:exon1:c.C17T:p.T6I . . 0.43820226 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.682 . @ . . . . . 1 0.779 . . 89.0 . . . 0.001 0.0034 0.0046 0.001 0.0034 0.0046 . 0.1936 0.175 0.194 c . . . . . 1.038e-03 . . . 0.0019 0.0068 0.0278 0 0 0.0097 0 0 0.0021 0.0056 0.02 0 0 0.0086 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.358 0.0030 . . . 0.42 0.46 182 ENSG00000205730 ITPRIPL2 ITPRIPL2 . . . 1.000 0.747 . 331 0.00509419 64976 316 0.0052679 59986 Uncertain_significance . 0 . 0.452 . . . . . . . . . 37 . 0.126 . . 0.206 . . . 0.246 0.327 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.291 . . 0 0 0 0 0 0 . 0.609 . . 0.507 . . . . . . 1 0.632 . . . . . 0.496 . 0.299 . HET . rs115520782 . . . . . . . 0.005952380952380952 0.0040650406504065045 0.008287292817679558 0.0 0.010554089709762533 XI.82 9.05E-4 ENST00000381440 III.21 III.21 . 0.000000 Q3MIP1 . . . 0.003384 . 0.390 . . III.21 0.0005 0.0029 0.0032 0 0 0.0012 0.0060 0.0019 0 0.0010 0.0036 0.0012 0 0 0.0032 0.0058 0.0051 . . 0.319 . 1.812 1.812000 . . 0.000000 . . 1.0E-255 0.997 0.399 . 0.377 1.000 . 0.561 . 0.307 1.812 0.871 0.01 . . rs115520782 rs115520782 1 1538 10 1/0 0,255,255 +rs146958511 16 19883991 C T - GPRC5B 13308 G protein-coupled receptor, class C, group 5, member B NM_001304771.1 -1 3174 1605 NP_001291700.1 substitution synonymous exon GRCh37 19883991 19883991 Chr16(GRCh37):g.19883991C>T 570 570 NM_001304771.1:c.570G>A p.Val190= p.Val190Val 2 605948 178 3' 82.201 X.44 0.966619 9.20616 82.201 X.44 0.966619 9.20616 0 rs146958511 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.002455 0.000791 0.000959 0.000000 0.000000 0.000845 0.004226 0.001980 0.002476 0.004226 680 19 33 0 0 26 535 51 16 277040 24010 34416 10150 18864 30782 126602 25754 6462 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 678 19 33 0 0 26 533 51 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4387 12953 34 7 41 0.00395349 0.00159308 0.0031553 0.00395349 0.00159308 0.0031553 42 transition G A G>A 1.000 1.497 V Val GTG 0.468 V Val GTA 0.114 190 255 PASS . 0.0009 . . 0.0026 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.41584158 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . 0.0016 0.0032 0.004 0.0016 0.0032 0.004 . I.39 . . . . . . . . 2.825e-03 . . . 0.0009 0.0025 0.0008 0 0.0029 0.0042 0.0057 0.0009 0.0008 0.0027 0.0007 0 0.0018 0.0045 0.0044 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.4 0.31 182 ENSG00000167191 GPRC5B GPRC5B . . . . . . 211 0.00324735 64976 206 0.00343413 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146958511 . . . . . . . . . . . . . . . . . . . . . . . 0.003155 . . . . 5.VIII 0.0007 0.0025 0.0010 0 0 0.0020 0.0043 0.0026 0.0008 0.0010 0.0025 0.0012 0 0 0.0020 0.0038 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs146958511 rs146958511 1 1538 10 1/0 0,252,255 +rs62035041 16 20476995 G A - ACSM2A 32017 Acyl-CoA synthetase medium-chain family member 2A NM_001308172.1 1 2954 1734 NP_001295101.1 Q08AH3 substitution missense exon GRCh37 20476995 20476995 Chr16(GRCh37):g.20476995G>A 334 334 NM_001308172.1:c.334G>A p.Val112Met p.Val112Met 3 614358 -55 5' 80.0438 8.07704 0.704438 5.46416 80.0438 8.07704 0.704438 5.73754 0 Cryptic Acceptor Weakly Activated 20476993 I.21 0.002086 66.7317 1.95722 0.002723 66.7317 rs62035041 yes no Frequency 1 G 0.000000 0 0.002227 0.010222 0.000910 0.000304 0.000053 0.004679 0.001052 0.002192 0.002538 0.010222 598 227 31 3 1 136 130 54 16 268522 22206 34068 9862 18752 29064 123630 24636 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 598 227 31 3 1 136 130 54 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424760|COSM5424760|COSM5424760 Thyroid|Liver|Haematopoietic and lymphoid tissue 0.002677|0.000844|0.001133 747|2371|3530 transition G A G>A 0.953 0.367 V Val GTG 0.468 M Met ATG 1.000 112 12 10 Cow 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 247.90 III.24 Tolerated 0.06 III.39 249 PASS . . . . . . . . . . . . . . . . 0.3018868 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.482 . @ . . . . . 1 0.914 . . 159.0 . . . . . . . . . . -0.2667 -0.246 -0.267 c . . . . . 2.723e-03 . . . 0.0027 0.0027 0.0010 0.0002 0.0013 0.0008 0.0029 0.0098 0.0027 0.0022 0.0008 0.0001 0.0024 0.0005 0.0044 0.0098 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.402 . . exonic exonic exonic . . 0.228 @ . . . 0.48 0.43 182 ENSG00000183747 ACSM2A ACSM2A . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . 0.245 . . . . T 0.111 0.004 . . 37 . 0.257 . . 0.301 . . . 0.134 0.351 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.486 . . 0 0 0 0 0 0 . 0.532 . . 0.520 . . . . . . 0 0.141 . . . . . 0.090 . 0.295 . HET 0.16 rs62035041 . . . . . . . . . . . . III.68 . . III.76 I.63 . 0.730000 . . . . . . 0.252 . . . 0.0069 0.0017 0.0009 0.0003 0 0.0009 0.0009 0.0030 0.0047 0.0163 0.0068 0.0012 0 0.0006 0.0102 0.0025 0 . . 0.133 . 0.661 0.661000 . . 0.730000 . . 1.0E-249 0.362 0.256 . 0.422 0.856 . 0.228 . 0.413 0.661 0.069 . rs62035041 rs62035041 rs62035041 rs62035041 1 1538 10 1/0 0,226,255 +rs139236064 16 20557791 T C - ACSM2B 30931 Acyl-CoA synthetase medium-chain family member 2B NM_182617.3 -1 2444 1734 NP_872423.3 Q68CK6 substitution synonymous exon GRCh37 20557791 20557791 Chr16(GRCh37):g.20557791T>C 1104 1104 NM_182617.3:c.1104A>G p.Leu368= p.Leu368Leu 10 614359 6 3' 90.0793 XII.79 0.986027 12.1046 90.0793 XII.79 0.9865 XII.17 0.000159901 AMP-dependent synthetase/ligase rs139236064 yes no Frequency/1000G 2 T 0.000000 0 0.002596 0.009100 0.000000 0.000000 0.000000 0.001400 0.000999 0.007476 0.000456 0.000140 0.000908 0.000584 0.000175 0.000000 0.000724 0.007476 242 175 13 1 16 13 20 0 4 242314 23408 28500 7118 17628 22262 114056 23814 5528 0.000008 0.000085 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 240 173 13 1 16 13 20 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5428275 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.000 -2.054 L Leu TTA 0.073 L Leu TTG 0.127 368 202 PASS 0.12 0.07 0.03 0.08 0.05 0.0091 0.0026 0.0014 . . . . . . . . 0.16438356 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 73.0 . . . . . . . . . . -0.5781 . . . . . . . . 9.794e-04 . . . 0.0083 0.0013 0.0005 0.0005 0 0.0002 0.0016 0.0004 0.0079 0.0010 0.0005 0.0011 0 0.0002 0.0016 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.21 0.2 182 ENSG00000066813 ACSM2B ACSM2B . . . . . . 18 0.000277025 64976 10 0.000166706 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139236064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0069 0.0008 0.0004 0.0001 0.0009 0 0.0002 0.0007 0.0006 0.0085 0.0026 0.0012 0 0.0012 0 6.666e-05 0.0010 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . 0.12 . . rs79385757 rs139236064 1 1538 10 1/0 0,245,255 +. (chr16:20618412 T/TC) 16 20618412 T TC Not on a known gene +. (chr16:21415540 C/A) 16 21415540 C A No Alamut gene - other known genes: NPIPL3 NPIPL3 +. (chr16:21426391 C/A) 16 21426391 C A No Alamut gene - other known genes: NPIPL3 NPIPL3 +. 16 21666577 A G - METTL9 24586 Methyltransferase like 9 NM_016025.4 1 3256 957 NP_057109.3 Q9H1A3 substitution missense exon GRCh37 21666577 21666577 Chr16(GRCh37):g.21666577A>G 781 781 NM_016025.4:c.781A>G p.Ile261Val p.Ile261Val 5 609388 30 3' 76.8566 3.18171 0.384028 2.32615 76.8566 3.18171 0.384028 2.48537 0 DREV methyltransferase transition A G A>G 1.000 1.900 I Ile ATT 0.356 V Val GTT 0.178 261 12 5 Dog 3 3 4 0 0 5.II 5.IX 111 84 29 C0 263.90 0.00 Tolerated 0.52 III.29 255 PASS . . . . . . . . . . . . . . . . 0.39473686 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.174 . . 38.0 . . . . . . . . . . -0.4011 -0.115 -0.401 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.640 @ . . . . . . ENSG00000197006 METTL9 METTL9 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.486 . . . . T 0.006 0.001 . . 37 . 0.120 . . 0.201 . . . 0.009 0.277 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.036 . . . . . 0.176 . 0.202 . HET 0.92 . . . . . . . . . . . . . V.37 . . 6.VII IV.92 . 0.570000 . . . . . . 0.407 . . IV.92 . . . . . . . . . . . . . . . . . . . 0.924 . 2.330 2.330000 . . 0.570000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.326 . 0.960 2.330 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs200565691 (chr16:21906878 G/A) 16 21906878 G A Not on a known gene +. (chr16:21916222 G/A) 16 21916222 G A Not on a known gene +rs145806753 16 22149688 T C - VWA3A 27088 Von Willebrand factor A domain containing 3A NM_173615.4 1 4604 3555 NP_775886.3 A6NCI4 substitution missense exon GRCh37 22149688 22149688 Chr16(GRCh37):g.22149688T>C 2147 2147 NM_173615.4:c.2147T>C p.Phe716Ser p.Phe716Ser 22 8 3' 74.539 6.83331 0.119925 6.66909 74.539 6.83331 0.179721 6.83225 0.166204 rs145806753 yes no Frequency/1000G 2 T 0.000000 0 0.002995 0.000800 0.002000 0.000000 0.008900 0.004300 0.007340 0.002978 0.007938 0.003439 0.000000 0.002507 0.011254 0.004348 0.009224 0.011254 1758 62 237 32 0 67 1203 103 54 239496 20820 29858 9304 16346 26728 106896 23690 5854 0.000125 0.000000 0.000134 0.000000 0.000000 0.000000 0.000206 0.000084 0.000342 15 0 2 0 0 0 11 1 1 1728 62 233 32 0 67 1181 101 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8256 4012 12268 96 8 104 0.0114943 0.00199005 0.00840608 0.0114943 0.00199005 0.00840608 33 transition T C T>C 0.717 1.577 F Phe TTC 0.546 S Ser TCC 0.220 716 12 7 Chicken -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 169.72 34.34 Tolerated 0.21 III.35 255 PASS . 0.0041 0.01 . 0.01 0.0008 0.003 0.0043 . 0.0089 0.002 . . VWA3A:NM_173615:exon22:c.T2147C:p.F716S . . 0.5744681 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.550 . @ . . . . . 1 0.657 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F716S|VWA3A|mRNA|CODING|NM_173615|NM_173615.ex.22) 0.002 0.0084 0.011 0.002 0.0084 0.011 . -0.0267 0.099 -0.027 c . . . . . 6.031e-03 . . . 0.0029 0.0134 0.0184 0 0.0141 0.0220 0.0074 0.0042 0.0020 0.0132 0.0205 0 0.0088 0.0216 0.0125 0.0041 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.437 . . exonic exonic exonic . . 0.488 0.0030 . . . 0.59 0.56 182 ENSG00000175267 VWA3A VWA3A . . . 0.000 0.072 . 774 0.0119121 64976 760 0.0126696 59986 Uncertain_significance . 0 . 0.052 . . . . . . . . . 37 . 0.110 . . 0.136 . . . 0.339 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.711 . . 0 0 0 0 0 0 . 0.297 . . 0.275 . . . . . . 0 0.654 . . . . . 0.344 . 0.524 . HET 0.01 rs145806753 . . . . . . . 0.004120879120879121 0.0 0.011049723756906077 0.0 0.006596306068601583 VIII.05 0.002087 . V.31 IV.21 . 0.120000 . . . . 0.008406 . 0.340 . . IV.21 0.0032 0.0074 0.0078 0.0036 0 0.0045 0.0113 0.0096 0.0025 0.0026 0.0072 0.0132 0 0 0.0034 0.0112 0.0072 . . 0.185 . 2.139 2.139000 . . 0.120000 . . 1.0E-255 0.952 0.329 . 0.394 0.988 . 0.519 . 0.807 2.139 0.991 0.011 . . rs145806753 rs145806753 1 1538 10 1/0 0,255,255 +rs62047207 (chr16:22198157 T/C) 16 22198157 T C Not on a known gene +. 16 22543704 G A - NPIPB5 37233 Nuclear pore complex interacting protein family, member B5 NM_001135865.1 1 3817 3402 NP_001129337.1 A8MRT5 substitution intron GRCh37 22543704 22543704 Chr16(GRCh37):g.22543704G>A 642+118 642+118 NM_001135865.1:c.642+118G>A p.? p.? 6 6 118 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.000 -0.117 184 PASS . . . . . . . . . . . . . . . . 0.121212125 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.105 . @ . . . . . 2 0.108 . . 165.0 . . INTRON(MODIFIER||||NPIPB5|mRNA|CODING|NM_001135865|) . . . . . . . -0.3259 -0.218 -0.326 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . 0.099 @ . . . 0.47 0.27 182 ENSG00000243716 LOC100132247 NPIPB5 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.026 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 9.999999999999999E-185 0.066 0.217 . 0.145 . . 0.329 . 0.269 . . . rs256387 rs256387 rs256387 rs256387 1 1538 10 1/0 0,206,255 +rs45624036 16 23635370 C T - PALB2 26144 Partner and localizer of BRCA2 NM_024675.3 -1 4058 3561 NP_078951.2 Q86YC2 substitution missense exon GRCh37 23635370 23635370 Chr16(GRCh37):g.23635370C>T 2794 2794 NM_024675.3:c.2794G>A p.Val932Met p.Val932Met 8 610355 -41 5' 89.8263 9.80181 0.997418 5.05995 89.8263 9.80181 0.997418 4.82968 0 Cryptic Donor Strongly Activated 23635369 1.29679 0.008635 63.8882 2.60254 0.168158 72.849 WD40-repeat-containing domain rs45624036 yes no Frequency/1000G 2 C benign 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.005208 0.001295 0.001832 0.004245 0.000000 0.001041 0.006440 0.016599 0.004650 0.016599 1441 31 63 43 0 32 814 428 30 276692 23944 34386 10130 18852 30744 126400 25784 6452 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000155 0.000000 4 0 0 0 0 0 2 2 0 1433 31 63 43 0 32 810 424 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4389 12938 51 5 56 0.00593023 0.00113792 0.00430968 0.00593023 0.00113792 0.00430968 104 RCV000114559.10|RCV000121760.4|RCV000514905.1|RCV000116090.7|RCV000114560.1 germline|germline|germline|germline|germline|germline|germline|germline|germline|germline|germline|germline|germline literature only|clinical testing|clinical testing|case-control|reference population|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|clinical testing|literature only Conflicting interpretations of pathogenicity|Benign|Likely benign|Conflicting interpretations of pathogenicity|Benign 1|2|1|1|0 Familial cancer of breast|not specified|not provided|Hereditary cancer-predisposing syndrome|Pancreatic cancer 3 CM112100 Breast cancer 21409391 DM? transition G A G>A 1.000 1.981 V Val GTG 0.468 M Met ATG 1.000 932 12 8 Chicken 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 30.92 0.00 Tolerated 0.22 II.82 bad 8.462E-4 0.001111 255 PASS . 0.0009 . . 0.0026 . 0.001 . . 0.005 . ENSG00000083093:ENST00000261584:exon8:c.G2794A:p.V932M PALB2:uc002dlx.1:exon8:c.G2794A:p.V932M PALB2:NM_024675:exon8:c.G2794A:p.V932M . . 0.45901638 . . germline 28 . . 1.2.2016 0 1 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.765 . Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity//\%//\@Benign other|Benign|other|Benign RCV000114559.9|RCV000114560.1|RCV000116090.6|RCV000121760.2 Familial_cancer_of_breast|Pancreatic_cancer_3|Hereditary_cancer-predisposing_syndrome|not_specified MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:SNOMED_CT|MedGen C0346153:114480:ORPHA227535:254843006|C3150547:613348|C0027672:699346009|CN169374 1 0.918 . . 61.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V932M|PALB2|mRNA|CODING|NM_024675|NM_024675.ex.8) 0.0011 0.0043 0.0059 0.0011 0.0043 0.0059 . 0.4825 0.478 0.483 c . . . . . 5.904e-03 . . . 0.0013 0.0041 0.0020 0 0.0175 0.0056 0.0101 0.0012 0.0015 0.0061 0.0019 0 0.0183 0.0087 0.0073 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.622 0.0010 . . . 0.68 0.48 182 ENSG00000083093 PALB2 PALB2 . . . 0.218 0.183 . 332 0.00510958 64976 327 0.00545127 59986 Likely_benign . 0 . 0.421 . . . . . . . . . 37 . 0.367 . . 0.520 . . . 0.735 0.336 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.433 . . 0 0 0 0 1 0 . 0.899 . . 0.797 . . . . . . 0 0.315 . . . . . 0.408 . 0.566 . HET 0.14 rs45624036 . . . CLINSIG\x3dother|non-pathogenic|other|untested\x3bCLNDBN\x3dFamilial_cancer_of_breast|Pancreatic_cancer_3|Neoplastic_Syndromes\x2c_Hereditary|not_specified\x3bCLNREVSTAT\x3dmult|single|mult|not\x3bCLNACC\x3dRCV000114559.3|RCV000114560.1|RCV000116090.2|RCV000121760.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen|.\x3bCLNDSDBID\x3dNBK1247:C0346153:114480:254843006|C3150547:613348:ORPHA1333|C0027672|. CLINSIG\x3dnon-pathogenic|non-pathogenic|other|untested\x3bCLNDBN\x3dFamilial_cancer_of_breast|Pancreatic_cancer_3|Hereditary_cancer-predisposing_syndrome|not_specified\x3bCLNREVSTAT\x3dmult|single|mult|not\x3bCLNACC\x3dRCV000114559.4|RCV000114560.1|RCV000116090.4|RCV000121760.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen:SNOMED_CT|MedGen\x3bCLNDSDBID\x3dNBK1247:C0346153:114480:254843006|C3150547:613348:ORPHA1333|C0027672:699346009|CN169374 CLINSIG\x3dnon-pathogenic|non-pathogenic|untested\x3bCLNDBN\x3dFamilial_cancer_of_breast|Pancreatic_cancer_3|not_specified\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_provided\x3bCLNACC\x3dRCV000114559.5|RCV000114560.1|RCV000121760.1\x3bCLNDSDB\x3dGeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen\x3bCLNDSDBID\x3dNBK1247:C0346153:114480:254843006|C3150547:613348:ORPHA1333|CN169374 . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IX.58 0.00107 ENST00000261584 V.81 IV.85 . 0.290000 Q86YC2 . . . 0.004310 . 0.409 . . IV.85 0.0014 0.0052 0.0018 0.0042 0 0.0169 0.0066 0.0044 0.0010 0.0011 0.0049 0.0012 0.0066 0 0.0149 0.0055 0.0061 . . 0.924 . 1.445 1.445000 . . 0.290000 . . 1.0E-255 0.967 0.338 . 0.419 0.943 . 0.432 . 0.150 1.445 0.008 0.0059 rs45624036 rs45624036 rs45624036 . 1 1538 10 1/0 0,255,255 +rs26761 16 23712661 C T - ERN2 16942 Endoplasmic reticulum to nucleus signaling 2 NM_033266.3 -1 3621 2781 NP_150296.4 Q76MJ5 substitution intron GRCh37 23712661 23712661 Chr16(GRCh37):g.23712661C>T 1204-226 1204-226 NM_033266.3:c.1204-226G>A p.? p.? 12 11 604034 -226 3' 81.8167 4.22966 0.091468 0 81.8167 4.22966 0.091468 0 0 rs26761 yes no Frequency/1000G 2 T 0.000000 0 0.996006 1.000000 0.979600 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 0.998982 1.000000 30977 8730 838 302 1622 0 15010 3494 981 30978 8730 838 302 1622 0 15010 3494 982 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.499490 15488 4365 419 151 811 0 7505 1747 490 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -2.216 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 0.98 . . . . . 1.0 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 11.0 . . . . . . . . . . -0.5934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.23 0.34 182 ENSG00000134398 ERN2 ERN2 . . . . . . 64957 0.999708 64976 59985 0.999983 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs26761 0.978 0.986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1 0.9990 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs26761 rs26761 rs26761 rs26761 1 1538 255 1.I 0,0,255 +rs149360617 16 24800822 A G - TNRC6A 11969 Trinucleotide repeat containing 6A NM_014494.3 1 8480 5889 NP_055309.2 Q8NDV7 substitution missense exon GRCh37 24800822 24800822 Chr16(GRCh37):g.24800822A>G 859 859 NM_014494.3:c.859A>G p.Thr287Ala p.Thr287Ala 6 610739 270 3' 78.9924 VII.39 0.973261 VIII.72 78.9924 VII.39 0.973261 VIII.72 0 Cryptic Acceptor Strongly Activated 24800821 0.94651 0.000337 60.788 1.47778 0.000592 60.788 rs149360617 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000577 0.000125 0.000494 0.000000 0.000000 0.000130 0.001018 0.000155 0.000464 0.001018 160 3 17 0 0 4 129 4 3 277194 24030 34420 10146 18870 30782 126688 25792 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 160 3 17 0 0 4 129 4 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8594 4394 12988 6 0 6 0.000697674 0 0.000461752 0.000697674 0 0.000461752 90 transition A G A>G 0.992 0.286 T Thr ACT 0.243 A Ala GCT 0.263 287 12 7 Dog 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.29 IV.32 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . . TNRC6A:NM_014494:exon6:c.A859G:p.T287A . . 0.4945055 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.091 . @ . . . . . 1 0.240 . . 91.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T287A|TNRC6A|mRNA|CODING|NM_014494|NM_014494.ex.6) . 0.0005 0.0007 . 0.0005 0.0007 . -0.4771 -0.305 -0.477 c . . . . . 4.972e-04 . . . 9.664e-05 0.0005 0.0005 0 0 0.0008 0 0.0002 0 0.0005 0.0005 0 0 0.0007 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.203 0.0004 . . . 0.68 0.65 182 ENSG00000090905 TNRC6A TNRC6A . . . 0.936 0.272 . 21 0.000323196 64976 19 0.000316741 59986 Uncertain_significance . 0 . 0.178 . . . . T 0.058 0.003 . . 37 . 0.073 . . 0.278 . . . 0.145 0.222 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.293 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.518 . . . . . 0.172 . 0.081 . HET 0.07 rs149360617 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 V.39 0.0 . V.94 I.23 . 0.160000 . . . . 0.000462 . 0.404 . . . 0.0001 0.0006 0.0005 0 0 8.969e-05 0.0010 0.0005 0.0001 0.0001 0.0008 0 0 0 0.0006 0.0014 0 . . 0.730 . 0.144 0.144000 . . 0.160000 . . 1.0E-255 0.998 0.411 . 0.888 0.999 . 0.244 . 0.960 0.144 1.062 0.0026 . . rs149360617 rs149360617 1 1538 10 1/0 0,255,255 +. 16 28355630 A G - NPIPB6 37454 Nuclear pore complex interacting protein family, member B6 NM_001282524.1 -1 1406 1278 NP_001269453.1 E9PJ23 substitution intron GRCh37 28355630 28355630 Chr16(GRCh37):g.28355630A>G 696+239 696+239 NM_001282524.1:c.696+239T>C p.? p.? 6 6 239 5' 86.9112 X.85 0.995579 2.09861 86.9112 X.85 0.995579 2.09861 0 Cryptic Acceptor Weakly Activated 28355627 I.99 0.021557 71.5337 3.05369 0.012781 77.7104 transition T C T>C 0.122 0.125 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||NPIPB6|mRNA|CODING|NM_001282524|) . . . . . . . -0.3442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198156 NPIPL1 NPIPB6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs40830 rs40830 rs40830 rs40830 1 1538 10 1/0 0,255,255 +. 16 28360209 G A - NPIPB6 37454 Nuclear pore complex interacting protein family, member B6 NM_001282524.1 -1 1406 1278 NP_001269453.1 E9PJ23 substitution missense exon GRCh37 28360209 28360209 Chr16(GRCh37):g.28360209G>A 545 545 NM_001282524.1:c.545C>T p.Thr182Met p.Thr182Met 4 -55 5' 73.3142 5.95993 0.744538 0 73.3142 5.95993 0.744538 0 0 0.003182 0.000000 0.005330 0.000000 0.000000 0.004005 0.003205 0.000000 0.000000 0.005330 13 0 5 0 0 6 2 0 0 4086 288 938 24 404 1498 624 178 132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 5 0 0 6 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.020 0.125 T Thr ACG 0.116 M Met ATG 1.000 182 6 3 Macaque -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Deleterious 0.03 IV.32 182 PASS . . . . . . . . . . . . . NPIPB6:NM_001282524:exon4:c.C545T:p.T182M . . 0.11643836 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.440 . @ . . . . . 1 0.636 . . 146.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T182M|NPIPB6|mRNA|CODING|NM_001282524|NM_001282524.ex.4) . . . . . . . -0.5268 -0.876 -0.527 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.577 . . exonic exonic exonic . . . @ . . . . . . ENSG00000198156 NPIPL1 NPIPB6 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.093 0.004 . . 37 . 0.634 . . 0.513 . . . 0.440 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.635 . . 0 0 0 0 0 0 . 0.899 . . 0.742 . . . . . . 0 0.371 . . . . . . . 0.207 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.040000 . . . . . . 0.006 . . . 0 0.0039 0.0055 0 0 0 0.0056 0 0.0040 0 0 0 0 0 0 0 0 . . 0.558 . 0.159 0.159000 . . 0.040000 . . 1.0E-182 0.000 0.063 . 0.043 0.006 . 0.014 . 0.011 0.159 -1.242 . . . . . 1 1538 10 1/0 0,211,255 +. 16 28368589 G T - NPIPB6 37454 Nuclear pore complex interacting protein family, member B6 NM_001282524.1 -1 1406 1278 NP_001269453.1 E9PJ23 substitution intron GRCh37 28368589 28368589 Chr16(GRCh37):g.28368589G>T 121-4207 121-4207 NM_001282524.1:c.121-4207C>A p.? p.? 2 1 -4207 3' 93.468 7.11356 0.860184 6.74895 93.468 7.11356 0.860184 6.74895 0 transversion C A C>A 0.587 0.125 176 PASS . . . . . . . . . . . . . . . . 0.10638298 . . . 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||NPIPB6|mRNA|CODING|NM_001282524|) . . . . . . . -0.0428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000198156 NPIPL1 NPIPB6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs2106634 rs2106634 rs2106634 rs2106634 1 1538 10 1/0 0,255,255 +. 16 28391771 C T - EIF3CL 26347 Eukaryotic translation initiation factor 3 subunit C-like NM_001099661.2 -1 3095 2745 NP_001093131.1 B5ME19 substitution intron GRCh37 28391771 28391771 Chr16(GRCh37):g.28391771C>T 2411+18 2411+18 NM_001099661.2:c.2411+18G>A p.? p.? 18 18 18 5' 84.1408 9.87848 0.942715 X.96 84.1408 9.87848 0.942715 X.95 0 transition G A G>A 0.000 -0.037 214 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . 0.1999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000205609 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,201,255 +. 16 28468267 G GT - NPIPL1 33832 Nuclear pore complex interacting protein-like 1 ENST00000452313.1 -1 1406 1245 ENSP00000405348 duplication frameshift exon GRCh37 28468267 28468268 Chr16(GRCh37):g.28468268dup 722 722 ENST00000452313.1:c.722dup p.Asn241Lysfs*18 p.Asn241Lysfs*18 7 80 3' 90.4337 XI.63 0.960909 6.91559 90.4337 XI.63 0.960909 6.91559 0 rs530867152 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000981 0.000982 0.000503 0.000446 0.000000 0.000000 0.001747 0.000384 0.000914 0.001747 176 15 11 3 0 0 139 4 4 179378 15278 21878 6732 15966 25196 79544 10408 4376 0.000468 0.000524 0.000366 0.000297 0.000000 0.000000 0.000830 0.000000 0.000000 42 4 4 1 0 0 33 0 0 92 7 3 1 0 0 73 4 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes A 255 Pass . . . . . . 0.0006 0.0014 . 0.002 . ENSG00000233232:ENST00000452313:exon7:c.722dupA:p.N241fs NPIPL1:uc010vct.2:exon8:c.767dupA:p.N256fs . . . 0.3469388 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 147 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . 3.521e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 frameshift_insertion frameshift_insertion . . . . exonic exonic intergenic . . . . . . . . . . ENSG00000233232 NPIPL1 . . . dist\x3d30492\x3bdist\x3d9707 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . rs530867152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0007 0.0005 0.0005 0 0 0.0013 0.0003 0 0.0006 0.0027 0 0 0 0.0015 0.0047 0.0043 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,46 +. 16 28474049 G A - NPIPL1 33832 Nuclear pore complex interacting protein-like 1 ENST00000452313.1 -1 1406 1245 ENSP00000405348 substitution missense exon GRCh37 28474049 28474049 Chr16(GRCh37):g.28474049G>A 491 491 ENST00000452313.1:c.491C>T p.Thr164Met p.Thr164Met 4 -55 5' 73.3142 5.95993 0.744538 0 73.3142 5.95993 0.744538 0 0 0.001341 0.062500 0.001116 0.000000 0.000000 0.000698 0.005747 0.000000 0.000000 0.062500 5 1 2 0 0 1 1 0 0 3728 16 1792 6 112 1432 174 4 192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 107 Exomes transition C T C>T 0.083 0.044 T Thr ACG 0.116 M Met ATG 1.000 164 5 3 Gorilla -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C15 37.56 63.95 Tolerated 0.06 III.72 bad 5.479E-4 0.0003844 175 PASS . . . . . . . . . . . ENSG00000233232:ENST00000452313:exon4:c.C491T:p.T164M . . . . 0.102564104 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.227 . @ . . . . . 3 0.582 . . 156.0 . . DOWNSTREAM(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|) . . . . . . . -0.3020 -0.578 -0.302 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.577 . . exonic exonic intergenic . . . @ . . . . . . ENSG00000233232 NPIPL1 . . . dist\x3d36274\x3bdist\x3d3925 0.000 0.035 . . . . . . . . . 0 . . . . . . T 0.183 0.007 . . 37 . 0.632 . . 0.515 . . . . 0.090 . . . . . . . . . . . . . . . 0.634 . . . . . . 0 . . 0.899 . . 0.742 . . . . . . 0 0.375 . . . . . . . 0.231 . LowAF 0 . . . . . . . . . . . . . . . ENST00000452313 . . . 0.040000 E7ERT9 . . . . . 0.077 . . . 0.0625 0.0013 0.0011 0 0 0 0.0057 0 0.0007 . . . . . . . . . . 0.558 . 0.064 0.064000 . . 0.040000 . . 1.0E-175 0.579 0.273 . 0.183 0.087 . 0.049 . 0.166 0.064 0.060 . . . . . 1 1538 10 1/0 0,207,255 +. 16 28478174 A G - CLN3 2074 Ceroid-lipofuscinosis, neuronal 3 NM_000086.2 -1 1877 1317 NP_000077.1 Q13286 substitution downstream GRCh37 28478174 28478174 Chr16(GRCh37):g.28478174A>G *10663 *10663 NM_000086.2:c.*10663T>C p.? p.? 15 607042 10783 3' 81.9561 X.45 0.979028 13.506 81.9561 X.45 0.979028 13.506 0 Cryptic Acceptor Weakly Activated 28478171 3.75898 0.08352 77.3183 III.92 0.072022 83.495 0.000202 0.000287 0.000000 0.000000 0.001229 0.000000 0.000000 0.000000 0.000000 0.001229 2 1 0 0 1 0 0 0 0 9894 3486 272 114 814 50 4402 472 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -2.135 199 PASS . . . . . . . . . . . ENSG00000233232:ENST00000452313:exon2:c.T116C:p.V39A NPIPL1:uc010vct.2:exon3:c.T161C:p.V54A . . . 0.1590909 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.005 . @ . . . . . 2 0.008 . . 44.0 . . UTR_3_PRIME(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|NM_001286109.ex.14) . . . . . . . -1.7350 -1.833 -1.735 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.460 . . exonic exonic UTR3 . . . @ . . . . . . ENSG00000233232 NPIPL1 CLN3 . . NM_001286109:c.*102T>C 0.001 0.076 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . 0.191 . . 0.168 . . . . 0.090 . . . . . . . . . . . . . . . 0.023 . . . . . . 0 . . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.226 . HET 1 . . . . . . . . . . . . . . . ENST00000452313 . . . 0.360000 E7ERT9 . . . . . 0.019 . . . 0 0.0025 0 0 0.0139 0 0 0 0 0.0003 0.0001 0 0 0 0 0 0 . . 0.428 . -2.179 -2.179000 . . 0.360000 . . 1.0E-199 0.324 0.253 . 0.157 0.052 . 0.035 . 0.005 -2.179 -2.431 . rs1064931 rs1064931 rs1064931 rs1064931 1 1538 10 1/0 0,255,255 +. 16 28478174 A G - NPIPL1 33832 Nuclear pore complex interacting protein-like 1 ENST00000452313.1 -1 1406 1245 ENSP00000405348 substitution missense exon GRCh37 28478174 28478174 Chr16(GRCh37):g.28478174A>G 116 116 ENST00000452313.1:c.116T>C p.Val39Ala p.Val39Ala 2 50 3' 93.468 7.11356 0.860184 6.74895 93.468 7.11356 0.860184 VII.81 0 Cryptic Acceptor Weakly Activated 28478171 3.75898 0.08352 77.3183 III.92 0.072022 83.495 0.000202 0.000287 0.000000 0.000000 0.001229 0.000000 0.000000 0.000000 0.000000 0.001229 2 1 0 0 1 0 0 0 0 9894 3486 272 114 814 50 4402 472 284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -2.135 V Val GTA 0.114 A Ala GCA 0.226 39 5 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Not scored 0.0 0.0 unknown 0.0 0.0 199 PASS . . . . . . . . . . . ENSG00000233232:ENST00000452313:exon2:c.T116C:p.V39A NPIPL1:uc010vct.2:exon3:c.T161C:p.V54A . . . 0.1590909 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.005 . @ . . . . . 2 0.008 . . 44.0 . . UTR_3_PRIME(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|NM_001286109.ex.14) . . . . . . . -1.7350 -1.833 -1.735 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.460 . . exonic exonic UTR3 . . . @ . . . . . . ENSG00000233232 NPIPL1 CLN3 . . NM_001286109:c.*102T>C 0.001 0.076 . . . . . . . . . 0 . . . . . . T 0.049 0.002 . . 37 . 0.191 . . 0.168 . . . . 0.090 . . . . . . . . . . . . . . . 0.023 . . . . . . 0 . . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . . . 0.226 . HET 1 . . . . . . . . . . . . . . . ENST00000452313 . . . 0.360000 E7ERT9 . . . . . 0.019 . . . 0 0.0025 0 0 0.0139 0 0 0 0 0.0003 0.0001 0 0 0 0 0 0 . . 0.428 . -2.179 -2.179000 . . 0.360000 . . 1.0E-199 0.324 0.253 . 0.157 0.052 . 0.035 . 0.005 -2.179 -2.431 . rs1064931 rs1064931 rs1064931 rs1064931 1 1538 10 1/0 0,255,255 +. 16 28482457 G T - CLN3 2074 Ceroid-lipofuscinosis, neuronal 3 NM_000086.2 -1 1877 1317 NP_000077.1 Q13286 substitution downstream GRCh37 28482457 28482457 Chr16(GRCh37):g.28482457G>T *6380 *6380 NM_000086.2:c.*6380C>A p.? p.? 15 607042 6500 3' 81.9561 X.45 0.979028 13.506 81.9561 X.45 0.979028 13.506 0 transversion C A C>A 0.000 -14.080 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.083 . @ . . . . . 2 0.139 . . 42.0 . . INTRON(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|) . . . . . . . -0.3722 -0.229 -0.372 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . CLN3 . . . 0.000 0.060 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.029 . . . . . . . . 1.0E-182 0.483 0.266 . . . . 0.173 . . . . . rs2106634 rs2106634 rs2106634 rs2106634 1 1538 10 1/0 0,255,255 +. 16 28482457 G T - NPIPL1 33832 Nuclear pore complex interacting protein-like 1 ENST00000452313.1 -1 1406 1245 ENSP00000405348 substitution upstream GRCh37 28482457 28482457 Chr16(GRCh37):g.28482457G>T -698 -698 ENST00000452313.1:c.-698C>A p.? p.? 1 -764 5' 74.1084 7.21055 0.8816 5.86875 74.1084 7.21055 0.8816 5.86875 0 transversion C A C>A 0.000 -14.080 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.083 . @ . . . . . 2 0.139 . . 42.0 . . INTRON(MODIFIER||||CLN3|mRNA|CODING|NM_001286109|) . . . . . . . -0.3722 -0.229 -0.372 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . CLN3 . . . 0.000 0.060 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.029 . . . . . . . . 1.0E-182 0.483 0.266 . . . . 0.173 . . . . . rs2106634 rs2106634 rs2106634 rs2106634 1 1538 10 1/0 0,255,255 +. 16 28663631 C T - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution missense exon GRCh37 28663631 28663631 Chr16(GRCh37):g.28663631C>T 545 545 NM_001310136.1:c.545C>T p.Thr182Met p.Thr182Met 4 -55 5' 73.3142 5.95993 0.744538 0 73.3142 5.95993 0.744538 0 0 0.000332 0.000226 0.000332 0.000000 0.000142 0.000000 0.000621 0.000000 0.000000 0.000621 15 1 3 0 1 0 10 0 0 45162 4424 9024 1068 7050 5700 16096 444 1356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 1 3 0 1 0 10 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.028 -0.037 T Thr ACG 0.116 M Met ATG 1.000 182 5 4 Macaque -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C15 64.77 81.04 Deleterious 0.01 III.78 203 PASS . . . . . . . . . . . . NPIPL1:uc002dqq.2:exon3:c.C308T:p.T103M NPIPB8:NM_001310136:exon4:c.C545T:p.T182M . . 0.16783217 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.448 . @ . . . . . 1 0.571 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T182M|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.4) . . . . . . . -0.6793 -0.936 -0.679 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.577 . . exonic exonic exonic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.325 0.013 . . 37 . 0.528 . . 0.500 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.704 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.388 . . . . . . . 0.100 . HET 0 . . . . . . . . . . . . . . . . . . . 0.040000 . . . . . . 0.015 . . . 0.0002 0.0003 0.0003 0 0.0001 0 0.0007 0 0 0 0 0 0 0 0 0 0 . . 0.558 . 0.000 0.000000 . . 0.040000 . . 1.0E-203 0.000 0.063 . 0.148 . . 0.020 . 0.236 0.000 . . . . . . 1 1538 10 1/0 0,217,255 +. 16 28668228 T C - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution intron GRCh37 28668228 28668228 Chr16(GRCh37):g.28668228T>C 696+239 696+239 NM_001310136.1:c.696+239T>C p.? p.? 6 6 239 5' 86.9112 X.85 0.995579 2.09861 86.9112 X.85 0.995579 2.09861 0 Cryptic Acceptor Weakly Activated 28668231 I.99 0.021557 71.5337 3.05369 0.012781 77.7104 transition T C T>C 0.000 0.528 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||NPIPB8|mRNA|CODING|NM_001310136|) . . . . . . . -0.3044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intronic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 ENST00000526428:c.*32T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs40830 rs40830 rs40830 rs40830 1 1538 10 1/0 0,253,255 +. 16 28669359 C T - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution missense exon GRCh37 28669359 28669359 Chr16(GRCh37):g.28669359C>T 707 707 NM_001310136.1:c.707C>T p.Ala236Val p.Ala236Val 7 11 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.965292 7.32235 0.00152044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.063 -0.037 A Ala GCG 0.107 V Val GTG 0.468 236 5 2 Western lowland gorilla 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 110.77 0.00 Tolerated 1 III.78 181 PASS . . . . . . . . . . . ENSG00000255524:ENST00000529716:exon7:c.C707T:p.A236V . NPIPB8:NM_001310136:exon7:c.C707T:p.A236V . . 0.11612903 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.176 . @ . . . . . 1 0.112 . . 155.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A236V|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.7) . . . . . . . -0.9205 -1.138 -0.920 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.414 . . exonic intronic exonic . . . @ . . . 0.27 0.2 182 ENSG00000255524 NPIPL1 NPIPB8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.093 0.004 . . 37 . 0.300 . . 0.378 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.443 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.241 . . . . . . . 0.310 . LowAF . . . . . . . . . . . . . . . . . . . . 0.120000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.000 0.000000 . . 0.120000 . . 1.0E-181 0.000 0.063 . 0.016 . . 0.037 . 0.004 0.000 . . rs465903 rs465903 rs465903 rs465903 1 1538 10 1/0 0,209,255 +. 16 28669635 C T - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution missense exon GRCh37 28669635 28669635 Chr16(GRCh37):g.28669635C>T 983 983 NM_001310136.1:c.983C>T p.Pro328Leu p.Pro328Leu 7 287 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition C T C>T 0.000 -14.080 P Pro CCG 0.115 L Leu CTG 0.404 328 5 5 White-tuffed-ear marmoset -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C65 0.00 97.78 Deleterious 0 III.78 214 PASS . . . . . . . . . . . ENSG00000255524:ENST00000529716:exon7:c.C983T:p.P328L . NPIPB8:NM_001310136:exon7:c.C983T:p.P328L . . 0.19685039 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.530 . @ . . . . . 1 0.319 . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P328L|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.7) . . . . . . . -0.1374 -0.281 -0.137 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.202 . . exonic intronic exonic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.474 0.024 . . 37 . 0.480 . . 0.450 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.877 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.784 . . . . . . . 0.318 . HET . . . . . . . . . . . . . . . . . . . . 0.010000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.010000 . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 16 28669698 C T - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution missense exon GRCh37 28669698 28669698 Chr16(GRCh37):g.28669698C>T 1046 1046 NM_001310136.1:c.1046C>T p.Pro349Leu p.Pro349Leu 7 350 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition C T C>T 0.000 -14.080 P Pro CCG 0.115 L Leu CTG 0.404 349 5 4 Macaque -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 109.62 25.13 Tolerated 0.35 III.78 185 PASS . . . . . . . . . . . ENSG00000255524:ENST00000529716:exon7:c.C1046T:p.P349L . NPIPB8:NM_001310136:exon7:c.C1046T:p.P349L . . 0.123893805 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.542 . @ . . . . . 1 0.333 . . 113.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P349L|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.7) . . . . . . . -0.1726 -0.303 -0.173 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.593 . . exonic intronic exonic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.592 0.040 . . 37 . 0.527 . . 0.499 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.925 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.784 . . . . . . . 0.312 . LowAF . . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.000000 . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +. 16 28669699 G A - NPIPB8 37490 Nuclear pore complex interacting protein family, member B8 NM_001310136.1 1 1299 1299 NP_001297065.1 E9PQR5 substitution synonymous exon GRCh37 28669699 28669699 Chr16(GRCh37):g.28669699G>A 1047 1047 NM_001310136.1:c.1047G>A p.Pro349= p.Pro349Pro 7 351 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition G A G>A 0.000 -14.080 P Pro CCG 0.115 P Pro CCA 0.274 349 255 PASS . . . . . . . . . . . ENSG00000255524:ENST00000529716:exon7:c.G1047A:p.P349P . NPIPB8:NM_001310136:exon7:c.G1047A:p.P349P . . 0.35135135 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 111.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P349|NPIPB8|mRNA|CODING|NM_001310136|NM_001310136.ex.7) . . . . . . . -0.2961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . synonymous_SNV . . . exonic intronic exonic . . . @ . . . . . . ENSG00000255524 NPIPL1 NPIPB8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs671311 rs671311 rs671311 rs671311 1 1538 10 1/0 0,243,255 +. 16 28746182 G A - EIF3C 3279 Eukaryotic translation initiation factor 3, subunit C NM_001037808.2 1 3140 2742 NP_001032897.1 Q99613 substitution intron GRCh37 28746182 28746182 Chr16(GRCh37):g.28746182G>A 2408+18 2408+18 NM_001037808.2:c.2408+18G>A p.? p.? 18 18 603916 18 5' 84.1408 9.87848 0.942715 X.96 84.1408 9.87848 0.942715 X.95 0 transition G A G>A 0.024 0.851 215 PASS . . . . . . . . . . . . . . . . 0.19806764 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 207.0 . . . . . . . . . . -0.0361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000261419 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +. 16 28773621 T C - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution missense exon GRCh37 28773621 28773621 Chr16(GRCh37):g.28773621T>C 170 170 NM_001287250.1:c.170T>C p.Val57Ala p.Val57Ala 2 50 3' 93.468 7.11356 0.860184 6.74895 93.468 7.11356 0.860184 VII.81 0 Cryptic Acceptor Weakly Activated 28773624 3.75898 0.08352 77.3183 III.92 0.072022 83.495 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 0 2 2 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -14.080 V Val GTA 0.114 A Ala GCA 0.226 57 5 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 228.86 0.00 Tolerated 1 IV.32 219 PASS . . . . . . . . . . . ENSG00000196993:ENST00000550983:exon3:c.T161C:p.V54A . . . . 0.21276596 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.004 . @ . . . . . 1 0.003 . . 47.0 . . . . . . . . . . -1.0204 -1.031 -1.020 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.460 . . exonic exonic exonic . . . @ . . . 0.51 0.39 182 ENSG00000196993 NPIPL1 NPIPB9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.375 0.016 . . 37 . 0.198 . . 0.212 . . . 0.065 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 0.010 . . . . . . . 0.199 . HET 1 . . . . . . . . . . . . . . . ENST00000550983 . . . 0.300000 . . . . . . 0.005 . . . . . . . . . . . . . 0 . . 0 0 0 . . . 0.246 . . . . . 0.300000 . . 1.0E-219 0.000 0.063 . 0.016 . . 0.006 . 0.001 . . . rs1064931 rs1064931 rs1064931 rs1064931 1 1538 10 1/0 0,255,255 +. 16 28777756 C T - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution missense exon GRCh37 28777756 28777756 Chr16(GRCh37):g.28777756C>T 545 545 NM_001287250.1:c.545C>T p.Thr182Met p.Thr182Met 4 -55 5' 73.3142 5.95993 0.744538 0 73.3142 5.95993 0.744538 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1016 0 476 10 58 276 132 10 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 275 Exomes transition C T C>T 0.028 0.125 T Thr ACG 0.116 M Met ATG 1.000 182 5 4 Western lowland gorilla -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 215.09 64.73 Deleterious 0 IV.32 179 PASS . . . . . . . . . . . . . . . . 0.112 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.273 . @ . . . . . 1 0.596 . . 125.0 . . . . . . . . . . -0.5771 -0.905 -0.577 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.577 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196993 NPIPL1 NPIPB9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.972 0.665 . . 37 . 0.587 . . 0.476 . . . 0.456 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.635 . . 0 0 0 0 0 0 . 0.899 . . 0.739 . . . . . . 0 0.386 . . . . . . . 0.054 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.050000 . . . . . . 0.005 . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.558 . 0.149 0.149000 . . 0.050000 . . 1.0E-179 0.001 0.137 . 0.090 0.009 . 0.015 . 0.021 0.149 -1.380 . . . . . 1 1538 10 1/0 0,218,255 +. 16 28782353 T C - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution intron GRCh37 28782353 28782353 Chr16(GRCh37):g.28782353T>C 696+239 696+239 NM_001287250.1:c.696+239T>C p.? p.? 6 6 239 5' 86.9112 X.85 0.995579 2.09861 86.9112 X.85 0.995579 2.09861 0 Cryptic Acceptor Weakly Activated 28782356 I.99 0.021557 71.5337 3.05369 0.012781 77.7104 transition T C T>C 0.114 0.125 196 PASS . . . . . . . . . . . . . . . . 0.1521739 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.3580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.34 182 ENSG00000196993 NPIPL1 NPIPB9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs40830 rs40830 rs40830 rs40830 1 1538 10 1/0 0,255,255 +. 16 28783484 C T - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution missense exon GRCh37 28783484 28783484 Chr16(GRCh37):g.28783484C>T 707 707 NM_001287250.1:c.707C>T p.Ala236Val p.Ala236Val 7 11 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.965292 7.32235 0.00152044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -1.328 A Ala GCG 0.107 V Val GTG 0.468 236 5 4 Western lowland gorilla 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 65.28 0.00 Tolerated 0.42 IV.32 176 PASS . . . . . . . . . . . . . . . . 0.104575165 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.154 . @ . . . . . 1 0.111 . . 153.0 . . . . . . . . . . -1.4397 -1.624 -1.440 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.414 . . exonic exonic exonic . . . @ . . . 0.28 0.36 182 ENSG00000196993 NPIPL1 NPIPB9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.928 0.370 . . 37 . 0.191 . . 0.083 . . . 0.358 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.481 . . 0 0 0 0 0 0 . 0.432 . . 0.312 . . . . . . 0 0.253 . . . . . . . 0.234 . LowAF 0.2 . . . . . . . . . . . . . . . . . . . 0.140000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -1.371 -1.371000 . . 0.140000 . . 1.0E-176 0.001 0.137 . 0.062 0.004 . 0.035 . 0.030 -1.371 -1.380 . rs465903 rs465903 rs465903 rs465903 1 1538 10 1/0 0,208,255 +. 16 28783760 C T - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution missense exon GRCh37 28783760 28783760 Chr16(GRCh37):g.28783760C>T 983 983 NM_001287250.1:c.983C>T p.Pro328Leu p.Pro328Leu 7 287 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition C T C>T 0.000 -14.080 P Pro CCG 0.115 L Leu CTG 0.404 328 5 5 Western lowland gorilla -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C65 0.00 97.78 Deleterious 0 IV.32 196 PASS . . . . . . . . . . . . . . . . 0.1484375 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.532 . @ . . . . . 1 0.335 . . 128.0 . . . . . . . . . . 0.0958 -0.115 0.096 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.502 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196993 NPIPL1 NPIPB9 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.999 0.978 . . 37 . 0.575 . . 0.431 . . . 0.668 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.904 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.784 . . . . . . . 0.284 . LowAF 0 . . . . . . . . . . . . . . . . . . . 0.010000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.246 . . . . . 0.010000 . . 1.0E-196 0.003 0.159 . 0.043 . . 0.157 . 0.242 . . . . . . . 1 1538 10 1/0 0,220,255 +. 16 28783824 G A - NPIPB9 41987 Nuclear pore complex interacting protein family, member B9 NM_001287250.1 1 1405 1299 NP_001274179.1 E9PQR5 substitution synonymous exon GRCh37 28783824 28783824 Chr16(GRCh37):g.28783824G>A 1047 1047 NM_001287250.1:c.1047G>A p.Pro349= p.Pro349Pro 7 351 3' 90.4337 XI.63 0.960909 7.63789 90.4337 XI.63 0.960909 7.63789 0 transition G A G>A 0.000 -14.080 P Pro CCG 0.115 P Pro CCA 0.274 349 252 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.3004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.32 182 ENSG00000196993 NPIPL1 NPIPB9 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs671311 rs671311 rs671311 rs671311 1 1538 10 1/0 0,251,255 +rs370538925 (chr16:29049063 C/G) 16 29049063 C G Not on a known gene +. (chr16:29057684 C/T) 16 29057684 C T Not on a known gene +. (chr16:29057701 G/A) 16 29057701 G A Not on a known gene +. (chr16:29062014 G/C) 16 29062014 G C Not on a known gene +rs200075919 (chr16:29063417 C/T) 16 29063417 C T Not on a known gene +. (chr16:29063466 T/TA) 16 29063466 T TA Not on a known gene +rs796341971 16 29394758 G T - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution missense exon GRCh37 29394758 29394758 Chr16(GRCh37):g.29394758G>T 1495 1495 NM_001310137.1:c.1495C>A p.Pro499Thr p.Pro499Thr 7 853 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 rs796341971 no no 0 G 0.000000 0 0.009681 0.084746 0.012479 0.004950 0.022099 0.008637 0.002641 0.003759 0.005882 0.084746 60 10 15 2 16 9 6 1 1 6198 118 1202 404 724 1042 2272 266 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 10 15 2 16 9 6 1 1 0 0 0 0 0 0 0 0 0 PASS 1394 Exomes transversion C A C>A 0.000 -14.080 P Pro CCT 0.283 T Thr ACT 0.243 499 5 1 -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000254206:ENST00000524087:exon8:c.C1495A:p.P499T . NPIPB11:NM_001310137:exon7:c.C1495A:p.P499T . . 0.91752577 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.371 . @ . . . . . 1 0.533 . . 97.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P499T|NPIPB11|mRNA|CODING|NM_001310137|NM_001310137.ex.7) . . . . . . . -0.1860 -0.311 -0.186 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.174 . . exonic ncRNA_intronic exonic . . . @ . . . . . . ENSG00000254206 AF072097 NPIPB11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.323 0.013 . . 37 . 0.226 . . 0.332 . . . 0.534 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.505 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.410 . . . . . . . 0.065 . HOM . . . . . . . . . . . . . . . . ENST00000524087 . . . 0.000000 . . . . . . 0.009 . . . 0.0847 0.0097 0.0125 0.0050 0.0221 0.0038 0.0026 0.0059 0.0086 . . . . . . . . . . 0.246 . . . . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.090 . . 0.185 . 0.269 . . . . . . . 1 1538 10 1/0 0,253,250 +rs758595719 16 29395195 C T - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution missense exon GRCh37 29395195 29395195 Chr16(GRCh37):g.29395195C>T 1058 1058 NM_001310137.1:c.1058G>A p.Arg353His p.Arg353His 7 416 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 rs758595719 yes no Frequency 1 C 0.000000 0 0.000081 0.000149 0.000054 0.000000 0.000000 0.000000 0.000130 0.000182 0.000000 0.000182 8 1 1 0 0 0 5 1 0 99218 6706 18634 3812 9046 14276 38526 5498 2720 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 0 0 0 5 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -14.080 R Arg CGT 0.082 H His CAT 0.413 353 5 1 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000254206:ENST00000524087:exon8:c.G1058A:p.R353H . NPIPB11:NM_001310137:exon7:c.G1058A:p.R353H . . 0.11042945 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.467 . @ . . . . . 1 0.844 . . 163.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R353H|NPIPB11|mRNA|CODING|NM_001310137|NM_001310137.ex.7) . . . . . . . -0.5846 -0.696 -0.585 c . . . . . 1.613e-05 . . . . . . . . . . . 0 0 0 0 0 0 0 0 nonsynonymous_SNV . nonsynonymous_SNV 0.199 . . exonic ncRNA_exonic exonic . . . @ . . . . . . ENSG00000254206 AF072097 NPIPB11 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.483 0.025 . . 37 . 0.113 . . 0.307 . . . 0.181 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.206 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.269 . . . . . . . 0.006 . LowAF . rs758595719 . . . . . . . . . . . . . . ENST00000524087 . . . 0.070000 . . . . . . 0.007 . . . 0 5.582e-05 5.495e-05 0 0 0 0.0001 0 0 0.0006 0.0003 0 0 0 0.0005 0.0002 0 . . 0.924 . . . . . 0.070000 . . 1.0E-179 0.002 0.151 . 0.062 0.005 . 0.174 . 0.266 . 0.057 . rs16951419 rs16951419 . . 1 1538 10 1/0 0,206,255 +. 16 29396853 C T - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution intron GRCh37 29396853 29396853 Chr16(GRCh37):g.29396853C>T 642+118 642+118 NM_001310137.1:c.642+118G>A p.? p.? 6 6 118 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.004 -0.360 178 PASS . . . . . . . . . . . . . . . . 0.108571425 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.107 . @ . . . . . 2 0.060 . . 175.0 . . INTRON(MODIFIER||||NPIPB11|mRNA|CODING|NM_001310137|) . . . . . . . -0.0905 -0.180 -0.091 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . 0.098 @ . . . . . . ENSG00000198106 NPIPL1 NPIPB11 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.062 . . . . . . . . . . . . . . . . . . . . . . 0.047 . . . . . . . . 1.0E-178 0.494 0.267 . 0.170 0.123 . 0.289 . 0.269 . 0.143 . rs256387 rs256387 rs256387 rs256387 1 1538 10 1/0 0,203,255 +. 16 29397089 T C - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution intron GRCh37 29397089 29397089 Chr16(GRCh37):g.29397089T>C 606+27 606+27 NM_001310137.1:c.606+27A>G p.? p.? 5 5 27 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.70519 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition A G A>G 0.000 -0.521 209 PASS . . . . . . . . . . . . . . . . 0.18292683 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 164.0 . . INTRON(MODIFIER||||NPIPB11|mRNA|CODING|NM_001310137|) . . . . . . . -0.3850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000198106 NPIPL1 NPIPB11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs113663049 rs113663049 1 1538 10 1/0 0,212,255 +. 16 29397147 C T - NPIPB11 37453 Nuclear pore complex interacting protein family, member B11 NM_001310137.1 -1 3497 3369 NP_001297066.1 substitution missense exon GRCh37 29397147 29397147 Chr16(GRCh37):g.29397147C>T 575 575 NM_001310137.1:c.575G>A p.Arg192Gln p.Arg192Gln 5 30 3' 75.8135 5.81957 0.057516 1.30576 75.8135 5.81957 0.057516 0 0 transition G A G>A 0.000 -1.812 R Arg CGG 0.207 Q Gln CAG 0.744 192 5 3 Sumatran orangutan 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.31 0.00 Tolerated 0.12 IV.32 204 PASS . . . . . . . . . . . ENSG00000254206:ENST00000524087:exon6:c.G575A:p.R192Q . NPIPB11:NM_001310137:exon5:c.G575A:p.R192Q . . 0.16935484 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.275 . @ . . . . . 1 0.249 . . 124.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R192Q|NPIPB11|mRNA|CODING|NM_001310137|NM_001310137.ex.5) . . . . . . . -1.4153 -1.642 -1.415 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . nonsynonymous_SNV 0.460 . . exonic intronic exonic . . 0.093 @ . . . . . . ENSG00000254206 NPIPL1 NPIPB11 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.257 . . 0.206 . . . 0.404 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.350 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.327 . . . . . . . 0.048 . HET 0.17 . . . . . . . . . . . . . . . ENST00000524087 0.551 -1.1 . 0.230000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.924 . -1.961 -1.961000 . . 0.230000 . . 1.0E-204 0.000 0.063 . 0.016 0.004 . 0.015 . 0.004 -1.961 -1.297 . rs256385 rs256385 rs256385 rs256385 1 1538 10 1/0 0,223,255 +. 16 29442670 C A - SMG1P6 49863 SMG1P6, nonsense mediated mRNA decay associated PI3K related kinasepseudogene 6 NR_135312.1 -1 3132 0 substitution exon GRCh37 29442670 29442670 Chr16(GRCh37):g.29442670C>A 2135 2135 NR_135312.1:n.2135G>T 15 -71 5' 82.5385 VI.58 0.988414 0 82.5385 VI.58 0.988414 0 0 0.000046 0.000000 0.000187 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000187 1 0 1 0 0 0 0 0 0 21698 1860 5358 370 4248 3144 5900 244 574 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Exomes transversion G T G>T 0.953 0.286 255 PASS . . . . . . . . . . . . AK096982:uc021tfy.1:exon9:c.G1039T:p.A347S . . . 0.8 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 10.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000254634 AK096982 . . . dist\x3d27547\x3bdist\x3d17996 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.609e-05 0.0002 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 29455641 T C - SMG1P6 49863 SMG1P6, nonsense mediated mRNA decay associated PI3K related kinasepseudogene 6 NR_135312.1 -1 3132 0 substitution intron GRCh37 29455641 29455641 Chr16(GRCh37):g.29455641T>C 327+78 327+78 NR_135312.1:n.327+78A>G p.? p.? 2 2 78 5' 96.9453 11.0785 0.998391 3.41541 96.9453 11.0785 0.998391 3.36634 0 New Donor Site 29455642 6.69345 0.989804 83.257 transition A G A>G 0.323 0.770 255 PASS . . . . . . . . . . . . . . . . 0.4347826 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . . . . . LOC440354 . . . dist\x3d40518\x3bdist\x3d5025 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3916368 rs3916368 rs3916368 rs3916368 1 1538 10 1/0 0,255,255 +rs772856845 16 29496768 G A - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution synonymous exon GRCh37 29496768 29496768 Chr16(GRCh37):g.29496768G>A 1029 1029 NM_001355401.1:c.1029C>T p.Pro343= p.Pro343Pro 8 387 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 0.000081 0.000083 0.000000 0.000000 0.000225 0.000000 0.000103 0.000000 0.000000 0.000225 6 1 0 0 2 0 3 0 0 74452 12082 10882 1414 8900 6032 29060 3870 2212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 2 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.031 0.044 P Pro CCC 0.328 P Pro CCT 0.283 343 193 PASS . . . . . . . . . . . . . . . . 0.14214464 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 401.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000169203 LOC440354 . . . dist\x3d17869\x3bdist\x3d42161 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.06e-05 0 0 0.0003 0 5.71e-05 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +. 16 29498397 C T - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution intron GRCh37 29498397 29498397 Chr16(GRCh37):g.29498397C>T 642+118 642+118 NM_001355401.1:c.642+118G>A p.? p.? 7 7 118 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.000 -0.360 184 PASS . . . . . . . . . . . . . . . . 0.12244898 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.080 . @ . . . . . 3 0.026 . . 49.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1249 -0.186 -0.125 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . 0.094 @ . . . 0.49 0.33 182 ENSG00000198106 LOC440354 . . . dist\x3d19498\x3bdist\x3d40532 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.051 . . . . . . . . . . . . . . . . . . . . . . 0.031 . . . . . . . . 9.999999999999999E-185 0.560 0.272 . 0.128 0.136 . 0.286 . 0.247 . 0.057 . rs256387 rs256387 rs256387 rs256387 1 1538 10 1/0 0,255,255 +. 16 29498633 T C - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution intron GRCh37 29498633 29498633 Chr16(GRCh37):g.29498633T>C 606+27 606+27 NM_001355401.1:c.606+27A>G p.? p.? 6 6 27 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.70519 0 0.002970 0.000000 0.019608 0.000000 0.000000 0.000000 0.003356 0.000000 0.000000 0.019608 3 0 2 0 0 0 1 0 0 1010 36 102 8 4 0 298 526 36 0.333333 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 103 Genomes transition A G A>G 0.000 -0.521 225 PASS . . . . . . . . . . . . . . . . 0.22916667 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 144.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.48 0.37 182 ENSG00000198106 LOC440354 . . . dist\x3d19734\x3bdist\x3d40296 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0030 0.0196 0 0 0 0.0034 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs113663049 rs113663049 1 1538 10 1/0 0,222,255 +. 16 29498642 A G - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution intron GRCh37 29498642 29498642 Chr16(GRCh37):g.29498642A>G 606+18 606+18 NM_001355401.1:c.606+18T>C p.? p.? 6 6 18 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.63221 0 Cryptic Acceptor Weakly Activated 29498637 5.85635 0.712674 83.3645 6.33715 0.765819 79.8189 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 872 30 90 10 2 0 254 456 30 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 113 Genomes transition T C T>C 0.000 -2.054 181 PASS . . . . . . . . . . . . . . . . 0.11564626 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 147.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.45 0.33 182 ENSG00000198106 LOC440354 . . . dist\x3d19743\x3bdist\x3d40287 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs256386 rs256386 rs256386 rs256386 1 1538 10 1/0 0,211,255 +. 16 29498691 C T - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution missense exon GRCh37 29498691 29498691 Chr16(GRCh37):g.29498691C>T 575 575 NM_001355401.1:c.575G>A p.Arg192Gln p.Arg192Gln 6 30 3' 75.8135 5.81957 0.057516 1.30576 75.8135 5.81957 0.057516 0 0 transition G A G>A 0.000 -0.602 R Arg CGG 0.207 Q Gln CAG 0.744 192 3 2 Sumatran orangutan 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.31 0.00 Deleterious 0 IV.32 226 PASS . . . . . . . . . . . . NPIPL3:uc021tgb.1:exon5:c.G575A:p.R192Q . . . 0.23140496 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.309 . @ . . . . . 3 0.496 . . 121.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9228 -1.159 -0.923 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.460 . . exonic exonic intergenic . . 0.094 @ . . . 0.41 0.7 182 ENSG00000169203 NPIPL3 . . . dist\x3d19792\x3bdist\x3d40238 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.005 0.001 . . 37 . 0.258 . . 0.252 . . . . 0.090 . . . . . . . . . . . . . . . 0.322 . . . . . . 0 . . . . . . . . . . . . . 0.266 . . . . . . . 0.204 . HET 0 . . . . . . . . . . . . . . . . 0.532 -1.06 . 0.350000 . . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -0.637 -0.637000 . . 0.350000 . . 1.0000000000000001E-226 0.000 0.063 . 0.062 0.366 . 0.028 . 0.019 -0.637 0.057 . rs256385 rs256385 rs256385 rs256385 1 1538 10 1/0 0,230,255 +. 16 29502920 C A - NPIPB12 37491 Nuclear pore complex interacting protein family, member B12 NM_001355401.1 -1 3061 2787 NP_001342330.1 substitution missense exon GRCh37 29502920 29502920 Chr16(GRCh37):g.29502920C>A 413 413 NM_001355401.1:c.413G>T p.Gly138Val p.Gly138Val 5 64 3' 73.4942 4.79688 0.196168 4.75205 73.4942 4.79688 0.196168 4.56513 0 Cryptic Acceptor Strongly Activated 29502911 3,00E-06 64.0144 0.606036 2.8e-05 69.4672 transversion G T G>T 0.000 -1.247 G Gly GGC 0.342 V Val GTC 0.240 138 3 2 Sumatran orangutan -3 -3 -6 0.74 0 9 5.IX 3 84 109 C15 93.77 78.01 Deleterious 0.02 IV.32 191 PASS . . . . . . . . . . . ENSG00000169203:ENST00000550665:exon5:c.G413T:p.G138V NPIPL3:uc021tgb.1:exon4:c.G413T:p.G138V . . . 0.13636364 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.082 . @ . . . . . 3 0.162 . . 176.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9423 -1.206 -0.942 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.515 . . exonic exonic intergenic . . 0.093 @ . . . 0.39 0.62 182 ENSG00000169203 NPIPL3 . . . dist\x3d24021\x3bdist\x3d36009 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . 0.319 . . 0.235 . . . . 0.090 . . . . . . . . . . . . . . . 0.861 . . . . . . 0 . . . . . . . . . . . . . 0.193 . . . . . . . 0.640 . LowAF . . . . . . . . . . . . . . . . ENST00000550665 0.551 -1.1 . 0.210000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . 0.609 . -1.266 -1.266000 . . 0.210000 . . 1.0E-191 0.000 0.063 . 0.090 0.033 . 0.069 . 0.252 -1.266 0.057 . rs698063 rs698063 rs698063 rs698063 1 1538 10 1/0 0,205,255 +. 16 29559975 C T - SMG1P2 49859 SMG1P2, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 2 XR_001733754.1 -1 4620 0 substitution exon GRCh37 29559975 29559975 Chr16(GRCh37):g.29559975C>T 1996 1996 XR_001733754.1:n.1996G>A 12 109 3' 89.3066 11.0173 0.974591 9.72696 89.3066 11.0173 0.974591 9.72696 0 transition G A G>A 1.000 4.079 255 PASS . . . . . . . . . . . . . . . . 0.5483871 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 31.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D427N|SMG1P2|Non-coding_transcript|NON_CODING|NR_002473|NR_002473.ex.10) . . . . . . . 1.0031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.69 0.49 182 ENSG00000205534 LOC440354 SMG1P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.07 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71270118 rs71270118 rs71270118 1 1538 10 1/0 0,255,255 +. 16 29816381 C G - KIF22 6391 Kinesin family member 22 NM_007317.2 1 2120 1998 NP_015556.1 Q14807 substitution intron GRCh37 29816381 29816381 Chr16(GRCh37):g.29816381C>G 1890+34 1890+34 NM_007317.2:c.1890+34C>G p.? p.? 12 12 603213 34 5' 71.8945 6.37419 0.861993 XI.82 71.8945 6.37419 0.861993 XI.83 0 transversion C G C>G 0.000 -1.812 179 PASS . . . . . . . . . . . . . . . . 0.11235955 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 1.0253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000079616 KIF22 KIF22 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 16 29816381 C G - MAZ 6914 MYC-associated zinc finger protein (purine-binding transcription factor) NM_001042539.2 1 2776 1482 NP_001036004.1 substitution upstream GRCh37 29816381 29816381 Chr16(GRCh37):g.29816381C>G -1642 -1642 NM_001042539.2:c.-1642C>G p.? p.? 1 600999 -1834 5' 95.6376 X.36 0.995528 16.3061 95.6376 X.36 0.995528 16.3061 0 transversion C G C>G 0.000 -1.812 179 PASS . . . . . . . . . . . . . . . . 0.11235955 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . 1.0253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000079616 KIF22 KIF22 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 16 30078943 C G - ALDOA 414 Aldolase, fructose-bisphosphate A NM_001243177.1 1 1733 1257 NP_001230106.1 substitution synonymous exon GRCh37 30078943 30078943 Chr16(GRCh37):g.30078943C>G 447 447 NM_001243177.1:c.447C>G p.Pro149= p.Pro149Pro 4 103850 -40 5' 94.6745 X.23 0.997794 8.348 94.6745 X.23 0.997794 8.68111 0 Fructose-bisphosphate aldolase, class-I transversion C G C>G 0.984 0.528 P Pro CCC 0.328 P Pro CCG 0.115 149 255 PASS . . . . . . . . . . . . . . . . 0.4631579 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . 1.0013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000149925 ALDOA ALDOA . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 30234740 G C - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution synonymous exon GRCh37 30234740 30234740 Chr16(GRCh37):g.30234740G>C 3027 3027 NM_001321892.1:c.3027C>G p.Ala1009= p.Ala1009Ala 9 2385 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 Cryptic Acceptor Strongly Activated 30234741 4.84252 0.048024 77.5739 5.79968 0.067346 77.5739 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 2 0 0 0 0 4 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.008 -2.135 A Ala GCC 0.403 A Ala GCG 0.107 1009 185 PASS . . . . . . . . . . . . . . . . 0.123931624 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 234.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P1022R|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.7) . . . . . . . -0.8312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.25 182 ENSG00000198064 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs1053313 rs1053313 rs1053313 rs1053313 1 1538 10 1/0 0,192,255 +rs200827905 16 30236738 G A - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution synonymous exon GRCh37 30236738 30236738 Chr16(GRCh37):g.30236738G>A 1029 1029 NM_001321892.1:c.1029C>T p.Pro343= p.Pro343Pro 9 387 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 rs200827905 yes no Frequency 1 G 0.000000 0 0.001585 0.000000 0.000000 0.000000 0.000000 0.000000 0.006494 0.000000 0.017857 0.006494 2 0 0 0 0 0 1 0 1 1262 270 98 4 70 0 154 610 56 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 118 Genomes transition C T C>T 0.000 -14.080 P Pro CCC 0.328 P Pro CCT 0.283 343 188 PASS . . . . . . . . . . . . . . . . 0.13138686 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 137.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P356L|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.7) . . . . . . . -0.3524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.38 0.24 182 ENSG00000198064 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200827905 . . . . . . ID\x3dCOSM1318597\x3bOCCURENCE\x3d1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0016 0 0 0 0 0.0065 0.0179 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs200827905 rs200827905 1 1538 10 1/0 0,215,255 +. 16 30236852 A G - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution synonymous exon GRCh37 30236852 30236852 Chr16(GRCh37):g.30236852A>G 915 915 NM_001321892.1:c.915T>C p.Pro305= p.Pro305Pro 9 273 3' 90.4337 XI.63 0.960909 7.36896 90.4337 XI.63 0.960909 7.36896 0 0.000394 0.000000 0.000426 0.000000 0.000965 0.000242 0.000492 0.000000 0.000000 0.000965 6 0 1 0 2 1 2 0 0 15222 1682 2348 344 2072 4128 4068 138 442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 2 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 101 Exomes transition T C T>C 0.000 -14.080 P Pro CCT 0.283 P Pro CCC 0.328 305 199 PASS . . . . . . . . . . . . . . . . 0.15517241 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L318P|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.7) . . . . . . . -0.3141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.4 0.26 182 ENSG00000198064 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0.0004 0 0.0010 0 0.0005 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs28465269 rs28465269 rs28465269 rs28465269 1 1538 10 1/0 0,255,255 +. 16 30238290 C T - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution intron GRCh37 30238290 30238290 Chr16(GRCh37):g.30238290C>T 642+195 642+195 NM_001321892.1:c.642+195G>A p.? p.? 8 8 195 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.000 -1.409 194 PASS . . . . . . . . . . . . . . . . 0.14457831 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . INTRON(MODIFIER||||LOC613037|Non-coding_transcript|NON_CODING|NR_002555|) . . . . . . . -0.5875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000183604 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +. 16 30238367 C T - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution intron GRCh37 30238367 30238367 Chr16(GRCh37):g.30238367C>T 642+118 642+118 NM_001321892.1:c.642+118G>A p.? p.? 8 8 118 5' 86.9112 X.85 0.995579 3.17924 86.9112 X.85 0.995579 3.17924 0 transition G A G>A 0.004 -0.279 191 PASS . . . . . . . . . . . . . . . . 0.13725491 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.083 . @ . . . . . 2 0.029 . . 153.0 . . INTRON(MODIFIER||||LOC613037|Non-coding_transcript|NON_CODING|NR_002555|) . . . . . . . -0.1180 -0.185 -0.118 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . 0.094 @ . . . 0.5 0.29 182 ENSG00000183604 LOC613037 LOC613037 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.065 . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . 1.0E-191 0.608 0.276 . 0.141 . . 0.297 . 0.269 . . . rs256387 rs256387 rs256387 rs256387 1 1538 10 1/0 0,211,255 +. 16 30238603 T C - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution intron GRCh37 30238603 30238603 Chr16(GRCh37):g.30238603T>C 606+27 606+27 NM_001321892.1:c.606+27A>G p.? p.? 7 7 27 5' 82.5385 VI.58 0.968057 4.45259 82.5385 VI.58 0.968057 4.70519 0 transition A G A>G 0.000 0.044 210 PASS . . . . . . . . . . . . . . . . 0.18579236 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 183.0 . . INTRON(MODIFIER||||LOC613037|Non-coding_transcript|NON_CODING|NR_002555|) . . . . . . . -0.4519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.45 182 ENSG00000183604 LOC613037 LOC613037 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . rs113663049 rs113663049 1 1538 10 1/0 0,208,255 +. 16 30238661 C T - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution missense exon GRCh37 30238661 30238661 Chr16(GRCh37):g.30238661C>T 575 575 NM_001321892.1:c.575G>A p.Arg192Gln p.Arg192Gln 7 30 3' 75.8135 5.81957 0.057516 1.30576 75.8135 5.81957 0.057516 0 0 transition G A G>A 0.000 -1.005 R Arg CGG 0.207 Q Gln CAG 0.744 192 4 3 Sumatran orangutan 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 241.31 0.00 Deleterious 0 IV.32 183 PASS . . . . . . . . . . . ENSG00000198064:ENST00000520915:exon6:c.G575A:p.R192Q . . . . 0.11888112 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.138 . @ . . . . . 1 0.466 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G205S|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.5) . . . . . . . -0.8707 -1.157 -0.871 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.460 . . exonic exonic ncRNA_exonic . . 0.077 @ . . . 0.55 0.67 182 ENSG00000198064 LOC613037 LOC613037 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.149 0.006 . . 37 . 0.303 . . 0.240 . . . . . . . . . . . . . . . . . . . . 0.299 . . . . . . 0 . . 0.485 . . 0.475 . . . . . . 0 0.162 . . . . . 0.026 . 0.118 . LowAF 0.01 . . . . . . . . . . . . . I.16 . . 0.845 -1.69 . 0.360000 A6NJU9 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.135 -1.135000 . . 0.360000 . . 1.0E-183 0.000 0.063 . 0.043 . . 0.023 . 0.032 -1.135 . . rs256385 rs256385 rs256385 rs256385 1 1538 10 1/0 0,213,255 +. 16 30242893 C A - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution missense exon GRCh37 30242893 30242893 Chr16(GRCh37):g.30242893C>A 413 413 NM_001321892.1:c.413G>T p.Gly138Val p.Gly138Val 6 64 3' 73.4942 4.79688 0.196168 4.75205 73.4942 4.79688 0.196168 4.56513 0 Cryptic Acceptor Strongly Activated 30242884 3,00E-06 64.0144 0.606036 2.8e-05 69.4672 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 6 0 0 4 0 4 28 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 614 Genomes transversion G T G>T 0.000 -1.247 G Gly GGC 0.342 V Val GTC 0.240 138 4 3 Sumatran orangutan -3 -3 -6 0.74 0 9 5.IX 3 84 109 C15 93.77 78.01 Deleterious 0.02 IV.32 205 PASS . . . . . . . . . . . ENSG00000198064:ENST00000520915:exon5:c.G413T:p.G138V . . . . 0.17156863 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.094 . @ . . . . . 1 0.156 . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A151S|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.4) . . . . . . . -0.6785 -1.019 -0.678 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.515 . . exonic exonic ncRNA_exonic . . 0.094 @ . . . 0.7 0.63 182 ENSG00000198064 LOC613037 LOC613037 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.126 0.005 . . 37 . 0.563 . . 0.562 . . . . . . . . . . . . . . . . . . . . 0.779 . . . . . . 0 . . 0.689 . . 0.764 . . . . . . 0 0.206 . . . . . . . 0.088 . HET 0.29 . . . . . . . . . . . . . . . ENST00000520915 0.532 -1.06 . 0.190000 A6NJU9 . . . . . 0.006 . . . . . . . . . . . . 0 0 . . 0 0 0 . . . 0.558 . -1.298 -1.298000 . . 0.190000 . . 1.0E-205 0.000 0.063 . 0.114 . . 0.077 . 0.251 -1.298 . . rs698063 rs698063 rs698063 rs698063 1 1538 10 1/0 0,202,255 +. 16 30246885 C A - NPIPB13 41989 Nuclear pore complex interacting protein family, member B13 NM_001321892.1 -1 3904 3417 NP_001308821.1 A6NJU9 substitution missense exon GRCh37 30246885 30246885 Chr16(GRCh37):g.30246885C>A 136 136 NM_001321892.1:c.136G>T p.Ala46Ser p.Ala46Ser 4 16 3' 93.468 7.11356 0.883348 6.29501 93.468 7.11356 0.868477 6.38959 -0.0056116 transversion G T G>T 0.000 -0.279 A Ala GCT 0.263 S Ser TCT 0.185 46 4 2 Chimp 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 353.86 0.00 Deleterious 0 IV.32 200 PASS . . . . . . . . . . . . . . . . 0.15841584 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.149 . @ . . . . . 1 0.136 . . 101.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W58C|LOC613037|Non-coding_transcript|NON_CODING|NR_002555|NR_002555.ex.2) . . . . . . . -1.4995 -1.651 -1.499 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . 0.453 . . exonic exonic ncRNA_exonic . . 0.093 @ . . . . . . ENSG00000198064 LOC613037 LOC613037 . . . 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.116 0.005 . . 37 . 0.258 . . 0.193 . . . . . . . . . . . . . . . . . . . . 0.219 . . . . . . 0 . . 0.259 . . 0.212 . . . . . . 0 0.446 . . . . . . . 0.146 . HET 0 . . . . . . . . . . . . . . . ENST00000520915 0.551 -1.1 . 0.160000 A6NJU9 . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.280 -0.280000 . . 0.160000 . . 1.0E-200 0.002 0.151 . 0.043 0.021 . 0.048 . 0.037 -0.280 0.057 . . . . . 1 1538 10 1/0 0,231,255 +. 16 30295315 TC T - SMG1P5 49862 SMG1P5, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 5 NR_002453.5 -1 2367 0 deletion downstream GRCh37 30295316 30295316 Chr16(GRCh37):g.30295316del *1023 *1023 NR_002453.5:n.*1023del p.? p.? 13 1463 3' 99.5701 11.422 0.993986 11.712 99.5701 11.422 0.993986 11.712 0 0.000634 0.000475 0.001211 0.000000 0.000000 0.000000 0.000273 0.002774 0.001062 0.002774 19 4 1 0 0 0 4 9 1 29964 8418 826 300 1588 0 14646 3244 942 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 4 1 0 0 0 4 9 1 0 0 0 0 0 0 0 0 0 RF 53 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.4375 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000183604 LOC595101 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0.0012 0 0 0.0028 0.0003 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,36 +. 16 30297410 T C - SMG1P5 49862 SMG1P5, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 5 NR_002453.5 -1 2367 0 substitution intron GRCh37 30297410 30297410 Chr16(GRCh37):g.30297410T>C 1927+78 1927+78 NR_002453.5:n.1927+78A>G p.? p.? 12 12 78 5' 96.9453 11.0785 0.998391 3.41541 96.9453 11.0785 0.998391 3.36634 0 New Donor Site 30297411 6.69345 0.989804 83.257 transition A G A>G 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.34285715 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . -0.1235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.39 0.28 182 ENSG00000183604 LOC595101 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3916368 rs3916368 rs3916368 rs3916368 1 1538 10 1/0 0,255,255 +. 16 30299998 C T - SMG1P5 49862 SMG1P5, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 5 NR_002453.5 -1 2367 0 substitution exon GRCh37 30299998 30299998 Chr16(GRCh37):g.30299998C>T 1709 1709 NR_002453.5:n.1709G>A 11 109 3' 89.3066 11.0173 0.974591 9.72696 89.3066 11.0173 0.974591 9.72696 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 1.000 3.918 255 PASS . . . . . . . . . . . . . . . . 0.5652174 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 46.0 . . . . . . . . . . 1.0083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.69 0.5 182 ENSG00000183604 LOC595101 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71270118 rs71270118 rs71270118 1 1538 10 1/0 0,255,255 +. 16 31089158 A C - ZNF646 29004 Zinc finger protein 646 NM_014699.3 1 6208 5499 NP_055514.3 substitution missense exon GRCh37 31089158 31089158 Chr16(GRCh37):g.31089158A>C 1513 1513 NM_014699.3:c.1513A>C p.Met505Leu p.Met505Leu 2 1592 3' 77.1222 X.26 0.94624 XI.07 77.1222 X.26 0.94624 XI.07 0 Zinc finger, C2H2 Zinc finger, C2H2-like transversion A C A>C 0.961 1.658 M Met ATG 1.000 L Leu CTG 0.404 505 6 6 Little brown bat 2 2 3 0 0 5.VII 4.IX 105 111 15 C0 0.00 14.30 Deleterious 0 IV.32 bad 2.116E-3 7.949E-5 176 PASS . . . . . . . . . . . . . ZNF646:NM_014699:exon2:c.A1513C:p.M505L . . 0.10569106 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.348 . . 123.0 . . . . . . . . . . -0.0501 0.136 -0.050 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.267 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000167395 ZNF646 ZNF646 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.182 0.007 . . 37 . 0.165 . . 0.139 . . . 0.045 0.267 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.318 . . 0 0 0 0 0 0 . 0.335 . . 0.312 . . . . . . 0 0.327 . . . . . 0.695 . 0.614 . LowAF 0.16 . . . . . . . . . . . . . 14.8075 . . V.63 V.63 . 0.220000 O15015-2 . . . . . 0.506 . . V.63 . . . . . . . . . . . . . . . . . . . 0.522 . 2.142 2.142000 . . 0.220000 . . 1.0E-176 0.455 0.264 . 0.604 0.998 . 0.312 . 0.960 2.142 1.062 . . . . . 1 1538 10 1.I 0,0,0 +rs147914949 16 31155064 C T - PRSS36 26906 Protease, serine, 36 NM_173502.4 -1 2839 2568 NP_775773.2 Q5K4E3 substitution missense exon GRCh37 31155064 31155064 Chr16(GRCh37):g.31155064C>T 815 815 NM_173502.4:c.815G>A p.Arg272His p.Arg272His 7 610560 95 3' 76.3902 3.60545 0.310362 2.80321 76.3902 3.60545 0.310362 2.80321 0 Peptidase S1/S6, chymotrypsin/Hap Peptidase S1A, polyserase-2 rs147914949 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000158 0.000000 0.000000 0.000158 20 0 0 0 0 0 20 0 0 277158 24016 34420 10150 18866 30782 126664 25792 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 0 0 0 20 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4394 12993 1 0 1 0.000116279 0 7.69586e-05 0.000116279 0 7.69586e-05 55 transition G A G>A 0.638 0.528 R Arg CGC 0.190 H His CAC 0.587 272 12 12 Fruitfly 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C25 0.00 28.82 Deleterious 0 III.43 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.5113636 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.928 . @ . . . . . 1 1.000 . . 176.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.0786 0.060 0.079 c . . . . . 8.682e-05 . . . 0 9.941e-05 0 0 0 0.0002 0 0 0 6.593e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.895 . . exonic exonic exonic . . 0.354 0.0002 . . . 0.36 0.49 182 ENSG00000178226 PRSS36 PRSS36 . . . 1.000 0.473 . 5 7.69515e-05 64976 4 6.66822e-05 59986 Uncertain_significance . 0 . . . . . . D 0.809 0.127 . . 37 . 0.881 . . 0.816 . . . 0.234 0.288 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.639 . . 0 0 0 0 0 0 . 0.899 . . 0.759 . . . . . . 0 0.546 . . . . . 0.389 . 0.528 . HET 0.01 rs147914949 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 IX.93 0.0 . V.14 III.17 . 0.030000 . . . . 0.000077 . 0.161 . . III.17 0 7.31e-05 0 0 0 0 0.0002 0 0 0 6.467e-05 0 0 0 0 0.0001 0 . . 0.331 . 2.401 2.401000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.604 0.850 . 0.126 . 0.490 2.401 0.033 0.0013 . . rs147914949 rs147914949 1 1538 10 1/0 0,238,255 +rs768149995 16 31503416 G A - C16orf58 25848 Chromosome 16 open reading frame 58 NM_022744.3 -1 2813 1407 NP_073581.2 Q96GQ5 substitution intron GRCh37 31503416 31503416 Chr16(GRCh37):g.31503416G>A 1232-9 1232-9 NM_022744.3:c.1232-9C>T p.? p.? 12 11 -9 3' 73.8213 6.82357 0.691833 5.85324 76.5331 6.85564 0.719442 6.22683 0.0271145 Cryptic Acceptor Weakly Activated 31503407 6.82357 0.691833 73.8213 6.85564 0.719442 76.5331 rs768149995 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000102 0.000000 0.000033 0.000000 0.000000 0.000000 0.000102 2 0 0 1 0 1 0 0 0 245902 15252 33552 9844 17230 30766 111506 22280 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition C T C>T 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.51724136 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.3082 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0 0 0 0 6.093e-05 0 9.471e-06 0 0 0 0 0 6.127e-05 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000140688 C16orf58 C16orf58 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs768149995 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.133e-06 0 0.0001 0 0 0 0 3.25e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs768149995 16 31503416 G A - SLC5A2 11037 Solute carrier family 5 (sodium/glucose cotransporter), member 2 NM_003041.3 1 2273 2019 NP_003032.1 P31639 substitution downstream GRCh37 31503416 31503416 Chr16(GRCh37):g.31503416G>A *1560 *1560 NM_003041.3:c.*1560G>A p.? p.? 14 182381 1787 3' 83.5829 6.06345 0.788653 IV.69 83.5829 6.06345 0.788653 IV.69 0 New Acceptor Site 31503418 0.557334 0.234775 69.8646 rs768149995 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000102 0.000000 0.000033 0.000000 0.000000 0.000000 0.000102 2 0 0 1 0 1 0 0 0 245902 15252 33552 9844 17230 30766 111506 22280 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition G A G>A 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.51724136 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.3082 . . . . . . . . 7.893e-06 . . . 0 1.109e-05 0 0 0 0 0 6.093e-05 0 9.471e-06 0 0 0 0 0 6.127e-05 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000140688 C16orf58 C16orf58 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs768149995 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.133e-06 0 0.0001 0 0 0 0 3.25e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs75838055 (chr16:32399522 A/G) 16 32399522 A G Not on a known gene +rs370683157 (chr16:32487123 T/C) 16 32487123 T C Not on a known gene +. 16 32687050 G A - TP53TG3 30759 TP53 target 3 NM_016212.4 -1 1431 375 NP_057296.1 substitution intron GRCh37 32687050 32687050 Chr16(GRCh37):g.32687050G>A 362+7 362+7 NM_016212.4:c.362+7C>T p.? p.? 1 1 617482 7 5' 81.9786 X.32 0.94557 7.57344 81.9786 X.32 0.860996 6.63248 -0.0298141 Cryptic Acceptor Weakly Activated 32687042 0.185671 72.4814 0.245972 0.201908 74.2912 transition C T C>T 0.134 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000260974 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 32687050 G A - TP53TG3B 37202 TP53 target 3B NM_001099687.3 -1 1431 375 NP_001093157.1 substitution intron GRCh37 32687050 32687050 Chr16(GRCh37):g.32687050G>A 362+7 362+7 NM_001099687.3:c.362+7C>T p.? p.? 1 1 7 5' 81.9786 X.32 0.94557 7.57344 81.9786 X.32 0.860996 6.63248 -0.0298141 Cryptic Acceptor Weakly Activated 32687042 0.185671 72.4814 0.245972 0.201908 74.2912 transition C T C>T 0.134 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000260974 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 32687050 G A - TP53TG3C 42962 TP53 target 3C NM_001205259.2 -1 869 375 NP_001192188.1 substitution intron GRCh37 32687050 32687050 Chr16(GRCh37):g.32687050G>A 362+7 362+7 NM_001205259.2:c.362+7C>T p.? p.? 1 1 7 5' 81.9786 X.32 0.94557 7.57344 81.9786 X.32 0.860996 6.63248 -0.0298141 Cryptic Acceptor Weakly Activated 32687042 0.185671 72.4814 0.245972 0.201908 74.2912 transition C T C>T 0.134 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000260974 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 32687050 G A - TP53TG3F 51817 TP53 target 3 family member F NM_001330066.1 -1 1411 375 NP_001316995.1 substitution intron GRCh37 32687050 32687050 Chr16(GRCh37):g.32687050G>A 362+7 362+7 NM_001330066.1:c.362+7C>T p.? p.? 1 1 7 5' 81.9786 X.32 0.94557 7.57344 81.9786 X.32 0.860996 6.63248 -0.0298141 Cryptic Acceptor Weakly Activated 32687042 0.185671 72.4814 0.245972 0.201908 74.2912 transition C T C>T 0.134 0.125 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.2505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000260974 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr16:32758892 A/G) 16 32758892 A G Not on a known gene +. (chr16:32758968 A/G) 16 32758968 A G Not on a known gene +. (chr16:32758994 G/A) 16 32758994 G A Not on a known gene +. (chr16:32759026 A/G) 16 32759026 A G Not on a known gene +. (chr16:32759050 G/T) 16 32759050 G T Not on a known gene +rs188338999 (chr16:32928769 T/C) 16 32928769 T C Not on a known gene +rs62046810 (chr16:32938713 G/A) 16 32938713 G A Not on a known gene +. (chr16:32939061 A/G) 16 32939061 A G Not on a known gene +rs796361457 (chr16:33021084 T/C) 16 33021084 T C Not on a known gene +. (chr16:33021241 G/C) 16 33021241 G C Not on a known gene +. (chr16:33134000 C/A) 16 33134000 C A Not on a known gene +. (chr16:33134024 T/C) 16 33134024 T C Not on a known gene +. (chr16:33134056 C/T) 16 33134056 C T Not on a known gene +. (chr16:33134082 T/C) 16 33134082 T C Not on a known gene +. (chr16:33134158 T/C) 16 33134158 T C Not on a known gene +. (chr16:33410693 A/G) 16 33410693 A G Not on a known gene +rs4247491 (chr16:33534128 G/C) 16 33534128 G C Not on a known gene +rs4247492 (chr16:33534161 T/C) 16 33534161 T C Not on a known gene +. (chr16:33534194 C/CA) 16 33534194 C CA Not on a known gene +rs146867572 (chr16:33534198 C/A) 16 33534198 C A Not on a known gene +rs75274563 (chr16:33534205 T/C) 16 33534205 T C Not on a known gene +rs111304289 (chr16:33534209 T/A) 16 33534209 T A Not on a known gene +rs74015084 (chr16:33534212 C/T) 16 33534212 C T Not on a known gene +. (chr16:33728555 T/C) 16 33728555 T C Not on a known gene +. (chr16:33728903 C/T) 16 33728903 C T Not on a known gene +rs75018044 (chr16:33953884 T/G) 16 33953884 T G Not on a known gene +rs62026837 (chr16:33953964 G/A) 16 33953964 G A Not on a known gene +. 16 33961109 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961109 33961109 Chr16(GRCh37):g.33961109A>G 1395 1395 NR_038368.1:n.1395T>C 1 rs968299173 no no 0 A 0.000000 0 transition T C T>C 0.039 0.125 215 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1332C:p.N444N . . . 0.2 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N465|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.1369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 33961132 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961132 33961132 Chr16(GRCh37):g.33961132C>T 1372 1372 NR_038368.1:n.1372G>A 1 rs1033064640 no no 0 C 0.000000 0 0.000013 0.000138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000138 2 2 0 0 0 0 0 0 0 153796 14492 24452 8158 11458 22442 59552 8788 4454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -1.489 196 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1309A:p.A437T . . . 0.15068494 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A458T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0.0002 8.122e-06 0 0 0 0 0 0 0 0.0001 3.26e-05 0 0 0 0 0 0 . . . . -1.495 -1.495000 . . . . . 1.0E-196 . . . . . . . . . -1.495 . . . . . . 1 1538 10 1/0 0,244,255 +rs80040038 16 33961138 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961138 33961138 Chr16(GRCh37):g.33961138A>C 1366 1366 NR_038368.1:n.1366T>G 1 rs80040038 no no 0 A 0.000000 0 transversion T G T>G 0.000 -1.732 213 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1303G:p.L435V . . . 0.19480519 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Gtg|L456V|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.4040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.41 0.16 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80040038 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.839 -1.839000 . . . . . 1.0E-213 . . . . . . . . . -1.839 . . . . rs80040038 rs80040038 1 1538 10 1/0 0,246,255 +rs62028806 16 33961159 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961159 33961159 Chr16(GRCh37):g.33961159A>G 1345 1345 NR_038368.1:n.1345T>C 1 rs62028806 yes no Frequency 1 A 0.000000 0 0.000013 0.000140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000140 2 2 0 0 0 0 0 0 0 153172 14242 24438 8148 11428 22442 59358 8684 4432 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.570 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1282C:p.S428P . . . 0.4074074 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 81.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S449P|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3077 . . . . . . . . 6.484e-05 . . . 0.0053 9.398e-05 0 0 0 0 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.35 0.17 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028806 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0002 6.649e-05 0 0 0 0 0 0 . . . . -1.555 -1.555000 . . . . . 1.0E-255 . . . . . . . . . -1.555 . . rs62028806 rs62028806 rs62028806 rs62028806 1 1538 10 1/0 0,255,255 +rs74349926 16 33961169 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961169 33961169 Chr16(GRCh37):g.33961169A>G 1335 1335 NR_038368.1:n.1335T>C 1 rs74349926 yes no Frequency 1 G 0.000000 0 0.000020 0.000149 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000149 3 2 0 0 0 0 1 0 0 151334 13464 24378 8138 11298 22440 58762 8460 4394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -2.135 232 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1272C:p.G424G . . . 0.24657534 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G445|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6040 . . . . . . . . 6.392e-05 . . . 0.0053 9.393e-05 0 0 0 0 0 0 . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.13 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74349926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 0.0001 0 0 0 0 7.124e-05 0 . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . rs74349926 rs74349926 1 1538 10 1/0 0,254,255 +rs72806338 16 33961201 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961201 33961201 Chr16(GRCh37):g.33961201A>C 1303 1303 NR_038368.1:n.1303T>G 1 rs72806338 yes no Frequency/1000G 2 A 0.000000 0 transversion T G T>G 0.008 -1.328 206 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1240G:p.S414A . . . 0.17567568 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 74.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Gca|S435A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.13 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72806338 . . . . . . . . . . . . . . ENST00000539813 0.514 -1.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.304 -1.304000 . . . . . 1.0E-206 . . . . . . . . . -1.304 . . . rs72806338 rs72806338 rs72806338 1 1538 10 1/0 0,246,255 +rs62028809 16 33961254 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961254 33961254 Chr16(GRCh37):g.33961254G>T 1250 1250 NR_038368.1:n.1250C>A 1 rs62028809 no no 0 G 0.000000 0 transversion C A C>A 0.012 -0.682 182 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1187A:p.P396H . . . 0.11811024 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P417H|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.0492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.31 0.2 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs62028809 . . . . . . . . . . . . . . ENST00000539813 0.356 -0.711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.702 -0.702000 . . . . . 1.0E-182 . . . . . . . . . -0.702 . . rs62028809 rs62028809 rs62028809 rs62028809 1 1538 10 1/0 0,217,255 +rs62028810 16 33961265 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961265 33961265 Chr16(GRCh37):g.33961265A>G 1239 1239 NR_038368.1:n.1239T>C 1 rs62028810 yes no Frequency 1 G 0.000000 0 0.000015 0.000000 0.000000 0.000000 0.000101 0.000000 0.000020 0.000000 0.000000 0.000101 2 0 0 0 1 0 1 0 0 130142 6432 23694 8054 9896 22332 50762 5334 3638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.012 -2.700 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1176C:p.G392G . . . 0.37762237 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G413|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8149 . . . . . . . . 3.720e-03 . . . 0.0104 0.0005 0 0 0.5 0.0008 0 0 0.0053 0.0003 0 0 0.5 0.0004 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.31 0.2 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0003 0 0 0.0135 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62028810 rs62028810 rs62028810 rs62028810 1 1538 10 1/0 0,232,255 +. 16 33961270 CTG C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 deletion exon GRCh37 33961271 33961272 Chr16(GRCh37):g.33961271_33961272del 1232 1233 NR_038368.1:n.1232_1233del 1 rs151190439 no no 0 0.000000 0 CA 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.1169_1170del:p.T390fs . . . 0.23703703 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 135 . . FRAME_SHIFT(HIGH||||LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151190439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs151190439 rs151190439 1 1538 10 1.I 0,9,63 +rs371701506 16 33961323 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961323 33961323 Chr16(GRCh37):g.33961323G>C 1181 1181 NR_038368.1:n.1181C>G 1 rs371701506 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.039 0.367 101 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1118G:p.P373R . . . 0.10273973 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 292.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P394R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs371701506 . . . . . . . . . . . . . . ENST00000539813 0.337 0.337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.409 0.409000 . . . . . 1.0E-101 . . . . . . . . . 0.409 . . . . rs371701506 rs371701506 1 1538 10 1/0 0,185,255 +. 16 33961324 G GC - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 duplication exon GRCh37 33961324 33961325 Chr16(GRCh37):g.33961325dup 1179 1179 NR_038368.1:n.1179dup 1 rs75001436 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.1116dupG:p.P373fs . . . 0.45117846 . . . 134 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 297 . . FRAME_SHIFT(HIGH||||LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75001436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75001436 rs75001436 1 1538 10 1.I 0,12,35 +rs62028811 16 33961334 T C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961334 33961334 Chr16(GRCh37):g.33961334T>C 1170 1170 NR_038368.1:n.1170A>G 1 rs62028811 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A1107G:p.L369L . . . 0.50763357 . . @ 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 262.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L390|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.3 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028811 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62028811 rs62028811 rs62028811 rs62028811 1 1538 10 1/0 0,215,224 +. 16 33961346 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961346 33961346 Chr16(GRCh37):g.33961346G>C 1158 1158 NR_038368.1:n.1158C>G 1 transversion C G C>G 0.000 0.125 182 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1095G:p.A365A . . . 0.11666667 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcG|A386|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.1912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,202,255 +. 16 33961349 T G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961349 33961349 Chr16(GRCh37):g.33961349T>G 1155 1155 NR_038368.1:n.1155A>C 1 transversion A C A>C 0.000 -0.279 183 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A1092C:p.A364A . . . 0.11931818 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcA/gcC|A385|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +. 16 33961351 C CGGCCG - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 insertion exon GRCh37 33961351 33961352 Chr16(GRCh37):g.33961351_33961352insGGCCG 1152 1153 NR_038368.1:n.1152_1153insCGGCC 1 CGGCC 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.1089_1090insCGGCC:p.A364fs . . . 0.11731844 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 179 . . FRAME_SHIFT(HIGH||||LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,93 +. 16 33961355 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961355 33961355 Chr16(GRCh37):g.33961355A>G 1149 1149 NR_038368.1:n.1149T>C 1 transition T C T>C 0.000 -0.198 182 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1086C:p.A362A . . . 0.11797753 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A383|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +. 16 33961366 T TGCGC - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 insertion exon GRCh37 33961366 33961367 Chr16(GRCh37):g.33961366_33961367insGCGC 1137 1138 NR_038368.1:n.1137_1138insGCGC 1 GCGC 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.1074_1075insGCGC:p.T359fs . . . 0.109947644 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 191 . . FRAME_SHIFT(HIGH||||LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,96 +. 16 33961375 T C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961375 33961375 Chr16(GRCh37):g.33961375T>C 1129 1129 NR_038368.1:n.1129A>G 1 transition A G A>G 0.000 -0.279 181 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A1066G:p.T356A . . . 0.1160221 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 181.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|T377A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . III.98 . ENST00000539813 0.705 -1.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.230 -0.230000 . . . . . 1.0E-181 . . . . . . . . . -0.230 . . . . . . 1 1538 10 1/0 0,202,255 +rs77172352 16 33961379 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961379 33961379 Chr16(GRCh37):g.33961379G>C 1125 1125 NR_038368.1:n.1125C>G 1 rs77172352 yes no Frequency 1 G 0.000000 0 0.000243 0.000000 0.000084 0.000000 0.002967 0.000000 0.000018 0.000000 0.000000 0.002967 34 0 2 0 31 0 1 0 0 140004 9346 23930 8122 10448 22336 55866 6032 3924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 0 2 0 31 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -2.054 184 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1062G:p.D354E . . . 0.1491228 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 342.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D375E|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3396 . . . . . . . . 1.079e-04 . . . . . . . . . . . 0 9.434e-05 0 0.0074 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.22 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77172352 . . . . . . . . . . . . 2.0158 . ENST00000539813 0.705 -1.41 . . . . . . . . . . . . 0 0.0002 8.472e-05 0 0.0027 0 2.167e-05 0 0 0 0.0003 0 0 0.0065 0 0 0 . . . . -2.026 -2.026000 . . . . . 9.999999999999999E-185 . . . . . . . . . -2.026 . . . . rs77172352 rs77172352 1 1538 10 1/0 0,178,255 +rs76955817 16 33961382 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961382 33961382 Chr16(GRCh37):g.33961382C>T 1122 1122 NR_038368.1:n.1122G>A 1 rs76955817 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16700 4202 324 276 778 0 9898 772 450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 232 Genomes transition G A G>A 0.000 -2.700 194 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1059A:p.P353P . . . 0.14492753 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 345.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P374|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.29 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76955817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs76955817 rs76955817 1 1538 10 1/0 0,176,255 +rs766968812 16 33961393 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961393 33961393 Chr16(GRCh37):g.33961393C>T 1111 1111 NR_038368.1:n.1111G>A 1 rs766968812 yes no Frequency 1 C 0.000000 0 0.000057 0.000000 0.000000 0.000000 0.000000 0.000273 0.000022 0.000000 0.000000 0.000273 7 0 0 0 0 6 1 0 0 122860 5926 23266 7706 9728 21972 45684 5088 3490 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 0 PASS 77 Exomes transition G A G>A 0.004 0.125 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1048A:p.G350S . . . 0.3286517 . . @ 117 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 356.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G371S|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8227 . . . . . . . . 2.487e-04 . . . 0 0.0003 0 0 . 0 0 0.0004 0 0.0003 0 0 . 0 0 0.0004 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs766968812 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 5.698e-05 0 0 0 0 2.189e-05 0 0.0003 . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0E-255 . . . . . . . . . 0.119 . . rs11541261 rs11541261 . . 1 1538 10 1/0 0,199,247 +rs199599611 16 33961395 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961395 33961395 Chr16(GRCh37):g.33961395G>C 1109 1109 NR_038368.1:n.1109C>G 1 rs199599611 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -1.732 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1046G:p.A349G . . . 0.45405406 . . @ 168 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 370.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gGg|A370G|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.35 0.3 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199599611 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.702 -1.702000 . . . . . 1.0E-255 . . . . . . . . . -1.702 . . . . rs199599611 rs199599611 1 1538 10 1/0 0,208,233 +rs200479697 16 33961402 T C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961402 33961402 Chr16(GRCh37):g.33961402T>C 1102 1102 NR_038368.1:n.1102A>G 1 rs200479697 no no 0 T 0.000000 0 transition A G A>G 0.004 0.125 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A1039G:p.S347G . . . 0.4870317 . . @ 169 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 347.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S368G|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.31 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200479697 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.103 0.103000 . . . . . 1.0E-255 . . . . . . . . . 0.103 . . . . rs200479697 rs200479697 1 1538 10 1/0 0,214,233 +rs767040695 16 33961408 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961408 33961408 Chr16(GRCh37):g.33961408C>T 1096 1096 NR_038368.1:n.1096G>A 1 rs767040695 no no 0 C 0.000000 0 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1033A:p.A345T . . . 0.45762712 . . @ 162 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 354.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A366T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs767040695 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0E-255 . . . . . . . . . 0.119 . . . . . . 1 1538 10 1/0 0,211,236 +rs749895601 16 33961428 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961428 33961428 Chr16(GRCh37):g.33961428C>G 1076 1076 NR_038368.1:n.1076G>C 1 rs749895601 no no 0 C 0.000000 0 0.000072 0.000132 0.001412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001412 2 1 1 0 0 0 0 0 0 27652 7604 708 298 1346 0 13824 2998 874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 127 Genomes transversion G C G>C 0.004 0.125 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1013C:p.R338T . . . 0.32994923 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 394.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aCg|R359T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749895601 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.233e-05 0.0014 0 0 0 0 0 . . . . 0.119 0.119000 . . . . . 1.0E-255 . . . . . . . . . 0.119 . . . . . . 1 1538 10 1/0 0,189,250 +rs796823411 16 33961431 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961431 33961431 Chr16(GRCh37):g.33961431A>C 1073 1073 NR_038368.1:n.1073T>G 1 rs796823411 no no 0 A 0.000000 0 transversion T G T>G 0.000 -1.812 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1010G:p.L337R . . . 0.34048256 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 373.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cGc|L358R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.4329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.869 -1.869000 . . . . . 1.0E-255 . . . . . . . . . -1.869 . . . . . . 1 1538 10 1/0 0,193,252 +rs755768985 16 33961432 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961432 33961432 Chr16(GRCh37):g.33961432G>C 1072 1072 NR_038368.1:n.1072C>G 1 rs755768985 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 0.125 254 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C1009G:p.L337V . . . 0.3172589 . . @ 125 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 394.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Gtc|L358V|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755768985 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0000000000000001E-254 . . . . . . . . . 0.119 . . . . . . 1 1538 10 1/0 0,188,253 +rs779516654 16 33961436 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961436 33961436 Chr16(GRCh37):g.33961436C>T 1068 1068 NR_038368.1:n.1068G>A 1 rs779516654 no no 0 C 0.000000 0 transition G A G>A 0.000 -1.489 246 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1005A:p.L335L . . . 0.29107982 . . @ 124 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 426.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L356|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779516654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,254 +rs749721852 16 33961437 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961437 33961437 Chr16(GRCh37):g.33961437A>C 1067 1067 NR_038368.1:n.1067T>G 1 rs749721852 no no 0 A 0.000000 0 transversion T G T>G 0.004 0.125 253 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T1004G:p.L335R . . . 0.31358024 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 405.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L356R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749721852 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.103 0.103000 . . . . . 1.0E-253 . . . . . . . . . 0.103 . . . . . . 1 1538 10 1/0 0,186,251 +rs755265192 16 33961439 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961439 33961439 Chr16(GRCh37):g.33961439C>T 1065 1065 NR_038368.1:n.1065G>A 1 rs755265192 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30658 8560 830 302 1616 0 14922 3454 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 107 Genomes transition G A G>A 0.012 0.125 246 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G1002A:p.S334S . . . 0.2897196 . . @ 124 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 428.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S355|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.3872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755265192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,251 +rs74375516 16 33961444 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961444 33961444 Chr16(GRCh37):g.33961444G>A 1060 1060 NR_038368.1:n.1060C>T 1 rs74375516 yes no Frequency 1 G 0.000000 0 0.000110 0.000000 0.000043 0.000000 0.001217 0.000000 0.000000 0.000000 0.000280 0.001217 14 0 1 0 12 0 0 0 1 127276 6124 23388 7940 9864 22402 48754 5230 3574 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 0 1 0 12 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 60 Exomes transition C T C>T 0.012 0.044 199 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C997T:p.R333W . . . 0.15704387 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 433.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R354W|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8002 . . . . . . . . 4.006e-04 . . . 0 0.0002 0 0 0 0 0 0.0003 0 0.0002 0 0 0 0 0 0.0003 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.39 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74375516 0.033 0.029 . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 0.0001 4.276e-05 0 0.0012 0 0 0.0003 0 . . . . . . . . . . . . 0.064 0.064000 . . . . . 1.0E-199 . . . . . . . . . 0.064 . 0.033 . . rs74375516 rs74375516 1 1538 10 1/0 0,168,252 +rs77612534 16 33961448 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961448 33961448 Chr16(GRCh37):g.33961448C>T 1056 1056 NR_038368.1:n.1056G>A 1 rs77612534 no no 0 C 0.000000 0 transition G A G>A 0.008 0.125 207 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G993A:p.R331R . . . 0.17763157 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 456.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R352|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.1127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77612534 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . 0.022 . . rs77612534 rs77612534 1 1538 10 1/0 0,167,244 +rs77704900 16 33961464 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961464 33961464 Chr16(GRCh37):g.33961464C>T 1040 1040 NR_038368.1:n.1040G>A 1 rs77704900 yes no Frequency 1 C 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 1 0 0 0 0 0 1 0 0 127778 6126 23560 7962 9840 22424 49080 5196 3590 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 54 Exomes transition G A G>A 0.000 0.125 207 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G977A:p.R326H . . . 0.17763157 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 456.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R347H|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7948 . . . . . . . . 5.012e-05 . . . 0 8.475e-05 0 0 0 0.0003 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.34 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77704900 0.011 0.014 . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 7.826e-06 0 0 0 0 2.037e-05 0 0 . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0E-207 . . . . . . . . . 0.119 . 0.011 . . rs77704900 rs77704900 1 1538 10 1/0 0,167,249 +rs137972467 16 33961471 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961471 33961471 Chr16(GRCh37):g.33961471C>G 1033 1033 NR_038368.1:n.1033G>C 1 rs137972467 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.004 0.448 148 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G970C:p.V324L . . . 0.19318181 . . @ 85 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 440.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V345L|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.34 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.029 . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.445 0.445000 . . . . . 1.0E-148 . . . . . . . . . 0.445 . 0.022 . . . . 1 1538 10 1/0 0,175,245 +rs75351386 16 33961475 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961475 33961475 Chr16(GRCh37):g.33961475G>A 1029 1029 NR_038368.1:n.1029C>T 1 rs75351386 yes no Frequency/1000G 2 G 0.000000 0 0.000022 0.000000 0.000092 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000092 3 0 2 0 0 0 1 0 0 135300 12434 21656 6740 10336 18462 54634 7134 3904 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.020 0.448 203 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C966T:p.N322N . . . 0.17873304 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 442.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N343|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . 0.0632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0014 . . . 0.33 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75351386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.985e-06 4.75e-05 0 0 0 0 0 0 0 8.333e-05 0.0017 0 0 0 8.331e-05 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs75351386 rs75351386 1 1538 10 1/0 0,169,251 +rs77649457 16 33961570 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961570 33961570 Chr16(GRCh37):g.33961570G>C 934 934 NR_038368.1:n.934C>G 1 rs77649457 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -1.086 216 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C871G:p.R291G . . . 0.22340426 . . @ 105 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 470.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R312G|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.1867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.34 0.1 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77649457 . . . . . . . . . . . . . . ENST00000539813 0.113 -0.226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.114 -1.114000 . . . . . 1.0E-216 . . . . . . . . . -1.114 . . . . rs77649457 rs77649457 1 1538 10 1/0 0,171,245 +rs77295773 16 33961572 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961572 33961572 Chr16(GRCh37):g.33961572G>A 932 932 NR_038368.1:n.932C>T 1 rs77295773 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.000 0.205 217 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C869T:p.P290L . . . 0.20305677 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 458.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P311L|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.11 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77295773 . . . . . . . . . . . . . . ENST00000539813 0.113 0.113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.183 0.183000 . . . . . 1.0E-217 . . . . . . . . . 0.183 . . . . rs77295773 rs77295773 1 1538 10 1/0 0,170,250 +rs111958693 16 33961581 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961581 33961581 Chr16(GRCh37):g.33961581G>A 923 923 NR_038368.1:n.923C>T 1 rs111958693 yes no Frequency 1 G 0.000000 0 0.000071 0.000163 0.000000 0.000140 0.000000 0.000000 0.000068 0.000412 0.000000 0.000412 10 2 0 1 0 0 4 3 0 141132 12246 21940 7124 10312 19796 58408 7280 4026 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 2 0 1 0 0 3 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.004 -1.167 114 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C860T:p.T287M . . . 0.29054055 . . @ 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 444.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T308M|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.1627 . . . . . . . . 3.118e-03 . . . 0 0.0072 0 0 0 0.0085 0 0.0076 0 0.0079 0 0 0 0.0110 0 0.0076 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.34 0.1 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111958693 . . . . . . . . . . . . . . ENST00000539813 0.113 -0.226 . . . . . . . . . . . . 0 5.92e-05 0 0.0001 0 0.0006 6.405e-05 0 0 0.0003 0.0001 0 0 0 0 8.645e-05 0 . . . . -1.200 -1.200000 . . . . . 1.0E-114 . . . . . . . . . -1.200 . . . . rs111958693 rs111958693 1 1538 10 1/0 0,198,233 +rs77800732 16 33961606 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961606 33961606 Chr16(GRCh37):g.33961606C>T 898 898 NR_038368.1:n.898G>A 1 rs77800732 no no 0 T 0.000000 0 transition G A G>A 0.000 -2.781 229 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G835A:p.E279K . . . 0.23809524 . . @ 110 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 462.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E300K|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.6628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.31 0.13 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77800732 . . . . . . . . . . . . . . ENST00000539813 0.113 -0.226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.816 -2.816000 . . . . . 1.0E-229 . . . . . . . . . -2.816 . . . . rs77800732 rs77800732 1 1538 10 1/0 0,173,244 +rs375929052 16 33961634 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961634 33961634 Chr16(GRCh37):g.33961634G>A 870 870 NR_038368.1:n.870C>T 1 rs375929052 yes no Frequency 1 G 0.000000 0 0.000031 0.000342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000342 5 5 0 0 0 0 0 0 0 162446 14606 24518 8290 11500 22654 67390 8872 4616 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.167 228 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C807T:p.H269H . . . 0.23696682 . . @ 100 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 422.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H290|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4395 . . . . . . . . 2.133e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375929052 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.011 . . rs375929052 rs375929052 1 1538 10 1/0 0,177,251 +rs76218310 16 33961684 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961684 33961684 Chr16(GRCh37):g.33961684G>T 820 820 NR_038368.1:n.820C>A 1 rs76218310 no no 0 G 0.000000 0 transversion C A C>A 0.000 0.125 237 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C757A:p.P253T . . . 0.26347306 . . @ 88 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 334.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P274T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.16 182 . LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76218310 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.119 0.119000 . . . . . 1.0E-237 . . . . . . . . . 0.119 . . . . rs76218310 rs76218310 1 1538 10 1/0 0,190,255 +rs79605728 16 33961691 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961691 33961691 Chr16(GRCh37):g.33961691G>A 813 813 NR_038368.1:n.813C>T 1 rs79605728 yes no Frequency 1 G 0.000000 0 0.002828 0.007594 0.003551 0.000364 0.002078 0.002307 0.002416 0.002532 0.001050 0.007594 505 110 87 3 27 54 194 25 5 178564 14486 24498 8232 12992 23410 80310 9872 4764 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 505 110 87 3 27 54 194 25 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.008 0.125 244 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C750T:p.P250P . . . 0.28431374 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 306.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P271|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.1969 . . . . . . . . 8.455e-03 . . . 0.0117 0.0113 0.0301 0.0091 0.0083 0.0098 0.0089 0.0085 0.0152 0.0117 0.0307 0.0095 0.0082 0.0111 0.0044 0.0084 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.13 182 . LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79605728 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0054 0.0026 0.0034 0.0004 0.0017 0.0033 0.0024 0.0010 0.0023 0.0101 0.0043 0.0074 0 0.0049 0.0009 0.0023 0.0011 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . 0.011 . . rs79605728 rs79605728 1 1538 10 1/0 0,196,255 +rs76477119 16 33961898 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961898 33961898 Chr16(GRCh37):g.33961898C>T 606 606 NR_038368.1:n.606G>A 1 rs76477119 no no 0 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 0.000089 2 0 0 0 0 2 0 0 0 122726 5938 23518 7826 9844 22378 44490 5252 3480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Exomes transition G A G>A 0.000 0.609 231 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G543A:p.G181G . . . 0.24752475 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G202|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.0843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.18 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76477119 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.63e-05 0 0 0 0 0 0 8.937e-05 . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . 0.043 . . rs76477119 rs76477119 1 1538 10 1/0 0,239,255 +. 16 33961932 T TGGC - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 duplication exon GRCh37 33961932 33961933 Chr16(GRCh37):g.33961933_33961935dup 569 571 NR_038368.1:n.569_571dup 1 GCC 255 Pass . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.508_509insGCC:p.H170delinsRH . . . 0.14184397 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 141 . . CODON_INSERTION(MODERATE||-/GCC|-191A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion . . . . ncRNA_exonic exonic ncRNA_exonic . . . . . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,85 +rs80061605 16 33961952 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961952 33961952 Chr16(GRCh37):g.33961952G>T 552 552 NR_038368.1:n.552C>A 1 rs80061605 no no 0 0.000000 0 transversion C A C>A 0.000 -0.440 217 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C489A:p.T163T . . . 0.20408164 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acA|T184|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.15 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80061605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs80061605 rs80061605 1 1538 10 1/0 0,219,255 +rs77505384 16 33961982 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33961982 33961982 Chr16(GRCh37):g.33961982G>T 522 522 NR_038368.1:n.522C>A 1 rs77505384 yes no Frequency/1000G 2 0.000000 0 transversion C A C>A 0.000 -1.247 245 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C459A:p.R153R . . . 0.2893082 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R174|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0026 . . . 0.23 0.18 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77505384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . rs77505384 rs77505384 1 1538 10 1/0 0,223,255 +. 16 33962014 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962014 33962014 Chr16(GRCh37):g.33962014A>G 490 490 NR_038368.1:n.490T>C 1 0.000361 0.001923 0.000043 0.000000 0.000302 0.000046 0.000296 0.001927 0.000546 0.001927 47 14 1 0 3 1 15 11 2 130038 7280 23226 7796 9930 21788 50650 5708 3660 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 14 1 0 3 1 15 11 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -2.216 179 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T427C:p.C143R . . . 0.11042945 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 163.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C164R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.4390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . 0 8.463e-06 0 0 0 0 0 0 4.59e-05 0.0072 0.0039 0.0039 0 0.0099 0.0159 0.0019 0.0065 . . . . -2.269 -2.269000 . . . . . 1.0E-179 . . . . . . . . . -2.269 . . . . . . 1 1538 10 1/0 0,206,255 +rs118113598 16 33962058 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962058 33962058 Chr16(GRCh37):g.33962058G>A 446 446 NR_038368.1:n.446C>T 1 rs118113598 yes no Frequency 1 0.000000 0 0.000399 0.002270 0.000507 0.000000 0.000471 0.000105 0.000343 0.000000 0.000649 0.002270 44 11 10 0 4 2 15 0 2 110296 4846 19732 6538 8494 19104 43794 4704 3084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 11 10 0 4 2 15 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.086 205 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C383T:p.A128V . . . 0.17105263 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 152.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A149V|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2854 . . . . . . . . 5.478e-04 . . . 0 0.0001 0 0 . 0.0006 0 0 0 0.0001 0 0 . 0.0007 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.15 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs118113598 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . 0 0.0002 0.0003 0 0.0004 0 0.0001 0.0003 0.0001 0.0092 0.0030 0.0370 0 0.0056 0 0.0015 0.0051 . . . . -1.077 -1.077000 . . . . . 1.0E-205 . . . . . . . . . -1.077 . . . . rs118113598 rs118113598 1 1538 10 1/0 0,215,255 +rs72797471 16 33962078 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962078 33962078 Chr16(GRCh37):g.33962078C>T 426 426 NR_038368.1:n.426G>A 1 rs72797471 yes no Frequency/1000G 2 0.000000 0 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000075 0.000000 0.000000 0.000075 1 0 0 0 0 0 1 0 0 26170 6598 736 290 1218 0 13320 3160 848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 79 Genomes transition G A G>A 0.024 0.448 240 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G363A:p.P121P . . . 0.27419356 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P142|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72797471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.821e-05 0 0 0 0 7.508e-05 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . rs72797471 rs72797471 rs72797471 1 1538 10 1/0 0,233,255 +. 16 33962098 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962098 33962098 Chr16(GRCh37):g.33962098G>A 406 406 NR_038368.1:n.406C>T 1 rs1015016952 no no 0 0.000000 0 0.001346 0.002360 0.000250 0.000224 0.001503 0.000205 0.001740 0.004735 0.001875 0.004735 127 18 4 1 11 3 65 20 5 94332 7628 16032 4462 7320 14644 37356 4224 2666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 127 18 4 1 11 3 65 20 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.004 0.448 191 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C343T:p.R115C . . . 0.1368421 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 95.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R136C|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . 0 0.0002 0.0002 0.0002 0.0003 0 0.0001 0 0.0002 0.0033 0.0072 0.0034 0 0.0193 0.0197 0.0076 0.0126 . . . . 0.445 0.445000 . . . . . 1.0E-191 . . . . . . . . . 0.445 . . . . . . 1 1538 10 1/0 0,232,255 +rs78458740 16 33962100 A C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962100 33962100 Chr16(GRCh37):g.33962100A>C 404 404 NR_038368.1:n.404T>G 1 rs78458740 yes no Frequency/1000G 2 0.000000 0 0.000209 0.000374 0.009091 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.009091 2 1 1 0 0 0 0 0 0 9586 2674 110 226 108 0 6164 136 168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 183 Genomes transversion T G T>G 0.000 -2.135 147 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T341G:p.L114R . . . 0.40449437 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cGc|L135R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.22 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78458740 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0002 0.0091 0 0 0 0 0 . . . . -2.112 -2.112000 . . . . . 1.0E-147 . . . . . . . . . -2.112 . . . . rs78458740 rs78458740 1 1538 10 1/0 0,255,255 +rs368849695 16 33962111 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962111 33962111 Chr16(GRCh37):g.33962111G>A 393 393 NR_038368.1:n.393C>T 1 rs368849695 no no 0 0.000000 0 0.000044 0.000093 0.000057 0.000000 0.000000 0.000000 0.000044 0.000148 0.000000 0.000148 5 1 1 0 0 0 2 1 0 112424 10718 17452 4686 8822 15246 45508 6738 3254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 1 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.763 237 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C330T:p.L110L . . . 0.2658228 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L131|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368849695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.879e-05 6.011e-05 0 0 0.0003 6.53e-05 0 0 0.0001 3.285e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs368849695 rs368849695 1 1538 10 1/0 0,251,255 +rs371518521 16 33962121 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962121 33962121 Chr16(GRCh37):g.33962121G>C 383 383 NR_038368.1:n.383C>G 1 rs371518521 no no 0 0.000000 0 0.000095 0.000000 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000135 1 0 0 0 0 0 1 0 0 10580 1766 200 244 296 0 7414 430 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 152 Genomes transversion C G C>G 0.000 -0.440 231 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C320G:p.A107G . . . 0.24561404 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 114.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A128G|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371518521 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . . . . . . . . . . 0 9.452e-05 0 0 0 0 0.0001 0 . . . . -0.461 -0.461000 . . . . . 1.0E-231 . . . . . . . . . -0.461 . . . . rs371518521 rs371518521 1 1538 10 1/0 0,234,255 +rs373343127 16 33962129 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962129 33962129 Chr16(GRCh37):g.33962129C>G 375 375 NR_038368.1:n.375G>C 1 rs373343127 no no 0 0.000000 0 0.001389 0.005241 0.000000 0.000000 0.000000 0.000000 0.000772 0.004149 0.000000 0.005241 12 5 0 0 0 0 5 2 0 8638 954 146 236 128 0 6476 482 216 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 0 0 0 0 5 2 0 0 0 0 0 0 0 0 0 0 RF 181 Genomes transversion G C G>C 0.000 -0.440 200 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G312C:p.M104I . . . 0.16091955 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M125I|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.9057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373343127 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . . . . . . . . . . 0.0052 0.0014 0 0 0 0.0041 0.0008 0 . . . . -0.461 -0.461000 . . . . . 1.0E-200 . . . . . . . . . -0.461 . . . . rs373343127 rs373343127 1 1538 10 1/0 0,237,255 +rs79151072 16 33962130 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962130 33962130 Chr16(GRCh37):g.33962130A>G 374 374 NR_038368.1:n.374T>C 1 rs79151072 yes no Frequency/1000G 2 0.000000 0 0.001306 0.007886 0.000000 0.000000 0.000000 0.000000 0.000483 0.008929 0.000000 0.008929 10 5 0 0 0 0 3 2 0 7656 634 84 238 102 0 6214 224 160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 5 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 RF 204 Genomes transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T311C:p.M104T . . . 0.60714287 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M125T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79151072 0.228 0.225 . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0013 0 0 0 0.0089 0.0005 0 . . . . -1.118 -1.118000 . . . . . 1.0E-255 . . . . . . . . . -1.118 . 0.23 . . rs79151072 rs79151072 1 1538 10 1/0 0,255,255 +rs116070160 16 33962150 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962150 33962150 Chr16(GRCh37):g.33962150G>T 354 354 NR_038368.1:n.354C>A 1 rs116070160 yes no Frequency/1000G 2 0.000000 0 0.000564 0.010827 0.000093 0.000141 0.000602 0.000049 0.000288 0.001808 0.000000 0.010827 64 33 2 1 5 1 13 9 0 113444 3048 21436 7106 8308 20244 45106 4978 3218 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 33 2 1 5 1 13 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.012 0.448 242 PASS 0.11 0.12 0.14 0.11 0.12 . . . . . . . LINC00273:uc021thl.1:exon1:c.C291A:p.H97Q . . . 0.28037384 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 107.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H118Q|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.23 0.18 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116070160 . 0.007 . . . . . 0.11675824175824176 0.10975609756097561 0.1408839779005525 0.10664335664335664 0.11741424802110818 . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . 0 9.37e-06 0 0 0 0 0 0 4.94e-05 0.1435 0.0094 0.0303 0.0042 0.2778 0.18 0.0022 0 . . . . 0.445 0.445000 . . . . . 1.0E-242 . . . . . . . . . 0.445 . 0.14 . . rs116070160 rs116070160 1 1538 10 1/0 0,238,255 +rs555596057 16 33962209 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962209 33962209 Chr16(GRCh37):g.33962209C>T 295 295 NR_038368.1:n.295G>A 1 rs555596057 yes no Frequency 1 0.000000 0 0.000569 0.011726 0.000043 0.000129 0.000428 0.000046 0.000083 0.000972 0.000289 0.011726 70 53 1 1 4 1 4 5 1 123084 4520 23108 7760 9352 21720 48024 5144 3456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 53 1 1 4 1 4 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.086 233 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G232A:p.G78R . . . 0.251497 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 167.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G99R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2490 . . . . . . . . 7.794e-05 . . . 0 0.0001 0 0 . 0 0 0.0001 0 0.0001 0 0 . 0 0 0.0001 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs555596057 . . . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . 0 1.722e-05 0 0 0 0 2.39e-05 0 4.604e-05 0.2172 0.0098 0.0161 0.0039 0.2857 0.4167 0.0005 0.0066 . . . . -1.079 -1.079000 . . . . . 1.0000000000000001E-233 . . . . . . . . . -1.079 . . . . . . 1 1538 10 1/0 0,217,255 +rs79163818 16 33962219 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962219 33962219 Chr16(GRCh37):g.33962219A>G 285 285 NR_038368.1:n.285T>C 1 rs79163818 no no 0 0.000000 0 transition T C T>C 0.000 -1.086 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T222C:p.R74R . . . 0.39411765 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 170.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgT/cgC|R95|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79163818 0.239 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.24 . . rs79163818 rs79163818 1 1538 10 1/0 0,228,255 +rs79996437 16 33962223 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962223 33962223 Chr16(GRCh37):g.33962223C>G 281 281 NR_038368.1:n.281G>C 1 rs79996437 yes no Frequency/1000G 2 0.000000 0 0.009720 0.218487 0.014706 0.003906 0.285714 0.000000 0.000640 0.416667 0.006494 0.416667 68 52 1 1 4 0 4 5 1 6996 238 68 256 14 0 6254 12 154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 52 1 1 4 0 4 5 1 0 0 0 0 0 0 0 0 0 RF 423 Genomes transversion G C G>C 0.000 -1.328 255 PASS 0.11 0.12 0.1 0.11 0.13 . . . . . . . LINC00273:uc021thl.1:exon1:c.G218C:p.G73A . . . 0.7663044 . . @ 141 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 184.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G94A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.2 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79996437 . . . . . . . 0.1163003663003663 0.11178861788617886 0.10497237569060773 0.11363636363636363 0.1266490765171504 . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . . . . . . . . . . 0.2185 0.0097 0.0147 0.0039 0.2857 0.4167 0.0006 0.0065 . . . . -1.357 -1.357000 . . . . . 1.0E-255 . . . . . . . . . -1.357 . 0.13 . . rs79996437 rs79996437 1 1538 10 1/0 0,234,229 +rs77325341 16 33962224 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962224 33962224 Chr16(GRCh37):g.33962224C>T 280 280 NR_038368.1:n.280G>A 1 rs77325341 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000046 0.000000 0.000000 0.000000 0.000046 1 0 0 0 0 1 0 0 0 147768 13082 23974 7848 10994 21872 57022 8658 4318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 0.448 246 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G217A:p.G73R . . . 0.29142857 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 175.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G94R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7709 . . . . . . . . 1.497e-04 . . . 0 0.0002 0 0 . 0 0 0.0003 0 0.0002 0 0 . 0 0 0.0003 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77325341 . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . 0 8.556e-06 0 0 0 0 0 0 4.572e-05 0 0 0 0 0 0 0 0 . . . . 0.445 0.445000 . . . . . 1.0E-246 . . . . . . . . . 0.445 . . . . rs77325341 rs77325341 1 1538 10 1/0 0,219,255 +rs115692071 16 33962236 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962236 33962236 Chr16(GRCh37):g.33962236G>T 268 268 NR_038368.1:n.268C>A 1 rs115692071 yes no Frequency/1000G 2 0.000000 0 0.001141 0.034483 0.000000 0.000000 0.000000 0.000000 0.000158 0.055556 0.000000 0.055556 8 6 0 0 0 0 1 1 0 7014 174 66 260 16 0 6326 18 154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 6 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 450 Genomes transversion C A C>A 0.004 -2.135 186 PASS 0.05 0.03 0.01 0.02 0.04 . . . . . . . LINC00273:uc021thl.1:exon1:c.C205A:p.R69R . . . 0.12676056 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 213.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cgg/Agg|R90|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.16 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs115692071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0345 0.0011 0 0 0 0.0556 0.0002 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . 0.05 . . rs115692071 rs115692071 1 1538 10 1/0 0,196,255 +rs77360233 16 33962244 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962244 33962244 Chr16(GRCh37):g.33962244G>A 260 260 NR_038368.1:n.260C>T 1 rs77360233 no no 0 0.000000 0 0.006749 0.205607 0.000000 0.000000 0.000000 0.000000 0.000160 0.333333 0.000000 0.333333 47 44 0 0 0 0 1 2 0 6964 214 66 256 6 0 6264 6 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 44 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 PASS 471 Genomes transition C T C>T 0.008 0.448 223 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C197T:p.A66V . . . 0.22058824 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A87V|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77360233 . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . 0.2056 0.0067 0 0 0 0.3333 0.0002 0 . . . . 0.445 0.445000 . . . . . 1.0E-223 . . . . . . . . . 0.445 . . . . rs77360233 rs77360233 1 1538 10 1/0 0,207,255 +rs74848779 16 33962246 A G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962246 33962246 Chr16(GRCh37):g.33962246A>G 258 258 NR_038368.1:n.258T>C 1 rs74848779 no no 0 0.000000 0 0.007056 0.205607 0.000000 0.000000 0.000000 0.000000 0.000321 0.375000 0.000000 0.375000 49 44 0 0 0 0 2 3 0 6944 214 66 258 6 0 6240 8 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 44 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 478 Genomes transition T C T>C 0.004 -1.732 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.T195C:p.A65A . . . 0.7586207 . . @ 154 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 203.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A86|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74848779 0.337 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2056 0.0071 0 0 0 0.375 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.34 . . rs74848779 rs74848779 1 1538 10 1/0 0,230,225 +rs77557381 16 33962252 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962252 33962252 Chr16(GRCh37):g.33962252C>T 252 252 NR_038368.1:n.252G>A 1 rs77557381 yes no Frequency 1 0.000000 0 transition G A G>A 0.004 0.448 227 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G189A:p.T63T . . . 0.23414634 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 205.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T84|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.3363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77557381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs77557381 rs77557381 1 1538 10 1/0 0,207,255 +rs77668435 16 33962253 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962253 33962253 Chr16(GRCh37):g.33962253G>A 251 251 NR_038368.1:n.251C>T 1 rs77668435 yes no Frequency/1000G 2 0.000000 0 0.000017 0.000000 0.000000 0.000000 0.000000 0.000045 0.000023 0.000000 0.000000 0.000045 2 0 0 0 0 1 1 0 0 119176 4996 23344 7688 9566 22124 42874 5192 3392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 46 Exomes transition C T C>T 0.004 -1.086 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C188T:p.T63M . . . 0.35784313 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 204.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T84M|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.27 0.18 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77668435 0.380 0.406 . . . . . . . . . . . . ENST00000539813 0.328 -0.657 . . . . . . . . . . . . 0 1.678e-05 0 0 0 0 2.332e-05 0 4.52e-05 . . . . . . . . . . . . -1.094 -1.094000 . . . . . 1.0E-255 . . . . . . . . . -1.094 . 0.38 . . rs77668435 rs77668435 1 1538 10 1/0 0,218,255 +rs796987541 16 33962254 T C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962254 33962254 Chr16(GRCh37):g.33962254T>C 250 250 NR_038368.1:n.250A>G 1 rs796987541 no no 0 0.000000 0 0.001312 0.041667 0.000000 0.000000 0.000000 0.000000 0.000161 0.333333 0.000000 0.333333 9 6 0 0 0 0 1 2 0 6860 144 66 256 6 0 6230 6 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 6 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 499 Genomes transition A G A>G 0.004 0.367 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A187G:p.T63A . . . 0.4331551 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 187.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|T84A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . 0.0417 0.0013 0 0 0 0.3333 0.0002 0 . . . . 0.374 0.374000 . . . . . 1.0E-255 . . . . . . . . . 0.374 . . . . . . 1 1538 10 1/0 0,228,255 +rs74828231 16 33962255 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962255 33962255 Chr16(GRCh37):g.33962255G>T 249 249 NR_038368.1:n.249C>A 1 rs74828231 no no 0 0.000000 0 0.000433 0.004587 0.000000 0.000000 0.000000 0.000000 0.000161 0.125000 0.000000 0.125000 3 1 0 0 0 0 1 1 0 6928 218 64 254 6 0 6226 8 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 494 Genomes transversion C A C>A 0.004 0.448 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C186A:p.C62X . . . 0.37931034 . . @ 77 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 203.0 . . STOP_GAINED(HIGH|NONSENSE|tgC/tgA|C83*|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.21 0.19 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74828231 . . . . . . . . . . . . . . ENST00000539813 0.328 0.328 . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0004 0 0 0 0.125 0.0002 0 . . . . 0.445 0.445000 . . . . . 1.0E-255 . . . . . . . . . 0.445 . . . . rs74828231 rs74828231 1 1538 10 1/0 0,221,255 +rs79594372 16 33962277 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962277 33962277 Chr16(GRCh37):g.33962277G>C 227 227 NR_038368.1:n.227C>G 1 rs79594372 yes no Frequency/1000G 2 0.000000 0 0.000405 0.008449 0.000043 0.000000 0.000105 0.000000 0.000041 0.000578 0.000000 0.008449 51 44 1 0 1 0 2 3 0 125838 5208 23392 7954 9556 22054 48966 5186 3522 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 44 1 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.117 255 PASS 0.29 0.33 0.34 0.38 0.33 . . . . . . . LINC00273:uc021thl.1:exon1:c.C164G:p.T55R . . . 0.37438422 . . @ 76 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 203.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T76R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.2402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.15 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79594372 . . . . . . . 0.3347069597069597 0.2865853658536585 0.3397790055248619 0.3776223776223776 0.3311345646437995 IV.49 . ENST00000539813 0.694 -0.429 . . . . . . . . . . . . 0 8.404e-06 4.287e-05 0 0 0 0 0 0 0.2037 0.0073 0 0 0.125 0.375 0.0003 0 . . . . -0.100 -0.100000 . . . . . 1.0E-255 . . . . . . . . . -0.100 . 0.38 . . rs79594372 rs79594372 1 1538 10 1/0 0,221,255 +rs78406896 16 33962280 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962280 33962280 Chr16(GRCh37):g.33962280C>T 224 224 NR_038368.1:n.224G>A 1 rs78406896 yes no Frequency 1 0.000000 0 0.000020 0.000219 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000219 3 3 0 0 0 0 0 0 0 149732 13678 24154 7984 11152 22078 57674 8666 4346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.763 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G161A:p.R54Q . . . 0.33846155 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 195.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R75Q|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.3209 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.13 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78406896 . . . . . . . . . . . . 4.0464 . ENST00000539813 0.694 -1.39 . . . . . . . . . . . . 0.0002 8.413e-06 0 0 0 0 0 0 0 0.0002 6.48e-05 0 0 0 0 0 0 . . . . -0.711 -0.711000 . . . . . 1.0E-255 . . . . . . . . . -0.711 . . . . rs78406896 rs78406896 1 1538 10 1/0 0,219,255 +rs78159351 16 33962281 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962281 33962281 Chr16(GRCh37):g.33962281G>A 223 223 NR_038368.1:n.223C>T 1 rs78159351 no no 0 0.000000 0 transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C160T:p.R54X . . . 0.35643566 . . @ 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 202.0 . . STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R75*|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.29 0.19 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78159351 . . . . . . . . . . . . III.35 . ENST00000539813 0.694 -0.681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.152 -0.152000 . . . . . 1.0E-255 . . . . . . . . . -0.152 . . . . rs78159351 rs78159351 1 1538 10 1/0 0,219,255 +rs78404565 16 33962291 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962291 33962291 Chr16(GRCh37):g.33962291G>A 213 213 NR_038368.1:n.213C>T 1 rs78404565 no no 0 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000053 0.000000 0.000000 0.000053 3 0 0 0 0 0 3 0 0 147592 12930 24024 7958 10934 22030 56826 8590 4300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -1.570 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C150T:p.R50R . . . 0.39712918 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R71|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.29 0.17 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78404565 0.424 0.435 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.688e-05 0 0 0 0 4.69e-05 0 0 0 3.434e-05 0 0 0 0 7.05e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 . . rs78404565 rs78404565 1 1538 10 1/0 0,221,255 +rs72797474 16 33962298 T G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962298 33962298 Chr16(GRCh37):g.33962298T>G 206 206 NR_038368.1:n.206A>C 1 rs72797474 yes no Frequency/1000G 2 0.000000 0 0.000281 0.005993 0.000000 0.000000 0.000000 0.000000 0.000041 0.000580 0.000000 0.005993 35 30 0 0 0 0 2 3 0 124562 5006 23208 7872 9444 21960 48404 5174 3494 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 30 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A C A>C 0.000 -2.458 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.A143C:p.N48T . . . 0.8118812 . . @ 164 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 202.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N69T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.4273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.22 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs72797474 0.446 0.457 . . . . . . . . . . II.46 . ENST00000539813 0.971 -1.94 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.1630 0.0053 0 0 0 0.375 0.0003 0 . . . . -2.670 -2.670000 . . . . . 1.0E-255 . . . . . . . . . -2.670 . 0.45 . rs72797474 rs72797474 rs72797474 1 1538 10 1/0 0,233,229 +rs75485770 16 33962320 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962320 33962320 Chr16(GRCh37):g.33962320G>T 184 184 NR_038368.1:n.184C>A 1 rs75485770 yes no Frequency/1000G 2 0.000000 0 0.000132 0.002209 0.000000 0.000000 0.000221 0.000000 0.000043 0.000394 0.000000 0.002209 16 10 0 0 2 0 2 2 0 120920 4526 22794 7606 9064 21538 46926 5072 3394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 10 0 0 2 0 2 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.004 0.851 253 PASS 0.21 0.27 0.29 0.33 0.25 . . . . . . . LINC00273:uc021thl.1:exon1:c.C121A:p.P41T . . . 0.31491712 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 181.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccg/Acg|P62T|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.23 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75485770 . . . . . . . 0.2673992673992674 0.20934959349593496 0.292817679558011 0.32867132867132864 0.24670184696569922 V.88 . ENST00000539813 0.971 0.971 . . . . . . . . . . . . 0 8.735e-06 0 0 0.0001 0 0 0 0 0.0694 0.0023 0 0 0.125 0.3333 0.0003 0 . . . . 0.896 0.896000 . . . . . 1.0E-253 . . . . . . . . . 0.896 . 0.33 . . rs75485770 rs75485770 1 1538 10 1/0 0,222,255 +rs76410790 16 33962327 T A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962327 33962327 Chr16(GRCh37):g.33962327T>A 177 177 NR_038368.1:n.177A>T 1 rs76410790 yes no Frequency/1000G 2 0.000000 0 0.002326 0.068493 0.000000 0.000000 0.125000 0.000000 0.000320 0.375000 0.000000 0.375000 16 10 0 0 1 0 2 3 0 6880 146 66 258 8 0 6242 8 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 10 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 531 Genomes transversion A T A>T 0.000 -0.198 255 PASS 0.2 0.25 0.27 0.31 0.22 . . . . . . . LINC00273:uc021thl.1:exon1:c.A114T:p.E38D . . . 0.3625 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 160.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E59D|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.19 0.2 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76410790 . . . . . . . 0.24862637362637363 0.2032520325203252 0.27071823204419887 0.30594405594405594 0.22427440633245382 III.69 . ENST00000539813 0.787 -0.924 . . . . . . . . . . . . . . . . . . . . . 0.0685 0.0023 0 0 0.125 0.375 0.0003 0 . . . . -0.232 -0.232000 . . . . . 1.0E-255 . . . . . . . . . -0.232 . 0.31 . . rs76410790 rs76410790 1 1538 10 1/0 0,232,255 +rs72797475 16 33962329 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962329 33962329 Chr16(GRCh37):g.33962329C>G 175 175 NR_038368.1:n.175G>C 1 rs72797475 yes no Frequency/1000G 2 0.000000 0 0.002589 0.072464 0.000000 0.000000 0.125000 0.000000 0.000354 0.300000 0.000000 0.300000 16 10 0 0 1 0 2 3 0 6180 138 50 214 8 0 5648 10 112 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 10 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 598 Genomes transversion G C G>C 0.000 -1.974 255 PASS 0.21 0.25 0.27 0.32 0.23 . . . . . . . LINC00273:uc021thl.1:exon1:c.G112C:p.E38Q . . . 0.8032787 . . @ 147 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 183.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E59Q|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.5114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.21 0.19 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs72797475 0.152 0.145 . . . . . 0.25457875457875456 0.2073170731707317 0.26795580110497236 0.3181818181818182 0.23087071240105542 . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . 0.0725 0.0026 0 0 0.125 0.3 0.0004 0 . . . . -2.044 -2.044000 . . . . . 1.0E-255 . . . . . . . . . -2.044 . 0.32 . rs72797475 rs72797475 rs72797475 1 1538 10 1/0 0,245,241 +rs79019195 16 33962334 G C - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962334 33962334 Chr16(GRCh37):g.33962334G>C 170 170 NR_038368.1:n.170C>G 1 rs79019195 yes no Frequency 1 0.000000 0 0.002322 0.068493 0.000000 0.000000 0.125000 0.000000 0.000320 0.300000 0.000000 0.300000 16 10 0 0 1 0 2 3 0 6892 146 66 258 8 0 6250 10 154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 10 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 534 Genomes transversion C G C>G 0.004 0.367 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C107G:p.T36S . . . 0.35882354 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 170.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aGt|T57S|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.23 0.16 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79019195 . . . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . 0.0685 0.0023 0 0 0.125 0.3 0.0003 0 . . . . 0.430 0.430000 . . . . . 1.0E-255 . . . . . . . . . 0.430 . . . . rs79019195 rs79019195 1 1538 10 1/0 0,228,255 +rs76793526 16 33962351 G T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962351 33962351 Chr16(GRCh37):g.33962351G>T 153 153 NR_038368.1:n.153C>A 1 rs76793526 yes no Frequency/1000G 2 0.000000 0 0.002184 0.061644 0.000000 0.000000 0.125000 0.000000 0.000321 0.375000 0.000000 0.375000 15 9 0 0 1 0 2 3 0 6868 146 66 258 8 0 6230 8 152 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 9 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 527 Genomes transversion C A C>A 0.000 0.528 255 PASS 0.21 0.24 0.23 0.29 0.22 . . . . . . . LINC00273:uc021thl.1:exon1:c.C90A:p.D30E . . . 0.32330826 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 133.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D51E|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.22 0.21 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76793526 . . . . . . . 0.2367216117216117 0.2073170731707317 0.23204419889502761 0.291958041958042 0.21635883905013192 . . ENST00000539813 0.497 0.497 . . . . . . . . . . . . . . . . . . . . . 0.0616 0.0022 0 0 0.125 0.375 0.0003 0 . . . . 0.571 0.571000 . . . . . 1.0E-255 . . . . . . . . . 0.571 . 0.29 . . rs76793526 rs76793526 1 1538 10 1/0 0,235,255 +rs74329268 16 33962354 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962354 33962354 Chr16(GRCh37):g.33962354C>T 150 150 NR_038368.1:n.150G>A 1 rs74329268 no no 0 0.000000 0 0.000194 0.003538 0.000113 0.000000 0.000162 0.000000 0.000059 0.000827 0.000000 0.003538 17 9 2 0 1 0 2 3 0 87490 2544 17734 5364 6188 15776 33778 3626 2480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 9 2 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.004 -0.440 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G87A:p.P29P . . . 0.36842105 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P50|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.14 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74329268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.48e-05 0.0001 0 0 0 0 0 0 0.0608 0.0022 0 0 0.125 0.3 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74329268 rs74329268 1 1538 10 1/0 0,239,255 +rs117243562 16 33962360 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962360 33962360 Chr16(GRCh37):g.33962360G>A 144 144 NR_038368.1:n.144C>T 1 rs117243562 no no 0 0.000000 0 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000043 0.000000 0.000000 0.000043 1 0 0 0 0 0 1 0 0 69758 2034 16070 4464 5404 13358 23164 3214 2050 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 31 Exomes transition C T C>T 0.047 0.367 174 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C81T:p.G27G . . . 0.10185185 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G48|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.0974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.3 0.14 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs117243562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.434e-05 0 0 0 0 4.317e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . rs117243562 rs117243562 1 1538 10 1/0 0,223,255 +rs76527999 16 33962365 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962365 33962365 Chr16(GRCh37):g.33962365C>T 139 139 NR_038368.1:n.139G>A 1 rs76527999 no no 0 0.000000 0 0.001977 0.050725 0.000000 0.000000 0.125000 0.000000 0.000335 0.375000 0.000000 0.375000 13 7 0 0 1 0 2 3 0 6574 138 64 246 8 0 5970 8 140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 7 0 0 1 0 2 3 0 0 0 0 0 0 0 0 0 0 PASS 517 Genomes transition G A G>A 0.031 0.528 254 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G76A:p.G26S . . . 0.31958762 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 97.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G47S|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.6288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.26 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76527999 . . . . . . . . . . . . . . ENST00000539813 0.497 0.497 . . . . . . . . . . . . . . . . . . . . . 0.0507 0.0020 0 0 0.125 0.375 0.0003 0 . . . . 0.571 0.571000 . . . . . 1.0000000000000001E-254 . . . . . . . . . 0.571 . . . . rs76527999 rs76527999 1 1538 10 1/0 0,249,255 +rs77075854 16 33962369 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962369 33962369 Chr16(GRCh37):g.33962369C>T 135 135 NR_038368.1:n.135G>A 1 rs77075854 no no 0 0.000000 0 transition G A G>A 0.000 -2.458 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G72A:p.W24X . . . 0.6111111 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 90.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W45*|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.5677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.22 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77075854 0.087 0.087 . . . . . . . . . . . . ENST00000539813 0.497 -0.98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.494 -2.494000 . . . . . 1.0E-255 . . . . . . . . . -2.494 . 0.087 . . rs77075854 rs77075854 1 1538 10 1/0 0,255,255 +rs79504536 16 33962375 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962375 33962375 Chr16(GRCh37):g.33962375C>G 129 129 NR_038368.1:n.129G>C 1 rs79504536 no no 0 0.000000 0 transversion G C G>C 0.004 -0.440 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G66C:p.G22G . . . 0.58441556 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggC|G43|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.4284 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.25 0.23 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79504536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79504536 rs79504536 1 1538 10 1/0 0,255,255 +rs79457451 16 33962376 C G - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962376 33962376 Chr16(GRCh37):g.33962376C>G 128 128 NR_038368.1:n.128G>C 1 rs79457451 no no 0 0.000000 0 transversion G C G>C 0.004 0.528 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G65C:p.G22A . . . 0.58666664 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 75.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G43A|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.27 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79457451 . . . . . . . . . . . . . . ENST00000539813 0.497 0.497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.571 0.571000 . . . . . 1.0E-255 . . . . . . . . . 0.571 . . . . rs79457451 rs79457451 1 1538 10 1/0 0,255,255 +rs796254279 16 33962387 C A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962387 33962387 Chr16(GRCh37):g.33962387C>A 117 117 NR_038368.1:n.117G>T 1 rs796254279 no no 0 0.000000 0 0.000514 0.001196 0.000000 0.000000 0.020000 0.000000 0.000160 0.007143 0.000000 0.020000 4 1 0 0 1 0 1 1 0 7778 836 74 252 50 0 6258 140 168 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 449 Genomes transversion G T G>T 0.000 0.528 200 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G54T:p.G18G . . . 0.16129032 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggT|G39|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.2940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0005 0 0 0.02 0.0071 0.0002 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,252,255 +rs796359885 16 33962389 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962389 33962389 Chr16(GRCh37):g.33962389C>T 115 115 NR_038368.1:n.115G>A 1 rs796359885 no no 0 0.000000 0 0.000524 0.001235 0.000000 0.000000 0.021739 0.000000 0.000162 0.009434 0.000000 0.021739 4 1 0 0 1 0 1 1 0 7632 810 82 254 46 0 6180 106 154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 445 Genomes transition G A G>A 0.000 -0.440 199 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G52A:p.G18R . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 63.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G39R|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.8421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000539813 0.497 -0.994 . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0005 0 0 0.0217 0.0094 0.0002 0 . . . . -0.543 -0.543000 . . . . . 1.0E-199 . . . . . . . . . -0.543 . . . . . . 1 1538 10 1/0 0,252,255 +rs75367546 16 33962416 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962416 33962416 Chr16(GRCh37):g.33962416G>A 88 88 NR_038368.1:n.88C>T 1 rs75367546 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71920 1810 17162 4262 5436 13722 24102 3184 2242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 31 Exomes transition C T C>T 0.000 -1.974 199 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C25T:p.R9W . . . 0.6041667 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R30W|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -1.5247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.12 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75367546 0.022 0.022 . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -2.075 -2.075000 . . . . . 1.0E-199 . . . . . . . . . -2.075 . 0.022 . . rs75367546 rs75367546 1 1538 10 1/0 0,255,255 +rs77435361 16 33962422 C A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962422 33962422 Chr16(GRCh37):g.33962422C>A 82 82 NR_038368.1:n.82G>T 1 rs77435361 no no 0 0.000000 0 transversion G T G>T 0.059 0.367 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.G19T:p.A7S . . . 0.5 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Tcg|A28S|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.7490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.3 0.24 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77435361 0.043 0.036 . . . . . . . . . . . . ENST00000539813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.419 0.419000 . . . . . 1.0E-255 . . . . . . . . . 0.419 . 0.043 . . rs77435361 rs77435361 1 1538 10 1/0 0,255,255 +rs62028812 16 33962435 G A - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962435 33962435 Chr16(GRCh37):g.33962435G>A 69 69 NR_038368.1:n.69C>T 1 rs62028812 yes no Frequency 1 0.000000 0 transition C T C>T 0.031 0.367 255 PASS . . . . . . . . . . . . LINC00273:uc021thl.1:exon1:c.C6T:p.G2G . . . 0.44444445 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G23|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.3424 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.17 182 ENSG00000256642 LINC00273 LINC00273 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028812 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs62028812 rs62028812 rs62028812 rs62028812 1 1538 10 1/0 0,255,255 +rs62028813 16 33962455 C T - LINC00273 38595 Long intergenic non-protein coding RNA 273 NR_038368.1 -1 1452 0 substitution exon GRCh37 33962455 33962455 Chr16(GRCh37):g.33962455C>T 49 49 NR_038368.1:n.49G>A 1 rs62028813 yes no Frequency/1000G 2 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000152 0.000000 0.000000 0.000000 0.000000 0.000152 1 0 0 0 1 0 0 0 0 93454 10052 16708 3672 6562 12118 35564 5854 2924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.016 0.367 255 PASS . . . . . . . . . . . . . . . . 0.34210527 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 38.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V17I|LINC00273|Non-coding_transcript|NON_CODING|NR_038368|NR_038368.ex.1) . . . . . . . -0.3514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.0028 . . . 0.45 0.39 182 ENSG00000256642 LINC00273 LINC00273 . uc021thl.1:c.-15G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62028813 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.545e-05 0 0 0.0002 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs62028813 rs62028813 rs62028813 rs62028813 1 1538 10 1/0 0,255,255 +. (chr16:33965539 G/GC) 16 33965539 G GC Not on a known gene +rs113793966 (chr16:33965554 A/G) 16 33965554 A G Not on a known gene +rs796535388 (chr16:33965561 T/C) 16 33965561 T C Not on a known gene +rs76771321 (chr16:33965591 A/C) 16 33965591 A C Not on a known gene +rs79737540 (chr16:33965593 T/C) 16 33965593 T C Not on a known gene +rs75700822 (chr16:33965626 A/G) 16 33965626 A G Not on a known gene +rs142227859 (chr16:33965643 G/C) 16 33965643 G C Not on a known gene +rs796581242 (chr16:33965646 G/A) 16 33965646 G A Not on a known gene +rs796628966 (chr16:33965647 T/G) 16 33965647 T G Not on a known gene +rs796254696 (chr16:33965652 T/C) 16 33965652 T C Not on a known gene +. (chr16:33965655 C/CG) 16 33965655 C CG Not on a known gene +rs200434350 (chr16:33965673 C/T) 16 33965673 C T Not on a known gene +rs201354069 (chr16:33965677 T/C) 16 33965677 T C Not on a known gene +. (chr16:33965682 A/AC) 16 33965682 A AC Not on a known gene +rs796202555 (chr16:33965689 A/G) 16 33965689 A G Not on a known gene +rs144283627 16 46534637 A T - ANKRD26P1 32955 Ankyrin repeat domain 26 pseudogene 1 NR_026556.1 -1 6123 0 substitution exon GRCh37 46534637 46534637 Chr16(GRCh37):g.46534637A>T 1782 1782 NR_026556.1:n.1782T>A 11 165 3' 85.5912 7.84554 0.989224 4.66902 85.5912 7.84554 0.989224 4.66902 0 rs144283627 yes no Frequency/1000G 2 0.000000 0 0.006390 0.000000 0.005100 0.000000 0.015900 0.015900 0.007310 0.001963 0.004038 0.007455 0.000125 0.004464 0.010350 0.012237 0.006849 0.012237 824 25 45 42 1 54 543 93 21 112728 12736 11144 5634 7986 12098 52464 7600 3066 0.000053 0.000000 0.000000 0.000000 0.000000 0.000000 0.000076 0.000263 0.000000 3 0 0 0 0 0 2 1 0 818 25 45 42 1 54 539 91 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.795 -0.521 255 PASS . 0.01 0.02 . 0.01 . 0.0064 0.016 . 0.016 0.0051 . ANKRD26P1:uc002eeb.3:exon11:c.T327A:p.D109E . . . 0.5531915 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaA|D594E|ANKRD26P1|Non-coding_transcript|NON_CODING|NR_026556|NR_026556.ex.11) . . . . . . . -1.1242 . . . . . . . . 3.635e-03 . . . 0.0040 0.0082 0.0127 0 0 0.0124 0.0278 0.0056 0.0056 0.0074 0.0179 0 0.25 0.0102 0.0370 0.0056 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0064 . . . 0.49 0.39 182 ENSG00000261239 ANKRD26P1 ANKRD26P1 . . . . . . 704 0.0108348 64976 672 0.0112026 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144283627 . . . . . . . 0.007326007326007326 0.0 0.019337016574585635 0.0 0.011873350923482849 VI.24 . ENST00000329373 I.94 -1.81 . 1.000000 Q68DM0 . . . . . . . . . 0.0012 0.0073 0.0039 0.0073 0 0.0136 0.0105 0.0053 0.0045 0.0023 0.0073 0.0060 0.0099 0.0006 0.0106 0.01 0.0102 . . . . -0.550 -0.550000 . . 1.000000 . . 1.0E-255 . . . . . . . . . -0.550 . 0.02 . . rs144283627 rs144283627 1 1538 10 1/0 0,255,255 +rs4624170 16 50261735 C T - PAPD5 30758 PAP associated domain containing 5 NM_001040284.2 1 8114 2097 NP_001035374.2 substitution intron GRCh37 50261735 50261735 Chr16(GRCh37):g.50261735C>T 1756-15 1756-15 NM_001040284.2:c.1756-15C>T p.? p.? 12 11 605540 -15 3' 71.4124 4.04214 0.158003 1.90569 71.4124 4.84542 0.163632 3.1154 0.0781178 Cryptic Acceptor Weakly Activated 50261750 4.04214 0.158003 71.4124 4.84542 0.163632 71.4124 rs4624170 yes no Frequency/1000G 2 C 0.000000 0 0.999601 0.998500 1.000000 1.000000 1.000000 1.000000 0.999982 0.999833 0.999971 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 276651 24014 34401 10144 18866 30772 126212 25786 6456 276656 24018 34402 10144 18866 30772 126212 25786 6456 0.999964 0.999667 0.999942 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 138323 12005 17200 5072 9433 15386 63106 12893 3228 5 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 1 1 8220 3761 11981 0 0.000265816 8.34585e-05 1 0.999734 0.999917 69 transition C T C>T 0.000 -0.198 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . 1. 1. 1. 1. 1. 1. . 0.3902 . . . . . . . . 1.000 . . . 0.9997 1.0000 1 1 1 1 1 1 0.9998 1.0000 1 1 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.5 0.29 182 ENSG00000121274 PAPD5 PAPD5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs4624170 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . 0.999917 . . . . . 0.9998 1.0000 1.0000 1 1 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs4624170 rs4624170 rs4624170 rs4624170 1 1538 255 1.I 0,0,255 +. 16 55361764 G C - IRX6 14675 Iroquois homeobox 6 NM_024335.2 1 2329 1341 NP_077311.2 P78412 substitution missense exon GRCh37 55361764 55361764 Chr16(GRCh37):g.55361764G>C 680 680 NM_024335.2:c.680G>C p.Gly227Ala p.Gly227Ala 4 606196 -42 5' 71.4965 8.55816 0.786031 5.20866 71.4965 8.55816 0.786031 5.17447 0 transversion G C G>C 0.000 1.013 G Gly GGA 0.246 A Ala GCA 0.226 227 13 9 Opossum 0 0 0 0.74 0 9 8.I 3 31 60 C0 353.86 0.00 Tolerated 0.13 III.45 bad 7.876E-4 0.001002 255 PASS . . . . . . . . . . . ENSG00000159387:ENST00000290552:exon4:c.G680C:p.G227A . IRX6:NM_024335:exon4:c.G680C:p.G227A . . 0.41666666 . . @ 20 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.016 . @ . . . . . 1 0.063 . . 48.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gCa|G227A|IRX6|mRNA|CODING|NM_024335|NM_024335.ex.4) . . . . . . . -1.1095 -1.043 -1.109 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.898 . . exonic exonic exonic . . 0.388 @ . . . . . . ENSG00000159387 IRX6 IRX6 . . . 0.957 0.282 . . . . . . . Uncertain_significance . 0 . 0.275 . . . . D 0.521 0.029 . . 37 . 0.726 . . 0.583 . . . 0.419 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.076 . . . . . 0.325 . 0.098 . HET 0.12 . . . . . . . . . . . . . 8.569 . ENST00000290552 V.43 III.48 . 0.370000 P78412 . . Name\x3dnsv833239 . . 0.258 . . III.48 . . . . . . . . . . . . . . . . . . . 0.340 . 0.668 0.668000 . . 0.370000 . . 1.0E-255 0.000 0.063 . 0.090 0.365 . 0.237 . 0.219 0.668 0.868 . . . . . 1 1538 10 1/0 0,255,255 +. 16 55728025 G C - SLC6A2 11048 Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 NM_001172504.1 1 2858 1887 NP_001165975.1 substitution missense exon GRCh37 55728025 55728025 Chr16(GRCh37):g.55728025G>C 1022 1022 NM_001172504.1:c.1022G>C p.Arg341Thr p.Arg341Thr 6 163970 -1 5' 94.6711 X.63 0.991955 2.09437 81.36 7.44718 0.873547 0 -0.189421 Sodium 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 246198 15296 33580 9850 17248 30782 111658 22300 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 114 Exomes transversion G C G>C 1.000 5.694 R Arg AGG 0.207 T Thr ACG 0.116 341 11 9 Frog -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 241.65 30.75 Deleterious 0.02 III.98 bad 1.374E-4 0.0002155 255 PASS . . . . . . . . . . . . . . . . 0.42592594 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.802 . @ . . . . . 1 0.409 . . 54.0 . . . . . . . . . . 0.8566 0.781 0.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.762 . . exonic exonic exonic . . 0.627 @ . . . . . . ENSG00000103546 SLC6A2 SLC6A2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.891 . . 0.918 . . . 0.882 0.810 . . . . 0 1 0 0 0 0 0 1 1 0 0 0.819 . . 0 0 0 0 0 0 . 0.604 . . 0.637 . . . . . . 0 0.518 . . . . . 0.880 . 0.925 . HET 0 . . . . . . . . . . . . . 17.6378 . . IV.87 IV.87 . 0.010000 . 0.9999 0.95 . . . 0.854 . . IV.87 0 4.062e-06 0 0 0 0 8.956e-06 0 0 . . . . . . . . . . 0.133 . 2.267 2.267000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.697 0.990 . 0.987 . 0.713 2.267 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs556836182 16 55736320 G A - SLC6A2 11048 Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 NM_001172504.1 1 2858 1887 NP_001165975.1 substitution intron GRCh37 55736320 55736320 Chr16(GRCh37):g.55736320G>A 1830+474 1830+474 NM_001172504.1:c.1830+474G>A p.? p.? 13 13 163970 474 5' 85.557 8.56441 0.875069 XI.67 85.557 8.56441 0.875069 XI.67 0 rs556836182 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.001000 0.001000 0.000000 0.000000 0.000388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000534 0.000859 0.001025 0.000859 12 0 0 0 0 0 8 3 1 30940 8730 838 300 1620 0 14984 3492 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 0 0 0 0 0 8 3 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -1.812 255 PASS . . . . . . 0.0004 . 0.001 . 0.001 . . . . . 0.55454546 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . . . . . . . . -0.2948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . . . . ENSG00000103546 SLC6A2 SLC6A2 . . . . . . 12 0.000184684 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs556836182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0 0.0009 0.0005 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 55807255 C T - CES1P1 18546 Carboxylesterase 1 pseudogene 1 NR_003276.2 1 2259 0 substitution intron GRCh37 55807255 55807255 Chr16(GRCh37):g.55807255C>T 737-61 737-61 NR_003276.2:n.737-61C>T p.? p.? 6 5 -61 3' 81.9539 9.0957 0.700294 8.43908 81.9539 9.0957 0.700294 8.63652 0 Cryptic Donor Strongly Activated 55807253 75.5025 9.35354 0.988995 78.5965 0.000072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000304 0.001176 0.000304 2 0 0 0 0 0 0 1 1 27860 8334 726 258 1224 0 13178 3290 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 PASS 34 Genomes transition C T C>T 0.000 -1.328 188 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . INTRON(MODIFIER||||CES1P1|Non-coding_transcript|NON_CODING|NR_003276|) . . . . . . . -0.6366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000228695 CES1P1 CES1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.179e-05 0 0 0 0.0003 0 0.0012 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs553046509 16 55807295 T A - CES1P1 18546 Carboxylesterase 1 pseudogene 1 NR_003276.2 1 2259 0 substitution intron GRCh37 55807295 55807295 Chr16(GRCh37):g.55807295T>A 737-21 737-21 NR_003276.2:n.737-21T>A p.? p.? 6 5 -21 3' 81.9539 9.0957 0.700294 8.43908 81.9539 9.0957 0.755237 7.86345 0.0261523 rs553046509 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000281 0.000119 0.000291 0.000342 0.000000 0.001091 0.000186 0.000059 0.000248 0.001091 45 2 6 2 0 21 12 1 1 160156 16834 20608 5842 12104 19254 64504 16976 4034 0.000100 0.000000 0.000194 0.000000 0.000000 0.000623 0.000000 0.000000 0.000000 8 0 2 0 0 6 0 0 0 29 2 2 2 0 9 12 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 0.125 255 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.3478261 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 115.0 . . INTRON(MODIFIER||||CES1P1|Non-coding_transcript|NON_CODING|NR_003276|) . . . . . . . 0.1757 . . . . . . . . 3.737e-04 . . . 0.0003 0.0009 0 0 0 0.0006 0 0.0022 0.0005 0.0009 0 0 0 0.0004 0 0.0022 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . 0.0004 . . . 0.35 0.28 182 ENSG00000228695 CES1P1 CES1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs553046509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0003 0.0004 0 7.254e-05 0.0002 0.0003 0.0011 0.0001 3.786e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76050868 rs76050868 1 1538 10 1/0 0,240,255 +rs4784587 16 55854473 T C - CES1 1863 Carboxylesterase 1 NM_001025195.1 -1 2013 1707 NP_001020366.1 substitution intron GRCh37 55854473 55854473 Chr16(GRCh37):g.55854473T>C 694-82 694-82 NM_001025195.1:c.694-82A>G p.? p.? 6 5 114835 -82 3' 81.9539 9.0957 0.700294 8.1087 81.9539 9.0957 0.700294 8.27375 0 Cryptic Donor Strongly Activated 55854473 0.006266 53.6163 0.464375 0.05554 65.7524 rs4784587 no no 0 0.000000 0 0.003284 0.001980 0.002793 0.000000 0.000638 0.000000 0.004719 0.002437 0.003686 0.004719 85 15 2 0 1 0 57 7 3 25882 7576 716 258 1568 0 12078 2872 814 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 15 2 0 1 0 57 7 3 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition A G A>G 0.000 -1.086 199 PASS . . . . . . . . . . . . . . . . 0.1570248 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . -0.5050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.31 182 ENSG00000198848 CES1 CES1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0033 0.0028 0 0.0006 0.0024 0.0047 0.0037 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . 0.033 rs4784587 rs4784587 rs4784587 rs4784587 1 1538 10 1/0 0,224,255 +rs750516217 16 56536655 G A - BBS2 967 Bardet-Biedl syndrome 2 NM_031885.3 -1 2814 2166 NP_114091.3 Q9BXC9 substitution synonymous exon GRCh37 56536655 56536655 Chr16(GRCh37):g.56536655G>A 870 870 NM_031885.3:c.870C>T p.Ala290= p.Ala290Ala 8 606151 66 3' 93.1348 9.10877 0.988246 VIII.63 93.1348 9.10877 0.988246 8.41789 0 Cryptic Acceptor Strongly Activated 56536644 0.697808 0.007993 64.2014 0.895913 0.01455 68.3033 WD40-repeat-containing domain Bardet-Biedl syndrome 2 protein rs750516217 yes no Frequency 1 G 0.000000 0 0.000069 0.000000 0.000029 0.000000 0.000583 0.000000 0.000055 0.000000 0.000000 0.000583 19 0 1 0 11 0 7 0 0 277156 24036 34418 10144 18866 30778 126660 25790 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 1 0 11 0 7 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 0.125 A Ala GCC 0.403 A Ala GCT 0.263 290 255 PASS . . . . . . . . . . . . . BBS2:NM_031885:exon8:c.C870T:p.A290A . . 0.3918919 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 74.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A290|BBS2|mRNA|CODING|NM_031885|NM_031885.ex.8) . . . . . . . I.64 . . . . . . . . 7.103e-05 . . . 0 5.517e-05 8.658e-05 0.0002 0 7.13e-05 0 0 0 5.651e-05 8.925e-05 0.0004 0 3.68e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125124 BBS2 BBS2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs750516217 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833243 . . . . . III.57 0 6.905e-05 2.978e-05 0 0.0005 0 6.269e-05 0 0 0 6.459e-05 0 0 0.0012 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr16:57847634 A/ATGCAGGTG) 16 57847634 A ATGCAGGTG Not on a known gene +rs2098739 (chr16:57847635 C/G) 16 57847635 C G Not on a known gene +. (chr16:57847635 C/CGCAGGGGG) 16 57847635 C CGCAGGGGG Not on a known gene +rs188862189 16 58320130 C A - PRSS54 26336 Protease, serine, 54 NM_001080492.1 -1 1810 1188 NP_001073961.1 Q6PEW0 substitution intron GRCh37 58320130 58320130 Chr16(GRCh37):g.58320130C>A 264-31 264-31 NM_001080492.1:c.264-31G>T p.? p.? 5 4 -31 3' 91.2689 XII.77 0.97061 5.13668 91.2689 XII.77 0.97061 5.34131 0 Cryptic Acceptor Strongly Activated 58320120 5.59882 0.124632 76.3071 7.92358 0.64278 79.6217 rs188862189 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.000677 0.000083 0.000349 0.000000 0.000000 0.000392 0.001200 0.000117 0.001088 0.001200 186 2 12 0 0 12 150 3 7 274944 24036 34338 10034 18868 30604 124968 25662 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 2 12 0 0 12 150 3 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4395 12990 5 1 6 0.000581395 0.00022748 0.000461681 0.000581395 0.00022748 0.000461681 96 transversion G T G>T 0.000 0.044 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0029 . 0.001 . . . . . . 0.33333334 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . 0.0002 0.0005 0.0006 0.0002 0.0005 0.0006 . 0.0798 . . . . . . . . 8.210e-04 . . . 0.0002 0.0006 0.0004 0 0.0003 0.0010 0.0014 0.0004 0.0002 0.0008 0.0004 0 0.0005 0.0013 0 0.0004 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.21 0.07 182 ENSG00000103023 PRSS54 PRSS54 . . . . . . 40 0.000615612 64976 37 0.000616811 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs188862189 . . . . . . . . . . . . . . . . . . . . . . . 0.000462 . . . . . 6.534e-05 0.0006 0.0004 0 0 0.0001 0.0011 0.0007 0.0004 0.0001 0.0010 0 0 0 0 0.0017 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs188862189 rs188862189 1 1538 10 1/0 0,255,255 +rs369419200 16 58616794 G A - CNOT1 7877 CCR4-NOT transcription complex, subunit 1 NM_016284.4 -1 8476 7131 NP_057368.3 A5YKK6 substitution missense exon GRCh37 58616794 58616794 Chr16(GRCh37):g.58616794G>A 947 947 NM_016284.4:c.947C>T p.Pro316Leu p.Pro316Leu 10 604917 14 3' 92.6162 5.70164 0.836693 2.18435 92.6162 5.70164 0.87545 2.10197 0.0154405 Cryptic Acceptor Weakly Activated 58616787 4.0541 0.00719 75.5862 4.38897 0.011503 77.0968 rs369419200 yes no Frequency 1 G 0.000000 0 0.000083 0.000042 0.000145 0.000000 0.000000 0.000033 0.000118 0.000039 0.000000 0.000145 23 1 5 0 0 1 15 1 0 276910 24020 34366 10130 18848 30734 126586 25766 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 1 5 0 0 1 15 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4396 12995 1 0 1 0.000116279 0 7.69468e-05 0.000116279 0 7.69468e-05 107 COSM3510662|COSM3510662 Skin|Haematopoietic and lymphoid tissue 0.000812|0.000796 1232|3770 transition C T C>T 1.000 6.259 P Pro CCG 0.115 L Leu CTG 0.404 316 13 10 Fruitfly -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 209.54 94.04 Deleterious 0.01 3.XII 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.682 . @ . . . . . 1 0.655 . . 52.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.5413 0.649 0.541 c . . . . . 7.103e-05 . . . 9.677e-05 8.83e-05 8.655e-05 0 0 0.0001 0 0 0.0001 7.539e-05 8.924e-05 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.945 @ . . . 0.69 0.24 182 ENSG00000125107 CNOT1 CNOT1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.619 0.045 . . 37 . 0.495 . . 0.220 . . . 0.331 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.777 . . 0 0 0 0 0 0 . 0.899 . . 0.818 . . . . . . 0 0.632 . . . . . 0.984 . 0.897 . HET 0.01 rs369419200 . . . . . . . . . . . . 20.2422 0.0 . V.88 V.88 . . . . . . 0.000077 . 0.756 . . V.88 6.539e-05 8.538e-05 0.0001 0 0 4.49e-05 0.0001 0 3.254e-05 0 6.46e-05 0 0 0 0 0.0001 0 . . 0.730 . 2.788 2.788000 . . . . . 1.0E-255 1.000 0.715 . 0.697 0.992 . 0.980 . 0.551 2.788 0.917 0.0001 . . rs369419200 rs369419200 1 1538 10 1/0 0,255,255 +rs12933313 16 58757568 G A - GOT2 4433 Glutamic-oxaloacetic transaminase 2, mitochondrial NM_002080.3 -1 2462 1293 NP_002071.2 P00505 substitution intron GRCh37 58757568 58757568 Chr16(GRCh37):g.58757568G>A 246+82 246+82 NM_002080.3:c.246+82C>T p.? p.? 2 2 138150 82 5' 89.5524 9.59704 0.990789 5.76725 89.5524 9.59704 0.990789 5.75756 0 rs12933313 yes no Frequency/1000G 2 G 0.000000 0 0.003994 0.001500 0.003100 0.000000 0.010900 0.005800 0.008041 0.004467 0.005967 0.000000 0.000000 0.000000 0.012397 0.002864 0.009184 0.012397 249 39 5 0 0 0 186 10 9 30966 8730 838 302 1620 0 15004 3492 980 0.004016 0.025641 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 247 37 5 0 0 0 186 10 9 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.000 -1.732 255 PASS 0.002 0.01 0.01 . 0.01 0.0015 0.004 0.0058 . 0.011 0.0031 . . . . . 0.37313432 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.1960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.15 0.09 182 ENSG00000125166 GOT2 GOT2 . . . . . . 749 0.0115273 64976 730 0.0121695 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12933313 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0045 0.0080 0.0060 0 0 0.0029 0.0124 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs12933313 rs12933313 rs12933313 rs12933313 1 1538 10 1/0 0,255,255 +rs539699954 16 66785343 G A - DYNC1LI2 2966 Dynein, cytoplasmic 1, light intermediate chain 2 NM_006141.2 -1 4336 1479 NP_006132.1 O43237 substitution intron GRCh37 66785343 66785343 Chr16(GRCh37):g.66785343G>A 107+45 107+45 NM_006141.2:c.107+45C>T p.? p.? 1 1 611406 45 5' 81.8011 7.61415 0.871508 XII.54 81.8011 7.61415 0.871508 XII.19 0 rs539699954 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000025 0.000000 0.000000 0.000000 0.000000 0.000000 0.000055 0.000000 0.000000 0.000055 5 0 0 0 0 0 5 0 0 201640 8968 27514 8412 12764 27424 91558 20638 4362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Exomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.3602941 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . I.02 . . . . . . . . 1.637e-05 . . . 0 2.808e-05 0 0 0 6.489e-05 0 0 0 2.278e-05 0 0 0 4.512e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000135720 DYNC1LI2 DYNC1LI2 . . . . . . 6 9.23418e-05 64976 5 8.33528e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs539699954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.48e-05 0 0 0 0 5.461e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +rs201102355 16 67218391 C T - EXOC3L1 27540 Exocyst complex component 3-like 1 NM_178516.3 -1 2497 2241 NP_848611.2 Q86VI1 substitution missense exon GRCh37 67218391 67218391 Chr16(GRCh37):g.67218391C>T 2147 2147 NM_178516.3:c.2147G>A p.Arg716His p.Arg716His 14 614117 117 3' 78.7228 8.44538 0.382708 7.59255 78.7228 8.44538 0.382708 7.59255 0 Exocyst complex component Sec6 rs201102355 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.007000 0.000000 0.005179 0.001312 0.001731 0.001715 0.000098 0.004714 0.009276 0.002091 0.003506 0.009276 765 16 40 13 1 100 562 18 15 147720 12192 23102 7580 10160 21212 60588 8608 4278 0.000054 0.000000 0.000000 0.000000 0.000000 0.000189 0.000066 0.000000 0.000000 4 0 0 0 0 2 2 0 0 757 16 40 13 1 96 558 18 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5726 2854 8580 34 6 40 0.00590278 0.0020979 0.00464037 0.00590278 0.0020979 0.00464037 4 transition G A G>A 0.961 2.304 R Arg CGC 0.190 H His CAC 0.587 716 11 8 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 140.59 0.00 Tolerated 0.18 II.76 good 4.136E-1 0.1661 255 PASS 0.01 0.0027 . . 0.004 . 0.0018 . . 0.007 0.002 ENSG00000179044:ENST00000314586:exon14:c.G2147A:p.R716H . EXOC3L1:NM_178516:exon14:c.G2147A:p.R716H . . 0.46774194 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.473 . @ . . . . . 1 0.396 . . 62.0 . . . 0.0021 0.0046 0.0059 0.0021 0.0046 0.0059 . 0.3789 0.274 0.379 c . . . . . 2.890e-03 . . . 0.0023 0.0065 0.0083 0 0 0.0073 0 0.0066 0 0.0061 0.0093 0 0 0.0064 0 0.0066 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.528 0.0018 . . . 0.45 0.43 182 ENSG00000179044 EXOC3L1 EXOC3L1 . . . 1.000 0.747 . 340 0.0052327 64976 331 0.00551795 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.187 . . 0.004 . . . 0.844 0.438 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.899 . . 0.797 . . . . . . 0 0.270 . . . . . 0.485 . 0.576 . HET 0.14 rs201102355 . . . . . . . 0.0027472527472527475 0.006097560975609756 0.0 0.0 0.00395778364116095 XI.27 0.001399 ENST00000314586 V.44 IV.43 . 0.300000 Q86VI1 . . . 0.004640 . 0.296 . . IV.43 0.0011 0.0054 0.0017 0.0018 0.0001 0.0021 0.0099 0.0036 0.0047 0.0014 0.0044 0.0024 0 0 0.0020 0.0074 0.0031 . . 0.062 . 2.543 2.543000 . . 0.300000 . . 1.0E-255 0.384 0.258 . 0.143 0.300 . 0.246 . 0.490 2.543 0.871 0.01 . . rs201102355 rs201102355 1 1538 10 1/0 0,255,255 +rs201102355 16 67218391 C T - KIAA0895L 34408 KIAA0895-like NM_001040715.1 -1 3400 1416 NP_001035805.1 Q68EN5 substitution upstream GRCh37 67218391 67218391 Chr16(GRCh37):g.67218391C>T -1283 -1283 NM_001040715.1:c.-1283G>A p.? p.? 1 -1227 5' 86.7716 9.81343 0.982175 3.84678 86.7716 9.81343 0.982175 3.84678 0 rs201102355 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.007000 0.000000 0.005179 0.001312 0.001731 0.001715 0.000098 0.004714 0.009276 0.002091 0.003506 0.009276 765 16 40 13 1 100 562 18 15 147720 12192 23102 7580 10160 21212 60588 8608 4278 0.000054 0.000000 0.000000 0.000000 0.000000 0.000189 0.000066 0.000000 0.000000 4 0 0 0 0 2 2 0 0 757 16 40 13 1 96 558 18 15 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5726 2854 8580 34 6 40 0.00590278 0.0020979 0.00464037 0.00590278 0.0020979 0.00464037 4 transition G A G>A 0.961 2.304 255 PASS 0.01 0.0027 . . 0.004 . 0.0018 . . 0.007 0.002 ENSG00000179044:ENST00000314586:exon14:c.G2147A:p.R716H . EXOC3L1:NM_178516:exon14:c.G2147A:p.R716H . . 0.46774194 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.473 . @ . . . . . 1 0.396 . . 62.0 . . . 0.0021 0.0046 0.0059 0.0021 0.0046 0.0059 . 0.3789 0.274 0.379 c . . . . . 2.890e-03 . . . 0.0023 0.0065 0.0083 0 0 0.0073 0 0.0066 0 0.0061 0.0093 0 0 0.0064 0 0.0066 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.078 . . exonic exonic exonic . . 0.528 0.0018 . . . 0.45 0.43 182 ENSG00000179044 EXOC3L1 EXOC3L1 . . . 1.000 0.747 . 340 0.0052327 64976 331 0.00551795 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.187 . . 0.004 . . . 0.844 0.438 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.240 . . 0 0 0 0 0 0 . 0.899 . . 0.797 . . . . . . 0 0.270 . . . . . 0.485 . 0.576 . HET 0.14 rs201102355 . . . . . . . 0.0027472527472527475 0.006097560975609756 0.0 0.0 0.00395778364116095 XI.27 0.001399 ENST00000314586 V.44 IV.43 . 0.300000 Q86VI1 . . . 0.004640 . 0.296 . . IV.43 0.0011 0.0054 0.0017 0.0018 0.0001 0.0021 0.0099 0.0036 0.0047 0.0014 0.0044 0.0024 0 0 0.0020 0.0074 0.0031 . . 0.062 . 2.543 2.543000 . . 0.300000 . . 1.0E-255 0.384 0.258 . 0.143 0.300 . 0.246 . 0.490 2.543 0.871 0.01 . . rs201102355 rs201102355 1 1538 10 1/0 0,255,255 +rs770664121 16 67267764 C G - FHOD1 17905 Formin homology 2 domain containing 1 NM_001318202.1 -1 3932 3573 NP_001305131.1 substitution synonymous exon GRCh37 67267764 67267764 Chr16(GRCh37):g.67267764C>G 1920 1920 NM_001318202.1:c.1920G>C p.Val640= p.Val640Val 15 606881 -205 5' 87.5418 8.88433 0.996542 8.72165 87.5418 8.88433 0.996542 8.72165 0 rs770664121 yes no Frequency 1 C 0.000000 0 0.000105 0.000000 0.000000 0.000000 0.000000 0.000000 0.000224 0.000000 0.000160 0.000224 28 0 0 0 0 0 27 0 1 266106 22630 33510 9848 18302 29940 120774 24840 6262 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 0 0 0 0 0 27 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -1.732 V Val GTG 0.468 V Val GTC 0.240 640 255 PASS . . . . . . . . . . . ENSG00000135723:ENST00000258201:exon13:c.G1842C:p.V614V . FHOD1:NM_013241:exon13:c.G1842C:p.V614V . . 0.34615386 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . 0.0216 . . . . . . . . 1.265e-04 . . . 0 7.412e-05 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0003 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000135723 FHOD1 FHOD1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs770664121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0.0002 0 0 9.756e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 68373608 T G - PRMT7 25557 Protein arginine methyltransferase 7 NM_001351143.1 1 3194 2142 NP_001338072.1 substitution intron GRCh37 68373608 68373608 Chr16(GRCh37):g.68373608T>G 747-83 747-83 NM_001351143.1:c.747-83T>G p.? p.? 9 8 610087 -83 3' 81.8182 4.95845 0.280229 2.78732 81.8182 4.95845 0.280229 2.78732 0 rs920984798 no no 0 T 0.000000 0 transversion T G T>G 0.016 0.851 255 PASS . . . . . . . . . . . . . . . . 0.57575756 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.3377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132600 PRMT7 PRMT7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs372375423 16 68373764 C T - PRMT7 25557 Protein arginine methyltransferase 7 NM_001351143.1 1 3194 2142 NP_001338072.1 substitution stop gain exon GRCh37 68373764 68373764 Chr16(GRCh37):g.68373764C>T 820 820 NM_001351143.1:c.820C>T p.Arg274* p.Arg274* 9 610087 74 3' 81.8182 4.95845 0.280229 2.78732 81.8182 4.95845 0.280229 2.56769 0 rs372375423 yes no Frequency 1 C 0.000000 0 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000054 0.000000 0.000182 0.000054 7 0 0 0 0 0 6 0 1 246270 15304 33582 9850 17248 30782 111718 22300 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 6 0 1 0 0 0 0 0 0 0 0 0 PASS 67 Exomes 8599 4396 12995 1 0 1 0.000116279 0 7.69468e-05 0.000116279 0 7.69468e-05 88 transition C T C>T 0.126 0.770 R Arg CGA 0.110 * * TGA 0.489 274 255 PASS . . . . . . . . . . . . . . . . 0.47959185 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.976 . @ . . . . . 0 0.787 . . 98.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.7359 0.567 0.736 c . . . . . 3.157e-05 . . . 0 3.306e-05 0 0 0 7.119e-05 0 0 0 1.883e-05 0 0 0 3.68e-05 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.638 @ . . . 0.54 0.4 182 ENSG00000132600 PRMT7 PRMT7 . . . 0.999 0.398 . . . . . . . Uncertain_significance . 0 . 0.177 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.296 . . . HET 0.78 rs372375423 . . . . . . . . . . . . 8.0569 . . V.91 IV.91 . 0.660000 . . . . 0.000077 . 0.245 . . IV.91 0 2.842e-05 0 0 0 0 5.371e-05 0.0002 0 . . . . . . . . . . 0.730 . 2.799 2.799000 . . 0.660000 . . 1.0E-255 0.137 0.232 . 0.507 0.992 . 0.419 . 0.490 2.799 -0.058 0.0001 . . rs372375423 rs372375423 1 1538 10 1/0 0,255,255 +rs368087822 16 68598634 T C - ZFP90 23329 ZFP90 zinc finger protein NM_001305203.1 1 4651 1911 NP_001292132.1 Q8TF47 substitution 3'UTR GRCh37 68598634 68598634 Chr16(GRCh37):g.68598634T>C *33 *33 NM_001305203.1:c.*33T>C p.? p.? 5 609451 1688 3' 86.7509 7.39284 0.903301 5.67899 86.7509 7.39284 0.903301 5.67899 0 rs368087822 yes no Frequency/1000G 2 T 0.000000 0 0.001198 0.000000 0.006100 0.000000 0.000000 0.000000 0.001330 0.000130 0.000392 0.000000 0.000000 0.008552 0.000898 0.000182 0.001937 0.008552 308 3 10 0 0 181 100 4 10 231572 23128 25498 6562 16760 21164 111312 21986 5162 0.000026 0.000000 0.000000 0.000000 0.000000 0.000284 0.000000 0.000000 0.000000 3 0 0 0 0 3 0 0 0 302 3 10 0 0 175 100 4 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8239 3802 12041 7 0 7 0.000848896 0 0.000581009 0.000848896 0 0.000581009 33 transition T C T>C 0.000 0.286 255 PASS . . . . . . 0.0012 . . . 0.0061 . . . . . 0.52 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 25.0 . . . . 0.0006 0.0008 . 0.0006 0.0008 . -0.2617 . . . . . . . . 1.567e-03 . . . 0 0.0022 0.0009 0 0.0003 0.0011 0.0036 0.0106 0 0.0020 0.0009 0 0.0005 0.0009 0.0019 0.0106 . . . . . . UTR3 UTR3 UTR3 . . . 0.0012 . . . 0.51 0.57 182 ENSG00000184939 ZFP90 ZFP90 . . . . . . 43 0.000661783 64976 37 0.000616811 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0 rs368087822 . . . . . . . . . . . . VI.86 0.0 ENST00000327567 V.33 3.IV . 0.010000 . . . Name\x3dnsv457515 0.000581 . . . . 3.IV 0 0.0014 0.0004 0 0 0.0002 0.0009 0.0014 0.0086 0.0003 0.0006 0 0 0 0 0.0009 0.0041 . . . . 0.419 0.419000 . . 0.010000 . . 1.0E-255 . . . . . . . . . 0.419 . 0.0008 . . rs368087822 rs368087822 1 1538 10 1/0 0,255,255 +rs117666466 16 69149310 G A - HAS3 4820 Hyaluronan synthase 3 NM_005329.2 1 4220 1662 NP_005320.2 O00219 substitution 3'UTR GRCh37 69149310 69149310 Chr16(GRCh37):g.69149310G>A *141 *141 NM_005329.2:c.*141G>A p.? p.? 4 602428 1065 3' 88.812 X.73 0.952264 10.1402 88.812 X.73 0.952264 10.1402 0 rs117666466 yes no Frequency/1000G 2 G 0.000000 0 0.005192 0.000000 0.016400 0.000000 0.008900 0.001400 0.008723 0.002062 0.008373 0.003311 0.001233 0.000000 0.011941 0.015169 0.010183 0.015169 270 18 7 1 2 0 179 53 10 30954 8728 836 302 1622 0 14990 3494 982 0.011111 0.000000 0.000000 0.000000 0.000000 0.000000 0.011173 0.018868 0.000000 3 0 0 0 0 0 2 1 0 264 18 7 1 2 0 175 51 10 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.913 0.286 255 PASS . 0.01 . . 0.01 . 0.0052 0.0014 . 0.0089 0.016 . . . . . 0.5208333 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 48.0 . . . . . . . . . . 1.0567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0052 . . . 0.51 0.71 182 ENSG00000103044 HAS3 HAS3 . . . . . . 742 0.0114196 64976 716 0.0119361 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117666466 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv906819 . . . . . . . . . . . . . . . 0.0021 0.0087 0.0084 0.0033 0.0012 0.0152 0.0119 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs117666466 rs117666466 1 1538 10 1/0 0,255,255 +. 16 69994884 C T - CLEC18A 30388 C-type lectin domain family 18, member A NM_001136214.2 1 2215 1341 NP_001129686.1 A5D8T8 substitution intron GRCh37 69994884 69994884 Chr16(GRCh37):g.69994884C>T 984+30 984+30 NM_001136214.2:c.984+30C>T p.? p.? 9 9 616571 30 5' 77.6128 5.48956 0.463904 6.80358 77.6128 5.48956 0.463904 6.61947 0 transition C T C>T 0.000 -0.037 205 PASS . . . . . . . . . . . . CLEC18A:uc010vlp.2:exon8:c.C1014T:p.T338T . . . 0.175 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.3344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.51 0.35 182 ENSG00000157322 CLEC18A CLEC18A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . rs4887765 rs4887765 rs4887765 rs4887765 1 1538 10 1/0 0,255,255 +rs62054261 16 69995583 T C - CLEC18A 30388 C-type lectin domain family 18, member A NM_001136214.2 1 2215 1341 NP_001129686.1 A5D8T8 substitution missense exon GRCh37 69995583 69995583 Chr16(GRCh37):g.69995583T>C 1079 1079 NM_001136214.2:c.1079T>C p.Ile360Thr p.Ile360Thr 10 616571 -36 5' 82.5954 11.1124 0.990075 16.2408 82.5954 11.1124 0.990075 16.5949 0 C-type lectin rs62054261 yes no Frequency 1 0.000000 0 COSM5424693 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.976 0.609 I Ile ATT 0.356 T Thr ACT 0.243 360 12 2 Gorilla -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 1 III.83 255 PASS . . . . . . . . . . . . . . . . 0.5272727 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.012 . . 55.0 . . . . . . . . . . -0.8600 -0.710 -0.860 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . 0.247 @ . . . 0.42 0.44 182 ENSG00000157322 CLEC18A CLEC18A . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . 0.353 . . . . T 0.041 0.002 . . 37 . 0.078 . . 0.333 . . . 0.004 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.121 . 0.026 . HET 0.28 rs62054261 . . . . . . . . . . . . IV.68 . . 1.IX 1.IX . . A5D8T8 . . . . . 0.093 . . . . . . . . . . . . . . . . . . . . . . 0.246 . 0.369 0.369000 . . . . . 1.0E-255 0.987 0.361 . 0.289 0.943 . 0.469 . 0.105 0.369 -0.075 . rs62054261 rs62054261 rs62054261 rs62054261 1 1538 10 1/0 0,255,255 +. 16 69995663 A G - CLEC18A 30388 C-type lectin domain family 18, member A NM_001136214.2 1 2215 1341 NP_001129686.1 A5D8T8 substitution intron GRCh37 69995663 69995663 Chr16(GRCh37):g.69995663A>G 1114+45 1114+45 NM_001136214.2:c.1114+45A>G p.? p.? 10 10 616571 45 5' 82.5954 11.1124 0.990075 16.2408 82.5954 11.1124 0.990075 16.4034 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition A G A>G 0.000 0.125 183 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.1903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000157322 . CLEC18A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 70217792 C T - CLEC18C 28538 C-type lectin domain family 18, member C NM_173619.3 1 1822 1341 NP_775890.2 Q8NCF0 substitution intron GRCh37 70217792 70217792 Chr16(GRCh37):g.70217792C>T 984+30 984+30 NM_173619.3:c.984+30C>T p.? p.? 8 8 616573 30 5' 77.6128 5.48956 0.463904 6.80358 77.6128 5.48956 0.463904 6.61947 0 transition C T C>T 0.000 -0.117 191 PASS . . . . . . . . . . . . . . . . 0.13953489 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||CLEC18C|mRNA|CODING|NM_173619|) . . . . . . . 0.0277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.39 182 ENSG00000157335 CLEC18C CLEC18C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . rs4887765 rs4887765 rs4887765 rs4887765 1 1538 10 1/0 0,255,255 +. 16 70218491 T C - CLEC18C 28538 C-type lectin domain family 18, member C NM_173619.3 1 1822 1341 NP_775890.2 Q8NCF0 substitution missense exon GRCh37 70218491 70218491 Chr16(GRCh37):g.70218491T>C 1079 1079 NM_173619.3:c.1079T>C p.Ile360Thr p.Ile360Thr 9 616573 -36 5' 82.5954 11.1124 0.990075 16.2408 82.5954 11.1124 0.990075 16.5949 0 C-type lectin COSM5427760 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.913 1.577 I Ile ATT 0.356 T Thr ACT 0.243 360 12 2 Gorilla -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 1 III.83 255 PASS . . . . . . . . . . . . . CLEC18C:NM_173619:exon9:c.T1079C:p.I360T . . 0.35185185 . . @ 19 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.003 . . 54.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I360T|CLEC18C|mRNA|CODING|NM_173619|NM_173619.ex.9) . . . . . . . -0.9371 -0.738 -0.937 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.171 . . exonic exonic exonic . . 0.540 @ . . . 0.56 0.47 182 ENSG00000157335 CLEC18C CLEC18C . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.353 . . . . T 0.165 0.006 . . 37 . 0.058 . . 0.228 . . . 0.011 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.356 . 0.022 . HET 1 . . . . . . . . . . . . . 9.0945 . . IV.49 IV.49 . 0.590000 . . . . . . 0.172 . . IV.49 . . . . . . . . . . . . . . . . . . . 0.246 . 1.020 1.020000 . . 0.590000 . . 1.0E-255 0.994 0.380 . 0.307 0.966 . 0.506 . 0.129 1.020 -0.026 . rs62054261 rs62054261 rs62054261 rs62054261 1 1538 10 1/0 0,255,255 +. 16 70219504 G A - CLEC18C 28538 C-type lectin domain family 18, member C NM_173619.3 1 1822 1341 NP_775890.2 Q8NCF0 substitution intron GRCh37 70219504 70219504 Chr16(GRCh37):g.70219504G>A 1212-284 1212-284 NM_173619.3:c.1212-284G>A p.? p.? 11 10 616573 -284 3' 77.7184 3.40527 0.270985 6.58314 77.7184 3.40527 0.270985 6.58314 0 Cryptic Donor Strongly Activated 70219501 2.59004 0.132503 67.5339 7.47864 0.821592 71.8962 0.002578 0.026061 0.000306 0.000000 0.001455 0.000541 0.000290 0.007620 0.001229 0.026061 128 86 3 0 7 3 6 21 2 49656 3300 9790 1168 4810 5544 20660 2756 1628 0.000362 0.004848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000726 0.000000 9 8 0 0 0 0 0 1 0 110 70 3 0 7 3 6 19 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.924 213 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . INTRON(MODIFIER||||CLEC18C|mRNA|CODING|NM_173619|) . . . . . . . -0.3691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000157335 CLEC18C CLEC18C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0280 0.0026 0.0003 0 0.0015 0.0075 0.0004 0.0015 0.0005 0.0066 0.0024 0 0 0 0.0077 0 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs144804052 16 70605531 G A - SF3B3 10770 Splicing factor 3b, subunit 3, 130kDa NM_012426.4 1 9720 3654 NP_036558.3 Q15393 substitution intron GRCh37 70605531 70605531 Chr16(GRCh37):g.70605531G>A 3514-45 3514-45 NM_012426.4:c.3514-45G>A p.? p.? 26 25 605592 -45 3' 75.4366 7.99307 0.822618 8.75241 75.4366 7.99307 0.822618 8.25596 0 New Acceptor Site 70605533 7.46943 0.740714 83.6048 rs144804052 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.008000 0.005800 0.008449 0.002356 0.007220 0.023878 0.000000 0.000073 0.011890 0.008866 0.009388 0.023878 2143 55 202 199 0 2 1415 216 54 253626 23348 27978 8334 17564 27280 119008 24362 5752 0.000134 0.000000 0.000000 0.000960 0.000000 0.000000 0.000151 0.000246 0.000348 17 0 0 4 0 0 9 3 1 2109 55 202 191 0 2 1397 210 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8499 4382 12881 101 14 115 0.0117442 0.00318471 0.00884888 0.0117442 0.00318471 0.00884888 26 transition G A G>A 0.008 0.448 255 PASS . 0.0032 0.01 . 0.01 . 0.0024 0.0058 . 0.008 . . . . . . 0.41428572 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||SF3B3|mRNA|CODING|NM_012426|) 0.0032 0.0088 0.012 0.0032 0.0088 0.012 . 0.4243 . . . . . . . . 7.933e-03 . . . 0.0018 0.0073 0.0067 0 0.0069 0.0125 0.0103 0 0.0018 0.0076 0.0064 0 0.0072 0.0121 0.0120 0 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.48 0.26 182 ENSG00000189091 SF3B3 SF3B3 . . . . . . 667 0.0102653 64976 655 0.0109192 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144804052 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7285 0.008849 . . . . . 0.0026 0.0084 0.0073 0.0237 0 0.0086 0.0116 0.0098 7.331e-05 0.0019 0.0090 0.0060 0.0298 0 0.0103 0.0136 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs144804052 rs144804052 1 1538 10 1/0 0,255,255 +rs146617185 16 70815838 G A - VAC14 25507 Vac14, PIKFYVE complex component NM_018052.4 -1 3114 2349 NP_060522.3 Q08AM6 substitution synonymous exon GRCh37 70815838 70815838 Chr16(GRCh37):g.70815838G>A 880 880 NM_018052.4:c.880C>T p.Leu294= p.Leu294Leu 8 604632 -67 5' 58.9091 0.444027 0.011695 1.46739 58.9091 0.444027 0.011695 1.07295 0 Armadillo-type fold rs146617185 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.003000 0.004300 0.002397 0.000666 0.001656 0.003645 0.000053 0.000585 0.003231 0.003840 0.004180 0.003840 664 16 57 37 1 18 409 99 27 277068 24020 34420 10150 18868 30782 126584 25784 6460 0.000036 0.000000 0.000000 0.000000 0.000000 0.000065 0.000016 0.000078 0.000619 5 0 0 0 0 1 1 1 2 654 16 57 37 1 16 407 97 23 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8572 4394 12966 28 2 30 0.00325581 0.000454959 0.0023084 0.00325581 0.000454959 0.0023084 51 transition C T C>T 1.000 2.304 L Leu CTG 0.404 L Leu TTG 0.127 294 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0014 0.0043 . 0.003 0.001 ENSG00000103043:ENST00000261776:exon8:c.C880T:p.L294L . VAC14:NM_018052:exon8:c.C880T:p.L294L . . 0.41379312 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L294|VAC14|mRNA|CODING|NM_018052|NM_018052.ex.8) 0.0005 0.0023 0.0033 0.0005 0.0023 0.0033 . I.82 . . . . . . . . 2.447e-03 . . . 0.0004 0.0024 0.0017 0 0.0047 0.0039 0 0.0005 0.0003 0.0024 0.0018 0 0.0046 0.0035 0 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.52 0.37 182 ENSG00000103043 VAC14 VAC14 . . . . . . 152 0.00233933 64976 145 0.00241723 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146617185 . . . . . . . . . . . . . . . . . . . . . . . 0.002308 . . . . 2.V 0.0004 0.0024 0.0017 0.0038 5.798e-05 0.0039 0.0032 0.0044 0.0006 0.0011 0.0024 0 0 0 0.0034 0.0033 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0033 . . rs146617185 rs146617185 1 1538 10 1/0 0,255,255 +rs12051004 16 70883943 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70883943 70883943 Chr16(GRCh37):g.70883943G>A 12652-93 12652-93 NM_001270974.2:c.12652-93C>T p.? p.? 75 74 610812 -93 3' 83.8372 XI.96 0.975435 XI.65 83.8372 XI.96 0.975435 XI.65 0 Cryptic Acceptor Weakly Activated 70883936 6.65577 0.559128 81.1882 6.99361 0.671785 82.6988 70883940 -13.8503 rs12051004 no no 0 G 0.000000 0 transition C T C>T 0.701 0.367 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.3749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.37 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12051004 0.185 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . 0.18 rs12051004 rs12051004 rs12051004 rs12051004 1 1538 10 1/0 0,255,255 +rs1798314 16 70884524 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70884524 70884524 Chr16(GRCh37):g.70884524C>G 12478 12478 NM_001270974.2:c.12478G>C p.Glu4160Gln p.Glu4160Gln 74 610812 35 3' 83.0709 9.62018 0.622574 3.62193 83.0709 9.62018 0.622574 4.00191 0 rs1798314 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.992 3.111 E Glu GAA 0.417 Q Gln CAA 0.256 4160 12 7 Zebrafish 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 353.86 0.00 Tolerated 0.11 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon74:c.G12478C:p.E4160Q HYDIN:uc031qwy.1:exon74:c.G12478C:p.E4160Q HYDIN:NM_001270974:exon74:c.G12478C:p.E4160Q . . 0.4 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.667 . @ . . . . . 1 0.820 . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E4160Q|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.74) . . . . . . . 0.5524 0.545 0.552 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.557 @ . . . 0.49 0.53 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.336 . . . . T 0.333 0.014 . . 37 . 0.067 . . 0.543 . . . 0.589 0.271 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.542 . . 0 0 0 0 0 0 . 0.596 . . 0.685 . . . . . . 0 0.457 . . . . . 0.808 . 0.176 . HET 0 rs1798314 0.500 0.500 . . . . . . . . . . 16.0878 . . V.56 IV.57 . 0.480000 F8WD23 . . . . . 0.476 . . IV.57 . . . . . . . . . . . . . . . . . . . 0.223 . 2.615 2.615000 . . 0.480000 . . 1.0E-255 0.996 0.391 . 0.653 0.970 . 0.530 . 0.490 2.615 -0.064 0.5 rs1798314 rs1798314 rs1798314 rs1798314 1 1538 10 1/0 0,255,255 +rs2502698 16 70889147 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70889147 70889147 Chr16(GRCh37):g.70889147A>G 12327 12327 NM_001270974.2:c.12327T>C p.Ile4109= p.Ile4109Ile 73 610812 32 3' 91.4229 8.30564 0.947239 4.14051 91.4229 8.30564 0.947239 4.72575 0 rs2502698 no no 0 G 0.000000 0 0.000034 0.000000 0.000091 0.000000 0.000055 0.000033 0.000024 0.000000 0.000161 0.000091 9 0 3 0 1 1 3 0 1 264080 16788 32846 9754 18134 30520 124212 25610 6216 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 3 0 1 1 3 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 1.000 0.851 I Ile ATT 0.356 I Ile ATC 0.481 4109 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon73:c.T12327C:p.I4109I HYDIN:uc031qwy.1:exon73:c.T12327C:p.I4109I HYDIN:NM_001270974:exon73:c.T12327C:p.I4109I . . 0.47826087 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 138.0 . . SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I4109|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.73) . . . . . . . 1.1668 . . . . . . . . 1.635e-05 . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.6 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2502698 0.576 0.551 . . . . . . . . . . . . . . . . . . . . . . . . . . III.42 0 2.949e-05 9.355e-05 0 6.009e-05 0 9.102e-06 0.0002 3.277e-05 0 7.489e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.58 rs2502698 rs2502698 rs2502698 rs149306644 1 1538 10 1/0 0,245,255 +rs1774416 16 70891640 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70891640 70891640 Chr16(GRCh37):g.70891640T>C 12263 12263 NM_001270974.2:c.12263A>G p.Lys4088Arg p.Lys4088Arg 72 610812 -33 5' 82.3421 8.92377 0.988546 5.1278 82.3421 8.92377 0.988546 5.03179 0 New Acceptor Site 70891639 XI.03 0.956853 84.1748 rs1774416 yes no Frequency/HapMap 2 T 0.000000 0 transition A G A>G 0.890 0.609 K Lys AAG 0.575 R Arg AGG 0.207 4088 12 5 Dog 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 1 III.39 220 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon72:c.A12263G:p.K4088R HYDIN:uc031qwy.1:exon72:c.A12263G:p.K4088R HYDIN:NM_001270974:exon72:c.A12263G:p.K4088R . . 0.21238938 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.343 . @ . . . . . 1 0.177 . . 113.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K4088R|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.72) . . . . . . . -0.5626 -0.372 -0.563 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.194 @ . . . 0.41 0.57 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.219 . . . . T 0.276 0.011 . . 37 . 0.004 . . 0.507 . . . 0.188 0.206 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.027 . . 0 0 0 0 0 0 . 0.119 . . 0.104 . . . . . . 0 0.025 . . . . . 0.007 . 0.030 . HET 0.83 rs1774416 0.250 0.181 . . . . . . . . . . 0.5952 . . V.86 1.IX . 0.670000 F8WD23 . . . . . 0.256 . . . . . . . . . . . . . . . . . . . . . . 0.083 . 1.051 1.051000 . . 0.670000 . . 1.0E-220 0.931 0.321 . 0.697 0.081 . 0.412 . 0.762 1.051 -0.013 0.25 rs1774416 rs1774416 rs1774416 rs148896798 1 1538 10 1/0 0,231,255 +rs1774417 16 70891778 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution splice site GRCh37 70891778 70891778 Chr16(GRCh37):g.70891778C>G 12130-5 12130-5 NM_001270974.2:c.12130-5G>C p.? p.? 72 71 610812 -5 3' 74.7685 6.40131 0.796602 7.23659 77.6343 7.77297 0.955143 9.69603 0.150543 Cryptic Acceptor Strongly Activated 70891773 6.40131 0.796602 74.7685 7.77297 0.955143 77.6343 rs1774417 no no 0 G 0.000000 0 0.000015 0.000169 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000169 4 4 0 0 0 0 0 0 0 275820 23704 34334 10122 18782 30664 126052 25728 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.016 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.5168539 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 89.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.4808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.3 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774417 0.500 0.500 . . . . . . . . . . . . . . . . . . 0 0.008 . . . . . . . 0 0 0 0 0 0 0 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774417 rs1774417 rs1774417 rs143462331 1 1538 10 1/0 0,255,255 +rs11075798 16 70894024 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70894024 70894024 Chr16(GRCh37):g.70894024C>T 12076 12076 NM_001270974.2:c.12076G>A p.Ala4026Thr p.Ala4026Thr 71 610812 -54 5' 86.7716 9.81343 0.996592 4.61618 86.7716 9.81343 0.996592 4.73002 0 Cryptic Acceptor Strongly Activated 70894005 5.70729 0.426782 79.253 VI.29 0.511749 79.253 rs11075798 yes no Frequency/HapMap 2 C 0.000000 0 0.000067 0.000129 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000129 2 1 0 0 0 0 1 0 0 29644 7748 820 282 1622 0 14708 3494 970 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition G A G>A 0.969 1.093 A Ala GCA 0.226 T Thr ACA 0.280 4026 12 7 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Deleterious 0 III.53 233 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon71:c.G12076A:p.A4026T HYDIN:uc031qwy.1:exon71:c.G12076A:p.A4026T HYDIN:NM_001270974:exon71:c.G12076A:p.A4026T . . 0.25454545 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.573 . @ . . . . . 1 0.187 . . 55.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A4026T|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.71) . . . . . . . -0.2419 -0.119 -0.242 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.279 @ . . . 0.58 0.64 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.451 . . . . . . . Uncertain_significance . 0 . 0.326 . . . . T 0.456 0.023 . . 37 . 0.011 . . 0.617 . . . 0.459 0.290 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.285 . . 0.301 . . . . . . 0 0.024 . . . . . 0.311 . 0.261 . HET 0.37 rs11075798 0.207 0.159 . . . . . . . . . . VIII.87 . . V.51 II.34 . 0.480000 F8WD23 . . . . . 0.308 . . II.34 . . . . . . . . . 0.0001 6.747e-05 0 0 0 0 6.799e-05 0 . . 0.083 . 1.329 1.329000 . . 0.480000 . . 1.0000000000000001E-233 0.843 0.301 . 0.502 0.841 . 0.308 . 0.490 1.329 0.033 0.21 rs11075798 rs11075798 rs11075798 rs11075798 1 1538 10 1/0 0,255,255 +rs1539302 16 70894087 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70894087 70894087 Chr16(GRCh37):g.70894087T>C 12013 12013 NM_001270974.2:c.12013A>G p.Thr4005Ala p.Thr4005Ala 71 610812 23 3' 76.9805 6.00848 0.109219 5.88718 76.9805 6.00848 0.109219 6.02107 0 New Acceptor Site 70894086 2.33503 0.001721 69.0607 rs1539302 yes no Frequency 1 T 0.000000 0 0.000248 0.001139 0.000127 0.000103 0.000056 0.000000 0.000132 0.000608 0.000501 0.001139 65 25 4 1 1 0 16 15 3 261596 21942 31552 9688 17798 28854 121098 24678 5986 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 65 25 4 1 1 0 16 15 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.984 3.434 T Thr ACC 0.361 A Ala GCC 0.403 4005 12 8 Zebrafish 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0 III.39 251 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon71:c.A12013G:p.T4005A HYDIN:uc031qwy.1:exon71:c.A12013G:p.T4005A HYDIN:NM_001270974:exon71:c.A12013G:p.T4005A . . 0.31034482 . . @ 18 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.712 . @ . . . . . 1 0.908 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T4005A|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.71) . . . . . . . 0.7160 0.666 0.716 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.817 @ . . . 0.55 0.57 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.336 . . . . D 0.656 0.054 . . 37 . 0.143 . . 0.007 . . . 0.917 0.372 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.758 . . 0 0 0 0 0 0 . 0.764 . . 0.797 . . . . . . 0 0.393 . . . . . 0.732 . 0.584 . HET 0.11 rs1539302 0.370 0.406 . . . . . . . . . . 15.2594 . . V.51 V.51 . 0.120000 F8WD23 . . . . . 0.581 . . V.51 0 8.475e-06 3.236e-05 0 0 0 9.226e-06 0 0 0.0035 0.0025 0.0046 0.0039 0.0007 0.0058 0.0012 0.0038 . . 0.083 . 2.095 2.095000 . . 0.120000 . . 1.0E-251 1.000 0.715 . 0.517 0.678 . 0.724 . 0.807 2.095 0.991 0.37 rs1539302 rs1539302 rs1539302 rs149857179 1 1538 10 1/0 0,255,255 +rs1418287 16 70894123 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70894123 70894123 Chr16(GRCh37):g.70894123A>G 11991-14 11991-14 NM_001270974.2:c.11991-14T>C p.? p.? 71 70 610812 -14 3' 76.9805 6.00848 0.109219 5.88718 74.2077 6.37774 0.083326 5.89967 -0.0705464 rs1418287 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.5102041 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.37 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1418287 0.489 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.49 rs1418287 rs1418287 rs1418287 rs118164668 1 1538 10 1/0 0,255,255 +. 16 70896015 GA G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 deletion frameshift exon GRCh37 70896016 70896016 Chr16(GRCh37):g.70896016del 11712 11712 NM_001270974.2:c.11712del p.Gln3905Argfs*5 p.Gln3905Argfs*5 69 610812 -66 5' 73.6208 5.90023 0.585954 0 73.6208 5.90023 0.585954 0 0 rs11337008 yes no Frequency/1000G 2 A 0.000000 0 T 255 Pass . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon69:c.11712delT:p.I3904fs HYDIN:uc031qwy.1:exon69:c.11712delT:p.I3904fs HYDIN:NM_001270974:exon69:c.11712delT:p.I3904fs . . 0.45454547 . . . 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 132 . . FRAME_SHIFT(HIGH||||HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.69) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs565285670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11337008 rs11337008 rs11337008 rs11337008 1 1538 10 1.I 0,12,34 +rs1626593 16 70896033 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70896033 70896033 Chr16(GRCh37):g.70896033C>T 11695 11695 NM_001270974.2:c.11695G>A p.Val3899Met p.Val3899Met 69 610812 -83 5' 73.6208 5.90023 0.585954 0 73.6208 5.90023 0.585954 0 0 rs1626593 yes no Frequency/HapMap 2 C 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 0.000065 2 0 0 0 0 2 0 0 0 245252 15240 33504 9818 17164 30686 111174 22218 5448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition G A G>A 0.882 1.335 V Val GTG 0.468 M Met ATG 1.000 3899 12 5 Dog 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0.01 III.39 230 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon69:c.G11695A:p.V3899M HYDIN:uc031qwy.1:exon69:c.G11695A:p.V3899M HYDIN:NM_001270974:exon69:c.G11695A:p.V3899M . . 0.24409449 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.570 . @ . . . . . 1 0.843 . . 127.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V3899M|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.69) . . . . . . . 0.3197 0.215 0.320 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.433 @ . . . 0.54 0.61 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.167 . . . . T 0.476 0.024 . . 37 . 0.046 . . 0.135 . . . 0.710 0.263 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.490 . . 0 0 0 0 0 0 . 0.764 . . 0.719 . . . . . . 0 0.632 . . . . . 0.131 . 0.525 . HET 0.01 rs1626593 0.217 0.167 . . . . . . . . . . IV.17 . . V.97 III.84 . 0.010000 F8WD23 . . . . . 0.257 . . III.84 0 8.155e-06 0 0 0 0 0 0 6.518e-05 . . . . . . . . . . 0.455 . 1.541 1.541000 . . 0.010000 . . 1.0E-230 0.975 0.345 . 0.202 0.004 . 0.407 . 0.490 1.541 0.033 0.22 rs1626593 rs1626593 rs1626593 rs1626593 1 1538 10 1/0 0,230,255 +rs1798324 16 70896975 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70896975 70896975 Chr16(GRCh37):g.70896975C>T 11569+13 11569+13 NM_001270974.2:c.11569+13G>A p.? p.? 68 68 610812 13 5' 87.5418 8.88433 0.987302 3.58121 87.5418 8.88433 0.987302 3.07628 0 rs1798324 no no 0 T 0.000000 0 transition G A G>A 0.000 -2.216 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.3256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.63 0.36 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798324 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798324 rs1798324 rs1798324 rs144572080 1 1538 10 1/0 0,255,255 +rs1798325 16 70897039 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70897039 70897039 Chr16(GRCh37):g.70897039C>G 11518 11518 NM_001270974.2:c.11518G>C p.Val3840Leu p.Val3840Leu 68 610812 47 3' 84.7239 7.89768 0.890353 2.81682 84.7239 7.89768 0.890353 II.82 0 rs1798325 no no 0 C 0.000000 0 transversion G C G>C 0.000 -1.005 V Val GTC 0.240 L Leu CTC 0.197 3840 12 3 Dog 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.57 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon68:c.G11518C:p.V3840L HYDIN:uc031qwy.1:exon68:c.G11518C:p.V3840L HYDIN:NM_001270974:exon68:c.G11518C:p.V3840L . . 0.44186047 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.222 . @ . . . . . 1 0.124 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ctc|V3840L|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.68) . . . . . . . -1.4283 -1.448 -1.428 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.020 @ . . . 0.57 0.61 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.073 . . . . T 0.234 0.009 . . 37 . 0.007 . . 0.483 . . . 0.188 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.147 . . 0.223 . . . . . . 0 0.119 . . . . . 0.350 . 0.260 . HET 0 rs1798325 0.500 0.500 . . . . . . . . . . 8.987 . . V.36 -6.0 . 0.660000 F8WD23 . . . . . 0.074 . . . . . . . . . . . . . . . . . . . . . . 0.348 . -0.633 -0.633000 . . 0.660000 . . 1.0E-255 0.001 0.137 . 0.523 0.991 . 0.066 . 0.062 -0.633 0.008 0.5 rs1798325 rs1798325 rs1798325 rs148443835 1 1538 10 1/0 0,255,255 +rs2001936 16 70900048 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70900048 70900048 Chr16(GRCh37):g.70900048A>G 11471+24 11471+24 NM_001270974.2:c.11471+24T>C p.? p.? 67 67 610812 24 5' 70.4128 6.51426 0.590017 0 70.4128 6.51426 0.590017 0 0 rs2001936 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.000 1.255 255 PASS . . . . . . . . . . . . . . . . 0.5308642 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.1102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.58 0.49 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2001936 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . II.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs2001936 rs2001936 rs2001936 rs143115517 1 1538 10 1/0 0,255,255 +rs1798413 16 70902559 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70902559 70902559 Chr16(GRCh37):g.70902559C>T 11224 11224 NM_001270974.2:c.11224G>A p.Val3742Ile p.Val3742Ile 66 610812 -87 5' 87.5573 9.72159 0.992731 X.16 87.5573 9.72159 0.992731 X.16 0 rs1798413 no no 0 C 0.000000 0 transition G A G>A 1.000 1.335 V Val GTC 0.240 I Ile ATC 0.481 3742 12 8 Zebrafish 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon66:c.G11224A:p.V3742I HYDIN:uc031qwy.1:exon66:c.G11224A:p.V3742I HYDIN:NM_001270974:exon66:c.G11224A:p.V3742I . . 0.44186047 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.628 . @ . . . . . 1 0.468 . . 129.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V3742I|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.66) . . . . . . . -0.1107 -0.057 -0.111 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.255 @ . . . 0.45 0.27 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.414 . . . . . . . Uncertain_significance . 0 . 0.299 . . . . T 0.399 0.018 . . 37 . 0.013 . . 0.635 . . . 0.447 0.278 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.181 . . 0 0 0 0 0 0 . 0.347 . . 0.277 . . . . . . 0 0.381 . . . . . 0.364 . 0.054 . HET 0.17 rs1798413 0.500 0.500 . . . . . . . . . . IX.11 . . 5.III 2.II . 0.170000 F8WD23 . . . . . 0.413 . . 2.II . . . . . . . . . . . . . . . . . . . 0.083 . 0.529 0.529000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.498 0.996 . 0.346 . 0.362 0.529 0.871 0.5 rs1798413 rs1798413 rs1798413 rs1798413 1 1538 10 1/0 0,242,255 +rs1774504 16 70902568 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70902568 70902568 Chr16(GRCh37):g.70902568C>T 11215 11215 NM_001270974.2:c.11215G>A p.Ala3739Thr p.Ala3739Thr 66 610812 -96 5' 87.5573 9.72159 0.992731 X.16 87.5573 9.72159 0.992731 X.16 0 rs1774504 no no 0 C 0.000000 0 transition G A G>A 0.945 1.174 A Ala GCA 0.226 T Thr ACA 0.280 3739 12 4 Chicken 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.3 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon66:c.G11215A:p.A3739T HYDIN:uc031qwy.1:exon66:c.G11215A:p.A3739T HYDIN:NM_001270974:exon66:c.G11215A:p.A3739T . . 0.47142857 . . @ 66 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.574 . @ . . . . . 1 0.499 . . 140.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A3739T|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.66) . . . . . . . -0.5030 -0.462 -0.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.338 @ . . . 0.47 0.31 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.422 . . . . . . . Uncertain_significance . 0 . 0.195 . . . . T 0.239 0.009 . . 37 . 0.013 . . 0.550 . . . 0.552 0.194 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.274 . . 0.244 . . . . . . 0 0.084 . . . . . 0.239 . 0.089 . HET 0.15 rs1774504 0.500 0.500 . . . . . . . . . . 7.0187 . . 5.III 3.II . 0.540000 F8WD23 . . . . . 0.200 . . 3.II . . . . . . . . . . . . . . . . . . . 0.083 . 0.490 0.490000 . . 0.540000 . . 1.0E-255 0.018 0.193 . 0.587 0.999 . 0.204 . 0.362 0.490 0.871 0.5 rs1774504 rs1774504 rs1774504 rs1774504 1 1538 10 1/0 0,242,255 +rs2502690 16 70902683 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70902683 70902683 Chr16(GRCh37):g.70902683G>A 11100 11100 NM_001270974.2:c.11100C>T p.His3700= p.His3700His 66 610812 9 3' 0 1.62524 0.887946 0 0 1.62524 0.865886 0 -0.0124219 rs2502690 yes no Frequency 1 G 0.000000 0 0.000098 0.001042 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001042 27 25 2 0 0 0 0 0 0 276216 23982 34334 10132 18810 30678 126126 25732 6422 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 25 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.690 H His CAC 0.587 H His CAT 0.413 3700 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon66:c.C11100T:p.H3700H HYDIN:uc031qwy.1:exon66:c.C11100T:p.H3700H HYDIN:NM_001270974:exon66:c.C11100T:p.H3700H . . 0.47328246 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H3700|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.66) . . . . . . . 1.1222 . . . . . . . . 6.388e-05 . . . 0.0007 8.409e-05 0 0 0 0 0 0 0.0009 7.232e-05 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.31 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2502690 0.457 0.464 . . . . . . . . . . . . . . . . . . . . . . . . . . II.55 0.0012 8.155e-05 5.971e-05 0 0 0 0 0 0 0.0008 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs2502690 rs2502690 rs2502690 rs117238714 1 1538 10 1/0 0,250,255 +. 16 70905912 CA C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 deletion intron GRCh37 70905913 70905913 Chr16(GRCh37):g.70905913del 11091+27 11091+27 NM_001270974.2:c.11091+27del p.? p.? 65 65 610812 27 5' 87.8485 8.76378 0.995082 5.98478 87.8485 8.76378 0.995082 5.91653 0 Cryptic Acceptor Weakly Activated 70905900 4.34811 0.15834 66.6207 4.62402 0.331011 66.6207 rs67973650 no no 0 A 0.000000 0 T 255 Pass . . . . . . . . . . . . . . . . 0.49107143 . . . 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140651943 0.174 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.17 . rs67973650 rs67973650 rs140651943 1 1538 10 1.I 0,12,31 +rs1774311 16 70908239 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70908239 70908239 Chr16(GRCh37):g.70908239G>A 10917 10917 NM_001270974.2:c.10917C>T p.Ile3639= p.Ile3639Ile 64 610812 -32 5' 80.2281 6.70762 0.280558 0 80.2281 6.70762 0.280558 0 0 rs1774311 yes no Frequency 1 G 0.000000 0 transition C T C>T 0.000 -2.861 I Ile ATC 0.481 I Ile ATT 0.356 3639 224 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon64:c.C10917T:p.I3639I HYDIN:uc031qwy.1:exon64:c.C10917T:p.I3639I HYDIN:NM_001270974:exon64:c.C10917T:p.I3639I . . 0.22857143 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 35.0 . . SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I3639|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.64) . . . . . . . -0.5884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.41 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774311 0.315 0.246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . 0.32 rs1774311 rs1774311 rs1774311 rs146091852 1 1538 10 1/0 0,255,255 +rs1354549 16 70908684 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70908684 70908684 Chr16(GRCh37):g.70908684T>C 10660+36 10660+36 NM_001270974.2:c.10660+36A>G p.? p.? 63 63 610812 36 5' 99.6933 X.84 0.998453 11.1858 99.6933 X.84 0.998453 XI.02 0 rs1354549 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.57009345 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.1163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.54 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1354549 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1354549 rs1354549 rs1354549 rs1354549 1 1538 10 1/0 0,255,255 +rs1354550 16 70908736 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70908736 70908736 Chr16(GRCh37):g.70908736A>G 10644 10644 NM_001270974.2:c.10644T>C p.Asn3548= p.Asn3548Asn 63 610812 -17 5' 99.6933 X.84 0.998453 11.1858 99.6933 X.84 0.998453 XI.91 0 rs1354550 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.984 0.448 N Asn AAT 0.464 N Asn AAC 0.536 3548 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon63:c.T10644C:p.N3548N HYDIN:uc031qwy.1:exon63:c.T10644C:p.N3548N HYDIN:NM_001270974:exon63:c.T10644C:p.N3548N . . 0.5344828 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N3548|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.63) . . . . . . . 0.8623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.42 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1354550 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . II.69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1354550 rs1354550 rs1354550 rs1354550 1 1538 10 1/0 0,255,255 +rs1774323 16 70913386 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70913386 70913386 Chr16(GRCh37):g.70913386G>A 10371 10371 NM_001270974.2:c.10371C>T p.Thr3457= p.Thr3457Thr 62 610812 4 3' 81.3577 9.56491 0.981982 X.29 81.3577 9.56491 0.982672 X.23 0.00023422 rs1774323 no no 0 G 0.000000 0 transition C T C>T 0.000 0.125 T Thr ACC 0.361 T Thr ACT 0.243 3457 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon62:c.C10371T:p.T3457T HYDIN:uc031qwy.1:exon62:c.C10371T:p.T3457T HYDIN:NM_001270974:exon62:c.C10371T:p.T3457T . . 0.44041452 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 193.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T3457|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.62) . . . . . . . 0.3988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.36 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774323 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774323 rs1774323 rs1774323 rs117309677 1 1538 10 1/0 0,226,251 +rs1774325 16 70913501 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70913501 70913501 Chr16(GRCh37):g.70913501T>C 10367+7 10367+7 NM_001270974.2:c.10367+7A>G p.? p.? 61 61 610812 7 5' 71.1898 7.87896 0.935293 6.41578 71.1898 7.87896 0.936232 6.53232 0.000334654 rs1774325 no no 0 C 0.000000 0 transition A G A>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.45945945 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.63 0.51 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774325 0.500 0.500 . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774325 rs1774325 rs1774325 rs139648851 1 1538 10 1/0 0,223,246 +rs7190934 16 70916816 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70916816 70916816 Chr16(GRCh37):g.70916816G>A 9980-18 9980-18 NM_001270974.2:c.9980-18C>T p.? p.? 60 59 610812 -18 3' 79.6089 8.07607 0.8913 7.17662 79.6089 8.00627 0.855762 7.23854 -0.0161714 rs7190934 no no 0 G 0.000000 0 transition C T C>T 0.102 1.416 204 PASS . . . . . . . . . . . . . . . . 0.16911764 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.3800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.45 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7190934 0.293 0.341 . . . . . . . . . . . . . . . . . . . . . . . . . . II.43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . 0.29 rs7190934 rs7190934 rs7190934 rs7190934 1 1538 10 1/0 0,219,255 +rs1798435 16 70916819 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70916819 70916819 Chr16(GRCh37):g.70916819C>T 9980-21 9980-21 NM_001270974.2:c.9980-21G>A p.? p.? 60 59 610812 -21 3' 79.6089 8.07607 0.8913 7.17662 79.6089 8.07607 0.884462 6.54534 -0.00255731 rs1798435 yes no Frequency/HapMap 2 T 0.000000 0 transition G A G>A 0.000 -2.619 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 130.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.5537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.4 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798435 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798435 rs1798435 rs1798435 rs1798435 1 1538 10 1/0 0,254,255 +rs1774329 16 70916849 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70916849 70916849 Chr16(GRCh37):g.70916849A>G 9980-51 9980-51 NM_001270974.2:c.9980-51T>C p.? p.? 60 59 610812 -51 3' 79.6089 8.07607 0.8913 7.17662 79.6089 8.07607 0.8913 6.71139 0 rs1774329 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.000 -2.539 255 PASS . . . . . . . . . . . . . . . . 0.5233645 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.6931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.43 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774329 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774329 rs1774329 rs1774329 rs1774329 1 1538 10 1/0 0,255,255 +rs1774331 16 70917855 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70917855 70917855 Chr16(GRCh37):g.70917855A>G 9947 9947 NM_001270974.2:c.9947T>C p.Leu3316Pro p.Leu3316Pro 59 610812 -33 5' 71.8032 9.04236 0.82493 5.30642 71.8032 9.04236 0.82493 5.32282 0 rs1774331 yes no Frequency 1 G 0.000000 0 transition T C T>C 0.976 1.174 L Leu CTT 0.129 P Pro CCT 0.283 3316 12 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon59:c.T9947C:p.L3316P HYDIN:uc031qwy.1:exon59:c.T9947C:p.L3316P HYDIN:NM_001270974:exon59:c.T9947C:p.L3316P . . 0.45876288 . . @ 89 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.001 . . 194.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L3316P|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.59) . . . . . . . -1.0146 -0.755 -1.015 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.452 @ . . . 0.64 0.45 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.328 . . . . T 0.342 0.014 . . 37 . 0.003 . . 0.359 . . . 0.000 0.422 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.271 . 0.059 . HET 0.35 rs1774331 0.500 0.500 . . . . . . . . . . VII.32 . . 5.I III.98 . 1.000000 F8WD23 . . . . . 0.123 . . III.98 . . . . . . . . . . . . . . . . . . . 0.498 . 1.123 1.123000 . . 1.000000 . . 1.0E-255 0.999 0.424 . 0.276 0.869 . 0.477 . 0.222 1.123 -0.597 0.5 rs1774331 rs1774331 rs1774331 rs138915898 1 1538 10 1/0 0,226,243 +rs1798440 16 70917931 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70917931 70917931 Chr16(GRCh37):g.70917931C>G 9871 9871 NM_001270974.2:c.9871G>C p.Ala3291Pro p.Ala3291Pro 59 610812 97 3' 89.1802 X.43 0.958713 13.1756 89.1802 X.43 0.958713 13.1756 0 rs1798440 yes no Frequency 1 G 0.000000 0 transversion G C G>C 0.969 2.142 A Ala GCC 0.403 P Pro CCC 0.328 3291 12 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon59:c.G9871C:p.A3291P HYDIN:uc031qwy.1:exon59:c.G9871C:p.A3291P HYDIN:NM_001270974:exon59:c.G9871C:p.A3291P . . 0.472103 . . @ 110 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.304 . @ . . . . . 1 0.029 . . 233.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A3291P|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.59) . . . . . . . -0.7135 -0.436 -0.713 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.663 @ . . . 0.66 0.5 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.328 . . . . D 0.529 0.030 . . 37 . 0.005 . . 0.646 . . . 0.001 0.218 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 0 0.010 . . . . . 0.729 . 0.103 . HET 0.3 rs1798440 0.500 0.500 . . . . . . . . . . 15.2207 . . 5.I 5.I . 0.410000 F8WD23 . . . . . 0.078 . . 5.I . . . . . . . . . . . . . . . . . . . 0.348 . 1.122 1.122000 . . 0.410000 . . 1.0E-255 1.000 0.715 . 0.458 0.060 . 0.404 . 0.221 1.122 0.028 0.5 rs1798440 rs1798440 rs1798440 rs142251979 1 1538 10 1/0 0,222,244 +rs1774423 16 70926334 G C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70926334 70926334 Chr16(GRCh37):g.70926334G>C 9347 9347 NM_001270974.2:c.9347C>G p.Thr3116Arg p.Thr3116Arg 56 610812 -71 5' 94.6711 X.63 0.992583 6.99452 94.6711 X.63 0.992583 6.78301 0 rs1774423 yes no Frequency/HapMap 2 G 0.000000 0 transversion C G C>G 0.961 2.223 T Thr ACA 0.280 R Arg AGA 0.205 3116 12 7 Zebrafish -1 -1 -2 0.71 0.65 8.VI 10.V 61 124 71 C0 353.86 0.00 Deleterious 0.01 III.39 220 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon56:c.C9347G:p.T3116R HYDIN:uc031qwy.1:exon56:c.C9347G:p.T3116R HYDIN:NM_001270974:exon56:c.C9347G:p.T3116R . . 0.21428572 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.671 . @ . . . . . 1 0.372 . . 126.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T3116R|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.56) . . . . . . . 0.0948 0.117 0.095 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.625 @ . . . 0.53 0.37 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.140 . . . . D 0.695 0.065 . . 37 . 0.019 . . 0.640 . . . 0.805 0.325 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.663 . . 0 0 0 0 0 0 . 0.399 . . 0.405 . . . . . . 0 0.654 . . . . . 0.453 . 0.621 . HET 0.78 rs1774423 0.315 0.254 . . . . . . . . . . X.74 . . IV.86 IV.86 . 0.540000 F8WD23 . . . . . 0.520 . . IV.86 . . . . . . . . . . . . . . . . . . . 0.331 . 2.248 2.248000 . . 0.540000 . . 1.0E-220 0.990 0.367 . 0.322 0.604 . 0.404 . 0.613 2.248 0.917 0.32 rs1774423 rs1774423 rs1774423 rs142759816 1 1538 10 1/0 0,226,255 +rs1798454 16 70926445 A T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70926445 70926445 Chr16(GRCh37):g.70926445A>T 9249-13 9249-13 NM_001270974.2:c.9249-13T>A p.? p.? 56 55 610812 -13 3' 91.3568 10.564 0.986968 7.52037 88.2978 8.94156 0.96437 5.22119 -0.0699886 rs1798454 no no 0 A 0.000000 0 0.000296 0.000404 0.000124 0.000106 0.000112 0.000104 0.000444 0.000162 0.000167 0.000444 77 9 4 1 2 3 53 4 1 260392 22288 32172 9460 17782 28784 119264 24666 5976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 9 4 1 2 3 53 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.087 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.55932206 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.3964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.28 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798454 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.505e-05 0.0001 0 6.058e-05 0.0001 1.847e-05 0 0.0001 0.0012 0.0026 0 0.0045 0.0008 0.0003 0.0046 0.0013 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798454 rs1798454 rs1798454 rs117197810 1 1538 10 1/0 0,255,255 +rs1774433 16 70928314 G C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70928314 70928314 Chr16(GRCh37):g.70928314G>C 9248+38 9248+38 NM_001270974.2:c.9248+38C>G p.? p.? 55 55 610812 38 5' 87.304 VIII.64 0.907768 3.86778 87.304 VIII.64 0.907768 4.00459 0 rs1774433 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 0.286 225 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.39 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774433 0.217 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . 0.22 rs1774433 rs1774433 rs75018720 rs75018720 1 1538 10 1/0 0,219,255 +rs1774439 16 70930002 G T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70930002 70930002 Chr16(GRCh37):g.70930002G>T 9049-19 9049-19 NM_001270974.2:c.9049-19C>A p.? p.? 54 53 610812 -19 3' 89.1947 XI.73 0.980102 9.41574 89.1947 10.1311 0.976473 8.40471 -0.0478252 Cryptic Acceptor Strongly Activated 70930003 1.72357 0.066715 80.1127 2.20411 0.074605 80.1127 rs1774439 yes no Frequency 1 T 0.000000 0 transversion C A C>A 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.52380955 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.0117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.35 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774439 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774439 rs1774439 rs1774439 rs146865292 1 1538 10 1/0 0,255,255 +rs2502696 16 70934994 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70934994 70934994 Chr16(GRCh37):g.70934994C>T 8961 8961 NM_001270974.2:c.8961G>A p.Gly2987= p.Gly2987Gly 53 610812 -88 5' 87.5642 8.40856 0.77825 4.24363 87.5642 8.40856 0.77825 4.24363 0 PapD-like rs2502696 yes no Frequency/HapMap 2 C 0.000000 0 transition G A G>A 0.024 -1.005 G Gly GGG 0.250 G Gly GGA 0.246 2987 214 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon53:c.G8961A:p.G2987G HYDIN:uc031qwy.1:exon53:c.G8961A:p.G2987G HYDIN:NM_001270974:exon53:c.G8961A:p.G2987G . . 0.19607843 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 153.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G2987|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.53) . . . . . . . 0.0249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.28 0.24 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2502696 0.152 0.123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . 0.15 rs2502696 rs2502696 rs2502696 rs2502696 1 1538 10 1/0 0,216,255 +rs1774449 16 70942688 A C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70942688 70942688 Chr16(GRCh37):g.70942688A>C 8081 8081 NM_001270974.2:c.8081T>G p.Ile2694Ser p.Ile2694Ser 48 610812 77 3' 81.0546 5.009 0.141893 2.19338 81.0546 5.009 0.141893 2.25818 0 rs1774449 no no 0 G 0.000000 0 transversion T G T>G 0.000 -0.037 I Ile ATT 0.356 S Ser AGT 0.149 2694 12 1 -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 353.86 0.00 Tolerated 0.52 III.53 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon48:c.T8081G:p.I2694S HYDIN:uc031qwy.1:exon48:c.T8081G:p.I2694S HYDIN:NM_001270974:exon48:c.T8081G:p.I2694S . . 0.5546219 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.019 . . 119.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aGt|I2694S|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.48) . . . . . . . -1.4802 -1.405 -1.480 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.194 @ . . . 0.39 0.31 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.411 . . . . . . . Uncertain_significance . 0 . 0.138 . . . . T 0.147 0.006 . . 37 . 0.004 . . 0.429 . . . 0.009 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.027 . . . . . 0.016 . 0.019 . HET 0.01 rs1774449 0.500 0.500 . . . . . . . . . . 1.1031 . . V.49 1.VIII . 0.830000 F8WD23 . . . . . 0.094 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.033 0.033000 . . 0.830000 . . 1.0E-255 0.034 0.205 . 0.142 0.002 . 0.263 . 0.033 0.033 -0.597 0.5 rs1774449 rs1774449 rs1774449 rs147775902 1 1538 10 1/0 0,255,255 +rs1774395 16 70954513 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954513 70954513 Chr16(GRCh37):g.70954513T>C 7766 7766 NM_001270974.2:c.7766A>G p.Lys2589Arg p.Lys2589Arg 46 610812 -20 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 9.21273 0 rs1774395 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 -1.651 K Lys AAG 0.575 R Arg AGG 0.207 2589 12 7 Zebrafish 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 0.17 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.A7766G:p.K2589R HYDIN:uc031qwy.1:exon46:c.A7766G:p.K2589R HYDIN:NM_001270974:exon46:c.A7766G:p.K2589R . . 0.43243244 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.082 . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K2589R|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -1.7107 -1.785 -1.711 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.005 @ . . . 0.38 0.4 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.136 . . . . T 0.370 0.016 . . 37 . 0.007 . . 0.474 . . . 0.112 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.080 . . . . . 0.998 . 0.035 . HET 0.71 rs1774395 0.500 0.500 . . . . . . . . . . 20.8756 . . V.89 -9.55 . 0.600000 F8WD23 . . . . . 0.048 . . . . . . . . . . . . . . . . . . . . . . 0.283 . -1.765 -1.765000 . . 0.600000 . . 1.0E-255 0.065 0.217 . 0.172 0.410 . 0.035 . 0.027 -1.765 -0.243 0.5 rs1774395 rs1774395 rs1774395 rs1774395 1 1538 10 1/0 0,250,255 +rs8044001 16 70954571 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954571 70954571 Chr16(GRCh37):g.70954571C>T 7708 7708 NM_001270974.2:c.7708G>A p.Asp2570Asn p.Asp2570Asn 46 610812 -78 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 9.26483 0 Cryptic Acceptor Strongly Activated 70954562 0.020649 5.23315 0.009949 75.7118 rs8044001 yes no Frequency 1 T 0.000000 0 transition G A G>A 0.283 0.851 D Asp GAC 0.539 N Asn AAC 0.536 2570 12 2 Chicken 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.G7708A:p.D2570N HYDIN:uc031qwy.1:exon46:c.G7708A:p.D2570N HYDIN:NM_001270974:exon46:c.G7708A:p.D2570N . . 0.38235295 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.204 . @ . . . . . 1 0.025 . . 136.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2570N|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -1.0222 -0.783 -1.022 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.397 @ . . . 0.46 0.34 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.221 . . . . T 0.195 0.007 . . 37 . 0.003 . . 0.420 . . . 0.003 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.024 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.069 . . . . . 0.061 . 0.014 . HET 0.2 rs8044001 . . . . . . . . . . . . 3.1686 . . V.89 III.56 . 0.510000 F8WD23 . . . . . 0.141 . . III.56 . . . . . . . . . . . . . . . . . . . 0.283 . 0.485 0.485000 . . 0.510000 . . 1.0E-255 0.763 0.290 . 0.292 0.015 . 0.336 . 0.240 0.485 -0.328 . rs8044001 rs8044001 rs8044001 rs8044001 1 1538 10 1/0 0,238,255 +rs8045289 16 70954572 T A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70954572 70954572 Chr16(GRCh37):g.70954572T>A 7707 7707 NM_001270974.2:c.7707A>T p.Leu2569= p.Leu2569Leu 46 610812 -79 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 9.49385 0 Cryptic Acceptor Strongly Activated 70954562 0.020649 5.26604 0.235209 81.9895 rs8045289 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.213 -0.521 L Leu CTA 0.070 L Leu CTT 0.129 2569 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.A7707T:p.L2569L HYDIN:uc031qwy.1:exon46:c.A7707T:p.L2569L HYDIN:NM_001270974:exon46:c.A7707T:p.L2569L . . 0.38059703 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 134.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctA/ctT|L2569|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . 0.3652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.34 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs8045289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs8045289 rs8045289 rs8045289 rs8045289 1 1538 10 1/0 0,239,255 +rs8044142 16 70954606 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954606 70954606 Chr16(GRCh37):g.70954606C>T 7673 7673 NM_001270974.2:c.7673G>A p.Gly2558Glu p.Gly2558Glu 46 610812 -113 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 IX.06 0 rs8044142 yes no Frequency/HapMap 2 C 0.000000 0 transition G A G>A 0.992 1.174 G Gly GGG 0.250 E Glu GAG 0.583 2558 12 2 Northern white-cheeked gibbon -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 0.87 III.53 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.G7673A:p.G2558E HYDIN:uc031qwy.1:exon46:c.G7673A:p.G2558E HYDIN:NM_001270974:exon46:c.G7673A:p.G2558E . . 0.38655463 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.231 . @ . . . . . 1 0.315 . . 119.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G2558E|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -0.3051 -0.302 -0.305 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.441 @ . . . 0.39 0.31 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.147 . . . . T 0.422 0.020 . . 37 . 0.017 . . 0.597 . . . 0.597 0.285 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.249 . . 0 0 0 0 0 0 . 0.715 . . 0.679 . . . . . . 0 0.030 . . . . . 0.583 . 0.644 . HET 0 rs8044142 0.500 0.500 . . . . . . . . . . 13.0706 . . V.89 3.IX . 1.000000 F8WD23 . . . . . 0.286 . . 3.IX . . . . . . . . . . . . . . . . . . . 0.083 . 0.801 0.801000 . . 1.000000 . . 1.0E-255 0.900 0.312 . 0.223 0.958 . 0.391 . 0.159 0.801 0.871 0.5 rs8044142 rs8044142 rs8044142 rs74249268 1 1538 10 1/0 0,244,255 +rs1798528 16 70954691 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954691 70954691 Chr16(GRCh37):g.70954691T>C 7588 7588 NM_001270974.2:c.7588A>G p.Lys2530Glu p.Lys2530Glu 46 610812 -198 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 IX.06 0 rs1798528 no no 0 T 0.000000 0 transition A G A>G 0.992 0.448 K Lys AAG 0.575 E Glu GAG 0.583 2530 12 6 Zebrafish 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Deleterious 0.02 III.39 226 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.A7588G:p.K2530E HYDIN:uc031qwy.1:exon46:c.A7588G:p.K2530E HYDIN:NM_001270974:exon46:c.A7588G:p.K2530E . . 0.23188406 . . @ 16 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.347 . @ . . . . . 1 0.563 . . 69.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K2530E|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -0.1105 -0.018 -0.111 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.400 @ . . . 0.45 0.4 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.363 0.015 . . 37 . 0.011 . . 0.731 . . . 0.488 0.211 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.373 . . 0 0 0 0 0 0 . 0.458 . . 0.413 . . . . . . 0 0.094 . . . . . 0.502 . 0.313 . HET 0.17 rs1798528 0.152 0.130 . . . . . . . . . . XI.78 . . V.89 III.58 . 0.600000 F8WD23 . . . . . 0.378 . . III.58 . . . . . . . . . . . . . . . . . . . 0.083 . 0.445 0.445000 . . 0.600000 . . 1.0000000000000001E-226 1.000 0.715 . 0.625 1.000 . 0.370 . 0.807 0.445 0.991 0.15 rs1798528 rs1798528 rs1798528 rs1798528 1 1538 10 1/0 0,253,255 +. 16 70954703 GGCGCTCCTTCTCCGT G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 deletion in-frame exon GRCh37 70954704 70954718 Chr16(GRCh37):g.70954704_70954718del 7561 7575 NM_001270974.2:c.7561_7575del p.Thr2521_Arg2525del p.Thr2521_Arg2525del 46 610812 -211 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 IX.06 0 rs67115747 yes no Frequency/1000G 2 0.000000 0 ACGGAGAAGGAGCGC 255 Pass . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.7561_7575del:p.2521_2525del HYDIN:uc031qwy.1:exon46:c.7561_7575del:p.2521_2525del HYDIN:NM_001270974:exon46:c.7561_7575del:p.2521_2525del . . 0.3857143 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 70 . . CODON_DELETION(MODERATE||acggagaaggagcgc/-|TEKER2521-|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375727122 0.163 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . rs67115747 rs67115747 1 1538 10 1.I 0,12,41 +rs1798529 16 70954774 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954774 70954774 Chr16(GRCh37):g.70954774A>G 7505 7505 NM_001270974.2:c.7505T>C p.Leu2502Ser p.Leu2502Ser 46 610812 -281 5' 84.8076 9.98517 0.977785 IX.06 84.8076 9.98517 0.977785 IX.06 0 Cryptic Donor Strongly Activated 70954772 2.89397 0.020538 66.6896 5.01476 0.033428 70.8177 rs1798529 yes no Frequency/1000G 2 G 0.000000 0 transition T C T>C 0.551 2.465 L Leu TTG 0.127 S Ser TCG 0.056 2502 12 1 -3 -2 -4 0 I.42 4.IX 9.II 111 32 145 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.T7505C:p.L2502S HYDIN:uc031qwy.1:exon46:c.T7505C:p.L2502S HYDIN:NM_001270974:exon46:c.T7505C:p.L2502S . . 0.5232558 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.156 . @ . . . . . 1 0.105 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tCg|L2502S|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -0.8708 -0.641 -0.871 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.947 @ . . . 0.47 0.45 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.085 . . . . T 0.296 0.012 . . 37 . 0.005 . . 0.339 . . . 0.001 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.025 . . . . . 0.594 . 0.048 . HET 0 rs1798529 0.500 0.493 . . . . . . . . . . 13.2697 . . V.89 V.89 . 1.000000 F8WD23 . . . . . 0.051 . . V.89 . . . . . . . . . . . . . . . . . . . 0.083 . 1.514 1.514000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.074 0.061 . 0.665 . 0.222 1.514 0.024 0.5 rs1798529 rs1798529 rs1798529 rs1798529 1 1538 10 1/0 0,255,255 +rs1798530 16 70954809 C A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70954809 70954809 Chr16(GRCh37):g.70954809C>A 7470 7470 NM_001270974.2:c.7470G>T p.Ala2490= p.Ala2490Ala 46 610812 312 3' 80.1914 X.73 0.942928 X.22 80.1914 X.73 0.942928 X.22 0 rs1798530 yes no Frequency/1000G 2 C 0.000000 0 transversion G T G>T 0.000 -0.037 A Ala GCG 0.107 A Ala GCT 0.263 2490 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.G7470T:p.A2490A HYDIN:uc031qwy.1:exon46:c.G7470T:p.A2490A HYDIN:NM_001270974:exon46:c.G7470T:p.A2490A . . 0.425 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 120.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcT|A2490|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . 0.3321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.31 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798530 0.424 0.449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.42 rs1798530 rs1798530 rs1798530 rs1798530 1 1538 10 1/0 0,247,255 +rs1798532 16 70954945 T A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70954945 70954945 Chr16(GRCh37):g.70954945T>A 7334 7334 NM_001270974.2:c.7334A>T p.Asn2445Ile p.Asn2445Ile 46 610812 176 3' 80.1914 X.73 0.942928 X.22 80.1914 X.73 0.942928 X.22 0 rs1798532 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 1.093 N Asn AAC 0.536 I Ile ATC 0.481 2445 12 1 -2 -3 -6 I.33 0 11.VI 5.II 56 111 149 C0 353.86 0.00 Tolerated 0.87 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon46:c.A7334T:p.N2445I HYDIN:uc031qwy.1:exon46:c.A7334T:p.N2445I HYDIN:NM_001270974:exon46:c.A7334T:p.N2445I . . 0.46721312 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.198 . @ . . . . . 1 0.053 . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aTc|N2445I|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.46) . . . . . . . -1.0284 -0.909 -1.028 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.009 . . exonic exonic exonic . . 0.947 @ . . . 0.52 0.42 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.053 . . . . T 0.265 0.010 . . 37 . 0.007 . . 0.477 . . . 0.019 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.136 . . . . . 0.214 . 0.039 . HET 0 rs1798532 0.500 0.500 . . . . . . . . . . VI.18 . . V.89 V.89 . 0.190000 F8WD23 . . . . . 0.016 . . V.89 . . . . . . . . . . . . . . . . . . . 0.283 . 1.057 1.057000 . . 0.190000 . . 1.0E-255 0.013 0.187 . 0.083 0.005 . 0.449 . 0.267 1.057 0.127 0.5 rs1798532 rs1798532 rs1798532 rs1798532 1 1538 10 1/0 0,251,255 +rs1798396 16 70967558 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70967558 70967558 Chr16(GRCh37):g.70967558G>A 7158+2297 7158+2297 NM_001270974.2:c.7158+2297C>T p.? p.? 45 45 610812 2297 5' 81.9751 8.87834 0.879322 9.19044 81.9751 8.87834 0.879322 9.19044 0 rs1798396 no no 0 G 0.000000 0 0.001221 0.000000 0.001220 0.011029 0.000000 0.000000 0.002007 0.000000 0.004211 0.011029 37 0 1 3 0 0 29 0 4 30300 8700 820 272 1620 0 14446 3492 950 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 0 1 3 0 0 29 0 4 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition C T C>T 0.008 0.448 255 PASS . . . . . . . . . . . . . . . . 0.36231884 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.2932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.16 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798396 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0012 0.0012 0.0110 0 0 0.0020 0.0042 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798396 rs1798396 rs1798396 rs144029019 1 1538 10 1/0 0,255,255 +rs1774371 16 70967634 T A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70967634 70967634 Chr16(GRCh37):g.70967634T>A 7158+2221 7158+2221 NM_001270974.2:c.7158+2221A>T p.? p.? 45 45 610812 2221 5' 81.9751 8.87834 0.879322 9.19044 81.9751 8.87834 0.879322 9.19044 0 Cryptic Acceptor Strongly Activated 70967629 1.91916 0.006248 63.4563 4.39774 0.210086 70.1524 rs1774371 no no 0 T 0.000000 0 transversion A T A>T 0.016 0.367 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.2927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.31 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774371 0.489 0.493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.49 rs1774371 rs1774371 rs1774371 rs1774371 1 1538 10 1/0 0,255,255 +rs1774360 16 70972620 G C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70972620 70972620 Chr16(GRCh37):g.70972620G>C 6892 6892 NM_001270974.2:c.6892C>G p.Arg2298Gly p.Arg2298Gly 44 610812 39 3' 84.9803 XI.88 0.974465 XII.52 84.9803 XI.88 0.974465 XII.46 0 P-loop containing nucleoside triphosphate hydrolase rs1774360 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.984 3.111 R Arg CGT 0.082 G Gly GGT 0.162 2298 12 7 Frog -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0 III.53 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon44:c.C6892G:p.R2298G HYDIN:uc031qwy.1:exon44:c.C6892G:p.R2298G HYDIN:NM_001270974:exon44:c.C6892G:p.R2298G . . 0.41964287 . . @ 94 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.818 . @ . . . . . 1 0.984 . . 224.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R2298G|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.44) . . . . . . . 0.6291 0.650 0.629 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.849 @ . . . 0.21 0.34 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.336 . . . . D 0.617 0.045 . . 37 . 0.038 . . 0.590 . . . 0.758 0.378 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.662 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.512 . . . . . 0.940 . 0.680 . HET 0.4 rs1774360 0.489 0.493 . . . . . . . . . . 19.2678 . . 5.VI 5.VI . 0.020000 F8WD23 . . . . . 0.638 . . 5.VI . . . . . . . . . . . . . . . . . . . 0.185 . 2.660 2.660000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.512 0.978 . 0.621 . 0.713 2.660 0.917 0.49 rs1774360 rs1774360 rs1774360 rs1774360 1 1538 10 1/0 0,220,251 +rs1616432 16 70972701 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70972701 70972701 Chr16(GRCh37):g.70972701T>C 6854-43 6854-43 NM_001270974.2:c.6854-43A>G p.? p.? 44 43 610812 -43 3' 84.9803 XI.88 0.974465 XII.52 84.9803 XI.88 0.974465 13.1928 0 70972701 -83.5508 rs1616432 yes no Frequency 1 C 0.000000 0 0.001104 0.007478 0.001578 0.000000 0.000000 0.000628 0.000352 0.000000 0.000940 0.007478 301 178 54 0 0 19 44 0 6 272748 23802 34220 9930 18754 30242 124858 24556 6386 0.000015 0.000000 0.000058 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 2 0 1 0 0 0 1 0 0 297 178 52 0 0 19 42 0 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -2.539 255 PASS . . . . . . . . . . . . . . . . 0.44927537 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.4922 . . . . . . . . 3.028e-04 . . . 0.0016 0.0003 0.0004 0 0 9.717e-05 0.0015 6.338e-05 0.0012 0.0001 0.0002 0 0 1.888e-05 0 6.375e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.45 182 ENSG00000157423 HYDIN HYDIN . . . . . . 1011 0.0155596 64976 1004 0.0167372 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1616432 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0007 0.0016 0 0 0 0.0003 0.0007 0.0006 0.0128 0.0041 0.0024 0 0 0 0.0008 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1616432 rs1616432 rs1616432 rs1616432 1 1538 10 1/0 0,246,255 +rs2258307 16 70975667 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70975667 70975667 Chr16(GRCh37):g.70975667T>C 6725 6725 NM_001270974.2:c.6725A>G p.Gln2242Arg p.Gln2242Arg 43 610812 56 3' 84.8713 X.72 0.954333 X.72 84.8713 X.72 0.954333 X.99 0 Cryptic Acceptor Strongly Activated 70975655 0.001111 3.40739 0.001468 70.0426 P-loop containing nucleoside triphosphate hydrolase rs2258307 yes no Frequency 1 C 0.000000 0 0.002065 0.001815 0.003842 0.001334 0.006557 0.002220 0.001548 0.000080 0.003175 0.006557 496 38 100 12 94 56 177 2 17 240170 20934 26028 8998 14336 25220 114362 24938 5354 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 496 38 100 12 94 56 177 2 17 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.323 0.609 Q Gln CAG 0.744 R Arg CGG 0.207 2242 12 1 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon43:c.A6725G:p.Q2242R HYDIN:uc031qwy.1:exon43:c.A6725G:p.Q2242R HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R . . 0.46560848 . . @ 88 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.002 . . 189.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q2242R|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.43) . . . . . . . -2.0233 -1.836 -2.023 c . . . . . 7.977e-06 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.248 . . exonic exonic exonic . . 0.276 @ . . . 0.47 0.4 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.311 . . . . T 0.067 0.003 . . 37 . 0.039 . . 0.419 . . . 0.001 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.289 . 0.003 . HET 0.58 rs2258307 0.489 0.493 . . . . . . . . . . VII.12 . . V.32 2.III . 1.000000 F8WD23 . . . . . 0.019 . . 2.III 0.0026 0.0023 0.0039 0.0014 0.0073 4.613e-05 0.0017 0.0038 0.0022 0.0005 0.0003 0.0013 0 0 0.0003 0.0002 0 . . 0.223 . 0.074 0.074000 . . 1.000000 . . 1.0E-255 0.004 0.165 . 0.108 0.124 . 0.230 . 0.028 0.074 -1.875 0.49 rs2258307 rs2258307 rs2258307 rs117379722 1 1538 10 1/0 0,231,255 +rs148438433 16 70977969 A C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70977969 70977969 Chr16(GRCh37):g.70977969A>C 6532-117 6532-117 NM_001270974.2:c.6532-117T>G p.? p.? 42 41 610812 -117 3' 76.8651 8.20109 0.939216 8.27468 76.8651 8.20109 0.939216 8.27468 0 rs148438433 yes no Frequency/1000G 2 A 0.000000 0 0.003594 0.000000 0.000000 0.000000 0.008900 0.013000 0.009655 0.002176 0.008373 0.029801 0.000000 0.000000 0.014661 0.010029 0.009165 0.029801 299 19 7 9 0 0 220 35 9 30968 8730 836 302 1622 0 15006 3490 982 0.006689 0.000000 0.000000 0.000000 0.000000 0.000000 0.009091 0.000000 0.000000 2 0 0 0 0 0 2 0 0 295 19 7 9 0 0 216 35 9 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transversion T G T>G 0.000 -0.360 255 PASS . 0.0041 0.01 . 0.01 . 0.0036 0.013 . 0.0089 . . . . . . 0.52427185 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.19 0.15 182 ENSG00000157423 HYDIN HYDIN . . . . . . 772 0.0118813 64976 754 0.0125696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148438433 0.011 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0097 0.0084 0.0298 0 0.0100 0.0147 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs148438433 rs148438433 1 1538 10 1/0 0,255,255 +rs2458386 16 70986480 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 70986480 70986480 Chr16(GRCh37):g.70986480G>A 6375 6375 NM_001270974.2:c.6375C>T p.Thr2125= p.Thr2125Thr 41 610812 59 3' 77.1579 8.926 0.96995 6.37807 77.1579 8.926 0.96995 6.15452 0 P-loop containing nucleoside triphosphate hydrolase rs2458386 no no 0 G 0.000000 0 transition C T C>T 0.961 0.286 T Thr ACC 0.361 T Thr ACT 0.243 2125 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon41:c.C6375T:p.T2125T HYDIN:uc031qwy.1:exon41:c.C6375T:p.T2125T HYDIN:NM_001270974:exon41:c.C6375T:p.T2125T . . 0.4526316 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 95.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T2125|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.41) . . . . . . . 0.8210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.35 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2458386 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs2458386 rs2458386 rs2458386 rs115852469 1 1538 10 1/0 0,255,255 +rs1798337 16 70989299 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70989299 70989299 Chr16(GRCh37):g.70989299C>T 6295 6295 NM_001270974.2:c.6295G>A p.Val2099Met p.Val2099Met 40 610812 -22 5' 86.16 9.44859 0.971875 5.41019 86.16 9.44859 0.971875 5.54703 0 P-loop containing nucleoside triphosphate hydrolase rs1798337 yes no Frequency/HapMap/1000G 3 T 0.000000 0 transition G A G>A 0.732 0.367 V Val GTG 0.468 M Met ATG 1.000 2099 12 1 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.47 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon40:c.G6295A:p.V2099M HYDIN:uc031qwy.1:exon40:c.G6295A:p.V2099M HYDIN:NM_001270974:exon40:c.G6295A:p.V2099M . . 0.4526316 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.313 . @ . . . . . 1 0.017 . . 95.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2099M|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.40) . . . . . . . -1.0550 -0.810 -1.055 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.225 . . exonic exonic exonic . . 0.387 @ . . . 0.5 0.38 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.120 . . . . T 0.175 0.007 . . 37 . 0.041 . . 0.255 . . . 0.002 0.201 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.043 . . . . . 0.036 . 0.088 . HET 0.15 rs1798337 0.500 0.500 . . . . . . . . . . 2.1895 . . IV.66 III.47 . 0.670000 F8WD23 . . . . . 0.169 . . III.47 . . . . . . . . . . . . . . . . . . . 0.223 . 0.737 0.737000 . . 0.670000 . . 1.0E-255 0.964 0.336 . 0.345 0.914 . 0.236 . 0.195 0.737 -0.328 0.5 rs1798337 rs1798337 rs1798337 rs115844546 1 1538 10 1/0 0,255,255 +rs1774541 16 70989335 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 70989335 70989335 Chr16(GRCh37):g.70989335G>A 6259 6259 NM_001270974.2:c.6259C>T p.Arg2087Cys p.Arg2087Cys 40 610812 -58 5' 86.16 9.44859 0.971875 5.41019 86.16 9.44859 0.971875 5.42562 0 P-loop containing nucleoside triphosphate hydrolase rs1774541 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000029 0.000000 0.000000 0.000099 0.000318 0.000000 0.000008 0.000000 0.000000 0.000318 8 0 0 1 6 0 1 0 0 276814 24016 34414 10142 18846 30774 126378 25786 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 1 6 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 2.627 R Arg CGT 0.082 C Cys TGT 0.448 2087 12 9 Zebrafish -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0 III.39 255 PASS . . . . . . 0.0004 . 0.002 . . ENSG00000157423:ENST00000393567:exon40:c.C6259T:p.R2087C HYDIN:uc031qwy.1:exon40:c.C6259T:p.R2087C HYDIN:NM_001270974:exon40:c.C6259T:p.R2087C . . 0.45967743 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.937 . @ . . . . . 1 0.996 . . 124.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R2087C|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.40) . . . . . . . 0.5314 0.452 0.531 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.425 . . exonic exonic exonic . . 0.577 0.0004 . . . 0.52 0.38 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.323 . . . . D 0.729 0.078 . . 37 . 0.616 . . 0.653 . . . 0.798 0.495 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.874 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.784 . . . . . 0.556 . 0.739 . HET 0 rs1774541 0.500 0.500 . . . . . . . . . . XII.09 . . IV.66 IV.66 . 0.020000 F8WD23 . . . . . 0.330 . . IV.66 0 1.627e-05 0 0 0.0002 0 0 0 0 0 0.0001 0 0.0033 0.0012 0 6.661e-05 0 . . 0.393 . 2.286 2.286000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.393 0.996 . 0.479 . 0.551 2.286 0.917 0.5 rs1774541 rs1774541 rs1774541 rs116739010 1 1538 10 1/0 0,248,255 +rs1798348 16 70993775 C A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70993775 70993775 Chr16(GRCh37):g.70993775C>A 5969-52 5969-52 NM_001270974.2:c.5969-52G>T p.? p.? 39 38 610812 -52 3' 87.6921 8.14237 0.156156 6.71819 87.6921 8.14237 0.156156 6.43837 0 Cryptic Acceptor Strongly Activated 70993766 II.74 0.010259 71.8373 5.74242 0.126501 77.29 rs1798348 yes no Frequency/HapMap 2 C 0.000000 0 transversion G T G>T 0.000 0.528 255 PASS . . . . . . . . . . . . . . . . 0.48333332 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.2120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.23 0.25 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798348 0.098 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs1798348 rs1798348 rs1798348 rs1798348 1 1538 10 1/0 0,255,255 +rs1512631 16 70998603 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 70998603 70998603 Chr16(GRCh37):g.70998603T>C 5788+28 5788+28 NM_001270974.2:c.5788+28A>G p.? p.? 37 37 610812 28 5' 81.491 7.22671 0.975749 IV.74 81.491 7.22671 0.975749 4.41023 0 rs1512631 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.41830066 . . @ 64 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.0230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.46 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1512631 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1512631 rs1512631 rs1512631 rs146920901 1 1538 10 1/0 0,232,251 +rs1512633 16 71004695 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71004695 71004695 Chr16(GRCh37):g.71004695G>A 5380-33 5380-33 NM_001270974.2:c.5380-33C>T p.? p.? 36 35 610812 -33 3' 94.2749 9.11849 0.977978 7.75258 94.2749 9.11849 0.977978 7.53139 0 Cryptic Acceptor Weakly Activated 71004690 0.179152 57.0513 1.74397 2,00E-06 60.5969 71004692 -13.8503 rs1512633 yes no Frequency 1 A 0.000000 0 0.000163 0.000926 0.000446 0.000000 0.000000 0.000034 0.000033 0.000000 0.000316 0.000926 44 22 15 0 0 1 4 0 2 269982 23756 33622 9802 18658 29654 122718 25440 6332 0.000007 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 42 22 13 0 0 1 4 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.40350878 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . -0.4392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.21 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1512633 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0001 0.0005 0 0 0 1.857e-05 0.0002 3.372e-05 0.0017 0.0006 0 0 0 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1512633 rs1512633 rs1512633 rs115824489 1 1538 10 1/0 0,255,255 +rs783762 16 71007809 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71007809 71007809 Chr16(GRCh37):g.71007809C>T 5152 5152 NM_001270974.2:c.5152G>A p.Val1718Met p.Val1718Met 34 610812 -78 5' 87.5418 8.88433 0.992642 5.24386 87.5418 8.88433 0.992642 5.50081 0 rs783762 yes no Frequency/HapMap 2 C 0.000000 0 transition G A G>A 0.984 1.093 V Val GTG 0.468 M Met ATG 1.000 1718 12 7 Zebrafish 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0.04 III.39 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon34:c.G5152A:p.V1718M HYDIN:uc031qwy.1:exon34:c.G5152A:p.V1718M HYDIN:NM_001270974:exon34:c.G5152A:p.V1718M . . 0.45038167 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.629 . @ . . . . . 1 0.646 . . 131.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1718M|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.34) . . . . . . . -0.0900 -0.055 -0.090 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.235 @ . . . 0.42 0.28 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.446 . . . . . . . Uncertain_significance . 0 . 0.171 . . . . T 0.338 0.014 . . 37 . 0.374 . . 0.494 . . . 0.384 0.251 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.326 . . 0.276 . . . . . . 0 0.413 . . . . . 0.304 . 0.297 . HET 0.01 rs783762 0.141 0.109 . . . . . . . . . . VIII.39 . . IV.82 I.73 . 0.020000 F8WD23 . . . . . 0.426 . . . . . . . . . . . . . . . . . . . . . . 0.348 . 0.553 0.553000 . . 0.020000 . . 1.0E-255 0.783 0.293 . 0.452 0.989 . 0.310 . 0.490 0.553 0.871 0.14 rs783762 rs783762 rs783762 rs200219660 1 1538 10 1/0 0,244,255 +rs1774293 16 71008169 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71008169 71008169 Chr16(GRCh37):g.71008169T>C 4944 4944 NM_001270974.2:c.4944A>G p.Leu1648= p.Leu1648Leu 33 610812 35 3' 90.1127 9.18386 0.881 8.46649 90.1127 9.18386 0.881 9.09821 0 rs1774293 no no 0 C 0.000000 0 transition A G A>G 0.992 0.286 L Leu CTA 0.070 L Leu CTG 0.404 1648 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon33:c.A4944G:p.L1648L HYDIN:uc031qwy.1:exon33:c.A4944G:p.L1648L HYDIN:NM_001270974:exon33:c.A4944G:p.L1648L . . 0.53846157 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 52.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L1648|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.33) . . . . . . . 0.9351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.33 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774293 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774293 rs1774293 rs1774293 rs115159786 1 1538 10 1/0 0,255,255 +rs1798537 16 71015482 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71015482 71015482 Chr16(GRCh37):g.71015482G>A 4333-11 4333-11 NM_001270974.2:c.4333-11C>T p.? p.? 29 28 610812 -11 3' 81.7195 7.30594 0.801227 2.90064 85.8214 8.07606 0.8824 3.27395 0.0856384 Cryptic Acceptor Strongly Activated 71015471 7.30594 0.801227 81.7195 8.07606 0.8824 85.8214 rs1798537 no no 0 G 0.000000 0 transition C T C>T 0.024 0.528 255 PASS . . . . . . . . . . . . . . . . 0.59574467 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.7800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.44 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798537 0.500 0.500 . . . . . . . . . . . . . . . . . . 0.0004 0.062 . . . . . . II.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798537 rs1798537 rs1798537 rs114876278 1 1538 10 1/0 0,255,255 +rs1774516 16 71025245 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71025245 71025245 Chr16(GRCh37):g.71025245C>T 3840 3840 NM_001270974.2:c.3840G>A p.Thr1280= p.Thr1280Thr 25 610812 -25 5' 68.5262 3.68127 0.289625 0 68.5262 3.68127 0.289625 0 0 rs1774516 yes no Frequency 1 C 0.000000 0 0.000073 0.000173 0.000029 0.000000 0.000107 0.000000 0.000096 0.000040 0.000000 0.000173 20 4 1 0 2 0 12 1 0 273692 23156 34310 10122 18622 30776 125090 25246 6370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 4 1 0 2 0 12 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.732 T Thr ACG 0.116 T Thr ACA 0.280 1280 255 PASS . . . . . . . . . . . ENSG00000157423:ENST00000393567:exon25:c.G3840A:p.T1280T HYDIN:uc031qwy.1:exon25:c.G3840A:p.T1280T HYDIN:NM_001270974:exon25:c.G3840A:p.T1280T . . 0.4878049 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1280|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.25) . . . . . . . -0.1850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.12 0.24 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774516 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.851e-05 0 0 0 4.552e-05 5.388e-05 0 0 0.0005 0.0005 0.0013 0 0.0014 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774516 rs1774516 rs1774516 rs116894611 1 1538 10 1/0 0,255,255 +rs783748 16 71025325 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71025325 71025325 Chr16(GRCh37):g.71025325A>G 3786-26 3786-26 NM_001270974.2:c.3786-26T>C p.? p.? 25 24 610812 -26 3' 75.1323 5.54425 0.821885 6.08892 75.1323 5.54425 0.821885 6.00286 0 rs783748 yes no Frequency/HapMap 2 A 0.000000 0 0.000184 0.001856 0.000175 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.001856 51 44 6 0 0 0 0 1 0 276706 23708 34378 10148 18866 30778 126656 25728 6444 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 44 6 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.772 1.577 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.6983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.26 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs783748 0.120 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . II.88 0.0015 0.0001 0.0002 0 0 0 0 0 0 0.0026 0.0007 0 0 0 0.0003 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs783748 rs783748 rs783748 rs139397140 1 1538 10 1/0 0,255,255 +rs1798502 16 71025776 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71025776 71025776 Chr16(GRCh37):g.71025776T>C 3785+197 3785+197 NM_001270974.2:c.3785+197A>G p.? p.? 24 24 610812 197 5' 83.7359 8.06524 0.95353 0 83.7359 8.06524 0.95353 0 0 rs1798502 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.016 0.932 255 PASS . . . . . . . . . . . . . . . . 0.5494506 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.2920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.41 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1798502 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1798502 rs1798502 rs1798502 rs144695325 1 1538 10 1/0 0,255,255 +rs1774514 16 71025948 T A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71025948 71025948 Chr16(GRCh37):g.71025948T>A 3785+25 3785+25 NM_001270974.2:c.3785+25A>T p.? p.? 24 24 610812 25 5' 83.7359 8.06524 0.95353 0 83.7359 8.06524 0.95353 0 0 rs1774514 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.4027778 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||HYDIN|mRNA|CODING|NM_001270974|) . . . . . . . 0.0633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.1 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1774514 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1774514 rs1774514 rs1774514 rs146094483 1 1538 10 1/0 0,255,255 +rs1774513 16 71026076 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71026076 71026076 Chr16(GRCh37):g.71026076C>G 3682 3682 NM_001270974.2:c.3682G>C p.Val1228Leu p.Val1228Leu 24 610812 38 3' 77.0336 8.79984 0.783498 5.01628 77.0336 8.79984 0.783498 5.20663 0 Cryptic Acceptor Strongly Activated 71026067 0.198107 0.097085 6.23741 0.391555 75.6842 rs1774513 no no 0 G 0.000000 0 transversion G C G>C 0.000 -0.924 V Val GTG 0.468 L Leu CTG 0.404 1228 12 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 1 III.39 255 PASS . . . . . . . . . . . . HYDIN:uc031qwy.1:exon24:c.G3682C:p.V1228L HYDIN:NM_001270974:exon24:c.G3682C:p.V1228L . . 0.50961536 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.006 . . 104.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V1228L|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.24) . . . . . . . -1.6193 -1.588 -1.619 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.043 @ . . . 0.14 0.22 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.127 . . . . T 0.178 0.007 . . 37 . 0.010 . . 0.448 . . . 0.006 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.022 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.021 . . . . . 0.063 . 0.026 . HET 0 rs1774513 0.500 0.500 . . . . . . . . . . III.54 . . 5.VII -3.55 . 0.730000 F8WD23 . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.185 . -0.468 -0.468000 . . 0.730000 . . 1.0E-255 0.000 0.063 . 0.095 0.198 . 0.047 . 0.101 -0.468 -1.260 0.5 rs1774513 rs1774513 rs1774513 rs117974257 1 1538 10 1/0 0,255,255 +rs6416709 16 71054178 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71054178 71054178 Chr16(GRCh37):g.71054178T>C 3229 3229 NM_001270974.2:c.3229A>G p.Ile1077Val p.Ile1077Val 22 610812 43 3' 94.3025 11.078 0.993089 XI.74 94.3025 11.078 0.993089 12.0785 0 rs6416709 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000036 0.000000 0.000149 0.000000 0.000000 0.000033 0.000032 0.000000 0.000000 0.000149 10 0 5 0 0 1 4 0 0 275056 23940 33650 10124 18558 30582 126040 25774 6388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 5 0 0 1 4 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.583 -0.037 I Ile ATA 0.163 V Val GTA 0.114 1077 12 4 Mouse 3 3 4 0 0 5.II 5.IX 111 84 29 C0 353.86 0.00 Tolerated 0.11 III.37 212 PASS . . . . . . 0.0004 0.0029 . . . . HYDIN:uc031qwy.1:exon22:c.A3229G:p.I1077V HYDIN:NM_001270974:exon22:c.A3229G:p.I1077V . . 0.19444445 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.130 . . 36.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I1077V|HYDIN|mRNA|CODING|NM_001270974|NM_001270974.ex.22) . . . . . . . -0.9816 -0.966 -0.982 c . . . . . 1.117e-04 . . . 0 0.0001 8.697e-05 0 0 0.0002 0 0.0002 0 5.722e-05 8.965e-05 0 0 3.704e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.063 . . exonic exonic exonic . . 0.153 0.0004 . . . 0.53 0.6 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.405 . 942 0.0144977 64976 942 0.0157037 59986 Uncertain_significance . 0 . 0.089 . . . . T 0.081 0.004 . . 37 . 0.064 . . 0.330 . . . 0.769 0.205 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.160 . . 0 0 0 0 0 0 . 0.090 . . 0.104 . . . . . . 0 0.176 . . . . . 0.022 . 0.223 . HET 0.11 rs6416709 0.500 0.500 . . . . . . . . . . I.03 . . IV.61 0.358 . 0.470000 F8WD23 . . . . . 0.138 . . . 0 4.096e-05 0.0002 0 0 0 3.602e-05 0 3.27e-05 0 0 0 0 0 0 0 0 . . 0.214 . 0.228 0.228000 . . 0.470000 . . 1.0E-212 0.005 0.169 . 0.536 0.142 . 0.090 . 0.211 0.228 -0.013 0.5 rs6416709 rs6416709 rs6416709 rs117718337 1 1538 10 1/0 0,255,255 +rs1022220 16 71061495 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71061495 71061495 Chr16(GRCh37):g.71061495A>G 3042+10 3042+10 NM_001270974.2:c.3042+10T>C p.? p.? 20 20 610812 10 5' 85.7138 9.16003 0.995964 2.54456 85.7138 9.16003 0.995964 2.29415 0 rs1022220 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245500 15282 33466 9834 17166 30712 111286 22294 5460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 62 Exomes transition T C T>C 0.000 -1.651 255 PASS . . . . . . . . . . . . HYDIN:uc021tkq.2:exon20:c.T3052C:p.X1018Q HYDIN:NM_017558:exon20:c.T3052C:p.X1018Q . . 0.6039604 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.243 . @ . . . . . 0 0.026 . . 101.0 . . . . . . . . . . -0.9495 -1.145 -0.949 c . . . . . . . . . . . . . . . . . . . . . . . . . stoploss stoploss stoploss . . . exonic exonic exonic . . 0.012 @ . . . 0.46 0.35 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 1 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.027 . . . HET 0.58 rs1022220 0.500 0.500 . . . . . . . . . . 1.689 . . IV.85 -7.48 . . . . . . . . 0.006 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.014 . -1.083 -1.083000 . . . . . 1.0E-255 0.000 0.063 . 0.368 0.002 . 0.023 . 0.080 -1.083 -2.985 0.5 rs1022220 rs1022220 rs1022220 rs1022220 1 1538 10 1/0 0,255,255 +rs7188044 16 71095956 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71095956 71095956 Chr16(GRCh37):g.71095956C>G 2376+116 2376+116 NM_001270974.2:c.2376+116G>C p.? p.? 17 17 610812 116 5' 77.6696 6.28579 0.568772 I.74 77.6696 6.28579 0.568772 I.74 0 rs7188044 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.38709676 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.1133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.22 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7188044 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs7188044 rs7188044 rs7188044 rs7188044 1 1538 10 1/0 0,255,255 +rs7189449 16 71095987 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71095987 71095987 Chr16(GRCh37):g.71095987T>C 2376+85 2376+85 NM_001270974.2:c.2376+85A>G p.? p.? 17 17 610812 85 5' 77.6696 6.28579 0.568772 I.74 77.6696 6.28579 0.568772 I.74 0 rs7189449 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.3939394 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.1652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.25 0.33 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7189449 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs7189449 rs7189449 rs7189449 rs7189449 1 1538 10 1/0 0,248,255 +rs3817211 16 71098649 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71098649 71098649 Chr16(GRCh37):g.71098649T>C 2170 2170 NM_001270974.2:c.2170A>G p.Asn724Asp p.Asn724Asp 16 610812 -42 5' 95.6376 X.36 0.995743 6.95794 95.6376 X.36 0.995743 7.43287 0 rs3817211 yes no Frequency 1 T 0.000000 0 transition A G A>G 1.000 3.353 N Asn AAT 0.464 D Asp GAT 0.461 724 12 9 Zebrafish 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Deleterious 0 III.37 255 PASS . . . . . . . . . . . . . . . . 0.48965517 . . @ 71 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.786 . @ . . . . . 1 0.792 . . 145.0 . . . . . . . . . . 0.7308 0.657 0.731 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.092 . . exonic exonic exonic . . 0.610 @ . . . 0.61 0.51 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.345 . . . . D 0.770 0.099 . . 37 . 0.375 . . 0.404 . . . 0.902 0.388 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.788 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.601 . 0.540 . HET 0 rs3817211 0.500 0.500 . . . . . . . . . . 13.3886 . . 4.VIII 4.VIII . 0.000000 . . . . . . 0.442 . . 4.VIII . . . . . . . . . . . . . . . . . . . 0.209 . 1.801 1.801000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.998 . 0.687 . 0.391 1.801 0.991 0.5 rs3817211 rs3817211 rs3817211 rs117626004 1 1538 10 1/0 0,243,255 +rs1108875 16 71100594 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71100594 71100594 Chr16(GRCh37):g.71100594G>A 2075+599 2075+599 NM_001270974.2:c.2075+599C>T p.? p.? 15 15 610812 599 5' 72.1081 7.75781 0.790909 7.35089 72.1081 7.75781 0.790909 7.35089 0 Cryptic Acceptor Strongly Activated 71100582 2.96316 0.00093 73.6896 3.18467 0.001681 77.0043 rs1108875 yes no Frequency 1 A 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30928 8708 836 302 1622 0 14988 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Genomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.41379312 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.1637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 intronic . . . @ . . . 0.55 0.58 182 ENSG00000157423 HYDIN HYDIN . uc002ezw.4:c.*547C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1108875 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.233e-05 0 0 0 0 6.672e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1108875 rs1108875 rs1108875 rs1108875 1 1538 10 1/0 0,255,255 +rs10744982 16 71101200 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71101200 71101200 Chr16(GRCh37):g.71101200T>C 2068 2068 NM_001270974.2:c.2068A>G p.Thr690Ala p.Thr690Ala 15 610812 -8 5' 72.1081 7.75781 0.790909 7.35089 72.1081 7.75781 0.790909 7.33047 0 rs10744982 yes no Frequency 1 T 0.000000 0 0.000867 0.003755 0.000737 0.000000 0.001186 0.000328 0.000613 0.000351 0.000939 0.003755 238 89 25 0 22 10 77 9 6 274490 23704 33912 10094 18552 30510 125652 25674 6392 0.000007 0.000000 0.000000 0.000000 0.000108 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 236 89 25 0 20 10 77 9 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4844499|COSM4844499 Cervix|Bone 0.003040|0.001757 329|569 transition A G A>G 1.000 3.434 T Thr ACA 0.280 A Ala GCA 0.226 690 12 7 Frog 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Deleterious 0.05 III.37 255 PASS . . . . . . . . . . . . . . . . 0.37894738 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.756 . @ . . . . . 1 0.582 . . 95.0 . . . . . . . . . . 0.3697 0.395 0.370 c . . . . . 3.079e-04 . . . 0.0008 0.0003 0 0.0004 0 0.0002 0 0.0002 0.0007 0.0002 0 0.0001 0 9.289e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . 0.658 @ . . . 0.48 0.51 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.336 . . . . T 0.399 0.018 . . 37 . 0.251 . . 0.170 . . . 0.488 0.375 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . 0.647 . . 0.640 . . . . . . 0 0.443 . . . . . 0.622 . 0.524 . HET 0.09 rs10744982 0.500 0.500 . . . . . . . . . . 13.7486 . . IV.99 IV.99 . 0.500000 . . . . . . 0.515 . . IV.99 0.0017 0.0005 0.0008 0 0.0009 0 0.0003 0.0006 0.0003 0.0074 0.0041 0 0 0.0037 0.0026 0.0030 0.0031 . . 0.348 . 1.891 1.891000 . . 0.500000 . . 1.0E-255 1.000 0.715 . 0.750 0.995 . 0.520 . 0.600 1.891 0.991 0.5 rs10744982 rs10744982 rs10744982 rs10744982 1 1538 10 1/0 0,253,255 +rs10735134 16 71101270 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71101270 71101270 Chr16(GRCh37):g.71101270C>T 1998 1998 NM_001270974.2:c.1998G>A p.Val666= p.Val666Val 15 610812 24 3' 99.602 13.1525 0.995672 15.973 99.602 13.1525 0.995672 15.4733 0 rs10735134 yes no Frequency 1 T 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000033 0.000009 0.000000 0.000000 0.000033 2 0 0 0 0 1 1 0 0 243456 15188 32752 9760 16906 30306 110882 22232 5430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 49 Exomes transition G A G>A 0.992 0.609 V Val GTG 0.468 V Val GTA 0.114 666 255 PASS . . . . . . . . . . . . . . . . 0.3898305 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 118.0 . . . . . . . . . . -0.2957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.5 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10735134 0.500 0.500 . . . . . . . . . . VIII.37 . ENST00000542890 IV.99 II.94 . . . . . . . . . . . II.94 0 8.215e-06 0 0 0 0 9.019e-06 0 3.3e-05 . . . . . . . . . . . . 0.543 0.543000 . . . . . 1.0E-255 . . . . . . . . . 0.543 . 0.5 rs10735134 rs10735134 rs10735134 rs10735134 1 1538 10 1/0 0,245,255 +rs1398391 16 71103269 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71103269 71103269 Chr16(GRCh37):g.71103269T>C 1875 1875 NM_001270974.2:c.1875A>G p.Pro625= p.Pro625Pro 14 610812 -100 5' 73.5622 5.20384 0.782866 2.71577 73.5622 5.20384 0.782866 2.71577 0 rs1398391 yes no Frequency 1 C 0.000000 0 0.000116 0.001113 0.000000 0.000000 0.000323 0.000000 0.000000 0.000000 0.000000 0.001113 32 26 0 0 6 0 0 0 0 275828 23368 34404 10132 18554 30770 126356 25788 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 26 0 0 6 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.781 P Pro CCA 0.274 P Pro CCG 0.115 625 255 PASS . . . . . . . . . . . . . . . . 0.5507246 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -2.1038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.67 182 ENSG00000157423 HYDIN HYDIN . . . . . . 935 0.0143899 64976 935 0.015587 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1398391 0.500 0.500 . . . . . . . . . . V.48 . ENST00000542890 IV.98 -9.95 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0032 0.0011 0 0 0.0043 0 0 0 . . . . -3.298 -3.298000 . . . . . 1.0E-255 . . . . . . . . . -3.298 . 0.5 rs1398391 rs1398391 rs1398391 rs1398391 1 1538 10 1/0 0,255,255 +rs1398392 16 71103419 T C - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71103419 71103419 Chr16(GRCh37):g.71103419T>C 1739-14 1739-14 NM_001270974.2:c.1739-14A>G p.? p.? 14 13 610812 -14 3' 99.1721 9.44944 0.94061 9.62247 99.1721 10.024 0.944972 XI.82 0.0218151 rs1398392 yes no Frequency 1 T 0.000000 0 0.000272 0.002527 0.000000 0.000000 0.000877 0.000000 0.000000 0.000000 0.000000 0.002527 74 58 0 0 16 0 0 0 0 271634 22948 34072 9992 18254 30420 124096 25506 6346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 74 58 0 0 16 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.024 0.125 255 PASS . . . . . . . . . . . . . . . . 0.4680851 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.3326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.42 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1398392 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0073 0.0025 0 0 0.0122 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1398392 rs1398392 rs1398392 rs113025057 1 1538 10 1/0 0,255,255 +rs1877467 16 71109768 G A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71109768 71109768 Chr16(GRCh37):g.71109768G>A 1738+4020 1738+4020 NM_001270974.2:c.1738+4020C>T p.? p.? 13 13 610812 4020 5' 82.9985 9.27414 0.964856 2.64501 82.9985 9.27414 0.964856 2.64501 0 rs1877467 no no 0 A 0.000000 0 transition C T C>T 0.016 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.4489796 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.5917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.49 0.27 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1877467 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1877467 rs1877467 rs1877467 rs145016618 1 1538 10 1/0 0,255,255 +rs2036978 16 71109904 C A - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71109904 71109904 Chr16(GRCh37):g.71109904C>A 1738+3884 1738+3884 NM_001270974.2:c.1738+3884G>T p.? p.? 13 13 610812 3884 5' 82.9985 9.27414 0.964856 2.64501 82.9985 9.27414 0.964856 2.64501 0 Cryptic Acceptor Strongly Activated 71109891 5.45618 0.617316 79.4259 7.96066 0.901357 84.8989 rs2036978 yes no Frequency 1 C 0.000000 0 transversion G T G>T 0.319 0.205 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.1546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.33 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2036978 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs2036978 rs2036978 rs2036978 rs146791531 1 1538 10 1/0 0,255,255 +rs1512612 16 71113780 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71113780 71113780 Chr16(GRCh37):g.71113780C>T 1738+8 1738+8 NM_001270974.2:c.1738+8G>A p.? p.? 13 13 610812 8 5' 82.9985 9.27414 0.964856 2.64501 82.9985 9.27414 0.980491 3.08626 0.0054015 Cryptic Acceptor Strongly Activated 71113761 4.08815 0.022028 70.774 4.57259 0.026238 70.774 rs1512612 yes no Frequency 1 T 0.000000 0 COSM5021895 Bone 0.001757 569 transition G A G>A 0.000 -1.005 235 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.1623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.33 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1512612 0.500 0.500 . . . . . . . . . . . . . . . . . . 0 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.5 rs1512612 rs1512612 rs1512612 rs116927290 1 1538 10 1/0 0,255,255 +rs62040318 16 71122408 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution missense exon GRCh37 71122408 71122408 Chr16(GRCh37):g.71122408C>T 1466 1466 NM_001270974.2:c.1466G>A p.Gly489Asp p.Gly489Asp 12 610812 20 3' 87.0211 8.17572 0.80581 5.20733 87.0211 8.17572 0.852303 5.53014 0.0192324 rs62040318 yes no Frequency 1 C 0.000000 0 COSM3957787|COSM3957787|COSM3957787 Thyroid|Lung|Bone 0.002677|0.000402|0.001757 747|2487|569 transition G A G>A 1.000 3.999 G Gly GGC 0.342 D Asp GAC 0.539 489 12 10 Zebrafish -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 353.86 0.00 Deleterious 0 III.37 255 PASS . . . . . . . . . . . . . . . . 0.42424244 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.679 . @ . . . . . 1 0.823 . . 66.0 . . . . . . . . . . 0.6123 0.511 0.612 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.110 . . exonic exonic exonic . . 0.722 @ . . . 0.63 0.7 182 ENSG00000157423 HYDIN HYDIN . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.332 . . . . D 0.612 0.044 . . 37 . 0.531 . . 0.592 . . . 0.801 0.513 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.908 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.614 . . . . . 0.905 . 0.938 . HET 0 rs62040318 0.380 0.333 . . . . . . . . . . 18.4325 . . V.22 V.22 . 0.060000 . . . . . . 0.593 . . V.22 . . . . . . . . . . . . . . . . . . . 0.185 . 2.467 2.467000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.490 1.000 . 0.663 . 0.379 2.467 0.871 0.38 rs62040318 rs62040318 rs62040318 rs144011854 1 1538 10 1/0 0,255,255 +rs4315334 16 71127850 A G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71127850 71127850 Chr16(GRCh37):g.71127850A>G 1328-12 1328-12 NM_001270974.2:c.1328-12T>C p.? p.? 11 10 610812 -12 3' 86.9006 7.23076 0.929634 4.47143 83.5859 6.64578 0.890476 3.45045 -0.0537221 rs4315334 yes no Frequency 1 A 0.000000 0 transition T C T>C 0.102 2.627 255 PASS . . . . . . . . . . . . . . . . 0.475 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.6907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.7 0.71 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4315334 0.500 0.500 . . . . . . . . . . . . . . . . . . 0.0408 0.348 . . . . . . IV.95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs4315334 rs4315334 rs4315334 rs4315334 1 1538 10 1/0 0,255,255 +rs929311 16 71163579 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71163579 71163579 Chr16(GRCh37):g.71163579C>T 1191 1191 NM_001270974.2:c.1191G>A p.Lys397= p.Lys397Lys 9 610812 -37 5' 81.348 8.04975 0.942364 2.12762 81.348 8.04975 0.942364 1.77676 0 rs929311 yes no Frequency 1 C 0.000000 0 0.000169 0.000345 0.000181 0.000209 0.000166 0.000138 0.000131 0.000080 0.000651 0.000345 45 8 6 2 3 4 16 2 4 266660 23194 33106 9562 18126 29056 122424 25050 6142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 8 6 2 3 4 16 2 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4129297|COSM4129297|COSM4129297|COSM4129297|COSM4129297 Thyroid|Lung|Liver|Large intestine|Haematopoietic and lymphoid tissue 0.001339|0.002815|0.002531|0.001793|0.000283 747|2487|2371|2231|3530 transition G A G>A 0.992 2.385 K Lys AAG 0.575 K Lys AAA 0.425 397 255 PASS . . . . . . . . . . . . . . . . 0.64912283 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . 1.1734 . . . . . . . . 9.866e-04 . . . 0.0002 0.0007 8.85e-05 0 0 0.0005 0 0.0026 0.0002 0.0006 9.124e-05 0.0003 0 0.0003 0 0.0026 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.59 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs929311 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I 0 0.0001 0.0002 0.0002 5.982e-05 9.24e-05 8.283e-05 0.0002 0.0001 0.0010 0.0007 0 0 0.0014 0 0.0005 0.0033 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs929311 rs929311 rs929311 rs78804306 1 1538 10 1/0 0,255,255 +rs929312 16 71163606 C T - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution synonymous exon GRCh37 71163606 71163606 Chr16(GRCh37):g.71163606C>T 1164 1164 NM_001270974.2:c.1164G>A p.Gln388= p.Gln388Gln 9 610812 -64 5' 81.348 8.04975 0.942364 2.12762 81.348 8.04975 0.942364 1.56774 0 rs929312 yes no Frequency 1 C 0.000000 0 COSM4129303|COSM4129303|COSM4129303 Thyroid|Large intestine|Breast 0.001339|0.003586|0.000408 747|2231|2453 transition G A G>A 0.969 0.367 Q Gln CAG 0.744 Q Gln CAA 0.256 388 255 PASS . . . . . . . . . . . . . . . . 0.3469388 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . 0.9546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.59 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs929312 0.413 0.420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.41 rs929312 rs929312 rs929312 rs79679861 1 1538 10 1/0 0,255,255 +rs2040830 16 71167220 C G - HYDIN 19368 HYDIN, axonemal central pair apparatus protein NM_001270974.2 -1 21046 15366 NP_001257903.1 Q4G0P3 substitution intron GRCh37 71167220 71167220 Chr16(GRCh37):g.71167220C>G 1044-3494 1044-3494 NM_001270974.2:c.1044-3494G>C p.? p.? 9 8 610812 -3494 3' 86.9718 9.85646 0.981331 7.78412 86.9718 9.85646 0.981331 7.78412 0 Cryptic Acceptor Strongly Activated 71167214 0.826594 0.005193 71.9346 1.94993 0.066007 75.7184 rs2040830 no no 0 G 0.000000 0 transversion G C G>C 0.016 1.981 255 PASS . . . . . . . . . . . . . . . . 0.40298507 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . 0.2348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.24 182 ENSG00000157423 HYDIN HYDIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2040830 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . II.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs2040830 rs2040830 rs2040830 rs151250224 1 1538 10 1/0 0,255,255 +. 16 71687002 CTT C - PHLPP2 29149 PH domain and leucine rich repeat protein phosphatase 2 NM_015020.3 -1 8317 3972 NP_055835.2 Q6ZVD8 deletion intron GRCh37 71687003 71687004 Chr16(GRCh37):g.71687003_71687004del 2586-80 2586-79 NM_015020.3:c.2586-80_2586-79del p.? p.? 18 17 611066 -79 3' 92.858 XI.73 0.95971 XII.42 92.858 XI.73 0.95971 XII.42 0 rs778573619 no no 0 0.000000 0 0.004990 0.000484 0.010274 0.000000 0.004992 0.000000 0.005819 0.058065 0.010593 0.058065 93 3 3 0 6 0 58 18 5 18638 6198 292 196 1202 0 9968 310 472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 1 1 0 0 0 34 12 3 0 0 0 0 0 0 0 0 0 RF 47 Genomes AA 255 Pass . . . . . . . . . . . . . . . . 0.5522388 . . . 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000040199 PHLPP2 PHLPP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs778573619 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7285 . . . . . . . . . . . . . . . 0.0005 0.0050 0.0103 0 0.0050 0.0581 0.0058 0.0106 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,26 +rs372741847 16 71782386 G A - AP1G1 555 Adaptor-related protein complex 1, gamma 1 subunit NM_001030007.1 -1 6850 2478 NP_001025178.1 substitution intron GRCh37 71782386 71782386 Chr16(GRCh37):g.71782386G>A 1507-105 1507-105 NM_001030007.1:c.1507-105C>T p.? p.? 17 16 603533 -105 3' 84.8299 XI.05 0.997688 13.5242 84.8299 XI.05 0.997688 13.5242 0 rs372741847 yes no Frequency 1 G 0.000000 0 0.000356 0.000229 0.001193 0.009934 0.000000 0.000000 0.000334 0.000000 0.000000 0.009934 11 2 1 3 0 0 5 0 0 30936 8730 838 302 1616 0 14984 3492 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 1 3 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition C T C>T 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.1351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000166747 AP1G1 AP1G1 . . . . . . 15 0.000230854 64976 15 0.000250058 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372741847 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7285 . . . . . . . . . . . . . . . 0.0002 0.0004 0.0012 0.0099 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372741847 rs372741847 1 1538 10 1/0 0,255,255 +rs375133590 16 72042579 G A - DHODH 2867 Dihydroorotate dehydrogenase (quinone) NM_001361.4 1 2427 1188 NP_001352.2 Q02127 substitution upstream GRCh37 72042579 72042579 Chr16(GRCh37):g.72042579G>A -85 -85 NM_001361.4:c.-85G>A p.? p.? 1 126064 -106 5' 83.1949 8.39958 0.983203 8.90851 83.1949 8.39958 0.983203 8.90851 0 rs375133590 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.005000 0.001400 0.006196 0.000916 0.002387 0.006623 0.000000 0.000000 0.009323 0.009159 0.008147 0.009323 192 8 2 2 0 0 140 32 8 30986 8732 838 302 1622 0 15016 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 192 8 2 2 0 0 140 32 8 0 0 0 0 0 0 0 0 0 PASS 45 Genomes 3164 1380 4544 18 4 22 0.00565682 0.00289017 0.00481822 0.00565682 0.00289017 0.00481822 28 transition G A G>A 0.039 2.304 255 PASS . . . . . . 0.0012 0.0014 . 0.005 . . . . . . 0.5441176 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . UPSTREAM(MODIFIER||||DHODH|mRNA|CODING|NM_001361|) 0.0029 0.0048 0.0057 0.0029 0.0048 0.0057 . 0.7389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 upstream upstream . . . 0.0012 . . . 0.39 0.45 182 ENSG00000102967 DHODH DHODH ENST00000572887:c.-85G>A . . . . . 293 0.00450936 64976 287 0.00478445 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs375133590 . 0.065 . . . . . . . . . . . . . . . . . . . . . 0.004818 . . . . III.71 . . . . . . . . . 0.0009 0.0062 0.0024 0.0066 0 0.0092 0.0093 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0057 . . rs375133590 rs375133590 1 1538 10 1/0 0,255,255 +. 16 72097070 A G - HPR 5156 Haptoglobin-related protein NM_020995.3 1 1242 1047 NP_066275.3 P00739 substitution upstream GRCh37 72097070 72097070 Chr16(GRCh37):g.72097070A>G -85 -85 NM_020995.3:c.-85A>G p.? p.? 1 140210 -90 5' 82.5023 7.07454 0.940163 4.80119 82.5023 7.07454 0.940163 4.80119 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30930 8716 836 302 1602 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition A G A>G 0.425 -0.037 189 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . . . . . . . . . 0.0711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic upstream upstream . . . @ . . . . . . . HPR HPR . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs147899609 16 72110637 C A - HPR 5156 Haptoglobin-related protein NM_020995.3 1 1242 1047 NP_066275.3 P00739 substitution missense exon GRCh37 72110637 72110637 Chr16(GRCh37):g.72110637C>A 704 704 NM_020995.3:c.704C>A p.Thr235Asn p.Thr235Asn 5 140210 436 3' 80.3069 8.44715 0.721507 VII.45 80.3069 8.44715 0.721507 VII.45 0 Peptidase S1/S6, chymotrypsin/Hap Haptoglobin rs147899609 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.007000 0.000000 0.006320 0.001790 0.002499 0.004732 0.000000 0.000130 0.009922 0.010816 0.005418 0.010816 1751 43 86 48 0 4 1256 279 35 277070 24016 34418 10144 18868 30780 126590 25794 6460 0.000108 0.000000 0.000058 0.000000 0.000000 0.000065 0.000142 0.000310 0.000000 15 0 1 0 0 1 9 4 0 1721 43 84 48 0 2 1238 271 35 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8305 4164 12469 77 8 85 0.00918635 0.00191755 0.00677075 0.00918635 0.00191755 0.00677075 144 transversion C A C>A 0.102 3.918 T Thr ACT 0.243 N Asn AAT 0.464 235 11 10 Opossum 0 0 0 0.71 I.33 8.VI 11.VI 61 56 65 C15 58.02 64.58 Deleterious 0.02 III.46 bad 3.995E-4 0.01177 255 PASS . 0.0027 . . 0.01 . 0.0014 . . 0.007 . . HPR:uc002fby.3:exon5:c.C704A:p.T235N HPR:NM_020995:exon5:c.C704A:p.T235N . . 0.5 . . @ 86 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.475 . @ . . . . . 1 0.352 . . 172.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|T235N|HPR|mRNA|CODING|NM_020995|NM_020995.ex.5) 0.0019 0.0068 0.0092 0.0019 0.0068 0.0092 . -0.0938 -0.357 -0.094 c . . . . . 5.782e-03 . . . 0.0019 0.0048 0.0020 0 0.0079 0.0084 0.0085 0 0.0019 0.0053 0.0019 0 0.0092 0.0083 0.0101 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.886 . . exonic exonic exonic . . 0.292 0.0014 . . . 0.43 0.28 182 ENSG00000261701 HPR HPR . . . 1.000 0.480 . 470 0.00723344 64976 463 0.00771847 59986 Uncertain_significance . 0 . 0.629 . . . . D 0.681 0.060 . . 37 . 0.893 . . 0.821 . . . 0.557 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.456 . . 0 0 0 0 0 0 . 0.715 . . 0.732 . . . . . . 0 0.614 . . . . . 0.518 . 0.249 . HET 0.01 rs147899609 . 0.065 . . . . . 0.0027472527472527475 0.0 0.0 0.0 0.0079155672823219 XI.01 0.001716 . 2.V 2.V . 0.010000 P00739 . . . 0.006771 . 0.248 . . 2.V 0.0022 0.0061 0.0024 0.0046 0 0.0107 0.0096 0.0047 0.0001 0.0011 0.0080 0.0048 0.0099 0 0.0114 0.0122 0.0092 . . 0.283 . 1.386 1.386000 . . 0.010000 . . 1.0E-255 0.079 0.221 . 0.172 0.274 . 0.550 . 0.290 1.386 0.871 0.01 . . rs147899609 rs147899609 1 1538 10 1/0 0,232,241 +. (chr16:74366430 A/G) 16 74366430 A G Not on a known gene +. (chr16:74366435 A/G) 16 74366435 A G Not on a known gene +. (chr16:74366440 A/G) 16 74366440 A G Not on a known gene +. 16 74425490 A C - NPIPB15 34409 Nuclear pore complex interacting protein family, member B15 NM_001306094.1 1 1389 1332 NP_001293023.1 A6NHN6 substitution missense exon GRCh37 74425490 74425490 Chr16(GRCh37):g.74425490A>C 844 844 NM_001306094.1:c.844A>C p.Ile282Leu p.Ile282Leu 7 202 3' 90.4337 XI.63 0.960909 7.70782 90.4337 XI.63 0.960909 7.70782 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245880 15288 33570 9850 17238 30778 111386 22294 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 359 Exomes transversion A C A>C 0.000 -14.080 I Ile ATC 0.481 L Leu CTC 0.197 282 5 2 Chimp 2 2 2 0 0 5.II 4.IX 111 111 5 C0 245.67 0.00 Tolerated 0.8 IV.32 182 PASS . . . . . . . . . . . ENSG00000196436:ENST00000429990:exon7:c.A844C:p.I282L NPIPL2:uc010vmt.1:exon6:c.A661C:p.I221L NPIPB15:NM_001306094:exon7:c.A844C:p.I282L . . 0.11636364 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.027 . . 275.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|I282L|NPIPB15|mRNA|CODING|NM_001306094|NM_001306094.ex.7) . . . . . . . -1.0288 -0.917 -1.029 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196436 NPIPL2 NPIPB15 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.353 0.015 . . 37 . 0.081 . . 0.376 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.033 . . 0 0 0 0 0 0 . 0.090 . . 0.133 . . . . . . 0 0.010 . . . . . . . 0.345 . LowAF 0.94 . . . . . . . . . . . . . . . . . . . 1.000000 A6NHN6 . . . . . 0.009 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.428 . . . . . 1.000000 . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs773880033 16 74425492 C G - NPIPB15 34409 Nuclear pore complex interacting protein family, member B15 NM_001306094.1 1 1389 1332 NP_001293023.1 A6NHN6 substitution missense exon GRCh37 74425492 74425492 Chr16(GRCh37):g.74425492C>G 846 846 NM_001306094.1:c.846C>G p.Ile282Met p.Ile282Met 7 204 3' 90.4337 XI.63 0.960909 7.70782 90.4337 XI.63 0.960909 7.70782 0 rs773880033 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000032 1 0 0 0 0 1 0 0 0 245894 15298 33572 9850 17240 30778 111384 22296 5476 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 359 Exomes transversion C G C>G 0.000 -14.080 I Ile ATC 0.481 M Met ATG 1.000 282 5 2 Chimp 2 1 2 0 0 5.II 5.VII 111 105 10 C0 245.67 8.IX Tolerated 0.12 IV.32 178 PASS . . . . . . . . . . . ENSG00000196436:ENST00000429990:exon7:c.C846G:p.I282M NPIPL2:uc010vmt.1:exon6:c.C663G:p.I221M NPIPB15:NM_001306094:exon7:c.C846G:p.I282M . . 0.108474575 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.304 . @ . . . . . 1 0.388 . . 295.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atC/atG|I282M|NPIPB15|mRNA|CODING|NM_001306094|NM_001306094.ex.7) . . . . . . . -0.2557 -0.353 -0.256 c . . . . . 7.900e-06 . . . 0 1.11e-05 0 0 0 0 0 6.062e-05 0 9.471e-06 0 0 0 0 0 6.097e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196436 NPIPL2 NPIPB15 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.220 0.008 . . 37 . 0.329 . . 0.173 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.195 . . 0 0 0 0 0 0 . 0.435 . . 0.482 . . . . . . 0 0.506 . . . . . . . 0.369 . LowAF 0.13 rs773880033 . . . . . . . . . . . . . . . . . . 0.050000 A6NHN6 . . . . . 0.008 . . . 0 4.067e-06 0 0 0 0 0 0 3.249e-05 . . . . . . . . . . 0.558 . . . . . 0.050000 . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +rs771881108 16 74425498 G C - NPIPB15 34409 Nuclear pore complex interacting protein family, member B15 NM_001306094.1 1 1389 1332 NP_001293023.1 A6NHN6 substitution missense exon GRCh37 74425498 74425498 Chr16(GRCh37):g.74425498G>C 852 852 NM_001306094.1:c.852G>C p.Glu284Asp p.Glu284Asp 7 210 3' 90.4337 XI.63 0.960909 7.70782 90.4337 XI.63 0.960909 7.70782 0 transversion G C G>C 0.000 -14.080 E Glu GAG 0.583 D Asp GAC 0.539 284 5 2 Western lowland gorilla 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 174.65 0.00 Tolerated 0.56 III.86 175 PASS . . . . . . . . . . . ENSG00000196436:ENST00000429990:exon7:c.G852C:p.E284D NPIPL2:uc010vmt.1:exon6:c.G669C:p.E223D NPIPB15:NM_001306094:exon7:c.G852C:p.E284D . . 0.10273973 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.078 . @ . . . . . 1 0.597 . . 292.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E284D|NPIPB15|mRNA|CODING|NM_001306094|NM_001306094.ex.7) . . . . . . . -0.1177 -0.270 -0.118 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . . @ . . . . . . ENSG00000196436 NPIPL2 NPIPB15 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.166 0.006 . . 37 . 0.407 . . 0.235 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.429 . . 0 0 0 0 0 0 . 0.425 . . 0.448 . . . . . . 0 0.473 . . . . . . . 0.260 . LowAF 0.04 . . . . . . . . . . . . . . . . . . . 0.110000 A6NHN6 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . 0.110000 . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,180,255 +rs200596363 16 74446735 T C - CLEC18B 33849 C-type lectin domain family 18, member B NM_001011880.2 -1 1943 1368 NP_001011880.2 Q6UXF7 substitution synonymous exon GRCh37 74446735 74446735 Chr16(GRCh37):g.74446735T>C 720 720 NM_001011880.2:c.720A>G p.Gly240= p.Gly240Gly 6 616572 44 3' 78.9886 8.46368 0.555923 10.0929 78.9886 8.46368 0.555923 9.77298 0 Cryptic Acceptor Strongly Activated 74446720 1.90075 9.4e-05 70.5452 3.03884 0.000124 70.5452 Epidermal growth factor-like, type 3 Epidermal growth factor-like rs200596363 yes no Frequency 1 0.000000 0 0.007894 0.001646 0.003298 0.013161 0.000053 0.007025 0.010890 0.010058 0.008179 0.013161 2152 39 113 131 1 215 1349 252 52 272606 23700 34264 9954 18796 30606 123874 25054 6358 0.000103 0.000000 0.000058 0.000402 0.000000 0.000196 0.000113 0.000080 0.000000 14 0 1 2 0 3 7 1 0 2124 39 111 127 1 209 1335 250 52 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8503 4389 12892 49 5 54 0.00572965 0.00113792 0.00417117 0.00572965 0.00113792 0.00417117 40 transition A G A>G 0.976 -0.279 G Gly GGA 0.246 G Gly GGG 0.250 240 213 PASS . . . . . . . . . . . ENSG00000140839:ENST00000339953:exon6:c.A720G:p.G240G . CLEC18B:NM_001011880:exon6:c.A720G:p.G240G . . 0.1918736 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 443.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggG|G240|CLEC18B|mRNA|CODING|NM_001011880|NM_001011880.ex.6) 0.0011 0.0042 0.0057 0.0011 0.0042 0.0057 . 0.1480 . . . . . . . . 9.547e-03 . . . 0.0017 0.0087 0.0029 0.0004 0.0159 0.0126 0.0048 0.0090 0.0018 0.0100 0.0028 0 0.0150 0.0141 0.0064 0.0089 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.32 182 ENSG00000140839 CLEC18B CLEC18B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200596363 . . . . . . . . . . . . . . . . . . . . . . . 0.004171 . . . . . 0.0016 0.0081 0.0034 0.0127 5.823e-05 0.0100 0.0111 0.0089 0.0070 0.0017 0.0066 0 0.0280 0 0.0104 0.0094 0.0041 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . 0.0057 . . rs200596363 rs200596363 1 1538 10 1/0 0,170,246 +rs369010440 16 75575269 C T - TMEM231 37234 Transmembrane protein 231 NM_001077416.2 -1 3002 1110 NP_001070884.2 substitution missense exon GRCh37 75575269 75575269 Chr16(GRCh37):g.75575269C>T 908 908 NM_001077416.2:c.908G>A p.Arg303Gln p.Arg303Gln 5 614949 -22 5' 0 0 0 0 0 0 0 0 0 Transmembrane protein 231 rs369010440 yes no Frequency 1 C 0.000000 0 0.000091 0.000084 0.000000 0.000000 0.000053 0.000000 0.000167 0.000039 0.000000 0.000167 25 2 0 0 1 0 21 1 0 274936 23860 33624 10128 18692 30388 126096 25764 6384 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 23 2 0 0 1 0 19 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8339 3914 12253 1 0 1 0.000119904 0 8.1606e-05 0.000119904 0 8.1606e-05 68 transition G A G>A 0.992 2.627 R Arg CGA 0.110 Q Gln CAA 0.256 303 12 10 Tetraodon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 111.26 16.48 Tolerated 0.16 III.36 255 PASS . . . . . . . . . . . . . . . . 0.4473684 . . @ 17 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.781 . @ . . . . . 1 0.998 . . 38.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.4321 0.410 0.432 c . . . . . 1.120e-04 . . . 0 9.004e-05 0 0.0002 0 0.0002 0 0 0 7.66e-05 0 0.0001 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.631 . . exonic exonic exonic . . 0.526 @ . . . 0.29 0.5 182 ENSG00000205084 TMEM231 TMEM231 . . . 0.741 0.232 . 7 0.000107732 64976 7 0.000116694 59986 Uncertain_significance . 0 . 0.368 . . . . T 0.463 0.023 . . 37 . 0.700 . . 0.692 . . . 0.745 0.520 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.433 . . 0 0 0 0 0 0 . 0.715 . . 0.628 . . . . . . 0 0.416 . . . . . 0.450 . 0.462 . HET 0.1 rs369010440 . . . . . . . . . . . . X.51 0.0 . IV.42 IV.42 . 0.180000 . . . . 0.000082 . 0.472 . . IV.42 0 7.786e-05 0 0 5.858e-05 4.49e-05 0.0002 0 0 0.0002 0.0002 0 0 0 0 0.0003 0 . . 0.495 . 2.166 2.166000 . . 0.180000 . . 1.0E-255 0.569 0.273 . 0.222 0.812 . 0.318 . 0.052 2.166 0.871 0.0001 . . rs369010440 rs369010440 1 1538 10 1/0 0,255,255 +rs200952997 16 77468558 G C - ADAMTS18 17110 ADAM metallopeptidase with thrombospondin type 1 motif 18 NM_199355.3 -1 5913 3666 NP_955387.1 Q8TE60 substitution missense exon GRCh37 77468558 77468558 Chr16(GRCh37):g.77468558G>C 35 35 NM_199355.3:c.35C>G p.Pro12Arg p.Pro12Arg 1 607512 -56 5' 90.0253 0 0 0 90.0253 0 0 0 0 rs200952997 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.001797 0.000000 0.004100 0.000000 0.005000 0.000000 0.007130 0.001853 0.001596 0.012900 0.000167 0.001937 0.010260 0.017241 0.007593 0.017241 835 18 27 91 1 34 493 145 26 117114 9712 16916 7054 5994 17552 48052 8410 3424 0.000137 0.000000 0.000000 0.000284 0.000000 0.000000 0.000208 0.000238 0.000584 8 0 0 1 0 0 5 1 1 819 18 27 89 1 34 483 143 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000440708.1 germline clinical testing Likely benign 1 not provided transversion C G C>G 0.016 1.013 P Pro CCG 0.115 R Arg CGG 0.207 12 12 7 Fruitfly -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Tolerated 0.37 III.45 255 PASS . . . . . . 0.0018 . . 0.005 0.0041 . ADAMTS18:uc002ffc.4:exon1:c.C35G:p.P12R ADAMTS18:NM_199355:exon1:c.C35G:p.P12R . . 0.35135135 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.058 . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P12R|ADAMTS18|mRNA|CODING|NM_199355|NM_199355.ex.1) . . . . . . . -1.0440 -0.975 -1.044 c . . . . . 2.154e-03 . . . 0 0.0038 0 0 . 0.0116 0 0.0012 0 0.0037 0 0 . 0.0118 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.583 . . exonic exonic exonic . . 0.342 0.0018 . . . 0.41 0.49 182 ENSG00000140873 ADAMTS18 ADAMTS18 . . . 1.000 0.747 . 308 0.00474021 64976 300 0.00500117 59986 Uncertain_significance . 0 . 0.079 . . . . . . . . . 37 . 0.319 . . 0.117 . . . 0.112 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.057 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.413 . 0.208 . HET 0.84 rs200952997 . . . . . . . . . . . . 10.0617 0.0 . 4.III 3.VI . 0.920000 Q8TE60 . . Name\x3dnsv906957 . . 0.178 . . 3.VI 0 0.0063 0.0016 0.0129 0.0002 0.0184 0.0089 0.0053 0.0019 0.0021 0.0093 0.0013 0.0132 0 0.0156 0.0132 0.0133 . . 0.088 . 0.665 0.665000 . . 0.920000 . . 1.0E-255 0.057 0.215 . 0.327 0.198 . 0.339 . 0.140 0.665 -0.588 . . . rs200952997 rs200952997 1 1538 10 1/0 0,255,255 +. 16 77822856 T G - VAT1L 29315 Vesicle amine transport 1-like NM_020927.2 1 3791 1260 NP_065978.1 Q9HCJ6 substitution intron GRCh37 77822856 77822856 Chr16(GRCh37):g.77822856T>G 233+44 233+44 NM_020927.2:c.233+44T>G p.? p.? 1 1 44 5' 53.6508 0 0.000938 0 53.6508 0 0.000938 0 0 transversion T G T>G 0.488 0.770 201 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||VAT1L|mRNA|CODING|NM_020927|) . . . . . . . I.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000171724 VAT1L VAT1L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv457543 . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs755606193 16 84056413 A G - SLC38A8 32434 Solute carrier family 38, member 8 NM_001080442.2 -1 1425 1308 NP_001073911.1 A6NNN8 substitution synonymous exon GRCh37 84056413 84056413 Chr16(GRCh37):g.84056413A>G 772 772 NM_001080442.2:c.772T>C p.Leu258= p.Leu258Leu 6 615585 -34 5' 86.0205 10.169 0.996261 8.03247 86.0205 10.169 0.996261 8.50733 0 Amino acid transporter, transmembrane rs755606193 yes no Frequency 1 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 245906 15264 33562 9838 17230 30776 111474 22278 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Exomes transition T C T>C 0.992 -0.037 L Leu TTG 0.127 L Leu CTG 0.404 258 255 PASS . . . . . . . . . . . . SLC38A8:uc002fhg.1:exon6:c.T772C:p.L258L SLC38A8:NM_001080442:exon6:c.T772C:p.L258L . . 0.5 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 80.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L258|SLC38A8|mRNA|CODING|NM_001080442|NM_001080442.ex.6) . . . . . . . 0.8414 . . . . . . . . 7.893e-06 . . . 0 1.119e-05 0 0 0 2.417e-05 0 0 0 9.506e-06 0 0 0 1.856e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000166558 SLC38A8 SLC38A8 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755606193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.067e-06 0 0 0 0 8.971e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 16 84063320 A ATGGAAG - SLC38A8 32434 Solute carrier family 38, member 8 NM_001080442.2 -1 1425 1308 NP_001073911.1 A6NNN8 insertion intron GRCh37 84063320 84063321 Chr16(GRCh37):g.84063320_84063321insTGGAAG 633-165 633-164 NM_001080442.2:c.633-165_633-164insCTTCCA p.? p.? 5 4 615585 -164 3' 90.0147 X.86 0.966985 9.90263 90.0147 X.86 0.966985 9.90263 0 CTTCCA 255 Pass . . . . . . . . . . . . . . . . 0.42857143 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56 . . INTRON(MODIFIER||||SLC38A8|mRNA|CODING|NM_001080442|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000166558 SLC38A8 SLC38A8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,37 +rs139599059 16 84438519 C G - ATP2C2 29103 ATPase, Ca++ transporting, type 2C, member 2 NM_001286527.2 1 3476 2928 NP_001273456.2 substitution intron GRCh37 84438519 84438519 Chr16(GRCh37):g.84438519C>G 211-215 211-215 NM_001286527.2:c.211-215C>G p.? p.? 3 2 613082 -215 3' 89.093 12.302 0.980022 X.72 89.093 12.302 0.980022 X.72 0 rs139599059 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.002000 0.000000 0.006000 0.001400 0.002706 0.000396 0.001380 0.005253 0.000000 0.004058 0.001783 0.013889 0.004530 0.013889 439 6 34 44 0 92 118 124 21 162206 15160 24644 8376 11600 22674 66188 8928 4636 0.000049 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000448 0.000431 4 0 0 0 0 1 0 2 1 431 6 34 44 0 90 118 120 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 -0.279 255 PASS . 0.0023 0.0028 . 0.01 . 0.0018 0.0014 . 0.006 0.002 . ATP2C2:uc002fhy.3:exon1:c.C47G:p.S16C . . . 0.34210527 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . -0.1420 . . . . . . . . 2.081e-03 . . . 0 0.0041 0 0 0.05 0.0034 0.0197 0.0046 0 0.0042 0 0 0.05 0.0027 0.0254 0.0047 . nonsynonymous_SNV . . . . intronic exonic intronic . . . 0.0018 . . . 0.43 0.37 182 ENSG00000064270 ATP2C2 ATP2C2 . . . . . . 172 0.00264713 64976 163 0.0027173 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs139599059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0027 0.0013 0.0054 0 0.0140 0.0017 0.0041 0.0041 0.0003 0.0029 0.0024 0 0 0.0137 0.0021 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs139599059 rs139599059 1 1538 10 1/0 0,255,255 +. 16 88066625 G A - BANP 13450 BTG3 associated nuclear protein NM_001173543.1 1 2438 1560 NP_001167014.1 Q8N9N5 substitution intron GRCh37 88066625 88066625 Chr16(GRCh37):g.88066625G>A 1040-90 1040-90 NM_001173543.1:c.1040-90G>A p.? p.? 9 8 611564 -90 3' 82.877 9.95093 0.792321 XII.28 82.877 9.95093 0.792321 XII.28 0 rs957658613 yes no Frequency 1 G 0.000000 0 0.000258 0.000229 0.000000 0.000000 0.000000 0.000000 0.000400 0.000000 0.000000 0.000400 8 2 0 0 0 0 6 0 0 30954 8722 838 302 1622 0 14994 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 2 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -1.974 255 PASS . . . . . . . . . . . . . . . . 0.35416666 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172530 BANP BANP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs76389306 16 88500957 C T - ZNF469 23216 Zinc finger protein 469 NM_001127464.2 1 13203 11778 NP_001120936.2 Q96JG9 substitution missense exon GRCh37 88500957 88500957 Chr16(GRCh37):g.88500957C>T 6995 6995 NM_001127464.2:c.6995C>T p.Pro2332Leu p.Pro2332Leu 2 612078 3816 3' 0 0 0.000199 0 0 0 0.000199 0 0 rs76389306 yes no Frequency/1000G 2 C uncertain_significance,likely_benign 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.001932 0.000633 0.002706 0.001538 0.000000 0.000789 0.002996 0.000594 0.002731 0.002996 342 10 67 13 0 18 210 11 13 176994 15794 24762 8450 11800 22814 70096 18518 4760 0.000011 0.000000 0.000081 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 340 10 65 13 0 18 210 11 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000428390.1|RCV000384522.1 germline|germline clinical testing|clinical testing Likely benign|VUS 1|1 not specified|Corneal fragility keratoglobus, blue sclerae AND joint hypermobility transition C T C>T 0.000 0.125 P Pro CCG 0.115 L Leu CTG 0.404 2332 12 8 Chicken -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0.03 III.26 255 PASS . 0.0023 0.0028 . 0.01 . 0.0014 0.0029 . 0.005 . . ZNF469:uc002fku.2:exon2:c.C6995T:p.P2332L ZNF469:NM_001127464:exon2:c.C6995T:p.P2332L . . 0.47115386 . . germline 49 . . 1.2.2016 0 0 0 0 1 0 0 0 0 1 0 0 . . . . . . 0.054 . Uncertain//\@significance Uncertain_significance RCV000384522.1 . MedGen:OMIM:SNOMED_CT C0268344:229200:31798004 1 0.014 . . 104.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P2332L|ZNF469|mRNA|CODING|NM_001127464|NM_001127464.ex.2) . . . . . . . -1.1934 -1.208 -1.193 c . . . . . 9.302e-04 . . . 0 0.0017 0.0029 0 0 0.0033 0 0.0009 0 0.0014 0.0037 0 0 0.0029 0 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.164 0.0014 . . . 0.17 0.37 182 ENSG00000225614 ZNF469 ZNF469 . . . 0.099 0.163 . 121 0.00186223 64976 115 0.00191711 59986 Likely_benign . 0 . . . . . . D 0.977 0.710 . . 37 . 0.189 . . 0.191 . . . 0.145 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.205 . . 0.133 . . . . . . 0 0.912 . . . . . 0.070 . 0.134 . HET 0 rs76389306 . . . . . . . 0.0022893772893772895 0.0 0.0027624309392265192 0.0 0.005277044854881266 III.03 0.001445 ENST00000437464 3.IX 0.555 . 0.010000 Q96JG9 . . . . . 0.151 . . . 0.0008 0.0019 0.0026 0.0016 0 0.0005 0.0029 0.0032 0.0008 0.0005 0.0021 0.0048 0 0 0.0011 0.0034 0.0010 . . 0.450 . 0.764 0.764000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.062 0.010 . 0.137 . 0.129 0.764 0.598 0.01 . . rs76389306 rs76389306 1 1538 10 1/0 0,255,255 +. 16 88599699 CCTCTGG C - ZFPM1 19762 Zinc finger protein, multitype 1 NM_153813.2 1 3241 3021 NP_722520.2 Q8IX07 deletion in-frame exon GRCh37 88599701 88599706 Chr16(GRCh37):g.88599701_88599706del 1335 1340 NM_153813.2:c.1335_1340del p.Leu446_Ala447del p.Leu446_Ala447del 10 601950 146 3' 84.5852 XI.58 0.577154 9.18451 84.5852 XI.58 0.577154 9.18451 0 rs149145771 yes no Frequency/1000G 2 0.000000 0 0.001202 0.000000 0.000000 0.000000 0.000000 0.005051 0.000000 0.000000 0.000000 0.005051 1 0 0 0 0 1 0 0 0 832 488 86 2 36 198 14 0 8 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 1564 Exomes TCTGGC 255 Pass 0.9 0.97 0.97 0.98 1. . . . . . . ENSG00000179588:ENST00000319555:exon10:c.1334_1339del:p.445_447del ZFPM1:uc002fkv.3:exon10:c.1334_1339del:p.445_447del ZFPM1:NM_153813:exon10:c.1334_1339del:p.445_447del . . 0.96428573 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 28 . . CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cctctggcc/ccc|PLA445P|ZFPM1|mRNA|CODING|NM_153813|NM_153813.ex.10) 0.87 0.95 1. . . . . . . . . . . . . . 1.368e-03 . . . 0 0 0 . . 0 . 0 0 0 0 0 . 0 . 0 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000179588 ZFPM1 ZFPM1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs149145771 . . . . . . . . . . . . . . . . . . . . . . . 0.951118 . . . . . 0 0.0012 0 0 0 . 0 0 0.0051 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs149145771 rs149145771 1 1538 255 1.I 0,0,255 +rs13306294 16 88712731 C T - CYBA 2577 Cytochrome b-245, alpha polypeptide NM_000101.3 -1 723 588 NP_000092.2 P13498 substitution intron GRCh37 88712731 88712731 Chr16(GRCh37):g.88712731C>T 288-126 288-126 NM_000101.3:c.288-126G>A p.? p.? 5 4 608508 -126 3' 81.476 8.17081 0.94209 XI.88 81.476 8.17081 0.94209 XI.88 0 rs13306294 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.000245 0.000278 0.000000 0.000000 0.000719 0.000000 0.000237 0.000000 0.000000 0.000719 5 2 0 0 1 0 2 0 0 20408 7184 532 178 1390 0 8428 2088 608 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 78 Genomes transition G A G>A 0.000 -1.167 248 PASS 0.09 0.2 0.23 0.18 0.28 . . . . . . . . . . . 0.30107528 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . INTRON(MODIFIER||||CYBA|mRNA|CODING|NM_000101|) . . . . . . . 0.2612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . @ . . . 0.38 0.27 182 ENSG00000051523 CYBA CYBA . uc010chx.2:c.*428G>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs13306294 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0 0 0.0007 0 0.0002 0 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.28 rs13306294 rs13306294 rs13306294 rs13306294 1 1538 10 1/0 0,248,255 +rs12926425 16 88712733 C T - CYBA 2577 Cytochrome b-245, alpha polypeptide NM_000101.3 -1 723 588 NP_000092.2 P13498 substitution intron GRCh37 88712733 88712733 Chr16(GRCh37):g.88712733C>T 288-128 288-128 NM_000101.3:c.288-128G>A p.? p.? 5 4 608508 -128 3' 81.476 8.17081 0.94209 XI.88 81.476 8.17081 0.94209 XI.88 0 rs12926425 yes no Frequency/1000G 2 C 0.000000 0 transition G A G>A 0.000 0.448 229 PASS . . . . . . . . . . . . . . . . 0.23958333 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . INTRON(MODIFIER||||CYBA|mRNA|CODING|NM_000101|) . . . . . . . 0.5035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR3 intronic . . . @ . . . 0.32 0.26 182 ENSG00000051523 CYBA CYBA . uc010chx.2:c.*426G>A . . . . 17458 0.268684 64976 16509 0.275214 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12926425 0.217 0.210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . 0.22 rs12926425 rs12926425 rs12926425 rs12926425 1 1538 10 1/0 0,241,255 +rs568280615 16 88798310 G T - PIEZO1 28993 Piezo type mechanosensitive ion channel component 1 NM_001142864.3 -1 8089 7566 NP_001136336.2 Q92508 substitution missense exon GRCh37 88798310 88798310 Chr16(GRCh37):g.88798310G>T 3000 3000 NM_001142864.3:c.3000C>A p.Phe1000Leu p.Phe1000Leu 22 611184 9 3' 80.6605 XI.86 0.988144 17.5884 80.6605 XI.86 0.98388 17.221 -0.00143839 rs568280615 yes no Frequency/1000G 2 G 0.000200 A 1 0.000278 0.000154 0.000000 0.000000 0.000000 0.000132 0.000613 0.000057 0.000000 0.000613 47 2 0 0 0 3 41 1 0 169214 13000 24632 8434 11280 22780 66916 17594 4578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 2 0 0 0 3 41 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 1.000 3.353 F Phe TTC 0.546 L Leu TTA 0.073 1000 12 9 Zebrafish 1 0 0 0 0 5.II 4.IX 132 111 22 C0 245.76 IV.86 Tolerated 0.37 II.97 255 PASS . . . . . . . . . . . ENSG00000103335:ENST00000301015:exon22:c.C3000A:p.F1000L . PIEZO1:NM_001142864:exon22:c.C3000A:p.F1000L . . 0.7083333 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.602 . @ . . . . . 1 0.826 . . 48.0 . . . . . . . . . . 0.0797 0.127 0.080 c . . . . . 1.485e-04 . . . 0 0.0003 0 0 0 0.0006 0 0.0001 0 0.0001 0 0 0 0.0003 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.717 . . exonic exonic exonic . . 0.492 0.0002 . . . . . . ENSG00000103335 PIEZO1 PIEZO1 . . . 1.000 0.747 . 149 0.00229315 64976 149 0.00248391 59986 Uncertain_significance . 0 . 0.537 . . . . D 0.951 0.500 . . 37 . 0.599 . . 0.578 . . . 0.410 0.451 . . . . 0 1 0 0 0 0 0 1 0 0 0 0.632 . . 0 0 0 0 0 0 . 0.715 . . 0.774 . . . . . . 1 0.087 . . . . . 0.836 . 0.621 . HET 1 rs568280615 . . . . . . . . . . . . 16.4295 . ENST00000451779 IV.23 IV.23 . 0.430000 Q92508 . . . . . 0.462 . . IV.23 0.0003 0.0003 0 0 0 6.658e-05 0.0007 0 0.0001 0 0.0002 0 0 0 0 0.0004 0 . . 0.522 . 2.227 2.227000 . . 0.430000 . . 1.0E-255 1.000 0.715 . 0.625 1.000 . 0.257 . 0.193 2.227 0.917 . . . . . 1 1538 10 1/0 0,255,255 +. 16 88803151 C G - PIEZO1 28993 Piezo type mechanosensitive ion channel component 1 NM_001142864.3 -1 8089 7566 NP_001136336.2 Q92508 substitution splice site GRCh37 88803151 88803151 Chr16(GRCh37):g.88803151C>G 1196-4 1196-4 NM_001142864.3:c.1196-4G>C p.? p.? 11 10 611184 -4 3' 76.3328 10.0839 0.458952 9.40118 76.3328 9.74713 0.454416 8.58856 -0.0144261 rs946453254 no no 0 C 0.000000 0 0.000097 0.000000 0.000000 0.000000 0.000000 0.000047 0.000188 0.000241 0.000000 0.000241 15 0 0 0 0 1 12 2 0 154450 15488 22390 7698 10916 21424 63870 8302 4362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 0 0 0 0 1 12 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.4893617 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . -0.0884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000224888 AK294743 LOC100289580 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 9.716e-05 0 0 0 0.0004 0.0002 0 4.668e-05 0 9.697e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs35146933 16 89262419 G A - CDH15 1754 Cadherin 15, type 1, M-cadherin (myotubule) NM_004933.2 1 2859 2445 NP_004924.1 P55291 substitution downstream GRCh37 89262419 89262419 Chr16(GRCh37):g.89262419G>A *856 *856 NM_004933.2:c.*856G>A p.? p.? 14 114019 1150 3' 77.911 8.78564 0.961716 6.39067 77.911 8.78564 0.961716 6.39067 0 rs35146933 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.000000 0.000000 0.010900 0.001400 0.004149 0.000883 0.001742 0.000000 0.000000 0.000000 0.007971 0.008524 0.004587 0.008524 595 13 40 0 0 0 461 62 19 143410 14730 22962 6464 11372 18634 57832 7274 4142 0.000042 0.000000 0.000087 0.000000 0.000000 0.000000 0.000035 0.000275 0.000000 3 0 1 0 0 0 1 1 0 589 13 38 0 0 0 459 60 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.551 1.335 255 PASS . 0.0027 . . 0.01 0.0008 0.0026 0.0014 . 0.011 . ENSG00000259803:ENST00000562855:exon10:c.C1659T:p.P553P SLC22A31:uc021tmr.1:exon8:c.C1005T:p.P335P SLC22A31:NM_001242757:exon8:c.C1005T:p.P335P . . 0.5416667 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.5873 . . . . . . . . 1.102e-03 . . . 0 0.0015 0 0 0 0.0038 0 0 0 0.0005 0 0 0 0.0023 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.35 0.36 182 ENSG00000259803 SLC22A31 SLC22A31 . . . . . . 380 0.00584831 64976 368 0.00613476 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35146933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0035 0.0017 0 0 0.0071 0.0072 0.0032 0 0.0006 0.0065 0.0024 0 0 0.0100 0.0101 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs35146933 rs35146933 rs35146933 rs35146933 1 1538 10 1/0 0,255,255 +rs35146933 16 89262419 G A - SLC22A31 27091 Solute carrier family 22, member 31 NM_001242757.1 -1 1860 1017 NP_001229686.1 substitution synonymous exon GRCh37 89262419 89262419 Chr16(GRCh37):g.89262419G>A 1005 1005 NM_001242757.1:c.1005C>T p.Pro335= p.Pro335Pro 8 295 3' 84.795 7.34308 0.842134 9.78707 84.795 7.34308 0.842134 9.78707 0 rs35146933 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000800 0.000000 0.000000 0.010900 0.001400 0.004149 0.000883 0.001742 0.000000 0.000000 0.000000 0.007971 0.008524 0.004587 0.008524 595 13 40 0 0 0 461 62 19 143410 14730 22962 6464 11372 18634 57832 7274 4142 0.000042 0.000000 0.000087 0.000000 0.000000 0.000000 0.000035 0.000275 0.000000 3 0 1 0 0 0 1 1 0 589 13 38 0 0 0 459 60 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.551 1.335 P Pro CCC 0.328 P Pro CCT 0.283 335 255 PASS . 0.0027 . . 0.01 0.0008 0.0026 0.0014 . 0.011 . ENSG00000259803:ENST00000562855:exon10:c.C1659T:p.P553P SLC22A31:uc021tmr.1:exon8:c.C1005T:p.P335P SLC22A31:NM_001242757:exon8:c.C1005T:p.P335P . . 0.5416667 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . 0.5873 . . . . . . . . 1.102e-03 . . . 0 0.0015 0 0 0 0.0038 0 0 0 0.0005 0 0 0 0.0023 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.35 0.36 182 ENSG00000259803 SLC22A31 SLC22A31 . . . . . . 380 0.00584831 64976 368 0.00613476 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs35146933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0035 0.0017 0 0 0.0071 0.0072 0.0032 0 0.0006 0.0065 0.0024 0 0 0.0100 0.0101 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs35146933 rs35146933 rs35146933 rs35146933 1 1538 10 1/0 0,255,255 +rs75637955 16 89287614 A T - ZNF778 26479 Zinc finger protein 778 NM_001201407.1 1 3608 2274 NP_001188336.1 substitution intron GRCh37 89287614 89287614 Chr16(GRCh37):g.89287614A>T 25+54 25+54 NM_001201407.1:c.25+54A>T p.? p.? 2 2 54 5' 90.7791 XI.65 0.997729 9.74597 90.7791 XI.65 0.997729 9.78967 0 Cryptic Acceptor Strongly Activated 89287628 2.78368 0.056262 7.06397 0.176475 81.2059 rs75637955 no no 0 A 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30760 8636 838 298 1596 0 14922 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion A T A>T 0.071 -0.440 247 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.4822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.05 182 ENSG00000170100 ZNF778 ZNF778 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75637955 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.251e-05 0 0 0 0 6.702e-05 0 . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . 0.011 . . rs75637955 rs75637955 1 1538 10 1/0 0,255,255 +rs34607200 (chr16:89299575 A/T) 16 89299575 A T Not on a known gene +rs62068543 (chr16:89299598 A/T) 16 89299598 A T Not on a known gene +rs878864180 16 89334847 G A - ANKRD11 21316 Ankyrin repeat domain 11 NM_001256182.1 -1 9381 7992 NP_001243111.1 Q6UB99 substitution 3'UTR GRCh37 89334847 89334847 Chr16(GRCh37):g.89334847G>A *39 *39 NM_001256182.1:c.*39C>T p.? p.? 14 611192 225 3' 81.5189 XI.85 0.807738 19.271 81.5189 XI.85 0.807738 19.271 0 Cryptic Acceptor Strongly Activated 89334836 0.171754 0.012402 69.3054 1.33591 0.025979 73.4073 rs878864180 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 99602 5820 22478 5108 9872 15224 33558 4622 2920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 65 Exomes transition C T C>T 0.000 -0.360 210 PASS . . . . . . . . . . . ENSG00000268218:ENST00000602042:exon1:c.G329A:p.R110H . . . . 0.18446602 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.0974 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic UTR3 . . . @ . . . 0.51 0.74 182 ENSG00000268218 AX747440 ANKRD11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . rs3747472 rs3747472 rs3747472 rs3747472 1 1538 10 1/0 0,233,255 +rs763364497 16 89784469 C T - VPS9D1 13526 VPS9 domain containing 1 NM_004913.2 -1 2749 1896 NP_004904.2 Q9Y2B5 substitution intron GRCh37 89784469 89784469 Chr16(GRCh37):g.89784469C>T 175+966 175+966 NM_004913.2:c.175+966G>A p.? p.? 2 2 966 5' 83.8893 X.72 0.994331 8.45916 83.8893 X.72 0.994331 8.45916 0 rs763364497 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 129024 6188 23720 8048 9916 22206 50094 5246 3606 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 93 Exomes transition G A G>A 0.543 1.577 180 PASS . . . . . . . . . . . . . . . . 0.11363637 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 176.0 . . . . . . . . . . -0.1568 . . . . . . . . 1.199e-03 . . . 0 0.0020 0 0 0 0.0003 0 0.0031 0 0.0022 0 0 0 0.0004 0 0.0031 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000261373 LOC100128881 VPS9D1-AS1 . uc002foo.1:c.*29C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs763364497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +rs763364497 16 89784469 C T - VPS9D1-AS1 48915 VPS9D1 antisense RNA 1 NR_036480.1 1 1753 0 substitution exon GRCh37 89784469 89784469 Chr16(GRCh37):g.89784469C>T 1649 1649 NR_036480.1:n.1649C>T 4 718 3' 80.7367 5.43644 0.544542 IV.94 80.7367 5.43644 0.544542 IV.94 0 rs763364497 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 129024 6188 23720 8048 9916 22206 50094 5246 3606 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 93 Exomes transition C T C>T 0.543 1.577 180 PASS . . . . . . . . . . . . . . . . 0.11363637 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 176.0 . . . . . . . . . . -0.1568 . . . . . . . . 1.199e-03 . . . 0 0.0020 0 0 0 0.0003 0 0.0031 0 0.0022 0 0 0 0.0004 0 0.0031 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000261373 LOC100128881 VPS9D1-AS1 . uc002foo.1:c.*29C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs763364497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +. 16 89784471 CT C - VPS9D1 13526 VPS9 domain containing 1 NM_004913.2 -1 2749 1896 NP_004904.2 Q9Y2B5 deletion intron GRCh37 89784472 89784472 Chr16(GRCh37):g.89784472del 175+963 175+963 NM_004913.2:c.175+963del p.? p.? 2 2 963 5' 83.8893 X.72 0.994331 8.45916 83.8893 X.72 0.994331 8.45916 0 rs752637979 yes no Frequency 1 T 0.000000 0 0.000032 0.000281 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000281 5 4 1 0 0 0 0 0 0 158342 14242 24444 8344 11454 22190 64854 8264 4550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.1329114 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 158 . . . . . . . . . . . . . . . . . . . 1.905e-03 . . . 0.0093 0.0027 0 0 0 0.0006 0 0.0034 0.0174 0.0029 0 0 0 0.0007 0 0.0034 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . . . . . . . . ENSG00000261373 LOC100128881 VPS9D1-AS1 . uc002foo.1:c.*32delT . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 3.125e-05 4.236e-05 0 0 0 0 0 0 0.0001 3.295e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,88 +. 16 89784471 CT C - VPS9D1-AS1 48915 VPS9D1 antisense RNA 1 NR_036480.1 1 1753 0 deletion exon GRCh37 89784472 89784472 Chr16(GRCh37):g.89784472del 1652 1652 NR_036480.1:n.1652del 4 721 3' 80.7367 5.43644 0.544542 IV.94 80.7367 5.43644 0.544542 IV.94 0 rs752637979 yes no Frequency 1 T 0.000000 0 0.000032 0.000281 0.000041 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000281 5 4 1 0 0 0 0 0 0 158342 14242 24444 8344 11454 22190 64854 8264 4550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.1329114 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 158 . . . . . . . . . . . . . . . . . . . 1.905e-03 . . . 0.0093 0.0027 0 0 0 0.0006 0 0.0034 0.0174 0.0029 0 0 0 0.0007 0 0.0034 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . . . . . . . . ENSG00000261373 LOC100128881 VPS9D1-AS1 . uc002foo.1:c.*32delT . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 3.125e-05 4.236e-05 0 0 0 0 0 0 0.0001 3.295e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,88 +rs555019210 16 89882887 G A - FANCA 3582 Fanconi anemia complementation group A NM_000135.3 -1 5463 4368 NP_000126.2 O15360 substitution intron GRCh37 89882887 89882887 Chr16(GRCh37):g.89882887G>A 79+58 79+58 NM_000135.3:c.79+58C>T p.? p.? 1 1 607139 58 5' 76.8306 6.85751 0.808456 9.99778 76.8306 6.85751 0.808456 10.1402 0 rs555019210 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.003100 0.000000 0.001000 0.002900 0.002833 0.000213 0.000598 0.000000 0.000000 0.006624 0.003220 0.005366 0.000754 0.006624 254 2 7 0 0 86 119 38 2 89654 9370 11710 5086 3806 12984 36962 7082 2654 0.000022 0.000000 0.000000 0.000000 0.000000 0.000154 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 252 2 7 0 0 84 119 38 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.008 -0.279 255 PASS . . . . . . 0.0012 0.0029 . 0.001 0.0031 ENSG00000187741:ENST00000567943:exon1:c.C137T:p.P46L . . . . 0.36 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . I.34 . . . . . . . . 2.225e-03 . . . 0 0.0122 0 0 . 0.0017 0 0.0148 0 0.0121 0 0 . 0.0017 0 0.0148 nonsynonymous_SNV . . . . . exonic intronic intronic . . . 0.0012 . . . . . . ENSG00000187741 FANCA FANCA . . . . . . 114 0.00175449 64976 106 0.00176708 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs555019210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0031 0.0006 0 0 0.0056 0.0030 0.0012 0.0066 0.0002 0.0023 0 0 0 0.0051 0.0035 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs76646627 16 90095558 C T - GAS8 4166 Growth arrest-specific 8 NM_001481.2 1 3185 1437 NP_001472.1 O95995 substitution intron GRCh37 90095558 90095558 Chr16(GRCh37):g.90095558C>T 90+1428 90+1428 NM_001481.2:c.90+1428C>T p.? p.? 2 2 605178 1428 5' 89.8591 9.60237 0.981371 X.02 89.8591 9.60237 0.981371 X.02 0 rs76646627 yes no Frequency 1 C 0.000000 0 0.000056 0.000545 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000198 0.000545 11 10 0 0 0 0 0 0 1 197772 18332 25228 8744 12250 24002 84656 19498 5062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 10 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258 Thyroid|Salivary gland|Oesophagus|Lung|Liver|Large intestine|Haematopoietic and lymphoid tissue|Cervix|Central nervous system 0.001339|0.012658|0.002135|0.000419|0.000844|0.001345|0.000283|0.006079|0.000416 747|79|1405|2388|2371|2231|3530|329|2405 transition C T C>T 0.000 -0.360 177 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.G193A:p.G65S C16orf3:uc002fqk.1:exon1:c.G193A:p.G65S . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 122.0 . . . . . . . . . . -1.2537 . . . . . . . . . . . . 0.0019 0.0002 0 0 0 0 0 0 0.0020 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.2 0.06 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . LowAF . rs76646627 . . . . . . . . . . . . II.36 0.005099 ENST00000408886 1.II -1.14 . . O95177 . . . . . . . . . 0.0007 4.755e-05 0 0 0 0 0 0.0002 0 0.0004 0.0001 0 0 0 0 0 0 . . . . -0.326 -0.326000 . . . . . 1.0E-177 . . . . . . . . . -0.326 . . . . rs76646627 rs76646627 1 1538 10 1/0 0,218,255 +rs76646627 16 90095558 C T - GAS8-AS1 1197 GAS8 antisense RNA 1 NR_122031.1 -1 994 0 substitution exon GRCh37 90095558 90095558 Chr16(GRCh37):g.90095558C>T 752 752 NR_122031.1:n.752G>A 1 605179 rs76646627 yes no Frequency 1 C 0.000000 0 0.000056 0.000545 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000198 0.000545 11 10 0 0 0 0 0 0 1 197772 18332 25228 8744 12250 24002 84656 19498 5062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 10 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258|COSM705258 Thyroid|Salivary gland|Oesophagus|Lung|Liver|Large intestine|Haematopoietic and lymphoid tissue|Cervix|Central nervous system 0.001339|0.012658|0.002135|0.000419|0.000844|0.001345|0.000283|0.006079|0.000416 747|79|1405|2388|2371|2231|3530|329|2405 transition G A G>A 0.000 -0.360 177 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.G193A:p.G65S C16orf3:uc002fqk.1:exon1:c.G193A:p.G65S . . . 0.10655738 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 122.0 . . . . . . . . . . -1.2537 . . . . . . . . . . . . 0.0019 0.0002 0 0 0 0 0 0 0.0020 0.0002 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.2 0.06 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . LowAF . rs76646627 . . . . . . . . . . . . II.36 0.005099 ENST00000408886 1.II -1.14 . . O95177 . . . . . . . . . 0.0007 4.755e-05 0 0 0 0 0 0.0002 0 0.0004 0.0001 0 0 0 0 0 0 . . . . -0.326 -0.326000 . . . . . 1.0E-177 . . . . . . . . . -0.326 . . . . rs76646627 rs76646627 1 1538 10 1/0 0,218,255 +rs77382359 16 90095573 C T - GAS8 4166 Growth arrest-specific 8 NM_001481.2 1 3185 1437 NP_001472.1 O95995 substitution intron GRCh37 90095573 90095573 Chr16(GRCh37):g.90095573C>T 90+1443 90+1443 NM_001481.2:c.90+1443C>T p.? p.? 2 2 605178 1443 5' 89.8591 9.60237 0.981371 X.02 89.8591 9.60237 0.981371 X.02 0 rs77382359 yes no Frequency 1 C 0.000000 0 0.000257 0.000162 0.000203 0.000000 0.001390 0.000734 0.000072 0.000000 0.000408 0.001390 50 3 5 0 17 17 6 0 2 194470 18540 24672 8372 12234 23154 83776 18820 4902 0.000010 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 48 3 5 0 17 15 6 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431 Upper aerodigestive tract|Thyroid|Skin|Oesophagus|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system 0.004823|0.004016|0.000812|0.000712|0.000896|0.000283|0.000832 1244|747|1232|1405|2231|3530|2405 transition C T C>T 0.012 -0.037 213 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.G178A:p.V60I C16orf3:uc002fqk.1:exon1:c.G178A:p.V60I . . . 0.1954023 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . -1.0059 . . . . . . . . 1.879e-04 . . . 0.0005 0.0005 0 0.0021 0 0.0001 0 0.0011 0.0006 0.0005 0 0.0042 0 6.29e-05 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.04 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs77382359 0.011 0.007 . . . . . . . . . . . 0.03807 ENST00000408886 . . . . O95177 . . . . . . . . . 0.0002 0.0003 0.0002 0 0.0015 0 7.148e-05 0.0002 0.0007 0.0001 0.0001 0 0 0.0006 0 7.232e-05 0.0011 . . . . 0.000 0.000000 . . . . . 1.0E-213 . . . . . . . . . 0.000 . 0.011 . . rs77382359 rs77382359 1 1538 10 1/0 0,240,255 +rs77382359 16 90095573 C T - GAS8-AS1 1197 GAS8 antisense RNA 1 NR_122031.1 -1 994 0 substitution exon GRCh37 90095573 90095573 Chr16(GRCh37):g.90095573C>T 737 737 NR_122031.1:n.737G>A 1 605179 rs77382359 yes no Frequency 1 C 0.000000 0 0.000257 0.000162 0.000203 0.000000 0.001390 0.000734 0.000072 0.000000 0.000408 0.001390 50 3 5 0 17 17 6 0 2 194470 18540 24672 8372 12234 23154 83776 18820 4902 0.000010 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 48 3 5 0 17 15 6 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431|COSM1563431 Upper aerodigestive tract|Thyroid|Skin|Oesophagus|Large intestine|Haematopoietic and lymphoid tissue|Central nervous system 0.004823|0.004016|0.000812|0.000712|0.000896|0.000283|0.000832 1244|747|1232|1405|2231|3530|2405 transition G A G>A 0.012 -0.037 213 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.G178A:p.V60I C16orf3:uc002fqk.1:exon1:c.G178A:p.V60I . . . 0.1954023 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 87.0 . . . . . . . . . . -1.0059 . . . . . . . . 1.879e-04 . . . 0.0005 0.0005 0 0.0021 0 0.0001 0 0.0011 0.0006 0.0005 0 0.0042 0 6.29e-05 0 0.0012 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.24 0.04 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs77382359 0.011 0.007 . . . . . . . . . . . 0.03807 ENST00000408886 . . . . O95177 . . . . . . . . . 0.0002 0.0003 0.0002 0 0.0015 0 7.148e-05 0.0002 0.0007 0.0001 0.0001 0 0 0.0006 0 7.232e-05 0.0011 . . . . 0.000 0.000000 . . . . . 1.0E-213 . . . . . . . . . 0.000 . 0.011 . . rs77382359 rs77382359 1 1538 10 1/0 0,240,255 +rs62640380 16 90095582 T C - GAS8 4166 Growth arrest-specific 8 NM_001481.2 1 3185 1437 NP_001472.1 O95995 substitution intron GRCh37 90095582 90095582 Chr16(GRCh37):g.90095582T>C 90+1452 90+1452 NM_001481.2:c.90+1452T>C p.? p.? 2 2 605178 1452 5' 89.8591 9.60237 0.981371 X.02 89.8591 9.60237 0.981371 X.02 0 rs62640380 no no 0 0.000000 0 0.000297 0.000119 0.000333 0.000000 0.000999 0.000662 0.000196 0.000055 0.000419 0.000999 56 2 8 0 12 15 16 1 2 188382 16862 24060 8176 12018 22648 81818 18026 4774 0.000011 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 54 2 8 0 12 13 16 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430 Upper aerodigestive tract|Thyroid|Skin|Salivary gland|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.004823|0.008032|0.000812|0.012658|0.001793|0.000578|0.000283 1244|747|1232|79|2231|1729|3530 transition T C T>C 0.031 -0.037 255 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.A169G:p.S57G C16orf3:uc002fqk.1:exon1:c.A169G:p.S57G . . . 0.325 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 80.0 . . . . . . . . . . -0.9980 . . . . . . . . . . . . 0.0003 0.0005 0.0020 0.0011 0 0.0002 0 0.0010 0.0003 0.0005 0.0021 0.0016 0 0.0002 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.05 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs62640380 0.022 0.022 . . . . . . . . . . . 0.099678 ENST00000408886 . . . . O95177 . . . . . . . . . 0.0001 0.0003 0.0003 0 0.0011 6.844e-05 0.0002 0.0003 0.0007 0.0001 0.0002 0 0 0 0 0.0002 0.0011 . . . . 0.000 0.000000 . . . . . 1.0E-255 . . . . . . . . . 0.000 . 0.022 . . rs62640380 rs62640380 1 1538 10 1/0 0,255,255 +rs62640380 16 90095582 T C - GAS8-AS1 1197 GAS8 antisense RNA 1 NR_122031.1 -1 994 0 substitution exon GRCh37 90095582 90095582 Chr16(GRCh37):g.90095582T>C 728 728 NR_122031.1:n.728A>G 1 605179 rs62640380 no no 0 0.000000 0 0.000297 0.000119 0.000333 0.000000 0.000999 0.000662 0.000196 0.000055 0.000419 0.000999 56 2 8 0 12 15 16 1 2 188382 16862 24060 8176 12018 22648 81818 18026 4774 0.000011 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 54 2 8 0 12 13 16 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430|COSM1563430 Upper aerodigestive tract|Thyroid|Skin|Salivary gland|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.004823|0.008032|0.000812|0.012658|0.001793|0.000578|0.000283 1244|747|1232|79|2231|1729|3530 transition A G A>G 0.031 -0.037 255 PASS . . . . . . . . . . . ENSG00000221819:ENST00000408886:exon1:c.A169G:p.S57G C16orf3:uc002fqk.1:exon1:c.A169G:p.S57G . . . 0.325 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 80.0 . . . . . . . . . . -0.9980 . . . . . . . . . . . . 0.0003 0.0005 0.0020 0.0011 0 0.0002 0 0.0010 0.0003 0.0005 0.0021 0.0016 0 0.0002 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.26 0.05 182 ENSG00000221819 C16orf3 GAS8-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HET . rs62640380 0.022 0.022 . . . . . . . . . . . 0.099678 ENST00000408886 . . . . O95177 . . . . . . . . . 0.0001 0.0003 0.0003 0 0.0011 6.844e-05 0.0002 0.0003 0.0007 0.0001 0.0002 0 0 0 0 0.0002 0.0011 . . . . 0.000 0.000000 . . . . . 1.0E-255 . . . . . . . . . 0.000 . 0.022 . . rs62640380 rs62640380 1 1538 10 1/0 0,255,255 +. (chr16:90160346 A/C) 16 90160346 A C Not on a known gene +. (chr16:90160355 C/T) 16 90160355 C T Not on a known gene +. (chr16:90160361 C/G) 16 90160361 C G Not on a known gene +. (chr16:90160372 C/A) 16 90160372 C A Not on a known gene +rs200589860 (chr16:90160400 C/T) 16 90160400 C T Not on a known gene +rs201142204 (chr16:90160405 G/C) 16 90160405 G C Not on a known gene +rs200989144 (chr16:90160413 C/T) 16 90160413 C T Not on a known gene +rs201867141 (chr16:90160421 T/C) 16 90160421 T C Not on a known gene +rs8080389 17 1371818 C T - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1371818 1371818 Chr17(GRCh37):g.1371818C>T 2611-28 2611-28 NM_001080779.1:c.2611-28G>A p.? p.? 26 25 606538 -28 3' 82.4791 9.58045 0.91818 IX.28 82.4791 9.58045 0.91818 X.39 0 rs8080389 yes no Frequency/1000G 2 T 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999960 0.999958 1.000000 1.000000 0.999469 1.000000 1.000000 1.000000 1.000000 1.000000 275911 23915 34396 10126 18832 30770 125936 25504 6432 275922 23916 34396 10126 18842 30770 125936 25504 6432 0.999920 0.999916 1.000000 1.000000 0.998939 1.000000 1.000000 1.000000 1.000000 137950 11957 17198 5063 9411 15385 62968 12752 3216 11 1 0 0 10 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -3.184 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . 0.2880 . . . . . . . . 1.000 . . . 1 1.0000 1 0.9998 1 1 1 1 1 1.0000 1 0.9996 1 1 1 1 . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.32 0.23 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs8080389 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 0.9994 1 1 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs8080389 rs8080389 rs8080389 rs8080389 1 1538 255 1.I 0,0,255 +rs397776021 17 1372653 C T - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372653 1372653 Chr17(GRCh37):g.1372653C>T 2610+172 2610+172 NM_001080779.1:c.2610+172G>A p.? p.? 25 25 606538 172 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs397776021 yes no Frequency 1 C 0.000000 0 0.000080 0.000140 0.000000 0.000000 0.000000 0.000000 0.000087 0.000000 0.000000 0.000140 2 1 0 0 0 0 1 0 0 25130 7154 732 242 1262 0 11524 3390 826 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 55 Genomes transition G A G>A 0.000 0.125 211 PASS . . . . . . . . . . . . . . . . 0.1884058 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.0502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.2 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs397776021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.959e-05 0 0 0 0 8.678e-05 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs45612536 rs45612536 . . 1 1538 10 1/0 0,250,255 +rs397821329 17 1372654 T C - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372654 1372654 Chr17(GRCh37):g.1372654T>C 2610+171 2610+171 NM_001080779.1:c.2610+171A>G p.? p.? 25 25 606538 171 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs397821329 yes no Frequency 1 T 0.000000 0 0.000121 0.000282 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 0.000282 3 2 0 0 0 0 1 0 0 24882 7102 722 244 1266 0 11334 3390 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 56 Genomes transition A G A>G 0.000 -1.167 216 PASS . . . . . . . . . . . . . . . . 0.20289855 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.3274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.18 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs397821329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0001 0 0 0 0 8.823e-05 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs45469100 rs45469100 . . 1 1538 10 1/0 0,251,255 +rs45603038 17 1372665 G C - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372665 1372665 Chr17(GRCh37):g.1372665G>C 2610+160 2610+160 NM_001080779.1:c.2610+160C>G p.? p.? 25 25 606538 160 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs45603038 yes no Frequency 1 G 0.000000 0 0.000088 0.000159 0.000000 0.000000 0.000000 0.000000 0.000097 0.000000 0.000000 0.000159 2 1 0 0 0 0 1 0 0 22732 6290 686 230 1174 0 10320 3272 760 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 62 Genomes transversion C G C>G 0.000 -1.086 221 PASS . . . . . . . . . . . . . . . . 0.21875 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.22 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45603038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 8.798e-05 0 0 0 0 9.69e-05 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs45603038 rs45603038 rs45603038 rs45603038 1 1538 10 1/0 0,255,255 +rs79776316 17 1372666 A G - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372666 1372666 Chr17(GRCh37):g.1372666A>G 2610+159 2610+159 NM_001080779.1:c.2610+159T>C p.? p.? 25 25 606538 159 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs79776316 yes no Frequency 1 A 0.000000 0 0.000088 0.000160 0.000000 0.000000 0.000000 0.000000 0.000097 0.000000 0.000000 0.000160 2 1 0 0 0 0 1 0 0 22754 6244 674 226 1152 0 10334 3336 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 62 Genomes transition T C T>C 0.000 -1.974 217 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.4352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.39 0.2 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79776316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 8.79e-05 0 0 0 0 9.677e-05 0 . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs79776316 rs79776316 1 1538 10 1/0 0,252,255 +rs79563127 17 1372672 C A - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372672 1372672 Chr17(GRCh37):g.1372672C>A 2610+153 2610+153 NM_001080779.1:c.2610+153G>T p.? p.? 25 25 606538 153 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs79563127 no no 0 C 0.000000 0 0.000098 0.000163 0.000000 0.000000 0.000000 0.000000 0.000114 0.000000 0.000000 0.000163 2 1 0 0 0 0 1 0 0 20444 6150 620 212 1066 0 8752 2968 676 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 68 Genomes transversion G T G>T 0.000 0.286 213 PASS . . . . . . . . . . . . . . . . 0.19402985 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . 0.0742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.19 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79563127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.783e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs79563127 rs79563127 1 1538 10 1/0 0,251,255 +rs79752500 17 1372674 A G - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372674 1372674 Chr17(GRCh37):g.1372674A>G 2610+151 2610+151 NM_001080779.1:c.2610+151T>C p.? p.? 25 25 606538 151 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs79752500 no no 0 A 0.000000 0 0.000098 0.000170 0.000000 0.000000 0.000000 0.000000 0.000112 0.000000 0.000000 0.000170 2 1 0 0 0 0 1 0 0 20338 5872 618 214 1098 0 8914 2938 684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 70 Genomes transition T C T>C 0.000 -1.974 220 PASS . . . . . . . . . . . . . . . . 0.21538462 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.4804 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.18 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79752500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.834e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs79752500 rs79752500 1 1538 10 1/0 0,254,255 +rs74369015 17 1372675 G C - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372675 1372675 Chr17(GRCh37):g.1372675G>C 2610+150 2610+150 NM_001080779.1:c.2610+150C>G p.? p.? 25 25 606538 150 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs74369015 no no 0 G 0.000000 0 0.000097 0.000160 0.000000 0.000000 0.000000 0.000000 0.000112 0.000000 0.000000 0.000160 2 1 0 0 0 0 1 0 0 20668 6266 620 212 1090 0 8914 2882 684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Genomes transversion C G C>G 0.000 0.286 215 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . 0.0742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.36 0.21 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74369015 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.677e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . rs74369015 rs74369015 1 1538 10 1/0 0,255,255 +rs45621132 17 1372691 T C - MYO1C 7597 Myosin IC NM_001080779.1 -1 4952 3192 NP_001074248.1 O00159 substitution intron GRCh37 1372691 1372691 Chr17(GRCh37):g.1372691T>C 2610+134 2610+134 NM_001080779.1:c.2610+134A>G p.? p.? 25 25 606538 134 5' 84.1959 X.66 0.968187 7.50769 84.1959 X.66 0.968187 7.50769 0 rs45621132 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.44578314 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . . . . . . . . . -0.4776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.18 182 ENSG00000197879 MYO1C MYO1C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45621132 0.065 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 rs45621132 rs45621132 rs45621132 rs45621132 1 1538 10 1/0 0,255,255 +rs140207094 17 2297571 G A - MNT 7188 MAX binding protein NM_020310.2 -1 4842 1749 NP_064706.1 Q99583 substitution intron GRCh37 2297571 2297571 Chr17(GRCh37):g.2297571G>A 695+28 695+28 NM_020310.2:c.695+28C>T p.? p.? 3 3 603039 28 5' 85.464 6.99123 0.934924 0 85.464 6.99123 0.934924 0 0 rs140207094 yes no Frequency/1000G 2 A 0.000000 0 transition C T C>T 0.000 -2.942 205 PASS 0.43 0.29 0.25 0.3 0.22 . . . . . . . . . . . 0.17391305 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||MNT|mRNA|CODING|NM_020310|) . . . . . . . 0.2002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.25 0.34 182 ENSG00000070444 MNT MNT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140207094 0.076 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . 0.43 . . rs140207094 rs140207094 1 1538 10 1/0 0,255,255 +. 17 2297571 G GCA - MNT 7188 MAX binding protein NM_020310.2 -1 4842 1749 NP_064706.1 Q99583 duplication intron GRCh37 2297571 2297572 Chr17(GRCh37):g.2297572_2297573dup 695+26 695+27 NM_020310.2:c.695+26_695+27dup p.? p.? 3 3 603039 27 5' 85.464 6.99123 0.934924 0 85.464 6.99123 0.934924 0 0 rs539682697 yes no Frequency/1000G 2 0.249401 CA 1249 0.249401 0.254900 0.218800 0.311500 0.175000 0.299700 TG 255 Pass . . . . . 0.25 0.25 0.3 0.31 0.17 0.22 . . . . . 0.4918033 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 61 . . INTRON(MODIFIER||||MNT|mRNA|CODING|NM_020310|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000070444 MNT MNT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35367394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,31 +. 17 2597729 GGACA G - CLUH 29094 Clustered mitochondria (cluA/CLU1) homolog NM_015229.3 -1 5224 3930 NP_056044.3 O75153 deletion intron GRCh37 2597730 2597733 Chr17(GRCh37):g.2597730_2597733del 2820+41 2820+44 NM_015229.3:c.2820+41_2820+44del p.? p.? 17 17 616184 41 5' 79.7784 8.06623 0.835743 8.90948 79.7784 8.06623 0.835743 8.60068 0 GTCC 255 Pass . . . . . . . . . . . . . . . . 0.3392857 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000132361 CLUH CLUH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +. 17 2597729 GGACA G - MIR6776 50193 MicroRNA 6776 NR_106834.1 -1 59 0 deletion upstream GRCh37 2597730 2597733 Chr17(GRCh37):g.2597730_2597733del -1520 -1517 NR_106834.1:n.-1520_-1517del p.? p.? 1 GTCC 255 Pass . . . . . . . . . . . . . . . . 0.3392857 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000132361 CLUH CLUH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +rs200048826 17 3182005 C T - OR3A2 8283 Olfactory receptor, family 3, subfamily A, member 2 NM_002551.3 -1 1085 966 NP_002542.3 P47893 substitution synonymous exon GRCh37 3182005 3182005 Chr17(GRCh37):g.3182005C>T 225 225 NM_002551.3:c.225G>A p.Leu75= p.Leu75Leu 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs200048826 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.001000 0.001000 0.000000 0.000000 0.000275 0.000461 0.000102 0.000000 0.000793 0.000224 0.000274 0.000062 0.000275 0.000793 38 7 2 0 9 3 15 1 1 138046 15186 19576 3830 11354 13406 54822 16236 3636 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 7 2 0 9 3 15 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.063 -1.893 L Leu CTG 0.404 L Leu CTA 0.070 75 255 PASS 0.14 0.11 0.06 0.09 0.12 . 0.0004 . 0.001 . 0.001 ENSG00000221882:ENST00000408891:exon1:c.G225A:p.L75L OR3A2:uc002fvg.3:exon1:c.G225A:p.L75L OR3A2:NM_002551:exon1:c.G225A:p.L75L . . 0.39641944 . . @ 155 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 391.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L75|OR3A2|mRNA|CODING|NM_002551|NM_002551.ex.1) . . . . . . . -0.1734 . . . . . . . . 1.956e-04 . . . 0.0021 0.0012 0 0.0015 0 0.0012 0 0.0012 0.0033 0.0010 0 0.0023 0 0.0003 0 0.0012 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.17 0.15 182 ENSG00000221882 OR3A2 OR3A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200048826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0003 0.0001 0 0.0008 7.82e-05 0.0003 0.0004 0.0002 0.0002 0.0002 0 0 0.0007 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs12451522 rs12451522 rs12451522 rs12451522 1 1538 10 1/0 0,194,230 +rs539537335 17 3664602 C T - ITGAE 6147 "Integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)" NM_002208.4 -1 3861 3540 NP_002199.3 P38570 substitution intron GRCh37 3664602 3664602 Chr17(GRCh37):g.3664602C>T 433+95 433+95 NM_002208.4:c.433+95G>A p.? p.? 5 5 604682 95 5' 82.3421 8.92377 0.987583 6.28592 82.3421 8.92377 0.987583 6.28592 0 rs539537335 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000969 0.000687 0.003580 0.000000 0.000000 0.000000 0.001400 0.000000 0.000000 0.003580 30 6 3 0 0 0 21 0 0 30964 8730 838 302 1622 0 14998 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 6 3 0 0 0 21 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 -0.037 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.34567901 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . INTRON(MODIFIER||||ITGAE|mRNA|CODING|NM_002208|) . . . . . . . -0.1346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000083457 ITGAE ITGAE . . . . . . 60 0.000923418 64976 58 0.000966892 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs539537335 . 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0010 0.0036 0 0 0 0.0014 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199594337 17 3765531 C T - CAMKK1 1469 Calcium/calmodulin-dependent protein kinase kinase 1, alpha NM_172207.2 -1 2458 1563 NP_757344.2 substitution downstream GRCh37 3765531 3765531 Chr17(GRCh37):g.3765531C>T *3667 *3667 NM_172207.2:c.*3667G>A p.? p.? 16 611411 3775 3' 84.2337 X.15 0.967139 13.0525 84.2337 X.15 0.967139 13.0525 0 rs199594337 yes no Frequency 1 C 0.000000 0 0.000551 0.000048 0.000000 0.000000 0.000000 0.000000 0.000275 0.004591 0.000174 0.004591 131 1 0 0 0 0 29 100 1 237822 20898 31284 9418 16760 26638 105282 21782 5760 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 131 1 0 0 0 0 29 100 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.984 1.174 255 PASS . . . . . . . . . . . . . . . . 0.43220338 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.429 . @ . . . . . 1 0.879 . . 118.0 . . . . . . . . . . 0.3292 0.335 0.329 c . . . . . 3.016e-04 . . . 0 0.0003 0 0 0.0087 0.0005 0 0 0 0.0005 0 0 0.0098 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.712 . . exonic exonic exonic . . 0.459 @ . . . 0.36 0.35 182 ENSG00000004660 CAMKK1 CAMKK1 . . . 0.001 0.082 . 30 0.000461709 64976 30 0.000500117 59986 Uncertain_significance . 0 . 0.395 . . . . D 0.716 0.072 . . 37 . 0.665 . . 0.664 . . . 0.735 0.259 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.125 . . 0 0 0 0 0 0 . 0.481 . . 0.405 . . . . . . 1 0.586 . . . . . 0.284 . 0.210 . HET 0.02 rs199594337 . . . . . . . . . . . . VII.59 . . 4.III 4.III . 0.030000 Q8N5S9 . . . . . 0.309 . . 4.III 0 0.0005 0 0 0 0.0040 0.0003 0.0002 0 0.0001 0.0010 0 0 0 0.0074 0.0003 0 . . 0.567 . 2.551 2.551000 . . 0.030000 . . 1.0E-255 0.990 0.367 . 0.604 0.995 . 0.464 . 0.434 2.551 0.598 . . . rs199594337 rs199594337 1 1538 10 1/0 0,247,255 +. 17 4439727 T G - SPNS2 26992 Spinster homolog 2 (Drosophila) NM_001124758.2 1 3444 1650 NP_001118230.1 Q8IVW8 substitution intron GRCh37 4439727 4439727 Chr17(GRCh37):g.4439727T>G 1607+6 1607+6 NM_001124758.2:c.1607+6T>G p.? p.? 11 11 612584 6 5' 71.5327 7.394 0.904238 XI.21 66.5139 2.18848 0.089751 7.98975 -0.558308 transversion T G T>G 1.000 2.869 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . 2.1526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000183018 SPNS2 SPNS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.876 . . . . . . IV.82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs780187458 17 4448020 T G - MYBBP1A 7546 MYB binding protein (P160) 1a NM_001105538.1 -1 4105 3999 NP_001099008.1 substitution intron GRCh37 4448020 4448020 Chr17(GRCh37):g.4448020T>G 2481+26 2481+26 NM_001105538.1:c.2481+26A>C p.? p.? 18 18 604885 26 5' 80.8983 8.18959 0.96977 14.0502 80.8983 8.18959 0.96977 14.483 0 rs780187458 yes no Frequency 1 T 0.000000 0 0.000175 0.000237 0.000000 0.000000 0.000000 0.000000 0.000345 0.000183 0.000000 0.000345 22 3 0 0 0 0 17 2 0 125520 12680 19392 4602 10824 14266 49334 10950 3472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 3 0 0 0 0 17 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.521 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.1549 . . . . . . . . 1.100e-04 . . . 0.0008 0.0001 0 0 0 0 0 0 0.0009 0.0001 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132382 MYBBP1A MYBBP1A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs780187458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0002 0.0004 0 0 0.0005 0.0003 0 0 0 0 0.0003 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs188072571 17 4721572 G A - PLD2 9068 Phospholipase D2 NM_002663.4 1 3496 2802 NP_002654.3 O14939 substitution intron GRCh37 4721572 4721572 Chr17(GRCh37):g.4721572G>A 1921-20 1921-20 NM_002663.4:c.1921-20G>A p.? p.? 19 18 602384 -20 3' 81.3838 7.71572 0.838608 7.83197 81.3838 7.63815 0.837967 7.37075 -0.00360584 rs188072571 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.002000 0.002900 0.002739 0.000666 0.000729 0.000501 0.000053 0.000884 0.003758 0.007249 0.003424 0.007249 755 16 25 5 1 27 473 186 22 275694 24028 34306 9976 18866 30554 125880 25658 6426 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 751 16 25 5 1 27 469 186 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8576 4406 12982 24 0 24 0.0027907 0 0.0018453 0.0027907 0 0.0018453 64 transition G A G>A 0.008 -0.602 255 PASS . 0.0014 0.0028 . 0.0026 . 0.001 0.0029 . 0.002 0.001 . . . . . 0.40944883 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . 0.0018 0.0028 . 0.0018 0.0028 . -0.0358 . . . . . . . . 2.826e-03 . . . 0.0006 0.0026 0.0009 0 0.0074 0.0041 0.0043 0.0009 0.0004 0.0026 0.0008 0 0.0079 0.0036 0.0015 0.0009 . . . . . . UTR3 UTR3 intronic . . . 0.0010 . . . 0.5 0.57 182 ENSG00000129219 PLD2 PLD2 ENST00000575246:c.*1739G>A uc010vsj.2:c.*165G>A . . . . 235 0.00361672 64976 230 0.00383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188072571 . . . . . . . . . . . . . . . . . . . . . . . 0.001845 . . . . . 0.0004 0.0026 0.0007 0.0005 5.798e-05 0.0070 0.0036 0.0033 0.0009 0.0011 0.0041 0.0024 0 0 0.0089 0.0053 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs188072571 rs188072571 1 1538 10 1/0 0,242,255 +rs189789565 17 5012509 C T - ZNF232 13026 Zinc finger protein 232 NM_014519.3 -1 1877 1335 NP_055334.2 substitution intron GRCh37 5012509 5012509 Chr17(GRCh37):g.5012509C>T 499-162 499-162 NM_014519.3:c.499-162G>A p.? p.? 3 2 616463 -162 3' 83.5212 8.0264 0.77727 2.77172 83.5212 8.0264 0.77727 2.77172 0 rs189789565 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001336 0.000000 0.000082 0.000000 0.000000 0.000453 0.001322 0.007497 0.002315 0.007497 257 0 2 0 0 9 115 120 11 192296 19648 24508 5522 14998 19888 86974 16006 4752 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 257 0 2 0 0 9 115 120 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.189 0.770 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.537037 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||ZNF232|mRNA|CODING|NM_014519|) . . . . . . . 0.6660 . . . . . . . . 1.248e-03 . . . 0 0.0015 0.0003 0 0.0083 0.0016 0 0.0006 0 0.0021 0.0003 0 0.0098 0.0020 0.0032 0.0006 . . . . . . UTR3 UTR3 intronic . . . 0.0002 . . . 0.62 0.64 182 ENSG00000167840 ZNF232 ZNF232 . . . . . . 89 0.00136974 64976 88 0.00146701 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189789565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 8.45e-05 0 0 0.0070 0.0010 0.0021 0.0005 0 0.0025 0 0 0 0.0092 0.0027 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs189789565 rs189789565 1 1538 10 1/0 0,255,255 +. 17 5334804 T TA - C1QBP 1243 Complement component 1, q subcomponent binding protein NM_001212.3 -1 1163 849 NP_001203.1 Q07021 duplication downstream GRCh37 5334804 5334805 Chr17(GRCh37):g.5334805dup *1530 *1530 NM_001212.3:c.*1530dup p.? p.? 6 601269 1680 3' 96.5052 8.01383 0.956116 8.01955 96.5052 8.01383 0.956116 8.01955 0 T 255 Pass . . . . . . . . . . . . . . . . 0.1594203 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intronic . . . . . . . . . . ENSG00000263272 AK098491 RPAIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,80 +. 17 5334804 T TA - RPAIN 28641 RPA interacting protein NM_001160243.1 1 2654 696 NP_001153715.1 duplication downstream GRCh37 5334820 5334821 Chr17(GRCh37):g.5334820dup *3223 *3223 NM_001160243.1:c.*3223dup p.? p.? 6 617299 3430 3' 87.1491 7.61401 0.973165 0 87.1491 7.61401 0.973165 0 0 A 255 Pass . . . . . . . . . . . . . . . . 0.1594203 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intronic . . . . . . . . . . ENSG00000263272 AK098491 RPAIN . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,80 +rs146505967 17 5445271 C T - NLRP1 14374 NLR family, pyrin domain containing 1 NM_033004.3 -1 5613 4422 NP_127497.1 Q9C000 substitution missense exon GRCh37 5445271 5445271 Chr17(GRCh37):g.5445271C>T 2605 2605 NM_033004.3:c.2605G>A p.Glu869Lys p.Glu869Lys 6 606636 77 3' 89.6639 XI.16 0.961601 8.18993 89.6639 XI.16 0.961601 7.40431 0 Leucine-rich repeat, ribonuclease inhibitor subtype rs146505967 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001578 0.000166 0.000029 0.000000 0.000000 0.000552 0.001533 0.008072 0.002011 0.008072 437 4 1 0 0 17 194 208 13 276984 24030 34418 10142 18870 30772 126518 25768 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 437 4 1 0 0 17 194 208 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4404 12994 10 2 12 0.00116279 0.000453926 0.000922651 0.00116279 0.000453926 0.000922651 79 transition G A G>A 0.000 -0.198 E Glu GAG 0.583 K Lys AAG 0.575 869 10 7 Little brown bat 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 233.89 34.45 Tolerated 0.08 III.40 good 2.059E-1 0.04557 255 PASS . 0.0009 . . 0.0026 . 0.0002 . . 0.001 . . . . . . 0.47916666 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.150 . @ . . . . . 1 0.088 . . 96.0 . . . 0.0005 0.0009 0.0012 0.0005 0.0009 0.0012 . -1.3700 -1.508 -1.370 c . . . . . 1.563e-03 . . . 9.737e-05 0.0010 0 0 0.0069 0.0012 0 0.0006 0.0001 0.0015 0 0 0.0084 0.0017 0.0015 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.082 0.0002 . . . 0.3 0.34 182 ENSG00000091592 NLRP1 NLRP1 . . . 1.000 0.489 . 88 0.00135435 64976 87 0.00145034 59986 Benign . 0 . 0.154 . . . . T 0.333 0.014 . . 37 . 0.443 . . 0.299 . . . 0.708 0.090 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.491 . . 0 0 0 0 0 0 . 0.380 . . 0.145 . . . . . . 0 0.321 . . . . . 0.121 . 0.235 . HET 0.03 rs146505967 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 4.705 8.03E-4 . II.13 -1.49 . 0.150000 . . . Name\x3dnsv907625 0.000923 . 0.113 . . . 0.0002 0.0014 2.978e-05 0 0 0.0079 0.0012 0.0016 0.0006 0.0001 0.0030 0 0 0 0.0095 0.0037 0.0041 . . 0.730 . -0.261 -0.261000 . . 0.150000 . . 1.0E-255 0.148 0.234 . 0.130 0.298 . 0.197 . 0.018 -0.261 0.666 0.0026 . . rs146505967 rs146505967 1 1538 10 1/0 0,255,255 +rs72836242 17 6690572 T C - FBXO39 28565 F-box protein 39 NM_153230.2 1 1667 1329 NP_694962.1 Q8N4B4 substitution intron GRCh37 6690572 6690572 Chr17(GRCh37):g.6690572T>C 1201-47 1201-47 NM_153230.2:c.1201-47T>C p.? p.? 4 3 609106 -47 3' 83.8248 5.69077 0.798043 5.99651 83.8248 5.69077 0.798043 5.80531 0 Cryptic Donor Strongly Activated 6690574 0.285424 0.003028 59.0641 1.97888 0.01851 63.1922 rs72836242 yes no Frequency/1000G 2 T 0.000000 0 0.332867 0.242800 0.325200 0.579400 0.219700 0.321300 transition T C T>C 0.126 -0.037 255 PASS . . . . . 0.24 0.33 0.32 0.58 0.22 0.33 . . . . . 0.43333334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||FBXO39|mRNA|CODING|NM_153230|) . . . . . . . -0.2026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3329 . . . 0.25 0.31 182 ENSG00000177294 FBXO39 FBXO39 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72836242 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72836242 rs72836242 rs72836242 1 1538 10 1/0 0,255,255 +rs199754411 17 7225034 C T - NEURL4 34410 Neuralized homolog 4 (Drosophila) NM_032442.2 -1 5187 4689 NP_115818.2 Q96JN8 substitution missense exon GRCh37 7225034 7225034 Chr17(GRCh37):g.7225034C>T 2944 2944 NM_032442.2:c.2944G>A p.Glu982Lys p.Glu982Lys 18 615865 73 3' 83.8372 XI.06 0.986884 XII.67 83.8372 XI.06 0.986884 XII.13 0 NEUZ rs199754411 yes no Frequency 1 C 0.000000 0 0.000716 0.000209 0.000029 0.001184 0.000000 0.000000 0.001124 0.001249 0.000931 0.001249 198 5 1 12 0 0 142 32 6 276526 23972 34408 10134 18864 30776 126308 25616 6448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 198 5 1 12 0 0 142 32 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8318 4012 12330 12 0 12 0.00144058 0 0.00097229 0.00144058 0 0.00097229 42 COSM4394386 Skin 0.000812 1232 transition G A G>A 1.000 2.788 E Glu GAG 0.583 K Lys AAG 0.575 982 11 8 Tetraodon 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C15 44.60 56.87 Deleterious 0.04 III.60 bad 3.78E-4 0.0003834 255 PASS . . . . . . . . . . . . . . . . 0.51492536 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.411 . @ . . . . . 1 0.886 . . 134.0 . . . . 0.001 0.0014 . 0.001 0.0014 . -0.0011 0.151 -0.001 c . . . . . 7.337e-04 . . . 0.0002 0.0006 0 0 0.0016 0.0011 0 0 0.0002 0.0007 0 0 0.0012 0.0012 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.312 . . exonic exonic exonic . . 0.551 @ . . . 0.38 0.19 182 ENSG00000215041 NEURL4 NEURL4 . . . 0.995 0.336 . 31 0.000477099 64976 31 0.000516787 59986 Uncertain_significance . 0 . 0.425 . . . . T 0.074 0.003 . . 37 . 0.275 . . 0.175 . . . 0.327 0.317 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.126 . . 0.104 . . . . . . 0 0.169 . . . . . 0.373 . 0.393 . HET 0.13 rs199754411 . . . . . . . . . . . . IX.39 3.0E-4 . V.52 IV.54 . 0.390000 . . . . 0.000972 . 0.559 . . IV.54 0.0001 0.0006 2.979e-05 0.0012 0 0.0010 0.0010 0.0009 0 0.0003 0.0015 0 0 0 0.0029 0.0022 0.0010 . . 0.730 . 2.757 2.757000 . . 0.390000 . . 1.0E-255 1.000 0.715 . 0.308 0.454 . 0.510 . 0.490 2.757 0.871 0.0014 . . rs199754411 rs199754411 1 1538 10 1/0 0,247,255 +rs369868893 17 7340720 C T - FGF11 3667 Fibroblast growth factor 11 NM_004112.3 1 3058 678 NP_004103.1 Q92914 substitution upstream GRCh37 7340720 7340720 Chr17(GRCh37):g.7340720C>T -2220 -2220 NM_004112.3:c.-2220C>T p.? p.? 1 601514 -2413 5' 86.6769 9.89081 0.983906 15.0113 86.6769 9.89081 0.983906 15.0113 0 rs369868893 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.004000 0.001400 0.003235 0.000574 0.000429 0.000257 0.000000 0.000378 0.004560 0.008983 0.003709 0.008983 570 8 10 2 0 8 346 180 16 176200 13932 23298 7792 9792 21150 75884 20038 4314 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000299 0.000000 6 0 0 0 0 0 3 3 0 558 8 10 2 0 8 340 174 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8236 4004 12240 40 2 42 0.00483325 0.000499251 0.00341964 0.00483325 0.000499251 0.00341964 7 transition C T C>T 0.142 0.770 255 PASS . . . . . 0.0008 0.0012 0.0014 . 0.004 . . . TMEM102:NM_178518:exon3:c.C1422T:p.A474A . . 0.5102041 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . . 0.0005 0.0034 0.0048 0.0005 0.0034 0.0048 . I.42 . . . . . . . . 2.636e-03 . . . 0.0009 0.0036 0.0007 0 0.0209 0.0069 0 0.0004 0.0005 0.0051 0.0003 0 0.0215 0.0093 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.21 0.36 182 ENSG00000181284 TMEM102 TMEM102 . . . . . . 236 0.00363211 64976 230 0.00383423 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369868893 . . . . . . . . . . . . . . . . . . . . . . . 0.003420 . . . . . 0.0006 0.0034 0.0004 0.0003 0 0.0092 0.0049 0.0042 0.0004 0.0006 0.0027 0 0 0 0.0078 0.0032 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0048 . . rs369868893 rs369868893 1 1538 10 1/0 0,255,255 +rs369868893 17 7340720 C T - TMEM102 26722 Transmembrane protein 102 NM_001320444.1 1 2099 1527 NP_001307373.1 Q8N9M5 substitution synonymous exon GRCh37 7340720 7340720 Chr17(GRCh37):g.7340720C>T 1422 1422 NM_001320444.1:c.1422C>T p.Ala474= p.Ala474Ala 2 613936 1208 3' 88.3095 12.048 0.99811 X.08 88.3095 12.048 0.99811 X.08 0 rs369868893 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.004000 0.001400 0.003235 0.000574 0.000429 0.000257 0.000000 0.000378 0.004560 0.008983 0.003709 0.008983 570 8 10 2 0 8 346 180 16 176200 13932 23298 7792 9792 21150 75884 20038 4314 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000299 0.000000 6 0 0 0 0 0 3 3 0 558 8 10 2 0 8 340 174 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8236 4004 12240 40 2 42 0.00483325 0.000499251 0.00341964 0.00483325 0.000499251 0.00341964 7 transition C T C>T 0.142 0.770 A Ala GCC 0.403 A Ala GCT 0.263 474 255 PASS . . . . . 0.0008 0.0012 0.0014 . 0.004 . . . TMEM102:NM_178518:exon3:c.C1422T:p.A474A . . 0.5102041 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . . 0.0005 0.0034 0.0048 0.0005 0.0034 0.0048 . I.42 . . . . . . . . 2.636e-03 . . . 0.0009 0.0036 0.0007 0 0.0209 0.0069 0 0.0004 0.0005 0.0051 0.0003 0 0.0215 0.0093 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.21 0.36 182 ENSG00000181284 TMEM102 TMEM102 . . . . . . 236 0.00363211 64976 230 0.00383423 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369868893 . . . . . . . . . . . . . . . . . . . . . . . 0.003420 . . . . . 0.0006 0.0034 0.0004 0.0003 0 0.0092 0.0049 0.0042 0.0004 0.0006 0.0027 0 0 0 0.0078 0.0032 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0048 . . rs369868893 rs369868893 1 1538 10 1/0 0,255,255 +rs199996601 17 7386114 A G - POLR2A 9187 Polymerase (RNA) II (DNA directed) polypeptide A, 220kDa NM_000937.4 1 6738 5913 NP_000928.1 P24928 substitution upstream GRCh37 7386114 7386114 Chr17(GRCh37):g.7386114A>G -1970 -1970 NM_000937.4:c.-1970A>G p.? p.? 1 180660 -2063 5' 85.7103 8.69415 0.992262 XII.38 85.7103 8.69415 0.992262 XII.38 0 rs199996601 yes no Frequency 1 A 0.000000 0 0.000060 0.000000 0.000031 0.000100 0.000000 0.000000 0.000115 0.000000 0.000000 0.000115 16 0 1 1 0 0 14 0 0 267216 23536 32474 10032 17668 30110 121932 25172 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 1 1 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.992 0.528 203 PASS . . . . . . . . . . . ENSG00000259224:ENST00000412468:exon2:c.A811G:p.S271G SLC35G6:uc010cmj.1:exon2:c.A811G:p.S271G SLC35G6:NM_001102614:exon2:c.A811G:p.S271G . . 0.16867469 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.051 . . 83.0 . . . . . . . . . . -0.7480 -0.668 -0.748 c . . . . . 5.501e-03 . . . 0.0028 0.0040 0.0039 0.0029 0.0017 0.0049 0.0043 0.0032 0.0023 0.0035 0.0037 0.0050 0.0019 0.0038 0.0015 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.333 @ . . . 0.21 0.53 182 ENSG00000259224 SLC35G6 SLC35G6 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.643 0.050 . . 37 . 0.343 . . 0.245 . . . 0.440 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.055 . . . . . 0.115 . 0.281 . HET 0.65 rs199996601 . . . . . . . . . . . . 4.559 . ENST00000412468 4.VI II.97 . 0.390000 P0C7Q6 . . . . . 0.291 . . II.97 0 6.34e-05 3.159e-05 0.0001 0 0 0.0001 0 0 0 3.267e-05 0 0 0 0 6.733e-05 0 . . 0.391 . 0.560 0.560000 . . 0.390000 . . 1.0E-203 0.777 0.292 . 0.335 0.989 . 0.278 . 0.209 0.560 0.717 . . . rs199996601 rs199996601 1 1538 10 1/0 0,240,255 +rs199996601 17 7386114 A G - SLC35G6 31351 Solute carrier family 35, member G6 NM_001102614.1 1 1195 1017 NP_001096084.1 P0C7Q6 substitution missense exon GRCh37 7386114 7386114 Chr17(GRCh37):g.7386114A>G 811 811 NM_001102614.1:c.811A>G p.Ser271Gly p.Ser271Gly 2 808 3' 91.2718 9.32952 0.956223 XI.42 91.2718 9.32952 0.956223 XI.42 0 Drug/metabolite transporter rs199996601 yes no Frequency 1 A 0.000000 0 0.000060 0.000000 0.000031 0.000100 0.000000 0.000000 0.000115 0.000000 0.000000 0.000115 16 0 1 1 0 0 14 0 0 267216 23536 32474 10032 17668 30110 121932 25172 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 1 1 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.992 0.528 S Ser AGC 0.243 G Gly GGC 0.342 271 12 9 Platypus 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 252.56 0.00 Tolerated 0.1 III.33 203 PASS . . . . . . . . . . . ENSG00000259224:ENST00000412468:exon2:c.A811G:p.S271G SLC35G6:uc010cmj.1:exon2:c.A811G:p.S271G SLC35G6:NM_001102614:exon2:c.A811G:p.S271G . . 0.16867469 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.051 . . 83.0 . . . . . . . . . . -0.7480 -0.668 -0.748 c . . . . . 5.501e-03 . . . 0.0028 0.0040 0.0039 0.0029 0.0017 0.0049 0.0043 0.0032 0.0023 0.0035 0.0037 0.0050 0.0019 0.0038 0.0015 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.333 @ . . . 0.21 0.53 182 ENSG00000259224 SLC35G6 SLC35G6 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.643 0.050 . . 37 . 0.343 . . 0.245 . . . 0.440 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.055 . . . . . 0.115 . 0.281 . HET 0.65 rs199996601 . . . . . . . . . . . . 4.559 . ENST00000412468 4.VI II.97 . 0.390000 P0C7Q6 . . . . . 0.291 . . II.97 0 6.34e-05 3.159e-05 0.0001 0 0 0.0001 0 0 0 3.267e-05 0 0 0 0 6.733e-05 0 . . 0.391 . 0.560 0.560000 . . 0.390000 . . 1.0E-203 0.777 0.292 . 0.335 0.989 . 0.278 . 0.209 0.560 0.717 . . . rs199996601 rs199996601 1 1538 10 1/0 0,240,255 +rs199996601 17 7386114 A G - ZBTB4 23847 Zinc finger and BTB domain containing 4 NM_020899.3 -1 5942 3042 NP_065950.2 Q9P1Z0 substitution intron GRCh37 7386114 7386114 Chr17(GRCh37):g.7386114A>G 1128 1128 NM_020899.3:c.-81+1209T>C p.? p.? 1 1 612308 1209 5' 69.5462 6.41542 0.439919 7.15159 69.5462 6.41542 0.439919 7.15159 0 rs199996601 yes no Frequency 1 A 0.000000 0 0.000060 0.000000 0.000031 0.000100 0.000000 0.000000 0.000115 0.000000 0.000000 0.000115 16 0 1 1 0 0 14 0 0 267216 23536 32474 10032 17668 30110 121932 25172 6292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 1 1 0 0 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.992 0.528 203 PASS . . . . . . . . . . . ENSG00000259224:ENST00000412468:exon2:c.A811G:p.S271G SLC35G6:uc010cmj.1:exon2:c.A811G:p.S271G SLC35G6:NM_001102614:exon2:c.A811G:p.S271G . . 0.16867469 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.028 . @ . . . . . 1 0.051 . . 83.0 . . . . . . . . . . -0.7480 -0.668 -0.748 c . . . . . 5.501e-03 . . . 0.0028 0.0040 0.0039 0.0029 0.0017 0.0049 0.0043 0.0032 0.0023 0.0035 0.0037 0.0050 0.0019 0.0038 0.0015 0.0033 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.522 . . exonic exonic exonic . . 0.333 @ . . . 0.21 0.53 182 ENSG00000259224 SLC35G6 SLC35G6 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.643 0.050 . . 37 . 0.343 . . 0.245 . . . 0.440 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.055 . . . . . 0.115 . 0.281 . HET 0.65 rs199996601 . . . . . . . . . . . . 4.559 . ENST00000412468 4.VI II.97 . 0.390000 P0C7Q6 . . . . . 0.291 . . II.97 0 6.34e-05 3.159e-05 0.0001 0 0 0.0001 0 0 0 3.267e-05 0 0 0 0 6.733e-05 0 . . 0.391 . 0.560 0.560000 . . 0.390000 . . 1.0E-203 0.777 0.292 . 0.335 0.989 . 0.278 . 0.209 0.560 0.717 . . . rs199996601 rs199996601 1 1538 10 1/0 0,240,255 +rs200592951 17 7559022 A C - ATP1B2 805 ATPase, Na+/K+ transporting, beta 2 polypeptide NM_001678.4 1 3378 873 NP_001669.3 P14415 substitution intron GRCh37 7559022 7559022 Chr17(GRCh37):g.7559022A>C 709-27 709-27 NM_001678.4:c.709-27A>C p.? p.? 7 6 182331 -27 3' 81.1347 6.62631 0.753843 12.081 81.1347 6.62631 0.753843 12.1703 0 rs200592951 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001419 0.000292 0.001249 0.000691 0.000000 0.000032 0.002474 0.000505 0.001394 0.002474 393 7 43 7 0 1 313 13 9 276894 23992 34414 10134 18862 30772 126518 25744 6458 0.000014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 389 7 43 7 0 1 309 13 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8574 4404 12978 26 2 28 0.00302326 0.000453926 0.00215285 0.00302326 0.000453926 0.00215285 56 transversion A C A>C 0.000 -0.279 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.53571427 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 140.0 . . . 0.0005 0.0022 0.003 0.0005 0.0022 0.003 . 0.3793 . . . . . . . . 1.318e-03 . . . 0.0003 0.0014 0.0007 0 0.0003 0.0028 0 0 0.0003 0.0011 0.0007 0 0.0002 0.0020 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.26 0.37 182 ENSG00000129244 ATP1B2 ATP1B2 . . . . . . 121 0.00186223 64976 120 0.00200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200592951 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv457659 0.002153 . . . . . 0.0003 0.0014 0.0012 0.0007 0 0.0005 0.0025 0.0013 3.25e-05 0.0002 0.0013 0.0024 0 0 0.0003 0.0022 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.003 . . rs200592951 rs200592951 1 1538 10 1/0 0,247,255 +rs201995447 17 7943326 G A - ALOX15B 434 Arachidonate 15-lipoxygenase, type B NM_001141.2 1 2716 2031 NP_001132.2 O15296 substitution intron GRCh37 7943326 7943326 Chr17(GRCh37):g.7943326G>A 449+25 449+25 NM_001141.2:c.449+25G>A p.? p.? 3 3 603697 25 5' 69.5686 4.09438 0.273718 3.35498 69.5686 4.09438 0.273718 3.01979 0 rs201995447 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000800 0.001000 0.000000 0.002000 0.002900 0.002363 0.000419 0.000939 0.010331 0.000000 0.002210 0.002996 0.002038 0.001728 0.010331 644 10 32 101 0 67 371 52 11 272514 23838 34080 9776 18802 30318 123818 25518 6364 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 640 10 32 101 0 67 367 52 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4403 12984 19 3 22 0.0022093 0.00068089 0.00169153 0.0022093 0.00068089 0.00169153 29 transition G A G>A 0.008 2.304 255 PASS . 0.0005 0.0028 . . 0.0008 0.0012 0.0029 . 0.002 0.001 . . . . . 0.43333334 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . 0.0007 0.0017 0.0022 0.0007 0.0017 0.0022 . 0.4405 . . . . . . . . 2.376e-03 . . . 0.0007 0.0028 0.0010 0 0.0016 0.0046 0 0.0023 0.0007 0.0023 0.0010 0 0.0020 0.0033 0 0.0023 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.27 0.45 182 ENSG00000179593 ALOX15B ALOX15B . . . . . . 81 0.00124661 64976 75 0.00125029 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201995447 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833352 0.001692 . . . . III.48 0.0003 0.0025 0.0009 0.0102 0 0.0020 0.0031 0.0013 0.0022 0.0006 0.0017 0.0012 0.0132 0 0.0020 0.0021 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs201995447 rs201995447 1 1538 10 1/0 0,255,255 +. 17 7983741 T C - ALOX12B 430 Arachidonate 12-lipoxygenase, 12R type NM_001139.2 -1 2502 2106 NP_001130.1 O75342 substitution intron GRCh37 7983741 7983741 Chr17(GRCh37):g.7983741T>C 651-85 651-85 NM_001139.2:c.651-85A>G p.? p.? 6 5 603741 -85 3' 77.2399 5.26293 0.853123 IV.29 77.2399 5.26293 0.853123 IV.29 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 240592 14732 33178 9716 16984 30624 107852 22120 5386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 62 Exomes transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . ENSG00000214999:ENST00000399413:exon2:c.T422C:p.L141S . . . . 0.59090906 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . INTRON(MODIFIER||||ALOX12B|mRNA|CODING|NM_001139|) . . . . . . . -0.6860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intronic . . . @ . . . . . . ENSG00000214999 BC046191 ALOX12B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VI.64 . ENST00000399413 IV.14 -2.43 . 0.000000 . . . . . . . . . . 0 4.156e-06 0 0 0 0 9.272e-06 0 0 . . . . . . . . . . . . -0.281 -0.281000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -0.281 . . . . . . 1 1538 10 1/0 0,255,255 +. 17 8725214 A AG - PIK3R6 27101 Phosphoinositide-3-kinase regulatory subunit 6 NM_001010855.2 -1 3041 2265 NP_001010855.1 Q5UE93 duplication frameshift exon NG_033091.1 50781 50782 NG_033091.1:g.50781dup 1828 1828 NM_001010855.2:c.1828dup p.Leu610Profs*22 p.Leu610Profs*22 17 611462 40 3' 81.5472 8.64845 0.981878 XI.08 81.5472 8.64845 0.981878 9.77757 0 rs56322041 yes no Frequency/1000G 2 0.000000 0 0.999601 1.000000 1.000000 1.000000 0.998000 1.000000 0.999967 1.000000 0.999968 1.000000 0.999942 1.000000 0.999964 0.999956 0.999829 1.000000 245830 21306 31507 9500 17113 27042 110688 22813 5861 245838 21306 31508 9500 17114 27042 110692 22814 5862 0.999935 1.000000 0.999937 1.000000 0.999883 1.000000 0.999928 0.999912 0.999659 122911 10653 15753 4750 8556 13521 55342 11406 2930 8 0 1 0 1 0 4 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7 7 14 7959 3797 11756 0.000878735 0.00184017 0.00118946 0.999121 0.99816 0.998811 33 C 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . PIK3R6:uc002glq.1:exon18:c.1825dupC:p.L609fs UNKNOWN . . 0.96511626 . . . 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 86 . . . . . . 1. 1. 1. . . . . . . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1 1 1 0.9998 1.0000 1 1 1 1.0000 1 1 . frameshift_insertion unknown . . . splicing exonic exonic . . . . . . . . . . ENSG00000174083 PIK3R6 PIK3R6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397775164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1.0000 1 0.9999 0.9999 1.0000 0.9998 1 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs56322041 rs56322041 1 1538 255 1.I 0,0,255 +rs201000246 17 9546560 T C - CFAP52 16053 Cilia and flagella associated protein 52 NM_145054.4 1 2193 1863 NP_659491.4 Q8N1V2 substitution 3'UTR GRCh37 9546560 9546560 Chr17(GRCh37):g.9546560T>C *45 *45 NM_145054.4:c.*45T>C p.? p.? 14 609804 221 3' 98.1858 XI.05 0.997137 10.1212 98.1858 XI.05 0.997137 10.1212 0 rs201000246 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000467 0.000047 0.000000 0.000000 0.001635 0.000597 0.000568 0.000130 0.000434 0.001635 97 1 0 0 23 9 59 3 2 207592 21314 19578 6106 14064 15070 103856 22994 4610 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 97 1 0 0 23 9 59 3 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 86 transition T C T>C 0.000 -2.216 255 PASS . 0.0005 . 0.0017 . . 0.0002 . 0.001 . . . . . . . 0.4651163 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 43.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.4268 . . . . . . . . 4.978e-04 . . . 0 0.0002 0 0.0005 0 0.0002 0 0.0004 0 0.0006 0 0.0010 0.0002 0.0008 0 0.0004 . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0002 . . . 0.42 0.69 182 ENSG00000265349 WDR16 CFAP52 . . . . . . 7 0.000107732 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201000246 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0 0.0005 0 0 0.0014 0.0002 0.0006 0.0006 0.0006 0.0001 0.0004 0 0 0.0037 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs201000246 rs201000246 1 1538 10 1/0 0,255,255 +rs764930248 17 9613333 C T - USP43 20072 Ubiquitin specific peptidase 43 NM_153210.4 1 4165 3372 NP_694942.3 Q70EL4 substitution missense exon GRCh37 9613333 9613333 Chr17(GRCh37):g.9613333C>T 2072 2072 NM_153210.4:c.2072C>T p.Pro691Leu p.Pro691Leu 13 61 3' 75.9035 1.37911 0.000686 0 75.9035 1.37911 0.000686 0 0 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 rs764930248 yes no Frequency 1 C 0.000000 0 0.000024 0.000000 0.000035 0.000000 0.000000 0.000000 0.000043 0.000000 0.000000 0.000043 6 0 1 0 0 0 5 0 0 249634 21608 28436 9456 15192 26704 117188 25422 5628 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 1.013 P Pro CCG 0.115 L Leu CTG 0.404 691 12 7 Zebrafish -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 138.74 50.17 Tolerated 0.09 II.90 255 PASS . . . . . . . . . . . . . . . . 0.42696628 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.222 . @ . . . . . 1 0.117 . . 89.0 . . . . . . . . . . -0.6952 -0.664 -0.695 c . . . . . 1.598e-05 . . . 0 2.297e-05 8.672e-05 0 0 2.419e-05 0 0 0 1.95e-05 8.941e-05 0 0 1.866e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.304 . . exonic exonic exonic . . 0.371 @ . . . . . . ENSG00000154914 USP43 USP43 . . . 0.001 0.077 . . . . . . . Uncertain_significance . 0 . 0.222 . . . . T 0.199 0.007 . . 37 . 0.227 . . 0.144 . . . 0.299 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.765 . . 0 0 0 0 0 0 . 0.206 . . 0.173 . . . . . . 0 0.164 . . . . . 0.474 . 0.434 . HET 0.06 rs764930248 . . . . . . . . . . . . 11.1279 . ENST00000285199 V.51 III.33 . 0.270000 . . . Name\x3dnsv833358 . . 0.130 . . III.33 0 1.372e-05 3.623e-05 0 0 0 1.957e-05 0 0 0 9.691e-05 0 0 0 0 0.0002 0 . . 0.310 . 1.399 1.399000 . . 0.270000 . . 1.0E-255 0.000 0.063 . 0.124 0.155 . 0.092 . 0.445 1.399 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs74781025 17 9923310 G C - GAS7 4169 Growth arrest-specific 7 NM_201433.1 -1 8211 1431 NP_958839.1 O60861 substitution intron GRCh37 9923310 9923310 Chr17(GRCh37):g.9923310G>C 184-96 184-96 NM_201433.1:c.184-96C>G p.? p.? 2 1 603127 -96 3' 87.5076 X.41 0.989098 9.35703 87.5076 X.41 0.989098 9.35703 0 New Donor Site 9923311 V.05 0.120819 62.5823 rs74781025 yes no Frequency/1000G 2 G 0.000000 0 0.038538 0.000000 0.035800 0.152800 0.000000 0.005800 0.009138 0.001375 0.005967 0.000000 0.151852 0.000000 0.000733 0.000572 0.007128 0.151852 283 12 5 0 246 0 11 2 7 30968 8726 838 302 1620 0 15006 3494 982 0.049470 0.000000 0.000000 0.000000 0.056911 0.000000 0.000000 0.000000 0.000000 14 0 0 0 14 0 0 0 0 255 12 5 0 218 0 11 2 7 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion C G C>G 0.000 0.609 255 PASS . 0.04 0.0028 0.15 . . 0.038 0.0058 0.15 . 0.036 . . . . . 0.4814815 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . 0.0912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . 0.0385 . . . 0.5 0.48 182 ENSG00000007237 GAS7 GAS7 . uc010vvd.1:c.-57C>G . . . . 230 0.00353977 64976 37 0.000616811 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74781025 0.033 0.022 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv38n68 . . . . . . . . . . . . . . . 0.0014 0.0091 0.0060 0 0.1519 0.0006 0.0007 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.15 . . rs74781025 rs74781025 1 1538 10 1/0 0,255,255 +rs2520178 17 10595388 A G - SCO1 10603 SCO1 cytochrome c oxidase assembly protein NM_004589.3 -1 1754 906 NP_004580.1 O75880 substitution intron GRCh37 10595388 10595388 Chr17(GRCh37):g.10595388A>G 563-107 563-107 NM_004589.3:c.563-107T>C p.? p.? 4 3 603644 -107 3' 81.0469 7.01103 0.8061 4.05121 81.0469 7.01103 0.8061 4.05121 0 rs2520178 yes no Frequency/1000G 2 G 0.000000 0 0.998802 1.000000 0.994900 1.000000 1.000000 0.998600 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30977 8732 838 302 1620 0 15011 3494 980 30978 8732 838 302 1620 0 15012 3494 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15488 4366 419 151 810 0 7505 1747 490 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition T C T>C 0.000 -0.117 111 PASS 0.96 0.99 1. 0.99 1. 1. 1. 1. 1. 1. 0.99 . . . . . 1.0 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||SCO1|mRNA|CODING|NM_004589|) . . . . . . . -0.0408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.22 0.11 182 ENSG00000133028 SCO1 SCO1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2520178 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs2520178 rs2520178 rs2520178 rs2520178 1 1538 255 1.I 0,0,255 +rs111358990 17 12659790 C T - MYOCD 16067 Myocardin NM_001146312.2 1 8565 2961 NP_001139784.1 substitution synonymous exon GRCh37 12659790 12659790 Chr17(GRCh37):g.12659790C>T 2118 2118 NM_001146312.2:c.2118C>T p.His706= p.His706His 11 606127 60 3' 92.9052 12.0417 0.967613 X.97 92.9052 12.0417 0.967613 9.92381 0 rs111358990 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.004100 0.000000 0.007000 0.001400 0.004565 0.000421 0.001129 0.001982 0.000000 0.004469 0.007383 0.006245 0.002625 0.007383 839 7 28 17 0 102 545 127 13 183774 16610 24802 8576 11858 22822 73818 20336 4952 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000108 0.000197 0.000000 6 0 0 0 0 0 4 2 0 827 7 28 17 0 102 537 123 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3168 1382 4550 14 2 16 0.00439975 0.00144509 0.00350416 0.00439975 0.00144509 0.00350416 52 transition C T C>T 0.205 0.448 H His CAC 0.587 H His CAT 0.413 706 255 PASS . 0.0037 0.0028 . 0.01 . 0.0024 0.0014 . 0.007 0.0041 . . MYOCD:NM_001146312:exon11:c.C2118T:p.H706H . . 0.54285717 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . . 0.0014 0.0035 0.0044 0.0014 0.0035 0.0044 . 0.2677 . . . . . . . . 4.254e-03 . . . 0.0008 0.0046 0.0023 0 0.0135 0.0059 0.0051 0.0044 0.0011 0.0043 0 0 0.0069 0.0050 0 0.0044 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.36 0.31 182 . MYOCD MYOCD . . . . . . 350 0.0053866 64976 338 0.00563465 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs111358990 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3desv34095 0.003504 . . . . . 0.0004 0.0043 0.0011 0.0021 0 0.0057 0.0067 0.0020 0.0045 0.0005 0.0061 0.0012 0 0 0.0087 0.0100 0.0052 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs111358990 rs111358990 1 1538 10 1/0 0,255,255 +rs111687632 17 12855909 A G - ARHGAP44 29096 Rho GTPase activating protein 44 NM_014859.5 1 4257 2457 NP_055674.4 Q17R89 substitution intron GRCh37 12855909 12855909 Chr17(GRCh37):g.12855909A>G 1136+11 1136+11 NM_014859.5:c.1136+11A>G p.? p.? 13 13 617716 11 5' 91.0858 X.17 0.993675 6.47257 91.0858 X.17 0.993675 7.01399 0 rs111687632 yes no Frequency/1000G 2 A 0.000000 0 0.004593 0.000000 0.003100 0.000000 0.009900 0.014400 0.009024 0.001892 0.024769 0.001148 0.000157 0.004414 0.009622 0.007154 0.008911 0.024769 1733 33 633 10 2 102 766 142 45 192034 17442 25556 8708 12718 23106 79606 19848 5050 0.000229 0.000000 0.001096 0.000000 0.000000 0.000087 0.000126 0.000000 0.000792 22 0 14 0 0 1 5 0 2 1689 33 605 10 2 100 756 142 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8138 3763 11901 68 11 79 0.00828662 0.00291468 0.00659432 0.00828662 0.00291468 0.00659432 48 transition A G A>G 0.000 -2.619 255 PASS . 0.01 0.02 . 0.01 . 0.0046 0.014 . 0.0099 0.0031 . . . . . 0.3846154 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . INTRON(MODIFIER||||ARHGAP44|mRNA|CODING|NM_014859|) 0.0029 0.0066 0.0083 0.0029 0.0066 0.0083 . -0.4682 . . . . . . . . 5.316e-03 . . . 0.0031 0.0091 0.0518 0 0.0482 0.0114 0.0142 0.0044 0.0036 0.0085 0.0581 0 0.0119 0.0103 0.0153 0.0044 . . . . . . intronic intronic intronic . . . 0.0046 . . . 0.26 0.36 182 ENSG00000006740 ARHGAP44 ARHGAP44 . . . . . . 407 0.00626385 64976 384 0.00640149 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111687632 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833372 0.006594 . . . . . 0.0011 0.0091 0.0248 0.0012 0.0002 0.0071 0.0088 0.0088 0.0044 0.0026 0.0089 0.0227 0 0 0.0074 0.0132 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs111687632 rs111687632 1 1538 10 1/0 0,255,255 +rs141406384 17 13927814 A T - CDRT15P1 33168 CMT1A duplicated region transcript 15 pseudogene 1 NR_003261.1 1 1101 0 substitution upstream GRCh37 13927814 13927814 Chr17(GRCh37):g.13927814A>T -1 -1 NR_003261.1:n.-1A>T p.? p.? 1 rs141406384 yes no Frequency/1000G 2 0.000000 0 0.000556 0.000521 0.000000 0.000000 0.000921 0.000000 0.000300 0.001326 0.002353 0.001326 15 4 0 0 1 0 4 4 2 26988 7682 780 260 1086 0 13314 3016 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 4 0 0 1 0 4 4 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion A T A>T 0.020 0.044 237 PASS 0.08 0.1 0.07 0.13 0.1 . . . . . . . . . . . 0.2777778 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 18.0 . . . . . . . . . . -0.3866 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream upstream . . . @ . . . 0.47 0.09 182 ENSG00000236088 CDRT15P1 CDRT15P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141406384 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0 0 0.0009 0.0013 0.0003 0.0024 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.13 . . rs141406384 rs141406384 1 1538 10 1/0 0,255,255 +rs62052315 17 13928134 C A - CDRT15P1 33168 CMT1A duplicated region transcript 15 pseudogene 1 NR_003261.1 1 1101 0 substitution exon GRCh37 13928134 13928134 Chr17(GRCh37):g.13928134C>A 320 320 NR_003261.1:n.320C>A 1 rs62052315 yes no Frequency 1 0.000000 0 0.007138 0.017246 0.009409 0.000000 0.017979 0.000000 0.002414 0.001233 0.003597 0.017979 186 120 7 0 21 0 31 4 3 26058 6958 744 266 1168 0 12844 3244 834 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 120 7 0 21 0 31 4 3 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion C A C>A 0.000 -0.844 208 PASS . . . . . . . . . . . . . . . . 0.17948718 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 156.0 . . . . . . . . . . -0.6478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.05 0.06 182 . CDRT15P1 CDRT15P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62052315 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0172 0.0071 0.0094 0 0.0180 0.0012 0.0024 0.0036 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.022 rs62052315 rs62052315 rs62052315 rs199505478 1 1538 10 1/0 0,214,255 +rs879420889 17 13928790 G C - CDRT15P1 33168 CMT1A duplicated region transcript 15 pseudogene 1 NR_003261.1 1 1101 0 substitution exon GRCh37 13928790 13928790 Chr17(GRCh37):g.13928790G>C 976 976 NR_003261.1:n.976G>C 1 rs879420889 no no 0 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.000000 0.000000 0.000500 0.003049 0.000000 0.003049 10 0 0 0 0 0 4 6 0 16700 4726 544 144 824 0 7998 1968 496 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 4 6 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transversion G C G>C 0.059 0.286 216 PASS . . . . . . . . . . . . . . . . 0.20689656 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . . . . . . . . . -0.3183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.24 0.11 182 ENSG00000141028 CDRT15P1 CDRT15P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0.0030 0.0005 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs62052128 rs62052128 rs62052128 rs62052128 1 1538 10 1/0 0,255,255 +rs746945941 17 15522426 G A - CDRT1 14379 CMT1A duplicated region transcript 1 NM_006382.3 -1 2763 2259 NP_006373.2 O95170 substitution missense exon GRCh37 15522426 15522426 Chr17(GRCh37):g.15522426G>A 401 401 NM_006382.3:c.401C>T p.Ala134Val p.Ala134Val 1 604596 -105 5' 82.0699 7.82294 0.983155 6.92788 82.0699 7.82294 0.983155 6.92788 0 Cryptic Donor Strongly Activated 15522428 75.6263 6.37814 0.760556 83.1794 rs746945941 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000060 0.000000 0.000000 0.000032 0.000009 0.000000 0.000000 0.000060 4 0 2 0 0 1 1 0 0 245942 15292 33582 9850 17248 30782 111408 22300 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 68 Exomes transition C T C>T 0.961 2.142 A Ala GCG 0.107 V Val GTG 0.468 134 12 7 Frog 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0.02 II.94 255 PASS . . . . . . . . . . . ENSG00000241322:ENST00000395906:exon1:c.C401T:p.A134V CDRT1:uc002gov.4:exon1:c.C401T:p.A134V . . . 0.4011976 . . @ 67 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.951 . . 167.0 . . . . . . . . . . 0.4029 0.311 0.403 c . . . . . 7.893e-06 . . . 0 1.106e-05 0 0 0 2.379e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.227 . . exonic exonic exonic . . 0.423 @ . . . . . . ENSG00000241322 CDRT1 CDRT1 . . . 0.004 0.103 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.269 0.010 . . 37 . 0.441 . . 0.324 . . . 0.440 0.333 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.899 . . 0.782 . . . . . . 0 0.443 . . . . . 0.569 . 0.414 . HET 0.03 rs746945941 . . . . . . . . . . . . XII.34 . . IV.77 III.77 . 0.090000 O95170 . . Name\x3dnsv457695 . . 0.387 . . III.77 0 1.626e-05 5.956e-05 0 0 0 8.976e-06 0 3.249e-05 . . . . . . . . . . 0.133 . 2.363 2.363000 . . 0.090000 . . 1.0E-255 0.998 0.411 . 0.507 0.726 . 0.506 . 0.602 2.363 0.069 . . . . . 1 1538 10 1/0 0,230,255 +rs113830160 17 15641449 A G - TBC1D26 28745 TBC1 domain family, member 26 NM_178571.4 1 1869 753 NP_848666.2 Q86UD7 substitution intron GRCh37 15641449 15641449 Chr17(GRCh37):g.15641449A>G 279+58 279+58 NM_178571.4:c.279+58A>G p.? p.? 6 6 58 5' 81.6684 8.92197 0.871676 5.97771 81.6684 8.92197 0.871676 V.67 0 rs113830160 no no 0 G 0.000000 0 0.004001 0.004752 0.013393 0.000000 0.017958 0.000000 0.002392 0.001982 0.006083 0.017958 103 33 9 0 19 0 31 6 5 25744 6944 672 260 1058 0 12960 3028 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 33 9 0 19 0 31 6 5 0 0 0 0 0 0 0 0 0 RF 55 Genomes transition A G A>G 0.000 -2.216 184 PASS . . . . . . . . . . . . . . . . 0.12162162 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||TBC1D26|mRNA|CODING|NM_178571|) . . . . . . . -0.7328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.71 182 ENSG00000233002 TBC1D26 TBC1D26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs113830160 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0040 0.0134 0 0.0180 0.0020 0.0024 0.0061 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.043 . . rs113830160 rs113830160 1 1538 10 1/0 0,211,255 +. 17 15641457 T C - TBC1D26 28745 TBC1 domain family, member 26 NM_178571.4 1 1869 753 NP_848666.2 Q86UD7 substitution intron GRCh37 15641457 15641457 Chr17(GRCh37):g.15641457T>C 279+66 279+66 NM_178571.4:c.279+66T>C p.? p.? 6 6 66 5' 81.6684 8.92197 0.871676 5.97771 81.6684 8.92197 0.871676 6.30426 0 rs999495817 no no 0 T 0.000000 0 0.006069 0.006860 0.019118 0.000000 0.027833 0.000000 0.003965 0.003014 0.007407 0.027833 152 46 13 0 28 0 50 9 6 25046 6706 680 248 1006 0 12610 2986 810 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 152 46 13 0 28 0 50 9 6 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition T C T>C 0.000 -1.086 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . INTRON(MODIFIER||||TBC1D26|mRNA|CODING|NM_178571|) . . . . . . . -0.4823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000233002 TBC1D26 TBC1D26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0069 0.0061 0.0191 0 0.0278 0.0030 0.0040 0.0074 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +. 17 15641459 G T - TBC1D26 28745 TBC1 domain family, member 26 NM_178571.4 1 1869 753 NP_848666.2 Q86UD7 substitution intron GRCh37 15641459 15641459 Chr17(GRCh37):g.15641459G>T 279+68 279+68 NM_178571.4:c.279+68G>T p.? p.? 6 6 68 5' 81.6684 8.92197 0.871676 5.97771 81.6684 8.92197 0.871676 5.86566 0 rs1035975249 no no 0 G 0.000000 0 0.006237 0.007465 0.020468 0.000000 0.026217 0.000000 0.004007 0.002978 0.007246 0.026217 161 52 14 0 28 0 52 9 6 25812 6966 684 266 1068 0 12978 3022 828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 161 52 14 0 28 0 52 9 6 0 0 0 0 0 0 0 0 0 RF 55 Genomes transversion G T G>T 0.000 0.448 181 PASS . . . . . . . . . . . . . . . . 0.11486486 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||TBC1D26|mRNA|CODING|NM_178571|) . . . . . . . -0.1371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000233002 TBC1D26 TBC1D26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0075 0.0062 0.0205 0 0.0262 0.0030 0.0040 0.0072 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +rs112677849 17 15641462 A G - TBC1D26 28745 TBC1 domain family, member 26 NM_178571.4 1 1869 753 NP_848666.2 Q86UD7 substitution intron GRCh37 15641462 15641462 Chr17(GRCh37):g.15641462A>G 279+71 279+71 NM_178571.4:c.279+71A>G p.? p.? 6 6 71 5' 81.6684 8.92197 0.871676 5.97771 81.6684 8.92197 0.871676 6.32343 0 rs112677849 no no 0 A 0.000000 0 0.007328 0.009292 0.022124 0.000000 0.030273 0.000000 0.004684 0.003365 0.007481 0.030273 184 63 15 0 31 0 59 10 6 25108 6780 678 256 1024 0 12596 2972 802 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 184 63 15 0 31 0 59 10 6 0 0 0 0 0 0 0 0 0 RF 56 Genomes transition A G A>G 0.000 -0.763 172 PASS . . . . . . . . . . . . . . . . 0.12837838 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||TBC1D26|mRNA|CODING|NM_178571|) . . . . . . . -0.3616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.4 0.64 182 ENSG00000233002 TBC1D26 TBC1D26 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112677849 0.065 0.080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0093 0.0073 0.0221 0 0.0303 0.0034 0.0047 0.0075 . . . . . . . . . . . 1.0E-172 . . . . . . . . . . . 0.065 . . rs112677849 rs112677849 1 1538 10 1/0 0,212,255 +rs200311165 17 16068464 G A - NCOR1 7672 Nuclear receptor corepressor 1 NM_006311.3 -1 9794 7323 NP_006302.2 O75376 substitution synonymous exon GRCh37 16068464 16068464 Chr17(GRCh37):g.16068464G>A 447 447 NM_006311.3:c.447C>T p.Phe149= p.Phe149Phe 5 600849 12 3' 86.5451 7.01513 0.91886 7.01302 86.5451 7.01513 0.90545 6.72855 -0.00486472 rs200311165 yes no Frequency 1 G 0.000000 0 0.000550 0.000800 0.000715 0.000507 0.001204 0.000571 0.000385 0.000398 0.000835 0.001204 144 18 22 5 21 16 47 10 5 261630 22504 30778 9862 17448 28018 121930 25102 5988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 144 18 22 5 21 16 47 10 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4129611|COSM4129611|COSM4129611 Upper aerodigestive tract|Thyroid|Large intestine 0.000733|0.001339|0.000444 1364|747|2251 transition C T C>T 1.000 1.013 F Phe TTC 0.546 F Phe TTT 0.454 149 237 PASS . . . . . . . . . . . . . . . . 0.27027026 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . I.07 . . . . . . . . 3.157e-05 . . . 9.773e-05 4.427e-05 0 0.0002 0 4.773e-05 0 0 0 1.89e-05 0 0.0001 0 1.848e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.65 0.46 182 ENSG00000141027 NCOR1 NCOR1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200311165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.96 0.0003 0.0003 0.0006 0.0004 0.0006 4.523e-05 0.0001 0.0008 0.0006 0.0017 0.0026 0.0041 0.0034 0.0098 0.0030 0.0023 0.0012 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . rs1998943 rs1998943 rs1998943 rs1998943 1 1538 10 1/0 0,255,255 +rs748446677 17 16346857 A T - LRRC75A 32403 Leucine rich repeat containing 75A NM_001113567.2 -1 2819 1035 NP_001107039.1 Q8NAA5 substitution 3'UTR GRCh37 16346857 16346857 Chr17(GRCh37):g.16346857A>T *45 *45 NM_001113567.2:c.*45T>A p.? p.? 4 589 3' 90.2297 X.85 0.987759 XII.05 90.2297 X.85 0.987759 XII.05 0 rs748446677 yes no Frequency 1 A 0.000000 0 0.000109 0.000067 0.000000 0.000000 0.000000 0.000000 0.000244 0.000000 0.000000 0.000244 13 1 0 0 0 0 12 0 0 119166 15014 16040 3114 10398 10834 49140 11424 3202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 0 0 0 0 12 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 30.0 . . . . . . . . . . 0.3808 . . . . . . . . 3.298e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic UTR3 ncRNA_intronic . . . @ . . . . . . ENSG00000175061 FAM211A LRRC75A-AS1 . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748446677 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2715702 . . . . . . 0.0002 0.0001 0 0 0 0 0.0003 0 0 0 6.459e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs748446677 17 16346857 A T - LRRC75A-AS1 28619 LRRC75A antisense RNA 1 NR_027162.1 1 1391 0 substitution downstream GRCh37 16346857 16346857 Chr17(GRCh37):g.16346857A>T *1515 *1515 NR_027162.1:n.*1515A>T p.? p.? 5 2176 3' 0 4.21841 0.96183 1.79634 0 4.21841 0.96183 1.79634 0 Cryptic Acceptor Strongly Activated 16346872 4.43124 0.00127 72.4078 5.69521 0.00295 72.4078 rs748446677 yes no Frequency 1 A 0.000000 0 0.000109 0.000067 0.000000 0.000000 0.000000 0.000000 0.000244 0.000000 0.000000 0.000244 13 1 0 0 0 0 12 0 0 119166 15014 16040 3114 10398 10834 49140 11424 3202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 1 0 0 0 0 12 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 30.0 . . . . . . . . . . 0.3808 . . . . . . . . 3.298e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic UTR3 ncRNA_intronic . . . @ . . . . . . ENSG00000175061 FAM211A LRRC75A-AS1 . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs748446677 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2715702 . . . . . . 0.0002 0.0001 0 0 0 0 0.0003 0 0 0 6.459e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879191911 17 16624049 T C - CCDC144A 29072 Coiled-coil domain containing 144A NM_014695.2 1 5830 4284 NP_055510.1 A2RUR9 substitution intron GRCh37 16624049 16624049 Chr17(GRCh37):g.16624049T>C 1891+77 1891+77 NM_014695.2:c.1891+77T>C p.? p.? 8 8 77 5' 84.2838 9.45172 0.966865 0 84.2838 9.45172 0.966865 0 0 rs879191911 no no 0 T 0.000000 0 0.000200 0.000239 0.000000 0.000000 0.000000 0.000000 0.000205 0.000294 0.000000 0.000294 6 2 0 0 0 0 3 1 0 30004 8364 816 294 1502 0 14654 3406 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition T C T>C 0.024 1.174 224 PASS . . . . . . . . . . . . . . . . 0.22916667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . 0.0673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic intronic . . . @ . . . 0.4 0.33 182 . USP32P1 CCDC144A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.II . . . . . . . . . 0.0002 0.0002 0 0 0 0.0003 0.0002 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs2649257 rs2649257 rs2649257 rs2649257 1 1538 10 1.I 0,0,0 +rs150874158 17 17715911 G T - MIR33B 32791 MicroRNA 33b NR_030361.1 -1 96 0 substitution downstream GRCh37 17715911 17715911 Chr17(GRCh37):g.17715911G>T *1239 *1239 NR_030361.1:n.*1239C>A p.? p.? 1 613486 rs150874158 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.003439 0.000897 0.001076 0.000110 0.000000 0.001474 0.003589 0.015318 0.003532 0.015318 740 17 32 1 0 38 327 306 19 215208 18956 29750 9072 15176 25786 91112 19976 5380 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000300 0.000000 3 0 0 0 0 0 0 3 0 734 17 32 1 0 38 327 300 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4369 12900 17 1 18 0.00198877 0.000228833 0.0013934 0.00198877 0.000228833 0.0013934 38 transversion C A C>A 0.213 1.497 255 PASS . 0.0032 0.01 . 0.01 . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5925926 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . I.38 . . . . . . . . 2.433e-03 . . . 0.0012 0.0035 0.0026 0 0.0304 0.0050 0.0037 0.0021 0.0010 0.0047 0.0023 0 0.0321 0.0076 0.0051 0.0021 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.51 0.42 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . 252 0.00387836 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150874158 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.001393 . . . . II.15 0.0008 0.0032 0.0010 0.0001 0 0.0148 0.0034 0.0032 0.0015 0.0010 0.0048 0.0024 0 0 0.0177 0.0047 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150874158 rs150874158 1 1538 10 1/0 0,255,255 +rs150874158 17 17715911 G T - MIR6777 50173 MicroRNA 6777 NR_106835.1 -1 66 0 substitution downstream GRCh37 17715911 17715911 Chr17(GRCh37):g.17715911G>T *883 *883 NR_106835.1:n.*883C>A p.? p.? 1 rs150874158 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.003439 0.000897 0.001076 0.000110 0.000000 0.001474 0.003589 0.015318 0.003532 0.015318 740 17 32 1 0 38 327 306 19 215208 18956 29750 9072 15176 25786 91112 19976 5380 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000300 0.000000 3 0 0 0 0 0 0 3 0 734 17 32 1 0 38 327 300 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4369 12900 17 1 18 0.00198877 0.000228833 0.0013934 0.00198877 0.000228833 0.0013934 38 transversion C A C>A 0.213 1.497 255 PASS . 0.0032 0.01 . 0.01 . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5925926 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . I.38 . . . . . . . . 2.433e-03 . . . 0.0012 0.0035 0.0026 0 0.0304 0.0050 0.0037 0.0021 0.0010 0.0047 0.0023 0 0.0321 0.0076 0.0051 0.0021 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.51 0.42 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . 252 0.00387836 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150874158 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.001393 . . . . II.15 0.0008 0.0032 0.0010 0.0001 0 0.0148 0.0034 0.0032 0.0015 0.0010 0.0048 0.0024 0 0 0.0177 0.0047 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150874158 rs150874158 1 1538 10 1/0 0,255,255 +rs150874158 17 17715911 G T - RAI1 9834 Retinoic acid induced 1 NM_030665.3 1 7662 5721 NP_109590.3 Q7Z5J4 substitution downstream GRCh37 17715911 17715911 Chr17(GRCh37):g.17715911G>T *2616 *2616 NM_030665.3:c.*2616G>T p.? p.? 6 607642 2628 3' 82.9046 7.71907 0.467181 2.53449 82.9046 7.71907 0.467181 2.53449 0 New Donor Site 17715909 6.46173 0.734581 79.6854 rs150874158 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.003439 0.000897 0.001076 0.000110 0.000000 0.001474 0.003589 0.015318 0.003532 0.015318 740 17 32 1 0 38 327 306 19 215208 18956 29750 9072 15176 25786 91112 19976 5380 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000300 0.000000 3 0 0 0 0 0 0 3 0 734 17 32 1 0 38 327 300 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4369 12900 17 1 18 0.00198877 0.000228833 0.0013934 0.00198877 0.000228833 0.0013934 38 transversion G T G>T 0.213 1.497 255 PASS . 0.0032 0.01 . 0.01 . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5925926 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . I.38 . . . . . . . . 2.433e-03 . . . 0.0012 0.0035 0.0026 0 0.0304 0.0050 0.0037 0.0021 0.0010 0.0047 0.0023 0 0.0321 0.0076 0.0051 0.0021 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.51 0.42 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . 252 0.00387836 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150874158 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.001393 . . . . II.15 0.0008 0.0032 0.0010 0.0001 0 0.0148 0.0034 0.0032 0.0015 0.0010 0.0048 0.0024 0 0 0.0177 0.0047 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150874158 rs150874158 1 1538 10 1/0 0,255,255 +rs150874158 17 17715911 G T - SREBF1 11289 Sterol regulatory element binding transcription factor 1 NM_001005291.2 -1 5001 3534 NP_001005291.1 substitution 3'UTR GRCh37 17715911 17715911 Chr17(GRCh37):g.17715911G>T *25 *25 NM_001005291.2:c.*25C>A p.? p.? 20 184756 255 3' 79.8245 7.82354 0.262657 9.63157 79.8245 7.82354 0.262657 9.63157 0 rs150874158 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.000000 0.001000 0.000000 0.008000 0.002900 0.003439 0.000897 0.001076 0.000110 0.000000 0.001474 0.003589 0.015318 0.003532 0.015318 740 17 32 1 0 38 327 306 19 215208 18956 29750 9072 15176 25786 91112 19976 5380 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000300 0.000000 3 0 0 0 0 0 0 3 0 734 17 32 1 0 38 327 300 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4369 12900 17 1 18 0.00198877 0.000228833 0.0013934 0.00198877 0.000228833 0.0013934 38 transversion C A C>A 0.213 1.497 255 PASS . 0.0032 0.01 . 0.01 . 0.0022 0.0029 . 0.008 0.001 . . . . . 0.5925926 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 81.0 . . . 0.0002 0.0014 0.002 0.0002 0.0014 0.002 . I.38 . . . . . . . . 2.433e-03 . . . 0.0012 0.0035 0.0026 0 0.0304 0.0050 0.0037 0.0021 0.0010 0.0047 0.0023 0 0.0321 0.0076 0.0051 0.0021 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.51 0.42 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . 252 0.00387836 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150874158 . 0.014 . . . . . . . . . . . . . . . . . . . . . 0.001393 . . . . II.15 0.0008 0.0032 0.0010 0.0001 0 0.0148 0.0034 0.0032 0.0015 0.0010 0.0048 0.0024 0 0 0.0177 0.0047 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150874158 rs150874158 1 1538 10 1/0 0,255,255 +rs7501788 17 17719503 G T - SREBF1 11289 Sterol regulatory element binding transcription factor 1 NM_001005291.2 -1 5001 3534 NP_001005291.1 substitution intron GRCh37 17719503 17719503 Chr17(GRCh37):g.17719503G>T 2304+18 2304+18 NM_001005291.2:c.2304+18C>A p.? p.? 12 12 184756 18 5' 74.2807 8.34018 0.922903 11.0773 74.2807 8.34018 0.922903 10.942 0 rs7501788 yes no Frequency/1000G 2 G 0.000000 0 0.573882 0.559000 0.550100 0.593300 0.587500 0.587900 transversion C A C>A 0.000 -1.328 255 PASS . . . . . 0.56 0.57 0.59 0.59 0.59 0.55 . . . . . 0.8888889 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 9.0 . . . . . . . . . . 0.0368 . . . . . . . . 8.060e-03 . . . 0 0.0286 0 . . 0.0333 0 0.0312 0 0.0854 0 0 . 0.1429 0 0.0312 . . . . . . intronic intronic intronic . . . 0.4261 . . . 0.37 0.06 182 ENSG00000072310 SREBF1 SREBF1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs7501788 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs7501788 rs7501788 rs7501788 rs7501788 1 1538 10 1/0 0,255,255 +rs775239369 17 17722635 G A - SREBF1 11289 Sterol regulatory element binding transcription factor 1 NM_001005291.2 -1 5001 3534 NP_001005291.1 substitution missense exon GRCh37 17722635 17722635 Chr17(GRCh37):g.17722635G>A 935 935 NM_001005291.2:c.935C>T p.Pro312Leu p.Pro312Leu 5 184756 -2 5' 76.6428 7.84954 0.534686 6.60469 77.0459 6.28946 0.251094 5.41452 -0.241292 rs775239369 yes no Frequency 1 G 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000033 0.000018 0.000000 0.000000 0.000033 3 0 0 0 0 1 2 0 0 243900 15214 33548 9792 17238 30768 109950 21940 5450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes transition C T C>T 1.000 1.900 P Pro CCG 0.115 L Leu CTG 0.404 312 12 4 Frog -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 134.70 55.05 Tolerated 0.21 II.95 good 6.261E-1 0.6075 255 PASS . . . . . . . . . . . . . . . . 0.43661973 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.338 . @ . . . . . 1 0.139 . . 142.0 . . . . . . . . . . -0.1862 -0.113 -0.186 c . . . . . 2.368e-05 . . . 0 2.224e-05 0 0 0 2.4e-05 0 6.078e-05 0 1.885e-05 0 0 0 1.84e-05 0 6.112e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.670 . . exonic exonic exonic . . 0.408 @ . . . . . . ENSG00000072310 SREBF1 SREBF1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.805 0.124 . . 37 . 0.657 . . 0.640 . . . 0.203 0.487 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.805 . . 0 0 0 0 0 0 . 0.378 . . 0.279 . . . . . . 0 0.512 . . . . . 0.421 . 0.261 . HET 0.26 rs775239369 . . . . . . . . . . . . X.19 . . IV.74 III.65 . 0.070000 . 0.0008 0.178 . . . 0.504 . . III.65 0 1.23e-05 0 0 0 0 1.819e-05 0 3.25e-05 . . . . . . . . . . 0.854 . 0.669 0.669000 . . 0.070000 . . 1.0E-255 1.000 0.715 . 0.374 0.140 . 0.504 . 0.180 0.669 0.038 . . . . . 1 1538 10 1/0 0,242,255 +. 17 18047672 C CC - MYO15A 7594 Myosin XVA NM_016239.3 1 11863 10593 NP_057323.3 Q9UKN7 duplication intron GRCh37 18047673 18047674 Chr17(GRCh37):g.18047673dup 6178-138 6178-138 NM_016239.3:c.6178-138dup p.? p.? 29 28 602666 -137 3' 74.133 9.32103 0.859867 X.55 74.133 9.32103 0.859867 X.55 0 Cryptic Acceptor Strongly Activated 18047672 2.58143 0.001158 72.3797 3.45496 0.013428 72.3797 rs11421905 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999935 1.000000 1.000000 1.000000 0.998762 0.000000 1.000000 1.000000 1.000000 1.000000 30918 8726 838 302 1614 0 14970 3490 978 30920 8726 838 302 1616 0 14970 3490 978 0.499968 0.500000 0.500000 0.500000 0.499380 0.000000 0.500000 0.500000 0.500000 15458 4363 419 151 806 0 7485 1745 489 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.92 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25 . . INTRON(MODIFIER||||MYO15A|mRNA|CODING|NM_016239|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000091536 MYO15A MYO15A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs67891868 . . 1 1538 10 1.I 0,3,4 +rs202127880 17 18167400 G A - MIEF2 17920 Mitochondrial elongation factor 2 NM_148886.1 1 2441 1398 NP_683684.2 substitution synonymous exon GRCh37 18167400 18167400 Chr17(GRCh37):g.18167400G>A 720 720 NM_148886.1:c.720G>A p.Gln240= p.Gln240Gln 4 615498 377 3' 85.0021 X.84 0.956693 6.52959 85.0021 X.84 0.956693 6.52959 0 rs202127880 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.003100 0.000000 0.008000 0.002900 0.005181 0.000892 0.001587 0.001408 0.000144 0.006009 0.006502 0.017569 0.006045 0.017569 1014 16 43 12 2 153 563 194 31 195720 17944 27102 8520 13932 25460 86592 11042 5128 0.000082 0.000111 0.000000 0.000000 0.000000 0.000236 0.000046 0.000362 0.000000 8 1 0 0 0 3 2 2 0 998 14 43 12 2 147 559 190 31 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8403 4287 12690 33 3 36 0.00391181 0.000699301 0.00282885 0.00391181 0.000699301 0.00282885 8 transition G A G>A 0.992 0.125 Q Gln CAG 0.744 Q Gln CAA 0.256 240 255 PASS 0.0041 0.0041 0.01 . 0.01 . 0.0026 0.0029 . 0.008 0.0031 ENSG00000177427:ENST00000395704:exon4:c.G613A:p.A205T SMCR7:uc002gsu.3:exon4:c.G613A:p.A205T MIEF2:NM_001144900:exon4:c.G613A:p.A205T . . 0.43243244 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.129 . . 74.0 . . . 0.0007 0.0028 0.0039 0.0007 0.0028 0.0039 . -0.4681 -0.384 -0.468 c . . . . . 4.394e-03 . . . 0.0012 0.0077 0.0042 0 0.0227 0.0087 0.0194 0.0093 0.0015 0.0084 0.0034 0 0.0245 0.0090 0.0287 0.0095 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.360 . . exonic exonic exonic . . 0.372 0.0026 . . . 0.22 0.24 182 ENSG00000177427 SMCR7 MIEF2 . . . 0.983 0.305 . 414 0.00637158 64976 400 0.00666822 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.185 . . 0.174 . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.247 . . 0.208 . . . . . . 0 0.912 . . . . . 0.032 . . . HET 0 rs202127880 . 0.014 . . . . . 0.004120879120879121 0.0040650406504065045 0.0055248618784530384 0.0 0.006596306068601583 I.33 8.3E-4 ENST00000395704 V.32 III.34 . 0.000000 Q96C03-2 . . . 0.002829 . 0.389 . . III.34 0.0010 0.0047 0.0016 0.0015 0.0002 0.0169 0.0057 0.0048 0.0060 0.0008 0.0077 0.0024 0 0 0.0189 0.0101 0.0112 . . 0.450 . 0.633 0.633000 . . 0.000000 . . 1.0E-255 0.998 0.411 . 0.436 0.883 . 0.274 . 0.594 0.633 0.917 0.01 . . rs202127880 rs202127880 1 1538 10 1/0 0,255,255 +rs564721386 17 18325729 C T - KRT17P5 50723 Keratin 17 pseudogene 5 NR_001443.1 1 3153 0 substitution exon GRCh37 18325729 18325729 Chr17(GRCh37):g.18325729C>T 235 235 NR_001443.1:n.235C>T 1 rs564721386 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.002300 0.001000 0.000000 0.000000 0.000000 0.000430 0.002871 0.000170 0.000000 0.000000 0.000103 0.000024 0.000000 0.000329 0.002871 45 39 3 0 0 1 1 0 1 104568 13586 17622 3204 10114 9674 42092 5236 3040 0.000019 0.000147 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 43 37 3 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.198 196 PASS . . . . . 0.0023 0.0008 . . . 0.001 . LOC339240:uc002gtv.3:exon1:c.C147T:p.T49T . . . 0.15068494 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R79W|KRT17P5|Non-coding_transcript|NON_CODING|NR_001443|NR_001443.ex.1) . . . . . . . -0.5186 . . . . . . . . 7.806e-05 . . . 0.0135 0.0024 0 0 . 0 0 0 . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0008 . . . 0.49 0.22 182 ENSG00000205266 LOC339240 KRT17P5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs564721386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0003 0.0002 0 0 0 3.575e-05 0.0005 0.0001 0.0024 0.0007 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs7221579 rs7221579 rs7221579 rs7221579 1 1538 10 1/0 0,244,255 +. (chr17:18335183 GC/G) 17 18335183 GC G Not on a known gene +. 17 18396219 C CA - LGALS9C 33874 Lectin, galactoside-binding, soluble, 9C NM_001040078.2 1 1719 1071 NP_001035167.2 Q6DKI2 insertion intron GRCh37 18396219 18396220 Chr17(GRCh37):g.18396219_18396220insA 924+46 924+47 NM_001040078.2:c.924+46_924+47insA p.? p.? 10 10 46 5' 81.9389 X.11 0.995331 9.06988 81.9389 X.11 0.995331 9.97053 0 New Acceptor Site 18396221 3.21709 0.130108 75.5774 A 255 Pass . . . . . . . . . . . . . . . . 0.41618496 . . . 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 173 . . INTRON(MODIFIER||||LGALS9C|mRNA|CODING|NM_001040078|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000171916 LGALS9C LGALS9C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,38 +rs199985037 17 18454769 C T - CCDC144B 26704 Coiled-coil domain containing 144B (pseudogene) NR_036647.1 -1 8696 0 substitution intron GRCh37 18454769 18454769 Chr17(GRCh37):g.18454769C>T 4265+51 4265+51 NR_036647.1:n.4265+51G>A p.? p.? 15 15 51 5' 84.0391 5.60955 0.606711 0 84.0391 5.60955 0.606711 0 0 Cryptic Donor Strongly Activated 18454772 0.478633 0.003786 64.3379 3.95337 0.067761 68.7003 rs199985037 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24464 7814 710 224 1600 0 10830 2542 744 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 31 Genomes transition G A G>A 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 13.0 . . INTRON(MODIFIER||||CCDC144B|Non-coding_transcript|NON_CODING|NR_036647|) . . . . . . . -0.1963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.18 0.17 182 . . CCDC144B . dist\x3d9535\x3bdist\x3d51833 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199985037 0.087 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs4003809 rs4003809 rs4003809 rs199985037 1 1538 10 1/0 0,255,255 +. 17 18541852 A AGATGGTG - TBC1D28 26858 TBC1 domain family, member 28 NM_001039397.2 -1 1978 633 NP_001034486.2 Q2M2D7 insertion intron GRCh37 18541852 18541853 Chr17(GRCh37):g.18541852_18541853insGATGGTG 279+81 279+82 NM_001039397.2:c.279+81_279+82insCACCATC p.? p.? 7 7 81 5' 81.6684 8.92197 0.871676 7.35023 81.6684 8.92197 0.871676 7.18364 0 Cryptic Acceptor Strongly Activated 18541842 3.54273 0.014186 73.6093 3.77498 0.309236 78.8965 CACCATC 255 Pass . . . . . . . . . . . . . . . . 0.28723404 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 94 . . INTRON(MODIFIER||||TBC1D28|mRNA|CODING|NM_001039397|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000189375 TBC1D28 TBC1D28 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,54 +. 17 18541853 CCCACC C - TBC1D28 26858 TBC1 domain family, member 28 NM_001039397.2 -1 1978 633 NP_001034486.2 Q2M2D7 deletion intron GRCh37 18541853 18541857 Chr17(GRCh37):g.18541853_18541857del 279+77 279+81 NM_001039397.2:c.279+77_279+81del p.? p.? 7 7 77 5' 81.6684 8.92197 0.871676 7.35023 81.6684 8.92197 0.871676 7.30757 0 Cryptic Acceptor Strongly Activated 18541842 3.54273 0.014186 73.6093 5.90629 0.609687 76.433 rs796418289 no no 0 0.000000 0 0.583506 0.693782 0.657248 0.350746 0.939451 0.000000 0.485898 0.559689 0.550538 0.939451 17483 5936 535 94 1505 0 6960 1941 512 29962 8556 814 268 1602 0 14324 3468 930 0.310530 0.349899 0.338318 0.180851 0.469103 0.000000 0.251724 0.283874 0.283203 5429 2077 181 17 706 0 1752 551 145 6625 1782 173 60 93 0 3456 839 222 0 0 0 0 0 0 0 0 0 PASS 39 Genomes GTGGG 255 Pass . . . . . . . . . . . . . . . . 0.28421053 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 95 . . INTRON(MODIFIER||||TBC1D28|mRNA|CODING|NM_001039397|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000189375 TBC1D28 TBC1D28 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,55 +. 17 18544272 T TA - TBC1D28 26858 TBC1 domain family, member 28 NM_001039397.2 -1 1978 633 NP_001034486.2 Q2M2D7 duplication intron GRCh37 18544272 18544273 Chr17(GRCh37):g.18544273dup 158+62 158+62 NM_001039397.2:c.158+62dup p.? p.? 5 5 62 5' 75.895 9.06592 0.977409 4.71567 75.895 9.06592 0.977409 4.40384 0 Cryptic Acceptor Weakly Activated 18544270 5.73162 0.886768 84.0413 6.95631 0.905534 89.0845 rs374282374 no no 0 0.000000 0 0.001111 0.000000 0.005102 0.000000 0.000000 0.000000 0.001239 0.000873 0.006536 0.005102 11 0 1 0 0 0 7 1 2 9900 2334 196 128 142 0 5648 1146 306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 1 0 0 0 7 1 2 0 0 0 0 0 0 0 0 0 RF 33 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.53571427 . . . 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . INTRON(MODIFIER||||TBC1D28|mRNA|CODING|NM_001039397|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000189375 TBC1D28 TBC1D28 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374282374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0.0051 0 0 0.0009 0.0012 0.0065 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs5819539 rs5819539 rs5819539 1 1538 10 1.I 0,12,27 +rs199551168 17 18653021 T C - FBXW10 1211 F-box and WD repeat domain containing 10 NM_001267585.1 1 3442 3159 NP_001254514.1 Q5XX13 substitution intron GRCh37 18653021 18653021 Chr17(GRCh37):g.18653021T>C 671-14 671-14 NM_001267585.1:c.671-14T>C p.? p.? 3 2 611679 -14 3' 75.454 7.56004 0.720158 4.99524 72.6812 7.36754 0.735995 4.58452 -0.013407 rs199551168 yes no Frequency 1 0.000000 0 0.000398 0.002209 0.000591 0.000101 0.001114 0.000035 0.000139 0.000162 0.000162 0.002209 103 42 19 1 18 1 17 4 1 258972 19014 32148 9892 16160 28964 121958 24656 6180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 42 19 1 18 1 17 4 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.882 0.367 210 PASS . . . . . . . . . . . . . . . . 0.185567 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . 0.4975 . . . . . . . . 4.128e-03 . . . 0.0109 0.0030 0.0021 0.0078 0.0005 0.0017 0.0015 0.0017 0.0094 0.0023 0.0020 0.0056 0.0013 0.0012 0.0015 0.0017 . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.29 182 ENSG00000171931 FBXW10 FBXW10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199551168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0002 0.0006 0.0001 0.0007 4.683e-05 6.483e-05 0.0002 3.453e-05 0.0045 0.0019 0.0013 0 0.0053 0.0009 0.0007 0 . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . rs71231312 rs71231312 rs199551168 1 1538 10 1/0 0,234,255 +rs1026261 17 18682163 T C - FBXW10 1211 F-box and WD repeat domain containing 10 NM_001267585.1 1 3442 3159 NP_001254514.1 Q5XX13 substitution missense exon GRCh37 18682163 18682163 Chr17(GRCh37):g.18682163T>C 2711 2711 NM_001267585.1:c.2711T>C p.Val904Ala p.Val904Ala 14 611679 376 3' 77.0028 3.74384 0.009771 0 77.0028 3.74384 0.009771 0 0 rs1026261 yes no Frequency 1 T 0.000000 0 0.001303 0.014010 0.000352 0.000000 0.000547 0.000000 0.000185 0.000315 0.000477 0.014010 352 296 12 0 10 0 23 8 3 270132 21128 34066 10110 18280 30694 124188 25382 6284 0.000030 0.000284 0.000059 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 3 1 0 0 0 0 0 0 344 290 10 0 10 0 23 8 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8600 4405 13005 0 1 1 0 0.000226963 7.68876e-05 0 0.000226963 7.68876e-05 102 COSM5428318|COSM5428318|COSM5428318|COSM5428318 Stomach|Liver|Large intestine|Haematopoietic and lymphoid tissue 0.001161|0.000422|0.000448|0.000567 861|2371|2231|3530 transition T C T>C 0.000 1.093 V Val GTC 0.240 A Ala GCC 0.403 904 11 5 Platypus 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 353.86 0.00 Deleterious 0 III.54 208 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.487 . @ . . . . . 1 0.423 . . 252.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.1184 -0.211 -0.118 c . . . . . 1.500e-04 . . . 0.0010 0.0001 0 0 0 2.409e-05 0 0 0.0007 5.7e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.770 . . exonic exonic exonic . . 0.405 @ . . . 0.42 0.33 182 ENSG00000171931 FBXW10 FBXW10 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.131 . . . . D 0.653 0.053 . . 37 . 0.736 . . 0.663 . . . 0.688 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.444 . . 0 0 0 0 0 0 . 0.443 . . 0.437 . . . . . . 1 0.446 . . . . . 0.157 . 0.172 . HET 0.08 rs199779085 0.011 0.007 . . . . . . . . . . V.77 2.68E-4 . III.62 III.62 . 0.060000 . . . . 0.000077 . 0.221 . . III.62 0.0060 0.0004 0.0003 0 5.858e-05 0 8.996e-06 0.0006 0 0.0338 0.0098 0.0027 0 0.0075 0.0026 0.0017 0 . . 0.185 . 1.477 1.477000 . . 0.060000 . . 9.999999999999999E-209 0.570 0.273 . 0.354 0.096 . 0.568 . 0.292 1.477 0.991 0.011 rs1026261 rs1026261 rs1026261 rs1026261 1 1538 10 1/0 0,193,255 +. 17 20354747 C CCG - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 insertion intron GRCh37 20354747 20354748 Chr17(GRCh37):g.20354747_20354748insCG 921+46 921+47 NM_001042685.1:c.921+46_921+47insCG p.? p.? 10 10 46 5' 81.9389 X.11 0.995331 9.10207 81.9389 X.11 0.995331 9.75416 0 CG 255 Pass . . . . . . . . . . . . . . . . 1.0 . . . 125 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 125 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 255 1.I 0,0,255 +rs143754684 17 20355233 C T - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20355233 20355233 Chr17(GRCh37):g.20355233C>T 670-37 670-37 NM_001042685.1:c.670-37G>A p.? p.? 9 8 -37 3' 80.5733 9.59713 0.439069 8.85995 80.5733 9.59713 0.439069 8.75926 0 rs143754684 yes no Frequency/1000G 2 0.000000 0 0.000298 0.000976 0.000366 0.000000 0.000821 0.000595 0.000021 0.000000 0.000394 0.000976 68 21 11 0 15 17 2 0 2 227976 21524 30034 7850 18276 28570 96112 20532 5078 0.000079 0.000093 0.000133 0.000000 0.000109 0.000280 0.000000 0.000000 0.000394 9 1 2 0 1 4 0 0 1 50 19 7 0 13 9 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 111 PASS 0.02 0.07 0.08 0.04 0.1 . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . 0.2081 . . . . . . . . 1.205e-04 . . . 0.0001 0.0001 0 0.0002 0 3.8e-05 0.0044 0.0001 0.0002 7.363e-05 0 0.0003 0 2.624e-05 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.36 0.23 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs143754684 0.130 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0003 0.0003 0 0.0007 0 2.365e-05 0.0005 0.0006 0.0012 0.0005 0.0014 0 0.0019 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.13 rs1809522 rs1809522 rs1809522 rs143754684 1 1538 255 1.I 0,0,255 +rs559276260 17 20355271 T G - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20355271 20355271 Chr17(GRCh37):g.20355271T>G 670-75 670-75 NM_001042685.1:c.670-75A>C p.? p.? 9 8 -75 3' 80.5733 9.59713 0.439069 8.85995 80.5733 9.59713 0.439069 8.85658 0 rs559276260 yes no Frequency/1000G 2 0.000000 0 0.042732 0.006800 0.031700 0.012900 0.113300 0.067700 0.003215 0.005034 0.005698 0.000000 0.008598 0.000000 0.001623 0.001070 0.002653 0.008598 81 41 4 0 13 0 18 3 2 25198 8144 702 194 1512 0 11088 2804 754 0.049383 0.048780 0.000000 0.000000 0.000000 0.000000 0.111111 0.000000 0.000000 4 2 0 0 0 0 2 0 0 73 37 4 0 13 0 14 3 2 0 0 0 0 0 0 0 0 0 RF 35 Genomes transversion A C A>C 0.000 -1.328 111 PASS . . . . . 0.0068 0.043 0.068 0.013 0.11 0.032 . . . . . 1.0 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . -0.1662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0427 . . . 0.5 0.2 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs559276260 0.098 0.167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0050 0.0032 0.0057 0 0.0086 0.0011 0.0016 0.0027 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.098 rs9709036 rs9709036 rs9709036 rs9709036 1 1538 255 1.I 0,0,255 +rs770415411 17 20356415 C T - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20356415 20356415 Chr17(GRCh37):g.20356415C>T 577-35 577-35 NM_001042685.1:c.577-35G>A p.? p.? 7 6 -35 3' 94.8022 X.53 0.978474 X.35 94.8022 X.53 0.978474 X.88 0 rs770415411 yes no Frequency 1 C 0.000000 0 0.000046 0.000086 0.000152 0.000314 0.000000 0.000000 0.000022 0.000000 0.000000 0.000314 10 2 4 2 0 0 2 0 0 216250 23214 26378 6362 18016 25928 91442 20120 4790 0.000009 0.000000 0.000076 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 8 2 2 2 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.031 1.739 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . 0.1929 . . . . . . . . 1.226e-04 . . . 0 2.725e-05 0.0001 0 0 3.177e-05 0 0 0 2.344e-05 0.0001 0 0 2.448e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.38 0.39 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs770415411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.V 0.0001 4.151e-05 0.0001 0.0003 0 0 1.224e-05 0 0 0 8.502e-05 0.0016 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1872344 rs1872344 rs1872344 rs1872344 1 1538 10 1/0 0,255,255 +. 17 20356998 G A - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20356998 20356998 Chr17(GRCh37):g.20356998G>A 541-78 541-78 NM_001042685.1:c.541-78C>T p.? p.? 6 5 -78 3' 77.9908 6.47665 0.802973 5.21829 77.9908 6.47665 0.802973 5.07504 0 0.000483 0.000000 0.000000 0.000000 0.000000 0.000000 0.001195 0.000000 0.000000 0.001195 2 0 0 0 0 0 2 0 0 4144 1380 90 30 556 0 1674 280 134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition C T C>T 0.004 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.7019231 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . -0.2164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.36 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0 0 0 0.0012 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62076328 rs62076328 rs62076328 rs62076328 1 1538 10 1/0 0,255,255 +. 17 20357029 G A - LGALS9B 24842 Lectin, galactoside-binding, soluble, 9B NM_001042685.1 -1 1243 1068 NP_001036150.1 substitution intron GRCh37 20357029 20357029 Chr17(GRCh37):g.20357029G>A 541-109 541-109 NM_001042685.1:c.541-109C>T p.? p.? 6 5 -109 3' 77.9908 6.47665 0.802973 5.21829 77.9908 6.47665 0.802973 5.21829 0 0.000140 0.000000 0.000000 0.000000 0.000000 0.000000 0.000340 0.000000 0.000000 0.000340 1 0 0 0 0 0 1 0 0 7138 1994 178 42 894 0 2938 858 234 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition C T C>T 0.035 0.932 255 PASS . . . . . . . . . . . . . . . . 0.6857143 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||LGALS9B|mRNA|CODING|NM_001042685|) . . . . . . . -0.0415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.39 182 ENSG00000170298 LGALS9B LGALS9B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62076327 rs62076327 rs62076327 rs62076327 1 1538 10 1/0 0,255,255 +rs611248 17 20407244 T C - KRT16P3 37808 Keratin 16 pseudogene 3 NR_029393.1 -1 1956 0 substitution exon GRCh37 20407244 20407244 Chr17(GRCh37):g.20407244T>C 568 568 NR_029393.1:n.568A>G 1 -41 5' 85.2503 8.22968 0.945036 6.41632 85.2503 8.22968 0.945036 6.87064 0 Cryptic Acceptor Weakly Activated 20407227 1.79379 0.103477 73.5139 1.86753 0.106846 73.5139 rs611248 no no 0 T 0.000000 0 0.000764 0.001573 0.000000 0.000000 0.000000 0.000000 0.000660 0.000000 0.000000 0.001573 22 13 0 0 0 0 9 0 0 28778 8262 804 278 1542 0 13634 3344 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 13 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 RF 51 Genomes transition A G A>G 1.000 3.353 181 PASS . . . . . . . . . . . . . . . . 0.116883114 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T190A|KRT16P3|Non-coding_transcript|NON_CODING|NR_029393|NR_029393.ex.1) . . . . . . . 0.9189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.34 182 ENSG00000214822 KRT16P3 KRT16P3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs611248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.33 . . . . . . . . . 0.0016 0.0008 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs611248 rs611248 rs611248 rs611248 1 1538 10 1/0 0,239,255 +. (chr17:20415845 TG/T) 17 20415845 TG T Not on a known gene +rs68151103 17 21202123 A G - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202123 21202123 Chr17(GRCh37):g.21202123A>G 117-67 117-67 NM_145109.2:c.117-67A>G p.? p.? 3 2 602315 -67 3' 89.9203 9.94767 0.990096 XII.96 89.9203 9.94767 0.990096 XII.34 0 21202123 -61.9118 rs68151103 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000800 0.000000 0.001000 0.001000 0.000000 transition A G A>G 0.000 -0.037 220 PASS . . . . . 0.0008 0.0006 . 0.001 0.001 . . . . . . 0.21259843 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . 0.0439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.27 0.05 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs68151103 0.174 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.17 . rs68151103 rs68151103 rs68151103 1 1538 10 1/0 0,225,255 +rs77343934 17 21202310 G A - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202310 21202310 Chr17(GRCh37):g.21202310G>A 165+72 165+72 NM_145109.2:c.165+72G>A p.? p.? 3 3 602315 72 5' 68.5159 4.83534 0.527396 6.92808 68.5159 4.83534 0.527396 6.65676 0 rs77343934 yes no Frequency 1 G 0.000000 0 transition G A G>A 0.031 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.3668639 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . 0.1348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.25 0.06 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77343934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77343934 rs77343934 1 1538 10 1/0 0,230,255 +rs75476957 17 21202311 C T - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202311 21202311 Chr17(GRCh37):g.21202311C>T 165+73 165+73 NM_145109.2:c.165+73C>T p.? p.? 3 3 602315 73 5' 68.5159 4.83534 0.527396 6.92808 68.5159 4.83534 0.527396 6.64401 0 rs75476957 no no 0 C 0.000000 0 transition C T C>T 0.047 0.367 255 PASS . . . . . . . . . . . . . . . . 0.3493976 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . 0.2393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.17 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75476957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75476957 rs75476957 1 1538 10 1/0 0,229,255 +rs78463537 17 21202316 T C - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202316 21202316 Chr17(GRCh37):g.21202316T>C 165+78 165+78 NM_145109.2:c.165+78T>C p.? p.? 3 3 602315 78 5' 68.5159 4.83534 0.527396 6.92808 68.5159 4.83534 0.527396 7.18011 0 rs78463537 no no 0 C 0.000000 0 transition T C T>C 0.000 -4.799 255 PASS . . . . . . . . . . . . . . . . 0.5350877 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . . . . . . . . . -1.3120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.33 0.06 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78463537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78463537 rs78463537 1 1538 10 1/0 0,255,255 +rs77591777 17 21202318 G T - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21202318 21202318 Chr17(GRCh37):g.21202318G>T 165+80 165+80 NM_145109.2:c.165+80G>T p.? p.? 3 3 602315 80 5' 68.5159 4.83534 0.527396 6.92808 68.5159 4.83534 0.527396 6.82681 0 rs77591777 yes no Frequency 1 G 0.000000 0 transversion G T G>T 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.3469388 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . . . . . . . -0.1462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.11 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77591777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77591777 rs77591777 1 1538 10 1/0 0,235,255 +rs35769673 17 21204316 G A - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21204316 21204316 Chr17(GRCh37):g.21204316G>A 399+11 399+11 NM_145109.2:c.399+11G>A p.? p.? 5 5 602315 11 5' 81.7977 8.41759 0.983817 8.43177 81.7977 8.41759 0.983817 8.05448 0 rs35769673 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.198 195 PASS . . . . . . . . . . . . . . . . 0.14624506 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 253.0 . . . . . . . . . . -0.1880 . . . . . . . . . . . . 0 6.967e-05 0 0 0 0 0 0.0004 0 6.406e-05 0 0 0 0 0 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.6 0.18 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs35769673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . rs35769673 rs35769673 rs35769673 rs35769673 1 1538 10 1/0 0,190,255 +rs67280439 17 21206360 A G - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21206360 21206360 Chr17(GRCh37):g.21206360A>G 517-135 517-135 NM_145109.2:c.517-135A>G p.? p.? 7 6 602315 -135 3' 69.1115 8.35604 0.434273 9.63059 69.1115 8.35604 0.434273 9.63059 0 New Donor Site 21206359 4.74439 0.172392 78.2933 rs67280439 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 transition A G A>G 0.000 -0.440 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.45333335 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 150.0 . . . . . . . . . . 0.0540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.46 0.15 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs67280439 0.413 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.41 . rs67280439 rs67280439 rs67280439 1 1538 10 1/0 0,236,253 +rs72838545 17 21206372 G C - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21206372 21206372 Chr17(GRCh37):g.21206372G>C 517-123 517-123 NM_145109.2:c.517-123G>C p.? p.? 7 6 602315 -123 3' 69.1115 8.35604 0.434273 9.63059 69.1115 8.35604 0.434273 9.63059 0 rs72838545 yes no Frequency/1000G 2 C 0.000000 0 transversion G C G>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.45348838 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 172.0 . . . . . . . . . . -0.1226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.53 0.15 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72838545 0.413 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.41 . rs72838545 rs72838545 rs72838545 1 1538 10 1/0 0,231,251 +rs72838547 17 21206385 C T - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21206385 21206385 Chr17(GRCh37):g.21206385C>T 517-110 517-110 NM_145109.2:c.517-110C>T p.? p.? 7 6 602315 -110 3' 69.1115 8.35604 0.434273 9.63059 69.1115 8.35604 0.434273 9.63059 0 rs72838547 yes no Frequency/1000G 2 C 0.000000 0 0.008586 0.029500 0.001000 0.000000 0.003000 0.000000 transition C T C>T 0.000 -0.279 255 PASS . . . . . 0.029 0.0086 . . 0.003 0.001 . . . . . 0.43548387 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 186.0 . . . . . . . . . . 0.2021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0086 . . . 0.55 0.16 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72838547 0.402 0.384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.4 . rs72838547 rs72838547 rs72838547 1 1538 10 1/0 0,228,253 +rs1657685 17 21217397 A G - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21217397 21217397 Chr17(GRCh37):g.21217397A>G 961-62 961-62 NM_145109.2:c.961-62A>G p.? p.? 12 11 602315 -62 3' 85.6288 X.93 0.437099 14.1022 85.6288 X.93 0.437099 14.3578 0 rs1657685 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.000000 0.013300 0.000000 0.000000 0.000000 transition A G A>G 0.000 -2.216 255 PASS . . . . . . 0.0026 . . . 0.013 . . . . . 0.49122807 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 171.0 . . . . . . . . . . 0.1216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.35 0.22 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1657685 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1657685 rs1657685 rs1657685 rs1657685 1 1538 10 1/0 0,235,253 +rs1622401 17 21217400 G A - MAP2K3 6843 Mitogen-activated protein kinase kinase 3 NM_145109.2 1 2319 1044 NP_659731.1 P46734 substitution intron GRCh37 21217400 21217400 Chr17(GRCh37):g.21217400G>A 961-59 961-59 NM_145109.2:c.961-59G>A p.? p.? 12 11 602315 -59 3' 85.6288 X.93 0.437099 14.1022 85.6288 X.93 0.437099 13.9858 0 rs1622401 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.013300 0.000000 0.000000 0.000000 transition G A G>A 0.000 -0.440 255 PASS . . . . . . 0.0026 . . . 0.013 . . . . . 0.3710692 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . . . . . . . . . 0.3395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.33 0.15 182 ENSG00000034152 MAP2K3 MAP2K3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1622401 0.500 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.5 rs1622401 rs1622401 rs1622401 rs1622401 1 1538 10 1/0 0,233,255 +rs77515828 17 21320012 C T - KCNJ12 6258 Potassium inwardly-rectifying channel, subfamily J, member 12 NM_021012.4 1 5230 1302 NP_066292.2 Q14500 substitution 3'UTR GRCh37 21320012 21320012 Chr17(GRCh37):g.21320012C>T *56 *56 NM_021012.4:c.*56C>T p.? p.? 3 602323 1414 3' 89.8222 10.191 0.816308 XI.47 89.8222 10.191 0.816308 XI.47 0 rs77515828 yes no Frequency/1000G 2 C 0.000000 0 transition C T C>T 0.181 2.788 249 PASS . . . . . . . . . . . . . . . . 0.3018018 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . 1.1637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.52 0.69 182 ENSG00000184185 KCNJ12 . . . NM_021012:c.*56C>T\x3bNM_001194958:c.*56C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . rs77515828 rs77515828 1 1538 10 1/0 0,211,255 +rs77515828 17 21320012 C T - KCNJ18 39080 Potassium inwardly-rectifying channel, subfamily J, member 18 NM_001194958.2 1 2198 1302 NP_001181887.2 Q14500 substitution 3'UTR GRCh37 21320012 21320012 Chr17(GRCh37):g.21320012C>T *56 *56 NM_001194958.2:c.*56C>T p.? p.? 3 613236 1414 3' 89.8222 10.191 0.816308 11.1038 89.8222 10.191 0.816308 11.1038 0 rs77515828 yes no Frequency/1000G 2 C 0.000000 0 transition C T C>T 0.181 2.788 249 PASS . . . . . . . . . . . . . . . . 0.3018018 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . 1.1637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.52 0.69 182 ENSG00000184185 KCNJ12 . . . NM_021012:c.*56C>T\x3bNM_001194958:c.*56C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . 4.I . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . rs77515828 rs77515828 1 1538 10 1/0 0,211,255 +rs9325914 (chr17:21536065 A/G) 17 21536065 A G Not on a known gene +rs9325915 (chr17:21536106 T/C) 17 21536106 T C Not on a known gene +rs9909512 (chr17:21544414 G/T) 17 21544414 G T Not on a known gene +. (chr17:21544420 A/G) 17 21544420 A G Not on a known gene +rs9285742 (chr17:21544462 G/A) 17 21544462 G A Not on a known gene +rs9285743 (chr17:21544470 A/G) 17 21544470 A G Not on a known gene +rs77287876 (chr17:21544493 C/T) 17 21544493 C T Not on a known gene +rs80038701 (chr17:21544512 G/C) 17 21544512 G C Not on a known gene +rs4267373 17 25944235 A G - KSR1 6465 Kinase suppressor of ras 1 NM_014238.1 1 4491 2289 NP_055053.1 substitution intron GRCh37 25944235 25944235 Chr17(GRCh37):g.25944235A>G 2149-86 2149-86 NM_014238.1:c.2149-86A>G p.? p.? 21 20 601132 -86 3' 0 4.45459 0.266876 6.02582 0 4.45459 0.266876 6.02582 0 25944235 -63.2059 rs4267373 yes no Frequency/1000G 2 G 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30925 8705 838 302 1616 0 14990 3494 980 30926 8706 838 302 1616 0 14990 3494 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15462 4352 419 151 808 0 7495 1747 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -1.086 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||KSR1|mRNA|CODING|NM_014238|) . . . . . . . -0.3404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.21 0.13 182 ENSG00000141068 KSR1 KSR1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs4267373 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs4267373 rs4267373 rs4267373 rs4267373 1 1538 255 1.I 0,0,255 +. 17 26699367 G GC - VTN 12724 Vitronectin NM_000638.3 -1 1678 1437 NP_000629.3 P04004 duplication upstream GRCh37 26699367 26699368 Chr17(GRCh37):g.26699368dup -2144 -2144 NM_000638.3:c.-2144dup p.? p.? 1 193190 -2207 5' 71.7377 8.0427 0.913603 6.47863 71.7377 8.0427 0.913603 6.47863 0 rs11437594 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999976 0.999902 1.000000 1.000000 1.000000 1.000000 0.999960 1.000000 1.000000 1.000000 126527 10221 20822 6958 7190 19696 49542 8368 3730 126530 10222 20822 6958 7190 19696 49544 8368 3730 0.999953 0.999804 1.000000 1.000000 1.000000 1.000000 0.999919 1.000000 1.000000 63262 5110 10411 3479 3595 9848 24770 4184 1865 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 19 14 33 4457 2410 6867 0.00424486 0.00577558 0.00478261 0.995755 0.994224 0.995217 3 G 255 Pass 1. 0.99 1. 0.97 1. 1. 1. 1. 1. 1. 1. ENSG00000004139:ENST00000457710:exon1:c.215dupC:p.A72fs SARM1:uc010crl.1:exon2:c.312_313insC:p.L104fs SARM1:NM_015077:exon2:c.314dupC:p.A105fs . . 0.9722222 . . . 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 72 . . . 1. 1. 1. 0.99 1. 1. . . . . . . . . . . 1.000 . . . 1 1 1 1 . 1 1 1 1 1 1 1 1 1 1 1 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000004139 SARM1 SARM1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.043 0.036 . . . . ID\x3dCOSM976864\x3bOCCURENCE\x3d1(endometrium) . . . . . . . . . . . . . . . Name\x3dnsv519388 0.998547 . . . . . 1 1.0000 1 1 1 1 0.9999 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs34421136 rs11437594 rs11437594 1 1538 255 1.I 0,0,255 +rs71373646 (chr17:26708302 G/T) 17 26708302 G T Not on a known gene +rs11658194 (chr17:26708550 T/C) 17 26708550 T C Not on a known gene +. 17 27071305 C G - NEK8 13387 NIMA (never in mitosis gene a)- related kinase 8 NM_178170.2 1 2858 2079 NP_835464.1 Q86SG6 substitution downstream GRCh37 27071305 27071305 Chr17(GRCh37):g.27071305C>G *2300 *2300 NM_178170.2:c.*2300C>G p.? p.? 15 609799 2329 3' 77.8949 6.36228 0.527562 4.62453 77.8949 6.36228 0.527562 4.62453 0 0.000452 0.000000 0.000000 0.000302 0.000000 0.000189 0.000467 0.002694 0.000000 0.002694 20 0 0 1 0 2 10 7 0 44256 2026 1910 3314 1566 10598 21394 2598 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 1 0 2 10 7 0 0 0 0 0 0 0 0 0 0 RF 152 Exomes transversion C G C>G 0.000 0.125 237 PASS . . . . . . . . . . . . . . . . 0.27272728 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . I.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000076604 TRAF4 TRAF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0.0003 0 0.0027 0.0005 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 17 27071305 C G - TRAF4 12034 TNF receptor-associated factor 4 NM_004295.3 1 2902 1413 NP_004286.2 Q9BUZ4 substitution intron GRCh37 27071305 27071305 Chr17(GRCh37):g.27071305C>G 143+32 143+32 NM_004295.3:c.143+32C>G p.? p.? 1 1 602464 32 5' 67.4408 4.87078 0.356354 8.57192 67.4408 4.87078 0.356354 9.00933 0 0.000452 0.000000 0.000000 0.000302 0.000000 0.000189 0.000467 0.002694 0.000000 0.002694 20 0 0 1 0 2 10 7 0 44256 2026 1910 3314 1566 10598 21394 2598 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 1 0 2 10 7 0 0 0 0 0 0 0 0 0 0 RF 152 Exomes transversion C G C>G 0.000 0.125 237 PASS . . . . . . . . . . . . . . . . 0.27272728 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . . . . . . . . . I.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000076604 TRAF4 TRAF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0 0.0003 0 0.0027 0.0005 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 17 27071310 C G - NEK8 13387 NIMA (never in mitosis gene a)- related kinase 8 NM_178170.2 1 2858 2079 NP_835464.1 Q86SG6 substitution downstream GRCh37 27071310 27071310 Chr17(GRCh37):g.27071310C>G *2305 *2305 NM_178170.2:c.*2305C>G p.? p.? 15 609799 2334 3' 77.8949 6.36228 0.527562 4.62453 77.8949 6.36228 0.527562 4.62453 0 0.001238 0.000000 0.001058 0.000893 0.001253 0.001861 0.001025 0.001913 0.001163 0.001913 55 0 2 3 2 20 22 5 1 44428 1908 1890 3358 1596 10748 21454 2614 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 0 2 3 2 20 22 5 1 0 0 0 0 0 0 0 0 0 RF 144 Exomes transversion C G C>G 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.9345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000076604 TRAF4 TRAF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0012 0.0011 0.0009 0.0013 0.0019 0.0010 0.0012 0.0019 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +. 17 27071310 C G - TRAF4 12034 TNF receptor-associated factor 4 NM_004295.3 1 2902 1413 NP_004286.2 Q9BUZ4 substitution intron GRCh37 27071310 27071310 Chr17(GRCh37):g.27071310C>G 143+37 143+37 NM_004295.3:c.143+37C>G p.? p.? 1 1 602464 37 5' 67.4408 4.87078 0.356354 8.57192 67.4408 4.87078 0.356354 9.36682 0 0.001238 0.000000 0.001058 0.000893 0.001253 0.001861 0.001025 0.001913 0.001163 0.001913 55 0 2 3 2 20 22 5 1 44428 1908 1890 3358 1596 10748 21454 2614 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 0 2 3 2 20 22 5 1 0 0 0 0 0 0 0 0 0 RF 144 Exomes transversion C G C>G 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . 0.9345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000076604 TRAF4 TRAF4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0012 0.0011 0.0009 0.0013 0.0019 0.0010 0.0012 0.0019 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,0,0 +rs200444762 17 27085971 C T - FAM222B 25563 Family with sequence similarity 222, member B NM_001288631.1 -1 4350 1695 NP_001275560.1 substitution missense exon GRCh37 27085971 27085971 Chr17(GRCh37):g.27085971C>T 1012 1012 NM_001288631.1:c.1012G>A p.Ala338Thr p.Ala338Thr 4 924 3' 88.1236 13.0367 0.995224 13.7339 88.1236 13.0367 0.995224 13.7339 0 rs200444762 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000637 0.000044 0.000000 0.000000 0.000000 0.000000 0.000714 0.003266 0.000319 0.003266 170 1 0 0 0 0 87 80 2 266792 22674 33424 9864 18428 29786 121852 24492 6272 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 170 1 0 0 0 0 87 80 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8382 4086 12468 2 0 2 0.00023855 0 0.000160385 0.00023855 0 0.000160385 33 transition G A G>A 0.992 1.013 A Ala GCG 0.107 T Thr ACG 0.116 338 12 10 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 86.21 VIII.93 Tolerated 0.25 III.66 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.5068493 . . @ 148 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.103 . @ . . . . . 1 0.342 . . 292.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.8566 -0.854 -0.857 c . . . . . 7.595e-04 . . . 0.0001 0.0003 0 0 0.0031 0.0003 0 0 0.0002 0.0011 0 0 0.0046 0.0015 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.180 0.0002 . . . 0.43 0.59 182 ENSG00000173065 FAM222B FAM222B . . . 0.966 0.288 . 27 0.000415538 64976 26 0.000433434 59986 Uncertain_significance . 0 . 0.309 . . . . T 0.103 0.004 . . 37 . 0.231 . . 0.089 . . . 0.562 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.245 . . 0 0 0 0 0 0 . 0.119 . . 0.063 . . . . . . 0 0.123 . . . . . 0.322 . 0.238 . HET 0.69 rs200444762 . . . . . . . . . . . . VIII.04 . . 3.IX 0.847 . 0.460000 Q8WU58 . . . 0.000160 . 0.366 . . . 7.166e-05 0.0006 0 0 0 0.0035 0.0007 0.0004 0 0 0.0005 0 0 0 0.0020 0.0007 0 . . 0.522 . 0.238 0.238000 . . 0.460000 . . 1.0E-255 0.997 0.399 . 0.512 0.477 . 0.321 . 0.362 0.238 0.871 0.0002 . . rs200444762 rs200444762 1 1538 10 1/0 0,212,226 +rs372035273 17 27903489 C T - GIT1 4272 G protein-coupled receptor kinase interacting ArfGAP 1 NM_001085454.1 -1 3760 2313 NP_001078923.1 substitution intron GRCh37 27903489 27903489 Chr17(GRCh37):g.27903489C>T 1408-21 1408-21 NM_001085454.1:c.1408-21G>A p.? p.? 15 14 608434 -21 3' 76.3285 6.55123 0.487489 5.00693 76.3285 6.55123 0.446169 4.57733 -0.0282536 rs372035273 yes no Frequency 1 C 0.000000 0 0.000210 0.000000 0.000087 0.000000 0.000000 0.000000 0.000412 0.000000 0.000465 0.000412 58 0 3 0 0 0 52 0 3 276354 23964 34404 10082 18866 30770 126090 25722 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 0 3 0 0 0 52 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 50 transition G A G>A 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.3957219 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . 0.5672 . . . . . . . . 1.737e-04 . . . 0 0.0002 8.663e-05 0 0 0.0004 0 0 0 0.0002 8.921e-05 0 0 0.0003 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.65 0.12 182 ENSG00000264031 GIT1 GIT1 . . . . . . 14 0.000215464 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs372035273 . . . . . . . . . . . . . . . . . . . . . . . 0.000615 . . . . II.21 0 0.0002 8.938e-05 0 0 0 0.0004 0.0004 0 0 0.0002 0 0 0 0 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs372035273 rs372035273 1 1538 10 1/0 0,226,255 +rs148682566 17 29325919 G A - RNF135 21158 Ring finger protein 135 NM_032322.3 1 2153 1299 NP_115698.3 Q8IUD6 substitution missense exon GRCh37 29325919 29325919 Chr17(GRCh37):g.29325919G>A 1009 1009 NM_032322.3:c.1009G>A p.Asp337Asn p.Asp337Asn 5 611358 240 3' 88.0151 9.15944 0.99429 10.975 88.0151 9.15944 0.99429 10.975 0 SPla/RYanodine receptor SPRY Butyrophylin-like B30.2/SPRY domain SPla/RYanodine receptor subgroup rs148682566 yes no Frequency 1 G 0.000000 0 0.000192 0.000000 0.000000 0.000000 0.000000 0.000065 0.000381 0.000000 0.000466 0.000381 53 0 0 0 0 2 48 0 3 275658 24012 34282 9950 18858 30670 125830 25622 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 0 0 0 0 2 48 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4406 12997 9 0 9 0.00104651 0 0.000691988 0.00104651 0 0.000691988 49 transition G A G>A 0.000 -0.279 D Asp GAC 0.539 N Asn AAC 0.536 337 10 6 Cow 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 226.57 0.00 Tolerated 0.5 III.55 good 8.037E-1 0.0008818 255 PASS . . . . . . . . . . . ENSG00000181481:ENST00000328381:exon5:c.G1009A:p.D337N RNF135:uc002hfz.3:exon5:c.G1009A:p.D337N RNF135:NM_032322:exon5:c.G1009A:p.D337N . . 0.37333333 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.240 . @ . . . . . 1 0.179 . . 150.0 . . . . 0.0007 0.001 . 0.0007 0.001 . -0.8381 -0.874 -0.838 c . . . . . 1.658e-04 . . . 0 0.0002 0 0 0 0.0004 0 0 0 0.0002 0 0 0 0.0004 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.683 . . exonic exonic exonic . . 0.048 @ . . . 0.61 0.47 182 ENSG00000181481 RNF135 RNF135 . . . 0.000 0.065 . 18 0.000277025 64976 18 0.00030007 59986 Uncertain_significance . 0 . 0.105 . . . . T 0.387 0.017 . . 37 . 0.499 . . 0.420 . . . 0.240 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.256 . . 0.239 . . . . . . 0 0.107 . . . . . 0.493 . 0.002 . HET 0.57 rs148682566 . . . . . . . . . . . . XI.95 0.0 . V.21 -3.19 . 0.110000 Q8IUD6 . . . 0.000692 . 0.044 . . . 0 0.0002 0 0 0 0 0.0004 0.0006 6.521e-05 0 0.0001 0 0 0 0 0.0003 0 . . 0.730 . -0.323 -0.323000 . . 0.110000 . . 1.0E-255 0.000 0.063 . 0.266 0.083 . 0.177 . 0.164 -0.323 -0.199 0.001 . . rs148682566 rs148682566 1 1538 10 1/0 0,232,255 +rs556662564 (chr17:30433782 G/A) 17 30433782 G A Not on a known gene +rs3841494 17 31266438 A G - TMEM98 24529 Transmembrane protein 98 NM_001033504.1 1 1719 681 NP_001028676.1 Q9Y2Y6 substitution intron GRCh37 31266438 31266438 Chr17(GRCh37):g.31266438A>G 414-57 414-57 NM_001033504.1:c.414-57A>G p.? p.? 6 5 615949 -57 3' 81.2814 7.59834 0.426221 VI.81 81.2814 7.59834 0.426221 6.48902 0 rs3841494 no no 0 A 0.000000 0 0.000074 0.000124 0.000000 0.000000 0.000000 0.000000 0.000077 0.000000 0.000000 0.000124 2 1 0 0 0 0 1 0 0 26954 8050 712 282 1596 0 12928 2602 784 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition A G A>G 0.000 -0.279 193 PASS . . . . . . . . . . . . . . . . 0.14150943 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . -0.1806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.16 182 ENSG00000006042 TMEM98 TMEM98 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs3841494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.42e-05 0 0 0 0 7.735e-05 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs28367276 rs28367276 rs28367276 rs28367276 1 1538 10 1/0 0,227,255 +rs75467031 17 33329814 G A - LIG3 6600 Ligase III, DNA, ATP-dependent NM_013975.3 1 3722 3030 NP_039269.2 P49916 substitution intron GRCh37 33329814 33329814 Chr17(GRCh37):g.33329814G>A 2796+6 2796+6 NM_013975.3:c.2796+6G>A p.? p.? 19 19 600940 6 5' 90.3122 9.15773 0.983833 7.30626 90.0021 8.68007 0.971975 7.52388 -0.0225488 rs75467031 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.001000 0.000000 0.002000 0.004300 0.001839 0.000377 0.000640 0.003485 0.000000 0.001614 0.002890 0.000895 0.001841 0.003485 477 9 21 28 0 43 343 22 11 259376 23866 32792 8034 18790 26650 118684 24584 5976 0.000008 0.000000 0.000000 0.000000 0.000000 0.000075 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 475 9 21 28 0 41 343 22 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4404 12979 25 2 27 0.00290698 0.000453926 0.00207596 0.00290698 0.000453926 0.00207596 59 transition G A G>A 0.000 -1.005 255 PASS . 0.0014 . . 0.004 . 0.0012 0.0043 . 0.002 0.001 . . . . . 0.50769234 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . 0.0005 0.0021 0.0029 0.0005 0.0021 0.0029 . 0.2809 . . . . . . . . 2.290e-03 . . . 0.0007 0.0015 0.0007 0 0 0.0023 0.0016 0.0018 0.0007 0.0025 0.0006 0 0.0002 0.0040 0.0032 0.0017 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.38 0.1 182 ENSG00000005156 LIG3 LIG3 . . . . . . 130 0.00200074 64976 124 0.00206715 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75467031 . . . . . . . . . . . . . . . . . . . . 0.0005 0.06 Name\x3dnsv2035 0.002076 . . . . . 0.0005 0.0019 0.0006 0.0036 0 0.0009 0.0030 0.0014 0.0016 0.0001 0.0015 0.0012 0 0 0.0009 0.0024 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs75467031 rs75467031 1 1538 10 1/0 0,255,255 +rs62062408 17 33478187 A G - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478187 33478187 Chr17(GRCh37):g.33478187A>G 381+945 381+945 NM_173167.3:c.381+945A>G p.? p.? 3 3 611220 945 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs62062408 yes no Frequency 1 0.000000 0 0.000059 0.000000 0.000000 0.000000 0.000000 0.000298 0.000045 0.000166 0.000000 0.000298 3 0 0 0 0 1 1 1 0 51078 9384 3160 2942 2332 3358 22298 6040 1564 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.406 0.044 255 PASS . . . . . . . . . . . . . . . . 0.99335545 . . @ 299 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . 0.1736 . . . . . . . . 1.238e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.18 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62062408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0004 0.0001 0 0.0003 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62062408 rs62062408 rs62062408 rs62062408 1 1538 255 1.I 0,0,255 +rs12165042 17 33478216 T C - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478216 33478216 Chr17(GRCh37):g.33478216T>C 381+974 381+974 NM_173167.3:c.381+974T>C p.? p.? 3 3 611220 974 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs12165042 no no 0 0.000000 0 transition T C T>C 0.406 0.044 255 PASS . . . . . . . . . . . . . . . . 0.776435 . . @ 257 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 331.0 . . . . . . . . . . 0.1463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.22 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs12165042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs12165042 rs12165042 rs12165042 rs12165042 1 1538 10 1/0 0,212,208 +rs28625679 17 33478229 A T - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478229 33478229 Chr17(GRCh37):g.33478229A>T 381+987 381+987 NM_173167.3:c.381+987A>T p.? p.? 3 3 611220 987 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 Cryptic Acceptor Strongly Activated 33478247 2.90372 0.001394 73.0362 3.22535 0.002032 73.0362 rs28625679 yes no Frequency 1 0.000000 0 0.001285 0.002778 0.001512 0.000358 0.004688 0.001888 0.001212 0.000348 0.001359 0.004688 27 2 4 1 3 6 9 1 1 21014 720 2646 2794 640 3178 7426 2874 736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 2 4 1 3 6 9 1 1 0 0 0 0 0 0 0 0 0 RF 81 Exomes transversion A T A>T 0.390 0.044 255 PASS . . . . . . . . . . . . . . . . 0.9932886 . . @ 296 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 298.0 . . . . . . . . . . 0.1290 . . . . . . . . 5.068e-04 . . . 0.0026 0.0028 0.0089 0 0 0.0013 0 0.0046 0 0.0031 0.0106 0 0 0.0022 0 0.0046 . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.19 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs28625679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0013 0.0015 0.0004 0.0047 0.0003 0.0012 0.0014 0.0019 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28625679 rs28625679 rs28625679 rs28625679 1 1538 255 1.I 0,0,255 +rs62062409 17 33478303 A C - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478303 33478303 Chr17(GRCh37):g.33478303A>C 381+1061 381+1061 NM_173167.3:c.381+1061A>C p.? p.? 3 3 611220 1061 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs62062409 no no 0 0.000000 0 transversion A C A>C 0.083 -2.297 255 PASS . . . . . . . . . . . . . . . . 0.9897959 . . @ 194 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 196.0 . . . . . . . . . . -0.5703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.21 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62062409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62062409 rs62062409 rs62062409 rs62062409 1 1538 255 1.I 0,0,255 +rs62062410 17 33478323 T C - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478323 33478323 Chr17(GRCh37):g.33478323T>C 381+1081 381+1081 NM_173167.3:c.381+1081T>C p.? p.? 3 3 611220 1081 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs62062410 no no 0 0.000000 0 transition T C T>C 0.028 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.994012 . . @ 166 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . -0.5380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.24 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62062410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62062410 rs62062410 rs62062410 rs62062410 1 1538 255 1.I 0,0,255 +rs62062411 17 33478344 T G - UNC45B 14304 Unc-45 myosin chaperone B NM_173167.3 1 5582 2796 NP_775259.1 Q8IWX7 substitution intron GRCh37 33478344 33478344 Chr17(GRCh37):g.33478344T>G 381+1102 381+1102 NM_173167.3:c.381+1102T>G p.? p.? 3 3 611220 1102 5' 89.5524 9.59704 0.920321 XII.04 89.5524 9.59704 0.920321 XII.04 0 rs62062411 no no 0 0.000000 0 transversion T G T>G 0.134 0.044 255 PASS . . . . . . . . . . . . . . . . 0.986014 . . @ 141 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 143.0 . . . . . . . . . . -0.1052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.19 182 ENSG00000141161 UNC45B UNC45B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62062411 . . . . . . ID\x3dCOSN138707\x3bOCCURENCE\x3d1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62062411 rs62062411 rs62062411 rs62062411 1 1538 255 1.I 0,0,255 +rs306818 (chr17:34494927 G/T) 17 34494927 G T Not on a known gene +. (chr17:34497919 A/G) 17 34497919 A G Not on a known gene +. (chr17:34581670 C/G) 17 34581670 C G Not on a known gene +rs764528080 (chr17:34581889 C/T) 17 34581889 C T Not on a known gene +. (chr17:34582971 G/T) 17 34582971 G T Not on a known gene +. (chr17:34584171 C/G) 17 34584171 C G Not on a known gene +. 17 34746704 C G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution synonymous exon GRCh37 34746704 34746704 Chr17(GRCh37):g.34746704C>G 1380 1380 NM_001291462.1:c.1380G>C p.Thr460= p.Thr460Thr 14 610810 299 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.38 0 transversion G C G>C 0.024 0.125 T Thr ACG 0.116 T Thr ACC 0.361 460 198 PASS . . . . . . . . . . . . . . . . 0.15343915 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 189.0 . . . . . . . . . . -0.1934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . . TBC1D3H . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . rs3895688 rs3895688 rs3895688 rs3895688 1 1538 10 1/0 0,204,255 +. 17 34747987 G T - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution missense exon GRCh37 34747987 34747987 Chr17(GRCh37):g.34747987G>T 1060 1060 NM_001291462.1:c.1060C>A p.Gln354Lys p.Gln354Lys 13 610810 -22 5' 79.7784 8.06623 0.849096 2.72092 79.7784 8.06623 0.849096 II.21 0 transversion C A C>A 0.039 0.205 Q Gln CAG 0.744 K Lys AAG 0.575 354 12 3 Baker's yeast 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 146.45 0.00 Tolerated 1 II.54 255 PASS . . . . . . . . . . . . . . . . 0.45652175 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.014 . . 138.0 . . . . . . . . . . -1.2688 -1.413 -1.269 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.094 @ . . . . . . ENSG00000242384 TBC1D3H . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.409 . . . . D 0.918 0.334 . . 37 . 0.060 . . 0.283 . . . . 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.588 . . 0.500 . . . . . . 1 . . . . . . . . 0.016 . HET 1 . . . . . . . . . . . . . . . . 0.53 -1.06 . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -0.587 -0.587000 . . 1.000000 . . 1.0E-255 0.005 0.169 . 0.043 0.088 . 0.178 . 0.271 -0.587 -0.617 . rs306818 rs306818 rs306818 rs306818 1 1538 10 1/0 0,244,255 +. 17 34749438 C G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution intron GRCh37 34749438 34749438 Chr17(GRCh37):g.34749438C>G 762+64 762+64 NM_001291462.1:c.762+64G>C p.? p.? 10 10 610810 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.000 -0.682 182 PASS . . . . . . . . . . . . . . . . 0.116 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 250.0 . . . . . . . . . . -0.3978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,188,255 +. 17 34749494 A G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution intron GRCh37 34749494 34749494 Chr17(GRCh37):g.34749494A>G 762+8 762+8 NM_001291462.1:c.762+8T>C p.? p.? 10 10 610810 8 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.996238 X.87 0.000177428 transition T C T>C 0.268 -0.602 177 PASS . . . . . . . . . . . . . . . . 0.10574018 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 331.0 . . . . . . . . . . -0.4217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . rs4795246 rs4795246 rs4795246 rs4795246 1 1538 10 1/0 0,175,255 +. 17 34750317 G A - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution synonymous exon GRCh37 34750317 34750317 Chr17(GRCh37):g.34750317G>A 660 660 NM_001291462.1:c.660C>T p.Ser220= p.Ser220Ser 9 610810 -8 5' 90.7326 X.06 0.995433 XI.07 90.7326 X.06 0.995433 XI.39 0 transition C T C>T 1.000 0.851 S Ser TCC 0.220 S Ser TCT 0.185 220 188 PASS . . . . . . . . . . . . . . . . 0.13207547 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.2354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242384 TBC1D3H . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . rs4794769 . . 1 1538 10 1/0 0,255,255 +. 17 34750980 A G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution synonymous exon GRCh37 34750980 34750980 Chr17(GRCh37):g.34750980A>G 540 540 NM_001291462.1:c.540T>C p.Tyr180= p.Tyr180Tyr 8 610810 -7 5' 86.7234 X.83 0.995484 VIII.55 86.7234 X.83 0.995337 9.19037 -4.92223e-05 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 4 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.984 1.013 Y Tyr TAT 0.438 Y Tyr TAC 0.562 180 214 PASS . . . . . . . . . . . . . . . . 0.19444445 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 216.0 . . . . . . . . . . -0.0077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242384 TBC1D3H . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs306820 rs306820 rs306820 rs306820 1 1538 10 1/0 0,202,255 +. 17 34753219 C G - TBC1D3G 29860 TBC1 domain family, member 3G NM_001291462.1 -1 2065 1650 NP_001278391.1 Q6DHY5 substitution intron GRCh37 34753219 34753219 Chr17(GRCh37):g.34753219C>G 279+42 279+42 NM_001291462.1:c.279+42G>C p.? p.? 5 5 610810 42 5' 81.9786 X.32 0.864349 7.1292 81.9786 X.32 0.864349 6.85519 0 transversion G C G>C 0.433 0.044 178 PASS . . . . . . . . . . . . . . . . 0.10810811 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . -0.1025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,192,255 +. 17 34799038 G T - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution missense exon GRCh37 34799038 34799038 Chr17(GRCh37):g.34799038G>T 1060 1060 NM_001001417.6:c.1060C>A p.Gln354Lys p.Gln354Lys 13 610144 -22 5' 79.7784 8.06623 0.849096 2.72092 79.7784 8.06623 0.849096 II.21 0 COSM5427097|COSM5427097 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3530 transversion C A C>A 0.677 0.367 Q Gln CAG 0.744 K Lys AAG 0.575 354 12 3 Baker's yeast 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 146.45 0.00 Tolerated 1 II.55 255 PASS . . . . . . . . . . . . . . . . 0.47959185 . . @ 47 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 98.0 . . . . . . . . . . -1.1398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161583 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.119 0.119000 . . 1.000000 . . 1.0E-255 . . . . . . . . . 0.119 . . rs306818 rs306818 rs306818 rs306818 1 1538 10 1/0 0,255,255 +. 17 34799113 C G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution missense exon GRCh37 34799113 34799113 Chr17(GRCh37):g.34799113C>G 985 985 NM_001001417.6:c.985G>C p.Val329Leu p.Val329Leu 13 610144 57 3' 70.103 8.45718 0.917051 7.81349 70.103 8.45718 0.917051 7.46025 0 Cryptic Acceptor Strongly Activated 34799096 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.189 -0.198 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.43 II.83 177 PASS . . . . . . . . . . . . . . . . 0.10752688 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.008 . . 93.0 . . . . . . . . . . -1.9129 -1.984 -1.913 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161583 . . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.043 0.002 . . 37 . 0.109 . . 0.258 . . . 0.404 0.191 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 0 . . . . . . . . 0.208 . LowAF 0.62 . . . . . . . . . . . . . . . . . . . 0.710000 . . . . . . 0.038 . . . . . . . . . . . . . . . . . . . . . . 0.558 . -1.727 -1.727000 . . 0.710000 . . 1.0E-177 0.000 0.063 . 0.016 0.002 . 0.102 . 0.017 -1.727 0.542 . . . . . 1 1538 10 1/0 0,230,255 +. 17 34800489 C G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution intron GRCh37 34800489 34800489 Chr17(GRCh37):g.34800489C>G 762+64 762+64 NM_001001417.6:c.762+64G>C p.? p.? 10 10 610144 64 5' 95.6376 X.36 0.995708 X.11 95.6376 X.36 0.995708 X.83 0 transversion G C G>C 0.039 0.125 214 PASS . . . . . . . . . . . . . . . . 0.1957672 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 189.0 . . . . . . . . . . -0.3848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,207,255 +. 17 34800545 A G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution intron GRCh37 34800545 34800545 Chr17(GRCh37):g.34800545A>G 762+8 762+8 NM_001001417.6:c.762+8T>C p.? p.? 10 10 610144 8 5' 95.6376 X.36 0.995708 X.11 95.6376 X.36 0.996238 X.15 0.000177428 transition T C T>C 0.665 0.125 169 PASS . . . . . . . . . . . . . . . . 0.109540634 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 283.0 . . . . . . . . . . -0.4384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-169 . . . . . . . . . . . . rs4795246 rs4795246 rs4795246 rs4795246 1 1538 10 1/0 0,182,255 +. 17 34801418 C T - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution missense exon GRCh37 34801418 34801418 Chr17(GRCh37):g.34801418C>T 610 610 NM_001001417.6:c.610G>A p.Glu204Lys p.Glu204Lys 9 610144 -58 5' 90.7326 X.06 0.995433 XI.07 90.7326 X.06 0.995433 XI.42 0 transition G A G>A 1.000 3.111 E Glu GAG 0.583 K Lys AAG 0.575 204 12 10 Baker's yeast 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 228.11 36.47 Deleterious 0.03 II.57 177 PASS . . . . . . . . . . . . . . . . 0.10909091 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.561 . @ . . . . . 1 0.718 . . 55.0 . . . . . . . . . . -0.0402 -0.364 -0.040 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161583 . . . . . 0.007 0.113 . . . . . . . Uncertain_significance . 0 . 0.513 . . . . T 0.040 0.002 . . 37 . 0.336 . . 0.171 . . . 0.911 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.539 . . 0.525 . . . . . . 0 . . . . . . 0.181 . 0.491 . LowAF 0 . . . . . . . . . . . . . V.51 . . . . . 0.000000 . . . . . . 0.288 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.000000 . . 1.0E-177 1.000 0.715 . 0.134 0.732 . 0.662 . 0.269 0.119 0.542 . . . . . 1 1538 10 1/0 0,252,255 +rs306820 17 34802031 A G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution synonymous exon GRCh37 34802031 34802031 Chr17(GRCh37):g.34802031A>G 540 540 NM_001001417.6:c.540T>C p.Tyr180= p.Tyr180Tyr 8 610144 -7 5' 86.7234 X.83 0.995484 VIII.55 86.7234 X.83 0.995337 9.19037 -4.92223e-05 rs306820 yes no Frequency 1 0.000000 0 transition T C T>C 0.992 0.851 Y Tyr TAT 0.438 Y Tyr TAC 0.562 180 192 PASS . . . . . . . . . . . . . . . . 0.13962264 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 265.0 . . . . . . . . . . -0.1190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161583 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs306820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . rs306820 rs306820 rs306820 rs306820 1 1538 10 1/0 0,188,255 +. 17 34803312 A G - TBC1D3B 27011 TBC1 domain family, member 3B NM_001001417.6 -1 2110 1650 NP_001001417.6 P0C7X1 substitution intron GRCh37 34803312 34803312 Chr17(GRCh37):g.34803312A>G 497+10 497+10 NM_001001417.6:c.497+10T>C p.? p.? 7 7 610144 10 5' 82.0854 7.47029 0.992416 6.30485 82.0854 7.47029 0.992416 6.25454 0 0.001623 0.001603 0.000704 0.000000 0.000158 0.000300 0.003233 0.015464 0.003650 0.015464 55 13 5 0 1 1 23 9 3 33884 8108 7104 492 6332 3330 7114 582 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 13 5 0 1 1 23 9 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4000109 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.409 -1.812 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.7570 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.26 182 . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0001 0 0 0 0.0003 0.0014 0.0003 0.0033 0.0076 0.0182 0 0.0014 0.0263 0.0166 0.0152 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs3875011 rs3875011 rs3875011 rs3875011 1 1538 255 1.I 0,0,255 +. 17 36285513 A G - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001123391.3:c.-1-31A>G p.? p.? 2 1 607741 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001001418.6:c.-1-31A>G p.? p.? 2 1 610806 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001291465.1:c.-1-31A>G p.? p.? 2 1 610807 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001291466.1:c.-1-31A>G p.? p.? 2 1 610808 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001123392.3:c.-1-31A>G p.? p.? 2 1 610811 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001291463.1:c.-1-31A>G p.? p.? 2 1 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36285513 A G - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution intron GRCh37 36285513 36285513 Chr17(GRCh37):g.36285513A>G -32 -32 NM_001291459.1:c.-1-31A>G p.? p.? 2 1 -31 3' 90.0139 6.47396 0.904627 2.38964 90.0139 6.47396 0.904627 2.02893 0 Cryptic Acceptor Strongly Activated 36285527 1.61476 0.131205 4.98814 0.289989 68.6824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.008 0.125 186 PASS . . . . . . . . . . . . . . . . 0.12698413 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.4270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intronic . . . @ . . . 0.72 0.58 182 ENSG00000185128 TBC1D3 . ENST00000505415:c.-32A>G uc002hoq.2:c.-32A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . rs71214525 rs71214525 rs71214525 1 1538 10 1/0 0,218,255 +. 17 36287246 A G - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001123391.3:c.198+59A>G p.? p.? 4 4 607741 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001001418.6:c.198+59A>G p.? p.? 4 4 610806 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001291465.1:c.198+59A>G p.? p.? 4 4 610807 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001291466.1:c.198+59A>G p.? p.? 4 4 610808 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001123392.3:c.198+59A>G p.? p.? 4 4 610811 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001291463.1:c.198+59A>G p.? p.? 4 4 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287246 A G - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution intron GRCh37 36287246 36287246 Chr17(GRCh37):g.36287246A>G 198+59 198+59 NM_001291459.1:c.198+59A>G p.? p.? 4 4 59 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8523 0 Cryptic Donor Strongly Activated 36287246 2.91318 0.012084 65.4405 8.98848 0.444533 77.5766 transition A G A>G 0.717 -1.570 175 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.5545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-466A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001123391.3:c.198+86A>G p.? p.? 4 4 607741 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001001418.6:c.198+86A>G p.? p.? 4 4 610806 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001291465.1:c.198+86A>G p.? p.? 4 4 610807 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001291466.1:c.198+86A>G p.? p.? 4 4 610808 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001123392.3:c.198+86A>G p.? p.? 4 4 610811 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001291463.1:c.198+86A>G p.? p.? 4 4 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36287273 A G - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution intron GRCh37 36287273 36287273 Chr17(GRCh37):g.36287273A>G 198+86 198+86 NM_001291459.1:c.198+86A>G p.? p.? 4 4 86 5' 94.3644 X.71 0.994726 13.8802 94.3644 X.71 0.994726 13.8802 0 transition A G A>G 0.953 -1.489 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . -0.7286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . @ . . . . . . ENSG00000185128 TBC1D3 . ENST00000539424:c.-439A>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 36291578 G C - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001123391.3:c.762+64G>C p.? p.? 10 10 607741 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001001418.6:c.762+64G>C p.? p.? 10 10 610806 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001291465.1:c.762+64G>C p.? p.? 10 10 610807 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001291466.1:c.762+64G>C p.? p.? 10 10 610808 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001123392.3:c.762+64G>C p.? p.? 10 10 610811 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001291463.1:c.762+64G>C p.? p.? 10 10 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36291578 G C - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution intron GRCh37 36291578 36291578 Chr17(GRCh37):g.36291578G>C 762+64 762+64 NM_001291459.1:c.762+64G>C p.? p.? 10 10 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.252 0.125 178 PASS . . . . . . . . . . . . . . . . 0.10952381 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 210.0 . . . . . . . . . . -0.2172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.36 182 ENSG00000185128 TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,195,255 +. 17 36292954 G C - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001123391.3:c.985G>C p.Val329Leu p.Val329Leu 13 607741 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001001418.6:c.985G>C p.Val329Leu p.Val329Leu 13 610806 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001291465.1:c.985G>C p.Val329Leu p.Val329Leu 13 610807 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 259.64 IV.86 Tolerated 0.68 II.71 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001291466.1:c.985G>C p.Val329Leu p.Val329Leu 13 610808 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001123392.3:c.985G>C p.Val329Leu p.Val329Leu 13 610811 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001291463.1:c.985G>C p.Val329Leu p.Val329Leu 13 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +. 17 36292954 G C - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution missense exon GRCh37 36292954 36292954 Chr17(GRCh37):g.36292954G>C 985 985 NM_001291459.1:c.985G>C p.Val329Leu p.Val329Leu 13 57 3' 70.103 8.45718 0.917051 8.17679 70.103 8.45718 0.917051 7.82355 0 Cryptic Acceptor Strongly Activated 36292971 1.20645 0.010202 68.9757 2.0638 0.012971 68.9757 transversion G C G>C 0.374 0.367 V Val GTT 0.178 L Leu CTT 0.129 329 12 2 Chimp 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Tolerated 0.38 II.81 151 PASS . . . . . . . . . . . . . . . . 0.10471204 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.012 . . 191.0 . . . . . . . . . . -1.3841 -1.460 -1.384 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.072 . . . . T 0.071 0.003 . . 37 . 0.134 . . 0.322 . . . 0.404 0.216 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 . . . . . . . . 0.135 . LowAF 0.64 . . . . . . . . . . . . . . . . . . . 0.750000 . . . . . . 0.049 . . . . . . . . . . . . . . . . . . . . . . 0.558 . 0.119 0.119000 . . 0.750000 . . 1.0E-151 0.020 0.195 . 0.043 0.005 . 0.129 . 0.016 0.119 0.562 . . . . . 1 1538 10 1/0 0,200,255 +rs774525602 17 36294111 G A - TBC1D3 19031 TBC1 domain family, member 3 NM_001123391.3 1 2260 1650 NP_001116863.3 A6NER0 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001123391.3:c.1161G>A p.Arg387= p.Arg387Arg 14 607741 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3C 24889 TBC1 domain family, member 3C NM_001001418.6 1 2105 1650 NP_001001418.5 A6NER0 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001001418.6:c.1161G>A p.Arg387= p.Arg387Arg 14 610806 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3D 28944 TBC1 domain family member 3D NM_001291465.1 1 2065 1650 NP_001278394.1 A0A087WVF3 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001291465.1:c.1161G>A p.Arg387= p.Arg387Arg 14 610807 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3E 27071 TBC1 domain family, member 3E NM_001291466.1 1 2063 1650 NP_001278395.1 A0A087X179 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001291466.1:c.1161G>A p.Arg387= p.Arg387Arg 14 610808 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3H 30708 TBC1 domain family, member 3H NM_001123392.3 1 2135 1650 NP_001116864.3 P0C7X1 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001123392.3:c.1161G>A p.Arg387= p.Arg387Arg 14 610811 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3I 32709 TBC1 domain family, member 3I NM_001291463.1 1 2065 1650 NP_001278392.1 A0A087WXS9 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001291463.1:c.1161G>A p.Arg387= p.Arg387Arg 14 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +rs774525602 17 36294111 G A - TBC1D3L 51246 TBC1 domain family, member 3L NM_001291459.1 1 2079 1650 NP_001278388.1 B9A6J9 substitution synonymous exon GRCh37 36294111 36294111 Chr17(GRCh37):g.36294111G>A 1161 1161 NM_001291459.1:c.1161G>A p.Arg387= p.Arg387Arg 14 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.378 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12624584 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 301.0 . . . . . . . . . . -0.1389 -0.169 -0.139 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.5 0.71 182 ENSG00000185128 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.190 . . 0.057 . 0.254 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,181,255 +. (chr17:36335368 A/C) 17 36335368 A C Not on a known gene +. (chr17:36338296 C/G) 17 36338296 C G Transcript NM_032258.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TBC1D3F +. 17 36338296 C G - TBC1D3K 51245 TBC1 domain family, member 3K NM_001291464.1 -1 2065 1650 NP_001278393.1 A0A087X1G2 substitution synonymous exon GRCh37 36338296 36338296 Chr17(GRCh37):g.36338296C>G 1380 1380 NM_001291464.1:c.1380G>C p.Thr460= p.Thr460Thr 14 299 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.38 0 COSM3680343 Haematopoietic and lymphoid tissue 0.000283 3530 transversion G C G>C 0.039 0.125 T Thr ACG 0.116 T Thr ACC 0.361 460 195 PASS . . . . . . . . . . . . . . . . 0.14622642 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 212.0 . . . . . . . . . . -0.2280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.74 182 ENSG00000197681 TBC1D3 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . rs3895688 rs3895688 rs3895688 rs3895688 1 1538 10 1/0 0,198,255 +. (chr17:36338515 C/T) 17 36338515 C T Transcript NM_032258.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) TBC1D3F +. 17 36338515 C T - TBC1D3K 51245 TBC1 domain family, member 3K NM_001291464.1 -1 2065 1650 NP_001278393.1 A0A087X1G2 substitution synonymous exon GRCh37 36338515 36338515 Chr17(GRCh37):g.36338515C>T 1161 1161 NM_001291464.1:c.1161G>A p.Arg387= p.Arg387Arg 14 80 3' 92.0424 X.92 0.970987 XII.38 92.0424 X.92 0.970987 XII.78 0 transition G A G>A 0.102 0.125 R Arg AGG 0.207 R Arg AGA 0.205 387 186 PASS . . . . . . . . . . . . . . . . 0.12631579 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 285.0 . . . . . . . . . . -0.1931 -0.174 -0.193 n . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . 0.138 @ . . . 0.55 0.76 182 ENSG00000197681 TBC1D3 . . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.558 . . . . . . . . 1.0E-186 0.000 0.063 . 0.146 . . 0.030 . 0.258 . . . rs3896258 rs3896258 rs3896258 rs3896258 1 1538 10 1/0 0,183,255 +rs751395292 (chr17:36339588 G/C) 17 36339588 G C Transcript NM_032258.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) TBC1D3F +rs751395292 17 36339588 G C - TBC1D3K 51245 TBC1 domain family, member 3K NM_001291464.1 -1 2065 1650 NP_001278393.1 A0A087X1G2 substitution missense exon GRCh37 36339588 36339588 Chr17(GRCh37):g.36339588G>C 1069 1069 NM_001291464.1:c.1069C>G p.Leu357Val p.Leu357Val 13 -13 5' 79.7784 8.06623 0.849096 II.21 79.7784 8.06623 0.849096 2.71456 0 rs751395292 yes no Frequency 1 0.000000 0 0.000123 0.000000 0.000039 0.000000 0.000000 0.000871 0.000044 0.000000 0.000000 0.000871 20 0 1 0 0 16 3 0 0 163190 17416 25888 5490 13296 18372 68778 9554 4396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 1 0 0 16 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 1.000 1.981 L Leu CTG 0.404 V Val GTG 0.468 357 12 6 Zebrafish 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 180.25 0.00 Tolerated 0.97 II.54 182 PASS . . . . . . . . . . . . . . . . 0.116883114 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.474 . . 154.0 . . . . . . . . . . -0.2310 -0.498 -0.231 c . . . . . 9.397e-05 . . . 0 0.0001 0 0 0 0 0 0.0006 0 0.0001 0 0 0 0 0 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.138 @ . . . 0.49 0.73 182 ENSG00000197681 TBC1D3 . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.206 . . . . T 0.215 0.008 . . 37 . 0.363 . . 0.061 . . . 0.603 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.899 . . 0.764 . . . . . . 0 . . . . . . . . 0.052 . LowAF 0.11 rs751395292 . . . . . . . . . . . . . . . 0.109 0.109 . 0.120000 . . . . . . 0.291 . . . 0 0.0001 3.986e-05 0 0 0 5.34e-05 0 0.0009 0 0 0 0 0 0 0 0 . . 0.558 . 0.181 0.181000 . . 0.120000 . . 1.0E-182 0.042 0.209 . 0.124 0.082 . 0.363 . 0.277 0.181 0.060 . rs62073819 rs62073819 rs62073819 rs62073819 1 1538 10 1/0 0,209,255 +. 17 36341048 C G - TBC1D3F 18257 TBC1 domain family, member 3F NM_032258.4 -1 2079 1650 NP_115634.3 Q8IZP1 substitution intron GRCh37 36341048 36341048 Chr17(GRCh37):g.36341048C>G 762+64 762+64 NM_032258.4:c.762+64G>C p.? p.? 10 10 610809 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.331 0.205 198 PASS . . . . . . . . . . . . . . . . 0.15492958 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 213.0 . . . . . . . . . . -0.3230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.34 182 . TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,198,255 +. 17 36341048 C G - TBC1D3K 51245 TBC1 domain family, member 3K NM_001291464.1 -1 2065 1650 NP_001278393.1 A0A087X1G2 substitution intron GRCh37 36341048 36341048 Chr17(GRCh37):g.36341048C>G 762+64 762+64 NM_001291464.1:c.762+64G>C p.? p.? 10 10 64 5' 95.6376 X.36 0.995708 X.83 95.6376 X.36 0.995708 X.55 0 transversion G C G>C 0.331 0.205 198 PASS . . . . . . . . . . . . . . . . 0.15492958 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 213.0 . . . . . . . . . . -0.3230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.34 182 . TBC1D3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . rs78802097 rs78802097 1 1538 10 1/0 0,198,255 +. (chr17:36398140 TCTCA/T) 17 36398140 TCTCA T Not on a known gene +rs71384243 17 36734707 A G - SRCIN1 29506 SRC kinase signaling inhibitor 1 NM_025248.2 -1 7050 3552 NP_079524.2 substitution intron GRCh37 36734707 36734707 Chr17(GRCh37):g.36734707A>G 324+36 324+36 NM_025248.2:c.324+36T>C p.? p.? 2 2 610786 36 5' 95.6376 X.36 0.988469 16.7104 95.6376 X.36 0.988469 16.8664 0 rs71384243 yes no Frequency 1 A 0.000000 0 0.000046 0.000000 0.000259 0.000000 0.000000 0.000000 0.000029 0.000000 0.000000 0.000259 10 0 7 0 0 0 3 0 0 218532 19944 26994 6272 16466 20680 101786 21406 4984 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 7 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.23404256 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 47.0 . . INTRON(MODIFIER||||SRCIN1|mRNA|CODING|NM_025248|) . . . . . . . 0.2085 . . . . . . . . . . . . 0 0.0036 0.0625 0 0 0.0020 0 0 0 0.0045 0.0882 0 0 0.0026 0.1 0 . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.55 182 ENSG00000017373 SRCIN1 SRCIN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs71384243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.79e-05 0.0002 0 0 0 3.45e-05 0 0 0 3.262e-05 0.0012 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71384243 rs71384243 rs71384243 1 1538 10 1/0 0,255,255 +rs200827941 17 36958425 G T - CWC25 25989 CWC25 spliceosome-associated protein homolog NM_017748.4 -1 3103 1278 NP_060218.1 Q9NXE8 substitution missense exon GRCh37 36958425 36958425 Chr17(GRCh37):g.36958425G>T 1198 1198 NM_017748.4:c.1198C>A p.Leu400Met p.Leu400Met 10 35 3' 81.1784 9.40339 0.95875 IX.25 81.1784 9.40339 0.95875 10.0811 0 rs200827941 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000610 0.000083 0.000262 0.000197 0.000000 0.000585 0.000932 0.000543 0.000929 0.000932 169 2 9 2 0 18 118 14 6 277074 24018 34368 10148 18868 30764 126674 25776 6458 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 167 2 9 2 0 16 118 14 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8236 3800 12036 6 0 6 0.000727979 0 0.000498256 0.000727979 0 0.000498256 59 transversion C A C>A 0.984 0.528 L Leu CTG 0.404 M Met ATG 1.000 400 13 8 Zebrafish 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 353.86 0.00 Deleterious 0.04 3.II 255 PASS . . . . . . 0.0002 0.0014 . . . . . CWC25:NM_017748:exon10:c.C1198A:p.L400M . . 0.4923077 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.709 . @ . . . . . 1 0.751 . . 65.0 . . . . 0.0005 0.0007 . 0.0005 0.0007 . 0.4041 0.359 0.404 c . . . . . 6.402e-04 . . . 0 0.0005 0.0003 0 0.0003 0.0007 0 0.0004 0 0.0006 0.0004 0 0.0011 0.0009 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.329 0.0002 . . . 0.41 0.39 182 ENSG00000108296 CWC25 CWC25 . . . 0.879 0.255 . 34 0.00052327 64976 33 0.000550128 59986 Uncertain_significance . 0 . 0.439 . . . . T 0.199 0.007 . . 37 . 0.587 . . 0.602 . . . 0.681 0.473 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.764 . . 0.666 . . . . . . 0 . . . . . . 0.073 . 0.550 . HET 0.04 rs200827941 . . . . . . . . . . . . III.44 0.0 . 5.V II.93 . 0.010000 . . . . 0.000498 . 0.505 . . II.93 6.542e-05 0.0006 0.0003 0.0002 0 0.0005 0.0009 0.0011 0.0006 0.0001 0.0006 0 0 0 0.0006 0.0011 0 . . 0.730 . 1.363 1.363000 . . 0.010000 . . 1.0E-255 0.995 0.385 . 0.750 0.936 . 0.301 . 0.713 1.363 0.069 0.0007 . . rs200827941 rs200827941 1 1538 10 1/0 0,255,255 +rs549906574 17 36982086 T C - CWC25 25989 CWC25 spliceosome-associated protein homolog NM_017748.4 -1 3103 1278 NP_060218.1 Q9NXE8 substitution upstream GRCh37 36982086 36982086 Chr17(GRCh37):g.36982086T>C -650 -650 NM_017748.4:c.-650A>G p.? p.? 1 -668 5' 87.1266 10.0978 0.929998 XI.86 87.1266 10.0978 0.929998 XI.86 0 rs549906574 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.002300 0.005100 0.000000 0.009900 0.002900 0.008813 0.002063 0.003580 0.016556 0.000000 0.000000 0.013616 0.008883 0.010101 0.016556 276 18 3 5 0 0 209 31 10 31316 8724 838 302 1622 0 15350 3490 990 0.000192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000391 0.000000 0.000000 3 0 0 0 0 0 3 0 0 270 18 3 5 0 0 203 31 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 0.367 255 PASS . . . . . 0.0023 0.004 0.0029 . 0.0099 0.0051 . . . . . 0.47619048 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . . . . . . . . . 0.9716 . . . . . . . . 3.350e-03 . . . 0 0 . 0 . . . . . 0 . . . . . . . . . . . . upstream upstream upstream . . . 0.0040 . . . . . . . . . . . . . . . 652 0.0100345 64976 632 0.0105358 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs549906574 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 . 0 0 . 0.0021 0.0089 0.0036 0.0166 0 0.0089 0.0139 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs549906574 17 36982086 T C - MIR4727 41709 MicroRNA 4727 NR_039880.1 1 55 0 substitution upstream GRCh37 36982086 36982086 Chr17(GRCh37):g.36982086T>C -5 -5 NR_039880.1:n.-5T>C p.? p.? 1 rs549906574 yes no Frequency/1000G 2 T 0.000000 0 0.003994 0.002300 0.005100 0.000000 0.009900 0.002900 0.008813 0.002063 0.003580 0.016556 0.000000 0.000000 0.013616 0.008883 0.010101 0.016556 276 18 3 5 0 0 209 31 10 31316 8724 838 302 1622 0 15350 3490 990 0.000192 0.000000 0.000000 0.000000 0.000000 0.000000 0.000391 0.000000 0.000000 3 0 0 0 0 0 3 0 0 270 18 3 5 0 0 203 31 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 0.367 255 PASS . . . . . 0.0023 0.004 0.0029 . 0.0099 0.0051 . . . . . 0.47619048 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . . . . . . . . . 0.9716 . . . . . . . . 3.350e-03 . . . 0 0 . 0 . . . . . 0 . . . . . . . . . . . . upstream upstream upstream . . . 0.0040 . . . . . . . . . . . . . . . 652 0.0100345 64976 632 0.0105358 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs549906574 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . 0 . 0 0 . 0.0021 0.0089 0.0036 0.0166 0 0.0089 0.0139 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs185471109 17 37253051 A G - PLXDC1 20945 Plexin domain containing 1 NM_020405.4 -1 6252 1503 NP_065138.2 Q8IUK5 substitution intron GRCh37 37253051 37253051 Chr17(GRCh37):g.37253051A>G 811+9056 811+9056 NM_020405.4:c.811+9056T>C p.? p.? 7 7 606826 9056 5' 95.6376 X.36 0.996084 XII.48 95.6376 X.36 0.996084 XII.48 0 rs185471109 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.001500 0.003100 0.000000 0.008900 0.004300 0.005715 0.000687 0.004773 0.003311 0.000000 0.000000 0.010196 0.002577 0.004090 0.010196 177 6 4 1 0 0 153 9 4 30970 8734 838 302 1620 0 15006 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 177 6 4 1 0 0 153 9 4 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition T C T>C 0.000 -0.117 255 PASS 0.002 0.0032 0.01 . 0.004 0.0015 0.0034 0.0043 . 0.0089 0.0031 . . . . . 0.45238096 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||PLXDC1|mRNA|CODING|NM_020405|) . . . . . . . 0.0206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0034 . . . 0.33 0.18 182 ENSG00000263818 . PLXDC1 . . . . . . 521 0.00801835 64976 504 0.00840196 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185471109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0057 0.0048 0.0033 0 0.0026 0.0102 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs185471109 rs185471109 1 1538 10 1/0 0,255,255 +. 17 37296243 T G - PLXDC1 20945 Plexin domain containing 1 NM_020405.4 -1 6252 1503 NP_065138.2 Q8IUK5 substitution intron GRCh37 37296243 37296243 Chr17(GRCh37):g.37296243T>G 77-158 77-158 NM_020405.4:c.77-158A>C p.? p.? 2 1 606826 -158 3' 86.371 XI.69 0.994677 XI.86 86.371 XI.69 0.994677 XI.86 0 transversion A C A>C 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.5263158 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . INTRON(MODIFIER||||PLXDC1|mRNA|CODING|NM_020405|) . . . . . . . 0.2457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000161381 PLXDC1 PLXDC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149927735 17 38938736 G A - KRT27 30841 Keratin 27 NM_181537.3 -1 1612 1380 NP_853515.2 Q7Z3Y8 substitution missense exon GRCh37 38938736 38938736 Chr17(GRCh37):g.38938736G>A 10 10 NM_181537.3:c.10C>T p.Arg4Cys p.Arg4Cys 1 616676 -435 5' 94.6711 X.63 0.998184 3.80149 94.6711 X.63 0.998184 3.80149 0 rs149927735 yes no Frequency 1 G 0.000000 0 0.000093 0.000000 0.000000 0.001114 0.000000 0.000000 0.000091 0.000048 0.000194 0.001114 19 0 0 9 0 0 8 1 1 204488 18886 26708 8080 13744 23158 87746 21008 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 0 9 0 0 8 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4396 12982 2 0 2 0.000232883 0 0.000154036 0.000232883 0 0.000154036 29 transition C T C>T 0.094 0.609 R Arg CGC 0.190 C Cys TGC 0.552 4 11 10 Dog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C55 26.00 177.62 Deleterious 0 III.67 bad 4.911E-5 0.0002231 255 PASS . . . . . . . . . . . ENSG00000171446:ENST00000301656:exon1:c.C10T:p.R4C KRT27:uc002hvg.3:exon1:c.C10T:p.R4C KRT27:NM_181537:exon1:c.C10T:p.R4C . . 0.5730337 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.539 . @ . . . . . 1 0.785 . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R4C|KRT27|mRNA|CODING|NM_181537|NM_181537.ex.1) . 0.0002 0.0002 . 0.0002 0.0002 . -0.0678 0.005 -0.068 c . . . . . 7.979e-05 . . . 0 0.0002 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.842 . . exonic exonic exonic . . 0.382 @ . . . 0.16 0.27 182 ENSG00000171446 KRT27 KRT27 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.410 . . . . D 0.822 0.139 . . 37 . 0.810 . . 0.812 . . . 0.631 0.331 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.679 . . 0 0 0 0 0 0 . 0.226 . . 0.210 . . . . . . 0 0.574 . . . . . 0.104 . 0.376 . HET 0.02 rs149927735 . . . . . . . . . . . . IV.18 0.0 ENST00000301656 V.59 III.43 . 0.070000 Q7Z3Y8 . . . 0.000154 . 0.289 . . III.43 0 0.0001 0 0.0012 0 5.709e-05 9.622e-05 0.0002 0 0 3.23e-05 0 0 0 0 6.668e-05 0 . . 0.185 . 1.431 1.431000 . . 0.070000 . . 1.0E-255 0.067 0.218 . 0.318 0.878 . 0.200 . 0.713 1.431 -0.045 0.0002 . . rs149927735 rs149927735 1 1538 10 1/0 0,255,255 +rs201760882 17 39021257 A T - KRT12 6414 Keratin 12 NM_000223.3 -1 1992 1485 NP_000214.1 Q99456 substitution intron GRCh37 39021257 39021257 Chr17(GRCh37):g.39021257A>T 651-43 651-43 NM_000223.3:c.651-43T>A p.? p.? 3 2 601687 -43 3' 87.7713 8.82766 0.960477 12.0948 87.7713 8.82766 0.960477 XI.06 0 New Acceptor Site 39021255 4.93742 0.009496 74.4776 39021258 -5.96791 rs201760882 yes no Frequency/1000G 2 A 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001778 0.000250 0.000494 0.000394 0.000000 0.000162 0.003283 0.001439 0.001239 0.003283 492 6 17 4 0 5 415 37 8 276780 24014 34410 10152 18848 30778 126400 25720 6458 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 486 6 17 4 0 5 411 35 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4405 12980 25 1 26 0.00290698 0.000226963 0.00199908 0.00290698 0.000226963 0.00199908 31 transversion T A T>A 0.000 -0.602 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.51648355 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . INTRON(MODIFIER||||KRT12|mRNA|CODING|NM_000223|) 0.0002 0.002 0.0029 0.0002 0.002 0.0029 . 0.0920 . . . . . . . . 1.657e-03 . . . 0.0003 0.0013 0.0005 0 0.0008 0.0025 0.0014 0.0001 0.0002 0.0014 0.0005 0 0.0008 0.0024 0 0.0001 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.3 0.31 182 ENSG00000187242 KRT12 KRT12 . . . . . . 88 0.00135435 64976 86 0.00143367 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.001999 . . . . . 0.0002 0.0015 0.0004 0.0004 0 0.0013 0.0029 0.0009 0.0002 0.0003 0.0036 0.0024 0 0 0.0020 0.0065 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0029 . . rs201760882 rs201760882 1 1538 10 1/0 0,255,255 +. 17 39324229 T TGCAGCAGGTGGTCAG - KRTAP4-3 18908 Keratin associated protein 4-3 NM_033187.1 -1 942 588 NP_149443.1 Q9BYR4 insertion in-frame exon GRCh37 39324229 39324230 Chr17(GRCh37):g.39324229_39324230insGCAGCAGGTGGTCAG 195 196 NM_033187.1:c.195_196insCTGACCACCTGCTGC p.Cys65_Arg66insLeuThrThrCysCys p.Cys65_Arg66insLeuThrThrCysCys 1 Keratin, high sulphur B2 rs747800907 no no 0 0.000000 0 4927 1746 6673 951 169 1120 0.16179 0.0882507 0.143719 0.16179 0.0882507 0.143719 4 COSM5445846|COSM1383099|COSM1383099|COSM1383099|COSM1383099 Thyroid|Stomach|Lung|Large intestine|Central nervous system 0.002677|0.002323|0.000418|0.002252|0.001259 747|861|2394|2220|2383 CTGACCACCTGCTGC 255 Pass . . . . . . . . . . . ENSG00000196156:ENST00000391356:exon1:c.195_196insCTGACCACCTGCTGC:p.R66delinsLTTCCR KRTAP4-3:uc010cxl.3:exon1:c.195_196insCTGACCACCTGCTGC:p.R66delinsLTTCCR KRTAP4-3:NM_033187:exon1:c.195_196insCTGACCACCTGCTGC:p.R66delinsLTTCCR . . 0.2451613 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 155 . . STOP_GAINED(HIGH||tgc/tgCTGACCACCTGCTGCc|C65C*PPAA|KRTAP4-3|mRNA|CODING|NM_033187|NM_033187.ex.1) 0.067 0.13 0.16 0.068 0.13 0.16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000196156 KRTAP4-3 KRTAP4-3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs747800907 . . . . . . ID\x3dCOSM1383099\x3bOCCURENCE\x3d11(large_intestine) . . . . . . . . . . . . . . . . 0.132381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.16 . . . . 1 1538 10 1.I 0,9,61 +rs2320230 17 39340852 G A - KRTAP4-1 18907 Keratin associated protein 4-1 NM_033060.2 -1 739 384 NP_149049.1 substitution intron GRCh37 39340852 39340852 Chr17(GRCh37):g.39340852G>A 239+16 239+16 NM_033060.2:c.239+16C>T p.? p.? 1 1 16 5' 36.4581 0 4.9e-05 0 36.4581 0 4.9e-05 0 0 rs2320230 yes no Frequency/1000G 2 G 0.000000 0 0.583267 0.585500 0.647200 0.553600 0.570600 0.550400 0.002174 0.001856 0.001487 0.001806 0.001408 0.002654 0.002638 0.001672 0.000693 0.002654 536 38 47 16 25 74 294 38 4 246500 20470 31602 8858 17754 27878 111440 22728 5770 0.001923 0.001759 0.001392 0.001806 0.001127 0.002583 0.002261 0.001320 0.000693 237 18 22 8 10 36 126 15 2 62 2 3 0 5 2 42 8 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.843 -0.198 255 PASS 0.68 0.72 0.79 0.76 0.7 0.59 0.58 0.55 0.55 0.57 0.65 ENSG00000198443:ENST00000398472:exon1:c.C255T:p.R85R . . . . 0.7848101 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||KRTAP4-1|mRNA|CODING|NM_033060|) . . . . . . . 0.8233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic intronic . . . 0.4167 . . . 0.13 0.2 182 ENSG00000198443 KRTAP4-1 KRTAP4-1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2320230 0.011 0.029 . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . 0.0031 0.0025 0.0015 0.0019 0.0015 0.0020 0.0030 0.0008 0.0027 0 3.36e-05 0 0 0 0 6.941e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.79 rs2320230 rs2320230 rs2320230 rs2320230 1 1538 10 1/0 0,255,255 +. 17 39346424 TGTG T - KRTAP9-1 18912 Keratin associated protein 9-1 NM_001190460.1 1 753 753 NP_001177389.1 A8MXZ3 deletion in-frame exon GRCh37 39346426 39346428 Chr17(GRCh37):g.39346426_39346428del 288 290 NM_001190460.1:c.288_290del p.Gly97del p.Gly97del 1 rs376633756 yes no Frequency 1 0.000000 0 0.000005 0.000000 0.000000 0.000145 0.000000 0.000000 0.000000 0.000000 0.000000 0.000145 1 0 0 1 0 0 0 0 0 214156 19714 23620 6906 14646 25978 97290 21026 4976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes TGG 255 Pass . . . . . . . . . . . . KRTAP9-1:uc021txf.1:exon1:c.287_289del:p.96_97del KRTAP9-1:NM_001190460:exon1:c.287_289del:p.96_97del . . 0.10650887 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 169 . . CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||tgtggc/tgc|CG96C|KRTAP9-1|mRNA|CODING|NM_001190460|NM_001190460.ex.1) . . . . . . . . . . . . . . . . 1.106e-04 . . . 0 8.762e-05 0 0.0003 0.0005 0.0001 0 0 0 4.668e-05 0 0 0.0003 6.16e-05 0 0 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000240542 KRTAP9-1 KRTAP9-1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs376633756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.448e-06 0 0.0002 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs376633756 rs376633756 1 1538 10 1.I 0,4,97 +rs753993964 17 39346432 A G - KRTAP9-1 18912 Keratin associated protein 9-1 NM_001190460.1 1 753 753 NP_001177389.1 A8MXZ3 substitution synonymous exon GRCh37 39346432 39346432 Chr17(GRCh37):g.39346432A>G 294 294 NM_001190460.1:c.294A>G p.Gln98= p.Gln98Gln 1 rs753993964 yes no Frequency 1 0.000000 0 0.000007 0.000000 0.000000 0.000212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000212 1 0 0 1 0 0 0 0 0 149626 9552 19544 4720 11370 20922 65046 15150 3322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 231 Exomes transition A G A>G 0.134 -0.037 Q Gln CAA 0.256 Q Gln CAG 0.744 98 181 PASS . . . . . . . . . . . ENSG00000240542:ENST00000398470:exon1:c.A294G:p.Q98Q KRTAP9-1:uc021txf.1:exon1:c.A294G:p.Q98Q KRTAP9-1:NM_001190460:exon1:c.A294G:p.Q98Q . . 0.115606934 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 173.0 . . SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q98|KRTAP9-1|mRNA|CODING|NM_001190460|NM_001190460.ex.1) . . . . . . . 0.1603 . . . . . . . . 1.106e-04 . . . 0 0.0001 0 0.0004 0.0006 0.0002 0 0 0 7.088e-05 0 0 0.0005 9.3e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000240542 KRTAP9-1 KRTAP9-1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs753993964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.683e-06 0 0.0002 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +rs71371478 17 39383027 G T - KRTAP9-2 16926 Keratin associated protein 9-2 NM_031961.2 1 1005 525 NP_114167.2 Q9BYQ4 substitution missense exon GRCh37 39383027 39383027 Chr17(GRCh37):g.39383027G>T 121 121 NM_031961.2:c.121G>T p.Ala41Ser p.Ala41Ser 1 Keratin, high sulphur B2 protein rs71371478 yes no Frequency 1 0.000000 0 0.002804 0.001056 0.001563 0.000102 0.000769 0.000279 0.000408 0.025843 0.000522 0.025843 706 23 46 1 13 8 48 564 3 251746 21774 29434 9758 16904 28664 117646 21824 5742 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 706 23 46 1 13 8 48 564 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM221831|COSM221831|COSM221831|COSM221831|COSM221831|COSM221831|COSM221831 Thyroid|Skin|Prostate|Pancreas|Large intestine|Kidney|Haematopoietic and lymphoid tissue 0.001339|0.000812|0.000567|0.000576|0.000448|0.000578|0.000567 747|1232|1764|1736|2231|1729|3530 transversion G T G>T 0.945 -0.117 A Ala GCC 0.403 S Ser TCC 0.220 41 8 1 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 221.66 0.00 Tolerated 1 III.50 good 9.981E-1 0.004671 209 PASS . . . . . . . . . . . . KRTAP9-2:uc002hwf.3:exon1:c.G121T:p.A41S KRTAP9-2:NM_031961:exon1:c.G121T:p.A41S . . 0.18181819 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.002 . . 110.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A41S|KRTAP9-2|mRNA|CODING|NM_031961|NM_031961.ex.1) . . . . . . . -2.6381 -2.553 -2.638 c . . . . . 1.721e-03 . . . 0.0019 0.0013 0.0008 0.0020 0.0011 0.0015 0 0.0007 0.0009 0.0005 0.0006 0.0011 0.0006 0.0003 0 0.0006 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.054 @ . . . 0.16 0.16 182 ENSG00000239886 KRTAP9-2 KRTAP9-2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.040 0.002 . . 37 . 0.003 . . 0.392 . . . 0.010 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.138 . 0.117 . HET 0.99 . . . . . . . . . . . . . 5.0512 2.68E-4 . II.86 -2.81 . 1.000000 Q9BYQ4 . . . . . 0.037 . . . 0.0003 0.0028 0.0015 0 0.0003 0.0287 0.0002 0.0002 0.0003 0.0025 0.0030 0.0035 0.0041 0.0070 0.0036 0.0028 0.0028 . . 0.133 . -1.243 -1.243000 . . 1.000000 . . 1.0E-209 0.000 0.063 . 0.185 0.962 . 0.008 . 0.000 -1.243 -1.709 . . rs71371478 rs71371478 rs71371478 1 1538 10 1/0 0,230,255 +rs71371479 17 39383041 C T - KRTAP9-2 16926 Keratin associated protein 9-2 NM_031961.2 1 1005 525 NP_114167.2 Q9BYQ4 substitution synonymous exon GRCh37 39383041 39383041 Chr17(GRCh37):g.39383041C>T 135 135 NM_031961.2:c.135C>T p.Ser45= p.Ser45Ser 1 Keratin, high sulphur B2 protein rs71371479 yes no Frequency 1 0.000000 0 0.001242 0.000266 0.000066 0.000000 0.000114 0.000034 0.000116 0.013040 0.000503 0.013040 322 6 2 0 2 1 14 294 3 259220 22532 30436 9904 17580 29300 120962 22546 5960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 322 6 2 0 2 1 14 294 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1128713|COSM1128713 Prostate|Large intestine 0.000567|0.000896 1764|2231 transition C T C>T 0.992 1.658 S Ser TCC 0.220 S Ser TCT 0.185 45 191 PASS . . . . . . . . . . . . KRTAP9-2:uc002hwf.3:exon1:c.C135T:p.S45S KRTAP9-2:NM_031961:exon1:c.C135T:p.S45S . . 0.13725491 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 102.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S45|KRTAP9-2|mRNA|CODING|NM_031961|NM_031961.ex.1) . . . . . . . 1.0330 . . . . . . . . 5.133e-04 . . . 0.0007 0.0004 8.803e-05 0.0005 0.0003 0.0004 0 0.0002 0.0001 8.657e-05 0 0.0003 0.0002 3.779e-05 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.09 0.19 182 ENSG00000239886 KRTAP9-2 KRTAP9-2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . ID\x3dCOSM1128713\x3bOCCURENCE\x3d1(prostate) . . . . . . . . . . . . . . . . . . . . . II.85 0 0.0013 3.354e-05 0 0 0.0146 1.841e-05 0.0002 3.413e-05 0.0008 0.0011 0.0016 0 0.0016 0.0015 0.0010 0.0025 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . rs71371479 rs71371479 rs71371479 1 1538 10 1/0 0,229,255 +rs756192956 17 39383377 C A - KRTAP9-2 16926 Keratin associated protein 9-2 NM_031961.2 1 1005 525 NP_114167.2 Q9BYQ4 substitution synonymous exon GRCh37 39383377 39383377 Chr17(GRCh37):g.39383377C>A 471 471 NM_031961.2:c.471C>A p.Thr157= p.Thr157Thr 1 Nematoda metallothionein, family 6 Keratin, high sulphur B2 protein rs756192956 yes no Frequency 1 0.000000 0 0.000052 0.000044 0.000029 0.000403 0.000000 0.000000 0.000049 0.000079 0.000000 0.000403 14 1 1 4 0 0 6 2 0 270498 22762 34306 9924 18726 30728 122406 25332 6314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 1 4 0 0 6 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 1.000 1.658 T Thr ACC 0.361 T Thr ACA 0.280 157 204 PASS . . . . . . . . . . . . KRTAP9-2:uc002hwf.3:exon1:c.C471A:p.T157T KRTAP9-2:NM_031961:exon1:c.C471A:p.T157T . . 0.17037037 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 135.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acA|T157|KRTAP9-2|mRNA|CODING|NM_031961|NM_031961.ex.1) . . . . . . . 0.5458 . . . . . . . . 1.899e-04 . . . 0 0.0002 0.0003 0 0.0003 0.0003 0.0016 6.534e-05 0 0.0001 0.0002 0 0.0002 0.0002 0.0016 6.564e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.17 0.18 182 ENSG00000239886 KRTAP9-2 KRTAP9-2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.IV 0 4.154e-05 2.987e-05 0.0004 0 4.57e-05 3.701e-05 0 0 0.0001 0.0001 0 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs71383391 rs71383391 1 1538 10 1/0 0,220,255 +rs748536050 17 39383403 C A - KRTAP9-2 16926 Keratin associated protein 9-2 NM_031961.2 1 1005 525 NP_114167.2 Q9BYQ4 substitution missense exon GRCh37 39383403 39383403 Chr17(GRCh37):g.39383403C>A 497 497 NM_031961.2:c.497C>A p.Ser166Tyr p.Ser166Tyr 1 Nematoda metallothionein, family 6 Keratin, high sulphur B2 protein rs748536050 yes no Frequency 1 0.000000 0 0.000221 0.000503 0.000060 0.000313 0.000709 0.000728 0.000059 0.000000 0.000000 0.000728 58 11 2 3 13 22 7 0 0 262680 21880 33584 9590 18332 30224 118072 24890 6108 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 58 11 2 3 13 22 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6419616 Thyroid 0.001339 747 transversion C A C>A 0.441 1.013 S Ser TCC 0.220 Y Tyr TAC 0.562 166 8 6 Platypus -2 -2 -3 I.42 0.2 9.II 6.II 32 136 144 C0 353.86 0.00 Deleterious 0 III.50 bad 9.173E-5 9.72E-5 223 PASS . . . . . . . . . . . . KRTAP9-2:uc002hwf.3:exon1:c.C497A:p.S166Y KRTAP9-2:NM_031961:exon1:c.C497A:p.S166Y . . 0.22137405 . . @ 29 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.320 . @ . . . . . 1 0.326 . . 131.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S166Y|KRTAP9-2|mRNA|CODING|NM_031961|NM_031961.ex.1) . . . . . . . -0.0352 -0.229 -0.035 c . . . . . 4.201e-04 . . . 0.0019 0.0006 0.0003 0.0012 0.0004 0.0002 0 0.0010 0.0019 0.0004 0.0001 0.0005 0.0002 0.0001 0.0020 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.011 . . exonic exonic exonic . . 0.301 @ . . . 0.15 0.25 182 ENSG00000239886 KRTAP9-2 KRTAP9-2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.080 0.003 . . 37 . 0.058 . . 0.212 . . . 0.666 0.200 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.670 . . 0 0 0 0 0 0 . 0.550 . . 0.497 . . . . . . 0 0.465 . . . . . 0.488 . 0.469 . HET 0.04 . . . . . . . . . . . . . XI.33 . . II.61 II.61 . 0.050000 Q9BYQ4 . . . . . 0.123 . . II.61 0.0006 0.0002 6.104e-05 0.0003 0.0007 0 5.756e-05 0 0.0007 0.0002 0.0002 0 0 0.0013 0 7.23e-05 0 . . 0.133 . 1.766 1.766000 . . 0.050000 . . 1.0E-223 0.001 0.137 . 0.254 0.609 . 0.240 . 0.118 1.766 -0.064 . . . rs68104410 rs68104410 1 1538 10 1/0 0,226,255 +rs531947823 17 39394687 C G - KRTAP9-8 17231 Keratin associated protein 9-8 NM_031963.2 1 987 480 NP_114169.2 Q9BYQ0 substitution synonymous exon GRCh37 39394687 39394687 Chr17(GRCh37):g.39394687C>G 384 384 NM_031963.2:c.384C>G p.Pro128= p.Pro128Pro 1 Nematoda metallothionein, family 6 Keratin, high sulphur B2 protein rs531947823 yes no Frequency/1000G 2 0.000000 0 0.004992 0.017400 0.001000 0.000000 0.000000 0.001400 0.002042 0.020815 0.000785 0.000099 0.000691 0.000292 0.000470 0.000194 0.000938 0.020815 557 437 27 1 13 9 59 5 6 272774 20994 34380 10114 18824 30774 125568 25726 6394 0.000535 0.006764 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000313 73 71 0 0 0 0 1 0 1 411 295 27 1 13 9 57 5 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.984 0.125 P Pro CCC 0.328 P Pro CCG 0.115 128 193 PASS . . . . . 0.017 0.005 0.0014 . . 0.001 ENSG00000187272:ENST00000254072:exon1:c.C384G:p.P128P KRTAP9-8:uc002hwh.4:exon1:c.C384G:p.P128P KRTAP9-8:NM_031963:exon1:c.C384G:p.P128P . . 0.14285715 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 98.0 . . . . . . . . . . 0.3885 . . . . . . . . 2.227e-03 . . . 0.0232 0.0029 0.0010 0.0007 0 0.0006 0.0028 0.0004 0.0227 0.0021 0.0010 0.0004 0.0002 0.0004 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0050 . . . 0.32 0.1 182 ENSG00000187272 KRTAP9-8 KRTAP9-8 . . . . . . 34 0.00052327 64976 13 0.000216717 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs531947823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0223 0.0017 0.0008 0.0001 0.0006 0.0002 0.0004 0.0009 0.0003 0.0177 0.0048 0 0 0.0013 0 0.0007 0.0011 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . rs74803655 rs74803655 1 1538 10 1/0 0,230,255 +. (chr17:39427727 T/A) 17 39427727 T A Not on a known gene +. 17 39507147 CT C - KRT33A 6450 Keratin 33A, type I NM_004138.3 -1 1287 1215 NP_004129.2 O76009 deletion upstream GRCh37 39507148 39507148 Chr17(GRCh37):g.39507148del -129 -129 NM_004138.3:c.-129del p.? p.? 1 602761 -477 5' 90.3122 9.15773 0.990058 6.86576 90.3122 9.15773 0.990058 6.86576 0 rs878868064 no no 0 T 0.000000 0 0.008682 0.008612 0.010000 0.018182 0.009202 0.000000 0.008494 0.005396 0.013514 0.018182 180 52 4 4 12 0 94 6 8 20732 6038 400 220 1304 0 11066 1112 592 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 47 Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.24074075 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 54 . . UPSTREAM(MODIFIER||||KRT33A|mRNA|CODING|NM_004138|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . . . . . . . . ENSG00000006059 KRT33A KRT33A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0086 0.0087 0.01 0.0182 0.0092 0.0054 0.0085 0.0135 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,62 +rs117706286 17 39593638 G C - KRT38 6456 Keratin 38 NM_006771.3 -1 2837 1371 NP_006762.3 O76015 substitution 3'UTR GRCh37 39593638 39593638 Chr17(GRCh37):g.39593638G>C *26 *26 NM_006771.3:c.*26C>G p.? p.? 7 604542 156 3' 90.3894 XI.77 0.950436 14.9872 90.3894 XI.77 0.950436 14.9872 0 New Donor Site 39593639 9.08182 0.89205 81.8924 rs117706286 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000800 0.001000 0.000000 0.005000 0.000000 0.002208 0.000417 0.001203 0.000000 0.000000 0.002997 0.003292 0.000968 0.001615 0.003292 435 8 21 0 0 55 322 22 7 196970 19174 17458 5568 11554 18352 97804 22726 4334 0.000030 0.000000 0.000000 0.000000 0.000000 0.000218 0.000000 0.000088 0.000000 3 0 0 0 0 2 0 1 0 429 8 21 0 0 51 322 20 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4404 12977 27 2 29 0.00313953 0.000453926 0.00222974 0.00313953 0.000453926 0.00222974 20 transversion C G C>G 0.000 -0.117 255 PASS 0.002 0.0018 . . 0.004 0.0008 0.0014 . . 0.005 0.001 . . . . . 0.5365854 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . UTR_3_PRIME(MODIFIER||||KRT38|mRNA|CODING|NM_006771|NM_006771.ex.7) 0.0005 0.0022 0.0031 0.0005 0.0022 0.0031 . -0.2593 . . . . . . . . 1.997e-03 . . . 0.0006 0.0023 0.0011 0 0.0010 0.0030 0.0020 0.0042 0.0004 0.0021 0.0011 0 0.0010 0.0027 0 0.0042 . . . . . . UTR3 UTR3 UTR3 . . . 0.0014 . . . 0.44 0.72 182 ENSG00000171360 KRT38 KRT38 ENST00000246646:c.*26C>G uc002hwq.1:c.*26C>G NM_006771:c.*26C>G . . . 112 0.00172371 64976 105 0.00175041 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117706286 . . . . . . . . . . . . . . . . . . . . . . . 0.002230 . . . . . 0.0004 0.0020 0.0012 0 0 0.0009 0.0029 0.0012 0.0030 0.0005 0.0032 0.0012 0 0 0.0011 0.0057 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs117706286 rs117706286 1 1538 10 1/0 0,255,255 +rs140333312 17 40010572 G A - KLHL11 19008 Kelch-like family member 11 NM_018143.2 -1 7410 2127 NP_060613.1 Q9NVR0 substitution missense exon GRCh37 40010572 40010572 Chr17(GRCh37):g.40010572G>A 1547 1547 NM_018143.2:c.1547C>T p.Thr516Ile p.Thr516Ile 2 1002 3' 89.7214 XI.87 0.98941 5.99754 89.7214 XI.87 0.98941 5.99754 0 rs140333312 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.000800 0.002000 0.000000 0.007000 0.000000 0.004921 0.000375 0.000174 0.003550 0.000000 0.000877 0.004443 0.026367 0.006652 0.026367 1363 9 6 36 0 27 562 680 43 276966 24030 34412 10140 18870 30776 126484 25790 6464 0.000094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000853 0.000309 13 0 0 0 0 0 1 11 1 1337 9 6 36 0 27 560 658 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8567 4406 12973 33 0 33 0.00383721 0 0.00253729 0.00383721 0 0.00253729 78 transition C T C>T 0.984 1.335 T Thr ACT 0.243 I Ile ATT 0.356 516 12 8 Cow -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C15 74.82 89.28 Deleterious 0.01 IV.32 255 PASS 0.002 0.0037 . . 0.01 0.0008 0.002 . . 0.007 0.002 ENSG00000178502:ENST00000319121:exon2:c.C1547T:p.T516I KLHL11:uc002hyf.1:exon2:c.C1547T:p.T516I KLHL11:NM_018143:exon2:c.C1547T:p.T516I . . 0.51724136 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.410 . @ . . . . . 1 0.592 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T516I|KLHL11|mRNA|CODING|NM_018143|NM_018143.ex.2) . 0.0025 0.0038 . 0.0025 0.0038 . -0.1636 0.050 -0.164 c . . . . . 5.122e-03 . . . 0.0004 0.0035 0.0003 0 0.0331 0.0039 0.0070 0.0010 0.0002 0.0051 0.0002 0 0.0302 0.0058 0.0115 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.682 . . exonic exonic exonic . . 0.488 0.0020 . . . 0.56 0.32 182 ENSG00000178502 KLHL11 KLHL11 . . . 0.100 0.164 . 347 0.00534043 64976 337 0.00561798 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.347 . . 0.483 . . . 0.170 0.349 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.176 . . 0.139 . . . . . . 0 0.299 . . . . . 0.255 . 0.109 . HET 0.11 . 0.011 0.007 . . . . . 0.003663003663003663 0.0020325203252032522 0.0 0.0 0.009234828496042216 VII.86 0.0 . V.26 IV.21 . 0.000000 Q9NVR0 . . . 0.002537 . 0.450 . . IV.21 0.0005 0.0046 0.0002 0.0036 0 0.0255 0.0041 0.0049 0.0009 0.0002 0.0077 0 0.0033 0 0.0321 0.0073 0.0163 . . 0.310 . 2.606 2.606000 . . 0.000000 . . 1.0E-255 0.987 0.361 . 0.888 0.991 . 0.416 . 0.416 2.606 -0.044 0.011 . . rs140333312 rs140333312 1 1538 10 1/0 0,255,255 +rs117342079 17 40128938 G A - CNP 2158 2',3'-cyclic nucleotide 3' phosphodiesterase NM_033133.4 1 5222 1266 NP_149124.3 P09543 substitution 3'UTR GRCh37 40128938 40128938 Chr17(GRCh37):g.40128938G>A *2996 *2996 NM_033133.4:c.*2996G>A p.? p.? 4 123830 3446 3' 84.2591 XII.04 0.982909 13.8208 84.2591 XII.04 0.982909 13.8208 0 rs117342079 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.003100 0.000000 0.010900 0.001400 0.004332 0.001263 0.001193 0.006623 0.000617 0.000000 0.007604 0.000573 0.003055 0.007604 134 11 1 2 1 0 114 2 3 30936 8710 838 302 1622 0 14992 3490 982 0.007463 0.000000 0.000000 0.000000 0.000000 0.000000 0.008772 0.000000 0.000000 1 0 0 0 0 0 1 0 0 132 11 1 2 1 0 112 2 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.205 255 PASS . 0.01 0.0028 . 0.01 . 0.003 0.0014 . 0.011 0.0031 . . . . . 0.5405405 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0030 . . . 0.42 0.28 182 ENSG00000173786 CNP CNP ENST00000393892:c.*2996G>A . NM_033133:c.*2996G>A . . . 407 0.00626385 64976 392 0.00653486 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0043 0.0012 0.0066 0.0006 0.0006 0.0076 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117342079 rs117342079 1 1538 10 1/0 0,255,255 +rs117342079 17 40128938 G A - DNAJC7 12392 DnaJ (Hsp40) homolog, subfamily C, member 7 NM_003315.3 -1 2078 1485 NP_003306.3 Q99615 substitution intron GRCh37 40128938 40128938 Chr17(GRCh37):g.40128938G>A 1448-150 1448-150 NM_003315.3:c.1448-150C>T p.? p.? 14 13 601964 -150 3' 91.903 12.664 0.969591 9.72809 91.903 12.664 0.969591 9.72809 0 Cryptic Acceptor Strongly Activated 40128927 3.33362 2.8e-05 57.4173 3.88855 4.6e-05 61.5192 rs117342079 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000000 0.003100 0.000000 0.010900 0.001400 0.004332 0.001263 0.001193 0.006623 0.000617 0.000000 0.007604 0.000573 0.003055 0.007604 134 11 1 2 1 0 114 2 3 30936 8710 838 302 1622 0 14992 3490 982 0.007463 0.000000 0.000000 0.000000 0.000000 0.000000 0.008772 0.000000 0.000000 1 0 0 0 0 0 1 0 0 132 11 1 2 1 0 112 2 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.205 255 PASS . 0.01 0.0028 . 0.01 . 0.003 0.0014 . 0.011 0.0031 . . . . . 0.5405405 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0030 . . . 0.42 0.28 182 ENSG00000173786 CNP CNP ENST00000393892:c.*2996G>A . NM_033133:c.*2996G>A . . . 407 0.00626385 64976 392 0.00653486 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0043 0.0012 0.0066 0.0006 0.0006 0.0076 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117342079 rs117342079 1 1538 10 1/0 0,255,255 +rs139876577 17 40253974 A G - DHX58 29517 DEXH (Asp-Glu-X-His) box polypeptide 58 NM_024119.2 -1 2617 2037 NP_077024.2 Q96C10 substitution intron GRCh37 40253974 40253974 Chr17(GRCh37):g.40253974A>G 1852-10 1852-10 NM_024119.2:c.1852-10T>C p.? p.? 14 13 608588 -10 3' 88.8839 XII.19 0.973909 13.081 85.6012 XII.87 0.945639 XII.45 -0.039909 rs139876577 yes no Frequency/1000G 2 A 0.000000 0 0.003594 0.000800 0.003100 0.000000 0.007000 0.010100 0.005211 0.001736 0.005731 0.003343 0.000057 0.001841 0.008493 0.000412 0.007406 0.008493 1327 39 182 32 1 54 964 10 45 254670 22468 31758 9572 17684 29328 113510 24274 6076 0.000079 0.000000 0.000063 0.000209 0.000000 0.000000 0.000141 0.000000 0.000000 10 0 1 1 0 0 8 0 0 1307 39 180 30 1 54 948 10 45 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8529 4397 12926 71 7 78 0.00825581 0.00158946 0.00599815 0.00825581 0.00158946 0.00599815 20 COSM5021944 Bone 0.001757 569 transition T C T>C 0.000 0.286 255 PASS . 0.0037 0.01 . 0.01 0.0008 0.0036 0.01 . 0.007 0.0031 . . . . . 0.47260273 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . INTRON(MODIFIER||||DHX58|mRNA|CODING|NM_024119|) 0.0016 0.006 0.0083 0.0016 0.006 0.0083 . 1.1587 . . . . . . . . 5.038e-03 . . . 0.0016 0.0071 0.0086 0 0.0004 0.0118 0.0146 0.0024 0.0018 0.0068 0.0087 0 0.0005 0.0108 0.0143 0.0023 . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.36 0.5 182 ENSG00000108771 DHX58 DHX58 . . . . . . 481 0.00740273 64976 463 0.00771847 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139876577 . . . . . . . . . . . . . . . . . . . . 0.0004 0.006 . 0.005998 . . . . . 0.0016 0.0052 0.0057 0.0035 0 0.0005 0.0084 0.0077 0.0018 0.0019 0.0053 0.0060 0 0.0006 0 0.0091 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs139876577 rs139876577 1 1538 10 1/0 0,242,255 +rs62001916 17 40838024 C T - CNTNAP1 8011 Contactin associated protein 1 NM_003632.2 1 5454 4155 NP_003623.1 P78357 substitution synonymous exon GRCh37 40838024 40838024 Chr17(GRCh37):g.40838024C>T 765 765 NM_003632.2:c.765C>T p.Gly255= p.Gly255Gly 6 602346 50 3' 78.741 8.84844 0.863853 10.0891 78.741 8.84844 0.863853 9.81077 0 Cryptic Donor Strongly Activated 40838022 58.3222 2.57415 0.031734 68.3867 Laminin G, subdomain 2 Laminin G, subdomain 1 Laminin G domain rs62001916 yes no Frequency/1000G 2 C 0.000000 0 0.004593 0.000800 0.003100 0.000000 0.008900 0.014400 0.005891 0.002081 0.008890 0.000591 0.000053 0.001819 0.009038 0.000465 0.008815 0.009038 1633 50 306 6 1 56 1145 12 57 277200 24032 34420 10152 18870 30782 126692 25786 6466 0.000101 0.000000 0.000058 0.000000 0.000000 0.000130 0.000158 0.000000 0.000309 14 0 1 0 0 2 10 0 1 1605 50 304 6 1 52 1125 12 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8528 4398 12926 72 8 80 0.00837209 0.00181571 0.00615101 0.00837209 0.00181571 0.00615101 152 transition C T C>T 0.000 -4.153 G Gly GGC 0.342 G Gly GGT 0.162 255 255 PASS . 0.01 0.02 . 0.01 0.0008 0.0046 0.014 . 0.0089 0.0031 . CNTNAP1:uc002iay.3:exon6:c.C765T:p.G255G CNTNAP1:NM_003632:exon6:c.C765T:p.G255G . . 0.57425743 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . 0.0018 0.0062 0.0084 0.0018 0.0062 0.0084 . 0.0940 . . . . . . . . 5.714e-03 . . . 0.0013 0.0062 0.0093 0 0.0003 0.0097 0.0070 0.0018 0.0015 0.0057 0.0094 0 0.0005 0.0082 0.0072 0.0017 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0046 . . . 0.3 0.3 182 ENSG00000108797 CNTNAP1 CNTNAP1 . . . . . . 550 0.00846466 64976 527 0.00878538 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62001916 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.006151 . . . . . 0.0017 0.0060 0.0089 0.0006 0 0.0005 0.0091 0.0086 0.0018 0.0027 0.0054 0.0095 0 0.0006 0 0.0083 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs62001916 rs62001916 rs62001916 rs62001916 1 1538 10 1/0 0,255,255 +. 17 40840512 G C - CNTNAP1 8011 Contactin associated protein 1 NM_003632.2 1 5454 4155 NP_003623.1 P78357 substitution missense exon GRCh37 40840512 40840512 Chr17(GRCh37):g.40840512G>C 1339 1339 NM_003632.2:c.1339G>C p.Val447Leu p.Val447Leu 9 602346 33 3' 89.8469 7.47468 0.912791 8.59354 89.8469 7.47468 0.912791 8.72027 0 Cryptic Acceptor Strongly Activated 40840530 3.45244 0.025102 84.9926 4.10295 0.038201 84.9926 Laminin G, subdomain 2 Laminin G, subdomain 1 Laminin G domain transversion G C G>C 1.000 5.855 V Val GTG 0.468 L Leu CTG 0.404 447 11 11 Frog 1 1 1 0 0 5.IX 4.IX 84 111 32 C25 0.00 30.92 Deleterious 0 IV.32 bad 1.843E-4 0.0001772 255 PASS . . . . . . . . . . . . CNTNAP1:uc002iay.3:exon9:c.G1339C:p.V447L CNTNAP1:NM_003632:exon9:c.G1339C:p.V447L . . 0.4755245 . . @ 68 . . 1.2.2016 0 1 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.639 . @ . . . . . 1 0.904 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V447L|CNTNAP1|mRNA|CODING|NM_003632|NM_003632.ex.9) . . . . . . . 0.7234 0.762 0.723 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.855 . . exonic exonic exonic . . 0.930 @ . . . . . . ENSG00000108797 CNTNAP1 CNTNAP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.718 0.073 . . 37 . 0.884 . . 0.875 . . . 0.640 0.588 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.535 . . 0 0 0 0 0 0 . 0.461 . . 0.517 . . . . . . 0 0.524 . . . . . 0.979 . 0.777 . HET 0.02 . . . . . . . . . . . . . 20.1152 . ENST00000264638 V.83 V.83 . 0.100000 P78357 . . . . . 0.981 . . V.83 . . . . . . . . . . . . . . . . . . . 0.522 . 2.750 2.750000 . . 0.100000 . . 1.0E-255 1.000 0.715 . 0.697 1.000 . 0.932 . 0.713 2.750 0.917 . . . . . 1 1538 10 1/0 0,244,255 +rs375005390 17 41168485 C G - VAT1 16919 Vesicle amine transport protein 1 homolog (T. californica) NM_006373.3 -1 2758 1182 NP_006364.2 Q99536 substitution missense exon GRCh37 41168485 41168485 Chr17(GRCh37):g.41168485C>G 937 937 NM_006373.3:c.937G>C p.Ala313Pro p.Ala313Pro 5 604631 81 3' 89.1279 IX.76 0.942988 6.62149 89.1279 IX.76 0.942988 6.62149 0 Cryptic Acceptor Strongly Activated 41168476 0.118882 4.02719 0.371322 76.1316 Alcohol dehydrogenase, C-terminal Polyketide synthase, enoylreductase rs375005390 yes no Frequency 1 C 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 245824 15276 33570 9838 17248 30780 111382 22250 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 76 Exomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 49 transversion G C G>C 0.992 3.757 A Ala GCT 0.263 P Pro CCT 0.283 313 11 9 Frog -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 112.98 I.62 Tolerated 0.18 III.41 bad 5.864E-3 0.2786 255 PASS . . . . . . . . . . . . . VAT1:NM_006373:exon5:c.G937C:p.A313P . . 0.6615385 . . @ 43 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.264 . @ . . . . . 1 0.147 . . 65.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.2244 0.023 -0.224 c . . . . . 7.893e-06 . . . 0 1.108e-05 0 0 0 2.389e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.421 . . exonic exonic exonic . . 0.849 @ . . . 0.58 0.39 182 ENSG00000108828 VAT1 VAT1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.228 0.009 . . 37 . 0.271 . . 0.131 . . . 0.090 0.548 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.184 . . 0.208 . . . . . . 1 0.010 . . . . . 0.955 . 0.709 . HET 1 rs375005390 . . . . . . . . . . . . 19.5989 0.0 . 5.VI 5.VI . 0.730000 . . . . 0.000077 . 0.644 . . 5.VI 0 8.136e-06 0 0 0 0 1.796e-05 0 0 . . . . . . . . . . 0.854 . 2.639 2.639000 . . 0.730000 . . 1.0E-255 1.000 0.715 . 0.490 0.997 . 0.622 . 0.490 2.639 0.871 0.0001 . . rs375005390 rs375005390 1 1538 10 1/0 0,255,255 +rs12944458 17 41180772 C G - RND2 18315 Rho family GTPase 2 NM_005440.4 1 4152 684 NP_005431.1 P52198 substitution 3'UTR GRCh37 41180772 41180772 Chr17(GRCh37):g.41180772C>G *75 *75 NM_005440.4:c.*75C>G p.? p.? 5 601555 324 3' 93.0163 XII.73 0.98441 13.6303 93.0163 XII.73 0.98441 13.6303 0 rs12944458 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.002752 0.000344 0.002392 0.003333 0.000000 0.000000 0.004948 0.001145 0.001022 0.004948 85 3 2 1 0 0 74 4 1 30892 8716 836 300 1614 0 14956 3492 978 0.011765 0.000000 0.000000 0.000000 0.000000 0.000000 0.013514 0.000000 0.000000 1 0 0 0 0 0 1 0 0 55 1 2 1 0 0 46 4 1 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transversion C G C>G 0.583 0.044 255 PASS . . . . . . . . . . . . . . . . 0.4871795 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . UTR_3_PRIME(MODIFIER||||RND2|mRNA|CODING|NM_005440|NM_005440.ex.5) . . . . . . . 0.4544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.3423 . . . 0.54 0.77 182 ENSG00000108830 RND2 RND2 . uc002icn.3:c.*75C>G NM_005440:c.*75C>G . . . 120 0.00184684 64976 118 0.00196713 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12944458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0028 0.0024 0.0033 0 0.0011 0.0049 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs1056067 (chr17:43590582 A/G) 17 43590582 A G Not on a known gene +. (chr17:43591830 G/A) 17 43591830 G A Not on a known gene +. (chr17:43595823 G/A) 17 43595823 G A Not on a known gene +rs201412437 (chr17:43625081 A/G) 17 43625081 A G Not on a known gene +rs3893632 (chr17:43626315 G/A) 17 43626315 G A Not on a known gene +rs200849412 (chr17:43626397 G/C) 17 43626397 G C Not on a known gene +rs2461077 (chr17:43626572 A/G) 17 43626572 A G Not on a known gene +rs3894937 (chr17:43626739 G/A) 17 43626739 G A Not on a known gene +rs201044491 (chr17:43626768 G/C) 17 43626768 G C Not on a known gene +rs192899097 17 43906533 G A - CRHR1 2357 Corticotropin releasing hormone receptor 1 NM_001145146.1 1 2664 1335 NP_001138618.1 P34998 substitution intron GRCh37 43906533 43906533 Chr17(GRCh37):g.43906533G>A 328-48 328-48 NM_001145146.1:c.328-48G>A p.? p.? 5 4 122561 -48 3' 84.376 9.90175 0.952206 7.65154 84.376 9.90175 0.952206 7.46936 0 rs192899097 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000483 0.000093 0.000032 0.000000 0.000000 0.000144 0.000922 0.000261 0.000840 0.000922 119 2 1 0 0 4 101 6 5 246228 21440 31612 9474 17460 27700 109558 23030 5954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 2 1 0 0 4 101 6 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8481 4262 12743 9 0 9 0.00106007 0 0.000705772 0.00106007 0 0.000705772 41 transition G A G>A 0.024 1.739 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.3478261 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . 0.0007 0.0011 . 0.0007 0.0011 . -0.0655 . . . . . . . . 4.450e-04 . . . 0.0001 0.0004 0 0 0 0.0009 0 0.0002 0.0002 0.0004 0 0 0 0.0007 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.3 0.36 182 ENSG00000120088 CRHR1 . . . . . . . 15 0.000230854 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000706 . . . . . 0.0002 0.0005 3.249e-05 0 0 0.0002 0.0009 0.0006 0.0001 0 0.0006 0 0 0 0.0009 0.0010 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs192899097 rs192899097 1 1538 10 1/0 0,250,255 +rs192899097 17 43906533 G A - LINC02210-CRHR1 51483 LINC02210-CRHR1 readthrough NM_001303016.1 1 2522 858 NP_001289945.1 substitution intron GRCh37 43906533 43906533 Chr17(GRCh37):g.43906533G>A 25-48 25-48 NM_001303016.1:c.25-48G>A p.? p.? 6 5 -48 3' 84.376 9.90175 0.952206 7.65154 84.376 9.90175 0.952206 7.46936 0 rs192899097 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000483 0.000093 0.000032 0.000000 0.000000 0.000144 0.000922 0.000261 0.000840 0.000922 119 2 1 0 0 4 101 6 5 246228 21440 31612 9474 17460 27700 109558 23030 5954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 2 1 0 0 4 101 6 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8481 4262 12743 9 0 9 0.00106007 0 0.000705772 0.00106007 0 0.000705772 41 transition G A G>A 0.024 1.739 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.3478261 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . . . 0.0007 0.0011 . 0.0007 0.0011 . -0.0655 . . . . . . . . 4.450e-04 . . . 0.0001 0.0004 0 0 0 0.0009 0 0.0002 0.0002 0.0004 0 0 0 0.0007 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.3 0.36 182 ENSG00000120088 CRHR1 . . . . . . . 15 0.000230854 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000706 . . . . . 0.0002 0.0005 3.249e-05 0 0 0.0002 0.0009 0.0006 0.0001 0 0.0006 0 0 0 0.0009 0.0010 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs192899097 rs192899097 1 1538 10 1/0 0,250,255 +rs62073179 17 44372999 C T - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44372999 44372999 Chr17(GRCh37):g.44372999C>T *43867 *43867 NM_001039083.4:c.*43867G>A p.? p.? 4 44142 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Acceptor Strongly Activated 44372980 1.86265 0.002787 71.8582 2.11644 0.003196 71.8582 rs62073179 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5406 4086 548 58 308 30 266 22 88 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4590905|COSM4590905|COSM4590905 Upper aerodigestive tract|Thyroid|Haematopoietic and lymphoid tissue 0.010450|0.001339|0.000567 1244|747|3530 transition G A G>A 0.000 -0.037 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C500T:p.T167I . . 1.0 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.068 . . 25.0 . . . . . . . . . . -1.2821 -1.350 -1.282 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.123 @ . . . 0.3 0.29 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.118 0.005 . . 37 . 0.327 . . 0.180 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.112 . . 0.040 . . . . . . 2 0.129 . . . . . 0.051 . 0.052 . HOM 0.01 rs62073179 . . . . . . . . . . . . II.31 . . 2.I -0.258 . 0.560000 A6NMS7 . . . . . 0.030 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 0 0 . . 0.428 . 0.010 0.010000 . . 0.560000 . . 1.0E-111 0.000 0.063 . 0.043 0.006 . 0.069 . 0.086 0.010 -0.316 . rs2461355 rs2461355 rs2461355 rs201781690 1 1538 255 1.I 0,0,255 +rs62073179 17 44372999 C T - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44372999 44372999 Chr17(GRCh37):g.44372999C>T 500 500 NM_014834.4:c.500C>T p.Thr167Ile p.Thr167Ile 1 616555 -2110 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 rs62073179 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5406 4086 548 58 308 30 266 22 88 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4590905|COSM4590905|COSM4590905 Upper aerodigestive tract|Thyroid|Haematopoietic and lymphoid tissue 0.010450|0.001339|0.000567 1244|747|3530 transition C T C>T 0.000 -0.037 T Thr ACA 0.280 I Ile ATA 0.163 167 9 3 Cow -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 353.86 0.00 Tolerated 0.11 IV.32 unknown 0.0 0.0 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C500T:p.T167I . . 1.0 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.068 . . 25.0 . . . . . . . . . . -1.2821 -1.350 -1.282 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.123 @ . . . 0.3 0.29 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.118 0.005 . . 37 . 0.327 . . 0.180 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.112 . . 0.040 . . . . . . 2 0.129 . . . . . 0.051 . 0.052 . HOM 0.01 rs62073179 . . . . . . . . . . . . II.31 . . 2.I -0.258 . 0.560000 A6NMS7 . . . . . 0.030 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 0 0 . . 0.428 . 0.010 0.010000 . . 0.560000 . . 1.0E-111 0.000 0.063 . 0.043 0.006 . 0.069 . 0.086 0.010 -0.316 . rs2461355 rs2461355 rs2461355 rs201781690 1 1538 255 1.I 0,0,255 +. 17 44373343 G A - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373343 44373343 Chr17(GRCh37):g.44373343G>A *43523 *43523 NM_001039083.4:c.*43523C>T p.? p.? 4 43798 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM6387789 Thyroid 0.002677 747 transition C T C>T 0.000 -0.279 187 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.G844A:p.V282I . . 0.12903225 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.305 . . 62.0 . . . . . . . . . . -0.8926 -1.090 -0.893 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.589 . . exonic exonic exonic . . 0.082 @ . . . 0.33 0.26 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.081 0.004 . . 37 . 0.414 . . 0.295 . . . 0.446 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.386 . . 0.432 . . . . . . 2 0.160 . . . . . 0.012 . 0.020 . LowAF 0.18 . . . . . . . . . . . . . 0.886 . . II.19 -1.49 . 0.300000 A6NMS7 . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.269 -0.269000 . . 0.300000 . . 1.0E-187 0.000 0.063 . 0.062 0.001 . 0.070 . 0.291 -0.269 0.373 . rs3744455 rs3744455 rs3744455 rs3744455 1 1538 10 1/0 0,249,255 +. 17 44373343 G A - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373343 44373343 Chr17(GRCh37):g.44373343G>A 844 844 NM_014834.4:c.844G>A p.Val282Ile p.Val282Ile 1 616555 -1766 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Strongly Activated 44373356 V.42 0.339518 7.61702 0.301648 81.4049 COSM6387789 Thyroid 0.002677 747 transition G A G>A 0.000 -0.279 V Val GTT 0.178 I Ile ATT 0.356 282 9 5 Elephant 3 3 4 0 0 5.IX 5.II 84 111 29 C0 266.51 0.00 Tolerated 0.68 III.36 good 7.803E-1 0.4773 187 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.G844A:p.V282I . . 0.12903225 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.305 . . 62.0 . . . . . . . . . . -0.8926 -1.090 -0.893 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.589 . . exonic exonic exonic . . 0.082 @ . . . 0.33 0.26 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.081 0.004 . . 37 . 0.414 . . 0.295 . . . 0.446 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.386 . . 0.432 . . . . . . 2 0.160 . . . . . 0.012 . 0.020 . LowAF 0.18 . . . . . . . . . . . . . 0.886 . . II.19 -1.49 . 0.300000 A6NMS7 . . . . . 0.022 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.269 -0.269000 . . 0.300000 . . 1.0E-187 0.000 0.063 . 0.062 0.001 . 0.070 . 0.291 -0.269 0.373 . rs3744455 rs3744455 rs3744455 rs3744455 1 1538 10 1/0 0,249,255 +rs62066514 17 44373433 C G - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373433 44373433 Chr17(GRCh37):g.44373433C>G *43433 *43433 NM_001039083.4:c.*43433G>C p.? p.? 4 43708 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 rs62066514 yes no Frequency 1 0.000000 0 COSM328398|COSM328398 Thyroid|Pancreas 0.002677|0.000576 747|1736 transversion G C G>C 0.000 -0.117 208 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C934G:p.P312A . . 0.18032786 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.025 . . 61.0 . . . . . . . . . . -1.1391 -1.229 -1.139 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.623 . . exonic exonic exonic . . 0.114 @ . . . 0.35 0.31 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.227 0.009 . . 37 . 0.446 . . 0.366 . . . 0.540 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.161 . . . . . 0.262 . 0.234 . HET 0.02 rs62066514 . . . . . . ID\x3dCOSM328398\x3bOCCURENCE\x3d1(pancreas) . . . . . VII.05 . . I.97 -0.475 . 0.040000 A6NMS7 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.037 -0.037000 . . 0.040000 . . 9.999999999999999E-209 0.000 0.063 . 0.114 0.008 . 0.048 . 0.278 -0.037 0.493 . rs62066514 rs62066514 rs62066514 rs62066514 1 1538 10 1/0 0,255,255 +rs62066514 17 44373433 C G - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373433 44373433 Chr17(GRCh37):g.44373433C>G 934 934 NM_014834.4:c.934C>G p.Pro312Ala p.Pro312Ala 1 616555 -1676 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 rs62066514 yes no Frequency 1 0.000000 0 COSM328398|COSM328398 Thyroid|Pancreas 0.002677|0.000576 747|1736 transversion C G C>G 0.000 -0.117 P Pro CCT 0.283 A Ala GCT 0.263 312 9 6 Elephant -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 70.56 0.00 Tolerated 0.91 III.35 good 4.694E-1 0.161 208 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C934G:p.P312A . . 0.18032786 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.025 . . 61.0 . . . . . . . . . . -1.1391 -1.229 -1.139 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.623 . . exonic exonic exonic . . 0.114 @ . . . 0.35 0.31 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.227 0.009 . . 37 . 0.446 . . 0.366 . . . 0.540 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.161 . . . . . 0.262 . 0.234 . HET 0.02 rs62066514 . . . . . . ID\x3dCOSM328398\x3bOCCURENCE\x3d1(pancreas) . . . . . VII.05 . . I.97 -0.475 . 0.040000 A6NMS7 . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.037 -0.037000 . . 0.040000 . . 9.999999999999999E-209 0.000 0.063 . 0.114 0.008 . 0.048 . 0.278 -0.037 0.493 . rs62066514 rs62066514 rs62066514 rs62066514 1 1538 10 1/0 0,255,255 +. 17 44373462 C T - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373462 44373462 Chr17(GRCh37):g.44373462C>T *43404 *43404 NM_001039083.4:c.*43404G>A p.? p.? 4 43679 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328399|COSM328399 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transition G A G>A 0.024 0.125 227 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C963T:p.A321A . . 0.23529412 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.2292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.3 182 ENSG00000176681 LRRC37A LRRC37A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM328399\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs3894937 rs3894937 rs3894937 rs3894937 1 1538 10 1/0 0,255,255 +. 17 44373462 C T - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution synonymous exon GRCh37 44373462 44373462 Chr17(GRCh37):g.44373462C>T 963 963 NM_014834.4:c.963C>T p.Ala321= p.Ala321Ala 1 616555 -1647 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM328399|COSM328399 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transition C T C>T 0.024 0.125 A Ala GCC 0.403 A Ala GCT 0.263 321 227 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C963T:p.A321A . . 0.23529412 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.2292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.3 182 ENSG00000176681 LRRC37A LRRC37A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM328399\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs3894937 rs3894937 rs3894937 rs3894937 1 1538 10 1/0 0,255,255 +rs200361205 17 44373716 C A - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373716 44373716 Chr17(GRCh37):g.44373716C>A *43150 *43150 NM_001039083.4:c.*43150G>T p.? p.? 4 43425 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Donor Strongly Activated 44373722 0.028758 65.3785 1.19806 0.301898 70.3973 rs200361205 no no 0 0.000000 0 transversion G T G>T 0.000 -2.297 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1217A:p.A406D . . 0.4 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.054 . . 15.0 . . . . . . . . . . -1.8480 -1.894 -1.848 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.585 . . exonic exonic exonic . . 0.043 @ . . . 0.33 0.3 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.162 . . 0.076 . . . 0.002 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.154 . . 0.063 . . . . . . 2 0.044 . . . . . 0.014 . 0.208 . HET 0.1 . . . . . . . . . . . . . 1.0026 . . I.79 -3.58 . 0.660000 A6NMS7 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -2.310 -2.310000 . . 0.660000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.016 . 0.036 -2.310 -0.872 . rs17857225 rs17857225 rs17857225 rs17857225 1 1538 10 1/0 0,255,255 +rs200361205 17 44373716 C A - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373716 44373716 Chr17(GRCh37):g.44373716C>A 1217 1217 NM_014834.4:c.1217C>A p.Ala406Asp p.Ala406Asp 1 616555 -1393 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Strongly Activated 44373716 5.13748 0.01559 67.6119 6.37984 0.073574 69.4595 rs200361205 no no 0 0.000000 0 transversion C A C>A 0.000 -2.297 A Ala GCT 0.263 D Asp GAT 0.461 406 9 1 -2 -2 -3 0 I.38 8.I 13 31 54 126 C0 210.88 0.00 Tolerated 0.84 III.35 good 7.982E-1 0.586 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1217A:p.A406D . . 0.4 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.054 . . 15.0 . . . . . . . . . . -1.8480 -1.894 -1.848 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.585 . . exonic exonic exonic . . 0.043 @ . . . 0.33 0.3 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.001 0.085 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.162 . . 0.076 . . . 0.002 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.154 . . 0.063 . . . . . . 2 0.044 . . . . . 0.014 . 0.208 . HET 0.1 . . . . . . . . . . . . . 1.0026 . . I.79 -3.58 . 0.660000 A6NMS7 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -2.310 -2.310000 . . 0.660000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.016 . 0.036 -2.310 -0.872 . rs17857225 rs17857225 rs17857225 rs17857225 1 1538 10 1/0 0,255,255 +. 17 44373804 C G - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373804 44373804 Chr17(GRCh37):g.44373804C>G *43062 *43062 NM_001039083.4:c.*43062G>C p.? p.? 4 43337 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Acceptor Strongly Activated 44373795 0.004769 64.8245 1.16712 0.0256 67.5654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328400|COSM328400 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transversion G C G>C 0.000 -2.297 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1305G:p.H435Q . . 0.45714286 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.052 . . 35.0 . . . . . . . . . . -1.7390 -1.841 -1.739 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.595 . . exonic exonic exonic . . 0.045 @ . . . 0.33 0.34 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.257 0.010 . . 37 . 0.245 . . 0.115 . . . 0.042 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.098 . . . . . 0.000 . 0.002 . HET 0.54 . . . . . . . ID\x3dCOSM328400\x3bOCCURENCE\x3d1(pancreas) . . . . . 0.0878 . . I.71 -3.41 . 0.590000 A6NMS7 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.388 -2.388000 . . 0.590000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.010 . 0.001 -2.388 -0.744 . rs3868164 rs3868164 rs3868164 rs3868164 1 1538 10 1/0 0,255,255 +. 17 44373804 C G - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373804 44373804 Chr17(GRCh37):g.44373804C>G 1305 1305 NM_014834.4:c.1305C>G p.His435Gln p.His435Gln 1 616555 -1305 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328400|COSM328400 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transversion C G C>G 0.000 -2.297 H His CAC 0.587 Q Gln CAG 0.744 435 9 2 Chimp 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 C0 251.61 0.00 Tolerated 0.69 III.36 good 9.343E-1 0.6162 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1305G:p.H435Q . . 0.45714286 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.052 . . 35.0 . . . . . . . . . . -1.7390 -1.841 -1.739 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.595 . . exonic exonic exonic . . 0.045 @ . . . 0.33 0.34 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.257 0.010 . . 37 . 0.245 . . 0.115 . . . 0.042 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 2 0.098 . . . . . 0.000 . 0.002 . HET 0.54 . . . . . . . ID\x3dCOSM328400\x3bOCCURENCE\x3d1(pancreas) . . . . . 0.0878 . . I.71 -3.41 . 0.590000 A6NMS7 . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.388 -2.388000 . . 0.590000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.010 . 0.001 -2.388 -0.744 . rs3868164 rs3868164 rs3868164 rs3868164 1 1538 10 1/0 0,255,255 +. 17 44373844 G A - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373844 44373844 Chr17(GRCh37):g.44373844G>A *43022 *43022 NM_001039083.4:c.*43022C>T p.? p.? 4 43297 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328401|COSM328401|COSM328401 Pancreas|Haematopoietic and lymphoid tissue|Central nervous system 0.000576|0.000567|0.000420 1736|3530|2383 transition C T C>T 0.000 0.851 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.G1345A:p.V449I . . 0.46153846 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.408 . . 39.0 . . . . . . . . . . -0.8471 -1.022 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.181 @ . . . 0.39 0.32 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.147 0.006 . . 37 . 0.456 . . 0.338 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.414 . . 0.214 . . . . . . 2 0.138 . . . . . 0.116 . 0.051 . HET 0.15 . . . . . . . . . . . . . IV.82 . . I.88 0.866 . 0.170000 A6NMS7 . . . . . 0.043 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.424 0.424000 . . 0.170000 . . 1.0E-255 0.000 0.063 . 0.083 0.002 . 0.088 . 0.291 0.424 -0.045 . rs3893633 rs3893633 rs3893633 rs3893633 1 1538 10 1/0 0,255,255 +. 17 44373844 G A - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373844 44373844 Chr17(GRCh37):g.44373844G>A 1345 1345 NM_014834.4:c.1345G>A p.Val449Ile p.Val449Ile 1 616555 -1265 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328401|COSM328401|COSM328401 Pancreas|Haematopoietic and lymphoid tissue|Central nervous system 0.000576|0.000567|0.000420 1736|3530|2383 transition G A G>A 0.000 0.851 V Val GTA 0.114 I Ile ATA 0.163 449 9 4 Elephant 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.2 III.63 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.G1345A:p.V449I . . 0.46153846 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.408 . . 39.0 . . . . . . . . . . -0.8471 -1.022 -0.847 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.181 @ . . . 0.39 0.32 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.147 0.006 . . 37 . 0.456 . . 0.338 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.414 . . 0.214 . . . . . . 2 0.138 . . . . . 0.116 . 0.051 . HET 0.15 . . . . . . . . . . . . . IV.82 . . I.88 0.866 . 0.170000 A6NMS7 . . . . . 0.043 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 0.424 0.424000 . . 0.170000 . . 1.0E-255 0.000 0.063 . 0.083 0.002 . 0.088 . 0.291 0.424 -0.045 . rs3893633 rs3893633 rs3893633 rs3893633 1 1538 10 1/0 0,255,255 +. 17 44373886 C T - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44373886 44373886 Chr17(GRCh37):g.44373886C>T *42980 *42980 NM_001039083.4:c.*42980G>A p.? p.? 4 43255 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328402|COSM328402|COSM328402 Thyroid|Pancreas|Central nervous system 0.001339|0.000576|0.000420 747|1736|2383 transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1387T:p.P463S . . 0.43589744 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.114 . . 39.0 . . . . . . . . . . -0.7125 -1.030 -0.712 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.626 . . exonic exonic exonic . . 0.046 @ . . . 0.32 0.34 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.260 0.010 . . 37 . 0.603 . . 0.530 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.681 . . 0 0 0 0 0 0 . 0.574 . . 0.593 . . . . . . 2 0.078 . . . . . 0.101 . 0.045 . HET 0.68 . . . . . . . . . . . . . IV.21 . . I.68 -3.37 . 0.120000 A6NMS7 . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.510 -0.510000 . . 0.120000 . . 1.0E-255 0.000 0.063 . 0.074 0.001 . 0.062 . 0.093 -0.510 -0.058 . rs3893632 rs3893632 rs3893632 rs3893632 1 1538 10 1/0 0,255,255 +. 17 44373886 C T - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44373886 44373886 Chr17(GRCh37):g.44373886C>T 1387 1387 NM_014834.4:c.1387C>T p.Pro463Ser p.Pro463Ser 1 616555 -1223 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Weakly Activated 44373890 5.25858 0.759476 84.4675 6.57071 0.786252 84.4675 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes COSM328402|COSM328402|COSM328402 Thyroid|Pancreas|Central nervous system 0.001339|0.000576|0.000420 747|1736|2383 transition C T C>T 0.000 -0.360 P Pro CCA 0.274 S Ser TCA 0.148 463 9 6 Elephant -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 244.82 0.00 Tolerated 0.71 III.36 good 5.116E-1 0.2878 255 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon1:c.C1387T:p.P463S . . 0.43589744 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.157 . @ . . . . . 1 0.114 . . 39.0 . . . . . . . . . . -0.7125 -1.030 -0.712 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.626 . . exonic exonic exonic . . 0.046 @ . . . 0.32 0.34 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.260 0.010 . . 37 . 0.603 . . 0.530 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.681 . . 0 0 0 0 0 0 . 0.574 . . 0.593 . . . . . . 2 0.078 . . . . . 0.101 . 0.045 . HET 0.68 . . . . . . . . . . . . . IV.21 . . I.68 -3.37 . 0.120000 A6NMS7 . . . . . 0.031 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.510 -0.510000 . . 0.120000 . . 1.0E-255 0.000 0.063 . 0.074 0.001 . 0.062 . 0.093 -0.510 -0.058 . rs3893632 rs3893632 rs3893632 rs3893632 1 1538 10 1/0 0,255,255 +. 17 44375120 T C - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44375120 44375120 Chr17(GRCh37):g.44375120T>C *41746 *41746 NM_001039083.4:c.*41746A>G p.? p.? 4 42021 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Donor Strongly Activated 44375120 0.081417 70.8022 5.88335 0.834908 82.9382 0.001748 0.004386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004386 2 2 0 0 0 0 0 0 0 1144 456 38 10 2 0 396 216 26 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 125 Genomes transition A G A>G 0.000 -0.198 211 PASS . . . . . . . . . . . . . . . . 0.1891892 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.3161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.3 182 . LRRC37A LRRC37A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0017 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs2531767 rs2531767 rs2531767 rs2531767 1 1538 10 1/0 0,230,255 +. 17 44375120 T C - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution intron GRCh37 44375120 44375120 Chr17(GRCh37):g.44375120T>C 2609+12 2609+12 NM_014834.4:c.2609+12T>C p.? p.? 1 1 616555 12 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 5.07554 0 0.001748 0.004386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.004386 2 2 0 0 0 0 0 0 0 1144 456 38 10 2 0 396 216 26 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 125 Genomes transition T C T>C 0.000 -0.198 211 PASS . . . . . . . . . . . . . . . . 0.1891892 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.3161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.41 0.3 182 . LRRC37A LRRC37A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0017 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs2531767 rs2531767 rs2531767 rs2531767 1 1538 10 1/0 0,230,255 +rs748643542 17 44408066 C A - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44408066 44408066 Chr17(GRCh37):g.44408066C>A *226656 *226656 NM_001113738.1:c.*226656G>T p.? p.? 4 226931 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 rs748643542 yes no Frequency 1 C 0.000000 0 0.000408 0.000319 0.000501 0.000000 0.000539 0.001363 0.000000 0.000000 0.002242 0.001363 33 3 8 0 6 12 0 0 4 80808 9390 15974 2788 11132 8802 25668 5270 1784 0.000272 0.000213 0.000250 0.000000 0.000359 0.000909 0.000000 0.000000 0.002242 11 1 2 0 2 4 0 0 2 11 1 4 0 2 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.953 0.528 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon9:c.C3423A:p.F1141L . . 1.0 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.397 . @ . . . . . 1 0.367 . . 43.0 . . . . . . . . . . -0.4510 -0.504 -0.451 c . . . . . 2.864e-04 . . . 0 0.0015 0.0013 0.0010 0 0 0 0.0053 0 0.0018 0.0013 0.0029 0 0 0 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.212 @ . . . 0.21 0.18 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.439 0.021 . . 37 . 0.366 . . 0.157 . . . 0.543 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.326 . . 0.324 . . . . . . 3 0.289 . . . . . 0.140 . 0.551 . HOM 0.06 rs748643542 . . . . . . . . . . . . 5.1079 . . II.38 I.39 . 0.170000 . . . . . . 0.287 . . . 0.0003 0.0004 0.0005 0 0.0006 0 0 0.0023 0.0014 0.0005 0.0003 0 0 0 0 0 0 . . 0.558 . 0.558 0.558000 . . 0.170000 . . 1.0E-111 0.067 0.218 . 0.200 0.643 . 0.160 . 0.102 0.558 0.018 . rs1863115 rs1863115 rs1863115 rs1863115 1 1538 255 1.I 0,0,255 +rs748643542 17 44408066 C A - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44408066 44408066 Chr17(GRCh37):g.44408066C>A *8800 *8800 NM_001039083.4:c.*8800G>T p.? p.? 4 9075 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 rs748643542 yes no Frequency 1 C 0.000000 0 0.000408 0.000319 0.000501 0.000000 0.000539 0.001363 0.000000 0.000000 0.002242 0.001363 33 3 8 0 6 12 0 0 4 80808 9390 15974 2788 11132 8802 25668 5270 1784 0.000272 0.000213 0.000250 0.000000 0.000359 0.000909 0.000000 0.000000 0.002242 11 1 2 0 2 4 0 0 2 11 1 4 0 2 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.953 0.528 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon9:c.C3423A:p.F1141L . . 1.0 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.397 . @ . . . . . 1 0.367 . . 43.0 . . . . . . . . . . -0.4510 -0.504 -0.451 c . . . . . 2.864e-04 . . . 0 0.0015 0.0013 0.0010 0 0 0 0.0053 0 0.0018 0.0013 0.0029 0 0 0 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.212 @ . . . 0.21 0.18 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.439 0.021 . . 37 . 0.366 . . 0.157 . . . 0.543 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.326 . . 0.324 . . . . . . 3 0.289 . . . . . 0.140 . 0.551 . HOM 0.06 rs748643542 . . . . . . . . . . . . 5.1079 . . II.38 I.39 . 0.170000 . . . . . . 0.287 . . . 0.0003 0.0004 0.0005 0 0.0006 0 0 0.0023 0.0014 0.0005 0.0003 0 0 0 0 0 0 . . 0.558 . 0.558 0.558000 . . 0.170000 . . 1.0E-111 0.067 0.218 . 0.200 0.643 . 0.160 . 0.102 0.558 0.018 . rs1863115 rs1863115 rs1863115 rs1863115 1 1538 255 1.I 0,0,255 +rs748643542 17 44408066 C A - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44408066 44408066 Chr17(GRCh37):g.44408066C>A 3423 3423 NM_014834.4:c.3423C>A p.Phe1141Leu p.Phe1141Leu 9 616555 251 3' 91.9858 8.06439 0.983737 8.01324 91.9858 8.06439 0.983737 8.01324 0 rs748643542 yes no Frequency 1 C 0.000000 0 0.000408 0.000319 0.000501 0.000000 0.000539 0.001363 0.000000 0.000000 0.002242 0.001363 33 3 8 0 6 12 0 0 4 80808 9390 15974 2788 11132 8802 25668 5270 1784 0.000272 0.000213 0.000250 0.000000 0.000359 0.000909 0.000000 0.000000 0.002242 11 1 2 0 2 4 0 0 2 11 1 4 0 2 4 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.953 0.528 F Phe TTC 0.546 L Leu TTA 0.073 1141 9 6 Cow 1 0 0 0 0 5.II 4.IX 132 111 22 C0 255.29 0.00 Tolerated 0.49 III.36 good 5.608E-1 0.1815 111 PASS . . . . . . . . . . . . . LRRC37A:NM_014834:exon9:c.C3423A:p.F1141L . . 1.0 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.397 . @ . . . . . 1 0.367 . . 43.0 . . . . . . . . . . -0.4510 -0.504 -0.451 c . . . . . 2.864e-04 . . . 0 0.0015 0.0013 0.0010 0 0 0 0.0053 0 0.0018 0.0013 0.0029 0 0 0 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.212 @ . . . 0.21 0.18 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.439 0.021 . . 37 . 0.366 . . 0.157 . . . 0.543 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.326 . . 0.324 . . . . . . 3 0.289 . . . . . 0.140 . 0.551 . HOM 0.06 rs748643542 . . . . . . . . . . . . 5.1079 . . II.38 I.39 . 0.170000 . . . . . . 0.287 . . . 0.0003 0.0004 0.0005 0 0.0006 0 0 0.0023 0.0014 0.0005 0.0003 0 0 0 0 0 0 . . 0.558 . 0.558 0.558000 . . 0.170000 . . 1.0E-111 0.067 0.218 . 0.200 0.643 . 0.160 . 0.102 0.558 0.018 . rs1863115 rs1863115 rs1863115 rs1863115 1 1538 255 1.I 0,0,255 +rs273532 17 44408776 T C - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44408776 44408776 Chr17(GRCh37):g.44408776T>C *225946 *225946 NM_001113738.1:c.*225946A>G p.? p.? 4 226221 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 New Acceptor Site 44408775 2.55337 0.000232 69.0365 rs273532 yes no Frequency/1000G 2 0.000000 0 0.001222 0.000674 0.002479 0.000787 0.001675 0.001769 0.000669 0.001111 0.001019 0.002479 169 12 54 3 26 21 33 17 3 138332 17804 21784 3812 15520 11870 49300 15298 2944 0.000578 0.000112 0.001194 0.000525 0.000515 0.001179 0.000325 0.000784 0.000000 40 1 13 1 4 7 8 6 0 89 10 28 1 18 7 17 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3958454|COSM3958454 Upper aerodigestive tract|Lung 0.004823|0.000419 1244|2388 transition A G A>G 0.000 -1.167 111 PASS 0.0041 0.03 0.05 0.01 0.05 . . . . . . . . LRRC37A:NM_014834:exon9:c.T4133C:p.L1378P . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.079 . . 13.0 . . . . . . . . . . -1.8854 -1.896 -1.885 c . . . . . 3.425e-03 . . . 0.0007 0.0013 0.0022 0.0013 0 0.0009 0 0.0021 0.0007 0.0010 0.0021 0.0018 0 0.0003 0 0.0021 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.560 . . exonic exonic exonic . . 0.054 @ . ENSG00000264070.1 Esophagus_Muscularis 0.16 0.19 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.169 0.006 . . 37 . 0.023 . . 0.135 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.175 . . . . . 0.273 . 0.043 . HOM 0.7 rs273532 . . . . . . . 0.028846153846153848 0.0040650406504065045 0.052486187845303865 0.008741258741258742 0.048812664907651716 VII.92 9.98E-4 . 2.I -2.82 . 0.950000 . . . . . . 0.004 . . . 0.0005 0.0012 0.0024 0.0008 0.0018 0.0012 0.0005 0.0008 0.0018 0.0010 0.0015 0.0043 0 0 0.0005 0.0024 0.0023 . . 0.133 . -1.201 -1.201000 . . 0.950000 . . 1.0E-111 0.000 0.063 . 0.016 0.003 . 0.034 . 0.024 -1.201 0.033 0.05 rs273532 rs273532 rs273532 rs191224928 1 1538 255 1.I 0,0,255 +rs273532 17 44408776 T C - ARL17B 32387 ADP ribosylation factor like GTPase 17B NM_001039083.4 -1 766 534 NP_001034172.3 Q8IVW1 substitution downstream GRCh37 44408776 44408776 Chr17(GRCh37):g.44408776T>C *8090 *8090 NM_001039083.4:c.*8090A>G p.? p.? 4 8365 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 New Acceptor Site 44408775 2.55337 0.000232 69.0365 rs273532 yes no Frequency/1000G 2 0.000000 0 0.001222 0.000674 0.002479 0.000787 0.001675 0.001769 0.000669 0.001111 0.001019 0.002479 169 12 54 3 26 21 33 17 3 138332 17804 21784 3812 15520 11870 49300 15298 2944 0.000578 0.000112 0.001194 0.000525 0.000515 0.001179 0.000325 0.000784 0.000000 40 1 13 1 4 7 8 6 0 89 10 28 1 18 7 17 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3958454|COSM3958454 Upper aerodigestive tract|Lung 0.004823|0.000419 1244|2388 transition A G A>G 0.000 -1.167 111 PASS 0.0041 0.03 0.05 0.01 0.05 . . . . . . . . LRRC37A:NM_014834:exon9:c.T4133C:p.L1378P . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.079 . . 13.0 . . . . . . . . . . -1.8854 -1.896 -1.885 c . . . . . 3.425e-03 . . . 0.0007 0.0013 0.0022 0.0013 0 0.0009 0 0.0021 0.0007 0.0010 0.0021 0.0018 0 0.0003 0 0.0021 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.560 . . exonic exonic exonic . . 0.054 @ . ENSG00000264070.1 Esophagus_Muscularis 0.16 0.19 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.169 0.006 . . 37 . 0.023 . . 0.135 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.175 . . . . . 0.273 . 0.043 . HOM 0.7 rs273532 . . . . . . . 0.028846153846153848 0.0040650406504065045 0.052486187845303865 0.008741258741258742 0.048812664907651716 VII.92 9.98E-4 . 2.I -2.82 . 0.950000 . . . . . . 0.004 . . . 0.0005 0.0012 0.0024 0.0008 0.0018 0.0012 0.0005 0.0008 0.0018 0.0010 0.0015 0.0043 0 0 0.0005 0.0024 0.0023 . . 0.133 . -1.201 -1.201000 . . 0.950000 . . 1.0E-111 0.000 0.063 . 0.016 0.003 . 0.034 . 0.024 -1.201 0.033 0.05 rs273532 rs273532 rs273532 rs191224928 1 1538 255 1.I 0,0,255 +rs273532 17 44408776 T C - LRRC37A 29069 Leucine rich repeat containing 37A NM_014834.4 1 5177 5103 NP_055649.4 A6NMS7 substitution missense exon GRCh37 44408776 44408776 Chr17(GRCh37):g.44408776T>C 4133 4133 NM_014834.4:c.4133T>C p.Leu1378Pro p.Leu1378Pro 9 616555 -572 5' 87.5642 8.40856 0.983411 6.66939 87.5642 8.40856 0.983411 6.66939 0 rs273532 yes no Frequency/1000G 2 0.000000 0 0.001222 0.000674 0.002479 0.000787 0.001675 0.001769 0.000669 0.001111 0.001019 0.002479 169 12 54 3 26 21 33 17 3 138332 17804 21784 3812 15520 11870 49300 15298 2944 0.000578 0.000112 0.001194 0.000525 0.000515 0.001179 0.000325 0.000784 0.000000 40 1 13 1 4 7 8 6 0 89 10 28 1 18 7 17 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3958454|COSM3958454 Upper aerodigestive tract|Lung 0.004823|0.000419 1244|2388 transition T C T>C 0.000 -1.167 L Leu CTT 0.129 P Pro CCT 0.283 1378 9 4 Cow -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 250.69 0.00 Deleterious 0.05 III.36 good 8.416E-1 0.4459 111 PASS 0.0041 0.03 0.05 0.01 0.05 . . . . . . . . LRRC37A:NM_014834:exon9:c.T4133C:p.L1378P . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.042 . @ . . . . . 1 0.079 . . 13.0 . . . . . . . . . . -1.8854 -1.896 -1.885 c . . . . . 3.425e-03 . . . 0.0007 0.0013 0.0022 0.0013 0 0.0009 0 0.0021 0.0007 0.0010 0.0021 0.0018 0 0.0003 0 0.0021 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.560 . . exonic exonic exonic . . 0.054 @ . ENSG00000264070.1 Esophagus_Muscularis 0.16 0.19 182 ENSG00000176681 LRRC37A LRRC37A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.169 0.006 . . 37 . 0.023 . . 0.135 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.001 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.175 . . . . . 0.273 . 0.043 . HOM 0.7 rs273532 . . . . . . . 0.028846153846153848 0.0040650406504065045 0.052486187845303865 0.008741258741258742 0.048812664907651716 VII.92 9.98E-4 . 2.I -2.82 . 0.950000 . . . . . . 0.004 . . . 0.0005 0.0012 0.0024 0.0008 0.0018 0.0012 0.0005 0.0008 0.0018 0.0010 0.0015 0.0043 0 0 0.0005 0.0024 0.0023 . . 0.133 . -1.201 -1.201000 . . 0.950000 . . 1.0E-111 0.000 0.063 . 0.016 0.003 . 0.034 . 0.024 -1.201 0.033 0.05 rs273532 rs273532 rs273532 rs191224928 1 1538 255 1.I 0,0,255 +. 17 44590578 C T - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44590578 44590578 Chr17(GRCh37):g.44590578C>T *44144 *44144 NM_001113738.1:c.*44144G>A p.? p.? 4 44419 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Acceptor Strongly Activated 44590559 1.86265 0.002787 71.8582 2.11644 0.003196 71.8582 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42312 5596 7620 566 6582 2336 12054 6638 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 64 Exomes COSM6365189 Thyroid 0.002677 747 transition G A G>A 0.000 -0.198 111 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C500T:p.T167I . . 1.0 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.055 . . 10.0 . . . . . . . . . . -1.2597 -1.356 -1.260 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.099 @ . . . 0.33 0.29 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.153 0.006 . . 37 . 0.339 . . 0.156 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.124 . . . . . 0.040 . 0.074 . HOM 0.01 . . . . . . . . . . . . . II.47 . ENST00000333412 I.51 -0.925 . 0.260000 A6NM11 . . . . . 0.027 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.177 -0.177000 . . 0.260000 . . 1.0E-111 0.000 0.063 . 0.083 0.040 . 0.085 . 0.275 -0.177 0.330 . rs62073179 rs62073179 rs62073179 rs62073179 1 1538 255 1.I 0,0,255 +. 17 44590578 C T - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44590578 44590578 Chr17(GRCh37):g.44590578C>T 500 500 NM_001006607.2:c.500C>T p.Thr167Ile p.Thr167Ile 1 616556 -2110 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42312 5596 7620 566 6582 2336 12054 6638 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 64 Exomes COSM6365189 Thyroid 0.002677 747 transition C T C>T 0.000 -0.198 T Thr ACA 0.280 I Ile ATA 0.163 167 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 111 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C500T:p.T167I . . 1.0 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.055 . . 10.0 . . . . . . . . . . -1.2597 -1.356 -1.260 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.603 . . exonic exonic exonic . . 0.099 @ . . . 0.33 0.29 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.153 0.006 . . 37 . 0.339 . . 0.156 . . . 0.225 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.124 . . . . . 0.040 . 0.074 . HOM 0.01 . . . . . . . . . . . . . II.47 . ENST00000333412 I.51 -0.925 . 0.260000 A6NM11 . . . . . 0.027 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.246 . -0.177 -0.177000 . . 0.260000 . . 1.0E-111 0.000 0.063 . 0.083 0.040 . 0.085 . 0.275 -0.177 0.330 . rs62073179 rs62073179 rs62073179 rs62073179 1 1538 255 1.I 0,0,255 +. 17 44590922 G A - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44590922 44590922 Chr17(GRCh37):g.44590922G>A *43800 *43800 NM_001113738.1:c.*43800C>T p.? p.? 4 44075 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM5426740|COSM5426740 Thyroid|Haematopoietic and lymphoid tissue 0.002677|0.000283 747|3530 transition C T C>T 0.000 -0.682 225 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.G844A:p.V282I . . 0.23076923 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.105 . . 39.0 . . . . . . . . . . -1.2499 -1.382 -1.250 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.589 . . exonic exonic exonic . . 0.052 @ . . . 0.35 0.36 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.256 0.010 . . 37 . 0.359 . . 0.243 . . . 0.446 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.245 . . 0.256 . . . . . . 2 0.156 . . . . . 0.003 . 0.019 . HET 0.19 . . . . . . . . . . . . . 0.3243 . ENST00000333412 II.34 -2.94 . 0.290000 A6NM11 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.599 -0.599000 . . 0.290000 . . 1.0E-225 0.000 0.063 . 0.074 0.000 . 0.034 . 0.291 -0.599 -0.301 . rs3744455 rs3744455 rs3744455 rs3744455 1 1538 10 1/0 0,255,255 +. 17 44590922 G A - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44590922 44590922 Chr17(GRCh37):g.44590922G>A 844 844 NM_001006607.2:c.844G>A p.Val282Ile p.Val282Ile 1 616556 -1766 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Strongly Activated 44590935 V.42 0.339518 7.61702 0.301648 81.4049 COSM5426740|COSM5426740 Thyroid|Haematopoietic and lymphoid tissue 0.002677|0.000283 747|3530 transition G A G>A 0.000 -0.682 V Val GTT 0.178 I Ile ATT 0.356 282 3 3 4 0 0 5.IX 5.II 84 111 29 225 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.G844A:p.V282I . . 0.23076923 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.105 . . 39.0 . . . . . . . . . . -1.2499 -1.382 -1.250 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.589 . . exonic exonic exonic . . 0.052 @ . . . 0.35 0.36 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.256 0.010 . . 37 . 0.359 . . 0.243 . . . 0.446 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.172 . . 0 0 0 0 0 0 . 0.245 . . 0.256 . . . . . . 2 0.156 . . . . . 0.003 . 0.019 . HET 0.19 . . . . . . . . . . . . . 0.3243 . ENST00000333412 II.34 -2.94 . 0.290000 A6NM11 . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.599 -0.599000 . . 0.290000 . . 1.0E-225 0.000 0.063 . 0.074 0.000 . 0.034 . 0.291 -0.599 -0.301 . rs3744455 rs3744455 rs3744455 rs3744455 1 1538 10 1/0 0,255,255 +. 17 44591012 C G - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591012 44591012 Chr17(GRCh37):g.44591012C>G *43710 *43710 NM_001113738.1:c.*43710G>C p.? p.? 4 43985 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328404|COSM328404 Thyroid|Pancreas 0.005355|0.000576 747|1736 transversion G C G>C 0.000 -0.924 197 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C934G:p.P312A . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.027 . . 52.0 . . . . . . . . . . -1.2374 -1.355 -1.237 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.625 . . exonic exonic exonic . . 0.032 @ . . . 0.33 0.31 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.353 0.015 . . 37 . 0.426 . . 0.338 . . . 0.540 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.170 . . 0.149 . . . . . . 2 0.148 . . . . . 0.238 . 0.118 . HET 0.02 . . . . . . . ID\x3dCOSM328404\x3bOCCURENCE\x3d1(pancreas) . . . . . 7.0013 . ENST00000333412 II.28 -4.55 . 0.020000 A6NM11 . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.944 -0.944000 . . 0.020000 . . 1.0E-197 0.000 0.063 . 0.043 0.005 . 0.080 . 0.293 -0.944 -0.275 . rs62066514 rs62066514 rs62066514 rs62066514 1 1538 10 1/0 0,255,255 +. 17 44591012 C G - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44591012 44591012 Chr17(GRCh37):g.44591012C>G 934 934 NM_001006607.2:c.934C>G p.Pro312Ala p.Pro312Ala 1 616556 -1676 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM328404|COSM328404 Thyroid|Pancreas 0.005355|0.000576 747|1736 transversion C G C>G 0.000 -0.924 P Pro CCT 0.283 A Ala GCT 0.263 312 -1 -1 -1 0.39 0 8 8.I 32.5 31 27 197 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C934G:p.P312A . . 0.15384616 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.027 . . 52.0 . . . . . . . . . . -1.2374 -1.355 -1.237 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.625 . . exonic exonic exonic . . 0.032 @ . . . 0.33 0.31 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.353 0.015 . . 37 . 0.426 . . 0.338 . . . 0.540 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.755 . . 0 0 0 0 0 0 . 0.170 . . 0.149 . . . . . . 2 0.148 . . . . . 0.238 . 0.118 . HET 0.02 . . . . . . . ID\x3dCOSM328404\x3bOCCURENCE\x3d1(pancreas) . . . . . 7.0013 . ENST00000333412 II.28 -4.55 . 0.020000 A6NM11 . . . . . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.944 -0.944000 . . 0.020000 . . 1.0E-197 0.000 0.063 . 0.043 0.005 . 0.080 . 0.293 -0.944 -0.275 . rs62066514 rs62066514 rs62066514 rs62066514 1 1538 10 1/0 0,255,255 +. 17 44591041 C T - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591041 44591041 Chr17(GRCh37):g.44591041C>T *43681 *43681 NM_001113738.1:c.*43681G>A p.? p.? 4 43956 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328405 Pancreas 0.000576 1736 transition G A G>A 0.000 -0.440 217 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C963T:p.A321A . . 0.20833333 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.3009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.32 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM328405\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs3894937 rs3894937 rs3894937 rs3894937 1 1538 10 1/0 0,255,255 +. 17 44591041 C T - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution synonymous exon GRCh37 44591041 44591041 Chr17(GRCh37):g.44591041C>T 963 963 NM_001006607.2:c.963C>T p.Ala321= p.Ala321Ala 1 616556 -1647 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM328405 Pancreas 0.000576 1736 transition C T C>T 0.000 -0.440 A Ala GCC 0.403 A Ala GCT 0.263 321 217 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C963T:p.A321A . . 0.20833333 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.3009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.32 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . ID\x3dCOSM328405\x3bOCCURENCE\x3d1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . rs3894937 rs3894937 rs3894937 rs3894937 1 1538 10 1/0 0,255,255 +. 17 44591383 C G - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591383 44591383 Chr17(GRCh37):g.44591383C>G *43339 *43339 NM_001113738.1:c.*43339G>C p.? p.? 4 43614 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Acceptor Strongly Activated 44591374 0.004769 64.8245 1.16712 0.0256 67.5654 COSM4415842 Haematopoietic and lymphoid tissue 0.001133 3530 transversion G C G>C 0.000 -2.781 236 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C1305G:p.H435Q . . 0.26923078 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.072 . . 26.0 . . . . . . . . . . -1.7741 -1.874 -1.774 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.596 . . exonic exonic exonic . . 0.020 @ . . . 0.38 0.36 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.016 0.127 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.085 0.004 . . 37 . 0.238 . . 0.163 . . . 0.042 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.098 . . . . . 0.022 . 0.002 . HET 0.64 . . . . . . . . . . . . . I.79 . ENST00000333412 3.0 -6.01 . 0.630000 A6NM11 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.485 -2.485000 . . 0.630000 . . 1.0E-236 0.000 0.063 . 0.016 0.000 . 0.009 . 0.000 -2.485 -0.836 . rs3868164 rs3868164 rs3868164 rs3868164 1 1538 10 1/0 0,255,255 +. 17 44591383 C G - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44591383 44591383 Chr17(GRCh37):g.44591383C>G 1305 1305 NM_001006607.2:c.1305C>G p.His435Gln p.His435Gln 1 616556 -1305 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM4415842 Haematopoietic and lymphoid tissue 0.001133 3530 transversion C G C>G 0.000 -2.781 H His CAC 0.587 Q Gln CAG 0.744 435 1 0 1 0.58 0.89 10.IV 10.V 96 85 24 236 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C1305G:p.H435Q . . 0.26923078 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.072 . . 26.0 . . . . . . . . . . -1.7741 -1.874 -1.774 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.596 . . exonic exonic exonic . . 0.020 @ . . . 0.38 0.36 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.016 0.127 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.085 0.004 . . 37 . 0.238 . . 0.163 . . . 0.042 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 2 0.098 . . . . . 0.022 . 0.002 . HET 0.64 . . . . . . . . . . . . . I.79 . ENST00000333412 3.0 -6.01 . 0.630000 A6NM11 . . . . . 0.004 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -2.485 -2.485000 . . 0.630000 . . 1.0E-236 0.000 0.063 . 0.016 0.000 . 0.009 . 0.000 -2.485 -0.836 . rs3868164 rs3868164 rs3868164 rs3868164 1 1538 10 1/0 0,255,255 +. 17 44591423 G A - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591423 44591423 Chr17(GRCh37):g.44591423G>A *43299 *43299 NM_001113738.1:c.*43299C>T p.? p.? 4 43574 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328406|COSM328406 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transition C T C>T 0.000 0.528 243 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.G1345A:p.V449I . . 0.29166666 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.353 . . 24.0 . . . . . . . . . . -0.8272 -0.951 -0.827 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.210 @ . . . 0.38 0.38 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.256 0.010 . . 37 . 0.495 . . 0.420 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.318 . . 0.322 . . . . . . 2 0.137 . . . . . 0.190 . 0.039 . HET 0.13 . . . . . . . ID\x3dCOSM328406\x3bOCCURENCE\x3d1(pancreas) . . . . . 6.0762 . ENST00000333412 II.51 I.35 . 0.160000 A6NM11 . . . . . 0.044 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 1.508 1.508000 . . 0.160000 . . 1.0E-243 0.000 0.063 . 0.016 0.002 . 0.024 . 0.118 1.508 -0.062 . rs3893633 rs3893633 rs3893633 rs3893633 1 1538 10 1/0 0,255,255 +. 17 44591423 G A - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44591423 44591423 Chr17(GRCh37):g.44591423G>A 1345 1345 NM_001006607.2:c.1345G>A p.Val449Ile p.Val449Ile 1 616556 -1265 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 COSM328406|COSM328406 Pancreas|Haematopoietic and lymphoid tissue 0.000576|0.000283 1736|3530 transition G A G>A 0.000 0.528 V Val GTA 0.114 I Ile ATA 0.163 449 3 3 4 0 0 5.IX 5.II 84 111 29 243 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.G1345A:p.V449I . . 0.29166666 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.353 . . 24.0 . . . . . . . . . . -0.8272 -0.951 -0.827 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.210 @ . . . 0.38 0.38 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.256 0.010 . . 37 . 0.495 . . 0.420 . . . 0.640 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.148 . . 0 0 0 0 0 0 . 0.318 . . 0.322 . . . . . . 2 0.137 . . . . . 0.190 . 0.039 . HET 0.13 . . . . . . . ID\x3dCOSM328406\x3bOCCURENCE\x3d1(pancreas) . . . . . 6.0762 . ENST00000333412 II.51 I.35 . 0.160000 A6NM11 . . . . . 0.044 . . . . . . . . . . . . . . . . . . . . . . 0.428 . 1.508 1.508000 . . 0.160000 . . 1.0E-243 0.000 0.063 . 0.016 0.002 . 0.024 . 0.118 1.508 -0.062 . rs3893633 rs3893633 rs3893633 rs3893633 1 1538 10 1/0 0,255,255 +. 17 44591465 C T - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44591465 44591465 Chr17(GRCh37):g.44591465C>T *43257 *43257 NM_001113738.1:c.*43257G>A p.? p.? 4 43532 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 COSM328407|COSM328407 Thyroid|Pancreas 0.002677|0.000576 747|1736 transition G A G>A 0.000 -0.360 250 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C1387T:p.P463S . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.126 . . 22.0 . . . . . . . . . . -0.7449 -1.064 -0.745 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.026 @ . . . 0.37 0.35 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.342 0.014 . . 37 . 0.601 . . 0.561 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.681 . . 0 0 0 0 0 0 . 0.622 . . 0.584 . . . . . . 2 0.079 . . . . . 0.203 . 0.098 . HET 0.71 . . . . . . . ID\x3dCOSM328407\x3bOCCURENCE\x3d1(pancreas) . . . . . VI.53 . ENST00000333412 II.57 -5.15 . 0.100000 A6NM11 . . . . . 0.033 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.865 -0.865000 . . 0.100000 . . 1.0E-250 0.000 0.063 . 0.043 0.007 . 0.039 . 0.110 -0.865 0.853 . rs3893632 rs3893632 rs3893632 rs3893632 1 1538 10 1/0 0,255,255 +. 17 44591465 C T - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44591465 44591465 Chr17(GRCh37):g.44591465C>T 1387 1387 NM_001006607.2:c.1387C>T p.Pro463Ser p.Pro463Ser 1 616556 -1223 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 Cryptic Acceptor Weakly Activated 44591469 5.25858 0.759476 84.4675 6.57071 0.786252 84.4675 COSM328407|COSM328407 Thyroid|Pancreas 0.002677|0.000576 747|1736 transition C T C>T 0.000 -0.360 P Pro CCA 0.274 S Ser TCA 0.148 463 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 250 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.C1387T:p.P463S . . 0.3181818 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.126 . . 22.0 . . . . . . . . . . -0.7449 -1.064 -0.745 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.645 . . exonic exonic exonic . . 0.026 @ . . . 0.37 0.35 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.342 0.014 . . 37 . 0.601 . . 0.561 . . . 0.329 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.681 . . 0 0 0 0 0 0 . 0.622 . . 0.584 . . . . . . 2 0.079 . . . . . 0.203 . 0.098 . HET 0.71 . . . . . . . ID\x3dCOSM328407\x3bOCCURENCE\x3d1(pancreas) . . . . . VI.53 . ENST00000333412 II.57 -5.15 . 0.100000 A6NM11 . . . . . 0.033 . . . . . . . . . . . . . . . . . . . . . . 0.428 . -0.865 -0.865000 . . 0.100000 . . 1.0E-250 0.000 0.063 . 0.043 0.007 . 0.039 . 0.110 -0.865 0.853 . rs3893632 rs3893632 rs3893632 rs3893632 1 1538 10 1/0 0,255,255 +rs201430768 17 44592289 A G - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44592289 44592289 Chr17(GRCh37):g.44592289A>G *42433 *42433 NM_001113738.1:c.*42433T>C p.? p.? 4 42708 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 rs201430768 yes no Frequency 1 0.000000 0 0.000093 0.000274 0.000000 0.000000 0.000000 0.000421 0.000113 0.000000 0.000000 0.000421 5 2 0 0 0 1 2 0 0 53600 7290 7592 656 8042 2378 17722 8660 1260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.A2211G:p.P737P . . 0.54545456 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.4984 . . . . . . . . 3.062e-04 . . . 0 0.0003 0 0 0 0 0 0.0057 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.32 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.236e-05 0 0 0 0 0.0002 0 0.0004 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62073222 rs62073222 rs62073222 rs201430768 1 1538 10 1/0 0,255,255 +rs201430768 17 44592289 A G - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution synonymous exon GRCh37 44592289 44592289 Chr17(GRCh37):g.44592289A>G 2211 2211 NM_001006607.2:c.2211A>G p.Pro737= p.Pro737Pro 1 616556 -399 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 rs201430768 yes no Frequency 1 0.000000 0 0.000093 0.000274 0.000000 0.000000 0.000000 0.000421 0.000113 0.000000 0.000000 0.000421 5 2 0 0 0 1 2 0 0 53600 7290 7592 656 8042 2378 17722 8660 1260 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 2 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.602 P Pro CCA 0.274 P Pro CCG 0.115 737 255 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon1:c.A2211G:p.P737P . . 0.54545456 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . -0.4984 . . . . . . . . 3.062e-04 . . . 0 0.0003 0 0 0 0 0 0.0057 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.32 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.236e-05 0 0 0 0 0.0002 0 0.0004 0.0006 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62073222 rs62073222 rs62073222 rs201430768 1 1538 10 1/0 0,255,255 +. 17 44592699 T C - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44592699 44592699 Chr17(GRCh37):g.44592699T>C *42023 *42023 NM_001113738.1:c.*42023A>G p.? p.? 4 42298 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 Cryptic Donor Strongly Activated 44592699 0.081417 70.8022 5.88335 0.834908 82.9382 0.000097 0.001389 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001389 1 1 0 0 0 0 0 0 0 10320 720 2100 120 3012 680 2516 874 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.117 203 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . -0.2199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.34 182 ENSG00000238083 LRRC37A2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0001 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs2531767 rs2531767 rs2531767 rs2531767 1 1538 10 1/0 0,240,255 +. 17 44592699 T C - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution intron GRCh37 44592699 44592699 Chr17(GRCh37):g.44592699T>C 2609+12 2609+12 NM_001006607.2:c.2609+12T>C p.? p.? 1 1 616556 12 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 5.07554 0 0.000097 0.001389 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001389 1 1 0 0 0 0 0 0 0 10320 720 2100 120 3012 680 2516 874 298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -0.117 203 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 84.0 . . . . . . . . . . -0.2199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.34 182 ENSG00000238083 LRRC37A2 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0001 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . rs2531767 rs2531767 rs2531767 rs2531767 1 1538 10 1/0 0,240,255 +. 17 44627148 T C - ARL17A 24096 ADP ribosylation factor like GTPase 17A NM_001113738.1 -1 5273 534 NP_001107210.1 Q8IVW1 substitution downstream GRCh37 44627148 44627148 Chr17(GRCh37):g.44627148T>C *7574 *7574 NM_001113738.1:c.*7574A>G p.? p.? 4 7849 3' 90.8056 XI.02 0.946635 XII.33 90.8056 XI.02 0.946635 XII.33 0 transition A G A>G 0.803 -0.117 184 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon9:c.T4643C:p.I1548T . . 0.12328767 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.033 . . 73.0 . . . . . . . . . . -1.8344 -1.718 -1.834 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.164 @ . . . 0.28 0.19 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.042 . . 0.385 . . . 0.001 0.468 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.021 . 0.020 . LowAF 1 . . . . . . . . . . . . . I.45 . ENST00000333412 3.II 0.556 . 1.000000 . . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.120 0.120000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.043 0.451 . 0.071 . 0.082 0.120 -1.718 . rs2432822 rs2432822 rs2432822 rs2432822 1 1538 10 1/0 0,242,255 +. 17 44627148 T C - LRRC37A2 32404 Leucine rich repeat containing 37, member A2 NM_001006607.2 1 5175 5103 NP_001006608.2 A6NM11 substitution missense exon GRCh37 44627148 44627148 Chr17(GRCh37):g.44627148T>C 4643 4643 NM_001006607.2:c.4643T>C p.Ile1548Thr p.Ile1548Thr 9 616556 -62 5' 87.5642 8.40856 0.983411 6.66939 87.5642 8.40856 0.983411 6.93943 0 transition T C T>C 0.803 -0.117 I Ile ATT 0.356 T Thr ACT 0.243 1548 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 184 PASS . . . . . . . . . . . . . LRRC37A2:NM_001006607:exon9:c.T4643C:p.I1548T . . 0.12328767 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.033 . . 73.0 . . . . . . . . . . -1.8344 -1.718 -1.834 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.315 . . exonic exonic exonic . . 0.164 @ . . . 0.28 0.19 182 ENSG00000238083 LRRC37A2 LRRC37A2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.042 . . 0.385 . . . 0.001 0.468 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 5 0.010 . . . . . 0.021 . 0.020 . LowAF 1 . . . . . . . . . . . . . I.45 . ENST00000333412 3.II 0.556 . 1.000000 . . . . . . 0.014 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.120 0.120000 . . 1.000000 . . 9.999999999999999E-185 0.000 0.063 . 0.043 0.451 . 0.071 . 0.082 0.120 -1.718 . rs2432822 rs2432822 rs2432822 rs2432822 1 1538 10 1/0 0,242,255 +rs77532061 17 45214390 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214390 45214390 Chr17(GRCh37):g.45214390G>C 1931+128 1931+128 NM_001114091.3:c.1931+128C>G p.? p.? 14 14 116946 128 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Donor Strongly Activated 45214393 0.055947 69.4549 3.52916 0.590076 74.975 rs77532061 no no 0 G 0.000000 0 transversion C G C>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.79746836 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.8096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.47 0.32 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs77532061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77532061 rs77532061 1 1538 10 1/0 0,254,247 +rs78002830 17 45214392 C G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214392 45214392 Chr17(GRCh37):g.45214392C>G 1931+126 1931+126 NM_001114091.3:c.1931+126G>C p.? p.? 14 14 116946 126 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs78002830 no no 0 C 0.000000 0 transversion G C G>C 0.008 1.577 255 PASS . . . . . . . . . . . . . . . . 0.7848101 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 1.1088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.38 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs78002830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78002830 rs78002830 1 1538 10 1/0 0,254,247 +rs79972073 17 45214398 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214398 45214398 Chr17(GRCh37):g.45214398T>G 1931+120 1931+120 NM_001114091.3:c.1931+120A>C p.? p.? 14 14 116946 120 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs79972073 no no 0 T 0.000000 0 transversion A C A>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.7790698 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . 0.4275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.34 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79972073 0.620 0.630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.62 . . rs79972073 rs79972073 1 1538 10 1/0 0,251,244 +rs187747232 17 45214416 A T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214416 45214416 Chr17(GRCh37):g.45214416A>T 1931+102 1931+102 NM_001114091.3:c.1931+102T>A p.? p.? 14 14 116946 102 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs187747232 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30942 8736 832 302 1620 0 14978 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 41 Genomes transversion T A T>A 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.6753247 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.4307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.51 0.35 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187747232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs187747232 rs187747232 1 1538 10 1/0 0,255,255 +rs796708696 17 45214417 A T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214417 45214417 Chr17(GRCh37):g.45214417A>T 1931+101 1931+101 NM_001114091.3:c.1931+101T>A p.? p.? 14 14 116946 101 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs796708696 no no 0 A 0.000000 0 transversion T A T>A 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.6756757 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . . . . . . . . . 0.8501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796848625 17 45214418 G T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214418 45214418 Chr17(GRCh37):g.45214418G>T 1931+100 1931+100 NM_001114091.3:c.1931+100C>A p.? p.? 14 14 116946 100 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs796848625 no no 0 G 0.000000 0 transversion C A C>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.6933333 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . 0.8463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796503929 17 45214420 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214420 45214420 Chr17(GRCh37):g.45214420A>C 1931+98 1931+98 NM_001114091.3:c.1931+98T>G p.? p.? 14 14 116946 98 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Donor Strongly Activated 45214423 0.003225 64.7893 1.22984 0.026252 70.3025 rs796503929 no no 0 A 0.000000 0 transversion T G T>G 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.6875 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 80.0 . . . . . . . . . . 0.9886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,254 +rs78332669 17 45214430 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214430 45214430 Chr17(GRCh37):g.45214430A>G 1931+88 1931+88 NM_001114091.3:c.1931+88T>C p.? p.? 14 14 116946 88 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs78332669 no no 0 A 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30980 8734 838 302 1622 0 15010 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition T C T>C 0.000 0.609 255 PASS . . . . . . . . . . . . . . . . 0.76635516 . . @ 82 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . 1.0011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.33 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs78332669 0.446 0.399 . . . . . . . . . . . . . . . . . . . . . . . . . . II.33 . . . . . . . . . 0 3.228e-05 0 0 0 0 6.662e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.45 . . rs78332669 rs78332669 1 1538 10 1/0 0,248,241 +rs74648663 17 45214434 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214434 45214434 Chr17(GRCh37):g.45214434T>C 1931+84 1931+84 NM_001114091.3:c.1931+84A>G p.? p.? 14 14 116946 84 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs74648663 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.7657658 . . @ 85 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . 0.7128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.53 0.35 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74648663 0.533 0.507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.53 . . rs74648663 rs74648663 1 1538 10 1/0 0,244,237 +rs76499169 17 45214453 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214453 45214453 Chr17(GRCh37):g.45214453A>C 1931+65 1931+65 NM_001114091.3:c.1931+65T>G p.? p.? 14 14 116946 65 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Donor Strongly Activated 45214453 0.000483 63.6694 3.13001 0.395257 76.2844 rs76499169 no no 0 A 0.000000 0 transversion T G T>G 0.197 2.385 255 PASS . . . . . . . . . . . . . . . . 0.8141026 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . I.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.61 0.5 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76499169 0.467 0.457 . . . . . . . . . . . . . . . . . . . . . . . . . . IV.66 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 . . rs76499169 rs76499169 1 1538 10 1/0 0,234,229 +rs79881964 17 45214465 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214465 45214465 Chr17(GRCh37):g.45214465T>C 1931+53 1931+53 NM_001114091.3:c.1931+53A>G p.? p.? 14 14 116946 53 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs79881964 no no 0 T 0.000000 0 transition A G A>G 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.80128205 . . @ 125 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . 0.9978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.29 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79881964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79881964 rs79881964 1 1538 10 1/0 0,236,230 +rs76285115 17 45214466 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214466 45214466 Chr17(GRCh37):g.45214466A>G 1931+52 1931+52 NM_001114091.3:c.1931+52T>C p.? p.? 14 14 116946 52 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs76285115 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30964 8730 836 302 1622 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 41 Genomes transition T C T>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.8136646 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 161.0 . . . . . . . . . . 0.8314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.27 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76285115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76285115 rs76285115 1 1538 10 1/0 0,236,231 +rs146006352 17 45214473 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214473 45214473 Chr17(GRCh37):g.45214473A>G 1931+45 1931+45 NM_001114091.3:c.1931+45T>C p.? p.? 14 14 116946 45 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Donor Strongly Activated 45214472 4.73641 0.257916 68.3109 V.97 0.54442 67.9077 rs146006352 no no 0 A 0.000000 0 transition T C T>C 0.000 1.497 255 PASS . . . . . . . . . . . . . . . . 0.8181818 . . @ 144 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . I.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.67 0.55 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs146006352 0.380 0.384 . . . . . . . . . . . . . . . . . . . . . . . . . . IV.94 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.38 . . rs146006352 rs146006352 1 1538 10 1/0 0,231,226 +rs372605318 17 45214482 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214482 45214482 Chr17(GRCh37):g.45214482A>C 1931+36 1931+36 NM_001114091.3:c.1931+36T>G p.? p.? 14 14 116946 36 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs372605318 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.79891306 . . @ 147 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 184.0 . . . . . . . . . . 1.1499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372605318 0.283 0.254 . . . . . . . . . . . . . . . . . . . . . . . . . . II.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.28 . . rs372605318 rs372605318 1 1538 10 1/0 0,231,226 +rs144880397 17 45214486 C G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214486 45214486 Chr17(GRCh37):g.45214486C>G 1931+32 1931+32 NM_001114091.3:c.1931+32G>C p.? p.? 14 14 116946 32 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs144880397 yes no Frequency/1000G 2 C 0.000000 0 transversion G C G>C 0.740 1.335 255 PASS . . . . . . . . . . . . . . . . 0.81005585 . . @ 145 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . I.35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.66 0.5 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs144880397 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . III.64 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs144880397 rs144880397 1 1538 10 1/0 0,233,228 +rs147721623 17 45214488 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214488 45214488 Chr17(GRCh37):g.45214488A>G 1931+30 1931+30 NM_001114091.3:c.1931+30T>C p.? p.? 14 14 116946 30 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs147721623 no no 0 A 0.000000 0 transition T C T>C 0.551 0.286 255 PASS . . . . . . . . . . . . . . . . 0.79444444 . . @ 143 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . I.49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.61 0.45 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs147721623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs147721623 rs147721623 1 1538 10 1/0 0,232,227 +rs796299832 17 45214501 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214501 45214501 Chr17(GRCh37):g.45214501A>G 1931+17 1931+17 NM_001114091.3:c.1931+17T>C p.? p.? 14 14 116946 17 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 rs796299832 no no 0 A 0.000000 0 transition T C T>C 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.79041916 . . @ 132 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . 1.0282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,231 +rs112530322 17 45214510 C G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution intron GRCh37 45214510 45214510 Chr17(GRCh37):g.45214510C>G 1931+8 1931+8 NM_001114091.3:c.1931+8G>C p.? p.? 14 14 116946 8 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.993098 0 0.00321776 rs112530322 yes no Frequency 1 C 0.000000 0 COSM5453162|COSM5453162 Liver|Large intestine 0.000844|0.000414 2371|2418 transversion G C G>C 0.709 0.125 255 PASS . . . . . . . . . . . . . . . . 0.86530614 . . @ 212 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 245.0 . . . . . . . . . . I.26 . . . . . . . . 1.579e-05 . . . 0 1.257e-05 0 0 0 2.698e-05 0 0 0 1.084e-05 0 0 0 2.135e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.65 0.46 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs112530322 0.087 0.080 . . . . . . . . . . . . . . . . . . 0 0.002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 . . rs112530322 rs112530322 1 1538 10 1/0 0,216,212 +rs62075617 17 45214523 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214523 45214523 Chr17(GRCh37):g.45214523A>C 1926 1926 NM_001114091.3:c.1926T>G p.Asn642Lys p.Asn642Lys 14 116946 -6 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983952 0 0.000118273 Tetratricopeptide TPR1 Tetratricopeptide TPR2 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075617 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 239854 14964 32064 9776 16916 29778 110428 20664 5264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 46 Exomes COSM4130184|COSM4130184|COSM4130184 Thyroid|Liver|Large intestine 0.004016|0.000422|0.000414 747|2371|2418 transversion T G T>G 1.000 2.223 N Asn AAT 0.464 K Lys AAG 0.575 642 13 12 Baker's yeast 0 0 0 I.33 0.33 11.VI 11.III 56 119 94 C0 85.11 21.98 Tolerated 0.15 3.00 255 PASS . . . . . . . . . . . . . . . . 0.8784314 . . @ 224 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.613 . @ . . . . . 1 0.825 . . 255.0 . . . . . . . . . . 0.4300 0.433 0.430 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.592 . . exonic exonic exonic . . 0.630 @ . . . 0.64 0.6 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.633 0.048 . . 37 . 0.659 . . 0.693 . . . 0.834 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.782 . . 0 0 0 0 0 0 . 0.485 . . 0.491 . . . . . . 0 0.384 . . . . . 0.437 . 0.515 . HOM 0 rs62075617 0.087 0.087 . . . . . . . . . . 10.485 . . V.98 IV.88 . 0.030000 . . . . . . 0.742 . . IV.88 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.547 . 1.054 1.054000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.697 1.000 . 0.493 . 0.252 1.054 1.062 0.087 rs62075617 rs62075617 rs62075617 rs62075617 1 1538 10 1/0 0,216,212 +rs62075619 17 45214544 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45214544 45214544 Chr17(GRCh37):g.45214544T>C 1905 1905 NM_001114091.3:c.1905A>G p.Arg635= p.Arg635Arg 14 116946 -27 5' 91.1822 11.0134 0.983603 0 91.1822 11.0134 0.983603 0 0 Cryptic Acceptor Strongly Activated 45214544 3.17235 0.001642 65.8564 4.18829 0.007134 69.7673 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075619 no no 0 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000184 0.000000 1 0 0 0 0 0 0 0 1 244702 15286 33376 9844 17232 30664 111292 21566 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 64 Exomes COSM306935|COSM306935|COSM306935|COSM306935 Thyroid|Liver|Large intestine|Central nervous system 0.008032|0.000844|0.000827|0.000416 747|2371|2418|2405 transition A G A>G 1.000 2.062 R Arg AGA 0.205 R Arg AGG 0.207 635 255 PASS . . . . . . . . . . . . . . . . 0.9014599 . . @ 247 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 274.0 . . . . . . . . . . II.43 . . . . . . . . 3.157e-05 . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.67 0.55 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62075619 0.011 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . V.81 0 4.087e-06 0 0 0 0 0 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs62075619 rs62075619 rs62075619 rs62075619 1 1538 10 1/0 0,215,212 +rs796969472 17 45214648 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214648 45214648 Chr17(GRCh37):g.45214648G>C 1801 1801 NM_001114091.3:c.1801C>G p.Gln601Glu p.Gln601Glu 14 116946 79 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 8.23496 0 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs796969472 no no 0 G 0.000000 0 COSM4130196|COSM4130196 Thyroid|Haematopoietic and lymphoid tissue 0.002677|0.000283 747|3533 transversion C G C>G 1.000 3.757 Q Gln CAA 0.256 E Glu GAA 0.417 601 13 13 Baker's yeast 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C25 0.00 29.27 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.91150445 . . @ 103 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.511 . @ . . . . . 1 0.597 . . 113.0 . . . . . . . . . . 0.6200 0.630 0.620 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.350 . . exonic exonic exonic . . 0.615 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.500 0.027 . . 37 . 0.618 . . 0.680 . . . 0.782 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.566 . . 0 0 0 0 0 0 . 0.533 . . 0.505 . . . . . . 0 0.912 . . . . . 0.630 . 0.807 . HOM 0 . . . . . . . . . . . . . 13.8791 . . V.81 IV.82 . 0.000000 . . . . . . 0.882 . . IV.82 . . . . . . . . . . . . . . . . . . . 0.820 . 1.429 1.429000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.697 0.999 . 0.895 . 0.200 1.429 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs796265930 17 45214651 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214651 45214651 Chr17(GRCh37):g.45214651T>G 1798 1798 NM_001114091.3:c.1798A>C p.Ile600Leu p.Ile600Leu 14 116946 76 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 7.77281 0 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs796265930 no no 0 T 0.000000 0 COSM4130198|COSM4130198 Thyroid|Haematopoietic and lymphoid tissue 0.002677|0.000283 747|3533 transversion A C A>C 1.000 4.483 I Ile ATC 0.481 L Leu CTC 0.197 600 13 11 C. elegans 2 2 2 0 0 5.II 4.IX 111 111 5 C0 89.28 IV.86 Tolerated 0.09 3.00 255 PASS . . . . . . . . . . . . . . . . 0.90909094 . . @ 100 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.510 . @ . . . . . 1 0.438 . . 110.0 . . . . . . . . . . 0.0113 0.222 0.011 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.924 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.302 0.012 . . 37 . 0.332 . . 0.240 . . . 0.155 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.338 . . 0 0 0 0 0 0 . 0.302 . . 0.317 . . . . . . 0 0.574 . . . . . 0.645 . 0.713 . HOM 0.03 . . . . . . . . . . . . . 14.1085 . . V.81 V.81 . 0.090000 . . . . . . 0.795 . . V.81 . . . . . . . . . . . . . . . . . . . 0.820 . 2.228 2.228000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.641 . 0.209 2.228 0.991 . . . . . 1 1538 10 1/0 0,255,255 +rs775321736 17 45214654 C T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214654 45214654 Chr17(GRCh37):g.45214654C>T 1795 1795 NM_001114091.3:c.1795G>A p.Ala599Thr p.Ala599Thr 14 116946 73 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 7.67826 0 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs775321736 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245146 15286 33334 9838 17190 30696 111254 22094 5454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 83 Exomes COSM4130200|COSM4130200 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000283 747|3533 transition G A G>A 1.000 5.451 A Ala GCT 0.263 T Thr ACT 0.243 599 13 13 Baker's yeast 0 0 0 0 0.71 8.I 8.VI 31 61 58 C55 0.00 58.02 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.9108911 . . @ 92 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.942 . @ . . . . . 1 0.993 . . 101.0 . . . . . . . . . . 0.9640 0.903 0.964 c . . . . . 7.103e-05 . . . 9.696e-05 2.211e-05 0 0 0 2.381e-05 0 0 0 1.887e-05 0 0 0.0002 1.843e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.556 . . exonic exonic exonic . . 0.924 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.859 0.186 . . 37 . 0.933 . . 0.948 . . . 0.980 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.694 . . 0 0 0 0 0 0 . 0.629 . . 0.649 . . . . . . 0 0.912 . . . . . 0.878 . 0.874 . HOM 0 rs775321736 . . . . . . . . . . . . 17.5633 . . V.81 V.81 . 0.000000 . . . . . . 0.897 . . V.81 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.820 . 2.761 2.761000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.717 . 0.154 2.761 0.871 . . . . . 1 1538 10 1/0 0,255,255 +rs62075620 17 45214669 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214669 45214669 Chr17(GRCh37):g.45214669T>G 1780 1780 NM_001114091.3:c.1780A>C p.Lys594Gln p.Lys594Gln 14 116946 58 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 7.94134 0 Cryptic Acceptor Strongly Activated 45214657 4.95335 0.368216 86.1205 5.32015 0.616048 89.0371 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075620 no no 0 T 0.000000 0 COSM4130202|COSM4130202 Thyroid|Liver 0.001339|0.000422 747|2371 transversion A C A>C 1.000 4.644 K Lys AAA 0.425 Q Gln CAA 0.256 594 13 12 Baker's yeast 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 56.87 XII.95 Deleterious 0.04 3.00 255 PASS . . . . . . . . . . . . . . . . 0.89285713 . . @ 75 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.853 . @ . . . . . 1 0.703 . . 84.0 . . . . . . . . . . 0.7107 0.716 0.711 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.924 @ . . . 0.64 0.57 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.516 0.029 . . 37 . 0.740 . . 0.761 . . . 0.698 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.667 . . 0 0 0 0 0 0 . 0.764 . . 0.641 . . . . . . 0 0.912 . . . . . 0.645 . 0.789 . HOM 0 rs62075620 . . . . . . . . . . . . 14.1085 . . V.81 V.81 . 0.040000 . . . . . . 0.911 . . V.81 . . . . . . . . . . . . . . . . . . . 0.820 . 2.228 2.228000 . . 0.040000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.725 . 0.209 2.228 0.991 . rs62075620 rs62075620 rs62075620 rs62075620 1 1538 10 1/0 0,255,255 +rs62075621 17 45214673 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45214673 45214673 Chr17(GRCh37):g.45214673T>C 1776 1776 NM_001114091.3:c.1776A>G p.Ala592= p.Ala592Ala 14 116946 54 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 8.25962 0 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075621 no no 0 T 0.000000 0 COSM6263359 Liver 0.001265 2371 transition A G A>G 1.000 0.528 A Ala GCA 0.226 A Ala GCG 0.107 592 255 PASS . . . . . . . . . . . . . . . . 0.8674699 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . . . . . . . . . II.98 . . . . . . . . 7.893e-06 . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.58 0.56 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62075621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62075621 rs62075621 rs62075621 rs62075621 1 1538 10 1/0 0,255,255 +rs62075623 17 45214699 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45214699 45214699 Chr17(GRCh37):g.45214699T>C 1750 1750 NM_001114091.3:c.1750A>G p.Ser584Gly p.Ser584Gly 14 116946 28 3' 81.9697 8.29253 0.929632 7.86578 81.9697 8.29253 0.929632 VIII.06 0 Cryptic Donor Strongly Activated 45214699 8.1e-05 48.9869 1.25725 0.004113 61.123 Tetratricopeptide TPR1 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62075623 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242856 15120 32584 9832 17068 30216 110862 21824 5350 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 60 Exomes COSM4130206|COSM4130206 Thyroid|Liver 0.005355|0.000844 747|2371 transition A G A>G 1.000 4.644 S Ser AGT 0.149 G Gly GGT 0.162 584 13 13 Baker's yeast 0 0 -1 I.42 0.74 9.II 9 32 3 56 C55 0.00 55.27 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.7692308 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.592 . @ . . . . . 1 0.907 . . 52.0 . . . . . . . . . . 0.6664 0.676 0.666 c . . . . . 1.579e-05 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.381 . . exonic exonic exonic . . 0.924 @ . . . 0.64 0.56 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.535 0.031 . . 37 . 0.565 . . 0.687 . . . 0.980 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.671 . . 0 0 0 0 0 0 . 0.528 . . 0.486 . . . . . . 0 0.599 . . . . . 0.645 . 0.773 . HOM 0 rs62075623 . . . . . . . . . . . . 14.1085 . . V.81 V.81 . 0.010000 . . . . . . 0.891 . . V.81 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.820 . 2.228 2.228000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.725 . 0.209 2.228 0.991 . rs62075623 rs62075623 rs62075623 rs62075623 1 1538 10 1/0 0,255,255 +rs62075659 17 45216210 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45216210 45216210 Chr17(GRCh37):g.45216210A>G 1617 1617 NM_001114091.3:c.1617T>C p.Val539= p.Val539Val 13 116946 48 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.988501 9.17428 0 Tetratricopeptide repeat-containing domain rs62075659 yes no Frequency 1 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 239226 14782 32024 9708 16680 29946 109134 21650 5302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 53 Exomes COSM287917|COSM287917 Liver|Large intestine 0.001687|0.001241 2371|2418 transition T C T>C 0.874 -0.763 V Val GTT 0.178 V Val GTC 0.240 539 255 PASS . . . . . . . . . . . . . . . . 0.86764705 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . I.34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.51 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62075659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.18e-06 0 0 0 0 0 0 3.339e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2311270 rs2311270 rs62075659 rs62075659 1 1538 10 1/0 0,255,255 +rs62077260 17 45216216 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45216216 45216216 Chr17(GRCh37):g.45216216A>G 1611 1611 NM_001114091.3:c.1611T>C p.Tyr537= p.Tyr537Tyr 13 116946 42 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.988501 8.62946 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs62077260 no no 0 A 0.000000 0 0.000007 0.000000 0.000030 0.000000 0.000054 0.000000 0.000000 0.000000 0.000000 0.000054 2 0 1 0 1 0 0 0 0 272978 23738 33114 10046 18644 30140 125366 25596 6334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM287919|COSM287919|COSM287919 Upper aerodigestive tract|Liver|Large intestine 0.000804|0.001265|0.000827 1244|2371|2418 transition T C T>C 0.992 0.448 Y Tyr TAT 0.438 Y Tyr TAC 0.562 537 255 PASS . . . . . . . . . . . . . . . . 0.86153847 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . I.90 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.57 0.55 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62077260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.132e-06 3.098e-05 0 0 0 0 0 0 0 3.229e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62077260 rs62077260 rs62077260 rs62077260 1 1538 10 1/0 0,255,255 +rs76715333 17 45216231 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45216231 45216231 Chr17(GRCh37):g.45216231T>C 1596 1596 NM_001114091.3:c.1596A>G p.Arg532= p.Arg532Arg 13 116946 27 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.988501 8.38841 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs76715333 no no 0 T 0.000000 0 COSM5453164 Large intestine 0.000414 2418 transition A G A>G 0.992 0.367 R Arg AGA 0.205 R Arg AGG 0.207 532 255 PASS . . . . . . . . . . . . . . . . 0.7704918 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . I.99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.54 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76715333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76715333 rs76715333 1 1538 10 1/0 0,255,255 +rs201607934 17 45216247 A T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45216247 45216247 Chr17(GRCh37):g.45216247A>T 1580 1580 NM_001114091.3:c.1580T>A p.Ile527Lys p.Ile527Lys 13 116946 11 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.992463 8.47546 0.00133603 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs201607934 no no 0 A 0.000000 0 COSM6265173 Liver 0.000422 2371 transversion T A T>A 1.000 4.160 I Ile ATA 0.163 K Lys AAA 0.425 527 13 10 C. elegans -3 -3 -5 0 0.33 5.II 11.III 111 119 102 C15 57.46 83.02 Deleterious 0.01 3.00 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.652 . @ . . . . . 1 0.249 . . 45.0 . . . . . . . . . . 0.4341 0.512 0.434 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.747 . . exonic exonic exonic . . 0.722 @ . . . 0.6 0.58 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . D 0.680 0.060 . . 37 . 0.698 . . 0.718 . . . 0.400 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.600 . . 0 0 0 0 0 0 . 0.442 . . 0.412 . . . . . . 0 0.424 . . . . . 0.582 . 0.756 . HET 0 rs201607934 . . . . . . . . . . . . 13.0557 . . V.22 V.22 . 0.130000 . . . . . . 0.641 . . V.22 . . . . . . . . . . . . . . . . . . . 0.553 . 1.972 1.972000 . . 0.130000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.927 . 0.854 1.972 1.062 . . . rs201607934 rs201607934 1 1538 10 1/0 0,255,255 +rs199927167 17 45216248 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45216248 45216248 Chr17(GRCh37):g.45216248T>G 1579 1579 NM_001114091.3:c.1579A>C p.Ile527Leu p.Ile527Leu 13 116946 10 3' 100 7.18745 0.988501 8.36595 100 7.18745 0.987753 8.37192 -0.000252234 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs199927167 no no 0 T 0.000000 0 COSM6263361 Liver 0.000422 2371 transversion A C A>C 1.000 1.013 I Ile ATA 0.163 L Leu CTA 0.070 527 13 10 C. elegans 2 2 2 0 0 5.II 4.IX 111 111 5 C0 57.46 0.00 Tolerated 0.16 3.00 255 PASS . . . . . . . . . . . . . . . . 0.5777778 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.333 . @ . . . . . 1 0.273 . . 45.0 . . . . . . . . . . -0.3585 -0.172 -0.358 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.736 . . exonic exonic exonic . . 0.478 @ . . . 0.6 0.6 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . T 0.292 0.011 . . 37 . 0.552 . . 0.429 . . . 0.263 0.508 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.166 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.157 . . . . . 0.219 . 0.542 . HET 0.06 rs199927167 . . . . . . . . . . . . VI.63 . . V.22 IV.15 . 0.480000 . . . . . . 0.349 . . IV.15 . . . . . . . . . . . . . . . . . . . 0.553 . 0.839 0.839000 . . 0.480000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.376 . 0.567 0.839 0.991 . rs4071888 rs4071888 rs199927167 rs199927167 1 1538 10 1/0 0,255,255 +rs79201963 17 45219239 C T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219239 45219239 Chr17(GRCh37):g.45219239C>T 1549 1549 NM_001114091.3:c.1549G>A p.Glu517Lys p.Glu517Lys 12 116946 -21 5' 87.864 10.0774 0.991576 1.99166 87.864 10.0774 0.991576 1.51578 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs79201963 no no 0 C 0.000000 0 COSM436752|COSM436752|COSM436752|COSM436752 Thyroid|Liver|Large intestine|Breast 0.001339|0.000422|0.000827|0.000402 747|2371|2418|2490 transition G A G>A 1.000 5.774 E Glu GAA 0.417 K Lys AAA 0.425 517 13 13 Baker's yeast 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C55 0.00 56.87 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.6603774 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.939 . @ . . . . . 1 0.992 . . 53.0 . . . . . . . . . . 0.9670 0.936 0.967 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.751 . . exonic exonic exonic . . 0.955 @ . . . 0.37 0.52 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.755 0.090 . . 37 . 0.875 . . 0.888 . . . 0.758 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.706 . . 0 0 0 0 0 0 . 0.899 . . 0.916 . . . . . . 0 0.912 . . . . . 0.885 . 0.913 . HET 0 rs79201963 . . . . . . . . . . . . 17.8151 . . V.92 V.92 . 0.000000 . . . . . . 0.888 . . V.92 . . . . . . . . . . . . . . . . . . . 0.547 . 2.810 2.810000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.848 . 0.490 2.810 0.871 . . . rs79201963 rs79201963 1 1538 10 1/0 0,255,255 +rs80029043 17 45219241 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219241 45219241 Chr17(GRCh37):g.45219241A>C 1547 1547 NM_001114091.3:c.1547T>G p.Phe516Cys p.Phe516Cys 12 116946 -23 5' 87.864 10.0774 0.991576 1.99166 87.864 10.0774 0.991576 2.32159 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs80029043 no no 0 A 0.000000 0 COSM349353|COSM349353|COSM349353|COSM349353 Lung|Liver|Large intestine|Cervix 0.000418|0.000844|0.000827|0.003040 2390|2371|2418|329 transversion T G T>G 1.000 3.111 F Phe TTT 0.454 C Cys TGT 0.448 516 13 12 Baker's yeast -2 -2 -4 0 II.75 5.II 5.V 132 55 205 C55 21.61 191.71 Deleterious 0 3.00 255 PASS . . . . . . . . . . . . . . . . 0.6545454 . . @ 36 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.395 . @ . . . . . 1 0.348 . . 55.0 . . . . . . . . . . 0.5448 0.612 0.545 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.746 . . exonic exonic exonic . . 0.955 @ . . . 0.4 0.53 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.640 0.049 . . 37 . 0.743 . . 0.786 . . . 0.618 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.880 . . 0 0 0 0 0 0 . 0.476 . . 0.400 . . . . . . 0 0.357 . . . . . 0.659 . 0.872 . HET 0.01 rs80029043 . . . . . . . . . . . . 14.3156 . . V.92 V.92 . 0.060000 . . . . . . 0.835 . . V.92 . . . . . . . . . . . . . . . . . . . 0.547 . 2.267 2.267000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.774 . 0.266 2.267 1.062 . . . rs80029043 rs80029043 1 1538 10 1/0 0,255,255 +rs79415072 17 45219255 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45219255 45219255 Chr17(GRCh37):g.45219255A>G 1533 1533 NM_001114091.3:c.1533T>C p.Ile511= p.Ile511Ile 12 116946 -37 5' 87.864 10.0774 0.991576 1.99166 87.864 10.0774 0.991576 2.67989 0 Tetratricopeptide repeat Tetratricopeptide repeat-containing domain rs79415072 no no 0 A 0.000000 0 COSM292500|COSM292500 Liver|Large intestine 0.000844|0.000414 2371|2418 transition T C T>C 1.000 0.609 I Ile ATT 0.356 I Ile ATC 0.481 511 255 PASS . . . . . . . . . . . . . . . . 0.7037037 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . I.69 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.39 0.51 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79415072 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . II.45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . rs79415072 rs79415072 1 1538 10 1/0 0,255,255 +rs796538886 17 45219329 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219329 45219329 Chr17(GRCh37):g.45219329A>C 1459 1459 NM_001114091.3:c.1459T>G p.Cys487Gly p.Cys487Gly 12 116946 63 3' 86.146 7.48905 0.825246 4.47221 86.146 7.48905 0.825246 4.59684 0 rs796538886 no no 0 A 0.000000 0 transversion T G T>G 1.000 4.725 C Cys TGC 0.552 G Gly GGC 0.342 487 13 11 Fruitfly -3 -3 -6 II.75 0.74 5.V 9 55 3 159 C0 236.02 29.38 Tolerated 0.25 3.00 255 PASS . . . . . . . . . . . . . . . . 0.3783784 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.684 . @ . . . . . 1 0.400 . . 37.0 . . . . . . . . . . 0.8384 0.842 0.838 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.726 . . exonic exonic exonic . . 0.955 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.709 0.070 . . 37 . 0.812 . . 0.832 . . . 0.694 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.984 . . 0 0 0 0 0 0 . 0.764 . . 0.692 . . . . . . 0 0.546 . . . . . 0.659 . 0.973 . HET 0.02 . . . . . . . . . . . . . 14.3156 . . V.92 V.92 . 0.010000 . . . . . . 0.877 . . V.92 . . . . . . . . . . . . . . . . . . . 0.820 . 2.267 2.267000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.945 . 0.960 2.267 1.062 . . . . . 1 1538 10 1/0 0,255,255 +rs62077261 17 45219332 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219332 45219332 Chr17(GRCh37):g.45219332T>G 1456 1456 NM_001114091.3:c.1456A>C p.Asn486His p.Asn486His 12 116946 60 3' 86.146 7.48905 0.825246 4.47221 86.146 7.48905 0.825246 4.44676 0 rs62077261 yes no Frequency 1 T 0.000000 0 0.000173 0.000086 0.000538 0.000000 0.000455 0.000034 0.000098 0.000159 0.000325 0.000538 46 2 17 0 8 1 12 4 2 265262 23164 31588 9732 17564 29344 122610 25106 6154 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 2 17 0 8 1 12 4 2 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4130226 Thyroid 0.009371 747 transversion A C A>C 1.000 4.725 N Asn AAC 0.536 H His CAC 0.587 486 13 12 Baker's yeast 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 45.75 24.VIII Deleterious 0.02 3.00 242 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.348 . @ . . . . . 1 0.771 . . 35.0 . . . . . . . . . . 0.7111 0.742 0.711 c . . . . . 1.429e-03 . . . 0.0013 0.0009 0.0003 0.0005 0 0.0007 0 0.0020 0.0014 0.0009 0.0003 0.0010 0 0.0006 0 0.0020 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.737 . . exonic exonic exonic . . 0.955 @ . . . 0.38 0.59 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.507 0.028 . . 37 . 0.795 . . 0.806 . . . 0.424 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.295 . . 0 0 0 0 0 0 . 0.689 . . 0.605 . . . . . . 0 0.501 . . . . . 0.659 . 0.662 . HET 0.07 rs62077261 . . . . . . . . . . . . 14.3157 . . V.92 V.92 . 0.050000 . . . . . . 0.830 . . V.92 0.0001 0.0002 0.0006 0 0.0005 0.0002 0.0001 0.0004 3.408e-05 0 0 0 0 0 0 0 0 . . 0.547 . 2.267 2.267000 . . 0.050000 . . 1.0E-242 1.000 0.715 . 0.888 0.999 . 0.871 . 0.807 2.267 0.991 . rs62077261 rs62077261 rs62077261 rs62077261 1 1538 10 1/0 0,255,255 +rs796673584 17 45219336 T A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45219336 45219336 Chr17(GRCh37):g.45219336T>A 1452 1452 NM_001114091.3:c.1452A>T p.Ser484= p.Ser484Ser 12 116946 56 3' 86.146 7.48905 0.825246 4.47221 86.146 7.48905 0.825246 4.18703 0 rs796673584 no no 0 T 0.000000 0 COSM5021949 Bone 0.001757 569 transversion A T A>T 0.142 -1.570 S Ser TCA 0.148 S Ser TCT 0.185 484 228 PASS . . . . . . . . . . . . . . . . 0.24242425 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 33.0 . . . . . . . . . . 0.6637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs79929872 17 45219646 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219646 45219646 Chr17(GRCh37):g.45219646A>C 1345 1345 NM_001114091.3:c.1345T>G p.Ser449Ala p.Ser449Ala 11 116946 -52 5' 79.9438 6.84237 0.414393 0 79.9438 6.84237 0.414393 0 0 rs79929872 no no 0 A 0.000000 0 COSM4130228 Thyroid 0.001339 747 transversion T G T>G 0.992 0.125 S Ser TCC 0.220 A Ala GCC 0.403 449 13 8 C. elegans 1 1 2 I.42 0 9.II 8.I 32 31 99 C0 222.42 0.00 Tolerated 0.35 3.I 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.197 . . 25.0 . . . . . . . . . . -0.8596 -0.675 -0.860 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.667 . . exonic exonic exonic . . 0.171 @ . . . 0.56 0.44 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.327 . . . . T 0.148 0.006 . . 37 . 0.358 . . 0.338 . . . 0.225 0.323 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.051 . . . . . 0.032 . 0.560 . HET 0.65 rs79929872 . . . . . . . . . . . . I.96 . . V.58 0.683 . 1.000000 . . . . . . 0.415 . . . . . . . . . . . . . . . . . . . . . . 0.988 . -0.177 -0.177000 . . 1.000000 . . 1.0000000000000001E-227 1.000 0.715 . 0.574 0.998 . 0.312 . 0.102 -0.177 0.079 . . . rs79929872 rs79929872 1 1538 10 1/0 0,255,255 +rs74547959 17 45219746 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45219746 45219746 Chr17(GRCh37):g.45219746T>G 1245 1245 NM_001114091.3:c.1245A>C p.Thr415= p.Thr415Thr 11 116946 57 3' 92.3205 IX.94 0.944771 5.49721 92.3205 IX.94 0.944771 5.49748 0 rs74547959 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 179536 11122 25618 8626 12916 24734 73200 18982 4338 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM4130238|COSM4130238 Thyroid|Liver 0.001339|0.000422 747|2371 transversion A C A>C 0.992 -0.037 T Thr ACA 0.280 T Thr ACC 0.361 415 209 PASS . . . . . . . . . . . . . . . . 0.18604651 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 2.1862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.56 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74612656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . rs74547959 rs74547959 1 1538 10 1/0 0,255,255 +rs74727415 17 45219750 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45219750 45219750 Chr17(GRCh37):g.45219750T>C 1241 1241 NM_001114091.3:c.1241A>G p.Lys414Arg p.Lys414Arg 11 116946 53 3' 92.3205 IX.94 0.944771 5.49721 92.3205 IX.94 0.944771 5.66117 0 rs74727415 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 179344 11148 25540 8620 12914 24682 73154 18962 4324 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 46 Exomes COSM4130240|COSM4130240 Thyroid|Liver 0.001339|0.000422 747|2371 transition A G A>G 1.000 4.402 K Lys AAA 0.425 R Arg AGA 0.205 414 13 10 Fruitfly 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 238.76 13.90 Tolerated 0.15 3.I 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.508 . @ . . . . . 1 0.910 . . 45.0 . . . . . . . . . . 0.5165 0.565 0.516 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.708 . . exonic exonic exonic . . 0.789 @ . . . 0.63 0.59 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.638 0.049 . . 37 . 0.691 . . 0.691 . . . 0.397 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.561 . . 0.488 . . . . . . 0 0.272 . . . . . 0.604 . 0.736 . HET 0.11 rs74727415 . . . . . . . . . . . . 13.4428 . . V.43 V.43 . 0.200000 . . . . . . 0.617 . . V.43 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.988 . 2.074 2.074000 . . 0.200000 . . 1.0E-198 1.000 0.715 . 0.888 1.000 . 0.869 . 0.635 2.074 0.991 . . . rs74727415 rs74727415 1 1538 10 1/0 0,255,255 +rs1064545 17 45221251 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221251 45221251 Chr17(GRCh37):g.45221251T>C 1186 1186 NM_001114091.3:c.1186A>G p.Lys396Glu p.Lys396Glu 10 116946 -3 5' 87.3006 8.82915 0.978094 3.96241 84.5526 8.87846 0.958192 3.41242 -0.0154136 rs1064545 no no 0 T 0.000000 0 COSM4130244|COSM4130244 Thyroid|Liver 0.001339|0.000844 747|2371 transition A G A>G 1.000 4.483 K Lys AAG 0.575 E Glu GAG 0.583 396 13 9 C. elegans 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 0.4 3.I 227 PASS . . . . . . . . . . . . . . . . 0.24 . . @ 6 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.680 . @ . . . . . 1 0.901 . . 25.0 . . . . . . . . . . 0.5706 0.593 0.571 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.714 . . exonic exonic exonic . . 0.846 @ . . . 0.62 0.65 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.723 0.075 . . 37 . 0.784 . . 0.755 . . . 0.421 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.715 . . 0.617 . . . . . . 0 0.195 . . . . . 0.619 . 0.855 . HET 0.01 rs1064545 . . . . . . . . . . . . 13.7041 . . V.59 V.59 . 0.630000 . 0.2480 0.454 . . . 0.949 . . V.59 . . . . . . . . . . . . . . . . . . . 0.988 . 2.129 2.129000 . . 0.630000 . . 1.0000000000000001E-227 1.000 0.715 . 0.888 1.000 . 0.869 . 0.807 2.129 0.991 . rs1064545 rs1064545 rs1064545 rs1064545 1 1538 10 1/0 0,255,255 +rs1141701 17 45221273 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221273 45221273 Chr17(GRCh37):g.45221273A>C 1164 1164 NM_001114091.3:c.1164T>G p.Phe388Leu p.Phe388Leu 10 116946 -25 5' 87.3006 8.82915 0.978094 3.96241 87.3006 8.82915 0.978094 5.1398 0 rs1141701 no no 0 A 0.000000 0 COSM4130246|COSM4130246|COSM4130246 Thyroid|Liver|Large intestine 0.004016|0.000422|0.000414 747|2371|2418 transversion T G T>G 0.992 -0.037 F Phe TTT 0.454 L Leu TTG 0.127 388 13 9 Fruitfly 1 0 0 0 0 5.II 4.IX 132 111 22 C0 353.86 0.00 Tolerated 1 3.I 255 PASS . . . . . . . . . . . . . . . . 0.76842105 . . @ 73 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.775 . @ . . . . . 1 0.788 . . 95.0 . . . . . . . . . . -0.0112 -0.045 -0.011 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.712 . . exonic exonic exonic . . 0.103 @ . . . 0.51 0.49 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.729 0.078 . . 37 . 0.657 . . 0.623 . . . 0.488 0.530 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.716 . . 0 0 0 0 0 0 . 0.512 . . 0.473 . . . . . . 0 0.395 . . . . . 0.402 . 0.840 . HOM 0 rs1141701 . . . . . . . . . . . . IX.29 . . V.59 -0.796 . 0.220000 . . . . . . 0.715 . . . . . . . . . . . . . . . . . . . . . . 0.988 . -0.182 -0.182000 . . 0.220000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.291 . 0.263 -0.182 0.090 . rs1141701 rs1141701 rs1141701 rs1141701 1 1538 10 1/0 0,255,252 +rs77440865 17 45221286 C T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221286 45221286 Chr17(GRCh37):g.45221286C>T 1151 1151 NM_001114091.3:c.1151G>A p.Ser384Asn p.Ser384Asn 10 116946 -38 5' 87.3006 8.82915 0.978094 3.96241 87.3006 8.82915 0.978094 4.02773 0 Cryptic Acceptor Weakly Activated 45221267 1.23935 0.013237 70.1401 1.73576 0.014514 70.1401 rs77440865 yes no Frequency 1 C 0.000000 0 0.000813 0.000050 0.002699 0.000685 0.000543 0.002146 0.000452 0.000408 0.000200 0.002699 185 1 61 6 7 49 50 10 1 227484 20192 22600 8760 12892 22834 110674 24534 4998 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 185 1 61 6 7 49 50 10 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM304850|COSM304850|COSM304850 Thyroid|Prostate|Large intestine 0.002677|0.000567|0.000414 747|1764|2418 transition G A G>A 1.000 5.451 S Ser AGT 0.149 N Asn AAT 0.464 384 13 10 C. elegans 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 353.86 0.00 Tolerated 0.07 3.I 255 PASS . . . . . . . . . . . . . . . . 0.75609756 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.922 . @ . . . . . 1 0.756 . . 82.0 . . . . . . . . . . 0.7841 0.779 0.784 c . . . . . 4.578e-04 . . . 0.0003 0.0003 0.0004 0.0005 0.0003 0.0002 0 0.0004 0.0003 0.0003 0.0005 0.0004 0.0003 0.0003 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.820 . . exonic exonic exonic . . 0.846 @ . . . 0.58 0.56 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.777 0.102 . . 37 . 0.895 . . 0.902 . . . 0.728 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.543 . . 0 0 0 0 0 0 . 0.715 . . 0.617 . . . . . . 0 0.912 . . . . . 0.864 . 0.513 . HOM 0 rs77440865 . . . . . . . . . . . . 17.0697 . . V.59 V.59 . 0.030000 . . . . . . 0.950 . . V.59 8.699e-05 0.0009 0.0028 0.0007 0.0006 0.0003 0.0005 0.0002 0.0021 0 9.778e-05 0 0 0 0.0009 0 0 . . 0.988 . 2.635 2.635000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.822 . 0.490 2.635 0.871 . . . rs77440865 rs77440865 1 1538 10 1/0 0,255,255 +rs76836956 17 45221303 G A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45221303 45221303 Chr17(GRCh37):g.45221303G>A 1134 1134 NM_001114091.3:c.1134C>T p.Asn378= p.Asn378Asn 10 116946 46 3' 86.0437 7.22637 0.895153 5.01943 86.0437 7.22637 0.895153 4.53814 0 rs76836956 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000843 0.000100 0.002735 0.000923 0.000316 0.002353 0.000492 0.000328 0.000000 0.002735 190 2 61 8 4 53 54 8 0 225298 20048 22306 8670 12660 22526 109712 24416 4960 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 190 2 61 8 4 53 54 8 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4130250|COSM4130250 Thyroid|Thymus 0.002677|0.006579 747|152 transition C T C>T 0.953 -0.360 N Asn AAC 0.536 N Asn AAT 0.464 378 255 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.81395346 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . 0.8902 . . . . . . . . 2.368e-04 . . . 0.0002 0.0001 8.983e-05 0 0.0003 7.411e-05 0 0.0001 0.0002 0.0001 9.251e-05 0 0.0002 9.517e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.54 0.48 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs76836956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.812e-05 0.0010 0.0028 0.0010 0.0004 0.0002 0.0006 0 0.0024 0.0001 0.0001 0 0 0 0.0009 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1064548 rs1064548 rs76836956 rs76836956 1 1538 10 1/0 0,255,255 +rs79454290 17 45221317 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221317 45221317 Chr17(GRCh37):g.45221317T>C 1120 1120 NM_001114091.3:c.1120A>G p.Thr374Ala p.Thr374Ala 10 116946 32 3' 86.0437 7.22637 0.895153 5.01943 86.0437 7.22637 0.895153 5.63661 0 rs79454290 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 203166 11372 24286 9032 11322 24496 96970 21444 4244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 47 Exomes COSM2155332 Central nervous system 0.000416 2405 transition A G A>G 1.000 0.609 T Thr ACA 0.280 A Ala GCA 0.226 374 13 5 Dog 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.54 3.I 255 PASS . . . . . . . . . . . . . . . . 0.84810126 . . @ 67 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.070 . . 79.0 . . . . . . . . . . -1.0511 -0.805 -1.051 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.658 . . exonic exonic exonic . . 0.310 @ . . . 0.62 0.52 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.497 . . . . T 0.177 0.007 . . 37 . 0.293 . . 0.207 . . . 0.014 0.248 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.027 . . . . . 0.239 . 0.472 . HOM 0.47 rs79454290 . . . . . . . . . . . . 7.0206 . . V.29 II.71 . 0.660000 . . . . . . 0.513 . . II.71 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.988 . 0.397 0.397000 . . 0.660000 . . 1.0E-255 1.000 0.715 . 0.463 0.988 . 0.498 . 0.100 0.397 0.079 . . . rs79454290 rs79454290 1 1538 10 1/0 0,255,255 +rs77739281 17 45221318 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45221318 45221318 Chr17(GRCh37):g.45221318A>C 1119 1119 NM_001114091.3:c.1119T>G p.Ile373Met p.Ile373Met 10 116946 31 3' 86.0437 7.22637 0.895153 5.01943 86.0437 7.22637 0.895153 6.23286 0 rs77739281 yes no Frequency 1 A 0.000000 0 0.001249 0.000101 0.004168 0.001654 0.000588 0.003257 0.000680 0.000453 0.001657 0.004168 274 2 88 14 7 71 73 11 8 219408 19750 21114 8464 11898 21800 107296 24258 4828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 274 2 88 14 7 71 73 11 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM2155296|COSM2155296|COSM2155296|COSM2155296 Thyroid|Liver|Central nervous system|Bone 0.001339|0.000422|0.000416|0.001757 747|2371|2405|569 transversion T G T>G 0.992 0.205 I Ile ATT 0.356 M Met ATG 1.000 373 13 8 Zebrafish 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Deleterious 0.05 3.I 255 PASS . . . . . . . . . . . . . . . . 0.85714287 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.220 . @ . . . . . 1 0.141 . . 84.0 . . . . . . . . . . -0.3985 -0.269 -0.399 c . . . . . 3.789e-04 . . . 0.0002 0.0002 0.0003 0 0.0003 0.0002 0 6.569e-05 0.0002 0.0002 0.0003 0 0.0002 0.0002 0 6.607e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.659 . . exonic exonic exonic . . 0.216 @ . . . 0.58 0.46 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.240 0.009 . . 37 . 0.413 . . 0.224 . . . 0.094 0.508 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.154 . . 0 0 0 0 0 0 . 0.198 . . 0.145 . . . . . . 0 0.341 . . . . . 0.059 . 0.622 . HOM 0.13 rs77739281 . . . . . . . . . . . . 3.0877 . . V.29 I.45 . 0.120000 . . . . . . 0.567 . . . 0.0002 0.0014 0.0043 0.0017 0.0007 0.0004 0.0008 0.0021 0.0033 0 6.515e-05 0 0 0 0.0006 0 0 . . 0.988 . 0.556 0.556000 . . 0.120000 . . 1.0E-255 1.000 0.715 . 0.461 0.987 . 0.393 . 0.057 0.556 -0.598 . . . rs77739281 rs77739281 1 1538 10 1/0 0,255,253 +rs200834582 17 45229253 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45229253 45229253 Chr17(GRCh37):g.45229253T>G 1007 1007 NM_001114091.3:c.1007A>C p.Lys336Thr p.Lys336Thr 9 116946 50 3' 65.6713 2.11303 0.027872 0 65.6713 2.11303 0.027872 0 0 Cryptic Donor Strongly Activated 45229253 0.014255 67.5011 1.46272 0.033258 66.3261 rs200834582 no no 0 T 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000034 0.000000 0.000000 0.000190 0.000034 2 0 0 0 0 1 0 0 1 241478 15164 31558 9820 17018 29330 111058 22264 5266 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 RF 58 Exomes COSM6264105|COSM6264105 Liver|Large intestine 0.000422|0.000414 2371|2418 transversion A C A>C 1.000 3.837 K Lys AAG 0.575 T Thr ACG 0.116 336 13 10 Baker's yeast -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 353.86 0.00 Deleterious 0.04 3.I 255 PASS . . . . . . . . . . . . . . . . 0.64705884 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.594 . @ . . . . . 1 0.780 . . 68.0 . . . . . . . . . . 0.2890 0.407 0.289 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.692 . . exonic exonic exonic . . 0.817 @ . . . 0.38 0.55 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.479 0.025 . . 37 . 0.572 . . 0.556 . . . 0.562 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.489 . . 0.465 . . . . . . 0 0.546 . . . . . 0.615 . 0.837 . HET 0.15 rs200834582 . . . . . . . . . . . . 13.6227 . . V.51 V.51 . 0.320000 . . . . . . 0.745 . . V.51 0 8.282e-06 0 0 0 0 0 0.0002 3.409e-05 . . . . . . . . . . 0.730 . 2.110 2.110000 . . 0.320000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.764 . 0.624 2.110 0.991 . . . rs200834582 rs200834582 1 1538 10 1/0 0,255,255 +rs201804958 17 45229254 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45229254 45229254 Chr17(GRCh37):g.45229254T>G 1006 1006 NM_001114091.3:c.1006A>C p.Lys336Gln p.Lys336Gln 9 116946 49 3' 65.6713 2.11303 0.027872 0 65.6713 2.11303 0.027872 0 0 Cryptic Acceptor Weakly Activated 45229236 7.18993 0.882068 86.5054 8.61246 0.937881 86.5054 rs201804958 no no 0 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000190 0.000000 1 0 0 0 0 0 0 0 1 241578 15182 31568 9816 17040 29344 111088 22264 5276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 58 Exomes transversion A C A>C 1.000 3.837 K Lys AAG 0.575 Q Gln CAG 0.744 336 13 10 Baker's yeast 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 353.86 0.00 Tolerated 0.08 3.I 255 PASS . . . . . . . . . . . . . . . . 0.6376812 . . @ 44 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.382 . @ . . . . . 1 0.366 . . 69.0 . . . . . . . . . . 0.2073 0.337 0.207 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.689 . . exonic exonic exonic . . 0.817 @ . . . 0.38 0.55 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.445 0.022 . . 37 . 0.572 . . 0.556 . . . 0.339 0.537 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.322 . . 0 0 0 0 0 0 . 0.489 . . 0.465 . . . . . . 0 0.512 . . . . . 0.615 . 0.791 . HET 0.24 rs201804958 . . . . . . . . . . . . 13.6227 . . V.51 V.51 . 0.320000 . . . . . . 0.693 . . V.51 0 4.139e-06 0 0 0 0 0 0.0002 0 . . . . . . . . . . 0.730 . 2.110 2.110000 . . 0.320000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.686 . 0.624 2.110 0.991 . . . rs201804958 rs201804958 1 1538 10 1/0 0,255,255 +rs111414808 17 45229261 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45229261 45229261 Chr17(GRCh37):g.45229261A>G 999 999 NM_001114091.3:c.999T>C p.Thr333= p.Thr333Thr 9 116946 42 3' 65.6713 2.11303 0.027872 0 65.6713 2.11303 0.027872 0 0 rs111414808 yes no Frequency 1 A 0.000000 0 0.000040 0.000000 0.000000 0.000000 0.000000 0.000171 0.000032 0.000000 0.000320 0.000171 11 0 0 0 0 5 4 0 2 272356 23924 32338 10114 18642 29268 126058 25758 6254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 5 4 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4130252|COSM4130252 Thyroid|Liver 0.001339|0.000844 747|2371 transition T C T>C 1.000 0.932 T Thr ACT 0.243 T Thr ACC 0.361 333 255 PASS . . . . . . . . . . . . . . . . 0.6197183 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 71.0 . . . . . . . . . . I.54 . . . . . . . . 3.157e-05 . . . 0 4.419e-05 0 0 0 7.132e-05 0 6.106e-05 0 1.887e-05 0 0 0 1.842e-05 0 6.141e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.5 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111414808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.43 0 4.143e-05 0 0 0 0 2.701e-05 0.0004 0.0002 0 3.229e-05 0 0 0 0 6.663e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs111414808 rs111414808 1 1538 10 1/0 0,255,255 +rs62077263 17 45234298 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234298 45234298 Chr17(GRCh37):g.45234298G>C 823 823 NM_001114091.3:c.823C>G p.Leu275Val p.Leu275Val 7 116946 -20 5' 99.6933 X.84 0.99854 1.07431 99.6933 X.84 0.99854 0.480636 0 rs62077263 no no 0 G 0.000000 0 0.000025 0.000000 0.000000 0.000000 0.000000 0.000067 0.000009 0.000091 0.000185 0.000091 6 0 0 0 0 2 1 2 1 243148 15206 33022 9700 17154 29926 110656 22074 5410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 2 1 2 1 0 0 0 0 0 0 0 0 0 RF 53 Exomes COSM4130254|COSM4130254|COSM4130254 Thyroid|Liver|Large intestine 0.004016|0.001265|0.000414 747|2371|2418 transversion C G C>G 1.000 5.129 L Leu CTT 0.129 V Val GTT 0.178 275 13 8 Zebrafish 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Tolerated 0.69 3.I 255 PASS . . . . . . . . . . . . . . . . 0.65384614 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.363 . @ . . . . . 1 0.586 . . 78.0 . . . . . . . . . . 0.3692 0.458 0.369 c . . . . . 2.368e-05 . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.864 @ . . . 0.6 0.67 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.499 0.027 . . 37 . 0.693 . . 0.629 . . . 0.543 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.689 . . 0.660 . . . . . . 0 0.363 . . . . . 0.867 . 0.737 . HET 0.07 rs62077263 . . . . . . . . . . . . 17.2083 . . V.64 V.64 . 0.510000 . . . . . . 0.769 . . V.64 0 2.468e-05 0 0 0 9.06e-05 9.037e-06 0.0002 6.683e-05 . . . . . . . . . . 0.000 . 2.665 2.665000 . . 0.510000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.631 . 0.613 2.665 0.917 . rs62077263 rs62077263 rs62077263 rs62077263 1 1538 10 1/0 0,255,255 +rs113206140 17 45234331 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234331 45234331 Chr17(GRCh37):g.45234331T>G 790 790 NM_001114091.3:c.790A>C p.Thr264Pro p.Thr264Pro 7 116946 -53 5' 99.6933 X.84 0.99854 1.07431 99.6933 X.84 0.99854 1.29825 0 rs113206140 no no 0 T 0.000000 0 COSM4130256|COSM4130256|COSM4130256 Thyroid|Stomach|Large intestine 0.001339|0.001161|0.000414 747|861|2418 transversion A C A>C 1.000 4.241 T Thr ACT 0.243 P Pro CCT 0.283 264 13 8 C. elegans -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Deleterious 0.05 3.I 228 PASS . . . . . . . . . . . . . . . . 0.23655914 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.370 . @ . . . . . 1 0.363 . . 93.0 . . . . . . . . . . -0.0479 0.184 -0.048 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.674 . . exonic exonic exonic . . 0.864 @ . . . 0.62 0.68 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.441 0.021 . . 37 . 0.440 . . 0.473 . . . 0.046 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.082 . . 0 0 0 0 0 0 . 0.360 . . 0.316 . . . . . . 0 0.276 . . . . . 0.626 . 0.787 . HET 0.04 rs113206140 . . . . . . . . . . . . 13.8182 . . V.64 V.64 . 0.310000 . . . . . . 0.811 . . V.64 . . . . . . . . . . . . . . . . . . . 0.820 . 2.153 2.153000 . . 0.310000 . . 1.0E-228 1.000 0.715 . 0.888 1.000 . 0.804 . 0.635 2.153 0.991 . . . rs113206140 rs113206140 1 1538 10 1/0 0,241,255 +rs3208659 17 45234343 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234343 45234343 Chr17(GRCh37):g.45234343T>G 778 778 NM_001114091.3:c.778A>C p.Asn260His p.Asn260His 7 116946 -65 5' 99.6933 X.84 0.99854 1.07431 99.6933 X.84 0.99854 1.53521 0 rs3208659 no no 0 T 0.000000 0 COSM4130258|COSM4130258|COSM4130258 Upper aerodigestive tract|Thyroid|Liver 0.000804|0.001339|0.001687 1244|747|2371 transversion A C A>C 1.000 4.241 N Asn AAT 0.464 H His CAT 0.413 260 13 8 Zebrafish 1 1 1 I.33 0.58 11.VI 10.IV 56 96 68 C0 353.86 0.00 Tolerated 0.26 3.I 255 PASS . . . . . . . . . . . . . . . . 0.93203884 . . @ 96 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.539 . @ . . . . . 1 0.455 . . 103.0 . . . . . . . . . . 0.3776 0.484 0.378 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.672 . . exonic exonic exonic . . 0.864 @ . . . 0.61 0.68 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.559 . . . . D 0.591 0.040 . . 37 . 0.566 . . 0.584 . . . 0.552 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.227 . . 0 0 0 0 0 0 . 0.516 . . 0.470 . . . . . . 0 0.416 . . . . . 0.626 . 0.637 . HOM 0.07 rs3208659 . . . . . . . . . . . . 13.8182 . . V.64 V.64 . 0.180000 . . . . . . 0.811 . . V.64 . . . . . . . . . . . . . . . . . . . 0.820 . 2.153 2.153000 . . 0.180000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.804 . 0.635 2.153 0.991 . rs3208659 rs3208659 rs3208659 rs3208659 1 1538 10 1/0 0,247,244 +rs75241171 17 45234434 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45234434 45234434 Chr17(GRCh37):g.45234434A>G 687 687 NM_001114091.3:c.687T>C p.Asp229= p.Asp229Asp 7 116946 57 3' 96.9875 7.74155 0.740611 0 96.9875 7.74155 0.740611 0 0 rs75241171 no no 0 A 0.000000 0 COSM4130268 Thyroid 0.001339 747 transition T C T>C 1.000 1.174 D Asp GAT 0.461 D Asp GAC 0.539 229 255 PASS . . . . . . . . . . . . . . . . 0.875 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . I.30 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.64 0.64 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs75241171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75241171 rs75241171 1 1538 10 1/0 0,255,255 +rs77095606 17 45234477 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234477 45234477 Chr17(GRCh37):g.45234477A>C 644 644 NM_001114091.3:c.644T>G p.Leu215Trp p.Leu215Trp 7 116946 14 3' 96.9875 7.74155 0.740611 0 96.9875 7.74155 0.69877 0 -0.0188317 rs77095606 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30976 8734 838 302 1620 0 15006 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes COSM4130270|COSM4130270|COSM4130270|COSM4130270 Thyroid|Lung|Liver|Bone 0.002677|0.000418|0.000844|0.001757 747|2390|2371|569 transversion T G T>G 1.000 4.322 L Leu TTG 0.127 W Trp TGG 1.000 215 13 7 Zebrafish -2 -2 -4 0 0.13 4.IX 5.IV 111 170 61 C0 353.86 0.00 Deleterious 0.03 III.38 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 12 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.514 . @ . . . . . 1 0.209 . . 34.0 . . . . . . . . . . 0.5016 0.601 0.502 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.679 . . exonic exonic exonic . . 0.927 @ . . . 0.61 0.65 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.376 . . . . D 0.511 0.028 . . 37 . 0.672 . . 0.716 . . . 0.552 0.548 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.334 . . 0 0 0 0 0 0 . 0.689 . . 0.627 . . . . . . 0 0.365 . . . . . 0.648 . 0.907 . HET 0.03 rs77095606 . . . . . . . . . . . . 14.1506 . . V.82 V.82 . 0.020000 . . . . . . 0.869 . . V.82 . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.547 . 2.227 2.227000 . . 0.020000 . . 1.0E-255 1.000 0.715 . 0.750 1.000 . 0.912 . 0.911 2.227 1.062 . . . rs77095606 rs77095606 1 1538 10 1/0 0,255,255 +rs78043820 17 45234481 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234481 45234481 Chr17(GRCh37):g.45234481T>C 640 640 NM_001114091.3:c.640A>G p.Arg214Gly p.Arg214Gly 7 116946 10 3' 96.9875 7.74155 0.740611 0 96.9875 7.74155 0.794951 0 0.0244573 Cryptic Acceptor Strongly Activated 45234468 0.000176 2.53116 0.000366 63.388 rs78043820 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30978 8736 838 302 1622 0 15008 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes COSM4130272|COSM4130272|COSM4130272 Thyroid|Liver|Bone 0.001339|0.000422|0.001757 747|2371|569 transition A G A>G 1.000 2.788 R Arg AGA 0.205 G Gly GGA 0.246 214 13 8 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Tolerated 0.17 III.38 235 PASS . . . . . . . . . . . . . . . . 0.2647059 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.789 . . 34.0 . . . . . . . . . . -0.0764 0.154 -0.076 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.668 . . exonic exonic exonic . . 0.927 @ . . . 0.58 0.68 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.551 0.033 . . 37 . 0.493 . . 0.476 . . . 0.409 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.090 . . 0 0 0 0 0 0 . 0.297 . . 0.267 . . . . . . 0 0.098 . . . . . 0.648 . 0.968 . HET 0.3 rs78043820 . . . . . . . . . . . . 14.1506 . . V.82 V.82 . 0.450000 . . . . . . 0.654 . . V.82 . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.547 . 2.227 2.227000 . . 0.450000 . . 1.0E-235 1.000 0.715 . 0.888 1.000 . 0.698 . 0.757 2.227 0.991 . . . rs78043820 rs78043820 1 1538 10 1/0 0,255,255 +rs75204938 17 45234486 A C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution stop gain exon GRCh37 45234486 45234486 Chr17(GRCh37):g.45234486A>C 635 635 NM_001114091.3:c.635T>G p.Leu212* p.Leu212* 7 116946 5 3' 96.9875 7.74155 0.740611 0 96.9875 7.74155 0.771398 0 0.0138566 rs75204938 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30980 8736 838 302 1620 0 15008 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Genomes COSM4130274|COSM4130274|COSM4130274 Thyroid|Liver|Large intestine 0.001339|0.000422|0.000414 747|2371|2418 transversion T G T>G 1.000 2.707 L Leu TTA 0.073 * * TGA 0.489 212 226 PASS . . . . . . . . . . . . . . . . 0.23529412 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.974 . @ . . . . . 0 0.468 . . 34.0 . . . . . . . . . . 0.9651 0.852 0.965 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.927 @ . . . 0.59 0.66 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.504 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.648 . . . HET 0.12 rs75204938 . . . . . . . . . . . . 14.1506 . . V.82 V.82 . 0.710000 . . . . . . 0.744 . . V.82 . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.547 . 2.227 2.227000 . . 0.710000 . . 1.0000000000000001E-226 1.000 0.715 . 0.888 1.000 . 0.747 . 0.911 2.227 1.062 . . . rs75204938 rs75204938 1 1538 10 1/0 0,255,255 +rs149474782 17 45234685 G A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234685 45234685 Chr17(GRCh37):g.45234685G>A 541 541 NM_001114091.3:c.541C>T p.Pro181Ser p.Pro181Ser 6 116946 66 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.4961 0 rs149474782 no no 0 G 0.000000 0 COSM5453096 Large intestine 0.000414 2418 transition C T C>T 1.000 3.192 P Pro CCC 0.328 S Ser TCC 0.220 181 13 7 Frog -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.57 III.53 233 PASS . . . . . . . . . . . . . . . . 0.25714287 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.193 . @ . . . . . 1 0.173 . . 35.0 . . . . . . . . . . -0.1750 0.056 -0.175 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.667 . . exonic exonic exonic . . 0.775 @ . . . 0.65 0.56 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.165 0.006 . . 37 . 0.495 . . 0.459 . . . 0.082 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.024 . . 0 0 0 0 0 0 . 0.102 . . 0.093 . . . . . . 0 0.042 . . . . . 0.850 . 0.570 . HET 0.48 rs149474782 0.043 0.036 . . . . . . . . . . 16.6644 . . V.39 V.39 . 0.740000 . . . . . . 0.520 . . V.39 . . . . . . . . . . . . . . . . . . . 0.547 . 2.538 2.538000 . . 0.740000 . . 1.0000000000000001E-233 1.000 0.715 . 0.604 0.998 . 0.614 . 0.665 2.538 0.917 0.043 . . rs149474782 rs149474782 1 1538 10 1/0 0,255,255 +rs140171160 17 45234689 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45234689 45234689 Chr17(GRCh37):g.45234689A>G 537 537 NM_001114091.3:c.537T>C p.Cys179= p.Cys179Cys 6 116946 62 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.5039 0 rs140171160 no no 0 A 0.000000 0 COSM5453098|COSM5453098 Liver|Large intestine 0.000422|0.000414 2371|2418 transition T C T>C 1.000 2.627 C Cys TGT 0.448 C Cys TGC 0.552 179 235 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . II.42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.64 0.57 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140171160 0.043 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . IV.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . 0.043 rs1058520 rs1058520 rs140171160 rs140171160 1 1538 10 1/0 0,255,255 +rs147617501 17 45234702 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234702 45234702 Chr17(GRCh37):g.45234702T>C 524 524 NM_001114091.3:c.524A>G p.Asn175Ser p.Asn175Ser 6 116946 49 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.2876 0 rs147617501 no no 0 T 0.000000 0 COSM5763793 Large intestine 0.000414 2418 transition A G A>G 1.000 3.999 N Asn AAC 0.536 S Ser AGC 0.243 175 13 8 Zebrafish 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 353.86 0.00 Tolerated 0.54 III.53 255 PASS . . . . . . . . . . . . . . . . 0.45614034 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.170 . @ . . . . . 1 0.215 . . 57.0 . . . . . . . . . . -0.2165 0.019 -0.216 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.685 . . exonic exonic exonic . . 0.775 @ . . . 0.64 0.56 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.236 0.009 . . 37 . 0.470 . . 0.420 . . . 0.440 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.273 . . 0 0 0 0 0 0 . 0.112 . . 0.158 . . . . . . 0 0.143 . . . . . 0.600 . 0.396 . HET 0.3 rs147617501 0.315 0.268 . . . . . . . . . . 13.3763 . . V.39 V.39 . 0.760000 . . . . . . 0.592 . . V.39 . . . . . . . . . . . . . . . . . . . 0.547 . 2.053 2.053000 . . 0.760000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.657 . 0.757 2.053 0.991 0.32 rs1058509 rs1058509 rs147617501 rs147617501 1 1538 10 1/0 0,255,255 +rs143453365 17 45234706 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234706 45234706 Chr17(GRCh37):g.45234706G>C 520 520 NM_001114091.3:c.520C>G p.Gln174Glu p.Gln174Glu 6 116946 45 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.4385 0 New Acceptor Site 45234705 5.52865 0.0941 74.6552 rs143453365 no no 0 G 0.000000 0 COSM4188746|COSM4188746 Large intestine|Kidney 0.000414|0.000524 2418|1909 transversion C G C>G 1.000 4.806 Q Gln CAG 0.744 E Glu GAG 0.583 174 13 8 Zebrafish 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 353.86 0.00 Tolerated 0.77 III.53 255 PASS . . . . . . . . . . . . . . . . 0.4642857 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.102 . @ . . . . . 1 0.183 . . 56.0 . . . . . . . . . . -0.1243 0.130 -0.124 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.659 . . exonic exonic exonic . . 0.775 @ . . . 0.64 0.55 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.283 0.011 . . 37 . 0.421 . . 0.384 . . . 0.430 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.035 . . 0 0 0 0 0 0 . 0.154 . . 0.127 . . . . . . 0 0.128 . . . . . 0.850 . 0.568 . HET 0.7 rs143453365 0.457 0.406 . . . . . . . . . . 16.6644 . . V.39 V.39 . 1.000000 . . . . . . 0.786 . . V.39 . . . . . . . . . . . . . . . . . . . 0.988 . 2.538 2.538000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.922 . 0.665 2.538 0.917 0.46 rs1058505 rs1058505 rs143453365 rs143453365 1 1538 10 1/0 0,255,255 +rs142987740 17 45234709 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45234709 45234709 Chr17(GRCh37):g.45234709A>G 517 517 NM_001114091.3:c.517T>C p.Leu173= p.Leu173Leu 6 116946 42 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.9862 0 rs142987740 no no 0 A 0.000000 0 COSM5453100 Large intestine 0.000827 2418 transition T C T>C 0.992 0.205 L Leu TTA 0.073 L Leu CTA 0.070 173 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . II.65 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.63 0.48 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142987740 0.457 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . II.66 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs1058499 rs1058499 rs142987740 rs142987740 1 1538 10 1/0 0,255,255 +rs139751753 17 45234713 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45234713 45234713 Chr17(GRCh37):g.45234713T>G 513 513 NM_001114091.3:c.513A>C p.Thr171= p.Thr171Thr 6 116946 38 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.4475 0 Cryptic Acceptor Weakly Activated 45234703 7.38479 0.92219 85.2751 8.193 0.971606 85.6499 rs139751753 yes no Frequency 1 T 0.000000 0 COSM5453102 Large intestine 0.000414 2418 transversion A C A>C 1.000 0.286 T Thr ACA 0.280 T Thr ACC 0.361 171 255 PASS . . . . . . . . . . . . . . . . 0.37096775 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . II.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.65 0.55 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.457 0.406 . . . . . . . . . . . . . . . . . . . . . . . . . . III.15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 rs1058494 rs1058494 . . 1 1538 10 1/0 0,255,255 +rs202182614 17 45234720 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45234720 45234720 Chr17(GRCh37):g.45234720T>C 506 506 NM_001114091.3:c.506A>G p.Lys169Arg p.Lys169Arg 6 116946 31 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 13.4836 0 rs202182614 no no 0 T 0.000000 0 COSM5453104 Large intestine 0.000414 2418 transition A G A>G 1.000 2.546 K Lys AAA 0.425 R Arg AGA 0.205 169 13 7 Frog 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 0.39 III.38 255 PASS . . . . . . . . . . . . . . . . 0.3939394 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.528 . . 66.0 . . . . . . . . . . -0.3099 -0.043 -0.310 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.683 . . exonic exonic exonic . . 0.775 @ . . . 0.66 0.54 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.163 0.006 . . 37 . 0.396 . . 0.359 . . . 0.031 0.451 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.150 . . 0 0 0 0 0 0 . 0.131 . . 0.112 . . . . . . 0 0.269 . . . . . 0.600 . 0.437 . HET 0.27 rs202182614 . . . . . . . . . . . . 13.3763 . . V.39 V.39 . 0.540000 . . . . . . 0.455 . . V.39 . . . . . . . . . . . . . . . . . . . 0.547 . 2.053 2.053000 . . 0.540000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.583 . 0.757 2.053 0.991 . . . rs202182614 rs202182614 1 1538 10 1/0 0,255,255 +rs199899451 17 45234721 T A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution stop gain exon GRCh37 45234721 45234721 Chr17(GRCh37):g.45234721T>A 505 505 NM_001114091.3:c.505A>T p.Lys169* p.Lys169* 6 116946 30 3' 95.9388 XII.89 0.998425 13.3927 95.9388 XII.89 0.998425 XII.32 0 rs199899451 no no 0 T 0.000000 0 COSM5453106 Large intestine 0.000414 2418 transversion A T A>T 1.000 3.999 K Lys AAA 0.425 * * TAA 0.277 169 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 26 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.966 . @ . . . . . 0 0.730 . . 64.0 . . . . . . . . . . 0.8897 0.772 0.890 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . 0.775 @ . . . 0.65 0.54 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.600 . . . HET 0.02 rs199899451 . . . . . . . . . . . . 13.3763 . . V.39 V.39 . 1.000000 . . . . . . 0.718 . . V.39 . . . . . . . . . . . . . . . . . . . 0.547 . 2.053 2.053000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.767 . 0.757 2.053 0.991 . . . rs199899451 rs199899451 1 1538 10 1/0 0,255,255 +rs62077268 17 45249365 C T - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45249365 45249365 Chr17(GRCh37):g.45249365C>T 169 169 NM_001114091.3:c.169G>A p.Ala57Thr p.Ala57Thr 3 116946 66 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 rs62077268 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 237284 14796 31352 9676 16770 28970 108648 21836 5236 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 43 Exomes COSM4268108|COSM4268108 Liver|Large intestine 0.001687|0.000414 2371|2418 transition G A G>A 1.000 5.532 A Ala GCA 0.226 T Thr ACA 0.280 57 13 10 Baker's yeast 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Deleterious 0.03 3.I 255 PASS . . . . . . . . . . . . . . . . 0.54347825 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.839 . @ . . . . . 1 0.965 . . 46.0 . . . . . . . . . . 0.6815 0.723 0.682 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.869 . . exonic exonic exonic . . 0.883 @ . . . 0.53 0.44 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.787 0.109 . . 37 . 0.884 . . 0.888 . . . 0.738 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.522 . . 0 0 0 0 0 0 . 0.581 . . 0.545 . . . . . . 1 0.330 . . . . . 0.870 . 0.901 . HET 0.13 rs62077268 . . . . . . . . . . . . 17.2887 . . V.69 V.69 . 0.050000 . . . . . . 0.920 . . V.69 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.820 . 2.691 2.691000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.864 . 0.403 2.691 0.871 . rs1058176 rs1058176 rs62077268 rs62077268 1 1538 10 1/0 0,255,255 +rs62077269 17 45249372 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45249372 45249372 Chr17(GRCh37):g.45249372T>G 162 162 NM_001114091.3:c.162A>C p.Ala54= p.Ala54Ala 3 116946 59 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 rs62077269 yes no Frequency 1 T 0.000000 0 0.000113 0.000044 0.000032 0.000000 0.000000 0.000036 0.000169 0.000210 0.000166 0.000210 29 1 1 0 0 1 20 5 1 257502 22940 30888 9744 17696 27888 118490 23842 6014 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 1 1 0 0 1 20 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4130300|COSM4130300 Thyroid|Liver 0.002677|0.001687 747|2371 transversion A C A>C 0.976 -0.198 A Ala GCA 0.226 A Ala GCC 0.403 54 255 PASS . . . . . . . . . . . . . . . . 0.5294118 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . I.98 . . . . . . . . 8.841e-04 . . . 0.0007 0.0005 0.0006 0.0004 0.0003 0.0006 0 0.0003 0.0005 0.0005 0.0005 0.0005 0.0002 0.0006 0 0.0003 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.36 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62077269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.029e-05 0.0001 3.325e-05 0 0 0.0002 0.0002 0.0002 3.586e-05 0 6.551e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1058163 rs1058163 rs62077269 rs62077269 1 1538 10 1/0 0,255,255 +rs62077270 17 45249391 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45249391 45249391 Chr17(GRCh37):g.45249391T>G 143 143 NM_001114091.3:c.143A>C p.Tyr48Ser p.Tyr48Ser 3 116946 40 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 Cryptic Acceptor Strongly Activated 45249379 4.78819 0.510253 85.8728 6.94595 0.817249 88.6834 rs62077270 no no 0 T 0.000000 0 COSM4130302|COSM4130302 Thyroid|Liver 0.002677|0.000844 747|2371 transversion A C A>C 1.000 4.483 Y Tyr TAT 0.438 S Ser TCT 0.185 48 13 9 Fruitfly -2 -2 -3 0.2 I.42 6.II 9.II 136 32 144 C0 353.86 0.00 Deleterious 0.02 3.I 255 PASS . . . . . . . . . . . . . . . . 0.4716981 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.921 . @ . . . . . 1 0.518 . . 53.0 . . . . . . . . . . 0.7830 0.772 0.783 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.754 . . exonic exonic exonic . . 0.883 @ . . . 0.48 0.39 182 ENSG00000004897 CDC27 CDC27 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.821 0.138 . . 37 . 0.836 . . 0.848 . . . 0.655 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.962 . . 0 0 0 0 0 0 . 0.764 . . 0.682 . . . . . . 1 0.912 . . . . . 0.630 . 0.964 . HET 0 rs62077270 . . . . . . . . . . . . 13.8831 . . V.69 V.69 . 0.060000 . . . . . . 0.931 . . V.69 . . . . . . . . . . . . . . . . . . . 0.820 . 2.173 2.173000 . . 0.060000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.886 . 0.635 2.173 0.991 . rs62077270 rs62077270 rs62077270 rs62077270 1 1538 10 1/0 0,255,255 +rs62077271 17 45249399 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45249399 45249399 Chr17(GRCh37):g.45249399T>C 135 135 NM_001114091.3:c.135A>G p.Ala45= p.Ala45Ala 3 116946 32 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 rs62077271 yes no Frequency 1 T 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000039 0.000010 0.000000 0.000000 0.000039 2 0 0 0 0 1 1 0 0 218020 13572 27480 9256 15476 25678 100458 21270 4830 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 40 Exomes COSM4130304|COSM4130304 Thyroid|Liver 0.001339|0.000844 747|2371 transition A G A>G 0.992 0.044 A Ala GCA 0.226 A Ala GCG 0.107 45 255 PASS . . . . . . . . . . . . . . . . 0.4716981 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . I.88 . . . . . . . . 1.579e-05 . . . 0 1.548e-05 0 0 0 0 0 7.769e-05 0 1.446e-05 0 0 0 0 0 7.814e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.35 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62077271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VI 0 9.173e-06 0 0 0 0 9.954e-06 0 3.894e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62077271 rs62077271 rs62077271 rs62077271 1 1538 10 1/0 0,255,255 +rs62077272 17 45249408 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution synonymous exon GRCh37 45249408 45249408 Chr17(GRCh37):g.45249408A>G 126 126 NM_001114091.3:c.126T>C p.Phe42= p.Phe42Phe 3 116946 23 3' 77.9518 6.67571 0.394623 0 77.9518 6.67571 0.394623 0 0 rs62077272 no no 0 A 0.000000 0 COSM4130306|COSM4130306 Thyroid|Liver 0.002677|0.001265 747|2371 transition T C T>C 1.000 2.950 F Phe TTT 0.454 F Phe TTC 0.546 42 255 PASS . . . . . . . . . . . . . . . . 0.4528302 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . I.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.52 0.37 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs62077272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . V.46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62077272 rs62077272 rs62077272 rs62077272 1 1538 10 1/0 0,255,255 +. 17 45266510 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution splice site GRCh37 45266510 45266510 Chr17(GRCh37):g.45266510A>G 27+2 27+2 NM_001114091.3:c.27+2T>C p.? p.? 1 1 116946 2 5' 82.5885 9.42864 0.955616 8.59626 79.4535 0 0 0 -0.67932 transition T C T>C 1.000 3.514 188 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.732 . @ . . . . . 0 0.544 . . 92.0 . . . . . . . . . . 1.0441 0.876 1.044 c . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing splicing splicing . . 0.630 @ . . . . . . ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . 0.550 . . . LowAF . . . . . . . . . . . . . . XII.94 . . IV.88 IV.88 . . . 0.9927 0.592 . . . 0.703 . . IV.88 . . . . . . . . . . . . . . . . . . . 0.024 . 2.052 2.052000 . . . . . 1.0E-188 1.000 0.715 . 0.653 0.986 . 0.733 . 0.879 2.052 1.062 . . . . . 1 1538 10 1/0 0,232,255 +rs62077279 17 45266522 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45266522 45266522 Chr17(GRCh37):g.45266522T>C 17 17 NM_001114091.3:c.17A>G p.Glu6Gly p.Glu6Gly 1 116946 -11 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.37129 0 rs62077279 no no 0 T 0.000000 0 COSM4130312|COSM4130312|COSM4130312 Upper aerodigestive tract|Thyroid|Bone 0.000804|0.002677|0.001757 1244|747|569 transition A G A>G 1.000 3.434 E Glu GAA 0.417 G Gly GGA 0.246 6 13 9 Fruitfly -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Deleterious 0.03 III.38 255 PASS . . . . . . . . . . . . . . . . 0.7966507 . . @ 333 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.740 . @ . . . . . 1 0.970 . . 418.0 . . . . . . . . . . 0.3855 0.409 0.386 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.725 . . exonic exonic exonic . . 0.589 @ . . . 0.62 0.44 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.254 . . . . D 0.882 0.229 . . 37 . 0.696 . . 0.673 . . . 0.469 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.669 . . 0 0 0 0 0 0 . 0.899 . . 0.719 . . . . . . 0 0.682 . . . . . 0.533 . 0.696 . HOM 0.01 rs62077279 . . . . . . . . . . . . 12.1792 . . IV.71 IV.71 . 0.310000 . . . . . . 0.539 . . IV.71 . . . . . . . . . . . . . . . . . . . 0.547 . 1.987 1.987000 . . 0.310000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.571 . 0.600 1.987 0.991 . rs62077279 rs62077279 rs62077279 rs62077279 1 1538 10 1/0 0,192,186 +rs62077280 17 45266535 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution missense exon GRCh37 45266535 45266535 Chr17(GRCh37):g.45266535T>C 4 4 NM_001114091.3:c.4A>G p.Thr2Ala p.Thr2Ala 1 116946 -24 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 VIII.79 0 rs62077280 no no 0 T 0.000000 0 COSM4130314|COSM4130314|COSM4130314 Thyroid|Liver|Bone 0.002677|0.000844|0.001757 747|2371|569 transition A G A>G 1.000 2.062 T Thr ACG 0.116 A Ala GCG 0.107 2 13 9 Baker's yeast 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 353.86 0.00 Tolerated 0.4 3.I 255 PASS . . . . . . . . . . . . . . . . 0.846293 . . @ 468 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.688 . @ . . . . . 1 0.665 . . 553.0 . . . . . . . . . . 0.0394 0.076 0.039 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.704 . . exonic exonic exonic . . 0.416 @ . . . 0.62 0.4 182 ENSG00000004897 CDC27 CDC27 . . . 1.0 0.983 . . . . . . . Uncertain_significance . 0 . 0.406 . . . . D 0.798 0.118 . . 37 . 0.644 . . 0.595 . . . 0.263 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.088 . . 0 0 0 0 0 0 . 0.615 . . 0.708 . . . . . . 0 0.477 . . . . . 0.333 . 0.400 . HOM 0 rs62077280 . . . . . . . . . . . . VIII.87 . . IV.78 III.71 . 0.400000 . . . . . . 0.552 . . III.71 . . . . . . . . . . . . . . . . . . . 0.547 . 0.861 0.861000 . . 0.400000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.576 . 0.600 0.861 0.991 . rs62077280 rs62077280 rs62077280 rs62077280 1 1538 10 1/0 0,178,173 +rs62077281 17 45266571 T A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266571 45266571 Chr17(GRCh37):g.45266571T>A -33 -33 NM_001114091.3:c.-33A>T p.? p.? 1 116946 -60 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.443 0 Cryptic Acceptor Strongly Activated 45266560 0.001193 4.00707 0.021424 77.1701 rs62077281 no no 0 T 0.000000 0 transversion A T A>T 1.000 1.577 255 PASS . . . . . . . . . . . . . . . . 0.6688 . . @ 418 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 625.0 . . . . . . . . . . III.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.6 0.44 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62077281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62077281 rs62077281 rs62077281 rs62077281 1 1538 10 1/0 0,182,180 +. 17 45266575 G GCACCC - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 insertion 5'UTR GRCh37 45266575 45266576 Chr17(GRCh37):g.45266575_45266576insCACCC -38 -37 NM_001114091.3:c.-38_-37insGGGTG p.? p.? 1 116946 -64 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 7.84056 0 rs780673219 yes no Frequency 1 0.000000 0 GGGTG 255 Pass . . . . . . . . . . . . . . . . 0.8166227 . . . 619 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,7,9 +rs79580708 17 45266583 T C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266583 45266583 Chr17(GRCh37):g.45266583T>C -45 -45 NM_001114091.3:c.-45A>G p.? p.? 1 116946 -72 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.79917 0 rs79580708 yes no Frequency 1 T 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000000 0.000046 0.000000 0.000000 0.000046 5 0 0 0 0 0 5 0 0 242676 14714 33478 9742 17132 30708 109554 21954 5394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes transition A G A>G 1.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.9070465 . . @ 605 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 667.0 . . . . . . . . . . II.79 . . . . . . . . 2.369e-05 . . . 0 3.464e-05 0 0 0 7.568e-05 0 0 0 9.714e-06 0 0 0 1.899e-05 0 0 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.6 0.4 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79580708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.06e-05 0 0 0 0 4.564e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79580708 rs79580708 1 1538 10 1/0 0,178,175 +rs74720779 17 45266584 G A - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266584 45266584 Chr17(GRCh37):g.45266584G>A -46 -46 NM_001114091.3:c.-46C>T p.? p.? 1 116946 -73 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.39938 0 rs74720779 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 242486 14686 33476 9732 17132 30714 109434 21920 5392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 65 Exomes transition C T C>T 1.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.84237725 . . @ 326 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 387.0 . . . . . . . . . . 3.1232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.59 0.44 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs74720779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.79 0 8.248e-06 0 0 0 0 1.828e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74720779 rs74720779 1 1538 10 1/0 0,210,206 +rs73319515 17 45266610 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266610 45266610 Chr17(GRCh37):g.45266610T>G -72 -72 NM_001114091.3:c.-72A>C p.? p.? 1 116946 -99 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 rs73319515 no no 0 G 0.000000 0 transversion A C A>C 1.000 1.335 255 PASS . . . . . . . . . . . . . . . . 0.9452381 . . @ 794 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 840.0 . . . . . . . . . . 3.0572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.63 0.48 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs73319515 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73319515 rs73319515 rs73319515 1 1538 10 1/0 0,174,171 +rs78501339 17 45266622 C G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266622 45266622 Chr17(GRCh37):g.45266622C>G -84 -84 NM_001114091.3:c.-84G>C p.? p.? 1 116946 -111 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 rs78501339 no no 0 C 0.000000 0 transversion G C G>C 1.000 2.304 255 PASS . . . . . . . . . . . . . . . . 0.9348659 . . @ 732 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 783.0 . . . . . . . . . . 3.1189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.61 0.5 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs78501339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78501339 rs78501339 1 1538 10 1/0 0,181,179 +rs143786623 17 45266623 T G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266623 45266623 Chr17(GRCh37):g.45266623T>G -85 -85 NM_001114091.3:c.-85A>C p.? p.? 1 116946 -112 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 rs143786623 no no 0 T 0.000000 0 transversion A C A>C 1.000 3.111 255 PASS . . . . . . . . . . . . . . . . 0.94095474 . . @ 749 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 796.0 . . . . . . . . . . III.00 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.63 0.51 182 ENSG00000004897 CDC27 CDC27 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs143786623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs143786623 rs143786623 1 1538 10 1/0 0,178,176 +rs796155589 17 45266631 G C - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266631 45266631 Chr17(GRCh37):g.45266631G>C -93 -93 NM_001114091.3:c.-93C>G p.? p.? 1 116946 -120 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 Cryptic Donor Strongly Activated 45266634 0.001725 58.12 0.625673 0.0175 63.6401 rs796155589 no no 0 G 0.000000 0 transversion C G C>G 1.000 1.900 255 PASS . . . . . . . . . . . . . . . . 0.94050634 . . @ 743 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 790.0 . . . . . . . . . . 3.0924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 ENST00000066544:c.-93C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.VIII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72823442 . . 1 1538 10 1/0 0,179,177 +rs796409283 17 45266632 A G - CDC27 1728 Cell division cycle 27 NM_001114091.3 -1 5898 2493 NP_001107563.1 substitution 5'UTR GRCh37 45266632 45266632 Chr17(GRCh37):g.45266632A>G -94 -94 NM_001114091.3:c.-94T>C p.? p.? 1 116946 -121 5' 82.5885 9.42864 0.955616 8.59626 82.5885 9.42864 0.955616 8.59626 0 rs796409283 no no 0 A 0.000000 0 transition T C T>C 1.000 3.111 255 PASS . . . . . . . . . . . . . . . . 0.9353562 . . @ 709 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 758.0 . . . . . . . . . . III.06 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000004897 CDC27 CDC27 ENST00000066544:c.-94T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IV.78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72823444 . . 1 1538 10 1/0 0,186,184 +. 17 45669428 T TAAA - NPEPPS 7900 Aminopeptidase puromycin sensitive NM_006310.3 1 4339 2760 NP_006301.3 P55786 duplication intron GRCh37 45669437 45669438 Chr17(GRCh37):g.45669435_45669437dup 1365+9 1365+11 NM_006310.3:c.1365+9_1365+11dup p.? p.? 11 11 606793 11 5' 82.2129 8.37568 0.961338 2.15979 82.2129 8.37568 0.961338 1.60924 0 0.000681 0.004660 0.000374 0.000000 0.000315 0.000042 0.000357 0.000251 0.000182 0.004660 160 98 10 0 5 1 39 6 1 235048 21030 26710 8738 15876 24030 109238 23920 5506 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM980461|COSM980461|COSM980461 Skin|Haematopoietic and lymphoid tissue|Endometrium 0.000812|0.000283|0.001524 1232|3530|656 AAA 255 Pass . . . . . . . . . . . . . . . . 0.39655173 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . INTRON(MODIFIER||||NPEPPS|mRNA|CODING|NM_006310|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing splicing splicing . . . . . . . . . . ENSG00000141279 NPEPPS NPEPPS . . NM_006310:exon11:c.1365+2->AAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs59875832 . . . . . . ID\x3dCOSM980461\x3bOCCURENCE\x3d1(endometrium) . . . . . . . . . . . . . . . . . . . . . . 0 4.808e-06 0 0 0 0 0 0 4.161e-05 0.0131 0.0059 0.0141 0 0.0038 0.0019 0.0029 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs59875832 rs59875832 1 1538 10 1.I 0,12,40 +rs111230318 17 45669444 A G - NPEPPS 7900 Aminopeptidase puromycin sensitive NM_006310.3 1 4339 2760 NP_006301.3 P55786 substitution intron GRCh37 45669444 45669444 Chr17(GRCh37):g.45669444A>G 1365+18 1365+18 NM_006310.3:c.1365+18A>G p.? p.? 11 11 606793 18 5' 82.2129 8.37568 0.961338 2.15979 82.2129 8.37568 0.961338 2.26773 0 rs111230318 yes no Frequency 1 A 0.000000 0 0.000267 0.001146 0.000804 0.000111 0.000253 0.000041 0.000101 0.000083 0.000000 0.001146 62 22 21 1 4 1 11 2 0 232328 19202 26104 9036 15782 24346 108416 23972 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 22 21 1 4 1 11 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 0.367 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||NPEPPS|mRNA|CODING|NM_006310|) . . . . . . . 0.3335 . . . . . . . . 9.303e-04 . . . 0.0013 0.0012 0.0072 0.0007 0.0011 0.0003 0 0.0007 0.0012 0.0010 0.0073 0.0008 0.0006 0.0003 0 0.0007 . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.14 182 ENSG00000141279 NPEPPS NPEPPS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111230318 0.283 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . 2.IV 7.99e-05 0.0001 0.0007 0.0001 0.0001 0 3.154e-05 0 4.107e-05 0.0031 0.0013 0.0028 0 0.0016 0.0006 0.0006 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . 0.28 . . rs111230318 rs111230318 1 1538 10 1.I 0,0,0 +. 17 46627641 GCT G - HOXB-AS1 43744 HOXB cluster antisense RNA 1 XR_243624.1 1 1455 0 deletion intron GRCh37 46627643 46627644 Chr17(GRCh37):g.46627643_46627644del 1310-59 1310-58 XR_243624.1:n.1310-59_1310-58del p.? p.? 4 3 -58 3' 88.3494 X.24 0.983965 X.68 88.3494 X.24 0.983965 X.94 0 rs776869808 yes no Frequency 1 0.000000 0 0.000905 0.000574 0.000000 0.000000 0.000000 0.000000 0.001468 0.000287 0.000000 0.001468 28 5 0 0 0 0 22 1 0 30926 8714 838 302 1620 0 14984 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 5 0 0 0 0 22 1 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes TC 255 Pass . . . . . . . . . . . . . . . . 0.44186047 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . HOXB-AS1 HOXB-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776869808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0009 0 0 0 0.0003 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +. 17 46627641 GCT G - HOXB3 5114 Homeobox B3 NM_002146.4 -1 3618 1296 NP_002137.4 P14651 deletion 3'UTR GRCh37 46627642 46627643 Chr17(GRCh37):g.46627642_46627643del *53 *54 NM_002146.4:c.*53_*54del p.? p.? 4 142966 901 3' 72.4509 5.65735 0.020281 7.52791 72.4509 5.65735 0.020281 7.52791 0 rs776869808 yes no Frequency 1 0.000000 0 0.000905 0.000574 0.000000 0.000000 0.000000 0.000000 0.001468 0.000287 0.000000 0.001468 28 5 0 0 0 0 22 1 0 30926 8714 838 302 1620 0 14984 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 28 5 0 0 0 0 22 1 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes AG 255 Pass . . . . . . . . . . . . . . . . 0.44186047 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . . HOXB-AS1 HOXB-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776869808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0009 0 0 0 0.0003 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +rs746864099 17 46627645 C A - HOXB-AS1 43744 HOXB cluster antisense RNA 1 XR_243624.1 1 1455 0 substitution intron GRCh37 46627645 46627645 Chr17(GRCh37):g.46627645C>A 1310-57 1310-57 XR_243624.1:n.1310-57C>A p.? p.? 4 3 -57 3' 88.3494 X.24 0.983965 X.68 88.3494 X.24 0.983965 X.72 0 46627648 -20.2941 rs746864099 yes no Frequency 1 C 0.000000 0 0.001155 0.000503 0.000758 0.000000 0.000000 0.000000 0.002151 0.000081 0.001094 0.002151 316 12 26 0 0 0 269 2 7 273538 23866 34296 10040 18820 30510 125040 24570 6396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 316 12 26 0 0 0 269 2 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.087 0.932 255 PASS . . . . . . . . . . . . . . . . 0.425 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.6959 . . . . . . . . 1.011e-03 . . . 0.0002 0.0010 0.0006 0 0 0.0019 0 0 0.0002 0.0009 0.0006 0 0 0.0016 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . HOXB-AS1 HOXB-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs746864099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.58 0.0005 0.0012 0.0008 0 0 4.744e-05 0.0022 0.0013 0 0.0006 0.0009 0 0 0 0.0003 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs746864099 17 46627645 C A - HOXB3 5114 Homeobox B3 NM_002146.4 -1 3618 1296 NP_002137.4 P14651 substitution 3'UTR GRCh37 46627645 46627645 Chr17(GRCh37):g.46627645C>A *51 *51 NM_002146.4:c.*51G>T p.? p.? 4 142966 899 3' 72.4509 5.65735 0.020281 7.52791 72.4509 5.65735 0.020281 7.52791 0 rs746864099 yes no Frequency 1 C 0.000000 0 0.001155 0.000503 0.000758 0.000000 0.000000 0.000000 0.002151 0.000081 0.001094 0.002151 316 12 26 0 0 0 269 2 7 273538 23866 34296 10040 18820 30510 125040 24570 6396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 316 12 26 0 0 0 269 2 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G T G>T 0.087 0.932 255 PASS . . . . . . . . . . . . . . . . 0.425 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.6959 . . . . . . . . 1.011e-03 . . . 0.0002 0.0010 0.0006 0 0 0.0019 0 0 0.0002 0.0009 0.0006 0 0 0.0016 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . HOXB-AS1 HOXB-AS1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs746864099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.58 0.0005 0.0012 0.0008 0 0 4.744e-05 0.0022 0.0013 0 0.0006 0.0009 0 0 0 0.0003 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs36010904 17 47677953 A G - SPOP 11254 Speckle-type POZ protein NM_003563.3 -1 3038 1125 NP_003554.1 O43791 substitution intron GRCh37 47677953 47677953 Chr17(GRCh37):g.47677953A>G 981-69 981-69 NM_003563.3:c.981-69T>C p.? p.? 11 10 602650 -69 3' 74.4599 6.73425 0.771868 6.96033 74.4599 6.73425 0.771868 6.97368 0 rs36010904 yes no Frequency/1000G 2 A 0.000000 0 0.002596 0.000000 0.000000 0.000000 0.008000 0.007200 0.004003 0.000917 0.007160 0.026490 0.000000 0.000000 0.006461 0.000000 0.005092 0.026490 124 8 6 8 0 0 97 0 5 30976 8728 838 302 1620 0 15012 3494 982 0.008065 0.000000 0.000000 0.000000 0.000000 0.000000 0.010309 0.000000 0.000000 1 0 0 0 0 0 1 0 0 122 8 6 8 0 0 95 0 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.000 -0.924 255 PASS . 0.0037 0.01 . 0.01 . 0.0026 0.0072 . 0.008 . . . . . . 0.4857143 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.0429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.52 0.17 182 ENSG00000121067 SPOP SPOP . . . . . . 581 0.00894176 64976 568 0.00946888 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs36010904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0040 0.0072 0.0265 0 0 0.0065 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs36010904 rs36010904 rs36010904 rs36010904 1 1538 10 1/0 0,255,255 +rs147270335 17 47782618 C T - SLC35B1 20798 Solute carrier family 35, member B1 NM_005827.2 -1 1611 1080 NP_005818.2 substitution synonymous exon GRCh37 47782618 47782618 Chr17(GRCh37):g.47782618C>T 507 507 NM_005827.2:c.507G>A p.Leu169= p.Leu169Leu 5 610790 26 3' 85.4758 9.48033 0.992293 11.028 85.4758 9.48033 0.992293 X.91 0 UAA transporter Drug/metabolite transporter rs147270335 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.002000 0.000000 0.003000 0.001400 0.002965 0.000374 0.000610 0.000000 0.000000 0.004158 0.003813 0.005854 0.004640 0.005854 822 9 21 0 0 128 483 151 30 277202 24040 34416 10152 18870 30782 126682 25794 6466 0.000014 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 818 9 21 0 0 124 483 151 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8566 4403 12969 34 3 37 0.00395349 0.00068089 0.00284484 0.00395349 0.00068089 0.00284484 73 transition G A G>A 1.000 3.434 L Leu TTG 0.127 L Leu TTA 0.073 169 255 PASS 0.002 0.0018 0.0028 . 0.0026 0.0008 0.0014 0.0014 . 0.003 0.002 . . . . . 0.51111114 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . 0.0007 0.0028 0.004 0.0007 0.0028 0.004 . I.04 . . . . . . . . 3.283e-03 . . . 0.0004 0.0029 0.0004 0 0.0053 0.0038 0.0042 0.0044 0.0003 0.0032 0.0004 0 0.0052 0.0042 0.0058 0.0043 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0014 . . . 0.63 0.34 182 ENSG00000121073 SLC35B1 SLC35B1 . . . . . . 219 0.00337048 64976 212 0.00353416 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147270335 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv525469 0.002845 . . . . V.84 0.0005 0.0030 0.0006 0 0 0.0056 0.0039 0.0044 0.0042 0.0002 0.0027 0 0 0 0.0074 0.0033 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs147270335 rs147270335 1 1538 10 1/0 0,255,255 +rs141893882 17 48158680 A G - ITGA3 6139 Integrin subunit alpha 3 NM_002204.3 1 5035 3156 NP_002195.1 P26006 substitution missense exon GRCh37 48158680 48158680 Chr17(GRCh37):g.48158680A>G 2827 2827 NM_002204.3:c.2827A>G p.Arg943Gly p.Arg943Gly 23 605025 7 3' 79.81 7.92137 0.595063 9.72701 79.81 7.92137 0.681008 9.60891 0.0481434 rs141893882 yes no Frequency/1000G 2 A 0.000000 0 0.001997 0.000000 0.004100 0.000000 0.006000 0.000000 0.007036 0.001398 0.002497 0.004039 0.000000 0.005595 0.011253 0.007421 0.006057 0.011253 1652 29 76 38 0 147 1162 165 35 234786 20744 30438 9408 16654 26272 103258 22234 5778 0.000119 0.000000 0.000000 0.000000 0.000000 0.000381 0.000136 0.000090 0.000346 14 0 0 0 0 5 7 1 1 1624 29 76 38 0 137 1148 163 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8510 4396 12906 90 8 98 0.0104651 0.00181653 0.00753614 0.0104651 0.00181653 0.00753614 61 transition A G A>G 0.906 0.609 R Arg AGA 0.205 G Gly GGA 0.246 943 12 6 Zebrafish -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 247.14 0.00 Tolerated 0.18 II.82 255 PASS . 0.0023 . . 0.01 . 0.002 . . 0.006 0.0041 . . ITGA3:NM_002204:exon23:c.A2827G:p.R943G . . 0.55172414 . . @ 32 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.454 . @ . . . . . 1 0.433 . . 58.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R943G|ITGA3|mRNA|CODING|NM_002204|NM_002204.ex.23) 0.0018 0.0075 0.011 0.0018 0.0075 0.011 . -0.1747 -0.073 -0.175 c . . . . . 5.921e-03 . . . 0.0015 0.0112 0.0051 0 0.0269 0.0175 0.0033 0.0079 0.0019 0.0140 0.0043 0 0.0260 0.0250 0.0052 0.0080 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.596 . . exonic exonic exonic . . 0.753 0.0020 . . . 0.32 0.32 182 ENSG00000005884 ITGA3 ITGA3 . . . 1.000 0.454 . 564 0.00868013 64976 554 0.00923549 59986 Uncertain_significance . 0 . 0.153 . . . . . . . . . 37 . 0.422 . . 0.402 . . . 0.404 0.230 . . . . 0 0 0 0 0 0 0 1 0 0 0 0.146 . . 0 0 0 0 0 0 . 0.326 . . 0.266 . . . . . . 0 0.267 . . . . . 0.473 . 0.150 . HET 0.17 rs141893882 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 11.1135 0.002409 . V.32 V.32 . 0.410000 . . . . 0.007536 . 0.295 . . V.32 0.0010 0.0070 0.0025 0.0042 0 0.0078 0.0112 0.0050 0.0056 0.0019 0.0072 0.0024 0 0 0.0054 0.0117 0.0112 . . 0.609 . 2.150 2.150000 . . 0.410000 . . 1.0E-255 0.396 0.259 . 0.507 0.996 . 0.245 . 0.267 2.150 1.062 0.011 . . rs141893882 rs141893882 1 1538 10 1/0 0,255,255 +rs77651559 17 48614385 G A - EPN3 18235 Epsin 3 NM_017957.2 1 3927 1899 NP_060427.2 Q9H201 substitution synonymous exon GRCh37 48614385 48614385 Chr17(GRCh37):g.48614385G>A 468 468 NM_017957.2:c.468G>A p.Leu156= p.Leu156Leu 2 607264 -95 5' 73.8017 7.93713 0.831186 10.1695 73.8017 7.93713 0.831186 10.1695 0 rs77651559 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.011900 0.000000 0.004679 0.000760 0.002214 0.003171 0.000000 0.000455 0.007461 0.007032 0.005135 0.007461 1284 18 76 32 0 14 932 179 33 274428 23692 34326 10090 18782 30740 124916 25456 6426 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000048 0.000157 0.000000 5 0 0 0 0 0 3 2 0 1274 18 76 32 0 14 926 175 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4400 12931 69 6 75 0.00802326 0.00136178 0.00576657 0.00802326 0.00136178 0.00576657 29 COSM6030802 Large intestine 0.000448 2231 transition G A G>A 0.992 1.658 L Leu CTG 0.404 L Leu CTA 0.070 156 255 PASS . 0.01 . . 0.01 . 0.0024 . . 0.012 . . . EPN3:NM_017957:exon2:c.G468A:p.L156L . . 0.49438202 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L156|EPN3|mRNA|CODING|NM_017957|NM_017957.ex.2) 0.0014 0.0058 0.008 0.0014 0.0058 0.008 . I.81 . . . . . . . . 4.405e-03 . . . 0.0005 0.0041 0.0016 0 0.0072 0.0074 0.0062 0.0006 0.0005 0.0042 0.0016 0 0.0077 0.0067 0.0062 0.0006 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.31 0.5 182 ENSG00000049283 EPN3 EPN3 . . . . . . 342 0.00526348 64976 330 0.00550128 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77651559 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.005767 . . . . III.36 0.0005 0.0046 0.0022 0.0032 0 0.0074 0.0075 0.0042 0.0005 0.0011 0.0049 0.0048 0.0033 0 0.0046 0.0075 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs77651559 rs77651559 1 1538 10 1/0 0,255,255 +rs554146522 17 55038098 G A - COIL 2184 Coilin NM_004645.2 -1 2634 1731 NP_004636.1 P38432 substitution intron GRCh37 55038098 55038098 Chr17(GRCh37):g.55038098G>A 245+38 245+38 NM_004645.2:c.245+38C>T p.? p.? 1 1 600272 38 5' 79.0738 9.09964 0.819681 10.1189 79.0738 9.09964 0.819681 9.86319 0 Cryptic Donor Strongly Activated 55038100 56.4141 4.69887 0.015431 67.8095 rs554146522 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.003000 0.000000 0.000000 0.000233 0.000000 0.000000 0.000000 0.002607 0.000000 0.000044 0.000000 0.000345 0.002607 25 0 0 0 22 0 2 0 1 107336 12622 13154 3764 8440 12820 45664 7976 2896 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 0 0 22 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.047 -0.279 255 PASS . . . . . . 0.0006 . 0.003 . . . . . . . 0.5 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . INTRON(MODIFIER||||COIL|mRNA|CODING|NM_004645|) . . . . . . . 0.0836 . . . . . . . . 4.232e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . UTR5 intronic intronic . . . 0.0006 . . . . . . ENSG00000121058 COIL COIL ENST00000573008:c.-9287C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs554146522 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv32884 . . . . . . 0 0.0003 0 0 0.0028 0 6.439e-05 0 0 0 0.0001 0 0 0.0019 0 0 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs116924898 17 55752389 G A - MSI2 18585 Musashi RNA binding protein 2 NM_138962.3 1 6332 987 NP_620412.1 Q96DH6 substitution missense exon GRCh37 55752389 55752389 Chr17(GRCh37):g.55752389G>A 847 847 NM_138962.3:c.847G>A p.Ala283Thr p.Ala283Thr 12 607897 57 3' 83.7768 IX.13 0.854573 6.21513 83.7768 IX.13 0.854573 5.92398 0 rs116924898 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000800 0.001000 0.000000 0.009900 0.004300 0.008794 0.002174 0.003312 0.000791 0.000000 0.003217 0.014369 0.011249 0.008995 0.014369 2427 52 114 8 0 99 1806 290 58 275992 23918 34416 10120 18844 30778 125688 25780 6448 0.000188 0.000000 0.000000 0.000000 0.000000 0.000065 0.000366 0.000155 0.000000 26 0 0 0 0 1 23 2 0 2375 52 114 8 0 97 1760 286 58 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8500 4399 12899 94 7 101 0.0109379 0.00158874 0.00776923 0.0109379 0.00158874 0.00776923 55 transition G A G>A 1.000 5.129 A Ala GCC 0.403 T Thr ACC 0.361 283 12 9 Zebrafish 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.1 III.82 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.003 0.0043 . 0.0099 0.001 . . MSI2:NM_138962:exon12:c.G847A:p.A283T . . 0.505618 . . @ 45 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.707 . @ . . . . . 1 0.966 . . 89.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A283T|MSI2|mRNA|CODING|NM_138962|NM_138962.ex.12) 0.0016 0.0078 0.011 0.0016 0.0078 0.011 . 0.6277 0.606 0.628 c . . . . . 9.765e-03 . . . 0.0027 0.0065 0.0050 0 0.0113 0.0096 0.0071 0.0031 0.0025 0.0099 0.0048 0 0.0129 0.0154 0.0044 0.0031 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.856 . . exonic exonic exonic . . 0.538 0.0030 . . . 0.27 0.24 182 ENSG00000153944 MSI2 MSI2 . . . 1.000 0.747 . 720 0.011081 64976 705 0.0117527 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.861 . . 0.848 . . . 0.440 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.358 . . 0 0 0 0 0 0 . 0.899 . . 0.715 . . . . . . 0 0.555 . . . . . 0.866 . 0.620 . HET 0.02 rs116924898 0.011 0.007 . . . . . 0.005494505494505495 0.0020325203252032522 0.0055248618784530384 0.0 0.011873350923482849 17.1487 0.001605 . IV.48 IV.48 . 0.530000 . . . . 0.007769 . 0.986 . . IV.48 0.0023 0.0088 0.0032 0.0007 0 0.0113 0.0146 0.0093 0.0032 0.0019 0.0084 0.0060 0.0033 0 0.0106 0.0128 0.0071 . . 0.830 . 2.038 2.038000 . . 0.530000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.973 . 0.416 2.038 0.917 0.011 . . rs116924898 rs116924898 1 1538 10 1/0 0,255,255 +rs149078703 17 56429483 G T - RNF43 18505 Ring finger protein 43 NM_001305544.1 -1 5543 2352 NP_001292473.1 Q68DV7 substitution downstream GRCh37 56429483 56429483 Chr17(GRCh37):g.56429483G>T *2821 *2821 NM_001305544.1:c.*2821C>A p.? p.? 10 612482 2865 3' 84.9229 7.81793 0.800707 XI.42 84.9229 7.81793 0.800707 XI.42 0 Cryptic Donor Strongly Activated 56429482 3.27269 0.015553 57.9167 5.74298 0.084861 66.8309 rs149078703 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002072 0.000584 0.000756 0.001182 0.000000 0.001105 0.003435 0.001554 0.002013 0.003435 574 14 26 12 0 34 435 40 13 277032 23992 34402 10148 18870 30780 126634 25748 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 574 14 26 12 0 34 435 40 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4403 12978 25 3 28 0.00290698 0.00068089 0.00215285 0.00290698 0.00068089 0.00215285 46 transversion C A C>A 1.000 4.160 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . SUPT4H1:uc002iwe.2:exon1:c.C14A:p.T5K SUPT4H1:NM_003168:exon1:c.C14A:p.T5K . . 0.465 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.528 . . 200.0 . . . 0.0007 0.0022 0.0029 0.0007 0.0022 0.0029 . 0.5766 0.543 0.577 c . . . . . 1.871e-03 . . . 0.0008 0.0016 0.0006 0 0.0016 0.0026 0 0.0010 0.0007 0.0019 0.0006 0 0.0012 0.0030 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.672 0.0002 . . . 0.53 0.55 182 ENSG00000213246 SUPT4H1 SUPT4H1 . . . 1.0 0.983 . 151 0.00232394 64976 150 0.00250058 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.580 0.038 . . 37 . 0.657 . . 0.662 . . . 0.583 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.764 . . 0.551 . . . . . . 3 0.564 . . . . . 0.629 . 0.814 . HET 0.02 rs149078703 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 13.856 8.03E-4 ENST00000225504 5.IV 5.IV . 0.170000 P63272 . . . 0.002153 . 0.614 . . 5.IV 0.0007 0.0020 0.0007 0.0012 0 0.0015 0.0034 0.0020 0.0011 0.0003 0.0024 0.0012 0 0 0.0017 0.0041 0.0020 . . 0.072 . 2.330 2.330000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.444 0.950 . 0.800 . 0.713 2.330 0.917 0.0029 . . rs149078703 rs149078703 1 1538 10 1/0 0,230,255 +rs149078703 17 56429483 G T - SUPT4H1 11467 SPT4 homolog, DSIF elongation factor subunit NM_003168.2 -1 1528 354 NP_003159.1 P63272 substitution missense exon GRCh37 56429483 56429483 Chr17(GRCh37):g.56429483G>T 14 14 NM_003168.2:c.14C>A p.Thr5Lys p.Thr5Lys 1 603555 -56 5' 67.1324 0.866497 0.02901 5.09302 67.1324 0.866497 0.02901 4.79404 0 Cryptic Donor Strongly Activated 56429482 3.27269 0.015553 57.9167 5.74298 0.084861 66.8309 Transcription initiation Spt4 rs149078703 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002072 0.000584 0.000756 0.001182 0.000000 0.001105 0.003435 0.001554 0.002013 0.003435 574 14 26 12 0 34 435 40 13 277032 23992 34402 10148 18870 30780 126634 25748 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 574 14 26 12 0 34 435 40 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4403 12978 25 3 28 0.00290698 0.00068089 0.00215285 0.00290698 0.00068089 0.00215285 46 transversion C A C>A 1.000 4.160 T Thr ACG 0.116 K Lys AAG 0.575 5 12 8 Tetraodon -1 -1 -1 0.71 0.33 8.VI 11.III 61 119 78 C0 353.86 0.00 Tolerated 0.05 III.59 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . SUPT4H1:uc002iwe.2:exon1:c.C14A:p.T5K SUPT4H1:NM_003168:exon1:c.C14A:p.T5K . . 0.465 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.528 . . 200.0 . . . 0.0007 0.0022 0.0029 0.0007 0.0022 0.0029 . 0.5766 0.543 0.577 c . . . . . 1.871e-03 . . . 0.0008 0.0016 0.0006 0 0.0016 0.0026 0 0.0010 0.0007 0.0019 0.0006 0 0.0012 0.0030 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.672 0.0002 . . . 0.53 0.55 182 ENSG00000213246 SUPT4H1 SUPT4H1 . . . 1.0 0.983 . 151 0.00232394 64976 150 0.00250058 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.580 0.038 . . 37 . 0.657 . . 0.662 . . . 0.583 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.764 . . 0.551 . . . . . . 3 0.564 . . . . . 0.629 . 0.814 . HET 0.02 rs149078703 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 13.856 8.03E-4 ENST00000225504 5.IV 5.IV . 0.170000 P63272 . . . 0.002153 . 0.614 . . 5.IV 0.0007 0.0020 0.0007 0.0012 0 0.0015 0.0034 0.0020 0.0011 0.0003 0.0024 0.0012 0 0 0.0017 0.0041 0.0020 . . 0.072 . 2.330 2.330000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.444 0.950 . 0.800 . 0.713 2.330 0.917 0.0029 . . rs149078703 rs149078703 1 1538 10 1/0 0,230,255 +rs149078703 17 56429483 G T - TSPOAP1-AS1 44148 TSPOAP1 antisense RNA 1 NR_038410.1 1 2483 0 substitution exon GRCh37 56429483 56429483 Chr17(GRCh37):g.56429483G>T 878 878 NR_038410.1:n.878G>T 5 124 3' 81.6061 10.0974 0.83144 X.53 81.6061 10.0974 0.83144 X.53 0 Cryptic Acceptor Strongly Activated 56429491 7.35402 0.73981 76.4242 7.74365 0.902559 81.4296 rs149078703 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002072 0.000584 0.000756 0.001182 0.000000 0.001105 0.003435 0.001554 0.002013 0.003435 574 14 26 12 0 34 435 40 13 277032 23992 34402 10148 18870 30780 126634 25748 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 574 14 26 12 0 34 435 40 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8575 4403 12978 25 3 28 0.00290698 0.00068089 0.00215285 0.00290698 0.00068089 0.00215285 46 transversion G T G>T 1.000 4.160 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . SUPT4H1:uc002iwe.2:exon1:c.C14A:p.T5K SUPT4H1:NM_003168:exon1:c.C14A:p.T5K . . 0.465 . . @ 93 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.697 . @ . . . . . 1 0.528 . . 200.0 . . . 0.0007 0.0022 0.0029 0.0007 0.0022 0.0029 . 0.5766 0.543 0.577 c . . . . . 1.871e-03 . . . 0.0008 0.0016 0.0006 0 0.0016 0.0026 0 0.0010 0.0007 0.0019 0.0006 0 0.0012 0.0030 0 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.672 0.0002 . . . 0.53 0.55 182 ENSG00000213246 SUPT4H1 SUPT4H1 . . . 1.0 0.983 . 151 0.00232394 64976 150 0.00250058 59986 Uncertain_significance . 0 . 0.843 . . . . D 0.580 0.038 . . 37 . 0.657 . . 0.662 . . . 0.583 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.764 . . 0.551 . . . . . . 3 0.564 . . . . . 0.629 . 0.814 . HET 0.02 rs149078703 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 13.856 8.03E-4 ENST00000225504 5.IV 5.IV . 0.170000 P63272 . . . 0.002153 . 0.614 . . 5.IV 0.0007 0.0020 0.0007 0.0012 0 0.0015 0.0034 0.0020 0.0011 0.0003 0.0024 0.0012 0 0 0.0017 0.0041 0.0020 . . 0.072 . 2.330 2.330000 . . 0.170000 . . 1.0E-255 1.000 0.715 . 0.444 0.950 . 0.800 . 0.713 2.330 0.917 0.0029 . . rs149078703 rs149078703 1 1538 10 1/0 0,230,255 +rs143957022 17 56432201 G A - RNF43 18505 Ring finger protein 43 NM_001305544.1 -1 5543 2352 NP_001292473.1 Q68DV7 substitution 3'UTR GRCh37 56432201 56432201 Chr17(GRCh37):g.56432201G>A *103 *103 NM_001305544.1:c.*103C>T p.? p.? 10 612482 147 3' 84.9229 7.81793 0.800707 XI.42 84.9229 7.81793 0.800707 XI.42 0 rs143957022 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002325 0.000344 0.001193 0.000000 0.000000 0.000000 0.003998 0.001718 0.002037 0.003998 72 3 1 0 0 0 60 6 2 30972 8730 838 302 1622 0 15006 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 3 1 0 0 0 60 6 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.921 1.013 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.42528737 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . . . . . . . . . 1.0489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0002 . . . 0.61 0.68 182 ENSG00000265148 RNF43 RNF43 . . . . . . 160 0.00246245 64976 159 0.00265062 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143957022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . 0.0003 0.0023 0.0012 0 0 0.0017 0.0040 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs143957022 rs143957022 1 1538 10 1/0 0,255,255 +rs143957022 17 56432201 G A - TSPOAP1-AS1 44148 TSPOAP1 antisense RNA 1 NR_038410.1 1 2483 0 substitution downstream GRCh37 56432201 56432201 Chr17(GRCh37):g.56432201G>A *1113 *1113 NR_038410.1:n.*1113G>A p.? p.? 5 2842 3' 81.6061 10.0974 0.83144 X.53 81.6061 10.0974 0.83144 X.53 0 rs143957022 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002325 0.000344 0.001193 0.000000 0.000000 0.000000 0.003998 0.001718 0.002037 0.003998 72 3 1 0 0 0 60 6 2 30972 8730 838 302 1622 0 15006 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 3 1 0 0 0 60 6 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.921 1.013 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.42528737 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . . . . . . . . . 1.0489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0002 . . . 0.61 0.68 182 ENSG00000265148 RNF43 RNF43 . . . . . . 160 0.00246245 64976 159 0.00265062 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143957022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.III . . . . . . . . . 0.0003 0.0023 0.0012 0 0 0.0017 0.0040 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs143957022 rs143957022 1 1538 10 1/0 0,255,255 +rs73990682 17 58288540 G A - USP32 19143 Ubiquitin specific peptidase 32 NM_032582.3 -1 7026 4815 NP_115971.2 Q8NFA0 substitution intron GRCh37 58288540 58288540 Chr17(GRCh37):g.58288540G>A 2319-61 2319-61 NM_032582.3:c.2319-61C>T p.? p.? 21 20 607740 -61 3' 78.5457 X.65 0.606481 4.87875 78.5457 X.65 0.606481 5.30685 0 rs73990682 no no 0 G 0.000000 0 0.006976 0.000115 0.004866 0.045802 0.000000 0.000000 0.013097 0.000000 0.006424 0.045802 210 1 4 12 0 0 187 0 6 30102 8716 822 262 1622 0 14278 3468 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 210 1 4 12 0 0 187 0 6 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition C T C>T 0.000 0.367 235 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||USP32|mRNA|CODING|NM_032582|) . . . . . . . 0.3348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.64 0.33 182 ENSG00000170832 USP32 USP32 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73990682 . 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833504 . . . . . . . . . . . . . . . 0.0001 0.0070 0.0049 0.0458 0 0 0.0131 0.0064 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . rs73990682 rs73990682 rs202201596 1 1538 10 1/0 0,255,255 +rs571048538 17 58292024 C T - USP32 19143 Ubiquitin specific peptidase 32 NM_032582.3 -1 7026 4815 NP_115971.2 Q8NFA0 substitution missense exon GRCh37 58292024 58292024 Chr17(GRCh37):g.58292024C>T 1979 1979 NM_032582.3:c.1979G>A p.Arg660His p.Arg660His 17 607740 -44 5' 91.6164 10.0647 0.988708 2.75569 91.6164 10.0647 0.988708 II.06 0 rs571048538 yes no Frequency/1000G 2 C 0.000599 T 3 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000251 0.000878 0.000447 0.000312 0.000000 0.000371 0.000129 0.000000 0.000318 0.000878 68 21 15 3 0 11 16 0 2 271014 23908 33520 9602 18744 29686 123818 25440 6296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 21 15 3 0 11 16 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 6.016 R Arg CGC 0.190 H His CAC 0.587 660 12 11 Tetraodon 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 241.31 I.62 Deleterious 0 IV.32 bad 1.473E-3 0.0001143 182 PASS . . . . . 0.0023 0.0006 . . . . . . USP32:NM_032582:exon17:c.G1979A:p.R660H . . 0.118644066 . . @ 7 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.900 . @ . . . . . 1 0.998 . . 59.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R660H|USP32|mRNA|CODING|NM_032582|NM_032582.ex.17) . . . . . . . 0.5474 0.614 0.547 c . . . . . 1.974e-04 . . . 0.0010 0.0003 8.708e-05 0 0 0.0001 0 0.0004 0.0009 0.0002 8.978e-05 0 0 7.492e-05 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.665 . . exonic exonic exonic . . 0.775 0.0006 . . . 0.72 0.35 182 ENSG00000170832 USP32 USP32 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.578 0.038 . . 37 . 0.455 . . 0.483 . . . 0.444 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.571 . . 0 0 0 0 0 0 . 0.505 . . 0.413 . . . . . . 0 0.632 . . . . . 0.935 . 0.787 . LowAF . rs571048538 . . . . . . . . . . . . 19.155 . ENST00000300896 V.39 V.39 . 0.090000 Q8NFA0 . . Name\x3dnsv833504 . . 0.891 . . V.39 0.0008 0.0002 0.0004 0.0003 0 0 0.0001 0.0004 0.0004 0.0010 0.0004 0.0012 0 0 0 0.0001 0 . . 0.924 . 2.539 2.539000 . . 0.090000 . . 1.0E-182 1.000 0.715 . 0.697 0.996 . 0.845 . 0.345 2.539 0.871 . rs62069141 rs62069141 rs62069141 rs62069141 1 1538 10 1/0 0,250,255 +rs752809769 17 58968989 C T - BCAS3 14347 BCAS3, microtubule associated cell migration factor NM_001353144.1 1 3735 2877 NP_001340073.1 substitution intron GRCh37 58968989 58968989 Chr17(GRCh37):g.58968989C>T 738+1857 738+1857 NM_001353144.1:c.738+1857C>T p.? p.? 10 10 607470 1857 5' 94.3644 X.71 0.998843 4.49477 94.3644 X.71 0.998843 4.49477 0 rs752809769 yes no Frequency 1 C 0.000000 0 0.002584 0.000115 0.000000 0.000000 0.000000 0.000000 0.004603 0.001145 0.006122 0.004603 80 1 0 0 0 0 69 4 6 30954 8732 836 302 1620 0 14990 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 1 0 0 0 0 69 4 6 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.37931034 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . -0.1099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000141376 BCAS3 BCAS3 . . . . . . 31 0.000477099 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0026 0 0 0 0.0011 0.0046 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs76100965 17 60342294 A C - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution exon GRCh37 60342294 60342294 Chr17(GRCh37):g.60342294A>C 1835 1835 NR_027486.1:n.1835T>G 14 696 3' 92.0424 X.92 0.970987 XI.72 92.0424 X.92 0.970987 XI.72 0 rs76100965 yes no Frequency/1000G 2 0.000000 0 0.256589 0.189900 0.291400 0.258900 0.290300 0.282400 0.000558 0.000000 0.000000 0.000000 0.004399 0.000000 0.000576 0.000000 0.002193 0.004399 16 0 0 0 6 0 8 0 2 28672 8012 798 282 1364 0 13896 3408 912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 0 0 6 0 8 0 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion T G T>G 0.071 0.125 192 PASS . . . . . 0.19 0.26 0.28 0.26 0.29 0.29 . . . . . 0.14285715 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 35.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L612W|TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|NR_027486.ex.14) . . . . . . . -0.3287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . 0.2566 . . . 0.61 0.3 182 ENSG00000188755 . TBC1D3P2 . dist\x3d50837\x3bdist\x3d3212 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs556248643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0.0044 0 0.0006 0.0022 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs76100965 rs76100965 1 1538 10 1/0 0,255,255 +rs777074851 17 60348311 C T - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60348311 60348311 Chr17(GRCh37):g.60348311C>T 556+20 556+20 NR_027486.1:n.556+20G>A p.? p.? 7 7 20 5' 77.8557 7.09785 0.956669 4.76344 77.8557 7.09785 0.956669 4.16278 0 rs777074851 yes no Frequency 1 0.000000 0 0.000114 0.000088 0.000058 0.000000 0.000054 0.000000 0.000089 0.000557 0.000158 0.000557 31 2 2 0 1 0 11 14 1 271914 22668 34346 10048 18624 30778 123980 25140 6330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 2 2 0 1 0 11 14 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 1.013 182 PASS . . . . . . . . . . . . TBC1D3P2:uc002izq.2:exon7:c.G464A:p.R155K . . . 0.11737089 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 213.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.0958 . . . . . . . . 8.017e-06 . . . 0 1.139e-05 8.663e-05 0 0 0 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.42 0.13 182 ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.51 rs777074851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.17e-05 5.961e-05 0 0 0.0006 0 0 0 0.0002 0.0006 0 0 0.0007 0.0003 0.0008 0.0011 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs2108964 rs2108964 rs2108964 rs2108964 1 1538 10 1/0 0,195,255 +. 17 60348340 C G - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution exon GRCh37 60348340 60348340 Chr17(GRCh37):g.60348340C>G 547 547 NR_027486.1:n.547G>C 7 -10 5' 77.8557 7.09785 0.956669 4.76344 77.8557 7.09785 0.956669 5.21352 0 0.000291 0.000582 0.000030 0.000000 0.000439 0.000000 0.000310 0.000576 0.000644 0.000582 78 13 1 0 8 0 38 14 4 268210 22354 33794 9986 18240 30608 122698 24316 6214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 78 13 1 0 8 0 38 14 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.992 -0.682 209 PASS . . . . . . . . . . . . TBC1D3P2:uc002izq.2:exon7:c.G435C:p.M145I . . . 0.1826923 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 208.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Cga|G183R|TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|NR_027486.ex.7) . . . . . . . -1.2784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . II.76 . ENST00000339120 . . . 1.000000 F8WD16 . . . . . . . . . 0 4.147e-05 0 0 0 0.0005 0 0 0 0.0017 0.0025 0.0014 0 0.0066 0.0012 0.0029 0.0049 . . . . -0.000 -0.000000 . . 1.000000 . . 1.0E-209 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,202,255 +rs756758704 17 60348343 C G - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution exon GRCh37 60348343 60348343 Chr17(GRCh37):g.60348343C>G 544 544 NR_027486.1:n.544G>C 7 -13 5' 77.8557 7.09785 0.956669 4.76344 77.8557 7.09785 0.956669 5.0385 0 Cryptic Acceptor Strongly Activated 60348345 3,00E-06 67.7694 0.0810803 8,00E-06 67.7694 rs756758704 yes no Frequency 1 0.000000 0 0.000388 0.000719 0.000089 0.000000 0.000549 0.000000 0.000392 0.000907 0.000805 0.000907 104 16 3 0 10 0 48 22 5 267786 22268 33752 9988 18216 30600 122504 24246 6212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104 16 3 0 10 0 48 22 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 1.000 0.448 208 PASS . . . . . . . . . . . . TBC1D3P2:uc002izq.2:exon7:c.G432C:p.Q144H . . . 0.17840375 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 213.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D182H|TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|NR_027486.ex.7) . . . . . . . -0.9359 . . . . . . . . 2.381e-05 . . . 0 2.308e-05 8.681e-05 0 0 2.518e-05 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.05 rs756758704 . . . . . . . . . . . . II.52 . ENST00000339120 . . . 0.070000 F8WD16 . . . . . . . . . 0 7.884e-05 6.053e-05 0 0 0.0008 0 0 0 0.0021 0.0032 0.0014 0 0.0083 0.0016 0.0037 0.0062 . . . . -0.000 -0.000000 . . 0.070000 . . 9.999999999999999E-209 . . . . . . . . . -0.000 . . . . . . 1 1538 10 1/0 0,200,255 +rs746516122 17 60349920 G C - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349920 60349920 Chr17(GRCh37):g.60349920G>C 271-49 271-49 NR_027486.1:n.271-49C>G p.? p.? 4 3 -49 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 4.24552 0 transversion C G C>G 0.000 -14.080 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.4333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 60349921 G A - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349921 60349921 Chr17(GRCh37):g.60349921G>A 271-50 271-50 NR_027486.1:n.271-50C>T p.? p.? 4 3 -50 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 4.25295 0 Cryptic Acceptor Strongly Activated 60349912 0.916547 0.040946 74.565 2.68565 0.07897 77.2768 transition C T C>T 0.000 -14.080 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.4000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 60349922 C T - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349922 60349922 Chr17(GRCh37):g.60349922C>T 271-51 271-51 NR_027486.1:n.271-51G>A p.? p.? 4 3 -51 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 3.94566 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20706 6408 450 216 1030 0 10032 2028 542 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transition G A G>A 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.11363637 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.3848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 17 60349967 T A - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349967 60349967 Chr17(GRCh37):g.60349967T>A 271-96 271-96 NR_027486.1:n.271-96A>T p.? p.? 4 3 -96 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 4.18111 0 0.003562 0.001018 0.006667 0.008929 0.002915 0.000000 0.004913 0.004489 0.004373 0.008929 87 8 4 2 4 0 53 13 3 24424 7858 600 224 1372 0 10788 2896 686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 8 4 2 4 0 53 13 3 0 0 0 0 0 0 0 0 0 RF 34 Genomes transversion A T A>T 0.000 -14.080 201 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.3661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0036 0.0067 0.0089 0.0029 0.0045 0.0049 0.0044 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . rs36098924 . . 1 1538 10 1/0 0,255,255 +. 17 60349984 G A - TBC1D3P2 27783 TBC1 domain family, member 3 pseudogene 2 NR_027486.1 -1 2063 0 substitution intron GRCh37 60349984 60349984 Chr17(GRCh37):g.60349984G>A 271-113 271-113 NR_027486.1:n.271-113C>T p.? p.? 4 3 -113 3' 78.2821 7.31042 0.390111 4.18111 78.2821 7.31042 0.390111 4.18111 0 0.004670 0.004614 0.005190 0.005435 0.012846 0.000000 0.004109 0.003719 0.004762 0.012846 102 30 3 1 13 0 41 11 3 21842 6502 578 184 1012 0 9978 2958 630 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102 30 3 1 13 0 41 11 3 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition C T C>T 0.000 -14.080 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . INTRON(MODIFIER||||TBC1D3P2|Non-coding_transcript|NON_CODING|NR_027486|) . . . . . . . -0.3289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.12 182 ENSG00000188755 TBC1D3P2 TBC1D3P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0047 0.0052 0.0054 0.0128 0.0037 0.0041 0.0048 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs79847388 rs79847388 1 1538 10 1/0 0,255,255 +rs374435300 17 61895518 C T - DDX42 18676 DEAD (Asp-Glu-Ala-Asp) box helicase 42 NM_007372.3 1 4011 2817 NP_031398.2 Q86XP3 substitution synonymous exon GRCh37 61895518 61895518 Chr17(GRCh37):g.61895518C>T 2577 2577 NM_007372.3:c.2577C>T p.His859= p.His859His 19 613369 465 3' 91.1267 11.0925 0.96443 XI.74 91.1267 11.0925 0.96443 XI.74 0 rs374435300 yes no Frequency 1 C 0.000000 0 0.000191 0.000000 0.000000 0.000000 0.000000 0.000032 0.000379 0.000078 0.000310 0.000379 53 0 0 0 0 1 48 2 2 276844 24012 34416 10144 18870 30780 126530 25630 6462 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 51 0 0 0 0 1 46 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 84 transition C T C>T 0.992 0.125 H His CAC 0.587 H His CAT 0.413 859 255 PASS . . . . . . . . . . . . . . . . 0.46120688 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 232.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.6647 . . . . . . . . 1.105e-04 . . . 0 0.0001 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.31 182 ENSG00000198231 DDX42 DDX42 . . . . . . 8 0.000123122 64976 8 0.000133364 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs374435300 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0002 0 0 0 9.033e-05 0.0004 0.0004 3.249e-05 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs374435300 rs374435300 1 1538 10 1/0 0,223,254 +rs374435300 17 61895518 C T - FTSJ3 17136 FtsJ homolog 3 (E. coli) NM_017647.3 -1 3559 2544 NP_060117.3 Q8IY81 substitution downstream GRCh37 61895518 61895518 Chr17(GRCh37):g.61895518C>T *1644 *1644 NM_017647.3:c.*1644G>A p.? p.? 21 1837 3' 74.4759 9.71011 0.976662 6.40792 74.4759 9.71011 0.976662 6.40792 0 rs374435300 yes no Frequency 1 C 0.000000 0 0.000191 0.000000 0.000000 0.000000 0.000000 0.000032 0.000379 0.000078 0.000310 0.000379 53 0 0 0 0 1 48 2 2 276844 24012 34416 10144 18870 30780 126530 25630 6462 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 51 0 0 0 0 1 46 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 84 transition G A G>A 0.992 0.125 255 PASS . . . . . . . . . . . . . . . . 0.46120688 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 232.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . 0.6647 . . . . . . . . 1.105e-04 . . . 0 0.0001 0 0 0 0.0002 0 0 0 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.31 182 ENSG00000198231 DDX42 DDX42 . . . . . . 8 0.000123122 64976 8 0.000133364 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs374435300 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0 0.0002 0 0 0 9.033e-05 0.0004 0.0004 3.249e-05 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs374435300 rs374435300 1 1538 10 1/0 0,223,254 +. 17 62891165 T C - LRRC37A3 32427 Leucine rich repeat containing 37 member A3 NM_199340.4 -1 6047 4905 NP_955372.2 O60309 substitution synonymous exon GRCh37 62891165 62891165 Chr17(GRCh37):g.62891165T>C 2211 2211 NM_199340.4:c.2211A>G p.Pro737= p.Pro737Pro 4 616557 -399 5' 73.545 4.16793 0.527003 4.92308 73.545 4.16793 0.527003 4.92308 0 0.000557 0.003887 0.000058 0.000100 0.000000 0.000130 0.000359 0.001117 0.000800 0.003887 147 63 2 1 0 4 44 28 5 264146 16206 34308 10020 18802 30782 122714 25064 6250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 147 63 2 1 0 4 44 28 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.008 -0.279 P Pro CCA 0.274 P Pro CCG 0.115 737 175 PASS . . . . . . . . . . . . . LRRC37A3:NM_199340:exon4:c.A2211G:p.P737P . . 0.10344828 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.4051 . . . . . . . . 1.628e-05 . . . 0 2.322e-05 0 0 0 0 0 0.0001 0 1.962e-05 0 0 0 0 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.42 182 ENSG00000176809 LRRC37A3 LRRC37A3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs750628842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.663e-05 0 0 0 0 0 0 0.0001 0.0132 0.0060 0.0027 0.0039 0 0.0101 0.0034 0.0062 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs62073222 rs62073222 rs62073222 rs62073222 1 1538 10 1/0 0,250,255 +. (chr17:62923815 G/GA) 17 62923815 G GA Not on a known gene +rs56300655 17 64735042 C T - PRKCA 9393 Protein kinase C, alpha NM_002737.2 1 8770 2019 NP_002728.1 P17252 substitution intron GRCh37 64735042 64735042 Chr17(GRCh37):g.64735042C>T 1322+69 1322+69 NM_002737.2:c.1322+69C>T p.? p.? 11 11 176960 69 5' 73.7552 6.95697 0.953704 2.36191 73.7552 6.95697 0.953704 2.24754 0 rs56300655 yes no Frequency 1 C 0.000000 0 0.000285 0.000743 0.000000 0.000000 0.000000 0.000000 0.000148 0.000000 0.000000 0.000743 8 6 0 0 0 0 2 0 0 28044 8074 822 286 1548 0 13548 2912 854 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 6 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 51 Genomes transition C T C>T 0.000 -2.135 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||PRKCA|mRNA|CODING|NM_002737|) . . . . . . . -0.6690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.28 182 ENSG00000154229 PRKCA PRKCA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs56300655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0003 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . rs56300655 rs56300655 rs56300655 rs56300655 1 1538 10 1/0 0,245,255 +rs201370981 17 66265215 G C - ARSG 24102 Arylsulfatase G NM_001267727.1 1 2599 1578 NP_001254656.1 Q96EG1 substitution upstream GRCh37 66265215 66265215 Chr17(GRCh37):g.66265215G>C -23046 -23046 NM_001267727.1:c.-23046G>C p.? p.? 1 610008 -22495 5' 81.2188 9.23916 0.966518 15.4417 81.2188 9.23916 0.966518 15.4417 0 Cryptic Acceptor Strongly Activated 66265229 0.002355 69.9814 0.538071 0.003263 72.3911 rs201370981 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000349 0.000217 0.000243 0.000000 0.000273 0.000205 0.000558 0.000000 0.000000 0.000558 86 5 7 0 5 5 64 0 0 246382 23082 28754 7490 18290 24340 114738 23962 5726 0.000016 0.000000 0.000070 0.000000 0.000109 0.000000 0.000000 0.000000 0.000000 2 0 1 0 1 0 0 0 0 82 5 5 0 3 5 64 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion G C G>C 0.000 0.770 200 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.1590909 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.5472 . . . . . . . . 3.168e-04 . . . 0.0001 0.0004 9.098e-05 0.0009 0 0.0005 0 0.0004 0.0001 0.0003 9.388e-05 0.0006 0 0.0004 0 0.0004 . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . 0.44 0.66 182 ENSG00000108932 SLC16A6 SLC16A6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201370981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0002 0 0.0003 0 0.0006 0 0.0002 0.0003 0.0004 0.0012 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs62072156 rs62072156 rs62072156 rs201370981 1 1538 10 1/0 0,237,255 +rs201370981 17 66265215 G C - SLC16A6 10927 Solute carrier family 16, member 6 (monocarboxylic acid transporter 7) NM_004694.4 -1 3828 1572 NP_004685.2 O15403 substitution 3'UTR GRCh37 66265215 66265215 Chr17(GRCh37):g.66265215G>C *22 *22 NM_004694.4:c.*22C>G p.? p.? 6 603880 273 3' 90.4308 8.49056 0.934574 7.35417 90.4308 8.49056 0.934574 7.35417 0 Cryptic Acceptor Strongly Activated 66265215 4.39047 0.015427 73.8787 6.14827 0.321333 79.6372 rs201370981 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000800 0.000000 0.000000 0.001000 0.000000 0.000349 0.000217 0.000243 0.000000 0.000273 0.000205 0.000558 0.000000 0.000000 0.000558 86 5 7 0 5 5 64 0 0 246382 23082 28754 7490 18290 24340 114738 23962 5726 0.000016 0.000000 0.000070 0.000000 0.000109 0.000000 0.000000 0.000000 0.000000 2 0 1 0 1 0 0 0 0 82 5 5 0 3 5 64 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.000 0.770 200 PASS . . . . . 0.0008 0.0004 . . 0.001 . . . . . . 0.1590909 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . . . . . . . . . 0.5472 . . . . . . . . 3.168e-04 . . . 0.0001 0.0004 9.098e-05 0.0009 0 0.0005 0 0.0004 0.0001 0.0003 9.388e-05 0.0006 0 0.0004 0 0.0004 . . . . . . UTR3 UTR3 UTR3 . . . 0.0004 . . . 0.44 0.66 182 ENSG00000108932 SLC16A6 SLC16A6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201370981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0002 0 0.0003 0 0.0006 0 0.0002 0.0003 0.0004 0.0012 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs62072156 rs62072156 rs62072156 rs201370981 1 1538 10 1/0 0,237,255 +rs74909356 17 71248777 T C - CPSF4L 33632 Cleavage and polyadenylation specific factor 4-like NM_001129885.1 -1 647 540 NP_001123357.1 A6NMK7 substitution synonymous exon GRCh37 71248777 71248777 Chr17(GRCh37):g.71248777T>C 489 489 NM_001129885.1:c.489A>G p.Gln163= p.Gln163Gln 5 -9 5' 74.8217 9.13691 0.941665 3.64765 74.8217 9.13691 0.941665 3.15135 0 Zinc finger, CCCH-type rs74909356 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.007000 0.001400 0.002206 0.000306 0.001049 0.000703 0.000000 0.000131 0.004088 0.002580 0.002474 0.004088 402 5 26 6 0 3 298 52 12 182216 16324 24790 8536 11848 22820 72896 20152 4850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 402 5 26 6 0 3 298 52 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3172 1384 4556 10 0 10 0.00314268 0 0.0021901 0.00314268 0 0.0021901 118 transition A G A>G 0.992 -0.037 Q Gln CAA 0.256 Q Gln CAG 0.744 163 255 PASS . 0.0023 0.0028 . 0.01 . 0.0016 0.0014 . 0.007 . . CPSF4L:uc010dfk.1:exon5:c.A489G:p.Q163Q CPSF4L:NM_001129885:exon5:c.A489G:p.Q163Q . . 0.3529412 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . 0.0022 0.0031 . 0.0022 0.0031 . 0.4724 . . . . . . . . 1.968e-03 . . . 0 0.0018 0.0025 0 0.0294 0.0039 0.0053 0 0 0.0012 0 0 0.0031 0.0031 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.35 0.36 182 ENSG00000187959 CPSF4L CPSF4L . . . . . . 144 0.0022162 64976 136 0.0022672 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 4 . . . . . . . . . . HET . rs74909356 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.002190 . . . . . 0.0004 0.0021 0.0010 0.0007 0 0.0025 0.0039 0.0023 0.0001 0.0002 0.0028 0.0012 0 0 0.0029 0.0048 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs74909356 rs74909356 1 1538 10 1/0 0,255,255 +rs117687984 17 71468356 A G - SDK2 19308 Sidekick homolog 2 (chicken) NM_001144952.1 -1 10722 6519 NP_001138424.1 Q58EX2 substitution missense exon GRCh37 71468356 71468356 Chr17(GRCh37):g.71468356A>G 226 226 NM_001144952.1:c.226T>C p.Tyr76His p.Tyr76His 3 607217 2 3' 74.7597 10.183 0.955101 XII.91 74.7597 9.62089 0.914374 XI.09 -0.0326131 Immunoglobulin Immunoglobulin-like Immunoglobulin subtype Immunoglobulin subtype 2 rs117687984 yes no Frequency/1000G 2 A 0.000000 0 0.003395 0.001500 0.000000 0.000000 0.008900 0.008600 0.007428 0.001775 0.006257 0.002578 0.000000 0.000044 0.014094 0.004171 0.007435 0.014094 1352 29 155 22 0 1 1025 84 36 182024 16336 24772 8534 11860 22814 72728 20138 4842 0.000110 0.000122 0.000000 0.000000 0.000000 0.000000 0.000220 0.000099 0.000000 10 1 0 0 0 0 8 1 0 1332 27 155 22 0 1 1009 82 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3142 1384 4526 40 0 40 0.0125707 0 0.0087604 0.0125707 0 0.0087604 30 transition T C T>C 1.000 4.644 Y Tyr TAC 0.562 H His CAC 0.587 76 13 6 Chicken 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 255 PASS 0.002 0.01 0.01 . 0.01 0.0015 0.0034 0.0086 . 0.0089 . . SDK2:uc010dfm.3:exon3:c.T226C:p.Y76H SDK2:NM_001144952:exon3:c.T226C:p.Y76H . . 0.51111114 . . @ 92 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.752 . @ . . . . . 1 0.869 . . 180.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y76H|SDK2|mRNA|CODING|NM_001144952|NM_001144952.ex.3) . 0.0088 0.013 . 0.0088 0.013 . 0.5351 0.508 0.535 c . . . . . 5.323e-03 . . . 0.0019 0.0060 0.0098 0 0.0278 0.0127 0.0105 0 0.0013 0.0033 0.0136 0 0.0031 0.0086 0.0112 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.213 . . exonic exonic exonic . . 0.577 0.0034 . . . 0.55 0.32 182 ENSG00000069188 SDK2 SDK2 . . . 1.000 0.401 . 637 0.00980362 64976 620 0.0103357 59986 Uncertain_significance . 0 . 0.523 . . . . . . . . . 37 . 0.302 . . 0.078 . . . 0.608 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.519 . . 0 0 0 0 0 0 . 0.449 . . 0.536 . . . . . . 0 0.306 . . . . . 0.640 . 0.818 . HET 0 rs117687984 0.022 0.014 . . . . . 0.005494505494505495 0.0020325203252032522 0.011049723756906077 0.0 0.009234828496042216 14.0285 0.0 . IV.66 IV.66 . . Q58EX2 0.0729 0.4 . 0.008760 . 0.849 . . IV.66 0.0020 0.0070 0.0061 0.0027 0 0.0040 0.0134 0.0070 4.383e-05 0.0016 0.0097 0.0107 0 0 0.0052 0.0167 0.0092 . . 0.372 . 1.860 1.860000 . . . . . 1.0E-255 1.000 0.715 . 0.373 0.959 . 0.913 . 0.882 1.860 1.062 0.022 . . rs117687984 rs117687984 1 1538 10 1/0 0,235,252 +. 17 72346777 C T - KIF19 26735 Kinesin family member 19 NM_153209.3 1 3643 2997 NP_694941.2 Q2TAC6 substitution intron GRCh37 72346777 72346777 Chr17(GRCh37):g.72346777C>T 1388+63 1388+63 NM_153209.3:c.1388+63C>T p.? p.? 11 11 63 5' 85.2607 9.14401 0.997363 12.0023 85.2607 9.14401 0.997363 XI.99 0 rs886980142 yes no Frequency 1 C 0.000000 0 0.000323 0.000000 0.000000 0.000000 0.000000 0.000000 0.000601 0.000000 0.001022 0.000601 10 0 0 0 0 0 9 0 1 30950 8730 838 302 1622 0 14986 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 9 0 1 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.3918919 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||KIF19|mRNA|CODING|NM_153209|) . . . . . . . -0.0359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000196169 KIF19 KIF19 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0 0 0.0006 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs763846707 17 72436711 G A - GPRC5C 13309 G protein-coupled receptor, family C, group 5, member C NM_022036.2 1 2373 1461 NP_071319.2 substitution missense exon GRCh37 72436711 72436711 Chr17(GRCh37):g.72436711G>A 931 931 NM_022036.2:c.931G>A p.Gly311Ser p.Gly311Ser 2 605949 -256 5' 85.557 8.56441 0.876558 5.63237 85.557 8.56441 0.876558 5.63237 0 New Acceptor Site 72436713 5.31783 0.248846 80.3947 GPCR, family 3, C-terminal rs763846707 yes no Frequency 1 G 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000155 0.000016 3 0 0 0 0 0 2 0 1 277096 24022 34418 10144 18870 30782 126612 25780 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1385767 Large intestine 0.000448 2231 transition G A G>A 1.000 5.936 G Gly GGC 0.342 S Ser AGC 0.243 311 14 14 Tetraodon 0 0 -1 0.74 I.42 9 9.II 3 32 56 C55 0.00 55.27 Deleterious 0 III.64 good 2.746E-2 7.356E-5 255 PASS . . . . . . . . . . . . . . . . 0.49342105 . . @ 75 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.619 . @ . . . . . 1 0.894 . . 152.0 . . . . . . . . . . 0.7745 0.703 0.775 c . . . . . 7.893e-06 . . . . . . . . . . . 0 9.423e-06 0 0 0 1.841e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.880 . . exonic exonic exonic . . 0.861 @ . . . . . . ENSG00000170412 GPRC5C GPRC5C . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.846 0.168 . . 37 . 0.937 . . 0.934 . . . 0.833 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.752 . . 0 0 0 0 0 0 . 0.899 . . 0.818 . . . . . . 0 0.332 . . . . . 0.914 . 0.854 . HET 0 rs763846707 . . . . . . . . . . . . 18.6707 . . V.63 V.63 . 0.090000 . . . . . . 0.939 . . V.63 0 8.124e-06 0 0 0 0 1.791e-05 0 0 0 3.235e-05 0 0 0 0 0 0.0010 . . 0.830 . 2.659 2.659000 . . 0.090000 . . 1.0E-255 1.000 0.715 . 0.471 0.982 . 0.860 . 0.713 2.659 0.917 . . . . . 1 1538 10 1/0 0,241,255 +rs4319809 17 72889676 G C - FADS6 30459 Fatty acid desaturase domain family, member 6 NM_178128.3 -1 2052 1053 NP_835229.2 substitution synonymous exon GRCh37 72889676 72889676 Chr17(GRCh37):g.72889676G>C 18 18 NM_178128.3:c.18C>G p.Pro6= p.Pro6Pro 1 -173 5' 90.6189 10.0684 0.972858 18.6958 90.6189 10.0684 0.972858 18.6958 0 rs4319809 yes no Frequency/1000G 2 0.000000 0 COSM1385861|COSM1385861|COSM1385861|COSM1385861 Thyroid|Haematopoietic and lymphoid tissue|Central nervous system|Breast 0.002677|0.000278|0.002118|0.000408 747|3598|2361|2453 transversion C G C>G 0.024 0.286 P Pro CCC 0.328 P Pro CCG 0.115 6 254 PASS 0.37 0.41 0.44 0.42 0.43 . . . . . . ENSG00000172782:ENST00000310226:exon1:c.C18G:p.P6P FADS6:uc002jmd.1:exon1:c.C18G:p.P6P FADS6:NM_178128:exon1:c.C18G:p.P6P . . 0.31782946 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 258.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccG|P6|FADS6|mRNA|CODING|NM_178128|NM_178128.ex.1) . . . . . . . 0.7471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.31 182 ENSG00000172782 FADS6 FADS6 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4319809 0.076 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.44 rs4319809 rs4319809 rs4319809 rs4319809 1 1538 10 1/0 0,205,255 +rs564998315 17 73222843 T C - NUP85 8734 Nucleoporin 85kDa NM_024844.4 1 2363 1971 NP_079120.1 Q9BW27 substitution intron GRCh37 73222843 73222843 Chr17(GRCh37):g.73222843T>C 1094+591 1094+591 NM_024844.4:c.1094+591T>C p.? p.? 11 11 170285 591 5' 84.5905 9.78584 0.948773 2.79531 84.5905 9.78584 0.948773 2.79531 0 rs564998315 yes no Frequency/1000G 2 T 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000025 0.000000 0.000044 0.000000 0.000000 0.000000 0.000023 0.000000 0.000294 0.000044 3 0 1 0 0 0 1 0 1 119918 5810 22782 7728 9550 21818 43760 5068 3402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 43 Exomes transition T C T>C 0.000 0.044 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.0188 . . . . . . . . 1.971e-04 . . . 0 0.0001 0 0 . 0.0004 0 0 0 0.0001 0 0 . 0.0004 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000125450 NUP85 NUP85 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs564998315 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv908758 . . . . . . 0 2.502e-05 4.389e-05 0 0 0 2.285e-05 0.0003 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs200570062 17 73258570 C T - GGA3 17079 Golgi-associated, gamma adaptin ear containing, ARF binding protein 3 NM_138619.3 -1 3919 2172 NP_619525.1 Q9NZ52 substitution upstream GRCh37 73258570 73258570 Chr17(GRCh37):g.73258570C>T -902 -902 NM_138619.3:c.-902G>A p.? p.? 1 606006 -942 5' 70.4593 7.67679 0.86107 9.20514 70.4593 7.67679 0.86107 9.20514 0 rs200570062 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.002000 0.005800 0.001952 0.000500 0.001164 0.001992 0.000000 0.001594 0.003018 0.001126 0.001395 0.003018 539 12 40 20 0 49 380 29 9 276140 23996 34364 10038 18864 30742 125924 25762 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 539 12 40 20 0 49 380 29 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4404 12984 20 2 22 0.00232558 0.000453926 0.00169153 0.00232558 0.000453926 0.00169153 124 RCV000420408.1 germline clinical testing Likely benign 1 not specified transition G A G>A 0.000 -0.521 255 PASS . 0.0018 0.01 . 0.0026 . 0.0012 0.0058 . 0.002 . . . . . . 0.48251748 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.126 . @ . . . . . 2 0.104 . . 143.0 . . . 0.0005 0.0017 0.0023 0.0005 0.0017 0.0023 . 1.0238 5.058 1.024 n . . . . . 1.737e-03 . . . 0.0005 0.0019 0.0009 0 0.0008 0.0031 0.0028 0.0015 0.0003 0.0016 0.0009 0 0.0008 0.0023 0.0015 0.0015 nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.031 0.0012 . . . 0.34 0.31 182 ENSG00000125445 MRPS7 MRPS7 . . . 1.000 0.747 . 81 0.00124661 64976 75 0.00125029 59986 . . 0 . . . . . . T 0.019 0.001 . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . 0.001 . 0.069 . HET . rs200570062 . . . . . . . . . . . . . . . . . . . . 0.0001 0.042 . 0.001692 . 0.120 . . . 0.0005 0.0018 0.0012 0.0020 0 0.0010 0.0027 0.0009 0.0016 0.0005 0.0032 0.0012 0.0033 0 0.0020 0.0054 0.0041 . . 0.401 . . . . . . . . 1.0E-255 0.000 0.063 . 0.120 0.054 . 0.007 . 0.009 . -0.261 0.01 . . rs200570062 rs200570062 1 1538 10 1/0 0,247,255 +rs200570062 17 73258570 C T - MRPS7 14499 Mitochondrial ribosomal protein S7 NM_015971.3 1 1415 729 NP_057055.2 Q9Y2R9 substitution intron GRCh37 73258570 73258570 Chr17(GRCh37):g.73258570C>T 84-8 84-8 NM_015971.3:c.84-8C>T p.? p.? 2 1 611974 -8 3' 81.8493 9.85113 0.986653 7.32334 83.6592 9.84496 0.98647 7.63928 0.00709984 rs200570062 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.002000 0.005800 0.001952 0.000500 0.001164 0.001992 0.000000 0.001594 0.003018 0.001126 0.001395 0.003018 539 12 40 20 0 49 380 29 9 276140 23996 34364 10038 18864 30742 125924 25762 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 539 12 40 20 0 49 380 29 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4404 12984 20 2 22 0.00232558 0.000453926 0.00169153 0.00232558 0.000453926 0.00169153 124 RCV000420408.1 germline clinical testing Likely benign 1 not specified transition C T C>T 0.000 -0.521 255 PASS . 0.0018 0.01 . 0.0026 . 0.0012 0.0058 . 0.002 . . . . . . 0.48251748 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.126 . @ . . . . . 2 0.104 . . 143.0 . . . 0.0005 0.0017 0.0023 0.0005 0.0017 0.0023 . 1.0238 5.058 1.024 n . . . . . 1.737e-03 . . . 0.0005 0.0019 0.0009 0 0.0008 0.0031 0.0028 0.0015 0.0003 0.0016 0.0009 0 0.0008 0.0023 0.0015 0.0015 nonsynonymous_SNV . . . . . exonic intronic intronic . . 0.031 0.0012 . . . 0.34 0.31 182 ENSG00000125445 MRPS7 MRPS7 . . . 1.000 0.747 . 81 0.00124661 64976 75 0.00125029 59986 . . 0 . . . . . . T 0.019 0.001 . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . 0.001 . 0.069 . HET . rs200570062 . . . . . . . . . . . . . . . . . . . . 0.0001 0.042 . 0.001692 . 0.120 . . . 0.0005 0.0018 0.0012 0.0020 0 0.0010 0.0027 0.0009 0.0016 0.0005 0.0032 0.0012 0.0033 0 0.0020 0.0054 0.0041 . . 0.401 . . . . . . . . 1.0E-255 0.000 0.063 . 0.120 0.054 . 0.007 . 0.009 . -0.261 0.01 . . rs200570062 rs200570062 1 1538 10 1/0 0,247,255 +. 17 73567202 T G - LLGL2 6629 Lethal giant larvae homolog 2 (Drosophila) NM_001031803.1 1 3548 3063 NP_001026973.1 Q6P1M3 substitution intron GRCh37 73567202 73567202 Chr17(GRCh37):g.73567202T>G 2176+21 2176+21 NM_001031803.1:c.2176+21T>G p.? p.? 17 17 21 5' 74.2807 8.34018 0.936766 X.43 74.2807 8.34018 0.936766 11.0305 0 transversion T G T>G 0.000 -0.360 209 PASS . . . . . . . . . . . . . . . . 0.18604651 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . 0.6877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000073350 LLGL2 LLGL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs936054 17 73601755 G A - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 substitution intron GRCh37 73601755 73601755 Chr17(GRCh37):g.73601755G>A 3900+53 3900+53 NR_003587.2:n.3900+53G>A p.? p.? 18 18 53 5' 85.2503 8.22968 0.905226 5.14169 85.2503 8.22968 0.905226 5.1251 0 rs936054 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 0.999885 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30925 8729 838 302 1622 0 14968 3486 980 30926 8730 838 302 1622 0 14968 3486 980 0.499984 0.499943 0.500000 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15462 4364 419 151 811 0 7484 1743 490 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition G A G>A 0.000 -1.409 111 PASS 1. 1. 0.99 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . INTRON(MODIFIER||||MYO15B|mRNA|CODING|NM_001309242|) . . . . . . . -0.0665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.24 0.27 182 ENSG00000266714 MYO15B MYO15B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs936054 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs936054 rs936054 rs936054 rs936054 1 1538 255 1.I 0,0,255 +. 17 73612642 A AT - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 duplication exon GRCh37 73612643 73612644 Chr17(GRCh37):g.73612643dup 6032 6032 NR_003587.2:n.6032dup 37 39 3' 81.62 VIII.04 0.499437 6.65133 81.62 VIII.04 0.499437 7.33726 0 rs11439064 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999982 0.999933 1.000000 1.000000 0.999913 1.000000 0.999985 1.000000 1.000000 1.000000 165829 14941 24584 8360 11541 22554 68747 10408 4694 165832 14942 24584 8360 11542 22554 68748 10408 4694 0.999964 0.999866 1.000000 1.000000 0.999827 1.000000 0.999971 1.000000 1.000000 82913 7470 12292 4180 5770 11277 34373 5204 2347 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes T 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . MYO15B:uc002jor.1:exon14:c.2dupT:p.M1fs UNKNOWN . . 1.0 . . . 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 127 . . FRAME_SHIFT(HIGH||||MYO15B|mRNA|CODING|NM_001309242|NM_001309242.ex.38) . . . . . . . . . . . . . . . . 1.000 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . frameshift_insertion unknown . . . intergenic exonic exonic . . . . . . . . . . . MYO15B MYO15B dist\x3d3454\x3bdist\x3d10292 . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs11439064 0.065 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 0.9999 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11439064 rs11439064 rs11439064 1 1538 255 1.I 0,0,255 +rs55841054 17 73619953 C G - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 substitution intron GRCh37 73619953 73619953 Chr17(GRCh37):g.73619953C>G 7907+19 7907+19 NR_003587.2:n.7907+19C>G p.? p.? 52 52 19 5' 70.3577 8.55869 0.738915 6.0823 70.3577 8.55869 0.738915 6.26376 0 Cryptic Donor Strongly Activated 73619948 0.005356 63.9468 7.84954 0.300369 76.6428 rs55841054 yes no Frequency/1000G 2 G 0.000000 0 0.962660 0.872900 0.993900 1.000000 0.996000 0.987000 transversion C G C>G 0.000 0.125 111 PASS . . . . . 0.87 0.96 0.99 1. 1. 0.99 . . . . . 0.9907407 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . 0.2207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intronic intronic . . . 0.0373 . . . 0.29 0.4 182 . MYO15B MYO15B dist\x3d10765\x3bdist\x3d2981 . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs55841054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs55841054 rs55841054 rs55841054 rs55841054 1 1538 255 1.I 0,0,255 +rs55894182 17 73619954 T G - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 substitution intron GRCh37 73619954 73619954 Chr17(GRCh37):g.73619954T>G 7907+20 7907+20 NR_003587.2:n.7907+20T>G p.? p.? 52 52 20 5' 70.3577 8.55869 0.738915 6.0823 70.3577 8.55869 0.738915 5.95459 0 rs55894182 yes no Frequency/1000G 2 G 0.000000 0 0.962660 0.872900 0.993900 1.000000 0.996000 0.987000 0.000031 0.000337 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000337 5 5 0 0 0 0 0 0 0 162996 14840 24574 8348 11536 22552 67530 8996 4620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.117 111 PASS . . . . . 0.87 0.96 0.99 1. 1. 0.99 . . . . . 0.9907407 . . @ 107 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . 0.1230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intronic intronic . . . 0.0373 . . . 0.28 0.26 182 . MYO15B MYO15B dist\x3d10766\x3bdist\x3d2980 . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs55894182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 7.568e-06 0 0 0 0 0 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs55894182 rs55894182 rs55894182 rs55894182 1 1538 255 1.I 0,0,255 +. 17 73619955 TCTG T - MYO15B 14083 Myosin XVB pseudogene NR_003587.2 1 9407 0 deletion intron GRCh37 73619956 73619958 Chr17(GRCh37):g.73619956_73619958del 7907+22 7907+24 NR_003587.2:n.7907+22_7907+24del p.? p.? 52 52 22 5' 70.3577 8.55869 0.738915 6.0823 70.3577 8.55869 0.738915 6.25891 0 rs10578377 yes no Frequency/1000G 2 0.000000 0 0.962859 0.872900 0.993900 1.000000 0.996000 0.988500 0.000031 0.000337 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000337 5 5 0 0 0 0 0 0 0 162994 14836 24576 8348 11536 22552 67532 8994 4620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes CTG 255 Pass 0.88 0.97 0.98 1. 1. 0.87 0.96 0.99 1. 1. 0.99 . . . . . 0.9908257 . . . 108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intronic intronic . . . . . . . . . . . MYO15B MYO15B dist\x3d10768\x3bdist\x3d2976 . . . . . . . . . . . . . 0 . . . . . . . . . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs10578377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 7.568e-06 0 0 0 0 0 0 0 0.0005 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs10578377 rs10578377 1 1538 255 1.I 0,0,255 +rs373179528 17 73926022 C T - FBF1 24674 Fas (TNFRSF6) binding factor 1 NM_001319193.1 -1 4679 3447 NP_001306122.1 substitution intron GRCh37 73926022 73926022 Chr17(GRCh37):g.73926022C>T 279+56 279+56 NM_001319193.1:c.279+56G>A p.? p.? 6 6 616807 56 5' 94.6745 X.23 0.997987 8.47011 94.6745 X.23 0.997987 8.33901 0 rs373179528 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.000550 0.000115 0.000000 0.000000 0.000000 0.000000 0.000601 0.001720 0.001022 0.001720 17 1 0 0 0 0 9 6 1 30918 8720 838 302 1620 0 14972 3488 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 1 0 0 0 0 9 6 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes 3179 1384 4563 3 0 3 0.000942803 0 0.00065703 0.000942803 0 0.00065703 16 transition G A G>A 0.000 0.125 255 PASS . . . . . . 0.0008 . . 0.004 . . . . . . 0.42857143 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 21.0 . . INTRON(MODIFIER||||FBF1|mRNA|CODING|NM_001080542|) . 0.0007 0.0009 . 0.0007 0.0009 . -0.0271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.3 0.31 182 ENSG00000188878 FBF1 FBF1 . . . . . . 27 0.000415538 64976 23 0.000383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373179528 . . . . . . . . . . . . . . . . . . . . . . . 0.000657 . . . . . . . . . . . . . . 0.0001 0.0005 0 0 0 0.0017 0.0006 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs373179528 rs373179528 1 1538 10 1/0 0,255,255 +. 17 74536166 G A - PRCD 32528 Progressive rod-cone degeneration NM_001077620.2 1 1994 165 NP_001071088.1 Q00LT1 substitution 5'UTR GRCh37 74536166 74536166 Chr17(GRCh37):g.74536166G>A -58 -58 NM_001077620.2:c.-58G>A p.? p.? 1 610598 -132 5' 67.7768 4.26781 0.450002 9.18721 67.7768 4.26781 0.450002 9.18721 0 transition G A G>A 0.000 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3490566 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 106.0 . . . . . . . . . . I.89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . . . . ENSG00000214140 PRCD PRCD ENST00000592014:c.-58G>A uc002jrx.2:c.-58G>A NM_001077620:c.-58G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv908831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs143320926 17 75205547 G T - SEC14L1 10698 SEC14-like 1 (S. cerevisiae) NM_001039573.2 1 3017 2160 NP_001034662.2 substitution missense exon GRCh37 75205547 75205547 Chr17(GRCh37):g.75205547G>T 1600 1600 NM_001039573.2:c.1600G>T p.Ala534Ser p.Ala534Ser 14 601504 -12 5' 86.16 X.92 0.998975 13.3833 86.16 X.92 0.998975 13.4021 0 GOLD rs143320926 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.005000 0.000000 0.004061 0.000625 0.001017 0.002365 0.000000 0.010205 0.004979 0.003398 0.002940 0.010205 1124 15 35 24 0 314 630 87 19 276770 24004 34402 10146 18856 30770 126528 25602 6462 0.000072 0.000000 0.000000 0.000000 0.000000 0.000325 0.000047 0.000156 0.000000 10 0 0 0 0 5 3 2 0 1104 15 35 24 0 304 624 83 19 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8555 4406 12961 45 0 45 0.00523256 0 0.00345994 0.00523256 0 0.00345994 68 transversion G T G>T 0.992 3.676 A Ala GCC 0.403 S Ser TCC 0.220 534 15 11 Tetraodon 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 256.17 0.00 Tolerated 0.4 III.58 good 7.519E-1 0.4335 255 PASS . 0.0027 0.0028 . 0.01 . 0.0014 . . 0.005 0.002 . . . . . 0.4532374 . . @ 63 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.364 . @ . . . . . 1 0.164 . . 139.0 . . . . 0.0035 0.0052 . 0.0035 0.0052 . -0.1607 0.017 -0.161 c . . . . . 4.546e-03 . . . 0.0004 0.0039 0.0011 0 0.0027 0.0037 0.0057 0.0101 0.0005 0.0049 0.0011 0 0.0031 0.0058 0.0029 0.0101 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.392 . . exonic exonic exonic . . 0.806 0.0014 . . . 0.48 0.45 182 ENSG00000129657 SEC14L1 SEC14L1 . . . 1.000 0.747 . 231 0.00355516 64976 224 0.0037342 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.242 . . 0.079 . . . 0.763 0.537 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.156 . . 0 0 0 0 0 0 . 0.194 . . 0.179 . . . . . . 0 0.067 . . . . . 0.597 . 0.440 . HET 0.43 rs143320926 . . . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 13.3184 0.0 . V.48 V.48 . 0.860000 . . . . 0.003460 . 0.523 . . V.48 0.0005 0.0042 0.0010 0.0023 0 0.0034 0.0050 0.0027 0.0102 0.0009 0.0032 0 0.0033 0 0.0034 0.0049 0.0041 . . 0.854 . 2.553 2.553000 . . 0.860000 . . 1.0E-255 1.000 0.715 . 0.238 0.983 . 0.718 . 0.665 2.553 0.917 0.01 . . rs143320926 rs143320926 1 1538 10 1/0 0,243,255 +rs72899753 17 76354469 C T - SOCS3 19391 Suppressor of cytokine signaling 3 NM_003955.4 -1 2737 678 NP_003946.3 O14543 substitution 3'UTR GRCh37 76354469 76354469 Chr17(GRCh37):g.76354469C>T *30 *30 NM_003955.4:c.*30G>A p.? p.? 2 604176 796 3' 81.8153 X.62 0.947551 XII.75 81.8153 X.62 0.947551 XII.75 0 rs72899753 yes no Frequency/1000G 2 C 0.000000 0 0.003195 0.001500 0.002000 0.000000 0.011900 0.000000 0.007597 0.002021 0.000931 0.002079 0.000000 0.002081 0.011161 0.018721 0.007161 0.018721 2093 48 32 21 0 64 1402 480 46 275502 23752 34380 10100 18832 30756 125618 25640 6424 0.000123 0.000000 0.000000 0.000000 0.000000 0.000000 0.000191 0.000312 0.000311 17 0 0 0 0 0 12 4 1 2059 48 32 21 0 64 1378 472 44 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8524 4393 12917 74 5 79 0.00860665 0.00113688 0.00607879 0.00860665 0.00113688 0.00607879 19 transition G A G>A 0.000 0.609 255 PASS 0.0041 0.01 . . 0.01 0.0015 0.0032 . . 0.012 0.002 . . . . . 0.4848485 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 66.0 . . . 0.0011 0.0061 0.0086 0.0011 0.0061 0.0086 . I.80 . . . . . . . . 8.144e-03 . . . 0.0015 0.0058 0.0009 0 0.0196 0.0090 0.0104 0.0023 0.0013 0.0083 0.0008 0 0.0209 0.0125 0.0120 0.0023 . . . . . . UTR3 UTR3 UTR3 . . . 0.0032 . . . 0.61 0.61 182 ENSG00000184557 SOCS3 SOCS3 ENST00000330871:c.*30G>A uc002jvl.2:c.*30G>A NM_003955:c.*30G>A . . . 547 0.00841849 64976 531 0.00885207 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72899753 0.022 0.072 . . . . . . . . . . . . . . . . . . . . . 0.006079 . . . . . 0.0018 0.0075 0.0010 0.0020 0 0.0182 0.0113 0.0064 0.0021 0.0024 0.0086 0 0.0033 0 0.0218 0.0105 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . rs72899753 rs72899753 rs72899753 1 1538 10 1/0 0,255,255 +rs200541156 17 76374763 C T - PGS1 30029 Phosphatidylglycerophosphate synthase 1 NM_024419.4 1 2328 1671 NP_077733.3 Q32NB8 substitution missense exon GRCh37 76374763 76374763 Chr17(GRCh37):g.76374763C>T 17 17 NM_024419.4:c.17C>T p.Ala6Val p.Ala6Val 1 614942 -127 5' 87.2541 7.65636 0.864476 XII.36 87.2541 7.65636 0.864476 XII.36 0 rs200541156 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.006125 0.001812 0.000340 0.001337 0.000000 0.000877 0.010041 0.017551 0.005605 0.017551 967 23 8 10 0 19 674 209 24 157890 12690 23508 7478 9224 21672 67128 11908 4282 0.000165 0.000000 0.000000 0.000000 0.000000 0.000000 0.000298 0.000504 0.000000 13 0 0 0 0 0 10 3 0 941 23 8 10 0 19 654 203 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7196 3337 10533 50 3 53 0.00690036 0.000898204 0.00500661 0.00690036 0.000898204 0.00500661 6 COSM4988895|COSM4988895 Soft tissue|Large intestine 0.003676|0.000448 544|2231 transition C T C>T 1.000 2.707 A Ala GCA 0.226 V Val GTA 0.114 6 13 6 Tetraodon 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS . 0. . . . . 0.0004 . . 0.001 0.001 . PGS1:uc002jvm.3:exon1:c.C17T:p.A6V PGS1:NM_024419:exon1:c.C17T:p.A6V . . 0.4883721 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.376 . @ . . . . . 1 0.585 . . 43.0 . . . 0.0009 0.005 0.0069 0.0009 0.005 0.0069 . 0.2582 0.167 0.258 c . . . . . 5.339e-03 . . . 0.0038 0.0066 0.0021 0 0.1154 0.0156 0.0076 0.0012 0.0021 0.0162 0.0022 0 0.1034 0.0396 0.0161 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.408 0.0004 . . . 0.61 0.49 182 ENSG00000087157 PGS1 PGS1 . . . 1.0 0.983 . 403 0.00620229 64976 394 0.0065682 59986 Uncertain_significance . 0 . 0.318 . . . . . . . . . 37 . 0.560 . . 0.637 . . . 0.170 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.131 . . 0 0 0 0 0 0 . 0.574 . . 0.653 . . . . . . 1 0.477 . . . . . 0.564 . 0.375 . HET 0 rs200541156 . 0.043 . . . . . 0.0 0.0 0.0 0.0 0.0 XII.84 7.39E-4 ENST00000262764 III.65 III.65 . 0.040000 Q32NB8 . . . 0.005007 . 0.319 . . III.65 0.0013 0.0058 0.0004 0.0013 0 0.0157 0.0105 0.0042 0.0009 0.0021 0.0075 0 0.0033 0 0.0221 0.0083 0.0102 . . 0.040 . 1.995 1.995000 . . 0.040000 . . 1.0E-255 0.984 0.356 . 0.150 0.947 . 0.354 . 0.341 1.995 0.356 0.0069 . . rs200541156 rs200541156 1 1538 10 1/0 0,255,255 +rs72914863 17 76419984 G A - DNAH17 2946 Dynein, axonemal, heavy chain 17 NM_173628.3 -1 13723 13389 NP_775899.3 substitution 3'UTR GRCh37 76419984 76419984 Chr17(GRCh37):g.76419984G>A *3 *3 NM_173628.3:c.*3C>T p.? p.? 81 610063 251 3' 89.7307 8.1053 0.685302 X.84 89.7307 8.1053 0.685302 X.84 0 rs72914863 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.001500 0.001000 0.001000 0.007000 0.000000 0.006019 0.001915 0.000639 0.001183 0.000477 0.002762 0.008553 0.014368 0.006339 0.014368 1667 46 22 12 9 85 1082 370 41 276950 24026 34418 10140 18870 30778 126498 25752 6468 0.000101 0.000000 0.000000 0.000000 0.000000 0.000065 0.000142 0.000233 0.000309 14 0 0 0 0 1 9 3 1 1639 46 22 12 9 83 1064 364 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4399 12939 60 7 67 0.00697674 0.00158874 0.00515147 0.00697674 0.00158874 0.00515147 110 transition C T C>T 0.000 -0.198 255 PASS 0.0041 0.0032 . . 0.01 0.0015 0.0022 . 0.001 0.007 0.001 . . . . . 0.5412844 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . 0.0016 0.0052 0.007 0.0016 0.0052 0.007 . -0.0528 . . . . . . . . 6.835e-03 . . . 0.0015 0.0043 0.0004 0.0004 0.0155 0.0060 0.0084 0.0030 0.0013 0.0068 0.0004 0.0001 0.0160 0.0100 0.0115 0.0030 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.24 0.36 182 ENSG00000187775 DNAH17 DNAH17 . . NM_173628:c.*3C>T . . . 407 0.00626385 64976 396 0.00660154 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72914863 0.011 0.065 . . . . . . . . . . . . . . . . . . . . . 0.005151 . . . . . 0.0018 0.0060 0.0007 0.0011 0.0005 0.0138 0.0087 0.0060 0.0028 0.0021 0.0064 0 0.0033 0.0006 0.0178 0.0072 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72914863 rs72914863 rs72914863 1 1538 10 1/0 0,252,255 +rs72914863 17 76419984 G A - PGS1 30029 Phosphatidylglycerophosphate synthase 1 NM_024419.4 1 2328 1671 NP_077733.3 Q32NB8 substitution intron GRCh37 76419984 76419984 Chr17(GRCh37):g.76419984G>A *11-158 *11-158 NM_024419.4:c.*11-158G>A p.? p.? 10 9 614942 -158 3' 75.7212 6.94416 0.434137 6.17729 75.7212 6.94416 0.434137 6.17729 0 rs72914863 yes no Frequency/1000G 2 G 0.000000 0 0.002196 0.001500 0.001000 0.001000 0.007000 0.000000 0.006019 0.001915 0.000639 0.001183 0.000477 0.002762 0.008553 0.014368 0.006339 0.014368 1667 46 22 12 9 85 1082 370 41 276950 24026 34418 10140 18870 30778 126498 25752 6468 0.000101 0.000000 0.000000 0.000000 0.000000 0.000065 0.000142 0.000233 0.000309 14 0 0 0 0 1 9 3 1 1639 46 22 12 9 83 1064 364 39 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8540 4399 12939 60 7 67 0.00697674 0.00158874 0.00515147 0.00697674 0.00158874 0.00515147 110 transition G A G>A 0.000 -0.198 255 PASS 0.0041 0.0032 . . 0.01 0.0015 0.0022 . 0.001 0.007 0.001 . . . . . 0.5412844 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . 0.0016 0.0052 0.007 0.0016 0.0052 0.007 . -0.0528 . . . . . . . . 6.835e-03 . . . 0.0015 0.0043 0.0004 0.0004 0.0155 0.0060 0.0084 0.0030 0.0013 0.0068 0.0004 0.0001 0.0160 0.0100 0.0115 0.0030 . . . . . . UTR3 UTR3 UTR3 . . . 0.0022 . . . 0.24 0.36 182 ENSG00000187775 DNAH17 DNAH17 . . NM_173628:c.*3C>T . . . 407 0.00626385 64976 396 0.00660154 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72914863 0.011 0.065 . . . . . . . . . . . . . . . . . . . . . 0.005151 . . . . . 0.0018 0.0060 0.0007 0.0011 0.0005 0.0138 0.0087 0.0060 0.0028 0.0021 0.0064 0 0.0033 0.0006 0.0178 0.0072 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72914863 rs72914863 rs72914863 1 1538 10 1/0 0,252,255 +rs72851220 17 76888319 G A - CEP295NL 44659 CEP295 N-terminal like NM_001243540.1 -1 2106 1866 NP_001230469.1 Q96MC4 substitution synonymous exon GRCh37 76888319 76888319 Chr17(GRCh37):g.76888319G>A 267 267 NM_001243540.1:c.267C>T p.Gly89= p.Gly89Gly 3 223 3' 81.6672 X.93 0.992168 13.3332 81.6672 X.93 0.992168 13.3332 0 Cryptic Donor Strongly Activated 76888321 67.3122 4.41481 0.171021 77.1596 rs72851220 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.007000 0.000000 0.005966 0.001499 0.000851 0.000000 0.000000 0.002567 0.007971 0.018743 0.005396 0.018743 1047 23 21 0 0 58 539 380 26 175492 15344 24686 8410 11748 22594 67618 20274 4818 0.000125 0.000000 0.000000 0.000000 0.000000 0.000000 0.000148 0.000592 0.000000 11 0 0 0 0 0 5 6 0 1025 23 21 0 0 58 529 368 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -3.426 G Gly GGC 0.342 G Gly GGT 0.162 89 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.007 0.001 ENSG00000178404:ENST00000322630:exon3:c.C267T:p.G89G . . . . 0.5 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.4706 . . . . . . . . 3.654e-03 . . . 0.0011 0.0032 0.0034 0 0.0395 0.0045 0 0.0025 0 0.0047 0.0045 0 0.0186 0.0040 0 0.0025 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.35 0.31 182 ENSG00000178404 LOC100653515 CEP295NL . . . . . . 482 0.00741812 64976 475 0.00791851 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs72851220 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0057 0.0008 0 0 0.0182 0.0078 0.0050 0.0026 0.0016 0.0073 0.0012 0 0 0.0212 0.0086 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs72851220 rs72851220 rs72851220 1 1538 10 1/0 0,236,255 +rs72851220 17 76888319 G A - TIMP2 11821 TIMP metallopeptidase inhibitor 2 NM_003255.4 -1 3655 663 NP_003246.1 P16035 substitution intron GRCh37 76888319 76888319 Chr17(GRCh37):g.76888319G>A 131-18318 131-18318 NM_003255.4:c.131-18318C>T p.? p.? 2 1 188825 -18318 3' 89.1687 10.292 0.928786 XI.24 89.1687 10.292 0.928786 XI.24 0 Cryptic Donor Strongly Activated 76888321 67.3122 4.41481 0.171021 77.1596 rs72851220 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.007000 0.000000 0.005966 0.001499 0.000851 0.000000 0.000000 0.002567 0.007971 0.018743 0.005396 0.018743 1047 23 21 0 0 58 539 380 26 175492 15344 24686 8410 11748 22594 67618 20274 4818 0.000125 0.000000 0.000000 0.000000 0.000000 0.000000 0.000148 0.000592 0.000000 11 0 0 0 0 0 5 6 0 1025 23 21 0 0 58 529 368 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -3.426 255 PASS . 0.0018 . . 0.01 . 0.0016 . . 0.007 0.001 ENSG00000178404:ENST00000322630:exon3:c.C267T:p.G89G . . . . 0.5 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.4706 . . . . . . . . 3.654e-03 . . . 0.0011 0.0032 0.0034 0 0.0395 0.0045 0 0.0025 0 0.0047 0.0045 0 0.0186 0.0040 0 0.0025 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.35 0.31 182 ENSG00000178404 LOC100653515 CEP295NL . . . . . . 482 0.00741812 64976 475 0.00791851 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs72851220 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0057 0.0008 0 0 0.0182 0.0078 0.0050 0.0026 0.0016 0.0073 0.0012 0 0 0.0212 0.0086 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs72851220 rs72851220 rs72851220 1 1538 10 1/0 0,236,255 +rs140962076 17 77078356 C T - ENGASE 24622 Endo-beta-N-acetylglucosaminidase NM_001042573.2 1 4494 2232 NP_001036038.1 Q8NFI3 substitution intron GRCh37 77078356 77078356 Chr17(GRCh37):g.77078356C>T 1038+211 1038+211 NM_001042573.2:c.1038+211C>T p.? p.? 7 7 611898 211 5' 85.2503 8.22968 0.83792 XI.22 85.2503 8.22968 0.83792 XI.22 0 rs140962076 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.001500 0.000000 0.000000 0.006000 0.007200 0.003852 0.000468 0.004741 0.029169 0.000000 0.000514 0.003691 0.000320 0.007605 0.029169 567 7 110 191 0 10 214 3 32 147214 14968 23200 6548 11466 19468 57978 9378 4208 0.000041 0.000000 0.000086 0.000611 0.000000 0.000000 0.000000 0.000000 0.000000 3 0 1 2 0 0 0 0 0 561 7 108 187 0 10 214 3 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.125 255 PASS 0.002 0.0018 0.0028 . 0.0026 0.0015 0.0026 0.0072 . 0.006 . . . . . . 0.5233645 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . INTRON(MODIFIER||||ENGASE|mRNA|CODING|NM_001042573|) . . . . . . . 0.5811 . . . . . . . . 1.837e-03 . . . 0.0036 0.0084 0.0120 0 0 0.0187 0.0204 0.0014 0 0.0084 0.0145 0 0 0.0298 0.0294 0.0014 . . . . . . UTR3 UTR5\x3bUTR3 intronic . . . 0.0026 . . . 0.19 0.34 182 ENSG00000167280 ENGASE\x3bENGASE ENGASE . . . . . . 237 0.0036475 64976 224 0.0037342 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140962076 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0042 0.0047 0.0293 0 0.0005 0.0035 0.0096 0.0005 0.0003 0.0025 0.0048 0.0265 0 0 0.0041 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs140962076 rs140962076 1 1538 10 1/0 0,255,255 +. 17 77086851 G GTT - RBFOX3 27097 RNA binding protein, fox-1 homolog 3 NM_001082575.2 -1 2990 939 NP_001076044.1 A6NFN3 duplication 3'UTR GRCh37 77086851 77086852 Chr17(GRCh37):g.77086852_77086853dup *112 *113 NM_001082575.2:c.*112_*113dup p.? p.? 15 616999 116 3' 84.276 X.85 0.677035 7.42414 84.276 X.85 0.677035 7.42414 0 0.000284 0.000607 0.001404 0.000000 0.000623 0.000000 0.000072 0.000000 0.000000 0.001404 8 5 1 0 1 0 1 0 0 28178 8240 712 280 1606 0 13882 2598 860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 3 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes AA 255 Pass . . . . . . . . . . . . . . . . 0.45652175 . . . 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000167281 RBFOX3 RBFOX3 . uc010dhs.4:c.*113_*114insAA NM_001082575:c.*113_*114insAA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0003 0.0014 0 0.0006 0 7.204e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +. 17 78064148 GAC G - CCDC40 26090 Coiled-coil domain containing 40 NM_017950.3 1 4298 3429 NP_060420.2 Q4G0X9 deletion intron GRCh37 78064149 78064150 Chr17(GRCh37):g.78064149_78064150del 2832+466 2832+467 NM_017950.3:c.2832+466_2832+467del p.? p.? 17 17 613799 466 5' 90.3122 9.15773 0.952303 XII.83 90.3122 9.15773 0.952303 XII.83 0 rs570440845 yes no Frequency/1000G 2 0.002596 - 13 0.002596 0.002300 0.001000 0.000000 0.006000 0.004300 0.003907 0.001298 0.003254 0.005309 0.000000 0.001786 0.006601 0.000251 0.003994 0.006601 580 16 79 43 0 40 383 2 17 148470 12322 24276 8100 11122 22398 58024 7972 4256 0.001401 0.000487 0.000577 0.001481 0.000000 0.000357 0.002757 0.000000 0.001880 104 3 7 6 0 4 80 0 4 372 10 65 31 0 32 223 2 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes AC 255 Pass . . . . . 0.0023 0.0026 0.0043 . 0.006 0.001 ENSG00000141519:ENST00000374877:exon18:c.3044_3045del:p.D1015fs CCDC40:uc021uem.1:exon18:c.3044_3045del:p.D1015fs CCDC40:NM_001243342:exon18:c.3044_3045del:p.D1015fs . . 0.58536583 . . . 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 164 . . . . . . . . . . . . . . . . . . . 5.397e-03 . . . 0 0.0051 0.0164 0 . 0.0083 0.0086 0.0038 0 0.0047 0.0172 0 0 0.0072 0.0088 0.0038 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000141519 CCDC40 CCDC40 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs570440845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0041 0.0034 0.0053 0 0 0.0069 0.0048 0.0018 0.0011 0.0030 0 0.0048 0 0.0007 0.0055 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +rs5822325 17 78081529 G A - GAA 4065 Glucosidase alpha, acid NM_000152.4 1 3807 2859 NP_000143.2 P10253 substitution intron GRCh37 78081529 78081529 Chr17(GRCh37):g.78081529G>A 858+8 858+8 NM_000152.4:c.858+8G>A p.? p.? 4 4 606800 8 5' 62.8235 V.28 0.037906 XI.84 62.8235 V.28 0.047666 X.32 0.0858263 rs5822325 yes no Frequency 1 A benign 0.000000 0 0.005247 0.009141 0.001397 0.003622 0.007181 0.001571 0.006857 0.003074 0.004315 0.009141 1292 189 42 34 115 44 769 75 24 246246 20676 30066 9386 16014 28000 112144 24398 5562 0.001754 0.001935 0.000399 0.002344 0.000624 0.000500 0.002764 0.000902 0.000360 216 20 6 11 5 7 155 11 1 860 149 30 12 105 30 459 53 22 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes RCV000117108.4 germline|germline clinical testing|clinical testing Benign 2 not specified COSM5414173 Haematopoietic and lymphoid tissue 0.001416 3530 transition G A G>A 0.000 -0.037 224 PASS . . . . . . . . . . . . . . . . 0.2264151 . . germline 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Benign Benign RCV000117108.4 not_specified MedGen CN169374 2 . . . 106.0 . . . . . . . . . . -0.0444 . . . . . . . . 9.174e-03 . . . 0.0084 0.0054 0.0014 0.0096 0.0044 0.0073 0.0063 0.0013 0.0080 0.0040 0.0011 0.0072 0.0027 0.0047 0.0015 0.0012 . . . . . . intronic intronic intronic . . . @ . . . 0.15 0.2 182 ENSG00000171298 GAA GAA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs5822325 0.011 0.007 . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000117108.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dmult\x3bCLNACC\x3dRCV000117108.3\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_multiple_submitters\x2c_no_conflicts\x3bCLNACC\x3dRCV000117108.3\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . 0 0.002 . . . . . . . 0.0153 0.0059 0.0014 0.0037 0.0078 0.0036 0.0078 0.0050 0.0016 0 0.0002 0.0012 0 0.0013 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . 0.011 rs28684874 rs28684874 rs28684874 rs28684874 1 1538 10 1/0 0,236,255 +rs41299328 17 78388947 G T - ENDOV 26640 Endonuclease V NM_001352760.1 1 1406 930 NP_001339689.1 substitution upstream GRCh37 78388947 78388947 Chr17(GRCh37):g.78388947G>T -48 -48 NM_001352760.1:c.-48G>T p.? p.? 1 -104 5' 73.3676 6.53385 0.539801 7.81639 73.3676 6.53385 0.539801 7.81639 0 rs41299328 yes no Frequency/1000G 2 G 0.000000 0 0.006190 0.000000 0.014300 0.000000 0.014900 0.002900 0.006316 0.000794 0.003904 0.003639 0.000000 0.008092 0.009612 0.001887 0.006907 0.009612 1678 18 131 36 0 240 1164 46 43 265676 22664 33554 9894 18198 29658 121102 24380 6226 0.000098 0.000000 0.000000 0.000000 0.000000 0.000405 0.000116 0.000000 0.000000 13 0 0 0 0 6 7 0 0 1652 18 131 36 0 228 1150 46 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8227 4051 12278 93 7 100 0.0111779 0.00172499 0.00807885 0.0111779 0.00172499 0.00807885 23 transversion G T G>T 0.000 -1.489 255 PASS . 0.0041 0.0028 . 0.01 . 0.0062 0.0029 . 0.015 0.014 . . . . . 0.42677826 . . @ 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 239.0 . . . 0.0017 0.0081 0.011 0.0017 0.0081 0.011 . 0.8168 . . . . . . . . 5.920e-03 . . . 0.0014 0.0097 0.0052 0 0.0033 0.0146 0.0153 0.0090 0.0016 0.0093 0.0054 0 0.0039 0.0126 0.0142 0.0090 . . . . . . ncRNA_exonic UTR5 ncRNA_exonic . . . 0.0062 . . . 0.56 0.4 182 ENSG00000263069 LOC100294362 LOC100294362 . uc002jyi.2:c.-28C>A . . . . 465 0.00715649 64976 435 0.00725169 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs41299328 . . . . . . . . . . . . . . . . . . . . . . . 0.008079 . . . . . 0.0007 0.0064 0.0039 0.0038 0 0.0018 0.0096 0.0069 0.0081 0.0009 0.0054 0.0036 0 0 0.0026 0.0094 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs41299328 rs41299328 rs41299328 rs41299328 1 1538 10 1/0 0,217,244 +rs200194139 17 78389460 C G - ENDOV 26640 Endonuclease V NM_001352760.1 1 1406 930 NP_001339689.1 substitution missense exon GRCh37 78389460 78389460 Chr17(GRCh37):g.78389460C>G 67 67 NM_001352760.1:c.67C>G p.Arg23Gly p.Arg23Gly 2 11 3' 85.1706 9.55328 0.972292 11.0109 85.1706 9.55328 0.981228 X.58 0.00306355 rs200194139 yes no Frequency/1000G 2 C 0.000000 0 0.000026 0.000000 0.000029 0.000099 0.000000 0.000000 0.000041 0.000000 0.000000 0.000099 7 0 1 1 0 0 5 0 0 271158 23528 34088 10056 18682 30270 122644 25534 6356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 1 1 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.472 0.609 R Arg CGG 0.207 G Gly GGG 0.250 23 12 8 Tetraodon -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 257.76 0.00 Deleterious 0.03 III.85 255 PASS . . . . . . . . . . . . . . . . 0.424 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.292 . @ . . . . . 1 0.675 . . 125.0 . . . . . . . . . . -0.2212 -0.378 -0.221 c . . . . . 2.400e-05 . . . 0 4.292e-05 0.0001 0 0 5.981e-05 0 0 0 2.427e-05 0.0001 0 0 2.306e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.464 . . exonic exonic exonic . . 0.199 0.0002 . . . 0.66 0.3 182 ENSG00000173818 ENDOV ENDOV . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.300 . . . . D 0.612 0.044 . . 37 . 0.525 . . 0.569 . . . 0.859 0.364 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.765 . . 0 0 0 0 0 0 . 0.629 . . 0.577 . . . . . . 0 0.486 . . . . . 0.181 . 0.315 . HET 0.12 rs200194139 . . . . . . . . . . . . V.69 . . IV.32 I.17 . 0.130000 . . . . . . 0.177 . . . 0 2.498e-05 3.007e-05 0.0001 0 0 3.716e-05 0 0 0 3.229e-05 0 0 0 0 6.661e-05 0 . . 0.072 . -0.008 -0.008000 . . 0.130000 . . 1.0E-255 0.045 0.210 . 0.330 0.968 . 0.285 . 0.325 -0.008 0.871 . . . . . 1 1538 10 1/0 0,244,255 +rs8081830 17 79093137 G A - AATK 21 Apoptosis-associated tyrosine kinase NM_001080395.2 -1 5312 4125 NP_001073864.2 Q6ZMQ8 substitution intron GRCh37 79093137 79093137 Chr17(GRCh37):g.79093137G>A 4084+43 4084+43 NM_001080395.2:c.4084+43C>T p.? p.? 13 13 605276 43 5' 87.5642 8.40856 0.988451 15.9271 87.5642 8.40856 0.988451 16.0001 0 rs8081830 yes no Frequency 1 G 0.000000 0 0.004670 0.005032 0.000489 0.106996 0.001515 0.005460 0.002053 0.000976 0.001748 0.106996 94 11 3 52 1 12 12 2 1 20128 2186 6130 486 660 2198 5846 2050 572 0.000199 0.000000 0.000000 0.008230 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 0 2 0 0 0 0 0 90 11 3 48 1 12 12 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.198 227 PASS . . . . . . . . . . . . . . . . 0.23728813 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.7068 . . . . . . . . 1.775e-03 . . . 0.0152 0.0190 0 0 0 0.0507 0 0.0125 0.01 0.0152 0 0 0 0.0326 0 0.0125 . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.41 182 ENSG00000181409 AATK AATK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs8081830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0059 0.0005 0.1129 0.0023 0.0024 0.0033 0.0033 0.0055 0.0053 0.0022 0 0.0577 0 0 0.0007 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs8081830 rs8081830 rs8081830 rs8081830 1 1538 10 1/0 0,255,255 +rs8081830 17 79093137 G A - BAIAP2 947 BAI1-associated protein 2 NM_017451.2 1 2894 1659 NP_059345.1 Q9UQB8 substitution downstream GRCh37 79093137 79093137 Chr17(GRCh37):g.79093137G>A *3032 *3032 NM_017451.2:c.*3032G>A p.? p.? 15 605475 3108 3' 87.2759 5.67573 0.342682 VIII.92 87.2759 5.67573 0.342682 VIII.92 0 rs8081830 yes no Frequency 1 G 0.000000 0 0.004670 0.005032 0.000489 0.106996 0.001515 0.005460 0.002053 0.000976 0.001748 0.106996 94 11 3 52 1 12 12 2 1 20128 2186 6130 486 660 2198 5846 2050 572 0.000199 0.000000 0.000000 0.008230 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 0 2 0 0 0 0 0 90 11 3 48 1 12 12 2 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.198 227 PASS . . . . . . . . . . . . . . . . 0.23728813 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . 0.7068 . . . . . . . . 1.775e-03 . . . 0.0152 0.0190 0 0 0 0.0507 0 0.0125 0.01 0.0152 0 0 0 0.0326 0 0.0125 . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.41 182 ENSG00000181409 AATK AATK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs8081830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0059 0.0005 0.1129 0.0023 0.0024 0.0033 0.0033 0.0055 0.0053 0.0022 0 0.0577 0 0 0.0007 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs8081830 rs8081830 rs8081830 rs8081830 1 1538 10 1/0 0,255,255 +rs8064471 17 79093142 C T - AATK 21 Apoptosis-associated tyrosine kinase NM_001080395.2 -1 5312 4125 NP_001073864.2 Q6ZMQ8 substitution intron GRCh37 79093142 79093142 Chr17(GRCh37):g.79093142C>T 4084+38 4084+38 NM_001080395.2:c.4084+38G>A p.? p.? 13 13 605276 38 5' 87.5642 8.40856 0.988451 15.9271 87.5642 8.40856 0.988451 15.2724 0 rs8064471 yes no Frequency/1000G 2 C 0.000000 0 0.542332 0.554500 0.545000 0.571400 0.559600 0.448100 0.001191 0.001362 0.000445 0.012541 0.000574 0.001014 0.000614 0.000129 0.000410 0.012541 101 13 6 46 2 12 20 1 1 84770 9548 13488 3668 3482 11840 32550 7756 2438 0.000071 0.000000 0.000000 0.001091 0.000000 0.000000 0.000061 0.000000 0.000000 3 0 0 2 0 0 1 0 0 35 6 5 6 2 5 9 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.044 249 PASS . . . . . 0.55 0.54 0.45 0.57 0.56 0.55 . . . . . 0.3043478 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.4120 . . . . . . . . 1.371e-03 . . . 0.0039 0.0023 0 0 0 0.0040 0.0085 0.0010 0.0033 0.0018 0 0 0 0.0029 0.0093 0.0010 . . . . . . intronic intronic intronic . . . 0.4577 . . . 0.26 0.4 182 ENSG00000181409 AATK AATK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs8064471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0016 0.0005 0.0128 0.0011 0.0002 0.0010 0.0007 0.0010 0.0012 0.0005 0 0.0101 0 0 0.0001 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . rs8064471 rs8064471 rs8064471 rs8064471 1 1538 10 1/0 0,255,255 +rs8064471 17 79093142 C T - BAIAP2 947 BAI1-associated protein 2 NM_017451.2 1 2894 1659 NP_059345.1 Q9UQB8 substitution downstream GRCh37 79093142 79093142 Chr17(GRCh37):g.79093142C>T *3037 *3037 NM_017451.2:c.*3037C>T p.? p.? 15 605475 3113 3' 87.2759 5.67573 0.342682 VIII.92 87.2759 5.67573 0.342682 VIII.92 0 rs8064471 yes no Frequency/1000G 2 C 0.000000 0 0.542332 0.554500 0.545000 0.571400 0.559600 0.448100 0.001191 0.001362 0.000445 0.012541 0.000574 0.001014 0.000614 0.000129 0.000410 0.012541 101 13 6 46 2 12 20 1 1 84770 9548 13488 3668 3482 11840 32550 7756 2438 0.000071 0.000000 0.000000 0.001091 0.000000 0.000000 0.000061 0.000000 0.000000 3 0 0 2 0 0 1 0 0 35 6 5 6 2 5 9 1 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 0.044 249 PASS . . . . . 0.55 0.54 0.45 0.57 0.56 0.55 . . . . . 0.3043478 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . 0.4120 . . . . . . . . 1.371e-03 . . . 0.0039 0.0023 0 0 0 0.0040 0.0085 0.0010 0.0033 0.0018 0 0 0 0.0029 0.0093 0.0010 . . . . . . intronic intronic intronic . . . 0.4577 . . . 0.26 0.4 182 ENSG00000181409 AATK AATK . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs8064471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0028 0.0016 0.0005 0.0128 0.0011 0.0002 0.0010 0.0007 0.0010 0.0012 0.0005 0 0.0101 0 0 0.0001 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . rs8064471 rs8064471 rs8064471 rs8064471 1 1538 10 1/0 0,255,255 +rs374207758 (chr17:79390345 G/A) 17 79390345 G A Not on a known gene +rs368255999 (chr17:79390349 A/C) 17 79390349 A C Not on a known gene +rs192074123 (chr17:79390404 G/A) 17 79390404 G A Not on a known gene +rs371226965 17 79418965 C T - MIR3186 38311 MicroRNA 3186 NR_036152.1 -1 85 0 substitution upstream GRCh37 79418965 79418965 Chr17(GRCh37):g.79418965C>T -751 -751 NR_036152.1:n.-751G>A p.? p.? 1 rs371226965 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000356 0.000000 0.000000 0.000000 0.000000 0.002037 0.000336 0.000168 0.000697 0.002037 36 0 0 0 0 18 15 1 2 101154 13906 13634 2686 8572 8836 44680 5970 2870 0.000040 0.000000 0.000000 0.000000 0.000000 0.000453 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 32 0 0 0 0 14 15 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 7803 3572 11375 1 0 1 0.000128139 0 8.79044e-05 0.000128139 0 8.79044e-05 6 transition G A G>A 0.000 -0.602 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.55263156 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.1409 . . . . . . . . 2.142e-04 . . . 0 0.0008 0 0 0 0.0004 0 0.0042 0 0.0009 0 0 0 0.0004 0 0.0042 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.17 0.32 182 ENSG00000171282 BAHCC1 BAHCC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371226965 . . . . . . . . . . . . . . . . . . . . . . . 0.000088 . . . . . 0 0.0004 0 0 0 0.0004 0.0003 0.0011 0.0020 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs371226965 rs371226965 1 1538 10 1/0 0,255,255 +rs34675304 17 79683997 T G - SLC25A10 10980 "Solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10" NM_001270953.1 1 1911 1221 NP_001257882.1 substitution intron GRCh37 79683997 79683997 Chr17(GRCh37):g.79683997T>G 464-35 464-35 NM_001270953.1:c.464-35T>G p.? p.? 7 6 606794 -35 3' 86.0246 10.0537 0.828084 9.45156 86.0246 10.0537 0.828084 9.35558 0 rs34675304 yes no Frequency/1000G 2 T 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.000000 0.000068 1 0 0 0 0 0 1 0 0 30506 8564 832 296 1610 0 14764 3474 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 48 Genomes transversion T G T>G 0.000 -1.732 231 PASS 0.3 0.2 0.25 0.08 0.21 . . . . . . . . . . . 0.24637681 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . . . . . . . . . -0.6065 . . . . . . . . 2.875e-04 . . . 0.0002 0.0004 0.0001 0 0 5.355e-05 0 0.0016 0.0003 0.0003 0.0001 0 0 8.2e-05 0 0.0016 . . . . . . intronic intronic intronic . . . @ . . . 0.15 0.07 182 . SLC25A10 SLC25A10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34675304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.278e-05 0 0 0 0 6.773e-05 0 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . 0.3 rs34675304 rs34675304 rs34675304 rs34675304 1 1538 10 1/0 0,226,255 +rs62077220 17 79684009 T G - SLC25A10 10980 "Solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10" NM_001270953.1 1 1911 1221 NP_001257882.1 substitution intron GRCh37 79684009 79684009 Chr17(GRCh37):g.79684009T>G 464-23 464-23 NM_001270953.1:c.464-23T>G p.? p.? 7 6 606794 -23 3' 86.0246 10.0537 0.828084 9.45156 86.0246 10.0537 0.828084 8.09801 0 rs62077220 yes no Frequency/1000G 2 T 0.000000 0 0.000610 0.000415 0.000161 0.000318 0.005019 0.000479 0.000242 0.000204 0.000000 0.005019 156 9 5 3 92 14 28 5 0 255896 21698 31022 9436 18332 29214 115644 24498 6052 0.000008 0.000000 0.000000 0.000000 0.000109 0.000000 0.000000 0.000000 0.000000 1 0 0 0 1 0 0 0 0 154 9 5 3 90 14 28 5 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.360 197 PASS 0.12 0.11 0.15 0.06 0.13 . . . . . . . . . . . 0.15267175 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . -0.2624 . . . . . . . . 9.033e-04 . . . 0.0007 0.0008 0.0007 0.0044 0 0.0005 0 0.0004 0.0007 0.0009 0.0008 0.0054 0.0002 0.0004 0.0018 0.0004 . . . . . . intronic intronic intronic . . . @ . . . 0.23 0.12 182 . SLC25A10 SLC25A10 . . . . . . 2612 0.0401995 64976 2196 0.0366085 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62077220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0007 0.0002 0.0003 0.0050 0.0002 0.0003 0 0.0005 0 0.0003 0 0 0.0050 0 6.735e-05 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.15 rs62077220 rs62077220 rs62077220 rs62077220 1 1538 10 1/0 0,219,255 +rs144193916 17 79966960 C T - ASPSCR1 13825 Alveolar soft part sarcoma chromosome region, candidate 1 NM_001251888.1 1 2125 1944 NP_001238817.1 substitution synonymous exon GRCh37 79966960 79966960 Chr17(GRCh37):g.79966960C>T 981 981 NM_001251888.1:c.981C>T p.Pro327= p.Pro327Pro 8 606236 48 3' 80.569 8.99966 0.526037 8.21699 80.569 8.99966 0.526037 7.84629 0 rs144193916 yes no Frequency 1 C 0.000000 0 0.001294 0.000470 0.000343 0.000000 0.000000 0.000305 0.001773 0.003827 0.001647 0.003827 288 9 10 0 0 8 173 79 9 222484 19154 29174 9140 15136 26216 97556 20644 5464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 288 9 10 0 0 8 173 79 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8563 4353 12916 9 1 10 0.00104993 0.000229674 0.000773635 0.00104993 0.000229674 0.000773635 23 transition C T C>T 0.047 -2.539 P Pro CCC 0.328 P Pro CCT 0.283 327 255 PASS . . . . . . . . . . . ENSG00000169696:ENST00000583503:exon5:c.C422T:p.P141L . . . . 0.5316456 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 79.0 . . . 0.0002 0.0008 0.001 0.0002 0.0008 0.001 . 0.1739 . . . . . . . . 1.062e-03 . . . 0.0009 0.0017 0.0008 0 0.0189 0.0031 0 0.0002 0.0007 0.0025 0.0008 0 0.0161 0.0048 0.0056 0.0002 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.29 182 ENSG00000169696 ASPSCR1 ASPSCR1 . . . . . . 83 0.00127739 64976 83 0.00138366 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144193916 . . . . . . . . . . . . . . . . . . . . . . . 0.000774 . . . . . 0.0006 0.0012 0.0004 0 0 0.0037 0.0017 0.0018 0.0003 0.0003 0.0017 0 0 0 0.0043 0.0023 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.001 . . rs144193916 rs144193916 1 1538 10 1/0 0,255,255 +. 17 79995490 C CGT - DCXR 18985 Dicarbonyl/L-xylulose reductase NM_016286.3 -1 829 735 NP_057370.1 Q7Z4W1 insertion intron GRCh37 79995490 79995491 Chr17(GRCh37):g.79995490_79995491insGT 52+16 52+17 NM_016286.3:c.52+16_52+17insAC p.? p.? 1 1 608347 16 5' 79.4718 7.92601 0.737477 XI.05 79.4718 7.92601 0.737477 X.92 0 AC 255 Pass . . . . . . . . . . . ENSG00000169738:ENST00000579155:exon1:c.68_69insAC:p.K23fs . . . . 0.5945946 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000169738 DCXR DCXR . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +rs376038243 17 80159734 G C - CCDC57 27564 Coiled-coil domain containing 57 NM_198082.3 -1 3078 2748 NP_932348.2 substitution synonymous exon GRCh37 80159734 80159734 Chr17(GRCh37):g.80159734G>C 87 87 NM_198082.3:c.87C>G p.Thr29= p.Thr29Thr 2 95 3' 87.7357 8.95263 0.908593 12.1213 87.7357 8.95263 0.908593 12.1213 0 Cryptic Acceptor Strongly Activated 80159730 0.000301 64.1367 0.850825 0.000471 64.1367 rs376038243 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.002048 0.000379 0.000698 0.000793 0.000000 0.000000 0.003583 0.002369 0.002024 0.003583 563 9 24 8 0 0 448 61 13 274874 23732 34364 10082 18796 30704 125018 25754 6424 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000078 0.000000 2 0 0 0 0 0 1 1 0 559 9 24 8 0 0 446 59 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8455 4247 12702 29 1 30 0.0034182 0.000235405 0.00235627 0.0034182 0.000235405 0.00235627 27 transversion C G C>G 0.134 0.125 T Thr ACC 0.361 T Thr ACG 0.116 29 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.48958334 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . 0.0002 0.0024 0.0034 0.0002 0.0024 0.0034 . 0.3722 . . . . . . . . 1.954e-03 . . . 0.0006 0.0016 0.0005 0 0.0024 0.0030 0.0030 0 0.0005 0.0019 0.0005 0 0.0023 0.0032 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.24 0.28 182 ENSG00000176155 CCDC57 CCDC57 . . . . . . 150 0.00230854 64976 149 0.00248391 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376038243 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.002356 . . . . . 0.0005 0.0021 0.0007 0.0006 0 0.0025 0.0037 0.0022 0 0.0002 0.0018 0.0012 0.0066 0 0.0014 0.003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs376038243 rs376038243 1 1538 10 1/0 0,255,255 +rs373585858 17 80394556 G A - HEXDC 26307 Hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing NM_173620.2 1 2222 1758 NP_775891.2 substitution synonymous exon GRCh37 80394556 80394556 Chr17(GRCh37):g.80394556G>A 645 645 NM_173620.2:c.645G>A p.Pro215= p.Pro215Pro 7 616864 14 3' 82.0796 X.61 0.655274 XII.02 82.0796 X.61 0.667838 XI.37 0.00639122 rs373585858 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.001000 0.000000 0.001000 0.000000 0.001724 0.000385 0.000147 0.000100 0.000000 0.001024 0.002664 0.003461 0.001270 0.003461 466 9 5 1 0 31 330 82 8 270334 23394 34090 9996 18706 30278 123878 23692 6300 0.000022 0.000000 0.000000 0.000000 0.000000 0.000198 0.000000 0.000000 0.000000 3 0 0 0 0 3 0 0 0 460 9 5 1 0 25 330 82 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8534 4284 12818 8 2 10 0.000936549 0.000466636 0.000779545 0.000936549 0.000466636 0.000779545 65 transition G A G>A 0.591 -1.328 P Pro CCG 0.115 P Pro CCA 0.274 215 255 PASS . . . . . . 0.0004 . . 0.001 0.001 . . HEXDC:NM_173620:exon7:c.G645A:p.P215P . . 0.3951613 . . @ 49 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P215|HEXDC|mRNA|CODING|NM_173620|NM_173620.ex.7) 0.0005 0.0008 0.0009 0.0005 0.0008 0.0009 . 0.6580 . . . . . . . . 2.042e-03 . . . 0.0008 0.0013 0 0 0.0049 0.0017 0.0018 0.0013 0.0006 0.0024 0 0 0.0039 0.0037 0.0019 0.0013 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.36 0.74 182 ENSG00000169660 HEXDC HEXDC . . . . . . 76 0.00116966 64976 74 0.00123362 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs373585858 . . . . . . . . . . . . . . . . . . . . . . . 0.000780 . . . . . 0.0004 0.0017 0.0002 0.0001 0 0.0035 0.0026 0.0011 0.0010 0.0003 0.0019 0 0 0 0.0034 0.0028 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . . rs373585858 rs373585858 1 1538 10 1/0 0,243,255 +rs538937116 17 80403732 C T - C17orf62 28672 Chromosome 17 open reading frame 62 NM_001033046.3 -1 2152 564 NP_001028218.1 Q9BQA9 substitution intron GRCh37 80403732 80403732 Chr17(GRCh37):g.80403732C>T 298+8 298+8 NM_001033046.3:c.298+8G>A p.? p.? 5 5 8 5' 86.3702 9.25272 0.990021 6.63104 86.3702 9.25272 0.993216 7.35664 0.00107573 rs538937116 yes no Frequency 1 C 0.000000 0 0.000084 0.000000 0.000152 0.000000 0.000055 0.000102 0.000101 0.000000 0.000162 0.000152 22 0 5 0 1 3 12 0 1 262232 22332 32828 9652 18232 29400 119328 24276 6184 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 5 0 1 3 12 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.440 255 PASS . . . . . . . . . . . . C17orf62:uc010dis.2:exon5:c.G306A:p.S102S . . . 0.50769234 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . 0.0636 . . . . . . . . 5.537e-05 . . . 0 0.0001 0.0003 0 0 0.0002 0 0.0001 0 8.395e-05 0.0003 0.0002 0 4.295e-05 0 0.0001 . synonymous_SNV . . . . intronic exonic intronic . . . @ . . . . . . ENSG00000178927 C17orf62 C17orf62 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs538937116 . . . . . . . . . . . . . . . . . . . . 0.0001 0 . . . . . . . 0 8.647e-05 0.0002 0 6.02e-05 0 9.584e-05 0.0002 0.0001 0 6.463e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs762919740 17 80724190 C T - TBCD 11581 Tubulin folding cofactor D NM_005993.4 1 4432 3579 NP_005984.3 Q9BTW9 substitution synonymous exon GRCh37 80724190 80724190 Chr17(GRCh37):g.80724190C>T 381 381 NM_005993.4:c.381C>T p.Ala127= p.Ala127Ala 4 604649 48 3' 88.8687 7.37226 0.995074 2.36907 88.8687 7.37226 0.995074 1.99838 0 rs762919740 yes no Frequency 1 T 0.000000 0 0.000016 0.000000 0.000060 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000060 4 0 2 0 0 0 2 0 0 245342 15196 33486 9820 17210 30564 111332 22276 5458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transition C T C>T 0.976 -0.198 A Ala GCC 0.403 A Ala GCT 0.263 127 255 PASS . . . . . . . . . . . . . TBCD:NM_005993:exon4:c.C381T:p.A127A . . 0.35714287 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 28.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A127|TBCD|mRNA|CODING|NM_005993|NM_005993.ex.4) . . . . . . . 0.1273 . . . . . . . . 3.197e-05 . . . 0 5.204e-05 0.0002 0 0 5.496e-05 0 0 0 2.238e-05 0.0002 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000141556 TBCD TBCD . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762919740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.63e-05 5.973e-05 0 0 0 1.796e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs868824426 (chr17:81081897 C/T) 17 81081897 C T Not on a known gene +rs368698678 (chr17:81081923 G/A) 17 81081923 G A Not on a known gene +rs866363505 (chr17:81082158 A/G) 17 81082158 A G Not on a known gene +rs866644968 (chr17:81082159 G/C) 17 81082159 G C Not on a known gene +rs796620368 (chr17:81082312 A/G) 17 81082312 A G Not on a known gene +rs866009080 (chr17:81082575 G/C) 17 81082575 G C Not on a known gene +rs879010887 (chr17:81082833 A/T) 17 81082833 A T Not on a known gene +rs879003927 (chr17:81082847 C/G) 17 81082847 C G Not on a known gene +rs367638315 (chr17:81082947 A/G) 17 81082947 A G Not on a known gene +rs373468120 (chr17:81083067 A/G) 17 81083067 A G Not on a known gene +rs796810373 (chr17:81083094 A/G) 17 81083094 A G Not on a known gene +rs376713232 (chr17:81083095 G/C) 17 81083095 G C Not on a known gene +. (chr17:81083103 A/G) 17 81083103 A G Not on a known gene +. (chr17:81083111 G/A) 17 81083111 G A Not on a known gene +rs867024879 (chr17:81083119 G/A) 17 81083119 G A Not on a known gene +rs192956572 (chr17:81083139 G/A) 17 81083139 G A Not on a known gene +rs878899263 (chr17:81083198 G/T) 17 81083198 G T Not on a known gene +rs865857294 (chr17:81083211 G/A) 17 81083211 G A Not on a known gene +rs28496825 (chr17:81083295 G/A) 17 81083295 G A Not on a known gene +rs28375063 (chr17:81083311 A/G) 17 81083311 A G Not on a known gene +rs187170715 17 81187935 G A - RPL23AP87 51578 Ribosomal protein L23a pseudogene 87 NR_029406.1 1 2256 0 substitution exon GRCh37 81187935 81187935 Chr17(GRCh37):g.81187935G>A 1618 1618 NR_029406.1:n.1618G>A 4 243 3' 74.5452 5.06609 0.532422 0 74.5452 5.06609 0.532422 0 0 rs187170715 yes no Frequency/1000G 2 0.000000 0 0.000043 0.000000 0.000229 0.000123 0.000000 0.000000 0.000020 0.000080 0.000000 0.000229 8 0 4 1 0 0 2 1 0 184864 8694 17504 8104 13188 21926 98174 12560 4714 0.000022 0.000000 0.000229 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 2 0 0 0 0 0 0 4 0 0 1 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 1.255 111 PASS 0.07 0.03 0.02 0.03 0.02 . . . . . . . . . . . 1.0 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 8.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A540T|RPL23AP87|Non-coding_transcript|NON_CODING|NR_029406|NR_029406.ex.4) . . . . . . . -0.9182 . . . . . . . . 3.347e-05 . . . 0 5.41e-05 0.0004 0 0 3.482e-05 0 0 0 4.231e-05 0.0004 0 0 2.45e-05 0 0 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.52 0.17 182 ENSG00000232938 FLJ43681 RPL23AP87 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM 1 rs187170715 . . . . . . . 0.034340659340659344 0.06707317073170732 0.024861878453038673 0.02972027972027972 0.021108179419525065 III.24 . ENST00000425566 0.109 0.109 . . . . . . . . . . . . 0 3.018e-05 0.0002 0 0 0 1.15e-05 0 0 0 0.0002 0 0.0046 0 0.0004 8.913e-05 0 . . . . -1.409 -1.409000 . . . . . 1.0E-111 . . . . . . . . . -1.409 . 0.07 . . rs3957343 rs187170715 1 1538 255 1.I 0,0,255 +rs376415183 18 112189 G A - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution downstream GRCh37 112189 112189 Chr18(GRCh37):g.112189G>A *67 *67 NR_107045.1:n.*67C>T p.? p.? 1 rs376415183 no no 0 0.000000 0 0.008456 0.007843 0.020270 0.006250 0.035156 0.000000 0.006320 0.026316 0.000000 0.035156 77 16 3 1 9 0 37 11 0 9106 2040 148 160 256 0 5854 418 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 16 3 1 9 0 37 11 0 0 0 0 0 0 0 0 0 0 RF 1237 Genomes transition C T C>T 0.000 -14.080 127 PASS . . . . . . . . . . . . . . . . 0.112068966 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 348.0 . . . . . . . . . . 0.5275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs376415183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0078 0.0085 0.0203 0.0063 0.0352 0.0263 0.0063 0 . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . rs376415183 rs376415183 1 1538 14 1/0 0,176,255 +rs376415183 18 112189 G A - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112189 112189 Chr18(GRCh37):g.112189G>A 389+2736 389+2736 NR_033770.1:n.389+2736G>A p.? p.? 1 1 2736 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 rs376415183 no no 0 0.000000 0 0.008456 0.007843 0.020270 0.006250 0.035156 0.000000 0.006320 0.026316 0.000000 0.035156 77 16 3 1 9 0 37 11 0 9106 2040 148 160 256 0 5854 418 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 77 16 3 1 9 0 37 11 0 0 0 0 0 0 0 0 0 0 RF 1237 Genomes transition G A G>A 0.000 -14.080 127 PASS . . . . . . . . . . . . . . . . 0.112068966 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 348.0 . . . . . . . . . . 0.5275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs376415183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0078 0.0085 0.0203 0.0063 0.0352 0.0263 0.0063 0 . . . . . . . . . . . 1.0E-127 . . . . . . . . . . . . . . rs376415183 rs376415183 1 1538 14 1/0 0,176,255 +rs796264817 18 112195 C A - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution downstream GRCh37 112195 112195 Chr18(GRCh37):g.112195C>A *61 *61 NR_107045.1:n.*61G>T p.? p.? 1 rs796264817 no no 0 0.000000 0 0.004327 0.006203 0.003704 0.000000 0.015086 0.000000 0.002558 0.005365 0.008108 0.015086 54 20 1 0 7 0 18 5 3 12480 3224 270 184 464 0 7036 932 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 20 1 0 7 0 18 5 3 0 0 0 0 0 0 0 0 0 RF 668 Genomes transversion G T G>T 0.000 -14.080 131 PASS . . . . . . . . . . . . . . . . 0.1143617 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 376.0 . . . . . . . . . . 0.5068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0062 0.0043 0.0037 0 0.0151 0.0054 0.0026 0.0081 . . . . . . . . . . . 1.0E-131 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,173,255 +rs796264817 18 112195 C A - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112195 112195 Chr18(GRCh37):g.112195C>A 389+2742 389+2742 NR_033770.1:n.389+2742C>A p.? p.? 1 1 2742 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 rs796264817 no no 0 0.000000 0 0.004327 0.006203 0.003704 0.000000 0.015086 0.000000 0.002558 0.005365 0.008108 0.015086 54 20 1 0 7 0 18 5 3 12480 3224 270 184 464 0 7036 932 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 20 1 0 7 0 18 5 3 0 0 0 0 0 0 0 0 0 RF 668 Genomes transversion C A C>A 0.000 -14.080 131 PASS . . . . . . . . . . . . . . . . 0.1143617 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 376.0 . . . . . . . . . . 0.5068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0062 0.0043 0.0037 0 0.0151 0.0054 0.0026 0.0081 . . . . . . . . . . . 1.0E-131 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,173,255 +rs759426987 18 112229 G T - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution downstream GRCh37 112229 112229 Chr18(GRCh37):g.112229G>T *27 *27 NR_107045.1:n.*27C>A p.? p.? 1 rs759426987 yes no Frequency 1 0.000000 0 0.005860 0.004631 0.002928 0.008915 0.005591 0.008635 0.005037 0.012201 0.006691 0.012201 519 34 43 46 30 116 179 53 18 88560 7342 14684 5160 5366 13434 35540 4344 2690 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 519 34 43 46 30 116 179 53 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -14.080 135 PASS . . . . . . . . . . . . . . . . 0.10405644 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 567.0 . . . . . . . . . . 0.5366 . . . . . . . . 4.622e-03 . . . 0.0215 0.0141 0 0 0 0.0124 0.0132 0.0151 0.0222 0.0144 0 0.0128 0 0.0131 0.0132 0.0151 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs759426987 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0056 0.0026 0.0089 0.0011 0.0109 0.0055 0.0072 0.0086 0.0069 0.0072 0.0174 0.0084 0.0386 0.0155 0.0036 0.0042 . . . . . . . . . . . 1.0E-135 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,153,255 +rs759426987 18 112229 G T - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112229 112229 Chr18(GRCh37):g.112229G>T 389+2776 389+2776 NR_033770.1:n.389+2776G>T p.? p.? 1 1 2776 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 Cryptic Acceptor Strongly Activated 112239 0.000881 68.7259 1.50853 0.005658 74.6594 rs759426987 yes no Frequency 1 0.000000 0 0.005860 0.004631 0.002928 0.008915 0.005591 0.008635 0.005037 0.012201 0.006691 0.012201 519 34 43 46 30 116 179 53 18 88560 7342 14684 5160 5366 13434 35540 4344 2690 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 519 34 43 46 30 116 179 53 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -14.080 135 PASS . . . . . . . . . . . . . . . . 0.10405644 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 567.0 . . . . . . . . . . 0.5366 . . . . . . . . 4.622e-03 . . . 0.0215 0.0141 0 0 0 0.0124 0.0132 0.0151 0.0222 0.0144 0 0.0128 0 0.0131 0.0132 0.0151 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs759426987 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0056 0.0026 0.0089 0.0011 0.0109 0.0055 0.0072 0.0086 0.0069 0.0072 0.0174 0.0084 0.0386 0.0155 0.0036 0.0042 . . . . . . . . . . . 1.0E-135 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,153,255 +rs752826038 18 112328 G T - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution exon GRCh37 112328 112328 Chr18(GRCh37):g.112328G>T 12 12 NR_107045.1:n.12C>A 1 rs752826038 yes no Frequency 1 0.000000 0 0.001408 0.000468 0.000000 0.004769 0.000582 0.001603 0.002171 0.003817 0.001282 0.004769 35 1 0 6 1 8 16 2 1 24864 2138 6084 1258 1718 4992 7370 524 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 1 0 6 1 8 16 2 1 0 0 0 0 0 0 0 0 0 RF 86 Exomes transversion C A C>A 0.000 -14.080 148 PASS . . . . . . . . . . . . . . . . 0.104417674 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 498.0 . . . . . . . . . . 0.0382 . . . . . . . . 2.391e-04 . . . 0 0.0040 0 0 . 0.0055 0 0.0029 0 0.0040 0 0 . 0.0055 0 0.0029 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_exonic . . . @ . . . 0.44 0.34 182 ENSG00000263006 ROCK1P1 MIR8078 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0014 0 0.0048 0.0006 0.0038 0.0022 0.0013 0.0016 . . . . . . . . . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,159,255 +rs752826038 18 112328 G T - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112328 112328 Chr18(GRCh37):g.112328G>T 389+2875 389+2875 NR_033770.1:n.389+2875G>T p.? p.? 1 1 2875 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 New Donor Site 112326 0.404739 0.008709 64.7876 rs752826038 yes no Frequency 1 0.000000 0 0.001408 0.000468 0.000000 0.004769 0.000582 0.001603 0.002171 0.003817 0.001282 0.004769 35 1 0 6 1 8 16 2 1 24864 2138 6084 1258 1718 4992 7370 524 780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 1 0 6 1 8 16 2 1 0 0 0 0 0 0 0 0 0 RF 86 Exomes transversion G T G>T 0.000 -14.080 148 PASS . . . . . . . . . . . . . . . . 0.104417674 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 498.0 . . . . . . . . . . 0.0382 . . . . . . . . 2.391e-04 . . . 0 0.0040 0 0 . 0.0055 0 0.0029 0 0.0040 0 0 . 0.0055 0 0.0029 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_exonic . . . @ . . . 0.44 0.34 182 ENSG00000263006 ROCK1P1 MIR8078 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0014 0 0.0048 0.0006 0.0038 0.0022 0.0013 0.0016 . . . . . . . . . . . . . . . . . . . 1.0E-148 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,159,255 +rs79260101 18 112336 C G - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution exon GRCh37 112336 112336 Chr18(GRCh37):g.112336C>G 4 4 NR_107045.1:n.4G>C 1 rs79260101 yes no Frequency 1 0.000000 0 0.001941 0.000000 0.003193 0.002660 0.002717 0.002214 0.001355 0.000000 0.000000 0.003193 22 0 10 1 2 5 4 0 0 11334 1386 3132 376 736 2258 2952 146 348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 10 1 2 5 4 0 0 0 0 0 0 0 0 0 0 0 RF 112 Exomes transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.80451125 . . @ 321 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 399.0 . . . . . . . . . . 0.0299 . . . . . . . . 6.104e-04 . . . . 0.0357 . . . 0 . 0.1 . 0.0333 . . . 0 . 0.1 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_exonic . . . @ . . . 0.42 0.33 182 ENSG00000263006 ROCK1P1 MIR8078 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs149205930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0019 0.0032 0.0027 0.0027 0 0.0014 0 0.0022 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149205930 rs149205930 1 1538 16 1/0 0,209,208 +rs79260101 18 112336 C G - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112336 112336 Chr18(GRCh37):g.112336C>G 389+2883 389+2883 NR_033770.1:n.389+2883C>G p.? p.? 1 1 2883 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 rs79260101 yes no Frequency 1 0.000000 0 0.001941 0.000000 0.003193 0.002660 0.002717 0.002214 0.001355 0.000000 0.000000 0.003193 22 0 10 1 2 5 4 0 0 11334 1386 3132 376 736 2258 2952 146 348 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 10 1 2 5 4 0 0 0 0 0 0 0 0 0 0 0 RF 112 Exomes transversion C G C>G 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.80451125 . . @ 321 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 399.0 . . . . . . . . . . 0.0299 . . . . . . . . 6.104e-04 . . . . 0.0357 . . . 0 . 0.1 . 0.0333 . . . 0 . 0.1 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_exonic . . . @ . . . 0.42 0.33 182 ENSG00000263006 ROCK1P1 MIR8078 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs149205930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0019 0.0032 0.0027 0.0027 0 0.0014 0 0.0022 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149205930 rs149205930 1 1538 16 1/0 0,209,208 +rs766179366 18 112344 C T - MIR8078 50102 MicroRNA 8078 NR_107045.1 -1 84 0 substitution upstream GRCh37 112344 112344 Chr18(GRCh37):g.112344C>T -5 -5 NR_107045.1:n.-5G>A p.? p.? 1 rs766179366 yes no Frequency 1 0.000000 0 0.000191 0.000000 0.000000 0.001524 0.000000 0.000482 0.000000 0.000000 0.000000 0.001524 2 0 0 1 0 1 0 0 0 10478 1194 2464 656 454 2076 3036 258 340 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 125 Exomes transition G A G>A 0.000 -14.080 150 PASS . . . . . . . . . . . . . . . . 0.13625304 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 411.0 . . . . . . . . . . 0.0277 . . . . . . . . 1.092e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs766179366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0.0015 0 0 0 0 0.0005 . . . . . . . . . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs766179366 18 112344 C T - ROCK1P1 37832 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NR_033770.1 1 2457 0 substitution intron GRCh37 112344 112344 Chr18(GRCh37):g.112344C>T 389+2891 389+2891 NR_033770.1:n.389+2891C>T p.? p.? 1 1 2891 5' 82.5885 9.42864 0.894001 6.61578 82.5885 9.42864 0.894001 6.61578 0 Cryptic Acceptor Strongly Activated 112357 0.323965 0.483635 66.1492 1.34414 0.709122 69.2649 rs766179366 yes no Frequency 1 0.000000 0 0.000191 0.000000 0.000000 0.001524 0.000000 0.000482 0.000000 0.000000 0.000000 0.001524 2 0 0 1 0 1 0 0 0 10478 1194 2464 656 454 2076 3036 258 340 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 125 Exomes transition C T C>T 0.000 -14.080 150 PASS . . . . . . . . . . . . . . . . 0.13625304 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 411.0 . . . . . . . . . . 0.0277 . . . . . . . . 1.092e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000263006 ROCK1P1 ROCK1P1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs766179366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0.0015 0 0 0 0 0.0005 . . . . . . . . . . . . . . . . . . . 1.0E-150 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs778560479 18 662402 G A - TYMS 12441 Thymidylate synthetase NM_001071.2 1 1583 942 NP_001062.1 P04818 substitution intron GRCh37 662402 662402 Chr18(GRCh37):g.662402G>A 454+82 454+82 NM_001071.2:c.454+82G>A p.? p.? 3 3 188350 82 5' 90.6189 10.0684 0.993339 3.58166 90.6189 10.0684 0.993339 3.33684 0 Cryptic Donor Weakly Activated 662396 3.93194 0.129579 74.6184 4.29984 0.233867 74.3083 rs778560479 yes no Frequency 1 G 0.000000 0 0.000194 0.000000 0.001193 0.000000 0.000000 0.000000 0.000267 0.000000 0.001018 0.001193 6 0 1 0 0 0 4 0 1 30932 8720 838 302 1618 0 14978 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 1 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.36065573 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . 0.1472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000176890 TYMS TYMS . . . . . . 16 0.000246245 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs778560479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0012 0 0 0 0.0003 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs376142145 18 3100228 A G - MYOM1 7613 Myomesin 1, 185kDa NM_003803.3 -1 5847 5058 NP_003794.3 P52179 substitution intron GRCh37 3100228 3100228 Chr18(GRCh37):g.3100228A>G 3683-27 3683-27 NM_003803.3:c.3683-27T>C p.? p.? 25 24 603508 -27 3' 89.2957 XII.95 0.972274 9.01211 89.2957 XII.95 0.972274 9.09289 0 3100226 -24.7594 rs376142145 yes no Frequency 1 A 0.000000 0 0.000451 0.000375 0.000029 0.000000 0.000000 0.000000 0.000900 0.000000 0.000155 0.000900 125 9 1 0 0 0 114 0 1 277080 24010 34412 10146 18862 30776 126628 25788 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 9 1 0 0 0 114 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8180 3687 11867 4 1 5 0.000488759 0.00027115 0.000421159 0.000488759 0.00027115 0.000421159 94 transition T C T>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.58181816 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . . 0.0003 0.0004 0.0005 0.0003 0.0004 0.0005 . 0.2859 . . . . . . . . 2.963e-04 . . . 0.0002 0.0003 0 0 0 0.0006 0.0014 0 0.0002 0.0003 0 0 0 0.0005 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.23 0.35 182 ENSG00000101605 MYOM1 MYOM1 . . . . . . 49 0.000754125 64976 49 0.000816857 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376142145 . . . . . . . . . . . . . . . . . . . . . . . 0.000421 . . . . . 0.0002 0.0004 2.979e-05 0 0 0 0.0009 0.0002 0 0.0007 0.0006 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs376142145 rs376142145 1 1538 10 1/0 0,255,255 +. 18 5197503 C CAAA - AKAIN1 28285 A kinase (PRKA) anchor inhibitor 1 NM_001145194.1 -1 2302 210 NP_001138666.1 P0CW23 duplication upstream GRCh37 5197503 5197504 Chr18(GRCh37):g.5197504_5197506dup -454 -452 NM_001145194.1:c.-454_-452dup p.? p.? 1 616427 -467 5' 71.2846 7.28962 0.895768 5.35029 71.2846 7.28962 0.895768 5.35029 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes TTT 255 Pass . . . . . . . . . . . . . . . . 0.72727275 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 22 . . UPSTREAM(MODIFIER||||C18orf42|mRNA|CODING|NM_001145194|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . . . . . . . . ENSG00000231824 C18orf42 C18orf42 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,14 +rs202096044 18 8786031 G A - MTCL1 29121 Microtubule crosslinking factor 1 NM_015210.3 1 6092 4761 NP_056025.2 substitution missense exon GRCh37 8786031 8786031 Chr18(GRCh37):g.8786031G>A 1829 1829 NM_015210.3:c.1829G>A p.Arg610His p.Arg610His 7 615766 -59 5' 81.2842 V.29 0.509841 9.23244 81.2842 V.29 0.509841 8.80548 0 rs202096044 yes no Frequency/1000G 2 G 0.000000 0 0.007388 0.000800 0.010200 0.007900 0.006000 0.017300 0.009370 0.001699 0.024061 0.011991 0.010771 0.010757 0.007590 0.000123 0.011551 0.024061 2407 37 802 116 195 322 862 3 70 256896 21780 33332 9674 18104 29934 113568 24444 6060 0.000202 0.000000 0.000540 0.000413 0.000110 0.000468 0.000123 0.000000 0.000000 26 0 9 2 1 7 7 0 0 2355 37 784 112 193 308 848 3 70 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8064 4234 12298 56 4 60 0.00689655 0.000943841 0.00485515 0.00689655 0.000943841 0.00485515 13 COSM1740450|COSM1740450 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000567 2231|3530 transition G A G>A 0.992 1.820 R Arg CGC 0.190 H His CAC 0.587 610 12 10 Frog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 125.46 0.00 Tolerated 0.11 III.72 good 5.703E-1 0.09939 252 PASS . 0.01 0.02 0.01 0.01 0.0008 0.0074 0.017 0.0079 0.006 0.01 . . MTCL1:NM_015210:exon7:c.G1829A:p.R610H . . 0.3181818 . . @ 14 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.374 . @ . . . . . 1 0.501 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R610H|MTCL1|mRNA|CODING|NM_015210|NM_015210.ex.7) 0.0009 0.0049 0.0069 0.0009 0.0049 0.0069 . -0.4137 -0.373 -0.414 c . . . . . 9.301e-03 . . . 0.0016 0.0156 0.0384 0.0160 0 0.0132 0.0322 0.0148 0.0017 0.0130 0.0383 0.0156 0 0.0094 0.0231 0.0148 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.512 . . exonic exonic exonic . . 0.312 0.0074 . . . 0.43 0.5 182 ENSG00000168502 SOGA2 MTCL1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.142 . . . . . . . . . 37 . 0.252 . . 0.086 . . . 0.339 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.209 . . 0.162 . . . . . . 0 0.309 . . . . . 0.478 . 0.314 . HET . rs202096044 . . . . . . . 0.009615384615384616 0.0 0.024861878453038673 0.013986013986013986 0.005277044854881266 XI.91 0.001125 . V.54 II.74 . 0.100000 . . . . 0.004855 . 0.569 . . II.74 0.0014 0.0099 0.0242 0.0115 0.0107 9.537e-05 0.0078 0.0128 0.0108 0.0021 0.0052 0.0180 0.0265 0.0111 0.0003 0.0063 0.0051 . . 0.567 . 0.277 0.277000 . . 0.100000 . . 1.0000000000000001E-252 1.000 0.715 . 0.231 0.615 . 0.601 . 0.225 0.277 -0.021 0.02 . . rs202096044 rs202096044 1 1538 10 1/0 0,255,255 +rs112600899 18 8786117 C A - MTCL1 29121 Microtubule crosslinking factor 1 NM_015210.3 1 6092 4761 NP_056025.2 substitution intron GRCh37 8786117 8786117 Chr18(GRCh37):g.8786117C>A 1887+28 1887+28 NM_015210.3:c.1887+28C>A p.? p.? 7 7 615766 28 5' 81.2842 V.29 0.509841 9.23244 81.2842 V.29 0.509841 8.95911 0 rs112600899 yes no Frequency 1 C 0.000000 0 0.008483 0.003322 0.007955 0.013324 0.003799 0.006684 0.010364 0.009533 0.007943 0.013324 839 17 141 74 29 110 371 76 21 98902 5118 17724 5554 7634 16458 35798 7972 2644 0.013111 0.117647 0.000000 0.000000 0.000000 0.009091 0.018868 0.013158 0.000000 11 2 0 0 0 1 7 1 0 123 36 11 7 2 38 20 5 4 0 0 0 0 0 0 0 0 0 PASS 153 Exomes transversion C A C>A 0.000 -0.198 255 PASS . . . . . . . . . . . . SOGA2:uc010dkw.1:exon2:c.C1429A:p.P477T . . . 0.4375 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||MTCL1|mRNA|CODING|NM_015210|) . . . . . . . 0.3551 . . . . . . . . 6.350e-04 . . . 0.0039 0.0005 0 0 0 0.0003 0 0 0.0029 0.0003 0 0 0 0.0005 0 0 . nonsynonymous_SNV . . . . intronic exonic intronic . . . @ . . . 0.3 0.19 182 ENSG00000168502 SOGA2 MTCL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112600899 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0085 0.0080 0.0133 0.0038 0.0095 0.0104 0.0079 0.0067 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs112600899 rs112600899 1 1538 10 1/0 0,255,255 +rs117942846 18 10472074 G A - APCDD1 15718 Adenomatosis polyposis coli down-regulated 1 NM_153000.4 1 2562 1545 NP_694545.1 Q8J025 substitution intron GRCh37 10472074 10472074 Chr18(GRCh37):g.10472074G>A 774+16 774+16 NM_153000.4:c.774+16G>A p.? p.? 3 3 607479 16 5' 76.2121 VIII.38 0.922741 4.24878 76.2121 VIII.38 0.922741 4.14538 0 rs117942846 yes no Frequency/1000G 2 G 0.000000 0 0.003594 0.000800 0.005100 0.000000 0.008900 0.004300 0.006843 0.001498 0.005439 0.010048 0.000106 0.003999 0.010630 0.002215 0.008440 0.010630 1861 35 187 101 2 123 1302 57 54 271972 23364 34382 10052 18796 30756 122488 25736 6398 0.000051 0.000000 0.000116 0.000000 0.000000 0.000065 0.000049 0.000000 0.000313 7 0 2 0 0 1 3 0 1 1847 35 183 101 2 121 1296 57 52 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8492 4394 12886 100 10 110 0.0116387 0.00227066 0.00846414 0.0116387 0.00227066 0.00846414 48 transition G A G>A 0.000 1.093 255 PASS 0.002 0.0027 . . 0.01 0.0008 0.0036 0.0043 . 0.0089 0.0051 . . . . . 0.5090909 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||APCDD1|mRNA|CODING|NM_153000|) 0.0023 0.0085 0.012 0.0023 0.0085 0.012 . 0.1377 . . . . . . . . 7.049e-03 . . . 0.0019 0.0065 0.0032 0 0.0034 0.0109 0.0073 0.0040 0.0018 0.0072 0.0033 0.0001 0.0033 0.0113 0.0058 0.0040 . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.28 0.32 182 ENSG00000154856 APCDD1 APCDD1 . . . . . . 468 0.00720266 64976 450 0.00750175 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117942846 . . . . . . . . . . . . . . . . . . . . . . . 0.008464 . . . . II.74 0.0014 0.0070 0.0053 0.0099 0.0001 0.0022 0.0108 0.0085 0.0040 0.0016 0.0057 0.0096 0.0132 0 0.0020 0.0091 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs117942846 rs117942846 1 1538 10 1/0 0,255,255 +rs372907975 (chr18:11619523 C/A) 18 11619523 C A Not on a known gene +rs571340907 18 12377152 G A - AFG3L2 315 AFG3-like AAA ATPase 2 NM_006796.2 -1 3209 2394 NP_006787.2 Q9Y4W6 substitution 5'UTR GRCh37 12377152 12377152 Chr18(GRCh37):g.12377152G>A -71 -71 NM_006796.2:c.-71C>T p.? p.? 1 604581 -185 5' 86.4167 XI.33 0.993727 13.5906 86.4167 XI.33 0.993727 13.5906 0 rs571340907 yes no Frequency/1000G 2 G likely_benign 0.000998 A 5 0.000998 0.000000 0.000000 0.000000 0.005000 0.000000 0.005106 0.001483 0.001840 0.001125 0.000366 0.002877 0.008877 0.004320 0.005054 0.008877 451 14 19 6 1 40 327 31 13 88322 9440 10326 5334 2732 13904 36838 7176 2572 0.000068 0.000000 0.000000 0.000000 0.000000 0.000144 0.000109 0.000000 0.000000 3 0 0 0 0 1 2 0 0 445 14 19 6 1 38 323 31 13 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000266676.1 germline clinical testing Likely benign 1 Spinocerebellar Ataxia, Dominant transition C T C>T 0.000 -0.037 255 PASS . . . . . . 0.001 . . 0.005 . . . . . . 0.5714286 . . germline 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Likely//\@benign Likely_benign RCV000266676.1 . MedGen CN239243 2 . . . 21.0 . . UTR_5_PRIME(MODIFIER||||AFG3L2|mRNA|CODING|NM_006796|NM_006796.ex.1) . . . . . . . 1.1387 . . . . . . . . 3.115e-03 . . . 0 0.0039 0.0227 0 . 0.0044 0.02 0.0036 0 0.0039 0.0227 0 . 0.0044 0.02 0.0036 . . . . . . UTR5 UTR5 UTR5 . . . 0.0010 . . . . . . ENSG00000141385 AFG3L2 AFG3L2 ENST00000269143:c.-71C>T uc002kqz.2:c.-71C>T NM_006796:c.-71C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs571340907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0046 0.0016 0.0010 0 0.0045 0.0085 0.0031 0.0029 0.0016 0.0060 0.005 0.0033 0.0006 0.0041 0.0095 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs77074091 18 14183569 A C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183569 14183569 Chr18(GRCh37):g.14183569A>C 502-82 502-82 NR_040113.1:n.502-82A>C p.? p.? 2 1 -82 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 4.17282 0 Cryptic Acceptor Strongly Activated 14183575 0.000119 69.9766 0.118431 0.003031 73.6994 rs77074091 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30688 8610 832 302 1602 0 14900 3476 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 49 Genomes transversion A C A>C 0.000 -0.440 252 PASS . . . . . . . . . . . . . . . . 0.3148148 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.5413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.17 0.3 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77074091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . . . rs77074091 rs77074091 1 1538 10 1/0 0,255,255 +rs79499461 18 14183574 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183574 14183574 Chr18(GRCh37):g.14183574G>A 502-77 502-77 NR_040113.1:n.502-77G>A p.? p.? 2 1 -77 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 3.92435 0 rs79499461 no no 0 0.000000 0 transition G A G>A 0.000 -0.521 198 PASS . . . . . . . . . . . . . . . . 0.29310346 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.2118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.14 0.31 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79499461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . rs79499461 rs79499461 1 1538 10 1/0 0,255,255 +. 18 14183579 T TAC - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 insertion intron GRCh37 14183580 14183581 Chr18(GRCh37):g.14183580_14183581insCA 502-71 502-70 NR_040113.1:n.502-71_502-70insCA p.? p.? 2 1 -70 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 3.96868 0 14183581 -31.2032 rs752017956 no no 0 0.000000 0 CA 255 Pass . . . . . . . . . . . . . . . . 0.22580644 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs752017956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,65 +rs878934618 18 14183581 A G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183581 14183581 Chr18(GRCh37):g.14183581A>G 502-70 502-70 NR_040113.1:n.502-70A>G p.? p.? 2 1 -70 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 4.31265 0 New Acceptor Site 14183582 1.1441 0.568564 14183581 -78.0802 rs878934618 no no 0 0.000000 0 transition A G A>G 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.32692307 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.1392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139863143 18 14183598 A G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183598 14183598 Chr18(GRCh37):g.14183598A>G 502-53 502-53 NR_040113.1:n.502-53A>G p.? p.? 2 1 -53 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 4.12655 0 rs139863143 no no 0 0.000000 0 0.003612 0.005412 0.003145 0.003906 0.003540 0.000000 0.002686 0.002527 0.006614 0.005412 83 34 2 1 4 0 31 6 5 22976 6282 636 256 1130 0 11542 2374 756 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 83 34 2 1 4 0 31 6 5 0 0 0 0 0 0 0 0 0 RF 66 Genomes transition A G A>G 0.000 -1.167 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.2304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.15 0.21 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs139863143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0054 0.0036 0.0031 0.0039 0.0035 0.0025 0.0027 0.0066 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs1297014 rs1297014 rs1297014 rs1297014 1 1538 10 1/0 0,232,255 +rs75090388 18 14183680 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14183680 14183680 Chr18(GRCh37):g.14183680G>A 531 531 NR_040113.1:n.531G>A 2 30 3' 80.6134 5.19239 0.776196 4.12922 80.6134 5.19239 0.776196 4.43385 0 rs75090388 yes no Frequency 1 0.000000 0 0.000318 0.001128 0.000058 0.000000 0.000107 0.000000 0.000184 0.001076 0.001105 0.001128 87 26 2 0 2 0 23 27 7 273590 23048 34306 10126 18688 30756 125240 25092 6334 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 26 2 0 2 0 23 27 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3773368|COSM3773368|COSM3773368 Upper aerodigestive tract|Skin|Pancreas 0.000804|0.000812|0.000569 1244|1232|1758 transition G A G>A 0.740 3.030 224 PASS . . . . . . . . . . . . ANKRD20A5P:uc010xag.2:exon2:c.G233A:p.G78D . . . 0.22413793 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 116.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W177*|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.2) . . . . . . . 0.7162 . . . . . . . . 6.314e-05 . . . 9.653e-05 5.513e-05 0 0 0 9.495e-05 0 0 0.0001 4.71e-05 0 0 0 7.362e-05 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.21 0.36 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75090388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.96 0 0 0 0 0 0 0 0 0 0.0034 0.0031 0.0027 0 0.0014 0.0097 0.0017 0.0081 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs75090388 rs75090388 1 1538 10 1/0 0,231,255 +rs75472228 18 14183876 G T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183876 14183876 Chr18(GRCh37):g.14183876G>T 617-52 617-52 NR_040113.1:n.617-52G>T p.? p.? 3 2 -52 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs75472228 yes no Frequency 1 0.000000 0 transversion G T G>T 0.000 -0.037 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.0670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.15 0.21 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75472228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs75472228 rs75472228 1 1538 10 1/0 0,255,255 +. 18 14183885 A AT - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 duplication intron GRCh37 14183887 14183888 Chr18(GRCh37):g.14183887dup 617-41 617-41 NR_040113.1:n.617-41dup p.? p.? 3 2 -40 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs776985785 no no 0 0.000000 0 0.000136 0.000819 0.000000 0.000000 0.000054 0.000000 0.000137 0.000039 0.000000 0.000819 37 18 0 0 1 0 17 1 0 271496 21990 34290 10050 18644 30722 123880 25588 6332 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 18 0 0 1 0 17 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.39473686 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 38 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs776985785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0025 0.0013 0 0 0.0007 0.0003 0.0012 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,40 +rs796943807 18 14183891 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183891 14183891 Chr18(GRCh37):g.14183891G>A 617-37 617-37 NR_040113.1:n.617-37G>A p.? p.? 3 2 -37 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 New Acceptor Site 14183893 6.73286 0.210466 79.906 rs796943807 no no 0 0.000000 0 0.000177 0.000969 0.000087 0.000000 0.000054 0.000000 0.000162 0.000039 0.000317 0.000969 48 21 3 0 1 0 20 1 2 270766 21676 34288 10044 18584 30718 123642 25500 6314 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 21 3 0 1 0 20 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.47058824 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.3576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0030 0.0018 0.0038 0 0.0007 0.0003 0.0015 0.0023 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs79021167 18 14183894 A C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183894 14183894 Chr18(GRCh37):g.14183894A>C 617-34 617-34 NR_040113.1:n.617-34A>C p.? p.? 3 2 -34 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs79021167 yes no Frequency 1 0.000000 0 0.000155 0.000814 0.000058 0.000000 0.000054 0.000000 0.000145 0.000039 0.000316 0.000814 42 18 2 0 1 0 18 1 2 271726 22118 34308 10056 18666 30722 123994 25534 6328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 18 2 0 1 0 18 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.205 216 PASS . . . . . . . . . . . . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . 0.0694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.14 0.24 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79021167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0024 0.0015 0.0026 0 0.0007 0.0003 0.0013 0.0023 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs79021167 rs79021167 1 1538 10 1/0 0,255,255 +rs78375870 18 14183901 T A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183901 14183901 Chr18(GRCh37):g.14183901T>A 617-27 617-27 NR_040113.1:n.617-27T>A p.? p.? 3 2 -27 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs78375870 yes no Frequency 1 0.000000 0 0.000625 0.004255 0.000118 0.000100 0.000552 0.000000 0.000434 0.000330 0.000990 0.004255 164 83 4 1 10 0 52 8 6 262374 19506 33972 9974 18108 30582 119952 24222 6058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 164 83 4 1 10 0 52 8 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T A T>A 0.000 -4.556 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.8558 . . . . . . . . 1.660e-04 . . . 0.0001 0.0001 0.0002 0 0 0.0001 0 0.0001 0.0001 6.787e-05 0.0002 0 0 3.814e-05 0 0.0001 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.16 0.23 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78375870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.24e-06 0 0.0001 0 0 9.097e-06 0 0 0.0172 0.0082 0.0068 0 0.0111 0.0033 0.0051 0.0096 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78375870 rs78375870 1 1538 10 1/0 0,255,255 +rs75927731 18 14183905 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183905 14183905 Chr18(GRCh37):g.14183905G>A 617-23 617-23 NR_040113.1:n.617-23G>A p.? p.? 3 2 -23 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs75927731 yes no Frequency 1 0.000000 0 0.000296 0.001910 0.000029 0.000000 0.000269 0.000000 0.000227 0.000080 0.000478 0.001910 80 41 1 0 5 0 28 2 3 269916 21470 34266 10068 18560 30720 123524 25036 6272 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 80 41 1 0 5 0 28 2 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -3.830 255 PASS . . . . . . . . . . . . . . . . 0.42424244 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.6996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.16 0.23 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75927731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0061 0.0031 0.0014 0 0.0038 0.0007 0.0021 0.0037 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs75927731 rs75927731 1 1538 10 1/0 0,255,255 +rs75594827 18 14183909 C A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14183909 14183909 Chr18(GRCh37):g.14183909C>A 617-19 617-19 NR_040113.1:n.617-19C>A p.? p.? 3 2 -19 3' 72.3891 2.15552 0.001267 0 72.3891 1.44982 0.000856 0 -0.21726 rs75594827 yes no Frequency 1 0.000000 0 0.000446 0.003047 0.000058 0.000000 0.000325 0.000000 0.000316 0.000201 0.000482 0.003047 120 65 2 0 6 0 39 5 3 269172 21332 34224 10058 18480 30728 123240 24880 6230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 65 2 0 6 0 39 5 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.198 235 PASS . . . . . . . . . . . . . . . . 0.26190478 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.1456 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.12 0.27 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75594827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0099 0.0048 0.0028 0 0.0048 0.0019 0.0030 0.0038 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs75594827 rs75594827 1 1538 10 1/0 0,255,255 +rs376884553 18 14183954 T C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14183954 14183954 Chr18(GRCh37):g.14183954T>C 643 643 NR_040113.1:n.643T>C 3 27 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs376884553 yes no Frequency 1 0.000000 0 0.000004 0.000044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000044 1 1 0 0 0 0 0 0 0 272514 22778 34334 10040 18790 30774 124196 25246 6356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.969 1.174 235 PASS . . . . . . . . . . . . ANKRD20A5P:uc010xag.2:exon3:c.T345C:p.C115C . . . 0.25974026 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C215R|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.3) . . . . . . . 0.4800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376884553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.98 0 0 0 0 0 0 0 0 0 0.0001 3.392e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs376884553 rs376884553 1 1538 10 1/0 0,251,255 +rs62085008 18 14184006 G C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14184006 14184006 Chr18(GRCh37):g.14184006G>C 695 695 NR_040113.1:n.695G>C 3 79 3' 72.3891 2.15552 0.001267 0 72.3891 2.15552 0.001267 0 0 rs62085008 yes no Frequency/1000G 2 0.000000 0 0.001885 0.002506 0.003125 0.000000 0.000733 0.000000 0.001158 0.004525 0.001289 0.004525 48 17 2 0 1 0 15 12 1 25466 6784 640 294 1364 0 12956 2652 776 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 16 2 0 1 0 15 12 1 0 0 0 0 0 0 0 0 0 RF 66 Genomes transversion G C G>C 0.126 0.205 253 PASS . . . . . . . . . . . . ANKRD20A5P:uc010xag.2:exon3:c.G397C:p.G133R . . . 0.3152174 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 92.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cCg|R232P|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.3) . . . . . . . 0.2196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0419 . . . 0.29 0.4 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62085008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0019 0.0031 0 0.0007 0.0045 0.0012 0.0013 . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . rs62085008 rs62085008 rs62085008 rs62085008 1 1538 10 1/0 0,249,255 +rs62085009 18 14184023 T G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14184023 14184023 Chr18(GRCh37):g.14184023T>G 712 712 NR_040113.1:n.712T>G 3 -79 5' 72.3493 7.98261 0.498236 2.66874 72.3493 7.98261 0.498236 II.82 0 New Acceptor Site 14184024 0.170428 0.245213 75.9276 rs62085009 no no 0 0.000000 0 0.000436 0.002206 0.000088 0.000000 0.000271 0.000000 0.000269 0.001007 0.000811 0.002206 117 46 3 0 5 0 33 25 5 268184 20852 34192 10102 18470 30780 122790 24834 6164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 46 3 0 5 0 33 25 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.992 -0.037 232 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tta/Gta|L238V|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.3) . . . . . . . 0.4003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.36 0.35 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62085009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.72e-05 4.086e-06 0 0 0 0 0 0 0 0.0075 0.0049 0.0049 0 0.0041 0.0099 0.0027 0.0071 . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . rs62085009 rs62085009 rs62085009 rs62085009 1 1538 10 1/0 0,245,255 +rs796405573 18 14186369 T C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14186369 14186369 Chr18(GRCh37):g.14186369T>C 791-1635 791-1635 NR_040113.1:n.791-1635T>C p.? p.? 4 3 -1635 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs796405573 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104458 5430 18318 6174 8960 17154 41036 4462 2924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Exomes transition T C T>C 0.000 0.044 229 PASS . . . . . . . . . . . . . . . . 0.2413793 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.2288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs781308073 18 14186370 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14186370 14186370 Chr18(GRCh37):g.14186370G>A 791-1634 791-1634 NR_040113.1:n.791-1634G>A p.? p.? 4 3 -1634 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 Cryptic Donor Strongly Activated 14186367 0.003936 58.4783 2.30155 0.090435 62.8407 rs781308073 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 104562 5418 18344 6196 8962 17178 41092 4448 2924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Exomes transition G A G>A 0.000 -1.812 227 PASS . . . . . . . . . . . . . . . . 0.23728813 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.4657 . . . . . . . . 1.789e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781308073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 18 14186371 TC T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 deletion intron GRCh37 14186375 14186375 Chr18(GRCh37):g.14186375del 791-1629 791-1629 NR_040113.1:n.791-1629del p.? p.? 4 3 -1629 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs113236427 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.23333333 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113236427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113236427 rs113236427 1 1538 10 1.I 0,9,63 +rs199650062 18 14186428 G T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14186428 14186428 Chr18(GRCh37):g.14186428G>T 791-1576 791-1576 NR_040113.1:n.791-1576G>T p.? p.? 4 3 -1576 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 Cryptic Acceptor Strongly Activated 14186444 1.99195 0.066134 81.4689 3.69019 0.299464 81.4689 rs199650062 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000044 0.000204 0.000081 0.000000 0.000087 0.000000 0.000015 0.000000 0.000000 0.000204 7 3 2 0 1 0 1 0 0 159880 14676 24556 8346 11534 22534 64860 8788 4586 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -1.409 227 PASS . . . . . 0.0008 0.0002 . . . . . ANKRD20A5P:uc002ksv.2:exon2:c.G148T:p.G50C . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.4224 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . 0.0002 . . . 0.22 0.15 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199650062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 3.099e-05 8.432e-05 0 0.0001 0 0 0 0 0.0002 9.743e-05 0 0 0 0 6.662e-05 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs78480832 18 14187255 A G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14187255 14187255 Chr18(GRCh37):g.14187255A>G 791-749 791-749 NR_040113.1:n.791-749A>G p.? p.? 4 3 -749 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs78480832 yes no Frequency 1 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000000 0.000086 3 0 0 0 0 0 3 0 0 90402 3602 16734 6316 5962 16386 34774 4072 2556 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 101 Exomes transition A G A>G 0.000 -0.682 182 PASS . . . . . . . . . . . . ANKRD20A5P:uc002ksv.2:exon3:c.A253G:p.T85A . . . 0.54545456 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.3681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.41 0.3 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78480832 . . CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000071754.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000071754.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000071754.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000071754.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . . . . . . . . . . 0 3.319e-05 0 0 0 0 8.627e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs78480832 . 1 1538 10 1/0 0,255,255 +rs111324223 18 14187309 C T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14187309 14187309 Chr18(GRCh37):g.14187309C>T 791-695 791-695 NR_040113.1:n.791-695C>T p.? p.? 4 3 -695 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs111324223 yes no Frequency 1 0.000000 0 0.000057 0.000071 0.000000 0.000000 0.000177 0.000000 0.000047 0.000353 0.000000 0.000353 9 1 0 0 2 0 3 3 0 157788 14134 24488 8334 11324 22528 63990 8490 4500 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 2 0 3 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.205 224 PASS . . . . . . . . . . . . ANKRD20A5P:uc002ksv.2:exon3:c.C307T:p.P103S . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.1593 . . . . . . . . 5.405e-04 . . . 0.0036 0.0003 0.0054 0 0 0.0003 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.48 0.29 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111324223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0001 0.0003 0 0 0.0014 0.0009 0.0002 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs35255759 rs35255759 rs35255759 rs111324223 1 1538 10 1/0 0,255,255 +rs76007622 18 14187312 G T - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution intron GRCh37 14187312 14187312 Chr18(GRCh37):g.14187312G>T 791-692 791-692 NR_040113.1:n.791-692G>T p.? p.? 4 3 -692 3' 85.5744 XI.09 0.965592 6.1006 85.5744 XI.09 0.965592 6.1006 0 rs76007622 yes no Frequency 1 0.000000 0 0.000051 0.000071 0.000000 0.000000 0.000177 0.000000 0.000031 0.000354 0.000000 0.000354 8 1 0 0 2 0 2 3 0 157580 14108 24458 8328 11310 22502 63896 8482 4496 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 0 0 2 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.008 1.093 224 PASS . . . . . . . . . . . . ANKRD20A5P:uc002ksv.2:exon3:c.G310T:p.E104X . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 26.0 . . INTRON(MODIFIER||||ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|) . . . . . . . -0.0947 . . . . . . . . 5.361e-04 . . . 0.0036 0.0003 0.0054 0 0 0.0003 0 0 . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . 0.46 0.32 182 ENSG00000186481 ANKRD20A5P ANKRD20A5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76007622 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0001 0.0003 0 0 0.0014 0.0009 0.0001 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . rs35172558 rs35172558 rs35172558 rs35172558 1 1538 10 1/0 0,255,255 +rs3960244 18 14219972 C A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14219972 14219972 Chr18(GRCh37):g.14219972C>A 1675 1675 NR_040113.1:n.1675C>A 14 62 3' 90.2732 10.064 0.796043 3.42838 90.2732 10.064 0.796043 2.77981 0 rs3960244 yes no Frequency 1 0.000000 0 transversion C A C>A 0.016 -0.279 247 PASS . . . . . . . . . . . . . . . . 0.3125 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R559|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.14) . . . . . . . -0.3158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.44 0.26 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30866\x3bdist\x3d32153 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3960244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . rs3960244 rs3960244 rs3960244 rs3960244 1 1538 10 1/0 0,255,255 +rs74649181 18 14220002 T C - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14220002 14220002 Chr18(GRCh37):g.14220002T>C 1705 1705 NR_040113.1:n.1705T>C 14 -90 5' 87.8485 8.76378 0.996164 4.37691 87.8485 8.76378 0.996164 4.37691 0 rs74649181 no no 0 0.000000 0 transition T C T>C 0.299 0.448 255 PASS . . . . . . . . . . . . . . . . 0.57575756 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 33.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y569H|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.14) . . . . . . . 0.1157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.44 0.3 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30896\x3bdist\x3d32123 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74649181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74649181 rs74649181 1 1538 10 1/0 0,255,255 +rs78704694 18 14220025 A G - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14220025 14220025 Chr18(GRCh37):g.14220025A>G 1728 1728 NR_040113.1:n.1728A>G 14 -67 5' 87.8485 8.76378 0.996164 4.37691 87.8485 8.76378 0.996164 4.42761 0 rs78704694 no no 0 0.000000 0 transition A G A>G 0.433 0.205 255 PASS . . . . . . . . . . . . . . . . 0.53333336 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K576|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.14) . . . . . . . -0.0522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.48 0.34 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30919\x3bdist\x3d32100 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78704694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78704694 rs78704694 1 1538 10 1/0 0,255,255 +rs74546450 18 14220062 C A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution exon GRCh37 14220062 14220062 Chr18(GRCh37):g.14220062C>A 1765 1765 NR_040113.1:n.1765C>A 14 -30 5' 87.8485 8.76378 0.996164 4.37691 87.8485 8.76378 0.996164 4.15493 0 rs74546450 no no 0 0.000000 0 transversion C A C>A 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.6122449 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Aca|P589T|ANKRD20A5P|Non-coding_transcript|NON_CODING|NR_040113|NR_040113.ex.14) . . . . . . . -0.2842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.45 0.29 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30956\x3bdist\x3d32063 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs74546450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74546450 rs74546450 1 1538 10 1/0 0,255,255 +rs76731968 18 14220092 G A - ANKRD20A5P 33833 Ankyrin repeat domain 20 family, member A5, pseudogene NR_040113.1 1 3707 0 substitution splice site GRCh37 14220092 14220092 Chr18(GRCh37):g.14220092G>A 1794+1 1794+1 NR_040113.1:n.1794+1G>A p.? p.? 14 14 1 5' 87.8485 8.76378 0.996164 4.37691 0 0 0 0 -1 rs76731968 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000620 0.000120 0.002732 0.000000 0.000000 0.000000 0.000068 0.004608 0.002257 0.004608 18 1 2 0 0 0 1 12 2 29040 8304 732 298 1572 0 14644 2604 886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 1 2 0 0 0 1 12 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition G A G>A 0.976 2.062 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.65909094 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 44.0 . . . . . . . . . . 0.5027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_splicing intergenic ncRNA_splicing . . . 0.0002 . . . 0.39 0.23 182 ENSG00000186481 . ANKRD20A5P . dist\x3d30986\x3bdist\x3d32033 NR_040113:exon14:c.1794+1G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs76731968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.26 . . . . . . . . . 0.0001 0.0006 0.0027 0 0 0.0046 6.829e-05 0.0023 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76731968 rs76731968 1 1538 10 1/0 0,255,255 +. (chr18:14251574 A/T) 18 14251574 A T Not on a known gene +rs796284434 (chr18:14251590 G/A) 18 14251590 G A Not on a known gene +rs199833064 (chr18:14251608 C/T) 18 14251608 C T Not on a known gene +rs371533294 (chr18:14251619 A/G) 18 14251619 A G Not on a known gene +rs201138107 (chr18:14251660 G/A) 18 14251660 G A Not on a known gene +rs199741467 (chr18:14251678 T/A) 18 14251678 T A Not on a known gene +rs781687095 18 14534980 G A - POTEC 33894 POTE ankyrin domain family, member C NM_001137671.1 -1 2243 1629 NP_001131143.1 B2RU33 substitution synonymous exon GRCh37 14534980 14534980 Chr18(GRCh37):g.14534980G>A 837 837 NM_001137671.1:c.837C>T p.Gly279= p.Gly279Gly 4 27 3' 87.0582 9.57555 0.87821 5.17987 87.0582 9.57555 0.87821 4.697 0 Ankyrin repeat Ankyrin repeat-containing domain rs781687095 yes no Frequency 1 0.000000 0 0.002302 0.001162 0.001014 0.001473 0.001705 0.002072 0.003110 0.002384 0.001759 0.003110 382 21 18 8 21 33 229 45 7 165974 18066 17748 5432 12320 15924 73628 18876 3980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 382 21 18 8 21 33 229 45 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.844 G Gly GGC 0.342 G Gly GGT 0.162 279 213 PASS . . . . . . . . . . . . POTEC:uc010dln.3:exon4:c.C837T:p.G279G POTEC:NM_001137671:exon4:c.C837T:p.G279G . . 0.19642857 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 56.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G279|POTEC|mRNA|CODING|NM_001137671|NM_001137671.ex.4) . . . . . . . -0.4524 . . . . . . . . 3.532e-03 . . . 0.0048 0.0097 0.0057 0.0026 0.0077 0.0135 0.0156 0.0082 0.0054 0.0115 0.0057 0.0029 0.0031 0.0193 0.0078 0.0086 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000183206 POTEC POTEC . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs781687095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0024 0.0009 0.0016 0.0018 0.0014 0.0036 0.0016 0.0021 0.0007 0.0018 0.0038 0 0.0012 0.0069 0.0012 0.0022 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879043932 18 14535058 T C - POTEC 33894 POTE ankyrin domain family, member C NM_001137671.1 -1 2243 1629 NP_001131143.1 B2RU33 substitution intron GRCh37 14535058 14535058 Chr18(GRCh37):g.14535058T>C 811-52 811-52 NM_001137671.1:c.811-52A>G p.? p.? 4 3 -52 3' 87.0582 9.57555 0.87821 5.17987 87.0582 9.57555 0.87821 V.46 0 rs879043932 no no 0 0.000000 0 0.005635 0.006917 0.006289 0.000000 0.018072 0.000000 0.002798 0.012066 0.002525 0.018072 136 46 4 0 18 0 34 32 2 24134 6650 636 258 996 0 12150 2652 792 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136 46 4 0 18 0 34 32 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition A G A>G 0.000 0.448 255 PASS . . . . . . . . . . . . . . . . 0.39285713 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||POTEC|mRNA|CODING|NM_001137671|) . . . . . . . -0.3319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.32 182 ENSG00000183206 POTEC POTEC . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0069 0.0056 0.0063 0 0.0181 0.0121 0.0028 0.0025 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2943441 rs2943441 rs2943441 rs2943441 1 1538 10 1/0 0,255,255 +. 18 14830041 T C - ANKRD30B 24165 Ankyrin repeat domain 30B NM_001145029.1 1 4617 4179 NP_001138501.1 substitution intron GRCh37 14830041 14830041 Chr18(GRCh37):g.14830041T>C 2418-1341 2418-1341 NM_001145029.1:c.2418-1341T>C p.? p.? 28 27 616565 -1341 3' 86.2819 8.60868 0.979113 5.36961 86.2819 8.60868 0.979113 5.36961 0 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000141 0.000000 0.000000 0.000141 2 0 0 0 0 0 2 0 0 29468 8304 810 298 1562 0 14170 3380 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.000 -0.763 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.5810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.25 182 ENSG00000180777 ANKRD30B ANKRD30B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.787e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs2775564 rs2775564 rs2775564 rs2775564 1 1538 10 1/0 0,249,255 +. 18 14830041 T C - MIR3156-2 38213 MicroRNA 3156-2 NR_036153.1 1 77 0 substitution upstream GRCh37 14830041 14830041 Chr18(GRCh37):g.14830041T>C -124 -124 NR_036153.1:n.-124T>C p.? p.? 1 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000141 0.000000 0.000000 0.000141 2 0 0 0 0 0 2 0 0 29468 8304 810 298 1562 0 14170 3380 944 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition T C T>C 0.000 -0.763 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.5810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.43 0.25 182 ENSG00000180777 ANKRD30B ANKRD30B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.787e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs2775564 rs2775564 rs2775564 rs2775564 1 1538 10 1/0 0,249,255 +rs2792490 18 14830042 G A - ANKRD30B 24165 Ankyrin repeat domain 30B NM_001145029.1 1 4617 4179 NP_001138501.1 substitution intron GRCh37 14830042 14830042 Chr18(GRCh37):g.14830042G>A 2418-1340 2418-1340 NM_001145029.1:c.2418-1340G>A p.? p.? 28 27 616565 -1340 3' 86.2819 8.60868 0.979113 5.36961 86.2819 8.60868 0.979113 5.36961 0 rs2792490 no no 0 G 0.000000 0 0.000034 0.000121 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000121 1 1 0 0 0 0 0 0 0 29288 8250 806 292 1554 0 14078 3370 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition G A G>A 0.000 -0.440 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.4170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000180777 ANKRD30B ANKRD30B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2792490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.414e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs2792490 rs2792490 rs2792490 rs2792490 1 1538 10 1/0 0,249,255 +rs2792490 18 14830042 G A - MIR3156-2 38213 MicroRNA 3156-2 NR_036153.1 1 77 0 substitution upstream GRCh37 14830042 14830042 Chr18(GRCh37):g.14830042G>A -123 -123 NR_036153.1:n.-123G>A p.? p.? 1 rs2792490 no no 0 G 0.000000 0 0.000034 0.000121 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000121 1 1 0 0 0 0 0 0 0 29288 8250 806 292 1554 0 14078 3370 938 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition G A G>A 0.000 -0.440 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.4170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000180777 ANKRD30B ANKRD30B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs2792490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.414e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs2792490 rs2792490 rs2792490 rs2792490 1 1538 10 1/0 0,249,255 +rs75468016 (chr18:14866442 G/A) 18 14866442 G A Not on a known gene +rs79572304 (chr18:14866449 G/A) 18 14866449 G A Not on a known gene +rs77587164 (chr18:14866465 T/G) 18 14866465 T G Not on a known gene +rs77420911 (chr18:14866503 A/G) 18 14866503 A G Not on a known gene +. 18 19102774 C T - GREB1L 31042 Growth regulation by estrogen in breast cancer 1 like NM_001142966.2 1 9334 5772 NP_001136438.1 Q9C091 substitution missense exon GRCh37 19102774 19102774 Chr18(GRCh37):g.19102774C>T 5764 5764 NM_001142966.2:c.5764C>T p.His1922Tyr p.His1922Tyr 33 617782 156 3' 87.6287 9.49909 0.948267 XI.98 87.6287 9.49909 0.948267 XI.98 0 transition C T C>T 1.000 5.694 H His CAT 0.413 Y Tyr TAT 0.438 1922 12 11 Zebrafish 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 227.83 79.14 Deleterious 0 IV.17 255 PASS . . . . . . . . . . . . GREB1L:uc010xam.2:exon33:c.C5764T:p.H1922Y GREB1L:NM_001142966:exon33:c.C5764T:p.H1922Y . . 0.44 . . @ 11 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.757 . @ . . . . . 1 0.888 . . 25.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H1922Y|GREB1L|mRNA|CODING|NM_001142966|NM_001142966.ex.33) . . . . . . . 0.7481 0.788 0.748 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.945 @ . . . . . . ENSG00000141449 GREB1L GREB1L . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.561 0.035 . . 37 . 0.393 . . 0.117 . . . 0.636 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.772 . . 0 0 0 0 0 0 . 0.715 . . 0.807 . . . . . . 0 0.912 . . . . . 0.984 . 0.909 . HET . . . . . . . . . . . . . . 20.2381 . . V.88 V.88 . 0.000000 Q9C091 . . . . . 0.818 . . V.88 . . . . . . . . . . . . . . . . . . . 0.465 . 2.779 2.779000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.993 . 0.799 . 0.362 2.779 0.871 . . . . . 1 1538 10 1/0 0,255,255 +. 18 20526308 TTTA T - RBBP8 9891 Retinoblastoma binding protein 8 NM_002894.2 1 3271 2694 NP_002885.1 Q99708 deletion intron GRCh37 20526314 20526316 Chr18(GRCh37):g.20526314_20526316del 110-93 110-91 NM_002894.2:c.110-93_110-91del p.? p.? 3 2 604124 -91 3' 99.4727 13.0739 0.998122 7.95822 99.4727 13.0739 0.998122 7.95822 0 20526314 -65.5829 rs573791810 no no 0 0.000000 0 0.004037 0.000000 0.000000 0.000000 0.000000 0.000000 0.005734 0.006869 0.015306 0.006869 125 0 0 0 0 0 86 24 15 30964 8734 838 302 1618 0 14998 3494 980 0.008000 0.000000 0.000000 0.000000 0.000000 0.000000 0.011628 0.000000 0.000000 1 0 0 0 0 0 1 0 0 123 0 0 0 0 0 84 24 15 0 0 0 0 0 0 0 0 0 PASS 41 Genomes ATT 255 Pass . . . . . . . . . . . . . . . . 0.37096775 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000101773 RBBP8 RBBP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs573791810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0040 0 0 0 0.0069 0.0057 0.0153 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,43 +rs34780140 18 20573434 T C - RBBP8 9891 Retinoblastoma binding protein 8 NM_002894.2 1 3271 2694 NP_002885.1 Q99708 substitution synonymous exon GRCh37 20573434 20573434 Chr18(GRCh37):g.20573434T>C 1644 1644 NM_002894.2:c.1644T>C p.Asp548= p.Asp548Asp 11 604124 -169 5' 79.6441 7.80624 0.877762 0 79.6441 7.80624 0.877762 0 0 rs34780140 yes no Frequency/1000G 2 T uncertain_significance,likely_benign 0.000000 0 0.004992 0.000000 0.000000 0.000000 0.018900 0.008600 0.007580 0.001749 0.008485 0.009365 0.000000 0.001722 0.011114 0.006048 0.008506 0.011114 2100 42 292 95 0 53 1407 156 55 277062 24008 34412 10144 18858 30782 126600 25792 6466 0.000072 0.000083 0.000058 0.000197 0.000000 0.000000 0.000111 0.000000 0.000000 10 1 1 1 0 0 7 0 0 2080 40 290 93 0 53 1393 156 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8496 4399 12895 102 7 109 0.0118632 0.00158874 0.00838204 0.0118632 0.00158874 0.00838204 43 RCV000357103.1|RCV000118132.2|RCV000316071.1 germline|germline|germline clinical testing|clinical testing|clinical testing VUS|Benign|VUS 1|1|1 Microcephaly with mental retardation and digital anomalies|not specified|Seckel syndrome transition T C T>C 0.843 -0.360 D Asp GAT 0.461 D Asp GAC 0.539 548 255 PASS . 0.01 0.01 . 0.02 . 0.005 0.0086 . 0.019 . . . . . . 0.55172414 . . germline 16 . . 1.2.2016 0 0 0 0 1 0 1 1 1 1 0 0 . . . . . . . . Likely//\@benign//\%//\@Uncertain//\@significance//\%//\@Uncertain//\@significance Likely_benign|Uncertain_significance|Uncertain_significance RCV000118132.1|RCV000316071.1|RCV000357103.1 not_specified|Seckel_syndrome|Microcephaly_with_mental_retardation_and_digital_anomalies MedGen|MedGen:Orphanet:SNOMED_CT|Gene:MedGen:OMIM CN169374|C0265202:ORPHA808:57917004|100192306:C2673414:251255 2 . . . 29.0 . . . 0.0016 0.0084 0.012 0.0016 0.0084 0.012 . 0.6858 . . . . . . . . 7.546e-03 . . . 0.0015 0.0076 0.0077 0 0.0058 0.0126 0.0112 0.0013 0.0015 0.0072 0.0077 0 0.0062 0.0110 0.0101 0.0013 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0050 . . . 0.46 0.27 182 ENSG00000101773 RBBP8 RBBP8 . . . . . . 664 0.0102192 64976 639 0.0106525 59986 Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34780140 0.011 0.007 . CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000118132.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000118132.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dprobable-non-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000118132.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . . . . . . . . . . . . . . . . . 0.008382 . . . . . 0.0019 0.0078 0.0085 0.0094 0 0.0062 0.0114 0.0089 0.0017 0.0015 0.0060 0.0095 0.0066 0 0.0052 0.0092 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 rs34780140 rs34780140 rs34780140 rs34780140 1 1538 10 1/0 0,255,255 +. 18 21124907 A AC - NPC1 7897 Niemann-Pick disease, type C1 NM_000271.4 -1 4814 3837 NP_000262.2 O15118 duplication intron GRCh37 21124907 21124908 Chr18(GRCh37):g.21124908dup 1947+16 1947+16 NM_000271.4:c.1947+16dup p.? p.? 12 12 607623 16 5' 85.7103 8.69415 0.995595 5.65019 85.7103 8.69415 0.995595 5.54937 0 rs55809701 yes no Frequency/1000G 2 benign 0.000000 0 0.160343 0.186100 0.201400 0.083300 0.178900 0.138300 RCV000174229.1 germline|germline clinical testing|clinical testing Benign 2 not specified G 255 Pass . . . . . 0.19 0.16 0.14 0.083 0.18 0.2 . . . . . 0.6875 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . Benign RCV000174229.1 not_specified MedGen CN169374 2 . . . 32 . . INTRON(MODIFIER||||NPC1|mRNA|CODING|NM_000271|) 0.25 0.2 0.17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000141458 NPC1 NPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3837910 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.198965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.25 . rs55809701 rs55809701 rs55809701 1 1538 10 1.I 0,11,16 +rs276936 18 28611139 A C - DSC3 3037 Desmocollin 3 NM_001941.4 -1 7656 2691 NP_001932.2 Q14574 substitution splice site GRCh37 28611139 28611139 Chr18(GRCh37):g.28611139A>C 155-1 155-1 NM_001941.4:c.155-1T>G p.? p.? 3 2 600271 -1 3' 0 0 0 0 91.8472 5.53691 0.852814 4.37835 1 New Acceptor Site 28611138 5.53691 0.852814 91.8472 rs276936 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999956 0.999958 1.000000 1.000000 1.000000 1.000000 0.999911 1.000000 1.000000 1.000000 270188 23809 33496 9842 18392 28890 123791 25634 6334 270200 23810 33496 9842 18392 28890 123802 25634 6334 0.999911 0.999916 1.000000 1.000000 1.000000 1.000000 0.999822 1.000000 1.000000 135088 11904 16748 4921 9196 14445 61890 12817 3167 12 1 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 1 0 1 8593 4406 12999 0.00011636 0 7.69231e-05 0.999884 1 0.999923 24 RCV000454815.1 germline clinical testing Benign 1 not specified transversion T G T>G 0.992 1.577 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 44.0 . . . 1. 1. 1. 1. 1. 1. . 0.3541 . . . . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1.0000 1 1 . . . . . . splicing splicing splicing . . . 0.0000 . . . 0.29 0.29 182 ENSG00000134762 DSC3 DSC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs276936 1.000 1.000 . . . . . 1.0 1.0 1.0 1.0 1.0 13.4971 1.0 . V.21 IV.33 . . . . . Name\x3dnsv833613 0.999923 . . . . IV.33 0.9999 1.0000 1 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 0.9999 1 . . . . 0.777 0.777000 . . . . . 1.0E-111 . . . . . . . . . 0.777 . 1. rs276936 rs276936 rs276936 rs276936 1 1538 255 1.I 0,0,255 +rs142563540 18 28956809 G A - DSG1-AS1 51115 DSG1 antisense RNA 1 NR_110788.1 -1 730 0 substitution intron GRCh37 28956809 28956809 Chr18(GRCh37):g.28956809G>A 157-22393 157-22393 NR_110788.1:n.157-22393C>T p.? p.? 2 1 -22393 3' 81.2416 8.18569 0.842492 4.26168 81.2416 8.18569 0.842492 4.26168 0 Cryptic Acceptor Weakly Activated 28956792 6.51873 0.658055 87.2462 VI.34 0.770104 87.2462 rs142563540 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.009900 0.000000 0.003713 0.000343 0.000000 0.000000 0.000000 0.000000 0.005798 0.006297 0.003055 0.006297 115 3 0 0 0 0 87 22 3 30974 8736 838 302 1618 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 3 0 0 0 0 87 22 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes 3164 1383 4547 18 1 19 0.00565682 0.000722543 0.00416119 0.00565682 0.000722543 0.00416119 70 RCV000269698.1 germline clinical testing VUS 1 Localized AR Hypotrichosis transition C T C>T 0.000 -0.279 255 PASS . 0.0041 . . 0.01 . 0.002 . . 0.0099 . . . . . . 0.3382353 . . germline 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000269698.1 Localized_AR_Hypotrichosis MedGen CN239201 2 . . . 68.0 . . . 0.0007 0.0042 0.0057 0.0007 0.0042 0.0057 . 0.2377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR5 ncRNA_intronic . . . 0.0020 . . . 0.57 0.57 182 ENSG00000266729 DSG4 DSG1-AS1 . . . . . . 203 0.00312423 64976 193 0.00321742 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142563540 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004161 . . . . . . . . . . . . . . 0.0003 0.0037 0 0 0 0.0063 0.0058 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs142563540 rs142563540 1 1538 10 1/0 0,255,255 +rs142563540 18 28956809 G A - DSG4 21307 Desmoglein 4 NM_001134453.2 1 4629 3180 NP_001127925.1 substitution 5'UTR GRCh37 28956809 28956809 Chr18(GRCh37):g.28956809G>A -66 -66 NM_001134453.2:c.-66G>A p.? p.? 1 607892 -114 5' 91.1822 11.0134 0.995931 5.01561 91.1822 11.0134 0.995931 5.01561 0 rs142563540 yes no Frequency/1000G 2 G uncertain_significance 0.000000 0 0.001997 0.000000 0.000000 0.000000 0.009900 0.000000 0.003713 0.000343 0.000000 0.000000 0.000000 0.000000 0.005798 0.006297 0.003055 0.006297 115 3 0 0 0 0 87 22 3 30974 8736 838 302 1618 0 15004 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 115 3 0 0 0 0 87 22 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes 3164 1383 4547 18 1 19 0.00565682 0.000722543 0.00416119 0.00565682 0.000722543 0.00416119 70 RCV000269698.1 germline clinical testing VUS 1 Localized AR Hypotrichosis transition G A G>A 0.000 -0.279 255 PASS . 0.0041 . . 0.01 . 0.002 . . 0.0099 . . . . . . 0.3382353 . . germline 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000269698.1 Localized_AR_Hypotrichosis MedGen CN239201 2 . . . 68.0 . . . 0.0007 0.0042 0.0057 0.0007 0.0042 0.0057 . 0.2377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR5 ncRNA_intronic . . . 0.0020 . . . 0.57 0.57 182 ENSG00000266729 DSG4 DSG1-AS1 . . . . . . 203 0.00312423 64976 193 0.00321742 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142563540 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004161 . . . . . . . . . . . . . . 0.0003 0.0037 0 0 0 0.0063 0.0058 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs142563540 rs142563540 1 1538 10 1/0 0,255,255 +rs3859364 18 29339910 G T - SLC25A52 23324 Solute carrier family 25, member 52 NM_001034172.2 -1 1185 924 NP_001029344.3 substitution missense exon GRCh37 29339910 29339910 Chr18(GRCh37):g.29339910G>T 745 745 NM_001034172.2:c.745C>A p.Leu249Ile p.Leu249Ile 1 616153 Mitochondrial substrate/solute carrier rs3859364 yes no Frequency/1000G 2 T 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999964 0.999958 1.000000 1.000000 1.000000 1.000000 0.999929 1.000000 1.000000 1.000000 276514 23923 34404 10134 18860 30768 126177 25792 6456 276524 23924 34404 10134 18860 30768 126186 25792 6456 0.999928 0.999916 1.000000 1.000000 1.000000 1.000000 0.999857 1.000000 1.000000 138252 11961 17202 5067 9430 15384 63084 12896 3228 10 1 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 1 0 1 8587 4406 12993 0.000116442 0 7.69586e-05 0.999884 1 0.999923 28 COSM4130950 Thyroid 0.001339 747 transversion C A C>A 0.992 0.690 L Leu CTA 0.070 I Ile ATA 0.163 249 15 1 2 2 2 0 0 4.IX 5.II 111 111 5 C0 14.30 0.00 Tolerated 0.47 III.33 good 4.675E-2 0.0001585 111 PASS 0.99 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . SLC25A52:uc002kxa.3:exon1:c.C745A:p.L249I SLC25A52:NM_001034172:exon1:c.C745A:p.L249I . . 1.0 . . @ 83 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.196 . @ . . . . . 1 0.131 . . 83.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cta/Ata|L249I|SLC25A52|mRNA|CODING|NM_001034172|NM_001034172.ex.1) 1. 1. 1. 1. 1. 1. . -1.1679 -1.130 -1.168 c . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1.0000 1 1 0.9999 1.0000 1 1 1 1 1 1 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.837 . . exonic exonic exonic . . 0.202 0.0000 . . . 0.22 0.16 182 ENSG00000141437 SLC25A52 SLC25A52 . . . 0.283 0.190 . . . . . . . Benign . 0 . 0.250 . . . . . . . . . 37 . 0.000 . . 0.441 . . . 0.194 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.210 . . 0 0 0 0 0 0 . 0.026 . . 0.104 . . . . . . 0 0.127 . . . . . 0.158 . 0.065 . HOM 0.45 rs3859364 1.000 1.000 . . . . . 0.9972527472527473 0.991869918699187 1.0 0.9965034965034965 1.0 V.53 1.0 . I.22 I.22 . 1.000000 Q3SY17 . . . 0.999923 . 0.091 . . . 0.9999 1.0000 1 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 0.9999 1 . . 0.133 . -0.011 -0.011000 . . 1.000000 . . 1.0E-111 1.000 0.715 . 0.403 0.976 . 0.452 . 0.088 -0.011 -1.542 1. rs3859364 rs3859364 rs3859364 rs3859364 1 1538 255 1.I 0,0,255 +rs142615973 18 33077807 G C - INO80C 26994 INO80 complex subunit C NM_001098817.1 -1 1088 687 NP_001092287.1 substitution missense exon GRCh37 33077807 33077807 Chr18(GRCh37):g.33077807G>C 32 32 NM_001098817.1:c.32C>G p.Thr11Ser p.Thr11Ser 1 -125 5' 83.4361 10.1166 0.971086 8.49542 83.4361 10.1166 0.971086 8.49542 0 New Acceptor Site 33077806 3.45048 0.062269 71.4466 rs142615973 yes no Frequency/1000G 2 G 0.000000 0 0.002596 0.000000 0.002000 0.000000 0.008000 0.004300 0.004577 0.000881 0.003741 0.001345 0.000060 0.011454 0.005463 0.000629 0.005397 0.011454 1207 20 121 13 1 342 661 16 33 263686 22710 32340 9662 16556 29858 120994 25452 6114 0.000068 0.000000 0.000000 0.000000 0.000000 0.000469 0.000033 0.000000 0.000000 9 0 0 0 0 7 2 0 0 1189 20 121 13 1 328 657 16 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4397 12946 51 9 60 0.00593023 0.00204267 0.00461326 0.00593023 0.00204267 0.00461326 33 COSM215741 Central nervous system 0.000416 2405 transversion C G C>G 0.024 1.416 T Thr ACT 0.243 S Ser AGT 0.149 11 12 7 Dog 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 353.86 0.00 Tolerated 0.43 III.80 good 8.443E-1 0.0001084 255 PASS . 0.0032 0.01 . 0.01 . 0.0026 0.0043 . 0.008 0.002 . . . . . 0.48192772 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.216 . @ . . . . . 1 0.210 . . 83.0 . . . 0.002 0.0046 0.0059 0.002 0.0046 0.0059 . -0.7314 -0.561 -0.731 c . . . . . 4.752e-03 . . . 0.0011 0.0059 0.0044 0 0.0003 0.0065 0.0029 0.0124 0.0009 0.0047 0.0045 0 0.0005 0.0045 0.0030 0.0124 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.417 0.0026 . . . 0.31 0.35 182 . INO80C INO80C . . . 1.000 0.747 . 305 0.00469404 64976 292 0.0048678 59986 Uncertain_significance . 0 . 0.204 . . . . . . . . . 37 . 0.096 . . 0.224 . . . 0.297 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.131 . . 0.145 . . . . . . 0 0.180 . . . . . 0.438 . 0.086 . HET 0 rs142615973 . . . . . . ID\x3dCOSM215741\x3bOCCURENCE\x3d1(central_nervous_system) 0.003205128205128205 0.0 0.008287292817679558 0.0 0.005277044854881266 X.91 0.002675 . IV.61 III.72 . 0.740000 . . . . 0.004613 . 0.089 . . III.72 0.0011 0.0047 0.0037 0.0014 6.695e-05 0.0007 0.0054 0.0058 0.0115 0.0006 0.0035 0.0048 0 0 0.0003 0.0063 0.0031 . . 0.072 . 1.288 1.288000 . . 0.740000 . . 1.0E-255 0.966 0.337 . 0.625 0.872 . 0.443 . 0.713 1.288 0.917 0.01 . . rs142615973 rs142615973 1 1538 10 1/0 0,255,255 +rs751315944 18 44543085 T C - ELOA3D 33511 Elongin A3 family member D NM_001242907.1 -1 1877 1641 NP_001229836.1 A6NLF2 substitution synonymous exon GRCh37 44543085 44543085 Chr18(GRCh37):g.44543085T>C 1287 1287 NM_001242907.1:c.1287A>G p.Val429= p.Val429Val 1 RNA polymerase II transcription factor SIII, subunit A rs751315944 yes no Frequency 1 T 0.000000 0 0.001941 0.030346 0.000651 0.000000 0.000000 0.000071 0.000050 0.000000 0.002274 0.030346 190 172 9 0 0 1 2 0 6 97892 5668 13816 4504 9494 14006 40120 7646 2638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 190 172 9 0 0 1 2 0 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 0.690 V Val GTA 0.114 V Val GTG 0.468 429 255 PASS . . . . . . . . . . . ENSG00000266996:ENST00000591973:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujk.1:exon1:c.A1287G:p.V429V . . . 0.72077924 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.1435 . . . . . . . . 9.470e-04 . . . 0.1294 0.0062 0.0035 0 0 0 0.0161 0 0.1325 0.0051 0.0038 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.38 182 ENSG00000266996 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs751315944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0283 0.0013 0.0007 0 0 0 3.113e-05 0.0024 7.14e-05 0.0329 0.0057 0 0 0 0 0.0001 0.0019 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs79588034 1 1538 10 1/0 0,248,246 +rs751315944 18 44543085 T C - KATNAL2 25387 Katanin catalytic subunit A1 like 2 NM_001353899.1 1 3426 1695 NP_001340828.1 substitution intron GRCh37 44543085 44543085 Chr18(GRCh37):g.44543085T>C 129+16199 129+16199 NM_001353899.1:c.129+16199T>C p.? p.? 3 3 614697 16199 5' 83.0123 9.63235 0.972253 3.42865 83.0123 9.63235 0.972253 3.42865 0 rs751315944 yes no Frequency 1 T 0.000000 0 0.001941 0.030346 0.000651 0.000000 0.000000 0.000071 0.000050 0.000000 0.002274 0.030346 190 172 9 0 0 1 2 0 6 97892 5668 13816 4504 9494 14006 40120 7646 2638 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 190 172 9 0 0 1 2 0 6 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.690 255 PASS . . . . . . . . . . . ENSG00000266996:ENST00000591973:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujk.1:exon1:c.A1287G:p.V429V . . . 0.72077924 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.1435 . . . . . . . . 9.470e-04 . . . 0.1294 0.0062 0.0035 0 0 0 0.0161 0 0.1325 0.0051 0.0038 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.38 182 ENSG00000266996 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs751315944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0283 0.0013 0.0007 0 0 0 3.113e-05 0.0024 7.14e-05 0.0329 0.0057 0 0 0 0 0.0001 0.0019 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs79588034 1 1538 10 1/0 0,248,246 +rs201366170 18 44549012 T C - ELOA3B 31007 Elongin A3 family member B NM_001100817.2 -1 1641 1641 NP_001094287.2 Q3SY89 substitution downstream GRCh37 44549012 44549012 Chr18(GRCh37):g.44549012T>C *5561 *5561 NM_001100817.2:c.*5561A>G p.? p.? 1 RNA polymerase II transcription factor SIII, subunit A rs201366170 yes no Frequency 1 T 0.000000 0 0.003271 0.011063 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001695 0.011063 62 61 0 0 0 0 0 0 1 18956 5514 646 124 1242 0 8856 1984 590 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 61 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition A G A>G 0.008 0.448 255 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujl.1:exon1:c.A1287G:p.V429V . . . 0.647541 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.0197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.36 182 ENSG00000234298 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201366170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0033 0 0 0 0 0 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs201366170 1 1538 10 1/0 0,255,255 +rs201366170 18 44549012 T C - ELOA3C 52410 Elongin A3 family member C NM_001354366.1 -1 1641 1641 NP_001341295.1 Q8NG57 substitution synonymous exon GRCh37 44549012 44549012 Chr18(GRCh37):g.44549012T>C 1287 1287 NM_001354366.1:c.1287A>G p.Val429= p.Val429Val 1 rs201366170 yes no Frequency 1 T 0.000000 0 0.003271 0.011063 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001695 0.011063 62 61 0 0 0 0 0 0 1 18956 5514 646 124 1242 0 8856 1984 590 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 61 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition A G A>G 0.008 0.448 V Val GTA 0.114 V Val GTG 0.468 429 255 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujl.1:exon1:c.A1287G:p.V429V . . . 0.647541 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.0197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.36 182 ENSG00000234298 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201366170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0033 0 0 0 0 0 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs201366170 1 1538 10 1/0 0,255,255 +rs201366170 18 44549012 T C - KATNAL2 25387 Katanin catalytic subunit A1 like 2 NM_001353899.1 1 3426 1695 NP_001340828.1 substitution intron GRCh37 44549012 44549012 Chr18(GRCh37):g.44549012T>C 129+22126 129+22126 NM_001353899.1:c.129+22126T>C p.? p.? 3 3 614697 22126 5' 83.0123 9.63235 0.972253 3.42865 83.0123 9.63235 0.972253 3.42865 0 rs201366170 yes no Frequency 1 T 0.000000 0 0.003271 0.011063 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001695 0.011063 62 61 0 0 0 0 0 0 1 18956 5514 646 124 1242 0 8856 1984 590 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 61 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 0.008 0.448 255 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.A1287G:p.V429V TCEB3CL2:uc021ujl.1:exon1:c.A1287G:p.V429V . . . 0.647541 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.0197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.36 182 ENSG00000234298 TCEB3CL2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201366170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0033 0 0 0 0 0 0.0017 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79588034 rs201366170 1 1538 10 1/0 0,255,255 +. 18 44549175 G A - ELOA3B 31007 Elongin A3 family member B NM_001100817.2 -1 1641 1641 NP_001094287.2 Q3SY89 substitution downstream GRCh37 44549175 44549175 Chr18(GRCh37):g.44549175G>A *5398 *5398 NM_001100817.2:c.*5398C>T p.? p.? 1 RNA polymerase II transcription factor SIII, subunit A transition C T C>T 0.488 0.932 111 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.C1124T:p.P375L TCEB3CL2:uc021ujl.1:exon1:c.C1124T:p.P375L . . . 1.0 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.185 . . 27.0 . . . . . . . . . . -1.5789 -1.438 -1.579 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.219 @ . . . 0.36 0.39 182 ENSG00000234298 TCEB3CL2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . T 0.137 0.005 . . 37 . 0.011 . . 0.429 . . . 0.000 0.351 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 . . . . . . 0.133 . 0.374 . HOM 1 . 0.174 0.174 . . . . . . . . . . IV.49 . ENST00000451265 1.V 1.V . 1.000000 Q3SY89 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.086 0.086000 . . 1.000000 . . 1.0E-111 0.882 0.308 . 0.043 0.003 . 0.225 . 0.114 0.086 -1.805 0.17 . rs71238563 rs2261291 rs2261291 1 1538 255 1.I 0,0,255 +. 18 44549175 G A - ELOA3C 52410 Elongin A3 family member C NM_001354366.1 -1 1641 1641 NP_001341295.1 Q8NG57 substitution missense exon GRCh37 44549175 44549175 Chr18(GRCh37):g.44549175G>A 1124 1124 NM_001354366.1:c.1124C>T p.Pro375Leu p.Pro375Leu 1 transition C T C>T 0.488 0.932 P Pro CCG 0.115 L Leu CTG 0.404 375 12 1 -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 240.02 0.00 Tolerated 1 II.69 111 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.C1124T:p.P375L TCEB3CL2:uc021ujl.1:exon1:c.C1124T:p.P375L . . . 1.0 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.185 . . 27.0 . . . . . . . . . . -1.5789 -1.438 -1.579 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.219 @ . . . 0.36 0.39 182 ENSG00000234298 TCEB3CL2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . T 0.137 0.005 . . 37 . 0.011 . . 0.429 . . . 0.000 0.351 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 . . . . . . 0.133 . 0.374 . HOM 1 . 0.174 0.174 . . . . . . . . . . IV.49 . ENST00000451265 1.V 1.V . 1.000000 Q3SY89 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.086 0.086000 . . 1.000000 . . 1.0E-111 0.882 0.308 . 0.043 0.003 . 0.225 . 0.114 0.086 -1.805 0.17 . rs71238563 rs2261291 rs2261291 1 1538 255 1.I 0,0,255 +. 18 44549175 G A - KATNAL2 25387 Katanin catalytic subunit A1 like 2 NM_001353899.1 1 3426 1695 NP_001340828.1 substitution intron GRCh37 44549175 44549175 Chr18(GRCh37):g.44549175G>A 129+22289 129+22289 NM_001353899.1:c.129+22289G>A p.? p.? 3 3 614697 22289 5' 83.0123 9.63235 0.972253 3.42865 83.0123 9.63235 0.972253 3.42865 0 New Acceptor Site 44549177 7.02146 0.289012 76.8215 transition G A G>A 0.488 0.932 111 PASS . . . . . . . . . . . ENSG00000234298:ENST00000451265:exon1:c.C1124T:p.P375L TCEB3CL2:uc021ujl.1:exon1:c.C1124T:p.P375L . . . 1.0 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.185 . . 27.0 . . . . . . . . . . -1.5789 -1.438 -1.579 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.219 @ . . . 0.36 0.39 182 ENSG00000234298 TCEB3CL2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.399 . . . . T 0.137 0.005 . . 37 . 0.011 . . 0.429 . . . 0.000 0.351 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 . . . . . . 0.133 . 0.374 . HOM 1 . 0.174 0.174 . . . . . . . . . . IV.49 . ENST00000451265 1.V 1.V . 1.000000 Q3SY89 . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.283 . 0.086 0.086000 . . 1.000000 . . 1.0E-111 0.882 0.308 . 0.043 0.003 . 0.225 . 0.114 0.086 -1.805 0.17 . rs71238563 rs2261291 rs2261291 1 1538 255 1.I 0,0,255 +rs368541577 18 44555018 T G - ELOA3B 31007 Elongin A3 family member B NM_001100817.2 -1 1641 1641 NP_001094287.2 Q3SY89 substitution missense exon GRCh37 44555018 44555018 Chr18(GRCh37):g.44555018T>G 1196 1196 NM_001100817.2:c.1196A>C p.Gln399Pro p.Gln399Pro 1 rs368541577 yes no Frequency 1 T 0.000000 0 0.003492 0.000735 0.001434 0.003406 0.000000 0.000518 0.004022 0.010696 0.004265 0.010696 754 14 32 28 0 12 421 225 22 215912 19042 22314 8220 12324 23146 104672 21036 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 754 14 32 28 0 12 421 225 22 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 6997 3538 10535 9 2 11 0.00128461 0.000564972 0.00104305 0.00128461 0.000564972 0.00104305 51 transversion A C A>C 0.850 -0.117 Q Gln CAG 0.744 P Pro CCG 0.115 399 12 1 -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C0 241.31 38.84 Deleterious 0.01 II.72 182 PASS . . . . . . . . . . . ENSG00000183791:ENST00000330682:exon1:c.A1196C:p.Q399P TCEB3C:uc010xdb.2:exon1:c.A1196C:p.Q399P . . . 0.11653116 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.015 . . 738.0 . . . 0.0006 0.001 0.0013 0.0006 0.001 0.0013 . -0.9096 -1.193 -0.910 c . . . . . 5.050e-03 . . . 0.0018 0.0044 0.0017 0 0.0213 0.0054 0.0038 0.0015 0.0018 0.0055 0.0018 0 0.0206 0.0064 0.0040 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.051 @ . . . 0.37 0.39 182 ENSG00000183791 TCEB3C . . . . 0.006 0.112 . . . . . . . Likely_benign . 0 . 0.151 . . . . . . . . . 37 . 0.347 . . 0.344 . . . 0.583 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . 0.592 . . 0.486 . . . . . . 2 0.682 . . . . . 0.493 . . . LowAF 0.01 rs368541577 . . . . . . . . . . . . XI.25 9.97E-4 ENST00000330682 I.52 -3.03 . 0.000000 Q8NG57 . . . 0.001043 . 0.157 . . . 0.0007 0.0034 0.0015 0.0034 0 0.0104 0.0039 0.0025 0.0005 0.0008 0.0046 0 0.0047 0 0.0127 0.0048 0.0140 . . 0.283 . -1.458 -1.458000 . . 0.000000 . . 1.0E-182 0.812 0.296 . 0.135 0.014 . 0.365 . 0.073 -1.458 -1.861 0.0013 . . rs368541577 rs368541577 1 1538 10 1/0 0,141,246 +rs368541577 18 44555018 T G - KATNAL2 25387 Katanin catalytic subunit A1 like 2 NM_001353899.1 1 3426 1695 NP_001340828.1 substitution intron GRCh37 44555018 44555018 Chr18(GRCh37):g.44555018T>G 130-17810 130-17810 NM_001353899.1:c.130-17810T>G p.? p.? 4 3 614697 -17810 3' 86.4423 9.14058 0.965488 8.86086 86.4423 9.14058 0.965488 8.86086 0 rs368541577 yes no Frequency 1 T 0.000000 0 0.003492 0.000735 0.001434 0.003406 0.000000 0.000518 0.004022 0.010696 0.004265 0.010696 754 14 32 28 0 12 421 225 22 215912 19042 22314 8220 12324 23146 104672 21036 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 754 14 32 28 0 12 421 225 22 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 6997 3538 10535 9 2 11 0.00128461 0.000564972 0.00104305 0.00128461 0.000564972 0.00104305 51 transversion T G T>G 0.850 -0.117 182 PASS . . . . . . . . . . . ENSG00000183791:ENST00000330682:exon1:c.A1196C:p.Q399P TCEB3C:uc010xdb.2:exon1:c.A1196C:p.Q399P . . . 0.11653116 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.015 . . 738.0 . . . 0.0006 0.001 0.0013 0.0006 0.001 0.0013 . -0.9096 -1.193 -0.910 c . . . . . 5.050e-03 . . . 0.0018 0.0044 0.0017 0 0.0213 0.0054 0.0038 0.0015 0.0018 0.0055 0.0018 0 0.0206 0.0064 0.0040 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.051 @ . . . 0.37 0.39 182 ENSG00000183791 TCEB3C . . . . 0.006 0.112 . . . . . . . Likely_benign . 0 . 0.151 . . . . . . . . . 37 . 0.347 . . 0.344 . . . 0.583 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . 0.592 . . 0.486 . . . . . . 2 0.682 . . . . . 0.493 . . . LowAF 0.01 rs368541577 . . . . . . . . . . . . XI.25 9.97E-4 ENST00000330682 I.52 -3.03 . 0.000000 Q8NG57 . . . 0.001043 . 0.157 . . . 0.0007 0.0034 0.0015 0.0034 0 0.0104 0.0039 0.0025 0.0005 0.0008 0.0046 0 0.0047 0 0.0127 0.0048 0.0140 . . 0.283 . -1.458 -1.458000 . . 0.000000 . . 1.0E-182 0.812 0.296 . 0.135 0.014 . 0.365 . 0.073 -1.458 -1.861 0.0013 . . rs368541577 rs368541577 1 1538 10 1/0 0,141,246 +rs368541577 18 44555018 T G - TCEB3C 24617 Transcription elongation factor B polypeptide 3C (elongin A3) NM_145653.3 -1 1877 1641 NP_663628.2 Q8NG57 substitution missense exon GRCh37 44555018 44555018 Chr18(GRCh37):g.44555018T>G 1196 1196 NM_145653.3:c.1196A>C p.Gln399Pro p.Gln399Pro 1 RNA polymerase II transcription factor SIII, subunit A rs368541577 yes no Frequency 1 T 0.000000 0 0.003492 0.000735 0.001434 0.003406 0.000000 0.000518 0.004022 0.010696 0.004265 0.010696 754 14 32 28 0 12 421 225 22 215912 19042 22314 8220 12324 23146 104672 21036 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 754 14 32 28 0 12 421 225 22 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 6997 3538 10535 9 2 11 0.00128461 0.000564972 0.00104305 0.00128461 0.000564972 0.00104305 51 transversion A C A>C 0.850 -0.117 Q Gln CAG 0.744 P Pro CCG 0.115 399 16 4 Ciona intestinalis -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C0 241.31 40.46 Deleterious 0.01 II.46 182 PASS . . . . . . . . . . . ENSG00000183791:ENST00000330682:exon1:c.A1196C:p.Q399P TCEB3C:uc010xdb.2:exon1:c.A1196C:p.Q399P . . . 0.11653116 . . @ 86 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.124 . @ . . . . . 1 0.015 . . 738.0 . . . 0.0006 0.001 0.0013 0.0006 0.001 0.0013 . -0.9096 -1.193 -0.910 c . . . . . 5.050e-03 . . . 0.0018 0.0044 0.0017 0 0.0213 0.0054 0.0038 0.0015 0.0018 0.0055 0.0018 0 0.0206 0.0064 0.0040 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.332 . . exonic exonic exonic . . 0.051 @ . . . 0.37 0.39 182 ENSG00000183791 TCEB3C . . . . 0.006 0.112 . . . . . . . Likely_benign . 0 . 0.151 . . . . . . . . . 37 . 0.347 . . 0.344 . . . 0.583 0.588 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.620 . . 0 0 0 0 0 0 . 0.592 . . 0.486 . . . . . . 2 0.682 . . . . . 0.493 . . . LowAF 0.01 rs368541577 . . . . . . . . . . . . XI.25 9.97E-4 ENST00000330682 I.52 -3.03 . 0.000000 Q8NG57 . . . 0.001043 . 0.157 . . . 0.0007 0.0034 0.0015 0.0034 0 0.0104 0.0039 0.0025 0.0005 0.0008 0.0046 0 0.0047 0 0.0127 0.0048 0.0140 . . 0.283 . -1.458 -1.458000 . . 0.000000 . . 1.0E-182 0.812 0.296 . 0.135 0.014 . 0.365 . 0.073 -1.458 -1.861 0.0013 . . rs368541577 rs368541577 1 1538 10 1/0 0,141,246 +rs117990275 18 48991634 T C - LINC01630 52295 Long intergenic non-protein coding RNA 1630 NR_040075.1 1 3188 0 substitution intron GRCh37 48991634 48991634 Chr18(GRCh37):g.48991634T>C 217-143 217-143 NR_040075.1:n.217-143T>C p.? p.? 2 1 -143 3' 81.7638 6.23529 0.971001 5.22233 81.7638 6.23529 0.971001 5.22233 0 rs117990275 no no 0 T 0.000000 0 0.001035 0.000722 0.003937 0.000000 0.001250 0.000000 0.001163 0.000306 0.002212 0.003937 29 6 3 0 2 0 15 1 2 28008 8308 762 268 1600 0 12902 3264 904 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 6 3 0 2 0 15 1 2 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transition T C T>C 0.000 0.770 229 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . 0.1684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.32 0.21 182 ENSG00000227115 LOC100287225 LOC100287225 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117990275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.32 . . . . . . . . . 0.0007 0.0010 0.0039 0 0.0013 0.0003 0.0012 0.0022 . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . rs117990275 rs117990275 1 1538 10 1/0 0,255,255 +. 18 52585077 AC A - CCDC68 24350 Coiled-coil domain containing 68 NM_025214.2 -1 4132 1008 NP_079490.1 Q9H2F9 deletion intron GRCh37 52585077 52585077 Chr18(GRCh37):g.52585077del 873+67 873+67 NM_025214.2:c.873+67del p.? p.? 10 10 616909 67 5' 94.9812 11.083 0.998499 0 94.9812 11.083 0.998499 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24256 6436 712 204 1584 0 11368 3170 782 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 53 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.85714287 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000166510 CCDC68 CCDC68 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,7 +rs192075715 18 53177742 A G - TCF4 11634 Transcription factor 4 NM_001243226.2 -1 8122 2322 NP_001230155.2 substitution intron GRCh37 53177742 53177742 Chr18(GRCh37):g.53177742A>G 452-46374 452-46374 NM_001243226.2:c.452-46374T>C p.? p.? 5 4 602272 -46374 3' 79.7637 11.1321 0.959464 5.29215 79.7637 11.1321 0.959464 5.29215 0 rs192075715 yes no Frequency/1000G 2 A 0.000000 0 0.002995 0.000000 0.005100 0.000000 0.008000 0.002900 0.003618 0.001145 0.001196 0.000000 0.000000 0.000000 0.006137 0.000859 0.006110 0.006137 112 10 1 0 0 0 92 3 6 30960 8736 836 302 1618 0 14992 3494 982 0.008929 0.000000 0.000000 0.000000 0.000000 0.000000 0.010870 0.000000 0.000000 1 0 0 0 0 0 1 0 0 110 10 1 0 0 0 90 3 6 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition T C T>C 0.000 -0.682 255 PASS . 0.0032 0.01 . 0.01 . 0.003 0.0029 . 0.008 0.0051 . . . . . 0.5 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . 0.5081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.14 0.29 182 ENSG00000196628 TCF4 TCF4 . . . . . . 490 0.00754125 64976 476 0.00793518 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192075715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0036 0.0012 0 0 0.0009 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs192075715 rs192075715 1 1538 10 1/0 0,255,255 +. 18 56402637 C G - MALT1 6819 Mucosa associated lymphoid tissue lymphoma translocation gene 1 NM_006785.3 1 5030 2475 NP_006776.1 Q9UDY8 substitution intron GRCh37 56402637 56402637 Chr18(GRCh37):g.56402637C>G 1603+76 1603+76 NM_006785.3:c.1603+76C>G p.? p.? 13 13 604860 76 5' 82.2129 8.37568 0.903232 0 82.2129 8.37568 0.903232 0 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30972 8728 838 302 1622 0 15008 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion C G C>G 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.0925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000267476 MALT1 MALT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.229e-05 0 0 0 0 6.663e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs117312762 (chr18:58284909 T/C) 18 58284909 T C Not on a known gene +rs563696641 18 60190881 C G - ZCCHC2 22916 Zinc finger, CCHC domain containing 2 NM_017742.5 1 5543 3537 NP_060212.4 Q9C0B9 substitution missense exon GRCh37 60190881 60190881 Chr18(GRCh37):g.60190881C>G 224 224 NM_017742.5:c.224C>G p.Ala75Gly p.Ala75Gly 1 -716 5' 94.9812 11.083 0.998132 13.0885 94.9812 11.083 0.998132 13.0885 0 0.000379 0.000000 0.000000 0.000000 0.000000 0.000000 0.000615 0.000000 0.002273 0.000615 11 0 0 0 0 0 9 0 2 29014 8324 974 408 1718 254 14636 1820 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 9 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.984 1.416 A Ala GCG 0.107 G Gly GGG 0.250 75 12 2 Chimp 0 0 0 0 0.74 8.I 9 31 3 60 C0 353.86 0.00 Tolerated 0.13 III.55 255 PASS . . . . . . . . . . . ENSG00000141664:ENST00000269499:exon1:c.C224G:p.A75G ZCCHC2:uc002lip.4:exon1:c.C224G:p.A75G ZCCHC2:NM_017742:exon1:c.C224G:p.A75G . . 0.625 . . @ 10 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.295 . @ . . . . . 1 0.384 . . 16.0 . . . . . . . . . . -0.7030 -0.656 -0.703 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.305 0.0002 . . . . . . ENSG00000141664 ZCCHC2 ZCCHC2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.759 0.092 . . 37 . 0.162 . . 0.065 . . . 0.065 0.229 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.140 . . 0 0 0 0 0 0 . 0.067 . . 0.127 . . . . . . 0 0.105 . . . . . 0.242 . 0.166 . HET 0 . . . . . . . . . . . . . 7.0735 . ENST00000269499 II.66 II.66 . 0.130000 Q9C0B9 . . . . . 0.162 . . II.66 0 0.0009 0 0 0 0 0 0.0244 0 0 0.0003 0 0 0 0 0.0007 0 . . 0.062 . 1.208 1.208000 . . 0.130000 . . 1.0E-255 0.639 0.278 . 0.302 0.972 . 0.332 . 0.279 1.208 0.772 . . . . . 1 1538 10 1/0 0,255,255 +rs112286914 18 61309183 G A - SERPINB4 10570 Serpin peptidase inhibitor, clade B (ovalbumin), member 4 NM_002974.3 -1 1770 1173 NP_002965.1 P48594 substitution intron GRCh37 61309183 61309183 Chr18(GRCh37):g.61309183G>A 223-61 223-61 NM_002974.3:c.223-61C>T p.? p.? 4 3 600518 -61 3' 82.6596 8.1536 0.909901 5.70474 82.6596 8.1536 0.909901 5.90219 0 rs112286914 yes no Frequency 1 G 0.000000 0 0.002198 0.000344 0.001193 0.000000 0.000000 0.000000 0.003933 0.000860 0.002037 0.003933 68 3 1 0 0 0 59 3 2 30934 8722 838 302 1598 0 15002 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 3 1 0 0 0 59 3 2 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.000 -1.005 221 PASS . . . . . . . . . . . . . . . . 0.2195122 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . . . . . . . . -0.2535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.28 182 ENSG00000206073 SERPINB4 SERPINB4 . . . . . . 129 0.00198535 64976 129 0.0021505 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112286914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0022 0.0012 0 0 0.0009 0.0039 0.0020 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs112286914 rs112286914 1 1538 10 1/0 0,255,255 +. 18 61449671 A G - SERPINB7 13902 Serpin peptidase inhibitor, clade B (ovalbumin), member 7 NM_001040147.2 1 1976 1143 NP_001035237.1 O75635 substitution missense exon GRCh37 61449671 61449671 Chr18(GRCh37):g.61449671A>G 65 65 NM_001040147.2:c.65A>G p.Asn22Ser p.Asn22Ser 2 603357 83 3' 85.7197 X.01 0.987661 9.24061 85.7197 X.01 0.987661 9.24061 0 Serpin domain 0.000016 0.000000 0.000030 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000030 4 0 1 0 0 0 3 0 0 246212 15304 33574 9850 17246 30780 111674 22300 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 60 Exomes transition A G A>G 0.354 -0.037 N Asn AAT 0.464 S Ser AGT 0.149 22 12 8 Horse 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 217.19 0.00 Tolerated 0.52 IV.32 255 PASS . . . . . . . . . . . . . . . . 0.4848485 . . @ 32 . . 1.2.2016 0 1 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.043 . @ . . . . . 1 0.182 . . 66.0 . . . . . . . . . . -1.2278 -1.175 -1.228 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.833 . . exonic exonic exonic . . 0.088 @ . . . . . . ENSG00000166396 SERPINB7 SERPINB7 . . . 0.082 0.159 . . . . . . . Likely_benign . 0 . 0.173 . . . . T 0.222 0.008 . . 37 . 0.583 . . 0.479 . . . 0.087 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.139 . . 0.149 . . . . . . 0 0.112 . . . . . 0.497 . 0.028 . HET 0.29 . . . . . . . . . . . . . XI.08 . . V.88 -1.27 . 1.000000 . . . Name\x3desv21739 . . 0.057 . . . 0 1.625e-05 2.979e-05 0 0 0 2.686e-05 0 0 . . . . . . . . . . 0.133 . -0.154 -0.154000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.444 0.751 . 0.137 . 0.251 -0.154 -0.298 . . . . . 1 1538 10 1/0 0,255,255 +. 18 66569375 C T - CCDC102B 26295 Coiled-coil domain containing 102B NM_001093729.1 1 2817 1542 NP_001087198.1 Q68D86 substitution intron GRCh37 66569375 66569375 Chr18(GRCh37):g.66569375C>T 1263+4710 1263+4710 NM_001093729.1:c.1263+4710C>T p.? p.? 8 8 4710 5' 84.8076 9.98517 0.979345 0.862634 84.8076 9.98517 0.979345 0.862634 0 Cryptic Acceptor Weakly Activated 66569382 5.44144 0.10428 80.8014 5.81668 0.157605 82.312 transition C T C>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.4117647 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.2718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . CCDC102B CCDC102B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs148935012 18 74968094 C T - GALR1 4132 Galanin receptor 1 NM_001480.3 1 2787 1050 NP_001471.2 P47211 substitution intron GRCh37 74968094 74968094 Chr18(GRCh37):g.74968094C>T 667-20 667-20 NM_001480.3:c.667-20C>T p.? p.? 2 1 600377 -20 3' 93.5595 7.70217 0.935888 5.93879 93.5595 8.31501 0.948935 5.74385 0.0311693 74968095 -6.59893 rs148935012 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000785 0.000542 0.000588 0.000000 0.000000 0.000000 0.001395 0.000039 0.000935 0.001395 216 13 20 0 0 0 176 1 6 275102 23978 34002 10036 18718 30052 126150 25752 6414 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 216 13 20 0 0 0 176 1 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8585 4401 12986 15 5 20 0.00174419 0.00113482 0.00153775 0.00174419 0.00113482 0.00153775 144 transition C T C>T 0.000 -0.360 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . . . . . . 0.46551725 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . INTRON(MODIFIER||||GALR1|mRNA|CODING|NM_001480|) 0.0011 0.0015 0.0017 0.0011 0.0015 0.0017 . 0.0367 . . . . . . . . 6.789e-04 . . . 0.0006 0.0007 0.0008 0 0.0003 0.0011 0 0 0.0007 0.0007 0.0008 0 0.0002 0.0010 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.14 0.22 182 ENSG00000166573 GALR1 GALR1 . . . . . . 69 0.00106193 64976 67 0.00111693 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148935012 . . . . . . . . . . . . . . . . . . . . . . . 0.001538 . . . . . 0.0007 0.0008 0.0006 0 0 4.492e-05 0.0014 0.0011 0 0.0003 0.0008 0 0 0 0 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs148935012 rs148935012 1 1538 10 1/0 0,255,255 +rs57570668 18 77221393 T C - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221393 77221393 Chr18(GRCh37):g.77221393T>C 1959+27 1959+27 NM_001278669.1:c.1959+27T>C p.? p.? 7 7 600489 27 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.01 0 rs57570668 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.732 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . 0.0485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.25 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs57570668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs57570668 rs57570668 rs57570668 rs57570668 1 1538 10 1/0 0,245,255 +rs61529116 18 77221398 T C - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221398 77221398 Chr18(GRCh37):g.77221398T>C 1959+32 1959+32 NM_001278669.1:c.1959+32T>C p.? p.? 7 7 600489 32 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.42 0 rs61529116 yes no Frequency 1 T 0.000000 0 0.000014 0.000327 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000327 3 3 0 0 0 0 0 0 0 214468 9188 29754 9146 11994 27662 101698 20220 4806 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 87 Exomes transition T C T>C 0.000 -2.700 188 PASS . . . . . . . . . . . . . . . . 0.13235295 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . -0.0122 . . . . . . . . 1.579e-05 . . . 0.0002 2.414e-05 0 0 0 0 0 0 0.0001 1.025e-05 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.29 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs61529116 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 1.399e-05 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . 0.033 rs61529116 rs61529116 rs61529116 rs61529116 1 1538 10 1/0 0,246,255 +rs11665172 18 77221409 G A - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221409 77221409 Chr18(GRCh37):g.77221409G>A 1959+43 1959+43 NM_001278669.1:c.1959+43G>A p.? p.? 7 7 600489 43 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.32 0 rs11665172 yes no Frequency 1 G 0.000000 0 0.000051 0.000000 0.000000 0.000000 0.001027 0.000000 0.000000 0.000000 0.000000 0.001027 11 0 0 0 11 0 0 0 0 214272 7504 28474 8874 10714 25944 105632 21948 5182 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 195 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 68.0 . . . . . . . . . . 0.5984 . . . . . . . . 9.475e-05 . . . 0.0004 9.68e-05 0.0001 0.0005 0 2.84e-05 0 6.771e-05 0.0005 0.0001 0.0001 0.0008 0 2.159e-05 0 6.81e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.19 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs11665172 0.130 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.067e-05 0 0 0.0010 0 0 0 0 0 5.918e-05 0 0 0.0015 0 0 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . 0.13 rs11665172 rs11665172 rs11665172 rs11665172 1 1538 10 1/0 0,247,255 +rs11662893 18 77221412 T C - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221412 77221412 Chr18(GRCh37):g.77221412T>C 1959+46 1959+46 NM_001278669.1:c.1959+46T>C p.? p.? 7 7 600489 46 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.78 0 rs11662893 yes no Frequency 1 T 0.000000 0 0.000052 0.000000 0.000000 0.000000 0.001070 0.000000 0.000000 0.000000 0.000000 0.001070 11 0 0 0 11 0 0 0 0 209680 6958 27940 8586 10282 25154 103890 21786 5084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 11 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.279 196 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . 0.4919 . . . . . . . . 9.475e-05 . . . 0.0004 9.981e-05 0.0001 0.0006 0 2.913e-05 0 6.923e-05 0.0005 0.0001 0.0001 0.0008 0 2.207e-05 0 6.964e-05 . . . . . . intronic intronic intronic . . . @ . . . 0.12 0.21 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11662893 0.141 0.101 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.186e-05 0 0 0.0010 0 0 0 0 0 5.937e-05 0 0 0.0015 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . 0.14 rs11662893 rs11662893 rs11662893 rs11662893 1 1538 10 1/0 0,253,255 +rs61030231 18 77221420 C G - NFATC1 7775 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NM_001278669.1 1 5031 2832 NP_001265598.1 O95644 substitution intron GRCh37 77221420 77221420 Chr18(GRCh37):g.77221420C>G 1959+54 1959+54 NM_001278669.1:c.1959+54C>G p.? p.? 7 7 600489 54 5' 86.7234 X.83 0.994004 XII.86 86.7234 X.83 0.994004 XII.22 0 New Donor Site 77221419 2.20553 0.028975 71.2708 rs61030231 yes no Frequency/1000G 2 C 0.000000 0 transversion C G C>G 0.024 1.658 211 PASS 0.28 0.17 0.12 0.22 0.08 . . . . . . . . . . . 0.1904762 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . 0.7204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.09 0.24 182 ENSG00000131196 NFATC1 NFATC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61030231 0.163 0.123 . . . . . . . . . . . . . . . . . . . . . . . . . . II.22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . 0.28 rs61030231 rs61030231 rs61030231 rs61030231 1 1538 10 1/0 0,255,255 +rs149224075 18 77464913 C T - CTDP1 2498 CTD phosphatase subunit 1 NM_004715.4 1 3753 2886 NP_004706.3 Q9Y5B0 substitution synonymous exon GRCh37 77464913 77464913 Chr18(GRCh37):g.77464913C>T 768 768 NM_004715.4:c.768C>T p.Ile256= p.Ile256Ile 5 604927 -5 5' 90.1175 8.94121 0.908323 6.48938 90.1175 8.94121 0.928457 5.85942 0.00738871 Cryptic Acceptor Strongly Activated 77464918 4.0779 0.123451 72.5271 V.77 0.230903 76.0727 NLI interacting factor FCP1-like phosphatase, phosphatase domain HAD-like domain rs149224075 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000531 0.000336 0.000727 0.000000 0.000000 0.000000 0.000835 0.000080 0.000931 0.000835 146 8 25 0 0 0 105 2 6 275104 23806 34406 10116 18830 30768 125802 24930 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146 8 25 0 0 0 105 2 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8588 4403 12991 8 1 9 0.000930665 0.000227066 0.000692308 0.000930665 0.000227066 0.000692308 43 transition C T C>T 0.102 -1.328 I Ile ATC 0.481 I Ile ATT 0.356 256 255 PASS . . . . . . 0.0006 0.0014 . 0.002 . . . . . . 0.46728972 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . 0.0002 0.0007 0.0009 0.0002 0.0007 0.0009 . 0.2830 . . . . . . . . 4.658e-04 . . . 0.0004 0.0006 0.0007 0 0 0.0009 0.0014 0 0.0002 0.0004 0.0007 0 0 0.0006 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.25 0.36 182 ENSG00000060069 CTDP1 CTDP1 . . . . . . 33 0.00050788 64976 30 0.000500117 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149224075 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.000692 . . . . . 0.0003 0.0005 0.0007 0 0 4.665e-05 0.0008 0.0011 0 0.0005 0.0005 0 0 0 0.0003 0.0008 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0009 . rs73009319 rs149224075 rs149224075 1 1538 10 1/0 0,255,255 +. 19 65877 C T - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution intron GRCh37 65877 65877 Chr19(GRCh37):g.65877C>T 193+469 193+469 NR_033266.1:n.193+469G>A p.? p.? 2 2 469 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transition G A G>A 0.000 -0.682 206 PASS . . . . . . . . . . . . . . . . 0.17857143 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||WASH5P|Non-coding_transcript|NON_CODING|NR_033266|) . . . . . . . -0.4484 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.4 0.23 182 ENSG00000225373 WASH5P WASH5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . rs62028234 rs62028234 rs62028234 rs62028234 1 1538 10 1/0 0,255,255 +. 19 65888 C T - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution intron GRCh37 65888 65888 Chr19(GRCh37):g.65888C>T 193+458 193+458 NR_033266.1:n.193+458G>A p.? p.? 2 2 458 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 Cryptic Acceptor Strongly Activated 65877 2.4e-05 0.896121 1.3e-05 61.3977 transition G A G>A 0.000 -1.409 197 PASS . . . . . . . . . . . . . . . . 0.15625 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||WASH5P|Non-coding_transcript|NON_CODING|NR_033266|) . . . . . . . -0.7029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.41 0.25 182 ENSG00000225373 WASH5P WASH5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs4492552 rs4492552 rs4492552 rs4492552 1 1538 10 1/0 0,255,255 +. 19 65970 T C - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution intron GRCh37 65970 65970 Chr19(GRCh37):g.65970T>C 193+376 193+376 NR_033266.1:n.193+376A>G p.? p.? 2 2 376 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 7.49547 0 transition A G A>G 0.000 -0.763 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . INTRON(MODIFIER||||WASH5P|Non-coding_transcript|NON_CODING|NR_033266|) . . . . . . . -0.9935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.42 0.22 182 ENSG00000225373 WASH5P WASH5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . I.62 . ENST00000391654 0.846 -1.69 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.767 -0.767000 . . 0.000000 . . 1.0E-178 . . . . . . . . . -0.767 . . rs11266849 rs11266849 rs11266849 rs11266849 1 1538 10 1/0 0,253,255 +. 19 66394 G A - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution exon GRCh37 66394 66394 Chr19(GRCh37):g.66394G>A 145 145 NR_033266.1:n.145C>T 2 -49 5' 85.557 8.56441 0.866929 7.49547 85.557 8.56441 0.866929 6.90847 0 Cryptic Acceptor Strongly Activated 66380 0.762218 0.00392 72.2788 1.26595 0.005379 75.0517 transition C T C>T 0.992 2.465 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 17.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R49W|WASH5P|Non-coding_transcript|NON_CODING|NR_033266|NR_033266.ex.2) . . . . . . . 0.8152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.41 0.44 182 ENSG00000225373 WASH5P WASH5P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs11266852 rs11266852 rs11266852 rs11266852 1 1538 10 1/0 0,255,255 +. 19 72018 G T - WASH5P 33884 WAS protein family homolog 5 pseudogene NR_033266.1 -1 1137 0 substitution upstream GRCh37 72018 72018 Chr19(GRCh37):g.72018G>T -1052 -1052 NR_033266.1:n.-1052C>A p.? p.? 1 -1091 5' 84.5905 9.78584 0.923771 X.78 84.5905 9.78584 0.923771 X.78 0 transversion C A C>A 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 15.0 . . . . . . . . . . -0.5612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . @ . . . 0.59 0.12 182 ENSG00000267588 . . . dist\x3d1052\x3bdist\x3d4202 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4248191 rs4248191 rs4248191 rs4248191 1 1538 10 1/0 0,255,255 +. 19 76941 G T - FAM138F 33581 Family with sequence similarity 138, member F NR_026820.1 -1 1130 0 substitution exon GRCh37 76941 76941 Chr19(GRCh37):g.76941G>T 511 511 NR_026820.1:n.511C>A 2 -56 5' 78.8739 8.00287 0.977684 0 78.8739 8.00287 0.977684 0 0 transversion C A C>A 0.803 0.690 186 PASS . . . . . . . . . . . . . . . . 0.12765957 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 47.0 . . . . . . . . . . -0.4979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000233630 FAM138F . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . LowAF 0.12 . . . . . . . . . . . . . . . ENST00000448235 0.7 0.7 . 0.310000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.675 0.675000 . . 0.310000 . . 1.0E-186 . . . . . . . . . 0.675 . . . . . . 1 1538 10 1/0 0,255,255 +. (chr19:156526 C/T) 19 156526 C T Not on a known gene +. (chr19:204881 A/G) 19 204881 A G Not on a known gene +rs56165058 19 613832 C G - HCN2 4846 Hyperpolarization activated cyclic nucleotide-gated potassium channel 2 NM_001194.3 1 3408 2670 NP_001185.3 Q9UL51 substitution intron GRCh37 613832 613832 Chr19(GRCh37):g.613832C>G 1826-20 1826-20 NM_001194.3:c.1826-20C>G p.? p.? 7 6 602781 -20 3' 69.7608 6.05017 0.061028 6.20858 69.7608 5.64012 0.071576 5.32958 0.0350213 rs56165058 yes no Frequency/1000G 2 C 0.000000 0 0.002995 0.000000 0.007200 0.000000 0.004000 0.005800 0.004529 0.000669 0.001859 0.000614 0.000220 0.009716 0.006290 0.001414 0.004687 0.009716 951 12 42 4 3 204 631 33 22 210000 17936 22590 6510 13614 20996 100320 23340 4694 0.000114 0.000000 0.000000 0.000000 0.000000 0.000476 0.000140 0.000000 0.000000 12 0 0 0 0 5 7 0 0 927 12 42 4 3 194 617 33 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8255 4226 12481 43 2 45 0.00518197 0.000473037 0.00359253 0.00518197 0.000473037 0.00359253 14 transversion C G C>G 0.000 -1.005 255 PASS . . . . . . 0.003 0.0058 . 0.004 0.0072 . . . . . 0.4390244 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0005 0.0036 0.0052 0.0005 0.0036 0.0052 . -0.2773 . . . . . . . . 5.228e-03 . . . 0.0010 0.0055 0.0021 0.0004 0.0011 0.0066 0.0090 0.0116 0.0007 0.0055 0.0021 0.0004 0.0013 0.0066 0.0083 0.0117 . . . . . . intronic intronic intronic . . . 0.0030 . . . 0.25 0.34 182 ENSG00000099822 HCN2 HCN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs56165058 . . . . . . . . . . . . . . . . . . . . . . . 0.003593 . . . . . 0.0010 0.0047 0.0019 0.0005 0.0003 0.0014 0.0063 0.0043 0.0097 0.0003 0.0034 0 0.0034 0 0.0017 0.0060 0.0062 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0052 rs56165058 rs56165058 rs56165058 rs56165058 1 1538 10 1/0 0,255,255 +rs56124245 19 615791 G T - HCN2 4846 Hyperpolarization activated cyclic nucleotide-gated potassium channel 2 NM_001194.3 1 3408 2670 NP_001185.3 Q9UL51 substitution splice site GRCh37 615791 615791 Chr19(GRCh37):g.615791G>T 1991-4 1991-4 NM_001194.3:c.1991-4G>T p.? p.? 8 7 602781 -4 3' 82.0658 X.15 0.886787 7.40839 82.0658 8.61212 0.879741 5.75868 -0.0613123 rs56124245 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.007200 0.000000 0.005000 0.005800 0.004925 0.000752 0.002142 0.000494 0.000160 0.010848 0.006808 0.001593 0.004376 0.010848 1357 18 73 5 3 332 857 41 28 275514 23930 34076 10126 18760 30606 125888 25730 6398 0.000094 0.000000 0.000000 0.000000 0.000000 0.000261 0.000143 0.000000 0.000000 13 0 0 0 0 4 9 0 0 1331 18 73 5 3 324 839 41 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8541 4403 12944 59 3 62 0.00686047 0.00068089 0.00476703 0.00686047 0.00068089 0.00476703 54 transversion G T G>T 0.079 -0.037 255 PASS . 0.0014 . . 0.004 . 0.0032 0.0058 . 0.005 0.0072 . . . . . 0.5405405 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . 0.0007 0.0048 0.0069 0.0007 0.0048 0.0069 . 0.1390 . . . . . . . . 5.419e-03 . . . 0.0008 0.0055 0.0021 0.0002 0.0013 0.0066 0.0072 0.0109 0.0006 0.0055 0.0021 0.0003 0.0014 0.0067 0.0072 0.0109 . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.52 0.32 182 ENSG00000099822 HCN2 HCN2 . . . . . . 348 0.00535582 64976 332 0.00553462 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs56124245 . . . . . . . . . . . . . . . . . . . . 0.0002 0.026 . 0.004767 . . . . . 0.0009 0.0051 0.0022 0.0004 0.0002 0.0016 0.0069 0.0041 0.0108 0.0005 0.0035 0 0.0033 0 0.0017 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0069 rs56124245 rs56124245 rs56124245 rs56124245 1 1538 10 1/0 0,255,255 +rs56124245 19 615791 G T - POLRMT 9200 Polymerase (RNA) mitochondrial (DNA directed) NM_005035.3 -1 3800 3693 NP_005026.3 O00411 substitution downstream GRCh37 615791 615791 Chr19(GRCh37):g.615791G>T *1483 *1483 NM_005035.3:c.*1483C>A p.? p.? 21 601778 1533 3' 88.2942 11.0152 0.964569 9.90733 88.2942 11.0152 0.964569 9.90733 0 rs56124245 yes no Frequency/1000G 2 G 0.000000 0 0.003195 0.000000 0.007200 0.000000 0.005000 0.005800 0.004925 0.000752 0.002142 0.000494 0.000160 0.010848 0.006808 0.001593 0.004376 0.010848 1357 18 73 5 3 332 857 41 28 275514 23930 34076 10126 18760 30606 125888 25730 6398 0.000094 0.000000 0.000000 0.000000 0.000000 0.000261 0.000143 0.000000 0.000000 13 0 0 0 0 4 9 0 0 1331 18 73 5 3 324 839 41 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8541 4403 12944 59 3 62 0.00686047 0.00068089 0.00476703 0.00686047 0.00068089 0.00476703 54 transversion C A C>A 0.079 -0.037 255 PASS . 0.0014 . . 0.004 . 0.0032 0.0058 . 0.005 0.0072 . . . . . 0.5405405 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . 0.0007 0.0048 0.0069 0.0007 0.0048 0.0069 . 0.1390 . . . . . . . . 5.419e-03 . . . 0.0008 0.0055 0.0021 0.0002 0.0013 0.0066 0.0072 0.0109 0.0006 0.0055 0.0021 0.0003 0.0014 0.0067 0.0072 0.0109 . . . . . . intronic intronic intronic . . . 0.0032 . . . 0.52 0.32 182 ENSG00000099822 HCN2 HCN2 . . . . . . 348 0.00535582 64976 332 0.00553462 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs56124245 . . . . . . . . . . . . . . . . . . . . 0.0002 0.026 . 0.004767 . . . . . 0.0009 0.0051 0.0022 0.0004 0.0002 0.0016 0.0069 0.0041 0.0108 0.0005 0.0035 0 0.0033 0 0.0017 0.0061 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0069 rs56124245 rs56124245 rs56124245 rs56124245 1 1538 10 1/0 0,255,255 +rs61302100 19 646743 C G - RNF126 21151 Ring finger protein 126 NM_194460.2 -1 1650 936 NP_919442.1 substitution downstream GRCh37 646743 646743 Chr19(GRCh37):g.646743C>G *1385 *1385 NM_194460.2:c.*1385G>C p.? p.? 9 615177 1535 3' 67.088 5.64592 0.012831 6.44015 67.088 5.64592 0.012831 6.44015 0 rs61302100 no no 0 C 0.000000 0 0.004129 0.004366 0.000000 0.003597 0.000000 0.000000 0.004545 0.004207 0.006410 0.004545 120 34 0 1 0 0 65 14 6 29062 7788 816 278 1614 0 14302 3328 936 0.008333 0.029412 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 118 32 0 1 0 0 65 14 6 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transversion G C G>C 0.016 0.125 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . . . . . . . . . -0.1478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream downstream downstream . . . @ . . . 0.2 0.3 182 ENSG00000070423 RNF126 RNF126 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs61302100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0041 0 0.0036 0 0.0042 0.0045 0.0064 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs61302100 rs61302100 rs61302100 rs61302100 1 1538 10 1/0 0,255,255 +rs146602511 19 868105 G A - MED16 17556 Mediator complex subunit 16 NM_005481.2 -1 2924 2634 NP_005472.2 Q9Y2X0 substitution missense exon GRCh37 868105 868105 Chr19(GRCh37):g.868105G>A 2630 2630 NM_005481.2:c.2630C>T p.Pro877Leu p.Pro877Leu 16 604062 147 3' 0 3.51357 0.554546 0 0 3.51357 0.554546 0 0 Cryptic Acceptor Strongly Activated 868085 0.001207 64.6443 0.295879 0.001432 64.6443 rs146602511 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.002000 0.000000 0.006000 0.000000 0.004547 0.001116 0.001918 0.004037 0.000054 0.004737 0.007255 0.001328 0.005347 0.007255 1205 26 63 39 1 143 867 33 33 265016 23294 32842 9660 18508 30186 119510 24844 6172 0.000038 0.000000 0.000000 0.000000 0.000000 0.000199 0.000033 0.000000 0.000000 5 0 0 0 0 3 2 0 0 1195 26 63 39 1 137 863 33 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8526 4391 12917 64 3 67 0.00745052 0.000682749 0.0051602 0.00745052 0.000682749 0.0051602 32 transition C T C>T 0.000 -1.005 P Pro CCG 0.115 L Leu CTG 0.404 877 14 4 Pig -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Tolerated 0.06 IV.32 unknown 0.0 0.0 255 PASS . 0.0027 . . 0.01 . 0.0016 . . 0.006 0.002 . MED16:uc002lqd.1:exon16:c.C2630T:p.P877L MED16:NM_005481:exon16:c.C2630T:p.P877L . . 0.39130434 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.225 . @ . . . . . 1 0.115 . . 69.0 . . . 0.0007 0.0052 0.0075 0.0007 0.0052 0.0075 . -1.6791 -1.761 -1.679 c . . . . . 4.602e-03 . . . 0.0010 0.0047 0.0019 0 0.0011 0.0072 0.0079 0.0050 0.0007 0.0048 0.0019 0.0001 0.0019 0.0070 0.0049 0.0049 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.325 . . exonic exonic exonic . . 0.108 0.0016 . . . 0.42 0.55 182 ENSG00000175221 MED16 MED16 . . . 1.000 0.436 . . . . . . . Likely_benign . 0 . 0.045 . . . . D 0.562 0.035 . . 37 . 0.112 . . 0.216 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.912 . . . . . . . 0.091 . HET 0 rs146602511 . . . . . . . 0.0027472527472527475 0.0 0.0 0.0 0.0079155672823219 . 5.37E-4 ENST00000325464 0.652 -0.65 . 0.000000 Q9Y2X0 . . . 0.005160 . 0.132 . . . 0.0011 0.0045 0.0019 0.0041 5.922e-05 0.0012 0.0070 0.0046 0.0047 0.0011 0.0052 0.0012 0.0033 0 0.0023 0.0088 0.0092 . . 0.522 . -1.056 -1.056000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.008 . 0.029 . 0.017 -1.056 -1.095 0.01 . . rs146602511 rs146602511 1 1538 10 1/0 0,255,255 +rs191871635 19 869047 C T - MED16 17556 Mediator complex subunit 16 NM_005481.2 -1 2924 2634 NP_005472.2 Q9Y2X0 substitution intron GRCh37 869047 869047 Chr19(GRCh37):g.869047C>T 2316-101 2316-101 NM_005481.2:c.2316-101G>A p.? p.? 14 13 604062 -101 3' 83.206 XI.78 0.940525 XII.96 83.206 XI.78 0.940525 XII.96 0 rs191871635 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.000000 0.002000 0.000000 0.006000 0.002900 0.005015 0.000919 0.000000 0.003311 0.000000 0.000000 0.008746 0.002296 0.007143 0.008746 155 8 0 1 0 0 131 8 7 30910 8706 838 302 1622 0 14978 3484 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 155 8 0 1 0 0 131 8 7 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -1.732 255 PASS . 0.0032 0.0028 . 0.01 . 0.002 0.0029 . 0.006 0.002 . . . . . 0.5945946 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . INTRON(MODIFIER||||MED16|mRNA|CODING|NM_005481|) . . . . . . . -0.1397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.14 0.21 182 ENSG00000175221 MED16 MED16 . . . . . . 260 0.00400148 64976 250 0.00416764 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs191871635 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0050 0 0.0033 0 0.0023 0.0087 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs191871635 rs191871635 1 1538 10 1/0 0,255,255 +rs781175964 19 900111 G A - R3HDM4 28270 R3H domain containing 4 NM_138774.3 -1 1809 807 NP_620129.2 Q96D70 substitution missense exon GRCh37 900111 900111 Chr19(GRCh37):g.900111G>A 511 511 NM_138774.3:c.511C>T p.Arg171Cys p.Arg171Cys 5 36 3' 78.3335 8.49216 0.921322 13.8394 78.3335 8.49216 0.921322 13.5614 0 rs781175964 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 0.000019 2 0 0 0 0 0 2 0 0 236554 14806 32214 9234 16804 29930 106466 21878 5222 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 46 Exomes transition C T C>T 1.000 0.851 R Arg CGC 0.190 C Cys TGC 0.552 171 11 9 Tetraodon -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 137.77 112.77 Deleterious 0.04 III.40 good 8.805E-2 0.2896 255 PASS . . . . . . . . . . . . R3HDM4:uc002lqg.2:exon5:c.C511T:p.R171C R3HDM4:NM_138774:exon5:c.C511T:p.R171C . . 0.59574467 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.945 . @ . . . . . 1 0.973 . . 47.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R171C|R3HDM4|mRNA|CODING|NM_138774|NM_138774.ex.5) . . . . . . . 0.3896 0.299 0.390 c . . . . . 3.162e-05 . . . 0 2.417e-05 0 0 0 5.228e-05 0 0 0 9.996e-06 0 0 0 1.921e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.468 . . exonic exonic exonic . . 0.278 @ . . . . . . ENSG00000198858 R3HDM4 R3HDM4 . . . 0.997 0.350 . . . . . . . Uncertain_significance . 0 . 0.311 . . . . D 0.842 0.162 . . 37 . 0.586 . . 0.608 . . . 0.505 0.457 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.864 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.784 . . . . . 0.337 . 0.659 . HET 0 rs781175964 . . . . . . . . . . . . 8.772 . ENST00000361574 III.43 II.32 . 0.000000 Q96D70 . . . . . 0.327 . . II.32 0 8.455e-06 0 0 0 0 1.879e-05 0 0 . . . . . . . . . . 0.730 . 1.466 1.466000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.512 0.989 . 0.516 . 0.551 1.466 -0.045 . . . . . 1 1538 10 1/0 0,255,255 +. 19 991196 CGTCCCAG C - WDR18 17956 WD repeat domain 18 NM_024100.3 1 1551 1299 NP_077005.2 Q9BV38 deletion intron GRCh37 991199 991205 Chr19(GRCh37):g.991199_991205del 807-28 807-22 NM_024100.3:c.807-28_807-22del p.? p.? 7 6 -22 3' 88.1446 X.88 0.96905 13.0829 88.1446 X.88 0.96905 16.0837 0 Cryptic Donor Strongly Activated 991196 6.9e-05 47.9963 0.534902 0.012975 63.852 rs138855476 yes no Frequency/1000G 2 0.000000 0 CCCAGGT 255 Pass . . . . . . . . . . . . . . . . 0.45925927 . . . 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 135 . . INTRON(MODIFIER||||WDR18|mRNA|CODING|NM_024100|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000065268 WDR18 WDR18 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138855476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138855476 rs138855476 1 1538 10 1.I 0,12,34 +rs372784718 19 991204 G C - WDR18 17956 WD repeat domain 18 NM_024100.3 1 1551 1299 NP_077005.2 Q9BV38 substitution intron GRCh37 991204 991204 Chr19(GRCh37):g.991204G>C 807-23 807-23 NM_024100.3:c.807-23G>C p.? p.? 7 6 -23 3' 88.1446 X.88 0.96905 13.0829 88.1446 X.88 0.96905 14.0777 0 rs372784718 yes no Frequency/1000G 2 0.000000 0 0.048123 0.068800 0.065400 0.032700 0.032800 0.028800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54642 3208 10774 2422 3744 7308 20738 5130 1318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 60 Exomes transversion G C G>C 0.000 -0.117 255 PASS . . . . . 0.069 0.048 0.029 0.033 0.033 0.065 . . . . . 0.45112783 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . INTRON(MODIFIER||||WDR18|mRNA|CODING|NM_024100|) . . . . . . . 0.5311 . . . . . . . . 1.809e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0481 . . . . . . ENSG00000065268 WDR18 WDR18 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs372784718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372784718 rs372784718 1 1538 10 1/0 0,245,255 +rs200303627 19 1037640 C T - CNN2 2156 Calponin 2 NM_001303501.1 1 2548 993 NP_001290430.1 substitution missense exon GRCh37 1037640 1037640 Chr19(GRCh37):g.1037640C>T 734 734 NM_001303501.1:c.734C>T p.Pro245Leu p.Pro245Leu 7 602373 17 3' 91.8398 XII.14 0.995953 15.1742 91.8398 XII.14 0.994139 15.137 -0.000607124 rs200303627 yes no Frequency 1 C 0.000000 0 0.000297 0.000804 0.000147 0.000000 0.000222 0.000000 0.000393 0.000162 0.000329 0.000804 78 16 5 0 4 0 47 4 2 262976 19910 33944 9988 18040 30658 119692 24666 6078 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 78 16 5 0 4 0 47 4 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 4.483 P Pro CCC 0.328 L Leu CTC 0.197 245 12 9 Zebrafish -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 353.86 0.00 Deleterious 0 IV.32 190 PASS . . . . . . . . . . . . . . . . 0.13432837 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.516 . @ . . . . . 1 0.603 . . 201.0 . . . . . . . . . . 0.2082 0.268 0.208 c . . . . . 1.629e-03 . . . 0.0058 0.0013 0.0004 0 0.0003 0.0015 0 0 0.0060 0.0008 0.0004 0 0.0002 0.0006 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.394 . . exonic exonic exonic . . 0.497 @ . . . 0.41 0.45 182 ENSG00000064666 CNN2 CNN2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.790 0.112 . . 37 . 0.455 . . 0.450 . . . 0.387 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.920 . . 0 0 0 0 0 0 . 0.401 . . 0.464 . . . . . . 0 0.367 . . . . . 0.650 . 0.728 . LowAF 0.11 rs200303627 . . . . . . . . . . . . 14.1922 0.007202 . IV.26 IV.26 . 0.110000 . . . . . . 0.491 . . IV.26 0.0006 0.0002 2.994e-05 0 0 0 0.0003 0.0002 0 0.0014 0.0014 0.0074 0 0.0045 0.0017 0.0009 0.0015 . . 0.854 . 2.196 2.196000 . . 0.110000 . . 1.0E-190 1.000 0.715 . 0.276 0.947 . 0.675 . 0.167 2.196 -0.019 . . . rs200303627 rs200303627 1 1538 10 1/0 0,199,255 +. 19 1037645 AC A - CNN2 2156 Calponin 2 NM_001303501.1 1 2548 993 NP_001290430.1 deletion frameshift exon GRCh37 1037648 1037648 Chr19(GRCh37):g.1037648del 742 742 NM_001303501.1:c.742del p.Arg248Glyfs*113 p.Arg248Glyfs*113 7 602373 25 3' 91.8398 XII.14 0.995953 15.1742 91.8398 XII.14 0.995953 16.1143 0 rs371146424 yes no Frequency 1 C 0.000000 0 0.000443 0.001227 0.000148 0.000100 0.000446 0.000000 0.000570 0.000367 0.000166 0.001227 116 24 5 1 8 0 68 9 1 261872 19562 33892 9976 17956 30678 119238 24536 6034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 116 24 5 1 8 0 68 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7625 3873 11498 311 229 540 0.0391885 0.0558264 0.0448579 0.0391885 0.0558264 0.0448579 87 COSM5833597 Breast 0.000815 2453 C 255 Pass . . . . . . . . . . . . . . . . 0.14018692 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 214 . . . . . . 0.056 0.045 0.039 . . . . . . . . . . 1.626e-03 . . . 0.0061 0.0014 0.0004 0 0.0003 0.0015 0 0 0.0064 0.0008 0.0004 0 0.0002 0.0006 0 0 frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000064666 CNN2 CNN2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs371146424 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 2.997e-05 0.0001 0 0 0.0004 0.0002 0 0.0032 0.0030 0.0077 0 0.0098 0.0040 0.0023 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371146424 rs371146424 1 1538 10 1.I 0,6,85 +rs548043784 19 1048818 A C - ABCA7 37 ATP-binding cassette, sub-family A (ABC1), member 7 NM_019112.3 1 6819 6441 NP_061985.2 Q8IZY2 substitution intron GRCh37 1048818 1048818 Chr19(GRCh37):g.1048818A>C 2270-76 2270-76 NM_019112.3:c.2270-76A>C p.? p.? 17 16 605414 -76 3' 79.6328 XII.61 0.879543 5.44377 79.6328 XII.61 0.879543 5.24958 0 rs548043784 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000067 0.000118 0.000000 0.000000 0.000000 0.000000 0.000069 0.000000 0.000000 0.000118 2 1 0 0 0 0 1 0 0 29890 8454 828 296 1620 0 14522 3246 924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 35 Genomes transversion A C A>C 0.039 -1.489 255 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.57894737 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||ABCA7|mRNA|CODING|NM_019112|) . . . . . . . -0.3915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000064687 ABCA7 ABCA7 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs548043784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.691e-05 0 0 0 0 6.886e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149452932 19 1085965 C T - ARHGAP45 17102 Rho GTPase activating protein 45 NM_001258328.2 1 5387 3459 NP_001245257.1 substitution missense exon GRCh37 1085965 1085965 Chr19(GRCh37):g.1085965C>T 3419 3419 NM_001258328.2:c.3419C>T p.Thr1140Ile p.Thr1140Ile 23 601155 307 3' 78.3968 X.41 0.978499 XII.24 78.3968 X.41 0.978499 XII.24 0 Cryptic Acceptor Weakly Activated 1085981 6.29452 0.319627 82.7368 6.60916 0.400585 82.7368 rs149452932 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.007240 0.001249 0.001164 0.002601 0.000000 0.000716 0.009935 0.022664 0.007512 0.022664 1971 29 40 26 0 22 1223 583 48 272234 23210 34350 9998 18752 30712 123098 25724 6390 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000162 0.000466 0.000000 16 0 0 0 0 0 10 6 0 1939 29 40 26 0 22 1203 571 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8538 4359 12897 8 1 9 0.00093611 0.000229358 0.00069735 0.00093611 0.000229358 0.00069735 49 COSM5365384 Large intestine 0.000448 2231 transition C T C>T 0.000 0.205 T Thr ACA 0.280 I Ile ATA 0.163 1140 -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 255 PASS . . . . . . 0.0014 0.0029 . 0.005 . . . . . . 0.4550562 . . @ 81 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.051 . . 178.0 . . . 0.0002 0.0007 0.0009 0.0002 0.0007 0.0009 . -1.1148 -1.139 -1.115 c . . . . . 7.510e-03 . . . 0.0015 0.0049 0.0013 0 0.0253 0.0074 0.0045 0.0004 0.0013 0.0075 0.0013 0 0.0229 0.0112 0.0073 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.175 0.0014 . . . 0.27 0.44 182 ENSG00000180448 HMHA1 HMHA1 . . . 1.000 0.517 . . . . . . . Likely_benign . 0 . 0.030 . . . . . . . . . 37 . 0.146 . . 0.249 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 3 0.251 . . . . . 0.220 . 0.059 . HET 0.32 rs149452932 . . . . . . . . . . . . VI.87 5.4E-4 . IV.21 0.759 . 0.450000 . . . . 0.000697 . 0.164 . . . 0.0013 0.0072 0.0012 0.0026 0 0.0225 0.0101 0.0074 0.0007 0.0011 0.0074 0.0012 0.0033 0 0.0235 0.0085 0.0081 . . 0.522 . -0.035 -0.035000 . . 0.450000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.183 . 0.313 -0.035 0.871 0.0009 . . rs149452932 rs149452932 1 1538 10 1/0 0,234,255 +rs149452932 19 1085965 C T - POLR2E 9192 Polymerase (RNA) II (DNA directed) polypeptide E, 25kDa NM_002695.3 -1 2866 633 NP_002686.2 P19388 substitution downstream GRCh37 1085965 1085965 Chr19(GRCh37):g.1085965C>T *2769 *2769 NM_002695.3:c.*2769G>A p.? p.? 8 180664 2755 3' 73.2346 7.87813 0.877012 X.14 73.2346 7.87813 0.877012 X.14 0 rs149452932 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.005000 0.002900 0.007240 0.001249 0.001164 0.002601 0.000000 0.000716 0.009935 0.022664 0.007512 0.022664 1971 29 40 26 0 22 1223 583 48 272234 23210 34350 9998 18752 30712 123098 25724 6390 0.000118 0.000000 0.000000 0.000000 0.000000 0.000000 0.000162 0.000466 0.000000 16 0 0 0 0 0 10 6 0 1939 29 40 26 0 22 1203 571 48 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8538 4359 12897 8 1 9 0.00093611 0.000229358 0.00069735 0.00093611 0.000229358 0.00069735 49 COSM5365384 Large intestine 0.000448 2231 transition G A G>A 0.000 0.205 255 PASS . . . . . . 0.0014 0.0029 . 0.005 . . . . . . 0.4550562 . . @ 81 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.051 . . 178.0 . . . 0.0002 0.0007 0.0009 0.0002 0.0007 0.0009 . -1.1148 -1.139 -1.115 c . . . . . 7.510e-03 . . . 0.0015 0.0049 0.0013 0 0.0253 0.0074 0.0045 0.0004 0.0013 0.0075 0.0013 0 0.0229 0.0112 0.0073 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.175 0.0014 . . . 0.27 0.44 182 ENSG00000180448 HMHA1 HMHA1 . . . 1.000 0.517 . . . . . . . Likely_benign . 0 . 0.030 . . . . . . . . . 37 . 0.146 . . 0.249 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.242 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 3 0.251 . . . . . 0.220 . 0.059 . HET 0.32 rs149452932 . . . . . . . . . . . . VI.87 5.4E-4 . IV.21 0.759 . 0.450000 . . . . 0.000697 . 0.164 . . . 0.0013 0.0072 0.0012 0.0026 0 0.0225 0.0101 0.0074 0.0007 0.0011 0.0074 0.0012 0.0033 0 0.0235 0.0085 0.0081 . . 0.522 . -0.035 -0.035000 . . 0.450000 . . 1.0E-255 0.000 0.063 . 0.043 0.001 . 0.183 . 0.313 -0.035 0.871 0.0009 . . rs149452932 rs149452932 1 1538 10 1/0 0,234,255 +rs144165419 19 2222325 G A - DOT1L 24948 DOT1-like, histone H3 methyltransferase (S. cerevisiae) NM_032482.2 1 7436 4614 NP_115871.1 substitution missense exon GRCh37 2222325 2222325 Chr19(GRCh37):g.2222325G>A 3157 3157 NM_032482.2:c.3157G>A p.Ala1053Thr p.Ala1053Thr 24 607375 -234 5' 86.1635 9.33191 0.996332 7.70818 86.1635 9.33191 0.996332 7.70818 0 Cryptic Donor Strongly Activated 2222322 VI.47 0.28391 71.3225 8.59832 0.947442 75.6848 Histone H3-K79 methyltransferase, metazoa rs144165419 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.000000 0.004100 0.000000 0.003000 0.010100 0.001723 0.000126 0.001803 0.007520 0.000106 0.002243 0.001727 0.000974 0.003270 0.007520 475 3 62 76 2 69 217 25 21 275712 23864 34396 10106 18830 30766 125658 25670 6422 0.000022 0.000000 0.000058 0.000000 0.000000 0.000130 0.000000 0.000000 0.000000 3 0 1 0 0 2 0 0 0 469 3 60 76 2 65 217 25 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8463 4244 12707 9 0 9 0.00106232 0 0.00070777 0.00106232 0 0.00070777 31 transition G A G>A 0.000 -0.440 A Ala GCG 0.107 T Thr ACG 0.116 1053 11 2 Chimp 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.68 III.36 good 4.662E-1 0.2619 255 PASS . 0.0041 0.01 0.01 0.0013 . 0.0028 0.01 . 0.003 0.0041 ENSG00000104885:ENST00000398665:exon24:c.G3157A:p.A1053T . DOT1L:NM_032482:exon24:c.G3157A:p.A1053T . . 0.5692308 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.051 . @ . . . . . 1 0.167 . . 65.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A1053T|DOT1L|mRNA|CODING|NM_032482|NM_032482.ex.24) . 0.0007 0.0011 . 0.0007 0.0011 . -1.2583 -1.343 -1.258 c . . . . . 1.788e-03 . . . 0.0003 0.0023 0.0014 0.0002 0.0016 0.0035 0 0.0022 0.0001 0.0018 0.0014 0.0001 0.0013 0.0024 0.0015 0.0022 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.241 . . exonic exonic exonic . . 0.038 0.0028 . . . 0.46 0.33 182 ENSG00000104885 DOT1L DOT1L . . . 0.004 0.103 . 82 0.001262 64976 68 0.0011336 59986 Uncertain_significance . 0 . 0.040 . . . . . . . . . 37 . 0.115 . . 0.321 . . . 0.126 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.129 . . 0 0 0 0 0 0 . 0.126 . . 0.121 . . . . . . 0 0.155 . . . . . 0.006 . 0.280 . HET 0 rs144165419 . . . . . . . 0.004120879120879121 0.0 0.011049723756906077 0.006993006993006993 0.0013192612137203166 0.5657 0.0 . IV.58 -4.01 . 0.000000 . . . . 0.000708 . 0.149 . . . 0.0001 0.0019 0.0018 0.0076 0.0001 0.0011 0.0018 0.0033 0.0022 0.0001 0.0007 0 0.0033 0 0.0003 0.0010 0.0031 . . 0.817 . -0.489 -0.489000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.170 . 0.135 -0.489 0.069 0.01 . . rs144165419 rs144165419 1 1538 10 1/0 0,255,255 +rs117374034 19 2244692 C T - SF3A2 10766 Splicing factor 3a, subunit 2, 66kDa NM_007165.4 1 1650 1395 NP_009096.2 Q15428 substitution intron GRCh37 2244692 2244692 Chr19(GRCh37):g.2244692C>T 199-40 199-40 NM_007165.4:c.199-40C>T p.? p.? 4 3 600796 -40 3' 90.011 X.41 0.948032 10.0983 90.011 X.41 0.948032 9.98669 0 rs117374034 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.002300 0.006100 0.000000 0.016900 0.000000 0.007340 0.003628 0.004969 0.001087 0.000000 0.002632 0.012503 0.002219 0.006826 0.012503 2030 87 171 11 0 81 1579 57 44 276572 23982 34416 10122 18858 30774 126286 25688 6446 0.000065 0.000083 0.000000 0.000000 0.000000 0.000065 0.000095 0.000000 0.000310 9 1 0 0 0 1 6 0 1 2012 85 171 11 0 79 1567 57 42 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8516 4390 12906 82 16 98 0.0095371 0.00363141 0.00753614 0.0095371 0.00363141 0.00753614 71 transition C T C>T 0.000 -1.086 255 PASS . 0.01 . . 0.02 0.0023 0.0052 . . 0.017 0.0061 . . . . . 0.5458515 . . @ 125 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 229.0 . . . 0.0036 0.0075 0.0095 0.0036 0.0075 0.0095 . -0.0911 . . . . . . . . 7.073e-03 . . . 0.0042 0.0069 0.0035 0 0.0011 0.0117 0.0057 0.0025 0.0039 0.0067 0.0035 0 0.0018 0.0105 0.0102 0.0026 . . . . . . intronic intronic intronic . . . 0.0052 . . . 0.3 0.1 182 ENSG00000104897 SF3A2 SF3A2 . . . . . . 884 0.013605 64976 858 0.0143033 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117374034 . . . . . . . . . . . . . . . . . . . . . . . 0.007536 . . . . . 0.0040 0.0075 0.0050 0.0011 0 0.0022 0.0128 0.0068 0.0026 0.0030 0.0064 0.0048 0 0 0.0026 0.0102 0.0071 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs117374034 rs117374034 1 1538 10 1/0 0,225,234 +. 19 2341093 CCTCCCTGGA C - SPPL2B 30627 Signal peptide peptidase like 2B NM_152988.2 1 3752 1779 NP_694533.1 Q8TCT7 deletion intron NG_032984.1 17467 17475 NG_032984.1:g.17467_17475del 956+82 956+90 NM_152988.2:c.956+82_956+90del p.? p.? 8 8 608239 82 5' 78.9497 9.09184 0.991867 15.3469 78.9497 9.09184 0.991867 15.0928 0 Cryptic Acceptor Strongly Activated 17487 0.003686 3.45189 0.007919 65.2377 rs547300749 no no 0 0.000000 0 CTCCCTGGA 255 Pass . . . . . . . . . . . . . . . . 0.5151515 . . . 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion . . . . ncRNA_exonic exonic intronic . . . . . . . . . . ENSG00000005206 SPPL2B SPPL2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs547300749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,29 +rs745964036 19 2341103 G A - SPPL2B 30627 Signal peptide peptidase like 2B NM_152988.2 1 3752 1779 NP_694533.1 Q8TCT7 substitution intron NG_032984.1 17476 17476 NG_032984.1:g.17476G>A 956+91 956+91 NM_152988.2:c.956+91G>A p.? p.? 8 8 608239 91 5' 78.9497 9.09184 0.991867 15.3469 78.9497 9.09184 0.991867 15.3469 0 New Acceptor Site 17478 5.23554 0.002677 66 rs745964036 yes no Frequency 1 0.000000 0 0.000019 0.000000 0.000000 0.000000 0.000124 0.000000 0.000023 0.000000 0.000000 0.000124 2 0 0 0 1 0 1 0 0 104646 7348 15798 5638 8072 18152 42874 4146 2618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 78 Exomes transition G A G>A 0.000 255 PASS . . . . . . . . . . . . . . . . 0.4742268 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . 0.4847 . . . . . . . . 6.501e-05 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0003 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic intronic . . . @ . . . . . . ENSG00000005206 SPPL2B SPPL2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs745964036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.911e-05 0 0 0.0001 0 2.332e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs148213507 19 2438529 G A - LMNB2 6638 Lamin B2 NM_032737.3 -1 4644 1863 NP_116126.3 substitution synonymous exon GRCh37 2438529 2438529 Chr19(GRCh37):g.2438529G>A 402 402 NM_032737.3:c.402C>T p.Ser134= p.Ser134Ser 3 150341 1 3' 86.1162 X.65 0.84386 X.45 85.6304 10.1656 0.885691 9.97185 0.00260592 Filament rs148213507 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001319 0.000338 0.000933 0.000602 0.000106 0.000033 0.002305 0.000790 0.001100 0.002305 358 8 32 6 2 1 282 20 7 271396 23672 34290 9970 18812 30622 122344 25320 6366 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 356 8 32 6 2 1 280 20 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8583 4399 12982 15 3 18 0.00174459 0.000681508 0.00138462 0.00174459 0.000681508 0.00138462 26 RCV000502022.1 germline clinical testing Likely benign 1 not specified COSM3422621 Large intestine 0.000443 2257 transition C T C>T 0.992 0.851 S Ser AGC 0.243 S Ser AGT 0.149 134 255 PASS . 0.0014 . . 0.004 . 0.0004 . . 0.002 . . LMNB2:uc002lvy.4:exon3:c.C402T:p.S134S LMNB2:NM_032737:exon3:c.C402T:p.S134S . . 0.5121951 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 41.0 . . . 0.0007 0.0014 0.0017 0.0007 0.0014 0.0017 . I.37 . . . . . . . . 1.323e-03 . . . 0.0002 0.0014 0.0003 0.0002 0.0005 0.0027 0.0016 0.0001 0.0002 0.0013 0.0002 0.0003 0.0009 0.0022 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.42 0.22 182 ENSG00000176619 LMNB2 LMNB2 . . . . . . 99 0.00152364 64976 97 0.00161704 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148213507 . . . . . . ID\x3dCOSM3422621\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . 0.0125 0.18 . 0.001385 . . . . 3.III 0.0002 0.0014 0.0009 0.0006 0.0001 0.0007 0.0024 0.0013 3.266e-05 0.0006 0.0011 0.0012 0 0 0.0014 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs148213507 rs148213507 1 1538 10 1/0 0,255,255 +rs74635330 19 2630894 A T - GNG7 4410 Guanine nucleotide binding protein (G protein), gamma 7 NM_052847.2 -1 4146 207 NP_443079.1 O60262 substitution intron GRCh37 2630894 2630894 Chr19(GRCh37):g.2630894A>T 15250 15250 NM_052847.2:c.-78+15328T>A p.? p.? 1 1 604430 15328 5' 80.0369 VII.76 0.686642 3.79786 80.0369 VII.76 0.686642 3.79786 0 rs74635330 yes no Frequency/1000G 2 A 0.000000 0 0.004792 0.001500 0.006100 0.000000 0.012900 0.004300 0.007535 0.001950 0.004773 0.003311 0.000000 0.000000 0.009685 0.016055 0.010204 0.016055 233 17 4 1 0 0 145 56 10 30922 8720 838 302 1622 0 14972 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 233 17 4 1 0 0 145 56 10 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion T A T>A 0.000 -1.651 255 PASS . 0.01 0.0028 . 0.02 0.0015 0.0048 0.0043 . 0.013 0.0061 . . . . . 0.5084746 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.5217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.36 0.22 182 ENSG00000176533 GNG7 GNG7 . . . . . . 664 0.0102192 64976 641 0.0106858 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs74635330 0.033 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0075 0.0048 0.0033 0 0.0161 0.0097 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs74635330 rs74635330 1 1538 10 1/0 0,255,255 +rs74635330 19 2630894 A T - MIR7850 50118 MicroRNA 7850 NR_107004.1 1 79 0 substitution downstream GRCh37 2630894 2630894 Chr19(GRCh37):g.2630894A>T *103 *103 NR_107004.1:n.*103A>T p.? p.? 1 rs74635330 yes no Frequency/1000G 2 A 0.000000 0 0.004792 0.001500 0.006100 0.000000 0.012900 0.004300 0.007535 0.001950 0.004773 0.003311 0.000000 0.000000 0.009685 0.016055 0.010204 0.016055 233 17 4 1 0 0 145 56 10 30922 8720 838 302 1622 0 14972 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 233 17 4 1 0 0 145 56 10 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transversion A T A>T 0.000 -1.651 255 PASS . 0.01 0.0028 . 0.02 0.0015 0.0048 0.0043 . 0.013 0.0061 . . . . . 0.5084746 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.5217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.36 0.22 182 ENSG00000176533 GNG7 GNG7 . . . . . . 664 0.0102192 64976 641 0.0106858 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs74635330 0.033 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0075 0.0048 0.0033 0 0.0161 0.0097 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs74635330 rs74635330 1 1538 10 1/0 0,255,255 +. 19 2785755 C T - THOP1 11793 Thimet oligopeptidase 1 NM_003249.4 1 2601 2070 NP_003240.1 P52888 substitution intron GRCh37 2785755 2785755 Chr19(GRCh37):g.2785755C>T 16+79 16+79 NM_003249.4:c.16+79C>T p.? p.? 1 1 601117 79 5' 71.4999 10.0514 0.900451 9.91061 71.4999 10.0514 0.900451 9.74899 0 Cryptic Donor Weakly Activated 2785753 69.7236 5.63509 0.253876 74.4082 transition C T C>T 0.016 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.5675676 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 1.1342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000172009 THOP1 THOP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs139846934 19 2933733 G A - ZNF77 13150 Zinc finger protein 77 NM_021217.2 -1 2040 1638 NP_067040.1 Q15935 substitution synonymous exon GRCh37 2933733 2933733 Chr19(GRCh37):g.2933733G>A 1392 1392 NM_021217.2:c.1392C>T p.Tyr464= p.Tyr464Tyr 4 194551 1081 3' 78.1636 6.28929 0.703122 2.79112 78.1636 6.28929 0.703122 2.79112 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs139846934 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.001000 0.000000 0.002000 0.000000 0.001516 0.000541 0.000262 0.000894 0.000106 0.002478 0.002344 0.000155 0.001551 0.002478 419 13 9 9 2 76 296 4 10 276464 24026 34366 10072 18858 30668 126296 25730 6448 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 417 13 9 9 2 74 296 4 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4405 12984 21 1 22 0.00244186 0.000226963 0.00169153 0.00244186 0.000226963 0.00169153 109 COSM5113463 Large intestine 0.000896 2231 transition C T C>T 0.000 -0.440 Y Tyr TAC 0.562 Y Tyr TAT 0.438 464 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.002 0.001 ENSG00000175691:ENST00000314531:exon4:c.C1392T:p.Y464Y ZNF77:uc002lws.4:exon4:c.C1392T:p.Y464Y ZNF77:NM_021217:exon4:c.C1392T:p.Y464Y . . 0.41509435 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y464|ZNF77|mRNA|CODING|NM_021217|NM_021217.ex.4) 0.0002 0.0017 0.0024 0.0002 0.0017 0.0024 . -0.3436 . . . . . . . . 1.436e-03 . . . 0.0006 0.0015 0.0003 0.0002 0 0.0022 0.0014 0.0021 0.0004 0.0014 0.0004 0.0001 0 0.0019 0.0014 0.0021 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . 0.25 0.27 182 ENSG00000175691 ZNF77 ZNF77 . . . . . . 99 0.00152364 64976 96 0.00160037 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139846934 . . . . . . . . . . . . . . . . . . . . . . . 0.001692 . . . . . 0.0004 0.0015 0.0002 0.0009 0.0001 0.0002 0.0022 0.0013 0.0025 0.0008 0.0020 0.0012 0 0 0 0.0033 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs139846934 rs139846934 1 1538 10 1/0 0,255,255 +rs439808 19 2994814 T C - TLE6 30788 Transducin-like enhancer of split 6 NM_001143986.1 1 2008 1719 NP_001137458.1 Q9H808 substitution intron GRCh37 2994814 2994814 Chr19(GRCh37):g.2994814T>C 1615-84 1615-84 NM_001143986.1:c.1615-84T>C p.? p.? 17 16 612399 -84 3' 83.2917 IX.97 0.926518 14.3816 83.2917 IX.97 0.926518 14.3816 0 2994816 -24.7594 rs439808 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 1.000000 0.999714 1.000000 1.000000 30919 8706 838 300 1616 0 14988 3491 980 30920 8706 838 300 1616 0 14988 3492 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.500000 0.499857 0.500000 15459 4353 419 150 808 0 7494 1745 490 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 0.000 0.044 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 48.0 . . . . . . . . . . -0.4773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.18 0.24 182 ENSG00000104953 TLE6 TLE6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HOM . rs439808 0.793 0.768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 0.9997 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs439808 rs439808 rs439808 rs439808 1 1538 255 1.I 0,0,255 +rs369543849 19 3055761 C T - AES 307 Amino-terminal enhancer of split NM_198969.1 -1 1743 795 NP_945320.1 substitution intron GRCh37 3055761 3055761 Chr19(GRCh37):g.3055761C>T 436-37 436-37 NM_198969.1:c.436-37G>A p.? p.? 5 4 600188 -37 3' 90.1447 VIII.66 0.840351 4.14206 90.1447 VIII.66 0.840351 IV.25 0 Cryptic Acceptor Weakly Activated 3055755 V.71 0.599649 75.8606 5.82073 0.638419 75.8606 rs369543849 yes no Frequency 1 C 0.000000 0 0.000080 0.000043 0.000000 0.000000 0.000000 0.000000 0.000145 0.000084 0.000000 0.000145 19 1 0 0 0 0 16 2 0 237274 23104 26496 7000 16622 24754 110172 23808 5318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 1 0 0 0 0 16 2 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 44 transition G A G>A 0.000 -4.395 255 PASS . . . . . . . . . . . . . . . . 0.5510204 . . @ 81 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.0091 . . . . . . . . 6.323e-05 . . . 0 7.242e-05 0 0 0 0.0002 0 0 0 3.015e-05 0 0 0.0002 3.802e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.25 182 ENSG00000104964 AES AES . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369543849 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 6.952e-05 7.755e-05 0 0 0 9.843e-05 0.0001 0 0 0 9.695e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs369543849 rs369543849 1 1538 10 1/0 0,246,255 +rs201749907 19 3543597 G A - C19orf71 34496 Chromosome 19 open reading frame 71 NM_001135580.1 1 671 630 NP_001129052.1 A6NCJ1 substitution missense exon GRCh37 3543597 3543597 Chr19(GRCh37):g.3543597G>A 367 367 NM_001135580.1:c.367G>A p.Val123Ile p.Val123Ile 3 45 3' 69.9511 4.30913 0.037488 3.39195 69.9511 4.30913 0.037488 3.16194 0 rs201749907 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.021500 0.000000 0.003000 0.001400 0.006590 0.000619 0.001989 0.024738 0.000170 0.019414 0.005606 0.000741 0.005750 0.024738 1130 10 49 208 2 440 383 11 27 171466 16150 24634 8408 11758 22664 68314 14842 4696 0.000175 0.000000 0.000081 0.000238 0.000000 0.000882 0.000088 0.000000 0.000000 15 0 1 1 0 10 3 0 0 1100 10 47 206 2 420 377 11 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3163 1383 4546 19 1 20 0.00597109 0.000722543 0.0043802 0.00597109 0.000722543 0.0043802 98 transition G A G>A 0.000 -2.781 V Val GTC 0.240 I Ile ATC 0.481 123 12 6 Megabat 3 3 4 0 0 5.IX 5.II 84 111 29 C0 30.92 0.00 Tolerated 1 III.76 good 9.798E-1 0.001732 255 PASS . . . . . . 0.005 0.0014 . 0.003 0.021 ENSG00000183397:ENST00000329493:exon3:c.G367A:p.V123I C19orf71:uc010xhm.2:exon3:c.G367A:p.V123I C19orf71:NM_001135580:exon3:c.G367A:p.V123I . . 0.6 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.187 . . 20.0 . . . 0.0007 0.0044 0.006 0.0007 0.0044 0.006 . -2.1950 -2.220 -2.195 c . . . . . 7.805e-03 . . . 0 0.0139 0.0071 0 0 0.0092 0.0123 0.0230 0 0.0161 0.0101 0 0 0.0104 0.0179 0.0231 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.007 0.0050 . . . 0.32 0.26 182 ENSG00000183397 C19orf71 C19orf71 . . . 1.000 0.747 . 186 0.0028626 64976 165 0.00275064 59986 Likely_benign . 0 . 0.062 . . . . . . . . . 37 . 0.040 . . 0.254 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.066 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 2 0.010 . . . . . 0.377 . 0.059 . HET 1 rs201749907 0.022 0.014 . . . . . . . . . . IX.42 0.001425 ENST00000329493 IV.41 -8.83 . 1.000000 A6NCJ1 . . . 0.004380 . 0.059 . . . 0.0003 0.0070 0.0020 0.0249 9.864e-05 0.0009 0.0048 0.0059 0.0194 0.0009 0.0049 0.0024 0.0199 0.0006 0.0003 0.0087 0.0051 . . 0.495 . -2.771 -2.771000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.148 . 0.013 . 0.031 -2.771 0.091 0.022 . . rs201749907 rs201749907 1 1538 10 1/0 0,255,255 +rs201749907 19 3543597 G A - MFSD12 28299 Major facilitator superfamily domain containing 12 NM_174983.4 -1 2135 1443 NP_778148.2 Q6NUT3 substitution downstream GRCh37 3543597 3543597 Chr19(GRCh37):g.3543597G>A *1111 *1111 NM_174983.4:c.*1111C>T p.? p.? 10 617745 1134 3' 85.9048 XI.85 0.965784 13.5725 85.9048 XI.85 0.965784 13.5725 0 rs201749907 yes no Frequency/1000G 2 G 0.000000 0 0.004992 0.000000 0.021500 0.000000 0.003000 0.001400 0.006590 0.000619 0.001989 0.024738 0.000170 0.019414 0.005606 0.000741 0.005750 0.024738 1130 10 49 208 2 440 383 11 27 171466 16150 24634 8408 11758 22664 68314 14842 4696 0.000175 0.000000 0.000081 0.000238 0.000000 0.000882 0.000088 0.000000 0.000000 15 0 1 1 0 10 3 0 0 1100 10 47 206 2 420 377 11 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3163 1383 4546 19 1 20 0.00597109 0.000722543 0.0043802 0.00597109 0.000722543 0.0043802 98 transition C T C>T 0.000 -2.781 255 PASS . . . . . . 0.005 0.0014 . 0.003 0.021 ENSG00000183397:ENST00000329493:exon3:c.G367A:p.V123I C19orf71:uc010xhm.2:exon3:c.G367A:p.V123I C19orf71:NM_001135580:exon3:c.G367A:p.V123I . . 0.6 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.187 . . 20.0 . . . 0.0007 0.0044 0.006 0.0007 0.0044 0.006 . -2.1950 -2.220 -2.195 c . . . . . 7.805e-03 . . . 0 0.0139 0.0071 0 0 0.0092 0.0123 0.0230 0 0.0161 0.0101 0 0 0.0104 0.0179 0.0231 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.262 . . exonic exonic exonic . . 0.007 0.0050 . . . 0.32 0.26 182 ENSG00000183397 C19orf71 C19orf71 . . . 1.000 0.747 . 186 0.0028626 64976 165 0.00275064 59986 Likely_benign . 0 . 0.062 . . . . . . . . . 37 . 0.040 . . 0.254 . . . 0.011 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.066 . . 0 0 0 0 0 0 . 0.102 . . 0.063 . . . . . . 2 0.010 . . . . . 0.377 . 0.059 . HET 1 rs201749907 0.022 0.014 . . . . . . . . . . IX.42 0.001425 ENST00000329493 IV.41 -8.83 . 1.000000 A6NCJ1 . . . 0.004380 . 0.059 . . . 0.0003 0.0070 0.0020 0.0249 9.864e-05 0.0009 0.0048 0.0059 0.0194 0.0009 0.0049 0.0024 0.0199 0.0006 0.0003 0.0087 0.0051 . . 0.495 . -2.771 -2.771000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.148 . 0.013 . 0.031 -2.771 0.091 0.022 . . rs201749907 rs201749907 1 1538 10 1/0 0,255,255 +rs117941683 19 3771069 G A - RAX2 18286 Retina and anterior neural fold homeobox 2 NM_001319074.1 -1 2414 693 NP_001306003.1 substitution intron GRCh37 3771069 3771069 Chr19(GRCh37):g.3771069G>A 355-112 355-112 NM_001319074.1:c.355-112C>T p.? p.? 3 2 610362 -112 3' 83.3919 XI.88 0.974204 13.8058 83.3919 XI.88 0.974204 13.8058 0 rs117941683 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.001500 0.000000 0.001000 0.002000 0.001400 0.001167 0.000576 0.001199 0.006623 0.000000 0.000000 0.001606 0.000859 0.001022 0.006623 36 5 1 2 0 0 24 3 1 30856 8682 834 302 1622 0 14946 3492 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 5 1 2 0 0 24 3 1 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 -0.440 255 PASS 0.0041 0.0018 0.0028 . 0.0013 0.0015 0.0012 0.0014 0.001 0.002 . . . . . . 0.46875 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . -0.2040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . 0.0012 . . . 0.34 0.34 182 ENSG00000173976 RAX2 MIR1268A . . . . . . 92 0.00141591 64976 89 0.00148368 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs117941683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0012 0.0012 0.0066 0 0.0009 0.0016 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0041 . . rs117941683 rs117941683 1 1538 10 1/0 0,255,255 +rs200172309 19 3920737 C T - ATCAY 779 Ataxia, cerebellar, Cayman type NM_033064.4 1 5036 1116 NP_149053.1 Q86WG3 substitution intron GRCh37 3920737 3920737 Chr19(GRCh37):g.3920737C>T 1074-27 1074-27 NM_033064.4:c.1074-27C>T p.? p.? 12 11 608179 -27 3' 87.8541 13.9934 0.992539 X.34 87.8541 13.9934 0.992539 X.52 0 rs200172309 yes no Frequency/1000G 2 C 0.000000 0 0.000091 0.000557 0.000000 0.000000 0.000000 0.000000 0.000066 0.000039 0.000325 0.000557 24 13 0 0 0 0 8 1 2 264706 23352 32110 9722 17610 28360 121714 25676 6162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 13 0 0 0 0 8 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8209 3814 12023 1 0 1 0.000121803 0 8.3167e-05 0.000121803 0 8.3167e-05 97 transition C T C>T 0.000 -0.682 255 PASS 0.002 0.0005 . . . . . . . . . . . . . . 0.4117647 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.3967 . . . . . . . . 5.592e-05 . . . 0.0003 8.076e-05 0 0 0 9.82e-05 0 0 0.0001 2.953e-05 0 0 0 3.811e-05 0 0 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.37 0.31 182 ENSG00000167654 ATCAY MIR1268A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200172309 . . . . . . . . . . . . . . . . . . . . . . . 0.000083 . . . . . 0.0004 6.844e-05 0 0 0 4.506e-05 7.497e-05 0.0002 0 0.0008 0.0003 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs200172309 rs200172309 1 1538 10 1/0 0,255,255 +rs370105452 19 3982546 G A - EEF2 3214 Eukaryotic translation elongation factor 2 NM_001961.3 -1 3158 2577 NP_001952.1 P13639 substitution intron GRCh37 3982546 3982546 Chr19(GRCh37):g.3982546G>A 613-124 613-124 NM_001961.3:c.613-124C>T p.? p.? 5 4 130610 -124 3' 83.7093 10.1759 0.891432 IX.98 83.7093 10.1759 0.891432 IX.98 0 Cryptic Acceptor Weakly Activated 3982534 5.86711 0.667407 80.7694 5.65926 0.762401 84.0841 rs370105452 yes no Frequency 1 G 0.000000 0 0.000170 0.000000 0.000089 0.000000 0.000000 0.000000 0.000292 0.000219 0.000325 0.000292 44 0 3 0 0 0 35 4 2 259004 22898 33634 9576 18526 30094 119838 18278 6160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 0 3 0 0 0 35 4 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3981 1752 5733 1 0 1 0.00025113 0 0.000174398 0.00025113 0 0.000174398 42 transition C T C>T 1.000 1.497 255 PASS . . . . . . . . . . . . . . . . 0.46206897 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 145.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.35 . . . . . . . . 1.114e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.51 0.3 182 ENSG00000206775 SNORD37 SNORD37 . . . . . . 10 0.000153903 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs370105452 . . . . . . . . . . . . . . . . . . . . . . . 0.000174 . . . . III.83 0 0.0002 9.147e-05 0 0 0.0001 0.0003 0.0004 0 0 0.0002 0 0 0 0.0006 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs370105452 rs370105452 1 1538 10 1/0 0,243,255 +rs370105452 19 3982546 G A - SNORD37 10166 Small nucleolar RNA, C/D box 37 NR_002602.1 -1 66 0 substitution exon GRCh37 3982546 3982546 Chr19(GRCh37):g.3982546G>A 25 25 NR_002602.1:n.25C>T 1 rs370105452 yes no Frequency 1 G 0.000000 0 0.000170 0.000000 0.000089 0.000000 0.000000 0.000000 0.000292 0.000219 0.000325 0.000292 44 0 3 0 0 0 35 4 2 259004 22898 33634 9576 18526 30094 119838 18278 6160 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 44 0 3 0 0 0 35 4 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3981 1752 5733 1 0 1 0.00025113 0 0.000174398 0.00025113 0 0.000174398 42 transition C T C>T 1.000 1.497 255 PASS . . . . . . . . . . . . . . . . 0.46206897 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 145.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.35 . . . . . . . . 1.114e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.51 0.3 182 ENSG00000206775 SNORD37 SNORD37 . . . . . . 10 0.000153903 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs370105452 . . . . . . . . . . . . . . . . . . . . . . . 0.000174 . . . . III.83 0 0.0002 9.147e-05 0 0 0.0001 0.0003 0.0004 0 0 0.0002 0 0 0 0.0006 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0003 . . rs370105452 rs370105452 1 1538 10 1/0 0,243,255 +rs78015843 19 4261962 C T - CCDC94 25518 Coiled-coil domain containing 94 NM_018074.4 1 1397 972 NP_060544.2 Q9BW85 substitution intron GRCh37 4261962 4261962 Chr19(GRCh37):g.4261962C>T 588-29 588-29 NM_018074.4:c.588-29C>T p.? p.? 6 5 -29 3' 84.9708 XI.97 0.963305 8.19815 84.9708 XI.97 0.963305 8.51118 0 rs78015843 yes no Frequency/1000G 2 C 0.000000 0 0.003994 0.000000 0.005100 0.000000 0.010900 0.005800 0.009306 0.002261 0.009046 0.013201 0.000000 0.003234 0.014073 0.004489 0.012736 0.014073 2528 54 307 129 0 98 1750 109 81 271650 23888 33938 9772 18754 30304 124350 24284 6360 0.000169 0.000000 0.000118 0.000819 0.000000 0.000000 0.000257 0.000000 0.000314 23 0 2 4 0 0 16 0 1 2482 54 303 121 0 98 1718 109 79 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8466 4399 12865 134 7 141 0.0155814 0.00158874 0.0108412 0.0155814 0.00158874 0.0108412 69 transition C T C>T 0.000 -1.247 255 PASS . 0.0046 0.01 . 0.01 . 0.004 0.0058 . 0.011 0.0051 . . . . . 0.47761193 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . INTRON(MODIFIER||||CCDC94|mRNA|CODING|NM_018074|) 0.0016 0.011 0.016 0.0016 0.011 0.016 . -0.3525 . . . . . . . . 9.274e-03 . . . 0.0027 0.0097 0.0093 0 0.0034 0.0157 0.0103 0.0038 0.0025 0.0091 0.0092 0 0.0035 0.0136 0.0104 0.0038 . . . . . . intronic intronic intronic . . . 0.0040 . . . 0.4 0.15 182 ENSG00000105248 CCDC94 CCDC94 . . . . . . 840 0.0129279 64976 821 0.0136865 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78015843 0.011 0.022 . . . . . . . . . . . . . . . . . . . . . 0.010841 . . . . . 0.0018 0.0094 0.0089 0.0133 0 0.0044 0.0142 0.0132 0.0032 0.0031 0.0087 0.0155 0.0099 0 0.0049 0.0134 0.0102 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.016 . . rs78015843 rs78015843 1 1538 10 1/0 0,255,255 +rs73527729 19 4556051 C G - SEMA6B 10739 Sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B NM_032108.3 -1 3942 2667 NP_115484.2 Q9H3T3 substitution synonymous exon GRCh37 4556051 4556051 Chr19(GRCh37):g.4556051C>G 420 420 NM_032108.3:c.420G>C p.Thr140= p.Thr140Thr 6 608873 51 3' 81.8537 8.95159 0.93052 6.73887 81.8537 8.95159 0.93052 6.46314 0 Semaphorin/CD100 antigen rs73527729 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.000000 0.001000 0.005000 0.000000 0.000776 0.000250 0.000320 0.000690 0.000053 0.000065 0.001310 0.000504 0.001391 0.001310 215 6 11 7 1 2 166 13 9 277198 24032 34418 10150 18870 30782 126690 25788 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 215 6 11 7 1 2 166 13 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4595078 Upper aerodigestive tract 0.000804 1244 transversion G C G>C 0.976 -0.279 T Thr ACG 0.116 T Thr ACC 0.361 140 255 PASS . . . . . . 0.0012 . 0.001 0.005 . . . SEMA6B:NM_032108:exon6:c.G420C:p.T140T . . 0.45318353 . . @ 121 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 267.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acC|T140|SEMA6B|mRNA|CODING|NM_032108|NM_032108.ex.6) . . . . . . . I.34 . . . . . . . . 7.893e-04 . . . 0.0002 0.0007 0.0003 0.0002 0.0005 0.0013 0 0.0001 0.0001 0.0007 0.0003 0.0001 0.0009 0.0012 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0026 . . . 0.41 0.47 182 ENSG00000167680 SEMA6B SEMA6B . . . . . . 59 0.000908028 64976 53 0.000883539 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73527729 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0008 0.0003 0.0007 5.798e-05 0.0005 0.0014 0.0015 6.497e-05 0.0001 0.0006 0 0 0 0.0006 0.0009 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs73527729 rs73527729 1 1538 10 1/0 0,213,233 +rs2620836 (chr19:5135392 A/G) 19 5135392 A G Transcript NM_015015.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KDM4B +rs111244309 19 5787205 G C - DUS3L 26920 Dihydrouridine synthase 3-like (S. cerevisiae) NM_020175.2 -1 2113 1953 NP_064560.2 Q96G46 substitution intron GRCh37 5787205 5787205 Chr19(GRCh37):g.5787205G>C 1279-23 1279-23 NM_020175.2:c.1279-23C>G p.? p.? 8 7 -23 3' 75.5622 8.74804 0.641429 XI.55 75.5622 8.74804 0.641429 XI.29 0 rs111244309 yes no Frequency 1 G 0.000000 0 transversion C G C>G 0.000 -0.440 191 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . -0.1371 . . . . . . . . 1.608e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.13 182 ENSG00000141994 DUS3L DUS3L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111244309 0.065 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.065 . . rs111244309 rs111244309 1 1538 10 1/0 0,205,255 +rs28420751 19 5787214 T C - DUS3L 26920 Dihydrouridine synthase 3-like (S. cerevisiae) NM_020175.2 -1 2113 1953 NP_064560.2 Q96G46 substitution intron GRCh37 5787214 5787214 Chr19(GRCh37):g.5787214T>C 1279-32 1279-32 NM_020175.2:c.1279-32A>G p.? p.? 8 7 -32 3' 75.5622 8.74804 0.641429 XI.55 75.5622 8.74804 0.641429 XI.39 0 rs28420751 no no 0 T 0.000000 0 transition A G A>G 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.33766234 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . -0.0940 . . . . . . . . . . . . 0 0.0318 0.25 0.05 . 0.0490 . 0 0 0.0472 0.25 0.0455 0.25 0.0778 . 0 . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.13 182 ENSG00000141994 DUS3L DUS3L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28420751 0.033 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs28420751 rs28420751 rs28420751 rs28420751 1 1538 10 1/0 0,227,255 +rs28427521 19 5787215 G A - DUS3L 26920 Dihydrouridine synthase 3-like (S. cerevisiae) NM_020175.2 -1 2113 1953 NP_064560.2 Q96G46 substitution intron GRCh37 5787215 5787215 Chr19(GRCh37):g.5787215G>A 1279-33 1279-33 NM_020175.2:c.1279-33C>T p.? p.? 8 7 -33 3' 75.5622 8.74804 0.641429 XI.55 75.5622 8.74804 0.641429 XI.12 0 rs28427521 no no 0 G 0.000000 0 transition C T C>T 0.000 1.820 204 PASS . . . . . . . . . . . . . . . . 0.17032968 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 182.0 . . . . . . . . . . 0.2237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.2 182 ENSG00000141994 DUS3L DUS3L . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28427521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . rs28427521 rs28427521 rs28427521 rs28427521 1 1538 10 1/0 0,206,255 +rs367895137 19 5788149 G A - DUS3L 26920 Dihydrouridine synthase 3-like (S. cerevisiae) NM_020175.2 -1 2113 1953 NP_064560.2 Q96G46 substitution synonymous exon GRCh37 5788149 5788149 Chr19(GRCh37):g.5788149G>A 981 981 NM_020175.2:c.981C>T p.Phe327= p.Phe327Phe 5 39 3' 77.2566 XI.31 0.410656 13.0453 77.2566 XI.31 0.410656 XII.45 0 tRNA-dihydrouridine synthase rs367895137 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000296 0.000042 0.000494 0.000000 0.000000 0.001462 0.000135 0.000000 0.000310 0.001462 82 1 17 0 0 45 17 0 2 276664 23982 34406 10144 18848 30776 126358 25702 6448 0.000007 0.000000 0.000000 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 80 1 17 0 0 43 17 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.882 -0.682 F Phe TTC 0.546 F Phe TTT 0.454 327 255 PASS . . . . . . 0.0006 0.0014 . 0.002 . . . . . . 0.43965518 . . @ 51 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 116.0 . . . . . . . . . . 0.3298 . . . . . . . . 3.631e-04 . . . 0 0.0004 0.0002 0 0 0.0002 0 0.0019 0 0.0004 0.0002 0 0 0.0002 0 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0006 . . . . . . ENSG00000141994 DUS3L DUS3L . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367895137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0005 0 0 0 0.0001 0.0004 0.0015 0.0001 9.7e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs367895137 rs367895137 1 1538 10 1/0 0,249,255 +rs151218854 19 5843844 T G - FUT3 4014 Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) NM_000149.3 -1 2590 1086 NP_000140.1 P21217 substitution missense exon GRCh37 5843844 5843844 Chr19(GRCh37):g.5843844T>G 1007 1007 NM_000149.3:c.1007A>C p.Asp336Ala p.Asp336Ala 3 111100 1019 3' 85.9157 XI.87 0.992449 14.4147 85.9157 XI.87 0.992449 14.4147 0 Cryptic Acceptor Strongly Activated 5843833 0.026851 74.2336 0.451651 0.157734 76.5678 Glycosyl transferase, family 10 rs151218854 yes no Frequency/1000G 2 T 0.000000 0 0.010583 0.033300 0.001000 0.004000 0.002000 0.002900 0.000705 0.003865 0.000787 0.000000 0.000213 0.000357 0.000491 0.000039 0.000310 0.003865 194 87 27 0 4 11 62 1 2 275024 22512 34326 10150 18798 30780 126248 25764 6446 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 192 87 25 0 4 11 62 1 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5482662|COSM5482662|COSM5482662 Thyroid|Large intestine|Breast 0.002677|0.000448|0.000407 747|2231|2454 transversion A C A>C 0.000 -0.521 D Asp GAT 0.461 A Ala GCT 0.263 336 22 6 Cape rock hyrax -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 268.67 0.00 Tolerated 0.4 II.73 good 3,62E-01 5 179 PASS . . . . . 0.033 0.011 0.0029 0.004 0.002 0.001 . . . . . 0.11023622 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.131 . . 127.0 . . . . . . . . . . -1.4598 -1.498 -1.460 c . . . . . 2.620e-03 . . . 0.0242 0.0032 0.0011 0.0002 0 0.0006 0 0.0004 0.0234 0.0024 0.0011 0.0001 0 0.0004 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.247 . . exonic exonic exonic . . 0.032 0.0106 . . . 0.25 0.42 182 ENSG00000171124 FUT3 FUT3 . . . 0.000 0.056 . . . . . . . Likely_benign . 0 . 0.008 . . . . . . . . . 37 . 0.091 . . 0.170 . . . 0.015 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.048 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 0 0.047 . . . . . 0.074 . 0.130 . LowAF 0.29 rs151218854 . . . . . . . . . . . . III.42 0.010701 . II.29 -4.57 . 0.540000 . . . . . . 0.066 . . . 0.0042 0.0006 0.0008 0 0.0002 4.485e-05 0.0005 0.0002 0.0004 0.0033 0.0013 0 0 0.0006 0 0.0007 0.0010 . . 0.059 . -0.855 -0.855000 . . 0.540000 . . 1.0E-179 0.000 0.063 . 0.104 0.044 . 0.136 . 0.006 -0.855 -0.913 . . . rs151218854 rs151218854 1 1538 10 1/0 0,217,255 +rs202135042 19 6743626 C G - TRIP10 12304 Thyroid hormone receptor interactor 10 NM_001288962.1 1 2201 1806 NP_001275891.1 Q15642 substitution intron GRCh37 6743626 6743626 Chr19(GRCh37):g.6743626C>G 513+17 513+17 NM_001288962.1:c.513+17C>G p.? p.? 6 6 604504 17 5' 85.1573 6.63725 0.880536 XII.44 85.1573 6.63725 0.880536 13.5796 0 rs755807919 yes no Frequency 1 0.000000 0 0.005312 0.004017 0.006757 0.018868 0.000000 0.000000 0.006477 0.006329 0.000000 0.018868 49 13 2 2 0 0 26 6 0 9224 3236 296 106 360 0 4014 948 264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 6 2 1 0 0 22 5 0 0 0 0 0 0 0 0 0 0 RF 99 Genomes transversion C G C>G 0.000 -2.619 183 PASS . . . . . . . . . . . . . . . . 0.12068965 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.5461 . . . . . . . . . . . . 0.0002 0.0002 0 0 0 0.0004 0 0.0001 0.0002 0.0004 0 0 0 0.0007 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000125733 TRIP10 TRIP10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0053 0.0068 0.0189 0 0.0063 0.0065 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs879720171 19 7032648 G A - MBD3L5 37204 Methyl-CpG binding domain protein 3-like 5 NM_001136507.1 1 773 627 NP_001129979.1 A6NJ08 substitution missense exon GRCh37 7032648 7032648 Chr19(GRCh37):g.7032648G>A 370 370 NM_001136507.1:c.370G>A p.Gly124Ser p.Gly124Ser 2 325 3' 87.7812 7.10505 0.848674 11.1701 87.7812 7.10505 0.848674 11.1701 0 rs879720171 no no 0 0.000000 0 0.004307 0.002773 0.001579 0.007092 0.000743 0.035443 0.000982 0.000938 0.001706 0.035443 81 3 7 4 1 56 8 1 1 18806 1082 4432 564 1346 1580 8150 1066 586 0.002978 0.000000 0.000451 0.003546 0.000000 0.031646 0.000245 0.000000 0.000000 28 0 1 1 0 25 1 0 0 24 3 5 2 1 6 5 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 1.255 G Gly GGT 0.162 S Ser AGT 0.149 124 14 7 Alpaca 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 249.84 0.00 Tolerated 0.67 II.79 111 PASS . . . . . . . . . . . ENSG00000237247:ENST00000329753:exon2:c.G370A:p.G124S MBD3L5:uc010xjl.2:exon2:c.G370A:p.G124S MBD3L5:NM_001136507:exon2:c.G370A:p.G124S . . 1.0 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.158 . . 18.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G124S|MBD3L5|mRNA|CODING|NM_001136507|NM_001136507.ex.2) . . . . . . . -0.6702 -0.849 -0.670 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.229 @ . . . . . . ENSG00000237247 MBD3L5 MBD3L5 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.030 0.002 . . 37 . 0.264 . . 0.273 . . . 0.404 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.334 . . 0 0 0 0 0 0 . 0.443 . . 0.296 . . . . . . 0 0.076 . . . . . 0.229 . 0.103 . HOM 0.5 . . . . . . . ID\x3dCOSM3933232\x3bOCCURENCE\x3d1(urinary_tract) . . . . . VI.71 . . I.65 I.65 . 0.550000 A6NJ08 . . . . . 0.027 . . . 0.0022 0.0047 0.0016 0.0074 0.0008 0 0.0010 0.0021 0.0354 0.0053 0.0014 0 0 0 0.0014 0.0010 0 . . 0.133 . 1.261 1.261000 . . 0.550000 . . 1.0E-111 0.000 0.063 . 0.043 0.003 . 0.089 . 0.277 1.261 0.368 . rs3745555 rs3745555 rs3745555 rs3745555 1 1538 255 1.I 0,0,255 +. 19 7038089 A C - MBD3L4 37206 Methyl-CpG binding domain protein 3-like 4 NM_001164419.1 -1 773 627 NP_001157891.1 A6NDZ8 substitution missense exon GRCh37 7038089 7038089 Chr19(GRCh37):g.7038089A>C 410 410 NM_001164419.1:c.410T>G p.Ile137Ser p.Ile137Ser 2 365 3' 87.7812 7.10505 0.848674 11.0357 87.7812 7.10505 0.848674 11.0357 0 0.000416 0.003030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003030 1 1 0 0 0 0 0 0 0 2402 330 114 18 54 14 1288 492 92 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -1.812 I Ile ATC 0.481 S Ser AGC 0.243 137 15 1 -2 -2 -4 0 I.42 5.II 9.II 111 32 142 C0 159.86 0.00 Tolerated 0.81 II.77 111 PASS . . . . . . . . . . . ENSG00000205718:ENST00000381394:exon2:c.T410G:p.I137S MBD3L4:uc021unr.1:exon2:c.T410G:p.I137S MBD3L4:NM_001164419:exon2:c.T410G:p.I137S . . 1.0 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.026 . . 5.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I137S|MBD3L4|mRNA|CODING|NM_001164419|NM_001164419.ex.2) . . . . . . . -1.6900 -1.818 -1.690 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.101 @ . . . . . . ENSG00000205718 MBD3L4 MBD3L4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.033 . . . . D 0.803 0.121 . . 37 . 0.067 . . 0.174 . . . 0.004 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.007 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.010 . . . . . . . 0.037 . HOM 0.69 . . . . . . . . . . . . . . . ENST00000381394 0.426 -0.852 . 1.000000 . . . . . . 0.003 . . . . 0 0 . 0 . 0 0 0 0.0030 0.0004 0 0 0 0 0 0 . . 0.133 . -1.872 -1.872000 . . 1.000000 . . 1.0E-111 0.000 0.063 . 0.043 0.001 . 0.037 . 0.104 -1.872 -1.756 . rs2434949 rs2434949 rs2434949 rs2434949 1 1538 255 1.I 0,0,255 +rs758476626 19 7056567 A G - MBD3L3 37205 Methyl-CpG binding domain protein 3-like 3 NM_001164425.1 -1 773 627 NP_001157897.1 A6NE82 substitution synonymous exon GRCh37 7056567 7056567 Chr19(GRCh37):g.7056567A>G 393 393 NM_001164425.1:c.393T>C p.Gly131= p.Gly131Gly 2 348 3' 87.7812 7.10505 0.848674 11.0357 87.7812 7.10505 0.848674 11.0357 0 rs758476626 yes no Frequency 1 0.000000 0 0.000016 0.000000 0.000090 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000090 4 0 3 0 0 0 1 0 0 244700 15002 33486 9808 17184 30712 110788 22284 5436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 3 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 138 Exomes transition T C T>C 0.000 -2.377 G Gly GGT 0.162 G Gly GGC 0.342 131 255 PASS . . . . . . . . . . . ENSG00000182315:ENST00000333843:exon2:c.T393C:p.G131G MBD3L3:uc021uns.1:exon2:c.T393C:p.G131G MBD3L3:NM_001164425:exon2:c.T393C:p.G131G . . 0.5 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.7468 . . . . . . . . 7.985e-06 . . . 0 1.175e-05 0 0 0 2.521e-05 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000182315 MBD3L3 MBD3L3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs758476626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.635e-05 8.959e-05 0 0 0 9.026e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs141309384 19 7710134 C T - STXBP2 11445 Syntaxin binding protein 2 NM_001272034.1 1 1928 1815 NP_001258963.1 substitution missense exon GRCh37 7710134 7710134 Chr19(GRCh37):g.7710134C>T 1331 1331 NM_001272034.1:c.1331C>T p.Ala444Val p.Ala444Val 15 601717 52 3' 84.429 XI.04 0.972211 XI.64 84.429 XI.04 0.972211 XI.03 0 Cryptic Donor Strongly Activated 7710132 57.2002 4.29111 0.564335 66.9222 Sec1-like protein rs141309384 yes no Frequency/1000G 2 C 0.000000 0 0.005791 0.001500 0.002000 0.000000 0.014900 0.014400 0.008102 0.001593 0.009397 0.003487 0.000063 0.006016 0.012284 0.002282 0.011922 0.012284 1823 31 282 32 1 156 1208 47 66 225006 19458 30008 9176 15964 25932 98340 20592 5536 0.000098 0.000000 0.000133 0.000000 0.000000 0.000231 0.000122 0.000000 0.000000 11 0 2 0 0 3 6 0 0 1801 31 278 32 1 150 1196 47 66 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8474 4382 12856 104 6 110 0.012124 0.00136737 0.00848373 0.012124 0.00136737 0.00848373 28 RCV000174911.2 germline|germline|germline|germline clinical testing|clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity 1 not specified CM1213192 Haemophagocytic lymphohistiocytosis type 5 22791290 DM? transition C T C>T 0.913 1.013 A Ala GCG 0.107 V Val GTG 0.468 444 12 4 C. elegans 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 172.08 35.60 Tolerated 0.28 3.X 255 PASS 0.0041 0.01 0.02 . 0.01 0.0015 0.0058 0.014 . 0.015 0.002 . . . . . 0.4390244 . . germline 36 . . 1.2.2016 0 0 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.282 . Conflicting//\@interpretations//\@of//\@pathogenicity other RCV000174911.2 not_specified MedGen CN169374 1 0.197 . . 82.0 . . . 0.0014 0.0085 0.012 0.0014 0.0085 0.012 . -0.7941 -0.742 -0.794 c . . . . . 6.194e-03 . . . 0.0017 0.0146 0.0267 0 0.0177 0.0227 0.02 0.0082 0.0018 0.0160 0.0286 0 0.0186 0.0274 0.0114 0.0081 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.772 . . exonic exonic exonic . . 0.340 0.0058 . . . 0.19 0.25 182 ENSG00000076944 STXBP2 STXBP2 . . . 1.000 0.747 . 860 0.0132357 64976 833 0.0138866 59986 Likely_benign . 0 . 0.098 . . . . . . . . . 37 . 0.480 . . 0.469 . . . 0.214 0.265 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.354 . . 0 0 0 0 1 0 . 0.195 . . 0.201 . . . . . . 0 0.138 . . . . . 0.131 . 0.141 . HET 0.33 rs141309384 . . . . . . . 0.008241758241758242 0.0040650406504065045 0.016574585635359115 0.0 0.013192612137203167 IV.46 0.001883 . 4.VIII 3.IV . 0.310000 . . . . 0.008484 . 0.255 . . 3.IV 0.0016 0.0083 0.0095 0.0035 6.973e-05 0.0020 0.0125 0.0125 0.0060 0.0016 0.0068 0.0060 0.0033 0 0.0034 0.0113 0.0092 . . 0.413 . 0.936 0.936000 . . 0.310000 . . 1.0E-255 0.000 0.063 . 0.281 0.978 . 0.299 . 0.362 0.936 0.871 0.02 . . rs141309384 rs141309384 1 1538 10 1/0 0,255,255 +. (chr19:7935547 T/A) 19 7935547 T A Not on a known gene +rs774524340 19 7974990 G A - MAP2K7 6847 Mitogen-activated protein kinase kinase 7 NM_001297555.1 1 3525 1308 NP_001284484.1 substitution synonymous exon GRCh37 7974990 7974990 Chr19(GRCh37):g.7974990G>A 357 357 NM_001297555.1:c.357G>A p.Thr119= p.Thr119Thr 4 603014 -25 5' 71.1898 7.87896 0.802184 XI.54 71.1898 7.87896 0.802184 XI.31 0 rs774524340 yes no Frequency 1 G 0.000000 0 0.000017 0.000070 0.000000 0.000000 0.000060 0.000034 0.000009 0.000000 0.000000 0.000070 4 1 0 0 1 1 1 0 0 234996 14228 31614 9350 16728 29774 106642 21460 5200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 50 Exomes COSM5569047 Prostate 0.000549 1822 transition G A G>A 0.228 -1.893 T Thr ACG 0.116 T Thr ACA 0.280 119 255 PASS . . . . . . . . . . . . . . . . 0.42857143 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 105.0 . . . . . . . . . . 0.5316 . . . . . . . . 2.400e-05 . . . 0.0002 4.696e-05 0 0.0002 0 0 0 7.964e-05 0.0002 4.191e-05 0 0.0002 0 0 0 8.003e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000076984 MAP2K7 MAP2K7 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs774524340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.028e-05 1.702e-05 0 0 5.978e-05 0 9.377e-06 0 3.359e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs151062338 19 8200976 G A - FBN3 18794 Fibrillin 3 NM_001321431.1 -1 9087 8430 NP_001308360.1 Q75N90 substitution intron GRCh37 8200976 8200976 Chr19(GRCh37):g.8200976G>A 1466-6 1466-6 NM_001321431.1:c.1466-6C>T p.? p.? 13 12 608529 -6 3' 81.8298 13.5903 0.957853 16.8026 83.933 XI.78 0.958138 15.449 -0.033091 rs151062338 yes no Frequency/1000G 2 G 0.000000 0 0.001997 0.001500 0.002000 0.000000 0.006000 0.000000 0.005780 0.001668 0.004682 0.019486 0.000053 0.003547 0.006299 0.009408 0.008230 0.019486 1597 40 161 197 1 109 794 242 53 276294 23982 34390 10110 18862 30730 126058 25722 6440 0.000058 0.000000 0.000000 0.000198 0.000000 0.000065 0.000032 0.000311 0.000000 8 0 0 1 0 1 2 4 0 1581 40 161 195 1 107 790 234 53 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4398 12941 57 8 65 0.00662791 0.00181571 0.00499769 0.00662791 0.00181571 0.00499769 58 transition C T C>T 0.000 0.851 255 PASS 0.002 0.0032 . . 0.01 0.0015 0.002 . . 0.006 0.002 . . . . . 0.44537815 . . @ 106 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 238.0 . . INTRON(MODIFIER||||FBN3|mRNA|CODING|NM_032447|) 0.0018 0.005 0.0066 0.0018 0.005 0.0066 . 0.5592 . . . . . . . . 5.501e-03 . . . 0.0018 0.0059 0.0042 0 0.0114 0.0087 0.0072 0.0029 0.0019 0.0051 0.0042 0 0.0107 0.0065 0.0060 0.0029 . . . . . . intronic intronic intronic . . . 0.0020 . . . 0.37 0.42 182 ENSG00000142449 FBN3 FBN3 . . . . . . 391 0.00601761 64976 381 0.00635148 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151062338 . . . . . . . . . . . . . . . . . . . . 0 0.044 . 0.004998 . . . . 3.XII 0.0018 0.0058 0.0047 0.0196 0 0.0093 0.0063 0.0077 0.0035 0.0015 0.0053 0.0048 0.0166 0.0006 0.0100 0.0064 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs151062338 rs151062338 1 1538 10 1/0 0,215,231 +rs61729623 19 8203392 G C - FBN3 18794 Fibrillin 3 NM_001321431.1 -1 9087 8430 NP_001308360.1 Q75N90 substitution missense exon GRCh37 8203392 8203392 Chr19(GRCh37):g.8203392G>C 922 922 NM_001321431.1:c.922C>G p.Leu308Val p.Leu308Val 9 608529 57 3' 88.3733 X.73 0.954833 X.91 88.3733 X.73 0.954833 X.23 0 rs61729623 yes no Frequency/1000G 2 G 0.000000 0 0.002796 0.001500 0.003100 0.000000 0.008000 0.001400 0.007870 0.001733 0.006467 0.019590 0.000053 0.004394 0.010043 0.009685 0.010675 0.019590 2135 41 222 197 1 135 1234 237 68 271290 23662 34328 10056 18802 30724 122876 24472 6370 0.000125 0.000000 0.000117 0.000199 0.000000 0.000065 0.000163 0.000245 0.000000 17 0 2 1 0 1 10 3 0 2101 41 218 195 1 133 1214 231 68 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8510 4393 12903 90 9 99 0.0104651 0.00204453 0.00761421 0.0104651 0.00204453 0.00761421 25 transversion C G C>G 0.953 1.174 L Leu CTC 0.197 V Val GTC 0.240 308 12 8 Tetraodon 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Deleterious 0 IV.32 255 PASS 0.002 0.0041 0.0028 . 0.01 0.0015 0.0028 0.0014 . 0.008 0.0031 . FBN3:uc002mjf.3:exon8:c.C922G:p.L308V FBN3:NM_032447:exon8:c.C922G:p.L308V . . 0.5652174 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.074 . @ . . . . . 1 0.509 . . 46.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Gtc|L308V|FBN3|mRNA|CODING|NM_032447|NM_032447.ex.8) 0.002 0.0076 0.011 0.002 0.0076 0.011 . -0.6666 -0.733 -0.667 c . . . . . 7.533e-03 . . . 0.0020 0.0081 0.0064 0 0.0123 0.0126 0.0127 0.0038 0.0022 0.0075 0.0063 0 0.0124 0.0104 0.0117 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.948 . . exonic exonic exonic . . 0.234 0.0028 . . . 0.18 0.36 182 ENSG00000142449 FBN3 FBN3 . . . 0.000 0.066 . 536 0.0082492 64976 523 0.0087187 59986 Likely_benign . 0 . 0.457 . . . . . . . . . 37 . 0.869 . . 0.763 . . . 0.440 0.242 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.485 . . 0 0 0 0 0 0 . 0.351 . . 0.300 . . . . . . 0 0.555 . . . . . 0.393 . 0.210 . HET 0.04 rs61729623 . . . . . . . 0.004120879120879121 0.0020325203252032522 0.0027624309392265192 0.0 0.009234828496042216 IX.13 0.00241 ENST00000270509 4.VI I.72 . 0.430000 Q75N90 . . Name\x3dnsv469677 0.007614 . 0.478 . . . 0.0019 0.0079 0.0064 0.0197 0 0.0094 0.0100 0.0098 0.0044 0.0015 0.0076 0.0072 0.0166 0.0006 0.0112 0.0105 0.0153 . . 0.406 . 0.235 0.235000 . . 0.430000 . . 1.0E-255 0.994 0.380 . 0.062 0.533 . 0.417 . 0.121 0.235 0.693 0.011 rs61729623 rs61729623 rs61729623 rs61729623 1 1538 10 1/0 0,255,255 +rs201475294 19 8389377 C T - KANK3 24796 KN motif and ankyrin repeat domains 3 NM_198471.2 -1 2787 2466 NP_940873.2 substitution missense exon GRCh37 8389377 8389377 Chr19(GRCh37):g.8389377C>T 2338 2338 NM_198471.2:c.2338G>A p.Ala780Thr p.Ala780Thr 10 614611 -45 5' 89.8591 9.60237 0.996115 10.1529 89.8591 9.60237 0.996115 9.94075 0 Ankyrin repeat-containing domain rs201475294 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000572 0.000085 0.000176 0.007791 0.000054 0.000000 0.000532 0.000000 0.000472 0.007791 156 2 6 78 1 0 66 0 3 272620 23642 34136 10012 18658 30410 124164 25240 6358 0.000015 0.000000 0.000000 0.000400 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 0 2 0 0 0 0 0 152 2 6 74 1 0 66 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4404 12996 8 0 8 0.000930233 0 0.000615195 0.000930233 0 0.000615195 23 COSM1003513 Endometrium 0.001524 656 transition G A G>A 0.827 2.546 A Ala GCT 0.263 T Thr ACT 0.243 780 13 8 Mouse 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 240.36 8.IX Tolerated 0.27 II.84 good 5.396E-2 0.04679 255 PASS . . . . . . 0.0002 . . 0.001 . . KANK3:uc010dwa.3:exon10:c.G2338A:p.A780T KANK3:NM_198471:exon10:c.G2338A:p.A780T . . 0.42741936 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.519 . @ . . . . . 1 0.638 . . 124.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . -0.5003 -0.509 -0.500 c . . . . . 4.896e-04 . . . 0 0.0007 0.0001 0.0002 0 0.0015 0 0 0 0.0006 0.0001 0.0002 0 0.0011 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.531 . . exonic exonic exonic . . 0.413 0.0002 . . . 0.37 0.44 182 ENSG00000186994 KANK3 KANK3 . . . 1.000 0.747 . 28 0.000430928 64976 27 0.000450105 59986 Uncertain_significance . 0 . . . . . . T 0.459 0.023 . . 37 . 0.283 . . 0.275 . . . 0.181 0.335 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.202 . . 0 0 0 0 0 0 . 0.432 . . 0.390 . . . . . . 1 0.446 . . . . . 0.246 . 0.184 . HET 0.09 rs201475294 . . . . . . . . . . . . 7.1544 0.0 ENST00000330915 IV.72 III.69 . 0.430000 Q6NY19-2 . . . 0.000615 . 0.400 . . III.69 6.702e-05 0.0006 0.0002 0.0078 5.87e-05 0 0.0006 0.0006 0 0.0001 0.0002 0 0.0066 0 0 0.0002 0 . . 0.522 . 1.204 1.204000 . . 0.430000 . . 1.0E-255 0.945 0.326 . 0.209 0.985 . 0.453 . 0.140 1.204 0.871 0.0009 . . rs201475294 rs201475294 1 1538 10 1/0 0,243,255 +. 19 8429306 G C - ANGPTL4 16039 Angiopoietin-like 4 NM_139314.2 1 1905 1221 NP_647475.1 Q9BY76 substitution missense exon GRCh37 8429306 8429306 Chr19(GRCh37):g.8429306G>C 101 101 NM_139314.2:c.101G>C p.Arg34Pro p.Arg34Pro 1 605910 -218 5' 89.2147 X.47 0.990074 13.198 89.2147 X.47 0.990074 13.198 0 transversion G C G>C 0.898 0.851 R Arg CGC 0.190 P Pro CCC 0.328 34 13 6 Cow -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Deleterious 0.03 III.33 255 PASS . . . . . . . . . . . . . . . . 0.45783132 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.552 . @ . . . . . 1 0.457 . . 83.0 . . . . . . . . . . 0.1852 0.099 0.185 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.746 . . exonic exonic exonic . . 0.310 @ . . . . . . ENSG00000167772 ANGPTL4 ANGPTL4 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . D 0.939 0.425 . . 37 . 0.721 . . 0.720 . . . 0.549 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.595 . . 0 0 0 0 0 0 . 0.615 . . 0.528 . . . . . . 0 0.682 . . . . . 0.113 . 0.646 . HET 0.01 . . . . . . . . . . . . . IV.73 . . IV.95 II.72 . 0.000000 . . . . . . 0.367 . . II.72 . . . . . . . . . . . . . . . . . . . 0.477 . 1.083 1.083000 . . 0.000000 . . 1.0E-255 0.998 0.411 . 0.225 0.586 . 0.370 . 0.336 1.083 0.913 . . . . . 1 1538 10 1/0 0,255,255 +rs370365380 19 8431073 C T - ANGPTL4 16039 Angiopoietin-like 4 NM_139314.2 1 1905 1221 NP_647475.1 Q9BY76 substitution intron GRCh37 8431073 8431073 Chr19(GRCh37):g.8431073C>T 430-13 430-13 NM_139314.2:c.430-13C>T p.? p.? 3 2 605910 -13 3' 69.4937 8.11296 0.836568 12.0225 72.6094 8.58213 0.915807 XII.92 0.0657944 Cryptic Acceptor Weakly Activated 8431086 8.11296 0.836568 69.4937 8.58213 0.915807 72.6094 rs370365380 yes no Frequency 1 C 0.000000 0 0.000029 0.000042 0.000029 0.000197 0.000000 0.000000 0.000032 0.000000 0.000000 0.000197 8 1 1 2 0 0 4 0 0 277008 23954 34418 10150 18860 30782 126660 25718 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 2 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 81 transition C T C>T 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.4785276 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 0.0446 . . . . . . . . 3.947e-05 . . . 0 5.519e-05 0 0 0 0.0001 0 0 0 2.826e-05 0 0 0 5.522e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.22 0.27 182 ENSG00000167772 ANGPTL4 ANGPTL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs370365380 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 6.546e-05 2.844e-05 2.978e-05 0.0001 0 0 3.582e-05 0 0 0 3.237e-05 0 0.0033 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs370365380 rs370365380 1 1538 10 1/0 0,237,255 +. 19 8591921 CT C - MYO1F 7600 Myosin IF NM_012335.3 -1 4173 3297 NP_036467.2 O00160 deletion intron GRCh37 8591922 8591922 Chr19(GRCh37):g.8591922del 2475-103 2475-103 NM_012335.3:c.2475-103del p.? p.? 23 22 601480 -103 3' 72.6688 7.0549 0.737063 VI.48 72.6688 7.0549 0.737063 VI.48 0 rs140776818 yes no Frequency/1000G 2 T 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.005000 0.005800 0.003304 0.000574 0.005967 0.000000 0.000000 0.000000 0.004813 0.004014 0.006122 0.005967 102 5 5 0 0 0 72 14 6 30876 8706 838 302 1602 0 14960 3488 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 102 5 5 0 0 0 72 14 6 0 0 0 0 0 0 0 0 0 PASS 40 Genomes A 255 Pass . . . . . . 0.0018 0.0058 . 0.005 . . . . . . 0.53409094 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 88 . . INTRON(MODIFIER||||MYO1F|mRNA|CODING|NM_012335|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000142347 MYO1F MYO1F . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140776818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0033 0.0060 0 0 0.0040 0.0048 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs140776818 rs140776818 1 1538 10 1.I 0,12,27 +. 19 8993230 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 8993230 8993230 Chr19(GRCh37):g.8993230C>T 41716+143 41716+143 NM_024690.2:c.41716+143G>A p.? p.? 66 66 606154 143 5' 81.0413 8.27203 0.960206 7.03995 81.0413 8.27203 0.960206 7.03995 0 transition G A G>A 0.000 1.013 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.0059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs202176847 19 8993231 T A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 8993231 8993231 Chr19(GRCh37):g.8993231T>A 41716+142 41716+142 NM_024690.2:c.41716+142A>T p.? p.? 66 66 606154 142 5' 81.0413 8.27203 0.960206 7.03995 81.0413 8.27203 0.960206 7.03995 0 0.000242 0.001016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001016 4 4 0 0 0 0 0 0 0 16540 3936 282 286 686 0 9688 1166 496 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 94 Genomes transversion A T A>T 0.000 -1.086 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.1849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.28 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0002 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. 19 8997507 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8997507 8997507 Chr19(GRCh37):g.8997507G>A 40915 40915 NM_024690.2:c.40915C>T p.Leu13639Phe p.Leu13639Phe 59 606154 30 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.344357 5.98819 0 SEA domain 0.006998 0.008873 0.014778 0.000000 0.014039 0.000000 0.004290 0.015823 0.005208 0.015823 137 43 6 0 13 0 47 25 3 19578 4846 406 288 926 0 10956 1580 576 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 137 43 6 0 13 0 47 25 3 0 0 0 0 0 0 0 0 0 RF 74 Genomes transition C T C>T 0.039 -0.360 L Leu CTC 0.197 F Phe TTC 0.546 13639 12 5 Cow 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Deleterious 0.02 IV.32 211 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.C40915T:p.L13639F . . 0.18699187 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.246 . @ . . . . . 1 0.656 . . 123.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L13639F|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -0.8814 -1.086 -0.881 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.563 . . exonic exonic exonic . . 0.069 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.500 0.027 . . 37 . 0.573 . . 0.551 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.427 . . 0 0 0 0 0 0 . 0.588 . . 0.715 . . . . . . 0 0.280 . . . . . 0.004 . 0.348 . HET 0.01 . . . . . . . . . . . . . 0.4094 . . II.86 -2.05 . 0.060000 . . . . . . 0.072 . . . . . . . . . . . . 0.0089 0.0070 0.0148 0 0.0140 0.0158 0.0043 0.0052 . . 0.133 . -0.330 -0.330000 . . 0.060000 . . 1.0E-211 0.002 0.151 . 0.215 0.351 . 0.134 . 0.055 -0.330 -0.540 . . . . . 1 1538 10 1/0 0,225,255 +. 19 8997508 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 8997508 8997508 Chr19(GRCh37):g.8997508A>G 40914 40914 NM_024690.2:c.40914T>C p.Thr13638= p.Thr13638Thr 59 606154 29 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.344357 6.51768 0 SEA domain 0.000358 0.000524 0.000000 0.000000 0.000736 0.000000 0.000217 0.000635 0.000000 0.000736 10 4 0 0 1 0 3 2 0 27918 7630 748 298 1358 0 13846 3152 886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 4 0 0 1 0 3 2 0 0 0 0 0 0 0 0 0 0 RF 52 Genomes transition T C T>C 0.000 -1.328 T Thr ACT 0.243 T Thr ACC 0.361 13638 185 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.T40914C:p.T13638T . . 0.12396694 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 121.0 . . SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T13638|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -1.5632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . VI.77 . ENST00000542240 II.86 -5.72 . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0004 0 0 0.0007 0.0006 0.0002 0 . . . . -1.351 -1.351000 . . . . . 1.0E-185 . . . . . . . . . -1.351 . . . . . . 1 1538 10 1/0 0,220,255 +. 19 8997515 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8997515 8997515 Chr19(GRCh37):g.8997515A>G 40907 40907 NM_024690.2:c.40907T>C p.Leu13636Pro p.Leu13636Pro 59 606154 22 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.344357 7.06156 0 SEA domain 0.007650 0.012948 0.014205 0.000000 0.021341 0.000000 0.004049 0.013595 0.003953 0.021341 132 52 5 0 14 0 41 18 2 17256 4016 352 276 656 0 10126 1324 506 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 132 52 5 0 14 0 41 18 2 0 0 0 0 0 0 0 0 0 RF 82 Genomes transition T C T>C 0.000 -0.279 L Leu CTA 0.070 P Pro CCA 0.274 13636 12 1 -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 353.86 0.00 Deleterious 0.04 IV.32 199 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.T40907C:p.L13636P . . 0.15789473 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.066 . @ . . . . . 1 0.101 . . 95.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTa/cCa|L13636P|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -0.8964 -1.106 -0.896 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.334 . . exonic exonic exonic . . 0.077 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.130 0.005 . . 37 . 0.306 . . 0.402 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.013 . . 0 0 0 0 0 0 . 0.657 . . 0.764 . . . . . . 0 0.025 . . . . . 0.194 . 0.206 . HET 0.16 . . . . . . . . . . . . . 6.1512 . ENST00000542240 II.86 -1.69 . 0.420000 . . . . . . 0.004 . . . . . . . . . . . . 0.0129 0.0076 0.0142 0 0.0213 0.0136 0.0040 0.0040 . . 0.133 . -0.266 -0.266000 . . 0.420000 . . 1.0E-199 0.000 0.063 . 0.016 0.002 . 0.058 . 0.062 -0.266 -0.592 . . . . . 1 1538 10 1/0 0,234,255 +rs762059355 19 8997517 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 8997517 8997517 Chr19(GRCh37):g.8997517C>T 40905 40905 NM_024690.2:c.40905G>A p.Val13635= p.Val13635Val 59 606154 20 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.431899 6.59631 0.0847396 Cryptic Donor Strongly Activated 8997520 0.005342 58.6196 3.09734 0.170157 62.982 SEA domain rs762059355 yes no Frequency 1 0.000000 0 0.000381 0.002126 0.000177 0.000000 0.000667 0.000033 0.000253 0.000335 0.000165 0.002126 101 42 6 0 12 1 31 8 1 264756 19756 33900 10108 17998 30746 122336 23866 6046 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 101 42 6 0 12 1 31 8 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 V Val GTG 0.468 V Val GTA 0.114 13635 200 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.G40905A:p.V13635V . . 0.15841584 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V13635|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -1.1691 . . . . . . . . 1.596e-05 . . . 0.0001 2.22e-05 0 0 0 0 0 6.06e-05 0.0001 1.895e-05 0 0 0 0 0 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762059355 . . . . . . . . . . . . 0.5816 . ENST00000542240 II.86 -4.35 . . . . . . . . . . . . 6.541e-05 8.133e-06 0 0 0 0 0 0 3.252e-05 0.0092 0.0053 0.0149 0 0.0157 0.0051 0.0029 0.0017 . . . . -0.861 -0.861000 . . . . . 1.0E-200 . . . . . . . . . -0.861 . . . . . . 1 1538 10 1/0 0,231,255 +. 19 8997519 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8997519 8997519 Chr19(GRCh37):g.8997519C>T 40903 40903 NM_024690.2:c.40903G>A p.Val13635Met p.Val13635Met 59 606154 18 3' 70.4261 6.93622 0.344357 6.71286 70.4261 6.93622 0.171361 6.79789 -0.167458 SEA domain 0.004688 0.008478 0.013333 0.000000 0.015000 0.000000 0.002266 0.004582 0.001656 0.015000 92 40 6 0 12 0 25 8 1 19626 4718 450 276 800 0 11032 1746 604 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 92 40 6 0 12 0 25 8 1 0 0 0 0 0 0 0 0 0 RF 71 Genomes transition G A G>A 0.000 -0.682 V Val GTG 0.468 M Met ATG 1.000 13635 12 5 Cow 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0.01 IV.32 200 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon59:c.G40903A:p.V13635M . . 0.16 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.265 . @ . . . . . 1 0.425 . . 100.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V13635M|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.59) . . . . . . . -1.4948 -1.628 -1.495 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.425 . . exonic exonic exonic . . 0.066 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.306 0.012 . . 37 . 0.147 . . 0.299 . . . 0.027 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.285 . . 0 0 0 0 0 0 . 0.657 . . 0.719 . . . . . . 0 0.144 . . . . . 0.094 . 0.106 . HET 0.13 . . . . . . . . . . . . . 4.0857 . ENST00000542240 II.86 -2.2 . 0.120000 . . . . . . 0.043 . . . . . . . . . . . . 0.0085 0.0047 0.0133 0 0.015 0.0046 0.0023 0.0017 . . 0.133 . -0.664 -0.664000 . . 0.120000 . . 1.0E-200 0.000 0.063 . 0.016 0.000 . 0.062 . 0.012 -0.664 -0.421 . . . . . 1 1538 10 1/0 0,232,255 +rs200071553 19 8999488 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8999488 8999488 Chr19(GRCh37):g.8999488C>T 40687 40687 NM_024690.2:c.40687G>A p.Asp13563Asn p.Asp13563Asn 56 606154 77 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 X.02 0 SEA domain rs200071553 yes no Frequency 1 C 0.000000 0 0.002119 0.000515 0.003137 0.006372 0.000289 0.004077 0.001887 0.000951 0.003423 0.006372 504 11 90 49 5 102 206 22 19 237880 21342 28686 7690 17294 25018 109166 23134 5550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 504 11 90 49 5 102 206 22 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.929 0.448 D Asp GAC 0.539 N Asn AAC 0.536 13563 12 7 Chicken 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.05 IV.32 184 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.G40687A:p.D13563N . . 0.1221865 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.424 . @ . . . . . 1 0.466 . . 311.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D13563N|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -0.3779 -0.450 -0.378 c . . . . . 8.626e-03 . . . 0.0155 0.0083 0.0047 0.0037 0.0008 0.0062 0.0079 0.0164 0.0152 0.0078 0.0045 0.0098 0.0006 0.0055 0.0083 0.0163 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.205 @ . . . 0.35 0.28 182 ENSG00000181143 MUC16 MUC16 . . . 0.000 0.048 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.435 . . 0.495 . . . 0.420 0.198 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.581 . . 0.701 . . . . . . 0 0.227 . . . . . 0.186 . 0.032 . LowAF 0.36 rs200071553 . . . . . . . . . . . . 5.989 . ENST00000542240 III.48 I.27 . 0.120000 . . . . . . 0.345 . . . 0.0006 0.0024 0.0032 0.0066 0.0003 0.0011 0.0021 0.0041 0.0041 0.0004 0.0003 0 0 0.0007 0 0.0002 0 . . 0.246 . 0.307 0.307000 . . 0.120000 . . 9.999999999999999E-185 0.096 0.225 . 0.225 0.524 . 0.170 . 0.070 0.307 0.871 . . . rs200071553 rs200071553 1 1538 10 1/0 0,179,255 +rs77751609 19 8999500 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8999500 8999500 Chr19(GRCh37):g.8999500T>C 40675 40675 NM_024690.2:c.40675A>G p.Ser13559Gly p.Ser13559Gly 56 606154 65 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 X.33 0 New Acceptor Site 8999499 6.95172 0.276382 72.3003 SEA domain rs77751609 yes no Frequency 1 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 237750 15126 31976 9210 16910 29544 108002 21740 5242 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 63 Exomes transition A G A>G 0.000 0.367 S Ser AGC 0.243 G Gly GGC 0.342 13559 12 4 Chicken 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.08 IV.32 176 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.A40675G:p.S13559G . . 0.104477614 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.058 . @ . . . . . 1 0.030 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S13559G|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -1.4433 -1.388 -1.443 c . . . . . 7.992e-06 . . . 0 1.15e-05 0 0 0 2.421e-05 0 0 0 9.758e-06 0 0 0 1.867e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.165 . . exonic exonic exonic . . 0.209 @ . . . 0.35 0.31 182 ENSG00000181143 MUC16 MUC16 . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.086 0.004 . . 37 . 0.048 . . 0.393 . . . 0.001 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.028 . . 0 0 0 0 0 0 . 0.394 . . 0.575 . . . . . . 0 0.069 . . . . . 0.124 . 0.025 . LowAF 0.81 rs77751609 . . . . . . . . . . . . IV.66 . . III.48 I.33 . 1.000000 . . . . . . 0.004 . . . 0 4.206e-06 0 0 0 0 9.259e-06 0 0 . . . . . . . . . . 0.246 . 0.791 0.791000 . . 1.000000 . . 1.0E-176 0.000 0.063 . 0.016 0.001 . 0.050 . 0.166 0.791 -0.068 . . . rs77751609 rs77751609 1 1538 10 1/0 0,196,255 +rs761586719 19 8999502 T G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8999502 8999502 Chr19(GRCh37):g.8999502T>G 40673 40673 NM_024690.2:c.40673A>C p.Lys13558Thr p.Lys13558Thr 56 606154 63 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 11.0147 0 Cryptic Acceptor Strongly Activated 8999483 0.001124 68.2981 0.10638 0.002132 68.2981 SEA domain rs761586719 yes no Frequency 1 T 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 239730 15208 32528 9332 17100 29868 108586 21810 5298 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 62 Exomes transversion A C A>C 0.000 -2.458 K Lys AAA 0.425 T Thr ACA 0.280 13558 12 3 Cow -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 353.86 0.00 Deleterious 0.02 IV.32 177 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.A40673C:p.K13558T . . 0.10714286 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.098 . @ . . . . . 1 0.072 . . 196.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aCa|K13558T|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -1.6751 -1.850 -1.675 c . . . . . 7.985e-06 . . . 0 1.151e-05 0 0 0 2.422e-05 0 0 0 9.767e-06 0 0 0 1.868e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.291 . . exonic exonic exonic . . 0.015 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.454 0.206 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.107 0.004 . . 37 . 0.242 . . 0.153 . . . 0.112 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.536 . . 0.666 . . . . . . 0 0.093 . . . . . 0.253 . 0.081 . LowAF 0.9 rs761586719 . . . . . . . . . . . . VII.24 . . III.48 -6.96 . 0.680000 . . . . . . 0.010 . . . 0 4.171e-06 0 0 0 0 9.209e-06 0 0 . . . . . . . . . . 0.246 . -2.367 -2.367000 . . 0.680000 . . 1.0E-177 0.000 0.063 . 0.016 0.001 . 0.032 . 0.024 -2.367 -0.913 . . . . . 1 1538 10 1/0 0,198,255 +rs765214169 19 8999503 T G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 8999503 8999503 Chr19(GRCh37):g.8999503T>G 40672 40672 NM_024690.2:c.40672A>C p.Lys13558Gln p.Lys13558Gln 56 606154 62 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 X.41 0 Cryptic Acceptor Strongly Activated 8999498 II.59 0.000992 64.2773 3.98423 0.02384 67.1896 SEA domain rs765214169 yes no Frequency 1 T 0.000000 0 0.000102 0.000643 0.000061 0.000000 0.000226 0.000000 0.000034 0.000131 0.000174 0.000643 26 12 2 0 4 0 4 3 1 255272 18672 32744 9554 17736 29820 118128 22864 5754 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 12 2 0 4 0 4 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -1.570 K Lys AAA 0.425 Q Gln CAA 0.256 13558 12 3 Cow 1 1 2 0.33 0.89 11.III 10.V 119 85 53 C0 353.86 0.00 Deleterious 0.03 IV.32 198 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.A40672C:p.K13558Q . . 0.15422885 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.140 . @ . . . . . 1 0.088 . . 201.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K13558Q|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -1.2042 -1.450 -1.204 c . . . . . 3.752e-04 . . . 0.0045 0.0005 8.67e-05 0 0 0 0.0015 0 0.0046 0.0004 8.94e-05 0 0 0 0.0015 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.291 . . exonic exonic exonic . . 0.018 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.031 0.140 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.406 0.018 . . 37 . 0.408 . . 0.512 . . . 0.346 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.146 . . 0 0 0 0 0 0 . 0.536 . . 0.666 . . . . . . 0 0.236 . . . . . 0.540 . 0.106 . HET 0.56 rs765214169 . . . . . . . . . . . . 12.302 . . III.48 -6.28 . 0.540000 . . . . . . 0.060 . . . 0 8.355e-06 3.078e-05 0 0 0 9.222e-06 0 0 0.0034 0.0015 0.0039 0 0.0063 0.0028 0.0003 0.0022 . . 0.246 . -1.535 -1.535000 . . 0.540000 . . 1.0E-198 0.000 0.063 . 0.074 0.007 . 0.006 . 0.658 -1.535 0.991 . . . . . 1 1538 10 1/0 0,201,255 +rs762789675 19 8999504 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 8999504 8999504 Chr19(GRCh37):g.8999504G>A 40671 40671 NM_024690.2:c.40671C>T p.Pro13557= p.Pro13557Pro 56 606154 61 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 10.1088 0 Cryptic Acceptor Strongly Activated 8999498 II.59 0.000992 64.2773 II.46 0.001755 66.3806 SEA domain rs762789675 yes no Frequency 1 G 0.000000 0 0.000092 0.000713 0.000061 0.000000 0.000115 0.000000 0.000035 0.000136 0.000000 0.000713 23 12 2 0 2 0 4 3 0 249754 16832 32614 9558 17412 29868 115838 22072 5560 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 12 2 0 2 0 4 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.844 P Pro CCC 0.328 P Pro CCT 0.283 13557 186 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.C40671T:p.P13557P . . 0.12626262 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 198.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P13557|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -1.1333 . . . . . . . . 3.752e-04 . . . 0.0045 0.0005 8.666e-05 0 0 2.425e-05 0.0015 0 0.0046 0.0004 8.935e-05 0 0 0 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs762789675 . . . . . . . . . . . . II.48 . ENST00000542240 III.48 -4.5 . 0.020000 . . . . . . . . . . 0 8.352e-06 3.078e-05 0 0 0 9.22e-06 0 0 0.0072 0.0020 0.0081 0 0.0067 0.0103 0.0004 0 . . . . -0.665 -0.665000 . . 0.020000 . . 1.0E-186 . . . . . . . . . -0.665 . . . . . . 1 1538 10 1/0 0,199,255 +rs752930664 19 8999507 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 8999507 8999507 Chr19(GRCh37):g.8999507A>G 40668 40668 NM_024690.2:c.40668T>C p.Asp13556= p.Asp13556Asp 56 606154 58 3' 84.8619 9.26701 0.973886 X.59 84.8619 9.26701 0.973886 X.98 0 SEA domain rs752930664 yes no Frequency 1 A 0.000000 0 0.000094 0.000572 0.000061 0.000000 0.000168 0.000034 0.000025 0.000174 0.000000 0.000572 24 11 2 0 3 1 3 4 0 255954 19214 32766 9504 17832 29712 118222 22926 5778 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 11 2 0 3 1 3 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.008 0.125 D Asp GAT 0.461 D Asp GAC 0.539 13556 197 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon56:c.T40668C:p.D13556D . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D13556|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.56) . . . . . . . -0.8260 . . . . . . . . 3.513e-04 . . . 0.0042 0.0005 8.667e-05 0 0 0 0.0015 0 0.0043 0.0004 8.937e-05 0 0 0 0.0015 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . 6.155 . ENST00000542240 III.48 -0.0964 . . . . . . . . . . . . 0 1.675e-05 3.079e-05 0 5.84e-05 0 9.25e-06 0 3.366e-05 0.0027 0.0012 0.0035 0 0.0028 0.0034 0.0002 0 . . . . -0.013 -0.013000 . . . . . 1.0E-197 . . . . . . . . . -0.013 . . . . . . 1 1538 10 1/0 0,203,255 +. 19 9000185 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9000185 9000185 Chr19(GRCh37):g.9000185A>G 40572 40572 NM_024690.2:c.40572T>C p.Val13524= p.Val13524Val 55 606154 30 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990512 14.9704 0 SEA domain 0.001630 0.003268 0.003021 0.000000 0.004244 0.000000 0.000748 0.000738 0.001214 0.004244 42 22 2 0 5 0 10 2 1 25766 6732 662 290 1178 0 13370 2710 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 42 22 2 0 5 0 10 2 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition T C T>C 0.000 -1.005 V Val GTT 0.178 V Val GTC 0.240 13524 255 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.T40572C:p.V13524V . . 0.3442623 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 183.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V13524|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -0.9662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . VI.55 . ENST00000542240 2.IX -5.79 . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0016 0.0030 0 0.0042 0.0007 0.0007 0.0012 . . . . -1.446 -1.446000 . . . . . 1.0E-255 . . . . . . . . . -1.446 . . . . . . 1 1538 10 1/0 0,221,255 +. 19 9000187 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9000187 9000187 Chr19(GRCh37):g.9000187C>T 40570 40570 NM_024690.2:c.40570G>A p.Val13524Ile p.Val13524Ile 55 606154 28 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990512 13.8752 0 SEA domain rs994308141 yes no Frequency 1 0.000000 0 0.001815 0.003492 0.003106 0.000000 0.004401 0.000000 0.000908 0.001130 0.001214 0.004401 46 23 2 0 5 0 12 3 1 25346 6586 644 290 1136 0 13212 2654 824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 23 2 0 5 0 12 3 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition G A G>A 0.000 -0.844 V Val GTT 0.178 I Ile ATT 0.356 13524 12 3 Pig 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 0.08 IV.32 254 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.G40570A:p.V13524I . . 0.3189189 . . @ 59 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.302 . @ . . . . . 1 0.074 . . 185.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V13524I|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -1.0836 -1.286 -1.084 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.031 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.061 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.101 0.004 . . 37 . 0.237 . . 0.354 . . . 0.339 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.102 . . 0 0 0 0 0 0 . 0.466 . . 0.613 . . . . . . 0 0.043 . . . . . 0.010 . 0.134 . HET 0.78 . . . . . . . . . . . . . 0.7772 . . 2.IX -4.61 . 0.830000 . . . . . . 0.009 . . . . . . . . . . . . 0.0035 0.0018 0.0031 0 0.0044 0.0011 0.0009 0.0012 . . 0.246 . -0.690 -0.690000 . . 0.830000 . . 1.0000000000000001E-254 0.000 0.063 . 0.180 0.016 . 0.008 . 0.009 -0.690 -0.523 . . . . . 1 1538 10 1/0 0,218,255 +. 19 9000194 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9000194 9000194 Chr19(GRCh37):g.9000194G>A 40563 40563 NM_024690.2:c.40563C>T p.Asn13521= p.Asn13521Asn 55 606154 21 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990512 13.9971 0 SEA domain 0.002357 0.005561 0.003268 0.000000 0.003559 0.000000 0.000764 0.002268 0.001256 0.005561 59 36 2 0 4 0 10 6 1 25030 6474 612 290 1124 0 13088 2646 796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 36 2 0 4 0 10 6 1 0 0 0 0 0 0 0 0 0 RF 61 Genomes transition C T C>T 0.000 -0.844 N Asn AAC 0.536 N Asn AAT 0.464 13521 255 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.C40563T:p.N13521N . . 0.3556701 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 194.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N13521|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -0.9442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . 3.1249 . ENST00000542240 2.IX -5.79 . . . . . . . . . . . . . . . . . . . . . 0.0056 0.0024 0.0033 0 0.0036 0.0023 0.0008 0.0013 . . . . -0.699 -0.699000 . . . . . 1.0E-255 . . . . . . . . . -0.699 . . . . . . 1 1538 10 1/0 0,220,255 +rs763196876 19 9000205 C A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9000205 9000205 Chr19(GRCh37):g.9000205C>A 40552 40552 NM_024690.2:c.40552G>T p.Val13518Leu p.Val13518Leu 55 606154 10 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.989717 14.123 -0.000267538 Cryptic Acceptor Strongly Activated 9000196 0.186643 0.014444 67.4961 0.405381 0.085917 72.9314 SEA domain 0.007247 0.022633 0.011416 0.000000 0.011364 0.000000 0.002095 0.007431 0.001792 0.022633 125 76 5 0 8 0 21 14 1 17248 3358 438 284 704 0 10022 1884 558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 125 76 5 0 8 0 21 14 1 0 0 0 0 0 0 0 0 0 RF 89 Genomes transversion G T G>T 0.000 -1.732 V Val GTG 0.468 L Leu TTG 0.127 13518 12 1 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.G40552T:p.V13518L . . 0.3736842 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.068 . @ . . . . . 1 0.028 . . 190.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V13518L|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -1.9406 -2.096 -1.941 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.057 . . exonic exonic exonic . . 0.030 @ . . . 0.29 0.25 182 ENSG00000181143 MUC16 MUC16 . . . 0.002 0.087 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.129 0.005 . . 37 . 0.074 . . 0.359 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.015 . . 0 0 0 0 0 0 . 0.329 . . 0.465 . . . . . . 0 0.010 . . . . . 0.008 . 0.098 . HET 1 . . . . . . . . . . . . . 0.6851 . . 2.IX -4.77 . . . . . . . . 0.004 . . . . . . . . . . . . 0.0226 0.0072 0.0114 0 0.0114 0.0074 0.0021 0.0018 . . 0.246 . -2.200 -2.200000 . . . . . 1.0E-255 0.000 0.063 . 0.043 0.003 . 0.015 . 0.003 -2.200 -1.917 . . . . . 1 1538 10 1/0 0,220,248 +. 19 9000206 A G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9000206 9000206 Chr19(GRCh37):g.9000206A>G 40551 40551 NM_024690.2:c.40551T>C p.Pro13517= p.Pro13517Pro 55 606154 9 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990654 14.5834 4.77867e-05 SEA domain 0.008034 0.025213 0.011364 0.000000 0.014493 0.000000 0.002213 0.008108 0.003584 0.025213 137 83 5 0 10 0 22 15 2 17052 3292 440 282 690 0 9940 1850 558 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 137 83 5 0 10 0 22 15 2 0 0 0 0 0 0 0 0 0 RF 90 Genomes transition T C T>C 0.000 -0.763 P Pro CCT 0.283 P Pro CCC 0.328 13517 255 PASS . . . . . . . . . . . . . MUC16:NM_024690:exon55:c.T40551C:p.P13517P . . 0.4300518 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 193.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P13517|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.55) . . . . . . . -1.3950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.22 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . III.78 . ENST00000542240 2.IX -2.34 . . . . . . . . . . . . . . . . . . . . . 0.0252 0.0080 0.0114 0 0.0145 0.0081 0.0022 0.0036 . . . . -0.564 -0.564000 . . . . . 1.0E-255 . . . . . . . . . -0.564 . . rs4994075 rs4994075 rs4994075 rs4994075 1 1538 10 1/0 0,225,250 +rs73003709 19 9000240 G T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9000240 9000240 Chr19(GRCh37):g.9000240G>T 40543-26 40543-26 NM_024690.2:c.40543-26C>A p.? p.? 55 54 606154 -26 3' 78.7809 11.1199 0.990512 14.5686 78.7809 11.1199 0.990512 13.9692 0 9000241 -9.1738 rs73003709 yes no Frequency/1000G 2 0.000000 0 0.000971 0.003501 0.000000 0.000000 0.005208 0.000000 0.000263 0.005236 0.000000 0.005236 10 5 0 0 1 0 2 2 0 10302 1428 150 258 192 0 7614 382 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 5 0 0 1 0 2 2 0 0 0 0 0 0 0 0 0 0 RF 166 Genomes transversion C A C>A 0.000 -0.117 185 PASS . . . . . . . . . . . . . . . . 0.3084577 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 201.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.3335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.4 0.2 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73003709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0010 0 0 0.0052 0.0052 0.0003 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . rs73003709 rs73003709 rs73003709 1 1538 10 1/0 0,219,255 +. 19 9006426 G T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9006426 9006426 Chr19(GRCh37):g.9006426G>T 39607-15 39607-15 NM_024690.2:c.39607-15C>A p.? p.? 45 44 606154 -15 3' 76.9798 X.63 0.948076 10.1567 76.9798 9.23859 0.837802 8.35598 -0.0733041 transversion C A C>A 0.000 0.609 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 207.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.0012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,196,255 +rs200457085 19 9006633 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9006633 9006633 Chr19(GRCh37):g.9006633G>A 39606+9 39606+9 NM_024690.2:c.39606+9C>T p.? p.? 44 44 606154 9 5' 86.16 9.44859 0.982293 8.41444 86.16 9.44859 0.982293 7.99264 0 rs200457085 no no 0 0.000000 0 0.000016 0.000065 0.000000 0.000000 0.000000 0.000000 0.000026 0.000000 0.000000 0.000065 4 1 0 0 0 0 3 0 0 246272 15336 32016 9586 16956 29358 115508 22024 5488 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.117 198 PASS . . . . . . . . . . . . . . . . 0.15436241 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.0199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.52 0.37 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200457085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.177e-06 0 0 0 0 9.153e-06 0 0 0.0077 0.0004 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . rs73005867 rs200457085 rs200457085 1 1538 10 1/0 0,214,255 +rs78452463 19 9006657 A C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9006657 9006657 Chr19(GRCh37):g.9006657A>C 39591 39591 NM_024690.2:c.39591T>G p.Ser13197Arg p.Ser13197Arg 44 606154 -16 5' 86.16 9.44859 0.982293 8.41444 86.16 9.44859 0.982293 8.32081 0 SEA domain rs78452463 yes no Frequency/1000G 2 0.000000 0 0.000192 0.001303 0.000032 0.000000 0.000000 0.000000 0.000165 0.000317 0.000000 0.001303 47 20 1 0 0 0 19 7 0 244270 15344 31184 9558 16624 28806 115284 22068 5402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 20 1 0 0 0 19 7 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -0.844 S Ser AGT 0.149 R Arg AGG 0.207 13197 12 2 Pig -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0.04 IV.32 214 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon44:c.T39591G:p.S13197R . MUC16:NM_024690:exon44:c.T39591G:p.S13197R . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.001 . . 146.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S13197R|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.44) . . . . . . . -1.7194 -1.901 -1.719 c . . . . . 7.978e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.293 . . exonic exonic exonic . . 0.054 @ . . . 0.44 0.34 182 ENSG00000181143 MUC16 MUC16 . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.025 0.002 . . 37 . 0.185 . . 0.246 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.026 . . 0 0 0 0 0 0 . 0.209 . . 0.254 . . . . . . 0 0.010 . . . . . 0.011 . 0.147 . HET 1 rs78452463 . . . . . . . . . . . . 0.8599 . ENST00000542240 II.99 -2.8 . 0.000000 B5ME49 . . . . . 0.005 . . . 0 8.427e-06 0 0 0 0 1.834e-05 0 0 0.1136 0.0065 0.0143 0 0 0.1591 0.0027 0 . . 0.246 . -0.874 -0.874000 . . 0.000000 . . 1.0E-214 0.000 0.063 . 0.016 0.001 . 0.000 . 0.021 -0.874 -2.478 . . . rs78452463 rs78452463 1 1538 10 1/0 0,224,255 +rs112279662 19 9009761 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9009761 9009761 Chr19(GRCh37):g.9009761G>A 39014-49 39014-49 NM_024690.2:c.39014-49C>T p.? p.? 39 38 606154 -49 3' 77.6552 VIII.52 0.696177 4.88378 77.6552 VIII.52 0.696177 4.75281 0 rs112279662 yes no Frequency 1 A 0.000000 0 0.000213 0.001039 0.000208 0.000000 0.000353 0.000000 0.000154 0.000084 0.000357 0.001039 53 19 6 0 6 0 18 2 2 248262 18290 28786 9274 17000 28408 117186 23720 5598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 19 6 0 6 0 18 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.005 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.4377 . . . . . . . . 2.319e-04 . . . 0.0004 0.0003 0 0.0004 0 0.0005 0 0 0.0005 0.0002 0 0.0003 0 0.0004 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.16 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112279662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.162e-05 7.05e-05 0 0.0002 0 0 0 0 0.0054 0.0028 0.0096 0 0.0047 0.0012 0.0018 0.0037 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs112279662 rs112279662 1 1538 10 1.I 0,0,0 +rs750193122 19 9012791 G T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012791 9012791 Chr19(GRCh37):g.9012791G>T 38653 38653 NM_024690.2:c.38653C>A p.Arg12885= p.Arg12885Arg 34 606154 -18 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.20946 0 SEA domain rs750193122 yes no Frequency 1 G 0.000000 0 0.000228 0.001294 0.000032 0.000119 0.000644 0.000000 0.000126 0.000089 0.000363 0.001294 55 24 1 1 11 0 14 2 2 241314 18544 31130 8434 17078 26832 111398 22394 5504 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 55 24 1 1 11 0 14 2 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.086 R Arg CGG 0.207 R Arg AGG 0.207 12885 201 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.C38653A:p.R12885R MUC16:uc002mkp.3:exon34:c.C38653A:p.R12885R MUC16:NM_024690:exon34:c.C38653A:p.R12885R . . 0.18627451 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 204.0 . . SYNONYMOUS_CODING(LOW|SILENT|Cgg/Agg|R12885|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -0.4229 . . . . . . . . 0.010 . . . 0.0087 0.0094 0.0108 0.0077 0.0075 0.0073 0.0094 0.0157 0.0096 0.0109 0.0110 0.0078 0.0276 0.0082 0.0147 0.0158 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.08 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs750193122 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.485e-05 0 0.0001 0 4.949e-05 7.905e-05 0 0 0.0061 0.0025 0.0021 0 0.0166 0.0005 0.0006 0.0035 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . 0.011 rs4992698 rs4992698 rs4992698 rs4992698 1 1538 10 1/0 0,203,255 +rs574443275 19 9012795 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012795 9012795 Chr19(GRCh37):g.9012795C>T 38649 38649 NM_024690.2:c.38649G>A p.Thr12883= p.Thr12883Thr 34 606154 -22 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.47845 0 SEA domain rs574443275 yes no Frequency/1000G 2 C 0.000200 T 1 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000272 0.001340 0.000348 0.000231 0.000569 0.000000 0.000104 0.000085 0.000517 0.001340 68 28 11 2 10 0 12 2 3 250400 20900 31620 8656 17574 27210 115188 23452 5800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 68 28 11 2 10 0 12 2 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -3.588 T Thr ACG 0.116 T Thr ACA 0.280 12883 187 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000181143:ENST00000397910:exon34:c.G38649A:p.T12883T MUC16:uc002mkp.3:exon34:c.G38649A:p.T12883T MUC16:NM_024690:exon34:c.G38649A:p.T12883T . . 0.12886597 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 194.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T12883|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.1480 . . . . . . . . 0.010 . . . 0.0089 0.0093 0.0115 0.0075 0.0072 0.0071 0.0092 0.0154 0.0098 0.0108 0.0118 0.0078 0.0267 0.0080 0.0143 0.0155 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.21 0.13 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs574443275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 8.871e-05 0.0003 0.0002 0.0001 0 2.931e-05 0.0002 0 0.0042 0.0019 0.0015 0 0.0072 0.0007 0.0007 0.0026 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs4992697 rs4992697 rs4992697 rs4992697 1 1538 10 1/0 0,200,255 +rs749421802 19 9012813 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012813 9012813 Chr19(GRCh37):g.9012813G>A 38631 38631 NM_024690.2:c.38631C>T p.Ser12877= p.Ser12877Ser 34 606154 -40 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 2.93569 0 SEA domain rs749421802 yes no Frequency 1 G 0.000000 0 0.000230 0.001531 0.000030 0.000000 0.000441 0.000000 0.000123 0.000121 0.000163 0.001531 61 33 1 0 8 0 15 3 1 265762 21556 33460 9692 18122 29798 122166 24838 6130 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 33 1 0 8 0 15 3 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.440 S Ser TCC 0.220 S Ser TCT 0.185 12877 183 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.C38631T:p.S12877S MUC16:uc002mkp.3:exon34:c.C38631T:p.S12877S MUC16:NM_024690:exon34:c.C38631T:p.S12877S . . 0.119469024 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S12877|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -0.2704 . . . . . . . . 7.342e-03 . . . 0.0052 0.0064 0.0063 0.0074 0.0032 0.0055 0.0057 0.0099 0.0055 0.0061 0.0063 0.0058 0.0041 0.0052 0.0059 0.0099 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.11 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs749421802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.313e-06 0 0 0 4.57e-05 9.161e-06 0 0 0.0051 0.0023 0.0015 0 0.0075 0.0007 0.0011 0.0013 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . rs4992696 rs4992696 rs4992696 rs4992696 1 1538 10 1/0 0,193,255 +rs771383463 19 9012816 G T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012816 9012816 Chr19(GRCh37):g.9012816G>T 38628 38628 NM_024690.2:c.38628C>A p.Gly12876= p.Gly12876Gly 34 606154 -43 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.21666 0 SEA domain rs771383463 yes no Frequency 1 G 0.000000 0 0.000254 0.001814 0.000060 0.000000 0.000501 0.000000 0.000116 0.000122 0.000329 0.001814 67 37 2 0 9 0 14 3 2 263500 20398 33586 9788 17954 29948 121154 24600 6072 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 37 2 0 9 0 14 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.489 G Gly GGC 0.342 G Gly GGA 0.246 12876 102 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.C38628A:p.G12876G MUC16:uc002mkp.3:exon34:c.C38628A:p.G12876G MUC16:NM_024690:exon34:c.C38628A:p.G12876G . . 0.12970711 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 239.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|G12876|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -0.5667 . . . . . . . . 7.358e-03 . . . 0.0052 0.0065 0.0064 0.0081 0.0037 0.0055 0.0057 0.0100 0.0055 0.0062 0.0064 0.0062 0.0044 0.0054 0.0058 0.0100 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.24 0.12 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs771383463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.14e-06 0 0 0 4.549e-05 0 0 0 0.0070 0.0030 0.0035 0 0.0105 0.0008 0.0012 0.0029 . . . . . . . . . . . 1.0E-102 . . . . . . . . . . . . rs4992695 rs4992695 rs4992695 rs4992695 1 1538 10 1/0 0,197,255 +rs4992694 19 9012819 T A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012819 9012819 Chr19(GRCh37):g.9012819T>A 38625 38625 NM_024690.2:c.38625A>T p.Pro12875= p.Pro12875Pro 34 606154 -46 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.56405 0 Cryptic Acceptor Strongly Activated 9012810 0.047005 6.09528 0.330097 78.6683 SEA domain rs4992694 yes no Frequency 1 T 0.000000 0 0.000535 0.003144 0.000149 0.000000 0.001014 0.000000 0.000318 0.000544 0.000847 0.003144 139 60 5 0 18 0 38 13 5 259590 19082 33478 9796 17748 30014 119664 23902 5906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 139 60 5 0 18 0 38 13 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -4.799 P Pro CCA 0.274 P Pro CCT 0.283 12875 228 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.A38625T:p.P12875P MUC16:uc002mkp.3:exon34:c.A38625T:p.P12875P MUC16:NM_024690:exon34:c.A38625T:p.P12875P . . 0.2360515 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 233.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccA/ccT|P12875|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.3210 . . . . . . . . 7.398e-03 . . . 0.0055 0.0065 0.0063 0.0074 0.0034 0.0056 0.0057 0.0100 0.0058 0.0062 0.0063 0.0058 0.0043 0.0054 0.0058 0.0100 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.15 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4992694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.133e-06 0 0 0 4.543e-05 0 0 0 0.0153 0.0078 0.0114 0 0.0288 0.0063 0.0038 0.0094 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . rs4992694 rs4992694 rs4992694 rs4992694 1 1538 10 1/0 0,201,255 +rs4992693 19 9012823 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9012823 9012823 Chr19(GRCh37):g.9012823T>C 38621 38621 NM_024690.2:c.38621A>G p.His12874Arg p.His12874Arg 34 606154 -50 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.90727 0 SEA domain rs4992693 yes no Frequency 1 T 0.000000 0 0.000366 0.002556 0.000089 0.000000 0.000721 0.000000 0.000164 0.000203 0.000328 0.002556 97 54 3 0 13 0 20 5 2 265046 21128 33524 9768 18024 30024 121828 24654 6096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 97 54 3 0 13 0 20 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -2.297 H His CAC 0.587 R Arg CGC 0.190 12874 12 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Not scored 0.0 0.0 193 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.A38621G:p.H12874R MUC16:uc002mkp.3:exon34:c.A38621G:p.H12874R MUC16:NM_024690:exon34:c.A38621G:p.H12874R . . 0.14285715 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.029 . @ . . . . . 1 0.011 . . 238.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H12874R|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -2.1376 -2.244 -2.138 c . . . . . 7.302e-03 . . . 0.0052 0.0065 0.0066 0.0074 0.0034 0.0056 0.0057 0.0099 0.0055 0.0061 0.0066 0.0058 0.0043 0.0053 0.0059 0.0098 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.284 . . exonic exonic exonic . . 0.040 @ . . . 0.24 0.15 182 ENSG00000181143 MUC16 MUC16 . . . 0.002 0.092 . . . . . . . Likely_benign . 0 . . . . . . T 0.015 0.001 . . 37 . 0.132 . . 0.168 . . . 0.096 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.166 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.025 . . . . . 0.023 . 0.339 . LowAF 0.38 rs4992693 . . . . . . . . . . . . I.73 5.97E-4 . I.92 -3.84 . 0.000000 B5ME49 . . . . . 0.013 . . . 0 0 0 0 0 0 0 0 0 0.0090 0.0041 0.0050 0 0.0132 0.0019 0.0016 0.0027 . . 0.246 . -2.521 -2.521000 . . 0.000000 . . 1.0E-193 0.000 0.063 . 0.016 0.001 . 0.000 . 0.001 -2.521 0.084 . rs4992693 rs4992693 rs4992693 rs4992693 1 1538 10 1/0 0,192,255 +. 19 9012826 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9012826 9012826 Chr19(GRCh37):g.9012826T>C 38618 38618 NM_024690.2:c.38618A>G p.His12873Arg p.His12873Arg 34 606154 -53 5' 81.6133 6.31947 0.711384 3.50434 81.6133 6.31947 0.711384 3.80868 0 SEA domain 0.000577 0.000882 0.000000 0.000000 0.001053 0.000000 0.000508 0.000000 0.001425 0.001053 13 5 0 0 1 0 6 0 1 22520 5666 580 290 950 0 11804 2528 702 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 5 0 0 1 0 6 0 1 0 0 0 0 0 0 0 0 0 RF 66 Genomes transition A G A>G 0.000 -2.377 H His CAT 0.413 R Arg CGT 0.082 12873 12 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 353.86 0.00 Not scored 0.0 0.0 175 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.A38618G:p.H12873R MUC16:uc002mkp.3:exon34:c.A38618G:p.H12873R MUC16:NM_024690:exon34:c.A38618G:p.H12873R . . 0.12252964 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.014 . . 253.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H12873R|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.9334 -2.094 -1.933 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.286 . . exonic exonic exonic . . 0.044 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.002 0.090 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.235 . . 0.050 . . . . 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.142 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.023 . . . . . 0.407 . 0.104 . LowAF 0.74 . . . . . . . . . . . . . 9.967 . . I.74 -3.49 . 0.000000 B5ME49 . . . . . 0.004 . . . . . . . . . . . . 0.0009 0.0006 0 0 0.0011 0 0.0005 0.0014 . . 0.246 . -2.450 -2.450000 . . 0.000000 . . 1.0E-175 0.000 0.063 . 0.016 0.000 . 0.001 . 0.000 -2.450 -1.357 . . . . . 1 1538 10 1/0 0,188,255 +rs796340878 19 9012896 C G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9012896 9012896 Chr19(GRCh37):g.9012896C>G 38548 38548 NM_024690.2:c.38548G>C p.Ala12850Pro p.Ala12850Pro 34 606154 3 3' 76.836 7.03586 0.870325 6.92892 76.836 6.94578 0.907182 6.96767 0.00984852 rs796340878 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11110 1782 204 268 298 0 7744 526 288 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 161 Genomes transversion G C G>C 0.000 -3.588 A Ala GCT 0.263 P Pro CCT 0.283 12850 12 1 -1 -1 -1 0 0.39 8.I 8 31 32.5 27 C0 353.86 0.00 Not scored 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.G38548C:p.A12850P MUC16:uc002mkp.3:exon34:c.G38548C:p.A12850P MUC16:NM_024690:exon34:c.G38548C:p.A12850P . . 0.11020408 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.031 . @ . . . . . 1 0.006 . . 245.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A12850P|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.8020 -1.986 -1.802 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.342 . . exonic exonic exonic . . 0.036 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.377 0.199 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.233 . . 0.193 . . . 0.272 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.087 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.546 . . . . . 0.000 . 0.121 . LowAF 0.16 . . . . . . . . . . . . . 0.0921 . . 2.VII -4.13 . 0.000000 B5ME49 . . . . . 0.015 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . 0.246 . -3.685 -3.685000 . . 0.000000 . . 1.0E-179 0.000 0.063 . 0.016 0.000 . 0.000 . 0.002 -3.685 -0.536 . . . . . 1 1538 10 1/0 0,188,255 +rs796975861 19 9012897 A C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9012897 9012897 Chr19(GRCh37):g.9012897A>C 38547 38547 NM_024690.2:c.38547T>G p.Ser12849= p.Ser12849Ser 34 606154 2 3' 76.836 7.03586 0.870325 6.92892 76.836 6.36594 0.781528 5.98513 -0.0657477 rs796975861 no no 0 A 0.000000 0 transversion T G T>G 0.000 -2.861 S Ser TCT 0.185 S Ser TCG 0.056 12849 155 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.T38547G:p.S12849S MUC16:uc002mkp.3:exon34:c.T38547G:p.S12849S MUC16:NM_024690:exon34:c.T38547G:p.S12849S . . 0.104166664 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 240.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcG|S12849|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.0282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-155 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,190,255 +rs796124770 19 9012898 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9012898 9012898 Chr19(GRCh37):g.9012898G>A 38546 38546 NM_024690.2:c.38546C>T p.Ser12849Phe p.Ser12849Phe 34 606154 1 3' 76.836 7.03586 0.870325 6.92892 76.3502 6.06522 0.882872 6.60791 -0.0432875 rs796124770 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.360 S Ser TCT 0.185 F Phe TTT 0.454 12849 12 1 -2 -2 -4 I.42 0 9.II 5.II 32 132 155 C0 353.86 0.00 Not scored 0.0 0.0 165 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon34:c.C38546T:p.S12849F MUC16:uc002mkp.3:exon34:c.C38546T:p.S12849F MUC16:NM_024690:exon34:c.C38546T:p.S12849F . . 0.10373444 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.229 . @ . . . . . 1 0.031 . . 241.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S12849F|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.34) . . . . . . . -1.4276 -1.500 -1.428 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.021 . . exonic exonic exonic . . 0.077 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.013 . . 0.459 . . . 0.112 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.079 . . 0 0 0 0 0 0 . 0.184 . . 0.121 . . . . . . 0 0.599 . . . . . 0.050 . 0.100 . LowAF 0.02 . . . . . . . . . . . . . II.62 . ENST00000397910 2.VII -1.7 . 0.000000 B5ME49 0 0.034 . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.323 -0.323000 . . 0.000000 . . 1.0E-165 0.000 0.063 . 0.016 0.002 . 0.042 . 0.018 -0.323 -0.029 . . . . . 1 1538 10 1/0 0,189,255 +rs199812452 19 9012911 T G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution intron GRCh37 9012911 9012911 Chr19(GRCh37):g.9012911T>G 38546-13 38546-13 NM_024690.2:c.38546-13A>C p.? p.? 34 33 606154 -13 3' 76.836 7.03586 0.870325 6.92892 77.1265 8.33037 0.931884 VIII.02 0.0861663 Cryptic Acceptor Weakly Activated 9012898 7.03586 0.870325 76.836 8.33037 0.931884 77.1265 9012911 -70.9225 rs199812452 yes no Frequency 1 T 0.000000 0 0.000022 0.000000 0.000000 0.000121 0.000060 0.000036 0.000010 0.000048 0.000000 0.000121 5 0 0 1 1 1 1 1 0 226276 14540 31320 8244 16608 27538 102392 20646 4988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 1 1 1 1 1 0 0 0 0 0 0 0 0 0 0 RF 160 Exomes transversion A C A>C 0.000 -2.054 220 PASS . . . . . . . . . . . . . . . . 0.21182266 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 203.0 . . INTRON(MODIFIER||||MUC16|mRNA|CODING|NM_024690|) . . . . . . . -0.4509 . . . . . . . . 4.254e-04 . . . 0 0.0005 9.363e-05 0 0 0.0004 0 0.0019 0 0.0004 9.658e-05 0 0 0.0003 0 0.0019 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.13 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199812452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.21e-05 0 0.0001 6.021e-05 4.844e-05 9.766e-06 0 3.631e-05 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs199812452 rs199812452 1 1538 10 1/0 0,206,255 +rs76949269 19 9021075 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021075 9021075 Chr19(GRCh37):g.9021075T>C 37248 37248 NM_024690.2:c.37248A>G p.Thr12416= p.Thr12416Thr 19 606154 -22 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.24062 0 SEA domain rs76949269 yes no Frequency 1 0.000000 0 0.000115 0.000673 0.000030 0.000000 0.000057 0.000000 0.000058 0.000383 0.000000 0.000673 30 12 1 0 1 0 7 9 0 259832 17834 33870 10092 17666 30770 120200 23492 5908 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 12 1 0 1 0 7 9 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -4.395 T Thr ACA 0.280 T Thr ACG 0.116 12416 255 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.A37248G:p.T12416T MUC16:uc002mkp.3:exon19:c.A37248G:p.T12416T MUC16:NM_024690:exon19:c.A37248G:p.T12416T . . 0.3568075 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 213.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T12416|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -1.2055 . . . . . . . . 1.013e-03 . . . 0.0050 0.0014 0 0 0 0.0018 0 0 0.0058 0.0012 0 0 0 0.0014 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.38 0.39 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76949269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0044 0.0021 0.0029 0 0.0023 0.0075 0.0008 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76949269 rs76949269 1 1538 10 1/0 0,217,255 +. 19 9021081 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021081 9021081 Chr19(GRCh37):g.9021081G>A 37242 37242 NM_024690.2:c.37242C>T p.Asn12414= p.Asn12414Asn 19 606154 -28 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 6.52172 0 SEA domain rs1032628723 no no 0 0.000000 0 0.000181 0.000000 0.000000 0.000000 0.000000 0.000000 0.000204 0.000695 0.000000 0.000695 3 0 0 0 0 0 2 1 0 16556 3334 444 272 752 0 9804 1438 512 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 97 Genomes transition C T C>T 0.354 0.286 N Asn AAC 0.536 N Asn AAT 0.464 12414 225 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.C37242T:p.N12414N MUC16:uc002mkp.3:exon19:c.C37242T:p.N12414N MUC16:NM_024690:exon19:c.C37242T:p.N12414N . . 0.22624435 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 221.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N12414|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . 0.0956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0007 0.0002 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +rs79920615 19 9021096 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021096 9021096 Chr19(GRCh37):g.9021096G>A 37227 37227 NM_024690.2:c.37227C>T p.Gly12409= p.Gly12409Gly 19 606154 -43 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 VI.85 0 Cryptic Acceptor Weakly Activated 9021090 6.09945 0.209243 78.6683 6.59609 0.303621 80.7716 SEA domain rs79920615 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000072 0.000376 0.000000 0.000000 0.000056 0.000000 0.000041 0.000252 0.000000 0.000376 19 7 0 0 1 0 5 6 0 262268 18624 33966 10116 17814 30778 121212 23764 5994 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 7 0 0 1 0 5 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.024 -0.682 G Gly GGC 0.342 G Gly GGT 0.162 12409 214 PASS . . . . . . 0.0002 . . 0.001 . ENSG00000181143:ENST00000397910:exon19:c.C37227T:p.G12409G MUC16:uc002mkp.3:exon19:c.C37227T:p.G12409G MUC16:NM_024690:exon19:c.C37227T:p.G12409G . . 0.24122807 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G12409|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -0.2080 . . . . . . . . 7.982e-06 . . . 0 1.11e-05 0 0 0 2.374e-05 0 0 0 9.474e-06 0 0 0 1.841e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.32 0.31 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79920615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.064e-06 0 0 0 0 8.965e-06 0 0 0.0021 0.0011 0 0 0.0018 0.0041 0.0004 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs79920615 rs79920615 1 1538 10 1/0 0,205,255 +rs77455485 19 9021105 A T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021105 9021105 Chr19(GRCh37):g.9021105A>T 37218 37218 NM_024690.2:c.37218T>A p.Gly12406= p.Gly12406Gly 19 606154 -52 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.40573 0 SEA domain rs77455485 no no 0 0.000000 0 0.000488 0.001528 0.000000 0.000000 0.000000 0.000000 0.000111 0.001821 0.000000 0.001821 7 4 0 0 0 0 1 2 0 14330 2618 362 266 560 0 8970 1098 456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 4 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 RF 112 Genomes transversion T A T>A 0.000 -2.942 G Gly GGT 0.162 G Gly GGA 0.246 12406 216 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.T37218A:p.G12406G MUC16:uc002mkp.3:exon19:c.T37218A:p.G12406G MUC16:NM_024690:exon19:c.T37218A:p.G12406G . . 0.2 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 240.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggT/ggA|G12406|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -0.6867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.34 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77455485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0005 0 0 0 0.0018 0.0001 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . rs77455485 rs77455485 1 1538 10 1/0 0,198,255 +rs75219945 19 9021107 C G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9021107 9021107 Chr19(GRCh37):g.9021107C>G 37216 37216 NM_024690.2:c.37216G>C p.Gly12406Arg p.Gly12406Arg 19 606154 -54 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.56426 0 SEA domain rs75219945 yes no Frequency/1000G 2 0.000000 0 0.001597 0.000000 0.008200 0.000000 0.000000 0.000000 0.000747 0.000521 0.000030 0.000000 0.000170 0.005101 0.000075 0.000302 0.001193 0.005101 193 9 1 0 3 157 9 7 7 258500 17276 33858 10112 17626 30778 119784 23198 5868 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 193 9 1 0 3 157 9 7 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -2.861 G Gly GGT 0.162 R Arg CGT 0.082 12406 12 1 -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . 0.0016 . . . 0.0082 ENSG00000181143:ENST00000397910:exon19:c.G37216C:p.G12406R MUC16:uc002mkp.3:exon19:c.G37216C:p.G12406R MUC16:NM_024690:exon19:c.G37216C:p.G12406R . . 0.45106384 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.079 . @ . . . . . 1 0.023 . . 235.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G12406R|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -1.7993 -1.927 -1.799 c . . . . . 6.864e-04 . . . 0 0.0009 8.658e-05 0.0002 0 0 0 0.0048 0 0.0008 8.929e-05 0.0001 0 0 0.0043 0.0048 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.296 . . exonic exonic exonic . . 0.022 0.0016 . . . 0.33 0.29 182 ENSG00000181143 MUC16 MUC16 . . . 0.088 0.161 . 8 0.000123122 64976 0 0 59986 Uncertain_significance . 0 . . . . . . T 0.048 0.002 . . 37 . 0.156 . . 0.235 . . . 0.042 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.542 . . 0 0 0 0 0 0 . 0.090 . . 0.093 . . . . . . 0 0.272 . . . . . 0.521 . 0.147 . HET . rs75219945 . . . . . . . . . . . . XI.36 . ENST00000397910 II.87 -5.75 . 0.000000 B5ME49 . . . . . 0.010 . . . 0 0.0007 0 0 5.798e-05 0 3.584e-05 0.0011 0.0051 0.0045 0.0020 0.0034 0 0.0053 0.0078 0.0006 0.0026 . . 0.246 . -2.821 -2.821000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.002 . 0.001 -2.821 -2.201 . . . rs75219945 rs75219945 1 1538 10 1/0 0,223,255 +rs368685638 19 9021112 T G - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9021112 9021112 Chr19(GRCh37):g.9021112T>G 37211 37211 NM_024690.2:c.37211A>C p.Asp12404Ala p.Asp12404Ala 19 606154 -59 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.11383 0 SEA domain 0.000301 0.000295 0.000000 0.000000 0.000000 0.000000 0.000102 0.002165 0.000000 0.002165 5 1 0 0 0 0 1 3 0 16604 3394 472 272 778 0 9780 1386 522 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 RF 97 Genomes transversion A C A>C 0.102 0.125 D Asp GAC 0.539 A Ala GCC 0.403 12404 12 1 -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 353.86 0.00 Not scored 0.0 0.0 214 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.A37211C:p.D12404A MUC16:uc002mkp.3:exon19:c.A37211C:p.D12404A MUC16:NM_024690:exon19:c.A37211C:p.D12404A . . 0.19665273 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.076 . @ . . . . . 1 0.023 . . 239.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|D12404A|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -1.0539 -1.172 -1.054 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.566 . . exonic exonic exonic . . 0.176 @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.286 0.011 . . 37 . 0.453 . . 0.504 . . . 0.681 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.823 . . 0 0 0 0 0 0 . 0.248 . . 0.277 . . . . . . 0 0.586 . . . . . 0.041 . 0.146 . HET . . . . . . . . . . . . . . II.78 . ENST00000397910 3.IX 0.781 . 0.000000 B5ME49 . . . . . 0.076 . . . . . . . . . . . . 0.0003 0.0003 0 0 0 0.0022 0.0001 0 . . 0.246 . -0.033 -0.033000 . . 0.000000 . . 1.0E-214 0.000 0.063 . 0.074 0.005 . 0.118 . 0.056 -0.033 0.054 . . . . . 1 1538 10 1/0 0,198,255 +rs79498466 19 9021118 C T - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution missense exon GRCh37 9021118 9021118 Chr19(GRCh37):g.9021118C>T 37205 37205 NM_024690.2:c.37205G>A p.Gly12402Glu p.Gly12402Glu 19 606154 -65 5' 81.7977 7.53822 0.553942 7.21473 81.7977 7.53822 0.553942 7.52481 0 Cryptic Donor Weakly Activated 9021124 1.15181 0.003508 60.7026 1.20433 0.003631 60.3925 SEA domain rs79498466 no no 0 0.000000 0 0.001470 0.003093 0.003546 0.000000 0.002762 0.000000 0.000368 0.008159 0.000000 0.008159 18 6 1 0 1 0 3 7 0 12248 1940 282 264 362 0 8162 858 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 6 1 0 1 0 3 7 0 0 0 0 0 0 0 0 0 0 RF 131 Genomes transition G A G>A 0.000 -3.023 G Gly GGG 0.250 E Glu GAG 0.583 12402 12 1 -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.G37205A:p.G12402E MUC16:uc002mkp.3:exon19:c.G37205A:p.G12402E MUC16:NM_024690:exon19:c.G37205A:p.G12402E . . 0.45454547 . . @ 105 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.061 . @ . . . . . 1 0.014 . . 231.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G12402E|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -2.3503 -2.376 -2.350 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.293 . . exonic exonic exonic . . 0.019 @ . . . 0.33 0.28 182 ENSG00000181143 MUC16 MUC16 . . . 0.340 0.196 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.063 0.003 . . 37 . 0.049 . . 0.488 . . . 0.001 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.024 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.066 . . . . . 0.029 . 0.049 . HET . rs79498466 . . . . . . . . . . . . 1.818 . ENST00000397910 3.IX -6.18 . 0.000000 B5ME49 . . . . . 0.004 . . . . . . . . . . . . 0.0031 0.0015 0.0035 0 0.0028 0.0082 0.0004 0 . . 0.246 . -3.633 -3.633000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.001 . 0.002 -3.633 -1.635 . . . rs79498466 rs79498466 1 1538 10 1/0 0,224,255 +rs369228039 19 9021128 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021128 9021128 Chr19(GRCh37):g.9021128G>A 37195 37195 NM_024690.2:c.37195C>T p.Leu12399= p.Leu12399Leu 19 606154 57 3' 85.6507 9.20118 0.733089 4.28814 85.6507 9.20118 0.733089 4.00052 0 Cryptic Acceptor Weakly Activated 9021122 4.47883 0.023032 73.0879 4.86782 0.036002 75.1911 SEA domain rs369228039 yes no Frequency 1 0.000000 0 0.000026 0.000156 0.000000 0.000000 0.000000 0.000000 0.000025 0.000042 0.000000 0.000156 7 3 0 0 0 0 3 1 0 264606 19286 34086 10120 18170 30780 122264 23846 6054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.079 -0.037 L Leu CTG 0.404 L Leu TTG 0.127 12399 212 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.C37195T:p.L12399L MUC16:uc002mkp.3:exon19:c.C37195T:p.L12399L MUC16:NM_024690:exon19:c.C37195T:p.L12399L . . 0.1904762 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 231.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L12399|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -0.0482 . . . . . . . . 2.396e-05 . . . 0 3.33e-05 0 0 0 7.12e-05 0 0 0 2.842e-05 0 0 0 5.521e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.3 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369228039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.219e-05 0 0 0 0 2.687e-05 0 0 0.0008 0.0002 0 0 0 0.0006 0 0 . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,199,255 +. 19 9021138 G A - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021138 9021138 Chr19(GRCh37):g.9021138G>A 37185 37185 NM_024690.2:c.37185C>T p.Thr12395= p.Thr12395Thr 19 606154 47 3' 85.6507 9.20118 0.733089 4.28814 85.6507 9.20118 0.733089 3.85595 0 SEA domain 0.000237 0.000282 0.000000 0.000000 0.000000 0.000000 0.000000 0.001151 0.001859 0.001151 4 1 0 0 0 0 0 2 1 16890 3546 428 270 604 0 9766 1738 538 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 RF 100 Genomes transition C T C>T 0.992 0.286 T Thr ACC 0.361 T Thr ACT 0.243 12395 225 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.C37185T:p.T12395T MUC16:uc002mkp.3:exon19:c.C37185T:p.T12395T MUC16:NM_024690:exon19:c.C37185T:p.T12395T . . 0.22624435 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 221.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T12395|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . 0.5833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0 0 0 0.0012 0 0.0019 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,204,255 +rs200978134 19 9021159 T C - MUC16 15582 Mucin 16, cell surface associated NM_024690.2 -1 43816 43524 NP_078966.2 substitution synonymous exon GRCh37 9021159 9021159 Chr19(GRCh37):g.9021159T>C 37164 37164 NM_024690.2:c.37164A>G p.Val12388= p.Val12388Val 19 606154 26 3' 85.6507 9.20118 0.733089 4.28814 85.6507 9.20118 0.733089 4.54152 0 SEA domain rs200978134 yes no Frequency 1 0.000000 0 0.000023 0.000230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000230 6 4 0 0 0 0 0 2 0 258718 17358 33880 10102 17662 30780 119766 23296 5874 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 4 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.360 V Val GTA 0.114 V Val GTG 0.468 12388 255 PASS . . . . . . . . . . . ENSG00000181143:ENST00000397910:exon19:c.A37164G:p.V12388V MUC16:uc002mkp.3:exon19:c.A37164G:p.V12388V MUC16:NM_024690:exon19:c.A37164G:p.V12388V . . 0.42639595 . . @ 84 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 197.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V12388|MUC16|mRNA|CODING|NM_024690|NM_024690.ex.19) . . . . . . . -0.1860 . . . . . . . . 2.718e-04 . . . 0.0011 0.0003 0 0 0 0.0003 0.0014 0 0.0013 0.0002 0 0 0 0.0002 0.0014 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.36 0.38 182 ENSG00000181143 MUC16 MUC16 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200978134 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0018 0.0005 0 0 0 0.0020 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs200978134 rs200978134 1 1538 10 1/0 0,230,255 +. 19 10080619 A G - COL5A3 14864 Collagen, type V, alpha 3 NM_015719.3 -1 6174 5238 NP_056534.2 P25940 substitution intron GRCh37 10080619 10080619 Chr19(GRCh37):g.10080619A>G 3937-21 3937-21 NM_015719.3:c.3937-21T>C p.? p.? 55 54 120216 -21 3' 80.7249 9.11923 0.811585 X.13 80.7249 9.11923 0.828126 9.99617 0.0067937 10080617 -24.7594 transition T C T>C 0.000 -1.651 201 PASS . . . . . . . . . . . . . . . . 0.16363636 . . . 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 55.0 . . INTRON(MODIFIER||||COL5A3|mRNA|CODING|NM_015719|) . . . . . . . -0.4955 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000080573 COL5A3 COL5A3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs541076698 19 10114582 C T - COL5A3 14864 Collagen, type V, alpha 3 NM_015719.3 -1 6174 5238 NP_056534.2 P25940 substitution intron GRCh37 10114582 10114582 Chr19(GRCh37):g.10114582C>T 699+135 699+135 NM_015719.3:c.699+135G>A p.? p.? 5 5 120216 135 5' 84.0719 8.94615 0.987867 9.10232 84.0719 8.94615 0.987867 9.10232 0 rs541076698 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000867 0.002003 0.000000 0.002003 20 0 0 0 0 0 13 7 0 30936 8712 838 302 1622 0 14990 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 0 0 0 0 0 13 7 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -0.117 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.46153846 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . INTRON(MODIFIER||||COL5A3|mRNA|CODING|NM_015719|) . . . . . . . 0.1326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000080573 COL5A3 COL5A3 . . . . . . 21 0.000323196 64976 20 0.000333411 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs541076698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0.0020 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs61758431 19 10273370 A C - DNMT1 2976 DNA methyltransferase 1 NM_001130823.2 -1 5458 4899 NP_001124295.1 substitution missense exon GRCh37 10273370 10273370 Chr19(GRCh37):g.10273370A>C 981 981 NM_001130823.2:c.981T>G p.Ile327Met p.Ile327Met 13 126375 -28 5' 82.523 9.06409 0.876728 7.13321 82.523 9.06409 0.876728 7.60217 0 DNA (cytosine-5)-methyltransferase 1, eukaryote rs61758431 yes no Frequency/1000G 2 A likely_benign 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000509 0.000000 0.000000 0.002858 0.000000 0.000000 0.000640 0.001094 0.000465 0.002858 141 0 0 29 0 0 81 28 3 276792 23968 34408 10148 18868 30782 126576 25592 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 141 0 0 29 0 0 81 28 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 133 RCV000287080.1 germline clinical testing Likely benign 1 Dementia, Deafness, and Sensory Neuropathy COSM4991201 Skin 0.000791 1264 transversion T G T>G 0.000 -0.763 I Ile ATT 0.356 M Met ATG 1.000 327 12 4 Olive baboon 2 1 2 0 0 5.II 5.VII 111 105 10 C0 353.86 0.00 Tolerated 0.09 IV.32 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.49295774 . . germline 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . Likely//\@benign Likely_benign RCV000287080.1 . MedGen CN239189 1 0.049 . . 71.0 . . . . 0.0003 0.0005 . 0.0003 0.0005 . -1.4360 -1.493 -1.436 c . . . . . 4.893e-04 . . . 0 0.0004 0 0 0.0018 0.0007 0 0 0 0.0005 0 0 0.0015 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.801 . . exonic exonic exonic . . 0.049 0.0002 . . . 0.35 0.38 182 ENSG00000130816 DNMT1 DNMT1 . . . 0.000 0.063 . 19 0.000292416 64976 18 0.00030007 59986 Uncertain_significance . 0 . 0.015 . . . . D 0.740 0.082 . . 37 . 0.611 . . 0.445 . . . 0.033 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.170 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 0.327 . . . . . 0.016 . 0.030 . HET 0.12 rs61758431 . . . . . . . . . . . . 1.1073 0.0 . IV.22 -3.11 . 0.110000 . . . Name\x3dnsv833743 0.000308 . 0.065 . . . 0 0.0005 0 0.0027 0 0.0010 0.0006 0.0005 0 0 0.0008 0 0.0067 0 0.0018 0.0010 0 . . 0.730 . -0.793 -0.793000 . . 0.110000 . . 1.0E-255 0.000 0.063 . 0.074 0.020 . 0.021 . 0.222 -0.793 0.722 0.0005 rs61758431 rs61758431 rs61758431 rs61758431 1 1538 10 1/0 0,255,255 +rs559135150 19 10403992 G A - ICAM5 5348 Intercellular adhesion molecule 5, telencephalin NM_003259.3 1 3002 2775 NP_003250.3 Q9UMF0 substitution intron GRCh37 10403992 10403992 Chr19(GRCh37):g.10403992G>A 1465+70 1465+70 NM_003259.3:c.1465+70G>A p.? p.? 6 6 601852 70 5' 73.7552 6.95697 0.555979 9.71062 73.7552 6.95697 0.555979 9.59829 0 Cryptic Donor Strongly Activated 10403993 0.811283 0.041251 63.187 III.07 0.100319 72.1478 rs559135150 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.004100 0.000000 0.002000 0.000000 0.001002 0.000115 0.000000 0.006623 0.000000 0.000000 0.001400 0.001721 0.001020 0.006623 31 1 0 2 0 0 21 6 1 30948 8726 836 302 1622 0 14996 3486 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 1 0 2 0 0 21 6 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition G A G>A 0.000 -0.198 255 PASS . . . . . . 0.0012 . . 0.002 0.0041 . . . . . 0.3627451 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 102.0 . . . . . . . . . . 0.8863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0012 . . . . . . ENSG00000105376 ICAM5 ICAM5 . . . . . . 38 0.000584831 64976 32 0.000533458 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs559135150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0010 0 0.0066 0 0.0017 0.0014 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +rs201217111 19 10445100 G A - ICAM3 5346 Intercellular adhesion molecule 3 NM_002162.4 -1 1945 1644 NP_002153.2 P32942 substitution intron GRCh37 10445100 10445100 Chr19(GRCh37):g.10445100G>A 1193-16 1193-16 NM_002162.4:c.1193-16C>T p.? p.? 6 5 146631 -16 3' 77.6044 7.71069 0.118882 6.46462 77.6044 7.95853 0.194138 6.35616 0.221724 Cryptic Acceptor Weakly Activated 10445084 7.71069 0.118882 77.6044 7.95853 0.194138 77.6044 10445099 -6.59893 rs201217111 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000434 0.000042 0.000000 0.000000 0.000000 0.000000 0.000713 0.001087 0.000155 0.001087 120 1 0 0 0 0 90 28 1 276556 24016 34414 10108 18864 30760 126182 25754 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 0 0 0 0 90 28 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 80 transition C T C>T 0.008 -0.117 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.44134077 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . I.17 . . . . . . . . 4.815e-04 . . . 9.675e-05 0.0003 0 0 0.0018 0.0005 0 0 0 0.0004 0 0 0.0015 0.0006 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.33 0.36 182 ENSG00000076662 ICAM3 ICAM3 . . . . . . 20 0.000307806 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201217111 . . . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 6.535e-05 0.0004 0 0 0 0.0010 0.0007 0.0002 0 0 0.0007 0 0 0 0.0017 0.0010 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs201217111 rs201217111 1 1538 10 1/0 0,230,254 +rs201217111 19 10445100 G A - RAVER1 30296 Ribonucleoprotein, PTB-binding 1 NM_133452.2 -1 3593 2271 NP_597709.2 substitution upstream GRCh37 10445100 10445100 Chr19(GRCh37):g.10445100G>A -866 -866 NM_133452.2:c.-866C>T p.? p.? 1 609950 -1136 5' 72.4148 8.34752 0.791527 9.83271 72.4148 8.34752 0.791527 9.83271 0 Cryptic Acceptor Weakly Activated 10445084 7.71069 0.118882 77.6044 7.95853 0.194138 77.6044 rs201217111 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000434 0.000042 0.000000 0.000000 0.000000 0.000000 0.000713 0.001087 0.000155 0.001087 120 1 0 0 0 0 90 28 1 276556 24016 34414 10108 18864 30760 126182 25754 6458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 0 0 0 0 90 28 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 80 transition C T C>T 0.008 -0.117 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.44134077 . . @ 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . I.17 . . . . . . . . 4.815e-04 . . . 9.675e-05 0.0003 0 0 0.0018 0.0005 0 0 0 0.0004 0 0 0.0015 0.0006 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.33 0.36 182 ENSG00000076662 ICAM3 ICAM3 . . . . . . 20 0.000307806 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201217111 . . . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 6.535e-05 0.0004 0 0 0 0.0010 0.0007 0.0002 0 0 0.0007 0 0 0 0.0017 0.0010 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs201217111 rs201217111 1 1538 10 1/0 0,230,254 +rs55762744 19 10488926 C T - TYK2 12440 Tyrosine kinase 2 NM_003331.4 -1 4248 3564 NP_003322.3 P29597 substitution missense exon GRCh37 10488926 10488926 Chr19(GRCh37):g.10488926C>T 157 157 NM_003331.4:c.157G>A p.Ala53Thr p.Ala53Thr 3 176941 -37 5' 82.9985 9.27414 0.987397 9.59088 82.9985 9.27414 0.987397 9.24002 0 FERM domain Tyrosine-protein kinase, non-receptor Jak/Tyk2 Band 4.1 domain rs55762744 yes no Frequency/1000G 2 likely_benign 0.000000 0 0.003794 0.000000 0.005100 0.000000 0.009900 0.005800 0.007351 0.001963 0.003661 0.005533 0.000053 0.008285 0.010978 0.004460 0.007446 0.010978 2032 47 126 56 1 255 1384 115 48 276410 23944 34414 10122 18846 30778 126074 25786 6446 0.000080 0.000000 0.000000 0.000000 0.000000 0.000130 0.000127 0.000000 0.000310 11 0 0 0 0 2 8 0 1 2010 47 126 56 1 251 1368 115 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8503 4394 12897 97 12 109 0.0112791 0.00272356 0.00838075 0.0112791 0.00272356 0.00838075 77 RCV000441975.1 germline clinical testing Likely benign 1 not specified CM1210260 Multiple sclerosis, susceptibility to 22744673 DP transition G A G>A 0.693 2.869 A Ala GCT 0.263 T Thr ACT 0.243 53 10 8 Frog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Deleterious 0 III.76 bad 1.194E-5 2.111E-5 255 PASS . 0.0037 0.01 . 0.01 . 0.0038 0.0058 . 0.0099 0.0051 . . TYK2:NM_003331:exon3:c.G157A:p.A53T . . 0.4047619 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.672 . @ . . . . . 1 0.902 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A53T|TYK2|mRNA|CODING|NM_003331|NM_003331.ex.3) 0.0027 0.0084 0.011 0.0027 0.0084 0.011 . 0.3444 0.208 0.344 c . . . . . 7.892e-03 . . . 0.0022 0.0072 0.0038 0.0004 0.0039 0.0100 0.0101 0.0085 0.0022 0.0079 0.0038 0.0003 0.0050 0.0109 0.0116 0.0085 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.748 . . exonic exonic exonic . . 0.577 0.0038 . . . 0.32 0.18 182 ENSG00000105397 TYK2 TYK2 . . . 0.999 0.398 . 484 0.0074489 64976 465 0.00775181 59986 Uncertain_significance . 0 . 0.477 . . . . . . . . . 37 . 0.784 . . 0.825 . . . 0.836 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.678 . . 0 0 0 0 1 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.606 . 0.471 . HET 0 rs55762744 . . . . . . . 0.003663003663003663 0.0 0.0055248618784530384 0.0 0.0079155672823219 13.4798 0.00214 . IV.66 IV.66 . 0.030000 . . . . 0.008381 . 0.570 . . IV.66 0.0018 0.0074 0.0037 0.0056 5.805e-05 0.0043 0.0110 0.0080 0.0083 0.0023 0.0067 0.0036 0.0033 0 0.0054 0.0108 0.0041 . . 0.609 . 2.309 2.309000 . . 0.030000 . . 1.0E-255 0.994 0.380 . 0.165 0.905 . 0.599 . 0.419 2.309 0.868 0.011 rs55762744 rs55762744 rs55762744 rs55762744 1 1538 10 1/0 0,255,255 +rs150028004 19 10505961 C T - CDC37 1735 Cell division cycle 37 homolog (S. cerevisiae) NM_007065.3 -1 1671 1137 NP_008996.1 Q16543 substitution synonymous exon GRCh37 10505961 10505961 Chr19(GRCh37):g.10505961C>T 546 546 NM_007065.3:c.546G>A p.Val182= p.Val182Val 4 605065 -58 5' 92.583 10.0326 0.987705 8.67264 92.583 10.0326 0.987705 7.93662 0 Cryptic Donor Strongly Activated 10505964 III.71 0.048357 71.1743 6.72735 0.750352 75.5367 Cdc37, Hsp90 binding rs150028004 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000431 0.000042 0.000029 0.000000 0.000000 0.000000 0.000700 0.001086 0.000155 0.001086 119 1 1 0 0 0 88 28 1 276022 23972 34384 10112 18862 30772 125676 25792 6452 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 119 1 1 0 0 0 88 28 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8595 4406 13001 5 0 5 0.000581395 0 0.000384438 0.000581395 0 0.000384438 219 transition G A G>A 1.000 0.448 V Val GTG 0.468 V Val GTA 0.114 182 255 PASS . . . . . . 0.0002 . . 0.001 . . CDC37:uc002mof.1:exon4:c.G546A:p.V182V CDC37:NM_007065:exon4:c.G546A:p.V182V . . 0.4813084 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 214.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V182|CDC37|mRNA|CODING|NM_007065|NM_007065.ex.4) . 0.0004 0.0006 . 0.0004 0.0006 . I.20 . . . . . . . . 4.893e-04 . . . 9.731e-05 0.0003 0 0 0.0018 0.0005 0 0 0 0.0004 0 0 0.0015 0.0006 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.53 0.25 182 ENSG00000105401 CDC37 CDC37 . . . . . . 15 0.000230854 64976 14 0.000233388 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150028004 . . . . . . . . . . . . . . . . . . . . . . . 0.000384 . . . . . 6.561e-05 0.0004 2.981e-05 0 0 0.0010 0.0007 0.0002 0 0 0.0006 0 0 0 0.0017 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs150028004 rs150028004 1 1538 10 1/0 0,224,241 +rs138606386 19 10657871 C T - ATG4D 20789 Autophagy related 4D, cysteine peptidase NM_032885.5 1 1978 1425 NP_116274.3 Q86TL0 substitution synonymous exon GRCh37 10657871 10657871 Chr19(GRCh37):g.10657871C>T 777 777 NM_032885.5:c.777C>T p.Ala259= p.Ala259Ala 5 611340 7 3' 82.2851 XII.86 0.948365 8.56039 82.2851 XII.86 0.944352 8.244 -0.0014105 Peptidase C54 rs138606386 yes no Frequency/1000G 2 C 0.000000 0 0.002995 0.000800 0.003100 0.000000 0.009900 0.001400 0.006426 0.001751 0.003721 0.017762 0.000000 0.004323 0.009574 0.001402 0.007604 0.017762 1777 42 128 180 0 133 1209 36 49 276534 23986 34400 10134 18846 30766 126286 25672 6444 0.000065 0.000083 0.000000 0.000197 0.000000 0.000065 0.000079 0.000000 0.000310 9 1 0 1 0 1 5 0 1 1759 40 128 178 0 131 1199 36 47 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8506 4399 12905 94 7 101 0.0109302 0.00158874 0.00776565 0.0109302 0.00158874 0.00776565 47 transition C T C>T 0.008 -3.346 A Ala GCC 0.403 A Ala GCT 0.263 259 255 PASS . 0.0032 . . 0.01 0.0008 0.003 0.0014 . 0.0099 0.0031 . . . . . 0.4903226 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 155.0 . . . 0.0016 0.0078 0.011 0.0016 0.0078 0.011 . 0.0480 . . . . . . . . 6.811e-03 . . . 0.0022 0.0070 0.0049 0.0002 0.0019 0.0111 0.0119 0.0046 0.0019 0.0068 0.0048 0.0003 0.0022 0.0101 0.0075 0.0047 nonsynonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0030 . . . 0.41 0.24 182 ENSG00000130734 ATG4D ATG4D . . . . . . 442 0.00680251 64976 428 0.007135 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138606386 . . . . . . . . . . . . . . . . . . . . . . . 0.007766 . . . . . 0.0020 0.0065 0.0037 0.0179 0 0.0014 0.0096 0.0086 0.0043 0.0014 0.0055 0.0048 0.0132 0 0.0017 0.0094 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138606386 rs138606386 1 1538 10 1/0 0,242,255 +rs140144406 19 10665175 T G - ATG4D 20789 Autophagy related 4D, cysteine peptidase NM_032885.5 1 1978 1425 NP_116274.3 Q86TL0 substitution downstream GRCh37 10665175 10665175 Chr19(GRCh37):g.10665175T>G *1432 *1432 NM_032885.5:c.*1432T>G p.? p.? 10 611340 1615 3' 85.9919 XII.12 0.976967 XI.31 85.9919 XII.12 0.976967 XI.31 0 rs140144406 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000711 0.000000 0.002387 0.000000 0.000000 0.000000 0.000933 0.001719 0.000000 0.002387 22 0 2 0 0 0 14 6 0 30964 8728 838 302 1618 0 15006 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 2 0 0 0 14 6 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T G T>G 0.000 -0.037 255 PASS . 0.0005 . . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.47368422 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . 0.5443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.35 0.29 182 ENSG00000129347 KRI1 KRI1 . . . . . . 15 0.000230854 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs140144406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0.0024 0 0 0.0017 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs140144406 rs140144406 1 1538 10 1/0 0,255,255 +rs140144406 19 10665175 T G - KRI1 25769 KRI1 homolog NM_023008.3 -1 3005 2130 NP_075384.3 substitution intron GRCh37 10665175 10665175 Chr19(GRCh37):g.10665175T>G 1800-218 1800-218 NM_023008.3:c.1800-218A>C p.? p.? 19 18 -218 3' 92.0126 11.306 0.933909 VIII.58 92.0126 11.306 0.933909 VIII.58 0 rs140144406 yes no Frequency/1000G 2 T 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000711 0.000000 0.002387 0.000000 0.000000 0.000000 0.000933 0.001719 0.000000 0.002387 22 0 2 0 0 0 14 6 0 30964 8728 838 302 1618 0 15006 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 2 0 0 0 14 6 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion A C A>C 0.000 -0.037 255 PASS . 0.0005 . . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.47368422 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . 0.5443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.35 0.29 182 ENSG00000129347 KRI1 KRI1 . . . . . . 15 0.000230854 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 5 . . . . . . . . . . HET . rs140144406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0.0024 0 0 0.0017 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs140144406 rs140144406 1 1538 10 1/0 0,255,255 +rs147509697 19 11200282 G A - LDLR 6547 Low density lipoprotein receptor NM_000527.4 1 5284 2583 NP_000518.1 P01130 substitution missense exon GRCh37 11200282 11200282 Chr19(GRCh37):g.11200282G>A 58 58 NM_000527.4:c.58G>A p.Gly20Arg p.Gly20Arg 1 606945 -10 5' 94.9812 11.083 0.998308 12.1563 94.9812 11.083 0.998308 XII.73 0 New Acceptor Site 11200284 0.044266 6.4e-05 61.9694 rs147509697 yes no Frequency/1000G 2 G uncertain_significance,not_provided 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.000743 0.000086 0.000292 0.002402 0.000000 0.000033 0.001066 0.001087 0.000945 0.002402 202 2 10 24 0 1 132 27 6 271788 23266 34244 9992 18760 30558 123784 24834 6350 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 202 2 10 24 0 1 132 27 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8587 4402 12989 9 0 9 0.001047 0 0.000692414 0.001047 0 0.000692414 18 RCV000211611.6|RCV000161949.1|RCV000148577.1 germline|germline|germline|germline|inherited|germline|germline|germline|not applicable|germline research|clinical testing|literature only|research|clinical testing|clinical testing|research|research|in vitro|research Conflicting interpretations of pathogenicity|Not provided|VUS 1|0|1 Familial hypercholesterolemia|not provided|Hypercholesterolaemia CM022807 Hypercholesterolaemia 12436241 DM? transition G A G>A 0.000 0.125 G Gly GGG 0.250 R Arg AGG 0.207 20 11 6 Horse -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.23 III.75 good 2.958E-2 0.5468 255 PASS . . . . . . 0.0006 0.0014 . 0.002 . . . . . . 0.46875 . . germline 15 . . 1.2.2016 0 1 0 0 1 0 0 0 0 1 0 0 . . . . . . 0.190 . Uncertain//\@significance//\%//\@not//\@provided//\%//\@Conflicting//\@interpretations//\@of//\@pathogenicity Uncertain_significance|not_provided|other RCV000148577.1|RCV000161949.1|RCV000211611.4 Hypercholesterolaemia|not_provided|Familial_hypercholesterolemia MedGen|MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT C0020443|CN221809|C0020445:143890:397915002:398036000 1 0.308 . . 32.0 . . . . 0.0007 0.001 . 0.0007 0.001 . -0.9070 -0.969 -0.907 c . . . . . 8.851e-04 . . . 0.0001 0.0009 0.0003 0 0.0020 0.0017 0 6.76e-05 0 0.0010 0.0003 0 0.0020 0.0016 0 6.794e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.900 . . exonic exonic exonic . . 0.150 0.0006 . . . 0.44 0.23 182 ENSG00000130164 LDLR LDLR . . . 1.000 0.747 . 22 0.000338587 64976 19 0.000316741 59986 Likely_benign . 0 . 0.016 . . . . D 0.861 0.189 . . 37 . 0.843 . . 0.732 . . . 0.446 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.397 . . 0 0 0 0 1 0 . 0.315 . . 0.290 . . . . . . 0 0.721 . . . . . 0.063 . 0.671 . HET 0.01 rs147509697 . . . . CLINSIG\x3dunknown|untested\x3bCLNDBN\x3dHypercholesterolaemia|not_provided\x3bCLNREVSTAT\x3dsingle|not\x3bCLNACC\x3dRCV000148577.1|RCV000161949.1\x3bCLNDSDB\x3dMedGen|MedGen\x3bCLNDSDBID\x3dC0020443|CN221809 CLINSIG\x3dunknown|untested\x3bCLNDBN\x3dHypercholesterolaemia|not_provided\x3bCLNREVSTAT\x3dno_assertion_criteria_provided|no_assertion_provided\x3bCLNACC\x3dRCV000148577.1|RCV000161949.1\x3bCLNDSDB\x3dMedGen|MedGen\x3bCLNDSDBID\x3dC0020443|CN221809 . . . . . . III.25 0.0 . III.67 0.318 . 0.160000 . . . . 0.000692 . 0.698 . . . 0 0.0008 0.0002 0.0024 0 0.0010 0.0011 0.0009 3.272e-05 0.0002 0.0007 0.0024 0.0033 0 0.0017 0.0006 0.0010 . . 0.072 . 0.177 0.177000 . . 0.160000 . . 1.0E-255 0.320 0.253 . 0.192 0.012 . 0.297 . 0.713 0.177 0.630 0.001 . . rs147509697 rs147509697 1 1538 10 1/0 0,255,255 +. 19 11314807 CTGGGGATGAGG C - DOCK6 19189 Dedicator of cytokinesis 6 NM_020812.3 -1 6400 6144 NP_065863.2 Q96HP0 deletion intron GRCh37 11314808 11314818 Chr19(GRCh37):g.11314808_11314818del 5221-47 5221-37 NM_020812.3:c.5221-47_5221-37del p.? p.? 41 40 614194 -37 3' 85.1444 12.0188 0.988762 16.5631 85.1444 12.0188 0.988762 17.3172 0 11314814 -92.8342 CCTCATCCCCA 255 Pass . . . . . . . . . . . . . . . . 0.3529412 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . INTRON(MODIFIER||||DOCK6|mRNA|CODING|NM_020812|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000267082 DOCK6 DOCK6 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,45 +. 19 11517108 A ATCCACTTCTCCAGCCGCTGCGCC - RGL3 30282 Ral guanine nucleotide dissociation stimulator-like 3 NM_001161616.2 -1 2561 2151 NP_001155088.2 duplication frameshift exon GRCh37 11517108 11517109 Chr19(GRCh37):g.11517109_11517131dup 960 982 NM_001161616.2:c.960_982dup p.Ile328Argfs*46 p.Ile328Argfs*46 7 616743 -14 5' 85.464 6.99123 0.704335 13.0722 85.464 6.99123 0.704335 XII.64 0 Guanine-nucleotide dissociation stimulator CDC25 rs766587280 yes no Frequency 1 0.000000 0 0.000156 0.000066 0.000000 0.000000 0.000000 0.000000 0.000271 0.000552 0.000220 0.000552 25 1 0 0 0 0 17 6 1 160644 15088 24608 8192 11918 22598 62830 10864 4546 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 1 0 0 0 0 17 6 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes GGCGCAGCGGCTGGAGAAGTGGA 255 Pass . . . . . . . . . . . . . . . . 0.28947368 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 38 . . . . . . . . . . . . . . . . . . . 7.446e-05 . . . 0 9.084e-05 0 0 0 0.0003 0 0 0 0 0 0 0 0 0 0 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000205517 RGL3 RGL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs766587280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0.0003 0.0003 0 0 0.0001 0.0003 0 0 0 0.0011 0.0002 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,54 +rs146331903 19 13260240 A G - IER2 28871 Immediate early response 2 NM_004907.2 1 2050 672 NP_004898.2 Q9BTL4 substitution upstream GRCh37 13260240 13260240 Chr19(GRCh37):g.13260240A>G -1370 -1370 NM_004907.2:c.-1370A>G p.? p.? 1 -1127 5' 74.9268 II.66 0.811523 0 74.9268 II.66 0.811523 0 0 rs146331903 no no 0 A 0.000000 0 transition A G A>G 0.000 -2.458 247 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.8234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.4 182 ENSG00000104915 STX10 STX10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146331903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . rs73006879 rs146331903 rs146331903 1 1538 10 1/0 0,255,255 +rs146331903 19 13260240 A G - STX10 11428 Syntaxin 10 NM_003765.2 -1 1303 750 NP_003756.1 O60499 substitution intron GRCh37 13260240 13260240 Chr19(GRCh37):g.13260240A>G 300+73 300+73 NM_003765.2:c.300+73T>C p.? p.? 3 3 603765 73 5' 85.0987 7.19963 0.889289 7.32081 85.0987 7.19963 0.889289 VII.14 0 rs146331903 no no 0 A 0.000000 0 transition T C T>C 0.000 -2.458 247 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.8234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.4 182 ENSG00000104915 STX10 STX10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146331903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . rs73006879 rs146331903 rs146331903 1 1538 10 1/0 0,255,255 +. 19 13317491 TA T - CACNA1A 1388 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit NM_023035.2 -1 8646 7539 NP_075461.2 deletion 3'UTR GRCh37 13317491 13317491 Chr19(GRCh37):g.13317491del *636 *636 NM_023035.2:c.*636del p.? p.? 48 601011 1377 3' 82.1784 7.74275 0.869404 7.84032 82.1784 7.74275 0.869404 7.84032 0 A 255 Pass . . . . . . . . . . . . . . . . 0.5555556 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . . . . . . . . ENSG00000141837 CACNA1A CACNA1A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,26 +. 19 13323641 T TCC - CACNA1A 1388 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit NM_023035.2 -1 8646 7539 NP_075461.2 insertion intron GRCh37 13323641 13323642 Chr19(GRCh37):g.13323641_13323642insCC 5959-88 5959-87 NM_023035.2:c.5959-88_5959-87insGG p.? p.? 42 41 601011 -87 3' 79.7083 11.1543 0.925213 XI.93 79.7083 11.1543 0.925213 XI.93 0 GG 255 Pass . . . . . . . . . . . . . . . . 0.5925926 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000141837 CACNA1A CACNA1A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,23 +. 19 14037233 C T - CC2D1A 30237 Coiled-coil and C2 domain containing 1A NM_017721.4 1 3640 2856 NP_060191.3 Q6P1N0 substitution intron GRCh37 14037233 14037233 Chr19(GRCh37):g.14037233C>T 1941-97 1941-97 NM_017721.4:c.1941-97C>T p.? p.? 18 17 610055 -97 3' 66.4742 1.88176 0.007431 0 66.4742 1.88176 0.007431 0 0 rs994045572 no no 0 C 0.000000 0 0.000129 0.000115 0.000000 0.000000 0.000000 0.000000 0.000200 0.000000 0.000000 0.000200 4 1 0 0 0 0 3 0 0 30918 8720 838 302 1616 0 14982 3482 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition C T C>T 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.575 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . 0.0348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000132024 CC2D1A CC2D1A . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs374628776 19 14067078 A T - DCAF15 25095 DDB1 and CUL4 associated factor 15 NM_138353.3 1 2296 1803 NP_612362.2 Q66K64 substitution splice site GRCh37 14067078 14067078 Chr19(GRCh37):g.14067078A>T 613+4 613+4 NM_138353.3:c.613+4A>T p.? p.? 5 5 4 5' 90.6189 10.0684 0.972157 15.6925 80.4452 6.34467 0.824781 8.92983 -0.211236 rs374628776 yes no Frequency 1 A 0.000000 0 0.000128 0.000042 0.000000 0.000000 0.000000 0.000033 0.000257 0.000039 0.000000 0.000257 35 1 0 0 0 1 32 1 0 273778 23758 34344 9998 18772 30704 124316 25490 6396 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 1 0 0 0 1 32 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4402 12999 1 0 1 0.000116306 0 7.69231e-05 0.000116306 0 7.69231e-05 30 transversion A T A>T 0.992 2.062 255 PASS . . . . . . . . . . . . . . . . 0.42783505 . . @ 166 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 388.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . 1.0538 . . . . . . . . 1.345e-04 . . . 0 5.79e-05 0 0 0 0.0001 0 0 0 0.0002 0 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.24 182 ENSG00000132017 DCAF15 DCAF15 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374628776 . . . . . . . . . . . . . . . . . . . . 0.8291 0.47 . 0.000077 . . . . III.34 0 0.0001 0 0 0 4.545e-05 0.0003 0 3.257e-05 0.0001 9.73e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs374628776 rs374628776 1 1538 10 1/0 0,197,227 +rs10406537 19 14091543 T C - RFX1 9982 Regulatory factor X, 1 (influences HLA class II expression) NM_002918.4 -1 4377 2940 NP_002909.4 P22670 substitution intron GRCh37 14091543 14091543 Chr19(GRCh37):g.14091543T>C 622-42 622-42 NM_002918.4:c.622-42A>G p.? p.? 6 5 600006 -42 3' 86.6739 XI.19 0.953286 XI.86 86.6739 XI.19 0.953286 11.908 0 rs10406537 yes no Frequency/1000G 2 T 0.000000 0 0.374800 0.410000 0.390600 0.390900 0.332000 0.324200 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.000135 2 0 0 0 0 0 2 0 0 30696 8644 838 300 1604 0 14864 3478 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition A G A>G 0.000 -2.054 181 PASS . . . . . 0.41 0.37 0.32 0.39 0.33 0.39 . . . . . 0.11486486 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . INTRON(MODIFIER||||RFX1|mRNA|CODING|NM_002918|) . . . . . . . 0.0860 . . . . . . . . 4.120e-04 . . . 0.0003 0.0006 0 0 0.0020 0.0007 0 0.0006 0.0003 0.0005 0 0 0.0015 0.0006 0 0.0006 . . . . . . intronic intronic intronic . . . 0.3748 . . . 0.39 0.16 182 ENSG00000132005 RFX1 RFX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs10406537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.516e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs10406537 rs10406537 rs10406537 rs10406537 1 1538 10 1/0 0,211,255 +rs72997461 19 14091556 A G - RFX1 9982 Regulatory factor X, 1 (influences HLA class II expression) NM_002918.4 -1 4377 2940 NP_002909.4 P22670 substitution intron GRCh37 14091556 14091556 Chr19(GRCh37):g.14091556A>G 622-55 622-55 NM_002918.4:c.622-55T>C p.? p.? 6 5 600006 -55 3' 86.6739 XI.19 0.953286 XI.86 86.6739 XI.19 0.953286 XI.42 0 14091554 -24.7594 rs72997461 yes no Frequency/1000G 2 G 0.000000 0 transition T C T>C 0.016 1.174 209 PASS . . . . . . . . . . . . . . . . 0.18382353 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . INTRON(MODIFIER||||RFX1|mRNA|CODING|NM_002918|) . . . . . . . 0.6708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.29 0.25 182 ENSG00000132005 RFX1 RFX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs72997461 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . II.79 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . 0.033 . rs72997461 rs72997461 rs72997461 1 1538 10 1/0 0,220,255 +. 19 14593828 AG A - GIPC1 1226 GIPC PDZ domain containing family, member 1 NM_005716.3 -1 1946 1002 NP_005707.1 O14908 deletion intron GRCh37 14593829 14593829 Chr19(GRCh37):g.14593829del -41 -41 NM_005716.3:c.-30-11del p.? p.? 4 3 605072 -11 3' 87.3464 X.23 0.935624 XII.86 87.8882 11.III 0.946813 XII.17 0.0214735 rs140063653 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.007000 0.001400 0.003018 0.000321 0.001748 0.000113 0.000054 0.000000 0.004478 0.008346 0.004440 0.008346 736 7 57 1 1 0 489 155 26 243898 21836 32606 8874 18360 28602 109192 18572 5856 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000073 0.000000 0.000000 4 0 0 0 0 0 4 0 0 728 7 57 1 1 0 481 155 26 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 6556 3254 9810 26 0 26 0.00395017 0 0.00264335 0.00395017 0 0.00264335 11 C 255 Pass . . . . . . 0.0016 0.0014 . 0.007 . . . . . . 0.45454547 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 66 . . . . 0.0027 0.004 . 0.0026 0.004 . . . . . . . . . . 2.780e-03 . . . 0.0001 0.0025 0.0016 0 0.0101 0.0039 0.0052 0 0.0002 0.0031 0.0015 0 0.0088 0.0045 0.0034 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000123159 GIPC1 GIPC1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140063653 . . . . . . . . . . . . . . . . . . . . . . . 0.002650 . . . . . 0.0003 0.0029 0.0017 0.0001 5.974e-05 0.0083 0.0043 0.0035 0 0.0003 0.0041 0.0024 0 0 0.0086 0.0055 0.0092 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs140063653 rs140063653 1 1538 10 1.I 0,12,34 +rs45472901 19 14884959 C T - ADGRE2 3337 Adhesion G protein-coupled receptor E2 NM_013447.3 -1 6467 2472 NP_038475.2 Q9UHX3 substitution intron GRCh37 14884959 14884959 Chr19(GRCh37):g.14884959C>T 83-93 83-93 NM_013447.3:c.83-93G>A p.? p.? 4 3 606100 -93 3' 88.1591 XI.93 0.960243 14.1616 88.1591 XI.93 0.960243 14.1616 0 rs45472901 yes no Frequency/1000G 2 C 0.000000 0 0.011781 0.028000 0.010200 0.005000 0.005000 0.002900 0.007508 0.013242 0.002415 0.010490 0.001264 0.000000 0.004663 0.009390 0.007338 0.013242 226 112 2 3 2 0 68 32 7 30100 8458 828 286 1582 0 14584 3408 954 0.004425 0.008929 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 224 110 2 3 2 0 68 32 7 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition G A G>A 0.000 -0.360 216 PASS . . . . . 0.028 0.012 0.0029 0.005 0.005 0.01 . . . . . 0.20588236 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . . . . . . . . -0.2032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0118 . . . 0.17 0.12 182 ENSG00000127507 EMR2 ADGRE2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45472901 0.065 0.043 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv509722 . . . . . . . . . . . . . . . 0.0132 0.0075 0.0024 0.0105 0.0013 0.0094 0.0047 0.0073 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.065 rs45472901 rs45472901 rs45472901 rs112453146 1 1538 10 1/0 0,255,255 +rs201424847 19 15839047 T C - OR10H2 8173 Olfactory receptor, family 10, subfamily H, member 2 NM_013939.2 1 1029 948 NP_039227.1 O60403 substitution missense exon GRCh37 15839047 15839047 Chr19(GRCh37):g.15839047T>C 194 194 NM_013939.2:c.194T>C p.Val65Ala p.Val65Ala 1 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs201424847 yes no Frequency 1 C 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000053 0.000000 0.000008 0.000000 0.000000 0.000053 2 0 0 0 1 0 1 0 0 276920 24000 34418 10150 18870 30780 126462 25786 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.882 0.125 V Val GTC 0.240 A Ala GCC 0.403 65 5 1 0 0 -1 0 0 5.IX 8.I 84 31 64 C0 85.32 0.00 Tolerated 0.94 IV.32 good 3.672E-1 0.03597 231 PASS . . . . . . . . . . . ENSG00000171942:ENST00000305899:exon1:c.T194C:p.V65A OR10H2:uc002nbm.2:exon1:c.T194C:p.V65A OR10H2:NM_013939:exon1:c.T194C:p.V65A . . 0.24379233 . . @ 108 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.006 . . 443.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gCc|V65A|OR10H2|mRNA|CODING|NM_013939|NM_013939.ex.1) . . . . . . . -0.9584 -0.878 -0.958 c . . . . . 7.892e-06 . . . 0 1.102e-05 0 0 0 2.374e-05 0 0 0 9.418e-06 0 0 0 1.841e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.271 @ . . . 0.28 0.18 182 ENSG00000171942 OR10H2 OR10H2 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.257 . . . . T 0.038 0.002 . . 37 . 0.018 . . 0.482 . . . 0.123 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.020 . . . . . 0.145 . 0.091 . HET 1 rs201424847 . . . . . . . . . . . . V.85 . ENST00000305899 3.IV II.24 . 0.540000 O60403 . . . . . 0.042 . . II.24 0 4.065e-06 0 0 0 0 8.97e-06 0 0 0 3.236e-05 0 0 0.0006 0 0 0 . . 0.246 . 0.427 0.427000 . . 0.540000 . . 1.0E-231 0.000 0.063 . 0.100 0.741 . 0.154 . 0.108 0.427 -0.206 . . . rs74729097 rs201424847 1 1538 10 1/0 0,174,234 +rs550458906 19 16625246 G T - C19orf44 26141 Chromosome 19 open reading frame 44 NM_032207.3 1 3446 1974 NP_115583.1 Q9H6X5 substitution intron GRCh37 16625246 16625246 Chr19(GRCh37):g.16625246G>T 1736-62 1736-62 NM_032207.3:c.1736-62G>T p.? p.? 7 6 -62 3' 0 0 5,00E-06 0 0 0 5,00E-06 0 0 Cryptic Donor Strongly Activated 16625240 2.98627 0.060928 68.5693 6.59605 0.362844 73.5881 rs550458906 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000459 0.001386 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.001386 14 12 0 0 0 0 2 0 0 30534 8656 810 302 1616 0 14784 3400 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 12 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transversion G T G>T 0.008 0.609 255 PASS . . . . . 0.0023 0.0006 . . . . . . . . . 0.6296296 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.0710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . . C19orf44 C19orf44 . . . . . . 5 7.69515e-05 64976 2 3.33411e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs550458906 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv911167 . . . . . . . . . . . . . . . 0.0014 0.0005 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs550458906 19 16625246 G T - CALR3 20407 Calreticulin 3 NM_145046.4 -1 1292 1155 NP_659483.2 Q96L12 substitution upstream LRG_422 118770 118770 LRG_422:g.118770C>A -18306 -18306 NM_145046.4:c.-18306C>A p.? p.? 1 611414 -18397 5' 75.4126 4.40925 0.122378 3.64581 75.4126 4.40925 0.122378 3.64581 0 rs550458906 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000459 0.001386 0.000000 0.000000 0.000000 0.000000 0.000135 0.000000 0.000000 0.001386 14 12 0 0 0 0 2 0 0 30534 8656 810 302 1616 0 14784 3400 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 12 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transversion C A C>A 0.008 255 PASS . . . . . 0.0023 0.0006 . . . . . . . . . 0.6296296 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.0710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0006 . . . . . . . C19orf44 C19orf44 . . . . . . 5 7.69515e-05 64976 2 3.33411e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs550458906 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv911167 . . . . . . . . . . . . . . . 0.0014 0.0005 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs368087931 19 16653217 G C - CALR3 20407 Calreticulin 3 NM_145046.4 -1 1292 1155 NP_659483.2 Q96L12 substitution upstream LRG_422 90799 90799 LRG_422:g.90799C>G -46277 -46277 NM_145046.4:c.-46277C>G p.? p.? 1 611414 -46368 5' 75.4126 4.40925 0.122378 3.64581 75.4126 4.40925 0.122378 3.64581 0 rs368087931 yes no Frequency 1 G 0.000000 0 0.000192 0.000129 0.000104 0.000000 0.000000 0.000000 0.000324 0.000000 0.000000 0.000324 25 2 1 0 0 0 22 0 0 130066 15512 9600 1784 8044 7226 67974 17456 2470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 2 1 0 0 0 22 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8189 3794 11983 3 0 3 0.000366211 0 0.000250292 0.000366211 0 0.000250292 11 transversion C G C>G 0.969 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . UTR_5_PRIME(MODIFIER||||CHERP|mRNA|CODING|NM_006387|NM_006387.ex.1) . 0.0003 0.0004 . 0.0003 0.0004 . II.51 . . . . . . . . 1.481e-04 . . . 0.0002 0.0003 0 0 0 0.0005 0 0 0 0.0001 0.0001 0 0 0.0002 0 0 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.53 0.36 182 ENSG00000085872 CHERP CHERP . uc002nei.1:c.-28C>G NM_006387:c.-28C>G . . . 12 0.000184684 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368087931 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv911167 0.000250 . . . . . 0.0001 0.0002 0.0001 0 0 0 0.0003 0 0 0.0001 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs368087931 rs368087931 1 1538 10 1/0 0,251,255 +rs368087931 19 16653217 G C - CHERP 16930 Calcium homeostasis endoplasmic reticulum protein NM_006387.5 -1 4095 2751 NP_006378.3 Q8IWX8 substitution 5'UTR GRCh37 16653217 16653217 Chr19(GRCh37):g.16653217G>C -28 -28 NM_006387.5:c.-28C>G p.? p.? 1 -53 5' 81.491 7.22671 0.920763 XI.37 81.491 7.22671 0.920763 11.472 0 rs368087931 yes no Frequency 1 G 0.000000 0 0.000192 0.000129 0.000104 0.000000 0.000000 0.000000 0.000324 0.000000 0.000000 0.000324 25 2 1 0 0 0 22 0 0 130066 15512 9600 1784 8044 7226 67974 17456 2470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 2 1 0 0 0 22 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8189 3794 11983 3 0 3 0.000366211 0 0.000250292 0.000366211 0 0.000250292 11 transversion C G C>G 0.969 0.205 255 PASS . . . . . . . . . . . . . . . . 0.5 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 122.0 . . UTR_5_PRIME(MODIFIER||||CHERP|mRNA|CODING|NM_006387|NM_006387.ex.1) . 0.0003 0.0004 . 0.0003 0.0004 . II.51 . . . . . . . . 1.481e-04 . . . 0.0002 0.0003 0 0 0 0.0005 0 0 0 0.0001 0.0001 0 0 0.0002 0 0 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.53 0.36 182 ENSG00000085872 CHERP CHERP . uc002nei.1:c.-28C>G NM_006387:c.-28C>G . . . 12 0.000184684 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368087931 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv911167 0.000250 . . . . . 0.0001 0.0002 0.0001 0 0 0 0.0003 0 0 0.0001 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0004 . . rs368087931 rs368087931 1 1538 10 1/0 0,251,255 +rs146980546 19 17000943 C T - F2RL3 3540 Coagulation factor II (thrombin) receptor-like 3 NM_003950.2 1 2731 1158 NP_003941.2 Q96RI0 substitution synonymous exon GRCh37 17000943 17000943 Chr19(GRCh37):g.17000943C>T 669 669 NM_003950.2:c.669C>T p.Ser223= p.Ser223Ser 2 602779 560 3' 83.5728 VII.65 0.889914 9.66363 83.5728 VII.65 0.889914 9.66363 0 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily Protease-activated receptor 4 rs146980546 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000800 0.001000 0.000000 0.001000 0.001400 0.001244 0.000680 0.001214 0.000518 0.001091 0.000067 0.001940 0.000000 0.001003 0.001940 310 15 41 5 20 2 221 0 6 249118 22058 33770 9654 18334 30036 113926 15360 5980 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 1 0 0 0 0 0 1 0 0 308 15 41 5 20 2 219 0 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8534 4371 12905 28 1 29 0.00327026 0.000228728 0.00224215 0.00327026 0.000228728 0.00224215 15 transition C T C>T 0.000 -3.023 S Ser TCC 0.220 S Ser TCT 0.185 223 255 PASS 0.01 0.0027 0.0028 . 0.0026 0.0008 0.0008 0.0014 . 0.001 0.001 ENSG00000127533:ENST00000248076:exon2:c.C669T:p.S223S F2RL3:uc002nfa.3:exon2:c.C669T:p.S223S F2RL3:NM_003950:exon2:c.C669T:p.S223S . . 0.5089286 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 112.0 . . . 0.0002 0.0022 0.0033 0.0002 0.0022 0.0033 . -0.1428 . . . . . . . . 9.975e-04 . . . 0.0006 0.0011 0.0012 0.0007 0 0.0018 0.0021 0.0001 0.0007 0.0012 0.0012 0.0012 0 0.0017 0.0021 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.29 0.51 182 ENSG00000127533 F2RL3 F2RL3 . . . . . . 110 0.00169293 64976 106 0.00176708 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs146980546 . . . . . . . . . . . . . . . . . . . . . . . 0.002242 . . . . . 0.0007 0.0013 0.0012 0.0004 0.0011 0 0.0020 0.0012 6.659e-05 0.0006 0.0011 0.0036 0.0033 0.0012 0 0.0016 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs146980546 rs146980546 1 1538 10 1/0 0,253,255 +. 19 17011950 A AC - CPAMD8 23228 C3 and PZP like, alpha-2-macroglobulin domain containing 8 NM_015692.3 -1 5992 5799 NP_056507.2 duplication intron GRCh37 17011950 17011951 Chr19(GRCh37):g.17011951dup 4914+69 4914+69 NM_015692.3:c.4914+69dup p.? p.? 36 36 608841 69 5' 90.6189 10.0684 0.885514 11.1261 90.6189 10.0684 0.885514 X.82 0 New Donor Site 17011951 2.59506 0.120759 75.8313 rs77345177 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30891 8690 838 302 1616 0 14975 3488 982 30892 8690 838 302 1616 0 14976 3488 982 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15445 4345 419 151 808 0 7487 1744 491 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes G 255 Pass 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 0.97727275 . . . 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 44 . . INTRON(MODIFIER||||CPAMD8|mRNA|CODING|NM_015692|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000160111 CPAMD8 CPAMD8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs386388644 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . . rs77345177 rs77345177 1 1538 255 1.I 0,0,255 +rs1465582 19 17397501 T G - ANKLE1 26812 Ankyrin repeat and LEM domain containing 1 NM_152363.5 1 3218 2010 NP_689576.5 substitution 3'UTR GRCh37 17397501 17397501 Chr19(GRCh37):g.17397501T>G *140 *140 NM_152363.5:c.*140T>G p.? p.? 9 313 3' 89.2398 7.90473 0.928381 9.69579 89.2398 7.90473 0.928381 9.69579 0 rs1465582 yes no Frequency/1000G 2 T 0.000000 0 0.315895 0.310900 0.386500 0.145800 0.441400 0.291100 transversion T G T>G 0.000 -1.812 111 PASS . . . . . 0.31 0.32 0.29 0.15 0.44 0.39 ENSG00000160117:ENST00000598347:exon8:c.T1771G:p.L591V ANKLE1:uc010xpn.1:exon8:c.T1933G:p.L645V ANKLE1:NM_001278444:exon8:c.T1933G:p.L645V . . 0.91588783 . . @ 98 . . 1.2.2016 1 0 0 0 0 0 0 0 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 107.0 . . . . . . . . . . -1.4395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . 0.3159 . . . 0.26 0.59 182 ENSG00000160117 ANKLE1 ANKLE1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM 0 rs1465582 . 0.007 . . . . . . . . . . II.28 . ENST00000438921 1.VII -2.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.836 -1.836000 . . . . . 1.0E-111 . . . . . . . . . -1.836 . . rs1465582 rs1465582 rs1465582 rs1465582 1 1538 10 1.I 170,0,0 +rs61740699 19 18367995 T A - KIAA1683 29350 KIAA1683 NM_001145304.1 -1 4404 4104 NP_001138776.1 substitution missense exon GRCh37 18367995 18367995 Chr19(GRCh37):g.18367995T>A 4099 4099 NM_001145304.1:c.4099A>T p.Ile1367Phe p.Ile1367Phe 4 922 3' 81.5312 4.88455 0.88138 4.27174 81.5312 4.88455 0.88138 4.27174 0 Cryptic Acceptor Strongly Activated 18367989 4.93004 0.568374 67.9583 7.18618 0.934993 73.5897 rs61740699 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000800 0.002000 0.000000 0.011900 0.002900 0.007750 0.002625 0.002964 0.001580 0.000053 0.007278 0.011914 0.006670 0.009452 0.011914 2140 63 102 16 1 224 1505 168 61 276144 24004 34414 10124 18858 30778 126326 25186 6454 0.000058 0.000000 0.000000 0.000000 0.000000 0.000195 0.000047 0.000000 0.000620 8 0 0 0 0 3 3 0 2 2124 63 102 16 1 218 1499 168 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8489 4396 12885 111 10 121 0.012907 0.00226963 0.0093034 0.012907 0.00226963 0.0093034 65 transversion A T A>T 0.000 -0.117 I Ile ATC 0.481 F Phe TTC 0.546 1367 10 1 0 0 -1 0 0 5.II 5.II 111 132 21 C0 353.86 0.00 Deleterious 0.01 III.54 bad 2.722E-3 0.000843 255 PASS 0.002 0.01 . . 0.01 0.0008 0.0034 0.0029 . 0.012 0.002 . . . . . 0.48031497 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.080 . . 127.0 . . . 0.0023 0.0093 0.013 0.0023 0.0093 0.013 . -1.5237 -1.581 -1.524 c . . . . . 7.918e-03 . . . 0.0026 0.0074 0.0028 0 0.0050 0.0110 0.0043 0.0080 0.0024 0.0075 0.0028 0 0.0055 0.0107 0.0014 0.0079 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.041 . . exonic exonic exonic . . 0.106 0.0034 . . . 0.18 0.42 182 ENSG00000130518 KIAA1683 KIAA1683 . . . 0.000 0.029 . 690 0.0106193 64976 673 0.0112193 59986 Likely_benign . 0 . 0.186 . . . . . . . . . 37 . 0.020 . . 0.431 . . . 0.112 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.441 . . 0 0 0 0 0 0 . 0.427 . . 0.436 . . . . . . 0 0.654 . . . . . 0.163 . 0.192 . HET 0 rs61740699 0.011 0.007 . . . . . 0.005036630036630037 0.0020325203252032522 0.0 0.0 0.013192612137203167 V.61 0.00214 . III.87 -0.724 . 0.010000 . . . . 0.009303 . 0.084 . . . 0.0018 0.0078 0.0029 0.0016 0 0.0065 0.0121 0.0088 0.0073 0.0041 0.0077 0.0060 0 0.0006 0.0077 0.0105 0.0132 . . 0.203 . 0.091 0.091000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.054 . 0.001 0.091 -1.121 0.013 rs61740699 rs61740699 rs61740699 rs61740699 1 1538 10 1/0 0,244,255 +rs139869066 19 19030611 G A - COPE 2234 Coatomer protein complex, subunit epsilon NM_007263.3 -1 1134 927 NP_009194.2 O14579 substitution upstream GRCh37 19030611 19030611 Chr19(GRCh37):g.19030611G>A -454 -454 NM_007263.3:c.-454C>T p.? p.? 1 606942 -580 5' 79.5269 8.16693 0.456047 9.02674 79.5269 8.16693 0.456047 9.02674 0 rs139869066 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000800 0.000000 0.000000 0.006000 0.002900 0.007098 0.002139 0.006193 0.028778 0.000053 0.001690 0.009410 0.004191 0.009161 0.028778 1959 51 213 291 1 52 1184 108 59 275998 23848 34392 10112 18834 30776 125828 25768 6440 0.000094 0.000000 0.000116 0.000593 0.000000 0.000000 0.000095 0.000000 0.000621 13 0 2 3 0 0 6 0 2 1933 51 209 285 1 52 1172 108 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4397 12922 75 9 84 0.00872093 0.00204267 0.00645856 0.00872093 0.00204267 0.00645856 32 transition C T C>T 1.000 5.613 255 PASS . 0.0018 0.01 . 0.0026 0.0008 0.0018 0.0029 . 0.006 . . DDX49:uc002nkq.2:exon1:c.G61A:p.G21S DDX49:NM_019070:exon1:c.G61A:p.G21S . . 0.488 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.907 . @ . . . . . 1 0.891 . . 125.0 . . . 0.002 0.0065 0.0087 0.002 0.0065 0.0087 . 0.5358 0.613 0.536 c . . . . . 6.619e-03 . . . 0.0026 0.0068 0.0050 0 0.0048 0.0116 0.0073 0.0015 0.0026 0.0066 0.0049 0.0001 0.0049 0.0103 0.0044 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.806 0.0018 . . . 0.68 0.55 182 ENSG00000105671 DDX49 DDX49 . . . 1.0 0.983 . 575 0.00884942 64976 566 0.00943554 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.264 . . 0.070 . . . 0.484 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.796 . . 0 0 0 0 0 0 . 0.450 . . 0.431 . . . . . . 0 0.473 . . . . . 0.887 . 0.705 . HET 0.01 rs139869066 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 17.8898 0.001338 ENST00000247003 V.48 V.48 . 0.010000 Q9Y6V7 . . . 0.006459 . 0.796 . . V.48 0.0021 0.0072 0.0061 0.0284 5.81e-05 0.0045 0.0095 0.0095 0.0017 0.0022 0.0061 0.0095 0.0397 0 0.0023 0.0091 0.0071 . . 0.072 . 2.575 2.575000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.909 . 0.665 2.575 0.917 0.01 . . rs139869066 rs139869066 1 1538 10 1/0 0,246,255 +rs139869066 19 19030611 G A - DDX49 18684 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 NM_019070.4 1 1836 1452 NP_061943.2 Q9Y6V7 substitution missense exon GRCh37 19030611 19030611 Chr19(GRCh37):g.19030611G>A 61 61 NM_019070.4:c.61G>A p.Gly21Ser p.Gly21Ser 1 -55 5' 86.3702 9.25272 0.991729 XII.15 86.3702 9.25272 0.991729 XII.76 0 DEAD-like helicase RNA helicase, DEAD-box type, Q motif rs139869066 yes no Frequency/1000G 2 G 0.000000 0 0.001797 0.000800 0.000000 0.000000 0.006000 0.002900 0.007098 0.002139 0.006193 0.028778 0.000053 0.001690 0.009410 0.004191 0.009161 0.028778 1959 51 213 291 1 52 1184 108 59 275998 23848 34392 10112 18834 30776 125828 25768 6440 0.000094 0.000000 0.000116 0.000593 0.000000 0.000000 0.000095 0.000000 0.000621 13 0 2 3 0 0 6 0 2 1933 51 209 285 1 52 1172 108 55 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8525 4397 12922 75 9 84 0.00872093 0.00204267 0.00645856 0.00872093 0.00204267 0.00645856 32 transition G A G>A 1.000 5.613 G Gly GGT 0.162 S Ser AGT 0.149 21 11 10 Tetraodon 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 79.35 VI.18 Tolerated 0.07 III.58 good 3.27E-1 0.006691 255 PASS . 0.0018 0.01 . 0.0026 0.0008 0.0018 0.0029 . 0.006 . . DDX49:uc002nkq.2:exon1:c.G61A:p.G21S DDX49:NM_019070:exon1:c.G61A:p.G21S . . 0.488 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.907 . @ . . . . . 1 0.891 . . 125.0 . . . 0.002 0.0065 0.0087 0.002 0.0065 0.0087 . 0.5358 0.613 0.536 c . . . . . 6.619e-03 . . . 0.0026 0.0068 0.0050 0 0.0048 0.0116 0.0073 0.0015 0.0026 0.0066 0.0049 0.0001 0.0049 0.0103 0.0044 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.309 . . exonic exonic exonic . . 0.806 0.0018 . . . 0.68 0.55 182 ENSG00000105671 DDX49 DDX49 . . . 1.0 0.983 . 575 0.00884942 64976 566 0.00943554 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.264 . . 0.070 . . . 0.484 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.796 . . 0 0 0 0 0 0 . 0.450 . . 0.431 . . . . . . 0 0.473 . . . . . 0.887 . 0.705 . HET 0.01 rs139869066 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 17.8898 0.001338 ENST00000247003 V.48 V.48 . 0.010000 Q9Y6V7 . . . 0.006459 . 0.796 . . V.48 0.0021 0.0072 0.0061 0.0284 5.81e-05 0.0045 0.0095 0.0095 0.0017 0.0022 0.0061 0.0095 0.0397 0 0.0023 0.0091 0.0071 . . 0.072 . 2.575 2.575000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.909 . 0.665 2.575 0.917 0.01 . . rs139869066 rs139869066 1 1538 10 1/0 0,246,255 +rs754439112 19 19136149 T A - SUGP2 18641 SURP and G-patch domain containing 2 NM_001321698.1 -1 3606 3291 NP_001308627.1 substitution synonymous exon GRCh37 19136149 19136149 Chr19(GRCh37):g.19136149T>A 1050 1050 NM_001321698.1:c.1050A>T p.Ala350= p.Ala350Ala 3 607993 -722 5' 86.1635 9.33191 0.992652 3.04653 86.1635 9.33191 0.992652 3.04653 0 rs754439112 yes no Frequency 1 T 0.000000 0 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000054 0.000000 0.000000 0.000054 6 0 0 0 0 0 6 0 0 245904 15264 33554 9838 17248 30756 111472 22292 5480 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 67 Exomes transversion A T A>T 0.858 -0.763 A Ala GCA 0.226 A Ala GCT 0.263 350 255 PASS . . . . . . . . . . . . . . . . 0.38297874 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 47.0 . . . . . . . . . . 0.9308 . . . . . . . . 7.893e-06 . . . 0 1.116e-05 0 0 0 2.412e-05 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000064607 SUGP2 SUGP2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754439112 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833778 . . . . . . 0 2.44e-05 0 0 0 0 5.383e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs151213204 19 19257933 G T - BORCS8-MEF2B 39979 BORCS8-MEF2B readthrough NM_005919.3 -1 1952 1098 NP_005910.1 Q02080 substitution synonymous exon GRCh37 19257933 19257933 Chr19(GRCh37):g.19257933G>T 453 453 NM_005919.3:c.453C>A p.Gly151= p.Gly151Gly 7 60 3' 82.8553 X.12 0.823195 9.32019 82.8553 X.12 0.823195 9.26785 0 Cryptic Donor Strongly Activated 19257932 0.000515 52.5792 0.856726 0.002321 61.4934 rs151213204 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.004219 0.000941 0.001190 0.000105 0.000056 0.001690 0.007170 0.005361 0.002677 0.007170 1076 21 38 1 1 49 825 125 16 255020 22326 31922 9566 17844 29002 115066 23318 5976 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000035 0.000000 0.000000 2 0 0 0 0 0 2 0 0 1072 21 38 1 1 49 821 125 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4391 12933 54 7 61 0.00628199 0.00159163 0.00469447 0.00628199 0.00159163 0.00469447 19 transversion C A C>A 0.976 0.932 G Gly GGC 0.342 G Gly GGA 0.246 151 255 PASS . 0.0009 . . 0.0026 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.42307693 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 52.0 . . . 0.0016 0.0047 0.0063 0.0016 0.0047 0.0063 . I.92 . . . . . . . . 4.138e-03 . . . 0.0014 0.0047 0.0013 0 0.0092 0.0081 0.0023 0.0018 0.0015 0.0063 0.0013 0 0.0105 0.0104 0.0026 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.5 0.53 182 . . . . . . . . . 301 0.00463248 64976 296 0.00493448 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151213204 . . . . . . . . . . . . . . . . . . . . . . . 0.004694 . . . . 3.VIII 0.0008 0.0042 0.0012 0.0001 6.164e-05 0.0051 0.0072 0.003 0.0017 0.0011 0.0045 0.0024 0 0 0.0069 0.0069 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0063 . . rs151213204 rs151213204 1 1538 10 1/0 0,255,255 +rs151213204 19 19257933 G T - MEF2B 6995 Myocyte enhancer factor 2B NM_001145785.1 -1 1451 1107 NP_001139257.1 substitution synonymous exon GRCh37 19257933 19257933 Chr19(GRCh37):g.19257933G>T 453 453 NM_001145785.1:c.453C>A p.Gly151= p.Gly151Gly 5 600661 60 3' 82.8553 X.12 0.823195 9.32019 82.8553 X.12 0.823195 9.26785 0 Cryptic Donor Strongly Activated 19257932 0.000515 52.5792 0.856726 0.002321 61.4934 rs151213204 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.003000 0.001400 0.004219 0.000941 0.001190 0.000105 0.000056 0.001690 0.007170 0.005361 0.002677 0.007170 1076 21 38 1 1 49 825 125 16 255020 22326 31922 9566 17844 29002 115066 23318 5976 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000035 0.000000 0.000000 2 0 0 0 0 0 2 0 0 1072 21 38 1 1 49 821 125 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8542 4391 12933 54 7 61 0.00628199 0.00159163 0.00469447 0.00628199 0.00159163 0.00469447 19 transversion C A C>A 0.976 0.932 G Gly GGC 0.342 G Gly GGA 0.246 151 255 PASS . 0.0009 . . 0.0026 . 0.001 0.0014 . 0.003 0.001 . . . . . 0.42307693 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 52.0 . . . 0.0016 0.0047 0.0063 0.0016 0.0047 0.0063 . I.92 . . . . . . . . 4.138e-03 . . . 0.0014 0.0047 0.0013 0 0.0092 0.0081 0.0023 0.0018 0.0015 0.0063 0.0013 0 0.0105 0.0104 0.0026 0.0018 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.5 0.53 182 . . . . . . . . . 301 0.00463248 64976 296 0.00493448 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs151213204 . . . . . . . . . . . . . . . . . . . . . . . 0.004694 . . . . 3.VIII 0.0008 0.0042 0.0012 0.0001 6.164e-05 0.0051 0.0072 0.003 0.0017 0.0011 0.0045 0.0024 0 0 0.0069 0.0069 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0063 . . rs151213204 rs151213204 1 1538 10 1/0 0,255,255 +rs201111194 19 19308293 G A - RFXANK 9987 Regulatory factor X-associated ankyrin-containing protein NM_003721.3 1 1438 783 NP_003712.1 O14593 substitution intron GRCh37 19308293 19308293 Chr19(GRCh37):g.19308293G>A 338-37 338-37 NM_003721.3:c.338-37G>A p.? p.? 6 5 603200 -37 3' 84.8125 XI.27 0.915349 8.38013 84.8125 XI.27 0.915349 VIII.26 0 rs201111194 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.001070 0.000441 0.000850 0.000000 0.000000 0.000201 0.001757 0.001034 0.000485 0.001757 282 10 28 0 0 6 210 25 3 263438 22692 32944 9802 18208 29878 119546 24184 6184 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 280 10 28 0 0 6 208 25 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8589 4401 12990 11 3 14 0.00127907 0.000681199 0.00107659 0.00127907 0.000681199 0.00107659 19 transition G A G>A 0.016 0.690 255 PASS . 0.0009 . . 0.0026 . 0.0006 0.0014 . 0.002 . . . . . . 0.53763443 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . 0.0007 0.0011 0.0013 0.0007 0.0011 0.0013 . 0.0513 . . . . . . . . 9.479e-04 . . . 0.0006 0.0009 0.0005 0 0.0008 0.0017 0 0.0001 0.0006 0.0010 0.0005 0 0.0007 0.0017 0 0.0001 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.29 0.04 182 ENSG00000064490 RFXANK RFXANK . . . . . . 71 0.00109271 64976 68 0.0011336 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs201111194 . . . . . . . . . . . . . . . . . . . . . . . 0.001077 . . . . . 0.0005 0.0011 0.0008 0 0 0.0009 0.0018 0.0006 0.0002 0.0003 0.0010 0.0024 0 0 0.0020 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs201111194 rs201111194 1 1538 10 1/0 0,255,255 +rs45519443 19 19327896 T G - NCAN 2465 Neurocan NM_004386.2 1 6406 3966 NP_004377.2 O14594 substitution intron GRCh37 19327896 19327896 Chr19(GRCh37):g.19327896T>G 73+61 73+61 NM_004386.2:c.73+61T>G p.? p.? 2 2 600826 61 5' 86.3702 9.25272 0.984942 5.11576 86.3702 9.25272 0.984942 4.72471 0 rs45519443 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.006000 0.002900 0.003488 0.001032 0.004773 0.000000 0.000000 0.000000 0.005531 0.002865 0.002037 0.005531 108 9 4 0 0 0 83 10 2 30960 8722 838 302 1620 0 15006 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 108 9 4 0 0 0 83 10 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion T G T>G 0.008 0.125 255 PASS . 0.0023 . . 0.01 . 0.0016 0.0029 . 0.006 . . . . . . 0.49367088 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . INTRON(MODIFIER||||NCAN|mRNA|CODING|NM_004386|) . . . . . . . 0.2032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.56 0.45 182 ENSG00000130287 NCAN NCAN . . . . . . 445 0.00684868 64976 437 0.00728503 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs45519443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0035 0.0048 0 0 0.0029 0.0055 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs45519443 rs45519443 rs45519443 rs45519443 1 1538 10 1/0 0,255,255 +rs113352973 19 19735248 A G - LPAR2 3168 Lysophosphatidic acid receptor 2 NM_004720.5 -1 1796 1056 NP_004711.2 Q9HBW0 substitution synonymous exon GRCh37 19735248 19735248 Chr19(GRCh37):g.19735248A>G 873 873 NM_004720.5:c.873T>C p.Asn291= p.Asn291Asn 3 605110 131 3' 85.1378 XI.39 0.89848 12.0653 85.1378 XI.39 0.89848 12.0653 0 GPCR, rhodopsin-like, 7TM 7TM GPCR, serpentine receptor class sx (Srsx) GPCR, rhodopsin-like superfamily rs113352973 yes no Frequency/1000G 2 A 0.000000 0 0.004393 0.000000 0.000000 0.000000 0.016900 0.007200 0.008291 0.001374 0.003342 0.002365 0.000053 0.003964 0.010657 0.022990 0.009282 0.022990 2297 33 115 24 1 122 1349 593 60 277056 24014 34414 10146 18864 30778 126582 25794 6464 0.000101 0.000000 0.000000 0.000000 0.000000 0.000065 0.000079 0.000543 0.000309 14 0 0 0 0 1 5 7 1 2269 33 115 24 1 120 1339 579 58 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8518 4399 12917 82 7 89 0.00953488 0.00158874 0.006843 0.00953488 0.00158874 0.006843 92 transition T C T>C 1.000 0.448 N Asn AAT 0.464 N Asn AAC 0.536 291 255 PASS . 0.01 0.01 . 0.02 . 0.0044 0.0072 . 0.017 . . . LPAR2:NM_004720:exon3:c.T873C:p.N291N . . 0.48494983 . . @ 145 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 299.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N291|LPAR2|mRNA|CODING|NM_004720|NM_004720.ex.3) 0.0016 0.0068 0.0095 0.0016 0.0068 0.0095 . 0.7049 . . . . . . . . 8.524e-03 . . . 0.0010 0.0067 0.0031 0 0.0226 0.0093 0.0070 0.0045 0.0009 0.0082 0.0031 0 0.0239 0.0109 0.0130 0.0045 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0044 . . . 0.35 0.25 182 ENSG00000064547 LPAR2 LPAR2 . . . . . . 628 0.00966511 64976 606 0.0101024 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113352973 . . . . . . . . . . . . . . . . . . . . . . . 0.006843 . . . . . 0.0010 0.0083 0.0033 0.0022 5.798e-05 0.0232 0.0107 0.0084 0.0040 0.0021 0.0085 0.0036 0.0066 0 0.0218 0.0101 0.0143 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs113352973 rs113352973 1 1538 10 1/0 0,211,229 +rs1266503 (chr19:19735257 G/T) 19 19735257 G T Transcript NM_004720.5: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) LPAR2 +rs73010671 (chr19:20108013 A/C) 19 20108013 A C Not on a known gene +rs77006494 (chr19:20108024 A/G) 19 20108024 A G Not on a known gene +rs113817582 (chr19:20108194 C/T) 19 20108194 C T Not on a known gene +rs796439428 (chr19:20108208 T/C) 19 20108208 T C Not on a known gene +rs796695178 (chr19:20108209 G/A) 19 20108209 G A Not on a known gene +rs796829664 (chr19:20108215 T/G) 19 20108215 T G Not on a known gene +. 19 20510080 A T - MIR1270 35338 MicroRNA 1270 NR_036053.1 -1 83 0 substitution downstream GRCh37 20510080 20510080 Chr19(GRCh37):g.20510080A>T *1 *1 NR_036053.1:n.*1T>A p.? p.? 1 transversion T A T>A 0.028 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.8 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 10.0 . . DOWNSTREAM(MODIFIER||||MIR1270|Non-coding_transcript|NON_CODING|NR_036053|) . . . . . . . -0.3466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic downstream downstream . . . @ . . . 0.38 0.18 182 ENSG00000231205 MIR1270-1 MIR1270 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs2216611 rs2216611 rs2216611 1 1538 10 1/0 0,255,255 +rs2216611 19 20579239 A T - ZNF826P 33875 Zinc finger protein 826, pseudogene NR_036455.1 -1 636 0 substitution intron GRCh37 20579239 20579239 Chr19(GRCh37):g.20579239A>T 256-233 256-233 NR_036455.1:n.256-233T>A p.? p.? 3 2 -233 3' 87.8484 11.0467 0.953731 5.04197 87.8484 11.0467 0.953731 5.04197 0 rs2216611 yes no Frequency/HapMap/1000G 3 0.000000 0 transversion T A T>A 0.803 1.497 255 PASS . . . . . . . . . . . . . . . . 0.64285713 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . . . . . . . . . -0.1248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.42 0.26 182 ENSG00000231205 ZNF826P ZNF826P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs116539467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2216611 rs2216611 rs2216611 rs116539467 1 1538 10 1/0 0,255,255 +rs572982513 19 21203724 G T - ZNF430 20808 Zinc finger protein 430 NM_025189.3 1 3919 1713 NP_079465.3 Q9H8G1 substitution intron GRCh37 21203724 21203724 Chr19(GRCh37):g.21203724G>T 3+115 3+115 NM_025189.3:c.3+115G>T p.? p.? 1 1 115 5' 81.491 7.22671 0.91438 6.90166 81.491 7.22671 0.91438 6.90166 0 Cryptic Acceptor Strongly Activated 21203727 0.000176 63.4163 6.44966 0.175229 68.0616 rs572982513 yes no Frequency/1000G 2 0.000998 T 5 0.000998 0.001500 0.000000 0.000000 0.002000 0.001400 0.002777 0.000573 0.005967 0.000000 0.000000 0.000000 0.004732 0.001431 0.000000 0.005967 86 5 5 0 0 0 71 5 0 30966 8730 838 302 1620 0 15004 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 86 5 5 0 0 0 71 5 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 0.004 0.286 255 PASS . . . . . 0.0015 0.001 0.0014 . 0.002 . . . . . . 0.42944786 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.1582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . . . . ENSG00000118620 ZNF430 ZNF430 . . . . . . 237 0.0036475 64976 232 0.00386757 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0028 0.0060 0 0 0.0014 0.0047 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs767452395 19 22155691 A G - ZNF208 12999 Zinc finger protein 208 NM_007153.3 -1 9088 3843 NP_009084.2 O43345 substitution synonymous exon GRCh37 22155691 22155691 Chr19(GRCh37):g.22155691A>G 2145 2145 NM_007153.3:c.2145T>C p.His715= p.His715His 4 603977 1919 3' 92.8116 9.57129 0.986753 5.47322 92.8116 9.57129 0.986753 5.47322 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs767452395 yes no Frequency 1 A 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 234988 14480 33202 9634 16982 30538 106722 18120 5310 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 120 Exomes transition T C T>C 0.953 -0.682 H His CAT 0.413 H His CAC 0.587 715 187 PASS . . . . . . . . . . . ENSG00000160321:ENST00000397126:exon4:c.T2145C:p.H715H ZNF208:uc021urr.1:exon4:c.T2145C:p.H715H ZNF208:NM_007153:exon4:c.T2145C:p.H715H . . 0.12857144 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 70.0 . . SYNONYMOUS_CODING(LOW|SILENT|caT/caC|H715|ZNF208|mRNA|CODING|NM_007153|NM_007153.ex.4) . . . . . . . 0.1395 . . . . . . . . 2.303e-04 . . . 0.0001 0.0002 0.0003 0.0004 0 0.0002 0 0.0002 0.0001 0.0002 0.0003 0.0004 0 0.0002 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000160321 ZNF208 ZNF208 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs767452395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.256e-06 0 0 0 0 9.37e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs201427226 19 22155696 T C - ZNF208 12999 Zinc finger protein 208 NM_007153.3 -1 9088 3843 NP_009084.2 O43345 substitution missense exon GRCh37 22155696 22155696 Chr19(GRCh37):g.22155696T>C 2140 2140 NM_007153.3:c.2140A>G p.Ile714Val p.Ile714Val 4 603977 1914 3' 92.8116 9.57129 0.986753 5.47322 92.8116 9.57129 0.986753 5.47322 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs201427226 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.961 0.205 I Ile ATT 0.356 V Val GTT 0.178 714 12 7 Zebrafish 3 3 4 0 0 5.II 5.IX 111 84 29 C0 109.43 0.00 Tolerated 1 II.76 bad 7.405E-3 0.0003309 194 PASS . . . . . . . . . . . ENSG00000160321:ENST00000397126:exon4:c.A2140G:p.I714V ZNF208:uc021urr.1:exon4:c.A2140G:p.I714V ZNF208:NM_007153:exon4:c.A2140G:p.I714V . . 0.14492753 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.265 . . 69.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I714V|ZNF208|mRNA|CODING|NM_007153|NM_007153.ex.4) . . . . . . . -0.5375 -0.825 -0.537 c . . . . . 4.606e-04 . . . 0.0005 0.0005 0.0004 0.0006 0 0.0006 0 0.0004 0.0004 0.0004 0.0003 0.0008 0 0.0003 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.010 . . exonic exonic exonic . . 0.106 @ . . . 0.17 0.19 182 ENSG00000160321 ZNF208 ZNF208 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.022 . . 0.450 . . . 0.163 0.212 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.670 . . 0.637 . . . . . . 0 0.119 . . . . . 0.047 . 0.149 . LowAF 0.21 rs201427226 . . . . . . . . . . . . II.11 . . 1.IX -0.727 . 0.200000 O43345 . . . . . 0.120 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.730 -0.730000 . . 0.200000 . . 1.0E-194 0.000 0.063 . 0.043 0.306 . 0.075 . 0.287 -0.730 0.643 . . . rs201427226 rs201427226 1 1538 10 1/0 0,246,255 +rs200459967 19 22155725 C G - ZNF208 12999 Zinc finger protein 208 NM_007153.3 -1 9088 3843 NP_009084.2 O43345 substitution missense exon GRCh37 22155725 22155725 Chr19(GRCh37):g.22155725C>G 2111 2111 NM_007153.3:c.2111G>C p.Trp704Ser p.Trp704Ser 4 603977 1885 3' 92.8116 9.57129 0.986753 5.47322 92.8116 9.57129 0.986753 5.47322 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs200459967 no no 0 C 0.000000 0 0.000048 0.000197 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000197 7 2 0 0 0 0 5 0 0 145960 10172 22314 6060 10898 19418 63426 9976 3696 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.763 W Trp TGG 1.000 S Ser TCG 0.056 704 12 4 Olive baboon -4 -3 -6 0.13 I.42 5.IV 9.II 170 32 177 C0 191.09 0.00 Tolerated 0.42 II.76 good 1.784E-1 0.1817 191 PASS . . . . . . . . . . . ENSG00000160321:ENST00000397126:exon4:c.G2111C:p.W704S ZNF208:uc021urr.1:exon4:c.G2111C:p.W704S ZNF208:NM_007153:exon4:c.G2111C:p.W704S . . 0.13846155 . . @ 9 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.030 . . 65.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tCg|W704S|ZNF208|mRNA|CODING|NM_007153|NM_007153.ex.4) . . . . . . . -1.0081 -1.246 -1.008 c . . . . . . . . . 0.0920 0.0871 0.0782 0.1004 0.0568 0.0872 0.0947 0.0916 0.0793 0.0716 0.0750 0.0857 0.0448 0.0644 0.0764 0.0913 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . 0.046 @ . . . 0.09 0.12 182 ENSG00000160321 ZNF208 ZNF208 . . . 0.000 0.012 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.236 . . 0.212 . . . 0.007 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.414 . . 0 0 0 0 0 0 . 0.390 . . 0.432 . . . . . . 0 0.101 . . . . . 0.076 . 0.218 . LowAF 0.75 rs200459967 . . . . . . . . . . . . III.47 0.063811 . II.43 -3.35 . 0.450000 O43345 . . . . . 0.029 . . . 0 3.701e-05 0 0 0 0 8.65e-05 0 0 0.0008 0.0002 0 0 0 0 0 0 . . 0.133 . -0.864 -0.864000 . . 0.450000 . . 1.0E-191 0.000 0.063 . 0.016 0.008 . 0.001 . 0.023 -0.864 0.567 . . . rs200459967 rs200459967 1 1538 10 1/0 0,248,255 +rs75690456 19 22363413 C T - ZNF676 20429 Zinc finger protein 676 NM_001001411.2 -1 2934 1767 NP_001001411.2 Q8N7Q3 substitution missense exon GRCh37 22363413 22363413 Chr19(GRCh37):g.22363413C>T 1106 1106 NM_001001411.2:c.1106G>A p.Gly369Glu p.Gly369Glu 3 976 3' 92.8116 10.1899 0.986256 5.83441 92.8116 10.1899 0.986256 5.83441 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs75690456 yes no Frequency 1 T 0.000000 0 0.000739 0.001348 0.000910 0.000896 0.002010 0.000632 0.000619 0.000133 0.000649 0.002010 159 20 22 8 23 16 64 3 3 215272 14834 24176 8926 11444 25308 103428 22536 4620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 159 20 22 8 23 16 64 3 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3756559|COSM3756559 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000283 2231|3530 transition G A G>A 0.039 0.286 G Gly GGA 0.246 E Glu GAA 0.417 369 11 2 Chimp -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 264.92 0.00 Tolerated 1 III.14 bad 8.293E-6 0.0001263 190 PASS . . . . . . . . . . . ENSG00000196109:ENST00000397121:exon3:c.G1106A:p.G369E ZNF676:uc002nqs.1:exon3:c.G1106A:p.G369E ZNF676:NM_001001411:exon3:c.G1106A:p.G369E . . 0.13636364 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.015 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G369E|ZNF676|mRNA|CODING|NM_001001411|NM_001001411.ex.3) . . . . . . . -1.9181 -1.925 -1.918 c . . . . . . . . . 0 1.111e-05 0 0 0 2.376e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.580 . . exonic exonic exonic . . 0.077 @ . . . 0.42 0.37 182 ENSG00000196109 ZNF676 ZNF676 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.092 0.004 . . 37 . 0.148 . . 0.212 . . . 0.009 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.102 . . 0.121 . . . . . . 0 0.010 . . . . . 0.121 . 0.092 . LowAF 1 rs75690456 0.109 0.130 . . . . . . . . . . IV.27 . ENST00000397121 0.85 -1.7 . 1.000000 Q8N7Q3 . . . . . 0.003 . . . 0.0006 0.0006 0.0009 0.0008 0.0020 4.821e-05 0.0004 0.0007 0.0006 0.0033 0.0030 0 0.0060 0.0026 0.0011 0.0037 0 . . 0.133 . -1.083 -1.083000 . . 1.000000 . . 1.0E-190 0.000 0.063 . 0.016 0.001 . 0.062 . 0.001 -1.083 -1.095 0.11 . . rs75690456 rs75690456 1 1538 10 1/0 0,255,255 +rs775934244 19 22847567 A G - ZNF492 23707 Zinc finger protein 492 NM_020855.2 1 4245 1596 NP_065906.1 Q9P255 substitution missense exon GRCh37 22847567 22847567 Chr19(GRCh37):g.22847567A>G 1096 1096 NM_020855.2:c.1096A>G p.Lys366Glu p.Lys366Glu 4 966 3' 92.4688 8.86393 0.981741 5.50298 92.4688 8.86393 0.981741 5.50298 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs775934244 yes no Frequency 1 0.000000 0 0.000056 0.000000 0.000042 0.000000 0.000083 0.000000 0.000046 0.000171 0.000251 0.000171 9 0 1 0 1 0 3 3 1 161520 9202 23580 7228 12104 23380 64530 17512 3984 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 1 0 1 0 3 3 1 0 0 0 0 0 0 0 0 0 RF 59 Exomes transition A G A>G 0.220 -1.974 K Lys AAA 0.425 E Glu GAA 0.417 366 12 11 Giant panda 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 238.71 16.18 Deleterious 0 III.17 190 PASS . . . . . . . . . . . ENSG00000229676:ENST00000456783:exon4:c.A1096G:p.K366E ZNF492:uc002nqw.3:exon4:c.A1096G:p.K366E ZNF492:NM_020855:exon4:c.A1096G:p.K366E . . 0.13725491 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.103 . @ . . . . . 1 0.072 . . 51.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K366E|ZNF492|mRNA|CODING|NM_020855|NM_020855.ex.4) . . . . . . . -0.9909 -1.309 -0.991 c . . . . . 2.438e-05 . . . 0 4.906e-05 0 0 0 0.0001 0 0 0 0.0001 0 0 0.0004 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.576 . . exonic exonic exonic . . 0.065 @ . . . 0.37 0.35 182 ENSG00000229676 ZNF492 ZNF492 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.244 0.009 . . 37 . 0.533 . . 0.428 . . . 0.195 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.692 . . 0 0 0 0 0 0 . 0.899 . . 0.875 . . . . . . 0 0.586 . . . . . 0.001 . 0.118 . LowAF 0.1 rs775934244 . . . . . . . . . . . . 0.1206 . ENST00000456783 1.XII -2.25 . 0.230000 Q9P255 . . . . . 0.028 . . . 0 5.572e-05 4.241e-05 0 8.262e-05 0.0002 4.649e-05 0.0003 0 . . . . . . . . . . 0.133 . -1.141 -1.141000 . . 0.230000 . . 1.0E-190 0.000 0.063 . 0.043 0.624 . 0.049 . 0.047 -1.141 -0.175 . rs4100184 rs4100184 rs4100184 rs4100184 1 1538 10 1/0 0,255,255 +rs183193312 19 22939552 T C - ZNF99 13175 Zinc finger protein 99 NM_001080409.2 -1 7881 2595 NP_001073878.2 A8MXY4 substitution 3'UTR GRCh37 22939552 22939552 Chr19(GRCh37):g.22939552T>C *564 *564 NM_001080409.2:c.*564A>G p.? p.? 4 603981 2933 3' 90.0141 8.49056 0.966191 4.21161 90.0141 8.49056 0.966191 4.21161 0 rs183193312 yes no Frequency/1000G 2 T 0.000000 0 0.004193 0.000000 0.000000 0.000000 0.015900 0.007200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 239310 14374 33366 9610 17180 30728 106896 21800 5356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 105 Exomes 8350 3760 12110 80 4 84 0.00948992 0.0010627 0.00688863 0.00948992 0.0010627 0.00688863 46 transition A G A>G 0.000 -0.117 255 PASS . 0.0046 0.01 . 0.01 . 0.0042 0.0072 . 0.016 . ENSG00000213973:ENST00000397104:exon7:c.A2619G:p.S873S . . . . 0.41935483 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . UTR_3_PRIME(MODIFIER||||ZNF99|mRNA|CODING|NM_001080409|NM_001080409.ex.4) 0.0011 0.0069 0.0095 0.0011 0.0069 0.0095 . -0.2494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic UTR3 UTR3 . . . 0.0042 . . . 0.3 0.3 182 ENSG00000213973 ZNF99 ZNF99 . uc021urt.1:c.*564A>G NM_001080409:c.*564A>G . . . 824 0.0126816 64976 803 0.0133865 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183193312 . . . . . . . . . . . . . . . . . . . . . . . 0.006889 . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs183193312 rs183193312 1 1538 10 1/0 0,255,255 +rs186681590 19 22939556 G A - ZNF99 13175 Zinc finger protein 99 NM_001080409.2 -1 7881 2595 NP_001073878.2 A8MXY4 substitution 3'UTR GRCh37 22939556 22939556 Chr19(GRCh37):g.22939556G>A *560 *560 NM_001080409.2:c.*560C>T p.? p.? 4 603981 2929 3' 90.0141 8.49056 0.966191 4.21161 90.0141 8.49056 0.966191 4.21161 0 rs186681590 yes no Frequency/1000G 2 G 0.000000 0 0.003395 0.000000 0.000000 0.000000 0.011900 0.007200 0.000005 0.000119 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000119 1 1 0 0 0 0 0 0 0 221780 8370 31602 9120 15066 29798 101420 21418 4986 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 113 Exomes transition C T C>T 0.000 -1.570 255 PASS 0.14 0.06 0.02 0.05 0.03 . 0.0034 0.0072 . 0.012 . ENSG00000213973:ENST00000397104:exon7:c.C2615T:p.S872F . . . . 0.5483871 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.045 . @ . . . . . 2 0.020 . . 31.0 . . UTR_3_PRIME(MODIFIER||||ZNF99|mRNA|CODING|NM_001080409|NM_001080409.ex.4) . . . . . . . -1.9949 -2.149 -1.995 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.363 . . exonic UTR3 UTR3 . . 0.057 0.0034 . . . 0.27 0.22 182 ENSG00000213973 ZNF99 ZNF99 . uc021urt.1:c.*560C>T NM_001080409:c.*560C>T 0.000 0.029 . 832 0.0128047 64976 811 0.0135198 59986 . . 0 . . . . . . . . . . . 37 . 0.002 . . 0.290 . . . . 0.090 . . . . . . . . . . . . . . . 0.527 . . . . . . 0 . . 0.144 . . 0.170 . . . . . . 0 0.045 . . . . . 0.111 . 0.072 . HET 0.23 rs186681590 . . . . . . . 0.05631868131868132 0.13617886178861788 0.022099447513812154 0.0472027972027972 0.027704485488126648 IV.01 0.002238 ENST00000397104 I.32 -2.64 . 0.500000 A8MXY4 . . . . . 0.007 . . . 0.0001 4.509e-06 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.638 -1.638000 . . 0.500000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.001 . 0.000 -1.638 -0.512 0.14 . . rs186681590 rs186681590 1 1538 10 1/0 0,255,255 +rs757467965 19 24118194 T G - ZNF726 32462 Zinc finger protein 726 NM_001244038.1 1 1964 1851 NP_001230967.1 substitution downstream GRCh37 24118194 24118194 Chr19(GRCh37):g.24118194T>G *1425 *1425 NM_001244038.1:c.*1425T>G p.? p.? 4 3050 3' 92.288 X.04 0.994547 5.12947 92.288 X.04 0.994547 5.12947 0 rs757467965 yes no Frequency 1 0.000000 0 0.000392 0.000044 0.000909 0.003512 0.000000 0.000000 0.000286 0.000000 0.000159 0.003512 103 1 31 35 0 0 35 0 1 262610 22628 34118 9966 18546 30504 122482 18092 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 103 1 31 35 0 0 35 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.976 1.577 255 PASS . . . . . . . . . . . ENSG00000213967:ENST00000322487:exon7:c.T2135G:p.I712S . . . . 0.41666666 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.102 . @ . . . . . 3 0.152 . . 36.0 . . DOWNSTREAM(MODIFIER||||ZNF726|mRNA|CODING|NM_001244038|) . . . . . . . -0.4217 -0.594 -0.422 c . . . . . 3.195e-04 . . . 0 0.0005 0.0010 0 0 0.0008 0 0 0 0.0004 0.0011 0 0 0.0006 0 0 nonsynonymous_SNV . . 0.600 . . exonic ncRNA_intronic intergenic . . 0.079 @ . . . . . . ENSG00000213967 AK125686 . . . dist\x3d1425\x3bdist\x3d98013 0.000 0.044 . 11 0.000169293 64976 11 0.000183376 59986 . . 0 . . . . . . T 0.142 0.005 . . 37 . 0.497 . . 0.513 . . . . 0.810 . . . . . . . . . . . . . . . 0.087 . . . . . . 0 . . . . . . . . . . . . 0 0.721 . . . . . 0.111 . 0.314 . HET 0 rs757467965 . . . . . . . . . . . . IV.77 . ENST00000322487 0.814 -1.63 . 0.000000 . . . . . . 0.064 . . . 7.192e-05 0.0004 0.0009 0.0034 0 0 0.0003 0.0002 0 0 9.69e-05 0 0.0066 0 0 6.662e-05 0 . . 0.133 . 0.158 0.158000 . . 0.000000 . . 1.0E-255 0.714 0.285 . 0.016 0.018 . 0.412 . 0.008 0.158 -0.613 . . . . . 1 1538 10 1/0 0,255,255 +rs150031604 19 24126520 T C - ZNF726 32462 Zinc finger protein 726 NM_001244038.1 1 1964 1851 NP_001230967.1 substitution downstream GRCh37 24126520 24126520 Chr19(GRCh37):g.24126520T>C *9751 *9751 NM_001244038.1:c.*9751T>C p.? p.? 4 11376 3' 92.288 X.04 0.994547 5.12947 92.288 X.04 0.994547 5.12947 0 rs150031604 yes no Frequency/1000G 2 0.000000 0 0.002596 0.000800 0.000000 0.000000 0.002000 0.014400 0.001001 0.000917 0.005967 0.003311 0.000000 0.000000 0.000867 0.000573 0.002041 0.005967 31 8 5 1 0 0 13 2 2 30954 8720 838 302 1620 0 15002 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 8 5 1 0 0 13 2 2 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition T C T>C 0.000 -0.037 255 PASS 0.0041 0.0037 0.01 . 0.0026 0.0008 0.0026 0.014 . 0.002 . . . . . . 0.5285714 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 70.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . 0.0026 . . . 0.45 0.67 182 ENSG00000269289 AK125686 . . . dist\x3d9751\x3bdist\x3d89687 . . . 114 0.00175449 64976 102 0.0017004 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs150031604 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0010 0.0060 0.0033 0 0.0006 0.0009 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs150031604 rs150031604 1 1538 10 1/0 0,255,255 +rs1127493 19 30500143 T C - URI1 13236 URI1, prefoldin-like chaperone NM_003796.3 1 3460 1608 NP_003787.2 O94763 substitution synonymous exon GRCh37 30500143 30500143 Chr19(GRCh37):g.30500143T>C 918 918 NM_003796.3:c.918T>C p.Asp306= p.Asp306Asp 8 603494 -118 5' 70.6833 III.85 0.228565 0 70.6833 III.85 0.228565 0 0 rs1127493 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.009100 0.000000 0.000000 0.005000 0.001400 0.003382 0.013810 0.001869 0.000403 0.000109 0.001392 0.002699 0.004848 0.003823 0.013810 908 324 63 4 2 42 329 120 24 268492 23462 33716 9932 18298 30174 121878 24754 6278 0.000022 0.000170 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 3 2 0 0 0 0 1 0 0 901 319 63 4 2 42 327 120 24 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3756587|COSM3756587|COSM3756587|COSM3756587|COSM3756587 Thymus|Lung|Liver|Large intestine|Kidney 0.006579|0.000419|0.000844|0.000896|0.001048 152|2389|2371|2231|1909 transition T C T>C 0.000 -4.072 D Asp GAT 0.461 D Asp GAC 0.539 306 201 PASS . . . . . 0.0091 0.0036 0.0014 . 0.005 . . . . . . 0.1641791 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 0 . . . 67.0 . . . . . . . . . . -0.5013 . . . . . . . . . . . . 0.0148 0.0036 0.0012 0.0002 0.0046 0.0025 0.0059 0.0016 0.0145 0.0036 0.0012 0.0001 0.0052 0.0031 0.0045 0.0016 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0036 . . . 0.59 0.48 182 ENSG00000105176 URI1 URI1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1127493 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv519832 . . . . . . 0.0132 0.0030 0.0019 0.0004 0.0001 0.0049 0.0027 0.0036 0.0014 0.0148 0.0062 0.0025 0 0 0.0047 0.0025 0.0052 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . rs1127493 rs1127493 rs1127493 rs1127493 1 1538 10 1/0 0,249,255 +rs142812224 19 33378696 T C - CEP89 25907 Centrosomal protein 89kDa NM_032816.4 -1 2671 2352 NP_116205.3 Q96ST8 substitution missense exon GRCh37 33378696 33378696 Chr19(GRCh37):g.33378696T>C 1927 1927 NM_032816.4:c.1927A>G p.Ser643Gly p.Ser643Gly 17 615470 -39 5' 99.6933 X.84 0.99816 5.37157 99.6933 X.84 0.99816 5.15129 0 rs142812224 yes no Frequency/1000G 2 T 0.000000 0 0.001997 0.000000 0.003100 0.000000 0.005000 0.002900 0.004644 0.001249 0.002267 0.001084 0.000000 0.003218 0.007301 0.004499 0.004329 0.007301 1287 30 78 11 0 99 925 116 28 277146 24012 34402 10148 18868 30764 126698 25786 6468 0.000029 0.000000 0.000058 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 4 0 1 0 0 0 2 1 0 1279 30 76 11 0 99 921 114 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8531 4404 12935 67 2 69 0.00779251 0.000453926 0.00530606 0.00779251 0.000453926 0.00530606 112 COSM5365330 Large intestine 0.001793 2231 transition A G A>G 0.992 0.528 S Ser AGC 0.243 G Gly GGC 0.342 643 12 5 Zebrafish 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 55.27 0.00 Tolerated 1 3.I 255 PASS . 0.0018 . . 0.01 . 0.002 0.0029 . 0.005 0.0031 ENSG00000121289:ENST00000305768:exon17:c.A1927G:p.S643G . CEP89:NM_032816:exon17:c.A1927G:p.S643G . . 0.5510204 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.003 . . 49.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S643G|CEP89|mRNA|CODING|NM_032816|NM_032816.ex.17) 0.0005 0.0053 0.0078 0.0005 0.0053 0.0078 . -1.0880 -0.970 -1.088 c . . . . . 5.123e-03 . . . 0.0015 0.0041 0.0020 0 0.0055 0.0060 0.0029 0.0037 0.0016 0.0051 0.0020 0 0.0044 0.0077 0 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.873 . . exonic exonic exonic . . 0.140 0.0020 . . . 0.5 0.26 182 ENSG00000121289 CEP89 CEP89 . . . 0.000 0.071 . 329 0.00506341 64976 319 0.00531791 59986 Likely_benign . 0 . 0.486 . . . . T 0.303 0.012 . . 37 . 0.558 . . 0.422 . . . 0.003 0.211 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.369 . 0.007 . HET 1 rs142812224 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 IX.01 5.35E-4 ENST00000305768 V.15 0.127 . 0.390000 Q96ST8 . . . 0.005306 . 0.115 . . . 0.0012 0.0048 0.0023 0.0011 0 0.0046 0.0076 0.0042 0.0032 0.0013 0.0036 0.0012 0 0 0.0037 0.0053 0.0051 . . 0.730 . 0.024 0.024000 . . 0.390000 . . 1.0E-255 1.000 0.715 . 0.251 0.596 . 0.443 . 0.110 0.024 -0.342 0.01 . . rs142812224 rs142812224 1 1538 10 1/0 0,255,255 +rs200498530 19 33490667 G A - RHPN2 19974 Rhophilin, Rho GTPase binding protein 2 NM_033103.4 -1 3531 2061 NP_149094.3 Q8IUC4 substitution intron GRCh37 33490667 33490667 Chr19(GRCh37):g.33490667G>A 1106-56 1106-56 NM_033103.4:c.1106-56C>T p.? p.? 10 9 -56 3' 87.6741 X.87 0.679184 XII.43 87.6741 X.87 0.679184 XII.13 0 Cryptic Acceptor Weakly Activated 33490650 6.32353 0.041483 72.7595 6.95252 0.094984 72.7595 rs200498530 yes no Frequency 1 G 0.000000 0 0.000232 0.000589 0.000000 0.000000 0.000000 0.000000 0.000068 0.000000 0.001035 0.000589 7 5 0 0 0 0 1 0 1 30228 8484 796 294 1568 0 14720 3400 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 5 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition C T C>T 0.000 -0.924 207 PASS . . . . . . . . . . . . . . . . 0.17699115 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . INTRON(MODIFIER||||RHPN2|mRNA|CODING|NM_033103|) . . . . . . . -0.4108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.19 182 ENSG00000131941 RHPN2 RHPN2 . . . . . . 377 0.00580214 64976 14 0.000233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200498530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0 0 0 0 6.793e-05 0.0010 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs200498530 rs200498530 1 1538 10 1/0 0,228,255 +rs774966453 19 35434960 C T - ZNF30 13090 Zinc finger protein 30 NM_001099437.1 1 2587 1875 NP_001092907.1 substitution stop gain exon GRCh37 35434960 35434960 Chr19(GRCh37):g.35434960C>T 1093 1093 NM_001099437.1:c.1093C>T p.Arg365* p.Arg365* 5 834 3' 87.6427 X.56 0.980992 4.15144 87.6427 X.56 0.980992 4.15144 0 Cryptic Acceptor Weakly Activated 35434960 4.03951 0.019005 73.8642 4.23012 0.032236 73.3784 Zinc finger, C2H2 Zinc finger, C2H2-like rs774966453 yes no Frequency 1 C 0.000000 0 0.000051 0.000042 0.000029 0.000000 0.000530 0.000000 0.000016 0.000000 0.000000 0.000530 14 1 1 0 10 0 2 0 0 277128 24008 34410 10150 18868 30782 126654 25790 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 1 1 0 10 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 0.205 R Arg CGA 0.110 * * TGA 0.489 365 255 PASS . . . . . . . . . . . . . . . . 0.36893204 . . @ 38 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.954 . @ . . . . . 0 0.317 . . 103.0 . . . . . . . . . . -0.6249 -1.075 -0.625 c . . . . . 3.158e-05 . . . 0 3.319e-05 0 0.0005 0 0 0 0 0 3.779e-05 0 0.0005 0 0 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.036 @ . . . . . . ENSG00000168661 ZNF30 ZNF30 . . . 0.353 0.197 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.013 . . . HET 1 rs774966453 . . . . . . . . . . . . 0.9665 . . 2.VII -4.15 . 1.000000 . . . Name\x3dnsv523802 . . 0.089 . . . 0 4.874e-05 2.979e-05 0 0.0006 0 8.956e-06 0 0 0.0001 6.467e-05 0 0 0 0 6.67e-05 0 . . 0.372 . -1.418 -1.418000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.801 . 0.009 . 0.006 -1.418 -0.677 . . . . . 1 1538 10 1/0 0,248,255 +. 19 36213534 T G - KMT2B 15840 Lysine (K)-specific methyltransferase 2B NM_014727.2 1 8471 8148 NP_055542.1 Q9UMN6 substitution missense exon GRCh37 36213534 36213534 Chr19(GRCh37):g.36213534T>G 2636 2636 NM_014727.2:c.2636T>G p.Leu879Arg p.Leu879Arg 5 606834 65 3' 89.1395 IX.55 0.9274 13.1322 89.1395 IX.55 0.9274 13.5593 0 Methyltransferase, trithorax transversion T G T>G 1.000 4.402 L Leu CTG 0.404 R Arg CGG 0.207 879 12 9 Zebrafish -2 -2 -4 0 0.65 4.IX 10.V 111 124 102 C0 177.30 21.IV Tolerated 0.06 II.93 255 PASS . . . . . . . . . . . . . KMT2B:NM_014727:exon5:c.T2636G:p.L879R . . 0.48251748 . . @ 69 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.764 . @ . . . . . 1 0.602 . . 143.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L879R|KMT2B|mRNA|CODING|NM_014727|NM_014727.ex.5) . . . . . . . 0.7399 0.732 0.740 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.957 . . exonic exonic exonic . . 0.775 @ . . . . . . ENSG00000272333 KMT2B KMT2B . . . 1.000 0.403 . . . . . . . Uncertain_significance . 0 . 0.316 . . . . D 0.946 0.466 . . 37 . 0.965 . . 0.971 . . . 0.505 0.588 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.790 . . 0 0 0 0 0 0 . 0.764 . . 0.875 . . . . . . 0 0.912 . . . . . 0.674 . 0.851 . HET 0 . . . . . . . . . . . . . 14.5357 . . V.39 V.39 . 0.000000 Q9UMN6 . . . . . 0.698 . . V.39 . . . . . . . . . . . . . . . . . . . 0.730 . 2.263 2.263000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.653 0.992 . 0.802 . 0.807 2.263 0.991 . . . . . 1 1538 10 1/0 0,245,255 +rs200264198 19 36348116 G A - KIRREL2 18816 Kin of IRRE like 2 (Drosophila) NM_199180.3 1 2993 2127 NP_954649.3 Q6UWL6 substitution intron GRCh37 36348116 36348116 Chr19(GRCh37):g.36348116G>A 61+34 61+34 NM_199180.3:c.61+34G>A p.? p.? 1 1 607762 34 5' 71.4999 10.0514 0.767098 X.74 71.4999 10.0514 0.767098 X.44 0 Cryptic Donor Strongly Activated 36348113 0.032211 68.5228 III.42 0.236027 72.8852 rs200264198 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000400 0.000128 0.000029 0.000000 0.000000 0.000000 0.000820 0.000078 0.000313 0.000820 109 3 1 0 0 0 101 2 2 272238 23498 34276 9894 18802 30598 123192 25598 6380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 109 3 1 0 0 0 101 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4403 12989 10 1 11 0.00116333 0.000227066 0.000846154 0.00116333 0.000227066 0.000846154 22 transition G A G>A 0.000 1.013 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . 0.4155 . . . . . . . . 5.528e-04 . . . 0.0002 0.0004 0 0 0 0.0008 0 0 0.0002 0.0006 0 0 0 0.0011 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.24 0.41 182 ENSG00000126259 KIRREL2 KIRREL2 . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200264198 . . . . . . . . . . . . . . . . . . . . . . . 0.000846 . . . . . 0.0001 0.0004 2.991e-05 0 0 9.047e-05 0.0008 0.0004 0 0.0001 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs200264198 rs200264198 1 1538 10 1/0 0,255,255 +rs200264198 19 36348116 G A - NPHS1 7908 NPHS1, nephrin NM_004646.3 -1 5024 3726 NP_004637.1 O60500 substitution upstream LRG_693 17074 17074 LRG_693:g.17074C>T -5377 -5377 NM_004646.3:c.-5377C>T p.? p.? 1 602716 -5435 5' 95.331 X.37 0.994661 9.35584 95.331 X.37 0.994661 9.35584 0 rs200264198 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000400 0.000128 0.000029 0.000000 0.000000 0.000000 0.000820 0.000078 0.000313 0.000820 109 3 1 0 0 0 101 2 2 272238 23498 34276 9894 18802 30598 123192 25598 6380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 109 3 1 0 0 0 101 2 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4403 12989 10 1 11 0.00116333 0.000227066 0.000846154 0.00116333 0.000227066 0.000846154 22 transition C T C>T 0.000 255 PASS . 0. . . . . 0.0002 . . 0.001 . . . . . . 0.42 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . 0.4155 . . . . . . . . 5.528e-04 . . . 0.0002 0.0004 0 0 0 0.0008 0 0 0.0002 0.0006 0 0 0 0.0011 0 0 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.24 0.41 182 ENSG00000126259 KIRREL2 KIRREL2 . . . . . . 29 0.000446319 64976 28 0.000466776 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200264198 . . . . . . . . . . . . . . . . . . . . . . . 0.000846 . . . . . 0.0001 0.0004 2.991e-05 0 0 9.047e-05 0.0008 0.0004 0 0.0001 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0012 . . rs200264198 rs200264198 1 1538 10 1/0 0,255,255 +rs7257466 19 38135444 C G - ZFP30 29555 ZFP30 zinc finger protein NM_001320666.2 -1 6196 1560 NP_001307595.1 Q9Y2G7 substitution intron GRCh37 38135444 38135444 Chr19(GRCh37):g.38135444C>G 136+67 136+67 NM_001320666.2:c.136+67G>C p.? p.? 4 4 617317 67 5' 81.1326 VIII.68 0.991691 0 81.1326 VIII.68 0.991691 0 0 rs7257466 no no 0 C 0.000000 0 transversion G C G>C 0.008 -1.086 194 PASS . . . . . . . . . . . . . . . . 0.14705883 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||ZFP30|mRNA|CODING|NM_014898|) . . . . . . . -0.6409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.07 182 ENSG00000120784 ZFP30 ZFP30 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs7257466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs7257466 rs7257466 rs7257466 rs7257466 1 1538 10 1/0 0,255,255 +rs112783899 19 38377772 C T - WDR87 29934 WD repeat domain 87 NM_001291088.1 -1 9102 8739 NP_001278017.1 substitution missense exon GRCh37 38377772 38377772 Chr19(GRCh37):g.38377772C>T 6539 6539 NM_001291088.1:c.6539G>A p.Arg2180Gln p.Arg2180Gln 6 3145 3' 92.123 VIII.92 0.973138 9.28463 92.123 VIII.92 0.973138 9.28463 0 rs112783899 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.000800 0.005100 0.000000 0.008900 0.005800 0.009651 0.002253 0.006487 0.019953 0.000000 0.006377 0.014764 0.005761 0.010528 0.019953 1750 37 160 170 0 142 1075 115 51 181320 16420 24664 8520 11832 22268 72810 19962 4844 0.000110 0.000000 0.000081 0.000235 0.000000 0.000090 0.000165 0.000000 0.000413 10 0 1 1 0 1 6 0 1 1730 37 158 168 0 140 1063 115 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.609 R Arg CGG 0.207 Q Gln CAG 0.744 2180 12 4 Olive baboon 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 353.86 0.00 Tolerated 0.07 III.66 255 PASS . 0.0037 0.0028 . 0.01 0.0008 0.0038 0.0058 . 0.0089 0.0051 . . . . . 0.59183675 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.305 . @ . . . . . 1 0.098 . . 49.0 . . . . . . . . . . -1.1415 -1.109 -1.141 c . . . . . 9.017e-03 . . . 0.0027 0.0104 0.0146 0 0.0238 0.0162 0.0103 0.0064 0.0032 0.0090 0.0101 0 0.0031 0.0169 0.0056 0.0065 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.639 . . exonic exonic exonic . . 0.142 0.0038 . . . 0.2 0.32 182 ENSG00000171804 WDR87 WDR87 . . . 0.001 0.073 . 811 0.0124815 64976 792 0.0132031 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.316 . . 0.167 . . . 0.094 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.028 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 0 0.194 . . . . . 0.293 . 0.012 . HET 0.26 rs112783899 . . . . . . . 0.003663003663003663 0.0 0.0027624309392265192 0.0 0.009234828496042216 VII.92 0.007123 . 4.VI 0.163 . 0.390000 . . . Name\x3dnsv833820 . . 0.005 . . . 0.0026 0.0099 0.0065 0.0200 0 0.0054 0.0152 0.0114 0.0064 0.0020 0.0083 0.0060 0.0199 0 0.0075 0.0131 0.0071 . . 0.133 . 0.041 0.041000 . . 0.390000 . . 1.0E-255 0.001 0.137 . 0.062 0.001 . 0.170 . 0.054 0.041 -0.500 0.01 . . rs112783899 rs112783899 1 1538 10 1/0 0,255,255 +rs117354953 19 38896204 T G - FAM98C 27119 Family with sequence similarity 98 member C NM_174905.3 1 1275 1050 NP_777565.3 Q17RN3 substitution missense exon GRCh37 38896204 38896204 Chr19(GRCh37):g.38896204T>G 679 679 NM_174905.3:c.679T>G p.Cys227Gly p.Cys227Gly 6 46 3' 90.64 5.00857 0.961183 4.03226 90.64 5.00857 0.961183 4.29531 0 Uncharacterised protein family FAM98 rs117354953 yes no Frequency/1000G 2 T 0.000000 0 0.004792 0.000800 0.002000 0.000000 0.016900 0.005800 0.009032 0.002668 0.005055 0.005713 0.000053 0.002729 0.014817 0.006710 0.011139 0.014817 2503 64 174 58 1 84 1877 173 72 277136 23988 34418 10152 18868 30782 126680 25784 6464 0.000115 0.000000 0.000000 0.000000 0.000000 0.000130 0.000189 0.000155 0.000000 16 0 0 0 0 2 12 2 0 2471 64 174 58 1 80 1853 169 72 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8463 4366 12829 127 12 139 0.0147846 0.00274098 0.0107187 0.0147846 0.00274098 0.0107187 57 transversion T G T>G 0.921 1.497 C Cys TGC 0.552 G Gly GGC 0.342 227 12 9 Zebrafish -3 -3 -6 II.75 0.74 5.V 9 55 3 159 C0 232.01 29.38 Tolerated 0.41 II.77 good 6.418E-1 0.4075 255 PASS 0.0041 0.01 0.01 0.0017 0.02 0.0008 0.0048 0.0058 . 0.017 0.002 . . FAM98C:NM_174905:exon6:c.T679G:p.C227G . . 0.48818898 . . @ 62 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.662 . @ . . . . . 1 0.268 . . 127.0 . . . 0.0027 0.011 0.015 0.0027 0.011 0.015 . 0.0098 0.050 0.010 c . . . . . 9.288e-03 . . . 0.0029 0.0081 0.0045 0 0.0047 0.0138 0.0085 0.0028 0.0028 0.0092 0.0046 0 0.0068 0.0147 0.0087 0.0028 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.454 0.0048 . . . 0.42 0.29 182 ENSG00000130244 FAM98C FAM98C . . . 0.761 0.235 . 770 0.0118505 64976 747 0.0124529 59986 Uncertain_significance . 0 . 0.152 . . . . . . . . . 37 . 0.258 . . 0.143 . . . 0.867 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.846 . . 0 0 0 0 0 0 . 0.478 . . 0.381 . . . . . . 7 0.632 . . . . . 0.342 . 0.127 . HET 0 rs117354953 0.022 0.014 . . . . . 0.0086996336996337 0.0040650406504065045 0.008287292817679558 0.0017482517482517483 0.017150395778364115 VIII.57 0.002695 . 5.II III.99 . 0.270000 . . . . 0.010719 . 0.510 . . III.99 0.0028 0.0090 0.0049 0.0056 0 0.0064 0.0148 0.0119 0.0027 0.0024 0.0096 0.0095 0.0099 0.0006 0.0089 0.0151 0.0071 . . 0.924 . 0.738 0.738000 . . 0.270000 . . 1.0E-255 0.992 0.373 . 0.408 0.915 . 0.372 . 0.767 0.738 0.991 0.022 . . rs117354953 rs117354953 1 1538 10 1/0 0,250,255 +rs140135310 19 39303413 T A - LGALS4 6565 Lectin, galactoside-binding, soluble, 4 NM_006149.3 -1 1279 972 NP_006140.1 P56470 substitution intron GRCh37 39303413 39303413 Chr19(GRCh37):g.39303413T>A 45+69 45+69 NM_006149.3:c.45+69A>T p.? p.? 1 1 602518 69 5' 81.3945 8.72199 0.953829 X.04 81.3945 8.72199 0.953829 X.35 0 rs140135310 yes no Frequency/1000G 2 T 0.000000 0 0.003395 0.000000 0.003100 0.000000 0.010900 0.004300 0.008715 0.001959 0.001196 0.000000 0.000000 0.000000 0.012292 0.015535 0.013598 0.015535 267 17 1 0 0 0 182 54 13 30638 8680 836 300 1584 0 14806 3476 956 0.003745 0.058824 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 265 15 1 0 0 0 182 54 13 0 0 0 0 0 0 0 0 0 PASS 42 Genomes 3135 1382 4517 47 2 49 0.0147706 0.00144509 0.0107315 0.0147706 0.00144509 0.0107315 40 transversion A T A>T 0.000 -1.328 255 PASS . 0.01 0.0028 . 0.01 . 0.0034 0.0043 . 0.011 0.0031 . . . . . 0.5769231 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . 0.0014 0.011 0.015 0.0014 0.011 0.015 . -0.1950 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic intronic . . . 0.0034 . . . 0.3 0.19 182 ENSG00000171747 LGALS4 LGALS4 ENST00000594209:c.-299A>T . . . . . 594 0.00914184 64976 577 0.00961891 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs140135310 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.010731 . . . . . . . . . . . . . . 0.0020 0.0087 0.0012 0 0 0.0155 0.0123 0.0136 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.015 . . rs140135310 rs140135310 1 1538 10 1/0 0,255,255 +rs769203717 19 39787294 T A - IFNL1 18363 Interferon, lambda 1 NM_172140.1 1 856 603 NP_742152.1 Q8IU54 substitution intron GRCh37 39787294 39787294 Chr19(GRCh37):g.39787294T>A 171+62 171+62 NM_172140.1:c.171+62T>A p.? p.? 1 1 607403 62 5' 82.9985 9.27414 0.981155 7.24253 82.9985 9.27414 0.981155 7.09953 0 New Acceptor Site 39787296 5.56906 0.917962 80.6541 rs769203717 yes no Frequency 1 T 0.000000 0 0.000420 0.000458 0.000000 0.000000 0.000000 0.000000 0.000600 0.000000 0.000000 0.000600 13 4 0 0 0 0 9 0 0 30964 8728 838 302 1622 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 4 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion T A T>A 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.4054054 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . INTRON(MODIFIER||||IFNL1|mRNA|CODING|NM_172140|) . . . . . . . -0.3108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000182393 IFNL1 IFNL1 . . . . . . 41 0.000631002 64976 41 0.000683493 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs769203717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0004 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs187869018 19 39882050 C A - MED29 23074 Mediator complex subunit 29 NM_017592.2 1 3661 666 NP_060062.1 substitution synonymous exon GRCh37 39882050 39882050 Chr19(GRCh37):g.39882050C>A 51 51 NM_017592.2:c.51C>A p.Val17= p.Val17Val 1 612914 -229 5' 83.2449 5.94804 0.466768 6.53163 83.2449 5.94804 0.466768 6.53163 0 rs187869018 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.000000 0.007200 0.000547 0.000251 0.001194 0.006742 0.000000 0.000000 0.000230 0.000000 0.001087 0.006742 151 6 41 68 0 0 29 0 7 276102 23948 34332 10086 18844 30690 126088 25676 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 6 41 68 0 0 29 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 34 transversion C A C>A 0.000 -0.198 V Val GTC 0.240 V Val GTA 0.114 17 255 PASS . 0.0014 0.01 . . . 0.001 0.0072 . . . . MED29:uc002olf.3:exon1:c.C51A:p.V17V MED29:NM_017592:exon1:c.C51A:p.V17V . . 0.56435645 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.11 . . . . . . . . 3.789e-04 . . . 0.0002 0.0005 0.0009 0 0 0.0008 0 0 0.0002 0.0004 0.0007 0 0 0.0006 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.6 0.46 182 ENSG00000063322 MED29 MED29 . . . . . . 13 0.000200074 64976 8 0.000133364 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187869018 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 6.573e-05 0.0006 0.0012 0.0070 0 0 0.0002 0.0013 0 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187869018 rs187869018 1 1538 10 1/0 0,255,255 +rs187869018 19 39882050 C A - PAF1 25459 PAF1 homolog, Paf1/RNA polymerase II complex component NM_019088.3 -1 2289 1596 NP_061961.2 Q8N7H5 substitution upstream GRCh37 39882050 39882050 Chr19(GRCh37):g.39882050C>A -546 -546 NM_019088.3:c.-546G>T p.? p.? 1 610506 -593 5' 84.1408 9.87848 0.969629 X.41 84.1408 9.87848 0.969629 X.41 0 rs187869018 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.000000 0.007200 0.000547 0.000251 0.001194 0.006742 0.000000 0.000000 0.000230 0.000000 0.001087 0.006742 151 6 41 68 0 0 29 0 7 276102 23948 34332 10086 18844 30690 126088 25676 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 151 6 41 68 0 0 29 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4406 13003 3 0 3 0.000348837 0 0.000230663 0.000348837 0 0.000230663 34 transversion G T G>T 0.000 -0.198 255 PASS . 0.0014 0.01 . . . 0.001 0.0072 . . . . MED29:uc002olf.3:exon1:c.C51A:p.V17V MED29:NM_017592:exon1:c.C51A:p.V17V . . 0.56435645 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . 0.0002 0.0003 . 0.0002 0.0003 . I.11 . . . . . . . . 3.789e-04 . . . 0.0002 0.0005 0.0009 0 0 0.0008 0 0 0.0002 0.0004 0.0007 0 0 0.0006 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.6 0.46 182 ENSG00000063322 MED29 MED29 . . . . . . 13 0.000200074 64976 8 0.000133364 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187869018 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 6.573e-05 0.0006 0.0012 0.0070 0 0 0.0002 0.0013 0 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs187869018 rs187869018 1 1538 10 1/0 0,255,255 +rs112350522 19 40319260 C T - DYRK1B 3092 Dual specificity tyrosine phosphorylation regulated kinase 1B NM_004714.2 -1 2570 1890 NP_004705.1 Q9Y463 substitution intron GRCh37 40319260 40319260 Chr19(GRCh37):g.40319260C>T 521-37 521-37 NM_004714.2:c.521-37G>A p.? p.? 6 5 604556 -37 3' 74.0117 XI.25 0.961562 12.849 74.0117 XI.25 0.961562 13.0626 0 rs112350522 yes no Frequency/1000G 2 C 0.000000 0 0.008586 0.028700 0.000000 0.000000 0.000000 0.007200 0.001835 0.015543 0.002165 0.000000 0.000000 0.000116 0.000236 0.000000 0.002033 0.015543 449 339 69 0 0 3 26 0 12 244702 21810 31870 8488 17874 25940 110190 22626 5904 0.000049 0.000550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 6 6 0 0 0 0 0 0 0 437 327 69 0 0 3 26 0 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4333 12929 4 73 77 0.000465116 0.0165683 0.00592034 0.000465116 0.0165683 0.00592034 28 transition G A G>A 0.000 -1.005 255 PASS 0.03 0.01 0.01 . . 0.029 0.0086 0.0072 . . . . . . . . 0.3809524 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . 0.017 0.0059 0.0005 0.017 0.0059 0.0005 . -0.4863 . . . . . . . . 1.746e-03 . . . 0.0200 0.0028 0.0023 0 0 0.0002 0.0022 0.0003 0.0202 0.0021 0.0021 0 0 0.0002 0.0048 0.0003 . . . . . . intronic intronic intronic . . . 0.0086 . . . 0.39 0.15 182 ENSG00000105204 DYRK1B DYRK1B . . . . . . 60 0.000923418 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112350522 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.005920 . . . . . 0.0160 0.0015 0.0022 0 0 0 0.0002 0.0018 0.0001 0.0149 0.0044 0 0 0 0 0.0003 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 . . rs112350522 rs112350522 1 1538 10 1/0 0,255,255 +rs112350522 19 40319260 C T - MIR6719 50012 MicroRNA 6719 NR_106777.1 -1 87 0 substitution downstream GRCh37 40319260 40319260 Chr19(GRCh37):g.40319260C>T *1096 *1096 NR_106777.1:n.*1096G>A p.? p.? 1 rs112350522 yes no Frequency/1000G 2 C 0.000000 0 0.008586 0.028700 0.000000 0.000000 0.000000 0.007200 0.001835 0.015543 0.002165 0.000000 0.000000 0.000116 0.000236 0.000000 0.002033 0.015543 449 339 69 0 0 3 26 0 12 244702 21810 31870 8488 17874 25940 110190 22626 5904 0.000049 0.000550 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 6 6 0 0 0 0 0 0 0 437 327 69 0 0 3 26 0 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4333 12929 4 73 77 0.000465116 0.0165683 0.00592034 0.000465116 0.0165683 0.00592034 28 transition G A G>A 0.000 -1.005 255 PASS 0.03 0.01 0.01 . . 0.029 0.0086 0.0072 . . . . . . . . 0.3809524 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . 0.017 0.0059 0.0005 0.017 0.0059 0.0005 . -0.4863 . . . . . . . . 1.746e-03 . . . 0.0200 0.0028 0.0023 0 0 0.0002 0.0022 0.0003 0.0202 0.0021 0.0021 0 0 0.0002 0.0048 0.0003 . . . . . . intronic intronic intronic . . . 0.0086 . . . 0.39 0.15 182 ENSG00000105204 DYRK1B DYRK1B . . . . . . 60 0.000923418 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112350522 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.005920 . . . . . 0.0160 0.0015 0.0022 0 0 0 0.0002 0.0018 0.0001 0.0149 0.0044 0 0 0 0 0.0003 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.03 . . rs112350522 rs112350522 1 1538 10 1/0 0,255,255 +. 19 40383697 C T - FCGBP 13572 Fc fragment of IgG binding protein NM_003890.2 -1 16390 16218 NP_003881.2 Q9Y6R7 substitution missense exon GRCh37 40383697 40383697 Chr19(GRCh37):g.40383697C>T 9913 9913 NM_003890.2:c.9913G>A p.Gly3305Arg p.Gly3305Arg 21 617553 -147 5' 90.6189 10.0684 0.995252 18.1701 90.6189 10.0684 0.995252 18.1701 0 New Acceptor Site 40383695 5.30957 0.094223 71.1988 von Willebrand factor, type D domain 0.001741 0.005541 0.000852 0.001377 0.000620 0.000158 0.001506 0.001916 0.003445 0.005541 118 47 10 2 5 1 40 6 7 67776 8482 11732 1452 8060 6318 26568 3132 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 118 47 10 2 5 1 40 6 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM6238656 Liver 0.000422 2371 transition G A G>A 0.000 0.286 G Gly GGA 0.246 R Arg AGA 0.205 3305 12 2 Chimp -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Deleterious 0 IV.32 unknown 0.0 0.0 179 PASS . . . . . . . . . . . ENSG00000090920:ENST00000221347:exon21:c.G9913A:p.G3305R FCGBP:uc002omp.4:exon21:c.G9913A:p.G3305R FCGBP:NM_003890:exon21:c.G9913A:p.G3305R . . 0.11111111 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.395 . @ . . . . . 1 0.124 . . 90.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G3305R|FCGBP|mRNA|CODING|NM_003890|NM_003890.ex.21) . . . . . . . -0.4482 -0.709 -0.448 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.152 @ . . . 0.43 0.38 182 ENSG00000090920 FCGBP FCGBP . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.160 0.006 . . 37 . 0.578 . . 0.461 . . . 0.238 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.657 . . 0.647 . . . . . . 0 . . . . . . 0.107 . 0.114 . LowAF 0.11 . . . . . . . . . . . . . 4.387 . ENST00000221347 II.58 0.344 . 0.290000 Q9Y6R7 . . . . . 0.063 . . . 0.0002 0.0005 0.0008 0.0015 0.0003 0 0.0004 0.0020 0.0002 0.0132 0.0060 0.0022 0 0.0056 0.0031 0.0039 0.0078 . . 0.372 . 0.364 0.364000 . . 0.290000 . . 1.0E-179 0.000 0.063 . 0.117 0.002 . 0.094 . 0.291 0.364 0.853 . . . rs78608182 rs78608182 1 1538 10 1/0 0,232,255 +rs762214476 19 40386524 C T - FCGBP 13572 Fc fragment of IgG binding protein NM_003890.2 -1 16390 16218 NP_003881.2 Q9Y6R7 substitution synonymous exon GRCh37 40386524 40386524 Chr19(GRCh37):g.40386524C>T 8790 8790 NM_003890.2:c.8790G>A p.Val2930= p.Val2930Val 19 617553 -79 5' 80.8656 8.78894 0.958981 XI.61 80.8656 8.78894 0.958981 XI.39 0 von Willebrand factor, type D domain rs762214476 yes no Frequency 1 C 0.000000 0 0.002451 0.019569 0.001423 0.000000 0.000000 0.000000 0.000379 0.000000 0.000000 0.019569 85 69 11 0 0 0 5 0 0 34680 3526 7730 808 2928 3176 13178 2288 1046 0.000058 0.000000 0.000259 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 83 69 9 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5427904 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.953 -1.167 V Val GTG 0.468 V Val GTA 0.114 2930 255 PASS . . . . . . . . . . . ENSG00000090920:ENST00000221347:exon19:c.G8790A:p.V2930V FCGBP:uc002omp.4:exon19:c.G8790A:p.V2930V FCGBP:NM_003890:exon19:c.G8790A:p.V2930V . . 0.45945945 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V2930|FCGBP|mRNA|CODING|NM_003890|NM_003890.ex.19) . . . . . . . -0.0150 . . . . . . . . 1.154e-04 . . . 0.0132 0.0035 0 0 . 0 0 0 0.0238 0.0097 0 0 . 0 . 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.35 182 ENSG00000090920 FCGBP FCGBP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762214476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0219 0.0022 0.0015 0 0 0 0.0004 0 0 0.015 0.0037 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2111545 rs2111545 rs2111545 rs2111545 1 1538 10 1/0 0,255,255 +rs202095416 19 40400338 G A - FCGBP 13572 Fc fragment of IgG binding protein NM_003890.2 -1 16390 16218 NP_003881.2 Q9Y6R7 substitution synonymous exon GRCh37 40400338 40400338 Chr19(GRCh37):g.40400338G>A 5751 5751 NM_003890.2:c.5751C>T p.Asp1917= p.Asp1917Asp 12 617553 -89 5' 84.0719 8.94615 0.928887 11.905 84.0719 8.94615 0.928887 11.905 0 Cryptic Acceptor Strongly Activated 40400325 3.68632 0.038889 76.5489 4.15578 0.136345 79.6645 Uncharacterised domain, cysteine-rich rs202095416 yes no Frequency 1 G 0.000000 0 0.003521 0.011149 0.002326 0.005435 0.000857 0.003463 0.003549 0.000000 0.000000 0.011149 32 13 3 1 2 5 8 0 0 9088 1166 1290 184 2334 1444 2254 186 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 13 3 1 2 5 8 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM5426431 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 0.528 D Asp GAC 0.539 D Asp GAT 0.461 1917 203 PASS . . . . . . . . . . . ENSG00000090920:ENST00000221347:exon12:c.C5751T:p.D1917D FCGBP:uc002omp.4:exon12:c.C5751T:p.D1917D FCGBP:NM_003890:exon12:c.C5751T:p.D1917D . . 0.16666667 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1917|FCGBP|mRNA|CODING|NM_003890|NM_003890.ex.12) . . . . . . . 0.5110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.49 0.46 182 ENSG00000090920 FCGBP FCGBP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202095416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . III.84 0.0126 0.0036 0.0023 0.0054 0.0009 0 0.0036 0 0.0035 0 0 0 . 0 0 0 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . rs74625068 rs202095416 1 1538 10 1/0 0,226,255 +rs114290052 19 40513191 C T - ZNF546 28671 Zinc finger protein 546 NM_178544.4 1 8027 2511 NP_848639.2 Q86UE3 substitution missense exon GRCh37 40513191 40513191 Chr19(GRCh37):g.40513191C>T 182 182 NM_178544.4:c.182C>T p.Ala61Val p.Ala61Val 5 11 3' 89.0495 5.74057 0.8959 5.23229 89.0495 5.74057 0.876849 4.70991 -0.00708822 Cryptic Acceptor Strongly Activated 40513198 IV.75 0.401815 83.0383 4.72638 0.507867 84.549 Krueppel-associated box rs114290052 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.013600 0.000000 0.000000 0.000000 0.001400 0.001401 0.014225 0.000410 0.000000 0.000062 0.000080 0.000110 0.000000 0.000353 0.014225 348 319 11 0 1 2 13 0 2 248328 22426 26830 8932 16124 25070 117940 25334 5672 0.000024 0.000268 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 3 0 0 0 0 0 0 0 342 313 11 0 1 2 13 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4342 12938 4 64 68 0.000465116 0.0145256 0.00522836 0.000465116 0.0145256 0.00522836 89 transition C T C>T 0.031 0.932 A Ala GCA 0.226 V Val GTA 0.114 61 12 1 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.65 II.86 255 PASS 0.01 0.0023 0.0028 . . 0.014 0.0038 0.0014 . . . . . . . . 0.59615386 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.684 . @ . . . . . 1 0.539 . . 52.0 . . . 0.015 0.0052 0.0005 0.015 0.0052 0.0005 . -0.7226 -0.712 -0.723 c . . . . . 1.342e-03 . . . 0.0148 0.0018 0.0005 0 0 9.555e-05 0 0.0001 0.0155 0.0015 0.0005 0 0 9.253e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.018 . . exonic exonic exonic . . 0.320 0.0038 . . . 0.54 0.26 182 ENSG00000187187 ZNF546 ZNF546 . . . 0.993 0.332 . 33 0.00050788 64976 14 0.000233388 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.012 . . 0.443 . . . 0.048 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.188 . . 0.227 . . . . . . 0 0.496 . . . . . 0.286 . 0.107 . HET 0.01 rs114290052 . . . . . . . 0.0022893772893772895 0.008130081300813009 0.0027624309392265192 0.0 0.0 VII.57 0.017121 ENST00000347077 II.83 II.83 . 0.010000 . . . Name\x3ddgv1082e1 0.005228 . 0.108 . . II.83 0.0151 0.0011 0.0004 0 6.894e-05 0 0.0001 0 7.978e-05 0.0128 0.0037 0 0 0 0 0.0001 0.0020 . . 0.093 . 1.571 1.571000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.216 0.265 . 0.177 . 0.310 1.571 0.791 0.015 . . rs114290052 rs114290052 1 1538 10 1/0 0,255,255 +rs73046351 19 40887079 G A - HIPK4 19007 Homeodomain interacting protein kinase 4 NM_144685.4 -1 2486 1851 NP_653286.2 Q8NE63 substitution splice site GRCh37 40887079 40887079 Chr19(GRCh37):g.40887079G>A 823-4 823-4 NM_144685.4:c.823-4C>T p.? p.? 3 2 611712 -4 3' 77.7867 9.97531 0.922185 10.0488 77.7867 8.60177 0.94243 8.86083 -0.0385802 rs73046351 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000122 0.000000 0.000412 0.000000 0.000000 0.000000 0.000119 0.000000 0.000483 0.000412 31 0 14 0 0 0 14 0 3 254804 22856 33970 9514 18696 29612 117896 16048 6212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 0 14 0 0 0 14 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8365 4274 12639 3 0 3 0.000358509 0 0.000237304 0.000358509 0 0.000237304 29 transition C T C>T 0.819 1.093 255 PASS . 0.0009 0.01 . . . 0.0004 0.0029 . . . . . . . . 0.44852942 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . 0.0002 0.0004 . 0.0002 0.0004 . 1.1607 . . . . . . . . 7.970e-05 . . . 0 7.556e-05 0.0003 0 0 8.224e-05 0 0 0 7.202e-05 0.0003 0 0 7.873e-05 0 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.51 0.35 182 ENSG00000160396 HIPK4 HIPK4 . . . . . . 7 0.000107732 64976 5 8.33528e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs73046351 . 0.007 . . . . . . . . . . . . . . . . . . 0.0002 0.05 . 0.000237 . . . . III.49 0 0.0001 0.0004 0 0 0 0.0001 0.0004 0 0 9.694e-05 0 0 0 0 0.0001 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . rs73046351 rs73046351 rs73046351 1 1538 10 1/0 0,244,255 +. 19 41192610 T TAGAG - NUMBL 8061 NUMB like, endocytic adaptor protein NM_004756.4 -1 3568 1830 NP_004747.1 Q9Y6R0 insertion intron GRCh37 41192610 41192611 Chr19(GRCh37):g.41192610_41192611insAGAG 109+205 109+206 NM_004756.4:c.109+205_109+206insCTCT p.? p.? 2 2 604018 205 5' 89.8591 9.60237 0.990286 11.1382 89.8591 9.60237 0.990286 11.1382 0 Cryptic Acceptor Strongly Activated 41192593 V.39 0.723775 71.5395 6.59476 0.841421 71.5395 CTCT 255 Pass . . . . . . . . . . . . . . . . 0.46 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000105245 NUMBL NUMBL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv3871n71 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,34 +rs115927680 19 41247799 T C - C19orf54 24758 Chromosome 19 open reading frame 54 NM_001353809.1 -1 2479 1134 NP_001340738.1 substitution intron GRCh37 41247799 41247799 Chr19(GRCh37):g.41247799T>C 975-30 975-30 NM_001353809.1:c.975-30A>G p.? p.? 7 6 -30 3' 83.4981 8.08333 0.967905 8.64296 83.4981 8.08333 0.967905 8.32699 0 rs115927680 yes no Frequency/1000G 2 T 0.000000 0 0.006989 0.023400 0.000000 0.000000 0.000000 0.005800 0.002349 0.020822 0.001914 0.000000 0.000000 0.000044 0.000223 0.000000 0.001739 0.020822 381 310 47 0 0 1 15 0 8 162220 14888 24558 8270 11530 22488 67152 8734 4600 0.000012 0.000134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 379 308 47 0 0 1 15 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -0.037 255 PASS 0.04 0.01 0.01 . . 0.023 0.007 0.0058 . . . . . . . . 0.55172414 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 58.0 . . . . . . . . . . -0.0065 . . . . . . . . 9.706e-04 . . . 0.0201 0.0011 0.0053 0 0 0.0003 0 0 0.0202 0.0007 0.0069 0 0 0.0004 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0070 . . . 0.38 0.46 182 ENSG00000188493 C19orf54 C19orf54 . . NM_198476:c.*539A>G . . . 54 0.000831076 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115927680 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0223 0.0016 0.0019 0 0 0 0.0002 0.0022 4.447e-05 0.0197 0.0057 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 . . rs115927680 rs115927680 1 1538 10 1/0 0,255,255 +rs115927680 19 41247799 T C - ITPKC 14897 Inositol 1,4,5-trisphosphate 3-kinase C NM_025194.2 1 3385 2052 NP_079470.1 Q96DU7 substitution downstream GRCh37 41247799 41247799 Chr19(GRCh37):g.41247799T>C *2334 *2334 NM_025194.2:c.*2334T>C p.? p.? 7 606476 2538 3' 83.5255 X.83 0.883941 13.0337 83.5255 X.83 0.883941 13.0337 0 rs115927680 yes no Frequency/1000G 2 T 0.000000 0 0.006989 0.023400 0.000000 0.000000 0.000000 0.005800 0.002349 0.020822 0.001914 0.000000 0.000000 0.000044 0.000223 0.000000 0.001739 0.020822 381 310 47 0 0 1 15 0 8 162220 14888 24558 8270 11530 22488 67152 8734 4600 0.000012 0.000134 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 379 308 47 0 0 1 15 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.037 255 PASS 0.04 0.01 0.01 . . 0.023 0.007 0.0058 . . . . . . . . 0.55172414 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 58.0 . . . . . . . . . . -0.0065 . . . . . . . . 9.706e-04 . . . 0.0201 0.0011 0.0053 0 0 0.0003 0 0 0.0202 0.0007 0.0069 0 0 0.0004 0 0 . . . . . . UTR3 UTR3 UTR3 . . . 0.0070 . . . 0.38 0.46 182 ENSG00000188493 C19orf54 C19orf54 . . NM_198476:c.*539A>G . . . 54 0.000831076 64976 19 0.000316741 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs115927680 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0223 0.0016 0.0019 0 0 0 0.0002 0.0022 4.447e-05 0.0197 0.0057 0.0012 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 . . rs115927680 rs115927680 1 1538 10 1/0 0,255,255 +rs116493527 19 41269551 C T - SNRPA 11151 Small nuclear ribonucleoprotein polypeptide A NM_004596.4 1 1629 849 NP_004587.1 P09012 substitution synonymous exon GRCh37 41269551 41269551 Chr19(GRCh37):g.41269551C>T 660 660 NM_004596.4:c.660C>T p.Asn220= p.Asn220Asn 5 182285 -30 5' 74.8217 9.13691 0.97532 X.74 74.8217 9.13691 0.97532 9.91697 0 RNA recognition motif domain rs116493527 yes no Frequency/1000G 2 C 0.000000 0 0.005192 0.014400 0.000000 0.003000 0.000000 0.005800 0.001984 0.014822 0.001714 0.000000 0.004876 0.000065 0.000229 0.000000 0.001856 0.014822 550 356 59 0 92 2 29 0 12 277204 24018 34420 10152 18868 30782 126710 25790 6464 0.000022 0.000250 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 3 0 0 0 0 0 0 0 544 350 59 0 92 2 29 0 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4356 12955 1 50 51 0.000116279 0.0113482 0.00392127 0.000116279 0.0113482 0.00392127 181 transition C T C>T 0.969 -0.037 N Asn AAC 0.536 N Asn AAT 0.464 220 255 PASS 0.02 0.01 0.01 0.0035 . 0.014 0.0052 0.0058 0.003 . . . SNRPA:uc002ooz.3:exon5:c.C660T:p.N220N SNRPA:NM_004596:exon5:c.C660T:p.N220N . . 0.42727274 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 110.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N220|SNRPA|mRNA|CODING|NM_004596|NM_004596.ex.5) 0.011 0.0039 0.0001 0.011 0.0039 0.0001 . 0.8891 . . . . . . . . 1.792e-03 . . . 0.0142 0.0021 0.0015 0.0034 0 0.0002 0 0 0.0138 0.0017 0.0015 0.0033 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0052 . . . 0.35 0.23 182 ENSG00000077312 SNRPA SNRPA . . . . . . 42 0.000646393 64976 16 0.000266729 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116493527 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833832 0.003921 . . . . . 0.0152 0.0016 0.0017 0 0.0045 0 0.0002 0.0022 6.497e-05 0.0142 0.0047 0.0012 0 0.0093 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs116493527 rs116493527 1 1538 10 1/0 0,253,255 +rs150973573 19 41307140 C T - EGLN2 14660 Egl nine homolog 2 (C. elegans) NM_080732.3 1 2155 1224 NP_542770.2 Q96KS0 substitution synonymous exon GRCh37 41307140 41307140 Chr19(GRCh37):g.41307140C>T 663 663 NM_080732.3:c.663C>T p.Asp221= p.Asp221Asp 2 606424 -181 5' 94.6745 X.23 0.998714 13.2834 94.6745 X.23 0.998714 13.2834 0 Prolyl 4-hydroxylase, alpha subunit rs150973573 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.004500 0.000000 0.000000 0.000000 0.005800 0.000848 0.006932 0.001048 0.000000 0.000160 0.000033 0.000160 0.000000 0.001243 0.006932 233 165 36 0 3 1 20 0 8 274664 23802 34366 10108 18760 30758 125204 25228 6438 0.000007 0.000084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 231 163 36 0 3 1 20 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4386 12983 1 18 19 0.000116306 0.00408719 0.00146131 0.000116306 0.00408719 0.00146131 51 COSM1393896 Large intestine 0.000448 2231 transition C T C>T 0.874 -0.602 D Asp GAC 0.539 D Asp GAT 0.461 221 255 PASS 0.01 0.0032 0.01 . . 0.0045 0.002 0.0058 . . . . . . . . 0.46086955 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 230.0 . . . 0.0041 0.0015 0.0001 0.0041 0.0015 0.0001 . 0.5872 . . . . . . . . 6.958e-04 . . . 0.0066 0.0009 0.0008 0.0002 0 0.0002 0 0 0.0061 0.0007 0.0008 0.0001 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0020 . . . 0.33 0.35 182 ENSG00000269858 . EGLN2 . . . . . . 17 0.000261635 64976 7 0.000116694 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs150973573 . . . . . . ID\x3dCOSM1393896\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . 0.001461 . . . . . 0.0072 0.0007 0.0011 0 0.0002 0 0.0002 0.0015 3.251e-05 0.0064 0.0019 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150973573 rs150973573 1 1538 10 1/0 0,222,249 +rs150973573 19 41307140 C T - RAB4B-EGLN2 44465 RAB4B-EGLN2 readthrough (NMD candidate) NR_037791.1 1 2849 0 substitution exon GRCh37 41307140 41307140 Chr19(GRCh37):g.41307140C>T 1711 1711 NR_037791.1:n.1711C>T 8 -181 5' 94.6745 X.23 0.998714 13.2834 94.6745 X.23 0.998714 13.2834 0 rs150973573 yes no Frequency/1000G 2 C 0.000000 0 0.001997 0.004500 0.000000 0.000000 0.000000 0.005800 0.000848 0.006932 0.001048 0.000000 0.000160 0.000033 0.000160 0.000000 0.001243 0.006932 233 165 36 0 3 1 20 0 8 274664 23802 34366 10108 18760 30758 125204 25228 6438 0.000007 0.000084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 231 163 36 0 3 1 20 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8597 4386 12983 1 18 19 0.000116306 0.00408719 0.00146131 0.000116306 0.00408719 0.00146131 51 COSM1393896 Large intestine 0.000448 2231 transition C T C>T 0.874 -0.602 255 PASS 0.01 0.0032 0.01 . . 0.0045 0.002 0.0058 . . . . . . . . 0.46086955 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 1 . . . 230.0 . . . 0.0041 0.0015 0.0001 0.0041 0.0015 0.0001 . 0.5872 . . . . . . . . 6.958e-04 . . . 0.0066 0.0009 0.0008 0.0002 0 0.0002 0 0 0.0061 0.0007 0.0008 0.0001 0 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0020 . . . 0.33 0.35 182 ENSG00000269858 . EGLN2 . . . . . . 17 0.000261635 64976 7 0.000116694 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . rs150973573 . . . . . . ID\x3dCOSM1393896\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . 0.001461 . . . . . 0.0072 0.0007 0.0011 0 0.0002 0 0.0002 0.0015 3.251e-05 0.0064 0.0019 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs150973573 rs150973573 1 1538 10 1/0 0,222,249 +rs763408129 (chr19:41331956 G/A) 19 41331956 G A No Alamut gene - other known genes: CYP2F1P CYP2F1P +rs116333747 19 41382544 G A - CYP2A7 2611 Cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764.2 -1 2281 1485 NP_000755.2 P20853 substitution synonymous exon GRCh37 41382544 41382544 Chr19(GRCh37):g.41382544G>A 1191 1191 NM_000764.2:c.1191C>T p.Ser397= p.Ser397Ser 8 608054 30 3' 85.1843 8.07634 0.970865 X.76 85.1843 8.07634 0.970865 X.16 0 Cytochrome P450 Cytochrome P450, E-class, group I Cytochrome P450, E-class, group I, CYP2A-like Cytochrome P450, E-class, group I, CYP2B-like rs116333747 yes no Frequency/1000G 2 0.000000 0 0.005791 0.014400 0.006100 0.000000 0.004000 0.000000 0.005560 0.009361 0.002706 0.000000 0.000212 0.007542 0.006963 0.002446 0.006520 0.009361 1538 224 93 0 4 232 880 63 42 276602 23928 34362 10122 18850 30760 126378 25760 6442 0.000296 0.000167 0.000175 0.000000 0.000000 0.000520 0.000364 0.000155 0.000931 41 2 3 0 0 8 23 2 3 1456 220 87 0 4 216 834 59 36 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8545 4360 12905 55 46 101 0.00639535 0.0104403 0.00776565 0.00639535 0.0104403 0.00776565 103 transition C T C>T 0.992 -0.037 S Ser TCC 0.220 S Ser TCT 0.185 397 255 PASS 0.02 0.0046 . . 0.0026 0.014 0.0058 . . 0.004 0.0061 . . . . . 0.48701298 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . 0.01 0.0078 0.0064 0.01 0.0078 0.0064 . 0.1780 . . . . . . . . 6.593e-03 . . . 0.0128 0.0060 0.0023 0.0005 0.0016 0.0059 0.0042 0.0077 0.0125 0.0067 0.0024 0.0006 0.0018 0.0077 0.0072 0.0077 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0058 . . . 0.13 0.31 182 ENSG00000198077 CYP2A7 CYP2A7 . . . . . . 375 0.00577136 64976 352 0.00586804 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116333747 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . 0.007766 . . . . . 0.0095 0.0055 0.0027 0 0.0002 0.0023 0.0071 0.0066 0.0075 0.0092 0.0060 0.0024 0 0 0.0032 0.0057 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs116333747 rs116333747 1 1538 10 1/0 0,242,255 +rs768281033 19 41397873 C A - CYP2G1P 2633 Cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene NR_040249.1 1 2511 0 substitution exon GRCh37 41397873 41397873 Chr19(GRCh37):g.41397873C>A 1143 1143 NR_040249.1:n.1143C>A 1 601133 -185 5' 81.1016 8.60125 0.903955 2.37695 81.1016 8.60125 0.903955 2.37695 0 rs768281033 yes no Frequency 1 A 0.000000 0 0.000119 0.000363 0.000000 0.000000 0.000000 0.000000 0.000055 0.000000 0.000000 0.000363 4 3 0 0 0 0 1 0 0 33598 8258 874 416 1520 72 18066 3384 1008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -0.440 190 PASS . . . . . . . . . . . . . . . . 0.13533835 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctC/ctA|L381|CYP2G1P|Non-coding_transcript|NON_CODING|NR_040249|NR_040249.ex.1) . . . . . . . -0.5443 . . . . . . . . 7.634e-03 . . . 0.0667 0.0583 0.0556 0.0833 . 0.0530 0 0.0690 0.0588 0.0614 0.0909 0 . 0 . 0.06 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000130612 CYP2G1P CYP2G1P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs768281033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 . 0.0003 0 0 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs775995839 19 41397874 T C - CYP2G1P 2633 Cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene NR_040249.1 1 2511 0 substitution exon GRCh37 41397874 41397874 Chr19(GRCh37):g.41397874T>C 1144 1144 NR_040249.1:n.1144T>C 1 601133 -184 5' 81.1016 8.60125 0.903955 2.37695 81.1016 8.60125 0.903955 2.37695 0 rs775995839 yes no Frequency 1 0.000000 0 0.000120 0.000365 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 0.000365 4 3 0 0 0 0 1 0 0 33302 8212 866 418 1532 70 17822 3378 1004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.247 199 PASS . . . . . . . . . . . . . . . . 0.15652174 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 115.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L382|CYP2G1P|Non-coding_transcript|NON_CODING|NR_040249|NR_040249.ex.1) . . . . . . . -0.5005 . . . . . . . . 7.619e-03 . . . 0.0723 0.0603 0.0588 0.0833 . 0.0539 0 0.0714 0.0714 0.0660 0.1 0 . 0 . 0.06 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000130612 CYP2G1P CYP2G1P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs775995839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 . 0.0003 0 0 0.0004 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 19 41533221 GGCGCAGCACCGA G - CYP2A7P1 2612 Cytochrome P450 family 2 subfamily A member 7 pseudogene 1 ENST00000595391.1 -1 815 0 deletion intron GRCh37 41533222 41533233 Chr19(GRCh37):g.41533222_41533233del 179-69 179-58 ENST00000595391.1:n.179-69_179-58del p.? p.? 2 1 -58 3' 0 0.646161 0.003685 0 0 0.646161 0.003685 0 0 rs564927115 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.002038 0.000230 0.000000 0.000000 0.000000 0.000000 0.003136 0.003148 0.003061 0.003148 63 2 0 0 0 0 47 11 3 30916 8702 838 302 1614 0 14986 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 2 0 0 0 0 47 11 3 0 0 0 0 0 0 0 0 0 PASS 41 Genomes TCGGTGCTGCGC 255 Pass . . . . . . 0.0008 . . 0.004 . . . . . . 0.43269232 . . . 90 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 208 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . . . . . . . . ENSG00000213908 CYP2A7 . . . dist\x3d8921\x3bdist\x3d61123 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . rs564927115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0020 0 0 0 0.0031 0.0031 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,36 +rs751187720 19 41631592 C T - CYP2F1 2632 Cytochrome P450 family 2 subfamily F member 1 NM_000774.4 1 1847 1476 NP_000765.2 P24903 substitution intron GRCh37 41631592 41631592 Chr19(GRCh37):g.41631592C>T 1294+53 1294+53 NM_000774.4:c.1294+53C>T p.? p.? 9 9 124070 53 5' 82.1078 8.29716 0.883757 2.89679 82.1078 8.29716 0.883757 II.69 0 rs751187720 yes no Frequency 1 T 0.000000 0 0.000022 0.000127 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000127 6 3 0 0 0 0 3 0 0 275718 23600 34402 10130 18848 30770 125840 25706 6422 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.861 221 PASS . . . . . . . . . . . ENSG00000197446:ENST00000534009:exon2:c.C384T:p.H128H . . . . 0.21513945 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 251.0 . . INTRON(MODIFIER||||CYP2F1|mRNA|CODING|NM_000774|) . . . . . . . -0.6166 . . . . . . . . 4.735e-05 . . . 0 1.102e-05 8.649e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV . . . . . exonic UTR3 intronic . . . @ . . . 0.4 0.17 182 ENSG00000197446 CYP2F1 CYP2F1 . uc010xvv.1:c.*912C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs751187720 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv2492 . . . . . . 0 0 0 0 0 0 0 0 0 0.0004 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . rs75607786 rs75607786 1 1538 10 1/0 0,197,255 +. 19 42560915 A T - GRIK5 4583 Glutamate receptor, ionotropic, kainate 5 NM_001301030.1 -1 3320 2946 NP_001287959.1 substitution missense exon GRCh37 42560915 42560915 Chr19(GRCh37):g.42560915A>T 802 802 NM_001301030.1:c.802T>A p.Ser268Thr p.Ser268Thr 7 600283 61 3' 86.297 8.31083 0.900956 0 86.297 8.31083 0.900956 0 0 transversion T A T>A 1.000 4.564 S Ser TCC 0.220 T Thr ACC 0.361 268 12 12 Zebrafish 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C55 0.00 57.75 Deleterious 0 III.87 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 60 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.644 . @ . . . . . 1 0.742 . . 150.0 . . . . . . . . . . 0.6919 0.677 0.692 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.806 . . exonic exonic exonic . . 0.643 @ . . . . . . ENSG00000105737 GRIK5 GRIK5 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.783 0.106 . . 37 . 0.864 . . 0.877 . . . 0.488 0.441 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.279 . . 0 0 0 0 0 0 . 0.486 . . 0.657 . . . . . . 0 0.654 . . . . . 0.629 . 0.749 . HET 0.01 . . . . . . . . . . . . . 13.8645 . . IV.93 IV.93 . 0.010000 Q16478 . . . . . 0.950 . . IV.93 . . . . . . . . . . . . . . . . . . . 0.730 . 1.978 1.978000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.924 . 0.643 1.978 1.062 . . . . . 1 1538 10 1/0 0,235,255 +rs139892484 19 42777603 G A - CIC 14214 Capicua transcriptional repressor NM_001304815.1 1 8227 7554 NP_001291744.1 substitution synonymous exon GRCh37 42777603 42777603 Chr19(GRCh37):g.42777603G>A 1668 1668 NM_001304815.1:c.1668G>A p.Thr556= p.Thr556Thr 2 612082 -1127 5' 94.6711 X.63 0.992439 0 94.6711 X.63 0.992439 8.47725 0 rs139892484 yes no Frequency/1000G 2 G 0.000000 0 0.004792 0.000000 0.000000 0.000000 0.014900 0.013000 0.005631 0.000806 0.005981 0.029605 0.000000 0.000000 0.009410 0.001720 0.006135 0.029605 174 7 5 9 0 0 141 6 6 30900 8690 836 304 1620 0 14984 3488 978 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 1 0 0 0 0 0 1 0 0 172 7 5 9 0 0 139 6 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.961 -0.360 T Thr ACG 0.116 T Thr ACA 0.280 556 255 PASS . 0.01 0.01 . 0.01 . 0.0048 0.013 . 0.015 . ENSG00000079432:ENST00000572681:exon2:c.G1668A:p.T556T . CIC:NM_001304815:exon2:c.G1668A:p.T556T . . 0.4587156 . . @ 100 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 218.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T556|CIC|mRNA|CODING|NM_001304815|NM_001304815.ex.2) . . . . . . . 0.5375 . . . . . . . . 5.778e-04 . . . 0 0 . 0 . 0 . . 0 0 . . . 0 . . synonymous_SNV . synonymous_SNV . . . exonic intergenic exonic . . . 0.0048 . . . 0.51 0.36 182 ENSG00000079432 . CIC . dist\x3d1012\x3bdist\x3d11214 . . . . 598 0.0092034 64976 574 0.0095689 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139892484 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 0 0 0 0 . 0.0008 0.0056 0.0060 0.0298 0 0.0017 0.0094 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139892484 rs139892484 1 1538 10 1/0 0,224,250 +rs759275421 19 42861036 G A - MEGF8 3233 Multiple EGF-like-domains 8 NM_001271938.1 1 11167 8538 NP_001258867.1 Q7Z7M0 substitution missense exon GRCh37 42861036 42861036 Chr19(GRCh37):g.42861036G>A 4733 4733 NM_001271938.1:c.4733G>A p.Arg1578His p.Arg1578His 27 604267 -98 5' 89.5524 9.59704 0.977354 10.1788 89.5524 9.59704 0.977354 10.1788 0 rs759275421 yes no Frequency 1 G 0.000000 0 0.000135 0.000000 0.000031 0.000516 0.000000 0.000071 0.000228 0.000000 0.000000 0.000516 35 0 1 5 0 2 27 0 0 259312 22092 32770 9682 17988 28076 118380 24182 6142 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 0 1 5 0 2 27 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 1.000 2.627 R Arg CGT 0.082 H His CAT 0.413 1578 11 8 Cow 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Deleterious 0.02 III.49 255 PASS . . . . . . . . . . . . . . . . 0.43055555 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.489 . @ . . . . . 1 0.911 . . 72.0 . . . . . . . . . . 0.3134 0.354 0.313 c . . . . . 1.109e-04 . . . 0 0.0002 0 0 0 0.0003 0 0.0002 0 0.0002 0 0 0 0.0002 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.658 . . exonic exonic exonic . . 0.691 @ . . . . . . ENSG00000105429 MEGF8 MEGF8 . . . 0.928 0.269 . 24 0.000369367 64976 24 0.000400093 59986 Uncertain_significance . 0 . 0.629 . . . . D 0.666 0.056 . . 37 . 0.701 . . 0.731 . . . 0.031 0.537 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.659 . . 0 0 0 0 0 0 . 0.899 . . 0.797 . . . . . . 0 0.654 . . . . . 0.803 . 0.339 . HET 0.01 rs759275421 . . . . . . . . . . . . 16.0362 . . 5.XI 5.XI . 0.010000 . . . . . . 0.346 . . 5.XI 0 0.0001 3.132e-05 0.0005 0 0 0.0002 0 7.124e-05 0 6.47e-05 0 0 0 0 0.0001 0 . . 0.609 . 2.400 2.400000 . . 0.010000 . . 1.0E-255 0.998 0.411 . 0.294 0.980 . 0.496 . 0.713 2.400 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs17420655 19 43372932 C T - PSG1 9514 Pregnancy specific beta-1-glycoprotein 1 NM_001297773.1 -1 1882 1287 NP_001284702.1 substitution missense exon GRCh37 43372932 43372932 Chr19(GRCh37):g.43372932C>T 964 964 NM_001297773.1:c.964G>A p.Asp322Asn p.Asp322Asn 4 176390 -25 5' 69.9804 7.00037 0.463762 9.40928 69.9804 7.00037 0.463762 8.46071 0 rs17420655 yes no Frequency 1 0.000000 0 0.000948 0.009546 0.000183 0.000131 0.000000 0.000084 0.000069 0.000000 0.000170 0.009546 239 221 6 1 0 2 8 0 1 252072 23152 32856 7652 18616 23896 116300 23706 5894 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 239 221 6 1 0 2 8 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4423722|COSM4423722 Prostate|Liver 0.001134|0.000422 1764|2371 transition G A G>A 0.520 0.286 D Asp GAC 0.539 N Asn AAC 0.536 322 12 7 Pig 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 154.10 0.00 Tolerated 0.54 II.44 192 PASS . . . . . . . . . . . . . . . . 0.13872832 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.024 . @ . . . . . 1 0.007 . . 173.0 . . . . . . . . . . -0.9097 -0.994 -0.910 c . . . . . 1.780e-03 . . . 0.0214 0.0027 0.0006 0 0 0.0001 0.0016 0.0003 0.0215 0.0020 0.0006 0 0 3.892e-05 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.107 . . exonic exonic exonic . . 0.171 @ . . . 0.21 0.21 182 ENSG00000231924 PSG1 PSG1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.151 . . 0.478 . . . 0.556 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.716 . . 0 0 0 0 0 0 . 0.174 . . 0.315 . . . . . . 0 0.440 . . . . . 0.111 . 0.155 . LowAF 0.03 rs17420655 . . . . . . . . . . . . IV.99 0.011881 . I.79 0.676 . 0.740000 . . . . . . 0.246 . . . 0.0087 0.0006 0.0002 0.0001 0 0 5.912e-05 0.0002 8.37e-05 0.0110 0.0031 0 0 0 0 0.0001 0 . . 0.133 . 0.080 0.080000 . . 0.740000 . . 9.999999999999999E-193 0.859 0.304 . 0.145 0.187 . 0.202 . 0.057 0.080 0.666 . rs1071709 rs1071709 . . 1 1538 10 1/0 0,206,255 +rs71339505 19 43863300 A G - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863300 43863300 Chr19(GRCh37):g.43863300A>G 620-1117 620-1117 NM_020406.3:c.620-1117A>G p.? p.? 6 5 162860 -1117 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 Cryptic Acceptor Strongly Activated 43863300 3.40454 0.046925 73.2597 4.68951 0.174318 77.1706 CD59 antigen rs71339505 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.844 243 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.A620G:p.D207G . . . . 0.2826087 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.3781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.24 0.12 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.03 rs71339505 . . . . . . . . . . . . V.53 . ENST00000378009 1.III -1.02 . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.811 -0.811000 . . . . . 1.0E-243 . . . . . . . . . -0.811 . . . rs71339505 rs71339505 rs201674626 1 1538 10 1/0 0,245,255 +rs71339506 19 43863343 T C - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863343 43863343 Chr19(GRCh37):g.43863343T>C 620-1074 620-1074 NM_020406.3:c.620-1074T>C p.? p.? 6 5 162860 -1074 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs71339506 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.004 -0.279 255 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.T663C:p.N221N . . . . 0.33858266 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -0.2613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.26 0.12 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs71339506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs71339506 rs71339506 rs200381730 1 1538 10 1/0 0,235,255 +rs763876933 19 43863351 A G - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863351 43863351 Chr19(GRCh37):g.43863351A>G 620-1066 620-1066 NM_020406.3:c.620-1066A>G p.? p.? 6 5 162860 -1066 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs763876933 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.440 247 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.A671G:p.E224G . . . . 0.2962963 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.4588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.26 0.07 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs763876933 . . . . . . . . . . . . IV.76 . ENST00000378009 1.III 0.228 . 0.370000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.391 -0.391000 . . 0.370000 . . 1.0E-247 . . . . . . . . . -0.391 . . . rs71339507 rs71339507 rs71339507 1 1538 10 1/0 0,230,255 +rs751431292 19 43863357 A G - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863357 43863357 Chr19(GRCh37):g.43863357A>G 620-1060 620-1060 NM_020406.3:c.620-1060A>G p.? p.? 6 5 162860 -1060 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs751431292 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.360 243 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.A677G:p.E226G . . . . 0.2835821 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.0097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.25 0.07 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs751431292 . . . . . . . . . . . . IV.91 . ENST00000378009 1.III -0.0467 . 0.050000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.353 -0.353000 . . 0.050000 . . 1.0E-243 . . . . . . . . . -0.353 . . . rs71339508 rs71339508 rs71339508 1 1538 10 1/0 0,229,255 +rs62113740 19 43863359 C A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863359 43863359 Chr19(GRCh37):g.43863359C>A 620-1058 620-1058 NM_020406.3:c.620-1058C>A p.? p.? 6 5 162860 -1058 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs62113740 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -0.924 255 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.C679A:p.R227S . . . . 0.70454544 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.1301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.23 0.13 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs62113740 . . . . . . . . . . . . II.87 . ENST00000378009 1.III -0.935 . 0.050000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.946 -0.946000 . . 0.050000 . . 1.0E-255 . . . . . . . . . -0.946 . . rs62113740 rs62113740 rs62113740 rs62113740 1 1538 10 1/0 0,243,238 +rs767518097 19 43863362 G A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863362 43863362 Chr19(GRCh37):g.43863362G>A 620-1055 620-1055 NM_020406.3:c.620-1055G>A p.? p.? 6 5 162860 -1055 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs767518097 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -2.297 238 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.G682A:p.G228S . . . . 0.26618704 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 139.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.7274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . 0.24 0.12 182 ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs767518097 . . . . . . . . . . . . 5.1791 . ENST00000378009 1.III -2.6 . 0.610000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.494 -2.494000 . . 0.610000 . . 1.0E-238 . . . . . . . . . -2.494 . . . rs71339509 rs71339509 rs71339509 1 1538 10 1/0 0,226,255 +. 19 43863379 ATGTGT A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 deletion intron GRCh37 43863381 43863385 Chr19(GRCh37):g.43863381_43863385del 620-1036 620-1032 NM_020406.3:c.620-1036_620-1032del p.? p.? 6 5 162860 -1032 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs201507195 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes GTGTT 255 Pass . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.700_704del:p.C234fs . . . . 0.31333333 . . . 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 150 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion . . . . . exonic intronic intronic . . . . . . . . . . ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201507195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201507195 rs201507195 1 1538 10 1.I 0,11,50 +rs749851256 19 43863393 A G - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863393 43863393 Chr19(GRCh37):g.43863393A>G 620-1024 620-1024 NM_020406.3:c.620-1024A>G p.? p.? 6 5 162860 -1024 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs749851256 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.360 250 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.A713G:p.D238G . . . . 0.30496454 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 141.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -0.9802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs749851256 . . . . . . . . . . . . IV.68 . ENST00000378009 1.III 0.218 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.362 -0.362000 . . 0.000000 . . 1.0E-250 . . . . . . . . . -0.362 . . . . . . 1 1538 10 1/0 0,229,255 +rs755694960 19 43863395 T C - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863395 43863395 Chr19(GRCh37):g.43863395T>C 620-1022 620-1022 NM_020406.3:c.620-1022T>C p.? p.? 6 5 162860 -1022 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs755694960 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -0.360 254 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.T715C:p.W239R . . . . 0.31690142 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.2947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs755694960 . . . . . . . . . . . . IV.07 . ENST00000378009 1.III 0.215 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.325 -0.325000 . . 0.000000 . . 1.0000000000000001E-254 . . . . . . . . . -0.325 . . . . . . 1 1538 10 1/0 0,229,255 +rs779782208 19 43863396 G A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863396 43863396 Chr19(GRCh37):g.43863396G>A 620-1021 620-1021 NM_020406.3:c.620-1021G>A p.? p.? 6 5 162860 -1021 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 rs779782208 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.732 242 PASS . . . . . . . . . . . ENSG00000204936:ENST00000378009:exon6:c.G716A:p.W239X . . . . 0.27891156 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 147.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.7307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . . exonic intronic intronic . . . @ . . . . . . ENSG00000204936 CD177 CD177 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs779782208 . . . . . . . . . . . . 7.0315 . ENST00000378009 1.III -2.6 . 1.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.704 -1.704000 . . 1.000000 . . 1.0E-242 . . . . . . . . . -1.704 . . . . . . 1 1538 10 1/0 0,225,255 +rs62113741 19 43863419 G A - CD177 30072 CD177 molecule NM_020406.3 1 2222 1314 NP_065139.2 Q8N6Q3 substitution intron GRCh37 43863419 43863419 Chr19(GRCh37):g.43863419G>A 620-998 620-998 NM_020406.3:c.620-998G>A p.? p.? 6 5 162860 -998 3' 83.6628 8.72095 0.868233 8.97524 83.6628 8.72095 0.868233 8.97524 0 Cryptic Donor Strongly Activated 43863416 0.005846 59.0228 3.1239 0.075815 63.3851 rs62113741 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.844 255 PASS . . . . . . . . . . . . . . . . 0.6865672 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . INTRON(MODIFIER||||CD177|mRNA|CODING|NM_020406|) . . . . . . . -1.1504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . splicing intronic intronic . . . @ . . . 0.33 0.1 182 ENSG00000204936 CD177 CD177 ENST00000378009:exon6:c.738+1G>A . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.97 rs62113741 . . . . . . . . . . . . 0.4754 . ENST00000378009 1.III -1.27 . . . 0.0001 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.774 -0.774000 . . . . . 1.0E-255 . . . . . . . . . -0.774 . . rs62113741 rs62113741 rs62113741 rs200939512 1 1538 10 1/0 0,254,254 +rs587670082 (chr19:43865320 C/A) 19 43865320 C A Transcript NM_020406.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) CD177 +rs201821720 (chr19:43865321 T/A) 19 43865321 T A Transcript NM_020406.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) CD177 +rs200145410 (chr19:43865324 A/G) 19 43865324 A G Transcript NM_020406.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) CD177 +rs17856828 19 43877760 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution exon GRCh37 43877760 43877760 Chr19(GRCh37):g.43877760T>C 411 411 ENST00000606252.1:n.411A>G 4 30 3' 82.8559 X.51 0.90654 7.81379 82.8559 X.51 0.90654 8.03814 0 rs17856828 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18768 4196 570 144 1114 0 9476 2644 624 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition A G A>G 0.713 0.609 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.49 0.75 182 ENSG00000204933 . . . dist\x3d10280\x3bdist\x3d15003 dist\x3d10436\x3bdist\x3d15003 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs17856828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs17856828 rs17856828 rs17856828 rs17856828 1 1538 10 1/0 0,255,255 +rs879037047 19 43877763 A T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution exon GRCh37 43877763 43877763 Chr19(GRCh37):g.43877763A>T 408 408 ENST00000606252.1:n.408T>A 4 27 3' 82.8559 X.51 0.90654 7.81379 82.8559 X.51 0.90654 8.36127 0 rs879037047 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23442 6396 666 192 1164 0 11274 3010 740 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 33 Genomes transversion T A T>A 0.681 0.448 255 PASS . . . . . . . . . . . . . . . . 0.43 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d10283\x3bdist\x3d15000 dist\x3d10439\x3bdist\x3d15000 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.48 . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879161856 19 43877764 G T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution exon GRCh37 43877764 43877764 Chr19(GRCh37):g.43877764G>T 407 407 ENST00000606252.1:n.407C>A 4 26 3' 82.8559 X.51 0.90654 7.81379 82.8559 X.51 0.90654 7.81984 0 rs879161856 no no 0 G 0.000000 0 transversion C A C>A 0.189 0.609 255 PASS . . . . . . . . . . . . . . . . 0.44117647 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.3886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d10284\x3bdist\x3d14999 dist\x3d10440\x3bdist\x3d14999 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs763691115 19 43879665 C T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879665 43879665 Chr19(GRCh37):g.43879665C>T 241-998 241-998 ENST00000606252.1:n.241-998G>A p.? p.? 3 2 -998 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 Cryptic Donor Strongly Activated 43879668 0.005846 59.0228 3.1239 0.075815 63.3851 rs763691115 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.5979381 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.3 0.16 182 ENSG00000204933 . . . dist\x3d12185\x3bdist\x3d13098 dist\x3d12341\x3bdist\x3d13098 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.97 rs763691115 . . . . . . . . . . . . II.92 . ENST00000378007 0.955 -0.278 . 0.960000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.600 -0.600000 . . 0.960000 . . 1.0E-255 . . . . . . . . . -0.600 . . rs62113741 rs62113741 rs62113741 rs62113741 1 1538 10 1/0 0,255,255 +rs773993732 19 43879688 C T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879688 43879688 Chr19(GRCh37):g.43879688C>T 241-1021 241-1021 ENST00000606252.1:n.241-1021G>A p.? p.? 3 2 -1021 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs773993732 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.037 240 PASS . . . . . . . . . . . . . . . . 0.27433628 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d12208\x3bdist\x3d13075 dist\x3d12364\x3bdist\x3d13075 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs773993732 . . . . . . . . . . . . III.68 . ENST00000378007 0.955 -0.149 . 1.000000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -0.011 -0.011000 . . 1.000000 . . 1.0E-240 . . . . . . . . . -0.011 . . . . . . 1 1538 10 1/0 0,237,255 +rs761516352 19 43879689 A G - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879689 43879689 Chr19(GRCh37):g.43879689A>G 241-1022 241-1022 ENST00000606252.1:n.241-1022T>C p.? p.? 3 2 -1022 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs761516352 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -2.135 250 PASS . . . . . . . . . . . . . . . . 0.30555555 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 108.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.5924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d12209\x3bdist\x3d13074 dist\x3d12365\x3bdist\x3d13074 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs761516352 . . . . . . . . . . . . II.54 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -2.364 -2.364000 . . 0.000000 . . 1.0E-250 . . . . . . . . . -2.364 . . . . . . 1 1538 10 1/0 0,242,255 +rs767852639 19 43879691 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879691 43879691 Chr19(GRCh37):g.43879691T>C 241-1024 241-1024 ENST00000606252.1:n.241-1024A>G p.? p.? 3 2 -1024 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs767852639 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -2.619 246 PASS . . . . . . . . . . . . . . . . 0.29245284 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 106.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.5421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . . . . ENSG00000204933 . . . dist\x3d12211\x3bdist\x3d13072 dist\x3d12367\x3bdist\x3d13072 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs767852639 . . . . . . . . . . . . 7.1104 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . -2.537 -2.537000 . . 0.000000 . . 1.0E-246 . . . . . . . . . -2.537 . . . . . . 1 1538 10 1/0 0,242,255 +. 19 43879698 GAACAC G - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 deletion intron GRCh37 43879699 43879703 Chr19(GRCh37):g.43879699_43879703del 241-1036 241-1032 ENST00000606252.1:n.241-1036_241-1032del p.? p.? 3 2 -1032 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs779634967 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes GTGTT 255 Pass . . . . . . . . . . . . . . . . 0.3148148 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 108 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . . . . . . . . ENSG00000204933 . . . dist\x3d12219\x3bdist\x3d13060 dist\x3d12375\x3bdist\x3d13060 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . rs779634967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,50 +rs750799546 19 43879722 C T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879722 43879722 Chr19(GRCh37):g.43879722C>T 241-1055 241-1055 ENST00000606252.1:n.241-1055G>A p.? p.? 3 2 -1055 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs750799546 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -2.135 244 PASS . . . . . . . . . . . . . . . . 0.2857143 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 105.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.33 0.17 182 ENSG00000204933 . . . dist\x3d12242\x3bdist\x3d13041 dist\x3d12398\x3bdist\x3d13041 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs750799546 . . . . . . . . . . . . 3.0898 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.241 -2.241000 . . 0.000000 . . 1.0000000000000001E-244 . . . . . . . . . -2.241 . . . rs71339509 rs71339509 rs71339509 1 1538 10 1/0 0,242,255 +rs201729747 19 43879725 G T - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879725 43879725 Chr19(GRCh37):g.43879725G>T 241-1058 241-1058 ENST00000606252.1:n.241-1058C>A p.? p.? 3 2 -1058 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs201729747 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.000 -2.700 255 PASS . . . . . . . . . . . . . . . . 0.65789473 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 114.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.6045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.32 0.17 182 ENSG00000204933 . . . dist\x3d12245\x3bdist\x3d13038 dist\x3d12401\x3bdist\x3d13038 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs201729747 . . . . . . . . . . . . III.13 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.692 -2.692000 . . 0.000000 . . 1.0E-255 . . . . . . . . . -2.692 . . rs62113740 rs62113740 rs62113740 rs201729747 1 1538 10 1/0 0,255,255 +rs766823715 19 43879727 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879727 43879727 Chr19(GRCh37):g.43879727T>C 241-1060 241-1060 ENST00000606252.1:n.241-1060A>G p.? p.? 3 2 -1060 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs766823715 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.521 250 PASS . . . . . . . . . . . . . . . . 0.3063063 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 111.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.3666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.32 0.17 182 ENSG00000204933 . . . dist\x3d12247\x3bdist\x3d13036 dist\x3d12403\x3bdist\x3d13036 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs766823715 . . . . . . . . . . . . V.25 . ENST00000378007 0.955 -1.91 . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.492 -0.492000 . . 0.000000 . . 1.0E-250 . . . . . . . . . -0.492 . . . rs71339508 rs71339508 rs71339508 1 1538 10 1/0 0,241,255 +rs753905441 19 43879733 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879733 43879733 Chr19(GRCh37):g.43879733T>C 241-1066 241-1066 ENST00000606252.1:n.241-1066A>G p.? p.? 3 2 -1066 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 rs753905441 no no 0 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.020 0.690 248 PASS . . . . . . . . . . . . . . . . 0.2982456 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 114.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.3 0.16 182 ENSG00000204933 . . . dist\x3d12253\x3bdist\x3d13030 dist\x3d12409\x3bdist\x3d13030 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0 rs753905441 . . . . . . . . . . . . IV.13 . ENST00000378007 0.955 0.955 . 0.020000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.670 0.670000 . . 0.020000 . . 1.0E-248 . . . . . . . . . 0.670 . . . rs71339507 rs71339507 rs71339507 1 1538 10 1/0 0,239,255 +. 19 43879784 T C - CD177P1 34508 CD177 molecule pseudogene 1 ENST00000606252.1 -1 935 0 substitution intron GRCh37 43879784 43879784 Chr19(GRCh37):g.43879784T>C 241-1117 241-1117 ENST00000606252.1:n.241-1117A>G p.? p.? 3 2 -1117 3' 86.4037 11.1705 0.957646 X.57 86.4037 11.1705 0.957646 X.57 0 Cryptic Acceptor Strongly Activated 43879784 3.40454 0.046925 73.2597 4.68951 0.174318 77.1706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.924 253 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.26 0.12 182 ENSG00000204933 . . . dist\x3d12304\x3bdist\x3d12979 dist\x3d12460\x3bdist\x3d12979 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . V.62 . ENST00000378007 0.955 -1.91 . 0.320000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -0.939 -0.939000 . . 0.320000 . . 1.0E-253 . . . . . . . . . -0.939 . . . rs71339505 rs71339505 rs71339505 1 1538 10 1/0 0,249,255 +rs202141894 19 44514396 A G - ZNF230 13024 Zinc finger protein 230 NM_006300.3 1 4132 1425 NP_006291.2 Q9UIE0 substitution intron GRCh37 44514396 44514396 Chr19(GRCh37):g.44514396A>G 230-25 230-25 NM_006300.3:c.230-25A>G p.? p.? 5 4 -25 3' 85.9434 X.59 0.98835 9.99793 85.9434 X.59 0.98835 9.00263 0 44514396 -67.0856 rs202141894 yes no Frequency 1 A 0.000000 0 0.000787 0.000085 0.000517 0.014488 0.000000 0.000090 0.000633 0.000000 0.001294 0.014488 189 2 15 92 0 2 71 0 7 240194 23616 29006 6350 18136 22170 112078 23430 5408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 189 2 15 92 0 2 71 0 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8593 4406 12999 7 0 7 0.000813953 0 0.000538213 0.000813953 0 0.000538213 41 transition A G A>G 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.5151515 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||ZNF230|mRNA|CODING|NM_006300|) . 0.0005 0.0008 . 0.0005 0.0008 . -0.1334 . . . . . . . . 7.583e-04 . . . 0 0.0009 0.0009 0 0 0.0015 0 0.0002 0 0.0006 0.0008 0 0 0.0008 0 0.0002 . . . . . . intronic intronic intronic . . . @ . . . 0.28 0.14 182 ENSG00000159882 ZNF230 ZNF230 . . . . . . 39 0.000600222 64976 39 0.000650152 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202141894 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv469650 0.000538 . . . . . 0 0.0008 0.0005 0.0142 0 0 0.0006 0.0016 9.021e-05 0.0002 0.0005 0 0.02 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs202141894 rs202141894 1 1538 10 1/0 0,255,255 +rs8101750 19 44530390 T C - ZNF222 13015 Zinc finger protein 222 NM_001129996.1 1 1651 1476 NP_001123468.1 substitution intron GRCh37 44530390 44530390 Chr19(GRCh37):g.44530390T>C 42+760 42+760 NM_001129996.1:c.42+760T>C p.? p.? 1 1 617357 760 5' 71.8773 3.53307 0.292474 4.40152 71.8773 3.53307 0.292474 4.40152 0 rs8101750 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30919 8716 838 302 1622 0 14983 3480 978 30920 8716 838 302 1622 0 14984 3480 978 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15459 4358 419 151 811 0 7491 1740 489 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transition T C T>C 0.000 -2.781 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . -0.6478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.32 0.33 182 . ZNF222 ZNF222 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs8101750 0.989 0.986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs8101750 rs8101750 rs8101750 rs8101750 1 1538 255 1.I 0,0,255 +rs111731578 19 44871191 C T - ZNF112 12892 Zinc finger protein 112 NM_001348281.1 -1 3791 2793 NP_001335210.1 substitution intron GRCh37 44871191 44871191 Chr19(GRCh37):g.44871191C>T 17+50 17+50 NM_001348281.1:c.17+50G>A p.? p.? 1 1 603994 50 5' 95.6376 X.36 0.995247 9.22831 95.6376 X.36 0.995247 8.85105 0 rs111731578 yes no Frequency 1 C 0.000000 0 0.000613 0.001555 0.000083 0.000000 0.000360 0.000000 0.000678 0.002861 0.000703 0.002861 91 20 2 0 4 0 39 23 3 148542 12864 24182 8116 11120 22410 57546 8038 4266 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 91 20 2 0 4 0 39 23 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 184 PASS . . . . . . . . . . . . . . . . 0.12195122 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1918 . . . . . . . . 1.885e-03 . . . 0.0052 9.397e-05 0 0 . 0 0 0 0 0 0 0 . 0 0 0 . . . . . . intronic intronic intergenic . . . @ . . . 0.15 0.19 182 . ZFP112 . . . dist\x3d10335\x3bdist\x3d18617 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs111731578 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0028 0.0036 0.0030 0 0.0031 0.0083 0.0031 0.0038 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . 0.022 . . rs78078830 rs111731578 1 1538 10 1/0 0,237,255 +rs764861801 19 44871208 C T - ZNF112 12892 Zinc finger protein 112 NM_001348281.1 -1 3791 2793 NP_001335210.1 substitution intron GRCh37 44871208 44871208 Chr19(GRCh37):g.44871208C>T 17+33 17+33 NM_001348281.1:c.17+33G>A p.? p.? 1 1 603994 33 5' 95.6376 X.36 0.995247 9.22831 95.6376 X.36 0.995247 9.09091 0 rs764861801 yes no Frequency 1 C 0.000000 0 0.000220 0.000838 0.000041 0.000000 0.000090 0.000000 0.000223 0.000734 0.000232 0.000838 33 11 1 0 1 0 13 6 1 150034 13126 24276 8134 11164 22414 58424 8178 4318 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 33 11 1 0 1 0 13 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.004 0.528 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1179 . . . . . . . . 2.172e-04 . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . . . . . ZFP112 . . . dist\x3d10352\x3bdist\x3d18600 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs764861801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0015 0.0012 0.0014 0 0.0007 0.0021 0.0010 0.0012 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs750027308 19 44871213 G T - ZNF112 12892 Zinc finger protein 112 NM_001348281.1 -1 3791 2793 NP_001335210.1 substitution intron GRCh37 44871213 44871213 Chr19(GRCh37):g.44871213G>T 17+28 17+28 NM_001348281.1:c.17+28C>A p.? p.? 1 1 603994 28 5' 95.6376 X.36 0.995247 9.22831 95.6376 X.36 0.995247 8.94697 0 rs750027308 yes no Frequency 1 G 0.000000 0 0.000139 0.000588 0.000041 0.000000 0.000089 0.000000 0.000136 0.000362 0.000000 0.000588 21 8 1 0 1 0 8 3 0 151370 13594 24346 8154 11284 22426 58916 8288 4362 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 8 1 0 1 0 8 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 -1.328 177 PASS . . . . . . . . . . . . . . . . 0.10752688 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3379 . . . . . . . . 1.630e-04 . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . . . . . ZFP112 . . . dist\x3d10357\x3bdist\x3d18595 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs750027308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0010 0.0008 0.0014 0 0.0007 0.0010 0.0006 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,230,255 +rs761120171 19 45316530 C T - BCAM 6722 Basal cell adhesion molecule (Lutheran blood group) NM_005581.4 1 2453 1887 NP_005572.2 P50895 substitution synonymous exon GRCh37 45316530 45316530 Chr19(GRCh37):g.45316530C>T 528 528 NM_005581.4:c.528C>T p.Asn176= p.Asn176Asn 5 612773 24 3' 78.0721 10.1253 0.953453 VIII.55 78.0721 10.1253 0.953453 8.02312 0 CD80-like, immunoglobulin C2-set Immunoglobulin-like rs761120171 yes no Frequency 1 C 0.000000 0 0.000021 0.000000 0.000089 0.000000 0.000000 0.000000 0.000009 0.000000 0.000184 0.000089 5 0 3 0 0 0 1 0 1 243336 14878 33540 9790 17186 30754 109458 22288 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 3 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 PASS 72 Exomes transition C T C>T 0.047 -2.458 N Asn AAC 0.536 N Asn AAT 0.464 176 255 PASS . . . . . . . . . . . . . . . . 0.43925235 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.3096 . . . . . . . . 1.579e-05 . . . 0 1.153e-05 0 0 0 2.536e-05 0 0 0 1.929e-05 0 0.0001 0 1.892e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000187244 BCAM BCAM . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs761120171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.055e-05 8.945e-05 0 0 0 9.136e-06 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs267606661 19 45412358 C G - APOE 613 Apolipoprotein E NM_001302688.1 1 1297 1032 NP_001289617.1 substitution missense exon GRCh37 45412358 45412358 Chr19(GRCh37):g.45412358C>G 883 883 NM_001302688.1:c.883C>G p.Arg295Gly p.Arg295Gly 4 107741 569 3' 81.6489 X.61 0.891145 9.64515 81.6489 X.61 0.891145 9.64515 0 rs267606661 yes no Frequency 1 C pathogenic 0.000000 0 0.000363 0.000000 0.000714 0.000217 0.000000 0.000036 0.000483 0.000200 0.000894 0.000714 82 0 22 2 0 1 49 3 5 225982 19784 30798 9234 16472 27666 101412 15024 5592 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 82 0 22 2 0 1 49 3 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes CM973676 Hyperlipoproteinaemia 9279208 DM transversion C G C>G 0.961 0.932 R Arg CGC 0.190 G Gly GGC 0.342 295 11 9 Platypus -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 353.86 0.00 Deleterious 0 III.56 255 PASS . . . . . . . . . . . ENSG00000130203:ENST00000252486:exon4:c.C805G:p.R269G APOE:uc002pab.3:exon4:c.C805G:p.R269G . . . 0.50406504 . . germline 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.710 . Pathogenic Pathogenic RCV000019455.28 Familial_type_3_hyperlipoproteinemia MedGen:Orphanet:SNOMED_CT C0020479:ORPHA412:398796005 1 0.515 . . 123.0 . . . . . . . . . . -0.3425 -0.441 -0.342 c . . . . . 2.080e-04 . . . 0 0.0005 0.0005 0 0 0.0009 0 0.0001 0 0.0004 0.0005 0 0 0.0007 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.760 . . exonic exonic exonic . . 0.226 @ . . . 0.24 0.36 182 ENSG00000130203 APOE APOE . . . 0.596 0.217 . 16 0.000246245 64976 16 0.000266729 59986 Uncertain_significance . 0 . 0.238 . . . . D 0.887 0.241 . . 37 . 0.734 . . 0.706 . . . 0.640 0.381 . . . . 0 1 0 0 0 0 0 1 0 0 1 0.611 . . 0 0 0 0 1 0 . 0.362 . . 0.433 . . . . . . 0 0.682 . . . . . 0.224 . 0.779 . HET 0.01 rs267606661 . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dFamilial_type_3_hyperlipoproteinemia\x3bCLNACC\x3dRCV000019455.1 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dFamilial_type_3_hyperlipoproteinemia\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000019455.26\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0020479:398796005 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dFamilial_type_3_hyperlipoproteinemia\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000019455.26\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0020479:398796005 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dFamilial_type_3_hyperlipoproteinemia\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000019455.26\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0020479:398796005 . . . . . . 6.719 . ENST00000252486 3.VIII I.61 . 0.070000 P02649 . . . . . 0.289 . . . 0 0.0004 0.0007 0.0002 0 0.0002 0.0005 0.0011 3.615e-05 0 0.0002 0.0012 0 0 0.0003 0.0002 0 . . 0.408 . 0.250 0.250000 . . 0.070000 . . 1.0E-255 0.956 0.331 . 0.241 0.777 . 0.330 . 0.127 0.250 -0.006 . . . rs267606661 . 1 1538 10 1/0 0,250,255 +rs4803794 (chr19:45561063 A/G) 19 45561063 A G Transcript NM_007056.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) CLASRP +rs201502372 19 45683032 G T - BLOC1S3 20914 Biogenesis of lysosomal organelles complex 1 subunit 3 NM_212550.4 1 2601 609 NP_997715.1 Q6QNY0 substitution missense exon GRCh37 45683032 45683032 Chr19(GRCh37):g.45683032G>T 478 478 NM_212550.4:c.478G>T p.Val160Leu p.Val160Leu 2 609762 487 3' 76.4629 10.1318 0.990293 XII.35 76.4629 10.1318 0.990293 XII.35 0 BLOC-1 complex, subunit 3 rs201502372 yes no Frequency/1000G 2 G uncertain_significance,likely_benign 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.001616 0.000676 0.001753 0.003222 0.000000 0.000208 0.002396 0.000502 0.002426 0.003222 285 9 43 25 0 5 185 7 11 176316 13306 24528 7760 11030 24018 77208 13932 4534 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000026 0.000000 0.000000 1 0 0 0 0 0 1 0 0 283 9 43 25 0 5 183 7 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000430386.1|RCV000314918.1|RCV000372519.1 germline|germline|germline clinical testing|clinical testing|clinical testing Likely benign|Likely benign|VUS 1|1|1 not provided|not specified|Hermansky-Pudlak syndrome transversion G T G>T 1.000 0.932 V Val GTG 0.468 L Leu TTG 0.127 160 12 8 Cow 1 1 1 0 0 5.IX 4.IX 84 111 32 C0 234.99 IV.86 Tolerated 0.08 III.33 255 PASS . 0.0018 . . 0.01 . 0.0012 0.0029 . 0.004 . . . BLOC1S3:NM_212550:exon2:c.G478T:p.V160L . . 0.46153846 . . germline 42 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.358 . Likely//\@benign//\%//\@Uncertain//\@significance Likely_benign|Uncertain_significance RCV000314918.1|RCV000372519.1 not_specified|Hermansky-Pudlak_syndrome MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 1 0.258 . . 91.0 . . . . . . . . . . -0.3186 -0.226 -0.319 c . . . . . 1.216e-03 . . . 0.0010 0.0040 0.0095 0 0.0071 0.0100 0 0.0001 0.0011 0.0038 0.0066 0 0.0046 0.0083 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.270 0.0012 . . . 0.3 0.42 182 ENSG00000189114 BLOC1S3 BLOC1S3 . . . 1.000 0.747 . 135 0.00207769 64976 128 0.00213383 59986 Likely_benign . 0 . 0.308 . . . . . . . . . 37 . 0.073 . . 0.116 . . . 0.024 0.278 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.103 . . 0 0 0 0 0 0 . 0.384 . . 0.315 . . . . . . 0 0.070 . . . . . 0.106 . 0.449 . HET 0.44 rs201502372 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 IV.42 0.0 ENST00000433642 III.57 II.22 . 0.650000 Q6QNY0 . . . . . 0.301 . . II.22 0.0002 0.0017 0.0017 0.0034 0 0.0006 0.0025 0.0025 0.0002 0.0009 0.0014 0.0037 0 0 0.0003 0.0019 0.0020 . . 0.486 . 1.707 1.707000 . . 0.650000 . . 1.0E-255 1.000 0.715 . 0.552 0.998 . 0.423 . 0.378 1.707 0.609 0.01 . . rs201502372 rs201502372 1 1538 10 1/0 0,255,255 +rs201502372 19 45683032 G T - TRAPPC6A 23069 Trafficking protein particle complex 6A NM_024108.2 -1 811 522 NP_077013.1 substitution upstream GRCh37 45683032 45683032 Chr19(GRCh37):g.45683032G>T -1556 -1556 NM_024108.2:c.-1556C>A p.? p.? 1 610396 -1682 5' 81.9786 X.32 0.966479 11.191 81.9786 X.32 0.966479 11.191 0 rs201502372 yes no Frequency/1000G 2 G uncertain_significance,likely_benign 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.001616 0.000676 0.001753 0.003222 0.000000 0.000208 0.002396 0.000502 0.002426 0.003222 285 9 43 25 0 5 185 7 11 176316 13306 24528 7760 11030 24018 77208 13932 4534 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000026 0.000000 0.000000 1 0 0 0 0 0 1 0 0 283 9 43 25 0 5 183 7 11 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000314918.1|RCV000372519.1|RCV000430386.1 germline|germline|germline clinical testing|clinical testing|clinical testing Likely benign|VUS|Likely benign 1|1|1 not specified|Hermansky-Pudlak syndrome|not provided transversion C A C>A 1.000 0.932 255 PASS . 0.0018 . . 0.01 . 0.0012 0.0029 . 0.004 . . . BLOC1S3:NM_212550:exon2:c.G478T:p.V160L . . 0.46153846 . . germline 42 . . 1.2.2016 0 1 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.358 . Likely//\@benign//\%//\@Uncertain//\@significance Likely_benign|Uncertain_significance RCV000314918.1|RCV000372519.1 not_specified|Hermansky-Pudlak_syndrome MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 1 0.258 . . 91.0 . . . . . . . . . . -0.3186 -0.226 -0.319 c . . . . . 1.216e-03 . . . 0.0010 0.0040 0.0095 0 0.0071 0.0100 0 0.0001 0.0011 0.0038 0.0066 0 0.0046 0.0083 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.270 0.0012 . . . 0.3 0.42 182 ENSG00000189114 BLOC1S3 BLOC1S3 . . . 1.000 0.747 . 135 0.00207769 64976 128 0.00213383 59986 Likely_benign . 0 . 0.308 . . . . . . . . . 37 . 0.073 . . 0.116 . . . 0.024 0.278 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.103 . . 0 0 0 0 0 0 . 0.384 . . 0.315 . . . . . . 0 0.070 . . . . . 0.106 . 0.449 . HET 0.44 rs201502372 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 IV.42 0.0 ENST00000433642 III.57 II.22 . 0.650000 Q6QNY0 . . . . . 0.301 . . II.22 0.0002 0.0017 0.0017 0.0034 0 0.0006 0.0025 0.0025 0.0002 0.0009 0.0014 0.0037 0 0 0.0003 0.0019 0.0020 . . 0.486 . 1.707 1.707000 . . 0.650000 . . 1.0E-255 1.000 0.715 . 0.552 0.998 . 0.423 . 0.378 1.707 0.609 0.01 . . rs201502372 rs201502372 1 1538 10 1/0 0,255,255 +rs143780706 19 46005408 G A - PPM1N 26845 Protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) NM_001080401.1 1 1718 1293 NP_001073870.1 Q8N819 substitution 3'UTR GRCh37 46005408 46005408 Chr19(GRCh37):g.46005408G>A *65 *65 NM_001080401.1:c.*65G>A p.? p.? 5 134 3' 90.3357 8.30026 0.932802 7.47923 90.3357 8.30026 0.932802 7.47923 0 rs143780706 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.002000 0.001400 0.001054 0.000683 0.001133 0.000000 0.000000 0.000000 0.001827 0.000082 0.000563 0.001827 241 14 27 0 0 0 195 2 3 228590 20500 23828 9042 14870 23880 106740 24400 5330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 241 14 27 0 0 0 195 2 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3177 1383 4560 5 1 6 0.00157134 0.000722543 0.00131406 0.00157134 0.000722543 0.00131406 27 transition G A G>A 0.000 -0.602 255 PASS . 0.0005 . . 0.0013 . 0.0006 0.0014 . 0.002 . . . . . . 0.5588235 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.097 . @ . . . . . 2 0.288 . . 68.0 . . UTR_3_PRIME(MODIFIER||||PPM1N|mRNA|CODING|NM_001080401|NM_001080401.ex.5) 0.0007 0.0013 0.0016 0.0007 0.0013 0.0016 . -0.8841 -1.104 -0.884 c . . . . . 9.706e-04 . . . 0.0010 0.0014 0.0017 0 0 0.0023 0.0093 0 0.0010 0.0014 0.0018 0 0 0.0024 0.0047 0 nonsynonymous_SNV . . . . . exonic UTR3 UTR3 . . 0.044 0.0006 . . . 0.4 0.66 182 ENSG00000213889 PPM1N PPM1N . . NM_001080401:c.*65G>A 1.000 0.747 . 85 0.00130818 64976 82 0.00136699 59986 . . 0 . . . . . . T 0.002 0.001 . . 37 . 0.179 . . 0.290 . . . . 0.090 . . . . . . . . . . . . . . . 0.056 . . . . . . 0 . . . . . . . . . . . . 0 0.912 . . . . . 0.069 . 0.012 . HET 0 rs143780706 0.011 0.007 . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 III.22 0.0 . III.22 -3.51 . 0.450000 . . . . 0.001314 . 0.037 . . . 0.0007 0.0011 0.0011 0 0 9.539e-05 0.0019 0.0005 0 0.0007 0.0009 0.0012 0 0 0 0.0013 0.0010 . . 0.439 . -0.561 -0.561000 . . 0.450000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.054 . 0.121 -0.561 -0.980 0.011 . . rs143780706 rs143780706 1 1538 10 1/0 0,255,255 +. 19 46287477 T G - DMPK 2933 Dystrophia myotonica-protein kinase NM_001288764.1 -1 2933 1968 NP_001275693.1 substitution upstream GRCh37 46287477 46287477 Chr19(GRCh37):g.46287477T>G -1848 -1848 NM_001288764.1:c.-1848A>C p.? p.? 1 605377 -2027 5' 83.6222 7.93332 0.987092 8.32199 83.6222 7.93332 0.987092 8.32199 0 Cryptic Acceptor Strongly Activated 46287461 3.66861 0.03184 72.8372 6.29304 0.098236 72.8372 0.000552 0.001030 0.001053 0.000179 0.000436 0.000342 0.000392 0.000707 0.000947 0.001053 112 20 21 1 6 7 39 14 4 202730 19420 19948 5596 13776 20456 99504 19804 4226 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 20 21 1 6 7 39 14 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.031 -1.651 209 PASS . . . . . . . . . . . . DMWD:uc021uwc.1:exon2:c.A935C:p.Q312P . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . . . . . . . . . 0.0423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . . . . ENSG00000185800 DMWD DMWD . . NM_004943:c.*24A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0010 0.0002 0.0005 0 0.0002 0 0.0003 0.0030 0.0029 0.0037 0 0 0.0080 0.0023 0.0062 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 19 46287477 T G - DMWD 2936 Dystrophia myotonica, WD repeat containing NM_004943.1 -1 3308 2025 NP_004934.1 Q09019 substitution 3'UTR GRCh37 46287477 46287477 Chr19(GRCh37):g.46287477T>G *24 *24 NM_004943.1:c.*24A>C p.? p.? 5 609857 72 3' 86.6397 XI.61 0.981333 13.0375 86.6397 XI.61 0.981333 13.1647 0 Cryptic Acceptor Strongly Activated 46287461 3.66861 0.03184 72.8372 6.29304 0.098236 72.8372 0.000552 0.001030 0.001053 0.000179 0.000436 0.000342 0.000392 0.000707 0.000947 0.001053 112 20 21 1 6 7 39 14 4 202730 19420 19948 5596 13776 20456 99504 19804 4226 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 112 20 21 1 6 7 39 14 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.031 -1.651 209 PASS . . . . . . . . . . . . DMWD:uc021uwc.1:exon2:c.A935C:p.Q312P . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . . . . . . . . . 0.0423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . UTR3 exonic UTR3 . . . @ . . . . . . ENSG00000185800 DMWD DMWD . . NM_004943:c.*24A>C . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0010 0.0002 0.0005 0 0.0002 0 0.0003 0.0030 0.0029 0.0037 0 0 0.0080 0.0023 0.0062 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 19 46393971 T G - MYPOP 20178 Myb-related transcription factor, partner of profilin NM_001012643.3 -1 1887 1200 NP_001012661.1 Q86VE0 substitution synonymous exon GRCh37 46393971 46393971 Chr19(GRCh37):g.46393971T>G 1110 1110 NM_001012643.3:c.1110A>C p.Pro370= p.Pro370Pro 3 617861 611 3' 90.3894 12.1364 0.988282 14.9236 90.3894 12.1364 0.988282 14.9236 0 0.002043 0.000193 0.005706 0.003298 0.001284 0.005739 0.001314 0.001363 0.002383 0.005739 210 2 41 10 9 60 66 17 5 102814 10348 7186 3032 7010 10454 50216 12470 2098 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 210 2 41 10 9 60 66 17 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM3748059|COSM3748059 Central nervous system|Breast 0.000416|0.000408 2405|2453 transversion A C A>C 0.079 -0.117 P Pro CCA 0.274 P Pro CCC 0.328 370 187 PASS . . . . . . . . . . . ENSG00000176182:ENST00000322217:exon3:c.A1110C:p.P370P MYPOP:uc002pdt.3:exon3:c.A1110C:p.P370P MYPOP:NM_001012643:exon3:c.A1110C:p.P370P . . 0.13157895 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 38.0 . . . . . . . . . . 0.5350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000176182 MYPOP MYPOP . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0024 0.0060 0.0035 0.0016 0.0013 0.0015 0.0024 0.0057 0 0.0003 0 0 0 0.0019 0.0001 0.0023 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs779773202 19 48306910 G T - TPRX1 32174 Tetra-peptide repeat homeobox 1 NM_198479.2 -1 1839 1236 NP_940881.2 Q8N7U7 substitution upstream GRCh37 48306910 48306910 Chr19(GRCh37):g.48306910G>T -120 -120 NM_198479.2:c.-120C>A p.? p.? 1 611166 -150 5' 74.6149 5.05587 0.214644 7.63008 74.6149 5.05587 0.214644 7.63008 0 rs779773202 yes no Frequency 1 G 0.000000 0 0.000400 0.000000 0.000342 0.000223 0.000637 0.000446 0.000572 0.000133 0.000000 0.000637 48 0 7 1 7 6 26 1 0 120144 14202 20474 4476 10984 13446 45482 7546 3534 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 48 0 7 1 7 6 26 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C A C>A 0.000 0.125 255 PASS . . . . . . . . . . . ENSG00000178928:ENST00000535759:exon3:c.C172A:p.P58T . . . . 0.4526316 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.068 . @ . . . . . 3 0.026 . . 95.0 . . UPSTREAM(MODIFIER||||TPRX1|mRNA|CODING|NM_198479|) . . . . . . . -0.6742 -0.905 -0.674 c . . . . . 1.343e-04 . . . 0 0 0 0 . 0 0 0 0 0 0 0 . 0 0 0 nonsynonymous_SNV . . 0.955 . . exonic UTR5 upstream . . 0.149 @ . . . 0.56 0.43 182 ENSG00000178928 TPRX1 TPRX1 . uc002php.2:c.-120C>A . 0.001 0.076 . . . . . . . . . 0 . . . . . . D 0.585 0.039 . . 37 . 0.921 . . 0.847 . . . . 0.090 . . . . . . . . . . . . . . . 0.399 . . . . . . 0 . . . . . . . . . . . . 0 0.316 . . . . . 0.159 . 0.003 . HET . rs779773202 . . . . . . . . . . . . V.03 . ENST00000535759 1.IV 0.284 . 0.110000 . . . . . . 0.050 . . . 0 0.0003 0.0004 0 0.0005 0 0.0003 0 0.0004 0 0.0007 0 0.0036 0.0014 0.0003 0.0013 0 . . 0.133 . 0.154 0.154000 . . 0.110000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.011 . 0.026 0.154 -0.629 . rs296397 rs296397 rs296397 rs296397 1 1538 10 1/0 0,255,255 +rs1654377 19 48613788 T G - PLA2G4C 9037 Phospholipase A2, group IVC (cytosolic, calcium-independent) NM_001159322.1 -1 2493 1656 NP_001152794.1 substitution 5'UTR GRCh37 48613788 48613788 Chr19(GRCh37):g.48613788T>G -16 -16 NM_001159322.1:c.-16A>C p.? p.? 1 603602 -45 5' 91.7934 0 0 0 91.7934 0 0 0 0 rs1654377 yes no Frequency/1000G 2 T 0.000000 0 transversion A C A>C 0.000 0.448 223 PASS . . . . . . . . . . . . . . . . 0.225 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . . . . . . . . . 0.0816 . . . . . . . . 3.245e-04 . . . 0.0056 0.0006 0.0034 0 0 0.0002 0 0.0003 0.0079 0.0007 0.0048 0 0 0 0 0.0003 . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.5 0.38 182 ENSG00000105499 PLA2G4C PLA2G4C . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1654377 0.163 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . 0.16 rs1654377 rs1654377 rs1654377 rs1654377 1 1538 10 1/0 0,255,255 +rs192906611 19 48620748 T C - LIG1 6598 Ligase I, DNA, ATP-dependent NM_000234.2 -1 3384 2760 NP_000225.1 P18858 substitution intron GRCh37 48620748 48620748 Chr19(GRCh37):g.48620748T>C 2583+147 2583+147 NM_000234.2:c.2583+147A>G p.? p.? 26 26 126391 147 5' 87.1266 10.0978 0.914081 XI.53 87.1266 10.0978 0.914081 XI.53 0 rs192906611 yes no Frequency/1000G 2 T 0.000000 0 0.001398 0.000000 0.001000 0.000000 0.004000 0.002900 0.003810 0.001260 0.007160 0.023179 0.000000 0.000000 0.005863 0.000573 0.004073 0.023179 118 11 6 7 0 0 88 2 4 30972 8728 838 302 1620 0 15010 3492 982 0.008475 0.000000 0.000000 0.000000 0.000000 0.000000 0.011364 0.000000 0.000000 1 0 0 0 0 0 1 0 0 116 11 6 7 0 0 86 2 4 0 0 0 0 0 0 0 0 0 PASS 44 Genomes transition A G A>G 0.000 0.448 255 PASS . 0.0018 0.01 . 0.0026 . 0.0014 0.0029 . 0.004 0.001 . . . . . 0.6315789 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . . . . . . . . . -0.0247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.3 0.19 182 ENSG00000105486 LIG1 LIG1 . . . . . . 358 0.00550973 64976 351 0.00585137 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs192906611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0038 0.0072 0.0232 0 0.0006 0.0059 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs192906611 rs192906611 1 1538 10 1/0 0,255,255 +. 19 49002814 C G - LMTK3 19295 Lemur tyrosine kinase 3 NM_001080434.1 -1 4972 4470 NP_001073903.1 substitution synonymous exon GRCh37 49002814 49002814 Chr19(GRCh37):g.49002814C>G 1599 1599 NM_001080434.1:c.1599G>C p.Pro533= p.Pro533Pro 12 361 3' 81.1391 X.88 0.972134 13.2748 81.1391 X.88 0.972134 13.2748 0 Serine/threonine- / dual-specificity protein kinase, catalytic domain 0.000021 0.000209 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 0.000000 0.000209 2 1 0 0 0 1 0 0 0 95298 4792 15390 4560 7538 16416 32424 11644 2534 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Exomes transversion G C G>C 0.661 -1.732 P Pro CCG 0.115 P Pro CCC 0.328 533 213 PASS . . . . . . . . . . . . LMTK3:uc002pjk.3:exon12:c.G1599C:p.P533P LMTK3:NM_001080434:exon12:c.G1599C:p.P533P . . 0.19642857 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 56.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccC|P533|LMTK3|mRNA|CODING|NM_001080434|NM_001080434.ex.12) . . . . . . . 0.1490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000142235 LMTK3 LMTK3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 2.099e-05 0 0 0 0 0 0 6.092e-05 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 19 49176494 C T - NTN5 25208 Netrin 5 NM_145807.2 -1 1910 1470 NP_665806.1 Q8WTR8 substitution upstream GRCh37 49176494 49176494 Chr19(GRCh37):g.49176494C>T -326 -326 NM_145807.2:c.-326G>A p.? p.? 1 -306 5' 74.9319 5.63057 0.402121 5.51238 74.9319 5.63057 0.402121 5.51238 0 rs912121155 no no 0 C 0.000000 0 0.000016 0.000000 0.000042 0.000000 0.000101 0.000000 0.000000 0.000000 0.000000 0.000101 2 0 1 0 1 0 0 0 0 127198 6162 23668 7970 9912 22512 48116 5292 3566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 50 Exomes transition G A G>A 0.024 0.528 255 PASS . . . . . . . . . . . . . . . . 0.4888889 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 45.0 . . . . . . . . . . 0.7945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000232871 SEC1P SEC1P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.572e-05 4.225e-05 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 19 49176494 C T - SEC1P 44149 Secretory blood group 1, pseudogene NR_004401.2 1 2649 0 substitution exon GRCh37 49176494 49176494 Chr19(GRCh37):g.49176494C>T 398 398 NR_004401.2:n.398C>T 4 -31 5' 84.5905 9.78584 0.952683 9.96421 84.5905 9.78584 0.952683 9.84309 0 rs912121155 no no 0 C 0.000000 0 0.000016 0.000000 0.000042 0.000000 0.000101 0.000000 0.000000 0.000000 0.000000 0.000101 2 0 1 0 1 0 0 0 0 127198 6162 23668 7970 9912 22512 48116 5292 3566 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 50 Exomes transition C T C>T 0.024 0.528 255 PASS . . . . . . . . . . . . . . . . 0.4888889 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 45.0 . . . . . . . . . . 0.7945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000232871 SEC1P SEC1P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.572e-05 4.225e-05 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs1800022 19 49206625 C T - FUT2 4013 Fucosyltransferase 2 (secretor status included) NM_000511.5 1 3099 1032 NP_000502.4 Q10981 substitution missense exon GRCh37 49206625 49206625 Chr19(GRCh37):g.49206625C>T 412 412 NM_000511.5:c.412C>T p.Arg138Cys p.Arg138Cys 2 182100 414 3' 79.6118 9.60142 0.907165 2.56105 79.6118 9.60142 0.907165 2.56105 0 Glycosyl transferase, family 11 rs1800022 yes no Frequency/1000G 2 C 0.000000 0 0.002995 0.000800 0.000000 0.000000 0.008900 0.007200 0.006176 0.001713 0.004765 0.007691 0.000053 0.000458 0.009655 0.005700 0.006665 0.009655 1707 41 164 78 1 14 1219 147 43 276400 23928 34416 10142 18854 30560 126260 25788 6452 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000000 0.000000 6 0 0 0 0 0 6 0 0 1695 41 164 78 1 14 1207 147 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8509 4398 12907 89 6 95 0.0103512 0.0013624 0.00730657 0.0103512 0.0013624 0.00730657 46 CM983741 Fucosyltransferase deficiency 9760207 DM transition C T C>T 1.000 1.739 R Arg CGC 0.190 C Cys TGC 0.552 138 12 11 Platypus -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C25 85.11 126.72 Deleterious 0 III.73 255 PASS 0.002 0.01 0.01 . 0.01 0.0008 0.003 0.0072 . 0.0089 . . . . . . 0.35789475 . . @ 102 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.850 . @ . . . . . 1 0.983 . . 285.0 . . . 0.0014 0.0073 0.01 0.0014 0.0073 0.01 . 0.5279 0.417 0.528 c . . . . . 6.115e-03 . . . 0.0013 0.0058 0.0038 0.0004 0.0066 0.0103 0.0043 0.0004 0.0011 0.0060 0.0037 0.0003 0.0059 0.0098 0.0043 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.967 . . exonic exonic exonic . . 0.613 0.0030 . . . 0.24 0.24 182 ENSG00000176920 FUT2 FUT2 . . . 0.006 0.112 . 618 0.0095112 64976 603 0.0100523 59986 Benign . 0 . . . . . . . . . . . 37 . 0.968 . . 0.955 . . . 0.855 0.413 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.763 . . 0 0 0 0 0 0 . 0.899 . . 0.706 . . . . . . 0 0.682 . . . . . 0.463 . 0.603 . HET 0.02 rs1800022 . . . . . . . 0.005494505494505495 0.0020325203252032522 0.011049723756906077 0.0 0.009234828496042216 10.938 0.001606 . IV.81 IV.81 . 0.010000 Q10981 . . . 0.007307 . 0.327 . . IV.81 0.0014 0.0062 0.0048 0.0074 5.802e-05 0.0057 0.0098 0.0066 0.0005 0.0022 0.0059 0.0036 0.0166 0 0.0057 0.0085 0.0072 . . 0.372 . 2.384 2.384000 . . 0.010000 . . 1.0E-255 0.998 0.411 . 0.235 0.456 . 0.230 . 0.342 2.384 0.871 0.01 rs1800022 rs1800022 rs1800022 rs1800022 1 1538 10 1/0 0,205,250 +rs374527098 19 49520377 C G - LHB 6584 Luteinizing hormone beta polypeptide NM_000894.2 -1 523 426 NP_000885.1 P01229 substitution upstream GRCh37 49520377 49520377 Chr19(GRCh37):g.49520377C>G -39 -39 NM_000894.2:c.-39G>C p.? p.? 1 152780 -54 5' 94.6711 X.63 0.998994 11.1597 94.6711 X.63 0.998994 11.1069 0 rs374527098 yes no Frequency 1 C 0.000000 0 transversion G C G>C 0.039 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.53696495 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 257.0 . . . . . . . . . . 0.7885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.28 0.22 182 ENSG00000104826 LHB LHB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374527098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,229 +rs374527098 19 49520377 C G - RUVBL2 10475 RuvB-like AAA ATPase 2 NM_006666.2 1 2009 1392 NP_006657.1 Q9Y230 substitution downstream GRCh37 49520377 49520377 Chr19(GRCh37):g.49520377C>G *1278 *1278 NM_006666.2:c.*1278C>G p.? p.? 15 604788 1304 3' 82.848 XI.32 0.97026 14.634 82.848 XI.32 0.97026 14.634 0 New Acceptor Site 49520378 4.08883 0.341827 70.5475 rs374527098 yes no Frequency 1 C 0.000000 0 transversion C G C>G 0.039 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.53696495 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 257.0 . . . . . . . . . . 0.7885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.28 0.22 182 ENSG00000104826 LHB LHB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374527098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,229 +rs561572172 19 49893931 C T - CCDC155 26520 Coiled-coil domain containing 155 NM_144688.4 1 2383 1689 NP_653289.3 Q8N6L0 substitution intron GRCh37 49893931 49893931 Chr19(GRCh37):g.49893931C>T -210 -210 NM_144688.4:c.-95-115C>T p.? p.? 2 1 -115 3' 92.4077 XII.65 0.983478 13.4726 92.4077 XII.65 0.983478 13.4726 0 rs561572172 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.000550 0.000459 0.001193 0.003311 0.000000 0.000000 0.000668 0.000000 0.001020 0.003311 17 4 1 1 0 0 10 0 1 30914 8708 838 302 1622 0 14974 3490 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 4 1 1 0 0 10 0 1 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition C T C>T 0.000 -0.682 255 PASS . . . . . . 0.0004 . . 0.002 . . . . . . 0.41666666 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.2641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000161609 CCDC155 CCDC155 . . . . . . 12 0.000184684 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs561572172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0005 0.0012 0.0033 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs184278008 19 50099569 C T - PRR12 29217 Proline rich 12 NM_020719.2 1 6955 6111 NP_065770.1 substitution synonymous exon GRCh37 50099569 50099569 Chr19(GRCh37):g.50099569C>T 1977 1977 NM_020719.2:c.1977C>T p.Asp659= p.Asp659Asp 4 616633 1616 3' 84.7275 6.75997 0.832813 6.69129 84.7275 6.75997 0.832813 6.69129 0 rs184278008 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.000000 0.003100 0.000000 0.001000 0.002900 0.000722 0.000217 0.001816 0.000101 0.000000 0.000752 0.000812 0.000000 0.000635 0.001816 194 5 62 1 0 23 99 0 4 268858 23044 34148 9890 18682 30594 121902 24298 6300 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 192 5 62 1 0 23 97 0 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8104 3790 11894 8 0 8 0.000986193 0 0.000672156 0.000986193 0 0.000672156 15 transition C T C>T 0.079 -1.893 D Asp GAC 0.539 D Asp GAT 0.461 659 255 PASS . 0.0005 0.0028 . . . 0.0012 0.0029 . 0.001 0.0031 ENSG00000126464:ENST00000418929:exon4:c.C1977T:p.D659D PRR12:uc002poo.4:exon4:c.C1977T:p.D659D PRR12:NM_020719:exon4:c.C1977T:p.D659D . . 0.49473685 . . @ 47 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 95.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D659|PRR12|mRNA|CODING|NM_020719|NM_020719.ex.4) . 0.0007 0.001 . 0.0007 0.001 . 0.9335 . . . . . . . . 6.521e-04 . . . 0 0.0007 0.0014 0 0.0003 0.0007 0 0.0008 0 0.0007 0.0013 0 0.0002 0.0009 0.0017 0.0008 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0012 . . . 0.34 0.23 182 ENSG00000126464 PRR12 PRR12 . . . . . . 44 0.000677173 64976 38 0.000633481 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs184278008 . . . . . . . . . . . . . . . . . . . . . . . 0.000672 . . . . . 6.97e-05 0.0008 0.0019 0.0001 0 0 0.0008 0.0008 0.0008 0.0005 0.0005 0 0 0 0 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs184278008 rs184278008 1 1538 10 1/0 0,255,255 +rs8109529 19 50250872 G A - TSKS 30719 Testis-specific serine kinase substrate NM_021733.1 -1 1812 1779 NP_068379.1 Q9UJT2 substitution intron GRCh37 50250872 50250872 Chr19(GRCh37):g.50250872G>A 580-143 580-143 NM_021733.1:c.580-143C>T p.? p.? 5 4 608253 -143 3' 75.9216 7.38865 0.054064 5.46199 75.9216 7.38865 0.054064 5.46199 0 rs8109529 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 1.000000 1.000000 1.000000 0.000000 0.999933 1.000000 1.000000 1.000000 30961 8732 836 302 1622 0 14997 3492 980 30962 8732 836 302 1622 0 14998 3492 980 0.499984 0.500000 0.500000 0.500000 0.500000 0.000000 0.499967 0.500000 0.500000 15480 4366 418 151 811 0 7498 1746 490 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Genomes transition C T C>T 0.000 -0.844 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . INTRON(MODIFIER||||TSKS|mRNA|CODING|NM_021733|) . . . . . . . -0.3450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.34 0.37 182 ENSG00000126467 TSKS TSKS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs8109529 1.000 1.000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs8109529 rs8109529 rs8109529 rs8109529 1 1538 255 1.I 0,0,255 +rs188257265 19 50333489 C T - MED25 28845 Mediator complex subunit 25 NM_030973.3 1 2343 2244 NP_112235.2 Q71SY5 substitution intron GRCh37 50333489 50333489 Chr19(GRCh37):g.50333489C>T 819+14 819+14 NM_030973.3:c.819+14C>T p.? p.? 7 7 610197 14 5' 84.8076 9.98517 0.989819 X.46 84.8076 9.98517 0.989819 IX.06 0 Cryptic Acceptor Strongly Activated 50333496 0.393355 0.001192 73.0628 0.877217 0.002711 74.5735 rs188257265 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.005000 0.005800 0.001516 0.000258 0.002205 0.012089 0.000108 0.000000 0.001465 0.000168 0.003342 0.012089 404 6 75 120 2 0 176 4 21 266526 23286 34016 9926 18596 30406 120162 23850 6284 0.000015 0.000000 0.000059 0.000201 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 1 1 0 0 0 0 0 400 6 73 118 2 0 176 4 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8385 4173 12558 9 1 10 0.00107219 0.000239578 0.000795672 0.00107219 0.000239578 0.000795672 15 transition C T C>T 0.000 -0.360 255 PASS . 0.0023 0.01 . 0.004 . 0.0018 0.0058 . 0.005 . . . . . . 0.5625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . 0.0002 0.0008 0.0011 0.0002 0.0008 0.0011 . -0.0748 . . . . . . . . 1.173e-03 . . . 0.0004 0.0015 0.0022 0 0.0006 0.0023 0.0078 0 0.0004 0.0013 0.0022 0 0.0005 0.0018 0.0095 0 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.52 0.2 182 ENSG00000104973 MED25 MED25 . . . . . . 85 0.00130818 64976 76 0.00126696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188257265 . . . . . . . . . . . . . . . . . . . . . . . 0.000796 . . . . . 0.0002 0.0016 0.0022 0.0119 0.0001 0.0002 0.0014 0.0036 0 0.0003 0.0012 0.0024 0.0166 0 0 0.0016 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188257265 rs188257265 1 1538 10 1/0 0,255,255 +rs188257265 19 50333489 C T - MIR6800 50042 MicroRNA 6800 NR_106858.1 1 82 0 substitution upstream GRCh37 50333489 50333489 Chr19(GRCh37):g.50333489C>T -1786 -1786 NR_106858.1:n.-1786C>T p.? p.? 1 rs188257265 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000000 0.000000 0.000000 0.005000 0.005800 0.001516 0.000258 0.002205 0.012089 0.000108 0.000000 0.001465 0.000168 0.003342 0.012089 404 6 75 120 2 0 176 4 21 266526 23286 34016 9926 18596 30406 120162 23850 6284 0.000015 0.000000 0.000059 0.000201 0.000000 0.000000 0.000000 0.000000 0.000000 2 0 1 1 0 0 0 0 0 400 6 73 118 2 0 176 4 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8385 4173 12558 9 1 10 0.00107219 0.000239578 0.000795672 0.00107219 0.000239578 0.000795672 15 transition C T C>T 0.000 -0.360 255 PASS . 0.0023 0.01 . 0.004 . 0.0018 0.0058 . 0.005 . . . . . . 0.5625 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . 0.0002 0.0008 0.0011 0.0002 0.0008 0.0011 . -0.0748 . . . . . . . . 1.173e-03 . . . 0.0004 0.0015 0.0022 0 0.0006 0.0023 0.0078 0 0.0004 0.0013 0.0022 0 0.0005 0.0018 0.0095 0 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.52 0.2 182 ENSG00000104973 MED25 MED25 . . . . . . 85 0.00130818 64976 76 0.00126696 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188257265 . . . . . . . . . . . . . . . . . . . . . . . 0.000796 . . . . . 0.0002 0.0016 0.0022 0.0119 0.0001 0.0002 0.0014 0.0036 0 0.0003 0.0012 0.0024 0.0166 0 0 0.0016 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188257265 rs188257265 1 1538 10 1/0 0,255,255 +rs769581557 19 50461820 T G - SIGLEC11 15622 Sialic acid binding Ig-like lectin 11 NM_052884.2 -1 3165 2097 NP_443116.2 Q96RL6 substitution synonymous exon GRCh37 50461820 50461820 Chr19(GRCh37):g.50461820T>G 1371 1371 NM_052884.2:c.1371A>C p.Pro457= p.Pro457Pro 8 607157 8 3' 78.8376 14.0681 0.982656 14.0836 78.8376 14.0681 0.988455 13.9262 0.00196712 rs769581557 yes no Frequency 1 T 0.000000 0 0.000025 0.000043 0.000000 0.000000 0.000000 0.000000 0.000045 0.000000 0.000000 0.000045 6 1 0 0 0 0 5 0 0 241742 23186 28638 6820 18074 23738 112068 23718 5500 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.008 -2.781 P Pro CCA 0.274 P Pro CCC 0.328 457 178 PASS . . . . . . . . . . . ENSG00000161640:ENST00000447370:exon8:c.A1371C:p.P457P SIGLEC11:uc010ybh.2:exon8:c.A1371C:p.P457P SIGLEC11:NM_052884:exon8:c.A1371C:p.P457P . . 0.10828026 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 157.0 . . . . . . . . . . -0.2545 . . . . . . . . 2.371e-05 . . . 0 1.282e-05 0 0 0 2.688e-05 0 0 0 2.138e-05 0 0 0 4.03e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000161640 SIGLEC11 SIGLEC11 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs769581557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0001 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +. 19 50461831 TG T - SIGLEC11 15622 Sialic acid binding Ig-like lectin 11 NM_052884.2 -1 3165 2097 NP_443116.2 Q96RL6 deletion splice site GRCh37 50461832 50461832 Chr19(GRCh37):g.50461832del 1364-5 1364-5 NM_052884.2:c.1364-5del p.? p.? 8 7 607157 -5 3' 78.8376 14.0681 0.982656 14.0836 78.1868 13.1633 0.929517 14.0499 -0.0422147 rs781322471 yes no Frequency 1 G 0.000000 0 0.000039 0.000043 0.000000 0.000000 0.000000 0.000000 0.000064 0.000044 0.000000 0.000064 9 1 0 0 0 0 7 1 0 233650 23142 27510 5996 17878 22138 108722 22980 5284 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 1 0 0 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8179 4251 12430 69 13 82 0.00836566 0.00304878 0.00655371 0.00836566 0.00304878 0.00655371 25 C 255 Pass . . . . . . . . . . . . . . . . 0.11004785 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 209 . . . 0.003 0.006 0.0075 0.003 0.0066 0.0084 . . . . . . . . . . 5.533e-05 . . . 0 3.866e-05 0 0 0 8.086e-05 0 0 0 4.306e-05 0 0 0 8.117e-05 0 0 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000161640 SIGLEC11 SIGLEC11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs781322471 . . . . . . . . . . . . . . . . . . . . . . . 0.005993 . . . . . 0 0 0 0 0 0 0 0 0 0.0001 0.0003 0 0 0 0.0003 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0075 . . . . 1 1538 10 1.I 0,4,96 +rs71353353 19 50473279 A C - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution exon GRCh37 50473279 50473279 Chr19(GRCh37):g.50473279A>C 298 298 NR_002825.1:n.298A>C 2 -170 5' 84.8076 9.98517 0.975199 6.65999 84.8076 9.98517 0.975199 6.65999 0 rs71353353 yes no Frequency/1000G 2 A 0.000000 0 0.024960 0.006800 0.011200 0.078400 0.012900 0.018700 0.003205 0.003561 0.003900 0.009595 0.008242 0.004795 0.001934 0.000439 0.003479 0.009595 825 79 129 91 128 140 226 11 21 257440 22186 33074 9484 15530 29198 116886 25046 6036 0.001010 0.000000 0.001088 0.002531 0.004250 0.001986 0.000548 0.000080 0.001657 130 0 18 12 33 29 32 1 5 565 79 93 67 62 82 162 9 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 0.125 179 PASS . . . . . 0.0068 0.025 0.019 0.078 0.013 0.011 . . . . . 0.11029412 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 136.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gCa|E118A|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.2) . . . . . . . -0.7200 . . . . . . . . 4.296e-03 . . . 0.0052 0.0032 0.0040 0.0035 0 0.0026 0.0065 0.0033 0.0052 0.0028 0.0040 0.0024 0.0002 0.0024 0.0047 0.0033 . . . . . . ncRNA_exonic intergenic ncRNA_exonic . . . 0.0250 . . . 0.24 0.22 182 ENSG00000161643 . SIGLEC16 . dist\x3d8850\x3bdist\x3d1280 . . . . 446 0.00686407 64976 415 0.00691828 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.12 rs71353353 . . . . . . . . . . . . 5.0454 . . I.92 0.703 . 0.260000 . . . . . . . . . . 0.0037 0.0034 0.0040 0.0098 0.0087 0.0005 0.0020 0.0039 0.0048 0.0034 0.0018 0.0013 0.0039 0.0018 0 0.0012 0.0012 . . . . 0.144 0.144000 . . 0.260000 . . 1.0E-179 . . . . . . . . . 0.144 . . . rs71353353 rs71353353 rs71353353 1 1538 10 1/0 0,214,255 +. 19 50474293 G A - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474293 50474293 Chr19(GRCh37):g.50474293G>A 513+668 513+668 NR_002825.1:n.513+668G>A p.? p.? 3 3 668 5' 0 0 0 0 0 0 0 0 0 0.003938 0.000661 0.000000 0.000000 0.000000 0.000000 0.002547 0.009953 0.003597 0.009953 26 1 0 0 0 0 7 17 1 6602 1512 172 44 140 0 2748 1708 278 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 1 0 0 0 0 7 17 1 0 0 0 0 0 0 0 0 0 RF 45 Genomes transition G A G>A 0.000 -0.279 251 PASS . . . . . . . . . . . . . . . . 0.3090909 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . INTRON(MODIFIER||||SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|) . . . . . . . -0.1604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic upstream ncRNA_intronic . . . @ . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0039 0 0 0 0.0100 0.0025 0.0036 . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 19 50474398 G A - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474398 50474398 Chr19(GRCh37):g.50474398G>A 513+773 513+773 NR_002825.1:n.513+773G>A p.? p.? 3 3 773 5' 0 0 0 0 0 0 0 0 0 0.000079 0.000000 0.000176 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000176 5 0 2 0 0 0 3 0 0 63342 9132 11378 1420 7984 7004 22538 2094 1792 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 2 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.861 219 PASS . . . . . . . . . . . . . . . . 0.21428572 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T276|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -1.6790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . 0.19 0.22 182 ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.19 . . . . . . . . . . . . . V.08 . . 1.IX -3.8 . 0.380000 . . . . . . . . . . 0 5.615e-05 0.0002 0 0 0 5.355e-05 0 0 0 0.0002 0 0 0 0 0.0005 0 . . . . -2.808 -2.808000 . . 0.380000 . . 1.0E-219 . . . . . . . . . -2.808 . . . . rs112095721 rs112095721 1 1538 10 1/0 0,255,255 +. 19 50474491 G A - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474491 50474491 Chr19(GRCh37):g.50474491G>A 513+866 513+866 NR_002825.1:n.513+866G>A p.? p.? 3 3 866 5' 0 0 0 0 0 0 0 0 0 0.000014 0.000000 0.000052 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000052 2 0 1 0 0 0 1 0 0 143874 17332 19270 4284 12144 18874 56788 11618 3564 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 0.205 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R307|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -0.7749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.63 . . . . . . . . . . . . . III.21 . . I.54 0.425 . 0.580000 . . . . . . . . . . 0 1.712e-05 5.402e-05 0 0 0 2.249e-05 0 0 0 0 0 0 0 0 0 0 . . . . 0.186 0.186000 . . 0.580000 . . 1.0E-193 . . . . . . . . . 0.186 . . . . . . 1 1538 10 1/0 0,222,255 +rs779586136 19 50474514 C T - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474514 50474514 Chr19(GRCh37):g.50474514C>T 513+889 513+889 NR_002825.1:n.513+889C>T p.? p.? 3 3 889 5' 0 0 0 0 0 0 0 0 0 rs779586136 yes no Frequency 1 C 0.000000 0 0.000421 0.003345 0.000133 0.000000 0.000000 0.000000 0.000042 0.000244 0.000000 0.003345 73 63 3 0 0 0 3 4 0 173382 18836 22516 4910 13810 21032 71818 16414 4046 0.000023 0.000212 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 69 59 3 0 0 0 3 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.086 208 PASS . . . . . . . . . . . . . . . . 0.1796875 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 128.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T315I|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -0.1257 . . . . . . . . 3.377e-05 . . . 0.0007 0.0002 0 0 0 0.0002 0 0 0.0010 0.0001 0 0 0 0 0 0 . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . @ . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs779586136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0002 0.0001 0 0 0.0003 3.384e-05 0 0 0.0049 0.0015 0 0 0 0 7.865e-05 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,222,255 +rs550462768 19 50474526 C T - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474526 50474526 Chr19(GRCh37):g.50474526C>T 513+901 513+901 NR_002825.1:n.513+901C>T p.? p.? 3 3 901 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 50474529 IV.59 0.026582 69.8508 4.97706 0.04193 63.6741 rs550462768 yes no Frequency/1000G 2 C 0.000000 0 0.007388 0.021900 0.002000 0.000000 0.005000 0.001400 0.001170 0.010758 0.000121 0.000000 0.000000 0.000000 0.000025 0.000317 0.000230 0.010758 224 212 3 0 0 0 2 6 1 191386 19706 24710 5494 14680 22770 80786 18898 4342 0.000073 0.000710 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 7 7 0 0 0 0 0 0 0 210 198 3 0 0 0 2 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.602 213 PASS . . . . . 0.022 0.0074 0.0014 . 0.005 0.002 . . . . . 0.19259259 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 135.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P319L|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -0.0874 . . . . . . . . 6.116e-04 . . . 0.0159 0.0028 0.0014 0 0 0 0 0 0.0139 0.0020 0.0015 0 0 0 0 0 . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . 0.0074 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550462768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0090 0.0007 0.0001 0 0 0.0004 1.476e-05 0 0 0.0132 0.0039 0 0 0 0 7.665e-05 0.0012 . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs568484514 19 50474530 A C - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50474530 50474530 Chr19(GRCh37):g.50474530A>C 513+905 513+905 NR_002825.1:n.513+905A>C p.? p.? 3 3 905 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Weakly Activated 50474529 IV.59 0.026582 69.8508 4.69986 0.032049 69.8508 rs568484514 yes no Frequency/1000G 2 A 0.002995 C 15 0.002995 0.010600 0.001000 0.000000 0.000000 0.000000 0.001114 0.010208 0.000196 0.000000 0.000000 0.000043 0.000024 0.000308 0.000226 0.010208 219 204 5 0 0 1 2 6 1 196588 19984 25446 5746 14908 23182 83392 19506 4424 0.000081 0.000801 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 8 8 0 0 0 0 0 0 0 203 188 5 0 0 1 2 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -1.005 236 PASS . . . . . 0.011 0.003 . . . 0.001 . . . . . 0.26126125 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E320D|SIGLEC16|Non-coding_transcript|NON_CODING|NR_002825|NR_002825.ex.4) . . . . . . . -0.9049 . . . . . . . . 6.188e-04 . . . 0.0152 0.0027 0.0012 0 0 0 0 0.0002 0.0135 0.0019 0.0013 0 0 0 0 0.0002 . . . . . . ncRNA_exonic upstream ncRNA_exonic . . . 0.0030 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.28 rs568484514 . . . . . . . . . . . . 3.0754 . . I.54 -3.08 . 0.240000 . . . . . . . . . . 0.0086 0.0007 0.0002 0 0 0.0004 1.42e-05 0 4.314e-05 0.0126 0.0037 0 0 0 0 7.72e-05 0.0012 . . . . -1.041 -1.041000 . . 0.240000 . . 1.0E-236 . . . . . . . . . -1.041 . . . . . . 1 1538 10 1/0 0,236,255 +rs551474306 19 50475318 G T - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50475318 50475318 Chr19(GRCh37):g.50475318G>T 513+1693 513+1693 NR_002825.1:n.513+1693G>T p.? p.? 3 3 1693 5' 0 0 0 0 0 0 0 0 0 Cryptic Acceptor Strongly Activated 50475331 3.47417 0.024354 71.1087 4.49405 0.110772 76.7053 rs551474306 yes no Frequency/1000G 2 G 0.000000 0 0.007188 0.000800 0.007200 0.000000 0.017900 0.014400 0.000444 0.000126 0.000058 0.000099 0.000265 0.001691 0.000240 0.001019 0.000468 0.001691 122 3 2 1 5 52 30 26 3 274756 23812 34302 10072 18856 30754 125038 25512 6410 0.000036 0.000000 0.000000 0.000000 0.000000 0.000130 0.000000 0.000235 0.000000 5 0 0 0 0 2 0 3 0 112 3 2 1 5 48 30 20 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -1.812 181 PASS . . . . . 0.0008 0.0072 0.014 . 0.018 0.0072 . SIGLEC16:uc010ybk.1:exon3:c.G243T:p.P81P . . . 0.11570248 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 121.0 . . . . . . . . . . -0.5979 . . . . . . . . 3.711e-04 . . . 0 0.0004 0 0.0004 0.0013 4.89e-05 0.0014 0.0018 0 0.0004 0 0.0003 0.0012 7.496e-05 0.0014 0.0018 . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0072 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . 5 7.69515e-05 64976 1 1.66706e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs551474306 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 2.987e-05 0 0.0002 0.0006 4.52e-05 0 0.0017 0.0003 0.0016 0.0012 0.0034 0.0012 0.0039 0.0017 0.0032 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs555463195 19 50475332 G A - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50475332 50475332 Chr19(GRCh37):g.50475332G>A 513+1707 513+1707 NR_002825.1:n.513+1707G>A p.? p.? 3 3 1707 5' 0 0 0 0 0 0 0 0 0 rs555463195 yes no Frequency/1000G 2 G 0.000000 0 0.007188 0.000800 0.005100 0.000000 0.018900 0.015900 0.000595 0.000503 0.000175 0.000200 0.000000 0.000326 0.000538 0.002324 0.001094 0.002324 163 12 6 2 0 10 67 59 7 273832 23840 34212 10014 18852 30704 124430 25384 6396 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 3 0 0 0 0 0 0 3 0 157 12 6 2 0 10 67 53 7 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.844 193 PASS . . . . . 0.0008 0.0072 0.016 . 0.019 0.0051 . SIGLEC16:uc010ybk.1:exon3:c.G257A:p.R86H . . . 0.14285715 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 119.0 . . . . . . . . . . -1.7120 . . . . . . . . 3.711e-04 . . . 9.936e-05 0.0003 0.0002 0.0002 0.0013 0.0002 0.0014 0.0003 0.0001 0.0003 0.0002 0.0001 0.0012 0.0002 0.0015 0.0003 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0072 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF 1 rs555463195 . . . . . . . . . . . . VI.22 . . I.92 -3.79 . 0.690000 A6NMB1 . . . . . . . . . 6.577e-05 0.0002 5.991e-05 0.0001 0 0.0015 9.092e-05 0 0.0003 0.0013 0.0035 0.0048 0.0034 0 0.0075 0.0039 0.0073 . . . . -0.847 -0.847000 . . 0.690000 . . 1.0E-193 . . . . . . . . . -0.847 . . . . . . 1 1538 10 1/0 0,222,255 +rs567880477 19 50475346 T C - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 substitution intron GRCh37 50475346 50475346 Chr19(GRCh37):g.50475346T>C 513+1721 513+1721 NR_002825.1:n.513+1721T>C p.? p.? 3 3 1721 5' 0 0 0 0 0 0 0 0 0 rs567880477 yes no Frequency/1000G 2 T 0.007588 C 38 0.007588 0.000800 0.004100 0.000000 0.020900 0.017300 0.001034 0.000673 0.000293 0.000203 0.000000 0.000065 0.001161 0.003942 0.001418 0.003942 281 16 10 2 0 2 143 99 9 271750 23770 34074 9858 18846 30604 123138 25114 6346 0.000044 0.000084 0.000000 0.000000 0.000000 0.000000 0.000049 0.000159 0.000000 6 1 0 0 0 0 3 2 0 269 14 10 2 0 2 137 95 9 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.102 -0.117 222 PASS . . . . . 0.0008 0.0076 0.017 . 0.021 0.0041 . SIGLEC16:uc010ybk.1:exon3:c.T271C:p.F91L . . . 0.21818182 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 110.0 . . . . . . . . . . -1.4043 . . . . . . . . 5.843e-04 . . . 0.0001 0.0005 8.711e-05 0.0002 0 0.0009 0 0.0001 0.0001 0.0002 8.975e-05 0.0001 0 0.0002 0 0.0001 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0076 . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 1 rs567880477 . . . . . . . . . . . . IV.36 . . I.64 -0.651 . 1.000000 A6NMB1 . . . . . . . . . 6.608e-05 0.0004 0.0001 0 0 0.0028 0.0003 0.0004 6.535e-05 0.0017 0.0060 0.0072 0.0068 0 0.0113 0.0079 0.0073 . . . . -0.098 -0.098000 . . 1.000000 . . 1.0E-222 . . . . . . . . . -0.098 . . . . . . 1 1538 10 1/0 0,232,255 +. 19 50475364 T TG - SIGLEC16 24851 Sialic acid binding Ig-like lectin 16 (gene/pseudogene) NR_002825.1 1 1609 0 duplication intron GRCh37 50475368 50475369 Chr19(GRCh37):g.50475368dup 513+1743 513+1743 NR_002825.1:n.513+1743dup p.? p.? 3 3 1743 5' 0 0 0 0 0 0 0 0 0 0.006989 0.000800 0.004100 0.000000 0.017900 0.017300 0.002532 0.001309 0.001605 0.001168 0.000000 0.000333 0.002918 0.008037 0.003070 0.008037 674 31 54 11 0 10 349 200 19 266234 23684 33638 9418 18802 30036 119584 24884 6188 0.000083 0.000084 0.000059 0.000000 0.000000 0.000000 0.000117 0.000161 0.000000 11 1 1 0 0 0 7 2 0 652 29 52 11 0 10 335 196 19 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes G 255 Pass . . . . . 0.0008 0.007 0.017 . 0.018 0.0041 . . . . . 0.25 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 132 . . . . . . . . . . . . . . . . . . . 2.069e-03 . . . 0.0005 0.0015 0.0012 0.0002 0.0022 0.0024 0.0015 0.0004 0.0003 0.0009 0.0012 0.0001 0.0023 0.0011 0 0.0004 . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000161643 SIGLEC16 SIGLEC16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs560022475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0016 0.0014 0.0010 0 0.0062 0.0016 0.0017 0.0003 0.0034 0.0098 0.0096 0.0068 0 0.0197 0.0125 0.0105 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,60 +rs137911744 19 50923120 G A - POLD1 9175 DNA polymerase delta 1, catalytic subunit NM_001308632.1 1 3473 3402 NP_001295561.1 substitution downstream GRCh37 50923120 50923120 Chr19(GRCh37):g.50923120G>A *1916 *1916 NM_001308632.1:c.*1916G>A p.? p.? 26 174761 2022 3' 70.1573 X.66 0.114229 9.27913 70.1573 X.66 0.114229 9.27913 0 rs137911744 yes no Frequency/1000G 2 G 0.000000 0 0.005391 0.000800 0.003100 0.001000 0.011900 0.014400 0.009286 0.002077 0.004661 0.004559 0.000235 0.008622 0.009405 0.021458 0.009772 0.021458 1101 25 53 28 1 127 468 369 30 118570 12036 11372 6142 4264 14730 49760 17196 3070 0.000152 0.000000 0.000000 0.000000 0.000000 0.000136 0.000201 0.000233 0.000651 9 0 0 0 0 1 5 2 1 1083 25 53 28 1 125 458 365 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3145 1382 4527 37 2 39 0.0116279 0.00144509 0.00854139 0.0116279 0.00144509 0.00854139 29 transition G A G>A 0.016 -1.732 255 PASS . 0.01 0.02 . 0.01 0.0008 0.0054 0.014 0.001 0.012 0.0031 . . . . . 0.7941176 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0014 0.0085 0.012 0.0014 0.0085 0.012 . 0.9260 . . . . . . . . 4.123e-03 . . . 0.0018 0.0085 0.0045 0.0015 0.0435 0.0098 0.0071 0.0114 0.0009 0.0095 0.0062 0.0019 0.0455 0.0126 0 0.0114 . . . . . . intronic intronic intronic . . . 0.0054 . . . 0.45 0.64 182 . SPIB SPIB . . . . . . 570 0.00877247 64976 543 0.00905211 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HOM . rs137911744 . . . . . . . . . . . . . . . . . . . . . . . 0.008541 . . . . . 0.0015 0.0096 0.0046 0.0045 0.0004 0.0212 0.0094 0.0105 0.0086 0.0023 0.0083 0.0060 0.0066 0 0.0226 0.0095 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs137911744 rs137911744 1 1538 10 1/0 0,255,255 +rs137911744 19 50923120 G A - SPIB 11242 Spi-B transcription factor (Spi-1/PU.1 related) NM_003121.4 1 3531 789 NP_003112.2 Q01892 substitution intron GRCh37 50923120 50923120 Chr19(GRCh37):g.50923120G>A 24-83 24-83 NM_003121.4:c.24-83G>A p.? p.? 2 1 606802 -83 3' 87.337 XI.34 0.981381 XI.31 87.337 XI.34 0.981381 XI.31 0 rs137911744 yes no Frequency/1000G 2 G 0.000000 0 0.005391 0.000800 0.003100 0.001000 0.011900 0.014400 0.009286 0.002077 0.004661 0.004559 0.000235 0.008622 0.009405 0.021458 0.009772 0.021458 1101 25 53 28 1 127 468 369 30 118570 12036 11372 6142 4264 14730 49760 17196 3070 0.000152 0.000000 0.000000 0.000000 0.000000 0.000136 0.000201 0.000233 0.000651 9 0 0 0 0 1 5 2 1 1083 25 53 28 1 125 458 365 28 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3145 1382 4527 37 2 39 0.0116279 0.00144509 0.00854139 0.0116279 0.00144509 0.00854139 29 transition G A G>A 0.016 -1.732 255 PASS . 0.01 0.02 . 0.01 0.0008 0.0054 0.014 0.001 0.012 0.0031 . . . . . 0.7941176 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . . 0.0014 0.0085 0.012 0.0014 0.0085 0.012 . 0.9260 . . . . . . . . 4.123e-03 . . . 0.0018 0.0085 0.0045 0.0015 0.0435 0.0098 0.0071 0.0114 0.0009 0.0095 0.0062 0.0019 0.0455 0.0126 0 0.0114 . . . . . . intronic intronic intronic . . . 0.0054 . . . 0.45 0.64 182 . SPIB SPIB . . . . . . 570 0.00877247 64976 543 0.00905211 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 4 . . . . . . . . . . HOM . rs137911744 . . . . . . . . . . . . . . . . . . . . . . . 0.008541 . . . . . 0.0015 0.0096 0.0046 0.0045 0.0004 0.0212 0.0094 0.0105 0.0086 0.0023 0.0083 0.0060 0.0066 0 0.0226 0.0095 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs137911744 rs137911744 1 1538 10 1/0 0,255,255 +rs188761732 19 51016342 C T - ASPDH 33856 Aspartate dehydrogenase domain containing NM_001114598.1 -1 1044 852 NP_001108070.1 A6ND91 substitution intron GRCh37 51016342 51016342 Chr19(GRCh37):g.51016342C>T 198-74 198-74 NM_001114598.1:c.198-74G>A p.? p.? 3 2 -74 3' 86.7182 XI.63 0.988071 XI.54 86.7182 XI.63 0.988071 11.0473 0 rs188761732 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.005593 0.002062 0.002387 0.000000 0.000000 0.000000 0.007018 0.010303 0.012220 0.010303 173 18 2 0 0 0 105 36 12 30930 8730 838 302 1622 0 14962 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 173 18 2 0 0 0 105 36 12 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.770 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . . . . . 0.44285715 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.6450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.27 0.31 182 ENSG00000204653 ASPDH ASPDH . . . . . . 339 0.00521731 64976 334 0.00556797 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs188761732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0056 0.0024 0 0 0.0103 0.0070 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs188761732 rs188761732 1 1538 10 1/0 0,255,255 +rs188761732 19 51016342 C T - JOSD2 28853 Josephin domain containing 2 NM_001270639.1 -1 999 567 NP_001257568.1 Q8TAC2 substitution upstream GRCh37 51016342 51016342 Chr19(GRCh37):g.51016342C>T -1986 -1986 NM_001270639.1:c.-1986G>A p.? p.? 1 615324 -1969 5' 78.6034 5.50481 0.383607 6.09315 78.6034 5.50481 0.383607 6.09315 0 rs188761732 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.004000 0.001400 0.005593 0.002062 0.002387 0.000000 0.000000 0.000000 0.007018 0.010303 0.012220 0.010303 173 18 2 0 0 0 105 36 12 30930 8730 838 302 1622 0 14962 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 173 18 2 0 0 0 105 36 12 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.770 255 PASS . 0.0018 0.0028 . 0.004 . 0.001 0.0014 . 0.004 . . . . . . 0.44285715 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.6450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.27 0.31 182 ENSG00000204653 ASPDH ASPDH . . . . . . 339 0.00521731 64976 334 0.00556797 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs188761732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0056 0.0024 0 0 0.0103 0.0070 0.0122 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.004 . . rs188761732 rs188761732 1 1538 10 1/0 0,255,255 +rs112584540 19 51919231 A G - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution synonymous exon GRCh37 51919231 51919231 Chr19(GRCh37):g.51919231A>G 945 945 NM_033130.4:c.945T>C p.Ala315= p.Ala315Ala 5 606091 -80 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 XI.89 0 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs112584540 yes no Frequency/1000G 2 A 0.000000 0 0.003794 0.001500 0.004100 0.000000 0.008900 0.005800 0.004729 0.002420 0.003326 0.001585 0.000265 0.002515 0.006489 0.006960 0.006414 0.006960 1298 58 114 16 5 77 810 177 41 274456 23966 34276 10094 18866 30612 124820 25430 6392 0.000066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000079 0.000000 9 0 0 0 0 0 8 1 0 1280 58 114 16 5 77 794 175 41 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -3.023 A Ala GCT 0.263 A Ala GCC 0.403 315 227 PASS . . . . . 0.0015 0.0038 0.0058 . 0.0089 0.0041 . . . . . 0.234375 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.4175 . . . . . . . . 8.232e-03 . . . 0.0019 0.0073 0.0042 0 0.0095 0.0111 0.0113 0.0050 0.0019 0.0077 0.0042 0 0.0114 0.0108 0.0073 0.0050 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0038 . . . 0.23 0.3 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . . . . 224 0.00344743 64976 222 0.00370086 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112584540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0041 0.0031 0.0014 0.0002 0.0057 0.0058 0.0055 0.0025 0.0041 0.0094 0.0119 0.0066 0.0006 0.0147 0.0120 0.0114 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs112584540 rs112584540 1 1538 10 1/0 0,227,255 +rs201089294 19 51919235 T C - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution missense exon GRCh37 51919235 51919235 Chr19(GRCh37):g.51919235T>C 941 941 NM_033130.4:c.941A>G p.Lys314Arg p.Lys314Arg 5 606091 -84 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 11.0836 0 Cryptic Donor Strongly Activated 51919240 0.00865 66.4519 5.50481 0.722833 78.6034 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs201089294 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.001500 0.004100 0.000000 0.008900 0.005800 0.004672 0.002423 0.003177 0.001684 0.000265 0.002416 0.006476 0.006611 0.006723 0.006611 1282 58 109 17 5 74 808 168 43 274408 23936 34304 10096 18866 30624 124772 25414 6396 0.000066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000079 0.000000 9 0 0 0 0 0 8 1 0 1264 58 109 17 5 74 792 166 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM3736202|COSM3736203 Skin|Skin 0.000812|0.000812 1232|1232 transition A G A>G 0.000 -0.279 K Lys AAG 0.575 R Arg AGG 0.207 314 12 9 Horse 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 241.59 5.VII Tolerated 0.23 III.15 230 PASS . . . . . 0.0015 0.0038 0.0058 . 0.0089 0.0041 . . . . . 0.24193548 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.143 . . 124.0 . . . . . . . . . . -0.9408 -1.063 -0.941 c . . . . . 8.137e-03 . . . 0.0019 0.0071 0.0038 0 0.0092 0.0110 0.0113 0.0048 0.0019 0.0076 0.0038 0 0.0112 0.0108 0.0073 0.0048 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.682 . . exonic exonic exonic . . 0.079 0.0038 . . . 0.27 0.25 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . 0.826 0.246 . 222 0.00341665 64976 221 0.00368419 59986 Likely_benign . 0 . 0.033 . . . . . . . . . 37 . 0.572 . . 0.389 . . . 0.162 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.360 . . 0.448 . . . . . . 1 0.280 . . . . . 0.012 . 0.153 . HET 0.28 rs201089294 . . . . . . . . . . . . 0.8962 . . IV.37 -1.6 . 0.320000 . . . . . . 0.034 . . . 0.0014 0.0041 0.0030 0.0015 0.0002 0.0054 0.0057 0.0059 0.0024 0.0041 0.0093 0.0119 0.0066 0.0006 0.0141 0.0119 0.0114 . . 0.372 . -0.440 -0.440000 . . 0.320000 . . 1.0E-230 0.000 0.063 . 0.100 0.011 . 0.122 . 0.207 -0.440 0.079 . . . rs201089294 rs201089294 1 1538 10 1/0 0,229,255 +rs199590261 19 51919237 C T - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution synonymous exon GRCh37 51919237 51919237 Chr19(GRCh37):g.51919237C>T 939 939 NM_033130.4:c.939G>A p.Val313= p.Val313Val 5 606091 -86 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 11.0836 0 Cryptic Donor Strongly Activated 51919240 0.00865 66.4519 3.52811 0.247691 70.8142 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs199590261 yes no Frequency/1000G 2 C 0.000000 0 0.003794 0.001500 0.004100 0.000000 0.008900 0.005800 0.004927 0.002339 0.003352 0.002177 0.000265 0.002547 0.006899 0.006687 0.007027 0.006899 1353 56 115 22 5 78 862 170 45 274620 23944 34310 10106 18864 30630 124938 25424 6404 0.000066 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000079 0.000000 9 0 0 0 0 0 8 1 0 1335 56 115 22 5 78 846 168 45 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.016 0.609 V Val GTG 0.468 V Val GTA 0.114 313 204 PASS . . . . . 0.0015 0.0038 0.0058 . 0.0089 0.0041 . . . . . 0.17037037 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 0.4476 . . . . . . . . 8.153e-03 . . . 0.0019 0.0072 0.0038 0 0.0095 0.0110 0.0114 0.0048 0.0019 0.0076 0.0038 0 0.0114 0.0107 0.0073 0.0048 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0038 . . . 0.31 0.24 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . . . . 222 0.00341665 64976 221 0.00368419 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199590261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.15 0.0013 0.0044 0.0031 0.0020 0.0002 0.0055 0.0062 0.0063 0.0025 0.0041 0.0093 0.0119 0.0066 0.0006 0.0141 0.0119 0.0113 . . . . . . . . . . . 1.0E-204 . . . . . . . . . . . . . . rs199590261 rs199590261 1 1538 10 1/0 0,219,255 +rs199660336 19 51919243 G A - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution synonymous exon GRCh37 51919243 51919243 Chr19(GRCh37):g.51919243G>A 933 933 NM_033130.4:c.933C>T p.Pro311= p.Pro311Pro 5 606091 -92 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 11.0836 0 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs199660336 yes no Frequency 1 G 0.000000 0 0.006292 0.002769 0.003819 0.002768 0.000265 0.003521 0.008822 0.009129 0.008419 0.009129 1730 66 131 28 5 108 1105 233 54 274966 23834 34300 10114 18856 30672 125252 25524 6414 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000078 0.000000 9 0 0 0 0 0 8 1 0 1712 66 131 28 5 108 1089 231 54 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.031 -0.037 P Pro CCC 0.328 P Pro CCT 0.283 311 208 PASS . . . . . . . . . . . . . . . . 0.18032786 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 122.0 . . . . . . . . . . 0.2374 . . . . . . . . 8.650e-03 . . . 0.0071 0.0078 0.0040 0.0002 0.0095 0.0111 0.0114 0.0048 0.0072 0.0081 0.0040 0.0001 0.0114 0.0108 0.0073 0.0048 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.26 0.27 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . . . . 234 0.00360133 64976 231 0.0038509 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199660336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0059 0.0036 0.0026 0.0002 0.0083 0.0084 0.0079 0.0035 0.0041 0.0093 0.0119 0.0066 0.0006 0.0144 0.0120 0.0113 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . . . . rs199660336 rs199660336 1 1538 10 1/0 0,225,255 +rs200798488 19 51919244 G C - SIGLEC10 15620 Sialic acid binding Ig like lectin 10 NM_033130.4 -1 3394 2094 NP_149121.2 Q96LC7 substitution missense exon GRCh37 51919244 51919244 Chr19(GRCh37):g.51919244G>C 932 932 NM_033130.4:c.932C>G p.Pro311Arg p.Pro311Arg 5 606091 -93 5' 73.7552 6.95697 0.853278 11.0836 73.7552 6.95697 0.853278 11.0836 0 Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin subtype Immunoglobulin subtype 2 rs200798488 yes no Frequency 1 G 0.000000 0 0.006492 0.002631 0.003933 0.003161 0.000265 0.003586 0.009103 0.009588 0.008720 0.009588 1787 63 135 32 5 110 1141 245 56 275250 23948 34322 10122 18862 30678 125344 25552 6422 0.000065 0.000000 0.000000 0.000000 0.000000 0.000000 0.000128 0.000078 0.000000 9 0 0 0 0 0 8 1 0 1769 63 135 32 5 110 1125 243 56 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM2756156|COSM2756157 Skin|Skin 0.000812|0.000812 1232|1232 transversion C G C>G 0.339 0.286 P Pro CCC 0.328 R Arg CGC 0.190 311 12 8 Horse -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Tolerated 0.09 III.39 227 PASS . . . . . . . . . . . . . . . . 0.23255815 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.365 . @ . . . . . 1 0.223 . . 129.0 . . . . . . . . . . -0.5292 -0.622 -0.529 c . . . . . 8.161e-03 . . . 0.0019 0.0072 0.0038 0 0.0095 0.0111 0.0114 0.0048 0.0019 0.0076 0.0038 0 0.0114 0.0108 0.0073 0.0048 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.654 . . exonic exonic exonic . . 0.190 @ . . . 0.27 0.25 182 ENSG00000142512 SIGLEC10 SIGLEC10 . . . 0.798 0.241 . 233 0.00358594 64976 231 0.0038509 59986 Likely_benign . 0 . 0.327 . . . . . . . . . 37 . 0.537 . . 0.442 . . . 0.539 0.347 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.961 . . 0 0 0 0 0 0 . 0.417 . . 0.484 . . . . . . 1 0.359 . . . . . 0.078 . 0.374 . HET 0.17 rs200798488 . . . . . . . . . . . . III.72 . . IV.37 1.I . 0.130000 . . . . . . 0.195 . . . 0.0018 0.0061 0.0037 0.0031 0.0002 0.0088 0.0087 0.0083 0.0036 0.0041 0.0093 0.0120 0.0066 0.0006 0.0144 0.0119 0.0113 . . 0.372 . 0.130 0.130000 . . 0.130000 . . 1.0000000000000001E-227 0.902 0.312 . 0.175 0.257 . 0.319 . 0.168 0.130 -0.033 . . . rs200798488 rs200798488 1 1538 10 1/0 0,227,255 +. 19 53078980 A G - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution intron GRCh37 53078980 53078980 Chr19(GRCh37):g.53078980A>G 214-168 214-168 NM_001172655.1:c.214-168A>G p.? p.? 4 3 -168 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.977638 11.1108 0 transition A G A>G 0.000 -1.328 164 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . . . . . . . -0.6932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-164 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs55676142 19 53078992 C G - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution intron GRCh37 53078992 53078992 Chr19(GRCh37):g.53078992C>G 214-156 214-156 NM_001172655.1:c.214-156C>G p.? p.? 4 3 -156 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.977638 11.1108 0 rs55676142 no no 0 C 0.000000 0 transversion C G C>G 0.000 -0.360 212 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . -0.5207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.3 0.28 182 ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs55676142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs55676142 rs55676142 1 1538 10 1/0 0,255,255 +. 19 53078993 A G - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution intron GRCh37 53078993 53078993 Chr19(GRCh37):g.53078993A>G 214-155 214-155 NM_001172655.1:c.214-155A>G p.? p.? 4 3 -155 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.977638 11.1108 0 transition A G A>G 0.000 0.528 217 PASS . . . . . . . . . . . . . . . . 0.20754717 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . . . . . . . . . -0.2860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.24 182 ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . rs78741617 rs78741617 1 1538 10 1/0 0,255,255 +rs762020168 19 53079141 C A - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution intron GRCh37 53079141 53079141 Chr19(GRCh37):g.53079141C>A 214-7 214-7 NM_001172655.1:c.214-7C>A p.? p.? 4 3 -7 3' 97.8009 X.42 0.977638 11.1108 97.599 9.40499 0.937253 9.37058 -0.0597593 rs762020168 yes no Frequency 1 C 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000089 0.000000 0.000000 0.000000 0.000089 2 0 0 0 0 2 0 0 0 187590 13016 23702 6012 14976 22454 90368 13054 4008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 RF 49 Exomes transversion C A C>A 0.102 -1.005 197 PASS . . . . . . . . . . . . . . . . 0.15254237 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.4825 . . . . . . . . 2.424e-05 . . . 0 3.864e-05 0 0 0 4.309e-05 0 0.0001 0 3.198e-05 0 0 0 3.096e-05 0 0.0001 . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.26 0.21 182 ENSG00000268886 ZNF701 ZNF701 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs762020168 . . . . . . . . . . . . . . . . . . . . 0.0001 0.01 . . . . . . . 0 1.066e-05 0 0 0 0 0 0 8.907e-05 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . rs28706062 rs28706062 rs28706062 rs28706062 1 1538 10 1/0 0,253,255 +. 19 53079153 A G - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution synonymous exon GRCh37 53079153 53079153 Chr19(GRCh37):g.53079153A>G 219 219 NM_001172655.1:c.219A>G p.Leu73= p.Leu73Leu 4 6 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.977995 XI.93 0.000121722 Cryptic Acceptor Weakly Activated 53079165 3.53509 0.015381 79.4295 3.87052 0.021706 79.46 transition A G A>G 0.000 -0.763 L Leu CTA 0.070 L Leu CTG 0.404 73 181 PASS . . . . . . . . . . . . . . . . 0.11666667 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.3696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.26 182 ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . rs71361285 . . 1 1538 10 1/0 0,250,255 +rs765462669 19 53079154 C T - ZNF701 25597 Zinc finger protein 701 NM_001172655.1 1 5538 1596 NP_001166126.1 Q9NV72 substitution synonymous exon GRCh37 53079154 53079154 Chr19(GRCh37):g.53079154C>T 220 220 NM_001172655.1:c.220C>T p.Leu74= p.Leu74Leu 4 7 3' 97.8009 X.42 0.977638 11.1108 97.8009 X.42 0.9758 X.59 -0.00062668 Cryptic Acceptor Strongly Activated 53079165 3.53509 0.015381 79.4295 4.36742 0.065239 83.5314 Krueppel-associated box rs765462669 yes no Frequency 1 T 0.000000 0 transition C T C>T 0.008 -0.763 L Leu CTG 0.404 L Leu TTG 0.127 74 196 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 60.0 . . . . . . . . . . -0.6069 . . . . . . . . 3.208e-05 . . . 0 4.735e-05 0 0 0 7.025e-05 0 9.454e-05 0 3.912e-05 0 0 0 5.068e-05 0 9.526e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.24 182 ENSG00000167562 ZNF701 ZNF701 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs765462669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs28462670 rs28462670 rs28462670 rs28462670 1 1538 10 1/0 0,252,255 +rs62115350 19 53879043 T C - ZNF525 29423 Zinc finger protein 525 NM_001348156.1 1 6145 1440 NP_001335085.1 substitution synonymous exon GRCh37 53879043 53879043 Chr19(GRCh37):g.53879043T>C 36 36 NM_001348156.1:c.36T>C p.Asp12= p.Asp12Asp 3 21 3' 97.599 9.40499 0.92339 8.23157 97.599 9.40499 0.92339 8.58576 0 rs62115350 yes no Frequency 1 0.000000 0 0.000740 0.005655 0.000236 0.000306 0.000000 0.000066 0.000343 0.000677 0.000160 0.005655 198 126 8 3 0 2 42 16 1 267398 22282 33846 9798 18770 30360 122458 23628 6256 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 198 126 8 3 0 2 42 16 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.992 0.448 D Asp GAT 0.461 D Asp GAC 0.539 12 235 PASS . . . . . . . . . . . . . . . . 0.25757575 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 132.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C41R|ZNF525|Non-coding_transcript|NON_CODING|NR_003699|NR_003699.ex.3) . . . . . . . 0.3130 . . . . . . . . 5.176e-03 . . . 0.0244 0.0047 0.0025 0.0004 0.0019 0.0034 0.0072 0.0005 0.0242 0.0033 0.0024 0.0001 0.0019 0.0019 0.0029 0.0004 synonymous_SNV . . . . . exonic UTR5 ncRNA_exonic . . . @ . . . 0.56 0.39 182 ENSG00000203326 . ZNF525 . uc010eqn.3:c.-73T>C\x3buc010ydx.2:c.-22226T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62115350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0003 0.0002 0.0003 0 0.0007 0.0002 0.0002 6.588e-05 0.0127 0.0042 0.0024 0 0 0.0006 0.0012 0 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs62115350 rs62115350 rs62115350 rs62115350 1 1538 10 1/0 0,228,255 +rs376997783 19 54672428 G A - TMC4 22998 Transmembrane channel-like 4 NM_001145303.2 -1 2481 2139 NP_001138775.2 Q7Z404 substitution intron GRCh37 54672428 54672428 Chr19(GRCh37):g.54672428G>A 461-22 461-22 NM_001145303.2:c.461-22C>T p.? p.? 4 3 617181 -22 3' 83.7812 XI.79 0.817762 X.97 83.7812 XI.79 0.817762 X.65 0 rs376997783 yes no Frequency 1 G 0.000000 0 0.001771 0.000435 0.000593 0.001421 0.000000 0.000701 0.003288 0.000861 0.002905 0.003288 187 6 7 4 0 6 143 13 8 105598 13796 11810 2814 7268 8562 43490 15104 2754 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000046 0.000000 0.000000 1 0 0 0 0 0 1 0 0 185 6 7 4 0 6 141 13 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8373 4259 12632 9 1 10 0.00107373 0.000234742 0.000791014 0.00107373 0.000234742 0.000791014 10 transition C T C>T 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.6666667 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . . 0.0002 0.0008 0.0011 0.0002 0.0008 0.0011 . 0.8599 . . . . . . . . 8.790e-04 . . . 0.0005 0.0020 0 0 0 0.0031 0 0.0020 0.0007 0.0030 0 0 0 0.0058 0 0.0020 . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.4 182 ENSG00000167608 TMC4 TMC4 . . . . . . 81 0.00124661 64976 81 0.00135032 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs376997783 . . . . . . . . . . . . . . . . . . . . . . . 0.000791 . . . . . 0 0.0015 0.0005 0.0016 0 0.0009 0.0028 0.0028 0.0007 0.0007 0.0025 0.0012 0 0 0.0009 0.0043 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0011 . . rs376997783 rs376997783 1 1538 10 1/0 0,255,255 +. 19 54723855 C CCCT - LILRB3 6607 Leukocyte immunoglobulin like receptor B3 NM_001320960.1 -1 2873 1947 NP_001307889.1 insertion intron GRCh37 54723855 54723856 Chr19(GRCh37):g.54723855_54723856insCCT 1310-68 1310-67 NM_001320960.1:c.1310-68_1310-67insAGG p.? p.? 8 7 604820 -67 3' 81.0824 7.36852 0.665409 7.34417 81.0824 7.36852 0.665409 7.57848 0 rs780744307 no no 0 0.000000 0 0.000012 0.000000 0.000063 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000063 1 0 1 0 0 0 0 0 0 85844 5026 15786 4528 7412 14756 27194 8948 2194 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 58 Exomes AGG 255 Pass . . . . . . . . . . . . . . . . 0.91964287 . . . 103 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . . LILRB3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.165e-05 6.335e-05 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,3,4 +rs74407620 19 54723856 T A - LILRB3 6607 Leukocyte immunoglobulin like receptor B3 NM_001320960.1 -1 2873 1947 NP_001307889.1 substitution intron GRCh37 54723856 54723856 Chr19(GRCh37):g.54723856T>A 1310-68 1310-68 NM_001320960.1:c.1310-68A>T p.? p.? 8 7 604820 -68 3' 81.0824 7.36852 0.665409 7.34417 81.0824 7.36852 0.665409 7.47939 0 rs74407620 yes no Frequency/1000G 2 0.000000 0 0.000998 0.001500 0.002000 0.000000 0.001000 0.000000 0.000078 0.000168 0.000197 0.000000 0.000000 0.000000 0.000029 0.000000 0.000737 0.000197 8 2 3 0 0 0 1 0 2 102762 11926 15228 4500 8418 14080 34940 10958 2712 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 2 3 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion A T A>T 0.000 -1.005 255 PASS 0.04 0.03 0.02 0.01 0.04 0.0015 0.001 . . 0.001 0.002 . . . . . 0.8288288 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . -0.7934 . . . . . . . . 1.360e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0010 . . . 0.24 0.11 182 . . LILRB3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 8.742e-05 0.0002 0 0 0 4.006e-05 0.0010 0 0.0001 4.407e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.04 . . rs74407620 rs74407620 1 1538 10 1/0 0,255,251 +. 19 54743637 GA G - LILRA6 15495 Leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 NM_024318.3 -1 1458 1446 NP_077294.3 deletion intron GRCh37 54743638 54743638 Chr19(GRCh37):g.54743638del 1309+139 1309+139 NM_024318.3:c.1309+139del p.? p.? 7 7 139 5' 87.1266 10.0978 0.968565 XII.56 87.1266 10.0978 0.968565 XII.56 0 rs773046389 yes no Frequency 1 0.000000 0 0.003121 0.006152 0.000728 0.001315 0.001526 0.001540 0.004667 0.001834 0.002716 0.006152 551 93 18 11 18 35 329 34 13 176544 15118 24714 8368 11792 22728 70502 18536 4786 0.000102 0.000794 0.000000 0.000000 0.000000 0.000088 0.000057 0.000000 0.000000 9 6 0 0 0 1 2 0 0 533 81 18 11 18 33 325 34 13 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . LILRA6:uc010yep.1:exon7:c.1448delT:p.F483fs . . . 0.25062034 . . . 101 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 403 . . . . . . . . . . . . . . . . . . . 5.508e-04 . . . 0.0028 0.0021 0 0 0 0.0039 0.0056 0.0005 0.0023 0.0005 0 0 0 0.0003 0 0.0005 . frameshift_deletion . . . . intronic exonic intronic . . . . . . . . . . . LILRA6 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs773046389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0051 0.0020 0.0006 0.0009 0.0015 0.0011 0.0030 0.0016 0.0015 0.0071 0.0084 0.0048 0.0136 0.0019 0.0052 0.0108 0.0072 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,60 +rs199773766 19 54780300 C T - LILRA6 15495 Leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 NM_024318.3 -1 1458 1446 NP_077294.3 substitution intron GRCh37 54780300 54780300 Chr19(GRCh37):g.54780300C>T 70+3819 70+3819 NM_024318.3:c.70+3819G>A p.? p.? 2 2 3819 5' 95.6376 X.36 0.991398 X.55 95.6376 X.36 0.991398 X.55 0 rs199773766 yes no Frequency/1000G 2 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 2 0 0 0 0 0 2 0 0 229236 14180 31708 8842 16578 29282 102440 21138 5068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 55 Exomes transition G A G>A 0.008 0.205 174 PASS 0.04 0.02 . 0.0017 0.03 . . . . . . . . . . . 0.10204082 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 98.0 . . . . . . . . . . -0.0495 . . . . . . . . 7.957e-06 . . . 0 1.571e-05 0 0 0 3.289e-05 0 0 0 1.388e-05 0 0 0 2.638e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.25 182 ENSG00000131042 LILRB2 LILRB2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.725e-06 0 0 0 0 1.952e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . 0.04 rs61730065 rs61730065 rs61730065 rs199773766 1 1538 10 1/0 0,227,255 +rs199773766 19 54780300 C T - LILRB2 6606 Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 NM_005874.4 -1 2925 1797 NP_005865.3 Q8N423 substitution synonymous exon GRCh37 54780300 54780300 Chr19(GRCh37):g.54780300C>T 1494 1494 NM_005874.4:c.1494G>A p.Lys498= p.Lys498Lys 11 604815 11 3' 82.8102 X.97 0.935081 8.50831 82.8102 X.97 0.945885 8.78478 0.00385136 rs199773766 yes no Frequency/1000G 2 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000020 0.000000 0.000000 0.000020 2 0 0 0 0 0 2 0 0 229236 14180 31708 8842 16578 29282 102440 21138 5068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 55 Exomes transition G A G>A 0.008 0.205 K Lys AAG 0.575 K Lys AAA 0.425 498 174 PASS 0.04 0.02 . 0.0017 0.03 . . . . . . . . . . . 0.10204082 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 98.0 . . . . . . . . . . -0.0495 . . . . . . . . 7.957e-06 . . . 0 1.571e-05 0 0 0 3.289e-05 0 0 0 1.388e-05 0 0 0 2.638e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.25 182 ENSG00000131042 LILRB2 LILRB2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.725e-06 0 0 0 0 1.952e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . 0.04 rs61730065 rs61730065 rs61730065 rs199773766 1 1538 10 1/0 0,227,255 +rs139961541 19 54780769 G C - LILRA6 15495 Leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 NM_024318.3 -1 1458 1446 NP_077294.3 substitution intron GRCh37 54780769 54780769 Chr19(GRCh37):g.54780769G>C 70+3350 70+3350 NM_024318.3:c.70+3350C>G p.? p.? 2 2 3350 5' 95.6376 X.36 0.991398 X.55 95.6376 X.36 0.991398 X.55 0 rs139961541 yes no Frequency 1 0.000000 0 0.002662 0.004171 0.001283 0.009095 0.000000 0.002704 0.002622 0.002882 0.002579 0.009095 705 94 43 86 0 81 314 71 16 264838 22538 33524 9456 18762 29956 119760 24638 6204 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 705 94 43 86 0 81 314 71 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM713745|COSM713745 Thyroid|Skin 0.002677|0.000812 747|1232 transversion C G C>G 0.028 1.174 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.115 . . 105.0 . . . . . . . . . . -0.8911 -0.982 -0.891 c . . . . . 8.619e-03 . . . 0.0336 0.0094 0.0008 0.0004 0.0016 0.0077 0.0072 0.0099 0.0355 0.0077 0.0008 0.0007 0.0009 0.0058 0.0074 0.0100 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.219 @ . . . 0.15 0.25 182 ENSG00000131042 LILRB2 LILRB2 . . . 1.000 0.451 . . . . . . . Likely_benign . 0 . 0.005 . . . . . . . . . 37 . 0.006 . . 0.477 . . . 0.712 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.375 . . 0 0 0 0 0 0 . 0.215 . . 0.193 . . . . . . 1 0.506 . . . . . 0.216 . 0.539 . LowAF 0.01 . . . . . . . . . . . . . 6.574 0.03023 . 1.V 1.V . 0.220000 . . . . . . 0.088 . . . 0.0064 0.0030 0.0013 0.0094 0 0.0033 0.0030 0.0031 0.0027 0.0005 0.0003 0 0 0 0.0003 0.0002 0 . . 0.455 . 1.185 1.185000 . . 0.220000 . . 1.0E-180 0.007 0.175 . 0.074 0.079 . 0.219 . 0.326 1.185 0.676 . rs45511398 rs45511398 rs45511398 rs139961541 1 1538 10 1/0 0,225,255 +rs139961541 19 54780769 G C - LILRB2 6606 Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 NM_005874.4 -1 2925 1797 NP_005865.3 Q8N423 substitution missense exon GRCh37 54780769 54780769 Chr19(GRCh37):g.54780769G>C 1375 1375 NM_005874.4:c.1375C>G p.Leu459Val p.Leu459Val 10 604815 15 3' 75.2315 3.69835 0.184038 0 75.2315 3.69835 0.131015 0 -0.0960363 rs139961541 yes no Frequency 1 0.000000 0 0.002662 0.004171 0.001283 0.009095 0.000000 0.002704 0.002622 0.002882 0.002579 0.009095 705 94 43 86 0 81 314 71 16 264838 22538 33524 9456 18762 29956 119760 24638 6204 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 705 94 43 86 0 81 314 71 16 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM713745|COSM713745 Thyroid|Skin 0.002677|0.000812 747|1232 transversion C G C>G 0.028 1.174 L Leu CTG 0.404 V Val GTG 0.468 459 6 2 Chimp 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 353.86 0.00 Deleterious 0 IV.32 180 PASS . . . . . . . . . . . . . . . . 0.114285715 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.115 . . 105.0 . . . . . . . . . . -0.8911 -0.982 -0.891 c . . . . . 8.619e-03 . . . 0.0336 0.0094 0.0008 0.0004 0.0016 0.0077 0.0072 0.0099 0.0355 0.0077 0.0008 0.0007 0.0009 0.0058 0.0074 0.0100 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.219 @ . . . 0.15 0.25 182 ENSG00000131042 LILRB2 LILRB2 . . . 1.000 0.451 . . . . . . . Likely_benign . 0 . 0.005 . . . . . . . . . 37 . 0.006 . . 0.477 . . . 0.712 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.375 . . 0 0 0 0 0 0 . 0.215 . . 0.193 . . . . . . 1 0.506 . . . . . 0.216 . 0.539 . LowAF 0.01 . . . . . . . . . . . . . 6.574 0.03023 . 1.V 1.V . 0.220000 . . . . . . 0.088 . . . 0.0064 0.0030 0.0013 0.0094 0 0.0033 0.0030 0.0031 0.0027 0.0005 0.0003 0 0 0 0.0003 0.0002 0 . . 0.455 . 1.185 1.185000 . . 0.220000 . . 1.0E-180 0.007 0.175 . 0.074 0.079 . 0.219 . 0.326 1.185 0.676 . rs45511398 rs45511398 rs45511398 rs139961541 1 1538 10 1/0 0,225,255 +rs181428406 19 54941923 G A - TTYH1 13476 Tweety homolog 1 (Drosophila) NM_001005367.2 1 1858 1383 NP_001005367.1 substitution intron GRCh37 54941923 54941923 Chr19(GRCh37):g.54941923G>A 940-68 940-68 NM_001005367.2:c.940-68G>A p.? p.? 9 8 605784 -68 3' 92.1993 XI.77 0.987189 15.2218 92.1993 XI.77 0.987189 15.0161 0 rs181428406 yes no Frequency/1000G 2 G 0.000000 0 0.004393 0.000000 0.003100 0.001000 0.012900 0.007200 0.006022 0.001839 0.003580 0.016556 0.000617 0.000000 0.007889 0.008023 0.015369 0.016556 186 16 3 5 1 0 118 28 15 30888 8702 838 302 1622 0 14958 3490 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 186 16 3 5 1 0 118 28 15 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 -0.682 255 PASS . 0.0037 . . 0.01 . 0.0044 0.0072 0.001 0.013 0.0031 . . . . . 0.62857145 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . 0.5524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . 0.0044 . . . 0.43 0.4 182 ENSG00000227407 TTYH1 TTYH1 . . . . . . 336 0.00517114 64976 314 0.00523455 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0060 0.0036 0.0166 0.0006 0.0080 0.0079 0.0154 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs181428406 rs181428406 1 1538 10 1/0 0,255,255 +rs142100665 19 55179184 T C - LILRB4 6608 Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 NM_001278429.3 1 3869 1437 NP_001265358.2 substitution synonymous exon GRCh37 55179184 55179184 Chr19(GRCh37):g.55179184T>C 1230 1230 NM_001278429.3:c.1230T>C p.Ser410= p.Ser410Ser 10 604821 -61 5' 92.583 10.0326 0.996506 12.0181 92.583 10.0326 0.996506 XII.92 0 rs142100665 yes no Frequency/1000G 2 T 0.000000 0 0.009385 0.025000 0.007200 0.000000 0.005000 0.002900 0.001014 0.003353 0.002669 0.000792 0.000000 0.000557 0.000457 0.000997 0.000627 0.003353 274 77 87 8 0 17 57 24 4 270288 22962 32598 10104 18840 30514 124804 24084 6382 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 274 77 87 8 0 17 57 24 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287111 Pancreas 0.000569 1758 transition T C T>C 0.000 -4.960 S Ser TCT 0.185 S Ser TCC 0.220 410 190 PASS . . . . . 0.025 0.0094 0.0029 . 0.005 0.0072 . . . . . 0.13483146 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 89.0 . . . . . . . . . . -1.1351 . . . . . . . . 8.998e-03 . . . 0.0168 0.0109 0.0410 0.0007 0.0050 0.0055 0.0042 0.0057 0.0144 0.0076 0.0414 0.0001 0.0032 0.0020 0.0029 0.0057 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0094 . . . 0.13 0.16 182 ENSG00000186818 LILRB4 LILRB4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs142100665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0010 0.0027 0.0008 0 0.0011 0.0004 0.0004 0.0006 0.0028 0.0012 0 0 0 0.0003 0.0007 0.0021 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs61743358 rs61743358 rs61743358 rs142100665 1 1538 10 1/0 0,234,255 +rs143761941 19 55179186 G A - LILRB4 6608 Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 NM_001278429.3 1 3869 1437 NP_001265358.2 substitution missense exon GRCh37 55179186 55179186 Chr19(GRCh37):g.55179186G>A 1232 1232 NM_001278429.3:c.1232G>A p.Gly411Glu p.Gly411Glu 10 604821 -59 5' 92.583 10.0326 0.996506 12.0181 92.583 10.0326 0.996506 XII.16 0 New Acceptor Site 55179188 0.272602 0.003669 68.773 rs143761941 yes no Frequency/1000G 2 G 0.000000 0 0.009385 0.025000 0.007200 0.000000 0.005000 0.002900 0.000389 0.002504 0.000175 0.000000 0.000000 0.000033 0.000208 0.000538 0.000313 0.002504 106 58 6 0 0 1 26 13 2 272812 23160 34342 10100 18846 30736 125044 24186 6398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 106 58 6 0 0 1 26 13 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287112|COSM4287112 Prostate|Pancreas 0.000567|0.000569 1764|1758 transition G A G>A 0.000 -0.198 G Gly GGG 0.250 E Glu GAG 0.583 411 8 4 Platypus -2 -2 -4 0.74 0.92 9 12.III 3 83 98 C0 353.86 0.00 Tolerated 0.32 III.38 174 PASS . . . . . 0.025 0.0094 0.0029 . 0.005 0.0072 . . . . . 0.10204082 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.021 . . 98.0 . . . . . . . . . . -1.7342 -1.786 -1.734 c . . . . . 3.244e-03 . . . 0.0131 0.0038 0.0016 0.0005 0.0013 0.0041 0 0.0008 0.0104 0.0016 0.0014 0.0001 0.0008 0.0007 0 0.0008 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.068 0.0094 . . . 0.11 0.13 182 ENSG00000186818 LILRB4 LILRB4 . . . 0.001 0.077 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.002 . . 0.201 . . . 0.263 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.090 . . 0.040 . . . . . . 1 0.085 . . . . . 0.248 . 0.321 . LowAF 0.53 rs143761941 . . . . . . . . . . . . 7.1813 0.002142 . II.36 -2.07 . 0.710000 . . . . . . 0.012 . . . 0.0028 0.0003 0.0002 0 0 0.0006 0.0002 0 3.254e-05 0.0020 0.0009 0 0 0 0 0.0005 0.0021 . . 0.609 . -0.416 -0.416000 . . 0.710000 . . 1.0E-174 0.000 0.063 . 0.016 0.001 . 0.013 . 0.006 -0.416 -0.467 . . . rs143761941 rs143761941 1 1538 10 1/0 0,227,255 +. (chr19:55209080 G/A) 19 55209080 G A No Alamut gene - other known genes: LILRP1 LILRP1 +. 19 55237554 G A - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution missense exon GRCh37 55237554 55237554 Chr19(GRCh37):g.55237554G>A 106 106 NM_153443.4:c.106G>A p.Gly36Ser p.Gly36Ser 3 610095 36 3' 88.5934 XI.45 0.991945 XII.57 88.5934 XI.45 0.991945 XI.12 0 New Acceptor Site 55237556 4.69608 0.556421 74.544 Immunoglobulin subtype transition G A G>A 0.004 -0.279 G Gly GGC 0.342 S Ser AGC 0.243 36 7 1 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 200.65 0.00 Tolerated 0.98 3.III 179 PASS . . . . . . . . . . . ENSG00000242019:ENST00000291860:exon3:c.G106A:p.G36S KIR3DL3:uc002qgu.1:exon3:c.G106A:p.G36S KIR3DL3:NM_153443:exon3:c.G106A:p.G36S . . 0.110526316 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.041 . . 190.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G36S|KIR3DL3|mRNA|CODING|NM_153443|NM_153443.ex.3) . . . . . . . -1.8906 -1.859 -1.891 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.169 @ . . . . . . ENSG00000242019 KIR3DL3 KIR3DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.144 . . . . T 0.011 0.001 . . 37 . 0.003 . . 0.417 . . . 0.006 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.003 . . 0 0 0 0 0 0 . 0.112 . . 0.093 . . . . . . 0 0.010 . . . . . 0.115 . 0.012 . LowAF 1 . . . . . . . . . . . . . 4.573 . ENST00000291860 I.79 0.652 . 1.000000 Q8N743 . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.557 -0.557000 . . 1.000000 . . 1.0E-179 0.000 0.063 . 0.016 0.001 . 0.062 . 0.023 -0.557 -1.654 . . . . . 1 1538 10 1/0 0,199,255 +rs184617204 19 55237591 A T - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution missense exon GRCh37 55237591 55237591 Chr19(GRCh37):g.55237591A>T 143 143 NM_153443.4:c.143A>T p.Gln48Leu p.Gln48Leu 3 610095 73 3' 88.5934 XI.45 0.991945 XII.57 88.5934 XI.45 0.991945 XII.77 0 Immunoglobulin Immunoglobulin subtype Immunoglobulin subtype 2 rs184617204 no no 0 0.000000 0 transversion A T A>T 0.000 -1.409 Q Gln CAG 0.744 L Leu CTG 0.404 48 7 4 Opossum -2 -2 -4 0.89 0 10.V 4.IX 85 111 113 C0 116.87 IV.86 Tolerated 0.55 3.III 186 PASS . . . . . . . . . . . ENSG00000242019:ENST00000291860:exon3:c.A143T:p.Q48L KIR3DL3:uc002qgu.1:exon3:c.A143T:p.Q48L KIR3DL3:NM_153443:exon3:c.A143T:p.Q48L . . 0.1254902 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.049 . . 255.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cTg|Q48L|KIR3DL3|mRNA|CODING|NM_153443|NM_153443.ex.3) . . . . . . . -1.5771 -1.726 -1.577 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.124 . . exonic exonic exonic . . 0.043 @ . . . 0.4 0.3 182 ENSG00000242019 KIR3DL3 KIR3DL3 . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . 0.031 . . . . T 0.004 0.001 . . 37 . 0.120 . . 0.292 . . . 0.344 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.559 . . 0 0 0 0 0 0 . 0.090 . . 0.179 . . . . . . 0 0.721 . . . . . 0.048 . 0.169 . LowAF 0 . . . . . . . . . . . . . II.53 . ENST00000291860 I.79 -3.57 . 0.000000 Q8N743 . . . . . 0.015 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.911 -1.911000 . . 0.000000 . . 1.0E-186 0.000 0.063 . 0.043 0.004 . 0.018 . 0.076 -1.911 -0.168 . . . rs184617204 rs184617204 1 1538 10 1/0 0,188,255 +rs34847288 (chr19:55241209 C/T) 19 55241209 C T Transcript NM_153443.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) KIR3DL3 +rs602444 19 55246731 C T - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution missense exon GRCh37 55246731 55246731 Chr19(GRCh37):g.55246731C>T 961 961 NM_153443.4:c.961C>T p.Asn321Tyr p.Asn321Tyr 6 610095 12 3' 94.5995 11.248 0.983373 X.42 94.5995 11.248 0.986704 10.273 0.00112911 Immunoglobulin subtype rs602444 yes no Frequency/1000G 2 0.000000 0 COSM4132517|COSM4132517|COSM4132517 Thyroid|Breast|Biliary tract 0.001339|0.000408|0.002732 747|2453|366 transition C T C>T 0.004 -0.117 N Asn AAC 0.536 Y Tyr TAC 0.562 321 7 3 Mouse -2 -2 -4 I.33 0.2 11.VI 6.II 56 136 143 C15 91.35 73.82 Tolerated 0.12 3.III 255 PASS . . . . . . . . . . . ENSG00000242019:ENST00000291860:exon6:c.C961T:p.H321Y KIR3DL3:uc002qgu.1:exon6:c.C961T:p.H321Y KIR3DL3:NM_153443:exon6:c.C961T:p.H321Y . . 0.46464646 . . @ 46 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 99.0 . . . . . . . . . . -1.0085 -1.186 -1.008 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.109 0.2350 . . . 0.2 0.25 182 ENSG00000242019 KIR3DL3 KIR3DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.029 0.002 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.077 . . . HET 0.04 . 0.228 0.275 . . . . . . . . . . III.49 . ENST00000291860 0.929 -0.622 . 0.050000 Q8N743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.127 -0.127000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.043 . . 0.090 . 0.003 -0.127 . 0.23 rs602444 rs602444 rs602444 rs602444 1 1538 10 1/0 0,255,255 +rs662386 19 55246741 T C - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution missense exon GRCh37 55246741 55246741 Chr19(GRCh37):g.55246741T>C 971 971 NM_153443.4:c.971T>C p.Val324Ala p.Val324Ala 6 610095 22 3' 94.5995 11.248 0.983373 X.42 94.5995 11.248 0.983373 X.59 0 Immunoglobulin subtype rs662386 yes no Frequency 1 0.000000 0 COSM321264|COSM321264|COSM321264|COSM321264 Lung|Central nervous system|Breast|Biliary tract 0.000419|0.000839|0.000408|0.002732 2389|2383|2453|366 transition T C T>C 0.004 0.690 V Val GTT 0.178 A Ala GCT 0.263 324 7 2 Macaque 0 0 -1 0 0 5.IX 8.I 84 31 64 C25 30.92 65.28 Deleterious 0.02 3.III 255 PASS . . . . . . . . . . . ENSG00000242019:ENST00000291860:exon6:c.T971C:p.V324A KIR3DL3:uc002qgu.1:exon6:c.T971C:p.V324A KIR3DL3:NM_153443:exon6:c.T971C:p.V324A . . 0.47368422 . . @ 45 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.051 . @ . . . . . 1 0.059 . . 95.0 . . . . . . . . . . -0.9599 -1.085 -0.960 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.185 @ . . . 0.29 0.29 182 ENSG00000242019 KIR3DL3 KIR3DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.419 . . . 0.459 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.500 . . 0 0 0 0 0 0 . 0.135 . . 0.190 . . . . . . 0 0.359 . . . . . 0.094 . 0.193 . HET 0.1 . 0.228 0.275 . . . . . . . . . . 4.1028 . ENST00000291860 0.929 0.929 . 0.060000 Q8N743 . . . . . 0.040 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.661 0.661000 . . 0.060000 . . 1.0E-255 0.001 0.137 . 0.090 0.015 . 0.235 . 0.266 0.661 0.643 0.23 rs662386 rs662386 rs662386 rs200656314 1 1538 10 1/0 0,255,255 +. 19 55247211 T C - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution intron GRCh37 55247211 55247211 Chr19(GRCh37):g.55247211T>C 1055-76 1055-76 NM_153443.4:c.1055-76T>C p.? p.? 7 6 610095 -76 3' 85.984 11.1234 0.955413 12.1303 85.984 11.1234 0.955413 12.1078 0 transition T C T>C 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.6684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.22 0.28 182 ENSG00000215765 KIR3DL3 KIR3DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.228 0.261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.23 rs11880171 rs11880171 rs11880171 rs11880171 1 1538 10 1/0 0,255,255 +. 19 55247364 G A - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution intron GRCh37 55247364 55247364 Chr19(GRCh37):g.55247364G>A 1107+25 1107+25 NM_153443.4:c.1107+25G>A p.? p.? 7 7 610095 25 5' 86.8647 IX.15 0.93013 8.48604 86.8647 IX.15 0.93013 8.59162 0 0.000021 0.000000 0.000000 0.000000 0.000054 0.000083 0.000018 0.000000 0.000000 0.000083 5 0 0 0 1 2 2 0 0 240306 18460 31350 8462 18448 24070 110776 23200 5540 0.000017 0.000000 0.000000 0.000000 0.000000 0.000083 0.000018 0.000000 0.000000 2 0 0 0 0 1 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.51578945 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.7299 . . . . . . . . 2.599e-05 . . . 0 3.868e-05 0 0 0 0 0 0.0002 0 3.255e-05 0 0 0 0 0 0.0002 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.23 0.31 182 ENSG00000215765 KIR3DL3 KIR3DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.859e-05 0 0 0 0 2.031e-05 0 8.309e-05 0 3.976e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs11882756 rs11882756 rs11882756 rs111522437 1 1538 10 1/0 0,255,255 +. 19 55247393 G A - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution intron GRCh37 55247393 55247393 Chr19(GRCh37):g.55247393G>A 1108-45 1108-45 NM_153443.4:c.1108-45G>A p.? p.? 8 7 610095 -45 3' 89.0625 9.91935 0.970991 XII.08 89.0625 9.91935 0.970991 XII.97 0 0.029153 0.070300 0.013300 0.000000 0.021900 0.025900 0.000042 0.000055 0.000064 0.000000 0.000000 0.000166 0.000027 0.000000 0.000000 0.000166 10 1 2 0 0 4 3 0 0 239582 18190 31300 8422 18440 24050 110350 23314 5516 0.000033 0.000000 0.000064 0.000000 0.000000 0.000166 0.000018 0.000000 0.000000 4 0 1 0 0 2 1 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.117 255 PASS . . . . . 0.07 0.029 0.026 . 0.022 0.013 . . . . . 0.52427185 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . . . . . . . . . -0.5273 . . . . . . . . 6.225e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.23 0.26 182 ENSG00000215765 KIR3DL3 KIR3DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.191e-05 6.543e-05 0 0 0 3.057e-05 0 0.0002 0.0002 4.028e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs11882760 rs11882760 rs11882760 rs11882760 1 1538 10 1/0 0,255,255 +rs676354 19 55247614 T C - KIR3DL3 16312 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NM_153443.4 1 1723 1233 NP_703144.3 Q8N743 substitution 3'UTR GRCh37 55247614 55247614 Chr19(GRCh37):g.55247614T>C *51 *51 NM_153443.4:c.*51T>C p.? p.? 8 610095 177 3' 89.0625 9.91935 0.970991 XII.08 89.0625 9.91935 0.970991 XII.08 0 Cryptic Acceptor Weakly Activated 55247617 5.38076 0.374372 75.7373 5.87356 0.294075 81.914 rs676354 yes no Frequency/1000G 2 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 215288 12152 30612 8208 16906 24086 98272 20352 4700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 94 Exomes transition T C T>C 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.52409637 . . @ 87 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 166.0 . . . . . . . . . . -0.4407 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic UTR3 UTR3 . . . 0.0004 . . . 0.49 0.71 182 ENSG00000215765 KIR3DL3 KIR3DL3 . uc002qgu.1:c.*51T>C NM_153443:c.*51T>C . . . 597 0.00918801 64976 595 0.00991898 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.283 0.391 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.28 rs676354 rs676354 rs676354 rs117959702 1 1538 10 1/0 0,243,255 +rs574662959 19 55250801 C G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250801 55250801 Chr19(GRCh37):g.55250801C>G 35-152 35-152 NM_015868.2:c.35-152C>G p.? p.? 2 1 604938 -152 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs574662959 yes no Frequency/1000G 2 0.035743 G 179 0.035743 0.025700 0.094100 0.006900 0.022900 0.033100 transversion C G C>G 0.665 0.125 179 PASS . . . . . 0.026 0.036 0.033 0.0069 0.023 0.094 . . . . . 0.11001965 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 509.0 . . . . . . . . . . -0.4360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0357 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,157,251 +rs574662959 19 55250801 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250801 55250801 Chr19(GRCh37):g.55250801C>G 35-152 35-152 NM_001291695.1:c.35-152C>G p.? p.? 2 1 604953 -152 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs574662959 yes no Frequency/1000G 2 0.035743 G 179 0.035743 0.025700 0.094100 0.006900 0.022900 0.033100 transversion C G C>G 0.665 0.125 179 PASS . . . . . 0.026 0.036 0.033 0.0069 0.023 0.094 . . . . . 0.11001965 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 509.0 . . . . . . . . . . -0.4360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0357 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,157,251 +rs574662959 19 55250801 C G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250801 55250801 Chr19(GRCh37):g.55250801C>G 35-152 35-152 NM_014513.2:c.35-152C>G p.? p.? 2 1 604956 -152 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs574662959 yes no Frequency/1000G 2 0.035743 G 179 0.035743 0.025700 0.094100 0.006900 0.022900 0.033100 transversion C G C>G 0.665 0.125 179 PASS . . . . . 0.026 0.036 0.033 0.0069 0.023 0.094 . . . . . 0.11001965 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 509.0 . . . . . . . . . . -0.4360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0357 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,157,251 +rs878933104 19 55250823 T C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250823 55250823 Chr19(GRCh37):g.55250823T>C 35-130 35-130 NM_015868.2:c.35-130T>C p.? p.? 2 1 604938 -130 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878933104 no no 0 0.000000 0 transition T C T>C 0.173 -3.588 194 PASS . . . . . . . . . . . . . . . . 0.14376996 . . @ 90 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 626.0 . . . . . . . . . . -1.1671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,232 +rs878933104 19 55250823 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250823 55250823 Chr19(GRCh37):g.55250823T>C 35-130 35-130 NM_001291695.1:c.35-130T>C p.? p.? 2 1 604953 -130 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878933104 no no 0 0.000000 0 transition T C T>C 0.173 -3.588 194 PASS . . . . . . . . . . . . . . . . 0.14376996 . . @ 90 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 626.0 . . . . . . . . . . -1.1671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,232 +rs878933104 19 55250823 T C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250823 55250823 Chr19(GRCh37):g.55250823T>C 35-130 35-130 NM_014513.2:c.35-130T>C p.? p.? 2 1 604956 -130 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs878933104 no no 0 0.000000 0 transition T C T>C 0.173 -3.588 194 PASS . . . . . . . . . . . . . . . . 0.14376996 . . @ 90 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 626.0 . . . . . . . . . . -1.1671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,150,232 +rs878999246 19 55250843 A C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250843 55250843 Chr19(GRCh37):g.55250843A>C 35-110 35-110 NM_015868.2:c.35-110A>C p.? p.? 2 1 604938 -110 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878999246 no no 0 0.000000 0 transversion A C A>C 0.205 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.34708393 . . @ 244 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 703.0 . . . . . . . . . . -0.7767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,162,197 +rs878999246 19 55250843 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250843 55250843 Chr19(GRCh37):g.55250843A>C 35-110 35-110 NM_001291695.1:c.35-110A>C p.? p.? 2 1 604953 -110 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878999246 no no 0 0.000000 0 transversion A C A>C 0.205 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.34708393 . . @ 244 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 703.0 . . . . . . . . . . -0.7767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,162,197 +rs878999246 19 55250843 A C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250843 55250843 Chr19(GRCh37):g.55250843A>C 35-110 35-110 NM_014513.2:c.35-110A>C p.? p.? 2 1 604956 -110 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs878999246 no no 0 0.000000 0 transversion A C A>C 0.205 -1.732 255 PASS . . . . . . . . . . . . . . . . 0.34708393 . . @ 244 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 703.0 . . . . . . . . . . -0.7767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,162,197 +. 19 55250849 A G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250849 55250849 Chr19(GRCh37):g.55250849A>G 35-104 35-104 NM_015868.2:c.35-104A>G p.? p.? 2 1 604938 -104 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 Cryptic Acceptor Strongly Activated 55250856 0.00601 3.45905 0.01036 77.9275 rs933659433 no no 0 0.000000 0 transition A G A>G 0.150 0.367 199 PASS . . . . . . . . . . . . . . . . 0.15598886 . . @ 112 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 718.0 . . . . . . . . . . -0.3118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,235 +. 19 55250849 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250849 55250849 Chr19(GRCh37):g.55250849A>G 35-104 35-104 NM_001291695.1:c.35-104A>G p.? p.? 2 1 604953 -104 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 Cryptic Acceptor Strongly Activated 55250856 0.00601 3.45905 0.01036 77.9275 rs933659433 no no 0 0.000000 0 transition A G A>G 0.150 0.367 199 PASS . . . . . . . . . . . . . . . . 0.15598886 . . @ 112 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 718.0 . . . . . . . . . . -0.3118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,235 +. 19 55250849 A G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250849 55250849 Chr19(GRCh37):g.55250849A>G 35-104 35-104 NM_014513.2:c.35-104A>G p.? p.? 2 1 604956 -104 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 Cryptic Acceptor Strongly Activated 55250856 0.00601 3.45905 0.01036 77.9275 rs933659433 no no 0 0.000000 0 transition A G A>G 0.150 0.367 199 PASS . . . . . . . . . . . . . . . . 0.15598886 . . @ 112 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 718.0 . . . . . . . . . . -0.3118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,146,235 +rs878876440 19 55250856 G C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250856 55250856 Chr19(GRCh37):g.55250856G>C 35-97 35-97 NM_015868.2:c.35-97G>C p.? p.? 2 1 604938 -97 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878876440 no no 0 0.000000 0 transversion G C G>C 0.031 -2.377 223 PASS . . . . . . . . . . . . . . . . 0.22164276 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 767.0 . . . . . . . . . . -0.8628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,149,214 +rs878876440 19 55250856 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250856 55250856 Chr19(GRCh37):g.55250856G>C 35-97 35-97 NM_001291695.1:c.35-97G>C p.? p.? 2 1 604953 -97 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs878876440 no no 0 0.000000 0 transversion G C G>C 0.031 -2.377 223 PASS . . . . . . . . . . . . . . . . 0.22164276 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 767.0 . . . . . . . . . . -0.8628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,149,214 +rs878876440 19 55250856 G C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250856 55250856 Chr19(GRCh37):g.55250856G>C 35-97 35-97 NM_014513.2:c.35-97G>C p.? p.? 2 1 604956 -97 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs878876440 no no 0 0.000000 0 transversion G C G>C 0.031 -2.377 223 PASS . . . . . . . . . . . . . . . . 0.22164276 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 767.0 . . . . . . . . . . -0.8628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,149,214 +rs200013507 19 55250869 G A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250869 55250869 Chr19(GRCh37):g.55250869G>A 35-84 35-84 NM_015868.2:c.35-84G>A p.? p.? 2 1 604938 -84 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs200013507 yes no Frequency/1000G 2 0.000000 0 0.040934 0.074900 0.067500 0.002000 0.017900 0.028800 0.000651 0.002370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002370 16 16 0 0 0 0 0 0 0 24590 6752 712 228 1496 0 11532 3082 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 16 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition G A G>A 0.118 -1.893 255 PASS . . . . . 0.075 0.041 0.029 0.002 0.018 0.068 . . . . . 0.40550688 . . @ 324 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 799.0 . . . . . . . . . . -0.9801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0409 . . . 0.46 0.22 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0007 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200013507 rs200013507 1 1538 10 1/0 0,163,192 +rs200013507 19 55250869 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250869 55250869 Chr19(GRCh37):g.55250869G>A 35-84 35-84 NM_001291695.1:c.35-84G>A p.? p.? 2 1 604953 -84 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.32379 0 rs200013507 yes no Frequency/1000G 2 0.000000 0 0.040934 0.074900 0.067500 0.002000 0.017900 0.028800 0.000651 0.002370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002370 16 16 0 0 0 0 0 0 0 24590 6752 712 228 1496 0 11532 3082 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 16 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition G A G>A 0.118 -1.893 255 PASS . . . . . 0.075 0.041 0.029 0.002 0.018 0.068 . . . . . 0.40550688 . . @ 324 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 799.0 . . . . . . . . . . -0.9801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0409 . . . 0.46 0.22 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0007 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200013507 rs200013507 1 1538 10 1/0 0,163,192 +rs200013507 19 55250869 G A - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250869 55250869 Chr19(GRCh37):g.55250869G>A 35-84 35-84 NM_014513.2:c.35-84G>A p.? p.? 2 1 604956 -84 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.77652 0 rs200013507 yes no Frequency/1000G 2 0.000000 0 0.040934 0.074900 0.067500 0.002000 0.017900 0.028800 0.000651 0.002370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002370 16 16 0 0 0 0 0 0 0 24590 6752 712 228 1496 0 11532 3082 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 16 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition G A G>A 0.118 -1.893 255 PASS . . . . . 0.075 0.041 0.029 0.002 0.018 0.068 . . . . . 0.40550688 . . @ 324 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 799.0 . . . . . . . . . . -0.9801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0409 . . . 0.46 0.22 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0007 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200013507 rs200013507 1 1538 10 1/0 0,163,192 +rs796867134 19 55250885 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250885 55250885 Chr19(GRCh37):g.55250885C>T 35-68 35-68 NM_015868.2:c.35-68C>T p.? p.? 2 1 604938 -68 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.1891 0 rs796867134 no no 0 0.000000 0 transition C T C>T 0.071 -0.037 195 PASS . . . . . . . . . . . . . . . . 0.15855181 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 801.0 . . . . . . . . . . -0.3395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,236 +rs796867134 19 55250885 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250885 55250885 Chr19(GRCh37):g.55250885C>T 35-68 35-68 NM_001291695.1:c.35-68C>T p.? p.? 2 1 604953 -68 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.1891 0 rs796867134 no no 0 0.000000 0 transition C T C>T 0.071 -0.037 195 PASS . . . . . . . . . . . . . . . . 0.15855181 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 801.0 . . . . . . . . . . -0.3395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,236 +rs796867134 19 55250885 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250885 55250885 Chr19(GRCh37):g.55250885C>T 35-68 35-68 NM_014513.2:c.35-68C>T p.? p.? 2 1 604956 -68 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.64184 0 rs796867134 no no 0 0.000000 0 transition C T C>T 0.071 -0.037 195 PASS . . . . . . . . . . . . . . . . 0.15855181 . . @ 127 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 801.0 . . . . . . . . . . -0.3395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,142,236 +rs370863322 19 55250893 G A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250893 55250893 Chr19(GRCh37):g.55250893G>A 35-60 35-60 NM_015868.2:c.35-60G>A p.? p.? 2 1 604938 -60 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.16778 0 rs370863322 no no 0 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000000 0.000000 0.000166 0.000000 0.000000 0.000166 2 0 0 0 0 0 2 0 0 25836 7310 732 230 1528 0 12064 3154 818 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 31 Genomes transition G A G>A 0.031 -0.037 196 PASS . . . . . . . . . . . . . . . . 0.16273291 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 805.0 . . . . . . . . . . -0.3176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.741e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs370863322 rs370863322 1 1538 10 1/0 0,142,237 +rs370863322 19 55250893 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250893 55250893 Chr19(GRCh37):g.55250893G>A 35-60 35-60 NM_001291695.1:c.35-60G>A p.? p.? 2 1 604953 -60 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.16778 0 rs370863322 no no 0 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000000 0.000000 0.000166 0.000000 0.000000 0.000166 2 0 0 0 0 0 2 0 0 25836 7310 732 230 1528 0 12064 3154 818 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 31 Genomes transition G A G>A 0.031 -0.037 196 PASS . . . . . . . . . . . . . . . . 0.16273291 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 805.0 . . . . . . . . . . -0.3176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.741e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs370863322 rs370863322 1 1538 10 1/0 0,142,237 +rs370863322 19 55250893 G A - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250893 55250893 Chr19(GRCh37):g.55250893G>A 35-60 35-60 NM_014513.2:c.35-60G>A p.? p.? 2 1 604956 -60 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.62051 0 rs370863322 no no 0 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000000 0.000000 0.000166 0.000000 0.000000 0.000166 2 0 0 0 0 0 2 0 0 25836 7310 732 230 1528 0 12064 3154 818 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 31 Genomes transition G A G>A 0.031 -0.037 196 PASS . . . . . . . . . . . . . . . . 0.16273291 . . @ 131 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 805.0 . . . . . . . . . . -0.3176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.741e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . rs370863322 rs370863322 1 1538 10 1/0 0,142,237 +rs374283457 19 55250894 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250894 55250894 Chr19(GRCh37):g.55250894C>T 35-59 35-59 NM_015868.2:c.35-59C>T p.? p.? 2 1 604938 -59 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.50601 0 rs374283457 yes no Frequency/1000G 2 0.000000 0 0.027356 0.016600 0.077700 0.003000 0.019900 0.023100 transition C T C>T 0.024 0.125 202 PASS . . . . . 0.017 0.027 0.023 0.003 0.02 0.078 . . . . . 0.16393442 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 793.0 . . . . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0274 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs374283457 rs374283457 1 1538 10 1/0 0,142,236 +rs374283457 19 55250894 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250894 55250894 Chr19(GRCh37):g.55250894C>T 35-59 35-59 NM_001291695.1:c.35-59C>T p.? p.? 2 1 604953 -59 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.50601 0 rs374283457 yes no Frequency/1000G 2 0.000000 0 0.027356 0.016600 0.077700 0.003000 0.019900 0.023100 transition C T C>T 0.024 0.125 202 PASS . . . . . 0.017 0.027 0.023 0.003 0.02 0.078 . . . . . 0.16393442 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 793.0 . . . . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0274 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs374283457 rs374283457 1 1538 10 1/0 0,142,236 +rs374283457 19 55250894 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250894 55250894 Chr19(GRCh37):g.55250894C>T 35-59 35-59 NM_014513.2:c.35-59C>T p.? p.? 2 1 604956 -59 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.95874 0 rs374283457 yes no Frequency/1000G 2 0.000000 0 0.027356 0.016600 0.077700 0.003000 0.019900 0.023100 transition C T C>T 0.024 0.125 202 PASS . . . . . 0.017 0.027 0.023 0.003 0.02 0.078 . . . . . 0.16393442 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 793.0 . . . . . . . . . . -0.3458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0274 . . . . . . ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs374283457 rs374283457 1 1538 10 1/0 0,142,236 +rs113110613 19 55250902 G A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250902 55250902 Chr19(GRCh37):g.55250902G>A 35-51 35-51 NM_015868.2:c.35-51G>A p.? p.? 2 1 604938 -51 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.08507 0 rs113110613 yes no Frequency 1 0.000000 0 transition G A G>A 0.008 -0.037 207 PASS . . . . . . . . . . . . . . . . 0.17490494 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 789.0 . . . . . . . . . . -0.3383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.46 0.26 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs113110613 rs113110613 1 1538 10 1/0 0,144,236 +rs113110613 19 55250902 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250902 55250902 Chr19(GRCh37):g.55250902G>A 35-51 35-51 NM_001291695.1:c.35-51G>A p.? p.? 2 1 604953 -51 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.08507 0 rs113110613 yes no Frequency 1 0.000000 0 transition G A G>A 0.008 -0.037 207 PASS . . . . . . . . . . . . . . . . 0.17490494 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 789.0 . . . . . . . . . . -0.3383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.46 0.26 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs113110613 rs113110613 1 1538 10 1/0 0,144,236 +rs113110613 19 55250902 G A - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250902 55250902 Chr19(GRCh37):g.55250902G>A 35-51 35-51 NM_014513.2:c.35-51G>A p.? p.? 2 1 604956 -51 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 V.78 0 rs113110613 yes no Frequency 1 0.000000 0 transition G A G>A 0.008 -0.037 207 PASS . . . . . . . . . . . . . . . . 0.17490494 . . @ 138 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 789.0 . . . . . . . . . . -0.3383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.46 0.26 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs113110613 rs113110613 1 1538 10 1/0 0,144,236 +rs630832 19 55250906 C G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250906 55250906 Chr19(GRCh37):g.55250906C>G 35-47 35-47 NM_015868.2:c.35-47C>G p.? p.? 2 1 604938 -47 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.38764 0 rs630832 yes no Frequency 1 0.000000 0 0.000017 0.000051 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000051 4 1 0 0 0 0 3 0 0 233858 19662 29448 7986 18048 23172 107048 23202 5292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.016 -0.763 228 PASS . . . . . . . . . . . . . . . . 0.23636363 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 770.0 . . . . . . . . . . -0.3571 . . . . . . . . 2.599e-05 . . . . . . . . . . . 0 3.331e-05 0 0 0 6.509e-05 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.25 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.445e-05 0 0 0 0 3.165e-05 0 0 0.0001 3.814e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.17 rs630832 rs630832 rs630832 rs201928124 1 1538 10 1/0 0,151,233 +rs630832 19 55250906 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250906 55250906 Chr19(GRCh37):g.55250906C>G 35-47 35-47 NM_001291695.1:c.35-47C>G p.? p.? 2 1 604953 -47 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.38764 0 rs630832 yes no Frequency 1 0.000000 0 0.000017 0.000051 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000051 4 1 0 0 0 0 3 0 0 233858 19662 29448 7986 18048 23172 107048 23202 5292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.016 -0.763 228 PASS . . . . . . . . . . . . . . . . 0.23636363 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 770.0 . . . . . . . . . . -0.3571 . . . . . . . . 2.599e-05 . . . . . . . . . . . 0 3.331e-05 0 0 0 6.509e-05 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.25 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.445e-05 0 0 0 0 3.165e-05 0 0 0.0001 3.814e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.17 rs630832 rs630832 rs630832 rs201928124 1 1538 10 1/0 0,151,233 +rs630832 19 55250906 C G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250906 55250906 Chr19(GRCh37):g.55250906C>G 35-47 35-47 NM_014513.2:c.35-47C>G p.? p.? 2 1 604956 -47 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.84037 0 rs630832 yes no Frequency 1 0.000000 0 0.000017 0.000051 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000051 4 1 0 0 0 0 3 0 0 233858 19662 29448 7986 18048 23172 107048 23202 5292 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.016 -0.763 228 PASS . . . . . . . . . . . . . . . . 0.23636363 . . @ 182 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 770.0 . . . . . . . . . . -0.3571 . . . . . . . . 2.599e-05 . . . . . . . . . . . 0 3.331e-05 0 0 0 6.509e-05 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.25 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.445e-05 0 0 0 0 3.165e-05 0 0 0.0001 3.814e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.17 rs630832 rs630832 rs630832 rs201928124 1 1538 10 1/0 0,151,233 +rs630843 19 55250913 T C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55250913 55250913 Chr19(GRCh37):g.55250913T>C 35-40 35-40 NM_015868.2:c.35-40T>C p.? p.? 2 1 604938 -40 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.20492 0 Cryptic Donor Strongly Activated 55250909 0.724257 0.005875 65.6611 1.73327 0.015457 65.0494 rs630843 yes no Frequency 1 0.000000 0 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000081 0.000000 0.000000 0.000081 1 0 0 0 0 0 1 0 0 26376 7502 744 236 1550 0 12312 3196 836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.110 0.932 225 PASS . . . . . . . . . . . . . . . . 0.22636485 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 751.0 . . . . . . . . . . -0.2981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.29 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.791e-05 0 0 0 0 8.122e-05 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . 0.17 rs630843 rs630843 rs630843 rs200532192 1 1538 10 1/0 0,151,237 +rs630843 19 55250913 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55250913 55250913 Chr19(GRCh37):g.55250913T>C 35-40 35-40 NM_001291695.1:c.35-40T>C p.? p.? 2 1 604953 -40 3' 96.9454 9.89617 0.996298 7.32379 96.9454 9.89617 0.996298 7.20492 0 Cryptic Donor Strongly Activated 55250909 0.724257 0.005875 65.6611 1.73327 0.015457 65.0494 rs630843 yes no Frequency 1 0.000000 0 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000081 0.000000 0.000000 0.000081 1 0 0 0 0 0 1 0 0 26376 7502 744 236 1550 0 12312 3196 836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.110 0.932 225 PASS . . . . . . . . . . . . . . . . 0.22636485 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 751.0 . . . . . . . . . . -0.2981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.29 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.791e-05 0 0 0 0 8.122e-05 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . 0.17 rs630843 rs630843 rs630843 rs200532192 1 1538 10 1/0 0,151,237 +rs630843 19 55250913 T C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55250913 55250913 Chr19(GRCh37):g.55250913T>C 35-40 35-40 NM_014513.2:c.35-40T>C p.? p.? 2 1 604956 -40 3' 91.1869 8.98111 0.991893 5.77652 91.1869 8.98111 0.991893 5.65765 0 Cryptic Donor Strongly Activated 55250909 0.724257 0.005875 65.6611 1.73327 0.015457 65.0494 rs630843 yes no Frequency 1 0.000000 0 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000081 0.000000 0.000000 0.000081 1 0 0 0 0 0 1 0 0 26376 7502 744 236 1550 0 12312 3196 836 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.110 0.932 225 PASS . . . . . . . . . . . . . . . . 0.22636485 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 751.0 . . . . . . . . . . -0.2981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.39 0.29 182 ENSG00000215765 KIR2DL3 KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.174 0.217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.791e-05 0 0 0 0 8.122e-05 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . 0.17 rs630843 rs630843 rs630843 rs200532192 1 1538 10 1/0 0,151,237 +. 19 55253465 C G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55253465 55253465 Chr19(GRCh37):g.55253465C>G 110 110 NM_015868.2:c.110C>G p.Pro37Arg p.Pro37Arg 3 604938 40 3' 80.8813 8.86552 0.902226 X.89 80.8813 8.86552 0.902226 11.0304 0 Immunoglobulin subtype 0.000154 0.000000 0.000000 0.000000 0.000061 0.001357 0.000000 0.000000 0.000000 0.001357 31 0 0 0 1 30 0 0 0 200962 11926 28140 7224 16464 22100 91354 19372 4382 0.322581 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 0.000000 10 0 0 0 0 10 0 0 0 11 0 0 0 1 10 0 0 0 0 0 0 0 0 0 0 0 0 RF 52 Exomes COSM4132522 Thyroid 0.002677 747 transversion C G C>G 0.000 0.205 P Pro CCC 0.328 R Arg CGC 0.190 37 7 6 Platypus -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C15 73.35 95.06 Deleterious 0.01 II.97 bad 5.578E-6 0.002885 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.C110G:p.P37R . . 0.42713568 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.059 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P37R|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.0387 -1.208 -1.039 c . . . . . 9.769e-05 . . . 0 5.031e-05 0 0 0 0 0 0.0004 0 4.164e-05 0 0 0 0 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.161 @ . . . 0.2 0.16 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.071 . . 0.197 . . . 0.843 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.876 . . 0 0 0 0 0 0 . 0.318 . . 0.288 . . . . . . 0 0.231 . . . . . 0.180 . 0.311 . HET 0.11 . . . . . . . . . . . . . V.58 . . 1.VI 0.507 . 0.150000 . . . . . . 0.055 . . . 0 0.0002 0 0 6.074e-05 0 0 0 0.0014 . . . . . . . . . . 0.133 . 0.253 0.253000 . . 0.150000 . . 1.0E-255 0.004 0.165 . 0.074 0.209 . 0.388 . 0.270 0.253 0.143 . rs613240 rs613240 rs613240 rs201272358 1 1538 10 1/0 0,222,241 +. 19 55253465 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55253465 55253465 Chr19(GRCh37):g.55253465C>G 110 110 NM_001291695.1:c.110C>G p.Pro37Arg p.Pro37Arg 3 604953 40 3' 80.8813 8.86552 0.902226 X.89 80.8813 8.86552 0.902226 11.0304 0 0.000154 0.000000 0.000000 0.000000 0.000061 0.001357 0.000000 0.000000 0.000000 0.001357 31 0 0 0 1 30 0 0 0 200962 11926 28140 7224 16464 22100 91354 19372 4382 0.322581 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 0.000000 10 0 0 0 0 10 0 0 0 11 0 0 0 1 10 0 0 0 0 0 0 0 0 0 0 0 0 RF 52 Exomes COSM4132522 Thyroid 0.002677 747 transversion C G C>G 0.000 0.205 P Pro CCC 0.328 R Arg CGC 0.190 37 11 7 Armadillo -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 244.67 0.00 Tolerated 0.86 II.86 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.C110G:p.P37R . . 0.42713568 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.059 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P37R|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.0387 -1.208 -1.039 c . . . . . 9.769e-05 . . . 0 5.031e-05 0 0 0 0 0 0.0004 0 4.164e-05 0 0 0 0 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.161 @ . . . 0.2 0.16 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.071 . . 0.197 . . . 0.843 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.876 . . 0 0 0 0 0 0 . 0.318 . . 0.288 . . . . . . 0 0.231 . . . . . 0.180 . 0.311 . HET 0.11 . . . . . . . . . . . . . V.58 . . 1.VI 0.507 . 0.150000 . . . . . . 0.055 . . . 0 0.0002 0 0 6.074e-05 0 0 0 0.0014 . . . . . . . . . . 0.133 . 0.253 0.253000 . . 0.150000 . . 1.0E-255 0.004 0.165 . 0.074 0.209 . 0.388 . 0.270 0.253 0.143 . rs613240 rs613240 rs613240 rs201272358 1 1538 10 1/0 0,222,241 +. 19 55253465 C G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution missense exon GRCh37 55253465 55253465 Chr19(GRCh37):g.55253465C>G 110 110 NM_014513.2:c.110C>G p.Pro37Arg p.Pro37Arg 3 604956 40 3' 80.8813 9.57447 0.964672 XI.22 80.8813 9.57447 0.964672 12.0337 0 Immunoglobulin subtype 0.000154 0.000000 0.000000 0.000000 0.000061 0.001357 0.000000 0.000000 0.000000 0.001357 31 0 0 0 1 30 0 0 0 200962 11926 28140 7224 16464 22100 91354 19372 4382 0.322581 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 0.000000 10 0 0 0 0 10 0 0 0 11 0 0 0 1 10 0 0 0 0 0 0 0 0 0 0 0 0 RF 52 Exomes COSM4132522 Thyroid 0.002677 747 transversion C G C>G 0.000 0.205 P Pro CCC 0.328 R Arg CGC 0.190 37 -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.C110G:p.P37R . . 0.42713568 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.086 . @ . . . . . 1 0.059 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P37R|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.0387 -1.208 -1.039 c . . . . . 9.769e-05 . . . 0 5.031e-05 0 0 0 0 0 0.0004 0 4.164e-05 0 0 0 0 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.035 . . exonic exonic exonic . . 0.161 @ . . . 0.2 0.16 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.071 . . 0.197 . . . 0.843 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.876 . . 0 0 0 0 0 0 . 0.318 . . 0.288 . . . . . . 0 0.231 . . . . . 0.180 . 0.311 . HET 0.11 . . . . . . . . . . . . . V.58 . . 1.VI 0.507 . 0.150000 . . . . . . 0.055 . . . 0 0.0002 0 0 6.074e-05 0 0 0 0.0014 . . . . . . . . . . 0.133 . 0.253 0.253000 . . 0.150000 . . 1.0E-255 0.004 0.165 . 0.074 0.209 . 0.388 . 0.270 0.253 0.143 . rs613240 rs613240 rs613240 rs201272358 1 1538 10 1/0 0,222,241 +rs34790392 19 55253544 A G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution synonymous exon GRCh37 55253544 55253544 Chr19(GRCh37):g.55253544A>G 189 189 NM_015868.2:c.189A>G p.Glu63= p.Glu63Glu 3 604938 119 3' 80.8813 8.86552 0.902226 X.89 80.8813 8.86552 0.902226 X.89 0 Immunoglobulin Immunoglobulin subtype rs34790392 yes no Frequency 1 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000118 0.000000 0.000000 0.000000 0.000000 0.000118 2 0 0 0 2 0 0 0 0 222294 13684 31104 8452 16904 25058 101326 20902 4864 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 66 Exomes transition A G A>G 0.000 -0.602 E Glu GAA 0.417 E Glu GAG 0.583 63 248 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.A189G:p.E63E . . 0.29758713 . . @ 111 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 373.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E63|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -0.4860 . . . . . . . . 8.467e-06 . . . . . . . . . . . 0 1.048e-05 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.17 0.19 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.997e-06 0 0 0.0001 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . rs34790392 rs34790392 rs633870 rs34790392 1 1538 10 1/0 0,187,234 +rs34790392 (chr19:55253544 A/G) 19 55253544 A G Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs34790392 (chr19:55253544 A/G) 19 55253544 A G Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs78713511 19 55253552 T A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55253552 55253552 Chr19(GRCh37):g.55253552T>A 197 197 NM_015868.2:c.197T>A p.Phe66Tyr p.Phe66Tyr 3 604938 127 3' 80.8813 8.86552 0.902226 X.89 80.8813 8.86552 0.902226 X.89 0 Immunoglobulin Immunoglobulin subtype rs78713511 yes no Frequency 1 0.000000 0 COSM321259|COSM321259|COSM321259 Thyroid|Lung|Central nervous system 0.001339|0.000419|0.000416 747|2388|2405 transversion T A T>A 0.000 -1.247 F Phe TTT 0.454 Y Tyr TAT 0.438 66 7 1 3 3 4 0 0.2 5.II 6.II 132 136 22 C0 156.90 4.V Tolerated 1 II.97 good 5.625E-1 0.5694 243 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.T197A:p.F66Y . . 0.28132993 . . @ 110 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.040 . . 391.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F66Y|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.5191 -1.709 -1.519 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.048 @ . . . 0.18 0.26 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.230 . . 0.293 . . . 0.440 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.160 . . 0 0 0 0 0 0 . 0.067 . . 0.170 . . . . . . 0 0.281 . . . . . 0.225 . 0.171 . HET 0.2 . . 0.007 . . . . . . . . . . VI.05 . . 1.VI -3.21 . 0.080000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.218 -1.218000 . . 0.080000 . . 1.0E-243 0.000 0.063 . 0.016 0.000 . 0.009 . 0.006 -1.218 -1.276 . rs673568 rs673568 rs673568 rs673568 1 1538 10 1/0 0,183,237 +rs78713511 (chr19:55253552 T/A) 19 55253552 T A Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs78713511 19 55253552 T A - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution missense exon GRCh37 55253552 55253552 Chr19(GRCh37):g.55253552T>A 197 197 NM_014513.2:c.197T>A p.Phe66Tyr p.Phe66Tyr 3 604956 127 3' 80.8813 9.57447 0.964672 XI.22 80.8813 9.57447 0.964672 XI.22 0 Immunoglobulin Immunoglobulin subtype rs78713511 yes no Frequency 1 0.000000 0 COSM321259|COSM321259|COSM321259 Thyroid|Lung|Central nervous system 0.001339|0.000419|0.000416 747|2388|2405 transversion T A T>A 0.000 -1.247 F Phe TTT 0.454 Y Tyr TAT 0.438 66 3 3 4 0 0.2 5.II 6.II 132 136 22 243 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon3:c.T197A:p.F66Y . . 0.28132993 . . @ 110 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.003 . @ . . . . . 1 0.040 . . 391.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F66Y|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.3) . . . . . . . -1.5191 -1.709 -1.519 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.048 @ . . . 0.18 0.26 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.230 . . 0.293 . . . 0.440 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.160 . . 0 0 0 0 0 0 . 0.067 . . 0.170 . . . . . . 0 0.281 . . . . . 0.225 . 0.171 . HET 0.2 . . 0.007 . . . . . . . . . . VI.05 . . 1.VI -3.21 . 0.080000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.218 -1.218000 . . 0.080000 . . 1.0E-243 0.000 0.063 . 0.016 0.000 . 0.009 . 0.006 -1.218 -1.276 . rs673568 rs673568 rs673568 rs673568 1 1538 10 1/0 0,183,237 +rs35927204 19 55253760 A C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55253760 55253760 Chr19(GRCh37):g.55253760A>C 370+35 370+35 NM_015868.2:c.370+35A>C p.? p.? 3 3 604938 35 5' 90.3087 9.21919 0.949251 8.92608 90.3087 9.21919 0.949251 9.21531 0 Cryptic Acceptor Strongly Activated 55253766 3.297 0.010743 75.5491 4.92568 0.148931 79.4055 rs35927204 no no 0 0.000000 0 transversion A C A>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.81543624 . . @ 243 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 298.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.2489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.25 0.12 182 ENSG00000215765 . KIR2DL3 . . . . . . 512 0.00787983 64976 512 0.00853532 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.098 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs35927204 rs35927204 rs35927204 rs144892307 1 1538 10 1/0 0,229,227 +rs35927204 19 55253760 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55253760 55253760 Chr19(GRCh37):g.55253760A>C 370+35 370+35 NM_001291695.1:c.370+35A>C p.? p.? 3 3 604953 35 5' 90.3087 9.21919 0.949251 8.92608 90.3087 9.21919 0.949251 9.21531 0 Cryptic Acceptor Strongly Activated 55253766 3.297 0.010743 75.5491 4.92568 0.148931 79.4055 rs35927204 no no 0 0.000000 0 transversion A C A>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.81543624 . . @ 243 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 298.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.2489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.25 0.12 182 ENSG00000215765 . KIR2DL3 . . . . . . 512 0.00787983 64976 512 0.00853532 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.098 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs35927204 rs35927204 rs35927204 rs144892307 1 1538 10 1/0 0,229,227 +rs35927204 19 55253760 A C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55253760 55253760 Chr19(GRCh37):g.55253760A>C 370+35 370+35 NM_014513.2:c.370+35A>C p.? p.? 3 3 604956 35 5' 90.3087 9.21919 0.949251 IX.82 90.3087 9.21919 0.949251 9.48743 0 Cryptic Acceptor Strongly Activated 55253766 3.297 0.010743 75.5491 4.92568 0.148931 79.4055 rs35927204 no no 0 0.000000 0 transversion A C A>C 0.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.81543624 . . @ 243 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 298.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.2489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.25 0.12 182 ENSG00000215765 . KIR2DL3 . . . . . . 512 0.00787983 64976 512 0.00853532 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.098 0.152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.098 rs35927204 rs35927204 rs35927204 rs144892307 1 1538 10 1/0 0,229,227 +. 19 55255216 G C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55255216 55255216 Chr19(GRCh37):g.55255216G>C 371-27 371-27 NM_015868.2:c.371-27G>C p.? p.? 4 3 604938 -27 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 9.14958 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182386 11046 21806 6422 14936 19382 88102 16816 3876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transversion G C G>C 0.000 -0.037 242 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.4724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.44 0.34 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs1743326 rs1743326 rs1743326 rs1743326 1 1538 10 1/0 0,255,255 +. 19 55255216 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55255216 55255216 Chr19(GRCh37):g.55255216G>C 371-27 371-27 NM_001291695.1:c.371-27G>C p.? p.? 4 3 604953 -27 3' 92.4295 X.52 0.966596 7.95657 92.4295 X.52 0.966596 VIII.84 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182386 11046 21806 6422 14936 19382 88102 16816 3876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transversion G C G>C 0.000 -0.037 242 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.4724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.44 0.34 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs1743326 rs1743326 rs1743326 rs1743326 1 1538 10 1/0 0,255,255 +. 19 55255216 G C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55255216 55255216 Chr19(GRCh37):g.55255216G>C 371-27 371-27 NM_014513.2:c.371-27G>C p.? p.? 4 3 604956 -27 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 9.14958 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 182386 11046 21806 6422 14936 19382 88102 16816 3876 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transversion G C G>C 0.000 -0.037 242 PASS . . . . . . . . . . . . . . . . 0.28301886 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.4724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.44 0.34 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . rs1743326 rs1743326 rs1743326 rs1743326 1 1538 10 1/0 0,255,255 +rs796348289 19 55255218 A G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution intron GRCh37 55255218 55255218 Chr19(GRCh37):g.55255218A>G 371-25 371-25 NM_015868.2:c.371-25A>G p.? p.? 4 3 604938 -25 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 8.21493 0 rs796348289 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 183442 11058 21822 6486 14946 19498 88590 17152 3890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition A G A>G 0.000 -2.861 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.9870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.29 0.29 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs1654629 rs1654629 rs1654629 rs1654629 1 1538 10 1/0 0,255,255 +rs796348289 19 55255218 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55255218 55255218 Chr19(GRCh37):g.55255218A>G 371-25 371-25 NM_001291695.1:c.371-25A>G p.? p.? 4 3 604953 -25 3' 92.4295 X.52 0.966596 7.95657 92.4295 X.52 0.966596 7.44374 0 rs796348289 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 183442 11058 21822 6486 14946 19498 88590 17152 3890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition A G A>G 0.000 -2.861 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.9870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.29 0.29 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs1654629 rs1654629 rs1654629 rs1654629 1 1538 10 1/0 0,255,255 +rs796348289 19 55255218 A G - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution intron GRCh37 55255218 55255218 Chr19(GRCh37):g.55255218A>G 371-25 371-25 NM_014513.2:c.371-25A>G p.? p.? 4 3 604956 -25 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 8.21493 0 rs796348289 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 183442 11058 21822 6486 14946 19498 88590 17152 3890 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 55 Exomes transition A G A>G 0.000 -2.861 233 PASS . . . . . . . . . . . . . . . . 0.25490198 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.9870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.29 0.29 182 ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . rs1654629 rs1654629 rs1654629 rs1654629 1 1538 10 1/0 0,255,255 +. 19 55255237 C CT - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 duplication splice site GRCh37 55255238 55255239 Chr19(GRCh37):g.55255238dup 371-5 371-5 NM_015868.2:c.371-5dup p.? p.? 4 3 604938 -4 3' 92.4295 X.52 0.966596 8.72775 95.1486 12.728 0.990943 13.0244 0.0965721 rs762937109 no no 0 0.000000 0 0.000405 0.001476 0.000000 0.000000 0.000000 0.000000 0.000082 0.000000 0.000000 0.001476 10 9 0 0 0 0 1 0 0 24674 6098 728 238 1540 0 12122 3126 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 9 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.25316456 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0004 0 0 0 0 8.249e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,9,60 +. 19 55255237 C CT - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 duplication splice site GRCh37 55255238 55255239 Chr19(GRCh37):g.55255238dup 371-5 371-5 NM_001291695.1:c.371-5dup p.? p.? 4 3 604953 -4 3' 92.4295 X.52 0.966596 7.95657 95.1486 12.728 0.990943 XII.32 0.0965721 rs762937109 no no 0 0.000000 0 0.000405 0.001476 0.000000 0.000000 0.000000 0.000000 0.000082 0.000000 0.000000 0.001476 10 9 0 0 0 0 1 0 0 24674 6098 728 238 1540 0 12122 3126 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 9 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.25316456 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0004 0 0 0 0 8.249e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,9,60 +. 19 55255237 C CT - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 duplication splice site GRCh37 55255238 55255239 Chr19(GRCh37):g.55255238dup 371-5 371-5 NM_014513.2:c.371-5dup p.? p.? 4 3 604956 -4 3' 92.4295 X.52 0.966596 8.72775 95.1486 12.728 0.990943 13.0244 0.0965721 rs762937109 no no 0 0.000000 0 0.000405 0.001476 0.000000 0.000000 0.000000 0.000000 0.000082 0.000000 0.000000 0.001476 10 9 0 0 0 0 1 0 0 24674 6098 728 238 1540 0 12122 3126 822 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 9 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.25316456 . . . 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 79 . . INTRON(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000215765 . KIR2DL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0004 0 0 0 0 8.249e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,9,60 +rs377026641 19 55255290 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution synonymous exon GRCh37 55255290 55255290 Chr19(GRCh37):g.55255290C>T 418 418 NM_015868.2:c.418C>T p.Leu140= p.Leu140Leu 4 604938 48 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 7.95657 0 Immunoglobulin subtype rs377026641 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 203170 17130 20580 6432 15936 19000 98484 21046 4562 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3766434|COSM3766434 Thyroid|Liver 0.002677|0.000422 747|2371 transition C T C>T 0.000 -1.651 L Leu CTG 0.404 L Leu TTG 0.127 140 197 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C418T:p.L140L . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L140|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -0.4779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.37 182 ENSG00000243772 . KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.011 rs662465 rs662465 rs662465 rs377026641 1 1538 10 1/0 0,202,255 +rs377026641 (chr19:55255290 C/T) 19 55255290 C T Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs377026641 19 55255290 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution synonymous exon GRCh37 55255290 55255290 Chr19(GRCh37):g.55255290C>T 418 418 NM_014513.2:c.418C>T p.Leu140= p.Leu140Leu 4 604956 48 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 7.95657 0 Immunoglobulin subtype rs377026641 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 203170 17130 20580 6432 15936 19000 98484 21046 4562 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3766434|COSM3766434 Thyroid|Liver 0.002677|0.000422 747|2371 transition C T C>T 0.000 -1.651 L Leu CTG 0.404 L Leu TTG 0.127 140 197 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C418T:p.L140L . . 0.15104167 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 192.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L140|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -0.4779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.37 182 ENSG00000243772 . KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . 0.011 rs662465 rs662465 rs662465 rs377026641 1 1538 10 1/0 0,202,255 +rs200686594 19 55255377 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55255377 55255377 Chr19(GRCh37):g.55255377C>T 505 505 NM_015868.2:c.505C>T p.Arg169Cys p.Arg169Cys 4 604938 135 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 8.72775 0 Immunoglobulin Immunoglobulin subtype rs200686594 yes no Frequency 1 0.000000 0 0.000040 0.000124 0.000000 0.000000 0.000259 0.000000 0.000000 0.000065 0.000000 0.000259 7 2 0 0 4 0 0 1 0 173714 16178 19318 4154 15462 15036 84320 15394 3852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 4 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM321260|COSM321260|COSM321260 Thyroid|Lung|Large intestine 0.001339|0.000419|0.000448 747|2388|2231 transition C T C>T 0.000 -0.117 R Arg CGT 0.082 C Cys TGT 0.448 169 7 4 Platypus -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 126.59 131.30 Deleterious 0.01 II.97 bad 1.464E-3 0.01538 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C505T:p.R169C . . 0.41049382 . . @ 133 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.065 . . 324.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R169C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -1.1874 -1.335 -1.187 c . . . . . 1.832e-05 . . . 0.0004 4.096e-05 0 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.113 @ . . . 0.37 0.44 182 ENSG00000243772 . KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.009 . . 0.436 . . . 0.210 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.161 . . 0.154 . . . . . . 0 0.296 . . . . . . . 0.166 . HET 0.05 . . . . . . . . . . . . . . . . 0.682 -0.523 . 0.070000 . . . . . . 0.005 . . . 0 2.65e-05 0 0 0.0003 0 0 0 0 0.0003 0.0001 0 0 0 0.0003 0 0 . . 0.203 . -0.175 -0.175000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.007 . 0.003 . 0.279 -0.175 0.143 . . . rs77694681 rs200686594 1 1538 10 1/0 0,202,233 +rs200686594 19 55255377 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55255377 55255377 Chr19(GRCh37):g.55255377C>T 505 505 NM_001291695.1:c.505C>T p.Arg169Cys p.Arg169Cys 4 604953 135 3' 92.4295 X.52 0.966596 7.95657 92.4295 X.52 0.966596 7.95657 0 rs200686594 yes no Frequency 1 0.000000 0 0.000040 0.000124 0.000000 0.000000 0.000259 0.000000 0.000000 0.000065 0.000000 0.000259 7 2 0 0 4 0 0 1 0 173714 16178 19318 4154 15462 15036 84320 15394 3852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 4 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM321260|COSM321260|COSM321260 Thyroid|Lung|Large intestine 0.001339|0.000419|0.000448 747|2388|2231 transition C T C>T 0.000 -0.117 R Arg CGT 0.082 C Cys TGT 0.448 169 11 4 Opossum -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C15 130.90 131.30 Tolerated 0.05 II.85 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C505T:p.R169C . . 0.41049382 . . @ 133 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.065 . . 324.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R169C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -1.1874 -1.335 -1.187 c . . . . . 1.832e-05 . . . 0.0004 4.096e-05 0 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.113 @ . . . 0.37 0.44 182 ENSG00000243772 . KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.009 . . 0.436 . . . 0.210 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.161 . . 0.154 . . . . . . 0 0.296 . . . . . . . 0.166 . HET 0.05 . . . . . . . . . . . . . . . . 0.682 -0.523 . 0.070000 . . . . . . 0.005 . . . 0 2.65e-05 0 0 0.0003 0 0 0 0 0.0003 0.0001 0 0 0 0.0003 0 0 . . 0.203 . -0.175 -0.175000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.007 . 0.003 . 0.279 -0.175 0.143 . . . rs77694681 rs200686594 1 1538 10 1/0 0,202,233 +rs200686594 19 55255377 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution missense exon GRCh37 55255377 55255377 Chr19(GRCh37):g.55255377C>T 505 505 NM_014513.2:c.505C>T p.Arg169Cys p.Arg169Cys 4 604956 135 3' 92.4295 X.52 0.966596 8.72775 92.4295 X.52 0.966596 8.72775 0 Immunoglobulin Immunoglobulin subtype rs200686594 yes no Frequency 1 0.000000 0 0.000040 0.000124 0.000000 0.000000 0.000259 0.000000 0.000000 0.000065 0.000000 0.000259 7 2 0 0 4 0 0 1 0 173714 16178 19318 4154 15462 15036 84320 15394 3852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 2 0 0 4 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM321260|COSM321260|COSM321260 Thyroid|Lung|Large intestine 0.001339|0.000419|0.000448 747|2388|2231 transition C T C>T 0.000 -0.117 R Arg CGT 0.082 C Cys TGT 0.448 169 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 255 PASS . . . . . . . . . . . . . KIR2DL3:NM_015868:exon4:c.C505T:p.R169C . . 0.41049382 . . @ 133 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.199 . @ . . . . . 1 0.065 . . 324.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R169C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.4) . . . . . . . -1.1874 -1.335 -1.187 c . . . . . 1.832e-05 . . . 0.0004 4.096e-05 0 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.113 @ . . . 0.37 0.44 182 ENSG00000243772 . KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.013 0.001 . . 37 . 0.009 . . 0.436 . . . 0.210 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.161 . . 0.154 . . . . . . 0 0.296 . . . . . . . 0.166 . HET 0.05 . . . . . . . . . . . . . . . . 0.682 -0.523 . 0.070000 . . . . . . 0.005 . . . 0 2.65e-05 0 0 0.0003 0 0 0 0 0.0003 0.0001 0 0 0 0.0003 0 0 . . 0.203 . -0.175 -0.175000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.007 . 0.003 . 0.279 -0.175 0.143 . . . rs77694681 rs200686594 1 1538 10 1/0 0,202,233 +rs76449138 19 55263830 A T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263830 55263830 Chr19(GRCh37):g.55263830A>T 885 885 NM_015868.2:c.885A>T p.Glu295Asp p.Glu295Asp 8 604938 12 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.984673 12.446 0.000844376 rs76449138 no no 0 0.000000 0 transversion A T A>T 0.000 -0.602 E Glu GAA 0.417 D Asp GAT 0.461 295 7 2 Macaque 2 2 2 0.92 I.38 12.III 13 83 54 45 C0 353.86 0.00 Tolerated 0.48 III.43 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.A885T:p.E295D KIR2DL3:uc002qgx.3:exon8:c.A885T:p.E295D KIR2DL3:NM_015868:exon8:c.A885T:p.E295D . . 0.4528302 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.145 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E295D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.1421 -1.350 -1.142 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.071 @ . . . 0.17 0.2 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.008 . . 0.472 . . . 0.410 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.495 . . 0.676 . . . . . . 0 0.512 . . . . . 0.090 . 0.306 . HET 0.06 . . . . . . . . . . . . . 4.0084 . ENST00000342376 1.VI -1.94 . 0.010000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.713 -0.713000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.043 0.015 . 0.237 . 0.297 -0.713 0.804 . . . rs76449138 rs76449138 1 1538 10 1/0 0,251,255 +rs76449138 19 55263830 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55263830 55263830 Chr19(GRCh37):g.55263830A>T 874-55 874-55 NM_001291695.1:c.874-55A>T p.? p.? 8 7 604953 -55 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39416 0 rs76449138 no no 0 0.000000 0 transversion A T A>T 0.000 -0.602 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.A885T:p.E295D KIR2DL3:uc002qgx.3:exon8:c.A885T:p.E295D KIR2DL3:NM_015868:exon8:c.A885T:p.E295D . . 0.4528302 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.145 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E295D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.1421 -1.350 -1.142 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.071 @ . . . 0.17 0.2 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.008 . . 0.472 . . . 0.410 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.495 . . 0.676 . . . . . . 0 0.512 . . . . . 0.090 . 0.306 . HET 0.06 . . . . . . . . . . . . . 4.0084 . ENST00000342376 1.VI -1.94 . 0.010000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.713 -0.713000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.043 0.015 . 0.237 . 0.297 -0.713 0.804 . . . rs76449138 rs76449138 1 1538 10 1/0 0,251,255 +rs76449138 19 55263830 A T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution missense exon GRCh37 55263830 55263830 Chr19(GRCh37):g.55263830A>T 885 885 NM_014513.2:c.885A>T p.Glu295Asp p.Glu295Asp 8 604956 12 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.98317 XI.62 0.0016275 rs76449138 no no 0 0.000000 0 transversion A T A>T 0.000 -0.602 E Glu GAA 0.417 D Asp GAT 0.461 295 2 2 2 0.92 I.38 12.III 13 83 54 45 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.A885T:p.E295D KIR2DL3:uc002qgx.3:exon8:c.A885T:p.E295D KIR2DL3:NM_015868:exon8:c.A885T:p.E295D . . 0.4528302 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.030 . @ . . . . . 1 0.145 . . 106.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaT|E295D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.1421 -1.350 -1.142 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.071 @ . . . 0.17 0.2 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.008 . . 0.472 . . . 0.410 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.495 . . 0.676 . . . . . . 0 0.512 . . . . . 0.090 . 0.306 . HET 0.06 . . . . . . . . . . . . . 4.0084 . ENST00000342376 1.VI -1.94 . 0.010000 . . . . . . 0.020 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.713 -0.713000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.043 0.015 . 0.237 . 0.297 -0.713 0.804 . . . rs76449138 rs76449138 1 1538 10 1/0 0,251,255 +rs77570590 19 55263864 A G - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263864 55263864 Chr19(GRCh37):g.55263864A>G 919 919 NM_015868.2:c.919A>G p.Asn307Asp p.Asn307Asp 8 604938 46 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.21 0 rs77570590 yes no Frequency/1000G 2 0.000000 0 0.015974 0.036300 0.015300 0.005000 0.006000 0.008600 0.000741 0.003838 0.000626 0.000115 0.000054 0.000359 0.000523 0.000495 0.000348 0.003838 185 80 20 1 1 9 60 12 2 249774 20844 31968 8720 18446 25064 114742 24248 5742 0.000296 0.002111 0.000188 0.000000 0.000000 0.000160 0.000174 0.000000 0.000000 37 22 3 0 0 2 10 0 0 111 36 14 1 1 5 40 12 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7994 4026 12020 26 54 80 0.0032419 0.0132353 0.00661157 0.0032419 0.0132353 0.00661157 218 COSM5000192 Pancreas 0.000569 1758 transition A G A>G 0.000 -0.360 N Asn AAT 0.464 D Asp GAT 0.461 307 7 2 Cow 2 1 2 I.33 I.38 11.VI 13 56 54 23 C0 353.86 0.00 Tolerated 0.87 III.43 unknown 0.0 0.0 255 PASS . . . . . 0.036 0.016 0.0086 0.005 0.006 0.015 ENSG00000243772:ENST00000342376:exon8:c.A919G:p.N307D KIR2DL3:uc002qgx.3:exon8:c.A919G:p.N307D KIR2DL3:NM_015868:exon8:c.A919G:p.N307D . . 0.4032258 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.069 . . 124.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N307D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) 0.013 0.0066 0.0032 0.013 0.0066 0.0032 . -1.7395 -1.737 -1.740 c . . . . . 5.028e-03 . . . 0.0086 0.0022 0.0023 0 0.0025 0.0014 0.0031 0.0007 0.0092 0.0019 0.0022 0.0001 0.0018 0.0012 0.0032 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.131 0.0160 . . . 0.24 0.19 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.001 . . 0.331 . . . 0.007 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.088 . 0.001 . HET 1 . . . . . . . . . . . . . III.32 0.019297 ENST00000342376 1.VI -0.0516 . 1.000000 . . . . 0.006612 . 0.001 . . . 0.0058 0.0008 0.0006 0.0001 5.91e-05 0.0006 0.0006 0.0004 0.0004 0.0001 7.53e-05 0 0 0 0 7.828e-05 0 . . 0.133 . -0.397 -0.397000 . . 1.000000 . . 1.0E-255 0.006 0.172 . 0.090 0.019 . 0.260 . 0.104 -0.397 -0.196 0.013 . . rs77570590 rs77570590 1 1538 10 1/0 0,242,255 +rs77570590 19 55263864 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution intron GRCh37 55263864 55263864 Chr19(GRCh37):g.55263864A>G 874-21 874-21 NM_001291695.1:c.874-21A>G p.? p.? 8 7 604953 -21 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.475827 0 -0.0506703 55263864 -70.6016 rs77570590 yes no Frequency/1000G 2 0.000000 0 0.015974 0.036300 0.015300 0.005000 0.006000 0.008600 0.000741 0.003838 0.000626 0.000115 0.000054 0.000359 0.000523 0.000495 0.000348 0.003838 185 80 20 1 1 9 60 12 2 249774 20844 31968 8720 18446 25064 114742 24248 5742 0.000296 0.002111 0.000188 0.000000 0.000000 0.000160 0.000174 0.000000 0.000000 37 22 3 0 0 2 10 0 0 111 36 14 1 1 5 40 12 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7994 4026 12020 26 54 80 0.0032419 0.0132353 0.00661157 0.0032419 0.0132353 0.00661157 218 COSM5000192 Pancreas 0.000569 1758 transition A G A>G 0.000 -0.360 255 PASS . . . . . 0.036 0.016 0.0086 0.005 0.006 0.015 ENSG00000243772:ENST00000342376:exon8:c.A919G:p.N307D KIR2DL3:uc002qgx.3:exon8:c.A919G:p.N307D KIR2DL3:NM_015868:exon8:c.A919G:p.N307D . . 0.4032258 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.008 . @ . . . . . 1 0.069 . . 124.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Gat|N307D|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) 0.013 0.0066 0.0032 0.013 0.0066 0.0032 . -1.7395 -1.737 -1.740 c . . . . . 5.028e-03 . . . 0.0086 0.0022 0.0023 0 0.0025 0.0014 0.0031 0.0007 0.0092 0.0019 0.0022 0.0001 0.0018 0.0012 0.0032 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.131 0.0160 . . . 0.24 0.19 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.001 . . 0.331 . . . 0.007 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.010 . . . . . 0.088 . 0.001 . HET 1 . . . . . . . . . . . . . III.32 0.019297 ENST00000342376 1.VI -0.0516 . 1.000000 . . . . 0.006612 . 0.001 . . . 0.0058 0.0008 0.0006 0.0001 5.91e-05 0.0006 0.0006 0.0004 0.0004 0.0001 7.53e-05 0 0 0 0 7.828e-05 0 . . 0.133 . -0.397 -0.397000 . . 1.000000 . . 1.0E-255 0.006 0.172 . 0.090 0.019 . 0.260 . 0.104 -0.397 -0.196 0.013 . . rs77570590 rs77570590 1 1538 10 1/0 0,242,255 +rs77570590 (chr19:55263864 A/G) 19 55263864 A G Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs369659451 19 55263886 G C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263886 55263886 Chr19(GRCh37):g.55263886G>C 941 941 NM_015868.2:c.941G>C p.Arg314Thr p.Arg314Thr 8 604938 68 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.97 0 rs369659451 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 223144 13686 31188 8482 16910 25052 101930 21012 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 161 Exomes COSM4287224|COSM4287224 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000283 2231|3530 transversion G C G>C 0.000 -2.861 R Arg AGA 0.205 T Thr ACA 0.280 314 7 1 -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 353.86 0.00 Tolerated 0.57 III.45 unknown 0.0 0.0 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G941C:p.R314T KIR2DL3:uc002qgx.3:exon8:c.G941C:p.R314T KIR2DL3:NM_015868:exon8:c.G941C:p.R314T . . 0.3448276 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.113 . @ . . . . . 1 0.044 . . 145.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R314T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.8358 -2.002 -1.836 c . . . . . 8.391e-06 . . . . . . . . . . . 0 1.041e-05 0 0 0 2.019e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.067 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.396 . . . 0.547 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.258 . . 0.266 . . . . . . 0 0.632 . . . . . 0.106 . 0.071 . HET 0.09 . . . . . . . . . . . . . IV.01 . ENST00000342376 1.VI -2.12 . 0.060000 . . . . . . 0.015 . . . 0 4.481e-06 0 0 0 0 9.811e-06 0 0 . . . . . . . . . . 0.133 . -2.428 -2.428000 . . 0.060000 . . 1.0E-255 0.000 0.063 . 0.016 0.005 . 0.010 . 0.006 -2.428 0.697 . . . rs369659451 rs369659451 1 1538 10 1/0 0,232,255 +rs369659451 19 55263886 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55263886 55263886 Chr19(GRCh37):g.55263886G>C 875 875 NM_001291695.1:c.875G>C p.Arg292Thr p.Arg292Thr 8 604953 2 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.99763 0.526046 2.65318 0.000825091 rs369659451 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 223144 13686 31188 8482 16910 25052 101930 21012 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 161 Exomes COSM4287224|COSM4287224 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000283 2231|3530 transversion G C G>C 0.000 -2.861 R Arg AGA 0.205 T Thr ACA 0.280 292 11 1 -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 353.86 0.00 Tolerated 0.33 II.88 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G941C:p.R314T KIR2DL3:uc002qgx.3:exon8:c.G941C:p.R314T KIR2DL3:NM_015868:exon8:c.G941C:p.R314T . . 0.3448276 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.113 . @ . . . . . 1 0.044 . . 145.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R314T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.8358 -2.002 -1.836 c . . . . . 8.391e-06 . . . . . . . . . . . 0 1.041e-05 0 0 0 2.019e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.067 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.396 . . . 0.547 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.258 . . 0.266 . . . . . . 0 0.632 . . . . . 0.106 . 0.071 . HET 0.09 . . . . . . . . . . . . . IV.01 . ENST00000342376 1.VI -2.12 . 0.060000 . . . . . . 0.015 . . . 0 4.481e-06 0 0 0 0 9.811e-06 0 0 . . . . . . . . . . 0.133 . -2.428 -2.428000 . . 0.060000 . . 1.0E-255 0.000 0.063 . 0.016 0.005 . 0.010 . 0.006 -2.428 0.697 . . . rs369659451 rs369659451 1 1538 10 1/0 0,232,255 +rs369659451 19 55263886 G C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution 3'UTR GRCh37 55263886 55263886 Chr19(GRCh37):g.55263886G>C *26 *26 NM_014513.2:c.*26G>C p.? p.? 8 604956 68 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.978393 11.V 0 rs369659451 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 223144 13686 31188 8482 16910 25052 101930 21012 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 161 Exomes COSM4287224|COSM4287224 Large intestine|Haematopoietic and lymphoid tissue 0.000448|0.000283 2231|3530 transversion G C G>C 0.000 -2.861 255 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G941C:p.R314T KIR2DL3:uc002qgx.3:exon8:c.G941C:p.R314T KIR2DL3:NM_015868:exon8:c.G941C:p.R314T . . 0.3448276 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.113 . @ . . . . . 1 0.044 . . 145.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R314T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.8358 -2.002 -1.836 c . . . . . 8.391e-06 . . . . . . . . . . . 0 1.041e-05 0 0 0 2.019e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.067 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.001 0.083 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.396 . . . 0.547 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.416 . . 0 0 0 0 0 0 . 0.258 . . 0.266 . . . . . . 0 0.632 . . . . . 0.106 . 0.071 . HET 0.09 . . . . . . . . . . . . . IV.01 . ENST00000342376 1.VI -2.12 . 0.060000 . . . . . . 0.015 . . . 0 4.481e-06 0 0 0 0 9.811e-06 0 0 . . . . . . . . . . 0.133 . -2.428 -2.428000 . . 0.060000 . . 1.0E-255 0.000 0.063 . 0.016 0.005 . 0.010 . 0.006 -2.428 0.697 . . . rs369659451 rs369659451 1 1538 10 1/0 0,232,255 +rs372921221 19 55263897 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263897 55263897 Chr19(GRCh37):g.55263897C>T 952 952 NM_015868.2:c.952C>T p.Arg318Cys p.Arg318Cys 8 604938 79 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XI.06 0 Cryptic Acceptor Weakly Activated 55263909 5.32302 0.783108 79.7396 5.20889 0.836743 83.0542 rs372921221 no no 0 0.000000 0 COSM4287225 Large intestine 0.000896 2231 transition C T C>T 0.000 -2.054 R Arg CGC 0.190 C Cys TGC 0.552 318 7 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.15 III.45 unknown 0.0 0.0 248 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C952T:p.R318C KIR2DL3:uc002qgx.3:exon8:c.C952T:p.R318C KIR2DL3:NM_015868:exon8:c.C952T:p.R318C . . 0.30075186 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.194 . @ . . . . . 1 0.114 . . 133.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R318C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9079 -2.030 -1.908 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.416 . . . 0.413 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.410 . . 0 0 0 0 0 0 . 0.126 . . 0.080 . . . . . . 0 0.491 . . . . . 0.094 . 0.203 . HET 0.05 . . . . . . . . . . . . . 4.0914 . ENST00000342376 0.909 -1.82 . 0.120000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.219 -2.219000 . . 0.120000 . . 1.0E-248 0.000 0.063 . 0.016 0.007 . 0.089 . 0.010 -2.219 -0.521 . . . rs372921221 rs372921221 1 1538 10 1/0 0,232,255 +rs372921221 19 55263897 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55263897 55263897 Chr19(GRCh37):g.55263897C>T 886 886 NM_001291695.1:c.886C>T p.Arg296Cys p.Arg296Cys 8 604953 13 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.527145 0 -0.0201851 rs372921221 no no 0 0.000000 0 COSM4287225 Large intestine 0.000896 2231 transition C T C>T 0.000 -2.054 R Arg CGC 0.190 C Cys TGC 0.552 296 11 2 Orangutan -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.21 II.96 248 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C952T:p.R318C KIR2DL3:uc002qgx.3:exon8:c.C952T:p.R318C KIR2DL3:NM_015868:exon8:c.C952T:p.R318C . . 0.30075186 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.194 . @ . . . . . 1 0.114 . . 133.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R318C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9079 -2.030 -1.908 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.416 . . . 0.413 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.410 . . 0 0 0 0 0 0 . 0.126 . . 0.080 . . . . . . 0 0.491 . . . . . 0.094 . 0.203 . HET 0.05 . . . . . . . . . . . . . 4.0914 . ENST00000342376 0.909 -1.82 . 0.120000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.219 -2.219000 . . 0.120000 . . 1.0E-248 0.000 0.063 . 0.016 0.007 . 0.089 . 0.010 -2.219 -0.521 . . . rs372921221 rs372921221 1 1538 10 1/0 0,232,255 +rs372921221 19 55263897 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution 3'UTR GRCh37 55263897 55263897 Chr19(GRCh37):g.55263897C>T *37 *37 NM_014513.2:c.*37C>T p.? p.? 8 604956 79 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.978393 X.63 0 rs372921221 no no 0 0.000000 0 COSM4287225 Large intestine 0.000896 2231 transition C T C>T 0.000 -2.054 248 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C952T:p.R318C KIR2DL3:uc002qgx.3:exon8:c.C952T:p.R318C KIR2DL3:NM_015868:exon8:c.C952T:p.R318C . . 0.30075186 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.194 . @ . . . . . 1 0.114 . . 133.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R318C|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9079 -2.030 -1.908 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.416 . . . 0.413 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.410 . . 0 0 0 0 0 0 . 0.126 . . 0.080 . . . . . . 0 0.491 . . . . . 0.094 . 0.203 . HET 0.05 . . . . . . . . . . . . . 4.0914 . ENST00000342376 0.909 -1.82 . 0.120000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.219 -2.219000 . . 0.120000 . . 1.0E-248 0.000 0.063 . 0.016 0.007 . 0.089 . 0.010 -2.219 -0.521 . . . rs372921221 rs372921221 1 1538 10 1/0 0,232,255 +rs1049267 19 55263898 G C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263898 55263898 Chr19(GRCh37):g.55263898G>C 953 953 NM_015868.2:c.953G>C p.Arg318Pro p.Arg318Pro 8 604938 80 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.73 0 Cryptic Acceptor Strongly Activated 55263909 5.32302 0.783108 79.7396 6.21474 0.893783 79.7396 rs1049267 yes no Frequency/1000G 2 0.000000 0 COSM4287226 Large intestine 0.000448 2231 transversion G C G>C 0.000 -2.619 R Arg CGC 0.190 P Pro CCC 0.328 318 7 1 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Tolerated 0.36 III.45 unknown 0.0 0.0 254 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G953C:p.R318P KIR2DL3:uc002qgx.3:exon8:c.G953C:p.R318P KIR2DL3:NM_015868:exon8:c.G953C:p.R318P . . 0.31851852 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.038 . . 135.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R318P|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9708 -2.088 -1.971 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 0.2624 . . . 0.2 0.17 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.065 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.003 . . 0.454 . . . 0.090 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.238 . . 0 0 0 0 0 0 . 0.352 . . 0.425 . . . . . . 0 0.303 . . . . . 0.315 . 0.080 . HET 0.1 . . . . . . . . . . . . . VIII.11 . ENST00000342376 0.909 -1.82 . 0.100000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.805 -2.805000 . . 0.100000 . . 1.0000000000000001E-254 0.000 0.063 . 0.016 0.007 . 0.088 . 0.012 -2.805 -0.180 . . . . . 1 1538 10 1/0 0,233,255 +rs1049267 19 55263898 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55263898 55263898 Chr19(GRCh37):g.55263898G>C 887 887 NM_001291695.1:c.887G>C p.Arg296Pro p.Arg296Pro 8 604953 14 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.543585 0 -0.010419 Cryptic Acceptor Strongly Activated 55263911 0.000639 72.1951 0.266715 0.001189 72.4856 rs1049267 yes no Frequency/1000G 2 0.000000 0 COSM4287226 Large intestine 0.000448 2231 transversion G C G>C 0.000 -2.619 R Arg CGC 0.190 P Pro CCC 0.328 296 11 2 Orangutan -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Tolerated 0.33 II.96 254 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G953C:p.R318P KIR2DL3:uc002qgx.3:exon8:c.G953C:p.R318P KIR2DL3:NM_015868:exon8:c.G953C:p.R318P . . 0.31851852 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.014 . @ . . . . . 1 0.038 . . 135.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R318P|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.9708 -2.088 -1.971 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.074 0.2624 . . . 0.2 0.17 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.065 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.003 . . 0.454 . . . 0.090 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.238 . . 0 0 0 0 0 0 . 0.352 . . 0.425 . . . . . . 0 0.303 . . . . . 0.315 . 0.080 . HET 0.1 . . . . . . . . . . . . . VIII.11 . ENST00000342376 0.909 -1.82 . 0.100000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.805 -2.805000 . . 0.100000 . . 1.0000000000000001E-254 0.000 0.063 . 0.016 0.007 . 0.088 . 0.012 -2.805 -0.180 . . . . . 1 1538 10 1/0 0,233,255 +rs1049267 (chr19:55263898 G/C) 19 55263898 G C Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs879022787 19 55263923 C T - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution synonymous exon GRCh37 55263923 55263923 Chr19(GRCh37):g.55263923C>T 978 978 NM_015868.2:c.978C>T p.Pro326= p.Pro326Pro 8 604938 105 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.24 0 rs879022787 no no 0 0.000000 0 COSM5482910 Large intestine 0.000448 2231 transition C T C>T 0.000 -0.602 P Pro CCC 0.328 P Pro CCT 0.283 326 245 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C978T:p.P326P KIR2DL3:uc002qgx.3:exon8:c.C978T:p.P326P KIR2DL3:NM_015868:exon8:c.C978T:p.P326P . . 0.29007635 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P326|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -0.4859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs879022787 19 55263923 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution synonymous exon GRCh37 55263923 55263923 Chr19(GRCh37):g.55263923C>T 912 912 NM_001291695.1:c.912C>T p.Pro304= p.Pro304Pro 8 604953 39 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.20178 0 rs879022787 no no 0 0.000000 0 COSM5482910 Large intestine 0.000448 2231 transition C T C>T 0.000 -0.602 P Pro CCC 0.328 P Pro CCT 0.283 304 245 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C978T:p.P326P KIR2DL3:uc002qgx.3:exon8:c.C978T:p.P326P KIR2DL3:NM_015868:exon8:c.C978T:p.P326P . . 0.29007635 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P326|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -0.4859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs879022787 19 55263923 C T - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution 3'UTR GRCh37 55263923 55263923 Chr19(GRCh37):g.55263923C>T *63 *63 NM_014513.2:c.*63C>T p.? p.? 8 604956 105 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.978393 XI.26 0 rs879022787 no no 0 0.000000 0 COSM5482910 Large intestine 0.000448 2231 transition C T C>T 0.000 -0.602 245 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.C978T:p.P326P KIR2DL3:uc002qgx.3:exon8:c.C978T:p.P326P KIR2DL3:NM_015868:exon8:c.C978T:p.P326P . . 0.29007635 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 131.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P326|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -0.4859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs376492438 19 55263934 T C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263934 55263934 Chr19(GRCh37):g.55263934T>C 989 989 NM_015868.2:c.989T>C p.Ile330Thr p.Ile330Thr 8 604938 116 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.24 0 rs376492438 yes no Frequency/1000G 2 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000045 0.000221 0.000064 0.000000 0.000059 0.000000 0.000039 0.000000 0.000000 0.000221 10 3 2 0 1 0 4 0 0 223026 13578 31164 8480 16914 25066 101926 21012 4886 0.200000 0.000000 0.500000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 2 0 1 0 0 0 1 0 0 6 3 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 141 Exomes 8010 4009 12019 0 1 1 0 0.000249377 8.31947e-05 0 0.000249377 8.31947e-05 210 transition T C T>C 0.000 -0.602 I Ile ATC 0.481 T Thr ACC 0.361 330 7 1 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 1 III.45 unknown 0.0 0.0 215 PASS . . . . . 0.0023 0.0006 . . . . ENSG00000243772:ENST00000342376:exon8:c.T989C:p.I330T KIR2DL3:uc002qgx.3:exon8:c.T989C:p.I330T KIR2DL3:NM_015868:exon8:c.T989C:p.I330T . . 0.1983471 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.006 . @ . . . . . 1 0.024 . . 121.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I330T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) 0.0002 0.0001 . 0.0002 0.0001 . . -2.0026 -1.943 -2.003 c . . . . . 5.044e-05 . . . 0.0002 6.174e-05 0 0 0 7.93e-05 0 0 0.0002 4.17e-05 0 0 0 4.042e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.004 . . exonic exonic exonic . . 0.114 0.0006 . . . 0.21 0.22 182 ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.000 . . 0.435 . . . 0.001 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.041 . 0.008 . HET 1 . . . . . . . . . . . . . II.85 2.93E-4 ENST00000342376 0.909 -0.501 . 1.000000 . . . . 0.000083 . 0.001 . . . 0.0002 4.484e-05 6.418e-05 0 5.912e-05 0 3.924e-05 0 0 . . . . . . . . . . 0.133 . -0.664 -0.664000 . . 1.000000 . . 1.0E-215 0.003 0.159 . 0.062 0.004 . 0.091 . 0.060 -0.664 -1.452 0.0002 . . rs376492438 rs376492438 1 1538 10 1/0 0,227,255 +rs376492438 (chr19:55263934 T/C) 19 55263934 T C Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs376492438 (chr19:55263934 T/C) 19 55263934 T C Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs781524573 19 55263937 T C - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263937 55263937 Chr19(GRCh37):g.55263937T>C 992 992 NM_015868.2:c.992T>C p.Ile331Thr p.Ile331Thr 8 604938 119 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.24 0 rs781524573 yes no Frequency 1 0.000000 0 COSM4609963 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.521 I Ile ATC 0.481 T Thr ACC 0.361 331 7 1 -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.68 III.43 unknown 0.0 0.0 216 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.T992C:p.I331T KIR2DL3:uc002qgx.3:exon8:c.T992C:p.I331T KIR2DL3:NM_015868:exon8:c.T992C:p.I331T . . 0.20338982 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.014 . . 118.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I331T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.7886 -1.871 -1.789 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.122 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.003 . . 0.423 . . . 0.273 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.036 . . . . . 0.059 . 0.014 . HET 0.44 . . . . . . . . . . . . . 3.0965 . ENST00000342376 0.909 -0.268 . 0.040000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.552 -0.552000 . . 0.040000 . . 1.0E-216 0.000 0.063 . 0.016 0.007 . 0.052 . 0.001 -0.552 -1.708 . . . . . 1 1538 10 1/0 0,229,255 +rs781524573 19 55263937 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution missense exon GRCh37 55263937 55263937 Chr19(GRCh37):g.55263937T>C 926 926 NM_001291695.1:c.926T>C p.Ser309Thr p.Ser309Thr 8 604953 53 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.54618 0 Cryptic Acceptor Strongly Activated 55263949 0.003276 0.41877 0.015835 63.6552 rs781524573 yes no Frequency 1 0.000000 0 COSM4609963 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.521 S Ser AGC 0.243 T Thr ACC 0.361 309 11 2 Macaque 2 1 2 I.42 0.71 9.II 8.VI 32 61 58 C0 353.86 0.00 Tolerated 0.1 II.91 216 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.T992C:p.I331T KIR2DL3:uc002qgx.3:exon8:c.T992C:p.I331T KIR2DL3:NM_015868:exon8:c.T992C:p.I331T . . 0.20338982 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.014 . . 118.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I331T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.7886 -1.871 -1.789 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.122 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.003 . . 0.423 . . . 0.273 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.036 . . . . . 0.059 . 0.014 . HET 0.44 . . . . . . . . . . . . . 3.0965 . ENST00000342376 0.909 -0.268 . 0.040000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.552 -0.552000 . . 0.040000 . . 1.0E-216 0.000 0.063 . 0.016 0.007 . 0.052 . 0.001 -0.552 -1.708 . . . . . 1 1538 10 1/0 0,229,255 +rs781524573 19 55263937 T C - KIR2DS5 6337 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 NM_014513.2 1 1600 915 NP_055328.2 Q14953 substitution 3'UTR GRCh37 55263937 55263937 Chr19(GRCh37):g.55263937T>C *77 *77 NM_014513.2:c.*77T>C p.? p.? 8 604956 119 3' 90.5732 8.98866 0.978393 XI.26 90.5732 8.98866 0.978393 XI.26 0 Cryptic Acceptor Strongly Activated 55263949 0.004626 0.41877 0.022536 63.6552 rs781524573 yes no Frequency 1 0.000000 0 COSM4609963 Haematopoietic and lymphoid tissue 0.000283 3530 transition T C T>C 0.000 -0.521 216 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.T992C:p.I331T KIR2DL3:uc002qgx.3:exon8:c.T992C:p.I331T KIR2DL3:NM_015868:exon8:c.T992C:p.I331T . . 0.20338982 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.014 . . 118.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I331T|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.7886 -1.871 -1.789 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.122 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.003 0.001 . . 37 . 0.003 . . 0.423 . . . 0.273 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.067 . . 0.093 . . . . . . 0 0.036 . . . . . 0.059 . 0.014 . HET 0.44 . . . . . . . . . . . . . 3.0965 . ENST00000342376 0.909 -0.268 . 0.040000 . . . . . . 0.011 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.552 -0.552000 . . 0.040000 . . 1.0E-216 0.000 0.063 . 0.016 0.007 . 0.052 . 0.001 -0.552 -1.708 . . . . . 1 1538 10 1/0 0,229,255 +rs879086624 19 55263939 G A - KIR2DL3 6331 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NM_015868.2 1 1596 1026 NP_056952.2 P43628 substitution missense exon GRCh37 55263939 55263939 Chr19(GRCh37):g.55263939G>A 994 994 NM_015868.2:c.994G>A p.Val332Met p.Val332Met 8 604938 121 3' 90.5732 9.36118 0.982185 XII.24 90.5732 9.36118 0.982185 XII.24 0 rs879086624 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223108 13578 31180 8480 16914 25074 101982 21014 4886 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 141 Exomes COSM4609964 Haematopoietic and lymphoid tissue 0.000283 3530 transition G A G>A 0.000 -0.521 V Val GTG 0.468 M Met ATG 1.000 332 7 4 Cow 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Deleterious 0 III.43 unknown 0.0 0.0 195 PASS . . . . . . . . . . . ENSG00000243772:ENST00000342376:exon8:c.G994A:p.V332M KIR2DL3:uc002qgx.3:exon8:c.G994A:p.V332M KIR2DL3:NM_015868:exon8:c.G994A:p.V332M . . 0.14782609 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.076 . @ . . . . . 1 0.116 . . 115.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V332M|KIR2DL3|mRNA|CODING|NM_015868|NM_015868.ex.8) . . . . . . . -1.3007 -1.507 -1.301 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.119 @ . . . . . . ENSG00000243772 KIR2DL3 KIR2DL3 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.010 . . 0.498 . . . 0.479 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.289 . . 0 0 0 0 0 0 . 0.689 . . 0.656 . . . . . . 0 0.433 . . . . . 0.142 . 0.095 . LowAF 0.12 . . . . . . . . . . . . . 5.1336 . ENST00000342376 0.909 -0.364 . 0.050000 . . . . . . 0.015 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.528 -0.528000 . . 0.050000 . . 9.999999999999999E-196 0.000 0.063 . 0.016 0.010 . 0.035 . 0.013 -0.528 0.589 . . . . . 1 1538 10 1/0 0,225,255 +rs879086624 (chr19:55263939 G/A) 19 55263939 G A Transcript NM_001291695.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DS2 +rs879086624 (chr19:55263939 G/A) 19 55263939 G A Transcript NM_014513.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DS5 +rs62121563 19 55266572 G T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55266572 55266572 Chr19(GRCh37):g.55266572G>T *2544 *2544 NM_001291695.1:c.*2544G>T p.? p.? 8 604953 2688 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55266566 0.110953 65.332 1.47859 0.463419 70.3508 rs62121563 no no 0 0.000000 0 0.001865 0.006639 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.006639 54 54 0 0 0 0 0 0 0 28958 8134 788 276 1580 0 13872 3384 924 0.055556 0.055556 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 3 3 0 0 0 0 0 0 0 48 48 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transversion G T G>T 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 80 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 192.0 . . DOWNSTREAM(MODIFIER||||KIR2DL3|mRNA|CODING|NM_015868|) . . . . . . . -0.2571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . @ . . . 0.12 0.11 182 . . . . . dist\x3d2068\x3bdist\x3d14302 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0066 0.0019 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62121563 rs62121563 rs62121563 rs62121563 1 1538 10 1/0 0,228,255 +rs560926190 19 55270099 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55270099 55270099 Chr19(GRCh37):g.55270099C>G *6071 *6071 NM_001291695.1:c.*6071C>G p.? p.? 8 604953 6215 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs560926190 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.000000 0.001000 0.002000 0.000000 0.002658 0.000981 0.003759 0.000000 0.000647 0.000000 0.003027 0.004723 0.007592 0.004723 77 8 3 0 1 0 42 16 7 28964 8158 798 278 1546 0 13874 3388 922 0.038961 0.125000 0.333333 0.000000 0.000000 0.000000 0.023810 0.000000 0.000000 3 1 1 0 0 0 1 0 0 71 6 1 0 1 0 40 16 7 0 0 0 0 0 0 0 0 0 PASS 36 Genomes transversion C G C>G 0.000 0.125 181 PASS . . . . . . 0.0006 . 0.001 0.002 . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 69.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . 0.0006 . . . 0.21 0.11 182 ENSG00000242473 . . . . dist\x3d5595\x3bdist\x3d10775 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0027 0.0038 0 0.0006 0.0047 0.0030 0.0076 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs78036355 rs78036355 1 1538 10 1/0 0,243,255 +rs72487182 19 55271856 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55271856 55271856 Chr19(GRCh37):g.55271856G>C *7828 *7828 NM_001291695.1:c.*7828G>C p.? p.? 8 604953 7972 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs72487182 yes no Frequency/1000G 2 0.000000 0 transversion G C G>C 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.76086956 . . @ 175 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 230.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . @ . . . 0.1 0.19 182 . . . . . dist\x3d7352\x3bdist\x3d9018 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1743326 rs1743326 rs1743326 rs147016424 1 1538 10 1/0 0,217,212 +rs1654629 19 55271858 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55271858 55271858 Chr19(GRCh37):g.55271858A>G *7830 *7830 NM_001291695.1:c.*7830A>G p.? p.? 8 604953 7974 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs1654629 no no 0 0.000000 0 transition A G A>G 0.000 -1.409 255 PASS . . . . . . . . . . . . . . . . 0.7593361 . . @ 183 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 241.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . @ . . . 0.09 0.09 182 . . . . . dist\x3d7354\x3bdist\x3d9016 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1654629 rs1654629 rs1654629 rs1654629 1 1538 10 1/0 0,216,211 +rs371985010 19 55271931 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55271931 55271931 Chr19(GRCh37):g.55271931C>T *7903 *7903 NM_001291695.1:c.*7903C>T p.? p.? 8 604953 8047 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs371985010 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 transition C T C>T 0.000 -1.247 213 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.19186047 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 344.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . 0.0002 . . . 0.2 0.24 182 ENSG00000242473 . . . . dist\x3d7427\x3bdist\x3d8943 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs662465 rs662465 rs662465 rs371985010 1 1538 10 1/0 0,181,255 +rs200728766 19 55272002 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55272002 55272002 Chr19(GRCh37):g.55272002G>A *7974 *7974 NM_001291695.1:c.*7974G>A p.? p.? 8 604953 8118 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200728766 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000103 0.000121 0.001259 0.000000 0.000000 0.000000 0.000072 0.000000 0.000000 0.001259 3 1 1 0 0 0 1 0 0 29226 8294 794 276 1584 0 13972 3380 926 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transition G A G>A 0.000 -1.893 225 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.2248996 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 249.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . 0.0002 . . . 0.12 0.14 182 ENSG00000242473 . . . . dist\x3d7498\x3bdist\x3d8872 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0.0013 0 0 0 7.157e-05 0 . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . . . rs200728766 rs200728766 1 1538 10 1/0 0,200,255 +rs644822 19 55272018 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55272018 55272018 Chr19(GRCh37):g.55272018C>T *7990 *7990 NM_001291695.1:c.*7990C>T p.? p.? 8 604953 8134 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs644822 yes no Frequency 1 0.000000 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000072 0.000000 0.000000 0.000072 1 0 0 0 0 0 1 0 0 29242 8276 802 278 1580 0 13986 3388 932 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transition C T C>T 0.000 -2.619 200 PASS . . . . . . . . . . . . . . . . 0.15841584 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 202.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . 0.17 0.19 182 ENSG00000242473 . . . . dist\x3d7514\x3bdist\x3d8856 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.42e-05 0 0 0 0 7.15e-05 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs644822 rs644822 rs644822 rs644822 1 1538 10 1/0 0,202,255 +rs879002981 19 55272024 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55272024 55272024 Chr19(GRCh37):g.55272024T>C *7996 *7996 NM_001291695.1:c.*7996T>C p.? p.? 8 604953 8140 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs879002981 no no 0 0.000000 0 transition T C T>C 0.000 -1.328 223 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 189.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . ENSG00000242473 . . . . dist\x3d7520\x3bdist\x3d8850 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,211,255 +. 19 55272027 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55272027 55272027 Chr19(GRCh37):g.55272027T>C *7999 *7999 NM_001291695.1:c.*7999T>C p.? p.? 8 604953 8143 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition T C T>C 0.000 -0.440 216 PASS . . . . . . . . . . . . . . . . 0.2010582 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 189.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . ENSG00000242473 . . . . dist\x3d7523\x3bdist\x3d8847 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +rs867296486 19 55275348 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55275348 55275348 Chr19(GRCh37):g.55275348C>T *11320 *11320 NM_001291695.1:c.*11320C>T p.? p.? 8 604953 11464 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55275359 0.000864 62.1426 0.491761 0.002314 66.2445 rs867296486 no no 0 0.000000 0 transition C T C>T 0.004 -0.279 243 PASS . . . . . . . . . . . ENSG00000243772:ENST00000434419:exon5:c.C670T:p.P224S . . . . 0.28244275 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.081 . @ . . . . . 3 0.059 . . 131.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9243 -1.169 -0.924 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.005 . . exonic intronic intergenic . . 0.102 @ . . . . . . ENSG00000243772 . . . . dist\x3d10844\x3bdist\x3d5526 0.000 0.012 . . . . . . . . . 0 . . . . . . T 0.001 0.000 . . 37 . 0.004 . . 0.417 . . . . 0.090 . . . . . . . . . . . . . . . 0.503 . . . . . . 0 . . . . . . . . . . . . . 0.443 . . . . . . . 0.054 . HET 0.13 . . . . . . . . . . . . . . . ENST00000434419 0.704 -0.822 . 0.060000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.203 . -0.279 -0.279000 . . 0.060000 . . 1.0E-243 0.003 0.159 . 0.134 0.069 . 0.075 . 0.256 -0.279 0.143 . . . . . 1 1538 10 1/0 0,231,255 +. 19 55278658 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278658 55278658 Chr19(GRCh37):g.55278658A>T *14630 *14630 NM_001291695.1:c.*14630A>T p.? p.? 8 604953 14774 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion A T A>T 0.000 0.690 176 PASS . . . . . . . . . . . . . . . . 0.10666667 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.082 . @ . . . . . 3 0.065 . . 75.0 . . . . . . . . . . -0.2198 -0.205 -0.220 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.183 @ . . . . . . ENSG00000242473 . . . . dist\x3d14154\x3bdist\x3d2216 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.091 . . . LowAF 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.042 . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . 1.0E-176 0.000 0.063 . 0.016 0.023 . 0.205 . 0.067 . 0.804 . . . . . 1 1538 10 1/0 0,239,255 +. 19 55278682 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278682 55278682 Chr19(GRCh37):g.55278682C>T *14654 *14654 NM_001291695.1:c.*14654C>T p.? p.? 8 604953 14798 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs950313296 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 -0.602 174 PASS . . . . . . . . . . . . . . . . 0.10227273 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 88.0 . . . . . . . . . . -0.4763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . ENSG00000242473 . . . . dist\x3d14178\x3bdist\x3d2192 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs4020179 19 55278684 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278684 55278684 Chr19(GRCh37):g.55278684T>C *14656 *14656 NM_001291695.1:c.*14656T>C p.? p.? 8 604953 14800 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs4020179 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000205 0.000000 0.000000 0.000000 0.000000 0.000000 0.000354 0.000293 0.000000 0.000354 6 0 0 0 0 0 5 1 0 29338 8252 802 274 1560 0 14106 3410 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 5 1 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transition T C T>C 0.000 -0.037 179 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.11235955 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.080 . @ . . . . . 3 0.039 . . 89.0 . . . . . . . . . . -0.3891 -0.227 -0.389 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.183 0.0002 . . . 0.32 0.33 182 ENSG00000242473 . . . . dist\x3d14180\x3bdist\x3d2190 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.067 . . . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.001 . . . . . . . . . . . . 0 0.0002 0 0 0 0.0003 0.0004 0 . . 0.004 . . . . . . . . 1.0E-179 0.000 0.063 . 0.043 0.087 . 0.124 . 0.049 . -0.206 . rs4020179 rs4020179 rs4020179 rs4020179 1 1538 10 1/0 0,232,255 +. 19 55278714 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278714 55278714 Chr19(GRCh37):g.55278714G>C *14686 *14686 NM_001291695.1:c.*14686G>C p.? p.? 8 604953 14830 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 0.000071 1 0 0 0 0 0 1 0 0 29258 8236 802 274 1572 0 14048 3396 930 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion G C G>C 0.004 -0.682 204 PASS . . . . . . . . . . . . . . . . 0.16964285 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.053 . @ . . . . . 3 0.097 . . 112.0 . . . . . . . . . . -0.5377 -0.252 -0.538 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.075 @ . . . . . . ENSG00000242473 . . . . dist\x3d14210\x3bdist\x3d2160 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.100 . . . HET 0.09 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.020 . . . . . . . . . . . . 0 3.418e-05 0 0 0 0 7.118e-05 0 . . 0.004 . . . . . . . . 1.0E-204 0.000 0.063 . 0.043 0.008 . 0.012 . 0.052 . 0.373 . . . . . 1 1538 10 1/0 0,227,255 +rs552143643 19 55278725 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278725 55278725 Chr19(GRCh37):g.55278725C>T *14697 *14697 NM_001291695.1:c.*14697C>T p.? p.? 8 604953 14841 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Weakly Activated 55278737 5.32302 0.783108 79.7396 5.20889 0.836743 83.0542 rs552143643 yes no Frequency/1000G 2 0.000000 0 0.000799 0.001500 0.000000 0.000000 0.001000 0.001400 0.000650 0.002190 0.000000 0.000000 0.000638 0.000000 0.000000 0.000000 0.000000 0.002190 19 18 0 0 1 0 0 0 0 29212 8218 798 280 1568 0 14020 3400 928 0.210526 0.222222 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 4 4 0 0 0 0 0 0 0 11 10 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transition C T C>T 0.000 -1.409 209 PASS . . . . . 0.0015 0.0008 0.0014 . 0.001 . . . . . . 0.1826087 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.085 . @ . . . . . 3 0.043 . . 115.0 . . . . . . . . . . -0.5588 -0.253 -0.559 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.075 0.0008 . . . . . . ENSG00000242473 . . . . dist\x3d14221\x3bdist\x3d2149 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.049 . . . HET 0.06 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.018 . . . . . . . . . . . . 0.0022 0.0007 0 0 0.0006 0 0 0 . . 0.004 . . . . . . . . 1.0E-209 0.000 0.063 . 0.016 0.000 . 0.058 . 0.006 . -0.819 . . . . . 1 1538 10 1/0 0,227,255 +rs139233714 19 55278726 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278726 55278726 Chr19(GRCh37):g.55278726G>C *14698 *14698 NM_001291695.1:c.*14698G>C p.? p.? 8 604953 14842 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55278737 5.32302 0.783108 79.7396 6.21474 0.893783 79.7396 transversion G C G>C 0.000 -0.602 207 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.038 . @ . . . . . 3 0.018 . . 119.0 . . . . . . . . . . -0.6229 -0.260 -0.623 n . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . 0.075 0.0016 . . . 0.22 0.24 182 ENSG00000242473 . . . . dist\x3d14222\x3bdist\x3d2148 0.000 0.012 . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . 0.236 . . . HET 0.1 . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.004 . . . . . . . . 1.0E-207 0.000 0.063 . 0.016 0.000 . 0.056 . 0.007 . -0.804 . . . . . 1 1538 10 1/0 0,225,255 +. 19 55278751 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55278751 55278751 Chr19(GRCh37):g.55278751C>T *14723 *14723 NM_001291695.1:c.*14723C>T p.? p.? 8 604953 14867 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition C T C>T 0.000 -0.117 223 PASS . . . . . . . . . . . . . . . . 0.22302158 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 139.0 . . . . . . . . . . -0.3237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . ENSG00000242473 . . . . dist\x3d14247\x3bdist\x3d2123 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,223,255 +rs544047457 19 55281270 C G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution 5'UTR GRCh37 55281270 55281270 Chr19(GRCh37):g.55281270C>G -33 -33 NM_014218.2:c.-33C>G p.? p.? 1 604936 -67 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 8.45283 0 rs544047457 yes no Frequency/1000G 2 0.000000 0 0.001997 0.002300 0.003100 0.000000 0.002000 0.002900 0.000017 0.000000 0.000000 0.000000 0.000000 0.000067 0.000018 0.000000 0.000000 0.000067 4 0 0 0 0 2 2 0 0 237628 14998 32442 9218 17054 29778 108264 20568 5306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion C G C>G 0.000 -0.360 192 PASS . . . . . 0.0023 0.002 0.0029 . 0.002 0.0031 . . . . . 0.14 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . -0.4103 . . . . . . . . 7.252e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.273e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.309e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . 0.0020 . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.683e-05 0 0 0 0 1.847e-05 0 6.716e-05 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +rs544047457 19 55281270 C G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution upstream GRCh37 55281270 55281270 Chr19(GRCh37):g.55281270C>G -33 -33 NM_014219.2:c.-33C>G p.? p.? 1 604937 -67 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 9.21211 0 rs544047457 yes no Frequency/1000G 2 0.000000 0 0.001997 0.002300 0.003100 0.000000 0.002000 0.002900 0.000017 0.000000 0.000000 0.000000 0.000000 0.000067 0.000018 0.000000 0.000000 0.000067 4 0 0 0 0 2 2 0 0 237628 14998 32442 9218 17054 29778 108264 20568 5306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion C G C>G 0.000 -0.360 192 PASS . . . . . 0.0023 0.002 0.0029 . 0.002 0.0031 . . . . . 0.14 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . -0.4103 . . . . . . . . 7.252e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.273e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.309e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . 0.0020 . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.683e-05 0 0 0 0 1.847e-05 0 6.716e-05 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +rs544047457 19 55281270 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281270 55281270 Chr19(GRCh37):g.55281270C>G *17242 *17242 NM_001291695.1:c.*17242C>G p.? p.? 8 604953 17386 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs544047457 yes no Frequency/1000G 2 0.000000 0 0.001997 0.002300 0.003100 0.000000 0.002000 0.002900 0.000017 0.000000 0.000000 0.000000 0.000000 0.000067 0.000018 0.000000 0.000000 0.000067 4 0 0 0 0 2 2 0 0 237628 14998 32442 9218 17054 29778 108264 20568 5306 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion C G C>G 0.000 -0.360 192 PASS . . . . . 0.0023 0.002 0.0029 . 0.002 0.0031 . . . . . 0.14 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . . . . . . . . . -0.4103 . . . . . . . . 7.252e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.273e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.309e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . 0.0020 . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.683e-05 0 0 0 0 1.847e-05 0 6.716e-05 . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,212,255 +rs770966271 19 55281273 T G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution 5'UTR GRCh37 55281273 55281273 Chr19(GRCh37):g.55281273T>G -30 -30 NM_014218.2:c.-30T>G p.? p.? 1 604936 -64 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.22473 0 rs770966271 yes no Frequency 1 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000101 0.000018 0.000000 0.000000 0.000101 5 0 0 0 0 3 2 0 0 237774 15004 32442 9218 17054 29778 108310 20668 5300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion T G T>G 0.000 -1.732 211 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 160.0 . . . . . . . . . . -0.8011 . . . . . . . . 6.446e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.271e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.308e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.103e-05 0 0 0 0 1.847e-05 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +rs770966271 19 55281273 T G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution upstream GRCh37 55281273 55281273 Chr19(GRCh37):g.55281273T>G -30 -30 NM_014219.2:c.-30T>G p.? p.? 1 604937 -64 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 9.98401 0 rs770966271 yes no Frequency 1 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000101 0.000018 0.000000 0.000000 0.000101 5 0 0 0 0 3 2 0 0 237774 15004 32442 9218 17054 29778 108310 20668 5300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion T G T>G 0.000 -1.732 211 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 160.0 . . . . . . . . . . -0.8011 . . . . . . . . 6.446e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.271e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.308e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.103e-05 0 0 0 0 1.847e-05 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +rs770966271 19 55281273 T G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281273 55281273 Chr19(GRCh37):g.55281273T>G *17245 *17245 NM_001291695.1:c.*17245T>G p.? p.? 8 604953 17389 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs770966271 yes no Frequency 1 0.000000 0 0.000021 0.000000 0.000000 0.000000 0.000000 0.000101 0.000018 0.000000 0.000000 0.000101 5 0 0 0 0 3 2 0 0 237774 15004 32442 9218 17054 29778 108310 20668 5300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 0 PASS 94 Exomes transversion T G T>G 0.000 -1.732 211 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 160.0 . . . . . . . . . . -0.8011 . . . . . . . . 6.446e-05 . . . 0 2.278e-05 0 0 0 2.469e-05 0 6.271e-05 0 1.939e-05 0 0 0 1.9e-05 0 6.308e-05 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.103e-05 0 0 0 0 1.847e-05 0 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +rs200043424 19 55281291 T A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution 5'UTR GRCh37 55281291 55281291 Chr19(GRCh37):g.55281291T>A -12 -12 NM_014218.2:c.-12T>A p.? p.? 1 604936 -46 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.23676 0 rs200043424 yes no Frequency/1000G 2 0.000000 0 0.000049 0.000342 0.000000 0.000000 0.000000 0.000067 0.000024 0.000000 0.000000 0.000342 13 8 0 0 0 2 3 0 0 267660 23394 33250 9508 18640 29786 122598 24234 6250 0.000022 0.000171 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000000 3 2 0 0 0 1 0 0 0 7 4 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.378 -0.198 255 PASS . 0.0005 . . 0.0013 . . . . . . . . . . . 0.3546798 . . @ 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 203.0 . . . . . . . . . . -0.5437 . . . . . . . . 4.833e-05 . . . 0.0003 6.828e-05 0 0 0 2.466e-05 0 0.0001 0.0003 4.845e-05 0 0 0 0 0 0.0001 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.4 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 4.201e-05 0 0 0 0 1.845e-05 0 6.715e-05 0.0002 0.0001 0 0 0 0 7.037e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200043424 rs200043424 1 1538 10 1/0 0,215,242 +rs200043424 (chr19:55281291 T/A) 19 55281291 T A Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs200043424 19 55281291 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281291 55281291 Chr19(GRCh37):g.55281291T>A *17263 *17263 NM_001291695.1:c.*17263T>A p.? p.? 8 604953 17407 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200043424 yes no Frequency/1000G 2 0.000000 0 0.000049 0.000342 0.000000 0.000000 0.000000 0.000067 0.000024 0.000000 0.000000 0.000342 13 8 0 0 0 2 3 0 0 267660 23394 33250 9508 18640 29786 122598 24234 6250 0.000022 0.000171 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000000 3 2 0 0 0 1 0 0 0 7 4 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.378 -0.198 255 PASS . 0.0005 . . 0.0013 . . . . . . . . . . . 0.3546798 . . @ 72 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 203.0 . . . . . . . . . . -0.5437 . . . . . . . . 4.833e-05 . . . 0.0003 6.828e-05 0 0 0 2.466e-05 0 0.0001 0.0003 4.845e-05 0 0 0 0 0 0.0001 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.4 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 4.201e-05 0 0 0 0 1.845e-05 0 6.715e-05 0.0002 0.0001 0 0 0 0 7.037e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs200043424 rs200043424 1 1538 10 1/0 0,215,242 +rs368074906 19 55281312 T A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55281312 55281312 Chr19(GRCh37):g.55281312T>A 10 10 NM_014218.2:c.10T>A p.Leu4Met p.Leu4Met 1 604936 -25 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.11194 0 rs368074906 yes no Frequency/1000G 2 0.000000 0 0.003395 0.001500 0.011200 0.000000 0.002000 0.002900 0.000717 0.000128 0.000030 0.000000 0.000000 0.006211 0.000016 0.000000 0.000160 0.006211 192 3 1 0 0 185 2 0 1 267908 23358 33248 9506 18632 29786 122666 24458 6254 0.000254 0.000000 0.000000 0.000000 0.000000 0.002283 0.000000 0.000000 0.000000 34 0 0 0 0 34 0 0 0 124 3 1 0 0 117 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1612802|COSM1612802|COSM1612802 Pancreas|Liver|Central nervous system 0.001138|0.000422|0.000416 1758|2371|2405 transversion T A T>A 0.984 -0.279 L Leu TTG 0.127 M Met ATG 1.000 4 7 1 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 353.86 0.00 Tolerated 0.27 III.54 unknown 0.0 0.0 255 PASS . . . . . 0.0015 0.0034 0.0029 . 0.002 0.011 . . KIR2DL1:NM_014218:exon1:c.T10A:p.L4M . . 0.4635193 . . @ 108 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.018 . @ . . . . . 0 0.065 . . 233.0 . . . . . . . . . . -1.8727 -1.867 -1.873 c . . . . . 7.973e-04 . . . 9.852e-05 0.0011 0.0002 0 0 4.93e-05 0 0.0058 0 0.0009 0.0002 0 0 5.693e-05 0 0.0058 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.161 0.0034 . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . 10 0.000153903 64976 2 3.33411e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.001 . . 0.354 . . . 0.017 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.139 . . . . . . 2 0.010 . . . . . . . 0.363 . HET 1 . . . . . . . . . . . . . . . . 0.514 0.514 . 1.000000 . . . . . . 0.004 . . . 6.668e-05 0.0008 3.082e-05 0 0 0 1.844e-05 0.0002 0.0062 0.0002 6.752e-05 0 0 0 0 0 0 . . 0.133 . -0.394 -0.394000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.090 0.035 . 0.072 . 0.007 -0.394 -1.990 . . . rs368074906 rs368074906 1 1538 10 1/0 0,217,231 +rs368074906 (chr19:55281312 T/A) 19 55281312 T A Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs368074906 19 55281312 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281312 55281312 Chr19(GRCh37):g.55281312T>A *17284 *17284 NM_001291695.1:c.*17284T>A p.? p.? 8 604953 17428 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs368074906 yes no Frequency/1000G 2 0.000000 0 0.003395 0.001500 0.011200 0.000000 0.002000 0.002900 0.000717 0.000128 0.000030 0.000000 0.000000 0.006211 0.000016 0.000000 0.000160 0.006211 192 3 1 0 0 185 2 0 1 267908 23358 33248 9506 18632 29786 122666 24458 6254 0.000254 0.000000 0.000000 0.000000 0.000000 0.002283 0.000000 0.000000 0.000000 34 0 0 0 0 34 0 0 0 124 3 1 0 0 117 2 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1612802|COSM1612802|COSM1612802 Pancreas|Liver|Central nervous system 0.001138|0.000422|0.000416 1758|2371|2405 transversion T A T>A 0.984 -0.279 255 PASS . . . . . 0.0015 0.0034 0.0029 . 0.002 0.011 . . KIR2DL1:NM_014218:exon1:c.T10A:p.L4M . . 0.4635193 . . @ 108 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.018 . @ . . . . . 0 0.065 . . 233.0 . . . . . . . . . . -1.8727 -1.867 -1.873 c . . . . . 7.973e-04 . . . 9.852e-05 0.0011 0.0002 0 0 4.93e-05 0 0.0058 0 0.0009 0.0002 0 0 5.693e-05 0 0.0058 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.161 0.0034 . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . 10 0.000153903 64976 2 3.33411e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . 0.001 . . 0.354 . . . 0.017 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.139 . . . . . . 2 0.010 . . . . . . . 0.363 . HET 1 . . . . . . . . . . . . . . . . 0.514 0.514 . 1.000000 . . . . . . 0.004 . . . 6.668e-05 0.0008 3.082e-05 0 0 0 1.844e-05 0.0002 0.0062 0.0002 6.752e-05 0 0 0 0 0 0 . . 0.133 . -0.394 -0.394000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.090 0.035 . 0.072 . 0.007 -0.394 -1.990 . . . rs368074906 rs368074906 1 1538 10 1/0 0,217,231 +rs375195215 19 55281318 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55281318 55281318 Chr19(GRCh37):g.55281318G>A 16 16 NM_014218.2:c.16G>A p.Val6Ile p.Val6Ile 1 604936 -19 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 VIII.02 0 rs375195215 yes no Frequency 1 0.000000 0 0.000022 0.000128 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000128 6 3 0 0 0 0 3 0 0 267906 23414 33254 9500 18638 29788 122642 24422 6248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1255880|COSM1255880|COSM1255880|COSM1255880 Stomach|Pancreas|Large intestine|Central nervous system 0.001161|0.000569|0.000836|0.000416 861|1758|2391|2405 transition G A G>A 0.929 -0.440 V Val GTC 0.240 I Ile ATC 0.481 6 7 1 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 1 III.54 unknown 0.0 0.0 231 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon1:c.G16A:p.V6I . . 0.24561404 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 0 0.111 . . 285.0 . . . . . . . . . . -1.4037 -1.525 -1.404 c . . . . . 4.026e-05 . . . 0.0002 4.551e-05 8.894e-05 0 0 2.465e-05 0 0 0.0001 1.937e-05 0 0 0 1.897e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.095 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.222 0.008 . . 37 . 0.003 . . 0.390 . . . 0.104 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.154 . . 0.133 . . . . . . 2 0.302 . . . . . . . 0.193 . HET 0.22 . . . . . . . . . . . . . . . . 0.514 -1.03 . 0.030000 . . . . . . 0.008 . . . 0.0001 1.679e-05 0 0 0 0 1.845e-05 0 0 0.0001 6.744e-05 0 0 0 0 7.036e-05 0 . . 0.133 . -0.402 -0.402000 . . 0.030000 . . 1.0E-231 0.021 0.196 . 0.104 0.027 . 0.194 . 0.056 -0.402 -1.242 . . . rs375195215 rs375195215 1 1538 10 1/0 0,193,243 +rs375195215 19 55281318 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55281318 55281318 Chr19(GRCh37):g.55281318G>A 16 16 NM_014219.2:c.16G>A p.Val6Ile p.Val6Ile 1 604937 -19 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 9.64949 0 rs375195215 yes no Frequency 1 0.000000 0 0.000022 0.000128 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000128 6 3 0 0 0 0 3 0 0 267906 23414 33254 9500 18638 29788 122642 24422 6248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1255880|COSM1255880|COSM1255880|COSM1255880 Stomach|Pancreas|Large intestine|Central nervous system 0.001161|0.000569|0.000836|0.000416 861|1758|2391|2405 transition G A G>A 0.929 -0.440 V Val GTC 0.240 I Ile ATC 0.481 6 11 3 Orangutan 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Tolerated 1 II.93 good 9.997E-1 0.001108 231 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon1:c.G16A:p.V6I . . 0.24561404 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 0 0.111 . . 285.0 . . . . . . . . . . -1.4037 -1.525 -1.404 c . . . . . 4.026e-05 . . . 0.0002 4.551e-05 8.894e-05 0 0 2.465e-05 0 0 0.0001 1.937e-05 0 0 0 1.897e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.095 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.222 0.008 . . 37 . 0.003 . . 0.390 . . . 0.104 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.154 . . 0.133 . . . . . . 2 0.302 . . . . . . . 0.193 . HET 0.22 . . . . . . . . . . . . . . . . 0.514 -1.03 . 0.030000 . . . . . . 0.008 . . . 0.0001 1.679e-05 0 0 0 0 1.845e-05 0 0 0.0001 6.744e-05 0 0 0 0 7.036e-05 0 . . 0.133 . -0.402 -0.402000 . . 0.030000 . . 1.0E-231 0.021 0.196 . 0.104 0.027 . 0.194 . 0.056 -0.402 -1.242 . . . rs375195215 rs375195215 1 1538 10 1/0 0,193,243 +rs375195215 19 55281318 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281318 55281318 Chr19(GRCh37):g.55281318G>A *17290 *17290 NM_001291695.1:c.*17290G>A p.? p.? 8 604953 17434 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs375195215 yes no Frequency 1 0.000000 0 0.000022 0.000128 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000128 6 3 0 0 0 0 3 0 0 267906 23414 33254 9500 18638 29788 122642 24422 6248 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM1255880|COSM1255880|COSM1255880|COSM1255880 Stomach|Pancreas|Large intestine|Central nervous system 0.001161|0.000569|0.000836|0.000416 861|1758|2391|2405 transition G A G>A 0.929 -0.440 231 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon1:c.G16A:p.V6I . . 0.24561404 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.049 . @ . . . . . 0 0.111 . . 285.0 . . . . . . . . . . -1.4037 -1.525 -1.404 c . . . . . 4.026e-05 . . . 0.0002 4.551e-05 8.894e-05 0 0 2.465e-05 0 0 0.0001 1.937e-05 0 0 0 1.897e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.095 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.222 0.008 . . 37 . 0.003 . . 0.390 . . . 0.104 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.154 . . 0.133 . . . . . . 2 0.302 . . . . . . . 0.193 . HET 0.22 . . . . . . . . . . . . . . . . 0.514 -1.03 . 0.030000 . . . . . . 0.008 . . . 0.0001 1.679e-05 0 0 0 0 1.845e-05 0 0 0.0001 6.744e-05 0 0 0 0 7.036e-05 0 . . 0.133 . -0.402 -0.402000 . . 0.030000 . . 1.0E-231 0.021 0.196 . 0.104 0.027 . 0.194 . 0.056 -0.402 -1.242 . . . rs375195215 rs375195215 1 1538 10 1/0 0,193,243 +. 19 55281350 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55281350 55281350 Chr19(GRCh37):g.55281350A>G 34+14 34+14 NM_014218.2:c.34+14A>G p.? p.? 1 1 604936 14 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.36068 0 rs386810968 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 237784 15002 32424 9220 17042 29774 108372 20648 5302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 99 Exomes transition A G A>G 0.016 -1.409 189 PASS . . . . . . . . . . . . . . . . 0.13192612 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 379.0 . . . . . . . . . . -0.7180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55281350 A G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55281350 55281350 Chr19(GRCh37):g.55281350A>G 34+14 34+14 NM_014219.2:c.34+14A>G p.? p.? 1 1 604937 14 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 10.XII 0 rs386810968 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 237784 15002 32424 9220 17042 29774 108372 20648 5302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 99 Exomes transition A G A>G 0.016 -1.409 189 PASS . . . . . . . . . . . . . . . . 0.13192612 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 379.0 . . . . . . . . . . -0.7180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55281350 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281350 55281350 Chr19(GRCh37):g.55281350A>G *17322 *17322 NM_001291695.1:c.*17322A>G p.? p.? 8 604953 17466 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs386810968 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 237784 15002 32424 9220 17042 29774 108372 20648 5302 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 99 Exomes transition A G A>G 0.016 -1.409 189 PASS . . . . . . . . . . . . . . . . 0.13192612 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 379.0 . . . . . . . . . . -0.7180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs149941858 19 55281352 C G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55281352 55281352 Chr19(GRCh37):g.55281352C>G 34+16 34+16 NM_014218.2:c.34+16C>G p.? p.? 1 1 604936 16 5' 82.9985 9.27414 0.977682 8.85993 82.9985 9.27414 0.977682 9.10469 0 rs149941858 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 267178 23320 33242 9494 18626 29780 122516 23956 6244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6928934 . . @ 273 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 394.0 . . . . . . . . . . -0.3572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.2 0.11 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149941858 rs149941858 1 1538 10 1/0 0,203,200 +rs149941858 19 55281352 C G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55281352 55281352 Chr19(GRCh37):g.55281352C>G 34+16 34+16 NM_014219.2:c.34+16C>G p.? p.? 1 1 604937 16 5' 82.9985 9.27414 0.977682 9.61922 82.9985 9.27414 0.977682 9.86397 0 rs149941858 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 267178 23320 33242 9494 18626 29780 122516 23956 6244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6928934 . . @ 273 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 394.0 . . . . . . . . . . -0.3572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.2 0.11 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149941858 rs149941858 1 1538 10 1/0 0,203,200 +rs149941858 19 55281352 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55281352 55281352 Chr19(GRCh37):g.55281352C>G *17324 *17324 NM_001291695.1:c.*17324C>G p.? p.? 8 604953 17468 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs149941858 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 267178 23320 33242 9494 18626 29780 122516 23956 6244 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6928934 . . @ 273 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 394.0 . . . . . . . . . . -0.3572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.2 0.11 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs149941858 rs149941858 1 1538 10 1/0 0,203,200 +rs878874352 19 55282169 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282169 55282169 Chr19(GRCh37):g.55282169G>A 35-132 35-132 NM_014218.2:c.35-132G>A p.? p.? 2 1 604936 -132 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 New Acceptor Site 55282171 0.0503951 0.000454 68.5442 rs878874352 no no 0 0.000000 0 transition G A G>A 0.016 1.900 197 PASS . . . . . . . . . . . . . . . . 0.15075377 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 398.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs878874352 19 55282169 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282169 55282169 Chr19(GRCh37):g.55282169G>A 35-132 35-132 NM_014219.2:c.35-132G>A p.? p.? 2 1 604937 -132 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 New Acceptor Site 55282171 0.0503951 0.000454 68.5442 rs878874352 no no 0 0.000000 0 transition G A G>A 0.016 1.900 197 PASS . . . . . . . . . . . . . . . . 0.15075377 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 398.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs878874352 19 55282169 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282169 55282169 Chr19(GRCh37):g.55282169G>A *18141 *18141 NM_001291695.1:c.*18141G>A p.? p.? 8 604953 18285 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 New Acceptor Site 55282171 0.0503951 0.000454 68.5442 rs878874352 no no 0 0.000000 0 transition G A G>A 0.016 1.900 197 PASS . . . . . . . . . . . . . . . . 0.15075377 . . @ 60 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 398.0 . . . . . . . . . . -0.1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs879207861 19 55282171 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282171 55282171 Chr19(GRCh37):g.55282171T>C 35-130 35-130 NM_014218.2:c.35-130T>C p.? p.? 2 1 604936 -130 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs879207861 no no 0 0.000000 0 transition T C T>C 0.008 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.32178217 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 404.0 . . . . . . . . . . -0.2631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,240 +rs879207861 19 55282171 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282171 55282171 Chr19(GRCh37):g.55282171T>C 35-130 35-130 NM_014219.2:c.35-130T>C p.? p.? 2 1 604937 -130 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs879207861 no no 0 0.000000 0 transition T C T>C 0.008 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.32178217 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 404.0 . . . . . . . . . . -0.2631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,240 +rs879207861 19 55282171 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282171 55282171 Chr19(GRCh37):g.55282171T>C *18143 *18143 NM_001291695.1:c.*18143T>C p.? p.? 8 604953 18287 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs879207861 no no 0 0.000000 0 transition T C T>C 0.008 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.32178217 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 404.0 . . . . . . . . . . -0.2631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,240 +rs879136560 19 55282172 A T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282172 55282172 Chr19(GRCh37):g.55282172A>T 35-129 35-129 NM_014218.2:c.35-129A>T p.? p.? 2 1 604936 -129 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs879136560 no no 0 0.000000 0 transversion A T A>T 0.008 -0.037 198 PASS . . . . . . . . . . . . . . . . 0.1525 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.3405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs879136560 19 55282172 A T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282172 55282172 Chr19(GRCh37):g.55282172A>T 35-129 35-129 NM_014219.2:c.35-129A>T p.? p.? 2 1 604937 -129 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs879136560 no no 0 0.000000 0 transversion A T A>T 0.008 -0.037 198 PASS . . . . . . . . . . . . . . . . 0.1525 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.3405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs879136560 19 55282172 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282172 55282172 Chr19(GRCh37):g.55282172A>T *18144 *18144 NM_001291695.1:c.*18144A>T p.? p.? 8 604953 18288 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs879136560 no no 0 0.000000 0 transversion A T A>T 0.008 -0.037 198 PASS . . . . . . . . . . . . . . . . 0.1525 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.3405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +rs138903845 19 55282191 A C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282191 55282191 Chr19(GRCh37):g.55282191A>C 35-110 35-110 NM_014218.2:c.35-110A>C p.? p.? 2 1 604936 -110 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs138903845 no no 0 0.000000 0 transversion A C A>C 0.630 0.609 255 PASS . . . . . . . . . . . . . . . . 0.39379475 . . @ 165 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 419.0 . . . . . . . . . . -0.2927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic\x3bsplicing . . . @ . . . 0.35 0.28 182 ENSG00000215765 GQ422373 LOC101928804\x3bLOC101928804 . . NR_110738:exon2:c.240+2T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138903845 rs138903845 1 1538 10 1/0 0,192,235 +rs138903845 19 55282191 A C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282191 55282191 Chr19(GRCh37):g.55282191A>C 35-110 35-110 NM_014219.2:c.35-110A>C p.? p.? 2 1 604937 -110 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs138903845 no no 0 0.000000 0 transversion A C A>C 0.630 0.609 255 PASS . . . . . . . . . . . . . . . . 0.39379475 . . @ 165 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 419.0 . . . . . . . . . . -0.2927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic\x3bsplicing . . . @ . . . 0.35 0.28 182 ENSG00000215765 GQ422373 LOC101928804\x3bLOC101928804 . . NR_110738:exon2:c.240+2T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138903845 rs138903845 1 1538 10 1/0 0,192,235 +rs138903845 19 55282191 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282191 55282191 Chr19(GRCh37):g.55282191A>C *18163 *18163 NM_001291695.1:c.*18163A>C p.? p.? 8 604953 18307 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs138903845 no no 0 0.000000 0 transversion A C A>C 0.630 0.609 255 PASS . . . . . . . . . . . . . . . . 0.39379475 . . @ 165 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 419.0 . . . . . . . . . . -0.2927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic\x3bsplicing . . . @ . . . 0.35 0.28 182 ENSG00000215765 GQ422373 LOC101928804\x3bLOC101928804 . . NR_110738:exon2:c.240+2T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138903845 rs138903845 1 1538 10 1/0 0,192,235 +rs199664786 19 55282204 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282204 55282204 Chr19(GRCh37):g.55282204G>C 35-97 35-97 NM_014218.2:c.35-97G>C p.? p.? 2 1 604936 -97 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs199664786 no no 0 0.000000 0 transversion G C G>C 0.000 -0.763 240 PASS . . . . . . . . . . . . . . . . 0.2737819 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 431.0 . . . . . . . . . . -0.7510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.38 0.27 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs75841906 rs199664786 1 1538 10 1/0 0,180,255 +rs199664786 19 55282204 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282204 55282204 Chr19(GRCh37):g.55282204G>C 35-97 35-97 NM_014219.2:c.35-97G>C p.? p.? 2 1 604937 -97 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.34656 0 rs199664786 no no 0 0.000000 0 transversion G C G>C 0.000 -0.763 240 PASS . . . . . . . . . . . . . . . . 0.2737819 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 431.0 . . . . . . . . . . -0.7510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.38 0.27 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs75841906 rs199664786 1 1538 10 1/0 0,180,255 +rs199664786 19 55282204 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282204 55282204 Chr19(GRCh37):g.55282204G>C *18176 *18176 NM_001291695.1:c.*18176G>C p.? p.? 8 604953 18320 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs199664786 no no 0 0.000000 0 transversion G C G>C 0.000 -0.763 240 PASS . . . . . . . . . . . . . . . . 0.2737819 . . @ 118 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 431.0 . . . . . . . . . . -0.7510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.38 0.27 182 ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs75841906 rs199664786 1 1538 10 1/0 0,180,255 +rs758609654 19 55282251 T A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282251 55282251 Chr19(GRCh37):g.55282251T>A 35-50 35-50 NM_014218.2:c.35-50T>A p.? p.? 2 1 604936 -50 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 8.96812 0 rs758609654 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000028 1 0 0 0 0 0 1 0 0 85912 7892 13966 1380 12616 7400 35498 5434 1726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -2.054 223 PASS . . . . . . . . . . . . . . . . 0.2218845 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 329.0 . . . . . . . . . . -0.9611 . . . . . . . . 2.313e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,187,255 +rs758609654 19 55282251 T A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282251 55282251 Chr19(GRCh37):g.55282251T>A 35-50 35-50 NM_014219.2:c.35-50T>A p.? p.? 2 1 604937 -50 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 8.96812 0 rs758609654 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000028 1 0 0 0 0 0 1 0 0 85912 7892 13966 1380 12616 7400 35498 5434 1726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -2.054 223 PASS . . . . . . . . . . . . . . . . 0.2218845 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 329.0 . . . . . . . . . . -0.9611 . . . . . . . . 2.313e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,187,255 +rs758609654 19 55282251 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282251 55282251 Chr19(GRCh37):g.55282251T>A *18223 *18223 NM_001291695.1:c.*18223T>A p.? p.? 8 604953 18367 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs758609654 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000000 0.000000 0.000028 1 0 0 0 0 0 1 0 0 85912 7892 13966 1380 12616 7400 35498 5434 1726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T A T>A 0.000 -2.054 223 PASS . . . . . . . . . . . . . . . . 0.2218845 . . @ 73 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 329.0 . . . . . . . . . . -0.9611 . . . . . . . . 2.313e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,187,255 +rs778022920 19 55282253 C T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282253 55282253 Chr19(GRCh37):g.55282253C>T 35-48 35-48 NM_014218.2:c.35-48C>T p.? p.? 2 1 604936 -48 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.43308 0 Cryptic Acceptor Weakly Activated 55282270 10.1254 0.621406 85.9346 X.56 0.779744 85.9346 transition C T C>T 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.18639053 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 338.0 . . . . . . . . . . -0.6465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs778022920 19 55282253 C T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282253 55282253 Chr19(GRCh37):g.55282253C>T 35-48 35-48 NM_014219.2:c.35-48C>T p.? p.? 2 1 604937 -48 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.43308 0 Cryptic Acceptor Weakly Activated 55282270 10.1254 0.621406 85.9346 X.56 0.779744 85.9346 transition C T C>T 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.18639053 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 338.0 . . . . . . . . . . -0.6465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +rs778022920 19 55282253 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282253 55282253 Chr19(GRCh37):g.55282253C>T *18225 *18225 NM_001291695.1:c.*18225C>T p.? p.? 8 604953 18369 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Weakly Activated 55282270 10.1254 0.621406 85.9346 X.56 0.779744 85.9346 transition C T C>T 0.000 -0.924 212 PASS . . . . . . . . . . . . . . . . 0.18639053 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 338.0 . . . . . . . . . . -0.6465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,184,255 +. 19 55282274 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55282274 55282274 Chr19(GRCh37):g.55282274G>A 35-27 35-27 NM_014218.2:c.35-27G>A p.? p.? 2 1 604936 -27 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.39587 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105184 7858 15920 1810 13332 9070 45758 9404 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Exomes transition G A G>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11985019 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.4615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +. 19 55282274 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55282274 55282274 Chr19(GRCh37):g.55282274G>A 35-27 35-27 NM_014219.2:c.35-27G>A p.? p.? 2 1 604937 -27 3' 96.9454 9.89617 0.996298 9.34656 96.9454 9.89617 0.996298 9.39587 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105184 7858 15920 1810 13332 9070 45758 9404 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Exomes transition G A G>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11985019 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.4615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +. 19 55282274 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55282274 55282274 Chr19(GRCh37):g.55282274G>A *18246 *18246 NM_001291695.1:c.*18246G>A p.? p.? 8 604953 18390 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 105184 7858 15920 1810 13332 9070 45758 9404 2032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 40 Exomes transition G A G>A 0.000 -0.682 183 PASS . . . . . . . . . . . . . . . . 0.11985019 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.4615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215765 GQ422373 LOC101928804 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,186,255 +. 19 55284882 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55284882 55284882 Chr19(GRCh37):g.55284882A>G 168 168 NM_014218.2:c.168A>G p.Glu56= p.Glu56Glu 3 604936 98 3' 80.8813 8.86552 0.902226 11.0014 80.8813 8.86552 0.902226 11.0014 0 Immunoglobulin Immunoglobulin subtype rs76075498 yes no Frequency 1 0.000000 0 0.000081 0.000096 0.000528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000174 0.000528 20 2 17 0 0 0 0 0 1 246512 20912 32168 8468 18504 27232 110806 22672 5750 0.000008 0.000000 0.000062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 18 2 15 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287231|COSM4287231 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition A G A>G 0.000 -1.086 E Glu GAA 0.417 E Glu GAG 0.583 56 230 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A168G:p.E56E . . 0.2434457 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.5013 . . . . . . . . 5.652e-05 . . . 0.0001 8.205e-05 0.0005 0 0 0 0 0 0.0001 7.01e-05 0.0005 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.923e-05 8.08e-05 0.0005 0 0 0 0 0.0002 0 0.0002 8.422e-05 0.0014 0 0 0 0 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs76075498 rs200038872 1 1538 10 1/0 0,196,250 +. (chr19:55284882 A/G) 19 55284882 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +. 19 55284882 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284882 55284882 Chr19(GRCh37):g.55284882A>G *20854 *20854 NM_001291695.1:c.*20854A>G p.? p.? 8 604953 20998 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs76075498 yes no Frequency 1 0.000000 0 0.000081 0.000096 0.000528 0.000000 0.000000 0.000000 0.000000 0.000000 0.000174 0.000528 20 2 17 0 0 0 0 0 1 246512 20912 32168 8468 18504 27232 110806 22672 5750 0.000008 0.000000 0.000062 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 18 2 15 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287231|COSM4287231 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition A G A>G 0.000 -1.086 230 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A168G:p.E56E . . 0.2434457 . . @ 65 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 267.0 . . . . . . . . . . -0.5013 . . . . . . . . 5.652e-05 . . . 0.0001 8.205e-05 0.0005 0 0 0 0 0 0.0001 7.01e-05 0.0005 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.21 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.923e-05 8.08e-05 0.0005 0 0 0 0 0.0002 0 0.0002 8.422e-05 0.0014 0 0 0 0 0 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs76075498 rs200038872 1 1538 10 1/0 0,196,250 +rs200839187 19 55284908 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284908 55284908 Chr19(GRCh37):g.55284908T>C 194 194 NM_014218.2:c.194T>C p.Met65Thr p.Met65Thr 3 604936 124 3' 80.8813 8.86552 0.902226 11.0014 80.8813 8.86552 0.902226 11.0014 0 Immunoglobulin Immunoglobulin subtype rs200839187 no no 0 0.000000 0 COSM4287232 Large intestine 0.000418 2391 transition T C T>C 0.000 -3.426 M Met ATG 1.000 T Thr ACG 0.116 65 7 1 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 C0 249.90 0.00 Tolerated 0.14 3.IX good 2.232E-2 0.01862 251 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.T194C:p.M65T . . 0.30721003 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.011 . . 319.0 . . . . . . . . . . -2.7037 -2.729 -2.704 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.060 @ . . . 0.18 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.083 0.159 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.047 . . 0.117 . . . 0.008 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.033 . . . . . 0.047 . 0.200 . HET 0.68 . . . . . . . . . . . . . II.93 . . I.24 -2.48 . 1.000000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -3.650 -3.650000 . . 1.000000 . . 1.0E-251 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 -3.650 -0.490 . . . rs200839187 rs200839187 1 1538 10 1/0 0,194,235 +rs200839187 19 55284908 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284908 55284908 Chr19(GRCh37):g.55284908T>C 194 194 NM_014219.2:c.194T>C p.Lys65Thr p.Lys65Thr 3 604937 124 3' 80.8813 8.86552 0.902226 X.71 80.8813 8.86552 0.902226 X.71 0 rs200839187 no no 0 0.000000 0 COSM4287232 Large intestine 0.000418 2391 transition T C T>C 0.000 -3.426 K Lys AAG 0.575 T Thr ACG 0.116 65 11 1 -1 -1 -1 0.33 0.71 11.III 8.VI 119 61 78 C0 140.23 22.29 Tolerated 0.68 II.83 good 1.131E-1 0.1587 251 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.T194C:p.M65T . . 0.30721003 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.011 . . 319.0 . . . . . . . . . . -2.7037 -2.729 -2.704 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.060 @ . . . 0.18 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.083 0.159 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.047 . . 0.117 . . . 0.008 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.033 . . . . . 0.047 . 0.200 . HET 0.68 . . . . . . . . . . . . . II.93 . . I.24 -2.48 . 1.000000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -3.650 -3.650000 . . 1.000000 . . 1.0E-251 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 -3.650 -0.490 . . . rs200839187 rs200839187 1 1538 10 1/0 0,194,235 +rs200839187 19 55284908 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284908 55284908 Chr19(GRCh37):g.55284908T>C *20880 *20880 NM_001291695.1:c.*20880T>C p.? p.? 8 604953 21024 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200839187 no no 0 0.000000 0 COSM4287232 Large intestine 0.000418 2391 transition T C T>C 0.000 -3.426 251 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.T194C:p.M65T . . 0.30721003 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.011 . . 319.0 . . . . . . . . . . -2.7037 -2.729 -2.704 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.060 @ . . . 0.18 0.21 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.083 0.159 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.047 . . 0.117 . . . 0.008 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.068 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.033 . . . . . 0.047 . 0.200 . HET 0.68 . . . . . . . . . . . . . II.93 . . I.24 -2.48 . 1.000000 . . . . . . 0.005 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -3.650 -3.650000 . . 1.000000 . . 1.0E-251 0.000 0.063 . 0.016 0.000 . 0.000 . 0.000 -3.650 -0.490 . . . rs200839187 rs200839187 1 1538 10 1/0 0,194,235 +rs745536485 19 55284916 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284916 55284916 Chr19(GRCh37):g.55284916G>C 202 202 NM_014218.2:c.202G>C p.Asp68His p.Asp68His 3 604936 132 3' 80.8813 8.86552 0.902226 11.0014 80.8813 8.86552 0.902226 11.0014 0 Immunoglobulin Immunoglobulin subtype transversion G C G>C 0.000 -0.360 D Asp GAC 0.539 H His CAC 0.587 68 7 2 Macaque 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 147.42 IV.81 Tolerated 0.15 3.I good 4.564E-1 0.3985 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.G202C:p.D68H . . 0.32515338 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.161 . . 326.0 . . . . . . . . . . -0.9477 -1.154 -0.948 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.177 . . 0.283 . . . 0.256 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.341 . . 0.351 . . . . . . 0 0.384 . . . . . 0.045 . 0.455 . HET 0.03 . . . . . . . . . . . . . II.44 . . I.24 -1.93 . 0.000000 . . . . . . 0.030 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -0.374 -0.374000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.068 . 0.060 -0.374 -0.180 . . . . . 1 1538 10 1/0 0,194,235 +rs745536485 19 55284916 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284916 55284916 Chr19(GRCh37):g.55284916G>C 202 202 NM_014219.2:c.202G>C p.Asp68His p.Asp68His 3 604937 132 3' 80.8813 8.86552 0.902226 X.71 80.8813 8.86552 0.902226 X.71 0 transversion G C G>C 0.000 -0.360 D Asp GAC 0.539 H His CAC 0.587 68 11 5 Philippine tarsier 0 -1 -2 I.38 0.58 13 10.IV 54 96 81 C0 149.56 13.17 Tolerated 0.14 II.83 good 2.378E-1 0.2534 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.G202C:p.D68H . . 0.32515338 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.161 . . 326.0 . . . . . . . . . . -0.9477 -1.154 -0.948 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.177 . . 0.283 . . . 0.256 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.341 . . 0.351 . . . . . . 0 0.384 . . . . . 0.045 . 0.455 . HET 0.03 . . . . . . . . . . . . . II.44 . . I.24 -1.93 . 0.000000 . . . . . . 0.030 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -0.374 -0.374000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.068 . 0.060 -0.374 -0.180 . . . . . 1 1538 10 1/0 0,194,235 +rs745536485 19 55284916 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284916 55284916 Chr19(GRCh37):g.55284916G>C *20888 *20888 NM_001291695.1:c.*20888G>C p.? p.? 8 604953 21032 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion G C G>C 0.000 -0.360 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.G202C:p.D68H . . 0.32515338 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.048 . @ . . . . . 1 0.161 . . 326.0 . . . . . . . . . . -0.9477 -1.154 -0.948 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.210 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.177 . . 0.283 . . . 0.256 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.547 . . 0 0 0 0 0 0 . 0.341 . . 0.351 . . . . . . 0 0.384 . . . . . 0.045 . 0.455 . HET 0.03 . . . . . . . . . . . . . II.44 . . I.24 -1.93 . 0.000000 . . . . . . 0.030 . . . . . . . . . . . . . . . . . . . . . . 0.196 . -0.374 -0.374000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.002 . 0.068 . 0.060 -0.374 -0.180 . . . . . 1 1538 10 1/0 0,194,235 +rs201793527 19 55284939 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55284939 55284939 Chr19(GRCh37):g.55284939A>G 225 225 NM_014218.2:c.225A>G p.Glu75= p.Glu75Glu 3 604936 -146 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs201793527 yes no Frequency 1 0.000000 0 0.000064 0.000355 0.000060 0.000000 0.000000 0.000034 0.000041 0.000040 0.000000 0.000355 17 8 2 0 0 1 5 1 0 265458 22558 33198 9464 18608 29768 120740 24960 6162 0.000008 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 15 6 2 0 0 1 5 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287234 Large intestine 0.000418 2391 transition A G A>G 0.000 -0.844 E Glu GAA 0.417 E Glu GAG 0.583 75 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A225G:p.E75E . . 0.3483146 . . @ 124 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 356.0 . . . . . . . . . . -0.4244 . . . . . . . . 8.052e-05 . . . 0.0006 9.106e-05 0 0 0 2.466e-05 0 6.269e-05 0.0005 7.763e-05 0 0 0 5.708e-05 0 6.305e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 6.291e-05 6.168e-05 0 0 4.602e-05 3.707e-05 0 3.359e-05 0.0001 7.406e-05 0 0 0 0 7.798e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201793527 rs201793527 1 1538 10 1/0 0,193,231 +rs201793527 (chr19:55284939 A/G) 19 55284939 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs201793527 19 55284939 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284939 55284939 Chr19(GRCh37):g.55284939A>G *20911 *20911 NM_001291695.1:c.*20911A>G p.? p.? 8 604953 21055 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs201793527 yes no Frequency 1 0.000000 0 0.000064 0.000355 0.000060 0.000000 0.000000 0.000034 0.000041 0.000040 0.000000 0.000355 17 8 2 0 0 1 5 1 0 265458 22558 33198 9464 18608 29768 120740 24960 6162 0.000008 0.000089 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 15 6 2 0 0 1 5 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287234 Large intestine 0.000418 2391 transition A G A>G 0.000 -0.844 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A225G:p.E75E . . 0.3483146 . . @ 124 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 356.0 . . . . . . . . . . -0.4244 . . . . . . . . 8.052e-05 . . . 0.0006 9.106e-05 0 0 0 2.466e-05 0 6.269e-05 0.0005 7.763e-05 0 0 0 5.708e-05 0 6.305e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.25 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 6.291e-05 6.168e-05 0 0 4.602e-05 3.707e-05 0 3.359e-05 0.0001 7.406e-05 0 0 0 0 7.798e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201793527 rs201793527 1 1538 10 1/0 0,193,231 +rs200854975 19 55284943 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284943 55284943 Chr19(GRCh37):g.55284943C>A 229 229 NM_014218.2:c.229C>A p.His77Asn p.His77Asn 3 604936 -142 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs200854975 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265732 22662 33206 9472 18614 29768 120862 24978 6170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287235 Large intestine 0.000418 2391 transversion C A C>A 0.000 -0.440 H His CAT 0.413 N Asn AAT 0.464 77 7 4 Mouse 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 143.20 55.04 Tolerated 0.31 3.I good 6.322E-1 0.5759 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C229A:p.H77N . . 0.33426183 . . @ 120 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.089 . . 359.0 . . . . . . . . . . -0.9005 -1.187 -0.901 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.465e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.062 @ . . . 0.24 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.349 . . 0.241 . . . 0.588 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.552 . . 0.527 . . . . . . 0 0.784 . . . . . 0.062 . 0.411 . HET 0 . . . . . . . . . . . . . III.56 . . I.24 -2.38 . 0.000000 . . . . . . 0.016 . . . 6.648e-05 1.677e-05 0 0 0 0 2.78e-05 0 0 0.0001 7.338e-05 0 0 0 0 7.733e-05 0 . . 0.196 . -0.417 -0.417000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.004 . 0.152 . 0.274 -0.417 0.567 . . . rs200854975 rs200854975 1 1538 10 1/0 0,191,231 +rs200854975 19 55284943 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284943 55284943 Chr19(GRCh37):g.55284943C>A 229 229 NM_014219.2:c.229C>A p.His77Asn p.His77Asn 3 604937 -142 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 rs200854975 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265732 22662 33206 9472 18614 29768 120862 24978 6170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287235 Large intestine 0.000418 2391 transversion C A C>A 0.000 -0.440 H His CAT 0.413 N Asn AAT 0.464 77 11 7 Horse 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 353.86 0.00 Tolerated 0.1 III.26 good 7.847E-1 0.0183 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C229A:p.H77N . . 0.33426183 . . @ 120 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.089 . . 359.0 . . . . . . . . . . -0.9005 -1.187 -0.901 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.465e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.062 @ . . . 0.24 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.349 . . 0.241 . . . 0.588 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.552 . . 0.527 . . . . . . 0 0.784 . . . . . 0.062 . 0.411 . HET 0 . . . . . . . . . . . . . III.56 . . I.24 -2.38 . 0.000000 . . . . . . 0.016 . . . 6.648e-05 1.677e-05 0 0 0 0 2.78e-05 0 0 0.0001 7.338e-05 0 0 0 0 7.733e-05 0 . . 0.196 . -0.417 -0.417000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.004 . 0.152 . 0.274 -0.417 0.567 . . . rs200854975 rs200854975 1 1538 10 1/0 0,191,231 +rs200854975 19 55284943 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284943 55284943 Chr19(GRCh37):g.55284943C>A *20915 *20915 NM_001291695.1:c.*20915C>A p.? p.? 8 604953 21059 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200854975 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265732 22662 33206 9472 18614 29768 120862 24978 6170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287235 Large intestine 0.000418 2391 transversion C A C>A 0.000 -0.440 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C229A:p.H77N . . 0.33426183 . . @ 120 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.089 . . 359.0 . . . . . . . . . . -0.9005 -1.187 -0.901 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.465e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.062 @ . . . 0.24 0.24 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.349 . . 0.241 . . . 0.588 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.791 . . 0 0 0 0 0 0 . 0.552 . . 0.527 . . . . . . 0 0.784 . . . . . 0.062 . 0.411 . HET 0 . . . . . . . . . . . . . III.56 . . I.24 -2.38 . 0.000000 . . . . . . 0.016 . . . 6.648e-05 1.677e-05 0 0 0 0 2.78e-05 0 0 0.0001 7.338e-05 0 0 0 0 7.733e-05 0 . . 0.196 . -0.417 -0.417000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.043 0.004 . 0.152 . 0.274 -0.417 0.567 . . . rs200854975 rs200854975 1 1538 10 1/0 0,191,231 +rs150190837 19 55284944 A T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284944 55284944 Chr19(GRCh37):g.55284944A>T 230 230 NM_014218.2:c.230A>T p.His77Leu p.His77Leu 3 604936 -141 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Cryptic Acceptor Strongly Activated 55284961 1.37966 0.003241 65.9586 2.29237 0.005612 65.9586 Immunoglobulin Immunoglobulin subtype rs150190837 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265836 22692 33210 9472 18618 29768 120910 25000 6166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287236 Large intestine 0.000418 2391 transversion A T A>T 0.000 -0.037 H His CAT 0.413 L Leu CTT 0.129 77 7 4 Mouse -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 C0 143.20 0.00 Tolerated 0.68 3.I good 6.096E-1 0.5759 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A230T:p.H77L . . 0.33147633 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.098 . . 359.0 . . . . . . . . . . -0.8976 -1.088 -0.898 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.464e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.134 @ . . . 0.28 0.23 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.154 . . 0.178 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.936 . . 0 0 0 0 0 0 . 0.415 . . 0.324 . . . . . . 0 0.721 . . . . . 0.088 . 0.542 . HET 0 . . . . . . . . . . . . . III.67 . . I.24 0.0214 . 0.000000 . . . . . . 0.022 . . . 6.648e-05 1.677e-05 0 0 0 0 2.779e-05 0 0 0.0001 7.314e-05 0 0 0 0 7.711e-05 0 . . 0.196 . -0.040 -0.040000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.004 . 0.085 . 0.009 -0.040 0.679 . . . rs201991631 rs201991631 1 1538 10 1/0 0,191,234 +rs150190837 19 55284944 A T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284944 55284944 Chr19(GRCh37):g.55284944A>T 230 230 NM_014219.2:c.230A>T p.His77Leu p.His77Leu 3 604937 -141 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 Cryptic Acceptor Strongly Activated 55284962 1.47276 7,00E-06 63.0543 2.06654 1.2e-05 63.0543 rs150190837 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265836 22692 33210 9472 18618 29768 120910 25000 6166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287236 Large intestine 0.000418 2391 transversion A T A>T 0.000 -0.037 H His CAT 0.413 L Leu CTT 0.129 77 11 7 Horse -2 -3 -5 0.58 0 10.IV 4.IX 96 111 99 C0 353.86 0.00 Tolerated 0.05 III.26 bad 1.347E-3 0.0183 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A230T:p.H77L . . 0.33147633 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.098 . . 359.0 . . . . . . . . . . -0.8976 -1.088 -0.898 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.464e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.134 @ . . . 0.28 0.23 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.154 . . 0.178 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.936 . . 0 0 0 0 0 0 . 0.415 . . 0.324 . . . . . . 0 0.721 . . . . . 0.088 . 0.542 . HET 0 . . . . . . . . . . . . . III.67 . . I.24 0.0214 . 0.000000 . . . . . . 0.022 . . . 6.648e-05 1.677e-05 0 0 0 0 2.779e-05 0 0 0.0001 7.314e-05 0 0 0 0 7.711e-05 0 . . 0.196 . -0.040 -0.040000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.004 . 0.085 . 0.009 -0.040 0.679 . . . rs201991631 rs201991631 1 1538 10 1/0 0,191,234 +rs150190837 19 55284944 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284944 55284944 Chr19(GRCh37):g.55284944A>T *20916 *20916 NM_001291695.1:c.*20916A>T p.? p.? 8 604953 21060 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55284961 1.37966 0.003241 65.9586 2.29237 0.005612 65.9586 rs150190837 yes no Frequency 1 0.000000 0 0.000023 0.000088 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000088 6 2 0 0 0 0 4 0 0 265836 22692 33210 9472 18618 29768 120910 25000 6166 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 2 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287236 Large intestine 0.000418 2391 transversion A T A>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.A230T:p.H77L . . 0.33147633 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.178 . @ . . . . . 1 0.098 . . 359.0 . . . . . . . . . . -0.8976 -1.088 -0.898 c . . . . . 2.414e-05 . . . 9.827e-05 2.275e-05 0 0 0 2.464e-05 0 0 0.0001 1.94e-05 0 0 0 1.902e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.134 @ . . . 0.28 0.23 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.154 . . 0.178 . . . 0.520 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.936 . . 0 0 0 0 0 0 . 0.415 . . 0.324 . . . . . . 0 0.721 . . . . . 0.088 . 0.542 . HET 0 . . . . . . . . . . . . . III.67 . . I.24 0.0214 . 0.000000 . . . . . . 0.022 . . . 6.648e-05 1.677e-05 0 0 0 0 2.779e-05 0 0 0.0001 7.314e-05 0 0 0 0 7.711e-05 0 . . 0.196 . -0.040 -0.040000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.004 . 0.085 . 0.009 -0.040 0.679 . . . rs201991631 rs201991631 1 1538 10 1/0 0,191,234 +rs530076007 19 55284962 C G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284962 55284962 Chr19(GRCh37):g.55284962C>G 248 248 NM_014218.2:c.248C>G p.Ala83Gly p.Ala83Gly 3 604936 -123 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Cryptic Acceptor Strongly Activated 55284961 1.37966 0.003241 65.9586 1.62487 0.003948 65.9586 Immunoglobulin Immunoglobulin subtype rs530076007 no no 0 0.000000 0 COSM6413671 Thyroid 0.001339 747 transversion C G C>G 0.000 0.125 A Ala GCC 0.403 G Gly GGC 0.342 83 7 5 Opossum 0 0 0 0 0.74 8.I 9 31 3 60 C0 96.19 60.00 Tolerated 0.07 3.I bad 9.967E-3 0.013 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C248G:p.A83G . . 0.3603352 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.234 . . 358.0 . . . . . . . . . . -0.9359 -1.144 -0.936 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.139 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.351 . . 0.510 . . . 0.889 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.241 . . 0.403 . . . . . . 0 0.408 . . . . . 0.083 . 0.406 . HET 0.04 . . . . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.043 0.023 . 0.180 . 0.056 0.106 0.567 . . . . . 1 1538 10 1/0 0,194,234 +rs530076007 19 55284962 C G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284962 55284962 Chr19(GRCh37):g.55284962C>G 248 248 NM_014219.2:c.248C>G p.Ala83Gly p.Ala83Gly 3 604937 -123 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 Cryptic Acceptor Strongly Activated 55284962 1.47276 7,00E-06 63.0543 3.19228 0.000179 68.8128 rs530076007 no no 0 0.000000 0 COSM6413671 Thyroid 0.001339 747 transversion C G C>G 0.000 0.125 A Ala GCC 0.403 G Gly GGC 0.342 83 11 7 Opossum 0 0 0 0 0.74 8.I 9 31 3 60 C0 109.55 0.00 Tolerated 0.19 II.83 good 6.535E-1 0.06566 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C248G:p.A83G . . 0.3603352 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.234 . . 358.0 . . . . . . . . . . -0.9359 -1.144 -0.936 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.139 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.351 . . 0.510 . . . 0.889 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.241 . . 0.403 . . . . . . 0 0.408 . . . . . 0.083 . 0.406 . HET 0.04 . . . . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.043 0.023 . 0.180 . 0.056 0.106 0.567 . . . . . 1 1538 10 1/0 0,194,234 +rs530076007 19 55284962 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284962 55284962 Chr19(GRCh37):g.55284962C>G *20934 *20934 NM_001291695.1:c.*20934C>G p.? p.? 8 604953 21078 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55284961 1.37966 0.003241 65.9586 1.62487 0.003948 65.9586 rs530076007 no no 0 0.000000 0 COSM6413671 Thyroid 0.001339 747 transversion C G C>G 0.000 0.125 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C248G:p.A83G . . 0.3603352 . . @ 129 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.151 . @ . . . . . 1 0.234 . . 358.0 . . . . . . . . . . -0.9359 -1.144 -0.936 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.205 . . exonic exonic exonic . . 0.139 @ . . . . . . ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.016 0.001 . . 37 . 0.351 . . 0.510 . . . 0.889 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.524 . . 0 0 0 0 0 0 . 0.241 . . 0.403 . . . . . . 0 0.408 . . . . . 0.083 . 0.406 . HET 0.04 . . . . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.037 . . . . . . . . . . . . . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.004 0.165 . 0.043 0.023 . 0.180 . 0.056 0.106 0.567 . . . . . 1 1538 10 1/0 0,194,234 +rs79002558 19 55284976 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284976 55284976 Chr19(GRCh37):g.55284976A>G 262 262 NM_014218.2:c.262A>G p.Ser88Gly p.Ser88Gly 3 604936 -109 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs79002558 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000800 0.000000 0.001000 0.002000 0.000000 0.000906 0.000737 0.000361 0.000000 0.001396 0.000000 0.001496 0.000080 0.000482 0.001496 242 17 12 0 26 0 182 2 3 267194 23076 33256 9494 18630 29770 121656 25094 6218 0.000284 0.000260 0.000241 0.000000 0.000322 0.000000 0.000460 0.000000 0.000000 38 3 4 0 3 0 28 0 0 166 11 4 0 20 0 126 2 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132534|COSM4132534 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition A G A>G 0.000 -0.360 S Ser AGT 0.149 G Gly GGT 0.162 88 7 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 103.83 0.00 Tolerated 1 3.I good 9.063E-1 0.08213 255 PASS . . . . . 0.0008 0.0008 . 0.001 0.002 . . . KIR2DL1:NM_014218:exon3:c.A262G:p.S88G . . 0.37127373 . . @ 137 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.020 . . 369.0 . . . . . . . . . . -1.7661 -1.747 -1.766 c . . . . . 8.431e-04 . . . 0.0014 0.0010 0.0004 0.0014 0.0003 0.0014 0.0015 0 0.0011 0.0008 0.0004 0.0012 0.0003 0.0010 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . 0.139 0.0008 . . . 0.27 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . 45 0.000692563 64976 41 0.000683493 59986 Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.049 . . 0.370 . . . 0.008 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.093 . 0.263 . HET 1 . . 0.007 . . . . . . . . . . 4.0618 8.13E-4 . I.24 0.111 . 1.000000 . . . . . . 0.001 . . . 0.0010 0.0009 0.0004 0 0.0013 9.197e-05 0.0015 0.0006 0 0.0002 0.0009 0 0 0.0019 0 0.0016 0 . . 0.196 . -0.288 -0.288000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.085 . 0.000 -0.288 -2.168 . . . rs79002558 rs200302241 1 1538 10 1/0 0,194,233 +rs79002558 (chr19:55284976 A/G) 19 55284976 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs79002558 19 55284976 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284976 55284976 Chr19(GRCh37):g.55284976A>G *20948 *20948 NM_001291695.1:c.*20948A>G p.? p.? 8 604953 21092 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs79002558 yes no Frequency/1000G 2 0.000000 0 0.000799 0.000800 0.000000 0.001000 0.002000 0.000000 0.000906 0.000737 0.000361 0.000000 0.001396 0.000000 0.001496 0.000080 0.000482 0.001496 242 17 12 0 26 0 182 2 3 267194 23076 33256 9494 18630 29770 121656 25094 6218 0.000284 0.000260 0.000241 0.000000 0.000322 0.000000 0.000460 0.000000 0.000000 38 3 4 0 3 0 28 0 0 166 11 4 0 20 0 126 2 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132534|COSM4132534 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition A G A>G 0.000 -0.360 255 PASS . . . . . 0.0008 0.0008 . 0.001 0.002 . . . KIR2DL1:NM_014218:exon3:c.A262G:p.S88G . . 0.37127373 . . @ 137 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.020 . . 369.0 . . . . . . . . . . -1.7661 -1.747 -1.766 c . . . . . 8.431e-04 . . . 0.0014 0.0010 0.0004 0.0014 0.0003 0.0014 0.0015 0 0.0011 0.0008 0.0004 0.0012 0.0003 0.0010 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . 0.139 0.0008 . . . 0.27 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . 45 0.000692563 64976 41 0.000683493 59986 Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.049 . . 0.370 . . . 0.008 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.093 . 0.263 . HET 1 . . 0.007 . . . . . . . . . . 4.0618 8.13E-4 . I.24 0.111 . 1.000000 . . . . . . 0.001 . . . 0.0010 0.0009 0.0004 0 0.0013 9.197e-05 0.0015 0.0006 0 0.0002 0.0009 0 0 0.0019 0 0.0016 0 . . 0.196 . -0.288 -0.288000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.085 . 0.000 -0.288 -2.168 . . . rs79002558 rs200302241 1 1538 10 1/0 0,194,233 +rs687485 19 55284986 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55284986 55284986 Chr19(GRCh37):g.55284986C>A 272 272 NM_014218.2:c.272C>A p.Thr91Lys p.Thr91Lys 3 604936 -99 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs687485 yes no Frequency 1 0.000000 0 0.000038 0.000466 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000466 9 7 0 0 0 0 2 0 0 238752 15024 32470 9220 17066 29776 108146 21748 5302 0.333333 0.285714 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM5712917|COSM5712917|COSM5712917 Lung|Central nervous system|Breast 0.000419|0.001247|0.000408 2388|2405|2453 transversion C A C>A 0.000 0.125 T Thr ACG 0.116 K Lys AAG 0.575 91 7 4 Cow -1 -1 -1 0.71 0.33 8.VI 11.III 61 119 78 C0 176.19 8.XI Tolerated 0.48 3.I bad 8.834E-5 0.2867 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C272A:p.T91K . . 0.31880108 . . @ 117 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.274 . @ . . . . . 1 0.123 . . 367.0 . . . . . . . . . . -0.9601 -1.162 -0.960 c . . . . . 2.087e-04 . . . 0.0004 4.546e-05 0 0 0 0 0 0 0.0003 3.876e-05 0 0 0 1.9e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.264 . . exonic exonic exonic . . 0.139 @ . . . 0.29 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.294 . . 0.141 . . . 0.236 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.568 . . 0.584 . . . . . . 0 0.337 . . . . . 0.083 . 0.484 . HET 0.03 . 0.120 0.159 . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.023 . . . 0.0005 3.77e-05 0 0 0 0 1.849e-05 0 0 . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.028 . 0.001 0.106 -1.705 0.12 rs687485 rs687485 rs687485 rs117204680 1 1538 10 1/0 0,191,249 +rs687485 19 55284986 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284986 55284986 Chr19(GRCh37):g.55284986C>A 272 272 NM_014219.2:c.272C>A p.Met91Lys p.Met91Lys 3 604937 -99 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 New Acceptor Site 55284988 2.03467 2.7e-05 67.1402 rs687485 yes no Frequency 1 0.000000 0 0.000038 0.000466 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000466 9 7 0 0 0 0 2 0 0 238752 15024 32470 9220 17066 29776 108146 21748 5302 0.333333 0.285714 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM5712917|COSM5712917|COSM5712917 Lung|Central nervous system|Breast 0.000419|0.001247|0.000408 2388|2405|2453 transversion C A C>A 0.000 0.125 M Met ATG 1.000 K Lys AAG 0.575 91 11 3 Orangutan -1 -1 -3 0 0.33 5.VII 11.III 105 119 95 C0 168.08 8.XI Tolerated 0.92 II.83 good 2.483E-1 0.3595 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C272A:p.T91K . . 0.31880108 . . @ 117 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.274 . @ . . . . . 1 0.123 . . 367.0 . . . . . . . . . . -0.9601 -1.162 -0.960 c . . . . . 2.087e-04 . . . 0.0004 4.546e-05 0 0 0 0 0 0 0.0003 3.876e-05 0 0 0 1.9e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.264 . . exonic exonic exonic . . 0.139 @ . . . 0.29 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.294 . . 0.141 . . . 0.236 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.568 . . 0.584 . . . . . . 0 0.337 . . . . . 0.083 . 0.484 . HET 0.03 . 0.120 0.159 . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.023 . . . 0.0005 3.77e-05 0 0 0 0 1.849e-05 0 0 . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.028 . 0.001 0.106 -1.705 0.12 rs687485 rs687485 rs687485 rs117204680 1 1538 10 1/0 0,191,249 +rs687485 19 55284986 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284986 55284986 Chr19(GRCh37):g.55284986C>A *20958 *20958 NM_001291695.1:c.*20958C>A p.? p.? 8 604953 21102 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs687485 yes no Frequency 1 0.000000 0 0.000038 0.000466 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000466 9 7 0 0 0 0 2 0 0 238752 15024 32470 9220 17066 29776 108146 21748 5302 0.333333 0.285714 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 69 Exomes COSM5712917|COSM5712917|COSM5712917 Lung|Central nervous system|Breast 0.000419|0.001247|0.000408 2388|2405|2453 transversion C A C>A 0.000 0.125 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon3:c.C272A:p.T91K . . 0.31880108 . . @ 117 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.274 . @ . . . . . 1 0.123 . . 367.0 . . . . . . . . . . -0.9601 -1.162 -0.960 c . . . . . 2.087e-04 . . . 0.0004 4.546e-05 0 0 0 0 0 0 0.0003 3.876e-05 0 0 0 1.9e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.264 . . exonic exonic exonic . . 0.139 @ . . . 0.29 0.25 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.294 . . 0.141 . . . 0.236 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.666 . . 0 0 0 0 0 0 . 0.568 . . 0.584 . . . . . . 0 0.337 . . . . . 0.083 . 0.484 . HET 0.03 . 0.120 0.159 . . . . . . . . . . 3.815 . . I.24 0.116 . 0.000000 . . . . . . 0.023 . . . 0.0005 3.77e-05 0 0 0 0 1.849e-05 0 0 . . . . . . . . . . 0.196 . 0.106 0.106000 . . 0.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.028 . 0.001 0.106 -1.705 0.12 rs687485 rs687485 rs687485 rs117204680 1 1538 10 1/0 0,191,249 +rs74415453 19 55284987 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55284987 55284987 Chr19(GRCh37):g.55284987G>A 273 273 NM_014218.2:c.273G>A p.Thr91= p.Thr91Thr 3 604936 -98 5' 86.1807 6.94726 0.802561 9.97535 86.1807 6.94726 0.802561 9.97535 0 Immunoglobulin Immunoglobulin subtype rs74415453 yes no Frequency/1000G 2 0.000000 0 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000187 0.000346 0.000090 0.000000 0.000107 0.000907 0.000082 0.000000 0.000000 0.000907 50 8 3 0 2 27 10 0 0 267370 23152 33270 9494 18644 29772 121728 25088 6222 0.000045 0.000173 0.000060 0.000000 0.000000 0.000067 0.000033 0.000000 0.000000 6 2 1 0 0 1 2 0 0 38 4 1 0 2 25 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287238|COSM4287238 Thyroid|Liver 0.001339|0.000844 747|2371 transition G A G>A 0.000 -1.409 T Thr ACG 0.116 T Thr ACA 0.280 91 255 PASS . 0. . . . 0.0015 0.0004 . . . . . . KIR2DL1:NM_014218:exon3:c.G273A:p.T91T . . 0.3852459 . . @ 141 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 366.0 . . . . . . . . . . -0.5625 . . . . . . . . 2.007e-04 . . . 0.0003 0.0003 0.0002 0.0002 0 4.921e-05 0 0.0009 0.0003 0.0002 0.0002 0.0003 0 5.699e-05 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.25 0.22 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 9.238e-05 0 0.0001 0 6.478e-05 0 0.0009 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs74415453 rs202151900 1 1538 10 1/0 0,196,233 +rs74415453 19 55284987 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55284987 55284987 Chr19(GRCh37):g.55284987G>A 273 273 NM_014219.2:c.273G>A p.Met91Ile p.Met91Ile 3 604937 -98 5' 90.3087 9.21919 0.949251 8.41567 90.3087 9.21919 0.949251 8.41567 0 rs74415453 yes no Frequency/1000G 2 0.000000 0 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000187 0.000346 0.000090 0.000000 0.000107 0.000907 0.000082 0.000000 0.000000 0.000907 50 8 3 0 2 27 10 0 0 267370 23152 33270 9494 18644 29772 121728 25088 6222 0.000045 0.000173 0.000060 0.000000 0.000000 0.000067 0.000033 0.000000 0.000000 6 2 1 0 0 1 2 0 0 38 4 1 0 2 25 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287238|COSM4287238 Thyroid|Liver 0.001339|0.000844 747|2371 transition G A G>A 0.000 -1.409 M Met ATG 1.000 I Ile ATA 0.163 91 11 3 Orangutan 2 1 2 0 0 5.VII 5.II 105 111 10 C0 168.08 0.00 Tolerated 0.27 II.83 good 4.315E-1 0.3595 255 PASS . 0. . . . 0.0015 0.0004 . . . . . . KIR2DL1:NM_014218:exon3:c.G273A:p.T91T . . 0.3852459 . . @ 141 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 366.0 . . . . . . . . . . -0.5625 . . . . . . . . 2.007e-04 . . . 0.0003 0.0003 0.0002 0.0002 0 4.921e-05 0 0.0009 0.0003 0.0002 0.0002 0.0003 0 5.699e-05 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.25 0.22 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 9.238e-05 0 0.0001 0 6.478e-05 0 0.0009 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs74415453 rs202151900 1 1538 10 1/0 0,196,233 +rs74415453 19 55284987 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55284987 55284987 Chr19(GRCh37):g.55284987G>A *20959 *20959 NM_001291695.1:c.*20959G>A p.? p.? 8 604953 21103 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs74415453 yes no Frequency/1000G 2 0.000000 0 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000187 0.000346 0.000090 0.000000 0.000107 0.000907 0.000082 0.000000 0.000000 0.000907 50 8 3 0 2 27 10 0 0 267370 23152 33270 9494 18644 29772 121728 25088 6222 0.000045 0.000173 0.000060 0.000000 0.000000 0.000067 0.000033 0.000000 0.000000 6 2 1 0 0 1 2 0 0 38 4 1 0 2 25 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4287238|COSM4287238 Thyroid|Liver 0.001339|0.000844 747|2371 transition G A G>A 0.000 -1.409 255 PASS . 0. . . . 0.0015 0.0004 . . . . . . KIR2DL1:NM_014218:exon3:c.G273A:p.T91T . . 0.3852459 . . @ 141 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 366.0 . . . . . . . . . . -0.5625 . . . . . . . . 2.007e-04 . . . 0.0003 0.0003 0.0002 0.0002 0 4.921e-05 0 0.0009 0.0003 0.0002 0.0002 0.0003 0 5.699e-05 0 0.0009 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . 0.25 0.22 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 9.238e-05 0 0.0001 0 6.478e-05 0 0.0009 0.0006 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs74415453 rs202151900 1 1538 10 1/0 0,196,233 +rs574769826 19 55286677 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286677 55286677 Chr19(GRCh37):g.55286677A>G 431 431 NM_014218.2:c.431A>G p.Asn144Ser p.Asn144Ser 4 604936 61 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0105 0 Immunoglobulin Immunoglobulin subtype rs574769826 yes no Frequency/1000G 2 0.010184 G 51 0.010184 0.003000 0.034800 0.003000 0.004000 0.008600 0.000041 0.000000 0.000096 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000096 10 0 3 0 0 0 7 0 0 242466 19966 31246 8440 18314 24656 110784 23546 5514 0.000025 0.000000 0.000064 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 3 0 1 0 0 0 2 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4132535|COSM4132535 Thyroid|Central nervous system 0.005355|0.000416 747|2405 transition A G A>G 0.063 -0.037 N Asn AAT 0.464 S Ser AGT 0.149 144 7 4 Cow 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 96.23 0.00 Tolerated 0.87 3.I good 5.869E-1 0.02409 240 PASS . . . . . 0.003 0.01 0.0086 0.003 0.004 0.035 . . KIR2DL1:NM_014218:exon4:c.A431G:p.N144S . . 0.27235773 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.018 . . 246.0 . . . . . . . . . . -1.4689 -1.562 -1.469 c . . . . . 1.012e-04 . . . 0 0.0001 0.0002 0.0002 0 0.0002 0 0 0 0.0001 0.0002 0.0001 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.164 . . exonic exonic exonic . . 0.132 0.0102 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.113 . . 0.361 . . . 0.389 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.597 . . 0 0 0 0 0 0 . 0.067 . . 0.133 . . . . . . 0 0.056 . . . . . 0.062 . 0.296 . HET 0.48 . . . . . . . . . . . . . 3.203 . . 1.I -0.0225 . 0.340000 . . . . . . 0.020 . . . 0 4.587e-05 9.83e-05 0 0 0 7.047e-05 0 0 0 0 0 0 0 0 0 0 . . 0.133 . -0.053 -0.053000 . . 0.340000 . . 1.0E-240 0.003 0.159 . 0.062 0.454 . 0.133 . 0.069 -0.053 0.679 . . . . . 1 1538 10 1/0 0,201,244 +rs574769826 (chr19:55286677 A/G) 19 55286677 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs574769826 19 55286677 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286677 55286677 Chr19(GRCh37):g.55286677A>G *22649 *22649 NM_001291695.1:c.*22649A>G p.? p.? 8 604953 22793 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs574769826 yes no Frequency/1000G 2 0.010184 G 51 0.010184 0.003000 0.034800 0.003000 0.004000 0.008600 0.000041 0.000000 0.000096 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000096 10 0 3 0 0 0 7 0 0 242466 19966 31246 8440 18314 24656 110784 23546 5514 0.000025 0.000000 0.000064 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 3 0 1 0 0 0 2 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4132535|COSM4132535 Thyroid|Central nervous system 0.005355|0.000416 747|2405 transition A G A>G 0.063 -0.037 240 PASS . . . . . 0.003 0.01 0.0086 0.003 0.004 0.035 . . KIR2DL1:NM_014218:exon4:c.A431G:p.N144S . . 0.27235773 . . @ 67 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.012 . @ . . . . . 1 0.018 . . 246.0 . . . . . . . . . . -1.4689 -1.562 -1.469 c . . . . . 1.012e-04 . . . 0 0.0001 0.0002 0.0002 0 0.0002 0 0 0 0.0001 0.0002 0.0001 0 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.164 . . exonic exonic exonic . . 0.132 0.0102 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.113 . . 0.361 . . . 0.389 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.597 . . 0 0 0 0 0 0 . 0.067 . . 0.133 . . . . . . 0 0.056 . . . . . 0.062 . 0.296 . HET 0.48 . . . . . . . . . . . . . 3.203 . . 1.I -0.0225 . 0.340000 . . . . . . 0.020 . . . 0 4.587e-05 9.83e-05 0 0 0 7.047e-05 0 0 0 0 0 0 0 0 0 0 . . 0.133 . -0.053 -0.053000 . . 0.340000 . . 1.0E-240 0.003 0.159 . 0.062 0.454 . 0.133 . 0.069 -0.053 0.679 . . . . . 1 1538 10 1/0 0,201,244 +rs540306776 19 55286678 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286678 55286678 Chr19(GRCh37):g.55286678T>C 432 432 NM_014218.2:c.432T>C p.Asn144= p.Asn144Asn 4 604936 62 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.2788 0 Immunoglobulin Immunoglobulin subtype rs540306776 yes no Frequency/1000G 2 0.000000 0 0.010184 0.003000 0.034800 0.003000 0.004000 0.008600 0.000049 0.000100 0.000096 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000100 12 2 3 0 0 0 7 0 0 242476 19970 31250 8438 18316 24660 110782 23554 5506 0.000033 0.000100 0.000064 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 4 1 1 0 0 0 2 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM2885456 Thyroid 0.005355 747 transition T C T>C 0.055 -1.732 N Asn AAT 0.464 N Asn AAC 0.536 144 255 PASS . . . . . 0.003 0.01 0.0086 0.003 0.004 0.035 . . KIR2DL1:NM_014218:exon4:c.T432C:p.N144N . . 0.34306568 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 274.0 . . . . . . . . . . -0.8276 . . . . . . . . 9.280e-05 . . . 0 0.0001 0.0002 0.0002 0 0.0001 0 0 0 0.0001 0.0002 0.0001 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0102 . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 5.504e-05 9.829e-05 0 0 0 7.046e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,201,229 +rs540306776 (chr19:55286678 T/C) 19 55286678 T C Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs540306776 19 55286678 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286678 55286678 Chr19(GRCh37):g.55286678T>C *22650 *22650 NM_001291695.1:c.*22650T>C p.? p.? 8 604953 22794 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs540306776 yes no Frequency/1000G 2 0.000000 0 0.010184 0.003000 0.034800 0.003000 0.004000 0.008600 0.000049 0.000100 0.000096 0.000000 0.000000 0.000000 0.000063 0.000000 0.000000 0.000100 12 2 3 0 0 0 7 0 0 242476 19970 31250 8438 18316 24660 110782 23554 5506 0.000033 0.000100 0.000064 0.000000 0.000000 0.000000 0.000036 0.000000 0.000000 4 1 1 0 0 0 2 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM2885456 Thyroid 0.005355 747 transition T C T>C 0.055 -1.732 255 PASS . . . . . 0.003 0.01 0.0086 0.003 0.004 0.035 . . KIR2DL1:NM_014218:exon4:c.T432C:p.N144N . . 0.34306568 . . @ 94 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 274.0 . . . . . . . . . . -0.8276 . . . . . . . . 9.280e-05 . . . 0 0.0001 0.0002 0.0002 0 0.0001 0 0 0 0.0001 0.0002 0.0001 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0102 . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 5.504e-05 9.829e-05 0 0 0 7.046e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,201,229 +rs199868260 19 55286700 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286700 55286700 Chr19(GRCh37):g.55286700C>A 454 454 NM_014218.2:c.454C>A p.Arg152= p.Arg152Arg 4 604936 84 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype transversion C A C>A 0.000 -1.409 R Arg CGG 0.207 R Arg AGG 0.207 152 175 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C454A:p.R152R . . 0.10285714 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 350.0 . . . . . . . . . . -0.5326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0429 . . . 0.24 0.35 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +rs199868260 19 55286700 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286700 55286700 Chr19(GRCh37):g.55286700C>A 454 454 NM_014219.2:c.454C>A p.Arg152= p.Arg152Arg 4 604937 84 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 transversion C A C>A 0.000 -1.409 R Arg CGG 0.207 R Arg AGG 0.207 152 175 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C454A:p.R152R . . 0.10285714 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 350.0 . . . . . . . . . . -0.5326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0429 . . . 0.24 0.35 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +rs199868260 19 55286700 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286700 55286700 Chr19(GRCh37):g.55286700C>A *22672 *22672 NM_001291695.1:c.*22672C>A p.? p.? 8 604953 22816 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion C A C>A 0.000 -1.409 175 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C454A:p.R152R . . 0.10285714 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 350.0 . . . . . . . . . . -0.5326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0429 . . . 0.24 0.35 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +rs765401207 19 55286708 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286708 55286708 Chr19(GRCh37):g.55286708C>A 462 462 NM_014218.2:c.462C>A p.Ser154= p.Ser154Ser 4 604936 92 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype transversion C A C>A 0.000 -1.328 S Ser TCC 0.220 S Ser TCA 0.148 154 179 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C462A:p.S154S . . 0.11021505 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 372.0 . . . . . . . . . . -0.7058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +rs765401207 19 55286708 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286708 55286708 Chr19(GRCh37):g.55286708C>A 462 462 NM_014219.2:c.462C>A p.Ser154= p.Ser154Ser 4 604937 92 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 transversion C A C>A 0.000 -1.328 S Ser TCC 0.220 S Ser TCA 0.148 154 179 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C462A:p.S154S . . 0.11021505 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 372.0 . . . . . . . . . . -0.7058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +rs765401207 19 55286708 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286708 55286708 Chr19(GRCh37):g.55286708C>A *22680 *22680 NM_001291695.1:c.*22680C>A p.? p.? 8 604953 22824 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion C A C>A 0.000 -1.328 179 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C462A:p.S154S . . 0.11021505 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 372.0 . . . . . . . . . . -0.7058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,170,255 +. 19 55286710 A T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286710 55286710 Chr19(GRCh37):g.55286710A>T 464 464 NM_014218.2:c.464A>T p.Tyr155Phe p.Tyr155Phe 4 604936 94 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype transversion A T A>T 0.000 -0.924 Y Tyr TAT 0.438 F Phe TTT 0.454 155 7 2 Opossum 3 3 4 0.2 0 6.II 5.II 136 132 22 C0 97.45 0.00 Tolerated 1 3.I good 9.8E-1 0.06224 169 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A464T:p.Y155F . . 0.105714284 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.020 . . 350.0 . . . . . . . . . . -1.8574 -1.915 -1.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.200 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.068 . . 0.366 . . . 0.013 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.119 . . 0.145 . . . . . . 0 0.150 . . . . . 0.032 . 0.309 . LowAF 0.76 . . . . . . . . . . . . . I.91 . . 1.I -2.21 . 0.680000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.948 -0.948000 . . 0.680000 . . 1.0E-169 0.001 0.137 . 0.074 0.018 . 0.066 . 0.045 -0.948 -1.238 . . . . . 1 1538 10 1/0 0,173,255 +. 19 55286710 A T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286710 55286710 Chr19(GRCh37):g.55286710A>T 464 464 NM_014219.2:c.464A>T p.Tyr155Phe p.Tyr155Phe 4 604937 94 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 transversion A T A>T 0.000 -0.924 Y Tyr TAT 0.438 F Phe TTT 0.454 155 11 3 Opossum 3 3 4 0.2 0 6.II 5.II 136 132 22 C0 262.28 0.00 Tolerated 0.85 II.83 good 9.847E-1 0.1253 169 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A464T:p.Y155F . . 0.105714284 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.020 . . 350.0 . . . . . . . . . . -1.8574 -1.915 -1.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.200 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.068 . . 0.366 . . . 0.013 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.119 . . 0.145 . . . . . . 0 0.150 . . . . . 0.032 . 0.309 . LowAF 0.76 . . . . . . . . . . . . . I.91 . . 1.I -2.21 . 0.680000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.948 -0.948000 . . 0.680000 . . 1.0E-169 0.001 0.137 . 0.074 0.018 . 0.066 . 0.045 -0.948 -1.238 . . . . . 1 1538 10 1/0 0,173,255 +. 19 55286710 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286710 55286710 Chr19(GRCh37):g.55286710A>T *22682 *22682 NM_001291695.1:c.*22682A>T p.? p.? 8 604953 22826 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion A T A>T 0.000 -0.924 169 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A464T:p.Y155F . . 0.105714284 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.020 . . 350.0 . . . . . . . . . . -1.8574 -1.915 -1.857 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.200 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.068 . . 0.366 . . . 0.013 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.119 . . 0.145 . . . . . . 0 0.150 . . . . . 0.032 . 0.309 . LowAF 0.76 . . . . . . . . . . . . . I.91 . . 1.I -2.21 . 0.680000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.948 -0.948000 . . 0.680000 . . 1.0E-169 0.001 0.137 . 0.074 0.018 . 0.066 . 0.045 -0.948 -1.238 . . . . . 1 1538 10 1/0 0,173,255 +rs377359808 19 55286735 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286735 55286735 Chr19(GRCh37):g.55286735A>G 489 489 NM_014218.2:c.489A>G p.Glu163= p.Glu163Glu 4 604936 119 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype rs377359808 yes no Frequency/1000G 2 0.000000 0 0.054713 0.038600 0.126800 0.016900 0.049700 0.046100 0.000045 0.000146 0.000000 0.000000 0.000059 0.000279 0.000000 0.000000 0.000000 0.000279 10 2 0 0 1 7 0 0 0 221898 13714 31152 8432 16910 25078 100962 20796 4854 0.200000 0.500000 0.000000 0.000000 0.000000 0.142857 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 6 0 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes transition A G A>G 0.000 -3.991 E Glu GAA 0.417 E Glu GAG 0.583 163 194 PASS . . . . . 0.039 0.055 0.046 0.017 0.05 0.13 . . KIR2DL1:NM_014218:exon4:c.A489G:p.E163E . . 0.14320388 . . @ 59 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 412.0 . . . . . . . . . . -1.1132 . . . . . . . . 9.291e-05 . . . 0.0002 9.99e-05 0 0.0002 0 0 0 0.0004 0.0003 8.441e-05 0 0.0001 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0547 . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.507e-05 0 0 5.914e-05 0 0 0 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs377359808 rs377359808 1 1538 10 1/0 0,169,255 +rs377359808 (chr19:55286735 A/G) 19 55286735 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs377359808 19 55286735 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286735 55286735 Chr19(GRCh37):g.55286735A>G *22707 *22707 NM_001291695.1:c.*22707A>G p.? p.? 8 604953 22851 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs377359808 yes no Frequency/1000G 2 0.000000 0 0.054713 0.038600 0.126800 0.016900 0.049700 0.046100 0.000045 0.000146 0.000000 0.000000 0.000059 0.000279 0.000000 0.000000 0.000000 0.000279 10 2 0 0 1 7 0 0 0 221898 13714 31152 8432 16910 25078 100962 20796 4854 0.200000 0.500000 0.000000 0.000000 0.000000 0.142857 0.000000 0.000000 0.000000 2 1 0 0 0 1 0 0 0 6 0 0 0 1 5 0 0 0 0 0 0 0 0 0 0 0 0 PASS 73 Exomes transition A G A>G 0.000 -3.991 194 PASS . . . . . 0.039 0.055 0.046 0.017 0.05 0.13 . . KIR2DL1:NM_014218:exon4:c.A489G:p.E163E . . 0.14320388 . . @ 59 . . 1.2.2016 1 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 412.0 . . . . . . . . . . -1.1132 . . . . . . . . 9.291e-05 . . . 0.0002 9.99e-05 0 0.0002 0 0 0 0.0004 0.0003 8.441e-05 0 0.0001 0 0 0 0.0004 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0547 . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 4.507e-05 0 0 5.914e-05 0 0 0 0.0003 . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs377359808 rs377359808 1 1538 10 1/0 0,169,255 +rs373043299 19 55286739 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286739 55286739 Chr19(GRCh37):g.55286739G>A 493 493 NM_014218.2:c.493G>A p.Glu165Lys p.Glu165Lys 4 604936 123 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype rs373043299 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000125 0.000819 0.000000 0.000000 0.000000 0.000000 0.000115 0.000000 0.000176 0.000819 31 17 0 0 0 0 13 0 1 247918 20756 31888 8678 18452 25078 113394 23982 5690 0.000065 0.000385 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 8 4 0 0 0 0 4 0 0 15 9 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8000 4107 12107 0 3 3 0 0.000729927 0.000247729 0 0.000729927 0.000247729 86 COSM3797519 Urinary tract 0.001488 672 transition G A G>A 0.000 0.932 E Glu GAG 0.583 K Lys AAG 0.575 165 7 2 Macaque 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 128.24 0.00 Tolerated 1 3.I good 8.766E-1 0.5687 175 PASS . . . . . 0.0008 0.0002 . . . . . . KIR2DL1:NM_014218:exon4:c.G493A:p.E165K . . 0.114164904 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.255 . @ . . . . . 1 0.451 . . 473.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . -0.7432 -0.937 -0.743 c . . . . . 1.605e-04 . . . 0.0014 0.0002 0 0 0 8.004e-05 0 0 0.0014 0.0002 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.195 0.0002 . . . 0.23 0.31 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.172 . . 0.226 . . . 0.304 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.408 . . 0 0 0 0 0 0 . 0.409 . . 0.338 . . . . . . 0 0.555 . . . . . 0.165 . 0.407 . LowAF 0.01 . . . . . . . ID\x3dCOSM3797519\x3bOCCURENCE\x3d1(urinary_tract) . . . . . V.29 2.87E-4 . 1.I 1.I . 0.000000 . . . . 0.000248 . 0.026 . . . 0.0012 0.0001 0 0 0 0 9.897e-05 0 0 0 0.0002 0 0 0 0 0.0002 0.0012 . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-175 0.008 0.178 . 0.016 0.027 . 0.188 . 0.276 0.924 -0.180 0.0007 . . rs373043299 rs373043299 1 1538 10 1/0 0,160,255 +rs373043299 19 55286739 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286739 55286739 Chr19(GRCh37):g.55286739G>A 493 493 NM_014219.2:c.493G>A p.Glu165Lys p.Glu165Lys 4 604937 123 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 rs373043299 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000125 0.000819 0.000000 0.000000 0.000000 0.000000 0.000115 0.000000 0.000176 0.000819 31 17 0 0 0 0 13 0 1 247918 20756 31888 8678 18452 25078 113394 23982 5690 0.000065 0.000385 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 8 4 0 0 0 0 4 0 0 15 9 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8000 4107 12107 0 3 3 0 0.000729927 0.000247729 0 0.000729927 0.000247729 86 COSM3797519 Urinary tract 0.001488 672 transition G A G>A 0.000 0.932 E Glu GAG 0.583 K Lys AAG 0.575 165 11 4 Horse 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 353.86 0.00 Tolerated 0.89 II.93 good 8.168E-1 0.6917 175 PASS . . . . . 0.0008 0.0002 . . . . . . KIR2DL1:NM_014218:exon4:c.G493A:p.E165K . . 0.114164904 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.255 . @ . . . . . 1 0.451 . . 473.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . -0.7432 -0.937 -0.743 c . . . . . 1.605e-04 . . . 0.0014 0.0002 0 0 0 8.004e-05 0 0 0.0014 0.0002 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.195 0.0002 . . . 0.23 0.31 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.172 . . 0.226 . . . 0.304 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.408 . . 0 0 0 0 0 0 . 0.409 . . 0.338 . . . . . . 0 0.555 . . . . . 0.165 . 0.407 . LowAF 0.01 . . . . . . . ID\x3dCOSM3797519\x3bOCCURENCE\x3d1(urinary_tract) . . . . . V.29 2.87E-4 . 1.I 1.I . 0.000000 . . . . 0.000248 . 0.026 . . . 0.0012 0.0001 0 0 0 0 9.897e-05 0 0 0 0.0002 0 0 0 0 0.0002 0.0012 . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-175 0.008 0.178 . 0.016 0.027 . 0.188 . 0.276 0.924 -0.180 0.0007 . . rs373043299 rs373043299 1 1538 10 1/0 0,160,255 +rs373043299 19 55286739 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286739 55286739 Chr19(GRCh37):g.55286739G>A *22711 *22711 NM_001291695.1:c.*22711G>A p.? p.? 8 604953 22855 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs373043299 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000125 0.000819 0.000000 0.000000 0.000000 0.000000 0.000115 0.000000 0.000176 0.000819 31 17 0 0 0 0 13 0 1 247918 20756 31888 8678 18452 25078 113394 23982 5690 0.000065 0.000385 0.000000 0.000000 0.000000 0.000000 0.000071 0.000000 0.000000 8 4 0 0 0 0 4 0 0 15 9 0 0 0 0 5 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8000 4107 12107 0 3 3 0 0.000729927 0.000247729 0 0.000729927 0.000247729 86 COSM3797519 Urinary tract 0.001488 672 transition G A G>A 0.000 0.932 175 PASS . . . . . 0.0008 0.0002 . . . . . . KIR2DL1:NM_014218:exon4:c.G493A:p.E165K . . 0.114164904 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.255 . @ . . . . . 1 0.451 . . 473.0 . . . 0.0007 0.0002 . 0.0007 0.0002 . . -0.7432 -0.937 -0.743 c . . . . . 1.605e-04 . . . 0.0014 0.0002 0 0 0 8.004e-05 0 0 0.0014 0.0002 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.161 . . exonic exonic exonic . . 0.195 0.0002 . . . 0.23 0.31 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.172 . . 0.226 . . . 0.304 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.408 . . 0 0 0 0 0 0 . 0.409 . . 0.338 . . . . . . 0 0.555 . . . . . 0.165 . 0.407 . LowAF 0.01 . . . . . . . ID\x3dCOSM3797519\x3bOCCURENCE\x3d1(urinary_tract) . . . . . V.29 2.87E-4 . 1.I 1.I . 0.000000 . . . . 0.000248 . 0.026 . . . 0.0012 0.0001 0 0 0 0 9.897e-05 0 0 0 0.0002 0 0 0 0 0.0002 0.0012 . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-175 0.008 0.178 . 0.016 0.027 . 0.188 . 0.276 0.924 -0.180 0.0007 . . rs373043299 rs373043299 1 1538 10 1/0 0,160,255 +. 19 55286740 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286740 55286740 Chr19(GRCh37):g.55286740A>G 494 494 NM_014218.2:c.494A>G p.Glu165Gly p.Glu165Gly 4 604936 124 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Immunoglobulin Immunoglobulin subtype transition A G A>G 0.000 -1.893 E Glu GAG 0.583 G Gly GGG 0.250 165 7 2 Macaque -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 128.24 81.06 Tolerated 0.28 3.I good 6.28E-2 0.5687 191 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A494G:p.E165G . . 0.13646533 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.066 . . 447.0 . . . . . . . . . . -1.9942 -2.102 -1.994 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.092 . . 0.275 . . . 0.086 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.729 . . 0 0 0 0 0 0 . 0.188 . . 0.162 . . . . . . 0 0.144 . . . . . 0.038 . 0.314 . LowAF 0.28 . . . . . . . . . . . . . II.38 . . 1.I -2.21 . 0.200000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.051 -2.051000 . . 0.200000 . . 1.0E-191 0.000 0.063 . 0.016 0.024 . 0.015 . 0.012 -2.051 0.679 . . . . . 1 1538 10 1/0 0,165,255 +. 19 55286740 A G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286740 55286740 Chr19(GRCh37):g.55286740A>G 494 494 NM_014219.2:c.494A>G p.Glu165Gly p.Glu165Gly 4 604937 124 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 transition A G A>G 0.000 -1.893 E Glu GAG 0.583 G Gly GGG 0.250 165 11 4 Horse -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 353.86 0.00 Tolerated 0.38 II.93 good 3.673E-1 0.6917 191 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A494G:p.E165G . . 0.13646533 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.066 . . 447.0 . . . . . . . . . . -1.9942 -2.102 -1.994 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.092 . . 0.275 . . . 0.086 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.729 . . 0 0 0 0 0 0 . 0.188 . . 0.162 . . . . . . 0 0.144 . . . . . 0.038 . 0.314 . LowAF 0.28 . . . . . . . . . . . . . II.38 . . 1.I -2.21 . 0.200000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.051 -2.051000 . . 0.200000 . . 1.0E-191 0.000 0.063 . 0.016 0.024 . 0.015 . 0.012 -2.051 0.679 . . . . . 1 1538 10 1/0 0,165,255 +. 19 55286740 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286740 55286740 Chr19(GRCh37):g.55286740A>G *22712 *22712 NM_001291695.1:c.*22712A>G p.? p.? 8 604953 22856 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition A G A>G 0.000 -1.893 191 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.A494G:p.E165G . . 0.13646533 . . @ 61 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.038 . @ . . . . . 1 0.066 . . 447.0 . . . . . . . . . . -1.9942 -2.102 -1.994 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.182 . . exonic exonic exonic . . 0.065 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.092 . . 0.275 . . . 0.086 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.729 . . 0 0 0 0 0 0 . 0.188 . . 0.162 . . . . . . 0 0.144 . . . . . 0.038 . 0.314 . LowAF 0.28 . . . . . . . . . . . . . II.38 . . 1.I -2.21 . 0.200000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.051 -2.051000 . . 0.200000 . . 1.0E-191 0.000 0.063 . 0.016 0.024 . 0.015 . 0.012 -2.051 0.679 . . . . . 1 1538 10 1/0 0,165,255 +rs377404034 19 55286752 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286752 55286752 Chr19(GRCh37):g.55286752G>C 506 506 NM_014218.2:c.506G>C p.Arg169Pro p.Arg169Pro 4 604936 136 3' 95.1486 13.6334 0.991794 14.0433 95.1486 13.6334 0.991794 14.0433 0 Cryptic Acceptor Strongly Activated 55286767 2.12548 0.455369 2.98257 0.587236 Immunoglobulin Immunoglobulin subtype rs377404034 yes no Frequency 1 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222114 13766 31162 8434 16906 25076 101106 20812 4852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transversion G C G>C 0.000 -2.216 R Arg CGT 0.082 P Pro CCT 0.283 169 7 4 Platypus -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 126.59 53.19 Tolerated 0.09 3.I bad 3.316E-5 0.01599 192 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G506C:p.R169P . . 0.13944224 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.120 . . 502.0 . . . . . . . . . . -1.7447 -1.858 -1.745 c . . . . . 8.456e-06 . . . 0 1.24e-05 0 0 0 2.662e-05 0 0 0 1.049e-05 0 0 0 2.04e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.065 @ . . . 0.29 0.37 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.094 . . 0.255 . . . 0.025 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.287 . . 0 0 0 0 0 0 . 0.135 . . 0.166 . . . . . . 0 0.506 . . . . . 0.004 . 0.379 . LowAF 0.06 . . . . . . . . . . . . . 0.4281 . . 1.I -2.21 . 0.090000 . . . . . . 0.009 . . . 0 4.502e-06 0 0 0 0 9.891e-06 0 0 . . . . . . . . . . 0.133 . -2.317 -2.317000 . . 0.090000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.000 . 0.013 . 0.047 -2.317 -1.702 . . . . . 1 1538 10 1/0 0,160,252 +rs377404034 19 55286752 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286752 55286752 Chr19(GRCh37):g.55286752G>C 506 506 NM_014219.2:c.506G>C p.Cys169Ser p.Cys169Ser 4 604937 136 3' 95.1486 13.6334 0.991794 14.5486 95.1486 13.6334 0.991794 14.5486 0 Cryptic Acceptor Strongly Activated 55286767 3.09735 0.759119 3.74562 0.855596 rs377404034 yes no Frequency 1 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222114 13766 31162 8434 16906 25076 101106 20812 4852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transversion G C G>C 0.000 -2.216 C Cys TGT 0.448 S Ser TCT 0.185 169 11 2 Orangutan -1 -1 -2 II.75 I.42 5.V 9.II 55 32 112 C0 266.57 0.00 Tolerated 0.43 II.83 good 3.144E-1 0.3487 192 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G506C:p.R169P . . 0.13944224 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.120 . . 502.0 . . . . . . . . . . -1.7447 -1.858 -1.745 c . . . . . 8.456e-06 . . . 0 1.24e-05 0 0 0 2.662e-05 0 0 0 1.049e-05 0 0 0 2.04e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.065 @ . . . 0.29 0.37 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.094 . . 0.255 . . . 0.025 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.287 . . 0 0 0 0 0 0 . 0.135 . . 0.166 . . . . . . 0 0.506 . . . . . 0.004 . 0.379 . LowAF 0.06 . . . . . . . . . . . . . 0.4281 . . 1.I -2.21 . 0.090000 . . . . . . 0.009 . . . 0 4.502e-06 0 0 0 0 9.891e-06 0 0 . . . . . . . . . . 0.133 . -2.317 -2.317000 . . 0.090000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.000 . 0.013 . 0.047 -2.317 -1.702 . . . . . 1 1538 10 1/0 0,160,252 +rs377404034 19 55286752 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286752 55286752 Chr19(GRCh37):g.55286752G>C *22724 *22724 NM_001291695.1:c.*22724G>C p.? p.? 8 604953 22868 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55286767 2.12548 0.455369 2.98257 0.587236 rs377404034 yes no Frequency 1 0.000000 0 0.000005 0.000000 0.000000 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000010 1 0 0 0 0 0 1 0 0 222114 13766 31162 8434 16906 25076 101106 20812 4852 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 74 Exomes transversion G C G>C 0.000 -2.216 192 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G506C:p.R169P . . 0.13944224 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.184 . @ . . . . . 1 0.120 . . 502.0 . . . . . . . . . . -1.7447 -1.858 -1.745 c . . . . . 8.456e-06 . . . 0 1.24e-05 0 0 0 2.662e-05 0 0 0 1.049e-05 0 0 0 2.04e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.065 @ . . . 0.29 0.37 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.053 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.094 . . 0.255 . . . 0.025 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.287 . . 0 0 0 0 0 0 . 0.135 . . 0.166 . . . . . . 0 0.506 . . . . . 0.004 . 0.379 . LowAF 0.06 . . . . . . . . . . . . . 0.4281 . . 1.I -2.21 . 0.090000 . . . . . . 0.009 . . . 0 4.502e-06 0 0 0 0 9.891e-06 0 0 . . . . . . . . . . 0.133 . -2.317 -2.317000 . . 0.090000 . . 9.999999999999999E-193 0.000 0.063 . 0.043 0.000 . 0.013 . 0.047 -2.317 -1.702 . . . . . 1 1538 10 1/0 0,160,252 +rs200746024 19 55286767 G T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286767 55286767 Chr19(GRCh37):g.55286767G>T 521 521 NM_014218.2:c.521G>T p.Gly174Val p.Gly174Val 4 604936 -144 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs200746024 yes no Frequency/1000G 2 0.000000 0 0.034345 0.063500 0.020400 0.021800 0.025800 0.028800 0.005005 0.008735 0.007444 0.001295 0.007337 0.001883 0.002018 0.016793 0.004410 0.016793 1175 162 216 11 117 46 223 376 24 234748 18546 29018 8494 15946 24428 110484 22390 5442 0.001014 0.001402 0.001999 0.000471 0.000627 0.000164 0.000453 0.003573 0.001103 119 13 29 2 5 2 25 40 3 937 136 158 7 107 42 173 296 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287246 Oesophagus 0.000712 1405 transversion G T G>T 0.000 -2.377 G Gly GGG 0.250 V Val GTG 0.468 174 7 2 Cow -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 152.96 0.00 Tolerated 0.49 3.I good 8.601E-1 0.254 185 PASS . . . . . 0.064 0.034 0.029 0.022 0.026 0.02 . . KIR2DL1:NM_014218:exon4:c.G521T:p.G174V . . 0.12228797 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.045 . . 507.0 . . . . . . . . . . -2.1362 -2.191 -2.136 c . . . . . 3.659e-03 . . . 0.0105 0.0033 0.0018 0.0042 0.0003 0.0030 0.0016 0.0008 0.0045 0.0010 0.0012 0.0021 0.0002 0.0003 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.231 . . exonic exonic exonic . . 0.065 0.0343 . . . 0.24 0.29 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.057 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.072 . . 0.214 . . . 0.039 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 0.049 . . . . . 0.063 . 0.374 . LowAF 1 . . . . . . . . . . . . . III.76 . . 1.I -2.21 . 1.000000 . . . . . . 0.004 . . . 0.0128 0.0055 0.0076 0.0013 0.0077 0.0194 0.0022 0.0050 0.0019 0.0014 0.0011 0.0014 0 0.0034 0.0003 0.0008 0.0012 . . 0.133 . -2.404 -2.404000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.001 . 0.043 . 0.012 -2.404 -1.542 . . . rs200746024 rs200746024 1 1538 10 1/0 0,158,255 +rs200746024 19 55286767 G T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286767 55286767 Chr19(GRCh37):g.55286767G>T 521 521 NM_014219.2:c.521G>T p.Gly174Val p.Gly174Val 4 604937 -144 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs200746024 yes no Frequency/1000G 2 0.000000 0 0.034345 0.063500 0.020400 0.021800 0.025800 0.028800 0.005005 0.008735 0.007444 0.001295 0.007337 0.001883 0.002018 0.016793 0.004410 0.016793 1175 162 216 11 117 46 223 376 24 234748 18546 29018 8494 15946 24428 110484 22390 5442 0.001014 0.001402 0.001999 0.000471 0.000627 0.000164 0.000453 0.003573 0.001103 119 13 29 2 5 2 25 40 3 937 136 158 7 107 42 173 296 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287246 Oesophagus 0.000712 1405 transversion G T G>T 0.000 -2.377 G Gly GGG 0.250 V Val GTG 0.468 174 11 2 Horse -3 -3 -6 0.74 0 9 5.IX 3 84 109 C0 353.86 0.00 Tolerated 0.65 II.87 good 9.447E-1 0.2513 185 PASS . . . . . 0.064 0.034 0.029 0.022 0.026 0.02 . . KIR2DL1:NM_014218:exon4:c.G521T:p.G174V . . 0.12228797 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.045 . . 507.0 . . . . . . . . . . -2.1362 -2.191 -2.136 c . . . . . 3.659e-03 . . . 0.0105 0.0033 0.0018 0.0042 0.0003 0.0030 0.0016 0.0008 0.0045 0.0010 0.0012 0.0021 0.0002 0.0003 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.231 . . exonic exonic exonic . . 0.065 0.0343 . . . 0.24 0.29 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.057 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.072 . . 0.214 . . . 0.039 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 0.049 . . . . . 0.063 . 0.374 . LowAF 1 . . . . . . . . . . . . . III.76 . . 1.I -2.21 . 1.000000 . . . . . . 0.004 . . . 0.0128 0.0055 0.0076 0.0013 0.0077 0.0194 0.0022 0.0050 0.0019 0.0014 0.0011 0.0014 0 0.0034 0.0003 0.0008 0.0012 . . 0.133 . -2.404 -2.404000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.001 . 0.043 . 0.012 -2.404 -1.542 . . . rs200746024 rs200746024 1 1538 10 1/0 0,158,255 +rs200746024 19 55286767 G T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286767 55286767 Chr19(GRCh37):g.55286767G>T *22739 *22739 NM_001291695.1:c.*22739G>T p.? p.? 8 604953 22883 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200746024 yes no Frequency/1000G 2 0.000000 0 0.034345 0.063500 0.020400 0.021800 0.025800 0.028800 0.005005 0.008735 0.007444 0.001295 0.007337 0.001883 0.002018 0.016793 0.004410 0.016793 1175 162 216 11 117 46 223 376 24 234748 18546 29018 8494 15946 24428 110484 22390 5442 0.001014 0.001402 0.001999 0.000471 0.000627 0.000164 0.000453 0.003573 0.001103 119 13 29 2 5 2 25 40 3 937 136 158 7 107 42 173 296 18 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4287246 Oesophagus 0.000712 1405 transversion G T G>T 0.000 -2.377 185 PASS . . . . . 0.064 0.034 0.029 0.022 0.026 0.02 . . KIR2DL1:NM_014218:exon4:c.G521T:p.G174V . . 0.12228797 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.045 . . 507.0 . . . . . . . . . . -2.1362 -2.191 -2.136 c . . . . . 3.659e-03 . . . 0.0105 0.0033 0.0018 0.0042 0.0003 0.0030 0.0016 0.0008 0.0045 0.0010 0.0012 0.0021 0.0002 0.0003 0 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.231 . . exonic exonic exonic . . 0.065 0.0343 . . . 0.24 0.29 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.057 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.072 . . 0.214 . . . 0.039 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.002 . . 0 0 0 0 0 0 . 0.067 . . 0.080 . . . . . . 0 0.049 . . . . . 0.063 . 0.374 . LowAF 1 . . . . . . . . . . . . . III.76 . . 1.I -2.21 . 1.000000 . . . . . . 0.004 . . . 0.0128 0.0055 0.0076 0.0013 0.0077 0.0194 0.0022 0.0050 0.0019 0.0014 0.0011 0.0014 0 0.0034 0.0003 0.0008 0.0012 . . 0.133 . -2.404 -2.404000 . . 1.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.001 . 0.043 . 0.012 -2.404 -1.542 . . . rs200746024 rs200746024 1 1538 10 1/0 0,158,255 +rs111799279 19 55286769 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286769 55286769 Chr19(GRCh37):g.55286769C>A 523 523 NM_014218.2:c.523C>A p.Pro175Thr p.Pro175Thr 4 604936 -142 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs111799279 yes no Frequency 1 0.000000 0 0.000088 0.000048 0.000313 0.000000 0.000054 0.000159 0.000044 0.000000 0.000175 0.000313 22 1 10 0 1 4 5 0 1 248598 20806 31942 8690 18462 25090 113892 24002 5714 0.000048 0.000000 0.000188 0.000000 0.000000 0.000080 0.000035 0.000000 0.000000 6 0 3 0 0 1 2 0 0 10 1 4 0 1 2 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8116 4183 12299 0 1 1 0 0.000239006 8.13008e-05 0 0.000239006 8.13008e-05 130 COSM6361468|COSM6361468 Thyroid|Large intestine 0.001339|0.000418 747|2391 transversion C A C>A 0.000 0.044 P Pro CCC 0.328 T Thr ACC 0.361 175 7 3 Platypus -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 75.14 0.00 Tolerated 0.4 3.I good 4.877E-1 0.05008 238 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C523A:p.P175T . . 0.26587301 . . @ 134 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.049 . . 504.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.3694 -1.493 -1.369 c . . . . . 1.685e-04 . . . 0.0003 0.0001 0.0002 0.0002 0 0.0001 0 7.438e-05 0.0001 7.336e-05 0.0002 0.0001 0 4.076e-05 0 7.482e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.131 @ . . . 0.21 0.25 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.135 . . 0.284 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.683 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.259 . . . . . 0.077 . 0.446 . HET 0.11 . 0.130 0.123 . . . . . . . . . . III.76 . . 1.I -0.0517 . 0.070000 . . . . 0.000081 . 0.017 . . . 0 8.55e-05 0.0003 0 5.914e-05 0 4.942e-05 0.0002 0.0002 0.0001 0.0001 0.0027 0 0 0 0 0 . . 0.133 . 0.052 0.052000 . . 0.070000 . . 1.0E-238 0.000 0.063 . 0.016 0.000 . 0.017 . 0.001 0.052 -3.249 0.13 . . rs74456429 rs111799279 1 1538 10 1/0 0,171,234 +rs111799279 19 55286769 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286769 55286769 Chr19(GRCh37):g.55286769C>A 523 523 NM_014219.2:c.523C>A p.Pro175Thr p.Pro175Thr 4 604937 -142 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs111799279 yes no Frequency 1 0.000000 0 0.000088 0.000048 0.000313 0.000000 0.000054 0.000159 0.000044 0.000000 0.000175 0.000313 22 1 10 0 1 4 5 0 1 248598 20806 31942 8690 18462 25090 113892 24002 5714 0.000048 0.000000 0.000188 0.000000 0.000000 0.000080 0.000035 0.000000 0.000000 6 0 3 0 0 1 2 0 0 10 1 4 0 1 2 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8116 4183 12299 0 1 1 0 0.000239006 8.13008e-05 0 0.000239006 8.13008e-05 130 COSM6361468|COSM6361468 Thyroid|Large intestine 0.001339|0.000418 747|2391 transversion C A C>A 0.000 0.044 P Pro CCC 0.328 T Thr ACC 0.361 175 11 3 Chicken -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Tolerated 0.75 II.87 good 4.478E-1 0.3067 238 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C523A:p.P175T . . 0.26587301 . . @ 134 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.049 . . 504.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.3694 -1.493 -1.369 c . . . . . 1.685e-04 . . . 0.0003 0.0001 0.0002 0.0002 0 0.0001 0 7.438e-05 0.0001 7.336e-05 0.0002 0.0001 0 4.076e-05 0 7.482e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.131 @ . . . 0.21 0.25 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.135 . . 0.284 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.683 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.259 . . . . . 0.077 . 0.446 . HET 0.11 . 0.130 0.123 . . . . . . . . . . III.76 . . 1.I -0.0517 . 0.070000 . . . . 0.000081 . 0.017 . . . 0 8.55e-05 0.0003 0 5.914e-05 0 4.942e-05 0.0002 0.0002 0.0001 0.0001 0.0027 0 0 0 0 0 . . 0.133 . 0.052 0.052000 . . 0.070000 . . 1.0E-238 0.000 0.063 . 0.016 0.000 . 0.017 . 0.001 0.052 -3.249 0.13 . . rs74456429 rs111799279 1 1538 10 1/0 0,171,234 +rs111799279 19 55286769 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286769 55286769 Chr19(GRCh37):g.55286769C>A *22741 *22741 NM_001291695.1:c.*22741C>A p.? p.? 8 604953 22885 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs111799279 yes no Frequency 1 0.000000 0 0.000088 0.000048 0.000313 0.000000 0.000054 0.000159 0.000044 0.000000 0.000175 0.000313 22 1 10 0 1 4 5 0 1 248598 20806 31942 8690 18462 25090 113892 24002 5714 0.000048 0.000000 0.000188 0.000000 0.000000 0.000080 0.000035 0.000000 0.000000 6 0 3 0 0 1 2 0 0 10 1 4 0 1 2 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8116 4183 12299 0 1 1 0 0.000239006 8.13008e-05 0 0.000239006 8.13008e-05 130 COSM6361468|COSM6361468 Thyroid|Large intestine 0.001339|0.000418 747|2391 transversion C A C>A 0.000 0.044 238 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C523A:p.P175T . . 0.26587301 . . @ 134 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.025 . @ . . . . . 1 0.049 . . 504.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.3694 -1.493 -1.369 c . . . . . 1.685e-04 . . . 0.0003 0.0001 0.0002 0.0002 0 0.0001 0 7.438e-05 0.0001 7.336e-05 0.0002 0.0001 0 4.076e-05 0 7.482e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.190 . . exonic exonic exonic . . 0.131 @ . . . 0.21 0.25 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.135 . . 0.284 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.683 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.259 . . . . . 0.077 . 0.446 . HET 0.11 . 0.130 0.123 . . . . . . . . . . III.76 . . 1.I -0.0517 . 0.070000 . . . . 0.000081 . 0.017 . . . 0 8.55e-05 0.0003 0 5.914e-05 0 4.942e-05 0.0002 0.0002 0.0001 0.0001 0.0027 0 0 0 0 0 . . 0.133 . 0.052 0.052000 . . 0.070000 . . 1.0E-238 0.000 0.063 . 0.016 0.000 . 0.017 . 0.001 0.052 -3.249 0.13 . . rs74456429 rs111799279 1 1538 10 1/0 0,171,234 +rs551912555 19 55286773 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286773 55286773 Chr19(GRCh37):g.55286773A>G 527 527 NM_014218.2:c.527A>G p.Lys176Arg p.Lys176Arg 4 604936 -138 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs551912555 yes no Frequency/1000G 2 0.000000 0 0.028554 0.050700 0.020400 0.012900 0.024900 0.025900 transition A G A>G 0.000 0.044 K Lys AAG 0.575 R Arg AGG 0.207 176 7 1 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 177.20 0.00 Tolerated 0.59 3.I good 7.947E-1 0.6668 189 PASS . . . . . 0.051 0.029 0.026 0.013 0.025 0.02 . . KIR2DL1:NM_014218:exon4:c.A527G:p.K176R . . 0.13235295 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.077 . . 476.0 . . . . . . . . . . -1.5033 -1.565 -1.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.219 . . exonic exonic exonic . . 0.113 0.0286 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.091 . . 0.294 . . . 0.099 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.721 . . . . . 0.073 . 0.301 . LowAF 0.19 . . . . . . . . . . . . . III.02 . . 1.I -0.528 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.045 0.045000 . . 0.050000 . . 1.0E-189 0.000 0.063 . 0.016 0.002 . 0.165 . 0.015 0.045 -0.933 . . . . . 1 1538 10 1/0 0,162,255 +rs551912555 19 55286773 A G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286773 55286773 Chr19(GRCh37):g.55286773A>G 527 527 NM_014219.2:c.527A>G p.Lys176Arg p.Lys176Arg 4 604937 -138 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs551912555 yes no Frequency/1000G 2 0.000000 0 0.028554 0.050700 0.020400 0.012900 0.024900 0.025900 transition A G A>G 0.000 0.044 K Lys AAG 0.575 R Arg AGG 0.207 176 11 2 Orangutan 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 256.64 0.00 Tolerated 0.74 II.83 good 4.919E-1 0.5254 189 PASS . . . . . 0.051 0.029 0.026 0.013 0.025 0.02 . . KIR2DL1:NM_014218:exon4:c.A527G:p.K176R . . 0.13235295 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.077 . . 476.0 . . . . . . . . . . -1.5033 -1.565 -1.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.219 . . exonic exonic exonic . . 0.113 0.0286 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.091 . . 0.294 . . . 0.099 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.721 . . . . . 0.073 . 0.301 . LowAF 0.19 . . . . . . . . . . . . . III.02 . . 1.I -0.528 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.045 0.045000 . . 0.050000 . . 1.0E-189 0.000 0.063 . 0.016 0.002 . 0.165 . 0.015 0.045 -0.933 . . . . . 1 1538 10 1/0 0,162,255 +rs551912555 19 55286773 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286773 55286773 Chr19(GRCh37):g.55286773A>G *22745 *22745 NM_001291695.1:c.*22745A>G p.? p.? 8 604953 22889 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs551912555 yes no Frequency/1000G 2 0.000000 0 0.028554 0.050700 0.020400 0.012900 0.024900 0.025900 transition A G A>G 0.000 0.044 189 PASS . . . . . 0.051 0.029 0.026 0.013 0.025 0.02 . . KIR2DL1:NM_014218:exon4:c.A527G:p.K176R . . 0.13235295 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.077 . . 476.0 . . . . . . . . . . -1.5033 -1.565 -1.503 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.219 . . exonic exonic exonic . . 0.113 0.0286 . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.091 . . 0.294 . . . 0.099 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.199 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.721 . . . . . 0.073 . 0.301 . LowAF 0.19 . . . . . . . . . . . . . III.02 . . 1.I -0.528 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.045 0.045000 . . 0.050000 . . 1.0E-189 0.000 0.063 . 0.016 0.002 . 0.165 . 0.015 0.045 -0.933 . . . . . 1 1538 10 1/0 0,162,255 +rs142432377 19 55286774 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286774 55286774 Chr19(GRCh37):g.55286774G>C 528 528 NM_014218.2:c.528G>C p.Lys176Asn p.Lys176Asn 4 604936 -137 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs142432377 yes no Frequency/1000G 2 0.000000 0 0.020168 0.037800 0.017400 0.005000 0.012900 0.023100 transversion G C G>C 0.000 0.044 K Lys AAG 0.575 N Asn AAC 0.536 176 7 1 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 177.20 0.00 Tolerated 0.49 3.I good 8.676E-1 0.6668 185 PASS . . . . . 0.038 0.02 0.023 0.005 0.013 0.017 . . KIR2DL1:NM_014218:exon4:c.G528C:p.K176N . . 0.12326044 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.238 . . 503.0 . . . . . . . . . . -1.0642 -1.223 -1.064 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.223 . . exonic exonic exonic . . 0.126 0.0202 . . . 0.25 0.28 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.197 . . . 0.303 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.324 . . 0.214 . . . . . . 0 0.721 . . . . . 0.131 . 0.264 . LowAF 0 . . . . . . . . . . . . . IV.47 . . 1.I -0.175 . 0.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.019 0.019000 . . 0.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.003 . 0.001 0.019 -1.417 . . . . . 1 1538 10 1/0 0,158,255 +rs142432377 19 55286774 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286774 55286774 Chr19(GRCh37):g.55286774G>C 528 528 NM_014219.2:c.528G>C p.Lys176Asn p.Lys176Asn 4 604937 -137 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 Cryptic Acceptor Strongly Activated 55286793 0.000779 70.8741 0.664269 0.001488 70.8741 rs142432377 yes no Frequency/1000G 2 0.000000 0 0.020168 0.037800 0.017400 0.005000 0.012900 0.023100 transversion G C G>C 0.000 0.044 K Lys AAG 0.575 N Asn AAC 0.536 176 11 2 Orangutan 0 0 0 0.33 I.33 11.III 11.VI 119 56 94 C0 256.64 IV.86 Tolerated 0.31 II.83 good 8.111E-1 0.5254 185 PASS . . . . . 0.038 0.02 0.023 0.005 0.013 0.017 . . KIR2DL1:NM_014218:exon4:c.G528C:p.K176N . . 0.12326044 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.238 . . 503.0 . . . . . . . . . . -1.0642 -1.223 -1.064 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.223 . . exonic exonic exonic . . 0.126 0.0202 . . . 0.25 0.28 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.197 . . . 0.303 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.324 . . 0.214 . . . . . . 0 0.721 . . . . . 0.131 . 0.264 . LowAF 0 . . . . . . . . . . . . . IV.47 . . 1.I -0.175 . 0.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.019 0.019000 . . 0.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.003 . 0.001 0.019 -1.417 . . . . . 1 1538 10 1/0 0,158,255 +rs142432377 19 55286774 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286774 55286774 Chr19(GRCh37):g.55286774G>C *22746 *22746 NM_001291695.1:c.*22746G>C p.? p.? 8 604953 22890 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs142432377 yes no Frequency/1000G 2 0.000000 0 0.020168 0.037800 0.017400 0.005000 0.012900 0.023100 transversion G C G>C 0.000 0.044 185 PASS . . . . . 0.038 0.02 0.023 0.005 0.013 0.017 . . KIR2DL1:NM_014218:exon4:c.G528C:p.K176N . . 0.12326044 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.060 . @ . . . . . 1 0.238 . . 503.0 . . . . . . . . . . -1.0642 -1.223 -1.064 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.223 . . exonic exonic exonic . . 0.126 0.0202 . . . 0.25 0.28 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.145 . . 0.197 . . . 0.303 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.324 . . 0.214 . . . . . . 0 0.721 . . . . . 0.131 . 0.264 . LowAF 0 . . . . . . . . . . . . . IV.47 . . 1.I -0.175 . 0.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.019 0.019000 . . 0.000000 . . 1.0E-185 0.000 0.063 . 0.016 0.003 . 0.003 . 0.001 0.019 -1.417 . . . . . 1 1538 10 1/0 0,158,255 +rs749653872 19 55286780 C T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286780 55286780 Chr19(GRCh37):g.55286780C>T 534 534 NM_014218.2:c.534C>T p.Asn178= p.Asn178Asn 4 604936 -131 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Cryptic Donor Strongly Activated 55286774 2.22299 0.094133 71.8807 3.77335 0.155603 77.6593 Immunoglobulin Immunoglobulin subtype rs749653872 yes no Frequency 1 0.000000 0 0.000068 0.000049 0.000000 0.000000 0.000000 0.000000 0.000140 0.000000 0.000000 0.000140 17 1 0 0 0 0 16 0 0 248592 20612 31936 8690 18466 25124 114052 24004 5708 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 5 0 0 0 0 0 5 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.602 N Asn AAC 0.536 N Asn AAT 0.464 178 194 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C534T:p.N178N . . 0.14285715 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 504.0 . . . . . . . . . . -0.6018 . . . . . . . . 1.171e-04 . . . 0.0001 0.0001 0 0 0 0.0003 0 0 0.0001 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.303e-05 0 0 0 0 0.0001 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,160,255 +rs749653872 19 55286780 C T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286780 55286780 Chr19(GRCh37):g.55286780C>T 534 534 NM_014219.2:c.534C>T p.Asn178= p.Asn178Asn 4 604937 -131 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 Cryptic Donor Strongly Activated 55286774 2.22299 0.094133 71.8807 3.77335 0.155603 77.6593 rs749653872 yes no Frequency 1 0.000000 0 0.000068 0.000049 0.000000 0.000000 0.000000 0.000000 0.000140 0.000000 0.000000 0.000140 17 1 0 0 0 0 16 0 0 248592 20612 31936 8690 18466 25124 114052 24004 5708 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 5 0 0 0 0 0 5 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.602 N Asn AAC 0.536 N Asn AAT 0.464 178 194 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C534T:p.N178N . . 0.14285715 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 504.0 . . . . . . . . . . -0.6018 . . . . . . . . 1.171e-04 . . . 0.0001 0.0001 0 0 0 0.0003 0 0 0.0001 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.303e-05 0 0 0 0 0.0001 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,160,255 +rs749653872 19 55286780 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286780 55286780 Chr19(GRCh37):g.55286780C>T *22752 *22752 NM_001291695.1:c.*22752C>T p.? p.? 8 604953 22896 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55286774 2.22299 0.094133 71.8807 3.77335 0.155603 77.6593 rs749653872 yes no Frequency 1 0.000000 0 0.000068 0.000049 0.000000 0.000000 0.000000 0.000000 0.000140 0.000000 0.000000 0.000140 17 1 0 0 0 0 16 0 0 248592 20612 31936 8690 18466 25124 114052 24004 5708 0.000040 0.000000 0.000000 0.000000 0.000000 0.000000 0.000088 0.000000 0.000000 5 0 0 0 0 0 5 0 0 7 1 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.000 -0.602 194 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C534T:p.N178N . . 0.14285715 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 504.0 . . . . . . . . . . -0.6018 . . . . . . . . 1.171e-04 . . . 0.0001 0.0001 0 0 0 0.0003 0 0 0.0001 0.0001 0 0 0 0.0002 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.303e-05 0 0 0 0 0.0001 0 0 0.0001 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,160,255 +rs62121640 19 55286781 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286781 55286781 Chr19(GRCh37):g.55286781G>A 535 535 NM_014218.2:c.535G>A p.Gly179Arg p.Gly179Arg 4 604936 -130 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs62121640 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000056 0.000097 0.000063 0.000230 0.000000 0.000279 0.000009 0.000000 0.000000 0.000279 14 2 2 2 0 7 1 0 0 248810 20682 31946 8690 18470 25132 114156 24022 5712 0.000032 0.000000 0.000000 0.000230 0.000000 0.000239 0.000000 0.000000 0.000000 4 0 0 1 0 3 0 0 0 6 2 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8302 4262 12564 2 0 2 0.000240848 0 0.00015916 0.000240848 0 0.00015916 139 COSM4287248 Large intestine 0.000836 2391 transition G A G>A 0.000 0.044 G Gly GGA 0.246 R Arg AGA 0.205 179 7 4 Mouse -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 242.52 0.00 Tolerated 0.87 III.33 good 7.582E-1 0.2208 255 PASS . . . . . . 0.0004 . . . 0.002 . . KIR2DL1:NM_014218:exon4:c.G535A:p.G179R . . 0.39520958 . . @ 198 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.040 . . 501.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.8274 -1.048 -0.827 c . . . . . 9.131e-05 . . . 0 0.0001 9.273e-05 0 0 7.961e-05 0 0.0005 0 0.0001 9.549e-05 0 0 6.107e-05 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.199 . . exonic exonic exonic . . 0.125 0.0004 . . . 0.32 0.36 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.151 . . 0.198 . . . 0.713 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.901 . . 0 0 0 0 0 0 . 0.473 . . 0.383 . . . . . . 0 0.105 . . . . . 0.129 . 0.553 . HET 0.31 . . . . . . . . . . . . . IV.13 . . 1.I -0.2 . 0.310000 . . . . 0.000159 . 0.020 . . . 7.364e-05 5.849e-05 6.412e-05 0.0002 0 0 9.87e-06 0 0.0003 0.0001 3.765e-05 0 0 0 0 0 0 . . 0.133 . 0.008 0.008000 . . 0.310000 . . 1.0E-255 0.003 0.159 . 0.043 0.004 . 0.188 . 0.055 0.008 0.150 0.0002 rs62121640 rs62121640 rs62121640 rs201609645 1 1538 10 1/0 0,183,218 +rs62121640 19 55286781 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286781 55286781 Chr19(GRCh37):g.55286781G>A 535 535 NM_014219.2:c.535G>A p.Gly179Arg p.Gly179Arg 4 604937 -130 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs62121640 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000056 0.000097 0.000063 0.000230 0.000000 0.000279 0.000009 0.000000 0.000000 0.000279 14 2 2 2 0 7 1 0 0 248810 20682 31946 8690 18470 25132 114156 24022 5712 0.000032 0.000000 0.000000 0.000230 0.000000 0.000239 0.000000 0.000000 0.000000 4 0 0 1 0 3 0 0 0 6 2 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8302 4262 12564 2 0 2 0.000240848 0 0.00015916 0.000240848 0 0.00015916 139 COSM4287248 Large intestine 0.000836 2391 transition G A G>A 0.000 0.044 G Gly GGA 0.246 R Arg AGA 0.205 179 11 7 Horse -2 -2 -4 0.74 0.65 9 10.V 3 124 125 C0 353.86 0.00 Tolerated 0.55 III.26 good 4.582E-1 0.1646 255 PASS . . . . . . 0.0004 . . . 0.002 . . KIR2DL1:NM_014218:exon4:c.G535A:p.G179R . . 0.39520958 . . @ 198 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.040 . . 501.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.8274 -1.048 -0.827 c . . . . . 9.131e-05 . . . 0 0.0001 9.273e-05 0 0 7.961e-05 0 0.0005 0 0.0001 9.549e-05 0 0 6.107e-05 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.199 . . exonic exonic exonic . . 0.125 0.0004 . . . 0.32 0.36 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.151 . . 0.198 . . . 0.713 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.901 . . 0 0 0 0 0 0 . 0.473 . . 0.383 . . . . . . 0 0.105 . . . . . 0.129 . 0.553 . HET 0.31 . . . . . . . . . . . . . IV.13 . . 1.I -0.2 . 0.310000 . . . . 0.000159 . 0.020 . . . 7.364e-05 5.849e-05 6.412e-05 0.0002 0 0 9.87e-06 0 0.0003 0.0001 3.765e-05 0 0 0 0 0 0 . . 0.133 . 0.008 0.008000 . . 0.310000 . . 1.0E-255 0.003 0.159 . 0.043 0.004 . 0.188 . 0.055 0.008 0.150 0.0002 rs62121640 rs62121640 rs62121640 rs201609645 1 1538 10 1/0 0,183,218 +rs62121640 19 55286781 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286781 55286781 Chr19(GRCh37):g.55286781G>A *22753 *22753 NM_001291695.1:c.*22753G>A p.? p.? 8 604953 22897 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62121640 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000056 0.000097 0.000063 0.000230 0.000000 0.000279 0.000009 0.000000 0.000000 0.000279 14 2 2 2 0 7 1 0 0 248810 20682 31946 8690 18470 25132 114156 24022 5712 0.000032 0.000000 0.000000 0.000230 0.000000 0.000239 0.000000 0.000000 0.000000 4 0 0 1 0 3 0 0 0 6 2 2 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8302 4262 12564 2 0 2 0.000240848 0 0.00015916 0.000240848 0 0.00015916 139 COSM4287248 Large intestine 0.000836 2391 transition G A G>A 0.000 0.044 255 PASS . . . . . . 0.0004 . . . 0.002 . . KIR2DL1:NM_014218:exon4:c.G535A:p.G179R . . 0.39520958 . . @ 198 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.149 . @ . . . . . 1 0.040 . . 501.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.8274 -1.048 -0.827 c . . . . . 9.131e-05 . . . 0 0.0001 9.273e-05 0 0 7.961e-05 0 0.0005 0 0.0001 9.549e-05 0 0 6.107e-05 0 0.0005 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.199 . . exonic exonic exonic . . 0.125 0.0004 . . . 0.32 0.36 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.151 . . 0.198 . . . 0.713 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.901 . . 0 0 0 0 0 0 . 0.473 . . 0.383 . . . . . . 0 0.105 . . . . . 0.129 . 0.553 . HET 0.31 . . . . . . . . . . . . . IV.13 . . 1.I -0.2 . 0.310000 . . . . 0.000159 . 0.020 . . . 7.364e-05 5.849e-05 6.412e-05 0.0002 0 0 9.87e-06 0 0.0003 0.0001 3.765e-05 0 0 0 0 0 0 . . 0.133 . 0.008 0.008000 . . 0.310000 . . 1.0E-255 0.003 0.159 . 0.043 0.004 . 0.188 . 0.055 0.008 0.150 0.0002 rs62121640 rs62121640 rs62121640 rs201609645 1 1538 10 1/0 0,183,218 +rs147072532 19 55286796 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286796 55286796 Chr19(GRCh37):g.55286796G>A 550 550 NM_014218.2:c.550G>A p.Asp184Asn p.Asp184Asn 4 604936 -115 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs147072532 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223752 13550 31268 8466 16926 25310 102458 20890 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 77 Exomes COSM5486914|COSM5486914 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition G A G>A 0.000 -0.440 D Asp GAC 0.539 N Asn AAC 0.536 184 7 3 Opossum 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 240.29 0.00 Tolerated 0.18 III.33 good 2.213E-2 0.00265 229 PASS . . . . . . 0.0004 0.0029 . . . . . KIR2DL1:NM_014218:exon4:c.G550A:p.D184N . . 0.23895583 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.267 . . 498.0 . . . . . . . . . . -1.1698 -1.330 -1.170 c . . . . . 8.137e-06 . . . 0 1.221e-05 0 0 0 0 0 7.306e-05 0 1.032e-05 0 0 0 0 0 7.35e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.078 0.0004 . . . 0.23 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.129 . . 0.281 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.184 . . 0.158 . . . . . . 0 0.276 . . . . . 0.091 . 0.250 . HET 0.15 . . . . . . . . . . . . . 4.0352 . . 1.I -1.67 . 0.130000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.445 -0.445000 . . 0.130000 . . 1.0E-229 0.000 0.063 . 0.062 0.014 . 0.041 . 0.065 -0.445 -1.036 . . . rs147072532 rs147072532 1 1538 10 1/0 0,170,244 +rs147072532 19 55286796 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286796 55286796 Chr19(GRCh37):g.55286796G>A 550 550 NM_014219.2:c.550G>A p.Asp184Asn p.Asp184Asn 4 604937 -115 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs147072532 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223752 13550 31268 8466 16926 25310 102458 20890 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 77 Exomes COSM5486914|COSM5486914 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition G A G>A 0.000 -0.440 D Asp GAC 0.539 N Asn AAC 0.536 184 11 6 Opossum 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 270.03 0.00 Tolerated 0.47 II.83 good 9.576E-1 0.5667 229 PASS . . . . . . 0.0004 0.0029 . . . . . KIR2DL1:NM_014218:exon4:c.G550A:p.D184N . . 0.23895583 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.267 . . 498.0 . . . . . . . . . . -1.1698 -1.330 -1.170 c . . . . . 8.137e-06 . . . 0 1.221e-05 0 0 0 0 0 7.306e-05 0 1.032e-05 0 0 0 0 0 7.35e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.078 0.0004 . . . 0.23 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.129 . . 0.281 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.184 . . 0.158 . . . . . . 0 0.276 . . . . . 0.091 . 0.250 . HET 0.15 . . . . . . . . . . . . . 4.0352 . . 1.I -1.67 . 0.130000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.445 -0.445000 . . 0.130000 . . 1.0E-229 0.000 0.063 . 0.062 0.014 . 0.041 . 0.065 -0.445 -1.036 . . . rs147072532 rs147072532 1 1538 10 1/0 0,170,244 +rs147072532 19 55286796 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286796 55286796 Chr19(GRCh37):g.55286796G>A *22768 *22768 NM_001291695.1:c.*22768G>A p.? p.? 8 604953 22912 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs147072532 yes no Frequency/1000G 2 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.000000 0.002900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 223752 13550 31268 8466 16926 25310 102458 20890 4884 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 77 Exomes COSM5486914|COSM5486914 Thyroid|Large intestine 0.001339|0.000836 747|2391 transition G A G>A 0.000 -0.440 229 PASS . . . . . . 0.0004 0.0029 . . . . . KIR2DL1:NM_014218:exon4:c.G550A:p.D184N . . 0.23895583 . . @ 119 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.054 . @ . . . . . 1 0.267 . . 498.0 . . . . . . . . . . -1.1698 -1.330 -1.170 c . . . . . 8.137e-06 . . . 0 1.221e-05 0 0 0 0 0 7.306e-05 0 1.032e-05 0 0 0 0 0 7.35e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.202 . . exonic exonic exonic . . 0.078 0.0004 . . . 0.23 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.129 . . 0.281 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.470 . . 0 0 0 0 0 0 . 0.184 . . 0.158 . . . . . . 0 0.276 . . . . . 0.091 . 0.250 . HET 0.15 . . . . . . . . . . . . . 4.0352 . . 1.I -1.67 . 0.130000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.445 -0.445000 . . 0.130000 . . 1.0E-229 0.000 0.063 . 0.062 0.014 . 0.041 . 0.065 -0.445 -1.036 . . . rs147072532 rs147072532 1 1538 10 1/0 0,170,244 +rs2916003 19 55286809 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286809 55286809 Chr19(GRCh37):g.55286809G>A 563 563 NM_014218.2:c.563G>A p.Gly188Asp p.Gly188Asp 4 604936 -102 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs2916003 yes no Frequency/1000G 2 0.000000 0 0.004992 0.018200 0.000000 0.000000 0.000000 0.001400 0.000051 0.000572 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000572 13 12 1 0 0 0 0 0 0 254086 20986 32218 8792 18542 26094 117328 24330 5796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 12 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4132537|COSM4132537 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition G A G>A 0.008 0.932 G Gly GGC 0.342 D Asp GAC 0.539 188 7 3 Cow -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 138.80 61.50 Tolerated 0.14 3.I bad 8.284E-6 0.1077 255 PASS . . . . . 0.018 0.005 0.0014 . . . . . KIR2DL1:NM_014218:exon4:c.G563A:p.G188D . . 0.40232107 . . @ 208 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.207 . @ . . . . . 1 0.347 . . 517.0 . . . . . . . . . . -0.6261 -0.854 -0.626 c . . . . . 2.830e-04 . . . 0.0012 0.0001 9.154e-05 0 0 0 0 0 0.0009 8.209e-05 9.436e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.195 0.0050 . . . 0.22 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.273 . . 0.215 . . . 0.800 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.866 . . 0 0 0 0 0 0 . 0.404 . . 0.417 . . . . . . 0 0.393 . . . . . 0.165 . 0.472 . HET 0.03 . 0.011 0.007 . . . . . . . . . . V.29 8.35E-4 . 1.I 1.I . 0.010000 . . . . . . 0.022 . . . 0.0008 5.279e-05 3.18e-05 0 0 0 0 0 0 0.0001 3.737e-05 0 0 0 0 0 0 . . 0.133 . 0.924 0.924000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.167 0.380 . 0.059 . 0.276 0.924 0.150 0.011 rs2916003 rs2916003 rs2916003 rs202030177 1 1538 10 1/0 0,183,221 +rs2916003 19 55286809 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286809 55286809 Chr19(GRCh37):g.55286809G>A 563 563 NM_014219.2:c.563G>A p.Gly188Asp p.Gly188Asp 4 604937 -102 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs2916003 yes no Frequency/1000G 2 0.000000 0 0.004992 0.018200 0.000000 0.000000 0.000000 0.001400 0.000051 0.000572 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000572 13 12 1 0 0 0 0 0 0 254086 20986 32218 8792 18542 26094 117328 24330 5796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 12 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4132537|COSM4132537 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition G A G>A 0.008 0.932 G Gly GGC 0.342 D Asp GAC 0.539 188 11 5 Horse -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 229.59 61.50 Tolerated 0.25 II.83 bad 8.71E-6 0.1196 255 PASS . . . . . 0.018 0.005 0.0014 . . . . . KIR2DL1:NM_014218:exon4:c.G563A:p.G188D . . 0.40232107 . . @ 208 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.207 . @ . . . . . 1 0.347 . . 517.0 . . . . . . . . . . -0.6261 -0.854 -0.626 c . . . . . 2.830e-04 . . . 0.0012 0.0001 9.154e-05 0 0 0 0 0 0.0009 8.209e-05 9.436e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.195 0.0050 . . . 0.22 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.273 . . 0.215 . . . 0.800 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.866 . . 0 0 0 0 0 0 . 0.404 . . 0.417 . . . . . . 0 0.393 . . . . . 0.165 . 0.472 . HET 0.03 . 0.011 0.007 . . . . . . . . . . V.29 8.35E-4 . 1.I 1.I . 0.010000 . . . . . . 0.022 . . . 0.0008 5.279e-05 3.18e-05 0 0 0 0 0 0 0.0001 3.737e-05 0 0 0 0 0 0 . . 0.133 . 0.924 0.924000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.167 0.380 . 0.059 . 0.276 0.924 0.150 0.011 rs2916003 rs2916003 rs2916003 rs202030177 1 1538 10 1/0 0,183,221 +rs2916003 19 55286809 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286809 55286809 Chr19(GRCh37):g.55286809G>A *22781 *22781 NM_001291695.1:c.*22781G>A p.? p.? 8 604953 22925 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2916003 yes no Frequency/1000G 2 0.000000 0 0.004992 0.018200 0.000000 0.000000 0.000000 0.001400 0.000051 0.000572 0.000031 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000572 13 12 1 0 0 0 0 0 0 254086 20986 32218 8792 18542 26094 117328 24330 5796 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 12 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4132537|COSM4132537 Thyroid|Large intestine 0.001339|0.000418 747|2391 transition G A G>A 0.008 0.932 255 PASS . . . . . 0.018 0.005 0.0014 . . . . . KIR2DL1:NM_014218:exon4:c.G563A:p.G188D . . 0.40232107 . . @ 208 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.207 . @ . . . . . 1 0.347 . . 517.0 . . . . . . . . . . -0.6261 -0.854 -0.626 c . . . . . 2.830e-04 . . . 0.0012 0.0001 9.154e-05 0 0 0 0 0 0.0009 8.209e-05 9.436e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.197 . . exonic exonic exonic . . 0.195 0.0050 . . . 0.22 0.24 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . 0.273 . . 0.215 . . . 0.800 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.866 . . 0 0 0 0 0 0 . 0.404 . . 0.417 . . . . . . 0 0.393 . . . . . 0.165 . 0.472 . HET 0.03 . 0.011 0.007 . . . . . . . . . . V.29 8.35E-4 . 1.I 1.I . 0.010000 . . . . . . 0.022 . . . 0.0008 5.279e-05 3.18e-05 0 0 0 0 0 0 0.0001 3.737e-05 0 0 0 0 0 0 . . 0.133 . 0.924 0.924000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.167 0.380 . 0.059 . 0.276 0.924 0.150 0.011 rs2916003 rs2916003 rs2916003 rs202030177 1 1538 10 1/0 0,183,221 +rs28465191 19 55286822 C T - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286822 55286822 Chr19(GRCh37):g.55286822C>T 576 576 NM_014218.2:c.576C>T p.His192= p.His192His 4 604936 -89 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.04333 0 Immunoglobulin Immunoglobulin subtype rs28465191 yes no Frequency/1000G 2 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000062 0.000588 0.000011 0.000000 0.000000 0.000588 16 0 0 0 1 14 1 0 0 208090 12532 30120 8112 16178 23792 93876 18928 4552 0.250000 0.000000 0.000000 0.000000 0.000000 0.285714 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 8 0 0 0 1 6 1 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes COSM5486915 Large intestine 0.000418 2391 transition C T C>T 0.000 -0.602 H His CAC 0.587 H His CAT 0.413 192 217 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C576T:p.H192H . . 0.20289855 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 483.0 . . . . . . . . . . -0.4218 . . . . . . . . 4.041e-05 . . . 0 5.932e-05 0 0.0002 0 2.537e-05 0 0.0002 0 4.031e-05 0 0.0001 0 0 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1482 . . . 0.24 0.3 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.043 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000063630.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.689e-05 0 0 6.181e-05 0 1.065e-05 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . 0.043 rs28465191 rs28465191 rs28465191 rs28465191 1 1538 10 1/0 0,168,255 +rs28465191 19 55286822 C T - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286822 55286822 Chr19(GRCh37):g.55286822C>T 576 576 NM_014219.2:c.576C>T p.His192= p.His192His 4 604937 -89 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.27842 0 rs28465191 yes no Frequency/1000G 2 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000062 0.000588 0.000011 0.000000 0.000000 0.000588 16 0 0 0 1 14 1 0 0 208090 12532 30120 8112 16178 23792 93876 18928 4552 0.250000 0.000000 0.000000 0.000000 0.000000 0.285714 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 8 0 0 0 1 6 1 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes COSM5486915 Large intestine 0.000418 2391 transition C T C>T 0.000 -0.602 H His CAC 0.587 H His CAT 0.413 192 217 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C576T:p.H192H . . 0.20289855 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 483.0 . . . . . . . . . . -0.4218 . . . . . . . . 4.041e-05 . . . 0 5.932e-05 0 0.0002 0 2.537e-05 0 0.0002 0 4.031e-05 0 0.0001 0 0 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1482 . . . 0.24 0.3 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.043 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000063630.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.689e-05 0 0 6.181e-05 0 1.065e-05 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . 0.043 rs28465191 rs28465191 rs28465191 rs28465191 1 1538 10 1/0 0,168,255 +rs28465191 19 55286822 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286822 55286822 Chr19(GRCh37):g.55286822C>T *22794 *22794 NM_001291695.1:c.*22794C>T p.? p.? 8 604953 22938 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs28465191 yes no Frequency/1000G 2 0.000000 0 0.000077 0.000000 0.000000 0.000000 0.000062 0.000588 0.000011 0.000000 0.000000 0.000588 16 0 0 0 1 14 1 0 0 208090 12532 30120 8112 16178 23792 93876 18928 4552 0.250000 0.000000 0.000000 0.000000 0.000000 0.285714 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 8 0 0 0 1 6 1 0 0 0 0 0 0 0 0 0 0 0 PASS 98 Exomes COSM5486915 Large intestine 0.000418 2391 transition C T C>T 0.000 -0.602 217 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.C576T:p.H192H . . 0.20289855 . . @ 98 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 483.0 . . . . . . . . . . -0.4218 . . . . . . . . 4.041e-05 . . . 0 5.932e-05 0 0.0002 0 2.537e-05 0 0.0002 0 4.031e-05 0 0.0001 0 0 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.1482 . . . 0.24 0.3 182 ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.043 . CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000063630.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.689e-05 0 0 6.181e-05 0 1.065e-05 0 0.0006 . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . 0.043 rs28465191 rs28465191 rs28465191 rs28465191 1 1538 10 1/0 0,168,255 +rs371438548 19 55286836 G C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286836 55286836 Chr19(GRCh37):g.55286836G>C 590 590 NM_014218.2:c.590G>C p.Arg197Thr p.Arg197Thr 4 604936 -75 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 7.88209 0 Immunoglobulin Immunoglobulin subtype rs371438548 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000059 1 0 0 0 1 0 0 0 0 230020 14122 31456 8690 16966 26954 105556 21270 5006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transversion G C G>C 0.161 0.932 R Arg AGA 0.205 T Thr ACA 0.280 197 7 6 Platypus -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 42.81 39.20 Deleterious 0.02 3.I bad 6.816E-4 0.001118 193 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G590C:p.R197T . . 0.1417004 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.203 . @ . . . . . 1 0.118 . . 494.0 . . . . . . . . . . -0.3799 -0.659 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.304 . . 0.130 . . . 0.752 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.776 . . 0 0 0 0 0 0 . 0.532 . . 0.519 . . . . . . 0 0.682 . . . . . 0.165 . 0.590 . LowAF 0.02 . . . . . . . . . . . . . V.29 . . 1.I 1.I . 0.000000 . . . . . . 0.049 . . . 0 4.347e-06 0 0 5.894e-05 0 0 0 0 . . . . . . . . . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-193 0.000 0.063 . 0.104 0.159 . 0.133 . 0.071 0.924 -0.180 . . . rs371438548 rs371438548 1 1538 10 1/0 0,161,255 +rs371438548 19 55286836 G C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286836 55286836 Chr19(GRCh37):g.55286836G>C 590 590 NM_014219.2:c.590G>C p.Arg197Thr p.Arg197Thr 4 604937 -75 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.11719 0 rs371438548 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000059 1 0 0 0 1 0 0 0 0 230020 14122 31456 8690 16966 26954 105556 21270 5006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transversion G C G>C 0.161 0.932 R Arg AGA 0.205 T Thr ACA 0.280 197 11 8 Horse -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 244.41 0.00 Tolerated 0.1 II.83 bad 2.129E-3 0.01568 193 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G590C:p.R197T . . 0.1417004 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.203 . @ . . . . . 1 0.118 . . 494.0 . . . . . . . . . . -0.3799 -0.659 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.304 . . 0.130 . . . 0.752 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.776 . . 0 0 0 0 0 0 . 0.532 . . 0.519 . . . . . . 0 0.682 . . . . . 0.165 . 0.590 . LowAF 0.02 . . . . . . . . . . . . . V.29 . . 1.I 1.I . 0.000000 . . . . . . 0.049 . . . 0 4.347e-06 0 0 5.894e-05 0 0 0 0 . . . . . . . . . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-193 0.000 0.063 . 0.104 0.159 . 0.133 . 0.071 0.924 -0.180 . . . rs371438548 rs371438548 1 1538 10 1/0 0,161,255 +rs371438548 19 55286836 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286836 55286836 Chr19(GRCh37):g.55286836G>C *22808 *22808 NM_001291695.1:c.*22808G>C p.? p.? 8 604953 22952 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs371438548 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000000 0.000059 1 0 0 0 1 0 0 0 0 230020 14122 31456 8690 16966 26954 105556 21270 5006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes transversion G C G>C 0.161 0.932 193 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.G590C:p.R197T . . 0.1417004 . . @ 70 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.203 . @ . . . . . 1 0.118 . . 494.0 . . . . . . . . . . -0.3799 -0.659 -0.380 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.168 . . exonic exonic exonic . . 0.195 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.009 0.001 . . 37 . 0.304 . . 0.130 . . . 0.752 0.186 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.776 . . 0 0 0 0 0 0 . 0.532 . . 0.519 . . . . . . 0 0.682 . . . . . 0.165 . 0.590 . LowAF 0.02 . . . . . . . . . . . . . V.29 . . 1.I 1.I . 0.000000 . . . . . . 0.049 . . . 0 4.347e-06 0 0 5.894e-05 0 0 0 0 . . . . . . . . . . 0.133 . 0.924 0.924000 . . 0.000000 . . 1.0E-193 0.000 0.063 . 0.104 0.159 . 0.133 . 0.071 0.924 -0.180 . . . rs371438548 rs371438548 1 1538 10 1/0 0,161,255 +rs796519937 19 55286850 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286850 55286850 Chr19(GRCh37):g.55286850T>C 604 604 NM_014218.2:c.604T>C p.Phe202Leu p.Phe202Leu 4 604936 -61 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 VIII.25 0 Immunoglobulin subtype rs796519937 no no 0 0.000000 0 transition T C T>C 0.024 -0.117 F Phe TTC 0.546 L Leu CTC 0.197 202 7 5 Cow 1 0 0 0 0 5.II 4.IX 132 111 22 C0 259.64 IV.86 Tolerated 0.14 III.33 good 7.526E-2 0.08075 195 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T604C:p.F202L . . 0.14505495 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.160 . . 455.0 . . . . . . . . . . -0.9802 -1.146 -0.980 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.007 . . 0.475 . . . 0.235 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.707 . . 0 0 0 0 0 0 . 0.352 . . 0.253 . . . . . . 0 0.784 . . . . . 0.057 . 0.546 . LowAF 0.04 . . . . . . . . . . . . . 3.0354 . . 1.I -0.17 . 0.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.101 -0.101000 . . 0.000000 . . 9.999999999999999E-196 0.000 0.063 . 0.074 0.012 . 0.078 . 0.074 -0.101 -0.215 . . . . . 1 1538 10 1/0 0,165,255 +rs796519937 19 55286850 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55286850 55286850 Chr19(GRCh37):g.55286850T>C 604 604 NM_014219.2:c.604T>C p.Phe202Leu p.Phe202Leu 4 604937 -61 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 IX.76 0 rs796519937 no no 0 0.000000 0 transition T C T>C 0.024 -0.117 F Phe TTC 0.546 L Leu CTC 0.197 202 11 7 Horse 1 0 0 0 0 5.II 4.IX 132 111 22 C0 268.49 0.00 Tolerated 0.7 II.83 good 6.914E-1 0.4345 195 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T604C:p.F202L . . 0.14505495 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.160 . . 455.0 . . . . . . . . . . -0.9802 -1.146 -0.980 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.007 . . 0.475 . . . 0.235 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.707 . . 0 0 0 0 0 0 . 0.352 . . 0.253 . . . . . . 0 0.784 . . . . . 0.057 . 0.546 . LowAF 0.04 . . . . . . . . . . . . . 3.0354 . . 1.I -0.17 . 0.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.101 -0.101000 . . 0.000000 . . 9.999999999999999E-196 0.000 0.063 . 0.074 0.012 . 0.078 . 0.074 -0.101 -0.215 . . . . . 1 1538 10 1/0 0,165,255 +rs796519937 19 55286850 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286850 55286850 Chr19(GRCh37):g.55286850T>C *22822 *22822 NM_001291695.1:c.*22822T>C p.? p.? 8 604953 22966 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796519937 no no 0 0.000000 0 transition T C T>C 0.024 -0.117 195 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T604C:p.F202L . . 0.14505495 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.160 . . 455.0 . . . . . . . . . . -0.9802 -1.146 -0.980 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000125498 . KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.011 0.001 . . 37 . 0.007 . . 0.475 . . . 0.235 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.707 . . 0 0 0 0 0 0 . 0.352 . . 0.253 . . . . . . 0 0.784 . . . . . 0.057 . 0.546 . LowAF 0.04 . . . . . . . . . . . . . 3.0354 . . 1.I -0.17 . 0.000000 . . . . . . 0.018 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.101 -0.101000 . . 0.000000 . . 9.999999999999999E-196 0.000 0.063 . 0.074 0.012 . 0.078 . 0.074 -0.101 -0.215 . . . . . 1 1538 10 1/0 0,165,255 +rs666590 19 55286854 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55286854 55286854 Chr19(GRCh37):g.55286854A>G 608 608 NM_014218.2:c.608A>G p.His203Arg p.His203Arg 4 604936 -57 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.32477 0 Immunoglobulin subtype rs666590 yes no Frequency/1000G 2 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000136 0.001073 0.000124 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.001073 35 23 4 0 0 0 8 0 0 257850 21442 32222 8996 18532 27194 118876 24682 5906 0.000023 0.000187 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 3 2 0 0 0 0 1 0 0 29 19 4 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM359366|COSM359366|COSM359366|COSM359366|COSM359366 Thyroid|Lung|Large intestine|Central nervous system|Breast 0.001339|0.000419|0.000836|0.001247|0.000408 747|2388|2391|2405|2453 transition A G A>G 0.000 -1.489 H His CAT 0.413 R Arg CGT 0.082 203 7 1 0 0 0 0.58 0.65 10.IV 10.V 96 124 29 C0 127.28 0.00 Tolerated 0.69 3.I good 5.513E-1 0.3356 255 PASS . . . . . 0.003 0.0008 . . . . . . KIR2DL1:NM_014218:exon4:c.A608G:p.H203R . . 0.6712018 . . @ 296 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.023 . . 441.0 . . . . . . . . . . -1.7815 -1.911 -1.782 c . . . . . 1.288e-04 . . . 0.0004 6.925e-05 8.916e-05 0 0 2.47e-05 0 0 0.0005 5.886e-05 0 0 0 3.808e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.065 0.0008 . . . 0.13 0.18 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.415 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.183 . 0.277 . HET 1 . 0.054 0.051 . . . . . . . . . . V.66 2.77E-4 . 1.I -2.21 . 1.000000 . . . . . . 0.002 . . . 0.0007 8.244e-05 0.0001 0 0 0 4.736e-05 0 0 0.0018 0.0006 0 0 0 0 0.0002 0 . . 0.133 . -1.438 -1.438000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.008 . 0.001 -1.438 -1.387 0.054 rs666590 rs666590 rs666590 rs199779620 1 1538 10 1/0 0,206,209 +rs666590 (chr19:55286854 A/G) 19 55286854 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs666590 19 55286854 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286854 55286854 Chr19(GRCh37):g.55286854A>G *22826 *22826 NM_001291695.1:c.*22826A>G p.? p.? 8 604953 22970 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs666590 yes no Frequency/1000G 2 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000136 0.001073 0.000124 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.001073 35 23 4 0 0 0 8 0 0 257850 21442 32222 8996 18532 27194 118876 24682 5906 0.000023 0.000187 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 3 2 0 0 0 0 1 0 0 29 19 4 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM359366|COSM359366|COSM359366|COSM359366|COSM359366 Thyroid|Lung|Large intestine|Central nervous system|Breast 0.001339|0.000419|0.000836|0.001247|0.000408 747|2388|2391|2405|2453 transition A G A>G 0.000 -1.489 255 PASS . . . . . 0.003 0.0008 . . . . . . KIR2DL1:NM_014218:exon4:c.A608G:p.H203R . . 0.6712018 . . @ 296 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.023 . . 441.0 . . . . . . . . . . -1.7815 -1.911 -1.782 c . . . . . 1.288e-04 . . . 0.0004 6.925e-05 8.916e-05 0 0 2.47e-05 0 0 0.0005 5.886e-05 0 0 0 3.808e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.065 0.0008 . . . 0.13 0.18 182 ENSG00000125498 . KIR2DL1 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.004 . . 0.415 . . . . 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.016 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.183 . 0.277 . HET 1 . 0.054 0.051 . . . . . . . . . . V.66 2.77E-4 . 1.I -2.21 . 1.000000 . . . . . . 0.002 . . . 0.0007 8.244e-05 0.0001 0 0 0 4.736e-05 0 0 0.0018 0.0006 0 0 0 0 0.0002 0 . . 0.133 . -1.438 -1.438000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.008 . 0.001 -1.438 -1.387 0.054 rs666590 rs666590 rs666590 rs199779620 1 1538 10 1/0 0,206,209 +. 19 55286861 T A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55286861 55286861 Chr19(GRCh37):g.55286861T>A 615 615 NM_014218.2:c.615T>A p.Ser205= p.Ser205Ser 4 604936 -50 5' 90.6189 10.0684 0.991859 8.04333 90.6189 10.0684 0.991859 8.06078 0 Immunoglobulin subtype transversion T A T>A 0.000 -1.247 S Ser TCT 0.185 S Ser TCA 0.148 205 183 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T615A:p.S205S . . 0.11990408 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 417.0 . . . . . . . . . . -0.6480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,166,255 +. 19 55286861 T A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution synonymous exon GRCh37 55286861 55286861 Chr19(GRCh37):g.55286861T>A 615 615 NM_014219.2:c.615T>A p.Ser205= p.Ser205Ser 4 604937 -50 5' 90.6189 10.0684 0.991859 9.27842 90.6189 10.0684 0.991859 9.29588 0 transversion T A T>A 0.000 -1.247 S Ser TCT 0.185 S Ser TCA 0.148 205 183 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T615A:p.S205S . . 0.11990408 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 417.0 . . . . . . . . . . -0.6480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,166,255 +. 19 55286861 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55286861 55286861 Chr19(GRCh37):g.55286861T>A *22833 *22833 NM_001291695.1:c.*22833T>A p.? p.? 8 604953 22977 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion T A T>A 0.000 -1.247 183 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon4:c.T615A:p.S205S . . 0.11990408 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 417.0 . . . . . . . . . . -0.6480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000125498 . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,166,255 +rs75232650 19 55290108 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution missense exon GRCh37 55290108 55290108 Chr19(GRCh37):g.55290108A>G 709 709 NM_014218.2:c.709A>G p.Lys237Glu p.Lys237Glu 5 604936 -7 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995859 9.41521 -2.34287e-05 rs75232650 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000097 0.000000 0.000063 0.000000 0.000813 0.000120 0.000027 0.000042 0.000000 0.000813 24 0 2 0 15 3 3 1 0 246496 20204 31754 8634 18450 25006 112956 23830 5662 0.000049 0.000000 0.000063 0.000000 0.000325 0.000080 0.000018 0.000000 0.000000 6 0 1 0 3 1 1 0 0 12 0 0 0 9 1 1 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132538|COSM4132538 Thyroid|Large intestine 0.002677|0.000418 747|2391 transition A G A>G 0.000 -0.521 K Lys AAA 0.425 E Glu GAA 0.417 237 7 4 Mouse 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 260.21 16.18 Tolerated 0.37 III.33 good 1.352E-1 0.354 255 PASS . . . . . . 0.0002 . 0.001 . . . . KIR2DL1:NM_014218:exon5:c.A709G:p.K237E . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.086 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K237E|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.5) . . . . . . . -1.1641 -1.329 -1.164 c . . . . . 1.031e-04 . . . 0 8.787e-05 0.0002 0.0002 0 5.399e-05 0 0.0001 0 0.0001 0.0002 0.0006 0 4.121e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 0.0002 . . . 0.31 0.19 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.382 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.391 . . 0 0 0 0 0 0 . 0.067 . . 0.139 . . . . . . 0 0.262 . . . . . . . 0.232 . HET 0.09 . 0.076 0.087 . . . . . . . . . . . . . 0.569 -1.14 . 0.070000 . . . . . . 0.010 . . . 0 9.533e-05 6.45e-05 0 0.0007 4.845e-05 2.992e-05 0 0.0001 0 0.0001 0 0 0.0019 0 0 0 . . 0.133 . -0.542 -0.542000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.060 . 0.094 . 0.071 -0.542 0.167 0.076 . . rs75232650 rs201050156 1 1538 10 1/0 0,252,255 +rs75232650 19 55290108 A G - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution missense exon GRCh37 55290108 55290108 Chr19(GRCh37):g.55290108A>G 709 709 NM_014219.2:c.709A>G p.Lys237Glu p.Lys237Glu 5 604937 -7 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995859 9.02293 -2.34287e-05 rs75232650 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000097 0.000000 0.000063 0.000000 0.000813 0.000120 0.000027 0.000042 0.000000 0.000813 24 0 2 0 15 3 3 1 0 246496 20204 31754 8634 18450 25006 112956 23830 5662 0.000049 0.000000 0.000063 0.000000 0.000325 0.000080 0.000018 0.000000 0.000000 6 0 1 0 3 1 1 0 0 12 0 0 0 9 1 1 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132538|COSM4132538 Thyroid|Large intestine 0.002677|0.000418 747|2391 transition A G A>G 0.000 -0.521 K Lys AAA 0.425 E Glu GAA 0.417 237 11 5 Mouse 1 1 1 0.33 0.92 11.III 12.III 119 83 56 C0 353.86 0.00 Tolerated 0.26 II.99 good 6.861E-1 0.05307 255 PASS . . . . . . 0.0002 . 0.001 . . . . KIR2DL1:NM_014218:exon5:c.A709G:p.K237E . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.086 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K237E|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.5) . . . . . . . -1.1641 -1.329 -1.164 c . . . . . 1.031e-04 . . . 0 8.787e-05 0.0002 0.0002 0 5.399e-05 0 0.0001 0 0.0001 0.0002 0.0006 0 4.121e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 0.0002 . . . 0.31 0.19 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.382 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.391 . . 0 0 0 0 0 0 . 0.067 . . 0.139 . . . . . . 0 0.262 . . . . . . . 0.232 . HET 0.09 . 0.076 0.087 . . . . . . . . . . . . . 0.569 -1.14 . 0.070000 . . . . . . 0.010 . . . 0 9.533e-05 6.45e-05 0 0.0007 4.845e-05 2.992e-05 0 0.0001 0 0.0001 0 0 0.0019 0 0 0 . . 0.133 . -0.542 -0.542000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.060 . 0.094 . 0.071 -0.542 0.167 0.076 . . rs75232650 rs201050156 1 1538 10 1/0 0,252,255 +rs75232650 19 55290108 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290108 55290108 Chr19(GRCh37):g.55290108A>G *26080 *26080 NM_001291695.1:c.*26080A>G p.? p.? 8 604953 26224 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs75232650 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000097 0.000000 0.000063 0.000000 0.000813 0.000120 0.000027 0.000042 0.000000 0.000813 24 0 2 0 15 3 3 1 0 246496 20204 31754 8634 18450 25006 112956 23830 5662 0.000049 0.000000 0.000063 0.000000 0.000325 0.000080 0.000018 0.000000 0.000000 6 0 1 0 3 1 1 0 0 12 0 0 0 9 1 1 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM4132538|COSM4132538 Thyroid|Large intestine 0.002677|0.000418 747|2391 transition A G A>G 0.000 -0.521 255 PASS . . . . . . 0.0002 . 0.001 . . . . KIR2DL1:NM_014218:exon5:c.A709G:p.K237E . . 0.35227272 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.086 . . 88.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K237E|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.5) . . . . . . . -1.1641 -1.329 -1.164 c . . . . . 1.031e-04 . . . 0 8.787e-05 0.0002 0.0002 0 5.399e-05 0 0.0001 0 0.0001 0.0002 0.0006 0 4.121e-05 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 0.0002 . . . 0.31 0.19 182 ENSG00000125498 KIR2DL1 KIR2DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.005 0.001 . . 37 . 0.003 . . 0.382 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.391 . . 0 0 0 0 0 0 . 0.067 . . 0.139 . . . . . . 0 0.262 . . . . . . . 0.232 . HET 0.09 . 0.076 0.087 . . . . . . . . . . . . . 0.569 -1.14 . 0.070000 . . . . . . 0.010 . . . 0 9.533e-05 6.45e-05 0 0.0007 4.845e-05 2.992e-05 0 0.0001 0 0.0001 0 0 0.0019 0 0 0 . . 0.133 . -0.542 -0.542000 . . 0.070000 . . 1.0E-255 0.000 0.063 . 0.043 0.060 . 0.094 . 0.071 -0.542 0.167 0.076 . . rs75232650 rs201050156 1 1538 10 1/0 0,252,255 +rs2295806 19 55290150 C A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55290150 55290150 Chr19(GRCh37):g.55290150C>A 715+36 715+36 NM_014218.2:c.715+36C>A p.? p.? 5 5 604936 36 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995929 8.61943 0 rs2295806 yes no Frequency 1 0.000000 0 0.000081 0.000000 0.000000 0.000000 0.000272 0.000481 0.000027 0.000000 0.000000 0.000481 20 0 0 0 5 12 3 0 0 245930 20172 31650 8588 18416 24932 112750 23772 5650 0.000016 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 16 0 0 0 5 8 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.008 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.45614034 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6602 . . . . . . . . 2.233e-04 . . . 0 0.0002 0 0.0002 0 0.0001 0 0.0010 0 0.0002 0 0.0004 0 8.231e-05 0 0.0010 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.29 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.646e-05 0 0 0.0002 0 2.999e-05 0 0.0005 0 3.821e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295806 rs2295806 rs2295806 rs199829038 1 1538 10 1/0 0,248,255 +rs2295806 19 55290150 C A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55290150 55290150 Chr19(GRCh37):g.55290150C>A 715+36 715+36 NM_014219.2:c.715+36C>A p.? p.? 5 5 604937 36 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995929 8.0268 0 rs2295806 yes no Frequency 1 0.000000 0 0.000081 0.000000 0.000000 0.000000 0.000272 0.000481 0.000027 0.000000 0.000000 0.000481 20 0 0 0 5 12 3 0 0 245930 20172 31650 8588 18416 24932 112750 23772 5650 0.000016 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 16 0 0 0 5 8 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.008 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.45614034 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6602 . . . . . . . . 2.233e-04 . . . 0 0.0002 0 0.0002 0 0.0001 0 0.0010 0 0.0002 0 0.0004 0 8.231e-05 0 0.0010 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.29 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.646e-05 0 0 0.0002 0 2.999e-05 0 0.0005 0 3.821e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295806 rs2295806 rs2295806 rs199829038 1 1538 10 1/0 0,248,255 +rs2295806 19 55290150 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290150 55290150 Chr19(GRCh37):g.55290150C>A *26122 *26122 NM_001291695.1:c.*26122C>A p.? p.? 8 604953 26266 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2295806 yes no Frequency 1 0.000000 0 0.000081 0.000000 0.000000 0.000000 0.000272 0.000481 0.000027 0.000000 0.000000 0.000481 20 0 0 0 5 12 3 0 0 245930 20172 31650 8588 18416 24932 112750 23772 5650 0.000016 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000000 2 0 0 0 0 2 0 0 0 16 0 0 0 5 8 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.008 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.45614034 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 114.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6602 . . . . . . . . 2.233e-04 . . . 0 0.0002 0 0.0002 0 0.0001 0 0.0010 0 0.0002 0 0.0004 0 8.231e-05 0 0.0010 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.29 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.646e-05 0 0 0.0002 0 2.999e-05 0 0.0005 0 3.821e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295806 rs2295806 rs2295806 rs199829038 1 1538 10 1/0 0,248,255 +rs2295807 19 55290164 G A - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55290164 55290164 Chr19(GRCh37):g.55290164G>A 715+50 715+50 NM_014218.2:c.715+50G>A p.? p.? 5 5 604936 50 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995929 8.64099 0 rs2295807 yes no Frequency 1 0.000000 0 0.000147 0.000050 0.000000 0.002000 0.000109 0.000000 0.000133 0.000000 0.000177 0.002000 36 1 0 17 2 0 15 0 1 245332 20136 31506 8502 18384 24874 112556 23730 5644 0.000065 0.000000 0.000000 0.000706 0.000109 0.000000 0.000071 0.000000 0.000000 8 0 0 3 1 0 4 0 0 20 1 0 11 0 0 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.511811 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.5569 . . . . . . . . 1.975e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0002 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.33 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.551e-05 0.0001 0 0.0019 0.0001 0 0.0001 0 0 0 0.0003 0 0.0041 0 0 0.0004 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295807 rs2295807 rs2295807 rs201568641 1 1538 10 1/0 0,245,254 +rs2295807 19 55290164 G A - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55290164 55290164 Chr19(GRCh37):g.55290164G>A 715+50 715+50 NM_014219.2:c.715+50G>A p.? p.? 5 5 604937 50 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995929 8.04836 0 rs2295807 yes no Frequency 1 0.000000 0 0.000147 0.000050 0.000000 0.002000 0.000109 0.000000 0.000133 0.000000 0.000177 0.002000 36 1 0 17 2 0 15 0 1 245332 20136 31506 8502 18384 24874 112556 23730 5644 0.000065 0.000000 0.000000 0.000706 0.000109 0.000000 0.000071 0.000000 0.000000 8 0 0 3 1 0 4 0 0 20 1 0 11 0 0 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.511811 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.5569 . . . . . . . . 1.975e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0002 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.33 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.551e-05 0.0001 0 0.0019 0.0001 0 0.0001 0 0 0 0.0003 0 0.0041 0 0 0.0004 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295807 rs2295807 rs2295807 rs201568641 1 1538 10 1/0 0,245,254 +rs2295807 19 55290164 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290164 55290164 Chr19(GRCh37):g.55290164G>A *26136 *26136 NM_001291695.1:c.*26136G>A p.? p.? 8 604953 26280 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2295807 yes no Frequency 1 0.000000 0 0.000147 0.000050 0.000000 0.002000 0.000109 0.000000 0.000133 0.000000 0.000177 0.002000 36 1 0 17 2 0 15 0 1 245332 20136 31506 8502 18384 24874 112556 23730 5644 0.000065 0.000000 0.000000 0.000706 0.000109 0.000000 0.000071 0.000000 0.000000 8 0 0 3 1 0 4 0 0 20 1 0 11 0 0 7 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.511811 . . @ 65 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.5569 . . . . . . . . 1.975e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 0.0001 0 0 0 0.0002 0 0 . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.41 0.33 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.120 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . 7.551e-05 0.0001 0 0.0019 0.0001 0 0.0001 0 0 0 0.0003 0 0.0041 0 0 0.0004 0.0012 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 rs2295807 rs2295807 rs2295807 rs201568641 1 1538 10 1/0 0,245,254 +rs79050870 19 55290215 A C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55290215 55290215 Chr19(GRCh37):g.55290215A>C 715+101 715+101 NM_014218.2:c.715+101A>C p.? p.? 5 5 604936 101 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995929 9.01825 0 rs79050870 no no 0 0.000000 0 0.000076 0.000000 0.002646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002646 2 0 2 0 0 0 0 0 0 26172 6882 756 244 1538 0 12746 3174 832 0.500000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transversion A C A>C 0.000 -3.749 255 PASS . . . . . . . . . . . . . . . . 0.37984496 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.0656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.31 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.642e-05 0.0026 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79050870 rs200286701 1 1538 10 1/0 0,238,255 +rs79050870 19 55290215 A C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55290215 55290215 Chr19(GRCh37):g.55290215A>C 715+101 715+101 NM_014219.2:c.715+101A>C p.? p.? 5 5 604937 101 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995929 8.42562 0 rs79050870 no no 0 0.000000 0 0.000076 0.000000 0.002646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002646 2 0 2 0 0 0 0 0 0 26172 6882 756 244 1538 0 12746 3174 832 0.500000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transversion A C A>C 0.000 -3.749 255 PASS . . . . . . . . . . . . . . . . 0.37984496 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.0656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.31 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.642e-05 0.0026 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79050870 rs200286701 1 1538 10 1/0 0,238,255 +rs79050870 19 55290215 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290215 55290215 Chr19(GRCh37):g.55290215A>C *26187 *26187 NM_001291695.1:c.*26187A>C p.? p.? 8 604953 26331 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs79050870 no no 0 0.000000 0 0.000076 0.000000 0.002646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.002646 2 0 2 0 0 0 0 0 0 26172 6882 756 244 1538 0 12746 3174 832 0.500000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transversion A C A>C 0.000 -3.749 255 PASS . . . . . . . . . . . . . . . . 0.37984496 . . @ 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.0656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.35 0.31 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.642e-05 0.0026 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79050870 rs200286701 1 1538 10 1/0 0,238,255 +rs2295808 19 55290217 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55290217 55290217 Chr19(GRCh37):g.55290217T>C 715+103 715+103 NM_014218.2:c.715+103T>C p.? p.? 5 5 604936 103 5' 86.7234 X.83 0.995929 9.01825 86.7234 X.83 0.995929 9.01825 0 rs2295808 yes no Frequency 1 0.000000 0 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 0.000000 0.000236 3 0 0 0 0 0 3 0 0 26176 6898 748 244 1544 0 12732 3174 836 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.31 0.35 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs2295808 rs2295808 rs2295808 rs201081756 1 1538 10 1/0 0,251,254 +rs2295808 19 55290217 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55290217 55290217 Chr19(GRCh37):g.55290217T>C 715+103 715+103 NM_014219.2:c.715+103T>C p.? p.? 5 5 604937 103 5' 86.7234 X.83 0.995929 8.42562 86.7234 X.83 0.995929 8.42562 0 rs2295808 yes no Frequency 1 0.000000 0 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 0.000000 0.000236 3 0 0 0 0 0 3 0 0 26176 6898 748 244 1544 0 12732 3174 836 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.31 0.35 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs2295808 rs2295808 rs2295808 rs201081756 1 1538 10 1/0 0,251,254 +rs2295808 19 55290217 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55290217 55290217 Chr19(GRCh37):g.55290217T>C *26189 *26189 NM_001291695.1:c.*26189T>C p.? p.? 8 604953 26333 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2295808 yes no Frequency 1 0.000000 0 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000236 0.000000 0.000000 0.000236 3 0 0 0 0 0 3 0 0 26176 6898 748 244 1544 0 12732 3174 836 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 33 Genomes transition T C T>C 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.5952381 . . @ 75 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.6305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.31 0.35 182 ENSG00000215765 . KIR2DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs2295808 rs2295808 rs2295808 rs201081756 1 1538 10 1/0 0,251,254 +rs670771 19 55294931 T C - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution intron GRCh37 55294931 55294931 Chr19(GRCh37):g.55294931T>C 818-7 818-7 NM_014218.2:c.818-7T>C p.? p.? 7 6 604936 -7 3' 85.984 10.489 0.959938 XII.87 84.4733 10.923 0.945992 13.3697 0.00309303 rs670771 yes no Frequency/1000G 2 0.000000 0 0.003395 0.012100 0.000000 0.000000 0.000000 0.001400 0.001297 0.013811 0.000702 0.000000 0.000000 0.000068 0.000017 0.000000 0.000327 0.013811 343 314 23 0 0 2 2 0 2 264472 22736 32760 9336 18604 29444 120524 24944 6124 0.000181 0.002023 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 24 23 1 0 0 0 0 0 0 295 268 21 0 0 2 2 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8376 4256 12632 0 62 62 0 0.0143585 0.0048842 0 0.0143585 0.0048842 100 COSM6351248 Breast 0.000408 2453 transition T C T>C 0.008 -0.037 255 PASS . . . . . 0.012 0.0034 0.0014 . . . . . . . . 0.70258623 . . @ 163 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 232.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) 0.014 0.0049 . 0.014 0.0049 . . -0.4682 . . . . . . . . 1.292e-03 . . . 0.0137 0.0018 0.0009 0 0 7.416e-05 0 6.395e-05 0.0137 0.0013 0.0009 0 0 0 0 6.433e-05 . . . . . . ncRNA_intronic intronic intronic . . . 0.0034 . . . 0.32 0.32 182 ENSG00000215765 . KIR2DL1 . . . . . . 474 0.007295 64976 457 0.00761844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.029 . . . . . . . . . . . . . . . . . . 0 0 . 0.004884 . . . . . 0.0151 0.0011 0.0007 0 0 0 9.308e-06 0.0002 6.793e-05 0.0113 0.0033 0.0013 0 0 0 7.638e-05 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs670771 rs670771 rs670771 rs200877549 1 1538 10 1/0 0,222,218 +rs670771 19 55294931 T C - KIR2DL2 6330 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 NM_014219.2 1 1587 1047 NP_055034.2 P43627 substitution intron GRCh37 55294931 55294931 Chr19(GRCh37):g.55294931T>C 818-7 818-7 NM_014219.2:c.818-7T>C p.? p.? 7 6 604937 -7 3' 85.984 10.489 0.959938 XII.05 84.4733 10.923 0.945992 13.2414 0.00309303 rs670771 yes no Frequency/1000G 2 0.000000 0 0.003395 0.012100 0.000000 0.000000 0.000000 0.001400 0.001297 0.013811 0.000702 0.000000 0.000000 0.000068 0.000017 0.000000 0.000327 0.013811 343 314 23 0 0 2 2 0 2 264472 22736 32760 9336 18604 29444 120524 24944 6124 0.000181 0.002023 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 24 23 1 0 0 0 0 0 0 295 268 21 0 0 2 2 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8376 4256 12632 0 62 62 0 0.0143585 0.0048842 0 0.0143585 0.0048842 100 COSM6351248 Breast 0.000408 2453 transition T C T>C 0.008 -0.037 255 PASS . . . . . 0.012 0.0034 0.0014 . . . . . . . . 0.70258623 . . @ 163 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 232.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) 0.014 0.0049 . 0.014 0.0049 . . -0.4682 . . . . . . . . 1.292e-03 . . . 0.0137 0.0018 0.0009 0 0 7.416e-05 0 6.395e-05 0.0137 0.0013 0.0009 0 0 0 0 6.433e-05 . . . . . . ncRNA_intronic intronic intronic . . . 0.0034 . . . 0.32 0.32 182 ENSG00000215765 . KIR2DL1 . . . . . . 474 0.007295 64976 457 0.00761844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.029 . . . . . . . . . . . . . . . . . . 0 0 . 0.004884 . . . . . 0.0151 0.0011 0.0007 0 0 0 9.308e-06 0.0002 6.793e-05 0.0113 0.0033 0.0013 0 0 0 7.638e-05 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs670771 rs670771 rs670771 rs200877549 1 1538 10 1/0 0,222,218 +rs670771 19 55294931 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55294931 55294931 Chr19(GRCh37):g.55294931T>C *30903 *30903 NM_001291695.1:c.*30903T>C p.? p.? 8 604953 31047 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs670771 yes no Frequency/1000G 2 0.000000 0 0.003395 0.012100 0.000000 0.000000 0.000000 0.001400 0.001297 0.013811 0.000702 0.000000 0.000000 0.000068 0.000017 0.000000 0.000327 0.013811 343 314 23 0 0 2 2 0 2 264472 22736 32760 9336 18604 29444 120524 24944 6124 0.000181 0.002023 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 24 23 1 0 0 0 0 0 0 295 268 21 0 0 2 2 0 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8376 4256 12632 0 62 62 0 0.0143585 0.0048842 0 0.0143585 0.0048842 100 COSM6351248 Breast 0.000408 2453 transition T C T>C 0.008 -0.037 255 PASS . . . . . 0.012 0.0034 0.0014 . . . . . . . . 0.70258623 . . @ 163 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 232.0 . . INTRON(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) 0.014 0.0049 . 0.014 0.0049 . . -0.4682 . . . . . . . . 1.292e-03 . . . 0.0137 0.0018 0.0009 0 0 7.416e-05 0 6.395e-05 0.0137 0.0013 0.0009 0 0 0 0 6.433e-05 . . . . . . ncRNA_intronic intronic intronic . . . 0.0034 . . . 0.32 0.32 182 ENSG00000215765 . KIR2DL1 . . . . . . 474 0.007295 64976 457 0.00761844 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.033 0.029 . . . . . . . . . . . . . . . . . . 0 0 . 0.004884 . . . . . 0.0151 0.0011 0.0007 0 0 0 9.308e-06 0.0002 6.793e-05 0.0113 0.0033 0.0013 0 0 0 7.638e-05 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs670771 rs670771 rs670771 rs200877549 1 1538 10 1/0 0,222,218 +rs586234 19 55294969 A G - KIR2DL1 6329 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NM_014218.2 1 1598 1047 NP_055033.2 P43626 substitution synonymous exon GRCh37 55294969 55294969 Chr19(GRCh37):g.55294969A>G 849 849 NM_014218.2:c.849A>G p.Gly283= p.Gly283Gly 7 604936 -22 5' 86.8647 IX.15 0.995492 X.69 86.8647 IX.15 0.995492 X.01 0 rs586234 yes no Frequency/HapMap 2 0.000000 0 0.000008 0.000000 0.000031 0.000000 0.000000 0.000034 0.000000 0.000000 0.000000 0.000034 2 0 1 0 0 1 0 0 0 238872 15076 32426 9246 17064 29764 108248 21752 5296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 69 Exomes COSM6352253 Breast 0.000408 2453 transition A G A>G 0.000 -0.682 G Gly GGA 0.246 G Gly GGG 0.250 283 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon7:c.A849G:p.G283G . . 0.68582374 . . @ 179 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 261.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggG|G283|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.7) . . . . . . . -0.5292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.17 182 . . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.054 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.373e-06 3.084e-05 0 0 0 0 0 3.36e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.054 rs586234 rs586234 rs586234 rs202147559 1 1538 10 1/0 0,219,216 +rs586234 (chr19:55294969 A/G) 19 55294969 A G Transcript NM_014219.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) KIR2DL2 +rs586234 19 55294969 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55294969 55294969 Chr19(GRCh37):g.55294969A>G *30941 *30941 NM_001291695.1:c.*30941A>G p.? p.? 8 604953 31085 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs586234 yes no Frequency/HapMap 2 0.000000 0 0.000008 0.000000 0.000031 0.000000 0.000000 0.000034 0.000000 0.000000 0.000000 0.000034 2 0 1 0 0 1 0 0 0 238872 15076 32426 9246 17064 29764 108248 21752 5296 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 69 Exomes COSM6352253 Breast 0.000408 2453 transition A G A>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . KIR2DL1:NM_014218:exon7:c.A849G:p.G283G . . 0.68582374 . . @ 179 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 261.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggG|G283|KIR2DL1|mRNA|CODING|NM_014218|NM_014218.ex.7) . . . . . . . -0.5292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.23 0.17 182 . . KIR2DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.054 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.373e-06 3.084e-05 0 0 0 0 0 3.36e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.054 rs586234 rs586234 rs586234 rs202147559 1 1538 10 1/0 0,219,216 +rs200030491 19 55299780 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55299780 55299780 Chr19(GRCh37):g.55299780T>C *35752 *35752 NM_001291695.1:c.*35752T>C p.? p.? 8 604953 35896 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200030491 no no 0 T 0.000000 0 transition T C T>C 0.000 -3.588 197 PASS . . . . . . . . . . . . . . . . 0.15164836 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 455.0 . . DOWNSTREAM(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.0824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . 0.52 0.59 182 . . . . . dist\x3d4002\x3bdist\x3d15287 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . rs200030491 rs200030491 1 1538 10 1/0 0,165,255 +rs796719950 19 55299781 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55299781 55299781 Chr19(GRCh37):g.55299781G>C *35753 *35753 NM_001291695.1:c.*35753G>C p.? p.? 8 604953 35897 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796719950 no no 0 G 0.000000 0 transversion G C G>C 0.000 -1.570 196 PASS . . . . . . . . . . . . . . . . 0.14847161 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 458.0 . . DOWNSTREAM(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -0.5166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . . . . . . dist\x3d4003\x3bdist\x3d15286 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,165,255 +rs796962729 19 55299797 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55299797 55299797 Chr19(GRCh37):g.55299797C>T *35769 *35769 NM_001291695.1:c.*35769C>T p.? p.? 8 604953 35913 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796962729 no no 0 C 0.000000 0 transition C T C>T 0.000 -4.234 179 PASS . . . . . . . . . . . . . . . . 0.11134904 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 467.0 . . DOWNSTREAM(MODIFIER||||KIR2DL1|mRNA|CODING|NM_014218|) . . . . . . . -1.1244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intergenic . . . @ . . . . . . . . . . . dist\x3d4019\x3bdist\x3d15270 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,161,255 +rs604076 19 55315326 A C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55315326 55315326 Chr19(GRCh37):g.55315326A>C 41-20 41-20 NM_001080770.1:c.41-20A>C p.? p.? 2 1 604945 -20 3' 96.9454 X.14 0.994029 7.74947 96.9454 X.81 0.99406 8.24419 0.00668671 55315326 -72.6096 rs604076 yes no Frequency 1 C 0.000000 0 transversion A C A>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.61616164 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.3534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.21 0.18 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.141 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs604076 rs604076 rs604076 rs201754323 1 1538 10 1/0 0,255,255 +rs604076 19 55315326 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55315326 55315326 Chr19(GRCh37):g.55315326A>C *51298 *51298 NM_001291695.1:c.*51298A>C p.? p.? 8 604953 51442 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs604076 yes no Frequency 1 C 0.000000 0 transversion A C A>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.61616164 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 99.0 . . . . . . . . . . -0.3534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.21 0.18 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.141 0.188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs604076 rs604076 rs604076 rs201754323 1 1538 10 1/0 0,255,255 +rs597598 19 55315440 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55315440 55315440 Chr19(GRCh37):g.55315440A>G 76+59 76+59 NM_001080770.1:c.76+59A>G p.? p.? 2 2 604945 59 5' 82.5488 8.73118 0.987644 0.946637 82.5488 8.73118 0.987644 0.918784 0 rs597598 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.798722 0.851000 0.528600 0.940500 0.827000 0.832900 0.006947 0.011211 0.025641 0.000000 0.007353 0.000000 0.003863 0.015209 0.009709 0.025641 39 10 4 0 1 0 14 8 2 5614 892 156 74 136 0 3624 526 206 0.076923 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.125000 0.000000 3 0 2 0 0 0 0 1 0 33 10 0 0 1 0 14 6 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition A G A>G 0.000 -2.861 111 PASS . . . . . 0.85 0.8 0.83 0.94 0.83 0.53 . . . . . 0.9814815 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.9868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2013 . . . 0.19 0.15 182 . . KIR2DL4 . . . . . . 24572 0.37817 64976 21210 0.353583 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.804 0.739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0112 0.0069 0.0256 0 0.0074 0.0152 0.0039 0.0097 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.8 rs597598 rs597598 rs597598 rs145568516 1 1538 255 1.I 0,0,255 +rs597598 19 55315440 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55315440 55315440 Chr19(GRCh37):g.55315440A>G *51412 *51412 NM_001291695.1:c.*51412A>G p.? p.? 8 604953 51556 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs597598 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.798722 0.851000 0.528600 0.940500 0.827000 0.832900 0.006947 0.011211 0.025641 0.000000 0.007353 0.000000 0.003863 0.015209 0.009709 0.025641 39 10 4 0 1 0 14 8 2 5614 892 156 74 136 0 3624 526 206 0.076923 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 0.125000 0.000000 3 0 2 0 0 0 0 1 0 33 10 0 0 1 0 14 6 2 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition A G A>G 0.000 -2.861 111 PASS . . . . . 0.85 0.8 0.83 0.94 0.83 0.53 . . . . . 0.9814815 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.9868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2013 . . . 0.19 0.15 182 . . KIR2DL4 . . . . . . 24572 0.37817 64976 21210 0.353583 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.804 0.739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0112 0.0069 0.0256 0 0.0074 0.0152 0.0039 0.0097 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.8 rs597598 rs597598 rs597598 rs145568516 1 1538 255 1.I 0,0,255 +rs618835 19 55316329 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55316329 55316329 Chr19(GRCh37):g.55316329A>G 158 158 NM_001080770.1:c.158A>G p.Tyr53Cys p.Tyr53Cys 3 604945 82 3' 78.626 7.00293 0.95888 7.85391 78.626 7.00293 0.95888 7.85391 0 Immunoglobulin Immunoglobulin subtype rs618835 yes no Frequency/HapMap 2 G 0.000000 0 COSM6353651|COSM6353651 Lung|Breast 0.000419|0.000410 2388|2442 transition A G A>G 0.000 -0.763 Y Tyr TAT 0.438 C Cys TGT 0.448 53 7 3 Macaque -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C15 143.11 92.04 Tolerated 0.16 III.33 bad 6.085E-4 0.0006893 111 PASS . . . . . . . . . . . . . . . . 0.9588015 . . @ 256 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.266 . @ . . . . . 1 0.017 . . 267.0 . . . . . . . . . . -1.2125 -1.445 -1.212 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.123 . . exonic exonic exonic . . 0.054 @ . . . 0.22 0.17 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.012 . 709 0.0109117 64976 709 0.0118194 59986 Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.235 . . 0.092 . . . 0.450 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.615 . . 0.589 . . . . . . 0 0.357 . . . . . 0.120 . 0.336 . HOM 0.04 . 0.250 0.312 . . . . . . . . . . IV.31 . . I.42 -2.83 . 0.070000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.824 -0.824000 . . 0.070000 . . 1.0E-111 0.000 0.063 . 0.016 0.000 . 0.034 . 0.002 -0.824 -2.204 0.25 rs55761930 rs55761930 rs618835 rs117677969 1 1538 255 1.I 0,0,255 +rs618835 19 55316329 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55316329 55316329 Chr19(GRCh37):g.55316329A>G *52301 *52301 NM_001291695.1:c.*52301A>G p.? p.? 8 604953 52445 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs618835 yes no Frequency/HapMap 2 G 0.000000 0 COSM6353651|COSM6353651 Lung|Breast 0.000419|0.000410 2388|2442 transition A G A>G 0.000 -0.763 111 PASS . . . . . . . . . . . . . . . . 0.9588015 . . @ 256 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.266 . @ . . . . . 1 0.017 . . 267.0 . . . . . . . . . . -1.2125 -1.445 -1.212 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.123 . . exonic exonic exonic . . 0.054 @ . . . 0.22 0.17 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.012 . 709 0.0109117 64976 709 0.0118194 59986 Uncertain_significance . 0 . . . . . . T 0.010 0.001 . . 37 . 0.235 . . 0.092 . . . 0.450 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.569 . . 0 0 0 0 0 0 . 0.615 . . 0.589 . . . . . . 0 0.357 . . . . . 0.120 . 0.336 . HOM 0.04 . 0.250 0.312 . . . . . . . . . . IV.31 . . I.42 -2.83 . 0.070000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.824 -0.824000 . . 0.070000 . . 1.0E-111 0.000 0.063 . 0.016 0.000 . 0.034 . 0.002 -0.824 -2.204 0.25 rs55761930 rs55761930 rs618835 rs117677969 1 1538 255 1.I 0,0,255 +. 19 55317395 TCTC T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 deletion intron GRCh37 55317398 55317400 Chr19(GRCh37):g.55317398_55317400del 362-8 362-6 NM_001080770.1:c.362-8_362-6del p.? p.? 4 3 604945 -6 3' 95.1486 13.6334 0.990721 15.5117 90.9029 X.11 0.92409 X.68 -0.120478 CCT 255 Pass . . . . . . . . . . . . . . . . 0.21019109 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,68 +. 19 55317395 TCTC T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 deletion downstream GRCh37 55317398 55317400 Chr19(GRCh37):g.55317398_55317400del *53370 *53372 NM_001291695.1:c.*53370_*53372del p.? p.? 8 604953 53514 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 CCT 255 Pass . . . . . . . . . . . . . . . . 0.21019109 . . . 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,68 +rs548305067 19 55317412 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317412 55317412 Chr19(GRCh37):g.55317412A>T 368 368 NM_001080770.1:c.368A>T p.Tyr123Phe p.Tyr123Phe 4 604945 7 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.989653 14.8624 -0.000359334 rs548305067 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.117 Y Tyr TAT 0.438 F Phe TTT 0.454 123 7 5 Mouse 3 3 4 0.2 0 6.II 5.II 136 132 22 C0 143.11 21.23 Tolerated 0.6 III.33 bad 6.618E-4 0.0008124 206 PASS . . . . . . . . . . . . . . . . 0.17435898 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.163 . . 195.0 . . . . . . . . . . -0.9496 -1.119 -0.950 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.017 . . 0.417 . . . 0.469 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.628 . . 0 0 0 0 0 0 . 0.279 . . 0.402 . . . . . . 0 0.330 . . . . . 0.080 . 0.271 . HET 0.08 . . . . . . . . . . . . . III.81 . . 1.V -0.172 . 0.090000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.120 -0.120000 . . 0.090000 . . 1.0E-206 0.000 0.063 . 0.043 0.041 . 0.084 . 0.093 -0.120 0.804 . . . . . 1 1538 10 1/0 0,204,255 +rs548305067 19 55317412 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317412 55317412 Chr19(GRCh37):g.55317412A>T *53384 *53384 NM_001291695.1:c.*53384A>T p.? p.? 8 604953 53528 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs548305067 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.117 206 PASS . . . . . . . . . . . . . . . . 0.17435898 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.056 . @ . . . . . 1 0.163 . . 195.0 . . . . . . . . . . -0.9496 -1.119 -0.950 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.126 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.001 0.000 . . 37 . 0.017 . . 0.417 . . . 0.469 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.628 . . 0 0 0 0 0 0 . 0.279 . . 0.402 . . . . . . 0 0.330 . . . . . 0.080 . 0.271 . HET 0.08 . . . . . . . . . . . . . III.81 . . 1.V -0.172 . 0.090000 . . . . . . 0.017 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.120 -0.120000 . . 0.090000 . . 1.0E-206 0.000 0.063 . 0.043 0.041 . 0.084 . 0.093 -0.120 0.804 . . . . . 1 1538 10 1/0 0,204,255 +rs796298317 19 55317415 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317415 55317415 Chr19(GRCh37):g.55317415A>G 371 371 NM_001080770.1:c.371A>G p.Glu124Gly p.Glu124Gly 4 604945 10 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.991943 15.1434 0.000411148 rs796298317 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 E Glu GAG 0.583 G Gly GGG 0.250 124 7 3 Macaque -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 128.69 28.37 Tolerated 0.17 III.33 good 3.484E-1 0.01528 209 PASS . . . . . . . . . . . . . . . . 0.1826923 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.067 . @ . . . . . 1 0.171 . . 208.0 . . . . . . . . . . -1.2665 -1.382 -1.266 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.130 . . exonic exonic exonic . . 0.081 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.007 . . 0.431 . . . 0.049 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.710 . . 0 0 0 0 0 0 . 0.131 . . 0.112 . . . . . . 0 0.276 . . . . . 0.104 . 0.235 . HET 0.15 . . . . . . . . . . . . . IV.43 . . 1.V -1.55 . 0.180000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.654 -0.654000 . . 0.180000 . . 1.0E-209 0.000 0.063 . 0.062 0.033 . 0.065 . 0.010 -0.654 0.679 . . . . . 1 1538 10 1/0 0,202,255 +rs796298317 19 55317415 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317415 55317415 Chr19(GRCh37):g.55317415A>G *53387 *53387 NM_001291695.1:c.*53387A>G p.? p.? 8 604953 53531 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796298317 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 209 PASS . . . . . . . . . . . . . . . . 0.1826923 . . @ 38 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.067 . @ . . . . . 1 0.171 . . 208.0 . . . . . . . . . . -1.2665 -1.382 -1.266 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.130 . . exonic exonic exonic . . 0.081 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.006 0.001 . . 37 . 0.007 . . 0.431 . . . 0.049 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.710 . . 0 0 0 0 0 0 . 0.131 . . 0.112 . . . . . . 0 0.276 . . . . . 0.104 . 0.235 . HET 0.15 . . . . . . . . . . . . . IV.43 . . 1.V -1.55 . 0.180000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.654 -0.654000 . . 0.180000 . . 1.0E-209 0.000 0.063 . 0.062 0.033 . 0.065 . 0.010 -0.654 0.679 . . . . . 1 1538 10 1/0 0,202,255 +rs201419800 19 55317425 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317425 55317425 Chr19(GRCh37):g.55317425G>A 381 381 NM_001080770.1:c.381G>A p.Ser127= p.Ser127Ser 4 604945 20 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.993014 15.47 0.000771492 rs201419800 yes no Frequency 1 G 0.000000 0 0.000204 0.000000 0.000191 0.009662 0.000000 0.000000 0.000112 0.000000 0.000000 0.009662 13 0 1 8 0 0 4 0 0 63800 8006 5240 828 4378 3610 35602 4922 1214 0.000031 0.000000 0.000000 0.002415 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 11 0 1 6 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.458 S Ser TCG 0.056 S Ser TCA 0.148 127 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . . . . . . . . . -1.0552 . . . . . . . . 1.304e-04 . . . 0 0.0007 0.0007 0 0 0.0014 0 0 0 0.0003 0.0007 0 0 0.0004 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.27 182 ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0.0093 0 0 9.682e-05 0 0 0 0.0002 0 0.0128 0 0 0.0002 0 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs201419800 rs201419800 1 1538 10 1/0 0,197,255 +rs201419800 19 55317425 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317425 55317425 Chr19(GRCh37):g.55317425G>A *53397 *53397 NM_001291695.1:c.*53397G>A p.? p.? 8 604953 53541 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs201419800 yes no Frequency 1 G 0.000000 0 0.000204 0.000000 0.000191 0.009662 0.000000 0.000000 0.000112 0.000000 0.000000 0.009662 13 0 1 8 0 0 4 0 0 63800 8006 5240 828 4378 3610 35602 4922 1214 0.000031 0.000000 0.000000 0.002415 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 0 1 0 0 0 0 0 11 0 1 6 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -2.458 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . . . . . . . . . -1.0552 . . . . . . . . 1.304e-04 . . . 0 0.0007 0.0007 0 0 0.0014 0 0 0 0.0003 0.0007 0 0 0.0004 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.27 182 ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0.0093 0 0 9.682e-05 0 0 0 0.0002 0 0.0128 0 0 0.0002 0 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs201419800 rs201419800 1 1538 10 1/0 0,197,255 +rs778634886 19 55317428 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317428 55317428 Chr19(GRCh37):g.55317428T>C 384 384 NM_001080770.1:c.384T>C p.Leu128= p.Leu128Leu 4 604945 23 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 16.0181 0 rs778634886 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 0.044 L Leu CTT 0.129 L Leu CTC 0.197 128 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . . . . . . . . . -0.4122 . . . . . . . . 1.007e-05 . . . 0 7.904e-05 0.0007 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,255 +rs778634886 19 55317428 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317428 55317428 Chr19(GRCh37):g.55317428T>C *53400 *53400 NM_001291695.1:c.*53400T>C p.? p.? 8 604953 53544 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs778634886 yes no Frequency 1 T 0.000000 0 transition T C T>C 0.000 0.044 206 PASS . . . . . . . . . . . . . . . . 0.1754386 . . @ 40 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 228.0 . . . . . . . . . . -0.4122 . . . . . . . . 1.007e-05 . . . 0 7.904e-05 0.0007 0 0 0 0 0 . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,197,255 +rs748394765 19 55317429 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317429 55317429 Chr19(GRCh37):g.55317429A>T 385 385 NM_001080770.1:c.385A>T p.Thr129Ser p.Thr129Ser 4 604945 24 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.4226 0 rs748394765 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.117 T Thr ACA 0.280 S Ser TCA 0.148 129 7 2 Chimp 2 1 2 0.71 I.42 8.VI 9.II 61 32 58 C0 103.68 0.00 Tolerated 1 III.33 good 9.477E-1 0.002708 202 PASS . . . . . . . . . . . . . . . . 0.16386555 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.048 . . 238.0 . . . . . . . . . . -2.0188 -1.944 -2.019 c . . . . . 1.007e-05 . . . 0 7.867e-05 0.0007 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.131 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.007 . . . . T 0.087 0.004 . . 37 . 0.019 . . 0.502 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.135 . . 0.040 . . . . . . 0 0.010 . . . . . 0.060 . 0.005 . HET 1 . . . . . . . . . . . . . 3.1338 . . 1.V -0.0469 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.086 -0.086000 . . 1.000000 . . 1.0E-202 0.002 0.151 . 0.043 0.001 . 0.186 . 0.081 -0.086 -0.152 . . . . . 1 1538 10 1/0 0,194,255 +rs748394765 19 55317429 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317429 55317429 Chr19(GRCh37):g.55317429A>T *53401 *53401 NM_001291695.1:c.*53401A>T p.? p.? 8 604953 53545 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs748394765 yes no Frequency 1 A 0.000000 0 transversion A T A>T 0.000 -0.117 202 PASS . . . . . . . . . . . . . . . . 0.16386555 . . @ 39 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.048 . . 238.0 . . . . . . . . . . -2.0188 -1.944 -2.019 c . . . . . 1.007e-05 . . . 0 7.867e-05 0.0007 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.119 . . exonic exonic exonic . . 0.131 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.007 . . . . T 0.087 0.004 . . 37 . 0.019 . . 0.502 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.135 . . 0.040 . . . . . . 0 0.010 . . . . . 0.060 . 0.005 . HET 1 . . . . . . . . . . . . . 3.1338 . . 1.V -0.0469 . 1.000000 . . . . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.086 -0.086000 . . 1.000000 . . 1.0E-202 0.002 0.151 . 0.043 0.001 . 0.186 . 0.081 -0.086 -0.152 . . . . . 1 1538 10 1/0 0,194,255 +rs202246882 19 55317436 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317436 55317436 Chr19(GRCh37):g.55317436G>A 392 392 NM_001080770.1:c.392G>A p.Arg131Gln p.Arg131Gln 4 604945 31 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.3381 0 Immunoglobulin subtype rs202246882 yes no Frequency 1 G 0.000000 0 0.000105 0.000139 0.000219 0.000000 0.000000 0.000596 0.000063 0.000000 0.000000 0.000596 6 1 1 0 0 2 2 0 0 57144 7184 4574 738 3950 3356 31798 4450 1094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.682 R Arg CGG 0.207 Q Gln CAG 0.744 131 7 2 Chimp 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 116.23 0.00 Tolerated 0.52 III.33 good 9.849E-1 0.1106 229 PASS . . . . . . . . . . . . . . . . 0.23958333 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.100 . . 288.0 . . . . . . . . . . -2.1737 -2.128 -2.174 c . . . . . 8.078e-05 . . . 0 0.0004 0.0013 0 0 0.0002 0 0.0016 0 0.0003 0.0007 0 0 0.0003 0 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.071 @ . . . 0.22 0.26 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.049 . . . . T 0.010 0.001 . . 37 . 0.013 . . 0.407 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.170 . . 0.040 . . . . . . 0 0.010 . . . . . 0.022 . 0.023 . HET 1 . . . . . . . . . . . . . I.57 . . 1.V -1.94 . 1.000000 . . . . . . 0.003 . . . 0 0.0001 0.0002 0 0 0 7.126e-05 0 0.0006 0.0004 0.0001 0 0 0 0 0 0 . . 0.133 . -0.822 -0.822000 . . 1.000000 . . 1.0E-229 0.000 0.063 . 0.074 0.002 . 0.022 . 0.090 -0.822 -1.403 . . . rs75193313 rs202246882 1 1538 10 1/0 0,193,251 +rs202246882 19 55317436 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317436 55317436 Chr19(GRCh37):g.55317436G>A *53408 *53408 NM_001291695.1:c.*53408G>A p.? p.? 8 604953 53552 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs202246882 yes no Frequency 1 G 0.000000 0 0.000105 0.000139 0.000219 0.000000 0.000000 0.000596 0.000063 0.000000 0.000000 0.000596 6 1 1 0 0 2 2 0 0 57144 7184 4574 738 3950 3356 31798 4450 1094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -0.682 229 PASS . . . . . . . . . . . . . . . . 0.23958333 . . @ 69 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.100 . . 288.0 . . . . . . . . . . -2.1737 -2.128 -2.174 c . . . . . 8.078e-05 . . . 0 0.0004 0.0013 0 0 0.0002 0 0.0016 0 0.0003 0.0007 0 0 0.0003 0 0.0016 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.116 . . exonic exonic exonic . . 0.071 @ . . . 0.22 0.26 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.049 . . . . T 0.010 0.001 . . 37 . 0.013 . . 0.407 . . . 0.000 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.005 . . 0 0 0 0 0 0 . 0.170 . . 0.040 . . . . . . 0 0.010 . . . . . 0.022 . 0.023 . HET 1 . . . . . . . . . . . . . I.57 . . 1.V -1.94 . 1.000000 . . . . . . 0.003 . . . 0 0.0001 0.0002 0 0 0 7.126e-05 0 0.0006 0.0004 0.0001 0 0 0 0 0 0 . . 0.133 . -0.822 -0.822000 . . 1.000000 . . 1.0E-229 0.000 0.063 . 0.074 0.002 . 0.022 . 0.090 -0.822 -1.403 . . . rs75193313 rs202246882 1 1538 10 1/0 0,193,251 +rs796139593 19 55317489 C A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317489 55317489 Chr19(GRCh37):g.55317489C>A 445 445 NM_001080770.1:c.445C>A p.Gln149Lys p.Gln149Lys 4 604945 84 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs796139593 no no 0 C 0.000000 0 transversion C A C>A 0.000 -1.812 Q Gln CAG 0.744 K Lys AAG 0.575 149 7 1 1 1 2 0.89 0.33 10.V 11.III 85 119 53 C0 95.81 21.98 Tolerated 0.52 III.33 good 8.728E-1 0.07819 228 PASS . . . . . . . . . . . . . . . . 0.23569794 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.056 . . 437.0 . . . . . . . . . . -1.4929 -1.679 -1.493 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.123 . . exonic exonic exonic . . 0.068 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.003 0.001 . . 37 . 0.174 . . 0.258 . . . 0.299 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.228 . . 0.266 . . . . . . 0 0.524 . . . . . 0.099 . 0.178 . HET 0.01 . . . . . . . . . . . . . IV.31 . . 1.IV -2.07 . 0.060000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.920 -1.920000 . . 0.060000 . . 1.0E-228 0.000 0.063 . 0.016 0.001 . 0.016 . 0.000 -1.920 -0.304 . . . . . 1 1538 10 1/0 0,175,245 +rs796139593 19 55317489 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317489 55317489 Chr19(GRCh37):g.55317489C>A *53461 *53461 NM_001291695.1:c.*53461C>A p.? p.? 8 604953 53605 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796139593 no no 0 C 0.000000 0 transversion C A C>A 0.000 -1.812 228 PASS . . . . . . . . . . . . . . . . 0.23569794 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.056 . . 437.0 . . . . . . . . . . -1.4929 -1.679 -1.493 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.123 . . exonic exonic exonic . . 0.068 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.060 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.003 0.001 . . 37 . 0.174 . . 0.258 . . . 0.299 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.229 . . 0 0 0 0 0 0 . 0.228 . . 0.266 . . . . . . 0 0.524 . . . . . 0.099 . 0.178 . HET 0.01 . . . . . . . . . . . . . IV.31 . . 1.IV -2.07 . 0.060000 . . . . . . 0.009 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.920 -1.920000 . . 0.060000 . . 1.0E-228 0.000 0.063 . 0.016 0.001 . 0.016 . 0.000 -1.920 -0.304 . . . . . 1 1538 10 1/0 0,175,245 +rs746343340 19 55317490 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317490 55317490 Chr19(GRCh37):g.55317490A>G 446 446 NM_001080770.1:c.446A>G p.Gln149Arg p.Gln149Arg 4 604945 85 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs746343340 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14392 1780 1214 206 922 1354 7946 706 264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 92 Exomes transition A G A>G 0.000 -1.570 Q Gln CAG 0.744 R Arg CGG 0.207 149 7 1 1 1 1 0.89 0.65 10.V 10.V 85 124 43 C0 95.81 0.00 Tolerated 0.53 III.33 good 4.607E-1 0.07819 231 PASS . . . . . . . . . . . . . . . . 0.2448037 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.003 . . 433.0 . . . . . . . . . . -2.1697 -2.207 -2.170 c . . . . . 1.189e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.075 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.005 0.001 . . 37 . 0.058 . . 0.346 . . . 0.029 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.112 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 0 0.010 . . . . . 0.208 . 0.081 . HET 1 . . . . . . . . . . . . . VI.45 . . 1.V -1.76 . 1.000000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.632 -1.632000 . . 1.000000 . . 1.0E-231 0.000 0.063 . 0.016 0.001 . 0.115 . 0.005 -1.632 -0.066 . . . . . 1 1538 10 1/0 0,176,243 +rs746343340 19 55317490 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317490 55317490 Chr19(GRCh37):g.55317490A>G *53462 *53462 NM_001291695.1:c.*53462A>G p.? p.? 8 604953 53606 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs746343340 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14392 1780 1214 206 922 1354 7946 706 264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 92 Exomes transition A G A>G 0.000 -1.570 231 PASS . . . . . . . . . . . . . . . . 0.2448037 . . @ 106 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.005 . @ . . . . . 1 0.003 . . 433.0 . . . . . . . . . . -2.1697 -2.207 -2.170 c . . . . . 1.189e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.125 . . exonic exonic exonic . . 0.075 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.052 . . . . . . . Uncertain_significance . 0 . 0.034 . . . . T 0.005 0.001 . . 37 . 0.058 . . 0.346 . . . 0.029 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.112 . . 0 0 0 0 0 0 . 0.112 . . 0.179 . . . . . . 0 0.010 . . . . . 0.208 . 0.081 . HET 1 . . . . . . . . . . . . . VI.45 . . 1.V -1.76 . 1.000000 . . . . . . 0.010 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.632 -1.632000 . . 1.000000 . . 1.0E-231 0.000 0.063 . 0.016 0.001 . 0.115 . 0.005 -1.632 -0.066 . . . . . 1 1538 10 1/0 0,176,243 +rs113248048 19 55317497 C A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317497 55317497 Chr19(GRCh37):g.55317497C>A 453 453 NM_001080770.1:c.453C>A p.Ser151= p.Ser151Ser 4 604945 92 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs113248048 no no 0 C 0.000000 0 transversion C A C>A 0.000 -2.942 S Ser TCC 0.220 S Ser TCA 0.148 151 227 PASS . . . . . . . . . . . . . . . . 0.2337963 . . @ 101 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 432.0 . . . . . . . . . . -0.8347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.13 0.29 182 ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs113248048 rs113248048 1 1538 10 1/0 0,175,245 +rs113248048 19 55317497 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317497 55317497 Chr19(GRCh37):g.55317497C>A *53469 *53469 NM_001291695.1:c.*53469C>A p.? p.? 8 604953 53613 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs113248048 no no 0 C 0.000000 0 transversion C A C>A 0.000 -2.942 227 PASS . . . . . . . . . . . . . . . . 0.2337963 . . @ 101 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 432.0 . . . . . . . . . . -0.8347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.13 0.29 182 ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs113248048 rs113248048 1 1538 10 1/0 0,175,245 +rs112266387 19 55317506 C G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317506 55317506 Chr19(GRCh37):g.55317506C>G 462 462 NM_001080770.1:c.462C>G p.Ile154Met p.Ile154Met 4 604945 101 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs112266387 no no 0 C 0.000000 0 transversion C G C>G 0.000 -4.395 I Ile ATC 0.481 M Met ATG 1.000 154 7 2 Chimp 2 1 2 0 0 5.II 5.VII 111 105 10 C0 152.61 0.00 Tolerated 0.33 III.33 good 8.554E-1 0.3386 224 PASS . . . . . . . . . . . . . . . . 0.22294372 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.017 . . 462.0 . . . . . . . . . . -2.5944 -2.648 -2.594 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.121 . . exonic exonic exonic . . 0.068 @ . . . 0.15 0.29 182 ENSG00000189013 . KIR2DL4 . . . 0.947 0.277 . . . . . . . Uncertain_significance . 0 . 0.016 . . . . T 0.002 0.001 . . 37 . 0.063 . . 0.409 . . . 0.009 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.174 . . 0.253 . . . . . . 0 0.010 . . . . . 0.117 . 0.088 . HET 1 . . . . . . . . . . . . . 4.VI . . 1.V -2.09 . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -4.463 -4.463000 . . 1.000000 . . 1.0E-224 0.000 0.063 . 0.043 0.000 . 0.028 . 0.012 -4.463 -1.928 . . . rs112266387 rs112266387 1 1538 10 1/0 0,171,245 +rs112266387 19 55317506 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317506 55317506 Chr19(GRCh37):g.55317506C>G *53478 *53478 NM_001291695.1:c.*53478C>G p.? p.? 8 604953 53622 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs112266387 no no 0 C 0.000000 0 transversion C G C>G 0.000 -4.395 224 PASS . . . . . . . . . . . . . . . . 0.22294372 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.000 . @ . . . . . 1 0.017 . . 462.0 . . . . . . . . . . -2.5944 -2.648 -2.594 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.121 . . exonic exonic exonic . . 0.068 @ . . . 0.15 0.29 182 ENSG00000189013 . KIR2DL4 . . . 0.947 0.277 . . . . . . . Uncertain_significance . 0 . 0.016 . . . . T 0.002 0.001 . . 37 . 0.063 . . 0.409 . . . 0.009 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.038 . . 0 0 0 0 0 0 . 0.174 . . 0.253 . . . . . . 0 0.010 . . . . . 0.117 . 0.088 . HET 1 . . . . . . . . . . . . . 4.VI . . 1.V -2.09 . 1.000000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -4.463 -4.463000 . . 1.000000 . . 1.0E-224 0.000 0.063 . 0.043 0.000 . 0.028 . 0.012 -4.463 -1.928 . . . rs112266387 rs112266387 1 1538 10 1/0 0,171,245 +rs540514355 19 55317528 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317528 55317528 Chr19(GRCh37):g.55317528G>A 484 484 NM_001080770.1:c.484G>A p.Glu162Lys p.Glu162Lys 4 604945 123 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs540514355 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18600 2782 3584 444 2128 1894 6982 254 532 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 82 Exomes transition G A G>A 0.008 -0.037 E Glu GAA 0.417 K Lys AAA 0.425 162 7 4 Cow 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 126.69 0.00 Tolerated 0.64 III.33 good 6.703E-1 0.5508 207 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.17567568 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.347 . . 444.0 . . . . . . . . . . -0.8667 -1.080 -0.867 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.124 . . exonic exonic exonic . . 0.130 0.0002 . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.120 . . 0.229 . . . 0.408 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.461 . . 0.356 . . . . . . 0 0.682 . . . . . 0.066 . 0.129 . HET 0.11 . . . . . . . . . . . . . III.45 . . 1.V -0.0737 . 0.000000 . . . . . . 0.015 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . 0.009 0.009000 . . 0.000000 . . 1.0E-207 0.007 0.175 . 0.043 0.037 . 0.233 . 0.012 0.009 0.697 . . . . . 1 1538 10 1/0 0,169,255 +rs540514355 19 55317528 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317528 55317528 Chr19(GRCh37):g.55317528G>A *53500 *53500 NM_001291695.1:c.*53500G>A p.? p.? 8 604953 53644 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs540514355 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18600 2782 3584 444 2128 1894 6982 254 532 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 82 Exomes transition G A G>A 0.008 -0.037 207 PASS . . . . . . 0.0002 . 0.001 . . . . . . . 0.17567568 . . @ 78 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.347 . . 444.0 . . . . . . . . . . -0.8667 -1.080 -0.867 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.124 . . exonic exonic exonic . . 0.130 0.0002 . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.004 0.001 . . 37 . 0.120 . . 0.229 . . . 0.408 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.461 . . 0.356 . . . . . . 0 0.682 . . . . . 0.066 . 0.129 . HET 0.11 . . . . . . . . . . . . . III.45 . . 1.V -0.0737 . 0.000000 . . . . . . 0.015 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . 0.009 0.009000 . . 0.000000 . . 1.0E-207 0.007 0.175 . 0.043 0.037 . 0.233 . 0.012 0.009 0.697 . . . . . 1 1538 10 1/0 0,169,255 +rs796093143 19 55317529 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317529 55317529 Chr19(GRCh37):g.55317529A>G 485 485 NM_001080770.1:c.485A>G p.Glu162Gly p.Glu162Gly 4 604945 124 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs796093143 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 E Glu GAA 0.417 G Gly GGA 0.246 162 7 4 Cow -2 -2 -4 0.92 0.74 12.III 9 83 3 98 C0 126.69 81.06 Tolerated 0.21 III.33 good 3.101E-2 0.5508 212 PASS . . . . . . . . . . . . . . . . 0.19088937 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.095 . . 461.0 . . . . . . . . . . -1.4994 -1.623 -1.499 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.085 . . 0.367 . . . 0.215 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.760 . . 0 0 0 0 0 0 . 0.226 . . 0.260 . . . . . . 0 0.348 . . . . . 0.037 . 0.071 . HET 0.17 . . . . . . . . . . . . . 2.213 . . 1.V -1.93 . 0.120000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.753 -0.753000 . . 0.120000 . . 1.0E-212 0.000 0.063 . 0.016 0.016 . 0.016 . 0.003 -0.753 -0.504 . . . . . 1 1538 10 1/0 0,169,255 +rs796093143 19 55317529 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317529 55317529 Chr19(GRCh37):g.55317529A>G *53501 *53501 NM_001291695.1:c.*53501A>G p.? p.? 8 604953 53645 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796093143 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.682 212 PASS . . . . . . . . . . . . . . . . 0.19088937 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.027 . @ . . . . . 1 0.095 . . 461.0 . . . . . . . . . . -1.4994 -1.623 -1.499 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.132 . . exonic exonic exonic . . 0.071 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.085 . . 0.367 . . . 0.215 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.760 . . 0 0 0 0 0 0 . 0.226 . . 0.260 . . . . . . 0 0.348 . . . . . 0.037 . 0.071 . HET 0.17 . . . . . . . . . . . . . 2.213 . . 1.V -1.93 . 0.120000 . . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.753 -0.753000 . . 0.120000 . . 1.0E-212 0.000 0.063 . 0.016 0.016 . 0.016 . 0.003 -0.753 -0.504 . . . . . 1 1538 10 1/0 0,169,255 +rs796666015 19 55317530 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317530 55317530 Chr19(GRCh37):g.55317530A>G 486 486 NM_001080770.1:c.486A>G p.Glu162= p.Glu162Glu 4 604945 125 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs796666015 no no 0 A 0.000000 0 transition A G A>G 0.000 -1.086 E Glu GAA 0.417 E Glu GAG 0.583 162 219 PASS . . . . . . . . . . . . . . . . 0.20952381 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 420.0 . . . . . . . . . . -0.7251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,174,255 +rs796666015 19 55317530 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317530 55317530 Chr19(GRCh37):g.55317530A>G *53502 *53502 NM_001291695.1:c.*53502A>G p.? p.? 8 604953 53646 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796666015 no no 0 A 0.000000 0 transition A G A>G 0.000 -1.086 219 PASS . . . . . . . . . . . . . . . . 0.20952381 . . @ 88 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 420.0 . . . . . . . . . . -0.7251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,174,255 +rs112694450 19 55317541 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317541 55317541 Chr19(GRCh37):g.55317541T>C 497 497 NM_001080770.1:c.497T>C p.Leu166Pro p.Leu166Pro 4 604945 136 3' 95.1486 13.6334 0.990721 15.5117 95.1486 13.6334 0.990721 15.5117 0 Immunoglobulin Immunoglobulin subtype rs112694450 no no 0 T 0.000000 0 transition T C T>C 0.000 -2.135 L Leu CTT 0.129 P Pro CCT 0.283 166 7 3 Macaque -3 -3 -5 0 0.39 4.IX 8 111 32.5 98 C0 126.59 53.19 Tolerated 0.14 III.33 bad 4.193E-5 0.03257 217 PASS . . . . . . . . . . . . . . . . 0.20386267 . . @ 95 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.017 . . 466.0 . . . . . . . . . . -1.7595 -1.899 -1.760 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.083 @ . . . 0.15 0.24 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.007 . . 0.488 . . . 0.240 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.687 . . 0 0 0 0 0 0 . 0.178 . . 0.230 . . . . . . 0 0.287 . . . . . 0.002 . 0.236 . HET 0.14 . 0.011 0.007 . . . . . . . . . . 0.2444 . . 0.728 -1.46 . 0.120000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.181 -2.181000 . . 0.120000 . . 1.0E-217 0.000 0.063 . 0.062 0.226 . 0.003 . 0.008 -2.181 0.643 0.011 . . rs112694450 rs112694450 1 1538 10 1/0 0,169,255 +rs112694450 19 55317541 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317541 55317541 Chr19(GRCh37):g.55317541T>C *53513 *53513 NM_001291695.1:c.*53513T>C p.? p.? 8 604953 53657 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs112694450 no no 0 T 0.000000 0 transition T C T>C 0.000 -2.135 217 PASS . . . . . . . . . . . . . . . . 0.20386267 . . @ 95 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.010 . @ . . . . . 1 0.017 . . 466.0 . . . . . . . . . . -1.7595 -1.899 -1.760 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.083 @ . . . 0.15 0.24 182 ENSG00000189013 . KIR2DL4 . . . 0.000 0.069 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.018 0.001 . . 37 . 0.007 . . 0.488 . . . 0.240 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.687 . . 0 0 0 0 0 0 . 0.178 . . 0.230 . . . . . . 0 0.287 . . . . . 0.002 . 0.236 . HET 0.14 . 0.011 0.007 . . . . . . . . . . 0.2444 . . 0.728 -1.46 . 0.120000 . . . . . . 0.006 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -2.181 -2.181000 . . 0.120000 . . 1.0E-217 0.000 0.063 . 0.062 0.226 . 0.003 . 0.008 -2.181 0.643 0.011 . . rs112694450 rs112694450 1 1538 10 1/0 0,169,255 +rs200435373 19 55317564 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317564 55317564 Chr19(GRCh37):g.55317564A>G 520 520 NM_001080770.1:c.520A>G p.Ile174Val p.Ile174Val 4 604945 -136 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.40228 0 Immunoglobulin Immunoglobulin subtype rs200435373 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23298 3804 4028 550 2532 1968 8622 1088 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -3.426 I Ile ATC 0.481 V Val GTC 0.240 174 7 1 3 3 4 0 0 5.II 5.IX 111 84 29 C0 151.65 0.00 Tolerated 0.83 III.33 good 8.504E-1 0.3055 217 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.005 . . 440.0 . . . . . . . . . . -2.5106 -2.515 -2.511 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.101 @ . . . 0.16 0.14 182 ENSG00000189013 . KIR2DL4 . . . 0.043 0.146 . . . . . . . Uncertain_significance . 0 . 0.002 . . . . T 0.024 0.002 . . 37 . 0.030 . . 0.373 . . . 0.003 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.010 . . . . . . . 0.048 . HET 1 . . . . . . . . . . . . . . . . 0.427 -0.854 . 1.000000 . . . . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.133 . -3.514 -3.514000 . . 1.000000 . . 1.0E-217 0.000 0.063 . 0.016 0.000 . 0.038 . 0.002 -3.514 -1.958 . . . rs78397594 rs200435373 1 1538 10 1/0 0,172,255 +rs200435373 19 55317564 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317564 55317564 Chr19(GRCh37):g.55317564A>G *53536 *53536 NM_001291695.1:c.*53536A>G p.? p.? 8 604953 53680 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200435373 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23298 3804 4028 550 2532 1968 8622 1088 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -3.426 217 PASS . . . . . . . . . . . . . . . . 0.20454545 . . @ 90 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.005 . . 440.0 . . . . . . . . . . -2.5106 -2.515 -2.511 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.120 . . exonic exonic exonic . . 0.101 @ . . . 0.16 0.14 182 ENSG00000189013 . KIR2DL4 . . . 0.043 0.146 . . . . . . . Uncertain_significance . 0 . 0.002 . . . . T 0.024 0.002 . . 37 . 0.030 . . 0.373 . . . 0.003 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.067 . . 0.040 . . . . . . 0 0.010 . . . . . . . 0.048 . HET 1 . . . . . . . . . . . . . . . . 0.427 -0.854 . 1.000000 . . . . . . 0.007 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.133 . -3.514 -3.514000 . . 1.000000 . . 1.0E-217 0.000 0.063 . 0.016 0.000 . 0.038 . 0.002 -3.514 -1.958 . . . rs78397594 rs200435373 1 1538 10 1/0 0,172,255 +. 19 55317584 C T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317584 55317584 Chr19(GRCh37):g.55317584C>T 540 540 NM_001080770.1:c.540C>T p.Ala180= p.Ala180Ala 4 604945 -116 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.40228 0 Immunoglobulin Immunoglobulin subtype rs954023147 no no 0 C 0.000000 0 transition C T C>T 0.000 -1.893 A Ala GCC 0.403 A Ala GCT 0.263 180 201 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.8713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +. 19 55317584 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317584 55317584 Chr19(GRCh37):g.55317584C>T *53556 *53556 NM_001291695.1:c.*53556C>T p.? p.? 8 604953 53700 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs954023147 no no 0 C 0.000000 0 transition C T C>T 0.000 -1.893 201 PASS . . . . . . . . . . . . . . . . 0.16 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 400.0 . . . . . . . . . . -0.8713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,172,255 +. 19 55317590 C T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317590 55317590 Chr19(GRCh37):g.55317590C>T 546 546 NM_001080770.1:c.546C>T p.Phe182= p.Phe182Phe 4 604945 -110 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.40228 0 Immunoglobulin Immunoglobulin subtype transition C T C>T 0.000 -0.682 F Phe TTC 0.546 F Phe TTT 0.454 182 191 PASS . . . . . . . . . . . . . . . . 0.1373057 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 386.0 . . . . . . . . . . -0.6549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55317590 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317590 55317590 Chr19(GRCh37):g.55317590C>T *53562 *53562 NM_001291695.1:c.*53562C>T p.? p.? 8 604953 53706 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition C T C>T 0.000 -0.682 191 PASS . . . . . . . . . . . . . . . . 0.1373057 . . @ 53 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 386.0 . . . . . . . . . . -0.6549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55317599 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution synonymous exon GRCh37 55317599 55317599 Chr19(GRCh37):g.55317599T>C 555 555 NM_001080770.1:c.555T>C p.Gly185= p.Gly185Gly 4 604945 -101 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.40228 0 Immunoglobulin Immunoglobulin subtype transition T C T>C 0.000 -1.167 G Gly GGT 0.162 G Gly GGC 0.342 185 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 369.0 . . . . . . . . . . -0.6914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55317599 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317599 55317599 Chr19(GRCh37):g.55317599T>C *53571 *53571 NM_001291695.1:c.*53571T>C p.? p.? 8 604953 53715 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition T C T>C 0.000 -1.167 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 369.0 . . . . . . . . . . -0.6914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,171,255 +. 19 55317639 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution missense exon GRCh37 55317639 55317639 Chr19(GRCh37):g.55317639T>C 595 595 NM_001080770.1:c.595T>C p.Phe199Leu p.Phe199Leu 4 604945 -61 5' 90.6189 10.0684 0.991859 9.40228 90.6189 10.0684 0.991859 9.92145 0 Immunoglobulin subtype transition T C T>C 0.000 -0.279 F Phe TTC 0.546 L Leu CTC 0.197 199 7 5 Cow 1 0 0 0 0 5.II 4.IX 132 111 22 C0 104.11 0.00 Tolerated 0.33 III.33 good 6.93E-1 0.1398 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.102 . . 256.0 . . . . . . . . . . -1.2363 -1.379 -1.236 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.109 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.011 . . . . T 0.018 0.001 . . 37 . 0.009 . . 0.453 . . . 0.161 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.695 . . 0 0 0 0 0 0 . 0.295 . . 0.286 . . . . . . 0 0.210 . . . . . 0.049 . 0.434 . LowAF 0.1 . . . . . . . . . . . . . II.24 . . 0.728 -0.617 . 0.220000 . . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.296 -0.296000 . . 0.220000 . . 1.0E-178 0.000 0.063 . 0.016 0.001 . 0.010 . 0.017 -0.296 -0.090 . . . . . 1 1538 10 1/0 0,187,255 +. 19 55317639 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55317639 55317639 Chr19(GRCh37):g.55317639T>C *53611 *53611 NM_001291695.1:c.*53611T>C p.? p.? 8 604953 53755 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition T C T>C 0.000 -0.279 178 PASS . . . . . . . . . . . . . . . . 0.109375 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.057 . @ . . . . . 1 0.102 . . 256.0 . . . . . . . . . . -1.2363 -1.379 -1.236 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.109 @ . . . . . . ENSG00000189013 . KIR2DL4 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.011 . . . . T 0.018 0.001 . . 37 . 0.009 . . 0.453 . . . 0.161 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.695 . . 0 0 0 0 0 0 . 0.295 . . 0.286 . . . . . . 0 0.210 . . . . . 0.049 . 0.434 . LowAF 0.1 . . . . . . . . . . . . . II.24 . . 0.728 -0.617 . 0.220000 . . . . . . 0.010 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.296 -0.296000 . . 0.220000 . . 1.0E-178 0.000 0.063 . 0.016 0.001 . 0.010 . 0.017 -0.296 -0.090 . . . . . 1 1538 10 1/0 0,187,255 +rs796499070 19 55320387 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320387 55320387 Chr19(GRCh37):g.55320387A>T 706+49 706+49 NM_001080770.1:c.706+49A>T p.? p.? 5 5 604945 49 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.53308 0 rs796499070 no no 0 A 0.000000 0 transversion A T A>T 0.000 0.448 235 PASS . . . . . . . . . . . . . . . . 0.25700936 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 214.0 . . . . . . . . . . -0.3338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +rs796499070 19 55320387 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320387 55320387 Chr19(GRCh37):g.55320387A>T *56359 *56359 NM_001291695.1:c.*56359A>T p.? p.? 8 604953 56503 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796499070 no no 0 A 0.000000 0 transversion A T A>T 0.000 0.448 235 PASS . . . . . . . . . . . . . . . . 0.25700936 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 214.0 . . . . . . . . . . -0.3338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +rs796605254 19 55320389 A G - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320389 55320389 Chr19(GRCh37):g.55320389A>G 706+51 706+51 NM_001080770.1:c.706+51A>G p.? p.? 5 5 604945 51 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.66045 0 Cryptic Donor Strongly Activated 55320384 IV.35 0.156243 69.3842 8.23527 0.722425 81.5358 rs796605254 no no 0 A 0.000000 0 transition A G A>G 0.004 0.448 232 PASS . . . . . . . . . . . . . . . . 0.24892704 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . . . . . . . . -0.2589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +rs796605254 19 55320389 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320389 55320389 Chr19(GRCh37):g.55320389A>G *56361 *56361 NM_001291695.1:c.*56361A>G p.? p.? 8 604953 56505 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55320384 IV.35 0.156243 69.3842 8.23527 0.722425 81.5358 rs796605254 no no 0 A 0.000000 0 transition A G A>G 0.004 0.448 232 PASS . . . . . . . . . . . . . . . . 0.24892704 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . . . . . . . . -0.2589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-232 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,203,255 +rs796235267 19 55320390 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320390 55320390 Chr19(GRCh37):g.55320390A>T 706+52 706+52 NM_001080770.1:c.706+52A>T p.? p.? 5 5 604945 52 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.56573 0 Cryptic Donor Strongly Activated 55320384 IV.35 0.156243 69.3842 6.03712 0.703691 74.7131 rs796235267 no no 0 A 0.000000 0 transversion A T A>T 0.000 -1.974 233 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 220.0 . . . . . . . . . . -0.8427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,206,255 +rs796235267 19 55320390 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320390 55320390 Chr19(GRCh37):g.55320390A>T *56362 *56362 NM_001291695.1:c.*56362A>T p.? p.? 8 604953 56506 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55320384 IV.35 0.156243 69.3842 6.03712 0.703691 74.7131 rs796235267 no no 0 A 0.000000 0 transversion A T A>T 0.000 -1.974 233 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 220.0 . . . . . . . . . . -0.8427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,206,255 +rs796340056 19 55320391 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320391 55320391 Chr19(GRCh37):g.55320391G>A 706+53 706+53 NM_001080770.1:c.706+53G>A p.? p.? 5 5 604945 53 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.18141 0 rs796340056 no no 0 G 0.000000 0 transition G A G>A 0.000 0.609 235 PASS . . . . . . . . . . . . . . . . 0.25791857 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 221.0 . . . . . . . . . . -0.2428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs796340056 19 55320391 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320391 55320391 Chr19(GRCh37):g.55320391G>A *56363 *56363 NM_001291695.1:c.*56363G>A p.? p.? 8 604953 56507 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796340056 no no 0 G 0.000000 0 transition G A G>A 0.000 0.609 235 PASS . . . . . . . . . . . . . . . . 0.25791857 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 221.0 . . . . . . . . . . -0.2428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs796561818 19 55320392 C T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320392 55320392 Chr19(GRCh37):g.55320392C>T 706+54 706+54 NM_001080770.1:c.706+54C>T p.? p.? 5 5 604945 54 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.35665 0 rs796561818 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 224.0 . . . . . . . . . . -0.3693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +rs796561818 19 55320392 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320392 55320392 Chr19(GRCh37):g.55320392C>T *56364 *56364 NM_001291695.1:c.*56364C>T p.? p.? 8 604953 56508 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796561818 yes no Frequency 1 C 0.000000 0 transition C T C>T 0.000 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 224.0 . . . . . . . . . . -0.3693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,205,255 +rs796187875 19 55320406 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320406 55320406 Chr19(GRCh37):g.55320406G>A 706+68 706+68 NM_001080770.1:c.706+68G>A p.? p.? 5 5 604945 68 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.79681 0 rs796187875 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.360 249 PASS . . . . . . . . . . . . . . . . 0.30088496 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.3956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +rs796187875 19 55320406 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320406 55320406 Chr19(GRCh37):g.55320406G>A *56378 *56378 NM_001291695.1:c.*56378G>A p.? p.? 8 604953 56522 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796187875 no no 0 G 0.000000 0 transition G A G>A 0.000 -0.360 249 PASS . . . . . . . . . . . . . . . . 0.30088496 . . @ 68 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . -0.3956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,210,255 +. 19 55320421 G C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320421 55320421 Chr19(GRCh37):g.55320421G>C 706+83 706+83 NM_001080770.1:c.706+83G>C p.? p.? 5 5 604945 83 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs972228599 no no 0 G 0.000000 0 transversion G C G>C 0.004 -1.247 251 PASS . . . . . . . . . . . . . . . . 0.30941704 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 223.0 . . . . . . . . . . -0.4686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.3 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs78024382 rs78024382 1 1538 10 1/0 0,211,255 +. 19 55320421 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320421 55320421 Chr19(GRCh37):g.55320421G>C *56393 *56393 NM_001291695.1:c.*56393G>C p.? p.? 8 604953 56537 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs972228599 no no 0 G 0.000000 0 transversion G C G>C 0.004 -1.247 251 PASS . . . . . . . . . . . . . . . . 0.30941704 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 223.0 . . . . . . . . . . -0.4686 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.3 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs78024382 rs78024382 1 1538 10 1/0 0,211,255 +rs796407958 19 55320450 C T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320450 55320450 Chr19(GRCh37):g.55320450C>T 706+112 706+112 NM_001080770.1:c.706+112C>T p.? p.? 5 5 604945 112 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796407958 no no 0 C 0.000000 0 transition C T C>T 0.000 -0.360 231 PASS . . . . . . . . . . . . . . . . 0.24431819 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . -0.4995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs796407958 19 55320450 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320450 55320450 Chr19(GRCh37):g.55320450C>T *56422 *56422 NM_001291695.1:c.*56422C>T p.? p.? 8 604953 56566 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796407958 no no 0 C 0.000000 0 transition C T C>T 0.000 -0.360 231 PASS . . . . . . . . . . . . . . . . 0.24431819 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 176.0 . . . . . . . . . . -0.4995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs796993008 19 55320452 T A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320452 55320452 Chr19(GRCh37):g.55320452T>A 706+114 706+114 NM_001080770.1:c.706+114T>A p.? p.? 5 5 604945 114 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796993008 no no 0 T 0.000000 0 transversion T A T>A 0.000 -0.198 234 PASS . . . . . . . . . . . . . . . . 0.2559524 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 168.0 . . . . . . . . . . -0.5121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs796993008 19 55320452 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320452 55320452 Chr19(GRCh37):g.55320452T>A *56424 *56424 NM_001291695.1:c.*56424T>A p.? p.? 8 604953 56568 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796993008 no no 0 T 0.000000 0 transversion T A T>A 0.000 -0.198 234 PASS . . . . . . . . . . . . . . . . 0.2559524 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 168.0 . . . . . . . . . . -0.5121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs796685694 19 55320453 T C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320453 55320453 Chr19(GRCh37):g.55320453T>C 706+115 706+115 NM_001080770.1:c.706+115T>C p.? p.? 5 5 604945 115 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796685694 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.252809 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . . . . . . . . . -0.3701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs796685694 19 55320453 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320453 55320453 Chr19(GRCh37):g.55320453T>C *56425 *56425 NM_001291695.1:c.*56425T>C p.? p.? 8 604953 56569 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796685694 no no 0 T 0.000000 0 transition T C T>C 0.000 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.252809 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . . . . . . . . . -0.3701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs796136152 19 55320454 G A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320454 55320454 Chr19(GRCh37):g.55320454G>A 706+116 706+116 NM_001080770.1:c.706+116G>A p.? p.? 5 5 604945 116 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796136152 no no 0 G 0.000000 0 transition G A G>A 0.000 -1.167 229 PASS . . . . . . . . . . . . . . . . 0.24022347 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . -0.5602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs796136152 19 55320454 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320454 55320454 Chr19(GRCh37):g.55320454G>A *56426 *56426 NM_001291695.1:c.*56426G>A p.? p.? 8 604953 56570 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796136152 no no 0 G 0.000000 0 transition G A G>A 0.000 -1.167 229 PASS . . . . . . . . . . . . . . . . 0.24022347 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 179.0 . . . . . . . . . . -0.5602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-229 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs796362882 19 55320462 A C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320462 55320462 Chr19(GRCh37):g.55320462A>C 706+124 706+124 NM_001080770.1:c.706+124A>C p.? p.? 5 5 604945 124 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 Cryptic Acceptor Strongly Activated 55320469 6.17216 0.20298 77.77 8.34807 0.478644 81.1848 rs796362882 no no 0 A 0.000000 0 transversion A C A>C 0.012 -0.521 243 PASS . . . . . . . . . . . . . . . . 0.28402367 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . -0.3868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs796362882 19 55320462 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320462 55320462 Chr19(GRCh37):g.55320462A>C *56434 *56434 NM_001291695.1:c.*56434A>C p.? p.? 8 604953 56578 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55320469 6.17216 0.20298 77.77 8.34807 0.478644 81.1848 rs796362882 no no 0 A 0.000000 0 transversion A C A>C 0.012 -0.521 243 PASS . . . . . . . . . . . . . . . . 0.28402367 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 169.0 . . . . . . . . . . -0.3868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-243 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs796944382 19 55320474 C A - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55320474 55320474 Chr19(GRCh37):g.55320474C>A 706+136 706+136 NM_001080770.1:c.706+136C>A p.? p.? 5 5 604945 136 5' 91.4889 X.58 0.996385 8.43704 91.4889 X.58 0.996385 8.43704 0 rs796944382 no no 0 C 0.000000 0 transversion C A C>A 0.000 -0.360 235 PASS . . . . . . . . . . . . . . . . 0.25675675 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . . . . . . . . . -0.3985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +rs796944382 19 55320474 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55320474 55320474 Chr19(GRCh37):g.55320474C>A *56446 *56446 NM_001291695.1:c.*56446C>A p.? p.? 8 604953 56590 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs796944382 no no 0 C 0.000000 0 transversion C A C>A 0.000 -0.360 235 PASS . . . . . . . . . . . . . . . . 0.25675675 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 148.0 . . . . . . . . . . -0.3985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 19 55324674 C CA - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 duplication intron GRCh37 55324683 55324684 Chr19(GRCh37):g.55324683dup 707-462 707-462 NM_001080770.1:c.707-462dup p.? p.? 6 5 604945 -461 3' 84.4733 XI.63 0.941104 13.1132 84.4733 XI.63 0.941104 13.1132 0 New Donor Site 55324684 7.30895 0.991868 81.7787 rs11371265 no no 0 0.000000 0 COSM5445945|COSM5713363 Thyroid|Central nervous system 0.004016|0.001663 747|2405 A 255 Pass . . . . . . . . . . . . . KIR2DL4:NM_001080772:exon6:c.802dupA:p.S267fs . . 0.5588235 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs11371265 rs11371265 rs11371265 1 1538 10 1.I 0,12,25 +. 19 55324674 C CA - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 duplication downstream GRCh37 55324683 55324684 Chr19(GRCh37):g.55324683dup *60655 *60655 NM_001291695.1:c.*60655dup p.? p.? 8 604953 60799 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 New Donor Site 55324684 7.30895 0.991868 81.7787 rs11371265 no no 0 0.000000 0 COSM5445945|COSM5713363 Thyroid|Central nervous system 0.004016|0.001663 747|2405 A 255 Pass . . . . . . . . . . . . . KIR2DL4:NM_001080772:exon6:c.802dupA:p.S267fs . . 0.5588235 . . . 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000189013 . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs11371265 rs11371265 rs11371265 1 1538 10 1.I 0,12,25 +. 19 55325240 G C - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55325240 55325240 Chr19(GRCh37):g.55325240G>C 759+43 759+43 NM_001080770.1:c.759+43G>C p.? p.? 6 6 604945 43 5' 86.8647 IX.15 0.964809 6.92518 86.8647 IX.15 0.964809 7.256 0 Cryptic Acceptor Strongly Activated 55325247 4.68948 0.021206 69.5548 5.81428 0.094573 73.2979 rs34348532 no no 0 0.000000 0 0.000006 0.000095 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 1 1 0 0 0 0 0 0 0 175402 10530 17432 6482 6878 18468 93090 18134 4388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.6995516 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 223.0 . . . . . . . . . . -0.5277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.38 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 5.672e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs653140 rs653140 rs147788756 rs147788756 1 1538 10 1/0 0,229,227 +. 19 55325240 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55325240 55325240 Chr19(GRCh37):g.55325240G>C *61212 *61212 NM_001291695.1:c.*61212G>C p.? p.? 8 604953 61356 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55325247 4.68948 0.021206 69.5548 5.81428 0.094573 73.2979 rs34348532 no no 0 0.000000 0 0.000006 0.000095 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 1 1 0 0 0 0 0 0 0 175402 10530 17432 6482 6878 18468 93090 18134 4388 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.6995516 . . @ 156 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 223.0 . . . . . . . . . . -0.5277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.45 0.38 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 5.672e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs653140 rs653140 rs147788756 rs147788756 1 1538 10 1/0 0,229,227 +rs653142 19 55325241 A T - KIR2DL4 6332 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NM_001080770.1 1 1475 1029 NP_001074239.1 substitution intron GRCh37 55325241 55325241 Chr19(GRCh37):g.55325241A>T 759+44 759+44 NM_001080770.1:c.759+44A>T p.? p.? 6 6 604945 44 5' 86.8647 IX.15 0.964809 6.92518 86.8647 IX.15 0.964809 7.07786 0 Cryptic Acceptor Strongly Activated 55325247 4.68948 0.021206 69.5548 5.0304 0.306517 75.5478 rs653142 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 175696 10612 17442 6482 6890 18468 93238 18166 4398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.6891892 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . -0.6726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.36 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs653142 rs653142 rs143418680 rs143418680 1 1538 10 1/0 0,231,230 +rs653142 19 55325241 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55325241 55325241 Chr19(GRCh37):g.55325241A>T *61213 *61213 NM_001291695.1:c.*61213A>T p.? p.? 8 604953 61357 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55325247 4.68948 0.021206 69.5548 5.0304 0.306517 75.5478 rs653142 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 175696 10612 17442 6482 6890 18468 93238 18166 4398 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A T A>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.6891892 . . @ 153 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 222.0 . . . . . . . . . . -0.6726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.36 182 . . KIR2DL4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs653142 rs653142 rs143418680 rs143418680 1 1538 10 1/0 0,231,230 +rs598375 19 55328084 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55328084 55328084 Chr19(GRCh37):g.55328084A>G *64056 *64056 NM_001291695.1:c.*64056A>G p.? p.? 8 604953 64200 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs598375 yes no Frequency/1000G 2 G 0.000000 0 0.351637 0.433400 0.234200 0.556500 0.174000 0.321300 0.001771 0.003253 0.000000 0.006667 0.002242 0.000000 0.001325 0.001597 0.002183 0.006667 23 7 0 1 1 0 10 3 1 12988 2152 358 150 446 0 7546 1878 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 0 1 1 0 10 3 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . 0.43 0.35 0.32 0.56 0.17 0.23 . . . . . 0.61463416 . . @ 126 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 205.0 . . . . . . . . . . -0.6405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3516 . . . 0.27 0.19 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . 0.467 0.478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0018 0 0.0067 0.0022 0.0016 0.0013 0.0022 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 rs598375 rs598375 rs598375 rs142454309 1 1538 10 1/0 0,241,253 +rs598375 19 55328084 A G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55328084 55328084 Chr19(GRCh37):g.55328084A>G 34+95 34+95 NM_001322168.1:c.34+95A>G p.? p.? 1 1 604946 95 5' 82.9985 9.27414 0.977682 9.74286 82.9985 9.27414 0.977682 9.74286 0 rs598375 yes no Frequency/1000G 2 G 0.000000 0 0.351637 0.433400 0.234200 0.556500 0.174000 0.321300 0.001771 0.003253 0.000000 0.006667 0.002242 0.000000 0.001325 0.001597 0.002183 0.006667 23 7 0 1 1 0 10 3 1 12988 2152 358 150 446 0 7546 1878 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 7 0 1 1 0 10 3 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . 0.43 0.35 0.32 0.56 0.17 0.23 . . . . . 0.61463416 . . @ 126 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 205.0 . . . . . . . . . . -0.6405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.3516 . . . 0.27 0.19 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . 0.467 0.478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0033 0.0018 0 0.0067 0.0022 0.0016 0.0013 0.0022 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.47 rs598375 rs598375 rs598375 rs142454309 1 1538 10 1/0 0,241,253 +rs612235 19 55328919 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55328919 55328919 Chr19(GRCh37):g.55328919G>A *64891 *64891 NM_001291695.1:c.*64891G>A p.? p.? 8 604953 65035 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs612235 no no 0 A 0.000000 0 transition G A G>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.6554622 . . @ 234 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 357.0 . . . . . . . . . . -0.3190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.1 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . 0.141 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs612235 rs612235 rs612235 rs138071621 1 1538 10 1/0 0,209,209 +rs612235 19 55328919 G A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55328919 55328919 Chr19(GRCh37):g.55328919G>A 35-70 35-70 NM_001322168.1:c.35-70G>A p.? p.? 2 1 604946 -70 3' 90.7686 X.12 0.995541 6.09746 90.7686 X.12 0.995541 5.95252 0 rs612235 no no 0 A 0.000000 0 transition G A G>A 0.000 0.286 255 PASS . . . . . . . . . . . . . . . . 0.6554622 . . @ 234 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 357.0 . . . . . . . . . . -0.3190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.1 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . 0.141 0.239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.14 rs612235 rs612235 rs612235 rs138071621 1 1538 10 1/0 0,209,209 +. 19 55329934 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55329934 55329934 Chr19(GRCh37):g.55329934A>G *65906 *65906 NM_001291695.1:c.*65906A>G p.? p.? 8 604953 66050 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000004 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 1 0 1 0 0 0 0 0 0 228178 15084 31148 8942 16450 26834 105110 19488 5122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 76 Exomes transition A G A>G 0.000 -2.297 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon3:c.A235G:p.S79G . . 0.6335878 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.079 . . 131.0 . . . . . . . . . . -1.3702 -1.605 -1.370 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.128 . . exonic exonic exonic . . 0.060 @ . . . 0.05 0.15 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.055 . 433 0.006664 64976 433 0.00721835 59986 Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.140 . . 0.029 . . . 0.694 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.537 . . 0 0 0 0 0 0 . 0.458 . . 0.399 . . . . . . 3 0.408 . . . . . 0.077 . 0.121 . HET 0.05 . 0.141 0.225 . . . . . . . . . . III.85 . . I.25 -2.51 . 0.010000 . . . . . . 0.010 . . . 0 4.383e-06 3.21e-05 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -2.303 -2.303000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.068 . 0.058 -2.303 -2.019 0.14 rs62124092 rs62124092 rs62124092 rs62124092 1 1538 10 1/0 0,255,255 +. 19 55329934 A G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55329934 55329934 Chr19(GRCh37):g.55329934A>G 235 235 NM_001322168.1:c.235A>G p.Ser79Gly p.Ser79Gly 3 604946 -121 5' 84.7886 7.40564 0.793383 6.70497 84.7886 7.40564 0.793383 6.70497 0 0.000004 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 1 0 1 0 0 0 0 0 0 228178 15084 31148 8942 16450 26834 105110 19488 5122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 76 Exomes transition A G A>G 0.000 -2.297 S Ser AGC 0.243 G Gly GGC 0.342 79 11 6 Pig 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 135.81 29.38 Tolerated 0.2 II.84 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon3:c.A235G:p.S79G . . 0.6335878 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.007 . @ . . . . . 1 0.079 . . 131.0 . . . . . . . . . . -1.3702 -1.605 -1.370 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.128 . . exonic exonic exonic . . 0.060 @ . . . 0.05 0.15 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.055 . 433 0.006664 64976 433 0.00721835 59986 Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.140 . . 0.029 . . . 0.694 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.537 . . 0 0 0 0 0 0 . 0.458 . . 0.399 . . . . . . 3 0.408 . . . . . 0.077 . 0.121 . HET 0.05 . 0.141 0.225 . . . . . . . . . . III.85 . . I.25 -2.51 . 0.010000 . . . . . . 0.010 . . . 0 4.383e-06 3.21e-05 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -2.303 -2.303000 . . 0.010000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.068 . 0.058 -2.303 -2.019 0.14 rs62124092 rs62124092 rs62124092 rs62124092 1 1538 10 1/0 0,255,255 +rs652641 19 55331287 G T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55331287 55331287 Chr19(GRCh37):g.55331287G>T *67259 *67259 NM_001291695.1:c.*67259G>T p.? p.? 8 604953 67403 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55331285 1.95308 0.050219 74.304 2.91051 0.072434 74.304 rs652641 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 231150 15132 31376 9000 16524 27012 106232 20710 5164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes transversion G T G>T 0.016 1.093 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.G475T:p.G159W . . 0.54103345 . . @ 178 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.283 . @ . . . . . 1 0.393 . . 329.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Tgg|G159W|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -0.3609 -0.646 -0.361 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.013 . . exonic exonic exonic . . 0.215 @ . . . 0.17 0.23 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.012 . . . . T 0.024 0.002 . . 37 . 0.132 . . 0.170 . . . 0.930 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.789 . . 0 0 0 0 0 0 . 0.424 . . 0.590 . . . . . . 0 0.501 . . . . . 0.204 . 0.491 . HET 0.04 . 0.141 0.188 . . . . . . . . . . VI.94 . . I.44 I.44 . 0.030000 . . . . . . 0.062 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . 1.138 1.138000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.043 0.018 . 0.189 . 0.272 1.138 0.589 0.14 rs652641 rs652641 rs652641 rs139070113 1 1538 10 1/0 0,208,217 +rs652641 19 55331287 G T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55331287 55331287 Chr19(GRCh37):g.55331287G>T 475 475 NM_001322168.1:c.475G>T p.Gly159Trp p.Gly159Trp 4 604946 120 3' 87.7416 X.34 0.946917 XI.46 87.7416 X.34 0.946917 XI.46 0 Cryptic Acceptor Strongly Activated 55331285 1.95308 0.050219 74.304 2.91051 0.072434 74.304 rs652641 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 231150 15132 31376 9000 16524 27012 106232 20710 5164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 66 Exomes transversion G T G>T 0.016 1.093 G Gly GGG 0.250 W Trp TGG 1.000 159 11 4 Horse -2 -2 -6 0.74 0.13 9 5.IV 3 170 184 C0 353.86 0.00 Deleterious 0.02 III.18 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.G475T:p.G159W . . 0.54103345 . . @ 178 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.283 . @ . . . . . 1 0.393 . . 329.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Tgg|G159W|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -0.3609 -0.646 -0.361 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.013 . . exonic exonic exonic . . 0.215 @ . . . 0.17 0.23 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.012 . . . . T 0.024 0.002 . . 37 . 0.132 . . 0.170 . . . 0.930 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.789 . . 0 0 0 0 0 0 . 0.424 . . 0.590 . . . . . . 0 0.501 . . . . . 0.204 . 0.491 . HET 0.04 . 0.141 0.188 . . . . . . . . . . VI.94 . . I.44 I.44 . 0.030000 . . . . . . 0.062 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . 1.138 1.138000 . . 0.030000 . . 1.0E-255 0.000 0.063 . 0.043 0.018 . 0.189 . 0.272 1.138 0.589 0.14 rs652641 rs652641 rs652641 rs139070113 1 1538 10 1/0 0,208,217 +rs652741 19 55331362 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55331362 55331362 Chr19(GRCh37):g.55331362C>T *67334 *67334 NM_001291695.1:c.*67334C>T p.? p.? 8 604953 67478 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs652741 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 231302 15142 31388 9000 16542 27004 106328 20740 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 69 Exomes transition C T C>T 0.000 -0.198 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.C550T:p.P184S . . 0.57881135 . . @ 224 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.374 . . 387.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P184S|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -0.9933 -1.223 -0.993 c . . . . . 1.638e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.090 @ . . . 0.09 0.16 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.127 . . . . T 0.019 0.001 . . 37 . 0.050 . . 0.322 . . . 0.383 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.844 . . 0 0 0 0 0 0 . 0.539 . . 0.504 . . . . . . 0 0.193 . . . . . 0.032 . 0.068 . HET 0.27 . 0.141 0.188 . . . . . . . . . . 2.0082 . . I.44 -1.19 . 0.540000 . . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.214 -0.214000 . . 0.540000 . . 1.0E-255 0.000 0.063 . 0.016 0.032 . 0.009 . 0.040 -0.214 0.567 0.14 rs652741 rs652741 rs652741 rs201739958 1 1538 10 1/0 0,205,213 +rs652741 19 55331362 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55331362 55331362 Chr19(GRCh37):g.55331362C>T 550 550 NM_001322168.1:c.550C>T p.Pro184Ser p.Pro184Ser 4 604946 -106 5' 90.3087 9.21919 0.939398 7.85701 90.3087 9.21919 0.939398 7.85701 0 rs652741 yes no Frequency 1 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 231302 15142 31388 9000 16542 27004 106328 20740 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 69 Exomes transition C T C>T 0.000 -0.198 P Pro CCC 0.328 S Ser TCC 0.220 184 11 8 Armadillo -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.29 II.90 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.C550T:p.P184S . . 0.57881135 . . @ 224 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.081 . @ . . . . . 1 0.374 . . 387.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P184S|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -0.9933 -1.223 -0.993 c . . . . . 1.638e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.026 . . exonic exonic exonic . . 0.090 @ . . . 0.09 0.16 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.127 . . . . T 0.019 0.001 . . 37 . 0.050 . . 0.322 . . . 0.383 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.844 . . 0 0 0 0 0 0 . 0.539 . . 0.504 . . . . . . 0 0.193 . . . . . 0.032 . 0.068 . HET 0.27 . 0.141 0.188 . . . . . . . . . . 2.0082 . . I.44 -1.19 . 0.540000 . . . . . . 0.012 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.214 -0.214000 . . 0.540000 . . 1.0E-255 0.000 0.063 . 0.016 0.032 . 0.009 . 0.040 -0.214 0.567 0.14 rs652741 rs652741 rs652741 rs201739958 1 1538 10 1/0 0,205,213 +rs660405 19 55331372 T G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55331372 55331372 Chr19(GRCh37):g.55331372T>G *67344 *67344 NM_001291695.1:c.*67344T>G p.? p.? 8 604953 67488 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs660405 no no 0 G 0.000000 0 transversion T G T>G 0.000 -0.682 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.T560G:p.L187R . . 0.59102905 . . @ 224 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.027 . . 379.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cGt|L187R|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -1.7706 -1.834 -1.771 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.031 . . exonic exonic exonic . . 0.053 @ . . . 0.19 0.2 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.015 . . . . T 0.016 0.001 . . 37 . 0.019 . . 0.413 . . . 0.039 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.031 . . 0 0 0 0 0 0 . 0.165 . . 0.205 . . . . . . 0 0.136 . . . . . 0.049 . 0.243 . HET 0.21 . 0.141 0.188 . . . . . . . . . . II.11 . . I.44 -2.88 . 0.390000 . . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.722 -0.722000 . . 0.390000 . . 1.0E-255 0.000 0.063 . 0.016 0.028 . 0.085 . 0.038 -0.722 -1.111 0.14 rs660405 rs660405 rs660405 rs199663346 1 1538 10 1/0 0,208,216 +rs660405 19 55331372 T G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55331372 55331372 Chr19(GRCh37):g.55331372T>G 560 560 NM_001322168.1:c.560T>G p.Leu187Arg p.Leu187Arg 4 604946 -96 5' 90.3087 9.21919 0.939398 7.85701 90.3087 9.21919 0.939398 7.85701 0 rs660405 no no 0 G 0.000000 0 transversion T G T>G 0.000 -0.682 L Leu CTT 0.129 R Arg CGT 0.082 187 11 1 -2 -2 -4 0 0.65 4.IX 10.V 111 124 102 C0 353.86 0.00 Tolerated 0.52 II.90 255 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon4:c.T560G:p.L187R . . 0.59102905 . . @ 224 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.020 . @ . . . . . 1 0.027 . . 379.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cGt|L187R|KIR3DL1|mRNA|CODING|NM_013289|NM_013289.ex.4) . . . . . . . -1.7706 -1.834 -1.771 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.031 . . exonic exonic exonic . . 0.053 @ . . . 0.19 0.2 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . 0.015 . . . . T 0.016 0.001 . . 37 . 0.019 . . 0.413 . . . 0.039 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.031 . . 0 0 0 0 0 0 . 0.165 . . 0.205 . . . . . . 0 0.136 . . . . . 0.049 . 0.243 . HET 0.21 . 0.141 0.188 . . . . . . . . . . II.11 . . I.44 -2.88 . 0.390000 . . . . . . 0.013 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.722 -0.722000 . . 0.390000 . . 1.0E-255 0.000 0.063 . 0.016 0.028 . 0.085 . 0.038 -0.722 -1.111 0.14 rs660405 rs660405 rs660405 rs199663346 1 1538 10 1/0 0,208,216 +rs62124130 19 55336600 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55336600 55336600 Chr19(GRCh37):g.55336600T>C *72572 *72572 NM_001291695.1:c.*72572T>C p.? p.? 8 604953 72716 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62124130 no no 0 C 0.000000 0 transition T C T>C 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . INTRON(MODIFIER||||KIR3DL1|mRNA|CODING|NM_013289|) . . . . . . . -0.5404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.13 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2295804 rs2295804 rs2295804 rs144355656 1 1538 10 1/0 0,248,255 +rs62124130 19 55336600 T C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55336600 55336600 Chr19(GRCh37):g.55336600T>C 1000+67 1000+67 NM_001322168.1:c.1000+67T>C p.? p.? 6 6 604946 67 5' 87.1266 10.0978 0.986775 8.40848 87.1266 10.0978 0.986775 VIII.53 0 rs62124130 no no 0 C 0.000000 0 transition T C T>C 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 93 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 155.0 . . INTRON(MODIFIER||||KIR3DL1|mRNA|CODING|NM_013289|) . . . . . . . -0.5404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.13 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2295804 rs2295804 rs2295804 rs144355656 1 1538 10 1/0 0,248,255 +rs202227755 19 55340711 G T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340711 55340711 Chr19(GRCh37):g.55340711G>T *76683 *76683 NM_001291695.1:c.*76683G>T p.? p.? 8 604953 76827 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55340716 0.742499 0.001062 71.7578 2.594 0.017682 78.0748 rs202227755 no no 0 T 0.000000 0 transversion G T G>T 0.004 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.7053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.32 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs202227755 rs202227755 1 1538 10 1/0 0,255,255 +rs202227755 19 55340711 G T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340711 55340711 Chr19(GRCh37):g.55340711G>T 1001-105 1001-105 NM_001322168.1:c.1001-105G>T p.? p.? 7 6 604946 -105 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 12.0542 0 Cryptic Acceptor Strongly Activated 55340716 0.742499 0.001062 71.7578 2.594 0.017682 78.0748 rs202227755 no no 0 T 0.000000 0 transversion G T G>T 0.004 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.3448276 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.7053 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.32 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs202227755 rs202227755 1 1538 10 1/0 0,255,255 +rs200439991 19 55340719 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340719 55340719 Chr19(GRCh37):g.55340719T>C *76691 *76691 NM_001291695.1:c.*76691T>C p.? p.? 8 604953 76835 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200439991 no no 0 C 0.000000 0 transition T C T>C 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.33898306 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.6652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.29 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200439991 rs200439991 1 1538 10 1/0 0,255,255 +rs200439991 19 55340719 T C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340719 55340719 Chr19(GRCh37):g.55340719T>C 1001-97 1001-97 NM_001322168.1:c.1001-97T>C p.? p.? 7 6 604946 -97 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 12.0542 0 rs200439991 no no 0 C 0.000000 0 transition T C T>C 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.33898306 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 59.0 . . . . . . . . . . -0.6652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.27 0.29 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200439991 rs200439991 1 1538 10 1/0 0,255,255 +rs201295974 19 55340726 A T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340726 55340726 Chr19(GRCh37):g.55340726A>T *76698 *76698 NM_001291695.1:c.*76698A>T p.? p.? 8 604953 76842 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs201295974 no no 0 T 0.000000 0 transversion A T A>T 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.3275862 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.7353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.27 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201295974 rs201295974 1 1538 10 1/0 0,255,255 +rs201295974 19 55340726 A T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340726 55340726 Chr19(GRCh37):g.55340726A>T 1001-90 1001-90 NM_001322168.1:c.1001-90A>T p.? p.? 7 6 604946 -90 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 12.0542 0 55340726 -63.8262 rs201295974 no no 0 T 0.000000 0 transversion A T A>T 0.000 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.3275862 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.7353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.27 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201295974 rs201295974 1 1538 10 1/0 0,255,255 +rs181552103 19 55340739 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340739 55340739 Chr19(GRCh37):g.55340739C>G *76711 *76711 NM_001291695.1:c.*76711C>G p.? p.? 8 604953 76855 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs181552103 no no 0 G 0.000000 0 transversion C G C>G 0.012 0.448 245 PASS . . . . . . . . . . . . . . . . 0.29310346 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.3138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.22 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . rs181552103 rs181552103 1 1538 10 1/0 0,255,255 +rs181552103 19 55340739 C G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340739 55340739 Chr19(GRCh37):g.55340739C>G 1001-77 1001-77 NM_001322168.1:c.1001-77C>G p.? p.? 7 6 604946 -77 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 XII.63 0 rs181552103 no no 0 G 0.000000 0 transversion C G C>G 0.012 0.448 245 PASS . . . . . . . . . . . . . . . . 0.29310346 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . -0.3138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.18 0.22 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-245 . . . . . . . . . . . . . . rs181552103 rs181552103 1 1538 10 1/0 0,255,255 +rs368157438 19 55340766 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340766 55340766 Chr19(GRCh37):g.55340766T>A *76738 *76738 NM_001291695.1:c.*76738T>A p.? p.? 8 604953 76882 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs368157438 yes no Frequency 1 A 0.000000 0 0.000027 0.000269 0.000033 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000269 6 4 1 0 0 0 1 0 0 223500 14880 30710 8886 16392 26700 104776 16090 5066 0.166667 0.250000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 4 2 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transversion T A T>A 0.000 -2.700 237 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . -0.9759 . . . . . . . . 6.588e-05 . . . 0.0003 4.748e-05 9.235e-05 0 0 0 0 0 0.0003 4.035e-05 9.517e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 2.685e-05 3.256e-05 0 0 0 9.544e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs368157438 rs368157438 1 1538 10 1/0 0,255,255 +rs368157438 19 55340766 T A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340766 55340766 Chr19(GRCh37):g.55340766T>A 1001-50 1001-50 NM_001322168.1:c.1001-50T>A p.? p.? 7 6 604946 -50 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 XI.56 0 55340765 -5.96791 rs368157438 yes no Frequency 1 A 0.000000 0 0.000027 0.000269 0.000033 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000269 6 4 1 0 0 0 1 0 0 223500 14880 30710 8886 16392 26700 104776 16090 5066 0.166667 0.250000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 4 2 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transversion T A T>A 0.000 -2.700 237 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . . . . . . . . . -0.9759 . . . . . . . . 6.588e-05 . . . 0.0003 4.748e-05 9.235e-05 0 0 0 0 0 0.0003 4.035e-05 9.517e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 2.685e-05 3.256e-05 0 0 0 9.544e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs368157438 rs368157438 1 1538 10 1/0 0,255,255 +rs201565562 19 55340771 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340771 55340771 Chr19(GRCh37):g.55340771A>G *76743 *76743 NM_001291695.1:c.*76743A>G p.? p.? 8 604953 76887 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs201565562 yes no Frequency/1000G 2 G 0.000000 0 0.005990 0.002300 0.015300 0.004000 0.006000 0.002900 0.000031 0.000336 0.000032 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000336 7 5 1 0 0 0 1 0 0 224366 14888 30820 8912 16416 26764 105060 16440 5066 0.142857 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 5 3 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transition A G A>G 0.000 -3.830 220 PASS . 0.01 0.01 0.0035 0.01 0.0023 0.006 0.0029 0.004 0.006 0.015 . . . . . 0.21428572 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -1.1633 . . . . . . . . 7.411e-05 . . . 0.0004 5.934e-05 9.237e-05 0 0 0 0 0 0.0005 5.044e-05 9.518e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.2 0.26 182 ENSG00000167633 . KIR3DL1 . . . . . . 11 0.000169293 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 3.12e-05 3.245e-05 0 0 0 9.518e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.01 . . rs201565562 rs201565562 1 1538 10 1/0 0,255,255 +rs201565562 19 55340771 A G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340771 55340771 Chr19(GRCh37):g.55340771A>G 1001-45 1001-45 NM_001322168.1:c.1001-45A>G p.? p.? 7 6 604946 -45 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 12.1553 0 rs201565562 yes no Frequency/1000G 2 G 0.000000 0 0.005990 0.002300 0.015300 0.004000 0.006000 0.002900 0.000031 0.000336 0.000032 0.000000 0.000000 0.000000 0.000010 0.000000 0.000000 0.000336 7 5 1 0 0 0 1 0 0 224366 14888 30820 8912 16416 26764 105060 16440 5066 0.142857 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 5 3 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transition A G A>G 0.000 -3.830 220 PASS . 0.01 0.01 0.0035 0.01 0.0023 0.006 0.0029 0.004 0.006 0.015 . . . . . 0.21428572 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -1.1633 . . . . . . . . 7.411e-05 . . . 0.0004 5.934e-05 9.237e-05 0 0 0 0 0 0.0005 5.044e-05 9.518e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0060 . . . 0.2 0.26 182 ENSG00000167633 . KIR3DL1 . . . . . . 11 0.000169293 64976 10 0.000166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 3.12e-05 3.245e-05 0 0 0 9.518e-06 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . 0.01 . . rs201565562 rs201565562 1 1538 10 1/0 0,255,255 +rs45458503 19 55340794 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55340794 55340794 Chr19(GRCh37):g.55340794C>T *76766 *76766 NM_001291695.1:c.*76766C>T p.? p.? 8 604953 76910 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs45458503 yes no Frequency/1000G 2 T 0.000000 0 0.009185 0.014400 0.015300 0.004000 0.006000 0.002900 0.001186 0.010468 0.000908 0.000000 0.000000 0.000186 0.000218 0.000000 0.000000 0.010468 303 243 29 0 0 5 26 0 0 255490 23214 31946 9234 17992 26914 119440 20710 6040 0.000376 0.002929 0.000501 0.000000 0.000000 0.000000 0.000100 0.000000 0.000000 48 34 8 0 0 0 6 0 0 207 175 13 0 0 5 14 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8303 4306 12609 3 40 43 0.000361185 0.00920387 0.00339867 0.000361185 0.00920387 0.00339867 208 transition C T C>T 0.004 -1.247 191 PASS 0.02 0.01 . . . 0.014 0.0092 0.0029 0.004 0.006 0.015 . . . . . 0.13793103 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . 0.0092 0.0034 0.0004 0.0092 0.0034 0.0004 . -0.6435 . . . . . . . . 1.053e-03 . . . 0.0093 0.0014 0.0013 0 0 0.0002 0 0.0002 0.0099 0.0012 0.0013 0 0 0.0002 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0092 . . . 0.18 0.22 182 ENSG00000167633 . KIR3DL1 . . . . . . 50 0.000769515 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.003399 . . . . . 0.0101 0.0009 0.0009 0 0 0 0.0002 0 0.0002 0.0112 0.0035 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.02 rs45458503 rs45458503 rs45458503 rs45458503 1 1538 10 1.I 0,0,0 +rs45458503 19 55340794 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55340794 55340794 Chr19(GRCh37):g.55340794C>T 1001-22 1001-22 NM_001322168.1:c.1001-22C>T p.? p.? 7 6 604946 -22 3' 93.6714 X.11 0.990414 12.0542 93.6714 X.11 0.990414 XI.67 0 rs45458503 yes no Frequency/1000G 2 T 0.000000 0 0.009185 0.014400 0.015300 0.004000 0.006000 0.002900 0.001186 0.010468 0.000908 0.000000 0.000000 0.000186 0.000218 0.000000 0.000000 0.010468 303 243 29 0 0 5 26 0 0 255490 23214 31946 9234 17992 26914 119440 20710 6040 0.000376 0.002929 0.000501 0.000000 0.000000 0.000000 0.000100 0.000000 0.000000 48 34 8 0 0 0 6 0 0 207 175 13 0 0 5 14 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8303 4306 12609 3 40 43 0.000361185 0.00920387 0.00339867 0.000361185 0.00920387 0.00339867 208 transition C T C>T 0.004 -1.247 191 PASS 0.02 0.01 . . . 0.014 0.0092 0.0029 0.004 0.006 0.015 . . . . . 0.13793103 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . 0.0092 0.0034 0.0004 0.0092 0.0034 0.0004 . -0.6435 . . . . . . . . 1.053e-03 . . . 0.0093 0.0014 0.0013 0 0 0.0002 0 0.0002 0.0099 0.0012 0.0013 0 0 0.0002 0 0.0002 . . . . . . intronic intronic intronic . . . 0.0092 . . . 0.18 0.22 182 ENSG00000167633 . KIR3DL1 . . . . . . 50 0.000769515 64976 31 0.000516787 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.003399 . . . . . 0.0101 0.0009 0.0009 0 0 0 0.0002 0 0.0002 0.0112 0.0035 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . 0.02 rs45458503 rs45458503 rs45458503 rs45458503 1 1538 10 1.I 0,0,0 +rs749017908 19 55341357 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341357 55341357 Chr19(GRCh37):g.55341357C>G *77329 *77329 NM_001291695.1:c.*77329C>G p.? p.? 8 604953 77473 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs749017908 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000031 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000031 3 0 1 0 0 0 2 0 0 255386 22930 31812 9202 17870 26876 118918 21792 5986 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.004 -0.198 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.5119 . . . . . . . . 2.486e-05 . . . 0 3.622e-05 9.276e-05 0 0 5.128e-05 0 0 0 3.066e-05 9.557e-05 0 0 3.932e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.321e-05 3.222e-05 0 0 0 1.898e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749017908 19 55341357 C G - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55341357 55341357 Chr19(GRCh37):g.55341357C>G 1106-26 1106-26 NM_001322168.1:c.1106-26C>G p.? p.? 8 7 604946 -26 3' 84.4733 XI.99 0.936224 14.7782 84.4733 XI.99 0.936224 14.3217 0 rs749017908 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000031 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000031 3 0 1 0 0 0 2 0 0 255386 22930 31812 9202 17870 26876 118918 21792 5986 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C G C>G 0.004 -0.198 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.5119 . . . . . . . . 2.486e-05 . . . 0 3.622e-05 9.276e-05 0 0 5.128e-05 0 0 0 3.066e-05 9.557e-05 0 0 3.932e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.321e-05 3.222e-05 0 0 0 1.898e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs181475204 19 55341372 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341372 55341372 Chr19(GRCh37):g.55341372G>A *77344 *77344 NM_001291695.1:c.*77344G>A p.? p.? 8 604953 77488 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs181475204 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000413 0.003291 0.000313 0.000000 0.000838 0.000037 0.000025 0.000000 0.000166 0.003291 106 76 10 0 15 1 3 0 1 256876 23092 31980 9242 17908 26916 119294 22418 6026 0.000109 0.000693 0.000125 0.000000 0.000335 0.000000 0.000017 0.000000 0.000000 14 8 2 0 3 0 1 0 0 78 60 6 0 9 1 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5205 2961 8166 1 13 14 0.000192086 0.00437122 0.00171149 0.000192086 0.00437122 0.00171149 90 transition G A G>A 0.008 -0.279 182 PASS 0.0041 0.0009 . . . 0.0023 0.0006 . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0044 0.0017 0.0002 0.0044 0.0017 0.0002 . -0.3832 . . . . . . . . 4.134e-04 . . . 0.0039 0.0006 0.0005 0.0006 0 0 0 0 0.0040 0.0005 0.0005 0.0009 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.11 0.32 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0.001711 . . . . . 0.0036 0.0004 0.0003 0 0.0008 0 1.892e-05 0.0002 3.715e-05 0.0027 0.0009 0 0 0.0013 0 7.355e-05 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . 0.0044 . . rs181475204 rs181475204 1 1538 10 1/0 0,255,255 +rs181475204 19 55341372 G A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution intron GRCh37 55341372 55341372 Chr19(GRCh37):g.55341372G>A 1106-11 1106-11 NM_001322168.1:c.1106-11G>A p.? p.? 8 7 604946 -11 3' 84.4733 XI.99 0.936224 14.7782 84.4733 10.923 0.922751 14.2865 -0.0321624 rs181475204 yes no Frequency/1000G 2 G 0.000000 0 0.000599 0.002300 0.000000 0.000000 0.000000 0.000000 0.000413 0.003291 0.000313 0.000000 0.000838 0.000037 0.000025 0.000000 0.000166 0.003291 106 76 10 0 15 1 3 0 1 256876 23092 31980 9242 17908 26916 119294 22418 6026 0.000109 0.000693 0.000125 0.000000 0.000335 0.000000 0.000017 0.000000 0.000000 14 8 2 0 3 0 1 0 0 78 60 6 0 9 1 1 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 5205 2961 8166 1 13 14 0.000192086 0.00437122 0.00171149 0.000192086 0.00437122 0.00171149 90 transition G A G>A 0.008 -0.279 182 PASS 0.0041 0.0009 . . . 0.0023 0.0006 . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . 0.0044 0.0017 0.0002 0.0044 0.0017 0.0002 . -0.3832 . . . . . . . . 4.134e-04 . . . 0.0039 0.0006 0.0005 0.0006 0 0 0 0 0.0040 0.0005 0.0005 0.0009 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.11 0.32 182 ENSG00000167633 . KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0.001711 . . . . . 0.0036 0.0004 0.0003 0 0.0008 0 1.892e-05 0.0002 3.715e-05 0.0027 0.0009 0 0 0.0013 0 7.355e-05 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . 0.0044 . . rs181475204 rs181475204 1 1538 10 1/0 0,255,255 +. 19 55341621 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341621 55341621 Chr19(GRCh37):g.55341621G>C *77593 *77593 NM_001291695.1:c.*77593G>C p.? p.? 8 604953 77737 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion G C G>C 0.020 -0.763 219 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T . . 0.21014492 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.053 . . 138.0 . . . . . . . . . . -1.1461 -1.326 -1.146 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.060 0.003 . . 37 . 0.004 . . 0.398 . . . 0.624 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.485 . . 0 0 0 0 0 0 . 0.163 . . 0.166 . . . . . . 0 0.632 . . . . . . . 0.123 . HET 0.01 . . . . . . . . . . . . . . . . 0.719 -1.44 . 0.080000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.785 -0.785000 . . 0.080000 . . 1.0E-219 0.000 0.063 . 0.095 0.029 . 0.044 . 0.278 -0.785 0.697 . . . . . 1 1538 10 1/0 0,222,255 +. 19 55341621 G C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341621 55341621 Chr19(GRCh37):g.55341621G>C 1226 1226 NM_001322168.1:c.1226G>C p.Arg409Thr p.Arg409Thr 9 604946 68 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 12.752 0 transversion G C G>C 0.020 -0.763 R Arg AGA 0.205 T Thr ACA 0.280 409 11 2 Sumatran orangutan -1 -1 -2 0.65 0.71 10.V 8.VI 124 61 71 C0 353.86 0.00 Tolerated 0.37 II.92 219 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T . . 0.21014492 . . @ 29 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.053 . . 138.0 . . . . . . . . . . -1.1461 -1.326 -1.146 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.060 0.003 . . 37 . 0.004 . . 0.398 . . . 0.624 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.485 . . 0 0 0 0 0 0 . 0.163 . . 0.166 . . . . . . 0 0.632 . . . . . . . 0.123 . HET 0.01 . . . . . . . . . . . . . . . . 0.719 -1.44 . 0.080000 . . . . . . 0.027 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.785 -0.785000 . . 0.080000 . . 1.0E-219 0.000 0.063 . 0.095 0.029 . 0.044 . 0.278 -0.785 0.697 . . . . . 1 1538 10 1/0 0,222,255 +rs573252093 19 55341632 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341632 55341632 Chr19(GRCh37):g.55341632C>T *77604 *77604 NM_001291695.1:c.*77604C>T p.? p.? 8 604953 77748 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Weakly Activated 55341644 5.32302 0.843129 79.7396 5.20889 0.885489 83.0542 rs573252093 yes no Frequency/1000G 2 0.000200 T 1 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000048 0.000333 0.000096 0.000000 0.000000 0.000000 0.000019 0.000000 0.000194 0.000333 11 5 3 0 0 0 2 0 1 231278 15000 31380 9000 16524 26992 106452 20772 5158 0.090909 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 9 3 3 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transition C T C>T 0.000 0.609 223 PASS . . . . . 0.0008 0.0002 . . . . . . KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.223 . @ . . . . . 1 0.037 . . 139.0 . . . . . . . . . . -1.0185 -1.156 -1.018 c . . . . . 3.272e-05 . . . 0.0002 3.528e-05 9.166e-05 0 0 0 0 0 0.0001 2.007e-05 9.452e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.165 0.0002 . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.038 0.002 . . 37 . 0.004 . . 0.367 . . . 0.413 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.478 . . 0 0 0 0 0 0 . 0.161 . . 0.093 . . . . . . 0 0.491 . . . . . . . 0.129 . HET 0.05 . . . . . . . ID\x3dCOSM2156488\x3bOCCURENCE\x3d2(central_nervous_system) . . . . . . . . 0.569 0.569 . 0.100000 . . . . . . 0.040 . . . 0.0003 4.756e-05 9.56e-05 0 0 0 1.879e-05 0.0002 0 . . . . . . . . . . 0.133 . 0.567 0.567000 . . 0.100000 . . 1.0E-223 0.000 0.063 . 0.095 0.008 . 0.244 . 0.256 0.567 0.567 . . . . . 1 1538 10 1/0 0,223,255 +rs573252093 19 55341632 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341632 55341632 Chr19(GRCh37):g.55341632C>T 1237 1237 NM_001322168.1:c.1237C>T p.Arg413Cys p.Arg413Cys 9 604946 79 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XI.29 0 Cryptic Acceptor Weakly Activated 55341644 5.32302 0.843129 79.7396 5.20889 0.885489 83.0542 rs573252093 yes no Frequency/1000G 2 0.000200 T 1 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000048 0.000333 0.000096 0.000000 0.000000 0.000000 0.000019 0.000000 0.000194 0.000333 11 5 3 0 0 0 2 0 1 231278 15000 31380 9000 16524 26992 106452 20772 5158 0.090909 0.200000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 9 3 3 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transition C T C>T 0.000 0.609 R Arg CGC 0.190 C Cys TGC 0.552 413 11 2 Sumatran orangutan -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.08 II.97 223 PASS . . . . . 0.0008 0.0002 . . . . . . KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.223 . @ . . . . . 1 0.037 . . 139.0 . . . . . . . . . . -1.0185 -1.156 -1.018 c . . . . . 3.272e-05 . . . 0.0002 3.528e-05 9.166e-05 0 0 0 0 0 0.0001 2.007e-05 9.452e-05 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.165 0.0002 . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.038 0.002 . . 37 . 0.004 . . 0.367 . . . 0.413 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.478 . . 0 0 0 0 0 0 . 0.161 . . 0.093 . . . . . . 0 0.491 . . . . . . . 0.129 . HET 0.05 . . . . . . . ID\x3dCOSM2156488\x3bOCCURENCE\x3d2(central_nervous_system) . . . . . . . . 0.569 0.569 . 0.100000 . . . . . . 0.040 . . . 0.0003 4.756e-05 9.56e-05 0 0 0 1.879e-05 0.0002 0 . . . . . . . . . . 0.133 . 0.567 0.567000 . . 0.100000 . . 1.0E-223 0.000 0.063 . 0.095 0.008 . 0.244 . 0.256 0.567 0.567 . . . . . 1 1538 10 1/0 0,223,255 +. 19 55341633 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341633 55341633 Chr19(GRCh37):g.55341633G>C *77605 *77605 NM_001291695.1:c.*77605G>C p.? p.? 8 604953 77749 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Weakly Activated 55341644 5.32302 0.843129 79.7396 6.21474 0.923118 79.7396 transversion G C G>C 0.000 -1.489 223 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.033 . . 139.0 . . . . . . . . . . -1.5963 -1.719 -1.596 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.077 0.003 . . 37 . 0.003 . . 0.471 . . . 0.096 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.247 . . 0 0 0 0 0 0 . 0.026 . . 0.080 . . . . . . 0 0.384 . . . . . . . 0.094 . HET 0.11 . . . . . . . . . . . . . . . . 0.569 -1.14 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.579 -1.579000 . . 0.050000 . . 1.0E-223 0.000 0.063 . 0.090 0.011 . 0.065 . 0.029 -1.579 -2.442 . . . . . 1 1538 10 1/0 0,223,255 +. 19 55341633 G C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341633 55341633 Chr19(GRCh37):g.55341633G>C 1238 1238 NM_001322168.1:c.1238G>C p.Arg413Pro p.Arg413Pro 9 604946 80 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.96 0 Cryptic Acceptor Weakly Activated 55341644 5.32302 0.843129 79.7396 6.21474 0.923118 79.7396 transversion G C G>C 0.000 -1.489 R Arg CGC 0.190 P Pro CCC 0.328 413 11 2 Sumatran orangutan -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Tolerated 0.74 II.97 223 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P . . 0.22302158 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.009 . @ . . . . . 1 0.033 . . 139.0 . . . . . . . . . . -1.5963 -1.719 -1.596 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.092 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.077 0.003 . . 37 . 0.003 . . 0.471 . . . 0.096 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.247 . . 0 0 0 0 0 0 . 0.026 . . 0.080 . . . . . . 0 0.384 . . . . . . . 0.094 . HET 0.11 . . . . . . . . . . . . . . . . 0.569 -1.14 . 0.050000 . . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.579 -1.579000 . . 0.050000 . . 1.0E-223 0.000 0.063 . 0.090 0.011 . 0.065 . 0.029 -1.579 -2.442 . . . . . 1 1538 10 1/0 0,223,255 +. 19 55341658 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341658 55341658 Chr19(GRCh37):g.55341658C>T *77630 *77630 NM_001291695.1:c.*77630C>T p.? p.? 8 604953 77774 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition C T C>T 0.000 -0.360 223 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1263T:p.P421P . . 0.22077923 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . -0.4104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +. 19 55341658 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution synonymous exon GRCh37 55341658 55341658 Chr19(GRCh37):g.55341658C>T 1263 1263 NM_001322168.1:c.1263C>T p.Pro421= p.Pro421Pro 9 604946 105 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 transition C T C>T 0.000 -0.360 P Pro CCC 0.328 P Pro CCT 0.283 421 223 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1263T:p.P421P . . 0.22077923 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . -0.4104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs1049271 19 55341661 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341661 55341661 Chr19(GRCh37):g.55341661T>A *77633 *77633 NM_001291695.1:c.*77633T>A p.? p.? 8 604953 77777 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs1049271 yes no Frequency/1000G 2 0.000000 0 0.001797 0.001500 0.000000 0.000000 0.005000 0.002900 0.000060 0.000067 0.000064 0.000000 0.000060 0.000000 0.000075 0.000048 0.000194 0.000075 14 1 2 0 1 0 8 1 1 231406 14996 31414 9004 16532 27000 106512 20784 5164 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 2 0 0 0 0 0 2 0 0 10 1 2 0 1 0 4 1 1 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transversion T A T>A 0.004 -0.360 225 PASS . . . . . 0.0015 0.0018 0.0029 . 0.005 . . . KIR3DL1:NM_013289:exon9:c.T1266A:p.P422P . . 0.22666667 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . . . . . . . . . -0.5751 . . . . . . . . 5.561e-04 . . . 9.829e-05 0.0001 0.0004 0.0002 0 0.0002 0 0 0.0001 9.029e-05 0.0002 0.0001 0.0002 7.758e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.28 0.25 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . 36 0.000554051 64976 31 0.000516787 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.668e-05 6.05e-05 6.367e-05 0 6.049e-05 4.811e-05 7.511e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . rs1049271 rs1049271 rs1049271 rs1049271 1 1538 10 1/0 0,220,255 +rs1049271 19 55341661 T A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution synonymous exon GRCh37 55341661 55341661 Chr19(GRCh37):g.55341661T>A 1266 1266 NM_001322168.1:c.1266T>A p.Pro422= p.Pro422Pro 9 604946 108 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs1049271 yes no Frequency/1000G 2 0.000000 0 0.001797 0.001500 0.000000 0.000000 0.005000 0.002900 0.000060 0.000067 0.000064 0.000000 0.000060 0.000000 0.000075 0.000048 0.000194 0.000075 14 1 2 0 1 0 8 1 1 231406 14996 31414 9004 16532 27000 106512 20784 5164 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.250000 0.000000 0.000000 2 0 0 0 0 0 2 0 0 10 1 2 0 1 0 4 1 1 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transversion T A T>A 0.004 -0.360 P Pro CCT 0.283 P Pro CCA 0.274 422 225 PASS . . . . . 0.0015 0.0018 0.0029 . 0.005 . . . KIR3DL1:NM_013289:exon9:c.T1266A:p.P422P . . 0.22666667 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . . . . . . . . . -0.5751 . . . . . . . . 5.561e-04 . . . 9.829e-05 0.0001 0.0004 0.0002 0 0.0002 0 0 0.0001 9.029e-05 0.0002 0.0001 0.0002 7.758e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0018 . . . 0.28 0.25 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . 36 0.000554051 64976 31 0.000516787 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.668e-05 6.05e-05 6.367e-05 0 6.049e-05 4.811e-05 7.511e-05 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-225 . . . . . . . . . . . . rs1049271 rs1049271 rs1049271 rs1049271 1 1538 10 1/0 0,220,255 +rs199822561 19 55341672 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341672 55341672 Chr19(GRCh37):g.55341672T>C *77644 *77644 NM_001291695.1:c.*77644T>C p.? p.? 8 604953 77788 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transition T C T>C 0.008 -0.198 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T . . 0.22516556 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.004 . . 151.0 . . . . . . . . . . -1.5375 -1.651 -1.537 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.106 0.0014 . . . 0.22 0.28 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.051 0.003 . . 37 . 0.004 . . 0.413 . . . 0.383 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.090 . . 0.121 . . . . . . 0 0.388 . . . . . . . 0.080 . HET 0.49 . . . . . . . . . . . . . . . . 0.569 -0.727 . 0.020000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.235 -0.235000 . . 0.020000 . . 1.0E-224 0.000 0.063 . 0.043 0.034 . 0.044 . 0.004 -0.235 -1.542 . . . . . 1 1538 10 1/0 0,220,255 +rs199822561 19 55341672 T C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341672 55341672 Chr19(GRCh37):g.55341672T>C 1277 1277 NM_001322168.1:c.1277T>C p.Ile426Thr p.Ile426Thr 9 604946 119 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 transition T C T>C 0.008 -0.198 I Ile ATC 0.481 T Thr ACC 0.361 426 11 2 Sumatran orangutan -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C0 353.86 0.00 Tolerated 0.23 III.39 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T . . 0.22516556 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.004 . . 151.0 . . . . . . . . . . -1.5375 -1.651 -1.537 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.106 0.0014 . . . 0.22 0.28 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.051 0.003 . . 37 . 0.004 . . 0.413 . . . 0.383 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.011 . . 0 0 0 0 0 0 . 0.090 . . 0.121 . . . . . . 0 0.388 . . . . . . . 0.080 . HET 0.49 . . . . . . . . . . . . . . . . 0.569 -0.727 . 0.020000 . . . . . . 0.012 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.235 -0.235000 . . 0.020000 . . 1.0E-224 0.000 0.063 . 0.043 0.034 . 0.044 . 0.004 -0.235 -1.542 . . . . . 1 1538 10 1/0 0,220,255 +rs200821495 19 55341674 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341674 55341674 Chr19(GRCh37):g.55341674T>A *77646 *77646 NM_001291695.1:c.*77646T>A p.? p.? 8 604953 77790 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs200821495 yes no Frequency/1000G 2 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 0.000019 2 0 0 0 0 0 2 0 0 231422 14998 31410 9000 16530 27002 106534 20786 5162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transversion T A T>A 0.012 -0.198 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M . . 0.22377622 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.056 . . 143.0 . . . . . . . . . . -1.4886 -1.561 -1.489 c . . . . . 1.635e-05 . . . 0 2.351e-05 0 0 0 5.002e-05 0 0 0 2.006e-05 0 0 0 3.879e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.165 0.0014 . . . 0.29 0.28 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.003 . . 0.412 . . . 0.024 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.158 . . 0.093 . . . . . . 0 0.437 . . . . . . . 0.127 . HET 0.03 . . . . . . . . . . . . . . . . 0.569 0.569 . 0.030000 . . . . . . 0.006 . . . 0 8.642e-06 0 0 0 0 1.877e-05 0 0 . . . . . . . . . . 0.133 . -0.221 -0.221000 . . 0.030000 . . 1.0E-224 0.001 0.137 . 0.016 0.037 . 0.077 . 0.004 -0.221 -2.116 . . . . . 1 1538 10 1/0 0,222,255 +rs200821495 19 55341674 T A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341674 55341674 Chr19(GRCh37):g.55341674T>A 1279 1279 NM_001322168.1:c.1279T>A p.Leu427Met p.Leu427Met 9 604946 121 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs200821495 yes no Frequency/1000G 2 0.000000 0 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 0.000019 2 0 0 0 0 0 2 0 0 231422 14998 31410 9000 16530 27002 106534 20786 5162 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 164 Exomes transversion T A T>A 0.012 -0.198 L Leu TTG 0.127 M Met ATG 1.000 427 11 1 2 2 3 0 0 4.IX 5.VII 111 105 15 C0 353.86 0.00 Tolerated 0.06 III.39 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M . . 0.22377622 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.046 . @ . . . . . 1 0.056 . . 143.0 . . . . . . . . . . -1.4886 -1.561 -1.489 c . . . . . 1.635e-05 . . . 0 2.351e-05 0 0 0 5.002e-05 0 0 0 2.006e-05 0 0 0 3.879e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.165 0.0014 . . . 0.29 0.28 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.043 0.002 . . 37 . 0.003 . . 0.412 . . . 0.024 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.072 . . 0 0 0 0 0 0 . 0.158 . . 0.093 . . . . . . 0 0.437 . . . . . . . 0.127 . HET 0.03 . . . . . . . . . . . . . . . . 0.569 0.569 . 0.030000 . . . . . . 0.006 . . . 0 8.642e-06 0 0 0 0 1.877e-05 0 0 . . . . . . . . . . 0.133 . -0.221 -0.221000 . . 0.030000 . . 1.0E-224 0.001 0.137 . 0.016 0.037 . 0.077 . 0.004 -0.221 -2.116 . . . . . 1 1538 10 1/0 0,222,255 +rs72629105 19 55341681 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341681 55341681 Chr19(GRCh37):g.55341681C>T *77653 *77653 NM_001291695.1:c.*77653C>T p.? p.? 8 604953 77797 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs72629105 yes no Frequency 1 0.000000 0 0.000013 0.000200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000200 3 3 0 0 0 0 0 0 0 231426 15004 31400 8996 16530 27000 106560 20776 5160 0.333333 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 164 Exomes 8342 4341 12683 0 1 1 0 0.000230309 7.88395e-05 0 0.000230309 7.88395e-05 266 transition C T C>T 0.024 -0.360 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M . . 0.22580644 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.063 . . 155.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.2114 -1.357 -1.211 c . . . . . 4.088e-05 . . . 0.0004 4.704e-05 0 0 0 0 0 0 0.0005 5.016e-05 0 0 0 1.939e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.096 @ . . . 0.2 0.24 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.055 0.003 . . 37 . 0.003 . . 0.372 . . . 0.239 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.288 . . 0.227 . . . . . . 0 0.524 . . . . . . . 0.127 . HET 0.05 . . . . . . . . . . . . . . 2.71E-4 . 0.569 -1.01 . 0.060000 . . . . 0.000079 . 0.003 . . . 0.0002 1.296e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.398 -0.398000 . . 0.060000 . . 1.0E-224 0.000 0.063 . 0.016 0.085 . 0.021 . 0.004 -0.398 0.143 0.0002 . rs72629105 rs72629105 rs72629105 1 1538 10 1/0 0,219,255 +rs72629105 19 55341681 C T - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341681 55341681 Chr19(GRCh37):g.55341681C>T 1286 1286 NM_001322168.1:c.1286C>T p.Thr429Met p.Thr429Met 9 604946 128 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs72629105 yes no Frequency 1 0.000000 0 0.000013 0.000200 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000200 3 3 0 0 0 0 0 0 0 231426 15004 31400 8996 16530 27000 106560 20776 5160 0.333333 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 164 Exomes 8342 4341 12683 0 1 1 0 0.000230309 7.88395e-05 0 0.000230309 7.88395e-05 266 transition C T C>T 0.024 -0.360 T Thr ACG 0.116 M Met ATG 1.000 429 11 3 Rat -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 353.86 0.00 Tolerated 0.26 III.39 224 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M . . 0.22580644 . . @ 35 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.100 . @ . . . . . 1 0.063 . . 155.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -1.2114 -1.357 -1.211 c . . . . . 4.088e-05 . . . 0.0004 4.704e-05 0 0 0 0 0 0 0.0005 5.016e-05 0 0 0 1.939e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.096 @ . . . 0.2 0.24 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.055 0.003 . . 37 . 0.003 . . 0.372 . . . 0.239 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.040 . . 0 0 0 0 0 0 . 0.288 . . 0.227 . . . . . . 0 0.524 . . . . . . . 0.127 . HET 0.05 . . . . . . . . . . . . . . 2.71E-4 . 0.569 -1.01 . 0.060000 . . . . 0.000079 . 0.003 . . . 0.0002 1.296e-05 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -0.398 -0.398000 . . 0.060000 . . 1.0E-224 0.000 0.063 . 0.016 0.085 . 0.021 . 0.004 -0.398 0.143 0.0002 . rs72629105 rs72629105 rs72629105 1 1538 10 1/0 0,219,255 +. 19 55341703 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341703 55341703 Chr19(GRCh37):g.55341703C>A *77675 *77675 NM_001291695.1:c.*77675C>A p.? p.? 8 604953 77819 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 transversion C A C>A 0.008 0.690 217 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1308A:p.P436P . . 0.205298 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 19 55341703 C A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution synonymous exon GRCh37 55341703 55341703 Chr19(GRCh37):g.55341703C>A 1308 1308 NM_001322168.1:c.1308C>A p.Pro436= p.Pro436Pro 9 604946 150 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 transversion C A C>A 0.008 0.690 P Pro CCC 0.328 P Pro CCA 0.274 436 217 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.C1308A:p.P436P . . 0.205298 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 151.0 . . . . . . . . . . -0.2598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-217 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,218,255 +. 19 55341708 CCAAA C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 deletion downstream GRCh37 55341709 55341712 Chr19(GRCh37):g.55341709_55341712del *77681 *77684 NM_001291695.1:c.*77681_*77684del p.? p.? 8 604953 77825 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 CAAA 255 Pass . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.1314_1317del:p.S438fs . . 0.21323529 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,67 +. 19 55341708 CCAAA C - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 deletion frameshift exon GRCh37 55341709 55341712 Chr19(GRCh37):g.55341709_55341712del 1314 1317 NM_001322168.1:c.1314_1317del p.Lys439Leufs*38 p.Lys439Leufs*38 9 604946 156 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 CAAA 255 Pass . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.1314_1317del:p.S438fs . . 0.21323529 . . . 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . frameshift_deletion frameshift_deletion frameshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,67 +rs778020788 19 55341713 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341713 55341713 Chr19(GRCh37):g.55341713G>A *77685 *77685 NM_001291695.1:c.*77685G>A p.? p.? 8 604953 77829 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs778020788 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 231244 14998 31386 8998 16514 26996 106432 20762 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 163 Exomes transition G A G>A 0.000 -1.005 204 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1318A:p.V440I . . 0.17054264 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.346 . @ . . . . . 1 0.540 . . 129.0 . . . . . . . . . . -0.5556 -0.937 -0.556 c . . . . . 8.188e-06 . . . 0 1.176e-05 0 0 0 2.502e-05 0 0 0 1.004e-05 0 0 0 1.94e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.010 . . 0.457 . . . 0.826 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.670 . . 0.790 . . . . . . 0 0.912 . . . . . 0.045 . 0.072 . HET 0 . . . . . . . . . . . . . II.31 . . 0.736 -1.47 . 0.000000 . . . . . . 0.003 . . . 0 4.324e-06 0 0 0 0 9.396e-06 0 0 . . . . . . . . . . 0.133 . -1.142 -1.142000 . . 0.000000 . . 1.0E-204 0.000 0.063 . 0.062 0.034 . 0.024 . 0.031 -1.142 0.150 . . . . . 1 1538 10 1/0 0,222,255 +rs778020788 19 55341713 G A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution missense exon GRCh37 55341713 55341713 Chr19(GRCh37):g.55341713G>A 1318 1318 NM_001322168.1:c.1318G>A p.Val440Ile p.Val440Ile 9 604946 160 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs778020788 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000009 1 0 0 0 0 0 1 0 0 231244 14998 31386 8998 16514 26996 106432 20762 5158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 163 Exomes transition G A G>A 0.000 -1.005 V Val GTT 0.178 I Ile ATT 0.356 440 11 2 Sumatran orangutan 3 3 4 0 0 5.IX 5.II 84 111 29 C0 353.86 0.00 Deleterious 0 IV.32 204 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1318A:p.V440I . . 0.17054264 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.346 . @ . . . . . 1 0.540 . . 129.0 . . . . . . . . . . -0.5556 -0.937 -0.556 c . . . . . 8.188e-06 . . . 0 1.176e-05 0 0 0 2.502e-05 0 0 0 1.004e-05 0 0 0 1.94e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.083 @ . . . . . . ENSG00000167633 KIR3DL1 KIR3DL1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.001 . . 37 . 0.010 . . 0.457 . . . 0.826 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.107 . . 0 0 0 0 0 0 . 0.670 . . 0.790 . . . . . . 0 0.912 . . . . . 0.045 . 0.072 . HET 0 . . . . . . . . . . . . . II.31 . . 0.736 -1.47 . 0.000000 . . . . . . 0.003 . . . 0 4.324e-06 0 0 0 0 9.396e-06 0 0 . . . . . . . . . . 0.133 . -1.142 -1.142000 . . 0.000000 . . 1.0E-204 0.000 0.063 . 0.062 0.034 . 0.024 . 0.031 -1.142 0.150 . . . . . 1 1538 10 1/0 0,222,255 +rs368698449 19 55341729 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55341729 55341729 Chr19(GRCh37):g.55341729G>A *77701 *77701 NM_001291695.1:c.*77701G>A p.? p.? 8 604953 77845 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs368698449 yes no Frequency 1 0.000000 0 0.000035 0.000122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000122 1 1 0 0 0 0 0 0 0 28398 8172 774 266 1508 0 13582 3190 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes 8336 4341 12677 0 1 1 0 0.000230309 7.88768e-05 0 0.000230309 7.88768e-05 196 transition G A G>A 0.217 0.690 208 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1334A:p.X445X . . 0.17886178 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 123.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.1786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.26 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000079 . . . . . . . . . . . . . . 0.0001 3.521e-05 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.0002 . . rs368698449 rs368698449 1 1538 10 1/0 0,225,255 +rs368698449 19 55341729 G A - KIR3DL1 6338 Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 NM_001322168.1 1 1901 1335 NP_001309097.1 P43629 substitution synonymous exon GRCh37 55341729 55341729 Chr19(GRCh37):g.55341729G>A 1334 1334 NM_001322168.1:c.1334G>A p.*445= p.*445* 9 604946 176 3' 90.5732 9.36118 0.982185 XII.47 90.5732 9.36118 0.982185 XII.47 0 rs368698449 yes no Frequency 1 0.000000 0 0.000035 0.000122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000122 1 1 0 0 0 0 0 0 0 28398 8172 774 266 1508 0 13582 3190 906 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 36 Genomes 8336 4341 12677 0 1 1 0 0.000230309 7.88768e-05 0 0.000230309 7.88768e-05 196 transition G A G>A 0.217 0.690 * * TGA 0.489 * * TAA 0.277 445 208 PASS . . . . . . . . . . . . . KIR3DL1:NM_013289:exon9:c.G1334A:p.X445X . . 0.17886178 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 123.0 . . . 0.0002 0.0001 . 0.0002 0.0001 . . -0.1786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.2 0.26 182 ENSG00000167633 KIR3DL1 KIR3DL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000079 . . . . . . . . . . . . . . 0.0001 3.521e-05 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-209 . . . . . . . . . . . 0.0002 . . rs368698449 rs368698449 1 1538 10 1/0 0,225,255 +rs113238685 19 55344267 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55344267 55344267 Chr19(GRCh37):g.55344267G>A *80239 *80239 NM_001291695.1:c.*80239G>A p.? p.? 8 604953 80383 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs113238685 no no 0 0.000000 0 transition G A G>A 0.677 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.3220339 . . @ 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 413.0 . . . . . . . . . . -0.4112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113238685 rs113238685 1 1538 10 1/0 0,186,249 +rs113238685 19 55344267 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55344267 55344267 Chr19(GRCh37):g.55344267G>A 34+14 34+14 NM_001281971.1:c.34+14G>A p.? p.? 1 1 604955 14 5' 82.9985 9.27414 0.977682 11.0617 82.9985 9.27414 0.977682 X.09 0 rs113238685 no no 0 0.000000 0 transition G A G>A 0.677 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.3220339 . . @ 133 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 413.0 . . . . . . . . . . -0.4112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.19 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs113238685 rs113238685 1 1538 10 1/0 0,186,249 +rs750525542 19 55344285 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55344285 55344285 Chr19(GRCh37):g.55344285C>T *80257 *80257 NM_001291695.1:c.*80257C>T p.? p.? 8 604953 80401 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs750525542 yes no Frequency 1 0.000000 0 0.000022 0.000067 0.000000 0.000000 0.000000 0.000000 0.000038 0.000000 0.000000 0.000067 5 1 0 0 0 0 4 0 0 228418 14884 31216 8972 16414 26944 105636 19232 5120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 89 Exomes transition C T C>T 0.024 -1.489 226 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 364.0 . . . . . . . . . . -0.5550 . . . . . . . . 1.651e-05 . . . 0 2.381e-05 0 0 0 5.073e-05 0 0 0 2.02e-05 0 0 0 3.901e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.719e-05 2.189e-05 0 0 0 0 3.787e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs750525542 19 55344285 C T - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55344285 55344285 Chr19(GRCh37):g.55344285C>T 34+32 34+32 NM_001281971.1:c.34+32C>T p.? p.? 1 1 604955 32 5' 82.9985 9.27414 0.977682 11.0617 82.9985 9.27414 0.977682 X.61 0 rs750525542 yes no Frequency 1 0.000000 0 0.000022 0.000067 0.000000 0.000000 0.000000 0.000000 0.000038 0.000000 0.000000 0.000067 5 1 0 0 0 0 4 0 0 228418 14884 31216 8972 16414 26944 105636 19232 5120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 89 Exomes transition C T C>T 0.024 -1.489 226 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 84 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 364.0 . . . . . . . . . . -0.5550 . . . . . . . . 1.651e-05 . . . 0 2.381e-05 0 0 0 5.073e-05 0 0 0 2.02e-05 0 0 0 3.901e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.719e-05 2.189e-05 0 0 0 0 3.787e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,183,255 +rs111922136 19 55344287 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55344287 55344287 Chr19(GRCh37):g.55344287T>C *80259 *80259 NM_001291695.1:c.*80259T>C p.? p.? 8 604953 80403 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs111922136 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 0.000000 0.000000 0.000061 1 0 0 0 1 0 0 0 0 227544 14802 31046 8948 16316 26872 105242 19238 5080 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 89 Exomes transition T C T>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.7746479 . . @ 275 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 355.0 . . . . . . . . . . -0.5594 . . . . . . . . 8.257e-06 . . . 0 1.19e-05 0 0.0002 0 0 0 0 0 1.01e-05 0 0.0001 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.16 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.395e-06 0 0 6.129e-05 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72629111 rs72629111 rs111922136 1 1538 10 1/0 0,214,211 +rs111922136 19 55344287 T C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55344287 55344287 Chr19(GRCh37):g.55344287T>C 34+34 34+34 NM_001281971.1:c.34+34T>C p.? p.? 1 1 604955 34 5' 82.9985 9.27414 0.977682 11.0617 82.9985 9.27414 0.977682 X.65 0 rs111922136 yes no Frequency 1 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000061 0.000000 0.000000 0.000000 0.000000 0.000061 1 0 0 0 1 0 0 0 0 227544 14802 31046 8948 16316 26872 105242 19238 5080 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 89 Exomes transition T C T>C 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.7746479 . . @ 275 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 355.0 . . . . . . . . . . -0.5594 . . . . . . . . 8.257e-06 . . . 0 1.19e-05 0 0.0002 0 0 0 0 0 1.01e-05 0 0.0001 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.14 0.16 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.395e-06 0 0 6.129e-05 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72629111 rs72629111 rs111922136 1 1538 10 1/0 0,214,211 +rs2916051 19 55344322 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55344322 55344322 Chr19(GRCh37):g.55344322G>A *80294 *80294 NM_001291695.1:c.*80294G>A p.? p.? 8 604953 80438 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs2916051 yes no Frequency/1000G 2 0.000000 0 transition G A G>A 0.000 -0.360 255 PASS 0.01 0.0046 0.01 . 0.01 . . . . . . . . . . . 0.6609442 . . @ 154 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . . . . . . . . -0.5202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.06 0.11 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2916051 rs2916051 rs2916051 rs2916051 1 1538 10 1/0 0,240,248 +rs2916051 19 55344322 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55344322 55344322 Chr19(GRCh37):g.55344322G>A 34+69 34+69 NM_001281971.1:c.34+69G>A p.? p.? 1 1 604955 69 5' 82.9985 9.27414 0.977682 11.0617 82.9985 9.27414 0.977682 X.48 0 rs2916051 yes no Frequency/1000G 2 0.000000 0 transition G A G>A 0.000 -0.360 255 PASS 0.01 0.0046 0.01 . 0.01 . . . . . . . . . . . 0.6609442 . . @ 154 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 233.0 . . . . . . . . . . -0.5202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.06 0.11 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2916051 rs2916051 rs2916051 rs2916051 1 1538 10 1/0 0,240,248 +rs370536807 19 55346386 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346386 55346386 Chr19(GRCh37):g.55346386A>C *82358 *82358 NM_001291695.1:c.*82358A>C p.? p.? 8 604953 82502 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs370536807 no no 0 0.000000 0 0.000431 0.000371 0.001326 0.000000 0.000000 0.000000 0.000530 0.000317 0.000000 0.001326 12 3 1 0 0 0 7 1 0 27810 8078 754 252 1496 0 13204 3154 872 0.083333 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 10 1 1 0 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A C A>C 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 162.0 . . . . . . . . . . -0.6104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.054 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0013 0 0 0.0003 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.054 . . rs370536807 rs370536807 1 1538 10 1/0 0,242,248 +rs370536807 19 55346386 A C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346386 55346386 Chr19(GRCh37):g.55346386A>C 35-148 35-148 NM_001281971.1:c.35-148A>C p.? p.? 2 1 604955 -148 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.114 0 rs370536807 no no 0 0.000000 0 0.000431 0.000371 0.001326 0.000000 0.000000 0.000000 0.000530 0.000317 0.000000 0.001326 12 3 1 0 0 0 7 1 0 27810 8078 754 252 1496 0 13204 3154 872 0.083333 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 1 0 0 0 0 0 0 0 10 1 1 0 0 0 7 1 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion A C A>C 0.000 -1.167 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 162.0 . . . . . . . . . . -0.6104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.054 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0004 0.0013 0 0 0.0003 0.0005 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.054 . . rs370536807 rs370536807 1 1538 10 1/0 0,242,248 +rs186270835 19 55346414 T G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346414 55346414 Chr19(GRCh37):g.55346414T>G *82386 *82386 NM_001291695.1:c.*82386T>G p.? p.? 8 604953 82530 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs186270835 yes no Frequency/1000G 2 0.000000 0 0.024161 0.007600 0.067500 0.015900 0.019900 0.013000 0.001093 0.003790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003790 31 31 0 0 0 0 0 0 0 28370 8180 766 268 1510 0 13562 3182 902 0.064516 0.064516 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 27 27 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion T G T>G 0.000 -1.570 255 PASS 0.01 0.0027 . . . 0.0076 0.024 0.013 0.016 0.02 0.068 . . . . . 0.5276074 . . @ 86 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . -0.7098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0242 . . . 0.08 0.13 182 . . KIR2DS4 . . . . . . 419 0.00644853 64976 329 0.00548461 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.120 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0011 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 . . rs186270835 rs186270835 1 1538 10 1/0 0,243,255 +rs186270835 19 55346414 T G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346414 55346414 Chr19(GRCh37):g.55346414T>G 35-120 35-120 NM_001281971.1:c.35-120T>G p.? p.? 2 1 604955 -120 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.114 0 rs186270835 yes no Frequency/1000G 2 0.000000 0 0.024161 0.007600 0.067500 0.015900 0.019900 0.013000 0.001093 0.003790 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003790 31 31 0 0 0 0 0 0 0 28370 8180 766 268 1510 0 13562 3182 902 0.064516 0.064516 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 27 27 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion T G T>G 0.000 -1.570 255 PASS 0.01 0.0027 . . . 0.0076 0.024 0.013 0.016 0.02 0.068 . . . . . 0.5276074 . . @ 86 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . -0.7098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0242 . . . 0.08 0.13 182 . . KIR2DS4 . . . . . . 419 0.00644853 64976 329 0.00548461 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.120 0.145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0011 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 . . rs186270835 rs186270835 1 1538 10 1/0 0,243,255 +rs373284780 19 55346443 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346443 55346443 Chr19(GRCh37):g.55346443G>C *82415 *82415 NM_001291695.1:c.*82415G>C p.? p.? 8 604953 82559 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs373284780 no no 0 0.000000 0 transversion G C G>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.45751634 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.5016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.065 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs373284780 rs373284780 1 1538 10 1/0 0,243,255 +rs373284780 19 55346443 G C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346443 55346443 Chr19(GRCh37):g.55346443G>C 35-91 35-91 NM_001281971.1:c.35-91G>C p.? p.? 2 1 604955 -91 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.114 0 rs373284780 no no 0 0.000000 0 transversion G C G>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.45751634 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . -0.5016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.065 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs373284780 rs373284780 1 1538 10 1/0 0,243,255 +rs375560081 19 55346451 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346451 55346451 Chr19(GRCh37):g.55346451T>C *82423 *82423 NM_001291695.1:c.*82423T>C p.? p.? 8 604953 82567 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs375560081 no no 0 0.000000 0 transition T C T>C 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.3586207 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.7305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.065 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs375560081 rs375560081 1 1538 10 1/0 0,237,255 +rs375560081 19 55346451 T C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346451 55346451 Chr19(GRCh37):g.55346451T>C 35-83 35-83 NM_001281971.1:c.35-83T>C p.? p.? 2 1 604955 -83 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.114 0 55346453 -24.7594 rs375560081 no no 0 0.000000 0 transition T C T>C 0.000 -1.812 255 PASS . . . . . . . . . . . . . . . . 0.3586207 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 145.0 . . . . . . . . . . -0.7305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.065 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 . . rs375560081 rs375560081 1 1538 10 1/0 0,237,255 +rs540088615 19 55346466 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346466 55346466 Chr19(GRCh37):g.55346466C>T *82438 *82438 NM_001291695.1:c.*82438C>T p.? p.? 8 604953 82582 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs540088615 yes no Frequency/1000G 2 0.000000 0 0.016374 0.004500 0.040900 0.011900 0.016900 0.010100 transition C T C>T 0.118 1.255 255 PASS . . . . . 0.0045 0.016 0.01 0.012 0.017 0.041 . . . . . 0.35074627 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . -0.3502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0164 . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . . . 1 1538 10 1/0 0,240,255 +rs540088615 19 55346466 C T - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346466 55346466 Chr19(GRCh37):g.55346466C>T 35-68 35-68 NM_001281971.1:c.35-68C>T p.? p.? 2 1 604955 -68 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 6.97931 0 rs540088615 yes no Frequency/1000G 2 0.000000 0 0.016374 0.004500 0.040900 0.011900 0.016900 0.010100 transition C T C>T 0.118 1.255 255 PASS . . . . . 0.0045 0.016 0.01 0.012 0.017 0.041 . . . . . 0.35074627 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 134.0 . . . . . . . . . . -0.3502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0164 . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . . . 1 1538 10 1/0 0,240,255 +rs148171453 19 55346474 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346474 55346474 Chr19(GRCh37):g.55346474G>A *82446 *82446 NM_001291695.1:c.*82446G>A p.? p.? 8 604953 82590 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs148171453 yes no Frequency/1000G 2 0.000000 0 0.016174 0.004500 0.040900 0.011900 0.016900 0.008600 transition G A G>A 0.173 1.255 255 PASS . . . . . 0.0045 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.33333334 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . -0.2788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.11 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148171453 rs148171453 1 1538 10 1/0 0,240,255 +rs148171453 19 55346474 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346474 55346474 Chr19(GRCh37):g.55346474G>A 35-60 35-60 NM_001281971.1:c.35-60G>A p.? p.? 2 1 604955 -60 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 6.95799 0 rs148171453 yes no Frequency/1000G 2 0.000000 0 0.016174 0.004500 0.040900 0.011900 0.016900 0.008600 transition G A G>A 0.173 1.255 255 PASS . . . . . 0.0045 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.33333334 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . -0.2788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.11 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148171453 rs148171453 1 1538 10 1/0 0,240,255 +rs145598651 19 55346475 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346475 55346475 Chr19(GRCh37):g.55346475C>T *82447 *82447 NM_001291695.1:c.*82447C>T p.? p.? 8 604953 82591 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs145598651 yes no Frequency/1000G 2 0.000000 0 0.016174 0.004500 0.040900 0.011900 0.016900 0.008600 transition C T C>T 0.087 1.255 251 PASS . . . . . 0.0045 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.30952382 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.2924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.15 0.12 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs145598651 rs145598651 1 1538 10 1/0 0,238,255 +rs145598651 19 55346475 C T - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346475 55346475 Chr19(GRCh37):g.55346475C>T 35-59 35-59 NM_001281971.1:c.35-59C>T p.? p.? 2 1 604955 -59 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.29622 0 rs145598651 yes no Frequency/1000G 2 0.000000 0 0.016174 0.004500 0.040900 0.011900 0.016900 0.008600 transition C T C>T 0.087 1.255 251 PASS . . . . . 0.0045 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.30952382 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.2924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.15 0.12 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . rs145598651 rs145598651 1 1538 10 1/0 0,238,255 +rs146702057 19 55346490 T G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346490 55346490 Chr19(GRCh37):g.55346490T>G *82462 *82462 NM_001291695.1:c.*82462T>G p.? p.? 8 604953 82606 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Donor Strongly Activated 55346490 0.000339 53.0461 0.724257 0.005875 65.6611 rs146702057 yes no Frequency/1000G 2 0.000000 0 0.016374 0.005300 0.040900 0.011900 0.016900 0.008600 0.000030 0.000000 0.000032 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 0.000057 7 0 1 0 0 0 6 0 0 229812 14978 31150 8926 16476 26948 105526 20694 5114 0.285714 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 2 0 0 0 0 0 2 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 136 Exomes transversion T G T>G 0.016 -0.198 255 PASS . . . . . 0.0053 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.32743362 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . . . . . . . -0.4983 . . . . . . . . 4.507e-04 . . . 0 5.886e-05 0 0.0002 0 0.0001 0 0 0 1.005e-05 0 0.0001 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0164 . . . 0.22 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.046e-05 3.21e-05 0 0 0 5.686e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs146702057 rs146702057 1 1538 10 1/0 0,244,255 +rs146702057 19 55346490 T G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346490 55346490 Chr19(GRCh37):g.55346490T>G 35-44 35-44 NM_001281971.1:c.35-44T>G p.? p.? 2 1 604955 -44 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.17388 0 Cryptic Donor Strongly Activated 55346490 0.000339 53.0461 0.724257 0.005875 65.6611 rs146702057 yes no Frequency/1000G 2 0.000000 0 0.016374 0.005300 0.040900 0.011900 0.016900 0.008600 0.000030 0.000000 0.000032 0.000000 0.000000 0.000000 0.000057 0.000000 0.000000 0.000057 7 0 1 0 0 0 6 0 0 229812 14978 31150 8926 16476 26948 105526 20694 5114 0.285714 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 2 0 0 0 0 0 2 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 136 Exomes transversion T G T>G 0.016 -0.198 255 PASS . . . . . 0.0053 0.016 0.0086 0.012 0.017 0.041 . . . . . 0.32743362 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 113.0 . . . . . . . . . . -0.4983 . . . . . . . . 4.507e-04 . . . 0 5.886e-05 0 0.0002 0 0.0001 0 0 0 1.005e-05 0 0.0001 0 0 0 0 . . . . . . intronic intronic intronic . . . 0.0164 . . . 0.22 0.08 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.046e-05 3.21e-05 0 0 0 5.686e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 . . rs146702057 rs146702057 1 1538 10 1/0 0,244,255 +rs143336635 19 55346502 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55346502 55346502 Chr19(GRCh37):g.55346502A>G *82474 *82474 NM_001291695.1:c.*82474A>G p.? p.? 8 604953 82618 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 New Acceptor Site 55346503 8.48663 0.777392 91.5311 rs143336635 yes no Frequency 1 0.000000 0 0.000091 0.000000 0.000000 0.000000 0.000000 0.000000 0.000180 0.000048 0.000195 0.000180 21 0 0 0 0 0 19 1 1 230144 14982 31212 8934 16496 26950 105730 20712 5128 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.157895 0.000000 0.000000 3 0 0 0 0 0 3 0 0 15 0 0 0 0 0 13 1 1 0 0 0 0 0 0 0 0 0 RF 137 Exomes transition A G A>G 0.024 -1.086 248 PASS . . . . . . . . . . . . . . . . 0.2990654 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.6004 . . . . . . . . 3.115e-03 . . . 0 0.0002 0 0 0 0.0004 0.0015 0.0001 0 0.0002 0 0 0.0002 0.0003 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.13 0.07 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.125e-05 0 0 0 4.828e-05 0.0002 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.033 . . rs143336635 rs143336635 1 1538 10 1/0 0,243,255 +rs143336635 19 55346502 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55346502 55346502 Chr19(GRCh37):g.55346502A>G 35-32 35-32 NM_001281971.1:c.35-32A>G p.? p.? 2 1 604955 -32 3' 96.9454 9.89617 0.996298 7.114 96.9454 9.89617 0.996298 7.09783 0 New Acceptor Site 55346503 8.48663 0.777392 91.5311 rs143336635 yes no Frequency 1 0.000000 0 0.000091 0.000000 0.000000 0.000000 0.000000 0.000000 0.000180 0.000048 0.000195 0.000180 21 0 0 0 0 0 19 1 1 230144 14982 31212 8934 16496 26950 105730 20712 5128 0.142857 0.000000 0.000000 0.000000 0.000000 0.000000 0.157895 0.000000 0.000000 3 0 0 0 0 0 3 0 0 15 0 0 0 0 0 13 1 1 0 0 0 0 0 0 0 0 0 RF 137 Exomes transition A G A>G 0.024 -1.086 248 PASS . . . . . . . . . . . . . . . . 0.2990654 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 107.0 . . . . . . . . . . -0.6004 . . . . . . . . 3.115e-03 . . . 0 0.0002 0 0 0 0.0004 0.0015 0.0001 0 0.0002 0 0 0.0002 0.0003 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . 0.13 0.07 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . 0.033 0.036 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.125e-05 0 0 0 4.828e-05 0.0002 0.0002 0 . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . 0.033 . . rs143336635 rs143336635 1 1538 10 1/0 0,243,255 +rs760481684 19 55354367 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55354367 55354367 Chr19(GRCh37):g.55354367A>G *90339 *90339 NM_001291695.1:c.*90339A>G p.? p.? 8 604953 90483 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000166 0.000017 3 0 0 0 0 0 2 0 1 258346 23192 32006 9208 17988 26912 119168 23860 6012 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 AC0 0 Exomes+Genomes transition A G A>G 0.031 0.528 196 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon6:c.A685G:p.K229E KIR2DS4:NM_001281971:exon5:c.A687G:p.P229P . . 0.15 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.3489 . . . . . . . . 8.233e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 unknown nonsynonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.25 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.305e-05 0 0 0 0 1.896e-05 0.0002 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs1130508 rs1130508 rs1130508 rs1130508 1 1538 10 1/0 0,252,255 +rs760481684 19 55354367 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution synonymous exon GRCh37 55354367 55354367 Chr19(GRCh37):g.55354367A>G 687 687 NM_001281971.1:c.687A>G p.Pro229= p.Pro229Pro 5 604955 -7 5' 86.7234 X.83 0.995929 9.67654 86.7234 X.83 0.995859 10.0735 -2.34287e-05 0.000012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000166 0.000017 3 0 0 0 0 0 2 0 1 258346 23192 32006 9208 17988 26912 119168 23860 6012 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 AC0 0 Exomes+Genomes transition A G A>G 0.031 0.528 P Pro CCA 0.274 P Pro CCG 0.115 229 196 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon6:c.A685G:p.K229E KIR2DS4:NM_001281971:exon5:c.A687G:p.P229P . . 0.15 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 60.0 . . . . . . . . . . -0.3489 . . . . . . . . 8.233e-06 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 unknown nonsynonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.27 0.25 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.305e-05 0 0 0 0 1.896e-05 0.0002 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs1130508 rs1130508 rs1130508 rs1130508 1 1538 10 1/0 0,252,255 +rs368334586 19 55354409 C A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55354409 55354409 Chr19(GRCh37):g.55354409C>A *90381 *90381 NM_001291695.1:c.*90381C>A p.? p.? 8 604953 90525 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs368334586 yes no Frequency 1 0.000000 0 0.000110 0.000087 0.000000 0.000000 0.001232 0.000038 0.000025 0.000000 0.000000 0.001232 28 2 0 0 22 1 3 0 0 254912 23024 31100 8990 17854 26250 118034 23718 5942 0.000039 0.000087 0.000000 0.000000 0.000336 0.000000 0.000017 0.000000 0.000000 5 1 0 0 3 0 1 0 0 18 0 0 0 16 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.7206 . . . . . . . . 7.433e-05 . . . 9.938e-05 7.112e-05 0 0.0007 0 2.527e-05 0 0 0.0001 8.092e-05 0 0.0008 0 1.959e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0.0012 0 2.875e-05 0 3.81e-05 0 0.0001 0 0 0.0020 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs368334586 rs368334586 1 1538 10 1/0 0,255,255 +rs368334586 19 55354409 C A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55354409 55354409 Chr19(GRCh37):g.55354409C>A 693+36 693+36 NM_001281971.1:c.693+36C>A p.? p.? 5 5 604955 36 5' 86.7234 X.83 0.995929 9.67654 86.7234 X.83 0.995929 9.27773 0 rs368334586 yes no Frequency 1 0.000000 0 0.000110 0.000087 0.000000 0.000000 0.001232 0.000038 0.000025 0.000000 0.000000 0.001232 28 2 0 0 22 1 3 0 0 254912 23024 31100 8990 17854 26250 118034 23718 5942 0.000039 0.000087 0.000000 0.000000 0.000336 0.000000 0.000017 0.000000 0.000000 5 1 0 0 3 0 1 0 0 18 0 0 0 16 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.7206 . . . . . . . . 7.433e-05 . . . 9.938e-05 7.112e-05 0 0.0007 0 2.527e-05 0 0 0.0001 8.092e-05 0 0.0008 0 1.959e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0.0012 0 2.875e-05 0 3.81e-05 0 0.0001 0 0 0.0020 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs368334586 rs368334586 1 1538 10 1/0 0,255,255 +rs144486451 19 55358645 C T - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358645 55358645 Chr19(GRCh37):g.55358645C>T *94617 *94617 NM_001291695.1:c.*94617C>T p.? p.? 8 604953 94761 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs144486451 no no 0 0.000000 0 transition C T C>T 0.004 -0.037 237 PASS . . . . . . . . . . . UNKNOWN . . . . 0.2616279 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 344.0 . . . . . . . . . . -0.3504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.3 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs79131306 rs144486451 1 1538 10 1/0 0,187,248 +rs144486451 19 55358645 C T - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution missense exon GRCh37 55358645 55358645 Chr19(GRCh37):g.55358645C>T 700 700 NM_001281971.1:c.700C>T p.Pro234Ser p.Pro234Ser 6 604955 7 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.988066 X.28 -5.05962e-05 rs144486451 no no 0 0.000000 0 transition C T C>T 0.004 -0.037 P Pro CCA 0.274 S Ser TCA 0.148 234 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 237 PASS . . . . . . . . . . . UNKNOWN . . . . 0.2616279 . . @ 90 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 344.0 . . . . . . . . . . -0.3504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.3 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs79131306 rs144486451 1 1538 10 1/0 0,187,248 +rs113664264 19 55358655 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358655 55358655 Chr19(GRCh37):g.55358655A>G *94627 *94627 NM_001291695.1:c.*94627A>G p.? p.? 8 604953 94771 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs113664264 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.037 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc010esg.1:exon5:c.A659G:p.Y220C . . . 0.5988539 . . @ 209 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 349.0 . . . . . . . . . . -0.4193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1654643 rs1654643 rs1654643 rs113664264 1 1538 10 1/0 0,210,215 +rs113664264 19 55358655 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution missense exon GRCh37 55358655 55358655 Chr19(GRCh37):g.55358655A>G 710 710 NM_001281971.1:c.710A>G p.Tyr237Cys p.Tyr237Cys 6 604955 17 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.987683 11.206 -0.000179785 rs113664264 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.037 Y Tyr TAC 0.562 C Cys TGC 0.552 237 -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc010esg.1:exon5:c.A659G:p.Y220C . . . 0.5988539 . . @ 209 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 349.0 . . . . . . . . . . -0.4193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1654643 rs1654643 rs1654643 rs113664264 1 1538 10 1/0 0,210,215 +rs72489166 19 55358658 T C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358658 55358658 Chr19(GRCh37):g.55358658T>C *94630 *94630 NM_001291695.1:c.*94630T>C p.? p.? 8 604953 94774 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs72489166 yes no Frequency 1 0.000000 0 transition T C T>C 0.000 -2.700 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc010esg.1:exon5:c.T662C:p.M221T . . . 0.4092219 . . @ 142 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 347.0 . . . . . . . . . . -0.9150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.48 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs17404481 rs17404481 rs72489166 rs201149643 1 1538 10 1/0 0,200,231 +rs72489166 19 55358658 T C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution missense exon GRCh37 55358658 55358658 Chr19(GRCh37):g.55358658T>C 713 713 NM_001281971.1:c.713T>C p.Met238Thr p.Met238Thr 6 604955 20 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.990899 11.0684 0.000904998 rs72489166 yes no Frequency 1 0.000000 0 transition T C T>C 0.000 -2.700 M Met ATG 1.000 T Thr ACG 0.116 238 -1 -1 -1 0 0.71 5.VII 8.VI 105 61 81 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc010esg.1:exon5:c.T662C:p.M221T . . . 0.4092219 . . @ 142 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 347.0 . . . . . . . . . . -0.9150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.43 0.48 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.087 rs17404481 rs17404481 rs72489166 rs201149643 1 1538 10 1/0 0,200,231 +rs139340501 19 55358659 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358659 55358659 Chr19(GRCh37):g.55358659G>A *94631 *94631 NM_001291695.1:c.*94631G>A p.? p.? 8 604953 94775 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs139340501 yes no Frequency 1 0.000000 0 transition G A G>A 0.000 -0.521 231 PASS . . . . . . . . . . . UNKNOWN . . . . 0.24431819 . . @ 86 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 352.0 . . . . . . . . . . -0.3861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.36 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . rs139340501 rs139340501 1 1538 10 1/0 0,185,251 +rs139340501 19 55358659 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution missense exon GRCh37 55358659 55358659 Chr19(GRCh37):g.55358659G>A 714 714 NM_001281971.1:c.714G>A p.Met238Ile p.Met238Ile 6 604955 21 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.988216 10.339 0 rs139340501 yes no Frequency 1 0.000000 0 transition G A G>A 0.000 -0.521 M Met ATG 1.000 I Ile ATA 0.163 238 2 1 2 0 0 5.VII 5.II 105 111 10 231 PASS . . . . . . . . . . . UNKNOWN . . . . 0.24431819 . . @ 86 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 352.0 . . . . . . . . . . -0.3861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.46 0.36 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . rs139340501 rs139340501 1 1538 10 1/0 0,185,251 +rs112697729 19 55358686 A C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358686 55358686 Chr19(GRCh37):g.55358686A>C *94658 *94658 NM_001291695.1:c.*94658A>C p.? p.? 8 604953 94802 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs112697729 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 226 54 14 2 0 0 64 76 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 433 Genomes transversion A C A>C 0.000 0.690 199 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon7:c.A739C:p.I247L UNKNOWN . . 0.15692307 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 325.0 . . . . . . . . . . -0.2703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.44 0.33 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . 0.087 . . rs112697729 rs112697729 1 1538 10 1/0 0,181,255 +rs112697729 19 55358686 A C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55358686 55358686 Chr19(GRCh37):g.55358686A>C *21 *21 NM_001281971.1:c.*21A>C p.? p.? 6 604955 48 3' 93.6714 X.11 0.988216 X.71 93.6714 X.11 0.988216 XI.32 0 rs112697729 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 226 54 14 2 0 0 64 76 16 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 433 Genomes transversion A C A>C 0.000 0.690 199 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon7:c.A739C:p.I247L UNKNOWN . . 0.15692307 . . @ 51 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 325.0 . . . . . . . . . . -0.2703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.44 0.33 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . 0.087 . . rs112697729 rs112697729 1 1538 10 1/0 0,181,255 +. 19 55358734 G A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55358734 55358734 Chr19(GRCh37):g.55358734G>A *94706 *94706 NM_001291695.1:c.*94706G>A p.? p.? 8 604953 94850 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 156 8 14 4 10 46 70 2 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.974 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon7:c.G787A:p.D263N UNKNOWN . . 0.75598085 . . @ 158 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 209.0 . . . . . . . . . . -0.7375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 . 0 0 0 0 0 0 . . 0 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs1743319 rs1743319 rs1743319 rs150361840 1 1538 10 1/0 0,247,248 +. 19 55358734 G A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55358734 55358734 Chr19(GRCh37):g.55358734G>A *69 *69 NM_001281971.1:c.*69G>A p.? p.? 6 604955 -10 5' 87.5573 9.72159 0.99591 7.78155 87.5573 9.72159 0.99591 VII.43 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 156 8 14 4 10 46 70 2 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -1.974 255 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon7:c.G787A:p.D263N UNKNOWN . . 0.75598085 . . @ 158 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 209.0 . . . . . . . . . . -0.7375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.42 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 . 0 0 0 0 0 0 . . 0 0 . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs1743319 rs1743319 rs1743319 rs150361840 1 1538 10 1/0 0,247,248 +. 19 55359243 AAC A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 deletion downstream GRCh37 55359245 55359246 Chr19(GRCh37):g.55359245_55359246del *95217 *95218 NM_001291695.1:c.*95217_*95218del p.? p.? 8 604953 95361 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs138992022 no no 0 0.000000 0 CA 255 Pass . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon8:c.835_836del:p.T279fs UNKNOWN . . 0.2540193 . . . 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown frameshift_deletion unknown . . . exonic exonic exonic . . . . . . . . . . ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138992022 rs138992022 1 1538 10 1.I 0,9,60 +. 19 55359243 AAC A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 deletion 3'UTR GRCh37 55359245 55359246 Chr19(GRCh37):g.55359245_55359246del *118 *119 NM_001281971.1:c.*118_*119del p.? p.? 7 604955 -13 5' 86.8647 IX.15 0.983199 9.84992 86.8647 IX.15 0.983199 10.0099 0 rs138992022 no no 0 0.000000 0 CA 255 Pass . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon8:c.835_836del:p.T279fs UNKNOWN . . 0.2540193 . . . 79 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown frameshift_deletion unknown . . . exonic exonic exonic . . . . . . . . . . ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs138992022 rs138992022 1 1538 10 1.I 0,9,60 +rs2736416 19 55359255 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359255 55359255 Chr19(GRCh37):g.55359255C>G *95227 *95227 NM_001291695.1:c.*95227C>G p.? p.? 8 604953 95371 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs1130471 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -2.539 175 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon8:c.C846G:p.S282R UNKNOWN . . 0.10280374 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 321.0 . . . . . . . . . . -0.7278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.45 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.011 rs1130471 rs1130471 rs1130471 rs1130471 1 1538 10 1/0 0,176,255 +rs2736416 19 55359255 C G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359255 55359255 Chr19(GRCh37):g.55359255C>G *128 *128 NM_001281971.1:c.*128C>G p.? p.? 7 604955 -4 5' 86.8647 IX.15 0.983199 9.84992 86.8647 IX.15 0.93013 7.71779 -0.0179919 rs1130471 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -2.539 175 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon8:c.C846G:p.S282R UNKNOWN . . 0.10280374 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 321.0 . . . . . . . . . . -0.7278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown nonsynonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.45 0.32 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.011 rs1130471 rs1130471 rs1130471 rs1130471 1 1538 10 1/0 0,176,255 +rs62122200 19 55359272 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359272 55359272 Chr19(GRCh37):g.55359272C>G *95244 *95244 NM_001291695.1:c.*95244C>G p.? p.? 8 604953 95388 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62122200 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.9854651 . . @ 339 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 344.0 . . . . . . . . . . -0.5788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.34 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.446 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.45 rs62122200 rs62122200 rs62122200 rs146326983 1 1538 255 1.I 0,0,255 +rs62122200 19 55359272 C G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55359272 55359272 Chr19(GRCh37):g.55359272C>G *131+14 *131+14 NM_001281971.1:c.*131+14C>G p.? p.? 7 7 604955 14 5' 86.8647 IX.15 0.983199 9.84992 86.8647 IX.15 0.983199 9.74853 0 rs62122200 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.924 255 PASS . . . . . . . . . . . . . . . . 0.9854651 . . @ 339 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 344.0 . . . . . . . . . . -0.5788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.44 0.34 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.446 0.355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.45 rs62122200 rs62122200 rs62122200 rs146326983 1 1538 255 1.I 0,0,255 +rs62122201 19 55359292 C G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359292 55359292 Chr19(GRCh37):g.55359292C>G *95264 *95264 NM_001291695.1:c.*95264C>G p.? p.? 8 604953 95408 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62122201 yes no Frequency 1 0.000000 0 0.000030 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 0.000000 0.000000 0.000155 2 0 0 0 0 2 0 0 0 65964 2374 7294 2894 2118 12928 34208 2524 1624 0.500000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Exomes transversion C G C>G 0.000 0.044 230 PASS . . . . . . . . . . . . . . . . 0.2408377 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 382.0 . . . . . . . . . . -0.3255 . . . . . . . . 5.511e-05 . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.39 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.032e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs612488 rs612488 rs612488 rs200980574 1 1538 10 1/0 0,181,243 +rs62122201 19 55359292 C G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution intron GRCh37 55359292 55359292 Chr19(GRCh37):g.55359292C>G *131+34 *131+34 NM_001281971.1:c.*131+34C>G p.? p.? 7 7 604955 34 5' 86.8647 IX.15 0.983199 9.84992 86.8647 IX.15 0.983199 IX.01 0 rs62122201 yes no Frequency 1 0.000000 0 0.000030 0.000000 0.000000 0.000000 0.000000 0.000155 0.000000 0.000000 0.000000 0.000155 2 0 0 0 0 2 0 0 0 65964 2374 7294 2894 2118 12928 34208 2524 1624 0.500000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 45 Exomes transversion C G C>G 0.000 0.044 230 PASS . . . . . . . . . . . . . . . . 0.2408377 . . @ 92 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 382.0 . . . . . . . . . . -0.3255 . . . . . . . . 5.511e-05 . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.5 0.39 182 . . KIR2DS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.032e-05 0 0 0 0 0 0 0.0002 . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . rs612488 rs612488 rs612488 rs200980574 1 1538 10 1/0 0,181,243 +rs112305589 19 55359371 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359371 55359371 Chr19(GRCh37):g.55359371A>G *95343 *95343 NM_001291695.1:c.*95343A>G p.? p.? 8 604953 95487 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 New Acceptor Site 55359372 2.18232 0.004404 77.8477 rs112305589 no no 0 0.000000 0 transition A G A>G 0.000 -0.037 181 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon9:c.A864G:p.Q288Q UNKNOWN . . 0.115555555 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 450.0 . . . . . . . . . . -0.2876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown synonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.45 0.31 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.141 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . 0.14 . . rs112305589 rs112305589 1 1538 10 1/0 0,163,255 +rs112305589 19 55359371 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359371 55359371 Chr19(GRCh37):g.55359371A>G *146 *146 NM_001281971.1:c.*146A>G p.? p.? 8 604955 15 3' 90.5732 8.98866 0.980106 11.0741 90.5732 8.98866 0.978393 X.21 -0.00058259 New Acceptor Site 55359372 2.18232 0.004404 77.8477 rs112305589 no no 0 0.000000 0 transition A G A>G 0.000 -0.037 181 PASS . . . . . . . . . . . UNKNOWN KIR2DS4:uc002qhm.1:exon9:c.A864G:p.Q288Q UNKNOWN . . 0.115555555 . . @ 52 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 450.0 . . . . . . . . . . -0.2876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown synonymous_SNV unknown . . . exonic exonic exonic . . . @ . . . 0.45 0.31 182 ENSG00000221957 KIR2DS4 KIR2DS4 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . 0.141 0.130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . 0.14 . . rs112305589 rs112305589 1 1538 10 1/0 0,163,255 +rs62122202 19 55359404 T A - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359404 55359404 Chr19(GRCh37):g.55359404T>A *95376 *95376 NM_001291695.1:c.*95376T>A p.? p.? 8 604953 95520 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs62122202 no no 0 0.000000 0 transversion T A T>A 0.000 -1.328 227 PASS . . . . . . . . . . . . . . . . 0.23243243 . . @ 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 555.0 . . . . . . . . . . -0.4231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.71 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*6T>A uc002qhm.1:c.*6T>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs610020 rs610020 rs610020 rs143499771 1 1538 10 1/0 0,164,239 +rs62122202 19 55359404 T A - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359404 55359404 Chr19(GRCh37):g.55359404T>A *179 *179 NM_001281971.1:c.*179T>A p.? p.? 8 604955 48 3' 90.5732 8.98866 0.980106 11.0741 90.5732 8.98866 0.980106 11.1274 0 rs62122202 no no 0 0.000000 0 transversion T A T>A 0.000 -1.328 227 PASS . . . . . . . . . . . . . . . . 0.23243243 . . @ 129 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 555.0 . . . . . . . . . . -0.4231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.62 0.71 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*6T>A uc002qhm.1:c.*6T>A . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs610020 rs610020 rs610020 rs143499771 1 1538 10 1/0 0,164,239 +rs74623998 19 55359426 A G - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359426 55359426 Chr19(GRCh37):g.55359426A>G *95398 *95398 NM_001291695.1:c.*95398A>G p.? p.? 8 604953 95542 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 rs74623998 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136 16 6 2 0 0 100 8 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 257 Genomes transition A G A>G 0.000 -0.117 254 PASS . . . . . . . . . . . . . . . . 0.31669536 . . @ 184 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 581.0 . . . . . . . . . . -0.2863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.56 0.71 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*28A>G uc002qhm.1:c.*28A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.065 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.065 . . rs74623998 rs200936965 1 1538 10 1/0 0,170,220 +rs74623998 19 55359426 A G - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359426 55359426 Chr19(GRCh37):g.55359426A>G *201 *201 NM_001281971.1:c.*201A>G p.? p.? 8 604955 70 3' 90.5732 8.98866 0.980106 11.0741 90.5732 8.98866 0.980106 XI.92 0 rs74623998 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 136 16 6 2 0 0 100 8 4 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 257 Genomes transition A G A>G 0.000 -0.117 254 PASS . . . . . . . . . . . . . . . . 0.31669536 . . @ 184 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 581.0 . . . . . . . . . . -0.2863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . @ . . . 0.56 0.71 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*28A>G uc002qhm.1:c.*28A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.065 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 . 0 0 0 . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . 0.065 . . rs74623998 rs200936965 1 1538 10 1/0 0,170,220 +rs201527316 19 55359436 G C - KIR2DS2 6334 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 NM_001291695.1 1 1528 1017 NP_001278624.1 substitution downstream GRCh37 55359436 55359436 Chr19(GRCh37):g.55359436G>C *95408 *95408 NM_001291695.1:c.*95408G>C p.? p.? 8 604953 95552 3' 81.1819 6.57061 0.561124 1.39798 81.1819 6.57061 0.561124 1.39798 0 Cryptic Acceptor Strongly Activated 55359449 0.000639 72.1951 0.266715 0.001189 72.4856 rs139032132 no no 0 0.000000 0 transversion G C G>C 0.000 -0.037 181 PASS . . . . . . . . . . . . . . . . 0.11557789 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 597.0 . . . . . . . . . . -0.2861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0024 . . . 0.63 0.69 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*38G>C uc002qhm.1:c.*38G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs78931759 rs139032132 1 1538 10 1/0 0,150,255 +rs201527316 19 55359436 G C - KIR2DS4 6336 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NM_001281971.1 1 1608 720 NP_001268900.1 substitution 3'UTR GRCh37 55359436 55359436 Chr19(GRCh37):g.55359436G>C *211 *211 NM_001281971.1:c.*211G>C p.? p.? 8 604955 80 3' 90.5732 8.98866 0.980106 11.0741 90.5732 8.98866 0.980106 11.0391 0 Cryptic Acceptor Strongly Activated 55359449 0.000639 72.1951 0.266715 0.001189 72.4856 rs139032132 no no 0 0.000000 0 transversion G C G>C 0.000 -0.037 181 PASS . . . . . . . . . . . . . . . . 0.11557789 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 597.0 . . . . . . . . . . -0.2861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.0024 . . . 0.63 0.69 182 ENSG00000221957 KIR2DS4 KIR2DS4 ENST00000339924:c.*38G>C uc002qhm.1:c.*38G>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs78931759 rs139032132 1 1538 10 1/0 0,150,255 +rs655534 19 55363896 A C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55363896 55363896 Chr19(GRCh37):g.55363896A>C 355+159 355+159 NM_006737.3:c.355+159A>C p.? p.? 3 3 604947 159 5' 84.7886 7.40564 0.793383 6.98053 84.7886 7.40564 0.793383 6.98053 0 rs655534 yes no Frequency/HapMap 2 0.000000 0 transversion A C A>C 0.000 0.690 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . . . . . . . . . -0.2300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.16 0.05 182 . . KIR3DL2 . . . . . . 882 0.0135742 64976 881 0.0146868 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HOM . . 0.359 0.326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.36 rs655534 rs655534 rs655534 rs138595906 1 1538 255 1.I 0,0,255 +rs200984382 19 55370651 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55370651 55370651 Chr19(GRCh37):g.55370651T>C 1000+67 1000+67 NM_006737.3:c.1000+67T>C p.? p.? 6 6 604947 67 5' 87.1266 10.0978 0.986775 8.75869 87.1266 10.0978 0.986775 8.59551 0 rs200984382 no no 0 0.000000 0 transition T C T>C 0.004 -0.844 219 PASS . . . . . . . . . . . . . . . . 0.21052632 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . -0.7240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.18 182 . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . rs2295804 rs2295804 rs2295804 rs200984382 1 1538 10 1/0 0,204,255 +. 19 55377176 G C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377176 55377176 Chr19(GRCh37):g.55377176G>C 1001-84 1001-84 NM_006737.3:c.1001-84G>C p.? p.? 7 6 604947 -84 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.36965 0 Cryptic Acceptor Strongly Activated 55377193 0.000715 65.9404 0.400708 0.000794 65.9404 transversion G C G>C 0.000 -0.360 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.3942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 19 55377180 C G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377180 55377180 Chr19(GRCh37):g.55377180C>G 1001-80 1001-80 NM_006737.3:c.1001-80C>G p.? p.? 7 6 604947 -80 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.30131 0 New Acceptor Site 55377181 2.10438 0.001902 67.1573 55377179 -10.1471 transversion C G C>G 0.004 0.609 175 PASS . . . . . . . . . . . . . . . . 0.104477614 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . . . . . . . . . -0.2935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 19 55377184 T G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377184 55377184 Chr19(GRCh37):g.55377184T>G 1001-76 1001-76 NM_006737.3:c.1001-76T>G p.? p.? 7 6 604947 -76 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.45469 0 55377186 -25.7487 transversion T G T>G 0.000 -1.167 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . -0.5210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +. 19 55377188 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377188 55377188 Chr19(GRCh37):g.55377188T>C 1001-72 1001-72 NM_006737.3:c.1001-72T>C p.? p.? 7 6 604947 -72 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.14292 0 55377190 -24.7594 transition T C T>C 0.004 0.528 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . . . . . . . . . -0.2887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs73618370 19 55377225 G A - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377225 55377225 Chr19(GRCh37):g.55377225G>A 1001-35 1001-35 NM_006737.3:c.1001-35G>A p.? p.? 7 6 604947 -35 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.971014 9.54693 0 rs73618370 yes no Frequency/1000G 2 0.000000 0 transition G A G>A 0.000 0.690 230 PASS . . . . . . . . . . . . . . . . 0.24210526 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.2264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0048 . . . 0.18 0.18 182 . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs796734062 19 55377249 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377249 55377249 Chr19(GRCh37):g.55377249T>C 1001-11 1001-11 NM_006737.3:c.1001-11T>C p.? p.? 7 6 604947 -11 3' 88.7953 9.96754 0.971014 9.36965 84.9839 9.02292 0.957617 VII.24 -0.0504966 rs796734062 no no 0 0.000000 0 transition T C T>C 0.323 0.609 235 PASS . . . . . . . . . . . . . . . . 0.26041666 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.1272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +rs371490654 19 55377255 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution splice site GRCh37 55377255 55377255 Chr19(GRCh37):g.55377255T>C 1001-5 1001-5 NM_006737.3:c.1001-5T>C p.? p.? 7 6 604947 -5 3' 88.7953 9.96754 0.971014 9.36965 85.2497 9.84592 0.970786 9.42093 -0.0174555 rs371490654 yes no Frequency 1 0.000000 0 COSM5765206 Large intestine 0.000418 2392 transition T C T>C 0.740 0.609 248 PASS . . . . . . . . . . . . . . . . 0.30107528 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 93.0 . . . . . . . . . . 0.0259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.24 0.23 182 . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +rs796466301 19 55377265 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution missense exon GRCh37 55377265 55377265 Chr19(GRCh37):g.55377265T>C 1006 1006 NM_006737.3:c.1006T>C p.Cys336Arg p.Cys336Arg 7 604947 6 3' 88.7953 9.96754 0.971014 9.36965 88.7953 9.96754 0.974784 9.52675 0.00129418 Cryptic Donor Weakly Activated 55377259 7.33051 0.631159 77.1304 7.90757 0.775918 71.3518 rs796466301 no no 0 0.000000 0 COSM5765149 Large intestine 0.000418 2392 transition T C T>C 0.024 -1.086 C Cys TGC 0.552 R Arg CGC 0.190 336 7 2 Mouse -3 -3 -6 II.75 0.65 5.V 10.V 55 124 180 C0 244.82 24.82 Tolerated 0.32 III.34 239 PASS . . . . . . . . . . . . . . . . 0.27173913 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.032 . @ . . . . . 1 0.036 . . 92.0 . . . . . . . . . . -1.7288 -1.790 -1.729 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.104 @ . . . . . . . . KIR3DL2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.014 0.001 . . 37 . 0.002 . . 0.359 . . . 0.011 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.052 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.263 . . . . . . . 0.094 . HET 0.14 . . . . . . . . . . . . . . . . 0.609 -0.763 . 0.150000 . . . . . . 0.003 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.126 -1.126000 . . 0.150000 . . 1.0E-239 0.000 0.063 . 0.016 0.005 . 0.021 . 0.007 -1.126 -1.859 . . . . . 1 1538 10 1/0 0,245,255 +rs540202245 19 55377853 G C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution synonymous exon GRCh37 55377853 55377853 Chr19(GRCh37):g.55377853G>C 1134 1134 NM_006737.3:c.1134G>C p.Ala378= p.Ala378Ala 8 604947 -25 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.86443 0 rs540202245 yes no Frequency/1000G 2 0.000000 0 COSM5764755 Large intestine 0.000418 2392 transversion G C G>C 0.000 -0.440 A Ala GCG 0.107 A Ala GCC 0.403 378 255 PASS . . . . . . . . . . . . . . . . 0.36 . . @ 54 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 150.0 . . . . . . . . . . -0.2836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0004 . . . . . . . . KIR3DL2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +. 19 55377871 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution synonymous exon GRCh37 55377871 55377871 Chr19(GRCh37):g.55377871T>C 1152 1152 NM_006737.3:c.1152T>C p.Asn384= p.Asn384Asn 8 604947 -7 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.965246 9.21804 -0.00177245 rs941565211 no no 0 0.000000 0 COSM5764741 Large intestine 0.000418 2392 transition T C T>C 0.000 -2.054 N Asn AAT 0.464 N Asn AAC 0.536 384 255 PASS . . . . . . . . . . . . . . . . 0.3647059 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 170.0 . . . . . . . . . . -0.6920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 19 55377875 C G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution missense exon GRCh37 55377875 55377875 Chr19(GRCh37):g.55377875C>G 1156 1156 NM_006737.3:c.1156C>G p.Gln386Glu p.Gln386Glu 8 604947 -3 5' 89.9194 X.02 0.970406 8.75317 86.8647 IX.15 0.969702 6.99565 -0.0319516 rs973541788 no no 0 0.000000 0 COSM5764834 Large intestine 0.000418 2392 transversion C G C>G 0.000 -0.440 Q Gln CAG 0.744 E Glu GAG 0.583 386 7 2 Rat 2 2 3 0.89 0.92 10.V 12.III 85 83 29 C0 353.86 0.00 Tolerated 1 III.37 255 PASS . . . . . . . . . . . . . . . . 0.34615386 . . @ 63 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.001 . @ . . . . . 1 0.037 . . 182.0 . . . . . . . . . . -1.8234 -1.813 -1.823 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.005 . . exonic exonic exonic . . 0.073 @ . . . . . . . . KIR3DL2 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.002 0.000 . . 37 . 0.001 . . 0.331 . . . 0.010 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.026 . . 0.063 . . . . . . 0 0.010 . . . . . 0.220 . 0.018 . HET 1 . . . . . . . . . . . . . VI.41 . . 1.V -1.86 . 1.000000 . 0.0001 0.016 . . . 0.002 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.450 -0.450000 . . 1.000000 . . 1.0E-255 0.220 0.243 . 0.062 0.034 . 0.199 . 0.105 -0.450 -1.555 . . . . . 1 1538 10 1/0 0,221,255 +. 19 55377884 C T - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377884 55377884 Chr19(GRCh37):g.55377884C>T 1158+7 1158+7 NM_006737.3:c.1158+7C>T p.? p.? 8 8 604947 7 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.926641 8.13373 -0.0150332 rs920394404 no no 0 0.000000 0 COSM2885924 Large intestine 0.000418 2392 transition C T C>T 0.004 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.35751295 . . @ 69 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 193.0 . . . . . . . . . . -0.4052 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs779927406 19 55377891 G A - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377891 55377891 Chr19(GRCh37):g.55377891G>A 1158+14 1158+14 NM_006737.3:c.1158+14G>A p.? p.? 8 8 604947 14 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.43782 0 rs779927406 yes no Frequency 1 0.000000 0 0.000022 0.000042 0.000029 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 0.000042 6 1 1 0 0 0 4 0 0 277110 24020 34418 10150 18868 30782 126648 25764 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 1 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.35106382 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . -0.6692 . . . . . . . . 3.947e-05 . . . 9.628e-05 3.306e-05 8.646e-05 0 0 2.373e-05 0 0 0.0001 1.883e-05 8.916e-05 0 0 0 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.535e-05 2.031e-05 2.978e-05 0 0 0 2.686e-05 0 0 0 3.238e-05 0 0 0 0 6.69e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +rs748219676 19 55377903 C T - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377903 55377903 Chr19(GRCh37):g.55377903C>T 1158+26 1158+26 NM_006737.3:c.1158+26C>T p.? p.? 8 8 604947 26 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.93851 0 rs748219676 yes no Frequency 1 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000058 0.000065 0.000000 0.000000 0.000000 0.000065 3 0 0 0 1 2 0 0 0 246228 15304 33578 9850 17248 30782 111698 22282 5486 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 PASS 100 Exomes transition C T C>T 0.000 -0.763 253 PASS . . . . . . . . . . . . . . . . 0.31443298 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 194.0 . . . . . . . . . . -0.5193 . . . . . . . . 2.368e-05 . . . 0 2.204e-05 0 0 0 0 0 0.0001 0 1.883e-05 0 0 0 0 0 0.0001 . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.218e-05 0 0 5.798e-05 0 0 0 6.497e-05 . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +. 19 55377908 A T - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377908 55377908 Chr19(GRCh37):g.55377908A>T 1158+31 1158+31 NM_006737.3:c.1158+31A>T p.? p.? 8 8 604947 31 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.91681 0 Cryptic Acceptor Weakly Activated 55377927 IV.25 0.283779 76.078 4.64321 0.348629 76.078 transversion A T A>T 0.000 -2.377 251 PASS . . . . . . . . . . . . . . . . 0.30851063 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 188.0 . . . . . . . . . . -0.9076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +. 19 55377909 C G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377909 55377909 Chr19(GRCh37):g.55377909C>G 1158+32 1158+32 NM_006737.3:c.1158+32C>G p.? p.? 8 8 604947 32 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.91298 0 transversion C G C>G 0.000 -3.588 249 PASS . . . . . . . . . . . . . . . . 0.30208334 . . @ 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 192.0 . . . . . . . . . . -1.1564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +. 19 55377915 T C - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377915 55377915 Chr19(GRCh37):g.55377915T>C 1158+38 1158+38 NM_006737.3:c.1158+38T>C p.? p.? 8 8 604947 38 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.98974 0 rs906419071 no no 0 0.000000 0 transition T C T>C 0.000 -0.440 242 PASS . . . . . . . . . . . . . . . . 0.28061223 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 196.0 . . . . . . . . . . -0.4353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,213,255 +. 19 55377916 A AT - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 duplication intron GRCh37 55377917 55377918 Chr19(GRCh37):g.55377917dup 1158+40 1158+40 NM_006737.3:c.1158+40dup p.? p.? 8 8 604947 40 5' 89.9194 X.02 0.970406 8.75317 89.9194 X.02 0.970406 8.01688 0 Cryptic Acceptor Strongly Activated 55377927 IV.25 0.283779 76.078 6.21876 0.590577 79.291 T 255 Pass . . . . . . . . . . . . . . . . 0.27669904 . . . 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 206 . . . . . . . . . . . . . . . . . . . 7.893e-06 . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,56 +rs140252782 19 55377929 C T - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377929 55377929 Chr19(GRCh37):g.55377929C>T 1159-48 1159-48 NM_006737.3:c.1159-48C>T p.? p.? 9 8 604947 -48 3' 90.5732 9.36118 0.982185 XI.11 90.5732 9.36118 0.982185 XI.53 0 55377932 -13.8503 rs140252782 no no 0 0.000000 0 transition C T C>T 0.000 0.044 254 PASS . . . . . . . . . . . . . . . . 0.31658292 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 199.0 . . . . . . . . . . -0.2812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.11 0.25 182 . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-254 . . . . . . . . . . . . . . rs140252782 rs140252782 1 1538 10 1/0 0,217,255 +. 19 55377934 A G - KIR3DL2 6339 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NM_006737.3 1 1885 1368 NP_006728.2 P43630 substitution intron GRCh37 55377934 55377934 Chr19(GRCh37):g.55377934A>G 1159-43 1159-43 NM_006737.3:c.1159-43A>G p.? p.? 9 8 604947 -43 3' 90.5732 9.36118 0.982185 XI.11 90.5732 9.36118 0.982185 11.764 0 rs1054856092 no no 0 0.000000 0 transition A G A>G 0.000 -0.602 251 PASS . . . . . . . . . . . . . . . . 0.30964467 . . @ 61 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 197.0 . . . . . . . . . . -0.4802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . . . KIR3DL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs775896 19 55488180 C T - NLRP2 22948 NLR family pyrin domain containing 2 NM_001174081.2 1 3549 3189 NP_001167552.1 Q9NX02 substitution intron GRCh37 55488180 55488180 Chr19(GRCh37):g.55488180C>T 326-940 326-940 NM_001174081.2:c.326-940C>T p.? p.? 4 3 609364 -940 3' 93.5929 X.83 0.977913 9.66098 93.5929 X.83 0.977913 9.66098 0 rs775896 yes no Frequency/1000G 2 0.000000 0 transition C T C>T 0.016 -0.682 255 PASS 0.5 0.47 0.6 0.34 0.48 . . . . . . . . . . . 0.6875 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.5401 . . . . . . . . . . . . 0.45 0.3124 0.5 0 . 0.3679 0.3077 0.2894 0.45 0.3096 0.5 0.0417 . 0.3689 0.3077 0.2894 . . . . . . intronic intronic intronic . . . @ . . . 0.13 0.08 182 ENSG00000022556 NLRP2 NLRP2 . . . . . . 482 0.00741812 64976 404 0.0067349 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.370 0.384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.6 . . rs775896 rs775896 1 1538 10 1/0 0,255,255 +. 19 55488180 C CTT - NLRP2 22948 NLR family pyrin domain containing 2 NM_001174081.2 1 3549 3189 NP_001167552.1 Q9NX02 duplication intron GRCh37 55488197 55488198 Chr19(GRCh37):g.55488196_55488197dup 326-924 326-923 NM_001174081.2:c.326-924_326-923dup p.? p.? 4 3 609364 -922 3' 93.5929 X.83 0.977913 9.66098 93.5929 X.83 0.977913 9.66098 0 TT 255 Pass . . . . . . . . . . . . . . . . 0.29268292 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 41 . . . . . . . . . . . . . . . . . . . . . . . 0 0.0064 0 0 . 0.0041 0 0.0075 0 0.0083 0 0.1667 . 0.0041 0 0.0075 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000022556 NLRP2 NLRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,53 +rs1654457 19 55574429 A C - RDH13 19978 Retinol dehydrogenase 13 (all-trans/9-cis) NM_001145971.1 -1 1931 996 NP_001139443.1 Q8NBN7 substitution 5'UTR GRCh37 55574429 55574429 Chr19(GRCh37):g.55574429A>C -29 -29 NM_001145971.1:c.-29T>G p.? p.? 1 -94 5' 83.5016 9.09532 0.985646 XI.68 83.5016 9.09532 0.985646 XI.68 0 rs1654457 yes no Frequency 1 A 0.000000 0 0.004089 0.016883 0.002176 0.000000 0.000000 0.000836 0.000707 0.000210 0.000795 0.016883 173 151 4 0 0 2 14 1 1 42310 8944 1838 1254 2064 2392 19790 4770 1258 0.000095 0.000447 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 2 0 0 0 0 0 0 0 855 44 154 7 381 43 167 43 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.037 175 PASS . . . . . . . . . . . . . . . . 0.10344828 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 87.0 . . . . . . . . . . 0.6342 . . . . . . . . 1.991e-03 . . . 0.0210 0.0025 0 0 0 0.0022 0 0 0.0312 0.0025 0 0 0 0.0018 0 0 . . . . . . UTR5 ncRNA_exonic UTR5 . . . @ . . . 0.24 0.34 182 ENSG00000160439 AK122764 RDH13 . . NM_001145971:c.-29T>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . 0.109 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0275 0.0017 0.0010 0 0 0 0.0014 0 0.0008 0.0164 0.0051 0.0037 0 0 0.0003 0.0004 0.0011 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . 0.11 rs1654457 rs1654457 rs1654457 rs1654457 1 1538 10 1/0 0,232,255 +rs138664823 19 55645419 G A - TNNT1 11948 Troponin T1, slow skeletal type NM_003283.5 -1 1259 837 NP_003274.3 P13805 substitution intron GRCh37 55645419 55645419 Chr19(GRCh37):g.55645419G>A 750+15 750+15 NM_003283.5:c.750+15C>T p.? p.? 12 12 191041 15 5' 87.2541 7.65636 0.993659 14.791 87.2541 7.65636 0.993659 14.5696 0 rs138664823 yes no Frequency/1000G 2 uncertain_significance,likely_benign 0.000000 0 0.000399 0.001500 0.000000 0.000000 0.000000 0.000000 0.000879 0.000295 0.000760 0.000000 0.000000 0.000066 0.001495 0.000078 0.002655 0.001495 241 7 26 0 0 2 187 2 17 274272 23730 34216 10040 18794 30490 125098 25500 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 241 7 26 0 0 2 187 2 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8590 4403 12993 10 1 11 0.00116279 0.000227066 0.000845894 0.00116279 0.000227066 0.000845894 33 RCV000350860.1|RCV000437985.1 germline|germline clinical testing|clinical testing VUS|Likely benign 1|1 Nemaline Myopathy, Recessive|not specified transition C T C>T 0.000 -0.117 255 PASS 0.002 0.0009 . . 0.0013 0.0015 0.0004 . . . . . . . . . 0.60194176 . . germline 62 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . Uncertain//\@significance Uncertain_significance RCV000350860.1 . MedGen CN239479 2 . . . 103.0 . . . 0.0002 0.0008 0.0012 0.0002 0.0008 0.0012 . -0.0171 . . . . . . . . 7.661e-04 . . . 0.0003 0.0008 0.0022 0 0 0.0011 0.0016 0 0.0004 0.0008 0.0023 0 0 0.0010 0.0017 0 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.43 0.34 182 ENSG00000105048 TNNT1 TNNT1 . . . . . . 68 0.00104654 64976 66 0.00110026 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138664823 . . . . . . . . . . . . . . . . . . . . . . . 0.000846 . . . . . 0.0003 0.0009 0.0008 0 0 9.088e-05 0.0015 0.0031 6.56e-05 0.0003 0.0007 0 0 0 0 0.0013 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.002 . . rs138664823 rs138664823 1 1538 10 1/0 0,255,255 +rs35651406 19 56011279 C T - SSC5D 26641 Scavenger receptor cysteine rich domain containing (5 domains) NM_001144950.1 1 4910 4722 NP_001138422.1 A1L4H1 substitution missense exon GRCh37 56011279 56011279 Chr19(GRCh37):g.56011279C>T 1802 1802 NM_001144950.1:c.1802C>T p.Ala601Val p.Ala601Val 10 97 3' 86.1909 11.1175 0.926703 X.73 86.1909 11.1175 0.926703 X.73 0 rs35651406 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.004575 0.002075 0.000807 0.000117 0.000000 0.000000 0.008836 0.005739 0.003678 0.008836 836 34 20 1 0 0 647 116 18 182726 16386 24794 8540 11856 22822 73222 20212 4894 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 1 0 0 0 0 0 1 0 0 834 34 20 1 0 0 645 116 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3157 1383 4540 25 1 26 0.00785669 0.000722543 0.00569426 0.00785669 0.000722543 0.00569426 88 transition C T C>T 0.087 -0.117 A Ala GCC 0.403 V Val GTC 0.240 601 11 6 Cape rock hyrax 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.11 IV.32 good 5.531E-1 0.07068 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.5441176 . . @ 37 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.123 . @ . . . . . 1 0.210 . . 68.0 . . . 0.0007 0.0057 0.0079 0.0007 0.0057 0.0079 . -1.5006 -1.502 -1.501 c . . . . . 3.767e-03 . . . 0.0009 0.0035 0 0 0 0.0080 0 0 0 0.0025 0 0 0.0055 0.0064 0.0056 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.016 . . exonic exonic exonic . . 0.052 0.0006 . . . 0.13 0.32 182 ENSG00000179954 SSC5D SSC5D . . . 0.050 0.148 . 501 0.00771054 64976 498 0.00830194 59986 Likely_benign . 0 . . . . . . T 0.093 0.004 . . 37 . 0.009 . . 0.475 . . . 0.170 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.185 . . 0 0 0 0 0 0 . 0.119 . . 0.112 . . . . . . 0 0.367 . . . . . 0.156 . 0.049 . HET 0 rs35651406 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 V.95 0.0 . 5.IV -2.96 . 0.550000 A1L4H1 . . . 0.005694 . 0.087 . . . 0.0016 0.0046 0.0008 0.0001 0 0.0059 0.0094 0.0028 0 0.0025 0.0047 0.0012 0 0 0.0049 0.0065 0.0071 . . 0.283 . -0.598 -0.598000 . . 0.550000 . . 1.0E-255 0.000 0.063 . 0.204 0.042 . 0.042 . 0.043 -0.598 0.871 0.0079 rs35651406 rs35651406 rs35651406 rs35651406 1 1538 10 1/0 0,255,255 +rs199710418 19 56312981 G A - NLRP11 22945 NLR family, pyrin domain containing 11 NM_145007.3 -1 4041 3102 NP_659444.2 P59045 substitution missense exon GRCh37 56312981 56312981 Chr19(GRCh37):g.56312981G>A 2128 2128 NM_145007.3:c.2128C>T p.His710Tyr p.His710Tyr 7 609664 -44 5' 92.583 10.0326 0.991256 6.80785 92.583 10.0326 0.991256 6.22916 0 rs199710418 yes no Frequency 1 G 0.000000 0 0.000108 0.000000 0.000000 0.000000 0.000000 0.000000 0.000213 0.000039 0.000309 0.000213 30 0 0 0 0 0 27 1 2 277192 24034 34420 10152 18870 30782 126676 25794 6464 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 27 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 143 transition C T C>T 0.307 1.497 H His CAT 0.413 Y Tyr TAT 0.438 710 12 4 Rabbit 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C0 353.86 0.00 Tolerated 1 II.89 bad 4.766E-3 0.005259 255 PASS . . . . . . . . . . . . . . . . 0.4722222 . . @ 34 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.114 . @ . . . . . 1 0.017 . . 72.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.6289 -0.718 -0.629 c . . . . . 1.263e-04 . . . 0 9.921e-05 0 0 0 0.0002 0 0 0 0.0001 0 0 0.0002 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.134 . . exonic exonic exonic . . 0.262 @ . . . 0.41 0.42 182 ENSG00000179873 NLRP11 NLRP11 . . . 0.111 0.166 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.089 0.004 . . 37 . 0.107 . . 0.257 . . . 0.133 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.342 . . 0.370 . . . . . . 0 . . . . . . 0.280 . 0.347 . HET 0.23 rs199710418 . . . . . . . . . . . . VII.56 0.0 . 2.XI 2.XI . 0.040000 . . . . 0.000077 . 0.118 . . 2.XI 0 0.0001 0 0 0 4.484e-05 0.0002 0.0002 0 0 0.0002 0 0 0 0 0.0003 0.0010 . . 0.175 . 1.470 1.470000 . . 0.040000 . . 1.0E-255 0.027 0.200 . 0.163 0.040 . 0.163 . 0.294 1.470 0.150 0.0001 . . rs199710418 rs199710418 1 1538 10 1/0 0,255,255 +. 19 56904509 T TAA - ZNF582 26421 Zinc finger protein 582 NM_001320371.1 -1 3128 1647 NP_001307300.1 duplication intron GRCh37 56904509 56904510 Chr19(GRCh37):g.56904510_56904511dup 13+78 13+79 NM_001320371.1:c.13+78_13+79dup p.? p.? 1 1 615600 79 5' 81.429 5.557 0.873063 3.01054 81.429 5.557 0.873063 3.05656 0 0.005981 0.014586 0.003534 0.000000 0.011524 0.000000 0.000734 0.004021 0.000000 0.014586 146 111 2 0 18 0 9 6 0 24410 7610 566 250 1562 0 12264 1492 666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4115 1667 75 16 632 0 1538 82 105 0 0 0 0 0 0 0 0 0 PASS 38 Genomes TT 255 Pass . . . . . . . . . . . . . . . . 0.375 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000018869 ZNF582 ZNF582 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv912516 . . . . . . . . . . . . . . . 0.0146 0.0060 0.0035 0 0.0115 0.0040 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,43 +. 19 56904509 T TAA - ZNF582-AS1 25213 ZNF582 antisense RNA 1 (head to head) NR_037160.1 1 1673 0 duplication upstream GRCh37 56904522 56904523 Chr19(GRCh37):g.56904521_56904522dup -524 -523 NR_037160.1:n.-524_-523dup p.? p.? 1 -900 5' 78.7929 5.44927 0.862505 0 78.7929 5.44927 0.862505 0 0 0.005981 0.014586 0.003534 0.000000 0.011524 0.000000 0.000734 0.004021 0.000000 0.014586 146 111 2 0 18 0 9 6 0 24410 7610 566 250 1562 0 12264 1492 666 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4115 1667 75 16 632 0 1538 82 105 0 0 0 0 0 0 0 0 0 PASS 38 Genomes AA 255 Pass . . . . . . . . . . . . . . . . 0.375 . . . 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000018869 ZNF582 ZNF582 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv912516 . . . . . . . . . . . . . . . 0.0146 0.0060 0.0035 0 0.0115 0.0040 0.0007 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,43 +rs189415202 19 57176624 A G - ZNF835 34332 Zinc finger protein 835 NM_001005850.2 -1 2774 1614 NP_001005850.2 Q9Y2P0 substitution intron GRCh37 57176624 57176624 Chr19(GRCh37):g.57176624A>G -58 -58 NM_001005850.2:c.-47-11T>C p.? p.? 2 1 -11 3' 95.6911 11.136 0.994316 14.9963 92.5944 X.61 0.993103 14.1272 -0.034838 rs189415202 yes no Frequency/1000G 2 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.004000 0.011500 0.002876 0.000470 0.002875 0.001113 0.000167 0.002183 0.004131 0.001619 0.005660 0.004131 761 11 91 11 3 63 509 38 35 264648 23400 31654 9880 17986 28864 123212 23468 6184 0.000030 0.000000 0.000063 0.000000 0.000000 0.000000 0.000032 0.000000 0.000323 4 0 1 0 0 0 2 0 1 753 11 89 11 3 63 505 38 33 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8180 3741 11921 20 1 21 0.00243902 0.000267237 0.0017585 0.00243902 0.000267237 0.0017585 26 transition T C T>C 0.000 -0.521 255 PASS . 0.0032 0.01 . 0.0026 . 0.0024 0.011 . 0.004 . . . . . . 0.5555556 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 81.0 . . INTRON(MODIFIER||||ZNF835|mRNA|CODING|NM_001005850|) 0.0003 0.0018 0.0024 0.0003 0.0018 0.0024 . -0.1896 . . . . . . . . 3.264e-03 . . . 0.0003 0.0033 0.0027 0.0002 0.0019 0.0049 0.0015 0.0027 0.0004 0.0033 0.0028 0.0001 0.0017 0.0047 0.0030 0.0027 . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.22 0.12 182 ENSG00000127903 ZNF835 ZNF835 . . . . . . 205 0.00315501 64976 193 0.00321742 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189415202 . . . . . . . . . . . . . . . . . . . . 0 0.022 Name\x3dnsv912521 0.001758 . . . . . 0.0003 0.0030 0.0029 0.0011 0.0002 0.0015 0.0043 0.0065 0.0022 0.0008 0.0020 0.0024 0 0 0.0026 0.0029 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs189415202 rs189415202 1 1538 10 1/0 0,255,255 +rs149822437 19 57335015 C T - PEG3 8826 Paternally expressed 3 NM_001146186.1 -1 8716 4767 NP_001139658.1 Q9GZU2 substitution missense exon GRCh37 57335015 57335015 Chr19(GRCh37):g.57335015C>T 427 427 NM_001146186.1:c.427G>A p.Asp143Asn p.Asp143Asn 2 601483 33 3' 72.8903 5.1644 0.360449 7.71101 72.8903 5.1644 0.360449 7.36857 0 Transcription regulator SCAN rs149822437 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000000 0.001000 0.000000 0.006000 0.010100 0.002093 0.000167 0.001947 0.000493 0.000000 0.000065 0.002833 0.005002 0.002481 0.005002 575 4 67 5 0 2 352 129 16 274706 24014 34420 10144 18870 30782 124238 25790 6448 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 573 4 67 5 0 2 350 129 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8588 4402 12990 12 4 16 0.00139535 0.000907853 0.0012302 0.00139535 0.000907853 0.0012302 253 transition G A G>A 0.055 0.205 D Asp GAC 0.539 N Asn AAC 0.536 143 10 7 Rabbit 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 221.85 2.III Tolerated 0.11 IV.32 good 7.594E-1 0.01106 255 PASS . 0.0018 0.01 . 0.0026 . 0.0028 0.01 . 0.006 0.001 . . . . . 0.47311828 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.533 . @ . . . . . 1 0.766 . . 93.0 . . . 0.0009 0.0012 0.0014 0.0009 0.0012 0.0014 . -0.7684 -0.849 -0.768 c . . . . . 2.084e-03 . . . 0.0003 0.0017 0.0021 0 0.0084 0.0022 0.0014 6.06e-05 0.0003 0.0020 0.0021 0 0.0065 0.0026 0.0029 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.054 . . exonic exonic exonic . . 0.182 0.0028 . . . 0.21 0.22 182 . . . . . . 0.191 0.180 . 94 0.00144669 64976 80 0.00133364 59986 Likely_benign . 0 . 0.139 . . . . . . . . . 37 . 0.022 . . 0.372 . . . 0.339 . . . . . 1 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.432 . . 0.303 . . . . . . 0 0.165 . . . . . 0.120 . 0.015 . HET 0 rs149822437 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 IV.39 5.35E-4 . IV.29 0.88 . 0.000000 . . . Name\x3dnsv833884 0.001230 . 0.079 . . . 0.0002 0.0021 0.0019 0.0005 0 0.0051 0.0028 0.0027 6.497e-05 0.0001 0.0021 0.0036 0 0 0.0043 0.0030 0.0010 . . 0.133 . 0.224 0.224000 . . 0.000000 . . 1.0E-255 0.001 0.137 . 0.183 0.344 . 0.211 . 0.171 0.224 -0.233 0.01 . . rs149822437 rs149822437 1 1538 10 1/0 0,255,255 +rs149822437 19 57335015 C T - ZIM2 12875 Zinc finger, imprinted 2 NM_001146326.1 -1 2181 1584 NP_001139798.1 Q9NZV7 substitution missense exon GRCh37 57335015 57335015 Chr19(GRCh37):g.57335015C>T 49 49 NM_001146326.1:c.49G>A p.Asp17Asn p.Asp17Asn 5 33 3' 72.8903 5.1644 0.360449 7.71101 72.8903 5.1644 0.360449 7.36857 0 rs149822437 yes no Frequency/1000G 2 C 0.000000 0 0.002796 0.000000 0.001000 0.000000 0.006000 0.010100 0.002093 0.000167 0.001947 0.000493 0.000000 0.000065 0.002833 0.005002 0.002481 0.005002 575 4 67 5 0 2 352 129 16 274706 24014 34420 10144 18870 30782 124238 25790 6448 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 573 4 67 5 0 2 350 129 16 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8588 4402 12990 12 4 16 0.00139535 0.000907853 0.0012302 0.00139535 0.000907853 0.0012302 253 transition G A G>A 0.055 0.205 D Asp GAC 0.539 N Asn AAC 0.536 17 11 3 Domestic ferret 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.46 III.42 good 5.208E-1 0.006696 255 PASS . 0.0018 0.01 . 0.0026 . 0.0028 0.01 . 0.006 0.001 . . . . . 0.47311828 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.533 . @ . . . . . 1 0.766 . . 93.0 . . . 0.0009 0.0012 0.0014 0.0009 0.0012 0.0014 . -0.7684 -0.849 -0.768 c . . . . . 2.084e-03 . . . 0.0003 0.0017 0.0021 0 0.0084 0.0022 0.0014 6.06e-05 0.0003 0.0020 0.0021 0 0.0065 0.0026 0.0029 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.054 . . exonic exonic exonic . . 0.182 0.0028 . . . 0.21 0.22 182 . . . . . . 0.191 0.180 . 94 0.00144669 64976 80 0.00133364 59986 Likely_benign . 0 . 0.139 . . . . . . . . . 37 . 0.022 . . 0.372 . . . 0.339 . . . . . 1 0 0 0 0 0 0 0 0 0 0 0.158 . . 0 0 0 0 0 0 . 0.432 . . 0.303 . . . . . . 0 0.165 . . . . . 0.120 . 0.015 . HET 0 rs149822437 . . . . . . . 0.0018315018315018315 0.0 0.0055248618784530384 0.0 0.002638522427440633 IV.39 5.35E-4 . IV.29 0.88 . 0.000000 . . . Name\x3dnsv833884 0.001230 . 0.079 . . . 0.0002 0.0021 0.0019 0.0005 0 0.0051 0.0028 0.0027 6.497e-05 0.0001 0.0021 0.0036 0 0 0.0043 0.0030 0.0010 . . 0.133 . 0.224 0.224000 . . 0.000000 . . 1.0E-255 0.001 0.137 . 0.183 0.344 . 0.211 . 0.171 0.224 -0.233 0.01 . . rs149822437 rs149822437 1 1538 10 1/0 0,255,255 +rs756247137 19 58018347 G A - ZNF773 30487 Zinc finger protein 773 NM_198542.2 1 2361 1329 NP_940944.1 Q6PK81 substitution missense exon GRCh37 58018347 58018347 Chr19(GRCh37):g.58018347G>A 884 884 NM_198542.2:c.884G>A p.Arg295Lys p.Arg295Lys 4 622 3' 96.7028 X.17 0.992115 XII.71 96.7028 X.17 0.992115 XII.71 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs756247137 yes no Frequency 1 G 0.000000 0 0.000018 0.000042 0.000000 0.000000 0.000000 0.000032 0.000024 0.000000 0.000000 0.000042 5 1 0 0 0 1 3 0 0 277198 24024 34420 10152 18856 30778 126708 25792 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6303403 Liver 0.000422 2371 transition G A G>A 0.134 0.690 R Arg AGA 0.205 K Lys AAA 0.425 295 11 11 Cow 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C25 0.00 26.00 Deleterious 0 III.67 175 PASS . . . . . . . . . . . . . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.284 . @ . . . . . 1 0.239 . . 67.0 . . . . . . . . . . -0.8291 -0.827 -0.829 c . . . . . 4.736e-05 . . . 9.628e-05 5.51e-05 0 0.0004 0 2.373e-05 0 6.06e-05 0.0001 4.708e-05 0 0.0003 0 1.84e-05 0 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.022 . . exonic exonic exonic . . 0.203 @ . . . 0.3 0.29 182 ENSG00000152439 ZNF773 ZNF773 . . . 0.039 0.144 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.007 0.001 . . 37 . 0.019 . . 0.441 . . . 0.136 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.293 . . 0 0 0 0 0 0 . 0.151 . . 0.139 . . . . . . 3 0.096 . . . . . 0.219 . 0.182 . LowAF 0.38 rs756247137 . . . . . . . . . . . . 6.628 . ENST00000282292 I.24 I.24 . 0.150000 . . . . . . 0.131 . . . 6.536e-05 2.031e-05 0 0 0 0 2.686e-05 0 3.249e-05 0 0 0 0 0 0 0 0 . . 0.730 . 0.987 0.987000 . . 0.150000 . . 1.0E-175 0.000 0.063 . 0.468 0.672 . 0.021 . 0.085 0.987 -0.084 . rs61731276 rs61731276 rs61731276 rs61731276 1 1538 10 1/0 0,244,255 +rs143154031 19 58187958 G A - ZSCAN4 23709 Zinc finger and SCAN domain containing 4 NM_152677.2 1 2246 1302 NP_689890.1 Q8NAM6 substitution intron GRCh37 58187958 58187958 Chr19(GRCh37):g.58187958G>A 396+49 396+49 NM_152677.2:c.396+49G>A p.? p.? 3 3 613419 49 5' 70.8625 5.79242 0.826445 II.72 70.8625 5.79242 0.826445 1.99348 0 rs143154031 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000000 0.000000 0.000000 0.006000 0.001400 0.003128 0.000516 0.001327 0.008427 0.000000 0.001654 0.005041 0.000995 0.003704 0.008427 689 12 32 42 0 30 533 22 18 220284 23248 24112 4984 17094 18140 105740 22106 4860 0.000027 0.000000 0.000000 0.000401 0.000000 0.000000 0.000038 0.000000 0.000000 3 0 0 1 0 0 2 0 0 683 12 32 40 0 30 529 22 18 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8550 4382 12932 40 6 46 0.00465658 0.00136737 0.00354446 0.00465658 0.00136737 0.00354446 37 transition G A G>A 0.000 -1.812 255 PASS 0.002 0.0027 . . 0.01 . 0.0014 0.0014 . 0.006 . . . . . . 0.578125 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . INTRON(MODIFIER||||ZSCAN4|mRNA|CODING|NM_152677|) 0.0014 0.0035 0.0047 0.0014 0.0035 0.0047 . -0.4854 . . . . . . . . 2.871e-03 . . . 0.0008 0.0031 0.0010 0 0.0011 0.0052 0.0049 0.0014 0.0008 0.0027 0.0010 0 0.0012 0.0043 0.0034 0.0013 . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.52 0.5 182 ENSG00000180532 ZSCAN4 ZSCAN4 . . . . . . 265 0.00407843 64976 259 0.00431767 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143154031 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv912528 0.003544 . . . . . 0.0007 0.0030 0.0013 0.0085 0 0.0009 0.0048 0.0036 0.0017 0.0002 0.0037 0.0024 0.0066 0 0.0017 0.0065 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs143154031 rs143154031 1 1538 10 1/0 0,255,255 +. 19 58281364 G A - ZNF586 25949 Zinc finger protein 586 NM_017652.3 1 2220 1209 NP_060122.2 Q9NXT0 substitution intron GRCh37 58281364 58281364 Chr19(GRCh37):g.58281364G>A 36+118 36+118 NM_017652.3:c.36+118G>A p.? p.? 1 1 118 5' 89.8591 9.60237 0.987509 14.4513 89.8591 9.60237 0.987509 14.4513 0 rs951592740 yes no Frequency 1 G 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30746 8676 836 302 1622 0 14852 3478 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 35 Genomes transition G A G>A 0.024 0.367 255 PASS . . . . . . . . . . . . . . . . 0.44 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . I.91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000083828 . ZNF586 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.252e-05 0 0 0 0 6.733e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62129163 19 58320385 C T - ZNF552 26135 Zinc finger protein 552 NM_024762.3 -1 2352 1224 NP_079038.2 Q9H707 substitution missense exon GRCh37 58320385 58320385 Chr19(GRCh37):g.58320385C>T 247 247 NM_024762.3:c.247G>A p.Ala83Thr p.Ala83Thr 3 87 3' 97.1051 9.25055 0.99371 8.42581 97.1051 9.25055 0.99371 8.42581 0 Cryptic Acceptor Strongly Activated 58320381 1.15301 0.257005 78.5071 1.33457 0.332115 78.5071 Krueppel-associated box rs62129163 yes no Frequency 1 C 0.000000 0 0.000392 0.002760 0.000041 0.000000 0.000066 0.000313 0.000180 0.000000 0.000215 0.002760 75 51 1 0 1 6 15 0 1 191172 18480 24432 5222 15256 19196 83270 20662 4654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 75 51 1 0 1 6 15 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM2973159|COSM2973159 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.001133 747|3530 transition G A G>A 0.000 0.286 A Ala GCA 0.226 T Thr ACA 0.280 83 11 7 Horse 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 227.53 0.00 Tolerated 0.35 III.45 bad 1.194E-5 2.111E-5 229 PASS . . . . . . . . . . . ENSG00000178935:ENST00000391701:exon3:c.G247A:p.A83T . ZNF552:NM_024762:exon3:c.G247A:p.A83T . . 0.24074075 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.101 . @ . . . . . 1 0.121 . . 108.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A83T|ZNF552|mRNA|CODING|NM_024762|NM_024762.ex.3) . . . . . . . -1.3785 -1.459 -1.379 c . . . . . 3.721e-04 . . . 0.0119 0.0018 0.0023 0 0 0.0002 0 0.0003 0.0130 0.0015 0.0017 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.052 . . exonic exonic exonic . . 0.128 @ . . . 0.31 0.28 182 ENSG00000178935 ZNF552 ZNF552 . . . 0.086 0.160 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.029 . . 0.473 . . . 0.098 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.204 . . 0 0 0 0 0 0 . 0.230 . . 0.198 . . . . . . 0 0.166 . . . . . 0.061 . 0.047 . HET 0.23 rs62129163 . . . . . . . . . . . . 3.1796 0.002166 ENST00000391701 0.982 -0.117 . 0.510000 . . . . . . 0.014 . . . 0.0034 0.0003 0 0 7.32e-05 0 0.0002 0.0003 0.0003 0.0020 0.0007 0.0012 0 0 0 0.0002 0 . . 0.522 . -0.022 -0.022000 . . 0.510000 . . 1.0E-229 0.000 0.063 . 0.108 0.024 . 0.004 . 0.272 -0.022 0.143 . rs62129163 rs62129163 rs62129163 rs62129163 1 1538 10 1/0 0,236,255 +rs544337361 19 58386508 C T - ZNF814 33258 Zinc finger protein 814 NM_001144989.1 -1 6283 2568 NP_001138461.1 B7Z6K7 substitution missense exon GRCh37 58386508 58386508 Chr19(GRCh37):g.58386508C>T 250 250 NM_001144989.1:c.250G>A p.Ala84Thr p.Ala84Thr 3 87 3' 97.1051 9.25055 0.99371 8.42581 97.1051 9.25055 0.99371 8.42581 0 Cryptic Acceptor Strongly Activated 58386504 1.15301 0.257005 78.5071 1.33457 0.332115 78.5071 Krueppel-associated box rs544337361 yes no Frequency/1000G 2 0.000000 0 0.017971 0.053000 0.002000 0.009900 0.003000 0.007200 0.000553 0.002605 0.000482 0.000000 0.000988 0.000371 0.000234 0.000000 0.000000 0.002605 93 46 10 0 14 6 17 0 0 168270 17656 20740 4028 14172 16172 72606 18812 4084 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 93 46 10 0 14 6 17 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.924 A Ala GCA 0.226 T Thr ACA 0.280 84 12 3 Pig 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 353.86 0.00 Tolerated 0.22 3.I unknown 0.0 0.0 215 PASS . . . . . 0.053 0.018 0.0072 0.0099 0.003 0.002 ENSG00000204514:ENST00000435989:exon3:c.G250A:p.A84T ZNF814:uc002qqo.2:exon3:c.G250A:p.A84T ZNF814:NM_001144989:exon3:c.G250A:p.A84T . . 0.19827586 . . @ 23 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.021 . @ . . . . . 1 0.103 . . 116.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A84T|ZNF814|mRNA|CODING|NM_001144989|NM_001144989.ex.3) . . . . . . . -1.5584 -1.676 -1.558 c . . . . . 4.441e-04 . . . 0.0053 0.0017 0 0.0043 0 0.0008 0 0.0009 0.0068 0.0018 0 0.0030 0 0.0015 0 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.074 . . exonic exonic exonic . . 0.031 0.0180 . . . 0.16 0.31 182 ENSG00000204514 ZNF814 ZNF814 . . . 0.001 0.084 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.034 . . 0.449 . . . 0.085 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.352 . . 0 0 0 0 0 0 . 0.284 . . 0.243 . . . . . . 0 0.184 . . . . . 0.099 . 0.012 . HET 0.28 rs544337361 . . . . . . . . . . . . IV.07 . . II.33 -4.67 . 0.550000 B7Z6K7 . . . . . 0.032 . . . 0.0020 0.0004 0.0004 0 0.0009 0 0.0002 0 0.0004 0.0034 0.0012 0.0024 0 0.0019 0 0.0003 0 . . 0.924 . -1.016 -1.016000 . . 0.550000 . . 1.0E-215 0.000 0.063 . 0.016 0.003 . 0.013 . 0.036 -1.016 -1.246 . rs62129163 rs62129163 rs62129163 rs62129163 1 1538 10 1/0 0,229,255 +rs141681057 19 58420660 T C - ZNF417 20646 Zinc finger protein 417 NM_152475.2 -1 4703 1728 NP_689688.2 Q8TAU3 substitution missense exon GRCh37 58420660 58420660 Chr19(GRCh37):g.58420660T>C 986 986 NM_152475.2:c.986A>G p.Tyr329Cys p.Tyr329Cys 3 823 3' 93.5595 7.99387 0.972371 7.1591 93.5595 7.99387 0.972371 7.1591 0 Zinc finger, C2H2 Zinc finger, C2H2-like rs141681057 yes no Frequency/1000G 2 T 0.000000 0 0.001597 0.000000 0.001000 0.003000 0.002000 0.002900 0.000612 0.000425 0.000292 0.000099 0.001721 0.000812 0.000685 0.000159 0.000000 0.001721 168 10 10 1 32 25 86 4 0 274414 23544 34272 10140 18592 30770 125612 25082 6402 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 168 10 10 1 32 25 86 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4186105|COSM4186105 Liver|Kidney 0.000844|0.000578 2371|1729 transition A G A>G 1.000 2.788 Y Tyr TAT 0.438 C Cys TGT 0.448 329 11 3 Sumatran orangutan -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 193.72 0.00 Tolerated 1 III.58 good 7.383E-1 0.001717 193 PASS . . . . . . 0.0016 0.0029 0.003 0.002 0.001 . . . . . 0.14102565 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.000 . . 156.0 . . . . . . . . . . -1.6986 -1.547 -1.699 c . . . . . 4.388e-03 . . . 0.0025 0.0039 0.0024 0.0080 0.0003 0.0054 0.0098 0.0012 0.0015 0.0016 0.0019 0.0046 0.0003 0.0013 0.0043 0.0012 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.006 . . exonic exonic exonic . . 0.196 0.0016 . . . 0.32 0.32 182 ENSG00000173480 ZNF417 ZNF417 . . . 0.632 0.220 . 21 0.000323196 64976 18 0.00030007 59986 Likely_benign . 0 . . . . . . T 0.017 0.001 . . 37 . 0.001 . . 0.381 . . . 0.000 0.265 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.283 . 0.232 . LowAF 1 rs141681057 . . . . . . . . . . . . VII.18 5.35E-4 . II.21 1.XII . 1.000000 Q8TAU3 . . . . . 0.030 . . . 0.0003 0.0006 0.0003 0.0001 0.0014 0.0001 0.0007 0 0.0008 0.0006 0.0009 0 0 0.0058 0.0003 0.0009 0 . . 0.730 . 0.271 0.271000 . . 1.000000 . . 1.0E-193 0.993 0.376 . 0.128 0.123 . 0.461 . 0.089 0.271 -0.672 . . . rs141681057 rs141681057 1 1538 10 1/0 0,210,255 +rs202194085 19 58420682 T C - ZNF417 20646 Zinc finger protein 417 NM_152475.2 -1 4703 1728 NP_689688.2 Q8TAU3 substitution missense exon GRCh37 58420682 58420682 Chr19(GRCh37):g.58420682T>C 964 964 NM_152475.2:c.964A>G p.Arg322Gly p.Arg322Gly 3 801 3' 93.5595 7.99387 0.972371 7.1591 93.5595 7.99387 0.972371 7.1591 0 Zinc finger, C2H2 rs202194085 yes no Frequency 1 C 0.000000 0 0.004552 0.001744 0.004338 0.000815 0.010923 0.003464 0.002300 0.018673 0.004696 0.018673 1164 39 134 8 174 104 274 403 28 255708 22358 30892 9820 15930 30020 119144 21582 5962 0.000023 0.000000 0.000000 0.000000 0.000000 0.000067 0.000017 0.000000 0.000335 3 0 0 0 0 1 1 0 1 1158 39 134 8 174 102 272 403 26 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5426716|COSM5426716|COSM5426716 Liver|Large intestine|Haematopoietic and lymphoid tissue 0.000422|0.000896|0.000283 2371|2231|3530 transition A G A>G 0.976 1.335 R Arg AGG 0.207 G Gly GGG 0.250 322 11 3 Dolphin -2 -2 -4 0.65 0.74 10.V 9 124 3 125 C0 131.18 0.00 Tolerated 0.3 III.58 good 9.776E-1 0.1386 213 PASS . . . . . . . . . . . . . . . . 0.19277108 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.278 . @ . . . . . 1 0.138 . . 166.0 . . . . . . . . . . -1.0519 -1.180 -1.052 c . . . . . 6.622e-03 . . . 0.0031 0.0056 0.0024 0.0120 0.0106 0.0065 0.0128 0.0034 0.0023 0.0035 0.0018 0.0079 0.0094 0.0027 0.0087 0.0034 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.199 . . exonic exonic exonic . . 0.198 @ . . . 0.33 0.36 182 ENSG00000173480 ZNF417 ZNF417 . . . 0.024 0.136 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . 0.259 . . 0.242 . . . 0.702 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.808 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.344 . . . . . 0.286 . 0.012 . HET 0.08 rs202194085 0.022 0.014 . . . . . . . . . . VII.67 0.0 . II.21 I.15 . 0.070000 Q8TAU3 . . . . . 0.199 . . . 0.0014 0.0042 0.0043 0.0007 0.0095 0.0191 0.0017 0.0047 0.0035 0.0024 0.0078 0.0043 0.0038 0.028 0.0164 0.0075 0.0046 . . 0.730 . -0.231 -0.231000 . . 0.070000 . . 1.0E-213 0.000 0.063 . 0.062 0.825 . 0.199 . 0.005 -0.231 -1.847 0.022 . . rs202194085 rs202194085 1 1538 10 1/0 0,212,255 +rs144049625 19 58871025 C A - ZNF497 23714 Zinc finger protein 497 NM_001207009.1 -1 3465 1497 NP_001193938.1 Q6ZNH5 substitution intron GRCh37 58871025 58871025 Chr19(GRCh37):g.58871025C>A -2024 -2024 NM_001207009.1:c.-14-2010G>T p.? p.? 2 1 -2010 3' 84.2134 14.262 0.99339 15.6394 84.2134 14.262 0.99339 15.6394 0 New Donor Site 58871027 1.91196 0.216774 62.4668 rs144049625 yes no Frequency/1000G 2 C 0.000000 0 0.011582 0.000800 0.036800 0.001000 0.012900 0.010100 0.007791 0.002523 0.015513 0.026490 0.000000 0.000000 0.011144 0.004587 0.015306 0.026490 241 22 13 8 0 0 167 16 15 30932 8720 838 302 1618 0 14986 3488 980 0.004149 0.000000 0.000000 0.000000 0.000000 0.000000 0.005988 0.000000 0.000000 1 0 0 0 0 0 1 0 0 239 22 13 8 0 0 165 16 15 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transversion G T G>T 0.008 0.690 255 PASS . 0.0046 0.02 . 0.01 0.0008 0.012 0.01 0.001 0.013 0.037 . . . . . 0.54545456 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.0491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0116 . . . 0.48 0.36 182 ENSG00000268230 ZNF497 ZNF497 . . . . . . 889 0.013682 64976 831 0.0138532 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs144049625 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0078 0.0155 0.0265 0 0.0046 0.0111 0.0153 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs144049625 rs144049625 1 1538 10 1/0 0,255,255 +rs574334204 19 58880710 A G - ZNF837 25164 Zinc finger protein 837 NM_138466.1 -1 1931 1596 NP_612475.1 Q96EG3 substitution 5'UTR GRCh37 58880710 58880710 Chr19(GRCh37):g.58880710A>G -11 -11 NM_138466.1:c.-11T>C p.? p.? 3 19 3' 87.3116 XII.82 0.954827 14.9516 87.3116 XII.82 0.958239 15.1612 0.00119114 rs574334204 yes no Frequency/1000G 2 A 0.000799 G 4 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.003978 0.001306 0.001685 0.000000 0.000000 0.001913 0.005945 0.004995 0.004115 0.005945 187 12 6 0 0 3 138 22 6 47012 9186 3560 574 3048 1568 23214 4404 1458 0.000043 0.000000 0.000000 0.000000 0.000000 0.000000 0.000086 0.000000 0.000000 1 0 0 0 0 0 1 0 0 185 12 6 0 0 3 136 22 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition T C T>C 0.000 -0.682 255 PASS . . . . . . 0.0008 . . 0.004 . . . . . . 0.43820226 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 89.0 . . . . . . . . . . -0.1974 . . . . . . . . 1.684e-03 . . . 0 0.0029 0 0 0 0.0049 0 0 0 0 0 0 0 0 . 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0008 . . . . . . ENSG00000152475 ZNF837 ZNF837 . . NM_138466:c.-11T>C . . . 255 0.00392453 64976 251 0.00418431 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs574334204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0040 0.0011 0 0 0.0044 0.0064 0.0021 0.0019 0.0014 0.0040 0.0036 0 0 0.0052 0.0057 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879474442 (chr19:59110798 C/T) 19 59110798 C T Not on a known gene +rs142429237 20 210048 T C - DEFB129 16218 Defensin, beta 129 NM_080831.3 1 698 552 NP_543021.1 Q9H1M3 substitution missense exon GRCh37 210048 210048 Chr20(GRCh37):g.210048T>C 188 188 NM_080831.3:c.188T>C p.Ile63Thr p.Ile63Thr 2 130 3' 95.0825 9.50825 0.957049 7.69681 95.0825 9.50825 0.957049 7.69681 0 rs142429237 yes no Frequency/1000G 2 T 0.000000 0 0.000998 0.000000 0.001000 0.000000 0.004000 0.000000 0.002093 0.000624 0.002703 0.000099 0.000000 0.001366 0.003047 0.000815 0.003407 0.003047 580 15 93 1 0 42 386 21 22 277088 24030 34400 10150 18860 30740 126696 25754 6458 0.000036 0.000000 0.000058 0.000000 0.000000 0.000065 0.000047 0.000000 0.000000 5 0 1 0 0 1 3 0 0 570 15 91 1 0 40 380 21 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8570 4404 12974 30 2 32 0.00348837 0.000453926 0.0024604 0.00348837 0.000453926 0.0024604 100 transition T C T>C 0.031 2.304 I Ile ATT 0.356 T Thr ACT 0.243 63 10 10 Elephant -1 -1 -2 0 0.71 5.II 8.VI 111 61 89 C65 0.00 89.28 Deleterious 0 III.33 bad 2.601E-4 0.0003309 255 PASS . 0.0018 . . 0.01 . 0.001 . . 0.004 0.001 ENSG00000125903:ENST00000246105:exon2:c.T188C:p.I63T DEFB129:uc002wda.3:exon2:c.T188C:p.I63T DEFB129:NM_080831:exon2:c.T188C:p.I63T . . 0.52272725 . . @ 23 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.440 . @ . . . . . 1 0.563 . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I63T|DEFB129|mRNA|CODING|NM_080831|NM_080831.ex.2) 0.0005 0.0025 0.0035 0.0005 0.0025 0.0035 . 0.0197 -0.137 0.020 c . . . . . 2.013e-03 . . . 0.0007 0.0020 0.0036 0 0.0013 0.0024 0.0028 0.0013 0.0007 0.0020 0.0037 0 0.0014 0.0024 0.0029 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.544 0.0010 . . . 0.21 0.32 182 ENSG00000125903 DEFB129 DEFB129 . . . 0.031 0.140 . 132 0.00203152 64976 127 0.00211716 59986 Uncertain_significance . 0 . 0.387 . . . . T 0.264 0.010 . . 37 . 0.469 . . 0.412 . . . 0.534 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.823 . . 0 0 0 0 0 0 . 0.899 . . 0.719 . . . . . . 0 0.912 . . . . . 0.438 . 0.747 . HET 0 rs142429237 . . . . . . . 0.0018315018315018315 0.0 0.0 0.0 0.005277044854881266 X.66 5.35E-4 ENST00000246105 IV.51 IV.51 . 0.000000 Q9H1M3 . . . 0.002460 . 0.191 . . IV.51 0.0005 0.0021 0.0027 0.0001 0 0.0009 0.0030 0.0035 0.0014 0.0008 0.0022 0.0024 0 0 0.0003 0.0036 0.0031 . . 0.133 . 2.257 2.257000 . . 0.000000 . . 1.0E-255 0.164 0.236 . 0.168 0.289 . 0.476 . 0.807 2.257 0.614 0.01 . . rs142429237 rs142429237 1 1538 10 1/0 0,255,255 +rs867273008 20 400525 G A - RBCK1 15864 RANBP2-type and C3HC4-type zinc finger containing 1 NM_031229.3 1 3950 1533 NP_112506.2 Q9BYM8 substitution intron GRCh37 400525 400525 Chr20(GRCh37):g.400525G>A 756+150 756+150 NM_031229.3:c.756+150G>A p.? p.? 6 6 610924 150 5' 79.7784 8.06623 0.754291 IX.79 79.7784 8.06623 0.754291 IX.79 0 rs867273008 no no 0 0.000000 0 0.001018 0.003629 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.003629 31 31 0 0 0 0 0 0 0 30442 8542 830 288 1608 0 14750 3456 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 31 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.984 1.255 255 PASS . . . . . . . . . . . . . . . . 0.45945945 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.6798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000125826 RBCK1 RBCK1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0036 0.0010 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 20 4854860 C CGT - SLC23A2 10973 Solute carrier family 23 (nucleobase transporters), member 2 NM_203327.1 -1 6962 1953 NP_976072.1 Q9UGH3 insertion intron GRCh37 4854860 4854861 Chr20(GRCh37):g.4854860_4854861insGT 946-123 946-122 NM_203327.1:c.946-123_946-122insAC p.? p.? 11 10 603791 -122 3' 79.4636 VII.38 0.801099 III.34 79.4636 VII.38 0.801099 III.34 0 AC 255 Pass . . . . . . . . . . . . . . . . 0.44827586 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000089057 SLC23A2 SLC23A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv912629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,35 +. 20 4880132 GCTCAATGCCTTCTGC G - SLC23A2 10973 Solute carrier family 23 (nucleobase transporters), member 2 NM_203327.1 -1 6962 1953 NP_976072.1 Q9UGH3 deletion intron GRCh37 4880132 4880146 Chr20(GRCh37):g.4880132_4880146del 482+55 482+69 NM_203327.1:c.482+55_482+69del p.? p.? 6 6 603791 55 5' 90.3087 9.21919 0.816472 V.54 90.3087 9.21919 0.816472 5.46043 0 Cryptic Acceptor Weakly Activated 4880116 4.76755 0.505269 72.9433 5.18481 0.618544 72.9433 AGAAGGCATTGAGCT 255 Pass . . . . . . . . . . . . . . . . 0.39285713 . . . 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000089057 SLC23A2 SLC23A2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +rs138793854 20 13140619 T A - SPTLC3 16253 Serine palmitoyltransferase long chain base subunit 3 NM_001349945.1 1 3742 1659 NP_001336874.1 Q9NUV7 substitution intron GRCh37 13140619 13140619 Chr20(GRCh37):g.13140619T>A 1416-31 1416-31 NM_001349945.1:c.1416-31T>A p.? p.? 12 11 611120 -31 3' 84.8834 8.50126 0.979289 10.1743 84.8834 8.50126 0.979289 10.1524 0 rs138793854 yes no Frequency/1000G 2 T 0.000000 0 0.003594 0.000000 0.008200 0.000000 0.008000 0.002900 0.008235 0.001208 0.005178 0.076337 0.000000 0.018322 0.005695 0.007451 0.008009 0.076337 1412 22 83 391 0 273 483 130 30 171470 18216 16028 5122 11202 14900 84808 17448 3746 0.000163 0.000000 0.000000 0.002343 0.000000 0.000805 0.000000 0.000229 0.000000 14 0 0 6 0 6 0 2 0 1384 22 83 379 0 261 483 126 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8077 3564 11641 49 4 53 0.00603003 0.00112108 0.00453224 0.00603003 0.00112108 0.00453224 47 transversion T A T>A 0.000 0.044 255 PASS . 0.0032 0.01 . 0.01 . 0.0036 0.0029 . 0.008 0.0082 . . . . . 0.625 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . INTRON(MODIFIER||||SPTLC3|mRNA|CODING|NM_018327|) 0.0011 0.0045 0.006 0.0011 0.0045 0.006 . -0.4237 . . . . . . . . 5.820e-03 . . . 0.0012 0.0098 0.0037 0 0.0058 0.0121 0.0135 0.0186 0.0013 0.0081 0.0037 0 0.0054 0.0089 0.0130 0.0188 . . . . . . intronic intronic intronic . . . 0.0036 . . . 0.42 0.33 182 ENSG00000172296 SPTLC3 SPTLC3 . . . . . . 265 0.00407843 64976 247 0.00411763 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138793854 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004532 . . . . . 0.0012 0.0091 0.0051 0.0784 0 0.0077 0.0060 0.0093 0.0183 0.0012 0.0039 0.0064 0.0414 0 0.0065 0.0045 0.0042 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138793854 rs138793854 1 1538 10 1/0 0,255,255 +. 20 17934791 C CT - SNX5 14969 Sorting nexin 5 NM_014426.3 -1 2345 1215 NP_055241.1 Q9Y5X3 duplication intron GRCh37 17934791 17934792 Chr20(GRCh37):g.17934792dup 268-31 268-31 NM_014426.3:c.268-31dup p.? p.? 4 3 605937 -30 3' 83.2663 7.82913 0.897588 5.97779 83.2663 7.82913 0.897588 5.37165 0 rs200601304 yes no Frequency/1000G 2 0.000000 0 0.003994 0.001500 0.003100 0.000000 0.008900 0.008600 0.008463 0.001709 0.008566 0.028654 0.000000 0.007914 0.009771 0.006275 0.012180 0.028654 2324 41 290 287 0 240 1227 161 78 274606 23988 33856 10016 18784 30326 125576 25656 6404 0.000138 0.000000 0.000177 0.000200 0.000000 0.000264 0.000127 0.000078 0.000625 19 0 3 1 0 4 8 1 2 2286 41 284 285 0 232 1211 159 74 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8152 4248 12400 100 12 112 0.0121183 0.0028169 0.00895141 0.0121183 0.0028169 0.00895141 71 A 255 Pass 0.01 0.01 0.01 . 0.01 0.0015 0.004 0.0086 . 0.0089 0.0031 . . . . . 0.47126436 . . . 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 87 . . . 0.0028 0.0089 0.012 0.0028 0.009 0.012 . . . . . . . . . . 8.177e-03 . . . 0.0024 0.0090 0.0085 0 0.0071 0.0126 0.0140 0.0074 0.0025 0.0081 0.0086 0 0.0054 0.0107 0.0101 0.0074 . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000089006 SNX5 SNX5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200601304 . 0.007 . . . . . . . . . . . . . . . . . . . . . 0.008946 . . . . . 0.0020 0.0087 0.0084 0.0283 0 0.0063 0.0098 0.0129 0.0079 0.0011 0.0067 0.0167 0.0397 0 0.0063 0.0094 0.0081 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs200601304 rs200601304 1 1538 10 1.I 0,12,33 +rs62213504 20 25754225 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754225 25754225 Chr20(GRCh37):g.25754225C>T 2032 2032 XR_244224.1:n.2032G>A 3 1724 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs62213504 no no 0 0.000000 0 transition G A G>A 0.000 -1.893 255 PASS . . . . . . . . . . . . . . . . 0.8064516 . . @ 100 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 124.0 . . . . . . . . . . -0.6572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.35 0.19 182 ENSG00000175170 FAM182B FAM182B . . . . . . 7957 0.122461 64976 7957 0.132648 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs62213504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62213504 rs62213504 rs62213504 rs62213504 1 1538 10 1/0 0,252,247 +rs779864301 20 25754253 G A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754253 25754253 Chr20(GRCh37):g.25754253G>A 2004 2004 XR_244224.1:n.2004C>T 3 1696 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 Cryptic Acceptor Weakly Activated 25754243 3.77423 0.189922 71.9294 3.64666 0.234102 75.2121 rs779864301 no no 0 0.000000 0 transition C T C>T 0.000 -0.682 213 PASS . . . . . . . . . . . . . . . . 0.19298245 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 114.0 . . . . . . . . . . -0.3354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs779864301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs79046098 20 25754256 G A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754256 25754256 Chr20(GRCh37):g.25754256G>A 2001 2001 XR_244224.1:n.2001C>T 3 1693 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 Cryptic Acceptor Strongly Activated 25754243 3.77423 0.189922 71.9294 4.71039 0.404892 75.045 rs79046098 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4385965 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 114.0 . . . . . . . . . . 0.0187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.34 0.18 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79046098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79046098 rs79046098 1 1538 10 1/0 0,251,255 +rs796164429 20 25754263 A T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754263 25754263 Chr20(GRCh37):g.25754263A>T 1994 1994 XR_244224.1:n.1994T>A 3 1686 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs796164429 no no 0 0.000000 0 transversion T A T>A 0.000 -1.086 216 PASS . . . . . . . . . . . . . . . . 0.20168068 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.2878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.32 0.22 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . rs71189678 rs71189678 rs71189678 1 1538 10 1/0 0,228,255 +rs73347168 20 25754269 A G - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754269 25754269 Chr20(GRCh37):g.25754269A>G 1988 1988 XR_244224.1:n.1988T>C 3 1680 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs73347168 no no 0 0.000000 0 transition T C T>C 0.008 0.690 255 PASS . . . . . . . . . . . . . . . . 0.3478261 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . . . . . . . 0.1223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.33 0.24 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73347168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs73347168 rs73347168 rs73347168 1 1538 10 1/0 0,243,255 +rs112771311 20 25754287 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754287 25754287 Chr20(GRCh37):g.25754287C>T 1970 1970 XR_244224.1:n.1970G>A 3 1662 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 New Acceptor Site 25754285 0.52735 6,00E-06 67.1344 rs112771311 no no 0 0.000000 0 transition G A G>A 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.35051546 . . @ 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . -0.1151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.34 0.23 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs112771311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs112771311 rs112771311 1 1538 10 1/0 0,251,255 +rs77627492 20 25754295 T A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754295 25754295 Chr20(GRCh37):g.25754295T>A 1962 1962 XR_244224.1:n.1962A>T 3 1654 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs77627492 no no 0 0.000000 0 transversion A T A>T 0.000 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.79746836 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 79.0 . . . . . . . . . . -0.2401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.35 0.21 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs77627492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77627492 rs77627492 1 1538 10 1/0 0,255,255 +rs199884738 20 25754306 A C - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754306 25754306 Chr20(GRCh37):g.25754306A>C 1951 1951 XR_244224.1:n.1951T>G 3 1643 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 New Acceptor Site 25754305 5.853 0.234446 73.0182 rs199884738 no no 0 0.000000 0 transversion T G T>G 0.024 0.609 255 PASS . . . . . . . . . . . . . . . . 0.44 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 75.0 . . . . . . . . . . 0.0579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.37 0.16 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs199884738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs199884738 rs199884738 1 1538 10 1/0 0,255,255 +rs77097669 20 25754316 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754316 25754316 Chr20(GRCh37):g.25754316C>T 1941 1941 XR_244224.1:n.1941G>A 3 1633 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs77097669 no no 0 0.000000 0 transition G A G>A 0.000 -0.117 255 PASS . . . . . . . . . . . . . . . . 0.7164179 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 67.0 . . . . . . . . . . -0.4926 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.3 0.16 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs77097669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77097669 rs77097669 1 1538 10 1/0 0,255,255 +rs796083055 20 25754335 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution exon GRCh37 25754335 25754335 Chr20(GRCh37):g.25754335C>T 1922 1922 XR_244224.1:n.1922G>A 3 1614 3' 79.8523 7.25227 0.89771 7.60363 79.8523 7.25227 0.89771 7.60363 0 rs796083055 no no 0 0.000000 0 transition G A G>A 0.000 -0.521 251 PASS . . . . . . . . . . . . . . . . 0.3137255 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . -0.4240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879021904 20 25767295 G A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution intron GRCh37 25767295 25767295 Chr20(GRCh37):g.25767295G>A 308+86 308+86 XR_244224.1:n.308+86C>T p.? p.? 2 2 86 5' 69.1252 0 0 0 69.1252 0 0 0 0 rs879021904 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.508 0.448 234 PASS . . . . . . . . . . . . . . . . 0.25609756 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 164.0 . . . . . . . . . . -0.2429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +. 20 25767332 C T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution intron GRCh37 25767332 25767332 Chr20(GRCh37):g.25767332C>T 308+49 308+49 XR_244224.1:n.308+49G>A p.? p.? 2 2 49 5' 69.1252 0 0 0 69.1252 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.008 -0.037 183 PASS . . . . . . . . . . . . . . . . 0.11949685 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . . . . . . . . . -0.4844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +rs201757611 20 25767343 T A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution intron GRCh37 25767343 25767343 Chr20(GRCh37):g.25767343T>A 308+38 308+38 XR_244224.1:n.308+38A>T p.? p.? 2 2 38 5' 69.1252 0 0 0 69.1252 0 0 0 0 rs201757611 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A T A>T 0.047 0.367 228 PASS . . . . . . . . . . . . . . . . 0.23571429 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 140.0 . . . . . . . . . . -0.4296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.59 0.37 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs201757611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . rs201757611 rs201757611 1 1538 10 1/0 0,224,255 +. 20 25767352 G T - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution intron GRCh37 25767352 25767352 Chr20(GRCh37):g.25767352G>T 308+29 308+29 XR_244224.1:n.308+29C>A p.? p.? 2 2 29 5' 69.1252 0 0 0 69.1252 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion C A C>A 0.228 0.448 181 PASS . . . . . . . . . . . . . . . . 0.11594203 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 138.0 . . . . . . . . . . -0.3148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs200079904 20 25767379 G A - FAM182B 34503 Family with sequence similarity 182, member B XR_244224.1 -1 6023 0 substitution splice site GRCh37 25767379 25767379 Chr20(GRCh37):g.25767379G>A 308+2 308+2 XR_244224.1:n.308+2C>T p.? p.? 2 2 2 5' 69.1252 0 0 0 72.1081 7.75781 0.624368 4.19193 0.681051 Cryptic Donor Strongly Activated 25767381 69.1252 7.75781 0.624368 72.1081 rs200079904 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 0.024 0.448 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 108.0 . . . . . . . . . . -0.4292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_splicing ncRNA_splicing . . . @ . . . 0.52 0.19 182 ENSG00000175170 FAM182B FAM182B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs200079904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs200079904 rs200079904 1 1538 10 1/0 0,224,255 +rs79754881 (chr20:25900128 A/T) 20 25900128 A T Not on a known gene +rs11699441 (chr20:25900135 C/A) 20 25900135 C A Not on a known gene +rs6037279 (chr20:25900162 C/A) 20 25900162 C A Not on a known gene +. (chr20:25900164 CCAA/C) 20 25900164 CCAA C Not on a known gene +. (chr20:25900190 AAATT/A) 20 25900190 AAATT A Not on a known gene +rs74935724 (chr20:25900215 T/C) 20 25900215 T C Not on a known gene +rs62212279 (chr20:25900249 G/A) 20 25900249 G A Not on a known gene +. 20 26049798 C T - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution exon GRCh37 26049798 26049798 Chr20(GRCh37):g.26049798C>T 718 718 NR_026713.1:n.718C>T 2 -43 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.986929 3.35914 0 Cryptic Donor Strongly Activated 26049796 69.1252 7.75781 0.624368 72.1081 transition C T C>T 0.004 -0.440 187 PASS . . . . . . . . . . . . . . . . 0.12962963 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 108.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H240Y|FAM182A|Non-coding_transcript|NON_CODING|NR_026713|NR_026713.ex.2) . . . . . . . -0.6319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000125804\x3bENSG00000125804 FAM182A FAM182A ENST00000415411:exon2:c.442+2C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +. 20 26049834 A T - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution exon GRCh37 26049834 26049834 Chr20(GRCh37):g.26049834A>T 754 754 NR_026713.1:n.754A>T 2 -7 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.971958 3.68609 -0.00505643 transversion A T A>T 0.004 -2.216 224 PASS . . . . . . . . . . . . . . . . 0.22556391 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 133.0 . . STOP_GAINED(HIGH|NONSENSE|Aaa/Taa|K252*|FAM182A|Non-coding_transcript|NON_CODING|NR_026713|NR_026713.ex.2) . . . . . . . -1.4471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.305 -2.305000 . . 0.000000 . . 1.0E-224 . . . . . . . . . -2.305 . . . . . . 1 1538 10 1/0 0,225,255 +. 20 26049845 G A - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution splice site GRCh37 26049845 26049845 Chr20(GRCh37):g.26049845G>A 760+5 760+5 NR_026713.1:n.760+5G>A p.? p.? 2 2 5 5' 81.6064 5.61347 0.986929 3.91522 69.4549 0 0.314079 0 -0.610222 transition G A G>A 0.004 -0.521 183 PASS . . . . . . . . . . . . . . . . 0.11949685 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 159.0 . . INTRON(MODIFIER||||FAM182A|Non-coding_transcript|NON_CODING|NR_026713|) . . . . . . . -0.4595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,208,255 +. 20 26049882 C T - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution intron GRCh37 26049882 26049882 Chr20(GRCh37):g.26049882C>T 760+42 760+42 NR_026713.1:n.760+42C>T p.? p.? 2 2 42 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.986929 3.71422 0 transition C T C>T 0.083 -1.893 228 PASS . . . . . . . . . . . . . . . . 0.23563218 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 174.0 . . INTRON(MODIFIER||||FAM182A|Non-coding_transcript|NON_CODING|NR_026713|) . . . . . . . -0.7824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,215,255 +. 20 26049966 T A - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution intron GRCh37 26049966 26049966 Chr20(GRCh37):g.26049966T>A 760+126 760+126 NR_026713.1:n.760+126T>A p.? p.? 2 2 126 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.986929 3.91522 0 transversion T A T>A 0.000 -2.700 184 PASS . . . . . . . . . . . . . . . . 0.121212125 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . INTRON(MODIFIER||||FAM182A|Non-coding_transcript|NON_CODING|NR_026713|) . . . . . . . -0.9840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +. 20 26049967 T G - FAM182A 16222 Family with sequence similarity 182, member A NR_026713.1 1 5111 0 substitution intron GRCh37 26049967 26049967 Chr20(GRCh37):g.26049967T>G 760+127 760+127 NR_026713.1:n.760+127T>G p.? p.? 2 2 127 5' 81.6064 5.61347 0.986929 3.91522 81.6064 5.61347 0.986929 3.91522 0 transversion T G T>G 0.000 -2.135 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . INTRON(MODIFIER||||FAM182A|Non-coding_transcript|NON_CODING|NR_026713|) . . . . . . . -0.8718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000125804 FAM182A FAM182A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,216,255 +rs62196805 20 26188923 A C - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188923 26188923 Chr20(GRCh37):g.26188923A>C -9 -9 NR_030386.1:n.-9T>G p.? p.? 1 rs62196805 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -3.911 255 PASS . . . . . . . . . . . . . . . . 0.9104355 . . @ 1108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1217.0 . . . . . . . . . . -0.4478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.45 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62196805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62196805 rs62196805 rs62196805 rs62196805 1 1538 10 1/0 0,146,143 +rs62196805 20 26188923 A C - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188923 26188923 Chr20(GRCh37):g.26188923A>C 111+836 111+836 NR_040095.1:n.111+836T>G p.? p.? 1 1 836 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs62196805 yes no Frequency 1 A 0.000000 0 transversion T G T>G 0.000 -3.911 255 PASS . . . . . . . . . . . . . . . . 0.9104355 . . @ 1108 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1217.0 . . . . . . . . . . -0.4478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.45 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs62196805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62196805 rs62196805 rs62196805 rs62196805 1 1538 10 1/0 0,146,143 +rs374365309 20 26188934 C A - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188934 26188934 Chr20(GRCh37):g.26188934C>A -20 -20 NR_030386.1:n.-20G>T p.? p.? 1 rs374365309 no no 0 C 0.000000 0 transversion G T G>T 0.000 -3.669 255 PASS . . . . . . . . . . . . . . . . 0.81288344 . . @ 530 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 652.0 . . . . . . . . . . -0.4840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374365309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374365309 rs374365309 1 1538 10 1/0 0,175,170 +rs374365309 20 26188934 C A - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188934 26188934 Chr20(GRCh37):g.26188934C>A 111+825 111+825 NR_040095.1:n.111+825G>T p.? p.? 1 1 825 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs374365309 no no 0 C 0.000000 0 transversion G T G>T 0.000 -3.669 255 PASS . . . . . . . . . . . . . . . . 0.81288344 . . @ 530 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 652.0 . . . . . . . . . . -0.4840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374365309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs374365309 rs374365309 1 1538 10 1/0 0,175,170 +rs372087370 20 26188942 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188942 26188942 Chr20(GRCh37):g.26188942A>G -28 -28 NR_030386.1:n.-28T>C p.? p.? 1 rs372087370 no no 0 A 0.000000 0 transition T C T>C 0.000 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.8515284 . . @ 780 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 916.0 . . . . . . . . . . -0.0925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372087370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372087370 rs372087370 1 1538 10 1/0 0,159,154 +rs372087370 20 26188942 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188942 26188942 Chr20(GRCh37):g.26188942A>G 111+817 111+817 NR_040095.1:n.111+817T>C p.? p.? 1 1 817 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs372087370 no no 0 A 0.000000 0 transition T C T>C 0.000 -2.054 255 PASS . . . . . . . . . . . . . . . . 0.8515284 . . @ 780 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 916.0 . . . . . . . . . . -0.0925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372087370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372087370 rs372087370 1 1538 10 1/0 0,159,154 +. 20 26188950 C CG - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 insertion upstream GRCh37 26188950 26188951 Chr20(GRCh37):g.26188950_26188951insG -37 -36 NR_030386.1:n.-37_-36insC p.? p.? 1 rs374803620 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.75208914 . . . 540 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374803620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,12 +. 20 26188950 C CG - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 insertion intron GRCh37 26188950 26188951 Chr20(GRCh37):g.26188950_26188951insG 111+808 111+809 NR_040095.1:n.111+808_111+809insC p.? p.? 1 1 808 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs374803620 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.75208914 . . . 540 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs374803620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,12 +rs375032346 20 26188951 T G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188951 26188951 Chr20(GRCh37):g.26188951T>G -37 -37 NR_030386.1:n.-37A>C p.? p.? 1 rs375032346 no no 0 G 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000969 0.000000 1 0 0 0 0 0 0 0 1 36942 658 6392 3042 542 9446 14092 1738 1032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 49 Exomes transversion A C A>C 0.012 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.8103208 . . @ 581 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 717.0 . . . . . . . . . . 0.0937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs375032346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.707e-05 0 0 0 0 0 0.0010 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375032346 rs375032346 1 1538 10 1/0 0,175,171 +rs375032346 20 26188951 T G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188951 26188951 Chr20(GRCh37):g.26188951T>G 111+808 111+808 NR_040095.1:n.111+808A>C p.? p.? 1 1 808 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs375032346 no no 0 G 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000969 0.000000 1 0 0 0 0 0 0 0 1 36942 658 6392 3042 542 9446 14092 1738 1032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 PASS 49 Exomes transversion A C A>C 0.012 -1.247 255 PASS . . . . . . . . . . . . . . . . 0.8103208 . . @ 581 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 717.0 . . . . . . . . . . 0.0937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs375032346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.707e-05 0 0 0 0 0 0.0010 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375032346 rs375032346 1 1538 10 1/0 0,175,171 +rs369481709 20 26188954 T C - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188954 26188954 Chr20(GRCh37):g.26188954T>C -40 -40 NR_030386.1:n.-40A>G p.? p.? 1 rs369481709 no no 0 T 0.000000 0 transition A G A>G 0.087 0.125 255 PASS . . . . . . . . . . . . . . . . 0.76419216 . . @ 525 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . . . . . . . . . 0.4658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs369481709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369481709 rs369481709 1 1538 10 1/0 0,180,175 +rs369481709 20 26188954 T C - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188954 26188954 Chr20(GRCh37):g.26188954T>C 111+805 111+805 NR_040095.1:n.111+805A>G p.? p.? 1 1 805 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs369481709 no no 0 T 0.000000 0 transition A G A>G 0.087 0.125 255 PASS . . . . . . . . . . . . . . . . 0.76419216 . . @ 525 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 687.0 . . . . . . . . . . 0.4658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs369481709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs369481709 rs369481709 1 1538 10 1/0 0,180,175 +. 20 26188963 C CG - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 duplication upstream GRCh37 26188963 26188964 Chr20(GRCh37):g.26188964dup -50 -50 NR_030386.1:n.-50dup p.? p.? 1 rs367883420 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.7492163 . . . 478 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367883420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,13 +. 20 26188963 C CG - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 duplication intron GRCh37 26188963 26188964 Chr20(GRCh37):g.26188964dup 111+795 111+795 NR_040095.1:n.111+795dup p.? p.? 1 1 795 5' 76.1785 0 0 0 76.1785 0 0 0 0 Cryptic Acceptor Strongly Activated 26188949 0.866122 0.000123 61.7058 2.02842 0.000169 61.7058 rs367883420 no no 0 0.000000 0 C 255 Pass . . . . . . . . . . . . . . . . 0.7492163 . . . 478 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367883420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,13 +rs372007260 20 26188973 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188973 26188973 Chr20(GRCh37):g.26188973A>G -59 -59 NR_030386.1:n.-59T>C p.? p.? 1 rs372007260 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.7542857 . . @ 396 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 525.0 . . . . . . . . . . 0.3979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372007260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372007260 rs372007260 1 1538 10 1/0 0,186,181 +rs372007260 20 26188973 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188973 26188973 Chr20(GRCh37):g.26188973A>G 111+786 111+786 NR_040095.1:n.111+786T>C p.? p.? 1 1 786 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs372007260 no no 0 A 0.000000 0 transition T C T>C 0.000 -0.198 255 PASS . . . . . . . . . . . . . . . . 0.7542857 . . @ 396 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 525.0 . . . . . . . . . . 0.3979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs372007260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs372007260 rs372007260 1 1538 10 1/0 0,186,181 +rs375334500 20 26188981 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188981 26188981 Chr20(GRCh37):g.26188981A>G -67 -67 NR_030386.1:n.-67T>C p.? p.? 1 rs375334500 no no 0 A 0.000000 0 transition T C T>C 0.000 -4.234 255 PASS . . . . . . . . . . . . . . . . 0.7756286 . . @ 401 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 517.0 . . . . . . . . . . -0.4275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs375334500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375334500 rs375334500 1 1538 10 1/0 0,192,187 +rs375334500 20 26188981 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188981 26188981 Chr20(GRCh37):g.26188981A>G 111+778 111+778 NR_040095.1:n.111+778T>C p.? p.? 1 1 778 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs375334500 no no 0 A 0.000000 0 transition T C T>C 0.000 -4.234 255 PASS . . . . . . . . . . . . . . . . 0.7756286 . . @ 401 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 517.0 . . . . . . . . . . -0.4275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs375334500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs375334500 rs375334500 1 1538 10 1/0 0,192,187 +rs28410824 20 26188989 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188989 26188989 Chr20(GRCh37):g.26188989A>G -75 -75 NR_030386.1:n.-75T>C p.? p.? 1 rs28410824 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.0188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.48 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28410824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28410824 rs28410824 rs28410824 rs28410824 1 1538 10 1/0 0,225,255 +rs28410824 20 26188989 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188989 26188989 Chr20(GRCh37):g.26188989A>G 111+770 111+770 NR_040095.1:n.111+770T>C p.? p.? 1 1 770 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs28410824 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.651 255 PASS . . . . . . . . . . . . . . . . 0.3529412 . . @ 66 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 187.0 . . . . . . . . . . -0.0188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.48 0.48 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28410824 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs28410824 rs28410824 rs28410824 rs28410824 1 1538 10 1/0 0,225,255 +. 20 26188994 C CGA - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 insertion upstream GRCh37 26188994 26188995 Chr20(GRCh37):g.26188994_26188995insGA -81 -80 NR_030386.1:n.-81_-80insTC p.? p.? 1 TC 255 Pass . . . . . . . . . . . . . . . . 0.3409091 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +. 20 26188994 C CGA - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 insertion intron GRCh37 26188994 26188995 Chr20(GRCh37):g.26188994_26188995insGA 111+764 111+765 NR_040095.1:n.111+764_111+765insTC p.? p.? 1 1 764 5' 76.1785 0 0 0 76.1785 0 0 0 0 TC 255 Pass . . . . . . . . . . . . . . . . 0.3409091 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,47 +. 20 26188995 A C - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26188995 26188995 Chr20(GRCh37):g.26188995A>C -81 -81 NR_030386.1:n.-81T>G p.? p.? 1 transversion T G T>G 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.32824427 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . 0.2387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +. 20 26188995 A C - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26188995 26188995 Chr20(GRCh37):g.26188995A>C 111+764 111+764 NR_040095.1:n.111+764T>G p.? p.? 1 1 764 5' 76.1785 0 0 0 76.1785 0 0 0 0 transversion T G T>G 0.000 -1.328 255 PASS . . . . . . . . . . . . . . . . 0.32824427 . . @ 43 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . 0.2387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs143959040 20 26189002 G C - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26189002 26189002 Chr20(GRCh37):g.26189002G>C -88 -88 NR_030386.1:n.-88C>G p.? p.? 1 rs143959040 no no 0 G 0.000000 0 transversion C G C>G 0.000 -0.440 238 PASS . . . . . . . . . . . . . . . . 0.26712328 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.4112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.53 0.47 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143959040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs1761118 rs1761118 rs143959040 rs143959040 1 1538 10 1/0 0,226,255 +rs143959040 20 26189002 G C - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26189002 26189002 Chr20(GRCh37):g.26189002G>C 111+757 111+757 NR_040095.1:n.111+757C>G p.? p.? 1 1 757 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs143959040 no no 0 G 0.000000 0 transversion C G C>G 0.000 -0.440 238 PASS . . . . . . . . . . . . . . . . 0.26712328 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.4112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.53 0.47 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143959040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . rs1761118 rs1761118 rs143959040 rs143959040 1 1538 10 1/0 0,226,255 +rs114289380 20 26189004 G A - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26189004 26189004 Chr20(GRCh37):g.26189004G>A -90 -90 NR_030386.1:n.-90C>T p.? p.? 1 rs114289380 no no 0 G 0.000000 0 transition C T C>T 0.000 0.044 237 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.2737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.55 0.45 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114289380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs114289380 rs114289380 1 1538 10 1/0 0,231,255 +rs114289380 20 26189004 G A - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26189004 26189004 Chr20(GRCh37):g.26189004G>A 111+755 111+755 NR_040095.1:n.111+755C>T p.? p.? 1 1 755 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs114289380 no no 0 G 0.000000 0 transition C T C>T 0.000 0.044 237 PASS . . . . . . . . . . . . . . . . 0.2631579 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.2737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.55 0.45 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114289380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs114289380 rs114289380 1 1538 10 1/0 0,231,255 +. 20 26189007 A AC - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 duplication upstream GRCh37 26189007 26189008 Chr20(GRCh37):g.26189008dup -94 -94 NR_030386.1:n.-94dup p.? p.? 1 rs367646429 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.27108434 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367646429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,57 +. 20 26189007 A AC - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 duplication intron GRCh37 26189007 26189008 Chr20(GRCh37):g.26189008dup 111+751 111+751 NR_040095.1:n.111+751dup p.? p.? 1 1 751 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs367646429 no no 0 0.000000 0 G 255 Pass . . . . . . . . . . . . . . . . 0.27108434 . . . 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs367646429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,57 +rs76285564 20 26189009 A G - MIR663A 32919 MicroRNA 663a NR_030386.1 -1 93 0 substitution upstream GRCh37 26189009 26189009 Chr20(GRCh37):g.26189009A>G -95 -95 NR_030386.1:n.-95T>C p.? p.? 1 rs76285564 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.5214724 . . @ 85 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.2644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.53 0.46 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76285564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76285564 rs76285564 1 1538 10 1/0 0,244,255 +rs76285564 20 26189009 A G - MIR663AHG 27662 MIR663A host gene NR_040095.1 -1 1213 0 substitution intron GRCh37 26189009 26189009 Chr20(GRCh37):g.26189009A>G 111+750 111+750 NR_040095.1:n.111+750T>C p.? p.? 1 1 750 5' 76.1785 0 0 0 76.1785 0 0 0 0 rs76285564 no no 0 A 0.000000 0 transition T C T>C 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.5214724 . . @ 85 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.2644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.53 0.46 182 ENSG00000227195 LOC284801 MIR663AHG . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76285564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76285564 rs76285564 1 1538 10 1/0 0,244,255 +. 20 29623075 C CAAAG - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 insertion intron GRCh37 29623077 29623078 Chr20(GRCh37):g.29623077_29623078insAGAA 291-52 291-51 NR_003579.1:n.291-52_291-51insAGAA p.? p.? 3 2 -51 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 4.92509 0 rs150711278 no no 0 0.000000 0 AGAA 255 Pass . . . . . . . . . . . . . . . . 0.47058824 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150711278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs150711278 rs150711278 1 1538 10 1.I 0,12,33 +. 20 29623075 C CAAAG - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 insertion intron GRCh37 29623077 29623078 Chr20(GRCh37):g.29623077_29623078insAGAA 134-52 134-51 NR_132316.1:n.134-52_134-51insAGAA p.? p.? 3 2 -51 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 4.92509 0 rs150711278 no no 0 0.000000 0 AGAA 255 Pass . . . . . . . . . . . . . . . . 0.47058824 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150711278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs150711278 rs150711278 1 1538 10 1.I 0,12,33 +rs10439603 20 29623103 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29623103 29623103 Chr20(GRCh37):g.29623103G>A 291-26 291-26 NR_003579.1:n.291-26G>A p.? p.? 3 2 -26 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.51494 0 rs10439603 no no 0 0.000000 0 transition G A G>A 0.016 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.37878788 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.2096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.29 0.22 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10439603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs10439603 rs10439603 rs10439603 rs10439603 1 1538 10 1/0 0,255,255 +rs10439603 20 29623103 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29623103 29623103 Chr20(GRCh37):g.29623103G>A 134-26 134-26 NR_132316.1:n.134-26G>A p.? p.? 3 2 -26 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.51494 0 rs10439603 no no 0 0.000000 0 transition G A G>A 0.016 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.37878788 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . -0.2096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.29 0.22 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10439603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs10439603 rs10439603 rs10439603 rs10439603 1 1538 10 1/0 0,255,255 +. 20 29623113 CA C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 deletion intron GRCh37 29623115 29623115 Chr20(GRCh37):g.29623115del 291-14 291-14 NR_003579.1:n.291-14del p.? p.? 3 2 -14 3' 92.9953 11.0214 0.986563 4.92732 92.9953 X.17 0.992779 5.44732 -0.0178524 rs150951095 yes no Frequency/1000G 2 0.000000 0 0.401358 0.460700 0.485700 0.359100 0.328000 0.337200 A 255 Pass . . . . . 0.46 0.4 0.34 0.36 0.33 0.49 . . . . . 0.17204301 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 93 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150951095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs150951095 rs150951095 1 1538 10 1.I 0,7,76 +. 20 29623113 CA C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 deletion intron GRCh37 29623115 29623115 Chr20(GRCh37):g.29623115del 134-14 134-14 NR_132316.1:n.134-14del p.? p.? 3 2 -14 3' 92.9953 11.0214 0.986563 4.92732 92.9953 X.17 0.992779 5.44732 -0.0178524 rs150951095 yes no Frequency/1000G 2 0.000000 0 0.401358 0.460700 0.485700 0.359100 0.328000 0.337200 A 255 Pass . . . . . 0.46 0.4 0.34 0.36 0.33 0.49 . . . . . 0.17204301 . . . 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 93 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs150951095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs150951095 rs150951095 1 1538 10 1.I 0,7,76 +rs76803871 20 29623115 A T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29623115 29623115 Chr20(GRCh37):g.29623115A>T 291-14 291-14 NR_003579.1:n.291-14A>T p.? p.? 3 2 -14 3' 92.9953 11.0214 0.986563 4.92732 93.3933 XI.39 0.992975 VI.06 0.0199987 rs76803871 no no 0 0.000000 0 transversion A T A>T 0.000 -0.279 202 PASS . . . . . . . . . . . . . . . . 0.16494845 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . -0.2830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.41 0.15 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76803871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs76803871 rs76803871 1 1538 10 1/0 0,233,255 +rs76803871 20 29623115 A T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29623115 29623115 Chr20(GRCh37):g.29623115A>T 134-14 134-14 NR_132316.1:n.134-14A>T p.? p.? 3 2 -14 3' 92.9953 11.0214 0.986563 4.92732 93.3933 XI.39 0.992975 VI.06 0.0199987 rs76803871 no no 0 0.000000 0 transversion A T A>T 0.000 -0.279 202 PASS . . . . . . . . . . . . . . . . 0.16494845 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 97.0 . . . . . . . . . . -0.2830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.41 0.15 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76803871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . rs76803871 rs76803871 1 1538 10 1/0 0,233,255 +rs62198335 20 29623156 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29623156 29623156 Chr20(GRCh37):g.29623156G>A 318 318 NR_003579.1:n.318G>A 3 28 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.16172 0 rs62198335 yes no Frequency 1 0.000000 0 transition G A G>A 1.000 2.062 175 PASS . . . . . . . . . . . . . . . . 0.102564104 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 195.0 . . . . . . . . . . 1.1836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic ncRNA_exonic . . . @ . . . 0.66 0.58 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs62198335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs62198335 rs62198335 rs62198335 rs62198335 1 1538 10 1/0 0,197,255 +rs62198335 20 29623156 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29623156 29623156 Chr20(GRCh37):g.29623156G>A 161 161 NR_132316.1:n.161G>A 3 28 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.16172 0 rs62198335 yes no Frequency 1 0.000000 0 transition G A G>A 1.000 2.062 175 PASS . . . . . . . . . . . . . . . . 0.102564104 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 195.0 . . . . . . . . . . 1.1836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 intronic ncRNA_exonic . . . @ . . . 0.66 0.58 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs62198335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . rs62198335 rs62198335 rs62198335 rs62198335 1 1538 10 1/0 0,197,255 +rs76771829 20 29623175 A T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29623175 29623175 Chr20(GRCh37):g.29623175A>T 337 337 NR_003579.1:n.337A>T 3 47 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.21906 0 rs76771829 no no 0 0.000000 0 0.000093 0.000000 0.000030 0.000101 0.000109 0.000232 0.000106 0.000000 0.000161 0.000232 25 0 1 1 2 7 13 0 1 267790 22962 33128 9924 18364 30170 122164 24882 6196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 1 1 2 7 13 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.992 -0.360 178 PASS . . . . . . . . . . . . . . . . 0.1092437 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 238.0 . . . . . . . . . . 0.7613 . . . . . . . . . . . . 0.0002 0.0001 0 0.0005 0 0.0002 0 0 0.0002 9.649e-05 0 0.0004 0 9.469e-05 0 0 . . . . . . UTR5 intronic ncRNA_exonic . . . @ . . . 0.66 0.66 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76771829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.238e-05 3.083e-05 0.0001 0.0001 0 2.746e-05 0.0002 0.0002 0 0.0004 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs76771829 rs76771829 1 1538 10 1/0 0,190,255 +rs76771829 20 29623175 A T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29623175 29623175 Chr20(GRCh37):g.29623175A>T 180 180 NR_132316.1:n.180A>T 3 47 3' 92.9953 11.0214 0.986563 4.92732 92.9953 11.0214 0.986563 5.21906 0 rs76771829 no no 0 0.000000 0 0.000093 0.000000 0.000030 0.000101 0.000109 0.000232 0.000106 0.000000 0.000161 0.000232 25 0 1 1 2 7 13 0 1 267790 22962 33128 9924 18364 30170 122164 24882 6196 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 1 1 2 7 13 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.992 -0.360 178 PASS . . . . . . . . . . . . . . . . 0.1092437 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 238.0 . . . . . . . . . . 0.7613 . . . . . . . . . . . . 0.0002 0.0001 0 0.0005 0 0.0002 0 0 0.0002 9.649e-05 0 0.0004 0 9.469e-05 0 0 . . . . . . UTR5 intronic ncRNA_exonic . . . @ . . . 0.66 0.66 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76771829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.238e-05 3.083e-05 0.0001 0.0001 0 2.746e-05 0.0002 0.0002 0 0.0004 0 0 0 0 0.0008 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . rs76771829 rs76771829 1 1538 10 1/0 0,190,255 +rs77485836 20 29623215 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29623215 29623215 Chr20(GRCh37):g.29623215G>A 377 377 NR_003579.1:n.377G>A 3 -40 5' 79.6441 7.80624 0.859886 2.76582 79.6441 7.80624 0.859886 2.25607 0 rs77485836 yes no Frequency/1000G 2 0.000000 0 0.027556 0.010600 0.033700 0.023800 0.026800 0.057600 0.000070 0.000000 0.000000 0.000000 0.000054 0.000000 0.000130 0.000040 0.000159 0.000130 19 0 0 0 1 0 16 1 1 270108 23010 33642 10008 18544 30592 123028 25010 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 0 0 1 0 16 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 3.676 211 PASS . . . . . 0.011 0.028 0.058 0.024 0.027 0.034 ENSG00000149531:ENST00000439954:exon3:c.G31A:p.D11N . . . . 0.18644068 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 236.0 . . . . . . . . . . 0.0741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic ncRNA_exonic . . . 0.0276 . . . 0.37 0.32 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77485836 . . . . . . . . . . . . IX.43 . ENST00000439954 I.93 I.93 . 0.060000 . . . . . . . . . . 0 8.256e-06 0 0 5.884e-05 0 0 0.0002 0 0 0.0006 0 0 0 0.0004 0.0012 0 . . . . 1.399 1.399000 . . 0.060000 . . 1.0E-211 . . . . . . . . . 1.399 . . . . rs77485836 rs77485836 1 1538 10 1/0 0,197,255 +rs77485836 20 29623215 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29623215 29623215 Chr20(GRCh37):g.29623215G>A 220 220 NR_132316.1:n.220G>A 3 -40 5' 79.6441 7.80624 0.859886 1.78837 79.6441 7.80624 0.859886 1.27863 0 rs77485836 yes no Frequency/1000G 2 0.000000 0 0.027556 0.010600 0.033700 0.023800 0.026800 0.057600 0.000070 0.000000 0.000000 0.000000 0.000054 0.000000 0.000130 0.000040 0.000159 0.000130 19 0 0 0 1 0 16 1 1 270108 23010 33642 10008 18544 30592 123028 25010 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 0 0 1 0 16 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 3.676 211 PASS . . . . . 0.011 0.028 0.058 0.024 0.027 0.034 ENSG00000149531:ENST00000439954:exon3:c.G31A:p.D11N . . . . 0.18644068 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 236.0 . . . . . . . . . . 0.0741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic ncRNA_exonic . . . 0.0276 . . . 0.37 0.32 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs77485836 . . . . . . . . . . . . IX.43 . ENST00000439954 I.93 I.93 . 0.060000 . . . . . . . . . . 0 8.256e-06 0 0 5.884e-05 0 0 0.0002 0 0 0.0006 0 0 0 0.0004 0.0012 0 . . . . 1.399 1.399000 . . 0.060000 . . 1.0E-211 . . . . . . . . . 1.399 . . . . rs77485836 rs77485836 1 1538 10 1/0 0,197,255 +rs8120738 20 29623957 C G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29623957 29623957 Chr20(GRCh37):g.29623957C>G 416+703 416+703 NR_003579.1:n.416+703C>G p.? p.? 3 3 703 5' 79.6441 7.80624 0.859886 2.76582 79.6441 7.80624 0.859886 2.76582 0 rs8120738 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.279 140 PASS . . . . . . . . . . . . . . . . 0.1632653 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.2041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.37 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs8120738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-140 . . . . . . . . . . . . rs8120738 rs8120738 rs8120738 rs201899792 1 1538 10 1/0 0,255,255 +rs8120738 20 29623957 C G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29623957 29623957 Chr20(GRCh37):g.29623957C>G 260-78 260-78 NR_132316.1:n.260-78C>G p.? p.? 4 3 -78 3' 0 0 0 0 0 0 0 0 0 29623960 -20.2941 rs8120738 yes no Frequency 1 0.000000 0 transversion C G C>G 0.000 -0.279 140 PASS . . . . . . . . . . . . . . . . 0.1632653 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 49.0 . . . . . . . . . . -0.2041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.44 0.37 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs8120738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-140 . . . . . . . . . . . . rs8120738 rs8120738 rs8120738 rs201899792 1 1538 10 1/0 0,255,255 +. 20 29624020 G GT - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 duplication intron GRCh37 29624026 29624027 Chr20(GRCh37):g.29624026dup 416+772 416+772 NR_003579.1:n.416+772dup p.? p.? 3 3 772 5' 79.6441 7.80624 0.859886 2.76582 79.6441 7.80624 0.859886 2.76582 0 rs148324184 yes no Frequency/1000G 2 0.000000 0 0.000539 0.000000 0.002473 0.000123 0.000864 0.000601 0.000226 0.000134 0.000803 0.002473 113 0 59 1 12 13 21 3 4 209586 21598 23858 8154 13888 21648 93114 22346 4980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 113 0 59 1 12 13 21 3 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.46551725 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . . . . . . . . . . . . . . . . . . 3.987e-05 . . . 0 0.0001 0 0 0.0019 0.0002 0 0 0 0.0001 0 0 0.0005 0.0003 0 0 . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148324184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0026 0.0001 0.0010 0.0002 0.0002 0.0010 0.0006 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148324184 rs148324184 1 1538 10 1.I 0,12,33 +. 20 29624020 G GT - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 duplication intron GRCh37 29624026 29624027 Chr20(GRCh37):g.29624026dup 260-9 260-9 NR_132316.1:n.260-9dup p.? p.? 4 3 -8 3' 0 0 0 0 0 0 0 0 0 rs148324184 yes no Frequency/1000G 2 0.000000 0 0.000539 0.000000 0.002473 0.000123 0.000864 0.000601 0.000226 0.000134 0.000803 0.002473 113 0 59 1 12 13 21 3 4 209586 21598 23858 8154 13888 21648 93114 22346 4980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 113 0 59 1 12 13 21 3 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes T 255 Pass . . . . . . . . . . . . . . . . 0.46551725 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . . . . . . . . . . . . . . . . . . 3.987e-05 . . . 0 0.0001 0 0 0.0019 0.0002 0 0 0 0.0001 0 0 0.0005 0.0003 0 0 . . . . . . intronic intronic ncRNA_intronic . . . . . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148324184 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0026 0.0001 0.0010 0.0002 0.0002 0.0010 0.0006 0 0.0002 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs148324184 rs148324184 1 1538 10 1.I 0,12,33 +rs77915801 20 29624070 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29624070 29624070 Chr20(GRCh37):g.29624070G>A 416+816 416+816 NR_003579.1:n.416+816G>A p.? p.? 3 3 816 5' 79.6441 7.80624 0.859886 2.76582 79.6441 7.80624 0.859886 2.76582 0 rs77915801 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.000000 0.001000 0.002000 0.000000 0.000265 0.000000 0.000879 0.000000 0.000720 0.000306 0.000141 0.000000 0.000768 0.000879 59 0 23 0 11 7 14 0 4 222552 21642 26168 8490 15268 22904 99592 23278 5210 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 0 23 0 11 7 14 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 2.950 255 PASS . . . . . . 0.0006 . 0.001 0.002 . . FRG1B:uc010ztl.1:exon1:c.G4A:p.A2T . . . 0.36585367 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.692 . @ . . . . . 1 0.783 . . 41.0 . . . . . . . . . . 0.0419 -0.015 0.042 c . . . . . 1.280e-04 . . . 0 0.0001 0 0.0009 0.0010 0.0002 0 0 0 0.0002 0 0.0020 0.0003 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.247 @ . . . 0.58 0.38 182 ENSG00000149531 FRG1B FRG1DP . . . 0.967 0.289 . . . . . . . . . 0 . 0.504 . . . . T 0.112 0.005 . . 37 . 0.509 . . 0.552 . . . . 0.426 . . . . . . . . . . . . . . . 0.630 . . . . . . 0 . . 0.358 . . 0.473 . . . . . . 1 0.473 . . . . . 0.401 . 0.710 . HET 0.02 rs113131305 . . . . . . . . . . . . IX.27 . . I.91 I.91 . 0.050000 F5H5R5 . . . . . 0.572 . . . 0 0.0003 0.0009 0 0.0007 0 0.0001 0.0009 0.0003 0 0.0001 0 0 0.0012 0 0.0001 0 . . 0.409 . 1.383 1.383000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.161 0.720 . 0.896 . 0.280 1.383 0.697 . rs4302016 rs4302016 rs77915801 rs113131305 1 1538 10 1/0 0,255,255 +rs77915801 20 29624070 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29624070 29624070 Chr20(GRCh37):g.29624070G>A 295 295 NR_132316.1:n.295G>A 4 -22 5' 0 0 0 0 0 0 0 0 0 rs77915801 yes no Frequency/1000G 2 0.000000 0 0.000599 0.000000 0.000000 0.001000 0.002000 0.000000 0.000265 0.000000 0.000879 0.000000 0.000720 0.000306 0.000141 0.000000 0.000768 0.000879 59 0 23 0 11 7 14 0 4 222552 21642 26168 8490 15268 22904 99592 23278 5210 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 59 0 23 0 11 7 14 0 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 2.950 255 PASS . . . . . . 0.0006 . 0.001 0.002 . . FRG1B:uc010ztl.1:exon1:c.G4A:p.A2T . . . 0.36585367 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.692 . @ . . . . . 1 0.783 . . 41.0 . . . . . . . . . . 0.0419 -0.015 0.042 c . . . . . 1.280e-04 . . . 0 0.0001 0 0.0009 0.0010 0.0002 0 0 0 0.0002 0 0.0020 0.0003 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.247 @ . . . 0.58 0.38 182 ENSG00000149531 FRG1B FRG1DP . . . 0.967 0.289 . . . . . . . . . 0 . 0.504 . . . . T 0.112 0.005 . . 37 . 0.509 . . 0.552 . . . . 0.426 . . . . . . . . . . . . . . . 0.630 . . . . . . 0 . . 0.358 . . 0.473 . . . . . . 1 0.473 . . . . . 0.401 . 0.710 . HET 0.02 rs113131305 . . . . . . . . . . . . IX.27 . . I.91 I.91 . 0.050000 F5H5R5 . . . . . 0.572 . . . 0 0.0003 0.0009 0 0.0007 0 0.0001 0.0009 0.0003 0 0.0001 0 0 0.0012 0 0.0001 0 . . 0.409 . 1.383 1.383000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.161 0.720 . 0.896 . 0.280 1.383 0.697 . rs4302016 rs4302016 rs77915801 rs113131305 1 1538 10 1/0 0,255,255 +rs75736243 20 29625817 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625817 29625817 Chr20(GRCh37):g.29625817T>C 417-56 417-56 NR_003579.1:n.417-56T>C p.? p.? 4 3 -56 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.534861 3.32577 0 rs75736243 yes no Frequency 1 0.000000 0 transition T C T>C 0.000 1.416 186 PASS . . . . . . . . . . . . . . . . 0.12676056 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . . . . . . . . . 0.2281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.51 0.23 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75736243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs75736243 rs75736243 1 1538 10 1/0 0,213,255 +rs75736243 20 29625817 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625817 29625817 Chr20(GRCh37):g.29625817T>C 317-56 317-56 NR_132316.1:n.317-56T>C p.? p.? 5 4 -56 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.93532 0.536457 2.84638 0 rs75736243 yes no Frequency 1 0.000000 0 transition T C T>C 0.000 1.416 186 PASS . . . . . . . . . . . . . . . . 0.12676056 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 142.0 . . . . . . . . . . 0.2281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.51 0.23 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75736243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs75736243 rs75736243 1 1538 10 1/0 0,213,255 +rs149947792 20 29625818 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625818 29625818 Chr20(GRCh37):g.29625818C>T 417-55 417-55 NR_003579.1:n.417-55C>T p.? p.? 4 3 -55 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.534861 3.31966 0 rs149947792 no no 0 0.000000 0 transition C T C>T 0.000 0.286 167 PASS . . . . . . . . . . . . . . . . 0.122137405 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . 0.0026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.17 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs149947792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-167 . . . . . . . . . . . . . . rs149947792 rs149947792 1 1538 10 1/0 0,217,255 +rs149947792 20 29625818 C T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625818 29625818 Chr20(GRCh37):g.29625818C>T 317-55 317-55 NR_132316.1:n.317-55C>T p.? p.? 5 4 -55 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.93532 0.536457 2.84027 0 rs149947792 no no 0 0.000000 0 transition C T C>T 0.000 0.286 167 PASS . . . . . . . . . . . . . . . . 0.122137405 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . 0.0026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.17 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs149947792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-167 . . . . . . . . . . . . . . rs149947792 rs149947792 1 1538 10 1/0 0,217,255 +rs75914051 20 29625832 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625832 29625832 Chr20(GRCh37):g.29625832T>C 417-41 417-41 NR_003579.1:n.417-41T>C p.? p.? 4 3 -41 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.534861 3.72955 0 rs75914051 yes no Frequency 1 0.000000 0 transition T C T>C 0.079 -0.521 180 PASS . . . . . . . . . . . . . . . . 0.1125 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 160.0 . . . . . . . . . . -0.4082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.47 0.22 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75914051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75914051 rs75914051 1 1538 10 1/0 0,207,255 +rs75914051 20 29625832 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625832 29625832 Chr20(GRCh37):g.29625832T>C 317-41 317-41 NR_132316.1:n.317-41T>C p.? p.? 5 4 -41 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.93532 0.536457 3.25016 0 rs75914051 yes no Frequency 1 0.000000 0 transition T C T>C 0.079 -0.521 180 PASS . . . . . . . . . . . . . . . . 0.1125 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 160.0 . . . . . . . . . . -0.4082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.47 0.22 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs75914051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs75914051 rs75914051 1 1538 10 1/0 0,207,255 +rs79978281 20 29625852 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625852 29625852 Chr20(GRCh37):g.29625852A>G 417-21 417-21 NR_003579.1:n.417-21A>G p.? p.? 4 3 -21 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.429037 III.85 -0.0659511 29625852 -71.1578 rs79978281 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242696 14910 33396 9634 17236 30192 109720 22230 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 137 Exomes transition A G A>G 0.787 0.125 244 PASS . . . . . . . . . . . . . . . . 0.28651685 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . . . . . . . . . -0.1804 . . . . . . . . 7.905e-06 . . . 0 1.14e-05 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.14 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79978281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs79978281 rs79978281 1 1538 10 1/0 0,218,255 +rs79978281 20 29625852 A G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625852 29625852 Chr20(GRCh37):g.29625852A>G 317-21 317-21 NR_132316.1:n.317-21A>G p.? p.? 5 4 -21 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.93532 0.428376 3.0291 -0.0671573 29625852 -71.1578 rs79978281 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 242696 14910 33396 9634 17236 30192 109720 22230 5378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 137 Exomes transition A G A>G 0.787 0.125 244 PASS . . . . . . . . . . . . . . . . 0.28651685 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 178.0 . . . . . . . . . . -0.1804 . . . . . . . . 7.905e-06 . . . 0 1.14e-05 0 0.0002 0 0 0 0 . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.14 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs79978281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs79978281 rs79978281 1 1538 10 1/0 0,218,255 +rs78946960 20 29625855 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29625855 29625855 Chr20(GRCh37):g.29625855T>C 417-18 417-18 NR_003579.1:n.417-18T>C p.? p.? 4 3 -18 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.88248 0.523575 3.70198 -0.010001 rs78946960 yes no Frequency 1 0.000000 0 transition T C T>C 0.772 0.932 247 PASS . . . . . . . . . . . . . . . . 0.29444444 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.1759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.52 0.18 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78946960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs78946960 rs78946960 1 1538 10 1/0 0,219,255 +rs78946960 20 29625855 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29625855 29625855 Chr20(GRCh37):g.29625855T>C 317-18 317-18 NR_132316.1:n.317-18T>C p.? p.? 5 4 -18 3' 83.6483 5.93532 0.536457 2.96102 83.6483 5.88248 0.519499 3.22259 -0.0135044 rs78946960 yes no Frequency 1 0.000000 0 transition T C T>C 0.772 0.932 247 PASS . . . . . . . . . . . . . . . . 0.29444444 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 180.0 . . . . . . . . . . -0.1759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.52 0.18 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78946960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . rs78946960 rs78946960 1 1538 10 1/0 0,219,255 +rs7266938 20 29625877 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29625877 29625877 Chr20(GRCh37):g.29625877G>A 421 421 NR_003579.1:n.421G>A 4 5 3' 83.6483 5.93532 0.534861 3.44042 83.6483 5.93532 0.536457 3.05361 0.000994651 rs7266938 yes no Frequency/HapMap 2 0.000000 0 0.000117 0.000169 0.000029 0.000000 0.000914 0.000066 0.000056 0.000000 0.000156 0.000914 32 4 1 0 17 2 7 0 1 274494 23628 34100 10080 18604 30526 125500 25650 6406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 4 1 0 17 2 7 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 3.353 255 PASS . . . . . . . . . . . . FRG1B:uc010ztl.1:exon2:c.G31A:p.A11T . . . 0.489011 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.326 . @ . . . . . 1 0.260 . . 182.0 . . . . . . . . . . -0.3992 -0.398 -0.399 c . . . . . 5.052e-04 . . . 0.0011 0.0004 8.741e-05 0.0029 0.0003 0.0002 0 6.12e-05 0.0012 0.0003 9.016e-05 0.0021 0.0002 0.0001 0 6.153e-05 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.231 @ . . . 0.59 0.31 182 ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.843 . . . . T 0.020 0.001 . . 37 . 0.476 . . 0.433 . . . . 0.520 . . . . . . . . . . . . . . . 0.535 . . . . . . 0 . . 0.241 . . 0.276 . . . . . . 0 0.359 . . . . . 0.371 . 0.748 . HET 0.03 rs7266938 . . . . . . . . . . . . IX.57 . . I.68 I.68 . 0.230000 F5H5R5 . . . . . 0.432 . . . 0.0003 0.0001 3.006e-05 0 0.0010 0 6.335e-05 0.0002 6.552e-05 0 0 0 0 0 0 0 0 . . 0.547 . 1.250 1.250000 . . 0.230000 . . 1.0E-255 1.000 0.715 . 0.193 0.918 . 0.681 . 0.026 1.250 -0.891 . rs1138719 rs1138719 rs7266938 rs7266938 1 1538 10 1/0 0,233,252 +rs7266938 (chr20:29625877 G/A) 20 29625877 G A Transcript NR_132316.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) FRG1DP +rs77850078 20 29628177 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628177 29628177 Chr20(GRCh37):g.29628177C>T 529-50 529-50 NR_003579.1:n.529-50C>T p.? p.? 5 4 -50 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.753957 4.63455 0 Cryptic Acceptor Strongly Activated 29628187 1.94057 0.033086 77.5156 2.10931 0.093279 80.7982 rs77850078 yes no Frequency 1 0.000000 0 transition C T C>T 0.079 0.770 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.25 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77850078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs77850078 rs77850078 1 1538 10 1/0 0,237,255 +rs77850078 20 29628177 C T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29628177 29628177 Chr20(GRCh37):g.29628177C>T 429-50 429-50 NR_132316.1:n.429-50C>T p.? p.? 6 5 -50 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 4.74322 0 Cryptic Acceptor Strongly Activated 29628187 1.94057 0.033086 77.5156 2.10931 0.093279 80.7982 rs77850078 yes no Frequency 1 0.000000 0 transition C T C>T 0.079 0.770 180 PASS . . . . . . . . . . . . . . . . 0.11392405 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . 0.0737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.25 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs77850078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . rs77850078 rs77850078 1 1538 10 1/0 0,237,255 +rs371105330 20 29628181 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628181 29628181 Chr20(GRCh37):g.29628181C>T 529-46 529-46 NR_003579.1:n.529-46C>T p.? p.? 5 4 -46 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.753957 4.90634 0 Cryptic Acceptor Strongly Activated 29628187 1.94057 0.033086 77.5156 2.16011 0.063759 79.6188 29628184 -13.8503 rs371105330 yes no Frequency 1 0.000000 0 0.000070 0.000177 0.000037 0.000000 0.000230 0.000038 0.000050 0.000061 0.000204 0.000230 15 3 1 0 3 1 5 1 1 214588 16930 27084 8982 13060 26530 100740 16350 4912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 3 1 0 3 1 5 1 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.055 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.25263157 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.2427 . . . . . . . . 1.303e-03 . . . 0.0009 0.0010 0.0010 0.0019 0.0003 0.0013 0 0.0003 0.0011 0.0012 0.0009 0.0025 0.0005 0.0014 0 0.0003 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371105330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 7.76e-05 3.755e-05 0 0.0003 6.454e-05 5.65e-05 0.0002 3.769e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . rs371105330 rs371105330 1 1538 10 1/0 0,241,255 +rs371105330 20 29628181 C T - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29628181 29628181 Chr20(GRCh37):g.29628181C>T 429-46 429-46 NR_132316.1:n.429-46C>T p.? p.? 6 5 -46 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.01501 0 Cryptic Acceptor Strongly Activated 29628187 1.94057 0.033086 77.5156 2.16011 0.063759 79.6188 29628184 -13.8503 rs371105330 yes no Frequency 1 0.000000 0 0.000070 0.000177 0.000037 0.000000 0.000230 0.000038 0.000050 0.000061 0.000204 0.000230 15 3 1 0 3 1 5 1 1 214588 16930 27084 8982 13060 26530 100740 16350 4912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 3 1 0 3 1 5 1 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.055 -0.279 233 PASS . . . . . . . . . . . . . . . . 0.25263157 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 95.0 . . . . . . . . . . -0.2427 . . . . . . . . 1.303e-03 . . . 0.0009 0.0010 0.0010 0.0019 0.0003 0.0013 0 0.0003 0.0011 0.0012 0.0009 0.0025 0.0005 0.0014 0 0.0003 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371105330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 7.76e-05 3.755e-05 0 0.0003 6.454e-05 5.65e-05 0.0002 3.769e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . rs371105330 rs371105330 1 1538 10 1/0 0,241,255 +rs76195463 20 29628185 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628185 29628185 Chr20(GRCh37):g.29628185A>G 529-42 529-42 NR_003579.1:n.529-42A>G p.? p.? 5 4 -42 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.753957 5.19134 0 New Acceptor Site 29628186 11.319 0.953356 93.2327 rs76195463 yes no Frequency 1 0.000000 0 0.000048 0.000485 0.000000 0.000000 0.000000 0.000033 0.000008 0.000000 0.000000 0.000485 13 11 0 0 0 1 1 0 0 273608 22678 34116 10092 18690 30218 125628 25776 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 11 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.024 -0.117 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.3075 . . . . . . . . 1.350e-03 . . . 0.0098 0.0015 0.0010 0.0007 0 0.0005 0 0.0009 0.0103 0.0012 0.0010 0.0007 0 0.0004 0 0.0009 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.57 0.23 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76195463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 5.358e-05 0 0 0 0 9.04e-06 0 3.309e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs76195463 rs76195463 1 1538 10 1/0 0,226,255 +rs76195463 20 29628185 A G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29628185 29628185 Chr20(GRCh37):g.29628185A>G 429-42 429-42 NR_132316.1:n.429-42A>G p.? p.? 6 5 -42 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.30001 0 New Acceptor Site 29628186 11.319 0.953356 93.2327 rs76195463 yes no Frequency 1 0.000000 0 0.000048 0.000485 0.000000 0.000000 0.000000 0.000033 0.000008 0.000000 0.000000 0.000485 13 11 0 0 0 1 1 0 0 273608 22678 34116 10092 18690 30218 125628 25776 6410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 11 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.024 -0.117 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . . . . . . . . -0.3075 . . . . . . . . 1.350e-03 . . . 0.0098 0.0015 0.0010 0.0007 0 0.0005 0 0.0009 0.0103 0.0012 0.0010 0.0007 0 0.0004 0 0.0009 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.57 0.23 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs76195463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 5.358e-05 0 0 0 0 9.04e-06 0 3.309e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs76195463 rs76195463 1 1538 10 1/0 0,226,255 +rs190481836 20 29628216 G C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628216 29628216 Chr20(GRCh37):g.29628216G>C 529-11 529-11 NR_003579.1:n.529-11G>C p.? p.? 5 4 -11 3' 86.7742 8.69554 0.753957 4.96759 86.7742 9.35903 0.903552 6.01968 0.0915718 Cryptic Acceptor Weakly Activated 29628227 8.69554 0.753957 86.7742 9.35903 0.903552 86.7742 rs190481836 no no 0 0.000000 0 transversion G C G>C 0.992 0.770 185 PASS . . . . . . . . . . . . . . . . 0.12328767 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.2102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.62 0.36 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs190481836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs190481836 rs190481836 1 1538 10 1/0 0,212,255 +rs190481836 20 29628216 G C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution intron GRCh37 29628216 29628216 Chr20(GRCh37):g.29628216G>C 429-11 429-11 NR_132316.1:n.429-11G>C p.? p.? 6 5 -11 3' 86.7742 IX.41 0.783666 5.07625 86.7742 X.76 0.915087 6.12835 0.0789281 Cryptic Acceptor Weakly Activated 29628227 IX.41 0.783666 86.7742 X.76 0.915087 86.7742 rs190481836 no no 0 0.000000 0 transversion G C G>C 0.992 0.770 185 PASS . . . . . . . . . . . . . . . . 0.12328767 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . 0.2102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.62 0.36 182 ENSG00000149531 FRG1B . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs190481836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs190481836 rs190481836 1 1538 10 1/0 0,212,255 +rs754561929 20 29628243 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29628243 29628243 Chr20(GRCh37):g.29628243T>C 545 545 NR_003579.1:n.545T>C 5 17 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.773487 5.29528 0.00863444 rs754561929 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 276794 23988 34418 10148 18866 30782 126350 25782 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 3.272 183 PASS . . . . . . . . . . . . . . . . 0.1183432 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.490 . @ . . . . . 1 0.633 . . 169.0 . . . . . . . . . . -0.1877 -0.159 -0.188 c . . . . . 7.893e-05 . . . 0.0002 5.531e-05 0 0 0 7.141e-05 0 0 0.0002 4.723e-05 0 0 0 5.533e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.260 @ . . . . . . ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.452 . . . . T 0.041 0.002 . . 37 . 0.384 . . 0.251 . . . . 0.457 . . . . . . . . . . . . . . . 0.648 . . . . . . 0 . . 0.275 . . 0.357 . . . . . . 0 0.413 . . . . . 0.297 . 0.710 . LowAF 0.03 rs754561929 . . . . . . . . . . . . 8.0833 . . 2.VIII 2.VIII . 0.180000 . . . . . . 0.446 . . 2.VIII 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.988 . 1.208 1.208000 . . 0.180000 . . 1.0E-183 1.000 0.715 . 0.625 0.994 . 0.780 . 0.286 1.208 0.732 . . . . . 1 1538 10 1/0 0,205,255 +rs754561929 20 29628243 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29628243 29628243 Chr20(GRCh37):g.29628243T>C 445 445 NR_132316.1:n.445T>C 6 17 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.801207 5.40395 0.00746109 rs754561929 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 276794 23988 34418 10148 18866 30782 126350 25782 6460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 3.272 183 PASS . . . . . . . . . . . . . . . . 0.1183432 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.490 . @ . . . . . 1 0.633 . . 169.0 . . . . . . . . . . -0.1877 -0.159 -0.188 c . . . . . 7.893e-05 . . . 0.0002 5.531e-05 0 0 0 7.141e-05 0 0 0.0002 4.723e-05 0 0 0 5.533e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.260 @ . . . . . . ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.452 . . . . T 0.041 0.002 . . 37 . 0.384 . . 0.251 . . . . 0.457 . . . . . . . . . . . . . . . 0.648 . . . . . . 0 . . 0.275 . . 0.357 . . . . . . 0 0.413 . . . . . 0.297 . 0.710 . LowAF 0.03 rs754561929 . . . . . . . . . . . . 8.0833 . . 2.VIII 2.VIII . 0.180000 . . . . . . 0.446 . . 2.VIII 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . 0.988 . 1.208 1.208000 . . 0.180000 . . 1.0E-183 1.000 0.715 . 0.625 0.994 . 0.780 . 0.286 1.208 0.732 . . . . . 1 1538 10 1/0 0,205,255 +rs74920001 20 29628254 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29628254 29628254 Chr20(GRCh37):g.29628254A>G 556 556 NR_003579.1:n.556A>G 5 28 3' 86.7742 8.69554 0.753957 4.96759 86.7742 8.69554 0.753957 5.59477 0 Cryptic Acceptor Strongly Activated 29628268 0.512643 3.02226 0.540567 70.8554 rs74920001 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 1.900 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.145 . @ . . . . . 1 0.068 . . 170.0 . . . . . . . . . . -0.4675 -0.380 -0.467 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.260 @ . . . 0.67 0.37 182 ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.843 . . . . T 0.016 0.001 . . 37 . 0.183 . . 0.168 . . . . 0.406 . . . . . . . . . . . . . . . 0.048 . . . . . . 0 . . 0.172 . . 0.203 . . . . . . 0 0.022 . . . . . 0.297 . 0.572 . LowAF 0.96 rs74920001 . . . . . . . . . . . . 8.0833 . . 2.VIII 2.VIII . 1.000000 . . . . . . 0.324 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.988 . 1.208 1.208000 . . 1.000000 . . 1.0E-176 1.000 0.715 . 0.523 0.999 . 0.600 . 0.294 1.208 0.780 . . . rs74920001 rs74920001 1 1538 10 1/0 0,204,255 +rs74920001 20 29628254 A G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution exon GRCh37 29628254 29628254 Chr20(GRCh37):g.29628254A>G 456 456 NR_132316.1:n.456A>G 6 28 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.70344 0 Cryptic Acceptor Strongly Activated 29628268 0.515411 3.02226 0.566494 70.8554 rs74920001 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 1.900 176 PASS . . . . . . . . . . . . . . . . 0.105882354 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.145 . @ . . . . . 1 0.068 . . 170.0 . . . . . . . . . . -0.4675 -0.380 -0.467 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.260 @ . . . 0.67 0.37 182 ENSG00000149531 FRG1B . . . . 1.000 0.747 . . . . . . . . . 0 . 0.843 . . . . T 0.016 0.001 . . 37 . 0.183 . . 0.168 . . . . 0.406 . . . . . . . . . . . . . . . 0.048 . . . . . . 0 . . 0.172 . . 0.203 . . . . . . 0 0.022 . . . . . 0.297 . 0.572 . LowAF 0.96 rs74920001 . . . . . . . . . . . . 8.0833 . . 2.VIII 2.VIII . 1.000000 . . . . . . 0.324 . . 2.VIII . . . . . . . . . . . . . . . . . . . 0.988 . 1.208 1.208000 . . 1.000000 . . 1.0E-176 1.000 0.715 . 0.523 0.999 . 0.600 . 0.294 1.208 0.780 . . . rs74920001 rs74920001 1 1538 10 1/0 0,204,255 +rs79254137 20 29628336 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution splice site GRCh37 29628336 29628336 Chr20(GRCh37):g.29628336T>C 633+5 633+5 NR_003579.1:n.633+5T>C p.? p.? 5 5 5 5' 82.2818 8.99306 0.977393 0.904114 81.9786 X.32 0.977869 1.08682 0.0434168 rs79254137 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244324 14936 33532 9800 17208 30710 110400 22288 5450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 168 Exomes transition T C T>C 0.890 0.448 187 PASS . . . . . . . . . . . . . . . . 0.12883435 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.4908 . . . . . . . . 1.579e-05 . . . 0 2.237e-05 0.0002 0 0 0 0 0 0 1.909e-05 0.0002 0 0 0 0 0 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.6 0.31 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs79254137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs79254137 rs79254137 1 1538 10 1/0 0,208,255 +rs79254137 20 29628336 T C - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution downstream GRCh37 29628336 29628336 Chr20(GRCh37):g.29628336T>C *5 *5 NR_132316.1:n.*5T>C p.? p.? 6 110 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.07625 0 rs79254137 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244324 14936 33532 9800 17208 30710 110400 22288 5450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 168 Exomes transition T C T>C 0.890 0.448 187 PASS . . . . . . . . . . . . . . . . 0.12883435 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 163.0 . . . . . . . . . . 0.4908 . . . . . . . . 1.579e-05 . . . 0 2.237e-05 0.0002 0 0 0 0 0 0 1.909e-05 0.0002 0 0 0 0 0 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.6 0.31 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs79254137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . rs79254137 rs79254137 1 1538 10 1/0 0,208,255 +rs77720423 20 29628374 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628374 29628374 Chr20(GRCh37):g.29628374G>A 633+43 633+43 NR_003579.1:n.633+43G>A p.? p.? 5 5 43 5' 82.2818 8.99306 0.977393 0.904114 82.2818 8.99306 0.977393 1.1086 0 Cryptic Donor Strongly Activated 29628376 2.89923 0.013208 67.272 3.24636 0.025657 70.02 rs77720423 yes no Frequency 1 0.000000 0 0.000097 0.000618 0.000060 0.000000 0.000057 0.000034 0.000060 0.000000 0.000163 0.000618 25 13 2 0 1 1 7 0 1 258226 21038 33452 9876 17454 29148 115862 25252 6144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 13 2 0 1 1 7 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.279 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.2206 . . . . . . . . 1.330e-03 . . . 0.0040 0.0011 0.0015 0.0003 0.0020 0.0006 0.0017 0.0006 0.0042 0.0010 0.0014 0.0004 0.0013 0.0006 0 0.0006 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.3 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs77720423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0001 6.132e-05 0 6.316e-05 0 6.94e-05 0.0002 3.431e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs77720423 rs77720423 1 1538 10 1/0 0,215,255 +rs77720423 20 29628374 G A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution downstream GRCh37 29628374 29628374 Chr20(GRCh37):g.29628374G>A *43 *43 NR_132316.1:n.*43G>A p.? p.? 6 148 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.07625 0 Cryptic Donor Strongly Activated 29628376 2.89923 0.013208 67.272 3.24636 0.025657 70.02 rs77720423 yes no Frequency 1 0.000000 0 0.000097 0.000618 0.000060 0.000000 0.000057 0.000034 0.000060 0.000000 0.000163 0.000618 25 13 2 0 1 1 7 0 1 258226 21038 33452 9876 17454 29148 115862 25252 6144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 13 2 0 1 1 7 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.279 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 136.0 . . . . . . . . . . -0.2206 . . . . . . . . 1.330e-03 . . . 0.0040 0.0011 0.0015 0.0003 0.0020 0.0006 0.0017 0.0006 0.0042 0.0010 0.0014 0.0004 0.0013 0.0006 0 0.0006 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.5 0.3 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs77720423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0001 6.132e-05 0 6.316e-05 0 6.94e-05 0.0002 3.431e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs77720423 rs77720423 1 1538 10 1/0 0,215,255 +rs79702103 20 29628415 T A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628415 29628415 Chr20(GRCh37):g.29628415T>A 633+84 633+84 NR_003579.1:n.633+84T>A p.? p.? 5 5 84 5' 82.2818 8.99306 0.977393 0.904114 82.2818 8.99306 0.977393 0.904114 0 New Acceptor Site 29628417 3.71265 0.074701 81.1624 rs79702103 yes no Frequency 1 0.000000 0 transversion T A T>A 0.118 0.367 207 PASS . . . . . . . . . . . . . . . . 0.17741935 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.0016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.46 0.25 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79702103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs79702103 rs79702103 1 1538 10 1/0 0,224,255 +rs79702103 20 29628415 T A - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution downstream GRCh37 29628415 29628415 Chr20(GRCh37):g.29628415T>A *84 *84 NR_132316.1:n.*84T>A p.? p.? 6 189 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.07625 0 New Acceptor Site 29628417 3.71265 0.074701 81.1624 rs79702103 yes no Frequency 1 0.000000 0 transversion T A T>A 0.118 0.367 207 PASS . . . . . . . . . . . . . . . . 0.17741935 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.0016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.46 0.25 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs79702103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . rs79702103 rs79702103 1 1538 10 1/0 0,224,255 +rs78434176 20 29628439 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29628439 29628439 Chr20(GRCh37):g.29628439A>G 633+108 633+108 NR_003579.1:n.633+108A>G p.? p.? 5 5 108 5' 82.2818 8.99306 0.977393 0.904114 82.2818 8.99306 0.977393 0.904114 0 rs78434176 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.360 214 PASS . . . . . . . . . . . . . . . . 0.19767442 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.1738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.22 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs78434176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs78434176 rs78434176 1 1538 10 1/0 0,242,255 +rs78434176 20 29628439 A G - FRG1DP 51763 FSHD region gene 1 family member D, pseudogene NR_132316.1 1 533 0 substitution downstream GRCh37 29628439 29628439 Chr20(GRCh37):g.29628439A>G *108 *108 NR_132316.1:n.*108A>G p.? p.? 6 213 3' 86.7742 IX.41 0.783666 5.07625 86.7742 IX.41 0.783666 5.07625 0 rs78434176 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.360 214 PASS . . . . . . . . . . . . . . . . 0.19767442 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . . . . . . . . . -0.1738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.22 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs78434176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs78434176 rs78434176 1 1538 10 1/0 0,242,255 +rs3954426 20 29630598 A T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630598 29630598 Chr20(GRCh37):g.29630598A>T 634-940 634-940 NR_003579.1:n.634-940A>T p.? p.? 6 5 -940 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs3954426 no no 0 0.000000 0 transversion A T A>T 0.016 0.770 246 PASS . . . . . . . . . . . . . . . . 0.29333332 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 75.0 . . . . . . . . . . -0.1440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.48 0.14 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs3954426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-246 . . . . . . . . . . . . rs3954426 rs3954426 rs3954426 rs3954426 1 1538 10 1/0 0,255,255 +rs73605237 20 29630609 C A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630609 29630609 Chr20(GRCh37):g.29630609C>A 634-929 634-929 NR_003579.1:n.634-929C>A p.? p.? 6 5 -929 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs73605237 no no 0 0.000000 0 transversion C A C>A 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . -0.4241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.43 0.19 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs73605237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs35732268 rs35732268 rs4066187 rs35732268 1 1538 10 1/0 0,255,255 +rs202212672 20 29630649 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630649 29630649 Chr20(GRCh37):g.29630649G>A 634-889 634-889 NR_003579.1:n.634-889G>A p.? p.? 6 5 -889 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 Cryptic Acceptor Strongly Activated 29630660 0.00031 1.19507 0.000186 62.7184 rs202212672 yes no Frequency 1 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000045 0.000022 0.000000 0.000000 0.000045 2 0 0 0 0 1 1 0 0 123774 5896 23624 7882 9846 22448 45242 5326 3510 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 PASS 127 Exomes transition G A G>A 0.047 1.013 255 PASS . . . . . . . . . . . . . . . . 0.36936936 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 111.0 . . . . . . . . . . 0.0343 . . . . . . . . 5.123e-05 . . . 0 9.121e-05 0 0 0 0 0 0.0001 0 9.114e-05 0 0 0 0 0 0.0001 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.16 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs202212672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.616e-05 0 0 0 0 2.21e-05 0 4.455e-05 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs202212672 rs202212672 1 1538 10 1/0 0,244,255 +rs74733909 20 29630666 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630666 29630666 Chr20(GRCh37):g.29630666T>C 634-872 634-872 NR_003579.1:n.634-872T>C p.? p.? 6 5 -872 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs74733909 yes no Frequency 1 0.000000 0 0.000453 0.000000 0.000819 0.000000 0.000000 0.000178 0.000683 0.000340 0.000447 0.000819 70 0 20 0 0 4 41 3 2 154476 14620 24420 8178 11468 22422 60068 8822 4478 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 0 20 0 0 4 41 3 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.37190083 . . @ 45 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . -0.1930 . . . . . . . . 3.714e-04 . . . 0 0.0004 0 0 0 0.0007 0 0.0003 0 0.0003 0 0 0 0.0004 0 0.0003 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.52 0.13 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs74733909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0005 0.0008 0 0 0.0002 0.0008 0.0006 0.0002 0 0.0003 0.0012 0 0 0.0006 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs74733909 rs74733909 1 1538 10 1/0 0,241,255 +rs80344232 20 29630681 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630681 29630681 Chr20(GRCh37):g.29630681G>A 634-857 634-857 NR_003579.1:n.634-857G>A p.? p.? 6 5 -857 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs80344232 yes no Frequency 1 0.000000 0 0.000019 0.000068 0.000041 0.000000 0.000000 0.000045 0.000000 0.000000 0.000000 0.000068 3 1 1 0 0 1 0 0 0 154622 14610 24456 8180 11468 22406 60192 8820 4490 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.682 255 PASS . . . . . . . . . . . . . . . . 0.40151516 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 132.0 . . . . . . . . . . -0.4412 . . . . . . . . 4.288e-04 . . . 0 0.0007 0 0 0 0 0 0.0011 0 0.0007 0 0 0 0 0 0.0011 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.55 0.13 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs80344232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.617e-05 4.233e-05 0 0 0 0 0 4.463e-05 0.0001 3.232e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs80344232 rs80344232 1 1538 10 1/0 0,240,255 +rs73605240 20 29630701 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630701 29630701 Chr20(GRCh37):g.29630701C>T 634-837 634-837 NR_003579.1:n.634-837C>T p.? p.? 6 5 -837 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs73605240 yes no Frequency 1 0.000000 0 transition C T C>T 0.000 -0.924 108 PASS . . . . . . . . . . . UNKNOWN . . . . 0.14285715 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . -0.4383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . unknown . . . . . exonic intronic ncRNA_intronic . . . @ . . . 0.48 0.16 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs73605240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-108 . . . . . . . . . . . . rs521590 rs521590 rs73605240 rs73605240 1 1538 10 1/0 0,224,255 +rs796703292 20 29630718 C T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630718 29630718 Chr20(GRCh37):g.29630718C>T 634-820 634-820 NR_003579.1:n.634-820C>T p.? p.? 6 5 -820 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 Cryptic Acceptor Strongly Activated 29630718 4.95367 0.054045 78.319 V.77 0.081533 77.8333 rs796703292 no no 0 0.000000 0 transition C T C>T 0.000 -1.086 176 PASS . . . . . . . . . . . . . . . . 0.171875 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 128.0 . . . . . . . . . . -0.4153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.54 0.45 182 ENSG00000149531 FRG1B FRG1BP ENST00000479318:c.*11C>T . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs550938 rs550938 . . 1 1538 10 1/0 0,223,255 +rs10084539 20 29630758 C G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630758 29630758 Chr20(GRCh37):g.29630758C>G 634-780 634-780 NR_003579.1:n.634-780C>G p.? p.? 6 5 -780 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs10084539 no no 0 0.000000 0 transversion C G C>G 0.028 -1.247 200 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 126.0 . . . . . . . . . . -0.3906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.53 0.53 182 ENSG00000149531 FRG1B FRG1BP ENST00000479318:c.*51C>G . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs10084539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . rs10084539 rs10084539 rs10084539 rs10084539 1 1538 10 1/0 0,221,255 +rs137900323 20 29630760 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29630760 29630760 Chr20(GRCh37):g.29630760T>C 634-778 634-778 NR_003579.1:n.634-778T>C p.? p.? 6 5 -778 3' 76.2123 7.28726 0.788562 2.79038 76.2123 7.28726 0.788562 2.79038 0 rs137900323 no no 0 0.000000 0 transition T C T>C 0.083 0.851 188 PASS . . . . . . . . . . . . . . . . 0.1300813 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . -0.0668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_intronic . . . @ . . . 0.56 0.57 182 ENSG00000149531 FRG1B FRG1BP ENST00000479318:c.*53T>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs137900323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . rs137900323 rs137900323 1 1538 10 1/0 0,220,255 +rs73598387 20 29632632 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632632 29632632 Chr20(GRCh37):g.29632632A>G 747 747 NR_003579.1:n.747A>G 7 22 3' 93.2901 6.94493 0.814883 0 93.2901 6.94493 0.814883 0 0 rs73598387 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000125 0.000000 0.000000 0.000000 0.000000 0.000000 0.000268 0.000000 0.000173 0.000268 32 0 0 0 0 0 31 0 1 256152 18770 33926 9958 17522 30688 115472 24032 5784 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 0 0 0 0 0 31 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 1.000 0.286 194 PASS . . . . . 0.0008 0.0002 . . . . . FRG1B:uc010ztk.1:exon4:c.A213G:p.Q71Q . . . 0.14375 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 160.0 . . . . . . . . . . 0.9430 . . . . . . . . 2.378e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . 0.0002 . . . 0.54 0.31 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs73598387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.109e-06 0 0 0 0 9.101e-06 0 0 0 0.0024 0 0 0 0 0.0054 0.0029 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . rs71218866 rs71218866 rs71218866 1 1538 10 1/0 0,210,255 +rs375238322 20 29632635 C G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632635 29632635 Chr20(GRCh37):g.29632635C>G 750 750 NR_003579.1:n.750C>G 7 25 3' 93.2901 6.94493 0.814883 0 93.2901 6.94493 0.814883 0 0 rs375238322 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 243474 14580 33550 9758 17218 30710 109920 22296 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 270 Exomes transversion C G C>G 1.000 1.013 192 PASS . . . . . . . . . . . . FRG1B:uc010ztk.1:exon4:c.C216G:p.D72E . . . 0.14012739 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.533 . @ . . . . . 1 0.625 . . 157.0 . . . . . . . . . . -0.1001 -0.215 -0.100 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.118 @ . . . . . . ENSG00000149531 FRG1B FRG1BP . . . 0.999 0.371 . . . . . . . . . 0 . 0.843 . . . . T 0.024 0.001 . . 37 . 0.483 . . 0.420 . . . . 0.398 . . . . . . . . . . . . . . . 0.630 . . . . . . 0 . . 0.472 . . 0.489 . . . . . . 2 0.518 . . . . . 0.140 . 0.688 . LowAF 0.05 rs375238322 . . . . . . . . . . . . 5.1111 . . I.44 -0.392 . 0.110000 Q9BZ01 . . . . . 0.316 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.547 . -0.105 -0.105000 . . 0.110000 . . 9.999999999999999E-193 1.000 0.715 . 0.653 1.000 . 0.264 . 0.281 -0.105 0.646 . . . rs375238322 rs375238322 1 1538 10 1/0 0,210,255 +rs796333808 20 29632660 G T - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632660 29632660 Chr20(GRCh37):g.29632660G>T 775 775 NR_003579.1:n.775G>T 7 50 3' 93.2901 6.94493 0.814883 0 93.2901 6.94493 0.814883 0 0 rs796333808 no no 0 0.000000 0 transversion G T G>T 1.000 3.676 182 PASS . . . . . . . . . . . . FRG1B:uc010ztk.1:exon4:c.G241T:p.E81X . . . 0.11794872 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.989 . @ . . . . . 0 0.743 . . 195.0 . . . . . . . . . . 0.7771 0.504 0.777 c . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain . . . . exonic exonic ncRNA_exonic . . 0.215 @ . . . . . . ENSG00000149531 FRG1B FRG1BP . . . 1.000 0.747 . . . . . . . . . 0 . 0.843 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . 0.343 . . . LowAF 0.08 . . . . . . . . . . . . . VIII.73 . . I.44 I.44 . 0.040000 . . . . . . 0.507 . . . . . . . . . . . . . . . . . . . . . . 0.547 . 1.120 1.120000 . . 0.040000 . . 1.0E-182 1.000 0.715 . 0.562 0.994 . 0.744 . 0.094 1.120 0.676 . . . . . 1 1538 10 1/0 0,199,255 +rs73598388 20 29632673 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632673 29632673 Chr20(GRCh37):g.29632673T>C 788 788 NR_003579.1:n.788T>C 7 -49 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 rs73598388 yes no Frequency 1 0.000000 0 0.000071 0.000000 0.000000 0.000100 0.000000 0.000000 0.000142 0.000000 0.000163 0.000142 19 0 0 1 0 0 17 0 1 266392 22458 34204 9990 18232 30728 119554 25090 6136 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 0 0 1 0 0 17 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.984 2.950 174 PASS . . . . . . . . . . . . FRG1B:uc010ztk.1:exon4:c.T254C:p.L85P . . . 0.101265825 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.769 . @ . . . . . 1 0.960 . . 237.0 . . . . . . . . . . 0.3604 0.234 0.360 c . . . . . 3.170e-05 . . . 0 4.574e-05 0 0 0 0 0 0.0002 0 3.884e-05 0 0 0 0 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV . . . . exonic exonic ncRNA_exonic . . 0.215 @ . . . 0.63 0.42 182 ENSG00000149531 FRG1B FRG1BP . . . 1.000 0.747 . . . . . . . . . 0 . 0.629 . . . . T 0.234 0.009 . . 37 . 0.693 . . 0.696 . . . . 0.810 . . . . . . . . . . . . . . . 0.832 . . . . . . 0 . . 0.899 . . 0.875 . . . . . . 2 0.574 . . . . . 0.237 . 0.799 . LowAF 0 rs73598388 . . . . . . . . . . . . VI.31 . . I.44 I.44 . 0.000000 Q9BZ01 . . . . . 0.457 . . . 0 0 0 0 0 0 0 0 0 0 0.0008 0 0.0044 0 0 0.0018 0.0014 . . 0.547 . 0.925 0.925000 . . 0.000000 . . 1.0E-174 1.000 0.715 . 0.653 0.923 . 0.751 . 0.285 0.925 0.732 . . rs71218867 rs71218867 rs71218867 1 1538 10 1/0 0,189,255 +rs6057187 20 29632707 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29632707 29632707 Chr20(GRCh37):g.29632707G>A 822 822 NR_003579.1:n.822G>A 7 -15 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 rs6057187 yes no Frequency 1 0.000000 0 0.002547 0.000495 0.004894 0.002957 0.002048 0.009251 0.001385 0.000396 0.002077 0.009251 640 11 135 26 35 248 163 10 12 251250 22216 27582 8794 17086 26808 117730 25256 5778 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 640 11 135 26 35 248 163 10 12 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 1.000 1.013 239 PASS . . . . . . . . . . . . FRG1B:uc010ztk.1:exon4:c.G288A:p.E96E . . . 0.26811594 . . @ 74 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 276.0 . . . . . . . . . . 0.7482 . . . . . . . . 2.144e-03 . . . 0.0015 0.0014 0.0002 0.0005 0 0.0023 0.0044 0.0002 0.0015 0.0002 9.091e-05 0 0 0.0002 0.0015 0.0001 synonymous_SNV synonymous_SNV . . . . exonic exonic ncRNA_exonic . . . @ . . . 0.55 0.29 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET . rs6057187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0029 0.0050 0.0031 0.0023 0.0005 0.0016 0.0025 0.0093 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs6057187 rs6057187 rs6057187 rs6057187 1 1538 10 1/0 0,198,255 +rs144938385 20 29632749 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29632749 29632749 Chr20(GRCh37):g.29632749A>G 836+28 836+28 NR_003579.1:n.836+28A>G p.? p.? 7 7 28 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 Cryptic Acceptor Weakly Activated 29632757 5.42663 0.58684 85.7742 V.55 0.681421 85.7742 rs144938385 yes no Frequency 1 0.000000 0 0.000039 0.000000 0.000099 0.000110 0.000000 0.000109 0.000009 0.000000 0.000195 0.000110 9 0 3 1 0 3 1 0 1 230172 14038 30372 9112 16418 27398 105720 21976 5138 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 3 1 0 3 1 0 1 0 0 0 0 0 0 0 0 0 RF 261 Exomes transition A G A>G 0.252 0.286 185 PASS . . . . . . . . . . . . . . . . 0.124 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 250.0 . . . . . . . . . . -0.0921 . . . . . . . . 7.203e-05 . . . 0 3.483e-05 0 0 0 5.074e-05 0.0015 0 0 0 0 0 0 0 0 0 . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.56 0.21 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs144938385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.91e-05 9.878e-05 0.0001 0 0 9.459e-06 0.0002 0.0001 . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . rs144938385 rs144938385 1 1538 10 1/0 0,189,255 +rs111700236 20 29632751 T C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29632751 29632751 Chr20(GRCh37):g.29632751T>C 836+30 836+30 NR_003579.1:n.836+30T>C p.? p.? 7 7 30 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 rs111700236 no no 0 0.000000 0 transition T C T>C 0.189 -0.117 184 PASS . . . . . . . . . . . . . . . . 0.12145749 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 247.0 . . . . . . . . . . -0.1886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.52 0.27 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs111700236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . rs111700236 rs111700236 1 1538 10 1/0 0,189,255 +rs12162440 20 29632792 C G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution intron GRCh37 29632792 29632792 Chr20(GRCh37):g.29632792C>G 836+71 836+71 NR_003579.1:n.836+71C>G p.? p.? 7 7 71 5' 77.2234 6.52465 0.87774 0 77.2234 6.52465 0.87774 0 0 rs12162440 no no 0 0.000000 0 transversion C G C>G 0.512 0.448 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 195.0 . . . . . . . . . . 0.0158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . 0.54 0.27 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs12162440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . rs12162440 rs12162440 rs12162440 rs12162440 1 1538 10 1/0 0,201,255 +rs60081496 20 29633900 A G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29633900 29633900 Chr20(GRCh37):g.29633900A>G 839 839 NR_003579.1:n.839A>G 8 3 3' 72.67 2.49874 0.002898 0 72.67 2.22181 0.001533 0 -0.193947 rs60081496 yes no Frequency 1 0.000000 0 0.000306 0.000066 0.000543 0.000107 0.000060 0.000803 0.000252 0.000046 0.000190 0.000803 72 1 17 1 1 23 27 1 1 235406 15062 31320 9374 16572 28642 107246 21926 5264 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 72 1 17 1 1 23 27 1 1 0 0 0 0 0 0 0 0 0 RF 132 Exomes transition A G A>G 1.000 1.093 224 PASS . . . . . . . . . . . . . . . . 0.22580644 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.393 . @ . . . . . 1 0.306 . . 124.0 . . . . . . . . . . 0.7101 0.429 0.710 c . . . . . 4.169e-03 . . . 0.0013 0.0030 0.0019 0.0024 0.0013 0.0045 0.0044 0.0016 0.0012 0.0020 0.0018 0.0012 0.0009 0.0025 0 0.0016 nonsynonymous_SNV . . . . . exonic intronic ncRNA_exonic . . 0.227 @ . . . 0.55 0.22 182 ENSG00000149531 FRG1B FRG1BP . . . 1.000 0.517 . . . . . . . . . 0 . . . . . . T 0.073 0.003 . . 37 . 0.409 . . 0.363 . . . . 0.209 . . . . . . . . . . . . . . . 0.373 . . . . . . 0 . . . . . . . . . . . . 1 0.120 . . . . . 0.254 . 0.494 . HET 0.16 rs60081496 . . . . . . . . . . . . VII.88 . . I.62 I.62 . 0.000000 . . . . . . 0.416 . . . 6.639e-05 0.0003 0.0005 0.0001 6.034e-05 4.561e-05 0.0003 0.0002 0.0008 . . . . . . . . . . 0.547 . 0.995 0.995000 . . 0.000000 . . 1.0E-224 1.000 0.715 . 0.456 0.992 . 0.611 . 0.293 0.995 0.780 . rs4006819 rs4006819 rs60081496 rs60081496 1 1538 10 1/0 0,228,255 +. 20 29633966 GTTT G - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 deletion exon GRCh37 29633974 29633976 Chr20(GRCh37):g.29633974_29633976del 913 915 NR_003579.1:n.913_915del 8 77 3' 72.67 2.49874 0.002898 0 72.67 2.49874 0.002898 0 0 rs61684852 no no 0 0.000000 0 TTT 255 Pass . . . . . . . . . . . . . . . . 0.7847222 . . . 113 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_exonic . . . . . . . . . . ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs61684852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4010960 rs4010960 rs61684852 rs61684852 1 1538 10 1.I 0,8,11 +rs2379676 20 29633986 A C - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution exon GRCh37 29633986 29633986 Chr20(GRCh37):g.29633986A>C 925 925 NR_003579.1:n.925A>C 8 89 3' 72.67 2.49874 0.002898 0 72.67 2.49874 0.002898 0 0 Cryptic Acceptor Strongly Activated 29633994 1.29991 8.6e-05 65.6908 1.95156 0.001299 69.0607 rs2379676 yes no Frequency/1000G 2 0.000000 0 0.486422 0.493200 0.496900 0.468300 0.482100 0.491400 transversion A C A>C 1.000 2.062 239 PASS . . . . . 0.49 0.49 0.49 0.47 0.48 0.5 . . . . . 0.26923078 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 130.0 . . . . . . . . . . 0.5038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic ncRNA_exonic . . . 0.4864 . . . 0.62 0.61 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs2379676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . . rs2379676 rs2379676 rs2379676 rs2379676 1 1538 10 1/0 0,231,255 +rs4006816 20 29634037 G A - FRG1BP 15792 FSHD region gene 1 family member B, pseudogene NR_003579.1 1 946 0 substitution downstream GRCh37 29634037 29634037 Chr20(GRCh37):g.29634037G>A *30 *30 NR_003579.1:n.*30G>A p.? p.? 8 140 3' 72.67 2.49874 0.002898 0 72.67 2.49874 0.002898 0 0 rs4006816 yes no Frequency 1 0.000000 0 transition G A G>A 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.3263158 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . . . . . . . . . -0.1758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream intronic downstream . . . @ . . . 0.51 0.33 182 ENSG00000149531 FRG1B FRG1BP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4006816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4006816 rs4006816 rs4006816 rs4006816 1 1538 10 1/0 0,250,255 +rs376631284 (chr20:29652169 C/A) 20 29652169 C A Not on a known gene +rs35182221 20 30437726 C T - DUSP15 16236 Dual specificity phosphatase 15 NM_001320479.1 -1 1732 888 NP_001307408.1 Q9H1R2 substitution intron GRCh37 30437726 30437726 Chr20(GRCh37):g.30437726C>T 492-49 492-49 NM_001320479.1:c.492-49G>A p.? p.? 8 7 616776 -49 3' 77.847 XI.36 0.932645 XII.08 77.847 XI.36 0.932645 XI.73 0 rs35182221 yes no Frequency/1000G 2 C 0.000000 0 0.000998 0.000000 0.002000 0.000000 0.003000 0.000000 0.000851 0.000181 0.000193 0.000000 0.000000 0.000842 0.001283 0.001468 0.001686 0.001468 69 2 2 0 0 5 49 7 4 81066 11038 10344 988 7436 5938 38180 4770 2372 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 69 2 2 0 0 5 49 7 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 3915 1700 5615 3 0 3 0.000765697 0 0.000533998 0.000765697 0 0.000533998 5 transition G A G>A 0.000 -0.763 255 PASS . 0.0023 . . 0.01 . 0.001 . . 0.003 0.002 . . . . . 0.60227275 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 88.0 . . UPSTREAM(MODIFIER||||FOXS1|mRNA|CODING|NM_004118|) . 0.0005 0.0008 . 0.0005 0.0008 . -0.0058 . . . . . . . . 7.927e-04 . . . 0 0.0018 0.0010 0 0.0056 0.0028 0 0.0014 0 0.0027 0.0010 0 0.0031 0.0037 0.0263 0.0014 . . . . . . intronic intronic intergenic . . . 0.0010 . . . 0.35 0.46 182 ENSG00000149599 DUSP15 . . . dist\x3d4306\x3bdist\x3d11144 . . . 51 0.000784905 64976 46 0.000766846 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs35182221 . . . . . . . . . . . . . . . . . . . . . . . 0.000534 . . . . . 0.0004 0.0009 0.0002 0 0 0.0024 0.0014 0.0022 0.0008 0.0001 0.0007 0 0 0 0.0011 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 rs35182221 rs35182221 rs35182221 rs35182221 1 1538 10 1/0 0,255,255 +rs536823410 20 30525417 G A - TTLL9 16118 Tubulin tyrosine ligase like 9 NM_001008409.3 1 3584 1320 NP_001008409.1 Q3SXZ7 substitution intron GRCh37 30525417 30525417 Chr20(GRCh37):g.30525417G>A 1118+105 1118+105 NM_001008409.3:c.1118+105G>A p.? p.? 13 13 105 5' 87.5642 8.40856 0.98539 7.17713 87.5642 8.40856 0.98539 7.17713 0 rs536823410 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.002000 0.000000 0.000000 0.000000 0.000355 0.000229 0.000000 0.000000 0.000000 0.000000 0.000600 0.000000 0.000000 0.000600 11 2 0 0 0 0 9 0 0 30960 8728 838 302 1622 0 14994 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 2 0 0 0 0 9 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 1.981 255 PASS . . . . . . 0.0004 . . . 0.002 . . . . . 0.4 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . INTRON(MODIFIER||||TTLL9|mRNA|CODING|NM_001008409|) . . . . . . . 0.2718 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . . . . ENSG00000131044 TTLL9 TTLL9 . . . . . . 19 0.000292416 64976 17 0.000283399 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs536823410 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833952 . . . . . 3.VIII . . . . . . . . . 0.0002 0.0004 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs149889663 20 31596430 T A - BPIFB2 16177 BPI fold containing family B, member 2 NM_025227.2 1 1920 1377 NP_079503.1 Q8N4F0 substitution missense exon GRCh37 31596430 31596430 Chr20(GRCh37):g.31596430T>A 50 50 NM_025227.2:c.50T>A p.Val17Glu p.Val17Glu 2 614108 -60 5' 85.0005 9.88537 0.996679 7.07445 85.0005 9.88537 0.996679 7.22771 0 Cryptic Donor Strongly Activated 31596431 0.888704 0.002914 68.4711 5.43728 0.162845 76.9822 rs149889663 yes no Frequency/1000G 2 T 0.000000 0 0.003794 0.000800 0.003100 0.000000 0.010900 0.005800 0.005283 0.001454 0.003727 0.010649 0.000055 0.003509 0.006167 0.010078 0.007427 0.010649 1390 33 125 105 1 102 739 239 46 263118 22702 33538 9860 18202 29072 119834 23716 6194 0.000091 0.000000 0.000119 0.000000 0.000000 0.000069 0.000117 0.000169 0.000000 12 0 2 0 0 1 7 2 0 1366 33 121 105 1 100 725 235 46 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8543 4401 12944 57 3 60 0.00662791 0.000681199 0.00461396 0.00662791 0.000681199 0.00461396 38 transversion T A T>A 0.000 -0.117 V Val GTG 0.468 E Glu GAG 0.583 17 11 9 Dog -3 -2 -4 0 0.92 5.IX 12.III 84 83 121 C0 353.86 0.00 Deleterious 0 IV.32 bad 1.377E-5 0.0001772 255 PASS . 0.0046 . . 0.01 0.0008 0.0038 0.0058 . 0.011 0.0031 ENSG00000078898:ENST00000170150:exon2:c.T50A:p.V17E BPIFB2:uc002wyj.4:exon2:c.T50A:p.V17E BPIFB2:NM_025227:exon2:c.T50A:p.V17E . . 0.6015625 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.315 . @ . . . . . 1 0.314 . . 128.0 . . . 0.0007 0.0046 0.0066 0.0007 0.0046 0.0066 . -0.9219 -0.988 -0.922 c . . . . . 4.768e-03 . . . 0.0017 0.0083 0.0054 0 0.0242 0.0117 0.0101 0.0054 0.0014 0.0081 0.0051 0 0.0226 0.0107 0.0084 0.0055 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.012 . . exonic exonic exonic . . 0.114 0.0038 . . . 0.26 0.63 182 ENSG00000078898 BPIFB2 BPIFB2 . . . 1.000 0.747 . 468 0.00720266 64976 449 0.00748508 59986 Likely_benign . 0 . 0.019 . . . . . . . . . 37 . 0.009 . . 0.452 . . . 0.530 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.395 . . 0 0 0 0 0 0 . 0.263 . . 0.220 . . . . . . 0 0.296 . . . . . 0.059 . 0.407 . HET 0.15 rs149889663 0.022 0.014 . . . . . 0.004578754578754579 0.0 0.0 0.0 0.013192612137203167 3.1072 2.68E-4 ENST00000170150 IV.37 -0.49 . 0.090000 Q8N4F0 . . . 0.004614 . 0.143 . . . 0.0014 0.0054 0.0037 0.0108 6.031e-05 0.0098 0.0063 0.0071 0.0035 0.0015 0.0047 0.0048 0.0066 0 0.0114 0.0052 0.0092 . . 0.283 . -0.105 -0.105000 . . 0.090000 . . 1.0E-255 0.000 0.063 . 0.100 0.010 . 0.070 . 0.752 -0.105 0.673 0.022 . . rs149889663 rs149889663 1 1538 10 1/0 0,246,245 +rs55823624 20 31643355 T C - BPIFB3 16178 BPI fold containing family B, member 3 NM_182658.2 1 1556 1431 NP_872599.1 P59826 substitution splice site GRCh37 31643355 31643355 Chr20(GRCh37):g.31643355T>C 124+2 124+2 NM_182658.2:c.124+2T>C p.? p.? 1 1 615717 2 5' 89.5524 9.59704 0.995199 XI.11 80.0669 0 0 0 -0.701974 rs55823624 yes no Frequency/1000G 2 T 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.002000 0.001400 0.001190 0.000375 0.000523 0.000000 0.000000 0.001007 0.002055 0.000198 0.000929 0.002055 329 9 18 0 0 31 260 5 6 276394 24020 34418 10150 18864 30780 126500 25206 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 329 9 18 0 0 31 260 5 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8579 4404 12983 21 2 23 0.00244186 0.000453926 0.00176841 0.00244186 0.000453926 0.00176841 70 transition T C T>C 1.000 2.304 255 PASS . 0. . . . . 0.0008 0.0014 . 0.002 0.001 . . . . . 0.41666666 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.602 . @ . . . . . 0 0.474 . . 120.0 . . . 0.0005 0.0018 0.0024 0.0005 0.0018 0.0024 . 0.9459 0.765 0.946 c . . . . . 1.073e-03 . . . 0.0003 0.0010 0.0004 0 0 0.0017 0.0014 0.0005 0.0002 0.0010 0.0004 0 0.0003 0.0016 0.0014 0.0005 . . . . . . splicing splicing splicing . . 0.584 0.0008 . . . 0.48 0.47 182 ENSG00000186190 BPIFB3 BPIFB3 ENST00000375494:exon1:c.124+2T>C uc002wym.1:exon1:c.124+2T>C NM_182658:exon1:c.124+2T>C 0.006 0.110 . 118 0.00181606 64976 114 0.00190044 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . 0.437 . . . HET . rs55823624 . . . . . . . 0.0 0.0 0.0 0.0 0.0 X.83 5.35E-4 ENST00000375494 IV.69 IV.69 . . . 0.9999 0.858 . 0.001768 . 0.369 . . IV.69 0.0003 0.0012 0.0005 0 0 0.0002 0.0021 0.0011 0.0010 0.0006 0.0012 0.0012 0 0 0 0.0021 0 . . 0.004 . 1.974 1.974000 . . . . . 1.0E-255 1.000 0.715 . 0.574 0.990 . 0.520 . 0.759 1.974 0.991 0.0024 rs55823624 rs55823624 rs55823624 rs55823624 1 1538 10 1/0 0,247,255 +rs186635468 20 32376652 G A - ZNF341 15992 Zinc finger protein 341 NM_001282933.1 1 3579 2565 NP_001269862.1 Q9BYN7 substitution intron GRCh37 32376652 32376652 Chr20(GRCh37):g.32376652G>A 1853-17 1853-17 NM_001282933.1:c.1853-17G>A p.? p.? 13 12 -17 3' 88.3014 XII.07 0.968951 XII.78 88.3014 11.534 0.973179 12.0514 -0.0301173 rs186635468 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.002000 0.004300 0.003707 0.001010 0.003500 0.001688 0.000000 0.000327 0.005934 0.002994 0.004198 0.005934 1021 24 120 17 0 10 746 77 27 275418 23762 34282 10074 18806 30622 125718 25722 6432 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1013 24 120 17 0 10 738 77 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8555 4400 12955 45 6 51 0.00523256 0.00136178 0.00392127 0.00523256 0.00136178 0.00392127 60 transition G A G>A 0.000 -1.247 255 PASS 0.002 0.0023 0.01 . 0.0026 0.0008 0.0012 0.0043 . 0.002 . . ZNF341:uc002wzz.3:exon1:c.G117A:p.L39L . . . 0.3939394 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . 0.0014 0.0039 0.0052 0.0014 0.0039 0.0052 . -0.0101 . . . . . . . . 3.623e-03 . . . 0.0016 0.0040 0.0034 0 0.0032 0.0068 0.0069 0.0003 0.0016 0.0042 0.0031 0 0.0035 0.0067 0.0071 0.0003 . synonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . 0.0012 . . . 0.25 0.34 182 ENSG00000230753 ZNF341 ZNF341-AS1 . . . . . . 342 0.00526348 64976 336 0.00560131 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186635468 . . . . . . . . . . . . . . . . . . . . . . . 0.003921 . . . . . 0.0010 0.0037 0.0035 0.0017 0 0.0026 0.0059 0.0044 0.0003 0.0010 0.0040 0.0036 0 0 0.0054 0.0059 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs186635468 rs186635468 1 1538 10 1/0 0,255,255 +rs186635468 20 32376652 G A - ZNF341-AS1 50736 ZNF341 antisense RNA 1 NR_110623.1 -1 646 0 substitution intron GRCh37 32376652 32376652 Chr20(GRCh37):g.32376652G>A 242-1069 242-1069 NR_110623.1:n.242-1069C>T p.? p.? 4 3 -1069 3' 84.299 9.01946 0.796273 7.26857 84.299 9.01946 0.796273 7.26857 0 rs186635468 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000800 0.000000 0.000000 0.002000 0.004300 0.003707 0.001010 0.003500 0.001688 0.000000 0.000327 0.005934 0.002994 0.004198 0.005934 1021 24 120 17 0 10 746 77 27 275418 23762 34282 10074 18806 30622 125718 25722 6432 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000064 0.000000 0.000000 4 0 0 0 0 0 4 0 0 1013 24 120 17 0 10 738 77 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8555 4400 12955 45 6 51 0.00523256 0.00136178 0.00392127 0.00523256 0.00136178 0.00392127 60 transition C T C>T 0.000 -1.247 255 PASS 0.002 0.0023 0.01 . 0.0026 0.0008 0.0012 0.0043 . 0.002 . . ZNF341:uc002wzz.3:exon1:c.G117A:p.L39L . . . 0.3939394 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . 0.0014 0.0039 0.0052 0.0014 0.0039 0.0052 . -0.0101 . . . . . . . . 3.623e-03 . . . 0.0016 0.0040 0.0034 0 0.0032 0.0068 0.0069 0.0003 0.0016 0.0042 0.0031 0 0.0035 0.0067 0.0071 0.0003 . synonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . 0.0012 . . . 0.25 0.34 182 ENSG00000230753 ZNF341 ZNF341-AS1 . . . . . . 342 0.00526348 64976 336 0.00560131 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs186635468 . . . . . . . . . . . . . . . . . . . . . . . 0.003921 . . . . . 0.0010 0.0037 0.0035 0.0017 0 0.0026 0.0059 0.0044 0.0003 0.0010 0.0040 0.0036 0 0 0.0054 0.0059 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs186635468 rs186635468 1 1538 10 1/0 0,255,255 +. 20 33514715 T C - ACSS2 15814 Acyl-CoA synthetase short-chain family member 2 NM_001076552.2 1 3018 2145 NP_001070020.2 substitution missense exon GRCh37 33514715 33514715 Chr20(GRCh37):g.33514715T>C 1978 1978 NM_001076552.2:c.1978T>C p.Tyr660His p.Tyr660His 18 605832 36 3' 87.3226 5.44214 0.474052 4.70882 87.3226 5.44214 0.474052 4.97881 0 Cryptic Acceptor Strongly Activated 33514713 2.35103 0.023509 73.7567 3.28856 0.040714 73.7567 transition T C T>C 1.000 4.887 Y Tyr TAC 0.562 H His CAC 0.587 660 12 8 Zebrafish 2 2 3 0.2 0.58 6.II 10.IV 136 96 83 C15 57.46 72.81 Tolerated 0.1 III.41 bad 3.586E-3 0.1522 255 PASS . . . . . . . . . . . . . . . . 0.48447204 . . @ 78 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.597 . @ . . . . . 1 0.375 . . 161.0 . . . . . . . . . . -0.0105 0.189 -0.010 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.568 . . exonic exonic exonic . . 0.696 @ . . . . . . ENSG00000131069 ACSS2 ACSS2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . T 0.408 0.019 . . 37 . 0.414 . . 0.250 . . . 0.086 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.513 . . 0 0 0 0 0 0 . 0.144 . . 0.190 . . . . . . 1 0.165 . . . . . 0.718 . 0.638 . HET 0.23 . . . . . . . . . . . . . 15.0968 . . V.13 V.13 . 0.180000 . . . Name\x3dnsv912860 . . 0.700 . . V.13 . . . . . . . . . . . . . . . . . . . 0.609 . 2.146 2.146000 . . 0.180000 . . 1.0E-255 1.000 0.715 . 0.587 0.998 . 0.842 . 0.661 2.146 0.991 . . . . . 1 1538 10 1/0 0,237,254 +. 20 33514715 T C - GSS 4624 Glutathione synthetase NM_000178.3 -1 1919 1425 NP_000169.1 P48637 substitution downstream GRCh37 33514715 33514715 Chr20(GRCh37):g.33514715T>C *1916 *1916 NM_000178.3:c.*1916A>G p.? p.? 13 601002 2040 3' 83.4058 8.82172 0.993008 8.28265 83.4058 8.82172 0.993008 8.28265 0 transition A G A>G 1.000 4.887 255 PASS . . . . . . . . . . . . . . . . 0.48447204 . . @ 78 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.597 . @ . . . . . 1 0.375 . . 161.0 . . . . . . . . . . -0.0105 0.189 -0.010 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.568 . . exonic exonic exonic . . 0.696 @ . . . . . . ENSG00000131069 ACSS2 ACSS2 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . T 0.408 0.019 . . 37 . 0.414 . . 0.250 . . . 0.086 0.810 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.513 . . 0 0 0 0 0 0 . 0.144 . . 0.190 . . . . . . 1 0.165 . . . . . 0.718 . 0.638 . HET 0.23 . . . . . . . . . . . . . 15.0968 . . V.13 V.13 . 0.180000 . . . Name\x3dnsv912860 . . 0.700 . . V.13 . . . . . . . . . . . . . . . . . . . 0.609 . 2.146 2.146000 . . 0.180000 . . 1.0E-255 1.000 0.715 . 0.587 0.998 . 0.842 . 0.661 2.146 0.991 . . . . . 1 1538 10 1/0 0,237,254 +rs13040287 20 33588702 G C - MYH7B 15906 Myosin, heavy chain 7B, cardiac muscle, beta NM_020884.4 1 6584 5952 NP_065935.3 substitution intron GRCh37 33588702 33588702 Chr20(GRCh37):g.33588702G>C 5430+6 5430+6 NM_020884.4:c.5430+6G>C p.? p.? 40 40 609928 6 5' 74.9492 4.1739 0.15877 8.89532 74.1894 4.71529 0.299282 8.25608 0.334859 Cryptic Donor Strongly Activated 33588696 4.1739 0.15877 74.9492 4.71529 0.299282 74.1894 rs13040287 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000045 0.000000 0.000045 4 0 0 0 0 0 3 1 0 243492 15266 33434 9610 17220 30384 110180 21988 5410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 85 Exomes transversion G C G>C 0.213 -0.037 213 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . I.26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.23 182 ENSG00000078814 MYH7B MYH7B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs13040287 . . . . . . . . . . . . . . . . . . . . 0.0001 0.056 . . . . . . . 0 1.643e-05 0 0 0 4.548e-05 2.723e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs13040287 rs13040287 rs13040287 rs13040287 1 1538 10 1/0 0,255,255 +rs13040287 20 33588702 G C - TRPC4AP 16181 Transient receptor potential cation channel, subfamily C, member 4 associated protein NM_015638.2 -1 3170 2394 NP_056453.1 Q8TEL6 substitution downstream GRCh37 33588702 33588702 Chr20(GRCh37):g.33588702G>C *2247 *2247 NM_015638.2:c.*2247C>G p.? p.? 19 608430 2385 3' 81.8762 8.72615 0.867811 8.64476 81.8762 8.72615 0.867811 8.64476 0 rs13040287 yes no Frequency 1 G 0.000000 0 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000045 0.000000 0.000045 4 0 0 0 0 0 3 1 0 243492 15266 33434 9610 17220 30384 110180 21988 5410 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 85 Exomes transversion C G C>G 0.213 -0.037 213 PASS . . . . . . . . . . . . . . . . 0.13461539 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 52.0 . . . . . . . . . . I.26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.57 0.23 182 ENSG00000078814 MYH7B MYH7B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . LowAF . rs13040287 . . . . . . . . . . . . . . . . . . . . 0.0001 0.056 . . . . . . . 0 1.643e-05 0 0 0 4.548e-05 2.723e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . rs13040287 rs13040287 rs13040287 rs13040287 1 1538 10 1/0 0,255,255 +rs759302085 20 34146652 C T - ERGIC3 15927 ERGIC and golgi 3 NM_198398.1 1 1366 1167 NP_938408.1 substitution downstream GRCh37 34146652 34146652 Chr20(GRCh37):g.34146652C>T *1377 *1377 NM_198398.1:c.*1377C>T p.? p.? 14 616971 1457 3' 84.0123 8.11092 0.686084 5.01518 84.0123 8.11092 0.686084 5.01518 0 rs759302085 yes no Frequency 1 C 0.000000 0 0.000251 0.000067 0.000529 0.000240 0.000000 0.000000 0.000266 0.000227 0.001081 0.000529 41 1 13 2 0 0 18 2 5 163026 14890 24570 8338 11536 22548 67690 8830 4624 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 1 13 2 0 0 18 2 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.992 0.528 255 PASS . . . . . . . . . . . . FER1L4:uc002xcx.3:exon7:c.G971A:p.R324H . . . 0.46551725 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . 1.0989 . . . . . . . . 8.287e-05 . . . 0 0.0002 0 0 0 0.0006 0 0 0 9.181e-05 0 0 0 0.0004 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000088340 FER1L4 FER1L4 . . . . . . 7 0.000107732 64976 7 0.000116694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0.05 rs759302085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0005 0.0002 0 0.0002 0.0003 0.0014 0 0.0001 0.0002 0.0012 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +rs759302085 20 34146652 C T - FER1L4 15801 Fer-1-like 4 (C. elegans), pseudogene XR_248924.1 -1 6743 0 substitution exon GRCh37 34146652 34146652 Chr20(GRCh37):g.34146652C>T 6598 6598 XR_248924.1:n.6598G>A 45 171 3' 82.1479 8.61321 0.887266 X.75 82.1479 8.61321 0.887266 X.75 0 rs759302085 yes no Frequency 1 C 0.000000 0 0.000251 0.000067 0.000529 0.000240 0.000000 0.000000 0.000266 0.000227 0.001081 0.000529 41 1 13 2 0 0 18 2 5 163026 14890 24570 8338 11536 22548 67690 8830 4624 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 41 1 13 2 0 0 18 2 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.992 0.528 255 PASS . . . . . . . . . . . . FER1L4:uc002xcx.3:exon7:c.G971A:p.R324H . . . 0.46551725 . . @ 54 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 116.0 . . . . . . . . . . 1.0989 . . . . . . . . 8.287e-05 . . . 0 0.0002 0 0 0 0.0006 0 0 0 9.181e-05 0 0 0 0.0004 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000088340 FER1L4 FER1L4 . . . . . . 7 0.000107732 64976 7 0.000116694 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 2 . . . . . . . . . . HET 0.05 rs759302085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0005 0.0002 0 0.0002 0.0003 0.0014 0 0.0001 0.0002 0.0012 0 0 0.0003 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 20 34809763 C T - EPB41L1 3378 Erythrocyte membrane protein band 4.1-like 1 NM_012156.2 1 6276 2646 NP_036288.2 Q9H4G0 substitution intron GRCh37 34809763 34809763 Chr20(GRCh37):g.34809763C>T 2440-23 2440-23 NM_012156.2:c.2440-23C>T p.? p.? 20 19 602879 -23 3' 84.9367 XII.32 0.956542 13.9435 84.9367 XII.32 0.956542 13.6243 0 34809766 -13.8503 transition C T C>T 0.055 0.125 255 PASS . . . . . . . . . . . . . . . . 0.45454547 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 77.0 . . . . . . . . . . 0.5737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000088367 EPB41L1 EPB41L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs114092633 20 35128780 C T - DLGAP4 24476 Discs, large (Drosophila) homolog-associated protein 4 NM_014902.5 1 5069 2970 NP_055717.2 substitution missense exon GRCh37 35128780 35128780 Chr20(GRCh37):g.35128780C>T 2269 2269 NM_014902.5:c.2269C>T p.Arg757Cys p.Arg757Cys 10 616191 179 3' 75.0596 8.94922 0.332457 VIII.81 75.0596 8.94922 0.332457 VIII.81 0 Guanylate-kinase-associated protein rs114092633 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000000 0.001000 0.000000 0.002000 0.001400 0.000917 0.000333 0.000896 0.000000 0.000000 0.001174 0.001259 0.000392 0.001595 0.001259 249 8 30 0 0 35 156 10 10 271448 24000 33490 9614 18762 29822 123956 25534 6270 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 249 8 30 0 0 35 156 10 10 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8592 4406 12998 8 0 8 0.000930233 0 0.000615101 0.000930233 0 0.000615101 61 transition C T C>T 1.000 2.627 R Arg CGC 0.190 C Cys TGC 0.552 757 12 8 Frog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Deleterious 0.01 III.62 255 PASS . 0.0014 0.0028 . 0.0026 . 0.0008 0.0014 . 0.002 0.001 . . . . . 0.35099337 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.528 . @ . . . . . 1 0.843 . . 151.0 . . . . 0.0006 0.0009 . 0.0006 0.0009 . -0.0431 0.146 -0.043 c . . . . . 8.998e-04 . . . 0.0003 0.0010 0.0021 0 0.0008 0.0010 0.0044 0.0011 0.0002 0.0009 0.0021 0 0.0006 0.0008 0.0030 0.0011 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.173 . . exonic exonic exonic . . 0.568 0.0008 . . . 0.71 0.23 182 ENSG00000080845 DLGAP4 DLGAP4 . . . 1.000 0.747 . 52 0.000800296 64976 48 0.000800187 59986 Uncertain_significance . 0 . 0.629 . . . . T 0.179 0.007 . . 37 . 0.149 . . 0.040 . . . 0.163 0.508 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.412 . . 0 0 0 0 0 0 . 0.215 . . 0.214 . . . . . . 0 0.491 . . . . . 0.601 . 0.852 . HET 0 rs114092633 0.011 0.007 . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 13.3921 2.68E-4 . V.62 IV.62 . 0.050000 . . . Name\x3dnsv833967 0.000615 . 0.706 . . IV.62 0.0005 0.0009 0.0009 0 0 0.0004 0.0011 0.0019 0.0012 0.0001 0.0011 0.0012 0 0 0.0003 0.0021 0 . . 0.442 . 2.659 2.659000 . . 0.050000 . . 1.0E-255 1.000 0.715 . 0.888 1.000 . 0.437 . 0.167 2.659 0.871 0.011 . . rs114092633 rs114092633 1 1538 10 1/0 0,232,255 +rs116880576 20 36678309 C T - RPRD1B 16209 Regulation of nuclear pre-mRNA domain containing 1B NM_021215.3 1 3872 981 NP_067038.1 Q9NQG5 substitution intron GRCh37 36678309 36678309 Chr20(GRCh37):g.36678309C>T 415+1426 415+1426 NM_021215.3:c.415+1426C>T p.? p.? 3 3 614694 1426 5' 72.1322 VI.95 0.907555 3.11065 72.1322 VI.95 0.907555 3.11065 0 Cryptic Acceptor Strongly Activated 36678329 3.364 0.002078 70.453 4.37729 0.003511 70.453 rs116880576 yes no Frequency/1000G 2 C 0.000000 0 0.001398 0.000000 0.002000 0.000000 0.004000 0.001400 0.002034 0.000229 0.000000 0.023179 0.000000 0.000000 0.003398 0.000286 0.002037 0.023179 63 2 0 7 0 0 51 1 2 30970 8728 838 302 1618 0 15010 3492 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 2 0 7 0 0 51 1 2 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.839 2.465 255 PASS . 0.0018 0.0028 . 0.004 . 0.0014 0.0014 . 0.004 0.002 . . . . . 0.45 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . INTRON(MODIFIER||||RPRD1B|mRNA|CODING|NM_021215|) . . . . . . . 0.8594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0014 . . . 0.43 0.16 182 ENSG00000101413 RPRD1B RPRD1B . . . . . . 146 0.00224698 64976 139 0.00231721 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs116880576 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . III.84 . . . . . . . . . 0.0002 0.0020 0 0.0232 0 0.0003 0.0034 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs116880576 rs116880576 1 1538 10 1/0 0,255,255 +rs2232597 20 36989391 G A - LBP 6517 Lipopolysaccharide binding protein NM_004139.4 1 1894 1446 NP_004130.2 P18428 substitution missense exon GRCh37 36989391 36989391 Chr20(GRCh37):g.36989391G>A 622 622 NM_004139.4:c.622G>A p.Asp208Asn p.Asp208Asn 6 151990 -31 5' 84.5905 9.78584 0.903754 3.27769 84.5905 9.78584 0.903754 2.75682 0 Lipid-binding serum glycoprotein, N-terminal rs2232597 yes no Frequency/1000G 2 G 0.000000 0 0.005591 0.000000 0.018400 0.000000 0.008000 0.002900 0.007061 0.000750 0.004884 0.003743 0.000106 0.027817 0.005525 0.004381 0.009598 0.027817 1957 18 168 38 2 856 700 113 62 277152 24016 34398 10152 18866 30772 126696 25792 6460 0.000209 0.000000 0.000058 0.000000 0.000000 0.001625 0.000016 0.000000 0.000619 29 0 1 0 0 25 1 0 2 1899 18 166 38 2 806 698 113 58 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8545 4401 12946 55 5 60 0.00639535 0.00113482 0.00461326 0.00639535 0.00113482 0.00461326 172 transition G A G>A 0.008 -0.198 D Asp GAT 0.461 N Asn AAT 0.464 208 12 9 C. elegans 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 101.46 0.00 Tolerated 0.13 II.97 255 PASS . 0.0027 0.0028 . 0.01 . 0.0056 0.0029 . 0.008 0.018 ENSG00000129988:ENST00000217407:exon6:c.G622A:p.D208N LBP:uc002xic.2:exon6:c.G622A:p.D208N LBP:NM_004139:exon6:c.G622A:p.D208N . . 0.4651163 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.093 . @ . . . . . 1 0.100 . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D208N|LBP|mRNA|CODING|NM_004139|NM_004139.ex.6) 0.0011 0.0046 0.0064 0.0011 0.0046 0.0064 . -1.3347 -1.392 -1.335 c . . . . . 7.687e-03 . . . 0.0008 0.0092 0.0067 0 0.0045 0.0064 0.0098 0.0275 0.0008 0.0081 0.0069 0.0001 0.0039 0.0053 0.0144 0.0274 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.046 . . exonic exonic exonic . . 0.077 0.0056 . . . 0.17 0.16 182 ENSG00000129988 LBP LBP . . . 0.043 0.146 . 254 0.00390914 64976 226 0.00376755 59986 Likely_benign . 0 . 0.188 . . . . . . . . . 37 . 0.036 . . 0.385 . . . 0.681 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.102 . . 0.133 . . . . . . 0 0.231 . . . . . 0.144 . 0.106 . HET 0.25 rs2232597 0.033 0.022 . . . . . 0.0027472527472527475 0.0 0.0027624309392265192 0.0 0.006596306068601583 5.1759 0.001605 . V.28 -1.68 . 0.400000 P18428 . . . 0.004613 . 0.083 . . . 0.0007 0.0075 0.0050 0.0038 0.0001 0.0042 0.0055 0.0099 0.0278 0.0009 0.0039 0.0012 0.0033 0 0.0054 0.0055 0.0081 . . 0.283 . -0.093 -0.093000 . . 0.400000 . . 1.0E-255 0.001 0.137 . 0.169 0.502 . 0.075 . 0.009 -0.093 -0.600 0.033 rs2232597 rs2232597 rs2232597 rs2232597 1 1538 10 1/0 0,255,255 +rs753053346 20 37356812 A G - SLC32A1 11018 Solute carrier family 32 (GABA vesicular transporter), member 1 NM_080552.2 1 2574 1578 NP_542119.1 Q9H598 substitution missense exon GRCh37 37356812 37356812 Chr20(GRCh37):g.37356812A>G 1108 1108 NM_080552.2:c.1108A>G p.Ile370Val p.Ile370Val 2 616440 718 3' 82.8182 10.1718 0.956348 7.87235 82.8182 10.1718 0.956348 7.87235 0 Amino acid transporter, transmembrane rs753053346 yes no Frequency 1 A 0.000000 0 0.000020 0.000000 0.000000 0.000000 0.000000 0.000000 0.000045 0.000000 0.000000 0.000045 5 0 0 0 0 0 5 0 0 246178 15298 33580 9848 17248 30782 111652 22286 5484 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 64 Exomes transition A G A>G 1.000 3.918 I Ile ATC 0.481 V Val GTC 0.240 370 14 14 Baker's yeast 3 3 4 0 0 5.II 5.IX 111 84 29 C25 0.00 28.68 Deleterious 0 3.II bad 4.644E-3 0.0001946 255 PASS . . . . . . . . . . . ENSG00000101438:ENST00000217420:exon2:c.A1108G:p.I370V SLC32A1:uc002xjc.3:exon2:c.A1108G:p.I370V SLC32A1:NM_080552:exon2:c.A1108G:p.I370V . . 0.47685185 . . @ 103 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.447 . @ . . . . . 1 0.575 . . 216.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I370V|SLC32A1|mRNA|CODING|NM_080552|NM_080552.ex.2) . . . . . . . 0.3300 0.384 0.330 c . . . . . 2.368e-05 . . . . . . . . . . . 0 2.825e-05 0 0 0 5.521e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.032 . . exonic exonic exonic . . 0.544 @ . . . . . . ENSG00000101438 SLC32A1 SLC32A1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.441 0.021 . . 37 . 0.056 . . 0.573 . . . 0.154 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.178 . . 0 0 0 0 0 0 . 0.456 . . 0.512 . . . . . . 0 0.195 . . . . . 0.526 . 0.507 . HET 0.05 rs753053346 . . . . . . . . . . . . 12.0558 . ENST00000217420 IV.51 IV.51 . 0.310000 Q9H598 . . Name\x3ddgv4568n71 . . 0.731 . . IV.51 0 2.031e-05 0 0 0 0 4.478e-05 0 0 . . . . . . . . . . 0.477 . 1.816 1.816000 . . 0.310000 . . 1.0E-255 1.000 0.715 . 0.529 1.000 . 0.945 . 0.960 1.816 1.062 . . . . . 1 1538 10 1/0 0,226,249 +rs61757594 20 37639022 A G - DHX35 15861 DEAH (Asp-Glu-Ala-His) box polypeptide 35 NM_021931.3 1 3322 2112 NP_068750.2 Q9H5Z1 substitution missense exon GRCh37 37639022 37639022 Chr20(GRCh37):g.37639022A>G 1322 1322 NM_021931.3:c.1322A>G p.Asn441Ser p.Asn441Ser 13 -26 5' 86.9577 XI.51 0.996671 9.41448 86.9577 XI.51 0.996671 9.33495 0 rs61757594 yes no Frequency/1000G 2 A 0.000000 0 0.005192 0.017400 0.000000 0.001000 0.000000 0.002900 0.001942 0.020233 0.000698 0.000000 0.000106 0.000357 0.000095 0.000000 0.000465 0.020233 538 486 24 0 2 11 12 0 3 276976 24020 34406 10144 18866 30780 126510 25794 6456 0.000043 0.000500 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 6 6 0 0 0 0 0 0 0 526 474 24 0 2 11 12 0 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4329 12928 1 77 78 0.000116279 0.0174762 0.00599723 0.000116279 0.0174762 0.00599723 142 transition A G A>G 0.992 3.353 N Asn AAT 0.464 S Ser AGT 0.149 441 11 10 Frog 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 46.24 0.00 Tolerated 0.12 IV.32 good 6.633E-2 0.002117 255 PASS 0.02 0.01 0.01 0.0017 . 0.017 0.0052 0.0029 0.001 . . . . . . . 0.41509435 . . @ 22 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.448 . @ . . . . . 1 0.768 . . 53.0 . . . 0.018 0.006 0.0001 0.018 0.006 0.0001 . 0.0706 0.145 0.071 c . . . . . 1.965e-03 . . . 0.0206 0.0026 0.0010 0.0002 0 9.498e-05 0.0014 0.0004 0.0203 0.0020 0.0010 0.0003 0 9.206e-05 0 0.0004 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.027 . . exonic exonic exonic . . 0.486 0.0052 . . . 0.6 0.44 182 ENSG00000101452 DHX35 DHX35 . . . 1.000 0.747 . 32 0.00049249 64976 6 0.000100023 59986 Uncertain_significance . 0 . 0.843 . . . . . . . . . 37 . 0.036 . . 0.026 . . . 0.547 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.812 . . 0 0 0 0 0 0 . 0.212 . . 0.315 . . . . . . 0 0.546 . . . . . 0.500 . 0.047 . HET 0.03 rs61757594 0.011 0.007 . . . . . 0.005036630036630037 0.016260162601626018 0.0055248618784530384 0.0017482517482517483 0.0 XI.13 0.016319 . V.32 4.II . 0.010000 . . . Name\x3dnsv833973 0.005997 . 0.881 . . 4.II 0.0218 0.0016 0.0007 0 0.0001 0 0.0001 0.0005 0.0004 0.0175 0.0050 0.0024 0 0 0 0 0 . . 0.730 . 0.921 0.921000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.490 0.992 . 0.793 . 0.916 0.921 0.075 0.02 rs61757594 rs61757594 rs61757594 rs61757594 1 1538 10 1/0 0,255,255 +rs117778469 20 42162610 C T - L3MBTL1 15905 L(3)mbt-like 1 (Drosophila) NM_032107.4 1 3366 2523 NP_115479.4 substitution intron GRCh37 42162610 42162610 Chr20(GRCh37):g.42162610C>T 1448-38 1448-38 NM_032107.4:c.1448-38C>T p.? p.? 14 13 608802 -38 3' 84.7638 8.11206 0.947367 9.72448 84.7638 8.11206 0.947367 9.59592 0 rs117778469 yes no Frequency/1000G 2 C 0.000000 0 0.002596 0.000000 0.001000 0.000000 0.007000 0.007200 0.007294 0.001468 0.001399 0.003697 0.000000 0.000816 0.011516 0.014685 0.006562 0.014685 2003 35 48 37 0 25 1438 378 42 274624 23844 34300 10008 18832 30630 124870 25740 6400 0.000073 0.000000 0.000000 0.000000 0.000000 0.000000 0.000144 0.000000 0.000312 10 0 0 0 0 0 9 0 1 1983 35 48 37 0 25 1420 378 40 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8517 4392 12909 83 14 97 0.00965116 0.00317749 0.0074581 0.00965116 0.00317749 0.0074581 75 transition C T C>T 0.000 0.932 255 PASS . 0.0041 0.01 . 0.01 . 0.0026 0.0072 . 0.007 0.001 . . . . . 0.5833333 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . 0.0032 0.0075 0.0097 0.0032 0.0075 0.0097 . 0.1748 . . . . . . . . 7.743e-03 . . . 0.0014 0.0047 0.0023 0 0.0113 0.0077 0.0028 0.0009 0.0016 0.0079 0.0023 0 0.0126 0.0128 0.0072 0.0009 . . . . . . intronic intronic intronic . . . 0.0026 . . . 0.53 0.22 182 ENSG00000185513 L3MBTL1 L3MBTL1 . . . . . . 564 0.00868013 64976 552 0.00920215 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs117778469 . . . . . . . . . . . . . . . . . . . . . . . 0.007458 . . . . II.17 0.0013 0.0072 0.0014 0.0038 0 0.0147 0.0116 0.0063 0.0008 0.0018 0.0077 0.0012 0 0 0.0146 0.0108 0.0082 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs117778469 rs117778469 1 1538 10 1/0 0,255,255 +rs149186573 20 42338595 C T - MYBL2 7548 V-myb avian myeloblastosis viral oncogene homolog-like 2 NM_002466.3 1 2777 2103 NP_002457.1 P10244 substitution intron GRCh37 42338595 42338595 Chr20(GRCh37):g.42338595C>T 1506-8 1506-8 NM_002466.3:c.1506-8C>T p.? p.? 10 9 601415 -8 3' 79.2232 9.51309 0.535401 6.20651 81.033 9.34119 0.530549 6.52245 -0.00142929 rs149186573 yes no Frequency/1000G 2 C 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.003000 0.000000 0.001610 0.000753 0.000189 0.001405 0.000000 0.000104 0.002580 0.002451 0.001301 0.002580 434 18 6 14 0 3 322 63 8 269584 23890 31824 9962 18414 28828 124810 25708 6148 0.000015 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000000 0.000000 2 0 0 0 0 0 2 0 0 430 18 6 14 0 3 318 63 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4405 12986 19 1 20 0.0022093 0.000226963 0.00153775 0.0022093 0.000226963 0.00153775 186 transition C T C>T 0.157 1.577 255 PASS . 0.0009 . . 0.0026 . 0.0006 . . 0.003 . . . . . . 0.5 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . . 0.0002 0.0015 0.0022 0.0002 0.0015 0.0022 . I.08 . . . . . . . . 1.515e-03 . . . 0.0005 0.0012 0.0003 0 0.0005 0.0022 0 0.0001 0.0003 0.0014 0.0003 0 0.0018 0.0024 0 0.0001 . . . . . . intronic intronic intronic . . . 0.0006 . . . 0.63 0.45 182 ENSG00000101057 MYBL2 MYBL2 . . . . . . 143 0.00220081 64976 140 0.00233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149186573 . . . . . . . . . . . . . . . . . . . . 0.0009 0.086 . 0.001538 . . . . III.28 0.0007 0.0016 0.0002 0.0013 0 0.0025 0.0026 0.0014 0.0001 0.0008 0.0016 0.0012 0.0033 0 0.0023 0.0021 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs149186573 rs149186573 1 1538 10 1/0 0,255,255 +rs35397089 20 42972130 C T - R3HDML 16249 R3H domain containing-like NM_178491.3 1 762 762 NP_848586.1 Q9H3Y0 substitution missense exon GRCh37 42972130 42972130 Chr20(GRCh37):g.42972130C>T 494 494 NM_178491.3:c.494C>T p.Thr165Ile p.Thr165Ile 3 -20 5' 71.0434 7.04051 0.933322 4.28919 71.0434 7.04051 0.933322 4.53393 0 CAP domain Allergen V5/Tpx-1-related rs35397089 yes no Frequency/1000G 2 C 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001660 0.000502 0.000394 0.000200 0.000000 0.000792 0.002888 0.001205 0.001423 0.002888 453 12 13 2 0 24 362 31 9 272938 23894 32966 9986 18380 30316 125352 25720 6324 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 453 12 13 2 0 24 362 31 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8577 4403 12980 23 3 26 0.00267442 0.00068089 0.00199908 0.00267442 0.00068089 0.00199908 69 COSM5000029 Pancreas 0.000569 1758 transition C T C>T 0.921 1.739 T Thr ACC 0.361 I Ile ATC 0.481 165 12 3 Northern white-cheeked gibbon -1 -1 -2 0.71 0 8.VI 5.II 61 111 89 C0 220.64 IV.86 Tolerated 0.36 II.98 255 PASS . 0.0009 . . 0.0026 . 0.0004 . . 0.002 . ENSG00000101074:ENST00000217043:exon3:c.C494T:p.T165I R3HDML:uc002xls.2:exon3:c.C494T:p.T165I R3HDML:NM_178491:exon3:c.C494T:p.T165I . . 0.44827586 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.192 . @ . . . . . 1 0.172 . . 87.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T165I|R3HDML|mRNA|CODING|NM_178491|NM_178491.ex.3) 0.0007 0.002 0.0027 0.0007 0.002 0.0027 . -0.8128 -0.727 -0.813 c . . . . . 1.792e-03 . . . 0.0005 0.0013 0.0002 0 0.0011 0.0022 0.0028 0.0007 0.0006 0.0017 8.925e-05 0 0.0012 0.0029 0.0029 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.083 . . exonic exonic exonic . . 0.317 0.0004 . . . 0.24 0.35 182 ENSG00000101074 R3HDML R3HDML . . . 0.008 0.116 . 111 0.00170832 64976 109 0.00181709 59986 Uncertain_significance . 0 . 0.363 . . . . T 0.124 0.005 . . 37 . 0.066 . . 0.257 . . . 0.152 0.266 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.004 . . 0 0 0 0 0 0 . 0.112 . . 0.166 . . . . . . 0 0.390 . . . . . 0.377 . 0.207 . HET 0.05 rs35397089 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 IX.63 2.68E-4 ENST00000217043 5.IX II.79 . 0.080000 Q9H3Y0 . . . 0.001999 . 0.098 . . II.79 0.0005 0.0017 0.0004 0.0002 0 0.0013 0.0029 0.0013 0.0008 0.0005 0.0017 0 0 0 0.0003 0.0031 0.0020 . . 0.185 . 0.343 0.343000 . . 0.080000 . . 1.0E-255 0.300 0.251 . 0.100 0.806 . 0.533 . 0.032 0.343 0.021 0.0027 rs35397089 rs35397089 rs35397089 rs35397089 1 1538 10 1/0 0,255,255 +rs776855379 20 43385007 G A - RIMS4 16183 Regulating synaptic membrane exocytosis 4 NM_182970.2 -1 5136 810 NP_892015.1 Q9H426 substitution intron GRCh37 43385007 43385007 Chr20(GRCh37):g.43385007G>A 592-14 592-14 NM_182970.2:c.592-14C>T p.? p.? 6 5 611601 -14 3' 86.8881 13.0535 0.981234 17.4461 89.6566 XII.16 0.984337 17.354 0.00243203 rs776855379 yes no Frequency 1 G 0.000000 0 0.000019 0.000000 0.000000 0.000000 0.000000 0.000000 0.000042 0.000000 0.000000 0.000042 5 0 0 0 0 0 5 0 0 266810 23202 33956 9916 18502 30028 120388 24544 6274 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.732 0.448 255 PASS . . . . . . . . . . . . . . . . 0.5316456 . . @ 42 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . . . . . . . . . I.82 . . . . . . . . 2.369e-05 . . . 0 4.093e-05 0 0 0 8.718e-05 0 0 0 3.537e-05 0 0 0 6.807e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000101098 RIMS4 RIMS4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs776855379 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv458985 . . . . . II.47 0 1.696e-05 0 0 0 0 3.795e-05 0 0 0 3.232e-05 0 0 0 0 6.676e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 20 43534760 T G - YWHAB 12849 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta NM_003404.4 1 3221 741 NP_003395.1 P31946 substitution intron GRCh37 43534760 43534760 Chr20(GRCh37):g.43534760T>G 684+23 684+23 NM_003404.4:c.684+23T>G p.? p.? 6 6 601289 23 5' 78.1641 8.59132 0.951225 4.97225 78.1641 8.59132 0.951225 4.67588 0 transversion T G T>G 0.008 0.448 214 PASS . . . . . . . . . . . . . . . . 0.2 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . 0.1687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000166913 YWHAB YWHAB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv518547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 20 43534761 T G - YWHAB 12849 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta NM_003404.4 1 3221 741 NP_003395.1 P31946 substitution intron GRCh37 43534761 43534761 Chr20(GRCh37):g.43534761T>G 684+24 684+24 NM_003404.4:c.684+24T>G p.? p.? 6 6 601289 24 5' 78.1641 8.59132 0.951225 4.97225 78.1641 8.59132 0.951225 5.17878 0 transversion T G T>G 0.008 2.950 203 PASS . . . . . . . . . . . . . . . . 0.1724138 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 29.0 . . . . . . . . . . 0.2860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000166913 YWHAB YWHAB . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv518547 . . . . . III.98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs749997411 20 44419478 C T - DNTTIP1 16160 Deoxynucleotidyltransferase, terminal, interacting protein 1 NM_052951.2 1 1290 990 NP_443183.1 Q9H147 substitution upstream GRCh37 44419478 44419478 Chr20(GRCh37):g.44419478C>T -1166 -1166 NM_052951.2:c.-1166C>T p.? p.? 1 611388 -1271 5' 81.398 9.19553 0.985965 XII.95 81.398 9.19553 0.985965 XII.95 0 Cryptic Acceptor Weakly Activated 44419485 7.95998 0.16381 79.0053 8.479 0.227427 80.5159 rs749997411 yes no Frequency 1 C 0.000000 0 0.000549 0.000458 0.001193 0.000000 0.000000 0.000000 0.000733 0.000000 0.001022 0.001193 17 4 1 0 0 0 11 0 1 30972 8734 838 302 1622 0 15004 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 4 1 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition C T C>T 0.059 0.932 255 PASS . . . . . . . . . . . . . . . . 0.45945945 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000124116 WFDC3 WFDC3 . . . . . . 46 0.000707954 64976 46 0.000766846 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749997411 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833990 . . . . . 2.IV . . . . . . . . . 0.0005 0.0005 0.0012 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs749997411 20 44419478 C T - WFDC3 15957 WAP four-disulfide core domain 3 NM_080614.1 -1 1000 696 NP_542181.1 Q8IUB2 substitution intron GRCh37 44419478 44419478 Chr20(GRCh37):g.44419478C>T -864 -864 NM_080614.1:c.-7-857G>A p.? p.? 2 1 -857 3' 72.7762 5.19554 0.235607 I.12 72.7762 5.19554 0.235607 I.12 0 Cryptic Donor Strongly Activated 44419477 0.050937 71.7067 2.98747 0.344212 80.6674 rs749997411 yes no Frequency 1 C 0.000000 0 0.000549 0.000458 0.001193 0.000000 0.000000 0.000000 0.000733 0.000000 0.001022 0.001193 17 4 1 0 0 0 11 0 1 30972 8734 838 302 1622 0 15004 3494 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 4 1 0 0 0 11 0 1 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.059 0.932 255 PASS . . . . . . . . . . . . . . . . 0.45945945 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . 0.5763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000124116 WFDC3 WFDC3 . . . . . . 46 0.000707954 64976 46 0.000766846 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs749997411 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833990 . . . . . 2.IV . . . . . . . . . 0.0005 0.0005 0.0012 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs41427445 20 44637678 A G - MMP9 7176 Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) NM_004994.2 1 2336 2124 NP_004985.2 P14780 substitution missense exon GRCh37 44637678 44637678 Chr20(GRCh37):g.44637678A>G 113 113 NM_004994.2:c.113A>G p.Asn38Ser p.Asn38Ser 1 120361 -26 5' 76.7238 6.31827 0.215431 4.04899 76.7238 6.31827 0.215431 3.96945 0 rs41427445 yes no Frequency/1000G 2 A 0.000000 0 0.007987 0.007600 0.006100 0.004000 0.014900 0.007200 0.009168 0.009915 0.005994 0.046730 0.001169 0.004137 0.010389 0.002848 0.012876 0.046730 2533 237 206 473 22 127 1312 73 83 276282 23902 34366 10122 18826 30700 126292 25628 6446 0.000159 0.000084 0.000058 0.002964 0.000000 0.000000 0.000063 0.000000 0.000310 22 1 1 15 0 0 4 0 1 2489 235 204 443 22 127 1304 73 81 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8497 4364 12861 103 42 145 0.0119767 0.00953246 0.0111487 0.0119767 0.00953246 0.0111487 43 transition A G A>G 0.000 -0.117 N Asn AAT 0.464 S Ser AGT 0.149 38 11 6 Dog 1 1 1 I.33 I.42 11.VI 9.II 56 32 46 C0 220.50 0.00 Tolerated 1 II.89 good 9.652E-1 0.003873 255 PASS 0.002 0.01 0.01 . 0.01 0.0076 0.008 0.0072 0.004 0.015 0.0061 ENSG00000100985:ENST00000372330:exon1:c.A113G:p.N38S MMP9:uc002xqz.3:exon1:c.A113G:p.N38S MMP9:NM_004994:exon1:c.A113G:p.N38S . . 0.44285715 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.031 . @ . . . . . 1 0.087 . . 140.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N38S|MMP9|mRNA|CODING|NM_004994|NM_004994.ex.1) 0.0095 0.011 0.012 0.0095 0.011 0.012 . -1.1779 -1.227 -1.178 c . . . . . 8.848e-03 . . . 0.0095 0.0098 0.0045 0.0024 0.0011 0.0152 0.0103 0.0039 0.0096 0.0088 0.0045 0.0015 0.0026 0.0127 0.0079 0.0040 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.367 . . exonic exonic exonic . . 0.050 0.0080 . . . 0.23 0.33 182 ENSG00000100985 MMP9 MMP9 . . . 1.000 0.489 . 794 0.0122199 64976 756 0.0126029 59986 Benign . 0 . 0.205 . . . . . . . . . 37 . 0.145 . . 0.378 . . . 0.694 0.090 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.227 . . 0 0 0 0 1 0 . 0.147 . . 0.181 . . . . . . 0 0.060 . . . . . 0.231 . 0.029 . HET 0.7 rs41427445 0.011 0.007 . . . . . 0.00641025641025641 0.0020325203252032522 0.011049723756906077 0.0 0.011873350923482849 VI.19 0.008828 ENST00000372330 IV.28 -3.1 . 1.000000 P14780 . . Name\x3dnsv833991 0.011149 . 0.170 . . . 0.0093 0.0092 0.0060 0.0469 0.0013 0.0029 0.0105 0.0134 0.0041 0.0109 0.0089 0.0072 0.0397 0 0.0026 0.0095 0.0102 . . 0.351 . -0.320 -0.320000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.574 0.938 . 0.128 . 0.960 -0.320 0.020 0.012 rs41427445 rs41427445 rs41427445 rs41427445 1 1538 10 1/0 0,240,255 +rs6011986 20 45192254 G A - SLC13A3 14430 Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 NM_022829.5 -1 4048 1809 NP_073740.2 Q8WWT9 substitution intron GRCh37 45192254 45192254 Chr20(GRCh37):g.45192254G>A 1495-64 1495-64 NM_022829.5:c.1495-64C>T p.? p.? 12 11 606411 -64 3' 89.8513 7.46992 0.88492 9.15263 89.8513 7.46992 0.88492 9.23021 0 rs6011986 yes no Frequency/1000G 2 A 0.000000 0 0.504393 0.509100 0.502000 0.539700 0.454300 0.520200 0.008299 0.016726 0.005900 0.003623 0.001299 0.000000 0.005886 0.000000 0.008969 0.016726 241 141 4 1 2 0 85 0 8 29040 8430 678 276 1540 0 14440 2784 892 0.058091 0.000000 0.250000 0.000000 0.000000 0.000000 0.129412 0.000000 0.250000 14 0 1 0 0 0 11 0 2 316 315 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition C T C>T 0.000 -1.247 255 PASS . . . . . 0.51 0.5 0.52 0.54 0.45 0.5 . . . . . 0.5217391 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.6405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.4956 . . . 0.34 0.39 182 ENSG00000158296 SLC13A3 SLC13A3 . uc002xse.2:c.-97C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs6011986 0.120 0.109 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833994 . . . . . . . . . . . . . . . 0.0167 0.0083 0.0059 0.0036 0.0013 0 0.0059 0.0090 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.12 . . rs6011986 rs6011986 1 1538 10 1/0 0,255,255 +rs199786272 20 47247256 G A - PREX1 32594 Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 NM_020820.3 -1 6633 4980 NP_065871.2 Q8TCU6 substitution intron GRCh37 47247256 47247256 Chr20(GRCh37):g.47247256G>A 4593+10 4593+10 NM_020820.3:c.4593+10C>T p.? p.? 36 36 606905 10 5' 89.8263 9.80181 0.998682 XI.32 89.8263 9.80181 0.998682 XI.52 0 rs199786272 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.003000 0.000000 0.000000 0.000000 0.000000 0.000401 0.003206 0.000291 0.000000 0.000000 0.000032 0.000174 0.000000 0.000155 0.003206 111 77 10 0 0 1 22 0 1 276686 24020 34410 10146 18864 30772 126438 25570 6466 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 111 77 10 0 0 1 22 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4396 12995 1 10 11 0.000116279 0.00226963 0.000845763 0.000116279 0.00226963 0.000845763 88 transition C T C>T 0.000 0.286 255 PASS 0.002 0.0005 . . . 0.003 0.0008 . . . . . . . . . 0.43243244 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 74.0 . . INTRON(MODIFIER||||PREX1|mRNA|CODING|NM_020820|) 0.0023 0.0008 0.0001 0.0023 0.0008 0.0001 . 0.4224 . . . . . . . . 3.236e-04 . . . 0.0024 0.0004 0.0002 0 0 0.0002 0 6.125e-05 0.0023 0.0003 0.0002 0 0 0.0001 0 6.161e-05 . . . . . . intronic intronic intronic . . . 0.0008 . . . 0.18 0.27 182 ENSG00000124126 PREX1 PREX1 . . . . . . 7 0.000107732 64976 3 5.00117e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199786272 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv833998 0.000846 . . . . . 0.0030 0.0003 0.0003 0 0 0 0.0002 0.0002 3.25e-05 0.0036 0.0011 0.0012 0 0 0 6.674e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs199786272 rs199786272 1 1538 10 1/0 0,255,255 +. 20 47351333 C T - PREX1 32594 Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 NM_020820.3 -1 6633 4980 NP_065871.2 Q8TCU6 substitution intron GRCh37 47351333 47351333 Chr20(GRCh37):g.47351333C>T 415-146 415-146 NM_020820.3:c.415-146G>A p.? p.? 4 3 606905 -146 3' 90.1454 10.1718 0.750786 11.1237 90.1454 10.1718 0.750786 11.1237 0 rs946814115 yes no Frequency 1 C 0.000000 0 0.000291 0.000574 0.000000 0.000000 0.000000 0.000000 0.000267 0.000000 0.000000 0.000574 9 5 0 0 0 0 4 0 0 30912 8716 838 302 1616 0 14968 3490 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 5 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition G A G>A 0.000 -2.135 255 PASS . . . . . . . . . . . . . . . . 0.5277778 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||PREX1|mRNA|CODING|NM_020820|) . . . . . . . -0.3338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000124126 PREX1 PREX1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0003 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs377030406 20 47990546 C T - KCNB1 6231 Potassium voltage-gated channel subfamily B member 1 NM_004975.3 -1 11847 2577 NP_004966.1 Q14721 substitution synonymous exon GRCh37 47990546 47990546 Chr20(GRCh37):g.47990546C>T 1551 1551 NM_004975.3:c.1551G>A p.Ser517= p.Ser517Ser 2 600397 984 3' 87.6921 12.1719 0.989773 16.0037 87.6921 12.1719 0.989773 16.0037 0 Potassium channel, voltage dependent, Kv2 Potassium channel, voltage dependent, Kv2.1 rs377030406 yes no Frequency 1 C 0.000000 0 0.000090 0.000000 0.000000 0.000000 0.000000 0.000032 0.000182 0.000000 0.000155 0.000182 25 0 0 0 0 1 23 0 1 277102 24024 34418 10150 18870 30772 126612 25794 6462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 0 0 0 0 1 23 0 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 263 COSM4694186 Large intestine 0.000896 2231 transition G A G>A 0.409 -0.924 S Ser TCG 0.056 S Ser TCA 0.148 517 255 PASS . . . . . . . . . . . ENSG00000158445:ENST00000371741:exon2:c.G1551A:p.S517S . KCNB1:NM_004975:exon2:c.G1551A:p.S517S . . 0.5 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 114.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S517|KCNB1|mRNA|CODING|NM_004975|NM_004975.ex.2) . 0.0001 0.0001 . 0.0001 0.0001 . 0.1181 . . . . . . . . 7.892e-05 . . . 0 8.816e-05 0 0 0 0.0002 0 6.06e-05 0 6.591e-05 0 0 0 0.0001 0 6.095e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.31 182 ENSG00000158445 KCNB1 KCNB1 . . . . . . 5 7.69515e-05 64976 5 8.33528e-05 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377030406 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0 9.344e-05 0 0 0 0 0.0002 0.0002 3.25e-05 0 6.463e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0001 . . rs377030406 rs377030406 1 1538 10 1/0 0,253,255 +rs753171398 20 48807715 C G - CEBPB 1834 CCAAT/enhancer binding protein (C/EBP), beta NM_005194.3 1 2108 1038 NP_005185.2 P17676 substitution missense exon GRCh37 48807715 48807715 Chr20(GRCh37):g.48807715C>G 145 145 NM_005194.3:c.145C>G p.Pro49Ala p.Pro49Ala 1 189965 CCAAT/enhancer-binding rs753171398 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000059 1 0 0 0 0 1 0 0 0 80852 1290 14096 6634 2858 16872 29984 6954 2164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transversion C G C>G 1.000 2.223 P Pro CCC 0.328 A Ala GCC 0.403 49 12 2 Chimp -1 -1 -1 0.39 0 8 8.I 32.5 31 27 C0 353.86 0.00 Tolerated 0.67 3.V 245 PASS . . . . . . . . . . . ENSG00000172216:ENST00000303004:exon1:c.C145G:p.P49A CEBPB:uc002xvi.2:exon1:c.C145G:p.P49A . . . 0.29545453 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.188 . @ . . . . . 1 0.184 . . 44.0 . . . . . . . . . . -0.3427 -0.260 -0.343 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.273 . . exonic exonic exonic . . 0.317 @ . . . . . . ENSG00000172216 CEBPB CEBPB . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.082 . . . . D 0.567 0.036 . . 37 . 0.189 . . 0.246 . . . 0.112 0.244 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.253 . . 0 0 0 0 0 0 . 0.323 . . 0.331 . . . . . . 1 0.010 . . . . . 0.159 . 0.276 . HET 0.89 . . . . . . . . . . . . . V.21 . ENST00000303004 2.VIII 2.VIII . 0.600000 P17676 . . . . . 0.294 . . 2.VIII 0 1.237e-05 0 0 0 0 0 0 5.927e-05 . . . . . . . . . . 0.040 . 1.419 1.419000 . . 0.600000 . . 1.0E-245 0.988 0.363 . 0.750 0.994 . 0.269 . 0.290 1.419 0.330 . . . . . 1 1538 10 1/0 0,255,255 +rs753171398 20 48807715 C G - CEBPB-AS1 51226 CEBPB antisense RNA 1 NR_125739.1 -1 2973 0 substitution intron GRCh37 48807715 48807715 Chr20(GRCh37):g.48807715C>G 561+90 561+90 NR_125739.1:n.561+90G>C p.? p.? 2 2 90 5' 84.1959 X.66 0.995067 XI.52 84.1959 X.66 0.995067 XI.52 0 rs753171398 yes no Frequency 1 C 0.000000 0 0.000012 0.000000 0.000000 0.000000 0.000000 0.000059 0.000000 0.000000 0.000000 0.000059 1 0 0 0 0 1 0 0 0 80852 1290 14096 6634 2858 16872 29984 6954 2164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 58 Exomes transversion G C G>C 1.000 2.223 245 PASS . . . . . . . . . . . ENSG00000172216:ENST00000303004:exon1:c.C145G:p.P49A CEBPB:uc002xvi.2:exon1:c.C145G:p.P49A . . . 0.29545453 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.188 . @ . . . . . 1 0.184 . . 44.0 . . . . . . . . . . -0.3427 -0.260 -0.343 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.273 . . exonic exonic exonic . . 0.317 @ . . . . . . ENSG00000172216 CEBPB CEBPB . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.082 . . . . D 0.567 0.036 . . 37 . 0.189 . . 0.246 . . . 0.112 0.244 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.253 . . 0 0 0 0 0 0 . 0.323 . . 0.331 . . . . . . 1 0.010 . . . . . 0.159 . 0.276 . HET 0.89 . . . . . . . . . . . . . V.21 . ENST00000303004 2.VIII 2.VIII . 0.600000 P17676 . . . . . 0.294 . . 2.VIII 0 1.237e-05 0 0 0 0 0 0 5.927e-05 . . . . . . . . . . 0.040 . 1.419 1.419000 . . 0.600000 . . 1.0E-245 0.988 0.363 . 0.750 0.994 . 0.269 . 0.290 1.419 0.330 . . . . . 1 1538 10 1/0 0,255,255 +. 20 49508687 C CTGGAATCCTTCT - ADNP 15766 Activity dependent neuroprotector homeobox NM_001282531.2 -1 6448 3309 NP_001269460.1 Q9H2P0 duplication in-frame exon GRCh37 49508687 49508688 Chr20(GRCh37):g.49508688_49508699dup 2552 2563 NM_001282531.2:c.2552_2563dup p.Ser854_Arg855insLysLysAspSer p.Ser854_Arg855insLysLysAspSer 6 611386 2362 3' 84.8366 9.59044 0.912993 V.57 84.8366 9.59044 0.912993 V.57 0 AGAAGGATTCCA 255 Pass . . . . . . . . . . . . . . . . 0.25 . . . 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 92 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_insertion nonframeshift_insertion nonframeshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000101126 ADNP ADNP . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv834002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,9,60 +. 20 55099974 A C - FAM209A 16100 Family with sequence similarity 209, member A NM_001012971.3 1 678 516 NP_001012989.2 Q5JX71 substitution missense exon GRCh37 55099974 55099974 Chr20(GRCh37):g.55099974A>C 110 110 NM_001012971.3:c.110A>C p.Gln37Pro p.Gln37Pro 1 -140 5' 94.6745 X.23 0.998703 4.60876 94.6745 X.23 0.998703 4.60876 0 transversion A C A>C 0.890 1.820 Q Gln CAA 0.256 P Pro CCA 0.274 37 12 5 Northern white-cheeked gibbon -1 -1 -3 0.89 0.39 10.V 8 85 32.5 76 C0 75.14 0.00 Tolerated 1 III.64 good 9.486E-1 0.03929 189 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A110C:p.Q37P . FAM209A:NM_001012971:exon1:c.A110C:p.Q37P . . 0.13402061 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.044 . . 97.0 . . . . . . . . . . -1.0578 -0.783 -1.058 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.557 @ . . . . . . ENSG00000124103 . FAM209A . . . 0.224 0.184 . . . . . . . Uncertain_significance . 0 . 0.345 . . . . T 0.022 0.001 . . 37 . 0.014 . . 0.414 . . . 0.024 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.509 . 0.248 . LowAF 1 . . . . . . . . . . . . . XI.89 . ENST00000371328 V.51 IV.57 . 1.000000 Q5JX71 . . . . . 0.054 . . IV.57 . . . . . . . . . . . . . . . . . . . 0.246 . 1.317 1.317000 . . 1.000000 . . 1.0E-189 0.919 0.317 . 0.062 0.257 . 0.411 . 0.064 1.317 -0.011 . . . . . 1 1538 10 1/0 0,230,255 +. 20 55099974 A C - GCNT7 16099 Glucosaminyl (N-acetyl) transferase family member 7 NM_080615.1 -1 2064 1293 NP_542182.1 Q6ZNI0 substitution intron GRCh37 55099974 55099974 Chr20(GRCh37):g.55099974A>C 301 301 NM_080615.1:c.-564+865T>G p.? p.? 1 1 865 5' 89.8108 8.67858 0.984935 3.24569 89.8108 8.67858 0.984935 3.24569 0 transversion T G T>G 0.890 1.820 189 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A110C:p.Q37P . FAM209A:NM_001012971:exon1:c.A110C:p.Q37P . . 0.13402061 . . @ 13 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.022 . @ . . . . . 1 0.044 . . 97.0 . . . . . . . . . . -1.0578 -0.783 -1.058 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.065 . . exonic exonic exonic . . 0.557 @ . . . . . . ENSG00000124103 . FAM209A . . . 0.224 0.184 . . . . . . . Uncertain_significance . 0 . 0.345 . . . . T 0.022 0.001 . . 37 . 0.014 . . 0.414 . . . 0.024 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.509 . 0.248 . LowAF 1 . . . . . . . . . . . . . XI.89 . ENST00000371328 V.51 IV.57 . 1.000000 Q5JX71 . . . . . 0.054 . . IV.57 . . . . . . . . . . . . . . . . . . . 0.246 . 1.317 1.317000 . . 1.000000 . . 1.0E-189 0.919 0.317 . 0.062 0.257 . 0.411 . 0.064 1.317 -0.011 . . . . . 1 1538 10 1/0 0,230,255 +. 20 55099975 A G - FAM209A 16100 Family with sequence similarity 209, member A NM_001012971.3 1 678 516 NP_001012989.2 Q5JX71 substitution synonymous exon GRCh37 55099975 55099975 Chr20(GRCh37):g.55099975A>G 111 111 NM_001012971.3:c.111A>G p.Gln37= p.Gln37Gln 1 -139 5' 94.6745 X.23 0.998703 4.60876 94.6745 X.23 0.998703 4.60876 0 New Donor Site 55099974 2.11205 0.019681 60.091 transition A G A>G 0.016 -3.830 Q Gln CAA 0.256 Q Gln CAG 0.744 37 199 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A111G:p.Q37Q . FAM209A:NM_001012971:exon1:c.A111G:p.Q37Q . . 0.15625 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.6612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000124103 . FAM209A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +. 20 55099975 A G - GCNT7 16099 Glucosaminyl (N-acetyl) transferase family member 7 NM_080615.1 -1 2064 1293 NP_542182.1 Q6ZNI0 substitution intron GRCh37 55099975 55099975 Chr20(GRCh37):g.55099975A>G 300 300 NM_080615.1:c.-564+864T>C p.? p.? 1 1 864 5' 89.8108 8.67858 0.984935 3.24569 89.8108 8.67858 0.984935 3.24569 0 transition T C T>C 0.016 -3.830 199 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A111G:p.Q37Q . FAM209A:NM_001012971:exon1:c.A111G:p.Q37Q . . 0.15625 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 96.0 . . . . . . . . . . -0.6612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000124103 . FAM209A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs868327484 20 55099977 A G - FAM209A 16100 Family with sequence similarity 209, member A NM_001012971.3 1 678 516 NP_001012989.2 Q5JX71 substitution missense exon GRCh37 55099977 55099977 Chr20(GRCh37):g.55099977A>G 113 113 NM_001012971.3:c.113A>G p.Tyr38Cys p.Tyr38Cys 1 -137 5' 94.6745 X.23 0.998703 4.60876 94.6745 X.23 0.998703 4.60876 0 rs868327484 no no 0 A 0.000000 0 transition A G A>G 0.961 1.820 Y Tyr TAC 0.562 C Cys TGC 0.552 38 12 5 Northern white-cheeked gibbon -3 -2 -5 0.2 II.75 6.II 5.V 136 55 194 C0 193.72 0.00 Tolerated 0.35 III.64 good 9.769E-1 0.001794 197 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A113G:p.Y38C . FAM209A:NM_001012971:exon1:c.A113G:p.Y38C . . 0.15151516 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.032 . . 99.0 . . . . . . . . . . -1.1475 -0.942 -1.147 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.066 . . exonic exonic exonic . . 0.546 @ . . . . . . ENSG00000124103 . FAM209A . . . 0.210 0.182 . . . . . . . Uncertain_significance . 0 . 0.394 . . . . T 0.059 0.003 . . 37 . 0.024 . . 0.335 . . . 0.047 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.421 . 0.226 . HET 1 . . . . . . . . . . . . . X.41 . ENST00000371328 V.51 IV.52 . 1.000000 Q5JX71 . . . . . 0.021 . . IV.52 . . . . . . . . . . . . . . . . . . . 0.246 . 1.302 1.302000 . . 1.000000 . . 1.0E-197 0.549 0.271 . 0.016 0.431 . 0.405 . 0.008 1.302 -0.056 . . . . . 1 1538 10 1/0 0,231,255 +rs868327484 20 55099977 A G - GCNT7 16099 Glucosaminyl (N-acetyl) transferase family member 7 NM_080615.1 -1 2064 1293 NP_542182.1 Q6ZNI0 substitution intron GRCh37 55099977 55099977 Chr20(GRCh37):g.55099977A>G 298 298 NM_080615.1:c.-564+862T>C p.? p.? 1 1 862 5' 89.8108 8.67858 0.984935 3.24569 89.8108 8.67858 0.984935 3.24569 0 rs868327484 no no 0 A 0.000000 0 transition T C T>C 0.961 1.820 197 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.A113G:p.Y38C . FAM209A:NM_001012971:exon1:c.A113G:p.Y38C . . 0.15151516 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.018 . @ . . . . . 1 0.032 . . 99.0 . . . . . . . . . . -1.1475 -0.942 -1.147 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.066 . . exonic exonic exonic . . 0.546 @ . . . . . . ENSG00000124103 . FAM209A . . . 0.210 0.182 . . . . . . . Uncertain_significance . 0 . 0.394 . . . . T 0.059 0.003 . . 37 . 0.024 . . 0.335 . . . 0.047 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.421 . 0.226 . HET 1 . . . . . . . . . . . . . X.41 . ENST00000371328 V.51 IV.52 . 1.000000 Q5JX71 . . . . . 0.021 . . IV.52 . . . . . . . . . . . . . . . . . . . 0.246 . 1.302 1.302000 . . 1.000000 . . 1.0E-197 0.549 0.271 . 0.016 0.431 . 0.405 . 0.008 1.302 -0.056 . . . . . 1 1538 10 1/0 0,231,255 +rs765922904 20 55099978 C T - FAM209A 16100 Family with sequence similarity 209, member A NM_001012971.3 1 678 516 NP_001012989.2 Q5JX71 substitution synonymous exon GRCh37 55099978 55099978 Chr20(GRCh37):g.55099978C>T 114 114 NM_001012971.3:c.114C>T p.Tyr38= p.Tyr38Tyr 1 -136 5' 94.6745 X.23 0.998703 4.60876 94.6745 X.23 0.998703 4.60876 0 rs765922904 yes no Frequency 1 C 0.000000 0 0.000065 0.000065 0.000000 0.000000 0.000406 0.000000 0.000072 0.000000 0.000000 0.000406 16 1 0 0 7 0 8 0 0 245638 15292 33544 9848 17242 30748 111364 22128 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 1 0 0 7 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 90 Exomes transition C T C>T 0.961 0.286 Y Tyr TAC 0.562 Y Tyr TAT 0.438 38 191 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.C114T:p.Y38Y . FAM209A:NM_001012971:exon1:c.C114T:p.Y38Y . . 0.13861386 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . 0.6008 . . . . . . . . 7.893e-05 . . . 9.628e-05 9.924e-05 0 0.0007 0 9.503e-05 0 0 0.0001 8.476e-05 0 0.0005 0 7.362e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.21 182 ENSG00000124103 . FAM209A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs765922904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.539e-05 6.514e-05 0 0 0.0004 0 7.184e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs765922904 20 55099978 C T - GCNT7 16099 Glucosaminyl (N-acetyl) transferase family member 7 NM_080615.1 -1 2064 1293 NP_542182.1 Q6ZNI0 substitution intron GRCh37 55099978 55099978 Chr20(GRCh37):g.55099978C>T 297 297 NM_080615.1:c.-564+861G>A p.? p.? 1 1 861 5' 89.8108 8.67858 0.984935 3.24569 89.8108 8.67858 0.984935 3.24569 0 rs765922904 yes no Frequency 1 C 0.000000 0 0.000065 0.000065 0.000000 0.000000 0.000406 0.000000 0.000072 0.000000 0.000000 0.000406 16 1 0 0 7 0 8 0 0 245638 15292 33544 9848 17242 30748 111364 22128 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 1 0 0 7 0 8 0 0 0 0 0 0 0 0 0 0 0 PASS 90 Exomes transition G A G>A 0.961 0.286 191 PASS . . . . . . . . . . . ENSG00000124103:ENST00000371328:exon1:c.C114T:p.Y38Y . FAM209A:NM_001012971:exon1:c.C114T:p.Y38Y . . 0.13861386 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . 0.6008 . . . . . . . . 7.893e-05 . . . 9.628e-05 9.924e-05 0 0.0007 0 9.503e-05 0 0 0.0001 8.476e-05 0 0.0005 0 7.362e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.32 0.21 182 ENSG00000124103 . FAM209A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs765922904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.539e-05 6.514e-05 0 0 0.0004 0 7.184e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs755200614 20 55108587 T C - FAM209B 16101 Family with sequence similarity 209, member B NM_001013646.3 1 692 516 NP_001013668.2 Q5JX69 substitution synonymous exon GRCh37 55108587 55108587 Chr20(GRCh37):g.55108587T>C 190 190 NM_001013646.3:c.190T>C p.Leu64= p.Leu64Leu 1 -60 5' 94.6745 X.23 0.998703 5.58017 94.6745 X.23 0.998703 6.02833 0 rs755200614 yes no Frequency 1 T 0.000000 0 0.000040 0.000458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000458 11 11 0 0 0 0 0 0 0 276854 24016 34404 10148 18866 30768 126506 25692 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 11 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.409 L Leu TTG 0.127 L Leu CTG 0.404 64 196 PASS . . . . . . . . . . . ENSG00000213714:ENST00000371325:exon1:c.T190C:p.L64L FAM209B:uc002xxz.4:exon1:c.T190C:p.L64L FAM209B:NM_001013646:exon1:c.T190C:p.L64L . . 0.14864865 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 148.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L64|FAM209B|mRNA|CODING|NM_001013646|NM_001013646.ex.1) . . . . . . . -0.1886 . . . . . . . . 8.682e-05 . . . 0.0004 0.0001 0 0 0 0.0001 0 0 0.0004 3.766e-05 0 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000213714 FAM209B FAM209B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs755200614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 8.132e-06 0 0 0 0 0 0 0 0.0010 0.0003 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,214,255 +rs781339391 20 55108589 G T - FAM209B 16101 Family with sequence similarity 209, member B NM_001013646.3 1 692 516 NP_001013668.2 Q5JX69 substitution missense exon GRCh37 55108589 55108589 Chr20(GRCh37):g.55108589G>T 192 192 NM_001013646.3:c.192G>T p.Leu64Phe p.Leu64Phe 1 -58 5' 94.6745 X.23 0.998703 5.58017 94.6745 X.23 0.998703 4.67926 0 rs781339391 yes no Frequency 1 G 0.000000 0 0.000036 0.000416 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000416 10 10 0 0 0 0 0 0 0 276904 24018 34406 10148 18868 30770 126536 25704 6454 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.000 -0.763 L Leu TTG 0.127 F Phe TTT 0.454 64 12 6 White-tuffed-ear marmoset 1 0 0 0 0 4.IX 5.II 111 132 22 C0 156.90 0.00 Tolerated 0.39 III.75 good 8.35E-1 0.1755 193 PASS . . . . . . . . . . . ENSG00000213714:ENST00000371325:exon1:c.G192T:p.L64F FAM209B:uc002xxz.4:exon1:c.G192T:p.L64F FAM209B:NM_001013646:exon1:c.G192T:p.L64F . . 0.14285715 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.102 . @ . . . . . 1 0.123 . . 154.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttT|L64F|FAM209B|mRNA|CODING|NM_001013646|NM_001013646.ex.1) . . . . . . . -1.6919 -1.765 -1.692 c . . . . . 9.471e-05 . . . 0.0004 0.0001 0 0 0 0.0002 0 0 0.0004 3.766e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.088 . . exonic exonic exonic . . 0.041 @ . . . . . . ENSG00000213714 FAM209B FAM209B . . . 0.002 0.094 . . . . . . . Uncertain_significance . 0 . 0.040 . . . . T 0.053 0.003 . . 37 . 0.044 . . 0.377 . . . 0.225 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.060 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 0 0.055 . . . . . 0.090 . 0.176 . LowAF 0.53 rs781339391 . . . . . . . . . . . . 4.0099 . ENST00000371325 2.VIII -3.7 . 0.790000 Q5JX69 . . . . . 0.008 . . . 0.0001 8.131e-06 0 0 0 0 0 0 0 0.0009 0.0003 0 0 0 0 0 0 . . 0.246 . -1.037 -1.037000 . . 0.790000 . . 1.0E-193 0.000 0.063 . 0.074 0.169 . 0.015 . 0.124 -1.037 -1.140 . . . . . 1 1538 10 1/0 0,212,255 +rs187749495 20 56811270 G A - PPP4R1L 15755 Protein phosphatase 4, regulatory subunit 1-like (pseudogene) NR_003505.3 -1 2398 0 substitution exon GRCh37 56811270 56811270 Chr20(GRCh37):g.56811270G>A 2094 2094 NR_003505.3:n.2094C>T 15 -61 5' 74.3341 5.16937 0.801902 0 74.3341 5.16937 0.801902 0 0 Cryptic Acceptor Strongly Activated 56811257 2.37419 0.087615 70.6547 3.20171 0.231455 73.7704 rs187749495 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.001000 0.000000 0.007000 0.000000 0.004137 0.000654 0.000451 0.002020 0.000086 0.000759 0.004822 0.015829 0.004417 0.015829 732 10 11 17 1 17 337 318 21 176926 15290 24388 8414 11692 22412 69886 20090 4754 0.000068 0.000000 0.000000 0.000000 0.000000 0.000000 0.000057 0.000398 0.000000 6 0 0 0 0 0 2 4 0 720 10 11 17 1 17 333 310 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition C T C>T 0.024 -2.054 255 PASS . 0.0023 . . 0.01 . 0.0016 . . 0.007 0.001 ENSG00000124224:ENST00000497138:exon7:c.C822T:p.H274H . . . . 0.6097561 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 41.0 . . SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H698|PPP4R1L|Non-coding_transcript|NON_CODING|NR_003505|NR_003505.ex.15) . . . . . . . -1.0322 . . . . . . . . 3.860e-03 . . . 0 0.0016 0 0 0.0238 0.0029 0 0.0010 0 0.0038 0 0 0.0202 0.0033 0 0.0010 synonymous_SNV . . . . . exonic intergenic ncRNA_exonic . . . 0.0016 . . . 0.49 0.47 182 ENSG00000124224 . PPP4R1L . dist\x3d75087\x3bdist\x3d9569 . . . . 249 0.00383218 64976 241 0.0040176 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs187749495 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 XI.86 . ENST00000457990 V.19 -7.71 . 0.010000 . . . . . . . . . . 0.0003 0.0034 0.0005 0.0020 9.929e-05 0.0168 0.0030 0.0029 0.0008 0.0009 0.0074 0 0.0033 0 0.0112 0.0114 0.0102 . . . . -1.620 -1.620000 . . 0.010000 . . 1.0E-255 . . . . . . . . . -1.620 . 0.01 . . rs187749495 rs187749495 1 1538 10 1/0 0,255,255 +. 20 57282108 T G - NPEPL1 16244 Aminopeptidase-like 1 NM_024663.3 1 2185 1572 NP_078939.3 Q8NDH3 substitution intron GRCh37 57282108 57282108 Chr20(GRCh37):g.57282108T>G 823-71 823-71 NM_024663.3:c.823-71T>G p.? p.? 7 6 -71 3' 75.9543 9.05131 0.138026 XII.77 75.9543 9.05131 0.138026 13.2812 0 0.000268 0.000131 0.001667 0.000000 0.000000 0.000000 0.000155 0.001310 0.000000 0.001667 7 1 1 0 0 0 2 3 0 26132 7642 600 276 1584 0 12936 2290 804 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 1 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion T G T>G 0.000 -1.247 216 PASS . . . . . . . . . . . . . . . . 0.20512821 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . NPEPL1 STX16-NPEPL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0017 0 0 0.0013 0.0002 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +. 20 57282108 T G - STX16-NPEPL1 41993 STX16-NPEPL1 readthrough (NMD candidate) NR_037945.1 1 4048 0 substitution intron GRCh37 57282108 57282108 Chr20(GRCh37):g.57282108T>G 2781-71 2781-71 NR_037945.1:n.2781-71T>G p.? p.? 18 17 -71 3' 75.9543 9.05131 0.138026 XII.77 75.9543 9.05131 0.138026 13.2812 0 0.000268 0.000131 0.001667 0.000000 0.000000 0.000000 0.000155 0.001310 0.000000 0.001667 7 1 1 0 0 0 2 3 0 26132 7642 600 276 1584 0 12936 2290 804 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 1 1 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transversion T G T>G 0.000 -1.247 216 PASS . . . . . . . . . . . . . . . . 0.20512821 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . -0.2931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic ncRNA_intronic . . . @ . . . . . . . NPEPL1 STX16-NPEPL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0.0017 0 0 0.0013 0.0002 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs755613055 20 57767355 G A - ZNF831 16167 Zinc finger protein 831 NM_178457.2 1 9404 5034 NP_848552.1 Q5JPB2 substitution synonymous exon GRCh37 57767355 57767355 Chr20(GRCh37):g.57767355G>A 1281 1281 NM_178457.2:c.1281G>A p.Val427= p.Val427Val 1 -2458 5' 82.523 9.06409 0.965791 9.50807 82.523 9.06409 0.965791 9.50807 0 Cryptic Donor Strongly Activated 57767352 III.47 0.121653 66.2158 6.10781 0.696277 70.5782 rs755613055 yes no Frequency 1 0.000000 0 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000050 0.000000 0.000000 0.000050 5 0 0 0 0 0 5 0 0 223470 14686 31258 7966 16762 27020 100456 20406 4916 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Exomes transition G A G>A 0.913 -0.279 V Val GTG 0.468 V Val GTA 0.114 427 255 PASS . . . . . . . . . . . ENSG00000124203:ENST00000371030:exon1:c.G1281A:p.V427V ZNF831:uc002yan.3:exon1:c.G1281A:p.V427V ZNF831:NM_178457:exon1:c.G1281A:p.V427V . . 0.54268295 . . @ 89 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 164.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V427|ZNF831|mRNA|CODING|NM_178457|NM_178457.ex.1) . . . . . . . I.08 . . . . . . . . 7.990e-06 . . . 0 1.427e-05 0 0 0 3.037e-05 0 0 0 1.172e-05 0 0 0 2.185e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000124203 ZNF831 ZNF831 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs755613055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.27 0 2.237e-05 0 0 0 0 4.977e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,244 +. 20 60909814 C CT - LAMA5 6485 Laminin, alpha 5 NM_005560.4 -1 11431 11088 NP_005551.3 O15230 insertion intron GRCh37 60909814 60909815 Chr20(GRCh37):g.60909814_60909815insT 2483-138 2483-137 NM_005560.4:c.2483-138_2483-137insA p.? p.? 21 20 601033 -137 3' 90.3044 XII.67 0.989756 18.6399 90.3044 XII.67 0.989756 18.6399 0 New Acceptor Site 60909813 7.93268 0.538038 73.44 rs56242777 yes no Frequency/1000G 2 0.000000 0 0.735823 0.513600 0.845600 0.853200 0.806200 0.732000 0.000137 0.000000 0.000000 0.000000 0.006024 0.000000 0.000000 0.000000 0.000000 0.006024 2 0 0 0 2 0 0 0 0 14600 4060 474 116 332 0 6288 2794 536 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 99 Genomes A 255 Pass . . . . . 0.51 0.74 0.73 0.85 0.81 0.85 . . . . . 0.52 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000130702 LAMA5 LAMA5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs56242777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0.0060 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs56242777 rs56242777 1 1538 10 1.I 0,12,28 +rs550769049 20 60909815 G C - LAMA5 6485 Laminin, alpha 5 NM_005560.4 -1 11431 11088 NP_005551.3 O15230 substitution intron GRCh37 60909815 60909815 Chr20(GRCh37):g.60909815G>C 2483-138 2483-138 NM_005560.4:c.2483-138C>G p.? p.? 21 20 601033 -138 3' 90.3044 XII.67 0.989756 18.6399 90.3044 XII.67 0.989756 18.6399 0 rs550769049 yes no Frequency/1000G 2 G 0.000000 0 0.735823 0.513600 0.845600 0.853200 0.806200 0.732000 0.000424 0.000000 0.000000 0.000000 0.009009 0.000000 0.000000 0.001076 0.000000 0.009009 4 0 0 0 2 0 0 2 0 9436 2362 318 86 222 0 4220 1858 370 0.250000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 1 0 0 0 0 0 0 1 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 154 Genomes transversion C G C>G 0.000 -0.117 255 PASS . . . . . 0.51 0.74 0.73 0.85 0.81 0.85 . . . . . 0.5 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . . . . . . . . . -0.2115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.2642 . . . . . . ENSG00000130702 LAMA5 LAMA5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs550769049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0004 0 0 0.0090 0.0011 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs7268826 20 60909832 T C - LAMA5 6485 Laminin, alpha 5 NM_005560.4 -1 11431 11088 NP_005551.3 O15230 substitution intron GRCh37 60909832 60909832 Chr20(GRCh37):g.60909832T>C 2483-155 2483-155 NM_005560.4:c.2483-155A>G p.? p.? 21 20 601033 -155 3' 90.3044 XII.67 0.989756 18.6399 90.3044 XII.67 0.989756 18.6399 0 rs7268826 no no 0 C 0.000000 0 0.005930 0.007267 0.000000 0.000000 0.020492 0.000000 0.006731 0.001181 0.006803 0.020492 54 20 0 0 5 0 25 2 2 9106 2752 342 66 244 0 3714 1694 294 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 54 20 0 0 5 0 25 2 2 0 0 0 0 0 0 0 0 0 RF 156 Genomes transition A G A>G 0.000 -2.619 255 PASS . . . . . . . . . . . . . . . . 0.6 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.5202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.2 0.11 182 ENSG00000130702 LAMA5 LAMA5 . . . . . . 1470 0.0226237 64976 1375 0.022922 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7268826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0073 0.0059 0 0 0.0205 0.0012 0.0067 0.0068 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs7268826 rs7268826 rs7268826 rs7268826 1 1538 10 1/0 0,255,255 +. (chr20:61326439 T/TCTGCACCTGCACATGCAC) 20 61326439 T TCTGCACCTGCACATGCAC No Alamut gene - other known genes: C20orf90 C20orf90 +rs1063246 20 61472116 G A - COL9A3 2219 Collagen, type IX, alpha 3 NM_001853.3 1 2485 2055 NP_001844.3 Q14050 substitution 3'UTR GRCh37 61472116 61472116 Chr20(GRCh37):g.61472116G>A *32 *32 NM_001853.3:c.*32G>A p.? p.? 32 120270 223 3' 77.0979 9.99448 0.60885 9.97539 77.0979 9.99448 0.60885 9.97539 0 rs1063246 yes no Frequency/1000G 2 G 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 0.000011 0.000000 0.000000 0.000000 0.000084 0.000000 0.000000 0.000054 0.000000 0.000084 2 0 0 0 1 0 0 1 0 179764 16408 24778 8418 11940 22694 72140 18568 4818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.521 255 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.33333334 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 75.0 . . . . . . . . . . -0.1962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.34 0.65 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*32G>A . NM_001853:c.*32G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1063246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.717e-06 0 0 0 6.633e-05 0 0 0 0 3.238e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063246 rs1063246 rs1063246 rs1063246 1 1538 10 1/0 0,255,255 +rs1063246 20 61472116 G A - TCFL5 11646 Transcription factor-like 5 (basic helix-loop-helix) NM_006602.3 -1 2557 1503 NP_006593.2 Q9UL49 substitution downstream GRCh37 61472116 61472116 Chr20(GRCh37):g.61472116G>A *1211 *1211 NM_006602.3:c.*1211C>T p.? p.? 6 604745 1334 3' 92.0271 8.91175 0.904 7.82238 92.0271 8.91175 0.904 7.82238 0 rs1063246 yes no Frequency/1000G 2 G 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 0.000011 0.000000 0.000000 0.000000 0.000084 0.000000 0.000000 0.000054 0.000000 0.000084 2 0 0 0 1 0 0 1 0 179764 16408 24778 8418 11940 22694 72140 18568 4818 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.521 255 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.33333334 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 75.0 . . . . . . . . . . -0.1962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.34 0.65 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*32G>A . NM_001853:c.*32G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1063246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.717e-06 0 0 0 6.633e-05 0 0 0 0 3.238e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063246 rs1063246 rs1063246 rs1063246 1 1538 10 1/0 0,255,255 +rs3210314 20 61472117 C A - COL9A3 2219 Collagen, type IX, alpha 3 NM_001853.3 1 2485 2055 NP_001844.3 Q14050 substitution 3'UTR GRCh37 61472117 61472117 Chr20(GRCh37):g.61472117C>A *33 *33 NM_001853.3:c.*33C>A p.? p.? 32 120270 224 3' 77.0979 9.99448 0.60885 9.97539 77.0979 9.99448 0.60885 9.97539 0 rs3210314 yes no Frequency/1000G 2 C 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 transversion C A C>A 0.000 0.286 248 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.30136988 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.1062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.27 0.65 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*33C>A . NM_001853:c.*33C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3210314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . rs3210314 rs3210314 rs3210314 rs3210314 1 1538 10 1/0 0,255,255 +rs3210314 20 61472117 C A - TCFL5 11646 Transcription factor-like 5 (basic helix-loop-helix) NM_006602.3 -1 2557 1503 NP_006593.2 Q9UL49 substitution downstream GRCh37 61472117 61472117 Chr20(GRCh37):g.61472117C>A *1210 *1210 NM_006602.3:c.*1210G>T p.? p.? 6 604745 1333 3' 92.0271 8.91175 0.904 7.82238 92.0271 8.91175 0.904 7.82238 0 rs3210314 yes no Frequency/1000G 2 C 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 transversion G T G>T 0.000 0.286 248 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.30136988 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 73.0 . . . . . . . . . . -0.1062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.27 0.65 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*33C>A . NM_001853:c.*33C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3210314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . rs3210314 rs3210314 rs3210314 rs3210314 1 1538 10 1/0 0,255,255 +rs1063247 20 61472118 C G - COL9A3 2219 Collagen, type IX, alpha 3 NM_001853.3 1 2485 2055 NP_001844.3 Q14050 substitution 3'UTR GRCh37 61472118 61472118 Chr20(GRCh37):g.61472118C>G *34 *34 NM_001853.3:c.*34C>G p.? p.? 32 120270 225 3' 77.0979 9.99448 0.60885 9.97539 77.0979 9.99448 0.60885 9.97539 0 rs1063247 yes no Frequency/1000G 2 C 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148780 7724 23936 8120 10326 22682 57084 15068 3840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 81 Exomes transversion C G C>G 0.000 0.125 255 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.34177214 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . . . . . . . . . -0.0018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.29 0.69 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*34C>G . NM_001853:c.*34C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1063247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063247 rs1063247 rs1063247 rs1063247 1 1538 10 1/0 0,255,255 +rs1063247 20 61472118 C G - TCFL5 11646 Transcription factor-like 5 (basic helix-loop-helix) NM_006602.3 -1 2557 1503 NP_006593.2 Q9UL49 substitution downstream GRCh37 61472118 61472118 Chr20(GRCh37):g.61472118C>G *1209 *1209 NM_006602.3:c.*1209G>C p.? p.? 6 604745 1332 3' 92.0271 8.91175 0.904 7.82238 92.0271 8.91175 0.904 7.82238 0 rs1063247 yes no Frequency/1000G 2 C 0.000000 0 0.131589 0.205700 0.083800 0.155800 0.092400 0.079300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148780 7724 23936 8120 10326 22682 57084 15068 3840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 81 Exomes transversion G C G>C 0.000 0.125 255 PASS . . . . . 0.21 0.13 0.079 0.16 0.092 0.084 . . . . . 0.34177214 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . . . . . . . . . -0.0018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 UTR3 UTR3 . . . 0.1316 . . . 0.29 0.69 182 ENSG00000092758 COL9A3 COL9A3 ENST00000343916:c.*34C>G . NM_001853:c.*34C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1063247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs1063247 rs1063247 rs1063247 rs1063247 1 1538 10 1/0 0,255,255 +rs141522376 20 62327126 C G - RTEL1 15888 Regulator of telomere elongation helicase 1 NM_001283009.1 1 5125 3903 NP_001269938.1 substitution splice site GRCh37 62327126 62327126 Chr20(GRCh37):g.62327126C>G 3823-5 3823-5 NM_001283009.1:c.3823-5C>G p.? p.? 35 34 608833 -5 3' 85.2003 8.44361 0.750447 5.62697 82.4115 7.65269 0.244523 4.01949 -0.266855 rs141522376 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002722 0.001155 0.002429 0.000000 0.000061 0.000036 0.004728 0.001710 0.002997 0.004728 633 24 72 0 1 1 481 37 17 232540 20772 29642 9306 16350 27430 101734 21634 5672 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 2 0 0 0 0 0 2 0 0 629 24 72 0 1 1 477 37 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8524 4334 12858 30 6 36 0.00350713 0.00138249 0.002792 0.00350713 0.00138249 0.002792 42 RCV000503641.1 germline clinical testing Likely benign 1 not specified transversion C G C>G 0.992 0.448 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.484375 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . 0.0014 0.0028 0.0035 0.0014 0.0028 0.0035 . I.33 . . . . . . . . 2.672e-03 . . . 0.0013 0.0030 0.0053 0.0007 0.0011 0.0050 0.0031 0 0.0011 0.0044 0.0057 0.0006 0.0027 0.0077 0.0035 0 . . . . . . intronic intronic ncRNA_intronic . . . 0.0016 . . . 0.31 0.26 182 . . RTEL1-TNFRSF6B . . . . . . 199 0.00306267 64976 192 0.00320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 13 . . . . . . . . . . HET . rs141522376 0.011 0.007 . . . . . . . . . . . . . . . . . . 0.0017 0.096 . 0.002792 . . . . II.26 0.0006 0.0027 0.0024 0 6.79e-05 0.0018 0.0049 0.0034 3.646e-05 0.0020 0.0027 0.0048 0 0 0.0014 0.0037 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141522376 rs141522376 1 1538 10 1/0 0,255,255 +rs141522376 20 62327126 C G - RTEL1-TNFRSF6B 44095 RTEL1-TNFRSF6B readthrough (NMD candidate) NR_037882.1 1 5772 0 substitution splice site GRCh37 62327126 62327126 Chr20(GRCh37):g.62327126C>G 4650-5 4650-5 NR_037882.1:n.4650-5C>G p.? p.? 35 34 -5 3' 85.2003 8.44361 0.750447 5.62697 82.4115 7.65269 0.244523 4.01949 -0.266855 rs141522376 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002722 0.001155 0.002429 0.000000 0.000061 0.000036 0.004728 0.001710 0.002997 0.004728 633 24 72 0 1 1 481 37 17 232540 20772 29642 9306 16350 27430 101734 21634 5672 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 2 0 0 0 0 0 2 0 0 629 24 72 0 1 1 477 37 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8524 4334 12858 30 6 36 0.00350713 0.00138249 0.002792 0.00350713 0.00138249 0.002792 42 RCV000503641.1 germline clinical testing Likely benign 1 not specified transversion C G C>G 0.992 0.448 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.484375 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . 0.0014 0.0028 0.0035 0.0014 0.0028 0.0035 . I.33 . . . . . . . . 2.672e-03 . . . 0.0013 0.0030 0.0053 0.0007 0.0011 0.0050 0.0031 0 0.0011 0.0044 0.0057 0.0006 0.0027 0.0077 0.0035 0 . . . . . . intronic intronic ncRNA_intronic . . . 0.0016 . . . 0.31 0.26 182 . . RTEL1-TNFRSF6B . . . . . . 199 0.00306267 64976 192 0.00320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 13 . . . . . . . . . . HET . rs141522376 0.011 0.007 . . . . . . . . . . . . . . . . . . 0.0017 0.096 . 0.002792 . . . . II.26 0.0006 0.0027 0.0024 0 6.79e-05 0.0018 0.0049 0.0034 3.646e-05 0.0020 0.0027 0.0048 0 0 0.0014 0.0037 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141522376 rs141522376 1 1538 10 1/0 0,255,255 +rs141522376 20 62327126 C G - TNFRSF6B 11921 Tumor necrosis factor receptor superfamily, member 6b, decoy NM_003823.3 1 1155 903 NP_003814.1 O95407 substitution upstream GRCh37 62327126 62327126 Chr20(GRCh37):g.62327126C>G -995 -995 NM_003823.3:c.-995C>G p.? p.? 1 603361 -1419 5' 81.348 7.62374 0.940127 12.019 81.348 7.62374 0.940127 12.019 0 rs141522376 yes no Frequency/1000G 2 C 0.000000 0 0.001597 0.000000 0.000000 0.000000 0.005000 0.004300 0.002722 0.001155 0.002429 0.000000 0.000061 0.000036 0.004728 0.001710 0.002997 0.004728 633 24 72 0 1 1 481 37 17 232540 20772 29642 9306 16350 27430 101734 21634 5672 0.000017 0.000000 0.000000 0.000000 0.000000 0.000000 0.000039 0.000000 0.000000 2 0 0 0 0 0 2 0 0 629 24 72 0 1 1 477 37 17 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8524 4334 12858 30 6 36 0.00350713 0.00138249 0.002792 0.00350713 0.00138249 0.002792 42 RCV000503641.1 germline clinical testing Likely benign 1 not specified transversion C G C>G 0.992 0.448 255 PASS . 0.0018 0.0028 . 0.004 . 0.0016 0.0043 . 0.005 . . . . . . 0.484375 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . 0.0014 0.0028 0.0035 0.0014 0.0028 0.0035 . I.33 . . . . . . . . 2.672e-03 . . . 0.0013 0.0030 0.0053 0.0007 0.0011 0.0050 0.0031 0 0.0011 0.0044 0.0057 0.0006 0.0027 0.0077 0.0035 0 . . . . . . intronic intronic ncRNA_intronic . . . 0.0016 . . . 0.31 0.26 182 . . RTEL1-TNFRSF6B . . . . . . 199 0.00306267 64976 192 0.00320075 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 13 . . . . . . . . . . HET . rs141522376 0.011 0.007 . . . . . . . . . . . . . . . . . . 0.0017 0.096 . 0.002792 . . . . II.26 0.0006 0.0027 0.0024 0 6.79e-05 0.0018 0.0049 0.0034 3.646e-05 0.0020 0.0027 0.0048 0 0 0.0014 0.0037 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs141522376 rs141522376 1 1538 10 1/0 0,255,255 +rs577963504 20 62493029 A G - ABHD16B 16128 Abhydrolase domain containing 16B NM_080622.3 1 1776 1410 NP_542189.1 Q9H3Z7 substitution missense exon GRCh37 62493029 62493029 Chr20(GRCh37):g.62493029A>G 136 136 NM_080622.3:c.136A>G p.Ser46Gly p.Ser46Gly 1 rs577963504 yes no Frequency/1000G 2 A 0.000200 G 1 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000401 0.000000 0.000412 0.000000 0.000000 0.000403 0.000702 0.000000 0.000000 0.000702 64 0 10 0 0 9 45 0 0 159730 14358 24272 8202 11116 22328 64068 10876 4510 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 0 10 0 0 9 45 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition A G A>G 0.000 -2.054 S Ser AGC 0.243 G Gly GGC 0.342 46 12 8 Mouse 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 353.86 0.00 Tolerated 0.89 III.37 good 9.972E-1 0.001124 255 PASS . . . . . 0.0008 0.0002 . . . . ENSG00000183260:ENST00000369916:exon1:c.A136G:p.S46G ABHD16B:uc002ygx.1:exon1:c.A136G:p.S46G ABHD16B:NM_080622:exon1:c.A136G:p.S46G . . 0.5714286 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.096 . . 98.0 . . . . . . . . . . -1.5454 -1.706 -1.545 c . . . . . 1.671e-04 . . . 0 0.0005 0 0 . 0.0013 0 0.0003 0 0.0005 0 0 0 0.0012 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.471 . . exonic exonic exonic . . 0.008 0.0002 . . . . . . . ABHD16B ABHD16B . . . 1.000 0.747 . 13 0.000200074 64976 13 0.000216717 59986 Uncertain_significance . 0 . 0.181 . . . . D 0.565 0.035 . . 37 . 0.323 . . 0.106 . . . 0.203 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.312 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.512 . . . . . 0.373 . 0.015 . HET 0.23 rs577963504 . . . . . . . . . . . . IX.66 0.0 ENST00000369916 IV.31 -8.61 . 0.050000 Q9H3Z7 . . . . . 0.032 . . . 0 0.0004 0.0004 0 0 0 0.0008 0 0.0004 0 0.0003 0 0 0 0 0.0005 0 . . 0.090 . -1.609 -1.609000 . . 0.050000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.023 . 0.042 -1.609 0.079 . . . . . 1 1538 10 1/0 0,255,255 +rs73147065 20 62574006 A C - MIR1914 35398 MicroRNA 1914 NR_031735.1 -1 80 0 substitution upstream GRCh37 62574006 62574006 Chr20(GRCh37):g.62574006A>C -1109 -1109 NR_031735.1:n.-1109T>G p.? p.? 1 rs73147065 yes no Frequency/1000G 2 G 0.000000 0 0.006686 0.001588 0.001760 0.008264 0.000063 0.006894 0.010197 0.005882 0.006700 0.010197 1516 31 53 74 1 178 1016 126 37 226742 19522 30114 8954 15752 25820 99638 21420 5522 0.000097 0.000000 0.000000 0.000223 0.000000 0.000310 0.000100 0.000093 0.000000 11 0 0 1 0 4 5 1 0 1247 17 46 65 1 154 841 91 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.50549453 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . 0.5919 . . . . . . . . 5.513e-03 . . . 0.0022 0.0103 0.0036 0 0.0088 0.0161 0 0.0094 0.0024 0.0105 0.0038 0 0.0083 0.0163 0 0.0093 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.2306 . . . 0.28 0.28 182 ENSG00000207554 MIR647 MIR647 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs73147065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0068 0.0017 0.0083 0 0.0062 0.0103 0.0068 0.0069 0.0016 0.0060 0.0024 0.0066 0.0006 0.0040 0.0098 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs73147065 rs73147065 1 1538 10 1/0 0,255,255 +rs73147065 20 62574006 A C - MIR647 32903 MicroRNA 647 NR_030377.1 -1 96 0 substitution exon GRCh37 62574006 62574006 Chr20(GRCh37):g.62574006A>C 74 74 NR_030377.1:n.74T>G 1 rs73147065 yes no Frequency/1000G 2 G 0.000000 0 0.006686 0.001588 0.001760 0.008264 0.000063 0.006894 0.010197 0.005882 0.006700 0.010197 1516 31 53 74 1 178 1016 126 37 226742 19522 30114 8954 15752 25820 99638 21420 5522 0.000097 0.000000 0.000000 0.000223 0.000000 0.000310 0.000100 0.000093 0.000000 11 0 0 1 0 4 5 1 0 1247 17 46 65 1 154 841 91 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.50549453 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . 0.5919 . . . . . . . . 5.513e-03 . . . 0.0022 0.0103 0.0036 0 0.0088 0.0161 0 0.0094 0.0024 0.0105 0.0038 0 0.0083 0.0163 0 0.0093 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.2306 . . . 0.28 0.28 182 ENSG00000207554 MIR647 MIR647 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs73147065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0068 0.0017 0.0083 0 0.0062 0.0103 0.0068 0.0069 0.0016 0.0060 0.0024 0.0066 0.0006 0.0040 0.0098 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs73147065 rs73147065 1 1538 10 1/0 0,255,255 +rs73147065 20 62574006 A C - UCKL1 15938 Uridine-cytidine kinase 1 like 1 NM_001353475.1 -1 1872 1650 NP_001340404.1 substitution intron GRCh37 62574006 62574006 Chr20(GRCh37):g.62574006A>C 907-164 907-164 NM_001353475.1:c.907-164T>G p.? p.? 8 7 610866 -164 3' 0 0.156958 0.000675 1.81984 0 0.156958 0.000675 1.81984 0 rs73147065 yes no Frequency/1000G 2 G 0.000000 0 0.006686 0.001588 0.001760 0.008264 0.000063 0.006894 0.010197 0.005882 0.006700 0.010197 1516 31 53 74 1 178 1016 126 37 226742 19522 30114 8954 15752 25820 99638 21420 5522 0.000097 0.000000 0.000000 0.000223 0.000000 0.000310 0.000100 0.000093 0.000000 11 0 0 1 0 4 5 1 0 1247 17 46 65 1 154 841 91 32 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion T G T>G 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.50549453 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 91.0 . . . . . . . . . . 0.5919 . . . . . . . . 5.513e-03 . . . 0.0022 0.0103 0.0036 0 0.0088 0.0161 0 0.0094 0.0024 0.0105 0.0038 0 0.0083 0.0163 0 0.0093 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.2306 . . . 0.28 0.28 182 ENSG00000207554 MIR647 MIR647 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs73147065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0068 0.0017 0.0083 0 0.0062 0.0103 0.0068 0.0069 0.0016 0.0060 0.0024 0.0066 0.0006 0.0040 0.0098 0.0061 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs73147065 rs73147065 1 1538 10 1/0 0,255,255 +rs143230244 20 62599339 C T - ZNF512B 29212 Zinc finger protein 512B NM_020713.2 -1 5922 2679 NP_065764.1 Q96KM6 substitution intron GRCh37 62599339 62599339 Chr20(GRCh37):g.62599339C>T -36 -36 NM_020713.2:c.-2-34G>A p.? p.? 2 1 -34 3' 87.743 8.13305 0.694926 7.68668 87.743 8.13305 0.694926 7.82734 0 rs143230244 yes no Frequency/1000G 2 C 0.000000 0 0.000130 0.000168 0.000147 0.000000 0.000000 0.000166 0.000169 0.000000 0.000000 0.000169 35 4 5 0 0 5 21 0 0 268660 23822 34038 9762 18742 30086 124238 21646 6326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 4 5 0 0 5 21 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4405 13003 2 1 3 0.000232558 0.000226963 0.000230663 0.000232558 0.000226963 0.000230663 40 transition G A G>A 0.000 -0.521 237 PASS 0.002 0.0005 . . . . . . . . . . . . . . 0.26666668 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . INTRON(MODIFIER||||ZNF512B|mRNA|CODING|NM_020713|) 0.0002 0.0002 0.0002 0.0002 0.0002 0.0002 . 0.1409 . . . . . . . . 1.503e-04 . . . 0.0002 0.0002 0.0003 0 0 0.0002 0 0.0003 0.0002 0.0002 0.0003 0 0 0.0001 0 0.0003 . . . . . . intronic intronic intronic . . . @ . . . 0.17 0.26 182 ENSG00000196700 ZNF512B ZNF512B . . . . . . 9 0.000138513 64976 8 0.000133364 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs143230244 . . . . . . . . . . . . . . . . . . . . . . . 0.000231 . . . . . 0.0003 0.0001 0.0002 0 0 0 0.0002 0 0.0002 0 6.463e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.002 . . rs143230244 rs143230244 1 1538 10 1/0 0,255,255 +rs55884239 (chr20:62730227 C/G) 20 62730227 C G Sequence discrepancies in OPRL1 transcript(s): NM_001318853.1 OPRL1 +rs796547288 (chr21:9755877 T/A) 21 9755877 T A Not on a known gene +rs796386681 (chr21:9755930 T/G) 21 9755930 T G Not on a known gene +. (chr21:9768798 T/C) 21 9768798 T C Not on a known gene +. (chr21:9768829 C/T) 21 9768829 C T Not on a known gene +. (chr21:9768833 T/A) 21 9768833 T A Not on a known gene +. (chr21:9768859 G/T) 21 9768859 G T Not on a known gene +. (chr21:9768884 G/T) 21 9768884 G T Not on a known gene +. (chr21:9768901 G/T) 21 9768901 G T Not on a known gene +. (chr21:9768917 C/T) 21 9768917 C T Not on a known gene +. (chr21:9768920 C/A) 21 9768920 C A Not on a known gene +rs6841373 (chr21:9865961 C/T) 21 9865961 C T Not on a known gene +rs796140062 21 9907343 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907343 9907343 Chr21(GRCh37):g.9907343G>A 1458 1458 NR_038327.1:n.1458C>T 4 1090 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs796140062 no no 0 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000033 0.000000 0.000000 0.000000 0.000033 1 0 0 0 0 1 0 0 0 275420 23882 34344 10124 18742 30528 126062 25292 6446 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.984 1.174 203 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.C438T:p.V146V . . . 0.16629589 . . @ 299 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1798.0 . . . . . . . . . . 0.3613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.36 0.3 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.087 0.116 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.091e-06 0 0 0 0 0 0 3.276e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-203 . . . . . . . . . . . 0.087 . . rs707018 rs707018 1 1538 10 1/0 0,107,210 +rs541724740 21 9907385 C A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907385 9907385 Chr21(GRCh37):g.9907385C>A 1416 1416 NR_038327.1:n.1416G>T 4 1048 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 Cryptic Acceptor Strongly Activated 9907372 2.08944 0.000674 67.2644 3.07461 0.006911 72.8609 rs541724740 yes no Frequency/1000G 2 0.000000 0 transversion G T G>T 0.992 2.707 201 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.G396T:p.L132L . . . 0.16069143 . . @ 251 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1562.0 . . . . . . . . . . 0.7916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . 0.0002 . . . 0.37 0.18 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs1052921 rs1052921 1 1538 10 1/0 0,113,213 +rs374344503 21 9907398 G C - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907398 9907398 Chr21(GRCh37):g.9907398G>C 1403 1403 NR_038327.1:n.1403C>G 4 1035 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs374344503 yes no Frequency 1 0.000000 0 transversion C G C>G 0.976 2.707 209 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.C383G:p.A128G . . . 0.18206339 . . @ 270 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1483.0 . . . . . . . . . . -0.5094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.31 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374344503 0.054 0.109 . . . . . . . . . . V.13 . ENST00000400754 0.109 0.109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.181 0.181000 . . . . . 1.0E-209 . . . . . . . . . 0.181 . 0.054 . . rs1052920 rs1052920 1 1538 10 1/0 0,117,212 +rs377744985 21 9907402 G C - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907402 9907402 Chr21(GRCh37):g.9907402G>C 1399 1399 NR_038327.1:n.1399C>G 4 1031 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs377744985 no no 0 0.000000 0 transversion C G C>G 0.984 1.335 212 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.C379G:p.Q127E . . . 0.18854749 . . @ 270 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1432.0 . . . . . . . . . . -1.1701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.32 0.33 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs377744985 0.054 0.109 . . . . . . . . . . 5.482 . ENST00000400754 0.109 -0.218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.406 -1.406000 . . . . . 1.0E-212 . . . . . . . . . -1.406 . 0.054 . . rs711875 rs377744985 1 1538 10 1/0 0,119,211 +rs754504817 21 9907434 T A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907434 9907434 Chr21(GRCh37):g.9907434T>A 1367 1367 NR_038327.1:n.1367A>T 4 999 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 Cryptic Acceptor Strongly Activated 9907422 0.002012 4.92019 0.02013 76.425 rs754504817 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148538 7864 24224 8296 10218 22936 60582 10488 3930 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 78 Exomes transversion A T A>T 0.110 -1.732 215 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.A347T:p.K116M . . . 0.20200334 . . @ 242 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1198.0 . . . . . . . . . . -1.3340 . . . . . . . . 1.821e-05 . . . 0 5.09e-05 0 0 0 0.0001 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.4 0.25 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs754504817 0.076 0.101 . . . . . . . . . . III.24 . ENST00000400754 0.109 -0.218 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -1.719 -1.719000 . . . . . 1.0E-215 . . . . . . . . . -1.719 . 0.076 . . rs711873 rs1810952 1 1538 10 1/0 0,128,216 +rs780638507 21 9907438 A T - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907438 9907438 Chr21(GRCh37):g.9907438A>T 1363 1363 NR_038327.1:n.1363T>A 4 995 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs780638507 yes no Frequency 1 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 146892 7770 24142 8278 10168 22898 59734 9982 3920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 78 Exomes transversion T A T>A 0.150 0.044 219 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.T343A:p.Y115N . . . 0.21891418 . . @ 250 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1142.0 . . . . . . . . . . -1.3272 . . . . . . . . 9.222e-06 . . . 0 5.21e-05 0 0 0 0.0001 0 0 . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.38 0.21 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs780638507 0.076 0.101 . . . . . . . . . . 3.373 . ENST00000400754 0.109 -0.218 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -1.712 -1.712000 . . . . . 1.0E-219 . . . . . . . . . -1.712 . 0.076 . . rs711872 rs3193200 1 1538 10 1/0 0,132,214 +rs867884246 21 9907470 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9907470 9907470 Chr21(GRCh37):g.9907470G>A 1331 1331 NR_038327.1:n.1331C>T 4 963 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 Cryptic Acceptor Weakly Activated 9907462 1.09057 0.000938 58.1942 2.17329 0.000893 60.004 rs867884246 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 134742 6644 23662 8020 9974 22388 53186 7182 3686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 71 Exomes transition C T C>T 0.819 0.125 229 PASS . . . . . . . . . . . . TEKT4P2:uc021wgx.1:exon4:c.C311T:p.T104I . . . 0.23766816 . . @ 212 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 892.0 . . . . . . . . . . -0.6827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.33 0.2 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.014 . . . . . . . . . . . . ENST00000400754 0.109 0.109 . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . 0.181 0.181000 . . . . . 1.0E-229 . . . . . . . . . 0.181 . 0.011 . . rs1810954 rs1810954 1 1538 10 1/0 0,145,229 +. 21 9908275 T C - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9908275 9908275 Chr21(GRCh37):g.9908275T>C 526 526 NR_038327.1:n.526A>G 4 158 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22716 7072 574 234 486 0 10592 3118 640 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 35 Genomes transition A G A>G 0.331 -0.037 171 PASS . . . . . . . . . . . . . . . . 0.10039762 . . @ 101 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1006.0 . . . . . . . . . . 0.3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . uc002zka.2:c.*56A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-171 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,126,252 +. 21 9908298 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9908298 9908298 Chr21(GRCh37):g.9908298G>A 503 503 NR_038327.1:n.503C>T 4 135 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 Cryptic Acceptor Strongly Activated 9908287 2.20959 0.010525 67.8072 3.48533 0.020661 71.9091 0.000028 0.000000 0.000000 0.000000 0.000000 0.000000 0.000028 0.000143 0.000000 0.000143 2 0 0 0 0 0 1 1 0 72346 8800 4660 2724 1420 9670 36344 7014 1714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 1.255 197 PASS . . . . . . . . . . . . . . . . 0.14991182 . . @ 170 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 1134.0 . . . . . . . . . . 0.7510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . uc002zka.2:c.*33C>T . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.721e-05 0 0 0 0 3.368e-05 0 0 0 7.029e-05 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,126,231 +rs368738535 21 9908326 A G - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9908326 9908326 Chr21(GRCh37):g.9908326A>G 475 475 NR_038327.1:n.475T>C 4 107 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs368738535 yes no Frequency 1 0.000000 0 0.000226 0.000000 0.000659 0.000430 0.000000 0.000215 0.000254 0.000000 0.000000 0.000659 12 0 2 1 0 2 7 0 0 53202 3404 3036 2324 1040 9314 27588 5292 1204 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000072 0.000000 0.000000 1 0 0 0 0 0 1 0 0 10 0 2 1 0 2 5 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.984 1.255 255 PASS . . . . . . . . . . . . . . . . 0.4605621 . . @ 508 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1103.0 . . . . . . . . . . 0.3925 . . . . . . . . 3.020e-04 . . . 0 0.0008 0.0057 0 0 0.0010 0 0.0006 0 0.0003 0 0 0 0 0 0.0006 . . . . . . ncRNA_exonic UTR3 ncRNA_exonic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . uc002zka.2:c.*5T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs368738535 0.457 0.442 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0007 0 0 0 0.0003 0 0.0002 0 0.0002 0 0.0135 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.46 . . rs368738535 rs368738535 1 1538 10 1/0 0,155,178 +rs866712175 21 9908331 C G - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9908331 9908331 Chr21(GRCh37):g.9908331C>G 470 470 NR_038327.1:n.470G>C 4 102 3' 85.9128 8.37539 0.819594 5.24682 85.9128 8.37539 0.819594 5.24682 0 rs866712175 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6692 1482 104 78 70 0 3886 884 188 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 33 Genomes transversion G C G>C 0.850 -0.117 255 PASS . . . . . . . . . . . . TEKT4P2:uc002zka.2:exon4:c.G390C:p.X130Y . . . 0.47247708 . . @ 515 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 1090.0 . . . . . . . . . . -1.3116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stoploss . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.53 0.33 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET 0.41 . . . . . . . . . . . . . 2.1456 . ENST00000416067 . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . -2.049 -2.049000 . . . . . 1.0E-255 . . . . . . . . . -2.049 . . . . . . 1 1538 10 1/0 0,156,180 +rs879109034 21 9909078 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9909078 9909078 Chr21(GRCh37):g.9909078G>A 337 337 NR_038327.1:n.337C>T 3 -32 5' 80.2316 5.86969 0.403887 XI.37 80.2316 5.86969 0.403887 X.22 0 Cryptic Donor Strongly Activated 9909080 54.6174 2.08744 0.037497 63.4678 rs879109034 no no 0 0.000000 0 0.002324 0.003115 0.006158 0.000000 0.001767 0.004274 0.000421 0.000000 0.000000 0.006158 25 4 10 0 1 8 2 0 0 10756 1284 1624 192 566 1872 4748 142 328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 4 10 0 1 8 2 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.992 2.707 193 PASS . . . . . . . . . . . . . . . . 0.14222223 . . @ 160 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1125.0 . . . . . . . . . . -0.3554 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.48 0.39 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.06 . 0.087 0.130 . . . . . . . . . . V.13 . ENST00000416067 0.109 0.109 . . B7WNX9 . . . . . . . . . 0.0033 0.0024 0.0062 0 0.0018 0 0.0004 0 0.0043 0 0 0 0 0 0 0 0 . . . . 0.181 0.181000 . . . . . 1.0E-193 . . . . . . . . . 0.181 . 0.087 . . rs9723115 rs9723115 1 1538 10 1/0 0,125,215 +rs878987242 21 9909274 G A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution exon GRCh37 9909274 9909274 Chr21(GRCh37):g.9909274G>A 141 141 NR_038327.1:n.141C>T 3 4 3' 75.1598 9.00547 0.368498 13.5167 75.1598 9.00547 0.484655 13.2755 0.105072 rs878987242 no no 0 0.000000 0 0.000912 0.002079 0.003968 0.000000 0.006579 0.000000 0.000000 0.000000 0.000000 0.006579 10 8 1 0 1 0 0 0 0 10962 3848 252 84 152 122 4038 2144 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 8 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.488 -0.360 174 PASS . . . . . . . . . . . . . . . . 0.10084034 . . @ 120 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 1190.0 . . . . . . . . . . -0.6654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.02 . 0.022 0.014 . . . . . . . . . . . . ENST00000416067 0.109 0.109 . . B7WNX9 . . . . . . . . . 0 0 0 0 0 . 0 0 0 0.0021 0.0009 0.0046 0 0.0068 0 0 0 . . . . 0.181 0.181000 . . . . . 1.0E-174 . . . . . . . . . 0.181 . 0.022 . . . . 1 1538 10 1/0 0,119,250 +rs796887795 21 9909317 T A - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution intron GRCh37 9909317 9909317 Chr21(GRCh37):g.9909317T>A 138-40 138-40 NR_038327.1:n.138-40A>T p.? p.? 3 2 -40 3' 75.1598 9.00547 0.368498 13.5167 75.1598 9.00547 0.368498 13.744 0 rs796887795 no no 0 0.000000 0 0.003734 0.001851 0.003268 0.000000 0.000000 0.000000 0.004434 0.007476 0.000000 0.007476 49 9 1 0 0 0 22 17 0 13122 4862 306 98 252 0 4962 2274 368 0.020408 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.058824 0.000000 1 0 0 0 0 0 0 1 0 47 9 1 0 0 0 22 15 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transversion A T A>T 0.000 -1.651 177 PASS . . . . . . . . . . . . . . . . 0.10554804 . . @ 78 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 739.0 . . . . . . . . . . 0.0175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . . . . ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0037 0.0033 0 0 0.0075 0.0044 0 . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,140,255 +rs375094206 21 9966401 C T - TEKT4P2 40046 Tektin 4 pseudogene 2 NR_038327.1 -1 1612 0 substitution intron GRCh37 9966401 9966401 Chr21(GRCh37):g.9966401C>T 79-21 79-21 NR_038327.1:n.79-21G>A p.? p.? 2 1 -21 3' 85.7153 X.85 0.951849 6.01115 85.7153 X.85 0.960244 VI.09 0.00293989 rs375094206 no no 0 0.000000 0 transition G A G>A 0.000 -0.602 195 PASS . . . . . . . . . . . . . . . . 0.1474359 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . -0.4324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic ncRNA_intronic . . . @ . . . 0.35 0.18 182 ENSG00000188681 TEKT4P2 TEKT4P2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs375094206 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2723012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs2258247 rs2258247 1 1538 10 1/0 0,211,255 +rs371642257 (chr21:10181174 G/A) 21 10181174 G A Not on a known gene +. (chr21:10205916 C/T) 21 10205916 C T Not on a known gene +. (chr21:10205933 A/T) 21 10205933 A T Not on a known gene +. (chr21:10205942 T/A) 21 10205942 T A Not on a known gene +. (chr21:10205952 G/C) 21 10205952 G C Not on a known gene +. (chr21:10205957 T/C) 21 10205957 T C Not on a known gene +. (chr21:10205968 G/A) 21 10205968 G A Not on a known gene +. (chr21:10205986 C/T) 21 10205986 C T Not on a known gene +. (chr21:10206002 T/A) 21 10206002 T A Not on a known gene +rs796078938 (chr21:10793969 A/G) 21 10793969 A G Not on a known gene +rs199550473 (chr21:10793981 A/G) 21 10793981 A G Not on a known gene +rs373540490 (chr21:10794006 T/C) 21 10794006 T C Not on a known gene +rs377480870 (chr21:10794018 A/G) 21 10794018 A G Not on a known gene +rs28971978 (chr21:10794022 A/G) 21 10794022 A G Not on a known gene +rs28491107 (chr21:10795620 G/T) 21 10795620 G T Not on a known gene +rs796650212 (chr21:10795647 G/C) 21 10795647 G C Not on a known gene +rs113143682 21 10969894 A G - TPTE 12023 Transmembrane phosphatase with tensin homology NM_199261.3 -1 2765 1656 NP_954870.2 P56180 substitution intron GRCh37 10969894 10969894 Chr21(GRCh37):g.10969894A>G 119+115 119+115 NM_199261.3:c.119+115T>C p.? p.? 6 6 604336 115 5' 89.5524 9.59704 0.994832 2.86363 89.5524 9.59704 0.994832 2.86363 0 rs113143682 no no 0 0.000000 0 transition T C T>C 0.000 -1.086 201 PASS . . . . . . . . . . . . . . . . 0.16393442 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 61.0 . . . . . . . . . . -0.5279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.48 0.14 182 ENSG00000166157 TPTE TPTE . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113143682 . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . rs113143682 rs113143682 1 1538 10 1/0 0,253,255 +rs598560 21 11020869 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11020869 11020869 Chr21(GRCh37):g.11020869G>A *1326 *1326 NM_182482.2:c.*1326C>T p.? p.? 10 617776 49 3' 93.7948 10.0509 0.826544 4.99404 93.7948 10.0509 0.826544 4.40648 0 rs598560 yes no Frequency 1 0.000000 0 transition C T C>T 0.984 0.528 205 PASS . . . . . . . . . . . . . . . . 0.17391305 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . 0.4491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.71 0.55 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*1326C>T\x3bNM_182481:c.*1326C>T\x3bNM_181704:c.*1421C>T\x3bNM_182484:c.*1421C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs598560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . rs9981999 rs71229211 rs9981999 rs71229211 1 1538 10 1/0 0,255,255 +rs598560 (chr21:11020869 G/A) 21 11020869 G A Transcript NM_182481.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE3 +rs598560 (chr21:11020869 G/A) 21 11020869 G A Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs610070 21 11021125 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11021125 11021125 Chr21(GRCh37):g.11021125C>T *1262 *1262 NM_182482.2:c.*1262G>A p.? p.? 9 617776 -16 5' 74.6218 5.10636 0.51586 0 74.6218 5.10636 0.51586 0 0 Cryptic Acceptor Strongly Activated 11021109 4.26146 0.023543 79.2798 5.24611 0.039776 79.2798 rs610070 yes no Frequency 1 0.000000 0 transition G A G>A 0.969 -0.521 251 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . 0.4343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.71 0.47 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*1262G>A\x3bNM_182481:c.*1262G>A\x3bNM_181704:c.*1357G>A\x3bNM_182484:c.*1357G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs610070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . rs9712674 rs9712674 rs9712674 rs9712674 1 1538 10 1/0 0,255,255 +rs610070 21 11021125 C T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11021125 11021125 Chr21(GRCh37):g.11021125C>T *1262 *1262 NM_182481.1:c.*1262G>A p.? p.? 9 617777 -16 5' 74.6218 5.10636 0.51586 0 74.6218 5.10636 0.51586 0 0 Cryptic Acceptor Strongly Activated 11021109 4.26146 0.023543 79.2798 5.24611 0.039776 79.2798 rs610070 yes no Frequency 1 0.000000 0 transition G A G>A 0.969 -0.521 251 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . 0.4343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.71 0.47 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*1262G>A\x3bNM_182481:c.*1262G>A\x3bNM_181704:c.*1357G>A\x3bNM_182484:c.*1357G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs610070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . rs9712674 rs9712674 rs9712674 rs9712674 1 1538 10 1/0 0,255,255 +rs610070 21 11021125 C T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11021125 11021125 Chr21(GRCh37):g.11021125C>T *1356 *1356 NM_181704.1:c.*1356G>A p.? p.? 8 -16 5' 74.6218 5.10636 0.51586 0 74.6218 5.10636 0.51586 0 0 Cryptic Acceptor Strongly Activated 11021109 4.26146 0.023543 79.2798 5.24611 0.039776 79.2798 rs610070 yes no Frequency 1 0.000000 0 transition G A G>A 0.969 -0.521 251 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 58.0 . . . . . . . . . . 0.4343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.71 0.47 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*1262G>A\x3bNM_182481:c.*1262G>A\x3bNM_181704:c.*1357G>A\x3bNM_182484:c.*1357G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs610070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-251 . . . . . . . . . . . . rs9712674 rs9712674 rs9712674 rs9712674 1 1538 10 1/0 0,255,255 +rs738586 21 11038796 T C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038796 11038796 Chr21(GRCh37):g.11038796T>C *870 *870 NM_182482.2:c.*870A>G p.? p.? 6 617776 -69 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs738586 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 2.627 234 PASS . . . . . . . . . . . . . . . . 0.25714287 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 1.1327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.69 0.55 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*870A>G\x3bNM_182481:c.*870A>G\x3bNM_181704:c.*1085A>G\x3bNM_182484:c.*1085A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs738586 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.022 rs738586 rs71227100 rs738586 rs71227100 1 1538 10 1/0 0,255,255 +rs738586 21 11038796 T C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038796 11038796 Chr21(GRCh37):g.11038796T>C *870 *870 NM_182481.1:c.*870A>G p.? p.? 6 617777 -69 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs738586 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 2.627 234 PASS . . . . . . . . . . . . . . . . 0.25714287 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 1.1327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.69 0.55 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*870A>G\x3bNM_182481:c.*870A>G\x3bNM_181704:c.*1085A>G\x3bNM_182484:c.*1085A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs738586 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.022 rs738586 rs71227100 rs738586 rs71227100 1 1538 10 1/0 0,255,255 +rs738586 21 11038796 T C - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038796 11038796 Chr21(GRCh37):g.11038796T>C *1084 *1084 NM_181704.1:c.*1084A>G p.? p.? 6 -69 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs738586 yes no Frequency 1 0.000000 0 transition A G A>G 1.000 2.627 234 PASS . . . . . . . . . . . . . . . . 0.25714287 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 1.1327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.69 0.55 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*870A>G\x3bNM_182481:c.*870A>G\x3bNM_181704:c.*1085A>G\x3bNM_182484:c.*1085A>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs738586 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . 0.022 rs738586 rs71227100 rs738586 rs71227100 1 1538 10 1/0 0,255,255 +rs10433076 21 11038843 G C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038843 11038843 Chr21(GRCh37):g.11038843G>C *823 *823 NM_182482.2:c.*823C>G p.? p.? 6 617776 -116 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs10433076 yes no Frequency 1 0.000000 0 transversion C G C>G 0.244 -0.117 239 PASS . . . . . . . . . . . . . . . . 0.2706767 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.3977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*823C>G\x3bNM_182481:c.*823C>G\x3bNM_181704:c.*1038C>G\x3bNM_182484:c.*1038C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10433076 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . 0.022 rs10433076 rs10433076 rs10433076 rs10433076 1 1538 10 1/0 0,229,255 +rs10433076 21 11038843 G C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038843 11038843 Chr21(GRCh37):g.11038843G>C *823 *823 NM_182481.1:c.*823C>G p.? p.? 6 617777 -116 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs10433076 yes no Frequency 1 0.000000 0 transversion C G C>G 0.244 -0.117 239 PASS . . . . . . . . . . . . . . . . 0.2706767 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 133.0 . . . . . . . . . . 0.3977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*823C>G\x3bNM_182481:c.*823C>G\x3bNM_181704:c.*1038C>G\x3bNM_182484:c.*1038C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs10433076 0.022 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . 0.022 rs10433076 rs10433076 rs10433076 rs10433076 1 1538 10 1/0 0,229,255 +rs10433076 (chr21:11038843 G/C) 21 11038843 G C Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs599327 21 11038868 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038868 11038868 Chr21(GRCh37):g.11038868C>T *798 *798 NM_182482.2:c.*798G>A p.? p.? 6 617776 -141 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs599327 yes no Frequency 1 0.000000 0 transition G A G>A 0.669 0.367 255 PASS . . . . . . . . . . . . . . . . 0.57831323 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . 0.1729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.79 0.37 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*798G>A\x3bNM_182481:c.*798G>A\x3bNM_181704:c.*1013G>A\x3bNM_182484:c.*1013G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs599327 0.076 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.076 rs599327 rs599327 rs599327 rs599327 1 1538 10 1/0 0,235,236 +rs599327 (chr21:11038868 C/T) 21 11038868 C T Transcript NM_182481.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) BAGE3 +rs599327 21 11038868 C T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038868 11038868 Chr21(GRCh37):g.11038868C>T *1012 *1012 NM_181704.1:c.*1012G>A p.? p.? 6 -141 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs599327 yes no Frequency 1 0.000000 0 transition G A G>A 0.669 0.367 255 PASS . . . . . . . . . . . . . . . . 0.57831323 . . @ 96 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 166.0 . . . . . . . . . . 0.1729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.79 0.37 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*798G>A\x3bNM_182481:c.*798G>A\x3bNM_181704:c.*1013G>A\x3bNM_182484:c.*1013G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs599327 0.076 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.076 rs599327 rs599327 rs599327 rs599327 1 1538 10 1/0 0,235,236 +rs12627085 21 11038882 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038882 11038882 Chr21(GRCh37):g.11038882C>T *784 *784 NM_182482.2:c.*784G>A p.? p.? 6 617776 -155 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs12627085 no no 0 0.000000 0 transition G A G>A 0.606 -0.521 252 PASS . . . . . . . . . . . . . . . . 0.31073445 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.76 0.42 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*784G>A\x3bNM_182481:c.*784G>A\x3bNM_181704:c.*999G>A\x3bNM_182484:c.*999G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12627085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs12627085 rs12627085 rs2537263 rs12627085 1 1538 10 1/0 0,219,255 +rs12627085 21 11038882 C T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038882 11038882 Chr21(GRCh37):g.11038882C>T *784 *784 NM_182481.1:c.*784G>A p.? p.? 6 617777 -155 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs12627085 no no 0 0.000000 0 transition G A G>A 0.606 -0.521 252 PASS . . . . . . . . . . . . . . . . 0.31073445 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.76 0.42 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*784G>A\x3bNM_182481:c.*784G>A\x3bNM_181704:c.*999G>A\x3bNM_182484:c.*999G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12627085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs12627085 rs12627085 rs2537263 rs12627085 1 1538 10 1/0 0,219,255 +rs12627085 21 11038882 C T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038882 11038882 Chr21(GRCh37):g.11038882C>T *998 *998 NM_181704.1:c.*998G>A p.? p.? 6 -155 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs12627085 no no 0 0.000000 0 transition G A G>A 0.606 -0.521 252 PASS . . . . . . . . . . . . . . . . 0.31073445 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 177.0 . . . . . . . . . . -0.2359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.76 0.42 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*784G>A\x3bNM_182481:c.*784G>A\x3bNM_181704:c.*999G>A\x3bNM_182484:c.*999G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs12627085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs12627085 rs12627085 rs2537263 rs12627085 1 1538 10 1/0 0,219,255 +rs28473122 21 11038909 G T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038909 11038909 Chr21(GRCh37):g.11038909G>T *757 *757 NM_182482.2:c.*757C>A p.? p.? 6 617776 -182 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28473122 yes no Frequency 1 0.000000 0 transversion C A C>A 0.827 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.38864627 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 229.0 . . . . . . . . . . 0.3670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.7 0.44 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*757C>A\x3bNM_182481:c.*757C>A\x3bNM_181704:c.*972C>A\x3bNM_182484:c.*972C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28473122 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs28473122 rs28473122 rs28473122 rs28473122 1 1538 10 1/0 0,214,241 +rs28473122 21 11038909 G T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038909 11038909 Chr21(GRCh37):g.11038909G>T *757 *757 NM_182481.1:c.*757C>A p.? p.? 6 617777 -182 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28473122 yes no Frequency 1 0.000000 0 transversion C A C>A 0.827 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.38864627 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 229.0 . . . . . . . . . . 0.3670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.7 0.44 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*757C>A\x3bNM_182481:c.*757C>A\x3bNM_181704:c.*972C>A\x3bNM_182484:c.*972C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28473122 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs28473122 rs28473122 rs28473122 rs28473122 1 1538 10 1/0 0,214,241 +rs28473122 21 11038909 G T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038909 11038909 Chr21(GRCh37):g.11038909G>T *971 *971 NM_181704.1:c.*971C>A p.? p.? 6 -182 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28473122 yes no Frequency 1 0.000000 0 transversion C A C>A 0.827 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.38864627 . . @ 89 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 229.0 . . . . . . . . . . 0.3670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.7 0.44 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*757C>A\x3bNM_182481:c.*757C>A\x3bNM_181704:c.*972C>A\x3bNM_182484:c.*972C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs28473122 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.033 rs28473122 rs28473122 rs28473122 rs28473122 1 1538 10 1/0 0,214,241 +rs1625628 21 11038998 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11038998 11038998 Chr21(GRCh37):g.11038998G>A *668 *668 NM_182482.2:c.*668C>T p.? p.? 6 617776 -271 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 Cryptic Acceptor Strongly Activated 11038994 0.777998 0.00012 77.4727 0.877508 0.0002 77.4727 rs1625628 no no 0 0.000000 0 transition C T C>T 0.740 1.174 211 PASS . . . . . . . . . . . . . . . . 0.18656716 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 268.0 . . . . . . . . . . 0.3757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.48 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*668C>T\x3bNM_182481:c.*668C>T\x3bNM_181704:c.*883C>T\x3bNM_182484:c.*883C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs1625628 rs1625628 rs1625628 rs1625628 1 1538 10 1/0 0,192,255 +rs1625628 21 11038998 G A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11038998 11038998 Chr21(GRCh37):g.11038998G>A *668 *668 NM_182481.1:c.*668C>T p.? p.? 6 617777 -271 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 Cryptic Acceptor Strongly Activated 11038994 0.777998 0.00012 77.4727 0.877508 0.0002 77.4727 rs1625628 no no 0 0.000000 0 transition C T C>T 0.740 1.174 211 PASS . . . . . . . . . . . . . . . . 0.18656716 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 268.0 . . . . . . . . . . 0.3757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.48 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*668C>T\x3bNM_182481:c.*668C>T\x3bNM_181704:c.*883C>T\x3bNM_182484:c.*883C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs1625628 rs1625628 rs1625628 rs1625628 1 1538 10 1/0 0,192,255 +rs1625628 21 11038998 G A - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11038998 11038998 Chr21(GRCh37):g.11038998G>A *882 *882 NM_181704.1:c.*882C>T p.? p.? 6 -271 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 Cryptic Acceptor Strongly Activated 11038994 0.777998 0.00012 77.4727 0.877508 0.0002 77.4727 rs1625628 no no 0 0.000000 0 transition C T C>T 0.740 1.174 211 PASS . . . . . . . . . . . . . . . . 0.18656716 . . @ 50 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 268.0 . . . . . . . . . . 0.3757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.48 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*668C>T\x3bNM_182481:c.*668C>T\x3bNM_181704:c.*883C>T\x3bNM_182484:c.*883C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs1625628 rs1625628 rs1625628 rs1625628 1 1538 10 1/0 0,192,255 +rs28369127 21 11039033 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11039033 11039033 Chr21(GRCh37):g.11039033G>A *633 *633 NM_182482.2:c.*633C>T p.? p.? 6 617776 -306 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28369127 no no 0 0.000000 0 transition C T C>T 0.591 0.609 176 PASS . . . . . . . . . . . . . . . . 0.10569106 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . 0.5886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*633C>T\x3bNM_182481:c.*633C>T\x3bNM_181704:c.*848C>T\x3bNM_182484:c.*848C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs28369127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs28369127 rs28369127 rs28369127 rs28369127 1 1538 10 1/0 0,188,255 +rs28369127 21 11039033 G A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11039033 11039033 Chr21(GRCh37):g.11039033G>A *633 *633 NM_182481.1:c.*633C>T p.? p.? 6 617777 -306 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28369127 no no 0 0.000000 0 transition C T C>T 0.591 0.609 176 PASS . . . . . . . . . . . . . . . . 0.10569106 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . 0.5886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*633C>T\x3bNM_182481:c.*633C>T\x3bNM_181704:c.*848C>T\x3bNM_182484:c.*848C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs28369127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs28369127 rs28369127 rs28369127 rs28369127 1 1538 10 1/0 0,188,255 +rs28369127 21 11039033 G A - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11039033 11039033 Chr21(GRCh37):g.11039033G>A *847 *847 NM_181704.1:c.*847C>T p.? p.? 6 -306 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs28369127 no no 0 0.000000 0 transition C T C>T 0.591 0.609 176 PASS . . . . . . . . . . . . . . . . 0.10569106 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 246.0 . . . . . . . . . . 0.5886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.61 0.46 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*633C>T\x3bNM_182481:c.*633C>T\x3bNM_181704:c.*848C>T\x3bNM_182484:c.*848C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs28369127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs28369127 rs28369127 rs28369127 rs28369127 1 1538 10 1/0 0,188,255 +rs1625833 21 11039072 G T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11039072 11039072 Chr21(GRCh37):g.11039072G>T *594 *594 NM_182482.2:c.*594C>A p.? p.? 6 617776 -345 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs1625833 no no 0 0.000000 0 transversion C A C>A 0.937 2.707 216 PASS . . . . . . . . . . . . . . . . 0.20083682 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 239.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.64 0.45 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*594C>A\x3bNM_182481:c.*594C>A\x3bNM_181704:c.*809C>A\x3bNM_182484:c.*809C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs1625833 rs1625833 rs1625833 rs1625833 1 1538 10 1/0 0,198,255 +rs1625833 21 11039072 G T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11039072 11039072 Chr21(GRCh37):g.11039072G>T *594 *594 NM_182481.1:c.*594C>A p.? p.? 6 617777 -345 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs1625833 no no 0 0.000000 0 transversion C A C>A 0.937 2.707 216 PASS . . . . . . . . . . . . . . . . 0.20083682 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 239.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.64 0.45 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*594C>A\x3bNM_182481:c.*594C>A\x3bNM_181704:c.*809C>A\x3bNM_182484:c.*809C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs1625833 rs1625833 rs1625833 rs1625833 1 1538 10 1/0 0,198,255 +rs1625833 21 11039072 G T - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11039072 11039072 Chr21(GRCh37):g.11039072G>T *808 *808 NM_181704.1:c.*808C>A p.? p.? 6 -345 5' 84.9006 9.46092 0.940353 0 84.9006 9.46092 0.940353 0 0 rs1625833 no no 0 0.000000 0 transversion C A C>A 0.937 2.707 216 PASS . . . . . . . . . . . . . . . . 0.20083682 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 239.0 . . . . . . . . . . 0.2577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.64 0.45 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*594C>A\x3bNM_182481:c.*594C>A\x3bNM_181704:c.*809C>A\x3bNM_182484:c.*809C>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs1625833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . rs1625833 rs1625833 rs1625833 rs1625833 1 1538 10 1/0 0,198,255 +rs3915340 21 11039344 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11039344 11039344 Chr21(GRCh37):g.11039344G>A *322 *322 NM_182482.2:c.*322C>T p.? p.? 6 617776 86 3' 69.8299 2.03295 0.003733 0 69.8299 2.03295 0.003733 0 0 rs3915340 yes no Frequency 1 0.000000 0 transition C T C>T 0.016 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.2722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.67 0.35 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*322C>T\x3bNM_182481:c.*322C>T\x3bNM_181704:c.*537C>T\x3bNM_182484:c.*537C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3915340 0.043 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs3915340 rs3915340 rs3915340 rs3915340 1 1538 10 1/0 0,239,255 +rs3915340 21 11039344 G A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11039344 11039344 Chr21(GRCh37):g.11039344G>A *322 *322 NM_182481.1:c.*322C>T p.? p.? 6 617777 86 3' 69.8299 2.03295 0.003733 0 69.8299 2.03295 0.003733 0 0 rs3915340 yes no Frequency 1 0.000000 0 transition C T C>T 0.016 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.32258064 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . . . . . . . . . -0.2722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.67 0.35 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*322C>T\x3bNM_182481:c.*322C>T\x3bNM_181704:c.*537C>T\x3bNM_182484:c.*537C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3915340 0.043 0.072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs3915340 rs3915340 rs3915340 rs3915340 1 1538 10 1/0 0,239,255 +rs3915340 (chr21:11039344 G/A) 21 11039344 G A Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs7280925 21 11049503 T A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11049503 11049503 Chr21(GRCh37):g.11049503T>A *68 *68 NM_182482.2:c.*68A>T p.? p.? 4 617776 -54 5' 87.864 10.0774 0.993135 4.71375 87.864 10.0774 0.993135 4.41048 0 Cryptic Acceptor Strongly Activated 11049489 2.08264 0.055797 73.8997 4.0839 0.232133 79.3002 rs7280925 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.937 -0.037 219 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . 0.9143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.57 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*68A>T\x3bNM_182481:c.*68A>T\x3bNM_181704:c.*283A>T\x3bNM_182484:c.*283A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7280925 0.359 0.377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . 0.36 rs7280925 rs7280925 rs7280925 rs7280925 1 1538 10 1/0 0,225,255 +rs7280925 21 11049503 T A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 3'UTR GRCh37 11049503 11049503 Chr21(GRCh37):g.11049503T>A *68 *68 NM_182481.1:c.*68A>T p.? p.? 4 617777 -54 5' 87.864 10.0774 0.993135 4.11647 87.864 10.0774 0.993135 3.81319 0 Cryptic Acceptor Strongly Activated 11049489 2.08264 0.055797 73.8997 4.0839 0.232133 79.3002 rs7280925 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.937 -0.037 219 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . 0.9143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.57 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*68A>T\x3bNM_182481:c.*68A>T\x3bNM_181704:c.*283A>T\x3bNM_182484:c.*283A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7280925 0.359 0.377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . 0.36 rs7280925 rs7280925 rs7280925 rs7280925 1 1538 10 1/0 0,225,255 +rs7280925 21 11049503 T A - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution 3'UTR GRCh37 11049503 11049503 Chr21(GRCh37):g.11049503T>A *282 *282 NM_181704.1:c.*282A>T p.? p.? 4 -54 5' 87.864 10.0774 0.993135 4.11647 87.864 10.0774 0.993135 3.81319 0 Cryptic Acceptor Strongly Activated 11049489 2.08264 0.055797 73.8997 4.0839 0.232133 79.3002 rs7280925 yes no Frequency 1 T 0.000000 0 transversion A T A>T 0.937 -0.037 219 PASS . . . . . . . . . . . . . . . . 0.20930232 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 129.0 . . . . . . . . . . 0.9143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . @ . . . 0.75 0.57 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*68A>T\x3bNM_182481:c.*68A>T\x3bNM_181704:c.*283A>T\x3bNM_182484:c.*283A>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs7280925 0.359 0.377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . 0.36 rs7280925 rs7280925 rs7280925 rs7280925 1 1538 10 1/0 0,225,255 +rs468629 21 11049516 G A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 3'UTR GRCh37 11049516 11049516 Chr21(GRCh37):g.11049516G>A *55 *55 NM_182482.2:c.*55C>T p.? p.? 4 617776 -67 5' 87.864 10.0774 0.993135 4.71375 87.864 10.0774 0.993135 4.11647 0 rs468629 yes no Frequency/1000G 2 A 0.000000 0 0.811502 0.641500 0.867100 0.770800 0.954300 0.909200 transition C T C>T 1.000 1.497 111 PASS . . . . . 0.64 0.81 0.91 0.77 0.95 0.87 . . . . . 1.0 . . @ 135 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 135.0 . . . . . . . . . . 1.0191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 UTR3 . . . 0.1853 . . . 0.73 0.59 182 ENSG00000187172 BAGE3 . . . NM_182482:c.*55C>T\x3bNM_182481:c.*55C>T\x3bNM_181704:c.*270C>T\x3bNM_182484:c.*270C>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs468629 0.880 0.884 . . . . . . . . . . . . . . . . . . . . . . . . . . II.29 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.88 rs468629 rs468629 rs468629 rs468629 1 1538 255 1.I 0,0,255 +rs468629 (chr21:11049516 G/A) 21 11049516 G A Transcript NM_182481.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE3 +rs468629 (chr21:11049516 G/A) 21 11049516 G A Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +. 21 11058261 C CT - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 duplication frameshift exon GRCh37 11058261 11058262 Chr21(GRCh37):g.11058262dup 178 178 NM_182482.2:c.178dup p.Arg60Lysfs*131 p.Arg60Lysfs*131 3 617776 62 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.43373 0 rs541080822 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.000447 0.000042 0.000299 0.000723 0.000000 0.000132 0.000636 0.000650 0.000806 0.000723 120 1 10 7 0 4 77 16 5 268182 23930 33496 9684 18870 30374 121006 24620 6202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 10 7 0 4 77 16 5 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes A 255 Pass . . . . . 0.0008 0.0014 0.0029 . 0.004 . . BAGE3:uc002yit.1:exon3:c.178dupA:p.R60fs . . . 0.10204082 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 147 . . . 0.0084 0.031 0.043 . . . . . . . . . . . . . 9.226e-03 . . . 0.0023 0.0082 0.0040 0 0.0065 0.0132 0.0099 0.0053 0.0025 0.0073 0.0038 0 0.0073 0.0105 0.0087 0.0053 . frameshift_insertion frameshift_insertion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000187172 BAGE3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs541080822 . . . . . . . . . . . . . . . . . . . . . . . 0.031230 . . . . . 6.57e-05 0.0005 0.0003 0.0007 0 0.0008 0.0007 0.0010 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,4,99 +. 21 11058261 C CT - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 duplication frameshift exon GRCh37 11058261 11058262 Chr21(GRCh37):g.11058262dup 178 178 NM_182481.1:c.178dup p.Arg60Lysfs*131 p.Arg60Lysfs*131 3 617777 62 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.43373 0 rs541080822 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.000447 0.000042 0.000299 0.000723 0.000000 0.000132 0.000636 0.000650 0.000806 0.000723 120 1 10 7 0 4 77 16 5 268182 23930 33496 9684 18870 30374 121006 24620 6202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 10 7 0 4 77 16 5 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes A 255 Pass . . . . . 0.0008 0.0014 0.0029 . 0.004 . . BAGE3:uc002yit.1:exon3:c.178dupA:p.R60fs . . . 0.10204082 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 147 . . . 0.0084 0.031 0.043 . . . . . . . . . . . . . 9.226e-03 . . . 0.0023 0.0082 0.0040 0 0.0065 0.0132 0.0099 0.0053 0.0025 0.0073 0.0038 0 0.0073 0.0105 0.0087 0.0053 . frameshift_insertion frameshift_insertion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000187172 BAGE3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs541080822 . . . . . . . . . . . . . . . . . . . . . . . 0.031230 . . . . . 6.57e-05 0.0005 0.0003 0.0007 0 0.0008 0.0007 0.0010 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,4,99 +. 21 11058261 C CT - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 duplication 3'UTR GRCh37 11058261 11058262 Chr21(GRCh37):g.11058262dup *62 *62 NM_181704.1:c.*62dup p.? p.? 3 62 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.43373 0 rs541080822 yes no Frequency/1000G 2 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.004000 0.002900 0.000447 0.000042 0.000299 0.000723 0.000000 0.000132 0.000636 0.000650 0.000806 0.000723 120 1 10 7 0 4 77 16 5 268182 23930 33496 9684 18870 30374 121006 24620 6202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 1 10 7 0 4 77 16 5 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes A 255 Pass . . . . . 0.0008 0.0014 0.0029 . 0.004 . . BAGE3:uc002yit.1:exon3:c.178dupA:p.R60fs . . . 0.10204082 . . . 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 147 . . . 0.0084 0.031 0.043 . . . . . . . . . . . . . 9.226e-03 . . . 0.0023 0.0082 0.0040 0 0.0065 0.0132 0.0099 0.0053 0.0025 0.0073 0.0038 0 0.0073 0.0105 0.0087 0.0053 . frameshift_insertion frameshift_insertion . . . ncRNA_exonic exonic exonic . . . . . . . . . . ENSG00000187172 BAGE3 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs541080822 . . . . . . . . . . . . . . . . . . . . . . . 0.031230 . . . . . 6.57e-05 0.0005 0.0003 0.0007 0 0.0008 0.0007 0.0010 0.0001 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 . . . . 1 1538 10 1.I 0,4,99 +rs7364059 21 11059877 T C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution intron GRCh37 11059877 11059877 Chr21(GRCh37):g.11059877T>C 117-1554 117-1554 NM_182482.2:c.117-1554A>G p.? p.? 3 2 617776 -1554 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs7364059 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 -2.054 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.8266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7364059 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.033 rs7364059 rs7364059 rs7364059 rs7364059 1 1538 255 1.I 0,0,255 +rs7364059 21 11059877 T C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution intron GRCh37 11059877 11059877 Chr21(GRCh37):g.11059877T>C 117-1554 117-1554 NM_182481.1:c.117-1554A>G p.? p.? 3 2 617777 -1554 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs7364059 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 -2.054 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.8266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7364059 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.033 rs7364059 rs7364059 rs7364059 rs7364059 1 1538 255 1.I 0,0,255 +rs7364059 21 11059877 T C - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution intron GRCh37 11059877 11059877 Chr21(GRCh37):g.11059877T>C *1-1554 *1-1554 NM_181704.1:c.*1-1554A>G p.? p.? 3 2 -1554 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs7364059 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.000 -2.054 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . -0.8266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . @ . . . 0.48 0.24 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7364059 0.033 0.051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.033 rs7364059 rs7364059 rs7364059 rs7364059 1 1538 255 1.I 0,0,255 +rs75112368 21 11059951 T C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution intron GRCh37 11059951 11059951 Chr21(GRCh37):g.11059951T>C 117-1628 117-1628 NM_182482.2:c.117-1628A>G p.? p.? 3 2 617776 -1628 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs75112368 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.43 0.29 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75112368 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs75112368 rs75112368 1 1538 10 1/0 0,255,255 +rs75112368 21 11059951 T C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution intron GRCh37 11059951 11059951 Chr21(GRCh37):g.11059951T>C 117-1628 117-1628 NM_182481.1:c.117-1628A>G p.? p.? 3 2 617777 -1628 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs75112368 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.43 0.29 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75112368 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs75112368 rs75112368 1 1538 10 1/0 0,255,255 +rs75112368 21 11059951 T C - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 substitution intron GRCh37 11059951 11059951 Chr21(GRCh37):g.11059951T>C *1-1628 *1-1628 NM_181704.1:c.*1-1628A>G p.? p.? 3 2 -1628 3' 85.9825 IX.37 0.973415 7.30863 85.9825 IX.37 0.973415 7.30863 0 rs75112368 yes no Frequency 1 T 0.000000 0 transition A G A>G 0.000 0.851 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 20.0 . . . . . . . . . . -0.1672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . 0.43 0.29 182 ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs75112368 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs75112368 rs75112368 1 1538 10 1/0 0,255,255 +. 21 11098676 CTCCTACCACTCCAGCCGCCA C - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 deletion intron GRCh37 11098677 11098696 Chr21(GRCh37):g.11098677_11098696del 15+7 15+26 NM_182482.2:c.15+7_15+26del p.? p.? 1 1 617776 7 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.942954 4.16941 0.00751345 rs796070313 no no 0 0.000000 0 TGGCGGCTGGAGTGGTAGGA 255 Pass . . . . . . . . . . . . . . . . 0.10655738 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,97 +. 21 11098676 CTCCTACCACTCCAGCCGCCA C - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 deletion intron GRCh37 11098677 11098696 Chr21(GRCh37):g.11098677_11098696del 15+7 15+26 NM_182481.1:c.15+7_15+26del p.? p.? 1 1 617777 7 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.942954 4.16941 0.00751345 rs796070313 no no 0 0.000000 0 TGGCGGCTGGAGTGGTAGGA 255 Pass . . . . . . . . . . . . . . . . 0.10655738 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,97 +. 21 11098676 CTCCTACCACTCCAGCCGCCA C - BAGE4 15730 B melanoma antigen family, member 4 NM_181704.1 -1 1755 120 NP_859055.1 Q86Y28 deletion intron GRCh37 11098677 11098696 Chr21(GRCh37):g.11098677_11098696del 15+27 15+46 NM_181704.1:c.15+27_15+46del p.? p.? 1 1 27 5' 82.7022 9.63249 0.966403 5.88111 82.7022 9.63249 0.966403 5.89052 0 rs796070313 no no 0 0.000000 0 TGGCGGCTGGAGTGGTAGGA 255 Pass . . . . . . . . . . . . . . . . 0.10655738 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . . . . . . . . ENSG00000187172 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,4,97 +rs73891536 21 11098732 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 5'UTR GRCh37 11098732 11098732 Chr21(GRCh37):g.11098732C>T -15 -15 NM_182482.2:c.-15G>A p.? p.? 1 617776 -30 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 V.99 0 rs73891536 yes no Frequency 1 0.000000 0 0.000084 0.000125 0.000000 0.000000 0.000053 0.000456 0.000032 0.000000 0.000155 0.000456 23 3 0 0 1 14 4 0 1 274572 24024 34410 10144 18866 30720 124256 25714 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 3 0 0 1 14 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.004 0.125 209 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 165.0 . . . . . . . . . . -0.0409 . . . . . . . . 2.459e-04 . . . 0.0001 0.0003 0 0.0002 0 7.123e-05 0 0.0013 0.0001 0.0003 0 0.0001 0 0.0001 0 0.0013 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.57 0.41 182 ENSG00000187172 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73891536 . . CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000072781.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.21e-05 0 0 5.799e-05 0 3.662e-05 0.0002 0.0005 0.0003 9.684e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . rs73891536 rs73891536 rs73891536 1 1538 10 1/0 0,212,255 +rs73891536 21 11098732 C T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 5'UTR GRCh37 11098732 11098732 Chr21(GRCh37):g.11098732C>T -15 -15 NM_182481.1:c.-15G>A p.? p.? 1 617777 -30 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 V.99 0 rs73891536 yes no Frequency 1 0.000000 0 0.000084 0.000125 0.000000 0.000000 0.000053 0.000456 0.000032 0.000000 0.000155 0.000456 23 3 0 0 1 14 4 0 1 274572 24024 34410 10144 18866 30720 124256 25714 6438 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 3 0 0 1 14 4 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.004 0.125 209 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 165.0 . . . . . . . . . . -0.0409 . . . . . . . . 2.459e-04 . . . 0.0001 0.0003 0 0.0002 0 7.123e-05 0 0.0013 0.0001 0.0003 0 0.0001 0 0.0001 0 0.0013 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.57 0.41 182 ENSG00000187172 . . . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73891536 . . CLINSIG\x3duntested\x3bCLNDBN\x3dmelanoma\x3bCLNACC\x3dRCV000072781.1 CLINSIG\x3dother\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 CLINSIG\x3duntested\x3bCLNDBN\x3dMalignant_melanoma\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000072781.2\x3bCLNDSDB\x3dMedGen:SNOMED_CT\x3bCLNDSDBID\x3dC0025202:2092003 . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.21e-05 0 0 5.799e-05 0 3.662e-05 0.0002 0.0005 0.0003 9.684e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . rs73891536 rs73891536 rs73891536 1 1538 10 1/0 0,212,255 +rs73891536 (chr21:11098732 C/T) 21 11098732 C T Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs76612892 21 11098756 C A - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 5'UTR GRCh37 11098756 11098756 Chr21(GRCh37):g.11098756C>A -39 -39 NM_182482.2:c.-39G>T p.? p.? 1 617776 -54 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 5.1211 0 rs76612892 yes no Frequency 1 0.000000 0 0.000011 0.000000 0.000029 0.000000 0.000000 0.000032 0.000000 0.000000 0.000155 0.000032 3 0 1 0 0 1 0 0 1 274448 23996 34420 10146 18868 30782 124244 25558 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.004 0.125 218 PASS . . . . . . . . . . . . . . . . 0.20779221 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.0127 . . . . . . . . 3.171e-05 . . . 0 3.332e-05 8.648e-05 0 0 2.375e-05 0 6.061e-05 0 3.79e-05 8.917e-05 0 0 3.681e-05 0 6.095e-05 . . . . . . ncRNA_exonic UTR5 UTR5 . . . @ . . . 0.58 0.4 182 ENSG00000187172 . . . . NM_001187:c.-19G>T\x3bNM_182482:c.-39G>T\x3bNM_182481:c.-39G>T\x3bNM_181704:c.-19G>T\x3bNM_182484:c.-19G>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76612892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.214e-06 2.978e-05 0 0 0 0 0 3.249e-05 0 3.23e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs76612892 rs76612892 1 1538 10 1/0 0,218,255 +rs76612892 21 11098756 C A - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 5'UTR GRCh37 11098756 11098756 Chr21(GRCh37):g.11098756C>A -39 -39 NM_182481.1:c.-39G>T p.? p.? 1 617777 -54 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 5.1211 0 rs76612892 yes no Frequency 1 0.000000 0 0.000011 0.000000 0.000029 0.000000 0.000000 0.000032 0.000000 0.000000 0.000155 0.000032 3 0 1 0 0 1 0 0 1 274448 23996 34420 10146 18868 30782 124244 25558 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G T G>T 0.004 0.125 218 PASS . . . . . . . . . . . . . . . . 0.20779221 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 154.0 . . . . . . . . . . 0.0127 . . . . . . . . 3.171e-05 . . . 0 3.332e-05 8.648e-05 0 0 2.375e-05 0 6.061e-05 0 3.79e-05 8.917e-05 0 0 3.681e-05 0 6.095e-05 . . . . . . ncRNA_exonic UTR5 UTR5 . . . @ . . . 0.58 0.4 182 ENSG00000187172 . . . . NM_001187:c.-19G>T\x3bNM_182482:c.-39G>T\x3bNM_182481:c.-39G>T\x3bNM_181704:c.-19G>T\x3bNM_182484:c.-19G>T . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs76612892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.214e-06 2.978e-05 0 0 0 0 0 3.249e-05 0 3.23e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs76612892 rs76612892 1 1538 10 1/0 0,218,255 +rs76612892 (chr21:11098756 C/A) 21 11098756 C A Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (A) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs73891538 21 11098763 C T - BAGE2 15723 B melanoma antigen family, member 2 NM_182482.2 -1 1891 330 NP_872288.2 Q86Y29 substitution 5'UTR GRCh37 11098763 11098763 Chr21(GRCh37):g.11098763C>T -46 -46 NM_182482.2:c.-46G>A p.? p.? 1 617776 -61 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 5.05726 0 rs73891538 yes no Frequency 1 0.000000 0 0.000029 0.000000 0.000087 0.000000 0.000000 0.000097 0.000016 0.000000 0.000000 0.000097 8 0 3 0 0 3 2 0 0 274058 23924 34410 10136 18866 30780 124174 25338 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.016 -1.812 236 PASS . . . . . . . . . . . . . . . . 0.26174498 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.3221 . . . . . . . . 4.756e-05 . . . 0 5.556e-05 8.649e-05 0 0 2.375e-05 0 0.0002 0 5.686e-05 8.919e-05 0 0 3.682e-05 0 0.0002 . . . . . . ncRNA_exonic UTR5 UTR5 . . . @ . . . 0.56 0.39 182 ENSG00000187172 . . . . NM_001187:c.-26G>A\x3bNM_182482:c.-46G>A\x3bNM_182481:c.-46G>A\x3bNM_181704:c.-26G>A\x3bNM_182484:c.-26G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73891538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.289e-05 8.935e-05 0 0 0 1.831e-05 0 9.747e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . rs73891538 rs73891538 rs73891538 1 1538 10 1/0 0,224,255 +rs73891538 21 11098763 C T - BAGE3 15728 B melanoma antigen family, member 3 NM_182481.1 -1 1891 330 NP_872287.1 Q86Y29 substitution 5'UTR GRCh37 11098763 11098763 Chr21(GRCh37):g.11098763C>T -46 -46 NM_182481.1:c.-46G>A p.? p.? 1 617777 -61 5' 83.1053 VIII.62 0.922168 5.23821 83.1053 VIII.62 0.922168 5.05726 0 rs73891538 yes no Frequency 1 0.000000 0 0.000029 0.000000 0.000087 0.000000 0.000000 0.000097 0.000016 0.000000 0.000000 0.000097 8 0 3 0 0 3 2 0 0 274058 23924 34410 10136 18866 30780 124174 25338 6430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.016 -1.812 236 PASS . . . . . . . . . . . . . . . . 0.26174498 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . . . . . . . . . -0.3221 . . . . . . . . 4.756e-05 . . . 0 5.556e-05 8.649e-05 0 0 2.375e-05 0 0.0002 0 5.686e-05 8.919e-05 0 0 3.682e-05 0 0.0002 . . . . . . ncRNA_exonic UTR5 UTR5 . . . @ . . . 0.56 0.39 182 ENSG00000187172 . . . . NM_001187:c.-26G>A\x3bNM_182482:c.-46G>A\x3bNM_182481:c.-46G>A\x3bNM_181704:c.-26G>A\x3bNM_182484:c.-26G>A . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73891538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.289e-05 8.935e-05 0 0 0 1.831e-05 0 9.747e-05 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . rs73891538 rs73891538 rs73891538 1 1538 10 1/0 0,224,255 +rs73891538 (chr21:11098763 C/T) 21 11098763 C T Transcript NM_181704.1: Genome/Transcript discrepancy: Alternate genomic nucleotide (T) same as transcript nucleotide (Assembly: GRCh37) BAGE4 +rs200541045 21 14424099 A T - ANKRD30BP2 16620 Ankyrin repeat domain 30B pseudogene 2 NR_026916.1 1 3419 0 substitution intron GRCh37 14424099 14424099 Chr21(GRCh37):g.14424099A>T 722-18 722-18 NR_026916.1:n.722-18A>T p.? p.? 6 5 -18 3' 82.3439 4.99502 0.082617 3.0677 82.3439 7.23722 0.140816 5.88682 0.384443 Cryptic Acceptor Strongly Activated 14424117 4.99502 0.082617 82.3439 7.23722 0.140816 82.3439 rs200541045 no no 0 A 0.000000 0 0.000514 0.001921 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001921 15 15 0 0 0 0 0 0 0 29156 7810 788 298 1556 0 14614 3170 920 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 15 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 71 Genomes transversion A T A>T 0.063 0.367 176 PASS . . . . . . . . . . . . . . . . 0.10526316 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 57.0 . . INTRON(MODIFIER||||ANKRD30BP2|Non-coding_transcript|NON_CODING|NR_026916|) . . . . . . . -0.3137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.33 0.12 182 ENSG00000224309 ANKRD30BP2 ANKRD30BP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200541045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0005 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs200541045 rs200541045 1 1538 10 1/0 0,251,255 +rs183142354 (chr21:14745472 C/T) 21 14745472 C T Not on a known gene +rs796875438 (chr21:14745502 A/G) 21 14745502 A G Not on a known gene +rs78104043 21 14771325 C T - ANKRD30BP1 19722 Ankyrin repeat domain 30B pseudogene 1 ENST00000451052.1 -1 2186 0 substitution exon GRCh37 14771325 14771325 Chr21(GRCh37):g.14771325C>T 670 670 ENST00000451052.1:n.670G>A 12 28 3' 73.2898 4.50924 0.441432 0 73.2898 4.50924 0.441432 0 0 rs78104043 yes no Frequency/1000G 2 C 0.000000 0 0.298123 0.083200 0.272000 0.428600 0.344900 0.487000 transition G A G>A 0.000 -0.198 255 PASS . . . . . 0.083 0.3 0.49 0.43 0.34 0.27 . . . . . 0.5652174 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1558 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . 0.2981 . . . 0.32 0.29 182 ENSG00000175302 . . . dist\x3d280754\x3bdist\x3d7380 dist\x3d280754\x3bdist\x3d7380 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs78104043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs78104043 rs78104043 1 1538 10 1/0 0,255,255 +rs79003645 21 14771326 T G - ANKRD30BP1 19722 Ankyrin repeat domain 30B pseudogene 1 ENST00000451052.1 -1 2186 0 substitution exon GRCh37 14771326 14771326 Chr21(GRCh37):g.14771326T>G 669 669 ENST00000451052.1:n.669A>C 12 27 3' 73.2898 4.50924 0.441432 0 73.2898 4.50924 0.441432 0 0 rs79003645 yes no Frequency/1000G 2 T 0.000000 0 0.298323 0.083200 0.273000 0.428600 0.344900 0.487000 transversion A C A>C 0.000 -0.682 255 PASS . . . . . 0.083 0.3 0.49 0.43 0.34 0.27 . . . . . 0.5416667 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 24.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . 0.2983 . . . 0.31 0.32 182 ENSG00000175302 . . . dist\x3d280755\x3bdist\x3d7379 dist\x3d280755\x3bdist\x3d7379 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs79003645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79003645 rs79003645 1 1538 10 1/0 0,255,255 +rs77453818 21 14771327 T C - ANKRD30BP1 19722 Ankyrin repeat domain 30B pseudogene 1 ENST00000451052.1 -1 2186 0 substitution exon GRCh37 14771327 14771327 Chr21(GRCh37):g.14771327T>C 668 668 ENST00000451052.1:n.668A>G 12 26 3' 73.2898 4.50924 0.441432 0 73.2898 4.50924 0.441432 0 0 rs77453818 yes no Frequency/1000G 2 T 0.000000 0 0.298323 0.083200 0.273000 0.428600 0.344900 0.487000 transition A G A>G 0.000 0.044 255 PASS . . . . . 0.083 0.3 0.49 0.43 0.34 0.27 . . . . . 0.5 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 24.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . 0.2983 . . . 0.32 0.39 182 ENSG00000175302 . . . dist\x3d280756\x3bdist\x3d7378 dist\x3d280756\x3bdist\x3d7378 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs77453818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77453818 rs77453818 1 1538 10 1/0 0,255,255 +rs56121372 21 14987811 C T - POTED 23822 POTE ankyrin domain family, member D NM_174981.3 1 1826 1755 NP_778146.2 Q86YR6 substitution missense exon GRCh37 14987811 14987811 Chr21(GRCh37):g.14987811C>T 730 730 NM_174981.3:c.730C>T p.His244Tyr p.His244Tyr 3 607549 -81 5' 72.3493 7.98261 0.889381 1.37514 72.3493 7.98261 0.889381 1.37514 0 Ankyrin repeat Ankyrin repeat-containing domain rs56121372 yes no Frequency 1 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM3773995 Kidney 0.000578 1729 transition C T C>T 0.992 1.981 H His CAC 0.587 Y Tyr TAC 0.562 244 12 11 Ciona intestinalis 2 2 3 0.58 0.2 10.IV 6.II 96 136 83 C25 40.79 83.33 Deleterious 0.01 II.69 bad 7.095E-3 0.002425 255 PASS . . . . . . . . . . . ENSG00000166351:ENST00000299443:exon3:c.C730T:p.H244Y POTED:uc002yjb.1:exon3:c.C730T:p.H244Y POTED:NM_174981:exon3:c.C730T:p.H244Y . . 0.8947368 . . @ 68 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.519 . @ . . . . . 1 0.521 . . 76.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H244Y|POTED|mRNA|CODING|NM_174981|NM_174981.ex.3) . . . . . . . 0.0874 -0.165 0.087 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.791 . . exonic exonic exonic . . 0.213 @ . . . 0.37 0.35 182 ENSG00000166351 POTED POTED . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.497 . . . . T 0.212 0.008 . . 37 . 0.831 . . 0.850 . . . 0.797 0.342 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.826 . . 0 0 0 0 0 0 . 0.561 . . 0.631 . . . . . . 0 0.586 . . . . . 0.199 . 0.669 . HOM 0 rs56121372 . . . . . . . . . . . . VI.68 . ENST00000299443 1.IV 1.IV . 0.020000 Q86YR6 . . . . . 0.340 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 1.081 1.081000 . . 0.020000 . . 1.0E-255 0.997 0.399 . 0.074 0.019 . 0.629 . 0.278 1.081 0.666 . rs56121372 rs56121372 rs56121372 rs199909497 1 1538 10 1/0 0,255,255 +rs55653693 21 14987871 G T - POTED 23822 POTE ankyrin domain family, member D NM_174981.3 1 1826 1755 NP_778146.2 Q86YR6 substitution missense exon GRCh37 14987871 14987871 Chr21(GRCh37):g.14987871G>T 790 790 NM_174981.3:c.790G>T p.Asp264Tyr p.Asp264Tyr 3 607549 -21 5' 72.3493 7.98261 0.889381 1.37514 72.3493 7.98261 0.889381 0 0 Cryptic Donor Strongly Activated 14987865 0.003954 58.6231 1.14582 0.030891 63.6418 Ankyrin repeat Ankyrin repeat-containing domain rs55653693 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4985115 Soft tissue 0.005515 544 transversion G T G>T 0.220 -0.117 D Asp GAT 0.461 Y Tyr TAT 0.438 264 12 9 Ciona intestinalis -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C25 48.73 113.87 Deleterious 0.01 II.69 good 1.306E-2 0.009284 255 PASS . . . . . . . . . . . ENSG00000166351:ENST00000299443:exon3:c.G790T:p.D264Y POTED:uc002yjb.1:exon3:c.G790T:p.D264Y POTED:NM_174981:exon3:c.G790T:p.D264Y . . 0.73214287 . . @ 41 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.450 . @ . . . . . 1 0.313 . . 56.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D264Y|POTED|mRNA|CODING|NM_174981|NM_174981.ex.3) . . . . . . . -0.5724 -0.896 -0.572 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.716 . . exonic exonic exonic . . 0.087 @ . . . 0.33 0.28 182 ENSG00000166351 POTED POTED . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.107 . . . . T 0.212 0.008 . . 37 . 0.710 . . 0.613 . . . 0.842 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.839 . . 0 0 0 0 0 0 . 0.592 . . 0.518 . . . . . . 0 0.784 . . . . . 0.099 . 0.475 . HET 0.01 rs55653693 . . . . . . . . . . . . IV.97 . ENST00000299443 1.IV -1.3 . 0.010000 Q86YR6 . . . . . 0.048 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.361 -0.361000 . . 0.010000 . . 1.0E-255 0.002 0.151 . 0.043 0.076 . 0.054 . 0.089 -0.361 -0.290 . rs55653693 rs55653693 rs55653693 rs200402186 1 1538 10 1/0 0,255,255 +rs4818602 (chr21:15149370 T/A) 21 15149370 T A No Alamut gene - other known genes: TERF1P1 TERF1P1 +rs796171090 21 15343568 A G - ANKRD20A11P 42024 Ankyrin repeat domain 20 family, member A11, pseudogene NR_027270.1 -1 1095 0 substitution intron GRCh37 15343568 15343568 Chr21(GRCh37):g.15343568A>G 743+8455 743+8455 NR_027270.1:n.743+8455T>C p.? p.? 1 1 8455 5' 72.2046 7.37531 0.863557 14.0828 72.2046 7.37531 0.863557 14.0828 0 rs796171090 no no 0 0.000000 0 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001048 0.000000 1 0 0 0 0 0 0 0 1 30506 8648 822 292 1600 0 14838 3352 954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition T C T>C 0.154 -0.117 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . INTRON(MODIFIER||||ANKRD20A11P|Non-coding_transcript|NON_CODING|NR_027270|) . . . . . . . -0.0139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215559 ANKRD20A11P ANKRD20A11P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.278e-05 0 0 0 0 0 0.0010 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796854677 21 15343599 A G - ANKRD20A11P 42024 Ankyrin repeat domain 20 family, member A11, pseudogene NR_027270.1 -1 1095 0 substitution intron GRCh37 15343599 15343599 Chr21(GRCh37):g.15343599A>G 743+8424 743+8424 NR_027270.1:n.743+8424T>C p.? p.? 1 1 8424 5' 72.2046 7.37531 0.863557 14.0828 72.2046 7.37531 0.863557 14.0828 0 rs796854677 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30468 8582 830 292 1602 0 14838 3370 954 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition T C T>C 0.350 0.367 209 PASS . . . . . . . . . . . . . . . . 0.1875 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||ANKRD20A11P|Non-coding_transcript|NON_CODING|NR_027270|) . . . . . . . 0.4036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000215559 ANKRD20A11P ANKRD20A11P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs111887611 21 15347922 A C - ANKRD20A11P 42024 Ankyrin repeat domain 20 family, member A11, pseudogene NR_027270.1 -1 1095 0 substitution intron GRCh37 15347922 15347922 Chr21(GRCh37):g.15347922A>C 743+4101 743+4101 NR_027270.1:n.743+4101T>G p.? p.? 1 1 4101 5' 72.2046 7.37531 0.863557 14.0828 72.2046 7.37531 0.863557 14.0828 0 Cryptic Donor Strongly Activated 15347922 0.005064 65.5422 5.06568 0.433528 78.1572 rs111887611 no no 0 0.000000 0 transversion T G T>G 0.906 0.528 213 PASS . . . . . . . . . . . . . . . . 0.19417475 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 103.0 . . INTRON(MODIFIER||||ANKRD20A11P|Non-coding_transcript|NON_CODING|NR_027270|) . . . . . . . 0.1986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.28 182 ENSG00000215559 ANKRD20A11P ANKRD20A11P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs111887611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-213 . . . . . . . . . . . . . . rs111887611 rs111887611 1 1538 10 1/0 0,233,255 +rs113662770 21 15347997 A G - ANKRD20A11P 42024 Ankyrin repeat domain 20 family, member A11, pseudogene NR_027270.1 -1 1095 0 substitution intron GRCh37 15347997 15347997 Chr21(GRCh37):g.15347997A>G 743+4026 743+4026 NR_027270.1:n.743+4026T>C p.? p.? 1 1 4026 5' 72.2046 7.37531 0.863557 14.0828 72.2046 7.37531 0.863557 14.0828 0 rs113662770 no no 0 0.000000 0 transition T C T>C 0.000 -2.135 212 PASS . . . . . . . . . . . . . . . . 0.1923077 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 104.0 . . INTRON(MODIFIER||||ANKRD20A11P|Non-coding_transcript|NON_CODING|NR_027270|) . . . . . . . -0.3063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.31 182 ENSG00000215559 ANKRD20A11P ANKRD20A11P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113662770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs113662770 rs113662770 1 1538 10 1/0 0,233,255 +rs201729688 (chr21:15440916 T/C) 21 15440916 T C Not on a known gene +rs558557956 (chr21:15440919 T/C) 21 15440919 T C Not on a known gene +. (chr21:15440942 C/T) 21 15440942 C T Not on a known gene +. (chr21:15440949 C/G) 21 15440949 C G Not on a known gene +. (chr21:15440953 C/T) 21 15440953 C T Not on a known gene +rs200830934 (chr21:15440987 G/A) 21 15440987 G A Not on a known gene +rs373908808 (chr21:15440991 T/G) 21 15440991 T G Not on a known gene +rs61755058 21 16338443 G A - NRIP1 8001 Nuclear receptor interacting protein 1 NM_003489.3 -1 7556 3477 NP_003480.2 P48552 substitution missense exon GRCh37 16338443 16338443 Chr21(GRCh37):g.16338443G>A 2071 2071 NM_003489.3:c.2071C>T p.Pro691Ser p.Pro691Ser 4 602490 2405 3' 88.6255 9.14311 0.984716 6.29784 88.6255 9.14311 0.984716 6.29784 0 rs61755058 yes no Frequency/1000G 2 G 0.000000 0 0.001398 0.000800 0.000000 0.000000 0.006000 0.000000 0.001685 0.000833 0.001253 0.000099 0.000000 0.000033 0.002967 0.000643 0.001398 0.002967 464 20 43 1 0 1 374 16 9 275432 24014 34306 10132 18832 30762 126044 24902 6440 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000016 0.000000 0.000000 1 0 0 0 0 0 1 0 0 462 20 43 1 0 1 372 16 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8573 4404 12977 27 2 29 0.00313953 0.000453926 0.00222974 0.00313953 0.000453926 0.00222974 88 transition C T C>T 0.000 0.125 P Pro CCA 0.274 S Ser TCA 0.148 691 12 6 Frog -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Tolerated 0.55 III.68 good 6.016E-1 0.3882 255 PASS . 0.0023 . . 0.01 0.0008 0.0014 . . 0.006 . . . NRIP1:NM_003489:exon4:c.C2071T:p.P691S . . 0.45238096 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.015 . @ . . . . . 1 0.077 . . 42.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P691S|NRIP1|mRNA|CODING|NM_003489|NM_003489.ex.4) 0.0005 0.0022 0.0031 0.0005 0.0022 0.0031 . -1.0778 -1.122 -1.078 c . . . . . 1.729e-03 . . . 0.0013 0.0016 0.0015 0 0.0005 0.0026 0.0014 6.065e-05 0.0010 0.0016 0.0015 0 0.0006 0.0025 0.0029 6.1e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.173 . . exonic exonic exonic . . 0.051 0.0014 . . . 0.4 0.28 182 ENSG00000180530 NRIP1 NRIP1 . . . 1.000 0.428 . 143 0.00220081 64976 136 0.0022672 59986 Uncertain_significance . 0 . 0.256 . . . . T 0.112 0.005 . . 37 . 0.050 . . 0.187 . . . 0.097 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.067 . . 0.145 . . . . . . 0 0.178 . . . . . 0.009 . 0.019 . HET 0.34 rs61755058 . . . . . . . 0.0022893772893772895 0.0 0.0 0.0 0.006596306068601583 0.756 5.35E-4 . V.69 -3.02 . 0.260000 P48552 . . Name\x3dnsv834048 0.002230 . 0.150 . . . 0.0010 0.0017 0.0013 0.0001 0 0.0007 0.0030 0.0015 3.251e-05 0.0006 0.0016 0.0012 0 0 0.0006 0.0027 0.0010 . . 0.730 . -0.397 -0.397000 . . 0.260000 . . 1.0E-255 0.000 0.063 . 0.104 0.034 . 0.052 . 0.198 -0.397 -0.030 0.01 rs61755058 rs61755058 rs61755058 rs61755058 1 1538 10 1/0 0,255,255 +rs1997607 (chr21:30257568 T/C) 21 30257568 T C Transcript NM_013240.5: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) N6AMT1 +rs147439688 21 33068965 G A - SCAF4 19304 SR-related CTD-associated factor 4 NM_020706.2 -1 4269 3444 NP_065757.1 O95104 substitution synonymous exon GRCh37 33068965 33068965 Chr21(GRCh37):g.33068965G>A 876 876 NM_020706.2:c.876C>T p.Ala292= p.Ala292Ala 8 616023 -84 5' 68.6916 0 0.099926 0 68.6916 0 0.099926 0 0 Cryptic Acceptor Weakly Activated 33068960 1.13056 0.086871 72.7306 1.15799 0.093871 76.2762 rs147439688 yes no Frequency/1000G 2 G 0.000000 0 0.001597 0.000000 0.003100 0.000000 0.003000 0.002900 0.002209 0.000500 0.000668 0.000000 0.000053 0.001202 0.002653 0.007413 0.001856 0.007413 612 12 23 0 1 37 336 191 12 277094 24012 34410 10152 18868 30778 126646 25764 6464 0.000007 0.000000 0.000058 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 1 0 1 0 0 0 0 0 0 610 12 21 0 1 37 336 191 12 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8581 4403 12984 19 3 22 0.0022093 0.00068089 0.00169153 0.0022093 0.00068089 0.00169153 96 COSM3740275 Liver 0.000422 2371 transition C T C>T 0.000 -1.005 A Ala GCC 0.403 A Ala GCT 0.263 292 255 PASS . 0.0009 . . 0.0026 . 0.0016 0.0029 . 0.003 0.0031 . . . . . 0.41558442 . . @ 32 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 77.0 . . . 0.0007 0.0017 0.0022 0.0007 0.0017 0.0022 . 0.1394 . . . . . . . . 2.131e-03 . . . 0.0005 0.0020 0.0007 0 0.0113 0.0023 0.0042 0.0015 0.0004 0.0020 0.0007 0 0.0094 0.0021 0.0058 0.0015 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.31 0.22 182 ENSG00000156304 SCAF4 SCAF4 . . . . . . 176 0.00270869 64976 168 0.00280065 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs147439688 . . . . . . . . . . . . . . . . . . . . . . . 0.001692 . . . . . 0.0005 0.0022 0.0007 0 5.798e-05 0.0075 0.0026 0.0018 0.0012 0.0006 0.0026 0 0 0 0.0066 0.0033 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0026 . . rs147439688 rs147439688 1 1538 10 1/0 0,255,255 +rs145945656 21 34161126 G A - C21orf62 1305 Chromosome 21 open reading frame 62 NM_001162495.2 -1 4121 660 NP_001155967.2 Q9NYP8 substitution downstream GRCh37 34161126 34161126 Chr21(GRCh37):g.34161126G>A *4947 *4947 NM_001162495.2:c.*4947C>T p.? p.? 4 5671 3' 97.2446 XI.33 0.987791 8.25928 97.2446 XI.33 0.987791 8.25928 0 rs145945656 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.004681 0.000687 0.000000 0.000000 0.001852 0.000000 0.005127 0.015482 0.005092 0.015482 145 6 0 0 3 0 77 54 5 30976 8728 838 302 1620 0 15018 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 145 6 0 0 3 0 77 54 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition C T C>T 0.000 0.367 255 PASS . 0.0018 . . 0.01 . 0.0008 . . 0.004 . . . . . . 0.44444445 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.1437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0008 . . . 0.36 0.29 182 ENSG00000205930 C21orf49 C21orf62-AS1 . . . . . . 234 0.00360133 64976 230 0.00383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0047 0 0 0.0019 0.0155 0.0051 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145945656 rs145945656 1 1538 10 1/0 0,255,255 +rs145945656 21 34161126 G A - C21orf62-AS1 1290 C21orf62 antisense RNA 1 NR_024622.1 1 1203 0 substitution intron GRCh37 34161126 34161126 Chr21(GRCh37):g.34161126G>A 434+114 434+114 NR_024622.1:n.434+114G>A p.? p.? 3 3 114 5' 85.2503 8.22968 0.83655 6.40487 85.2503 8.22968 0.83655 6.40487 0 rs145945656 yes no Frequency/1000G 2 G 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.004000 0.000000 0.004681 0.000687 0.000000 0.000000 0.001852 0.000000 0.005127 0.015482 0.005092 0.015482 145 6 0 0 3 0 77 54 5 30976 8728 838 302 1620 0 15018 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 145 6 0 0 3 0 77 54 5 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transition G A G>A 0.000 0.367 255 PASS . 0.0018 . . 0.01 . 0.0008 . . 0.004 . . . . . . 0.44444445 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 36.0 . . . . . . . . . . -0.1437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . 0.0008 . . . 0.36 0.29 182 ENSG00000205930 C21orf49 C21orf62-AS1 . . . . . . 234 0.00360133 64976 230 0.00383423 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0047 0 0 0.0019 0.0155 0.0051 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145945656 rs145945656 1 1538 10 1/0 0,255,255 +rs17878639 21 34799217 G A - IFNGR2 5440 Interferon gamma receptor 2 NM_001329128.1 1 2278 1071 NP_001316057.1 substitution missense exon GRCh37 34799217 34799217 Chr21(GRCh37):g.34799217G>A 496 496 NM_001329128.1:c.496G>A p.Glu166Lys p.Glu166Lys 5 147569 27 3' 89.5086 8.59825 0.963833 VII.65 89.5086 8.59825 0.963833 6.86767 0 Cryptic Donor Strongly Activated 34799219 5.56535 0.358428 74.1084 6.77647 0.55775 76.8564 rs17878639 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.000998 0.000000 0.002000 0.000000 0.003000 0.000000 0.001365 0.000209 0.000436 0.000000 0.000053 0.003379 0.001848 0.000466 0.001084 0.003379 378 5 15 0 1 104 234 12 7 276962 23978 34398 10148 18866 30780 126596 25738 6458 0.000029 0.000000 0.000000 0.000000 0.000000 0.000260 0.000000 0.000000 0.000000 4 0 0 0 0 4 0 0 0 370 5 15 0 1 96 234 12 7 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8586 4405 12991 14 1 15 0.00162791 0.000226963 0.00115331 0.00162791 0.000226963 0.00115331 172 transition G A G>A 0.000 -2.216 E Glu GAG 0.583 K Lys AAG 0.575 166 12 5 Olive baboon 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 199.67 0.00 Tolerated 0.84 3.VI 255 PASS . . . . . . 0.001 . . 0.003 0.002 . IFNGR2:uc002yrp.4:exon4:c.G439A:p.E147K IFNGR2:NM_005534:exon4:c.G439A:p.E147K . . 0.33333334 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.026 . . 24.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E147K|IFNGR2|mRNA|CODING|NM_005534|NM_005534.ex.4) 0.0002 0.0012 0.0016 0.0002 0.0012 0.0016 . -1.8530 -1.960 -1.853 c . . . . . 1.563e-03 . . . 0 0.0017 0.0005 0.0002 0.0011 0.0018 0.0028 0.0038 0 0.0015 0.0004 0.0001 0.0008 0.0016 0.0014 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.291 . . exonic exonic exonic . . 0.002 0.0010 . . . 0.45 0.67 182 ENSG00000159128 IFNGR2 IFNGR2 . . . 1.000 0.747 . 81 0.00124661 64976 76 0.00126696 59986 Uncertain_significance . 0 . 0.002 . . . . T 0.146 0.006 . . 37 . 0.132 . . 0.241 . . . 0.351 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.105 . . 0 0 0 0 0 0 . 0.284 . . 0.286 . . . . . . 0 0.024 . . . . . 0.063 . 0.123 . HET 0.96 . . . . . . . . . . . . . III.64 5.35E-4 . V.34 -10.7 . 0.930000 . . . . 0.001153 . 0.055 . . . 6.539e-05 0.0014 0.0004 0 5.798e-05 0.0005 0.0019 0.0011 0.0034 0.0005 0.0010 0.0036 0 0 0.0003 0.0014 0.0010 . . 0.730 . -1.788 -1.788000 . . 0.930000 . . 1.0E-255 0.000 0.063 . 0.100 0.005 . 0.028 . 0.031 -1.788 -0.677 0.0016 rs17878639 rs17878639 rs17878639 rs17878639 1 1538 10 1/0 0,255,255 +rs112072426 21 35286681 G A - ATP5O 850 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit NM_001697.2 -1 806 642 NP_001688.1 P48047 substitution intron GRCh37 35286681 35286681 Chr21(GRCh37):g.35286681G>A 87+73 87+73 NM_001697.2:c.87+73C>T p.? p.? 2 2 600828 73 5' 80.5589 8.33662 0.916624 0 80.5589 8.33662 0.916624 0 0 Cryptic Acceptor Strongly Activated 35286664 2.04163 0.068649 75.2472 2.85062 0.150946 75.2472 rs112072426 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.003100 0.000000 0.006000 0.004300 0.002745 0.001031 0.002387 0.006623 0.000000 0.000000 0.004465 0.000861 0.002041 0.006623 85 9 2 2 0 0 67 3 2 30962 8730 838 302 1620 0 15006 3486 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 85 9 2 2 0 0 67 3 2 0 0 0 0 0 0 0 0 0 PASS 39 Genomes 3162 1383 4545 20 1 21 0.00628536 0.000722543 0.00459921 0.00628536 0.000722543 0.00459921 64 transition C T C>T 0.000 -0.198 255 PASS . 0.0018 0.0028 . 0.004 . 0.0024 0.0043 . 0.006 0.0031 . . . . . 0.375 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . INTRON(MODIFIER||||ATP5O|mRNA|CODING|NM_001697|) 0.0007 0.0046 0.0063 0.0007 0.0046 0.0063 . 0.1812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0024 . . . 0.37 0.24 182 ENSG00000241837 ATP5O ATP5O . . . . . . 350 0.0053866 64976 338 0.00563465 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs112072426 . . . . . . . . . . . . . . . . . . . . . . . 0.004599 . . . . . . . . . . . . . . 0.0010 0.0027 0.0024 0.0066 0 0.0009 0.0045 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0063 . . rs112072426 rs112072426 1 1538 10 1/0 0,255,255 +rs543619564 21 35469289 C T - MRPS6 14051 Mitochondrial ribosomal protein S6 NM_032476.3 1 990 378 NP_115865.1 P82932 substitution intron GRCh37 35469289 35469289 Chr21(GRCh37):g.35469289C>T 45+23244 45+23244 NM_032476.3:c.45+23244C>T p.? p.? 1 1 611973 23244 5' 91.0392 X.88 0.996096 12.1054 91.0392 X.88 0.996096 12.1054 0 rs543619564 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000106 0.000000 0.000358 0.000000 0.000000 0.000000 0.000126 0.000000 0.000000 0.000358 26 0 12 0 0 0 14 0 0 245424 15298 33554 9828 17242 30778 110976 22286 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 0 12 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 75 Exomes transition C T C>T 0.937 0.609 255 PASS . . . . . . 0.0002 0.0014 . . . . . SLC5A3:NM_006933:exon2:c.C1792T:p.L598F . . 0.47560975 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.317 . @ . . . . . 1 0.283 . . 82.0 . . . . . . . . . . -0.4261 -0.204 -0.426 c . . . . . 1.105e-04 . . . 0 0.0001 0.0009 0 0 0 0 0 0 0.0001 0.0009 0 0 7.363e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.865 . . exonic exonic exonic . . 0.346 0.0002 . . . . . . . SLC5A3 SLC5A3 . . . 1.000 0.448 . . . . . . . Uncertain_significance . 0 . 0.106 . . . . D 0.517 0.029 . . 37 . 0.689 . . 0.633 . . . 0.170 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.174 . . 0.112 . . . . . . 1 0.059 . . . . . 0.080 . 0.135 . HET 0.11 rs543619564 . . . . . . . . . . . . III.87 . ENST00000381151 6.VI 3.I . 0.740000 P53794 . . . . . 0.406 . . 3.I 0 0.0001 0.0004 0 0 0 0.0001 0 0 . . . . . . . . . . 0.854 . 1.583 1.583000 . . 0.740000 . . 1.0E-255 0.993 0.376 . 0.381 0.768 . 0.242 . 0.437 1.583 -0.058 . . . . . 1 1538 10 1/0 0,255,255 +rs543619564 21 35469289 C T - SLC5A3 11038 Solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 NM_006933.6 1 11623 2157 NP_008864.4 P53794 substitution missense exon GRCh37 35469289 35469289 Chr21(GRCh37):g.35469289C>T 1792 1792 NM_006933.6:c.1792C>T p.Leu598Phe p.Leu598Phe 2 600444 2128 3' 88.4307 X.37 0.946891 7.97143 88.4307 X.37 0.946891 7.97143 0 rs543619564 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.000106 0.000000 0.000358 0.000000 0.000000 0.000000 0.000126 0.000000 0.000000 0.000358 26 0 12 0 0 0 14 0 0 245424 15298 33554 9828 17242 30778 110976 22286 5462 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 0 12 0 0 0 14 0 0 0 0 0 0 0 0 0 0 0 PASS 75 Exomes transition C T C>T 0.937 0.609 L Leu CTT 0.129 F Phe TTT 0.454 598 12 5 Dolphin 1 0 0 0 0 4.IX 5.II 111 132 22 C0 353.86 0.00 Tolerated 0.24 III.36 255 PASS . . . . . . 0.0002 0.0014 . . . . . SLC5A3:NM_006933:exon2:c.C1792T:p.L598F . . 0.47560975 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.317 . @ . . . . . 1 0.283 . . 82.0 . . . . . . . . . . -0.4261 -0.204 -0.426 c . . . . . 1.105e-04 . . . 0 0.0001 0.0009 0 0 0 0 0 0 0.0001 0.0009 0 0 7.363e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.865 . . exonic exonic exonic . . 0.346 0.0002 . . . . . . . SLC5A3 SLC5A3 . . . 1.000 0.448 . . . . . . . Uncertain_significance . 0 . 0.106 . . . . D 0.517 0.029 . . 37 . 0.689 . . 0.633 . . . 0.170 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.078 . . 0 0 0 0 0 0 . 0.174 . . 0.112 . . . . . . 1 0.059 . . . . . 0.080 . 0.135 . HET 0.11 rs543619564 . . . . . . . . . . . . III.87 . ENST00000381151 6.VI 3.I . 0.740000 P53794 . . . . . 0.406 . . 3.I 0 0.0001 0.0004 0 0 0 0.0001 0 0 . . . . . . . . . . 0.854 . 1.583 1.583000 . . 0.740000 . . 1.0E-255 0.993 0.376 . 0.381 0.768 . 0.242 . 0.437 1.583 -0.058 . . . . . 1 1538 10 1/0 0,255,255 +rs202068364 21 36164622 A C - RUNX1 10471 Runt-related transcription factor 1 NM_001754.4 -1 5967 1443 NP_001745.2 substitution missense exon GRCh37 36164622 36164622 Chr21(GRCh37):g.36164622A>C 1253 1253 NM_001754.4:c.1253T>G p.Met418Arg p.Met418Arg 9 151385 286 3' 77.0002 9.27873 0.888448 XI.51 77.0002 9.27873 0.888448 XI.51 0 New Acceptor Site 36164621 0.144221 0.725555 Runx inhibition Acute myeloid leukemia 1 protein (AML 1)/Runt Transcription factor, Runt-related, RUNX rs202068364 yes no Frequency/1000G 2 A uncertain_significance 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000061 0.000000 0.000000 0.000000 0.000000 0.000000 0.000095 0.000180 0.000206 0.000180 11 0 0 0 0 0 7 3 1 181752 16670 25088 8520 12768 23338 73804 16704 4860 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 7 3 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes RCV000456503.1 germline clinical testing VUS 1 Familial platelet disorder with associated myeloid malignancy transversion T G T>G 1.000 4.402 M Met ATG 1.000 R Arg AGG 0.207 418 15 9 Fugu -1 -1 -3 0 0.65 5.VII 10.V 105 124 91 C0 353.86 0.00 Tolerated 0.17 III.55 unknown 0.0 0.0 188 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.13043478 . . @ 9 . . 1.2.2016 0 0 0 0 0 0 0 0 1 1 0 0 . . . . . . 0.486 . @ . . . . . 1 0.425 . . 69.0 . . . . . . . . . . 0.4512 0.511 0.451 c . . . . . 1.033e-04 . . . 0 0.0001 0 0 0.0714 0.0002 0 0 0 0.0003 0 0 0.0357 0.0007 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.407 . . exonic exonic exonic . . 0.682 0.0002 . . . 0.23 0.34 182 ENSG00000159216 RUNX1 RUNX1 . . . 1.000 0.747 . . . . . . . Benign . 0 . 0.843 . . . . . . . . . 37 . 0.504 . . 0.585 . . . 0.570 0.588 . . . . 1 0 0 0 0 0 0 1 0 0 0 0.808 . . 0 0 0 0 0 0 . 0.475 . . 0.460 . . . . . . 0 0.912 . . . . . 0.672 . 0.887 . LowAF 0 rs202068364 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 14.5012 . . 5.VIII 5.VIII . 0.000000 . . . . . . 0.804 . . 5.VIII 0 5.286e-05 0 0 0 7.534e-05 0.0001 0.0003 0 0 9.87e-05 0 0 0 0.0006 6.822e-05 0 . . 0.495 . 1.908 1.908000 . . 0.000000 . . 1.0E-188 1.000 0.715 . 0.888 1.000 . 0.907 . 0.901 1.908 1.039 0.0013 . . rs202068364 rs202068364 1 1538 10 1/0 0,244,255 +. 21 37518467 CAGA C - CBR3 1549 Carbonyl reductase 3 NM_001236.3 1 1112 834 NP_001227.1 O75828 deletion in-frame exon GRCh37 37518470 37518472 Chr21(GRCh37):g.37518470_37518472del 494 496 NM_001236.3:c.494_496del p.Glu165del p.Glu165del 3 603608 97 3' 93.3257 X.13 0.930825 7.27219 93.3257 X.13 0.930825 7.27219 0 rs560081575 yes no Frequency 1 0.000000 0 0.000177 0.000208 0.000000 0.000099 0.000000 0.000032 0.000308 0.000039 0.000309 0.000308 49 5 0 1 0 1 39 1 2 277216 24026 34416 10152 18870 30782 126714 25788 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 5 0 1 0 1 39 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8250 4254 12504 4 10 14 0.000484614 0.00234522 0.00111839 0.000484614 0.00234522 0.00111839 92 AAG 255 Pass . . . . . . . . . . . ENSG00000159231:ENST00000290354:exon3:c.492_494del:p.164_165del CBR3:uc002yve.3:exon3:c.492_494del:p.164_165del CBR3:NM_001236:exon3:c.492_494del:p.164_165del . . 0.45333335 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 75 . . . 0.0023 0.0011 0.0005 0.0023 0.0011 0.0005 . . . . . . . . . . 1.736e-04 . . . 9.628e-05 0.0002 0 0 0 0.0003 0 6.06e-05 0.0001 0.0002 0 0 0 0.0003 0 6.095e-05 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000159231 CBR3 CBR3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs560081575 . . . . . . . . . . . . . . . . . . . . . . . 0.001118 . . . . . 0.0001 0.0002 0 0.0001 0 4.484e-05 0.0003 0.0004 3.249e-05 0.0003 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0023 . . . . 1 1538 10 1.I 0,12,34 +. 21 37518467 CAGA C - CBR3-AS1 43664 CBR3 antisense RNA 1 NR_038892.1 -1 1575 0 deletion intron GRCh37 37518468 37518470 Chr21(GRCh37):g.37518468_37518470del 192+84 192+86 NR_038892.1:n.192+84_192+86del p.? p.? 2 2 84 5' 95.331 X.37 0.99512 X.65 95.331 X.37 0.99512 X.65 0 New Donor Site 37518471 7.21055 0.895797 74.1084 rs560081575 yes no Frequency 1 0.000000 0 0.000177 0.000208 0.000000 0.000099 0.000000 0.000032 0.000308 0.000039 0.000309 0.000308 49 5 0 1 0 1 39 1 2 277216 24026 34416 10152 18870 30782 126714 25788 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 5 0 1 0 1 39 1 2 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8250 4254 12504 4 10 14 0.000484614 0.00234522 0.00111839 0.000484614 0.00234522 0.00111839 92 TCT 255 Pass . . . . . . . . . . . ENSG00000159231:ENST00000290354:exon3:c.492_494del:p.164_165del CBR3:uc002yve.3:exon3:c.492_494del:p.164_165del CBR3:NM_001236:exon3:c.492_494del:p.164_165del . . 0.45333335 . . . 34 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 75 . . . 0.0023 0.0011 0.0005 0.0023 0.0011 0.0005 . . . . . . . . . . 1.736e-04 . . . 9.628e-05 0.0002 0 0 0 0.0003 0 6.06e-05 0.0001 0.0002 0 0 0 0.0003 0 6.095e-05 nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000159231 CBR3 CBR3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs560081575 . . . . . . . . . . . . . . . . . . . . . . . 0.001118 . . . . . 0.0001 0.0002 0 0.0001 0 4.484e-05 0.0003 0.0004 3.249e-05 0.0003 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0023 . . . . 1 1538 10 1.I 0,12,34 +rs150665851 21 38128931 C T - HLCS 4976 Holocarboxylase synthetase NM_001352514.1 -1 8295 2622 NP_001339443.1 substitution missense exon GRCh37 38128931 38128931 Chr21(GRCh37):g.38128931C>T 2362 2362 NM_001352514.1:c.2362G>A p.Val788Met p.Val788Met 10 609018 -89 5' 90.1175 8.94121 0.949337 3.69165 90.1175 8.94121 0.949337 3.69165 0 rs150665851 yes no Frequency/1000G 2 C likely_benign 0.000000 0 0.001997 0.000000 0.001000 0.000000 0.008000 0.001400 0.004718 0.000957 0.001511 0.008865 0.000000 0.003054 0.005130 0.013804 0.006650 0.013804 1308 23 52 90 0 94 650 356 43 277218 24030 34418 10152 18870 30782 126710 25790 6466 0.000036 0.000000 0.000000 0.000197 0.000000 0.000195 0.000016 0.000000 0.000000 5 0 0 1 0 3 1 0 0 1298 23 52 88 0 88 648 356 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4401 12965 36 5 41 0.00418605 0.00113482 0.00315239 0.00418605 0.00113482 0.00315239 208 RCV000430485.1 germline clinical testing Likely benign 1 not provided COSM6026664 Large intestine 0.000886 2257 transition G A G>A 0.362 0.528 V Val GTG 0.468 M Met ATG 1.000 788 13 7 Frog 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 353.86 0.00 Tolerated 0.22 II.66 255 PASS . 0.0032 0.01 . 0.01 . 0.002 0.0014 . 0.008 0.001 . . . . . 0.3943662 . . @ 28 . . 1.2.2016 0 0 0 0 0 0 1 0 1 0 0 0 . . . . . . 0.388 . @ . . . . . 1 0.606 . . 71.0 . . . 0.0011 0.0032 0.0042 0.0011 0.0032 0.0042 . -0.6719 -0.772 -0.672 c . . . . . 4.909e-03 . . . 0.0008 0.0034 0.0016 0 0.0145 0.0043 0.0028 0.0027 0.0009 0.0050 0.0016 0 0.0160 0.0065 0.0043 0.0027 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.970 . . exonic exonic exonic . . 0.228 0.0020 . . . 0.29 0.29 182 ENSG00000159267 HLCS HLCS . . . 1.000 0.489 . 335 0.00515575 64976 325 0.00541793 59986 Likely_benign . 0 . 0.263 . . . . . . . . . 37 . 0.920 . . 0.904 . . . 0.520 0.326 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.297 . . 0 0 0 0 0 0 . 0.381 . . 0.396 . . . . . . 0 0.682 . . . . . 0.404 . 0.321 . HET 0.01 rs150665851 . . . . . . . 0.003205128205128205 0.0 0.0055248618784530384 0.0 0.006596306068601583 IX.21 8.03E-4 . IV.74 I.63 . 0.350000 P50747 . . . 0.003152 . 0.236 . . . 0.0008 0.0046 0.0015 0.0088 0 0.0134 0.0051 0.0047 0.0031 0.0013 0.0056 0.0012 0.0099 0 0.0166 0.0056 0.0173 . . 0.428 . 0.382 0.382000 . . 0.350000 . . 1.0E-255 0.288 0.250 . 0.138 0.860 . 0.286 . 0.140 0.382 0.871 0.01 . . rs150665851 rs150665851 1 1538 10 1/0 0,255,255 +rs1787365 21 38531921 C A - TTC3 12393 Tetratricopeptide repeat domain 3 NM_001320703.1 1 7987 6198 NP_001307632.1 substitution intron GRCh37 38531921 38531921 Chr21(GRCh37):g.38531921C>A 3113-80 3113-80 NM_001320703.1:c.3113-80C>A p.? p.? 30 29 602259 -80 3' 85.5061 8.08458 0.915323 5.95813 85.5061 8.08458 0.915323 6.16928 0 rs1787365 yes no Frequency/1000G 2 A 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999968 1.000000 0.998807 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 30989 8736 837 302 1622 0 15016 3494 982 30990 8736 838 302 1622 0 15016 3494 982 0.499984 0.500000 0.499403 0.500000 0.500000 0.000000 0.500000 0.500000 0.500000 15494 4368 418 151 811 0 7508 1747 491 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 47 Genomes transversion C A C>A 0.000 -0.602 111 PASS 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. 1. . . . . . 1.0 . . @ 83 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 83.0 . . . . . . . . . . 0.0795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0000 . . . 0.48 0.25 182 ENSG00000182670 TTC3 TTC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1787365 1.000 1.000 . . . . . . . . . . . . . . . . . . . . Name\x3ddgv70n68 . . . . . . . . . . . . . . . 1 1.0000 0.9988 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1787365 rs1787365 rs1787365 rs1787365 1 1538 255 1.I 0,0,255 +. 21 38539746 A AA - TTC3 12393 Tetratricopeptide repeat domain 3 NM_001320703.1 1 7987 6198 NP_001307632.1 duplication intron GRCh37 38539753 38539754 Chr21(GRCh37):g.38539753dup 4522-104 4522-104 NM_001320703.1:c.4522-104dup p.? p.? 35 34 602259 -103 3' 92.152 12.0988 0.993446 8.05092 92.152 12.0988 0.993446 8.05092 0 rs5843802 yes no Frequency/1000G 2 0.000000 0 0.999800 1.000000 1.000000 0.999000 1.000000 1.000000 0.999578 0.999195 1.000000 1.000000 0.999382 0.000000 0.999666 1.000000 1.000000 1.000000 30777 8693 826 298 1617 0 14967 3400 976 30790 8700 826 298 1618 0 14972 3400 976 0.499789 0.499597 0.500000 0.500000 0.499691 0.000000 0.499833 0.500000 0.500000 15382 4343 413 149 808 0 7481 1700 488 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.8666667 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 30 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000182670 TTC3 TTC3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv70n68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs34865309 . . 1 1538 10 1.I 0,5,6 +. 21 38588731 T A - DSCR9 16301 Down syndrome critical region 9 (non-protein coding) NR_026719.2 1 1644 0 substitution intron GRCh37 38588731 38588731 Chr21(GRCh37):g.38588731T>A 146-3808 146-3808 NR_026719.2:n.146-3808T>A p.? p.? 3 2 -3808 3' 81.7191 5.35539 0.245659 6.65534 81.7191 5.35539 0.245659 6.65534 0 rs1018075947 yes no Frequency 1 T 0.000000 0 transversion T A T>A 0.449 0.125 255 PASS . . . . . . . . . . . . DSCR9:uc031rvh.1:exon4:c.T211A:p.L71M . . . 0.4347826 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . INTRON(MODIFIER||||DSCR9|Non-coding_transcript|NON_CODING|NR_026719|) . . . . . . . -0.0002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_intronic . . . @ . . . . . . ENSG00000230366 DSCR9 DSCR9 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv70n68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 21 40622761 T C - BRWD1 12760 Bromodomain and WD repeat domain containing 1 NM_018963.4 -1 8806 6963 NP_061836.2 Q9NSI6 substitution missense exon GRCh37 40622761 40622761 Chr21(GRCh37):g.40622761T>C 2310 2310 NM_018963.4:c.2310A>G p.Ile770Met p.Ile770Met 20 617824 -40 5' 81.2188 9.23916 0.956904 0 81.2188 9.23916 0.956904 0 0 transition A G A>G 0.315 -0.440 I Ile ATA 0.163 M Met ATG 1.000 770 11 5 Cow 2 1 2 0 0 5.II 5.VII 111 105 10 C0 164.38 0.00 Tolerated 0.13 III.35 255 PASS . . . . . . . . . . . . . . . . 0.6097561 . . @ 25 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.209 . @ . . . . . 1 0.338 . . 41.0 . . . . . . . . . . -0.2260 -0.293 -0.226 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.546 . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000185658 BRWD1 BRWD1 . . . 0.081 0.159 . . . . . . . Uncertain_significance . 0 . 0.130 . . . . T 0.475 0.024 . . 37 . 0.392 . . 0.421 . . . 0.543 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.338 . . 0.434 . . . . . . 0 0.228 . . . . . 0.029 . 0.210 . HET 0.12 . . . . . . . . . . . . . 1.802 . ENST00000455867 IV.85 -1.61 . 0.180000 . . . . . . 0.226 . . . . . . . . . . . . . . . . . . . . . . 0.465 . -0.087 -0.087000 . . 0.180000 . . 1.0E-255 0.000 0.063 . 0.750 0.998 . 0.051 . 0.807 -0.087 0.047 . . . . . 1 1538 10 1/0 0,255,255 +rs201537681 21 40630425 T C - BRWD1 12760 Bromodomain and WD repeat domain containing 1 NM_018963.4 -1 8806 6963 NP_061836.2 Q9NSI6 substitution missense exon GRCh37 40630425 40630425 Chr21(GRCh37):g.40630425T>C 2059 2059 NM_018963.4:c.2059A>G p.Thr687Ala p.Thr687Ala 18 617824 -13 5' 79.2237 7.95527 0.840151 0 79.2237 7.95527 0.840151 0 0 rs201537681 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000017 0.000000 0.000000 0.000000 0.000181 0.000035 0.000000 0.000000 0.000000 0.000181 4 0 0 0 3 1 0 0 0 235516 14894 30584 9454 16552 28332 108336 22136 5228 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 54 Exomes transition A G A>G 1.000 3.918 T Thr ACA 0.280 A Ala GCA 0.226 687 11 8 Chicken 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 158.11 25.33 Tolerated 0.28 III.35 255 PASS . 0.0005 . 0.0017 . . 0.0004 . 0.002 . . . . . . . 0.5952381 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.303 . @ . . . . . 1 0.733 . . 42.0 . . . . . . . . . . 0.1345 0.249 0.135 c . . . . . 3.157e-05 . . . 0 4.444e-05 0 0.0007 0 0 0 0 0 2.844e-05 0 0.0004 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.561 . . exonic exonic exonic . . 0.799 0.0004 . . . 0.49 0.68 182 ENSG00000185658 BRWD1 BRWD1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.466 . . . . T 0.442 0.021 . . 37 . 0.650 . . 0.611 . . . 0.697 0.548 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.437 . . 0 0 0 0 0 0 . 0.764 . . 0.782 . . . . . . 0 0.395 . . . . . 0.645 . 0.713 . HET 0.1 rs201537681 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0017482517482517483 0.0 14.1079 . . V.46 V.46 . 0.420000 . . . . . . 0.958 . . V.46 0 1.698e-05 0 0 0.0002 0 0 0 3.53e-05 . . . . . . . . . . 0.465 . 2.090 2.090000 . . 0.420000 . . 1.0E-255 1.000 0.715 . 0.502 0.964 . 0.729 . 0.807 2.090 0.991 0.0017 . . rs201537681 rs201537681 1 1538 10 1/0 0,255,255 +. 21 40717035 TCACA T - HMGN1 4984 High mobility group nucleosome binding domain 1 NM_004965.6 -1 1304 303 NP_004956.5 P05114 deletion intron GRCh37 40717036 40717039 Chr21(GRCh37):g.40717036_40717039del 255+33 255+36 NM_004965.6:c.255+33_255+36del p.? p.? 5 5 163920 33 5' 81.7339 5.24236 0.505674 0 81.7339 5.24236 0.505674 0 0 rs574885349 yes no Frequency/1000G 2 0.499390 - 2458 0.490815 0.447000 0.518400 0.439500 0.505000 0.589300 TGTG 255 Pass . . . . . . . . . . . . . . . . 0.47826087 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 23 . . INTRON(MODIFIER||||HMGN1|mRNA|CODING|NM_004965|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000205581 HMGN1 HMGN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3067492 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv913744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . rs72349214 rs72349214 rs72349214 1 1538 10 1.I 0,12,32 +. 21 44486550 A AC - CBS 1550 Cystathionine-beta-synthase NM_000071.2 -1 2590 1656 NP_000062.1 P35520 duplication intron GRCh37 44486550 44486551 Chr21(GRCh37):g.44486551dup 317-64 317-64 NM_000071.2:c.317-64dup p.? p.? 5 4 613381 -63 3' 81.9599 6.16805 0.754214 XII.07 81.9599 6.16805 0.754214 XII.01 0 New Donor Site 44486551 5.97401 0.331101 77.8436 rs772361626 yes no Frequency 1 0.000000 0 0.005581 0.000703 0.003632 0.000000 0.000000 0.000000 0.006219 0.016063 0.014768 0.016063 168 6 3 0 0 0 90 55 14 30102 8530 826 298 1604 0 14472 3424 948 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 168 6 3 0 0 0 90 55 14 0 0 0 0 0 0 0 0 0 PASS 40 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.55813956 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000160200 CBS CBS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs772361626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0056 0.0036 0 0 0.0161 0.0062 0.0148 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,25 +. 21 44486550 A AC - CBSL 51829 Cystathionine-beta-synthase like NM_001354014.1 -1 2647 1698 NP_001340943.1 duplication intron GRCh37 44486550 44486551 Chr21(GRCh37):g.44486551dup 317-64 317-64 NM_001354014.1:c.317-64dup p.? p.? 5 4 -63 3' 81.9599 6.16805 0.754214 XII.07 81.9599 6.16805 0.754214 XII.01 0 New Donor Site 44486551 5.97401 0.331101 77.8436 rs772361626 yes no Frequency 1 0.000000 0 0.005581 0.000703 0.003632 0.000000 0.000000 0.000000 0.006219 0.016063 0.014768 0.016063 168 6 3 0 0 0 90 55 14 30102 8530 826 298 1604 0 14472 3424 948 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 168 6 3 0 0 0 90 55 14 0 0 0 0 0 0 0 0 0 PASS 40 Genomes G 255 Pass . . . . . . . . . . . . . . . . 0.55813956 . . . 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000160200 CBS CBS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs772361626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0056 0.0036 0 0 0.0161 0.0062 0.0148 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,25 +rs117791519 21 45949769 G A - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution synonymous exon GRCh37 45949769 45949769 Chr21(GRCh37):g.45949769G>A 702 702 NM_144991.2:c.702C>T p.Asn234= p.Asn234Asn 5 612920 69 3' 88.5004 XI.43 0.965595 8.12245 88.5004 XI.43 0.965595 7.86164 0 rs117791519 yes no Frequency/1000G 2 G benign 0.000000 0 0.002196 0.001500 0.000000 0.000000 0.008000 0.001400 0.004626 0.001251 0.001542 0.000000 0.000106 0.000292 0.008657 0.002494 0.004190 0.008657 1277 30 53 0 2 9 1093 63 27 276056 23982 34360 10114 18864 30778 126254 25260 6444 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 5 0 0 0 0 0 5 0 0 1267 30 53 0 2 9 1083 63 27 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8549 4402 12951 51 4 55 0.00593023 0.000907853 0.00422882 0.00593023 0.000907853 0.00422882 44 RCV000214464.1 germline clinical testing Benign 1 not specified transition C T C>T 0.000 -1.409 N Asn AAC 0.536 N Asn AAT 0.464 234 255 PASS 0.002 0.0037 . . 0.01 0.0015 0.0022 0.0014 . 0.008 . . . . . . 0.49173555 . . germline 119 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . Benign Benign RCV000214464.1 not_specified MedGen CN169374 2 . . . 242.0 . . . 0.0009 0.0042 0.0059 0.0009 0.0042 0.0059 . 0.0490 . . . . . . . . 4.831e-03 . . . 0.0012 0.0032 0.0011 0 0.0021 0.0059 0.0043 0.0003 0.0011 0.0049 0.0011 0 0.0026 0.0087 0.0044 0.0003 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0022 . . . 0.2 0.39 182 ENSG00000175894 TSPEAR TSPEAR . . . . . . 391 0.00601761 64976 380 0.00633481 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 1 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.004229 . . . . . 0.0012 0.0045 0.0016 0 0.0001 0.0024 0.0085 0.0044 0.0003 0.0014 0.0056 0 0 0 0.0032 0.0098 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs117791519 rs117791519 1 1538 10 1/0 0,223,247 +rs62218857 21 45959557 A T - KRTAP10-1 22966 Keratin associated protein 10-1 NM_198691.2 -1 1011 849 NP_941964.2 P60331 substitution missense exon GRCh37 45959557 45959557 Chr21(GRCh37):g.45959557A>T 477 477 NM_198691.2:c.477T>A p.Asp159Glu p.Asp159Glu 1 Keratin, high sulphur B2 protein rs62218857 yes no Frequency/1000G 2 A 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 7695 3962 11657 905 444 1349 0.105233 0.100772 0.103721 0.105233 0.100772 0.103721 104 COSM4004816|COSM4004816|COSM4004816 Urinary tract|Haematopoietic and lymphoid tissue|Breast 0.005952|0.000567|0.000408 672|3530|2453 transversion T A T>A 0.000 -0.521 D Asp GAT 0.461 E Glu GAA 0.417 159 9 3 Macaque 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 353.86 0.00 Tolerated 1 IV.32 unknown 0.0 0.0 255 PASS . . . . . 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.T477A:p.D159E KRTAP10-1:uc002zfh.1:exon1:c.T477A:p.D159E KRTAP10-1:NM_198691:exon1:c.T477A:p.D159E . . 0.5140187 . . @ 110 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.046 . . 214.0 . . . 0.1 0.1 0.11 0.1 0.1 0.11 . -1.1478 -1.299 -1.148 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.048 0.3980 . . . 0.12 0.1 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.059 0.152 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.431 . . . 0.659 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.209 . . 0.158 . . . . . . 2 0.028 . . . . . 0.034 . 0.021 . HET 0.72 . . . . . . . . . . . . . 2.0978 0.149545 . 2.VI -3.21 . 0.100000 P60331 . . . 0.103721 . 0.053 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.637 -0.637000 . . 0.100000 . . 1.0E-255 0.001 0.137 . 0.152 0.257 . 0.123 . 0.099 -0.637 -0.607 0.11 rs62218857 rs62218857 rs62218857 rs62218857 1 1538 10 1/0 0,227,241 +rs62218857 21 45959557 A T - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 45959557 45959557 Chr21(GRCh37):g.45959557A>T 304-5751 304-5751 NM_144991.2:c.304-5751T>A p.? p.? 3 2 612920 -5751 3' 77.2848 8.79538 0.9255 8.85608 77.2848 8.79538 0.9255 8.85608 0 rs62218857 yes no Frequency/1000G 2 A 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 7695 3962 11657 905 444 1349 0.105233 0.100772 0.103721 0.105233 0.100772 0.103721 104 COSM4004816|COSM4004816|COSM4004816 Urinary tract|Haematopoietic and lymphoid tissue|Breast 0.005952|0.000567|0.000408 672|3530|2453 transversion T A T>A 0.000 -0.521 255 PASS . . . . . 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.T477A:p.D159E KRTAP10-1:uc002zfh.1:exon1:c.T477A:p.D159E KRTAP10-1:NM_198691:exon1:c.T477A:p.D159E . . 0.5140187 . . @ 110 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.046 . . 214.0 . . . 0.1 0.1 0.11 0.1 0.1 0.11 . -1.1478 -1.299 -1.148 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.048 0.3980 . . . 0.12 0.1 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.059 0.152 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.431 . . . 0.659 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.164 . . 0 0 0 0 0 0 . 0.209 . . 0.158 . . . . . . 2 0.028 . . . . . 0.034 . 0.021 . HET 0.72 . . . . . . . . . . . . . 2.0978 0.149545 . 2.VI -3.21 . 0.100000 P60331 . . . 0.103721 . 0.053 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -0.637 -0.637000 . . 0.100000 . . 1.0E-255 0.001 0.137 . 0.152 0.257 . 0.123 . 0.099 -0.637 -0.607 0.11 rs62218857 rs62218857 rs62218857 rs62218857 1 1538 10 1/0 0,227,241 +rs62218858 21 45959558 T G - KRTAP10-1 22966 Keratin associated protein 10-1 NM_198691.2 -1 1011 849 NP_941964.2 P60331 substitution missense exon GRCh37 45959558 45959558 Chr21(GRCh37):g.45959558T>G 476 476 NM_198691.2:c.476A>C p.Asp159Ala p.Asp159Ala 1 Keratin, high sulphur B2 protein rs62218858 yes no Frequency/1000G 2 T 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244814 14992 33510 9808 17216 30758 110804 22266 5460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 324 Exomes 7597 3925 11522 1003 481 1484 0.116628 0.109169 0.114101 0.116628 0.109169 0.114101 103 COSM4004817|COSM4004817|COSM4004817|COSM4004817 Urinary tract|Pancreas|Haematopoietic and lymphoid tissue|Breast 0.008929|0.000569|0.000567|0.000408 672|1758|3530|2453 transversion A C A>C 0.000 -1.489 D Asp GAT 0.461 A Ala GCT 0.263 159 9 3 Macaque -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 353.86 0.00 Tolerated 0.78 IV.32 unknown 0.0 0.0 255 PASS 0.52 0.5 0.6 0.42 0.49 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.A476C:p.D159A KRTAP10-1:uc002zfh.1:exon1:c.A476C:p.D159A KRTAP10-1:NM_198691:exon1:c.A476C:p.D159A . . 0.5319149 . . @ 125 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.039 . . 235.0 . . . 0.11 0.11 0.12 0.11 0.11 0.12 . -2.1549 -2.171 -2.155 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.034 0.3980 . . . 0.12 0.13 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.374 0.199 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.255 . . . 0.012 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.153 . 0.022 . HET 1 . . . . . . . . 0.49862637362637363 0.524390243902439 0.5994475138121547 0.4230769230769231 0.49076517150395776 V.99 0.153558 . II.19 -4.38 . 1.000000 P60331 . . . 0.114101 . 0.011 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.184 -1.184000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.074 0.218 . 0.027 . 0.016 -1.184 -1.444 0.6 rs62218858 rs62218858 rs62218858 rs62218858 1 1538 10 1/0 0,223,235 +rs62218858 21 45959558 T G - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 45959558 45959558 Chr21(GRCh37):g.45959558T>G 304-5752 304-5752 NM_144991.2:c.304-5752A>C p.? p.? 3 2 612920 -5752 3' 77.2848 8.79538 0.9255 8.85608 77.2848 8.79538 0.9255 8.85608 0 Cryptic Acceptor Strongly Activated 45959538 3.71724 0.185467 78.4396 4.68693 0.213152 78.4396 rs62218858 yes no Frequency/1000G 2 T 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 244814 14992 33510 9808 17216 30758 110804 22266 5460 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 324 Exomes 7597 3925 11522 1003 481 1484 0.116628 0.109169 0.114101 0.116628 0.109169 0.114101 103 COSM4004817|COSM4004817|COSM4004817|COSM4004817 Urinary tract|Pancreas|Haematopoietic and lymphoid tissue|Breast 0.008929|0.000569|0.000567|0.000408 672|1758|3530|2453 transversion A C A>C 0.000 -1.489 255 PASS 0.52 0.5 0.6 0.42 0.49 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.A476C:p.D159A KRTAP10-1:uc002zfh.1:exon1:c.A476C:p.D159A KRTAP10-1:NM_198691:exon1:c.A476C:p.D159A . . 0.5319149 . . @ 125 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.002 . @ . . . . . 1 0.039 . . 235.0 . . . 0.11 0.11 0.12 0.11 0.11 0.12 . -2.1549 -2.171 -2.155 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.007 . . exonic exonic exonic . . 0.034 0.3980 . . . 0.12 0.13 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.374 0.199 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.255 . . . 0.012 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.162 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 2 0.010 . . . . . 0.153 . 0.022 . HET 1 . . . . . . . . 0.49862637362637363 0.524390243902439 0.5994475138121547 0.4230769230769231 0.49076517150395776 V.99 0.153558 . II.19 -4.38 . 1.000000 P60331 . . . 0.114101 . 0.011 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . 0.133 . -1.184 -1.184000 . . 1.000000 . . 1.0E-255 0.000 0.063 . 0.074 0.218 . 0.027 . 0.016 -1.184 -1.444 0.6 rs62218858 rs62218858 rs62218858 rs62218858 1 1538 10 1/0 0,223,235 +rs62218859 21 45959559 C A - KRTAP10-1 22966 Keratin associated protein 10-1 NM_198691.2 -1 1011 849 NP_941964.2 P60331 substitution missense exon GRCh37 45959559 45959559 Chr21(GRCh37):g.45959559C>A 475 475 NM_198691.2:c.475G>T p.Asp159Tyr p.Asp159Tyr 1 Keratin, high sulphur B2 protein rs62218859 yes no Frequency/1000G 2 C 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 5893 2899 8792 2707 1507 4214 0.314767 0.342034 0.324004 0.314767 0.342034 0.324004 103 COSM1732400|COSM1732400|COSM1732400|COSM1732400 Urinary tract|Soft tissue|Haematopoietic and lymphoid tissue|Breast 0.008929|0.001838|0.000567|0.000408 672|544|3530|2453 transversion G T G>T 0.000 -0.037 D Asp GAT 0.461 Y Tyr TAT 0.438 159 9 3 Macaque -2 -3 -6 I.38 0.2 13 6.II 54 136 160 C0 353.86 0.00 Tolerated 0.08 IV.32 unknown 0.0 0.0 255 PASS 0.55 0.51 0.6 0.43 0.5 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.G475T:p.D159Y KRTAP10-1:uc002zfh.1:exon1:c.G475T:p.D159Y KRTAP10-1:NM_198691:exon1:c.G475T:p.D159Y . . 0.46825397 . . @ 118 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.024 . . 252.0 . . . 0.34 0.32 0.31 0.34 0.32 0.31 . -1.4085 -1.595 -1.409 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.085 0.3980 . . . 0.09 0.1 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.020 0.132 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.098 . . . 0.659 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.408 . . 0.364 . . . . . . 2 0.424 . . . . . 0.044 . 0.072 . HET 0.04 . . . . . . . . 0.510989010989011 0.5467479674796748 0.6049723756906077 0.43356643356643354 0.5013192612137203 II.78 0.37908 . II.19 -1.37 . 0.040000 P60331 . . . 0.324004 . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.167 -1.167000 . . 0.040000 . . 1.0E-255 0.000 0.063 . 0.062 0.207 . 0.038 . 0.055 -1.167 -1.275 0.6 rs62218859 rs62218859 rs62218859 rs62218859 1 1538 10 1/0 0,216,234 +rs62218859 21 45959559 C A - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 45959559 45959559 Chr21(GRCh37):g.45959559C>A 304-5753 304-5753 NM_144991.2:c.304-5753G>T p.? p.? 3 2 612920 -5753 3' 77.2848 8.79538 0.9255 8.85608 77.2848 8.79538 0.9255 8.85608 0 rs62218859 yes no Frequency/1000G 2 C 0.000000 0 0.602037 0.695200 0.560300 0.492100 0.638200 0.590800 5893 2899 8792 2707 1507 4214 0.314767 0.342034 0.324004 0.314767 0.342034 0.324004 103 COSM1732400|COSM1732400|COSM1732400|COSM1732400 Urinary tract|Soft tissue|Haematopoietic and lymphoid tissue|Breast 0.008929|0.001838|0.000567|0.000408 672|544|3530|2453 transversion G T G>T 0.000 -0.037 255 PASS 0.55 0.51 0.6 0.43 0.5 0.7 0.6 0.59 0.49 0.64 0.56 ENSG00000215455:ENST00000400375:exon1:c.G475T:p.D159Y KRTAP10-1:uc002zfh.1:exon1:c.G475T:p.D159Y KRTAP10-1:NM_198691:exon1:c.G475T:p.D159Y . . 0.46825397 . . @ 118 . . 1.2.2016 1 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.024 . . 252.0 . . . 0.34 0.32 0.31 0.34 0.32 0.31 . -1.4085 -1.595 -1.409 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.008 . . exonic exonic exonic . . 0.085 0.3980 . . . 0.09 0.1 182 ENSG00000215455 KRTAP10-1 KRTAP10-1 . . . 0.020 0.132 . . . . . . . Benign . 0 . . . . . . . . . . . 37 . 0.000 . . 0.098 . . . 0.659 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.408 . . 0.364 . . . . . . 2 0.424 . . . . . 0.044 . 0.072 . HET 0.04 . . . . . . . . 0.510989010989011 0.5467479674796748 0.6049723756906077 0.43356643356643354 0.5013192612137203 II.78 0.37908 . II.19 -1.37 . 0.040000 P60331 . . . 0.324004 . 0.019 . . . . . . . . . . . . . . . . . . . . . . 0.133 . -1.167 -1.167000 . . 0.040000 . . 1.0E-255 0.000 0.063 . 0.062 0.207 . 0.038 . 0.055 -1.167 -1.275 0.6 rs62218859 rs62218859 rs62218859 rs62218859 1 1538 10 1/0 0,216,234 +rs383474 21 45994187 C T - KRTAP10-4 20521 Keratin associated protein 10-4 NM_198687.2 1 1643 1206 NP_941960.2 P60372 substitution synonymous exon GRCh37 45994187 45994187 Chr21(GRCh37):g.45994187C>T 552 552 NM_198687.2:c.552C>T p.Ser184= p.Ser184Ser 1 rs383474 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000450 0.000592 0.000292 0.000200 0.000434 0.000130 0.000657 0.000040 0.000488 0.000657 120 13 10 2 8 4 79 1 3 266854 21966 34222 10000 18430 30760 120242 25090 6144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 13 10 2 8 4 79 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4416365 Haematopoietic and lymphoid tissue 0.001416 3530 transition C T C>T 0.976 -0.037 S Ser AGC 0.243 S Ser AGT 0.149 184 174 PASS . . . . . . 0.0002 . 0.001 . . ENSG00000215454:ENST00000400374:exon1:c.C552T:p.S184S KRTAP10-4:uc002zfk.1:exon1:c.C552T:p.S184S KRTAP10-4:NM_198687:exon1:c.C552T:p.S184S . . 0.1017964 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . 0.2720 . . . . . . . . 1.588e-04 . . . 0 0.0002 8.864e-05 0.0002 0 0.0003 0 0.0002 0 0.0002 9.134e-05 0.0001 0 0.0002 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.24 0.09 182 ENSG00000215454 KRTAP10-4 KRTAP10-4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0 0.0001 0 0.0002 0 0.0001 0.0018 0.0033 0.0042 0.0078 0.0049 0.0003 0.0046 0.0041 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs383474 rs383474 rs383474 rs383474 1 1538 10 1/0 0,204,255 +rs383474 21 45994187 C T - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 45994187 45994187 Chr21(GRCh37):g.45994187C>T 83-6298 83-6298 NM_144991.2:c.83-6298G>A p.? p.? 2 1 612920 -6298 3' 89.1533 9.71676 0.984263 11.304 89.1533 9.71676 0.984263 11.304 0 rs383474 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.000450 0.000592 0.000292 0.000200 0.000434 0.000130 0.000657 0.000040 0.000488 0.000657 120 13 10 2 8 4 79 1 3 266854 21966 34222 10000 18430 30760 120242 25090 6144 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 13 10 2 8 4 79 1 3 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4416365 Haematopoietic and lymphoid tissue 0.001416 3530 transition G A G>A 0.976 -0.037 174 PASS . . . . . . 0.0002 . 0.001 . . ENSG00000215454:ENST00000400374:exon1:c.C552T:p.S184S KRTAP10-4:uc002zfk.1:exon1:c.C552T:p.S184S KRTAP10-4:NM_198687:exon1:c.C552T:p.S184S . . 0.1017964 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 167.0 . . . . . . . . . . 0.2720 . . . . . . . . 1.588e-04 . . . 0 0.0002 8.864e-05 0.0002 0 0.0003 0 0.0002 0 0.0002 9.134e-05 0.0001 0 0.0002 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0002 . . . 0.24 0.09 182 ENSG00000215454 KRTAP10-4 KRTAP10-4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0 0.0001 0 0.0002 0 0.0001 0.0018 0.0033 0.0042 0.0078 0.0049 0.0003 0.0046 0.0041 . . . . . . . . . . . 1.0E-174 . . . . . . . . . . . . rs383474 rs383474 rs383474 rs383474 1 1538 10 1/0 0,204,255 +rs2981629 21 46020473 C T - TSPEAR 1268 Thrombospondin-type laminin G domain and EAR repeats NM_144991.2 -1 3967 2010 NP_659428.2 Q8WU66 substitution intron GRCh37 46020473 46020473 Chr21(GRCh37):g.46020473C>T 83-32584 83-32584 NM_144991.2:c.83-32584G>A p.? p.? 2 1 612920 -32584 3' 89.1533 9.71676 0.984263 11.304 89.1533 9.71676 0.984263 11.304 0 rs2981629 yes no Frequency/1000G 2 0.000000 0 0.000459 0.001013 0.000286 0.001266 0.000783 0.000749 0.000241 0.000297 0.000805 0.001266 97 22 8 7 13 14 23 6 4 211140 21724 28004 5528 16602 18688 95430 20198 4966 0.000019 0.000000 0.000000 0.000000 0.000120 0.000000 0.000021 0.000000 0.000000 2 0 0 0 1 0 1 0 0 90 22 8 7 9 14 21 5 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.286 185 PASS . . . . . . . . . . . . . . . . 0.12418301 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 153.0 . . . . . . . . . . 0.0788 . . . . . . . . 9.699e-05 . . . 0.0001 4.691e-05 0 0.0002 0 3.128e-05 0 0 0.0001 5.274e-05 0 0.0002 0 4.813e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.31 0.22 182 ENSG00000175894 TSPEAR TSPEAR . . . . . . 3018 0.0464479 64976 1898 0.0316407 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0005 0.0003 0.0013 0.0008 0.0004 0.0003 0.0010 0.0007 0.0001 6.518e-05 0 0 0.0006 0 0 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs2981629 rs2981629 rs2981629 rs2981629 1 1538 10 1/0 0,210,255 +rs7276130 21 46392916 G A - FAM207A 15811 Family with sequence similarity 207 member A NM_058190.3 1 940 693 NP_478070.1 Q9NSI2 substitution intron GRCh37 46392916 46392916 Chr21(GRCh37):g.46392916G>A 501-196 501-196 NM_058190.3:c.501-196G>A p.? p.? 5 4 -196 3' 81.5654 8.91733 0.460852 9.62381 81.5654 8.91733 0.460852 9.62381 0 rs7276130 yes no Frequency/1000G 2 G 0.000000 0 0.000949 0.000740 0.001269 0.008850 0.001290 0.000000 0.001111 0.000294 0.000000 0.008850 27 6 1 2 2 0 15 1 0 28456 8108 788 226 1550 0 13496 3396 892 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 6 1 2 2 0 15 1 0 0 0 0 0 0 0 0 0 0 RF 51 Genomes transition G A G>A 0.000 0.367 192 PASS 0.15 0.24 0.28 0.28 0.25 . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . 0.2115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.26 0.11 182 ENSG00000160256 FAM207A FAM207A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs7276130 0.272 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0009 0.0013 0.0088 0.0013 0.0003 0.0011 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . 0.28 rs7276130 rs7276130 rs7276130 rs7276130 1 1538 10 1/0 0,255,255 +rs28696990 21 46924434 A C - COL18A1 2195 Collagen type XVIII alpha 1 chain ENST00000359759.8 1 6586 5265 ENSP00000352798 P39060 substitution synonymous exon GRCh37 46924434 46924434 Chr21(GRCh37):g.46924434A>C 4077 4077 ENST00000359759.8:c.4077A>C p.Pro1359= p.Pro1359Pro 33 120328 -37 5' 78.9497 9.09184 0.989003 9.22838 78.9497 9.09184 0.989003 9.57798 0 Cryptic Acceptor Strongly Activated 46924445 1.09503 0.262022 8.24668 0.686439 76.3559 rs28696990 no no 0 0.000000 0 0.001282 0.012855 0.000763 0.000000 0.000000 0.000114 0.000171 0.000000 0.000941 0.012855 278 232 22 0 0 3 16 0 5 216796 18048 28850 8944 15146 26418 93762 20316 5312 0.000037 0.000111 0.000000 0.000000 0.000000 0.000000 0.000064 0.000000 0.000000 4 1 0 0 0 0 3 0 0 270 230 22 0 0 3 10 0 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM5718480 Skin 0.000812 1232 transversion A C A>C 0.835 -0.682 P Pro CCA 0.274 P Pro CCC 0.328 1359 227 PASS . . . . . . . . . . . . . . . . 0.10294118 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 68.0 . . . . . . . . . . 0.9206 . . . . . . . . . . . . 0.1310 0.0105 0.03 0 0 0 0 0 0.1311 0.0078 0.0319 0 0 0 0 0 synonymous_SNV synonymous_SNV . . . . exonic exonic splicing . . . @ . . . 0.26 0.18 182 ENSG00000182871 COL18A1 COL18A1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . LowAF . rs28696990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0118 0.0008 0.0008 0 0 0 0.0002 0.0011 0.0001 0.0140 0.0040 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . rs28696990 rs28696990 rs28696990 rs28696990 1 1538 10 1/0 0,255,255 +rs113315760 21 46932129 G A - COL18A1 2195 Collagen type XVIII alpha 1 chain ENST00000359759.8 1 6586 5265 ENSP00000352798 P39060 substitution synonymous exon GRCh37 46932129 46932129 Chr21(GRCh37):g.46932129G>A 5082 5082 ENST00000359759.8:c.5082G>A p.Ser1694= p.Ser1694Ser 41 120328 28 3' 79.2987 7.66187 0.659875 5.26812 79.2987 7.66187 0.659875 IV.33 0 New Acceptor Site 46932131 0.11252 0.008632 65.3321 Collagenase NC10/endostatin C-type lectin fold rs113315760 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.001500 0.000000 0.000000 0.003000 0.000000 0.001005 0.000515 0.000759 0.000999 0.000107 0.000000 0.001733 0.000243 0.000637 0.001733 271 12 26 10 2 0 211 6 4 269632 23322 34266 10006 18694 30610 121744 24708 6282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 271 12 26 10 2 0 211 6 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8385 4160 12545 11 2 13 0.00131015 0.000480538 0.0010352 0.00131015 0.000480538 0.0010352 21 transition G A G>A 0.024 -3.023 S Ser TCG 0.056 S Ser TCA 0.148 1694 255 PASS . . . . . 0.0015 0.001 . . 0.003 . . . . . . 0.48815167 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 211.0 . . . 0.0005 0.001 0.0013 0.0005 0.001 0.0013 . -1.5389 . . . . . . . . 1.114e-03 . . . 0.0009 0.0011 0.0005 0 0 0.0019 0.0017 6.672e-05 0.0010 0.0013 0.0005 0 0.0005 0.0021 0 6.702e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.23 0.29 182 ENSG00000182871 COL18A1 COL18A1 . . . . . . 58 0.000892637 64976 54 0.00090021 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs113315760 . . . . . . . . . . . . 1.568 5.75E-4 ENST00000423214 4.VII -8.15 . . . . . . 0.001035 . . . . . 0.0005 0.0010 0.0007 0.0008 0.0001 0.0003 0.0018 0.0008 0 0.0005 0.0010 0.0012 0.0066 0 0 0.0015 0 . . . . -2.650 -2.650000 . . . . . 1.0E-255 . . . . . . . . . -2.650 . 0.0013 . . rs113315760 rs113315760 1 1538 10 1/0 0,226,243 +rs113315760 21 46932129 G A - SLC19A1 10937 Solute carrier family 19 member 1 NM_001352512.1 -1 4968 1776 NP_001339441.1 P41440 substitution downstream GRCh37 46932129 46932129 Chr21(GRCh37):g.46932129G>A *3443 *3443 NM_001352512.1:c.*3443C>T p.? p.? 6 600424 3926 3' 84.3594 X.05 0.933113 9.52816 84.3594 X.05 0.933113 9.52816 0 rs113315760 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.001500 0.000000 0.000000 0.003000 0.000000 0.001005 0.000515 0.000759 0.000999 0.000107 0.000000 0.001733 0.000243 0.000637 0.001733 271 12 26 10 2 0 211 6 4 269632 23322 34266 10006 18694 30610 121744 24708 6282 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 271 12 26 10 2 0 211 6 4 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8385 4160 12545 11 2 13 0.00131015 0.000480538 0.0010352 0.00131015 0.000480538 0.0010352 21 transition C T C>T 0.024 -3.023 255 PASS . . . . . 0.0015 0.001 . . 0.003 . . . . . . 0.48815167 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 211.0 . . . 0.0005 0.001 0.0013 0.0005 0.001 0.0013 . -1.5389 . . . . . . . . 1.114e-03 . . . 0.0009 0.0011 0.0005 0 0 0.0019 0.0017 6.672e-05 0.0010 0.0013 0.0005 0 0.0005 0.0021 0 6.702e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.23 0.29 182 ENSG00000182871 COL18A1 COL18A1 . . . . . . 58 0.000892637 64976 54 0.00090021 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . rs113315760 . . . . . . . . . . . . 1.568 5.75E-4 ENST00000423214 4.VII -8.15 . . . . . . 0.001035 . . . . . 0.0005 0.0010 0.0007 0.0008 0.0001 0.0003 0.0018 0.0008 0 0.0005 0.0010 0.0012 0.0066 0 0 0.0015 0 . . . . -2.650 -2.650000 . . . . . 1.0E-255 . . . . . . . . . -2.650 . 0.0013 . . rs113315760 rs113315760 1 1538 10 1/0 0,226,243 +rs151158105 21 47412687 G A - COL6A1 2211 Collagen, type VI, alpha 1 NM_001848.2 1 4225 3087 NP_001839.2 P12109 substitution missense exon GRCh37 47412687 47412687 Chr21(GRCh37):g.47412687G>A 1298 1298 NM_001848.2:c.1298G>A p.Arg433Gln p.Arg433Gln 19 120220 26 3' 85.53 8.92937 0.927447 XII.53 85.53 8.92937 0.927447 12.491 0 Collagen triple helix repeat rs151158105 yes no Frequency/1000G 2 G likely_benign 0.000000 0 0.000799 0.000000 0.000000 0.000000 0.003000 0.001400 0.002457 0.000138 0.000309 0.000000 0.000507 0.000000 0.003985 0.005293 0.003501 0.005293 622 3 10 0 9 0 458 121 21 253160 21742 32372 9524 17758 27964 114940 22862 5998 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000017 0.000000 0.000000 1 0 0 0 0 0 1 0 0 620 3 10 0 9 0 456 121 21 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8572 4389 12961 20 1 21 0.00232775 0.00022779 0.00161762 0.00232775 0.00022779 0.00161762 26 RCV000403757.2|RCV000280526.1 germline|germline|germline clinical testing|clinical testing|clinical testing Conflicting interpretations of pathogenicity|Likely benign 1|1 not specified|Collagen VI-related myopathy COSM3668531 Liver 0.000844 2371 transition G A G>A 0.787 0.286 R Arg CGG 0.207 Q Gln CAG 0.744 433 11 8 Cow 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 106.82 0.00 Tolerated 0.49 III.72 good 9.536E-1 0.2776 255 PASS . 0.0009 . . 0.0026 . 0.0008 0.0014 . 0.003 . ENSG00000142156:ENST00000361866:exon19:c.G1298A:p.R433Q COL6A1:uc002zhu.1:exon19:c.G1298A:p.R433Q COL6A1:NM_001848:exon19:c.G1298A:p.R433Q . . 0.375 . . germline 27 . . 1.2.2016 0 0 0 0 1 0 0 0 1 1 0 0 . . . . . . 0.299 . Likely//\@benign//\%//\@Benign Likely_benign|Benign RCV000280526.1|RCV000403757.1 Collagen_VI-related_myopathy|not_specified MedGen|MedGen CN117976|CN169374 1 0.236 . . 72.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R433Q|COL6A1|mRNA|CODING|NM_001848|NM_001848.ex.19) 0.0002 0.0016 0.0023 0.0002 0.0016 0.0023 . -1.0993 -0.993 -1.099 c . . . . . 2.778e-03 . . . 0 0.0024 0.0003 0 0.0175 0.0047 0 0 0 0.0060 0 0.0008 0.0210 0.0118 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.926 . . exonic exonic exonic . . 0.197 0.0008 . . . 0.15 0.42 182 ENSG00000142156 COL6A1 COL6A1 . . . 1.000 0.480 . 168 0.00258557 64976 164 0.00273397 59986 Benign . 0 . 0.194 . . . . . . . . . 37 . 0.758 . . 0.616 . . . 0.152 0.266 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.045 . . 0 0 0 0 0 0 . 0.174 . . 0.112 . . . . . . 0 0.093 . . . . . 0.132 . 0.199 . HET 0.35 rs151158105 0.011 0.007 . . . . ID\x3dCOSM3668531\x3bOCCURENCE\x3d1(liver) 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 4.932 2.69E-4 . 4.0 I.13 . 0.710000 P12109 . . . 0.001618 . 0.060 . . . 7.671e-05 0.0025 0.0003 0 0.0004 0.0051 0.0041 0.0036 0 0.0002 0.0025 0.0024 0 0.0012 0.0066 0.0029 0.0031 . . 0.567 . 0.312 0.312000 . . 0.710000 . . 1.0E-255 0.001 0.137 . 0.347 0.851 . 0.084 . 0.200 0.312 -0.045 0.011 . . rs151158105 rs151158105 1 1538 10 1/0 0,255,255 +rs149481630 21 47581866 G A - SPATC1L 1298 Spermatogenesis and centriole associated 1-like NM_001142854.1 -1 2316 1023 NP_001136326.1 Q9H0A9 substitution synonymous exon GRCh37 47581866 47581866 Chr21(GRCh37):g.47581866G>A 660 660 NM_001142854.1:c.660C>T p.Gly220= p.Gly220Gly 4 612412 -37 5' 79.0738 9.09964 0.855211 XII.78 79.0738 9.09964 0.855211 XI.76 0 rs149481630 yes no Frequency/1000G 2 G 0.000000 0 0.004193 0.000000 0.003100 0.000000 0.009900 0.011500 0.007962 0.001773 0.004682 0.007657 0.000054 0.008396 0.011892 0.004037 0.009097 0.011892 2115 41 160 76 1 256 1433 91 57 265632 23124 34172 9926 18608 30490 120504 22542 6266 0.000136 0.000000 0.000000 0.000201 0.000000 0.000262 0.000199 0.000089 0.000000 18 0 0 1 0 4 12 1 0 2079 41 160 74 1 248 1409 89 57 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8481 4376 12857 105 12 117 0.0122292 0.00273473 0.00901804 0.0122292 0.00273473 0.00901804 29 COSM6026687 Large intestine 0.000896 2231 transition C T C>T 0.961 -0.360 G Gly GGC 0.342 G Gly GGT 0.162 220 255 PASS . 0.0037 0.01 . 0.01 . 0.0042 0.011 . 0.0099 0.0031 . . . . . 0.5 . . @ 55 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 110.0 . . . 0.0027 0.009 0.012 0.0027 0.009 0.012 . 0.9260 . . . . . . . . 8.290e-03 . . . 0.0018 0.0099 0.0043 0.0002 0.0040 0.0153 0.0165 0.0096 0.0019 0.0093 0.0039 0.0001 0.0068 0.0130 0.0147 0.0096 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0042 . . . 0.28 0.22 182 ENSG00000160284 SPATC1L SPATC1L . . . . . . 669 0.0102961 64976 647 0.0107858 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149481630 . . . . . . . . . . . . . . . . . . . . . . . 0.009018 . . . . . 0.0018 0.0081 0.0047 0.0076 5.887e-05 0.0040 0.0119 0.0085 0.0084 0.0017 0.0071 0.0048 0.0099 0 0.0040 0.0115 0.0123 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.012 . . rs149481630 rs149481630 1 1538 10 1/0 0,255,255 +rs545047663 21 47856838 A G - PCNT 16068 Pericentrin NM_006031.5 1 10560 10011 NP_006022.3 O95613 substitution intron GRCh37 47856838 47856838 Chr21(GRCh37):g.47856838A>G 8997-54 8997-54 NM_006031.5:c.8997-54A>G p.? p.? 40 39 605925 -54 3' 98.7596 9.23087 0.94954 7.47611 98.7596 9.23087 0.94954 7.27572 0 rs545047663 yes no Frequency/1000G 2 A 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30964 8728 838 302 1622 0 14998 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition A G A>G 0.000 -1.086 255 PASS . . . . . . 0.0002 . . 0.001 . . . . . . 0.53333336 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.1377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000160299 PCNT PCNT . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs545047663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 3.23e-05 0 0 0 0 6.668e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr21:48110856 G/A) 21 48110856 G A No Alamut gene - other known genes: RPL23AP4 RPL23AP4 +rs111341656 (chr21:48110918 A/G) 21 48110918 A G No Alamut gene - other known genes: RPL23AP4 RPL23AP4 +. (chr21:48110940 T/C) 21 48110940 T C No Alamut gene - other known genes: RPL23AP4 RPL23AP4 +rs8140563 (chr22:16100514 C/G) 22 16100514 C G Not on a known gene +rs2716311 22 16158763 A G - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158763 16158763 Chr22(GRCh37):g.16158763A>G 264+1421 264+1421 NR_133911.1:n.264+1421A>G p.? p.? 1 1 1421 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 rs2716311 no no 0 A 0.000000 0 0.002374 0.020505 0.000000 0.000000 0.000000 0.000000 0.000474 0.000000 0.000000 0.020505 14 13 0 0 0 0 1 0 0 5896 634 314 50 104 0 2110 2398 286 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 13 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition A G A>G 0.000 -1.732 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.8172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.1 182 . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2716311 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0205 0.0024 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . 0.011 rs2716311 rs2716311 rs2716311 rs2716311 1 1538 10 1/0 0,255,255 +rs2716311 22 16158763 A G - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158763 16158763 Chr22(GRCh37):g.16158763A>G 814+3634 814+3634 NR_122113.1:n.814+3634T>C p.? p.? 7 7 3634 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 rs2716311 no no 0 A 0.000000 0 0.002374 0.020505 0.000000 0.000000 0.000000 0.000000 0.000474 0.000000 0.000000 0.020505 14 13 0 0 0 0 1 0 0 5896 634 314 50 104 0 2110 2398 286 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 14 13 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes transition T C T>C 0.000 -1.732 236 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . -0.8172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.1 182 . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2716311 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0205 0.0024 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . 0.011 rs2716311 rs2716311 rs2716311 rs2716311 1 1538 10 1/0 0,255,255 +. 22 16158778 C T - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158778 16158778 Chr22(GRCh37):g.16158778C>T 264+1436 264+1436 NR_133911.1:n.264+1436C>T p.? p.? 1 1 1436 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 0.002515 0.018600 0.000000 0.000000 0.000000 0.000000 0.000354 0.000000 0.000000 0.018600 18 17 0 0 0 0 1 0 0 7156 914 354 78 170 0 2828 2486 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 17 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.012 0.125 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.3783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0186 0.0025 0 0 0 0 0.0004 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158778 C T - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158778 16158778 Chr22(GRCh37):g.16158778C>T 814+3619 814+3619 NR_122113.1:n.814+3619G>A p.? p.? 7 7 3619 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 Cryptic Donor Strongly Activated 16158777 6.64637 0.195381 81.0413 8.68007 0.851586 90.0021 0.002515 0.018600 0.000000 0.000000 0.000000 0.000000 0.000354 0.000000 0.000000 0.018600 18 17 0 0 0 0 1 0 0 7156 914 354 78 170 0 2828 2486 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 18 17 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition G A G>A 0.012 0.125 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 40.0 . . . . . . . . . . -0.3783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0186 0.0025 0 0 0 0 0.0004 0 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158787 C A - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158787 16158787 Chr22(GRCh37):g.16158787C>A 264+1445 264+1445 NR_133911.1:n.264+1445C>A p.? p.? 1 1 1445 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 0.002995 0.019737 0.000000 0.000000 0.000000 0.000000 0.000627 0.000000 0.000000 0.019737 23 21 0 0 0 0 2 0 0 7680 1064 382 78 210 0 3190 2412 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 21 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transversion C A C>A 0.004 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0197 0.0030 0 0 0 0 0.0006 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158787 C A - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158787 16158787 Chr22(GRCh37):g.16158787C>A 814+3610 814+3610 NR_122113.1:n.814+3610G>T p.? p.? 7 7 3610 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 Cryptic Donor Strongly Activated 16158793 0.003013 58.5628 0.676173 0.004479 63.5815 0.002995 0.019737 0.000000 0.000000 0.000000 0.000000 0.000627 0.000000 0.000000 0.019737 23 21 0 0 0 0 2 0 0 7680 1064 382 78 210 0 3190 2412 344 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 21 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 45 Genomes transversion G T G>T 0.004 0.125 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0197 0.0030 0 0 0 0 0.0006 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158794 C G - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158794 16158794 Chr22(GRCh37):g.16158794C>G 264+1452 264+1452 NR_133911.1:n.264+1452C>G p.? p.? 1 1 1452 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 New Acceptor Site 16158795 7.99361 0.236414 72.472 0.002648 0.015464 0.000000 0.000000 0.000000 0.000000 0.000880 0.000000 0.000000 0.015464 21 18 0 0 0 0 3 0 0 7930 1164 388 74 226 0 3410 2336 332 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 18 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion C G C>G 0.000 0.205 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.3809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0155 0.0026 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 16158794 C G - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158794 16158794 Chr22(GRCh37):g.16158794C>G 814+3603 814+3603 NR_122113.1:n.814+3603G>C p.? p.? 7 7 3603 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 0.002648 0.015464 0.000000 0.000000 0.000000 0.000000 0.000880 0.000000 0.000000 0.015464 21 18 0 0 0 0 3 0 0 7930 1164 388 74 226 0 3410 2336 332 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 18 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transversion G C G>C 0.000 0.205 202 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . -0.3809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . . AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0155 0.0026 0 0 0 0 0.0009 0 . . . . . . . . . . . 1.0E-202 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2843307 22 16158839 T A - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16158839 16158839 Chr22(GRCh37):g.16158839T>A 264+1497 264+1497 NR_133911.1:n.264+1497T>A p.? p.? 1 1 1497 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 New Acceptor Site 16158841 I.59 0.006035 77.0653 rs2843307 no no 0 T 0.000000 0 0.003665 0.018868 0.000000 0.000000 0.000000 0.000000 0.000618 0.000000 0.000000 0.018868 35 32 0 0 0 0 3 0 0 9550 1696 430 84 464 0 4856 1712 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 32 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transversion T A T>A 0.012 -1.732 199 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.8277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.27 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2843307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0189 0.0037 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs2843307 rs2843307 rs2843307 rs2843307 1 1538 10 1/0 0,251,255 +rs2843307 22 16158839 T A - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16158839 16158839 Chr22(GRCh37):g.16158839T>A 814+3558 814+3558 NR_122113.1:n.814+3558A>T p.? p.? 7 7 3558 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 rs2843307 no no 0 T 0.000000 0 0.003665 0.018868 0.000000 0.000000 0.000000 0.000000 0.000618 0.000000 0.000000 0.018868 35 32 0 0 0 0 3 0 0 9550 1696 430 84 464 0 4856 1712 308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 32 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 37 Genomes transversion A T A>T 0.012 -1.732 199 PASS . . . . . . . . . . . . . . . . 0.15873016 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . -0.8277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.5 0.27 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2843307 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0189 0.0037 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . rs2843307 rs2843307 rs2843307 rs2843307 1 1538 10 1/0 0,251,255 +rs1061073 22 16159031 C G - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16159031 16159031 Chr22(GRCh37):g.16159031C>G 264+1689 264+1689 NR_133911.1:n.264+1689C>G p.? p.? 1 1 1689 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 Cryptic Donor Strongly Activated 16159028 3.99481 0.279751 78.1021 7.93332 0.979402 83.6222 rs1061073 no no 0 C 0.000000 0 0.000033 0.000120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000120 1 1 0 0 0 0 0 0 0 30518 8308 838 302 1614 0 14988 3492 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion C G C>G 0.008 0.205 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.3650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.18 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs1061073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.277e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs1061073 rs1061073 rs1061073 rs1061073 1 1538 10 1.I 0,0,0 +rs1061073 22 16159031 C G - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16159031 16159031 Chr22(GRCh37):g.16159031C>G 814+3366 814+3366 NR_122113.1:n.814+3366G>C p.? p.? 7 7 3366 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 rs1061073 no no 0 C 0.000000 0 0.000033 0.000120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000120 1 1 0 0 0 0 0 0 0 30518 8308 838 302 1614 0 14988 3492 976 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 38 Genomes transversion G C G>C 0.008 0.205 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.3650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.18 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs1061073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.277e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs1061073 rs1061073 rs1061073 rs1061073 1 1538 10 1.I 0,0,0 +rs2019636 22 16159046 T C - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16159046 16159046 Chr22(GRCh37):g.16159046T>C 264+1704 264+1704 NR_133911.1:n.264+1704T>C p.? p.? 1 1 1704 5' 95.6376 X.36 0.993952 15.5747 95.6376 X.36 0.993952 15.5747 0 rs2019636 yes no Frequency 1 C 0.000000 0 transition T C T>C 0.008 0.125 235 PASS . . . . . . . . . . . . . . . . 0.26190478 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.28 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2019636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs2019636 rs2019636 rs2019636 rs199975307 1 1538 10 1/0 0,255,255 +rs2019636 22 16159046 T C - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16159046 16159046 Chr22(GRCh37):g.16159046T>C 814+3351 814+3351 NR_122113.1:n.814+3351A>G p.? p.? 7 7 3351 5' 81.522 7.45706 0.961358 4.04571 81.522 7.45706 0.961358 4.04571 0 rs2019636 yes no Frequency 1 C 0.000000 0 transition A G A>G 0.008 0.125 235 PASS . . . . . . . . . . . . . . . . 0.26190478 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 42.0 . . . . . . . . . . -0.4511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.54 0.28 182 ENSG00000206195 AK022914 DUXAP8 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2019636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . rs2019636 rs2019636 rs2019636 rs199975307 1 1538 10 1/0 0,255,255 +. 22 16171481 G A - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution intron GRCh37 16171481 16171481 Chr22(GRCh37):g.16171481G>A 353-471 353-471 NR_133911.1:n.353-471G>A p.? p.? 3 2 -471 3' 86.6928 10.1238 0.952536 3.60879 86.6928 10.1238 0.952536 3.60879 0 Cryptic Acceptor Weakly Activated 16171500 0.012982 70.8971 0.833783 0.013435 70.8971 0.004396 0.002473 0.003378 0.000000 0.000000 0.000000 0.005671 0.004522 0.008427 0.005671 46 6 1 0 0 0 29 7 3 10464 2426 296 118 606 0 5114 1548 356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 6 1 0 0 0 29 7 3 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition G A G>A 1.000 2.546 199 PASS . . . . . . . . . . . . . . . . 0.15714286 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.1858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000232775 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0044 0.0034 0 0 0.0045 0.0057 0.0084 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 22 16171481 G A - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16171481 16171481 Chr22(GRCh37):g.16171481G>A 724-8994 724-8994 NR_122113.1:n.724-8994C>T p.? p.? 7 6 -8994 3' 95.4391 9.54342 0.96426 6.22016 95.4391 9.54342 0.96426 6.22016 0 Cryptic Acceptor Strongly Activated 16171476 0.533887 0.002235 70.3219 1.53983 0.007596 73.8675 0.004396 0.002473 0.003378 0.000000 0.000000 0.000000 0.005671 0.004522 0.008427 0.005671 46 6 1 0 0 0 29 7 3 10464 2426 296 118 606 0 5114 1548 356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 6 1 0 0 0 29 7 3 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition C T C>T 1.000 2.546 199 PASS . . . . . . . . . . . . . . . . 0.15714286 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . . . . . . . . . 0.1858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000232775 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0044 0.0034 0 0 0.0045 0.0057 0.0084 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +rs12484007 22 16172112 G A - BMS1P22 51603 BMS1, ribosome biogenesis factor pseudogene 22 NR_133911.1 1 666 0 substitution exon GRCh37 16172112 16172112 Chr22(GRCh37):g.16172112G>A 513 513 NR_133911.1:n.513G>A 3 161 3' 86.6928 10.1238 0.952536 3.60879 86.6928 10.1238 0.952536 3.60879 0 rs12484007 yes no Frequency 1 G 0.000000 0 0.000907 0.000495 0.000000 0.000000 0.000000 0.000000 0.000441 0.003425 0.003344 0.003425 16 2 0 0 0 0 4 8 2 17642 4040 558 180 866 0 9064 2336 598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 0 0 0 0 4 8 2 0 0 0 0 0 0 0 0 0 RF 26 Genomes transition G A G>A 1.000 0.609 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . -0.0984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.23 182 ENSG00000232775 LINC00516 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs12484007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0009 0 0 0 0.0034 0.0004 0.0033 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs12484007 rs12484007 rs12484007 rs12484007 1 1538 10 1/0 0,255,255 +rs12484007 22 16172112 G A - DUXAP8 32187 Double homeobox A pseudogene 8 NR_122113.1 -1 2107 0 substitution intron GRCh37 16172112 16172112 Chr22(GRCh37):g.16172112G>A 724-9625 724-9625 NR_122113.1:n.724-9625C>T p.? p.? 7 6 -9625 3' 95.4391 9.54342 0.96426 6.22016 95.4391 9.54342 0.96426 6.22016 0 rs12484007 yes no Frequency 1 G 0.000000 0 0.000907 0.000495 0.000000 0.000000 0.000000 0.000000 0.000441 0.003425 0.003344 0.003425 16 2 0 0 0 0 4 8 2 17642 4040 558 180 866 0 9064 2336 598 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 2 0 0 0 0 4 8 2 0 0 0 0 0 0 0 0 0 RF 26 Genomes transition C T C>T 1.000 0.609 182 PASS . . . . . . . . . . . . . . . . 0.11904762 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 42.0 . . . . . . . . . . -0.0984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.61 0.23 182 ENSG00000232775 LINC00516 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . rs12484007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0009 0 0 0 0.0034 0.0004 0.0033 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs12484007 rs12484007 rs12484007 rs12484007 1 1538 10 1/0 0,255,255 +. 22 16262933 T G - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution intron GRCh37 16262933 16262933 Chr22(GRCh37):g.16262933T>G 1520+3996 1520+3996 NM_001136213.1:c.1520+3996A>C p.? p.? 9 9 608913 3996 5' 100 X.83 0.999028 6.73022 100 X.83 0.999028 6.73022 0 transversion A C A>C 0.000 -0.117 192 PASS . . . . . . . . . . . . . . . . 0.13953489 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 86.0 . . INTRON(MODIFIER||||POTEH|mRNA|CODING|NM_001136213|) . . . . . . . -0.3532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198062 POTEH POTEH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +. 22 16282463 T G - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution intron GRCh37 16282463 16282463 Chr22(GRCh37):g.16282463T>G 747+15 747+15 NM_001136213.1:c.747+15A>C p.? p.? 2 2 608913 15 5' 83.7411 9.54919 0.991443 2.63338 83.7411 9.54919 0.991443 2.77652 0 0.009298 0.000000 0.006073 0.000000 0.000000 0.020000 0.000000 0.000000 0.000000 0.020000 9 0 3 0 0 6 0 0 0 968 8 494 14 16 300 80 0 56 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 0 3 0 0 6 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -0.360 226 PASS . . . . . . . . . . . . . . . . 0.22966507 . . @ 48 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 209.0 . . . . . . . . . . -0.3121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000198062 POTEH POTEH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0093 0.0061 0 0 . 0 0 0.02 . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,207,255 +rs4561744 22 16282664 C T - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution intron GRCh37 16282664 16282664 Chr22(GRCh37):g.16282664C>T 633-72 633-72 NM_001136213.1:c.633-72G>A p.? p.? 2 1 608913 -72 3' 78.903 7.63058 0.895947 5.96953 78.903 7.63058 0.895947 6.11351 0 rs4561744 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition G A G>A 0.000 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.54471546 . . @ 67 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . INTRON(MODIFIER||||POTEH|mRNA|CODING|NM_001136213|) . . . . . . . -0.6042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.32 182 ENSG00000198062 POTEH POTEH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4561744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs4561744 rs4561744 rs4561744 rs4561744 1 1538 10 1/0 0,255,255 +rs202187764 22 16287562 G C - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution missense exon GRCh37 16287562 16287562 Chr22(GRCh37):g.16287562G>C 324 324 NM_001136213.1:c.324C>G p.Cys108Trp p.Cys108Trp 1 608913 -309 5' 78.4708 8.54931 0.957079 8.73542 78.4708 8.54931 0.957079 8.73542 0 rs202187764 yes no Frequency 1 C 0.000000 0 0.001595 0.000631 0.002242 0.000463 0.002931 0.002719 0.000911 0.002797 0.002303 0.002931 363 12 61 4 47 70 94 63 12 227576 19006 27204 8634 16036 25746 103218 22522 5210 0.000228 0.000000 0.000147 0.000000 0.000125 0.000000 0.000097 0.001510 0.000384 26 0 2 0 1 0 5 17 1 311 12 57 4 45 70 84 29 10 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.024 0.286 C Cys TGC 0.552 W Trp TGG 1.000 108 -5 -2 -5 II.75 0.13 5.V 5.IV 55 170 215 198 PASS . . . . . . . . . . . . POTEH:uc010gqp.2:exon1:c.C324G:p.C108W POTEH:NM_001136213:exon1:c.C324G:p.C108W . . 0.15227273 . . @ 67 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 440.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgC/tgG|C108W|POTEH|mRNA|CODING|NM_001136213|NM_001136213.ex.1) . . . . . . . -0.5941 . . . . . . . . 2.751e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.31 0.07 182 ENSG00000198062 POTEH POTEH . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.2 rs202187764 . . . . . . . . . . . . . 0.00115 . . . . 0.180000 Q6S545 . . . . . . . . . 0.0008 0.0016 0.0022 0.0005 0.0032 0.0018 0.0010 0.0019 0.0027 0.0003 0.0019 0.0068 0 0 0.0112 0.0004 0.0051 . . . . 0.269 0.269000 . . 0.180000 . . 1.0E-198 . . . . . . . . . 0.269 . . . . rs202187764 rs202187764 1 1538 10 1/0 0,167,255 +rs200785274 22 16287622 A G - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution synonymous exon GRCh37 16287622 16287622 Chr22(GRCh37):g.16287622A>G 264 264 NM_001136213.1:c.264T>C p.Asp88= p.Asp88Asp 1 608913 -369 5' 78.4708 8.54931 0.957079 8.73542 78.4708 8.54931 0.957079 8.73542 0 rs200785274 yes no Frequency/1000G 2 A 0.000000 0 0.001597 0.002300 0.003100 0.001000 0.001000 0.000000 0.000038 0.000000 0.000034 0.000000 0.000000 0.000000 0.000048 0.000132 0.000000 0.000132 9 0 1 0 0 0 5 3 0 235060 18274 29522 8590 18244 28676 103648 22696 5410 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 7 0 1 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.004 -1.328 D Asp GAT 0.461 D Asp GAC 0.539 88 183 PASS . . . . . 0.0023 0.0016 . 0.001 0.001 0.0031 . POTEH:uc010gqp.2:exon1:c.T264C:p.D88D POTEH:NM_001136213:exon1:c.T264C:p.D88D . . 0.13103448 . . @ 57 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 435.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D88|POTEH|mRNA|CODING|NM_001136213|NM_001136213.ex.1) . . . . . . . -0.7446 -0.279 -0.745 n . . . . . 1.840e-04 . . . 0.0001 0.0001 0.0002 0 0 0.0002 0 6.638e-05 0 0.0001 0.0002 0 0 0.0002 0 6.68e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.3 0.06 182 ENSG00000198062 POTEH POTEH . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200785274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.773e-05 3.44e-05 0 0 0 5.267e-05 0 0 0 0.0002 0 0 0 0.0014 0 0 . . 0.133 . . . . . . . . 1.0E-183 0.002 0.151 . 0.043 . . 0.033 . 0.023 . . . . . rs200785274 rs200785274 1 1538 10 1/0 0,166,255 +rs201321237 22 16287661 G A - POTEH 133 POTE ankyrin domain family, member H NM_001136213.1 -1 2037 1638 NP_001129685.1 Q6S545 substitution synonymous exon GRCh37 16287661 16287661 Chr22(GRCh37):g.16287661G>A 225 225 NM_001136213.1:c.225C>T p.Ser75= p.Ser75Ser 1 608913 -408 5' 78.4708 8.54931 0.957079 8.73542 78.4708 8.54931 0.957079 8.73542 0 rs201321237 yes no Frequency 1 G 0.000000 0 0.001028 0.000303 0.000332 0.000000 0.002050 0.000952 0.000895 0.003057 0.000957 0.003057 228 6 9 0 27 21 93 67 5 221870 19796 27128 8690 13170 22066 103874 21920 5226 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000019 0.000000 0.000000 1 0 0 0 0 0 1 0 0 226 6 9 0 27 21 91 67 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 7707 4157 11864 39 9 48 0.00503486 0.00216035 0.00402955 0.00503486 0.00216035 0.00402955 92 transition C T C>T 0.075 0.125 S Ser AGC 0.243 S Ser AGT 0.149 75 169 PASS . . . . . . . . . . . . POTEH:uc010gqp.2:exon1:c.C225T:p.S75S POTEH:NM_001136213:exon1:c.C225T:p.S75S . . 0.10051993 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 577.0 . . SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S75|POTEH|mRNA|CODING|NM_001136213|NM_001136213.ex.1) 0.0022 0.004 0.005 0.0022 0.004 0.005 . -0.4877 . . . . . . . . 8.383e-05 . . . 0.0001 0.0001 0 0.0010 0 8.947e-05 0.0017 8.472e-05 0 4.819e-05 0 0.0005 0 0 0 8.512e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.37 0.2 182 ENSG00000198062 POTEH POTEH . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201321237 . . . . . . . . . . . . . . . . . . . . . . . 0.004030 . . . . . 0.0003 0.0009 0.0002 0 0.0012 0.0031 0.0007 0.0011 0.0010 0.0003 0.0027 0.0079 0 0.0124 0.0027 0.0033 0 . . . . . . . . . . . 1.0E-169 . . . . . . . . . . . 0.005 . . rs201321237 rs201321237 1 1538 10 1/0 0,151,255 +. (chr22:16353291 A/G) 22 16353291 A G No Alamut gene - other known genes: NF1P6 NF1P6 +rs879177664 (chr22:16353409 C/T) 22 16353409 C T No Alamut gene - other known genes: NF1P6 NF1P6 +rs200330272 22 16449003 T C - OR11H1 15404 Olfactory receptor, family 11, subfamily H, member 1 NM_001005239.1 -1 981 981 NP_001005239.1 Q8NG94 substitution missense exon GRCh37 16449003 16449003 Chr22(GRCh37):g.16449003T>C 802 802 NM_001005239.1:c.802A>G p.Ser268Gly p.Ser268Gly 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily rs200330272 yes no Frequency 1 T 0.000000 0 0.001193 0.001521 0.000338 0.001748 0.000989 0.000000 0.001783 0.000672 0.000399 0.001783 117 21 4 3 9 0 70 9 1 98102 13808 11848 1716 9100 6456 39270 13396 2508 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 117 21 4 3 9 0 70 9 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4593675|COSM4593675|COSM4593675|COSM4593675 Upper aerodigestive tract|Thyroid|Pancreas|Haematopoietic and lymphoid tissue 0.004019|0.001339|0.000576|0.000283 1244|747|1736|3530 transition A G A>G 0.354 0.286 S Ser AGC 0.243 G Gly GGC 0.342 268 10 1 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 95.09 0.00 Tolerated 1 IV.32 good 9.994E-1 0.0171 242 PASS . . . . . . . . . . . ENSG00000130538:ENST00000252835:exon1:c.A802G:p.S268G OR11H1:uc011agd.2:exon1:c.A802G:p.S268G OR11H1:NM_001005239:exon1:c.A802G:p.S268G . . 0.2793296 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 179.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S268G|OR11H1|mRNA|CODING|NM_001005239|NM_001005239.ex.1) . . . . . . . -1.7446 . . . . . . . . 4.280e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.35 0.34 182 ENSG00000130538 OR11H1 OR11H1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs200330272 . . . . . . . . . . . . V.71 0.01108 ENST00000252835 I.88 I.88 . 1.000000 Q8NG94 . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0027 0.0047 0.0056 0.0153 0.0077 0.0031 0.0062 0.0014 . . . . 0.072 0.072000 . . 1.000000 . . 1.0E-242 . . . . . . . . . 0.072 . . rs2259909 rs2259909 rs2259909 rs200330272 1 1538 10 1/0 0,218,255 +rs774847876 22 16449209 C A - OR11H1 15404 Olfactory receptor, family 11, subfamily H, member 1 NM_001005239.1 -1 981 981 NP_001005239.1 Q8NG94 substitution missense exon GRCh37 16449209 16449209 Chr22(GRCh37):g.16449209C>A 596 596 NM_001005239.1:c.596G>T p.Arg199Leu p.Arg199Leu 1 GPCR, rhodopsin-like, 7TM GPCR, rhodopsin-like superfamily Olfactory receptor rs774847876 yes no Frequency 1 C 0.000000 0 0.000220 0.000914 0.000155 0.000000 0.000106 0.000000 0.000166 0.000000 0.000000 0.000914 21 12 2 0 1 0 6 0 0 95614 13122 12914 1902 9462 7082 36228 12300 2604 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 12 2 0 1 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM5424159 Haematopoietic and lymphoid tissue 0.000567 3530 transversion G T G>T 0.016 1.497 R Arg CGA 0.110 L Leu CTA 0.070 199 10 1 -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 101.88 0.00 Tolerated 1 IV.32 good 1,00E+00 0.001817 198 PASS . . . . . . . . . . . ENSG00000130538:ENST00000252835:exon1:c.G596T:p.R199L OR11H1:uc011agd.2:exon1:c.G596T:p.R199L OR11H1:NM_001005239:exon1:c.G596T:p.R199L . . 0.15441176 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cTa|R199L|OR11H1|mRNA|CODING|NM_001005239|NM_001005239.ex.1) . . . . . . . -2.1607 . . . . . . . . 3.270e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.4 0.23 182 ENSG00000130538 OR11H1 OR11H1 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 1 rs774847876 . . . . . . . . . . . . 6.496 . ENST00000252835 I.88 I.88 . 1.000000 Q8NG94 . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0016 0.0008 0.0029 0 0.0007 0 0.0005 0 . . . . -0.029 -0.029000 . . 1.000000 . . 1.0E-198 . . . . . . . . . -0.029 . . rs2212201 rs2212201 rs2212201 rs2212201 1 1538 10 1/0 0,218,255 +. (chr22:16914094 A/G) 22 16914094 A G Not on a known gene +. (chr22:16914121 C/A) 22 16914121 C A Not on a known gene +rs4010323 (chr22:16967983 T/C) 22 16967983 T C No Alamut gene - other known genes: ACTR3BP6 ACTR3BP6 +rs4010329 (chr22:16968463 C/T) 22 16968463 C T No Alamut gene - other known genes: ACTR3BP6 ACTR3BP6 +. 22 17062143 T C - KCNMB3P1 6288 Potassium calcium-activated channel subfamily M regulatory beta subunit 3 pseudogene 1 ENST00000472972.1 -1 307 0 substitution exon GRCh37 17062143 17062143 Chr22(GRCh37):g.17062143T>C 131 131 ENST00000472972.1:n.131A>G 2 35 3' 75.6771 7.18076 0.669724 6.81817 75.6771 7.18076 0.669724 6.81738 0 transition A G A>G 0.913 1.416 182 PASS . . . . . . . . . . . . . . . . 0.118421055 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 76.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.8647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.65 0.49 182 ENSG00000239435 . . . dist\x3d32500\x3bdist\x3d9505 dist\x3d612339\x3bdist\x3d9505 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.XI . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . rs55710741 rs55710741 rs55710741 rs55710741 1 1538 10 1/0 0,240,255 +rs2845363 22 17175554 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17175554 17175554 Chr22(GRCh37):g.17175554G>A 2434 2434 ENST00000457911.1:n.2434C>T 9 58 3' 87.4125 9.54795 0.814574 9.48927 87.4125 9.54795 0.814574 9.30102 0 rs2845363 no no 0 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15584 4776 382 116 666 0 7134 2020 490 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 27 Genomes transition C T C>T 0.972 1.981 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 124 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 124.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . 0.7 0.25 182 ENSG00000241717 TPTEP1 . . . dist\x3d19124\x3bdist\x3d88752 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . rs2845363 0.576 0.500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.58 rs2845363 rs2845363 rs2845363 rs114194072 1 1538 255 1.I 0,0,255 +rs2845370 22 17178204 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17178204 17178204 Chr22(GRCh37):g.17178204G>A 1582 1582 ENST00000457911.1:n.1582C>T 6 -537 5' 75.5367 6.72735 0.308454 7.21695 75.5367 6.72735 0.308454 7.21695 0 rs2845370 yes no Frequency/1000G 2 G 0.000000 0 0.000049 0.000000 0.000000 0.000000 0.000000 0.000000 0.000101 0.000000 0.000000 0.000101 1 0 0 0 0 0 1 0 0 20206 5902 488 180 638 0 9928 2450 620 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transition C T C>T 0.984 3.999 111 PASS 0.08 0.11 0.1 0.18 0.08 . . . . . . . . . . . 1.0 . . @ 105 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 105.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.9549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . 0.39 0.34 182 ENSG00000241717 TPTEP1 . . . dist\x3d21774\x3bdist\x3d86102 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . rs2845370 0.565 0.543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.949e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.56 rs2845370 rs2845370 rs2845370 rs2845370 1 1538 255 1.I 0,0,255 +rs2845371 22 17178213 A G - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17178213 17178213 Chr22(GRCh37):g.17178213A>G 1573 1573 ENST00000457911.1:n.1573T>C 6 -546 5' 75.5367 6.72735 0.308454 7.21695 75.5367 6.72735 0.308454 7.21695 0 rs2845371 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.066094 0.042400 0.036800 0.117100 0.069600 0.073500 0.000991 0.002544 0.000000 0.000000 0.000000 0.000000 0.000505 0.000000 0.000000 0.002544 20 15 0 0 0 0 5 0 0 20178 5896 480 186 644 0 9906 2448 618 0.100000 0.066667 0.000000 0.000000 0.000000 0.000000 0.200000 0.000000 0.000000 2 1 0 0 0 0 1 0 0 16 13 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 31 Genomes transition T C T>C 1.000 3.272 111 PASS 0.08 0.11 0.11 0.17 0.08 0.042 0.066 0.073 0.12 0.07 0.037 . . . . . 1.0 . . @ 112 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.9452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . 0.0661 . . . 0.32 0.24 182 ENSG00000241717 TPTEP1 . . . dist\x3d21783\x3bdist\x3d86093 . . . 1353 0.0208231 64976 1119 0.0186544 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . rs2845371 0.565 0.543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0010 0 0 0 0 0.0005 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.56 rs2845371 rs2845371 rs2845371 rs2845371 1 1538 255 1.I 0,0,255 +rs16981507 22 17178230 C T - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17178230 17178230 Chr22(GRCh37):g.17178230C>T 1556 1556 ENST00000457911.1:n.1556G>A 6 -563 5' 75.5367 6.72735 0.308454 7.21695 75.5367 6.72735 0.308454 7.21695 0 New Acceptor Site 17178228 2.38691 0.135508 73.7154 rs16981507 yes no Frequency/HapMap/1000G 3 C 0.000000 0 0.000395 0.000172 0.002075 0.000000 0.000000 0.000000 0.000595 0.000000 0.000000 0.002075 8 1 1 0 0 0 6 0 0 20274 5824 482 192 642 0 10078 2434 622 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 1 1 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 RF 31 Genomes transition G A G>A 0.984 0.205 255 PASS 0.05 0.04 0.01 0.07 0.03 . . . . . . . . . . . 0.44 . . @ 44 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 100.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . 0.45 0.38 182 ENSG00000241717 TPTEP1 . . . dist\x3d21800\x3bdist\x3d86076 . . . 859 0.0132203 64976 667 0.0111193 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs16981507 0.043 0.029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0004 0.0021 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.07 rs16981507 rs16981507 rs16981507 rs16981507 1 1538 10 1/0 0,255,255 +rs5993924 22 17178586 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17178586 17178586 Chr22(GRCh37):g.17178586G>A 1200 1200 ENST00000457911.1:n.1200C>T 6 461 3' 87.3377 9.76835 0.97708 XI.03 87.3377 9.76835 0.97708 XI.03 0 rs5993924 yes no Frequency/HapMap/1000G 3 G 0.000000 0 0.000200 0.000000 0.000000 0.001000 0.000000 0.000000 0.001951 0.000000 0.000000 0.000000 0.000805 0.000000 0.000988 0.011933 0.005602 0.011933 46 0 0 0 1 0 11 30 4 23574 7160 592 220 1242 0 11132 2514 714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 46 0 0 0 1 0 11 30 4 0 0 0 0 0 0 0 0 0 RF 31 Genomes transition C T C>T 0.984 1.739 255 PASS 0.002 0.01 0.02 0.0017 0.03 . 0.0002 . 0.001 . . . . . . . 0.5020576 . . @ 122 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 243.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.6595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . 0.0002 . . . 0.44 0.44 182 . TPTEP1 . . . dist\x3d22156\x3bdist\x3d85720 . . . 625 0.00961894 64976 625 0.0104191 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs5993924 0.065 0.087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0020 0 0 0.0008 0.0119 0.0010 0.0056 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.065 rs5993924 rs5993924 rs5993924 rs118123817 1 1538 10 1/0 0,222,241 +rs5746870 22 17182096 T C - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182096 17182096 Chr22(GRCh37):g.17182096T>C 551 551 ENST00000457911.1:n.551A>G 4 -53 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 14.2853 0 Cryptic Acceptor Weakly Activated 17182077 6.68972 0.177947 78.07 7.15365 0.190501 78.07 rs5746870 no no 0 C 0.000000 0 transition A G A>G 0.803 -1.570 255 PASS . . . . . . . . . . . . . . . . 0.43157893 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.64 0.47 182 ENSG00000241717 . . . dist\x3d2575\x3bdist\x3d45663 dist\x3d25666\x3bdist\x3d82210 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs5746870 0.043 0.058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs5746870 rs5746870 rs5746870 rs5746870 1 1538 10 1/0 0,254,255 +rs5748550 22 17182111 A G - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182111 17182111 Chr22(GRCh37):g.17182111A>G 536 536 ENST00000457911.1:n.536T>C 4 -68 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 13.9315 0 rs5748550 no no 0 G 0.000000 0 transition T C T>C 1.000 0.770 255 PASS . . . . . . . . . . . . . . . . 0.4019608 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 102.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.5596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.58 0.51 182 ENSG00000241717 . . . dist\x3d2590\x3bdist\x3d45648 dist\x3d25681\x3bdist\x3d82195 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs5748550 0.043 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs5748550 rs5748550 rs5748550 rs199845257 1 1538 10 1/0 0,250,255 +rs5748551 22 17182117 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182117 17182117 Chr22(GRCh37):g.17182117G>A 530 530 ENST00000457911.1:n.530C>T 4 -74 5' 90.6189 10.0684 0.997184 13.9945 90.6189 10.0684 0.997184 13.4971 0 Cryptic Acceptor Strongly Activated 17182118 2.33216 0.00048 65.8963 3.31251 0.002366 65.8963 rs5748551 no no 0 G 0.000000 0 transition C T C>T 1.000 3.757 255 PASS . . . . . . . . . . . . . . . . 0.38613862 . . @ 39 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 101.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.7425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.64 0.52 182 ENSG00000241717 . . . dist\x3d2596\x3bdist\x3d45642 dist\x3d25687\x3bdist\x3d82189 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs5748551 0.043 0.065 . . . . . . . . . . . . . . . . . . . . . . . . . . II.46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs5748551 rs5748551 rs5748551 rs372408065 1 1538 10 1/0 0,250,255 +rs200492035 22 17182144 A C - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182144 17182144 Chr22(GRCh37):g.17182144A>C 503 503 ENST00000457911.1:n.503T>G 4 59 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.46809 0 rs200492035 no no 0 A 0.000000 0 transversion T G T>G 0.992 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.408 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 125.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.61 0.46 182 ENSG00000241717 . . . dist\x3d2623\x3bdist\x3d45615 dist\x3d25714\x3bdist\x3d82162 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200492035 0.326 0.312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 . rs71312074 rs200492035 rs200492035 1 1538 10 1/0 0,242,255 +rs201482413 22 17182147 G T - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182147 17182147 Chr22(GRCh37):g.17182147G>T 500 500 ENST00000457911.1:n.500C>A 4 56 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.0953 0 rs201482413 no no 0 G 0.000000 0 transversion C A C>A 0.992 -0.037 255 PASS . . . . . . . . . . . . . . . . 0.37903225 . . @ 47 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 124.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.65 0.44 182 ENSG00000241717 . . . dist\x3d2626\x3bdist\x3d45612 dist\x3d25717\x3bdist\x3d82159 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs201482413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201482413 rs201482413 1 1538 10 1/0 0,240,255 +rs200084034 22 17182148 C T - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182148 17182148 Chr22(GRCh37):g.17182148C>T 499 499 ENST00000457911.1:n.499G>A 4 55 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 8.78783 0 rs200084034 no no 0 C 0.000000 0 transition G A G>A 1.000 3.757 255 PASS . . . . . . . . . . . . . . . . 0.39259258 . . @ 53 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 135.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.9658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.61 0.5 182 ENSG00000241717 . . . dist\x3d2627\x3bdist\x3d45611 dist\x3d25718\x3bdist\x3d82158 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200084034 . . . . . . . . . . . . . . . . . . . . . . . . . . . . II.46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs200084034 rs200084034 1 1538 10 1/0 0,238,255 +rs4008538 22 17182168 G A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution exon GRCh37 17182168 17182168 Chr22(GRCh37):g.17182168G>A 479 479 ENST00000457911.1:n.479C>T 4 35 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 8.79271 0 rs4008538 no no 0 G 0.000000 0 transition C T C>T 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.38235295 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 136.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic intergenic . . . @ . . . 0.66 0.49 182 ENSG00000241717 . . . dist\x3d2647\x3bdist\x3d45591 dist\x3d25738\x3bdist\x3d82138 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs4008538 0.359 0.341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.36 rs4008538 rs4008538 rs4008538 rs150626147 1 1538 10 1/0 0,237,255 +rs4008539 22 17182236 C A - VWFP1 12727 Von Willebrand factor pseudogene 1 ENST00000457911.1 -1 2907 0 substitution intron GRCh37 17182236 17182236 Chr22(GRCh37):g.17182236C>A 445-34 445-34 ENST00000457911.1:n.445-34G>T p.? p.? 4 3 -34 3' 80.9074 9.20903 0.787626 9.20972 80.9074 9.20903 0.787626 9.29485 0 Cryptic Acceptor Strongly Activated 17182223 6.98537 0.032305 77.0626 7.24933 0.183457 82.6592 rs4008539 no no 0 C 0.000000 0 transversion G T G>T 0.000 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 36 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 90.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic intergenic . . . @ . . . 0.49 0.29 182 ENSG00000241717 . . . dist\x3d2715\x3bdist\x3d45523 dist\x3d25806\x3bdist\x3d82070 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs4008539 0.109 0.094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.11 rs4008539 rs4008539 rs4008539 rs4008539 1 1538 10 1/0 0,255,255 +rs9605145 22 17264904 A G - XKR3 28778 XK related 3 NM_001318251.1 -1 1693 1380 NP_001305180.1 Q5GH77 substitution synonymous exon GRCh37 17264904 17264904 Chr22(GRCh37):g.17264904A>G 985 985 NM_001318251.1:c.985T>C p.Leu329= p.Leu329Leu 4 611674 396 3' 82.6571 8.06283 0.821742 3.91938 82.6571 8.06283 0.821742 3.91938 0 rs9605145 yes no Frequency/HapMap/1000G 3 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 209314 12012 31742 7750 13262 25814 93660 20400 4674 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 56 Exomes COSM6237784 Liver 0.000422 2371 transition T C T>C 0.984 0.609 L Leu TTG 0.127 L Leu CTG 0.404 329 255 PASS . . . . . . . . . . . ENSG00000172967:ENST00000331428:exon4:c.T985C:p.L329L . XKR3:NM_175878:exon4:c.T985C:p.L329L . . 0.5060241 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L329|XKR3|mRNA|CODING|NM_175878|NM_175878.ex.4) . . . . . . . 0.4860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.55 0.3 182 ENSG00000172967 XKR3 XKR3 . . . . . . 780 0.0120044 64976 780 0.013003 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs9605145 0.348 0.312 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.35 rs9605145 rs9605145 rs9605145 rs115923704 1 1538 10 1/0 0,255,255 +rs9605146 22 17265194 G A - XKR3 28778 XK related 3 NM_001318251.1 -1 1693 1380 NP_001305180.1 Q5GH77 substitution missense exon GRCh37 17265194 17265194 Chr22(GRCh37):g.17265194G>A 695 695 NM_001318251.1:c.695C>T p.Pro232Leu p.Pro232Leu 4 611674 106 3' 82.6571 8.06283 0.821742 3.91938 82.6571 8.06283 0.821742 3.91938 0 rs9605146 yes no Frequency/HapMap/1000G 3 0.000000 0 CM1413688 Acute respiratory distress syndrome, association with 25372662 DP transition C T C>T 0.008 0.770 P Pro CCG 0.115 L Leu CTG 0.404 232 11 9 Zebrafish -3 -3 -5 0.39 0 8 4.IX 32.5 111 98 C0 113.73 IV.86 Tolerated 1 II.91 255 PASS 0.06 0.03 0.02 0.02 0.04 . . . . . . ENSG00000172967:ENST00000331428:exon4:c.C695T:p.P232L . XKR3:NM_175878:exon4:c.C695T:p.P232L . . 0.36 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.345 . @ . . . . . 1 0.198 . . 50.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P232L|XKR3|mRNA|CODING|NM_175878|NM_175878.ex.4) . . . . . . . -0.8974 -1.014 -0.897 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.605 . . exonic exonic exonic . . 0.111 @ . . . 0.49 0.35 182 ENSG00000172967 XKR3 XKR3 . . . 0.999 0.387 . 738 0.011358 64976 738 0.0123029 59986 Uncertain_significance . 0 . 0.229 . . . . T 0.087 0.004 . . 37 . 0.047 . . 0.129 . . . 0.357 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.857 . . 0 0 0 0 1 0 . 0.315 . . 0.184 . . . . . . 0 0.107 . . . . . 0.084 . 0.401 . HET 1 rs9605146 0.424 0.406 . . . . . 0.034340659340659344 0.05894308943089431 0.016574585635359115 0.019230769230769232 0.03825857519788918 III.35 . ENST00000331428 0.771 -0.57 . 0.650000 Q5GH77 . . . . . 0.153 . . . . . . . . . . . . . . . . . . . . . . 0.212 . -0.093 -0.093000 . . 0.650000 . . 1.0E-255 0.051 0.212 . 0.043 0.120 . 0.364 . 0.271 -0.093 0.562 0.42 rs9605146 rs9605146 rs9605146 rs114989947 1 1538 10 1/0 0,255,255 +rs367657501 22 18301202 C T - MICAL3 24694 Microtubule associated monooxygenase, calponin and LIM domain containing 3 NM_015241.2 -1 9445 6009 NP_056056.2 Q7RTP6 substitution missense exon GRCh37 18301202 18301202 Chr22(GRCh37):g.18301202C>T 4225 4225 NM_015241.2:c.4225G>A p.Asp1409Asn p.Asp1409Asn 26 608882 694 3' 86.1685 12.1767 0.987042 X.88 86.1685 12.1767 0.987042 X.88 0 rs367657501 yes no Frequency 1 C 0.000000 0 0.000015 0.000000 0.000029 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000029 4 0 1 0 0 0 3 0 0 274904 23652 34402 10108 18838 30778 125080 25612 6434 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8289 3888 12177 1 0 1 0.000120627 0 8.21153e-05 0.000120627 0 8.21153e-05 65 transition G A G>A 0.402 3.595 D Asp GAC 0.539 N Asn AAC 0.536 1409 12 4 Dog 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 353.86 0.00 Tolerated 0.21 III.35 bad 1.898E-3 0.0003791 255 PASS . . . . . . . . . . . ENSG00000243156:ENST00000441493:exon26:c.G4225A:p.D1409N . MICAL3:NM_015241:exon26:c.G4225A:p.D1409N . . 0.53333336 . . @ 88 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.427 . @ . . . . . 1 0.571 . . 165.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1409N|MICAL3|mRNA|CODING|NM_015241|NM_015241.ex.26) . 0.0001 0.0001 . 0.0001 0.0001 . -0.1308 -0.172 -0.131 c . . . . . 2.402e-05 . . . 0 2.325e-05 0 0 0 5.108e-05 0 0 0 1.942e-05 0 0 0 3.8e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.656 . . exonic exonic exonic . . 0.526 @ . . . 0.38 0.34 182 ENSG00000243156 MICAL3 MICAL3 . . . 0.999 0.398 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.758 0.091 . . 37 . 0.538 . . 0.636 . . . 0.562 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.287 . . 0 0 0 0 0 0 . 0.396 . . 0.282 . . . . . . 0 0.721 . . . . . 0.863 . 0.003 . HET 0.01 rs367657501 . . . . . . . . . . . . 17.0491 0.0 ENST00000441493 IV.42 IV.42 . 0.020000 Q7RTP6 . . . 0.000082 . 0.254 . . IV.42 0 1.23e-05 2.979e-05 0 0 0 1.817e-05 0 0 0 3.231e-05 0 0 0 0 6.672e-05 0 . . 0.465 . 2.013 2.013000 . . 0.020000 . . 1.0E-255 0.991 0.370 . 0.043 0.052 . 0.648 . 0.132 2.013 0.871 0.0001 . . rs367657501 rs367657501 1 1538 10 1/0 0,232,235 +. (chr22:18666678 T/G) 22 18666678 T G Not on a known gene +. (chr22:18668666 C/T) 22 18668666 C T Not on a known gene +rs62230881 (chr22:18679019 G/C) 22 18679019 G C Not on a known gene +. (chr22:18682494 G/A) 22 18682494 G A Not on a known gene +. (chr22:18688509 A/G) 22 18688509 A G Not on a known gene +. (chr22:18688512 A/T) 22 18688512 A T Not on a known gene +. (chr22:18688514 C/G) 22 18688514 C G Not on a known gene +. (chr22:18688523 C/A) 22 18688523 C A Not on a known gene +rs201264349 (chr22:18688537 C/T) 22 18688537 C T Not on a known gene +. (chr22:18688545 G/C) 22 18688545 G C Not on a known gene +rs199640204 (chr22:18688548 T/A) 22 18688548 T A Not on a known gene +rs200736805 (chr22:18688554 C/A) 22 18688554 C A Not on a known gene +. (chr22:18688570 A/G) 22 18688570 A G Not on a known gene +. (chr22:18688579 C/G) 22 18688579 C G Not on a known gene +rs376674847 (chr22:18688583 A/C) 22 18688583 A C Not on a known gene +rs201928038 (chr22:18688595 G/A) 22 18688595 G A Not on a known gene +. (chr22:18688606 G/T) 22 18688606 G T Not on a known gene +. (chr22:18688612 A/C) 22 18688612 A C Not on a known gene +rs374447696 (chr22:18688617 C/T) 22 18688617 C T Not on a known gene +. (chr22:18688619 C/G) 22 18688619 C G Not on a known gene +. (chr22:18688627 T/C) 22 18688627 T C Not on a known gene +. (chr22:18688634 C/T) 22 18688634 C T Not on a known gene +. (chr22:18688635 T/A) 22 18688635 T A Not on a known gene +rs200099951 (chr22:18688645 T/C) 22 18688645 T C Not on a known gene +. (chr22:18688652 A/C) 22 18688652 A C Not on a known gene +. (chr22:18688657 G/A) 22 18688657 G A Not on a known gene +. (chr22:18688665 G/A) 22 18688665 G A Not on a known gene +rs62231662 (chr22:18688670 C/G) 22 18688670 C G Not on a known gene +. (chr22:18688685 A/G) 22 18688685 A G Not on a known gene +. 22 18721475 G A - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution exon GRCh37 18721475 18721475 Chr22(GRCh37):g.18721475G>A 49 49 NR_136561.1:n.49G>A 1 -93 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 18721486 3.33092 0.61293 7.48711 0.565101 78.6594 0.000133 0.000000 0.000000 0.000000 0.000000 0.000000 0.000280 0.000000 0.000000 0.000280 4 0 0 0 0 0 4 0 0 30166 8692 834 274 1616 0 14296 3480 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 1222 Genomes transition G A G>A 0.000 -14.080 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intergenic . . . @ . . . 0.6 0.33 182 ENSG00000182824 AK302545 . ENST00000342888:c.-65G>A uc011agn.2:c.-65G>A dist\x3d61313\x3bdist\x3d39727 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 22 18721482 A G - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution exon GRCh37 18721482 18721482 Chr22(GRCh37):g.18721482A>G 56 56 NR_136561.1:n.56A>G 1 -86 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 transition A G A>G 0.000 -14.080 196 PASS . . . . . . . . . . . . . . . . 0.14925373 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 67.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . ENST00000342888:c.-58A>G uc011agn.2:c.-58A>G dist\x3d61320\x3bdist\x3d39720 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +. 22 18721490 G C - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution exon GRCh37 18721490 18721490 Chr22(GRCh37):g.18721490G>C 64 64 NR_136561.1:n.64G>C 1 -78 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.640134 0 transversion G C G>C 0.000 -14.080 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . ENST00000342888:c.-50G>C uc011agn.2:c.-50G>C dist\x3d61328\x3bdist\x3d39712 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 22 18734800 C T - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18734800 18734800 Chr22(GRCh37):g.18734800C>T 474+153 474+153 NR_136561.1:n.474+153C>T p.? p.? 7 7 153 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 transition C T C>T 0.028 0.205 207 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 33.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d74638\x3bdist\x3d26402 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs368242676 22 18736829 T C - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18736829 18736829 Chr22(GRCh37):g.18736829T>C 474+2182 474+2182 NR_136561.1:n.474+2182T>C p.? p.? 7 7 2182 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 rs368242676 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.732 190 PASS . . . . . . . . . . . . . . . . 0.1388889 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d76667\x3bdist\x3d24373 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs368242676 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . rs1210208 rs368242676 rs368242676 1 1538 10 1/0 0,255,255 +. 22 18737022 C G - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18737022 18737022 Chr22(GRCh37):g.18737022C>G 475-2360 475-2360 NR_136561.1:n.475-2360C>G p.? p.? 8 7 -2360 3' 90.7446 8.98709 0.574351 9.99341 90.7446 8.98709 0.574351 9.99341 0 0.000476 0.001096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001096 3 3 0 0 0 0 0 0 0 6304 2736 114 70 720 0 2158 336 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 53 Genomes transversion C G C>G 0.000 0.286 249 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d76860\x3bdist\x3d24180 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0005 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 18737041 G A - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18737041 18737041 Chr22(GRCh37):g.18737041G>A 475-2341 475-2341 NR_136561.1:n.475-2341G>A p.? p.? 8 7 -2341 3' 90.7446 8.98709 0.574351 9.99341 90.7446 8.98709 0.574351 9.99341 0 0.000122 0.000255 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000255 1 1 0 0 0 0 0 0 0 8208 3916 160 64 794 0 2604 456 214 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition G A G>A 0.126 1.093 242 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 17.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d76879\x3bdist\x3d24161 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0001 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-242 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 18737486 C T - LINC01662 52450 Long intergenic non-protein coding RNA 1662 NR_136561.1 1 1859 0 substitution intron GRCh37 18737486 18737486 Chr22(GRCh37):g.18737486C>T 475-1896 475-1896 NR_136561.1:n.475-1896C>T p.? p.? 8 7 -1896 3' 90.7446 8.98709 0.574351 9.99341 90.7446 8.98709 0.574351 9.99341 0 0.002568 0.004470 0.002740 0.000000 0.000000 0.000000 0.001780 0.003160 0.001136 0.004470 71 35 2 0 0 0 24 9 1 27644 7830 730 290 1580 0 13486 2848 880 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 71 35 2 0 0 0 24 9 1 0 0 0 0 0 0 0 0 0 RF 60 Genomes transition C T C>T 0.008 -0.198 169 PASS . . . . . . . . . . . . . . . . 0.12179487 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 156.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic downstream intergenic . . . @ . . . . . . ENSG00000182824 AK302545 . . . dist\x3d77324\x3bdist\x3d23716 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0045 0.0026 0.0027 0 0 0.0032 0.0018 0.0011 . . . . . . . . . . . 1.0E-169 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +. 22 18761942 A G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution intron GRCh37 18761942 18761942 Chr22(GRCh37):g.18761942A>G 1642+39 1642+39 NR_003267.1:n.1642+39T>C p.? p.? 11 11 39 5' 81.3153 8.13727 0.914056 12.0471 81.3153 8.13727 0.914056 12.1397 0 transition T C T>C 0.000 -0.844 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . INTRON(MODIFIER||||GGT3P|Non-coding_transcript|NON_CODING|NR_003267|) . . . . . . . -0.3112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 22 18761975 A G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution intron GRCh37 18761975 18761975 Chr22(GRCh37):g.18761975A>G 1642+6 1642+6 NR_003267.1:n.1642+6T>C p.? p.? 11 11 6 5' 81.3153 8.13727 0.914056 12.0471 75.5367 6.72735 0.863321 10.1048 -0.0999454 transition T C T>C 0.520 0.690 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . INTRON(MODIFIER||||GGT3P|Non-coding_transcript|NON_CODING|NR_003267|) . . . . . . . 0.5192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,250,255 +. 22 18761991 T G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18761991 18761991 Chr22(GRCh37):g.18761991T>G 1632 1632 NR_003267.1:n.1632A>C 11 -11 5' 81.3153 8.13727 0.914056 12.0471 81.3153 8.13727 0.914056 XI.75 0 transversion A C A>C 0.000 1.416 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 64.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R544S|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.11) . . . . . . . 0.1299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.57 0.4 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . rs3984391 rs3984391 rs3984391 rs3984391 1 1538 10 1/0 0,247,255 +. 22 18762074 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18762074 18762074 Chr22(GRCh37):g.18762074G>A 1549 1549 NR_003267.1:n.1549C>T 11 20 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.460382 X.15 0.0230596 transition C T C>T 1.000 1.255 255 PASS . . . . . . . . . . . . . . . . 0.52272725 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H517Y|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.11) . . . . . . . 0.6304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 18762228 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18762228 18762228 Chr22(GRCh37):g.18762228G>A 1497 1497 NR_003267.1:n.1497C>T 10 -33 5' 84.8076 9.98517 0.930622 10.708 84.8076 9.98517 0.930622 9.93894 0 transition C T C>T 0.992 1.820 211 PASS . . . . . . . . . . . . . . . . 0.18987341 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G499|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.10) . . . . . . . 0.4334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.56 0.49 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs1062459 rs1062459 rs1062459 rs1062459 1 1538 10 1/0 0,244,255 +rs142518539 22 18766254 C T - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766254 18766254 Chr22(GRCh37):g.18766254C>T 1203 1203 NR_003267.1:n.1203G>A 8 -12 5' 91.9265 X.44 0.995952 X.85 91.9265 X.44 0.995952 X.84 0 Cryptic Donor Strongly Activated 18766252 2.89923 0.007742 67.272 3.24636 0.027404 70.02 rs142518539 no no 0 C 0.000000 0 transition G A G>A 1.000 1.013 253 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 15.0 . . STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W401*|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.8) . . . . . . . 0.3552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.45 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs142518539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . rs142518539 rs142518539 1 1538 10 1/0 0,255,255 +rs879123244 22 18766302 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766302 18766302 Chr22(GRCh37):g.18766302G>A 1155 1155 NR_003267.1:n.1155C>T 8 -60 5' 91.9265 X.44 0.995952 X.85 91.9265 X.44 0.995952 10.1058 0 rs879123244 no no 0 G 0.000000 0 transition C T C>T 1.000 2.223 253 PASS . . . . . . . . . . . . . . . . 0.33333334 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S385|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.8) . . . . . . . 0.7696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879054978 22 18766357 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766357 18766357 Chr22(GRCh37):g.18766357G>A 1100 1100 NR_003267.1:n.1100C>T 8 23 3' 78.7424 5.81816 0.053305 3.42046 78.7424 5.81816 0.053305 3.43413 0 rs879054978 no no 0 G 0.000000 0 transition C T C>T 0.992 0.044 255 PASS . . . . . . . . . . . . . . . . 0.3846154 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 13.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A367V|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.8) . . . . . . . -0.1739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs879185732 22 18766365 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766365 18766365 Chr22(GRCh37):g.18766365G>A 1092 1092 NR_003267.1:n.1092C>T 8 15 3' 78.7424 5.81816 0.053305 3.42046 78.7424 5.81816 0.071081 3.21028 0.111159 rs879185732 no no 0 G 0.000000 0 0.000048 0.000000 0.001618 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001618 1 0 1 0 0 0 0 0 0 20704 5834 618 186 858 0 9754 2808 646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 35 Genomes transition C T C>T 0.236 0.367 255 PASS . . . . . . . . . . . . . . . . 0.35714287 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P364|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.8) . . . . . . . 0.1404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.83e-05 0.0016 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs199524818 22 18766947 C G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18766947 18766947 Chr22(GRCh37):g.18766947C>G 1033 1033 NR_003267.1:n.1033G>C 7 -45 5' 95.331 X.37 0.994427 13.6895 95.331 X.37 0.994427 13.6349 0 rs199524818 yes no Frequency/1000G 2 C 0.000000 0 transversion G C G>C 0.984 1.497 196 PASS . . . . . . . . . . . . . . . . 0.15151516 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 33.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G345R|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.7) . . . . . . . -0.0463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0010 . . . 0.57 0.46 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199524818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . rs4051647 rs4051647 rs4051647 rs199524818 1 1538 10 1/0 0,255,255 +rs62229896 22 18767057 A G - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution splice site GRCh37 18767057 18767057 Chr22(GRCh37):g.18767057A>G 928-5 928-5 NR_003267.1:n.928-5T>C p.? p.? 7 6 -5 3' 88.576 8.66421 0.785676 9.08489 85.0304 7.44078 0.749096 8.19409 -0.0759309 rs62229896 no no 0 A 0.000000 0 transition T C T>C 0.118 0.448 255 PASS . . . . . . . . . . . . . . . . 0.36666667 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 30.0 . . INTRON(MODIFIER||||GGT3P|Non-coding_transcript|NON_CODING|NR_003267|) . . . . . . . -0.2287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.51 0.34 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62229896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62229896 rs62229896 rs62229896 rs147087180 1 1538 10 1/0 0,255,255 +rs62229897 22 18767059 T C - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution intron GRCh37 18767059 18767059 Chr22(GRCh37):g.18767059T>C 928-7 928-7 NR_003267.1:n.928-7A>G p.? p.? 7 6 -7 3' 88.576 8.66421 0.785676 9.08489 88.576 VIII.05 0.748444 8.98353 -0.0263267 rs62229897 no no 0 T 0.000000 0 transition A G A>G 0.008 -0.360 255 PASS . . . . . . . . . . . . . . . . 0.34375 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . INTRON(MODIFIER||||GGT3P|Non-coding_transcript|NON_CODING|NR_003267|) . . . . . . . -0.4042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.57 0.41 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs62229897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62229897 rs62229897 rs62229897 rs146912081 1 1538 10 1/0 0,255,255 +rs189425726 22 18775061 G A - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18775061 18775061 Chr22(GRCh37):g.18775061G>A 559 559 NR_003267.1:n.559C>T 4 -18 5' 84.954 9.04032 0.996223 7.86416 84.954 9.04032 0.996223 7.52994 0 rs189425726 no no 0 G 0.000000 0 transition C T C>T 0.866 2.950 222 PASS . . . . . . . . . . . . . . . . 0.22 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 150.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R187W|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.4) . . . . . . . 0.6739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.44 0.2 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs189425726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . rs189425726 rs189425726 1 1538 10 1/0 0,220,255 +rs180803714 22 18775105 G T - GGT3P 4252 Gamma-glutamyltransferase 3 pseudogene NR_003267.1 -1 2036 0 substitution exon GRCh37 18775105 18775105 Chr22(GRCh37):g.18775105G>T 515 515 NR_003267.1:n.515C>A 4 20 3' 0 0 3,00E-05 0 0 0 2,00E-05 0 -0.333333 rs180803714 no no 0 G 0.000000 0 transversion C A C>A 0.921 -1.489 175 PASS . . . . . . . . . . . . . . . . 0.10294118 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 272.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gAg|A172E|GGT3P|Non-coding_transcript|NON_CODING|NR_003267|NR_003267.ex.4) . . . . . . . 0.0663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.49 0.25 182 ENSG00000197421 GGT3P GGT3P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs180803714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs180803714 rs180803714 1 1538 10 1/0 0,183,255 +rs200326813 (chr22:18835523 T/A) 22 18835523 T A Not on a known gene +. 22 18863239 G A - LINC01663 52451 Long intergenic non-protein coding RNA 1663 NR_136571.1 -1 3190 0 substitution intron GRCh37 18863239 18863239 Chr22(GRCh37):g.18863239G>A 436+153 436+153 NR_136571.1:n.436+153C>T p.? p.? 7 7 153 5' 79.3529 8.77984 0.976494 1.63173 79.3529 8.77984 0.976494 1.63173 0 transition C T C>T 0.000 -0.117 219 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d17086\x3bdist\x3d30302 dist\x3d13945\x3bdist\x3d30497 dist\x3d83765\x3bdist\x3d30497 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-219 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 18863387 C T - LINC01663 52451 Long intergenic non-protein coding RNA 1663 NR_136571.1 -1 3190 0 substitution splice site GRCh37 18863387 18863387 Chr22(GRCh37):g.18863387C>T 436+5 436+5 NR_136571.1:n.436+5G>A p.? p.? 7 7 5 5' 79.3529 8.77984 0.976494 1.63173 67.2013 0.648973 0.359496 0 -0.570356 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64230 5410 13010 2402 6768 7240 25804 1672 1924 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 88 Exomes transition G A G>A 0.051 0.609 178 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d17234\x3bdist\x3d30154 dist\x3d14093\x3bdist\x3d30349 dist\x3d83913\x3bdist\x3d30349 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs376319831 22 18907261 T C - PRODH 9453 Proline dehydrogenase (oxidase) 1 NM_016335.4 -1 2408 1803 NP_057419.4 substitution synonymous exon GRCh37 18907261 18907261 Chr22(GRCh37):g.18907261T>C 1062 1062 NM_016335.4:c.1062A>G p.Leu354= p.Leu354Leu 10 606810 -43 5' 89.5524 9.59704 0.985726 14.5156 89.5524 9.59704 0.985726 14.9108 0 Proline dehydrogenase rs376319831 yes no Frequency 1 0.000000 0 0.000202 0.000000 0.000000 0.000000 0.000000 0.000000 0.000340 0.000465 0.000155 0.000465 56 0 0 0 0 0 43 12 1 276762 23972 34392 10144 18854 30742 126418 25784 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 56 0 0 0 0 0 43 12 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 89 transition A G A>G 0.701 -0.117 L Leu CTA 0.070 L Leu CTG 0.404 354 255 PASS . . . . . . . . . . . . . . . . 0.5565217 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 115.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 1.0166 . . . . . . . . 1.658e-04 . . . 0 0.0002 0 0 0.0005 0.0003 0 0 0 9.65e-05 0 0 0.0003 0.0001 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.51 182 ENSG00000100033 PRODH PRODH . . . . . . 6 9.23418e-05 64976 6 0.000100023 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376319831 . . . . . . . . . . . . . . . . . . . . . . . 0.000154 . . . . . 0 0.0002 0 0 0 0.0005 0.0003 0.0002 0 0 0.0005 0 0 0 0 0.0010 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs376319831 rs376319831 1 1538 10 1/0 0,255,255 +. 22 19189003 A AC - CLTCL1 2093 Clathrin, heavy chain-like 1 NM_007098.3 -1 5515 4923 NP_009029.3 P53675 duplication frameshift exon GRCh37 19189003 19189004 Chr22(GRCh37):g.19189004dup 3601 3601 NM_007098.3:c.3601dup p.Val1201Glyfs*19 p.Val1201Glyfs*19 23 601273 0 3' 0 0 0 0 0 0 0 0 0 New Acceptor Site 19189003 6.59412 0.884838 80.9017 Clathrin, heavy chain/VPS, 7-fold repeat Clathrin, heavy chain rs11386977 yes no Frequency/1000G 2 benign 0.000000 0 0.999800 0.999200 1.000000 1.000000 1.000000 1.000000 0.999975 0.999958 1.000000 1.000000 1.000000 0.999967 0.999960 1.000000 1.000000 1.000000 275143 23981 34274 10102 18846 30733 125013 25768 6426 275150 23982 34274 10102 18846 30734 125018 25768 6426 0.999949 0.999917 1.000000 1.000000 1.000000 0.999935 0.999920 1.000000 1.000000 137568 11990 17137 5051 9423 15366 62504 12884 3213 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 0 6 6 7956 3748 11704 0 0.0015983 0.000512383 1 0.998402 0.999488 75 RCV000455507.1 germline clinical testing Benign 1 not specified COSM5713380 Central nervous system 0.000826 2422 G 255 Pass . . . . . 1. 1. 1. 1. 1. 1. . . . . . 0.98913044 . . . 91 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 92 . . . . . . 1. 1. 1. . . . . . . . . . . 1.000 . . . 0.9999 1.0000 1 1 1 1 1 0.9999 0.9999 0.9999 1 1 1 0.9999 1 0.9999 frameshift_insertion frameshift_insertion frameshift_insertion . . . exonic exonic exonic . . . . . . . . . . ENSG00000070371 CLTCL1 CLTCL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . . . . . . . . HOM . rs11386977 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1.0000 1 1 1 1 1.0000 1 1.0000 1 1.0000 1 1 1 1 0.9999 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs72564418 rs11386977 rs11386977 1 1538 255 1.I 0,0,255 +rs151117263 22 19951117 G C - COMT 2228 Catechol-O-methyltransferase NM_000754.3 1 2304 816 NP_000745.1 P21964 substitution missense exon GRCh37 19951117 19951117 Chr22(GRCh37):g.19951117G>C 318 318 NM_000754.3:c.318G>C p.Glu106Asp p.Glu106Asp 4 116790 29 3' 74.5374 5.78752 0.80888 X.32 74.5374 5.78752 0.80888 X.46 0 Cryptic Acceptor Strongly Activated 19951115 1.13852 0.002536 72.0419 2.17411 0.005562 72.0419 O-methyltransferase, family 3 Catechol O-methyltransferase, eukaryotic rs151117263 yes no Frequency 1 G 0.000000 0 0.000122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000171 0.000456 0.000183 0.000456 30 0 0 0 0 0 19 10 1 244900 15234 33570 9834 17220 30778 110858 21934 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 19 10 1 0 0 0 0 0 0 0 0 0 PASS 79 Exomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 50 transversion G C G>C 0.898 1.416 E Glu GAG 0.583 D Asp GAC 0.539 106 14 14 C. savignyi 2 2 2 0.92 I.38 12.III 13 83 54 45 C35 0.00 44.60 Deleterious 0 III.43 bad 1.379E-3 4.386E-5 255 PASS . . . . . . . . . . . . . . . . 0.43283582 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.216 . @ . . . . . 1 0.384 . . 134.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.5615 -0.554 -0.561 c . . . . . 1.581e-04 . . . 0 0.0001 0 0 0.0005 0.0002 0 0 0 0.0002 0 0 0.0006 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.254 @ . . . 0.21 0.33 182 ENSG00000093010 COMT COMT . . . 1.000 0.747 . 10 0.000153903 64976 10 0.000166706 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.371 0.016 . . 37 . 0.185 . . 0.061 . . . 0.557 0.480 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.214 . . 0.231 . . . . . . 0 0.324 . . . . . 0.303 . 0.764 . HET 0.02 rs151117263 . . . . . . . . . . . . 8.1815 0.0 . V.25 2.0 . . . . . . 0.000154 . 0.427 . . . 0 0.0001 0 0 0 0.0005 0.0002 0.0002 0 . . . . . . . . . . 0.980 . 0.312 0.312000 . . . . . 1.0E-255 0.743 0.288 . 0.122 0.025 . 0.296 . 0.213 0.312 0.917 0.0002 . . rs151117263 rs151117263 1 1538 10 1/0 0,240,255 +rs151117263 22 19951117 G C - MIR4761 41591 MicroRNA 4761 NR_039918.1 1 82 0 substitution upstream GRCh37 19951117 19951117 Chr22(GRCh37):g.19951117G>C -159 -159 NR_039918.1:n.-159G>C p.? p.? 1 rs151117263 yes no Frequency 1 G 0.000000 0 0.000122 0.000000 0.000000 0.000000 0.000000 0.000000 0.000171 0.000456 0.000183 0.000456 30 0 0 0 0 0 19 10 1 244900 15234 33570 9834 17220 30778 110858 21934 5472 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 19 10 1 0 0 0 0 0 0 0 0 0 PASS 79 Exomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 50 transversion G C G>C 0.898 1.416 255 PASS . . . . . . . . . . . . . . . . 0.43283582 . . @ 58 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.216 . @ . . . . . 1 0.384 . . 134.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.5615 -0.554 -0.561 c . . . . . 1.581e-04 . . . 0 0.0001 0 0 0.0005 0.0002 0 0 0 0.0002 0 0 0.0006 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.217 . . exonic exonic exonic . . 0.254 @ . . . 0.21 0.33 182 ENSG00000093010 COMT COMT . . . 1.000 0.747 . 10 0.000153903 64976 10 0.000166706 59986 Uncertain_significance . 0 . 0.843 . . . . T 0.371 0.016 . . 37 . 0.185 . . 0.061 . . . 0.557 0.480 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.457 . . 0 0 0 0 0 0 . 0.214 . . 0.231 . . . . . . 0 0.324 . . . . . 0.303 . 0.764 . HET 0.02 rs151117263 . . . . . . . . . . . . 8.1815 0.0 . V.25 2.0 . . . . . . 0.000154 . 0.427 . . . 0 0.0001 0 0 0 0.0005 0.0002 0.0002 0 . . . . . . . . . . 0.980 . 0.312 0.312000 . . . . . 1.0E-255 0.743 0.288 . 0.122 0.025 . 0.296 . 0.213 0.312 0.917 0.0002 . . rs151117263 rs151117263 1 1538 10 1/0 0,240,255 +rs774972671 22 20102790 G A - MIR6816 50256 MicroRNA 6816 NR_106874.1 -1 66 0 substitution upstream GRCh37 20102790 20102790 Chr22(GRCh37):g.20102790G>A -516 -516 NR_106874.1:n.-516C>T p.? p.? 1 rs774972671 yes no Frequency 1 G 0.000000 0 transition C T C>T 1.000 2.304 255 PASS . . . . . . . . . . . . . . . . 0.4878049 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 1 0.985 . . 82.0 . . . . . . . . . . 0.6827 0.607 0.683 c . . . . . 7.903e-06 . . . 0 1.147e-05 0 0 0 2.487e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.515 @ . . . . . . ENSG00000099899 TRMT2A TRMT2A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.862 0.190 . . 37 . 0.695 . . 0.747 . . . 0.895 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.905 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 2 0.721 . . . . . 0.535 . 0.957 . HET 0 rs774972671 . . . . . . . . . . . . XII.39 . . 5.IV IV.36 . 0.000000 . 0.0716 0.328 . . . 0.625 . . IV.36 . . . . . . . . . . . . . . . . . . . 0.442 . 1.226 1.226000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.536 0.998 . 0.654 . 0.713 1.226 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs774972671 22 20102790 G A - RANBP1 9847 RAN binding protein 1 NM_001278639.1 1 1389 837 NP_001265568.1 substitution upstream GRCh37 20102790 20102790 Chr22(GRCh37):g.20102790G>A -918 -918 NM_001278639.1:c.-918G>A p.? p.? 1 601180 -1164 5' 79.0152 7.19599 0.914366 10.1052 79.0152 7.19599 0.914366 10.1052 0 rs774972671 yes no Frequency 1 G 0.000000 0 transition G A G>A 1.000 2.304 255 PASS . . . . . . . . . . . . . . . . 0.4878049 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 1 0.985 . . 82.0 . . . . . . . . . . 0.6827 0.607 0.683 c . . . . . 7.903e-06 . . . 0 1.147e-05 0 0 0 2.487e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.515 @ . . . . . . ENSG00000099899 TRMT2A TRMT2A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.862 0.190 . . 37 . 0.695 . . 0.747 . . . 0.895 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.905 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 2 0.721 . . . . . 0.535 . 0.957 . HET 0 rs774972671 . . . . . . . . . . . . XII.39 . . 5.IV IV.36 . 0.000000 . 0.0716 0.328 . . . 0.625 . . IV.36 . . . . . . . . . . . . . . . . . . . 0.442 . 1.226 1.226000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.536 0.998 . 0.654 . 0.713 1.226 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs774972671 22 20102790 G A - TRMT2A 24974 TRNA methyltransferase 2 homolog A NM_022727.5 -1 2964 1878 NP_073564.3 Q8IZ69 substitution missense exon GRCh37 20102790 20102790 Chr22(GRCh37):g.20102790G>A 889 889 NM_022727.5:c.889C>T p.Arg297Trp p.Arg297Trp 4 611151 -2 5' 81.7046 9.35132 0.986823 7.64956 82.1078 8.29716 0.97847 6.40771 -0.0387528 rs774972671 yes no Frequency 1 G 0.000000 0 transition C T C>T 1.000 2.304 R Arg CGG 0.207 W Trp TGG 1.000 297 12 10 Fruitfly -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 113.55 46.61 Deleterious 0.01 II.85 255 PASS . . . . . . . . . . . . . . . . 0.4878049 . . @ 40 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.948 . @ . . . . . 1 0.985 . . 82.0 . . . . . . . . . . 0.6827 0.607 0.683 c . . . . . 7.903e-06 . . . 0 1.147e-05 0 0 0 2.487e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.507 . . exonic exonic exonic . . 0.515 @ . . . . . . ENSG00000099899 TRMT2A TRMT2A . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . D 0.862 0.190 . . 37 . 0.695 . . 0.747 . . . 0.895 0.810 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.905 . . 0 0 0 0 0 0 . 0.899 . . 0.769 . . . . . . 2 0.721 . . . . . 0.535 . 0.957 . HET 0 rs774972671 . . . . . . . . . . . . XII.39 . . 5.IV IV.36 . 0.000000 . 0.0716 0.328 . . . 0.625 . . IV.36 . . . . . . . . . . . . . . . . . . . 0.442 . 1.226 1.226000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.536 0.998 . 0.654 . 0.713 1.226 0.917 . . . . . 1 1538 10 1/0 0,255,255 +rs369110394 (chr22:20326396 T/C) 22 20326396 T C Not on a known gene +. (chr22:20326398 G/A) 22 20326398 G A Not on a known gene +rs372835520 (chr22:20326416 C/T) 22 20326416 C T Not on a known gene +rs879130068 (chr22:20326429 T/G) 22 20326429 T G Not on a known gene +. (chr22:20326436 A/G) 22 20326436 A G Not on a known gene +. (chr22:20326469 T/G) 22 20326469 T G Not on a known gene +. (chr22:20326486 C/T) 22 20326486 C T Not on a known gene +rs76368489 (chr22:20326511 T/C) 22 20326511 T C Not on a known gene +rs373965546 (chr22:20326536 C/G) 22 20326536 C G Not on a known gene +rs376892937 (chr22:20326544 G/A) 22 20326544 G A Not on a known gene +rs371429968 (chr22:20326558 G/T) 22 20326558 G T Not on a known gene +rs79667573 (chr22:20326569 T/A) 22 20326569 T A Not on a known gene +rs199947698 22 20339058 C G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution intron GRCh37 20339058 20339058 Chr22(GRCh37):g.20339058C>G 79-14 79-14 NR_136560.1:n.79-14C>G p.? p.? 2 1 -14 3' 76.6393 7.24413 0.834138 9.32058 74.2296 6.40046 0.813157 8.58434 -0.0576858 New Donor Site 20339057 1.30274 0.0169 60.8801 rs199947698 no no 0 0.000000 0 transversion C G C>G 0.016 0.528 237 PASS . . . . . . . . . . . . . . . . 0.2682927 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 41.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.47 0.32 182 . LOC729444 . . . dist\x3d31430\x3bdist\x3d38611 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs199947698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . rs4350848 rs4350848 rs4350848 rs199947698 1 1538 10 1/0 0,255,255 +rs62218058 22 20339654 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution intron GRCh37 20339654 20339654 Chr22(GRCh37):g.20339654A>G 174+22 174+22 NR_136560.1:n.174+22A>G p.? p.? 3 3 22 5' 79.3529 8.77984 0.976494 2.18117 79.3529 8.77984 0.976494 2.21374 0 rs62218058 yes no Frequency 1 0.000000 0 0.002541 0.000000 0.000000 0.000000 0.000000 0.000000 0.003233 0.002857 0.000000 0.003233 4 0 0 0 0 0 3 1 0 1574 168 54 12 2 0 928 350 60 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 3 1 0 0 0 0 0 0 0 0 0 0 RF 88 Genomes transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.41666666 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 12.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.38 0.37 182 . LOC729444 . . . dist\x3d32026\x3bdist\x3d38015 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs62218058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0025 0 0 0 0.0029 0.0032 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs471289 rs471289 rs471289 rs201602295 1 1538 10 1/0 0,255,255 +rs866093777 22 20342087 C T - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342087 20342087 Chr22(GRCh37):g.20342087C>T 409 409 NR_136560.1:n.409C>T 4 235 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs866093777 no no 0 C 0.000000 0 0.000261 0.000733 0.000000 0.000000 0.000000 0.000000 0.000093 0.000000 0.000000 0.000733 6 5 0 0 0 0 1 0 0 22966 6818 588 184 1302 0 10728 2642 704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 5 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition C T C>T 0.000 0.286 207 PASS . . . . . . . . . . . . . . . . 0.17777778 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 135.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34459\x3bdist\x3d35582 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0003 0 0 0 0 9.321e-05 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796414697 22 20342101 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342101 20342101 Chr22(GRCh37):g.20342101A>G 423 423 NR_136560.1:n.423A>G 4 249 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs796414697 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.037 206 PASS . . . . . . . . . . . . . . . . 0.16428572 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 140.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34473\x3bdist\x3d35568 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.03 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,224,255 +. 22 20342104 G T - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342104 20342104 Chr22(GRCh37):g.20342104G>T 426 426 NR_136560.1:n.426G>T 4 252 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 Cryptic Acceptor Weakly Activated 20342107 60.575 2.81037 0.001505 65.2203 rs1006143538 no no 0 G 0.000000 0 transversion G T G>T 0.008 -0.521 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 158.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34476\x3bdist\x3d35565 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,209,255 +rs142563569 22 20342105 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342105 20342105 Chr22(GRCh37):g.20342105A>G 427 427 NR_136560.1:n.427A>G 4 253 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs142563569 no no 0 A 0.000000 0 transition A G A>G 0.031 2.062 218 PASS . . . . . . . . . . . . . . . . 0.24444444 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 135.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . 0.55 0.41 182 ENSG00000188424 LOC729444 . . . dist\x3d34477\x3bdist\x3d35564 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.02 rs142563569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . rs142563569 rs142563569 1 1538 10 1/0 0,227,255 +rs370227910 22 20342114 T C - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342114 20342114 Chr22(GRCh37):g.20342114T>C 436 436 NR_136560.1:n.436T>C 4 262 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs370227910 no no 0 T 0.000000 0 transition T C T>C 0.000 0.770 212 PASS . . . . . . . . . . . . . . . . 0.19148937 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 141.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34486\x3bdist\x3d35555 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.88 rs370227910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-212 . . . . . . . . . . . . . . rs370227910 rs370227910 1 1538 10 1/0 0,220,255 +rs12167504 22 20342118 G C - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342118 20342118 Chr22(GRCh37):g.20342118G>C 440 440 NR_136560.1:n.440G>C 4 266 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs12167504 yes no Frequency/1000G 2 G 0.000000 0 0.065096 0.226900 0.006100 0.003000 0.006000 0.015900 transversion G C G>C 0.000 -1.974 188 PASS . . . . . 0.23 0.065 0.016 0.003 0.006 0.0061 . . . . . 0.13071896 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 153.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . 0.0651 . . . 0.58 0.4 182 ENSG00000188424 LOC729444 . . . dist\x3d34490\x3bdist\x3d35551 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.35 rs12167504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs12167504 rs12167504 rs12167504 rs12167504 1 1538 10 1/0 0,211,255 +rs796965496 22 20342128 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342128 20342128 Chr22(GRCh37):g.20342128A>G 450 450 NR_136560.1:n.450A>G 4 276 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs796965496 no no 0 A 0.000000 0 transition A G A>G 0.000 -0.037 194 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 126.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34500\x3bdist\x3d35541 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.04 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 22 20342132 A G - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342132 20342132 Chr22(GRCh37):g.20342132A>G 454 454 NR_136560.1:n.454A>G 4 280 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs1025549020 no no 0 A 0.000000 0 transition A G A>G 0.063 2.062 170 PASS . . . . . . . . . . . . . . . . 0.12781955 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 133.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34504\x3bdist\x3d35537 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.02 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-170 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,217,255 +rs796957975 22 20342141 C T - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342141 20342141 Chr22(GRCh37):g.20342141C>T 463 463 NR_136560.1:n.463C>T 4 289 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 rs796957975 no no 0 C 0.000000 0 transition C T C>T 0.000 0.044 215 PASS . . . . . . . . . . . . . . . . 0.1983471 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 121.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34513\x3bdist\x3d35528 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-215 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,255 +. 22 20342594 G A - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution exon GRCh37 20342594 20342594 Chr22(GRCh37):g.20342594G>A 916 916 NR_136560.1:n.916G>A 4 742 3' 81.9947 9.63383 0.98379 XI.06 81.9947 9.63383 0.98379 XI.06 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6312 2104 226 52 456 0 2690 604 180 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 37 Genomes transition G A G>A 0.118 -0.279 201 PASS . . . . . . . . . . . . . . . . 0.16666667 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 30.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d34966\x3bdist\x3d35075 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.26 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20344582 A C - FAM230A 45045 Family with sequence similarity 230 member A NR_136560.1 1 2923 0 substitution intron GRCh37 20344582 20344582 Chr22(GRCh37):g.20344582A>C 2288+83 2288+83 NR_136560.1:n.2288+83A>C p.? p.? 5 5 83 5' 62.777 3.13833 0.139114 1.08533 62.777 3.13833 0.139114 1.08533 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transversion A C A>C 0.000 -0.602 255 PASS . . . . . . . . . . . . . . . . 0.53333336 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 15.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188424 LOC729444 . . . dist\x3d36954\x3bdist\x3d33087 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs589477 rs589477 rs589477 rs589477 1 1538 10 1/0 0,255,255 +rs373844012 22 20367008 A G - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution intron GRCh37 20367008 20367008 Chr22(GRCh37):g.20367008A>G 417+6 417+6 NM_001355479.1:c.417+6T>C p.? p.? 4 4 612340 6 5' 81.3153 8.13727 0.914056 12.0471 75.5367 6.72735 0.863321 10.1048 -0.0999454 rs373844012 no no 0 0.000000 0 transition T C T>C 0.740 0.932 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.0223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16547\x3bdist\x3d10661 dist\x3d59380\x3bdist\x3d10661 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs373844012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs373844012 rs373844012 1 1538 10 1/0 0,254,255 +rs367687070 22 20367024 T G - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution missense exon GRCh37 20367024 20367024 Chr22(GRCh37):g.20367024T>G 407 407 NM_001355479.1:c.407A>C p.Asp136Ala p.Asp136Ala 4 612340 -11 5' 81.3153 8.13727 0.914056 12.0471 81.3153 8.13727 0.914056 XI.75 0 rs367687070 yes no Frequency 1 0.000000 0 transversion A C A>C 0.976 0.770 D Asp GAC 0.539 A Ala GCC 0.403 136 12 1 -2 -2 -3 I.38 0 13 8.I 54 31 126 C0 141.90 0.00 Tolerated 0.89 III.27 187 PASS . . . . . . . . . . . . . . . . 0.13043478 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.018 . @ . . . . . 3 0.007 . . 46.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2731 -1.435 -1.273 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16563\x3bdist\x3d10645 dist\x3d59396\x3bdist\x3d10645 0.000 0.029 . . . . . . . . . 0 . 0.452 . . . . T 0.392 0.017 . . 37 . 0.015 . . 0.356 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . 0.118 . 0.091 . LowAF 1 rs367687070 . . . . . . . . . . . . IV.73 . . . . . 1.000000 . . . . . . 0.052 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -1.847 -1.847000 . . 1.000000 . . 1.0E-187 0.999 0.424 . 0.166 0.024 . 0.453 . 0.023 -1.847 -0.281 . rs3984391 rs3984391 rs3984391 rs367687070 1 1538 10 1/0 0,255,255 +rs371170065 22 20367098 C T - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution synonymous exon GRCh37 20367098 20367098 Chr22(GRCh37):g.20367098C>T 333 333 NM_001355479.1:c.333G>A p.Pro111= p.Pro111Pro 4 612340 29 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.430594 X.35 0 rs371170065 no no 0 0.000000 0 0.000271 0.000000 0.000000 0.000000 0.002144 0.000000 0.000000 0.000000 0.000000 0.002144 6 0 0 0 6 0 0 0 0 22164 1638 4238 594 2798 2640 7726 1898 632 0.500000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 0.000000 0.000000 3 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 68 Exomes transition G A G>A 0.992 -0.279 P Pro CCG 0.115 P Pro CCA 0.274 111 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 26.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16637\x3bdist\x3d10571 dist\x3d59470\x3bdist\x3d10571 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs371170065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0 0 0.0021 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs371170065 rs371170065 1 1538 10 1/0 0,255,255 +rs375445907 22 20367102 C A - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution missense exon GRCh37 20367102 20367102 Chr22(GRCh37):g.20367102C>A 329 329 NM_001355479.1:c.329G>T p.Cys110Phe p.Cys110Phe 4 612340 25 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.430594 X.26 0 rs375445907 no no 0 0.000000 0 transversion G T G>T 1.000 3.111 C Cys TGC 0.552 F Phe TTC 0.546 110 12 11 Zebrafish -2 -2 -4 II.75 0 5.V 5.II 55 132 205 C0 195.00 78.17 Deleterious 0 III.27 243 PASS . . . . . . . . . . . . . . . . 0.29166666 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.265 . @ . . . . . 3 0.104 . . 24.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5022 -0.704 -0.502 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16641\x3bdist\x3d10567 dist\x3d59474\x3bdist\x3d10567 0.010 0.120 . . . . . . . . . 0 . 0.843 . . . . T 0.212 0.008 . . 37 . 0.122 . . 0.029 . . . . 0.428 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . 0.183 . 0.321 . HET 0 rs375445907 . . . . . . . . . . . . V.88 . . . . . 0.000000 . . . . . . 0.213 . . . . . . . . . . . . . . . . . . . . . . 0.133 . 0.151 0.151000 . . 0.000000 . . 1.0E-243 1.000 0.715 . 0.120 0.007 . 0.559 . 0.267 0.151 0.537 . . . rs375445907 rs375445907 1 1538 10 1/0 0,255,255 +. 22 20367107 G A - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution synonymous exon GRCh37 20367107 20367107 Chr22(GRCh37):g.20367107G>A 324 324 NM_001355479.1:c.324C>T p.Ser108= p.Ser108Ser 4 612340 20 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.460382 X.15 0.0230596 0.000710 0.000803 0.000000 0.001493 0.000000 0.000000 0.001566 0.000000 0.000000 0.001566 21 3 0 1 0 0 17 0 0 29582 3734 4512 670 3198 2638 10856 3122 852 0.000406 0.000536 0.000000 0.000000 0.000000 0.000000 0.000921 0.000000 0.000000 6 1 0 0 0 0 5 0 0 9 1 0 1 0 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 0.690 S Ser TCC 0.220 S Ser TCT 0.185 108 255 PASS . . . . . . . . . . . . . . . . 0.36363637 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 22.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.0458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16646\x3bdist\x3d10562 dist\x3d59479\x3bdist\x3d10562 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0009 0 0.0017 0 0 0.0019 0 0 0 0.0003 0 0 0 0 0.0006 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20367111 A G - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution missense exon GRCh37 20367111 20367111 Chr22(GRCh37):g.20367111A>G 320 320 NM_001355479.1:c.320T>C p.Leu107Ser p.Leu107Ser 4 612340 16 3' 75.9841 8.54149 0.430594 11.1815 75.9841 8.54149 0.561341 XI.71 0.101214 0.000090 0.000000 0.000000 0.000000 0.000000 0.000000 0.000259 0.000000 0.000000 0.000259 2 0 0 0 0 0 2 0 0 22258 1638 4238 592 2792 2640 7708 2014 636 0.500000 0.000000 0.000000 0.000000 0.000000 0.000000 0.500000 0.000000 0.000000 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 67 Exomes transition T C T>C 0.992 1.658 L Leu TTG 0.127 S Ser TCG 0.056 107 12 1 -3 -2 -4 0 I.42 4.IX 9.II 111 32 145 C0 173.95 0.00 Tolerated 1 III.27 246 PASS . . . . . . . . . . . . . . . . 0.3043478 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.020 . @ . . . . . 3 0.003 . . 23.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1041 -1.267 -1.104 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16650\x3bdist\x3d10558 dist\x3d59483\x3bdist\x3d10558 0.000 0.048 . . . . . . . . . 0 . 0.843 . . . . D 0.513 0.028 . . 37 . 0.012 . . 0.388 . . . . 0.090 . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . 0.109 . 0.086 . HET 1 . . . . . . . . . . . . . 4.438 . . . . . 1.000000 . . . . . . 0.039 . . . 0 8.986e-05 0 0 0 0 0.0003 0 0 . . . . . . . . . . 0.133 . -1.359 -1.359000 . . 1.000000 . . 1.0E-246 1.000 0.715 . 0.104 0.006 . 0.571 . 0.030 -1.359 -0.599 . rs3984394 rs3984394 rs3984394 rs3984394 1 1538 10 1/0 0,255,255 +. 22 20367134 C T - GGTLC3 33426 Gamma-glutamyltransferase light chain 3 NM_001355479.1 -1 968 678 NP_001342408.1 B5MD39 substitution intron GRCh37 20367134 20367134 Chr22(GRCh37):g.20367134C>T 305-8 305-8 NM_001355479.1:c.305-8G>A p.? p.? 4 3 612340 -8 3' 75.9841 8.54149 0.430594 11.1815 0 2.65204 0.2495 1.42385 -0.70336 New Acceptor Site 20367132 8.38552 0.859109 83.535 0.000135 0.000592 0.000000 0.000000 0.000000 0.000000 0.000184 0.000000 0.000000 0.000592 4 2 0 0 0 0 2 0 0 29582 3378 4492 644 3142 2638 10860 3580 848 0.000135 0.000592 0.000000 0.000000 0.000000 0.000000 0.000184 0.000000 0.000000 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.913 1.093 249 PASS . . . . . . . . . . . . . . . . 0.31578946 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intergenic intergenic . . . @ . . . . . . ENSG00000183038 . . . dist\x3d16673\x3bdist\x3d10535 dist\x3d59506\x3bdist\x3d10535 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.648e-05 0 0 0 0 0.0003 0 0 0.0012 0.0003 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-249 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20378628 T C - TMEM191B 33600 Transmembrane protein 191B NM_001242313.1 1 1334 1041 NP_001229242.1 substitution intron GRCh37 20378628 20378628 Chr22(GRCh37):g.20378628T>C 421-56 421-56 NM_001242313.1:c.421-56T>C p.? p.? 3 2 -56 3' 75.069 4.943 0.388027 1.45715 75.069 4.943 0.388027 0 0 0.000690 0.000000 0.000000 0.000000 0.000000 0.000000 0.000965 0.002252 0.000000 0.002252 3 0 0 0 0 0 2 1 0 4348 1360 112 54 204 0 2072 444 102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 RF 77 Genomes transition T C T>C 0.213 -0.360 111 PASS . . . . . . . . . . . . . . . . 0.5833333 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 12.0 . . INTRON(MODIFIER||||TMEM191B|mRNA|CODING|NM_001242313|) . . . . . . . -0.1586 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intronic intronic . . . @ . . . . . . ENSG00000235704 TMEM191B TMEM191B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0007 0 0 0 0.0023 0.0010 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 10 1/0 30,3,0 +. 22 20389182 A G - PI4KAP1 33576 Phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NR_003563.1 -1 2360 0 substitution exon GRCh37 20389182 20389182 Chr22(GRCh37):g.20389182A>G 915 915 NR_003563.1:n.915T>C 9 23 3' 77.8346 10.0964 0.914603 9.99048 77.8346 10.0964 0.914603 9.91998 0 transition T C T>C 0.165 -2.700 255 PASS . . . . . . . . . . . . . . . . 0.7083333 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 24.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S305|PI4KAP1|Non-coding_transcript|NON_CODING|NR_003563|NR_003563.ex.9) . . . . . . . -0.7093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.45 0.35 182 ENSG00000215513 PI4KAP1 PI4KAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs409789 rs409789 rs409789 rs409789 1 1538 10 1/0 0,255,255 +. 22 20397145 TTCTTA T - PI4KAP1 33576 Phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NR_003563.1 -1 2360 0 deletion exon GRCh37 20397146 20397150 Chr22(GRCh37):g.20397146_20397150del 510 514 NR_003563.1:n.510_514del 4 -34 5' 81.5254 8.66175 0.970788 IV.57 81.5254 8.66175 0.970788 IV.71 0 TAAGA 255 Pass . . . . . . . . . . . . . . . . 0.41538462 . . . 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 65 . . FRAME_SHIFT(HIGH||||PI4KAP1|Non-coding_transcript|NON_CODING|NR_003563|NR_003563.ex.4) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . . . . . . . . ENSG00000215513 . PI4KAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,38 +rs2629362 22 20397853 C T - PI4KAP1 33576 Phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NR_003563.1 -1 2360 0 substitution intron GRCh37 20397853 20397853 Chr22(GRCh37):g.20397853C>T 419+25 419+25 NR_003563.1:n.419+25G>A p.? p.? 3 3 25 5' 71.0434 7.04051 0.921478 4.48168 71.0434 7.04051 0.921478 4.21364 0 New Acceptor Site 20397851 1.00734 0.009229 74.0661 rs2629362 no no 0 0.000000 0 0.000084 0.000000 0.000000 0.000000 0.001845 0.000000 0.000000 0.000000 0.000000 0.001845 1 0 0 0 1 0 0 0 0 11934 3442 370 144 542 0 5856 1220 360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 32 Genomes transition G A G>A 0.000 -1.328 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 14.0 . . INTRON(MODIFIER||||PI4KAP1|Non-coding_transcript|NON_CODING|NR_003563|) . . . . . . . -0.8527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.33 0.25 182 ENSG00000215513 PI4KAP1 PI4KAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs2629362 0.326 0.362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.379e-05 0 0 0.0018 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.33 rs2629362 rs2629362 rs2629362 rs2629362 1 1538 255 1.I 0,0,255 +. 22 20398679 C T - PI4KAP1 33576 Phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 NR_003563.1 -1 2360 0 substitution exon GRCh37 20398679 20398679 Chr22(GRCh37):g.20398679C>T 17 17 NR_003563.1:n.17G>A 1 -143 5' 72.849 9.08256 0.97931 11.0675 72.849 9.08256 0.97931 11.0675 0 0.000205 0.000000 0.007353 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.007353 1 0 1 0 0 0 0 0 0 4876 1650 136 54 168 0 2488 268 112 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 33 Genomes transition G A G>A 1.000 2.142 255 PASS . . . . . . . . . . . . . . . . 0.5116279 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 43.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G6D|PI4KAP1|Non-coding_transcript|NON_CODING|NR_003563|NR_003563.ex.1) . . . . . . . 0.6598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000215513 PI4KAP1 PI4KAP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0074 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs455312 rs455312 rs455312 rs455312 1 1538 10 1/0 0,255,255 +. 22 20456427 C A - RIMBP3 29344 RIMS binding protein 3 NM_015672.1 -1 5796 4920 NP_056487.1 substitution synonymous exon GRCh37 20456427 20456427 Chr22(GRCh37):g.20456427C>A 4875 4875 NM_015672.1:c.4875G>T p.Leu1625= p.Leu1625Leu 1 612699 Variant SH3 Src homology-3 domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7748 722 1784 220 1046 1156 2510 94 216 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 61 Exomes transversion G T G>T 0.992 0.528 L Leu CTG 0.404 L Leu CTT 0.129 1625 247 PASS . . . . . . . . . . . ENSG00000196622:ENST00000426804:exon1:c.G4875T:p.L1625L RIMBP3:uc002zsd.4:exon1:c.G4875T:p.L1625L RIMBP3:NM_015672:exon1:c.G4875T:p.L1625L . . 0.3125 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 16.0 . . SYNONYMOUS_CODING(LOW|SILENT|ctG/ctT|L1625|RIMBP3|mRNA|CODING|NM_015672|NM_015672.ex.1) . . . . . . . 0.3922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196622 RIMBP3 RIMBP3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20460112 TCCG T - RIMBP3 29344 RIMS binding protein 3 NM_015672.1 -1 5796 4920 NP_056487.1 deletion in-frame exon GRCh37 20460113 20460115 Chr22(GRCh37):g.20460113_20460115del 1187 1189 NM_015672.1:c.1187_1189del p.Ala396del p.Ala396del 1 612699 0.000009 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000394 0.000000 1 0 0 0 0 0 0 0 1 109846 13086 13940 4892 7050 13844 47104 7392 2538 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes CGG 255 Pass . . . . . . . . . . . ENSG00000196622:ENST00000426804:exon1:c.1187_1189del:p.396_397del RIMBP3:uc002zsd.4:exon1:c.1187_1189del:p.396_397del RIMBP3:NM_015672:exon1:c.1187_1189del:p.396_397del . . 0.875 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 16 . . CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||gcggag/gag|AE396E|RIMBP3|mRNA|CODING|NM_015672|NM_015672.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000196622 RIMBP3 RIMBP3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.014e-05 0 0 0 0 0 0.0004 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,6 +rs5742579 (chr22:20610628 C/T) 22 20610628 C T Not on a known gene +. (chr22:20611156 C/T) 22 20611156 C T Not on a known gene +rs377383727 (chr22:20611164 C/T) 22 20611164 C T Not on a known gene +. (chr22:20615308 C/T) 22 20615308 C T Not on a known gene +. (chr22:20615435 G/A) 22 20615435 G A Not on a known gene +. (chr22:20615458 T/C) 22 20615458 T C Not on a known gene +. (chr22:20615462 C/T) 22 20615462 C T Not on a known gene +. (chr22:20615467 G/T) 22 20615467 G T Not on a known gene +. (chr22:20615471 G/A) 22 20615471 G A Not on a known gene +. (chr22:20615545 A/C) 22 20615545 A C Not on a known gene +. (chr22:20615561 T/C) 22 20615561 T C Not on a known gene +. (chr22:20615594 T/C) 22 20615594 T C Not on a known gene +. 22 20638004 T G - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution exon GRCh37 20638004 20638004 Chr22(GRCh37):g.20638004T>G 630 630 NR_136569.1:n.630A>C 8 156 3' 90.7446 8.98709 0.574351 9.94995 90.7446 8.98709 0.574351 9.94995 0 transversion A C A>C 0.000 -0.763 255 PASS . . . . . . . . . . . . . . . . 0.47368422 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 19.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000223579 AK129567 . . . dist\x3d176218\x3bdist\x3d110401 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs589477 rs589477 rs589477 rs589477 1 1538 10 1/0 0,255,255 +. 22 20638878 C T - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20638878 20638878 Chr22(GRCh37):g.20638878C>T 475-719 475-719 NR_136569.1:n.475-719G>A p.? p.? 8 7 -719 3' 90.7446 8.98709 0.574351 9.94995 90.7446 8.98709 0.574351 9.94995 0 0.003119 0.008897 0.000000 0.000000 0.000000 0.000000 0.001854 0.000000 0.006757 0.008897 15 10 0 0 0 0 4 0 1 4810 1124 252 44 162 0 2158 922 148 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 10 0 0 0 0 4 0 1 0 0 0 0 0 0 0 0 0 RF 47 Genomes transition G A G>A 0.331 2.142 186 PASS . . . . . . . . . . . . . . . . 0.12676056 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 71.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223579 AK129567 . . . dist\x3d177092\x3bdist\x3d109527 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0089 0.0031 0 0 0 0 0.0019 0.0068 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . rs5747719 rs5747719 rs5747719 rs5747719 1 1538 10 1/0 0,243,255 +. 22 20640320 C T - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640320 20640320 Chr22(GRCh37):g.20640320C>T 475-2161 475-2161 NR_136569.1:n.475-2161G>A p.? p.? 8 7 -2161 3' 90.7446 8.98709 0.574351 9.94995 90.7446 8.98709 0.574351 9.94995 0 0.000649 0.000000 0.000000 0.000000 0.000000 0.000000 0.000880 0.000447 0.003802 0.000880 11 0 0 0 0 0 8 1 2 16942 3750 502 194 646 0 9086 2238 526 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 8 1 2 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition G A G>A 0.346 0.609 181 PASS . . . . . . . . . . . . . . . . 0.11627907 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 86.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000223579 AK129567 . . . dist\x3d178534\x3bdist\x3d108085 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0 0 0 0.0004 0.0009 0.0038 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . rs619718 . . . 1 1538 10 1/0 0,234,255 +. 22 20640793 T C - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640793 20640793 Chr22(GRCh37):g.20640793T>C 474+2432 474+2432 NR_136569.1:n.474+2432A>G p.? p.? 7 7 2432 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 0.000065 0.000263 0.000092 0.000000 0.000105 0.000103 0.000000 0.000000 0.000251 0.000263 9 3 2 0 1 2 0 0 1 139308 11424 21848 7266 9510 19428 57386 8454 3992 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 3 2 0 1 2 0 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.126 1.335 175 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.A584G:p.N195S . . . 0.103896104 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 77.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . . . . ENSG00000223579 AK302545 . . . dist\x3d179007\x3bdist\x3d107612 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.125e-05 9.471e-05 0 0.0001 0 0 0.0003 0.0001 0.0003 7.994e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +rs62220057 22 20640804 C G - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640804 20640804 Chr22(GRCh37):g.20640804C>G 474+2421 474+2421 NR_136569.1:n.474+2421G>C p.? p.? 7 7 2421 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 rs62220057 no no 0 C 0.000000 0 0.000007 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 1 0 0 0 0 0 1 0 0 134078 10170 21258 7162 9364 19144 55060 8054 3866 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G C G>C 0.039 -0.117 188 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.G573C:p.Q191H . . . 0.13043478 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 92.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.31 0.19 182 ENSG00000223579 AK302545 . . . dist\x3d179018\x3bdist\x3d107601 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs62220057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 8.9e-06 0 0 0 0 2.273e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs62220057 rs62220057 rs1309194 rs1309194 1 1538 10 1/0 0,232,255 +rs62220662 22 20640847 C T - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640847 20640847 Chr22(GRCh37):g.20640847C>T 474+2378 474+2378 NR_136569.1:n.474+2378G>A p.? p.? 7 7 2378 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 rs62220662 no no 0 C 0.000000 0 0.000347 0.001116 0.000791 0.000000 0.000183 0.000299 0.000205 0.000000 0.000787 0.001116 31 7 9 0 1 4 8 0 2 89228 6272 11372 5294 5466 13362 38952 5970 2540 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 7 9 0 1 4 8 0 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.974 198 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.G530A:p.S177N . . . 0.15555556 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 90.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.31 0.2 182 ENSG00000223579 AK302545 . . . dist\x3d179061\x3bdist\x3d107558 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0004 0.0008 0 0.0002 0 0.0002 0.0010 0.0003 0.0009 0.0003 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . rs62220662 rs62220662 rs62220662 rs62220662 1 1538 10 1/0 0,235,255 +rs62220663 22 20640855 T G - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640855 20640855 Chr22(GRCh37):g.20640855T>G 474+2370 474+2370 NR_136569.1:n.474+2370A>C p.? p.? 7 7 2370 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 Cryptic Acceptor Strongly Activated 20640846 0.001585 60.8569 0.265756 0.008107 63.7924 rs62220663 no no 0 T 0.000000 0 0.002772 0.003817 0.005032 0.001587 0.004009 0.002440 0.002303 0.000925 0.002258 0.005032 223 22 53 7 22 28 81 5 5 80460 5764 10532 4410 5488 11476 35168 5408 2214 0.000050 0.000347 0.000190 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 2 1 1 0 0 0 0 0 0 219 20 51 7 22 28 81 5 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.004 -2.458 211 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.A522C:p.G174G . . . 0.1875 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 112.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.32 0.24 182 ENSG00000223579 AK302545 . . . dist\x3d179069\x3bdist\x3d107550 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs62220663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0026 0.0052 0.0014 0.0039 0.0006 0.0020 0.0028 0.0024 0.0046 0.0035 0 0.0094 0.0045 0.0016 0.0039 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . rs62220663 rs62220663 rs62220663 rs62220663 1 1538 10 1/0 0,229,255 +rs62220664 22 20640858 G C - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20640858 20640858 Chr22(GRCh37):g.20640858G>C 474+2367 474+2367 NR_136569.1:n.474+2367C>G p.? p.? 7 7 2367 5' 79.3529 8.77984 0.976494 1.79931 79.3529 8.77984 0.976494 1.79931 0 rs62220664 no no 0 G 0.000000 0 0.000196 0.000996 0.000131 0.000200 0.000134 0.000301 0.000091 0.000000 0.000000 0.000996 20 8 2 1 1 4 4 0 0 102266 8030 15266 5010 7478 13288 43736 6526 2932 0.000059 0.000249 0.000131 0.000000 0.000000 0.000151 0.000000 0.000000 0.000000 3 1 1 0 0 1 0 0 0 14 6 0 1 1 2 4 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.012 -0.279 198 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon8:c.C519G:p.H173Q . . . 0.15447155 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 123.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4600 . . . . . . . . . . . . 0 0.0003 0 0 0 0 0 0.0004 0 0.0003 0 0 0 0 0 0.0004 . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.33 0.24 182 ENSG00000223579 AK302545 . . . dist\x3d179072\x3bdist\x3d107547 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs62220664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0.0001 0.0002 0.0002 0 9.065e-05 0 0.0003 0.0012 0.0003 0 0 0 0 9.397e-05 0 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . rs62220664 rs62220664 rs62220664 rs62220664 1 1538 10 1/0 0,222,255 +rs199846825 22 20654275 A G - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution intron GRCh37 20654275 20654275 Chr22(GRCh37):g.20654275A>G 200+7 200+7 NR_136569.1:n.200+7T>C p.? p.? 2 2 7 5' 82.523 9.06409 0.863058 4.94071 82.523 9.06409 0.961927 V.03 0.0381855 rs199846825 no no 0 A 0.000000 0 transition T C T>C 0.008 0.367 186 PASS . . . . . . . . . . . . . . . . 0.12643678 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic intergenic . . . @ . . . 0.46 0.26 182 ENSG00000223579 AK129567 . . . dist\x3d192489\x3bdist\x3d94130 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs199846825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs199846825 rs199846825 1 1538 10 1/0 0,234,255 +rs200984691 22 20654302 T C - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution exon GRCh37 20654302 20654302 Chr22(GRCh37):g.20654302T>C 180 180 NR_136569.1:n.180A>G 2 -21 5' 82.523 9.06409 0.863058 4.94071 82.523 9.06409 0.863058 4.64841 0 rs200984691 no no 0 T 0.000000 0 transition A G A>G 0.031 0.367 183 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon2:c.A67G:p.K23E . . . 0.119266056 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 109.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3599 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.63 0.37 182 ENSG00000223579 AK302545 . . . dist\x3d192516\x3bdist\x3d94103 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs200984691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs200984691 rs200984691 1 1538 10 1/0 0,224,255 +rs201820851 22 20654326 G A - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution exon GRCh37 20654326 20654326 Chr22(GRCh37):g.20654326G>A 156 156 NR_136569.1:n.156C>T 2 15 3' 75.1366 X.55 0.863897 5.64079 75.1366 X.55 0.8504 5.43474 -0.0052078 rs201820851 no no 0 G 0.000000 0 transition C T C>T 0.008 0.448 177 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon2:c.C43T:p.P15S . . . 0.106796116 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 103.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.63 0.29 182 ENSG00000223579 AK302545 . . . dist\x3d192540\x3bdist\x3d94079 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs201820851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . . . . rs201820851 rs201820851 1 1538 10 1/0 0,225,255 +rs200034275 22 20654327 C A - LINC01660 52448 Long intergenic non-protein coding RNA 1660 NR_136569.1 -1 1859 0 substitution exon GRCh37 20654327 20654327 Chr22(GRCh37):g.20654327C>A 155 155 NR_136569.1:n.155G>T 2 14 3' 75.1366 X.55 0.863897 5.64079 75.1366 X.55 0.870515 5.71284 0.00255355 New Acceptor Site 20654314 0.307492 6,00E-06 66.1191 rs200034275 no no 0 C 0.000000 0 transversion G T G>T 0.008 0.448 182 PASS . . . . . . . . . . . . AK302545:uc011aho.1:exon2:c.G42T:p.K14N . . . 0.11818182 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 110.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.63 0.3 182 ENSG00000223579 AK302545 . . . dist\x3d192541\x3bdist\x3d94078 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs200034275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . rs200034275 rs200034275 1 1538 10 1/0 0,224,255 +. (chr22:20689192 T/C) 22 20689192 T C Not on a known gene +. (chr22:20689207 G/C) 22 20689207 G C Not on a known gene +. (chr22:20689212 C/T) 22 20689212 C T Not on a known gene +. (chr22:20689225 T/G) 22 20689225 T G Not on a known gene +. (chr22:20689232 A/G) 22 20689232 A G Not on a known gene +. (chr22:20689233 T/C) 22 20689233 T C Not on a known gene +. (chr22:20689242 A/T) 22 20689242 A T Not on a known gene +. (chr22:20689243 G/A) 22 20689243 G A Not on a known gene +. (chr22:20689250 A/G) 22 20689250 A G Not on a known gene +. (chr22:20689258 G/C) 22 20689258 G C Not on a known gene +. (chr22:20689259 A/C) 22 20689259 A C Not on a known gene +. (chr22:20689260 G/A) 22 20689260 G A Not on a known gene +. (chr22:20689265 T/G) 22 20689265 T G Not on a known gene +. (chr22:20689271 C/A) 22 20689271 C A Not on a known gene +. (chr22:20689282 C/T) 22 20689282 C T Not on a known gene +. (chr22:20689294 T/G) 22 20689294 T G Not on a known gene +. (chr22:20689298 G/C) 22 20689298 G C Not on a known gene +. (chr22:20689307 T/C) 22 20689307 T C Not on a known gene +. (chr22:20689323 G/T) 22 20689323 G T Not on a known gene +. (chr22:20689329 A/T) 22 20689329 A T Not on a known gene +. (chr22:20689332 C/G) 22 20689332 C G Not on a known gene +. (chr22:20689340 G/A) 22 20689340 G A Not on a known gene +. (chr22:20689354 G/T) 22 20689354 G T Not on a known gene +. (chr22:20689365 T/A) 22 20689365 T A Not on a known gene +rs627793 22 20706397 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20706397 20706397 Chr22(GRCh37):g.20706397A>G *3-1176 *3-1176 ENST00000454608.2:c.*3-1176T>C p.? p.? 13 12 -1176 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs627793 yes no Frequency 1 T 0.000000 0 0.000038 0.000135 0.000000 0.000000 0.000088 0.000000 0.000047 0.000000 0.000000 0.000135 6 2 0 0 1 0 3 0 0 159124 14842 24172 8064 11412 22080 63972 10058 4524 0.000013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000031 0.000000 0.000000 1 0 0 0 0 0 1 0 0 4 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.086 183 PASS . . . . . . . . . . . . . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.34 0.32 182 ENSG00000188280 JX456220 . . . dist\x3d244611\x3bdist\x3d42008 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs627793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.326e-05 0 0 0.0001 0 4.034e-05 0 0 0.0002 9.944e-05 0 0 0 0 6.946e-05 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . rs112158581 rs112158581 1 1538 10 1/0 0,255,255 +. 22 20706410 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20706410 20706410 Chr22(GRCh37):g.20706410G>A *3-1189 *3-1189 ENST00000454608.2:c.*3-1189C>T p.? p.? 13 12 -1189 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 transition C T C>T 0.012 0.690 198 PASS . . . . . . . . . . . ENSG00000188280:ENST00000583722:exon3:c.G114A:p.K38K . . . . 0.15686275 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 51.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d244624\x3bdist\x3d41995 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs12172268 22 20708966 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20708966 20708966 Chr22(GRCh37):g.20708966T>A *3-3745 *3-3745 ENST00000454608.2:c.*3-3745A>T p.? p.? 13 12 -3745 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20708956 0.049029 58.6615 2.23175 0.444211 64.6502 rs12172268 no no 0 A 0.000000 0 0.005877 0.009231 0.018125 0.001364 0.016489 0.006324 0.003725 0.001233 0.005602 0.018125 273 48 58 3 34 33 83 6 8 46454 5200 3200 2200 2062 5218 22280 4866 1428 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 273 48 58 3 34 33 83 6 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -1.409 255 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.T698A:p.V233D . . . . 0.375 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 64.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . 0.21 0.24 182 ENSG00000188280 JX456220 . . . dist\x3d247180\x3bdist\x3d39439 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs12172268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0195 0.0071 0.0216 0.0015 0.0285 0.0004 0.0032 0.0078 0.0063 0.0062 0.0042 0.0018 0 0.0021 0.0019 0.0044 0.0030 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs12172268 rs12172268 rs12172268 rs12172268 1 1538 10 1/0 0,255,255 +rs773406070 22 20709140 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709140 20709140 Chr22(GRCh37):g.20709140A>G *3-3919 *3-3919 ENST00000454608.2:c.*3-3919T>C p.? p.? 13 12 -3919 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs773406070 yes no Frequency 1 0.000000 0 0.000029 0.000000 0.000067 0.000000 0.000000 0.000000 0.000049 0.000000 0.000000 0.000067 3 0 1 0 0 0 2 0 0 102776 6934 14882 6786 6376 17468 40738 6818 2774 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -2.861 201 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A872G:p.D291G . . . . 0.16393442 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 61.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247354\x3bdist\x3d39265 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 2.26e-05 6.905e-05 0 0 0 3.008e-05 0 0 0 7.004e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,253,255 +rs767673251 22 20709147 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709147 20709147 Chr22(GRCh37):g.20709147A>G *3-3926 *3-3926 ENST00000454608.2:c.*3-3926T>C p.? p.? 13 12 -3926 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs767673251 no no 0 0.000000 0 0.000208 0.000000 0.000202 0.000369 0.000000 0.000072 0.000298 0.000209 0.000000 0.000369 13 0 2 2 0 1 7 1 0 62632 1282 9900 5418 2170 13858 23512 4778 1714 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 2 2 0 1 7 1 0 0 0 0 0 0 0 0 0 0 RF 63 Exomes transition T C T>C 0.000 0.286 133 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A879G:p.A293A . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.0801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247361\x3bdist\x3d39258 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs767673251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0002 0.0004 0 0.0002 0.0003 0 7.216e-05 . . . . . . . . . . . . . . . . . . . 1.0E-133 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +rs12172514 22 20709242 C T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709242 20709242 Chr22(GRCh37):g.20709242C>T *3-4021 *3-4021 ENST00000454608.2:c.*3-4021G>A p.? p.? 13 12 -4021 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs12172514 yes no Frequency/1000G 2 0.000000 0 0.303115 0.251100 0.357900 0.174600 0.469200 0.270900 0.000201 0.000177 0.000000 0.000000 0.000000 0.000000 0.000347 0.000000 0.000000 0.000347 3 1 0 0 0 0 2 0 0 14904 5664 436 156 1098 0 5756 1408 386 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 57 Genomes transition G A G>A 0.913 0.609 216 PASS 0.02 0.03 0.03 0.03 0.05 0.25 0.3 0.27 0.17 0.47 0.36 ENSG00000188280:ENST00000434783:exon8:c.C974T:p.A325V . . . . 0.18055555 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 72.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . 0.3031 . . . 0.2 0.22 182 ENSG00000188280 JX456220 . . . dist\x3d247456\x3bdist\x3d39163 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs12172514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . 0.05 rs12172514 rs12172514 rs12172514 rs12172514 1 1538 10 1/0 0,255,255 +. 22 20709265 C G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709265 20709265 Chr22(GRCh37):g.20709265C>G *3-4044 *3-4044 ENST00000454608.2:c.*3-4044G>C p.? p.? 13 12 -4044 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20709253 2.92561 0.518614 64.8841 4.53535 0.73325 67.4216 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15484 4924 502 176 1056 0 6706 1690 430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 50 Genomes transversion G C G>C 0.000 -1.974 211 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.C997G:p.P333A . . . . 0.18333334 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247479\x3bdist\x3d39140 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-211 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs776575658 22 20709277 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709277 20709277 Chr22(GRCh37):g.20709277G>A *3-4056 *3-4056 ENST00000454608.2:c.*3-4056C>T p.? p.? 13 12 -4056 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs776575658 yes no Frequency 1 0.000000 0 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000322 0.000000 0.000322 1 0 0 0 0 0 0 1 0 37038 7776 2726 936 2882 1884 16760 3110 964 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -1.974 179 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1009A:p.V337I . . . . 0.11111111 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 63.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6585 . . . . . . . . 8.356e-05 . . . 0.0031 0.0005 0 0 0 0 0 0 . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247491\x3bdist\x3d39128 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs776575658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 4.93e-05 0 0 0 0.0005 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. 22 20709346 C G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709346 20709346 Chr22(GRCh37):g.20709346C>G *3-4125 *3-4125 ENST00000454608.2:c.*3-4125G>C p.? p.? 13 12 -4125 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20709334 2.92561 0.531802 64.8841 4.53535 0.734736 67.4216 rs894880099 no no 0 0.000000 0 0.000115 0.000000 0.000660 0.000000 0.000000 0.000000 0.000111 0.000000 0.001035 0.000660 4 0 1 0 0 0 2 0 1 34644 6490 1516 942 1652 1070 17954 4054 966 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 1 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -3.669 136 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.C1078G:p.P360A . . . . 0.14285715 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.1229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247560\x3bdist\x3d39059 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 7.118e-05 0 0 0 0 0 0.0032 0 0 0.0001 0.0017 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-136 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +. 22 20709358 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709358 20709358 Chr22(GRCh37):g.20709358G>A *3-4137 *3-4137 ENST00000454608.2:c.*3-4137C>T p.? p.? 13 12 -4137 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs1013310955 no no 0 0.000000 0 transition C T C>T 0.000 -1.732 216 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1090A:p.V364I . . . . 0.25252524 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247572\x3bdist\x3d39047 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-216 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,241,255 +rs547818483 22 20709373 C G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709373 20709373 Chr22(GRCh37):g.20709373C>G *3-4152 *3-4152 ENST00000454608.2:c.*3-4152G>C p.? p.? 13 12 -4152 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20709361 0.120875 61.9718 1.23776 0.322719 64.6502 rs547818483 yes no Frequency/1000G 2 0.000000 0 0.002196 0.003000 0.000000 0.002000 0.003000 0.002900 0.000275 0.000898 0.000660 0.000000 0.000000 0.000817 0.000116 0.000000 0.000000 0.000898 9 5 1 0 0 1 2 0 0 32744 5566 1516 1046 1436 1224 17212 3810 934 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 5 1 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -2.216 200 PASS . . . . . 0.003 0.0022 0.0029 0.002 0.003 . ENSG00000188280:ENST00000434783:exon8:c.C1105G:p.P369A . . . . 0.28282827 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 99.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . 0.0022 . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247587\x3bdist\x3d39032 . . . 5 7.69515e-05 64976 3 5.00117e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs547818483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0018 0.0002 0.0011 0 0 0 0 0 0.0008 0.0008 0.0003 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs568718183 22 20709385 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20709385 20709385 Chr22(GRCh37):g.20709385G>A *3-4164 *3-4164 ENST00000454608.2:c.*3-4164C>T p.? p.? 13 12 -4164 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs568718183 yes no Frequency/1000G 2 0.000998 A 5 0.000998 0.002300 0.000000 0.000000 0.000000 0.002900 0.000048 0.000125 0.000000 0.000988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000988 2 1 0 1 0 0 0 0 0 41266 7994 1774 1012 1982 1208 21288 4778 1230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 0.448 250 PASS . . . . . 0.0023 0.001 0.0029 . . . ENSG00000188280:ENST00000434783:exon8:c.G1117A:p.V373I . . . . 0.30327868 . . @ 37 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 122.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_intronic intergenic . . . 0.0010 . . . . . . ENSG00000188280 JX456220 . . . dist\x3d247599\x3bdist\x3d39020 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs568718183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 6.822e-05 0 0.0014 0 0 0 0 0 0.0001 3.758e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,237,255 +. 22 20710076 G T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710076 20710076 Chr22(GRCh37):g.20710076G>T *3-4855 *3-4855 ENST00000454608.2:c.*3-4855C>A p.? p.? 13 12 -4855 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 transversion C A C>A 0.000 -0.602 187 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1808T:p.R603M . . . . 0.12765957 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 94.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248290\x3bdist\x3d38329 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,231,255 +rs576647081 22 20710078 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710078 20710078 Chr22(GRCh37):g.20710078T>A *3-4857 *3-4857 ENST00000454608.2:c.*3-4857A>T p.? p.? 13 12 -4857 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 Cryptic Acceptor Strongly Activated 20710068 0.024212 58.6615 2.23175 0.307546 64.6502 rs576647081 yes no Frequency/1000G 2 0.004992 A 25 0.004992 0.014400 0.000000 0.003000 0.001000 0.002900 0.005156 0.018868 0.004167 0.000000 0.000000 0.010989 0.001802 0.000379 0.001667 0.018868 110 82 3 0 0 2 21 1 1 21336 4346 720 352 846 182 11652 2638 600 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 110 82 3 0 0 2 21 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 -0.198 226 PASS . . . . . 0.014 0.005 0.0029 0.003 0.001 . ENSG00000188280:ENST00000434783:exon8:c.T1810A:p.S604T . . . . 0.23076923 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 78.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6054 . . . . . . . . 1.079e-03 . . . 0.0279 0.0073 0.0116 0 0 0 0 0 0.0469 0.0034 0.02 0 0 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . 0.0050 . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248292\x3bdist\x3d38327 . . . 23 0.000353977 64976 4 6.66822e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs576647081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0272 0.0022 0.0135 0 0 0 0.0004 0 0.0110 0.0181 0.0068 0 0 0 0.0006 0.0030 0.0022 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,248,255 +rs796181095 22 20710084 C T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710084 20710084 Chr22(GRCh37):g.20710084C>T *3-4863 *3-4863 ENST00000454608.2:c.*3-4863G>A p.? p.? 13 12 -4863 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs796181095 no no 0 0.000000 0 0.000086 0.000246 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 0.000246 3 2 0 0 0 0 1 0 0 34954 8116 1326 470 1568 372 17994 4096 1012 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.047 0.125 205 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.C1816T:p.P606S . . . . 0.1724138 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 87.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248298\x3bdist\x3d38321 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0003 0.0001 0 0 0 0 7.949e-05 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,238,255 +. 22 20710111 C T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710111 20710111 Chr22(GRCh37):g.20710111C>T *3-4890 *3-4890 ENST00000454608.2:c.*3-4890G>A p.? p.? 13 12 -4890 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000061 0.000128 0.000000 0.000000 0.000000 0.000000 0.000060 0.000000 0.000000 0.000128 2 1 0 0 0 0 1 0 0 32702 7810 1286 436 1452 352 16696 3702 968 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.051 -1.893 196 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.C1843T:p.P615S . . . . 0.15053764 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 93.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248325\x3bdist\x3d38294 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0001 8.048e-05 0 0 0 0 8.522e-05 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,234,255 +. 22 20710128 G T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710128 20710128 Chr22(GRCh37):g.20710128G>T *3-4907 *3-4907 ENST00000454608.2:c.*3-4907C>A p.? p.? 13 12 -4907 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 transversion C A C>A 0.035 0.851 205 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1860T:p.T620T . . . . 0.17333333 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 75.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.1663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248342\x3bdist\x3d38277 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +. 22 20710129 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710129 20710129 Chr22(GRCh37):g.20710129A>G *3-4908 *3-4908 ENST00000454608.2:c.*3-4908T>C p.? p.? 13 12 -4908 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 transition T C T>C 0.016 0.528 201 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A1861G:p.R621G . . . . 0.16216215 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 74.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248343\x3bdist\x3d38276 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-201 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +. 22 20710169 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710169 20710169 Chr22(GRCh37):g.20710169G>C *3-4948 *3-4948 ENST00000454608.2:c.*3-4948C>G p.? p.? 13 12 -4948 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000522 0.001197 0.000000 0.000000 0.000000 0.000000 0.000353 0.000000 0.000000 0.001197 12 8 0 0 0 0 4 0 0 22980 6684 596 228 1190 0 11344 2256 682 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 8 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transversion C G C>G 0.150 1.900 222 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1901C:p.R634T . . . . 0.22105263 . . @ 21 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 95.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248383\x3bdist\x3d38236 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0005 0 0 0 0 0.0004 0 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +. 22 20710173 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710173 20710173 Chr22(GRCh37):g.20710173G>A *3-4952 *3-4952 ENST00000454608.2:c.*3-4952C>T p.? p.? 13 12 -4952 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000246 0.000558 0.001458 0.000000 0.000000 0.000000 0.000075 0.000365 0.000000 0.001458 6 3 1 0 0 0 1 1 0 24390 5376 686 386 1080 166 13322 2742 632 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.682 156 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1905A:p.A635A . . . . 0.11904762 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248387\x3bdist\x3d38232 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0.0056 0 0 0 0 0 0 0.0006 0.0003 0 0 0 0.0006 0.0001 0 . . . . . . . . . . . 1.0E-156 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,236,255 +rs200547211 22 20710196 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710196 20710196 Chr22(GRCh37):g.20710196G>C *3-4975 *3-4975 ENST00000454608.2:c.*3-4975C>G p.? p.? 13 12 -4975 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs200547211 yes no Frequency 1 0.000000 0 0.000342 0.000405 0.000658 0.000000 0.000000 0.000000 0.000373 0.000286 0.000000 0.000658 11 3 1 0 0 0 6 1 0 32132 7410 1520 460 1602 652 16082 3492 914 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 3 1 0 0 0 6 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 0.286 224 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1928C:p.R643T . . . . 0.22222222 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 90.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . 0.22 0.22 182 ENSG00000188280 JX456220 . . . dist\x3d248410\x3bdist\x3d38209 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs200547211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0009 0.0012 0 0 0 0.0011 0 0 0.0003 0.0001 0 0 0 0.0004 0 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs200547211 rs200547211 1 1538 10 1/0 0,243,255 +rs569075092 22 20710227 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710227 20710227 Chr22(GRCh37):g.20710227G>A *3-5006 *3-5006 ENST00000454608.2:c.*3-5006C>T p.? p.? 13 12 -5006 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs569075092 no no 0 0.000000 0 0.000102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000129 0.000000 0.001168 0.000129 3 0 0 0 0 0 2 0 1 29378 6144 1014 494 1206 414 15502 3748 856 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.037 180 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1959A:p.A653A . . . . 0.114583336 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 96.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248441\x3bdist\x3d38178 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs569075092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.879e-05 0 0 0 0 0 0.0043 0 0 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-180 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs779988346 22 20710246 T C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710246 20710246 Chr22(GRCh37):g.20710246T>C *3-5025 *3-5025 ENST00000454608.2:c.*3-5025A>G p.? p.? 13 12 -5025 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs779988346 yes no Frequency 1 0.000000 0 0.000183 0.000409 0.000000 0.000000 0.000000 0.000723 0.000158 0.000000 0.000000 0.000723 7 3 0 0 0 1 3 0 0 38202 7328 2530 712 1800 1384 18944 4384 1120 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.602 199 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.T1978C:p.S660P . . . . 0.15625 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 96.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6874 . . . . . . . . 1.209e-04 . . . . . . . . . . . 0 0.0005 0 0 0.0007 0 0 0 nonsynonymous_SNV . . . . . exonic ncRNA_exonic intergenic . . . @ . . . . . . ENSG00000188280 JX456220 . . . dist\x3d248460\x3bdist\x3d38159 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . rs779988346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0001 0 0.0007 0.0005 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,233,255 +rs753738386 22 20710254 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710254 20710254 Chr22(GRCh37):g.20710254G>A *3-5033 *3-5033 ENST00000454608.2:c.*3-5033C>T p.? p.? 13 12 -5033 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs753738386 yes no Frequency 1 0.000000 0 0.000505 0.000630 0.000000 0.000000 0.000000 0.000000 0.000555 0.000863 0.000000 0.000863 20 5 0 0 0 0 11 4 0 39566 7942 2358 728 1696 1206 19804 4634 1198 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 5 0 0 0 0 11 4 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -2.297 176 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G1986A:p.A662A . . . . 0.10619469 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7286 . . . . . . . . 5.721e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 synonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . . . dist\x3d248468\x3bdist\x3d38151 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs753738386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0007 0.0008 0 0 0 0.0014 0.0010 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,221,255 +. 22 20710684 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710684 20710684 Chr22(GRCh37):g.20710684A>G *3-5463 *3-5463 ENST00000454608.2:c.*3-5463T>C p.? p.? 13 12 -5463 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000282 0.000453 0.000452 0.000461 0.000795 0.000517 0.000068 0.000000 0.000541 0.000795 19 2 4 2 2 6 2 0 1 67426 4416 8846 4340 2516 11596 29270 4594 1848 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 19 2 4 2 2 6 2 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.844 222 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A2416G:p.T806A . . . . 0.22580644 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 31.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . . . dist\x3d248898\x3bdist\x3d37721 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0003 0.0005 0.0005 0.0010 0 8.75e-05 0.0006 0.0005 0.0004 8.794e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20710694 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710694 20710694 Chr22(GRCh37):g.20710694G>C *3-5473 *3-5473 ENST00000454608.2:c.*3-5473C>G p.? p.? 13 12 -5473 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000156 0.000000 0.000000 0.000000 0.001006 0.000000 0.000100 0.000645 0.000000 0.001006 3 0 0 0 1 0 1 1 0 19214 5378 484 228 994 0 10002 1550 578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 57 Genomes transversion C G C>G 0.000 -0.279 183 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.G2426C:p.R809T . . . . 0.12 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 50.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . . . dist\x3d248908\x3bdist\x3d37711 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0.0010 0.0006 9.998e-05 0 . . . . . . . . . . . 1.0E-183 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs62218181 22 20710700 T C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710700 20710700 Chr22(GRCh37):g.20710700T>C *3-5479 *3-5479 ENST00000454608.2:c.*3-5479A>G p.? p.? 13 12 -5479 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs62218181 no no 0 0.000000 0 0.000277 0.000690 0.000189 0.000000 0.000946 0.000159 0.000131 0.001129 0.000507 0.001129 20 3 2 0 3 2 4 5 1 72278 4346 10584 4538 3170 12602 30634 4430 1974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 3 2 0 3 2 4 5 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -1.974 255 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.T2432C:p.M811T . . . . 0.33333334 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 39.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.7637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . 0.21 0.25 182 ENSG00000188280 USP41 . . . dist\x3d248914\x3bdist\x3d37705 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 rs62218181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0002 0.0002 0 0.0007 0 0.0001 0 0.0002 0.0009 0.0010 0 0 0.0024 0.0085 0.0002 0.0034 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62218181 rs62218181 rs62218181 rs62218181 1 1538 10 1/0 0,255,255 +rs62218182 22 20710711 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710711 20710711 Chr22(GRCh37):g.20710711A>G *3-5490 *3-5490 ENST00000454608.2:c.*3-5490T>C p.? p.? 13 12 -5490 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 rs62218182 no no 0 0.000000 0 0.001009 0.005267 0.000991 0.000240 0.001558 0.000447 0.001044 0.000725 0.000000 0.005267 60 13 8 1 3 5 27 3 0 59492 2468 8076 4172 1926 11192 25874 4138 1646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 13 8 1 3 5 27 3 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -1.732 255 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A2443G:p.T815A . . . . 0.43076923 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 65.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . 0.23 0.22 182 ENSG00000188280 USP41 . . . dist\x3d248925\x3bdist\x3d37694 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 rs62218182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0006 0.0010 0.0002 0.0017 0.0003 0.0005 0 0.0004 0.0077 0.0044 0 0 0 0.0061 0.0040 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs62218182 rs62218182 rs62218182 rs62218182 1 1538 10 1/0 0,255,255 +. 22 20710718 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20710718 20710718 Chr22(GRCh37):g.20710718A>G *3-5497 *3-5497 ENST00000454608.2:c.*3-5497T>C p.? p.? 13 12 -5497 3' 97.4828 7.47268 0.743699 4.11939 97.4828 7.47268 0.743699 4.11939 0 0.000213 0.000000 0.000107 0.000000 0.000000 0.000097 0.000152 0.001680 0.000585 0.001680 13 0 1 0 0 1 4 6 1 61004 3288 9346 3786 2714 10302 26288 3572 1708 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 1 0 0 1 4 6 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -2.619 255 PASS . . . . . . . . . . . ENSG00000188280:ENST00000434783:exon8:c.A2450G:p.Q817R . . . . 0.45238096 . . @ 38 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 84.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . . exonic intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . . . dist\x3d248932\x3bdist\x3d37687 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0001 0 0 0 0 0.0002 0.0007 9.707e-05 0 0.0009 0.0067 0 0 0.0136 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796767383 22 20713999 G T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20713999 20713999 Chr22(GRCh37):g.20713999G>T *2+3916 *2+3916 ENST00000454608.2:c.*2+3916C>A p.? p.? 12 12 3916 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 New Acceptor Site 20713997 2.23175 0.447494 64.6502 rs796767383 no no 0 0.000000 0 0.000224 0.000328 0.000000 0.000000 0.000000 0.000000 0.000289 0.000000 0.000000 0.000328 4 2 0 0 0 0 2 0 0 17844 6098 584 112 1106 0 6928 2370 646 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transversion C A C>A 0.000 -3.588 188 PASS . . . . . . . . . . . . . . . . 0.13084112 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 107.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*3013G>T . dist\x3d252213\x3bdist\x3d34406 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,226,255 +. 22 20714002 C T - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20714002 20714002 Chr22(GRCh37):g.20714002C>T *2+3913 *2+3913 ENST00000454608.2:c.*2+3913G>A p.? p.? 12 12 3913 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 0.000043 0.000000 0.001374 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.001374 1 0 1 0 0 0 0 0 0 23288 7838 728 130 1406 0 9186 3172 828 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 39 Genomes transition G A G>A 0.000 0.205 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 119.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*3016C>T . dist\x3d252216\x3bdist\x3d34403 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.294e-05 0.0014 0 0 0 0 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +rs796477476 22 20715683 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715683 20715683 Chr22(GRCh37):g.20715683T>A *2+2232 *2+2232 ENST00000454608.2:c.*2+2232A>T p.? p.? 12 12 2232 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715673 0.05657 58.1757 II.86 0.450208 64.1645 rs796477476 no no 0 0.000000 0 0.003308 0.003820 0.004167 0.000000 0.002079 0.000000 0.002710 0.004482 0.003984 0.004482 49 17 2 0 2 0 17 9 2 14812 4450 480 136 962 0 6274 2008 502 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 49 17 2 0 2 0 17 9 2 0 0 0 0 0 0 0 0 0 RF 63 Genomes transversion A T A>T 0.024 0.044 187 PASS . . . . . . . . . . . . . . . . 0.12903225 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 62.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4697T>A . dist\x3d253897\x3bdist\x3d32722 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0033 0.0042 0 0.0021 0.0045 0.0027 0.0040 . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,249,255 +rs370506516 22 20715720 C G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715720 20715720 Chr22(GRCh37):g.20715720C>G *2+2195 *2+2195 ENST00000454608.2:c.*2+2195G>C p.? p.? 12 12 2195 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715700 1.60165 0.291473 64.6502 2.23175 0.372503 64.6502 rs370506516 yes no Frequency/1000G 2 0.000000 0 0.001797 0.000800 0.001000 0.006000 0.000000 0.001400 0.003068 0.001154 0.005076 0.000000 0.002079 0.000000 0.002086 0.012097 0.010526 0.012097 39 5 2 0 2 0 11 15 4 12712 4334 394 128 962 0 5274 1240 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 39 5 2 0 2 0 11 15 4 0 0 0 0 0 0 0 0 0 RF 64 Genomes transversion G C G>C 0.008 0.205 142 PASS . . . . . 0.0008 0.0018 0.0014 0.006 . 0.001 . . . . . 0.115384616 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 52.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . 0.0018 . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4734C>G . dist\x3d253934\x3bdist\x3d32685 . . . 7 0.000107732 64976 5 8.33528e-05 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 rs370506516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0031 0.0051 0 0.0021 0.0121 0.0021 0.0105 . . . . . . . . . . . 1.0E-142 . . . . . . . . . . . . . . rs370506516 rs370506516 1 1538 10 1/0 0,255,255 +. 22 20715724 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715724 20715724 Chr22(GRCh37):g.20715724G>A *2+2191 *2+2191 ENST00000454608.2:c.*2+2191C>T p.? p.? 12 12 2191 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 0.000051 0.000156 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000156 1 1 0 0 0 0 0 0 0 19634 6402 626 146 1254 0 8100 2462 644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition C T C>T 0.150 0.448 189 PASS . . . . . . . . . . . . . . . . 0.13333334 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4738G>A . dist\x3d253938\x3bdist\x3d32681 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 5.093e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-189 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,251,255 +rs878960499 22 20715732 C A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715732 20715732 Chr22(GRCh37):g.20715732C>A *2+2183 *2+2183 ENST00000454608.2:c.*2+2183G>T p.? p.? 12 12 2183 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715727 0.039121 58.6615 2.36971 0.303079 65.1194 0.000703 0.000402 0.000000 0.000000 0.000000 0.000000 0.001366 0.000000 0.000000 0.001366 16 3 0 0 0 0 13 0 0 22746 7460 694 178 1394 0 9520 2764 736 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 3 0 0 0 0 13 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transversion G T G>T 0.000 -0.117 220 PASS . . . . . . . . . . . . . . . . 0.21666667 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 60.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.4762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4746C>A . dist\x3d253946\x3bdist\x3d32673 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0.0007 0 0 0 0 0.0014 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 20715774 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715774 20715774 Chr22(GRCh37):g.20715774G>C *2+2141 *2+2141 ENST00000454608.2:c.*2+2141C>G p.? p.? 12 12 2141 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs1031284810 no no 0 0.000000 0 0.000328 0.000167 0.000000 0.000000 0.000000 0.000000 0.000392 0.000924 0.000000 0.000924 6 1 0 0 0 0 3 2 0 18298 5996 552 162 1190 0 7650 2164 584 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 3 2 0 0 0 0 0 0 0 0 0 0 RF 47 Genomes transversion C G C>G 0.000 0.690 190 PASS . . . . . . . . . . . . . . . . 0.13414635 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 82.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4788G>C . dist\x3d253988\x3bdist\x3d32631 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0 0 0 0.0009 0.0004 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 22 20715778 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715778 20715778 Chr22(GRCh37):g.20715778G>A *2+2137 *2+2137 ENST00000454608.2:c.*2+2137C>T p.? p.? 12 12 2137 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs957167074 no no 0 0.000000 0 0.000171 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000917 0.001712 0.000917 3 0 0 0 0 0 0 2 1 17526 5782 562 140 1144 0 7132 2182 584 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.016 1.416 186 PASS . . . . . . . . . . . . . . . . 0.12658228 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 79.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.2786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4792G>A . dist\x3d253992\x3bdist\x3d32627 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0.0009 0 0.0017 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,239,255 +. 22 20715791 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715791 20715791 Chr22(GRCh37):g.20715791T>A *2+2124 *2+2124 ENST00000454608.2:c.*2+2124A>T p.? p.? 12 12 2124 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715781 0.038673 58.6615 2.23175 0.396279 64.6502 0.007792 0.015278 0.003049 0.020408 0.008197 0.000000 0.004374 0.000882 0.003623 0.020408 70 44 1 2 5 0 16 1 1 8984 2880 328 98 610 0 3658 1134 276 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 70 44 1 2 5 0 16 1 1 0 0 0 0 0 0 0 0 0 RF 100 Genomes transversion A T A>T 0.000 -2.135 198 PASS . . . . . . . . . . . . . . . . 0.15492958 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 71.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.8653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4805T>A . dist\x3d254005\x3bdist\x3d32614 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0153 0.0078 0.0030 0.0204 0.0082 0.0009 0.0044 0.0036 . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,246,255 +rs573113062 22 20715801 G C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715801 20715801 Chr22(GRCh37):g.20715801G>C *2+2114 *2+2114 ENST00000454608.2:c.*2+2114C>G p.? p.? 12 12 2114 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs573113062 yes no Frequency/1000G 2 0.005192 C 26 0.005192 0.009800 0.004100 0.004000 0.001000 0.005800 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21542 6646 690 170 1334 0 9114 2856 732 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 39 Genomes transversion C G C>G 0.000 -0.521 188 PASS . . . . . 0.0098 0.0052 0.0058 0.004 0.001 0.0041 . . . . . 0.13043478 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 92.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . 0.0052 . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4815G>C . dist\x3d254015\x3bdist\x3d32604 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 0.32 rs573113062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs796749135 22 20715832 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715832 20715832 Chr22(GRCh37):g.20715832G>A *2+2083 *2+2083 ENST00000454608.2:c.*2+2083C>T p.? p.? 12 12 2083 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs796749135 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20788 6718 640 170 1334 0 8546 2674 706 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition C T C>T 0.016 0.448 209 PASS . . . . . . . . . . . . . . . . 0.1826923 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 104.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4846G>A . dist\x3d254046\x3bdist\x3d32573 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,232,255 +rs200821821 22 20715851 T C - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715851 20715851 Chr22(GRCh37):g.20715851T>C *2+2064 *2+2064 ENST00000454608.2:c.*2+2064A>G p.? p.? 12 12 2064 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs200821821 yes no Frequency 1 0.000000 0 0.001120 0.000164 0.001880 0.000000 0.000840 0.000000 0.000904 0.004606 0.000000 0.004606 21 1 1 0 1 0 7 11 0 18744 6108 532 160 1190 0 7740 2388 626 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21 1 1 0 1 0 7 11 0 0 0 0 0 0 0 0 0 0 RF 46 Genomes transition A G A>G 0.000 -1.570 214 PASS . . . . . . . . . . . . . . . . 0.19587629 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 97.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.9338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . 0.32 0.47 182 ENSG00000188280 USP41 . ENST00000434783:c.*4865T>C . dist\x3d254065\x3bdist\x3d32554 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET 0.4 rs200821821 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0011 0.0019 0 0.0008 0.0046 0.0009 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . rs200821821 rs200821821 1 1538 10 1/0 0,236,255 +rs201109889 22 20715859 G A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715859 20715859 Chr22(GRCh37):g.20715859G>A *2+2056 *2+2056 ENST00000454608.2:c.*2+2056C>T p.? p.? 12 12 2056 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 rs201109889 yes no Frequency 1 0.000000 0 0.000738 0.000147 0.000000 0.000000 0.000000 0.000000 0.001339 0.000800 0.001529 0.001339 15 1 0 0 0 0 11 2 1 20336 6814 628 172 1350 0 8218 2500 654 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 1 0 0 0 0 11 2 1 0 0 0 0 0 0 0 0 0 RF 41 Genomes transition C T C>T 0.000 0.770 181 PASS . . . . . . . . . . . . . . . . 0.11504425 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 113.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.5633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . 0.39 0.52 182 ENSG00000188280 USP41 . ENST00000434783:c.*4873G>A . dist\x3d254073\x3bdist\x3d32546 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . rs201109889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0007 0 0 0 0.0008 0.0013 0.0015 . . . . . . . . . . . 1.0E-181 . . . . . . . . . . . . . . rs201109889 rs201109889 1 1538 10 1/0 0,222,255 +. 22 20715895 A G - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715895 20715895 Chr22(GRCh37):g.20715895A>G *2+2020 *2+2020 ENST00000454608.2:c.*2+2020T>C p.? p.? 12 12 2020 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 0.000142 0.000226 0.000000 0.000000 0.000000 0.000000 0.000166 0.000000 0.000000 0.000226 2 1 0 0 0 0 1 0 0 14066 4420 440 134 948 0 6030 1636 458 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 58 Genomes transition T C T>C 0.000 -0.360 182 PASS . . . . . . . . . . . . . . . . 0.11764706 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 68.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.6783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4909A>G . dist\x3d254109\x3bdist\x3d32510 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0001 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-182 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,244,255 +rs796646717 22 20715980 T A - USP41 20070 Ubiquitin specific peptidase 41 ENST00000454608.2 -1 1427 1071 UBP41_HUMAN substitution intron GRCh37 20715980 20715980 Chr22(GRCh37):g.20715980T>A *2+1935 *2+1935 ENST00000454608.2:c.*2+1935A>T p.? p.? 12 12 1935 5' 86.16 9.44859 0.996538 3.70886 86.16 9.44859 0.996538 3.70886 0 Cryptic Acceptor Strongly Activated 20715970 0.030569 58.6615 1.60165 0.281915 64.6502 rs796646717 no no 0 0.000000 0 0.006392 0.005517 0.004000 0.017241 0.005556 0.000000 0.006044 0.010695 0.000000 0.017241 31 8 1 1 2 0 11 8 0 4850 1450 250 58 360 0 1820 748 164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 8 1 1 2 0 11 8 0 0 0 0 0 0 0 0 0 0 RF 163 Genomes transversion A T A>T 0.055 0.609 184 PASS . . . . . . . . . . . . . . . . 0.12307692 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 65.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -0.3780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 intronic intergenic . . . @ . . . . . . ENSG00000188280 USP41 . ENST00000434783:c.*4994T>A . dist\x3d254194\x3bdist\x3d32425 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0055 0.0064 0.004 0.0172 0.0056 0.0107 0.0060 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +rs183365495 22 20818933 T A - KLHL22 25888 Kelch-like 22 (Drosophila) NM_032775.3 -1 2616 1905 NP_116164.2 Q53GT1 substitution intron GRCh37 20818933 20818933 Chr22(GRCh37):g.20818933T>A 1112+212 1112+212 NM_032775.3:c.1112+212A>T p.? p.? 4 4 212 5' 81.5358 8.23527 0.558096 3.57892 81.5358 8.23527 0.558096 3.57892 0 Cryptic Acceptor Strongly Activated 20818924 5.62586 0.772875 77.6131 7.81618 0.936262 80.5675 rs183365495 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001099 0.000344 0.000000 0.000000 0.000000 0.000000 0.002002 0.000287 0.000000 0.002002 34 3 0 0 0 0 30 1 0 30932 8724 838 302 1620 0 14982 3488 978 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 3 0 0 0 0 30 1 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion A T A>T 0.000 0.044 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.3478261 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . 0.2536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.46 0.26 182 ENSG00000099910 KLHL22 KLHL22 . . . . . . 102 0.00156981 64976 100 0.00166706 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs183365495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0011 0 0 0 0.0003 0.0020 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs183365495 rs183365495 1 1538 10 1/0 0,255,255 +rs146696139 22 20929226 G A - MED15 14248 Mediator complex subunit 15 NM_001003891.2 1 3432 2367 NP_001003891.1 Q96RN5 substitution intron GRCh37 20929226 20929226 Chr22(GRCh37):g.20929226G>A 1153-174 1153-174 NM_001003891.2:c.1153-174G>A p.? p.? 9 8 607372 -174 3' 74.7006 7.79205 0.635688 9.56469 74.7006 7.79205 0.635688 9.56469 0 rs146696139 yes no Frequency/1000G 2 G 0.000000 0 0.000399 0.000000 0.000000 0.000000 0.002000 0.000000 0.001227 0.000344 0.000000 0.000000 0.000000 0.000000 0.002267 0.000286 0.000000 0.002267 38 3 0 0 0 0 34 1 0 30964 8730 838 302 1622 0 14996 3494 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 3 0 0 0 0 34 1 0 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 -1.409 255 PASS . 0.0005 . . 0.0013 . 0.0004 . . 0.002 . . . . . . 0.62857145 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 35.0 . . . . . . . . . . -0.1481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.0004 . . . 0.24 0.18 182 ENSG00000099917 MED15 MED15 . uc002zst.3:c.-174G>A . . . . 84 0.00129279 64976 82 0.00136699 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146696139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0012 0 0 0 0.0003 0.0023 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . rs146696139 rs146696139 1 1538 10 1/0 0,255,255 +rs779922641 22 21044524 C G - POM121L4P 19326 POM121 transmembrane nucleoporin-like 4 pseudogene NR_024592.1 1 2167 0 substitution exon GRCh37 21044524 21044524 Chr22(GRCh37):g.21044524C>G 682 682 NR_024592.1:n.682C>G 1 rs779922641 yes no Frequency 1 0.000000 0 0.000109 0.000072 0.000000 0.000000 0.000000 0.000094 0.000222 0.000000 0.000000 0.000222 17 1 0 0 0 2 14 0 0 156174 13800 24178 7788 11480 21350 63000 10148 4430 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 1 0 0 0 2 14 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -1.812 178 PASS . . . . . . . . . . . . POM121L4P:uc002zsw.2:exon1:c.C206G:p.P69R . . . 0.10958904 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 73.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Ggt|R228G|POM121L4P|Non-coding_transcript|NON_CODING|NR_024592|NR_024592.ex.1) . . . . . . . -1.8629 . . . . . . . . 1.146e-04 . . . 0 0.0002 0 0 . 0.0003 0 0.0002 0 0.0002 0 0 0 0.0005 0 0.0002 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000217261 POM121L4P POM121L4P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF 1 rs779922641 . . . . . . . . . . . . . . ENST00000412250 0.507 -0.766 . 0.870000 F5H5H7 . . . . . . . . . 0 6.978e-05 0 0 0 0 0.0001 0 9.368e-05 0.0001 0.0003 0 0 0 0 0.0006 0 . . . . -1.782 -1.782000 . . 0.870000 . . 1.0E-178 . . . . . . . . . -1.782 . . rs9620846 rs9620846 rs9620846 rs9620846 1 1538 10 1/0 0,240,255 +rs148541070 22 21369548 A T - P2RX6 8538 Purinergic receptor P2X 6 NM_005446.4 1 2737 1326 NP_005437.2 O15547 substitution stop gain exon GRCh37 21369548 21369548 Chr22(GRCh37):g.21369548A>T 85 85 NM_005446.4:c.85A>T p.Lys29* p.Lys29* 1 608077 -80 5' 85.4037 9.20665 0.981071 5.73636 85.4037 9.20665 0.981071 5.72629 0 P2X purinoreceptor rs148541070 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.005261 0.000759 0.001378 0.010515 0.000000 0.000513 0.006293 0.012368 0.004778 0.012368 1121 15 25 78 0 11 667 303 22 213084 19758 18142 7418 11206 21460 105998 24498 4604 0.000094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000132 0.000245 0.000000 10 0 0 0 0 0 7 3 0 1101 15 25 78 0 11 653 297 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8548 4404 12952 52 2 54 0.00604651 0.000453926 0.00415193 0.00604651 0.000453926 0.00415193 100 transversion A T A>T 0.984 1.577 K Lys AAG 0.575 * * TAG 0.234 29 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0029 . 0.001 . . . . . . 0.4 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.635 . . 125.0 . . . 0.0005 0.0042 0.006 0.0005 0.0042 0.006 . 0.6486 0.460 0.649 c . . . . . 4.817e-03 . . . 0.0007 0.0037 0.0010 0 0.0118 0.0063 0.0028 0.0004 0.0006 0.0046 0.0009 0 0.0129 0.0071 0.0043 0.0004 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.519 0.0006 . . . 0.54 0.63 182 ENSG00000099957 P2RX6 P2RX6 . . . 1.000 0.747 . 273 0.00420155 64976 270 0.00450105 59986 Uncertain_significance . 0 . 0.473 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.427 . . . HET 0 rs148541070 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 X.49 2.68E-4 . IV.38 IV.38 . 1.000000 . . . . 0.004152 . 0.507 . . IV.38 0.0005 0.0055 0.0014 0.0108 0 0.0130 0.0065 0.0050 0.0005 0.0010 0.0039 0 0.0033 0 0.0086 0.0051 0.0041 . . 0.223 . 1.762 1.762000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.352 0.994 . 0.573 . 0.598 1.762 1.062 0.006 . . rs148541070 rs148541070 1 1538 10 1/0 0,244,255 +rs148541070 22 21369548 A T - TUBA3FP 24067 Tubulin, alpha 3f, pseudogene NR_003608.1 -1 1964 0 substitution upstream GRCh37 21369548 21369548 Chr22(GRCh37):g.21369548A>T -972 -972 NR_003608.1:n.-972T>A p.? p.? 1 -1478 5' 82.5196 8.59441 0.959989 V.23 82.5196 8.59441 0.959989 V.23 0 rs148541070 yes no Frequency/1000G 2 A 0.000000 0 0.000599 0.000000 0.000000 0.000000 0.001000 0.002900 0.005261 0.000759 0.001378 0.010515 0.000000 0.000513 0.006293 0.012368 0.004778 0.012368 1121 15 25 78 0 11 667 303 22 213084 19758 18142 7418 11206 21460 105998 24498 4604 0.000094 0.000000 0.000000 0.000000 0.000000 0.000000 0.000132 0.000245 0.000000 10 0 0 0 0 0 7 3 0 1101 15 25 78 0 11 653 297 22 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8548 4404 12952 52 2 54 0.00604651 0.000453926 0.00415193 0.00604651 0.000453926 0.00415193 100 transversion T A T>A 0.984 1.577 255 PASS . 0.0009 0.0028 . 0.0013 . 0.0006 0.0029 . 0.001 . . . . . . 0.4 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.969 . @ . . . . . 0 0.635 . . 125.0 . . . 0.0005 0.0042 0.006 0.0005 0.0042 0.006 . 0.6486 0.460 0.649 c . . . . . 4.817e-03 . . . 0.0007 0.0037 0.0010 0 0.0118 0.0063 0.0028 0.0004 0.0006 0.0046 0.0009 0 0.0129 0.0071 0.0043 0.0004 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.519 0.0006 . . . 0.54 0.63 182 ENSG00000099957 P2RX6 P2RX6 . . . 1.000 0.747 . 273 0.00420155 64976 270 0.00450105 59986 Uncertain_significance . 0 . 0.473 . . . . . . . . . 37 . . . . . . . . . 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . 0.427 . . . HET 0 rs148541070 . . . . . . . 9.157509157509158E-4 0.0 0.0027624309392265192 0.0 0.0013192612137203166 X.49 2.68E-4 . IV.38 IV.38 . 1.000000 . . . . 0.004152 . 0.507 . . IV.38 0.0005 0.0055 0.0014 0.0108 0 0.0130 0.0065 0.0050 0.0005 0.0010 0.0039 0 0.0033 0 0.0086 0.0051 0.0041 . . 0.223 . 1.762 1.762000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.352 0.994 . 0.573 . 0.598 1.762 1.062 0.006 . . rs148541070 rs148541070 1 1538 10 1/0 0,244,255 +rs544077370 22 21386214 C T - SLC7A4 11062 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 NM_004173.2 -1 2313 1908 NP_004164.2 O43246 substitution intron GRCh37 21386214 21386214 Chr22(GRCh37):g.21386214C>T -113 -113 NM_004173.2:c.-40-73G>A p.? p.? 2 1 603752 -73 3' 0 6.59457 0.682894 4.1037 0 6.59457 0.682894 3.94511 0 rs544077370 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.000000 0.001400 0.001940 0.000344 0.000000 0.000000 0.000000 0.000000 0.002671 0.004293 0.002041 0.004293 60 3 0 0 0 0 40 15 2 30924 8714 838 302 1622 0 14974 3494 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 3 0 0 0 0 40 15 2 0 0 0 0 0 0 0 0 0 PASS 43 Genomes transition G A G>A 0.000 0.205 255 PASS . . . . . . 0.0002 0.0014 . . . . . . . . 0.5294118 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . . . . . . . . . -0.0035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intronic . . . 0.0002 . . . . . . ENSG00000226872 SLC7A4 SLC7A4 . . . . . . 141 0.00217003 64976 140 0.00233388 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs544077370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0019 0 0 0 0.0043 0.0027 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21473071 T G - BCRP2 1015 Breakpoint cluster region pseudogene 2 NR_037566.1 1 2334 0 substitution splice site GRCh37 21473071 21473071 Chr22(GRCh37):g.21473071T>G 689-5 689-5 NR_037566.1:n.689-5T>G p.? p.? 5 4 113630 -5 3' 88.0284 10.0643 0.974754 X.99 81.5705 8.20316 0.861999 8.70823 -0.124654 transversion T G T>G 0.055 -0.521 188 PASS . . . . . . . . . . . . . . . . 0.13207547 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||BCRP2|Non-coding_transcript|NON_CODING|NR_037566|) . . . . . . . -0.3725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic\x3bsplicing ncRNA_exonic ncRNA_intronic . . . @ . . . 0.56 0.29 182 ENSG00000169668\x3bENSG00000197210 AL117485 BCRP2 ENST00000420508:exon4:c.2209-2A>C . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-188 . . . . . . . . . . . . rs140436 rs140436 rs140436 rs140436 1 1538 10 1/0 0,255,255 +rs140438 22 21473253 C G - BCRP2 1015 Breakpoint cluster region pseudogene 2 NR_037566.1 1 2334 0 substitution intron GRCh37 21473253 21473253 Chr22(GRCh37):g.21473253C>G 851+15 851+15 NR_037566.1:n.851+15C>G p.? p.? 5 5 113630 15 5' 84.8076 9.98517 0.957869 8.25062 84.8076 9.98517 0.957869 8.23006 0 rs140438 no no 0 0.000000 0 transversion C G C>G 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.3478261 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . INTRON(MODIFIER||||BCRP2|Non-coding_transcript|NON_CODING|NR_037566|) . . . . . . . -0.6219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.5 0.25 182 . AL117485 BCRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs140438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs140438 rs140438 rs140438 rs140438 1 1538 10 1/0 0,255,255 +rs879989021 22 21474018 C T - BCRP2 1015 Breakpoint cluster region pseudogene 2 NR_037566.1 1 2334 0 substitution intron GRCh37 21474018 21474018 Chr22(GRCh37):g.21474018C>T 851+780 851+780 NR_037566.1:n.851+780C>T p.? p.? 5 5 113630 780 5' 84.8076 9.98517 0.957869 8.25062 84.8076 9.98517 0.957869 8.25062 0 rs879989021 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Genomes transition C T C>T 1.000 1.416 252 PASS . . . . . . . . . . . . . . . . 0.32142857 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 28.0 . . INTRON(MODIFIER||||BCRP2|Non-coding_transcript|NON_CODING|NR_037566|) . . . . . . . 0.3972 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_intronic . . . @ . . . 0.62 0.29 182 ENSG00000169668 AL117485 BCRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-252 . . . . . . . . . . . . rs5742571 rs5742571 rs5742571 rs5742571 1 1538 10 1/0 0,255,255 +. 22 21474073 G A - BCRP2 1015 Breakpoint cluster region pseudogene 2 NR_037566.1 1 2334 0 substitution intron GRCh37 21474073 21474073 Chr22(GRCh37):g.21474073G>A 851+835 851+835 NR_037566.1:n.851+835G>A p.? p.? 5 5 113630 835 5' 84.8076 9.98517 0.957869 8.25062 84.8076 9.98517 0.957869 8.25062 0 transition G A G>A 0.197 -0.682 226 PASS . . . . . . . . . . . . . . . . 0.23529412 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 34.0 . . INTRON(MODIFIER||||BCRP2|Non-coding_transcript|NON_CODING|NR_037566|) . . . . . . . -0.3826 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_intronic . . . @ . . . . . . . AL117485 BCRP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. (chr22:21480096 G/A) 22 21480096 G A No Alamut gene - other known genes: POM121L7 POM121L7 +. (chr22:21480619 T/A) 22 21480619 T A No Alamut gene - other known genes: POM121L7 POM121L7 +rs662899 (chr22:21480847 G/T) 22 21480847 G T No Alamut gene - other known genes: POM121L7 POM121L7 +. (chr22:21481540 G/A) 22 21481540 G A No Alamut gene - other known genes: POM121L7 POM121L7 +rs561456 22 21520390 G C - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520390 21520390 Chr22(GRCh37):g.21520390G>C -802 -802 NR_108107.1:n.-802G>C p.? p.? 1 -1014 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs561456 no no 0 0.000000 0 0.002041 0.005639 0.000000 0.000000 0.001355 0.000000 0.000940 0.001912 0.000000 0.005639 24 15 0 0 1 0 6 2 0 11758 2660 408 166 738 0 6380 1046 360 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 15 0 0 1 0 6 2 0 0 0 0 0 0 0 0 0 0 RF 49 Genomes transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.64705884 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 17.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.33 0.26 182 . . FAM230B dist\x3d23730\x3bdist\x3d1657 dist\x3d38295\x3bdist\x3d17613 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371419044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0056 0.0020 0 0 0.0014 0.0019 0.0009 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs561456 rs561456 rs561456 rs371419044 1 1538 10 1/0 0,255,255 +. 22 21520403 C T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520403 21520403 Chr22(GRCh37):g.21520403C>T -789 -789 NR_108107.1:n.-789C>T p.? p.? 1 -1001 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Weakly Activated 21520408 5.33446 0.002429 68.4091 4.59598 0.005142 71.9547 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23264 6754 686 200 1484 0 11130 2284 726 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 29 Genomes transition C T C>T 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.35 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 20.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23743\x3bdist\x3d1644 dist\x3d38308\x3bdist\x3d17600 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs80090893 22 21520415 A G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520415 21520415 Chr22(GRCh37):g.21520415A>G -777 -777 NR_108107.1:n.-777A>G p.? p.? 1 -989 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs80090893 no no 0 0.000000 0 0.003503 0.003188 0.003030 0.000000 0.001767 0.000000 0.002008 0.019280 0.003165 0.019280 38 7 1 0 1 0 13 15 1 10848 2196 330 188 566 0 6474 778 316 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 7 1 0 1 0 13 15 1 0 0 0 0 0 0 0 0 0 RF 61 Genomes transition A G A>G 0.000 -14.080 236 PASS . . . . . . . . . . . . . . . . 0.53846157 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 26.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.38 0.22 182 . . FAM230B dist\x3d23755\x3bdist\x3d1632 dist\x3d38320\x3bdist\x3d17588 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374512734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0035 0.0030 0 0.0018 0.0193 0.0020 0.0032 . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . rs80090893 rs374512734 1 1538 10 1/0 0,255,255 +rs75224930 22 21520425 A T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520425 21520425 Chr22(GRCh37):g.21520425A>T -767 -767 NR_108107.1:n.-767A>T p.? p.? 1 -979 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21520437 3.33092 0.528775 X.97 0.861921 84.5116 rs75224930 no no 0 0.000000 0 0.003641 0.002657 0.006211 0.000000 0.001792 0.000000 0.002282 0.019789 0.003030 0.019789 40 6 2 0 1 0 15 15 1 10986 2258 322 188 558 0 6572 758 330 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 6 2 0 1 0 15 15 1 0 0 0 0 0 0 0 0 0 RF 61 Genomes transversion A T A>T 0.000 -14.080 230 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.37 0.23 182 . . FAM230B dist\x3d23765\x3bdist\x3d1622 dist\x3d38330\x3bdist\x3d17578 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0036 0.0062 0 0.0018 0.0198 0.0023 0.0030 . . . . . . . . . . . 1.0E-230 . . . . . . . . . . . . . . rs75224930 rs75224930 1 1538 10 1/0 0,255,255 +. 22 21520426 G A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520426 21520426 Chr22(GRCh37):g.21520426G>A -766 -766 NR_108107.1:n.-766G>A p.? p.? 1 -978 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21520437 3.33092 0.528775 7.48711 0.505479 78.6594 transition G A G>A 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.40625 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 32.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23766\x3bdist\x3d1621 dist\x3d38331\x3bdist\x3d17577 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21520442 A C - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520442 21520442 Chr22(GRCh37):g.21520442A>C -750 -750 NR_108107.1:n.-750A>C p.? p.? 1 -962 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Donor Weakly Activated 21520436 6.80373 0.492566 84.4819 7.09429 0.511193 84.0323 0.000294 0.000172 0.000000 0.000000 0.000000 0.000000 0.000202 0.001479 0.000000 0.001479 6 1 0 0 0 0 2 3 0 20414 5824 594 200 1280 0 9878 2028 610 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 1 0 0 0 0 2 3 0 0 0 0 0 0 0 0 0 0 RF 36 Genomes transversion A C A>C 0.000 -14.080 186 PASS . . . . . . . . . . . . . . . . 0.12820514 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 39.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.46 0.27 182 . . FAM230B dist\x3d23782\x3bdist\x3d1605 dist\x3d38347\x3bdist\x3d17561 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0003 0 0 0 0.0015 0.0002 0 . . . . . . . . . . . 1.0E-186 . . . . . . . . . . . . . . rs80329371 rs80329371 1 1538 10 1/0 0,255,255 +rs79634627 22 21520443 G A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520443 21520443 Chr22(GRCh37):g.21520443G>A -749 -749 NR_108107.1:n.-749G>A p.? p.? 1 -961 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs79634627 no no 0 0.000000 0 0.004128 0.003492 0.005464 0.000000 0.002551 0.000000 0.002062 0.022177 0.005405 0.022177 53 10 2 0 2 0 15 22 2 12840 2864 366 190 784 0 7274 992 370 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 53 10 2 0 2 0 15 22 2 0 0 0 0 0 0 0 0 0 RF 51 Genomes transition G A G>A 0.000 -14.080 231 PASS . . . . . . . . . . . . . . . . 0.25 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 36.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.44 0.25 182 . . FAM230B dist\x3d23783\x3bdist\x3d1604 dist\x3d38348\x3bdist\x3d17560 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs369363014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0041 0.0055 0 0.0026 0.0222 0.0021 0.0054 . . . . . . . . . . . 1.0E-231 . . . . . . . . . . . . . . rs76941322 rs369363014 1 1538 10 1/0 0,255,255 +rs796157642 22 21520448 T G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520448 21520448 Chr22(GRCh37):g.21520448T>G -744 -744 NR_108107.1:n.-744T>G p.? p.? 1 -956 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796157642 no no 0 0.000000 0 0.001149 0.000000 0.000000 0.000000 0.000831 0.000000 0.000201 0.012535 0.001730 0.012535 22 0 0 0 1 0 2 18 1 19152 5270 522 196 1204 0 9946 1436 578 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 0 1 0 2 18 1 0 0 0 0 0 0 0 0 0 RF 38 Genomes transversion T G T>G 0.000 -14.080 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.51 0.28 182 . . FAM230B dist\x3d23788\x3bdist\x3d1599 dist\x3d38353\x3bdist\x3d17555 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0011 0 0 0.0008 0.0125 0.0002 0.0017 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . rs78708842 rs78708842 1 1538 10 1/0 0,255,255 +. 22 21520452 A G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520452 21520452 Chr22(GRCh37):g.21520452A>G -740 -740 NR_108107.1:n.-740A>G p.? p.? 1 -952 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 transition A G A>G 0.000 -14.080 247 PASS . . . . . . . . . . . . . . . . 0.3 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23792\x3bdist\x3d1595 dist\x3d38357\x3bdist\x3d17551 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-247 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796769998 22 21520465 C T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520465 21520465 Chr22(GRCh37):g.21520465C>T -727 -727 NR_108107.1:n.-727C>T p.? p.? 1 -939 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796769998 no no 0 0.000000 0 0.003650 0.003234 0.002688 0.000000 0.002519 0.000000 0.002391 0.017598 0.000000 0.017598 47 10 1 0 2 0 17 17 0 12876 3092 372 166 794 0 7110 966 376 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 47 10 1 0 2 0 17 17 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition C T C>T 0.000 -14.080 237 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23805\x3bdist\x3d1582 dist\x3d38370\x3bdist\x3d17538 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0037 0.0027 0 0.0025 0.0176 0.0024 0 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs76323659 rs76323659 1 1538 10 1/0 0,255,255 +rs796786755 22 21520477 T G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520477 21520477 Chr22(GRCh37):g.21520477T>G -715 -715 NR_108107.1:n.-715T>G p.? p.? 1 -927 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796786755 no no 0 0.000000 0 0.001982 0.001433 0.005000 0.000000 0.001202 0.000000 0.000954 0.011952 0.000000 0.011952 27 5 2 0 1 0 7 12 0 13626 3488 400 168 832 0 7340 1004 394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 5 2 0 1 0 7 12 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion T G T>G 0.000 -14.080 220 PASS . . . . . . . . . . . . . . . . 0.2173913 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 46.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.45 0.25 182 . . FAM230B dist\x3d23817\x3bdist\x3d1570 dist\x3d38382\x3bdist\x3d17526 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0020 0.005 0 0.0012 0.0120 0.0010 0 . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . . . rs75120345 rs75120345 1 1538 10 1/0 0,255,255 +rs368617620 22 21520481 G C - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520481 21520481 Chr22(GRCh37):g.21520481G>C -711 -711 NR_108107.1:n.-711G>C p.? p.? 1 -923 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs368617620 no no 0 0.000000 0 transversion G C G>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.37777779 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . . . . . . FAM230B dist\x3d23821\x3bdist\x3d1566 dist\x3d38386\x3bdist\x3d17522 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368617620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs368617620 rs368617620 1 1538 10 1/0 0,255,255 +rs371591776 22 21520490 T C - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520490 21520490 Chr22(GRCh37):g.21520490T>C -702 -702 NR_108107.1:n.-702T>C p.? p.? 1 -914 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs371591776 no no 0 0.000000 0 0.002923 0.002724 0.002688 0.000000 0.002463 0.000000 0.001493 0.015856 0.000000 0.015856 37 9 1 0 2 0 10 15 0 12658 3304 372 146 812 0 6696 946 382 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 37 9 1 0 2 0 10 15 0 0 0 0 0 0 0 0 0 0 RF 50 Genomes transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.5777778 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.53 0.33 182 . . FAM230B dist\x3d23830\x3bdist\x3d1557 dist\x3d38395\x3bdist\x3d17513 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs371591776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0029 0.0027 0 0.0025 0.0159 0.0015 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs371591776 rs371591776 1 1538 10 1/0 0,255,255 +rs376695092 22 21520506 G T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520506 21520506 Chr22(GRCh37):g.21520506G>T -686 -686 NR_108107.1:n.-686G>T p.? p.? 1 -898 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21520519 6.11823 0.038863 72.2247 7.49463 0.253907 77.8213 rs376695092 no no 0 0.000000 0 0.002491 0.002591 0.002778 0.000000 0.001362 0.000000 0.000970 0.013580 0.005848 0.013580 29 8 1 0 1 0 6 11 2 11644 3088 360 126 734 0 6184 810 342 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 8 1 0 1 0 6 11 2 0 0 0 0 0 0 0 0 0 RF 54 Genomes transversion G T G>T 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.59090906 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 44.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.27 0.15 182 . . FAM230B dist\x3d23846\x3bdist\x3d1541 dist\x3d38411\x3bdist\x3d17497 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs376695092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0025 0.0028 0 0.0014 0.0136 0.0010 0.0058 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs76755141 rs376695092 1 1538 10 1/0 0,255,255 +rs796827694 22 21520512 A T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520512 21520512 Chr22(GRCh37):g.21520512A>T -680 -680 NR_108107.1:n.-680A>T p.? p.? 1 -892 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21520519 6.11823 0.038863 72.2247 7.36263 0.384628 77.1502 rs796827694 no no 0 0.000000 0 0.001505 0.001591 0.002513 0.000000 0.001205 0.000000 0.000437 0.007592 0.005263 0.007592 20 6 1 0 1 0 3 7 2 13292 3772 398 130 830 0 6860 922 380 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 6 1 0 1 0 3 7 2 0 0 0 0 0 0 0 0 0 RF 48 Genomes transversion A T A>T 0.000 -14.080 206 PASS . . . . . . . . . . . . . . . . 0.17777778 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 45.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.25 0.18 182 . . FAM230B dist\x3d23852\x3bdist\x3d1535 dist\x3d38417\x3bdist\x3d17491 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0016 0.0015 0.0025 0 0.0012 0.0076 0.0004 0.0053 . . . . . . . . . . . 1.0E-206 . . . . . . . . . . . . . . rs75257717 rs75257717 1 1538 10 1/0 0,255,255 +rs796621052 22 21520523 G A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520523 21520523 Chr22(GRCh37):g.21520523G>A -669 -669 NR_108107.1:n.-669G>A p.? p.? 1 -881 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796621052 no no 0 0.000000 0 0.001907 0.002395 0.005747 0.000000 0.001326 0.000000 0.001103 0.004938 0.003012 0.005747 23 8 2 0 1 0 7 4 1 12058 3340 348 128 754 0 6346 810 332 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 23 8 2 0 1 0 7 4 1 0 0 0 0 0 0 0 0 0 RF 53 Genomes transition G A G>A 0.000 -14.080 227 PASS . . . . . . . . . . . . . . . . 0.23684211 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 38.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.32 0.16 182 . . FAM230B dist\x3d23863\x3bdist\x3d1524 dist\x3d38428\x3bdist\x3d17480 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0019 0.0057 0 0.0013 0.0049 0.0011 0.0030 . . . . . . . . . . . 1.0000000000000001E-227 . . . . . . . . . . . . . . rs79437299 rs79437299 1 1538 10 1/0 0,255,255 +rs796882196 22 21520537 G T - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520537 21520537 Chr22(GRCh37):g.21520537G>T -655 -655 NR_108107.1:n.-655G>T p.? p.? 1 -867 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs796882196 no no 0 0.000000 0 0.002076 0.002528 0.000000 0.000000 0.002941 0.000000 0.000975 0.009115 0.003067 0.009115 24 8 0 0 2 0 6 7 1 11558 3164 334 134 680 0 6152 768 326 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 8 0 0 2 0 6 7 1 0 0 0 0 0 0 0 0 0 RF 56 Genomes transversion G T G>T 0.000 -14.080 235 PASS . . . . . . . . . . . . . . . . 0.2647059 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 34.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.27 0.17 182 . . FAM230B dist\x3d23877\x3bdist\x3d1510 dist\x3d38442\x3bdist\x3d17466 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0025 0.0021 0 0 0.0029 0.0091 0.0010 0.0031 . . . . . . . . . . . 1.0E-235 . . . . . . . . . . . . . . rs78437043 rs78437043 1 1538 10 1/0 0,255,255 +rs34176112 22 21520548 T A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution upstream GRCh37 21520548 21520548 Chr22(GRCh37):g.21520548T>A -644 -644 NR_108107.1:n.-644T>A p.? p.? 1 -856 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 rs34176112 no no 0 0.000000 0 0.001262 0.001459 0.002688 0.000000 0.001587 0.000000 0.000655 0.003341 0.003106 0.003341 15 5 1 0 1 0 4 3 1 11882 3426 372 124 630 0 6110 898 322 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 15 5 1 0 1 0 4 3 1 0 0 0 0 0 0 0 0 0 RF 53 Genomes transversion T A T>A 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.5925926 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 27.0 . . UPSTREAM(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic upstream . . . @ . . . 0.33 0.13 182 . . FAM230B dist\x3d23888\x3bdist\x3d1499 dist\x3d38453\x3bdist\x3d17455 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs34176112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0013 0.0027 0 0.0016 0.0033 0.0007 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs77647632 rs77647632 1 1538 10 1/0 0,255,255 +. 22 21522153 C G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21522153 21522153 Chr22(GRCh37):g.21522153C>G 212+750 212+750 NR_108107.1:n.212+750C>G p.? p.? 1 1 750 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 0.000477 0.000602 0.000000 0.000000 0.000000 0.000000 0.000358 0.000787 0.001269 0.000787 12 5 0 0 0 0 4 2 1 25148 8306 580 142 1614 0 11178 2540 788 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 12 5 0 0 0 0 4 2 1 0 0 0 0 0 0 0 0 0 RF 46 Genomes transversion C G C>G 0.012 0.528 214 PASS . . . . . . . . . . . . . . . . 0.19736843 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000215498 . FAM230B . dist\x3d40058\x3bdist\x3d15850 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0005 0 0 0 0.0008 0.0004 0.0013 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . rs5993170 rs5993170 . . 1 1538 10 1/0 0,247,255 +. 22 21522166 G A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21522166 21522166 Chr22(GRCh37):g.21522166G>A 212+763 212+763 NR_108107.1:n.212+763G>A p.? p.? 1 1 763 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 Cryptic Acceptor Strongly Activated 21522177 3.33092 0.61293 7.48711 0.565101 78.6594 transition G A G>A 0.000 -0.763 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.5634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000215498 . FAM230B . dist\x3d40071\x3bdist\x3d15837 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 22 21522171 T A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21522171 21522171 Chr22(GRCh37):g.21522171T>A 212+768 212+768 NR_108107.1:n.212+768T>A p.? p.? 1 1 768 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 0.000379 0.000567 0.000000 0.000000 0.000000 0.000000 0.000229 0.000529 0.001520 0.000567 7 3 0 0 0 0 2 1 1 18476 5292 444 118 1320 0 8752 1892 658 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 3 0 0 0 0 2 1 1 0 0 0 0 0 0 0 0 0 RF 59 Genomes transversion T A T>A 0.012 0.448 223 PASS . . . . . . . . . . . . . . . . 0.21917808 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 73.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2967 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . 0.53 0.1 182 ENSG00000215498 . FAM230B . dist\x3d40076\x3bdist\x3d15832 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0004 0 0 0 0.0005 0.0002 0.0015 . . . . . . . . . . . 1.0E-223 . . . . . . . . . . . . . rs71313953 . . 1 1538 10 1/0 0,251,255 +. 22 21522173 A G - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21522173 21522173 Chr22(GRCh37):g.21522173A>G 212+770 212+770 NR_108107.1:n.212+770A>G p.? p.? 1 1 770 5' 89.5197 9.78772 0.997978 0.530374 89.5197 9.78772 0.997978 0.530374 0 0.000450 0.001232 0.000000 0.000000 0.000000 0.000000 0.000094 0.000000 0.000000 0.001232 11 10 0 0 0 0 1 0 0 24428 8116 578 120 1586 0 10610 2648 770 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 10 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 44 Genomes transition A G A>G 0.016 0.448 185 PASS . . . . . . . . . . . . . . . . 0.125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.2935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic ncRNA_intronic . . . @ . . . . . . ENSG00000215498 . FAM230B . dist\x3d40078\x3bdist\x3d15830 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0005 0 0 0 0 9.425e-05 0 . . . . . . . . . . . 1.0E-185 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,242,255 +. 22 21535354 T A - FAM230B 32943 Family with sequence similarity 230, member B (non-protein coding) NR_108107.1 1 3322 0 substitution intron GRCh37 21535354 21535354 Chr22(GRCh37):g.21535354T>A 545+9 545+9 NR_108107.1:n.545+9T>A p.? p.? 7 7 9 5' 79.3529 8.77984 0.976494 I.77 79.3529 8.77984 0.976494 1.03761 0 transversion T A T>A 0.016 0.367 187 PASS . . . . . . . . . . . . . . . . 0.13157895 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 38.0 . . INTRON(MODIFIER||||FAM230B|Non-coding_transcript|NON_CODING|NR_108107|) . . . . . . . -0.3541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intergenic ncRNA_intronic . . . @ . . . 0.46 0.41 182 ENSG00000215498 . FAM230B . dist\x3d53259\x3bdist\x3d2649 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-187 . . . . . . . . . . . . rs62231344 rs62231344 rs62231344 rs62231344 1 1538 10 1/0 0,255,255 +rs771668548 22 21576408 A C - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution missense exon GRCh37 21576408 21576408 Chr22(GRCh37):g.21576408A>C 260 260 NM_001351304.1:c.260T>G p.Val87Gly p.Val87Gly 7 137181 -42 5' 32.1342 0 0 0 32.1342 0 0 0 0 rs771668548 yes no Frequency 1 A 0.000000 0 0.000034 0.000000 0.000000 0.000000 0.000000 0.000000 0.000079 0.000000 0.000000 0.000079 3 0 0 0 0 0 3 0 0 89408 7980 13698 3524 6986 9516 38134 7180 2390 0.333333 0.000000 0.000000 0.000000 0.000000 0.000000 0.333333 0.000000 0.000000 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 57 Exomes transversion T G T>G 0.992 2.546 V Val GTT 0.178 G Gly GGT 0.162 87 13 1 -3 -3 -6 0 0.74 5.IX 9 84 3 109 C0 228.86 0.00 Tolerated 1 II.83 188 PASS . . . . . . . . . . . . . . . . 0.12946428 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.067 . @ . . . . . 3 0.003 . . 224.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . -1.2617 -1.049 -1.262 c . . . . . 5.532e-05 . . . . . . . . . . . 0 0.0003 0 0 0 0.0005 0 0 nonsynonymous_SNV . . 0.008 . . exonic intergenic intergenic . . 0.271 @ . . . . . . ENSG00000133475 . . . dist\x3d12636\x3bdist\x3d60306 dist\x3d29963\x3bdist\x3d60306 0.000 0.058 . . . . . . . . . 0 . . . . . . T 0.452 0.022 . . 37 . 0.001 . . 0.372 . . . . 0.364 . . . . . . . . . . . . . . . 0.000 . . . . . . 0 . . . . . . . . . . . . . 0.010 . . . . . 0.290 . 0.256 . LowAF 1 rs771668548 . . . . . . . . . . . . 7.953 . . II.23 II.23 . 1.000000 . . . . . . 0.056 . . II.23 0 3.355e-05 0 0 0 0 7.867e-05 0 0 . . . . . . . . . . 0.246 . 0.284 0.284000 . . 1.000000 . . 1.0E-188 1.000 0.715 . 0.291 0.963 . 0.662 . 0.105 0.284 -0.253 . . . . . 1 1538 10 1/0 0,194,255 +. 22 21576418 C T - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution missense exon GRCh37 21576418 21576418 Chr22(GRCh37):g.21576418C>T 250 250 NM_001351304.1:c.250G>A p.Gly84Ser p.Gly84Ser 7 137181 -52 5' 32.1342 0 0 0 32.1342 0 0 0 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000027 0.000000 0.000000 0.000027 1 0 0 0 0 0 1 0 0 87572 7652 13702 3464 7554 9522 36662 6664 2352 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 58 Exomes transition G A G>A 1.000 3.999 G Gly GGC 0.342 S Ser AGC 0.243 84 13 12 Baker's yeast 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 206.04 29.56 Deleterious 0 II.83 183 PASS . . . . . . . . . . . . . . . . 0.11981567 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.670 . @ . . . . . 3 0.570 . . 217.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.2417 0.091 0.242 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . 0.211 . . exonic intergenic intergenic . . 0.271 @ . . . . . . ENSG00000133475 . . . dist\x3d12646\x3bdist\x3d60296 dist\x3d29973\x3bdist\x3d60296 0.133 0.171 . . . . . . . . . 0 . . . . . . D 0.559 0.035 . . 37 . 0.556 . . 0.673 . . . . 0.503 . . . . . . . . . . . . . . . 0.837 . . . . . . 0 . . . . . . . . . . . . . 0.614 . . . . . 0.418 . 0.712 . LowAF 0.01 . . . . . . . . . . . . . 10.1557 . . II.23 II.23 . 0.010000 . . . . . . 0.418 . . II.23 0 1.142e-05 0 0 0 0 2.728e-05 0 0 . . . . . . . . . . 0.372 . 1.256 1.256000 . . 0.010000 . . 1.0E-183 1.000 0.715 . 0.344 1.000 . 0.662 . 0.105 1.256 0.821 . . . . . 1 1538 10 1/0 0,195,255 +. 22 21583205 C T - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution 5'UTR GRCh37 21583205 21583205 Chr22(GRCh37):g.21583205C>T -400 -400 NM_001351304.1:c.-400G>A p.? p.? 2 137181 -157 5' 81.8924 9.08182 0.982295 0 81.8924 9.08182 0.982295 0 0 transition G A G>A 0.969 0.932 195 PASS . . . . . . . . . . . . . . . . 0.14814815 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 54.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.5508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d1279\x3bdist\x3d39245 dist\x3d19433\x3bdist\x3d53509 dist\x3d36760\x3bdist\x3d53509 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21583210 G A - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution 5'UTR GRCh37 21583210 21583210 Chr22(GRCh37):g.21583210G>A -405 -405 NM_001351304.1:c.-405C>T p.? p.? 2 137181 -162 5' 81.8924 9.08182 0.982295 0 81.8924 9.08182 0.982295 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 636 148 12 12 4 0 380 62 18 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 165 Genomes transition C T C>T 0.969 -0.602 196 PASS . . . . . . . . . . . . . . . . 0.1509434 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 53.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.1039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d1284\x3bdist\x3d39240 dist\x3d19438\x3bdist\x3d53504 dist\x3d36765\x3bdist\x3d53504 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs796540513 22 21583246 C T - GGT2 4251 Gamma-glutamyltransferase 2 NM_001351304.1 -1 2583 1725 NP_001338233.1 substitution 5'UTR GRCh37 21583246 21583246 Chr22(GRCh37):g.21583246C>T -441 -441 NM_001351304.1:c.-441G>A p.? p.? 2 137181 182 3' 82.27 XII.22 0.994352 XI.83 82.27 XII.22 0.994352 XI.83 0 rs796540513 no no 0 C 0.000000 0 0.001684 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.007177 0.000000 0.007177 3 0 0 0 0 0 0 3 0 1782 368 34 18 22 0 870 418 52 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 RF 99 Genomes transition G A G>A 0.835 0.851 192 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 42.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . 0.4993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intergenic intergenic intergenic . . . @ . . . . . . . . . dist\x3d1320\x3bdist\x3d39204 dist\x3d19474\x3bdist\x3d53468 dist\x3d36801\x3bdist\x3d53468 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0017 0 0 0 0.0072 0 0 . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21645020 C T - POM121L8P 35446 POM121 transmembrane nucleoporin-like 8 pseudogene NR_024583.1 1 7716 0 substitution exon GRCh37 21645020 21645020 Chr22(GRCh37):g.21645020C>T 2266 2266 NR_024583.1:n.2266C>T 5 38 3' 83.7645 7.35766 0.924892 5.54189 83.7645 7.35766 0.924892 5.44967 0 Cryptic Acceptor Strongly Activated 21645029 9.95245 0.250315 86.6746 X.16 0.50383 89.3865 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 176 132 10 0 8 0 18 8 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 351 Genomes transition C T C>T 0.031 0.528 210 PASS . . . . . . . . . . . . . . . . 0.1891892 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 37.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R756C|POM121L8P|Non-coding_transcript|NON_CODING|NR_024583|NR_024583.ex.5) . . . . . . . -0.2351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . downstream ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000169662 POM121L8P POM121L8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 21645840 G C - POM121L8P 35446 POM121 transmembrane nucleoporin-like 8 pseudogene NR_024583.1 1 7716 0 substitution exon GRCh37 21645840 21645840 Chr22(GRCh37):g.21645840G>C 3086 3086 NR_024583.1:n.3086G>C 5 -313 5' 64.1828 3.1876 0.142816 2.39227 64.1828 3.1876 0.142816 2.39227 0 transversion G C G>C 0.157 -2.781 249 PASS . . . . . . . . . . . . . . . . 0.31034482 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 29.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G1029A|POM121L8P|Non-coding_transcript|NON_CODING|NR_024583|NR_024583.ex.5) . . . . . . . -1.4071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.4 0.25 182 ENSG00000169662 POM121L8P POM121L8P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . ENST00000360625 . . . 0.000000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -2.662 -2.662000 . . 0.000000 . . 1.0E-249 . . . . . . . . . -2.662 . . rs140438 rs140438 rs140438 rs140438 1 1538 10 1/0 0,255,255 +rs5763761 (chr22:21679248 A/C) 22 21679248 A C Not on a known gene +. (chr22:21680955 C/G) 22 21680955 C G Not on a known gene +. 22 21739332 AGAG A - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 deletion in-frame exon GRCh37 21739336 21739338 Chr22(GRCh37):g.21739336_21739338del 1189 1191 NM_001128635.1:c.1189_1191del p.Glu397del p.Glu397del 1 612700 rs201364657 yes no Frequency/1000G 2 0.000000 0 GAG 255 Pass . 0.01 0.0028 0.02 0.02 . . . . . . ENSG00000196934:ENST00000434111:exon1:c.1186_1188del:p.396_396del RIMBP3C:uc002zuq.4:exon1:c.1186_1188del:p.396_396del . . . 0.6875 . . . 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 16 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000196934 RIMBP3C . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201364657 . . . . . . ID\x3dCOSM1415057\x3bOCCURENCE\x3d1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs201364657 rs201364657 1 1538 10 1.I 0,11,16 +. 22 21740118 C G - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution synonymous exon GRCh37 21740118 21740118 Chr22(GRCh37):g.21740118C>G 1971 1971 NM_001128635.1:c.1971C>G p.Ala657= p.Ala657Ala 1 612700 transversion C G C>G 0.000 -2.781 A Ala GCC 0.403 A Ala GCG 0.107 657 253 PASS . . . . . . . . . . . ENSG00000196934:ENST00000434111:exon1:c.C1971G:p.A657A RIMBP3C:uc002zuq.4:exon1:c.C1971G:p.A657A . . . 0.33333334 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . -0.5462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000196934 RIMBP3C . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-253 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201550629 22 21741935 A C - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution missense exon GRCh37 21741935 21741935 Chr22(GRCh37):g.21741935A>C 3788 3788 NM_001128635.1:c.3788A>C p.Glu1263Ala p.Glu1263Ala 1 612700 rs201550629 yes no Frequency/1000G 2 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.882 2.223 E Glu GAA 0.417 A Ala GCA 0.226 1263 11 6 Megabat -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 231.61 17.80 Tolerated 0.12 III.14 good 8.573E-2 0.167 255 PASS 0.07 0.05 0.04 0.08 0.02 . . . . . . ENSG00000196934:ENST00000434111:exon1:c.A3788C:p.E1263A RIMBP3C:uc002zuq.4:exon1:c.A3788C:p.E1263A . . . 0.42857143 . . @ 24 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.434 . @ . . . . . 1 0.285 . . 56.0 . . . . . . . . . . -0.4854 -0.498 -0.485 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.359 @ . . . 0.49 0.34 182 ENSG00000196934 RIMBP3C . . . . 0.001 0.078 . . . . . . . Uncertain_significance . 0 . 0.083 . . . . T 0.342 0.014 . . 37 . 0.007 . . 0.094 . . . 0.456 0.229 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.376 . . 0.319 . . . . . . 0 . . . . . . 0.301 . 0.168 . HET 0.01 rs201550629 . . . . . . . 0.050824175824175824 0.07317073170731707 0.03591160220994475 0.07867132867132867 0.022427440633245383 8.1515 . . III.22 III.22 . 0.600000 A6NNM3 . . . . . 0.239 . . III.22 . . . . . . . . . . . . . . . . . . . 0.246 . 1.481 1.481000 . . 0.600000 . . 1.0E-255 0.004 0.165 . 0.178 0.185 . 0.394 . 0.312 1.481 1.062 0.08 . . rs201550629 rs201550629 1 1538 10 1/0 0,255,255 +. 22 21741964 A G - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution missense exon GRCh37 21741964 21741964 Chr22(GRCh37):g.21741964A>G 3817 3817 NM_001128635.1:c.3817A>G p.Ser1273Gly p.Ser1273Gly 1 612700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition A G A>G 0.000 -0.440 S Ser AGC 0.243 G Gly GGC 0.342 1273 11 7 Megabat 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 243.69 III.24 Tolerated 0.16 III.14 good 1.612E-1 0.02428 255 PASS . . . . . . . . . . . ENSG00000196934:ENST00000434111:exon1:c.A3817G:p.S1273G RIMBP3C:uc002zuq.4:exon1:c.A3817G:p.S1273G . . . 0.40677965 . . @ 24 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.112 . . 59.0 . . . . . . . . . . -1.0334 -1.146 -1.033 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.077 @ . . . 0.39 0.31 182 ENSG00000196934 RIMBP3C . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.043 . . . . T 0.194 0.007 . . 37 . 0.148 . . 0.249 . . . 0.346 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.289 . . 0.250 . . . . . . 0 . . . . . . 0.083 . 0.016 . HET 0.01 . . . . . . . . . . . . . III.01 . . III.22 -1.71 . 0.190000 A6NNM3 . . . . . 0.016 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.284 -0.284000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.185 0.001 . 0.096 . 0.312 -0.284 0.126 . rs2242315 rs2242315 rs2242315 rs2242315 1 1538 10 1/0 0,255,255 +rs200259378 22 21742066 C A - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution missense exon GRCh37 21742066 21742066 Chr22(GRCh37):g.21742066C>A 3919 3919 NM_001128635.1:c.3919C>A p.Pro1307Thr p.Pro1307Thr 1 612700 rs200259378 yes no Frequency/1000G 2 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.016 -1.005 P Pro CCT 0.283 T Thr ACT 0.243 1307 11 4 White-tuffed-ear marmoset -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 233.89 0.00 Tolerated 0.31 III.14 good 6.038E-1 0.3248 255 PASS 0.57 0.75 0.8 0.89 0.74 . . . . . . ENSG00000196934:ENST00000434111:exon1:c.C3919A:p.P1307T RIMBP3C:uc002zuq.4:exon1:c.C3919A:p.P1307T . . . 0.7032967 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.202 . @ . . . . . 1 0.133 . . 91.0 . . . . . . . . . . -1.2559 -1.347 -1.256 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.044 @ . . . 0.34 0.31 182 ENSG00000196934 RIMBP3C . . . . 0.000 0.042 . . . . . . . Uncertain_significance . 0 . 0.074 . . . . T 0.113 0.005 . . 37 . 0.000 . . 0.167 . . . 0.339 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.219 . . 0.170 . . . . . . 0 . . . . . . 0.173 . 0.056 . HET 0.06 rs200259378 . . . . . . . 0.7504578754578755 0.5691056910569106 0.8038674033149171 0.8881118881118881 0.7387862796833773 V.43 . . 3.IX -3.46 . 0.360000 A6NNM3 . . . . . 0.047 . . . . . . . . . . . . . . . . . . . . . . 0.246 . -0.734 -0.734000 . . 0.360000 . . 1.0E-255 0.000 0.063 . 0.153 0.006 . 0.024 . 0.082 -0.734 -0.392 0.89 rs2242314 rs2242314 rs2242314 rs200259378 1 1538 10 1/0 0,255,255 +rs879996719 22 21742245 C T - RIMBP3B 33891 RIMS binding protein 3B NM_001128635.1 1 5419 4920 NP_001122107.1 substitution synonymous exon GRCh37 21742245 21742245 Chr22(GRCh37):g.21742245C>T 4098 4098 NM_001128635.1:c.4098C>T p.Gly1366= p.Gly1366Gly 1 612700 rs879996719 no no 0 C 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.299 0.286 G Gly GGC 0.342 G Gly GGT 0.162 1366 255 PASS . . . . . . . . . . . ENSG00000196934:ENST00000434111:exon1:c.C4098T:p.G1366G RIMBP3C:uc002zuq.4:exon1:c.C4098T:p.G1366G . . . 0.6818182 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . 0.0274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.34 0.23 182 ENSG00000196934 RIMBP3C . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs364215 rs364215 rs364215 rs364215 1 1538 10 1/0 0,255,255 +rs879200392 22 21822385 T C - TMEM191C 33601 Transmembrane protein 191C NM_001207052.1 1 1307 1044 NP_001193981.1 substitution intron GRCh37 21822385 21822385 Chr22(GRCh37):g.21822385T>C 421-56 421-56 NM_001207052.1:c.421-56T>C p.? p.? 3 2 -56 3' 75.069 4.943 0.388027 1.25149 75.069 4.943 0.388027 0 0 rs879200392 no no 0 T 0.000000 0 transition T C T>C 0.000 -1.570 111 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 25.0 . . . . . . . . . . -0.1592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic UTR3 intronic . . . @ . . . . . . ENSG00000206140 TMEM191C TMEM191C . uc002zut.1:c.*239T>C . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . . . 1 1538 10 1/0 90,2,0 +rs201052475 22 21900729 G A - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21900729 21900729 Chr22(GRCh37):g.21900729G>A 4537 4537 NM_001128633.1:c.4537C>T p.Arg1513Cys p.Arg1513Cys 1 612701 Src homology-3 domain rs201052475 no no 0 G 0.000000 0 0.000916 0.000000 0.000000 0.000000 0.000000 0.000000 0.011494 0.000000 0.000000 0.011494 4 0 0 0 0 0 4 0 0 4366 24 724 10 1036 1956 348 150 118 0.000916 0.000000 0.000000 0.000000 0.000000 0.000000 0.011494 0.000000 0.000000 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.976 1.255 R Arg CGC 0.190 C Cys TGC 0.552 1513 11 1 -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 242.09 79.30 Deleterious 0.01 III.14 bad 1.695E-4 0.008852 255 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.C4537T:p.R1513C . . . 0.8181818 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.493 . @ . . . . . 1 0.920 . . 33.0 . . . . . . . . . . -0.2196 -0.239 -0.220 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.301 . . exonic exonic exonic . . 0.263 @ . . . 0.43 0.36 182 ENSG00000183246 RIMBP3C . . . . 0.007 0.114 . . . . . . . Uncertain_significance . 0 . 0.311 . . . . D 0.700 0.067 . . 37 . 0.126 . . 0.172 . . . 0.112 0.253 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.514 . . 0 0 0 0 0 0 . 0.537 . . 0.373 . . . . . . 0 0.473 . . . . . 0.240 . 0.318 . HOM 0.04 rs201052475 . . . . . . ID\x3dCOSM4004857\x3bOCCURENCE\x3d1(urinary_tract) . . . . . 7.0308 0.25 . III.28 II.13 . 0.020000 A6NJZ7 . . . . . 0.416 . . II.13 0 0.0009 0 0 0 0 0.0120 0 0 0 0 0 . 0 0 0 . . . 0.133 . 1.825 1.825000 . . 0.020000 . . 1.0E-255 0.004 0.165 . 0.140 0.521 . 0.188 . 0.653 1.825 -0.045 . rs469096 rs469096 rs469096 rs201052475 1 1538 10 1/0 0,255,255 +. 22 21900815 C T - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21900815 21900815 Chr22(GRCh37):g.21900815C>T 4451 4451 NM_001128633.1:c.4451G>A p.Arg1484Lys p.Arg1484Lys 1 612701 Src homology-3 domain 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2040 6 444 0 384 1012 108 10 76 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 50 Exomes transition G A G>A 1.000 3.434 R Arg AGG 0.207 K Lys AAG 0.575 1484 11 3 Macaque 3 2 3 0.65 0.33 10.V 11.III 124 119 26 C0 242.52 XII.95 Tolerated 0.25 III.14 good 4.687E-1 0.09803 225 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.G4451A:p.R1484K . . . 0.23076923 . . @ 15 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.561 . @ . . . . . 1 0.463 . . 65.0 . . . . . . . . . . -0.2279 -0.078 -0.228 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.288 . . exonic exonic exonic . . 0.365 @ . . . 0.54 0.43 182 ENSG00000183246 RIMBP3C . . . . 0.954 0.281 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . T 0.331 0.014 . . 37 . 0.185 . . 0.195 . . . 0.065 0.236 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.080 . . 0 0 0 0 0 0 . 0.144 . . 0.154 . . . . . . 0 0.531 . . . . . 0.420 . 0.193 . HET 0.04 . . . . . . . . . . . . . 10.1846 . . III.28 III.28 . 0.040000 A6NJZ7 . . . . . 0.697 . . III.28 0 0 0 . 0 0 0 0 0 . . . . . . . . . . 0.133 . 1.825 1.825000 . . 0.040000 . . 1.0E-225 1.000 0.715 . 0.444 0.700 . 0.676 . 0.430 1.825 0.871 . rs468931 rs468931 rs468931 rs468931 1 1538 10 1/0 0,255,255 +rs879976469 22 21901095 G A - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21901095 21901095 Chr22(GRCh37):g.21901095G>A 4171 4171 NM_001128633.1:c.4171C>T p.Arg1391Trp p.Arg1391Trp 1 612701 rs879976469 no no 0 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 2 4 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -0.360 R Arg CGG 0.207 W Trp TGG 1.000 1391 11 2 Rat -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C0 353.86 0.00 Tolerated 0.12 III.48 good 8.407E-1 0.1106 111 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.C4171T:p.R1391W . . . 1.0 . . @ 8 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.049 . . 8.0 . . . . . . . . . . -1.7015 -1.685 -1.702 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.233 . . exonic exonic exonic . . 0.151 @ . . . 0.41 0.42 182 ENSG00000183246 RIMBP3C . . . . 0.002 0.088 . . . . . . . Uncertain_significance . 0 . 0.062 . . . . D 0.703 0.068 . . 37 . 0.095 . . 0.311 . . . 0.003 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.000 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 0 0.010 . . . . . 0.183 . 0.157 . HOM 0.15 . . . . . . . . . . . . . V.11 . . II.62 0.322 . 0.250000 A6NJZ7 . . . . . 0.004 . . . . 0 . . 0 . . . 0 . . . . . . . . . . 0.133 . -0.470 -0.470000 . . 0.250000 . . 1.0E-111 0.000 0.063 . 0.016 0.001 . 0.174 . 0.047 -0.470 -0.386 . rs861802 rs861802 rs861802 rs861802 1 1538 255 1.I 0,0,255 +rs364215 22 21901168 G A - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution synonymous exon GRCh37 21901168 21901168 Chr22(GRCh37):g.21901168G>A 4098 4098 NM_001128633.1:c.4098C>T p.Gly1366= p.Gly1366Gly 1 612701 rs364215 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 8 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1899 Exomes transition C T C>T 0.016 0.448 G Gly GGC 0.342 G Gly GGT 0.162 1366 255 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.C4098T:p.G1366G . . . 0.75 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 44.0 . . . . . . . . . . -0.1416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.42 0.37 182 ENSG00000183246 RIMBP3C . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs364215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs364215 rs364215 rs364215 rs364215 1 1538 10 1/0 0,255,255 +rs2242314 22 21901347 G T - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21901347 21901347 Chr22(GRCh37):g.21901347G>T 3919 3919 NM_001128633.1:c.3919C>A p.Pro1307Thr p.Pro1307Thr 1 612701 rs2242314 yes no Frequency/1000G 2 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 22 0 0 0 2 20 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.173 -0.924 P Pro CCT 0.283 T Thr ACT 0.243 1307 11 4 White-tuffed-ear marmoset -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 233.89 0.00 Tolerated 0.31 III.14 good 6.038E-1 0.3248 255 PASS 0.57 0.76 0.83 0.83 0.79 . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.C3919A:p.P1307T . . . 0.7586207 . . @ 66 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.099 . @ . . . . . 1 0.178 . . 87.0 . . . . . . . . . . -1.3429 -1.477 -1.343 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.215 . . exonic exonic exonic . . 0.024 @ . . . 0.44 0.35 182 ENSG00000183246 RIMBP3C . . . . 0.064 0.153 . . . . . . . Uncertain_significance . 0 . 0.074 . . . . D 0.536 0.031 . . 37 . 0.000 . . 0.215 . . . 0.339 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.262 . . 0 0 0 0 0 0 . 0.219 . . 0.170 . . . . . . 0 0.421 . . . . . 0.114 . 0.065 . HOM 0.06 rs2242314 . . . . . . . 0.7564102564102564 0.5650406504065041 0.8342541436464088 0.8286713286713286 0.7889182058047494 IV.35 . . 2.VIII -5.43 . 0.310000 A6NJZ7 . . . . . 0.059 . . . . 0 . . 0 . . . 0 . . . . . . . . . . 0.246 . -1.310 -1.310000 . . 0.310000 . . 1.0E-255 0.000 0.063 . 0.157 0.006 . 0.028 . 0.114 -1.310 -0.327 0.83 rs2242314 rs2242314 rs2242314 rs199678571 1 1538 10 1/0 0,255,255 +. 22 21901449 T C - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21901449 21901449 Chr22(GRCh37):g.21901449T>C 3817 3817 NM_001128633.1:c.3817A>G p.Ser1273Gly p.Ser1273Gly 1 612701 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 1322 Exomes transition A G A>G 0.000 -0.763 S Ser AGC 0.243 G Gly GGC 0.342 1273 11 7 Megabat 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 243.69 III.24 Tolerated 0.16 III.14 good 1.612E-1 0.02428 255 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.A3817G:p.S1273G . . . 0.40625 . . @ 26 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.041 . @ . . . . . 1 0.238 . . 64.0 . . . . . . . . . . -1.1006 -1.232 -1.101 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.253 . . exonic exonic exonic . . 0.062 @ . . . 0.45 0.47 182 ENSG00000183246 RIMBP3C . . . . 0.004 0.105 . . . . . . . Uncertain_significance . 0 . 0.043 . . . . D 0.707 0.069 . . 37 . 0.174 . . 0.206 . . . 0.346 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.397 . . 0 0 0 0 0 0 . 0.289 . . 0.250 . . . . . . 0 0.486 . . . . . 0.084 . 0.018 . HET 0.01 . . . . . . . . . . . . . III.46 . . 2.VIII -2.4 . 0.190000 A6NJZ7 . . . . . 0.036 . . . . 0 0 . . . . . . . . . . . . . . . . 0.246 . -0.473 -0.473000 . . 0.190000 . . 1.0E-255 0.000 0.063 . 0.148 0.001 . 0.097 . 0.217 -0.473 0.079 . rs2242315 rs2242315 rs2242315 rs2242315 1 1538 10 1/0 0,255,255 +. 22 21901478 T G - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 substitution missense exon GRCh37 21901478 21901478 Chr22(GRCh37):g.21901478T>G 3788 3788 NM_001128633.1:c.3788A>C p.Glu1263Ala p.Glu1263Ala 1 612701 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 1314 Exomes transversion A C A>C 0.921 1.981 E Glu GAA 0.417 A Ala GCA 0.226 1263 11 6 Megabat -1 -1 -2 0.92 0 12.III 8.I 83 31 107 C0 231.61 17.80 Tolerated 0.12 III.14 good 8.573E-2 0.167 255 PASS . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.A3788C:p.E1263A . . . 0.5 . . @ 30 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.215 . @ . . . . . 1 0.380 . . 60.0 . . . . . . . . . . -0.4556 -0.458 -0.456 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.257 . . exonic exonic exonic . . 0.317 @ . . . . . . ENSG00000183246 RIMBP3C . . . . 0.057 0.151 . . . . . . . Uncertain_significance . 0 . 0.083 . . . . D 0.534 0.031 . . 37 . 0.158 . . 0.118 . . . 0.456 0.232 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.571 . . 0 0 0 0 0 0 . 0.376 . . 0.319 . . . . . . 0 0.187 . . . . . 0.255 . 0.192 . HET 0.01 . . . . . . . . . . . . . VII.18 . . 2.VIII 2.VIII . 0.580000 A6NJZ7 . . . . . 0.301 . . 2.VIII . 0 0 . . . . . . . . . . . . . . . . 0.246 . 1.279 1.279000 . . 0.580000 . . 1.0E-255 0.998 0.411 . 0.192 0.105 . 0.578 . 0.663 1.279 0.991 . . . . . 1 1538 10 1/0 0,255,255 +. 22 21904074 TCTC T - RIMBP3C 33892 RIMS binding protein 3C NM_001128633.1 -1 5796 4920 NP_001122105.1 deletion in-frame exon GRCh37 21904075 21904077 Chr22(GRCh37):g.21904075_21904077del 1189 1191 NM_001128633.1:c.1189_1191del p.Glu397del p.Glu397del 1 612701 GAG 255 Pass . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.1189_1191del:p.397_397del . . . 0.52 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000183246 RIMBP3C . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,28 +. 22 21904074 TCTC T - UBE2L3 12488 Ubiquitin-conjugating enzyme E2L 3 NM_001256355.1 1 3007 639 NP_001243284.1 deletion intron GRCh37 21904078 21904080 Chr22(GRCh37):g.21904078_21904080del 201+139 201+141 NM_001256355.1:c.201+139_201+141del p.? p.? 1 1 603721 139 5' 76.9891 6.35803 0.599511 4.72321 76.9891 6.35803 0.599511 4.72321 0 CTC 255 Pass . . . . . . . . . . . . RIMBP3C:uc002zuy.4:exon1:c.1189_1191del:p.397_397del . . . 0.52 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 25 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonframeshift_deletion nonframeshift_deletion nonframeshift_deletion . . . exonic exonic exonic . . . . . . . . . . ENSG00000183246 RIMBP3C . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,28 +rs4050831 22 22661395 C T - BMS1P20 49153 BMS1 pseudogene 20 NR_027293.1 1 2011 0 substitution intron GRCh37 22661395 22661395 Chr22(GRCh37):g.22661395C>T 475-76 475-76 NR_027293.1:n.475-76C>T p.? p.? 5 4 -76 3' 79.4084 X.86 0.949528 13.8113 79.4084 X.86 0.949528 13.7643 0 rs4050831 no no 0 0.000000 0 0.000032 0.000115 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000115 1 1 0 0 0 0 0 0 0 30870 8692 832 302 1612 0 14962 3488 982 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 48 Genomes transition C T C>T 0.961 -0.279 176 PASS . . . . . . . . . . . . . . . . 0.105820104 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 189.0 . . INTRON(MODIFIER||||BMS1P20|Non-coding_transcript|NON_CODING|NR_027293|) . . . . . . . 0.3077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.1 0.06 182 . . BMS1P20 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs4050831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 3.239e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . rs3882275 rs3882275 rs3882275 rs3882275 1 1538 10 1/0 0,199,255 +rs574597848 22 22661517 G A - BMS1P20 49153 BMS1 pseudogene 20 NR_027293.1 1 2011 0 substitution exon GRCh37 22661517 22661517 Chr22(GRCh37):g.22661517G>A 521 521 NR_027293.1:n.521G>A 5 47 3' 79.4084 X.86 0.949528 13.8113 79.4084 X.86 0.949528 13.1724 0 rs574597848 yes no Frequency/1000G 2 0.000599 A 3 0.000599 0.000000 0.000000 0.003000 0.000000 0.000000 0.001617 0.001671 0.005747 0.000000 0.001585 0.000000 0.001262 0.002813 0.000000 0.005747 43 12 4 0 2 0 17 8 0 26594 7182 696 292 1262 0 13468 2844 850 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 12 4 0 2 0 17 8 0 0 0 0 0 0 0 0 0 0 RF 53 Genomes transition G A G>A 0.992 1.658 214 PASS . . . . . . 0.0006 . 0.003 . . . . . . . 0.19672132 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 122.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R174Q|BMS1P20|Non-coding_transcript|NON_CODING|NR_027293|NR_027293.ex.5) . . . . . . . 0.6594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0006 . . . 0.22 0.22 182 . . BMS1P20 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs574597848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0016 0.0057 0 0.0016 0.0028 0.0013 0 . . . . . . . . . . . 1.0E-214 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,227,255 +rs139643222 (chr22:22730851 A/G) 22 22730851 A G Not on a known gene +rs149708215 (chr22:22730852 T/C) 22 22730852 T C Not on a known gene +rs200803951 (chr22:22730853 G/C) 22 22730853 G C Not on a known gene +rs776411706 (chr22:22735316 A/G) 22 22735316 A G Not on a known gene +rs372395638 (chr22:22782069 C/T) 22 22782069 C T Not on a known gene +rs148128345 22 22989594 G C - GGTLC2 18596 Gamma-glutamyltransferase light chain 2 NM_001282879.1 1 978 759 NP_001269808.1 substitution missense exon GRCh37 22989594 22989594 Chr22(GRCh37):g.22989594G>C 446 446 NM_001282879.1:c.446G>C p.Arg149Pro p.Arg149Pro 4 612339 142 3' 75.9841 7.96602 0.446839 X.68 75.9841 7.96602 0.446839 X.68 0 Cryptic Acceptor Weakly Activated 22989611 6.74062 0.033655 71.6956 7.08513 0.047569 71.6956 rs148128345 yes no Frequency 1 0.000000 0 0.000145 0.000042 0.000174 0.000000 0.000000 0.000780 0.000063 0.000039 0.000000 0.000780 40 1 6 0 0 24 8 1 0 276692 24010 34414 10136 18856 30752 126282 25788 6454 0.000014 0.000000 0.000058 0.000000 0.000000 0.000065 0.000000 0.000000 0.000000 2 0 1 0 0 1 0 0 0 36 1 4 0 0 22 8 1 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes 8599 4406 13005 1 0 1 0.000116279 0 7.68876e-05 0.000116279 0 7.68876e-05 87 transversion G C G>C 0.142 -0.602 R Arg CGT 0.082 P Pro CCT 0.283 149 12 1 -2 -2 -3 0.65 0.39 10.V 8 124 32.5 103 C0 353.86 0.00 Not scored 0.0 0.0 176 PASS . . . . . . . . . . . . GGTLC2:uc010gts.2:exon3:c.G446C:p.R149P GGTLC2:NM_001282879:exon4:c.G446C:p.R149P . . 0.10526316 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 76.0 . . . . 0.0001 0.0001 . 0.0001 0.0001 . -0.3994 . . . . . . . . 2.526e-04 . . . 9.649e-05 0.0003 8.661e-05 0 0.0003 7.139e-05 0 0.0012 0.0001 0.0003 8.93e-05 0 0.0003 0.0001 0 0.0012 . nonsynonymous_SNV nonsynonymous_SNV . . . intronic exonic exonic . . . @ . . . 0.19 0.17 182 ENSG00000100121 GGTLC2 GGTLC2 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0.13 rs148128345 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 6.536e-05 0.0002 0.0002 0 0 4.485e-05 6.288e-05 0 0.0008 0 3.238e-05 0 0 0 0 6.688e-05 0 . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . 0.0001 . . rs148128345 rs148128345 1 1538 10 1/0 0,238,255 +rs750997223 22 22989602 C T - GGTLC2 18596 Gamma-glutamyltransferase light chain 2 NM_001282879.1 1 978 759 NP_001269808.1 substitution missense exon GRCh37 22989602 22989602 Chr22(GRCh37):g.22989602C>T 454 454 NM_001282879.1:c.454C>T p.Pro152Ser p.Pro152Ser 4 612339 150 3' 75.9841 7.96602 0.446839 X.68 75.9841 7.96602 0.446839 X.68 0 Cryptic Acceptor Strongly Activated 22989611 6.74062 0.033655 71.6956 7.00227 0.051228 74.4074 rs750997223 yes no Frequency 1 0.000000 0 0.000011 0.000000 0.000029 0.000000 0.000000 0.000000 0.000000 0.000039 0.000155 0.000039 3 0 1 0 0 0 0 1 1 276728 24014 34416 10132 18856 30782 126278 25794 6456 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.961 1.335 P Pro CCT 0.283 S Ser TCT 0.185 152 12 1 -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 353.86 0.00 Not scored 0.0 0.0 178 PASS . . . . . . . . . . . . GGTLC2:uc010gts.2:exon3:c.C454T:p.P152S GGTLC2:NM_001282879:exon4:c.C454T:p.P152S . . 0.10958904 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 73.0 . . . . . . . . . . -0.4557 . . . . . . . . 4.736e-05 . . . 0 1.105e-05 0 0 0.0003 0 0 0 0 4.713e-05 0 0 0.0002 7.368e-05 0 0 . nonsynonymous_SNV nonsynonymous_SNV . . . intronic exonic exonic . . . @ . . . . . . ENSG00000100121 GGTLC2 GGTLC2 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF 1 rs750997223 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 8.136e-06 0 0 0 4.484e-05 0 0.0002 0 0 3.236e-05 0.0012 0 0 0 0 0 . . . . . . . . . . . 1.0E-178 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs62225862 22 22989680 G A - GGTLC2 18596 Gamma-glutamyltransferase light chain 2 NM_001282879.1 1 978 759 NP_001269808.1 substitution missense exon GRCh37 22989680 22989680 Chr22(GRCh37):g.22989680G>A 532 532 NM_001282879.1:c.532G>A p.Val178Met p.Val178Met 4 612339 -81 5' 79.7784 8.06623 0.846676 8.56696 79.7784 8.06623 0.846676 8.56696 0 rs62225862 yes no Frequency/1000G 2 0.000000 0 0.000200 0.000800 0.000000 0.000000 0.000000 0.000000 0.000025 0.000199 0.000060 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000199 6 3 2 0 0 0 1 0 0 244464 15062 33542 9780 17178 30724 110486 22256 5436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 3 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 102 Exomes transition G A G>A 0.992 -0.198 V Val GTG 0.468 M Met ATG 1.000 178 12 7 Frog 1 1 1 0 0 5.IX 5.VII 84 105 21 C0 30.92 0.00 Deleterious 0.03 III.15 195 PASS . . . . . 0.0008 0.0002 . . . . . . . . . 0.14705883 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.160 . @ . . . . . 1 0.148 . . 68.0 . . . . . . . . . . -0.8656 -0.994 -0.866 c . . . . . 2.371e-05 . . . 0.0002 3.512e-05 0 0 0 2.548e-05 0 0 0.0002 2.983e-05 0 0 0 1.939e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.073 . . exonic exonic exonic . . . 0.0002 . . . 0.13 0.15 182 ENSG00000100121 GGTLC2 GGTLC2 . . . 0.007 0.115 . . . . . . . Uncertain_significance . 0 . 0.353 . . . . T 0.038 0.002 . . 37 . 0.072 . . 0.248 . . . 0.426 0.245 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.260 . . 0 0 0 0 0 0 . 0.295 . . 0.295 . . . . . . 0 0.450 . . . . . 0.110 . 0.094 . LowAF 0 rs62225862 . . . . . . . . . . . . IV.95 2.68E-4 . . . . 0.060000 . . . . . . 0.156 . . . 0.0002 2.454e-05 5.963e-05 0 0 0 9.051e-06 0 0 . . . . . . . . . . 0.428 . -0.000 -0.000000 . . 0.060000 . . 9.999999999999999E-196 1.000 0.715 . 0.216 . . 0.301 . 0.018 -0.000 . . rs62225862 rs62225862 rs61744982 rs61744982 1 1538 10 1/0 0,247,255 +rs417200 22 24397824 A G - GSTTP1 26930 Glutathione S-transferase theta pseudogene 1 NR_003081.1 -1 698 0 substitution intron GRCh37 24397824 24397824 Chr22(GRCh37):g.24397824A>G 206-1449 206-1449 NR_003081.1:n.206-1449T>C p.? p.? 3 2 -1449 3' 65.0468 5.97413 0.016143 5.72006 65.0468 5.97413 0.016143 5.72006 0 rs417200 yes no Frequency 1 A 0.000000 0 0.002285 0.002657 0.001689 0.005376 0.000000 0.000000 0.002830 0.000000 0.003676 0.005376 45 18 1 1 0 0 23 0 2 19696 6774 592 186 1296 0 8128 2176 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 18 1 1 0 0 23 0 2 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition T C T>C 0.000 -0.844 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||GSTTP2|Non-coding_transcript|NON_CODING|NR_003082|) . . . . . . . -0.4887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.31 182 ENSG00000239334 GSTTP2 GSTTP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs117113776 0.141 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0023 0.0017 0.0054 0 0 0.0028 0.0037 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.14 rs417200 rs417200 rs417200 rs117113776 1 1538 255 1.I 0,0,255 +rs417200 22 24397824 A G - GSTTP2 33606 Glutathione S-transferase theta pseudogene 2 NR_003082.1 -1 2070 0 substitution intron GRCh37 24397824 24397824 Chr22(GRCh37):g.24397824A>G 1362-1449 1362-1449 NR_003082.1:n.1362-1449T>C p.? p.? 3 2 -1449 3' 65.0468 5.97413 0.016143 5.84651 65.0468 5.97413 0.016143 5.84651 0 rs417200 yes no Frequency 1 A 0.000000 0 0.002285 0.002657 0.001689 0.005376 0.000000 0.000000 0.002830 0.000000 0.003676 0.005376 45 18 1 1 0 0 23 0 2 19696 6774 592 186 1296 0 8128 2176 544 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 45 18 1 1 0 0 23 0 2 0 0 0 0 0 0 0 0 0 RF 37 Genomes transition T C T>C 0.000 -0.844 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 33.0 . . INTRON(MODIFIER||||GSTTP2|Non-coding_transcript|NON_CODING|NR_003082|) . . . . . . . -0.4887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.37 0.31 182 ENSG00000239334 GSTTP2 GSTTP2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs117113776 0.141 0.196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0023 0.0017 0.0054 0 0 0.0028 0.0037 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.14 rs417200 rs417200 rs417200 rs117113776 1 1538 255 1.I 0,0,255 +rs3966475 22 24655864 A G - POM121L9P 30080 POM121 transmembrane nucleoporin-like 9, pseudogene NR_003714.1 1 5224 0 substitution intron GRCh37 24655864 24655864 Chr22(GRCh37):g.24655864A>G 2156-1012 2156-1012 NR_003714.1:n.2156-1012A>G p.? p.? 5 4 -1012 3' 72.9572 7.32487 0.513843 3.87527 72.9572 7.32487 0.513843 3.87527 0 rs3966475 no no 0 A 0.000000 0 0.001256 0.001679 0.001348 0.000000 0.002976 0.000000 0.000958 0.000607 0.002227 0.002976 35 13 1 0 4 0 13 2 2 27868 7744 742 280 1344 0 13566 3294 898 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 13 1 0 4 0 13 2 2 0 0 0 0 0 0 0 0 0 RF 36 Genomes transition A G A>G 0.000 -0.521 222 PASS . . . . . . . . . . . . . . . . 0.22727273 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 22.0 . . INTRON(MODIFIER||||POM121L9P|Non-coding_transcript|NON_CODING|NR_003714|) . . . . . . . -0.4167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000128262 POM121L9P POM121L9P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0013 0.0013 0 0.0030 0.0006 0.0010 0.0022 . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs2330834 22 25003821 A G - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25003821 25003821 Chr22(GRCh37):g.25003821A>G -528 -528 NM_001288833.1:c.-428-100A>G p.? p.? 2 1 612346 -100 3' 82.8262 10.1541 0.951119 7.916 82.8262 10.1541 0.951119 7.916 0 rs2330834 no no 0 A 0.000000 0 0.000552 0.000461 0.010766 0.000000 0.001239 0.000000 0.000067 0.000287 0.000000 0.010766 17 4 9 0 2 0 1 1 0 30794 8676 836 302 1614 0 14912 3480 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 4 9 0 2 0 1 1 0 0 0 0 0 0 0 0 0 0 RF 39 Genomes transition A G A>G 0.000 -1.005 255 PASS . . . . . . . . . . . . . . . . 0.37037036 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . 0.1083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.34 0.4 182 . GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2330834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0006 0.0108 0 0.0012 0.0003 6.706e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs2330834 rs2330834 rs2330834 rs2330834 1 1538 10 1/0 0,255,255 +. 22 25003852 GGC G - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 deletion intron GRCh37 25003854 25003855 Chr22(GRCh37):g.25003854_25003855del -495 -494 NM_001288833.1:c.-428-67_-428-66del p.? p.? 2 1 612346 -66 3' 82.8262 10.1541 0.951119 7.916 82.8262 10.1541 0.951119 8.59156 0 rs3033885 no no 0 0.000000 0 0.000162 0.000000 0.005981 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.005981 5 0 5 0 0 0 0 0 0 30794 8706 836 300 1622 0 14870 3486 974 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 38 Genomes CG 255 Pass . . . . . . . . . . . . . . . . 0.42222223 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs3033885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0060 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3033885 rs3033885 rs3033885 rs3033885 1 1538 10 1.I 0,12,37 +rs2330835 22 25003859 G T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25003859 25003859 Chr22(GRCh37):g.25003859G>T -490 -490 NM_001288833.1:c.-428-62G>T p.? p.? 2 1 612346 -62 3' 82.8262 10.1541 0.951119 7.916 82.8262 10.1541 0.951119 7.34404 0 rs2330835 yes no Frequency 1 G 0.000000 0 0.000163 0.000000 0.005995 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.005995 5 0 5 0 0 0 0 0 0 30764 8694 834 302 1622 0 14854 3486 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 37 Genomes transversion G T G>T 0.000 -0.521 255 PASS . . . . . . . . . . . . . . . . 0.4 . . @ 18 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . 0.1701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.35 182 . GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2330835 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0.0060 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 rs2330835 rs2330835 rs2330835 rs2330835 1 1538 10 1/0 0,255,255 +rs2010657 22 25003922 G A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution 5'UTR GRCh37 25003922 25003922 Chr22(GRCh37):g.25003922G>A -427 -427 NM_001288833.1:c.-427G>A p.? p.? 2 612346 2 3' 82.8262 10.1541 0.951119 7.916 82.8262 8.81648 0.936252 6.45559 -0.0491196 New Acceptor Site 25003924 9.54821 0.952478 rs2010657 yes no Frequency 1 G 0.000000 0 0.000355 0.000664 0.000288 0.000000 0.003315 0.000179 0.000044 0.000000 0.000000 0.003315 61 10 7 0 37 4 3 0 0 171932 15050 24266 8370 11162 22398 67498 18512 4676 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 61 10 7 0 37 4 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.279 255 PASS . . . . . . . . . . . . . . . . 0.46031746 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 63.0 . . . . . . . . . . 0.1257 . . . . . . . . 1.490e-04 . . . 0.0011 0.0002 0.0035 0 0 0 0 0.0001 0.0025 0.0002 0 0 0 0 0 0.0001 . . . . . . UTR5\x3bUTR3 UTR5 UTR5 . . . @ . . . 0.58 0.59 182 ENSG00000100031\x3bENSG00000100028 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs2010657 0.043 0.029 . . . . . . . . . . . . . . . . . . 0.0002 0.008 . . . . . . . 0.0009 0.0004 0.0003 0 0.0039 0 0 0 0.0002 0.0005 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.043 rs2010657 rs2010657 rs2010657 rs2010657 1 1538 10 1/0 0,255,255 +rs149660004 22 25005953 G A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution 5'UTR GRCh37 25005953 25005953 Chr22(GRCh37):g.25005953G>A -337 -337 NM_001288833.1:c.-337G>A p.? p.? 3 612346 22 3' 0 0.977495 0.002419 0 0 0.977495 0.002419 0 0 rs149660004 yes no Frequency 1 G 0.000000 0 0.000087 0.000071 0.000000 0.000000 0.000195 0.000000 0.000175 0.000000 0.000000 0.000195 10 1 0 0 2 0 7 0 0 114574 14142 16328 3338 10260 11900 39952 15460 3194 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 1 0 0 2 0 7 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.440 240 PASS . . . . . . . . . . . . . . . . 0.28125 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 32.0 . . . . . . . . . . -0.1750 . . . . . . . . 6.143e-05 . . . 0 0.0003 0 0 0 0.0006 0 0 . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.61 0.49 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149660004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 5.949e-05 0 0 0 0 0.0002 0 0 0.0001 0.0002 0 0 0.0012 0 0.0001 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs149660004 rs149660004 1 1538 10 1/0 0,255,255 +rs146905762 22 25005956 A T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution 5'UTR GRCh37 25005956 25005956 Chr22(GRCh37):g.25005956A>T -334 -334 NM_001288833.1:c.-334A>T p.? p.? 3 612346 25 3' 0 0.977495 0.002419 0 0 0.977495 0.002419 0 0 Cryptic Acceptor Strongly Activated 25005962 4.38324 0.199939 81.3264 7.32163 0.764335 86.9578 rs146905762 no no 0 A 0.000000 0 0.000035 0.000071 0.000000 0.000000 0.000293 0.000000 0.000000 0.000000 0.000000 0.000293 4 1 0 0 3 0 0 0 0 113342 14128 16130 3254 10240 11504 39542 15380 3164 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A T A>T 0.000 0.044 244 PASS . . . . . . . . . . . . . . . . 0.2962963 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 27.0 . . . . . . . . . . -0.2080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . @ . . . 0.58 0.41 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146905762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 1.208e-05 0 0 0.0001 0 0 0 0 0.0001 9.815e-05 0 0 0.0012 0 0 0 . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . rs146905762 rs146905762 1 1538 10 1/0 0,255,255 +rs139163542 22 25006958 C T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25006958 25006958 Chr22(GRCh37):g.25006958C>T -91 -91 NM_001288833.1:c.-7-84C>T p.? p.? 5 4 612346 -84 3' 69.2292 4.06227 0.009514 2.19321 69.2292 4.06227 0.009514 2.19321 0 rs139163542 yes no Frequency/1000G 2 C 0.000000 0 0.002049 0.000581 0.000000 0.000000 0.009235 0.000000 0.002532 0.001455 0.001040 0.009235 62 5 0 0 14 0 37 5 1 30260 8602 830 300 1516 0 14614 3436 962 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 62 5 0 0 14 0 37 5 1 0 0 0 0 0 0 0 0 0 RF 42 Genomes transition C T C>T 0.000 -2.216 237 PASS 0.05 0.04 0.04 0.02 0.06 . . . . . . . . . . . 0.27027026 . . @ 10 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . -0.7635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.35 0.15 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139163542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0020 0 0 0.0092 0.0015 0.0025 0.0010 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . 0.06 . . rs139163542 rs139163542 1 1538 10 1/0 0,255,255 +rs4049895 22 25007008 A G - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25007008 25007008 Chr22(GRCh37):g.25007008A>G -41 -41 NM_001288833.1:c.-7-34A>G p.? p.? 5 4 612346 -34 3' 69.2292 4.06227 0.009514 2.19321 69.2292 4.06227 0.009514 2.15548 0 rs4049895 yes no Frequency/1000G 2 G 0.000000 0 0.016174 0.002300 0.020400 0.006000 0.033800 0.025900 0.001682 0.001851 0.000832 0.000563 0.007371 0.001341 0.001548 0.000269 0.001449 0.007371 371 35 25 5 112 34 146 6 8 220588 18906 30058 8888 15194 25358 94330 22334 5520 0.000018 0.000000 0.000000 0.000000 0.000132 0.000079 0.000000 0.000000 0.000000 2 0 0 0 1 1 0 0 0 367 35 25 5 110 32 146 6 8 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.000 -0.198 248 PASS . . . . . 0.0023 0.016 0.026 0.006 0.034 0.02 . . . . . 0.3043478 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . . . . . . . -0.3552 . . . . . . . . 1.231e-03 . . . 0.0016 0.0026 0.0019 0.0018 0 0.0037 0.0036 0.0018 0.0013 0.0023 0.0020 0.0012 0.0004 0.0032 0.0076 0.0018 . . . . . . intronic intronic intronic . . . 0.0162 . . . 0.36 0.13 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs4049895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0014 0.0016 0.0008 0.0006 0.0073 0.0002 0.0015 0.0018 0.0013 0.0024 0.0022 0.0012 0 0.0081 0.0006 0.0020 0 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . rs4049895 rs4049895 rs4049895 rs4049895 1 1538 10 1/0 0,255,255 +rs113107930 22 25010979 C T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25010979 25010979 Chr22(GRCh37):g.25010979C>T 296-29 296-29 NM_001288833.1:c.296-29C>T p.? p.? 7 6 612346 -29 3' 86.231 12.508 0.985156 XII.36 86.231 12.508 0.985156 13.3153 0 Cryptic Donor Strongly Activated 25010977 54.3712 2.89397 0.024035 66.6896 rs113107930 yes no Frequency/1000G 2 T 0.000000 0 0.000399 0.000000 0.000000 0.002000 0.000000 0.000000 0.000119 0.000044 0.000029 0.000000 0.000107 0.000230 0.000156 0.000039 0.000159 0.000230 32 1 1 0 2 7 19 1 1 269608 22816 34058 9896 18664 30448 121884 25534 6308 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 1 1 0 2 7 19 1 1 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes 8138 3718 11856 0 2 2 0 0.000537634 0.000168663 0 0.000537634 0.000168663 12 transition C T C>T 0.000 -0.763 114 PASS 0.02 0.02 0.03 0.03 0.02 . 0.0004 . 0.002 . . . . . . . 0.10227273 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 88.0 . . . 0.0005 0.0002 . 0.0005 0.0002 . . -0.2155 . . . . . . . . 2.078e-04 . . . 0.0002 0.0002 9.076e-05 0.0007 0 8.205e-05 0 0.0003 0.0001 0.0002 9.339e-05 0.0004 0 0.0002 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0004 . . . 0.3 0.16 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs113107930 0.022 0.029 . . . . . . . . . . . . . . . . . . . . . 0.000169 . . . . . 7.051e-05 0.0001 3.008e-05 0 0.0001 4.521e-05 0.0002 0.0002 0.0002 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-114 . . . . . . . . . . . 0.03 . . rs113107930 rs113107930 1 1538 10 1/0 0,235,255 +rs112364951 22 25011027 C T - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution synonymous exon GRCh37 25011027 25011027 Chr22(GRCh37):g.25011027C>T 315 315 NM_001288833.1:c.315C>T p.Asn105= p.Asn105Asn 7 612346 20 3' 86.231 12.508 0.985156 XII.36 86.231 12.508 0.982517 XII.23 -0.000892921 rs112364951 yes no Frequency 1 T 0.000000 0 0.000087 0.000085 0.000058 0.000099 0.000000 0.000163 0.000096 0.000039 0.000156 0.000163 24 2 2 1 0 5 12 1 1 274428 23436 34398 10064 18838 30760 124732 25786 6414 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 24 2 2 1 0 5 12 1 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM1308015|COSM1308015 Urinary tract|Central nervous system 0.001488|0.001663 672|2405 transition C T C>T 0.961 -0.682 N Asn AAC 0.536 N Asn AAT 0.464 105 175 PASS . . . . . . . . . . . . . . . . 0.102564104 . . @ 16 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 156.0 . . . . . . . . . . 0.3850 . . . . . . . . 1.518e-04 . . . 0.0006 0.0002 8.76e-05 0.0002 0 7.737e-05 0 0.0002 0.0005 9.8e-05 9.016e-05 0.0001 0 1.923e-05 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.3 0.19 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112364951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.154e-05 5.958e-05 0.0001 0 4.486e-05 3.637e-05 0 0.0002 0 0.0003 0 0 0 0 0.0005 0.0010 . . . . . . . . . . . 1.0E-175 . . . . . . . . . . . . . . rs112364951 rs112364951 1 1538 10 1/0 0,207,255 +rs201397128 22 25023471 C A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution missense exon GRCh37 25023471 25023471 Chr22(GRCh37):g.25023471C>A 1093 1093 NM_001288833.1:c.1093C>A p.Pro365Thr p.Pro365Thr 12 612346 73 3' 75.8679 5.65508 0.750599 4.43616 75.8679 5.65508 0.750599 4.67025 0 rs201397128 no no 0 C 0.000000 0 COSM4156068|COSM4156068 Thyroid|Kidney 0.004016|0.000578 747|1729 transversion C A C>A 0.866 2.304 P Pro CCG 0.115 T Thr ACG 0.116 365 12 7 Fruitfly -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 226.93 0.00 Tolerated 0.59 II.87 242 PASS . . . . . . . . . . . . . . . . 0.29411766 . . @ 5 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.063 . @ . . . . . 1 0.098 . . 17.0 . . . . . . . . . . -0.8032 -0.873 -0.803 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.067 . . exonic exonic exonic . . 0.194 @ . . . 0.35 0.5 182 ENSG00000100031 GGT1 GGT1 . . . 0.000 0.048 . . . . . . . Uncertain_significance . 0 . 0.843 . . . . T 0.165 0.006 . . 37 . 0.080 . . 0.164 . . . 0.501 0.314 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.636 . . 0 0 0 0 0 0 . 0.272 . . 0.255 . . . . . . 0 0.242 . . . . . 0.557 . 0.402 . HET 0.03 rs201397128 . . . . . . . . . . . . XII.07 . . III.54 1.IX . 0.360000 P19440 . . . . . 0.302 . . . . . . . . . . . . . . . . . . . . . . 0.609 . 0.791 0.791000 . . 0.360000 . . 1.0E-242 0.012 0.185 . 0.135 0.259 . 0.434 . 0.383 0.791 0.853 . . . rs201397128 rs201397128 1 1538 10 1/0 0,255,255 +rs71318991 22 25023492 G A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution missense exon GRCh37 25023492 25023492 Chr22(GRCh37):g.25023492G>A 1114 1114 NM_001288833.1:c.1114G>A p.Glu372Lys p.Glu372Lys 12 612346 94 3' 75.8679 5.65508 0.750599 4.43616 75.8679 5.65508 0.750599 4.43616 0 rs71318991 yes no Frequency/1000G 2 G 0.000000 0 0.005990 0.000000 0.016400 0.002000 0.008000 0.005800 0.009219 0.002641 0.005059 0.012062 0.000424 0.014254 0.012182 0.005860 0.008685 0.014254 2543 63 174 122 8 438 1531 151 56 275838 23852 34394 10114 18850 30728 125682 25770 6448 0.000138 0.000000 0.000058 0.000198 0.000000 0.000456 0.000143 0.000078 0.000000 19 0 1 1 0 7 9 1 0 2505 63 172 120 8 424 1513 149 56 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8455 4386 12841 121 12 133 0.0141091 0.00272851 0.0102513 0.0141091 0.00272851 0.0102513 31 COSM1600222|COSM1600222|COSM1600222 Thyroid|Liver|Central nervous system 0.002677|0.000422|0.000416 747|2371|2405 transition G A G>A 0.984 2.465 E Glu GAG 0.583 K Lys AAG 0.575 372 12 5 Chicken 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 236.23 36.47 Tolerated 0.87 II.87 233 PASS . . . . . . 0.006 0.0058 0.002 0.008 0.016 . . . . . 0.2631579 . . @ 5 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.295 . @ . . . . . 1 0.923 . . 19.0 . . . 0.0027 0.01 0.014 0.0027 0.01 0.014 . -0.3529 -0.271 -0.353 c . . . . . 9.167e-03 . . . 0.0027 0.0104 0.0042 0.0009 0.0065 0.0138 0.0116 0.0149 0.0028 0.0089 0.0041 0 0.0066 0.0105 0.0104 0.0148 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.061 . . exonic exonic exonic . . 0.395 0.0060 . . . 0.47 0.56 182 ENSG00000100031 GGT1 GGT1 . . . 0.000 0.070 . . . . . . . Uncertain_significance . 0 . 0.286 . . . . . . . . . 37 . 0.030 . . 0.156 . . . 0.370 0.298 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.539 . . 0 0 0 0 0 0 . 0.308 . . 0.263 . . . . . . 0 0.202 . . . . . 0.333 . 0.507 . HET 0.04 rs71318991 . . . . . . . . . . . . VIII.79 0.003489 . III.54 III.54 . 0.840000 P19440 . . . 0.010251 . 0.517 . . III.54 0.0023 0.0093 0.0049 0.0123 0.0005 0.0058 0.0121 0.0088 0.0143 0.0032 0.0084 0.0096 0.0035 0 0.0063 0.0130 0.0082 . . 0.609 . 1.992 1.992000 . . 0.840000 . . 1.0000000000000001E-233 1.000 0.715 . 0.148 0.152 . 0.607 . 0.597 1.992 0.609 0.014 . rs71318991 rs71318991 rs71318991 1 1538 10 1/0 0,255,255 +rs74279113 22 25024040 G A - GGT1 4250 Gamma-glutamyltransferase 1 NM_001288833.1 1 2675 1710 NP_001275762.1 P19440 substitution intron GRCh37 25024040 25024040 Chr22(GRCh37):g.25024040G>A 1337-8 1337-8 NM_001288833.1:c.1337-8G>A p.? p.? 14 13 612346 -8 3' 75.9841 8.54149 0.561341 XI.71 0 2.65204 0.371438 1.86942 -0.675938 New Acceptor Site 25024042 8.38552 0.859109 83.535 rs74279113 yes no Frequency 1 G 0.000000 0 0.000008 0.000000 0.000000 0.000000 0.000000 0.000000 0.000018 0.000000 0.000000 0.000018 2 0 0 0 0 0 2 0 0 244424 14980 33554 9806 17202 30770 110410 22260 5442 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 100 Exomes 8534 4404 12938 2 0 2 0.000234302 0 0.00015456 0.000234302 0 0.00015456 27 transition G A G>A 0.008 1.013 177 PASS . . . . . . . . . . . . . . . . 0.10869565 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 46.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . 0.1674 . . . . . . . . 1.580e-05 . . . 0 1.182e-05 0 0 0 2.621e-05 0 0 0 9.85e-06 0 0 0 1.937e-05 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.42 0.24 182 ENSG00000100031 GGT1 GGT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs201572201 . . . . . . . . . . . . . . . . . . . . 0.9999 0.97 . 0.000155 . . . . II.61 0 8.183e-06 0 0 0 0 1.811e-05 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-177 . . . . . . . . . . . 0.0002 . . rs74279113 rs201572201 1 1538 10 1/0 0,255,255 +. 22 25046666 C T - BCRP3 1016 Breakpoint cluster region pseudogene 3 NR_024494.1 1 1425 0 substitution intron GRCh37 25046666 25046666 Chr22(GRCh37):g.25046666C>T 1070+677 1070+677 NR_024494.1:n.1070+677C>T p.? p.? 6 6 113640 677 5' 84.8076 9.98517 0.95104 8.00288 84.8076 9.98517 0.95104 8.00288 0 Cryptic Donor Strongly Activated 25046660 3.19543 0.229315 65.2751 7.38896 0.907141 71.0537 0.000363 0.002795 0.000079 0.000000 0.000000 0.000000 0.000386 0.000106 0.000211 0.002795 64 31 2 0 0 0 28 2 1 176542 11092 25168 8322 12660 23126 72572 18854 4748 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 31 2 0 0 0 28 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.504 1.255 191 PASS . . . . . . . . . . . . DKFZp434K191:uc021wni.1:exon1:c.G393A:p.G131G . . . 0.13953489 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . @ . . . . . . . DKFZp434K191 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0053 0.0024 0.0025 0 0 0.0006 0.0020 0.0011 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 25046666 C T - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution intron GRCh37 25046666 25046666 Chr22(GRCh37):g.25046666C>T 6205-338 6205-338 NR_024593.1:n.6205-338G>A p.? p.? 3 2 -338 3' 87.937 8.66205 0.99313 9.17176 87.937 8.66205 0.99313 9.17176 0 0.000363 0.002795 0.000079 0.000000 0.000000 0.000000 0.000386 0.000106 0.000211 0.002795 64 31 2 0 0 0 28 2 1 176542 11092 25168 8322 12660 23126 72572 18854 4748 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 64 31 2 0 0 0 28 2 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.504 1.255 191 PASS . . . . . . . . . . . . DKFZp434K191:uc021wni.1:exon1:c.G393A:p.G131G . . . 0.13953489 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 43.0 . . . . . . . . . . -0.2023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_intronic exonic ncRNA_intronic . . . @ . . . . . . . DKFZp434K191 . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0053 0.0024 0.0025 0 0 0.0006 0.0020 0.0011 . . . . . . . . . . . 1.0E-191 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs201591499 22 25053956 A G - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution exon GRCh37 25053956 25053956 Chr22(GRCh37):g.25053956A>G 1159 1159 NR_024593.1:n.1159T>C 1 -4939 5' 85.7103 9.84413 0.949895 3.09891 85.7103 9.84413 0.949895 3.09891 0 rs201591499 yes no Frequency 1 0.000000 0 0.008044 0.005634 0.003580 0.006623 0.014198 0.000000 0.010029 0.002862 0.011247 0.014198 247 48 3 2 23 0 150 10 11 30708 8520 838 302 1620 0 14956 3494 978 0.012146 0.020833 0.000000 0.000000 0.086957 0.000000 0.000000 0.000000 0.000000 3 1 0 0 2 0 0 0 0 241 46 3 2 19 0 150 10 11 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition T C T>C 0.000 -0.440 255 PASS . . . . . . . . . . . . . . . . 0.44444445 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 54.0 . . . . . . . . . . -0.4667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.46 0.11 182 ENSG00000224124 POM121L10P POM121L10P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . HET . rs201591499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0056 0.0080 0.0036 0.0066 0.0142 0.0029 0.0100 0.0112 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs201591499 rs201591499 1 1538 10 1/0 0,255,255 +. 22 25054412 T A - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution exon GRCh37 25054412 25054412 Chr22(GRCh37):g.25054412T>A 703 703 NR_024593.1:n.703A>T 1 -5395 5' 85.7103 9.84413 0.949895 3.09891 85.7103 9.84413 0.949895 3.09891 0 0.000113 0.000134 0.000000 0.000000 0.000648 0.000000 0.000080 0.000000 0.000000 0.000648 3 1 0 0 1 0 1 0 0 26534 7464 738 202 1544 0 12534 3218 834 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 30 Genomes transversion A T A>T 0.000 0.851 190 PASS . . . . . . . . . . . . . . . . 0.13636364 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 44.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Tca|T235S|POM121L10P|Non-coding_transcript|NON_CODING|NR_024593|NR_024593.ex.1) . . . . . . . -0.1645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.51 0.22 182 ENSG00000224124 POM121L10P POM121L10P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 0 0 0.0006 0 7.978e-05 0 . . . . . . . . . . . 1.0E-190 . . . . . . . . . . . . rs5742580 rs5742580 rs5742580 rs5742580 1 1538 10 1.I 0,0,0 +. 22 25054418 T C - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution exon GRCh37 25054418 25054418 Chr22(GRCh37):g.25054418T>C 697 697 NR_024593.1:n.697A>G 1 -5401 5' 85.7103 9.84413 0.949895 3.09891 85.7103 9.84413 0.949895 3.09891 0 0.000752 0.000671 0.004021 0.000000 0.005208 0.000000 0.000159 0.000000 0.002381 0.005208 20 5 3 0 8 0 2 0 2 26596 7456 746 206 1536 0 12580 3232 840 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20 5 3 0 8 0 2 0 2 0 0 0 0 0 0 0 0 0 RF 31 Genomes transition A G A>G 0.000 -1.489 195 PASS . . . . . . . . . . . . . . . . 0.15 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 40.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N233D|POM121L10P|Non-coding_transcript|NON_CODING|NR_024593|NR_024593.ex.1) . . . . . . . -0.5241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.5 0.17 182 ENSG00000224124 POM121L10P POM121L10P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0008 0.0040 0 0.0052 0 0.0002 0.0024 . . . . . . . . . . . 9.999999999999999E-196 . . . . . . . . . . . . rs3984113 rs3984113 rs3984113 rs3984113 1 1538 10 1.I 0,0,0 +. 22 25054545 G C - POM121L10P 35448 POM121 transmembrane nucleoporin-like 10, pseudogene NR_024593.1 -1 9547 0 substitution exon GRCh37 25054545 25054545 Chr22(GRCh37):g.25054545G>C 570 570 NR_024593.1:n.570C>G 1 -5528 5' 85.7103 9.84413 0.949895 3.09891 85.7103 9.84413 0.949895 3.09891 0 0.006830 0.009051 0.004870 0.000000 0.000776 0.000000 0.005979 0.008576 0.008824 0.009051 148 53 3 0 1 0 62 23 6 21670 5856 616 178 1288 0 10370 2682 680 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 148 53 3 0 1 0 62 23 6 0 0 0 0 0 0 0 0 0 RF 33 Genomes transversion C G C>G 0.000 -0.682 237 PASS . . . . . . . . . . . . . . . . 0.2777778 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 18.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccC/ccG|P190|POM121L10P|Non-coding_transcript|NON_CODING|NR_024593|NR_024593.ex.1) . . . . . . . -0.4743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.42 0.16 182 ENSG00000224124 POM121L10P POM121L10P . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0091 0.0068 0.0049 0 0.0008 0.0086 0.0060 0.0088 . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . rs3876057 rs3876057 rs3876057 rs3876057 1 1538 10 1/0 0,255,255 +rs13054858 22 25424579 C A - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution missense exon GRCh37 25424579 25424579 Chr22(GRCh37):g.25424579C>A 613 613 NM_001145206.1:c.613C>A p.Pro205Thr p.Pro205Thr 1 -929 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.21971 0 rs13054858 yes no Frequency/HapMap/1000G 3 C 0.000000 0 COSM6468075 Lung 0.000419 2388 transversion C A C>A 0.000 -0.117 P Pro CCA 0.274 T Thr ACA 0.280 205 13 6 Chicken -1 -1 -3 0.39 0.71 8 8.VI 32.5 61 38 C0 353.86 0.00 Tolerated 0.17 III.43 unknown 0.0 0.0 111 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.C613A:p.P205T KIAA1671:NM_001145206:exon1:c.C613A:p.P205T . . 1.0 . . @ 104 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.058 . . 104.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Aca|P205T|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . -1.5824 -1.579 -1.582 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.094 @ . . . 0.45 0.27 182 ENSG00000197077 KIAA1671 KIAA1671 . . . 1.000 0.747 . 731 0.0112503 64976 728 0.0121362 59986 Uncertain_significance . 0 . 0.100 . . . . D 0.561 0.035 . . 37 . 0.191 . . 0.402 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.197 . . 0 0 0 0 0 0 . 0.067 . . 0.127 . . . . . . 0 0.025 . . . . . 0.162 . 0.067 . HOM 0.36 rs117847071 0.109 0.210 . . . . . . . . . . V.81 . . IV.71 -1.06 . 1.000000 Q9BY89 . . . . . 0.146 . . . . . . . . . . . . . . . . . . . . . . 0.573 . -0.818 -0.818000 . . 1.000000 . . 1.0E-111 0.000 0.063 . 0.016 0.000 . 0.154 . 0.040 -0.818 -0.403 0.11 rs13054858 rs13054858 rs13054858 rs117847071 1 1538 255 1.I 0,0,255 +rs17667531 22 25425282 A G - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution missense exon GRCh37 25425282 25425282 Chr22(GRCh37):g.25425282A>G 1316 1316 NM_001145206.1:c.1316A>G p.Lys439Arg p.Lys439Arg 1 -226 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.21971 0 Cryptic Donor Strongly Activated 25425282 0.004296 57.5101 2.98609 0.454983 69.6461 rs17667531 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition A G A>G 0.898 1.497 K Lys AAG 0.575 R Arg AGG 0.207 439 13 8 Chicken 3 2 3 0.33 0.65 11.III 10.V 119 124 26 C0 353.86 0.00 Tolerated 0.11 III.43 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.A1316G:p.K439R KIAA1671:NM_001145206:exon1:c.A1316G:p.K439R . . 0.49811321 . . @ 132 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.509 . @ . . . . . 1 0.831 . . 265.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K439R|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . -0.1684 -0.232 -0.168 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.425 @ . . . 0.51 0.4 182 ENSG00000197077 KIAA1671 KIAA1671 . . . 0.999 0.397 . 1941 0.0298726 64976 1893 0.0315574 59986 Uncertain_significance . 0 . 0.072 . . . . T 0.380 0.017 . . 37 . 0.419 . . 0.231 . . . 0.456 0.243 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.326 . . 0 0 0 0 0 0 . 0.609 . . 0.564 . . . . . . 0 0.574 . . . . . 0.320 . 0.171 . HET 0.03 rs17667531 0.217 0.254 . . . . . . . . . . VIII.84 . . IV.82 III.78 . 0.600000 Q9BY89 . . . . . 0.359 . . III.78 . . . . . . . . . . . . . . . . . . . 0.730 . 0.812 0.812000 . . 0.600000 . . 1.0E-255 0.983 0.354 . 0.117 0.015 . 0.465 . 0.248 0.812 0.079 0.22 rs17667531 rs17667531 rs17667531 rs116253946 1 1538 10 1/0 0,219,241 +rs11704667 22 25425340 T C - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25425340 25425340 Chr22(GRCh37):g.25425340T>C 1374 1374 NM_001145206.1:c.1374T>C p.Ser458= p.Ser458Ser 1 -168 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.21971 0 rs11704667 yes no Frequency/1000G 2 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 0.448 S Ser TCT 0.185 S Ser TCC 0.220 458 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.T1374C:p.S458S KIAA1671:NM_001145206:exon1:c.T1374C:p.S458S . . 0.4978903 . . @ 118 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 237.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S458|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . 0.1749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.36 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 14630 0.22516 64976 13138 0.219018 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11704667 0.478 0.457 . . . . . . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.48 rs11704667 rs11704667 rs11704667 rs114925996 1 1538 10 1/0 0,226,251 +rs11704674 22 25425403 T C - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25425403 25425403 Chr22(GRCh37):g.25425403T>C 1437 1437 NM_001145206.1:c.1437T>C p.Val479= p.Val479Val 1 -105 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.21971 0 rs11704674 yes no Frequency/HapMap/1000G 3 T 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 1.000 0.609 V Val GTT 0.178 V Val GTC 0.240 479 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.T1437C:p.V479V KIAA1671:NM_001145206:exon1:c.T1437C:p.V479V . . 0.5120482 . . @ 85 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 166.0 . . SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V479|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . 0.8458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.35 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 6996 0.107671 64976 6044 0.100757 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs11704674 0.326 0.333 . . . . . . . . . . . . . . . . . . . . . . . . . . II.68 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.33 rs11704674 rs11704674 rs11704674 rs115525122 1 1538 10 1/0 0,243,255 +rs12330067 22 25425439 A C - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25425439 25425439 Chr22(GRCh37):g.25425439A>C 1473 1473 NM_001145206.1:c.1473A>C p.Ser491= p.Ser491Ser 1 -69 5' 78.5672 8.54212 0.928843 9.21971 78.5672 8.54212 0.928843 9.60755 0 rs12330067 yes no Frequency/HapMap/1000G 3 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion A C A>C 0.000 -3.184 S Ser TCA 0.148 S Ser TCC 0.220 491 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon1:c.A1473C:p.S491S KIAA1671:NM_001145206:exon1:c.A1473C:p.S491S . . 0.5578231 . . @ 82 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 147.0 . . SYNONYMOUS_CODING(LOW|SILENT|tcA/tcC|S491|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.1) . . . . . . . -0.5014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.44 0.39 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 15053 0.23167 64976 13630 0.22722 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs114054494 0.489 0.442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.49 rs12330067 rs12330067 rs12330067 rs114054494 1 1538 10 1/0 0,250,255 +rs2076119 22 25428768 A G - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution intron GRCh37 25428768 25428768 Chr22(GRCh37):g.25428768A>G 1629+105 1629+105 NM_001145206.1:c.1629+105A>G p.? p.? 2 2 105 5' 94.6745 X.23 0.998826 7.81598 94.6745 X.23 0.998826 7.81598 0 rs2076119 yes no Frequency/1000G 2 G 0.000000 0 transition A G A>G 0.000 -0.844 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 31 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 31.0 . . INTRON(MODIFIER||||KIAA1671|mRNA|CODING|NM_001145206|) . . . . . . . -0.5634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.37 0.33 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs116806726 0.750 0.768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.75 rs2076119 rs2076119 rs2076119 rs116806726 1 1538 255 1.I 0,0,255 +rs73157984 22 25435028 G T - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution missense exon GRCh37 25435028 25435028 Chr22(GRCh37):g.25435028G>T 1931 1931 NM_001145206.1:c.1931G>T p.Arg644Leu p.Arg644Leu 3 302 3' 93.2974 X.85 0.98868 XI.28 93.2974 X.85 0.98868 XI.28 0 Cryptic Acceptor Strongly Activated 25435037 5.23069 0.416994 75.8178 5.82495 0.777037 81.2531 rs73157984 yes no Frequency/1000G 2 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 36 8 10 0 4 8 6 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion G T G>T 0.000 -2.054 R Arg CGT 0.082 L Leu CTT 0.129 644 13 6 Dog -2 -2 -4 0.65 0 10.V 4.IX 124 111 102 C0 353.86 0.00 Tolerated 0.22 IV.32 unknown 0.0 0.0 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon3:c.G1931T:p.R644L KIAA1671:NM_001145206:exon3:c.G1931T:p.R644L . . 0.5714286 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.036 . @ . . . . . 1 0.071 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cTt|R644L|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.3) . . . . . . . -1.5342 -1.673 -1.534 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.019 @ . . . 0.46 0.36 182 ENSG00000197077 KIAA1671 KIAA1671 . . . 0.952 0.279 . 185 0.00284721 64976 183 0.00305071 59986 Uncertain_significance . 0 . 0.007 . . . . T 0.218 0.008 . . 37 . 0.195 . . 0.125 . . . 0.263 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.364 . . 0 0 0 0 0 0 . 0.273 . . 0.237 . . . . . . 0 0.195 . . . . . 0.186 . 0.109 . HET 0.55 rs73157984 0.033 0.029 . . . . . . . . . . 6.0005 . . 3.VII -6.13 . 0.170000 Q9BY89 . . . . . 0.102 . . . 0 0 0 . 0 . 0 . 0 . . . . . . . . . . 0.310 . -2.211 -2.211000 . . 0.170000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.026 . 0.061 -2.211 -0.464 0.033 . rs73157984 rs73157984 rs114021782 1 1538 10 1/0 0,255,255 +rs80228367 22 25435047 G A - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25435047 25435047 Chr22(GRCh37):g.25435047G>A 1950 1950 NM_001145206.1:c.1950G>A p.Pro650= p.Pro650Pro 3 321 3' 93.2974 X.85 0.98868 XI.28 93.2974 X.85 0.98868 XI.28 0 rs80228367 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 0 14 0 2 8 8 0 2 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition G A G>A 0.000 -0.844 P Pro CCG 0.115 P Pro CCA 0.274 650 255 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon3:c.G1950A:p.P650P KIAA1671:NM_001145206:exon3:c.G1950A:p.P650P . . 0.55172414 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P650|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.3) . . . . . . . -0.0846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.48 0.35 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 30 0.000461709 64976 30 0.000500117 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs80228367 0.022 0.014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.022 . . rs80228367 rs201736069 1 1538 10 1/0 0,255,255 +rs1040421 22 25436904 T C - KIAA1671 29345 KIAA1671 NM_001145206.1 1 10494 5421 NP_001138678.1 Q9BY89 substitution synonymous exon GRCh37 25436904 25436904 Chr22(GRCh37):g.25436904T>C 3807 3807 NM_001145206.1:c.3807T>C p.Asn1269= p.Asn1269Asn 3 -589 5' 99.6933 X.84 0.998751 8.92549 99.6933 X.84 0.998751 8.92549 0 rs1040421 yes no Frequency/HapMap/1000G 3 C 0.000000 0 COSM5505056 Biliary tract 0.002717 368 transition T C T>C 0.000 -0.037 N Asn AAT 0.464 N Asn AAC 0.536 1269 111 PASS . . . . . . . . . . . . KIAA1671:uc003abn.3:exon3:c.T3807C:p.N1269N KIAA1671:NM_001145206:exon3:c.T3807C:p.N1269N . . 1.0 . . @ 79 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 79.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N1269|KIAA1671|mRNA|CODING|NM_001145206|NM_001145206.ex.3) . . . . . . . 0.0378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.26 182 ENSG00000197077 KIAA1671 KIAA1671 . . . . . . 1681 0.0258711 64976 1458 0.0243057 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs1040421 0.750 0.768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.75 rs1040421 rs1040421 rs1040421 rs1040421 1 1538 255 1.I 0,0,255 +rs145051889 22 25715848 C T - IGLL3P 5872 Immunoglobulin lambda-like polypeptide 3, pseudogene NR_029395.1 1 676 0 substitution exon GRCh37 25715848 25715848 Chr22(GRCh37):g.25715848C>T 330 330 NR_029395.1:n.330C>T 3 115 3' 85.4981 XI.39 0.983929 13.8257 85.4981 XI.39 0.983929 13.8257 0 rs145051889 yes no Frequency/1000G 2 C 0.000000 0 0.001198 0.001500 0.000000 0.000000 0.002000 0.002900 0.001062 0.000417 0.003894 0.000788 0.000265 0.000845 0.000744 0.000427 0.000929 0.003894 294 10 134 8 5 26 94 11 6 276796 23960 34410 10152 18862 30758 126410 25784 6460 0.000022 0.000000 0.000058 0.000000 0.000000 0.000000 0.000016 0.000078 0.000000 3 0 1 0 0 0 1 1 0 288 10 132 8 5 26 92 9 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes COSM6233748 Liver 0.000422 2371 transition C T C>T 0.000 -1.328 255 PASS 0.002 0.0018 0.01 . . 0.0015 0.0012 0.0029 . 0.002 . . . . . . 0.49456522 . . @ 91 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 184.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D110|IGLL3P|Non-coding_transcript|NON_CODING|NR_029395|NR_029395.ex.3) . . . . . . . -0.4448 . . . . . . . . 1.113e-03 . . . 0.0002 0.0013 0.0057 0 0.0003 0.0007 0 0.0011 0.0002 0.0012 0.0057 0 0.0005 0.0007 0 0.0011 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0012 . . . 0.21 0.21 182 ENSG00000206066 IGLL3P IGLL3P . . . . . . 18 0.000277025 64976 12 0.000200047 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145051889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0011 0.0039 0.0008 0.0002 0.0004 0.0007 0.0007 0.0008 0.0003 0.0010 0.0036 0 0.0012 0.0003 0.0013 0.0020 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145051889 rs145051889 1 1538 10 1/0 0,230,243 +rs121908712 22 29108079 C G - CHEK2 16627 Checkpoint kinase 2 NM_001005735.1 -1 1987 1761 NP_001005735.1 substitution intron GRCh37 29108079 29108079 Chr22(GRCh37):g.29108079C>G 813-74 813-74 NM_001005735.1:c.813-74G>C p.? p.? 7 6 604373 -74 3' 83.5672 X.05 0.981188 9.58044 83.5672 X.05 0.981188 9.33436 0 rs121908712 yes no Frequency/1000G 2 C not_provided 0.000000 0 0.001597 0.000800 0.003100 0.000000 0.002000 0.002900 0.001221 0.000250 0.001217 0.000000 0.000000 0.000000 0.002140 0.000318 0.001111 0.002140 35 2 1 0 0 0 30 1 1 28660 8006 822 286 1484 0 14018 3144 900 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 35 2 1 0 0 0 30 1 1 0 0 0 0 0 0 0 0 0 PASS 46 Genomes RCV000114753.1 germline not provided Not provided 0 not provided transversion G C G>C 0.000 -0.440 255 PASS 0.002 0.0018 0.0028 . 0.0026 0.0008 0.0016 0.0029 . 0.002 0.0031 . . . . . 0.5714286 . . germline 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . not//\@provided not_provided RCV000114753.1 not_provided MedGen CN221809 2 . . . 35.0 . . . . . . . . . . 0.1206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.36 0.23 182 ENSG00000183765 CHEK2 CHEK2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs121908712 . . . CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000114753.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dnot\x3bCLNACC\x3dRCV000114753.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 CLINSIG\x3duntested\x3bCLNDBN\x3dnot_provided\x3bCLNREVSTAT\x3dno_assertion_provided\x3bCLNACC\x3dRCV000114753.1\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0012 0.0012 0 0 0.0003 0.0021 0.0011 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0028 . . rs121908712 . 1 1538 10 1/0 0,255,255 +rs370585934 (chr22:29815342 C/G) 22 29815342 C G Not on a known gene +. 22 29885567 A AAAGTCCCCTGAGTAGGCC - NEFH 7737 Neurofilament, heavy polypeptide NM_021076.3 1 3721 3063 NP_066554.2 insertion stop gain exon GRCh37 29885579 29885580 Chr22(GRCh37):g.29885579_29885580insTAGGCCAAGTCCCCTGAG 1950 1951 NM_021076.3:c.1950_1951insTAGGCCAAGTCCCCTGAG p.Lys651* p.Lys651* 4 162230 742 3' 78.7896 8.86483 0.161505 III.93 78.7896 8.86483 0.161505 III.93 0 Protein of unknown function DUF1388 TAGGCCAAGTCCCCTGAG 255 Pass . . . . . . . . . . . ENSG00000100285:ENST00000310624:exon4:c.1938_1939insAAGTCCCCTGAGTAGGCC:p.A646delinsAKSPEX NEFH:uc003afo.3:exon4:c.1938_1939insAAGTCCCCTGAGTAGGCC:p.A646delinsAKSPEX NEFH:NM_021076:exon4:c.1938_1939insAAGTCCCCTGAGTAGGCC:p.A646delinsAKSPEX . . 0.2 . . . 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . 130 . . STOP_GAINED(HIGH||-/AAGTCCCCTGAGTAGGCC|-647KSPE*A|NEFH|mRNA|CODING|NM_021076|NM_021076.ex.4) 0.1 0.096 0.093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . stopgain stopgain stopgain . . . exonic exonic exonic . . . . . . . . . . ENSG00000100285 NEFH NEFH . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv438344 0.095847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.1 . . . . 1 1538 10 1.I 0,8,70 +rs780193104 22 30202098 C A - ASCC2 24103 Activating signal cointegrator 1 complex subunit 2 NM_032204.4 -1 2823 2274 NP_115580.2 Q9H1I8 substitution intron GRCh37 30202098 30202098 Chr22(GRCh37):g.30202098C>A 1160+107 1160+107 NM_032204.4:c.1160+107G>T p.? p.? 12 12 614216 107 5' 50.2257 0 0.000181 0 50.2257 0 0.000181 0 0 rs780193104 no no 0 C 0.000000 0 0.000097 0.000115 0.000000 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.000133 3 1 0 0 0 0 2 0 0 30950 8730 838 302 1612 0 14996 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes transversion G T G>T 0.000 -1.086 255 PASS . . . . . . . . . . . . . . . . 0.4369748 . . @ 52 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . . . . . . . -0.1756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000100325 ASCC2 ASCC2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs780193104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 9.693e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,245,255 +rs769743475 22 30412685 G A - HORMAD2-AS1 50729 HORMAD2 antisense RNA 1 NR_110541.1 -1 1152 0 substitution intron GRCh37 30412685 30412685 Chr22(GRCh37):g.30412685G>A 697+1921 697+1921 NR_110541.1:n.697+1921C>T p.? p.? 4 4 1921 5' 89.8263 9.80181 0.998019 7.13524 89.8263 9.80181 0.998019 7.13524 0 rs769743475 yes no Frequency 1 G 0.000000 0 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000156 0.000056 8 0 0 0 0 0 7 0 1 274660 24024 34230 9920 18840 30362 125332 25558 6394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 7 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 2.788 255 PASS . . . . . . . . . . . . . . . . 0.42 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.348 . @ . . . . . 1 0.168 . . 50.0 . . . . . . . . . . -0.3450 -0.038 -0.345 c . . . . . 1.579e-05 . . . 0 2.282e-05 0 0 0 4.836e-05 0 0 0 1.94e-05 0 0 0 3.733e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.899 . . exonic exonic exonic . . 0.645 @ . . . . . . ENSG00000100330 MTMR3 MTMR3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.396 . . . . T 0.453 0.022 . . 37 . 0.613 . . 0.621 . . . 0.005 0.380 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 1 0.045 . . . . . 0.070 . 0.137 . HET 0.86 rs769743475 . . . . . . . . . . . . 3.458 . . 6.I IV.94 . 0.660000 . 0.0030 0.056 . . . 0.475 . . IV.94 0 2.462e-05 0 0 0 0 4.532e-05 0.0002 0 0 6.455e-05 0 0 0 0 0.0001 0 . . 0.730 . 2.861 2.861000 . . 0.660000 . . 1.0E-255 1.000 0.715 . 0.888 0.994 . 0.512 . 0.713 2.861 0.069 . . . . . 1 1538 10 1/0 0,255,255 +rs769743475 22 30412685 G A - MTMR3 7451 Myotubularin related protein 3 NM_021090.3 1 8992 3597 NP_066576.1 Q13615 substitution missense exon GRCh37 30412685 30412685 Chr22(GRCh37):g.30412685G>A 1672 1672 NM_021090.3:c.1672G>A p.Ala558Thr p.Ala558Thr 15 603558 -3 5' 64.5464 6.35207 0.553743 4.67313 67.2944 6.72591 0.84774 6.10144 0.210785 Cryptic Donor Strongly Activated 30412687 6.35207 0.553743 64.5464 6.72591 0.84774 67.2944 rs769743475 yes no Frequency 1 G 0.000000 0 0.000029 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000156 0.000056 8 0 0 0 0 0 7 0 1 274660 24024 34230 9920 18840 30362 125332 25558 6394 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 7 0 1 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 1.000 2.788 A Ala GCC 0.403 T Thr ACC 0.361 558 11 5 Dog 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 226.65 0.00 Tolerated 0.51 III.25 good 3.739E-1 0.1538 255 PASS . . . . . . . . . . . . . . . . 0.42 . . @ 21 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.348 . @ . . . . . 1 0.168 . . 50.0 . . . . . . . . . . -0.3450 -0.038 -0.345 c . . . . . 1.579e-05 . . . 0 2.282e-05 0 0 0 4.836e-05 0 0 0 1.94e-05 0 0 0 3.733e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.899 . . exonic exonic exonic . . 0.645 @ . . . . . . ENSG00000100330 MTMR3 MTMR3 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.396 . . . . T 0.453 0.022 . . 37 . 0.613 . . 0.621 . . . 0.005 0.380 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.020 . . 0 0 0 0 0 0 . 0.090 . . 0.063 . . . . . . 1 0.045 . . . . . 0.070 . 0.137 . HET 0.86 rs769743475 . . . . . . . . . . . . 3.458 . . 6.I IV.94 . 0.660000 . 0.0030 0.056 . . . 0.475 . . IV.94 0 2.462e-05 0 0 0 0 4.532e-05 0.0002 0 0 6.455e-05 0 0 0 0 0.0001 0 . . 0.730 . 2.861 2.861000 . . 0.660000 . . 1.0E-255 1.000 0.715 . 0.888 0.994 . 0.512 . 0.713 2.861 0.069 . . . . . 1 1538 10 1/0 0,255,255 +rs374916412 22 30662733 C T - OSM 8506 Oncostatin M NM_020530.5 -1 1858 759 NP_065391.1 P13725 substitution intron GRCh37 30662733 30662733 Chr22(GRCh37):g.30662733C>T 34+22 34+22 NM_020530.5:c.34+22G>A p.? p.? 1 1 165095 22 5' 74.8217 9.13691 0.941136 10.682 74.8217 9.13691 0.941136 X.59 0 rs374916412 yes no Frequency 1 C 0.000000 0 0.000091 0.000209 0.000000 0.000000 0.000000 0.000033 0.000152 0.000000 0.000000 0.000209 25 5 0 0 0 1 19 0 0 274728 23886 34226 10080 18720 30718 125036 25656 6406 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 25 5 0 0 0 1 19 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8600 4405 13005 0 1 1 0 0.000226963 7.68876e-05 0 0.000226963 7.68876e-05 46 transition G A G>A 0.000 -2.861 255 PASS . . . . . . . . . . . . . . . . 0.39597315 . . @ 59 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . INTRON(MODIFIER||||OSM|mRNA|CODING|NM_020530|) 0.0002 0.0001 . 0.0002 0.0001 . . 0.4942 . . . . . . . . 1.421e-04 . . . 0.0003 3.368e-05 0 0 0 0 0 0 0.0002 0.0002 0 0 0 0.0003 0 0 . . . . . . intronic intronic intronic . . . @ . . . 0.54 0.48 182 ENSG00000099985 OSM OSM . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs374916412 . . . . . . . . . . . . . . . . . . . . . . . 0.000077 . . . . . 0.0003 9.844e-05 0 0 0 0 0.0002 0 3.255e-05 0 3.235e-05 0 0 0 0 6.68e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0002 . . rs374916412 rs374916412 1 1538 10 1/0 0,236,255 +. 22 30681797 T TCTGCCCCAGCCCTGGGTGCTCCCC - CASTOR1 34423 Cytosolic arginine sensor for mTORC1 subunit 1 NM_001037666.2 -1 1622 990 NP_001032755.1 Q8WTX7 insertion intron GRCh37 30681797 30681798 Chr22(GRCh37):g.30681797_30681798insCTGCCCCAGCCCTGGGTGCTCCCC 921+23 921+24 NM_001037666.2:c.921+23_921+24insGGGGAGCACCCAGGGCTGGGGCAG p.? p.? 8 8 617034 23 5' 81.348 8.04975 0.988275 9.618 81.348 8.04975 0.988275 XI.03 0 GGGGAGCACCCAGGGCTGGGGCAG 255 Pass . . . . . . . . . . . . . . . . 0.3862069 . . . 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 145 . . INTRON(MODIFIER||||GATSL3|mRNA|CODING|NM_001037666|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . . GATSL3 GATSL3 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,41 +. 22 31089959 A AA - OSBP2 8504 Oxysterol binding protein 2 NM_030758.3 1 4340 2751 NP_110385.1 Q969R2 duplication upstream GRCh37 31089971 31089972 Chr22(GRCh37):g.31089971dup -926 -926 NM_030758.3:c.-926dup p.? p.? 1 606729 -1569 5' 84.8076 9.98517 0.990794 7.58012 84.8076 9.98517 0.990794 7.58012 0 rs11383654 yes no Frequency/1000G 2 0.000000 0 0.867612 0.854000 0.843600 0.913700 0.859800 0.871800 0.963653 0.974193 0.904851 0.941406 0.999366 0.000000 0.968683 0.842444 0.949367 0.999366 23066 7361 485 241 1577 0 11754 1048 600 23936 7556 536 256 1578 0 12134 1244 632 0.481791 0.487162 0.447423 0.468880 0.499683 0.000000 0.484346 0.411260 0.475000 11113 3586 217 113 788 0 5693 431 285 581 132 32 13 1 0 259 126 18 0 0 0 0 0 0 0 0 0 PASS 40 Genomes A 255 Pass . . . . . . . . . . . . . . . . 0.4814815 . . . 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000184792 OSBP2 OSBP2 . uc011ala.1:c.-89_-88insA NM_001282738:c.-89_-88insA . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,32 +rs79952133 22 31583129 G A - RNF185 26783 Ring finger protein 185 NM_152267.3 1 3212 579 NP_689480.2 Q96GF1 substitution missense exon GRCh37 31583129 31583129 Chr22(GRCh37):g.31583129G>A 49 49 NM_152267.3:c.49G>A p.Ala17Thr p.Ala17Thr 2 97 3' 85.573 7.97019 0.962004 4.50581 85.573 7.97019 0.962004 4.50581 0 rs79952133 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.001180 0.000751 0.000379 0.000000 0.000000 0.000033 0.002284 0.000194 0.000155 0.002284 326 18 13 0 0 1 288 5 1 276190 23974 34272 10098 18794 30758 126082 25776 6436 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 326 18 13 0 0 1 288 5 1 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8572 4405 12977 28 1 29 0.00325581 0.000226963 0.00222974 0.00325581 0.000226963 0.00222974 72 transition G A G>A 1.000 1.093 A Ala GCA 0.226 T Thr ACA 0.280 17 11 6 Cat 0 0 0 0 0.71 8.I 8.VI 31 61 58 C0 215.25 0.00 Tolerated 1 III.58 good 8.442E-1 0.09216 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . . . . . . 0.53763443 . . @ 50 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.340 . @ . . . . . 1 0.239 . . 93.0 . . . 0.0002 0.0022 0.0033 0.0002 0.0022 0.0033 . -0.3441 -0.096 -0.344 c . . . . . 9.629e-04 . . . 0.0006 0.0010 8.649e-05 0 0 0.0019 0 0 0.0007 0.0009 8.916e-05 0 0.0002 0.0015 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.950 . . exonic exonic exonic . . 0.395 0.0002 . . . 0.49 0.42 182 ENSG00000138942 RNF185 RNF185 . . . 0.276 0.189 . 110 0.00169293 64976 109 0.00181709 59986 Uncertain_significance . 0 . 0.368 . . . . T 0.400 0.018 . . 37 . 0.802 . . 0.726 . . . 0.112 0.810 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.057 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.051 . . . . . 0.141 . 0.047 . HET 0.34 rs79952133 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 5.1226 2.68E-4 . V.62 III.54 . 0.630000 . . . Name\x3dnsv459871 0.002230 . 0.424 . . III.54 0.0007 0.0011 0.0004 0 0 0.0002 0.0023 0.0002 3.251e-05 0.0009 0.0015 0 0 0 0 0.0025 0 . . 0.730 . 2.665 2.665000 . . 0.630000 . . 1.0E-255 0.974 0.344 . 0.544 0.989 . 0.338 . 0.713 2.665 0.069 0.0033 . . rs79952133 rs79952133 1 1538 10 1/0 0,255,255 +. 22 31971172 A ATAT - SFI1 29064 SFI1 centrin binding protein NM_001007467.2 1 4391 3729 NP_001007468.1 A8K8P3 insertion intron GRCh37 31971173 31971174 Chr22(GRCh37):g.31971173_31971174insATT 923-44 923-43 NM_001007467.2:c.923-44_923-43insATT p.? p.? 10 9 612765 -43 3' 92.0903 8.25162 0.933784 6.12331 92.0903 8.25162 0.933784 6.0641 0 Cryptic Acceptor Strongly Activated 31971184 5.506 0.265842 75.8309 V.77 0.629669 79.2022 ATT 255 Pass . . . . . . . . . . . . . . . . 0.8596491 . . . 49 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000198089 SFI1 SFI1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,6,7 +rs78557884 22 33265194 T C - SYN3 11496 Synapsin III NM_003490.3 -1 3042 1743 NP_003481.3 O14994 substitution intron GRCh37 33265194 33265194 Chr22(GRCh37):g.33265194T>C 462-82 462-82 NM_003490.3:c.462-82A>G p.? p.? 4 3 602705 -82 3' 80.5748 5.50831 0.393572 0 80.5748 5.50831 0.393572 0 0 Cryptic Acceptor Strongly Activated 33265183 4.11976 0.024936 76.1984 5.642 0.044414 76.1984 rs78557884 yes no Frequency/1000G 2 T 0.000000 0 0.012180 0.010600 0.016400 0.021800 0.005000 0.005800 0.007565 0.014571 0.002387 0.016556 0.029630 0.000000 0.002470 0.002862 0.005102 0.029630 234 127 2 5 48 0 37 10 5 30932 8716 838 302 1620 0 14982 3494 980 0.008547 0.007874 0.000000 0.000000 0.020833 0.000000 0.000000 0.000000 0.000000 2 1 0 0 1 0 0 0 0 230 125 2 5 46 0 37 10 5 0 0 0 0 0 0 0 0 0 PASS 40 Genomes transition A G A>G 0.000 -1.409 255 PASS 0.02 0.01 0.01 0.02 0.01 0.011 0.012 0.0058 0.022 0.005 0.016 . . . . . 0.5394737 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . . . . . . . . -0.3250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0122 . . . 0.55 0.28 182 ENSG00000185666 SYN3 SYN3 . . . . . . 261 0.00401687 64976 200 0.00333411 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs78557884 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv3599 . . . . . . . . . . . . . . . 0.0146 0.0076 0.0024 0.0166 0.0296 0.0029 0.0025 0.0051 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs78557884 rs78557884 1 1538 10 1/0 0,255,255 +. 22 35812291 A C - MCM5 6948 Minichromosome maintenance complex component 5 NM_006739.3 1 2546 2205 NP_006730.2 P33992 substitution intron GRCh37 35812291 35812291 Chr22(GRCh37):g.35812291A>C 1348-41 1348-41 NM_006739.3:c.1348-41A>C p.? p.? 11 10 602696 -41 3' 75.7547 X.86 0.971743 XII.85 75.7547 X.86 0.971743 13.0561 0 Cryptic Acceptor Strongly Activated 35812298 7.18657 0.667735 79.1856 9.59876 0.881602 80.0498 35812291 -95.1711 transversion A C A>C 0.000 -1.489 255 PASS . . . . . . . . . . . . . . . . 0.47826087 . . @ 33 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 69.0 . . INTRON(MODIFIER||||MCM5|mRNA|CODING|NM_006739|) . . . . . . . -0.4594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000100297 MCM5 MCM5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs145559179 22 36537327 C T - APOL3 14868 Apolipoprotein L, 3 NM_145640.2 -1 2124 1209 NP_663615.1 O95236 substitution missense exon GRCh37 36537327 36537327 Chr22(GRCh37):g.36537327C>T 1130 1130 NM_145640.2:c.1130G>A p.Arg377Gln p.Arg377Gln 3 607253 780 3' 90.425 7.46294 0.779951 6.67357 90.425 7.46294 0.779951 6.67357 0 Apolipoprotein L rs145559179 yes no Frequency/1000G 2 C 0.000000 0 0.000799 0.000800 0.001000 0.000000 0.002000 0.000000 0.001779 0.000624 0.000959 0.000985 0.000000 0.001332 0.002732 0.001629 0.000928 0.002732 493 15 33 10 0 41 346 42 6 277164 24022 34420 10152 18866 30782 126666 25790 6466 0.000022 0.000000 0.000000 0.000000 0.000000 0.000000 0.000032 0.000078 0.000000 3 0 0 0 0 0 2 1 0 487 15 33 10 0 41 342 40 6 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8578 4404 12982 22 2 24 0.00255814 0.000453926 0.0018453 0.00255814 0.000453926 0.0018453 91 COSM4887540|COSM4887539 Upper aerodigestive tract|Upper aerodigestive tract 0.000804|0.000804 1244|1244 transition G A G>A 0.098 1.013 R Arg CGG 0.207 Q Gln CAG 0.744 377 12 2 Chimp 1 1 1 0.65 0.89 10.V 10.V 124 85 43 C0 155.40 0.00 Tolerated 0.62 II.67 good 9.131E-1 0.2618 255 PASS . 0.0009 . . 0.0026 0.0008 0.0008 . . 0.002 0.001 . . . . . 0.53205127 . . @ 83 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.126 . @ . . . . . 1 0.008 . . 156.0 . . . 0.0005 0.0018 0.0026 0.0005 0.0018 0.0026 . -1.5708 -1.469 -1.571 c . . . . . 1.721e-03 . . . 0.0006 0.0017 0.0011 0 0.0018 0.0025 0.0028 0.0015 0.0006 0.0016 0.0012 0 0.0018 0.0022 0.0014 0.0015 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.029 . . exonic exonic exonic . . 0.252 0.0008 . . . 0.36 0.7 182 ENSG00000128284 APOL3 APOL3 . . . 0.999 0.399 . 104 0.00160059 64976 100 0.00166706 59986 Uncertain_significance . 0 . 0.109 . . . . T 0.045 0.002 . . 37 . 0.008 . . 0.439 . . . 0.006 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.009 . . 0 0 0 0 0 0 . 0.222 . . 0.112 . . . . . . 0 0.024 . . . . . 0.176 . 0.218 . HET 0.78 rs145559179 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 V.88 5.35E-4 . IV.14 I.97 . 0.980000 . . . . 0.001845 . 0.003 . . . 0.0006 0.0017 0.0010 0.0010 0 0.0017 0.0024 0.0009 0.0013 0.0007 0.0027 0 0 0 0.0014 0.0049 0.0010 . . 0.522 . 0.258 0.258000 . . 0.980000 . . 1.0E-255 0.000 0.063 . 0.016 0.003 . 0.175 . 0.194 0.258 0.057 0.0026 . . rs145559179 rs145559179 1 1538 10 1/0 0,238,246 +rs150685787 22 36661733 G A - APOL1 618 Apolipoprotein L, 1 NM_145343.2 1 3017 1245 NP_663318.1 substitution missense exon GRCh37 36661733 36661733 Chr22(GRCh37):g.36661733G>A 899 899 NM_145343.2:c.899G>A p.Arg300His p.Arg300His 7 603743 537 3' 92.9989 XI.69 0.977097 11.211 92.9989 XI.69 0.977097 11.211 0 Apolipoprotein L rs150685787 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000800 0.000000 0.000000 0.004000 0.000000 0.003741 0.000542 0.000412 0.000000 0.000531 0.000101 0.003011 0.022790 0.003957 0.022790 1017 13 14 0 10 3 374 578 25 271858 23982 33940 9556 18844 29632 124224 25362 6318 0.000044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000473 0.000000 6 0 0 0 0 0 0 6 0 1005 13 14 0 10 3 374 566 25 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8580 4403 12983 20 3 23 0.00232558 0.00068089 0.00176841 0.00232558 0.00068089 0.00176841 105 transition G A G>A 0.000 -0.440 R Arg CGT 0.082 H His CAT 0.413 300 12 8 Armadillo 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 125.70 0.00 Deleterious 0.04 II.60 good 4.278E-1 0.1043 255 PASS . 0.0014 . . 0.004 0.0008 0.001 . . 0.004 . . . . . . 0.4827586 . . @ 56 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.406 . @ . . . . . 1 0.798 . . 116.0 . . . 0.0007 0.0018 0.0023 0.0007 0.0018 0.0023 . -0.5585 -0.859 -0.559 c . . . . . 3.418e-03 . . . 0.0009 0.0023 0.0003 0.0005 0.0234 0.0023 0.0029 7.493e-05 0.0007 0.0033 0.0003 0.0006 0.0225 0.0032 0.0076 7.546e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.037 . . exonic exonic exonic . . 0.054 0.0010 . . . 0.4 0.28 182 ENSG00000100342 APOL1 APOL1 . . . 0.677 0.224 . 254 0.00390914 64976 249 0.00415097 59986 Likely_benign . 0 . 0.045 . . . . . . . . . 37 . 0.099 . . 0.380 . . . 0.434 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.584 . . 0 0 0 0 0 0 . 0.899 . . 0.708 . . . . . . 0 0.198 . . . . . 0.005 . 0.160 . HET 0.2 rs150685787 . . . . . . . 0.0013736263736263737 0.0 0.0 0.0 0.00395778364116095 0.5033 8.03E-4 . 3.XII -2.84 . 0.320000 . . . . 0.001768 . 0.047 . . . 0.0005 0.0037 0.0004 0 0.0005 0.0232 0.0030 0.0032 0.0001 0.0006 0.0042 0.0012 0 0.0012 0.0200 0.0029 0.0082 . . 0.730 . -0.182 -0.182000 . . 0.320000 . . 1.0E-255 0.000 0.063 . 0.016 0.000 . 0.069 . 0.047 -0.182 -0.540 0.004 . . rs150685787 rs150685787 1 1538 10 1/0 0,252,255 +rs767626076 22 37581470 C T - C1QTNF6 14343 C1q and tumor necrosis factor related protein 6 NM_031910.3 -1 2936 837 NP_114116.3 substitution missense exon GRCh37 37581470 37581470 Chr22(GRCh37):g.37581470C>T 77 77 NM_031910.3:c.77G>A p.Gly26Asp p.Gly26Asp 2 614910 26 3' 92.6575 XII.44 0.988364 XI.65 92.6575 XII.44 0.988364 XI.61 0 rs767626076 yes no Frequency 1 C 0.000000 0 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 0.000024 3 0 0 0 0 0 3 0 0 271396 23812 33384 9824 18582 30122 124130 25238 6304 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transition G A G>A 0.000 0.044 G Gly GGT 0.162 D Asp GAT 0.461 26 13 8 Cow -1 -1 -3 0.74 I.38 9 13 3 54 94 C0 244.67 40.46 Tolerated 0.28 III.67 good 3.281E-1 0.3887 255 PASS . . . . . . . . . . . . . . . . 0.61333334 . . @ 46 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.045 . @ . . . . . 1 0.065 . . 75.0 . . . . . . . . . . -0.6900 -0.770 -0.690 c . . . . . 7.895e-06 . . . 0 1.139e-05 0 0 0 2.46e-05 0 0 . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.369 . . exonic exonic exonic . . 0.170 @ . . . . . . ENSG00000133466 C1QTNF6 C1QTNF6 . . . 1.000 0.473 . . . . . . . Uncertain_significance . 0 . 0.121 . . . . T 0.306 0.012 . . 37 . 0.262 . . 0.203 . . . 0.263 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.650 . . 0 0 0 0 0 0 . 0.320 . . 0.304 . . . . . . 0 0.247 . . . . . 0.047 . 0.304 . HET 0.04 rs767626076 . . . . . . . . . . . . II.04 . . IV.49 0.67 . 0.150000 . . . . . . 0.153 . . . 0 8.317e-06 0 0 0 0 1.832e-05 0 0 0 3.234e-05 0 0 0 0 6.678e-05 0 . . 0.730 . 0.880 0.880000 . . 0.150000 . . 1.0E-255 0.000 0.063 . 0.145 0.124 . 0.134 . 0.329 0.880 -0.064 . . . . . 1 1538 10 1/0 0,255,255 +rs62235034 22 37964429 T C - CDC42EP1 17014 CDC42 effector protein (Rho GTPase binding) 1 NM_152243.2 1 2164 1176 NP_689449.1 Q00587 substitution missense exon GRCh37 37964429 37964429 Chr22(GRCh37):g.37964429T>C 778 778 NM_152243.2:c.778T>C p.Ser260Pro p.Ser260Pro 3 606084 315 3' 88.6116 12.1371 0.991399 13.0201 88.6116 12.1371 0.991399 13.0201 0 rs62235034 yes no Frequency/1000G 2 T 0.000000 0 0.000428 0.000665 0.000428 0.000672 0.000062 0.000214 0.000524 0.000233 0.000364 0.000672 99 13 13 6 1 6 53 5 2 231314 19562 30356 8926 16230 28096 101184 21466 5494 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 99 13 13 6 1 6 53 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4156232|COSM4156232 Thyroid|Salivary gland 0.005355|0.012658 747|79 transition T C T>C 0.126 0.286 S Ser TCA 0.148 P Pro CCA 0.274 260 12 2 Chimp -1 -1 -2 I.42 0.39 9.II 8 32 32.5 74 C0 353.86 0.00 Tolerated 0.45 III.86 good 9.929E-1 0.3777 111 PASS 0.16 0.37 0.51 0.27 0.52 . . . . . . ENSG00000128283:ENST00000249014:exon3:c.T778C:p.S260P CDC42EP1:uc003asz.4:exon3:c.T778C:p.S260P CDC42EP1:NM_152243:exon3:c.T778C:p.S260P . . 0.52380955 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.027 . . 21.0 . . . . . . . . . . -1.8112 -1.876 -1.811 c . . . . . 1.344e-04 . . . 0.0006 0.0003 0 0 0 0.0003 0 0.0003 0.0007 0.0002 0 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.039 @ . ENSG00000128283.6|ENSG00000100079.5|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5|ENSG00000128283.6|ENSG00000128283.6|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Thyroid|Whole_Blood|Whole_Blood 0.2 0.41 182 ENSG00000128283 CDC42EP1 CDC42EP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.057 0.003 . . 37 . 0.000 . . 0.443 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.016 . 0.036 . HET 0.73 rs62235034 0.022 0.029 . . . . . 0.3717948717948718 0.15853658536585366 0.505524861878453 0.270979020979021 0.5224274406332454 1.0989 0.083288 ENST00000249014 I.93 -3.86 . 0.910000 Q00587 . . . . . 0.045 . . . 0.0006 0.0004 0.0004 0.0006 6.669e-05 0.0003 0.0006 0.0004 0.0002 0.0007 0.0004 0.0013 0.0038 0 0 0.0002 0 . . 0.090 . -1.081 -1.081000 . . 0.910000 . . 1.0E-111 0.000 0.063 . 0.016 0.005 . 0.044 . 0.006 -1.081 -0.301 0.52 rs62235034 rs62235034 rs62235034 rs62235034 1 1538 10 1/0 90,2,0 +rs62235034 22 37964429 T C - LGALS2 6562 Lectin, galactoside-binding, soluble, 2 NM_006498.2 -1 528 399 NP_006489.1 P05162 substitution downstream GRCh37 37964429 37964429 Chr22(GRCh37):g.37964429T>C *1841 *1841 NM_006498.2:c.*1841A>G p.? p.? 4 150571 1991 3' 76.5042 X.02 0.980364 13.4978 76.5042 X.02 0.980364 13.4978 0 Cryptic Acceptor Strongly Activated 37964417 0.000852 1.33841 0.00068 69.8814 rs62235034 yes no Frequency/1000G 2 T 0.000000 0 0.000428 0.000665 0.000428 0.000672 0.000062 0.000214 0.000524 0.000233 0.000364 0.000672 99 13 13 6 1 6 53 5 2 231314 19562 30356 8926 16230 28096 101184 21466 5494 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 99 13 13 6 1 6 53 5 2 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes COSM4156232|COSM4156232 Thyroid|Salivary gland 0.005355|0.012658 747|79 transition A G A>G 0.126 0.286 111 PASS 0.16 0.37 0.51 0.27 0.52 . . . . . . ENSG00000128283:ENST00000249014:exon3:c.T778C:p.S260P CDC42EP1:uc003asz.4:exon3:c.T778C:p.S260P CDC42EP1:NM_152243:exon3:c.T778C:p.S260P . . 0.52380955 . . @ 11 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.011 . @ . . . . . 1 0.027 . . 21.0 . . . . . . . . . . -1.8112 -1.876 -1.811 c . . . . . 1.344e-04 . . . 0.0006 0.0003 0 0 0 0.0003 0 0.0003 0.0007 0.0002 0 0 0 0.0001 0 0.0003 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.317 . . exonic exonic exonic . . 0.039 @ . ENSG00000128283.6|ENSG00000100079.5|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5|ENSG00000128283.6|ENSG00000128283.6|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5|ENSG00000100079.5|ENSG00000128283.6|ENSG00000100079.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Thyroid|Whole_Blood|Whole_Blood 0.2 0.41 182 ENSG00000128283 CDC42EP1 CDC42EP1 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.057 0.003 . . 37 . 0.000 . . 0.443 . . . 0.004 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.136 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 1 0.010 . . . . . 0.016 . 0.036 . HET 0.73 rs62235034 0.022 0.029 . . . . . 0.3717948717948718 0.15853658536585366 0.505524861878453 0.270979020979021 0.5224274406332454 1.0989 0.083288 ENST00000249014 I.93 -3.86 . 0.910000 Q00587 . . . . . 0.045 . . . 0.0006 0.0004 0.0004 0.0006 6.669e-05 0.0003 0.0006 0.0004 0.0002 0.0007 0.0004 0.0013 0.0038 0 0 0.0002 0 . . 0.090 . -1.081 -1.081000 . . 0.910000 . . 1.0E-111 0.000 0.063 . 0.016 0.005 . 0.044 . 0.006 -1.081 -0.301 0.52 rs62235034 rs62235034 rs62235034 rs62235034 1 1538 10 1/0 90,2,0 +rs368646208 22 38229812 C T - ANKRD54 25185 Ankyrin repeat domain 54 NM_138797.3 -1 2200 903 NP_620152.1 Q6NXT1 substitution intron GRCh37 38229812 38229812 Chr22(GRCh37):g.38229812C>T 476-50 476-50 NM_138797.3:c.476-50G>A p.? p.? 4 3 613383 -50 3' 85.427 VI.48 0.854712 9.91935 85.427 VI.48 0.854712 9.69074 0 Cryptic Donor Strongly Activated 38229815 0.00583 58.4146 3.13833 0.200722 62.777 rs368646208 yes no Frequency/1000G 2 C 0.000000 0 0.000200 0.000000 0.001000 0.000000 0.000000 0.000000 0.000463 0.000042 0.000585 0.000997 0.000000 0.000165 0.000683 0.000000 0.000782 0.000997 126 1 20 10 0 5 85 0 5 272230 23692 34170 10030 18754 30348 124378 24466 6392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 126 1 20 10 0 5 85 0 5 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4406 12997 7 0 7 0.000814143 0 0.000538296 0.000814143 0 0.000538296 40 transition G A G>A 0.000 -0.279 255 PASS . . . . . . 0.0002 . . . 0.001 . . . . . 0.54 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 50.0 . . . . 0.0005 0.0008 . 0.0005 0.0008 . -0.1001 . . . . . . . . 5.131e-04 . . . 0 0.0005 0.0006 0 0 0.0009 0.0028 0.0001 0 0.0005 0.0006 0 0 0.0007 0.0015 0.0001 . . . . . . intronic intronic intronic . . . 0.0002 . . . 0.27 0.05 182 ENSG00000100124 ANKRD54 ANKRD54 . . . . . . 17 0.000261635 64976 16 0.000266729 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs368646208 . . . . . . . . . . . . . . . . . . . . . . . 0.000538 . . . . . 6.68e-05 0.0005 0.0005 0.0010 0 0 0.0007 0.0007 0.0002 0 0.0004 0.0024 0 0 0 0.0007 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0008 . . rs368646208 rs368646208 1 1538 10 1/0 0,255,255 +. 22 38313566 TG T - MICALL1 29804 MICAL-like 1 NM_033386.3 1 4495 2592 NP_203744.1 Q8N3F8 deletion intron GRCh37 38313566 38313566 Chr22(GRCh37):g.38313566del 338-148 338-148 NM_033386.3:c.338-148del p.? p.? 4 3 -148 3' 83.7776 X.02 0.936701 X.28 83.7776 X.02 0.936701 X.28 0 Cryptic Acceptor Strongly Activated 38313572 II.56 0.000112 56.6966 2.81195 0.000318 60.8203 G 255 Pass . . . . . . . . . . . . . . . . 0.29787233 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 47 . . INTRON(MODIFIER||||MICALL1|mRNA|CODING|NM_033386|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000100139 MICALL1 MICALL1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv915035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,53 +rs76230437 22 38478804 A G - SLC16A8 16270 Solute carrier family 16, member 8 (monocarboxylic acid transporter 3) NM_013356.2 -1 1896 1515 NP_037488.2 O95907 substitution missense exon GRCh37 38478804 38478804 Chr22(GRCh37):g.38478804A>G 77 77 NM_013356.2:c.77T>C p.Phe26Ser p.Phe26Ser 2 610409 85 3' 75.4837 XI.41 0.85806 X.48 75.4837 XI.41 0.85806 X.48 0 Major facilitator superfamily Monocarboxylate transporter Major facilitator superfamily domain rs76230437 yes no Frequency/1000G 2 A 0.000000 0 0.005192 0.000000 0.025600 0.000000 0.001000 0.000000 0.002741 0.000100 0.001171 0.002509 0.000060 0.014248 0.001528 0.000217 0.001611 0.014248 635 2 36 23 1 403 157 4 9 231688 20048 30754 9166 16714 28284 102734 18402 5586 0.000052 0.000000 0.000065 0.000000 0.000000 0.000354 0.000000 0.000000 0.000000 6 0 1 0 0 5 0 0 0 623 2 34 23 1 393 157 4 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8010 4034 12044 10 0 10 0.00124688 0 0.0008296 0.00124688 0 0.0008296 8 transition T C T>C 1.000 4.564 F Phe TTT 0.454 S Ser TCT 0.185 26 17 16 Baker's yeast -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C55 21.82 141.80 Deleterious 0 II.57 255 PASS . 0.0009 . . 0.0026 . 0.0052 . . 0.001 0.026 . SLC16A8:uc003auu.3:exon2:c.T77C:p.F26S SLC16A8:NM_013356:exon2:c.T77C:p.F26S . . 0.5208333 . . @ 25 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.899 . @ . . . . . 1 0.926 . . 48.0 . . . . 0.0008 0.0012 . 0.0008 0.0012 . 0.8008 0.705 0.801 c . . . . . 2.807e-03 . . . 0 0.0073 0.0020 0.0003 0 0.0037 0.0036 0.0189 0 0.0062 0.0025 0.0003 0.0009 0.0026 0.0035 0.0189 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.453 . . exonic exonic exonic . . 0.532 0.0052 . . . 0.55 0.52 182 ENSG00000100156 SLC16A8 SLC16A8 . . . 1.000 0.747 . 72 0.0011081 64976 48 0.000800187 59986 Uncertain_significance . 0 . 0.629 . . . . . . . . . 37 . 0.691 . . 0.774 . . . 0.937 0.588 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.958 . . 0 0 0 0 0 0 . 0.899 . . 0.818 . . . . . . 1 0.912 . . . . . 0.639 . 0.930 . HET 0 rs76230437 . . . . . . . 9.157509157509158E-4 0.0 0.0 0.0 0.002638522427440633 14.0178 0.0 . IV.45 IV.45 . 0.000000 O95907 . . . 0.000830 . 0.606 . . IV.45 0.0002 0.0030 0.0011 0.0025 6.626e-05 6.705e-05 0.0016 0.0009 0.0142 0 0.0008 0.0024 0.0033 0 0.0009 0.0009 0.0051 . . 0.340 . 1.788 1.788000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.888 0.999 . 0.779 . 0.909 1.788 1.062 0.0026 . . rs76230437 rs76230437 1 1538 10 1/0 0,255,255 +rs57732048 22 40043877 C A - CACNA1I 1396 Calcium channel, voltage-dependent, T type, alpha 1I subunit NM_021096.3 1 10002 6672 NP_066919.2 Q9P0X4 substitution missense exon GRCh37 40043877 40043877 Chr22(GRCh37):g.40043877C>A 1513 1513 NM_021096.3:c.1513C>A p.His505Asn p.His505Asn 9 608230 51 3' 86.0667 9.54358 0.847257 3.66757 86.0667 9.54358 0.847257 3.61458 0 rs57732048 yes no Frequency/1000G 2 C 0.000000 0 0.002396 0.000000 0.000000 0.000000 0.007000 0.007200 0.004177 0.001041 0.004445 0.005619 0.000000 0.000000 0.006811 0.001360 0.004812 0.006811 1147 25 153 57 0 0 846 35 31 274604 24006 34420 10144 18866 30782 124212 25732 6442 0.000051 0.000000 0.000058 0.000000 0.000000 0.000000 0.000081 0.000000 0.000310 7 0 1 0 0 0 5 0 1 1133 25 151 57 0 0 836 35 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8169 3841 12010 55 9 64 0.00668774 0.00233766 0.00530065 0.00668774 0.00233766 0.00530065 66 transversion C A C>A 0.000 -0.844 H His CAT 0.413 N Asn AAT 0.464 505 12 3 Orangutan 1 1 1 0.58 I.33 10.IV 11.VI 96 56 68 C0 353.86 0.00 Tolerated 0.33 IV.32 good 9.083E-1 0.5461 255 PASS . 0.0037 0.01 . 0.01 . 0.0024 0.0072 . 0.007 . . . CACNA1I:NM_021096:exon9:c.C1513A:p.H505N . . 0.65625 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.019 . @ . . . . . 1 0.015 . . 64.0 . . . 0.0023 0.0053 0.0067 0.0023 0.0053 0.0067 . -1.8334 -1.858 -1.833 c . . . . . 4.074e-03 . . . 0.0013 0.0045 0.0036 0 0.0011 0.0082 0.0014 6.06e-05 0.0014 0.0040 0.0035 0 0.0017 0.0066 0.0029 6.095e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.965 . . exonic exonic exonic . . 0.039 0.0024 . . . 0.13 0.35 182 ENSG00000100346 CACNA1I CACNA1I . . . 0.868 0.253 . 465 0.00715649 64976 453 0.00755176 59986 Likely_benign . 0 . 0.002 . . . . D 0.500 0.027 . . 37 . 0.797 . . 0.810 . . . 0.145 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.047 . . 0 0 0 0 0 0 . 0.119 . . 0.112 . . . . . . 1 0.106 . . . . . 0.074 . 0.092 . HET 0.2 rs57732048 . . . . . . . 0.003663003663003663 0.0 0.0055248618784530384 0.0 0.0079155672823219 III.56 0.0019 . II.66 -3.87 . 0.510000 . . . . 0.005301 . 0.006 . . . 0.0011 0.0043 0.0043 0.0058 0 0.0014 0.0070 0.0053 0 0.0009 0.0032 0.0084 0 0 0.0011 0.0053 0.0020 . . 0.185 . -0.809 -0.809000 . . 0.510000 . . 1.0E-255 0.000 0.063 . 0.016 0.015 . 0.058 . 0.008 -0.809 0.545 0.01 rs57732048 rs57732048 rs57732048 rs57732048 1 1538 10 1/0 0,255,255 +rs560421633 22 42306100 G C - SHISA8 18351 Shisa family member 8 NM_001353438.1 -1 2136 1479 NP_001340367.1 B8ZZ34 substitution missense exon GRCh37 42306100 42306100 Chr22(GRCh37):g.42306100G>C 1148 1148 NM_001353438.1:c.1148C>G p.Pro383Arg p.Pro383Arg 4 617329 52 3' 79.5014 13.1096 0.882264 14.9169 79.5014 13.1096 0.882264 14.5301 0 rs560421633 yes no Frequency/1000G 2 G 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.004000 0.002900 0.003101 0.001041 0.007463 0.003311 0.000000 0.000000 0.004886 0.000895 0.003086 0.007463 95 9 6 1 0 0 73 3 3 30638 8646 804 302 1620 0 14942 3352 972 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 95 9 6 1 0 0 73 3 3 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes transversion C G C>G 0.992 1.739 P Pro CCG 0.115 R Arg CGG 0.207 383 12 6 Armadillo -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 353.86 0.00 Tolerated 0.22 III.58 255 PASS . . . . . . 0.0012 0.0029 . 0.004 . . SHISA8:uc021wqh.1:exon4:c.C863G:p.P288R SHISA8:NM_001207020:exon4:c.C863G:p.P288R . . 0.3809524 . . @ 8 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.153 . @ . . . . . 1 0.039 . . 21.0 . . . . . . . . . . I.63 2.876 1.256 n . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . intergenic exonic exonic . . 0.324 0.0012 . . . . . . . SHISA8 SHISA8 dist\x3d2788\x3bdist\x3d1197 . . 1.000 0.747 . 158 0.00243167 64976 152 0.00253392 59986 Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . 0.065 . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . 0.291 . 0.258 . HET . rs560421633 . . . . . . . . . . . . . . . . . . . . . . . . . 0.314 . . II.87 . 0 . . . . 0 . . 0.0010 0.0031 0.0075 0.0033 0 0.0009 0.0049 0.0031 . . 0.042 . . . . . . . . 1.0E-255 0.001 0.137 . 0.104 0.020 . 0.149 . 0.175 . -0.065 . . . . . 1 1538 10 1/0 0,255,255 +rs149790551 22 42899170 A C - SERHL 14408 Serine hydrolase-like NR_027786.1 1 1357 0 substitution intron GRCh37 42899170 42899170 Chr22(GRCh37):g.42899170A>C 441-35 441-35 NR_027786.1:n.441-35A>C p.? p.? 6 5 607979 -35 3' 75.4047 7.16409 0.739918 8.99566 75.4047 7.16409 0.739918 9.43372 0 42899170 -78.984 rs149790551 yes no Frequency/1000G 2 A 0.000000 0 0.172724 0.246600 0.040900 0.467300 0.016900 0.015900 0.000009 0.000000 0.000031 0.000000 0.000000 0.000000 0.000009 0.000000 0.000000 0.000031 2 0 1 0 0 0 1 0 0 224768 8796 32704 9244 3452 25782 115738 23388 5664 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion A C A>C 0.000 -0.037 255 PASS 0.23 0.17 0.04 0.37 0.04 0.25 0.17 0.016 0.47 0.017 0.041 . . . . . 0.875 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||SERHL|Non-coding_transcript|NON_CODING|NR_027786|) . . . . . . . -0.2243 . . . . . . . . 2.733e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.1727 . . . 0.24 0.13 182 ENSG00000172250 SERHL SERHL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs149790551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.861e-06 3.126e-05 0 0 0 0 0 0 0 5.253e-05 0 0 0 0 8.319e-05 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.37 rs3788588 rs3788588 rs3788588 rs149790551 1 1538 10 1/0 0,255,255 +rs3788589 22 42899171 T C - SERHL 14408 Serine hydrolase-like NR_027786.1 1 1357 0 substitution intron GRCh37 42899171 42899171 Chr22(GRCh37):g.42899171T>C 441-34 441-34 NR_027786.1:n.441-34T>C p.? p.? 6 5 607979 -34 3' 75.4047 7.16409 0.739918 8.99566 75.4047 7.16409 0.739918 8.77098 0 rs3788589 yes no Frequency/1000G 2 T 0.000000 0 0.173123 0.248100 0.040900 0.467300 0.016900 0.015900 0.000022 0.000114 0.000031 0.000000 0.000000 0.000000 0.000026 0.000000 0.000000 0.000114 5 1 1 0 0 0 3 0 0 224254 8766 32528 9234 3420 25694 115616 23352 5644 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 1 1 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 -0.682 255 PASS . . . . . 0.25 0.17 0.016 0.47 0.017 0.041 . . . . . 0.875 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 8.0 . . INTRON(MODIFIER||||SERHL|Non-coding_transcript|NON_CODING|NR_027786|) . . . . . . . -0.2181 . . . . . . . . 3.552e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . 0.1731 . . . 0.25 0.16 182 ENSG00000172250 SERHL SERHL . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs3788589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.744e-06 3.143e-05 0 0 0 9.653e-06 0 0 0.0004 0.0002 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs3788589 rs3788589 rs3788589 rs145749508 1 1538 10 1/0 0,255,255 +. 22 42951976 GT G - SERHL2 29446 Serine hydrolase-like 2 NM_014509.4 1 1431 945 NP_055324.2 Q9H4I8 deletion intron GRCh37 42951977 42951977 Chr22(GRCh37):g.42951977del 329-93 329-93 NM_014509.4:c.329-93del p.? p.? 5 4 -93 3' 92.0126 X.02 0.987205 10.667 92.0126 X.02 0.987205 10.667 0 T 255 Pass . . . . . . . . . . . . . . . . 0.13084112 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intronic . . . . . . . . . . ENSG00000182841 RRP7B SERHL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,5,88 +rs543882404 22 42951979 C G - SERHL2 29446 Serine hydrolase-like 2 NM_014509.4 1 1431 945 NP_055324.2 Q9H4I8 substitution intron GRCh37 42951979 42951979 Chr22(GRCh37):g.42951979C>G 329-91 329-91 NM_014509.4:c.329-91C>G p.? p.? 5 4 -91 3' 92.0126 X.02 0.987205 10.667 92.0126 X.02 0.987205 10.667 0 transversion C G C>G 0.000 -0.117 218 PASS . . . . . . . . . . . . . . . . 0.10218978 . . @ 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 137.0 . . . . . . . . . . 0.5075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic intronic . . . 0.3347 . . . . . . ENSG00000182841 RRP7B SERHL2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs758811236 22 45574342 A G - NUP50 8065 Nucleoporin 50kDa NM_007172.3 1 5225 1407 NP_009103.2 Q9UKX7 substitution synonymous exon GRCh37 45574342 45574342 Chr22(GRCh37):g.45574342A>G 564 564 NM_007172.3:c.564A>G p.Lys188= p.Lys188Lys 5 604646 224 3' 86.2063 7.58047 0.980148 0 86.2063 7.58047 0.980148 0 0 New Acceptor Site 45574343 6.03778 0.012664 77.2141 Nuclear pore complex, NUP2/50/61 rs758811236 yes no Frequency 1 A 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 245368 15164 33578 9824 17242 30774 111020 22296 5470 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 64 Exomes COSM5427697|COSM5427697 Liver|Haematopoietic and lymphoid tissue 0.000844|0.000283 2371|3530 transition A G A>G 0.992 0.044 K Lys AAA 0.425 K Lys AAG 0.575 188 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . I.58 . . . . . . . . 2.368e-05 . . . 0 2.244e-05 0 0 0 0 0 0.0001 0 2.869e-05 0 0 0 1.872e-05 0 0.0001 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.64 0.57 182 ENSG00000093000 NUP50 NUP50 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs758811236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . rs13209197 rs13209197 rs13209197 rs13209197 1 1538 10 1/0 0,236,255 +rs199713755 22 45574426 A G - NUP50 8065 Nucleoporin 50kDa NM_007172.3 1 5225 1407 NP_009103.2 Q9UKX7 substitution synonymous exon GRCh37 45574426 45574426 Chr22(GRCh37):g.45574426A>G 648 648 NM_007172.3:c.648A>G p.Ala216= p.Ala216Ala 5 604646 308 3' 86.2063 7.58047 0.980148 0 86.2063 7.58047 0.980148 0 0 Nuclear pore complex, NUP2/50/61 rs199713755 yes no Frequency 1 G 0.000000 0 0.000004 0.000000 0.000000 0.000000 0.000000 0.000000 0.000008 0.000000 0.000000 0.000008 1 0 0 0 0 0 1 0 0 274740 23470 34310 10126 18726 30750 125228 25726 6404 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM4300432|COSM4300432 Liver|Haematopoietic and lymphoid tissue 0.000422|0.000567 2371|3530 transition A G A>G 0.000 -1.086 A Ala GCA 0.226 A Ala GCG 0.107 216 179 PASS . . . . . . . . . . . . . . . . 0.11111111 . . @ 9 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 81.0 . . . . . . . . . . 0.0005 . . . . . . . . 1.184e-04 . . . 0 5.571e-05 0 0.0002 0 9.612e-05 0 0 0 9.519e-06 0 0.0001 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.6 0.44 182 ENSG00000093000 NUP50 NUP50 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs199713755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.079e-06 0 0 0 0 9.019e-06 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . rs199713755 rs199713755 1 1538 10 1/0 0,236,255 +rs796770204 22 45577411 A T - NUP50 8065 Nucleoporin 50kDa NM_007172.3 1 5225 1407 NP_009103.2 Q9UKX7 substitution intron GRCh37 45577411 45577411 Chr22(GRCh37):g.45577411A>T 1085+163 1085+163 NM_007172.3:c.1085+163A>T p.? p.? 6 6 604646 163 5' 82.2284 6.91262 0.98339 1.27092 82.2284 6.91262 0.98339 1.27092 0 Cryptic Acceptor Strongly Activated 45577420 1.61945 0.005507 70.9178 II.88 0.061789 76.6262 rs796770204 no no 0 A 0.000000 0 transversion A T A>T 0.000 -0.360 236 PASS . . . . . . . . . . . . . . . . 0.26086956 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 23.0 . . . . . . . . . . -0.0697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000093000 NUP50 NUP50 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-236 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs112368657 22 45724286 C G - FAM118A 1313 Family with sequence similarity 118 member A NM_001349916.1 1 3345 1116 NP_001336845.1 substitution intron GRCh37 45724286 45724286 Chr22(GRCh37):g.45724286C>G 564+342 564+342 NM_001349916.1:c.564+342C>G p.? p.? 6 6 342 5' 84.5009 IX.03 0.990952 9.68132 84.5009 IX.03 0.990952 9.68132 0 New Donor Site 45724285 II.29 0.062228 67.8181 rs112368657 yes no Frequency 1 0.000000 0 0.000227 0.000000 0.000264 0.000000 0.000269 0.000163 0.000297 0.000245 0.000000 0.000297 60 0 9 0 5 5 35 6 0 264718 22784 34054 9918 18594 30700 118020 24490 6158 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 60 0 9 0 5 5 35 6 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion C G C>G 0.000 -0.198 241 PASS . . . . . . . . . . . ENSG00000100376:ENST00000405673:exon5:c.C536G:p.A179G . . . . 0.2753623 . . @ 57 . . 1.2.2016 . . . . . . . . . . . . . . . . . . 0.100 . @ . . . . . 2 0.254 . . 207.0 . . . . . . . . . . -0.9516 -1.199 -0.952 c . . . . . 5.251e-04 . . . 0.0002 0.0006 8.845e-05 0.0013 0 0.0010 0 0.0003 0.0001 0.0006 9.086e-05 0.0010 0 0.0009 0.0015 0.0003 nonsynonymous_SNV . . 0.522 . . exonic intronic intronic . . 0.099 @ . . . 0.2 0.09 182 ENSG00000100376 FAM118A FAM118A . . . 0.794 0.240 . . . . . . . . . 0 . . . . . . T 0.041 0.002 . . 37 . 0.301 . . 0.270 . . . . 0.090 . . . . . . . . . . . . . . . 0.129 . . . . . . 0 . . . . . . . . . . . . 0 0.218 . . . . . . . 0.084 . HET 0.19 rs112368657 . . . . . . . . . . . . . 0.0 ENST00000405673 0.455 -0.91 . 0.410000 . . . . . . 0.022 . . . 0 0.0002 0.0002 0 0.0003 0 0.0003 0 0.0002 0 0.0005 0.0045 0 0 0.0025 0.0003 0 . . 0.730 . -0.210 -0.210000 . . 0.410000 . . 1.0E-241 0.000 0.063 . 0.074 0.054 . 0.099 . 0.248 -0.210 0.135 . . . rs112368657 rs112368657 1 1538 10 1/0 0,212,255 +. 22 46449749 G A - PRR34 25606 Proline rich 34 NM_018280.2 -1 1836 417 NP_060750.1 Q9NV39 substitution synonymous exon GRCh37 46449749 46449749 Chr22(GRCh37):g.46449749G>A 225 225 NM_018280.2:c.225C>T p.Pro75= p.Pro75Pro 1 -120 5' 76.1965 4.51291 0.326284 8.84937 76.1965 4.51291 0.326284 8.84937 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 79218 2608 9976 4882 3860 13964 37058 4958 1912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 37 Exomes transition C T C>T 0.992 0.286 P Pro CCC 0.328 P Pro CCT 0.283 75 255 PASS . . . . . . . . . . . . C22orf26:uc003bgq.1:exon1:c.C225T:p.P75P PRR34:NM_018280:exon1:c.C225T:p.P75P . . 0.6333333 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . I.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000182257 C22orf26 PRR34 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. 22 46449749 G A - PRR34-AS1 50499 PRR34 antisense RNA 1 NR_027034.1 1 1635 0 substitution exon GRCh37 46449749 46449749 Chr22(GRCh37):g.46449749G>A 24 24 NR_027034.1:n.24G>A 1 -52 5' 90.3122 9.15773 0.986589 XII.93 90.3122 9.15773 0.986589 XI.04 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 79218 2608 9976 4882 3860 13964 37058 4958 1912 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 37 Exomes transition G A G>A 0.992 0.286 255 PASS . . . . . . . . . . . . C22orf26:uc003bgq.1:exon1:c.C225T:p.P75P PRR34:NM_018280:exon1:c.C225T:p.P75P . . 0.6333333 . . @ 19 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 30.0 . . . . . . . . . . I.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000182257 C22orf26 PRR34 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs150812606 22 46656275 G C - PKDREJ 9015 Polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) NM_006071.1 -1 7660 6762 NP_006062.1 Q9NTG1 substitution missense exon GRCh37 46656275 46656275 Chr22(GRCh37):g.46656275G>C 2945 2945 NM_006071.1:c.2945C>G p.Thr982Arg p.Thr982Arg 1 604670 rs150812606 yes no Frequency/1000G 2 G 0.000000 0 0.000200 0.000000 0.000000 0.000000 0.001000 0.000000 0.000242 0.000042 0.000145 0.000000 0.000000 0.000000 0.000418 0.000310 0.000000 0.000418 67 1 5 0 0 0 53 8 0 277236 24030 34420 10152 18870 30782 126720 25794 6468 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 67 1 5 0 0 0 53 8 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8596 4406 13002 4 0 4 0.000465116 0 0.00030755 0.000465116 0 0.00030755 144 transversion C G C>G 0.000 0.448 T Thr ACA 0.280 R Arg AGA 0.205 982 13 10 Chicken -1 -1 -2 0.71 0.65 8.VI 10.V 61 124 71 C0 353.86 0.00 Deleterious 0.01 III.19 bad 8.931E-6 6.485E-5 255 PASS . 0.0005 . . 0.0013 . 0.0002 . . 0.001 . ENSG00000130943:ENST00000253255:exon1:c.C2945G:p.T982R PKDREJ:uc003bhh.3:exon1:c.C2945G:p.T982R PKDREJ:NM_006071:exon1:c.C2945G:p.T982R . . 0.4864865 . . @ 54 . . 1.2.2016 0 0 0 0 0 0 0 0 0 1 0 0 . . . . . . 0.214 . @ . . . . . 1 0.395 . . 111.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T982R|PKDREJ|mRNA|CODING|NM_006071|NM_006071.ex.1) . 0.0003 0.0005 . 0.0003 0.0005 . -0.5035 -0.622 -0.504 c . . . . . 1.894e-04 . . . 9.626e-05 0.0002 8.646e-05 0 0.0008 0.0004 0 0 0.0001 0.0002 8.916e-05 0 0.0005 0.0002 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.456 . . exonic exonic exonic . . 0.341 0.0002 . . . 0.27 0.33 182 ENSG00000130943 PKDREJ PKDREJ . . . 0.999 0.399 . 13 0.000200074 64976 12 0.000200047 59986 Uncertain_significance . 0 . 0.364 . . . . T 0.330 0.013 . . 37 . 0.338 . . 0.342 . . . 0.702 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.655 . . 0 0 0 0 0 0 . 0.433 . . 0.350 . . . . . . 0 0.632 . . . . . 0.233 . 0.338 . HET 0 rs150812606 . . . . . . . 4.578754578754579E-4 0.0 0.0 0.0 0.0013192612137203166 VI.27 0.0 ENST00000253255 V.18 3.V . 0.010000 Q9NTG1 . . . 0.000308 . 0.139 . . 3.V 6.534e-05 0.0002 0.0001 0 0 0.0003 0.0004 0 0 0 0.0004 0.0012 0 0 0.0006 0.0005 0 . . 0.083 . 0.679 0.679000 . . 0.010000 . . 1.0E-255 0.007 0.175 . 0.043 0.015 . 0.328 . 0.084 0.679 0.917 0.0013 . . rs150812606 rs150812606 1 1538 10 1/0 0,254,255 +rs35883013 22 46681141 G A - TTC38 26082 Tetratricopeptide repeat domain 38 NM_017931.2 1 2610 1410 NP_060401.2 Q5R3I4 substitution missense exon GRCh37 46681141 46681141 Chr22(GRCh37):g.46681141G>A 799 799 NM_017931.2:c.799G>A p.Glu267Lys p.Glu267Lys 9 4 3' 97.2489 3.73051 0.937524 1.81078 97.2489 3.73051 0.918247 1.43176 -0.00685387 rs35883013 yes no Frequency/1000G 2 G 0.000000 0 0.002995 0.000800 0.001000 0.000000 0.005000 0.011500 0.006865 0.001499 0.003951 0.016552 0.000053 0.000845 0.010062 0.008222 0.007583 0.016552 1903 36 136 168 1 26 1275 212 49 277192 24018 34418 10150 18866 30782 126710 25786 6462 0.000065 0.000000 0.000000 0.000394 0.000000 0.000000 0.000079 0.000155 0.000000 9 0 0 2 0 0 5 2 0 1885 36 136 164 1 26 1265 208 49 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8189 3883 12072 87 9 96 0.0105123 0.00231244 0.00788955 0.0105123 0.00231244 0.00788955 120 COSM6468229 Lung 0.000419 2389 transition G A G>A 0.882 2.627 E Glu GAA 0.417 K Lys AAA 0.425 267 12 8 C. elegans 1 1 1 0.92 0.33 12.III 11.III 83 119 56 C0 61.28 51.63 Deleterious 0.04 III.41 good 1.925E-1 0.008981 255 PASS . 0.0032 0.01 . 0.004 0.0008 0.003 0.011 . 0.005 0.001 . . TTC38:NM_017931:exon9:c.G799A:p.E267K . . 0.45454547 . . @ 35 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.580 . @ . . . . . 1 0.872 . . 77.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E267K|TTC38|mRNA|CODING|NM_017931|NM_017931.ex.9) 0.0023 0.0079 0.011 0.0023 0.0079 0.011 . -0.0422 -0.006 -0.042 c . . . . . 6.420e-03 . . . 0.0019 0.0065 0.0033 0 0.0074 0.0113 0.0071 0.0010 0.0018 0.0057 0.0033 0 0.0064 0.0091 0.0058 0.0010 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.282 . . exonic exonic exonic . . 0.669 0.0030 . . . 0.58 0.25 182 ENSG00000075234 TTC38 TTC38 . . . 0.991 0.322 . 421 0.00647932 64976 406 0.00676825 59986 Uncertain_significance . 0 . 0.305 . . . . . . . . . 37 . 0.636 . . 0.710 . . . 0.622 0.383 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.553 . . 0 0 0 0 0 0 . 0.339 . . 0.297 . . . . . . 0 0.555 . . . . . 0.882 . 0.199 . HET 0.02 rs35883013 . 0.014 . . . . . 0.003205128205128205 0.0 0.011049723756906077 0.0 0.00395778364116095 17.7081 0.002812 . 5.III 5.III . 0.150000 . . . . 0.007890 . 0.671 . . 5.III 0.0018 0.0067 0.0037 0.0166 5.798e-05 0.0085 0.0097 0.0073 0.0008 0.0009 0.0081 0.0155 0.0166 0 0.0063 0.0129 0.0092 . . 0.730 . 2.491 2.491000 . . 0.150000 . . 1.0E-255 1.000 0.715 . 0.160 0.902 . 0.668 . 0.613 2.491 0.917 0.011 rs35883013 rs35883013 rs35883013 rs35883013 1 1538 10 1/0 0,255,255 +. (chr22:49661449 G/C) 22 49661449 G C Not on a known gene +rs796301968 (chr22:49661692 A/G) 22 49661692 A G Not on a known gene +rs866533116 (chr22:49661777 C/T) 22 49661777 C T Not on a known gene +. (chr22:49661779 G/C) 22 49661779 G C Not on a known gene +rs867939078 (chr22:49661878 G/C) 22 49661878 G C Not on a known gene +. (chr22:49661889 G/C) 22 49661889 G C Not on a known gene +. (chr22:49661989 A/G) 22 49661989 A G Not on a known gene +. (chr22:49662020 G/A) 22 49662020 G A Not on a known gene +rs867172050 (chr22:49662022 G/A) 22 49662022 G A Not on a known gene +rs866322099 (chr22:49662054 C/T) 22 49662054 C T Not on a known gene +. (chr22:49662094 G/A) 22 49662094 G A Not on a known gene +rs369965245 (chr22:49662142 G/C) 22 49662142 G C Not on a known gene +. (chr22:49662153 G/C) 22 49662153 G C Not on a known gene +rs78441842 (chr22:49662154 G/A) 22 49662154 G A Not on a known gene +rs867817902 (chr22:49662206 C/T) 22 49662206 C T Not on a known gene +rs868151360 (chr22:49662208 G/C) 22 49662208 G C Not on a known gene +rs866955819 (chr22:49662219 G/C) 22 49662219 G C Not on a known gene +rs377505644 (chr22:49662220 G/A) 22 49662220 G A Not on a known gene +. (chr22:49662226 G/A) 22 49662226 G A Not on a known gene +rs371036218 (chr22:49662285 G/C) 22 49662285 G C Not on a known gene +rs149368184 22 50277494 G A - ZBED4 20721 Zinc finger, BED-type containing 4 NM_014838.2 1 6886 3516 NP_055653.2 O75132 substitution missense exon GRCh37 50277494 50277494 Chr22(GRCh37):g.50277494G>A 184 184 NM_014838.2:c.184G>A p.Gly62Ser p.Gly62Ser 2 612552 513 3' 87.3697 9.92772 0.990339 XI.51 87.3697 9.92772 0.990339 XI.51 0 rs149368184 yes no Frequency/1000G 2 G 0.000000 0 0.006989 0.000000 0.029700 0.001000 0.003000 0.002900 0.005448 0.001291 0.001259 0.002285 0.000053 0.026369 0.004196 0.001476 0.004502 0.026369 1505 31 43 23 1 810 530 38 29 276244 24008 34160 10066 18792 30718 126316 25742 6442 0.000101 0.000083 0.000000 0.000000 0.000000 0.000846 0.000000 0.000000 0.000000 14 1 0 0 0 13 0 0 0 1477 29 43 23 1 784 530 38 29 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8564 4399 12963 36 7 43 0.00418605 0.00158874 0.00330617 0.00418605 0.00158874 0.00330617 105 transition G A G>A 0.000 -0.521 G Gly GGT 0.162 S Ser AGT 0.149 62 15 5 Cat 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 353.86 0.00 Tolerated 0.64 III.88 unknown 0.0 0.0 255 PASS . 0.0014 0.0028 . 0.0026 . 0.007 0.0029 0.001 0.003 0.03 ENSG00000100426:ENST00000216268:exon2:c.G184A:p.G62S . ZBED4:NM_014838:exon2:c.G184A:p.G62S . . 0.4967742 . . @ 77 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.091 . . 155.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G62S|ZBED4|mRNA|CODING|NM_014838|NM_014838.ex.2) 0.0016 0.0033 0.0042 0.0016 0.0033 0.0042 . -1.7215 -1.795 -1.721 c . . . . . 5.975e-03 . . . 0.0009 0.0070 0.0011 0.0002 0.0011 0.0041 0.0098 0.0260 0.0010 0.0065 0.0012 0.0001 0.0014 0.0042 0.0115 0.0261 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.411 . . exonic exonic exonic . . 0.008 0.0070 . . . 0.24 0.25 182 ENSG00000100426 ZBED4 ZBED4 . . . 1.000 0.448 . 251 0.00386296 64976 216 0.00360084 59986 Likely_benign . 0 . 0.075 . . . . . . . . . 37 . 0.184 . . 0.366 . . . 0.145 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.064 . . 0 0 0 0 0 0 . 0.188 . . 0.139 . . . . . . 0 0.219 . . . . . 0.541 . 0.103 . HET 0.31 rs149368184 . . . . . . . 0.0013736263736263737 0.0 0.0027624309392265192 0.0 0.002638522427440633 12.308 0.001338 ENST00000216268 V.31 -8.46 . 0.670000 O75132 . . . 0.003306 . 0.029 . . . 0.0011 0.0058 0.0013 0.0024 5.823e-05 0.0015 0.0043 0.0042 0.0264 0.0016 0.0024 0.0012 0 0 0.0014 0.0031 0.0061 . . 0.609 . -2.295 -2.295000 . . 0.670000 . . 1.0E-255 0.000 0.063 . 0.016 0.001 . 0.062 . 0.100 -2.295 0.045 0.0042 . . rs149368184 rs149368184 1 1538 10 1/0 0,238,251 +. 22 50297614 T C - ALG12 19358 Asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) NM_024105.3 -1 2375 1467 NP_077010.1 Q9BV10 substitution missense exon GRCh37 50297614 50297614 Chr22(GRCh37):g.50297614T>C 1339 1339 NM_024105.3:c.1339A>G p.Thr447Ala p.Thr447Ala 10 607144 101 3' 85.4153 9.18571 0.948958 7.42387 85.4153 9.18571 0.948958 7.42387 0 rs996114708 no no 0 T 0.000000 0 0.000032 0.000000 0.000000 0.000000 0.000000 0.000000 0.000067 0.000000 0.000000 0.000067 1 0 0 0 0 0 1 0 0 30904 8714 838 302 1620 0 14958 3492 980 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 PASS 42 Genomes transition A G A>G 0.992 1.981 T Thr ACA 0.280 A Ala GCA 0.226 447 12 8 Frog 0 0 0 0.71 0 8.VI 8.I 61 31 58 C0 199.67 VIII.98 Tolerated 0.7 II.94 good 3.799E-2 0.3319 255 PASS . . . . . . . . . . . ENSG00000182858:ENST00000330817:exon10:c.A1339G:p.T447A ALG12:uc003biy.3:exon10:c.A1339G:p.T447A ALG12:NM_024105:exon10:c.A1339G:p.T447A . . 0.50753766 . . @ 101 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.501 . @ . . . . . 1 0.673 . . 199.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T447A|ALG12|mRNA|CODING|NM_024105|NM_024105.ex.10) . . . . . . . 0.1987 0.148 0.199 c . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.806 . . exonic exonic exonic . . 0.497 @ . . . . . . ENSG00000182858 ALG12 ALG12 . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.460 . . . . D 0.903 0.283 . . 37 . 0.806 . . 0.791 . . . 0.819 0.393 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.674 . . 0 0 0 0 0 0 . 0.507 . . 0.476 . . . . . . 0 0.632 . . . . . 0.450 . 0.332 . HET 0.01 . . . . . . . . . . . . . X.08 . ENST00000330817 V.31 IV.26 . 0.200000 Q9BV10 . . . . . 0.373 . . IV.26 . . . . . . . . . 0 3.236e-05 0 0 0 0 6.685e-05 0 . . 0.730 . 0.838 0.838000 . . 0.200000 . . 1.0E-255 1.000 0.715 . 0.344 0.068 . 0.445 . 0.807 0.838 -0.013 . . . . . 1 1538 10 1/0 0,233,255 +rs144665682 22 50303575 G A - ALG12 19358 Asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) NM_024105.3 -1 2375 1467 NP_077010.1 Q9BV10 substitution missense exon GRCh37 50303575 50303575 Chr22(GRCh37):g.50303575G>A 631 631 NM_024105.3:c.631C>T p.Arg211Cys p.Arg211Cys 5 607144 -34 5' 95.872 9.66448 0.997331 4.93804 95.872 9.66448 0.997331 4.40276 0 GPI mannosyltransferase rs144665682 yes no Frequency/1000G 2 G benign 0.000000 0 0.016573 0.002300 0.035800 0.038700 0.003000 0.004300 0.008618 0.005534 0.001918 0.004927 0.027251 0.031681 0.004447 0.001706 0.006652 0.031681 2388 133 66 50 514 975 563 44 43 277102 24032 34416 10148 18862 30776 126614 25790 6464 0.000260 0.000083 0.000000 0.000197 0.001272 0.001430 0.000000 0.000000 0.000000 36 1 0 1 12 22 0 0 0 2316 131 66 48 490 931 563 44 43 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8562 4388 12950 38 18 56 0.0044186 0.00408534 0.00430571 0.0044186 0.00408534 0.00430571 72 RCV000224709.1|RCV000082163.4 germline|germline clinical testing|clinical testing Benign|Benign 1|1 not provided|not specified COSM4002211 Haematopoietic and lymphoid tissue 0.000283 3530 transition C T C>T 0.000 0.286 R Arg CGC 0.190 C Cys TGC 0.552 211 12 4 Dog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 262.60 0.00 Deleterious 0.05 II.94 good 4.72E-2 0.2681 255 PASS 0.0041 0.01 0.0028 0.04 0.0026 0.0023 0.017 0.0043 0.039 0.003 0.036 ENSG00000182858:ENST00000330817:exon5:c.C631T:p.R211C ALG12:uc003biy.3:exon5:c.C631T:p.R211C ALG12:NM_024105:exon5:c.C631T:p.R211C . . 0.5116279 . . germline 44 . . 1.2.2016 0 0 0 0 1 0 1 0 1 0 0 0 . . . . . . 0.181 . Benign//\%//\@Benign Benign|Benign RCV000082163.4|RCV000224709.1 not_specified|not_provided MedGen|MedGen CN169374|CN221809 1 0.208 . . 86.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R211C|ALG12|mRNA|CODING|NM_024105|NM_024105.ex.5) 0.0041 0.0043 0.0044 0.0041 0.0043 0.0044 . -0.9040 -0.985 -0.904 c . . . . . 9.417e-03 . . . 0.0038 0.0104 0.0020 0.0279 0.0011 0.0045 0.0113 0.0312 0.0041 0.0101 0.0020 0.0301 0.0014 0.0045 0.0145 0.0314 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.636 . . exonic exonic exonic . . 0.052 0.0166 . . . 0.29 0.14 182 ENSG00000182858 ALG12 ALG12 . . . 1.000 0.500 . 287 0.00441702 64976 204 0.00340079 59986 Likely_benign . 0 . 0.039 . . . . . . . . . 37 . 0.251 . . 0.347 . . . 0.197 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.592 . . 0 0 0 0 1 0 . 0.167 . . 0.184 . . . . . . 0 0.225 . . . . . 0.165 . 0.480 . HET 0.16 rs144665682 0.022 0.014 . CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000082163.1\x3bCLNDSDB\x3d.\x3bCLNDSDBID\x3d. CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000082163.3\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 CLINSIG\x3dnon-pathogenic\x3bCLNDBN\x3dnot_specified\x3bCLNREVSTAT\x3dcriteria_provided\x2c_single_submitter\x3bCLNACC\x3dRCV000082163.3\x3bCLNDSDB\x3dMedGen\x3bCLNDSDBID\x3dCN169374 . 0.012362637362637362 0.0040650406504065045 0.0027624309392265192 0.038461538461538464 0.002638522427440633 V.49 0.004548 ENST00000330817 IV.44 -2.93 . 0.170000 Q9BV10 . . . 0.004306 . 0.193 . . . 0.0050 0.0090 0.0019 0.0051 0.0271 0.0017 0.0046 0.0067 0.0317 0.0064 0.0055 0.0036 0 0.0284 0.0014 0.0037 0.0061 . . 0.730 . -0.130 -0.130000 . . 0.170000 . . 1.0E-255 0.704 0.284 . 0.016 0.001 . 0.418 . 0.075 -0.130 0.630 0.04 . . rs144665682 rs144665682 1 1538 10 1/0 0,255,255 +rs202135704 22 50523268 G A - MLC1 17082 Megalencephalic leukoencephalopathy with subcortical cysts 1 NM_139202.2 -1 3599 1134 NP_631941.1 Q15049 substitution missense exon GRCh37 50523268 50523268 Chr22(GRCh37):g.50523268G>A 64 64 NM_139202.2:c.64C>T p.Arg22Trp p.Arg22Trp 2 605908 -114 5' 83.6222 7.93332 0.984603 9.94121 83.6222 7.93332 0.984603 9.94121 0 rs202135704 yes no Frequency 1 G 0.000000 0 0.000094 0.000042 0.000116 0.000000 0.000000 0.000032 0.000150 0.000039 0.000000 0.000150 26 1 4 0 0 1 19 1 0 276330 23946 34404 10138 18838 30774 126326 25454 6450 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 26 1 4 0 0 1 19 1 0 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8598 4406 13004 2 0 2 0.000232558 0 0.000153775 0.000232558 0 0.000153775 41 RCV000513476.1 germline clinical testing VUS 1 not provided COSM3555580|COSM3555580 Skin|Large intestine 0.000812|0.000448 1232|2231 transition C T C>T 0.000 0.367 R Arg CGG 0.207 W Trp TGG 1.000 22 11 9 Tetraodon -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C35 26.00 95.78 Deleterious 0 III.67 bad 3.184E-4 0.0002241 255 PASS . . . . . . . . . . . . . . . . 0.43421054 . . @ 33 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.627 . @ . . . . . 1 0.867 . . 76.0 . . . . 0.0002 0.0002 . 0.0002 0.0002 . -0.2368 -0.486 -0.237 c . . . . . 1.026e-04 . . . 9.874e-05 0.0001 0 0 0 0.0002 0 0 0.0001 7.589e-05 0 0 0 0.0001 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.956 . . exonic exonic exonic . . 0.108 @ . . . 0.22 0.32 182 ENSG00000100427 MLC1 MLC1 . . . 1.000 0.454 . . . . . . . Uncertain_significance . 0 . 0.629 . . . . D 0.942 0.440 . . 37 . 0.958 . . 0.912 . . . 0.592 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.950 . . 0 0 0 0 0 0 . 0.899 . . 0.659 . . . . . . 0 0.912 . . . . . 0.484 . 0.630 . HET 0 rs202135704 . . . . . . . . . . . . XI.87 0.0 . V.54 -0.655 . 0.000000 . . . . 0.000154 . 0.174 . . . 6.573e-05 7.743e-05 8.938e-05 0 0 0 0.0001 0 3.249e-05 0 0.0002 0.0012 0 0 0.0003 0.0003 0 . . 0.391 . -0.105 -0.105000 . . 0.000000 . . 1.0E-255 0.206 0.242 . 0.151 0.336 . 0.226 . 0.197 -0.105 -0.424 0.0002 . . rs202135704 rs202135704 1 1538 10 1/0 0,255,255 +. 22 50528483 G GCGGCGGTGA - MOV10L1 7201 Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) NM_018995.2 1 3957 3636 NP_061868.1 Q9BXT6 duplication 5'UTR GRCh37 50528496 50528497 Chr22(GRCh37):g.50528488_50528496dup -30 -22 NM_018995.2:c.-30_-22dup p.? p.? 1 605794 -118 5' 72.5544 2.87535 0.040853 2.86085 72.5544 2.87535 0.040853 2.86085 0 New Donor Site 50528497 3.16015 0.010069 65.954 GGTGACGGC 255 Pass . . . . . . . . . . . . . . . . 0.6666667 . . . 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000073146 MOV10L1 MOV10L1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,11,18 +rs145908973 22 50636514 G A - TRABD 28805 TraB domain containing NM_001320484.1 1 2322 1143 NP_001307413.1 substitution synonymous exon GRCh37 50636514 50636514 Chr22(GRCh37):g.50636514G>A 867 867 NM_001320484.1:c.867G>A p.Arg289= p.Arg289Arg 9 11 3' 80.2727 XII.58 0.946624 13.9653 80.2727 XII.58 0.958608 14.0271 0.00421991 Cryptic Donor Strongly Activated 50636516 4.87902 0.411319 69.6616 5.93374 0.778728 72.4096 rs145908973 yes no Frequency/1000G 2 G 0.000000 0 0.000998 0.000000 0.000000 0.000000 0.002000 0.004300 0.000543 0.000211 0.000845 0.000000 0.000000 0.000000 0.000848 0.000000 0.001411 0.000848 149 5 29 0 0 0 106 0 9 274260 23724 34332 10074 18804 30724 124936 25288 6378 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 149 5 29 0 0 0 106 0 9 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8591 4394 12985 7 2 9 0.000814143 0.000454959 0.000692627 0.000814143 0.000454959 0.000692627 52 transition G A G>A 1.000 1.981 R Arg AGG 0.207 R Arg AGA 0.205 289 255 PASS . 0.0018 0.01 . 0.0026 . 0.001 0.0043 . 0.002 . . . TRABD:NM_025204:exon9:c.G855A:p.R285R . . 0.43678162 . . @ 76 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 174.0 . . . 0.0005 0.0007 0.0008 0.0005 0.0007 0.0008 . 2.1752 . . . . . . . . 3.643e-04 . . . 0.0003 0.0005 0.0004 0 0 0.0008 0.0015 0 0.0004 0.0003 0.0005 0 0 0.0005 0.0016 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0010 . . . 0.49 0.48 182 ENSG00000170638 TRABD TRABD . . . . . . 42 0.000646393 64976 37 0.000616811 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145908973 . . . . . . . . . . . . . . . . . . . . . . . 0.000693 . . . . 5.I 0.0003 0.0005 0.0008 0 0 0 0.0008 0.0015 0 0.0001 0.0006 0.0012 0 0 0 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs145908973 rs145908973 1 1538 10 1/0 0,234,255 +rs144718926 22 50695439 A T - MAPK12 6874 Mitogen-activated protein kinase 12 NM_002969.5 -1 1905 1104 NP_002960.2 P53778 substitution intron GRCh37 50695439 50695439 Chr22(GRCh37):g.50695439A>T 427-46 427-46 NM_002969.5:c.427-46T>A p.? p.? 5 4 602399 -46 3' 76.8165 6.27324 0.553872 XI.88 76.8165 6.27324 0.553872 11.1515 0 rs144718926 yes no Frequency/1000G 2 A 0.000000 0 0.001198 0.000000 0.000000 0.000000 0.001000 0.007200 0.000652 0.000169 0.000906 0.000000 0.000000 0.000000 0.001077 0.000000 0.001261 0.001077 177 4 31 0 0 0 134 0 8 271408 23620 34204 9988 18702 30648 124410 23490 6346 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 177 4 31 0 0 0 134 0 8 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8588 4389 12977 6 1 7 0.000698162 0.00022779 0.000539125 0.000698162 0.00022779 0.000539125 34 transversion T A T>A 0.000 -3.023 255 PASS . 0.0018 0.01 . 0.0013 . 0.0012 0.0072 . 0.001 . . . . . . 0.5121951 . . @ 63 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . . 0.0002 0.0005 0.0007 0.0002 0.0005 0.0007 . 0.0131 . . . . . . . . 5.163e-04 . . . 0.0002 0.0006 0.0007 0 0 0.0011 0.0016 0 0.0002 0.0004 0.0008 0 0 0.0007 0.0015 0 . . . . . . intronic intronic intronic . . . 0.0012 . . . 0.36 0.05 182 ENSG00000188130 MAPK12 MAPK12 . . . . . . 45 0.000692563 64976 40 0.000666822 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144718926 . . . . . . . . . . . . . . . . . . . . . . . 0.000539 . . . . . 0.0002 0.0006 0.0009 0 0 0 0.0011 0.0013 0 0.0001 0.0007 0.0024 0 0 0 0.0011 0.0010 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs144718926 rs144718926 1 1538 10 1/0 0,250,255 +. 22 50928127 T G - MIOX 14522 Myo-inositol oxygenase NM_017584.5 1 1437 858 NP_060054.4 Q9UGB7 substitution intron GRCh37 50928127 50928127 Chr22(GRCh37):g.50928127T>G 750-50 750-50 NM_017584.5:c.750-50T>G p.? p.? 10 9 606774 -50 3' 78.9683 8.84786 0.537634 9.41351 78.9683 8.84786 0.537634 9.65189 0 0.000253 0.000098 0.000647 0.000000 0.000341 0.000546 0.000096 0.000192 0.000710 0.000647 63 2 20 0 6 16 11 4 4 248540 20428 30914 9502 17582 29284 114356 20842 5632 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 63 2 20 0 6 16 11 4 4 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion T G T>G 0.000 -1.570 193 PASS . . . . . . . . . . . . . . . . 0.14285715 . . @ 8 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . -0.3358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000100253 MIOX MIOX . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 1 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0003 0.0006 0 0.0004 5.247e-05 0.0001 0.0008 0.0005 0.0003 0.0003 0.0018 0 0 0.0017 0 0 . . . . . . . . . . . 1.0E-193 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs181741673 22 51117713 C G - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution intron GRCh37 51117713 51117713 Chr22(GRCh37):g.51117713C>G 769-27 769-27 NM_001080420.1:c.769-27C>G p.? p.? 7 6 606230 -27 3' 88.0225 10.0007 0.972659 13.232 88.0225 10.0007 0.972659 XII.67 0 rs181741673 yes no Frequency/1000G 2 C 0.000000 0 0.001797 0.000800 0.000000 0.000000 0.005000 0.004300 0.004090 0.000356 0.004709 0.013090 0.000000 0.000411 0.005676 0.002746 0.005466 0.013090 959 7 148 96 0 10 609 59 30 234466 19638 31430 7334 17436 24360 107294 21486 5488 0.000026 0.000000 0.000064 0.000000 0.000000 0.000000 0.000037 0.000000 0.000000 3 0 1 0 0 0 2 0 0 953 7 146 96 0 10 605 59 30 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8367 4204 12571 35 4 39 0.00416567 0.00095057 0.00309278 0.00416567 0.00095057 0.00309278 24 transversion C G C>G 0.000 -0.279 255 PASS . 0.0027 0.01 . 0.01 0.0008 0.0018 0.0043 . 0.005 . . . . . . 0.46979865 . . @ 70 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 149.0 . . INTRON(MODIFIER||||SHANK3|mRNA|CODING|NM_033517|) 0.001 0.0031 0.0042 0.001 0.0031 0.0042 . 0.2186 . . . . . . . . 3.543e-03 . . . 0.0009 0.0041 0.0035 0 0.0022 0.0066 0.0162 0.0004 0.0007 0.0043 0.0036 0 0.0025 0.0065 0.0124 0.0004 . . . . . . intronic intronic intronic . . . 0.0018 . . . 0.19 0.19 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . 206 0.0031704 64976 197 0.0032841 59986 . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs181741673 . . . . . . . . . . . . . . . . . . . . . . . 0.003093 . . . . . 0.0004 0.0039 0.0046 0.0133 0 0.0025 0.0053 0.0053 0.0004 0.0003 0.0055 0.0081 0.0071 0 0.0042 0.0083 0.0064 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs181741673 rs181741673 1 1538 10 1/0 0,243,255 +rs201539119 22 51117826 A G - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution synonymous exon GRCh37 51117826 51117826 Chr22(GRCh37):g.51117826A>G 855 855 NM_001080420.1:c.855A>G p.Thr285= p.Thr285Thr 7 606230 -31 5' 79.5234 7.74728 0.92528 4.37608 79.5234 7.74728 0.92528 IV.32 0 rs201539119 yes no Frequency 1 A 0.000000 0 0.005525 0.030075 0.013158 0.000000 0.038462 0.000000 0.003736 0.055556 0.029412 0.055556 40 8 1 0 1 0 24 1 5 7240 266 76 260 26 0 6424 18 170 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 8 1 0 1 0 24 1 5 0 0 0 0 0 0 0 0 0 RF 265 Genomes transition A G A>G 0.858 -0.763 T Thr ACA 0.280 T Thr ACG 0.116 285 248 PASS . . . . . . . . . . . . SHANK3:uc031ryd.1:exon7:c.A855G:p.T285T SHANK3:NM_033517:exon7:c.A855G:p.T285T . . 0.3 . . @ 36 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 120.0 . . SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T285|SHANK3|mRNA|CODING|NM_033517|NM_033517.ex.7) . . . . . . . 0.7045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.15 0.2 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201539119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0301 0.0055 0.0132 0 0.0385 0.0556 0.0037 0.0294 . . . . . . . . . . . 1.0E-248 . . . . . . . . . . . . . . rs201539119 rs201539119 1 1538 10 1/0 0,236,255 +rs199499215 22 51117830 C T - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution synonymous exon GRCh37 51117830 51117830 Chr22(GRCh37):g.51117830C>T 859 859 NM_001080420.1:c.859C>T p.Leu287= p.Leu287Leu 7 606230 -27 5' 79.5234 7.74728 0.92528 4.37608 79.5234 7.74728 0.92528 4.23022 0 rs199499215 yes no Frequency 1 C 0.000000 0 0.000123 0.000388 0.000030 0.000000 0.000058 0.000000 0.000145 0.000046 0.000893 0.000388 31 6 1 0 1 0 17 1 5 251616 15482 33600 10032 17264 30744 117052 21840 5602 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 31 6 1 0 1 0 17 1 5 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 1.000 1.255 L Leu CTG 0.404 L Leu TTG 0.127 287 240 PASS . . . . . . . . . . . . SHANK3:uc031ryd.1:exon7:c.C859T:p.L287L SHANK3:NM_033517:exon7:c.C859T:p.L287L . . 0.27419356 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L287|SHANK3|mRNA|CODING|NM_033517|NM_033517.ex.7) . . . . . . . I.81 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.19 0.16 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199499215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.093e-06 0 0 0 0 0 0.0002 0 0.02 0.0041 0.0128 0 0.0263 0.0417 0.0026 0.0235 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs199499215 rs199499215 1 1538 10 1/0 0,233,255 +rs202089750 22 51117841 T C - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution synonymous exon GRCh37 51117841 51117841 Chr22(GRCh37):g.51117841T>C 870 870 NM_001080420.1:c.870T>C p.Cys290= p.Cys290Cys 7 606230 -16 5' 79.5234 7.74728 0.92528 4.37608 79.5234 7.74728 0.92528 4.98327 0 rs202089750 yes no Frequency 1 T 0.000000 0 0.001036 0.003846 0.009434 0.000000 0.000000 0.000000 0.000430 0.004464 0.004762 0.009434 9 3 1 0 0 0 3 1 1 8690 780 106 266 124 0 6980 224 210 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 9 3 1 0 0 0 3 1 1 0 0 0 0 0 0 0 0 0 RF 219 Genomes transition T C T>C 1.000 1.174 C Cys TGT 0.448 C Cys TGC 0.552 290 250 PASS . . . . . . . . . . . . SHANK3:uc031ryd.1:exon7:c.T870C:p.C290C SHANK3:NM_033517:exon7:c.T870C:p.C290C . . 0.30555555 . . @ 33 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 108.0 . . SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C290|SHANK3|mRNA|CODING|NM_033517|NM_033517.ex.7) . . . . . . . I.62 . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.18 0.2 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs202089750 . . . . . . ID\x3dCOSM330408\x3bOCCURENCE\x3d2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . 2.VII . . . . . . . . . 0.0038 0.0010 0.0094 0 0 0.0045 0.0004 0.0048 . . . . . . . . . . . 1.0E-250 . . . . . . . . . . . . . . rs202089750 rs202089750 1 1538 10 1/0 0,242,255 +rs145196448 22 51159798 G A - SHANK3 14294 SH3 and multiple ankyrin repeat domains 3 NM_001080420.1 1 7145 5244 NP_001073889.1 substitution synonymous exon GRCh37 51159798 51159798 Chr22(GRCh37):g.51159798G>A 3585 3585 NM_001080420.1:c.3585G>A p.Lys1195= p.Lys1195Lys 22 606230 -1068 5' 76.8168 9.10332 0.984839 8.88917 76.8168 9.10332 0.984839 8.88917 0 rs145196448 yes no Frequency/1000G 2 G 0.000000 0 0.002396 0.000000 0.001000 0.000000 0.008000 0.004300 0.006411 0.001805 0.004537 0.010293 0.000053 0.003382 0.010073 0.002022 0.006847 0.010293 1764 43 156 104 1 104 1260 52 44 275132 23828 34386 10104 18836 30748 125086 25718 6426 0.000044 0.000000 0.000000 0.000000 0.000000 0.000000 0.000080 0.000000 0.000311 6 0 0 0 0 0 5 0 1 1752 43 156 104 1 104 1250 52 42 0 0 0 0 0 0 0 0 0 PASS 0 Exomes+Genomes 8242 4087 12329 84 7 91 0.0100889 0.00170982 0.00732689 0.0100889 0.00170982 0.00732689 41 transition G A G>A 0.118 0.125 K Lys AAG 0.575 K Lys AAA 0.425 1195 255 PASS . 0.0027 0.01 . 0.01 . 0.0024 0.0043 . 0.008 0.001 . . SHANK3:NM_033517:exon21:c.G3495A:p.K1165K . . 0.4587156 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1165|SHANK3|mRNA|CODING|NM_033517|NM_033517.ex.21) 0.0017 0.0073 0.01 0.0017 0.0073 0.01 . 1.1370 . . . . . . . . 6.892e-03 . . . 0.0027 0.0069 0.0040 0 0.0023 0.0113 0.0062 0.0039 0.0026 0.0070 0.0040 0.0001 0.0024 0.0107 0.0047 0.0039 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0024 . . . 0.46 0.42 182 ENSG00000251322 SHANK3 SHANK3 . . . . . . 525 0.00807991 64976 514 0.00856867 59986 Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs145196448 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.007327 . . . . . 0.0019 0.0066 0.0044 0.0104 5.808e-05 0.0019 0.0103 0.0075 0.0034 0.0016 0.0052 0.0084 0.0066 0 0.0026 0.0084 0.0031 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs145196448 rs145196448 1 1538 10 1/0 0,253,255 +rs199871809 22 51220568 C T - RABL2B 9800 RAB, member of RAS oncogene family like 2B NM_001350008.1 -1 2398 720 NP_001336937.1 substitution intron GRCh37 51220568 51220568 Chr22(GRCh37):g.51220568C>T 107+48 107+48 NM_001350008.1:c.107+48G>A p.? p.? 3 3 605413 48 5' 77.6903 7.44314 0.74348 3.71304 77.6903 7.44314 0.74348 3.57243 0 rs199871809 yes no Frequency/1000G 2 C 0.000000 0 0.004963 0.001338 0.004391 0.013170 0.000580 0.008438 0.007276 0.002571 0.004038 0.013170 520 18 67 29 6 78 276 35 11 104776 13456 15260 2202 10346 9244 37932 13612 2724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 520 18 67 29 6 78 276 35 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -0.360 226 PASS 0.04 0.07 0.09 0.03 0.11 . . . . . . . . . . . 0.23121387 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 173.0 . . . . . . . . . . -0.2531 . . . . . . . . 5.033e-03 . . . 0.0079 0.0337 0.0302 0.0018 0.0545 0.0423 0.0303 0.0493 0.0090 0.0439 0.0342 0 0.0593 0.0808 0.1 0.0506 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.52 0.31 182 ENSG00000184319 RPL23AP82 RPL23AP82 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0057 0.0046 0.0140 0.0006 0.0023 0.0088 0.0051 0.0084 0.0016 0.0028 0 0.0049 0.0007 0.0037 0.0039 0.0013 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.11 . . rs199871809 rs199871809 1 1538 10 1/0 0,214,255 +rs199871809 22 51220568 C T - RPL23AP82 33730 Ribosomal protein L23a pseudogene 82 NR_026981.1 1 1520 0 substitution intron GRCh37 51220568 51220568 Chr22(GRCh37):g.51220568C>T 242-980 242-980 NR_026981.1:n.242-980C>T p.? p.? 2 1 -980 3' 87.9195 7.91713 0.978353 8.14229 87.9195 7.91713 0.978353 8.14229 0 rs199871809 yes no Frequency/1000G 2 C 0.000000 0 0.004963 0.001338 0.004391 0.013170 0.000580 0.008438 0.007276 0.002571 0.004038 0.013170 520 18 67 29 6 78 276 35 11 104776 13456 15260 2202 10346 9244 37932 13612 2724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 520 18 67 29 6 78 276 35 11 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transition C T C>T 0.000 -0.360 226 PASS 0.04 0.07 0.09 0.03 0.11 . . . . . . . . . . . 0.23121387 . . @ 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 173.0 . . . . . . . . . . -0.2531 . . . . . . . . 5.033e-03 . . . 0.0079 0.0337 0.0302 0.0018 0.0545 0.0423 0.0303 0.0493 0.0090 0.0439 0.0342 0 0.0593 0.0808 0.1 0.0506 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.52 0.31 182 ENSG00000184319 RPL23AP82 RPL23AP82 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0057 0.0046 0.0140 0.0006 0.0023 0.0088 0.0051 0.0084 0.0016 0.0028 0 0.0049 0.0007 0.0037 0.0039 0.0013 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.11 . . rs199871809 rs199871809 1 1538 10 1/0 0,214,255 +. X 307910 TGTAGACGCG T - PPP2R3B 13417 Protein phosphatase 2 regulatory subunit B''beta NM_013239.4 -1 2426 1728 NP_037371.2 Q9Y5P8 delins intron GRCh37 307910 307919 ChrX(GRCh37):g.307910_307919delinsT 717+50 717+59 NM_013239.4:c.717+50_717+59delinsA p.? p.? 4 4 300339 50 5' 90.3087 9.21919 0.859507 9.88304 90.3087 9.21919 0.859507 10.1654 0 A GCGTCTACAC 255 Pass . . . . . . . . . . . . . . . . 0.5660377 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 53 . . INTRON(MODIFIER||||PPP2R3B|mRNA|CODING|NM_013239|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000167393 PPP2R3B PPP2R3B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,12,25 +rs62581487 X 307920 G C - PPP2R3B 13417 Protein phosphatase 2 regulatory subunit B''beta NM_013239.4 -1 2426 1728 NP_037371.2 Q9Y5P8 substitution intron GRCh37 307920 307920 ChrX(GRCh37):g.307920G>C 717+49 717+49 NM_013239.4:c.717+49C>G p.? p.? 4 4 300339 49 5' 90.3087 9.21919 0.859507 9.88304 90.3087 9.21919 0.859507 9.85002 0 0.000599 0.000799 0.000173 0.000000 0.000000 0.000774 0.001016 0.001062 0.000000 0.001062 10 2 1 0 0 1 5 1 0 16684 2502 5784 414 598 1292 4922 942 230 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 1073 Exomes 1859 1635 3494 6345 2321 8666 0.226597 0.413296 0.287336 0.773403 0.586704 0.712664 59 transversion C G C>G 0.024 0.044 111 PASS 0.49 0.67 0.61 0.78 0.72 . . . . . . . . . . . 0.516129 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 62.0 . . INTRON(MODIFIER||||PPP2R3B|mRNA|CODING|NM_013239|) 0.59 0.71 0.77 0.59 0.71 0.77 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.26 0.12 182 ENSG00000167393 PPP2R3B PPP2R3B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.207 0.181 . . . . . . . . . . . . . . . . . . . . . 0.712664 . . . . . 0.0008 0.0006 0.0002 0 0 0.0011 0.0010 0 0.0008 . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.78 rs62581487 rs62581487 rs62581487 rs62581487 1 1538 10 1/0 115,1,0 +rs73618051 X 1420243 A G - CSF2RA 2435 Colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) NM_001161530.1 1 1787 1305 NP_001155002.1 substitution intron GRCh37 1420243 1420243 ChrX(GRCh37):g.1420243A>G 946+724 946+724 NM_001161530.1:c.946+724A>G p.? p.? 8 8 306250 724 5' 81.5823 8.72287 0.984052 7.95719 81.5823 8.72287 0.984052 7.95719 0 0.017772 0.056700 0.002000 0.004000 0.005000 0.004300 0.000320 0.000127 0.000000 0.000000 0.000000 0.000000 0.000496 0.000000 0.001139 0.000496 9 1 0 0 0 0 7 0 1 28134 7892 760 292 1610 0 14106 2596 878 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 32 Genomes transition A G A>G 0.130 0.044 111 PASS . . . . . 0.057 0.018 0.0043 0.004 0.005 0.002 . . . . . 1.0 . . @ 5 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 5.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0178 . . . 0.19 0.11 182 ENSG00000198223 . CSF2RA . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.033 0.022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0003 0 0 0 0 0.0005 0.0011 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.033 . rs73618051 rs73618051 rs73618051 1 1538 255 1.I 0,0,255 +rs146302062 X 3002412 C T - ARSF 721 Arylsulfatase F NM_001201538.1 1 2082 1773 NP_001188467.1 P54793 substitution missense exon GRCh37 3002412 3002412 ChrX(GRCh37):g.3002412C>T 535 535 NM_001201538.1:c.535C>T p.Arg179Cys p.Arg179Cys 6 300003 129 3' 82.6447 9.75943 0.95692 7.07587 82.6447 9.75943 0.95692 7.07587 0 Sulfatase Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase rs146302062 yes no Frequency/1000G 2 C 0.000000 0 0.001589 0.000000 0.007000 0.000000 0.001300 0.000000 0.002345 0.000386 0.000772 0.000000 0.000072 0.003709 0.003860 0.000786 0.001046 0.003860 470 7 21 0 1 71 350 15 5 200397 18136 27192 7482 13886 19143 90681 19095 4782 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000022 0.000000 0.000000 1 0 0 0 0 0 1 0 0 294 0 0 0 0 0 0 0 0 174 2 5 0 0 42 120 5 0 PASS 0 Exomes+Genomes 6697 3832 10529 31 3 34 0.00460761 0.000782269 0.00321878 0.00460761 0.000782269 0.00321878 115 COSM1183682|COSM1183682 Skin|Large intestine 0.000812|0.000448 1232|2231 transition C T C>T 0.000 0.125 R Arg CGT 0.082 C Cys TGT 0.448 179 12 4 Dog -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 353.86 0.00 Tolerated 0.1 III.49 unknown 0.0 0.0 255 PASS . . . . . . 0.0016 . . 0.001 0.0051 . . . . . 0.41618496 . . @ 72 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.501 . @ . . . . . 1 0.805 . . 173.0 . . . 0.0008 0.0032 0.0046 0.0008 0.0032 0.0046 . . . . . . . . . . 2.376e-03 . . . 0.0004 0.0023 0.0002 0 0.0004 0.0036 0 0.0038 0.0004 0.0023 0.0002 0 0.0007 0.0033 0 0.0038 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.937 . . exonic exonic exonic . . 0.215 0.0016 . . . 0.17 0.28 182 ENSG00000062096 ARSF ARSF . . . 0.000 0.041 . . . . . . . Uncertain_significance . 0 . 0.128 . . . . T 0.273 0.011 . . 37 . 0.824 . . 0.709 . . . 0.323 0.090 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.506 . . 0 0 0 0 0 0 . 0.277 . . 0.300 . . . . . . 0 0.246 . . . . . 0.003 . 0.415 . HET 0.06 rs146302062 . . . . . . . . . . . . 0.3434 6.22E-4 . III.44 I.43 . 0.190000 P54793 . . . 0.003219 . 0.039 . . . 0.0002 0.0024 0.0008 0 7.776e-05 0.0008 0.0039 0.0012 0.0037 0.0007 0.0019 0 0 0 0.0008 0.0034 0 . . . . 0.330 0.330000 . . 0.190000 . . 1.0E-255 0.016 0.191 . 0.150 0.187 . 0.221 . 0.308 0.330 0.662 0.0046 . . rs146302062 rs146302062 1 1538 10 1/0 0,231,255 +rs200193382 X 6451924 T C - VCX3A 18159 Variable charge, X-linked 3A NM_016379.3 -1 995 561 NP_057463.2 Q9NNX9 substitution synonymous exon GRCh37 6451924 6451924 ChrX(GRCh37):g.6451924T>C 423 423 NM_016379.3:c.423A>G p.Glu141= p.Glu141Glu 3 300533 321 3' 91.2377 X.15 0.87118 XI.23 91.2377 X.15 0.87118 XI.23 0 rs200193382 no no 0 T 0.000000 0 0.001237 0.001454 0.000089 0.000639 0.000311 0.000129 0.001416 0.003658 0.001379 0.003658 196 17 2 4 3 2 103 60 5 158431 11693 22540 6259 9631 15532 72748 16403 3625 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 194 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 0 RF 0 Exomes+Genomes transition A G A>G 0.417 1.255 E Glu GAA 0.417 E Glu GAG 0.583 141 224 PASS . . . . . . . . . . . . . VCX3A:NM_016379:exon3:c.A423G:p.E141E . . 0.2559524 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 168.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E141|VCX3A|mRNA|CODING|NM_016379|NM_016379.ex.3) . . . . . . . . . . . . . . . . . . . . 0.0201 0.0068 0.0028 0.0054 0.0042 0.0065 0.0095 0.0019 0.0215 0.0071 0.0028 0.0048 0.0066 0.0071 0.0070 0.0019 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.22 0.18 182 ENSG00000169059 VCX3A VCX3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200193382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0009 8.988e-05 0.0006 0.0001 0.0034 0.0010 0.0006 0.0001 0.0056 0.0071 0 0 0.0056 0.0066 0.0085 0.0098 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . rs200193382 rs200193382 1 1538 10 1/0 0,219,255 +rs200810334 X 6451992 C G - VCX3A 18159 Variable charge, X-linked 3A NM_016379.3 -1 995 561 NP_057463.2 Q9NNX9 substitution missense exon GRCh37 6451992 6451992 ChrX(GRCh37):g.6451992C>G 355 355 NM_016379.3:c.355G>C p.Glu119Gln p.Glu119Gln 3 300533 253 3' 91.2377 X.15 0.87118 XI.23 91.2377 X.15 0.87118 XI.23 0 Cryptic Donor Strongly Activated 6451990 0.020718 65.0219 1.62332 0.070216 68.0766 rs200810334 yes no Frequency 1 C 0.000000 0 0.000245 0.000095 0.000095 0.000000 0.000000 0.000092 0.000394 0.000469 0.000000 0.000469 31 1 2 0 0 1 21 6 0 126431 10571 20947 4851 9513 10906 53367 12795 3481 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 29 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 PASS 0 Exomes+Genomes 5626 2924 8550 10 19 29 0.00177431 0.006456 0.00338035 0.00177431 0.006456 0.00338035 5 transversion G C G>C 0.000 -0.279 E Glu GAG 0.583 Q Gln CAG 0.744 119 8 3 Western lowland gorilla 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 29.27 0.00 Tolerated 1 III.89 good 2.634E-1 0.0009655 217 PASS . . . . . . . . . . . . . VCX3A:NM_016379:exon3:c.G355C:p.E119Q . . 0.20512821 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.037 . @ . . . . . 1 0.003 . . 234.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E119Q|VCX3A|mRNA|CODING|NM_016379|NM_016379.ex.3) 0.0065 0.0034 0.0018 0.0065 0.0034 0.0018 . . . . . . . . . . 1.498e-04 . . . 0.0010 0.0004 0 0 0 0.0007 0 0 0.0012 0.0002 0 0 0 0.0003 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . . @ . . . 0.21 0.21 182 ENSG00000169059 VCX3A VCX3A . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.015 0.001 . . 37 . 0.022 . . 0.283 . . . 0.123 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.053 . . 0 0 0 0 0 0 . 0.462 . . 0.325 . . . . . . 0 0.072 . . . . . 0.109 . 0.083 . HET 0.09 rs200810334 . . . . . . . . . . . . IV.78 0.010008 . . . . 0.640000 Q9NNX9 . . . 0.003380 . 0.008 . . . 0 0.0002 4.899e-05 0 0 0.0006 0.0004 0 9.169e-05 0.0002 0.0002 0.0019 0 0 0 0.0002 0 . . . . -0.455 -0.455000 . . 0.640000 . . 1.0E-217 0.000 0.063 . 0.043 0.006 . 0.012 . 0.012 -0.455 0.542 0.0065 . . rs200810334 rs200810334 1 1538 10 1/0 0,199,255 +rs149104091 X 7243325 C T - STS 11425 Steroid sulfatase (microsomal), isozyme S NM_001320750.1 1 6603 1773 NP_001307679.1 substitution intron GRCh37 7243325 7243325 ChrX(GRCh37):g.7243325C>T 1118-55 1118-55 NM_001320750.1:c.1118-55C>T p.? p.? 9 8 300747 -55 3' 90.9429 10.707 0.986984 7.43716 90.9429 10.707 0.986984 7.44339 0 Cryptic Donor Strongly Activated 7243319 5.01016 0.573133 74.6683 7.97184 0.983633 80.4469 rs149104091 yes no Frequency/1000G 2 C 0.000000 0 0.004238 0.000000 0.000000 0.000000 0.017000 0.005700 0.008250 0.002209 0.001600 0.005319 0.000000 0.000000 0.011797 0.012035 0.009615 0.012035 179 13 1 1 0 0 125 32 7 21697 5884 625 188 1017 0 10596 2659 728 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 123 0 0 0 0 0 0 0 0 56 4 0 0 0 0 39 11 2 PASS 44 Genomes transition C T C>T 0.000 -0.198 255 PASS . 0.01 0.01 . 0.02 . 0.0042 0.0043 . 0.013 . . . . . . 0.47761193 . . @ 32 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 67.0 . . INTRON(MODIFIER||||STS|mRNA|CODING|NM_000351|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0042 . . . 0.31 0.36 182 ENSG00000101846 STS STS . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs149104091 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv2435e1 . . . . . . . . . . . . . . . 0.0022 0.0082 0.0016 0.0053 0 0.0120 0.0118 0.0096 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs149104091 rs149104091 1 1538 10 1/0 0,255,255 +rs200761534 X 7811859 A G - VCX 12667 Variable charge, X-linked NM_013452.2 1 967 621 NP_038480.2 Q9H320 substitution synonymous exon GRCh37 7811859 7811859 ChrX(GRCh37):g.7811859A>G 423 423 NM_013452.2:c.423A>G p.Glu141= p.Glu141Glu 3 300229 321 3' 91.2377 X.15 0.87118 XI.33 91.2377 X.15 0.87118 XI.33 0 rs200761534 no no 0 0.000000 0 0.001056 0.002303 0.001259 0.001104 0.000777 0.000680 0.000901 0.000928 0.002201 0.002303 127 20 20 4 8 8 49 12 6 120308 8684 15891 3622 10301 11763 54396 12925 2726 0.000033 0.000000 0.000000 0.000000 0.000000 0.000000 0.000037 0.000155 0.000000 2 0 0 0 0 0 1 1 0 116 0 0 0 0 0 0 0 0 7 1 1 0 1 2 1 0 1 RF 0 Exomes+Genomes transition A G A>G 0.992 0.367 E Glu GAA 0.417 E Glu GAG 0.583 141 194 PASS . . . . . . . . . . . . VCX:uc004crz.3:exon3:c.A423G:p.E141E VCX:NM_013452:exon3:c.A423G:p.E141E . . 0.14423077 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 104.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E141|VCX|mRNA|CODING|NM_013452|NM_013452.ex.3) . . . . . . . . . . . . . . . . . . . . 0.0022 0.0250 0.1716 0.0131 0.0101 0.0055 0.0086 0.0015 0.0018 0.0233 0.1732 0.0143 0.0136 0.0081 0.0091 0.0015 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.12 0.11 182 ENSG00000182583 VCX VCX . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs200761534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0006 0.0007 0.0011 0.0006 0.0003 0.0005 0.0004 0.0007 0.0055 0.0079 0.0459 0 0.0051 0.0063 0.0072 0.0213 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . rs708469 rs708469 rs708469 rs200761534 1 1538 10 1/0 0,228,255 +rs376404237 X 8434038 G C - VCX3B 31838 Variable charge, X-linked 3B NM_001001888.3 1 1175 741 NP_001001888.3 Q9H321 substitution missense exon GRCh37 8434038 8434038 ChrX(GRCh37):g.8434038G>C 355 355 NM_001001888.3:c.355G>C p.Glu119Gln p.Glu119Gln 3 300981 253 3' 91.2377 X.15 0.87118 XI.33 91.2377 X.15 0.87118 XI.33 0 Cryptic Donor Strongly Activated 8434040 0.020718 65.0219 1.62332 0.070216 68.0766 0.000063 0.000134 0.000080 0.000000 0.000149 0.000130 0.000045 0.000000 0.000000 0.000149 6 1 1 0 1 1 2 0 0 95364 7464 12442 3368 6702 7718 44840 10317 2513 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 0.044 E Glu GAG 0.583 Q Gln CAG 0.744 119 8 3 Western lowland gorilla 2 2 3 0.92 0.89 12.III 10.V 83 85 29 C0 29.27 0.00 Tolerated 0.73 IV.32 good 2.626E-1 0.000966 219 PASS . . . . . . . . . . . . . VCX3B:NM_001001888:exon3:c.G355C:p.E119Q . . 0.2364532 . . @ 48 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.004 . . 203.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E119Q|VCX3B|mRNA|CODING|NM_001001888|NM_001001888.ex.3) . . . . . . . . . . . . . . . . . . . . 0 0.0009 0 0 0 0 0.0132 0.0062 0 0.0006 0 0.0021 0 0 0.0125 0.0054 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.158 . . exonic exonic exonic . . 0.104 @ . . . . . . ENSG00000205642 VCX3B VCX3B . . . 0.000 0.029 . . . . . . . Likely_benign . 0 . . . . . . T 0.050 0.002 . . 37 . 0.047 . . 0.331 . . . 0.120 0.191 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.076 . . 0 0 0 0 0 0 . 0.314 . . 0.195 . . . . . . 0 0.089 . . . . . 0.181 . 0.044 . HET 0.02 . . . . . . . . . . . . . V.84 . . 0.669 -0.772 . 0.000000 . . . . . . 0.038 . . . 0 3.514e-05 0 0 0.0002 0 2.481e-05 0 0.0001 0.0003 0.0003 0.0036 0 0 0 0.0002 0 . . . . -0.263 -0.263000 . . 0.000000 . . 1.0E-219 0.000 0.063 . 0.062 0.012 . 0.061 . 0.010 -0.263 0.562 . . . . . 1 1538 10 1/0 0,209,255 +rs199867151 X 8434106 A G - VCX3B 31838 Variable charge, X-linked 3B NM_001001888.3 1 1175 741 NP_001001888.3 Q9H321 substitution synonymous exon GRCh37 8434106 8434106 ChrX(GRCh37):g.8434106A>G 423 423 NM_001001888.3:c.423A>G p.Glu141= p.Glu141Glu 3 300981 321 3' 91.2377 X.15 0.87118 XI.33 91.2377 X.15 0.87118 XI.33 0 rs199867151 yes no Frequency/1000G 2 A 0.000000 0 0.046093 0.073800 0.018100 0.090300 0.009100 0.021000 0.005693 0.003827 0.007212 0.000000 0.039864 0.009671 0.001810 0.000886 0.008696 0.039864 273 11 39 0 129 35 43 6 10 47953 2874 5408 1143 3236 3619 23751 6772 1150 0.000375 0.000000 0.000000 0.000000 0.004944 0.000000 0.000084 0.000000 0.000000 9 0 0 0 8 0 1 0 0 250 0 0 0 0 0 0 0 0 5 1 1 0 3 0 0 0 0 RF 0 Exomes+Genomes transition A G A>G 0.315 1.255 E Glu GAA 0.417 E Glu GAG 0.583 141 234 PASS . . . . . 0.056 0.046 0.016 0.069 0.007 0.013 . VCX3B:uc011mht.2:exon3:c.A423G:p.E141E VCX3B:NM_001001888:exon3:c.A423G:p.E141E . . 0.25688073 . . @ 28 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 109.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E141|VCX3B|mRNA|CODING|NM_001001888|NM_001001888.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0461 . . . 0.21 0.13 182 ENSG00000205642 VCX3B VCX3B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs199867151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0059 0.0073 0 0.0402 0.0007 0.0018 0.0096 0.0097 0.0048 0.0022 0 0 0 0.0030 0.0017 0 . . . . . . . . . . . 1.0E-234 . . . . . . . . . . . . . . rs708469 rs199867151 1 1538 10 1/0 0,238,255 +rs755967311 X 8434514 C G - VCX3B 31838 Variable charge, X-linked 3B NM_001001888.3 1 1175 741 NP_001001888.3 Q9H321 substitution 3'UTR GRCh37 8434514 8434514 ChrX(GRCh37):g.8434514C>G *90 *90 NM_001001888.3:c.*90C>G p.? p.? 3 300981 729 3' 91.2377 X.15 0.87118 XI.33 91.2377 X.15 0.87118 XI.33 0 rs755967311 yes no Frequency/1000G 2 C 0.013245 G 50 0.013245 0.004000 0.004200 0.000000 0.045700 0.015300 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4241 184 150 52 52 0 2725 899 179 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 51 Genomes transversion C G C>G 0.000 1.416 196 PASS . . . . . 0.003 0.013 0.011 . 0.035 0.0031 . . . . . 0.15 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 60.0 . . UTR_3_PRIME(MODIFIER||||VCX3B|mRNA|CODING|NM_001001888|NM_001001888.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . UTR3 ncRNA_exonic UTR3 . . . 0.0132 . . . . . . ENSG00000205642 VCX-8r VCX3B . . NM_001001888:c.*90C>G . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0 rs755967311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs373168017 X 10096128 C T - WWC3 29237 WWC family member 3 NM_015691.3 1 6454 3279 NP_056506.2 Q9ULE0 substitution missense exon GRCh37 10096128 10096128 ChrX(GRCh37):g.10096128C>T 2207 2207 NM_015691.3:c.2207C>T p.Thr736Met p.Thr736Met 16 -74 5' 67.601 6.66111 0.471539 X.19 67.601 6.66111 0.471539 9.83642 0 rs373168017 yes no Frequency 1 C 0.000000 0 0.000011 0.000082 0.000038 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000082 2 1 1 0 0 0 0 0 0 178527 12244 26544 7288 12863 19124 79968 16439 4057 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 83 Exomes 6728 3834 10562 0 1 1 0 0.000260756 9.46701e-05 0 0.000260756 9.46701e-05 76 transition C T C>T 0.000 0.770 T Thr ACG 0.116 M Met ATG 1.000 736 11 3 Opossum -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 255.37 0.00 Tolerated 0.23 III.77 good 3.177E-1 0.469 255 PASS . . . . . . . . . . . . . WWC3:NM_015691:exon16:c.C2207T:p.T736M . . 0.50476193 . . @ 53 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.227 . @ . . . . . 1 0.283 . . 105.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T736M|WWC3|mRNA|CODING|NM_015691|NM_015691.ex.16) 0.0003 0.0001 . 0.0003 0.0001 . . . . . . . . . . . 7.892e-06 . . . 0.0001 1.543e-05 0 0 0 0 0 0 0.0001 1.32e-05 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.052 . . exonic exonic exonic . . 0.270 @ . . . 0.24 0.29 182 ENSG00000047644 WWC3 WWC3 . . . 1.000 0.500 . . . . . . . Uncertain_significance . 0 . 0.036 . . . . T 0.387 0.017 . . 37 . 0.054 . . 0.335 . . . 0.520 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.344 . . 0 0 0 0 0 0 . 0.434 . . 0.350 . . . . . . 0 0.319 . . . . . 0.094 . 0.123 . HET 0.11 rs373168017 . . . . . . . . . . . . 4.0984 3.11E-4 . 5.II II.22 . . Q9ULE0 . . Name\x3ddgv2438e1 0.000095 . 0.106 . . II.22 8.167e-05 1.12e-05 3.767e-05 0 0 0 0 0 0 . . . . . . . . . . . . 0.359 0.359000 . . . . . 1.0E-255 0.000 0.063 . 0.062 0.001 . 0.166 . 0.320 0.359 0.827 0.0003 . . rs373168017 rs373168017 1 1538 10 1/0 0,255,255 +rs745455658 X 15711114 A G - CA5BP1 29544 Carbonic anhydrase VB pseudogene 1 NR_026551.1 1 994 0 substitution exon GRCh37 15711114 15711114 ChrX(GRCh37):g.15711114A>G 357 357 NR_026551.1:n.357A>G 4 29 3' 78.8928 8.93569 0.654197 VI.69 78.8928 8.93569 0.654197 6.89454 0 rs745455658 yes no Frequency 1 A 0.000000 0 0.000065 0.000055 0.000185 0.000000 0.000000 0.000157 0.000044 0.000000 0.000000 0.000185 13 1 5 0 0 3 4 0 0 199637 18097 27071 7464 13891 19069 90223 19059 4763 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 8 0 0 0 0 0 0 0 0 5 0 3 0 0 2 0 0 0 PASS 0 Exomes+Genomes COSM4998923|COSM4998923 Thyroid|Pancreas 0.002677|0.000569 747|1758 transition A G A>G 0.945 0.044 221 PASS . . . . . . . . . . . . CA5BP1:uc011mir.1:exon4:c.A77G:p.K26R . . . 0.2173913 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q119|CA5BP1|Non-coding_transcript|NON_CODING|NR_026551|NR_026551.ex.4) . . . . . . . . . . . . . . . . 7.104e-05 . . . 0 1.542e-05 0 0 0 3.348e-05 0 0 0 0 0 0 0 0 0 0 . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . . . . ENSG00000186312 CA5BP1 CA5BP1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET 0.02 rs745455658 . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv2439e1 . . . . . . 0 6.738e-05 0.0002 0 0 0 5.017e-05 0 0.0002 0.0002 4.641e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,240,255 +rs2257278 X 15782747 C A - CA5B 1378 Carbonic anhydrase VB, mitochondrial NM_007220.3 1 6032 954 NP_009151.1 Q9Y2D0 substitution synonymous exon GRCh37 15782747 15782747 ChrX(GRCh37):g.15782747C>A 189 189 NM_007220.3:c.189C>A p.Arg63= p.Arg63Arg 3 300230 47 3' 77.5189 VI.92 0.75277 5.92626 77.5189 VI.92 0.75277 6.15064 0 Alpha carbonic anhydrase rs2257278 yes no Frequency/1000G 2 A 0.000000 0 0.000265 0.000000 0.000000 0.000000 0.001300 0.000000 0.000270 0.000115 0.001139 0.000000 0.000690 0.000087 0.000103 0.000000 0.000000 0.001139 45 2 25 0 9 1 8 0 0 166834 17455 21957 4300 13041 11458 77664 17084 3875 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 32 0 0 0 0 0 0 0 0 13 0 4 0 1 0 8 0 0 PASS 0 Exomes+Genomes transversion C A C>A 0.323 -2.216 R Arg CGC 0.190 R Arg CGA 0.110 63 200 PASS 0.01 0.01 . 0.01 0.02 . 0.0003 . . 0.001 . . CA5B:uc004cxe.3:exon3:c.C189A:p.R63R CA5B:NM_007220:exon3:c.C189A:p.R63R . . 0.16091955 . . @ 14 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 87.0 . . SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R63|CA5B|mRNA|CODING|NM_007220|NM_007220.ex.3) . . . . . . . . . . . . . . . . 2.776e-04 . . . 0.0001 0.0004 0.0009 0.0009 0 0.0002 0 0.0002 0.0002 0.0002 0.0006 0.0005 0 0.0002 0 0.0002 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0003 . . . 0.27 0.32 182 ENSG00000169239 CA5B CA5B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs2257278 . . . . . . . . . . . . . . . . . . . . . . Name\x3desv2739978 . . . . . . 0.0002 0.0003 0.0011 0 0.0007 0 8.899e-05 0 8.728e-05 0 0.0001 0.0016 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . 0.02 rs2257278 rs2257278 rs2257278 rs2257278 1 1538 10 1/0 0,237,255 +rs185734414 X 17092389 G T - REPS2 9963 RALBP1 associated Eps domain containing 2 NM_004726.2 1 7953 1983 NP_004717.2 Q8NFH8 substitution intron GRCh37 17092389 17092389 ChrX(GRCh37):g.17092389G>T 1379+107 1379+107 NM_004726.2:c.1379+107G>T p.? p.? 12 12 300317 107 5' 72.5078 6.12739 0.801047 0.641868 72.5078 6.12739 0.801047 0.641868 0 rs185734414 yes no Frequency/1000G 2 G 0.000000 0 0.002119 0.000000 0.000000 0.000000 0.002600 0.011500 0.001385 0.000339 0.001613 0.000000 0.000000 0.000000 0.002464 0.000378 0.000000 0.002464 30 2 1 0 0 0 26 1 0 21660 5894 620 188 1034 0 10551 2649 724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 17 0 0 0 0 0 0 0 0 13 1 0 0 0 0 12 0 0 PASS 44 Genomes transversion G T G>T 0.000 -0.521 255 PASS . 0.0036 0.02 . 0.0017 . 0.0021 0.0086 . 0.002 . . . . . . 0.5555556 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 54.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0021 . . . 0.36 0.26 182 ENSG00000169891 REPS2 REPS2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs185734414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0014 0.0016 0 0 0.0004 0.0025 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.02 . . rs185734414 rs185734414 1 1538 10 1/0 0,255,255 +rs5927629 (chrX:30872602 A/G) X 30872602 A G Transcript NM_152787.4: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) TAB3 +rs74495781 X 36091379 A C - CFAP47 26708 Cilia and flagella associated protein 47 NM_001304548.1 1 9943 9564 NP_001291477.1 substitution missense exon GRCh37 36091379 36091379 ChrX(GRCh37):g.36091379A>C 4589 4589 NM_001304548.1:c.4589A>C p.His1530Pro p.His1530Pro 29 -103 5' 90.0021 8.68007 0.858815 2.56068 90.0021 8.68007 0.858815 2.56068 0 rs74495781 yes no Frequency/1000G 2 A 0.000000 0 0.004238 0.001000 0.000000 0.000000 0.013100 0.009500 0.009649 0.002219 0.006444 0.022074 0.000000 0.001411 0.013326 0.013083 0.014286 0.022074 1928 40 175 165 0 27 1204 249 68 199811 18025 27156 7475 13877 19138 90348 19032 4760 0.000070 0.000000 0.000000 0.000268 0.000000 0.000000 0.000089 0.000210 0.000000 7 0 0 1 0 0 4 2 0 1208 0 0 0 0 0 0 0 0 706 6 44 61 0 20 469 80 26 PASS 0 Exomes+Genomes 6646 3823 10469 82 10 92 0.0121879 0.00260892 0.0087113 0.0121879 0.00260892 0.0087113 109 transversion A C A>C 0.000 -0.198 H His CAC 0.587 P Pro CCC 0.328 1530 12 1 -2 -2 -4 0.58 0.39 10.IV 8 96 32.5 77 C0 353.86 0.00 Not scored 0.0 0.0 255 PASS . 0.01 0.02 . 0.01 0.0008 0.0042 0.0072 . 0.0099 . . CHDC2:uc004ddk.1:exon4:c.A314C:p.H105P CFAP47:NM_001304548:exon29:c.A4589C:p.H1530P . . 0.44 . . @ 44 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.092 . @ . . . . . 1 0.124 . . 100.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cCc|H1530P|CFAP47|mRNA|CODING|NM_001304548|NM_001304548.ex.29) 0.0026 0.0087 0.012 0.0026 0.0087 0.012 . . . . . . . . . . 0.010 . . . 0.0020 0.0075 0.0046 0 0.0136 0.0128 0.0123 0.0007 0.0016 0.0096 0.0047 0 0.0150 0.0155 0.0107 0.0007 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.095 0.0042 . . . 0.24 0.22 182 ENSG00000176034 CHDC2 CFAP47 . . . 0.000 0.038 . . . . . . . Likely_benign . 0 . 0.051 . . . . . . . . . 37 . 0.068 . . 0.147 . . . 0.065 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.825 . . 0 0 0 0 0 0 . 0.473 . . 0.312 . . . . . . 0 0.363 . . . . . 0.097 . 0.372 . HET 0.12 rs74495781 . . . . . . . 0.007233273056057866 0.0 0.0056179775280898875 0.0 0.006631299734748011 4.1604 0.003423 . IV.96 -1.03 . 0.150000 Q8N9S7 . . . 0.008711 . 0.122 . . . 0.0021 0.0098 0.0063 0.0217 0 0.0131 0.0136 0.0148 0.0014 0.0024 0.0087 0.0134 0.0374 0 0.0128 0.0110 0.0113 . . . . -0.643 -0.643000 . . 0.150000 . . 1.0E-255 0.000 0.063 . 0.083 0.707 . 0.239 . 0.624 -0.643 0.804 0.02 . . rs74495781 rs74495781 1 1538 10 1/0 0,254,255 +rs185811149 X 37061507 C T - FTH1P18 3988 Ferritin, heavy polypeptide 1 pseudogene 18 NM_001271682.1 -1 913 666 NP_001258611.1 substitution synonymous exon GRCh37 37061507 37061507 ChrX(GRCh37):g.37061507C>T 255 255 NM_001271682.1:c.255G>A p.Ala85= p.Ala85Ala 1 rs185811149 yes no Frequency/1000G 2 C 0.000000 0 0.000530 0.001000 0.000000 0.000000 0.000000 0.001900 0.000185 0.000000 0.000000 0.000000 0.000000 0.000000 0.000287 0.000000 0.001397 0.000287 4 0 0 0 0 0 3 0 1 21603 5932 619 183 1047 0 10456 2650 716 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 PASS 44 Genomes transition G A G>A 1.000 1.497 A Ala GCG 0.107 A Ala GCA 0.226 85 255 PASS . 0. . . . 0.0008 0.0005 0.0014 . . . . FTH1P18:uc031tjg.1:exon1:c.G255A:p.A85A FTH1P18:NM_001271682:exon1:c.G255A:p.A85A . . 0.52020204 . . @ 103 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 198.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A85|FTH1P18|mRNA|CODING|NM_001271682|NM_001271682.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . 0.0005 . . . 0.29 0.01 182 ENSG00000243048 FTH1P18 FTH1P18 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0002 0 0 0 0 0.0003 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0. . . rs185811149 rs185811149 1 1538 10 1/0 0,230,244 +. X 44202890 G GC - EFHC2 26233 EF-hand domain (C-terminal) containing 2 NM_025184.3 -1 3252 2250 NP_079460.2 Q5JST6 duplication 5'UTR GRCh37 44202890 44202891 ChrX(GRCh37):g.44202891dup -57 -57 NM_025184.3:c.-57dup p.? p.? 1 300817 -98 5' 82.0199 9.53779 0.974478 XI.38 82.0199 9.53779 0.974478 XI.38 0 rs5902346 yes no Frequency/1000G 2 0.000000 0 0.999735 1.000000 0.998600 1.000000 1.000000 1.000000 0.999962 0.999917 0.999950 1.000000 0.999776 0.999930 1.000000 1.000000 1.000000 1.000000 131715 12015 19821 6207 8933 14335 52284 14513 3607 131720 12016 19822 6207 8935 14336 52284 14513 3607 0.658214 0.714547 0.736051 0.643789 0.652266 0.402344 0.675350 0.699511 0.684780 43350 4293 7295 1998 2914 2884 17655 5076 1235 4 0 0 0 0 0 0 0 0 45010 3428 5230 2211 3103 8566 16974 4361 1137 PASS 0 Exomes+Genomes 37 17 54 5831 2929 8760 0.00630539 0.00577054 0.00612662 0.993695 0.994229 0.993873 16 G 255 Pass 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 0.96666664 . . . 58 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 60 . . UTR_5_PRIME(MODIFIER||||EFHC2|mRNA|CODING|NM_025184|NM_025184.ex.1) 1. 1. 1. 0.99 0.99 0.99 . . . . . . . . . . 1.000 . . . 0.9995 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 . . . . . . UTR5 UTR5 UTR5 . . . . . . . . . . ENSG00000183690 EFHC2 EFHC2 ENST00000420999:c.-57_-56insG uc004dgb.4:c.-57_-56insG NM_025184:c.-57_-56insG . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs397970935 0.043 0.072 . . . . . . . . . . . . . . . . . . . . . 0.999430 . . . . . 0.9998 1.0000 0.9999 1 0.9999 1 1 1 0.9999 1 1.0000 1 1 0.9990 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs5902346 rs5902346 rs5902346 1 1538 255 1.I 0,0,255 +. X 47039112 A G - RBM10 9896 RNA binding motif protein 10 NM_001204468.1 1 3433 2988 NP_001191397.1 substitution intron GRCh37 47039112 47039112 ChrX(GRCh37):g.47039112A>G 1097-167 1097-167 NM_001204468.1:c.1097-167A>G p.? p.? 10 9 300080 -167 3' 75.6842 7.95563 0.429543 VII.83 75.6842 7.95563 0.429543 VII.83 0 rs981741025 no no 0 A 0.000000 0 0.000096 0.000000 0.000000 0.000000 0.000000 0.000000 0.000199 0.000000 0.000000 0.000199 2 0 0 0 0 0 2 0 0 20873 5687 616 178 988 0 10064 2640 700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 PASS 43 Genomes transition A G A>G 0.000 0.205 255 PASS . . . . . . . . . . . . . . . . 0.4861111 . . @ 35 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 72.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000182872 RBM10 RBM10 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 9.582e-05 0 0 0 0 0.0002 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs73201999 X 47103049 C T - USP11 12609 Ubiquitin specific peptidase 11 NM_004651.3 1 3290 2892 NP_004642.2 P51784 substitution intron GRCh37 47103049 47103049 ChrX(GRCh37):g.47103049C>T 1919+48 1919+48 NM_004651.3:c.1919+48C>T p.? p.? 13 13 300050 48 5' 78.1779 9.63223 0.977235 X.47 78.1779 9.63223 0.977235 X.36 0 Cryptic Acceptor Strongly Activated 47103065 3.85225 0.001691 67.4565 4.36046 0.00231 67.4565 rs73201999 yes no Frequency/1000G 2 C 0.000000 0 0.001589 0.002000 0.000000 0.000000 0.003900 0.001900 0.005315 0.004594 0.001411 0.003667 0.000000 0.000653 0.009852 0.001338 0.003922 0.009852 880 74 34 23 0 10 701 22 16 165574 16109 24095 6272 12110 15315 71154 16439 4080 0.000024 0.000000 0.000000 0.000000 0.000000 0.000000 0.000056 0.000000 0.000000 2 0 0 0 0 0 2 0 0 635 0 0 0 0 0 0 0 0 241 15 8 7 0 7 195 6 3 PASS 0 Exomes+Genomes 6650 3807 10457 60 15 75 0.00894188 0.00392465 0.00712115 0.00894188 0.00392465 0.00712115 15 transition C T C>T 0.000 0.528 255 PASS 0.01 0.0024 . . 0.0034 0.0015 0.0016 0.0014 . 0.003 . . . . . . 0.5411765 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 85.0 . . INTRON(MODIFIER||||USP11|mRNA|CODING|NM_004651|) 0.0039 0.0071 0.0089 0.0039 0.0071 0.0089 . . . . . . . . . . 5.612e-03 . . . 0.0040 0.0049 0.0011 0 0.0025 0.0091 0 0.0003 0.0037 0.0058 0.0010 0 0.0016 0.0105 0 0.0003 . . . . . . intronic intronic intronic . . . 0.0016 . . . 0.41 0.1 182 ENSG00000102226 USP11 USP11 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs73201999 0.011 0.014 . . . . . . . . . . . . . . . . . . . . . 0.007121 . . . . II.46 0.0043 0.0053 0.0014 0.0038 0 0.0015 0.0101 0.0036 0.0007 0.0051 0.0056 0 0 0 0.0008 0.0082 0.0056 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . rs73201999 rs73201999 rs73201999 1 1538 10 1/0 0,255,255 +. X 48319348 A C - SLC38A5 18070 Solute carrier family 38, member 5 NM_033518.3 -1 1996 1419 NP_277053.2 Q8WUX1 substitution intron GRCh37 48319348 48319348 ChrX(GRCh37):g.48319348A>C 952+24 952+24 NM_033518.3:c.952+24T>G p.? p.? 13 13 300649 24 5' 74.2807 8.34018 0.887644 9.74367 74.2807 8.34018 0.887644 10.0184 0 0.000037 0.000000 0.000117 0.000000 0.000000 0.000000 0.000033 0.000080 0.000000 0.000117 5 0 2 0 0 0 2 1 0 135040 12719 17153 5272 9919 13665 60597 12461 3254 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transversion T G T>G 0.000 0.125 179 PASS . . . . . . . . . . . . . . . . 0.11320755 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 53.0 . . INTRON(MODIFIER||||SLC38A5|mRNA|CODING|NM_033518|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000017483 SLC38A5 SLC38A5 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.19e-05 0.0001 0 0 9.104e-05 3.803e-05 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-179 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,254,255 +rs201793746 X 48925533 G A - CCDC120 28910 Coiled-coil domain containing 120 NM_001163321.2 1 3620 2091 NP_001156793.2 substitution missense exon GRCh37 48925533 48925533 ChrX(GRCh37):g.48925533G>A 1883 1883 NM_001163321.2:c.1883G>A p.Arg628His p.Arg628His 10 300947 -94 5' 84.8076 9.98517 0.906579 8.47165 84.8076 9.98517 0.906579 8.47165 0 rs201793746 yes no Frequency/1000G 2 G 0.000000 0 0.000265 0.000000 0.000000 0.000000 0.001300 0.000000 0.002368 0.000439 0.000105 0.000682 0.000000 0.000147 0.005091 0.002236 0.002649 0.005091 289 5 2 4 0 2 236 31 9 122034 11402 19094 5865 8443 13610 46357 13866 3397 0.000016 0.000000 0.000000 0.000000 0.000000 0.000000 0.000043 0.000000 0.000000 1 0 0 0 0 0 1 0 0 201 0 0 0 0 0 0 0 0 86 2 1 2 0 2 68 10 1 PASS 0 Exomes+Genomes transition G A G>A 1.000 1.013 R Arg CGC 0.190 H His CAC 0.587 628 12 8 Dog 0 0 0 0.65 0.58 10.V 10.IV 124 96 29 C0 353.86 0.00 Tolerated 0.09 III.76 255 PASS . . . . . . 0.0003 . . 0.001 . . . . . . 0.509434 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 1 0 0 0 . . . . . . 0.370 . @ . . . . . 1 0.990 . . 53.0 . . . . . . . . . . . . . . . . . . . 1.451e-03 . . . 0.0011 0.0031 0 0 0 0.0061 0.0132 0 0.0015 0.0012 0 0 0 0.0030 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.407 0.0003 . . . 0.4 0.44 182 ENSG00000147144 CCDC120 CCDC120 . . . 0.993 0.331 . . . . . . . Uncertain_significance . 0 . 0.370 . . . . . . . . . 37 . 0.543 . . 0.649 . . . 0.380 0.339 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.085 . . 0 0 0 0 0 0 . 0.764 . . 0.759 . . . . . . 1 0.682 . . . . . 0.401 . 0.567 . HET 0.01 . . . . . . . . . . . . . IX.36 3.84E-4 . IV.53 III.64 . 0.030000 . . . . . . 0.250 . . III.64 0.0007 0.0019 0.0001 0.0007 0 0.0023 0.0041 0.0022 0.0001 0.0002 0.0045 0 0 0 0.0019 0.0084 0.0042 . . . . 1.987 1.987000 . . 0.030000 . . 1.0E-255 1.000 0.715 . 0.888 0.991 . 0.438 . 0.412 1.987 0.069 . . . rs201793746 rs201793746 1 1538 10 1/0 0,255,255 +rs141228104 X 49214248 T C - GAGE2D 31959 G antigen 2D NM_001098407.1 1 561 351 NP_001091877.1 Q9UEU5 substitution intron GRCh37 49214248 49214248 ChrX(GRCh37):g.49214248T>C 329-56 329-56 NM_001098407.1:c.329-56T>C p.? p.? 5 4 300735 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49214250 -24.7594 rs141228104 no no 0 T 0.000000 0 0.009709 0.000000 0.000000 0.000000 0.000000 0.000000 0.006579 0.047619 0.000000 0.047619 2 0 0 0 0 0 1 1 0 206 15 0 0 13 0 152 21 5 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 326 Genomes transition T C T>C 0.028 0.367 240 PASS . . . . . . . . . . . . . . . . 0.27586207 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 87.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.46 0.29 182 ENSG00000240257 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs141228104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0097 . . 0 0.0476 0.0066 0 . . . . . . . . . . . 1.0E-240 . . . . . . . . . . . . . . rs141228104 rs141228104 1 1538 10 1/0 0,248,255 +. X 49223771 T C - GAGE12I 4105 G antigen 12I NM_001477.1 1 502 354 NP_001468.1 O76087 substitution intron GRCh37 49223771 49223771 ChrX(GRCh37):g.49223771T>C 332-56 332-56 NM_001477.1:c.332-56T>C p.? p.? 5 4 300637 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49223773 -24.7594 transition T C T>C 0.020 0.448 233 PASS . . . . . . . . . . . . . . . . 0.25274727 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000241465 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. X 49223771 T C - GAGE4 4101 G antigen 4 NM_001474.1 1 527 354 NP_001465.1 A6NER3 substitution intron GRCh37 49223771 49223771 ChrX(GRCh37):g.49223771T>C 332-56 332-56 NM_001474.1:c.332-56T>C p.? p.? 5 4 300597 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49223773 -24.7594 transition T C T>C 0.020 0.448 233 PASS . . . . . . . . . . . . . . . . 0.25274727 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000241465 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. X 49223771 T C - GAGE5 4102 G antigen 5 NM_001475.1 1 522 354 NP_001466.1 Q13069 substitution intron GRCh37 49223771 49223771 ChrX(GRCh37):g.49223771T>C 332-56 332-56 NM_001475.1:c.332-56T>C p.? p.? 5 4 300598 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49223773 -24.7594 transition T C T>C 0.020 0.448 233 PASS . . . . . . . . . . . . . . . . 0.25274727 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000241465 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +. X 49223771 T C - GAGE7 4104 G antigen 7 NM_021123.3 1 524 354 NP_066946.1 O76087 substitution intron GRCh37 49223771 49223771 ChrX(GRCh37):g.49223771T>C 332-56 332-56 NM_021123.3:c.332-56T>C p.? p.? 5 4 300601 -56 3' 96.697 XII.78 0.990706 7.54309 96.697 XII.78 0.990706 7.42844 0 49223773 -24.7594 transition T C T>C 0.020 0.448 233 PASS . . . . . . . . . . . . . . . . 0.25274727 . . @ 23 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000241465 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,243,255 +rs146233104 X 49233309 T C - GAGE2C 31958 G antigen 2C NM_001472.2 1 538 351 NP_001463.1 Q13066 substitution intron GRCh37 49233309 49233309 ChrX(GRCh37):g.49233309T>C 329-56 329-56 NM_001472.2:c.329-56T>C p.? p.? 5 4 300595 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49233311 -24.7594 rs146233104 no no 0 T 0.000000 0 transition T C T>C 0.008 -1.732 237 PASS . . . . . . . . . . . . . . . . 0.26666668 . . @ 24 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 90.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.55 0.33 182 ENSG00000236249 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs146233104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-237 . . . . . . . . . . . . . . rs146233104 rs146233104 1 1538 10 1/0 0,245,255 +. X 49242844 T C - GAGE2B 31957 G antigen 2B NM_001098411.3 1 509 351 NP_001091881.1 Q13066 substitution intron GRCh37 49242844 49242844 ChrX(GRCh37):g.49242844T>C 329-56 329-56 NM_001098411.3:c.329-56T>C p.? p.? 5 4 300726 -56 3' 96.697 XII.78 0.990706 8.18191 96.697 XII.78 0.990706 8.06727 0 49242846 -24.7594 transition T C T>C 0.004 0.528 255 PASS . . . . . . . . . . . . . . . . 0.4090909 . . @ 27 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000231850 . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +rs17355429 X 52734233 C T - SSX2 11336 Synovial sarcoma, X breakpoint 2 NM_003147.5 -1 1476 672 NP_003138.3 substitution synonymous exon GRCh37 52734233 52734233 ChrX(GRCh37):g.52734233C>T 129 129 NM_003147.5:c.129G>A p.Ser43= p.Ser43Ser 3 300192 -56 5' 77.8471 6.24963 0.816611 0 77.8471 6.24963 0.816611 0 0 Krueppel-associated box Krueppel-associated box-related rs17355429 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.000 -1.651 S Ser TCG 0.056 S Ser TCA 0.148 43 255 PASS . . . . . . . . . . . . . . . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.29 182 ENSG00000241476 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs17355429 rs17355429 rs17355429 rs17355429 1 1538 10 1/0 0,255,255 +rs17355429 X 52734233 C T - SSX2B 22263 Synovial sarcoma, X breakpoint 2B NM_001278701.1 -1 1475 672 NP_001265630.1 substitution synonymous exon GRCh37 52734233 52734233 ChrX(GRCh37):g.52734233C>T 129 129 NM_001278701.1:c.129G>A p.Ser43= p.Ser43Ser 3 -56 5' 77.8471 6.24963 0.816611 0 77.8471 6.24963 0.816611 0 0 rs17355429 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition G A G>A 0.000 -1.651 S Ser TCG 0.056 S Ser TCA 0.148 43 255 PASS . . . . . . . . . . . . . . . . 0.43137255 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 51.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.45 0.29 182 ENSG00000241476 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . rs17355429 rs17355429 rs17355429 rs17355429 1 1538 10 1/0 0,255,255 +. (chrX:52782324 G/A) X 52782324 G A Not on a known gene +. (chrX:52936719 C/T) X 52936719 C T Not on a known gene +rs201230195 X 52977330 G A - FAM156A 30114 Family with sequence similarity 156, member A NM_001242489.1 -1 2102 642 NP_001229418.1 Q8NDB6 substitution missense exon GRCh37 52977330 52977330 ChrX(GRCh37):g.52977330G>A 467 467 NM_001242489.1:c.467C>T p.Thr156Met p.Thr156Met 3 584 3' 79.7622 7.06726 0.499243 4.25896 79.7622 7.06726 0.499243 4.25896 0 Cryptic Acceptor Strongly Activated 52977331 0.000404 70.0796 0.41391 0.00158 70.0796 rs201230195 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.008 1.577 T Thr ACG 0.116 M Met ATG 1.000 156 11 10 Cat -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 81.04 0.00 Tolerated 0.2 III.76 231 PASS 0.01 0.01 0.0036 0.01 0.02 . . . . . . . . . . . 0.24561404 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.263 . @ . . . . . 1 0.582 . . 228.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.313 @ . . . 0.51 0.45 182 ENSG00000182646 FAM156A . . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.836 0.155 . . 37 . 0.125 . . 0.117 . . . 0.271 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.306 . 0.431 . HET 0.4 rs201230195 . . . . . . . 0.012055455093429777 0.008130081300813009 0.0027624309392265192 0.005244755244755245 0.01856763925729443 VIII.73 . . II.75 II.75 . 0.460000 . . . . . . 0.042 . . II.75 . . . . . . . . . . . . . . . . . . . . . 1.658 1.658000 . . 0.460000 . . 1.0E-231 0.005 0.169 . 0.529 0.926 . 0.172 . 0.302 1.658 0.345 0.02 . . rs201230195 rs201230195 1 1538 10 1/0 0,204,255 +rs201230195 X 52977330 G A - FAM156B 31962 Family with sequence similarity 156, member B NM_001099684.1 -1 1701 642 NP_001093154.1 Q8NDB6 substitution missense exon GRCh37 52977330 52977330 ChrX(GRCh37):g.52977330G>A 467 467 NM_001099684.1:c.467C>T p.Thr156Met p.Thr156Met 3 584 3' 79.7622 7.06726 0.499243 4.25896 79.7622 7.06726 0.499243 4.25896 0 Cryptic Acceptor Strongly Activated 52977331 0.000404 70.0796 0.41391 0.00158 70.0796 rs201230195 yes no Frequency/1000G 2 G 0.000000 0 transition C T C>T 0.008 1.577 T Thr ACG 0.116 M Met ATG 1.000 156 11 10 Cat -1 -1 -1 0.71 0 8.VI 5.VII 61 105 81 C0 81.04 0.00 Tolerated 0.19 III.69 good 5.154E-2 0.001671 231 PASS 0.01 0.01 0.0036 0.01 0.02 . . . . . . . . . . . 0.24561404 . . @ 56 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.263 . @ . . . . . 1 0.582 . . 228.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.478 . . exonic exonic exonic . . 0.313 @ . . . 0.51 0.45 182 ENSG00000182646 FAM156A . . . . 0.000 0.035 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.836 0.155 . . 37 . 0.125 . . 0.117 . . . 0.271 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . 0.306 . 0.431 . HET 0.4 rs201230195 . . . . . . . 0.012055455093429777 0.008130081300813009 0.0027624309392265192 0.005244755244755245 0.01856763925729443 VIII.73 . . II.75 II.75 . 0.460000 . . . . . . 0.042 . . II.75 . . . . . . . . . . . . . . . . . . . . . 1.658 1.658000 . . 0.460000 . . 1.0E-231 0.005 0.169 . 0.529 0.926 . 0.172 . 0.302 1.658 0.345 0.02 . . rs201230195 rs201230195 1 1538 10 1/0 0,204,255 +rs148627371 X 53573366 G A - HUWE1 30892 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase NM_031407.6 -1 14741 13125 NP_113584.3 Q7Z6Z7 substitution intron GRCh37 53573366 53573366 ChrX(GRCh37):g.53573366G>A 10915+31 10915+31 NM_031407.6:c.10915+31C>T p.? p.? 70 70 300697 31 5' 78.1503 6.84436 0.382819 2.59044 78.1503 6.84436 0.382819 II.12 0 Cryptic Acceptor Strongly Activated 53573348 3.90354 0.461729 4.46282 0.559716 rs148627371 yes no Frequency/1000G 2 G 0.000000 0 0.001854 0.000000 0.000000 0.000000 0.006500 0.003800 0.006764 0.001936 0.001732 0.000848 0.000000 0.000182 0.012111 0.008496 0.006911 0.012111 1195 32 44 6 0 3 932 148 30 176669 16532 25410 7072 12462 16480 76953 17419 4341 0.000079 0.000000 0.000000 0.000000 0.000000 0.000000 0.000104 0.000230 0.000461 7 0 0 0 0 0 4 2 1 840 0 0 0 0 0 0 0 0 341 7 12 2 0 2 273 37 8 PASS 0 Exomes+Genomes 6639 3824 10463 88 11 99 0.0130816 0.00286832 0.00937322 0.0130816 0.00286832 0.00937322 29 transition C T C>T 0.000 -0.440 255 PASS . 0.003 0.0036 . 0.01 . 0.0019 0.0029 . 0.005 . . . . . . 0.51785713 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . INTRON(MODIFIER||||HUWE1|mRNA|CODING|NM_031407|) 0.0029 0.0094 0.013 0.0029 0.0094 0.013 . . . . . . . . . . 6.704e-03 . . . 0.0031 0.0078 0.0021 0 0.0160 0.0148 0.0035 0.0002 0.0030 0.0100 0.0017 0 0.0151 0.0189 0.0045 0.0002 . . . . . . intronic intronic intronic . . . 0.0019 . . . 0.45 0.16 182 ENSG00000086758 HUWE1 HUWE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . 0.009373 . . . . . 0.0019 0.0065 0.0017 0.0007 0 0.0085 0.0119 0.0058 0.0002 0.0020 0.0087 0.0048 0.0054 0 0.0087 0.0134 0.0125 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.013 . . rs148627371 rs148627371 1 1538 10 1/0 0,255,255 +rs201805112 X 55102975 T A - PAGE2B 31805 P antigen family, member 2B NM_001015038.2 1 508 336 NP_001015038.1 Q5JRK9 substitution intron GRCh37 55102975 55102975 ChrX(GRCh37):g.55102975T>A 85-27 85-27 NM_001015038.2:c.85-27T>A p.? p.? 3 2 -27 3' 74.4961 7.08116 0.809601 5.77639 74.4961 7.08116 0.809601 5.52377 0 rs201805112 yes no Frequency/1000G 2 T 0.000000 0 0.000530 0.000000 0.000000 0.000000 0.002600 0.000000 0.000572 0.000072 0.000000 0.000000 0.000093 0.000245 0.001186 0.000125 0.000269 0.001186 83 1 0 0 1 3 75 2 1 145042 13886 19579 5665 10770 12223 63237 15959 3723 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 51 0 0 0 0 0 0 0 0 32 1 0 0 0 2 29 0 0 PASS 0 Exomes+Genomes 6676 3826 10502 10 0 10 0.00149566 0 0.000951294 0.00149566 0 0.000951294 17 transversion T A T>A 0.000 -1.086 255 PASS . 0.0012 . . 0.0034 . 0.0005 . . 0.002 . . . . . . 0.5 . . @ 46 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 92.0 . . INTRON(MODIFIER||||PAGE2B|mRNA|CODING|NM_001015038|) . 0.001 0.0015 . 0.001 0.0015 . . . . . . . . . . 5.803e-04 . . . 0 0.0008 0 0.0007 0 0.0014 0.0060 0 0 0.0008 0 0.0007 0 0.0015 0.0089 0 . . . . . . intronic intronic intronic . . . 0.0005 . . . 0.25 0.16 182 ENSG00000238269 PAGE2B PAGE2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201805112 . . . . . . . . . . . . . . . . . . . . . . . 0.000951 . . . . . 0.0001 0.0005 0 0 0.0001 0.0001 0.0012 0 0.0002 0 0.0007 0 0 0 0 0.0014 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0034 . . rs201805112 rs201805112 1 1538 10 1/0 0,255,255 +. X 55172521 G T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution intron GRCh37 55172521 55172521 ChrX(GRCh37):g.55172521G>T 254+93 254+93 NM_001166699.1:c.254+93C>A p.? p.? 3 3 93 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 2.0909 0 rs908148278 no no 0 G 0.000000 0 transversion C A C>A 0.004 1.013 176 PASS . . . . . . . . . . . . . . . . 0.104166664 . . @ 15 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.291 . @ . . . . . 1 0.112 . . 144.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.547 . . exonic exonic exonic . . 0.226 @ . . . . . . ENSG00000182518 FAM104B FAM104B . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.350 0.015 . . 37 . 0.303 . . 0.179 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.757 . . 0 0 0 0 0 0 . 0.414 . . 0.319 . . . . . . 3 0.682 . . . . . 0.191 . 0.160 . LowAF . . . . . . . . . . . . . . 6.0913 . . 1.VI 1.VI . 0.000000 Q5XKR9-3 . . . . . 0.238 . . . . . . . . . . . . . . . . . . . . . . . . 1.084 1.084000 . . 0.000000 . . 1.0E-176 0.989 0.365 . 0.122 0.985 . 0.394 . 0.302 1.084 0.697 . . . . . 1 1538 10 1/0 0,211,255 +rs1047054 X 55172537 G A - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution intron GRCh37 55172537 55172537 ChrX(GRCh37):g.55172537G>A 254+77 254+77 NM_001166699.1:c.254+77C>T p.? p.? 3 3 77 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 2.39526 0 Cryptic Donor Strongly Activated 55172539 53.8177 2.18848 0.044978 66.5139 rs1047054 yes no Frequency 1 G 0.000000 0 0.000029 0.000176 0.000000 0.000000 0.000000 0.000054 0.000026 0.000000 0.000000 0.000176 5 2 0 0 0 1 2 0 0 171058 11396 26023 7175 12608 18601 76753 14555 3947 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 81 Exomes transition C T C>T 0.154 0.125 255 PASS . . . . . . . . . . . . . . . . 0.8 . . @ 140 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.961 . @ . . . . . 0 0.214 . . 175.0 . . . . . . . . . . . . . . . . . . . 3.237e-03 . . . 0.0042 0.0006 0 0 0.0005 0.0001 0 0.0001 0.0045 0.0004 0 0 0.0002 0 0 0 stopgain stopgain stopgain . . . exonic exonic exonic . . 0.168 @ . . . 0.46 0.51 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . 0.248 . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . 0.112 . . . HOM . rs1047054 . . . . . . . . . . . . IV.36 . . I.59 0.637 . 1.000000 . . . . . . 0.219 . . . 0.0002 2.923e-05 0 0 0 0 2.606e-05 0 5.376e-05 . . . . . . . . . . . . 0.126 0.126000 . . 1.000000 . . 1.0E-255 1.000 0.715 . 0.227 0.992 . 0.325 . 0.302 0.126 0.697 . rs1047054 rs1047054 rs1047054 rs1047054 1 1538 10 1/0 0,225,219 +rs111573608 X 55172572 G A - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution intron GRCh37 55172572 55172572 ChrX(GRCh37):g.55172572G>A 254+42 254+42 NM_001166699.1:c.254+42C>T p.? p.? 3 3 42 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 1.94437 0 Cryptic Acceptor Strongly Activated 55172573 6.29209 0.018586 70.9446 7.02018 0.06716 70.9446 rs111573608 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 176195 12187 26392 7257 12800 18929 78783 15834 4013 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 87 Exomes transition C T C>T 0.031 -1.328 230 PASS . . . . . . . . . . . . . . . . 0.26431718 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.013 . @ . . . . . 1 0.053 . . 227.0 . . . . . . . . . . . . . . . . . . . 9.787e-04 . . . 0 1.586e-05 0 0 0 3.46e-05 0 0 0 1.354e-05 0 0 0 2.676e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.374 . . exonic exonic exonic . . 0.048 @ . . . 0.43 0.51 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.033 0.002 . . 37 . 0.133 . . 0.313 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.026 . . 0.013 . . . . . . 3 0.010 . . . . . 0.203 . 0.028 . HET . rs111573608 . . . . . . . . . . . . VI.36 . . 1.VI -3.2 . 1.000000 Q5XKR9-3 . . . . . 0.044 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . -1.373 -1.373000 . . 1.000000 . . 1.0E-230 0.987 0.361 . 0.337 0.988 . 0.153 . 0.012 -1.373 -0.084 . . . rs111573608 rs111573608 1 1538 10 1/0 0,206,255 +rs113745415 X 55172606 G A - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution intron GRCh37 55172606 55172606 ChrX(GRCh37):g.55172606G>A 254+8 254+8 NM_001166699.1:c.254+8C>T p.? p.? 3 3 8 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.986904 1.62578 -0.0014571 Cryptic Acceptor Strongly Activated 55172596 0.420653 0.0001 67.7234 1.61022 0.000214 71.0061 rs113745415 yes no Frequency 1 G 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 178075 12235 26554 7282 12859 19098 79819 16180 4048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 90 Exomes COSM4156930|COSM4156930 Thyroid|Large intestine 0.002677|0.005379 747|2231 transition C T C>T 0.000 0.125 236 PASS . . . . . . . . . . . . . . . . 0.2591241 . . @ 71 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.226 . @ . . . . . 1 0.571 . . 274.0 . . . . . . . . . . . . . . . . . . . 2.526e-04 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.405 . . exonic exonic exonic . . 0.168 @ . . . 0.43 0.5 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.095 0.004 . . 37 . 0.197 . . 0.158 . . . . 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.093 . . 0 0 0 0 0 0 . 0.258 . . 0.154 . . . . . . 3 0.440 . . . . . 0.113 . 0.024 . HET . rs113745415 . . . . . . . . . . . . IV.67 . . 1.VI 0.635 . 0.060000 Q5XKR9-3 . . . . . 0.214 . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . 0.130 0.130000 . . 0.060000 . . 1.0E-236 0.999 0.424 . 0.157 0.530 . 0.281 . 0.302 0.130 0.697 . . . rs113745415 rs113745415 1 1538 10 1/0 0,197,255 +rs1047042 X 55172645 C T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172645 55172645 ChrX(GRCh37):g.55172645C>T 223 223 NM_001166699.1:c.223G>A p.Asp75Asn p.Asp75Asn 3 -32 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 1.49878 0 rs1047042 yes no Frequency/1000G 2 C 0.000000 0 0.001324 0.004000 0.000000 0.000000 0.001300 0.000000 0.000011 0.000088 0.000000 0.000139 0.000000 0.000000 0.000000 0.000000 0.000000 0.000139 2 1 0 1 0 0 0 0 0 174126 11397 26133 7196 12318 18299 78798 15997 3988 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 104 Exomes COSM4156934|COSM4156934 Thyroid|Haematopoietic and lymphoid tissue 0.001339|0.000567 747|3530 transition G A G>A 0.000 -0.360 D Asp GAT 0.461 N Asn AAT 0.464 75 10 2 Chimp 2 1 2 I.38 I.33 13 11.VI 54 56 23 C0 66.42 0.00 Tolerated 1 III.34 good 9.641E-1 0.0142 255 PASS . . . . . 0.003 0.0013 . . 0.001 . . . . . . 0.72425246 . . @ 218 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.034 . @ . . . . . 1 0.003 . . 301.0 . . . . . . . . . . . . . . . . . . . 2.107e-03 . . . 0.0014 0.0002 0 0 0 3.4e-05 0 0 0.0016 0.0002 0 0 0 2.642e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.402 . . exonic exonic exonic . . 0.095 0.0013 . . . 0.42 0.59 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.174 . . . . T 0.066 0.003 . . 37 . 0.152 . . 0.157 . . . 0.026 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.102 . . 0.040 . . . . . . 0 0.045 . . . . . 0.100 . 0.007 . HET 0.81 rs1047042 0.098 0.109 . . . . . . . . . . IV.47 . . I.59 -1.04 . 0.400000 . . . . . . 0.007 . . . 8.774e-05 1.149e-05 0 0.0001 0 0 0 0 0 . . . . . . . . . . . . -0.355 -0.355000 . . 0.400000 . . 1.0E-255 0.003 0.159 . 0.016 0.001 . 0.141 . 0.039 -0.355 -1.026 0.098 rs1047042 rs1047042 rs1047042 rs1047042 1 1538 10 1/0 0,215,212 +rs751109928 X 55172675 C T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172675 55172675 ChrX(GRCh37):g.55172675C>T 193 193 NM_001166699.1:c.193G>A p.Gly65Ser p.Gly65Ser 3 -62 5' 77.8109 7.48405 0.991237 2.0909 77.8109 7.48405 0.991237 2.19458 0 rs751109928 yes no Frequency 1 C 0.000000 0 0.000006 0.000000 0.000000 0.000000 0.000000 0.000052 0.000000 0.000000 0.000000 0.000052 1 0 0 0 0 1 0 0 0 178666 12245 26574 7292 12869 19143 80104 16383 4056 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 91 Exomes COSM4156936|COSM4156936 Thyroid|Large intestine 0.002677|0.002241 747|2231 transition G A G>A 0.016 0.044 G Gly GGC 0.342 S Ser AGC 0.243 65 10 3 Macaque 0 0 -1 0.74 I.42 9 9.II 3 32 56 C0 106.21 0.00 Tolerated 0.94 III.34 good 9.977E-1 0.04414 178 PASS . . . . . . . . . . . . . . . . 0.10828026 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.050 . @ . . . . . 1 0.102 . . 314.0 . . . . . . . . . . . . . . . . . . . 7.893e-06 . . . 0 1.537e-05 0 0 0 0 0 9.887e-05 0 1.316e-05 0 0 0 0 0 9.958e-05 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.398 . . exonic exonic exonic . . 0.157 @ . . . 0.44 0.6 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.171 . . . . T 0.151 0.006 . . 37 . 0.299 . . 0.270 . . . 0.030 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.017 . . 0 0 0 0 0 0 . 0.604 . . 0.754 . . . . . . 0 0.087 . . . . . 0.055 . 0.097 . LowAF 0.36 rs751109928 . . . . . . . . . . . . II.45 . . 1.VI 0.436 . 0.760000 . . . . . . 0.049 . . . 0 5.597e-06 0 0 0 0 0 0 5.224e-05 . . . . . . . . . . . . 0.049 0.049000 . . 0.760000 . . 1.0E-178 0.980 0.350 . 0.254 0.518 . 0.247 . 0.111 0.049 -0.334 . rs5010975 rs5010975 rs5010975 rs5010975 1 1538 10 1/0 0,178,255 +rs111638770 X 55172680 G C - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172680 55172680 ChrX(GRCh37):g.55172680G>C 188 188 NM_001166699.1:c.188C>G p.Pro63Arg p.Pro63Arg 3 65 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.65 0 rs111638770 no no 0 G 0.000000 0 COSM5461082 Large intestine 0.001345 2231 transversion C G C>G 0.039 1.013 P Pro CCA 0.274 R Arg CGA 0.110 63 10 8 Platypus -2 -2 -3 0.39 0.65 8 10.V 32.5 124 103 C0 97.59 39.51 Deleterious 0.04 III.34 bad 5.879E-5 0.006506 231 PASS . . . . . . . . . . . . . . . . 0.24429968 . . @ 75 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.457 . @ . . . . . 1 0.723 . . 307.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.558 . . exonic exonic exonic . . 0.226 @ . . . 0.43 0.62 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.171 . . . . T 0.323 0.013 . . 37 . 0.574 . . 0.399 . . . 0.469 0.182 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.919 . . 0 0 0 0 0 0 . 0.764 . . 0.782 . . . . . . 0 0.784 . . . . . 0.191 . 0.480 . HET 0 rs111638770 . . . . . . . . . . . . 6.0913 . . 1.VI 1.VI . 0.000000 . . . . . . 0.264 . . . . . . . . . . . . . . . . . . . . . . . . 1.084 1.084000 . . 0.000000 . . 1.0E-231 0.999 0.424 . 0.246 0.417 . 0.425 . 0.302 1.084 -0.287 . . . rs111638770 rs111638770 1 1538 10 1/0 0,191,255 +rs796781627 X 55172686 C T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172686 55172686 ChrX(GRCh37):g.55172686C>T 182 182 NM_001166699.1:c.182G>A p.Ser61Asn p.Ser61Asn 3 59 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.56 0 rs796781627 no no 0 C 0.000000 0 COSM5452364 Large intestine 0.001793 2231 transition G A G>A 0.000 -0.279 S Ser AGT 0.149 N Asn AAT 0.464 61 10 8 Chicken 1 1 1 I.42 I.33 9.II 11.VI 32 56 46 C0 55.27 45.82 Tolerated 0.08 III.34 bad 5.727E-3 0.001233 219 PASS . . . . . . . . . . . . . . . . 0.20875421 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.047 . @ . . . . . 1 0.143 . . 297.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.529 . . exonic exonic exonic . . 0.117 @ . . . . . . ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.266 . . . . T 0.089 0.004 . . 37 . 0.317 . . 0.157 . . . 0.479 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.476 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.359 . . . . . 0.034 . 0.020 . HET 0.06 . . . . . . . . . . . . . 2.1072 . . 1.VI -0.424 . 0.120000 . . . . . . 0.045 . . . . . . . . . . . . . . . . . . . . . . . . -0.249 -0.249000 . . 0.120000 . . 1.0E-219 0.004 0.165 . 0.210 0.426 . 0.239 . 0.108 -0.249 0.666 . . . . . 1 1538 10 1/0 0,189,255 +rs1047037 X 55172687 T C - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172687 55172687 ChrX(GRCh37):g.55172687T>C 181 181 NM_001166699.1:c.181A>G p.Ser61Gly p.Ser61Gly 3 58 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.71 0 Cryptic Donor Strongly Activated 55172687 0.002094 55.4909 3.09325 0.086316 67.6269 rs1047037 yes no Frequency 1 T 0.000000 0 COSM6277745 Liver 0.000844 2371 transition A G A>G 0.000 -0.360 S Ser AGT 0.149 G Gly GGT 0.162 61 10 8 Chicken 0 0 -1 I.42 0.74 9.II 9 32 3 56 C0 55.27 0.00 Tolerated 0.34 III.34 good 5.384E-1 0.001233 255 PASS . . . . . . . . . . . . . . . . 0.6904762 . . @ 203 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.033 . @ . . . . . 1 0.177 . . 294.0 . . . . . . . . . . . . . . . . . . . 3.946e-05 . . . 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.533 . . exonic exonic exonic . . 0.099 @ . . . 0.45 0.65 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.266 . . . . T 0.100 0.004 . . 37 . 0.326 . . 0.155 . . . 0.290 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.659 . . 0 0 0 0 0 0 . 0.274 . . 0.255 . . . . . . 0 0.531 . . . . . 0.098 . 0.058 . HET 0.15 rs1047037 0.250 0.246 . . . . . . . . . . 4.198 . . I.59 -0.917 . 0.090000 . . . . . . 0.040 . . . . . . . . . . . . . . . . . . . . . . . . -0.353 -0.353000 . . 0.090000 . . 1.0E-255 0.001 0.137 . 0.208 0.441 . 0.195 . 0.119 -0.353 -0.247 0.25 rs1047037 rs1047037 rs1047037 rs1047037 1 1538 10 1/0 0,223,223 +rs797005327 X 55172689 G T - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172689 55172689 ChrX(GRCh37):g.55172689G>T 179 179 NM_001166699.1:c.179C>A p.Ala60Glu p.Ala60Glu 3 56 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.65 0 rs797005327 no no 0 G 0.000000 0 COSM5764797|COSM5764797 Liver|Large intestine 0.000422|0.000896 2371|2231 transversion C A C>A 0.000 -0.279 A Ala GCA 0.226 E Glu GAA 0.417 60 10 8 Chicken -1 -1 -2 0 0.92 8.I 12.III 31 83 107 C0 103.39 72.02 Deleterious 0.01 III.34 bad 5.44E-6 0.001201 221 PASS . . . . . . . . . . . . . . . . 0.21548821 . . @ 64 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.064 . @ . . . . . 1 0.027 . . 297.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.475 . . exonic exonic exonic . . 0.111 @ . . . . . . ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.222 . . . . T 0.108 0.004 . . 37 . 0.308 . . 0.144 . . . 0.326 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.511 . . 0 0 0 0 0 0 . 0.402 . . 0.428 . . . . . . 0 0.282 . . . . . 0.044 . 0.266 . HET 0.26 . . . . . . . . . . . . . II.25 . . 1.VI -0.582 . 0.330000 . . . . . . 0.041 . . . . . . . . . . . . . . . . . . . . . . . . -0.288 -0.288000 . . 0.330000 . . 1.0E-221 0.000 0.063 . 0.205 0.496 . 0.071 . 0.116 -0.288 -0.289 . . . . . 1 1538 10 1/0 0,190,255 +rs1047034 X 55172708 T G - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55172708 55172708 ChrX(GRCh37):g.55172708T>G 160 160 NM_001166699.1:c.160A>C p.Ile54Leu p.Ile54Leu 3 37 3' 91.8472 X.45 0.993829 XII.97 91.8472 X.45 0.993829 XII.78 0 Cryptic Acceptor Strongly Activated 55172695 2.1319 0.006342 77.5913 3.61457 0.022511 80.2843 rs1047034 yes no Frequency 1 T 0.000000 0 0.000006 0.000000 0.000000 0.000000 0.000000 0.000000 0.000012 0.000000 0.000000 0.000012 1 0 0 0 0 0 1 0 0 178494 12242 26575 7294 12868 19139 80092 16230 4054 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 90 Exomes COSM4156938|COSM4156938 Thyroid|Liver 0.001339|0.000422 747|2371 transversion A C A>C 0.000 -0.440 I Ile ATT 0.356 L Leu CTT 0.129 54 10 10 Chicken 2 2 2 0 0 5.II 4.IX 111 111 5 C0 0.00 IV.86 Deleterious 0 III.34 bad 8.214E-3 0.0003309 255 PASS . . . . . . . . . . . . . . . . 0.6725979 . . @ 189 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.175 . @ . . . . . 1 0.135 . . 281.0 . . . . . . . . . . . . . . . . . . . 3.157e-05 . . . 0 0 0 0 0 0 0 0 0 1.317e-05 0 0 0 2.602e-05 0 0 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.592 . . exonic exonic exonic . . 0.088 @ . . . 0.5 0.65 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.517 . . . . . . . Uncertain_significance . 0 . 0.179 . . . . T 0.300 0.012 . . 37 . 0.487 . . 0.511 . . . 0.530 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.450 . . 0 0 0 0 0 0 . 0.254 . . 0.382 . . . . . . 0 0.912 . . . . . 0.113 . 0.266 . HET 0.08 rs1047034 0.370 0.355 . . . . . . . . . . IV.93 . . I.59 -1.26 . 0.010000 . . . . . . 0.249 . . . 0 5.602e-06 0 0 0 0 1.249e-05 0 0 . . . . . . . . . . . . -0.432 -0.432000 . . 0.010000 . . 1.0E-255 1.000 0.715 . 0.122 0.991 . 0.257 . 0.118 -0.432 0.755 0.37 rs1047034 rs1047034 rs1047034 rs1047034 1 1538 10 1/0 0,226,229 +rs113840740 X 55185568 A G - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution synonymous exon GRCh37 55185568 55185568 ChrX(GRCh37):g.55185568A>G 114 114 NM_001166699.1:c.114T>C p.Asp38= p.Asp38Asp 2 -10 5' 73.5658 0 0 0 73.5658 0 0 0 0 rs113840740 yes no Frequency 1 0.000000 0 0.000047 0.000000 0.000328 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000328 8 0 8 0 0 0 0 0 0 168771 11689 24359 7014 11834 16716 77147 16232 3780 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 3 0 3 0 0 0 0 0 0 PASS 69 Exomes COSM4156942|COSM4156942 Thyroid|Liver 0.004016|0.000422 747|2371 transition T C T>C 0.000 -2.297 D Asp GAT 0.461 D Asp GAC 0.539 38 200 PASS . . . . . . . . . . . . . . . . 0.16216215 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 37.0 . . . . . . . . . . . . . . . . . . . 3.946e-05 . . . 0 4.71e-05 0.0003 0 0 0 0 0 0 4.026e-05 0.0003 0 0 0 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.51 0.35 182 ENSG00000182518 FAM104B FAM104B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs113840740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.74e-05 0.0003 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-200 . . . . . . . . . . . . . . rs113840740 rs113840740 1 1538 10 1/0 0,255,255 +rs867116961 X 55185656 C A - FAM104B 25085 Family with sequence similarity 104, member B NM_001166699.1 -1 1067 351 NP_001160171.1 substitution missense exon GRCh37 55185656 55185656 ChrX(GRCh37):g.55185656C>A 26 26 NM_001166699.1:c.26G>T p.Arg9Ile p.Arg9Ile 2 6 3' 90.5122 9.11526 0.808401 6.94192 90.5122 9.11526 0.781049 6.92773 -0.0112782 rs867116961 no no 0 C 0.000000 0 COSM4806091|COSM4806091|COSM4806091 Thyroid|Lung|Liver 0.001339|0.000419|0.000844 747|2389|2371 transversion G T G>T 0.563 1.416 R Arg AGA 0.205 I Ile ATA 0.163 9 10 9 Chicken -3 -3 -5 0.65 0 10.V 5.II 124 111 97 C35 26.00 89.09 Deleterious 0.01 III.34 bad 4.668E-5 0.000186 255 PASS . . . . . . . . . . . . . . . . 0.42957747 . . @ 61 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.628 . @ . . . . . 1 0.147 . . 142.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.579 . . exonic exonic exonic . . 0.272 @ . . . 0.53 0.35 182 ENSG00000182518 FAM104B FAM104B . . . 1.000 0.408 . . . . . . . Uncertain_significance . 0 . 0.360 . . . . T 0.329 0.013 . . 37 . 0.587 . . 0.594 . . . 0.514 0.501 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.949 . . 0 0 0 0 0 0 . 0.764 . . 0.807 . . . . . . 0 0.555 . . . . . 0.257 . 0.697 . HET 0 . . . . . . . . . . . . . VII.91 . . II.25 II.25 . 0.020000 . . . . . . 0.255 . . II.25 . . . . . . . . . . . . . . . . . . . . . 1.426 1.426000 . . 0.020000 . . 1.0E-255 0.910 0.314 . 0.374 0.997 . 0.320 . 0.291 1.426 0.666 . rs5003001 rs5003001 rs5003001 rs5003001 1 1538 10 1/0 0,243,255 +rs201872206 X 57146927 G A - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution missense exon GRCh37 57146927 57146927 ChrX(GRCh37):g.57146927G>A 136 136 NM_001006681.1:c.136C>T p.Arg46Cys p.Arg46Cys 2 300517 138 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.26 0 rs201872206 yes no Frequency 1 0.000000 0 0.000847 0.000358 0.000663 0.000000 0.001373 0.004001 0.000217 0.000850 0.000691 0.004001 41 2 6 0 8 18 4 2 1 48417 5580 9051 1198 5828 4499 18462 2352 1447 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 38 0 0 0 0 0 0 0 0 3 0 0 0 2 0 1 0 0 RF 0 Exomes+Genomes transition C T C>T 0.992 0.125 R Arg CGC 0.190 C Cys TGC 0.552 46 12 8 Horse -3 -3 -6 0.65 II.75 10.V 5.V 124 55 180 C0 257.76 0.00 Tolerated 0.07 III.40 good 2.879E-1 0.3982 218 PASS . . . . . . . . . . . . . . . . 0.2055336 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.277 . @ . . . . . 1 0.221 . . 253.0 . . . . . . . . . . . . . . . . . . . 4.457e-04 . . . 0 0.0025 0 0 0 0.0008 0 0.0336 0 0.0059 0 0 0 0.0033 0 0.0360 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.494 . . exonic exonic exonic . . 0.219 @ . . . 0.49 0.26 182 ENSG00000186787 SPIN2B SPIN2B . . . 0.999 0.386 . . . . . . . Likely_benign . 0 . 0.362 . . . . . . . . . 37 . 0.301 . . 0.143 . . . 0.191 0.450 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.657 . . 0 0 0 0 0 0 . 0.067 . . 0.013 . . . . . . 0 0.469 . . . . . 0.046 . 0.460 . HET 0.02 rs201872206 . . . . . . . . . . . . II.85 . . II.37 1.V . 0.020000 Q9BPZ2 . . Name\x3dnsv483129 . . 0.353 . . . 0.0002 0.0009 0.0007 0 0.0012 0.0010 0.0003 0.0008 0.0040 0.0008 0.0005 0 0 0.0066 0.0007 0 0 . . . . 0.460 0.460000 . . 0.020000 . . 1.0E-218 1.000 0.715 . 0.529 0.981 . 0.321 . 0.290 0.460 0.589 . rs2003812 rs2003812 rs2003812 rs2003812 1 1538 10 1/0 0,196,255 +rs200446826 X 57146931 C T - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution synonymous exon GRCh37 57146931 57146931 ChrX(GRCh37):g.57146931C>T 132 132 NM_001006681.1:c.132G>A p.Gln44= p.Gln44Gln 2 300517 134 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.26 0 Cryptic Acceptor Strongly Activated 57146922 4.26431 0.7533 9.71344 0.759369 79.1288 rs200446826 yes no Frequency 1 0.000000 0 0.000725 0.000358 0.000662 0.000000 0.000516 0.003785 0.000218 0.000847 0.000691 0.003785 35 2 6 0 3 17 4 2 1 48306 5592 9059 1199 5809 4492 18347 2360 1448 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 34 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 RF 0 Exomes+Genomes transition G A G>A 0.992 0.690 Q Gln CAG 0.744 Q Gln CAA 0.256 44 207 PASS . . . . . . . . . . . . . . . . 0.1764706 . . @ 42 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 238.0 . . . . . . . . . . . . . . . . . . . 4.339e-04 . . . 0 0.0021 0 0 0 0.0008 0 0.0256 0 0.0038 0 0 0 0 0 0.0275 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.47 0.28 182 ENSG00000186787 SPIN2B SPIN2B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs200446826 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv483129 . . . . . . 0.0002 0.0008 0.0007 0 0.0005 0.0010 0.0003 0.0008 0.0038 0.0008 0.0003 0 0 0 0.0007 0 0 . . . . . . . . . . . 1.0E-207 . . . . . . . . . . . . rs2020223 rs2020223 rs2020223 rs200446826 1 1538 10 1/0 0,196,255 +rs201521097 X 57146945 G T - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution synonymous exon GRCh37 57146945 57146945 ChrX(GRCh37):g.57146945G>T 118 118 NM_001006681.1:c.118C>A p.Arg40= p.Arg40Arg 2 300517 120 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.26 0 rs201521097 yes no Frequency 1 0.000000 0 0.000744 0.000376 0.000571 0.000000 0.000177 0.004344 0.000353 0.000000 0.000719 0.004344 34 2 5 0 1 19 6 0 1 45729 5316 8752 1121 5649 4374 16993 2133 1391 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 30 0 0 0 0 0 0 0 0 4 0 1 0 0 1 2 0 0 RF|AC0 0 Exomes+Genomes transversion C A C>A 0.520 0.125 R Arg CGA 0.110 R Arg AGA 0.205 40 226 PASS . . . . . . . . . . . . . . . . 0.2300885 . . @ 52 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 226.0 . . . . . . . . . . . . . . . . . . . 4.435e-04 . . . 0 0.0034 0 0 0 0.0030 0 0.0317 0 0.0043 0 0 0 0 0 0.0351 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.54 0.35 182 ENSG00000186787 SPIN2B SPIN2B . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201521097 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv483129 . . . . . II.37 0.0005 0.0008 0.0006 0 0.0002 0 0.0004 0.0009 0.0043 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . . rs4266782 rs4266782 rs4266782 rs201521097 1 1538 10 1/0 0,203,255 +rs756956474 X 57147093 A G - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution intron GRCh37 57147093 57147093 ChrX(GRCh37):g.57147093A>G -31 -31 NM_001006681.1:c.-2-29T>C p.? p.? 2 1 300517 -29 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.86 0 rs756956474 yes no Frequency/1000G 2 0.008212 G 31 0.008212 0.011000 0.008400 0.018300 0.000000 0.000000 0.003337 0.009563 0.001005 0.000000 0.010200 0.007703 0.000064 0.000000 0.000000 0.010200 141 53 7 0 51 29 1 0 0 42258 5542 6968 936 5000 3765 15645 3125 1277 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 120 0 0 0 0 0 0 0 0 21 6 1 0 14 0 0 0 0 RF 0 Exomes+Genomes transition T C T>C 0.000 0.205 228 PASS . . . . . 0.0083 0.0082 . 0.014 . 0.0061 . . . . . 0.23853211 . . @ 26 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 109.0 . . . . . . . . . . . . . . . . . . . 1.247e-03 . . . 0.0364 0.0073 0 0.0556 . 0 0 0 0.0714 0.0625 0 0.1 . 0 . . . . . . . . intronic intronic intronic . . . 0.0082 . . . 0.69 0.38 182 ENSG00000186787 SPIN2B SPIN2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs756956474 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv483129 . . . . . . 0.0106 0.0036 0.0010 0 0.0105 0 0 0 0.0077 0.0073 0.0020 0 0 0.0044 0 0.0003 0 . . . . . . . . . . . 1.0E-228 . . . . . . . . . . . 0.011 . rs73494658 rs73494658 rs73494658 1 1538 10 1/0 0,236,255 +rs778368332 X 57147096 C T - SPIN2B 33147 Spindlin family, member 2B NM_001006681.1 -1 1259 777 NP_001006682.1 Q9BPZ2 substitution intron GRCh37 57147096 57147096 ChrX(GRCh37):g.57147096C>T -34 -34 NM_001006681.1:c.-2-32G>A p.? p.? 2 1 300517 -32 3' 0 8.66844 0.886167 X.26 0 8.66844 0.886167 X.24 0 Cryptic Donor Strongly Activated 57147099 3.29818 0.439657 72.3752 7.43136 0.983121 76.7375 rs778368332 yes no Frequency/1000G 2 0.008212 T 31 0.008212 0.011000 0.008400 0.018300 0.000000 0.000000 0.003340 0.009426 0.000877 0.000000 0.010200 0.007775 0.000127 0.000000 0.000769 0.010200 142 53 6 0 51 29 2 0 1 42517 5623 6839 926 5000 3730 15751 3347 1301 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 121 0 0 0 0 0 0 0 0 21 6 1 0 14 0 0 0 0 RF 0 Exomes+Genomes transition G A G>A 0.000 -1.005 226 PASS . . . . . 0.0083 0.0082 . 0.014 . 0.0061 . . . . . 0.23148148 . . @ 25 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 108.0 . . . . . . . . . . . . . . . . . . . 1.272e-03 . . . 0.0377 0.0072 0 0.0476 . 0 0 0 0.0833 0.0588 0 0.0833 . 0 . . . . . . . . intronic intronic intronic . . . 0.0082 . . . 0.7 0.38 182 ENSG00000186787 SPIN2B SPIN2B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs778368332 0.011 0.007 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv483129 . . . . . . 0.0107 0.0036 0.0009 0 0.0105 0 0 0 0.0078 0.0069 0.0021 0 0 0.0039 0 0.0006 0.0031 . . . . . . . . . . . 1.0000000000000001E-226 . . . . . . . . . . . 0.011 rs56890705 rs56890705 rs56890705 rs56890705 1 1538 10 1/0 0,235,255 +. X 65247905 T G - VSIG4 17032 V-set and immunoglobulin domain containing 4 NM_007268.2 -1 1852 1200 NP_009199.1 Q9Y279 substitution synonymous exon GRCh37 65247905 65247905 ChrX(GRCh37):g.65247905T>G 744 744 NM_007268.2:c.744A>C p.Thr248= p.Thr248Thr 4 300353 -14 5' 95.331 X.37 0.983575 6.96921 95.331 X.37 0.983575 6.86458 0 Cryptic Acceptor Strongly Activated 65247891 IV.75 0.008975 70.4701 6.03366 0.027544 73.0977 transversion A C A>C 0.000 0.770 T Thr ACA 0.280 T Thr ACC 0.361 248 177 PASS . . . . . . . . . . . . . . . . 0.10769231 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 65.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000155659 VSIG4 VSIG4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . VII.45 . ENST00000427538 IV.41 III.21 . . . . . . . . . . . III.21 . . . . . . . . . . . . . . . . . . . . . 0.536 0.536000 . . . . . 1.0E-177 . . . . . . . . . 0.536 . . . . . . 1 1538 10 1.I 0,0,0 +. X 65247907 T G - VSIG4 17032 V-set and immunoglobulin domain containing 4 NM_007268.2 -1 1852 1200 NP_009199.1 Q9Y279 substitution missense exon GRCh37 65247907 65247907 ChrX(GRCh37):g.65247907T>G 742 742 NM_007268.2:c.742A>C p.Thr248Pro p.Thr248Pro 4 300353 -16 5' 95.331 X.37 0.983575 6.96921 95.331 X.37 0.983575 6.72785 0 Cryptic Acceptor Weakly Activated 65247891 IV.75 0.008975 70.4701 4.60733 0.023591 70.4701 transversion A C A>C 0.000 -0.198 T Thr ACA 0.280 P Pro CCA 0.274 248 11 2 Chimp -1 -1 -3 0.71 0.39 8.VI 8 61 32.5 38 C0 353.86 0.00 Tolerated 0.18 III.99 unknown 0.0 0.0 175 PASS . . . . . . . . . . . . . . . . 0.104477614 . . @ 7 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.059 . @ . . . . . 1 0.019 . . 67.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.358 . . exonic exonic exonic . . 0.123 @ . . . . . . ENSG00000155659 VSIG4 VSIG4 . . . 1.000 0.407 . . . . . . . Uncertain_significance . 0 . 0.024 . . . . T 0.047 0.002 . . 37 . 0.334 . . 0.245 . . . 0.065 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 0.332 . . 0 0 0 0 0 0 . 0.067 . . 0.063 . . . . . . 0 0.256 . . . . . 0.439 . 0.560 . LowAF 0.1 . . . . . . . . . . . . . X.34 . . IV.41 -0.264 . 0.260000 . . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . . . -0.017 -0.017000 . . 0.260000 . . 1.0E-175 0.000 0.063 . 0.167 0.007 . 0.058 . 0.035 -0.017 -0.720 . . . . . 1 1538 10 1.I 0,0,0 +. X 70609391 GTTT G - TAF1 11535 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa NM_001286074.1 1 7723 5688 NP_001273003.1 deletion intron GRCh37 70609395 70609397 ChrX(GRCh37):g.70609395_70609397del 2761-40 2761-38 NM_001286074.1:c.2761-40_2761-38del p.? p.? 18 17 313650 -38 3' 91.25 X.98 0.980942 9.09742 91.25 X.98 0.980942 IX.93 0 rs756213103 yes no Frequency/1000G 2 0.000530 - 2 0.000530 0.001000 0.000000 0.000000 0.001300 0.000000 0.000795 0.000289 0.000452 0.000000 0.000000 0.000000 0.001439 0.000163 0.000504 0.001439 137 5 8 0 0 0 119 3 2 172269 17322 17686 6140 11762 14314 82677 18397 3971 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 87 0 0 0 0 0 0 0 0 50 1 2 0 0 0 47 0 0 PASS 0 Exomes+Genomes 6468 3715 10183 8 5 13 0.00123533 0.00134409 0.00127501 0.00123533 0.00134409 0.00127501 61 TTT 255 Pass . . . . . 0.0008 0.0005 . . 0.001 . . . . . . 0.51724136 . . . 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 58 . . . 0.0013 0.0013 0.0012 0.0013 0.0013 0.0012 . . . . . . . . . . 6.630e-04 . . . 0.0004 0.0007 0.0005 0 0 0.0012 0 0 0.0004 0.0006 0.0006 0 0 0.0009 0 0 . . . . . . intronic ncRNA_intronic ncRNA_intronic . . . . . . . . . . ENSG00000147133 BCYRN1 BCYRN1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs756213103 . . . . . . . . . . . . . . . . . . . . . . . 0.001274 . . . . . 0.0003 0.0008 0.0005 0 0 0.0002 0.0015 0.0003 0 0.0003 0.0007 0 0 0 0 0.0012 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0013 . . . . 1 1538 10 1.I 0,12,29 +rs6625842 X 70937090 A G - CXorf49 30891 Chromosome X open reading frame 49 NM_001145140.1 -1 1851 1545 NP_001138612.1 substitution synonymous exon GRCh37 70937090 70937090 ChrX(GRCh37):g.70937090A>G 912 912 NM_001145140.1:c.912T>C p.Ala304= p.Ala304Ala 1 -313 5' 83.5016 9.09532 0.98588 X.86 83.5016 9.09532 0.98588 X.86 0 rs6625842 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 -0.924 A Ala GCT 0.263 A Ala GCC 0.403 304 111 PASS . . . . . . . . . . . . CXorf49B:uc011mpy.2:exon1:c.T912C:p.A304A . . . 1.0 . . @ 146 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.66 0.42 182 ENSG00000215115 CXorf49B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs6625842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs6625842 rs6625842 rs6625842 rs6625842 1 1538 255 1.I 0,0,255 +rs6625842 X 70937090 A G - CXorf49B 34229 Chromosome X open reading frame 49B NM_001145139.1 -1 1851 1545 NP_001138611.1 substitution synonymous exon GRCh37 70937090 70937090 ChrX(GRCh37):g.70937090A>G 912 912 NM_001145139.1:c.912T>C p.Ala304= p.Ala304Ala 1 -313 5' 83.5016 9.09532 0.98588 X.86 83.5016 9.09532 0.98588 X.86 0 rs6625842 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes transition T C T>C 0.000 -0.924 A Ala GCT 0.263 A Ala GCC 0.403 304 111 PASS . . . . . . . . . . . . CXorf49B:uc011mpy.2:exon1:c.T912C:p.A304A . . . 1.0 . . @ 146 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 146.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.66 0.42 182 ENSG00000215115 CXorf49B . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . rs6625842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs6625842 rs6625842 rs6625842 rs6625842 1 1538 255 1.I 0,0,255 +rs879964120 (chrX:70984185 T/C) X 70984185 T C Not on a known gene +rs188658962 X 71406253 C G - PIN4 8992 Protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) NM_006223.3 1 1324 471 NP_006214.2 substitution intron GRCh37 71406253 71406253 ChrX(GRCh37):g.71406253C>G 119-58 119-58 NM_006223.3:c.119-58C>G p.? p.? 2 1 300252 -58 3' 84.1441 7.60544 0.965434 6.88619 84.1441 7.60544 0.965434 6.97274 0 rs188658962 yes no Frequency/1000G 2 C 0.000000 0 0.001589 0.000000 0.001400 0.000000 0.005200 0.001900 0.006063 0.001259 0.002789 0.001055 0.000000 0.000266 0.010006 0.010582 0.004749 0.010582 934 18 62 7 0 4 655 169 19 154050 14294 22232 6638 10406 15049 65459 15971 4001 0.000039 0.000000 0.000000 0.000000 0.000000 0.000000 0.000092 0.000000 0.000000 3 0 0 0 0 0 3 0 0 661 0 0 0 0 0 0 0 0 267 4 17 3 0 0 191 43 9 PASS 0 Exomes+Genomes 2375 1208 3583 16 1 17 0.00669176 0.00082713 0.00472222 0.00669176 0.00082713 0.00472222 57 transversion C G C>G 0.000 -0.360 255 PASS . 0.0024 . . 0.01 . 0.0016 0.0014 . 0.004 0.001 ENSG00000102309:ENST00000373662:exon2:c.C288G:p.D96E . . . . 0.39473686 . . @ 30 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 76.0 . . . 0.0008 0.0047 0.0067 0.0008 0.0047 0.0067 . . . . . . . . . . 4.473e-03 . . . 0.0014 0.0066 0.0124 0 0.0217 0.0107 0.0173 0.0004 0.0009 0.0094 0.0134 0 0.0283 0.0185 0.0280 0.0004 nonsynonymous_SNV . . . . . exonic intronic intronic . . . 0.0016 . . . 0.31 0.25 182 ENSG00000102309 PIN4 PIN4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs188658962 . . . . . . . . . . . . . . . . . . . . . . . 0.004722 . . . . . 0.0014 0.0057 0.0029 0.0011 0 0.0108 0.0094 0.0024 0.0003 0.0010 0.0083 0 0 0 0.0094 0.0130 0.0156 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs188658962 rs188658962 1 1538 10 1/0 0,255,255 +rs774860836 X 73065663 C G - XIST 12810 X inactive specific transcript (non-protein coding) NR_001564.2 -1 19280 0 substitution exon GRCh37 73065663 73065663 ChrX(GRCh37):g.73065663C>G 6926 6926 NR_001564.2:n.6926G>C 1 314670 -4447 5' 78.1641 8.59132 0.949194 3.33636 78.1641 8.59132 0.949194 3.33636 0 Cryptic Acceptor Strongly Activated 73065643 4.78732 0.310414 71.7748 5.61931 0.454023 71.7748 rs774860836 yes no Frequency 1 C 0.000000 0 0.005872 0.013945 0.012841 0.003459 0.009341 0.005145 0.003854 0.000820 0.006740 0.013945 488 94 104 10 52 45 167 5 11 83113 6741 8099 2891 5567 8747 43335 6101 1632 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 488 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 0 Exomes+Genomes transversion G C G>C 0.000 -1.328 224 PASS . . . . . . . . . . . . . . . . 0.23076923 . . @ 6 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 26.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R2309P|XIST|Non-coding_transcript|NON_CODING|NR_001564|NR_001564.ex.1) . . . . . . . . . . . . . . . . 1.287e-03 . . . 0 0.0004 0.0006 0.0006 0 0.0004 0 0.0007 0 0.0004 0.0006 0.0008 0 0.0004 0 0.0007 . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . . . . ENSG00000229807 XIST XIST . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs774860836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0151 0.0059 0.0130 0.0035 0.0098 0.0005 0.0038 0.0070 0.0051 0.0017 0.0035 0 0 0 0.0087 0.0047 0 . . . . . . . . . . . 1.0E-224 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,0,0 +rs138551324 X 78616923 C T - ITM2A 6173 Integral membrane protein 2A NM_004867.4 -1 1834 792 NP_004858.1 O43736 substitution synonymous exon GRCh37 78616923 78616923 ChrX(GRCh37):g.78616923C>T 606 606 NM_004867.4:c.606G>A p.Val202= p.Val202Val 5 300222 54 3' 86.6123 8.97209 0.98506 1.66467 86.6123 8.97209 0.98506 1.21624 0 BRICHOS domain rs138551324 yes no Frequency/1000G 2 C 0.000000 0 0.003974 0.000000 0.002800 0.000000 0.014400 0.003800 0.006587 0.001265 0.004711 0.012202 0.000000 0.004386 0.009855 0.004040 0.004850 0.012202 1314 23 127 91 0 83 890 77 23 199496 18185 26961 7458 13862 18922 90305 19061 4742 0.000030 0.000000 0.000000 0.000000 0.000000 0.000000 0.000022 0.000105 0.000422 3 0 0 0 0 0 1 1 1 817 0 0 0 0 0 0 0 0 491 5 24 38 0 51 334 32 7 PASS 0 Exomes+Genomes 6652 3830 10482 74 5 79 0.0110021 0.00130378 0.00748035 0.0110021 0.00130378 0.00748035 76 transition G A G>A 0.764 -0.844 V Val GTG 0.468 V Val GTA 0.114 202 255 PASS . 0.01 0.01 . 0.01 . 0.004 0.0029 . 0.011 0.002 . . . . . 0.60240966 . . @ 50 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 83.0 . . . 0.0013 0.0075 0.011 0.0013 0.0075 0.011 . . . . . . . . . . 6.646e-03 . . . 0.0017 0.0065 0.0055 0 0.0047 0.0100 0.0042 0.0047 0.0018 0.0064 0.0054 0 0.0042 0.0092 0.0022 0.0047 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0040 . . . 0.31 0.22 182 ENSG00000078596 ITM2A ITM2A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138551324 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv519126 0.007480 . . . . . 0.0011 0.0066 0.0047 0.0121 0 0.0040 0.0099 0.0035 0.0044 0.0015 0.0063 0.0032 0.0159 0 0.0042 0.0097 0.0125 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs138551324 rs138551324 1 1538 10 1/0 0,255,255 +rs372285686 X 84301476 G T - APOOL 24009 Apolipoprotein O-like NM_198450.5 1 6467 807 NP_940852.3 Q6UXV4 substitution missense exon GRCh37 84301476 84301476 ChrX(GRCh37):g.84301476G>T 40 40 NM_198450.5:c.40G>T p.Ala14Ser p.Ala14Ser 2 300955 25 3' 81.6795 7.70911 0.917306 V.31 81.6795 7.70911 0.917306 4.54414 0 rs372285686 yes no Frequency 1 G 0.000000 0 0.001248 0.000000 0.000039 0.000000 0.000000 0.000114 0.000382 0.010199 0.002799 0.010199 243 0 1 0 0 2 34 193 13 194746 17990 25788 7246 13526 17598 89029 18924 4645 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 169 0 0 0 0 0 0 0 0 74 0 1 0 0 2 9 58 4 PASS 0 Exomes+Genomes 6386 3152 9538 1 0 1 0.000156568 0 0.000104833 0.000156568 0 0.000104833 74 transversion G T G>T 0.008 -0.360 A Ala GCA 0.226 S Ser TCA 0.148 14 12 9 Zebrafish 1 1 2 0 I.42 8.I 9.II 31 32 99 C0 215.83 0.00 Tolerated 0.22 III.32 255 PASS . . . . . . . . . . . ENSG00000155008:ENST00000373173:exon2:c.G40T:p.A14S APOOL:uc004eem.3:exon2:c.G40T:p.A14S APOOL:NM_198450:exon2:c.G40T:p.A14S . . 0.5769231 . . @ 30 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.104 . @ . . . . . 1 0.322 . . 52.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A14S|APOOL|mRNA|CODING|NM_198450|NM_198450.ex.2) . 0.0001 0.0002 . 0.0001 0.0002 . . . . . . . . . . 8.572e-04 . . . 0 0.0004 0.0001 0 0.0065 0.0002 0 0.0002 0 0.0008 0.0001 0 0.0072 0.0006 0 0.0002 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.092 @ . . . 0.46 0.29 182 ENSG00000155008 APOOL APOOL . . . 0.700 0.227 . . . . . . . Likely_benign . 0 . 0.223 . . . . T 0.025 0.002 . . 37 . 0.408 . . 0.357 . . . 0.540 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.225 . . 0 0 0 0 0 0 . 0.174 . . 0.133 . . . . . . 0 0.259 . . . . . 0.390 . 0.227 . HET 0.18 rs372285686 . . . . . . . . . . . . IX.33 0.0 . III.97 -1.14 . 0.120000 Q6UXV4 . . . 0.000105 . 0.077 . . . 0 0.0012 3.97e-05 0 0 0.0106 0.0003 0.0015 0.0001 0 0.0018 0 0 0 0.0078 0.0011 0.0096 . . . . -0.416 -0.416000 . . 0.120000 . . 1.0E-255 0.012 0.185 . 0.562 0.993 . 0.075 . 0.090 -0.416 0.917 0.0002 . . rs372285686 rs372285686 1 1538 10 1/0 0,255,255 +. X 99657608 T G - PCDH19 14270 Protocadherin 19 NM_001184880.1 -1 9756 3447 NP_001171809.1 Q8TAB3 substitution missense exon GRCh37 99657608 99657608 ChrX(GRCh37):g.99657608T>G 2530 2530 NM_001184880.1:c.2530A>C p.Ser844Arg p.Ser844Arg 3 300460 -87 5' 92.583 10.0326 0.995608 7.49577 92.583 10.0326 0.995608 7.49577 0 transversion A C A>C 0.992 3.595 S Ser AGT 0.149 R Arg CGT 0.082 844 12 6 Cow -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 215.83 67.21 Deleterious 0.05 IV.32 bad 3.256E-6 0.0272 255 PASS . . . . . . . . . . . . . . . . 0.49112427 . . @ 83 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.257 . @ . . . . . 1 0.285 . . 169.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.524 . . exonic exonic exonic . . 0.530 @ . . . . . . ENSG00000165194 PCDH19 PCDH19 . . . 1.000 0.747 . . . . . . . Uncertain_significance . 0 . 0.537 . . . . T 0.309 0.012 . . 37 . 0.268 . . 0.100 . . . 0.065 0.265 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.245 . . 0 0 0 0 0 0 . 0.236 . . 0.181 . . . . . . 0 0.247 . . . . . 0.061 . 0.317 . HET 0.16 . . . . . . . . . . . . . 3.166 . . V.57 IV.44 . 0.540000 . . . Name\x3desv2752340 . . 0.503 . . IV.44 . . . . . . . . . . . . . . . . . . . . . 1.864 1.864000 . . 0.540000 . . 1.0E-255 0.621 0.277 . 0.364 0.276 . 0.376 . 0.623 1.864 0.079 . . . . . 1 1538 10 1/0 0,234,250 +rs148091932 X 100086553 G A - CSTF2 2484 Cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa NM_001306206.1 1 2658 1794 NP_001293135.1 substitution synonymous exon GRCh37 100086553 100086553 ChrX(GRCh37):g.100086553G>A 999 999 NM_001306206.1:c.999G>A p.Ala333= p.Ala333Ala 10 300907 50 3' 85.7233 8.83723 0.928455 5.96746 85.7233 8.83723 0.928455 5.25185 0 rs148091932 yes no Frequency/1000G 2 G 0.000000 0 0.000265 0.000000 0.000000 0.000000 0.001300 0.000000 0.000617 0.000110 0.000037 0.000000 0.000072 0.000106 0.001272 0.000000 0.000420 0.001272 123 2 1 0 1 2 115 0 2 199501 18163 26978 7420 13836 18817 90436 19091 4760 0.000010 0.000000 0.000000 0.000000 0.000000 0.000000 0.000022 0.000000 0.000000 1 0 0 0 0 0 1 0 0 72 0 0 0 0 0 0 0 0 49 1 1 0 0 1 45 0 1 PASS 0 Exomes+Genomes 6724 3835 10559 4 0 4 0.00059453 0 0.00037868 0.00059453 0 0.00037868 117 transition G A G>A 0.646 0.448 A Ala GCG 0.107 A Ala GCA 0.226 333 255 PASS . 0.0006 . . 0.0017 . 0.0003 . . 0.001 . . . . . . 0.52100843 . . @ 62 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 119.0 . . . . 0.0004 0.0006 . 0.0004 0.0006 . . . . . . . . . . 6.867e-04 . . . 0.0001 0.0005 0.0001 0 0 0.0011 0 9.895e-05 0.0001 0.0007 0.0001 0 0 0.0012 0 9.966e-05 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0003 . . . 0.68 0.44 182 ENSG00000101811 CSTF2 CSTF2 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs148091932 . . . . . . . . . . . . . . . . . . . . . . . 0.000379 . . . . II.75 8.181e-05 0.0006 3.794e-05 0 7.815e-05 0 0.0014 0.0002 0.0001 0.0002 0.0004 0 0 0 0 0.0007 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0017 . . rs148091932 rs148091932 1 1538 10 1/0 0,254,255 +. (chrX:101478366 C/T) X 101478366 C T Not on a known gene +. X 101717926 G A - TCP11X2 48335 T-complex 11 family, X-linked 2 NM_001277423.1 -1 1747 1224 NP_001264352.1 Q5H9J9 substitution missense exon GRCh37 101717926 101717926 ChrX(GRCh37):g.101717926G>A 667 667 NM_001277423.1:c.667C>T p.Arg223Trp p.Arg223Trp 8 22 3' 78.0939 7.90862 0.79609 7.97634 78.0939 7.90862 0.79609 7.54666 0 Cryptic Acceptor Strongly Activated 101717917 1.0549 0.006541 74.8991 1.83058 0.012622 77.6109 0.000076 0.000000 0.000000 0.000000 0.000000 0.000000 0.000160 0.000000 0.000000 0.000160 1 0 0 0 0 0 1 0 0 13205 2200 1837 517 538 1264 6246 188 415 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 57 Exomes transition C T C>T 0.677 3.111 R Arg CGG 0.207 W Trp TGG 1.000 223 12 11 Baker's yeast -2 -3 -5 0.65 0.13 10.V 5.IV 124 170 101 C35 26.00 95.78 Deleterious 0 II.78 234 PASS . . . . . . . . . . . ENSG00000215029:ENST00000453326:exon8:c.C667T:p.R223W . TCP11X2:NM_001277423:exon8:c.C667T:p.R223W . . 0.2544643 . . @ 57 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.747 . @ . . . . . 1 0.859 . . 224.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R223W|TCP11X2|mRNA|CODING|NM_001277423.2|NM_001277423.2.ex.8) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.646 . . exonic exonic exonic . . 0.289 @ . . . 0.75 0.76 182 ENSG00000215029 TCP11X2 TCP11X2 . . . 0.003 0.097 . . . . . . . Uncertain_significance . 0 . 0.523 . . . . D 0.776 0.102 . . 37 . 0.658 . . 0.766 . . . 0.861 0.810 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.932 . . 0 0 0 0 0 0 . . . . . . . . . . . 0 0.912 . . . . . 0.420 . 0.790 . HET 1 . . . . . . . . . . . . . 10.1825 . ENST00000453326 II.46 II.46 . 0.000000 . . . . . . 0.410 . . II.46 0 7.573e-05 0 0 0 0 0.0002 0 0 . . . . . . . . . . . . 1.505 1.505000 . . 0.000000 . . 1.0E-234 0.992 0.373 . 0.100 0.259 . 0.459 . 0.318 1.505 0.897 . rs4898344 rs4898344 rs4898344 rs4898344 1 1538 10 1/0 0,206,255 +rs201052141 X 101718273 C T - TCP11X2 48335 T-complex 11 family, X-linked 2 NM_001277423.1 -1 1747 1224 NP_001264352.1 Q5H9J9 substitution intron GRCh37 101718273 101718273 ChrX(GRCh37):g.101718273C>T 425-7 425-7 NM_001277423.1:c.425-7G>A p.? p.? 7 6 -7 3' 81.8211 9.832 0.995863 7.32518 81.8211 9.82853 0.996031 7.70646 -6.13523e-05 Cryptic Donor Strongly Activated 101718271 4.05044 0.07174 65.0426 5.30375 0.28696 67.7906 rs201052141 no no 0 0.000000 0 0.005423 0.000000 0.007212 0.000000 0.000000 0.000000 0.013793 0.000000 0.000000 0.013793 5 0 3 0 0 0 2 0 0 922 26 416 6 17 229 145 8 75 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 195 Exomes transition G A G>A 0.000 -0.521 220 PASS . . . . . . . . . . . . . . . . 0.21374045 . . @ 28 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . INTRON(MODIFIER||||TCP11X2|mRNA|CODING|NM_001277423.2|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.67 0.27 182 . . TCP11X2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs201052141 . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . 0 0.0054 0.0072 0 0 0 0.0138 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-220 . . . . . . . . . . . . rs4898343 rs4898343 rs4898343 rs201052141 1 1538 10 1/0 0,225,255 +rs145606134 X 102192422 A G - RAB40AL 25410 RAB40A, member RAS oncogene family-like NM_001031834.1 1 1029 837 NP_001027004.1 P0C0E4 substitution missense exon GRCh37 102192422 102192422 ChrX(GRCh37):g.102192422A>G 176 176 NM_001031834.1:c.176A>G p.Asp59Gly p.Asp59Gly 1 300405 Small GTPase superfamily Mitochondrial Rho-like Small GTPase superfamily, ARF/SAR type Small GTP-binding protein domain rs145606134 yes no Frequency/1000G 2 uncertain_significance 0.000000 0 0.001589 0.000000 0.001400 0.000000 0.003900 0.003800 0.005122 0.000443 0.002427 0.035313 0.000000 0.004338 0.006031 0.001415 0.006503 0.035313 1025 8 66 264 0 83 546 27 31 200113 18048 27190 7476 13887 19135 90531 19079 4767 0.000090 0.000000 0.000074 0.001338 0.000000 0.000105 0.000044 0.000000 0.000000 9 0 1 5 0 1 2 0 0 594 0 0 0 0 0 0 0 0 413 4 19 94 0 57 221 9 9 PASS 0 Exomes+Genomes 6726 3835 10561 2 0 2 0.000297265 0 0.00018934 0.000297265 0 0.00018934 95 RCV000030692.3 germline literature only VUS 0 Mental retardation, X-linked, syndromic, martin-probst type COSM3694248|COSM3694249 Large intestine|Large intestine 0.000448|0.000448 2231|2231 transition A G A>G 1.000 1.013 D Asp GAC 0.539 G Gly GGC 0.342 59 12 9 Frog -1 -1 -3 I.38 0.74 13 9 54 3 94 C0 236.78 0.00 Tolerated 0.07 III.59 good 4.898E-2 0.0782 255 PASS . . . . . . 0.0016 0.0029 . 0.003 0.001 ENSG00000102128:ENST00000218249:exon1:c.A176G:p.D59G RAB40AL:uc004ejs.3:exon1:c.A176G:p.D59G RAB40AL:NM_001031834:exon1:c.A176G:p.D59G . . 0.47379455 . . germline 226 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.701 . Uncertain//\@significance Uncertain_significance RCV000030692.3 . Gene:MedGen:OMIM:Orphanet 574047:C1845285:300519:ORPHA85321 1 0.808 . . 477.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D59G|RAB40AL|mRNA|CODING|NM_001031834|NM_001031834.ex.1) . 0.0002 0.0003 . 0.0002 0.0003 . . . . . . . . . . 4.783e-03 . . . 0.0001 0.0050 0.0015 0 0.0017 0.0089 0.0082 0.0037 0.0001 0.0046 0.0015 0 0.0022 0.0074 0.0108 0.0037 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.807 . . exonic exonic exonic . . 0.176 0.0016 . . . 0.29 0.21 182 ENSG00000102128 RAB40AL RAB40AL . . . 0.021 0.133 . . . . . . . Likely_benign . 0 . 0.477 . . . . T 0.242 0.009 . . 37 . 0.822 . . 0.796 . . . 0.299 0.486 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.893 . . 0 0 0 0 1 0 . 0.899 . . 0.971 . . . . . . 0 0.912 . . . . . 0.165 . 0.404 . HET 0.03 rs145606134 . . CLINSIG\x3dpathogenic\x3bCLNDBN\x3dMartin-Probst_deafness-mental_retardation_syndrome\x3bCLNACC\x3dRCV000030692.1 CLINSIG\x3dpathogenic\x3bCLNDBN\x3dMartin-Probst_deafness-mental_retardation_syndrome\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000030692.1\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dC1845285:300519:ORPHA85321 CLINSIG\x3dunknown\x3bCLNDBN\x3dMartin-Probst_deafness-mental_retardation_syndrome\x3bCLNREVSTAT\x3dsingle\x3bCLNACC\x3dRCV000030692.2\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dC1845285:300519:ORPHA85321 CLINSIG\x3dunknown\x3bCLNDBN\x3dMartin-Probst_deafness-mental_retardation_syndrome\x3bCLNREVSTAT\x3dno_assertion_criteria_provided\x3bCLNACC\x3dRCV000030692.2\x3bCLNDSDB\x3dMedGen:OMIM:Orphanet\x3bCLNDSDBID\x3dC1845285:300519:ORPHA85321 . . . . . . V.61 0.0 ENST00000218249 0.779 0.779 . 0.000000 P0C0E4 . . . 0.000189 . 0.334 . . . 0.0003 0.0053 0.0024 0.0347 0 0.0015 0.0062 0.0069 0.0043 0.0007 0.0035 0.0049 0.0582 0 0.0008 0.0049 0.0042 . . . . 0.560 0.560000 . . 0.000000 . . 1.0E-255 1.000 0.715 . 0.483 0.153 . 0.499 . 0.286 0.560 0.679 0.0003 . . rs145606134 . 1 1538 10 1/0 0,191,213 +rs138133927 X 102192423 C A - RAB40AL 25410 RAB40A, member RAS oncogene family-like NM_001031834.1 1 1029 837 NP_001027004.1 P0C0E4 substitution missense exon GRCh37 102192423 102192423 ChrX(GRCh37):g.102192423C>A 177 177 NM_001031834.1:c.177C>A p.Asp59Glu p.Asp59Glu 1 300405 Small GTPase superfamily Mitochondrial Rho-like Small GTPase superfamily, ARF/SAR type Small GTP-binding protein domain rs138133927 yes no Frequency/1000G 2 0.000000 0 0.001589 0.000000 0.001400 0.000000 0.003900 0.003800 0.005122 0.000443 0.002428 0.035332 0.000000 0.004339 0.006030 0.001415 0.006503 0.035332 1025 8 66 264 0 83 546 27 31 200110 18047 27187 7472 13885 19129 90543 19080 4767 0.000090 0.000000 0.000074 0.001338 0.000000 0.000105 0.000044 0.000000 0.000000 9 0 1 5 0 1 2 0 0 594 0 0 0 0 0 0 0 0 413 4 19 94 0 57 221 9 9 PASS 0 Exomes+Genomes 6727 3835 10562 1 0 1 0.000148633 0 9.46701e-05 0.000148633 0 9.46701e-05 95 COSM3694251|COSM3694250 Large intestine|Large intestine 0.000448|0.000448 2231|2231 transversion C A C>A 1.000 0.770 D Asp GAC 0.539 E Glu GAA 0.417 59 12 9 Frog 2 2 2 I.38 0.92 13 12.III 54 83 45 C0 236.78 0.00 Tolerated 0.89 III.59 good 5.549E-1 0.0782 255 PASS . . . . . . 0.0016 0.0029 . 0.003 0.001 ENSG00000102128:ENST00000218249:exon1:c.C177A:p.D59E RAB40AL:uc004ejs.3:exon1:c.C177A:p.D59E RAB40AL:NM_001031834:exon1:c.C177A:p.D59E . . 0.47095436 . . @ 227 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.386 . @ . . . . . 1 0.650 . . 482.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D59E|RAB40AL|mRNA|CODING|NM_001031834|NM_001031834.ex.1) . 0.0001 0.0001 . 0.0001 0.0001 . . . . . . . . . . 4.775e-03 . . . 0.0001 0.0050 0.0015 0 0.0017 0.0089 0.0082 0.0037 0.0001 0.0046 0.0015 0 0.0022 0.0074 0.0108 0.0037 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.810 . . exonic exonic exonic . . 0.118 0.0016 . . . 0.28 0.29 182 ENSG00000102128 RAB40AL RAB40AL . . . 0.014 0.126 . . . . . . . Likely_benign . 0 . 0.477 . . . . T 0.180 0.007 . . 37 . 0.773 . . 0.715 . . . 0.197 0.429 . . . . 1 0 0 0 0 0 0 0 0 0 0 0.558 . . 0 0 0 0 0 0 . 0.899 . . 0.971 . . . . . . 0 0.214 . . . . . 0.139 . 0.129 . HET 0.25 rs138133927 . . . . . . . . . . . . 5.0905 0.0 ENST00000218249 0.779 -0.373 . 0.130000 P0C0E4 . . . 0.000095 . 0.286 . . . 0.0003 0.0053 0.0024 0.0347 0 0.0015 0.0062 0.0069 0.0043 0.0007 0.0035 0.0049 0.0585 0 0.0008 0.0049 0.0042 . . . . -0.179 -0.179000 . . 0.130000 . . 1.0E-255 0.974 0.344 . 0.480 0.160 . 0.086 . 0.077 -0.179 -0.226 0.0001 . . rs138133927 rs138133927 1 1538 10 1/0 0,191,213 +rs209372 (chrX:105153001 A/G) X 105153001 A G Transcript NM_198465.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (G) same as transcript nucleotide (Assembly: GRCh37) NRK +. X 108297675 G GC - MIR6087 50045 MicroRNA 6087 NR_106735.1 1 49 0 duplication upstream GRCh37 108297681 108297682 ChrX(GRCh37):g.108297681dup -91 -91 NR_106735.1:n.-91dup p.? p.? 1 rs79152386 no no 0 0.000000 0 0.000048 0.000179 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000179 1 1 0 0 0 0 0 0 0 20801 5584 608 178 990 0 10136 2602 703 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 41 Genomes C 255 Pass . . . . . . . . . . . . . . . . 0.9578313 . . . 477 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 498 . . UPSTREAM(MODIFIER||||MIR6087|Non-coding_transcript|NON_CODING|NR_106735|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . . . . . . . . ENSG00000226958 . MIR6087 . dist\x3d318068\x3bdist\x3d318460 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs139363226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 4.807e-05 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . rs79152386 rs79152386 1 1538 255 1.I 0,0,255 +rs7881922 X 108297699 T C - MIR6087 50045 MicroRNA 6087 NR_106735.1 1 49 0 substitution upstream GRCh37 108297699 108297699 ChrX(GRCh37):g.108297699T>C -73 -73 NR_106735.1:n.-73T>C p.? p.? 1 rs7881922 no no 0 0.000000 0 0.000098 0.000180 0.000000 0.000000 0.000000 0.000000 0.000101 0.000000 0.000000 0.000180 2 1 0 0 0 0 1 0 0 20384 5545 596 160 975 0 9872 2559 677 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 43 Genomes transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.9878788 . . @ 489 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 495.0 . . UPSTREAM(MODIFIER||||MIR6087|Non-coding_transcript|NON_CODING|NR_106735|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.4 0.11 182 ENSG00000226958 . MIR6087 . dist\x3d318092\x3bdist\x3d318436 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs7881922 0.739 0.746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 9.812e-05 0 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.74 rs7881922 rs7881922 rs7881922 rs7881922 1 1538 255 1.I 0,0,255 +rs10871901 X 108297702 A G - MIR6087 50045 MicroRNA 6087 NR_106735.1 1 49 0 substitution upstream GRCh37 108297702 108297702 ChrX(GRCh37):g.108297702A>G -70 -70 NR_106735.1:n.-70A>G p.? p.? 1 rs10871901 yes no Frequency/1000G 2 0.000000 0 0.000265 0.001000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20589 5601 597 161 995 0 9999 2550 686 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition A G A>G 0.000 -14.080 255 PASS . . . . . 0.0008 0.0003 . . . . . . . . . 0.9878296 . . @ 487 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 493.0 . . UPSTREAM(MODIFIER||||MIR6087|Non-coding_transcript|NON_CODING|NR_106735|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . 0.0003 . . . 0.42 0.11 182 ENSG00000226958 . MIR6087 . dist\x3d318095\x3bdist\x3d318433 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs10871901 0.739 0.746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.74 rs10871901 rs10871901 rs10871901 rs10871901 1 1538 255 1.I 0,0,255 +rs10453785 X 108297713 T C - MIR6087 50045 MicroRNA 6087 NR_106735.1 1 49 0 substitution upstream GRCh37 108297713 108297713 ChrX(GRCh37):g.108297713T>C -59 -59 NR_106735.1:n.-59T>C p.? p.? 1 rs10453785 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 20649 5602 600 165 996 0 10030 2560 696 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 42 Genomes transition T C T>C 0.000 -14.080 255 PASS . . . . . . . . . . . . . . . . 0.9873684 . . @ 469 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 475.0 . . UPSTREAM(MODIFIER||||MIR6087|Non-coding_transcript|NON_CODING|NR_106735|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic intergenic upstream . . . @ . . . 0.41 0.1 182 ENSG00000226958 . MIR6087 . dist\x3d318106\x3bdist\x3d318422 . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs10453785 0.739 0.746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.74 rs10453785 rs10453785 rs10453785 rs10453785 1 1538 255 1.I 0,0,255 +rs181113380 X 119425043 C T - TMEM255A 26086 Transmembrane protein 255A NM_017938.3 -1 3497 1050 NP_060408.3 Q5JRV8 substitution intron GRCh37 119425043 119425043 ChrX(GRCh37):g.119425043C>T 354+63 354+63 NM_017938.3:c.354+63G>A p.? p.? 4 4 63 5' 74.2049 7.35335 0.749548 1.31071 74.2049 7.35335 0.749548 1.28647 0 Cryptic Donor Strongly Activated 119425046 0.361867 0.006793 66.7637 3.90972 0.271328 71.1261 rs181113380 yes no Frequency/1000G 2 C 0.000000 0 0.001324 0.000000 0.000000 0.000000 0.002600 0.005700 0.000877 0.000341 0.001613 0.000000 0.000000 0.000000 0.001135 0.000376 0.004144 0.001613 19 2 1 0 0 0 12 1 3 21672 5872 620 189 1030 0 10576 2661 724 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 11 0 0 0 0 0 0 0 0 8 0 0 0 0 0 6 1 1 PASS 45 Genomes transition G A G>A 0.008 0.448 255 PASS 0.0027 0.0018 0.0036 . 0.0017 . 0.0013 0.0043 . 0.002 . . . . . . 0.5049505 . . @ 51 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 101.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0013 . . . 0.47 0.32 182 ENSG00000125355 TMEM255A TMEM255A . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3ddgv2470e1 . . . . . II.42 . . . . . . . . . 0.0003 0.0009 0.0016 0 0 0.0004 0.0011 0.0041 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0036 . . rs181113380 rs181113380 1 1538 10 1/0 0,255,255 +. X 119695342 A C - CUL4B 2555 Cullin 4B NM_003588.3 -1 5351 2742 NP_003579.3 Q13620 substitution intron GRCh37 119695342 119695342 ChrX(GRCh37):g.119695342A>C 68-862 68-862 NM_003588.3:c.68-862T>G p.? p.? 3 2 300304 -862 3' 85.18 IX.37 0.836758 8.14588 85.18 IX.37 0.836758 8.14588 0 New Acceptor Site 119695341 7.13211 0.326185 69.8532 rs1031454878 no no 0 A 0.000000 0 0.002722 0.000224 0.000000 0.000000 0.000000 0.000000 0.003096 0.006214 0.008375 0.006214 46 1 0 0 0 0 25 15 5 16898 4455 510 132 714 0 8076 2414 597 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 40 0 0 0 0 0 0 0 0 6 0 0 0 0 0 4 2 0 PASS 38 Genomes transversion T G T>G 0.000 0.044 255 PASS . . . . . . . . . . . . . . . . 0.46666667 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 15.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000158290 CUL4B CUL4B . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0027 0 0 0 0.0062 0.0031 0.0084 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A1 33282 Cancer/testis antigen family 47, member A1 NM_001080146.1 -1 1294 867 NP_001073615.1 Q5JQC4 substitution intron GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 742+978 742+978 NM_001080146.1:c.742+978C>T p.? p.? 1 1 300780 978 5' 85.7138 9.16003 0.99132 X.13 85.7138 9.16003 0.99132 X.13 0 transition C T C>T 0.004 -0.521 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A10 33291 Cancer/testis antigen family 47, member A10 NM_001080137.1 -1 1294 867 NP_001073606.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080137.1:c.833C>T p.Ala278Val p.Ala278Val 2 300789 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A11 27397 Cancer/testis antigen family 47, member A11 NM_173571.2 -1 1294 867 NP_775842.2 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_173571.2:c.833C>T p.Ala278Val p.Ala278Val 2 300592 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A12 33292 Cancer/testis antigen family 47, member A12 NM_001242922.1 -1 1294 867 NP_001229851.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001242922.1:c.833C>T p.Ala278Val p.Ala278Val 2 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A2 33283 Cancer/testis antigen family 47, member A2 NM_001080145.1 -1 1294 867 NP_001073614.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080145.1:c.833C>T p.Ala278Val p.Ala278Val 2 300781 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A3 33284 Cancer/testis antigen family 47, member A3 NM_001080144.1 -1 1294 867 NP_001073613.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080144.1:c.833C>T p.Ala278Val p.Ala278Val 2 300782 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A4 33285 Cancer/testis antigen family 47, member A4 NM_001080143.1 -1 1294 867 NP_001073612.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080143.1:c.833C>T p.Ala278Val p.Ala278Val 2 300783 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A5 33286 Cancer/testis antigen family 47, member A5 NM_001080142.1 -1 1294 867 NP_001073611.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080142.1:c.833C>T p.Ala278Val p.Ala278Val 2 300784 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A8 33289 Cancer/testis antigen family 47, member A8 NM_001080139.1 -1 1294 867 NP_001073608.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080139.1:c.833C>T p.Ala278Val p.Ala278Val 2 300787 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. X 120064177 G A - CT47A9 33290 Cancer/testis antigen family 47, member A9 NM_001080138.1 -1 1294 867 NP_001073607.1 Q5JQC4 substitution missense exon GRCh37 120064177 120064177 ChrX(GRCh37):g.120064177G>A 833 833 NM_001080138.1:c.833C>T p.Ala278Val p.Ala278Val 2 300788 -66 5' 77.1304 7.33051 0.736575 0.910767 77.1304 7.33051 0.736575 0.501849 0 transition C T C>T 0.004 -0.521 A Ala GCG 0.107 V Val GTG 0.468 278 13 4 Macaque 0 0 -1 0 0 8.I 5.IX 31 84 64 C0 353.86 0.00 Tolerated 0.28 II.95 good 5,26E-01 5 202 PASS . . . . . . . . . . . ENSG00000226685:ENST00000416816:exon2:c.C833T:p.A278V CT47A10:uc011mud.2:exon2:c.C833T:p.A278V . . . 0.16666667 . . @ 6 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.180 . @ . . . . . 1 0.231 . . 36.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . 0.079 @ . . . . . . ENSG00000226685 CT47A10 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . 0.019 . . . . D 0.906 0.292 . . 37 . 0.185 . . 0.072 . . . 0.145 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.401 . . 0 0 0 0 0 0 . . . . . . . . . . . 12 0.087 . . . . . 0.103 . 0.153 . HET 0.56 . . . . . . . . . . . . . 4.292 . ENST00000416816 I.27 -1.6 . 0.530000 . . . . . . 0.007 . . . . . . . . . . . . . . . . . . . . . . . . -0.451 -0.451000 . . 0.530000 . . 1.0E-202 0.000 0.063 . 0.083 0.001 . 0.056 . 0.036 -0.451 -0.857 . . . . . 1 1538 10 1/0 0,255,255 +. (chrX:120075004 G/C) X 120075004 G C Not on a known gene +. (chrX:120084725 G/C) X 120084725 G C Not on a known gene +. (chrX:120118769 G/C) X 120118769 G C Not on a known gene +rs138530347 X 129159287 C T - BCORL1 25657 BCL6 corepressor-like 1 NM_001184772.2 1 7349 5358 NP_001171701.1 substitution synonymous exon GRCh37 129159287 129159287 ChrX(GRCh37):g.129159287C>T 4011 4011 NM_001184772.2:c.4011C>T p.Ser1337= p.Ser1337Ser 6 300688 -68 5' 94.9812 11.083 0.996177 XII.91 94.9812 11.083 0.996177 XII.21 0 rs138530347 yes no Frequency/1000G 2 C 0.000000 0 0.000795 0.000000 0.001400 0.000000 0.001300 0.001900 0.002746 0.000504 0.001000 0.004245 0.000000 0.000635 0.004855 0.000831 0.002642 0.004855 493 9 24 23 0 9 402 15 11 179524 17840 23999 5418 13081 14168 82795 18059 4164 0.000011 0.000000 0.000000 0.000000 0.000000 0.000000 0.000024 0.000000 0.000000 1 0 0 0 0 0 1 0 0 349 0 0 0 0 0 0 0 0 142 3 4 5 0 6 119 2 3 PASS 0 Exomes+Genomes 6703 3831 10534 24 4 28 0.00356771 0.00104302 0.00265101 0.00356771 0.00104302 0.00265101 71 transition C T C>T 1.000 1.497 S Ser AGC 0.243 S Ser AGT 0.149 1337 255 PASS . 0.0006 . . 0.0017 . 0.0008 0.0014 . 0.001 0.001 . . . . . 0.62 . . @ 31 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 50.0 . . . 0.001 0.0027 0.0036 0.001 0.0027 0.0036 . . . . . . . . . . 2.594e-03 . . . 0.0005 0.0024 0.0010 0 0 0.0044 0.0023 0.0005 0.0004 0.0027 0.0009 0 0.0004 0.0047 0.0024 0.0005 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0008 . . . 0.6 0.34 182 ENSG00000085185 BCORL1 BCORL1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs138530347 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv528290 0.002651 . . . . IV.75 0.0005 0.0028 0.0010 0.0044 0 0.0007 0.0049 0.0026 0.0006 0.0005 0.0026 0 0 0 0.0015 0.0046 0.0028 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0036 . . rs138530347 rs138530347 1 1538 10 1/0 0,255,255 +. X 134872198 A C - CT45A2 28400 Cancer/testis antigen family 45, member A2 NM_152582.6 1 1010 570 NP_689795.4 Q5DJT8 substitution synonymous exon GRCh37 134872198 134872198 ChrX(GRCh37):g.134872198A>C 312 312 NM_152582.6:c.312A>C p.Gly104= p.Gly104Gly 3 300793 -107 5' 87.5573 9.72159 0.986187 2.96181 87.5573 9.72159 0.986187 2.96181 0 transversion A C A>C 0.000 0.044 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242185 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134872198 A C - CT45A5 33270 Cancer/testis antigen family 45, member A5 NM_001007551.4 1 1321 570 NP_001007552.2 Q8NHU0 substitution synonymous exon GRCh37 134872198 134872198 ChrX(GRCh37):g.134872198A>C 312 312 NM_001007551.4:c.312A>C p.Gly104= p.Gly104Gly 3 300796 -107 5' 87.5573 9.72159 0.986187 II.87 87.5573 9.72159 0.986187 II.87 0 transversion A C A>C 0.000 0.044 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242185 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134872198 A C - CT45A8 51261 Cancer/testis antigen family 45, member A8 NM_001291535.1 1 1010 570 NP_001278464.1 P0DMV1 substitution synonymous exon GRCh37 134872198 134872198 ChrX(GRCh37):g.134872198A>C 312 312 NM_001291535.1:c.312A>C p.Gly104= p.Gly104Gly 3 -107 5' 87.5573 9.72159 0.986187 2.96181 87.5573 9.72159 0.986187 2.96181 0 transversion A C A>C 0.000 0.044 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242185 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134872198 A C - CT45A9 51262 Cancer/testis antigen family 45, member A9 NM_001291540.2 1 1368 570 NP_001278469.1 P0DMV2 substitution synonymous exon GRCh37 134872198 134872198 ChrX(GRCh37):g.134872198A>C 312 312 NM_001291540.2:c.312A>C p.Gly104= p.Gly104Gly 3 -107 5' 87.5573 9.72159 0.986187 2.96181 87.5573 9.72159 0.986187 2.96181 0 transversion A C A>C 0.000 0.044 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . . . . . 0.22222222 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000242185 . . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134930750 T G - CT45A4 33269 Cancer/testis antigen family 45, member A4 NM_001017436.1 -1 1008 570 NP_001017436.1 Q8N7B7 substitution synonymous exon GRCh37 134930750 134930750 ChrX(GRCh37):g.134930750T>G 312 312 NM_001017436.1:c.312A>C p.Gly104= p.Gly104Gly 3 300795 -107 5' 87.5573 9.72159 0.986187 2.26452 87.5573 9.72159 0.986187 2.26452 0 Cupin, RmlC-type transversion A C A>C 0.008 1.497 G Gly GGA 0.246 G Gly GGC 0.342 104 222 PASS . . . . . . . . . . . . CT45A4:uc004ezd.3:exon3:c.A312C:p.G104G CT45A4:NM_001017436:exon3:c.A312C:p.G104G . . 0.22222222 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 54.0 . . SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G104|CT45A4|mRNA|CODING|NM_001017436.2|NM_001017436.2.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000228836 CT45A4 CT45A4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-222 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134965265 T G - CT45A10 51263 Cancer/testis antigen family 45, member A10 NM_001291527.1 -1 1245 570 NP_001278456.1 P0DMU9 substitution upstream GRCh37 134965265 134965265 ChrX(GRCh37):g.134965265T>G -11533 -11533 NM_001291527.1:c.-11533A>C p.? p.? 1 -11527 5' 73.8017 7.93713 0.900637 5.28142 73.8017 7.93713 0.900637 5.28142 0 transversion A C A>C 0.000 0.932 233 PASS . . . . . . . . . . . . CT45A6:uc004ezf.3:exon3:c.A312C:p.G104G CT45A7:NM_001291543:exon3:c.A312C:p.G104G . . 0.25641027 . . @ 10 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 39.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000226907 CT45A6 CT45A7 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 2 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-233 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 134986775 C CTGTG - SAGE1 30369 Sarcoma antigen 1 NM_018666.2 1 3046 2715 NP_061136.2 Q9NXZ1 insertion intron GRCh37 134986775 134986776 ChrX(GRCh37):g.134986775_134986776insTGTG 313+47 313+48 NM_018666.2:c.313+47_313+48insTGTG p.? p.? 4 4 300359 47 5' 73.7673 4.88364 0.330055 0 73.7673 4.88364 0.330055 0 0 rs376845768 no no 0 0.000000 0 TGTG 255 Pass . . . . . . . . . . . . . . . . 0.95 . . . 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 20 . . INTRON(MODIFIER||||SAGE1|mRNA|CODING|NM_018666|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000181433 SAGE1 SAGE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 27 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,130,255 +rs201136844 X 134986776 C T - SAGE1 30369 Sarcoma antigen 1 NM_018666.2 1 3046 2715 NP_061136.2 Q9NXZ1 substitution intron GRCh37 134986776 134986776 ChrX(GRCh37):g.134986776C>T 313+48 313+48 NM_018666.2:c.313+48C>T p.? p.? 4 4 300359 48 5' 73.7673 4.88364 0.330055 0 73.7673 4.88364 0.330055 0 0 rs201136844 no no 0 0.000000 0 0.000048 0.000000 0.000000 0.000000 0.000000 0.000000 0.000099 0.000000 0.000000 0.000099 1 0 0 0 0 0 1 0 0 21012 5782 587 161 1007 0 10124 2647 704 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 PASS 45 Genomes transition C T C>T 0.000 -0.279 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 19.0 . . INTRON(MODIFIER||||SAGE1|mRNA|CODING|NM_018666|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . 0.32 0.17 182 ENSG00000181433 SAGE1 SAGE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 4.759e-05 0 0 0 0 9.878e-05 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs201136844 rs201136844 1 1538 255 1.I 0,0,255 +rs199837546 X 134986781 G C - SAGE1 30369 Sarcoma antigen 1 NM_018666.2 1 3046 2715 NP_061136.2 Q9NXZ1 substitution intron GRCh37 134986781 134986781 ChrX(GRCh37):g.134986781G>C 313+53 313+53 NM_018666.2:c.313+53G>C p.? p.? 4 4 300359 53 5' 73.7673 4.88364 0.330055 0 73.7673 4.88364 0.330055 0 0 rs199837546 yes no Frequency/1000G 2 0.000000 0 0.161589 0.088700 0.140700 0.132200 0.270200 0.213700 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 21053 5789 593 164 1016 0 10147 2642 702 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 45 Genomes transversion G C G>C 0.000 -1.489 111 PASS . . . . . 0.067 0.16 0.16 0.1 0.21 0.1 . . . . . 1.0 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 17.0 . . INTRON(MODIFIER||||SAGE1|mRNA|CODING|NM_018666|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.1616 . . . 0.26 0.13 182 ENSG00000181433 SAGE1 SAGE1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs199837546 rs199837546 1 1538 255 1.I 0,0,255 +rs144800387 X 135474417 C T - ADGRG4 18992 Adhesion G protein-coupled receptor G4 NM_153834.3 1 9931 9243 NP_722576.3 Q8IZF6 substitution synonymous exon GRCh37 135474417 135474417 ChrX(GRCh37):g.135474417C>T 7938 7938 NM_153834.3:c.7938C>T p.Thr2646= p.Thr2646Thr 17 27 3' 90.5855 XI.38 0.977485 VIII.73 90.5855 XI.38 0.977485 8.20312 0 rs144800387 yes no Frequency/1000G 2 C 0.000000 0 0.001589 0.000000 0.000000 0.003900 0.001300 0.003800 0.002611 0.000000 0.000298 0.001970 0.000424 0.000000 0.003323 0.007627 0.002023 0.007627 441 0 6 13 4 0 271 139 8 168910 14949 20147 6598 9432 14040 81564 18225 3955 0.000036 0.000000 0.000000 0.000000 0.000000 0.000000 0.000049 0.000110 0.000000 3 0 0 0 0 0 2 1 0 283 0 0 0 0 0 0 0 0 152 0 2 3 2 0 92 50 3 PASS 0 Exomes+Genomes 6712 3835 10547 16 0 16 0.00237812 0 0.00151472 0.00237812 0 0.00151472 103 transition C T C>T 0.992 1.013 T Thr ACC 0.361 T Thr ACT 0.243 2646 255 PASS . 0.0018 0.0036 0.0047 . . 0.0016 0.0029 0.003 0.001 . . . ADGRG4:NM_153834:exon17:c.C7938T:p.T2646T . . 0.6415094 . . @ 34 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 53.0 . . SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T2646|ADGRG4|mRNA|CODING|NM_153834|NM_153834.ex.17) . 0.0015 0.0024 . 0.0015 0.0024 . . . . . . . . . . 1.887e-03 . . . 0.0001 0.0015 0.0001 0.0009 0.0068 0.0024 0.0022 0 0 0.0019 0.0001 0.0007 0.0060 0.0027 0.0022 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0016 . . . 0.33 0.3 182 ENSG00000156920 GPR112 ADGRG4 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144800387 . . . . . . . . . . . . . . . . . . . . . . . 0.001515 . . . . II.47 0 0.0023 0.0003 0.0020 0.0005 0.0075 0.0028 0.0015 0 0 0.0054 0 0 0 0.0088 0.0079 0.0050 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0047 . . rs144800387 rs144800387 1 1538 10 1/0 0,255,255 +rs139318512 X 139006271 C G - MIR505 32140 MicroRNA 505 NR_030230.1 -1 84 0 substitution downstream GRCh37 139006271 139006271 ChrX(GRCh37):g.139006271C>G *36 *36 NR_030230.1:n.*36G>C p.? p.? 1 rs139318512 yes no Frequency/1000G 2 C 0.000000 0 0.002119 0.000000 0.000000 0.000000 0.009100 0.001900 0.007007 0.000832 0.002654 0.018489 0.000000 0.000578 0.010887 0.008084 0.005876 0.018489 1396 15 72 137 0 11 979 154 28 199228 18027 27133 7410 13878 19041 89925 19049 4765 0.000080 0.000000 0.000000 0.000270 0.000000 0.000000 0.000111 0.000210 0.000000 8 0 0 1 0 0 5 2 0 870 0 0 0 0 0 0 0 0 510 3 16 57 0 7 357 59 11 PASS 0 Exomes+Genomes 5436 2622 8058 62 5 67 0.0112768 0.00190331 0.00824615 0.0112768 0.00190331 0.00824615 108 transversion G C G>C 0.008 2.142 255 PASS . 0.003 0.0036 . 0.01 . 0.0021 0.0014 . 0.007 . . . . . . 0.55 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 40.0 . . DOWNSTREAM(MODIFIER||||MIR505|Non-coding_transcript|NON_CODING|NR_030230|) 0.0019 0.0082 0.011 0.0019 0.0082 0.011 . . . . . . . . . . 7.439e-03 . . . 0.0007 0.0057 0.0028 0 0.0055 0.0106 0.0062 0.0006 0.0005 0.0071 0.0024 0 0.0068 0.0123 0.0086 0.0006 . . . . . . intronic downstream downstream . . . 0.0021 . . . 0.62 0.45 182 ENSG00000101974 MIR505 MIR505 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . rs139318512 . . . . . . . . . . . . . . . . . . . . . . . 0.008246 . . . . III.86 0.0008 0.0072 0.0026 0.0184 0 0.0084 0.0112 0.0057 0.0006 0.0009 0.0056 0.0033 0.0214 0 0.0061 0.0085 0.0069 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 . . rs139318512 rs139318512 1 1538 10 1/0 0,255,255 +. X 140085584 T C - SPANXB1 14329 SPANX family member B1 NM_032461.3 1 469 312 NP_115850.2 Q9NS25 substitution intron GRCh37 140085584 140085584 ChrX(GRCh37):g.140085584T>C 91-12 91-12 NM_032461.3:c.91-12T>C p.? p.? 2 1 300669 -12 3' 92.2792 XII.96 0.987892 XII.61 88.9645 XII.48 0.984811 XI.37 -0.0200358 transition T C T>C 0.008 -1.005 199 PASS . . . . . . . . . . . . . . . . 0.15714286 . . @ 11 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 70.0 . . INTRON(MODIFIER||||SPANXB1|mRNA|CODING|NM_032461|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . @ . . . . . . ENSG00000227234 SPANXF1 SPANXB1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-199 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,247,255 +. (chrX:140085725 G/C) X 140085725 G C Transcript NM_032461.3: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) SPANXB1 +. (chrX:140097589 T/C) X 140097589 T C Not on a known gene +. (chrX:140097730 G/C) X 140097730 G C Not on a known gene +. X 140671826 T G - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution 3'UTR GRCh37 140671826 140671826 ChrX(GRCh37):g.140671826T>G *34 *34 NM_013453.3:c.*34A>C p.? p.? 2 300305 256 3' 88.9645 XII.48 0.984811 XI.07 88.9645 XII.48 0.984811 XI.07 0 transversion A C A>C 0.004 -0.360 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 140671826 T G - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution 3'UTR GRCh37 140671826 140671826 ChrX(GRCh37):g.140671826T>G *34 *34 NM_145662.3:c.*34A>C p.? p.? 2 300493 256 3' 88.9645 XII.48 0.984811 XI.07 88.9645 XII.48 0.984811 XI.07 0 transversion A C A>C 0.004 -0.360 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 140671826 T G - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140671826 140671826 ChrX(GRCh37):g.140671826T>G 572+63249 572+63249 NR_037183.2:n.572+63249T>G p.? p.? 3 3 63249 5' 84.5009 IX.03 0.989783 0 84.5009 IX.03 0.989783 0 0 transversion T G T>G 0.004 -0.360 198 PASS . . . . . . . . . . . . . . . . 0.15555556 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 45.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-198 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,255,255 +. X 140671952 G C - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution missense exon GRCh37 140671952 140671952 ChrX(GRCh37):g.140671952G>C 202 202 NM_013453.3:c.202C>G p.Leu68Val p.Leu68Val 2 300305 130 3' 88.9645 XII.48 0.984811 XI.07 88.9645 XII.48 0.984811 XI.07 0 New Donor Site 140671953 3.52916 0.205679 74.975 SPANX family protein transversion C G C>G 0.004 -2.216 L Leu CTG 0.404 V Val GTG 0.468 68 2 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 30.92 0.00 Tolerated 1 IV.32 231 PASS . . . . . . . . . . . ENSG00000198021:ENST00000370519:exon2:c.C202G:p.L68V SPANXA2:uc004fbn.3:exon2:c.C202G:p.L68V . . . 0.24545455 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.026 . . 110.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . . @ . . . 0.36 0.24 182 ENSG00000198021 SPANXA2 . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.991 0.882 . . 37 . 0.022 . . 0.443 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.020 . . . . . . . 0.107 . HET 1 . . . . . . . . . . . . . . . ENST00000370519 . . . 0.680000 Q9NS26 . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . . . -2.181 -2.181000 . . 0.680000 . . 1.0E-231 0.000 0.063 . 0.043 0.018 . 0.026 . 0.012 -2.181 -2.345 . rs60435127 rs60435127 rs60435127 rs60435127 1 1538 10 1/0 0,235,255 +. X 140671952 G C - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution missense exon GRCh37 140671952 140671952 ChrX(GRCh37):g.140671952G>C 202 202 NM_145662.3:c.202C>G p.Leu68Val p.Leu68Val 2 300493 130 3' 88.9645 XII.48 0.984811 XI.07 88.9645 XII.48 0.984811 XI.07 0 New Donor Site 140671953 3.52916 0.205679 74.975 transversion C G C>G 0.004 -2.216 L Leu CTG 0.404 V Val GTG 0.468 68 2 1 1 1 1 0 0 4.IX 5.IX 111 84 32 C0 30.92 0.00 Tolerated 1 IV.32 231 PASS . . . . . . . . . . . ENSG00000198021:ENST00000370519:exon2:c.C202G:p.L68V SPANXA2:uc004fbn.3:exon2:c.C202G:p.L68V . . . 0.24545455 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.026 . . 110.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . . @ . . . 0.36 0.24 182 ENSG00000198021 SPANXA2 . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.991 0.882 . . 37 . 0.022 . . 0.443 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.020 . . . . . . . 0.107 . HET 1 . . . . . . . . . . . . . . . ENST00000370519 . . . 0.680000 Q9NS26 . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . . . -2.181 -2.181000 . . 0.680000 . . 1.0E-231 0.000 0.063 . 0.043 0.018 . 0.026 . 0.012 -2.181 -2.345 . rs60435127 rs60435127 rs60435127 rs60435127 1 1538 10 1/0 0,235,255 +. X 140671952 G C - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140671952 140671952 ChrX(GRCh37):g.140671952G>C 572+63375 572+63375 NR_037183.2:n.572+63375G>C p.? p.? 3 3 63375 5' 84.5009 IX.03 0.989783 0 84.5009 IX.03 0.989783 0 0 Cryptic Acceptor Strongly Activated 140671956 0.9988 0.023847 3.39944 0.025923 74.9384 transversion G C G>C 0.004 -2.216 231 PASS . . . . . . . . . . . ENSG00000198021:ENST00000370519:exon2:c.C202G:p.L68V SPANXA2:uc004fbn.3:exon2:c.C202G:p.L68V . . . 0.24545455 . . @ 27 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.023 . @ . . . . . 1 0.026 . . 110.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . . @ . . . 0.36 0.24 182 ENSG00000198021 SPANXA2 . . . . 0.000 0.038 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.991 0.882 . . 37 . 0.022 . . 0.443 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . 0.026 . . 0.040 . . . . . . 1 0.020 . . . . . . . 0.107 . HET 1 . . . . . . . . . . . . . . . ENST00000370519 . . . 0.680000 Q9NS26 . . . . . 0.001 . . . . . . . . . . . . . . . . . . . . . . . . -2.181 -2.181000 . . 0.680000 . . 1.0E-231 0.000 0.063 . 0.043 0.018 . 0.026 . 0.012 -2.181 -2.345 . rs60435127 rs60435127 rs60435127 rs60435127 1 1538 10 1/0 0,235,255 +. X 140672712 G A - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution intron GRCh37 140672712 140672712 ChrX(GRCh37):g.140672712G>A 72+17 72+17 NM_013453.3:c.72+17C>T p.? p.? 1 1 300305 17 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.65101 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1745 20 971 0 88 462 102 0 102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 123 Exomes transition C T C>T 0.012 -2.054 197 PASS . . . . . . . . . . . . . . . . 0.15267175 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +. X 140672712 G A - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution intron GRCh37 140672712 140672712 ChrX(GRCh37):g.140672712G>A 72+17 72+17 NM_145662.3:c.72+17C>T p.? p.? 1 1 300493 17 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.65101 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1745 20 971 0 88 462 102 0 102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 123 Exomes transition C T C>T 0.012 -2.054 197 PASS . . . . . . . . . . . . . . . . 0.15267175 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +. X 140672712 G A - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140672712 140672712 ChrX(GRCh37):g.140672712G>A 572+64135 572+64135 NR_037183.2:n.572+64135G>A p.? p.? 3 3 64135 5' 84.5009 IX.03 0.989783 0 84.5009 IX.03 0.989783 0 0 Cryptic Acceptor Strongly Activated 140672723 0.006396 3.91938 0.003518 66.4237 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1745 20 971 0 88 462 102 0 102 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 123 Exomes transition G A G>A 0.012 -2.054 197 PASS . . . . . . . . . . . . . . . . 0.15267175 . . @ 20 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 131.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 . 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-197 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,219,255 +rs111825908 X 140672884 A G - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution upstream GRCh37 140672884 140672884 ChrX(GRCh37):g.140672884A>G -84 -84 NM_013453.3:c.-84T>C p.? p.? 1 300305 -156 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.51729 0 rs111825908 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13767 Genomes transition T C T>C 0.000 0.528 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111825908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs111825908 rs111825908 1 1538 10 1/0 0,249,255 +rs111825908 X 140672884 A G - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution upstream GRCh37 140672884 140672884 ChrX(GRCh37):g.140672884A>G -84 -84 NM_145662.3:c.-84T>C p.? p.? 1 300493 -156 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.51729 0 rs111825908 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13767 Genomes transition T C T>C 0.000 0.528 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111825908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs111825908 rs111825908 1 1538 10 1/0 0,249,255 +rs111825908 X 140672884 A G - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140672884 140672884 ChrX(GRCh37):g.140672884A>G 573-64045 573-64045 NR_037183.2:n.573-64045A>G p.? p.? 4 3 -64045 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 rs111825908 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 13767 Genomes transition A G A>G 0.000 0.528 192 PASS . . . . . . . . . . . . . . . . 0.140625 . . @ 9 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 64.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs111825908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 9.999999999999999E-193 . . . . . . . . . . . . . . rs111825908 rs111825908 1 1538 10 1/0 0,249,255 +rs112961592 X 140672886 G A - SPANXA1 11218 Sperm protein associated with the nucleus, X-linked, family member A1 NM_013453.3 -1 418 294 NP_038481.2 Q9NS26 substitution upstream GRCh37 140672886 140672886 ChrX(GRCh37):g.140672886G>A -86 -86 NM_013453.3:c.-86C>T p.? p.? 1 300305 -158 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.51729 0 Cryptic Donor Strongly Activated 140672892 3.05045 0.094788 62.6288 3.88506 0.330838 68.4074 rs112961592 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6995 Genomes transition C T C>T 0.000 -2.297 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112961592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs112961592 rs112961592 1 1538 10 1.I 0,0,0 +rs112961592 X 140672886 G A - SPANXA2 14328 SPANX family, member A2 NM_145662.3 -1 418 294 NP_663695.1 Q9NS26 substitution upstream GRCh37 140672886 140672886 ChrX(GRCh37):g.140672886G>A -86 -86 NM_145662.3:c.-86C>T p.? p.? 1 300493 -158 5' 85.8533 9.47697 0.978108 4.51729 85.8533 9.47697 0.978108 4.51729 0 Cryptic Donor Strongly Activated 140672892 3.05045 0.094788 62.6288 3.88506 0.330838 68.4074 rs112961592 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6995 Genomes transition C T C>T 0.000 -2.297 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112961592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs112961592 rs112961592 1 1538 10 1.I 0,0,0 +rs112961592 X 140672886 G A - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140672886 140672886 ChrX(GRCh37):g.140672886G>A 573-64043 573-64043 NR_037183.2:n.573-64043G>A p.? p.? 4 3 -64043 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 rs112961592 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 4 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 6995 Genomes transition G A G>A 0.000 -2.297 176 PASS . . . . . . . . . . . . . . . . 0.10606061 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 66.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . rs112961592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . 0 . . . . . . . . . . . . 1.0E-176 . . . . . . . . . . . . . . rs112961592 rs112961592 1 1538 10 1.I 0,0,0 +. X 140677961 G A - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140677961 140677961 ChrX(GRCh37):g.140677961G>A 573-58968 573-58968 NR_037183.2:n.573-58968G>A p.? p.? 4 3 -58968 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1539 8 845 2 86 426 83 2 87 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes COSM6417688 Thyroid 0.001339 747 transition G A G>A 0.000 -14.080 201 PASS . . . . . . . . . . . ENSG00000203926:ENST00000370518:exon1:c.G67A:p.E23K SPANXA2:uc004fbo.3:exon1:c.G67A:p.E23K . . . 0.16176471 . . @ 22 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203926 SPANXA2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 0.999 0.979 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HET 0.01 . . . . . . . . . . . . . . . ENST00000370518 . . . 0.120000 . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . 0.120000 . . 1.0E-201 0.993 0.376 . 0.062 . . 0.242 . 0.016 . . . . . . . 1 1538 10 1/0 0,219,255 +. X 140677965 T C - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140677965 140677965 ChrX(GRCh37):g.140677965T>C 573-58964 573-58964 NR_037183.2:n.573-58964T>C p.? p.? 4 3 -58964 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1452 6 830 2 67 395 67 0 85 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition T C T>C 0.000 -14.080 196 PASS . . . . . . . . . . . ENSG00000203926:ENST00000370518:exon1:c.T71C:p.M24T SPANXA2:uc004fbo.3:exon1:c.T71C:p.M24T . . . 0.14925373 . . @ 20 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 134.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000203926 SPANXA2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 1.000 0.994 . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . LowAF 0.87 . . . . . . . . . . . . . . . ENST00000370518 . . . 0.380000 . . . . . . . . . . 0 0 0 0 0 . 0 0 0 . . . . . . . . . . . . . . . . 0.380000 . . 1.0E-196 0.993 0.376 . 0.090 . . 0.020 . 0.007 . . . rs1136523 rs1136523 . . 1 1538 10 1/0 0,218,255 +. X 140677973 C T - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140677973 140677973 ChrX(GRCh37):g.140677973C>T 573-58956 573-58956 NR_037183.2:n.573-58956C>T p.? p.? 4 3 -58956 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1392 6 794 2 57 393 55 2 83 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -14.080 196 PASS . . . . . . . . . . . . . . . . 0.1496063 . . @ 19 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 127.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-196 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,220,255 +. X 140677983 C T - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140677983 140677983 ChrX(GRCh37):g.140677983C>T 573-58946 573-58946 NR_037183.2:n.573-58946C>T p.? p.? 4 3 -58946 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1052 4 605 0 46 290 42 2 63 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 0 Exomes+Genomes transition C T C>T 0.000 -14.080 209 PASS . . . . . . . . . . . . . . . . 0.18181819 . . @ 22 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 121.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . . . . ENSG00000226574 SPANXA2-OT1 SPANXA2-OT1 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 . 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-209 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,225,255 +rs60435127 X 140678743 C G - SPANXA2-OT1 31683 SPANXA2 overlapping transcript 1 NR_037183.2 1 1713 0 substitution intron GRCh37 140678743 140678743 ChrX(GRCh37):g.140678743C>G 573-58186 573-58186 NR_037183.2:n.573-58186C>G p.? p.? 4 3 -58186 3' 92.4441 8.20045 0.957814 3.63558 92.4441 8.20045 0.957814 3.63558 0 New Donor Site 140678742 3.52916 0.205679 74.975 rs60435127 no no 0 0.000000 0 transversion C G C>G 0.000 -14.080 200 PASS . . . . . . . . . . . ENSG00000203926:ENST00000370518:exon2:c.C202G:p.L68V SPANXA2:uc004fbo.3:exon2:c.C202G:p.L68V . . . 0.1588785 . . @ 17 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.035 . @ . . . . . 1 0.059 . . 107.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.056 . . exonic exonic exonic . . . @ . . . 0.35 0.28 182 ENSG00000203926 SPANXA2 . . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . D 1.000 0.998 . . 37 . 0.019 . . 0.475 . . . . 0.090 . . . . 0 1 0 0 0 0 0 0 0 0 0 0.010 . . 0 0 0 0 0 0 . . . . . . . . . . . 1 0.020 . . . . . . . 0.146 . HET 1 rs60435127 . . . . . . . . . . . . . . ENST00000370518 . . . 0.680000 . . . . . . 0.008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.680000 . . 1.0E-200 0.105 0.227 . . . . 0.199 . . . . . rs60435127 rs60435127 rs60435127 rs200540319 1 1538 10 1/0 0,228,255 +rs80314937 X 140993722 A C - MAGEC1 6812 Melanoma antigen family C1 NM_005462.4 1 4321 3429 NP_005453.2 O60732 substitution missense exon GRCh37 140993722 140993722 ChrX(GRCh37):g.140993722A>C 532 532 NM_005462.4:c.532A>C p.Ile178Leu p.Ile178Leu 4 300223 528 3' 89.6842 9.42111 0.910993 10.586 89.6842 9.42111 0.910993 10.586 0 Cryptic Acceptor Strongly Activated 140993731 0.792698 0.329546 0.904534 rs80314937 yes no Frequency 1 0.000000 0 0.001181 0.004285 0.000676 0.000202 0.000819 0.001411 0.001015 0.000860 0.000789 0.004285 128 34 10 1 6 16 51 8 2 108404 7935 14787 4940 7328 11341 50235 9303 2535 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 75 0 0 0 0 0 0 0 0 53 15 4 1 2 7 21 2 1 RF 0 Exomes+Genomes COSM4156627|COSM4156627|COSM4156627|COSM4156627 Upper aerodigestive tract|Thyroid|Large intestine|Haematopoietic and lymphoid tissue 0.005865|0.001339|0.001344|0.000277 1364|747|2232|3609 transversion A C A>C 0.299 -2.458 I Ile ATT 0.356 L Leu CTT 0.129 178 12 1 2 2 2 0 0 5.II 4.IX 111 111 5 C0 353.86 0.00 Tolerated 1 IV.32 bad 8.214E-3 0.0003309 177 PASS . . . . . . . . . . . ENSG00000155495:ENST00000285879:exon4:c.A532C:p.I178L MAGEC1:uc004fbt.3:exon4:c.A532C:p.I178L MAGEC1:NM_005462:exon4:c.A532C:p.I178L . . 0.10778443 . . @ 18 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.017 . @ . . . . . 1 0.070 . . 167.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Ctt|I178L|MAGEC1|mRNA|CODING|NM_005462|NM_005462.ex.4) . . . . . . . . . . . . . . . . . . . . 0.0033 0.0010 0.0006 0.0006 0 0.0007 0.0060 0.0009 0.0032 0.0009 0.0006 0 0.0004 0.0008 0.0030 0.0009 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.025 . . exonic exonic exonic . . . @ . . . 0.1 0.08 182 ENSG00000155495 MAGEC1 MAGEC1 . . . 0.001 0.075 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.052 0.003 . . 37 . 0.014 . . 0.452 . . . 0.016 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.065 . . 0 0 0 0 0 0 . 0.090 . . 0.013 . . . . . . 0 0.188 . . . . . 0.125 . 0.117 . LowAF 0.51 rs80314937 . . . . . . . . . . . . IV.78 0.037313 ENST00000285879 . . . 0.380000 O60732 . . . . . 0.008 . . . 0.0030 0.0010 0.0006 0.0002 0.0009 0.0008 0.0010 0.0009 0.0014 0.0071 0.0024 0.0052 0 0 0.0011 0.0009 0 . . . . -2.499 -2.499000 . . 0.380000 . . 1.0E-177 0.000 0.063 . 0.062 0.021 . 0.038 . 0.031 -2.499 -2.138 . . . rs80314937 rs80314937 1 1538 10 1/0 0,205,255 +rs145720656 X 140993964 T A - MAGEC1 6812 Melanoma antigen family C1 NM_005462.4 1 4321 3429 NP_005453.2 O60732 substitution missense exon GRCh37 140993964 140993964 ChrX(GRCh37):g.140993964T>A 774 774 NM_005462.4:c.774T>A p.Ser258Arg p.Ser258Arg 4 300223 770 3' 89.6842 9.42111 0.910993 10.586 89.6842 9.42111 0.910993 10.586 0 rs145720656 yes no Frequency/1000G 2 0.000000 0 0.000095 0.000000 0.000098 0.000000 0.000000 0.000673 0.000017 0.000000 0.000000 0.000673 13 0 2 0 0 10 1 0 0 136430 10132 20367 5258 11308 14864 57434 14078 2989 0.153846 0.000000 0.500000 0.000000 0.000000 0.100000 0.000000 0.000000 0.000000 2 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 8 0 0 0 0 7 1 0 0 PASS 231 Exomes COSM5450948 Large intestine 0.000448 2232 transversion T A T>A 0.000 -0.037 S Ser AGT 0.149 R Arg AGA 0.205 258 12 2 Olive baboon -1 -1 -2 I.42 0.65 9.II 10.V 32 124 110 C0 353.86 0.00 Deleterious 0 IV.32 bad 7.023E-6 9.72E-5 198 PASS 0.07 0.03 0.06 0.0047 0.01 . . . . . . ENSG00000155495:ENST00000285879:exon4:c.T774A:p.S258R MAGEC1:uc004fbt.3:exon4:c.T774A:p.S258R MAGEC1:NM_005462:exon4:c.T774A:p.S258R . . 0.15476191 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.227 . @ . . . . . 1 0.087 . . 84.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agA|S258R|MAGEC1|mRNA|CODING|NM_005462|NM_005462.ex.4) . . . . . . . . . . . . . . . . 1.726e-04 . . . 0 0.0002 0 0 0 0 0 0.0013 0 0.0002 0 0 0 0 0 0.0013 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.019 . . exonic exonic exonic . . . @ . . . 0.13 0.06 182 ENSG00000155495 MAGEC1 MAGEC1 . . . 0.000 0.012 . . . . . . . Uncertain_significance . 0 . . . . . . T 0.026 0.002 . . 37 . 0.009 . . 0.292 . . . 0.424 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.178 . . 0 0 0 0 0 0 . 0.228 . . 0.139 . . . . . . 0 0.912 . . . . . 0.047 . 0.620 . HET 0 rs145720656 . . . . . . . 0.0325497287522604 0.055327868852459015 0.04 0.0034965034965034965 0.006631299734748011 II.56 0.08377 . . . . 0.000000 O60732 . . . . . 0.028 . . . 0 9.529e-05 9.82e-05 0 0 0 1.741e-05 0 0.0007 . . . . . . . . . . . . 0.046 0.046000 . . 0.000000 . . 1.0E-198 0.000 0.063 . 0.043 0.007 . 0.070 . 0.269 0.046 -0.427 0.07 . . rs145720656 rs145720656 1 1538 10 1/0 0,238,255 +rs138735295 X 140993969 T C - MAGEC1 6812 Melanoma antigen family C1 NM_005462.4 1 4321 3429 NP_005453.2 O60732 substitution missense exon GRCh37 140993969 140993969 ChrX(GRCh37):g.140993969T>C 779 779 NM_005462.4:c.779T>C p.Phe260Ser p.Phe260Ser 4 300223 775 3' 89.6842 9.42111 0.910993 10.586 89.6842 9.42111 0.910993 10.586 0 rs138735295 yes no Frequency/1000G 2 0.000000 0 0.000559 0.000000 0.000152 0.000000 0.000000 0.004505 0.000168 0.000000 0.000000 0.004505 79 0 3 0 0 66 10 0 0 141437 12402 19684 5297 11302 14652 59668 15276 3156 0.000028 0.000000 0.000102 0.000000 0.000000 0.000137 0.000000 0.000000 0.000000 2 0 1 0 0 1 0 0 0 20 0 0 0 0 0 0 0 0 55 0 0 0 0 49 6 0 0 RF 0 Exomes+Genomes COSM4699924 Large intestine 0.001344 2232 transition T C T>C 0.000 0.367 F Phe TTT 0.454 S Ser TCT 0.185 260 12 1 -2 -2 -4 0 I.42 5.II 9.II 132 32 155 C0 353.86 0.00 Tolerated 0.32 IV.32 bad 2.736E-4 0.0003092 197 PASS 0.07 0.03 0.06 0.01 0.02 . . . . . . ENSG00000155495:ENST00000285879:exon4:c.T779C:p.F260S MAGEC1:uc004fbt.3:exon4:c.T779C:p.F260S MAGEC1:NM_005462:exon4:c.T779C:p.F260S . . 0.15189873 . . @ 12 . . 1.2.2016 0 0 0 0 1 0 0 0 1 0 0 0 . . . . . . 0.039 . @ . . . . . 1 0.010 . . 79.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tCt|F260S|MAGEC1|mRNA|CODING|NM_005462|NM_005462.ex.4) . . . . . . . . . . . . . . . . 9.721e-04 . . . 0 0.0011 0.0005 0 0 0.0001 0 0.0063 0 0.0011 0.0005 0 0 0.0004 0 0.0063 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.024 . . exonic exonic exonic . . . @ . . . 0.11 0.06 182 ENSG00000155495 MAGEC1 MAGEC1 . . . 0.000 0.012 . . . . . . . Likely_benign . 0 . . . . . . T 0.059 0.003 . . 37 . 0.008 . . 0.437 . . . 0.339 0.090 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.055 . . 0 0 0 0 0 0 . 0.151 . . 0.013 . . . . . . 0 0.132 . . . . . 0.111 . 0.590 . HET 0 rs138735295 . . . . . . . 0.03375527426160337 0.05327868852459016 0.04 0.005244755244755245 0.009283819628647215 IV.59 0.056264 . . . . 0.540000 O60732 . . . . . 0.024 . . . 0 0.0006 0.0002 0 0 0 0.0001 0 0.0045 0 0.0002 0 0 0 0 0.0005 0 . . . . 0.046 0.046000 . . 0.540000 . . 1.0E-197 0.000 0.063 . 0.043 0.026 . 0.060 . 0.005 0.046 0.643 0.07 . . rs138735295 rs138735295 1 1538 10 1/0 0,241,255 +rs144495362 X 140993982 C A - MAGEC1 6812 Melanoma antigen family C1 NM_005462.4 1 4321 3429 NP_005453.2 O60732 substitution synonymous exon GRCh37 140993982 140993982 ChrX(GRCh37):g.140993982C>A 792 792 NM_005462.4:c.792C>A p.Ala264= p.Ala264Ala 4 300223 788 3' 89.6842 9.42111 0.910993 10.586 89.6842 9.42111 0.910993 10.586 0 rs144495362 yes no Frequency/1000G 2 0.000000 0 0.000577 0.000000 0.000363 0.000000 0.000000 0.004233 0.000201 0.000000 0.000000 0.004233 81 0 7 0 0 62 12 0 0 140307 11828 19271 5346 11114 14647 59810 15171 3120 0.000043 0.000000 0.000104 0.000000 0.000000 0.000137 0.000033 0.000000 0.000000 3 0 1 0 0 1 1 0 0 23 0 0 0 0 0 0 0 0 52 0 1 0 0 45 6 0 0 RF 0 Exomes+Genomes COSM5450953 Large intestine 0.000448 2232 transversion C A C>A 0.008 0.125 A Ala GCC 0.403 A Ala GCA 0.226 264 239 PASS 0.07 0.03 0.06 0.01 0.02 . . . . . . ENSG00000155495:ENST00000285879:exon4:c.C792A:p.A264A MAGEC1:uc004fbt.3:exon4:c.C792A:p.A264A MAGEC1:NM_005462:exon4:c.C792A:p.A264A . . 0.27272728 . . @ 21 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 77.0 . . SYNONYMOUS_CODING(LOW|SILENT|gcC/gcA|A264|MAGEC1|mRNA|CODING|NM_005462|NM_005462.ex.4) . . . . . . . . . . . . . . . . 1.112e-03 . . . 0.0002 0.0012 0.0006 0.0003 0 0.0005 0.0039 0.0053 0.0002 0.0012 0.0007 0.0002 0 0.0007 0 0.0053 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.09 0.06 182 ENSG00000155495 MAGEC1 MAGEC1 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . rs144495362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0006 0.0004 0 0 0 0.0002 0 0.0042 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-239 . . . . . . . . . . . 0.07 . . rs144495362 rs144495362 1 1538 10 1/0 0,252,255 +rs879953135 (chrX:145891283 G/C) X 145891283 G C Not on a known gene +rs1028509 X 145896268 C G - CXorf51A 30533 Chromosome X open reading frame 51A NM_001144064.2 -1 438 327 NP_001137536.1 substitution upstream GRCh37 145896268 145896268 ChrX(GRCh37):g.145896268C>G -27 -27 NM_001144064.2:c.-27G>C p.? p.? 1 -159 5' 90.0021 8.68007 0.941685 5.31449 90.0021 8.68007 0.941685 5.31449 0 rs1028509 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 0.205 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 130.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.67 0.31 182 ENSG00000224440 CXorf51A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.283 0.312 . . . . . . . . . . . . . . . . . . . . Name\x3desv27791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.28 rs1028509 rs1028509 rs1028509 rs1028509 1 1538 255 1.I 0,0,255 +rs1028509 X 145896268 C G - CXorf51B 42787 Chromosome X open reading frame 51B NM_001244892.1 -1 438 327 NP_001231821.1 substitution upstream GRCh37 145896268 145896268 ChrX(GRCh37):g.145896268C>G -27 -27 NM_001244892.1:c.-27G>C p.? p.? 1 -159 5' 90.0021 8.68007 0.941685 5.31449 90.0021 8.68007 0.941685 5.31449 0 rs1028509 yes no Frequency 1 0.000000 0 transversion G C G>C 0.000 0.205 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 130 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 130.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . upstream upstream upstream . . . @ . . . 0.67 0.31 182 ENSG00000224440 CXorf51A . . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.283 0.312 . . . . . . . . . . . . . . . . . . . . Name\x3desv27791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.28 rs1028509 rs1028509 rs1028509 rs1028509 1 1538 255 1.I 0,0,255 +rs1270092 X 147003564 T C - FMR1 3775 Fragile X mental retardation 1 NM_002024.5 1 4411 1899 NP_002015.1 Q06787 substitution intron GRCh37 147003564 147003564 ChrX(GRCh37):g.147003564T>C 104+61 104+61 NM_002024.5:c.104+61T>C p.? p.? 2 2 309550 61 5' 87.864 10.0774 0.994223 1.03509 87.864 10.0774 0.994223 0.996185 0 rs1270092 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999954 0.999832 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 21669 5965 596 187 1040 0 10609 2557 715 21670 5966 596 187 1040 0 10609 2557 715 0.319443 0.311148 0.348993 0.224599 0.268269 0.000000 0.315770 0.365663 0.352448 6922 1856 208 42 279 0 3350 935 252 0 0 0 0 0 0 0 0 0 7825 2253 180 103 482 0 3909 687 211 PASS 43 Genomes transition T C T>C 0.000 -3.507 111 PASS 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 1.0 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.0000 . . . 0.38 0.24 182 ENSG00000102081 FMR1-AS1 FMR1 . uc011mwy.1:c.-71A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.739 0.739 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7141 . . . . . . . . . . . . . . . 0.9998 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1270092 rs1270092 rs1270092 rs1270092 1 1538 255 1.I 0,0,255 +rs1270092 X 147003564 T C - FMR1-AS1 39081 FMR1 antisense RNA 1 NR_024499.1 -1 3026 0 substitution exon GRCh37 147003564 147003564 ChrX(GRCh37):g.147003564T>C 113 113 NR_024499.1:n.113A>G 1 300805 -113 5' 0 0 0 0 0 0 0 0 0 rs1270092 yes no Frequency/1000G 2 C 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999954 0.999832 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 21669 5965 596 187 1040 0 10609 2557 715 21670 5966 596 187 1040 0 10609 2557 715 0.319443 0.311148 0.348993 0.224599 0.268269 0.000000 0.315770 0.365663 0.352448 6922 1856 208 42 279 0 3350 935 252 0 0 0 0 0 0 0 0 0 7825 2253 180 103 482 0 3909 687 211 PASS 43 Genomes transition A G A>G 0.000 -3.507 111 PASS 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 1.0 . . @ 56 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 56.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic UTR5 intronic . . . 0.0000 . . . 0.38 0.24 182 ENSG00000102081 FMR1-AS1 FMR1 . uc011mwy.1:c.-71A>G . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . 0.739 0.739 . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7141 . . . . . . . . . . . . . . . 0.9998 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 1. rs1270092 rs1270092 rs1270092 rs1270092 1 1538 255 1.I 0,0,255 +rs375802594 X 147582594 G A - AFF2 3776 AF4/FMR2 family, member 2 NM_002025.3 1 13746 3936 NP_002016.2 P51816 substitution 5'UTR GRCh37 147582594 147582594 ChrX(GRCh37):g.147582594G>A -24 -24 NM_002025.3:c.-24G>A p.? p.? 1 300806 -71 5' 78.3536 7.22905 0.768775 5.48367 78.3536 7.22905 0.768775 5.393 0 rs375802594 yes no Frequency/1000G 2 G 0.000000 0 0.000265 0.000000 0.000000 0.000000 0.001300 0.000000 0.000135 0.000000 0.000000 0.000000 0.000000 0.000000 0.000290 0.000000 0.000217 0.000290 26 0 0 0 0 0 25 0 1 192305 17299 26930 7404 13738 19002 86223 17107 4602 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 16 0 0 0 0 0 0 0 0 10 0 0 0 0 0 9 0 1 PASS 0 Exomes+Genomes 6721 3824 10545 4 1 5 0.000594796 0.000261438 0.000473934 0.000594796 0.000261438 0.000473934 50 transition G A G>A 0.000 0.044 255 PASS . . . . . . 0.0003 . . 0.001 . . . . . . 0.45054945 . . @ 41 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 91.0 . . . 0.0003 0.0005 0.0006 0.0003 0.0005 0.0006 . . . . . . . . . . 1.028e-04 . . . 0 0.0001 0 0 0 0.0003 0 0 0 9.76e-05 0 0 0 0.0002 0 0 . . . . . . UTR5 UTR5 UTR5 . . . 0.0003 . . . 0.68 0.48 182 ENSG00000155966 AFF2 AFF2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv523386 0.000474 . . . . . 0 0.0001 0 0 0 0 0.0003 0.0003 0 0 0.0001 0 0 0 0 0.0003 0 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0006 . . rs375802594 rs375802594 1 1538 10 1/0 0,255,255 +. X 147733265 G GA - AFF2 3776 AF4/FMR2 family, member 2 NM_002025.3 1 13746 3936 NP_002016.2 P51816 duplication intron GRCh37 147733266 147733267 ChrX(GRCh37):g.147733266dup 48-254 48-254 NM_002025.3:c.48-254dup p.? p.? 2 1 300806 -253 3' 84.7458 6.88341 0.774694 5.23163 84.7458 6.88341 0.774694 5.23163 0 rs5904246 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999953 1.000000 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 0.998609 1.000000 21372 5800 605 189 1026 0 10448 2586 718 21373 5800 605 189 1026 0 10448 2586 719 0.323695 0.319828 0.343802 0.222222 0.271930 0.000000 0.320061 0.362336 0.352368 6918 1855 208 42 279 0 3344 937 253 0 0 0 0 0 0 0 0 0 7536 2090 189 105 468 0 3760 712 212 PASS 42 Genomes A 255 Pass 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 0.8695652 . . . 40 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000155966 AFF2 AFF2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv7142 . . . . . . . . . . . . . . . 1 1.0000 1 1 1 1 1 0.9986 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs5904246 rs5904246 rs5904246 1 1538 10 1.I 0,5,6 +. X 148615593 C T - LINC00893 44265 Long intergenic non-protein coding RNA 893 NR_027455.5 -1 2348 0 substitution exon GRCh37 148615593 148615593 ChrX(GRCh37):g.148615593C>T 835 835 NR_027455.5:n.835G>A 6 314 3' 82.5081 9.60947 0.991308 IX.01 82.5081 9.60947 0.991308 IX.01 0 0.001458 0.000149 0.002059 0.000000 0.000000 0.000000 0.001628 0.007471 0.000906 0.007471 107 1 34 0 0 0 43 27 2 73400 6702 16515 2836 7178 7932 26416 3614 2207 0.000027 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000553 0.000000 1 0 0 0 0 0 0 1 0 73 0 0 0 0 0 0 0 0 32 0 14 0 0 0 12 6 0 RF 0 Exomes+Genomes transition G A G>A 0.000 0.044 205 PASS . . . . . . . . . . . . LINC00893:uc011mxl.1:exon3:c.G368A:p.G123E . . . 0.17333333 . . @ 13 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 75.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G279R|LINC00893|Non-coding_transcript|NON_CODING|NR_027455|NR_027455.ex.6) . . . . . . . . . . . . . . . . 5.112e-04 . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV . . . . ncRNA_exonic exonic ncRNA_exonic . . . @ . . . 0.49 0.09 182 ENSG00000241769 LINC00893 LINC00893 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0012 0.0021 0 0 0.0060 0.0014 0.0011 0 0 0.0031 0 0 0 0.0089 0.0029 0 . . . . . . . . . . . 1.0E-205 . . . . . . . . . . . . . . rs2855996 rs2855996 1 1538 10 1/0 0,245,255 +. X 148674639 G A - HSFX1 29603 Heat shock transcription factor family, X linked 1 NM_016153.2 -1 1955 1272 NP_057237.1 Q9UBD0 substitution synonymous exon GRCh37 148674639 148674639 ChrX(GRCh37):g.148674639G>A 885 885 NM_016153.2:c.885C>T p.Ala295= p.Ala295Ala 2 321 3' 77.102 4.21735 0.655653 0 77.102 4.21735 0.655653 0 0 transition C T C>T 0.000 -0.037 A Ala GCC 0.403 A Ala GCT 0.263 295 238 PASS . . . . . . . . . . . ENSG00000171129:ENST00000524178:exon2:c.C885T:p.A295A HSFX2:uc022cgk.1:exon2:c.C885T:p.A295A . . . 0.26616916 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 402.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000171129 HSFX2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,251 +. X 148674639 G A - HSFX2 32701 Heat shock transcription factor family, X-linked 2 NM_001164415.2 -1 1962 1272 NP_001157887.1 Q9UBD0 substitution synonymous exon GRCh37 148674639 148674639 ChrX(GRCh37):g.148674639G>A 885 885 NM_001164415.2:c.885C>T p.Ala295= p.Ala295Ala 2 321 3' 77.102 4.21735 0.655653 0 77.102 4.21735 0.655653 0 0 transition C T C>T 0.000 -0.037 A Ala GCC 0.403 A Ala GCT 0.263 295 238 PASS . . . . . . . . . . . ENSG00000171129:ENST00000524178:exon2:c.C885T:p.A295A HSFX2:uc022cgk.1:exon2:c.C885T:p.A295A . . . 0.26616916 . . @ 107 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 402.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . . . . ENSG00000171129 HSFX2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-238 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,182,251 +rs2071188 X 148675915 G A - HSFX1 29603 Heat shock transcription factor family, X linked 1 NM_016153.2 -1 1955 1272 NP_057237.1 Q9UBD0 substitution missense exon GRCh37 148675915 148675915 ChrX(GRCh37):g.148675915G>A 446 446 NM_016153.2:c.446C>T p.Ser149Leu p.Ser149Leu 1 -119 5' 82.2818 8.99306 0.968682 9.09505 82.2818 8.99306 0.968682 9.09505 0 rs2071188 no no 0 0.000000 0 transition C T C>T 0.000 -0.763 S Ser TCG 0.056 L Leu TTG 0.127 149 12 5 Tetraodon -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 221.66 57.56 Tolerated 0.06 II.58 good 1.667E-2 0.01201 245 PASS . . . . . . . . . . . . HSFX2:uc022cgk.1:exon1:c.C446T:p.S149L . . . 0.29054055 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.192 . . 148.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.907 . . exonic exonic exonic . . 0.063 @ . . . 0.42 0.39 182 ENSG00000171129 HSFX2 . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.056 . . . . D 0.953 0.510 . . 37 . 0.853 . . 0.668 . . . 0.334 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.119 . . 0.080 . . . . . . 3 . . . . . . 0.087 . 0.331 . HET 0.05 rs2071188 . . . . . . . . . . . . III.99 . ENST00000524178 II.94 -2.34 . 0.090000 Q9UBD0 . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . . . -1.102 -1.102000 . . 0.090000 . . 1.0E-245 0.000 0.063 . 0.016 0.043 . 0.036 . 0.014 -1.102 -0.960 . rs2071188 rs2071188 rs2071188 rs2071188 1 1538 10 1/0 0,226,255 +rs2071188 X 148675915 G A - HSFX2 32701 Heat shock transcription factor family, X-linked 2 NM_001164415.2 -1 1962 1272 NP_001157887.1 Q9UBD0 substitution missense exon GRCh37 148675915 148675915 ChrX(GRCh37):g.148675915G>A 446 446 NM_001164415.2:c.446C>T p.Ser149Leu p.Ser149Leu 1 -119 5' 82.2818 8.99306 0.968682 9.09505 82.2818 8.99306 0.968682 9.09505 0 Heat shock factor (HSF)-type, DNA-binding rs2071188 no no 0 0.000000 0 transition C T C>T 0.000 -0.763 S Ser TCG 0.056 L Leu TTG 0.127 149 12 6 Chicken -3 -2 -4 I.42 0 9.II 4.IX 32 111 145 C0 254.51 IX.71 Tolerated 0.15 II.93 245 PASS . . . . . . . . . . . . HSFX2:uc022cgk.1:exon1:c.C446T:p.S149L . . . 0.29054055 . . @ 43 . . 1.2.2016 0 0 0 0 1 0 0 0 0 0 0 0 . . . . . . 0.052 . @ . . . . . 1 0.192 . . 148.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.907 . . exonic exonic exonic . . 0.063 @ . . . 0.42 0.39 182 ENSG00000171129 HSFX2 . . . . 0.000 0.029 . . . . . . . Uncertain_significance . 0 . 0.056 . . . . D 0.953 0.510 . . 37 . 0.853 . . 0.668 . . . 0.334 0.090 . . . . 1 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . 0.119 . . 0.080 . . . . . . 3 . . . . . . 0.087 . 0.331 . HET 0.05 rs2071188 . . . . . . . . . . . . III.99 . ENST00000524178 II.94 -2.34 . 0.090000 Q9UBD0 . . . . . 0.029 . . . . . . . . . . . . . . . . . . . . . . . . -1.102 -1.102000 . . 0.090000 . . 1.0E-245 0.000 0.063 . 0.016 0.043 . 0.036 . 0.014 -1.102 -0.960 . rs2071188 rs2071188 rs2071188 rs2071188 1 1538 10 1/0 0,226,255 +rs2071187 X 148676307 T C - HSFX1 29603 Heat shock transcription factor family, X linked 1 NM_016153.2 -1 1955 1272 NP_057237.1 Q9UBD0 substitution synonymous exon GRCh37 148676307 148676307 ChrX(GRCh37):g.148676307T>C 54 54 NM_016153.2:c.54A>G p.Arg18= p.Arg18Arg 1 -511 5' 82.2818 8.99306 0.968682 9.09505 82.2818 8.99306 0.968682 9.09505 0 rs2071187 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.440 R Arg AGA 0.205 R Arg AGG 0.207 18 255 PASS . . . . . . . . . . . . HSFX2:uc022cgk.1:exon1:c.A54G:p.R18R . . . 0.7894737 . . @ 135 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 171.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.39 182 ENSG00000171129 HSFX2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2071187 rs2071187 rs2071187 rs200199452 1 1538 10 1/0 0,250,247 +rs2071187 (chrX:148676307 T/C) X 148676307 T C Transcript NM_001164415.2: Genome/Transcript discrepancy: Alternate genomic nucleotide (C) same as transcript nucleotide (Assembly: GRCh37) HSFX2 +rs2071187 X 148676307 T C - TMEM185A 17125 Transmembrane protein 185A NM_032508.2 -1 2732 1053 NP_115897.1 Q8NFB2 substitution downstream GRCh37 148676307 148676307 ChrX(GRCh37):g.148676307T>C *3364 *3364 NM_032508.2:c.*3364A>G p.? p.? 7 300031 3609 3' 98.6259 8.94799 0.898777 1.0523 98.6259 8.94799 0.898777 1.0523 0 rs2071187 yes no Frequency 1 0.000000 0 transition A G A>G 0.000 -0.440 255 PASS . . . . . . . . . . . . HSFX2:uc022cgk.1:exon1:c.A54G:p.R18R . . . 0.7894737 . . @ 135 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 171.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.41 0.39 182 ENSG00000171129 HSFX2 . . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 3 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.011 rs2071187 rs2071187 rs2071187 rs200199452 1 1538 10 1/0 0,250,247 +rs199726714 X 148682039 T C - TMEM185A 17125 Transmembrane protein 185A NM_032508.2 -1 2732 1053 NP_115897.1 Q8NFB2 substitution synonymous exon GRCh37 148682039 148682039 ChrX(GRCh37):g.148682039T>C 612 612 NM_032508.2:c.612A>G p.Ala204= p.Ala204Ala 5 300031 -73 5' 91.1667 9.84565 0.998431 XII.28 91.1667 9.84565 0.998431 13.0677 0 Transmembrane Fragile-X-F-associated protein rs199726714 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes COSM3681658 Haematopoietic and lymphoid tissue 0.000283 3530 transition A G A>G 0.575 -1.651 A Ala GCA 0.226 A Ala GCG 0.107 204 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 235 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 235.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . @ . . . 0.53 0.66 182 ENSG00000155984 TMEM185A TMEM185A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 1 . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . II.77 . ENST00000502858 III.96 -2.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . -1.083 -1.083000 . . . . . 1.0E-111 . . . . . . . . . -1.083 . 0.011 . rs2071186 rs2071186 rs199726714 1 1538 255 1.I 0,0,255 +rs200063215 X 148850662 A G - TMEM185AP1 31717 Transmembrane protein 185A pseudogene 1 ENST00000524311.1 1 546 0 substitution exon GRCh37 148850662 148850662 ChrX(GRCh37):g.148850662A>G 105 105 ENST00000524311.1:n.105A>G 1 -73 5' 91.1667 9.84565 0.998431 XII.28 91.1667 9.84565 0.998431 13.0677 0 rs200063215 no no 0 0.000000 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 AC0 0 Exomes transition A G A>G 0.449 -2.297 111 PASS . . . . . . . . . . . . TMEM185A:uc011mxr.1:exon1:c.A78G:p.A26A . . . 1.0 . . @ 290 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 3 . . . 290.0 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . synonymous_SNV . . . . ncRNA_exonic exonic intergenic . . . @ . . . 0.69 0.49 182 ENSG00000235254 TMEM185A . . . dist\x3d51734\x3bdist\x3d5064 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . . . . . . . . . . . . HOM . . 0.011 0.007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . 0.011 . rs2071186 rs2071186 rs200063215 1 1538 255 1.I 0,0,255 +rs201561571 (chrX:148856393 A/G) X 148856393 A G Not on a known gene +rs201098724 (chrX:148856785 C/T) X 148856785 C T Not on a known gene +. (chrX:148858061 C/T) X 148858061 C T Not on a known gene +. X 149114412 T TCTC - LINC00894 48579 Long intergenic non-protein coding RNA 894 NR_027456.1 1 3182 0 insertion exon GRCh37 149114414 149114415 ChrX(GRCh37):g.149114414_149114415insCCT 1093 1094 NR_027456.1:n.1093_1094insCCT 6 339 3' 82.5081 9.60947 0.991308 8.91109 82.5081 9.60947 0.991308 8.91109 0 0.006561 0.007671 0.007722 0.000000 0.004785 0.000000 0.009067 0.000579 0.017167 0.009067 43 11 2 0 1 0 24 1 4 6554 1434 259 46 209 0 2647 1726 233 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 43 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 54 Genomes CCT 255 Pass . . . . . . . . . . . . . . . . 0.26923078 . . . 14 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 1 . . . 52 . . CODON_INSERTION(MODERATE||ttc/ttCTCc|F364FS|LINC00894|Non-coding_transcript|NON_CODING|NR_027456|NR_027456.ex.6) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . . . . . . . . ENSG00000235703 LINC00894 LINC00894 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv525908 . . . . . . . . . . . . . . . 0.0077 0.0066 0.0077 0 0.0048 0.0006 0.0091 0.0172 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,10,57 +rs5924687 X 150911513 T C - CNGA2 2149 Cyclic nucleotide gated channel alpha 2 NM_005140.1 1 3285 1995 NP_005131.1 Q16280 substitution intron GRCh37 150911513 150911513 ChrX(GRCh37):g.150911513T>C 590-52 590-52 NM_005140.1:c.590-52T>C p.? p.? 7 6 300338 -52 3' 83.5903 9.04658 0.973209 6.94756 83.5903 9.04658 0.973209 6.81547 0 rs5924687 yes no Frequency/1000G 2 0.000000 0 0.984371 0.992000 0.994400 0.972500 0.975200 0.986600 transition T C T>C 0.000 0.851 111 PASS . . . . . 0.75 0.98 0.74 0.74 0.74 0.73 . . . . . 1.0 . . @ 7 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 7.0 . . INTRON(MODIFIER||||CNGA2|mRNA|CODING|NM_005140|) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . 0.0156 . . . 0.22 0.21 182 ENSG00000183862 CNGA2 CNGA2 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs5924687 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv518142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs5924687 rs5924687 rs5924687 rs5924687 1 1538 255 1.I 0,0,255 +. X 151877377 C T - CSAG2 16847 CSAG family, member 2 NM_001080848.2 -1 847 384 NP_001074317.2 Q9Y5P2 substitution missense exon GRCh37 151877377 151877377 ChrX(GRCh37):g.151877377C>T 218 218 NM_001080848.2:c.218G>A p.Arg73Gln p.Arg73Gln 1 -97 5' 65.2648 0 0.044207 1.73727 65.2648 0 0.044207 1.73727 0 transition G A G>A 0.028 -0.521 R Arg CGA 0.110 Q Gln CAA 0.256 73 1 1 1 0.65 0.89 10.V 10.V 124 85 43 244 PASS . . . . . . . . . . . . . . . . 0.2867647 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000197463 CSAG2 CSAG3 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +. X 151877377 C T - CSAG3 26237 CSAG family, member 3 NM_001129826.2 -1 847 384 NP_001123298.1 Q9Y5P2 substitution missense exon GRCh37 151877377 151877377 ChrX(GRCh37):g.151877377C>T 218 218 NM_001129826.2:c.218G>A p.Arg73Gln p.Arg73Gln 1 -97 5' 65.2648 0 0.044207 1.73727 65.2648 0 0.044207 1.73727 0 transition G A G>A 0.028 -0.521 R Arg CGA 0.110 Q Gln CAA 0.256 73 1 1 1 0.65 0.89 10.V 10.V 124 85 43 244 PASS . . . . . . . . . . . . . . . . 0.2867647 . . @ 39 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 136.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . . . . ENSG00000197463 CSAG2 CSAG3 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000000000000001E-244 . . . . . . . . . . . . . . . . 1 1538 10 1/0 0,229,255 +rs879996665 X 151877408 C T - CSAG2 16847 CSAG family, member 2 NM_001080848.2 -1 847 384 NP_001074317.2 Q9Y5P2 substitution missense exon GRCh37 151877408 151877408 ChrX(GRCh37):g.151877408C>T 187 187 NM_001080848.2:c.187G>A p.Ala63Thr p.Ala63Thr 1 -128 5' 65.2648 0 0.044207 1.73727 65.2648 0 0.044207 1.73727 0 rs879996665 no no 0 C 0.000000 0 COSM4002277 Haematopoietic and lymphoid tissue 0.001133 3530 transition G A G>A 0.000 -1.409 A Ala GCT 0.263 T Thr ACT 0.243 63 0 0 0 0 0.71 8.I 8.VI 31 61 58 210 PASS . . . . . . . . . . . . . . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.56 0.3 182 ENSG00000197463 CSAG2 CSAG3 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . rs1894362 rs1894362 rs1894362 rs1894362 1 1538 10 1/0 0,217,255 +rs879996665 X 151877408 C T - CSAG3 26237 CSAG family, member 3 NM_001129826.2 -1 847 384 NP_001123298.1 Q9Y5P2 substitution missense exon GRCh37 151877408 151877408 ChrX(GRCh37):g.151877408C>T 187 187 NM_001129826.2:c.187G>A p.Ala63Thr p.Ala63Thr 1 -128 5' 65.2648 0 0.044207 1.73727 65.2648 0 0.044207 1.73727 0 rs879996665 no no 0 C 0.000000 0 COSM4002277 Haematopoietic and lymphoid tissue 0.001133 3530 transition G A G>A 0.000 -1.409 A Ala GCT 0.263 T Thr ACT 0.243 63 0 0 0 0 0.71 8.I 8.VI 31 61 58 210 PASS . . . . . . . . . . . . . . . . 0.1849315 . . @ 27 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . . . @ . . . . . 1 . . . 146.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . nonsynonymous_SNV nonsynonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.56 0.3 182 ENSG00000197463 CSAG2 CSAG3 . . . . . . . . . . . . Uncertain_significance . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 1 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET 0.54 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-210 . . . . . . . . . . . . rs1894362 rs1894362 rs1894362 rs1894362 1 1538 10 1/0 0,217,255 +rs182694662 X 151896605 C T - CSAG4 20923 CSAG family member 4 (pseudogene) NR_073432.1 -1 755 0 substitution exon GRCh37 151896605 151896605 ChrX(GRCh37):g.151896605C>T 336 336 NR_073432.1:n.336G>A 3 -46 5' 87.5642 8.40856 0.990429 6.33249 87.5642 8.40856 0.990429 6.12386 0 rs182694662 yes no Frequency/1000G 2 0.000000 0 0.001060 0.000000 0.000000 0.000000 0.002600 0.003800 0.001837 0.000523 0.000000 0.000000 0.000000 0.000000 0.002616 0.001888 0.005587 0.002616 39 3 0 0 0 0 27 5 4 21232 5735 607 181 1025 0 10320 2648 716 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 27 0 0 0 0 0 0 0 0 12 1 0 0 0 0 8 2 1 PASS 43 Genomes transition G A G>A 0.008 -1.005 255 PASS . 0.0024 0.01 . 0.0034 . 0.0011 0.0029 . 0.002 . . . . . . 0.44715446 . . @ 55 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 123.0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . 0.0011 . . . 0.25 0.05 182 ENSG00000242599 CSAG4 CSAG4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 3 . . . . . . . . . . HET . rs182694662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0018 0 0 0 0.0019 0.0026 0.0056 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.01 . . rs182694662 rs182694662 1 1538 10 1/0 0,244,255 +rs1894362 (chrX:151928073 G/A) X 151928073 G A Not on a known gene +. (chrX:151928104 G/A) X 151928104 G A Not on a known gene +. X 153174819 T TG - ARHGAP4 674 Rho GTPase activating protein 4 NM_001164741.1 -1 3372 2961 NP_001158213.1 duplication intron GRCh37 153174819 153174820 ChrX(GRCh37):g.153174820dup 2627+77 2627+77 NM_001164741.1:c.2627+77dup p.? p.? 21 21 300023 77 5' 80.9448 8.68617 0.992559 10.1618 80.9448 8.68617 0.992559 10.1415 0 rs11394527 yes no Frequency/1000G 2 0.000000 0 1.000000 1.000000 1.000000 1.000000 1.000000 1.000000 0.999953 0.999830 1.000000 1.000000 1.000000 0.000000 1.000000 1.000000 1.000000 1.000000 21260 5892 614 180 1023 0 10197 2652 702 21261 5893 614 180 1023 0 10197 2652 702 0.325071 0.314155 0.338762 0.233333 0.273705 0.000000 0.327645 0.353318 0.358974 6911 1851 208 42 280 0 3341 937 252 1 0 0 0 0 0 0 0 0 7437 2189 198 96 463 0 3515 778 198 PASS 49 Genomes C 255 Pass 1. 1. 1. 1. 1. 0.76 1. 0.76 0.76 0.76 0.73 . . . . . 0.9807692 . . . 102 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 2 . . . 104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . intronic intronic intronic . . . . . . . . . . ENSG00000089820 ARHGAP4 ARHGAP4 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . . . . . . . . HOM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 1.0000 1 1 1 1 1 1 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 1. . rs11394527 rs11394527 rs11394527 1 1538 255 1.I 0,0,255 +rs144427741 X 153735235 G A - FAM3A 13749 Family with sequence similarity 3, member A NM_001282311.1 -1 1913 735 NP_001269240.1 substitution synonymous exon GRCh37 153735235 153735235 ChrX(GRCh37):g.153735235G>A 642 642 NM_001282311.1:c.642C>T p.His214= p.His214His 10 300492 3 3' 76.6995 X.95 0.979165 14.7688 76.6995 X.77 0.971933 14.5615 -0.00834468 rs144427741 yes no Frequency/1000G 2 G 0.000000 0 0.000530 0.001000 0.001400 0.000000 0.000000 0.000000 0.000077 0.000223 0.000000 0.000000 0.000000 0.000108 0.000091 0.000000 0.000213 0.000223 15 4 0 0 0 2 8 0 1 195283 17952 26910 7408 13653 18470 87713 18481 4696 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 13 0 0 0 0 0 0 0 0 2 1 0 0 0 0 1 0 0 PASS 0 Exomes+Genomes 6728 3833 10561 0 2 2 0 0.000521512 0.00018934 0 0.000521512 0.00018934 108 transition C T C>T 0.622 -0.924 H His CAC 0.587 H His CAT 0.413 214 255 PASS . . . . . 0.0008 0.0005 . . . 0.001 . . . . . 0.43165466 . . @ 60 . . 1.2.2016 0 0 0 0 1 0 0 1 0 0 0 0 . . . . . . . . @ . . . . . 2 . . . 139.0 . . . 0.0005 0.0002 . 0.0005 0.0002 . . . . . . . . . . . 7.899e-05 . . . 0.0005 0.0001 0 0 0 8.194e-05 0 0 0.0006 9.725e-05 0 0 0 6.449e-05 0 0 synonymous_SNV synonymous_SNV synonymous_SNV . . . exonic exonic exonic . . . 0.0005 . . . 0.32 0.43 182 ENSG00000071889 FAM3A FAM3A . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . 0.000189 . . . . . 0.0003 8.065e-05 0 0 0 0 0.0001 0 0.0001 0 4.608e-05 0 0 0 0 0 0.0014 . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . 0.0005 . . rs144427741 rs144427741 1 1538 10 1/0 0,239,255 +rs202122673 X 153760419 G A - G6PD 4057 Glucose-6-phosphate dehydrogenase NM_000402.4 -1 2396 1638 NP_000393.4 substitution missense exon GRCh37 153760419 153760419 ChrX(GRCh37):g.153760419G>A 1531 1531 NM_000402.4:c.1531C>T p.Pro511Ser p.Pro511Ser 12 305900 -17 5' 90.6189 10.0684 0.978717 7.132 90.6189 10.0684 0.978717 7.40923 0 Glucose-6-phosphate dehydrogenase, C-terminal Glucose-6-phosphate dehydrogenase rs202122673 yes no Frequency 1 G 0.000000 0 0.000055 0.000056 0.000000 0.000000 0.000000 0.000105 0.000089 0.000000 0.000000 0.000105 11 1 0 0 0 2 8 0 0 198571 18006 27124 7435 13847 18975 89476 18971 4737 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 6 0 0 0 0 0 0 0 0 5 1 0 0 0 2 2 0 0 PASS 0 Exomes+Genomes COSM3559795 Skin 0.000812 1232 transition C T C>T 0.992 0.448 P Pro CCC 0.328 S Ser TCC 0.220 511 12 6 Platypus -1 -1 -2 0.39 I.42 8 9.II 32.5 32 74 C0 258.32 0.00 Tolerated 0.69 III.35 255 PASS . . . . . . . . . . . . . . . . 0.44927537 . . @ 31 . . 1.2.2016 0 0 0 0 0 0 0 0 0 0 0 0 . . . . . . 0.216 . @ . . . . . 1 0.289 . . 69.0 . . . . . . . . . . . . . . . . . . . 3.948e-05 . . . 0 6.934e-05 0 0 0 0.0001 0 0.0001 0 4.331e-05 0 0 0 5.646e-05 0 0.0001 nonsynonymous_SNV nonsynonymous_SNV nonsynonymous_SNV 0.998 . . exonic exonic exonic . . 0.251 @ . . . 0.23 0.21 182 ENSG00000160211 G6PD G6PD . . . 1.000 0.480 . . . . . . . Uncertain_significance . 0 . 0.343 . . . . D 0.975 0.694 . . 37 . 0.989 . . 0.999 . . . 0.459 0.373 . . . . 0 0 0 0 0 0 0 0 0 0 0 0.728 . . 0 0 0 0 0 0 . 0.186 . . 0.170 . . . . . . 0 0.349 . . . . . 0.196 . 0.276 . HET 0.06 . . . . . . . . . . . . . 6.1887 . . 5.VII I.96 . 0.150000 . . . . . . 0.413 . . . 0 5.08e-05 0 0 0 0 8.842e-05 0 0.0001 0.0002 9.339e-05 0 0 0 0 9.7e-05 0 . . . . 0.305 0.305000 . . 0.150000 . . 1.0E-255 1.000 0.715 . 0.466 0.954 . 0.462 . 0.663 0.305 0.913 . . . rs202122673 rs202122673 1 1538 10 1/0 0,255,255 +. X 153869683 CA C - IKBKGP1 24455 Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1 ENST00000453062.1 -1 1075 0 deletion intron GRCh37 153869684 153869684 ChrX(GRCh37):g.153869684del 727+75 727+75 ENST00000453062.1:n.727+75del p.? p.? 5 5 75 5' 90.6189 10.0684 0.98919 XII.01 90.6189 10.0684 0.98919 XII.15 0 T 255 Pass . . . . . . . . . . . . . . . . 0.21428572 . . . 12 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . . . . . . . 3 . . . 56 . . INTERGENIC(MODIFIER||||||||) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_intronic intronic intergenic . . . . . . . . . . ENSG00000224882 IKBKG . . . dist\x3d8236\x3bdist\x3d10562 . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0E-255 . . . . . . . . . . . . . . . . 1 1538 10 1.I 0,8,67 +. (chrX:154583795 G/A) X 154583795 G A Not on a known gene +. (chrX:155251822 G/A) X 155251822 G A No Alamut gene - other known genes: WASH6P WASH6P +. X 155256421 T A - DDX11L16 37115 DEAD/H-box helicase 11 like 16 NR_110561.1 -1 1643 0 substitution exon GRCh37 155256421 155256421 ChrX(GRCh37):g.155256421T>A 545 545 NR_110561.1:n.545A>T 3 82 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 0.000846 0.000000 0.000000 0.000000 0.000000 0.000000 0.001613 0.000000 0.000000 0.001613 1 0 0 0 0 0 1 0 0 1182 248 36 8 228 0 620 16 26 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 106 Genomes transversion A T A>T 1.000 1.981 218 PASS . . . . . . . . . . . . . . . . 0.20714286 . . @ 29 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 140.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aTg|K182M|DDX11L16|Non-coding_transcript|NON_CODING|NR_110561|NR_110561.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.32 182 ENSG00000227159 DDX11Lfamilymember DDX11L16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0.0008 0 0 0 0 0.0016 0 . . . . . . . . . . . 1.0E-218 . . . . . . . . . . . . . rs71249500 rs28532600 rs28532600 1 1538 10 1/0 0,221,255 +. X 155256452 A G - DDX11L16 37115 DEAD/H-box helicase 11 like 16 NR_110561.1 -1 1643 0 substitution exon GRCh37 155256452 155256452 ChrX(GRCh37):g.155256452A>G 514 514 NR_110561.1:n.514T>C 3 51 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 Cryptic Acceptor Weakly Activated 155256449 0.001943 65.402 0.162297 0.001205 71.5787 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1920 462 58 16 326 0 970 30 58 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 72 Genomes transition T C T>C 0.992 0.367 194 PASS . . . . . . . . . . . . . . . . 0.1440678 . . @ 17 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 0 . . . 118.0 . . STOP_LOST(HIGH|MISSENSE|Tag/Cag|*172Q|DDX11L16|Non-coding_transcript|NON_CODING|NR_110561|NR_110561.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.6 0.31 182 ENSG00000227159 DDX11Lfamilymember DDX11L16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 1.0E-194 . . . . . . . . . . . . . . rs78041349 rs78041349 1 1538 10 1/0 0,222,255 +. X 155256453 A G - DDX11L16 37115 DEAD/H-box helicase 11 like 16 NR_110561.1 -1 1643 0 substitution exon GRCh37 155256453 155256453 ChrX(GRCh37):g.155256453A>G 513 513 NR_110561.1:n.513T>C 3 50 3' 76.1291 3.89477 0.204986 0 76.1291 3.89477 0.204986 0 0 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 1942 480 58 18 328 0 968 36 54 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF|AC0 71 Genomes transition T C T>C 0.992 0.367 184 PASS . . . . . . . . . . . . . . . . 0.12096774 . . @ 15 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 124.0 . . SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D171|DDX11L16|Non-coding_transcript|NON_CODING|NR_110561|NR_110561.ex.3) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.62 0.3 182 ENSG00000227159 DDX11Lfamilymember DDX11L16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . LowAF . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 . . . . . . . . . . . 9.999999999999999E-185 . . . . . . . . . . . . . . rs74713238 rs74713238 1 1538 10 1/0 0,218,255 +rs7357887 X 155257601 G T - DDX11L16 37115 DEAD/H-box helicase 11 like 16 NR_110561.1 -1 1643 0 substitution exon GRCh37 155257601 155257601 ChrX(GRCh37):g.155257601G>T 248 248 NR_110561.1:n.248C>A 1 -107 5' 78.9497 9.09184 0.971166 4.41927 78.9497 9.09184 0.971166 4.41927 0 0.000490 0.001477 0.001908 0.000000 0.000000 0.000000 0.000133 0.000000 0.000000 0.001908 7 5 1 0 0 0 1 0 0 14280 3386 524 108 1356 0 7534 980 392 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 RF 31 Genomes transversion C A C>A 0.016 -1.812 221 PASS . . . . . . . . . . . . . . . . 0.21621622 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 1 . . . 74.0 . . NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S83Y|DDX11L16|Non-coding_transcript|NON_CODING|NR_110561|NR_110561.ex.1) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ncRNA_exonic ncRNA_exonic ncRNA_exonic . . . @ . . . 0.63 0.08 182 ENSG00000227159 DDX11Lfamilymember DDX11L16 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HET . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0005 0.0019 0 0 0 0.0001 0 . . . . . . . . . . . 1.0E-221 . . . . . . . . . . . . rs7357887 rs7357887 rs7357887 rs7357887 1 1538 10 1/0 0,250,255 +rs9785927 (chrY:150860 T/C) Y 150860 T C No Alamut gene - other known genes: NAP1L1P2 NAP1L1P2 +rs6644980 (chrY:155373 A/G) Y 155373 A G Not on a known gene +rs28594653 (chrY:174593 T/C) Y 174593 T C Not on a known gene +rs4072364 (chrY:178976 G/C) Y 178976 G C Not on a known gene +rs62580113 (chrY:179137 A/G) Y 179137 A G Not on a known gene +rs1140798 (chrY:179542 G/A) Y 179542 G A Not on a known gene +rs1133535 (chrY:245069 A/G) Y 245069 A G Not on a known gene +rs14127 (chrY:245097 C/T) Y 245097 C T Not on a known gene +rs1133530 (chrY:245132 T/C) Y 245132 T C Not on a known gene +rs1133523 (chrY:245231 A/G) Y 245231 A G Not on a known gene +rs1133520 (chrY:249360 G/A) Y 249360 G A Not on a known gene +rs2738376 (chrY:249362 A/G) Y 249362 A G Not on a known gene +rs2738375 (chrY:249481 C/A) Y 249481 C A Not on a known gene +rs2738374 (chrY:249501 C/T) Y 249501 C T Not on a known gene +rs2738373 (chrY:249591 A/G) Y 249591 A G Not on a known gene +rs2738364 (chrY:252139 G/C) Y 252139 G C Not on a known gene +rs2738357 (chrY:255984 G/A) Y 255984 G A Not on a known gene +rs2738356 (chrY:256056 G/A) Y 256056 G A Not on a known gene +rs2738355 (chrY:256152 T/G) Y 256152 T G Not on a known gene +rs2738353 (chrY:257411 G/A) Y 257411 G A Not on a known gene +. (chrY:257910 TGTAGACGCG/T) Y 257910 TGTAGACGCG T Not on a known gene +rs62581487 (chrY:257920 G/C) Y 257920 G C Not on a known gene +rs6603251 (chrY:270580 T/C) Y 270580 T C Not on a known gene +rs17855192 (chrY:272257 G/A) Y 272257 G A Not on a known gene +rs67131690 (chrY:495924 T/G) Y 495924 T G Not on a known gene +rs2239402 (chrY:541926 T/G) Y 541926 T G Not on a known gene +rs151218732 (chrY:1264931 C/T) Y 1264931 C T Not on a known gene +rs9778721 (chrY:1267404 T/C) Y 1267404 T C Not on a known gene +rs140859855 (chrY:1281495 G/C) Y 1281495 G C Not on a known gene +rs28716068 (chrY:1354832 T/G) Y 1354832 T G Not on a known gene +rs28460440 (chrY:1372868 G/A) Y 1372868 G A Not on a known gene +rs6647005 (chrY:1410740 A/G) Y 1410740 A G Not on a known gene +rs17882947 (chrY:1417290 G/C) Y 1417290 G C Not on a known gene +rs6603272 (chrY:1421138 G/T) Y 1421138 G T Not on a known gene +rs5989668 (chrY:1449835 T/C) Y 1449835 T C Not on a known gene +rs5989670 (chrY:1449878 T/G) Y 1449878 T G Not on a known gene +rs6644951 (chrY:1456318 C/G) Y 1456318 C G Not on a known gene +rs7205 (chrY:1458324 G/A) Y 1458324 G A Not on a known gene +rs14005 (chrY:1458583 T/C) Y 1458583 T C Not on a known gene +rs28461371 (chrY:1481558 C/T) Y 1481558 C T Not on a known gene +rs1127297 (chrY:1481648 C/T) Y 1481648 C T Not on a known gene +rs11553052 (chrY:1487953 C/T) Y 1487953 C T Not on a known gene +rs35466875 (chrY:1490706 A/G) Y 1490706 A G Not on a known gene +rs35193769 (chrY:1496601 T/C) Y 1496601 T C Not on a known gene +rs5949099 (chrY:1496792 G/A) Y 1496792 G A Not on a known gene +rs11553051 (chrY:1496842 A/G) Y 1496842 A G Not on a known gene +rs5948863 (chrY:1496876 A/G) Y 1496876 A G Not on a known gene +rs3183025 (chrY:1504649 T/C) Y 1504649 T C Not on a known gene +rs28592995 (chrY:1504655 T/C) Y 1504655 T C Not on a known gene +rs28371027 (chrY:1535500 T/C) Y 1535500 T C Not on a known gene +rs6644621 (chrY:1663021 C/T) Y 1663021 C T Not on a known gene +rs58902273 (chrY:1668360 G/A) Y 1668360 G A Not on a known gene +rs28661622 (chrY:1669897 C/G) Y 1669897 C G Not on a known gene +rs4933063 (chrY:1705404 C/T) Y 1705404 C T Not on a known gene +rs3210910 (chrY:2089200 T/C) Y 2089200 T C Not on a known gene +rs1127915 (chrY:2111129 C/G) Y 2111129 C G Not on a known gene +rs62583689 (chrY:2188611 G/A) Y 2188611 G A Not on a known gene +rs73173783 (chrY:2293213 C/T) Y 2293213 C T Not on a known gene +rs183618046 (chrY:2559543 G/A) Y 2559543 G A No Alamut gene - other known genes: EIF4A1P2 EIF4A1P2 +rs5939299 (chrY:2559717 G/T) Y 2559717 G T No Alamut gene - other known genes: EIF4A1P2 EIF4A1P2 +rs310134 (chrY:2559749 T/C) Y 2559749 T C No Alamut gene - other known genes: EIF4A1P2 EIF4A1P2 +rs2236738 (chrY:2559983 T/C) Y 2559983 T C No Alamut gene - other known genes: EIF4A1P2 EIF4A1P2 +rs1136447 (chrY:2582482 C/T) Y 2582482 C T Not on a known gene +rs5939113 (chrY:2588499 G/A) Y 2588499 G A Not on a known gene +rs311083 (chrY:2595366 G/C) Y 2595366 G C Not on a known gene +rs79963642 (chrY:13309574 T/C) Y 13309574 T C No Alamut gene - other known genes: KALP KALP +rs72620650 (chrY:13309588 A/C) Y 13309588 A C No Alamut gene - other known genes: KALP KALP +rs72620651 (chrY:13309602 G/T) Y 13309602 G T No Alamut gene - other known genes: KALP KALP +rs79101133 (chrY:13309624 A/G) Y 13309624 A G No Alamut gene - other known genes: KALP KALP +rs878906799 (chrY:13309627 G/A) Y 13309627 G A No Alamut gene - other known genes: KALP KALP +rs76003078 (chrY:13310495 T/C) Y 13310495 T C No Alamut gene - other known genes: KALP KALP +. (chrY:13310500 G/A) Y 13310500 G A No Alamut gene - other known genes: KALP KALP +rs76644245 (chrY:13310502 A/G) Y 13310502 A G No Alamut gene - other known genes: KALP KALP +rs80084783 (chrY:13310507 G/A) Y 13310507 G A No Alamut gene - other known genes: KALP KALP +rs76988723 (chrY:13310525 A/G) Y 13310525 A G No Alamut gene - other known genes: KALP KALP +. (chrY:13310531 C/A) Y 13310531 C A No Alamut gene - other known genes: KALP KALP +. (chrY:13310532 C/G) Y 13310532 C G No Alamut gene - other known genes: KALP KALP +rs878979293 (chrY:13310559 T/C) Y 13310559 T C No Alamut gene - other known genes: KALP KALP +rs80348613 (chrY:13310567 T/C) Y 13310567 T C No Alamut gene - other known genes: KALP KALP +rs200185916 (chrY:13310578 C/T) Y 13310578 C T No Alamut gene - other known genes: KALP KALP +rs201255328 (chrY:13310581 G/C) Y 13310581 G C No Alamut gene - other known genes: KALP KALP +rs201815174 (chrY:13310582 G/A) Y 13310582 G A No Alamut gene - other known genes: KALP KALP +rs200323052 (chrY:13310602 G/A) Y 13310602 G A No Alamut gene - other known genes: KALP KALP +rs201423743 (chrY:13310606 T/C) Y 13310606 T C No Alamut gene - other known genes: KALP KALP +rs199570822 (chrY:13310607 G/A) Y 13310607 G A No Alamut gene - other known genes: KALP KALP +rs74510459 (chrY:13310610 A/C) Y 13310610 A C No Alamut gene - other known genes: KALP KALP +rs74943081 (chrY:13310621 C/A) Y 13310621 C A No Alamut gene - other known genes: KALP KALP +rs74864464 (chrY:13310622 C/A) Y 13310622 C A No Alamut gene - other known genes: KALP KALP +rs62599754 (chrY:13311405 T/A) Y 13311405 T A No Alamut gene - other known genes: KALP KALP +rs145140024 (chrY:13311446 G/A) Y 13311446 G A No Alamut gene - other known genes: KALP KALP +rs79439484 (chrY:13311459 C/A) Y 13311459 C A No Alamut gene - other known genes: KALP KALP +rs79679333 (chrY:13311462 C/A) Y 13311462 C A No Alamut gene - other known genes: KALP KALP +rs77463160 (chrY:13311477 T/C) Y 13311477 T C No Alamut gene - other known genes: KALP KALP +rs111409981 (chrY:13311487 C/T) Y 13311487 C T No Alamut gene - other known genes: KALP KALP +rs74359393 (chrY:13311491 C/T) Y 13311491 C T No Alamut gene - other known genes: KALP KALP +rs142076379 (chrY:13311500 C/A) Y 13311500 C A No Alamut gene - other known genes: KALP KALP +rs74890084 (chrY:13311501 G/A) Y 13311501 G A No Alamut gene - other known genes: KALP KALP +rs140429861 (chrY:13311519 T/C) Y 13311519 T C No Alamut gene - other known genes: KALP KALP +rs879231806 (chrY:13311533 G/A) Y 13311533 G A No Alamut gene - other known genes: KALP KALP +rs775100446 (chrY:13311540 T/C) Y 13311540 T C No Alamut gene - other known genes: KALP KALP +. (chrY:13311562 T/A) Y 13311562 T A No Alamut gene - other known genes: KALP KALP +. (chrY:13311565 G/A) Y 13311565 G A No Alamut gene - other known genes: KALP KALP +rs75728214 (chrY:13311579 A/G) Y 13311579 A G No Alamut gene - other known genes: KALP KALP +rs78550346 (chrY:13311584 G/A) Y 13311584 G A No Alamut gene - other known genes: KALP KALP +rs138036032 (chrY:13311600 T/A) Y 13311600 T A No Alamut gene - other known genes: KALP KALP +rs4125122 (chrY:13368500 A/G) Y 13368500 A G No Alamut gene - other known genes: KALP KALP +rs78695528 (chrY:13488174 C/T) Y 13488174 C T Not on a known gene +rs80229607 (chrY:13488176 A/G) Y 13488176 A G Not on a known gene +rs111257196 (chrY:13488192 A/G) Y 13488192 A G Not on a known gene +rs75512131 (chrY:13488215 C/A) Y 13488215 C A Not on a known gene +rs75512131 (chrY:13488215 C/G) Y 13488215 C G Not on a known gene +. (chrY:13488223 C/T) Y 13488223 C T Not on a known gene +rs766839376 (chrY:13488226 C/A) Y 13488226 C A Not on a known gene +rs75169378 (chrY:13489425 T/C) Y 13489425 T C Not on a known gene +rs75123822 (chrY:13489434 G/A) Y 13489434 G A Not on a known gene +. (chrY:13489445 C/T) Y 13489445 C T Not on a known gene +. (chrY:13489446 G/A) Y 13489446 G A Not on a known gene +. (chrY:13489472 T/A) Y 13489472 T A Not on a known gene +rs79167869 (chrY:13489475 T/C) Y 13489475 T C Not on a known gene +rs377536610 (chrY:13489476 G/A) Y 13489476 G A Not on a known gene +rs111812426 (chrY:13489491 G/A) Y 13489491 G A Not on a known gene +. (chrY:13489507 G/T) Y 13489507 G T Not on a known gene +. (chrY:13489514 C/T) Y 13489514 C T Not on a known gene +rs111429450 (chrY:13489515 G/A) Y 13489515 G A Not on a known gene +rs79473036 (chrY:13496371 T/A) Y 13496371 T A Not on a known gene +rs77663237 (chrY:13524507 C/T) Y 13524507 C T Not on a known gene +rs78395530 (chrY:13524548 T/G) Y 13524548 T G Not on a known gene +rs77147889 (chrY:13524594 G/T) Y 13524594 G T Not on a known gene +rs62601224 (chrY:13551963 G/A) Y 13551963 G A Not on a known gene +rs73620059 (chrY:13573033 A/C) Y 13573033 A C Not on a known gene +rs78037666 (chrY:13573108 G/C) Y 13573108 G C Not on a known gene +rs879016544 (chrY:14107314 T/C) Y 14107314 T C Not on a known gene +rs867343413 (chrY:14107438 C/T) Y 14107438 C T Not on a known gene +rs17855271 Y 21154569 A G - TTTY14 18495 Testis-specific transcript, Y-linked 14 (non-protein coding) NR_125733.1 -1 1130 0 substitution intron GRCh37 21154569 21154569 ChrY(GRCh37):g.21154569A>G 579-59208 579-59208 NR_125733.1:n.579-59208T>C p.? p.? 3 2 -59208 3' 75.8651 7.10761 0.19992 I.59 75.8651 7.10761 0.19992 I.59 0 rs17855271 yes no Frequency 1 0.000000 0 0.000132 0.000000 0.000000 0.000000 0.000000 0.000000 0.000335 0.000000 0.000000 0.000335 2 0 0 0 0 0 2 0 0 15121 1169 2401 388 1929 2149 5975 711 399 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 648 Exomes transition T C T>C 0.000 -3.588 111 PASS . . . . . . . . . . . . CD24:uc004ftz.1:exon1:c.T27C:p.L9L . . . 1.0 . . @ 13 . . 1.2.2016 0 0 0 0 1 0 0 1 1 0 0 0 . . . . . . . . @ . . . . . 2 . . . 13.0 . . . . . . . . . . . . . . . . . . . . . . . 0 0.0291 0 0 0 0.0233 0.0769 0.0355 0 0.0311 0 0.0159 0 0.0295 0.0784 0.0355 . synonymous_SNV synonymous_SNV . . . ncRNA_exonic exonic exonic . . . @ . . . 0.64 0.42 182 ENSG00000185275 CD24 CD24 . . . . . . . . . . . . Likely_benign . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0 0 . . . 0 0 0 0 0 0 . . . . . . . . . . . 8 . . . . . . . . . . HOM . rs17855271 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv10025 . . . . . . 0 0.0001 0 0 0 0 0.0003 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . rs17855271 rs17855271 rs17855271 rs17855271 1 1538 255 1.I 0,0,255 +rs79788321 Y 21154603 A C - TTTY14 18495 Testis-specific transcript, Y-linked 14 (non-protein coding) NR_125733.1 -1 1130 0 substitution intron GRCh37 21154603 21154603 ChrY(GRCh37):g.21154603A>C 579-59242 579-59242 NR_125733.1:n.579-59242T>G p.? p.? 3 2 -59242 3' 75.8651 7.10761 0.19992 I.59 75.8651 7.10761 0.19992 I.59 0 rs79788321 yes no Frequency 1 0.000000 0 0.007481 0.000000 0.000000 0.000000 0.000000 0.000000 0.012097 0.000000 0.000000 0.012097 6 0 0 0 0 0 6 0 0 802 78 61 33 29 53 496 42 10 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0.000000 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 PASS 16656 Exomes transversion T G T>G 0.000 0.286 111 PASS . . . . . . . . . . . . . . . . 1.0 . . @ 16 . . 1.2.2016 . . . . . . . . . . . . . . . . . . . . @ . . . . . 2 . . . 16.0 . . . . . . . . . . . . . . . . . . . . . . . 0.1490 0.6865 0.4688 0.0580 0.1667 0.4502 0.7255 0.8596 0.1836 0.7416 0.5179 0.5556 0.0182 0.5652 0.8043 0.8599 . . . . . . ncRNA_intronic ncRNA_intronic ncRNA_intronic . . . @ . . . 0.62 0.49 182 ENSG00000176728 TTTY14 TTTY14 . . . . . . . . . . . . . . 0 . . . . . . . . . . . 37 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 . . . . . . . . . . . . 0 . . . . . . . . . . HOM . rs79788321 . . . . . . . . . . . . . . . . . . . . . . Name\x3dnsv10025 . . . . . II.19 0 0.0075 0 0 0 0 0.0121 0 0 . . . . . . . . . . . . . . . . . . . 1.0E-111 . . . . . . . . . . . . . . rs79788321 rs79788321 1 1538 255 1.I 0,0,255 +rs759491725 (chrY:59354363 A/G) Y 59354363 A G Not on a known gene +rs373351400 (chrY:59354475 A/C) Y 59354475 A C Not on a known gene +rs1045455 (chrY:59354704 G/A) Y 59354704 G A Not on a known gene +rs200636884 (chrY:59354732 G/C) Y 59354732 G C Not on a known gene +rs2758109 (chrY:59354990 T/C) Y 59354990 T C Not on a known gene +rs7357849 (chrY:59355008 C/A) Y 59355008 C A Not on a known gene +rs199901000 (chrY:59355020 C/T) Y 59355020 C T Not on a known gene +rs201762736 (chrY:59355110 T/C) Y 59355110 T C Not on a known gene +rs7357857 (chrY:59355259 C/T) Y 59355259 C T Not on a known gene +rs201221490 (chrY:59355335 T/C) Y 59355335 T C Not on a known gene +rs751897675 (chrY:59355365 C/T) Y 59355365 C T Not on a known gene +rs775704043 (chrY:59355742 A/G) Y 59355742 A G Not on a known gene +rs4013631 (chrY:59355764 A/G) Y 59355764 A G Not on a known gene +rs764864541 (chrY:59355915 C/T) Y 59355915 C T Not on a known gene +rs749589250 (chrY:59355931 G/C) Y 59355931 G C Not on a known gene +rs772663864 (chrY:59355937 C/T) Y 59355937 C T Not on a known gene +rs2974804 (chrY:59355957 G/A) Y 59355957 G A Not on a known gene +rs3953915 (chrY:59357787 G/A) Y 59357787 G A Not on a known gene +. (chrY:59359427 T/A) Y 59359427 T A Not on a known gene +. (chrY:59359458 A/G) Y 59359458 A G Not on a known gene +. (chrY:59359459 A/G) Y 59359459 A G Not on a known gene +rs778058786 (chrY:59359945 C/T) Y 59359945 C T Not on a known gene +rs371319796 (chrY:59359978 C/T) Y 59359978 C T Not on a known gene diff -r 000000000000 -r 33f04fc1f109 RemovingNonAsciicharsfromtextfile/test-data/test1_out.log --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/RemovingNonAsciicharsfromtextfile/test-data/test1_out.log Thu Apr 26 10:57:25 2018 -0400 @@ -0,0 +1,1 @@ +## Toolfactory generated command line = bash /home/lab/galaxy/galaxy/database/tmp/RemovingNonAsciicharsfromtextfilexVIx7q.bash /home/lab/galaxy/galaxy/database/files/000/dataset_27.dat /home/lab/galaxy/galaxy/database/files/000/dataset_31.dat